Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES960-M	WT	HH	HZ	NC
chr1	962773	962773	C	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon6:c.C898A:p.L300M	.	409	1103	10	0	0	10	0.00451264	.	.	.	2805456	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.223	0.0190368557808	0.0008	0.00139776	0.0016	0	0.0010	0	0	0.0010	0.0037	0.0067	0.0013777	213	154602	rs147703918	0.0010	0.0010	0.0008	0.0012	0.0061	0.0009	0.0009	0.0057	0.0055	5.977e-05	0.0004	0.0010	0	0.0004	0.0035	0.0007	0.0010	0.0061	0.0008	0.0008	0.0009	0.0008	0.0050	0.0007	0.0007	0.0034	0.0029	9.626e-05	0.0143	0.0003	0.0006	0	0.0002	0.0034	0.0011	0.0009	0.0050	0.025	0.47320	D	0.058	0.46182	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	0.8	0.48769	T	-1.49	0.36385	N	0.816	0.81162	-0.5845	0.65439	T	0.271	0.64224	T	10	0.012067974	0.00261	T	0.019037	0.41292	T	0.223	0.52023	.	.	0.560266599596	0.55688	0.5334197667721078	0.53266	.	.	0.65943479538	0.61328	T	0.075633	0.35223	T	-0.256202	0.13349	T	-0.138597	0.60240	T	0.136659324169159	0.15984	T	0.877212	0.59013	D	0.42285928	0.62281	0.21547383	0.46137	0.42285928	0.62282	0.21547383	0.46136	-9.006	0.67737	D	0.2608589584586656	0.35223	0.268	0.50222	B	.;.	.;.	3.522442	0.49381	22.8	0.77120551908449975	0.11745	0.98848	0.87654	D	AEFDBI	0.592336	0.58808	D	0.476522751908751	0.65723	4.858365	0.462569583091021	0.65527	4.835191	0.999999999690701	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	2.770000	0.47346	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:1.0:0.0:0.0	18.561	0.91055	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001362	0.000000	0.000000	0.008621	0.006098	0.011450	0.02632	1577.33	35	chr1	962773	.	C	A	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=809;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.794;SOR=1.182	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1423	18	0	1	0
chr1	966758	966758	C	G	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon2:c.C138G:p.S46R,PLEKHN1:NM_001367552:exon2:c.C138G:p.S46R,PLEKHN1:NM_032129:exon2:c.C138G:p.S46R	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0208440139838	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001804580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.02	0.49613	D	0.088	0.41239	T	0.785	0.44430	P	0.41	0.44785	B	0.785778	0.09436	N	0.889113	1	0.08975	N	0	0.06538	N	0.94	0.44065	T	-1.18	0.34795	N	0.209	0.32591	-1.0468	0.15303	T	0.057	0.23942	T	10	0.075721145	0.11738	T	0.020844	0.43511	T	0.033	0.08068	0.181	0.08877	0.148003135375	0.14442	0.2668466641858607	0.26597	0.0182348448653	0.01780	0.433513879776	0.29689	T	0.006245	0.05676	T	-0.302246	0.08450	T	-0.671932	0.07485	T	0.0892392722378742	0.11127	T	0.69743	0.30707	T	0.085459664	0.19825	0.07508028	0.16492	0.085459664	0.19824	0.07508028	0.16492	-3.857	0.21659	T	.	.	0.196	0.43269	B	.;.;.	.;.;.	1.083376	0.14665	11.22	0.97080508410514188	0.32277	0.03205	0.08202	N	ALL	0.087044	0.17650	N	-1.03144423264579	0.07956	0.371416	-1.12605490737256	0.07205	0.3496089	0.999999871753302	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.43	-2.01	0.07003	-1.174000	0.03214	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1207:0.3415:0.1189:0.4189	2.413	0.04158	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	550.33	35	chr1	966758	.	C	G	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.48;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	18	0	1	0
chr1	966765	966765	G	A	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon2:c.G145A:p.A49T,PLEKHN1:NM_001367552:exon2:c.G145A:p.A49T,PLEKHN1:NM_032129:exon2:c.G145A:p.A49T	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.006728288057	.	.	0.0005	0	0	0	0	0	0	0.0013	0.0001229	19	154602	rs757955004	7.819e-05	8.962e-05	5.162e-05	0.0001	0.0009	6.615e-05	6.183e-05	0.0008	0.0007	0	0.0002	0	2.696e-05	2.102e-05	0.0002	1.923e-05	6.805e-05	0.0009	3.282e-05	3.281e-05	3.854e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.285e-05	3.027e-05	2.405e-05	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.015	0.20350	B	0.003	0.11217	B	0.464547	0.12351	N	0.702006	1	0.08975	N	-0.55	0.02420	N	1.08	0.40218	T	1.22	0.01408	N	0.093	0.07262	-1.0630	0.11021	T	0.029	0.12541	T	10	0.004440278	0.00091	T	0.006728	0.17784	T	0.028	0.06331	0.179	0.08626	0.0297737177859	0.01360	0.19979812765159546	0.19896	0.009824468403	0.00893	0.315550148487	0.12747	T	0.002631	0.02024	T	-0.663654	0.00060	T	-0.77651	0.02561	T	0.0372198770489534	0.03195	T	0.534647	0.17878	T	0.019179603	0.00445	0.040390167	0.04352	0.019179603	0.00445	0.040390167	0.04352	-4.268	0.27853	T	.	.	0.068	0.05360	B	.;.;.	.;.;.	-1.284029	0.00452	0.009	0.90376063081796232	0.19639	0.01648	0.05296	N	ALL	0.039902	0.05861	N	-1.74406218146125	0.00697	0.03009216	-1.82523087891978	0.00682	0.03033404	0.999999999999931	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.43	-10.9	0.00151	-3.977000	0.00362	.	.	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3314:0.0:0.3812:0.2874	5.607	0.16667	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	844.33	35	chr1	966765	.	G	A	844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.921;DP=669;ExcessHet=0;FS=6.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-1.579;SOR=1.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	18	0	1	0
chr1	972082	972082	T	C	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon9:c.T833C:p.L278P,PLEKHN1:NM_001367552:exon9:c.T833C:p.L278P,PLEKHN1:NM_032129:exon9:c.T797C:p.L266P	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.193170079071	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185507018	2.944e-05	3.01e-05	3.543e-05	2.34e-05	0.0003	2.218e-05	1.972e-05	6.092e-05	2.521e-05	2.988e-05	0	0	0	0	0.0003	3.238e-05	4.971e-05	1.16e-05	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.945	0.84822	M	0.6	0.53731	T	-4.74	0.87835	D	0.836	0.87917	-0.4021	0.71960	T	0.315	0.68460	T	10	0.8689939	0.86156	D	0.19317	0.86288	D	0.544	0.81018	0.702	0.83869	0.697555083171	0.69494	0.9122648633735735	0.91200	0.0585938424744	0.06498	0.628105044365	0.56875	T	.	.	.	0.250516	0.78650	D	0.122072	0.78373	D	0.995378971099854	0.87309	D	0.833717	0.51077	T	0.95052886	0.96319	0.8507157	0.91552	0.95052886	0.96319	0.8507157	0.91552	-14.407	0.94717	D	.	.	0.983	0.93180	P	.;.;.	.;.;.	4.263034	0.64797	24.8	0.99851321802264614	0.93102	0.89935	0.50732	D	AEFDBI	0.498741	0.53272	N	0.373074762032816	0.59967	4.18082	0.27001054144152	0.53796	3.546881	0.685343978622461	0.22526	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.68	4.68	0.58319	0.399000	0.20641	.	.	0.607000	0.46521	0.015000	0.19116	1.000000	0.68203	0.123000	0.19290	0.0:0.0:0.0:1.0	10.533	0.44178	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.33	33	chr1	972082	.	T	C	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.305;DP=675;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.17;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1034	18	0	1	0
chr1	974018	974018	-	G	exonic	PLEKHN1	.	frameshift insertion	PLEKHN1:NM_001160184:exon13:c.1516dupG:p.P508Afs*60,PLEKHN1:NM_001367552:exon14:c.1657dupG:p.P555Afs*60,PLEKHN1:NM_032129:exon14:c.1621dupG:p.P543Afs*60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.484e-05	0	0	0	0	2.764e-05	0	0.0003	3.84e-05	1	26028	rs760801758	3.385e-05	3.42e-05	3.296e-05	3.474e-05	0.0002	2.591e-05	2.334e-05	0.0001	0.0001	9.027e-05	0	3.857e-05	0	2.066e-05	0.0002	1.896e-05	5.018e-05	0.0002	5.255e-05	5.25e-05	5.141e-05	5.374e-05	0.0004	2.556e-05	1.83e-05	7.307e-05	3.035e-05	9.627e-05	0	0	0	0	0	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	574.29	42	chr1	974018	.	T	TG	574.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.614;DP=586;ExcessHet=0;FS=2.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.493;SOR=0.307	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	18	0	1	0
chr1	979088	979088	G	C	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1942G:p.P648A,PERM1:NM_001291366:exon2:c.C1942G:p.P648A,PERM1:NM_001369897:exon2:c.C1942G:p.P648A,PERM1:NM_001291367:exon3:c.C1600G:p.P534A	.	422	1099	0	1	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.107888436619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.147e-06	2.052e-06	1.412e-06	2.903e-06	0.0002	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0.0002	1.855e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.076987	0.21130	N	0.399796	1	0.08975	N	.	.	.	.	.	.	-3.41	0.67129	D	0.107	0.09207	-0.9672	0.37774	T	0.112	0.40191	T	9	0.13345584	0.25400	T	0.107888	0.78416	D	0.026	0.05648	.	.	0.0551355673512	0.04727	0.156346589175036	0.15555	.	.	.	.	.	0.111678	0.42736	T	-0.0672128	0.41772	T	-0.334323	0.40985	T	0.925243079662323	0.58686	D	0.528347	0.20346	T	0.05675663	0.11207	0.114747	0.27700	0.05675663	0.11207	0.114747	0.27699	-4.65	0.32794	T	.	.	0.080	0.07745	B	.;.	.;.	2.571087	0.33319	19.30	0.9885599585804673	0.47373	0.08750	0.14633	N	AEFBCI	0.071891	0.14328	N	-0.485388544767159	0.22559	1.205416	-0.577805470024774	0.20072	1.079807	0.0426184451924942	0.14534	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.96	2.88	0.32617	1.278000	0.32784	.	.	0.616000	0.49467	0.008000	0.17931	0.166000	0.23302	0.288000	0.24212	0.1067:0.2462:0.6471:0.0	6.077	0.19145	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1946.33	53	chr1	979088	.	G	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=1256;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.1;SOR=0.756	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr1	979327	979327	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1703T:p.T568M,PERM1:NM_001291366:exon2:c.C1703T:p.T568M,PERM1:NM_001369897:exon2:c.C1703T:p.T568M,PERM1:NM_001291367:exon3:c.C1361T:p.T454M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00532094477834	.	.	0.0004	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs757477287	7.914e-05	7.525e-05	5.424e-05	0.0001	0.0008	6.702e-05	6.233e-05	0.0006	0.0005	0	5.932e-05	0	0	0	0	4.31e-05	5.263e-05	0.0008	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.156	0.24090	T	0.167	0.34009	T	.	.	.	.	.	.	0.397018	0.04511	N	1.531100	1	0.08975	N	.	.	.	.	.	.	-0.71	0.20145	N	0.041	0.02759	-1.0520	0.13845	T	0.051	0.21806	T	9	0.023302764	0.00606	T	0.005321	0.13618	T	0.008	0.00669	.	.	0.0551355673512	0.04727	0.08644473561307668	0.08578	.	.	.	.	.	0.012954	0.11294	T	-0.52088	0.00435	T	-0.604016	0.12476	T	0.0878680078273102	0.10963	T	0.342666	0.08539	T	0.018268332	0.00348	0.02851552	0.01096	0.018268332	0.00348	0.02851552	0.01095	-5.333	0.43318	T	.	.	0.097	0.15921	B	.;.	.;.	-0.397952	0.02220	0.223	0.88947297739650311	0.18384	0.02512	0.07007	N	AEFDBCI	0.052499	0.09376	N	-1.95809656469967	0.00260	0.01114816	-2.11177602556695	0.00176	0.007733274	0.999999680613741	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.13	-10.3	0.00281	-1.990000	0.01568	.	.	-1.826000	0.00595	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.36:0.2907:0.2129:0.1364	2.082	0.03416	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1786.33	53	chr1	979327	.	G	A	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=1283;ExcessHet=0;FS=10.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.35;SOR=1.477	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr1	979831	979831	G	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.C1199T:p.A400V,PERM1:NM_001291366:exon2:c.C1199T:p.A400V,PERM1:NM_001369897:exon2:c.C1199T:p.A400V,PERM1:NM_001291367:exon3:c.C857T:p.A286V	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0185273084156	.	0.000599042	0.0017	0	0	0	0.0007	0.0013	0.0051	0.0023	0.0002329	36	154602	rs577120404	0.0009	0.0008	0.0008	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0002	0.0001	0.0023	0	0.0015	0.0011	0.0008	0.0006	0.0024	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	4.808e-05	0	0	0.0023	0	0.0020	0.0034	0.0010	0.0005	0.0023	0.029	0.45756	D	0.073	0.43913	T	.	.	.	.	.	.	0.637774	0.10627	U	0.721314	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.42	0.34992	N	0.222	0.24883	-0.9927	0.31906	T	0.087	0.33830	T	9	0.005650878	0.00125	T	0.018527	0.40624	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.12155043505038945	0.12082	.	.	.	.	.	0.029361	0.21058	T	-0.642163	0.00081	T	-0.700437	0.05802	T	0.0140976008727006	0.00274	T	0.371963	0.10281	T	0.02111979	0.00699	0.06434521	0.12881	0.02111979	0.00698	0.06434521	0.12881	-5.786	0.46522	T	.	.	0.116	0.23500	B	.;.	.;.	0.896959	0.12707	9.228	0.98901071050071854	0.48181	0.15022	0.18705	N	AEFDBCI	0.079958	0.16159	N	-1.0085836735568	0.08424	0.3949748	-1.06137548402993	0.08470	0.4166884	0.995574168383274	0.34201	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.730000	0.47007	.	.	-1.241000	0.01314	0.232000	0.24664	0.105000	0.22724	0.002000	0.04165	0.1118:0.0:0.8882:0.0	9.100	0.35826	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	8219.81	108	chr1	979831	.	G	A	8219.81	.	AC=2;AF=0.053;AN=38;DP=1937;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.55;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:99:.:.:0,120,1800:.	18	1	0	0
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.02632	396.33	28	chr1	1020239	.	G	C	396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.515;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.277;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:96:.:.:0,96,908:.	18	0	1	0
chr1	1041245	1041245	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon5:c.C800T:p.T267M	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	690290	Inborn_genetic_diseases|AGRN-related_disorder|not_provided|Congenital_myasthenic_syndrome_8	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	.	0.00199681	0.0008	0.0348	0	0	0	0	0	0	0.0002846	44	154602	rs566673314	0.0002	0.0003	0.0003	0.0002	0.0095	0.0002	0.0002	0.0085	0.0082	0.0095	0.0003	0	0	0	0.0015	1.228e-05	0.0007	6.656e-05	0.0024	0.0024	0.0024	0.0023	0.0083	0.0022	0.0021	0.0076	0.0073	0.0083	0	0.0008	0	0	0	0	4.42e-05	0	0	0.011	0.55530	D	0.004	0.74150	D	.	.	.	.	.	.	0.011964	0.29336	N	0.273243	0.988631	0.40800	D	2.455	0.71248	M	-1.07	0.76948	T	-2.24	0.50175	N	0.163	0.17140	0.007	0.82399	D	0.555	0.83752	D	10	0.008358687	0.00190	T	.	.	.	0.273	0.58883	0.305	0.27485	0.831208778231	0.82960	0.20380577410110742	0.20297	1.11105183779	0.78059	0.686756491661	0.65240	T	.	.	.	-0.379887	0.03121	T	-0.306782	0.44004	T	0.0380713030691359	0.03345	T	0.973953	0.91418	D	.	.	.	.	.	.	.	.	-7.726	0.59188	D	.	.	0.090	0.19679	B	.;.	.;.	2.979800	0.39743	21.0	0.99768286173574172	0.85666	0.48260	0.28167	N	AEFDBHCIJ	0.556997	0.56680	D	0.00164858252539335	0.41930	2.516975	-0.211008384153284	0.31138	1.759519	0.999998994425346	0.74766	0.789315	0.99827	0	0.723109	0.82256	0	0.768056	0.98339	0	0.562822	0.20929	0	.	.	4.69	2.75	0.31439	2.239000	0.42728	1.661000	0.27900	0.573000	0.29008	0.620000	0.27914	0.903000	0.28003	0.061000	0.16044	0.0:0.7746:0.1456:0.0799	9.376	0.37446	940	0.13648	.;Kazal domain|EGF-like domain|Follistatin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004444	0.006098	0.007645	0.000000	0.000000	0.000000	0.006897	0.000000	0.02632	1547.33	33	chr1	1041245	.	C	T	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=747;ExcessHet=0;FS=3.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.47;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	18	0	1	0
chr1	1043594	1043594	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon9:c.G1660A:p.V554M	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	249315	Congenital_myasthenic_syndrome_8|not_provided|not_specified	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.571	.	0.0030	0.0113818	0.0088	0.0007	0.0008	0.0334	0.0296	0.0077	0.0198	0.0022	0.0079236	1225	154602	rs79016973	0.0059	0.0060	0.0059	0.0060	0.0291	0.0058	0.0058	0.0277	0.0271	0.0005	0.0017	0.0021	0.0291	0.0261	0.0016	0.0050	0.0061	0.0025	0.0072	0.0072	0.0062	0.0083	0.0328	0.0069	0.0067	0.0288	0.0272	0.0008	0.0176	0.0059	0.0023	0.0328	0.0286	0	0.0066	0.0057	0.0035	0.011	0.55530	D	0.024	0.56640	D	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	1	0.81001	D	2.05	0.56469	M	-1.22	0.78752	T	-1.87	0.43717	N	0.559	0.58373	-0.1946	0.77810	T	0.232	0.59769	T	10	0.017632931	0.00378	T	.	.	.	0.571	0.82573	.	.	0.809329034948	0.80754	0.4693898272211653	0.46857	0.496083062219	0.48129	0.591021478176	0.51638	T	.	.	.	-0.252933	0.13742	T	-0.111722	0.62474	T	0.0130821755371329	0.00229	T	0.985001	0.94819	D	.	.	.	.	.	.	.	.	-9.196	0.68949	D	.	.	0.29	0.52921	B	.;.	.;.	4.026730	0.59515	24.1	0.99877600304416003	0.95410	0.99168	0.92232	D	AEFBHI	0.883150	0.81183	D	0.720955150174758	0.81007	7.422195	0.646309942305833	0.78337	6.856	0.999999999986268	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	7.442000	0.79626	7.420000	0.58709	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0:1.0:0.0	16.849	0.85852	940	0.13648	.;Kazal domain|Factor I / membrane attack complex|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1616.33	46	chr1	1043594	.	G	A	1616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.402;DP=973;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.697;SOR=0.671	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	1046562	1046562	C	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon18:c.C3077A:p.T1026N	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	249328	not_provided|not_specified|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	.	0.0028	0.0113818	0.0087	0.0008	0.0008	0.0325	0.0317	0.0076	0.0188	0.0022	0.0075937	1174	154602	rs3813188	0.0058	0.0059	0.0059	0.0058	0.0293	0.0057	0.0057	0.0279	0.0274	0.0005	0.0016	0.0021	0.0293	0.0263	0.0014	0.0048	0.0059	0.0025	0.0070	0.0071	0.0060	0.0081	0.0325	0.0067	0.0065	0.0285	0.0269	0.0007	0.0175	0.0059	0.0023	0.0325	0.0285	0	0.0063	0.0057	0.0035	0.295	0.14743	T	0.088	0.40586	T	.	.	.	.	.	.	0.822485	0.09167	N	0.898927	0.987126	0.24549	N	2.14	0.59869	M	-1.02	0.76300	T	-1.59	0.38345	N	0.272	0.38541	-0.7571	0.57562	T	0.149	0.47540	T	10	0.0045595467	0.00095	T	.	.	.	0.173	0.43840	.	.	0.84366985224	0.84217	0.20904011675854195	0.20820	0.29056830254	0.31466	0.410622000694	0.26543	T	.	.	.	-0.391647	0.02625	T	-0.311665	0.43478	T	0.0122262273158558	0.00197	T	0.816718	0.47282	T	.	.	.	.	.	.	.	.	-8.151	0.62094	D	.	.	0.130	0.27762	B	.;.	.;.	2.290118	0.29290	18.08	0.94868883354520628	0.25687	0.53594	0.29410	D	AEFBI	0.148509	0.27242	N	0.118763658584642	0.47338	2.960939	0.0122287490492074	0.40282	2.401497	0.908829381016051	0.26295	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	1.297000	0.33005	3.203000	0.36761	0.599000	0.40250	0.745000	0.29079	0.998000	0.33993	0.015000	0.10482	0.0:0.9043:0.0:0.0957	11.438	0.49327	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1613.33	37	chr1	1046562	.	C	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=892;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.8;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.02632	375.33	39	chr1	1047342	.	A	G	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-1.624;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1117	18	0	1	0
chr1	1047806	1047806	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon22:c.G3662A:p.R1221Q	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	538325	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0169290713654	.	.	1.31e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs764139323	2.342e-05	2.326e-05	2.74e-05	1.94e-05	0.0038	1.686e-05	1.488e-05	0.0026	0.0022	9.012e-05	0	0	0	0	0.0038	5.416e-06	1.67e-05	2.345e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0.0005	0	0.501	0.07720	T	0.303	0.20164	T	.	.	.	.	.	.	0.680669	0.10261	N	0.791785	1	0.08975	N	0.83	0.20963	L	1.15	0.38236	T	-1.12	0.28906	N	0.151	0.15469	-0.9923	0.32012	T	0.040	0.17319	T	10	0.06959668	0.10007	T	0.016929	0.38413	T	0.118	0.32913	0.606	0.73825	0.426904299391	0.42305	0.27960691849059655	0.27873	0.238749444739	0.26425	0.481464922428	0.36259	T	.	.	.	-0.226061	0.17173	T	-0.562498	0.16143	T	0.0464742923248651	0.04870	T	0.885211	0.61002	D	.	.	.	.	.	.	.	.	-4.298	0.28149	T	.	.	0.079	0.07889	B	.;.	.;.	2.093951	0.26636	17.19	0.9923600082060352	0.56373	0.02663	0.07280	N	AEFBI	0.075414	0.15142	N	-1.08487491337129	0.06921	0.3200087	-1.08093852992369	0.08076	0.3955054	0.134771827984119	0.17160	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.87	-0.52	0.11340	0.260000	0.18192	2.633000	0.33705	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.743000	0.35541	0.3365:0.1344:0.5291:0.0	6.087	0.19199	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003040	0.010309	0.002732	0.002941	0.000000	0.008772	0.000000	0.000000	0.02632	952.33	45	chr1	1047806	.	G	A	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=859;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.256;SOR=0.846	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr1	1048170	1048170	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon23:c.G3910A:p.A1304T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626538	not_provided|Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.115961597703	7.9e-05	.	7.977e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs375590400	6.729e-05	7.046e-05	6.399e-05	7.063e-05	0.0002	5.63e-05	5.232e-05	0.0001	9.013e-05	3.054e-05	0	0	0	0	0.0002	6.724e-05	8.426e-05	0.0002	5.915e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	5.844e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.651	0.04832	T	0.177	0.29740	T	.	.	.	.	.	.	0.009589	0.30291	N	0.263339	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-0.74	0.20791	N	0.094	0.07398	-1.0098	0.26981	T	0.168	0.50762	T	10	0.06380245	0.08366	T	0.115962	0.79531	D	0.067	0.19503	.	.	0.62380043238	0.62074	0.2750270993301686	0.27415	0.197183558091	0.22091	0.434752881527	0.29859	T	.	.	.	-0.372466	0.03471	T	-0.517752	0.20522	T	0.0112580247223377	0.00166	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	-4.676	0.33112	T	.	.	0.067	0.04436	B	.;.	.;.	0.864170	0.12365	8.905	0.51909772674365928	0.04649	0.07437	0.13455	N	AEFBI	0.034561	0.04303	N	-1.13487888642228	0.06032	0.276638	-1.08957773557398	0.07904	0.3864023	0.32800561236804	0.19455	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.93	2.89	0.32713	0.356000	0.19918	0.425000	0.18262	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.232:0.5235:0.2445:0.0	8.824	0.34200	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.005495	0.001374	0.000000	0.000000	0.000000	0.003165	0.007634	0.02632	1064.33	45	chr1	1048170	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.754;DP=814;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.106;SOR=0.534	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr1	1197681	1197681	C	T	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.C1856T:p.P619L,TTLL10:NM_001371649:exon16:c.C1856T:p.P619L	.	418	1087	16	1	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00219649	0.0070	0	0.0125	0	0	0.0036	0.02	0.0082	0.001022	158	154602	rs555101871	0.0065	0.0062	0.0064	0.0066	0.0090	0.0064	0.0063	0.0084	0.0082	0.0013	0.0012	0.0015	0	0.0107	0.0068	0.0069	0.0047	0.0090	0.0051	0.0051	0.0048	0.0054	0.0069	0.0048	0.0047	0.0063	0.0061	0.0011	0.0768	0.0019	0.0017	0.0002	0.0116	0.0171	0.0069	0.0019	0.0052	0.234	0.18061	T	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.76	0.21215	N	0.082	0.05799	-0.9387	0.42822	T	0.010	0.03537	T	9	0.003720343	0.00069	T	.	.	.	0.006	0.00375	.	.	0.0846915920261	0.08053	0.18763150132946943	0.18681	0.0274691007543	0.02809	0.656124472618	0.60855	T	0.004927	0.04354	T	-0.712889	0.00031	T	-0.791102	0.02134	T	0.00722743942552826	0.00083	T	0.372463	0.08834	T	0.019925069	0.00535	0.031236721	0.01685	0.019925069	0.00535	0.031236721	0.01685	-4.605	0.32234	T	.	.	0.073	0.04806	B	.;.	.;.	-1.159278	0.00573	0.014	0.68161817225738608	0.08574	0.00179	0.01050	N	AEFBI	0.019223	0.00648	N	-1.81101660615736	0.00519	0.02232936	-1.9368135914713	0.00413	0.01827502	0.775491163512729	0.23745	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.48	-2.96	0.05212	-5.520000	0.00139	-4.626000	0.02062	-4.093000	0.00043	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2286:0.4072:0.1702:0.194	1.026	0.01432	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006219	0.000000	0.000000	0.000000	0.000000	0.000000	0.013514	0.033333	0.05263	590.83	39	chr1	1197681	.	C	T	590.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.324;DP=585;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=2.27;SOR=0.653	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,944	17	0	2	0
chr1	1197725	1197725	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.G1900A:p.D634N,TTLL10:NM_001371649:exon16:c.G1900A:p.D634N	.	408	1113	1	0	0	1	0.000449035	.	.	.	2400405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00622953184831	.	.	0.0003	0.0051	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs764678592	3.044e-05	3.557e-05	2.146e-05	3.966e-05	0.0014	2.279e-05	2.021e-05	0.0006	0.0004	3.309e-05	0	0	2.889e-05	0	0.0014	2.048e-05	0.0001	7.648e-05	5.265e-05	5.254e-05	5.145e-05	5.39e-05	7.359e-05	2.561e-05	1.833e-05	2.849e-05	1.86e-05	2.417e-05	0	0	0	0	0	0	7.359e-05	0.0010	0	0.769	0.03392	T	0.484	0.11760	T	0.13	0.27095	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.22	0.04694	N	0.113	0.14763	-0.9368	0.43118	T	0.007	0.02598	T	9	0.006691724	0.00152	T	0.00623	0.16347	T	0.028	0.06331	.	.	0.0551355673512	0.04727	0.14277221885489827	0.14200	0.0310260877546	0.03212	0.755211651325	0.75217	T	0.005817	0.05268	T	-0.460168	0.00981	T	-0.898776	0.00511	T	0.0243485809430732	0.01189	T	0.516848	0.16688	T	0.019781964	0.00516	0.032798953	0.02071	0.019781964	0.00516	0.032798953	0.02071	-3.811	0.20969	T	.	.	0.085	0.10352	B	.;.	.;.	-0.249951	0.02846	0.399	0.78563695114821119	0.12355	0.00317	0.01669	N	AEFBI	0.020212	0.00775	N	-1.70289546789426	0.00832	0.03595954	-1.83024537578739	0.00667	0.02967556	0.921463793476817	0.26673	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	2.6	-5.19	0.02616	-2.565000	0.00993	-0.951000	0.06813	-1.000000	0.01814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3257:0.2839:0.2477:0.1427	0.934	0.01257	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	329.33	34	chr1	1197725	.	G	A	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=634;ExcessHet=0;FS=2.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.221;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	18	0	1	0
chr1	1212672	1212672	G	C	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon4:c.C403G:p.P135A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0281720310952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.08310	T	0.207	0.26969	T	0.053	0.22573	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.235	0.30780	L	1.0	0.41392	T	-1.41	0.34795	N	0.155	0.16028	-1.0132	0.25912	T	0.044	0.18742	T	9	0.050721765	0.04847	T	0.028172	0.50884	D	0.019	0.03383	0.252	0.19067	0.299770980665	0.29595	0.43165785380135496	0.43082	0.147009752136	0.16587	0.376572281122	0.21769	T	0.25469	0.62538	T	-0.238393	0.15554	T	-0.580211	0.14526	T	0.13436418936032	0.15779	T	0.591441	0.21800	T	0.10247607	0.24214	0.06472879	0.13016	0.10247607	0.24214	0.06472879	0.13015	-3.308	0.13841	T	0.41340978526035865	0.50335	0.071	0.03811	B	.	.	0.831720	0.12032	8.588	0.70608782249302515	0.09351	0.03361	0.08454	N	AEFDBI	0.105131	0.21015	N	-0.895685609138517	0.10945	0.5255889	-0.995093367029709	0.09895	0.4949975	0.998569004455424	0.37206	0.646311	0.45356	0	0.516746	0.08562	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.69	0.746	0.17514	0.080000	0.14657	3.146000	0.36504	-0.232000	0.07691	0.000000	0.06391	0.982000	0.30508	0.056000	0.15673	0.2846:0.0:0.5504:0.1651	4.495	0.11245	789	0.46346	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-like|Tumour necrosis factor receptor 4, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	633.33	34	chr1	1212672	.	G	C	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.494;DP=687;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.311;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	18	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07895	2220.79	36	chr1	1214100	.	G	A	2220.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.974;DP=760;ExcessHet=0.3672;FS=5.091;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.541;SOR=0.691	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1137	16	0	3	0
chr1	1217537	1217537	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016176:exon7:c.C1043T:p.A348V	.	.	.	.	.	.	.	.	.	.	.	2393822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0517235704221	0.0009	.	0.0004	0.0001	0.0002	0	0	0.0006	0	0	0.0003169	49	154602	rs113021852	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.966e-05	0.0004	0	0	0	0	0.0006	0.0003	2.321e-05	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	0.0002	0	6.545e-05	0.0003	0	0	0	0.0005	0	0	0.013	0.53900	D	0.019	0.59159	D	0.915	0.50599	P	0.475	0.46927	P	0.000005	0.62929	D	0.106710	1	0.81001	D	1.845	0.48678	L	0.56	0.54540	T	-2.48	0.54059	N	0.757	0.75559	-0.6390	0.63188	T	0.202	0.55850	T	10	0.44007713	0.58044	T	0.051724	0.64779	D	0.309	0.63055	.	.	0.432716982437	0.42889	0.7638698898342031	0.76334	1.11051116609	0.78043	0.717314004898	0.69655	T	0.578	0.86141	D	-0.0840739	0.39049	T	0.0185113	0.71533	D	0.121896213262687	0.14613	T	0.935706	0.75920	D	0.21119149	0.43437	0.22675106	0.47663	0.21119149	0.43437	0.22675106	0.47662	-9.676	0.71950	D	.	.	.	.	.	.	.	5.479827	0.91365	32	0.99929151714861397	0.99279	0.99831	0.99737	D	AEFDBI	0.942501	0.94715	D	0.589668203893177	0.72531	5.820113	0.600938530005324	0.75009	6.23516	0.999999999999908	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	9.570000	0.97330	9.807000	0.81726	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.0:1.0:0.0	17.258	0.86947	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2634.83	35	chr1	1217537	.	G	A	2634.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.7;DP=777;ExcessHet=0.119;FS=6.183;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.161;SOR=1.163	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1551,0,747	17	0	2	0
chr1	1217740	1217740	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016547:exon7:c.C956T:p.A319V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0007874129525	.	.	5.923e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs766571987	3.98e-05	3.967e-05	4.232e-05	3.726e-05	0.0005	3.123e-05	2.856e-05	0.0003	0.0003	0.0005	8.99e-05	0	2.533e-05	0	0.0003	2.071e-05	9.956e-05	4.652e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.173e-05	6.728e-05	0.0002	0.0001	0.0003	0	0.0003	0	0	0	0	2.941e-05	0	0	0.197	0.20607	T	0.209	0.26798	T	0.106	0.26037	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	2.66	0.12575	T	-0.7	0.19933	N	0.113	0.10056	-0.9780	0.35458	T	0.019	0.08173	T	8	0.032751292	0.01433	T	7.87E-4	0.00608	T	0.037	0.09474	.	.	0.21279746466	0.20884	.	.	.	.	.	.	.	.	.	.	-0.603208	0.00139	T	-0.730792	0.04292	T	0.00276323448003589	0.00029	T	0.384762	0.09420	T	.	.	.	.	.	.	.	.	-3.867	0.21809	T	.	.	.	.	.	.	.	0.347954	0.07210	3.805	0.90413320231706129	0.19674	0.02252	0.06522	N	AEFBI	0.031381	0.03347	N	-1.08371436518202	0.06943	0.3210774	-1.2540711922205	0.05071	0.2407664	0.855739796737966	0.25129	0.646311	0.45356	0	0.552637	0.17590	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.37	-2.34	0.06321	-0.234000	0.09044	-0.472000	0.08972	-0.273000	0.06669	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2768:0.3284:0.3948:0.0	2.351	0.04022	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	977.33	35	chr1	1217740	.	G	A	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=813;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.605;SOR=0.792	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr1	1244464	1244464	C	T	exonic	C1QTNF12	.	nonsynonymous SNV	C1QTNF12:NM_001014980:exon2:c.G211A:p.A71T	.	417	1103	2	0	0	2	0.000905797	.	.	.	3643798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.258779963812	7.7e-05	.	1.705e-05	0.0001	0	0	0	1.564e-05	0	0	2.59e-05	4	154602	rs148998510	7.262e-05	7.251e-05	7.362e-05	7.161e-05	0.0005	6.123e-05	5.708e-05	0.0001	7.55e-05	0	0	0	7.559e-05	0	0.0005	8.907e-05	1.658e-05	0	3.943e-05	4.594e-05	1.286e-05	6.721e-05	0.0002	1.716e-05	1.13e-05	1.973e-05	1.125e-05	2.41e-05	0	0	0	0	0	0	5.886e-05	0	0.0002	0.061	0.37118	T	0.141	0.33442	T	1.0	0.90584	D	0.983	0.75793	D	0.000384	0.44960	D	0.087452	0.523505	0.31917	D	.	.	.	0.93	0.44065	T	-1.46	0.35792	N	0.559	0.58373	-0.4374	0.70817	T	0.232	0.59782	T	10	0.6227639	0.68072	D	0.25878	0.89421	D	0.196	0.47777	.	.	0.435808882951	0.43200	0.3705487506600801	0.36968	0.408270968002	0.41671	0.662700235844	0.61796	T	0.028147	0.20454	T	-0.129934	0.31506	T	-0.241027	0.50699	T	0.869970321655273	0.51988	D	0.70393	0.31399	T	0.06948601	0.15226	0.12135122	0.29279	0.06948601	0.15226	0.12135122	0.29278	-5.894	0.45384	T	.	.	0.202	0.42692	B	.	.	4.023069	0.59433	24.1	0.9986633664832858	0.94457	0.79105	0.39136	D	AEFDBHCI	0.349792	0.44346	N	0.434838680910671	0.63350	4.566872	0.316711539407272	0.56520	3.815583	0.999999393208918	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	3.8	3.8	0.42887	0.962000	0.28877	7.414000	0.58665	0.592000	0.32167	0.282000	0.25160	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	11.438	0.49325	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	809.33	34	chr1	1244464	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.653;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.854;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1073	18	0	1	0
chr1	1286889	1286889	C	T	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon8:c.C1033T:p.H345Y	.	423	1075	22	1	1	25	0.0110396	.	.	.	3398020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	.	.	0.00119808	0.0019	9.986e-05	0.0007	0	0.0002	0.0007	0.0023	0.0101	0.0015977	247	154602	rs148117452	0.0011	0.0011	0.0007	0.0014	0.0094	0.0010	0.0010	0.0089	0.0086	8.961e-05	0.0007	0.0039	5.039e-05	1.92e-05	0.0052	0.0004	0.0015	0.0094	0.0009	0.0009	0.0007	0.0012	0.0077	0.0008	0.0007	0.0057	0.0050	0.0002	0	0.0024	0.0049	0	9.409e-05	0	0.0006	0.0009	0.0077	0.262	0.41637	T	1.0	0.01155	T	.	.	.	.	.	.	0.037078	0.01828	N	2.441200	1	0.08975	N	0.55	0.14455	N	-0.41	0.69413	T	-0.83	0.22727	N	0.166	0.17966	-0.9123	0.46569	T	0.143	0.46495	T	10	0.0034227073	0.00060	T	.	.	.	0.187	0.46274	.	.	0.339555952218	0.33569	0.33326753074032284	0.33239	.	.	0.270667314529	0.06228	T	.	.	.	-0.556223	0.00267	T	-0.564218	0.15983	T	0.00711258409317843	0.00081	T	0.365963	0.08520	T	0.045180015	0.07352	0.048875142	0.07350	0.045180015	0.07351	0.048875142	0.07350	-4.973	0.36546	T	.	.	0.087	0.11654	B	.;.;.;.	.;.;.;.	0.566176	0.09345	6.128	0.95268307766201532	0.26546	0.04335	0.09896	N	AEFBI	0.033356	0.03938	N	-1.06496014048218	0.07297	0.3385567	-1.01731280407141	0.09404	0.4677106	0.997047321650338	0.35225	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.38	3.21	0.35933	0.644000	0.24455	0.259000	0.16521	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1695:0.7222:0.0:0.1083	7.582	0.27137	774	0.48577	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.010101	0.006812	0.002959	0.000000	0.000000	0.003049	0.011364	0.02632	1609.33	34	chr1	1286889	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.309;DP=781;ExcessHet=0;FS=30.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.836;SOR=1.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1177:.	18	0	1	0
chr1	1295823	1295823	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon18:c.C1618T:p.R540W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.102389005156	7.7e-05	.	0.0002	0	0	0.0001	0	6.229e-05	0	0.0010	0.0001423	22	154602	rs143854090	7.817e-05	8.209e-05	4.913e-05	0.0001	0.0010	6.615e-05	6.157e-05	0.0008	0.0007	2.987e-05	0	0	2.519e-05	0	0.0003	2.069e-05	4.971e-05	0.0010	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.977e-05	2.412e-05	0	0	0	0	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.003	0.79402	D	0.998	0.90584	D	0.644	0.63631	P	0.606607	0.05677	N	1.254730	0.557505	0.37803	D	2.16	0.60381	M	1.52	0.30669	T	-2.87	0.66325	D	0.371	0.49237	-0.9915	0.32218	T	0.130	0.43907	T	10	0.15324163	0.28930	T	0.102389	0.77582	D	0.245	0.55201	.	.	0.289847578895	0.28608	0.5726682340490865	0.57194	0.733661856495	0.62852	0.559488296509	0.47196	T	0.32043	0.69162	T	-0.156705	0.27268	T	-0.0542205	0.66733	D	0.143227041010245	0.16550	T	0.90281	0.66017	D	0.12505588	0.29325	0.1239105	0.29872	0.12505588	0.29325	0.1239105	0.29872	-5.43	0.41207	T	.	.	0.116	0.30157	B	.;.	.;.	3.703851	0.52842	23.3	0.99886737203690235	0.96204	0.51793	0.28979	D	AEFBI	0.473984	0.51844	N	-0.0507677593760517	0.39568	2.335475	-0.153137880434177	0.33288	1.902582	0.22260515726993	0.18373	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.7	3.74	0.42108	0.334000	0.19529	2.572000	0.33370	-0.247000	0.07223	0.000000	0.06391	0.963000	0.29397	0.001000	0.02609	0.0:0.0:0.7201:0.2799	13.401	0.60327	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2952.81	34	chr1	1295823	.	G	A	2952.81	.	AC=2;AF=0.053;AN=38;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.1;SOR=1.216	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1199	18	1	0	0
chr1	1303203	1303203	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon3:c.C184T:p.R62C	.	434	1066	22	0	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0058	0.0109824	0.0173	0.0029	0.0920	0.0120	0	0.0121	0.0136	0.0082	0.0102651	1587	154602	rs145087137	0.0098	0.0098	0.0101	0.0096	0.0471	0.0097	0.0096	0.0454	0.0447	0.0024	0.0471	0.0179	0.0103	0.0009	0.0279	0.0090	0.0090	0.0059	0.0076	0.0076	0.0080	0.0072	0.0235	0.0072	0.0071	0.0215	0.0207	0.0025	0.0033	0.0235	0.0144	0.0068	0.0005	0.0238	0.0076	0.0175	0.0083	0.014	0.53172	D	0.111	0.42794	T	0.999	0.90584	D	0.807	0.63631	P	0.000002	0.62929	D	0.000000	0.995608	0.42768	D	1.905	0.50856	L	6.89	0.04446	T	-3.1	0.63554	D	0.793	0.78927	-1.1566	0.00842	T	0.008	0.02801	T	10	0.004399985	0.00090	T	.	.	.	0.113	0.31778	.	.	.	.	0.4656160404789092	0.46480	1.10122287715	0.77734	0.608934760094	0.54165	T	0.149929	0.48916	T	-0.401051	0.02279	T	-0.312353	0.43406	T	0.0229689569821304	0.01020	T	0.863414	0.55914	D	0.19107495	0.40719	0.16280355	0.37798	0.19107495	0.40719	0.16280355	0.37798	-11.683	0.83273	D	.	.	0.221	0.45224	B	.;.	.;.	5.262188	0.88351	29.6	0.9984607858335024	0.92576	0.94294	0.60709	D	AEFDBI	0.591001	0.58727	D	0.248984150455765	0.53588	3.52709	0.187298487634564	0.49151	3.121729	0.99994514814621	0.47345	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	3.498000	0.53064	7.399000	0.58563	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.8041:0.1959	10.408	0.43461	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017172	0.025253	0.012262	0.047059	0.000000	0.017544	0.009146	0.003788	0.02632	594.33	40	chr1	1303203	.	G	A	594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.657;DP=683;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.35;SOR=0.243	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1051	18	0	1	0
chr1	1311010	1311010	C	G	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon7:c.C870G:p.H290Q,PUSL1:NM_153339:exon7:c.C801G:p.H267Q	.	406	1095	21	0	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0013	0.0081869	0.0077	0.0005	0.0490	0.0069	0	0.0029	0.0045	0.0063	0.0070633	1092	154602	rs144555782	0.0040	0.0040	0.0040	0.0040	0.0411	0.0039	0.0039	0.0395	0.0389	0.0012	0.0411	0.0118	0.0103	0.0002	0.0267	0.0021	0.0045	0.0058	0.0039	0.0039	0.0038	0.0041	0.0189	0.0037	0.0036	0.0171	0.0164	0.0008	0.0033	0.0189	0.0092	0.0069	9.413e-05	0.0238	0.0021	0.0080	0.0083	0.314	0.13834	T	0.291	0.20944	T	0.784	0.44396	P	0.377	0.43762	B	0.002963	0.00929	N	3.413200	1	0.08975	N	0.595	0.15482	N	0.61	0.53516	T	-1.08	0.28084	N	0.263	0.29774	-1.0544	0.13198	T	0.031	0.13418	T	10	0.0031905472	0.00054	T	.	.	.	0.075	0.21907	0.363	0.36874	0.166414681773	0.16258	0.3177858859180514	0.31691	0.0892768414165	0.10086	0.41160517931	0.26678	T	0.018173	0.14695	T	-0.581168	0.00190	T	-0.575449	0.14953	T	0.0115784722198555	0.00176	T	0.608539	0.22995	T	0.069252	0.15157	0.049437147	0.07554	0.069252	0.15157	0.049437147	0.07553	-9.089	0.68267	D	.	.	0.201	0.42448	B	.;.	.;.	0.992398	0.13703	10.24	0.60160038095682122	0.06396	0.18174	0.20150	N	AEFBCI	0.134803	0.25493	N	-1.02056430156669	0.08178	0.3825228	-1.1600891790449	0.06589	0.3176404	0.999991054311857	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.66	0.07824	-2.273000	0.01246	-0.336000	0.09852	-0.805000	0.03119	0.000000	0.06391	0.090000	0.22521	0.011000	0.09372	0.0:0.4722:0.0:0.5278	8.095	0.29983	774	0.48577	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.015152	0.010899	0.043860	0.000000	0.008621	0.009146	0.007576	0.02632	2829.33	43	chr1	1311010	.	C	G	2829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=934;ExcessHet=0;FS=2.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.622;SOR=0.715	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr1	1315610	1315610	A	C	exonic	INTS11	.	nonsynonymous SNV	INTS11:NM_001256462:exon3:c.T144G:p.D48E,INTS11:NM_001256463:exon3:c.T135G:p.D45E,INTS11:NM_017871:exon5:c.T438G:p.D146E,INTS11:NM_001256460:exon6:c.T351G:p.D117E,INTS11:NM_001256456:exon7:c.T456G:p.D152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0154136012444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	3.834e-05	7.562e-05	0	0.0002	0.0002	6.641e-05	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.29029	T	0.5	0.24264	T	0.0	0.09854	B	0.005	0.16012	B	0.000028	0.55875	N	0.155416	0.99038	0.81001	D	0.525	0.13617	N	0.92	0.79666	T	-1.98	0.48850	N	0.154	0.21319	-1.0253	0.21985	T	0.246	0.61542	T	10	0.116285294	0.21931	T	0.015414	0.36125	T	0.136	0.36778	0.471	0.54537	0.346992582518	0.34303	0.35717973400585923	0.35631	0.498122856725	0.48292	0.613720953465	0.54842	T	0.080914	0.36476	T	-0.104333	0.35708	T	-0.387644	0.34828	T	0.259605556726456	0.23297	T	0.863014	0.61235	D	0.17811784	0.38814	0.06305662	0.12434	0.17811784	0.38813	0.06305662	0.12434	-1.076	0.07354	T	.	.	0.074	0.17275	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.581160	0.01623	0.112	0.94462933017020856	0.24903	0.30868	0.24193	N	ALL	0.098578	0.19861	N	-1.50307596989521	0.01829	0.08021294	-1.63354689133372	0.01463	0.06619128	0.99999999999989	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.74	-8.98	0.00647	-0.266000	0.08660	-1.778000	0.04743	-0.629000	0.04519	0.203000	0.24344	0.000000	0.08366	0.290000	0.24260	0.2974:0.3049:0.3976:0.0	8.768	0.33872	774	0.48577	.;.;Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase;Metallo-beta-lactamase;.;Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	60.33	35	chr1	1315610	.	A	C	60.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.314;DP=723;ExcessHet=0;FS=24.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=4.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	18	0	1	0
chr1	1327705	1327705	G	A	exonic	CPTP	.	nonsynonymous SNV	CPTP:NM_001029885:exon3:c.G587A:p.R196H	.	420	1091	11	0	0	11	0.00501596	.	.	.	2805477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0029	0.00539137	0.0073	0.0015	0.0005	0.0001	0.0639	0.0040	0.0137	0.0095	0.0061383	949	154602	rs150672559	0.0053	0.0053	0.0052	0.0054	0.0096	0.0052	0.0052	0.0090	0.0088	0.0012	0.0005	3.828e-05	0.0006	0.0623	0.0069	0.0030	0.0038	0.0096	0.0074	0.0074	0.0046	0.0103	0.0072	0.0070	0.0069	0.0054	0.0047	0.0014	0	0.0009	0	0.0002	0.0759	0.0034	0.0031	0.0024	0.0072	0.267	0.16198	T	0.143	0.33219	T	0.004	0.12183	B	0.001	0.04355	B	0.908262	0.08571	N	0.953087	1	0.08975	N	0.58	0.15352	N	.	.	.	-0.77	0.21429	N	0.077	0.05162	-1.0599	0.11781	T	0.049	0.20987	T	9	0.0027572215	0.00043	T	.	.	.	0.165	0.42395	.	.	0.15556083564	0.15200	0.3042499643261352	0.30337	0.159076953761	0.17949	0.190905958414	0.00241	T	0.139094	0.47294	T	-0.645853	0.00077	T	-0.692966	0.06219	T	0.0043057328636276	0.00046	T	0.684232	0.29249	T	0.09764093	0.23018	0.14121509	0.33636	0.09764093	0.23017	0.14121509	0.33635	-5.096	0.37865	T	.	.	0.064	0.01622	B	.	.	0.282895	0.06599	3.089	0.88497534075742779	0.18024	0.02891	0.07678	N	AEFDBCI	0.106102	0.21181	N	-1.39097454191824	0.02722	0.1205953	-1.50454749327606	0.02309	0.1059861	0.999961495446834	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	-7.41	0.01247	0.852000	0.27417	-1.609000	0.05069	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.8013:0.0:0.1987:0.0	17.372	0.87270	764	0.49969	.	.	.	.	.	rs150672559	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.002725	0.002924	0.000000	0.008621	0.006098	0.011364	0.02632	1242.33	93	chr1	1327705	.	G	A	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1444;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.295;SOR=0.576	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr1	1333008	1333008	G	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon4:c.G1363A:p.D455N	.	417	1102	3	0	0	3	0.00135931	.	.	.	2320314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.287	0.22177510327	0.0008	0.000599042	0.0006	0.0001	0.0004	0	0.0003	0.0008	0	0.0003	0.0005692	88	154602	rs149099807	0.0009	0.0009	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	8.962e-05	0.0005	3.828e-05	0	0.0005	0	0.0010	0.0007	0.0004	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0005	0	0	0.0005	0	0.0010	0.0009	0.0002	0.318	0.13654	T	0.694	0.05844	T	0.711	0.42090	P	0.107	0.31211	B	0.028638	0.01688	N	2.530250	0.624499	0.32734	D	2.17	0.60663	M	-1.65	0.82625	D	-2.15	0.48687	N	0.343	0.38438	-0.3874	0.72423	T	0.408	0.75727	T	10	0.07403928	0.11266	T	0.221775	0.87822	D	0.287	0.60574	.	.	0.361758802978	0.35793	0.5395577922530935	0.53880	.	.	0.377478718758	0.21898	T	0.259208	0.63044	T	-0.283799	0.10269	T	-0.264707	0.48352	T	0.0196925182735628	0.00671	T	0.715628	0.32820	T	0.10825562	0.25596	0.071433745	0.15297	0.10825562	0.25595	0.071433745	0.15297	-6.687	0.51712	T	.	.	0.155	0.34205	B	.	.	2.437556	0.31368	18.72	0.99255688880673676	0.57022	0.13508	0.17896	N	AEFDBHCIJ	0.043932	0.07006	N	-0.112060896423575	0.36868	2.136887	-0.101845774457812	0.35317	2.041747	0.999999936682533	0.74766	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	4.86	3.94	0.44807	1.565000	0.35993	4.359000	0.43112	0.575000	0.29119	0.199000	0.24297	1.000000	0.68203	0.378000	0.26290	0.243:0.0:0.757:0.0	7.537	0.26885	774	0.48577	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2293.33	82	chr1	1333008	.	G	A	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=1379;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.062;SOR=0.726	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	0	1	0
chr1	1334233	1334235	CTC	-	exonic	TAS1R3	.	nonframeshift deletion	TAS1R3:NM_152228:exon6:c.2328_2330del:p.S777del	.	384	1132	6	0	0	6	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	0.0015	0	0.0004	0	0.0016	0.0023	0	0.0013	0.0001921	5	26028	rs531899606	0.0015	0.0015	0.0015	0.0015	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0004	0.0003	0	0.0009	0.0009	0.0018	0.0008	0.0007	0.0012	0.0012	0.0013	0.0010	0.0019	0.0010	0.0010	0.0016	0.0015	0.0002	0.0154	0.0003	0.0006	0	0.0014	0	0.0018	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2700.29	42	chr1	1334232	.	TCTC	T	2700.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=992;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=1.3;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1402	18	0	1	0
chr1	1374181	1374181	C	G	exonic	AURKAIP1	.	nonsynonymous SNV	AURKAIP1:NM_001127229:exon3:c.G317C:p.S106T,AURKAIP1:NM_001127230:exon3:c.G317C:p.S106T,AURKAIP1:NM_017900:exon3:c.G317C:p.S106T	.	.	.	.	.	.	.	.	.	.	.	2242972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0200227541325	7.7e-05	.	7.428e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs369816391	5.884e-05	5.883e-05	6.263e-05	5.501e-05	0.0028	4.877e-05	4.497e-05	0.0017	0.0014	5.974e-05	6.708e-05	0	0	1.884e-05	0.0028	4.496e-05	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.708e-05	0.0002	0.0001	2.404e-05	0	0.0004	0	0	0	0	0.0002	0.0009	0	0.445	0.09128	T	0.475	0.12072	T	0.039	0.21116	B	0.01	0.14941	B	0.111830	0.19383	N	0.531595	1	0.08975	N	2.19	0.61577	M	0.88	0.46028	T	-1.44	0.35399	N	0.177	0.19055	-1.0200	0.23715	T	0.089	0.34243	T	10	0.059037864	0.07035	T	0.020023	0.42524	T	0.057	0.16321	.	.	0.438383285633	0.43460	0.08234081586163174	0.08169	0.287816497828	0.31183	0.398357570171	0.24840	T	0.03251	0.22518	T	-0.462233	0.00952	T	-0.632442	0.10231	T	0.0517847994376873	0.05810	T	0.466753	0.13720	T	0.09542208	0.22457	0.077658884	0.17321	0.09542208	0.22456	0.077658884	0.17321	-3.939	0.22888	T	0.4356721696631799	0.52206	0.090	0.13032	B	.;.;.;.	.;.;.;.	1.182846	0.15737	12.07	0.69595531065135874	0.09022	0.10202	0.15773	N	AEFDBCI	0.148513	0.27242	N	-0.736676885994339	0.14997	0.7519811	-0.754740189441515	0.15606	0.8216064	0.999909946147634	0.45458	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.06	4.14	0.47821	0.561000	0.23220	0.210000	0.15951	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7193:0.1867:0.0941	7.243	0.25281	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2239.33	36	chr1	1374181	.	C	G	2239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=832;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.075;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr1	1419158	1419158	G	A	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001145210:exon4:c.C1142T:p.A381V	.	419	1053	49	1	0	51	0.0236439	.	.	.	2805485	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	.	0.00399361	0.0098	0.0009	0	0.0020	0	0.0089	0.0152	0.0132	0.0014295	221	154602	rs185838741	0.0032	0.0030	0.0029	0.0035	0.0152	0.0031	0.0031	0.0126	0.0116	0.0004	0.0050	0.0111	8.462e-05	0.0002	0.0152	0.0026	0.0044	0.0096	0.0026	0.0026	0.0025	0.0028	0.0089	0.0024	0.0023	0.0068	0.0060	0.0006	0.0022	0.0043	0.0124	0.0004	0	0.0136	0.0030	0.0047	0.0089	1.0	0.00964	T	0.565	0.08961	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	0.21	0.04776	N	0.051	0.02272	-1.0608	0.11557	T	0.073	0.29675	T	9	0.002860576	0.00046	T	.	.	.	0.029	0.06676	.	.	0.0401082797425	0.02173	0.2554336714957737	0.25457	.	.	0.436058402061	0.30039	T	0.002318	0.01710	T	-0.638598	0.00085	T	-0.683114	0.06795	T	0.000585412339857197	0.00005	T	0.272373	0.04609	T	0.01873701	0.00396	0.031370908	0.01718	0.01873701	0.00396	0.031370908	0.01717	-3.897	0.22258	T	.	.	0.085	0.10256	B	.;.	.;.	-0.576677	0.01637	0.114	0.5647402424843313	0.05560	0.01396	0.04737	N	AEFDBCI	0.032353	0.03640	N	-1.71344732906075	0.00795	0.03435849	-1.82266737138785	0.00689	0.0306899	0.999999114923721	0.74766	0.646311	0.45356	0	0.655437	0.61614	1	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.36	-6.72	0.01591	-3.435000	0.00524	-2.759000	0.03391	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1274:0.1153:0.5451:0.2123	2.814	0.05116	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013648	0.012821	0.000000	0.004425	0.000000	0.062500	0.006250	0.065789	0.02632	1072.33	33	chr1	1419158	.	G	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.085;DP=1053;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.029;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	1454412	1454412	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.G290A:p.R97H	.	421	1083	17	1	0	19	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	.	.	0.00139776	0.0025	0.0003	0	0	0	0.0002	0.0018	0.0151	0.0013519	209	154602	rs572992447	0.0007	0.0008	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	0.0001	0	3.842e-05	5.058e-05	0	0.0028	6.845e-05	0.0009	0.0110	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0056	9.64e-05	0	0	0	0	0	0	0.0001	0	0.0083	0.009	0.57480	D	0.021	0.58089	D	1.0	0.90584	D	0.977	0.73820	D	0.000004	0.62929	D	0.062588	1	0.81001	D	2.565	0.75005	M	-3.46	0.94508	D	-4.46	0.77798	D	0.897	0.89689	0.933	0.96150	D	0.896	0.96548	D	10	0.019578815	0.00439	T	.	.	.	0.618	0.85144	.	.	0.935268674465	0.93459	0.19201238412604044	0.19119	0.521599372419	0.49927	0.629859805107	0.57126	T	0.098024	0.40143	T	-0.154887	0.27549	T	0.0141335	0.71251	D	0.137434613019176	0.16052	T	0.884811	0.60904	D	0.25087216	0.48092	0.14501208	0.34407	0.25087216	0.48092	0.14501208	0.34406	-11.074	0.80062	D	.	.	0.097	0.15877	B	.	.	4.657239	0.74301	26.1	0.99822682572362342	0.90502	0.96042	0.67270	D	AEFBI	0.729799	0.67740	D	0.26968118462816	0.54619	3.627008	0.0261499274633535	0.40931	2.450857	0.22694625616664	0.18421	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.625000	0.90736	6.599000	0.56050	-0.329000	0.05792	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.118	0.41778	867	0.32089	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005073	0.000000	0.000000	0.000000	0.000000	0.000000	0.010563	0.023810	0.05263	3691.83	43	chr1	1454412	.	G	A	3691.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=916;ExcessHet=0.119;FS=1.062;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.92;MQRankSum=-1.423;QD=15.91;ReadPosRankSum=-0.17;SOR=0.604	GT:AD:DP:GQ:PL	0/1:45,74:119:99:1967,0,948	17	0	2	0
chr1	1468449	1468450	CT	-	exonic	ATAD3C	.	frameshift deletion	ATAD3C:NM_001039211:exon12:c.1155_1156del:p.F386Cfs*88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762558397	2.259e-05	2.531e-05	1.634e-05	2.89e-05	0.0002	1.611e-05	1.417e-05	0.0001	9.464e-05	0	0	0	2.52e-05	0	0	1.349e-05	1.657e-05	0.0002	2.631e-05	2.627e-05	1.285e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1341.29	33	chr1	1468448	.	ACT	A	1341.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.299;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-4.313;QD=23.13;ReadPosRankSum=1.76;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1214:.	18	0	1	0
chr1	1468451	1468451	-	GC	exonic	ATAD3C	.	frameshift insertion	ATAD3C:NM_001039211:exon12:c.1157_1158insGC:p.F386Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.713e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs768174602	2.259e-05	2.531e-05	1.635e-05	2.89e-05	0.0002	1.611e-05	1.417e-05	0.0001	9.464e-05	0	0	0	2.521e-05	0	0	1.35e-05	1.657e-05	0.0002	2.631e-05	2.627e-05	1.286e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1341.29	33	chr1	1468451	.	T	TGC	1341.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.286;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-4.313;QD=23.13;ReadPosRankSum=1.94;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1214:.	18	0	1	0
chr1	1471966	1471966	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_031921:exon1:c.G82A:p.G28R	.	436	1073	13	0	0	13	0.00602131	.	.	.	2238038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.533	0.96297662518	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766445790	0.0004	0.0004	0.0004	0.0004	0.0036	0.0004	0.0003	0.0029	0.0027	0.0005	0.0001	0.0092	0	2.98e-05	0.0035	0.0002	0.0011	0.0036	0.0005	0.0005	0.0005	0.0005	0.0034	0.0004	0.0004	0.0021	0.0017	0.0004	0	6.587e-05	0.0078	0	0	0	0.0002	0.0014	0.0034	0.068	0.35726	T	0.013	0.63109	D	0.993	0.65571	D	0.809	0.58564	P	0.000032	0.55875	D	0.119337	1	0.81001	D	1.845	0.48678	L	-3.46	0.94508	D	-2.05	0.47008	N	0.38	0.42149	0.748	0.93769	D	0.851	0.95028	D	10	0.19638473	0.35527	T	0.962977	0.99761	D	0.533	0.80367	0.245	0.17984	0.804452295794	0.80261	0.05583717933078997	0.05524	2.1004962454	0.94829	0.903321623802	0.96799	D	0.04557	0.27163	T	0.168	0.70911	D	0.0031128	0.70537	D	0.888357698917389	0.53894	D	0.826617	0.49005	T	0.111015305	0.26236	0.1303146	0.31316	0.111015305	0.26236	0.1303146	0.31315	-4.428	0.29934	T	.	.	0.163	0.35931	B	.	.	4.752258	0.76745	26.6	0.9981102648782445	0.89531	0.95263	0.64045	D	AEFDGBCI	0.684661	0.64693	D	0.350488732764779	0.58764	4.050884	0.237747216468909	0.51955	3.373792	0.999999999996478	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.65	2.65	0.30588	4.361000	0.59235	10.979000	0.84589	0.494000	0.22454	0.987000	0.36337	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	11.952	0.52245	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007031	0.000000	0.000000	0.000000	0.000000	0.014286	0.004274	0.038462	0.02632	349.33	14	chr1	1471966	.	G	A	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=637;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.16;MQRankSum=-4.278;QD=8.73;ReadPosRankSum=0.249;SOR=0.941	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,109,1078	18	0	1	0
chr1	1478563	1478563	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon1:c.G64A:p.G22R	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0030	0	0	0	0.0005	7.76e-05	12	154602	rs774308351	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0001	0.0026	0.0025	3.162e-05	0.0001	0	0.0031	2.033e-05	0.0004	5.286e-05	0.0004	0.0005	0.0001	0.0001	0.0002	9.44e-05	0.0023	9.766e-05	8.277e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1344.33	33	chr1	1478563	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=719;ExcessHet=0;FS=7.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=0.342;QD=15.28;ReadPosRankSum=0.849;SOR=1.44	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,962	18	0	1	0
chr1	1520197	1520197	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G571A:p.A191T,ATAD3A:NM_001170536:exon6:c.G334A:p.A112T,ATAD3A:NM_018188:exon6:c.G715A:p.A239T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	414	1078	30	0	0	30	0.0137237	.	.	YES	794417	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	.	.	0.0044	0.0256	0.0027	0.0005	0.0015	0.0032	0.0013	0.0021	0.0002587	40	154602	rs2986576	0.0010	0.0025	0.0009	0.0010	0.0038	0.0009	0.0009	0.0025	0.0021	0.0006	0.0009	0.0012	0.0001	0.0011	0.0038	0.0010	0.0013	0.0005	0.0021	0.0035	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0019	0	0.0010	0.0020	0.0004	0.0010	0	0.0028	0.0043	0.0004	0.059	0.43393	T	0.045	0.50514	D	0.254	0.31272	B	0.247	0.38902	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.095	0.87515	M	2.25	0.19860	T	-2.99	0.62151	D	0.787	0.78737	0.372	0.88676	D	0.557	0.83854	D	10	0.013066947	0.00278	T	.	.	.	0.274	0.59007	.	.	0.621583459065	0.61851	0.6255127610254827	0.62484	0.383871402863	0.39705	0.69321680069	0.66168	T	0.225816	0.59066	T	0.00522786	0.52374	T	-0.230267	0.51746	T	0.10931204842641	0.13352	T	0.822018	0.48145	T	0.270079	0.50080	0.32427993	0.58353	0.25576767	0.48613	0.3278964	0.58683	-7.068	0.64151	T	0.4525980482247435	0.53616	0.148	0.45665	B	.;.;.	.;.;.	3.855226	0.55878	23.7	0.99634795245590502	0.76264	0.99612	0.97981	D	AEFDBI	0.917445	0.88506	D	0.45375012847299	0.64417	4.695684	0.389016773231514	0.60886	4.281534	0.999999949567692	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	9.253000	0.94694	9.568000	0.81006	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:0.0:1.0:0.0	15.785	0.78065	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015812	0.026882	0.016349	0.008264	0.000000	0.025862	0.009868	0.011628	0.05263	461.83	38	chr1	1520197	.	G	A	461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1247;ExcessHet=0.119;FS=18.492;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.68;MQRankSum=-9.443;QD=0.97;ReadPosRankSum=-1.814;SOR=2.394	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	17	0	2	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R,ATAD3A:NM_001170536:exon7:c.T493C:p.W165R,ATAD3A:NM_018188:exon7:c.T874C:p.W292R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	415	1085	22	0	0	22	0.0100365	.	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002160	0.000000	0.004087	0.004167	0.111111	0.008621	0.003165	0.000000	0.02632	63.33	38	chr1	1520597	.	T	C	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.316;DP=958;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-14.24;QD=0.24;ReadPosRankSum=4.1;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr1	1525277	1525277	C	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon12:c.C1252T:p.R418W,ATAD3A:NM_001170536:exon12:c.C1015T:p.R339W,ATAD3A:NM_018188:exon12:c.C1396T:p.R466W	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	412	1109	1	0	0	1	0.000450653	.	.	.	2203208	Inborn_genetic_diseases|Harel-Yoon_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	0.102856342077	0.0002	0.000199681	0.0002	9.649e-05	0	0.0001	0	0.0001	0	0.0011	0.0002005	31	154602	rs139254288	0.0001	0.0001	8.305e-05	0.0001	0.0014	9.604e-05	9.084e-05	0.0007	0.0007	0.0002	2.236e-05	0	0.0003	0	0.0014	3.867e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0006	9.152e-05	7.706e-05	0.0002	0.0001	0.0003	0	0	0	0.0002	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.023	0.63109	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.54805	D	4.045	0.97016	H	-3.26	0.93587	D	-7.36	0.95511	D	0.741	0.77039	0.138	0.84855	D	0.550	0.83527	D	10	0.67505985	0.70941	D	0.102856	0.77656	D	0.743	0.91112	.	.	0.948121439518	0.94758	0.8804251713247512	0.88010	0.596502844283	0.54888	0.823670804501	0.85590	D	0.746203	0.95748	D	0.123577	0.66728	D	0.348386	0.90253	D	0.369482979668987	0.27777	T	0.987201	0.97673	D	0.65672094	0.75723	0.48456365	0.70163	0.65672094	0.75724	0.48456365	0.70164	-14.331	0.94083	D	0.7462835926538849	0.82838	0.483	0.63820	A	.;.;.;.	.;.;.;.	3.524873	0.49431	22.8	0.99728345898339754	0.82549	0.36526	0.25553	N	AEFGBI	0.587077	0.58487	D	-0.186267832213533	0.33706	1.915303	-0.312275443445523	0.27702	1.539042	0.035677837938269	0.14211	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	2.42	0.28720	0.295000	0.18821	1.829000	0.29100	-0.302000	0.06182	0.771000	0.29368	0.499000	0.25194	0.002000	0.04165	0.6825:0.3175:0.0:0.0	10.867	0.46067	846	0.36215	.;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	4474.83	33	chr1	1525277	.	C	T	4474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=948;ExcessHet=0.119;FS=1.82;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.021;SOR=0.711	GT:AD:DP:GQ:PL	0/1:73,116:189:99:2909,0,1574	17	0	2	0
chr1	1534032	1534032	C	G	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon16:c.C1721G:p.A574G,ATAD3A:NM_001170536:exon16:c.C1484G:p.A495G,ATAD3A:NM_018188:exon16:c.C1865G:p.A622G	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	410	1108	2	0	2	4	0.000901713	.	.	.	2395721	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.198841609565	.	.	4.165e-05	0	8.675e-05	0	0	1.522e-05	0	0.0002	3.23e-05	5	154602	rs145341309	8.555e-05	0.0001	8.989e-05	8.116e-05	0.0002	7.315e-05	6.819e-05	0.0001	7.819e-05	0	0.0002	3.828e-05	2.519e-05	0	0.0002	8.725e-05	6.624e-05	0.0001	5.916e-05	9.193e-05	6.426e-05	5.381e-05	0.0001	3.078e-05	2.211e-05	5.845e-05	4.241e-05	0	0	0	0	0	9.407e-05	0	0.0001	0	0	0.561	0.08140	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.035403	0.24647	U	0.390634	1	0.08975	N	-0.055	0.04927	N	-3.22	0.94658	D	-0.87	0.23590	N	0.202	0.23632	-0.4859	0.69154	T	0.546	0.83322	D	9	0.079940975	0.12917	T	0.198842	0.86618	D	0.241	0.54641	0.273	0.22369	0.801013483264	0.79915	0.4079095947011042	0.40706	0.466828294112	0.46077	0.268144786358	0.05900	T	0.002937	0.02330	T	-0.12352	0.32548	T	-0.212551	0.53451	T	0.0129565298557281	0.00224	T	0.0950905	0.00708	T	0.03255954	0.03305	0.031832937	0.01828	0.03255954	0.03305	0.031832937	0.01828	-3.442	0.22467	T	0.11854777705139438	0.10949	0.075	0.06433	B	.;.;.	.;.;.	0.165043	0.05550	2.008	0.55592290280966605	0.05374	0.22905	0.21902	N	AEFDBHI	0.181009	0.30832	N	-1.15286408726582	0.05733	0.2621302	-1.14850752568612	0.06795	0.3282803	0.0601689656719551	0.15187	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.9	1.82	0.24209	2.221000	0.42559	-0.911000	0.06955	-0.338000	0.05727	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	0.0:0.7682:0.0:0.2318	7.186	0.24975	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	886.33	47	chr1	1534032	.	C	G	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.022;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=0.926;QD=9.96;ReadPosRankSum=-0.363;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr1	1599376	1599376	G	T	exonic	FNDC10	.	nonsynonymous SNV	FNDC10:NM_001242659:exon1:c.C640A:p.R214S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000199681	0.0003	0.0101	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs565283872	1.668e-05	1.779e-05	4.297e-06	2.939e-05	0.0002	1.111e-05	9.28e-06	0.0001	8.504e-05	0	0	0	0	0	0.0002	6.497e-06	1.736e-05	0.0002	1.976e-05	1.971e-05	1.289e-05	2.696e-05	0.0004	5.25e-06	2.46e-06	7.33e-05	3.044e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.677	0.04469	T	0.627	0.07267	T	.	.	.	.	.	.	.	.	.	.	0.998201	0.22293	N	.	.	.	.	.	.	-0.35	0.12847	N	0.056	0.02759	-1.0206	0.23519	T	0.038	0.16290	T	6	0.006065905	0.00136	T	.	.	.	0.026	0.05648	0.296	0.26041	0.0611884634855	0.05136	0.6327815123752162	0.63212	.	.	.	.	.	0.002967	0.02360	T	-0.367319	0.03732	T	-0.528736	0.19413	T	0.0413914094315572	0.03943	T	0.443756	0.12347	T	0.13689983	0.31719	0.10336422	0.24799	0.13689983	0.31719	0.10336422	0.24799	-3.714	0.19525	T	.	.	0.205	0.43032	B	.	.	2.663516	0.34704	19.70	0.65463607175718497	0.07780	0.80973	0.40478	D	AEFDBCIJ	0.426314	0.49072	N	-0.256507759344849	0.30844	1.72374	-0.150931210717898	0.33372	1.908309	0.999785820909814	0.43007	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.600526	0.37237	0	.	.	4.13	3.19	0.35720	1.130000	0.31007	8.066000	0.76420	0.511000	0.23309	0.999000	0.42656	1.000000	0.68203	0.865000	0.41091	0.0:0.0:0.6557:0.3443	10.672	0.44959	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	40	chr1	1599376	.	G	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.013;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.156;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr1	1616568	1616568	C	G	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170686:exon2:c.C64G:p.P22A,MIB2:NM_001170687:exon2:c.C64G:p.P22A,MIB2:NM_001170688:exon2:c.C235G:p.P79A,MIB2:NM_080875:exon2:c.C64G:p.P22A	.	424	1092	5	1	0	7	0.00319489	.	.	.	718334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0042	0.00599042	0.0022	0.0270	0.0009	0	0	2.409e-05	0	8.003e-05	0.0014877	230	154602	rs138429382	0.0005	0.0005	0.0006	0.0005	0.0178	0.0005	0.0005	0.0166	0.0161	0.0178	0.0010	0	0	0	0.0021	1.896e-05	0.0015	4.709e-05	0.0052	0.0052	0.0053	0.0051	0.0178	0.0049	0.0048	0.0168	0.0163	0.0178	0	0.0018	0	0	0	0	0.0001	0.0047	0.0004	0.196	0.47320	T	0.04	0.50809	D	.	.	.	.	.	.	0.405221	0.04559	U	2.197280	1	0.23428	N	.	.	.	1.47	0.41058	T	-0.94	0.25332	N	0.157	0.17966	-1.0587	0.12083	T	0.014	0.05561	T	10	0.0026254654	0.00040	T	.	.	.	0.015	0.02232	.	.	0.0482279557977	0.04254	0.03094183437284905	0.03043	0.42636690805	0.43014	0.482061028481	0.36341	T	.	.	.	-0.641124	0.00082	T	-0.679426	0.07019	T	0.00285081681885116	0.00030	T	0.535646	0.17968	T	.	.	.	.	.	.	.	.	-3.485	0.16320	T	.	.	0.061	0.01367	B	.;.;.;.	.;.;.;.	1.021942	0.14015	10.58	0.9058570114389658	0.19839	0.04439	0.10038	N	AEFDGBCI	0.036294	0.04813	N	-1.10195674598134	0.06608	0.3046884	-1.11130479002373	0.07484	0.3641775	0.999979804691176	0.50053	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	2.63	0.558	0.16454	0.890000	0.27931	-0.004000	0.13159	0.463000	0.21641	0.280000	0.25141	0.019000	0.20708	0.008000	0.08271	0.0:0.5894:0.2543:0.1563	3.810	0.08309	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002020	0.005155	0.002725	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	393.33	37	chr1	1616568	.	C	G	393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.232;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,928	18	0	1	0
chr1	1626889	1626889	G	A	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon9:c.G1280A:p.R427H,MIB2:NM_001170689:exon9:c.G935A:p.R312H,MIB2:NM_001170686:exon10:c.G1292A:p.R431H,MIB2:NM_001170687:exon10:c.G1262A:p.R421H,MIB2:NM_080875:exon10:c.G1304A:p.R435H	.	.	.	.	.	.	.	.	.	.	.	3992983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.371	0.115846093797	.	0.000399361	0.0003	0	0	0.0001	0	0	0	0.0023	0.0002523	39	154602	rs578020266	0.0001	0.0001	9.17e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	2.988e-05	0	0	0.0002	4.275e-05	0	4.498e-06	0.0002	0.0017	7.877e-05	7.873e-05	0.0001	5.37e-05	0.0008	4.492e-05	3.509e-05	0.0003	0.0002	2.405e-05	0	0	0	0.0004	0	0	1.47e-05	0.0019	0.0008	0.003	0.78490	D	0.001	0.92824	D	0.994	0.66517	D	0.863	0.61398	P	0.000004	0.62929	D	0.062767	0.999998	0.58761	D	.	.	.	1.19	0.68030	T	-4.3	0.77061	D	0.315	0.39254	0.160	0.85225	D	0.508	0.81493	D	10	0.04305017	0.03115	T	0.115846	0.79515	D	0.371	0.69016	.	.	0.776052718102	0.77399	0.6757008279118377	0.67508	0.438772722317	0.43904	0.452605366707	0.32300	T	.	.	.	-0.291618	0.09475	T	-0.19845	0.54794	T	0.148520651758167	0.16985	T	0.977802	0.94093	D	.	.	.	.	.	.	.	.	-11.861	0.85911	D	.	.	0.139	0.37596	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.503684	0.70462	25.5	0.9994617029386933	0.99901	0.98633	0.84938	D	AEFGBI	0.860576	0.77846	D	0.623442644688321	0.74659	6.170547	0.534738297534631	0.70343	5.491246	0.99999999997885	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.59	4.59	0.56297	6.367000	0.73038	7.454000	0.58989	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:0.0:1.0:0.0	16.387	0.83343	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2079.33	44	chr1	1626889	.	G	A	2079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=902;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.721;SOR=0.834	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr1	1640354	1640354	C	T	exonic	CDK11B	.	nonsynonymous SNV	CDK11B:NM_033487:exon9:c.G406A:p.D136N,CDK11B:NM_033490:exon10:c.G523A:p.D175N,CDK11B:NM_001291345:exon11:c.G1144A:p.D382N,CDK11B:NM_001787:exon11:c.G1213A:p.D405N,CDK11B:NM_033486:exon11:c.G1174A:p.D392N,CDK11B:NM_033489:exon12:c.G1072A:p.D358N	.	0	1506	16	0	0	16	0.00528402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0187	0.0014	0.0035	0.0058	0.0010	0.0024	0.0045	6.5e-06	1	154602	rs780499738	0.0002	0.0030	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0.0010	0.0004	3.905e-05	0.0002	0.0002	0.0004	4.338e-05	0.0002	0.0012	0.0007	0.0080	0.0006	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0002	0	0.0008	9.764e-05	0	0.0001	0.0010	0.0019	.	.	.	0.319	0.27503	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	0.891697	0.35967	D	.	.	.	.	.	.	.	.	.	0.159	0.24385	.	.	.	.	.	.	.	0.0073722303	0.00168	T	.	.	.	.	.	.	.	0.501370866149	0.49774	0.18148911043055882	0.18067	1.85689283172	0.92355	0.58371847868	0.50609	T	0.091634	0.38837	T	-0.161678	0.26503	T	-0.470015	0.25516	T	.	.	.	0.813219	0.76563	T	0.08692045	0.20221	0.15030116	0.35453	0.08692045	0.20221	0.15030116	0.35452	-11.192	0.82869	D	.	.	0.087	0.11076	B	.;.;.;.;.;.	.;.;.;.;.;.	3.729412	0.53338	23.4	0.9014835973866383	0.19427	0.61146	0.31400	D	AEFGI	0.142068	0.26441	N	.	.	.	.	.	.	0.235945177207679	0.18518	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	4.91	0.63897	4.329000	0.59046	7.400000	0.58569	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	17.502	0.87630	809	0.43032	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021910	0.079268	0.012262	0.017391	0.000000	0.026786	0.013605	0.007937	0.05263	172.22	33	chr1	1640354	.	C	T	172.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.45;DP=984;ExcessHet=0.119;FS=44.051;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=45.7;MQRankSum=-4.368;QD=0.5;ReadPosRankSum=-4.242;SOR=3.655	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	17	0	2	0
chr1	1665840	1665840	C	T	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon9:c.G1160A:p.R387Q,SLC35E2B:NM_001290264:exon10:c.G1160A:p.R387Q	.	.	.	.	.	.	.	.	.	.	.	4078358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0024665415281	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263696580	1.787e-05	1.71e-05	2.257e-05	1.305e-05	0.0002	1.227e-05	1.037e-05	2.227e-05	1.217e-05	0	8.403e-05	0	2.798e-05	0	0.0002	1.298e-05	3.449e-05	5.049e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	5.287e-05	2.835e-05	4.825e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.681	0.06090	T	0.008	0.14655	B	0.001	0.04355	B	0.122494	0.02738	N	2.374930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	-1.0417	0.16800	T	0.041	0.17488	T	9	0.050150484	0.04707	T	0.002467	0.04896	T	.	.	0.31	0.28289	0.043077524339	0.03247	0.14224407214116147	0.14147	.	.	0.198826655746	0.00423	T	0.006279	0.05717	T	-0.463517	0.00934	T	-0.707285	0.05437	T	0.0302486530772903	0.02029	T	0.489851	0.15048	T	0.017164357	0.00251	0.022296026	0.00257	0.017164357	0.00251	0.022296026	0.00257	-4.057	0.24654	T	.	.	0.060	0.01109	B	.;.	.;.	-0.765771	0.01177	0.057	0.76734204242535875	0.11587	0.06848	0.12873	N	AEFDBHCIJ	0.044755	0.07239	N	-1.91298274806752	0.00323	0.01386712	-1.99315079835645	0.00317	0.01397775	0.999999786530136	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.636168	0.56350	0	.	.	5.3	-10.6	0.00212	-0.488000	0.06578	-5.620000	0.01653	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1389:0.1799:0.6812	12.477	0.55158	735	0.53711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1531.33	36	chr1	1665840	.	C	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=716;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=0.31;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	18	0	1	0
chr1	1676434	1676434	G	A	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon2:c.C266T:p.T89M,SLC35E2B:NM_001290264:exon3:c.C266T:p.T89M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.349005151522	.	.	0	0	.	0	.	0	0	0	3.84e-05	1	26028	rs767736645	0.0020	0.0037	0.0021	0.0019	0.0029	0.0019	0.0019	0.0025	0.0024	0.0029	0.0007	5.891e-05	0	0.0008	0.0012	0.0026	0.0014	0.0003	0.0005	0.0010	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0002	0	0	0.0008	0	0.0007	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.74	0.80084	M	.	.	.	.	.	.	0.732	0.73285	0.876	0.95355	D	0.874	0.95827	D	10	0.7293253	0.74190	D	0.349005	0.92218	D	.	.	.	.	0.184605227958	0.18053	0.5049405927212977	0.50416	.	.	0.830471158028	0.86634	D	0.217417	0.57985	T	0.44413	0.92212	D	0.400186	0.92115	D	0.490796774625778	0.32293	T	0.975702	0.91457	D	0.6483128	0.75274	0.45539773	0.68339	0.6483128	0.75275	0.45539773	0.68340	-9.359	0.69978	D	.	.	0.794	0.76993	P	.;.;.	.;.;.	5.468072	0.91244	32	0.99913324602937426	0.98238	0.98229	0.80739	D	AEFDGI	0.840004	0.75734	D	0.763518969063871	0.83782	8.108518	0.714918548296532	0.83512	8.040913	0.999999959829798	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.75	4.75	0.59954	9.499000	0.96960	11.376000	0.92617	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	15.272	0.73411	707	0.57054	Sugar phosphate transporter domain;Sugar phosphate transporter domain;Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010227	0.040000	0.007353	0.009091	0.000000	0.000000	0.008065	0.000000	0.02778	41.81	8	chr1	1676434	.	G	A	41.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=240;ExcessHet=0;FS=0;InbreedingCoeff=0.4175;MLEAC=1;MLEAF=0.028;MQ=27;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:18,0:18:37:0,37,642	17	0	1	1
chr1	1712294	1712294	G	A	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon6:c.C565T:p.R189W,CDK11A:NM_001313982:exon6:c.C592T:p.R198W,CDK11A:NM_024011:exon6:c.C595T:p.R199W,CDK11A:NM_033529:exon6:c.C565T:p.R189W	.	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	.	0.0259	0.1341	0.125	0	.	0	0	0	3.84e-05	1	26028	rs55710038	0.0008	0.0009	0.0009	0.0008	0.0140	0.0008	0.0008	0.0130	0.0126	0.0140	0.0021	0.0027	0	0	0.0023	0.0004	0.0015	1.171e-05	0.0044	0.0044	0.0044	0.0043	0.0128	0.0041	0.0040	0.0119	0.0116	0.0128	0	0.0050	0.0012	0.0002	0	0	0.0006	0.0044	0	0.001	0.91255	D	0.018	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.005258	0.32962	N	0.232964	0.982152	0.81001	D	1.845	0.48678	L	1.9	0.23486	T	-2.0	0.51811	N	0.317	0.42541	-1.0940	0.04899	T	0.088	0.34050	T	10	0.005706489	0.00127	T	.	.	.	0.239	0.54358	.	.	0.257786959452	0.25393	0.05862372061237146	0.05803	0.775395009025	0.64999	0.952469289303	0.99801	D	0.034501	0.23346	T	-0.0748707	0.40546	T	-0.345323	0.39740	T	0.0475738339232147	0.05067	T	0.972903	0.92442	D	0.12259372	0.28804	0.12510093	0.30147	0.12259372	0.28804	0.12510093	0.30146	-8.581	0.66933	D	.	.	0.408	0.76371	A	.;.;.;.;.;.	.;.;.;.;.;.	4.301224	0.65672	24.9	0.99862444475731671	0.94093	0.64918	0.32564	D	AEFGI	0.542516	0.55822	D	0.160820954534283	0.49325	3.134214	0.0536905600315781	0.42252	2.552293	3.5655154143565E-4	0.06668	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.16	1.18	0.20058	2.136000	0.41744	0.846000	0.22090	0.224000	0.18100	1.000000	0.71638	0.014000	0.20376	0.718000	0.34707	0.0:0.0:0.3896:0.6104	7.636	0.27433	645	0.63593	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019512	0.035714	0.042105	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	572.33	42	chr1	1712294	.	G	A	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=714;ExcessHet=0;FS=3.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.73;MQRankSum=-3.546;QD=6.9;ReadPosRankSum=-0.933;SOR=1.157	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	18	0	1	0
chr1	1916513	1916513	G	A	exonic	CALML6	.	nonsynonymous SNV	CALML6:NM_001330313:exon2:c.G100A:p.G34R,CALML6:NM_138705:exon3:c.G151A:p.G51R	.	417	1093	11	1	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	.	7.7e-05	0.000998403	0.0030	0	0.0019	0	0	0.0011	0.0043	0.0116	0.0012872	199	154602	rs140177117	0.0009	0.0009	0.0006	0.0012	0.0087	0.0009	0.0008	0.0082	0.0080	3.009e-05	0.0003	0.0063	2.546e-05	0	0.0040	0.0002	0.0015	0.0087	0.0006	0.0006	0.0004	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0003	0	0.0005	0.0069	0	0	0	0.0003	0	0.0048	0.02	0.54683	D	0.013	0.63109	D	0.995	0.67487	D	0.64	0.52082	P	.	.	.	.	0.999912	0.19599	N	3.8	0.95404	H	-2.11	0.86216	D	-5.9	0.88839	D	0.504	0.56748	-0.0940	0.80236	T	0.688	0.89231	D	9	0.0066946745	0.00152	T	.	.	.	0.293	0.61272	0.578	0.70347	0.854125965873	0.85272	.	.	0.326689800215	0.34810	0.517190814018	0.41231	T	0.297401	0.67001	T	-0.301817	0.08490	T	-0.200201	0.54628	T	0.150516118185588	0.17144	T	0.819918	0.47811	T	0.3739854	0.58878	0.25833997	0.51565	0.3739854	0.58878	0.25833997	0.51564	-7.92	0.60524	D	.	.	0.353	0.56760	A	.;.	.;.	3.613304	0.51099	23.0	0.99681778951233191	0.79307	0.74802	0.36602	D	AEFBI	0.408951	0.48042	N	0.143892174596057	0.48522	3.063538	-0.0857529488882619	0.35979	2.088059	0.919996559626021	0.26618	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	2.23	0.175	0.14330	3.014000	0.49278	1.138000	0.24381	0.618000	0.50648	0.998000	0.41325	0.694000	0.26193	0.594000	0.31239	0.3417:0.0:0.6583:0.0	4.719	0.12288	917	0.20147	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006079	0.005102	0.002725	0.014706	0.000000	0.000000	0.009202	0.007634	0.02632	1753.33	143	chr1	1916513	.	G	A	1753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1672;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.175;SOR=0.754	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr1	1917152	1917152	G	A	exonic	CALML6	.	nonsynonymous SNV	CALML6:NM_001330313:exon5:c.G454A:p.V152M,CALML6:NM_138705:exon6:c.G505A:p.V169M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0643927682007	.	.	3.568e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765843274	2.197e-05	2.189e-05	8.193e-06	3.591e-05	0.0003	1.59e-05	1.361e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	4.985e-05	0.0003	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.057	0.46406	T	0.995	0.67487	D	0.912	0.64797	D	.	.	.	.	0.58409	0.31075	N	2.035	0.55589	M	-0.6	0.71662	T	-1.93	0.44852	N	0.2	0.25006	-0.3212	0.74388	T	0.410	0.75873	T	9	0.24790466	0.42079	T	0.064393	0.69263	D	0.255	0.56562	0.715	0.85051	0.726360100735	0.72393	.	.	0.298148885275	0.32199	0.415929853916	0.27275	T	0.131123	0.46042	T	-0.264369	0.12392	T	-0.353096	0.38849	T	0.225500500732781	0.21735	T	0.922708	0.72522	D	0.23479486	0.46306	0.25660384	0.51363	0.23479486	0.46306	0.25660384	0.51362	-8.196	0.62398	D	.	.	0.335	0.55562	B	.;.	.;.	2.827016	0.37262	20.5	0.99467342414412796	0.66154	0.63828	0.32211	D	AEFBI	0.171613	0.29859	N	-0.0705361769083696	0.38689	2.26986	-0.281468694373122	0.28708	1.602781	0.919707174061114	0.26610	0.554377	0.28877	0	0.59043	0.45803	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	3.43	0.439	0.15779	0.241000	0.17843	0.900000	0.22542	0.614000	0.49286	0.191000	0.24200	0.288000	0.24148	0.978000	0.57271	0.3807:0.0:0.6193:0.0	5.610	0.16680	923	0.18507	EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	656.33	43	chr1	1917152	.	G	A	656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=694;ExcessHet=0;FS=2.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.389;SOR=1.259	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr1	2194696	2194696	-	A	exonic	FAAP20	.	frameshift insertion	FAAP20:NM_001256945:exon1:c.53_54insT:p.A19Gfs*108,FAAP20:NM_001256946:exon1:c.53_54insT:p.A19Gfs*16,FAAP20:NM_001256947:exon1:c.53_54insT:p.A19Gfs*118,FAAP20:NM_001282673:exon1:c.53_54insT:p.A19Gfs*16,FAAP20:NM_182533:exon1:c.53_54insT:p.A19Gfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	34.45	16	chr1	2194696	.	C	CA	34.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=191;ExcessHet=0;FS=0;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=1.28;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0:12:36:.:.:0,36,298:.	18	0	1	0
chr1	2321570	2321570	A	G	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_024848:exon14:c.T1307C:p.V436A	.	.	.	.	.	.	.	.	.	.	.	3563921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.206919049345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.475e-06	1.368e-06	0	3.008e-06	1.891e-06	2.5e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.891e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.002142	0.37138	N	0.000000	0.983367	0.24890	N	2.08	0.57402	M	0.08	0.61559	T	-1.45	0.35597	N	0.206	0.22870	-0.4863	0.69140	T	0.301	0.67242	T	10	0.2650335	0.43996	T	0.206919	0.87065	D	0.175	0.44197	0.181	0.08877	0.640196300337	0.63723	0.3266985269647734	0.32582	0.191660985735	0.21496	0.797603547573	0.81598	T	0.07223	0.34403	T	-0.048836	0.44625	T	-0.307926	0.43882	T	0.743178237963226	0.42909	D	0.433057	0.11799	T	.	.	.	.	.	.	.	.	-6.949	0.53661	T	.	.	0.714	0.73525	P	.	.	2.891447	0.38292	20.7	0.99206848211221932	0.55472	0.03189	0.08176	N	AEFDBI	0.056710	0.10505	N	0.0457252797090504	0.43946	2.677748	-0.144420298386231	0.33623	1.925283	0.999941494383221	0.47345	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.39	3.39	0.37919	0.249000	0.17989	6.361000	0.55508	0.731000	0.85647	0.001000	0.13787	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	8.468	0.32130	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	797.33	38	chr1	2321570	.	A	G	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=750;ExcessHet=0;FS=2.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.736;SOR=0.408	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1142	18	0	1	0
chr1	2385028	2385028	G	A	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_001301060:exon6:c.C487T:p.R163W,MORN1:NM_024848:exon6:c.C487T:p.R163W	.	427	1080	14	1	0	16	0.00735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.044155518791	.	0.000798722	0.0025	0.0005	0.0008	0	0	0.0008	0.0068	0.0091	0.0008732	135	154602	rs146043178	0.0006	0.0006	0.0003	0.0008	0.0067	0.0005	0.0005	0.0062	0.0060	0.0001	0.0003	3.871e-05	0.0001	0	0.0017	0.0002	0.0007	0.0067	0.0004	0.0004	0.0002	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	0.0001	0	0	0	0	0	0	0.0002	0.0005	0.0073	0.033	0.44358	D	0.006	0.74150	D	0.993	0.65571	D	0.545	0.49043	P	0.023818	0.26374	N	0.256357	0.959175	0.26196	N	2.81	0.81869	M	0.47	0.56114	T	-3.27	0.65512	D	0.305	0.35620	-0.6535	0.62561	T	0.292	0.66384	T	10	0.010718226	0.00237	T	0.044156	0.61348	D	0.234	0.53644	.	.	0.679876379376	0.67715	0.47728721252311435	0.47648	0.0235759496406	0.02391	0.274909377098	0.06793	T	0.234057	0.60099	T	-0.395038	0.02495	T	-0.337471	0.40631	T	0.0635997862295113	0.07723	T	0.79582	0.43907	T	.	.	.	.	.	.	.	.	-5.901	0.48880	T	.	.	0.119	0.24294	B	.;.	.;.	4.769610	0.77191	26.7	0.99875486994690132	0.95244	0.74037	0.36214	D	AEFDBHCI	0.272570	0.38817	N	0.492807292290507	0.66668	4.980061	0.476858194998025	0.66459	4.954893	0.999999998611237	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.779548	0.98927	0	0.604944	0.38103	0	.	.	4.62	4.62	0.56946	2.666000	0.46464	5.544000	0.48876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.312	0.73750	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.011364	0.02632	1592.33	34	chr1	2385028	.	G	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.838;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1022	18	0	1	0
chr1	2491211	2491211	G	A	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon11:c.G1454A:p.R485H,PLCH2:NM_001303013:exon11:c.G1595A:p.R532H,PLCH2:NM_014638:exon11:c.G1535A:p.R512H	.	429	1084	9	0	0	9	0.00413413	.	.	.	696652	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0765147887737	.	0.000998403	0.0008	0	0.0008	0.0001	0	0.0003	0	0.0038	0.0006339	98	154602	rs532800575	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0003	0.0028	0.0027	2.988e-05	0.0006	0	2.52e-05	0	0.0014	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0005	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0004	0	0	0	0.0068	0.0002	0	0.0048	0.1	0.37326	T	0.014	0.62352	D	0.997	0.70673	D	0.817	0.58969	P	0.009870	0.30165	N	0.323928	0.595006	0.81001	D	2.48	0.72069	M	0.98	0.42122	T	-1.71	0.40660	N	0.351	0.39254	-0.8875	0.49147	T	0.171	0.51261	T	10	0.011690587	0.00254	T	0.076515	0.72549	D	0.118	0.32913	.	.	0.626257759281	0.62321	0.19855530556231638	0.19772	0.289332929805	0.31346	0.340050429106	0.16446	T	0.360885	0.72706	T	-0.488461	0.00663	T	-0.476838	0.24784	T	0.0518849761563192	0.05827	T	.	.	.	0.049219903	0.08706	0.054320086	0.09319	0.049219903	0.08706	0.054320086	0.09318	-10.287	0.75612	D	.	.	0.077	0.07412	B	.;.;.	.;.;.	3.739800	0.53540	23.4	0.99708353385747406	0.81143	0.89283	0.49654	D	AEFBI	0.203853	0.33033	N	0.0810135037519071	0.45577	2.811969	-0.000912351068945445	0.39675	2.356008	0.368685921716499	0.19848	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.03	3.17	0.35510	2.945000	0.48735	3.351000	0.37785	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.2478:0.0:0.7522:0.0	8.100	0.30009	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1484.33	41	chr1	2491211	.	G	A	1484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=839;ExcessHet=0;FS=4.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.241;SOR=0.363	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr1	2502167	2502167	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon21:c.C2636T:p.S879L,PLCH2:NM_001303013:exon21:c.C2777T:p.S926L,PLCH2:NM_014638:exon21:c.C2717T:p.S906L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.321410637811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162096233	7.37e-06	9.577e-06	5.803e-06	8.987e-06	2.879e-05	3.73e-06	2.72e-06	3.23e-06	2.34e-06	0	0	0	2.879e-05	0	0	7.516e-06	1.776e-05	0	3.284e-05	3.939e-05	3.853e-05	2.689e-05	5.88e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.004	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.889623	0.08696	N	0.940575	0.999975	0.54805	D	2.865	0.83145	M	1.73	0.27822	T	-4.97	0.82221	D	0.515	0.54584	-0.7663	0.57060	T	0.228	0.59309	T	10	0.36444524	0.52989	T	0.321411	0.91485	D	0.246	0.55340	.	.	0.515490261806	0.51192	0.37111745307031135	0.37025	0.61309136302	0.55890	0.835224807262	0.87364	D	0.64412	0.89121	D	-0.196986	0.21241	T	-0.284064	0.46386	T	0.803153906997213	0.46569	D	.	.	.	0.34116617	0.56372	0.55711645	0.74382	0.34116617	0.56372	0.55711645	0.74383	-7.888	0.60305	D	.	.	0.174	0.45665	B	.;.;.	.;.;.	4.189152	0.63122	24.5	0.99891693782769009	0.96589	0.97014	0.72193	D	AEFDBCI	0.895863	0.83633	D	0.379148490087639	0.60294	4.21673	0.369361342993819	0.59682	4.148169	0.999999998576607	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	3.75	3.75	0.42236	7.361000	0.78756	7.461000	0.59055	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	0.0:1.0:0.0:0.0	14.695	0.68727	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr1	2502167	.	C	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=691;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.472;SOR=0.317	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1290	18	0	1	0
chr1	2504359	2504359	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_014638:exon22:c.C3397T:p.R1133W	.	416	1103	3	0	0	3	0.00135808	.	.	.	2346060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0465847933025	0.0002	.	0.0004	0	0.0004	0	0	0.0006	0.0013	0.0003	0.0003169	49	154602	rs199730125	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	8.965e-05	0.0007	0.0003	2.519e-05	0	0.0033	0.0003	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	9.633e-05	0	0.0008	0	0	0	0.0034	0.0003	0.0033	0	0.0	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.544	0.49014	P	0.000173	0.00496	N	8.026950	1	0.81001	D	2.175	0.60977	M	1.79	0.25509	T	-2.64	0.56630	D	0.267	0.30233	-1.0226	0.22866	T	0.098	0.36625	T	10	0.14127913	0.26845	T	0.046585	0.62527	D	0.198	0.48105	.	.	0.601225841429	0.59804	0.3636145665926327	0.36275	.	.	0.463441550732	0.33782	T	0.250877	0.62104	T	-0.363237	0.03951	T	-0.390792	0.34458	T	0.0861418855504013	0.10753	T	.	.	.	0.27141604	0.50212	0.22936419	0.48005	0.27141604	0.50212	0.22936419	0.48004	-6.295	0.48682	T	.	.	0.152	0.33732	B	.;.	.;.	3.599313	0.50833	23.0	0.99797049054905096	0.88194	0.72744	0.35596	D	AEFDBCI	0.761411	0.69914	D	-0.180766702297293	0.33935	1.931083	-0.219788731248691	0.30827	1.739096	0.998851889318952	0.37823	0.580535	0.33130	0	0.550933	0.16991	0	0.514364	0.09456	0	0.604944	0.38103	0	.	.	4.62	1.26	0.20534	2.827000	0.47813	1.792000	0.28808	-0.189000	0.09497	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.5625:0.3176:0.1199:0.0	7.432	0.26303	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004044	0.005208	0.005435	0.002959	0.000000	0.008772	0.003067	0.000000	0.02632	1277.33	33	chr1	2504359	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=758;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.093;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1145	18	0	1	0
chr1	2514009	2514009	T	A	exonic	PANK4	.	nonsynonymous SNV	PANK4:NM_018216:exon12:c.A1568T:p.Y523F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0436401638855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.699	0.70351	-1.0098	0.26981	T	0.025	0.10821	T	10	0.45999593	0.59225	T	0.04364	0.61084	D	0.311	0.63269	.	.	0.377143385212	0.37329	.	.	0.873868921749	0.69494	0.661674499512	0.61649	T	.	.	.	-0.086432	0.38663	T	-0.36193	0.37828	T	0.940825402736664	0.61351	D	0.971903	0.89805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.968914	0.58269	24.0	0.97950396746026569	0.37100	0.92367	0.55547	D	AEFBCI	0.668689	0.63638	D	0.406425593717526	0.61776	4.383257	0.385241269064624	0.60654	4.25543	0.999999997306136	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	5.590000	0.67223	7.666000	0.64515	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	13.724	0.62229	834	0.38640	.;Domain of unknown function DUF89	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	801.33	40	chr1	2514009	.	T	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.017;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.73;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	18	0	1	0
chr1	2586905	2586905	C	T	exonic	PRXL2B	.	nonsynonymous SNV	PRXL2B:NM_001195736:exon1:c.C20T:p.A7V,PRXL2B:NM_001195737:exon1:c.C20T:p.A7V,PRXL2B:NM_001195738:exon1:c.C20T:p.A7V,PRXL2B:NM_001195740:exon1:c.C20T:p.A7V,PRXL2B:NM_001195741:exon1:c.C20T:p.A7V,PRXL2B:NM_152371:exon1:c.C20T:p.A7V	.	395	1124	3	0	0	3	0.00133274	.	.	.	3379537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.116681196494	7.9e-05	.	0.0004	0	0	0	0	0.0007	0	0	5.82e-05	9	154602	rs375491063	6.641e-05	7.524e-05	5.945e-05	7.403e-05	0.0021	5.393e-05	4.983e-05	0.0010	0.0007	0	0.0001	0	0	0	0.0021	6.327e-05	0.0001	6.281e-05	5.257e-05	5.253e-05	6.422e-05	4.037e-05	0.0001	2.557e-05	1.83e-05	4.766e-05	3.339e-05	0	0	6.543e-05	0	0	0	0	0.0001	0	0	0.5	0.07746	T	0.02	0.58613	D	0.009	0.17989	B	0.004	0.16460	B	0.019089	0.27335	N	0.362304	1	0.08975	N	.	.	.	0.91	0.45248	T	-0.91	0.25118	N	0.189	0.36779	-1.0154	0.25207	T	0.092	0.35146	T	10	0.057178944	0.06526	T	0.116681	0.79625	D	0.038	0.09825	.	.	0.344251166708	0.34027	0.17397509695703378	0.17317	0.487438807209	0.47571	0.879805624485	0.93934	D	0.027706	0.24342	T	-0.185065	0.22986	T	-0.503609	0.21973	T	0.0495828967490104	0.05426	T	0.706729	0.31713	T	0.07279216	0.16219	0.16525404	0.38239	0.07279216	0.16218	0.16525404	0.38238	-7.252	0.59906	T	.	.	0.213	0.46666	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.763237	0.22429	15.62	0.98947661971096068	0.49074	0.09036	0.14870	N	ALL	0.067998	0.13394	N	-0.795980724909739	0.13414	0.6606551	-0.868700149479511	0.12839	0.6627529	0.999999999883444	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.92	-0.636	0.10930	-0.245000	0.08908	1.602000	0.27589	-0.543000	0.04927	0.000000	0.06391	0.688000	0.26159	0.472000	0.28386	0.0:0.3478:0.5458:0.1064	7.814	0.28412	834	0.38640	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	925.33	28	chr1	2586905	.	C	T	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.913;SOR=0.671	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1329	18	0	1	0
chr1	2591973	2591973	C	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.G2122A:p.D708N	.	403	1091	28	0	0	28	0.0126697	.	.	.	746392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0004	0.00339457	0.0027	0.0002	0.0008	0	0	0.0014	0.0056	0.0130	0.0023544	364	154602	rs144423087	0.0015	0.0015	0.0011	0.0019	0.0121	0.0014	0.0014	0.0114	0.0111	0.0001	0.0011	0.0014	0	3.783e-05	0.0121	0.0008	0.0020	0.0120	0.0015	0.0015	0.0012	0.0017	0.0141	0.0013	0.0013	0.0114	0.0104	0.0002	0	0.0036	0.0017	0	0	0.0102	0.0011	0.0024	0.0141	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.007	0.12992	B	0.150564	0.17982	N	0.591254	0.999967	0.18878	N	0.485	0.13215	N	-1.63	0.82440	D	0.61	0.03521	N	0.193	0.24758	-0.8334	0.53081	T	0.170	0.51052	T	10	0.019003183	0.00419	T	.	.	.	0.154	0.40340	.	.	0.128392430309	0.12331	0.21629869131380708	0.21545	0.166381697515	0.18776	0.254234850407	0.04227	T	0.240014	0.60826	T	-0.56254	0.00245	T	-0.570438	0.15409	T	0.00526202441618175	0.00057	T	0.859314	0.55085	D	0.031152738	0.02903	0.035731416	0.02881	0.031152738	0.02903	0.035731416	0.02881	-0.944	0.01042	T	.	.	0.066	0.03515	B	.;.	.;.	0.235682	0.06164	2.612	0.59895238230017034	0.06333	0.03725	0.09017	N	AEFDBI	0.135791	0.25624	N	-1.65545729701567	0.01012	0.04388216	-1.6766926444912	0.01244	0.05605033	0.998401349196352	0.36906	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-4.25	0.03508	0.291000	0.18748	-0.649000	0.08038	-0.885000	0.02425	0.001000	0.13787	0.000000	0.08366	0.149000	0.20271	0.0:0.2899:0.3836:0.3265	5.803	0.17690	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004541	0.005051	0.001359	0.008824	0.000000	0.000000	0.003067	0.011364	0.02632	1271.33	39	chr1	2591973	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=755;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.13;SOR=0.858	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1219	18	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006559	0.005051	0.000000	0.008824	0.000000	0.017241	0.006135	0.018939	0.02632	938.33	39	chr1	2591992	.	G	T	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=730;ExcessHet=0;FS=3.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.696;SOR=1.215	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1219	18	0	1	0
chr1	2641471	2641471	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C3137T:p.T1046M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0389425734676	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363859935	1.59e-05	1.642e-05	1.427e-05	1.758e-05	2.525e-05	1.041e-05	8.89e-06	1.211e-05	9.84e-06	0	0	0	0	0	0	1.854e-05	0	2.525e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000501	0.43931	U	0.146061	1	0.08975	N	2.545	0.74286	M	.	.	.	.	.	.	.	.	-1.0301	0.20422	T	0.087	0.33634	T	8	0.10485488	0.19351	T	0.038943	0.58523	D	0.050	0.13987	0.397	0.42426	0.200317383148	0.19677	0.16526052469899755	0.16446	.	.	0.50736951828	0.39855	T	0.01479	0.12528	T	-0.304885	0.08206	T	-0.558272	0.16540	T	0.19173926115036	0.19947	T	0.59614	0.22137	T	0.023785116	0.01148	0.06066849	0.11591	0.023785116	0.01148	0.06066849	0.11591	-4.786	0.34428	T	.	.	0.072	0.05188	B	.;.	.;.	1.308910	0.17120	12.97	0.99433135622983926	0.64374	0.04533	0.10166	N	AEFDBHCI	0.064125	0.12433	N	-0.815137269264646	0.12923	0.6331644	-0.980516784360225	0.10224	0.5135269	0.999996192890876	0.74766	0.62174	0.39705	0	0.550933	0.16991	0	0.491614	0.08109	1	0.562822	0.20929	0	.	.	3.54	0.125	0.14020	-0.265000	0.08671	0.415000	0.18155	-0.125000	0.13442	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1191:0.0:0.4854:0.3955	4.108	0.09516	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	800.33	34	chr1	2641471	.	G	A	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=707;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.219;SOR=0.834	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1051	18	0	1	0
chr1	2789597	2789597	G	C	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon2:c.C1534G:p.R512G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0013	0	0	0	.	0.0017	0	0.0013	0.0008409	130	154602	rs557596918	0.0058	0.0053	0.0060	0.0055	0.0065	0.0057	0.0056	0.0064	0.0063	0.0006	0.0011	0.0004	3.611e-05	0.0104	0	0.0065	0.0042	0.0013	0.0038	0.0038	0.0034	0.0043	0.0052	0.0036	0.0035	0.0047	0.0046	0.0008	0	0.0013	0.0003	0	0.0159	0	0.0052	0.0024	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007187426	0.00163	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525647	0.17278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31808	B	.	.	3.248240	0.44367	21.9	0.72947357218346587	0.10152	0.95448	0.64761	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.768448172531193	0.23630	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.079188	0.02158	0	0.708178	0.43083	3.96	3.0	0.33773	2.890000	0.48308	4.687000	0.44347	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.079000	0.17189	0.0:0.1678:0.8322:0.0	12.688	0.56325	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	481.33	37	chr1	2789597	.	G	C	481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=659;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.34;SOR=1.17	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr1	3404788	3404788	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon7:c.G934A:p.D312N,PRDM16:NM_199454:exon7:c.G934A:p.D312N	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	424	1096	2	0	0	2	0.000911577	.	.	.	685711	not_provided|PRDM16-related_disorder|not_specified|Left_ventricular_noncompaction_8	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0461591670848	0.0009	0.000199681	0.0002	0.0023	0.0003	0.0001	0	1.521e-05	0	6.058e-05	0.0002135	33	154602	rs191798831	8.486e-05	8.482e-05	7.353e-05	9.629e-05	0.0018	7.211e-05	6.799e-05	0.0015	0.0013	0.0018	0.0004	0	7.558e-05	0	0	2.158e-05	0.0002	3.478e-05	0.0006	0.0006	0.0006	0.0005	0.0018	0.0005	0.0004	0.0015	0.0014	0.0018	0	0.0005	0	0	0	0	1.47e-05	0	0	0.186	0.24661	T	0.105	0.39492	T	0.948	0.90584	P	0.479	0.79672	P	0.663308	0.10408	U	0.763586	0.999963	0.54805	D	1.73	0.44655	L	3.2	0.07236	T	-3.55	0.69714	D	0.747	0.82057	-1.0495	0.14537	T	0.045	0.19356	T	10	0.03024602	0.01151	T	0.046159	0.62324	D	0.146	0.38789	.	.	0.54801067971	0.54456	0.40223957782635406	0.40139	0.56151172001	0.52655	0.787594377995	0.80076	T	0.073334	0.87376	T	-0.555234	0.00271	T	-0.57588	0.14914	T	0.0805216960545	0.10054	T	0.946705	0.79569	D	0.27326778	0.50395	0.26175004	0.51958	0.27326778	0.50395	0.26175004	0.51957	-10.581	0.77528	D	.	.	0.716	0.74655	P	.;.;.;.;.	.;.;.;.;.	4.847445	0.79201	27.1	0.99865435762743371	0.94366	0.92701	0.56335	D	AEFDBCI	0.934781	0.92865	D	0.322491238230118	0.57304	3.897307	0.378080833086019	0.60214	4.206737	0.999999999273177	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.79	4.79	0.60909	7.846000	0.85175	11.683000	0.94248	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:1.0:0.0	16.599	0.84656	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	6500.81	33	chr1	3404788	.	G	A	6500.81	.	AC=2;AF=0.053;AN=38;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.81;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	18	1	0	0
chr1	3430888	3430888	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3301A:p.V1101M,PRDM16:NM_199454:exon15:c.G3301A:p.V1101M	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	400	1119	3	0	0	3	0.00133869	.	.	.	75287	Left_ventricular_noncompaction_8|Cardiomyopathy,_dilated,_1LL|not_specified|not_provided|PRDM16-related_disorder	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MONDO:MONDO:0800367,MedGen:C3809289|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	.	0.00299521	0.0036	0.0001	8.676e-05	0.0001	0	3.018e-05	0.0011	0.0256	0.0029042	449	154602	rs201654872	0.0016	0.0016	0.0009	0.0022	0.0242	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	0	0.0002	0	0.0007	3.237e-05	0.0023	0.0242	0.0008	0.0008	0.0004	0.0012	0.0224	0.0007	0.0006	0.0190	0.0177	0.0001	0	0.0002	0	0.0004	0	0	4.409e-05	0	0.0224	0.207	0.20456	T	0.175	0.29945	T	0.099	0.45487	B	0.009	0.29270	B	0.223784	0.16077	N	0.398827	0.99998	0.18612	N	0.69	0.16971	N	3.43	0.05574	T	-0.4	0.13805	N	0.184	0.21710	-0.9372	0.43057	T	0.009	0.03183	T	10	0.005124122	0.00111	T	.	.	.	0.033	0.08068	.	.	0.161926535498	0.15789	0.11273426010008292	0.11201	0.0712543647857	0.07981	0.242809474468	0.03049	T	0.010207	0.40378	T	-0.669832	0.00055	T	-0.71602	0.04990	T	0.00775660335536496	0.00091	T	0.475952	0.14261	T	0.025238048	0.01440	0.03151112	0.01751	0.020955957	0.00674	0.03672031	0.03175	-3.824	0.21164	T	.	.	0.080	0.12750	B	.;.;.;.;.	.;.;.;.;.	1.988009	0.25258	16.70	0.82353937852225323	0.14148	0.43729	0.27162	N	AEFBI	0.094798	0.19162	N	-0.703813054880976	0.15914	0.8062771	-0.645008051870013	0.18343	0.9794466	0.0214246759857741	0.13347	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.03	1.66	0.23081	2.224000	0.42587	1.809000	0.28946	-0.179000	0.10443	0.975000	0.34726	0.672000	0.26072	0.002000	0.04165	0.3912:0.3412:0.2675:0.0	5.696	0.17129	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1098.33	34	chr1	3430888	.	G	A	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=738;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=1.02;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1394	18	0	1	0
chr1	3430944	3430944	G	C	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3357C:p.E1119D,PRDM16:NM_199454:exon15:c.G3357C:p.E1119D	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	393	1120	9	0	0	9	0.00400178	.	.	.	557043	Left_ventricular_noncompaction_8|not_specified|not_provided	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00336082809073	.	.	1.85e-05	0	0	0	0	1.659e-05	0	6.626e-05	1.29e-05	2	154602	rs756442796	3.626e-05	3.626e-05	2.859e-05	4.401e-05	0.0012	2.828e-05	2.565e-05	0.0006	0.0004	0	2.237e-05	0	0	0	0.0012	3.598e-05	6.625e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.527	0.10245	T	0.02	0.18235	B	0.015	0.17295	B	0.986576	0.08059	N	0.990942	0.788987	0.34362	D	0.07	0.08264	N	3.3	0.06445	T	-0.82	0.22508	N	0.209	0.23253	-0.9562	0.39879	T	0.011	0.04181	T	10	0.09496546	0.16926	T	0.003361	0.07512	T	0.075	0.21907	0.074	0.00491	0.266724437049	0.26276	0.06764822377203893	0.06702	0.0646895154567	0.07223	0.344986796379	0.17181	T	0.003101	0.32088	T	-0.433991	0.01403	T	-0.753518	0.03350	T	0.0477503376568392	0.05099	T	0.741726	0.36078	T	0.04798517	0.08291	0.061627675	0.11930	0.04798517	0.08291	0.061627675	0.11930	-4.103	0.25335	T	.	.	0.087	0.16582	B	.;.;.;.;.	.;.;.;.;.	1.353639	0.17619	13.27	0.97730994109705538	0.35616	0.63941	0.32247	D	AEFBI	0.246205	0.36700	N	-0.667741646770977	0.16945	0.8677967	-0.607449673311407	0.19301	1.034951	0.0143071565302861	0.12579	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.14	0.422	0.15674	0.040000	0.13791	0.340000	0.17371	-0.108000	0.15293	0.941000	0.32681	0.982000	0.30508	0.006000	0.07323	0.1936:0.2011:0.2523:0.3531	0.514	0.00560	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.005435	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	2116.33	185	chr1	3430944	.	G	C	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.919;DP=812;ExcessHet=0;FS=4.214;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.074;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1394	18	0	1	0
chr1	3469481	3469481	A	G	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon6:c.A910G:p.S304G	.	434	1087	1	0	0	1	0.00045977	.	.	.	2764834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0101870471784	.	.	4.165e-05	0	0	0	0	7.616e-05	0	0	3.23e-05	5	154602	rs778961636	3.08e-05	3.078e-05	2.316e-05	3.853e-05	6.709e-05	2.348e-05	2.096e-05	2.116e-05	1.862e-05	0	6.709e-05	0.0001	0	0	0	2.968e-05	9.937e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.627	0.19710	T	0.408	0.14961	T	0.0	0.02946	B	0.004	0.10090	B	0.248056	0.15569	N	0.592259	0.990411	0.24342	N	-0.345	0.03330	N	1.56	0.29602	T	-0.83	0.27669	N	0.142	0.14622	-1.0619	0.11288	T	0.035	0.15117	T	10	0.042650312	0.03035	T	0.010187	0.26434	T	0.053	0.14996	0.471	0.54537	0.0666544352282	0.05500	0.30445655738515376	0.30358	0.212149430145	0.23708	0.316097617149	0.12830	T	0.032987	0.22724	T	-0.364126	0.03902	T	-0.574914	0.15002	T	0.00825879850311378	0.00099	T	0.618038	0.23687	T	0.07595058	0.17144	0.054071937	0.09229	0.07595058	0.17144	0.054071937	0.09229	-2.888	0.10943	T	.	.	0.045	0.00050	B	.;.;.;.	.;.;.;.	-0.330384	0.02488	0.290	0.69968169233267064	0.09143	0.12791	0.17482	N	AEFDBCI	0.074042	0.14829	N	-1.51858242339114	0.01727	0.07562263	-1.46252345470827	0.02659	0.1226745	0.968567132140281	0.29062	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.26	-1.69	0.07747	0.274000	0.18443	1.027000	0.23450	-0.717000	0.03845	0.353000	0.25784	0.998000	0.33993	0.127000	0.19450	0.4813:0.0:0.5187:0.0	11.142	0.47633	982	0.03397	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2972.33	176	chr1	3469481	.	A	G	2972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.163;DP=823;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.306;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1235:.	18	0	1	0
chr1	3477914	3477914	C	G	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon11:c.C1513G:p.R505G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.272506661583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.999	0.77913	D	0.983	0.75793	D	0.000006	0.62929	D	0.062610	0.999991	0.58761	D	3.35	0.91085	M	-0.04	0.63240	T	-5.71	0.89684	D	0.786	0.78262	-0.0090	0.82070	T	0.439	0.77771	T	10	0.76210886	0.76424	D	0.272507	0.89932	D	0.439	0.74306	0.555	0.67271	0.594818968187	0.59160	0.6784760907161937	0.67786	0.975079256264	0.73533	0.57875585556	0.49911	T	0.266602	0.63856	T	0.16751	0.70894	D	0.0028403	0.70520	D	0.996039271354675	0.88541	D	0.956404	0.89360	D	0.77112925	0.82116	0.6979472	0.82210	0.77112925	0.82118	0.6979472	0.82211	-10.383	0.80952	D	.	.	0.363	0.57380	A	.;.;.	.;.;.	4.652418	0.74177	26.1	0.99371758805650212	0.61455	0.80885	0.40411	D	AEFDBCI	0.645242	0.62121	D	0.137922929491642	0.48239	3.03886	0.00137814956054511	0.39780	2.363846	0.546940934656162	0.21301	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.38	1.93	0.24985	1.288000	0.32901	3.880000	0.40234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.4946:0.5054:0.0:0.0	15.305	0.73687	982	0.03397	Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2743.33	197	chr1	3477914	.	C	G	2743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=3384;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:158,0:158:99:.:.:0,120,1800:.	18	0	1	0
chr1	3524189	3524189	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon5:c.C539T:p.P180L	.	421	1084	16	1	0	18	0.00823422	.	.	.	2805579	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.319	.	0.0090	0.00339457	0.0091	0.0016	0.0032	0	0.0183	0.0118	0.0115	0.0080	0.008648	1337	154602	rs41307039	0.0095	0.0095	0.0093	0.0098	0.0132	0.0094	0.0093	0.0108	0.0099	0.0016	0.0038	0.0051	2.519e-05	0.0183	0.0132	0.0101	0.0090	0.0085	0.0083	0.0083	0.0080	0.0087	0.0128	0.0079	0.0078	0.0121	0.0118	0.0017	0	0.0046	0.0084	0	0.0174	0.0034	0.0128	0.0071	0.0056	1.0	0.00964	T	0.7	0.06090	T	0.0	0.14655	B	0.003	0.19653	B	0.176341	0.17227	N	0.574091	1	0.08975	N	1.445	0.36358	L	-4.35	0.97292	D	-3.33	0.66665	D	0.365	0.40665	-0.1257	0.79502	T	0.701	0.89709	D	10	0.01093924	0.00241	T	.	.	.	0.319	0.64112	.	.	0.718680186441	0.71620	0.11970700306402762	0.11897	0.108435841753	0.12232	0.31463265419	0.12608	T	0.098219	0.40183	T	-0.217027	0.18401	T	-0.0702409	0.65609	T	0.00687189192075251	0.00078	T	0.607039	0.22875	T	0.043427527	0.06765	0.073549464	0.15995	0.043427527	0.06765	0.073549464	0.15995	-2.124	0.09024	T	.	.	0.065	0.04517	B	.;.	.;.	0.743431	0.11128	7.773	0.41489668936329838	0.02997	0.05968	0.11927	N	AEFBCI	0.055650	0.10223	N	-1.36920547336596	0.02931	0.1301612	-1.34149227628052	0.03907	0.1832232	0.992068586426688	0.32706	0.67177	0.52595	0	0.547309	0.14657	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.0	1.88	0.24630	1.145000	0.31189	3.127000	0.36425	-0.873000	0.02525	0.637000	0.28059	1.000000	0.68203	0.405000	0.26894	0.1613:0.1296:0.7091:0.0	8.712	0.33552	976	0.04745	.;EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015136	0.030303	0.009511	0.029240	0.000000	0.025862	0.015244	0.007634	0.05263	2415.83	38	chr1	3524189	.	G	A	2415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.612;DP=804;ExcessHet=0.119;FS=4.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.02;SOR=0.457	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	17	0	2	0
chr1	3728188	3728188	C	G	exonic	TP73	.	nonsynonymous SNV	TP73:NM_001126240:exon7:c.C898G:p.H300D,TP73:NM_001126241:exon7:c.C898G:p.H300D,TP73:NM_001126242:exon7:c.C898G:p.H300D,TP73:NM_001204189:exon7:c.C898G:p.H300D,TP73:NM_001204190:exon7:c.C898G:p.H300D,TP73:NM_001204191:exon7:c.C898G:p.H300D,TP73:NM_001204192:exon7:c.C832G:p.H278D,TP73:NM_001204184:exon9:c.C1045G:p.H349D,TP73:NM_001204185:exon9:c.C1045G:p.H349D,TP73:NM_001204186:exon9:c.C1045G:p.H349D,TP73:NM_001204187:exon9:c.C1045G:p.H349D,TP73:NM_001204188:exon9:c.C1045G:p.H349D,TP73:NM_005427:exon9:c.C1045G:p.H349D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.313393187962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.10980	T	0.629	0.07791	T	0.923	0.51194	P	0.673	0.53214	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.045	0.56016	M	-3.03	0.92307	D	-1.14	0.29323	N	0.669	0.67736	0.267	0.87029	D	0.724	0.90557	D	10	0.6382464	0.68906	D	0.313393	0.91255	D	0.524	0.79825	0.414	0.45216	0.648601781325	0.64568	0.4348686531126821	0.43403	0.55462161771	0.52196	0.803658783436	0.82521	D	0.608042	0.87537	D	0.128046	0.67171	D	-0.0538475	0.66758	D	0.620310604572296	0.37219	D	0.817118	0.48487	T	0.22920337	0.45654	0.19374867	0.42960	0.22920337	0.45654	0.19374867	0.42959	-11.318	0.82194	D	.	.	0.296	0.59148	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.854709	0.55867	23.7	0.98055506979041918	0.37905	0.95085	0.63382	D	AEFDBHCI	0.614845	0.60201	D	-0.0193186112583279	0.40981	2.443257	-0.0268330909107324	0.38508	2.269676	0.996680819174906	0.34926	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.69	3.75	0.42236	4.251000	0.58568	4.728000	0.44539	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:0.8438:0.1562:0.0	13.686	0.61996	821	0.40814	p53, tetramerisation domain;.;.;.;.;.;.;.;p53, tetramerisation domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2705.33	203	chr1	3728188	.	C	G	2705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.132;DP=1040;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.206;SOR=0.914	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1412	18	0	1	0
chr1	3763722	3763724	ACA	-	exonic	CCDC27	.	nonframeshift deletion	CCDC27:NM_152492:exon8:c.1338_1340del:p.Q449del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0002	9.619e-05	0.0003	0.0002	0	0.0002	0	6.058e-05	0.0001358	21	154602	rs748242146	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0003	0	0	0.0001	0.0004	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	8.173e-05	6.728e-05	0.0002	8.375e-05	0.0001	0	0.0001	0	0.0006	0	0	5.883e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	942.29	40	chr1	3763721	.	TACA	T	942.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=740;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.666;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	18	0	1	0
chr1	3763781	3763781	C	T	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon8:c.C1397T:p.T466M	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0058	0.00339457	0.0068	0.0012	0.0056	0	0.0109	0.0099	0.0044	0.0007	0.0064165	992	154602	rs144028564	0.0067	0.0067	0.0067	0.0067	0.0074	0.0066	0.0065	0.0070	0.0069	0.0011	0.0074	0.0184	0.0001	0.0094	0.0019	0.0071	0.0065	0.0012	0.0069	0.0069	0.0068	0.0070	0.0110	0.0066	0.0064	0.0097	0.0092	0.0012	0.0022	0.0110	0.0204	0.0004	0.0086	0	0.0095	0.0090	0.0012	0.381	0.11156	T	0.136	0.34009	T	0.0	0.02946	B	0.001	0.04355	B	0.077984	0.02322	N	1.973700	1	0.08975	N	0.11	0.08516	N	2.25	0.17761	T	-0.48	0.15379	N	0.161	0.16864	-0.9941	0.31538	T	0.014	0.05608	T	10	0.0037753582	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.09067344847882812	0.09000	0.13105625566	0.14780	0.287918627262	0.08620	T	0.001754	0.01176	T	-0.765393	0.00014	T	-0.859887	0.00844	T	0.00164817917624442	0.00017	T	0.263374	0.04265	T	0.01385771	0.00072	0.031199833	0.01675	0.01385771	0.00072	0.031199833	0.01675	-3.209	0.12591	T	.	.	0.066	0.02313	B	.	.	-1.476959	0.00309	0.005	0.93255571769026302	0.22947	0.00243	0.01347	N	AEFDBI	0.023133	0.01247	N	-1.2574682187906	0.04202	0.1891989	-1.26791833404371	0.04871	0.2308145	0.254859351864128	0.18722	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.76	-3.17	0.04882	-3.765000	0.00418	-6.632000	0.01346	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1621:0.4807:0.0:0.3573	5.202	0.14591	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	1105.33	40	chr1	3763781	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.03;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	18	0	1	0
chr1	3823556	3823556	C	T	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon19:c.G2371A:p.E791K	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.1007812813	7.7e-05	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs138340436	7.525e-06	7.524e-06	5.445e-06	9.625e-06	1.159e-05	4.04e-06	2.95e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	0.14	0.60854	T	-3.7	0.70553	D	0.998	0.99987	-0.0403	0.81411	T	0.453	0.78656	T	10	0.83884835	0.83038	D	0.100781	0.77327	D	0.567	0.82346	.	.	0.845788616778	0.84430	0.854922840480771	0.85455	0.745128000262	0.63470	0.66572868824	0.62228	T	0.414802	0.76825	T	0.234189	0.77115	D	0.267748	0.86460	D	0.978504240512848	0.72359	D	0.975436	0.94055	D	0.884711	0.90058	0.7977365	0.88128	0.884711	0.90059	0.7977365	0.88128	-15.965	0.97708	D	.	.	0.972	0.89728	P	.;.	.;.	4.687430	0.75076	26.3	0.99916898380667007	0.98449	0.98915	0.88569	D	AEFDBI	0.751601	0.69236	D	0.77787003655725	0.84704	8.362673	0.699164676071089	0.82313	7.736725	0.999999999997857	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	7.097000	0.76621	7.373000	0.58408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:1.0:0.0:0.0	18.785	0.91914	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2403.33	33	chr1	3823556	.	C	T	2403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.724;DP=809;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.127;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	307.41	39	chr1	3836493	.	A	C	307.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.875;DP=849;ExcessHet=0.3672;FS=48.286;InbreedingCoeff=-0.2465;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=2.52;SOR=3.55	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,1008:.	7	0	3	9
chr1	3845293	3845293	T	C	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon5:c.A485G:p.N162S	Joubert syndrome 25, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	627825	Joubert_syndrome_25	MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00885246868319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867268929	1.725e-05	1.779e-05	1.924e-05	1.525e-05	0.0037	1.184e-05	1.001e-05	0.0024	0.0021	3.021e-05	0	0	0	0	0.0037	1.815e-06	1.667e-05	0	1.313e-05	1.312e-05	2.57e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.237	0.24857	T	0.378	0.22359	T	0.493	0.37004	P	0.116	0.31939	B	0.000001	0.84330	D	0.093152	0.993826	0.42066	D	0.975	0.24501	L	1.5	0.31205	T	-0.32	0.25332	N	0.204	0.22614	-1.0261	0.21723	T	0.052	0.21921	T	10	0.05524981	0.06009	T	0.008852	0.23342	T	0.096	0.27654	0.167	0.07186	0.26547132957	0.26150	0.22017581589867583	0.21933	0.140129580203	0.15799	0.39559340477	0.24454	T	0.008603	0.14269	T	-0.304688	0.08224	T	-0.67544	0.07264	T	0.414816081523895	0.29498	T	0.70513	0.33277	T	0.051557746	0.09486	0.052333444	0.08600	0.051557746	0.09486	0.052333444	0.08599	-3.158	0.11975	T	.	.	0.063	0.01491	B	.;.;.	.;.;.	1.621456	0.20713	14.87	0.91351359944371413	0.20614	0.90933	0.52537	D	AEFDBI	0.160853	0.28684	N	-0.142092978284263	0.35571	2.044921	-0.0122816895493914	0.39159	2.317632	0.143979250335894	0.17325	0.732398	0.92422	0	0.653731	0.59785	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	1.284000	0.32855	0.037000	0.13814	0.665000	0.62972	0.915000	0.31815	0.006000	0.19429	0.834000	0.39329	0.0:0.0805:0.0:0.9195	10.227	0.42408	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002520	0.005102	0.001359	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1538.33	33	chr1	3845293	.	T	C	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.024;DP=789;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.517;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1292	18	0	1	0
chr1	3869666	3869666	G	A	exonic	DFFB	.	nonsynonymous SNV	DFFB:NM_001282669:exon5:c.G644A:p.G215D,DFFB:NM_001320132:exon5:c.G425A:p.G142D,DFFB:NM_001320136:exon5:c.G380A:p.G127D,DFFB:NM_004402:exon5:c.G572A:p.G191D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0172888225235	.	.	8.35e-06	0	0	0	0	0	0	6.084e-05	6.5e-06	1	154602	rs761854521	6.844e-07	1.368e-06	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.654	0.06643	T	0.001	0.07471	B	0.003	0.08700	B	0.027037	0.25823	N	0.445190	1	0.08975	N	0.08	0.08321	N	1.72	0.26588	T	1.43	0.00805	N	0.128	0.12198	-0.9750	0.36125	T	0.020	0.08360	T	10	0.051713765	0.05094	T	0.017289	0.38928	T	0.033	0.08068	0.59	0.71874	0.0806252709748	0.07271	0.3403597511992712	0.33948	0.30244622589	0.32575	0.38594892621	0.23097	T	0.00616	0.18734	T	-0.429687	0.01489	T	-0.754362	0.03318	T	0.0157230567770013	0.00364	T	0.383062	0.09347	T	0.035353646	0.04144	0.059215058	0.11075	0.035353646	0.04144	0.059215058	0.11075	-3.627	0.18248	T	0.08089163037305883	0.04125	0.098	0.16407	B	.;.	.;.	-0.742294	0.01226	0.062	0.21717734478205047	0.00840	0.01815	0.05650	N	AEFDBCI	0.032583	0.03708	N	-1.51364196433966	0.01759	0.07705797	-1.49469728920924	0.02387	0.1097128	0.998539068954084	0.37148	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	-1.64	0.07874	0.267000	0.18318	-0.150000	0.11428	-0.145000	0.12313	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.5964:0.0:0.4036:0.0	10.859	0.46022	.	.	DNA fragmentation factor 40, C-terminal;DNA fragmentation factor 40, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	67	chr1	3869666	.	G	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.496;DP=753;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.153;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	18	0	1	0
chr1	6211085	6211085	G	A	exonic	RNF207	.	nonsynonymous SNV	RNF207:NM_207396:exon12:c.G1076A:p.R359H	.	0	224	2	0	0	2	0.00444444	.	.	.	3313215	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0279222691451	.	0.000199681	1.223e-05	0	0	0	0	0	0	8.269e-05	1.29e-05	2	154602	rs569862855	1.998e-05	2.394e-05	2.194e-05	1.8e-05	0.0014	1.402e-05	1.212e-05	0.0007	0.0005	5.987e-05	4.507e-05	0	5.051e-05	0	0.0014	8.104e-06	4.989e-05	3.508e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.088	0.32296	T	0.183	0.29153	T	0.05	0.22331	B	0.012	0.16012	B	0.020533	0.27020	N	0.224065	0.614297	0.81001	D	1.79	0.46772	L	2.14	0.19450	T	-1.17	0.29933	N	0.225	0.25253	-1.0590	0.12007	T	0.031	0.13374	T	10	0.053040534	0.05431	T	0.027922	0.50668	D	0.021	0.04004	0.333	0.32005	0.0716867268079	0.06686	0.5296589661153507	0.52889	0.215990113852	0.24126	0.620422840118	0.55788	T	0.002043	0.01452	T	-0.240064	0.15341	T	-0.582612	0.14313	T	0.096794384146963	0.12000	T	0.693531	0.30321	T	0.042631328	0.06500	0.030347006	0.01479	0.042631328	0.06500	0.030347006	0.01479	-3.759	0.20194	T	.	.	0.111	0.21578	B	.	.	1.987044	0.25245	16.69	0.85315456496870223	0.15817	0.34493	0.25080	N	AEFDBCI	0.184909	0.31224	N	-0.952316350819093	0.09641	0.4571592	-0.987399312723785	0.10067	0.5047579	0.993232179804363	0.33136	0.554377	0.28877	0	0.552637	0.17590	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.15	1.2	0.20181	2.310000	0.43368	0.149000	0.15269	0.672000	0.70159	0.523000	0.27135	0.000000	0.08366	0.003000	0.05239	0.2414:0.0:0.7586:0.0	8.584	0.32810	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001010	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1251.33	41	chr1	6211085	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=761;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.047;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	18	0	1	0
chr1	6219309	6219309	G	-	exonic	RNF207	.	frameshift deletion	RNF207:NM_207396:exon18:c.1807delG:p.G603Afs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.328e-05	0	8.664e-05	0	0	1.505e-05	0.0022	0	.	.	.	rs766235482	3.559e-05	3.762e-05	3.95e-05	3.164e-05	0.0001	2.764e-05	2.503e-05	5.805e-05	3.952e-05	0	0.0001	0	0	0	0	3.779e-05	4.971e-05	1.16e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2938.29	128	chr1	6219308	.	CG	C	2938.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.647;DP=742;ExcessHet=0;FS=1.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.96;ReadPosRankSum=1.86;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1167:.	18	0	1	0
chr1	6219313	6219313	T	-	exonic	RNF207	.	frameshift deletion	RNF207:NM_207396:exon18:c.1811delT:p.L604Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.331e-05	0	8.67e-05	0	0	1.508e-05	0.0022	0	3.84e-05	1	26028	rs776629041	3.49e-05	3.625e-05	3.95e-05	3.026e-05	0.0001	2.698e-05	2.439e-05	5.806e-05	3.953e-05	0	0.0001	0	0	0	0	3.689e-05	4.97e-05	1.16e-05	1.315e-05	1.313e-05	1.286e-05	1.346e-05	6.55e-05	2.19e-06	8.2e-07	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2935.29	129	chr1	6219312	.	CT	C	2935.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=794;ExcessHet=0;FS=2.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=1.81;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	18	0	1	0
chr1	6245377	6245377	C	A	exonic	HES3	.	nonsynonymous SNV	HES3:NM_001024598:exon4:c.C431A:p.P144H	.	392	1129	0	1	0	2	0.000884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0388820528019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.579e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.095	0.31235	T	0.004	0.74150	D	0.992	0.64738	D	0.615	0.51231	P	0.000007	0.00162	N	987.701000	1	0.08975	N	0.975	0.24501	L	1.44	0.32722	T	-1.99	0.45949	N	0.227	0.25499	-1.0414	0.16890	T	0.073	0.29707	T	10	0.15815675	0.29747	T	0.038882	0.58488	D	0.059	0.16972	0.202	0.11659	0.422040124859	0.41822	0.35018634826125405	0.34932	1.83701486892	0.92119	0.768205404282	0.77157	T	0.124956	0.45033	T	-0.268376	0.11939	T	-0.62328	0.10930	T	0.756438791751862	0.43648	D	0.411059	0.10645	T	0.124185346	0.29142	0.15642919	0.36625	0.124185346	0.29142	0.15642919	0.36624	-6.509	0.50356	T	.	.	0.132	0.28348	B	.	.	2.099603	0.26715	17.21	0.96700031055405389	0.30770	0.02893	0.07682	N	AEFDGBHCI	0.025533	0.01764	N	-0.562140681340929	0.20105	1.057407	-0.755498830936556	0.15588	0.8205384	0.999999999999993	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.1	1.15	0.19876	-0.451000	0.06869	1.344000	0.25758	0.451000	0.21329	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.0:0.7324:0.0:0.2676	5.637	0.16819	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	59	chr1	6245377	.	C	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.324;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,924	18	0	1	0
chr1	6468543	6468543	C	G	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001042665:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001265593:exon20:c.G2500C:p.E834Q,PLEKHG5:NM_001265594:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_020631:exon20:c.G2293C:p.E765Q,PLEKHG5:NM_001042663:exon21:c.G2404C:p.E802Q,PLEKHG5:NM_001265592:exon21:c.G2404C:p.E802Q,PLEKHG5:NM_198681:exon21:c.G2293C:p.E765Q	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	589392	Charcot-Marie-Tooth_disease_recessive_intermediate_C|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|not_provided	MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0532090469457	.	0.000798722	0.0001	0	0	0	0	0	0	0.0008	0.00011	17	154602	rs532817130	5.408e-05	5.404e-05	3.133e-05	7.706e-05	0.0009	4.413e-05	4.085e-05	0.0007	0.0007	0	0	0	0	0	0	8.993e-07	4.969e-05	0.0009	3.941e-05	3.937e-05	2.571e-05	5.373e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.04	0.42199	D	0.028	0.54934	D	0.029	0.20614	B	0.018	0.20792	B	0.000175	0.48594	N	0.209276	0.97668	0.81001	D	1.83	0.48079	L	-0.55	0.71068	T	-1.29	0.34198	N	0.078	0.08506	-0.7292	0.59004	T	0.215	0.57679	T	10	0.017491132	0.00374	T	0.053209	0.65376	D	0.065	0.18881	0.287	0.24601	0.516770950016	0.51320	0.2880013141973609	0.28713	0.288772556324	0.31287	0.429619342089	0.29156	T	0.255835	0.62667	T	-0.32334	0.06627	T	-0.306055	0.44081	T	0.0668211082908482	0.08197	T	0.790821	0.43180	T	0.096849866	0.22820	0.07662659	0.16989	0.096849866	0.22820	0.07662659	0.16989	-8.813	0.66485	D	.	.	0.124	0.26042	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.561181	0.33167	19.26	0.99073816667642034	0.51786	0.93582	0.58611	D	AEFDBCI	0.612012	0.60024	D	-0.311785949027818	0.28699	1.58517	-0.172004657903849	0.32571	1.854406	0.999997380639552	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.48	4.55	0.55429	4.000000	0.56751	4.820000	0.45111	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.087000	0.17632	0.0:0.855:0.145:0.0	14.825	0.69737	835	0.38313	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	38	chr1	6468543	.	C	G	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.034;SOR=0.664	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	6474053	6474053	C	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon7:c.G551A:p.R184H,PLEKHG5:NM_001042665:exon7:c.G551A:p.R184H,PLEKHG5:NM_001265593:exon7:c.G758A:p.R253H,PLEKHG5:NM_001265594:exon7:c.G551A:p.R184H,PLEKHG5:NM_020631:exon7:c.G551A:p.R184H,PLEKHG5:NM_001042663:exon8:c.G662A:p.R221H,PLEKHG5:NM_001265592:exon8:c.G662A:p.R221H,PLEKHG5:NM_198681:exon8:c.G551A:p.R184H	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	244286	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.491648895832	.	.	1.156e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs750080171	6.854e-06	7.524e-06	8.181e-06	5.512e-06	5.984e-05	3.47e-06	2.53e-06	9.91e-06	3.71e-06	5.984e-05	0	0	0	0	0	6.299e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.997	0.73220	D	0.901	0.63994	P	0.000662	0.42516	D	0.081067	0.764388	0.34076	D	1.78	0.46185	L	-0.46	0.70249	T	-2.12	0.48184	N	0.256	0.33030	0.198	0.85876	D	0.467	0.79416	T	10	0.2846477	0.46047	T	0.491649	0.95009	D	0.210	0.50028	0.294	0.25720	0.7147715253	0.71226	0.2915071303799954	0.29063	0.691426888625	0.60596	0.601397871971	0.53101	T	0.164062	0.50937	T	-0.0174415	0.49216	T	-0.26283	0.48540	T	0.579688966274261	0.35607	D	0.949705	0.80662	D	0.11503938	0.27150	0.11486898	0.27728	0.11503938	0.27150	0.11486898	0.27727	-6.528	0.52559	T	.	.	0.091	0.15609	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.234591	0.64158	24.7	0.99957606538241572	0.99986	0.20841	0.21188	N	AEFDBI	0.205875	0.33219	N	0.214489900527089	0.51901	3.367923	0.104987016714482	0.44804	2.755052	0.999035360002107	0.38264	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	0.950000	0.28720	5.858000	0.50403	0.576000	0.29215	0.024000	0.20007	1.000000	0.68203	0.594000	0.31239	0.0:1.0:0.0:0.0	15.024	0.71311	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1001.33	35	chr1	6474053	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=744;ExcessHet=0;FS=6.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.13;SOR=0.754	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1330	18	0	1	0
chr1	6477538	6477538	G	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon2:c.C34A:p.P12T,PLEKHG5:NM_001042665:exon2:c.C34A:p.P12T,PLEKHG5:NM_001265593:exon2:c.C241A:p.P81T,PLEKHG5:NM_001265594:exon2:c.C34A:p.P12T,PLEKHG5:NM_020631:exon2:c.C34A:p.P12T,PLEKHG5:NM_001042663:exon3:c.C145A:p.P49T,PLEKHG5:NM_001265592:exon3:c.C145A:p.P49T,PLEKHG5:NM_198681:exon3:c.C34A:p.P12T	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	244294	Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Charcot-Marie-Tooth_disease_recessive_intermediate_C|not_provided|PLEKHG5-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	0.149601944655	0.0003	0.000798722	0.0014	0.0003	0.0004	0	0	0.0004	0.0011	0.0084	0.0012484	193	154602	rs140687324	0.0007	0.0007	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	0.0002	0.0005	0.0002	2.519e-05	0	0.0021	0.0002	0.0011	0.0085	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	4.81e-05	0	0.0002	0.0003	0	0	0.0034	0.0004	0.0009	0.0043	0.005	0.63226	D	0.037	0.51737	D	0.911	0.50336	P	0.392	0.44215	B	0.000261	0.46924	D	0.147380	0.537585	0.81001	D	1.5	0.37844	L	0.65	0.71425	T	-2.99	0.63323	D	0.544	0.59986	-0.3808	0.72626	T	0.257	0.62721	T	10	0.009963274	0.00223	T	0.149602	0.83139	D	0.144	0.38394	.	.	0.776347765929	0.77428	0.2151088601651428	0.21426	0.976565210549	0.73585	0.490697264671	0.37536	T	0.565013	0.85503	D	-0.337574	0.05557	T	-0.25128	0.49690	T	0.0498441199077018	0.05473	T	0.951005	0.84742	D	0.14777207	0.33767	0.118723296	0.28657	0.13641535	0.31624	0.1322113	0.31731	-10.308	0.75735	D	.	.	0.110	0.34227	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.516845	0.32515	19.07	0.99192941050664951	0.55024	0.96660	0.70264	D	AEFDBI	0.575831	0.57806	D	0.213610288346665	0.51858	3.363941	0.225171061789757	0.51249	3.308989	0.996786494345912	0.35006	0.706548	0.73137	0	0.588066	0.40923	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.52	3.58	0.40133	3.901000	0.56015	6.337000	0.55470	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0909:0.1628:0.7463:0.0	8.134	0.30206	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.014946	0.005848	0.000000	0.017241	0.012195	0.003788	0.02632	1331.33	34	chr1	6477538	.	G	T	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.112;DP=734;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.369;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	18	0	1	0
chr1	6579124	6579124	C	T	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_177540:exon5:c.C1304T:p.A435V,TAS1R1:NM_138697:exon6:c.C2066T:p.A689V	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0376526712709	0.0018	0.00139776	0.0018	0.0002	0.0003	0	0.0005	0.0024	0	0.0028	0.0018111	280	154602	rs114555118	0.0026	0.0026	0.0027	0.0026	0.0031	0.0026	0.0025	0.0030	0.0030	0.0005	0.0004	0	0	0.0005	0.0014	0.0031	0.0016	0.0027	0.0013	0.0013	0.0014	0.0012	0.0035	0.0012	0.0011	0.0022	0.0019	0.0004	0	0.0003	0	0	9.407e-05	0	0.0023	0.0014	0.0035	1.0	0.00964	T	0.937	0.02717	T	0.015	0.22227	B	0.022	0.19653	B	0.738748	0.06415	N	1.126930	1	0.08975	N	-0.63	0.02141	N	-1.91	0.84701	D	1.15	0.01151	N	0.075	0.09066	-0.8869	0.49198	T	0.256	0.62643	T	10	0.005949557	0.00133	T	0.037653	0.57750	D	0.142	0.37995	.	.	0.470401675101	0.46669	0.10029127665834722	0.09960	0.170216262749	0.19188	0.255048185587	0.04318	T	0.071376	0.34191	T	-0.477406	0.00766	T	-0.458544	0.26759	T	0.014427088133517	0.00291	T	0.706929	0.31753	T	0.03904084	0.05317	0.08998997	0.21077	0.03904084	0.05317	0.08998997	0.21076	-2.318	0.04655	T	.	.	0.070	0.04723	B	.;.	.;.	-0.732979	0.01246	0.064	0.6983432268061508	0.09099	0.01541	0.05062	N	AEFGBHI	0.057583	0.10740	N	-1.47999514838448	0.01991	0.08747837	-1.44440124198584	0.02821	0.1304695	0.999937190473512	0.46732	0.428477	0.06694	0	0.547309	0.14657	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	5.37	-1.99	0.07047	-1.953000	0.01617	-0.384000	0.09521	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.0:0.387:0.0:0.613	12.57	0.55681	768	0.49510	GPCR family 3, C-terminal|GPCR family 3, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	2891.33	35	chr1	6579124	.	C	T	2891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.107;DP=856;ExcessHet=0;FS=5.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.292;SOR=0.47	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr1	6581000	6581000	G	C	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon2:c.G391C:p.G131R,ZBTB48:NM_001278648:exon2:c.G391C:p.G131R,ZBTB48:NM_005341:exon2:c.G391C:p.G131R	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0002	0.000998403	0.0021	0.0001	0.0046	0	0	0.0004	0.0033	0.0104	0.0017076	264	154602	rs200132214	0.0009	0.0009	0.0005	0.0012	0.0107	0.0008	0.0008	0.0102	0.0099	0.0002	0.0024	0.0002	0	0	0.0024	0.0001	0.0009	0.0107	0.0005	0.0005	0.0003	0.0006	0.0091	0.0004	0.0003	0.0070	0.0062	4.812e-05	0	0.0007	0.0003	0	0	0.0068	0.0002	0	0.0091	0.081	0.33418	T	0.465	0.35710	T	0.011	0.15914	B	0.005	0.11217	B	0.039961	0.24111	N	0.459886	1	0.08975	N	.	.	.	1.8	0.25509	T	-1.15	0.29525	N	0.109	0.09490	-1.0574	0.12414	T	0.040	0.17234	T	10	0.0033471286	0.00058	T	.	.	.	0.035	0.08770	0.217	0.13788	0.043077524339	0.03247	0.36353198169895623	0.36267	0.450729479495	0.44836	0.386905312538	0.23232	T	0.063585	0.32215	T	-0.519697	0.00442	T	-0.511323	0.21179	T	0.0335401307800138	0.02561	T	0.806219	0.45479	T	0.112690106	0.26621	0.12003911	0.28972	0.112690106	0.26620	0.12003911	0.28971	-4.249	0.27455	T	.	.	0.133	0.40858	B	.;.;.	.;.;.	2.297345	0.29395	18.11	0.99599395657260059	0.74101	0.22629	0.21810	N	ALL	0.166628	0.29322	N	-0.53444359738725	0.20974	1.109666	-0.409121664179864	0.24730	1.355839	0.999999999999931	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.721622	0.92947	0	.	.	5.18	5.18	0.71140	1.350000	0.33615	7.458000	0.59026	0.672000	0.70159	0.016000	0.19238	1.000000	0.68203	0.559000	0.30388	0.0:0.0:1.0:0.0	16.193	0.81824	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.018939	0.05263	4443.81	33	chr1	6581000	.	G	C	4443.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.03;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1112	18	1	0	0
chr1	6589148	6589148	G	T	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon11:c.G2003T:p.G668V,ZBTB48:NM_001278648:exon11:c.G2003T:p.G668V,ZBTB48:NM_005341:exon11:c.G2003T:p.G668V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00814537627153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.118	0.36233	T	0.023	0.18885	B	0.031	0.21939	B	0.491458	0.12052	N	0.774897	1	0.08975	N	.	.	.	2.97	0.09450	T	0.88	0.01664	N	0.271	0.30687	-0.9535	0.40363	T	0.014	0.05369	T	10	0.09009245	0.15664	T	0.008145	0.21572	T	0.096	0.27654	0.424	0.46857	0.043077524339	0.03247	0.47514606454269026	0.47433	0.502464512018	0.48603	0.319777220488	0.13387	T	0.055971	0.30157	T	-0.252489	0.13794	T	-0.600459	0.12772	T	0.119171112775803	0.14349	T	0.530047	0.17581	T	0.051588304	0.09496	0.047546696	0.06873	0.051588304	0.09495	0.047546696	0.06872	-3.902	0.22333	T	.	.	0.103	0.18289	B	.	.	0.916335	0.12909	9.419	0.52692280003553105	0.04796	0.48433	0.28206	N	AEFDBHCI	0.188219	0.31549	N	-1.00235992956315	0.08555	0.4015515	-0.919236086623293	0.11641	0.5942727	0.999999933804518	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.34	4.43	0.52967	2.075000	0.41163	6.945000	0.57004	-0.113000	0.14837	0.014000	0.18986	0.999000	0.35428	0.000000	0.00833	0.0855:0.1686:0.7459:0.0	8.271	0.31002	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr1	6589148	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.113;DP=711;ExcessHet=0;FS=2.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-2.054;SOR=0.416	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1199	18	0	1	0
chr1	7663985	7663985	A	G	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349608:exon8:c.A1348G:p.T450A,CAMTA1:NM_001349612:exon8:c.A1348G:p.T450A,CAMTA1:NM_001349609:exon9:c.A1438G:p.T480A,CAMTA1:NM_001349610:exon9:c.A1438G:p.T480A,CAMTA1:NM_015215:exon9:c.A1438G:p.T480A	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3077057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.00356458728332	.	0.00199681	0.0006	0	0	0.0086	0	1.501e-05	0	6.057e-05	0.0005757	89	154602	rs138123146	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0054	0.0052	2.987e-05	0	0	0.0061	0	0	4.496e-06	0.0003	0.0002	0.0004	0.0004	0.0003	0.0004	0.0105	0.0003	0.0003	0.0083	0.0075	2.407e-05	0	0	0	0.0105	0	0	2.941e-05	0	0.0002	0.257	0.16738	T	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000098	0.51296	N	0.173169	0.98597	0.24661	N	0	0.06538	N	0.99	0.41750	T	-1.21	0.30762	N	0.18	0.19459	-1.0554	0.12934	T	0.040	0.17234	T	10	0.0050860345	0.00110	T	0.003565	0.08123	T	0.098	0.28162	.	.	0.307279486299	0.30330	0.3192035588319111	0.31833	0.475333967589	0.46711	0.619276165962	0.55626	T	0.023031	0.17650	T	-0.63495	0.00089	T	-0.67445	0.07326	T	0.0455934127705799	0.04710	T	0.820318	0.47908	T	0.0551138	0.10667	0.05566608	0.09807	0.0551138	0.10667	0.05566608	0.09807	-3.731	0.19776	T	0.15718647448082046	0.18965	0.063	0.01428	B	.	.	2.379905	0.30549	18.47	0.92125835700244307	0.21482	0.95637	0.65522	D	AEFBI	0.477845	0.52066	N	-0.336753669694051	0.27761	1.525774	-0.171492437285394	0.32592	1.855695	0.00440468175936787	0.10539	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.633917	0.49826	0	.	.	5.02	2.66	0.30672	5.259000	0.65304	3.053000	0.36128	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6851:0.0:0.1633:0.1516	4.066	0.09339	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2049.33	33	chr1	7663985	.	A	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.089;DP=953;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.189;SOR=0.858	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	7786748	7786748	G	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.G302C:p.S101T,PER3:NM_001289862:exon4:c.G302C:p.S101T,PER3:NM_001289863:exon4:c.G302C:p.S101T,PER3:NM_001377275:exon4:c.G302C:p.S101T,PER3:NM_001377276:exon4:c.G302C:p.S101T,PER3:NM_016831:exon4:c.G302C:p.S101T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0109695128164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016978300	1.166e-05	1.163e-05	1.093e-05	1.241e-05	0.0003	7.11e-06	5.81e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	1.173e-05	3.32e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.353	0.12187	T	0.793	0.04155	T	0.983	0.60381	D	0.721	0.54900	P	0.114955	0.19254	U	0.484283	1	0.08975	N	1.03	0.25572	L	1.48	0.31731	T	-1.12	0.32991	N	0.191	0.27197	-1.0551	0.13013	T	0.076	0.30553	T	10	0.090088636	0.15664	T	0.01097	0.28104	T	0.066	0.19193	0.345	0.33950	0.468586609112	0.46487	0.20581028587758657	0.20498	0.219265997047	0.24462	0.369256496429	0.20725	T	0.02847	0.34869	T	-0.453769	0.01073	T	-0.697901	0.05940	T	0.0756987705826759	0.09429	T	0.651335	0.26282	T	0.047539983	0.08141	0.042481598	0.05069	0.047539983	0.08140	0.042481598	0.05069	-6.654	0.52291	T	0.4712745994848644	0.55168	0.107	0.25331	B	.;.;.;.;.	.;.;.;.;.	2.856706	0.37735	20.6	0.85892052917204209	0.16179	0.15076	0.18732	N	AEFBI	0.076221	0.15327	N	-0.621207167378068	0.18307	0.9494574	-0.762533724339042	0.15414	0.8105999	0.995266953923062	0.34034	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.32	2.43	0.28797	1.001000	0.29384	2.727000	0.34358	-0.106000	0.15538	0.010000	0.18352	0.137000	0.23056	0.123000	0.19290	0.2897:0.0:0.7103:0.0	8.083	0.29918	726	0.54788	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	957.33	35	chr1	7786748	.	G	C	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=723;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=1.89;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	18	0	1	0
chr1	7827202	7827202	G	A	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon18:c.G2273A:p.S758N,PER3:NM_001289862:exon18:c.G2273A:p.S758N,PER3:NM_001289863:exon18:c.G2252A:p.S751N,PER3:NM_001289864:exon18:c.G1316A:p.S439N,PER3:NM_001377275:exon18:c.G2273A:p.S758N,PER3:NM_001377276:exon18:c.G2252A:p.S751N,PER3:NM_016831:exon18:c.G2249A:p.S750N	.	410	1084	28	0	0	28	0.0127505	.	.	.	696879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.090	.	0.0045	0.00299521	0.0057	0.0015	0.0025	0.0001	0.0020	0.0067	0.0068	0.0109	0.0055303	855	154602	rs140974114	0.0067	0.0067	0.0067	0.0068	0.0107	0.0066	0.0066	0.0087	0.0085	0.0012	0.0030	0.0038	0	0.0020	0.0107	0.0075	0.0053	0.0092	0.0047	0.0047	0.0051	0.0043	0.0075	0.0044	0.0043	0.0070	0.0067	0.0014	0.0230	0.0033	0.0052	0	0.0015	0.0136	0.0075	0.0052	0.0058	0.06	0.53172	T	0.023	0.57587	D	0.443	0.35940	B	0.112	0.31615	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.935	0.51832	L	2.7	0.12371	T	-1.11	0.28703	N	0.062	0.07125	-0.9394	0.42711	T	0.038	0.16246	T	10	0.0038220286	0.00072	T	.	.	.	0.090	0.26093	.	.	0.402899589544	0.39908	0.10486589036774804	0.10416	0.222339536116	0.24767	0.255118489265	0.04326	T	0.058268	0.50683	T	-0.699133	0.00037	T	-0.767638	0.02847	T	0.0246835238520997	0.01231	T	0.353565	0.07967	T	0.1713542	0.37764	0.16042301	0.37365	0.13994	0.32306	0.16042301	0.37364	-5.066	0.37548	T	0.3907261575740155	0.48394	0.111	0.24733	B	.;.;.;.	.;.;.;.	1.112850	0.14983	11.49	0.98711722552166736	0.45069	0.19769	0.20788	N	AEFDBHCI	0.059648	0.11282	N	-0.652478039679611	0.17388	0.8943448	-0.748341493480713	0.15762	0.8306339	0.999999997561841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.375	0.06713	1	.	.	4.43	2.48	0.29194	0.661000	0.24706	0.091000	0.14516	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.2986:0.7014:0.0	12.329	0.54353	524	0.74079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009063	0.010101	0.004076	0.008772	0.050000	0.017241	0.012195	0.007576	0.02632	1108.33	35	chr1	7827202	.	G	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=839;ExcessHet=0;FS=10.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.579;SOR=1.923	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.05263	8136.83	130	chr1	7830093	.	C	T	8136.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=2287;ExcessHet=0.119;FS=1.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:182,169:351:99:4391,0,4815	17	0	2	0
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	62.55	35	chr1	7933279	.	T	C	62.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.803;DP=643;ExcessHet=0;FS=5.63;InbreedingCoeff=-0.0707;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.804;SOR=2.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:66:.:.:0,66,734:.	15	0	1	3
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:54:.:.:0,54,691:.	5	0	11	3
chr1	7933285	7933285	G	A	exonic	TNFRSF9	.	stopgain	TNFRSF9:NM_001561:exon7:c.C556T:p.Q186X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.332256	0.04138	N	1.435410	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.855	0.85132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366827	0.87775	D	0.289145	0.87619	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.175517	0.94728	34	0.99348834800104535	0.60493	0.10423	0.15934	N	AEFBI	0.048918	0.08399	N	0.241177414207673	0.53206	3.490411	-0.0555314215728076	0.37251	2.178615	0.420669811402195	0.20289	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	4.43	0.52967	1.197000	0.31819	2.034000	0.30268	0.676000	0.76740	0.002000	0.15269	0.019000	0.20708	0.139000	0.19909	0.0:0.0:1.0:0.0	12.735	0.56589	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	67.33	33	chr1	7933285	.	G	A	67.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.639;DP=639;ExcessHet=0;FS=8.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=0.314;SOR=2.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:63:.:.:0,63,733:.	18	0	1	0
chr1	8360344	8360344	T	C	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon8:c.A1501G:p.T501A,RERE:NM_001042681:exon18:c.A3163G:p.T1055A,RERE:NM_012102:exon19:c.A3163G:p.T1055A	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0197316229329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.662	0.06469	T	0.002	0.19866	B	0.002	0.14941	B	.	.	.	.	0.996662	0.81001	D	1.845	0.48678	L	0.95	0.43279	T	-0.6	0.25118	N	0.147	0.15749	-1.0665	0.10200	T	0.078	0.31224	T	9	0.13573647	0.25829	T	0.019732	0.42166	T	0.136	0.36778	0.412	0.44887	0.536231820724	0.53273	0.366014968067863	0.36515	0.348634746703	0.36727	0.604460477829	0.53534	T	0.091067	0.38719	T	-0.150647	0.28209	T	-0.454171	0.27237	T	0.120966815294825	0.14524	T	0.70443	0.32115	T	0.1811406	0.39270	0.11644577	0.28111	0.1811406	0.39270	0.11644577	0.28110	-3.398	0.15030	T	0.13073248026283504	0.13780	0.062	0.02488	B	.;.;.;.	.;.;.;.	2.112287	0.26880	17.27	0.55689332139226755	0.05394	0.89963	0.50779	D	AEFDBCI	0.173580	0.30067	N	-0.624128227715452	0.18221	0.9442738	-0.500830591763963	0.22131	1.200559	0.99604968422068	0.34489	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.11	3.98	0.45383	1.695000	0.37381	3.947000	0.40646	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0828:0.0:0.9172	9.695	0.39317	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	519.33	33	chr1	8360344	.	T	C	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.696;DP=762;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.184;SOR=0.346	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1224	18	0	1	0
chr1	9262317	9262317	C	T	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon4:c.C1037T:p.P346L,H6PD:NM_004285:exon4:c.C1004T:p.P335L	Cortisone reductase deficiency 1, Autosomal recessive	2	1500	19	1	0	21	0.00695134	.	.	.	696913	H6PD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.899	0.288582999981	0.0021	0.00299521	0.0032	0.0019	0.0056	0	0	0.0034	0.0041	0.0038	0.0020892	323	154602	rs140631516	0.0025	0.0025	0.0025	0.0025	0.0125	0.0024	0.0024	0.0101	0.0093	0.0014	0.0034	0.0069	0	0.0002	0.0125	0.0024	0.0033	0.0034	0.0019	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0020	0.0019	0.0014	0	0.0023	0.0049	0.0002	0	0.0170	0.0023	0.0028	0.0031	0.003	0.68238	D	0.006	0.72224	D	1.0	0.90584	D	0.976	0.73562	D	0.000000	0.84330	D	0.050129	1	0.81001	D	3.17	0.88688	M	-4.95	0.98428	D	-6.94	0.93440	D	0.911	0.91505	0.908	0.95787	D	0.955	0.98555	D	10	0.082437456	0.13607	T	0.288583	0.90484	D	0.899	0.97173	.	.	0.983126997557	0.98293	0.732442199594454	0.73189	0.520382763102	0.49834	0.66036272049	0.61461	T	0.911964	0.98349	D	0.169824	0.71107	D	0.467799	0.93964	D	0.065449511711199	0.07998	T	0.941106	0.78031	D	0.7572626	0.81292	0.6580513	0.79972	0.78228015	0.82796	0.6045666	0.77017	-9.803	0.72724	D	0.7086663488826273	0.78859	0.369	0.58999	A	.;.	.;.	5.043552	0.83965	28.2	0.99890017959383881	0.96436	0.96518	0.69540	D	AEFBI	0.621420	0.60612	D	0.841822511234359	0.88638	9.653966	0.759921471291918	0.86896	9.038762	0.999997002485183	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.612000	0.67362	7.541000	0.60087	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.1628:0.8372:0.0:0.0	12.860	0.57297	881	0.29269	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019388	0.041667	0.021798	0.018182	0.000000	0.043103	0.003086	0.003788	0.02632	1309.33	35	chr1	9262317	.	C	T	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=728;ExcessHet=0;FS=6.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.345;SOR=0.296	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr1	9601210	9601210	G	A	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001010866:exon5:c.G712A:p.G238R,TMEM201:NM_001130924:exon5:c.G712A:p.G238R	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00577101822452	0.0002	.	2.494e-05	0.0002	0	0	0	1.516e-05	0	0	1.94e-05	3	154602	rs140164574	1.438e-05	1.505e-05	1.09e-05	1.79e-05	0.0002	9.24e-06	7.84e-06	9.9e-06	6.42e-06	5.975e-05	0	0	0	3.855e-05	0.0002	1.349e-05	1.657e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0.0005	0	0.256	0.21801	T	0.076	0.42614	T	0.6	0.39325	P	0.116	0.31939	B	0.354884	0.13758	N	0.683960	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.3	0.13035	N	0.185	0.20129	-0.9898	0.32652	T	0.038	0.16246	T	9	0.059018105	0.07030	T	0.005771	0.14982	T	0.136	0.36778	0.386	0.40624	0.134007934775	0.12933	0.6053182688498677	0.60462	0.313395540334	0.33629	0.300272077322	0.10441	T	0.003693	0.03101	T	-0.222885	0.17600	T	-0.321267	0.42436	T	0.0159682985395193	0.00379	T	0.540046	0.18281	T	0.031149263	0.02903	0.03349881	0.02255	0.031149263	0.02903	0.03349881	0.02255	-4.366	0.29092	T	.	.	0.094	0.15654	B	.;.	.;.	1.539692	0.19747	14.42	0.91769660016639087	0.21071	0.14960	0.18674	N	AEFDBCI	0.080059	0.16180	N	-1.02767561257547	0.08033	0.3752269	-1.15027134758559	0.06762	0.3266478	0.971623785105145	0.29302	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.98	-3.54	0.04356	0.419000	0.20967	2.155000	0.30939	-0.106000	0.15538	0.050000	0.21411	0.141000	0.23092	0.002000	0.04165	0.3538:0.1168:0.5294:0.0	7.857	0.28653	774	0.48577	.;Transmembrane protein 201, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1659.33	33	chr1	9601210	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=784;ExcessHet=0;FS=7.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.527;SOR=1.012	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1409	18	0	1	0
chr1	9601231	9601231	A	G	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001010866:exon5:c.A733G:p.T245A,TMEM201:NM_001130924:exon5:c.A733G:p.T245A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00267878150657	.	.	8.332e-06	0	0	0	0	0	0	6.1e-05	6.5e-06	1	154602	rs765177171	6.166e-06	6.156e-06	4.091e-06	8.262e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.397e-06	1.657e-05	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.827	0.05488	T	0.0	0.02946	B	0.001	0.04355	B	0.561162	0.05425	N	1.223500	0.999999	0.08975	N	-0.83	0.01527	N	.	.	.	-0.03	0.07444	N	0.051	0.02272	-0.9946	0.31405	T	0.029	0.12409	T	9	0.027929068	0.00931	T	0.002679	0.05492	T	0.017	0.02790	0.333	0.32005	0.082315109003	0.07666	0.468926225345958	0.46811	0.259433600952	0.28498	0.328318297863	0.14680	T	0.001128	0.00635	T	-0.256881	0.13267	T	-0.509914	0.21323	T	0.0125689982726392	0.00209	T	0.471053	0.13966	T	0.011783111	0.00022	0.015301747	0.00006	0.011783111	0.00022	0.015301747	0.00006	-2.382	0.06511	T	.	.	0.057	0.00693	B	.;.	.;.	-0.606369	0.01554	0.102	0.30178668651942842	0.01638	0.03083	0.08002	N	AEFDBCI	0.036681	0.04928	N	-1.6717644007005	0.00947	0.04100743	-1.71126184215369	0.01088	0.04888134	0.999888862430901	0.44867	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.98	-7.73	0.01107	-0.013000	0.12615	-0.438000	0.09178	-0.065000	0.16512	0.001000	0.13787	0.000000	0.08366	0.050000	0.15192	0.117:0.307:0.4706:0.1054	4.802	0.12668	774	0.48577	.;Transmembrane protein 201, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2338.33	33	chr1	9601231	.	A	G	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.159;DP=835;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.207;SOR=0.581	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1409	18	0	1	0
chr1	10095509	10095509	G	C	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_001105562:exon3:c.G260C:p.S87T,UBE4B:NM_006048:exon3:c.G260C:p.S87T	.	.	.	.	.	.	.	.	.	.	.	3341419	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0195117504902	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs775888771	4.036e-05	4.036e-05	4.22e-05	3.85e-05	0.0043	3.178e-05	2.91e-05	0.0030	0.0026	0	0	0	0	0	0.0043	1.978e-05	6.623e-05	9.275e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.448	0.29688	T	0.326	0.18789	T	0.954	0.54666	P	0.916	0.66596	D	0.000000	0.84330	D	0.000000	0.999686	0.81001	D	1.7	0.43825	L	0.83	0.51228	T	-0.99	0.26200	N	0.393	0.43417	-0.9064	0.47285	T	0.219	0.58227	T	10	0.27910477	0.45482	T	0.019512	0.41891	T	0.177	0.44549	0.167	0.07186	0.357630699053	0.35373	0.5409626305628334	0.54021	0.348389392483	0.36710	0.766284942627	0.76868	T	0.174892	0.52428	T	-0.199021	0.20947	T	-0.286988	0.46085	T	0.249615877106425	0.22855	T	0.964804	0.89535	D	0.25558484	0.48593	0.24561705	0.50054	0.25558484	0.48593	0.24561705	0.50053	-4.936	0.36557	T	.	.	0.282	0.51523	B	.;.	.;.	4.297375	0.65585	24.9	0.99086928484430781	0.52124	0.99093	0.91122	D	AEFBI	0.901374	0.84800	D	0.657746581043957	0.76873	6.566983	0.697048523188248	0.82152	7.697395	0.999999994899708	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	9.516000	0.97042	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.399	0.94612	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.011696	0.000000	0.008621	0.000000	0.003788	0.05263	3215.83	33	chr1	10095509	.	G	C	3215.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.844;DP=874;ExcessHet=0.119;FS=3.255;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=2.57;SOR=0.521	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	17	0	2	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,100:264:99:0|1:10326244_G_C:2428,0,5370:10326244	7	0	12	0
chr1	10433932	10433945	GCGGCCATTTCGGA	-	exonic	CENPS;CENPS-CORT	.	frameshift deletion	CENPS-CORT:NM_001270517:exon2:c.142_155del:p.A49Dfs*6,CENPS-CORT:NM_198544:exon2:c.142_155del:p.A49Dfs*6,CENPS-CORT:NM_199006:exon2:c.142_155del:p.A49Dfs*6,CENPS:NM_199294:exon2:c.142_155del:p.A49Dfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1777.29	33	chr1	10433931	.	TGCGGCCATTTCGGA	T	1777.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=1.89;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	18	0	1	0
chr1	10469269	10469269	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon2:c.T206C:p.I69T,DFFA:NM_213566:exon2:c.T206C:p.I69T	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0124785387908	0.0033	0.00219649	0.0034	0.0005	0.0025	0	0.0008	0.0047	0.0077	0.0031	0.0034734	537	154602	rs138842024	0.0045	0.0045	0.0046	0.0045	0.0151	0.0044	0.0044	0.0125	0.0116	0.0007	0.0031	0.0015	2.519e-05	0.0005	0.0151	0.0052	0.0041	0.0035	0.0032	0.0032	0.0034	0.0031	0.0059	0.0030	0.0029	0.0049	0.0045	0.0007	0.0022	0.0059	0.0009	0	0.0005	0.0102	0.0049	0.0052	0.0031	0.064	0.36509	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	.	.	.	-2.22	0.51478	N	0.697	0.70175	-0.5091	0.68319	T	0.282	0.65399	T	9	0.016964287	0.00360	T	0.012479	0.31090	T	0.598	0.84074	.	.	0.698768432235	0.69616	0.42236400297861965	0.42153	1.02612671619	0.75280	0.56750524044	0.48325	T	0.231903	0.59834	T	0.0125401	0.53371	T	0.247571	0.85504	D	0.0113790384437481	0.00170	T	0.740126	0.35895	T	0.6165737	0.73580	0.4538176	0.68238	0.6165737	0.73581	0.4538176	0.68238	-7.612	0.58394	D	.	.	0.530	0.65937	A	.;.	.;.	4.307904	0.65834	24.9	0.99801278914353586	0.88639	0.99115	0.91446	D	AEFGBI	0.899852	0.84471	D	0.678280936748503	0.78211	6.825754	0.687543685434773	0.81434	7.52536	0.999999227905108	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	6.424000	0.73282	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.613	0.76492	381	0.83684	CIDE-N domain|CIDE-N domain|CIDE-N domain;CIDE-N domain|CIDE-N domain|CIDE-N domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.019022	0.011696	0.000000	0.017241	0.018293	0.011364	0.02632	1891.33	40	chr1	10469269	.	A	G	1891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.046;DP=873;ExcessHet=0;FS=9.133;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.239;SOR=0.291	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	10659877	10659877	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G1165C:p.V389L,CASZ1:NM_017766:exon6:c.G1165C:p.V389L	.	.	.	.	.	.	.	.	.	.	.	2910383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.067	0.00492363081495	0.0022	0.000998403	0.0005	0.0053	0.0004	0	0	6.26e-05	0	6.186e-05	0.0004722	73	154602	rs145422074	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0004	0	0	0	0.0021	3.061e-05	0.0005	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0.0001	0.0014	0	0.169	0.37966	T	0.425	0.13912	T	0.005	0.12996	B	0.007	0.12992	B	0.072888	0.21381	N	0.495689	0.999999	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.11185	N	0.202	0.25499	-1.0511	0.14092	T	0.044	0.18948	T	9	0.004233271	0.00085	T	0.004924	0.12380	T	0.067	0.19503	.	.	0.0934897674506	0.08844	0.20601532280971077	0.20518	.	.	0.449248731136	0.31841	T	0.152627	0.49310	T	-0.581308	0.00189	T	-0.606832	0.12243	T	0.00206120113121569	0.00021	T	0.521348	0.17328	T	0.04749861	0.08127	0.052684743	0.08728	0.04749861	0.08127	0.052684743	0.08728	-2.853	0.09314	T	.	.	0.097	0.15743	B	.;.	.;.	2.315466	0.29642	18.19	0.96017262906046119	0.28462	0.77999	0.38419	D	AEFBI	0.185714	0.31303	N	-0.464827164123193	0.23240	1.24661	-0.310930504939589	0.27745	1.541738	0.969932732163445	0.29168	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.63	3.7	0.41607	0.628000	0.24215	2.207000	0.31336	-0.237000	0.07570	0.432000	0.26424	0.996000	0.32793	0.847000	0.40026	0.0:0.7635:0.1516:0.0849	8.787	0.33985	776	0.48302	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005102	0.012228	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	646.33	34	chr1	10659877	.	C	G	646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=744;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.248;SOR=0.815	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1269	18	0	1	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M,CASZ1:NM_017766:exon6:c.C845T:p.T282M	.	422	1056	40	4	0	48	0.0222222	.	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.011765	0.050000	0.017241	0.024390	0.018939	0.05263	2430.83	34	chr1	10660197	.	G	A	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.81;DP=866;ExcessHet=0.119;FS=1.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.79;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1269	17	0	2	0
chr1	10660231	10660231	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G811C:p.G271R,CASZ1:NM_017766:exon6:c.G811C:p.G271R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0190705119908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.067	0.44302	T	0.958	0.90584	D	0.483	0.74104	P	0.027329	0.25774	N	0.363429	0.998999	0.21728	N	0.695	0.17993	N	.	.	.	-1.45	0.36189	N	0.331	0.37197	-1.0330	0.19490	T	0.100	0.37188	T	9	0.18861061	0.34424	T	0.019071	0.41331	T	0.122	0.33800	0.506	0.60078	0.0934897674506	0.08844	0.12599770800410806	0.12525	.	.	0.566085398197	0.48126	T	0.229763	0.59567	T	-0.0112317	0.50094	T	-0.25391	0.49430	T	0.579775096032711	0.35610	D	0.821218	0.48050	T	0.11376631	0.26864	0.10289799	0.24676	0.11376631	0.26864	0.10289799	0.24675	-4.016	0.24042	T	.	.	0.312	0.53951	B	.;.	.;.	3.429694	0.47660	22.5	0.9913573975565495	0.53383	0.44630	0.27360	N	AEFBI	0.075481	0.15159	N	0.136203757738176	0.48159	3.031803	0.133184461497943	0.46257	2.874635	0.990450959259744	0.32159	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	3.928000	0.56220	3.868000	0.40172	0.549000	0.26987	0.994000	0.38300	0.999000	0.35428	0.339000	0.25409	0.1573:0.5751:0.1753:0.0922	3.823	0.08359	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	699.33	34	chr1	10660231	.	C	G	699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=808;ExcessHet=0;FS=2.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.394;SOR=1.044	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1269	18	0	1	0
chr1	10660386	10660386	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C656T:p.T219I,CASZ1:NM_017766:exon6:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0057169978378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.161	0.31326	T	0.013	0.38659	B	0.022	0.38314	B	0.019756	0.27189	N	0.389447	0.999952	0.19072	N	0.345	0.11182	N	.	.	.	-1.14	0.29323	N	0.197	0.28264	-1.0365	0.18388	T	0.053	0.22462	T	9	0.1131416	0.21245	T	0.005717	0.14832	T	0.067	0.19503	0.184	0.09259	0.143184338766	0.13958	0.10694064819102451	0.10624	.	.	0.395304083824	0.24414	T	0.207754	0.56748	T	-0.172049	0.24926	T	-0.484913	0.23926	T	0.663078725337982	0.39031	D	0.734027	0.34984	T	0.07985118	0.18265	0.11306392	0.27285	0.07985118	0.18265	0.11306392	0.27285	-5.516	0.42017	T	.	.	0.143	0.31381	B	.;.	.;.	2.929248	0.38908	20.8	0.99594760407931215	0.73807	0.94146	0.60251	D	AEFGBI	0.525655	0.54834	D	-0.0943499136012913	0.37639	2.192778	0.00843479827640944	0.40106	2.388235	0.998548257662609	0.37167	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.98	3.98	0.45383	5.798000	0.68751	6.399000	0.55573	0.618000	0.50648	0.966000	0.33990	1.000000	0.68203	0.462000	0.28163	0.098:0.0:0.902:0.0	9.955	0.40830	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1415.33	34	chr1	10660386	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=773;ExcessHet=0;FS=2.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.27;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1269	18	0	1	0
chr1	10948360	10948360	G	A	exonic	C1orf127	.	nonsynonymous SNV	C1orf127:NM_001366227:exon10:c.C1358T:p.A453V,C1orf127:NM_001170754:exon12:c.C1775T:p.A592V	.	422	1076	21	3	0	27	0.012391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00797290285848	0.0009	0.00119808	0.0026	0.0005	0.0020	0	0.0009	0.0017	0.0022	0.0098	0.0022768	352	154602	rs146525406	0.0017	0.0017	0.0014	0.0020	0.0187	0.0017	0.0016	0.0159	0.0148	0.0010	0.0023	0.0002	2.519e-05	0.0012	0.0187	0.0011	0.0030	0.0092	0.0014	0.0014	0.0011	0.0016	0.0066	0.0012	0.0012	0.0048	0.0042	0.0005	0	0.0016	0.0003	0	0.0008	0.0204	0.0015	0.0066	0.0066	0.271	0.15984	T	0.65	0.06738	T	.	.	.	.	.	.	0.300127	0.03949	N	1.523530	1	0.08975	N	.	.	.	1.72	0.26588	T	0.02	0.06739	N	0.036	0.01068	-1.0100	0.26917	T	0.024	0.10284	T	10	0.005122602	0.00111	T	0.007973	0.21136	T	0.045	0.12272	.	.	0.0297737177859	0.01360	0.036957242562973495	0.03642	0.0882746229365	0.09970	.	.	.	.	.	.	-0.579936	0.00193	T	-0.597852	0.12992	T	0.00233150370477055	0.00024	T	0.309069	0.05976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.	.	-1.604662	0.00238	0.004	0.82054685571354746	0.13995	0.01453	0.04865	N	AEFDBI	0.064654	0.12568	N	-1.32192794275409	0.03425	0.1529782	-1.47861773859036	0.02520	0.1160492	0.0398840086541109	0.14414	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.96	-6.15	0.01925	-1.845000	0.01770	-7.420000	0.01160	-1.677000	0.00791	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4208:0.3643:0.2148:0.0	6.529	0.21514	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.005051	0.017663	0.029240	0.000000	0.034483	0.018293	0.011364	0.02632	1800.33	35	chr1	10948360	.	G	A	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.271;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=0.433;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	10964214	10964214	G	A	exonic	C1orf127	.	nonsynonymous SNV	C1orf127:NM_001366227:exon3:c.C13T:p.R5W,C1orf127:NM_001170754:exon5:c.C430T:p.R144W	.	427	938	142	11	4	168	0.0803922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0246761125528	.	.	1.659e-05	0	0	0	0	3.012e-05	0	0	1.29e-05	2	154602	rs11121662	1.437e-05	1.436e-05	1.225e-05	1.65e-05	0.0009	9.23e-06	7.84e-06	0.0003	0.0002	0	0	0	2.519e-05	0	0.0009	6.295e-06	9.935e-05	2.319e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-2.88	0.60507	D	0.261	0.29544	-1.0441	0.16089	T	0.032	0.13635	T	6	0.19293201	0.35041	T	0.024676	0.47667	T	0.061	0.17616	0.456	0.52102	0.234412748748	0.23057	0.2408208274667579	0.23996	0.432079169993	0.43389	.	.	.	.	.	.	-0.295716	0.09069	T	-0.532101	0.19077	T	0.880039632320404	0.53003	D	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33504	B	.	.	3.349009	0.46180	22.3	0.99865324884152484	0.94366	0.72279	0.35384	D	AEFBI	0.521580	0.54596	D	-0.330805883549617	0.27984	1.539771	-0.314524434764195	0.27628	1.534491	0.999076417678965	0.38370	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.35	2.43	0.28797	1.664000	0.37055	1.252000	0.25176	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.250000	0.23263	0.0955:0.1651:0.7394:0.0	7.667	0.27603	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2385.33	34	chr1	10964214	.	G	A	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=835;ExcessHet=0;FS=0.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.11;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	11042883	11042883	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon6:c.C881T:p.T294M	MASP2 deficiency, Autosomal recessive	0	1472	50	0	0	50	0.0167001	.	.	.	731568	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|MASP2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0028	0.00459265	0.0063	0.0021	0.0007	0	0.0251	0.0047	0.0133	0.0147	0.005705	882	154602	rs139962539	0.0055	0.0055	0.0051	0.0059	0.0159	0.0054	0.0054	0.0152	0.0149	0.0017	0.0011	0.0008	2.519e-05	0.0248	0.0104	0.0044	0.0052	0.0159	0.0055	0.0056	0.0040	0.0072	0.0143	0.0052	0.0051	0.0116	0.0106	0.0020	0.0022	0.0018	0.0006	0.0004	0.0326	0	0.0044	0.0043	0.0143	0.037	0.43085	D	0.008	0.67890	D	0.037	0.20876	B	0.028	0.21332	B	0.661655	0.10422	N	0.807051	0.825838	0.28824	N	2.015	0.55033	M	1.93	0.22881	T	-3.03	0.62747	D	0.17	0.18103	-0.9860	0.33590	T	0.035	0.15247	T	10	0.005970478	0.00134	T	.	.	.	0.053	0.14996	.	.	0.124217242631	0.12060	0.5123346054005095	0.51155	0.0407694351807	0.04372	0.255066126585	0.04321	T	0.167891	0.51469	T	-0.611316	0.00124	T	-0.638566	0.09773	T	0.0146837639690297	0.00305	T	0.690331	0.29972	T	0.03418397	0.03786	0.09641339	0.22907	0.030420668	0.02701	0.09641339	0.22906	-11.434	0.81985	D	0.4720342199219044	0.55229	0.102	0.18037	B	.	.	2.248819	0.28726	17.89	0.97414839808571385	0.33845	0.15784	0.19080	N	AEFDBI	0.195519	0.32255	N	-0.793140772280534	0.13488	0.6648029	-0.872054223652638	0.12758	0.6581308	0.0132704450316949	0.12441	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-3.97	0.03821	0.362000	0.20020	-0.877000	0.07079	0.613000	0.49114	0.118000	0.23139	0.000000	0.08366	0.993000	0.69303	0.1689:0.2911:0.3291:0.2109	1.868	0.03007	804	0.43891	CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.006793	0.011696	0.050000	0.025862	0.012195	0.018939	0.02632	869.33	35	chr1	11042883	.	G	A	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.278;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.217;SOR=0.715	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y,MASP2:NM_139208:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	275880	not_specified|Immunodeficiency_due_to_MASP-2_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007634	0.05263	1092.83	34	chr1	11045485	.	C	T	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=733;ExcessHet=0.119;FS=0.693;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.21;SOR=0.786	GT:AD:DP:GQ:PL	0/1:42,30:72:99:655,0,1102	17	0	2	0
chr1	11059899	11059913	GGCGGCGGGGCCGGA	-	exonic	SRM	.	nonframeshift deletion	SRM:NM_003132:exon1:c.31_45del:p.S11_A15del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs745582057	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0.0002	0	0.0005	6.634e-05	0.0002	0.0024	0.0001	0.0001	0.0001	0.0002	0.0022	8.898e-05	7.446e-05	0.0012	0.0009	4.897e-05	0	0.0002	0	0.0002	0	0.0034	2.991e-05	0.0005	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	343.3	9	chr1	11059898	.	TGGCGGCGGGGCCGGA	T	343.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=1.36;SOR=1.022	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,447	18	0	1	0
chr1	11059918	11059918	G	C	exonic	SRM	.	nonsynonymous SNV	SRM:NM_003132:exon1:c.C26G:p.A9G	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.570774644216	.	.	0.0029	0	0	0	0	0.0070	0	0.0007	0.0003493	54	154602	rs771883659	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0	0.0004	0.0277	0	3.639e-05	0	0.0001	0.0024	0.0007	0.0008	0.0008	0.0009	0.0007	0.0008	0.0007	0.0006	0.0003	0.0002	2.427e-05	0	0	0.0273	0.0002	0	0.0034	0.0003	0.0005	0.0008	0.361	0.11882	T	0.211	0.26631	T	0.001	0.07471	B	0.0	0.01387	B	0.295964	0.14683	U	0.549745	1	0.08975	N	0.09	0.08384	N	-0.66	0.72348	T	-0.32	0.12283	N	0.216	0.24135	-1.0227	0.22834	T	0.104	0.38316	T	10	0.0053771436	0.00118	T	0.570775	0.96118	D	0.111	0.31313	0.148	0.05138	0.385882932397	0.38197	0.38256071449414875	0.38171	1.05964391427	0.76440	0.840971112251	0.88242	D	0.092927	0.39106	T	-0.149072	0.28458	T	-0.451908	0.27487	T	0.0109667043835689	0.00158	T	0.668433	0.27736	T	0.07706847	0.17469	0.058053963	0.10660	0.07706847	0.17469	0.058053963	0.10660	-3.255	0.13164	T	.	.	0.090	0.12702	B	.	.	1.464516	0.18873	13.97	0.72158324578202127	0.09876	0.00906	0.03544	N	AEFDGBHCI	0.023152	0.01251	N	-1.2379937409317	0.04460	0.2013432	-1.23890495374957	0.05297	0.2520629	0.999999999485191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.57	1.42	0.21524	0.133000	0.15736	1.604000	0.27599	-0.455000	0.05132	0.000000	0.06391	0.118000	0.22871	0.002000	0.04165	0.1992:0.0:0.8008:0.0	5.229	0.14734	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002809	0.000000	0.000000	0.003876	0.050000	0.000000	0.003472	0.008065	0.02632	215.48	2	chr1	11059918	.	G	C	215.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.702;DP=240;ExcessHet=0;FS=0;InbreedingCoeff=-0.0361;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.302;SOR=0.301	GT:AD:DP:GQ:PL	0/0:11,0:11:24:0,24,360	18	0	1	0
chr1	11095829	11095829	T	G	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon3:c.A301C:p.S101R,EXOSC10:NM_002685:exon3:c.A301C:p.S101R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00179712	0.0020	0	0.0003	0	0	0	0.0011	0.0142	0.0016623	257	154602	rs199948532	0.0009	0.0009	0.0005	0.0013	0.0147	0.0009	0.0008	0.0140	0.0138	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0007	0.0147	0.0004	0.0004	0.0002	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	2.404e-05	0	0	0	0	0	0	0	0	0.0112	0.076	0.34269	T	0.206	0.27679	T	0.004	0.12183	B	0.014	0.19048	B	0.000001	0.84330	N	0.153923	0.999967	0.52935	D	2.045	0.56016	M	.	.	.	-1.52	0.36980	N	0.232	0.26111	-0.8308	0.53250	T	0.212	0.57241	T	9	0.008128077	0.00184	T	.	.	.	0.129	0.35316	0.577	0.70217	0.635145041397	0.63215	0.3520493213455193	0.35118	0.256881069147	0.28255	0.439684092999	0.30533	T	0.193314	0.54874	T	-0.492822	0.00627	T	-0.468357	0.25692	T	0.046443481784813	0.04864	T	0.790321	0.43084	T	0.46265373	0.64836	0.37153926	0.62381	0.46265373	0.64837	0.37153926	0.62381	-7.113	0.54970	T	.	.	0.331	0.55257	B	.;.	.;.	3.861577	0.56000	23.7	0.95754747189214107	0.27734	0.98621	0.84797	D	AEFDBI	0.642075	0.61918	D	-0.238897501801315	0.31549	1.770149	-0.144944003147333	0.33604	1.923902	0.999999307079409	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	5.676000	0.67802	7.901000	0.73554	0.556000	0.28261	1.000000	0.71638	0.994000	0.32194	0.966000	0.53164	0.0:0.0:0.0:1.0	14.777	0.69364	466	0.78352	.;Exosome-associated factor Rrp6, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2974.33	39	chr1	11095829	.	T	G	2974.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.842;DP=920;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.617;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1441	18	0	1	0
chr1	11650721	11650721	-	TG	exonic	FBXO2	.	frameshift insertion	FBXO2:NM_012168:exon2:c.135_136insCA:p.Y46Hfs*72	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs765227103	8.77e-06	9.591e-06	0	1.777e-05	9.015e-05	4.68e-06	3.69e-06	4.138e-05	2.901e-05	3.466e-05	0	0	0	0	0	3.732e-06	0	9.015e-05	3.089e-05	2.747e-05	6.052e-05	0	7.52e-05	1.022e-05	5.86e-06	.	.	3.975e-05	0	7.52e-05	0	0	0	0	1.534e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	351.29	37	chr1	11650721	.	A	ATG	351.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=649;ExcessHet=0;FS=4.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.611;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,980:.	18	0	1	0
chr1	11650722	11650722	-	G	exonic	FBXO2	.	frameshift insertion	FBXO2:NM_012168:exon2:c.134dupC:p.Y46Vfs*81	.	338	830	287	59	8	413	0.196126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.513e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs148874459	9.458e-06	1.026e-05	1.437e-06	1.769e-05	8.911e-05	5.28e-06	4.07e-06	4.095e-05	2.873e-05	3.405e-05	0	0	0	0	0	3.718e-06	1.743e-05	8.911e-05	2.634e-05	2.626e-05	5.151e-05	0	6.545e-05	8.15e-06	5.15e-06	.	.	2.417e-05	0	6.545e-05	0	0	0	0	1.473e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2785.63	19	chr1	11650722	.	C	CG	2785.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=673;ExcessHet=2.0135;FS=9.653;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.333;SOR=1.367	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,980:.	18	0	1	0
chr1	11655947	11655947	C	T	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.C112T:p.R38W,FBXO44:NM_001330355:exon2:c.C112T:p.R38W,FBXO44:NM_033182:exon2:c.C112T:p.R38W,FBXO44:NM_183412:exon2:c.C112T:p.R38W,FBXO44:NM_183413:exon2:c.C112T:p.R38W,FBXO44:NM_001014765:exon3:c.C112T:p.R38W,FBXO44:NM_001304790:exon3:c.C112T:p.R38W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.176488023846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.109437	0.986018	0.40368	D	3.365	0.91266	M	0.61	0.53516	T	-7.18	0.94171	D	0.722	0.74280	-0.1611	0.78644	T	0.350	0.71383	T	10	0.7325462	0.74398	D	0.176488	0.85224	D	0.448	0.74935	0.623	0.75803	0.681924071509	0.67921	0.6210451620248962	0.62037	1.08787694671	0.77347	0.700523674488	0.67218	T	0.294809	0.66748	T	0.132851	0.67639	D	-0.0469458	0.67232	D	0.998124182224274	0.93295	D	0.974702	0.91007	D	0.74224025	0.80421	0.7210193	0.83527	0.74224025	0.80422	0.7210193	0.83528	-11.31	0.81331	D	.	.	0.362	0.72737	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.866366	0.79681	27.2	0.99912524998828878	0.98167	0.88247	0.48090	D	AEFDGBI	0.546597	0.56063	D	0.528205082865934	0.68764	5.262382	0.431742713453166	0.63554	4.591347	0.999996735078686	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.635551	0.53088	0	.	.	5.45	3.48	0.38946	0.050000	0.14004	0.290000	0.16862	0.580000	0.29708	0.896000	0.31333	0.977000	0.30130	0.998000	0.85391	0.4879:0.5121:0.0:0.0	13.863	0.63071	878	0.29785	F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2035.33	37	chr1	11655947	.	C	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=791;ExcessHet=0;FS=2.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.41;MQRankSum=0.941;QD=13.13;ReadPosRankSum=-0.301;SOR=0.542	GT:AD:DP:GQ:PL	0/1:80,75:155:99:2049,0,1949	18	0	1	0
chr1	11676902	11676902	C	A	exonic	MAD2L2	.	nonsynonymous SNV	MAD2L2:NM_001127325:exon5:c.G278T:p.R93L,MAD2L2:NM_006341:exon5:c.G278T:p.R93L	.	.	.	.	.	.	.	.	.	.	.	2999532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00384665949945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.573	0.09144	T	0.002	0.09854	B	0.003	0.08700	B	0.000004	0.62929	D	0.140503	0.998546	0.81001	D	0.79	0.19579	N	.	.	.	-0.59	0.24676	N	0.399	0.44090	-0.9698	0.37242	T	0.115	0.40717	T	9	0.22715846	0.39589	T	0.003847	0.09024	T	0.095	0.27398	0.31	0.28289	0.638093873822	0.63511	0.7011699154786235	0.70057	0.937084714361	0.72070	0.368292152882	0.20587	T	0.096974	0.39933	T	-0.014345	0.49655	T	-0.258382	0.48985	T	0.642212927341461	0.38131	D	0.937106	0.79398	D	0.22658394	0.45343	0.11012133	0.26549	0.22658394	0.45343	0.11012133	0.26549	-5.369	0.40621	T	0.1931812831204999	0.25411	0.113	0.33913	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.909052	0.56999	23.8	0.97384412691796762	0.33691	0.77943	0.38385	D	AEFDBHCI	0.787620	0.71734	D	-0.0508408262789418	0.39565	2.335229	0.142144834571678	0.46729	2.914048	0.999999886034038	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	4.54	0.55220	3.840000	0.55547	4.756000	0.44687	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7132:0.0:0.2868	4.419	0.10899	880	0.29376	HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2674.33	33	chr1	11676902	.	C	A	2674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=996;ExcessHet=0;FS=4.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.875;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	18	0	1	0
chr1	11711942	11711942	G	A	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon4:c.G734A:p.G245D	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00869014086054	0.0023	0.00239617	0.0030	0.0005	0.0040	0	0	0.0039	0.0025	0.0034	0.0026326	407	154602	rs143337024	0.0026	0.0026	0.0025	0.0026	0.0189	0.0025	0.0025	0.0160	0.0149	0.0007	0.0038	0.0059	0	9.365e-05	0.0189	0.0025	0.0038	0.0035	0.0025	0.0025	0.0023	0.0028	0.0084	0.0023	0.0022	0.0073	0.0068	0.0004	0.0022	0.0084	0.0063	0	0.0002	0.0068	0.0027	0.0062	0.0029	0.667	0.04602	T	0.659	0.06533	T	0.175	0.28858	B	0.058	0.26451	B	0.171464	0.17362	N	0.571130	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.13	0.08971	N	0.1	0.08227	-1.0106	0.26729	T	0.027	0.11618	T	10	0.0050876737	0.00110	T	0.00869	0.22952	T	0.013	0.01715	.	.	0.158396225186	0.15383	0.20699269443867516	0.20615	0.335625430574	0.35560	0.271372318268	0.06320	T	0.038483	0.24856	T	-0.597618	0.00151	T	-0.627208	0.10627	T	0.00131839134968863	0.00013	T	0.772323	0.40326	T	0.022511011	0.00919	0.03660499	0.03140	0.022511011	0.00919	0.03660499	0.03139	-4.245	0.27398	T	.	.	0.14	0.30686	B	.	.	2.128777	0.27101	17.35	0.88116028305620708	0.17728	0.45031	0.27448	N	AEFBI	0.062487	0.12014	N	-0.890550320041349	0.11066	0.5320832	-0.740347626990683	0.15959	0.8419655	0.829381201005123	0.24665	0.732398	0.92422	0	0.851559	0.99867	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.7	2.19	0.26890	0.831000	0.27129	1.939000	0.29818	-0.140000	0.12423	0.989000	0.36753	1.000000	0.68203	0.516000	0.29383	0.0:0.2138:0.1347:0.6515	5.986	0.18662	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.030303	0.009511	0.020468	0.000000	0.034483	0.015244	0.011364	0.02632	2338.33	63	chr1	11711942	.	G	A	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=869;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.012;SOR=0.629	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1387	18	0	1	0
chr1	11715121	11715121	A	T	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon6:c.A850T:p.T284S	.	410	1101	11	0	0	11	0.00497063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00467839414571	0.0037	0.00159744	0.0039	0.0008	0.0016	0	0.0095	0.0056	0.0033	0.0004	0.0036998	572	154602	rs142338730	0.0044	0.0044	0.0044	0.0045	0.0087	0.0043	0.0043	0.0068	0.0061	0.0007	0.0018	0.0101	0	0.0095	0.0087	0.0047	0.0039	0.0003	0.0036	0.0036	0.0036	0.0035	0.0055	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0016	0.0084	0	0.0072	0.0170	0.0055	0.0033	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.003595	0.34740	N	0.282652	0.979825	0.25155	N	0.93	0.23535	L	1.33	0.35031	T	0.3	0.04091	N	0.301	0.34012	-1.0041	0.28725	T	0.030	0.12892	T	10	0.008778155	0.00199	T	0.004678	0.11628	T	0.039	0.10176	0.097	0.01334	0.275641507738	0.27180	0.2882132366467168	0.28734	0.211663198389	0.23664	0.288618385792	0.08721	T	0.050109	0.28500	T	-0.59514	0.00156	T	-0.621115	0.11098	T	0.0101413217071886	0.00137	T	0.632437	0.24680	T	0.035670202	0.04242	0.037215453	0.03327	0.035670202	0.04242	0.037215453	0.03327	0.077	0.00323	T	.	.	0.080	0.07650	B	.	.	1.367489	0.17770	13.36	0.35202599786132721	0.02196	0.61654	0.31548	D	AEFBI	0.208744	0.33479	N	-0.630248775718301	0.18039	0.933401	-0.48821328290639	0.22477	1.221056	0.880888003038989	0.25620	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.92	0.893	0.18369	2.600000	0.45904	2.997000	0.35905	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.347:0.0:0.1012:0.5518	4.876	0.13016	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.005435	0.020468	0.000000	0.000000	0.003049	0.011364	0.02632	2216.33	36	chr1	11715121	.	A	T	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.363;DP=798;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.343;SOR=0.596	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1530	18	0	1	0
chr1	11765872	11765872	G	A	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon3:c.G86A:p.R29Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.161185483756	.	0.000399361	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs574154402	0.0001	0.0001	8.119e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0	3.2e-05	0.0002	0.0017	4.596e-05	4.593e-05	0	9.4e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.221	0.18889	T	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.205	0.09354	N	-4.91	0.98352	D	-1.23	0.31170	N	0.042	0.01498	0.158	0.85194	D	0.766	0.92030	D	6	0.009609789	0.00216	T	0.161185	0.84103	D	0.234	0.53644	0.248	0.18447	0.313818047136	0.31001	0.023228044502364802	0.02274	0.385000908004	0.39793	.	.	.	0.002138	0.01537	T	-0.393088	0.02569	T	-0.343278	0.39973	T	0.0320479181761785	0.02315	T	0.347765	0.07665	T	0.019990686	0.00543	0.047087993	0.06705	0.019990686	0.00542	0.047087993	0.06704	-3.504	0.16487	T	.	.	0.166	0.36614	B	.	.	-1.041646	0.00714	0.021	0.69403313690913215	0.08961	0.00648	0.02824	N	AEFDBI	0.028633	0.02560	N	-1.77577020062326	0.00607	0.02616617	-2.00805317025905	0.00295	0.01300601	0.999999863713606	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.76	-7.52	0.01198	-2.943000	0.00747	-5.388000	0.01737	-4.986000	0.00016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2904:0.2112:0.3847:0.1137	2.289	0.03880	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1288.83	39	chr1	11765872	.	G	A	1288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.18;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.842;SOR=0.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1189	17	0	2	0
chr1	11772138	11772138	C	T	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon8:c.C1867T:p.R623W	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0234568591955	.	0.000199681	6.46e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs577901515	1.302e-05	1.094e-05	1.363e-05	1.239e-05	0.0002	7.82e-06	6.2e-06	4.794e-05	2.817e-05	0	0.0001	0	0	0	0.0002	7.601e-06	7.204e-05	0	6.566e-06	6.561e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.31	0.06291	T	-1.62	0.38924	N	0.126	0.11912	-0.9530	0.40450	T	0.012	0.04700	T	7	0.05526045	0.06012	T	0.023457	0.46421	T	0.055	0.15663	0.351	0.34922	0.115124310173	0.11017	0.1464391285986846	0.14565	0.347619180383	0.36649	.	.	.	0.04853	0.28044	T	-0.368864	0.03651	T	-0.573975	0.15087	T	0.0920390349003089	0.11457	T	0.537046	0.18049	T	0.0743427	0.16675	0.062403396	0.12205	0.0743427	0.16675	0.062403396	0.12205	-3.348	0.14364	T	.	.	0.124	0.26232	B	.	.	2.237443	0.28571	17.84	0.98616744270256262	0.43718	0.02056	0.06139	N	AEFDGBHCI	0.032667	0.03732	N	-0.984884023546027	0.08926	0.4204276	-1.14263621282406	0.06901	0.3337767	0.95604614203383	0.28224	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	-2.02	0.06981	-0.060000	0.11669	-0.011000	0.13060	-1.416000	0.01129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4081:0.2293:0.3626:0.0	4.375	0.10700	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1866.33	97	chr1	11772138	.	C	T	1866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.746;DP=1142;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.97;SOR=0.766	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr1	11782285	11782285	C	G	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon14:c.C2957G:p.A986G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0126158872061	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455982432	1.22e-05	9.577e-06	8.546e-06	1.599e-05	2.647e-05	7.08e-06	5.54e-06	5.5e-06	4.01e-06	0	0	0	0	0	0	1.088e-05	4.83e-05	2.647e-05	1.975e-05	1.972e-05	1.287e-05	2.694e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.915	0.65091	D	0.090789	0.20358	N	0.258405	1	0.08975	N	1.7	0.43825	L	3.06	0.08634	T	-1.96	0.45404	N	0.089	0.06720	-1.0193	0.23943	T	0.059	0.24871	T	10	0.12064573	0.22856	T	0.012616	0.31353	T	0.052	0.14661	0.418	0.45873	0.0482279557977	0.04254	0.021418957475954466	0.02094	0.723819464558	0.62352	.	.	.	0.007233	0.06645	T	-0.327171	0.06328	T	-0.590284	0.13642	T	0.352602243423462	0.27121	T	0.451655	0.12799	T	0.031690277	0.03054	0.042341486	0.05020	0.031690277	0.03053	0.042341486	0.05020	-7.43	0.57116	T	.	.	0.190	0.40905	B	.	.	1.712977	0.21810	15.36	0.97974730928431453	0.37283	0.03170	0.08145	N	AEFDBI	0.040158	0.05933	N	-0.82945833699173	0.12561	0.6130565	-0.955716289988347	0.10791	0.5457697	0.967971436584264	0.29018	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	3.6	1.69	0.23290	0.092000	0.14905	0.254000	0.16463	-0.260000	0.06918	0.003000	0.16062	0.005000	0.19230	0.001000	0.02609	0.0:0.7431:0.0:0.2569	5.718	0.17238	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1581.81	33	chr1	11782285	.	C	G	1581.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.85;SOR=0.981	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	18	1	0	0
chr1	11926174	11926174	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon1:c.C64T:p.L22F	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	.	.	0.00519169	0.0019	0.0106	0.0106	0	0	0.0060	0	0.0002	0.0007633	118	154602	rs552116013	0.0016	0.0016	0.0017	0.0015	0.0225	0.0016	0.0015	0.0209	0.0203	0.0225	0.0059	0.0082	0	0	0.0081	0.0009	0.0044	5.712e-05	0.0077	0.0076	0.0075	0.0079	0.0207	0.0073	0.0072	0.0195	0.0191	0.0207	0	0.0109	0.0073	0	0	0.0274	0.0012	0.0116	0	0.168	0.25873	T	0.032	0.54159	D	0.954	0.62824	P	0.812	0.61127	P	0.013323	0.28875	U	0.221922	0.835158	0.28707	N	1.1	0.28011	L	.	.	.	-1.27	0.31981	N	0.267	0.30233	-1.0711	0.09173	T	0.080	0.31795	T	9	0.010978609	0.00242	T	.	.	.	0.185	0.45933	.	.	0.0986583533028	0.09354	0.6570483473202517	0.65641	.	.	0.883800983429	0.94467	D	0.014329	0.12216	T	-0.387318	0.02800	T	-0.311547	0.43493	T	0.012001472375234	0.00189	T	0.834817	0.50404	T	0.078720696	0.17943	0.09588927	0.22761	0.078720696	0.17942	0.09588927	0.22760	-6.427	0.49976	T	.	.	0.216	0.48998	B	.;.;.	.;.;.	4.525571	0.71002	25.6	0.9973177433673841	0.82833	0.48785	0.28285	N	AEFDBCI	0.087111	0.17662	N	0.0940217877704556	0.46185	2.862727	0.0518959859818533	0.42164	2.545533	0.999999286979526	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.55	1.47	0.21832	0.523000	0.22632	8.296000	0.76925	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.4455:0.5544:0.0	7.584	0.27150	774	0.48577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013366	0.042683	0.015723	0.008130	0.000000	0.011905	0.000000	0.000000	0.02632	232.33	31	chr1	11926174	.	G	A	232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=533;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-2.511;SOR=0.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,998	18	0	1	0
chr1	11952665	11952665	A	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon5:c.A509T:p.E170V,PLOD1:NM_001316320:exon6:c.A650T:p.E217V	Ehlers-Danlos syndrome, type VI, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	498024	not_provided|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MedGen:C3661900|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	.	0.00599042	0.0033	0	8.645e-05	0	0	0	0.0022	0.0242	0.0029042	449	154602	rs554232128	0.0014	0.0014	0.0008	0.0020	0.0221	0.0014	0.0014	0.0213	0.0210	2.987e-05	0	0.0001	0	1.872e-05	0.0005	5.935e-05	0.0017	0.0221	0.0009	0.0009	0.0004	0.0014	0.0274	0.0008	0.0007	0.0236	0.0221	0	0	0.0001	0.0003	0.0002	0	0	2.941e-05	0	0.0274	0.027	0.49117	D	0.006	0.70582	D	0.215	0.30128	B	0.138	0.33406	B	0.009788	0.30200	N	0.353701	0.997421	0.43877	D	1.845	0.48678	L	2.41	0.20664	T	-3.86	0.73477	D	0.522	0.55193	-1.1084	0.03210	T	0.043	0.18493	T	10	0.00757882	0.00172	T	.	.	.	0.078	0.22779	0.294	0.25720	0.302793454619	0.29890	0.7149905807501374	0.71442	0.269075790614	0.29422	0.366970956326	0.20396	T	0.159804	0.81468	T	-0.440752	0.01280	T	-0.388301	0.34751	T	0.0717922718578291	0.08900	T	0.825517	0.48813	T	0.13414034	0.31177	0.18524705	0.41626	0.1423086	0.32754	0.1355079	0.32441	-9.871	0.73136	D	0.22439127077606708	0.30303	0.228	0.46013	B	.;.;.	.;.;.	3.999307	0.58918	24.0	0.98901941904488877	0.48199	0.87829	0.47504	D	AEFGBCI	0.772957	0.70712	D	0.0787784876109116	0.45473	2.803299	0.165413600809076	0.47964	3.018943	0.999940010306035	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.61	3.46	0.38718	4.385000	0.59379	6.814000	0.56655	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9027:0.0:0.0973:0.0	9.476	0.38034	787	0.46738	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2081.33	43	chr1	11952665	.	A	T	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=768;ExcessHet=0;FS=5.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.037;SOR=1.187	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr1	11964664	11964664	A	G	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon13:c.A1349G:p.Y450C,PLOD1:NM_001316320:exon14:c.A1490G:p.Y497C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626711	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.921	0.281552465126	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264798278	3.422e-06	3.42e-06	2.724e-06	4.127e-06	1.159e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000042	0.53742	D	0.127237	1	0.81001	D	3.095	0.87515	M	-1.88	0.84487	D	-8.26	0.96915	D	0.915	0.91736	0.705	0.93241	D	0.765	0.92012	D	10	0.96292174	0.95726	D	0.281552	0.90249	D	0.921	0.98003	.	.	0.987803124259	0.98767	0.938545271435765	0.93835	0.808570310498	0.66628	0.830451011658	0.86631	D	0.536703	0.84064	D	0.433814	0.91722	D	0.385368	0.91619	D	0.998193323612213	0.93480	D	0.996219	0.98659	D	0.74050736	0.80321	0.67025846	0.80653	0.74050736	0.80323	0.67025846	0.80654	-14.973	0.95789	D	0.780848889709554	0.86075	0.725	0.74013	P	.	.	5.220873	0.87624	29.3	0.99685969010419584	0.79574	0.99479	0.96535	D	AEDBI	0.968245	0.99072	D	0.855003610176622	0.89391	9.952562	0.798821908690314	0.89711	10.08914	0.999999989805542	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	9.325000	0.96006	11.120000	0.86527	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.920	0.63431	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1958.33	138	chr1	11964664	.	A	G	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=766;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.487;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	18	0	1	0
chr1	12104505	12104505	C	T	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001281430:exon3:c.C62T:p.P21L,TNFRSF8:NM_001243:exon4:c.C395T:p.P132L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0651044994727	7.7e-05	.	3.311e-05	0	8.691e-05	0	0	4.507e-05	0	0	6.47e-05	10	154602	rs370304432	8.14e-05	8.14e-05	8.712e-05	7.563e-05	0.0002	6.935e-05	6.486e-05	8.388e-05	7.805e-05	2.987e-05	2.236e-05	0	0	0	0.0002	9.892e-05	8.279e-05	1.159e-05	9.856e-05	9.85e-05	0.0001	6.725e-05	0.0001	6.006e-05	4.88e-05	5.841e-05	4.239e-05	9.651e-05	0	6.546e-05	0	0	0	0	0.0001	0.0010	0	0.007	0.59928	D	0.017	0.60337	D	0.266	0.31648	B	0.03	0.21741	B	0.206769	0.03358	N	1.555060	1	0.08975	N	2.25	0.63811	M	-3.58	0.94940	D	-3.88	0.73378	D	0.262	0.29659	-0.1624	0.78612	T	0.735	0.90948	D	10	0.10948071	0.20424	T	0.065104	0.69478	D	0.115	0.32236	.	.	0.320526991862	0.31653	0.7531762409003414	0.75264	0.461249004309	0.45672	0.279683172703	0.07448	T	0.815136	0.95421	D	-0.0359672	0.46544	T	-0.107913	0.62777	T	0.167984976270852	0.18442	T	0.777622	0.41691	T	0.024067784	0.01203	0.03288521	0.02094	0.024067784	0.01203	0.03288521	0.02094	-7.003	0.61370	T	.	.	0.180	0.39134	B	.;.	.;.	2.665274	0.34729	19.71	0.99252209932937929	0.56924	0.14072	0.18207	N	AEFGBI	0.058128	0.10882	N	-0.590150507261473	0.19242	1.005572	-0.64402046560855	0.18368	0.9809016	0.0717890782194622	0.15579	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.89	2.86	0.32427	0.998000	0.29345	1.653000	0.27856	0.598000	0.34611	0.001000	0.13787	0.002000	0.18203	0.168000	0.20914	0.1985:0.7003:0.0:0.1013	5.405	0.15618	819	0.41190	.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2122.33	35	chr1	12104505	.	C	T	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.23;SOR=0.677	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	18	0	1	0
chr1	12192991	12192991	C	T	exonic	TNFRSF1B	.	nonsynonymous SNV	TNFRSF1B:NM_001066:exon6:c.C680T:p.T227M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0256058926173	.	.	3.307e-05	0	0	0	0	6.007e-05	0	0	3.23e-05	5	154602	rs764190618	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0001	1.584e-05	1.356e-05	5.849e-05	3.758e-05	0.0001	0	0	0	1.872e-05	0	2.068e-05	4.967e-05	0	3.942e-05	3.94e-05	3.853e-05	4.035e-05	6.541e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	6.541e-05	0	0	0	0	5.88e-05	0	0	0.385	0.11015	T	0.185	0.28958	T	0.007	0.14184	B	0.0	0.01387	B	0.000040	0.00387	N	5.249020	1	0.08975	N	-1.67	0.00374	N	-2.11	0.86216	D	0.09	0.05917	N	0.062	0.03392	-0.6551	0.62491	T	0.216	0.57732	T	10	0.030221999	0.01149	T	0.025606	0.48570	D	0.282	0.59981	0.185	0.09388	0.2338531098	0.23012	0.2809664638679867	0.28009	0.357000777415	0.37432	0.211919412017	0.00896	T	0.097117	0.39961	T	-0.335232	0.05725	T	-0.539018	0.18393	T	0.0488264708659486	0.05292	T	0.492351	0.15167	T	0.008694259	0.00001	0.022702528	0.00290	0.008694259	0.00001	0.022702528	0.00290	-5.465	0.41540	T	.	.	0.076	0.06024	B	.	.	-1.859412	0.00138	0.002	0.44531729340392762	0.03430	0.00359	0.01841	N	AEFDBCI	0.047834	0.08098	N	-2.47988201973897	0.00018	0.0007669688	-2.52320169565956	0.00020	0.0009036462	0.999999999982318	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	3.98	-7.96	0.01011	-5.099000	0.00178	-7.316000	0.01183	-3.547000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0878:0.125:0.1876:0.5996	4.907	0.13158	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1880.33	42	chr1	12192991	.	C	T	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=859;ExcessHet=0;FS=3.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.457;SOR=0.588	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1412	18	0	1	0
chr1	12276474	12276474	C	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.C2886G:p.N962K,VPS13D:NM_018156:exon19:c.C2886G:p.N962K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.00377998706888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	0.988	0.65571	D	0.76	0.62418	P	0.000003	0.62929	D	0.099394	0.988204	0.40722	D	2.08	0.57402	M	.	.	.	.	.	.	0.58	0.61511	-0.8821	0.49593	T	0.192	0.54404	T	10	0.46249995	0.59370	T	0.00378	0.08806	T	.	.	0.539	0.65018	0.082315109003	0.07666	0.5253306198152572	0.52457	.	.	0.821717500687	0.85291	D	0.556763	0.85090	D	-0.0622428	0.42556	T	-0.327184	0.41782	T	0.873305976390839	0.52317	D	0.922308	0.72522	D	0.45681882	0.64473	0.36865684	0.62151	0.45681882	0.64473	0.36865684	0.62151	-9.42	0.70360	D	0.7654145461074551	0.84686	0.527	0.65793	A	.;.	.;.	3.606357	0.50966	23.0	0.99774521274026717	0.86174	0.95185	0.63751	D	ALL	0.453198	0.50643	N	0.352578702669321	0.58876	4.062619	0.36974556561838	0.59705	4.15074	0.999995928227925	0.74766	0.658043	0.49183	0	0.653731	0.59785	0	0.659943	0.59835	0	0.674467	0.66132	0	.	.	6.06	3.89	0.44098	1.956000	0.40007	1.785000	0.28750	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8581:0.0:0.1419	13.985	0.63840	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2123.33	33	chr1	12276474	.	C	G	2123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.474;DP=786;ExcessHet=0;FS=5.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.479;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr1	12276766	12276766	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.G3178A:p.D1060N,VPS13D:NM_018156:exon19:c.G3178A:p.D1060N	.	431	1082	9	0	0	9	0.00414174	.	.	.	1609671	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.065	.	7.7e-05	0.00259585	0.0019	0	0.0005	0	0	0.0008	0.0022	0.0101	0.0016041	248	154602	rs200303790	0.0010	0.0010	0.0007	0.0014	0.0091	0.0010	0.0010	0.0086	0.0084	0.0001	0.0007	0.0035	0	5.616e-05	0.0073	0.0004	0.0008	0.0091	0.0007	0.0007	0.0005	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	2.407e-05	0	0.0010	0.0035	0	0	0.0034	0.0005	0.0009	0.0087	.	.	.	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.117170	0.02692	N	1.681260	1	0.08975	N	0.14	0.08730	N	.	.	.	.	.	.	0.023	0.00407	-1.0138	0.25720	T	0.075	0.30335	T	10	0.0038315356	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.1257722073147714	0.12503	.	.	0.309342801571	0.11807	T	0.080212	0.36311	T	-0.701473	0.00036	T	-0.773002	0.02670	T	0.00759358164671703	0.00088	T	0.688231	0.29741	T	0.032184318	0.03196	0.030538442	0.01521	0.025688818	0.01535	0.02853045	0.01097	-2.935	0.09497	T	0.10979882339767676	0.09207	0.067	0.02370	B	.;.	.;.	0.135025	0.05298	1.793	0.58766805999173111	0.06068	0.33134	0.24754	N	AEFBCI	0.057733	0.10780	N	-1.21862925449252	0.04730	0.2140924	-1.16117983979543	0.06569	0.3166405	0.115157513315128	0.16749	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.14	2.1	0.26226	1.264000	0.32618	1.460000	0.26674	-0.196000	0.09079	0.225000	0.24590	0.777000	0.26748	0.100000	0.18284	0.2252:0.1217:0.653:0.0	8.786	0.33977	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2273.33	33	chr1	12276766	.	G	A	2273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=799;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.11;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr1	12283436	12283436	T	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon21:c.T5334A:p.S1778R,VPS13D:NM_018156:exon21:c.T5334A:p.S1778R	.	429	1061	31	1	0	33	0.0153132	.	.	.	1000131	Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome|not_provided|VPS13D-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00459697818591	0.0015	0.00119808	0.0019	0.0002	0.0004	0	0	0.0022	0.0011	0.0049	0.0019275	298	154602	rs144311414	0.0028	0.0028	0.0028	0.0029	0.0080	0.0028	0.0027	0.0061	0.0055	0.0006	0.0008	0.0010	0	3.744e-05	0.0080	0.0031	0.0022	0.0051	0.0015	0.0015	0.0016	0.0014	0.0062	0.0013	0.0013	0.0045	0.0039	0.0003	0	0.0012	0.0003	0	0	0.0034	0.0024	0	0.0062	.	.	.	0.028	0.54934	D	0.454	0.39027	P	0.079	0.34953	B	0.007065	0.31620	N	0.393442	0.789807	0.29239	N	2.015	0.55033	M	.	.	.	.	.	.	0.428	0.46742	-0.8954	0.48446	T	0.175	0.51816	T	10	0.005638957	0.00125	T	0.004597	0.11377	T	.	.	0.243	0.17677	0.043077524339	0.03247	0.5601176299730201	0.55938	.	.	0.49046677351	0.37504	T	0.099394	0.40416	T	-0.28773	0.09866	T	-0.185128	0.56046	T	0.0150723485041195	0.00326	T	0.892211	0.62852	D	0.08695029	0.20229	0.1291099	0.31051	0.094862394	0.22313	0.11825835	0.28545	-4.533	0.31318	T	0.3851731255117534	0.47907	0.281	0.51394	B	.;.	.;.	2.785098	0.36596	20.3	0.97657268752060011	0.35172	0.97738	0.76776	D	AEFBI	0.286125	0.39858	N	0.123605185959519	0.47566	2.980508	0.203207517300671	0.50025	3.19895	0.979737276432473	0.30060	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.92	4.8	0.61157	1.623000	0.36618	2.363000	0.32383	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.14:0.1392:0.7208	5.967	0.18565	540	0.73006	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.007576	0.05263	3918.83	35	chr1	12283436	.	T	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=960;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.807;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	17	0	2	0
chr1	12363180	12363180	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_018156:exon51:c.G10306A:p.V3436I,VPS13D:NM_015378:exon52:c.G10381A:p.V3461I	.	434	1086	2	0	0	2	0.000919963	.	.	.	1931040	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00424919119436	.	0.00139776	0.0004	0	0.0002	0	0	2.997e-05	0.0055	0.0024	0.0003622	56	154602	rs535010889	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	0	0	0.0005	9.892e-06	0.0003	0.0027	0.0002	0.0002	7.709e-05	0.0002	0.0044	0.0001	9.234e-05	0.0029	0.0025	2.406e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0044	.	.	.	0.189	0.28860	T	0.03	0.20002	B	0.015	0.17295	B	0.078755	0.21025	N	0.551716	0.992996	0.23790	N	0.895	0.22405	L	.	.	.	.	.	.	0.229	0.25745	-1.0840	0.06591	T	0.047	0.20037	T	10	0.0063723624	0.00144	T	0.004249	0.10278	T	.	.	.	.	0.043077524339	0.03247	0.1618884665741051	0.16109	.	.	0.423670649529	0.28342	T	0.098376	0.40213	T	-0.542774	0.00322	T	-0.557671	0.16595	T	0.0198916656737895	0.00690	T	0.819918	0.47811	T	0.015818689	0.00159	0.026552517	0.00751	0.015818689	0.00159	0.026552517	0.00751	-2.58	0.06352	T	0.2136695256181633	0.28695	0.069	0.03128	B	.;.	.;.	1.759436	0.22383	15.60	0.93623820283465697	0.23493	0.79581	0.39462	D	AEFBI	0.066238	0.12960	N	-0.542716436094394	0.20713	1.093917	-0.40216717585535	0.24933	1.368219	0.784747783436277	0.23909	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	2.17	0.26736	1.149000	0.31238	1.540000	0.27221	-0.119000	0.14319	0.867000	0.30739	0.910000	0.28117	0.888000	0.42677	0.2571:0.0:0.5168:0.2262	4.798	0.12649	165	0.93588	Vacuolar protein sorting-associated protein 13, SHR-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1938.33	34	chr1	12363180	.	G	A	1938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=812;ExcessHet=0;FS=2.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.65;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1351	18	0	1	0
chr1	12617183	12617183	G	A	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C166T:p.R56C	.	406	1113	3	0	0	3	0.0013459	.	.	.	3202112	DHRS3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.648	0.432412456184	0.0025	0.000199681	0.0024	0.0007	0.0013	0	0.0002	0.0038	0.0035	0.0010	0.002141	331	154602	rs148358973	0.0028	0.0028	0.0028	0.0028	0.0032	0.0027	0.0027	0.0031	0.0030	0.0003	0.0016	0.0065	0	0.0005	0.0029	0.0032	0.0026	0.0010	0.0022	0.0022	0.0023	0.0020	0.0036	0.0020	0.0019	0.0032	0.0031	0.0003	0	0.0016	0.0075	0.0002	0.0007	0	0.0036	0.0043	0.0006	.	.	.	0.041	0.50514	D	0.895	0.49247	P	0.448	0.46037	P	0.000002	0.62929	D	0.098899	0.999917	0.51042	D	2.61	0.76335	M	.	.	.	.	.	.	0.491	0.52475	0.711	0.93310	D	0.806	0.93432	D	10	0.016029507	0.00337	T	0.432412	0.94007	D	.	.	.	.	0.642720413867	0.63976	0.6270243248523132	0.62635	.	.	0.696694374084	0.66667	T	0.573129	0.85899	D	-0.254928	0.13501	T	-0.140752	0.60053	T	0.0448356593784612	0.04572	T	0.96937	0.88985	D	0.22886197	0.45613	0.09869273	0.23539	0.22886197	0.45613	0.09869273	0.23538	-6.268	0.48469	T	.	.	0.223	0.45446	B	.	.	3.963210	0.58142	23.9	0.9972563379866346	0.82406	0.82313	0.41559	D	ALL	0.550964	0.56323	D	0.418375672752341	0.62433	4.45908	0.414760370109962	0.62484	4.464505	0.999999999957088	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.92	4.92	0.64147	1.087000	0.30476	8.060000	0.76395	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7054:0.2946	11.925	0.52098	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	688.33	39	chr1	12617183	.	G	A	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.895;SOR=0.66	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1378	18	0	1	0
chr1	12725328	12725328	C	T	exonic	AADACL3	.	nonsynonymous SNV	AADACL3:NM_001103170:exon4:c.C556T:p.R186W	.	436	1047	39	0	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0061	0.013778	0.0105	0.0018	0.0050	0.0476	0.0053	0.0082	0.0111	0.0114	0.0100775	1558	154602	rs17038445	0.0098	0.0098	0.0094	0.0102	0.0579	0.0097	0.0096	0.0559	0.0551	0.0013	0.0051	0.0164	0.0579	0.0050	0.0144	0.0082	0.0114	0.0131	0.0078	0.0078	0.0077	0.0079	0.0483	0.0074	0.0073	0.0433	0.0414	0.0015	0	0.0068	0.0184	0.0483	0.0044	0.0136	0.0083	0.0090	0.0147	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.131886	0.18606	N	0.564805	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.453	0.49055	-1.0349	0.18888	T	0.024	0.10284	T	10	0.003815055	0.00072	T	.	.	.	0.063	0.18251	.	.	.	.	0.62208130842895	0.62141	0.208207064433	0.23289	0.28148907423	0.07700	T	.	.	.	-0.444819	0.01211	T	-0.358275	0.38253	T	0.0948134441152243	0.11776	T	0.852615	0.53799	D	0.15103917	0.34356	0.1337338	0.32062	0.15103917	0.34356	0.1337338	0.32061	-9.923	0.73449	D	.	.	0.148	0.32733	B	.	.	3.268441	0.44732	22.0	0.99834496126988381	0.91542	0.07793	0.13790	N	AEFBI	0.126934	0.24408	N	0.123399649389749	0.47556	2.979665	-0.18309219842544	0.32156	1.826749	9.69845738903301E-4	0.08067	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	2.25	0.27340	0.124000	0.15557	1.036000	0.23518	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.634:0.0:0.366	9.292	0.36952	911	0.21964	Alpha/beta hydrolase fold-3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.019022	0.017544	0.000000	0.008621	0.018293	0.034091	0.05263	2431.83	108	chr1	12725328	.	C	T	2431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.813;DP=806;ExcessHet=0.119;FS=1.09;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.049;SOR=0.813	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	17	0	2	0
chr1	12775757	12775757	T	G	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.T502G:p.W168G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00509343087345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.001626	0.38439	N	0.233290	1	0.08975	N	3.355	0.91145	M	2.22	0.18248	T	-10.37	0.98995	D	0.481	0.51583	-1.0456	0.15650	T	0.096	0.36238	T	10	0.90115213	0.89476	D	0.005093	0.12908	T	0.095	0.27398	0.862	0.95885	0.144782658237	0.14088	0.5834960128586208	0.58278	0.267415043772	0.29287	0.454578965902	0.32570	T	0.257782	0.62886	T	-0.142735	0.29456	T	-0.442805	0.28494	T	0.859391689300537	0.50996	D	0.481352	0.14557	T	0.1267406	0.29678	0.110442616	0.26629	0.1267406	0.29677	0.110442616	0.26629	-9.511	0.70927	D	.	.	0.402	0.59705	A	.	.	2.514803	0.32483	19.06	0.87222255320216624	0.17074	0.01903	0.05831	N	AEFBI	0.022275	0.01093	N	-0.250200641360425	0.31096	1.740228	-0.582900336884127	0.19938	1.072037	1.58172178623832E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.8	-1.53	0.08156	0.041000	0.13813	-5.031000	0.01878	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.4129:0.0:0.2115:0.3756	3.375	0.06813	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3124.33	33	chr1	12775757	.	T	G	3124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=898;ExcessHet=0;FS=2.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.341;SOR=0.874	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	12775907	12775907	A	T	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.A652T:p.I218F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00225365485364	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370989643	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.183	0.29153	T	0.004	0.12183	B	0.006	0.12133	B	0.454269	0.12469	N	0.757199	1	0.08975	N	-0.425	0.02884	N	2.46	0.14907	T	-1.42	0.34992	N	0.129	0.12341	-0.9868	0.33396	T	0.019	0.07753	T	10	0.06498316	0.08700	T	0.002254	0.04287	T	0.003	0.00094	0.388	0.40951	0.0762999501168	0.06990	0.3438765291253385	0.34301	0.0590795601073	0.06558	0.35508364439	0.18668	T	0.00851	0.07809	T	-0.338432	0.05498	T	-0.72391	0.04609	T	0.0815123990178108	0.10180	T	0.10009	0.00745	T	0.033668708	0.03633	0.033780407	0.02329	0.033668708	0.03633	0.033780407	0.02329	-5.491	0.41784	T	.	.	0.121	0.25100	B	.	.	0.269814	0.06474	2.952	0.85378493018438117	0.15855	0.01017	0.03829	N	AEFBI	0.025330	0.01718	N	-1.18156859703964	0.05279	0.2402677	-1.2253644719313	0.05505	0.2624752	1.1675464621636E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.8	0.306	0.15053	-0.376000	0.07522	-0.183000	0.11113	-0.072000	0.16302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6086:0.2484:0.143:0.0	3.142	0.06072	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	11774.8	33	chr1	12775907	.	A	T	11774.8	.	AC=2;AF=0.053;AN=38;DP=1014;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.17;SOR=0.95	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr1	12794137	12794137	G	A	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_023013:exon3:c.G510A:p.W170X	.	438	1068	14	2	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	3.32e-05	0.0002	8.642e-05	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs576609145	0.0003	0.0011	0.0002	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0	0.0006	0.0003	0.0016	0.0002	0.0002	0.0001	0.0003	0.0019	0.0023	0.0092	0.0023	0.0024	0.0074	0.0021	0.0020	0.0054	0.0047	0.0007	0	0.0025	0.0015	0.0048	0.0021	0	0.0028	0.0035	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	0.001734	0.38161	N	0.234704	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0542977	0.58895	T	0.0768869	0.75369	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.150114	0.94673	34	0.98770900261027439	0.45971	0.03351	0.08438	N	AEFI	0.028738	0.02587	N	-0.00152480262650556	0.41786	2.505716	-0.392103728872145	0.25230	1.386319	3.21845939223488E-5	0.03775	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	1.74	0.23636	1.643000	0.36833	0.273000	0.16680	0.481000	0.22134	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.956	0.23754	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	279.33	33	chr1	12794137	.	G	A	279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.72;DP=1401;ExcessHet=0;FS=37.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.78;MQRankSum=-4.358;QD=1.48;ReadPosRankSum=-2.134;SOR=3.889	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	18	0	1	0
chr1	12794213	12794213	A	G	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.A586G:p.R196G	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.00299521	0.0013	0	0	0.0002	0	4.497e-05	0	0.0092	0.0011513	178	154602	rs559968047	0.0005	0.0005	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.99e-05	0	0	2.534e-05	0	0.0017	2.702e-06	0.0003	0.0084	0.0003	0.0003	0.0002	0.0004	0.0090	0.0002	0.0002	0.0069	0.0061	0	0	0	0	0	0	0	0	0	0.0090	0.03	0.45393	D	0.092	0.39954	T	0.852	0.47012	P	0.56	0.49558	P	0.024709	0.01617	N	2.319220	1	0.08975	N	2.92	0.84325	M	5.54	0.00885	T	-3.75	0.71157	D	0.206	0.22870	-0.9280	0.44429	T	0.009	0.03183	T	10	0.007592708	0.00173	T	.	.	.	0.125	0.34456	0.586	0.71371	0.0954503805726	0.09146	0.31178994997065806	0.31091	1.27222038898	0.82305	0.445596665144	0.31342	T	0.079612	0.36170	T	-0.520453	0.00437	T	-0.514257	0.20878	T	0.177064208710107	0.19048	T	0.468753	0.13831	T	0.13087256	0.30524	0.07994507	0.18041	0.13087256	0.30524	0.07994507	0.18041	-4.097	0.25246	T	.	.	0.181	0.39391	B	.	.	0.891535	0.12651	9.175	0.96866315966337602	0.31400	0.00548	0.02514	N	AEFI	0.041776	0.06397	N	-0.518391673272266	0.21486	1.140572	-0.807878768498264	0.14305	0.7467635	1.19417970967804E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.482	0.16025	-1.328000	0.02787	-3.624000	0.02649	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6504:0.3496:0.0:0.0	4.461	0.11088	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001186	0.000000	0.000000	0.000000	0.000000	0.000000	0.003704	0.004167	0.02632	2720.33	33	chr1	12794213	.	A	G	2720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.248;DP=1588;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.43;MQRankSum=0.749;QD=12.77;ReadPosRankSum=0.991;SOR=0.869	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	18	0	1	0
chr1	12794474	12794474	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C847T:p.H283Y	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00164612907533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200215746	5.423e-05	0.0010	2.185e-05	8.694e-05	0.0004	4.425e-05	4.096e-05	0.0003	0.0003	0	6.738e-05	0	0.0003	0	0.0004	2.345e-05	0	0.0004	0.0008	0.0066	0.0007	0.0009	0.0018	0.0007	0.0006	0.0010	0.0007	0.0002	0	0.0012	0.0015	0.0018	0.0013	0	0.0008	0.0005	0.0016	0.488	0.08042	T	0.373	0.16328	T	0.001	0.07471	B	0.008	0.13708	B	0.959497	0.07708	N	1.018660	1	0.08975	N	2.05	0.56469	M	5.51	0.00912	T	-3.0	0.62343	D	0.173	0.18512	-0.9386	0.42837	T	0.004	0.01226	T	10	0.059375614	0.07129	T	0.001646	0.02676	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.1587466601454392	0.15795	0.41441442246	0.42123	0.526407063007	0.42528	T	0.012055	0.10661	T	-0.298545	0.08798	T	-0.666616	0.07827	T	0.0575446023762822	0.06776	T	0.340666	0.07366	T	0.023380632	0.01074	0.03212981	0.01901	0.023380632	0.01074	0.03212981	0.01901	-5.053	0.37410	T	.	.	0.097	0.15921	B	.	.	-0.595727	0.01583	0.106	0.29657303040791788	0.01584	0.00119	0.00751	N	AEFI	0.024797	0.01593	N	-1.63891141640117	0.01082	0.04698796	-1.76594649224929	0.00875	0.03909194	2.37417213051124E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-2.06	0.06894	-2.140000	0.01387	-13.865000	0.00434	-3.082000	0.00127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4901:0.0:0.5099	5.402	0.15599	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	123.33	33	chr1	12794474	.	C	T	123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.604;DP=1022;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.96;MQRankSum=-8.081;QD=1.67;ReadPosRankSum=-1.179;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	18	0	1	0
chr1	12795595	12795595	G	A	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_001294139:exon2:c.G289A:p.A97T,PRAMEF1:NM_023013:exon4:c.G1024A:p.A342T	.	420	1098	3	1	0	5	0.00227169	.	.	.	2296467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00159571975176	7.7e-05	0.000199681	0.0002	9.643e-05	0	0	0	7.494e-05	0	0.0008	0.0001358	21	154602	rs374857500	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	5.984e-05	6.718e-05	0	2.52e-05	0	0.0007	0.0002	0.0002	0.0010	9.204e-05	9.187e-05	7.719e-05	0.0001	0.0006	5.53e-05	4.367e-05	0.0002	9.018e-05	2.412e-05	0	6.555e-05	0	0	0	0	0.0001	0	0.0006	0.02	0.49613	D	0.183	0.29153	T	0.231	0.30614	B	0.156	0.34472	B	0.637215	0.05847	N	1.206780	1	0.08975	N	1.755	0.45626	L	2.99	0.09262	T	-0.69	0.19720	N	0.076	0.05037	-0.9535	0.40363	T	0.017	0.06950	T	10	0.040387243	0.02604	T	0.001596	0.02548	T	0.016	0.02506	.	.	0.168933306366	0.16529	0.08937455073721443	0.08870	0.350238801745	0.36867	0.368524193764	0.20620	T	0.006704	0.06126	T	-0.576435	0.00202	T	-0.686291	0.06606	T	0.0056767943315208	0.00062	T	0.049595	0.00352	T	0.02176814	0.00797	0.038595296	0.03764	0.02176814	0.00797	0.038595296	0.03763	-4.107	0.25394	T	.	.	0.092	0.13550	B	.	.	0.716881	0.10859	7.535	0.93472083498433678	0.23265	0.00370	0.01884	N	AEFI	0.027258	0.02196	N	-1.44972885141154	0.02219	0.09773499	-1.57297597016355	0.01822	0.08300852	1.40400939172018E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.56	-1.78	0.07527	-1.243000	0.03015	-11.959000	0.00561	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3602:0.0:0.3844:0.2554	2.039	0.03331	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002966	0.000000	0.004121	0.000000	0.000000	0.008772	0.000000	0.004167	0.05263	4362.81	140	chr1	12795595	.	G	A	4362.81	.	AC=2;AF=0.053;AN=38;DP=1669;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.75;QD=31.16;SOR=1.131	GT:AD:DP:GQ:PL	0/0:406,0:406:99:0,120,1800	18	1	0	0
chr1	12825017	12825017	C	A	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon4:c.G1362T:p.L454F	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000903578800972	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs193214100	6.856e-06	6.847e-06	6.82e-06	6.892e-06	5.405e-06	3.47e-06	2.53e-06	1.94e-06	1.28e-06	0	0	0	0	5.62e-05	0	5.405e-06	1.659e-05	0	0	6.574e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	0.778154	0.06638	N	1.140860	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.062	0.03392	-1.0216	0.23195	T	0.058	0.24242	T	10	0.044774562	0.03473	T	9.04E-4	0.00844	T	.	.	.	.	0.0138822411134	0.00435	0.23726595885936505	0.23641	.	.	0.419300973415	0.27741	T	.	.	.	-0.247141	0.14452	T	-0.592778	0.13426	T	0.0189709402620792	0.00606	T	.	.	.	0.034100454	0.03761	0.042905368	0.05217	0.034100454	0.03761	0.042905368	0.05217	-3.757	0.20164	T	.	.	0.109	0.20896	B	.	.	0.255569	0.06345	2.807	0.43211175541927793	0.03238	0.00703	0.02985	N	AEFI	0.031355	0.03337	N	-1.57479118142039	0.01395	0.06082314	-1.62477028893322	0.01511	0.06843902	1.23234588467585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.52	-0.818	0.10286	-0.267000	0.08648	-6.323000	0.01431	-0.372000	0.05439	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4485:0.5515:0.0	7.136	0.24704	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	35	chr1	12825017	.	C	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0.972;QD=12.89;ReadPosRankSum=-1.733;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1446	18	0	1	0
chr1	12825478	12825478	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon4:c.901delC:p.L301Sfs*3	.	622	878	18	4	0	26	0.0145903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00139776	0.0019	0.0002	0.0012	0	0.0006	0.0014	0.0042	0.0066	0.0014165	219	154602	rs368447714	0.0089	0.0090	0.0085	0.0093	0.0193	0.0087	0.0086	0.0184	0.0181	0.0016	0.0048	0.0078	5.752e-05	0.0035	0.0140	0.0090	0.0094	0.0193	0.0059	0.0063	0.0058	0.0061	0.0136	0.0056	0.0054	0.0105	0.0094	0.0014	0.0070	0.0065	0.0047	0	0.0032	0.0216	0.0088	0.0066	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007618	0.000000	0.004412	0.005102	0.000000	0.000000	0.014151	0.019048	0.05263	785.82	8	chr1	12825477	.	AG	A	785.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=405;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0565;MLEAC=2;MLEAF=0.053;MQ=30.52;MQRankSum=1.29;QD=15.11;ReadPosRankSum=0.263;SOR=0.492	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	17	0	2	0
chr1	12859142	12859142	A	C	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.A133C:p.S45R	.	434	1068	17	3	0	23	0.0106531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0007	.	0.0224	0.0065	0.0169	0.0287	0.0154	0.0220	0.0255	0.0370	1.94e-05	3	154602	rs148395681	0.0003	0.0058	0.0002	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	9.013e-05	0.0005	0.0005	0.0015	9.447e-05	0.0002	0.0002	0.0003	0.0016	0.0016	0.0078	0.0016	0.0016	0.0042	0.0015	0.0014	0.0027	0.0023	0.0004	0	0.0022	0.0021	0.0030	0.0013	0	0.0020	0.0020	0.0042	0.207	0.19854	T	0.197	0.27855	T	0.0	0.02946	B	0.003	0.08700	B	0.146375	0.02927	N	1.895630	1	0.08975	N	1.2	0.30300	L	3.54	0.04799	T	-1.82	0.42763	N	0.063	0.03502	-0.9667	0.37874	T	0.018	0.07518	T	10	0.0055422187	0.00122	T	.	.	.	0.055	0.15663	0.573	0.69695	.	.	0.24634982894860383	0.24548	0.0453201509487	0.04909	0.632463812828	0.57494	T	0.005646	0.05100	T	-0.244245	0.14813	T	-0.588617	0.13786	T	0.00384108233459228	0.00041	T	.	.	.	0.08908517	0.20803	0.1023203	0.24520	0.08908517	0.20803	0.1023203	0.24519	-5.848	0.44990	T	.	.	0.204	0.42877	B	.	.	0.234352	0.06155	2.600	0.4861215699616942	0.04071	0.00120	0.00751	N	AEFI	0.021374	0.00945	N	-1.17082364800591	0.05446	0.2482901	-1.32117409778244	0.04157	0.195488	1.31962910234648E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.06	0.09491	-1.583000	0.02219	-14.080000	0.00422	0.646000	0.52725	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5854:0.4146:0.0:0.0	3.549	0.07393	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012247	0.000000	0.006793	0.008333	0.000000	0.000000	0.018519	0.034351	0.02632	34.33	34	chr1	12859142	.	A	C	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.792;DP=1089;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.16;MQRankSum=-7.579;QD=0.58;ReadPosRankSum=-1.457;SOR=0.556	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr1	12859212	12859212	C	T	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.C203T:p.S68L	.	426	1092	1	0	3	4	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00215179739865	.	.	2.48e-05	9.639e-05	0	0	0	1.499e-05	0	6.061e-05	1.94e-05	3	154602	rs17038657	1.234e-05	1.232e-05	1.5e-05	9.643e-06	0.0003	7.71e-06	6.36e-06	6.119e-05	2.531e-05	2.997e-05	0	0	0	0	0.0003	9.903e-06	4.978e-05	1.16e-05	1.989e-05	1.976e-05	1.295e-05	2.718e-05	2.95e-05	5.29e-06	2.47e-06	4.9e-06	1.83e-06	2.438e-05	0	0	0	0	0	0	2.95e-05	0	0	0.069	0.35537	T	0.072	0.43344	T	0.997	0.70673	D	0.894	0.63417	P	0.637016	0.05846	N	1.213080	1	0.08975	N	2.29	0.65257	M	2.72	0.11947	T	-3.85	0.72353	D	0.139	0.13769	-1.0346	0.18983	T	0.061	0.25455	T	10	0.18030626	0.33207	T	0.002152	0.04016	T	0.014	0.01968	0.443	0.49975	0.0297737177859	0.01360	0.2653780246734523	0.26450	0.0391675380776	0.04173	0.560453057289	0.47331	T	0.023508	0.17932	T	-0.371786	0.03505	T	-0.589674	0.13694	T	0.724989533424377	0.41952	D	.	.	.	0.067806475	0.14717	0.09926532	0.23695	0.067806475	0.14716	0.09926532	0.23695	-7.626	0.58492	D	.	.	0.173	0.37876	B	.	.	1.462563	0.18854	13.96	0.98606921652714785	0.43585	0.00289	0.01551	N	AEFI	0.028151	0.02428	N	-0.506325204835683	0.21875	1.164108	-0.816938534864191	0.14084	0.7341446	1.14970700427219E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-0.495	0.11430	0.151000	0.16101	-5.256000	0.01787	0.515000	0.23462	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5898:0.4102:0.0	4.573	0.11614	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1278.33	34	chr1	12859212	.	C	T	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1345;ExcessHet=0;FS=2.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.15;SOR=0.952	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	18	0	1	0
chr1	12859862	12859862	A	G	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon3:c.A457G:p.I153V	.	433	1055	14	2	18	36	0.00845865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0013542733163	.	0.000998403	0.0001	0	0.0002	0.0003	0	6.045e-05	0	0.0002	0.0001921	5	26028	rs200536956	0.0014	0.0069	0.0012	0.0016	0.0103	0.0013	0.0013	0.0095	0.0091	0.0002	0.0015	0.0012	0.0103	0.0009	0.0019	0.0008	0.0016	0.0062	0.0047	0.0072	0.0046	0.0047	0.0244	0.0044	0.0043	0.0208	0.0195	0.0009	0	0.0040	0.0050	0.0244	0.0028	0.0034	0.0050	0.0049	0.0203	0.111	0.29029	T	0.131	0.34596	T	0.0	0.02946	B	0.001	0.04355	B	0.554836	0.05391	N	1.365610	1	0.08975	N	-0.08	0.04796	N	3.62	0.04399	T	-0.7	0.19933	N	0.035	0.01004	-0.9131	0.46467	T	0.007	0.02282	T	10	0.01134035	0.00248	T	0.001354	0.01936	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.2155050803687211	0.21466	0.0374973046264	0.03981	0.522633910179	0.41997	T	0.015135	0.12752	T	-0.357104	0.04296	T	-0.750732	0.03457	T	0.0191184742931647	0.00620	T	.	.	.	0.039165292	0.05356	0.040626336	0.04433	0.039165292	0.05356	0.040626336	0.04432	-3.456	0.15821	T	.	.	0.108	0.20352	B	.	.	-0.884169	0.00953	0.037	0.29172335004058758	0.01534	0.00120	0.00751	N	AEFI	0.019432	0.00673	N	-1.75461075522274	0.00666	0.0287285	-1.81591447708507	0.00710	0.0316091	3.49053143285834E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.68	0.07773	-0.968000	0.03928	-14.116000	0.00420	-2.728000	0.00203	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.7084:0.0:0.0	6.211	0.19841	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	356.33	33	chr1	12859862	.	A	G	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=2046;ExcessHet=0;FS=10.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.85;MQRankSum=-6.266;QD=2.53;ReadPosRankSum=2.1;SOR=1.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:173,0:173:99:.:.:0,120,1800:.	18	0	1	0
chr1	12881867	12881867	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.G862A:p.D288N	.	437	1060	23	2	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00114698807214	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200956025	0.0026	0.0086	0.0024	0.0027	0.0064	0.0025	0.0025	0.0057	0.0055	0.0003	0.0019	0.0021	0.0064	0.0018	0.0022	0.0025	0.0026	0.0041	0.0028	0.0079	0.0032	0.0024	0.0041	0.0026	0.0025	0.0034	0.0032	0.0009	0	0.0034	0.0021	0.0037	0.0027	0	0.0038	0.0036	0.0041	0.16	0.23721	T	0.186	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.023064	0.26512	N	0.418720	1	0.08975	N	1.62	0.41497	L	0.7	0.51474	T	-3.81	0.71882	D	0.278	0.31478	-0.9856	0.33687	T	0.144	0.46696	T	10	0.0845927	0.14194	T	0.001147	0.01434	T	0.051	0.14325	.	.	0.158396225186	0.15383	0.24433227600248794	0.24347	2.50878901569	0.97686	0.701608836651	0.67376	T	0.023709	0.18049	T	-0.275459	0.11156	T	-0.633454	0.10154	T	0.562671661376953	0.34956	D	.	.	.	0.023086784	0.01019	0.024811512	0.00508	0.023086784	0.01019	0.024811512	0.00508	-3.6	0.17857	T	.	.	0.126	0.26607	B	.	.	0.790309	0.11606	8.196	0.99289873868908907	0.58219	0.00254	0.01397	N	AEFI	0.020490	0.00814	N	-0.770649728458505	0.14080	0.6984676	-1.05249213120013	0.08655	0.4266333	1.25233174664961E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.89	0.10041	-0.308000	0.08196	-11.230000	0.00623	-0.552000	0.04894	0.089000	0.22556	0.000000	0.08366	0.005000	0.06747	0.0:0.5146:0.2846:0.2008	3.037	0.05754	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	290.33	83	chr1	12881867	.	C	T	290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.151;DP=2038;ExcessHet=0;FS=5.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.56;MQRankSum=-4.069;QD=2.07;ReadPosRankSum=1.92;SOR=1.449	GT:AD:DP:GQ:PL	0/0:242,0:242:99:0,120,1800	18	0	1	0
chr1	12883267	12883267	A	G	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon2:c.T128C:p.M43T	.	.	.	.	.	.	.	.	.	.	.	2805755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00299521	0.0097	0.0012	0.0012	0	0.0507	0.0118	0.0179	0.0002	0.0076713	1186	154602	rs146128733	0.0074	0.0074	0.0076	0.0072	0.0069	0.0073	0.0072	0.0067	0.0067	0.0014	0.0009	0.0076	0	0.0460	0	0.0069	0.0060	0.0004	0.0077	0.0077	0.0065	0.0089	0.0075	0.0073	0.0072	0.0070	0.0068	0.0014	0.0055	0.0015	0.0073	0	0.0495	0	0.0075	0.0055	0.0002	0.102	0.30235	T	0.228	0.25286	T	0.016	0.17332	B	0.006	0.12133	B	0.963002	0.07730	N	1.016890	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-3.8	0.71762	D	0.248	0.28028	-0.9095	0.46916	T	0.011	0.03903	T	10	0.0037043393	0.00068	T	.	.	.	0.078	0.22779	.	.	0.0138822411134	0.00435	0.16617032186185046	0.16537	0.0178854614484	0.01750	0.739723563194	0.72932	T	0.022985	0.17626	T	-0.21032	0.19334	T	-0.539886	0.18308	T	0.00155098745962767	0.00016	T	.	.	.	0.047090832	0.07991	0.10585728	0.25455	0.047090832	0.07991	0.10585728	0.25454	-5.685	0.43560	T	.	.	0.212	0.44015	B	.	.	0.494162	0.08635	5.403	0.43299864030858803	0.03250	0.00415	0.02058	N	AEFI	0.024512	0.01528	N	-1.09721910115188	0.06694	0.3088886	-1.20313404250485	0.05860	0.2803861	1.09881635656348E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.16	0.14261	0.033000	0.13642	-8.227000	0.01006	0.511000	0.23309	0.007000	0.17678	0.000000	0.08366	0.027000	0.12703	0.6022:0.0:0.0:0.3978	3.337	0.06687	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001596	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.007692	0.02632	2249.33	37	chr1	12883267	.	A	G	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=1128;ExcessHet=0;FS=1.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.65;MQRankSum=-0.743;QD=11.96;ReadPosRankSum=-1.205;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	18	0	1	0
chr1	12895160	12895160	A	G	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon3:c.T292C:p.W98R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000900751693478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.067	0.35918	T	0.393	0.15355	T	0.035	0.20614	B	0.048	0.24975	B	0.489833	0.12070	N	0.782869	1	0.08975	N	2.205	0.62170	M	2.33	0.16492	T	-7.59	0.95305	D	0.216	0.24135	-0.9740	0.36344	T	0.025	0.10688	T	10	0.122258335	0.23189	T	9.01E-4	0.00844	T	0.058	0.16647	0.609	0.74182	0.043077524339	0.03247	0.1856254885102338	0.18480	.	.	0.634588718414	0.57795	T	0.098737	0.40285	T	-0.243493	0.14907	T	-0.587537	0.13880	T	0.578959286212921	0.35578	D	.	.	.	0.06548455	0.13998	0.05725825	0.10377	0.06548455	0.13998	0.05725825	0.10376	-3.673	0.18920	T	.	.	0.559	0.67191	A	.	.	1.819935	0.23127	15.90	0.39768714017180984	0.02765	0.00515	0.02406	N	AEFI	0.026516	0.02004	N	-1.12268718496827	0.06241	0.2867652	-1.23118383088517	0.05416	0.2579909	1.15730272507718E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.99	-0.598	0.11065	0.078000	0.14615	-0.942000	0.06844	0.355000	0.20016	0.062000	0.21832	0.000000	0.08366	0.162000	0.20715	0.5213:0.0:0.188:0.2906	1.667	0.02636	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	39	chr1	12895160	.	A	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.68;MQRankSum=2.38;QD=11.9;ReadPosRankSum=-1.856;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:84:.:.:0,84,1260:.	18	0	1	0
chr1	12919851	12919851	G	A	splicing	PRAMEF7	NM_001012277:exon4:c.864-1G>A	.	.	.	877	644	0	1	0	2	0.00155039	1.0000	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.248e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs199770514	0.0025	0.0070	0.0021	0.0029	0.0114	0.0025	0.0024	0.0107	0.0104	0.0007	0.0028	0.0025	0.0085	0.0018	0.0023	0.0016	0.0028	0.0114	0.0003	0.0046	0.0003	0.0003	0.0012	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0004	0	0.0012	0.0003	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702418	0.41289	T	-0.338674	0.40494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.662730	0.34696	19.70	0.97373563797846296	0.33637	0.47059	0.27898	N	AEFI	.	.	.	0.491650854872737	0.66601	4.971257	0.152247568033959	0.47260	2.959018	1.70053872581964E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0896902	0.20274	1.68	1.68	0.23219	3.640000	0.54086	1.582000	0.27480	0.320000	0.19365	0.517000	0.27088	0.309000	0.24262	0.006000	0.07323	0.0:0.0:1.0:0.0	9.375	0.37437	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	204.08	33	chr1	12919851	.	G	A	204.08	.	AC=2;AF=0.063;AN=32;DP=231;ExcessHet=0;FS=0;InbreedingCoeff=0.3676;MLEAC=2;MLEAF=0.063;MQ=25.91;QD=30.17;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	15	1	0	3
chr1	12919865	12919865	T	C	exonic	PRAMEF7	.	nonsynonymous SNV	PRAMEF7:NM_001012277:exon4:c.T877C:p.S293P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0026337940387	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs200741009	0.0028	0.0070	0.0024	0.0032	0.0130	0.0027	0.0027	0.0122	0.0119	0.0009	0.0038	0.0024	0.0091	0.0021	0.0019	0.0018	0.0033	0.0130	0.0002	0.0041	0.0001	0.0002	0.0011	0.0001	8.75e-05	0.0002	8.235e-05	0.0003	0	0.0002	0	0.0005	0.0002	0	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.000011	0.62929	N	0.066123	0.999999	0.08975	N	-1.71	0.00345	N	5.35	0.01058	T	4.82	0.00027	N	0.192	0.21056	-0.9122	0.46582	T	0.001	0.00438	T	10	0.064653784	0.08607	T	0.002634	0.05349	T	0.101	0.28911	.	.	0.158396225186	0.15383	0.25308466352116044	0.25222	.	.	0.501503288746	0.39037	T	0.043881	0.26642	T	-0.321179	0.06801	T	-0.699128	0.05874	T	0.0665859282016754	0.08163	T	.	.	.	0.1624676	0.36324	0.17664526	0.40213	0.1624676	0.36324	0.17664526	0.40212	0.877	0.00148	T	.	.	0.037	0.00007	B	.;.	.;.	0.037642	0.04546	1.237	0.81474547889342031	0.13703	0.00020	0.00220	N	AEFI	0.009686	0.00059	N	-1.55856231072618	0.01485	0.06483202	-1.4973977514051	0.02366	0.10869	2.01611720251108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.68	1.68	0.23219	0.455000	0.21555	-15.000000	0.00376	-0.699000	0.04065	0.050000	0.21411	0.000000	0.08366	0.002000	0.04165	0.0:0.8267:0.0:0.1733	6.411	0.20895	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	102.08	33	chr1	12919865	.	T	C	102.08	.	AC=2;AF=0.071;AN=28;DP=230;ExcessHet=0;FS=0;InbreedingCoeff=0.3546;MLEAC=2;MLEAF=0.071;MQ=25.63;QD=25.52;SOR=3.258	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	1	0	5
chr1	12939148	12939148	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A958G:p.I320V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00260485781724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331318799	0.0036	0.0090	0.0032	0.0040	0.0113	0.0035	0.0035	0.0105	0.0102	0.0007	0.0048	0.0048	0.0105	0.0029	0.0053	0.0026	0.0041	0.0113	0.0035	0.0094	0.0035	0.0035	0.0113	0.0032	0.0031	0.0085	0.0075	0.0010	0.0015	0.0031	0.0035	0.0113	0.0024	0.0085	0.0041	0.0030	0.0106	0.311	0.13971	T	0.327	0.18732	T	0.001	0.07471	B	0.002	0.06944	B	0.245044	0.15629	N	0.642203	1	0.08975	N	0.335	0.10427	N	0.66	0.52416	T	-0.54	0.16598	N	0.085	0.06190	-1.0572	0.12465	T	0.072	0.29227	T	10	0.01188305	0.00258	T	0.002605	0.05263	T	0.021	0.04004	0.367	0.37524	0.043077524339	0.03247	0.09847446408160296	0.09778	1.42932621729	0.85777	0.619717359543	0.55689	T	0.010783	0.09704	T	-0.249914	0.14108	T	-0.596761	0.13085	T	0.273441195487976	0.23894	T	.	.	.	0.025925655	0.01587	0.025626402	0.00614	0.025925655	0.01586	0.025626402	0.00614	-4.474	0.30547	T	.	.	0.071	0.03811	B	.;.	.;.	0.100598	0.05021	1.573	0.20238830773981528	0.00719	0.00321	0.01686	N	AEFI	0.027556	0.02273	N	-1.20209849819569	0.04969	0.2254696	-1.33783456991949	0.03951	0.1853828	1.63327906929661E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-1.61	0.07951	0.237000	0.17763	-20.000000	0.00162	-1.186000	0.01380	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2002:0.2887:0.511	2.475	0.04296	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	18	chr1	12939148	.	T	C	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.12;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.77;MQRankSum=-2.23;QD=2.09;ReadPosRankSum=0.085;SOR=0.193	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,727:.	18	0	1	0
chr1	12939171	12939171	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A935G:p.K312R	.	6	218	1	1	0	3	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000819015957068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254674237	0.0038	0.0091	0.0034	0.0041	0.0116	0.0036	0.0036	0.0106	0.0102	0.0007	0.0050	0.0048	0.0116	0.0027	0.0055	0.0026	0.0041	0.0113	0.0030	0.0091	0.0033	0.0027	0.0100	0.0027	0.0026	0.0073	0.0064	0.0006	0	0.0027	0.0021	0.0100	0.0014	0.0092	0.0036	0.0033	0.0090	0.319	0.13610	T	0.545	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.786183	0.09433	N	0.894266	1	0.08975	N	0.16	0.08945	N	3.05	0.08721	T	0.04	0.06488	N	0.031	0.00770	-0.9503	0.40920	T	0.011	0.04042	T	10	0.0287112	0.01001	T	8.19E-4	0.00670	T	0.008	0.00669	0.321	0.30064	0.043077524339	0.03247	0.13067035770785318	0.12992	1.40537134021	0.85306	0.509608924389	0.40167	T	0.00755	0.06949	T	-0.430371	0.01475	T	-0.855974	0.00887	T	0.084899618084257	0.10602	T	.	.	.	0.04236657	0.06411	0.025389824	0.00582	0.04236657	0.06410	0.025389824	0.00582	-5.142	0.38346	T	.	.	0.068	0.02960	B	.;.	.;.	-0.873174	0.00971	0.038	0.34431606410657845	0.02106	0.00083	0.00561	N	AEFI	0.026677	0.02047	N	-1.91011027022459	0.00327	0.01405942	-2.00273199843751	0.00302	0.01334637	9.16317648746148E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-3.171000	0.00633	-20.000000	0.00162	-3.145000	0.00118	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1948:0.2729:0.5323	3.835	0.08402	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	46.33	18	chr1	12939171	.	T	C	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.66;MQRankSum=-1.701;QD=4.63;ReadPosRankSum=-0.589;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:57:.:.:0,57,767:.	18	0	1	0
chr1	13115686	13115686	C	-	exonic	HNRNPCL2	.	frameshift deletion	HNRNPCL2:NM_001136561:exon2:c.715delG:p.E239Sfs*31	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	8.645e-05	0.0001	0	0	0.0011	0.0040	0.0004463	69	154602	rs775469341	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	2.991e-05	0	0	2.519e-05	0	0.0002	3.597e-06	0.0002	0.0041	0.0001	0.0001	6.445e-05	0.0002	0.0039	9.173e-05	7.725e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.942e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3047.29	33	chr1	13115685	.	TC	T	3047.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.379;DP=1262;ExcessHet=0;FS=3.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.56;MQRankSum=-0.14;QD=13.02;ReadPosRankSum=-1.56;SOR=0.777	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr1	13198855	13198855	C	T	exonic	PRAMEF13	.	stopgain	PRAMEF13:NM_001291380:exon3:c.G339A:p.W113X	.	983	538	1	0	0	1	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187720908	3.744e-05	3.404e-05	3.589e-05	3.898e-05	0.0006	2.492e-05	2.081e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.108e-05	7.301e-05	0	4.319e-05	3.683e-05	0	9.116e-05	0.0007	1.147e-05	6.18e-06	0.0001	5.076e-05	0	0	0	0	0.0007	0	0	3.822e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.262935	0.64797	24.7	0.98237260034390927	0.39449	0.01579	0.05145	N	AEFI	.	.	.	-0.122519210791451	0.36413	2.104416	-0.519695957106637	0.21619	1.170366	2.21208970121553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	1.14	0.19817	0.332000	0.19494	0.751000	0.21237	0.284000	0.18682	0.136000	0.23442	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	5.624	0.16750	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	1462.52	.	chr1	13198855	.	C	T	1462.52	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-1.754;DP=560;ExcessHet=0;FS=6.106;InbreedingCoeff=1;MLEAC=3;MLEAF=0.115;MQ=42.86;MQRankSum=0.955;QD=26.12;ReadPosRankSum=2.73;SOR=0.075	GT:AD:DP:GQ:PL	1/1:3,53:56:65:1484,65,0	12	1	0	6
chr1	13225081	13225081	T	C	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.A640G:p.N214D,PRAMEF22:NM_001100631:exon2:c.A640G:p.N214D	.	.	.	.	.	.	.	.	.	.	.	2201965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763020534	8.894e-06	1.026e-05	8.169e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	7.195e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841649	0.07003	N	1.075240	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9655	0.38112	T	0.032	0.13723	T	10	0.11861926	0.22429	T	0.024504	0.47498	T	.	.	0.542	0.65446	0.0297737177859	0.01360	0.128912251051026	0.12816	.	.	0.704170525074	0.67747	T	0.105483	0.41600	T	-0.307206	0.07996	T	-0.679056	0.07041	T	0.0478166379034519	0.05110	T	.	.	.	0.064217865	0.13603	0.061217017	0.11786	0.064217865	0.13602	0.061217017	0.11786	-3.355	0.14457	T	.	.	0.104	0.18663	B	.	.	0.262767	0.06410	2.879	0.94888337318801164	0.25727	0.00268	0.01460	N	AEFI	0.028681	0.02573	N	-1.06374319058193	0.07320	0.339694	-1.20961213846844	0.05755	0.2750815	1.44059800943036E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	-1.42	0.08446	-0.321000	0.08060	-20.000000	0.00162	-0.364000	0.05486	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5129:0.0:0.0:0.4871	3.581	0.07504	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1818.33	452	chr1	13225081	.	T	C	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=6784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=-1.879;SOR=0.666	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr1	13225243	13225243	T	C	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.A478G:p.M160V,PRAMEF22:NM_001100631:exon2:c.A478G:p.M160V	.	409	1112	1	0	0	1	0.000449438	.	.	.	2757939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779657548	0.0002	0.0012	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.983e-05	0.0001	3.827e-05	2.519e-05	1.872e-05	0	0.0002	0.0001	0.0001	0.0005	0.0008	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0006	0.0001	0	0.0003	0	0	9.409e-05	0	0.0009	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	0.498401	0.05077	N	1.400690	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9752	0.36082	T	0.017	0.06998	T	10	0.046002	0.03739	T	0.033126	0.54762	D	.	.	0.394	0.41935	0.0297737177859	0.01360	0.11683826247773464	0.11611	.	.	0.637036979198	0.58143	T	0.00909	0.08297	T	-0.421894	0.01664	T	-0.843798	0.01043	T	0.0395172559159216	0.03603	T	.	.	.	0.079071544	0.18045	0.09601313	0.22796	0.079071544	0.18044	0.09601313	0.22796	-3.225	0.12788	T	.	.	0.057	0.00604	B	.	.	-0.974571	0.00808	0.027	0.28247617585797591	0.01441	0.00139	0.00851	N	AEFI	0.020697	0.00843	N	-1.69741894781234	0.00851	0.03681256	-1.76423220620915	0.00881	0.03936638	1.29799802374372E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	-0.973	0.09771	-2.108000	0.01423	-15.955000	0.00333	-2.399000	0.00295	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.23:0.0:0.4466:0.3235	1.869	0.03010	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2377.33	487	chr1	13225243	.	T	C	2377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=7087;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.61;MQRankSum=-6.559;QD=3.65;ReadPosRankSum=0.813;SOR=0.7	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr1	13306898	13306898	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon3:c.G548A:p.S183N	.	640	865	13	4	0	21	0.0119931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0068	0.0012	0.0015	0.0036	0.0013	0.0013	0.0032	0.0031	0.0003	0.0016	0.0007	0.0016	0.0006	0.0015	0.0012	0.0008	0.0036	1.369e-05	0.0003	0	2.924e-05	2.862e-05	0	0	.	.	0	0	0	0	0	0	0	2.862e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08519915	0.14360	T	.	.	.	.	.	.	.	.	.	0.15008973343766635	0.14930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069962904	0.15370	0.11901963	0.28728	0.069962904	0.15370	0.11901963	0.28727	-3.204	0.12530	T	.	.	0.085	0.10159	B	.	.	-0.249960	0.02846	0.399	0.18888155392224082	0.00614	0.00044	0.00357	N	AEFI	.	.	.	.	.	.	.	.	.	2.51985763540248E-4	0.06190	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0423056	0.02128	0.632	-1.26	0.08892	-0.840000	0.04471	-6.675000	0.01335	-1.053000	0.01634	0.002000	0.15269	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	104.35	.	chr1	13306898	.	G	A	104.35	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.013;DP=632;ExcessHet=0;FS=7.602;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.029;MQ=32.85;MQRankSum=-1.004;QD=2.01;ReadPosRankSum=-1.815;SOR=2.608	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	1	2
chr1	13308405	13308405	C	T	exonic	PRAMEF33	.	stopgain	PRAMEF33:NM_001291381:exon4:c.C943T:p.Q315X	.	627	870	20	5	0	30	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs200530087	0.0031	0.0049	0.0026	0.0035	0.0138	0.0030	0.0030	0.0131	0.0128	0.0028	0.0025	0.0023	0.0005	0.0007	0.0070	0.0023	0.0037	0.0138	0.0020	0.0028	0.0022	0.0018	0.0038	0.0018	0.0017	0.0027	0.0024	0.0032	0	0.0038	0	0.0003	0.0006	0	0.0011	0.0053	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.573511	0.72187	25.8	0.54517735962146052	0.05154	0.00213	0.01210	N	AEFI	.	.	.	.	.	.	.	.	.	1.15806790253665E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-0.603	0.11047	0.161000	0.16298	-4.620000	0.02066	-0.467000	0.05102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6908:0.0:0.3092	3.659	0.07767	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	918.33	20	chr1	13308405	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.974;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.22;MQRankSum=-0.204;QD=11.2;ReadPosRankSum=-0.136;SOR=0.65	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	50.59	10	chr1	13308568	.	T	C	50.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.792;DP=382;ExcessHet=0.1259;FS=21.813;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=32.49;MQRankSum=0.277;QD=2.98;ReadPosRankSum=-1.465;SOR=3.222	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:3,0:3:0:.:.:0,0,44:.	16	0	2	1
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	110.33	64	chr1	13318598	.	G	A	110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1030;ExcessHet=0;FS=26.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.22;MQRankSum=-2.018;QD=0.43;ReadPosRankSum=-2.505;SOR=2.745	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	18	0	1	0
chr1	13319834	13319839	AGAGCA	-	exonic	PRAMEF15	.	nonframeshift deletion	PRAMEF15:NM_001098376:exon3:c.756_761del:p.E253_Q254del	.	435	1037	50	0	0	50	0.0235405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.829e-05	0.0049	7.355e-05	6.298e-05	7.027e-05	5.733e-05	5.268e-05	5.4e-05	4.968e-05	0	4.487e-05	3.841e-05	5.091e-05	0.0002	0	6.645e-05	6.699e-05	7.027e-05	0.0002	0.0046	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.415e-05	0	0.0004	0	0.0010	0.0004	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	318.29	38	chr1	13319833	.	CAGAGCA	C	318.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.725;DP=1520;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.35;MQRankSum=-2.836;QD=0.72;ReadPosRankSum=2.11;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,116,1800:.	18	0	1	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	385.43	38	chr1	13319836	.	A	*	385.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.554;DP=1799;ExcessHet=0.119;FS=4.19;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=31.08;MQRankSum=-6.775;QD=0.5;ReadPosRankSum=1.22;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,116,1800:.	18	0	1	0
chr1	13319841	13319841	-	AAC	exonic	PRAMEF15	.	nonframeshift insertion	PRAMEF15:NM_001098376:exon3:c.763_764insAAC:p.K255_K256insQ	.	429	1040	50	0	3	53	0.0234742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	9.159e-05	0.0001	9.076e-05	8.548e-05	9.87e-05	9.265e-05	0	4.495e-05	3.848e-05	5.099e-05	0.0002	0	0.0001	3.369e-05	0.0001	0.0003	0.0047	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.421e-05	0	0.0005	0	0.0010	0.0007	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	339.29	38	chr1	13319841	.	A	AAAC	339.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.998;DP=1490;ExcessHet=0;FS=0.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.75;MQRankSum=-3.106;QD=0.78;ReadPosRankSum=2.36;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,116,1800:.	18	0	1	0
chr1	13319850	13319850	A	T	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.A772T:p.I258F	.	429	1045	48	0	0	48	0.0224509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0465945570856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428519179	4.665e-05	0.0031	4.853e-05	4.475e-05	0.0002	3.726e-05	3.407e-05	3.85e-05	3.448e-05	0	0	0	0	0.0002	0.0002	4.915e-05	0	2.338e-05	0.0003	0.0049	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	4.841e-05	0	0.0007	0	0.0004	0.0007	0	0.0003	0	0.0006	0.9	0.02424	T	0.776	0.04387	T	.	.	.	.	.	.	0.001351	0.00773	N	19.271900	1	0.08975	N	.	.	.	5.52	0.00903	T	1.5	0.00737	N	0.059	0.03069	-0.9244	0.44943	T	0.002	0.00497	T	8	0.030527383	0.01180	T	8.26E-4	0.00670	T	.	.	.	.	0.0138822411134	0.00435	0.33559197118945355	0.33472	.	.	0.548362731934	0.45626	T	.	.	.	-0.398354	0.02374	T	-0.809984	0.01665	T	0.0521829248714305	0.05879	T	0.019698	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	-0.990380	0.00785	0.025	0.12626954865192833	0.00225	0.00048	0.00378	N	AEFI	0.015058	0.00269	N	-1.80295027828649	0.00538	0.02316194	-1.93913050305334	0.00409	0.01808103	1.63364461905026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.89	0.05326	-2.241000	0.01279	-20.000000	0.00162	-2.623000	0.00229	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.219:0.2393:0.2149:0.3268	0.134	0.00071	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	304.33	38	chr1	13319850	.	A	T	304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.732;DP=1505;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.67;MQRankSum=-3.541;QD=0.68;ReadPosRankSum=0.978;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,116,1800:.	18	0	1	0
chr1	13344565	13344565	C	T	exonic	PRAMEF14	.	stopgain	PRAMEF14:NM_001024661:exon3:c.G339A:p.W113X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	4.11e-06	1.369e-06	1.383e-06	2.69e-05	2.3e-07	9e-08	.	.	0	0	0	2.69e-05	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008848	0.30636	N	0.319304	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267198	0.80189	D	0.146035	0.79933	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	5.142169	0.86097	28.8	0.98857389486287572	0.47407	0.02025	0.06077	N	AEFI	0.049034	0.08429	N	-0.0477691145231672	0.39703	2.345583	-0.4159100341951	0.24530	1.343766	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	0.400000	0.20657	0.628000	0.20199	0.301000	0.18947	0.113000	0.23048	0.000000	0.08366	0.023000	0.12082	0.0:1.0:0.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	180.35	37	chr1	13344565	.	C	T	180.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=658;ExcessHet=0;FS=9.031;InbreedingCoeff=0.2173;MLEAC=1;MLEAF=0.026;MQ=27.99;MQRankSum=-0.887;QD=22.54;ReadPosRankSum=0.157;SOR=4.163	GT:AD:DP:GQ:PL	0/1:1,7:8:8:194,0,8	18	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	317.52	88	chr1	13345161	.	G	C	317.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=753;ExcessHet=0;FS=8.603;InbreedingCoeff=-0.0344;MLEAC=1;MLEAF=0.026;MQ=33.95;MQRankSum=-2.4;QD=3.61;ReadPosRankSum=1.39;SOR=2.111	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,27	18	0	1	0
chr1	13369191	13369191	C	T	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon3:c.G1316A:p.R439H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.001177790889	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758393659	7.33e-05	7.593e-05	7.77e-05	6.886e-05	0.0006	6.19e-05	5.75e-05	0.0004	0.0003	0.0006	2.236e-05	0	0.0002	0	0.0002	6.476e-05	4.983e-05	1.161e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.009179	0.01232	N	2.829510	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9819	0.34561	T	0.148	0.47344	T	10	0.13940114	0.26505	T	0.003498	0.07939	T	0.034	0.08419	0.369	0.37850	0.082315109003	0.07666	0.10266209795155036	0.10196	.	.	0.584081232548	0.50660	T	0.02554	0.19075	T	-0.437874	0.01331	T	-0.666399	0.07841	T	0.42650380730629	0.29931	T	0.617538	0.23656	T	0.02125981	0.00719	0.01787092	0.00041	0.02125981	0.00719	0.01787092	0.00041	-4.589	0.32033	T	.	.	0.104	0.18705	B	.	.	1.366478	0.17758	13.35	0.99645109834295342	0.76943	0.00029	0.00276	N	AEFI	0.015935	0.00328	N	-0.693975273417859	0.16192	0.822784	-0.983694675877528	0.10151	0.5094611	2.97649616078636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-2.18	0.06643	-0.864000	0.04362	-7.460000	0.01152	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3087:0.2556:0.0:0.4357	1.501	0.02327	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5932.33	36	chr1	13369191	.	C	T	5932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=1169;ExcessHet=0;FS=19.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.48;MQRankSum=10.55;QD=23.54;ReadPosRankSum=5.67;SOR=0.144	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	18	0	1	0
chr1	13371846	13371846	T	C	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon1:c.A55G:p.R19G	.	442	1078	1	1	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00193392650548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400720118	0.0003	0.0017	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	3.055e-05	9.116e-05	0	5.052e-05	1.889e-05	0.0002	7.764e-05	0.0002	0.0038	0.0001	0.0003	0.0001	0.0001	0.0023	9.863e-05	8.359e-05	0.0013	0.0010	4.892e-05	0	6.664e-05	0	0.0002	0	0	7.41e-05	0.0010	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.279892	0.14965	N	0.652569	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8345	0.53009	T	0.158	0.49128	T	10	0.078886956	0.12627	T	0.002458	0.04868	T	.	.	0.518	0.61915	.	.	0.3191771873009139	0.31830	.	.	0.613052248955	0.54747	T	0.184227	0.53682	T	.	.	.	.	.	.	.	.	.	0.0638936	0.00465	T	0.15734927	0.35460	0.10878459	0.26209	0.15734927	0.35459	0.10878459	0.26208	-7.742	0.59299	D	.	.	0.108	0.20547	B	.	.	1.481006	0.19065	14.07	0.80219062071296932	0.13100	0.00480	0.02286	N	AEFI	0.035448	0.04564	N	-0.874140333807253	0.11460	0.5531669	-1.07606447539476	0.08172	0.4007081	1.10222198371035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-0.189	0.12608	-0.024000	0.12382	-0.389000	0.09488	0.468000	0.21784	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3864:0.0:0.0:0.6136	3.113	0.05980	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2059.33	62	chr1	13371846	.	T	C	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1008;ExcessHet=0;FS=4.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.76;MQRankSum=0.315;QD=14.3;ReadPosRankSum=-0.056;SOR=0.44	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr1	13389938	13389938	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.G281A:p.R94H	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00114194199798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs912138295	0.0010	0.0010	0.0007	0.0013	0.0114	0.0010	0.0009	0.0108	0.0106	0.0003	2.236e-05	0.0090	5.038e-05	0.0004	0.0011	0.0001	0.0016	0.0114	0.0008	0.0008	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0005	0	0.0001	0.0084	0.0002	0.0004	0	0.0001	0.0005	0.0126	0.312	0.13925	T	0.482	0.11829	T	0.026	0.19406	B	0.015	0.17295	B	0.498292	0.05076	N	1.299070	1	0.08975	N	1.195	0.30194	L	3.56	0.04696	T	-2.08	0.47514	N	0.053	0.02462	-0.9156	0.46142	T	0.013	0.04843	T	10	0.0064017177	0.00145	T	0.001668	0.02753	T	0.023	0.04649	0.472	0.54699	0.043077524339	0.03247	0.18132400949837824	0.18051	2.2713391689	0.96273	0.593606054783	0.52003	T	0.03623	0.24023	T	-0.705135	0.00034	T	-0.778831	0.02489	T	0.0116370922565012	0.00177	T	0.106989	0.00800	T	0.029985612	0.02585	0.027755769	0.00953	0.029985612	0.02585	0.027755769	0.00953	-2.768	0.07892	T	.	.	0.087	0.11220	B	.	.	0.501504	0.08704	5.479	0.83637877073273137	0.14836	0.00135	0.00831	N	AEFI	0.024449	0.01516	N	-1.17478086580031	0.05383	0.2452787	-1.30060303373	0.04423	0.2085942	2.82563808384259E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-0.149	0.12764	-2.794000	0.00835	-20.000000	0.00162	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5537:0.4463	3.923	0.08751	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1061.33	34	chr1	13389938	.	G	A	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.22;MQRankSum=0.053;QD=14.95;ReadPosRankSum=-0.649;SOR=0.798	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1337	18	0	1	0
chr1	13392425	13392425	A	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.A1348G:p.I450V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00166570168474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.10802	T	0.295	0.20680	T	0.598	0.39274	P	0.355	0.42984	B	0.412937	0.12972	N	0.706198	1	0.08975	N	1.115	0.28702	L	0.8	0.48769	T	-0.35	0.12847	N	0.048	0.01999	-1.0091	0.27198	T	0.074	0.29739	T	10	0.104703695	0.19316	T	0.00249	0.04953	T	0.057	0.16321	0.601	0.73226	0.043077524339	0.03247	0.09389650401082755	0.09321	2.22587521974	0.95901	0.491247147322	0.37611	T	0.019942	0.15791	T	-0.326036	0.06415	T	-0.706104	0.05499	T	0.20384493470192	0.20626	T	0.638636	0.25202	T	0.019880123	0.00529	0.026964532	0.00817	0.019880123	0.00529	0.026964532	0.00817	-3.306	0.13815	T	.	.	0.127	0.27039	B	.	.	-0.106248	0.03603	0.707	0.22235110037574327	0.00885	0.00259	0.01419	N	AEFI	0.017139	0.00430	N	-1.22450606969231	0.04647	0.2101605	-1.41538368242812	0.03098	0.14384	4.7612748825739E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.61	0.07951	-0.068000	0.11519	-4.910000	0.01931	-0.300000	0.06199	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.4464:0.0:0.5536:0.0	4.511	0.11318	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2008.33	61	chr1	13392425	.	A	G	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.613;DP=972;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.06;QD=13.48;ReadPosRankSum=-0.16;SOR=0.917	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	13416364	13416364	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C10T:p.R4W	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000709417468001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200392559	2.26e-05	3.42e-05	2.18e-05	2.34e-05	6.709e-05	1.612e-05	1.418e-05	1.779e-05	1.106e-05	5.984e-05	6.709e-05	0	0	0	0	1.979e-05	6.639e-05	2.32e-05	0.0001	0.0047	7.835e-05	0.0002	0.0004	8.807e-05	7.372e-05	8.069e-05	6.111e-05	9.657e-05	0	0.0001	0	0	0.0002	0	0.0002	0	0.0004	0.259	0.16628	T	0.241	0.24334	T	.	.	.	.	.	.	0.024495	0.01612	N	2.502770	1	0.08975	N	.	.	.	3.54	0.04799	T	-2.15	0.48687	N	0.169	0.18512	-1.0067	0.27943	T	0.013	0.04938	T	8	0.07354656	0.11125	T	7.09E-4	0.00454	T	0.024	0.04979	.	.	0.0297737177859	0.01360	0.2909402595173478	0.29007	.	.	0.418873459101	0.27682	T	0.02624	0.19457	T	-0.37262	0.03463	T	-0.77302	0.02670	T	0.0575156392863194	0.06771	T	0.0345465	0.00233	T	0.06992423	0.15358	0.038510766	0.03735	0.06992423	0.15358	0.038510766	0.03735	-6.388	0.49416	T	.	.	0.100	0.17785	B	.;.	.;.	0.952806	0.13291	9.792	0.76337685020200563	0.11427	0.00210	0.01196	N	AEFI	0.047331	0.07959	N	-0.92734624835191	0.10206	0.4866062	-1.13813074264662	0.06983	0.3380191	9.86103046633029E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	-2.17	0.06663	-0.996000	0.03819	-20.000000	0.00162	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2441:0.3236:0.242:0.1903	0.477	0.00506	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	34	chr1	13416364	.	C	T	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.747;DP=790;ExcessHet=0;FS=5.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-12.53;QD=1.7;ReadPosRankSum=2.6;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr1	13416392	13416392	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C38T:p.A13V	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000861844621387	.	.	0.0042	0	0	0.0035	0	0.0071	0	0	0.0001537	4	26028	rs764804487	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0008	0.0009	0.0009	0.0008	0.0009	0.0015	0.0004	0.0002	0.0015	0.0010	0.0008	0.0001	0.0009	0.0045	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0008	0.0009	0	0.0008	0.0009	0.0008	0.0002	0.0035	0.0011	0.0014	0	0.014	0.53172	D	0.039	0.51112	D	.	.	.	.	.	.	0.000290	0.46274	D	0.148518	1	0.08975	N	.	.	.	3.31	0.06291	T	-3.25	0.65283	D	0.252	0.28498	-1.0626	0.11118	T	0.025	0.10643	T	8	0.011532217	0.00252	T	8.62E-4	0.00755	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.39221524248051254	0.39136	.	.	0.547596812248	0.45518	T	0.147362	0.48542	T	-0.314153	0.07387	T	-0.689035	0.06445	T	0.0238544619380555	0.01126	T	0.744526	0.36463	T	0.021667529	0.00781	0.040218234	0.04296	0.021667529	0.00781	0.040218234	0.04295	-7.23	0.55696	T	.	.	0.281	0.53293	B	.;.	.;.	1.297342	0.16988	12.89	0.97166827344432583	0.32656	0.00828	0.03334	N	AEFI	0.028801	0.02606	N	-0.735502719796307	0.15029	0.7538799	-0.942897332314359	0.11088	0.5627625	4.4732472864473E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	0.567	0.16510	-0.481000	0.06631	-5.194000	0.01811	-1.036000	0.01678	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.7721:0.0:0.2279	4.122	0.09581	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006032	0.000000	0.007418	0.000000	0.000000	0.009091	0.000000	0.013514	0.02632	206.33	34	chr1	13416392	.	C	T	206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=802;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=-12.95;QD=1.14;ReadPosRankSum=1.17;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr1	13416398	13416398	G	A	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G44A:p.R15Q	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000954738595631	.	0.000798722	0.0044	0	0	0	0	0.0083	.	0	0.0001537	4	26028	rs535426833	0.0024	0.0024	0.0025	0.0023	0.0030	0.0024	0.0023	0.0030	0.0029	0.0013	0.0003	0	0.0002	7.488e-05	0.0009	0.0030	0.0013	1.16e-05	0.0015	0.0050	0.0018	0.0012	0.0025	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0009	0	0	9.579e-05	0	0.0025	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.917481	0.08510	N	0.958104	1	0.08975	N	.	.	.	2.95	0.09635	T	0.96	0.01488	N	0.062	0.03392	-0.9645	0.38310	T	0.007	0.02244	T	8	0.0063766837	0.00144	T	9.55E-4	0.00957	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.19450107170321504	0.19368	.	.	0.374819844961	0.21521	T	0.004103	0.03512	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.00914196568871131	0.00115	T	0.134887	0.01066	T	0.03570078	0.04252	0.041647475	0.04782	0.03570078	0.04251	0.041647475	0.04782	-1.743	0.02345	T	.	.	0.072	0.04436	B	.;.	.;.	0.294538	0.06705	3.213	0.44568382939539153	0.03436	0.00056	0.00418	N	AEFI	0.021635	0.00985	N	-1.25016189529583	0.04297	0.1936879	-1.35657874606101	0.03728	0.1745389	1.60029541903202E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-2.74	0.05582	-0.353000	0.07740	-13.626000	0.00448	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.4376:0.0:0.3125:0.2499	2.103	0.03461	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	191.33	34	chr1	13416398	.	G	A	191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.414;DP=807;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.97;MQRankSum=-13.14;QD=1.03;ReadPosRankSum=0.676;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr1	13416415	13416415	G	C	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G61C:p.E21Q	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000469852561305	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199792661	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	1.327e-05	0.0026	2.594e-05	0	6.616e-05	2.21e-06	8.3e-07	.	.	2.411e-05	0	6.616e-05	0	0	0	0	0	0	0	0.628	0.05183	T	0.411	0.14500	T	.	.	.	.	.	.	0.292666	0.14740	N	0.662450	1	0.08975	N	.	.	.	3.25	0.06762	T	-0.49	0.15578	N	0.062	0.03502	-0.9818	0.34585	T	0.009	0.03271	T	8	0.052461863	0.05283	T	4.7E-4	0.00124	T	0.062	0.17934	0.612	0.74535	0.0138822411134	0.00435	0.2718259259719314	0.27095	.	.	0.475276619196	0.35408	T	0.026643	0.19675	T	-0.445679	0.01197	T	-0.877963	0.00671	T	0.0246847622950291	0.01231	T	0.475352	0.14216	T	0.030638695	0.02761	0.026205024	0.00698	0.030638695	0.02760	0.026205024	0.00698	-3.0	0.10181	T	.	.	0.086	0.10739	B	.;.	.;.	-0.953561	0.00840	0.029	0.083430819691428529	0.00063	0.00161	0.00961	N	AEFI	0.028939	0.02640	N	-1.89533364157793	0.00351	0.01507821	-2.07015799919646	0.00216	0.009533919	0.0169436941713714	0.12893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.09	0.05006	-1.443000	0.02512	-6.191000	0.01470	-2.725000	0.00204	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.1983:0.4282:0.0	4.511	0.11320	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.33	34	chr1	13416415	.	G	C	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=807;ExcessHet=0;FS=3.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.15;MQRankSum=-13.09;QD=0.54;ReadPosRankSum=-0.808;SOR=1.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr1	13778626	13778626	-	GAAGAAGAA	exonic	PRDM2	.	nonframeshift insertion	PRDM2:NM_001007257:exon3:c.228_229insGAAGAAGAA:p.E81_D82insEEE,PRDM2:NM_012231:exon8:c.831_832insGAAGAAGAA:p.E282_D283insEEE,PRDM2:NM_015866:exon8:c.831_832insGAAGAAGAA:p.E282_D283insEEE	.	379	1079	60	2	2	66	0.0288029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11e-06	4.105e-06	0	8.261e-06	0.0002	1.48e-06	9.7e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	1.801e-06	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5643.47	35	chr1	13778626	.	T	TGAAGAAGAA	5643.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.337;DP=909;ExcessHet=0.3672;FS=8.241;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.91;ReadPosRankSum=0.478;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	0	1	0
chr1	13782626	13782626	C	G	exonic	PRDM2	.	nonsynonymous SNV	PRDM2:NM_001007257:exon3:c.C4228G:p.L1410V,PRDM2:NM_012231:exon8:c.C4831G:p.L1611V,PRDM2:NM_015866:exon8:c.C4831G:p.L1611V	.	.	.	.	.	.	.	.	.	.	.	2758615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00874223823712	0.0002	.	9.923e-05	0	0	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs150007555	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.988e-05	8.945e-05	3.826e-05	2.519e-05	0	0	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.161e-05	6.718e-05	0.0002	0.0001	4.81e-05	0	0	0	0	0	0	0.0002	0	0	0.003	0.72154	D	0.764	0.04571	T	0.587	0.38961	P	0.104	0.31021	B	0.053521	0.22801	N	0.435365	0.819914	0.58761	D	2.395	0.69210	M	4.71	0.01655	T	-0.79	0.22508	N	0.314	0.43803	-0.9491	0.41126	T	0.011	0.04042	T	10	0.15672222	0.29511	T	0.008742	0.23074	T	0.083	0.24192	.	.	0.220282294035	0.21616	0.05177579830480218	0.05119	0.190335887594	0.21353	0.366876602173	0.20382	T	0.068743	0.33535	T	-0.385063	0.02893	T	-0.50618	0.21707	T	0.0486130456465278	0.05254	T	0.890711	0.64041	D	0.10793225	0.25521	0.07762595	0.17308	0.10793225	0.25521	0.07762595	0.17308	-3.355	0.15313	T	.	.	0.108	0.20625	B	.;.;.;.	.;.;.;.	2.158689	0.27497	17.48	0.99376924184683668	0.61715	0.81202	0.40656	D	AEFDGBCIJ	0.190515	0.31775	N	0.0958505162910099	0.46268	2.869884	0.117767010256847	0.45456	2.808582	0.999999982428596	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.07	4.21	0.48984	1.714000	0.37580	2.205000	0.31320	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.562000	0.30459	0.1374:0.7201:0.0:0.1425	7.527	0.26830	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2700.33	74	chr1	13782626	.	C	G	2700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.476;DP=1497;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=1.17;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:99:.:.:0,120,1800:.	18	0	1	0
chr1	13782632	13782632	G	A	exonic	PRDM2	.	nonsynonymous SNV	PRDM2:NM_001007257:exon3:c.G4234A:p.V1412M,PRDM2:NM_012231:exon8:c.G4837A:p.V1613M,PRDM2:NM_015866:exon8:c.G4837A:p.V1613M	.	.	.	.	.	.	.	.	.	.	.	2758616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00665569449173	0.0002	.	9.925e-05	0	0	0	0	0.0002	0	6.067e-05	0.0001035	16	154602	rs145822900	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.988e-05	8.944e-05	3.826e-05	2.519e-05	0	0	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.141e-05	7.697e-05	0.0002	0.0001	9.62e-05	0	0	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.055	0.46862	T	0.28	0.32073	B	0.034	0.22546	B	0.003180	0.35330	N	0.275088	0.876242	0.81001	D	2.295	0.65404	M	4.63	0.01817	T	-0.86	0.24898	N	0.13	0.15046	-1.0733	0.08702	T	0.018	0.07376	T	10	0.14585242	0.27661	T	0.006656	0.17557	T	0.045	0.12272	.	.	0.268702046668	0.26493	0.10635159219185651	0.10565	0.189168602932	0.21232	0.312758475542	0.12324	T	0.086589	0.37758	T	-0.445733	0.01196	T	-0.593328	0.13380	T	0.051034078001976	0.05680	T	0.787021	0.42853	T	0.07168237	0.15887	0.09011935	0.21114	0.07168237	0.15887	0.09011935	0.21113	-4.804	0.36938	T	.	.	0.110	0.21239	B	.;.;.;.	.;.;.;.	2.046349	0.26014	16.97	0.99518364285010585	0.69100	0.56148	0.30043	D	AEFDGBCIJ	0.068700	0.13564	N	-0.334012840803647	0.27864	1.532218	-0.380095224436982	0.25591	1.408273	0.999999982131105	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.61	2.74	0.31352	1.075000	0.30328	3.380000	0.37995	-0.113000	0.14837	0.780000	0.29473	1.000000	0.68203	0.540000	0.29938	0.2184:0.0:0.7816:0.0	10.098	0.41659	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2723.33	74	chr1	13782632	.	G	A	2723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=1495;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=1.55;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:99:.:.:0,120,1800:.	18	0	1	0
chr1	15251837	15251837	C	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.C53T:p.T18I	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.173684173235	.	.	4.32e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs759708313	5.714e-06	5.472e-06	1.409e-06	1.014e-05	8.835e-05	2.46e-06	1.78e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	9.267e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	U	0.000000	0.514055	0.31623	N	1.01	0.25309	L	-2.06	0.85875	D	-3.08	0.63323	D	0.46	0.49692	0.234	0.86485	D	0.614	0.86363	D	10	0.3195651	0.49341	T	0.173684	0.85030	D	0.530	0.80188	0.544	0.65731	0.255777322467	0.25185	0.46373410468018794	0.46292	.	.	0.710314154625	0.68639	T	0.009301	0.08472	T	0.00130689	0.51834	T	0.000769326	0.70386	D	0.904075264930725	0.55744	D	0.764224	0.39120	T	0.2210155	0.44669	0.24311243	0.49748	0.2210155	0.44669	0.24311243	0.49746	-4.91	0.35847	T	.	.	0.899	0.82688	P	.;.	.;.	3.946097	0.57774	23.9	0.99902847722839527	0.97426	0.62260	0.31728	D	AEFBI	0.112386	0.22216	N	0.387490045166748	0.60744	4.266731	0.352205500166054	0.58641	4.035792	0.732935102612403	0.23080	0.549168	0.22868	0	0.573078	0.20572	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.96	4.96	0.65153	2.165000	0.42023	3.944000	0.40624	0.597000	0.34315	0.984000	0.35821	0.999000	0.35428	0.968000	0.53726	0.0:1.0:0.0:0.0	13.579	0.61354	963	0.08280	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1572.33	34	chr1	15251837	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.223;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.05;SOR=0.671	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1273	18	0	1	0
chr1	15316468	15316468	G	A	splicing	FHAD1	NM_052929:exon9:c.1260+1G>A	.	.	.	429	1075	16	2	0	20	0.00921659	1.0000	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0037	0	0.0024	0	0.0032	0.0051	0	0.0038	0.0010608	164	154602	rs201462752	0.0036	0.0034	0.0035	0.0036	0.0260	0.0035	0.0034	0.0226	0.0213	0.0010	0.0018	0.0080	2.798e-05	0.0041	0.0260	0.0034	0.0047	0.0043	0.0028	0.0028	0.0028	0.0028	0.0041	0.0026	0.0025	0.0031	0.0030	0.0009	0	0.0034	0.0055	0	0.0038	0.0136	0.0035	0.0066	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.470746	0.00841	T	-0.448017	0.27916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.890183	0.80279	27.3	0.98762480573291489	0.45831	0.85382	0.44509	D	AEFBI	.	.	.	0.155085710763718	0.49053	3.110054	0.168766950585334	0.48145	3.034431	0.382346784428827	0.19972	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.95944	0.65039	4.93	4.93	0.64394	4.260000	0.58633	11.517000	0.93029	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.085	0.64480	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	65	chr1	15316468	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.76;SOR=0.7	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1062	18	0	1	0
chr1	15358264	15358264	A	G	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon20:c.A2651G:p.E884G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0507591690018	.	0.00279553	0.0005	0.0055	0	0	0	0	0	0	0.000207	32	154602	rs61742520	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0040	0.0038	0.0046	0.0006	0	0	0	0.0030	6.889e-05	0.0006	0	0.0013	0.0013	0.0013	0.0013	0.0044	0.0012	0.0011	0.0038	0.0036	0.0044	0	0.0006	0	0	0	0	0.0001	0.0009	0	0.004	0.65419	D	0.007	0.70582	D	0.976	0.58310	D	0.551	0.49270	P	.	.	.	.	0.667132	0.30397	N	2.445	0.70938	M	0.77	0.49642	T	-3.44	0.76174	D	0.135	0.24883	-0.5974	0.64923	T	0.241	0.60964	T	9	0.005558312	0.00123	T	0.050759	0.64375	D	0.183	0.45592	.	.	0.151104730317	0.14643	0.27052238739170353	0.26965	.	.	0.531665205956	0.43269	T	0.057539	0.57830	T	-0.27636	0.11056	T	-0.168795	0.57554	T	0.0501606811345975	0.05529	T	0.766723	0.40920	T	0.21755438	0.44242	0.291631	0.55188	0.21755438	0.44242	0.291631	0.55187	-5.53	0.42148	T	.	.	0.231	0.46389	B	.;.;.;.	.;.;.;.	4.234436	0.64146	24.7	0.9980010978855921	0.88461	0.88715	0.48775	D	AEFDBI	0.446658	0.50263	N	0.267404409002281	0.54503	3.615848	0.286960322776034	0.54776	3.641786	0.999998320937101	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	2.581000	0.45742	10.992000	0.84691	0.691000	0.84096	0.979000	0.35152	1.000000	0.68203	0.756000	0.36000	1.0:0.0:0.0:0.0	11.625	0.50401	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	249.33	39	chr1	15358264	.	A	G	249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.795;DP=601;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.297;SOR=0.368	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	18	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I	.	415	1086	21	0	0	21	0.00957592	.	.	YES	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.05263	2642.83	38	chr1	15445660	.	G	A	2642.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=916;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.496;SOR=0.686	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1387	17	0	2	0
chr1	15467516	15467516	A	G	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon7:c.A770G:p.N257S	.	425	1079	18	0	0	18	0.00827206	.	.	.	3893868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.172	0.00980503166046	0.0048	0.00219649	0.0043	0.0015	0.0011	0.0003	0.0027	0.0056	0.0088	0.0055	0.0043143	667	154602	rs2303193	0.0057	0.0057	0.0056	0.0058	0.0121	0.0056	0.0055	0.0099	0.0090	0.0008	0.0014	0.0033	0.0017	0.0021	0.0121	0.0063	0.0047	0.0064	0.0040	0.0040	0.0041	0.0040	0.0067	0.0038	0.0037	0.0062	0.0060	0.0013	0	0.0008	0.0043	0.0010	0.0035	0.0136	0.0067	0.0028	0.0052	0.143	0.25355	T	0.216	0.26226	T	0.003	0.11197	B	0.002	0.06944	B	0.113504	0.19312	U	0.469309	0.993	0.23805	N	-0.21	0.04010	N	-2.35	0.88066	D	0.48	0.03041	N	0.102	0.08506	-0.7224	0.59344	T	0.287	0.65851	T	10	0.025982976	0.00777	T	0.009805	0.25563	T	0.172	0.43662	.	.	0.380730819819	0.37686	0.3875976218304828	0.38674	0.257051402976	0.28275	0.300534248352	0.10481	T	0.160907	0.50494	T	-0.462912	0.00943	T	-0.433572	0.29531	T	0.00292193261163103	0.00031	T	0.20408	0.02372	T	0.037854165	0.04932	0.046039034	0.06327	0.037854165	0.04932	0.046039034	0.06327	-2.187	0.03978	T	0.08619391945385954	0.04937	0.070	0.03661	B	.	.	0.422817	0.07933	4.642	0.621761833845064	0.06896	0.14610	0.18494	N	AEFDI	0.330952	0.43083	N	-1.02185597508871	0.08151	0.3811957	-1.00446515374009	0.09686	0.4833695	0.0087733638555472	0.11738	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.08	1.87	0.24559	1.860000	0.39068	-1.431000	0.05455	-0.218000	0.08083	0.003000	0.16062	0.000000	0.08366	0.020000	0.11549	0.6057:0.3943:0.0:0.0	8.092	0.29969	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.017241	0.003049	0.003788	0.02632	2327.33	33	chr1	15467516	.	A	G	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.019;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	18	0	1	0
chr1	15493953	15493953	G	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001278054:exon4:c.C647A:p.T216N,CASP9:NM_001229:exon8:c.C1097A:p.T366N,CASP9:NM_032996:exon8:c.C848A:p.T283N	.	412	1101	8	1	0	10	0.0045208	.	.	.	706709	CASP9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.173	.	0.0081	0.00858626	0.0047	0.0395	0.0016	0	0	0.0005	0.0063	0.0029	0.002639	408	154602	rs61738967	0.0012	0.0012	0.0012	0.0011	0.0282	0.0011	0.0011	0.0267	0.0261	0.0282	0.0015	0	0	0	0.0026	0.0003	0.0022	0.0027	0.0086	0.0086	0.0088	0.0084	0.0285	0.0082	0.0081	0.0272	0.0266	0.0285	0	0.0051	0	0	0	0	0.0004	0.0071	0.0008	0.13	0.27194	T	0.105	0.38596	T	0.875	0.48103	P	0.614	0.60933	P	0.000109	0.50451	D	0.235454	0.997924	0.44325	D	2.37	0.68279	M	2.12	0.19726	T	-2.94	0.61435	D	0.591	0.70615	-1.1638	0.00668	T	0.050	0.21456	T	10	0.013510019	0.00286	T	.	.	.	0.173	0.43840	.	.	0.778309633265	0.77626	0.7111466994424631	0.71056	0.380450103368	0.39413	0.551267981529	0.46036	T	0.188661	0.54265	T	-0.452092	0.01098	T	-0.400545	0.33322	T	0.0578574189594973	0.06826	T	0.848915	0.65538	T	0.59733635	0.72548	0.5012591	0.71167	0.59733635	0.72549	0.5012591	0.71168	-9.567	0.71276	D	.	.	0.178	0.45396	B	.;.;.;.	.;.;.;.	3.708180	0.52926	23.3	0.99258442626400667	0.57121	0.96113	0.67592	D	AEFBI	0.577018	0.57878	D	0.419055479534913	0.62469	4.463465	0.421336423230595	0.62895	4.513079	0.991154779706463	0.32391	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.563494	0.21769	0	.	.	5.7	5.7	0.88690	2.599000	0.45895	6.574000	0.55976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.335000	0.25317	0.086:0.0:0.914:0.0	10.720	0.45230	922	0.19044	Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.000000	0.012228	0.000000	0.000000	0.008621	0.006135	0.003788	0.02632	1592.33	34	chr1	15493953	.	G	T	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=841;ExcessHet=0;FS=4.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.16;SOR=1.119	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1236	18	0	1	0
chr1	15506997	15506997	G	A	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon4:c.C532T:p.R178C,CASP9:NM_032996:exon4:c.C283T:p.R95C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00957248821196	0.0016	0.00159744	0.0006	0.0066	8.645e-05	0	0	1.503e-05	0.0011	6.056e-05	0.0005433	84	154602	rs145588217	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0062	0.0059	0.0069	0.0004	3.826e-05	0	0	0.0002	4.317e-05	0.0006	3.478e-05	0.0020	0.0020	0.0021	0.0018	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0007	0	0	0	0	2.94e-05	0.0028	0	0.033	0.53172	D	0.035	0.52389	D	0.925	0.51395	P	0.498	0.47596	P	0.379822	0.04413	N	1.292450	1	0.08975	N	1.445	0.36358	L	1.96	0.22270	T	-2.42	0.60188	N	0.151	0.15888	-0.9117	0.46645	T	0.043	0.18451	T	10	0.0049248636	0.00105	T	0.009572	0.25039	T	0.146	0.38789	.	.	0.301122078929	0.29733	0.49368297861306015	0.49289	0.296725836107	0.32059	0.223914712667	0.01548	T	0.171761	0.52000	T	-0.527526	0.00397	T	-0.526945	0.19593	T	0.0249703803695932	0.01269	T	0.80432	0.69109	T	0.17559114	0.38426	0.21521953	0.46103	0.17559114	0.38426	0.21521953	0.46102	-3.36	0.25068	T	.	.	0.092	0.15832	B	.;.;.;.;.	.;.;.;.;.	0.155225	0.05468	1.935	0.90671817101711094	0.19923	0.02340	0.06688	N	AEFDGBI	0.085966	0.17428	N	-1.44815624373047	0.02231	0.09830712	-1.71459605001722	0.01074	0.04823391	0.999999999951018	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.719019	0.79029	0	0.683762	0.67416	0	.	.	5.92	-11.8	0.00026	-0.747000	0.04929	-2.706000	0.03446	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0907:0.4366:0.3372:0.1355	6.935	0.23638	917	0.20147	Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14,  p20 domain|Peptidase C14A, caspase catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr1	15506997	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=763;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.489;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	18	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	283.43	44	chr1	15518245	.	C	T	283.43	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.318;DP=1293;ExcessHet=0.119;FS=146.654;InbreedingCoeff=-0.0687;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.683;SOR=9.608	GT:AD:DP:GQ:PL	0/1:116,31:147:41:41,0,2609	17	0	2	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	301.37	169	chr1	15559540	.	G	C	301.37	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-4.195;DP=1968;ExcessHet=1.3;FS=220.707;InbreedingCoeff=-0.1892;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.25;SOR=11.019	GT:AD:DP:GQ:PL	./.:93,0:93:0:0,0,2360	12	0	5	2
chr1	15567824	15567824	G	A	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon14:c.G1060A:p.E354K,DNAJC16:NM_015291:exon15:c.G1996A:p.E666K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0387014411736	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292125461	1.915e-05	1.915e-05	1.497e-05	2.338e-05	2.428e-05	1.328e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.091	0.31834	T	0.078	0.50514	T	0.728	0.42542	P	0.196	0.36635	B	0.000000	0.84330	D	0.044027	1	0.81001	D	1.24	0.30952	L	-0.57	0.71307	T	-1.7	0.40468	N	0.536	0.57860	-0.4175	0.71472	T	0.299	0.67045	T	10	0.49270177	0.61086	T	0.038701	0.58377	D	0.189	0.46613	0.407	0.44066	0.819043193617	0.81733	0.4568602928278277	0.45604	0.393845896875	0.40552	0.74187040329	0.73249	T	0.091248	0.38756	T	0.0180917	0.54123	T	-0.211789	0.53524	T	0.776132225990295	0.44811	D	0.937306	0.76632	D	0.39800397	0.60594	0.31813204	0.57784	0.39800397	0.60595	0.31813204	0.57783	-4.762	0.34145	T	.	.	0.488	0.64034	A	.;.	.;.	3.598405	0.50813	23.0	0.99753434833192467	0.84460	0.96737	0.70669	D	AEFBCI	0.714842	0.66719	D	0.453898313299991	0.64426	4.696711	0.551738673411231	0.71516	5.667089	0.999737535784796	0.42341	0.566229	0.32551	0	0.653731	0.59785	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.89	5.89	0.94758	5.016000	0.63806	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.812	0.92027	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	34	chr1	15567824	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.517;DP=758;ExcessHet=0;FS=2.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.225;SOR=0.987	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1369	18	0	1	0
chr1	15743030	15743030	C	T	exonic	TMEM82	.	nonsynonymous SNV	TMEM82:NM_001013641:exon3:c.C172T:p.R58W	.	416	1064	42	0	0	42	0.0193548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0061	0.0061901	0.0096	0.0015	0.0039	0.0079	0.0198	0.0098	0.0156	0.0159	0.0084863	1312	154602	rs41268336	0.0071	0.0071	0.0066	0.0075	0.0358	0.0069	0.0069	0.0318	0.0302	0.0016	0.0053	0.0304	0.0052	0.0190	0.0358	0.0055	0.0099	0.0128	0.0075	0.0075	0.0068	0.0083	0.0122	0.0072	0.0070	0.0097	0.0088	0.0013	0	0.0095	0.0346	0.0044	0.0179	0.0068	0.0079	0.0076	0.0122	0.076	0.34269	T	0.069	0.43913	T	0.011	0.15914	B	0.004	0.10090	B	0.416818	0.12923	N	0.700302	1	0.08975	N	1.225	0.30651	L	0.76	0.49919	T	-1.83	0.42957	N	0.198	0.21839	-1.0080	0.27541	T	0.068	0.27811	T	10	0.0028403401	0.00045	T	.	.	.	0.023	0.04649	.	.	0.162503812791	0.15892	0.35341392069255745	0.35255	0.0807614276133	0.09089	0.368093073368	0.20558	T	0.004755	0.04164	T	-0.535976	0.00354	T	-0.530993	0.19186	T	0.00778028463944119	0.00091	T	0.629237	0.24427	T	0.04985793	0.08919	0.04880238	0.07325	0.04985793	0.08918	0.04880238	0.07325	-4.335	0.28664	T	.	.	0.105	0.19235	B	.	.	1.933616	0.24560	16.44	0.98000223640494366	0.37468	0.04926	0.10681	N	AEFDBI	0.300197	0.40904	N	-0.899056620431752	0.10864	0.5213339	-0.978936530448902	0.10259	0.5155346	0.999397073029582	0.39470	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.664235	0.64389	0	.	.	4.18	-0.643	0.10906	-1.266000	0.02950	0.229000	0.16167	0.599000	0.40250	0.000000	0.06391	0.866000	0.27540	0.065000	0.16320	0.4184:0.3953:0.0:0.1863	4.422	0.10912	783	0.47268	.	.	.	.	.	rs41268336	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025706	0.000000	0.017711	0.061404	0.000000	0.034483	0.018293	0.026515	0.05263	3804.83	38	chr1	15743030	.	C	T	3804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.71;DP=944;ExcessHet=0.119;FS=2.426;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.79;SOR=0.559	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1647,0,1781	17	0	2	0
chr1	15765096	15765096	G	A	exonic	FBLIM1	.	nonsynonymous SNV	FBLIM1:NM_001024215:exon2:c.G113A:p.R38Q,FBLIM1:NM_001024216:exon3:c.G113A:p.R38Q,FBLIM1:NM_017556:exon3:c.G113A:p.R38Q,FBLIM1:NM_001350151:exon4:c.G113A:p.R38Q	.	405	1087	29	1	0	31	0.014059	.	.	.	1779949	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0021	0.00399361	0.0042	0.0012	0.0014	0.0073	0	0.0026	0.0045	0.0142	0.0037257	576	154602	rs146575757	0.0025	0.0025	0.0021	0.0029	0.0127	0.0024	0.0024	0.0121	0.0119	0.0010	0.0016	0.0096	0.0054	0.0002	0.0125	0.0015	0.0037	0.0127	0.0024	0.0024	0.0022	0.0025	0.0114	0.0022	0.0021	0.0090	0.0081	0.0011	0	0.0027	0.0075	0.0041	9.409e-05	0	0.0024	0.0028	0.0114	0.176	0.25560	T	0.426	0.16086	T	0.018	0.17786	B	0.003	0.11217	B	0.049034	0.23198	N	0.404553	1	0.08975	N	0.9	0.23182	L	0.62	0.62318	T	-1.49	0.46503	N	0.104	0.08925	-1.0223	0.22965	T	0.074	0.29928	T	10	0.0025619268	0.00039	T	.	.	.	0.072	0.21020	.	.	0.477298106951	0.47359	0.09068679261122307	0.09001	0.259966874952	0.28564	0.351580142975	0.18154	T	0.032639	0.22963	T	-0.462007	0.00955	T	-0.425387	0.30461	T	0.00265334127602166	0.00028	T	0.687731	0.32279	T	0.051397223	0.09433	0.025757005	0.00632	0.051397223	0.09433	0.025757005	0.00632	-3.985	0.24965	T	.	.	0.073	0.09094	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.286258	0.16869	12.81	0.98557913723695179	0.42935	0.10035	0.15650	N	AEFDBI	0.084200	0.17062	N	-0.906550316843491	0.10687	0.5119588	-0.812082696519917	0.14204	0.7409243	0.999968288589811	0.48965	0.722319	0.85440	0	0.59043	0.45803	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.84	2.94	0.33188	1.012000	0.29527	0.698000	0.20823	-0.713000	0.03919	0.009000	0.18154	0.001000	0.17328	0.030000	0.13115	0.1801:0.1591:0.4965:0.1643	1.865	0.03002	728	0.54609	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.008772	0.000000	0.008621	0.003049	0.018939	0.02632	1415.33	34	chr1	15765096	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=732;ExcessHet=0;FS=3.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.063;SOR=0.407	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1429,0,965	18	0	1	0
chr1	15928400	15928400	G	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.G2160C:p.R720S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0155571381374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.999929	0.51308	D	2.135	0.59519	M	2.81	0.10975	T	-0.76	0.21215	N	0.555	0.58031	-1.0807	0.07214	T	0.037	0.15813	T	9	0.40737203	0.55986	T	0.015557	0.36360	T	0.143	0.38195	0.267	0.21418	0.332276917938	0.32835	0.6588047463688055	0.65817	0.9082949663	0.70941	0.737208008766	0.72562	T	0.218104	0.58073	T	-0.0800544	0.39705	T	-0.352769	0.38889	T	0.776460054183397	0.44831	D	0.909209	0.67884	D	0.17343657	0.38092	0.1952637	0.43194	0.17343657	0.38091	0.1952637	0.43193	-3.967	0.23308	T	.	.	0.856	0.80112	P	.	.	3.556431	0.50018	22.9	0.98532878557464154	0.42620	0.90844	0.52368	D	AEFGBCI	0.382983	0.46466	N	0.108119008798999	0.46841	2.918415	0.0717777386353398	0.43136	2.62167	0.0113089504048363	0.12164	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	1.92	0.24912	1.485000	0.35127	2.565000	0.33334	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.4124:0.0:0.5876:0.0	8.386	0.31662	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	147.33	34	chr1	15928400	.	G	C	147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-8.291;DP=1293;ExcessHet=0;FS=195.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=4.23;SOR=10.035	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	18	0	1	0
chr1	15946303	15946303	G	A	exonic	ZBTB17	.	nonsynonymous SNV	ZBTB17:NM_001242884:exon4:c.C140T:p.P47L	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00927519163247	.	0.000399361	0.0004	9.636e-05	0	0	0	4.529e-05	0.0011	0.0029	0.0003493	54	154602	rs534144339	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0026	0	0.0001	0	2.526e-05	0	0.0009	2.886e-05	0.0003	0.0031	0.0001	0.0001	0.0001	9.394e-05	0.0023	7.569e-05	6.275e-05	0.0013	0.0010	4.809e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0023	0.225	0.18626	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.999906	0.27365	N	.	.	.	3.05	0.08721	T	-0.38	0.13418	N	0.321	0.36148	-0.9336	0.43605	T	0.011	0.03903	T	8	0.006472975	0.00146	T	0.009275	0.24343	T	0.035	0.08770	0.189	0.09907	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.721847	0.00027	T	-0.815207	0.01552	T	0.00973580716827649	0.00127	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-3.699	0.19304	T	.	.	0.165	0.36455	B	.	.	1.797389	0.22847	15.78	0.77629425384889073	0.11956	0.18228	0.20173	N	AEFDBCI	0.066029	0.12908	N	-0.856257650193794	0.11897	0.5767326	-0.797608188024473	0.14554	0.7610319	0.999989075877565	0.51787	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	3.68	1.76	0.23776	0.740000	0.25856	0.621000	0.20131	0.676000	0.76740	0.279000	0.25131	0.012000	0.20211	0.996000	0.76049	0.2635:0.0:0.7365:0.0	5.490	0.16063	410	0.82135	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2617.83	33	chr1	15946303	.	G	A	2617.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.148;DP=789;ExcessHet=0.119;FS=0.544;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.18;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1202	17	0	2	0
chr1	16023922	16023922	G	T	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001042704:exon3:c.G223T:p.V75F,CLCNKA:NM_001257139:exon3:c.G223T:p.V75F,CLCNKA:NM_004070:exon3:c.G223T:p.V75F	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1505	17	0	0	17	0.00561612	.	.	.	2805829	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.420	.	0.0002	0.00379393	0.0020	0	0.0002	0	0	0.0002	0.0011	0.0137	0.0017594	272	154602	rs200509489	0.0008	0.0008	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0	0.0002	0.0008	0	0	0.0023	6.835e-05	0.0010	0.0120	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0082	0.0074	0	0	0	0.0009	0	0	0	0.0001	0	0.0106	0.299	0.56456	T	0.498	0.50809	T	0.401	0.34877	B	0.211	0.37346	B	0.346608	0.13881	N	0.688144	0.999883	0.19853	N	2.105	0.58435	M	-3.11	0.94114	D	-1.5	0.36586	N	0.629	0.67045	-0.1407	0.79147	T	0.694	0.89430	D	10	0.01260379	0.00270	T	.	.	.	0.420	0.72930	.	.	0.853538057988	0.85212	0.45529462260659076	0.45447	0.471130030195	0.46381	0.35739594698	0.19005	T	0.115178	0.43357	T	-0.191541	0.22032	T	-0.0368813	0.67911	D	0.0617978158064845	0.07450	T	0.533147	0.17760	T	0.10060977	0.23757	0.0817704	0.18610	0.09987057	0.23575	0.106501006	0.25621	-4.093	0.25187	T	0.1606331514926354	0.19610	0.114	0.32541	B	.;.;.	.;.;.	2.287373	0.29252	18.06	0.89978184302987896	0.19272	0.06806	0.12830	N	AEFGBI	0.064424	0.12507	N	-0.728649471011165	0.15220	0.7651172	-0.868236933851735	0.12851	0.6633935	0.786373433937458	0.23937	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.586402	0.36253	0	.	.	3.37	1.37	0.21200	2.517000	0.45189	3.249000	0.37015	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.2419:0.2108:0.5473:0.0	3.645	0.07719	438	0.80235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3512.83	36	chr1	16023922	.	G	T	3512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.189;DP=929;ExcessHet=0.119;FS=0.873;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.34;SOR=0.762	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1417	17	0	2	0
chr1	16030003	16030003	G	A	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon13:c.G1207A:p.V403I,CLCNKA:NM_001042704:exon14:c.G1336A:p.V446I,CLCNKA:NM_004070:exon14:c.G1336A:p.V446I	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2216137	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0302117532495	.	0.000399361	8.275e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs552991562	3.29e-05	3.352e-05	2.319e-05	4.27e-05	0.0004	2.548e-05	2.253e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.081e-05	4.974e-05	0.0004	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0004	8.14e-06	5.14e-06	7.301e-05	3.033e-05	2.406e-05	0	0	0	0	0	0	1.471e-05	0	0.0004	0.189	0.22312	T	0.384	0.15794	T	0.006	0.13644	B	0.005	0.11217	B	0.459408	0.04861	N	1.282450	1	0.08975	N	1.32	0.33002	L	-3.32	0.93882	D	-0.27	0.11366	N	0.122	0.14196	-0.3101	0.74702	T	0.505	0.81348	D	10	0.040905446	0.02700	T	0.030212	0.52566	D	0.121	0.33580	0.365	0.37199	0.617224619168	0.61412	0.20823938618863844	0.20739	0.192320976914	0.21557	0.295115828514	0.09675	T	0.278619	0.65128	T	-0.341084	0.05313	T	-0.405754	0.32717	T	0.0481302995570745	0.05167	T	0.661834	0.28166	T	0.038911868	0.05276	0.041275356	0.04654	0.038911868	0.05275	0.041275356	0.04653	-4.57	0.32509	T	0.2459380437156849	0.33309	0.074	0.05800	B	.;.;.	.;.;.	-1.110624	0.00628	0.017	0.81422711343417076	0.13678	0.05270	0.11110	N	AEFDBI	0.064041	0.12412	N	-1.44482305621343	0.02258	0.09950224	-1.55960627035426	0.01910	0.0871456	0.0216397650966684	0.13365	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.3	-5.59	0.02305	-2.657000	0.00926	-4.347000	0.02204	-2.999000	0.00142	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1473:0.5631:0.1491:0.1404	4.435	0.10968	437	0.80299	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1740.33	34	chr1	16030003	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=1.03;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr1	16030622	16030622	A	G	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon14:c.A1441G:p.I481V,CLCNKA:NM_001042704:exon15:c.A1570G:p.I524V,CLCNKA:NM_004070:exon15:c.A1570G:p.I524V	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0565015306223	.	0.000399361	0.0002	0.0012	0.0002	0.0002	0	0.0002	0	0	0.0002781	43	154602	rs548924213	6.367e-05	7.593e-05	6.403e-05	6.331e-05	0.0002	5.299e-05	4.915e-05	6.512e-05	5.11e-05	8.962e-05	4.473e-05	0	0.0002	0	0	6.835e-05	4.969e-05	3.478e-05	7.878e-05	7.874e-05	5.138e-05	0.0001	0.0002	4.493e-05	3.509e-05	6.266e-05	4.288e-05	0.0001	0.0011	6.535e-05	0	0.0002	0	0	4.41e-05	0	0	0.048	0.40068	D	0.114	0.36901	T	0.002	0.09854	B	0.004	0.10090	B	0.000820	0.41658	D	0.250822	0.981082	0.39737	D	3.05	0.86762	M	-3.18	0.93111	D	-0.87	0.23590	N	0.524	0.58117	0.521	0.90842	D	0.773	0.92269	D	10	0.15552649	0.29312	T	0.056502	0.66628	D	0.488	0.77592	.	.	0.850132985281	0.84869	0.392918419042278	0.39206	0.196491442054	0.22011	0.488922178745	0.37288	T	0.160553	0.50445	T	0.062389	0.59913	T	-0.148159	0.59406	T	0.0829352622936592	0.10358	T	0.687731	0.31558	T	0.08154605	0.18743	0.095286965	0.22592	0.08154605	0.18743	0.095286965	0.22591	-9.196	0.69070	D	0.5570465684467326	0.62510	0.120	0.26794	B	.;.;.	.;.;.	3.101049	0.41791	21.4	0.97659792987809646	0.35189	0.95998	0.67072	D	AEFBI	0.576720	0.57860	D	-0.13954348510081	0.35681	2.05259	-0.111942913265401	0.34907	2.013363	0.00638951631034398	0.11204	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	4.663000	0.61226	11.073000	0.85618	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	0.8932:0.0:0.1068:0.0	7.013	0.24050	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001362	0.005882	0.000000	0.000000	0.000000	0.003788	0.02632	1597.33	152	chr1	16030622	.	A	G	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.635;DP=797;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.62;MQRankSum=-6.85;QD=10.51;ReadPosRankSum=-0.809;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1264	18	0	1	0
chr1	16044514	16044514	C	T	exonic	CLCNKB	.	nonsynonymous SNV	CLCNKB:NM_000085:exon2:c.C22T:p.R8C	Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.601	0.399928303379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985164800	1.445e-05	1.847e-05	1.641e-05	1.247e-05	0.0003	9.29e-06	7.88e-06	6.101e-05	2.525e-05	5.981e-05	0	0	0	0	0.0003	1.263e-05	4.991e-05	0	4.601e-05	4.596e-05	1.285e-05	8.074e-05	6.545e-05	2.11e-05	1.527e-05	1.972e-05	1.125e-05	4.828e-05	0	6.545e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.667	0.53020	P	0.562376	0.11323	N	0.786789	0.698081	0.33393	D	2.9	0.83903	M	-1.93	0.84842	D	-4.11	0.74980	D	0.5	0.58202	0.193	0.85785	D	0.609	0.86140	D	10	0.70203215	0.72504	D	0.399928	0.93375	D	0.601	0.84237	.	.	0.900686038383	0.89969	0.645170761240476	0.64452	0.0391847313903	0.04173	.	.	.	0.335784	0.70537	T	-0.0486763	0.44648	T	-0.00171996	0.70225	D	0.734918534755707	0.42466	D	0.950205	0.80929	D	0.35862112	0.57731	0.2360207	0.48862	0.35862112	0.57731	0.2360207	0.48861	-6.259	0.48397	T	.	.	0.254	0.48847	B	.;.	.;.	4.531022	0.71134	25.6	0.99880408867616954	0.95653	0.75964	0.37223	D	AEFDBI	0.242516	0.36396	N	0.339240421968072	0.58174	3.988193	0.263518685103978	0.53424	3.511277	0.0312808171359642	0.13992	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.23	3.22	0.36041	1.987000	0.40309	2.378000	0.32469	0.573000	0.29008	0.984000	0.35821	0.152000	0.23188	0.661000	0.32996	0.2263:0.7737:0.0:0.0	8.726	0.33630	433	0.80627	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	935.33	55	chr1	16044514	.	C	T	935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=974;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-2.026;SOR=0.83	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,110,1454	18	0	1	0
chr1	16138424	16138424	G	A	exonic	EPHA2	.	nonsynonymous SNV	EPHA2:NM_001329090:exon3:c.C668T:p.S223L,EPHA2:NM_004431:exon4:c.C830T:p.S277L	Cataract 6, multiple types, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	278104	not_provided|Cataract_6_multiple_types	MedGen:C3661900|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	0.0422946669567	0.0035	0.000798722	0.0032	0.0006	0.0023	0	0.0019	0.0047	0.0057	0.0016	0.0035122	543	154602	rs35484156	0.0055	0.0055	0.0057	0.0054	0.0067	0.0054	0.0054	0.0066	0.0065	0.0010	0.0014	0.0003	2.519e-05	0.0025	0.0019	0.0067	0.0037	0.0019	0.0030	0.0030	0.0034	0.0026	0.0054	0.0028	0.0027	0.0049	0.0048	0.0013	0	0.0007	0	0.0002	0.0017	0	0.0054	0.0014	0.0014	0.075	0.34444	T	0.158	0.31629	T	0.056	0.22806	B	0.005	0.11217	B	0.150446	0.17986	N	0.468333	0.99995	0.19072	N	1.545	0.39105	L	-0.08	0.63911	T	-2.13	0.48354	N	0.216	0.24135	-1.0071	0.27819	T	0.089	0.34408	T	10	0.007756233	0.00176	T	0.042295	0.60388	D	0.059	0.16972	.	.	0.463873965229	0.46014	0.5229146708421177	0.52214	0.118878650778	0.13383	0.342571347952	0.16823	T	0.310062	0.68205	T	-0.41346	0.01885	T	-0.358721	0.38201	T	0.0134803013482134	0.00246	T	0.720928	0.33404	T	0.18815087	0.40301	0.1282235	0.30853	0.18815087	0.40301	0.1282235	0.30852	-4.787	0.34440	T	.	.	0.074	0.05145	B	.	.	1.319686	0.17239	13.04	0.99444088862765156	0.64921	0.37266	0.25723	N	AEFDGBCI	0.232661	0.35570	N	-0.41429374746204	0.24967	1.35195	-0.385902955012226	0.25416	1.397611	0.999999988338729	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	4.17	0.48303	0.396000	0.20592	2.933000	0.35626	-0.123000	0.13640	0.000000	0.06391	0.998000	0.33993	0.701000	0.34172	0.0:0.1716:0.651:0.1774	8.331	0.31348	412	0.82007	Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1276.33	37	chr1	16138424	.	G	A	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.28;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1290,0,1661	18	0	1	0
chr1	16202497	16202497	C	A	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon13:c.G1985T:p.G662V	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.132828007127	.	0.000399361	9.973e-05	0	8.675e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs201415943	8.893e-05	8.893e-05	6.806e-05	0.0001	0.0019	7.622e-05	7.167e-05	0.0011	0.0008	0	6.709e-05	3.826e-05	0	0	0.0019	6.025e-05	0.0001	0.0005	7.876e-05	7.873e-05	7.706e-05	8.053e-05	0.0002	4.492e-05	3.509e-05	7.908e-05	5.994e-05	2.405e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.014	0.53172	D	0.011	0.64786	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.06	0.63568	T	-8.06	0.96621	D	0.332	0.37301	-0.3064	0.74806	T	0.372	0.73076	T	10	0.19454846	0.35270	T	0.132828	0.81518	D	0.359	0.67962	.	.	0.765010141717	0.76287	0.6904994707378325	0.68989	1.03404003481	0.75517	0.696405172348	0.66625	T	0.028541	0.20653	T	-0.207163	0.19781	T	-0.224833	0.52270	T	0.894906461238861	0.54637	D	0.90041	0.65400	D	0.830834	0.85960	0.70763934	0.82761	0.830834	0.85962	0.70763934	0.82762	-13.923	0.92804	D	.	.	0.309	0.53709	B	.	.	5.001515	0.82994	27.9	0.99765432124054265	0.85417	0.96881	0.71447	D	AEFDBI	0.700755	0.65767	D	0.664400685243365	0.77304	6.649037	0.637125038177096	0.77655	6.721392	0.999999999630165	0.74766	0.631515	0.41029	0	0.659464	0.62310	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.81	4.81	0.61401	3.217000	0.50886	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	13.367	0.60130	212	0.91760	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1845.33	43	chr1	16202497	.	C	A	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=957;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.677;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	18	0	1	0
chr1	16205994	16205994	C	T	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon8:c.G1388A:p.R463H	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0671602585065	.	0.000399361	0.0007	0	0.0004	0	0.0055	0.0003	0	0.0020	0.0004204	65	154602	rs201371795	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	8.969e-05	0.0002	0	2.527e-05	0.0037	0.0010	0.0002	0.0004	0.0014	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0.0026	0	0.0002	0.0009	0.0012	0.133	0.29288	T	0.113	0.36901	T	0.989	0.62824	D	0.846	0.60472	P	0.000003	0.62929	D	0.000000	0.999449	0.47080	D	2.655	0.77738	M	1.52	0.62918	T	-4.01	0.74193	D	0.599	0.61764	-0.2574	0.76158	T	0.383	0.73936	T	10	0.012451649	0.00268	T	0.06716	0.70087	D	0.226	0.52472	.	.	0.769486800032	0.76738	0.5544849050595965	0.55375	1.02818934709	0.75339	0.684120178223	0.64861	T	0.07993	0.36243	T	-0.205775	0.19977	T	-0.0984364	0.63519	T	0.176362899980166	0.19003	T	0.924008	0.76468	D	0.34864554	0.56961	0.33399162	0.59230	0.34864554	0.56961	0.33399162	0.59229	-10.708	0.78032	D	.	.	0.161	0.45906	B	.;.	.;.	5.473219	0.91297	32	0.99872357105528553	0.94989	0.85997	0.45199	D	AEFDGBCIJ	0.511407	0.54005	D	0.546880174432717	0.69891	5.422053	0.49847281089448	0.67887	5.144794	0.999999999999578	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.26897	0.05253	2	0.605231	0.38476	0	.	.	4.56	4.56	0.55644	1.689000	0.37319	7.680000	0.65243	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	14.828	0.69757	199	0.92292	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	503.33	35	chr1	16205994	.	C	T	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=692;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.048;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	18	0	1	0
chr1	16207718	16207718	G	T	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon4:c.C754A:p.P252T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0308913050316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.144	0.33109	T	0.191	0.29411	B	0.1	0.30674	B	0.000483	0.00618	N	16.942600	1	0.08975	N	2.19	0.61577	M	-0.61	0.71779	T	-2.32	0.51478	N	0.135	0.13198	-0.9314	0.43933	T	0.272	0.64380	T	10	0.131641	0.25054	T	0.030891	0.53099	D	0.076	0.22200	0.274	0.22528	0.677873887768	0.67513	0.6203819765472122	0.61971	0.527398812043	0.50347	0.327657163143	0.14581	T	0.006198	0.05637	T	-0.135468	0.30615	T	-0.432367	0.29665	T	0.245755821602851	0.22681	T	0.353365	0.07952	T	0.050499994	0.09131	0.04682699	0.06612	0.050499994	0.09131	0.04682699	0.06611	-4.02	0.24102	T	.	.	0.069	0.03026	B	.	.	1.347479	0.17547	13.23	0.98551960276847506	0.42858	0.13260	0.17755	N	ALL	0.096663	0.19510	N	-0.812224720461571	0.12998	0.6372921	-0.844071386746544	0.13430	0.6966493	0.99999999962794	0.74766	0.714207	0.82060	0	0.475579	0.06741	0	0.648423	0.49468	0	0.444512	0.06955	0	.	.	5.26	3.37	0.37692	1.033000	0.29798	1.715000	0.28221	0.676000	0.76740	0.026000	0.20160	0.969000	0.29651	0.002000	0.04165	0.0942:0.1954:0.7104:0.0	7.139	0.24723	198	0.92335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1392.33	34	chr1	16207718	.	G	T	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.052;DP=1120;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.637;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	18	0	1	0
chr1	16232262	16232262	C	T	exonic	CPLANE2	.	nonsynonymous SNV	CPLANE2:NM_030907:exon5:c.G563A:p.R188Q	.	423	1092	5	2	0	9	0.00410397	.	.	.	3245560	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0387962352183	0.0002	.	0.0002	0	0.0001	0	0	0.0003	0	6.898e-05	0.0001294	20	154602	rs201038756	0.0001	0.0001	0.0001	0.0001	0.0115	0.0001	0.0001	0.0092	0.0084	0.0001	6.749e-05	0.0007	0	1.988e-05	0.0115	7.378e-05	0.0003	0.0001	0.0001	0.0001	8.992e-05	0.0001	0.0002	6.505e-05	5.318e-05	9.047e-05	7.012e-05	0	0	0.0001	0	0	0	0.0068	0.0002	0	0.0002	0.435	0.09401	T	0.597	0.08025	T	0.025	0.19245	B	0.003	0.08700	B	0.002246	0.36929	N	0.291061	0.615028	0.32655	D	.	.	.	-0.77	0.73523	T	0.07	0.06138	N	0.175	0.18784	-0.8396	0.52673	T	0.171	0.51213	T	10	0.039380014	0.02424	T	0.038796	0.58435	D	0.063	0.18251	.	.	0.494700469353	0.49104	0.40507095759614803	0.40423	0.192320976914	0.21557	0.536766529083	0.43989	T	0.166332	0.51253	T	-0.298929	0.08761	T	-0.397868	0.33633	T	0.0417486069947913	0.04010	T	0.731327	0.34690	T	0.05651136	0.11129	0.040681712	0.04453	0.05651136	0.11128	0.040681712	0.04452	-4.072	0.24876	T	.	.	0.080	0.07745	B	.	.	2.473790	0.31887	18.88	0.80862647416376165	0.13405	0.72745	0.35597	D	AEFDBHCI	0.091673	0.18567	N	-0.60748373470253	0.18718	0.9740715	-0.471112080432602	0.22953	1.249333	0.999981551948606	0.51787	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.47	4.56	0.55644	1.418000	0.34389	2.695000	0.34117	0.599000	0.40250	0.681000	0.28448	0.993000	0.31925	0.033000	0.13494	0.0:0.8219:0.0:0.1781	8.199	0.30574	199	0.92292	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005051	0.009511	0.035088	0.000000	0.025862	0.000000	0.000000	0.02632	1450.33	34	chr1	16232262	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=754;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.9;SOR=0.503	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr1	16251173	16251173	C	T	exonic	FBXO42	.	nonsynonymous SNV	FBXO42:NM_018994:exon10:c.G1651A:p.V551I	.	.	.	.	.	.	.	.	.	.	.	2197283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0231327741636	7.7e-05	.	3.313e-05	0	0	0.0001	0	4.527e-05	0	0	2.59e-05	4	154602	rs143311144	1.3e-05	1.3e-05	1.497e-05	1.1e-05	8.961e-05	8.31e-06	6.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	7.557e-05	1.873e-05	0	7.194e-06	1.656e-05	3.478e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	7.237e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	4.409e-05	0	0	0.005	0.91255	D	0.441	0.13290	T	0.997	0.70673	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	3.48	0.59583	T	-0.27	0.12472	N	0.355	0.39659	-0.6714	0.61765	T	0.255	0.62552	T	10	0.22373515	0.39159	T	0.023133	0.46073	T	0.142	0.37995	.	.	0.0675242888579	0.06100	0.2287317320686603	0.22788	0.79447883007	0.65982	0.572790324688	0.49072	T	0.01423	0.14390	T	-0.146822	0.28810	T	-0.222975	0.52448	T	0.321724250278226	0.25892	T	0.922308	0.71764	D	0.141356	0.32574	0.12592307	0.30334	0.141356	0.32574	0.12592307	0.30333	-4.53	0.31279	T	.	.	0.141	0.36295	B	.;.;.	.;.;.	4.505368	0.70502	25.5	0.99833416894392202	0.91456	0.98695	0.85684	D	AEFBI	0.705286	0.66072	D	0.634044628007109	0.75340	6.288609	0.682724594013978	0.81068	7.440995	0.999999999995337	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	7.071000	0.76460	6.035000	0.52961	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.767	0.91840	199	0.92292	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1864.33	33	chr1	16251173	.	C	T	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=753;ExcessHet=0;FS=5.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.89;SOR=1.146	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:322,197:519:99:.:.:5064,0,9273:.	1	0	18	0
chr1	16563961	16563961	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	389	1131	2	0	0	2	0.000883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0007	0.0003	0.0004	0	0.0015	0.0008	0	0.0005	0.0005563	86	154602	rs369107101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	135.33	662	chr1	16563961	.	T	G	135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.092;DP=11146;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=1.47;QD=0.21;ReadPosRankSum=-0.594;SOR=0.81	GT:AD:DP:GQ:PL	0/0:524,0:524:99:0,120,1800	18	0	1	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:443,276:719:99:.:.:6239,0,12464:.	1	0	18	0
chr1	16563991	16563991	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs3863781	0	1.983e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1616.33	662	chr1	16563991	.	T	C	1616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=14379;ExcessHet=0;FS=10.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.06;MQRankSum=-21.87;QD=2.9;ReadPosRankSum=-0.837;SOR=1.768	GT:AD:DP:GQ:PL	0/0:703,0:703:99:0,120,1800	18	0	1	0
chr1	16563992	16563992	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00307741360861	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs3863782	0	2.139e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.11837649	0.22378	T	0.003077	0.06666	T	.	.	.	.	0.491729458163	0.48807	0.016383950542376322	0.01594	.	.	0.511291742325	0.40403	T	.	.	.	-0.501672	0.00560	T	-0.958394	0.00237	T	.	.	.	0.550145	0.18957	T	.	.	.	.	.	.	.	.	-2.997	0.10149	T	.	.	0.052	0.00220	B	.	.	-0.660805	0.01414	0.083	0.30337347858734137	0.01654	0.00106	0.00678	N	AEFDBCIJ	0.012013	0.00120	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-1.931000	0.01647	-12.166000	0.00545	-0.473000	0.05086	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1676.33	662	chr1	16563992	.	C	A	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.34;DP=14381;ExcessHet=0;FS=12.091;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.12;MQRankSum=-21.78;QD=3.03;ReadPosRankSum=-0.673;SOR=1.738	GT:AD:DP:GQ:PL	0/0:703,0:703:99:0,120,1800	18	0	1	0
chr1	16564005	16564005	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	385	1131	6	0	0	6	0.0026455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00348268277819	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3981558	0	1.846e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	0.05718124	0.06529	T	0.003483	0.07878	T	.	.	.	.	0.0138822411134	0.00435	0.005009461664648705	0.00472	.	.	0.567959308624	0.48388	T	.	.	.	-0.525271	0.00410	T	-0.992292	0.00154	T	.	.	.	0.510449	0.16283	T	.	.	.	.	.	.	.	.	-4.047	0.24504	T	.	.	0.069	0.03266	B	.	.	-0.969870	0.00815	0.027	0.33696564739189572	0.02021	0.00193	0.01117	N	AEFDBHCIJ	0.018569	0.00573	N	.	.	.	.	.	.	0.00174573892706999	0.08839	0.383005	0.05895	0	0.063085	0.00849	2	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	-0.771	0.10448	-2.074000	0.01463	-4.208000	0.02281	-2.599000	0.00235	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1257.33	662	chr1	16564005	.	G	A	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=10.3;DP=14419;ExcessHet=0;FS=8.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.99;MQRankSum=-21.42;QD=2.16;ReadPosRankSum=-1.182;SOR=1.479	GT:AD:DP:GQ:PL	0/0:703,0:703:99:0,120,1800	18	0	1	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:559,139:698:99:2251,0,18938	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/0:504,0:504:99:0,120,1800	13	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:375,131:506:99:.:.:2727,0,12848:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:308,179:487:99:4389,0,9974	0	0	19	0
chr1	16564154	16564154	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	381	1097	44	0	0	44	0.0196604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0132	0.0050	0.0130	0	0.0075	0.0178	0.0222	0.0091	0.0106726	1650	154602	rs373123987	0	1.583e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.00440526	0.00090	T	.	.	.	.	.	.	.	.	.	0.02145031412142742	0.02098	.	.	0.448394954205	0.31725	T	.	.	.	-0.73495	0.00022	T	-0.891861	0.00562	T	.	.	.	0.952705	0.81989	D	.	.	.	.	.	.	.	.	-6.203	0.47947	T	.	.	0.213	0.44174	B	.;.	.;.	1.768159	0.22489	15.64	0.61310327108963714	0.06677	0.00662	0.02865	N	AEFBCI	0.027124	0.02158	N	.	.	.	.	.	.	8.32463719101556E-5	0.04703	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-1.13	0.09274	-1.769000	0.01890	-1.955000	0.04439	0.349000	0.19912	0.006000	0.17386	0.000000	0.08366	0.010000	0.09038	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030440	0.031250	0.040761	0.045833	0.000000	0.034483	0.034965	0.004000	0.05263	841.83	508	chr1	16564154	.	G	A	841.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.73;DP=8552;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.11;MQRankSum=-1.902;QD=0.82;ReadPosRankSum=-0.737;SOR=0.786	GT:AD:DP:GQ:PL	0/0:373,0:373:99:0,120,1800	17	0	2	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.07895	3394.79	120	chr1	16564186	.	C	G	3394.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.41;DP=4142;ExcessHet=0.3672;FS=1.765;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=51.95;MQRankSum=3.73;QD=2.98;ReadPosRankSum=2.19;SOR=0.845	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	16	0	3	0
chr1	16564893	16564898	CTTCCC	-	exonic	NBPF1	.	unknown	UNKNOWN	.	336	1181	5	0	0	5	0.00211238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330496581	0.0003	0.0004	0.0003	0.0002	0.0027	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0004	0	0.0004	0.0027	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0041	0	0	.	.	0	0	0.0041	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	212.29	232	chr1	16564892	.	TCTTCCC	T	212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=3987;ExcessHet=0;FS=1.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.21;MQRankSum=-1.55;QD=0.71;ReadPosRankSum=1.08;SOR=0.913	GT:AD:DP:GQ:PL	0/0:150,0:150:99:0,120,1800	18	0	1	0
chr1	16565743	16565743	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	371	1143	8	0	0	8	0.00348736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000424155916811	.	.	0.0047	0.0002	0.0042	0.0432	0.0068	0.0018	0.0041	0.0041	3.84e-05	1	26028	rs751463241	0.0008	0.0065	0.0009	0.0008	0.0099	0.0008	0.0007	0.0089	0.0085	4.669e-05	0.0005	0.0008	0.0099	0.0011	0.0007	0.0004	0.0008	0.0006	0.0015	0.0077	0.0013	0.0017	0.0311	0.0013	0.0013	0.0263	0.0245	0.0001	0.0011	0.0015	0.0012	0.0311	0.0027	0	0.0006	0	0.0036	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.004956335	0.00106	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.03683685617969525	0.03630	.	.	0.513144373894	0.40661	T	.	.	.	-0.536241	0.00353	T	-1.00805	0.00124	T	.	.	.	0.671933	0.29067	T	.	.	.	.	.	.	.	.	-6.609	0.51122	T	.	.	0.153	0.34116	B	.;.	.;.	-1.008665	0.00759	0.024	0.26712109848767318	0.01292	0.00675	0.02904	N	AEFDBCI	0.027883	0.02356	N	.	.	.	.	.	.	0.937545910733759	0.27302	0.117366	0.03044	2	0.127614	0.03486	1	0.117015	0.03184	2	0.195052	0.04227	1	.	.	0.904	-1.56	0.08080	-1.657000	0.02081	-20.000000	0.00162	-3.794000	0.00059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4808:0.0:0.5192	4.006	0.09089	492	0.76569	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006857	0.000000	0.005464	0.000000	0.000000	0.000000	0.010345	0.020492	0.02632	243.33	112	chr1	16565743	.	C	T	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.193;DP=3073;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.34;MQRankSum=-0.534;QD=0.4;ReadPosRankSum=-1.2;SOR=0.643	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	18	0	1	0
chr1	16567194	16567194	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	320	1198	4	0	0	4	0.00166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00201606055448	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0006	3.84e-05	1	26028	rs201227350	1.521e-05	9.119e-05	4.614e-06	2.464e-05	4.432e-05	6.32e-06	5.06e-06	7.35e-06	2.75e-06	0	0	0	0	0	0	1.432e-05	3.826e-05	4.432e-05	0.0002	0.0008	0.0001	0.0002	0.0004	9.886e-05	8.248e-05	0.0002	0.0002	0.0004	0	0.0003	0	0	0	0	1.69e-05	0	0	.	.	.	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.13055	.	.	.	.	.	.	.	0.026126415	0.00787	T	0.002016	0.03642	T	.	.	.	.	0.0482279557977	0.04254	0.0176024254427243	0.01715	.	.	0.494684576988	0.38088	T	.	.	.	-0.115579	0.33850	T	-0.403797	0.32943	T	.	.	.	0.524448	0.19565	T	.	.	.	.	.	.	.	.	-4.296	0.28121	T	.	.	0.184	0.40015	B	.;.	.;.	1.724927	0.21960	15.42	0.34755023133612578	0.02143	0.03879	0.09247	N	AEFDBHCI	0.027977	0.02381	N	.	.	.	.	.	.	0.475729541921844	0.20744	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	0.142000	0.15917	-7.866000	0.01071	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009004	0.035354	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1509.83	169	chr1	16567194	.	C	T	1509.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=4028;ExcessHet=0.119;FS=21.137;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.86;MQRankSum=-16.71;QD=1.57;ReadPosRankSum=-2.761;SOR=2.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	17	0	2	0
chr1	16567196	16567196	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	321	1196	5	0	0	5	0.00208594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00170016907422	.	.	0.0015	0.0002	0.0010	0	0.0017	0.0021	0.0022	0.0007	3.84e-05	1	26028	rs4098127	1.514e-05	9.171e-05	9.186e-06	2.045e-05	2.216e-05	6.29e-06	4.05e-06	6.21e-06	3.79e-06	0	0	0	0	0	0	1.78e-05	3.811e-05	2.216e-05	0.0001	0.0008	0.0001	0.0001	0.0004	8.06e-05	6.639e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0	1.688e-05	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.020040601	0.00456	T	0.002	0.02830	T	.	.	.	.	0.242244723065	0.23846	0.017449181371216604	0.01699	.	.	0.515456080437	0.40988	T	.	.	.	-0.574816	0.00207	T	-1.06346	0.00053	T	.	.	.	0.754824	0.37774	T	.	.	.	.	.	.	.	.	1.678	0.00070	T	.	.	0.052	0.00452	B	.;.	.;.	-0.308216	0.02582	0.317	0.42360340498844201	0.03117	0.00419	0.02071	N	AEFDBHCI	0.013538	0.00184	N	.	.	.	.	.	.	0.991563087142619	0.32531	0.383005	0.05895	0	0.127614	0.03486	1	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-1.391000	0.02631	-8.709000	0.00926	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005826	0.020202	0.002717	0.008197	0.000000	0.000000	0.000000	0.000000	0.05263	1537.83	169	chr1	16567196	.	C	A	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=4034;ExcessHet=0.119;FS=21.18;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.98;MQRankSum=-16.71;QD=1.6;ReadPosRankSum=-2.299;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	17	0	2	0
chr1	16567206	16567206	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	322	1118	82	0	0	82	0.0353753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0160	0.0048	0.0096	0.0272	0.0122	0.0165	0.0178	0.0214	0.0128912	1993	154602	rs3927566	0.0011	0.0037	0.0011	0.0011	0.0053	0.0010	0.0010	0.0029	0.0022	0.0004	0.0006	0.0058	0.0011	0.0004	0.0053	0.0010	0.0017	0.0009	0.0003	0.0015	0.0004	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0003	0.0010	0.0007	0.0004	0	0.0004	0.0011	0.0003	.	.	.	0.141	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0049045384	0.00105	T	.	.	.	.	.	.	.	.	.	0.015363255238990382	0.01492	.	.	0.514282226562	0.40822	T	.	.	.	-0.544364	0.00315	T	-0.631423	0.10307	T	.	.	.	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.127	0.30318	B	.;.	.;.	1.264825	0.16631	12.66	0.42851535371219329	0.03186	0.01238	0.04371	N	AEFDBHCI	0.047698	0.08058	N	.	.	.	.	.	.	0.559270903784427	0.21400	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-0.685000	0.05269	-1.776000	0.04747	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033898	0.020202	0.027174	0.012295	0.050000	0.034483	0.057927	0.049618	0.07895	2243.79	169	chr1	16567206	.	G	A	2243.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.29;DP=5661;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.11;MQRankSum=-4.446;QD=0.95;ReadPosRankSum=-0.587;SOR=0.778	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	16	0	3	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:682,248:930:99:4754,0,18164	12	0	7	0
chr1	16567241	16567241	G	T	exonic	NBPF1	.	unknown	UNKNOWN	.	333	1186	3	0	0	3	0.00126316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00194169036658	.	.	0.0013	0.0016	0.0008	0	0.0018	0.0015	0.0011	0.0008	3.84e-05	1	26028	rs4111893	1.477e-05	0.0003	8.959e-06	1.996e-05	2.077e-05	6.14e-06	3.95e-06	8.46e-06	5.9e-06	0	0	0	0	3.138e-05	0	2.077e-05	0	0	0.0001	0.0006	0.0001	0.0001	0.0003	6.688e-05	5.419e-05	7.573e-05	5.671e-05	2.534e-05	0	0	0.0006	0	0.0001	0	0.0001	0.0006	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.32481	.	.	.	.	.	.	.	0.042049825	0.02916	T	0.001942	0.03456	T	.	.	.	.	0.243972157842	0.24002	0.028103748109271395	0.02760	.	.	0.488971620798	0.37295	T	.	.	.	-0.377645	0.03223	T	-0.780237	0.02446	T	.	.	.	0.60344	0.27736	T	.	.	.	.	.	.	.	.	-5.208	0.39023	T	.	.	0.263	0.54131	B	.;.	.;.	1.879948	0.23878	16.19	0.52751494822535117	0.04807	0.08114	0.14082	N	AEFDBHCIJ	0.031247	0.03299	N	.	.	.	.	.	.	0.482326227720587	0.20796	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	1.491000	0.35192	0.144000	0.15210	0.233000	0.18164	0.008000	0.17931	0.000000	0.08366	0.013000	0.09966	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004777	0.005051	0.005435	0.000000	0.000000	0.008621	0.000000	0.007634	0.02632	361.33	1143	chr1	16567241	.	G	T	361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=9832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.97;MQRankSum=-8.106;QD=0.21;ReadPosRankSum=1.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:760,0:760:99:.:.:0,120,1800:.	18	0	1	0
chr1	16567247	16567247	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	328	1193	1	0	0	1	0.000418936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00222158163521	.	.	0.0006	0.0010	0.0003	0	0.0008	0.0008	0	0.0002	3.84e-05	1	26028	rs4111894	1.273e-05	0.0003	4.506e-06	2.005e-05	2.198e-05	4.58e-06	3.01e-06	6.11e-06	3.71e-06	0	0	0	0	0	0	1.745e-05	0	2.198e-05	9.456e-05	0.0005	0.0001	4.562e-05	0.0003	5.566e-05	4.354e-05	8.741e-05	6.626e-05	2.522e-05	0	0	0.0003	0	0	0	0.0002	0	0.0003	.	.	.	0.3	0.24913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.45142	.	.	.	.	.	.	.	0.03066814	0.01195	T	0.002222	0.04206	T	.	.	.	.	0.107399877778	0.10242	0.010554148354748348	0.01016	.	.	0.527681112289	0.42708	T	.	.	.	-0.540397	0.00333	T	-1.01402	0.00114	T	.	.	.	0.612239	0.23293	T	.	.	.	.	.	.	.	.	-2.301	0.04560	T	.	.	0.155	0.41602	B	.;.	.;.	-0.112400	0.03568	0.690	0.39490951815254299	0.02728	0.00861	0.03425	N	AEFDBHCIJ	0.017214	0.00437	N	.	.	.	.	.	.	0.556295778410312	0.21376	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	-0.781	0.10412	-0.815000	0.04588	-20.000000	0.00162	0.209000	0.17967	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001591	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	195.33	1143	chr1	16567247	.	C	A	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=9838;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-7.385;QD=0.11;ReadPosRankSum=0.641;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:760,0:760:99:.:.:0,120,1800:.	18	0	1	0
chr1	16567981	16567981	G	T	exonic	NBPF1	.	unknown	UNKNOWN	.	393	1124	5	0	0	5	0.00221926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00045617910242	.	.	2.582e-05	0	0.0003	0	0	0	0	0	0.0003074	8	26028	rs4661811	0.0007	0.0039	0.0007	0.0006	0.0100	0.0006	0.0006	0.0090	0.0086	0.0002	0.0100	0	3.184e-05	0	0	0.0003	0.0004	0.0001	0.0027	0.0060	0.0025	0.0030	0.0232	0.0025	0.0024	0.0210	0.0201	0.0003	0	0.0232	0	0	0.0004	0	0.0012	0.0017	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	300.33	415	chr1	16567981	.	G	T	300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=8830;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.17;MQRankSum=-3.963;QD=0.44;ReadPosRankSum=1.02;SOR=0.807	GT:AD:DP:GQ:PL	0/0:418,0:418:99:0,120,1800	18	0	1	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:421,68:489:99:370,0,10918	13	0	6	0
chr1	16574536	16574536	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	378	1125	19	0	0	19	0.00837373	.	.	.	2805839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0048	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs11581347	1.305e-05	3.01e-05	8.205e-06	1.795e-05	0.0002	8.35e-06	6.73e-06	0.0001	8.712e-05	0.0002	2.237e-05	0	0	0	0	4.513e-06	8.325e-05	0	8.641e-05	9.854e-05	5.198e-05	0.0001	0.0003	5.012e-05	4.005e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	118.33	143	chr1	16574536	.	A	G	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.136;DP=2911;ExcessHet=0;FS=26.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.8;MQRankSum=-2.971;QD=0.32;ReadPosRankSum=0.319;SOR=1.781	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr1	16574538	16574538	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	378	1133	11	0	0	11	0.00483092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00255537321776	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205899729	2.131e-05	7.116e-05	2.599e-05	1.658e-05	0.0005	1.527e-05	1.331e-05	8.062e-05	3.378e-05	0	2.238e-05	0.0005	0	0	0.0005	7.223e-06	8.326e-05	1.162e-05	6.68e-06	1.317e-05	1.304e-05	0	6.659e-05	0	0	.	.	0	0	6.659e-05	0	0	0	0	0	0	0	.	.	.	0.236	0.30339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.17002	.	.	.	.	.	.	.	0.07845396	0.12504	T	0.002555	0.05121	T	.	.	.	.	0.0551355673512	0.04727	0.004757327794659995	0.00448	.	.	0.50318467617	0.39271	T	.	.	.	-0.510013	0.00502	T	-0.970375	0.00205	T	.	.	.	0.762924	0.38892	T	.	.	.	.	.	.	.	.	-2.71	0.07387	T	.	.	0.162	0.36791	B	.;.	.;.	-0.252310	0.02833	0.395	0.24866931884223301	0.01120	0.00223	0.01258	N	AEFI	0.040347	0.05989	N	.	.	.	.	.	.	7.51105256592444E-5	0.04552	0.360735	0.05675	0	0.346384	0.05893	0	0.292756	0.05521	0	0.370666	0.05837	0	.	.	0.626	-1.06	0.09491	-0.510000	0.06411	-0.782000	0.07450	-1.750000	0.00690	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3732.33	143	chr1	16574538	.	T	G	3732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=2529;ExcessHet=0;FS=5.188;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.18;MQRankSum=0.1;QD=8.72;ReadPosRankSum=0.55;SOR=0.772	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr1	16574684	16574684	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	398	1074	4	0	46	50	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00797655148855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs9727080	5.123e-05	0.0005	4.13e-05	6.127e-05	0.0003	4.175e-05	3.823e-05	0.0002	0.0002	0	2.258e-05	0.0002	2.561e-05	0	0	2.904e-05	0.0001	0.0003	0.0003	0.0008	0.0003	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	2.571e-05	0	0.0002	0.0003	0	0	0.0036	0.0003	0.0010	0.0027	.	.	.	0.21	0.30729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.0665735	0.09150	T	0.007977	0.21162	T	.	.	.	.	0.0401082797425	0.02173	0.00674169254771932	0.00641	.	.	0.538289189339	0.44204	T	.	.	.	-0.436369	0.01359	T	-0.86459	0.00795	T	.	.	.	0.752925	0.41649	T	.	.	.	.	.	.	.	.	-2.864	0.08788	T	.	.	0.100	0.16973	B	.;.	.;.	0.557644	0.09259	6.044	0.25570981217854921	0.01185	0.00230	0.01288	N	AEFBI	.	.	.	.	.	.	.	.	.	6.52510455814513E-5	0.04366	0.322412	0.05557	0	0.244055	0.04846	0	0.175069	0.04249	0	0.370666	0.05837	0	.	.	0.721	0.721	0.17373	0.107000	0.15212	-4.380000	0.02186	-2.692000	0.00212	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.3188:0.6812	4.802	0.12668	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	397.58	143	chr1	16574684	.	G	A	397.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.57;DP=2761;ExcessHet=0.119;FS=0.964;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=42.96;MQRankSum=-8.013;QD=0.57;ReadPosRankSum=-0.678;SOR=0.848	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	16	0	2	1
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:303,36:339:99:109,0,8210	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:29:.:.:0,29,2053:.	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:29:.:.:0,29,2053:.	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:37:.:.:0,37,1688:.	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:36:.:.:0,36,2077:.	8	0	11	0
chr1	16581485	16581485	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	1115	25	0	0	25	0.0110865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0003	0.0006	0.0005	0	0.0013	0.0033	0.0068	3.84e-05	1	26028	rs773373678	0.0004	0.0010	0.0003	0.0005	0.0052	0.0004	0.0003	0.0037	0.0032	5.979e-05	0.0002	0.0062	0.0003	0	0.0052	8.099e-05	0.0007	0.0024	0.0004	0.0010	0.0004	0.0005	0.0015	0.0004	0.0003	0.0007	0.0005	2.405e-05	0	0.0003	0.0090	0.0004	0	0.0034	0.0003	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014237	0.006494	0.015027	0.017241	0.000000	0.035088	0.010490	0.015748	0.02632	1595.33	567	chr1	16581485	.	G	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=12681;ExcessHet=0;FS=3.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.81;MQRankSum=1.73;QD=2.41;ReadPosRankSum=3.76;SOR=0.584	GT:AD:DP:GQ:PL	0/1:539,122:661:99:1609,0,14014	18	0	1	0
chr1	16582562	16582562	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1077	28	0	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4754	0.4827	0.4804	0.4601	0.4654	0.4720	0.4739	0.4927	0.0005379	14	26028	rs202075504	0.0001	0.0042	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	8.107e-05	0.0003	0.0003	0	0.0002	0	0.0001	0.0002	1.407e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0001	0.0001	2.923e-05	1.914e-05	5.017e-05	0	0.0001	0	0	0.0016	0	7.615e-05	0	0	.	.	.	0.653	0.06762	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.0016178787	0.00019	T	.	.	.	.	.	.	.	.	.	0.041448114611802936	0.04089	.	.	0.573401212692	0.49158	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-6.392	0.49448	T	.	.	0.057	0.00563	B	.;.	.;.	-0.393675	0.02236	0.227	0.38224358324587865	0.02565	0.00012	0.00170	N	AEFBI	0.020308	0.00789	N	.	.	.	.	.	.	3.41978884559381E-4	0.06626	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.345	0.11997	-1.666000	0.02065	-13.491000	0.00455	-2.340000	0.00311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4969:0.3097:0.0:0.1934	2.485	0.04316	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.39	66	chr1	16582562	.	A	C	62.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=1154;ExcessHet=0;FS=26.242;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=42.52;MQRankSum=-1.801;QD=1.01;ReadPosRankSum=-2.329;SOR=3.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:67,4:71:53:0|1:16582562_A_C:0,53,2834:16582562	18	0	1	0
chr1	16582566	16582566	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1073	32	0	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4756	0.4830	0.4809	0.4604	0.4656	0.4722	0.475	0.4928	0.0005379	14	26028	rs200499873	5.467e-05	0.0033	5.252e-05	5.678e-05	8.616e-05	4.305e-05	3.942e-05	4.225e-05	3.763e-05	0	8.616e-05	0.0001	0	6.108e-05	0	5.576e-05	0.0001	0	9.485e-05	0.0031	0.0001	6.953e-05	0.0002	5.693e-05	4.594e-05	8.22e-06	3.08e-06	4.962e-05	0	6.813e-05	0	0	0.0009	0	1.51e-05	0	0.0002	.	.	.	0.516	0.16522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.0016776323	0.00021	T	.	.	.	.	.	.	.	.	.	0.04361887031632314	0.04306	.	.	0.572986721992	0.49099	T	.	.	.	-0.605691	0.00135	T	-1.10781	0.00023	T	.	.	.	0.876612	0.58915	D	.	.	.	.	.	.	.	.	-6.598	0.51038	T	.	.	0.125	0.26263	B	.;.	.;.	-0.141115	0.03405	0.616	0.36035183622711708	0.02295	0.00012	0.00170	N	AEFBI	0.018223	0.00537	N	.	.	.	.	.	.	6.88243859610788E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	0.783	0.17717	-0.435000	0.07000	-5.842000	0.01578	-0.868000	0.02581	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.0:0.4062:0.5938	5.184	0.14502	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006517	0.000000	0.006812	0.011111	0.000000	0.008929	0.010949	0.004000	0.02632	71.37	63	chr1	16582566	.	T	G	71.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1143;ExcessHet=0;FS=25.884;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=42.15;MQRankSum=-1.673;QD=1.21;ReadPosRankSum=-2.521;SOR=3.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:66,5:71:18:0|1:16582562_A_C:0,18,2774:16582562	18	0	1	0
chr1	16582598	16582598	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00161184850171	.	.	0.0007	0.0003	0	0	0.0023	0.0008	0.0011	0.0007	0.0001537	4	26028	rs760796847	0.0013	0.0027	0.0012	0.0013	0.0015	0.0012	0.0012	0.0014	0.0014	6.838e-05	7.586e-05	0.0004	0	0.0027	0.0003	0.0015	0.0005	0.0005	0.0006	0.0020	0.0005	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	7.283e-05	0	6.58e-05	0.0003	0	0.0025	0	0.0007	0.0010	0.0002	.	.	.	0.667	0.06365	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.034389168	0.01645	T	0.001612	0.02600	T	.	.	.	.	0.548274029423	0.54483	0.09397841412381532	0.09329	.	.	0.593917548656	0.52046	T	.	.	.	-0.442982	0.01242	T	-0.874089	0.00705	T	.	.	.	0.928907	0.73860	D	.	.	.	.	.	.	.	.	-9.648	0.71778	D	.	.	0.213	0.44174	B	.;.	.;.	0.956473	0.13331	9.831	0.38149752361645262	0.02556	0.00913	0.03561	N	AEFBI	0.044144	0.07066	N	.	.	.	.	.	.	6.44826626712388E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.405	0.11775	1.041000	0.29901	-0.631000	0.08125	0.242000	0.18252	0.401000	0.26178	0.000000	0.08366	0.019000	0.11356	0.0:0.0:0.6799:0.3201	5.616	0.16710	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000591	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004065	0.02632	82.33	37	chr1	16582598	.	G	C	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1050;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.29;MQRankSum=-1.551;QD=1.91;ReadPosRankSum=-0.684;SOR=0.963	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr1	16585634	16585634	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0005	0	0.0001	0.0009	0.0010	0	6.112e-05	0.0001921	5	26028	rs562050811	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.24e-05	0	0	0.0003	0	0.0003	0.0002	0	0.0002	0.0007	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	6.533e-05	0	0	0.0003	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001185	0.000000	0.001370	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	308.33	88	chr1	16585634	.	G	A	308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.94;DP=1986;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.82;MQRankSum=3.37;QD=1.18;ReadPosRankSum=-1.167;SOR=0.463	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr1	16587780	16587780	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	390	1128	4	0	0	4	0.00176991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00546598309976	.	.	0.0001	0	8.646e-05	0	0.0002	0.0002	0	6.058e-05	3.84e-05	1	26028	rs770461959	2.054e-06	6.43e-05	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.657e-05	1.16e-05	3.945e-05	0.0004	1.287e-05	6.724e-05	7.369e-05	1.716e-05	1.13e-05	2.852e-05	1.862e-05	0	0	0	0.0003	0	0	0	7.369e-05	0	0	.	.	.	0.004	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	0.111156285	0.20804	T	0.005466	0.14045	T	.	.	.	.	0.364926071151	0.36103	0.04522220431681719	0.04466	.	.	0.557098805904	0.46858	T	.	.	.	-0.0659451	0.41974	T	-0.332502	0.41190	T	.	.	.	0.906409	0.67021	D	.	.	.	.	.	.	.	.	-9.658	0.71839	D	.	.	0.196	0.41723	B	.;.	.;.	2.400569	0.30838	18.56	0.53403291675194176	0.04933	0.00501	0.02358	N	AEFBI	0.034368	0.04245	N	.	.	.	.	.	.	0.796372306263757	0.24107	0.145562	0.03210	1	0.156256	0.03748	2	0.121787	0.03316	0	0.221052	0.04502	0	.	.	0.338	0.338	0.15214	0.884000	0.27851	-7.037000	0.01246	0.446000	0.21189	0.521000	0.27119	0.000000	0.08366	0.007000	0.07825	.	.	.	451	0.79296	.;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001148	0.000000	0.000000	0.000000	0.000000	0.000000	0.003546	0.000000	0.02632	162.33	734	chr1	16587780	.	C	A	162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=11681;ExcessHet=0;FS=7.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.87;MQRankSum=-10.12;QD=0.41;ReadPosRankSum=0.386;SOR=1.24	GT:AD:DP:GQ:PL	0/0:837,0:837:99:0,120,1800	18	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/0:620,0:620:99:0,120,1800	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/0:310,0:310:99:0,120,1800	10	0	9	0
chr1	16757769	16757769	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon13:c.T1753C:p.W585R	.	328	1192	2	0	0	2	0.000838223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208009967	0.0001	0.0003	8.881e-05	0.0002	0.0006	0.0001	9.59e-05	0.0004	0.0004	0.0002	0.0001	0	0	4.867e-05	0.0006	8.973e-05	0.0002	0.0006	0.0005	0.0015	0.0005	0.0005	0.0014	0.0004	0.0004	0.0006	0.0004	0.0003	0	0.0004	0.0003	0	0.0010	0	0.0006	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	726	chr1	16757769	.	A	G	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.616;DP=7434;ExcessHet=0;FS=6.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.95;MQRankSum=-10.54;QD=1.25;ReadPosRankSum=0.599;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:310,0:310:99:.:.:0,120,1800:.	18	0	1	0
chr1	16758493	16758493	G	T	exonic	MST1L	.	stopgain	MST1L:NM_001271733:exon11:c.C1487A:p.S496X	.	351	1169	2	0	0	2	0.000854701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.274e-06	0	0	0	0	1.507e-05	0	0	3.84e-05	1	26028	rs776154290	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	331.33	576	chr1	16758493	.	G	T	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.302;DP=7265;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.11;MQRankSum=-0.089;QD=0.58;ReadPosRankSum=0.366;SOR=0.721	GT:AD:DP:GQ:PL	0/0:455,0:455:99:0,120,1800	18	0	1	0
chr1	16758878	16758878	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.G1318A:p.G440R	.	362	1157	3	0	0	3	0.00129478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.0016	0.0020	0.0003	0.0006	0.0003	0.0020	0.0011	0.0022	0.0003842	10	26028	rs2092130	0.0013	0.0042	0.0013	0.0013	0.0021	0.0012	0.0012	0.0014	0.0013	0.0013	0.0003	0.0002	0.0003	0.0001	0.0021	0.0014	0.0012	0.0013	0.0016	0.0041	0.0017	0.0014	0.0019	0.0014	0.0013	0.0017	0.0016	0.0013	0	0.0017	0.0012	0.0010	0.0003	0.0036	0.0019	0.0020	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1105.33	50	chr1	16758878	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=2904;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.51;MQRankSum=1.23;QD=2.23;ReadPosRankSum=0.262;SOR=0.807	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr1	16758880	16758880	T	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.A1316G:p.D439G	.	361	1134	27	0	0	27	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	.	.	0.0089	0.0319	0.0046	0	0.0093	0.0088	0.0080	0.0046	0.0001921	5	26028	rs28695262	0.0002	0.0015	0.0003	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0002	0.0002	0	0	0.0003	0.0001	0.0003	0.0002	0.0014	0.0035	0.0015	0.0014	0.0042	0.0013	0.0012	0.0036	0.0034	0.0042	0	0.0006	0	0	0.0004	0	0.0006	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	50	chr1	16758880	.	T	C	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.91;DP=3330;ExcessHet=0;FS=24.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.16;MQRankSum=-4.381;QD=3.32;ReadPosRankSum=-1.012;SOR=1.781	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	3589.58	412	chr1	16758952	.	G	A	3589.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.07;DP=10167;ExcessHet=0.119;FS=5.322;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=50.32;MQRankSum=-4.417;QD=3.36;ReadPosRankSum=1.48;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:404,0:404:99:.:.:0,120,1800:.	16	0	2	1
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	634.83	144	chr1	16759377	.	A	G	634.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=3034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.38;MQRankSum=-6.601;QD=2.05;ReadPosRankSum=-1.176;SOR=0.64	GT:AD:DP:GQ:PL	0/0:170,0:170:99:0,120,1800	17	0	2	0
chr1	16759394	16759394	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T932C:p.L311P	.	402	1110	10	0	0	10	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	0.00159744	0.0042	0.0021	0.0027	0	0.0013	0.0063	0.0012	0.0014	0.0034411	532	154602	rs199621808	0.0068	0.0078	0.0070	0.0067	0.0083	0.0067	0.0067	0.0082	0.0081	0.0012	0.0026	0.0002	0	0.0011	0.0037	0.0083	0.0062	0.0015	0.0042	0.0048	0.0046	0.0039	0.0076	0.0040	0.0039	0.0071	0.0068	0.0014	0	0.0024	0	0	0.0009	0.0068	0.0076	0.0048	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1012.33	144	chr1	16759394	.	A	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.617;DP=2970;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.47;MQRankSum=3.44;QD=4.54;ReadPosRankSum=2.19;SOR=0.68	GT:AD:DP:GQ:PL	0/0:170,0:170:99:0,120,1800	18	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:79,15:94:99:252,0,2538	1	7	11	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2398.79	158	chr1	16760442	.	G	T	2398.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.524;DP=3653;ExcessHet=0.3672;FS=2.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=42.76;MQRankSum=-0.462;QD=3.56;ReadPosRankSum=-0.505;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:229,0:229:99:.:.:0,120,1800:.	16	0	3	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2353.75	158	chr1	16760444	.	TAC	T	2353.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.742;DP=3685;ExcessHet=0.3672;FS=5.613;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=43.11;MQRankSum=-0.727;QD=3.42;ReadPosRankSum=-0.201;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:229,0:229:99:.:.:0,120,1800:.	16	0	3	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/0:229,0:229:99:0,120,1800	9	0	10	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3896.79	315	chr1	16760848	.	G	C	3896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.661;DP=9024;ExcessHet=0.3672;FS=3.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.61;MQRankSum=-10.22;QD=2.48;ReadPosRankSum=0.785;SOR=1.108	GT:AD:DP:GQ:PL	0/0:372,0:372:99:0,120,1800	16	0	3	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	6483.37	502	chr1	16760964	.	A	G	6483.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.242;DP=11036;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.29;MQRankSum=-1.517;QD=2.3;ReadPosRankSum=0.031;SOR=0.697	GT:AD:DP:GQ:PL	0/0:430,0:430:99:0,120,1800	14	0	5	0
chr1	16929959	16929959	C	G	exonic	CROCC	.	stopgain	CROCC:NM_014675:exon4:c.C465G:p.Y155X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0005	0.0003	0	0.0005	0	0.0001	0.0001229	19	154602	rs766925565	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	9.015e-05	0.0001	0	0.0004	2.072e-05	0	0.0004	0.0004	6.085e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0004	0	0.0004	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34374	0.86083	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.213409	0.96274	35	0.99710998587402588	0.81353	0.96570	0.69802	D	AEFDBHCI	0.076331	0.15352	N	0.846308291877487	0.88898	9.754555	0.720228423302771	0.83913	8.148594	0.999999999999981	0.74766	0.751926	0.98777	0	0.588066	0.40923	0	0.639134	0.45391	0	0.491896	0.07777	0	.	.	5.17	5.17	0.70848	5.425000	0.66208	1.376000	0.25995	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.246	0.86912	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	39	chr1	16929959	.	C	G	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=721;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-1.859;QD=17.81;ReadPosRankSum=1.19;SOR=0.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1167:.	18	0	1	0
chr1	16929960	16929960	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon4:c.C466T:p.R156W	.	0	225	1	0	0	1	0.00221729	.	.	.	3239058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0233535399934	.	.	0.0004	0.0002	0.0005	0.0008	0	0.0005	0	0.0001	0.0001358	21	154602	rs752300095	0.0003	0.0004	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0.0001	0	0.0005	2.073e-05	0	0.0004	0.0004	6.086e-05	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0004	0	0.0004	0	0	0.0006	0	0	0.002	0.72154	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.999602	0.47795	D	.	.	.	2.72	0.11947	T	-4.61	0.79060	D	0.414	0.45426	-1.1651	0.00640	T	0.053	0.22346	T	9	0.17235202	0.32004	T	0.023354	0.46316	T	0.207	0.49555	.	.	0.42526943336	0.42144	0.19091276702414528	0.19009	0.298638160844	0.32241	0.614079236984	0.54893	T	.	.	.	-0.33943	0.05427	T	-0.39328	0.34167	T	0.21941904139319	0.21435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48438	B	.	.	5.099877	0.85202	28.5	0.99806294225873426	0.89085	0.92173	0.55108	D	AEFDBHCI	0.562307	0.56995	D	0.532582241195126	0.69028	5.299256	0.541568256225612	0.70811	5.560638	0.999999989122924	0.74766	0.751926	0.98777	0	0.588066	0.40923	0	0.639134	0.45391	0	0.491896	0.07777	0	.	.	5.17	4.19	0.48645	3.925000	0.56198	3.369000	0.37918	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.3857:0.6143:0.0:0.0	10.028	0.41254	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	39	chr1	16929960	.	C	T	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.778;DP=720;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-1.859;QD=17.81;ReadPosRankSum=1.34;SOR=0.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1167:.	18	0	1	0
chr1	16936809	16936809	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon9:c.C1129T:p.R377C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00591123459944	.	.	0.0001	0	8.724e-05	0	0	0	0	0.0009	0.0001035	16	154602	rs752617403	7.467e-05	7.867e-05	5.453e-05	9.501e-05	0.0009	6.324e-05	5.881e-05	0.0008	0.0007	0	2.237e-05	0	0	0	0	2.069e-05	9.955e-05	0.0009	5.25e-05	5.249e-05	1.284e-05	9.393e-05	0.0012	2.554e-05	1.828e-05	0.0005	0.0004	0	0	6.53e-05	0	0	0	0	1.47e-05	0	0.0012	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.25	0.31576	N	0.177	0.19055	-0.9768	0.35727	T	0.017	0.07140	T	9	0.017435938	0.00372	T	0.005911	0.15400	T	0.012	0.01476	0.261	0.20473	0.143124449307	0.13826	0.0433917446449198	0.04284	0.0517263259059	0.05692	0.203333362937	0.00560	T	0.033974	0.23133	T	-0.536253	0.00353	T	-0.62485	0.10808	T	0.0513544960931954	0.05736	T	0.690631	0.30012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.18456	B	.;.	.;.	2.209277	0.28181	17.71	0.98879390497541109	0.47788	0.12622	0.17380	N	AEFGBI	0.090375	0.18314	N	-0.910597894264388	0.10592	0.5069533	-0.929348910245015	0.11403	0.5807331	0.0143932010687393	0.12590	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.54	1.67	0.23149	0.803000	0.26744	1.347000	0.25779	0.599000	0.40250	0.002000	0.15269	0.003000	0.18671	0.032000	0.13371	0.1723:0.6262:0.0:0.2015	4.806	0.12686	846	0.36215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000550	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	579.33	41	chr1	16936809	.	C	T	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=676;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.721;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1087	18	0	1	0
chr1	16946876	16946876	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon17:c.C2399T:p.A800V	.	363	1149	10	0	0	10	0.00433276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0122393817701	0.0019	0.00239617	0.0058	0.0004	0	0	0	0.0070	0.0091	0.0073	0.0014812	229	154602	rs41267493	0.0028	0.0029	0.0026	0.0030	0.0066	0.0028	0.0027	0.0061	0.0059	0.0003	0.0009	0.0179	2.729e-05	0.0001	0.0033	0.0025	0.0032	0.0066	0.0019	0.0020	0.0018	0.0019	0.0081	0.0017	0.0016	0.0061	0.0054	0.0004	0	0.0008	0.0176	0	0.0005	0.0102	0.0021	0.0014	0.0081	0.008	0.58626	D	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	0.944602	0.26686	N	.	.	.	2.84	0.10674	T	-1.16	0.29727	N	0.186	0.20262	-0.9926	0.31933	T	0.014	0.05369	T	9	0.0054492056	0.00120	T	0.012239	0.30635	T	0.018	0.03083	.	.	0.221734844693	0.21761	0.07561405111527064	0.07497	0.35885140757	0.37586	0.392924010754	0.24081	T	.	.	.	-0.645384	0.00077	T	-0.696519	0.06018	T	0.024701215326786	0.01234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14293	B	.	.	3.189692	0.43335	21.7	0.99810435716389179	0.89442	0.71580	0.35075	D	AEFDBI	0.136332	0.25697	N	-0.347368641476783	0.27368	1.501046	-0.235573406897796	0.30272	1.702995	0.00560507813019016	0.10990	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.5	2.37	0.28337	1.770000	0.38162	5.767000	0.49719	0.524000	0.24156	0.844000	0.30348	1.000000	0.68203	0.257000	0.23443	0.7608:0.2391:0.0:0.0	8.339	0.31396	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002041	0.000000	0.001370	0.000000	0.000000	0.000000	0.006211	0.003906	0.02632	565.33	40	chr1	16946876	.	C	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=811;ExcessHet=0;FS=2.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.579;SOR=1.035	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1329	18	0	1	0
chr1	16965851	16965851	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon28:c.C4534T:p.R1512W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.315579139493	0.0002	0.000199681	0.0002	0.0001	0.0006	0	0	0.0003	0	0	0.000194	30	154602	rs144701609	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0.0004	0	0.0001	1.892e-05	0	0.0003	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	7.216e-05	0	0.0001	0	0	0	0	0.0004	0.0005	0	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.914836	0.36510	D	.	.	.	0.36	0.57880	T	-7.14	0.94073	D	0.469	0.50508	-0.3145	0.74577	T	0.310	0.68076	T	9	0.339226	0.51013	T	0.315579	0.91318	D	0.188	0.46444	.	.	0.734323642297	0.73195	0.29359559038256294	0.29272	0.529060001506	0.50466	0.524001181126	0.42189	T	.	.	.	-0.226779	0.17077	T	-0.257552	0.49069	T	0.329826473678702	0.26218	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26419	B	.	.	4.795353	0.77860	26.8	0.99916495496906144	0.98449	0.86072	0.45286	D	AEFBI	0.578125	0.57945	D	0.327836702030906	0.57581	3.926043	0.189686706618893	0.49279	3.13318	0.895271065434981	0.25950	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.48	2.42	0.28720	1.936000	0.39812	0.566000	0.19559	0.539000	0.25131	0.999000	0.42656	0.344000	0.24438	0.811000	0.38219	0.3145:0.6855:0.0:0.0	11.629	0.50421	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	33	chr1	16965851	.	C	T	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=738;ExcessHet=0;FS=13.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.692;SOR=1.1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	18	0	1	0
chr1	16969866	16969866	C	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon33:c.C5383G:p.R1795G	.	425	1083	13	1	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0012	0.013778	0.0118	0.0005	0.0234	0.0788	0.0179	0.0038	0.0172	0.0034	0.0101034	1562	154602	rs79354809	0.0047	0.0047	0.0048	0.0046	0.0775	0.0046	0.0046	0.0752	0.0742	0.0002	0.0181	0.0031	0.0775	0.0205	0.0026	0.0010	0.0058	0.0042	0.0052	0.0052	0.0040	0.0064	0.0670	0.0049	0.0048	0.0612	0.0589	0.0002	0	0.0056	0.0029	0.0670	0.0211	0	0.0012	0.0057	0.0046	0.033	0.44358	D	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.997564	0.43994	D	.	.	.	2.87	0.10386	T	-3.58	0.69118	D	0.142	0.14196	-1.1591	0.00778	T	0.004	0.01226	T	9	0.0022875667	0.00034	T	.	.	.	0.086	0.25016	.	.	.	.	0.130654658728565	0.12990	0.362009664807	0.37853	0.418873429298	0.27682	T	.	.	.	-0.51857	0.00448	T	-0.456818	0.26945	T	0.0372098982334137	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.211095	0.43707	21.8	0.99775563011870105	0.86260	0.93923	0.59584	D	AEFBI	0.412527	0.48257	N	0.217583725920163	0.52052	3.381875	0.159926822944916	0.47669	2.993771	0.999959140080934	0.48110	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.97	4.04	0.46262	1.889000	0.39352	0.826000	0.21901	0.599000	0.40250	1.000000	0.71638	0.995000	0.32472	0.447000	0.27828	0.1624:0.8376:0.0:0.0	12.980	0.57957	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003049	0.000000	0.000000	0.002959	0.000000	0.000000	0.012500	0.003788	0.02632	636.33	34	chr1	16969866	.	C	G	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=709;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.342;SOR=0.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr1	16988356	16988356	T	C	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141974:exon23:c.A2596G:p.M866V,ATP13A2:NM_001141973:exon24:c.A2713G:p.M905V,ATP13A2:NM_022089:exon24:c.A2728G:p.M910V	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0979173572665	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769961390	8.209e-06	8.209e-06	8.168e-06	8.251e-06	0.0001	4.38e-06	3.46e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	0	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.151	0.25560	T	0.288	0.21144	T	0.0	0.02946	B	0.0	0.01387	B	0.361394	0.13664	N	0.735663	0.988883	0.24360	N	-1.825	0.00279	N	0.45	0.98969	T	0.05	0.08809	N	0.111	0.12627	0.291	0.87409	D	0.658	0.88114	D	10	0.03594303	0.01867	T	0.097917	0.76854	D	0.129	0.35316	0.399	0.42753	0.720694500034	0.71823	0.09046174636602368	0.08979	0.329208167022	0.35030	0.305052518845	0.11160	T	0.055368	0.29985	T	-0.204595	0.20144	T	-0.329009	0.41581	T	0.013703083011805	0.00256	T	0.274073	0.36981	T	0.039863177	0.05583	0.06973458	0.14731	0.039863177	0.05582	0.06973458	0.14730	-4.507	0.31123	T	0.07193603384025365	0.02907	0.051	0.00297	B	.;.;.;.	.;.;.;.	0.038106	0.04550	1.240	0.66200255110484429	0.07989	0.16161	0.19259	N	AEFBCI	0.240898	0.36261	N	-1.24503061177502	0.04365	0.1968807	-1.09786560595181	0.07742	0.3778036	0.962705227953934	0.28640	0.712529	0.81865	0	0.709663	0.81188	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.74	-0.786	0.10394	-0.269000	0.08626	-2.545000	0.03625	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.845000	0.39915	0.0:0.1998:0.1407:0.6595	5.779	0.17559	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2148.33	35	chr1	16988356	.	T	C	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.459;DP=963;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.49;SOR=0.683	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1468	18	0	1	0
chr1	17027759	17027759	C	T	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon5:c.G530A:p.R177H	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	238179	Gastrointestinal_stromal_tumor|Hereditary_pheochromocytoma-paraganglioma|not_provided|Paragangliomas_4|Pheochromocytoma|not_specified|Hereditary_cancer-predisposing_syndrome	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.799	0.397935509526	7.7e-05	0.000199681	1.647e-05	9.612e-05	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs150437793	1.536e-05	2.19e-05	9.751e-06	2.1e-05	9.131e-05	1.006e-05	8.59e-06	2.419e-05	1.27e-05	9.131e-05	6.713e-05	0	5.054e-05	0	0	9.215e-06	3.37e-05	2.335e-05	3.939e-05	3.937e-05	6.424e-05	1.343e-05	0.0003	1.714e-05	1.129e-05	0.0001	8.282e-05	2.405e-05	0	0.0003	0	0	0	0	0	0	0	0.0	0.91255	D	0.007	0.74150	D	0.611	0.39680	P	0.38	0.43842	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.965	0.96539	H	-4.23	0.97006	D	-4.17	0.75456	D	0.789	0.78546	1.088	0.99146	D	0.937	0.97927	D	10	0.805691	0.79911	D	0.397936	0.93334	D	0.799	0.93425	.	.	0.982479477968	0.98229	0.8827251957297785	0.88240	0.59830580156	0.55004	0.674279928207	0.63448	T	0.702013	0.91428	D	0.306207	0.83458	D	0.377915	0.91356	D	0.998786866664886	0.95158	D	0.928407	0.74412	D	0.9060633	0.91931	0.80791265	0.88768	0.8766362	0.89394	0.80138737	0.88357	-14.194	0.93670	D	0.8796678996048423	0.93781	0.909	0.83352	P	.;.;.	.;.;.	5.098652	0.85179	28.5	0.99919420525810621	0.98654	0.97176	0.73137	D	AEFDBCIJ	0.925430	0.90497	D	0.60761661712547	0.73654	6.001827	0.600439740030707	0.74974	6.228939	0.999999999999115	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.373000	0.78878	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.527	0.90928	840	0.37365	4Fe-4S ferredoxin-type, iron-sulphur binding domain;4Fe-4S ferredoxin-type, iron-sulphur binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1195.33	37	chr1	17027759	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.659;DP=735;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.564;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr1	17044818	17044818	T	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A143T:p.D48V	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	48183	Paragangliomas_4|Pheochromocytoma|Gastrointestinal_stromal_tumor|not_provided|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Mitochondrial_complex_2_deficiency,_nuclear_type_4|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0030974,MedGen:C5543176,OMIM:619224|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.917	0.673341883146	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs202101384	1.984e-05	1.984e-05	9.529e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	2.698e-06	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	6.548e-05	2.18e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.888	0.48822	P	0.745	0.55870	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	-5.38	0.99045	D	-5.01	0.82450	D	0.939	0.94550	1.083	0.98981	D	0.972	0.99129	D	10	0.8362266	0.82779	D	0.673342	0.97280	D	0.917	0.97852	0.544	0.65731	0.989186055574	0.98906	0.8680426427243094	0.86769	0.731539961382	0.62749	0.531592726707	0.43259	T	0.913204	0.98382	D	0.34735	0.86329	D	0.565715	0.96020	D	0.934484004974365	0.60200	D	0.993001	0.97720	D	0.92658126	0.93895	0.8971284	0.94772	0.9296118	0.94199	0.89180464	0.94395	-10.556	0.77168	D	0.4116958659517902	0.50192	0.554	0.67915	A	.;.	.;.	5.115164	0.85536	28.6	0.9942255575376906	0.63838	0.97797	0.77204	D	AEFDBI	0.888829	0.82234	D	0.802256886043653	0.86246	8.824348	0.779434746241346	0.88330	9.541495	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.835000	0.70278	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2017.33	52	chr1	17044818	.	T	A	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=1081;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.09;SOR=0.599	GT:AD:DP:GQ:PL	0/1:118,87:205:99:2031,0,2928	18	0	1	0
chr1	17339768	17339768	G	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon6:c.G607A:p.V203M	.	.	.	.	.	.	.	.	.	.	.	3208319	PADI4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.211	0.0175785503831	7.7e-05	0.00119808	0.0005	0	0	0.0069	0	0	0	0	0.0003881	60	154602	rs147414271	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	0.0001	0.0029	0.0027	0	4.477e-05	0	0.0034	0	0	3.868e-05	3.312e-05	2.32e-05	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	7.22e-05	0	0	0	0.0052	0	0	5.88e-05	0	0	0.074	0.34621	T	0.007	0.69154	D	0.999	0.77913	D	0.924	0.65913	D	0.000015	0.62929	D	0.068482	0.986773	0.24583	N	2.54	0.74080	M	1.97	0.22067	T	-1.9	0.44284	N	0.596	0.61511	-1.0474	0.15130	T	0.088	0.33913	T	10	0.016382933	0.00345	T	0.017579	0.39335	T	0.211	0.50185	.	.	0.38342384377	0.37955	0.4457715804572826	0.44495	0.538909183156	0.51137	0.526029229164	0.42475	T	0.196159	0.55246	T	-0.440765	0.01280	T	-0.404124	0.32905	T	0.196604043197428	0.20226	T	.	.	.	0.2821462	0.51254	0.20123287	0.44093	0.2821462	0.51254	0.20123287	0.44092	-6.525	0.50479	T	.	.	0.140	0.30660	B	.	.	4.063222	0.60319	24.2	0.99780347260532265	0.86693	0.69930	0.34384	D	AEFDBI	0.136001	0.25652	N	0.427496322823949	0.62938	4.518397	0.315018739184331	0.56421	3.805457	0.481409719407182	0.20789	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.87	3.95	0.44952	0.795000	0.26632	5.127000	0.47629	-0.135000	0.12811	0.463000	0.26667	1.000000	0.68203	0.005000	0.06747	0.1072:0.0:0.8928:0.0	8.119	0.30119	662	0.61715	Protein-arginine deiminase (PAD), central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2288.33	39	chr1	17339768	.	G	A	2288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.13;DP=862;ExcessHet=0;FS=4.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.955;SOR=0.419	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	17438267	17438267	A	G	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.T248C:p.V83A,RCC2:NM_018715:exon2:c.T248C:p.V83A	.	359	1149	14	0	0	14	0.00605536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0013	0.00219649	0.0045	0.0006	0.0016	0.0002	0.0047	0.0041	0	0.0126	0.0022057	341	154602	rs200660338	0.0028	0.0027	0.0027	0.0030	0.0087	0.0027	0.0027	0.0080	0.0078	0.0005	0.0007	0	5.18e-05	0.0033	0.0051	0.0027	0.0019	0.0087	0.0023	0.0023	0.0021	0.0026	0.0107	0.0021	0.0020	0.0083	0.0075	0.0005	0	0.0007	0	0	0.0033	0	0.0034	0.0024	0.0107	0.369	0.11586	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	0.774214	0.09523	N	0.852017	0.99918	0.21543	N	1.085	0.27262	L	1.33	0.35031	T	0.39	0.03521	N	0.1	0.09207	-0.9890	0.32853	T	0.048	0.20395	T	10	0.0034547746	0.00061	T	.	.	.	0.014	0.01968	.	.	0.043077524339	0.03247	0.19436126816134353	0.19354	1.63069660363	0.89218	0.824599742889	0.85735	D	0.032243	0.22400	T	-0.593608	0.00159	T	-0.619762	0.11204	T	0.00438792510085257	0.00047	T	.	.	.	0.03901998	0.05308	0.058205187	0.10716	0.03901998	0.05307	0.058205187	0.10716	-4.199	0.26737	T	.	.	0.183	0.39630	B	.;.	.;.	1.998206	0.25390	16.74	0.90359611567091214	0.19623	0.01159	0.04181	N	AEFDBHCIJ	0.040281	0.05971	N	-1.05091254641253	0.07569	0.3520919	-1.017522591387	0.09400	0.4674583	0.999999990127784	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	-0.224000	0.09169	3.445000	0.38408	0.441000	0.21086	0.000000	0.06391	0.990000	0.31317	0.530000	0.29707	0.8561:0.0:0.1439:0.0	5.965	0.18553	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	386.33	34	chr1	17438267	.	A	G	386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=669;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.792;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,899	18	0	1	0
chr1	17438330	17438330	G	A	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.C185T:p.A62V,RCC2:NM_018715:exon2:c.C185T:p.A62V	.	337	1176	9	0	0	9	0.00381194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.000798722	0.0074	0	0	0	0	0.0065	0.0556	0.0088	0.0002846	44	154602	rs544910613	0.0003	0.0005	0.0003	0.0004	0.0046	0.0003	0.0003	0.0038	0.0036	9.329e-05	0.0007	0.0026	4.622e-05	0	0.0046	0.0002	0.0010	0.0044	0.0004	0.0004	0.0003	0.0004	0.0046	0.0003	0.0003	0.0031	0.0026	2.421e-05	0	0.0005	0.0026	0	0	0.0069	0.0002	0.0019	0.0046	0.456	0.08839	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.715531	0.06283	U	1.404420	0.95959	0.26180	N	0	0.06538	N	1.21	0.37230	T	-0.34	0.12661	N	0.14	0.15749	-1.0263	0.21658	T	0.045	0.19275	T	10	0.0041181147	0.00081	T	.	.	.	0.044	0.11924	.	.	0.220282294035	0.21616	0.23478545127666164	0.23393	0.850350720984	0.68505	0.760822057724	0.76051	T	0.026547	0.19622	T	-0.575252	0.00206	T	-0.596197	0.13133	T	0.0209621993286849	0.00797	T	.	.	.	0.04797854	0.08291	0.082362935	0.18792	0.04797854	0.08291	0.082362935	0.18791	-4.846	0.35123	T	.	.	0.081	0.08129	B	.;.	.;.	2.469564	0.31825	18.86	0.98066439488370427	0.37991	0.10169	0.15749	N	AEFDBHCIJ	0.072978	0.14582	N	-0.601079980783932	0.18912	0.985694	-0.459770097920679	0.23272	1.268258	0.999999728900358	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.62	2.62	0.30337	0.041000	0.13813	5.934000	0.51367	0.464000	0.21668	0.019000	0.19563	1.000000	0.68203	0.934000	0.47231	0.1647:0.0:0.8353:0.0	6.040	0.18956	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007020	0.000000	0.000000	0.016667	0.000000	0.055556	0.000000	0.012195	0.02632	367.33	34	chr1	17438330	.	G	A	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=641;ExcessHet=0;FS=1.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.205;SOR=1.035	GT:AD:DP:GQ:PL	0/0:34,0:34:87:0,87,1305	18	0	1	0
chr1	17823118	17823118	C	A	exonic	ACTL8	.	nonsynonymous SNV	ACTL8:NM_030812:exon2:c.C110A:p.P37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.125698104957	0.0027	0.000599042	0.0021	0.0006	8.639e-05	0	0.0003	0.0037	0	0	0.0022703	351	154602	rs55738309	0.0025	0.0025	0.0026	0.0024	0.0029	0.0024	0.0024	0.0029	0.0028	0.0003	0.0002	0.0070	0	0.0008	0	0.0029	0.0024	0	0.0016	0.0016	0.0017	0.0014	0.0028	0.0014	0.0014	0.0024	0.0023	0.0005	0	0.0002	0.0072	0	0.0003	0	0.0028	0.0014	0	0.001	0.78490	D	0.382	0.15890	T	0.999	0.77913	D	0.966	0.71341	D	0.652054	0.10504	N	0.797212	1	0.08975	N	1.145	0.29067	L	-3.37	0.94114	D	-1.43	0.35194	N	0.302	0.34659	0.088	0.83963	D	0.796	0.93100	D	10	0.015033692	0.00316	T	0.125698	0.80725	D	0.344	0.66582	.	.	0.96785574353	0.96751	0.5628749215774015	0.56214	1.21586096844	0.80957	0.415955364704	0.27279	T	0.504322	0.82345	D	-0.28773	0.09866	T	-0.180953	0.56435	T	0.0293890418061471	0.01897	T	0.59944	0.22338	T	0.1541782	0.34911	0.19459848	0.43091	0.1541782	0.34911	0.19459848	0.43090	-4.388	0.29394	T	.	.	0.253	0.56071	B	.;.	.;.	2.708774	0.35399	19.89	0.98359374229392371	0.40628	0.48506	0.28222	N	AEFBI	0.141477	0.26366	N	0.19514498297636	0.50965	3.281729	0.085181269986614	0.43803	2.674521	4.85264826981487E-4	0.07123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.39	0.37919	1.373000	0.33877	4.137000	0.42065	0.599000	0.40250	0.001000	0.13787	0.973000	0.29867	0.223000	0.22544	0.1456:0.586:0.2683:0.0	9.039	0.35469	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3398.33	40	chr1	17823118	.	C	A	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=1013;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.906;SOR=0.924	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1433	18	0	1	0
chr1	18854520	18854520	C	G	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon3:c.G950C:p.R317P	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	.	.	0.013778	0.0053	9.677e-05	0.0002	0.0622	0	0.0001	0.0034	0.0052	0.0046765	723	154602	rs34545913	0.0020	0.0020	0.0020	0.0021	0.0574	0.0020	0.0020	0.0554	0.0546	0.0002	0.0002	0.0018	0.0574	0	0.0005	4.947e-05	0.0037	0.0041	0.0023	0.0023	0.0021	0.0026	0.0590	0.0021	0.0021	0.0536	0.0515	0.0002	0	0.0001	0.0023	0.0590	9.423e-05	0	5.881e-05	0.0019	0.0044	0.085	0.32769	T	0.123	0.35582	T	0.794	0.44757	P	0.53	0.48544	P	0.742189	0.06434	N	1.158180	1	0.08975	N	0.935	0.23595	L	-1.68	0.82897	D	-3.35	0.66436	D	0.364	0.40565	-0.6645	0.62077	T	0.349	0.71297	T	10	0.0029919744	0.00049	T	.	.	.	0.428	0.73517	.	.	0.415690173769	0.41181	0.8155851231294357	0.81514	0.578793931238	0.53776	0.244436860085	0.03204	T	0.284531	0.65731	T	-0.375328	0.03333	T	-0.267119	0.48111	T	0.0668757962336005	0.08205	T	0.569643	0.20265	T	0.6019375	0.72795	0.6690644	0.80587	0.6019375	0.72796	0.6690644	0.80588	-5.656	0.43300	T	.	.	0.210	0.43801	B	.	.	0.498481	0.08677	5.448	0.91475449151892441	0.20748	0.13921	0.18125	N	AEFDBI	0.343075	0.43901	N	-1.18008433089736	0.05301	0.2413523	-1.3442591822043	0.03874	0.1815995	0.00676480460147261	0.11302	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	-4.74	0.03013	-0.460000	0.06797	-1.328000	0.05705	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1162:0.25:0.0:0.6338	8.464	0.32106	946	0.12043	Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2778.33	33	chr1	18854520	.	C	G	2778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.294;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.684;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1231:.	18	0	1	0
chr1	18854842	18854842	C	G	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon3:c.G628C:p.V210L	.	423	1098	1	0	0	1	0.000455166	.	.	.	2341610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0487834584926	0.0003	.	0.0003	0	0	0	0	0.0004	0.0012	0.0007	0.0002329	36	154602	rs200290887	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0008	0.0007	0	0.0002	0	0	0	0	0.0003	0.0002	0.0009	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0001	0	0	0	0.0034	0.0004	0	0.0010	0.09	0.31987	T	0.452	0.12884	T	0.223	0.30377	B	0.176	0.35644	B	0.132296	0.18592	N	0.394376	1	0.08975	N	2.595	0.75868	M	-1.73	0.83327	D	-0.88	0.23808	N	0.262	0.29659	-0.6796	0.61391	T	0.419	0.76516	T	10	0.07865849	0.12563	T	0.048783	0.63527	D	0.170	0.43303	0.706	0.84236	0.318828661733	0.31499	0.6556998600835356	0.65505	0.194938202051	0.21832	0.341917932034	0.16724	T	0.088212	0.38109	T	-0.316928	0.07153	T	-0.313526	0.43278	T	0.0326941483095508	0.02420	T	0.755224	0.37818	T	0.28677925	0.51691	0.2953769	0.55569	0.28677925	0.51691	0.2953769	0.55568	-7.6	0.58311	D	.	.	0.208	0.43462	B	.	.	1.061032	0.14430	11.00	0.93545143678016951	0.23374	0.28727	0.23632	N	AEFDGBHCI	0.165609	0.29212	N	-0.700858053578635	0.15997	0.8112163	-0.76798502995914	0.15281	0.8028934	0.999954539220017	0.48110	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.99	1.38	0.21262	0.835000	0.27184	-0.783000	0.07446	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.0:0.7056:0.0:0.2944	8.387	0.31669	946	0.12043	Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1386.33	175	chr1	18854842	.	C	G	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.727;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	18	0	1	0
chr1	18908644	18908644	C	T	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon9:c.G1471A:p.V491M	.	426	1057	37	2	0	41	0.0190255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0031	0.0191693	0.0174	0.0009	0.0148	0.0356	0.0081	0.0050	0.0124	0.0363	0.0039003	603	154602	rs41273179	0.0064	0.0061	0.0054	0.0074	0.0423	0.0063	0.0063	0.0411	0.0406	0.0006	0.0019	0.0043	0.0334	0.0086	0.0133	0.0030	0.0083	0.0423	0.0057	0.0057	0.0046	0.0068	0.0473	0.0054	0.0052	0.0423	0.0404	0.0006	0.0022	0.0024	0.0049	0.0355	0.0094	0.0102	0.0037	0.0071	0.0473	0.037	0.46129	D	0.108	0.38160	T	0.037	0.20876	B	0.01	0.14941	B	0.256265	0.15405	N	0.641027	0.550871	0.31335	N	0.695	0.17993	N	-1.95	0.85003	D	-0.71	0.34198	N	0.071	0.04426	-0.7802	0.56291	T	0.131	0.44208	T	10	0.0031760335	0.00053	T	.	.	.	0.253	0.56294	.	.	.	.	0.36122193198083963	0.36036	0.947121618787	0.72452	0.596976280212	0.52478	T	0.032376	0.22457	T	-0.362743	0.03977	T	-0.262416	0.48582	T	0.0104237281492568	0.00143	T	0.843416	0.52040	T	0.058266602	0.11703	0.060319424	0.11469	0.058266602	0.11702	0.060319424	0.11469	-7.111	0.54839	T	.	.	0.102	0.17953	B	.;.	.;.	3.218122	0.43831	21.8	0.99769784996725919	0.85834	0.86019	0.45224	D	AEFDBCIJ	0.167416	0.29409	N	-0.578870679471262	0.19586	1.026314	-0.47430069681771	0.22865	1.244038	0.999999369034663	0.74766	0.75658	0.98901	0	0.698795	0.70079	0	0.616094	0.41390	0	0.656636	0.63459	0	.	.	4.5	-0.586	0.11108	2.282000	0.43122	0.092000	0.14529	0.599000	0.40250	0.965000	0.33920	0.002000	0.18203	1.000000	0.97212	0.0:0.6456:0.0:0.3544	9.487	0.38102	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007659	0.000000	0.000000	0.008696	0.000000	0.000000	0.005435	0.029412	0.02632	1567.33	38	chr1	18908644	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=772;ExcessHet=0;FS=3.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.381;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	18	0	1	0
chr1	18918458	18918458	C	G	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon4:c.G867C:p.K289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0987002507574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475140329	1.419e-06	2.052e-06	2.805e-06	0	1.844e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.844e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.031	0.45039	D	0.346	0.17696	T	0.988	0.62325	D	0.613	0.51171	P	0.000106	0.50451	D	0.200575	0.999233	0.46406	D	2.14	0.59869	M	-1.97	0.85173	D	-2.91	0.60982	D	0.429	0.46835	0.142	0.84920	D	0.573	0.84549	D	10	0.4285938	0.57340	T	0.099	0.76985	D	0.413	0.72404	0.456	0.52102	0.922567126442	0.92178	0.801065137185806	0.80060	1.80411115478	0.91699	0.844749987125	0.88819	D	0.137293	0.47015	T	-0.0252901	0.48096	T	-0.274104	0.47403	T	0.949003212611583	0.63018	D	0.976602	0.91883	D	0.60837525	0.73141	0.29877147	0.55911	0.60837525	0.73142	0.29877147	0.55910	-12.512	0.87255	D	.	.	0.978	0.90737	P	.	.	3.872617	0.56234	23.7	0.99820143434753239	0.90326	0.85181	0.44292	D	AEFDBHCI	0.411150	0.48174	N	0.390391373002397	0.60901	4.284334	0.388775871793518	0.60872	4.279861	0.999999882887717	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	1.882000	0.39283	2.066000	0.30419	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9209:0.0:0.0791	12.928	0.57668	940	0.13648	Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	112.36	36	chr1	18918458	.	C	G	112.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.97;DP=1211;ExcessHet=0;FS=126.029;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=0.652;SOR=6.735	GT:AD:DP:GQ:PL	0/0:78,0:78:76:0,76,2026	18	0	1	0
chr1	19105836	19105836	A	C	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon84:c.T12400G:p.F4134V	.	414	1107	1	0	0	1	0.000451467	.	.	.	2812399	not_provided|UBR4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.598	0.111055851717	0.0014	0.000599042	0.0018	0.0001	0.0004	0	0.0010	0.0027	0.0017	0.0009	0.0012484	193	154602	rs143516447	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0002	0	0	0.0010	0.0004	0.0019	0.0011	0.0009	0.0009	0.0009	0.0011	0.0006	0.0015	0.0007	0.0007	0.0013	0.0012	0.0004	0	0.0003	0	0	0.0006	0	0.0015	0.0009	0.0004	0.0	0.91255	D	.	.	.	0.967	0.56408	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	1.37	0.34253	T	-6.22	0.90450	D	0.908	0.90932	-0.6257	0.63751	T	0.216	0.57784	T	10	0.17536587	0.32464	T	0.111056	0.78868	D	0.598	0.84074	.	.	0.363336886782	0.35939	0.7365250772052391	0.73597	1.94698254813	0.93348	0.850374221802	0.89671	D	0.660158	0.89791	D	-0.0246774	0.48184	T	0.178546	0.81912	D	0.0935679963207647	0.11635	T	0.944206	0.78893	D	0.8856905	0.90141	0.7112044	0.82963	0.8856905	0.90142	0.7112044	0.82964	-7.072	0.54558	T	.	.	0.989	0.93416	P	.	.	3.489550	0.48768	22.7	0.98803259635078744	0.46493	0.98998	0.89743	D	AEFDBI	0.906518	0.85938	D	0.783787773975052	0.85081	8.471121	0.751580618165672	0.86275	8.837313	0.999999336169779	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	8.735000	0.91247	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	14.198	0.65227	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1158.33	33	chr1	19105836	.	A	C	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.595;DP=725;ExcessHet=0;FS=5.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.928;SOR=1.297	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1264	18	0	1	0
chr1	19119676	19119676	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon70:c.C10336T:p.L3446F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0102062196391	.	.	8.245e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs764267724	3.424e-06	3.42e-06	4.086e-06	2.755e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.238e-05	0	0	0	0.0002	9.004e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	0.66	0.16226	N	-0.16	0.65378	T	-1.59	0.38345	N	0.69	0.69562	-0.9163	0.46050	T	0.164	0.50176	T	10	0.32360423	0.49695	T	0.010206	0.26478	T	0.068	0.19811	0.301	0.26843	0.043077524339	0.03247	0.22467990814059002	0.22382	1.86334380764	0.92429	0.801972150803	0.82264	T	0.235805	0.60314	T	-0.156293	0.27332	T	-0.280753	0.46728	T	0.486415266990662	0.32133	T	0.973903	0.90628	D	0.14832357	0.33866	0.16086681	0.37447	0.14832357	0.33866	0.16086681	0.37446	-5.848	0.44990	T	.	.	0.144	0.31733	B	.	.	3.860315	0.55978	23.7	0.99661549509175684	0.77947	0.95997	0.67068	D	AEFBI	0.290906	0.40217	N	-0.0581046289025043	0.39241	2.310926	0.133882127440065	0.46294	2.877676	0.791626923026973	0.24025	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	4.309000	0.58928	10.040000	0.83183	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.15:0.0:0.85:0.0	11.018	0.46917	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	819.33	34	chr1	19119676	.	G	A	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.442;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.81;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1103	18	0	1	0
chr1	19128998	19128998	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon61:c.C8983T:p.R2995W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.00747657846338	0.0002	.	3.297e-05	9.612e-05	0	0	0	2.998e-05	0	6.057e-05	2.59e-05	4	154602	rs138409903	7.662e-05	7.661e-05	6.67e-05	8.663e-05	9.263e-05	6.49e-05	6.07e-05	7.773e-05	7.259e-05	0	0	0	0	0	0	9.263e-05	4.967e-05	6.956e-05	4.603e-05	5.254e-05	6.427e-05	2.692e-05	7.35e-05	2.11e-05	1.528e-05	2.846e-05	1.858e-05	4.831e-05	0	0	0	0	0	0	7.35e-05	0	0	0.009	0.63226	D	.	.	.	0.99	0.63424	D	0.454	0.46241	P	0.000003	0.62929	D	0.061993	0.999999	0.58761	D	1.355	0.33814	L	1.8	0.25344	T	-3.91	0.74980	D	0.735	0.73555	-1.0493	0.14593	T	0.084	0.32872	T	10	0.5294112	0.63097	D	0.007477	0.19846	T	0.360	0.68052	.	.	0.0934897674506	0.08844	0.5295422979113775	0.52878	1.55211242862	0.87918	0.740754842758	0.73083	T	0.647524	0.89264	D	-0.0733474	0.40790	T	-0.161607	0.58208	T	0.876450538635254	0.52632	D	0.986701	0.97178	D	0.29742086	0.52672	0.26898026	0.52773	0.29742086	0.52672	0.26898026	0.52772	-10.921	0.79223	D	.	.	0.336	0.55658	B	.;.;.	.;.;.	4.669506	0.74619	26.2	0.99926739832192935	0.99103	0.99852	0.99838	D	AEFBI	0.924086	0.90157	D	0.642531244295521	0.75887	6.385953	0.688449266048391	0.81500	7.541566	0.999999999996275	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	9.362000	0.96534	9.979000	0.82911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.115	0.93318	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1026.33	33	chr1	19128998	.	G	A	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.232;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr1	19148583	19148583	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon50:c.G7474A:p.V2492I	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00546704469712	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs61759877	2.873e-05	2.873e-05	3.403e-05	2.338e-05	0.0002	2.151e-05	1.908e-05	2.37e-05	2.103e-05	2.987e-05	0	0	5.038e-05	1.872e-05	0.0002	3.237e-05	0	1.159e-05	1.969e-05	1.968e-05	0	4.028e-05	6.536e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	6.536e-05	0	0	0	0	0	0	0	0.051	0.41364	T	.	.	.	0.984	0.60733	D	0.786	0.57542	P	0.000019	0.62929	D	0.068468	0.999273	0.46519	D	0.55	0.14455	N	1.9	0.23486	T	0.22	0.06138	N	0.268	0.30347	-1.1296	0.01801	T	0.074	0.29992	T	10	0.16216591	0.30399	T	0.005467	0.14075	T	0.104	0.29647	0.184	0.09259	0.043077524339	0.03247	0.13521233406557595	0.13445	0.35137811261	0.36978	0.567926883698	0.48385	T	0.113531	0.43064	T	-0.353836	0.04491	T	-0.520335	0.20261	T	0.179657131726074	0.19213	T	0.886711	0.61387	D	0.05942053	0.12075	0.07214782	0.15532	0.05942053	0.12074	0.07214782	0.15531	-3.822	0.21134	T	.	.	0.073	0.22318	B	.;.;.	.;.;.	4.035013	0.59692	24.1	0.99184591680254874	0.54789	0.96571	0.69807	D	AEFDGBI	0.219733	0.34458	N	0.355337207478449	0.59022	4.078347	0.408406707604432	0.62088	4.418469	0.999997516085046	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	2.982000	0.49027	7.689000	0.65692	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1526:0.8473:0.0:0.0	13.874	0.63139	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1449.33	35	chr1	19148583	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.967;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.484;SOR=0.639	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr1	19152467	19152467	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon47:c.C6842T:p.T2281M	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00406380927948	.	0.000199681	0.0002	0	0.0002	0	0	0	0.0022	0.0016	0.0002135	33	154602	rs368120030	0.0001	0.0001	4.765e-05	0.0002	0.0015	8.849e-05	8.334e-05	0.0013	0.0012	0	0	0	0	0	0	6.296e-06	0.0002	0.0015	6.565e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.102	0.32453	T	.	.	.	0.923	0.51194	P	0.271	0.39904	B	0.000001	0.84330	D	0.055849	0.999977	0.53665	D	0.895	0.22405	L	2.51	0.14284	T	-1.7	0.40468	N	0.372	0.41360	-1.0190	0.24041	T	0.040	0.17149	T	10	0.032751113	0.01433	T	0.004064	0.09681	T	0.135	0.36572	0.286	0.24440	0.043077524339	0.03247	0.3719860059849467	0.37112	0.566655448211	0.52949	0.657429873943	0.61041	T	0.225235	0.58991	T	-0.433249	0.01417	T	-0.414123	0.31751	T	0.140322286503461	0.16303	T	0.966303	0.87634	D	0.07796405	0.17727	0.10409467	0.24993	0.07797805	0.17729	0.09896753	0.23613	-5.535	0.42194	T	.	.	0.091	0.13080	B	.;.	.;.	5.033818	0.83744	28.1	0.9983616438263937	0.91714	0.98921	0.88653	D	AEFGBHI	0.847633	0.76448	D	0.299713621762942	0.56134	3.777764	0.372245962464134	0.59858	4.167473	0.99999999748066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	4.46	0.53567	7.300000	0.78169	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:0.8615:0.1385	15.625	0.76598	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	801.33	33	chr1	19152467	.	G	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=693;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.158;SOR=0.919	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1310	18	0	1	0
chr1	19241081	19241081	C	T	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon5:c.G505A:p.V169I,EMC1:NM_001271427:exon6:c.G571A:p.V191I,EMC1:NM_001271428:exon6:c.G571A:p.V191I,EMC1:NM_001375820:exon6:c.G571A:p.V191I,EMC1:NM_001375821:exon6:c.G571A:p.V191I,EMC1:NM_015047:exon6:c.G571A:p.V191I	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00405222346217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.498	0.08237	T	0.432	0.16280	T	0.051	0.22415	B	0.027	0.21085	B	0.177804	0.17186	N	0.617291	1	0.08975	N	1.01	0.25309	L	1.51	0.39990	T	-0.24	0.12283	N	0.097	0.09066	-1.0352	0.18794	T	0.058	0.24465	T	10	0.050166994	0.04709	T	0.004052	0.09650	T	0.108	0.30607	0.557	0.67547	0.225902525712	0.22197	0.08703749602051532	0.08637	0.252110570598	0.27777	0.265731453896	0.05592	T	0.002878	0.02278	T	-0.344713	0.05068	T	-0.732933	0.04195	T	0.0249119517280271	0.01261	T	0.843016	0.53646	T	0.025606	0.01518	0.030513069	0.01517	0.025606	0.01518	0.030513069	0.01517	-4.134	0.25789	T	0.2381981153695485	0.32261	0.072	0.06341	B	.;.;.	.;.;.	0.438756	0.08091	4.816	0.8865439610703818	0.18147	0.25091	0.22594	N	AEFDGBCI	0.052000	0.09241	N	-0.957655179195126	0.09522	0.4510181	-0.964088325012384	0.10598	0.5347765	0.99963051140652	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	-2.25	0.06498	-0.730000	0.05019	-0.699000	0.07803	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.3232:0.339:0.3379	6.043	0.18972	779	0.47767	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	33	chr1	19241081	.	C	T	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.103;DP=766;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.208;SOR=0.6	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1398	18	0	1	0
chr1	19267392	19267392	C	T	exonic	AKR7L	.	unknown	UNKNOWN	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00111682448417	7.7e-05	.	8.264e-06	9.762e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs370338457	2.394e-05	2.463e-05	2.042e-05	2.75e-05	0.0003	1.739e-05	1.539e-05	6.094e-05	2.522e-05	2.987e-05	2.236e-05	0	0	0	0.0003	2.698e-05	1.656e-05	0	3.945e-05	3.94e-05	2.57e-05	5.384e-05	6.555e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	6.555e-05	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.645793	0.05894	N	1.175910	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.042	0.01498	-1.0030	0.29050	T	0.027	0.11441	T	9	0.023538291	0.00618	T	0.001117	0.01360	T	0.020	0.03691	.	.	0.0666544352282	0.05500	.	.	0.3598936142	0.37679	.	.	.	.	.	.	-0.0432019	0.45472	T	-0.284347	0.46357	T	0.0581038221716881	0.06867	T	0.105489	0.00786	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.21950	B	.	.	-1.038345	0.00718	0.021	0.91283221524503122	0.20543	0.01143	0.04142	N	AEFBI	0.079031	0.15956	N	-1.29713427536567	0.03710	0.1662178	-1.38859877796895	0.03373	0.1571862	0.170754721931624	0.17732	0.078448	0.01964	0	0.097471	0.02872	0	0.076283	0.02329	2	0.062806	0.01542	0	.	.	3.55	-6.03	0.02001	-1.393000	0.02627	-7.705000	0.01102	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.652000	0.32748	0.1319:0.5607:0.1329:0.1745	3.749	0.08085	709	0.56835	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2622.33	44	chr1	19267392	.	C	T	2622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.273;DP=911;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.11;MQRankSum=0.01;QD=14.82;ReadPosRankSum=1.3;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr1	19683281	19683281	G	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon15:c.C1664T:p.T555I,TMCO4:NM_001349113:exon16:c.C1664T:p.T555I,TMCO4:NM_181719:exon16:c.C1664T:p.T555I,TMCO4:NM_001349114:exon17:c.C1664T:p.T555I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00606362847961	0.0004	0.000599042	0.0002	0.0022	0	0	0	0	0	0	0.0001682	26	154602	rs147916679	6.909e-05	6.909e-05	6.67e-05	7.151e-05	0.0022	5.78e-05	5.391e-05	0.0018	0.0016	0.0022	0	0	0	0	0	6.295e-06	0.0003	4.637e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0016	0.0015	0.0020	0	6.533e-05	0	0	0	0	0	0	0	0.196	0.20683	T	0.128	0.34959	T	0.0	0.02946	B	0.001	0.04355	B	0.909385	0.07406	N	1.047360	1	0.08975	N	0.425	0.12573	N	1.59	0.28836	T	-1.05	0.27463	N	0.015	0.00181	-1.0126	0.26101	T	0.028	0.11838	T	10	0.0043299496	0.00088	T	0.006064	0.15846	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.29699917040534185	0.29612	0.109546389189	0.12354	0.315559476614	0.12748	T	0.004333	0.03739	T	-0.678847	0.00049	T	-0.753441	0.03354	T	0.00406862965580875	0.00043	T	0.415058	0.10864	T	0.028174791	0.02114	0.037233103	0.03333	0.028174791	0.02114	0.037233103	0.03333	-4.718	0.33622	T	.	.	0.071	0.03736	B	.	.	0.316909	0.06918	3.458	0.56877147220818591	0.05647	0.02471	0.06932	N	AEFBI	0.076732	0.15444	N	-1.54218070723026	0.01580	0.06906251	-1.53710742562973	0.02066	0.09447034	0.75827734157922	0.23469	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.86	-0.49	0.11448	-0.211000	0.09336	1.366000	0.25918	-0.104000	0.15758	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.3888:0.0:0.4893:0.1218	6.044	0.18978	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	35	chr1	19683281	.	G	A	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=766;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=0.535;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,100,1172:.	18	0	1	0
chr1	19683282	19683282	T	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon15:c.A1663T:p.T555S,TMCO4:NM_001349113:exon16:c.A1663T:p.T555S,TMCO4:NM_181719:exon16:c.A1663T:p.T555S,TMCO4:NM_001349114:exon17:c.A1663T:p.T555S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00782672852581	0.0005	0.000599042	0.0002	0.0022	0	0	0	0	0	0	0.0001682	26	154602	rs140421144	6.43e-05	6.43e-05	6.398e-05	6.463e-05	0.0022	5.361e-05	4.976e-05	0.0018	0.0016	0.0022	0	0	0	0	0	1.799e-06	0.0003	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0017	0.0015	0.0020	0	6.549e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.264	0.22761	T	0.01	0.15535	B	0.006	0.12133	B	0.909385	0.07406	N	1.047360	1	0.81001	D	0.975	0.24501	L	1.53	0.30401	T	-0.18	0.09796	N	0.035	0.01004	-0.9963	0.30946	T	0.032	0.13767	T	10	0.0044903457	0.00092	T	0.007827	0.20773	T	0.029	0.06676	0.095	0.01241	0.0138822411134	0.00435	0.2087822265961476	0.20794	0.0921031887478	0.10402	0.283303678036	0.07957	T	0.001946	0.01356	T	-0.638286	0.00085	T	-0.695178	0.06093	T	0.00384488933348667	0.00041	T	0.341666	0.07415	T	0.043229222	0.06699	0.028889308	0.01168	0.043229222	0.06698	0.028889308	0.01168	-2.956	0.09715	T	.	.	0.075	0.05579	B	.	.	-0.214740	0.03016	0.459	0.56225160280624886	0.05507	0.13395	0.17832	N	AEFBI	0.140188	0.26201	N	-1.26689533235911	0.04081	0.1835094	-1.28049444874435	0.04694	0.2220224	0.731346814289818	0.23048	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.86	-0.0119	0.13315	-0.105000	0.10876	0.191000	0.15744	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4763:0.0:0.5237	7.900	0.28890	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	35	chr1	19683282	.	T	A	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=768;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=1.25;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,100,1172:.	18	0	1	0
chr1	20501217	20501217	G	A	exonic	MUL1	.	nonsynonymous SNV	MUL1:NM_024544:exon4:c.C532T:p.R178W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0253318857564	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758966256	2.736e-06	2.736e-06	4.084e-06	1.375e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	1.74	0.26301	T	-6.2	0.90371	D	0.553	0.57860	-0.8961	0.48380	T	0.141	0.46110	T	10	0.47647715	0.60173	T	0.025332	0.48303	D	0.248	0.55615	0.267	0.21418	0.584212540733	0.58094	0.8106831030756697	0.81023	1.1607949559	0.79478	0.709445595741	0.68513	T	0.300498	0.67298	T	0.0310162	0.55858	T	-0.0963697	0.63678	T	0.994936466217041	0.86546	D	0.949705	0.80662	D	0.5844696	0.71851	0.5578345	0.74422	0.5844696	0.71853	0.5578345	0.74422	-11.467	0.82157	D	.	.	0.478	0.63557	A	.	.	4.978622	0.82446	27.8	0.99923225009247685	0.98917	0.92280	0.55349	D	AEFBCI	0.665731	0.63444	D	0.563223406933371	0.70892	5.56859	0.519573769777017	0.69307	5.341886	0.810163962873559	0.24341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.05	0.34272	4.504000	0.60135	5.027000	0.46794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.5937:0.4063	13.359	0.60088	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1419.33	34	chr1	20501217	.	G	A	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=770;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.473;SOR=0.836	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1192	18	0	1	0
chr1	20664763	20664763	C	T	splicing	KIF17	NM_001287212:exon15:c.2612-1G>A;NM_001122819:exon15:c.2909-1G>A;NM_020816:exon15:c.2912-1G>A	.	.	.	424	1095	3	0	0	3	0.00136799	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0008	9.675e-05	8.714e-05	0	0	1.509e-05	0	0.0055	0.000718	111	154602	rs576462222	0.0004	0.0004	0.0002	0.0005	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	0	0	0.0002	3.598e-06	0.0007	0.0062	0.0003	0.0003	0.0001	0.0005	0.0083	0.0002	0.0002	0.0063	0.0055	4.815e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0275931	0.47766	T	0.190061	0.82573	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.757355	0.93411	33	0.99419534178236124	0.63694	0.82333	0.41576	D	AEFDGBI	.	.	.	0.970856035109557	0.94777	13.03053	0.786695470075071	0.88852	9.740966	0.999128856135022	0.38507	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.062806	0.01542	0	0.960897	0.65746	5.21	4.24	0.49486	2.221000	0.42559	7.652000	0.63756	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.840000	0.39645	0.0:0.8361:0.1639:0.0	12.958	0.57841	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	860.33	35	chr1	20664763	.	C	T	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.8;SOR=0.622	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1435	18	0	1	0
chr1	20687482	20687482	G	A	exonic	KIF17	.	nonsynonymous SNV	KIF17:NM_001122819:exon8:c.C1844T:p.P615L,KIF17:NM_001287212:exon8:c.C1544T:p.P515L,KIF17:NM_020816:exon8:c.C1844T:p.P615L	.	390	1130	2	0	0	2	0.000884173	.	.	.	2831978	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.332	0.0401550087944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158816257	9.578e-06	9.577e-06	8.168e-06	1.1e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	3.478e-05	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.176	0.29843	T	1.0	0.90584	D	0.977	0.73820	D	0.425285	0.12819	U	0.585685	0.99875	0.45389	D	1.1	0.28011	L	-0.56	0.71187	T	-2.0	0.46146	N	0.626	0.66959	-0.1711	0.78401	T	0.469	0.79546	T	10	0.68780684	0.71669	D	0.040155	0.59218	D	0.332	0.65424	0.386	0.40624	0.863687763449	0.86236	0.35689205709592076	0.35603	0.212277476401	0.23727	0.377702593803	0.21930	T	0.02359	0.17979	T	0.0152741	0.53744	T	-0.046708	0.67247	D	0.548565451403183	0.34424	D	0.858514	0.54939	D	0.10962763	0.25919	0.18766001	0.42011	0.10962763	0.25918	0.18766001	0.42010	-3.731	0.19776	T	.	.	0.471	0.63214	A	.;.;.	.;.;.	3.967806	0.58246	24.0	0.99888079286665565	0.96281	0.89699	0.50332	D	AEFBI	0.289401	0.40106	N	0.362510063431277	0.59404	4.119461	0.33053025403612	0.57339	3.899494	0.999944416411925	0.47345	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567339	0.31927	0	.	.	4.84	4.84	0.62125	4.059000	0.57184	7.659000	0.64126	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	13.650	0.61777	776	0.48302	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1709.33	45	chr1	20687482	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=753;ExcessHet=0;FS=16.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.291;SOR=0.158	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1391	18	0	1	0
chr1	20941650	20941650	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.A1336G:p.I446V,EIF4G3:NM_001198801:exon11:c.A1333G:p.I445V,EIF4G3:NM_001198802:exon12:c.A1354G:p.I452V,EIF4G3:NM_001198803:exon12:c.A1369G:p.I457V	.	420	1075	25	2	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0011	0.00319489	0.0025	0.0002	8.64e-05	0	0.0002	0.0011	0	0.0142	0.0022574	349	154602	rs141254078	0.0015	0.0015	0.0011	0.0020	0.0143	0.0015	0.0015	0.0137	0.0134	0.0002	0.0002	0.0001	2.519e-05	7.488e-05	0.0071	0.0008	0.0015	0.0143	0.0012	0.0012	0.0010	0.0014	0.0182	0.0010	0.0010	0.0152	0.0140	0.0001	0	0.0002	0	0	0	0.0136	0.0012	0.0005	0.0182	0.37	0.11550	T	0.657	0.07617	T	0.001	0.07471	B	0.009	0.14300	B	0.098616	0.19972	N	0.568044	0.998948	0.45735	D	0	0.06538	N	2.07	0.20387	T	0.28	0.04233	N	0.044	0.03069	-1.0187	0.24139	T	0.017	0.07045	T	10	0.0032545626	0.00056	T	.	.	.	0.037	0.09474	.	.	0.179529687257	0.17594	0.0927177310028373	0.09203	0.120064589103	0.13520	0.295090973377	0.09671	T	0.019541	0.15549	T	-0.645134	0.00078	T	-0.68779	0.06517	T	0.0143492687051511	0.00287	T	0.560444	0.22396	T	0.013733779	0.00068	0.021160658	0.00177	0.013733779	0.00068	0.021160658	0.00177	-2.383	0.06489	T	.	.	0.060	0.01934	B	.;.;.;.;.	.;.;.;.;.	0.890678	0.12639	9.166	0.55373431277798246	0.05329	0.63940	0.32247	D	AEFGBI	0.081120	0.16412	N	-0.732462532457361	0.15114	0.7588709	-0.602388170348881	0.19431	1.042507	2.90097384826224E-4	0.06355	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.02	-0.899	0.10012	0.509000	0.22414	-1.154000	0.06172	0.665000	0.62972	0.998000	0.41325	0.001000	0.17328	0.952000	0.50033	0.2543:0.1642:0.2931:0.2884	0.383	0.00371	686	0.59327	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.002717	0.000000	0.100000	0.000000	0.003049	0.011364	0.02632	1817.33	36	chr1	20941650	.	T	C	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.899;DP=775;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.11;SOR=0.595	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	18	0	1	0
chr1	20941851	20941851	C	T	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon9:c.G1135A:p.E379K,EIF4G3:NM_001198801:exon11:c.G1132A:p.E378K,EIF4G3:NM_001198802:exon12:c.G1153A:p.E385K,EIF4G3:NM_001198803:exon12:c.G1168A:p.E390K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0145515754683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.276	0.45744	T	0.877	0.48223	P	0.257	0.39298	B	0.002422	0.36574	N	0.273029	0.99996	0.81001	D	1.995	0.54099	M	1.96	0.22270	T	-0.7	0.19933	N	0.471	0.50688	-1.1133	0.02801	T	0.085	0.33128	T	10	0.2741444	0.44967	T	0.014552	0.34740	T	0.162	0.41843	0.396	0.42262	0.372852800391	0.36900	0.4314676345023133	0.43063	0.673703268279	0.59604	0.556905686855	0.46831	T	0.066206	0.32886	T	0.0285489	0.55529	T	-0.196768	0.54953	T	0.74482100063323	0.42999	D	0.975602	0.91418	D	0.11005329	0.26015	0.10611806	0.25522	0.11005329	0.26015	0.10611806	0.25521	-5.496	0.44540	T	.	.	0.126	0.60936	B	.;.;.;.;.	.;.;.;.;.	4.312393	0.65933	24.9	0.99925835285536457	0.99042	0.97129	0.72859	D	AEFBI	0.613241	0.60100	D	0.537694057187447	0.69337	5.342475	0.623315558031983	0.76636	6.527797	0.997820136740615	0.36074	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.243000	0.65217	6.034000	0.52951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.809	0.92016	686	0.59327	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	36	chr1	20941851	.	C	T	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.782;DP=813;ExcessHet=0;FS=2.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.575;SOR=0.499	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	18	0	1	0
chr1	21238138	21238138	C	T	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon9:c.G1349A:p.S450N,ECE1:NM_001113349:exon10:c.G1376A:p.S459N,ECE1:NM_001113348:exon11:c.G1337A:p.S446N,ECE1:NM_001397:exon11:c.G1385A:p.S462N	.	0	1509	13	0	0	13	0.00428901	.	.	.	249709	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0136730346543	0.0029	0.00219649	0.0030	0.0014	0.0012	0	0.0008	0.0042	0.0022	0.0027	0.0031565	488	154602	rs141146885	0.0047	0.0048	0.0049	0.0046	0.0057	0.0046	0.0046	0.0056	0.0055	0.0008	0.0021	0.0022	0	0.0007	0.0024	0.0057	0.0037	0.0019	0.0033	0.0033	0.0039	0.0028	0.0052	0.0031	0.0030	0.0048	0.0046	0.0011	0.0439	0.0023	0.0020	0	0.0008	0	0.0052	0.0047	0.0019	0.383	0.14793	T	0.415	0.15305	T	0.0	0.02946	B	0.0	0.04355	B	0.037610	0.24381	N	0.508327	0.988695	0.24382	N	-0.055	0.04927	N	-0.79	0.73739	T	-0.65	0.20145	N	0.085	0.10626	-1.0541	0.13278	T	0.100	0.37265	T	10	0.0057007372	0.00127	T	0.013673	0.33248	T	0.082	0.23913	.	.	0.256237801699	0.25221	0.37178015656178914	0.37092	0.539398488263	0.51172	0.328603953123	0.14722	T	0.186706	0.54008	T	-0.588258	0.00172	T	-0.611229	0.11885	T	0.00204115745109703	0.00021	T	0.728927	0.36808	T	0.057204656	0.11356	0.05784996	0.10590	0.07784044	0.17692	0.06402025	0.12767	-3.884	0.32121	T	0.10285320044975772	0.07865	0.055	0.00647	B	.;.;.;.;.;.	.;.;.;.;.;.	1.411872	0.18276	13.65	0.85322012358596189	0.15821	0.23980	0.22249	N	AEFDGBHCI	0.095255	0.19248	N	-0.765677098490011	0.14212	0.7060748	-0.600060566350599	0.19491	1.045999	0.999424051776111	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.711	0.71501	0	.	.	5.55	0.51	0.16183	1.049000	0.30001	0.450000	0.18513	-0.181000	0.10308	0.998000	0.41325	0.998000	0.33993	0.905000	0.44082	0.1351:0.2448:0.14:0.4801	1.278	0.01912	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1206.33	33	chr1	21238138	.	C	T	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.243;DP=724;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.828;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	18	0	1	0
chr1	21245077	21245077	T	C	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon8:c.A1154G:p.N385S,ECE1:NM_001113349:exon9:c.A1181G:p.N394S,ECE1:NM_001113348:exon10:c.A1142G:p.N381S,ECE1:NM_001397:exon10:c.A1190G:p.N397S	.	0	1513	8	1	0	10	0.00329381	.	.	.	761541	not_provided|ECE1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	.	0.00259585	0.0013	0	0.0003	0	0	0.0003	0.0011	0.0079	0.0011902	184	154602	rs145301395	0.0007	0.0007	0.0005	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0002	0.0008	0	0	0.0026	0.0002	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0039	0.0034	2.405e-05	0	0.0012	0.0003	0	0	0	0.0002	0.0005	0.0056	0.021	0.50676	D	0.115	0.40747	T	0.043	0.21573	B	0.016	0.21085	B	0.000000	0.84330	D	0.087520	0.999564	0.47592	D	1.08	0.27187	L	-0.69	0.72678	T	-1.61	0.39314	N	0.642	0.66615	-0.7970	0.55321	T	0.221	0.58459	T	10	0.012654036	0.00271	T	.	.	.	0.116	0.32463	.	.	0.683380910013	0.68067	0.2869067786071827	0.28603	0.51859878358	0.49709	0.37147206068	0.21044	T	0.337245	0.70666	T	-0.364525	0.03881	T	-0.291826	0.45582	T	0.0445283127503575	0.04517	T	0.953005	0.88325	D	0.22118284	0.44690	0.12763987	0.30722	0.2361329	0.46459	0.13934748	0.33250	-5.232	0.41111	T	0.15735805619011872	0.18996	0.132	0.31931	B	.;.;.;.;.;.	.;.;.;.;.;.	3.262486	0.44627	22.0	0.99678396845201622	0.79108	0.89477	0.49966	D	AEFDBHCI	0.688451	0.64945	D	-0.160813510615294	0.34777	1.989138	0.0108562006493672	0.40217	2.396702	0.999999993438619	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.55	4.41	0.52588	4.727000	0.61687	4.163000	0.42223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1483:0.8517	11.707	0.50866	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1414.33	34	chr1	21245077	.	T	C	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.219;SOR=0.633	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1446	18	0	1	0
chr1	21833291	21833291	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon80:c.C11075T:p.T3692I,HSPG2:NM_005529:exon80:c.C11072T:p.T3691I	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1495	27	0	0	27	0.00894929	.	.	.	280493	Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome|not_provided|HSPG2-related_disorder|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.424	0.245285414436	0.0004	0.000998403	0.0011	0.0003	0.0004	0.0001	0	0.0008	0.0011	0.0044	0.0009767	151	154602	rs149159881	0.0008	0.0008	0.0006	0.0010	0.0050	0.0008	0.0008	0.0036	0.0035	0.0001	0.0003	0.0036	0	1.872e-05	0.0050	0.0006	0.0012	0.0039	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0005	0.0029	0.0024	0.0002	0	0.0003	0.0040	0	0	0.0068	0.0007	0.0009	0.0044	0.009	0.57480	D	0.003	0.76473	D	0.985	0.61118	D	0.756	0.56253	P	0.029252	0.25481	N	0.190770	0.934839	0.37101	D	1.91	0.51138	L	-1.26	0.79176	T	-3.61	0.69477	D	0.63	0.64393	-0.2124	0.77351	T	0.408	0.75699	T	10	0.026100904	0.00785	T	0.245285	0.88879	D	0.424	0.73226	.	.	0.804346720858	0.80252	0.7205405142043676	0.71997	0.738424186528	0.63111	0.578872740269	0.49927	T	0.757462	0.93402	D	-0.301434	0.08525	T	-0.206047	0.54072	T	0.0420120737277858	0.04057	T	0.753825	0.37593	T	0.18076812	0.39214	0.2068992	0.44925	0.18076812	0.39213	0.2068992	0.44924	-7.952	0.60742	D	.	.	0.179	0.39029	B	.	.	4.625571	0.73491	26.0	0.99626276538485226	0.75716	0.94471	0.61272	D	AEFDBCI	0.661576	0.63175	D	0.298963999101559	0.56097	3.77389	0.2852595295617	0.54677	3.632083	0.254999135574149	0.18723	0.67177	0.52595	0	0.633656	0.55848	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.81	2.68	0.30839	4.719000	0.61629	8.221000	0.76826	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0866:0.0:0.7638:0.1496	9.693	0.39308	862	0.33134	Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1424.33	36	chr1	21833291	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.428;DP=856;ExcessHet=0;FS=7.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.19;SOR=1.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	18	0	1	0
chr1	21847474	21847474	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon62:c.C8047T:p.R2683W,HSPG2:NM_005529:exon62:c.C8044T:p.R2682W	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	279337	not_specified|Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.102582270378	0.0019	0.000199681	0.0018	0.0004	0.0003	0	0.0024	0.0028	0.0011	0.0004	0.0018176	281	154602	rs142458572	0.0027	0.0027	0.0026	0.0027	0.0135	0.0026	0.0026	0.0111	0.0102	0.0004	0.0007	0.0044	0	0.0018	0.0135	0.0030	0.0029	0.0003	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0027	0.0026	0.0004	0	0.0008	0.0040	0	0.0015	0.0102	0.0031	0.0047	0.0004	0.017	0.51248	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.002521	0.36425	N	0.000000	0.999299	0.46578	D	2.62	0.76659	M	-0.39	0.69158	T	-4.61	0.79060	D	0.834	0.82964	0.177	0.85513	D	0.538	0.82960	D	10	0.14647627	0.27769	T	0.102582	0.77612	D	0.549	0.81310	.	.	0.812045843367	0.81027	0.43439531511610924	0.43356	0.795164481013	0.66010	0.541322946548	0.44632	T	0.550718	0.84783	D	-0.0875025	0.38489	T	0.098796	0.76828	D	0.0298921028318087	0.01973	T	0.90161	0.65783	D	0.25616804	0.48655	0.19854246	0.43692	0.25616804	0.48655	0.19854246	0.43691	-8.79	0.66335	D	.	.	0.178	0.38889	B	.	.	5.194660	0.87129	29.1	0.9988925561517159	0.96359	0.87433	0.46971	D	AEFBCI	0.526241	0.54868	D	0.554004034735775	0.70325	5.485179	0.429565922219069	0.63415	4.574748	0.00419080014304676	0.10449	0.67177	0.52595	0	0.633656	0.55848	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.5	2.4	0.28568	3.152000	0.50375	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:0.5659:0.4341	12.463	0.55083	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.017647	0.000000	0.017241	0.003049	0.000000	0.02632	881.33	36	chr1	21847474	.	G	A	881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=723;ExcessHet=0;FS=7.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.265;SOR=1.547	GT:AD:DP:GQ:PL	0/1:38,36:74:99:895,0,880	18	0	1	0
chr1	21872628	21872628	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon32:c.C4024T:p.R1342C,HSPG2:NM_005529:exon32:c.C4021T:p.R1341C	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.0768079569125	.	.	4.341e-05	0.0002	0	0	0	3.957e-05	0	0	3.23e-05	5	154602	rs746028887	2.717e-05	3.352e-05	3.177e-05	2.249e-05	6.028e-05	2.034e-05	1.786e-05	1.933e-05	1.678e-05	6.028e-05	0	0	0	0	0	2.725e-05	5.043e-05	4.87e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.854	0.60866	P	0.001640	0.38439	N	0.000000	1	0.81001	D	2.42	0.70002	M	-1.14	0.77843	T	-4.77	0.80425	D	0.732	0.73285	0.119	0.84510	D	0.520	0.82091	D	10	0.82899946	0.82068	D	0.076808	0.72621	D	0.612	0.84826	0.568	0.69034	0.817755219532	0.81603	0.6961079310885316	0.69551	0.910207131385	0.71029	0.57468444109	0.49339	T	0.836113	0.96134	D	0.210049	0.74835	D	0.0639441	0.74507	D	0.862087249755859	0.51242	D	0.89671	0.63922	D	0.29252493	0.52227	0.2466558	0.50180	0.29252493	0.52227	0.2466558	0.50179	-10.755	0.78297	D	.	.	0.670	0.71754	P	.	.	5.286826	0.88766	29.7	0.99914993017814835	0.98309	0.91434	0.53526	D	AEFDBHCI	0.701603	0.65824	D	0.358862150098487	0.59208	4.098455	0.255472846279264	0.52962	3.467603	0.999999699695357	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.97	3.97	0.45241	3.380000	0.52180	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.0:0.0:1.0:0.0	13.581	0.61365	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2054.33	67	chr1	21872628	.	G	A	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=1646;ExcessHet=0;FS=5.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.058;SOR=1.17	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr1	21875662	21875662	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon25:c.G3272A:p.R1091Q,HSPG2:NM_005529:exon25:c.G3269A:p.R1090Q	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1515	6	1	0	8	0.00263331	.	.	.	193044	not_provided|Schwartz-Jampel_syndrome|not_specified|Lethal_Kniest-like_syndrome	MedGen:C3661900|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:CN169374|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.113	0.0158915680689	0.0052	0.00199681	0.0053	0.0011	0.0011	0	0.0067	0.0081	0.0011	0.0022	0.0052975	819	154602	rs78889849	0.0060	0.0060	0.0060	0.0060	0.0070	0.0059	0.0059	0.0069	0.0068	0.0009	0.0020	0.0002	2.519e-05	0.0066	0.0012	0.0070	0.0047	0.0028	0.0036	0.0036	0.0038	0.0034	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0024	0	0	0.0044	0	0.0060	0.0028	0.0027	0.625	0.05229	T	0.267	0.22561	T	0.018	0.17786	B	0.021	0.19346	B	0.268642	0.15171	N	0.489268	0.545246	0.31379	N	1.41	0.35535	L	0.8	0.48769	T	-0.98	0.25986	N	0.081	0.05670	-0.9605	0.39087	T	0.074	0.29960	T	10	0.010121584	0.00226	T	0.015892	0.36869	T	0.113	0.31778	.	.	0.436455679973	0.43264	0.45333340696246427	0.45251	0.266359743726	0.29174	0.195402473211	0.00336	T	0.244806	0.61399	T	-0.578595	0.00197	T	-0.599743	0.12834	T	0.00450310987741049	0.00048	T	0.788921	0.42853	T	0.034626283	0.03922	0.042011015	0.04908	0.034626283	0.03921	0.042011015	0.04907	-5.815	0.44705	T	.	.	0.063	0.01408	B	.	.	0.555240	0.09238	6.020	0.87321564820646069	0.17144	0.69656	0.34274	D	AEFDBCI	0.169317	0.29614	N	-0.776255305198309	0.13930	0.6899439	-0.727751589620586	0.16272	0.8599625	0.952590311988808	0.28025	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	-0.511	0.11372	1.538000	0.35700	-1.277000	0.05837	-0.182000	0.10109	0.839000	0.30269	0.000000	0.08366	0.196000	0.21779	0.0:0.7105:0.0:0.2895	10.140	0.41905	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	924.33	38	chr1	21875662	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=754;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.685;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	21884636	21884636	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon13:c.G1549A:p.A517T,HSPG2:NM_005529:exon13:c.G1546A:p.A516T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	279458	Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0254161616422	0.0002	.	0.0001	0	0.0002	0	0	4.791e-05	0	0.0007	0.0001229	19	154602	rs147557804	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	2.992e-05	0.0001	0	2.519e-05	0	0.0002	0.0004	0.0004	0.0005	0.0001	0.0001	0.0002	9.4e-05	0.0002	8.659e-05	7.251e-05	0.0001	8.88e-05	0.0001	0	0.0001	0	0	0	0	0.0002	0	0	0.322	0.13479	T	0.019	0.59159	D	0.952	0.54136	P	0.202	0.36942	B	0.047075	0.23379	N	0.214512	0.63246	0.32802	D	1.5	0.37844	L	-0.95	0.75438	T	-1.23	0.31170	N	0.476	0.51137	-0.3057	0.74826	T	0.231	0.59645	T	10	0.1269109	0.24131	T	0.025416	0.48390	D	0.235	0.53788	.	.	0.67809160095	0.67535	0.48288139231107513	0.48208	0.234172988239	0.25956	0.482409179211	0.36389	T	0.27463	0.64713	T	-0.346763	0.04934	T	-0.371714	0.36687	T	0.0542815899932296	0.06237	T	0.680532	0.28920	T	0.06672677	0.14383	0.06997411	0.14811	0.06672677	0.14383	0.06997411	0.14810	-3.491	0.16306	T	.	.	0.080	0.07745	B	.	.	3.575393	0.50375	22.9	0.99820035749427738	0.90326	0.64785	0.32520	D	AEFDBHCI	0.142500	0.26495	N	0.215747891756842	0.51962	3.373572	0.26882311609224	0.53727	3.540348	0.999951760728052	0.48110	0.67177	0.52595	0	0.69481	0.67340	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.64	3.58	0.40133	1.437000	0.34601	0.802000	0.21668	-0.189000	0.09497	0.685000	0.28485	0.231000	0.23784	0.973000	0.55318	0.2361:0.7639:0.0:0.0	13.039	0.58299	781	0.47532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003817	0.02632	2173.33	33	chr1	21884636	.	C	T	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=769;ExcessHet=0;FS=10.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.914;SOR=1.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1330	18	0	1	0
chr1	21896286	21896286	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon2:c.G88A:p.D30N,HSPG2:NM_005529:exon2:c.G88A:p.D30N	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0269743568634	.	.	8.245e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs762213934	3.353e-05	3.352e-05	3.676e-05	3.026e-05	4.227e-05	2.566e-05	2.312e-05	3.257e-05	2.919e-05	0	0	0	2.519e-05	0	0	4.227e-05	0	1.159e-05	6.58e-06	6.57e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.013	0.53900	D	0.027	0.55341	D	0.555	0.38231	P	0.08	0.28873	B	0.102910	0.19771	N	0.359554	0.994361	0.23533	N	2.3	0.65703	M	-1.28	0.79376	T	-1.54	0.37375	N	0.332	0.37301	-0.7246	0.59234	T	0.268	0.63939	T	10	0.19850957	0.35823	T	0.026974	0.49839	D	0.096	0.27654	0.407	0.44066	0.656232129661	0.65336	0.3951396869012096	0.39428	0.441847054258	0.44170	0.656765520573	0.60947	T	0.276344	0.64892	T	-0.128585	0.31724	T	-0.314823	0.43139	T	0.438918203115463	0.30389	T	0.832417	0.50060	T	0.124524415	0.29216	0.09210018	0.21689	0.124524415	0.29215	0.09210018	0.21688	-4.679	0.33149	T	.	.	0.099	0.16626	B	.	.	3.028183	0.40554	21.2	0.99766532116538942	0.85500	0.55949	0.29993	D	AEFDGBCI	0.164759	0.29118	N	-0.301546662846044	0.29090	1.610124	-0.282602397302303	0.28670	1.600389	0.999999521929508	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.85	3.9	0.44240	1.153000	0.31287	5.882000	0.50656	0.589000	0.31548	0.027000	0.20232	1.000000	0.68203	0.120000	0.19168	0.0:0.8127:0.1873:0.0	11.137	0.47604	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1195.33	36	chr1	21896286	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.768;DP=737;ExcessHet=0;FS=3.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.264;SOR=1.054	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	1	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	417.33	41	chr1	21978396	.	G	A	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.37;DP=826;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-8.276;QD=5.15;ReadPosRankSum=0.688;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1471:.	18	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	417.33	41	chr1	21978398	.	C	T	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.78;DP=826;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-8.276;QD=5.15;ReadPosRankSum=0.639;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1471:.	18	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H	.	423	1089	10	0	0	10	0.00457038	.	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	334.33	41	chr1	21978416	.	A	C	334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.43;DP=825;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.97;MQRankSum=-8.549;QD=4.23;ReadPosRankSum=-1.507;SOR=1.116	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1471	18	0	1	0
chr1	21981079	21981079	G	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon4:c.G269T:p.R90L	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0197198586613	0.0008	0.000199681	0.0009	9.612e-05	0.0002	0.0001	0.0002	0.0008	0.0011	0.0035	0.0008085	125	154602	rs149443835	0.0006	0.0006	0.0004	0.0007	0.0039	0.0005	0.0005	0.0036	0.0035	0	0.0002	0.0045	0.0001	3.744e-05	0.0007	0.0003	0.0007	0.0039	0.0005	0.0005	0.0005	0.0005	0.0033	0.0004	0.0004	0.0021	0.0017	7.218e-05	0	0.0002	0.0061	0	0	0.0068	0.0004	0.0009	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.169819	0.17408	N	0.536026	0.999996	0.08975	N	-0.59	0.02258	N	-2.24	0.87194	D	-0.15	0.09297	N	0.142	0.14196	-0.8518	0.51844	T	0.241	0.60869	T	10	0.005612254	0.00124	T	0.01972	0.42154	T	0.266	0.57999	.	.	0.310458034454	0.30648	0.5725922592519525	0.57187	0.206552446464	0.23080	0.296506106853	0.09882	T	0.045023	0.26995	T	-0.34552	0.05015	T	-0.270882	0.47732	T	0.00190717742966601	0.00019	T	0.430157	0.11673	T	0.043671828	0.06848	0.06032277	0.11469	0.043671828	0.06848	0.06032277	0.11469	-5.109	0.38002	T	.	.	0.294	0.52524	B	.	.	0.431279	0.08017	4.735	0.62032878570771322	0.06859	0.09038	0.14872	N	AEFBCI	0.106334	0.21220	N	-1.41361821662513	0.02518	0.1113207	-1.28977215362319	0.04568	0.2157513	3.17237877627778E-5	0.03775	0.525926	0.21836	0	0.547309	0.14657	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.89	2.99	0.33673	2.138000	0.41764	0.044000	0.13909	-1.121000	0.01472	0.130000	0.23345	0.000000	0.08366	0.001000	0.02609	0.0815:0.0:0.6424:0.2762	8.219	0.30690	788	0.46569	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	766.33	40	chr1	21981079	.	G	T	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=-1.438;QD=8.15;ReadPosRankSum=2.4;SOR=0.714	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	22005784	22005784	G	A	exonic	CELA3A	.	nonsynonymous SNV	CELA3A:NM_005747:exon4:c.G350A:p.C117Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0818181723777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.46	0.36353	P	0.337	0.42281	B	.	.	.	.	0.998001	0.22522	N	-0.76	0.01693	N	-2.38	0.88298	D	-5.93	0.89029	D	0.471	0.50688	-0.5064	0.68417	T	0.457	0.78883	T	9	0.26712307	0.44222	T	0.081818	0.73766	D	0.285	0.60338	0.363	0.36874	0.415564226483	0.41173	0.8747902017327102	0.87445	0.56917265543	0.53102	.	.	.	0.437912	0.78376	T	-0.0119383	0.49994	T	-0.254925	0.49329	T	0.382179710809528	0.28266	T	0.19798	0.02209	T	0.17579228	0.38457	0.26548478	0.52382	0.17579228	0.38457	0.26548478	0.52381	-4.902	0.35757	T	.	.	0.805	0.77536	P	.	.	2.616842	0.34002	19.50	0.56137257275615593	0.05488	0.19460	0.20669	N	AEFDCI	0.210090	0.33601	N	-0.932174268958967	0.10095	0.4808459	-0.955439588999189	0.10797	0.546142	2.02033420824524E-4	0.05948	0.554377	0.28877	0	0.578056	0.33634	0	0.657636	0.52715	0	0.567892	0.33627	0	.	.	3.88	2.97	0.33479	1.471000	0.34973	6.436000	0.55643	-0.273000	0.06669	0.007000	0.17678	1.000000	0.68203	0.001000	0.02609	0.109:0.0:0.891:0.0	9.233	0.36609	664	0.61548	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	710.33	47	chr1	22005784	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.396;SOR=0.698	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr1	22508725	22508725	C	T	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon6:c.C1357T:p.R453W,ZBTB40:NM_014870:exon8:c.C1693T:p.R565W,ZBTB40:NM_001083621:exon9:c.C1693T:p.R565W	.	.	.	.	.	.	.	.	.	.	.	3624361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0584677918145	.	0.000399361	4.178e-05	0	0	0	0	4.562e-05	0	0.0001	5.82e-05	9	154602	rs200048945	4.38e-05	4.378e-05	4.766e-05	3.99e-05	0.0002	3.51e-05	3.194e-05	8.889e-05	7.056e-05	0	2.236e-05	0	0	0	0	4.227e-05	4.973e-05	0.0002	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0004	1.261e-05	7.98e-06	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.99	0.66517	D	0.53	0.54900	P	0.250733	0.15515	N	0.576652	0.991697	0.41451	D	2.015	0.55033	M	-1.75	0.83495	D	-0.79	0.26639	N	0.258	0.31365	0.092	0.84021	D	0.529	0.82482	D	10	0.24239692	0.41435	T	0.058468	0.67327	D	0.407	0.71946	0.629	0.76478	0.926355600753	0.92560	0.3516839482591388	0.35082	0.119409164691	0.13444	0.214809462428	0.01032	T	0.026649	0.19675	T	-0.116124	0.33758	T	-0.144901	0.59692	T	0.296554073197643	0.24861	T	0.915108	0.69728	D	0.09470821	0.22273	0.1064638	0.25612	0.09470821	0.22272	0.1064638	0.25611	-6.761	0.52268	T	.	.	0.095	0.26576	B	.;.;.;.	.;.;.;.	4.171240	0.62719	24.5	0.99547108339887491	0.70898	0.86280	0.45529	D	AEFDBI	0.401320	0.47585	N	0.288896877171661	0.55585	3.722555	0.316921840533386	0.56533	3.816827	0.999813839749096	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	1.168000	0.31468	4.008000	0.41136	0.549000	0.26987	0.831000	0.30147	0.999000	0.35428	0.533000	0.29776	0.0:1.0:0.0:0.0	18.977	0.92720	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	164.33	21	chr1	22508725	.	C	T	164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.03;DP=519;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.006;SOR=2.303	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	18	0	1	0
chr1	22509178	22509178	T	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon7:c.T1442C:p.I481T,ZBTB40:NM_014870:exon9:c.T1778C:p.I593T,ZBTB40:NM_001083621:exon10:c.T1778C:p.I593T	.	0	1520	1	1	0	3	0.000985869	.	.	.	3624358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.166	0.0301503009483	.	.	6.589e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs202173272	3.899e-05	3.967e-05	2.859e-05	4.95e-05	0.0029	3.047e-05	2.783e-05	0.0019	0.0015	0	0	0	0	0	0.0029	1.888e-05	9.935e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.04972	T	0.53	0.10103	T	0.0	0.02946	B	0.0	0.01387	B	0.000881	0.00704	N	4.597950	1	0.08975	N	-0.55	0.02420	N	-1.53	0.81559	D	0.8	0.01921	N	0.022	0.02759	-0.8678	0.50694	T	0.158	0.49094	T	10	0.037995398	0.02189	T	0.03015	0.52519	D	0.166	0.42578	0.398	0.42590	0.298403945805	0.29456	0.22663466516955325	0.22578	0.145711389982	0.16455	0.250009536743	0.03769	T	0.012084	0.10683	T	-0.344065	0.05111	T	-0.601551	0.12681	T	0.00982211081385681	0.00129	T	0.435856	0.11948	T	0.0115309805	0.00018	0.024997286	0.00530	0.0115309805	0.00018	0.024997286	0.00530	-2.082	0.03507	T	.	.	0.049	0.00478	B	.;.;.;.	.;.;.;.	-1.470550	0.00313	0.005	0.31080034524993605	0.01733	0.00865	0.03436	N	AEFDBI	0.017057	0.00423	N	-2.26412754659505	0.00055	0.002353492	-2.33439451712018	0.00056	0.002439534	0.999989136490341	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.95	-11.9	0.00018	-2.694000	0.00900	-5.841000	0.01578	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0859:0.197:0.1659:0.5513	5.204	0.14606	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1127.33	33	chr1	22509178	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=744;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.323;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1208:.	18	0	1	0
chr1	22593677	22593677	G	C	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon7:c.G1594C:p.G532R	.	367	1151	2	0	2	4	0.000868056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	.	0.00219649	0.0017	0.0002	0.0002	0	0	0	0	0.0102	0.0007309	113	154602	rs560791662	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.571e-05	0	0.0005	5.441e-06	0.0003	0.0060	0.0002	0.0002	7.708e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0054	0.345	0.12511	T	0.299	0.20422	T	0.997	0.70673	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.6	0.40776	L	0.64	0.52867	T	-1.12	0.28906	N	0.581	0.60241	-0.8985	0.48145	T	0.184	0.53331	T	10	0.010440618	0.00232	T	.	.	.	0.143	0.38195	0.238	0.16912	0.667442060384	0.66464	0.5189263176118889	0.51815	0.859423846609	0.68894	0.741804242134	0.73238	T	0.107205	0.41921	T	-0.262443	0.12615	T	-0.146451	0.59557	T	0.149225145578384	0.17041	T	0.887511	0.61533	D	0.23022957	0.45774	0.29166397	0.55191	0.23022957	0.45775	0.29166397	0.55190	-5.45	0.41397	T	.	.	0.189	0.40730	B	.	.	5.282428	0.88695	29.7	0.99847015919422166	0.92663	0.98575	0.84269	D	AEFDBI	0.791381	0.71999	D	0.499246071565566	0.67048	5.029747	0.460742085471275	0.65411	4.820231	0.991986082272509	0.32678	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	3.85	3.85	0.43556	5.006000	0.63731	11.691000	0.94356	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1066:0.0:0.8934:0.0	8.800	0.34062	883	0.28872	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	810.33	40	chr1	22593677	.	G	C	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.132;DP=767;ExcessHet=0;FS=6.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.57;SOR=1.528	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	22597359	22597359	C	T	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon10:c.C1813T:p.P605S	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0522748836214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.064	0.44905	T	0.997	0.70673	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.455	0.71248	M	-0.9	0.74896	T	-2.23	0.50012	N	0.63	0.64393	0.061	0.83455	D	0.491	0.80688	T	10	0.6463162	0.69347	D	0.052275	0.65005	D	0.387	0.70358	0.327	0.31034	0.801595811332	0.79974	0.4495379721540319	0.44871	0.810157115284	0.66698	0.512233734131	0.40534	T	0.129901	0.45846	T	0.0346306	0.56339	T	-0.188032	0.55774	T	0.964676201343536	0.67030	D	0.751525	0.37371	T	0.45069155	0.64084	0.45290092	0.68178	0.45069155	0.64085	0.45290092	0.68178	-4.782	0.34380	T	.	.	0.083	0.09045	B	.	.	4.357734	0.66984	25.0	0.99900138884275202	0.97199	0.98298	0.81385	D	AEFBI	0.614927	0.60206	D	0.505443720522396	0.67412	5.078088	0.424152977128027	0.63073	4.534066	0.0934165184268223	0.16182	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	4.608000	0.60847	2.710000	0.34229	0.549000	0.26987	1.000000	0.71638	0.074000	0.22270	0.954000	0.50415	0.0:0.8269:0.1731:0.0	12.141	0.53300	889	0.27310	Ephrin receptor, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	33	chr1	22597359	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=793;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.594;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr1	22644031	22644031	T	C	exonic	C1QC	.	nonsynonymous SNV	C1QC:NM_001114101:exon2:c.T8C:p.V3A,C1QC:NM_001347619:exon2:c.T8C:p.V3A,C1QC:NM_172369:exon2:c.T8C:p.V3A	C1q deficiency, Autosomal recessive	3	1511	8	0	0	8	0.00264026	.	.	.	1153517	C1Q_deficiency|not_provided	MONDO:MONDO:0013343,MedGen:C3150902,OMIM:PS613652|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.7e-05	0.00219649	0.0018	0.0002	0.0003	0	0	0.0002	0	0.0099	0.0008603	133	154602	rs367838299	0.0005	0.0005	0.0003	0.0007	0.0076	0.0005	0.0005	0.0071	0.0069	6e-05	9.765e-05	0	0	1.948e-05	0.0040	3.9e-05	0.0005	0.0076	0.0003	0.0003	0.0001	0.0004	0.0054	0.0002	0.0002	0.0038	0.0033	2.414e-05	0	0	0	0	0	0.0102	8.838e-05	0.0014	0.0054	0.078	0.33923	T	0.126	0.35205	T	0.015	0.17086	B	0.005	0.11217	B	0.043748	0.23708	N	0.382295	1	0.08975	N	1.39	0.34934	L	-2.6	0.89888	D	-0.11	0.08653	N	0.1	0.08227	-0.7330	0.58812	T	0.335	0.70231	T	10	0.0068438947	0.00156	T	.	.	.	0.133	0.36157	.	.	0.735126212529	0.73275	0.4847854581621789	0.48398	0.377929830366	0.39216	0.277425676584	0.07136	T	0.077818	0.35745	T	-0.395926	0.02462	T	-0.335947	0.40802	T	0.0173005646323902	0.00470	T	0.174883	0.01686	T	0.033251967	0.03508	0.028905407	0.01172	0.027269388	0.01894	0.026691655	0.00773	-2.432	0.05333	T	.	.	0.063	0.01555	B	.;.;.	.;.;.	-0.009353	0.04217	1.033	0.77771944876763832	0.12015	0.06708	0.12729	N	AEFDBI	0.637315	0.61614	D	-1.07118584662743	0.07178	0.3326841	-1.06561953850982	0.08384	0.4120255	0.00217703085293898	0.09210	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	0.554	0.16430	-0.080000	0.11303	-0.541000	0.08582	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1343:0.1539:0.1398:0.5721	1.795	0.02874	893	0.26510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002556	0.000000	0.001366	0.008982	0.000000	0.000000	0.000000	0.000000	0.02632	573.33	34	chr1	22644031	.	T	C	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=678;ExcessHet=0;FS=1.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.179;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	22953389	22953389	T	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.A1394T:p.Y465F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195729155842	.	0.00219649	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs570848600	0.0002	0.0002	0.0002	0.0002	0.0086	0.0002	0.0002	0.0076	0.0072	0.0086	0.0006	0	0	0	0	4.359e-06	0.0007	5.135e-05	0.0025	0.0025	0.0027	0.0024	0.0089	0.0023	0.0022	0.0081	0.0079	0.0089	0	0.0005	0	0	0	0	0	0.0019	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.125	0.04555	N	.	.	.	.	.	.	0.135	0.13198	.	.	.	.	.	.	.	0.0058882236	0.00132	T	0.195729	0.86439	D	.	.	.	.	0.213573922156	0.20996	0.6309136918868198	0.63025	.	.	.	.	.	0.002896	0.02288	T	-0.56043	0.00252	T	-0.569833	0.15464	T	.	.	.	0.568643	0.20211	T	0.054551706	0.10480	0.12212492	0.29462	0.054551706	0.10480	0.12212492	0.29461	-3.403	0.15097	T	.	.	0.092	0.13503	B	.;.	.;.	1.266797	0.16649	12.68	0.90882158446906303	0.20131	0.42035	0.26789	N	AEFDBHCI	0.048849	0.08379	N	.	.	.	.	.	.	0.95200712055789	0.27990	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.49	-3.95	0.03844	0.954000	0.28772	0.063000	0.14158	0.557000	0.28285	1.000000	0.71638	0.955000	0.29136	0.848000	0.40082	0.5121:0.0:0.1203:0.3677	5.871	0.18053	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	29	chr1	22953389	.	T	A	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=686;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.078;SOR=0.957	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1096	18	0	1	0
chr1	22955369	22955369	G	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon7:c.C710T:p.A237V	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.050761660546	.	.	0.0003	0	0	0	0	0	0	0.0007	3.88e-05	6	154602	rs562795697	8.01e-05	7.798e-05	5.645e-05	0.0001	0.0007	6.786e-05	6.346e-05	0.0004	0.0004	3.165e-05	2.801e-05	0	0	0	0.0007	5.468e-05	5.173e-05	0.0006	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.985	0.53793	M	0.99	0.41750	T	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	0.32952905	0.50204	T	0.050762	0.64379	D	.	.	.	.	0.316788114976	0.31282	0.6964412038935782	0.69585	.	.	.	.	.	0.002851	0.02248	T	-0.184646	0.23047	T	-0.142213	0.59925	T	0.713110506534576	0.41353	D	0.920908	0.71352	D	0.18711556	0.40151	0.56453305	0.74797	0.18711556	0.40150	0.56453305	0.74798	-7.244	0.55796	T	.	.	0.312	0.53936	B	.;.	.;.	3.981646	0.58534	24.0	0.98683857765128635	0.44652	0.98301	0.81414	D	AEFDGBI	0.863545	0.78211	D	0.43383823508697	0.63292	4.560226	0.518297928741623	0.69223	5.329648	0.999998667886694	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	7.638000	0.82478	9.595000	0.81054	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.667	0.68522	787	0.46738	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr1	22955369	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.726;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.777;SOR=0.737	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1401	18	0	1	0
chr1	23091677	23091677	G	A	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.C2585T:p.A862V,LUZP1:NM_033631:exon4:c.C2585T:p.A862V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.009293190398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488703891	6.157e-06	6.156e-06	0	1.238e-05	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	0	1.159e-05	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.004	0.65419	D	0.158	0.31629	T	0.037	0.20876	B	0.014	0.16862	B	0.006160	0.32237	N	0.142496	0.999341	0.21331	N	0	0.06538	N	2.76	0.13916	T	-0.93	0.26422	N	0.166	0.17553	-1.0108	0.26666	T	0.020	0.08360	T	10	0.07973838	0.12862	T	0.009293	0.24389	T	0.047	0.12962	0.162	0.06618	0.238705975628	0.23479	0.16749384221308455	0.16669	0.214056953562	0.23940	0.323909163475	0.14013	T	0.085603	0.37538	T	-0.317388	0.07114	T	-0.596828	0.13080	T	0.352422416210175	0.27114	T	0.738826	0.35731	T	0.084524	0.19568	0.087980956	0.20486	0.084524	0.19568	0.087980956	0.20485	-4.306	0.28260	T	.	.	0.097	0.18037	B	.;.;.	.;.;.	2.484659	0.32044	18.92	0.99337148660395114	0.60012	0.84486	0.43568	D	AEFBI	0.108234	0.21537	N	-0.537644528084329	0.20873	1.10359	-0.323713187353771	0.27335	1.516059	0.99896239140688	0.38084	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.28	4.36	0.51643	0.716000	0.25508	2.365000	0.32395	-0.326000	0.05813	0.842000	0.30316	0.989000	0.31174	0.819000	0.38590	0.0:0.833:0.167:0.0	13.245	0.59445	832	0.38914	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1845.33	105	chr1	23091677	.	G	A	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=1710;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.3;SOR=0.614	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr1	23441433	23441433	T	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon8:c.A761G:p.Q254R,ASAP3:NM_017707:exon9:c.A788G:p.Q263R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.00586303517152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.21634	T	0.117	0.36365	T	0.001	0.11197	B	0.002	0.12133	B	0.000357	0.45440	D	0.146397	0.998803	0.45475	D	1.21	0.30464	L	3.63	0.04353	T	-2.17	0.49018	N	0.127	0.14054	-0.9999	0.29945	T	0.015	0.06234	T	10	0.14072686	0.26747	T	0.005863	0.15251	T	0.181	0.45247	0.262	0.20631	0.146414634003	0.14194	0.6513730285972331	0.65073	0.243182083303	0.26821	0.440819859505	0.30689	T	0.043199	0.26427	T	-0.0490978	0.44585	T	-0.308302	0.43840	T	0.766618669033051	0.44238	D	.	.	.	0.071693525	0.15893	0.14197372	0.33792	0.071693525	0.15892	0.14197372	0.33791	-6.481	0.50140	T	.	.	0.073	0.04847	B	.;.	.;.	2.754019	0.36104	20.2	0.98912604283524552	0.48399	0.97064	0.72480	D	AEFBI	0.648439	0.62326	D	-0.0677733229754846	0.38811	2.279007	0.0919159330422032	0.44140	2.70165	0.999283059365029	0.39007	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.58	4.58	0.56077	4.424000	0.59617	3.948000	0.40653	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.0:1.0	11.782	0.51292	355	0.85216	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	572.33	45	chr1	23441433	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.361;DP=779;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.716;SOR=0.963	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr1	23516471	23516471	G	C	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon6:c.C909G:p.C303W	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.58119639477	.	.	8.796e-06	0	0	0	0	0	0	6.545e-05	6.5e-06	1	154602	rs769743094	7.546e-06	7.525e-06	4.095e-06	1.103e-05	0.0001	4.05e-06	2.96e-06	6.298e-05	4.795e-05	0	0	0	0	0	0	0	1.66e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.35	0.91085	M	-2.13	0.86349	D	-9.92	0.98753	D	0.916	0.91852	0.472	0.90143	D	0.765	0.92009	D	10	0.8874333	0.88075	D	0.581196	0.96248	D	0.784	0.92827	0.531	0.63855	0.908093480575	0.90717	0.7326146404880036	0.73206	1.24708654241	0.81708	0.783187329769	0.79409	T	0.472398	0.80469	T	0.237009	0.77379	D	0.367099	0.90966	D	0.996803164482117	0.90116	D	.	.	.	0.97607225	0.98796	0.95608133	0.98755	0.97607225	0.98796	0.95608133	0.98756	-15.499	0.96911	D	.	.	0.985	0.92281	P	.	.	3.989687	0.58709	24.0	0.99411045963183986	0.63263	0.91002	0.52669	D	AEFBCI	0.822882	0.74311	D	0.429424111868812	0.63048	4.531096	0.303241882980656	0.55730	3.73584	0.868884452246901	0.25374	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.9	1.99	0.25423	2.643000	0.46271	1.896000	0.29550	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.3306:0.0:0.6694:0.0	7.880	0.28777	364	0.84707	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	33	chr1	23516471	.	G	C	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.402;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.512;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1371	18	0	1	0
chr1	23521045	23521045	G	A	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon4:c.C605T:p.T202I	.	415	1077	30	0	0	30	0.0137363	.	.	.	718803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.0904742021701	0.0035	0.000998403	0.0030	0.0014	0.0049	0	0.0002	0.0041	0.0034	0.0008	0.002943	455	154602	rs116694174	0.0042	0.0042	0.0043	0.0042	0.0239	0.0041	0.0041	0.0206	0.0194	0.0016	0.0045	0.0013	0	0.0003	0.0239	0.0048	0.0048	0.0014	0.0031	0.0031	0.0035	0.0027	0.0058	0.0028	0.0028	0.0048	0.0045	0.0009	0	0.0058	0.0017	0	9.416e-05	0.0170	0.0045	0.0071	0.0019	0.114	0.28646	T	0.175	0.29945	T	0.974	0.57829	D	0.601	0.50808	P	0.128026	0.18746	N	0.590344	0.592948	0.31004	N	2.35	0.67516	M	-2.39	0.88377	D	-1.23	0.31170	N	0.055	0.02658	0.367	0.88598	D	0.660	0.88190	D	10	0.0036780536	0.00067	T	0.090474	0.75526	D	0.262	0.57482	.	.	0.619622683959	0.61654	0.18525270660731205	0.18443	0.397296365121	0.40821	0.36440384388	0.20025	T	0.145183	0.48218	T	-0.353739	0.04496	T	-0.278564	0.46951	T	0.0231836068114854	0.01045	T	.	.	.	0.038707763	0.05208	0.056382116	0.10063	0.038707763	0.05208	0.056382116	0.10063	-6.728	0.52021	T	.	.	0.107	0.20196	B	.	.	2.635034	0.34271	19.58	0.9948509391885475	0.67124	0.43320	0.27072	N	AEFGBCI	0.112629	0.22255	N	-0.244276433045562	0.31333	1.755817	-0.334354100849213	0.26997	1.495025	0.999997327058369	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.99	4.07	0.46726	1.320000	0.33272	1.821000	0.29040	-0.153000	0.12021	0.002000	0.15269	0.012000	0.20211	0.187000	0.21511	0.0:0.2617:0.7383:0.0	15.560	0.75974	366	0.84579	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.050505	0.017663	0.043860	0.000000	0.000000	0.009146	0.007576	0.05263	1778.81	39	chr1	23521045	.	G	A	1778.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.21;SOR=1.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr1	23810738	23810738	C	G	exonic	HMGCL	.	nonsynonymous SNV	HMGCL:NM_000191:exon6:c.G559C:p.E187Q	HMG-CoA lyase deficiency, Autosomal recessive	0	1520	1	1	0	3	0.000985869	0.9244	0.63	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.142941288825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.20532	T	0.192	0.28300	T	0.004	0.12183	B	0.031	0.21939	B	0.000009	0.62929	D	0.109645	1	0.81001	D	1.41	0.35535	L	-4.92	0.98371	D	-0.67	0.19297	N	0.386	0.42737	0.871	0.95289	D	0.908	0.96949	D	10	0.3840082	0.54405	T	0.142941	0.82529	D	0.518	0.79461	0.555	0.67271	0.932400548661	0.93170	0.7464676676905063	0.74592	0.109243230872	0.12323	0.4586135149	0.33120	T	0.790132	0.94539	D	0.194947	0.73420	D	0.0422511	0.73074	D	0.727002203464508	0.42055	D	0.935306	0.75759	D	0.4195958	0.62065	0.33352268	0.59188	0.4195958	0.62065	0.33352268	0.59187	-5.812	0.44679	T	0.1535222135857626	0.18268	0.109	0.20857	B	.	.	3.820849	0.55171	23.6	0.99327924520772437	0.59661	0.83055	0.42206	D	AEFGBCI	0.793669	0.72160	D	0.0442622293223329	0.43878	2.672317	0.19905742362822	0.49796	3.178571	0.999999999843677	0.74766	0.712529	0.81865	0	0.26897	0.04874	2	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.35	5.35	0.76297	2.274000	0.43049	5.857000	0.50394	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.657	0.91416	520	0.74355	Pyruvate carboxyltransferase|Pyruvate carboxyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1168.33	33	chr1	23810738	.	C	G	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.544;DP=712;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.64;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	18	0	1	0
chr1	24061066	24061066	C	T	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon35:c.G3988A:p.E1330K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.041852172301	.	.	3.312e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs777037452	1.847e-05	1.847e-05	8.167e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	1.799e-06	0	0.0003	3.289e-05	3.285e-05	1.286e-05	5.388e-05	0.0006	1.262e-05	7.99e-06	0.0002	9.018e-05	4.831e-05	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.019	0.65728	D	0.024	0.66517	B	0.02	0.44885	B	0.000496	0.43931	D	0.191791	0.797116	0.34462	D	2.765	0.80766	M	0.12	0.61089	T	-3.8	0.71762	D	0.534	0.56231	-0.6887	0.60969	T	0.212	0.57214	T	10	0.21533403	0.38083	T	0.041852	0.60153	D	0.214	0.50650	0.538	0.64874	0.408036853922	0.40422	0.7804393224397657	0.77994	0.321224404552	0.34324	0.672349333763	0.63173	T	0.093147	0.39151	T	-0.210445	0.19316	T	-0.229547	0.51815	T	0.810158610343933	0.47058	D	0.940006	0.77317	D	0.56946504	0.71031	0.5236958	0.72482	0.56946504	0.71032	0.5236958	0.72482	-9.841	0.72954	D	.	.	0.618	0.69616	P	.;.	.;.	4.268505	0.64932	24.8	0.99889668694637501	0.96436	0.96784	0.70921	D	AEFBI	0.855762	0.77291	D	0.262889122306411	0.54280	3.593904	0.317370780168411	0.56559	3.819508	0.91217881735168	0.26388	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	4.497000	0.60088	7.508000	0.59580	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	12.842	0.57194	521	0.74284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	33	chr1	24061066	.	C	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.474;DP=725;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=1.24;SOR=0.381	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	18	0	1	0
chr1	24086758	24086758	C	T	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon15:c.G1684A:p.V562I	.	412	1108	2	0	0	2	0.000901713	.	.	.	804983	Flexion_contracture	Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.0175336235919	0.0002	0.000399361	0.0001	0.0008	0.0004	0.0001	0	1.499e-05	0	0.0001	0.0001294	20	154602	rs183173497	4.72e-05	4.72e-05	4.356e-05	5.088e-05	0.0008	3.794e-05	3.476e-05	0.0005	0.0005	0.0008	0.0001	0	5.038e-05	1.872e-05	0.0005	1.439e-05	6.623e-05	0.0001	0.0002	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	2.94e-05	0	0	0.089	0.32141	T	0.172	0.30241	T	0.275	0.31898	B	0.046	0.24676	B	0.001893	0.37740	N	0.264606	0.990563	0.24154	N	1.58	0.39772	L	0.28	0.59037	T	0.13	0.05503	N	0.071	0.04426	-0.7330	0.58812	T	0.225	0.58919	T	10	0.02264753	0.00571	T	0.017534	0.39265	T	0.087	0.25287	.	.	0.333906830038	0.33007	0.18123013235644186	0.18042	0.0994019885817	0.11232	0.250005125999	0.03768	T	0.003931	0.03343	T	-0.485869	0.00685	T	-0.521134	0.20180	T	0.0717550869581953	0.08895	T	0.59644	0.22167	T	0.07702463	0.17455	0.09848128	0.23479	0.07702463	0.17455	0.09848128	0.23478	-5.77	0.44312	T	.	.	0.144	0.31683	B	.	.	2.044832	0.25992	16.96	0.98819600674877017	0.46753	0.68967	0.34004	D	AEFDGBI	0.268804	0.38522	N	-0.090879200066524	0.37793	2.203831	-0.0471029177619404	0.37616	2.204879	0.974916164924934	0.29586	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	3.78	0.42629	1.721000	0.37654	6.592000	0.56029	-0.789000	0.03264	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.2829:0.7171:0.0	14.540	0.67579	405	0.82444	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2326.33	42	chr1	24086758	.	C	T	2326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=931;ExcessHet=0;FS=3.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.654;SOR=0.838	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr1	24161574	24161574	C	G	exonic	IFNLR1	.	nonsynonymous SNV	IFNLR1:NM_170743:exon4:c.G478C:p.V160L,IFNLR1:NM_173064:exon4:c.G478C:p.V160L,IFNLR1:NM_173065:exon4:c.G478C:p.V160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.011022475544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.53172	T	0.058	0.46182	T	0.007	0.43231	B	0.004	0.42815	B	0.348267	0.13856	N	0.692717	0.982611	0.30008	N	2.3	0.65703	M	0.76	0.49919	T	-2.09	0.53420	N	0.373	0.46274	-0.9146	0.46272	T	0.133	0.44484	T	10	0.19808328	0.35765	T	0.011022	0.28208	T	0.165	0.42395	0.339	0.32979	0.506494895843	0.50287	0.38270766520290667	0.38185	0.230694070643	0.25618	0.489907950163	0.37425	T	0.238976	0.60699	T	-0.0410883	0.45786	T	-0.296797	0.45062	T	0.874874830245972	0.52474	D	0.844016	0.52437	T	0.3952896	0.60405	0.15204021	0.35789	0.3952896	0.60405	0.15204021	0.35789	-5.679	0.43853	T	.	.	0.503	0.65203	A	.;.;.;.;.	.;.;.;.;.	3.270137	0.44761	22.0	0.99139389785679011	0.53491	0.77385	0.38042	D	AEFDBI	0.304561	0.41222	N	-0.11750580907188	0.36629	2.119931	-0.00861694942389329	0.39323	2.32987	0.964851614001406	0.28789	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.586402	0.36253	0	.	.	4.93	3.99	0.45527	2.095000	0.41354	3.260000	0.37085	0.549000	0.26987	0.998000	0.41325	0.998000	0.33993	0.938000	0.47775	0.1907:0.8093:0.0:0.0	10.714	0.45197	518	0.74548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.53	34	chr1	24161574	.	C	G	42.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.937;DP=1216;ExcessHet=0;FS=296.233;InbreedingCoeff=-0.0368;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=0.65;SOR=8.254	GT:AD:DP:GQ:PL	0/0:57,0:57:3:0,3,1217	18	0	1	0
chr1	24161603	24161603	C	G	exonic	IFNLR1	.	nonsynonymous SNV	IFNLR1:NM_170743:exon4:c.G449C:p.C150S,IFNLR1:NM_173064:exon4:c.G449C:p.C150S,IFNLR1:NM_173065:exon4:c.G449C:p.C150S	.	427	1094	1	0	0	1	0.00045683	.	.	.	3220058	not_specified|IFNLR1-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0188474968575	0.0005	0.000399361	0.0005	0.0028	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs141989044	7.489e-05	7.524e-05	7.179e-05	7.807e-05	0.0010	6.305e-05	5.833e-05	0.0008	0.0007	0.0010	0.0006	0.0002	0	0	0	2.408e-05	0.0003	1.26e-05	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0009	0	0	0	0	0	0.0005	0	0.073	0.91255	T	0.026	0.56192	D	0.945	0.53279	P	0.215	0.41361	B	0.935774	0.08388	N	0.974818	0.918097	0.29302	N	2.745	0.80253	M	1.01	0.41058	T	-7.34	0.98264	D	0.616	0.72120	-0.9257	0.44758	T	0.129	0.43686	T	10	0.042650193	0.03035	T	0.018847	0.41045	T	0.238	0.54217	0.481	0.56142	0.364342057095	0.36045	0.5214744685158761	0.52070	0.524515693656	0.50131	0.507065057755	0.39812	T	0.647614	0.89268	D	-0.258859	0.13033	T	-0.150158	0.59231	T	0.120663297246269	0.14495	T	0.756624	0.37993	T	0.5491686	0.69909	0.5456301	0.73735	0.5491686	0.69911	0.5456301	0.73736	-4.767	0.34204	T	.	.	0.944	0.86323	P	.;.;.;.;.	.;.;.;.;.	4.296767	0.65572	24.8	0.97021448915646225	0.32026	0.62421	0.31776	D	AEFDBI	0.428862	0.49222	N	0.0640862263693103	0.44793	2.746932	0.0526624151767788	0.42202	2.54843	0.999836860543147	0.43792	0.615465	0.37627	0	0.633656	0.55848	0	0.606735	0.37207	0	0.586402	0.36253	0	.	.	4.93	4.93	0.64394	3.531000	0.53302	7.631000	0.62734	0.545000	0.25583	0.730000	0.28923	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	14.056	0.64295	518	0.74548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr1	24161603	.	C	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.892;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.785;SOR=0.732	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	25301582	25301582	G	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001127691:exon5:c.G697C:p.E233Q,RHD:NM_001282867:exon5:c.G199C:p.E67Q,RHD:NM_001282868:exon5:c.G697C:p.E233Q,RHD:NM_001282869:exon5:c.G697C:p.E233Q,RHD:NM_001282870:exon5:c.G697C:p.E233Q,RHD:NM_001282871:exon5:c.G697C:p.E233Q,RHD:NM_001282872:exon5:c.G697C:p.E233Q,RHD:NM_016124:exon5:c.G697C:p.E233Q	.	520	1000	2	0	0	2	0.000999001	.	.	.	204995	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.049	.	0.0044	0.071885	0.0017	0.0165	0.0010	0.0001	0.0003	8.834e-05	0	0.0003	0.0046442	718	154602	rs1053359	0.0005	0.0006	0.0006	0.0004	0.0135	0.0005	0.0005	0.0124	0.0120	0.0135	0.0016	0	0.0003	0	0.0010	4.333e-05	0.0015	7.45e-05	0.0043	0.0052	0.0045	0.0041	0.0137	0.0040	0.0039	0.0127	0.0123	0.0137	0	0.0023	0	0.0008	0	0	7.145e-05	0.0016	0.0005	0.205	0.20154	T	0.195	0.28032	T	0.062	0.77913	B	0.281	0.88582	B	0.660235	0.10434	N	0.859558	1	0.08975	N	1.5	0.37844	L	1.95	0.22474	T	-1.68	0.40082	N	0.263	0.34120	-1.0605	0.11632	T	0.004	0.01226	T	10	0.004635632	0.00097	T	.	.	.	0.049	0.13647	.	.	0.107399877778	0.10242	0.28830555766175875	0.28743	0.198620745402	0.22241	0.420844733715	0.27952	T	0.003234	0.02636	T	-0.571155	0.00218	T	-0.580877	0.14466	T	0.00831160482685251	0.00100	T	0.724828	0.33863	T	0.13702348	0.31743	0.08801503	0.20495	0.12909038	0.30160	0.092419095	0.21779	-5.006	0.39685	T	0.4028133306081099	0.49435	0.09	0.26762	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.629407	0.20803	14.92	0.88729452986511348	0.18208	0.15426	0.18906	N	AEFGBI	0.222883	0.34731	N	-0.584269614534565	0.19422	1.016364	-0.651315912296865	0.18184	0.9702479	0.00733175581229321	0.11441	0.554377	0.28877	0	0.588066	0.40923	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	2.9	2.9	0.32809	0.858000	0.27500	2.404000	0.32608	0.325000	0.19437	0.017000	0.19353	0.922000	0.28345	0.084000	0.17470	0.0:0.0:1.0:0.0	9.111	0.35889	846	0.36215	Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	chr1:25628073	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.003735	0.010753	0.004237	0.003289	0.000000	0.000000	0.000000	0.000000	0.02941	252.13	36	chr1	25301582	.	G	C	252.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.53;DP=818;ExcessHet=0;FS=8.969;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=54.49;MQRankSum=-5.507;QD=1;ReadPosRankSum=-1.321;SOR=1.453	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1315	16	0	1	2
chr1	25306681	25306681	T	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon7:c.T527C:p.I176T,RHD:NM_001282869:exon7:c.T1025C:p.I342T,RHD:NM_001282870:exon7:c.T1025C:p.I342T,RHD:NM_001282871:exon7:c.T1025C:p.I342T,RHD:NM_001282872:exon7:c.T1025C:p.I342T,RHD:NM_016124:exon7:c.T1025C:p.I342T	.	511	1009	2	0	0	2	0.000990099	.	.	.	198600	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.005	0.001248172493	0.0020	0.00119808	0.0006	0.0060	0.0004	0	0	1.767e-05	0	0	0.0001153	3	26028	rs138235491	0.0003	0.0003	0.0004	0.0003	0.0091	0.0003	0.0003	0.0082	0.0079	0.0091	0.0009	0	0	0	0.0010	2.166e-05	0.0010	0.0002	0.0022	0.0023	0.0022	0.0022	0.0071	0.0020	0.0019	0.0064	0.0061	0.0071	0	0.0010	0	0	0	0	1.798e-05	0.0006	0.0002	1.0	0.10945	T	0.501	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.232003	0.15900	N	0.673356	1	0.08975	N	-1.2	0.00838	N	1.97	0.22067	T	1.17	0.02297	N	0.158	0.17416	-0.9824	0.34445	T	0.003	0.00864	T	10	0.005736381	0.00128	T	0.001248	0.01683	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.19556217122171632	0.19473	0.108913365642	0.12281	0.288580775261	0.08716	T	0.002617	0.02004	T	-0.508	0.00515	T	-0.761978	0.03042	T	0.00142547449042624	0.00014	T	0.442056	0.14032	T	0.018914966	0.00415	0.048120636	0.07080	0.02382468	0.01155	0.049260736	0.07489	-2.555	0.19732	T	0.06363026936898165	0.01969	0.069	0.13409	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.595988	0.01583	0.106	0.40456982515304901	0.02856	0.00080	0.00545	N	AEFGBI	0.054965	0.10039	N	-1.78885232172401	0.00573	0.02467995	-1.79808799506327	0.00765	0.0341294	6.91524004528068E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.48	-2.18	0.06643	-1.308000	0.02839	-1.121000	0.06268	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4095:0.0:0.5905	6.445	0.21071	878	0.29785	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	rs138235491	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004777	0.000000	0.009859	0.000000	0.000000	0.000000	0.000000	0.000000	0.02941	2216.13	33	chr1	25306681	.	T	C	2216.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.141;DP=710;ExcessHet=0;FS=3.774;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=3.09;SOR=0.452	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1436	16	0	1	2
chr1	25328934	25328934	T	G	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282868:exon8:c.T1056G:p.H352Q,RHD:NM_001282869:exon8:c.T1110G:p.H370Q,RHD:NM_001282870:exon9:c.T1190G:p.I397S,RHD:NM_001282871:exon9:c.T1280G:p.I427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00212636599221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.91255	T	0.013	0.63109	D	.	.	.	.	.	.	0.023927	0.26353	N	0.429039	1	0.08975	N	.	.	.	2.04	0.24285	T	0.75	0.05125	N	0.368	0.40963	-1.0443	0.16030	T	0.033	0.14160	T	9	0.069571406	0.10001	T	0.002126	0.03935	T	0.036	0.09122	0.495	0.58363	0.0762999501168	0.06990	0.10508250873985588	0.10438	.	.	.	.	.	.	.	.	-0.269294	0.11836	T	-0.624598	0.10828	T	0.191269531846046	0.19919	T	0.39816	0.13039	T	.	.	.	.	.	.	.	.	-2.904	0.09183	T	.	.	0.144	0.53119	B	.;.	.;.	0.985451	0.13630	10.16	0.90096228875678142	0.19379	0.02935	0.07754	N	AEFDGBI	0.084469	0.17118	N	-0.779259509183674	0.13852	0.6854228	-0.955666971255548	0.10791	0.5458377	0.0206746067152855	0.13280	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.2	-0.493	0.11437	-0.317000	0.08101	-0.980000	0.06715	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.0:0.3632:0.0:0.6368	4.525	0.11380	894	0.26265	Ammonium transporter AmtB-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	2082.13	33	chr1	25328934	.	T	G	2082.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.031;DP=704;ExcessHet=0;FS=3.944;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=52.14;MQRankSum=0.411;QD=13.26;ReadPosRankSum=-2.139;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1423	16	0	1	2
chr1	25388999	25388999	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_138617:exon4:c.A601G:p.I201V,RHCE:NM_001330430:exon6:c.A916G:p.I306V,RHCE:NM_020485:exon6:c.A916G:p.I306V,RHCE:NM_138618:exon6:c.A916G:p.I306V	Rh-null disease, amorph type (3)	419	1100	3	0	0	3	0.00136178	.	.	.	707283	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00633095839507	0.0008	.	0.0005	0.0041	0.0008	0	0	0.0001	0	0.0001	0.0001921	5	26028	rs1132765	0.0003	0.0003	0.0003	0.0002	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0011	0	2.519e-05	1.872e-05	0.0005	8.813e-05	0.0007	0.0001	0.0018	0.0018	0.0017	0.0019	0.0056	0.0016	0.0016	0.0050	0.0048	0.0056	0	0.0020	0	0	0	0	0.0002	0.0005	0.0002	0.717	0.03961	T	1.0	0.04703	T	0.074	0.24142	B	0.047	0.24832	B	0.068270	0.21684	N	0.523749	0.998036	0.44438	D	.	.	.	2.05	0.20664	T	-0.21	0.10308	N	0.144	0.19593	-1.0345	0.19014	T	0.022	0.09467	T	10	0.005934	0.00133	T	0.006331	0.16639	T	0.046	0.12618	.	.	0.110392049598	0.10638	0.06811926200585638	0.06749	0.25259744787	0.27827	0.255571097136	0.04377	T	.	.	.	-0.582558	0.00186	T	-0.605575	0.12347	T	0.00542456866298858	0.00059	T	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.07697	B	.;.;.;.;.	.;.;.;.;.	0.500888	0.08699	5.472	0.65236316053382504	0.07716	0.07117	0.13143	N	AEFDGI	0.095052	0.19211	N	-0.822561852315411	0.12735	0.6226619	-0.690753749101257	0.17191	0.9129963	7.32118626142012E-5	0.04552	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.48	0.29194	-0.292000	0.08368	-0.169000	0.11245	0.602000	0.45918	0.009000	0.18154	0.001000	0.17328	0.972000	0.54974	0.0:0.1982:0.0:0.8018	7.030	0.24139	892	0.26670	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1681.33	37	chr1	25388999	.	T	C	1681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=822;ExcessHet=0;FS=1.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-2.858;QD=9.83;ReadPosRankSum=-0.114;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1443	18	0	1	0
chr1	25390838	25390838	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon5:c.A712G:p.M238V,RHCE:NM_020485:exon5:c.A712G:p.M238V,RHCE:NM_138618:exon5:c.A712G:p.M238V	Rh-null disease, amorph type (3)	425	1094	3	0	0	3	0.00136924	.	.	.	707284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0032	0.00419329	0.0013	0.0130	0.0003	0	0	8.99e-05	0.0011	0.0010	0.0012419	192	154602	rs144163296	0.0005	0.0005	0.0005	0.0004	0.0121	0.0004	0.0004	0.0112	0.0108	0.0121	0.0008	3.826e-05	7.557e-05	0	0.0007	6.475e-05	0.0012	0.0010	0.0032	0.0033	0.0033	0.0031	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0011	0	0	0	0	8.819e-05	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.345513	0.13897	N	0.698537	1	0.22000	N	.	.	.	2.05	0.20664	T	1.76	0.00621	N	0.081	0.05799	-0.9914	0.32244	T	0.004	0.01400	T	10	0.005721599	0.00127	T	.	.	.	0.057	0.16321	.	.	0.151262610727	0.14761	0.1613172027514637	0.16052	0.301826712616	0.32518	0.35189974308	0.18201	T	.	.	.	-0.675839	0.00051	T	-0.734178	0.04141	T	0.00425271534305615	0.00045	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-1.503463	0.00293	0.005	0.30420393131976675	0.01663	0.00233	0.01302	N	AEFDGI	0.075218	0.15099	N	-2.07399304070336	0.00146	0.006251161	-1.99267885322195	0.00317	0.01401101	8.6322821071111E-5	0.04703	0.549168	0.22868	0	0.610034	0.51514	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	4.08	-4.0	0.03787	-0.968000	0.03928	-2.682000	0.03472	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2612:0.214:0.0:0.5248	4.862	0.12947	885	0.28214	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1664.33	33	chr1	25390838	.	T	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.583;DP=870;ExcessHet=0;FS=6.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.61;MQRankSum=-12.96;QD=9.4;ReadPosRankSum=-1.146;SOR=1.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1212:.	18	0	1	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.02632	4622.33	33	chr1	25392026	.	C	G	4622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=949;ExcessHet=0;FS=7.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.44;MQRankSum=-4.224;QD=15.21;ReadPosRankSum=-0.931;SOR=0.423	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	25566960	25566960	G	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon9:c.G895A:p.G299S	Hypercholesterolemia, familial, autosomal recessive	1	1516	4	1	0	6	0.00197498	.	.	.	1824745	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00703812821521	.	.	5.961e-05	0	0	0	0	4.646e-05	0	0.0002	4.53e-05	7	154602	rs756172640	4.175e-05	4.173e-05	3.269e-05	5.09e-05	0.0002	3.312e-05	3.002e-05	0.0002	0.0001	0	0	0	0	0	0.0002	3.327e-05	3.312e-05	0.0002	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0008	0.683	0.04391	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.531277	0.11636	N	0.807036	1	0.08975	N	1.39	0.34934	L	0.62	0.53302	T	0.06	0.06253	N	0.07	0.04307	-1.0012	0.29574	T	0.079	0.31284	T	10	0.031261176	0.01259	T	0.007038	0.18649	T	0.028	0.06331	0.286	0.24440	0.359763055319	0.35592	0.11973908957432713	0.11900	0.198008946488	0.22175	0.248510450125	0.03613	T	0.179569	0.53061	T	-0.488592	0.00661	T	-0.643413	0.09422	T	0.0131098721176386	0.00230	T	0.668933	0.27772	T	0.01685972	0.00227	0.026326882	0.00716	0.01685972	0.00227	0.026326882	0.00716	-2.703	0.07329	T	.	.	0.065	0.02012	B	.	.	0.335555	0.07092	3.666	0.79830141748910932	0.12920	0.08518	0.14436	N	AEFDBHCI	0.074603	0.14957	N	-1.09352835940422	0.06761	0.3122002	-1.06470596063008	0.08403	0.41303	0.999994831324286	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.779548	0.98927	0	0.727631	0.95156	0	.	.	5.54	1.51	0.22094	0.357000	0.19935	0.154000	0.15327	-0.227000	0.07798	0.000000	0.06391	0.001000	0.17328	0.340000	0.25432	0.2882:0.268:0.4438:0.0	5.513	0.16182	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	702.33	33	chr1	25566960	.	G	A	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.025;DP=666;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.876;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr1	25782603	25782603	C	T	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001385184:exon6:c.C1165T:p.R389W,MAN1C1:NM_001385185:exon10:c.C982T:p.R328W,MAN1C1:NM_001289010:exon11:c.C1669T:p.R557W,MAN1C1:NM_001385183:exon11:c.C1741T:p.R581W,MAN1C1:NM_020379:exon11:c.C1669T:p.R557W,MAN1C1:NM_001385182:exon12:c.C1771T:p.R591W	.	.	.	.	.	.	.	.	.	.	.	2685900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.104510597986	.	.	3.297e-05	0	8.64e-05	0	0	2.999e-05	0	6.058e-05	2.59e-05	4	154602	rs760943548	1.095e-05	1.163e-05	9.531e-06	1.238e-05	4.472e-05	6.48e-06	5.25e-06	7.41e-06	3.88e-06	0	4.472e-05	0	0	0	0	9.894e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99992	0.51308	D	3.18	0.88827	M	-0.85	0.74371	T	-7.35	0.94988	D	0.888	0.88798	-0.1297	0.79409	T	0.410	0.75866	T	10	0.91603416	0.90964	D	0.104511	0.77912	D	0.797	0.93346	0.753	0.88319	0.934691645215	0.93402	0.9342509533618304	0.93405	1.45662375788	0.86267	0.606934309006	0.53884	T	0.566622	0.87759	D	0.294121	0.82492	D	0.281562	0.87207	D	0.996235549449921	0.88931	D	0.987901	0.97045	D	0.844833	0.86957	0.7042201	0.82566	0.844833	0.86958	0.7042201	0.82567	-10.466	0.76651	D	.	.	0.419	0.60640	A	.;.;.	.;.;.	5.225963	0.87713	29.3	0.9989464842633986	0.96819	0.81461	0.40860	D	AEFBI	0.878447	0.80372	D	0.289674672303854	0.55623	3.726428	0.276889151289302	0.54192	3.585043	0.999986982539552	0.51787	0.643511	0.44296	0	0.563428	0.19063	0	0.688494	0.62686	0	0.620846	0.47308	0	.	.	5.0	4.06	0.46572	1.843000	0.38900	3.166000	0.36590	0.599000	0.40250	0.930000	0.32276	0.997000	0.33255	0.734000	0.35233	0.4342:0.5657:0.0:0.0	12.510	0.55346	614	0.66605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2353.33	34	chr1	25782603	.	C	T	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.037;DP=868;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.206;SOR=0.517	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1449	18	0	1	0
chr1	25835733	25835733	G	T	exonic	AUNIP	.	nonsynonymous SNV	AUNIP:NM_001287490:exon3:c.C334A:p.H112N,AUNIP:NM_024037:exon3:c.C334A:p.H112N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407377043679	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758460528	4.104e-06	4.104e-06	2.722e-06	5.5e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.10623	T	0.234	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.606555	0.05677	N	1.250000	1	0.08975	N	0.345	0.11182	N	1.1	0.39050	T	1.26	0.00998	N	0.142	0.14196	-1.0239	0.22443	T	0.053	0.22539	T	10	0.05476144	0.05881	T	0.004074	0.09712	T	0.015	0.02232	0.151	0.05441	0.287603790349	0.28378	0.06393654439521239	0.06332	0.136314018821	0.15377	0.262248694897	0.05161	T	0.004827	0.04249	T	-0.50619	0.00528	T	-0.762229	0.03033	T	0.0218362847797546	0.00890	T	0.282272	0.04954	T	0.02263836	0.00941	0.025627105	0.00614	0.02263836	0.00941	0.025627105	0.00614	-2.816	0.08332	T	.	.	0.059	0.00730	B	.;.	.;.	-0.169298	0.03249	0.550	0.46087700755687699	0.03665	0.01663	0.05329	N	AEFDBI	0.050719	0.08891	N	-1.24596080449413	0.04353	0.1963016	-1.21494351107785	0.05670	0.2707773	0.970323026684241	0.29199	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.96	0.25203	-0.278000	0.08523	0.705000	0.20878	-0.318000	0.05900	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5981:0.1968:0.2052	4.522	0.11372	705	0.57330	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1718.33	35	chr1	25835733	.	G	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=829;ExcessHet=0;FS=2.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.363;SOR=0.921	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	18	0	1	0
chr1	26029618	26029620	CTT	-	exonic	EXTL1	.	nonframeshift deletion	EXTL1:NM_004455:exon3:c.892_894del:p.L299del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.204e-05	0	0	0	0	0	0	8.142e-05	1.94e-05	3	154602	rs754475052	1.716e-05	1.779e-05	1.229e-05	2.208e-05	0.0001	1.178e-05	9.95e-06	7.179e-05	5.522e-05	0	0	0	0	0	0	1.17e-05	1.663e-05	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2212.29	35	chr1	26029617	.	GCTT	G	2212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=738;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.9;ReadPosRankSum=0.973;SOR=0.574	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr1	26185065	26185065	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon14:c.G1208A:p.R403Q,CNKSR1:NM_001297648:exon14:c.G413A:p.R138Q,CNKSR1:NM_006314:exon14:c.G1187A:p.R396Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00431676747355	.	.	5.023e-05	0	0	0	0	9.119e-05	0	0	2.59e-05	4	154602	rs775999289	3.51e-05	3.557e-05	3.834e-05	3.182e-05	5.847e-05	2.713e-05	2.453e-05	2.373e-05	2.106e-05	0	0	0	2.526e-05	0	0	3.242e-05	0.0001	5.847e-05	3.286e-05	3.283e-05	3.855e-05	2.691e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.303	0.15149	T	0.349	0.17585	T	0.07	0.23866	B	0.003	0.08700	B	0.466569	0.04901	N	1.277140	1	0.08975	N	0.1	0.08449	N	2.67	0.12473	T	-0.8	0.24244	N	0.213	0.24385	-1.0228	0.22802	T	0.024	0.10103	T	10	0.044643342	0.03444	T	0.004317	0.10498	T	0.120	0.33359	0.309	0.28128	0.112648838833	0.10856	0.12752296023919515	0.12678	0.245692011296	0.27094	0.229523807764	0.01933	T	0.004696	0.04103	T	-0.413977	0.01871	T	-0.832426	0.01220	T	0.0411290603381231	0.03896	T	0.790621	0.43132	T	0.03546157	0.04178	0.029241994	0.01241	0.03546157	0.04177	0.029241994	0.01241	-4.614	0.32347	T	.	.	0.075	0.06756	B	.;.;.	.;.;.	0.779480	0.11495	8.097	0.97006577690500473	0.31965	0.08272	0.14223	N	AEFDBHCI	0.080974	0.16379	N	-1.01782019317899	0.08234	0.3853517	-1.10399734532525	0.07624	0.3715553	0.999966912180475	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.55	-7.95	0.01015	-0.403000	0.07275	-3.919000	0.02452	0.671000	0.69459	0.209000	0.24412	0.000000	0.08366	0.841000	0.39698	0.3722:0.2586:0.2532:0.116	1.805	0.02892	414	0.81871	Pleckstrin homology domain;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	948.33	33	chr1	26185065	.	G	A	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=2.15;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	18	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1073.33	33	chr1	26188770	.	A	G	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.555;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.034;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:44:99:0|1:26282323_A_*:2037,1287,1238:26282323	14	0	5	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9511.94	43	chr1	26282334	.	TGGGGCCG	*	9511.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.55;DP=897;ExcessHet=0.233;FS=18.578;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.394;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,13:46:99:0|1:26282323_A_*:2094,1366,1343:26282323	15	0	4	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	9447.43	43	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	9447.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.65;DP=928;ExcessHet=0.233;FS=19.632;InbreedingCoeff=0.229;MLEAC=4;MLEAF=0.105;MQ=59.91;MQRankSum=0;QD=18.78;ReadPosRankSum=-1.19;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:46:99:0|1:26282323_A_*:2094,1366,1343:26282323	15	0	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,33:46:99:1|1:26282323_A_*:1663,115,0:26282323	9	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,358:.	8	0	8	3
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,358:.	5	4	4	6
chr1	26282384	26282405	GGGCCGGGACCGGGACCGGGAC	-	exonic	UBXN11	.	frameshift deletion	UBXN11:NM_001077262:exon11:c.1097_1118del:p.C366Sfs*34,UBXN11:NM_145345:exon15:c.1358_1379del:p.C453Sfs*34,UBXN11:NM_183008:exon16:c.1457_1478del:p.C486Sfs*34	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	0.0729	0.0043	0	0	0.0044	0.0094	0	0.0001537	4	26028	rs762635882	0.0020	0.0018	0.0022	0.0018	0.0510	0.0019	0.0019	0.0478	0.0465	0.0510	0.0036	0.0186	0	0	0.0090	0.0004	0.0068	0.0002	0.0092	0.0090	0.0092	0.0093	0.0350	0.0087	0.0085	0.0331	0.0323	0.0350	0	0.0046	0.0088	0	0	0.0053	0.0005	0.0094	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	G	993.49	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,358:.	13	0	1	5
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,358:.	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:44,0:44:0:.:.:0,0,358:.	7	4	5	3
chr1	26282444	26282444	C	T	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon11:c.G1058A:p.R353Q,UBXN11:NM_145345:exon15:c.G1319A:p.R440Q,UBXN11:NM_183008:exon16:c.G1418A:p.R473Q	.	348	1172	2	0	0	2	0.000852515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0174437974148	0.0005	0.000798722	0.0005	0.0001	0.0002	0.0004	0	0.0006	0.0011	0.0008	0.0003881	60	154602	rs200674226	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	7.007e-05	0.0009	5.612e-05	0.0002	0.0007	0.0010	0.0006	0.0007	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0001	0.0006	0.0007	9.464e-05	0	0.0004	0.0005	0.0010	0.103	0.33753	T	0.138	0.39492	T	0.062	0.26825	B	0.008	0.18140	B	0.322056	0.14254	N	0.664814	1	0.08975	N	1.345	0.33447	L	2.22	0.18248	T	-1.23	0.33401	N	0.171	0.38232	-1.0224	0.22932	T	0.027	0.11663	T	10	0.010591477	0.00235	T	0.017444	0.39139	T	0.028	0.06331	.	.	0.0920862733494	0.08535	0.2625469754084854	0.26167	0.206375539285	0.23064	0.479744434357	0.36021	T	0.013438	0.23874	T	-0.552108	0.00283	T	-0.658577	0.08363	T	0.00526143282321337	0.00057	T	0.686431	0.29515	T	0.023981681	0.01186	0.033361726	0.02219	0.023981681	0.01186	0.033361726	0.02218	-3.832	0.21283	T	.	.	0.085	0.12560	B	.;.;.;.;.;.	.;.;.;.;.;.	0.453843	0.08239	4.979	0.82152821452285019	0.14045	0.03639	0.08887	N	AEFDBHCI	0.039508	0.05748	N	-1.23483809909766	0.04503	0.2033829	-1.25532124229736	0.05052	0.2398467	0.999998420869673	0.74766	0.650006	0.45971	0	0.606735	0.50208	0	0.519653	0.09787	0	0.636168	0.56350	0	.	.	4.99	0.889	0.18346	-0.127000	0.10524	-0.389000	0.09488	-1.859000	0.00563	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6175:0.1405:0.242	5.578	0.16517	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1193.33	62	chr1	26282444	.	C	T	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=1139;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.589;SOR=1.005	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1207,0,1535	18	0	1	0
chr1	26284470	26284470	G	A	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon7:c.C505T:p.R169C,UBXN11:NM_145345:exon11:c.C766T:p.R256C,UBXN11:NM_183008:exon12:c.C865T:p.R289C	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	.	7.9e-05	0.00519169	0.0017	0.0001	0	0.0229	0	6.161e-05	0	0.0001	0.0015847	245	154602	rs138559558	0.0005	0.0005	0.0005	0.0005	0.0160	0.0005	0.0005	0.0150	0.0145	0.0004	4.617e-05	0.0004	0.0160	0	0.0005	4.717e-05	0.0007	0.0002	0.0009	0.0009	0.0008	0.0009	0.0214	0.0008	0.0007	0.0182	0.0170	0.0002	0	6.532e-05	0.0014	0.0214	0	0	4.41e-05	0	0.0010	0.003	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.058644	0.999953	0.52396	D	3.22	0.89398	M	1.85	0.24472	T	-5.9	0.90254	D	0.794	0.79406	-0.7714	0.56781	T	0.106	0.38611	T	10	0.008171558	0.00185	T	.	.	.	0.368	0.68757	.	.	0.569599524359	0.56625	0.8716997061784545	0.87135	0.853217115918	0.68640	0.499685287476	0.38784	T	0.389526	0.80444	T	-0.245498	0.14657	T	-0.106493	0.62889	T	0.268695537586335	0.23691	T	0.961704	0.85587	D	0.85743666	0.87891	0.6855567	0.81511	0.85743666	0.87893	0.6855567	0.81512	-6.899	0.53292	T	.	.	0.248	0.51832	B	.;.;.;.;.;.	.;.;.;.;.;.	5.985288	0.94262	34	0.99938012597302794	0.99698	0.93924	0.59587	D	AEFDBHCI	0.675966	0.64117	D	0.679233768290586	0.78272	6.838191	0.58716091538518	0.74020	6.066372	0.999999999919107	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	4.6	4.6	0.56512	4.639000	0.61058	9.619000	0.81102	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	13.260	0.59531	404	0.82510	.;SEP domain|SEP domain;.;SEP domain|SEP domain;.;SEP domain|SEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	378.33	35	chr1	26284470	.	G	A	378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=606;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.333;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,15:25:99:392,0,245	18	0	1	0
chr1	26294315	26294315	T	C	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_145345:exon8:c.A350G:p.Y117C,UBXN11:NM_183008:exon9:c.A449G:p.Y150C	.	424	1075	23	0	0	23	0.0105844	.	.	.	4020691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.306	.	0.0085	0.00479233	0.0075	0.0021	0.0056	0	0.0039	0.0110	0.0089	0.0027	0.0074967	1159	154602	rs56039743	0.0081	0.0081	0.0081	0.0081	0.0094	0.0080	0.0080	0.0091	0.0091	0.0013	0.0080	0.0060	2.52e-05	0.0049	0.0094	0.0093	0.0077	0.0024	0.0073	0.0073	0.0072	0.0074	0.0138	0.0069	0.0068	0.0123	0.0117	0.0020	0	0.0138	0.0063	0	0.0033	0.0068	0.0107	0.0086	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000059	0.53742	D	0.130665	0.997931	0.81001	D	3.09	0.87444	M	0.5	0.55608	T	-7.47	0.96650	D	0.888	0.89465	-0.4720	0.69655	T	0.203	0.56017	T	10	0.009522021	0.00215	T	.	.	.	0.306	0.62729	.	.	0.818815103583	0.81710	0.6959017511605471	0.69531	0.816803305336	0.66976	0.475634157658	0.35456	T	0.470849	0.80379	T	-0.280537	0.10611	T	-0.16536	0.57867	T	0.0576908197512842	0.06800	T	0.920308	0.75457	D	0.84115255	0.86691	0.6131216	0.77487	0.84115255	0.86692	0.6131216	0.77488	-9.808	0.72754	D	.	.	0.345	0.71484	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.930376	0.81284	27.5	0.99736209884532367	0.83119	0.88646	0.48672	D	AEFDBI	0.706819	0.66176	D	0.663422277386861	0.77239	6.636827	0.614251459734911	0.75972	6.406438	0.999999973302697	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.0	5.0	0.66209	4.257000	0.58607	7.780000	0.68649	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.377	0.54615	396	0.82953	.;.;.;.;.;.;.;.;.	.	.	.	.	rs56039743	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.010870	0.002924	0.100000	0.000000	0.027439	0.015152	0.02632	1067.33	39	chr1	26294315	.	T	C	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.279;DP=704;ExcessHet=0;FS=2.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.447;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	18	0	1	0
chr1	26300943	26300943	G	C	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon4:c.C182G:p.A61G,UBXN11:NM_183008:exon5:c.C182G:p.A61G	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0220678641844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.39575	T	0.066	0.92824	T	0.827	0.63424	P	0.258	0.56425	B	0.222896	0.16097	N	0.591910	1	0.19781	N	2.175	0.60977	M	0.29	0.58897	T	-1.22	0.39119	N	0.221	0.24758	-0.9065	0.47274	T	0.224	0.58843	T	10	0.19327256	0.35089	T	0.022068	0.44919	T	0.184	0.45763	0.222	0.14518	0.695489126173	0.69286	0.25404249405222135	0.25318	0.631637362583	0.57115	0.32625579834	0.14368	T	0.046288	0.27380	T	-0.028709	0.47604	T	-0.279015	0.46905	T	0.587667524814606	0.35915	D	0.756224	0.37950	T	0.043288875	0.06718	0.06504885	0.13126	0.043288875	0.06718	0.06504885	0.13126	-3.192	0.12383	T	.	.	0.108	0.33778	B	.;.;.;.;.;.	.;.;.;.;.;.	3.019512	0.40410	21.2	0.99141967171707424	0.53573	0.43796	0.27177	N	AEFDGBHCI	0.172631	0.29967	N	-0.256641455995331	0.30839	1.723393	-0.371645805383036	0.25845	1.423912	0.999685262839225	0.41756	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.03	2.1	0.26226	1.824000	0.38710	4.619000	0.44068	-0.169000	0.11342	0.993000	0.37899	0.971000	0.29754	0.238000	0.22948	0.1114:0.2048:0.6838:0.0	5.463	0.15921	394	0.83065	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2951.33	37	chr1	26300943	.	G	C	2951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=978;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.619;SOR=0.771	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr1	26344556	26344556	T	C	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.A2102G:p.D701G	.	426	1083	13	0	0	13	0.00596604	.	.	.	3239258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0.0017	0	0	0	0.0057	0	0.0023	0.0009638	149	154602	rs199647245	0.0035	0.0033	0.0035	0.0034	0.0060	0.0034	0.0034	0.0044	0.0038	0.0006	0.0028	0.0020	0	0.0005	0.0060	0.0040	0.0034	0.0018	0.0030	0.0030	0.0029	0.0031	0.0058	0.0028	0.0027	0.0048	0.0045	0.0007	0	0.0058	0.0017	0	0.0005	0.0034	0.0045	0.0057	0.0021	.	.	.	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.005120486	0.00111	T	.	.	.	.	.	.	.	0.563948154196	0.56057	0.09080917579449849	0.09013	.	.	0.261729449034	0.05099	T	.	.	.	-0.575919	0.00204	T	-0.598953	0.12899	T	.	.	.	0.424958	0.11391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.12084	B	.;.;.	.;.;.	-0.246383	0.02861	0.404	0.77606991183132512	0.11946	0.00651	0.02833	N	AEFBI	.	.	.	.	.	.	.	.	.	0.69739734522868	0.22657	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0755104	0.17533	4.79	-6.05	0.01988	-1.143000	0.03311	-2.148000	0.04142	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.0:0.1275:0.1045:0.768	9.985	0.41008	358	0.85037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007797	0.015789	0.000000	0.000000	0.000000	0.000000	0.013761	0.008772	0.02632	1912.33	116	chr1	26344556	.	T	C	1912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=1728;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=1.2;SOR=0.62	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	18	0	1	0
chr1	26344778	26344778	G	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.C1880A:p.S627Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760812107	1.879e-05	1.779e-05	1.569e-05	2.197e-05	0.0001	1.307e-05	1.111e-05	6.764e-05	5.134e-05	3.165e-05	0	0	0	0	0	1.39e-05	0	0.0001	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.999986	0.18198	N	.	.	.	.	.	.	.	.	.	0.263	0.29774	.	.	.	.	.	.	.	0.13154641	0.25035	T	.	.	.	.	.	.	.	0.580477355671	0.57718	0.10198229083526915	0.10129	.	.	0.377882987261	0.21955	T	.	.	.	-0.294757	0.09164	T	-0.391874	0.34332	T	.	.	.	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30130	B	.;.;.	.;.;.	2.104108	0.26772	17.23	0.67489279986379791	0.08370	0.08433	0.14363	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.722871080225	0.22953	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0590733	0.14162	3.64	2.7	0.31007	1.365000	0.33786	1.509000	0.27011	0.509000	0.23192	0.003000	0.16062	0.045000	0.21693	0.033000	0.13494	0.0:0.2076:0.7924:0.0	9.987	0.41019	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	116	chr1	26344778	.	G	T	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.669;DP=1897;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.806;SOR=0.769	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005359	0.000000	0.001416	0.006993	0.000000	0.019608	0.006369	0.007812	0.02632	2806.33	116	chr1	26344884	.	A	G	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.55;DP=2043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.12;QD=15.34;ReadPosRankSum=-0.051;SOR=0.665	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.02632	2311.33	39	chr1	26346482	.	C	T	2311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=976;ExcessHet=0;FS=3.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.23;SOR=0.971	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1424	18	0	1	0
chr1	26365020	26365020	G	T	exonic	ZNF683	.	nonsynonymous SNV	ZNF683:NM_001114759:exon4:c.C526A:p.P176T,ZNF683:NM_001307925:exon4:c.C526A:p.P176T,ZNF683:NM_173574:exon4:c.C526A:p.P176T	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00878447779739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.088e-06	2.052e-06	1.382e-06	2.805e-06	0.0004	5.6e-07	1.5e-07	6.248e-05	2.579e-05	0	0	0	0	0	0.0004	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.173	0.44106	T	0.144	0.30426	B	0.053	0.31755	B	0.176153	0.17232	N	0.491933	1	0.08975	N	1.385	0.34509	L	3.03	0.30669	T	-1.76	0.73267	N	0.18	0.23758	-1.0194	0.23910	T	0.043	0.18659	T	10	0.0695374	0.09990	T	0.008784	0.23172	T	0.018	0.03083	0.22	0.14224	0.400613892164	0.39671	0.1873188024499111	0.18649	.	.	0.225670903921	0.01663	T	0.012024	0.10639	T	-0.210189	0.19353	T	-0.539698	0.18325	T	0.121039401956797	0.14531	T	0.706929	0.32075	T	0.06056702	0.12443	0.07961971	0.17939	0.06056702	0.12442	0.07961971	0.17939	-4.411	0.30001	T	.	.	0.312	0.53936	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.733759	0.11029	7.686	0.98676741316540129	0.44554	0.16886	0.19593	N	AEFDBI	0.048497	0.08280	N	-1.00917790210632	0.08412	0.394359	-1.01767875197903	0.09397	0.4672717	0.865925792053994	0.25318	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.49	2.63	0.30420	0.174000	0.16557	3.098000	0.36308	-0.732000	0.03721	0.000000	0.06391	0.853000	0.27411	0.019000	0.11356	0.2157:0.0:0.7843:0.0	6.548	0.21611	342	0.85871	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	757.33	35	chr1	26365020	.	G	T	757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=745;ExcessHet=0;FS=6.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.645;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1374	18	0	1	0
chr1	26554682	26554682	G	A	exonic	RPS6KA1	.	nonsynonymous SNV	RPS6KA1:NM_001006665:exon8:c.G727A:p.V243I,RPS6KA1:NM_001330441:exon8:c.G652A:p.V218I,RPS6KA1:NM_002953:exon9:c.G700A:p.V234I	.	425	1094	3	0	0	3	0.00136924	.	.	.	2292253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.0217873372819	0.0003	0.000199681	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0009	0.0003428	53	154602	rs141533618	0.0004	0.0004	0.0003	0.0004	0.0049	0.0004	0.0003	0.0035	0.0030	8.967e-05	6.714e-05	0.0040	0	0	0.0049	0.0003	0.0005	0.0011	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.406e-05	0	0.0002	0.0023	0	0	0.0034	0.0004	0.0005	0.0008	0.212	0.19500	T	0.248	0.24767	T	0.014	0.30546	B	0.012	0.24394	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.615	0.02190	N	0.03	0.62183	T	-0.86	0.23372	N	0.357	0.41360	-0.7591	0.57455	T	0.120	0.41865	T	10	0.020593107	0.00477	T	0.021787	0.44605	T	0.278	0.59497	.	.	0.511703644722	0.50811	0.467100860956812	0.46629	0.625160716341	0.56697	0.815209388733	0.84292	D	0.086498	0.37738	T	-0.2928	0.09356	T	-0.262186	0.48605	T	0.0660685642776311	0.08089	T	.	.	.	0.22766589	0.45472	0.15948509	0.37192	0.22766589	0.45472	0.15948509	0.37192	-10.182	0.74994	D	.	.	0.181	0.44267	B	.;.;.;.;.	.;.;.;.;.	5.425811	0.90754	31	0.99883093219846308	0.95892	0.98244	0.80876	D	AEFDGBI	0.874607	0.79757	D	0.00357769032128422	0.42017	2.523845	0.208367989483742	0.50312	3.22451	0.999999999995598	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.74	0.59717	8.142000	0.89535	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0749:0.0:0.9251:0.0	13.518	0.61008	350	0.85473	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2589.83	34	chr1	26554682	.	G	A	2589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.622;DP=858;ExcessHet=0.119;FS=1.084;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.3;SOR=0.778	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr1	26773690	26773690	-	GCA	exonic	ARID1A	.	nonframeshift insertion	ARID1A:NM_006015:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ,ARID1A:NM_139135:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ	Coffin-Siris syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	237025	not_provided|Intellectual_disability,_autosomal_dominant_14|not_specified	MedGen:C3661900|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0024	0.0017	0.0039	0.0002	0.0015	0.0056	0.0183	0.0006531	17	26028	rs570962335	0.0028	0.0028	0.0023	0.0033	0.0181	0.0027	0.0027	0.0174	0.0171	0.0026	0.0014	0	0.0023	0.0004	0.0023	0.0018	0.0039	0.0181	0.0025	0.0026	0.0023	0.0028	0.0181	0.0023	0.0023	0.0150	0.0139	0.0033	0	0.0012	0	0.0044	0	0	0.0017	0.0029	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1965.29	36	chr1	26773690	.	C	CGCA	1965.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=809;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.229;SOR=0.936	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	18	0	1	0
chr1	26941505	26941505	C	G	exonic	NUDC	.	nonsynonymous SNV	NUDC:NM_006600:exon3:c.C208G:p.R70G	.	400	1112	10	0	0	10	0.00447628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0374294250573	0.0002	0.000199681	0.0007	0	8.951e-05	0	0.0036	0.0004	0.0035	0.0018	0.0005563	86	154602	rs140994074	0.0005	0.0005	0.0004	0.0005	0.0021	0.0005	0.0004	0.0018	0.0017	2.987e-05	0	0	0	0.0049	0.0009	0.0002	0.0006	0.0021	0.0007	0.0007	0.0003	0.0011	0.0017	0.0006	0.0005	0.0008	0.0006	0	0	0	0	0	0.0063	0	0.0004	0	0.0017	0.11	0.29158	T	0.15	0.32461	T	0.049	0.22227	B	0.051	0.25434	B	0.000213	0.47681	D	0.195339	0.967019	0.38567	D	2.125	0.59049	M	-1.46	0.80983	T	-1.89	0.47683	N	0.535	0.56317	-0.4701	0.69721	T	0.365	0.72552	T	10	0.0084267855	0.00191	T	0.037429	0.57609	D	0.328	0.65026	.	.	0.592835706617	0.58961	0.1518294282214161	0.15104	0.395548173852	0.40695	0.474954456091	0.35363	T	0.03094	0.31371	T	-0.265669	0.12244	T	-0.167621	0.57660	T	0.022494501876782	0.00964	T	0.859714	0.58632	D	0.17628387	0.38533	0.18019171	0.40802	0.17628387	0.38533	0.18019171	0.40801	-4.89	0.35622	T	.	.	0.235	0.46802	B	.;.;.	.;.;.	3.521413	0.49360	22.8	0.99212397930101859	0.55624	0.98834	0.87468	D	AEFDBI	0.862121	0.78034	D	-0.0865932595654072	0.37980	2.217585	-0.00312990692144431	0.39574	2.348515	0.999735223601244	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	3.42	0.38259	4.668000	0.61262	4.865000	0.45508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.2628:0.7372:0.0:0.0	14.716	0.68887	584	0.69381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	895.33	34	chr1	26941505	.	C	G	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-1.635;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	18	0	1	0
chr1	26952319	26952319	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.G62A:p.R21Q	.	430	1089	3	0	0	3	0.00137552	.	.	.	2093075	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.055	.	7.8e-05	0.0159744	0.0075	0.0003	0.0003	0.0898	0	0.0002	0.0067	0.0021	0.0062742	970	154602	rs79374331	0.0022	0.0022	0.0023	0.0022	0.0647	0.0021	0.0021	0.0626	0.0618	0.0004	0.0003	0.0005	0.0647	6.195e-05	0.0002	5.983e-05	0.0052	0.0018	0.0035	0.0035	0.0030	0.0039	0.0869	0.0032	0.0031	0.0803	0.0777	0.0004	0	0.0009	0.0009	0.0869	9.422e-05	0	0.0001	0.0076	0.0039	0.237	0.17881	T	0.29	0.21011	T	0.0	0.02946	B	0.002	0.06944	B	0.487057	0.12099	N	0.735034	0.999999	0.08975	N	0.895	0.22405	L	1.75	0.26152	T	-1.52	0.36980	N	0.067	0.08227	-1.0681	0.09836	T	0.002	0.00769	T	10	0.001434356	0.00016	T	.	.	.	0.055	0.15663	.	.	0.0716867268079	0.06686	0.23139817615868727	0.23054	0.330282350711	0.35118	0.469108700752	0.34558	T	0.045741	0.27215	T	-0.76678	0.00014	T	-0.796725	0.01986	T	0.165060549974442	0.18238	T	0.592841	0.21881	T	0.019023059	0.00427	0.050857984	0.08067	0.02347194	0.01090	0.050857984	0.08066	-4.235	0.27255	T	0.07461476990931483	0.03250	0.058	0.17402	B	.;.	.;.	-0.347864	0.02414	0.271	0.86577065051531577	0.16629	0.08339	0.14281	N	ALL	0.052742	0.09441	N	-1.931860316926	0.00295	0.01266101	-2.01916305155554	0.00279	0.01230962	1.0	0.98316	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.0	-9.99	0.00358	-1.310000	0.02834	-4.755000	0.02001	-3.045000	0.00133	0.000000	0.06391	0.000000	0.08366	0.331000	0.25224	0.0:0.7722:0.0:0.2278	20.275	0.98487	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	509.33	38	chr1	26952319	.	C	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=692;ExcessHet=0;FS=2.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.203;SOR=1.251	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	18	0	1	0
chr1	27006750	27006750	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G472A:p.G158S	.	.	.	.	.	.	.	.	.	.	.	4088150	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0236539478175	.	.	2.477e-05	0	0.0002	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs752260246	1.573e-05	1.573e-05	1.906e-05	1.238e-05	0.0002	1.048e-05	8.75e-06	8.861e-05	6.427e-05	0	0.0002	0.0001	0	0	0	9.892e-06	0	1.159e-05	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.941e-05	0	0	0.079	0.33753	T	0.088	0.40586	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.75	0.26152	T	-4.62	0.79143	D	0.496	0.52918	-0.8505	0.51933	T	0.185	0.53421	T	10	0.60049486	0.66884	D	0.023654	0.46630	T	0.227	0.52620	0.683	0.82078	0.600985507913	0.59780	0.48889514797706396	0.48809	1.22376613677	0.81152	0.569766223431	0.48644	T	0.175033	0.52448	T	-0.262862	0.12567	T	-0.330646	0.41398	T	0.621272325515747	0.37258	D	0.987801	0.95853	D	0.40532866	0.61100	0.34760758	0.60412	0.40532866	0.61100	0.34760758	0.60412	-7.679	0.58862	D	.	.	0.136	0.29642	B	.	.	4.465785	0.69550	25.4	0.99810209708738717	0.89442	0.57978	0.30519	D	AEFDBHCI	0.672198	0.63868	D	0.493492559628235	0.66709	4.985286	0.375086149182116	0.60032	4.186589	0.999999999800979	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.749866	0.98131	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	3.787000	0.55144	5.987000	0.52266	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	19.212	0.93743	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3417.33	41	chr1	27006750	.	C	T	3417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=882;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.014;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr1	27347429	27347429	G	A	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon3:c.G200A:p.R67Q,SYTL1:NM_032872:exon3:c.G200A:p.R67Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	4070164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0231101527919	.	.	0.0001	9.688e-05	8.652e-05	0	0	0	0.0011	0.0009	0.0001164	18	154602	rs762786293	9.852e-05	9.85e-05	7.488e-05	0.0001	0.0009	8.512e-05	7.982e-05	0.0008	0.0007	0	0	0	2.519e-05	0	0	5.576e-05	3.312e-05	0.0009	5.252e-05	5.249e-05	6.424e-05	4.027e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	2.406e-05	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0008	0.273	0.23721	T	0.748	0.31833	T	0.96	0.55278	D	0.346	0.42645	B	0.068085	0.21696	N	0.456409	0.963833	0.38371	D	1.2	0.30300	L	-1.05	0.76690	T	-0.86	0.24026	N	0.291	0.34336	-0.1590	0.78696	T	0.423	0.76750	T	10	0.08181381	0.13434	T	0.02311	0.46051	T	0.226	0.52472	.	.	0.815792830342	0.81405	0.21600092023560696	0.21516	0.438384567869	0.43873	0.378318697214	0.22018	T	0.013737	0.33946	T	-0.366834	0.03757	T	-0.340241	0.40318	T	0.090157373670038	0.11238	T	0.863714	0.56064	D	0.1897087	0.40525	0.09277423	0.21881	0.1897087	0.40524	0.09277423	0.21881	-6.605	0.52193	T	.	.	0.134	0.29032	B	.;.;.;.;.	.;.;.;.;.	4.147863	0.62199	24.4	0.99918124427670707	0.98586	0.71832	0.35185	D	ALL	0.280316	0.39416	N	0.27087320729241	0.54679	3.632862	0.321059979348586	0.56778	3.841805	0.99999999997774	0.74766	0.787689	0.99735	0	0.643519	0.57511	0	0.0	0.00061	3	0.604944	0.38103	0	.	.	4.35	4.35	0.51454	4.136000	0.57766	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.788	0.78097	538	0.73119	Rab-binding domain;.;Rab-binding domain;Rab-binding domain;Rab-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	646.33	34	chr1	27347429	.	G	A	646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=670;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.039;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr1	27357477	27357477	C	T	exonic	MAP3K6	.	nonsynonymous SNV	MAP3K6:NM_001297609:exon22:c.G3157A:p.A1053T,MAP3K6:NM_004672:exon23:c.G3181A:p.A1061T	.	422	1099	1	0	0	1	0.000454752	.	.	.	3220542	MAP3K6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.0234018767237	.	0.00199681	0.0008	0	0.0004	0.0048	0.0005	0.0002	0.0022	0.0019	0.0007438	115	154602	rs55990440	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0044	0.0042	2.987e-05	0.0002	0	0.0050	0.0001	0.0005	0.0002	0.0002	0.0015	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0033	0	0	0	0	0.0054	0.0004	0	0.0002	0	0.0017	0.41	0.10180	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.997863	0.22470	N	1.48	0.37141	L	-0.16	0.65378	T	0.28	0.05035	N	0.089	0.08646	-1.0357	0.18637	T	0.087	0.33857	T	9	0.0072818696	0.00166	T	0.023402	0.46358	T	0.044	0.11924	.	.	0.476051820916	0.47233	0.06145786836009261	0.06085	0.302824668568	0.32607	0.447279274464	0.31573	T	0.021762	0.16890	T	-0.506238	0.00527	T	-0.499412	0.22410	T	0.0266466276510501	0.01494	T	0.366163	0.08539	T	0.027222708	0.01883	0.06661916	0.13670	0.031573597	0.03022	0.058532152	0.10831	-4.975	0.36568	T	.	.	0.081	0.08417	B	.;.;.	.;.;.	1.720920	0.21908	15.40	0.98260316825372096	0.39658	0.22802	0.21868	N	ALL	0.142338	0.26475	N	-0.581922781037059	0.19494	1.020694	-0.45170864738025	0.23501	1.281891	0.999999998659419	0.74766	0.656854	0.48797	0	0.552344	0.17405	0	0.64067	0.45733	0	0.699908	0.69081	0	.	.	5.0	4.07	0.46726	0.622000	0.24127	0.406000	0.18056	-0.176000	0.10722	0.068000	0.22015	0.136000	0.23046	0.391000	0.26581	0.0:0.7406:0.1686:0.0908	7.331	0.25758	576	0.70006	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1165.33	34	chr1	27357477	.	C	T	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.313;DP=709;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-0.898;SOR=0.4	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr1	27370960	27370960	G	A	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon5:c.C373T:p.R125C,FCN3:NM_003665:exon6:c.C406T:p.R136C	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.0511410558428	0.0002	.	0.0001	0	8.697e-05	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs142828984	0.0001	0.0001	0.0001	0.0001	0.0002	8.924e-05	8.408e-05	9.757e-05	9.162e-05	0	6.711e-05	0	2.52e-05	0	0.0002	0.0001	0.0001	0.0001	5.918e-05	5.908e-05	3.859e-05	8.071e-05	0.0002	3.079e-05	2.212e-05	2.848e-05	1.86e-05	2.41e-05	0	0	0	0.0002	0.0002	0	7.357e-05	0	0	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.975	0.73362	D	0.175819	0.17241	N	0.451222	0.999892	0.20048	N	4.72	0.99514	H	-2.08	0.86010	D	-7.58	0.95276	D	0.603	0.62103	0.000	0.82266	D	0.759	0.91784	D	10	0.7818458	0.77919	D	0.051141	0.64539	D	0.537	0.80605	.	.	0.869482924268	0.86821	0.8362960841815625	0.83589	0.556748901551	0.52318	0.360099047422	0.19400	T	0.369283	0.73402	T	0.0623492	0.59908	T	0.111463	0.77670	D	0.583051419860008	0.35736	D	0.989679	0.96647	D	0.8697072	0.88838	0.65652937	0.79888	0.8697072	0.88839	0.65652937	0.79889	-9.611	0.71548	D	.	.	0.787	0.76856	P	.;.	.;.	3.515144	0.49250	22.7	0.99642994792175033	0.76756	0.03511	0.08689	N	AEFBI	0.322713	0.42512	N	-0.0217521193037863	0.40873	2.434807	-0.319350912504885	0.27474	1.524753	0.999756396758113	0.42595	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	-1.91	0.07225	-0.465000	0.06757	-1.246000	0.05919	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.4284:0.1352:0.3063:0.13	1.816	0.02913	607	0.67291	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000508	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1975.33	34	chr1	27370960	.	G	A	1975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.053;DP=816;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.511;SOR=0.472	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	18	0	1	0
chr1	27382550	27382550	G	A	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.C206T:p.A69V,CD164L2:NM_207397:exon2:c.C206T:p.A69V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0266706934812	.	.	5.811e-05	0	8.681e-05	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs752238611	2.737e-05	2.805e-05	2.042e-05	3.438e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	2.987e-05	0	3.828e-05	2.519e-05	0	0.0002	6.295e-06	3.313e-05	0.0003	1.973e-05	1.97e-05	0	4.038e-05	7.249e-05	5.24e-06	2.46e-06	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.282	0.21745	T	0.995	0.67487	D	0.867	0.61644	P	0.004549	0.33627	N	0.137340	0.999301	0.21385	N	1.83	0.48079	L	0.78	0.49358	T	-0.8	0.22078	N	0.398	0.43899	-0.8566	0.51505	T	0.208	0.56690	T	10	0.2749509	0.45050	T	0.026671	0.49557	D	0.153	0.40148	0.463	0.53242	0.428976297845	0.42518	0.23753529275139842	0.23668	0.522732140916	0.49992	0.364011764526	0.19968	T	0.005945	0.05383	T	-0.308577	0.07874	T	-0.35906	0.38161	T	0.257726091041467	0.23215	T	0.785921	0.42389	T	0.14123851	0.32553	0.21273972	0.45756	0.14123851	0.32553	0.21273972	0.45755	-4.166	0.26257	T	.	.	0.094	0.14660	B	.;.	.;.	2.908509	0.38574	20.8	0.99896634484330127	0.96971	0.28080	0.23455	N	AEFBI	0.157824	0.28340	N	0.234765584190659	0.52888	3.460525	0.130912670518095	0.46137	2.864783	0.999998187891892	0.74766	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	2.568000	0.45628	5.001000	0.46597	0.676000	0.76740	0.354000	0.25792	0.999000	0.35428	0.046000	0.14843	0.0:0.0:1.0:0.0	12.878	0.57391	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	126	chr1	27382550	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=1623;ExcessHet=0;FS=6.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.149;SOR=1.667	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr1	27418324	27418324	C	G	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_001201404:exon4:c.G364C:p.E122Q,WASF2:NM_006990:exon4:c.G364C:p.E122Q	.	429	1074	17	2	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0226103108088	0.0035	0.000798722	0.0032	0.0006	0.0012	0	0.0023	0.0052	0.0044	0.0005	0.0031306	484	154602	rs150650907	0.0038	0.0038	0.0039	0.0036	0.0041	0.0037	0.0036	0.0040	0.0040	0.0005	0.0016	0.0160	0	0.0022	0.0040	0.0041	0.0034	0.0006	0.0029	0.0029	0.0033	0.0025	0.0043	0.0027	0.0026	0.0039	0.0037	0.0006	0.0022	0.0020	0.0179	0	0.0022	0.0034	0.0043	0.0033	0.0002	0.006	0.61437	D	0.009	0.72224	D	0.986	0.61523	D	0.554	0.49340	P	0.000000	0.84330	D	0.048157	0.999999	0.58761	D	2.3	0.65703	M	0.76	0.49919	T	-2.55	0.55181	D	0.533	0.56489	-0.5264	0.67677	T	0.235	0.60160	T	10	0.009358048	0.00211	T	0.02261	0.45515	T	0.191	0.46948	.	.	0.228066490088	0.22430	0.26111864371395105	0.26024	.	.	0.500428497791	0.38888	T	0.517685	0.83073	D	-0.382147	0.03020	T	-0.321301	0.42431	T	0.0444692806161846	0.04506	T	0.965203	0.87125	D	0.5294593	0.68799	0.3332761	0.59166	0.5294593	0.68800	0.3332761	0.59165	-9.644	0.71753	D	.	.	0.290	0.52144	B	.;.	.;.	4.081960	0.60724	24.3	0.98768162741469456	0.45924	0.94154	0.60276	D	AEFGBHCI	0.910819	0.86925	D	0.723800241785311	0.81193	7.465077	0.728380266336098	0.84532	8.318636	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.601644	0.32324	0	0.735409	0.98432	0	.	.	5.37	5.37	0.76949	7.490000	0.80277	7.706000	0.66547	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.733	0.91708	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1129.33	113	chr1	27418324	.	C	G	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.212;DP=741;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.092;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	0	1	0
chr1	27548749	27548749	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G3367A:p.A1123T,AHDC1:NM_001371928:exon8:c.G3367A:p.A1123T	Xia-Gibbs syndrome, Autosomal dominant	298	1223	1	0	0	1	0.000408664	.	.	.	1290852	AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome|not_provided	MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	0.00624511785642	.	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0014	0.0002264	35	154602	rs534403874	0.0001	0.0001	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	2.987e-05	2.236e-05	0	0	0	0.0010	8.004e-05	0.0001	0.0013	9.846e-05	9.842e-05	0.0001	8.054e-05	0.0008	6.001e-05	4.875e-05	0.0003	0.0002	2.405e-05	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0008	0.154	0.24277	T	0.164	0.31026	T	0.046	0.21875	B	0.034	0.22546	B	0.000699	0.42383	D	0.090873	0.999037	0.45921	D	0.345	0.11182	N	0.68	0.51952	T	-0.41	0.14000	N	0.263	0.30004	-1.0578	0.12311	T	0.080	0.31586	T	10	0.017439753	0.00372	T	0.006245	0.16376	T	0.164	0.42212	0.216	0.13643	0.523447128704	0.51990	0.33549067145994144	0.33462	1.20852012436	0.80762	0.562551438808	0.47628	T	0.033242	0.22831	T	-0.275671	0.11131	T	-0.219199	0.52814	T	0.0440016501925001	0.04421	T	0.717128	0.32987	T	0.049711432	0.08869	0.06652893	0.13640	0.049711432	0.08868	0.06652893	0.13640	-3.674	0.18935	T	.	.	0.093	0.14201	B	.;.;.;.;.	.;.;.;.;.	3.323944	0.45731	22.2	0.99735740615581514	0.83119	0.79323	0.39285	D	AEFDBI	0.168484	0.29525	N	-0.0302622557751789	0.40488	2.405322	0.195562633947806	0.49602	3.161548	0.999999998012763	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	2.946000	0.48742	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8454:0.0:0.1546	9.139	0.36052	421	0.81399	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2078.33	36	chr1	27548749	.	C	T	2078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=838;ExcessHet=0;FS=4.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.165;SOR=1.032	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1180	18	0	1	0
chr1	27960209	27960209	-	GCTGGT	exonic	XKR8	.	nonframeshift insertion	XKR8:NM_018053:exon1:c.140_141insGCTGGT:p.L50_A51insVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2070.77	28	chr1	27960209	.	C	CGCTGGT	2070.77	.	AC=2;AF=0.053;AN=38;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.62;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	1	0	0
chr1	28742692	28742692	G	A	exonic	YTHDF2	.	nonsynonymous SNV	YTHDF2:NM_001172828:exon3:c.G272A:p.G91E,YTHDF2:NM_016258:exon4:c.G422A:p.G141E,YTHDF2:NM_001173128:exon5:c.G422A:p.G141E	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0435313814451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.721	0.54900	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.33	0.58323	T	-4.88	0.81350	D	0.896	0.89577	-0.2721	0.75755	T	0.358	0.72022	T	10	0.5935905	0.66517	D	0.043531	0.61033	D	0.427	0.73445	0.149	0.05238	0.518106105948	0.51454	0.9272307967262285	0.92701	1.79519715807	0.91566	0.885727643967	0.94717	D	0.083126	0.60613	T	0.335881	0.85558	D	0.244694	0.85368	D	0.995035290718079	0.86718	D	0.927907	0.73422	D	0.9297093	0.94208	0.9080837	0.95552	0.9297093	0.94208	0.9080837	0.95553	-6.407	0.49564	T	.	.	0.550	0.75962	A	.;.;.;.;.	.;.;.;.;.	5.183133	0.86912	29.1	0.99690904787807388	0.79909	0.96853	0.71294	D	AEFDGBCI	0.939371	0.93989	D	0.76296009998889	0.83747	8.098913	0.753209701184853	0.86397	8.875923	0.999999999985495	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	7.906000	0.86803	11.874000	0.98652	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.886	0.88770	406	0.82375	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1686.33	40	chr1	28742692	.	G	A	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=817;ExcessHet=0;FS=6.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.151;SOR=0.518	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	29053167	29053167	G	A	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_203343:exon11:c.G1595A:p.G532D,EPB41:NM_001166005:exon12:c.G1700A:p.G567D,EPB41:NM_001166006:exon12:c.G1700A:p.G567D,EPB41:NM_001166007:exon12:c.G1073A:p.G358D,EPB41:NM_001376013:exon12:c.G1700A:p.G567D,EPB41:NM_001376014:exon12:c.G1700A:p.G567D,EPB41:NM_001376015:exon12:c.G1700A:p.G567D,EPB41:NM_001376016:exon12:c.G1700A:p.G567D,EPB41:NM_001376017:exon12:c.G1700A:p.G567D,EPB41:NM_001376018:exon12:c.G1697A:p.G566D,EPB41:NM_001376019:exon12:c.G1700A:p.G567D,EPB41:NM_001376020:exon12:c.G1697A:p.G566D,EPB41:NM_001376021:exon12:c.G1700A:p.G567D,EPB41:NM_001376022:exon12:c.G1073A:p.G358D,EPB41:NM_001376023:exon12:c.G1073A:p.G358D,EPB41:NM_001376024:exon12:c.G1073A:p.G358D,EPB41:NM_001376025:exon12:c.G1073A:p.G358D,EPB41:NM_001376026:exon12:c.G1070A:p.G357D,EPB41:NM_001376027:exon12:c.G1073A:p.G358D,EPB41:NM_001376028:exon12:c.G1070A:p.G357D,EPB41:NM_004437:exon13:c.G1073A:p.G358D,EPB41:NM_203342:exon13:c.G1073A:p.G358D	Elliptocytosis-1	0	1492	29	1	0	31	0.0102819	.	.	.	1321656	EPB41-related_disorder|Inborn_genetic_diseases|Elliptocytosis_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.277	0.0199769473619	0.0061	0.000199681	0.0050	0.0011	0.0023	0	0.0033	0.0077	0.0077	0.0016	0.0049417	764	154602	rs138888144	0.0061	0.0061	0.0061	0.0061	0.0165	0.0060	0.0059	0.0138	0.0128	0.0010	0.0030	0.0081	0	0.0055	0.0165	0.0069	0.0050	0.0014	0.0047	0.0047	0.0047	0.0047	0.0074	0.0044	0.0043	0.0068	0.0066	0.0012	0.0132	0.0042	0.0069	0	0.0045	0.0136	0.0074	0.0066	0.0004	0.021	0.51853	D	0.138	0.39954	T	0.004	0.26920	B	0.029	0.28749	B	0.196448	0.03288	N	1.534880	0.652487	0.32976	D	0.895	0.22405	L	-1.77	0.83660	D	-1.06	0.43906	N	0.144	0.20395	-0.7321	0.58857	T	0.309	0.67940	T	10	0.0050061643	0.00108	T	0.019977	0.42475	T	0.277	0.59375	.	.	0.930195457544	0.92948	0.3747680992223965	0.37390	0.287816497828	0.31183	0.409954726696	0.26450	T	0.236326	0.60378	T	-0.319991	0.06898	T	-0.226872	0.52074	T	0.0112944826415415	0.00167	T	0.947805	0.84537	D	0.10836176	0.25621	0.13836642	0.33047	0.1353887	0.31424	0.21048068	0.45435	-2.579	0.09861	T	.	.	0.102	0.27613	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.824098	0.55237	23.6	0.99226171492765292	0.56057	0.90623	0.51953	D	AEFGBI	0.333950	0.43287	N	-0.115002076717417	0.36739	2.127702	0.139535605570237	0.46592	2.902559	0.947295427054179	0.27746	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	3.858000	0.55690	9.942000	0.82663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0771:0.0:0.9229:0.0	12.721	0.56513	445	0.79730	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008560	0.005051	0.013587	0.011696	0.100000	0.000000	0.003049	0.003788	0.02632	983.33	40	chr1	29053167	.	G	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=697;ExcessHet=0;FS=3.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.831;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	18	0	1	0
chr1	29148591	29148591	C	A	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.G1304T:p.G435V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00588966019828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.501e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.037	0.51737	D	0.002	0.09854	B	0.002	0.06944	B	0.956056	0.08255	N	0.979536	0.686779	0.33287	D	0.69	0.16971	N	2.57	0.13552	T	-0.22	0.10480	N	0.159	0.16586	-1.0321	0.19777	T	0.023	0.09650	T	10	0.04528168	0.03580	T	0.00589	0.15340	T	0.026	0.05648	0.3	0.26683	0.0675242888579	0.06100	0.3610260803287025	0.36016	0.280662396977	0.30540	0.292278558016	0.09255	T	0.005682	0.05129	T	-0.258806	0.13039	T	-0.609534	0.12022	T	0.0865541344015449	0.10803	T	0.620638	0.23835	T	0.10890291	0.25749	0.072136045	0.15528	0.10890291	0.25748	0.072136045	0.15528	-4.659	0.32904	T	.	.	0.071	0.03811	B	.	.	1.557113	0.19948	14.52	0.93527406122129009	0.23347	0.42744	0.26946	N	AEFDBHCI	0.311889	0.41749	N	-0.964175417960093	0.09377	0.4435444	-0.931993449666819	0.11342	0.5771868	0.770787100787119	0.23668	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	-0.955	0.09828	0.234000	0.17708	0.113000	0.14809	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.2126:0.2009:0.5205:0.0661	7.422	0.26248	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3646.33	305	chr1	29148591	.	C	A	3646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.473;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.19;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	29148664	29148664	C	T	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.G1231A:p.V411M	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00268325250806	0.0003	0.000998403	0.0002	0.0015	0.0002	0	0	4.505e-05	0	0.0002	0.0001876	29	154602	rs148605776	0.0001	0.0001	9.256e-05	0.0001	0.0022	8.847e-05	8.333e-05	0.0018	0.0016	0.0022	0.0002	0	0	0	0.0010	2.878e-05	0.0002	0.0002	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0003	0	0	0	0.0034	2.941e-05	0.0005	0.0002	0.095	0.31235	T	0.106	0.37872	T	0.002	0.09854	B	0.001	0.04355	B	0.006527	0.01129	N	2.860430	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.17	0.09627	N	0.068	0.04072	-0.9921	0.32063	T	0.039	0.16849	T	10	0.0043317676	0.00088	T	0.002683	0.05492	T	0.011	0.01250	.	.	0.215239754934	0.21150	0.15618389817388648	0.15539	0.224907285127	0.25025	0.253161787987	0.04108	T	0.009709	0.08820	T	-0.672454	0.00053	T	-0.763337	0.02994	T	0.00158846704289317	0.00016	T	0.59644	0.22167	T	0.036011916	0.04350	0.041680586	0.04792	0.036011916	0.04350	0.041680586	0.04792	-5.499	0.41858	T	.	.	0.099	0.16713	B	.	.	1.527274	0.19602	14.34	0.7798090487681888	0.12105	0.22436	0.21746	N	AEFDGBHCI	0.067846	0.13358	N	-1.16278510005247	0.05573	0.2543889	-1.17615908544801	0.06310	0.3033224	0.923505422821898	0.26746	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.63	-0.122	0.12871	0.171000	0.16497	1.180000	0.24688	-0.172000	0.11096	0.000000	0.06391	0.010000	0.20010	0.709000	0.34421	0.0:0.5451:0.2304:0.2246	7.912	0.28960	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2979.33	60	chr1	29148664	.	C	T	2979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.95;DP=910;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.53;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	29200516	29200516	G	A	exonic	MECR	.	nonsynonymous SNV	MECR:NM_001024732:exon7:c.C602T:p.A201V,MECR:NM_001349717:exon7:c.C680T:p.A227V,MECR:NM_016011:exon7:c.C830T:p.A277V,MECR:NM_001349714:exon8:c.C602T:p.A201V,MECR:NM_001349715:exon8:c.C935T:p.A312V,MECR:NM_001349716:exon8:c.C914T:p.A305V,MECR:NM_001349712:exon9:c.C602T:p.A201V,MECR:NM_001349713:exon9:c.C602T:p.A201V,MECR:NM_001349711:exon10:c.C602T:p.A201V	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, Autosomal recessive	426	1073	22	1	0	24	0.0110599	0.9915	0.68	YES	707333	MECR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	0.00365927473957	0.0060	0.00179712	0.0050	0.0012	0.0044	0.0002	0.0009	0.0076	0.0089	0.0011	0.0050905	787	154602	rs148978800	0.0053	0.0053	0.0052	0.0054	0.0134	0.0052	0.0052	0.0110	0.0101	0.0007	0.0050	0.0047	5.043e-05	0.0020	0.0134	0.0060	0.0054	0.0019	0.0043	0.0043	0.0041	0.0044	0.0068	0.0040	0.0039	0.0063	0.0061	0.0011	0	0.0055	0.0043	0	0.0012	0.0136	0.0068	0.0076	0.0023	0.279	0.15665	T	0.28	0.21678	T	0.965	0.56013	D	0.335	0.42239	B	0.022007	0.26719	N	0.436137	0.951477	0.37741	D	2.245	0.63543	M	3.44	0.05375	T	-2.05	0.47008	N	0.325	0.37301	-1.0626	0.11118	T	0.016	0.06711	T	10	0.008695304	0.00197	T	0.003659	0.08433	T	0.129	0.35316	.	.	0.36893422563	0.36505	0.43285098999829047	0.43202	0.332101082199	0.35269	0.527409076691	0.42670	T	0.157764	0.50051	T	-0.509183	0.00507	T	-0.499336	0.22416	T	0.025077138779693	0.01282	T	0.952205	0.81731	D	0.3505237	0.57108	0.29653013	0.55685	0.35769466	0.57660	0.26496005	0.52321	-7.904	0.66138	D	.	.	0.200	0.42520	B	.;.	.;.	4.292476	0.65474	24.8	0.99735820091042626	0.83119	0.88157	0.47962	D	AEFBI	0.551325	0.56344	D	0.535232211720341	0.69190	5.321718	0.572281702077018	0.72959	5.892862	0.999767314863219	0.42728	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.75	0.59954	4.613000	0.60880	7.110000	0.57563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1517:0.7088:0.1395	10.263	0.42620	539	0.73055	.;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009082	0.015152	0.012228	0.000000	0.000000	0.017241	0.015337	0.003788	0.02632	1544.33	41	chr1	29200516	.	G	A	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=758;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.061;SOR=0.551	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1558,0,1113	18	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.07895	2793.79	38	chr1	29275715	.	G	T	2793.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.813;DP=793;ExcessHet=0.3672;FS=1.161;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.061;SOR=0.57	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1160	16	0	3	0
chr1	29279033	29279033	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon9:c.A1475C:p.E492A,PTPRU:NM_005704:exon9:c.A1475C:p.E492A,PTPRU:NM_133177:exon9:c.A1475C:p.E492A,PTPRU:NM_133178:exon9:c.A1475C:p.E492A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0403148726591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.402e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.682e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.003	0.76473	D	0.999	0.77913	D	0.999	0.92359	D	0.000011	0.62929	D	0.065249	1	0.81001	D	1.865	0.49290	L	0.64	0.52867	T	-4.09	0.74821	D	0.608	0.66016	-0.5449	0.66978	T	0.291	0.66316	T	9	0.6366019	0.68817	D	0.040315	0.59308	D	0.460	0.75755	0.425	0.47021	0.367638622828	0.36380	0.5581836534350619	0.55745	1.26243223783	0.82077	0.749131679535	0.74318	T	0.335952	0.70551	T	0.037897	0.56770	T	-0.18334	0.56211	T	0.983167522394134	0.74933	D	0.89781	0.64256	D	0.2773714	0.50795	0.28455254	0.54455	0.2773714	0.50795	0.28455254	0.54454	-9.045	0.68057	D	.	.	0.146	0.37464	B	.;.;.;.	.;.;.;.	4.310324	0.65883	24.9	0.99621748187133408	0.75473	0.99782	0.99427	D	AEFBI	0.942030	0.94607	D	0.712018896990165	0.80422	7.290332	0.684840130914072	0.81228	7.477806	0.999999997136311	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.75	5.75	0.90390	9.255000	0.94710	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	1.0:0.0:0.0:0.0	15.230	0.73070	370	0.84343	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2656.81	35	chr1	29279033	.	A	C	2656.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.89;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	18	1	0	0
chr1	30739047	30739047	G	A	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon5:c.C403T:p.P135S	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0068	0.00379393	0.0123	0.0018	0.0084	0	0.0716	0.0162	0.0242	0.0009	0.0067852	1049	154602	rs34101571	0.0092	0.0092	0.0093	0.0090	0.0093	0.0090	0.0090	0.0092	0.0091	0.0015	0.0057	0.0133	0	0.0325	0.0089	0.0093	0.0085	0.0012	0.0081	0.0081	0.0071	0.0093	0.0087	0.0078	0.0076	0.0082	0.0079	0.0019	0	0.0069	0.0121	0	0.0360	0.0306	0.0087	0.0085	0.0014	0.182	0.21801	T	0.231	0.25061	T	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.071834	0.912274	0.36443	D	2.82	0.82106	M	-0.04	0.63240	T	-3.14	0.64019	D	0.442	0.48042	-0.2830	0.75458	T	0.253	0.62281	T	10	0.0086191	0.00195	T	.	.	.	0.508	0.78848	.	.	0.713346928536	0.71084	0.7722297890996368	0.77172	0.451262029509	0.44877	0.497715383768	0.38509	T	0.376112	0.73957	T	-0.131729	0.31217	T	0.0459654	0.73317	D	0.0293732744053332	0.01894	T	0.752425	0.37456	T	0.15051475	0.34262	0.17167628	0.39367	0.15051475	0.34261	0.17167628	0.39366	-2.585	0.06390	T	.	.	0.200	0.42404	B	.	.	3.249846	0.44396	21.9	0.99629821214065184	0.75959	0.79126	0.39151	D	AEFGBHCI	0.502431	0.53485	D	0.297796703602127	0.56036	3.767906	0.219991395826243	0.50956	3.282586	0.999999987528689	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.73	4.81	0.61401	4.314000	0.58957	6.720000	0.56427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.1653:0.8347:0.0	12.726	0.56545	958	0.09170	.	.	.	.	.	rs34101571	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.009537	0.000000	0.050000	0.017241	0.009202	0.011364	0.05263	2302.83	35	chr1	30739047	.	G	A	2302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=786;ExcessHet=0.119;FS=3.334;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.918;SOR=0.476	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	17	0	2	0
chr1	30874503	30874503	A	G	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon4:c.T956C:p.L319P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0089981601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.29554	T	0.288	0.21144	T	0.029	0.19866	B	0.043	0.24256	B	0.034535	0.24758	N	0.264673	0.999995	0.58761	D	0.345	0.11182	N	1.86	0.24285	T	-1.28	0.32185	N	0.171	0.20129	-1.0678	0.09903	T	0.032	0.13679	T	10	0.15684229	0.29531	T	0.008998	0.23702	T	0.066	0.19193	0.486	0.56939	0.0675242888579	0.06100	0.4410987517300895	0.44026	0.107582986679	0.12137	0.614895343781	0.55007	T	0.224717	0.58924	T	-0.168908	0.25401	T	-0.480401	0.24405	T	0.402903013743265	0.29051	T	0.751525	0.37371	T	0.21559717	0.43996	0.2139758	0.45930	0.21559717	0.43996	0.2139758	0.45929	-6.19	0.47842	T	.	.	0.216	0.44540	B	.;.	.;.	3.908537	0.56988	23.8	0.99759961821388821	0.85011	0.94127	0.60194	D	AEFDBI	0.869554	0.79014	D	-0.330054006808246	0.28010	1.541537	-0.155631872855687	0.33192	1.896153	0.995190107933657	0.33999	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.84	3.69	0.41483	4.138000	0.57780	9.167000	0.79017	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.9132:0.0:0.0868:0.0	10.691	0.45067	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.33	34	chr1	30874503	.	A	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.016;DP=761;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.923;SOR=0.614	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	30950129	30950129	T	C	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon17:c.A2854G:p.I952V	.	432	1072	17	1	0	19	0.0087841	0.2044	0.386	.	2330725	PUM1-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00648079709676	0.0015	0.00159744	0.0018	0.0006	0.0004	0	0.0026	0.0016	0.0011	0.0053	0.0017464	270	154602	rs146226392	0.0022	0.0022	0.0021	0.0023	0.0048	0.0021	0.0021	0.0045	0.0043	0.0006	0.0002	0.0028	0	0.0028	0.0033	0.0021	0.0020	0.0048	0.0015	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0024	0.0020	0.0004	0	0.0003	0.0014	0.0002	0.0037	0.0034	0.0022	0.0005	0.0037	0.048	0.41096	D	0.335	0.22426	T	0.794	0.44757	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.56	0.13673	T	-0.12	0.09135	N	0.406	0.45047	-0.8005	0.55115	T	0.220	0.58306	T	10	0.008738935	0.00198	T	0.006481	0.17072	T	0.115	0.32236	.	.	0.253981072376	0.25009	0.43349379434496876	0.43266	0.94141016562	0.72219	0.800033688545	0.81968	T	.	.	.	-0.491766	0.00636	T	-0.478898	0.24562	T	0.0158499845269969	0.00372	T	0.935206	0.76795	D	.	.	.	.	.	.	.	.	-6.86	0.53543	T	.	.	0.163	0.47869	B	.;.;.;.;.	.;.;.;.;.	4.001011	0.58953	24.0	0.99614163822304869	0.74992	0.97769	0.77000	D	AEFBI	0.717234	0.66882	D	0.64073511389563	0.75770	6.365108	0.648192337306219	0.78475	6.884009	0.999764620529313	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	6.167000	0.71757	5.175000	0.47843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.355	0.74137	946	0.12043	Pumilio homology domain|Pumilio, RNA binding domain;.;.;Pumilio homology domain|Pumilio, RNA binding domain;Pumilio homology domain|Pumilio, RNA binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1498.33	42	chr1	30950129	.	T	C	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.028;DP=763;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.19;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	18	0	1	0
chr1	30968359	30968359	A	G	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon11:c.T1640C:p.M547T,PUM1:NM_014676:exon11:c.T1640C:p.M547T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00466071807528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.373	0.42976	T	0.99	0.63424	D	0.943	0.67921	D	0.000000	0.84330	D	0.037908	0.999997	0.58761	D	1.24	0.30952	L	2.29	0.18083	T	-2.09	0.48523	N	0.485	0.59648	-1.1435	0.01232	T	0.091	0.34928	T	10	0.33329615	0.50521	T	0.004661	0.11566	T	0.180	0.45073	0.297	0.26202	0.110392049598	0.10638	0.5996395349103022	0.59894	0.868767990995	0.69325	0.848411917686	0.89374	D	0.031207	0.51454	T	-0.0125823	0.49902	T	-0.25585	0.49236	T	0.861843049526215	0.51220	D	0.974403	0.91204	D	0.67831075	0.76878	0.61479557	0.77580	0.67831075	0.76879	0.61479557	0.77581	-8.859	0.68013	D	.	.	0.698	0.75024	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.745213	0.76564	26.5	0.99318785206797	0.59317	0.99773	0.99362	D	AEFDBHI	0.921556	0.89521	D	0.60749967524852	0.73647	6.000622	0.674933193178663	0.80480	7.308158	0.999999999999832	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.87	5.87	0.94266	9.155000	0.93856	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	16.576	0.84532	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	864.33	35	chr1	30968359	.	A	G	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=705;ExcessHet=0;FS=3.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.923;SOR=1.356	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	31433100	31433100	G	A	exonic	SERINC2	.	nonsynonymous SNV	SERINC2:NM_001199037:exon9:c.G1159A:p.G387S,SERINC2:NM_018565:exon9:c.G1159A:p.G387S,SERINC2:NM_178865:exon9:c.G1147A:p.G383S,SERINC2:NM_001199038:exon10:c.G1174A:p.G392S,SERINC2:NM_001199039:exon10:c.G982A:p.G328S	.	.	.	.	.	.	.	.	.	.	.	2756293	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00580370762457	0.0002	.	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0.0001229	19	154602	rs139258648	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0001	6.709e-05	0.0004	2.519e-05	1.888e-05	0.0005	0.0002	0.0003	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.17e-05	6.725e-05	9.045e-05	7.01e-05	7.242e-05	0	6.551e-05	0.0009	0.0002	0	0	0.0002	0	0	0.113	0.28772	T	0.119	0.36101	T	.	.	.	.	.	.	0.001927	0.37643	N	0.255793	0.999867	0.50061	D	2.285	0.65182	M	2.56	0.13673	T	-3.76	0.71519	D	0.269	0.30461	-1.0621	0.11239	T	0.027	0.11485	T	10	0.11856571	0.22418	T	0.005804	0.15072	T	0.077	0.22490	.	.	0.144782658237	0.14088	0.7290678967909441	0.72851	0.134925717983	0.15200	0.349360466003	0.17828	T	0.022915	0.17585	T	-0.455196	0.01052	T	-0.612199	0.11807	T	0.179050028324127	0.19175	T	0.915808	0.69967	D	0.05044727	0.09115	0.12748903	0.30689	0.05044727	0.09114	0.12748903	0.30688	-5.517	0.42545	T	.	.	0.075	0.10062	B	.;.;.;.	.;.;.;.	1.770638	0.22515	15.65	0.99313520427835045	0.59092	0.48731	0.28273	N	AEFDGBCI	0.637158	0.61604	D	-0.356854781223742	0.27021	1.479276	-0.390359605734874	0.25282	1.389484	0.999414640880003	0.39577	0.706298	0.61202	0	0.670034	0.63936	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.45	2.5	0.29355	1.207000	0.31938	1.833000	0.29130	0.642000	0.52262	0.866000	0.30720	0.970000	0.29701	0.234000	0.22842	0.0927:0.0:0.5669:0.3404	5.849	0.17934	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	40	chr1	31433100	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=849;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.573;SOR=0.808	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr1	31630678	31630678	C	T	exonic	PEF1	.	nonsynonymous SNV	PEF1:NM_001359651:exon5:c.G580A:p.V194I,PEF1:NM_012392:exon5:c.G790A:p.V264I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0322941109451	.	.	1.651e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs749213335	9.58e-06	9.577e-06	8.17e-06	1.1e-05	2.319e-05	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	2.236e-05	0	0	0	0	8.093e-06	3.314e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.352	0.17372	T	0.292	0.32352	B	0.157	0.34536	B	0.000029	0.55875	D	0.182237	1	0.81001	D	0.69	0.16971	N	-2.61	0.89953	D	-0.28	0.11547	N	0.083	0.05929	-0.7371	0.58601	T	0.373	0.73197	T	10	0.112713546	0.21150	T	0.032294	0.54161	D	0.137	0.36984	0.384	0.40298	0.796836870525	0.79494	0.21046161801998248	0.20962	0.263583704205	0.28913	0.316879570484	0.12948	T	0.033702	0.23022	T	-0.0867564	0.38611	T	-0.34691	0.39559	T	0.123238015708055	0.14744	T	0.886711	0.61387	D	0.033587255	0.03606	0.0372023	0.03324	0.033587255	0.03606	0.0372023	0.03324	-4.114	0.25496	T	.	.	0.093	0.14062	B	.	.	2.845102	0.37545	20.5	0.9830498106327249	0.40087	0.34025	0.24969	N	AEFBI	0.088939	0.18029	N	-0.567102313601807	0.19950	1.048148	-0.514844502436166	0.21749	1.178075	0.98629197340845	0.31038	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	0.898	0.18397	1.055000	0.30077	0.756000	0.21276	0.599000	0.40250	0.707000	0.28693	0.243000	0.23865	0.997000	0.79791	0.0:0.3482:0.3266:0.3252	4.134	0.09630	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	40	chr1	31630678	.	C	T	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=824;ExcessHet=0;FS=4.367;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.896;SOR=0.86	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr1	31633200	31633200	T	C	exonic	PEF1	.	nonsynonymous SNV	PEF1:NM_001359651:exon3:c.A230G:p.N77S,PEF1:NM_012392:exon3:c.A440G:p.N147S	.	.	.	.	.	.	.	.	.	.	.	3372297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0499204400765	7.7e-05	0.000199681	8.37e-05	9.974e-05	8.772e-05	0.0003	0	4.541e-05	0	0.0001	7.76e-05	12	154602	rs143340788	7.73e-05	7.73e-05	7.215e-05	8.251e-05	0.0007	6.533e-05	6.136e-05	0.0004	0.0003	0.0006	0.0001	0.0002	0.0001	0	0.0007	5.666e-05	0.0001	4.639e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.14e-05	7.697e-05	0.0001	9.907e-05	0.0002	0	0.0003	0	0.0002	0	0	7.349e-05	0.0005	0	0.069	0.35537	T	0.088	0.40586	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.53	0.70833	T	-4.4	0.77308	D	0.696	0.70088	-0.2331	0.76806	T	0.439	0.77802	T	10	0.5887908	0.66262	D	0.04992	0.64023	D	0.500	0.78350	.	.	0.832391418235	0.83080	0.41320747691155246	0.41236	0.558772882634	0.52446	0.599169194698	0.52786	T	0.426518	0.77629	T	-0.31505	0.07310	T	-0.33629	0.40763	T	0.498733520507812	0.32583	T	0.89721	0.64041	D	0.33601928	0.55961	0.25720724	0.51433	0.33601928	0.55961	0.25720724	0.51433	-9.227	0.69146	D	.	.	0.148	0.32661	B	.	.	4.700130	0.75395	26.3	0.99848833892072564	0.92838	0.95748	0.65986	D	AEFDGBHCI	0.954066	0.97087	D	0.594217362527285	0.72814	5.865127	0.564253049218635	0.72393	5.80304	0.999999999999994	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	4.84	4.84	0.62125	7.629000	0.82391	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	14.083	0.64460	740	0.53092	EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2494.81	34	chr1	31633200	.	T	C	2494.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.68;SOR=0.917	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1320	18	1	0	0
chr1	31668830	31668830	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon50:c.C3221T:p.T1074M	.	.	.	.	.	.	.	.	.	.	.	2698896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.18454125841	.	.	3.336e-05	0	0	0	0.0002	1.51e-05	0	0.0001	2.59e-05	4	154602	rs773451673	1.505e-05	1.505e-05	1.361e-05	1.65e-05	6.956e-05	9.85e-06	8.42e-06	2.995e-05	2.038e-05	2.987e-05	2.237e-05	0	2.519e-05	1.875e-05	0	8.993e-06	3.312e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.104	0.38160	T	0.958	0.54977	D	0.568	0.49807	P	0.038295	0.24302	N	0.430418	0.942792	0.26740	N	0.83	0.20963	L	-3.27	0.93640	D	-0.89	0.24026	N	0.209	0.23253	0.088	0.83954	D	0.660	0.88186	D	10	0.44614658	0.58409	T	0.184541	0.85756	D	0.284	0.60219	0.34	0.33141	0.749791253662	0.74752	0.19524506561112973	0.19441	0.162573078674	0.18344	0.360701739788	0.19488	T	0.175337	0.52488	T	-0.168885	0.25404	T	-0.29884	0.44846	T	0.107229605317116	0.13134	T	0.887811	0.61653	D	0.024960272	0.01382	0.054724287	0.09465	0.024960272	0.01382	0.054724287	0.09464	-4.411	0.29706	T	.	.	0.079	0.07177	B	.	.	1.878890	0.23864	16.18	0.96883136633543376	0.31469	0.10737	0.16157	N	AEFBI	0.174835	0.30198	N	-0.428567574193107	0.24473	1.321626	-0.542405290054595	0.21008	1.13445	0.999607239160562	0.40866	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.34	-0.746	0.10535	0.552000	0.23083	0.710000	0.20927	-0.168000	0.11412	0.220000	0.24536	0.188000	0.23474	0.219000	0.22435	0.0:0.2335:0.7665:0.0	15.637	0.76716	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1285.83	40	chr1	31668830	.	G	A	1285.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.927;DP=758;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=2.1;SOR=0.668	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1292	17	0	2	0
chr1	31815206	31815206	G	A	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.C128T:p.P43L,SPOCD1:NM_144569:exon2:c.C128T:p.P43L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00299521	0.0012	0	0	0.0001	0	0	0.0011	0.0089	0.0010802	167	154602	rs201180859	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	0.0001	0	0.0003	1.174e-05	0.0007	0.0080	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0093	0.002	0.72154	D	0.009	0.66756	D	0.035	0.23051	B	0.007	0.17743	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.76	0.25996	T	-1.77	0.41809	N	0.115	0.10340	-1.0211	0.23357	T	0.036	0.15726	T	9	0.0039680004	0.00076	T	.	.	.	0.049	0.13647	0.147	0.05039	0.112648838833	0.10856	0.13778246354056656	0.13702	0.151239746874	0.17072	0.29333627224	0.09411	T	0.018298	0.14778	T	-0.621381	0.00108	T	-0.658666	0.08357	T	0.0182966789058894	0.00548	T	0.528347	0.17454	T	0.030406425	0.02698	0.04805582	0.07055	0.030406425	0.02698	0.04805582	0.07055	-4.135	0.25819	T	.	.	0.085	0.22933	B	.;.	.;.	1.243718	0.16399	12.51	0.98582436689080466	0.43258	0.02013	0.06052	N	AEFDBI	0.047460	0.07993	N	-1.22447668081256	0.04647	0.2101809	-1.26572620158806	0.04902	0.2323485	0.99955634951253	0.40362	0.487112	0.14033	0	0.573888	0.26702	0	0.442705	0.06548	1	0.613276	0.41899	0	.	.	3.58	-0.712	0.10661	0.028000	0.13533	0.809000	0.21733	-0.113000	0.14837	0.000000	0.06391	0.005000	0.19230	0.000000	0.00833	0.2211:0.183:0.4083:0.1876	0.871	0.01137	523	0.74147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1078.33	45	chr1	31815206	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=801;ExcessHet=0;FS=1.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.123;SOR=0.981	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	32207792	32207792	A	C	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.A1351C:p.T451P,IQCC:NM_018134:exon5:c.A1111C:p.T371P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00129447588352	.	.	1.655e-05	0	0	0	0	1.507e-05	0	6.058e-05	1.29e-05	2	154602	rs769391019	4.105e-06	4.104e-06	0	8.251e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.17701	T	1.0	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.037499	0.24396	N	0.298320	1	0.08975	N	-0.75	0.01730	N	2.1	0.20959	T	2.65	0.00200	N	0.063	0.03502	-0.9564	0.39843	T	0.014	0.05705	T	10	0.025769353	0.00761	T	0.001294	0.01784	T	0.025	0.05312	0.361	0.36548	0.0138822411134	0.00435	0.036357816974854615	0.03582	0.0505186833795	0.05550	0.26987400651	0.06125	T	5.81E-4	0.00238	T	-0.403755	0.02188	T	-0.720888	0.04753	T	0.0345128881144507	0.02725	T	0.237176	0.03315	T	0.07096821	0.15677	0.05308882	0.08876	0.07096821	0.15676	0.05308882	0.08875	-1.837	0.02622	T	.	.	0.059	0.01075	B	.;.	.;.	0.502892	0.08720	5.493	0.69268304189853314	0.08918	0.00512	0.02396	N	AEFBCI	0.019914	0.00736	N	-1.47563155134793	0.02023	0.08890538	-1.40782077631289	0.03173	0.1474957	0.999658843862397	0.41424	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	3.88	1.95	0.25130	0.381000	0.20348	1.018000	0.23383	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2289:0.6542:0.0:0.1168	4.602	0.11749	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	891.33	46	chr1	32207792	.	A	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=768;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.081;SOR=0.944	GT:AD:DP:GQ:PL	0/1:46,35:81:99:905,0,1211	18	0	1	0
chr1	32363943	32363943	T	C	exonic	TSSK3	.	nonsynonymous SNV	TSSK3:NM_052841:exon2:c.T494C:p.L165P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.057208995812	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs758007232	1.026e-05	1.026e-05	4.084e-06	1.65e-05	0.0002	6.16e-06	4.89e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.024	0.56640	D	0.762	0.43602	P	0.621	0.51426	P	0.000169	0.48594	D	0.000000	1	0.81001	D	1.295	0.32453	L	-0.14	0.65006	T	-4.73	0.80085	D	0.757	0.75559	-0.3635	0.73159	T	0.327	0.69555	T	10	0.7029078	0.72556	D	0.057209	0.66885	D	0.721	0.90146	0.651	0.78858	0.884050608934	0.88291	0.9086360305400782	0.90837	0.112582882049	0.12714	0.622445881367	0.56074	T	0.160979	0.50504	T	0.136496	0.67989	D	0.194959	0.82851	D	0.684042513370514	0.39973	D	0.645735	0.25721	T	0.8561692	0.87795	0.81015223	0.88910	0.8561692	0.87796	0.81015223	0.88910	-6.023	0.46472	T	.	.	0.244	0.47848	B	.	.	4.730964	0.76202	26.5	0.99848515682344352	0.92838	0.99086	0.91019	D	AEFDGBCI	.	.	.	0.621549777872268	0.74540	6.149973	0.659531859431231	0.79323	7.058043	0.999999999999431	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	5.57	5.57	0.84021	6.240000	0.72321	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	14.877	0.70139	470	0.78111	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2305.33	33	chr1	32363943	.	T	C	2305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.577;DP=815;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.484;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	18	0	1	0
chr1	32769726	32769726	C	T	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon5:c.C463T:p.R155C,KIAA1522:NM_001369553:exon5:c.C496T:p.R166C,KIAA1522:NM_020888:exon5:c.C640T:p.R214C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0319225572582	.	.	2.557e-05	0	0.0002	0	0	1.53e-05	0	0	1.94e-05	3	154602	rs779455146	2.942e-05	3.078e-05	3.132e-05	2.751e-05	6.709e-05	2.217e-05	1.97e-05	2.117e-05	1.862e-05	0	6.709e-05	0	2.52e-05	5.62e-05	0	2.968e-05	3.314e-05	1.159e-05	3.292e-05	3.287e-05	3.862e-05	2.696e-05	0.0001	1.263e-05	7.99e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.416e-05	0	0	0.001	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.001368	0.39242	N	0.101468	0.891231	0.30697	N	2.215	0.62545	M	1.49	0.31470	T	-3.84	0.72240	D	0.5	0.53357	-0.9415	0.42378	T	0.150	0.47804	T	10	0.32255054	0.49603	T	0.031923	0.53888	D	0.109	0.30843	0.204	0.11936	0.193917141947	0.19028	0.39003021998428833	0.38918	0.161508369923	0.18230	0.635208368301	0.57884	T	0.126939	0.45365	T	-0.209576	0.19440	T	-0.341846	0.40135	T	0.74777352809906	0.43162	D	0.938506	0.76886	D	0.3170192	0.54387	0.21379304	0.45903	0.3170192	0.54387	0.21379304	0.45902	-9.309	0.69663	D	.	.	0.687	0.72438	P	.;.;.	.;.;.	4.074420	0.60556	24.2	0.99538849963727849	0.70336	0.61500	0.31502	D	ALL	0.259482	0.37782	N	0.260671983670777	0.54168	3.583157	0.16273945350973	0.47820	3.006639	0.999999999999961	0.74766	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.699875	0.68795	0	.	.	5.05	1.79	0.23992	0.463000	0.21683	0.029000	0.13704	0.549000	0.26987	0.985000	0.35982	0.001000	0.17328	0.703000	0.34233	0.5353:0.4646:0.0:0.0	12.832	0.57136	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	33	chr1	32769726	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.751;DP=656;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.328;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr1	32770882	32770882	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1526A:p.R509Q,KIAA1522:NM_001369553:exon6:c.G1559A:p.R520Q,KIAA1522:NM_020888:exon6:c.G1703A:p.R568Q	.	426	1076	20	0	0	20	0.0092081	.	.	.	2812595	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0089641833956	0.0048	0.00239617	0.0045	0.0012	0.0033	0	0.0018	0.0070	0.0093	0.0007	0.0041073	635	154602	rs138055320	0.0060	0.0060	0.0060	0.0060	0.0099	0.0059	0.0058	0.0079	0.0071	0.0009	0.0030	0.0122	2.52e-05	0.0009	0.0099	0.0069	0.0067	0.0006	0.0045	0.0045	0.0049	0.0042	0.0076	0.0042	0.0041	0.0071	0.0069	0.0013	0.0099	0.0037	0.0098	0	0.0007	0.0068	0.0076	0.0038	0.0004	0.171	0.23271	T	0.509	0.10857	T	0.109	0.26142	B	0.006	0.12133	B	0.028978	0.25522	N	0.253773	1	0.08975	N	1.445	0.36358	L	2.74	0.11839	T	-0.25	0.11008	N	0.236	0.27077	-0.9729	0.36583	T	0.013	0.04938	T	10	0.0036666095	0.00067	T	0.008964	0.23607	T	0.025	0.05312	.	.	0.0934897674506	0.08844	0.4001765116113369	0.39932	0.136235181936	0.15368	0.520894646645	0.41753	T	0.001507	0.00951	T	-0.661983	0.00061	T	-0.720222	0.04785	T	0.00430254910200466	0.00046	T	0.789121	0.42899	T	0.03285861	0.03392	0.03633452	0.03060	0.03285861	0.03391	0.03633452	0.03059	-3.276	0.13429	T	.	.	0.091	0.17488	B	.;.;.	.;.;.	2.562729	0.33191	19.27	0.9715571769007223	0.32607	0.22642	0.21815	N	AEFDBCI	0.092035	0.18636	N	-0.47588118031669	0.22873	1.224379	-0.336581876189434	0.26927	1.490688	0.999948965748003	0.47345	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	4.12	2.21	0.27042	0.938000	0.28562	4.354000	0.43097	-0.104000	0.15758	0.853000	0.30494	1.000000	0.68203	0.836000	0.39433	0.1587:0.1726:0.6687:0.0	6.163	0.19588	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010121	0.010417	0.010870	0.002941	0.000000	0.008621	0.009202	0.007576	0.02632	593.33	62	chr1	32770882	.	G	A	593.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.341;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	18	0	1	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T,KIAA1522:NM_001369553:exon6:c.G1921A:p.A641T,KIAA1522:NM_020888:exon6:c.G2065A:p.A689T	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.008152	0.008772	0.000000	0.000000	0.012195	0.018939	0.02632	999.33	62	chr1	32771244	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.229;DP=841;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=0.19;SOR=0.47	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	18	0	1	0
chr1	32771251	32771251	C	G	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.C1895G:p.A632G,KIAA1522:NM_001369553:exon6:c.C1928G:p.A643G,KIAA1522:NM_020888:exon6:c.C2072G:p.A691G	.	408	1042	70	2	0	74	0.034291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0069	0.00379393	0.0082	0.0022	0.0043	0.0001	0.0015	0.0103	0.0124	0.0125	0.0078783	1218	154602	rs115626337	0.0097	0.0097	0.0096	0.0099	0.0469	0.0096	0.0095	0.0423	0.0405	0.0026	0.0044	0.0243	7.561e-05	0.0014	0.0469	0.0100	0.0113	0.0130	0.0067	0.0068	0.0067	0.0068	0.0105	0.0064	0.0063	0.0099	0.0096	0.0020	0	0.0039	0.0199	0	0.0023	0.0374	0.0105	0.0076	0.0100	0.034	0.44029	D	0.54	0.09760	T	0.218	0.30213	B	0.075	0.28327	B	0.210624	0.16374	N	0.449731	0.999394	0.46900	D	1.59	0.40313	L	2.66	0.12575	T	0.04	0.09796	N	0.212	0.23632	-1.0223	0.22965	T	0.019	0.07986	T	10	0.0028108358	0.00044	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	0.2235688335380214	0.22271	0.118390049219	0.13333	0.390469789505	0.23736	T	0.002647	0.02035	T	-0.574737	0.00207	T	-0.587315	0.13899	T	0.012088385384825	0.00192	T	0.781022	0.41604	T	0.07077329	0.15617	0.07130961	0.15254	0.07077329	0.15617	0.07130961	0.15254	-4.781	0.34369	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.643608	0.20977	14.99	0.89004375021630677	0.18432	0.23939	0.22236	N	AEFDBCI	0.146826	0.27037	N	-0.677451775913046	0.16665	0.8510871	-0.712694711770594	0.16646	0.8815072	0.999999555097307	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.77	3.77	0.42499	3.239000	0.51058	1.282000	0.25358	0.599000	0.40250	0.281000	0.25150	0.025000	0.21018	0.013000	0.09966	0.2212:0.7788:0.0:0.0	8.999	0.35233	308	0.87611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041289	0.010101	0.044837	0.073099	0.000000	0.068966	0.018293	0.026515	0.05263	2919.83	161	chr1	32771251	.	C	G	2919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.175;DP=890;ExcessHet=0.119;FS=2.24;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.6;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	17	0	2	0
chr1	32782431	32782431	C	T	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon9:c.G1015A:p.A339T	.	1	1470	50	1	0	52	0.0173797	.	.	.	212087	not_provided|not_specified|Charcot-Marie-Tooth_disease_dominant_intermediate_C	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0005	0.00359425	0.0030	0.0004	0.0010	0	0	0.0010	0.0044	0.0170	0.0026843	415	154602	rs141323599	0.0019	0.0019	0.0015	0.0024	0.0163	0.0019	0.0019	0.0156	0.0154	0.0001	0.0007	3.826e-05	0	1.872e-05	0.0095	0.0011	0.0022	0.0163	0.0012	0.0012	0.0011	0.0014	0.0176	0.0011	0.0010	0.0146	0.0135	0.0002	0	0.0007	0	0.0004	0	0.0136	0.0011	0.0014	0.0176	0.341	0.12673	T	0.404	0.22359	T	0.002	0.09854	B	0.0	0.01387	B	0.022356	0.26651	N	0.454930	0.998439	0.44913	D	1.01	0.25309	L	-0.71	0.72889	T	-0.49	0.15578	N	0.135	0.13198	-0.8569	0.51484	T	0.208	0.56744	T	10	0.0041731894	0.00083	T	.	.	.	0.078	0.22779	.	.	0.7307814426	0.72839	0.24667008812608252	0.24581	0.330966287999	0.35175	0.421475112438	0.28040	T	0.151994	0.49219	T	-0.520911	0.00435	T	-0.507404	0.21583	T	0.00735544030599977	0.00084	T	0.782022	0.54691	T	0.110990934	0.26231	0.056756414	0.10197	0.11410718	0.26942	0.06377726	0.12684	-4.694	0.33331	T	0.08938174651911067	0.05458	0.070	0.03301	B	.;.	.;.	2.461577	0.31708	18.82	0.98406145097364284	0.41126	0.47895	0.28085	N	AEFGBCI	0.208756	0.33481	N	-0.443410377705995	0.23964	1.290636	-0.336812921959971	0.26920	1.490246	0.999557891892919	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635259	0.50027	0	.	.	4.65	3.74	0.42108	0.665000	0.24764	1.068000	0.23780	0.599000	0.40250	0.153000	0.23698	0.508000	0.25241	0.994000	0.71098	0.1465:0.7765:0.0:0.0771	9.054	0.35554	293	0.88320	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009714	0.000000	0.004076	0.011696	0.000000	0.008621	0.019231	0.015152	0.02632	1135.33	33	chr1	32782431	.	C	T	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=704;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.895;SOR=0.824	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1149,0,802	18	0	1	0
chr1	32868303	32868303	G	A	exonic	FNDC5	.	nonsynonymous SNV	FNDC5:NM_001171940:exon3:c.C296T:p.T99M,FNDC5:NM_001171941:exon3:c.C71T:p.T24M,FNDC5:NM_153756:exon3:c.C296T:p.T99M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.0298973156328	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754092673	1.231e-05	1.231e-05	1.225e-05	1.238e-05	2.987e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.965	0.53209	M	.	.	.	.	.	.	0.899	0.90363	-0.1479	0.78967	T	0.409	0.75775	T	9	0.9549825	0.94854	D	0.029897	0.52319	D	0.893	0.96947	.	.	0.493628743246	0.48995	0.6798292325625584	0.67921	.	.	0.877519845963	0.93625	D	0.255414	0.72774	T	0.360855	0.87320	D	0.377421	0.91340	D	0.930347860475047	0.59499	D	0.918608	0.70896	D	0.4956101	0.66836	0.34283602	0.60004	0.4956101	0.66837	0.34283602	0.60003	-6.649	0.65530	T	.	.	0.440	0.61685	A	.;.;.;.	.;.;.;.	5.040055	0.83879	28.2	0.99921656537439407	0.98787	0.98357	0.81958	D	AEFGBI	0.892402	0.82930	D	0.759992945745434	0.83556	8.047896	0.711443853783765	0.83248	7.972154	0.999999999851475	0.74766	0.580535	0.33130	0	0.632674	0.54651	1	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	9.242000	0.94535	9.920000	0.82497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:1.0:0.0	16.945	0.86099	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1109.33	34	chr1	32868303	.	G	A	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=743;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.267;SOR=0.856	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr1	32895376	32895376	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329723:exon4:c.G463A:p.V155I,TMEM54:NM_001329725:exon4:c.G364A:p.V122I,TMEM54:NM_001329722:exon5:c.G523A:p.V175I,TMEM54:NM_001329724:exon5:c.G424A:p.V142I,TMEM54:NM_033504:exon5:c.G523A:p.V175I	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0176524243056	.	0.00159744	0.0010	0	0	0	0	0.0001	0.0012	0.0071	0.0008926	138	154602	rs201782944	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.71e-05	0	0	0	0.0014	4.227e-05	0.0003	0.0058	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	5.881e-05	0	0.0046	0.615	0.05388	T	0.105	0.38016	T	0.716	0.68779	P	0.384	0.78936	B	0.000061	0.53742	D	0.165546	0.823402	0.28853	N	2.35	0.67516	M	0.85	0.47130	T	-0.72	0.20358	N	0.156	0.20395	-0.7102	0.59942	T	0.262	0.63274	T	10	0.008969128	0.00203	T	0.017652	0.39432	T	0.134	0.36365	.	.	0.250579442822	0.24687	0.12451235045586118	0.12377	0.374654094666	0.38927	0.327181398869	0.14508	T	0.034478	0.23338	T	-0.467585	0.00880	T	-0.441401	0.28651	T	0.042104994601202	0.04074	T	0.669433	0.27806	T	0.03777665	0.04907	0.06150169	0.11885	0.03777665	0.04906	0.06150169	0.11884	-3.749	0.20044	T	.	.	0.095	0.16973	B	.;.	.;.	0.013710	0.04377	1.129	0.82352979316055452	0.14148	0.12834	0.17507	N	AEFDBI	0.228540	0.35219	N	-0.104409101810001	0.37201	2.160904	-0.143588619193883	0.33655	1.927489	0.999370985513007	0.39355	0.706298	0.61202	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.38	4.47	0.53770	0.164000	0.16359	0.263000	0.16568	-0.812000	0.03057	0.000000	0.06391	0.009000	0.19889	0.043000	0.14563	0.0:0.8616:0.1384:0.0	15.602	0.76375	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	1987.83	33	chr1	32895376	.	C	T	1987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.097;DP=739;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.099;SOR=0.621	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1232	17	0	2	0
chr1	32898200	32898200	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329722:exon2:c.G136A:p.V46M,TMEM54:NM_001329723:exon2:c.G136A:p.V46M,TMEM54:NM_001329724:exon2:c.G136A:p.V46M,TMEM54:NM_001329725:exon2:c.G136A:p.V46M,TMEM54:NM_033504:exon2:c.G136A:p.V46M	.	422	1095	4	1	0	6	0.00273224	.	.	.	2358008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0131961994525	7.7e-05	0.000599042	0.0001	0	0	0.0005	0	6.004e-05	0	0.0006	0.0001358	21	154602	rs142601765	0.0001	0.0001	0.0001	0.0002	0.0027	0.0001	0.0001	0.0023	0.0021	5.977e-05	4.474e-05	0	0.0027	0	0.0012	3.06e-05	0.0001	0.0007	0.0001	0.0001	0.0001	0.0001	0.0015	6.508e-05	5.32e-05	0.0008	0.0006	4.814e-05	0	0	0	0.0015	0	0	1.47e-05	0	0.0010	0.034	0.44029	D	0.088	0.41913	T	0.854	0.50183	P	0.253	0.39112	B	0.000370	0.45194	D	0.227351	0.999646	0.20796	N	2.02	0.55341	M	0.63	0.53088	T	-1.56	0.39503	N	0.475	0.51048	-0.9291	0.44270	T	0.083	0.32585	T	10	0.04199493	0.02906	T	0.013196	0.32416	T	0.109	0.30843	.	.	0.394837016283	0.39092	0.640843585478312	0.64019	0.597807685971	0.54967	0.46915358305	0.34564	T	0.075358	0.35159	T	-0.389207	0.02722	T	-0.432682	0.29631	T	0.0688610529168114	0.08491	T	0.845515	0.53103	T	0.060089584	0.12289	0.0745315	0.16314	0.060089584	0.12288	0.0745315	0.16313	-6.348	0.49102	T	.	.	0.150	0.44630	B	.;.	.;.	3.064159	0.41164	21.3	0.94308827516490379	0.24624	0.25734	0.22787	N	AEFBI	0.130823	0.24952	N	-0.0478969573742127	0.39695	2.345157	-0.0673195028277106	0.36749	2.142727	0.999123822560023	0.38507	0.706298	0.61202	0	0.610034	0.51514	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.45	4.52	0.54797	0.710000	0.25421	1.120000	0.24235	0.599000	0.40250	0.710000	0.28722	0.552000	0.25473	0.019000	0.11356	0.1885:0.662:0.0:0.1496	4.896	0.13105	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	892.33	33	chr1	32898200	.	C	T	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=710;ExcessHet=0;FS=5.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.074;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr1	32942286	32942286	C	T	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon7:c.G1576A:p.G526S,RNF19B:NM_001300826:exon7:c.G1576A:p.G526S,RNF19B:NM_153341:exon7:c.G1579A:p.G527S	.	.	.	.	.	.	.	.	.	.	.	2395402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0203703033794	7.7e-05	0.000199681	9.071e-05	9.612e-05	0	0.0001	0	0.0001	0	0	0.00011	17	154602	rs201645488	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	0	0	0.0001	0	0	0.0004	0.0001	1.16e-05	6.567e-05	6.563e-05	6.426e-05	6.715e-05	8.821e-05	3.515e-05	2.615e-05	3.762e-05	2.575e-05	7.221e-05	0	6.541e-05	0	0	0	0	8.821e-05	0	0	0.453	0.09075	T	1.0	0.01155	T	0.816	0.45573	P	0.06	0.26717	B	0.000003	0.62929	D	0.000000	0.997359	0.43821	D	-0.9	0.01342	N	1.98	0.22067	T	0.26	0.04613	N	0.612	0.62866	-1.0784	0.07661	T	0.025	0.10910	T	10	0.11999062	0.22719	T	0.02037	0.42951	T	0.121	0.33580	.	.	0.102598925029	0.09809	0.5833845363346403	0.58267	0.982007380805	0.73772	0.597666323185	0.52576	T	0.055513	0.30028	T	-0.403864	0.02184	T	-0.5436	0.17945	T	0.0773770021980084	0.09647	T	0.90021	0.65300	D	0.14169976	0.32640	0.14071149	0.33533	0.14169976	0.32639	0.14071149	0.33532	-2.082	0.07901	T	.	.	0.126	0.26607	B	.;.;.	.;.;.	4.557103	0.71774	25.7	0.58110542363825368	0.05919	0.93217	0.57631	D	AEFDBI	0.394002	0.47143	N	-0.537959280218093	0.20862	1.103004	-0.403713767944246	0.24887	1.365433	0.999913092908299	0.45857	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.11	4.2	0.48814	3.388000	0.52247	7.653000	0.63809	-0.202000	0.08738	0.999000	0.42656	1.000000	0.68203	0.163000	0.20749	0.0:0.9268:0.0:0.0732	14.059	0.64313	546	0.72524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1581.33	35	chr1	32942286	.	C	T	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.376;SOR=0.69	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1338	18	0	1	0
chr1	32964396	32964396	G	A	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C290T:p.A97V,RNF19B:NM_001300826:exon1:c.C290T:p.A97V,RNF19B:NM_153341:exon1:c.C290T:p.A97V	.	472	1041	9	0	0	9	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.0115815	0.0097	0	0	0.0667	.	0	0.0417	0.0098	0.0007503	116	154602	rs368813522	0.0022	0.0020	0.0021	0.0023	0.0694	0.0021	0.0021	0.0667	0.0656	4.419e-05	0.0002	0.0028	0.0694	0.0021	0.0013	0.0002	0.0039	0.0051	0.0032	0.0033	0.0025	0.0039	0.0762	0.0030	0.0029	0.0699	0.0675	0	0	0.0002	0.0032	0.0762	0.0009	0	0.0004	0.0039	0.0065	0.301	0.15613	T	0.13	0.34716	T	0.174	0.28827	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	-0.49	0.16393	N	0.075	0.04913	-1.0053	0.28368	T	0.030	0.13023	T	9	0.0017747283	0.00023	T	.	.	.	0.038	0.09825	.	.	0.123314135267	0.11883	0.3987242596299398	0.39787	0.432816247524	0.43450	0.86762201786	0.92227	D	0.123703	0.44825	T	-0.685815	0.00044	T	-0.691958	0.06276	T	0.0108935615067181	0.00156	T	0.336266	0.08539	T	0.030421173	0.02704	0.041678023	0.04792	0.030421173	0.02703	0.041678023	0.04792	-5.973	0.46053	T	.	.	0.102	0.20274	B	.;.;.	.;.;.	1.327328	0.17323	13.09	0.96145430819206823	0.28850	0.10379	0.15902	N	AEFDBCIJ	0.049491	0.08555	N	-1.08968595201596	0.06831	0.3156419	-1.15201343682175	0.06731	0.3250254	0.999999022868977	0.74766	0.495885	0.18260	0	0.56911	0.20461	1	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.94	-0.228	0.12452	1.168000	0.31468	-1.289000	0.05805	0.223000	0.18093	0.003000	0.16062	0.003000	0.18671	0.112000	0.18829	0.1856:0.2853:0.5291:0.0	3.111	0.05976	542	0.72843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004854	0.007692	0.000000	0.000000	0.000000	0.000000	0.016667	0.000000	0.02632	405.34	28	chr1	32964396	.	G	A	405.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=379;ExcessHet=0;FS=3.799;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.312;SOR=0.223	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,465	18	0	1	0
chr1	33306846	33306846	G	C	exonic	A3GALT2	.	nonsynonymous SNV	A3GALT2:NM_001080438:exon5:c.C943G:p.P315A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0600559319312	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs769442505	2.951e-06	2.736e-06	1.458e-06	4.481e-06	3.751e-06	6.9e-07	4.7e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.751e-06	0	0	1.973e-05	1.97e-05	2.572e-05	1.346e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	.	.	.	0.718	0.05380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.19728	.	.	.	.	.	.	.	0.088591754	0.15269	T	0.060056	0.67872	D	.	.	.	.	0.303453137403	0.29957	0.19205103941977894	0.19123	1.47686996324	0.86643	0.600191295147	0.52931	T	0.005441	0.04891	T	-0.17077	0.25117	T	-0.483076	0.24120	T	.	.	.	0.484852	0.14769	T	0.04067571	0.05850	0.090509064	0.21229	0.04067571	0.05850	0.090509064	0.21229	-3.591	0.17727	T	.	.	0.073	0.04764	B	.	.	1.022939	0.14027	10.59	0.66112136584537451	0.07964	0.05052	0.10841	N	AEFDBI	0.055850	0.10278	N	.	.	.	.	.	.	0.998618643476303	0.37309	0.163419	0.03694	0	0.059962	0.00310	0	0.172434	0.04157	0	0.166187	0.04126	0	.	.	3.62	0.385	0.15471	0.370000	0.20166	2.913000	0.35519	0.614000	0.49286	0.005000	0.17040	0.954000	0.29108	0.242000	0.23054	0.1069:0.3554:0.3691:0.1687	2.747	0.04944	189	0.92630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	35	chr1	33306846	.	G	C	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.288;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.676;SOR=0.724	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1218	18	0	1	0
chr1	33541162	33541162	C	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_052896:exon58:c.G8993T:p.R2998L,CSMD2:NM_001281956:exon59:c.G9425T:p.R3142L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.058765451606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.038	0.53072	D	0.953	0.54283	P	0.866	0.61580	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.48	0.37141	L	-0.04	0.63240	T	-3.33	0.66206	D	0.694	0.76573	-0.3909	0.72313	T	0.346	0.71115	T	10	0.80928886	0.80231	D	0.058765	0.67431	D	0.354	0.67510	0.728	0.86198	0.732157991247	0.72977	0.709647157728719	0.70906	.	.	0.786902725697	0.79971	T	0.175676	0.52535	T	0.0959252	0.63848	D	-0.0999865	0.63398	T	0.988506436347961	0.78827	D	0.883312	0.81989	D	0.46464747	0.64960	0.34935662	0.60562	0.46464747	0.64961	0.34935662	0.60561	-6.849	0.52923	T	.	.	0.464	0.62874	A	.;.;.	.;.;.	3.401289	0.47136	22.4	0.99724220622975512	0.82266	0.98779	0.86744	D	AEFDBI	0.787044	0.71695	D	0.613380364723348	0.74021	6.062259	0.634783297416898	0.77482	6.687848	0.99999999994832	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	4.979000	0.63525	4.877000	0.45627	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.558	0.91046	416	0.81733	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	33	chr1	33541162	.	C	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.346;DP=715;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.565;SOR=0.862	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	33546069	33546069	C	T	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_052896:exon56:c.G8636A:p.G2879D,CSMD2:NM_001281956:exon57:c.G9068A:p.G3023D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	.	0.0002	0.00419329	0.0018	0.0005	0	0.0244	0	0	0	0	0.0016171	250	154602	rs139241751	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0133	0.0002	4.472e-05	0	0.0147	0	0	2.698e-06	0.0008	0.0001	0.0008	0.0008	0.0008	0.0008	0.0203	0.0007	0.0006	0.0171	0.0159	0.0003	0	0.0001	0	0.0203	0	0	1.47e-05	0.0005	0.0002	0.003	0.68238	D	0.002	0.79402	D	0.908	0.50127	P	0.938	0.67350	D	0.000177	0.48594	D	0.179885	0.999999	0.58761	D	3.405	0.91733	M	-0.67	0.72458	T	-6.08	0.89910	D	0.536	0.65245	0.184	0.85632	D	0.434	0.77504	T	10	0.009425193	0.00213	T	.	.	.	0.604	0.84398	.	.	0.722272604482	0.71982	0.7285506291944334	0.72799	.	.	0.672536253929	0.63199	T	0.303452	0.67580	T	-0.141206	0.29699	T	0.0460207	0.73321	D	0.129092347972699	0.15297	T	0.975036	0.91141	D	0.5989818	0.72637	0.53220123	0.72970	0.5989818	0.72638	0.53220123	0.72970	-12.88	0.88863	D	.	.	0.426	0.61004	A	.;.;.	.;.;.	4.470135	0.69653	25.4	0.99535084322348533	0.70150	0.95484	0.64904	D	AEFBI	0.728908	0.67678	D	0.585915551861429	0.72295	5.783258	0.444176717869365	0.64342	4.687385	0.999329003676801	0.39149	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	4.719000	0.61629	7.716000	0.67067	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:1.0:0.0:0.0	17.120	0.86576	416	0.81733	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1513.33	42	chr1	33546069	.	C	T	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=786;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-2.385;SOR=0.87	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	18	0	1	0
chr1	33600967	33600967	G	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon44:c.C6754T:p.R2252W,CSMD2:NM_052896:exon45:c.C6760T:p.R2254W	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0239016124758	0.0055	0.000599042	0.0042	0.0012	0.0006	0	0.0042	0.0065	0.0044	0.0018	0.0043208	668	154602	rs114879806	0.0058	0.0058	0.0059	0.0058	0.0069	0.0057	0.0057	0.0068	0.0068	0.0012	0.0006	0.0002	0	0.0049	0.0023	0.0069	0.0044	0.0020	0.0042	0.0041	0.0043	0.0040	0.0075	0.0039	0.0038	0.0070	0.0068	0.0014	0	0.0009	0	0	0.0032	0	0.0075	0.0024	0.0017	0.002	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.925	0.65999	D	0.000932	0.41028	D	0.206128	0.956343	0.26301	N	2.08	0.57402	M	2.26	0.17596	T	-1.82	0.46503	N	0.49	0.56489	-1.0859	0.06245	T	0.060	0.25163	T	10	0.01118052	0.00245	T	0.023902	0.46878	T	0.203	0.48915	.	.	0.468085328875	0.46433	0.5838479591863995	0.58313	.	.	0.387901186943	0.23374	T	0.088275	0.38124	T	-0.439554	0.01301	T	-0.391841	0.34337	T	0.02154751934512	0.00858	T	0.935506	0.79983	D	0.10672209	0.25235	0.11145735	0.26886	0.10672209	0.25235	0.11145735	0.26885	-8.054	0.64317	D	.	.	0.155	0.35931	B	.;.;.;.;.	.;.;.;.;.	3.702630	0.52811	23.3	0.99905365712701089	0.97651	0.88662	0.48696	D	AEFGBI	0.650136	0.62435	D	0.1706187858592	0.49791	3.175717	0.0461001586834716	0.41883	2.523815	0.123182889209089	0.16931	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	2.68	0.30839	2.705000	0.46795	2.502000	0.33033	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.249000	0.23237	0.0:0.2206:0.367:0.4124	8.710	0.33541	470	0.78111	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1179.33	33	chr1	33600967	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=742;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.442;SOR=0.886	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1336	18	0	1	0
chr1	33635271	33635271	G	T	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon31:c.C5029A:p.Q1677K,CSMD2:NM_052896:exon31:c.C4909A:p.Q1637K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00715055697772	7.7e-05	.	5.813e-05	0	0	0	0	7.555e-05	0	0.0001	4.53e-05	7	154602	rs143173205	3.559e-05	3.557e-05	3.814e-05	3.302e-05	0.0010	2.764e-05	2.503e-05	0.0005	0.0003	0.0004	0	0	0	0	0.0010	1.979e-05	0.0001	2.32e-05	3.311e-05	3.295e-05	3.881e-05	2.714e-05	4.434e-05	1.268e-05	8.03e-06	1.177e-05	6.26e-06	2.439e-05	0	0	0	0	0	0.0032	4.434e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.367	0.34030	B	0.14	0.33554	B	0.010795	0.29783	N	0.353536	1	0.81001	D	0.3	0.10203	N	2.37	0.15964	T	-0.21	0.10308	N	0.311	0.38643	-1.0526	0.13682	T	0.033	0.14377	T	10	0.15698138	0.29554	T	0.007151	0.18951	T	0.082	0.23913	.	.	0.345175991111	0.34120	0.5832887450189136	0.58257	.	.	0.579099595547	0.49959	T	0.023933	0.18182	T	-0.33057	0.06068	T	-0.532321	0.19055	T	0.0796196048701145	0.09938	T	0.763424	0.43725	T	0.26555943	0.49625	0.26125512	0.51900	0.26555943	0.49625	0.26125512	0.51899	-7.156	0.55939	T	.	.	0.072	0.04764	B	.;.;.;.	.;.;.;.	3.160007	0.42816	21.6	0.81692445232289723	0.13812	0.91058	0.52777	D	AEFBCI	0.532299	0.55222	D	0.0615328364827691	0.44674	2.73722	0.27099249919143	0.53852	3.552	0.999993231122637	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.89	5.89	0.94758	5.193000	0.64958	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.245	0.93885	489	0.76795	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002039	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3750.81	33	chr1	33635271	.	G	T	3750.81	.	AC=2;AF=0.053;AN=38;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.3;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	1	0	0
chr1	33725350	33725350	C	G	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon17:c.G2694C:p.E898D,CSMD2:NM_052896:exon17:c.G2574C:p.E858D	.	425	1087	10	0	0	10	0.00457875	0.0002	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.0415479197528	0.0061	0.00119808	0.0038	0.0011	0.0009	0	0.0003	0.0063	0.0033	0.0012	0.0040232	622	154602	rs61735686	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0006	0.0016	0.0038	0	0.0007	0.0017	0.0075	0.0057	0.0012	0.0036	0.0036	0.0041	0.0032	0.0065	0.0034	0.0033	0.0060	0.0058	0.0015	0	0.0013	0.0023	0	0.0007	0	0.0065	0.0038	0.0010	0.025	0.47320	D	0.004	0.74150	D	0.971	0.57185	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.99729	0.43775	D	0.93	0.23535	L	0.18	0.60361	T	-2.59	0.55821	D	0.868	0.86511	-0.8812	0.49665	T	0.172	0.51437	T	10	0.03079778	0.01208	T	0.041548	0.59986	D	0.380	0.69780	0.414	0.45216	0.493021045079	0.48934	0.41920477619135765	0.41836	.	.	0.697892963886	0.66840	T	0.050783	0.28695	T	-0.3	0.08660	T	-0.198579	0.54781	T	0.0300565867139397	0.01997	T	0.844715	0.52235	T	0.3322215	0.55652	0.24624981	0.50131	0.3322215	0.55652	0.24624981	0.50130	-7.786	0.61906	D	.	.	0.432	0.61285	A	.;.;.	.;.;.	3.035975	0.40681	21.2	0.99784639850381784	0.87131	0.90319	0.51400	D	AEFBI	0.521267	0.54577	D	-0.0302188169619208	0.40490	2.405477	-0.0734200195148169	0.36493	2.124482	0.00244880632794547	0.09436	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.45	0.363	0.15353	-0.004000	0.12813	0.626000	0.20179	-0.182000	0.10109	0.893000	0.31264	0.998000	0.33993	0.966000	0.53164	0.0:0.4925:0.0:0.5075	9.777	0.39796	514	0.74853	.;CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002575	0.000000	0.001359	0.006410	0.000000	0.000000	0.003125	0.000000	0.02632	651.33	33	chr1	33725350	.	C	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=655;ExcessHet=0;FS=2.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.183;SOR=0.379	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1333	171.76	77	chr1	33864375	.	G	C	171.76	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.921;DP=2276;ExcessHet=0.7564;FS=275.066;InbreedingCoeff=-0.1985;MLEAC=5;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.121;SOR=11.912	GT:AD:DP:GQ:PL	0/1:77,33:110:99:110,0,1682	11	0	4	4
chr1	33864536	33864536	C	A	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.C345A:p.N115K,HMGB4:NM_001352984:exon2:c.C123A:p.N41K,HMGB4:NM_145205:exon2:c.C345A:p.N115K	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0078	0.00698882	0.0094	0.0023	0.0032	0	0.0127	0.0119	0.0044	0.0122	0.0091137	1409	154602	rs61769874	0.0098	0.0098	0.0096	0.0099	0.0106	0.0096	0.0096	0.0104	0.0103	0.0015	0.0046	0.0092	2.519e-05	0.0093	0.0097	0.0105	0.0097	0.0106	0.0079	0.0079	0.0079	0.0080	0.0117	0.0076	0.0074	0.0110	0.0108	0.0020	0.0011	0.0071	0.0092	0	0.0116	0.0170	0.0117	0.0090	0.0087	0.027	0.46513	D	0.029	0.54541	D	.	.	.	.	.	.	0.000049	0.53742	D	0.118681	1	0.81001	D	3.01	0.86067	M	-4.9	0.98333	D	-3.41	0.67129	D	0.392	0.43320	0.818	0.94637	D	0.915	0.97197	D	10	0.0122460425	0.00264	T	.	.	.	0.621	0.85301	0.651	0.78858	0.909459114912	0.90855	0.22794373970563533	0.22709	0.0582104493871	0.06448	0.61914151907	0.55608	T	0.625388	0.88318	D	-0.302978	0.08382	T	-0.19566	0.55057	T	0.0551873799059558	0.06388	T	0.546045	0.18695	T	0.32978013	0.55453	0.29031798	0.55054	0.32978013	0.55453	0.29031798	0.55053	-4.847	0.35134	T	.	.	0.513	0.65167	A	.;.	.;.	1.936107	0.24588	16.45	0.99433507769984386	0.64374	0.30851	0.24188	N	AEFBI	0.152684	0.27740	N	-0.164568584820478	0.34616	1.978042	-0.339843534843139	0.26825	1.484254	0.304339413000223	0.19222	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-1.44	0.08391	-1.080000	0.03517	-2.560000	0.03608	-0.204000	0.08590	0.013000	0.18845	0.000000	0.08366	0.904000	0.43992	0.0:0.481:0.0:0.519	9.033	0.35431	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.014946	0.000000	0.000000	0.017241	0.009146	0.015152	0.02632	2408.33	49	chr1	33864536	.	C	A	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=1004;ExcessHet=0;FS=1.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.938;SOR=0.762	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	34197583	34197583	C	A	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon2:c.C679A:p.R227S,C1orf94:NM_032884:exon2:c.C109A:p.R37S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00588625092613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.12187	T	0.325	0.18846	T	0.01	0.15535	B	0.027	0.21085	B	0.600777	0.10960	N	0.796164	1	0.08975	N	0.895	0.22405	L	2.05	0.20664	T	-0.51	0.15986	N	0.1	0.08227	-0.9936	0.31670	T	0.034	0.14726	T	10	0.0664728	0.09122	T	0.005886	0.15310	T	0.017	0.02790	0.201	0.11522	0.221019684889	0.21715	0.07757229221595306	0.07693	0.038680676858	0.04113	.	.	.	0.003886	0.03292	T	-0.27599	0.11097	T	-0.634217	0.10097	T	0.0388216638700326	0.03479	T	0.342266	0.07430	T	0.06863334	0.14967	0.0407893	0.04489	0.06863334	0.14967	0.0407893	0.04489	-2.195	0.04994	T	.	.	0.158	0.35034	B	.;.	.;.	-0.182471	0.03181	0.522	0.9462432071644622	0.25205	0.01792	0.05602	N	AEFDBI	0.065889	0.12874	N	-0.914391860417981	0.10505	0.5023107	-0.919997211765697	0.11623	0.5932474	0.335357170490513	0.19528	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.98	1.86	0.24489	-0.112000	0.10762	-0.158000	0.11351	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2993:0.5542:0.1464:0.0	8.205	0.30612	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1854.33	169	chr1	34197583	.	C	A	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=1719;ExcessHet=0;FS=1.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.401;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	18	0	1	0
chr1	34757760	34757760	G	A	exonic	GJB5	.	nonsynonymous SNV	GJB5:NM_005268:exon2:c.G430A:p.A144T	.	166	1355	1	0	0	1	0.000368868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0871089989508	.	0.000998403	0.0002	0.0005	0	0	0	4.504e-05	0	0.0011	0.0002005	31	154602	rs184440385	8.004e-05	8.003e-05	5.581e-05	0.0001	0.0009	6.801e-05	6.355e-05	0.0008	0.0007	0.0006	0	0	0	5.628e-05	0	8.993e-06	6.623e-05	0.0009	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0.0007	0	0	0	0	9.459e-05	0	1.471e-05	0	0.0015	0.417	0.09927	T	0.316	0.19362	T	0.007	0.14184	B	0.003	0.08700	B	0.734790	0.09825	N	0.892782	1	0.08975	N	0.82	0.20857	L	-3.82	0.95761	D	-0.72	0.20358	N	0.049	0.02088	-0.4541	0.70264	T	0.691	0.89327	D	10	0.026305467	0.00800	T	0.087109	0.74870	D	0.256	0.56694	.	.	0.517709844387	0.51413	0.6588218637646434	0.65819	0.121191469137	0.13650	0.263433635235	0.05306	T	0.490715	0.81539	T	-0.312933	0.07493	T	-0.262816	0.48543	T	0.00757902408451085	0.00088	T	0.159784	0.01435	T	0.04244413	0.06437	0.08256342	0.18852	0.04244413	0.06436	0.08256342	0.18852	-4.578	0.31894	T	.	.	0.069	0.02993	B	.	.	1.115538	0.15011	11.51	0.87629365474475451	0.17365	0.05555	0.11452	N	AEFBI	0.072487	0.14468	N	-1.39936930833923	0.02645	0.1170754	-1.47916667185635	0.02516	0.1158229	0.999997813965024	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.89	-6.65	0.01630	-0.219000	0.09233	-0.998000	0.06656	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.153000	0.20410	0.6081:0.0:0.3919:0.0	15.907	0.79222	910	0.22284	Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3392.33	33	chr1	34757760	.	G	A	3392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=894;ExcessHet=0;FS=5.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.288;SOR=0.433	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr1	34904518	34904518	A	G	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon3:c.T866C:p.L289P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0117384771228	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476436871	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.279	0.21745	T	0.976	0.58310	D	0.454	0.46241	P	0.002023	0.37411	N	0.225081	0.999648	0.48019	D	-0.46	0.02758	N	1.7	0.26885	T	-1.09	0.28290	N	0.501	0.53357	-1.0697	0.09479	T	0.039	0.16720	T	10	0.27593318	0.45154	T	0.011738	0.29664	T	0.089	0.25827	0.418	0.45873	0.338449385132	0.33456	0.3248692378308054	0.32399	1.4171152166	0.85547	0.782598495483	0.79320	T	0.186637	0.53999	T	-0.114446	0.34035	T	-0.305316	0.44159	T	0.521301436974325	0.33413	D	0.557244	0.19380	T	0.36240822	0.58019	0.30812934	0.56832	0.36240822	0.58019	0.30812934	0.56831	-2.482	0.05660	T	.	.	0.072	0.04477	B	.;.	.;.	3.459489	0.48208	22.6	0.99571984211089315	0.72440	0.89241	0.49588	D	AEFBI	0.500851	0.53394	D	0.16054859040743	0.49312	3.133065	0.262242807899625	0.53348	3.504289	0.010861745728636	0.12094	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	2.510000	0.45129	8.135000	0.76666	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.039	0.71434	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1165.33	37	chr1	34904518	.	A	G	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=786;ExcessHet=0;FS=6.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.136;SOR=1.016	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	0	1	0
chr1	34904549	34904549	G	T	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon3:c.C835A:p.P279T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00576784151772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.796	0.04117	T	0.213	0.30041	B	0.067	0.27542	B	0.004858	0.33331	N	0.201353	0.982045	0.24993	N	1.15	0.29295	L	1.83	0.24841	T	-0.85	0.23156	N	0.37	0.41162	-1.0565	0.12646	T	0.048	0.20553	T	10	0.13090485	0.24913	T	0.005768	0.14982	T	0.025	0.05312	0.371	0.38176	0.279809986126	0.27602	0.23995267391212202	0.23909	0.882173084537	0.69812	0.547115266323	0.45450	T	0.140768	0.47548	T	-0.16657	0.25755	T	-0.477043	0.24761	T	0.225882172584534	0.21754	T	0.765923	0.39354	T	0.118631914	0.27946	0.10431707	0.25051	0.118631914	0.27946	0.10431707	0.25050	-5.689	0.43596	T	.	.	0.069	0.03093	B	.;.	.;.	2.323066	0.29746	18.22	0.84187887245070192	0.15147	0.93607	0.58681	D	AEFBI	0.416638	0.48501	N	-0.147103633311609	0.35358	2.029898	-0.0155600894333745	0.39012	2.306727	0.00406606597333247	0.10401	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.02	2.96	0.33383	3.845000	0.55590	6.669000	0.56273	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2732:0.7268:0.0	14.838	0.69826	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	167	chr1	34904549	.	G	T	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.403;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	0	1	0
chr1	35114549	35114549	G	A	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.G2494A:p.V832I,ZMYM1:NM_001289089:exon10:c.G2662A:p.V888I,ZMYM1:NM_024772:exon10:c.G2719A:p.V907I,ZMYM1:NM_001289088:exon11:c.G2719A:p.V907I,ZMYM1:NM_001289090:exon11:c.G2719A:p.V907I,ZMYM1:NM_001289091:exon11:c.G1639A:p.V547I	.	455	1066	1	0	0	1	0.000468823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00566718286559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005014934	1.029e-05	1.026e-05	8.187e-06	1.241e-05	6e-05	6.18e-06	4.9e-06	9.94e-06	3.89e-06	6e-05	0	0	2.525e-05	0	0	9.906e-06	0	1.169e-05	5.26e-05	5.254e-05	3.856e-05	6.73e-05	0.0002	2.558e-05	1.831e-05	3.25e-05	1.915e-05	9.653e-05	0	0	0	0.0002	0	0	4.413e-05	0	0	0.212	0.19500	T	0.314	0.19480	T	0.003	0.11197	B	0.001	0.04355	B	0.294221	0.03914	N	1.531840	0.999998	0.08975	N	1.01	0.25309	L	1.9	0.23486	T	-0.29	0.11728	N	0.036	0.01203	-1.0127	0.26070	T	0.033	0.14247	T	9	0.029463947	0.01073	T	0.005667	0.14681	T	0.012	0.01476	0.319	0.29741	0.0401082797425	0.02173	0.040881615567085826	0.04033	0.127677448216	0.14390	0.30205732584	0.10708	T	0.002865	0.02258	T	-0.467705	0.00879	T	-0.737144	0.04012	T	0.052282128483057	0.05896	T	0.467453	0.13767	T	0.02810516	0.02097	0.03572496	0.02878	0.02810516	0.02097	0.03572496	0.02878	-3.601	0.17871	T	.	.	0.065	0.02091	B	.;.;.;.	.;.;.;.	0.242004	0.06222	2.673	0.55473132173801809	0.05349	0.03869	0.09232	N	AEFGBI	0.035786	0.04663	N	-1.01932077326099	0.08203	0.3838047	-0.99219059716536	0.09959	0.4986504	0.36885737074988	0.19850	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.755437	0.99637	0	.	.	4.74	1.67	0.23149	-0.572000	0.05973	0.220000	0.16063	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.3483:0.0:0.6517:0.0	6.662	0.22213	886	0.28090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	818.33	34	chr1	35114549	.	G	A	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.396;DP=706;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.203;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1193	18	0	1	0
chr1	35114882	35114882	A	G	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.A2827G:p.K943E,ZMYM1:NM_001289089:exon10:c.A2995G:p.K999E,ZMYM1:NM_024772:exon10:c.A3052G:p.K1018E,ZMYM1:NM_001289088:exon11:c.A3052G:p.K1018E,ZMYM1:NM_001289090:exon11:c.A3052G:p.K1018E,ZMYM1:NM_001289091:exon11:c.A1972G:p.K658E	.	.	.	.	.	.	.	.	.	.	.	3634300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0145323836706	0.0003	0.000199681	4.986e-05	0.0001	0	0	0	7.513e-05	0	0	4.53e-05	7	154602	rs201597322	5.638e-05	5.609e-05	6.419e-05	4.847e-05	0.0002	4.633e-05	4.258e-05	5.646e-05	5.217e-05	3.012e-05	2.273e-05	0	0	0	0.0002	6.953e-05	1.665e-05	1.175e-05	3.938e-05	3.937e-05	5.139e-05	2.684e-05	8.82e-05	1.714e-05	1.128e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.049	0.39820	D	0.32	0.19131	T	0.798	0.44840	P	0.3	0.41053	B	0.003704	0.34585	N	0.131910	0.949775	0.26526	N	0.895	0.22405	L	2.47	0.14783	T	-0.84	0.22944	N	0.317	0.35727	-1.1040	0.03640	T	0.056	0.23488	T	9	0.10571444	0.19555	T	0.014532	0.34707	T	0.043	0.11576	.	.	0.141422826196	0.13715	0.20449192966427623	0.20366	0.438700815686	0.43897	0.550615906715	0.45944	T	0.006745	0.06169	T	-0.361509	0.04045	T	-0.52039	0.20254	T	0.0687751949719565	0.08478	T	0.761624	0.38671	T	0.16046257	0.35988	0.19411898	0.43018	0.16046257	0.35988	0.19411898	0.43017	-4.227	0.27141	T	.	.	0.105	0.19194	B	.;.;.;.	.;.;.;.	3.534099	0.49602	22.8	0.99750648662494712	0.84228	0.65600	0.32792	D	AEGBI	0.133870	0.25368	N	-0.0479707727875421	0.39693	2.34491	-0.0685844339998552	0.36697	2.138957	0.921132624932967	0.26660	0.653281	0.48532	0	0.588066	0.40923	0	0.670488	0.60580	0	0.669	0.65921	0	.	.	4.45	3.31	0.37025	1.302000	0.33063	3.778000	0.39779	0.691000	0.84096	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.8267:0.1733:0.0:0.0	9.811	0.39990	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	37	chr1	35114882	.	A	G	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.518;SOR=0.695	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1193	18	0	1	0
chr1	35594455	35594455	C	T	exonic	TFAP2E	.	nonsynonymous SNV	TFAP2E:NM_178548:exon7:c.C1108T:p.R370C	.	195	1325	1	0	1	2	0.000377216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.358459053137	.	0.000399361	0.0004	0.0003	0.0002	0.0001	0	0.0001	0.0011	0.0018	0.0003299	51	154602	rs201962301	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.961e-05	0.0001	0	0.0001	0	0.0012	0.0001	0.0002	0.0018	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	7.216e-05	0	0.0008	0	0	0	0	0.0002	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.861	0.61279	P	0.000001	0.84330	D	0.055742	1	0.81001	D	3.25	0.89816	M	-4.29	0.97149	D	-7.57	0.95246	D	0.408	0.44857	1.066	0.98474	D	0.939	0.97992	D	10	0.104647726	0.19304	T	0.358459	0.92450	D	0.793	0.93188	.	.	0.772693829412	0.77061	0.7074969346365836	0.70691	1.32069806668	0.83445	0.700944066048	0.67279	T	0.910566	0.98313	D	-0.0119018	0.50000	T	0.185	0.82311	D	0.220805936026846	0.21504	T	0.928707	0.73770	D	0.82431316	0.85512	0.7128137	0.83054	0.82431316	0.85513	0.7128137	0.83055	-11.675	0.83232	D	.	.	0.233	0.46631	B	.	.	4.882570	0.80089	27.2	0.99903641516754227	0.97502	0.91016	0.52696	D	AEFDBHCI	0.589254	0.58620	D	0.531531835489743	0.68965	5.290373	0.47010125922354	0.66018	4.897723	0.862875542250043	0.25260	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.64	3.72	0.41857	4.987000	0.63585	1.767000	0.28601	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.8108:0.1225:0.0667	11.775	0.51249	373	0.84140	Transcription factor AP-2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1524.33	36	chr1	35594455	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=734;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.082;SOR=0.998	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1364	18	0	1	0
chr1	35746946	35746946	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2482A:p.P828T,CLSPN:NM_001330490:exon15:c.C2674A:p.P892T,CLSPN:NM_022111:exon15:c.C2674A:p.P892T	.	423	1088	11	0	0	11	0.00502972	.	.	.	2812640	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0050	0.00319489	0.0070	0.0015	0.0015	0	0.0249	0.0078	0.0066	0.0072	0.00652	1008	154602	rs34390044	0.0075	0.0076	0.0075	0.0075	0.0076	0.0074	0.0074	0.0074	0.0073	0.0011	0.0022	0.0089	5.038e-05	0.0233	0.0055	0.0075	0.0064	0.0076	0.0061	0.0061	0.0054	0.0069	0.0072	0.0058	0.0057	0.0067	0.0065	0.0013	0	0.0034	0.0063	0.0002	0.0253	0.0034	0.0072	0.0038	0.0071	0.566	0.17701	T	0.542	0.17115	T	0.702	0.49920	P	0.255	0.43123	B	0.001616	0.38497	N	0.258410	0.953803	0.26391	N	0.805	0.20218	L	1.95	0.22474	T	-0.71	0.21644	N	0.09	0.16168	-1.0691	0.09612	T	0.031	0.13504	T	10	0.0031296313	0.00052	T	.	.	.	0.129	0.35316	.	.	0.283272178027	0.27931	0.08917626161197725	0.08850	0.0946549095088	0.10693	0.401993572712	0.25347	T	0.011224	0.10044	T	-0.627674	0.00099	T	-0.667848	0.07748	T	0.0100410057950306	0.00134	T	0.724128	0.33984	T	0.027350277	0.01914	0.03263188	0.02028	0.027350277	0.01913	0.03263188	0.02028	-4.882	0.35532	T	.	.	0.094	0.16010	B	.;.;.;.	.;.;.;.	2.293634	0.29342	18.09	0.74403057931608052	0.10682	0.84467	0.43549	D	AEFDBI	0.133752	0.25352	N	-0.20038606787033	0.33118	1.875356	-0.132766046936924	0.34077	1.956287	0.589848798722657	0.21638	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.99	2.9	0.32809	2.366000	0.43858	5.607000	0.49043	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0598:0.0982:0.6383:0.2037	8.665	0.33278	207	0.91931	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.02632	2551.33	35	chr1	35746946	.	G	T	2551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.411;DP=829;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.101;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr1	36087257	36087257	G	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon7:c.G801T:p.K267N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.00359425	0.0012	0.0002	8.66e-05	0.0160	0	0	0.0011	6.057e-05	0.0011449	177	154602	rs142743253	0.0004	0.0004	0.0004	0.0004	0.0123	0.0004	0.0004	0.0114	0.0110	5.974e-05	8.944e-05	0	0.0123	0	0	8.993e-06	0.0012	0.0003	0.0007	0.0007	0.0006	0.0007	0.0160	0.0006	0.0005	0.0132	0.0122	7.214e-05	0	0.0008	0	0.0160	0	0	1.47e-05	0.0009	0.0008	0.267	0.16198	T	0.208	0.26883	T	0.985	0.61118	D	0.732	0.55359	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.43	0.35840	L	4.2	0.02689	T	-3.43	0.67359	D	0.837	0.83269	-0.8374	0.52819	T	0.011	0.04274	T	10	0.014988542	0.00315	T	.	.	.	0.167	0.42761	0.53	0.63707	0.146414634003	0.14194	0.7749512484723448	0.77445	0.437007265989	0.43776	0.584931492805	0.50781	T	0.242045	0.61070	T	-0.540981	0.00330	T	-0.536232	0.18668	T	0.0549278974980987	0.06346	T	0.846115	0.52582	T	0.6611847	0.75962	0.5653674	0.74844	0.6611847	0.75963	0.5653674	0.74844	-4.923	0.35993	T	.	.	0.676	0.71965	P	.	.	3.483717	0.48658	22.7	0.99773203191080362	0.86088	0.93189	0.57558	D	AEFDBHCIJ	0.548362	0.56168	D	0.323715778067004	0.57369	3.903854	0.346026184395238	0.58269	3.996464	0.99999999999821	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.49	4.58	0.56077	2.674000	0.46532	4.000000	0.41065	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1416:0.0:0.8584:0.0	12.266	0.53993	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2270.83	36	chr1	36087257	.	G	T	2270.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=791;ExcessHet=0.119;FS=3.295;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.732;SOR=0.802	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1107,0,1469	17	0	2	0
chr1	36099320	36099320	G	A	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.C166T:p.R56W,COL8A2:NM_005202:exon4:c.C361T:p.R121W	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	2	1519	1	0	0	1	0.000329056	.	.	.	3856512	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.415	0.255311484584	.	0.000199681	0.0016	0	0	0.0096	0	0.0019	0	0	0.0003493	54	154602	rs201383455	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0019	0	0	0.0051	0.0024	2.073e-05	0	3.642e-05	0.0003	3.656e-05	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	1.476e-05	0	0	0.021	0.49117	D	0.104	0.38160	T	0.997	0.70673	D	0.875	0.62107	P	0.000005	0.62929	D	0.061282	0.92121	0.36683	D	0.55	0.14455	N	-2.89	0.91696	D	-0.97	0.25770	N	0.271	0.31140	0.370	0.88639	D	0.708	0.89944	D	10	0.007383734	0.00168	T	0.255311	0.89286	D	0.415	0.72555	0.494	0.58206	0.454402166774	0.45062	0.3874453968155254	0.38659	0.315069041011	0.33789	0.708464801311	0.68372	T	0.178078	0.52859	T	-0.312217	0.07554	T	-0.222728	0.52473	T	0.0913014857089934	0.11372	T	0.59824	0.38410	T	0.09066944	0.21222	0.07229294	0.15581	0.104539156	0.24713	0.0828098	0.18928	-8.26	0.62828	D	.	.	0.192	0.43448	B	.;.;.	.;.;.	3.542896	0.49765	22.8	0.99086312414442612	0.52100	0.67205	0.33349	D	AEFDBCI	0.699697	0.65696	D	0.22882124971645	0.52600	3.433176	0.190297427493165	0.49315	3.136089	0.999991743748032	0.74766	0.533608	0.22052	0	0.547309	0.14657	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	4.57	2.47	0.29113	1.715000	0.37591	1.810000	0.28954	-0.179000	0.10443	0.701000	0.28635	0.974000	0.29927	0.986000	0.61781	0.0:0.2736:0.3399:0.3866	6.206	0.19817	183	0.92871	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	315.33	28	chr1	36099320	.	G	A	315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=614;ExcessHet=0;FS=4.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.072;SOR=0.399	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,787	18	0	1	0
chr1	36100236	36100236	C	T	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_005202:exon3:c.G7A:p.G3R	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	0	1493	28	1	0	30	0.00994695	.	.	.	1550119	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.298	.	0.0032	0.00219649	0.007	0.0012	0.0035	0	0.0073	0.0099	0.0152	0.0057	0.0029495	456	154602	rs115156902	0.0055	0.0054	0.0054	0.0056	0.0061	0.0054	0.0054	0.0060	0.0059	0.0007	0.0021	0.0049	0	0.0039	0.0060	0.0061	0.0052	0.0050	0.0034	0.0034	0.0038	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0013	0	0.0035	0.0063	0.0002	0.0024	0.0068	0.0049	0.0057	0.0046	0.0	0.91255	D	0.048	0.48594	D	0.077	0.24313	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	1.39	0.34934	L	-3.08	0.92560	D	-2.47	0.53898	N	0.233	0.26233	-0.2288	0.76919	T	0.483	0.80285	T	9	0.007133037	0.00162	T	.	.	.	0.298	0.61843	0.09	0.01023	0.573349579966	0.57003	0.671669233633394	0.67104	0.361323223472	0.37790	0.452545940876	0.32292	T	0.134602	0.46595	T	-0.230093	0.16636	T	-0.0953277	0.63757	T	0.0558326456528416	0.06496	T	0.315368	0.06236	T	0.21383123	0.43773	0.3183397	0.57803	0.22951621	0.45690	0.41117516	0.65356	-3.454	0.15794	T	.	.	0.156	0.34514	B	.;.	.;.	1.936650	0.24595	16.46	0.99387951809272912	0.62202	0.79450	0.39371	D	ALL	0.286864	0.39915	N	-0.470565837871518	0.23049	1.23502	-0.38407193466779	0.25471	1.400964	0.999999999997474	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.599892	0.37169	0	.	.	4.61	2.66	0.30672	2.152000	0.41897	0.830000	0.21939	0.549000	0.26987	0.999000	0.42656	0.998000	0.33993	0.086000	0.17578	0.3491:0.6509:0.0:0.0	10.610	0.44603	184	0.92813	.;.	C1orf216	Muscle_Skeletal	AGO4	Testis	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006129	0.005155	0.005450	0.009091	0.000000	0.017857	0.000000	0.007576	0.05263	1297.83	28	chr1	36100236	.	C	T	1297.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.888;DP=566;ExcessHet=0.119;FS=4.661;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.881;SOR=0.314	GT:AD:DP:GQ:PL	0/0:24,0:24:63:0,63,945	17	0	2	0
chr1	36289439	36289439	C	G	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.C1420G:p.L474V,THRAP3:NM_005119:exon5:c.C1420G:p.L474V,THRAP3:NM_001321471:exon6:c.C1420G:p.L474V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0002	0.00738818	0.0036	9.701e-05	0.0003	0.0286	0.0030	0.0006	0.0055	0.0073	0.0032665	505	154602	rs141254021	0.0013	0.0013	0.0012	0.0015	0.0221	0.0013	0.0013	0.0209	0.0204	0	0.0001	0	0.0221	0.0029	0.0009	0.0002	0.0033	0.0060	0.0018	0.0018	0.0016	0.0019	0.0303	0.0016	0.0015	0.0264	0.0250	2.406e-05	0	0.0007	0	0.0303	0.0031	0	0.0004	0.0014	0.0075	0.128	0.26965	T	0.411	0.14500	T	0.208	0.29916	B	0.038	0.23361	B	0.002133	0.37183	N	0.117273	0.920201	0.27311	N	0.975	0.24501	L	2.53	0.14038	T	-0.63	0.18459	N	0.062	0.03392	-1.0232	0.22671	T	0.010	0.03627	T	10	0.0028965771	0.00046	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	0.07963694209993348	0.07898	0.549413493553	0.51842	0.458045750856	0.33042	T	0.075636	0.35226	T	-0.605741	0.00134	T	-0.619196	0.11248	T	0.00787267258821726	0.00093	T	0.779122	0.41282	T	0.04611462	0.07664	0.05954125	0.11192	0.04611462	0.07664	0.05954125	0.11192	-3.979	0.23488	T	.	.	0.070	0.04847	B	.;.;.	.;.;.	1.756194	0.22343	15.58	0.87604087547775589	0.17347	0.29328	0.23792	N	AEFBI	0.050624	0.08867	N	-0.383333571066914	0.26063	1.419534	-0.264072447133023	0.29291	1.639862	0.200446079190616	0.18116	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	2.68	0.30839	0.591000	0.23670	1.638000	0.27776	0.599000	0.40250	0.933000	0.32380	1.000000	0.68203	0.998000	0.85391	0.0:0.5188:0.2448:0.2364	5.948	0.18468	128	0.94857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1037.33	36	chr1	36289439	.	C	G	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.732;DP=698;ExcessHet=0;FS=8.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.27;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1433	18	0	1	0
chr1	36308160	36308160	C	G	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.C257G:p.P86R,SH3D21:NM_001162530:exon8:c.C590G:p.P197R	.	414	1079	27	2	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00993666005988	0.0057	0.00199681	0.0052	0.0005	0.0025	0	0.0054	0.0059	0.0055	0.0065	0.0013389	207	154602	rs76695875	0.0046	0.0044	0.0044	0.0047	0.0067	0.0045	0.0044	0.0057	0.0055	0.0004	0.0014	0.0068	2.798e-05	0.0022	0.0067	0.0049	0.0046	0.0062	0.0029	0.0029	0.0033	0.0025	0.0058	0.0027	0.0026	0.0041	0.0037	0.0011	0	0.0018	0.0084	0.0002	0.0015	0.0034	0.0042	0.0033	0.0058	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.854	0.60866	P	0.146926	0.18097	U	0.509628	1	0.81001	D	.	.	.	2.9	0.10101	T	-3.83	0.72120	D	0.582	0.61002	-1.0868	0.06084	T	0.050	0.21182	T	10	0.009480596	0.00214	T	0.009937	0.25878	T	0.156	0.40720	.	.	0.539478914628	0.53600	0.48378686536910653	0.48298	0.405877712896	0.41475	0.518329381943	0.41391	T	.	.	.	-0.344608	0.05075	T	-0.266691	0.48154	T	0.0124233849397936	0.00204	T	0.933007	0.75759	D	.	.	.	.	.	.	.	.	-9.139	0.68587	D	.	.	0.228	0.46049	B	.;.	.;.	4.039143	0.59786	24.1	0.99840426847059882	0.92057	0.78089	0.38476	D	AEFDBI	0.163636	0.28993	N	0.524277252940655	0.68531	5.229837	0.501612177123755	0.68099	5.173562	0.999998091427557	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	1.910000	0.39557	6.002000	0.52504	0.596000	0.33519	0.959000	0.33545	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003333	0.005319	0.000000	0.004167	0.000000	0.000000	0.000000	0.010638	0.05263	1557.83	34	chr1	36308160	.	C	G	1557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=898;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.402;SOR=0.61	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,109,1716	17	0	2	0
chr1	37689694	37689694	G	T	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.C373A:p.L125I,C1orf109:NM_001303031:exon2:c.C376A:p.L126I,C1orf109:NM_001350755:exon2:c.C376A:p.L126I,C1orf109:NM_001350756:exon2:c.C373A:p.L125I,C1orf109:NM_001350760:exon2:c.C187A:p.L63I,C1orf109:NM_001350761:exon2:c.C187A:p.L63I,C1orf109:NM_001350764:exon2:c.C187A:p.L63I,C1orf109:NM_001350769:exon2:c.C187A:p.L63I,C1orf109:NM_001350770:exon2:c.C187A:p.L63I,C1orf109:NM_001350771:exon2:c.C187A:p.L63I,C1orf109:NM_017850:exon2:c.C187A:p.L63I,C1orf109:NM_001350757:exon3:c.C376A:p.L126I,C1orf109:NM_001350759:exon3:c.C373A:p.L125I,C1orf109:NM_001350766:exon3:c.C187A:p.L63I,C1orf109:NM_001350768:exon3:c.C187A:p.L63I,C1orf109:NM_001350758:exon4:c.C373A:p.L125I,C1orf109:NM_001350762:exon4:c.C187A:p.L63I,C1orf109:NM_001350763:exon4:c.C187A:p.L63I,C1orf109:NM_001350765:exon4:c.C187A:p.L63I,C1orf109:NM_001350767:exon4:c.C187A:p.L63I	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.014531740578	0.0009	0.00199681	0.0020	9.72e-05	0.0004	0	0.0009	0.0012	0.0011	0.0090	0.0017335	268	154602	rs145196420	0.0012	0.0012	0.0009	0.0015	0.0093	0.0012	0.0011	0.0087	0.0085	8.962e-05	0.0004	0.0005	0	0.0005	0.0029	0.0007	0.0012	0.0093	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0001	0	0.0003	0.0003	0	0.0018	0	0.0009	0.0014	0.0087	0.012	0.54683	D	0.023	0.57104	D	1.0	0.90584	D	0.988	0.77976	D	0.000012	0.62929	N	0.116284	0.994932	0.42476	D	2.89	0.83701	M	.	.	.	-1.43	0.35194	N	0.5	0.53269	0.024	0.82723	D	0.515	0.81850	D	9	0.0071386695	0.00162	T	0.014532	0.34707	T	0.149	0.39377	.	.	0.328222422547	0.32431	0.30546283441545663	0.30459	1.197488769	0.80448	.	.	.	0.103677	0.48692	T	-0.171793	0.24963	T	-0.0122967	0.69534	D	0.0818137000941954	0.10218	T	0.777022	0.40965	T	0.27409002	0.50476	0.1920946	0.42704	0.27409002	0.50475	0.1920946	0.42703	-4.661	0.32929	T	.	.	0.204	0.48968	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.857460	0.79449	27.1	0.99190539962035773	0.54965	0.89046	0.49281	D	ALL	0.542961	0.55848	D	0.54221507741215	0.69608	5.381381	0.429792933178142	0.63429	4.576486	1.0	0.98316	0.660085	0.49399	0	0.516746	0.08562	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.96	5.96	0.96695	4.938000	0.63220	11.872000	0.98601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.0:0.0:1.0:0.0	19.193	0.93663	880	0.29376	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.015152	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	756.33	42	chr1	37689694	.	G	T	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=724;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-2.923;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	37689816	37689816	T	C	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.A251G:p.E84G,C1orf109:NM_001303031:exon2:c.A254G:p.E85G,C1orf109:NM_001350755:exon2:c.A254G:p.E85G,C1orf109:NM_001350756:exon2:c.A251G:p.E84G,C1orf109:NM_001350760:exon2:c.A65G:p.E22G,C1orf109:NM_001350761:exon2:c.A65G:p.E22G,C1orf109:NM_001350764:exon2:c.A65G:p.E22G,C1orf109:NM_001350769:exon2:c.A65G:p.E22G,C1orf109:NM_001350770:exon2:c.A65G:p.E22G,C1orf109:NM_001350771:exon2:c.A65G:p.E22G,C1orf109:NM_017850:exon2:c.A65G:p.E22G,C1orf109:NM_001350757:exon3:c.A254G:p.E85G,C1orf109:NM_001350759:exon3:c.A251G:p.E84G,C1orf109:NM_001350766:exon3:c.A65G:p.E22G,C1orf109:NM_001350768:exon3:c.A65G:p.E22G,C1orf109:NM_001350758:exon4:c.A251G:p.E84G,C1orf109:NM_001350762:exon4:c.A65G:p.E22G,C1orf109:NM_001350763:exon4:c.A65G:p.E22G,C1orf109:NM_001350765:exon4:c.A65G:p.E22G,C1orf109:NM_001350767:exon4:c.A65G:p.E22G	.	426	1085	11	0	0	11	0.00504356	.	.	.	2251460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00375101218661	0.0005	0.000599042	0.0006	0.0014	0.0011	0	0	0.0004	0.0012	0.0010	0.0005498	85	154602	rs148859861	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0.0008	3.837e-05	0	0.0002	0.0005	0.0004	0.0005	0.0010	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0003	0	0	0.0006	0.0068	0.0004	0.0005	0.0008	0.005	0.63226	D	0.008	0.69154	D	0.51	0.37313	P	0.295	0.40843	B	0.079175	0.21000	N	0.534882	0.994911	0.23414	N	2.62	0.76659	M	.	.	.	-4.02	0.74269	D	0.246	0.27792	-0.9949	0.31326	T	0.112	0.40122	T	9	0.019885123	0.00450	T	0.003751	0.08713	T	0.065	0.18881	.	.	0.482357354261	0.47867	0.24656529055381673	0.24570	0.446814636077	0.44548	.	.	.	0.249044	0.61893	T	-0.389662	0.02704	T	-0.373032	0.36533	T	0.0370971271246813	0.03172	T	0.705629	0.33902	T	0.2671308	0.49784	0.33372772	0.59206	0.2671308	0.49784	0.33372772	0.59206	-5.023	0.37089	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.055667	0.41018	21.3	0.99824226208270916	0.90677	0.55033	0.29763	D	ALL	0.176235	0.30344	N	-0.0177359974260688	0.41053	2.448763	-0.025940280019742	0.38547	2.273	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.241949	0.04745	2	.	.	5.34	2.92	0.32998	0.488000	0.22080	1.543000	0.27241	0.665000	0.62972	0.099000	0.22773	0.967000	0.29559	0.930000	0.46718	0.0:0.0:0.2904:0.7096	11.314	0.48617	880	0.29376	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	626.33	42	chr1	37689816	.	T	C	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.609;DP=707;ExcessHet=0;FS=2.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.42;SOR=1.144	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	37727166	37727166	C	T	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon8:c.G1708A:p.V570I	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00610799606418	8e-05	.	0.0003	0	8.717e-05	0.0001	0	0.0004	0.0012	0.0002	0.0002975	46	154602	rs200982956	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	2.246e-05	0	0	0.0002	0.0003	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	6.535e-05	0	0	0.0006	0.0034	0.0004	0	0.0004	0.537	0.09958	T	0.644	0.34124	T	0.011	0.15914	B	0.005	0.11217	B	0.001567	0.38612	N	0.000000	0.998582	0.22057	N	0.575	0.15311	N	2.9	0.10101	T	-0.38	0.13418	N	0.142	0.14196	-0.9938	0.31617	T	0.020	0.08500	T	10	0.07197809	0.10683	T	0.006108	0.15993	T	0.014	0.01968	.	.	0.341696514166	0.33777	0.448496441275503	0.44767	0.0901717964492	0.10168	0.415615171194	0.27233	T	0.00637	0.05804	T	-0.517031	0.00458	T	-0.658489	0.08369	T	0.0124352651515167	0.00204	T	0.708229	0.31875	T	0.06178388	0.12834	0.06495167	0.13095	0.06178388	0.12833	0.06495167	0.13095	-4.399	0.29544	T	.	.	0.098	0.18539	B	.;.;.	.;.;.	3.145310	0.42554	21.6	0.97645758596437127	0.35108	0.67181	0.33340	D	AEFDBI	0.129164	0.24723	N	-0.363897837231957	0.26765	1.463222	-0.222265834056156	0.30739	1.733414	0.12022562071644	0.16863	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.75	2.7	0.31007	2.185000	0.42215	4.796000	0.44934	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.998000	0.85391	0.0:0.8023:0.0:0.1977	9.067	0.35632	869	0.31655	Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	905.33	33	chr1	37727166	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=702;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.663;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	18	0	1	0
chr1	37943826	37943826	G	T	exonic	INPP5B	.	nonsynonymous SNV	INPP5B:NM_001365820:exon4:c.C220A:p.P74T,INPP5B:NM_001365821:exon4:c.C220A:p.P74T,INPP5B:NM_005540:exon4:c.C220A:p.P74T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.222855144846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.92359	D	0.000004	0.62929	D	0.000000	0.808655	0.46462	D	.	.	.	-4.9	0.98487	D	-4.25	0.93950	D	0.744	0.77789	1.091	0.99263	D	0.953	0.98473	D	10	0.8439462	0.83556	D	0.222855	0.87874	D	0.818	0.94162	0.564	0.68499	0.980218949975	0.98000	0.7696804676577202	0.76917	0.837987452663	0.67897	0.577914774418	0.49792	T	0.255378	0.84336	T	0.257331	0.79283	D	0.131861	0.79014	D	0.995504677295685	0.87546	D	0.857914	0.54791	D	0.6713874	0.76507	0.65381396	0.79736	0.6713874	0.76508	0.65381396	0.79737	-6.43	0.49744	T	.	.	0.333	0.68838	B	.;.;.;.;.	.;.;.;.;.	4.182393	0.62975	24.5	0.99776033952442544	0.86346	0.95056	0.63277	D	AEFDBI	0.659981	0.63071	D	0.708341295880938	0.80178	7.237332	0.676133211555559	0.80570	7.328363	0.99999999972808	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.17	5.17	0.70848	5.718000	0.68103	11.697000	0.94442	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.515	0.67401	691	0.58815	INPP5B, PH domain|INPP5B, PH domain;INPP5B, PH domain|INPP5B, PH domain;INPP5B, PH domain|INPP5B, PH domain;.;INPP5B, PH domain|INPP5B, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr1	37943826	.	G	T	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.718;DP=775;ExcessHet=0;FS=2.949;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.09;SOR=0.479	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	18	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V,SF3A3:NM_006802:exon14:c.C1195G:p.L399V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	114.79	73	chr1	37969440	.	G	C	114.79	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.033;DP=1553;ExcessHet=0.3672;FS=233.351;InbreedingCoeff=-0.1431;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=0.301;SOR=11.486	GT:AD:DP:GQ:PL	0/1:63,30:93:31:31,0,1394	13	0	3	3
chr1	37997843	37997843	G	A	exonic	FHL3	.	nonsynonymous SNV	FHL3:NM_001243878:exon4:c.C205T:p.R69C,FHL3:NM_004468:exon5:c.C529T:p.R177C	.	.	.	.	.	.	.	.	.	.	.	3669495	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.781	0.254358850376	.	.	4.946e-05	9.617e-05	0	0	0	4.499e-05	0.0011	6.061e-05	3.88e-05	6	154602	rs746206991	2.942e-05	2.941e-05	2.995e-05	2.888e-05	0.0002	2.217e-05	1.97e-05	2.54e-05	2.224e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.418e-05	1.656e-05	1.159e-05	7.231e-05	7.224e-05	7.711e-05	6.728e-05	0.0001	3.973e-05	3.129e-05	6.287e-05	4.302e-05	0.0001	0	0	0	0	0	0	5.88e-05	0.0005	0	0.11	0.29158	T	0.034	0.52727	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.29	0.32370	L	-2.33	0.87910	D	-5.73	0.87611	D	0.828	0.82358	0.541	0.91115	D	0.757	0.91713	D	10	0.8838726	0.87707	D	0.254359	0.89248	D	0.781	0.92705	0.641	0.77795	0.886106578519	0.88498	0.7309389947855427	0.73038	1.22561102355	0.81198	0.799701333046	0.81917	T	0.468357	0.80232	T	0.255973	0.79158	D	0.321593	0.89159	D	0.636680364608765	0.37897	D	0.994076	0.98035	D	0.5025392	0.67244	0.441441	0.67428	0.5025392	0.67245	0.441441	0.67428	-8.976	0.67542	D	.	.	0.318	0.54346	B	.	.	6.020609	0.94361	34	0.99935012660891231	0.99579	0.97165	0.73072	D	AEFBCI	0.770696	0.70556	D	0.604145252968907	0.73436	5.965861	0.587958210580484	0.74074	6.075817	1.0	0.98316	0.722319	0.85440	0	0.709663	0.81188	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	5.423000	0.66197	11.893000	0.99147	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.679	0.91501	426	0.81110	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1984.33	45	chr1	37997843	.	G	A	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=941;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.714;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	18	0	1	0
chr1	37999018	37999018	G	A	exonic	FHL3	.	nonsynonymous SNV	FHL3:NM_004468:exon3:c.C287T:p.A96V	.	422	1089	10	1	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0569501063576	0.0011	0.00199681	0.0014	0.0016	0.0022	0.0001	0	0.0013	0.0022	0.0019	0.0013583	210	154602	rs142528167	0.0011	0.0011	0.0011	0.0012	0.0158	0.0011	0.0010	0.0132	0.0122	0.0022	0.0026	0.0104	7.557e-05	1.872e-05	0.0158	0.0007	0.0029	0.0019	0.0017	0.0017	0.0018	0.0016	0.0035	0.0015	0.0015	0.0028	0.0025	0.0020	0	0.0035	0.0095	0	9.411e-05	0.0170	0.0009	0.0057	0.0021	0.009	0.57480	D	0.178	0.29639	T	0.963	0.55692	D	0.509	0.47904	P	0.000001	0.62929	D	0.054211	0.980475	0.39670	D	0.44	0.12706	N	-2.16	0.86549	D	-1.41	0.34795	N	0.421	0.46086	-0.0346	0.81534	T	0.396	0.74836	T	10	0.009702295	0.00218	T	0.05695	0.66792	D	0.398	0.71242	.	.	0.605614257927	0.60245	0.2373837562881642	0.23653	0.648602540398	0.58205	0.498093008995	0.38562	T	0.153562	0.49447	T	-0.294919	0.09148	T	-0.201645	0.54490	T	0.0215018403423202	0.00854	T	0.927007	0.73102	D	0.16931902	0.37440	0.18630698	0.41795	0.16931902	0.37440	0.18630698	0.41794	-4.804	0.34638	T	.	.	0.127	0.27131	B	.	.	4.599013	0.72823	25.9	0.99883402034992352	0.95892	0.85747	0.44914	D	AEFDGBCI	0.703013	0.65919	D	0.368319727938868	0.59713	4.153065	0.456148019507363	0.65112	4.782846	0.999999999978224	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.94	5.94	0.96165	5.867000	0.69350	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.7396:0.2604	13.273	0.59605	423	0.81269	Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.070707	0.029891	0.020468	0.050000	0.017241	0.009146	0.000000	0.02632	1796.33	43	chr1	37999018	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.673;SOR=0.651	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	532.47	67	chr1	38018559	.	G	C	532.47	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.46;DP=1141;ExcessHet=0.119;FS=189.283;InbreedingCoeff=-0.1256;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=2.31;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:59,0:59:0:.:.:0,0,1031:.	13	0	2	4
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	492.29	39	chr1	38018560	.	AGGGT	A	492.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=1311;ExcessHet=0;FS=83.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=2.03;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	18	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	495.29	39	chr1	38018564	.	T	TCCCC	495.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=835;ExcessHet=0;FS=85.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=2.17;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	18	0	1	0
chr1	38874793	38874793	C	G	exonic	GJA9	.	nonsynonymous SNV	GJA9:NM_030772:exon2:c.G1306C:p.G436R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0619743541198	.	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs533049322	8.893e-06	8.893e-06	8.167e-06	9.625e-06	0.0001	4.96e-06	3.82e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.413	0.10052	T	0.345	0.17750	T	0.0	0.02946	B	0.001	0.04355	B	0.000003	0.00162	U	663.147000	1	0.08975	N	0.49	0.13296	N	-4.68	0.97989	D	-1.91	0.44471	N	0.117	0.12055	0.191	0.85758	D	0.794	0.93011	D	10	0.03518778	0.01756	T	0.061974	0.68504	D	0.280	0.59740	0.174	0.08014	0.208000267992	0.20380	0.11133286454895883	0.11062	0.0829428156774	0.09358	0.240979105234	0.02879	T	0.020	0.16069	T	-0.173707	0.24676	T	-0.305767	0.44113	T	0.036332765701379	0.03039	T	0.423358	0.11306	T	0.089105316	0.20808	0.0909616	0.21359	0.089105316	0.20808	0.0909616	0.21359	-2.998	0.10159	T	.	.	0.093	0.15788	B	.;.	.;.	0.296623	0.06725	3.236	0.75424704364813988	0.11070	0.17793	0.19990	N	AEFDGBCI	0.114913	0.22616	N	-1.17151415274143	0.05435	0.2477692	-1.20635748501796	0.05807	0.2777391	0.999904631890418	0.45458	0.554377	0.28877	0	0.475579	0.06741	0	0.491513	0.07944	0	0.567892	0.33627	0	.	.	3.92	-0.584	0.11115	1.854000	0.39008	-1.090000	0.06362	-0.187000	0.09635	0.003000	0.16062	0.000000	0.08366	0.029000	0.12982	0.0:0.4101:0.1617:0.4282	4.567	0.11586	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1247.33	115	chr1	38874793	.	C	G	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=1049;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.045;SOR=0.698	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	39322623	39322623	C	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon31:c.C4060A:p.L1354M	.	430	1082	10	0	0	10	0.00459982	.	.	.	971333	Spectraplakinopathy_type_I|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.074181002059	0.0008	0.000199681	0.0011	0.0005	0.0017	0	0.0008	0.0013	0	0.0012	0.0010931	169	154602	rs141025026	0.0011	0.0011	0.0011	0.0012	0.0031	0.0011	0.0011	0.0020	0.0017	0.0003	0.0014	0.0012	0	0.0005	0.0031	0.0012	0.0011	0.0014	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	0.0002	0	0.0017	0.0014	0	0.0005	0.0034	0.0011	0.0033	0.0004	0.015	0.65419	D	0.078	0.65728	T	0.999	0.77913	D	0.965	0.71173	D	.	.	.	.	0.997146	0.54805	D	.	.	.	-0.43	0.71425	T	-1.13	0.33798	N	0.553	0.57860	-0.1046	0.79993	T	0.501	0.81134	D	9	0.03752166	0.02111	T	0.074181	0.71977	D	0.234	0.53644	.	.	0.676492767695	0.67374	0.24167956163382087	0.24081	.	.	0.780992388725	0.79077	T	0.082777	0.53003	T	-0.143071	0.29403	T	-0.00836763	0.69790	D	0.0589111484587193	0.06996	T	0.928807	0.74741	D	0.28034267	0.51082	0.20437068	0.44558	0.28034267	0.51081	0.20437068	0.44557	-9.351	0.72827	D	.	.	0.212	0.46214	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447765	0.47999	22.5	0.99688708648307756	0.79775	0.96524	0.69570	D	AEFGBCI	0.534732	0.55365	D	0.496658169237262	0.66893	5.009675	0.561872396246422	0.72228	5.776739	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.206000	0.42416	0.609000	0.20011	0.599000	0.40250	1.000000	0.71638	0.094000	0.22579	0.997000	0.79791	0.0:1.0:0.0:0.0	20.478	0.99191	560	0.71333	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1793.33	178	chr1	39322623	.	C	A	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=798;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.009;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	18	0	1	0
chr1	39412157	39412157	T	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.T1892C:p.L631S	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.0576272532833	0.0022	0.00199681	0.0029	0.0008	0.0017	0	0.0006	0.0025	0.0011	0.0090	0.002639	408	154602	rs113364091	0.0028	0.0028	0.0025	0.0031	0.0094	0.0027	0.0027	0.0088	0.0086	0.0005	0.0020	7.652e-05	0	0.0004	0.0035	0.0027	0.0027	0.0094	0.0021	0.0021	0.0021	0.0020	0.0083	0.0019	0.0018	0.0063	0.0055	0.0004	0	0.0033	0	0	0.0008	0.0034	0.0028	0.0028	0.0083	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.41	0.45047	0.115	0.84445	D	0.558	0.83882	D	9	0.007884145	0.00179	T	0.057627	0.67031	D	0.461	0.75822	.	.	0.528307593906	0.52478	.	.	0.0629486593884	0.07010	0.334619313478	0.15630	T	0.043712	0.26588	T	-0.277049	0.10984	T	-0.163774	0.58010	T	0.0289628606000123	0.01832	T	0.39496	0.09912	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.56317	A	.;.	.;.	2.042221	0.25957	16.95	0.99467993543323463	0.66154	0.33335	0.24803	N	AEFDBHC	0.155766	0.28101	N	0.216726812222285	0.52010	3.37799	0.185874103341695	0.49071	3.114918	0.999995946612645	0.74766	0.722319	0.85440	0	0.289287	0.05216	2	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.41	4.21	0.48984	2.157000	0.41946	4.211000	0.42532	0.665000	0.62972	0.963000	0.33788	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1915:0.8085	8.736	0.33691	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.008621	0.003049	0.015152	0.02632	1092.33	37	chr1	39412157	.	T	C	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.222;DP=726;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.16;SOR=0.857	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr1	39414347	39414347	A	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A4082C:p.E1361A	.	425	1084	13	0	0	13	0.00596057	.	.	.	2812693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0058	0.00339457	0.0042	0.0015	0.0024	0	0.0040	0.0059	0.0068	0.0022	0.0041461	641	154602	rs78342613	0.0062	0.0062	0.0064	0.0060	0.0071	0.0061	0.0061	0.0070	0.0069	0.0011	0.0030	0.0024	5.038e-05	0.0057	0.0028	0.0071	0.0069	0.0023	0.0041	0.0041	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0029	0.0029	0	0.0040	0.0034	0.0067	0.0047	0.0014	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.114	0.10198	-1.0975	0.04407	T	0.049	0.20829	T	9	0.0047133863	0.00099	T	.	.	.	0.048	0.13305	.	.	0.316310170894	0.31242	.	.	0.0512310808619	0.05634	0.300970971584	0.10545	T	0.056866	0.30407	T	-0.408392	0.02037	T	-0.356652	0.38440	T	0.0143324613209288	0.00286	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.;.	.;.	1.452021	0.18731	13.90	0.98207659076379761	0.39184	0.36571	0.25563	N	AEFDBCI	0.104875	0.20972	N	-0.00264177093971106	0.41737	2.501784	-0.0253563651691214	0.38574	2.274527	0.999999942115561	0.74766	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.13	4.13	0.47661	0.321000	0.19306	3.674000	0.39446	0.535000	0.24933	0.222000	0.24557	0.999000	0.35428	0.776000	0.36750	1.0:0.0:0.0:0.0	9.871	0.40343	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1217.33	38	chr1	39414347	.	A	C	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.608;DP=781;ExcessHet=0;FS=2.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.528;SOR=0.481	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	39437792	39437792	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon66:c.G11827A:p.E3943K	.	433	1088	1	0	0	1	0.000459348	.	.	.	1398596	Inborn_genetic_diseases|Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.372	0.0304345626432	0.0005	.	0.0005	9.61e-05	0	0	0.0002	0.0007	0	0.0005	0.000401	62	154602	rs201968058	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	2.989e-05	6.708e-05	0	0	0.0001	0	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0005	0.0004	9.626e-05	0	6.536e-05	0	0	9.423e-05	0	0.0006	0	0.0010	0.01	0.57480	D	0.006	0.70582	D	0.991	0.64070	D	0.876	0.62173	P	0.000008	0.62929	D	0.000000	0.999992	0.81001	D	.	.	.	0.61	0.53516	T	-3.33	0.66549	D	0.646	0.67650	-0.6149	0.64200	T	0.262	0.63264	T	10	0.34994727	0.51877	T	0.030435	0.52748	D	0.372	0.69102	.	.	0.501033390876	0.49739	0.5348645961659292	0.53411	.	.	0.7106808424	0.68692	T	0.155111	0.83264	T	-0.141788	0.29607	T	-0.0594772	0.66369	T	0.258826943975446	0.23264	T	0.985001	0.94937	D	0.45659584	0.64459	0.37379238	0.62559	0.45659584	0.64459	0.37379238	0.62559	-1.292	0.01499	T	.	.	0.169	0.37235	B	.;.;.;.;.	.;.;.;.;.	4.581745	0.72389	25.8	0.99894503319072492	0.96742	0.99848	0.99820	D	AEFBI	0.908458	0.86380	D	0.810471693331544	0.86757	8.988981	0.82612876596749	0.91548	10.94298	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	10.003000	0.99689	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.717	0.96119	779	0.47767	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1168.33	35	chr1	39437792	.	G	A	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.508;DP=778;ExcessHet=0;FS=5.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.521;SOR=1.176	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr1	39492025	39492025	G	A	exonic	BMP8A	.	nonsynonymous SNV	BMP8A:NM_181809:exon1:c.G34A:p.G12S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.656188739897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.701e-06	6.586e-06	1.308e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.043	0.41364	D	0.13	0.34716	T	0.816	0.45573	P	0.227	0.38084	B	0.816208	0.09213	U	0.878189	0.92712	0.27152	N	0.97	0.24054	L	-0.86	0.74477	T	-1.17	0.29933	N	0.448	0.48596	-0.9480	0.41313	T	0.183	0.53179	T	9	0.50068676	0.61530	D	0.656189	0.97102	D	0.192	0.47115	0.29	0.25081	0.824745103265	0.82308	0.5200325448103265	0.51926	1.48240043888	0.86736	0.876004219055	0.93415	D	0.10797	0.42061	T	-0.0720115	0.41005	T	-0.341216	0.40205	T	0.289742482562874	0.24579	T	0.608239	0.22965	T	0.12359168	0.29018	0.18099938	0.40935	0.12359168	0.29018	0.18099938	0.40935	-4.846	0.35123	T	.	.	0.217	0.44694	B	.	.	2.741396	0.35911	20.1	0.84782669585835002	0.15495	0.65711	0.32829	D	AEFBCI	0.243474	0.36475	N	-0.229984844844981	0.31909	1.794032	-0.185314555162299	0.32074	1.821297	0.999965907412973	0.48965	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.68	3.68	0.41359	3.665000	0.54270	3.683000	0.39473	0.484000	0.22197	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	13.223	0.59327	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	222.33	24	chr1	39492025	.	G	A	222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=514;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.49;SOR=1.085	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,113,1326	18	0	1	0
chr1	39492274	39492274	G	A	exonic	BMP8A	.	nonsynonymous SNV	BMP8A:NM_181809:exon1:c.G283A:p.A95T	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0986531707345	0.0001	0.000998403	0.0014	0.0002	0.0004	0	0.0002	0.0012	0.0015	0.0044	0.0009832	152	154602	rs200655657	0.0008	0.0008	0.0006	0.0010	0.0044	0.0007	0.0007	0.0040	0.0039	0	0.0003	0	0	0.0002	0.0004	0.0006	0.0004	0.0044	0.0006	0.0006	0.0006	0.0007	0.0052	0.0005	0.0005	0.0036	0.0031	9.623e-05	0	0.0002	0	0	9.439e-05	0	0.0009	0	0.0052	0.577	0.06049	T	0.523	0.10354	T	0.445	0.35971	B	0.192	0.36449	B	0.000004	0.62929	U	0.062767	1	0.08975	N	1.245	0.31408	L	-0.15	0.65192	T	-0.7	0.19933	N	0.048	0.01999	-0.9909	0.32373	T	0.115	0.40875	T	9	0.0055470765	0.00123	T	0.098653	0.76978	D	0.077	0.22490	.	.	0.250039746154	0.24611	0.2126605217189457	0.21182	1.87457451814	0.92549	0.784617960453	0.79625	T	0.066272	0.32904	T	-0.593627	0.00159	T	-0.625625	0.10748	T	0.00990797452730018	0.00131	T	0.29797	0.05545	T	0.058461156	0.11763	0.10907799	0.26284	0.058461156	0.11763	0.10907799	0.26283	-6.455	0.49938	T	.	.	0.073	0.04723	B	.	.	1.357816	0.17661	13.30	0.95171454012810597	0.26329	0.06843	0.12868	N	AEFDBCI	0.052350	0.09336	N	-1.20408269779089	0.04940	0.2240497	-1.33768082793524	0.03953	0.1854718	0.999985100272497	0.51787	0.59774	0.34471	0	0.491552	0.07993	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.37	-3.17	0.04882	0.286000	0.18660	0.179000	0.15609	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.0:0.233:0.4775:0.2896	6.507	0.21399	697	0.58201	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1900.33	58	chr1	39492274	.	G	A	1900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=1037;ExcessHet=0;FS=4.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=0.107;QD=11.88;ReadPosRankSum=-0.669;SOR=0.408	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	39762564	39762564	C	A	exonic	PPIE	.	nonsynonymous SNV	PPIE:NM_001195007:exon10:c.C885A:p.N295K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00127766643086	.	0.000199681	0.0001	0	0.0040	0	0	0.0002	0	0	1.94e-05	3	154602	rs562516798	5.508e-05	5.336e-05	5.081e-05	5.946e-05	0.0012	4.473e-05	4.133e-05	0.0009	0.0008	0	0	7.943e-05	0.0012	0	0	1.576e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0001	0.0023	6.506e-05	5.318e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	4.411e-05	0.0005	0	0.02	0.49613	D	0.756	0.04703	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.1	0.08283	T	0.1	0.05810	N	0.15	0.15328	-0.9614	0.38916	T	0.012	0.04795	T	9	0.009309471	0.00210	T	0.001278	0.01759	T	0.024	0.04979	0.455	0.51938	0.243187853663	0.23924	0.36295485141563344	0.36209	0.550695722903	0.51928	0.305660367012	0.11252	T	.	.	.	-0.687959	0.00043	T	-0.774212	0.02632	T	0.0146769757465272	0.00304	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	-2.336	0.04756	T	.	.	0.108	0.20391	B	.	.	0.624266	0.09926	6.685	0.49588523475857527	0.04236	0.04103	0.09571	N	AEFBI	0.036163	0.04774	N	-1.14995987016419	0.05780	0.264405	-1.2563008867082	0.05038	0.2391271	9.39473591946399E-5	0.04910	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	0.844	-0.287	0.12222	0.079000	0.14636	-1.064000	0.06442	0.507000	0.23093	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.5917:0.4083:0.0	4.65	0.11976	69	0.97055	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr1	39762564	.	C	A	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=-2.31;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	18	0	1	0
chr1	40089411	40089411	G	A	exonic	PPT1	.	nonsynonymous SNV	PPT1:NM_001142604:exon2:c.C226T:p.R76C,PPT1:NM_000310:exon5:c.C535T:p.R179C,PPT1:NM_001363695:exon5:c.C535T:p.R179C	Ceroid lipofuscinosis, neuronal, 1, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.0012	0.052	YES	201112	Inborn_genetic_diseases|not_specified|not_provided|Neuronal_ceroid_lipofuscinosis_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	0.115381275146	.	0.000199681	0.0004	0	8.64e-05	0	0	2.997e-05	0.0011	0.0028	0.0003363	52	154602	rs560471003	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	8.971e-05	2.236e-05	0	0	0	0.0003	3.331e-05	0.0003	0.0026	9.211e-05	9.194e-05	3.859e-05	0.0001	0.0019	5.534e-05	4.37e-05	0.0010	0.0007	4.824e-05	0	0	0	0	0	0	4.412e-05	0	0.0019	0.105	0.29823	T	0.114	0.36765	T	0.004	0.27501	B	0.013	0.23361	B	0.000044	0.53742	N	0.161600	0.998451	0.48716	D	2.775	0.80997	M	-4.47	0.97583	D	-2.06	0.47175	N	0.401	0.44187	0.445	0.89763	D	0.831	0.94334	D	10	0.034352362	0.01641	T	0.115381	0.79455	D	0.476	0.76816	0.728	0.86198	0.924967611476	0.92420	0.40286737174546733	0.40202	0.169627693308	0.19127	0.321532934904	0.13654	T	0.915705	0.98450	D	-0.169241	0.25350	T	-0.0211165	0.68956	D	0.133909633272528	0.15738	T	0.925307	0.74113	D	0.20373228	0.42461	0.122635044	0.29579	0.22203802	0.44794	0.14668322	0.34740	-7.481	0.63344	T	.	.	0.211	0.46859	B	.;.;.;.;.;.	.;.;.;.;.;.	3.623372	0.51284	23.1	0.98835853143225871	0.47035	0.97596	0.75790	D	AEFGBI	0.741440	0.68537	D	-0.0665121054854407	0.38867	2.283142	0.0182757777617196	0.40565	2.422851	0.80652638986651	0.24279	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.91	0.32903	4.986000	0.63577	4.352000	0.43091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.1733:0.1617:0.6649:0.0	5.764	0.17482	349	0.85513	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1404.33	42	chr1	40089411	.	G	A	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=804;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.313;SOR=1.044	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	40301270	40301270	G	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon32:c.C1982T:p.P661L	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	193939	not_specified|Connective_tissue_disorder|not_provided|Epiphyseal_dysplasia,_multiple,_2	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.730	0.565682286064	0.0034	0.000599042	0.0024	0.0011	0.0007	0	0.0005	0.0039	0	0.0006	0.0023609	365	154602	rs150687987	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0006	0.0030	0	0.0004	0.0003	0.0034	0.0023	0.0005	0.0023	0.0023	0.0024	0.0022	0.0035	0.0021	0.0020	0.0031	0.0030	0.0008	0.0639	0.0005	0.0035	0	9.411e-05	0	0.0035	0.0014	0.0002	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-3.32	0.93882	D	-4.37	0.77061	D	0.339	0.38027	0.997	0.97143	D	0.908	0.96936	D	10	0.017576963	0.00376	T	0.565682	0.96053	D	0.730	0.90545	.	.	0.95128258595	0.95076	0.5017662040250916	0.50098	0.935818021224	0.72008	0.743655860424	0.73510	T	0.596956	0.87026	D	-0.0790749	0.39866	T	0.115557	0.77939	D	0.0517575774758437	0.05805	T	0.913509	0.69206	D	0.31050313	0.53829	0.29547164	0.55579	0.31050313	0.53829	0.29547164	0.55578	-9.068	0.68134	D	.	.	0.114	0.22644	B	.	.	4.643768	0.73957	26.1	0.99910239545599777	0.97949	0.98833	0.87455	D	AEFDBI	0.821675	0.74218	D	0.843979606255816	0.88762	9.702135	0.780573391282847	0.88412	9.572106	0.999999997851169	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.6	5.6	0.84997	5.266000	0.65339	9.768000	0.81541	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.091	0.86497	443	0.79878	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	494.33	35	chr1	40301270	.	G	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.3;DP=673;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.15;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	18	0	1	0
chr1	40315652	40315652	C	T	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon2:c.G88A:p.G30R	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	864382	Epiphyseal_dysplasia,_multiple,_2|not_provided	MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.296	0.492644435496	.	0.000798722	0.0005	0	0	0.0028	0	0	0	0.0009	0.0001164	18	154602	rs193238892	8.635e-05	9.029e-05	7.466e-05	9.835e-05	0.0019	7.374e-05	6.904e-05	0.0015	0.0014	0	0	0	0.0019	0	0.0002	9.261e-07	0.0002	0.0005	5.909e-05	5.905e-05	3.855e-05	8.054e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.106414	0.999899	0.50595	D	4.36	0.98503	H	-5.77	0.99345	D	-5.41	0.96191	D	0.768	0.76573	0.832	0.94800	D	0.981	0.99421	D	10	0.39637804	0.55256	T	0.492644	0.95024	D	0.883	0.96576	0.494	0.58206	0.952629067819	0.95213	0.9100984180028403	0.90983	0.308530585448	0.33167	0.928664326668	0.98910	D	0.594742	0.86925	D	0.119891	0.66360	D	0.320177	0.89098	D	0.824615180492401	0.48118	D	0.967253	0.88140	D	0.7771808	0.82481	0.78027993	0.87046	0.7771808	0.82482	0.78027993	0.87047	-12.469	0.87060	D	.	.	0.701	0.81990	P	.;.	.;.	5.040781	0.83904	28.2	0.99809410888314665	0.89353	0.78006	0.38424	D	AEFDBHCI	0.820912	0.74159	D	0.93581331116815	0.93401	12.01492	0.830612077662137	0.91833	11.09286	0.999999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	5.27	5.27	0.73797	4.841000	0.62523	7.461000	0.59055	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	14.375	0.66432	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000522	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	1036.83	34	chr1	40315652	.	C	T	1036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=689;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.299;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	17	0	2	0
chr1	40784316	40784316	G	A	exonic	KCNQ4	.	nonsynonymous SNV	KCNQ4:NM_004700:exon1:c.G223A:p.A75T,KCNQ4:NM_172163:exon1:c.G223A:p.A75T	Deafness, autosomal dominant 2A, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	1917457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.409	0.963712075536	.	.	0.0002	0	0	0	0.0017	0.0003	0.0016	0	0.0001423	22	154602	rs775367552	7.633e-05	7.798e-05	8.215e-05	7.046e-05	3.872e-05	6.457e-05	6.036e-05	2.917e-05	2.593e-05	0	2.245e-05	0	2.528e-05	0.0011	0	3.872e-05	0.0002	1.161e-05	0.0001	0.0001	0.0001	0.0001	0.0004	6.524e-05	5.333e-05	6.899e-05	2.884e-05	0	0	0	0	0.0004	0.0010	0	5.897e-05	0	0	0.065	0.40573	T	0.456	0.12740	T	0.793	0.44725	P	0.207	0.37187	B	0.000043	0.53742	U	0.000000	0.988769	0.40824	D	1.39	0.34934	L	-5.2	0.98852	D	-0.51	0.15986	N	0.107	0.12770	0.562	0.91399	D	0.797	0.93114	D	10	0.11134869	0.20846	T	0.963712	0.99767	D	0.409	0.72099	0.227	0.15257	0.718871984191	0.71639	0.44290984932753147	0.44207	1.18988157068	0.80255	0.93302077055	0.99149	D	0.217586	0.58007	T	-0.147719	0.28669	T	-0.201655	0.54488	T	0.065343193410337	0.07982	T	0.714629	0.32694	T	0.12672128	0.29674	0.07932401	0.17847	0.12672128	0.29673	0.07932401	0.17846	-5.011	0.37452	T	0.12020135751014885	0.11280	0.088	0.11510	B	.;.;.	.;.;.	4.262293	0.64784	24.7	0.99608880392007293	0.74694	0.85147	0.44256	D	AEFDBHCI	0.610698	0.59942	D	-0.146345026840222	0.35390	2.032156	-0.0977518615324067	0.35483	2.053408	0.999999912345626	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.29	2.29	0.27658	2.256000	0.42886	5.281000	0.48180	0.503000	0.22915	0.989000	0.36753	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.7011:0.2989	6.209	0.19831	730	0.54327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1251.33	33	chr1	40784316	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-2.964;SOR=0.784	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr1	41017856	41017856	A	G	exonic	SLFNL1	.	nonsynonymous SNV	SLFNL1:NM_001377532:exon2:c.T736C:p.Y246H,SLFNL1:NM_144990:exon3:c.T736C:p.Y246H,SLFNL1:NM_001168247:exon4:c.T736C:p.Y246H,SLFNL1:NM_001300859:exon4:c.T559C:p.Y187H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0140003824864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000031	0.55875	D	0.000000	0.891976	0.35973	D	3.12	0.87914	M	1.44	0.32722	T	-4.53	0.78976	D	0.812	0.82660	-0.6791	0.61414	T	0.178	0.52303	T	10	0.889616	0.88301	D	0.014	0.33816	T	0.311	0.63269	0.756	0.88567	0.223146558224	0.21909	0.8178825998930872	0.81745	0.371378250836	0.38636	0.744432866573	0.73625	T	0.105089	0.41524	T	0.148335	0.69113	D	-0.024703	0.68720	D	0.99433559179306	0.85562	D	0.810819	0.48098	T	0.40010822	0.60740	0.479108	0.69829	0.40010822	0.60740	0.479108	0.69829	-9.453	0.70566	D	.	.	0.950	0.88586	P	.;.;.;.;.	.;.;.;.;.	4.460877	0.69433	25.4	0.99749953013701442	0.84152	0.83403	0.42523	D	AEFGBHCI	0.495956	0.53110	N	0.585906666347896	0.72295	5.783172	0.53400450822337	0.70291	5.483876	0.999999905326813	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	5.42	5.42	0.78666	4.612000	0.60873	9.408000	0.80685	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	1.0:0.0:0.0:0.0	11.858	0.51728	645	0.63593	Schlafen, AAA domain;.;Schlafen, AAA domain;.;Schlafen, AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1708.33	35	chr1	41017856	.	A	G	1708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.499;DP=776;ExcessHet=0;FS=4.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=2.02;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	18	0	1	0
chr1	41152625	41152625	G	A	exonic	SCMH1	.	nonsynonymous SNV	SCMH1:NM_001031694:exon4:c.C50T:p.P17L	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00752208256858	0.0062	0.00199681	0.0046	0.0010	0.0026	0	0.0011	0.0072	0.0022	0.0018	0.0047283	731	154602	rs114233776	0.0056	0.0056	0.0057	0.0056	0.0106	0.0055	0.0055	0.0085	0.0077	0.0014	0.0039	0.0152	0	0.0016	0.0106	0.0063	0.0063	0.0013	0.0047	0.0047	0.0051	0.0042	0.0061	0.0044	0.0043	0.0056	0.0054	0.0013	0.0614	0.0046	0.0210	0	0.0013	0.0068	0.0061	0.0071	0.0019	0.006	0.61437	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.284347	0.14886	N	0.657827	0.95199	0.81001	D	0.895	0.22405	L	2.35	0.16217	T	-1.41	0.34795	N	0.316	0.35620	-1.0499	0.14425	T	0.020	0.08266	T	10	0.0065268576	0.00148	T	0.007522	0.19952	T	0.103	0.29403	.	.	0.151262610727	0.14761	0.524196079369963	0.52343	.	.	.	.	.	0.191066	0.54579	T	-0.57438	0.00208	T	-0.591294	0.13554	T	0.0137737123849673	0.00259	T	0.607039	0.22875	T	0.0540155	0.10303	0.055556532	0.09769	0.0540155	0.10303	0.055556532	0.09768	-2.188	0.03983	T	.	.	0.176	0.40131	B	.;.	.;.	1.691756	0.21554	15.25	0.99679535803375918	0.79174	0.43174	0.27040	N	AEFDGBHCI	0.084697	0.17166	N	-0.385090706085464	0.26000	1.415642	-0.229706834339178	0.30476	1.716327	0.999999999966236	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.35	2.48	0.29194	0.557000	0.23159	4.315000	0.42981	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.271:0.0:0.729:0.0	7.241	0.25269	429	0.80881	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.010870	0.005848	0.000000	0.008621	0.003049	0.000000	0.05263	2756.83	34	chr1	41152625	.	G	A	2756.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=847;ExcessHet=0.119;FS=6.715;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.194;SOR=0.9	GT:AD:DP:GQ:PL	0/1:72,54:126:99:1235,0,1695	17	0	2	0
chr1	41382133	41382133	-	CGG	exonic	FOXO6	.	nonframeshift insertion	FOXO6:NM_001291281:exon2:c.932_933insCGG:p.G315_A316insG	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021760826	0.0001	6.909e-05	8.44e-05	0.0001	0.0008	8.924e-05	8.276e-05	0.0006	0.0005	6.263e-05	0	0	0.0003	0	0	8.535e-05	0.0002	0.0008	0.0024	0.0015	0.0015	0.0031	0.0500	0.0013	0.0010	0.0136	0.0073	0.0018	0	0.0024	0	0	0	0	0.0031	0	0.0500	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	255.55	24	chr1	41382133	.	A	ACGG	255.55	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.065;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.415;SOR=0.892	GT:AD:DP:GQ:PL	./.:41,0:41:0:0,0,910	13	0	1	5
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	C	CGGGACGCCCGCCTACTTCGGCGGCTG	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:84:.:.:0,84,1260:.	17	0	2	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	432.58	8	chr1	41382209	.	CCA	C	432.58	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.21;DP=301;ExcessHet=0.7564;FS=23.127;InbreedingCoeff=-0.1385;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.21;SOR=5.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:84:.:.:0,84,1260:.	17	0	2	0
chr1	41382211	41382211	A	0	exonic	FOXO6	.	.	.	.	1155	328	31	5	3	44	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	197.34	19	chr1	41382211	.	A	*	197.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.38;DP=293;ExcessHet=0.5552;FS=21.312;InbreedingCoeff=-0.2235;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=1.38;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:33,0:33:0:.:.:0,0,673:.	3	0	2	14
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	155.54	19	chr1	41382212	.	G	GGGAC	155.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=288;ExcessHet=0;FS=9.26;InbreedingCoeff=-0.043;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.142;SOR=3.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:87:.:.:0,87,1305:.	18	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.02632	630.33	35	chr1	41510704	.	C	T	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.516;DP=772;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.536;SOR=0.454	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	18	0	1	0
chr1	41511050	41511050	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6619A:p.G2207R,HIVEP3:NM_024503:exon9:c.G6622A:p.G2208R	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00658565059631	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs371352900	4.516e-05	4.515e-05	5.31e-05	3.714e-05	5.306e-05	3.542e-05	3.322e-05	4.178e-05	3.826e-05	0	0	0	0	9.379e-05	0	5.306e-05	3.312e-05	0	4.595e-05	4.593e-05	6.423e-05	2.685e-05	0.0002	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.006	0.61437	D	0.101	0.38596	T	0.047	0.21998	B	0.027	0.21085	B	0.010187	0.30029	N	0.162693	0.887581	0.35882	D	1.04	0.26193	L	3.37	0.05847	T	-1.16	0.31778	N	0.542	0.56919	-1.0152	0.25272	T	0.013	0.05129	T	10	0.06663537	0.09167	T	0.006586	0.17358	T	0.037	0.09474	0.305	0.27485	0.183819452728	0.17975	0.1731505287264743	0.17235	0.81697506507	0.66986	0.577567338943	0.49743	T	0.131115	0.46042	T	-0.320449	0.06860	T	-0.461411	0.26446	T	0.164107241703033	0.18170	T	0.808919	0.45897	T	0.140944	0.32497	0.09719083	0.23124	0.140944	0.32497	0.09719083	0.23123	-4.522	0.31447	T	.	.	0.212	0.44095	B	.;.;.	.;.;.	4.387655	0.67691	25.1	0.9989856012551066	0.97124	0.22220	0.21673	N	AEFBI	0.121434	0.23609	N	-0.323774973855493	0.28247	1.556472	-0.203484225698302	0.31409	1.777385	0.999778869558975	0.42865	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.79	3.8	0.42887	2.025000	0.40679	5.685000	0.49312	0.599000	0.40250	0.795000	0.29657	1.000000	0.68203	0.995000	0.73285	0.0:0.7679:0.0:0.2321	7.219	0.25153	455	0.79073	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1093.33	79	chr1	41511050	.	C	T	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.477;DP=781;ExcessHet=0;FS=4.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.271;SOR=0.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	18	0	1	0
chr1	41580099	41580099	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C4699T:p.P1567S,HIVEP3:NM_024503:exon4:c.C4699T:p.P1567S	.	419	1086	16	1	0	18	0.00821918	.	.	.	2812715	not_provided|HIVEP3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	0.00347639636376	0.0035	0.000998403	0.0029	0.0011	0.0012	0	0.0006	0.0031	0.0022	0.0068	0.0027619	427	154602	rs34970884	0.0035	0.0035	0.0034	0.0037	0.0078	0.0035	0.0034	0.0073	0.0071	0.0007	0.0008	0.0008	5.038e-05	0.0008	0.0061	0.0037	0.0031	0.0078	0.0022	0.0022	0.0025	0.0018	0.0050	0.0020	0.0019	0.0034	0.0029	0.0009	0	0.0012	0.0014	0	0.0003	0.0034	0.0034	0.0028	0.0050	0.153	0.28148	T	0.375	0.16473	T	0.787	0.44504	P	0.603	0.50895	P	0.002498	0.36462	N	0.126422	0.912533	0.36450	D	1.39	0.34934	L	3.34	0.06291	T	-0.41	0.14000	N	0.45	0.49874	-1.0668	0.10131	T	0.028	0.12147	T	10	0.005597472	0.00124	T	0.003476	0.07847	T	0.075	0.21907	.	.	0.353761421236	0.34979	0.14998840616608533	0.14920	0.664536729555	0.59094	0.405171245337	0.25787	T	0.112181	0.42825	T	-0.5147	0.00472	T	-0.507262	0.21597	T	0.026973808853685	0.01540	T	0.772323	0.40326	T	0.07413368	0.16614	0.09711619	0.23102	0.07413368	0.16614	0.09711619	0.23101	-3.349	0.14378	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	3.120673	0.42134	21.5	0.99357404352292822	0.60862	0.98970	0.89343	D	AEFDGBI	0.531179	0.55156	D	0.334661860369669	0.57934	3.963064	0.411819826435101	0.62301	4.443145	0.999994744115087	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	4.294000	0.58840	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.155:0.845:0.0	13.638	0.61707	485	0.77085	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1987.33	33	chr1	41580099	.	G	A	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=944;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.59;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr1	41581647	41581647	G	C	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C3151G:p.L1051V,HIVEP3:NM_024503:exon4:c.C3151G:p.L1051V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00961983002617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.032	0.53426	D	0.999	0.77913	D	0.962	0.70672	D	0.001960	0.37596	N	0.000000	0.994841	0.42439	D	2.24	0.63355	M	0.92	0.44461	T	-1.79	0.42191	N	0.482	0.61002	-0.7102	0.59942	T	0.229	0.59447	T	10	0.35429668	0.52217	T	0.00962	0.25153	T	0.125	0.34456	0.155	0.05858	0.571554507246	0.56821	0.2152372199773753	0.21439	0.746002477667	0.63520	0.687279939651	0.65314	T	0.215717	0.57768	T	-0.0957794	0.37124	T	-0.375357	0.36265	T	0.915600001811981	0.57269	D	0.919208	0.70896	D	0.24244663	0.47172	0.22200981	0.47031	0.24244663	0.47172	0.22200981	0.47030	-10.427	0.76426	D	.	.	0.278	0.51165	B	.;.;.	.;.;.	3.828171	0.55313	23.6	0.99754391554614574	0.84537	0.98152	0.80048	D	AEFBI	0.678118	0.64259	D	0.59435325380405	0.72821	5.866475	0.573988309062858	0.73079	5.912446	0.999830742925687	0.43792	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	3.967000	0.56509	8.678000	0.78033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.847	0.88646	486	0.77016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1291.33	50	chr1	41581647	.	G	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=1311;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.561;SOR=0.593	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr1	42473203	42473206	TGTT	-	exonic	PPCS	.	frameshift deletion	PPCS:NM_001287511:exon3:c.694_697del:p.C232Wfs*9	.	550	970	2	0	0	2	0.00102987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs566586563	9.082e-05	6.977e-05	8.074e-05	0.0001	0.0040	7.624e-05	7.005e-05	0.0033	0.0030	0	0.0002	0	0	0	0.0003	1.196e-05	0.0001	0.0040	0.0001	0.0001	0.0001	0.0002	0.0039	9.736e-05	8.251e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	979.29	42	chr1	42473202	.	CTGTT	C	979.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=700;ExcessHet=0;FS=3.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.725;SOR=0.911	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	42556241	42556241	G	T	exonic	CCDC30	.	stopgain	CCDC30:NM_001080850:exon6:c.G511T:p.E171X	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016243	0.28027	N	0.374979	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.17691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	7.458782	0.96538	36	0.99597125772115735	0.73983	0.84313	0.43395	D	AEFBI	0.124745	0.24094	N	0.679020026050972	0.78257	6.835416	0.436976582631321	0.63885	4.631412	0.0111538492386209	0.12139	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	4.74	0.59717	1.826000	0.38730	3.906000	0.40380	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0903:0.0:0.9097:0.0	10.299	0.42820	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	596.33	34	chr1	42556241	.	G	T	596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.456;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1081	18	0	1	0
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.02632	1591.33	109	chr1	42735803	.	G	C	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=747;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.689;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	18	0	1	0
chr1	42766646	42766646	A	C	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.T326G:p.F109C,P3H1:NM_001243246:exon1:c.T326G:p.F109C,P3H1:NM_022356:exon1:c.T326G:p.F109C	Osteogenesis imperfecta, type VIII, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	448080	Osteogenesis_imperfecta_type_8	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.431215419546	.	.	2.36e-05	0	0.0003	0	0	0	0	0	1.29e-05	2	154602	rs761389160	2.035e-05	2.052e-05	1.529e-05	2.552e-05	0.0002	1.428e-05	1.234e-05	1.639e-05	9.67e-06	6.171e-05	5.047e-05	0	2.649e-05	0	0.0002	1.737e-05	0	4.878e-05	3.285e-05	3.282e-05	1.286e-05	5.375e-05	7.223e-05	1.261e-05	7.98e-06	1.915e-05	1.031e-05	7.223e-05	0	0	0	0	0	0	2.942e-05	0	0	0.001	0.78490	D	0.006	0.74150	D	1.0	0.90584	D	0.964	0.79672	D	0.000000	0.84330	D	0.000000	0.999838	0.49637	D	2.86	0.83026	M	0.7	0.51474	T	-4.27	0.77470	D	0.778	0.80964	-0.6231	0.63860	T	0.247	0.61577	T	10	0.5406082	0.63697	D	0.431215	0.93985	D	0.246	0.55340	0.266	0.21261	0.51093147181	0.50733	0.7395556963016482	0.73900	2.54765427674	0.97855	0.911887586117	0.97646	D	0.576041	0.86041	D	-0.00638598	0.50770	T	-0.0212477	0.68947	D	0.911434888839722	0.56700	D	0.771423	0.40183	T	0.7789699	0.82591	0.7445749	0.84902	0.7789699	0.82592	0.7445749	0.84903	-9.376	0.70085	D	0.6872507370443766	0.76448	0.728	0.77955	P	.;.;.;.	.;.;.;.	4.905840	0.80670	27.4	0.98900478921328439	0.48181	0.74017	0.36204	D	AEFDBHCIJ	0.736939	0.68229	D	0.518006153048878	0.68155	5.178424	0.458135851423687	0.65242	4.798984	0.999999999932537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.14	4.14	0.47821	3.419000	0.52486	10.860000	0.83972	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	9.484	0.38082	507	0.75469	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	37	chr1	42766646	.	A	C	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.231;SOR=0.697	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1206	18	0	1	0
chr1	42831028	42831028	G	A	exonic	ERMAP	.	nonsynonymous SNV	ERMAP:NM_018538:exon3:c.G346A:p.V116M,ERMAP:NM_001017922:exon4:c.G346A:p.V116M	.	0	1520	2	0	0	2	0.000657462	.	.	.	3442137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.381	0.025979220294	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs563298024	1.3e-05	1.3e-05	1.225e-05	1.375e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	0	0	0	2.519e-05	0	0	8.093e-06	3.311e-05	8.115e-05	6.564e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	0.002	0.79402	D	0.998	0.73220	D	0.862	0.61339	P	0.005759	0.32538	N	0.133082	1	0.08975	N	3.84	0.95699	H	-0.34	0.68474	T	-1.99	0.45949	N	0.53	0.56058	-0.1796	0.78190	T	0.572	0.84531	D	10	0.55627185	0.64535	D	0.025979	0.48919	D	0.381	0.69863	0.517	0.61763	0.819228050113	0.81752	0.6316082064679078	0.63094	0.600074570013	0.55104	0.465600669384	0.34077	T	0.159595	0.50310	T	-0.0158324	0.49444	T	-0.0789907	0.64978	T	0.950393259525299	0.63326	D	0.820318	0.47908	T	0.37261027	0.58777	0.3410961	0.59853	0.37261027	0.58777	0.3410961	0.59853	-7.558	0.58017	D	.	.	0.558	0.67136	A	.;.	.;.	2.889587	0.38266	20.7	0.99806930673473393	0.89085	0.18391	0.20241	N	AEFBHI	0.056715	0.10505	N	0.393755748253412	0.61082	4.304783	0.210373674744319	0.50423	3.234427	0.999999583565506	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.584781	0.30282	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	0.790000	0.26562	5.043000	0.46929	0.676000	0.76740	0.214000	0.24469	1.000000	0.68203	0.047000	0.14932	0.0:0.0:1.0:0.0	13.556	0.61223	696	0.58299	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2499.33	36	chr1	42831028	.	G	A	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.389;SOR=0.721	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr1	42842639	42842639	G	A	exonic	ERMAP	.	nonsynonymous SNV	ERMAP:NM_018538:exon11:c.G835A:p.V279I,ERMAP:NM_001017922:exon12:c.G835A:p.V279I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0002	0.00279553	0.0009	9.61e-05	0.0003	0.0092	0.0002	0.0001	0.0022	0.0008	0.0008279	128	154602	rs144048339	0.0003	0.0003	0.0003	0.0003	0.0046	0.0003	0.0002	0.0041	0.0039	2.987e-05	8.944e-05	0.0001	0.0046	1.872e-05	0.0003	9.263e-05	0.0006	0.0009	0.0004	0.0004	0.0003	0.0005	0.0099	0.0003	0.0003	0.0077	0.0069	2.407e-05	0	0	0	0.0099	0	0	8.82e-05	0	0.0010	0.393	0.10730	T	0.713	0.05470	T	1.0	0.90584	D	0.997	0.86255	D	0.064503	0.21948	N	0.424952	1	0.08975	N	1.065	0.27018	L	2.85	0.10578	T	-0.27	0.11366	N	0.061	0.03283	-1.0638	0.10831	T	0.029	0.12453	T	10	0.004298836	0.00086	T	.	.	.	0.071	0.20720	.	.	0.15556083564	0.15200	0.2061214561723195	0.20529	0.500056325963	0.48431	0.325548022985	0.14261	T	0.003963	0.03373	T	-0.572238	0.00215	T	-0.585361	0.14069	T	0.0340724794719423	0.02650	T	0.209679	0.02524	T	0.05985538	0.12215	0.07723031	0.17182	0.0686512	0.14973	0.0648982	0.13074	-4.782	0.34380	T	.	.	0.161	0.35602	B	.;.	.;.	2.265683	0.28955	17.97	0.99454521386768391	0.65479	0.12376	0.17231	N	AEFBI	0.116042	0.22790	N	-0.168133187266367	0.34466	1.967594	-0.296762369213067	0.28205	1.570725	0.953034753146316	0.28050	0.615465	0.37627	0	0.53679	0.11191	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	4.91	4.0	0.45673	0.007000	0.13074	9.987000	0.82961	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.512000	0.29290	0.1904:0.0:0.8096:0.0	7.449	0.26398	670	0.60992	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3381.83	33	chr1	42842639	.	G	A	3381.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.678;DP=829;ExcessHet=0.119;FS=3.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.528;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	17	0	2	0
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT,CFAP57:NM_001378189:exon16:c.2546_2547insCAC:p.V849_R850insT	.	2	1507	12	1	0	14	0.00462351	.	.	.	3197253	CFAP57-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1049.29	34	chr1	43222837	.	T	TCAC	1049.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=692;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=-1.487;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	43273146	43273146	C	T	exonic	TMEM125	.	nonsynonymous SNV	TMEM125:NM_001320244:exon4:c.C424T:p.R142W,TMEM125:NM_144626:exon4:c.C424T:p.R142W	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0398850038249	.	0.000399361	0.0002	0	0.0002	0.0020	0	1.682e-05	0	0.0002	0.0001682	26	154602	rs569478207	0.0001	0.0001	0.0001	0.0001	0.0013	9.545e-05	9.025e-05	0.0010	0.0009	0	0.0002	0	0.0013	0	0.0003	6.298e-05	0.0002	0.0002	7.878e-05	7.873e-05	2.57e-05	0.0001	0.0014	4.493e-05	3.509e-05	0.0006	0.0004	0	0	6.533e-05	0	0.0014	0	0	2.941e-05	0	0.0004	0.003	0.68238	D	0.02	0.58613	D	0.017	0.17573	B	0.004	0.10090	B	0.028905	0.25531	N	0.406223	0.998438	0.22156	N	2.045	0.56016	M	0.78	0.49358	T	-4.26	0.76174	D	0.258	0.29197	-0.9974	0.30646	T	0.086	0.33354	T	10	0.00991565	0.00222	T	0.039885	0.59065	D	0.066	0.19193	0.413	0.45052	0.246215685461	0.24236	0.39545051292008093	0.39460	0.463055183834	0.45820	0.49998024106	0.38825	T	0.078626	0.35937	T	-0.466805	0.00890	T	-0.467937	0.25739	T	0.107689600708889	0.13182	T	0.889511	0.62170	D	0.132534	0.30857	0.13186069	0.31654	0.132534	0.30857	0.13186069	0.31653	-3.236	0.12926	T	.	.	0.125	0.26419	B	.;.	.;.	2.673502	0.34861	19.74	0.96874321672265817	0.31434	0.20056	0.20898	N	AEFDBHCI	0.278264	0.39258	N	-1.32816852021958	0.03357	0.1498017	-1.29832853643974	0.04454	0.2101083	0.710879469589419	0.22818	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	1.65	0.23015	0.392000	0.20527	1.783000	0.28733	-0.171000	0.11205	0.039000	0.20931	0.743000	0.26496	0.841000	0.39698	0.3062:0.6262:0.0:0.0676	11.385	0.49021	498	0.76166	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1630.33	43	chr1	43273146	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=844;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.219;SOR=0.51	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	43283030	43283030	C	T	exonic	C1orf210	.	nonsynonymous SNV	C1orf210:NM_001164829:exon3:c.G97A:p.V33M,C1orf210:NM_182517:exon3:c.G97A:p.V33M	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0329547528108	0.0004	0.00119808	0.0005	9.733e-05	0	0.0028	0	0.0005	0	0.0006	0.0004722	73	154602	rs184222741	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0016	2.987e-05	2.236e-05	0.0051	0.0021	0	0.0002	2.248e-05	0.0008	0.0004	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	4.411e-05	0	0.0008	0.037	0.43085	D	0.103	0.38305	T	0.994	0.66517	D	0.864	0.61462	P	0.020420	0.27045	N	0.337920	0.650858	0.30534	N	2.71	0.79292	M	0.8	0.48769	T	-1.46	0.35792	N	0.243	0.45803	-0.6355	0.63337	T	0.171	0.51229	T	10	0.009920925	0.00222	T	0.032955	0.54641	D	0.073	0.21317	.	.	0.501685917333	0.49804	0.5321725104097316	0.53142	0.55488461018	0.52210	.	.	.	0.043201	0.26427	T	-0.435287	0.01379	T	-0.39722	0.33709	T	0.0519698236404119	0.05843	T	0.763624	0.39028	T	0.08256864	0.19028	0.10789564	0.25981	0.08256864	0.19028	0.10789564	0.25981	-5.961	0.45952	T	.	.	0.175	0.38372	B	.;.	.;.	4.184655	0.63024	24.5	0.9985151774795028	0.93102	0.88277	0.48132	D	AEFBI	0.247822	0.36833	N	0.443584810960088	0.63839	4.625662	0.389244027210623	0.60902	4.283106	0.997918239133457	0.36186	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	1.984000	0.40279	1.780000	0.28708	0.587000	0.30956	0.980000	0.35271	0.929000	0.28499	0.856000	0.40543	0.2913:0.7087:0.0:0.0	10.936	0.46459	514	0.74853	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2020.83	33	chr1	43283030	.	C	T	2020.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.19;DP=768;ExcessHet=0.119;FS=0.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.62;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	17	0	2	0
chr1	43307271	43307271	A	G	exonic	TIE1	.	nonsynonymous SNV	TIE1:NM_001253357:exon5:c.A635G:p.Q212R,TIE1:NM_005424:exon5:c.A770G:p.Q257R	.	424	1097	1	0	0	1	0.000455581	0.0047	0.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00503378017481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	0.16574	T	0.637	0.11190	T	0.0	0.02946	B	0.0	0.01387	B	0.034795	0.24725	N	0.199285	1	0.81001	D	-0.24	0.03895	N	0.74	0.50459	T	-0.24	0.11366	N	0.237	0.26717	-1.0540	0.13305	T	0.066	0.27156	T	10	0.116309166	0.21937	T	0.005034	0.12722	T	0.052	0.14661	0.121	0.02793	0.762959940674	0.76080	0.22527203508044336	0.22442	0.365324628893	0.38131	0.503993332386	0.39384	T	0.177607	0.52796	T	-0.185205	0.22964	T	-0.503811	0.21953	T	0.578231334686279	0.35550	D	0.680032	0.28847	T	0.085125186	0.19732	0.09929799	0.23703	0.085125186	0.19732	0.09929799	0.23703	-4.698	0.33380	T	.	.	0.084	0.15430	B	.;.	.;.	2.964401	0.39493	21.0	0.9437095131720864	0.24737	0.86507	0.45801	D	AEFDGBI	0.583079	0.58244	D	-0.228717147126565	0.31960	1.797414	0.000516213042639907	0.39740	2.360926	0.931667121183896	0.27058	0.67177	0.52595	0	0.693144	0.66847	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	3.390000	0.52263	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.9072:0.0:0.0928:0.0	8.765	0.33859	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	35	chr1	43307271	.	A	G	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.19;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.945;SOR=0.674	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	0	1	0
chr1	43346584	43346584	A	G	exonic	MPL	.	nonsynonymous SNV	MPL:NM_005373:exon7:c.A1120G:p.T374A	Myelofibrosis with myeloid metaplasia, somatic;Thrombocythemia 2, Autosomal dominant, Somatic mutation;Thrombocytopenia, congenital amegakaryocytic, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	138577	Thrombocythemia_2|Congenital_amegakaryocytic_thrombocytopenia|Primary_myelofibrosis|Essential_thrombocythemia|not_specified|Thrombocythemia_1|not_provided|Congenital_amegakaryocytic_thrombocytopenia_1	MONDO:MONDO:0011173,MedGen:C3275998,OMIM:601977|MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319|MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824|MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318|MedGen:CN169374|MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950|MedGen:C3661900|MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.169	.	.	0.00559105	0.0031	0	0.0003	0.0266	0	5.995e-05	0.0033	0.0079	0.0027878	431	154602	rs190983971	0.0012	0.0012	0.0009	0.0015	0.0189	0.0012	0.0011	0.0177	0.0173	5.974e-05	0.0002	0	0.0189	0	0.0005	6.025e-05	0.0042	0.0078	0.0013	0.0013	0.0012	0.0014	0.0245	0.0011	0.0011	0.0211	0.0198	9.626e-05	0	0.0008	0	0.0245	0	0	1.471e-05	0.0038	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.211197	0.16362	N	0.660669	0.999992	0.08975	N	-0.97	0.01230	N	-1.54	0.81640	D	0.04	0.06488	N	0.061	0.03283	-0.9684	0.37530	T	0.071	0.28969	T	10	0.0020261705	0.00029	T	.	.	.	0.169	0.43123	.	.	0.496036935653	0.49239	0.12280271784034485	0.12206	0.184258357792	0.20723	0.294538021088	0.09589	T	0.213503	0.57485	T	-0.587963	0.00172	T	-0.597073	0.13057	T	0.00141769740675991	0.00014	T	0.173583	0.01657	T	0.035918612	0.04319	0.036811136	0.03203	0.029512392	0.02458	0.039224092	0.03965	-2.73	0.07558	T	0.17373984107126314	0.22027	0.058	0.01233	B	.;.	.;.	1.115241	0.15006	11.51	0.5240398232137331	0.04742	0.01531	0.05040	N	AEFDBI	0.027453	0.02244	N	-1.05963361468103	0.07399	0.343642	-0.817905415695293	0.14062	0.7328151	0.996032498152874	0.34482	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.613276	0.41899	0	.	.	5.31	3.19	0.35720	0.302000	0.18947	2.168000	0.31032	-0.873000	0.02525	0.008000	0.17931	0.131000	0.23000	0.895000	0.43227	0.3488:0.0:0.6512:0.0	7.516	0.26770	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3074.83	37	chr1	43346584	.	A	G	3074.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=890;ExcessHet=0.119;FS=1.486;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.24;SOR=0.799	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1105	17	0	2	0
chr1	43361123	43361123	G	A	exonic	CDC20	.	nonsynonymous SNV	CDC20:NM_001255:exon9:c.G1081A:p.V361I	.	417	1076	27	2	0	31	0.0142006	.	.	.	696753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0062	0.00459265	0.0079	0.0014	0.0012	0	0.0110	0.0079	0.0088	0.0192	0.0071797	1110	154602	rs1801456	0.0071	0.0071	0.0067	0.0074	0.0179	0.0070	0.0069	0.0172	0.0169	0.0010	0.0018	0.0039	2.519e-05	0.0115	0.0089	0.0068	0.0070	0.0179	0.0051	0.0051	0.0048	0.0054	0.0201	0.0048	0.0046	0.0169	0.0157	0.0017	0	0.0016	0.0043	0	0.0104	0.0068	0.0065	0.0033	0.0201	0.105	0.29823	T	0.159	0.31527	T	0.238	0.30817	B	0.094	0.30180	B	0.000001	0.84330	D	0.056219	0.999924	0.51308	D	-0.11	0.04642	N	0.14	0.60854	T	0.66	0.02297	N	0.21	0.23380	-1.0025	0.29197	T	0.106	0.38808	T	10	0.01017648	0.00228	T	.	.	.	0.080	0.23350	.	.	0.723900465636	0.72146	0.07991430450505897	0.07926	0.297608200637	0.32142	0.58004963398	0.50092	T	0.083725	0.37119	T	-0.443023	0.01241	T	-0.394868	0.33984	T	0.00911748794720931	0.00115	T	0.924008	0.72230	D	0.14421554	0.33111	0.11717394	0.28287	0.14421554	0.33111	0.11717394	0.28287	-3.099	0.11285	T	.	.	0.078	0.07841	B	.;.	.;.	2.999769	0.40076	21.1	0.98976858905928555	0.49660	0.89519	0.50035	D	AEFDBCI	0.500914	0.53397	D	-0.00508198642710518	0.41625	2.493116	0.184953470666326	0.49021	3.11054	0.999999999938571	0.74766	0.645754	0.44609	0	0.685571	0.66316	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.64	5.64	0.86480	2.908000	0.48448	11.910000	0.99563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	19.687	0.95979	774	0.48577	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.009511	0.008772	0.000000	0.000000	0.015244	0.011364	0.02632	1684.33	38	chr1	43361123	.	G	A	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=813;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=0.224;SOR=0.978	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr1	43424830	43424830	A	G	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon17:c.A2518G:p.I840V,SZT2:NM_015284:exon17:c.A2518G:p.I840V	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754530208438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452463823	1.163e-05	1.163e-05	9.529e-06	1.375e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.169e-05	0	4.637e-05	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.085	0.57729	M	.	.	.	-0.38	0.13418	N	0.485	0.51940	.	.	.	.	.	.	.	0.60678	0.67219	D	0.75453	0.98046	D	.	.	.	.	0.566883017009	0.56351	0.17852623105267468	0.17771	0.79122859426	0.65794	0.567661643028	0.48348	T	0.095183	0.39569	T	-0.0299204	0.47428	T	-0.265269	0.48296	T	.	.	.	0.911709	0.68653	D	0.10025507	0.23671	0.25373465	0.51026	0.10025507	0.23671	0.25373465	0.51025	-4.006	0.23893	T	0.5305219567103027	0.60145	0.154	0.34116	B	.;.	.;.	4.379258	0.67488	25.1	0.99785330587563015	0.87131	0.98902	0.88388	D	AEFDBI	0.744214	0.68727	D	.	.	.	.	.	.	0.999998432590816	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	6.024000	0.70506	11.185000	0.88454	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.106	0.81032	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	536.33	35	chr1	43424830	.	A	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=693;ExcessHet=0;FS=8.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=2.22;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr1	43441554	43441554	T	C	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon53:c.T7391C:p.V2464A,SZT2:NM_001365999:exon54:c.T7562C:p.V2521A	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	417	1087	17	1	0	19	0.00866393	.	.	.	237176	not_provided|SZT2-related_disorder|Developmental_and_epileptic_encephalopathy,_18|not_specified|Inborn_genetic_diseases	MedGen:C3661900|.|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00470960270413	0.0039	0.000798722	0.0053	0.0011	0.0019	0	0.0005	0.0086	0.0044	0.0015	0.0052587	813	154602	rs150113647	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0008	0.0028	0.0018	0	0.0011	0.0047	0.0053	0.0040	0.0013	0.0033	0.0033	0.0035	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0026	0.0012	0	0.0006	0.0068	0.0059	0.0024	0.0008	0.033	0.44358	D	0.008	0.67890	D	0.4	0.34852	B	0.121	0.32300	B	0.012492	0.29156	N	0.334680	0.999999	0.08975	N	1.67	0.42885	L	.	.	.	-1.83	0.42957	N	0.706	0.70966	-1.0086	0.27354	T	0.061	0.25383	T	9	0.009698093	0.00218	T	0.00471	0.11722	T	.	.	.	.	0.501874446873	0.49824	0.5733369692536592	0.57262	0.525076752411	0.50180	0.432314991951	0.29525	T	0.113489	0.43057	T	-0.399741	0.02324	T	-0.340438	0.40294	T	0.00609547073741499	0.00067	T	0.518148	0.16784	T	0.03678032	0.04591	0.093024164	0.21952	0.039399084	0.05433	0.08782407	0.20439	-3.095	0.11239	T	0.2323983399921941	0.31454	0.176	0.38534	B	.;.	.;.	3.281105	0.44954	22.0	0.99446806567216017	0.65071	0.92859	0.56721	D	AEFDGBCI	0.317305	0.42134	N	0.100715217444389	0.46496	2.889063	0.233314450735381	0.51704	3.350794	0.788456764300544	0.23972	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	4.42	0.52775	4.090000	0.57417	4.280000	0.42877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.1343:0.8657	13.992	0.63886	782	0.47442	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	1800.33	39	chr1	43441554	.	T	C	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=860;ExcessHet=0;FS=4.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=2.07;SOR=1.072	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1173	18	0	1	0
chr1	43553493	43553493	C	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329139:exon4:c.C93G:p.S31R,PTPRF:NM_001329140:exon4:c.C93G:p.S31R,PTPRF:NM_002840:exon4:c.C93G:p.S31R,PTPRF:NM_130440:exon4:c.C93G:p.S31R,PTPRF:NM_001329137:exon5:c.C93G:p.S31R,PTPRF:NM_001329138:exon5:c.C93G:p.S31R	.	.	.	.	.	.	.	.	0.9465	0.688	.	2436815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0205941089864	.	.	8.284e-06	0	0	0	0	0	0	6.24e-05	6.5e-06	1	154602	rs763748777	7.527e-06	7.525e-06	4.085e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	1.799e-06	3.313e-05	3.48e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.56456	D	0.027	0.55341	D	0.187	0.45919	B	0.034	0.44317	B	0.001000	0.40743	D	0.000000	1	0.81001	D	0	0.06538	N	0.4	0.60854	T	-1.51	0.49187	N	0.69	0.73375	-1.0102	0.26854	T	0.119	0.41626	T	10	0.21609184	0.38181	T	0.020594	0.43215	T	0.156	0.40720	0.374	0.38667	0.609891544157	0.60675	0.5719321171728848	0.57121	0.835685596605	0.67809	0.590739250183	0.51598	T	0.127153	0.45399	T	-0.0406142	0.45858	T	-0.195486	0.55074	T	0.471415996551514	0.31583	T	0.867413	0.56927	D	0.27107322	0.50178	0.11590745	0.27980	0.27107322	0.50178	0.11590745	0.27979	-5.84	0.44921	T	.	.	0.581	0.68326	P	.;.;.;.	.;.;.;.	3.592489	0.50700	23.0	0.99329178104743376	0.59700	0.90627	0.51960	D	AEFBI	0.450269	0.50474	N	0.0442908251464022	0.43881	2.672425	0.158604963444096	0.47599	2.98779	0.999997154046536	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.89	3.95	0.44952	0.989000	0.29229	2.086000	0.30521	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.8461:0.0:0.1539	10.631	0.44727	693	0.58582	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1364.33	35	chr1	43553493	.	C	G	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.287;DP=755;ExcessHet=0;FS=4.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.37;SOR=0.413	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1402	18	0	1	0
chr1	43619355	43619355	A	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329140:exon25:c.A3802G:p.K1268E,PTPRF:NM_001329139:exon27:c.A3862G:p.K1288E,PTPRF:NM_130440:exon27:c.A4687G:p.K1563E,PTPRF:NM_002840:exon28:c.A4714G:p.K1572E,PTPRF:NM_001329137:exon29:c.A3880G:p.K1294E,PTPRF:NM_001329138:exon31:c.A3904G:p.K1302E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.070024322945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430627272	4.105e-06	4.104e-06	5.446e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	2.698e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.187	0.28764	T	0.995	0.67487	D	0.989	0.78396	D	0.002868	0.35804	N	0.000000	1	0.81001	D	0.41	0.12415	N	-1.69	0.82985	D	-2.98	0.70191	D	0.687	0.69300	0.173	0.85456	D	0.560	0.83984	D	10	0.68265337	0.71373	D	0.070024	0.70890	D	0.633	0.85924	0.491	0.57732	0.902627383259	0.90165	0.6410243853897807	0.64037	0.678797325754	0.59904	0.877725124359	0.93652	D	0.595722	0.86969	D	0.327634	0.85005	D	0.232847	0.84808	D	0.589060134654716	0.35969	D	0.955004	0.82846	D	0.5271415	0.68668	0.44489104	0.67655	0.5271415	0.68669	0.44489104	0.67656	-13.005	0.89385	D	.	.	0.326	0.60566	B	.;.;.	.;.;.	4.885147	0.80157	27.3	0.99506151219169925	0.68322	0.92002	0.54728	D	AEFDGBHCI	0.893046	0.83061	D	0.196487420777859	0.51032	3.287659	0.322905883612688	0.56888	3.852968	0.999996081064246	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	6.157000	0.71647	11.306000	0.92372	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.459	0.75064	601	0.67921	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2254.33	42	chr1	43619355	.	A	G	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.851;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.252;SOR=0.656	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	43671834	43671834	G	A	exonic	KDM4A	.	nonsynonymous SNV	KDM4A:NM_014663:exon11:c.G1693A:p.G565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00626211718336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.522	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	0.791596	0.06715	N	1.087340	0.998777	0.21918	N	0.205	0.09354	N	1.02	0.40749	T	0.24	0.04533	N	0.049	0.02088	-1.0168	0.24755	T	0.044	0.18783	T	10	0.058356553	0.06847	T	0.006262	0.16435	T	0.036	0.09122	0.292	0.25400	0.043077524339	0.03247	0.4027323192104857	0.40189	0.707067738463	0.61477	0.311822444201	0.12182	T	0.010829	0.09734	T	-0.292843	0.09352	T	-0.658425	0.08373	T	0.0416540226404582	0.03991	T	0.717928	0.33070	T	0.017377587	0.00268	0.043021288	0.05258	0.017377587	0.00268	0.043021288	0.05258	-2.925	0.09396	T	.	.	0.136	0.29670	B	.	.	1.848447	0.23484	16.03	0.70108996518127797	0.09188	0.82217	0.41478	D	AEFDBHCI	0.098641	0.19872	N	-0.767603733899983	0.14159	0.7031153	-0.620226622019427	0.18973	1.015978	0.999715691858579	0.42101	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	3.26	0.36471	1.572000	0.36070	3.574000	0.39134	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.583000	0.30967	0.1481:0.1428:0.7091:0.0	7.504	0.26702	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	950.33	37	chr1	43671834	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=803;ExcessHet=0;FS=3.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-1.622;SOR=1.154	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr1	43977343	43977343	C	T	exonic	ATP6V0B	.	nonsynonymous SNV	ATP6V0B:NM_001294333:exon7:c.C718T:p.P240S	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00179712	0.0019	0	0.0014	0	0	0.0003	0.0140	0.0053	0.0005498	85	154602	rs144973199	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0043	0.0041	6.222e-05	0.0003	0.0001	0	0	0.0016	0.0003	0.0008	0.0047	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0016	0	0	0	0	0.0002	0.0009	0.0035	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.35	0.12847	N	0.126	0.11912	-1.0155	0.25175	T	0.044	0.19029	T	6	0.0036219954	0.00066	T	.	.	.	0.007	0.00512	.	.	0.043077524339	0.03247	0.4359435098946122	0.43511	.	.	.	.	.	0.008229	0.07566	T	-0.545466	0.00310	T	-0.55576	0.16777	T	0.00511638632547428	0.00055	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	-0.016545	0.04170	1.005	0.85239337389978642	0.15770	0.07734	0.13735	N	AEFBCI	0.071916	0.14335	N	-1.10842491069673	0.06492	0.2990216	-1.18576299632909	0.06147	0.294978	0.999379009753806	0.39355	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.322989	0.05693	1	.	.	3.4	0.383	0.15462	-1.321000	0.02805	-0.865000	0.07126	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.0:0.5161:0.235:0.2489	3.731	0.08019	308	0.87611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1594.33	121	chr1	43977343	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=813;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.16;SOR=0.919	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr1	43980021	43980021	G	T	exonic	B4GALT2	.	stopgain	B4GALT2:NM_030587:exon1:c.G10T:p.E4X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.302e-07	6.84e-07	1.442e-06	0	3.339e-05	0	0	.	.	3.339e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0588233	0.43092	T	-0.322272	0.42324	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.856418	0.12288	8.828	0.9511498929860045	0.26206	0.00330	0.01723	N	ALL	0.015780	0.00318	N	-0.100792817931881	0.37359	2.172329	-0.503421278928473	0.22059	1.196346	0.999999999954856	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	3.72	0.156	0.14205	-0.642000	0.05524	0.758000	0.21291	-0.293000	0.06271	0.000000	0.06391	0.326000	0.24349	0.066000	0.16387	0.0:0.2305:0.2199:0.5496	3.479	0.07161	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	38	chr1	43980021	.	G	T	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=760;ExcessHet=0;FS=4.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.01;SOR=0.351	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1230,0,1435	18	0	1	0
chr1	43992321	43992321	A	G	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349128:exon2:c.A236G:p.D79G,CCDC24:NM_001349127:exon3:c.A236G:p.D79G,CCDC24:NM_152499:exon3:c.A236G:p.D79G	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0229091223943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.006	0.70582	D	0.944	0.53183	P	0.714	0.54635	P	0.000652	0.42656	D	0.148983	0.965659	0.81001	D	2.52	0.73523	M	.	.	.	-5.25	0.84035	D	0.546	0.57263	-0.5797	0.65629	T	0.276	0.64814	T	9	0.43063152	0.57466	T	0.022909	0.45838	T	0.174	0.44019	0.202	0.11659	0.144782658237	0.14088	0.5023864789593879	0.50160	0.0624827852539	0.06950	0.507915735245	0.39931	T	0.161155	0.50530	T	0.0286526	0.55544	T	-0.196619	0.54967	T	0.924184441566467	0.58523	D	0.637636	0.25136	T	0.35819387	0.57698	0.3893189	0.63754	0.35819387	0.57698	0.3893189	0.63754	-3.819	0.21089	T	.	.	0.264	0.49826	B	.	.	3.701432	0.52790	23.3	0.99690208605273711	0.79909	0.73382	0.35896	D	AEFDGBCI	0.488976	0.52707	N	0.308216641920333	0.56570	3.821827	0.249030262972475	0.52594	3.433273	0.999998373415426	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.12	3.97	0.45241	1.308000	0.33133	6.070000	0.53248	0.665000	0.62972	0.208000	0.24400	1.000000	0.68203	0.133000	0.19684	0.6673:0.0:0.0:0.3326	7.862	0.28676	320	0.86992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1490.33	34	chr1	43992321	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.458;SOR=0.748	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q,CCDC24:NM_001349128:exon8:c.G743A:p.R248Q,CCDC24:NM_001349127:exon9:c.G703A:p.G235S,CCDC24:NM_152499:exon9:c.G707A:p.R236Q	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.000000	0.010870	0.029240	0.050000	0.000000	0.009146	0.015152	0.05263	4793.83	190	chr1	43995943	.	G	A	4793.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.29;DP=930;ExcessHet=0.119;FS=14.815;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.2;SOR=1.302	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	17	0	2	0
chr1	44138746	44138746	C	G	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2886C:p.R962S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs558560418	7.714e-05	3.658e-05	4.938e-05	0.0001	0.0056	5.027e-05	4.197e-05	0.0036	0.0029	0	0	0	0	0	0.0008	6.327e-06	0	0.0056	0.0001	0.0001	7.71e-05	0.0002	0.0035	8.164e-05	6.721e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0	0.0035	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.28146	.	.	.	.	.	.	.	0.041375577	0.02788	T	.	.	.	.	.	.	.	.	.	0.25256225932879484	0.25170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290471	0.05292	T	0.21067025	0.43370	0.26587	0.52426	0.21067025	0.43370	0.26587	0.52425	-8.642	0.65365	D	.	.	0.874	0.81093	P	.	.	1.832111	0.23276	15.96	0.62349396124657264	0.06940	0.11880	0.16920	N	AEFBI	.	.	.	.	.	.	.	.	.	1.14772244678311E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	3.88	2.97	0.33479	1.202000	0.31878	0.658000	0.20477	0.433000	0.20966	0.131000	0.23362	0.281000	0.24108	0.021000	0.11733	0.0:0.8863:0.0:0.1137	7.777	0.28205	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1308.33	33	chr1	44138746	.	C	G	1308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.04;SOR=0.71	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1287	18	0	1	0
chr1	44139230	44139230	G	A	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2402T:p.S801F	.	1131	390	1	0	0	1	0.00128041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0199681	.	.	.	.	.	.	.	.	0.0039189	102	26028	rs538450249	0.0015	0.0040	0.0017	0.0014	0.0102	0.0014	0.0014	0.0091	0.0086	0.0011	0.0087	0.0009	0.0102	0.0017	0	0.0002	0.0017	0.0013	0.0016	0.0047	0.0013	0.0019	0.0078	0.0014	0.0014	0.0058	0.0051	0.0014	0	0.0063	0.0006	0.0078	0.0021	0	0.0004	0.0015	0.0013	.	.	.	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.22870	.	.	.	.	.	.	.	0.005810499	0.00130	T	.	.	.	.	.	.	.	.	.	0.03398565989130853	0.03346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428457	0.11587	T	0.04353749	0.06802	0.08118921	0.18430	0.04353749	0.06801	0.08118921	0.18429	-9.018	0.67813	D	.	.	0.424	0.60905	A	.	.	0.114804	0.05136	1.660	0.57284197864999054	0.05735	0.00181	0.01060	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.3897062531122E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0491283	0.08825	2.44	-2.47	0.06070	-0.641000	0.05531	-5.278000	0.01779	0.347000	0.19874	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.5162:0.1985:0.2853:0.0	3.658	0.07766	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	457.33	304	chr1	44139230	.	G	A	457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=6592;ExcessHet=0;FS=15.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.25;MQRankSum=-1.949;QD=1.46;ReadPosRankSum=-4.114;SOR=1.86	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:403,0:403:99:.:.:0,120,1800:.	18	0	1	0
chr1	44139240	44139240	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2392A:p.V798M	.	1135	386	1	0	0	1	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1443073694	0.0006	0.0039	0.0006	0.0006	0.0044	0.0005	0.0005	0.0037	0.0034	0.0005	0.0043	0	0.0044	0.0005	0	1.965e-05	0.0005	0	0.0013	0.0047	0.0012	0.0014	0.0058	0.0011	0.0010	0.0047	0.0043	0.0012	0	0.0058	0.0003	0.0054	0.0010	0.0051	0.0003	0	0.0005	.	.	.	0.297	0.20551	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.057735562	0.06678	T	.	.	.	.	.	.	.	.	.	0.008777051441396275	0.00841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.017676644	0.00293	0.06578719	0.13383	0.017676644	0.00293	0.06578719	0.13383	-5.322	0.40160	T	.	.	0.125	0.26325	B	.	.	-1.432071	0.00338	0.006	0.51283476527038241	0.04535	0.00086	0.00577	N	AEFGBI	.	.	.	.	.	.	.	.	.	6.11788210062765E-4	0.07460	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0491283	0.08825	3.12	-6.23	0.01875	-3.518000	0.00495	-6.339000	0.01426	-1.578000	0.00923	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4763:0.0:0.5237	10.645	0.44807	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	319.33	304	chr1	44139240	.	C	T	319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=6584;ExcessHet=0;FS=20.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.82;MQRankSum=-1.352;QD=1.04;ReadPosRankSum=-5.06;SOR=2.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:403,0:403:99:.:.:0,120,1800:.	18	0	1	0
chr1	44139574	44139574	C	G	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2058C:p.M686I	.	1147	372	2	0	1	3	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0369409	.	.	.	.	.	.	.	.	0.0088751	231	26028	rs182198560	0.0098	0.0040	0.0100	0.0095	0.0617	0.0094	0.0093	0.0590	0.0579	0.0097	0.0496	0.0029	0.0617	0.0111	0.0023	0.0013	0.0079	0.0100	0.0030	0.0035	0.0025	0.0035	0.0127	0.0028	0.0027	0.0107	0.0101	0.0027	0	0.0122	0.0012	0.0127	0.0051	0	0.0005	0.0025	0.0034	.	.	.	0.36	0.16964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.25499	.	.	.	.	.	.	.	0.0030316412	0.00050	T	.	.	.	.	.	.	.	.	.	0.03254712386023689	0.03202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410759	0.10626	T	0.2873516	0.51746	0.29309183	0.55338	0.2873516	0.51746	0.29309183	0.55337	-5.589	0.42692	T	.	.	0.472	0.63258	A	.	.	0.469565	0.08392	5.146	0.62917458612171839	0.07086	0.08849	0.14716	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.53667691370081E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0924712	0.20834	3.25	1.24	0.20416	0.428000	0.21114	-4.297000	0.02231	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7649:0.0:0.2351	7.713	0.27853	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7989.33	461	chr1	44139574	.	C	G	7989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=6283;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.57;MQRankSum=-3.263;QD=16.47;ReadPosRankSum=1.79;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:290,0:290:99:.:.:0,120,1800:.	18	0	1	0
chr1	44139585	44139585	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2047A:p.G683R	.	1141	378	2	0	1	3	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0371406	.	.	.	.	.	.	.	.	0.0096435	251	26028	rs187231823	0.0098	0.0039	0.0100	0.0096	0.0621	0.0095	0.0093	0.0594	0.0583	0.0097	0.0493	0.0030	0.0621	0.0111	0.0023	0.0014	0.0078	0.0100	0.0031	0.0033	0.0026	0.0036	0.0135	0.0028	0.0027	0.0107	0.0100	0.0028	0	0.0120	0.0009	0.0135	0.0051	0	0.0005	0.0030	0.0035	.	.	.	0.406	0.14725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.003571391	0.00065	T	.	.	.	.	.	.	.	.	.	0.013968648807856695	0.01353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438156	0.12052	T	0.032491583	0.03285	0.08778599	0.20428	0.032491583	0.03284	0.08778599	0.20427	-6.566	0.50793	T	.	.	0.285	0.51738	B	.	.	0.137044	0.05316	1.807	0.45277135155546328	0.03542	0.00179	0.01050	N	AEFGBI	.	.	.	.	.	.	.	.	.	8.96914444952083E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0504749	0.09761	3.25	1.32	0.20897	-1.477000	0.02437	-12.439000	0.00525	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2036:0.5626:0.0:0.2338	3.410	0.06930	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4020.33	461	chr1	44139585	.	C	T	4020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=6287;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.01;MQRankSum=-3.212;QD=9.18;ReadPosRankSum=3.58;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:290,0:290:99:.:.:0,120,1800:.	18	0	1	0
chr1	44139608	44139608	G	A	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2024T:p.S675F	.	1130	389	2	0	1	3	0.0025641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0377396	.	.	.	.	.	.	.	.	0.0128708	335	26028	rs139721762	0.0098	0.0039	0.0101	0.0095	0.0624	0.0095	0.0093	0.0596	0.0585	0.0097	0.0497	0.0029	0.0624	0.0111	0.0023	0.0013	0.0080	0.0100	0.0034	0.0036	0.0029	0.0039	0.0155	0.0032	0.0031	0.0126	0.0115	0.0032	0	0.0131	0.0015	0.0155	0.0054	0	0.0005	0.0024	0.0043	.	.	.	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.24135	.	.	.	.	.	.	.	0.0036884546	0.00068	T	.	.	.	.	.	.	.	.	.	0.035404709908614586	0.03487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565643	0.19997	T	0.058459826	0.11763	0.076747954	0.17030	0.058459826	0.11763	0.076747954	0.17030	-8.991	0.67639	D	.	.	0.701	0.73012	P	.	.	0.960524	0.13370	9.875	0.5916804899946787	0.06161	0.00298	0.01590	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.13813868793235E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0497025	0.09175	2.91	0.778	0.17688	0.094000	0.14946	-7.622000	0.01119	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4625:0.0:0.5375:0.0	3.992	0.09032	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5287.33	461	chr1	44139608	.	G	A	5287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.143;DP=6286;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.6;MQRankSum=-4.778;QD=10.81;ReadPosRankSum=6.48;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:290,0:290:99:.:.:0,120,1800:.	18	0	1	0
chr1	44140024	44140065	AGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1567_1608del:p.G523_T536del	.	1122	398	2	0	0	2	0.00250627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0025	0.0014	0.0012	0.0076	0.0012	0.0011	0.0067	0.0063	0.0001	0.0073	0.0007	0.0076	0.0016	0	0.0002	0.0011	0.0024	0.0003	0.0006	0.0002	0.0004	0.0016	0.0002	0.0002	0.0009	0.0007	0	0	0.0014	0	0.0016	0.0009	0	7.662e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	180	chr1	44140023	.	TAGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=4189;ExcessHet=0;FS=10.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.31;MQRankSum=-9.242;QD=1.39;ReadPosRankSum=-4.75;SOR=1.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:290,0:290:99:.:.:0,120,1800:.	18	0	1	0
chr1	44140213	44140213	-	CCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	exonic	KLF18	.	nonframeshift insertion	KLF18:NM_001358438:exon1:c.1418_1419insAGAGCAGATGACGACCCCCACTAGTAACCAGACCCTCTGTGG:p.Q475_V476insMTTPTSNQTLCGEQ	.	1138	382	2	0	0	2	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0013	0.0026	0.0022	0.0158	0.0022	0.0022	0.0144	0.0138	0	0.0127	0.0007	0.0158	0.0039	0	0.0003	0.0015	0.0017	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0013	0.0011	5.348e-05	0	0.0019	0	0.0012	0.0007	0	4.68e-05	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4129.29	180	chr1	44140213	.	C	CCCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	4129.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=4207;ExcessHet=0;FS=5.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.76;MQRankSum=-3.424;QD=11.07;ReadPosRankSum=-12.88;SOR=0.827	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	18	0	1	0
chr1	44140286	44140324	ATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAG	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1308_1346del:p.S437_M449del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0004	0.0007	0.0006	0.0045	0.0006	0.0006	0.0038	0.0035	0.0002	0.0031	0.0004	0.0045	0.0009	0.0009	4.977e-05	0.0003	0.0007	7.52e-06	0.0002	0	1.536e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3096.29	180	chr1	44140285	.	CATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAG	C	3096.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=4111;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.59;MQRankSum=-1.113;QD=16.21;ReadPosRankSum=0.016;SOR=0.593	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	18	0	1	0
chr1	44140329	44140331	TCA	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1301_1303del:p.M434del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0005	0.0040	0.0028	0.0206	0.0030	0.0028	0.0138	0.0124	0	0.0206	0.0021	0.0161	0.0053	0	0.0006	0.0014	0.0045	5.135e-05	0.0009	0	0.0001	.	0	0	.	.	0	0	0	0.0019	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2024.94	154	chr1	44140328	.	GTCA	G	2024.94	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.337;DP=3826;ExcessHet=0;FS=0;InbreedingCoeff=-0.0299;MLEAC=2;MLEAF=0.25;MQ=49.06;MQRankSum=0.335;QD=27.92;ReadPosRankSum=2.07;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:285,0:285:0:.:.:0,0,4903:.	3	0	1	15
chr1	44140337	44140337	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G1295A:p.G432E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027663	72	26028	rs71653907	0.0014	0.0010	0.0017	0.0012	0.0067	0.0013	0.0012	0.0054	0.0050	0.0003	0.0067	0.0013	0.0064	0.0020	0	0.0005	0.0008	0.0022	0.0001	0.0008	0.0002	3.719e-05	0.0004	4.591e-05	3.087e-05	6.864e-05	2.871e-05	0.0003	0	0.0004	0.0006	0	0	0	2.949e-05	0	0	.	.	.	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.060504645	0.07443	T	.	.	.	.	.	.	.	.	.	0.24862539599642428	0.24776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360864	0.08314	T	0.061698377	0.12805	0.110545546	0.26657	0.061698377	0.12805	0.110545546	0.26656	-6.05	0.46695	T	.	.	0.211	0.43909	B	.	.	0.057708	0.04695	1.336	0.37343130337880764	0.02455	0.00757	0.03139	N	AEFBI	.	.	.	.	.	.	.	.	.	1.77418345474526E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.32	0.381	0.15451	-0.866000	0.04354	-20.000000	0.00162	-4.196000	0.00038	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6874:0.0:0.3126	5.327	0.15217	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	1924.86	129	chr1	44140337	.	C	T	1924.86	.	AC=2;AF=0.067;AN=30;BaseQRankSum=0.472;DP=3399;ExcessHet=0;FS=0;InbreedingCoeff=0.4412;MLEAC=1;MLEAF=0.033;MQ=48.75;MQRankSum=0.335;QD=34.37;ReadPosRankSum=2.69;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:263,0:263:99:.:.:0,120,1800:.	14	1	0	4
chr1	44140359	44140359	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G1273A:p.G425S	.	41	183	1	0	1	2	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035347	92	26028	rs2995020	0.0017	0.0006	0.0019	0.0014	0.0104	0.0015	0.0014	0.0074	0.0064	0	0.0104	0.0007	0.0078	0.0024	0	0.0004	0.0007	0.0023	8.41e-05	0.0007	0.0001	5.955e-05	0.0006	2.229e-05	1.218e-05	.	.	0	0	0	0.0009	0.0006	0	0	4.484e-05	0	0	.	.	.	0.45	0.12957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.10483	.	.	.	.	.	.	.	0.07135722	0.10508	T	.	.	.	.	.	.	.	.	.	0.0563933500996596	0.05580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378362	0.09086	T	0.029444477	0.02440	0.062172353	0.12121	0.029444477	0.02440	0.062172353	0.12121	-8.042	0.61356	D	.	.	0.121	0.25067	B	.	.	-0.914039	0.00902	0.033	0.31517029595806145	0.01780	0.00945	0.03645	N	AEFBI	.	.	.	.	.	.	.	.	.	3.8161378552613E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.32	-2.28	0.06438	-0.647000	0.05495	-3.589000	0.02674	-6.139000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1916:0.4122:0.0:0.3962	3.054	0.05805	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1927.18	87	chr1	44140359	.	C	T	1927.18	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.096;DP=2429;ExcessHet=0;FS=0;InbreedingCoeff=0.2706;MLEAC=2;MLEAF=0.143;MQ=48.43;MQRankSum=1.91;QD=33.23;ReadPosRankSum=3.41;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:194,0:194:0:.:.:0,0,5201:.	6	1	0	12
chr1	44140893	44140893	A	0	exonic	KLF18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	148430.0	631	chr1	44140893	.	A	*	148430.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.706;DP=8521;ExcessHet=3.6106;FS=0.555;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=-0.926;QD=18.3;ReadPosRankSum=0.973;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:266,0:545:99:.:.:6974,7770,15550:.	18	0	1	0
chr1	44803027	44803027	G	C	exonic	PLK3	.	nonsynonymous SNV	PLK3:NM_004073:exon7:c.G822C:p.Q274H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0113113443213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.524e-06	6.807e-06	8.251e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.061	0.45530	T	0.003	0.11197	B	0.021	0.19346	B	.	.	.	.	0.999943	0.51968	D	1.345	0.33447	L	-0.17	0.65563	T	-1.84	0.43149	N	0.458	0.49511	-0.9598	0.39218	T	0.141	0.46202	T	9	0.2803144	0.45606	T	0.011311	0.28804	T	0.104	0.29647	0.458	0.52427	0.788151806563	0.78618	0.56783640495798	0.56711	0.491934448559	0.47861	0.55973803997	0.47231	T	0.251296	0.62153	T	-0.0490741	0.44589	T	-0.308268	0.43845	T	0.183983629082326	0.19483	T	0.677732	0.28664	T	0.3187942	0.54538	0.20122908	0.44093	0.3187942	0.54538	0.20122908	0.44092	-5.089	0.37791	T	.	.	0.156	0.34427	B	.	.	2.345853	0.30070	18.32	0.98389997482085023	0.40947	0.85668	0.44826	D	AEFDGBCI	0.379845	0.46271	N	-0.205563275978439	0.32906	1.860911	0.000932403594275252	0.39760	2.362338	0.999999991347327	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.28	5.28	0.74118	0.236000	0.17745	4.543000	0.43772	0.618000	0.50648	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0932:0.0:0.9068:0.0	11.324	0.48675	0	0.99858	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2436.33	34	chr1	44803027	.	G	C	2436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.831;DP=894;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.342;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	18	0	1	0
chr1	45344859	45344859	T	C	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_001320800:exon10:c.A1448G:p.Q483R,TESK2:NM_007170:exon11:c.A1697G:p.Q566R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0553581991809	0.0002	0.000599042	0.0012	0	0	0.0022	0.0082	0.0010	0.0011	0.0003	0.0009573	148	154602	rs201686349	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0	0	0	0.0016	0.0084	0	0.0002	0.0006	0.0002	0.0008	0.0008	0.0005	0.0011	0.0027	0.0007	0.0007	0.0016	0.0013	2.405e-05	0	0	0	0.0027	0.0067	0	0.0005	0.0005	0.0006	0.001	0.78490	D	0.236	0.26306	T	0.557	0.38282	P	0.215	0.37512	B	0.000224	0.47286	D	0.000000	0.938885	0.26851	N	0.69	0.16971	N	-0.87	0.74583	T	-0.51	0.15986	N	0.092	0.07125	-0.7039	0.60251	T	0.198	0.55357	T	10	0.004639566	0.00097	T	0.055358	0.66203	D	0.204	0.49076	.	.	0.796832274202	0.79494	0.21981009853643374	0.21897	0.212251864129	0.23721	0.329840302467	0.14910	T	0.005457	0.04911	T	-0.348629	0.04814	T	-0.280822	0.46720	T	0.0602743314906627	0.07212	T	0.727827	0.34232	T	0.17023857	0.37587	0.15921907	0.37143	0.17023857	0.37587	0.15921907	0.37142	-3.609	0.18553	T	.	.	0.075	0.05317	B	.;.	.;.	1.651941	0.21074	15.04	0.94290672718820201	0.24593	0.86814	0.46178	D	AEFDBHCI	0.129747	0.24803	N	-0.161973729405255	0.34726	1.985716	-0.0827423907659708	0.36103	2.096856	0.999996704616312	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.152031	0.04041	3	.	.	4.97	3.86	0.43689	-0.112000	0.10762	1.425000	0.26398	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	0.135000	0.19760	0.0:0.1009:0.0:0.8991	6.816	0.23017	141	0.94388	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1364.33	34	chr1	45344859	.	T	C	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=761;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.877;SOR=0.532	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1303	18	0	1	0
chr1	45457692	45457692	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G94A:p.V32M	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0239106135479	0.0025	0.00219649	0.0039	0.0012	0.0031	0	0.0014	0.0047	0.0022	0.0059	0.0037063	573	154602	rs139535559	0.0040	0.0040	0.0040	0.0041	0.0063	0.0040	0.0039	0.0059	0.0057	0.0005	0.0021	0.0069	2.519e-05	0.0013	0.0029	0.0043	0.0036	0.0063	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0054	0.0047	0.0008	0.0011	0.0016	0.0049	0	0.0005	0.0034	0.0042	0.0033	0.0072	0.242	0.18691	T	0.156	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.641495	0.05871	N	1.180580	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	-0.14	0.09135	N	0.113	0.12913	-0.9314	0.43933	T	0.177	0.52256	T	10	0.0035657287	0.00064	T	0.023911	0.46889	T	0.037	0.09474	.	.	0.401185642668	0.39728	0.2119062408482869	0.21106	0.199440583256	0.22341	0.291976153851	0.09211	T	0.009183	0.08373	T	-0.545465	0.00310	T	-0.553687	0.16974	T	0.00435145716154146	0.00046	T	0.658334	0.26756	T	0.02780432	0.02024	0.058193475	0.10713	0.02780432	0.02024	0.058193475	0.10712	-4.992	0.36753	T	.	.	0.089	0.12276	B	.;.	.;.	-0.002648	0.04265	1.060	0.90670885882896302	0.19922	0.01462	0.04886	N	AEFI	0.047805	0.08090	N	-1.55302367145856	0.01517	0.06624543	-1.63442238318577	0.01458	0.06597184	0.0181758768570301	0.13029	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.06	-7.33	0.01284	-0.403000	0.07275	-2.453000	0.03735	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.458000	0.28074	0.0:0.606:0.0906:0.3035	11.904	0.51982	153	0.93993	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1676.33	35	chr1	45457692	.	C	T	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.652;DP=768;ExcessHet=0;FS=2.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.033;SOR=0.905	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	18	0	1	0
chr1	45457733	45457733	C	T	exonic	TESK2	.	nonsynonymous SNV	TESK2:NM_007170:exon2:c.G53A:p.R18H	.	430	1069	22	1	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0014	0.00419329	0.0037	0.0002	0.0008	0	0	0.0014	0.0056	0.0205	0.0032276	499	154602	rs149714069	0.0026	0.0026	0.0019	0.0032	0.0209	0.0025	0.0025	0.0201	0.0198	0.0001	0.0007	0.0024	0	0	0.0064	0.0015	0.0020	0.0209	0.0016	0.0016	0.0014	0.0019	0.0199	0.0014	0.0014	0.0167	0.0155	0.0003	0.0121	0.0003	0.0046	0	0	0	0.0015	0.0019	0.0199	0.086	0.32769	T	0.031	0.54541	D	0.445	0.35971	B	0.058	0.26451	B	0.000007	0.62929	D	0.000000	0.983889	0.81001	D	1.04	0.26193	L	-0.77	0.73523	T	-1.64	0.39314	N	0.484	0.58287	-0.5083	0.68349	T	0.256	0.62609	T	10	0.0052828193	0.00115	T	.	.	.	0.183	0.45592	.	.	0.710673150413	0.70814	0.5013606746022161	0.50058	0.330047145895	0.35094	0.605308651924	0.53654	T	0.033276	0.22847	T	-0.318118	0.07053	T	-0.213474	0.53362	T	0.0204128717601628	0.00741	T	0.869413	0.57379	D	0.14839143	0.33879	0.09107235	0.21393	0.14839143	0.33879	0.09107235	0.21393	-4.474	0.30547	T	.	.	0.202	0.42578	B	.;.	.;.	4.217921	0.63779	24.6	0.99756414762243828	0.84694	0.93110	0.57353	D	AEFI	0.557622	0.56718	D	0.0284518771519918	0.43151	2.613788	0.188611535922757	0.49223	3.128045	0.00402280051686408	0.10385	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	3.311000	0.51629	5.787000	0.49843	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.418	0.90522	153	0.93993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.030303	0.02632	741.33	35	chr1	45457733	.	C	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=740;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.18;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	18	0	1	0
chr1	45495163	45495163	G	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon5:c.C334T:p.P112S,CCDC163:NM_001358407:exon5:c.C394T:p.P132S	.	427	1085	9	0	1	10	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0014	0.00539137	0.0048	0.0002	0.0031	0.0151	0.0100	0.0045	0.0033	0.0023	0.0043337	670	154602	rs41269111	0.0052	0.0052	0.0056	0.0049	0.0305	0.0051	0.0050	0.0290	0.0284	0.0003	0.0020	0.0004	0.0305	0.0112	0.0017	0.0034	0.0034	0.0026	0.0029	0.0029	0.0025	0.0033	0.0182	0.0027	0.0026	0.0152	0.0141	0.0003	0	0.0009	0.0006	0.0182	0.0097	0	0.0028	0.0038	0.0035	.	.	.	0.787	0.04234	T	.	.	.	.	.	.	.	.	.	.	1	0.21167	N	.	.	.	.	.	.	.	.	.	0.058	0.02964	-0.9987	0.30283	T	0.011	0.04369	T	7	0.0041374266	0.00081	T	.	.	.	.	.	.	.	0.139678290688	0.13603	.	.	.	.	.	.	.	.	.	.	-0.656203	0.00066	T	-0.704978	0.05558	T	0.0161007737384643	0.00388	T	0.293771	0.05407	T	0.032977376	0.03426	0.081028625	0.18381	0.032977376	0.03426	0.081028625	0.18380	-2.826	0.08425	T	.	.	0.094	0.14660	B	.	.	0.850291	0.12221	8.768	0.57033361069222743	0.05680	0.01211	0.04306	N	AEFDBI	0.024971	0.01634	N	-0.861747344038771	0.11762	0.5694302	-0.787665024047613	0.14798	0.7750697	0.00953128751066465	0.11871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.51	2.17	0.26736	0.970000	0.28980	5.237000	0.48050	-0.163000	0.11536	0.997000	0.40164	1.000000	0.68203	0.835000	0.39381	0.6947:0.202:0.1033:0.0	4.405	0.10833	165	0.93588	.	.	.	.	.	rs41269111	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	683.33	33	chr1	45495163	.	G	A	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=687;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.028;SOR=1.118	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1101	18	0	1	0
chr1	45499366	45499430	GATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAG	-	exonic	CCDC163	.	frameshift deletion	CCDC163:NM_001102601:exon2:c.92_156del:p.P31Lfs*9,CCDC163:NM_001358406:exon2:c.92_156del:p.P31Lfs*9,CCDC163:NM_001358407:exon2:c.92_156del:p.P31Lfs*9	.	417	1096	9	0	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0	0.0031	0.0133	0.0090	0.0037	0.0045	0.0016	0.0001153	3	26028	.	0.0038	0.0048	0.0040	0.0036	0.0240	0.0037	0.0036	0.0227	0.0221	0.0002	0.0008	0.0001	0.0240	0.0091	0.0012	0.0023	0.0023	0.0015	0.0028	0.0029	0.0024	0.0032	0.0179	0.0026	0.0025	0.0150	0.0139	0.0003	0	0.0009	0.0006	0.0179	0.0093	0	0.0026	0.0038	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1805.29	35	chr1	45499365	.	AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAG	A	1805.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=828;ExcessHet=0;FS=3.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.75;MQRankSum=-3.369;QD=9.81;ReadPosRankSum=-1.615;SOR=1.006	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1368	18	0	1	0
chr1	45499580	45499580	C	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon1:c.G30T:p.Q10H,CCDC163:NM_001358406:exon1:c.G30T:p.Q10H,CCDC163:NM_001358407:exon1:c.G30T:p.Q10H	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00497468085921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756488005	6.404e-06	9.542e-06	7.027e-06	5.883e-06	0.0002	1.5e-06	1.01e-06	2.29e-06	6.4e-07	0	0	0	0	0	0.0002	8.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.22	0.24634	-1.0230	0.22736	T	0.069	0.28313	T	7	0.11895102	0.22500	T	0.004975	0.12535	T	.	.	0.217	0.13788	0.171388866994	0.16791	0.09553565647196068	0.09485	.	.	.	.	.	.	.	.	-0.137641	0.30267	T	-0.435488	0.29314	T	0.509228587150574	0.32968	D	0.423058	0.11286	T	0.035792988	0.04279	0.08966557	0.20981	0.035792988	0.04279	0.08966557	0.20980	-4.383	0.29326	T	.	.	0.311	0.55313	B	.;.	.;.	1.168359	0.15580	11.95	0.97722145914521441	0.35561	0.46172	0.27701	N	AEFDBCI	0.099655	0.20055	N	-0.621315161741555	0.18304	0.949264	-0.602066211955068	0.19440	1.043	0.99999442965784	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.47417	0.07244	0	0.249971	0.05119	0	.	.	5.28	1.24	0.20416	0.419000	0.20967	0.445000	0.18464	0.599000	0.40250	0.979000	0.35152	0.995000	0.32472	0.031000	0.13245	0.0:0.4351:0.48:0.0849	8.668	0.33296	175	0.93230	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1860.33	35	chr1	45499580	.	C	A	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=858;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.693;SOR=0.959	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1368	18	0	1	0
chr1	45514602	45514602	C	G	exonic	PRDX1	.	nonsynonymous SNV	PRDX1:NM_001202431:exon5:c.G419C:p.R140P,PRDX1:NM_002574:exon5:c.G419C:p.R140P,PRDX1:NM_181696:exon5:c.G419C:p.R140P,PRDX1:NM_181697:exon5:c.G419C:p.R140P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.0357939352272	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	.	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.049103	1	0.81001	D	5.065	0.99903	H	1.31	0.35405	T	-6.81	0.93475	D	0.961	0.97095	0.315	0.87788	D	0.453	0.78627	T	10	0.92177796	0.91530	D	0.035794	0.56579	D	0.725	0.90324	0.761	0.88972	0.878521262842	0.87733	0.9139644431339315	0.91371	0.365701277882	0.38159	0.76650249958	0.76900	T	0.568159	0.86371	D	0.30087	0.83038	D	0.194402	0.82818	D	0.999652981758118	0.98346	D	0.861914	0.55630	D	0.9911237	0.99820	0.98853254	0.99967	0.9911237	0.99820	0.98853254	0.99967	-16.127	0.97945	D	.	.	0.998	0.97401	P	.;.;.;.;.	.;.;.;.;.	7.389465	0.96466	36	0.99690109800269366	0.79842	0.96841	0.71229	D	AEFDBCI	0.976325	0.99667	D	1.1372516069492	0.98767	19.30819	1.03634654526111	0.99214	21.26254	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	5.925000	0.69783	5.830000	0.50156	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.349	0.98808	207	0.91931	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;.;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain;Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	240.33	36	chr1	45514602	.	C	G	240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-0.803;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	18	0	1	0
chr1	45568525	45568525	C	T	exonic	AKR1A1	.	nonsynonymous SNV	AKR1A1:NM_153326:exon6:c.C593T:p.A198V,AKR1A1:NM_001202413:exon7:c.C593T:p.A198V,AKR1A1:NM_006066:exon7:c.C593T:p.A198V,AKR1A1:NM_001202414:exon8:c.C593T:p.A198V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0146534981302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.116	0.36497	T	0.785	0.44430	P	0.08	0.28873	B	0.000094	0.51296	D	0.202384	0.999868	0.50061	D	1.53	0.38800	L	1.47	0.31987	T	-1.58	0.38151	N	0.533	0.56145	-1.0412	0.16951	T	0.058	0.24204	T	10	0.46083897	0.59274	T	0.014653	0.34905	T	0.112	0.31546	0.446	0.50466	0.639104523021	0.63613	0.556317568097008	0.55558	0.0692720124102	0.07753	0.546603679657	0.45378	T	0.256093	0.62696	T	-0.0778914	0.40056	T	-0.349662	0.39243	T	0.797301232814789	0.46170	D	0.758824	0.38273	T	0.35858336	0.57728	0.2880627	0.54821	0.35858336	0.57728	0.2880627	0.54820	-7.124	0.54933	T	.	.	0.123	0.27161	B	.;.;.	.;.;.	2.794923	0.36749	20.3	0.99687041562039103	0.79641	0.96321	0.68567	D	AEFDBHCI	0.891676	0.82786	D	0.227917672115673	0.52555	3.429032	0.287927149866461	0.54833	3.647302	0.999860024406825	0.44398	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	3.76	0.42368	4.816000	0.62333	4.758000	0.44698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.1328:0.7395:0.1277:0.0	12.494	0.55256	200	0.92234	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	864.33	38	chr1	45568525	.	C	T	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.106;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.823;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	45584177	45584177	G	C	exonic	NASP	.	nonsynonymous SNV	NASP:NM_001195193:exon1:c.G31C:p.V11L,NASP:NM_002482:exon1:c.G31C:p.V11L,NASP:NM_152298:exon1:c.G31C:p.V11L	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0011	0.0061901	0.0089	0.0005	0.0061	0.0329	0.0324	0.0088	0.0094	0.0032	0.0037386	578	154602	rs28365868	0.0036	0.0036	0.0036	0.0035	0.0363	0.0035	0.0034	0.0348	0.0341	0.0003	0.0018	0.0004	0.0363	0.0101	0.0017	0.0024	0.0033	0.0025	0.0030	0.0030	0.0026	0.0034	0.0214	0.0028	0.0027	0.0182	0.0170	0.0003	0	0.0010	0.0006	0.0214	0.0093	0	0.0029	0.0019	0.0033	0.154	0.50676	T	0.419	0.51112	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	-0.205	0.04094	N	0.75	0.50192	T	-0.14	0.18248	N	0.249	0.35938	-1.0989	0.04227	T	0.015	0.05946	T	9	0.0021989346	0.00032	T	.	.	.	0.033	0.08068	.	.	0.229924730088	0.22615	0.25934229043646	0.25848	0.0300485160316	0.03099	0.363088935614	0.19835	T	0.012884	0.36550	T	-0.538852	0.00340	T	-0.507324	0.21590	T	0.0331594826771414	0.02498	T	0.887511	0.62170	D	0.071098186	0.15715	0.16805266	0.38735	0.071098186	0.15715	0.16805266	0.38734	-5.239	0.52171	T	.	.	0.108	0.45798	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.808899	0.36971	20.4	0.96578311849568188	0.30322	0.17456	0.19845	N	ALL	0.380458	0.46309	N	-0.718322679373107	0.15507	0.7820918	-0.557177531923536	0.20615	1.111513	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.9	1.63	0.22882	0.441000	0.21325	4.221000	0.42593	-0.142000	0.12367	0.990000	0.36992	1.000000	0.68203	0.989000	0.64315	0.7561:0.0:0.2439:0.0	5.088	0.14029	200	0.92234	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs28365868	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002541	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.003817	0.02632	1540.33	35	chr1	45584177	.	G	C	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.012;DP=740;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.242;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	45633646	45633646	C	G	exonic	GPBP1L1	.	nonsynonymous SNV	GPBP1L1:NM_021639:exon10:c.G887C:p.S296T	.	0	225	1	0	0	1	0.00221729	0.9645	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.011312631025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.439	0.13365	T	0.976	0.58310	D	0.576	0.50064	P	0.000003	0.62929	D	0.169313	0.98144	0.39777	D	2.47	0.71715	M	1.89	0.23688	T	-1.45	0.35597	N	0.381	0.43899	-1.1111	0.02977	T	0.086	0.33354	T	10	0.21375588	0.37877	T	0.011313	0.28804	T	0.130	0.35528	0.109	0.01988	0.0762999501168	0.06990	0.0700655360775902	0.06943	0.396017146282	0.40719	0.535530507565	0.43814	T	0.039992	0.25379	T	-0.144795	0.29131	T	-0.445765	0.28165	T	0.737415955268031	0.42599	D	0.713029	0.32487	T	0.16052951	0.36000	0.2229109	0.47151	0.16052951	0.35999	0.2229109	0.47150	-3.87	0.21854	T	.	.	0.074	0.05017	B	.;.	.;.	4.142322	0.62066	24.4	0.99265627107198184	0.57356	0.98999	0.89757	D	AEFBI	0.649348	0.62384	D	0.433395416729376	0.63268	4.55731	0.496322626441101	0.67746	5.125422	0.999999024030012	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	2.559000	0.45550	5.872000	0.50545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.020	0.97491	207	0.91931	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1201.33	33	chr1	45633646	.	C	G	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.225;DP=706;ExcessHet=0;FS=4.378;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.159;SOR=0.349	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr1	45803954	45803954	A	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon1:c.A59T:p.D20V,MAST2:NM_001324320:exon1:c.A59T:p.D20V,MAST2:NM_015112:exon1:c.A59T:p.D20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	0.00579073	0	0	.	.	.	0	0	0	0.0021131	55	26028	rs374873750	0.0037	0.0028	0.0038	0.0036	0.0442	0.0036	0.0036	0.0421	0.0412	0.0005	0.0015	0.0004	0.0442	0.0097	0.0024	0.0022	0.0027	0.0022	0.0029	0.0029	0.0024	0.0034	0.0199	0.0027	0.0026	0.0168	0.0156	0.0003	0	0.0010	0.0006	0.0199	0.0093	0	0.0027	0.0019	0.0038	0.002	0.72154	D	0.307	0.19908	T	0.994	0.66517	D	0.987	0.77487	D	.	.	.	.	0.999706	0.48635	D	1.39	0.34934	L	-0.02	0.62918	T	-0.15	0.09297	N	0.31	0.34981	-0.6891	0.60950	T	0.241	0.60953	T	9	0.0069071352	0.00157	T	.	.	.	0.249	0.55752	0.16	0.06396	0.683625273122	0.68092	0.2168538981102643	0.21601	0.317324952291	0.33977	0.924408376217	0.98640	D	0.007029	0.06451	T	-0.235145	0.15974	T	-0.0733013	0.65390	T	0.301133530228204	0.25051	T	0.639136	0.25234	T	0.16075072	0.36038	0.33545047	0.59359	0.16075072	0.36038	0.33545047	0.59358	-3.317	0.13958	T	.	.	0.140	0.30634	B	.	.	3.838854	0.55534	23.6	0.90729797003299484	0.19980	0.37953	0.25878	N	AEFBHCI	0.110044	0.21836	N	0.121514821608166	0.47469	2.972076	0.0247683002423151	0.40868	2.445919	0.999999109871936	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.231153	0.04653	2	0.492483	0.08430	1	.	.	2.62	2.62	0.30337	1.259000	0.32559	9.279000	0.79698	0.703000	0.85290	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	1.0:0.0:0.0:0.0	7.106	0.24541	119	0.95208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	145.84	1	chr1	45803954	.	A	T	145.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.465;DP=131;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.045;MLEAC=1;MLEAF=0.026;MQ=52.37;MQRankSum=-0.566;QD=20.83;ReadPosRankSum=0;SOR=1.108	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,161	18	0	1	0
chr1	46260841	46260841	T	C	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon7:c.T52C:p.W18R,RAD54L:NM_003579:exon7:c.T592C:p.W198R,RAD54L:NM_001142548:exon8:c.T592C:p.W198R	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.968	0.375436996352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.113722	1	0.81001	D	2.12	0.58754	M	-3.14	0.92884	D	-12.16	0.99666	D	0.932	0.93723	0.958	0.96512	D	0.876	0.95881	D	10	0.9514583	0.94484	D	0.375437	0.92847	D	0.968	0.99597	0.818	0.93195	0.994288837492	0.99422	0.9054711851707552	0.90520	0.791941562005	0.65833	0.928797125816	0.98918	D	0.813583	0.95807	D	0.492933	0.94082	D	0.470287	0.94005	D	0.999510884284973	0.97717	D	0.969603	0.89085	D	0.96993524	0.98254	0.9553255	0.98712	0.96993524	0.98254	0.9553255	0.98713	-12.701	0.88094	D	.	.	0.997	0.96728	P	.;.;.;.;.	.;.;.;.;.	5.138159	0.86009	28.8	0.99653338829813343	0.77442	0.99619	0.98049	D	AEFGBI	0.905479	0.85705	D	0.857296276787886	0.89519	10.00544	0.81838934131404	0.91042	10.68999	0.999999927300341	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	8.017000	0.88732	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.909	0.79247	108	0.95573	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain;SNF2-related, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1790.33	40	chr1	46260841	.	T	C	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.577;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	18	0	1	0
chr1	46278118	46278118	C	A	exonic	RAD54L	.	nonsynonymous SNV	RAD54L:NM_001370766:exon18:c.C1540A:p.P514T,RAD54L:NM_003579:exon18:c.C2080A:p.P694T,RAD54L:NM_001142548:exon19:c.C2080A:p.P694T	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic	0	1513	9	0	0	9	0.0029654	.	.	.	2447856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.272	0.0288458244489	.	.	4.201e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	.	1.574e-05	1.573e-05	6.807e-06	2.476e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0003	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.006	0.61437	D	0.029	0.54541	D	0.013	0.16609	B	0.004	0.10090	B	0.000060	0.53742	D	0.168441	0.999999	0.58761	D	2.405	0.69568	M	-0.87	0.74583	T	-5.09	0.82961	D	0.176	0.18920	-0.3401	0.73841	T	0.395	0.74800	T	10	0.14288548	0.27134	T	0.028846	0.51459	D	0.272	0.58758	0.19	0.10039	0.837877059833	0.83633	0.38956006309667657	0.38871	0.147929018755	0.16687	0.323596417904	0.13966	T	0.492699	0.81655	T	-0.262282	0.12634	T	-0.304008	0.44300	T	0.270507655963563	0.23769	T	0.90421	0.66396	D	0.51673156	0.68071	0.38485014	0.63416	0.51673156	0.68072	0.38485014	0.63416	-8.616	0.65195	D	.	.	0.081	0.08081	B	.;.	.;.	2.398842	0.30815	18.55	0.98467446113376067	0.41814	0.92367	0.55547	D	AEFDBHCI	0.141080	0.26316	N	0.0187865697409218	0.42710	2.578521	0.132570310210368	0.46225	2.871973	0.999807336873412	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.16	4.21	0.48984	0.974000	0.29033	0.681000	0.20681	0.599000	0.40250	0.912000	0.31733	0.343000	0.24433	0.969000	0.54022	0.0:0.8638:0.1362:0.0	17.196	0.86775	101	0.95833	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1549.33	33	chr1	46278118	.	C	A	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=777;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.076;SOR=0.521	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1455	18	0	1	0
chr1	46346972	46346972	G	T	exonic	NSUN4	.	nonsynonymous SNV	NSUN4:NM_001256127:exon3:c.G342T:p.L114F,NSUN4:NM_001256128:exon3:c.G342T:p.L114F,NSUN4:NM_199044:exon3:c.G489T:p.L163F	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0166574511639	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs774016496	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.011	0.55530	D	0.02	0.61642	D	0.902	0.49745	P	0.542	0.48916	P	0.000062	0.52346	D	0.124501	0.999917	0.51042	D	1.375	0.34280	L	2.05	0.20664	T	-2.47	0.55025	N	0.51	0.54757	-1.0051	0.28427	T	0.033	0.14290	T	10	0.2486623	0.42166	T	0.016657	0.38021	T	0.201	0.48592	0.584	0.71118	0.377976839388	0.37411	0.3724684190932308	0.37160	0.986146915518	0.73913	0.601536273956	0.53121	T	0.06019	0.31320	T	-0.298632	0.08789	T	-0.392441	0.34266	T	0.5347820520401	0.33911	D	0.928707	0.74506	D	0.77276057	0.82213	0.5315613	0.72933	0.77276057	0.82215	0.5315613	0.72933	-9.179	0.68842	D	.	.	0.383	0.63281	A	.;.	.;.	3.926387	0.57362	23.8	0.99890716821257342	0.96513	0.90926	0.52524	D	AEFBI	0.252688	0.37232	N	-0.0573346308277438	0.39275	2.313477	0.0368822588352654	0.41443	2.48981	0.999690974442668	0.41870	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	4.22	0.49153	1.611000	0.36490	4.847000	0.45339	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1513:0.1792:0.539:0.1305	2.971	0.05560	95	0.96074	SAM-dependent methyltransferase RsmB/NOP2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1643.33	33	chr1	46346972	.	G	T	1643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=747;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.93;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	18	0	1	0
chr1	46405737	46405737	G	A	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon5:c.G728A:p.R243H	.	401	1118	3	0	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.462428232126	0.0010	0.000798722	0.0009	0.0003	0.0003	0	0.0005	0.0011	0	0.0017	0.0008732	135	154602	rs114795065	0.0015	0.0015	0.0015	0.0015	0.0018	0.0014	0.0014	0.0016	0.0016	0.0003	0.0003	7.652e-05	0	0.0003	0	0.0017	0.0012	0.0018	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0003	0	0	0.0002	0	0.0012	0.0005	0.0017	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.335	0.98404	H	-1.61	0.82254	D	-4.39	0.77225	D	0.961	0.97095	0.979	0.96850	D	0.830	0.94281	D	10	0.61599773	0.67709	D	0.462428	0.94537	D	0.948	0.98990	.	.	.	.	0.9485317088947635	0.94836	1.19142493621	0.80287	0.642395973206	0.58904	T	0.503788	0.82313	D	0.135143	0.67860	D	0.39672	0.92006	D	0.236844515338403	0.22273	T	0.969503	0.89043	D	0.980602	0.99155	0.9083343	0.95570	0.980602	0.99155	0.9083343	0.95570	-10.728	0.78145	D	.	.	0.899	0.82674	P	.	.	5.358666	0.89874	31	0.9995874376773829	0.99990	0.98278	0.81195	D	AEFDBI	0.930498	0.91789	D	0.946169738867324	0.93831	12.30762	0.810706251986639	0.90530	10.44847	0.999999999999325	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.33	4.33	0.51083	6.875000	0.75352	8.683000	0.78050	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	17.016	0.86291	94	0.96106	Amidase signature domain|Amidase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1087.33	35	chr1	46405737	.	G	A	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=743;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.006;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1274	18	0	1	0
chr1	46512124	46512124	C	T	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon4:c.C779T:p.P260L,DMBX1:NM_172225:exon6:c.C764T:p.P255L	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.328052654912	.	.	2.478e-05	0	0	0	0	4.514e-05	0	0	1.94e-05	3	154602	rs760128987	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	2.521e-05	0	0	0	2.519e-05	5.624e-05	0.0003	2.968e-05	3.311e-05	0	1.972e-05	1.97e-05	1.285e-05	2.692e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.665	0.42610	L	-4.11	0.99016	D	-3.72	0.70793	D	0.789	0.78641	1.093	0.99353	D	0.957	0.98619	D	10	0.8715149	0.86420	D	0.328053	0.91670	D	0.753	0.91541	.	.	0.910276785103	0.90937	0.61497655632864	0.61429	1.13496144327	0.78752	0.865817427635	0.91965	D	0.598922	0.87117	D	0.227484	0.76484	D	0.152634	0.80351	D	0.991712808609009	0.82049	D	0.962404	0.85901	D	0.52124417	0.68331	0.6343979	0.78660	0.52124417	0.68332	0.6343979	0.78661	-8.567	0.65320	D	.	.	0.954	0.89681	P	.;.	.;.	5.363238	0.89935	31	0.99741489189470467	0.83555	0.97647	0.76137	D	AEFDBI	0.923436	0.89992	D	0.624620118193208	0.74736	6.18345	0.597188615174234	0.74737	6.188268	0.999985359111911	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.530356	0.10902	0	.	.	5.02	4.11	0.47350	7.771000	0.84203	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.9202:0.0:0.0798	12.807	0.57003	85	0.96447	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1119.33	38	chr1	46512124	.	C	T	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=772;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.31;SOR=0.616	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1133,0,1509	18	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	119.19	186	chr1	46613215	.	G	C	119.19	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.95;DP=2309;ExcessHet=0.119;FS=110.979;InbreedingCoeff=-0.2116;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.01;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:87,0:87:0:.:.:0,0,1373:.	8	0	2	9
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.02632	1870.33	143	chr1	46673263	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.474;DP=1392;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.03;SOR=0.908	GT:AD:DP:GQ:PL	0/0:155,0:155:99:0,120,1800	18	0	1	0
chr1	46814021	46814021	C	T	exonic	CYP4B1	.	nonsynonymous SNV	CYP4B1:NM_001319162:exon4:c.C244T:p.R82C,CYP4B1:NM_001319163:exon4:c.C241T:p.R81C,CYP4B1:NM_001319161:exon5:c.C688T:p.R230C,CYP4B1:NM_000779:exon6:c.C730T:p.R244C,CYP4B1:NM_001099772:exon6:c.C733T:p.R245C	.	418	1103	1	0	0	1	0.000453104	.	.	.	3236373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.0644957156563	.	.	0.0002	0	8.637e-05	0	0	7.498e-05	0.0011	0.0011	0.0001617	25	154602	rs758555438	0.0001	0.0001	5.99e-05	0.0002	0.0013	9.199e-05	8.664e-05	0.0011	0.0011	0	2.236e-05	0	0	0	0.0007	2.698e-05	9.935e-05	0.0013	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.411e-05	0	0.0019	0.145	0.26409	T	0.146	0.39340	T	0.231	0.31830	B	0.073	0.32230	B	0.000670	0.42516	N	0.278448	0.996204	0.43074	D	3.205	0.89189	M	-0.63	0.72011	T	-4.87	0.81269	D	0.515	0.55193	-0.4815	0.69313	T	0.363	0.72422	T	10	0.10228345	0.18739	T	0.064496	0.69294	D	0.344	0.66582	0.697	0.83406	0.647335815468	0.64441	0.44285067519244264	0.44202	0.131084582138	0.14785	0.380169510841	0.22281	T	0.191486	0.70082	T	-0.311874	0.07584	T	-0.271203	0.47699	T	0.220459793550532	0.21487	T	0.413959	0.41780	T	0.4036073	0.60982	0.28589255	0.54594	0.4036073	0.60982	0.28589255	0.54593	-8.83	0.67446	D	.	.	0.215	0.46893	B	.;.;.;.;.	.;.;.;.;.	2.356136	0.30215	18.37	0.97462589315797488	0.34090	0.14713	0.18547	N	AEFBI	0.057728	0.10777	N	-0.402412613510692	0.25384	1.377574	-0.424787796915504	0.24273	1.328243	1.40970644386495E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	3.21	0.35933	0.822000	0.27007	1.759000	0.28538	-0.255000	0.07062	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	0.0:0.7702:0.0:0.2298	8.926	0.34801	259	0.89842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	36	chr1	46814021	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=880;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.46;SOR=0.876	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr1	46934102	46934102	A	G	exonic	CYP4A11	.	nonsynonymous SNV	CYP4A11:NM_001363587:exon7:c.T772C:p.C258R	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000899209928536	.	.	9.015e-05	0	0	0	0	5.44e-05	0	0.0004	3.84e-05	1	26028	rs781516826	4.796e-05	4.857e-05	2.862e-05	6.75e-05	0.0009	3.866e-05	3.545e-05	0.0003	0.0003	2.993e-05	2.257e-05	0	0	0	0.0009	1.98e-05	4.975e-05	0.0004	1.977e-05	1.971e-05	2.576e-05	1.35e-05	0.0002	5.26e-06	2.46e-06	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0002	.	.	.	0.572	0.08746	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.07159689	0.10576	T	8.99E-4	0.00844	T	.	.	.	.	0.50727153398	0.50365	.	.	.	.	.	.	.	.	.	.	-0.688447	0.00043	T	-0.90861	0.00444	T	.	.	.	0.239776	0.03423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34272	B	.	.	0.191591	0.05775	2.219	0.39900842283918209	0.02782	0.00179	0.01050	N	AEFDI	.	.	.	.	.	.	.	.	.	3.39496819867131E-4	0.06583	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	4.7	-5.04	0.02742	-1.620000	0.02148	-20.000000	0.00162	-0.097000	0.15994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3551:0.3518:0.293:0.0	5.997	0.18729	591	0.68823	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1822.33	35	chr1	46934102	.	A	G	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.795;DP=874;ExcessHet=0;FS=5.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.93;MQRankSum=-2.219;QD=14.02;ReadPosRankSum=1.44;SOR=0.859	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1518	18	0	1	0
chr1	46934272	46934272	G	A	exonic	CYP4A11	.	nonsynonymous SNV	CYP4A11:NM_000778:exon8:c.C992T:p.S331F,CYP4A11:NM_001319155:exon8:c.C896T:p.S299F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.0861899954747	0.0008	.	0.0009	0.0002	0.0021	0	0	0.0010	0.0045	0.0004	0.000718	111	154602	rs141672858	0.0010	0.0010	0.0011	0.0010	0.0016	0.0010	0.0010	0.0012	0.0011	0.0001	0.0011	0.0003	2.52e-05	7.493e-05	0.0016	0.0012	0.0012	0.0005	0.0005	0.0006	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0003	0.0009	0	0	0	0.0010	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000005	0.62929	D	0.110212	0.999972	0.81001	D	4.405	0.98666	H	-0.45	0.69896	T	-5.19	0.83625	D	0.894	0.89353	0.355	0.88422	D	0.565	0.84226	D	10	0.75245	0.75737	D	0.08619	0.74686	D	0.805	0.93660	.	.	0.9037212576	0.90276	0.6734495254267416	0.67282	0.327512791285	0.34889	0.481553554535	0.36271	T	0.613794	0.87798	D	0.0781285	0.61820	D	0.289009	0.87611	D	0.225469825966524	0.21734	T	0.940706	0.78893	D	0.9465529	0.95915	0.92099816	0.96469	0.9465529	0.95915	0.92099816	0.96469	-12.882	0.88871	D	.	.	0.907	0.83245	P	.;.;.	.;.;.	4.483929	0.69979	25.5	0.99811403654616593	0.89531	0.97977	0.78580	D	AEFGI	0.861744	0.77988	D	0.750289702748649	0.82922	7.884476	0.65726366958837	0.79152	7.022477	0.0944489511638022	0.16205	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	4.3	0.50540	6.719000	0.74533	3.839000	0.40032	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.1347:0.8653:0.0	16.054	0.80587	591	0.68823	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001104	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2347.33	35	chr1	46934272	.	G	A	2347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.178;DP=1088;ExcessHet=0;FS=2.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.73;MQRankSum=-0.654;QD=13.81;ReadPosRankSum=0.223;SOR=0.806	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1518	18	0	1	0
chr1	47082450	47082450	C	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon4:c.C481T:p.R161W	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00998749889768	7.7e-05	.	0.0003	0	0	0	0	0.0001	0	0.0017	0.0002135	33	154602	rs375669698	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	4.511e-05	0	2.522e-05	0	0.0007	4.861e-05	0.0002	0.0016	7.881e-05	7.874e-05	6.425e-05	9.403e-05	0.0008	4.495e-05	3.511e-05	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	7.35e-05	0.0009	0.0008	0.003	0.68238	D	0.01	0.65728	D	0.999	0.77913	D	0.918	0.65394	D	0.787291	0.06690	U	1.314060	1	0.08975	N	1.965	0.53209	M	-0.5	0.70480	T	-4.64	0.79316	D	0.183	0.19861	-0.4754	0.69534	T	0.401	0.75252	T	10	0.03959623	0.02461	T	0.009987	0.25990	T	0.191	0.46948	.	.	0.713184890557	0.71067	0.2630129872147237	0.26214	1.70680105471	0.90386	0.693136453629	0.66157	T	0.177184	0.52739	T	-0.44043	0.01286	T	-0.440802	0.28718	T	0.176639470034052	0.19021	T	0.607939	0.22935	T	0.2256838	0.45234	0.27344483	0.53263	0.2256838	0.45234	0.27344483	0.53262	-7.269	0.55975	T	.	.	0.142	0.31177	B	.	.	0.153849	0.05455	1.925	0.99080296334182405	0.51954	0.00300	0.01598	N	AEFI	0.040317	0.05980	N	-0.569253177714703	0.19884	1.044131	-0.918758243901703	0.11652	0.5949118	5.92829220640263E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.562822	0.20929	0	.	.	2.4	-4.81	0.02948	-0.444000	0.06926	-2.639000	0.03520	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.738:0.151:0.0:0.1111	7.861	0.28670	536	0.73233	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001592	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1775.33	33	chr1	47082450	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.21;MQRankSum=-1.597;QD=11.17;ReadPosRankSum=1.65;SOR=0.704	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	253	0.90069	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.1053	12346.4	33	chr1	47148753	.	C	T	12346.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.19;DP=1681;ExcessHet=0.0101;FS=3.342;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=57.02;MQRankSum=-3.75;QD=17.61;ReadPosRankSum=0.773;SOR=0.964	GT:AD:DP:GQ:PL	0/1:137,122:259:99:3036,0,5317	16	1	2	0
chr1	47439162	47439162	-	CGGGCC	exonic	FOXD2	.	nonframeshift insertion	FOXD2:NM_004474:exon1:c.1027_1028insCGGGCC:p.P349_A350insGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486092771	8.801e-05	8.483e-05	6.844e-05	0.0001	0.0007	7.448e-05	6.931e-05	0.0005	0.0004	0	0	0	3.604e-05	0	0.0003	6.156e-05	5.599e-05	0.0007	7.935e-05	7.886e-05	5.173e-05	0.0001	0.0006	4.524e-05	3.533e-05	0.0002	9.036e-05	7.265e-05	0	0.0002	0	0	0	0	4.436e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	75.29	42	chr1	47439162	.	T	TCGGGCC	75.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=659;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=0.217;SOR=1.034	GT:AD:DP:GQ:PL	0/0:36,0:36:84:0,84,1260	18	0	1	0
chr1	50418864	50418864	C	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G1430A:p.S477N	.	420	1088	13	1	0	15	0.00684619	.	.	.	1328071	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.131	.	0.0060	0.00299521	0.0114	0.004	0.0099	0	0.0131	0.0161	0.0090	0.0055	0.005084	786	154602	rs200890998	0.0097	0.0094	0.0097	0.0096	0.0111	0.0095	0.0095	0.0109	0.0108	0.0016	0.0065	0.0018	6.051e-05	0.0056	0.0111	0.0111	0.0093	0.0034	0.0066	0.0066	0.0069	0.0063	0.0107	0.0063	0.0061	0.0100	0.0098	0.0018	0	0.0071	0.0006	0.0002	0.0062	0.0034	0.0107	0.0099	0.0012	0.234	0.18061	T	0.45	0.12957	T	0.895	0.49247	P	0.191	0.36391	B	0.000009	0.62929	D	0.104838	0.998686	0.45275	D	0.55	0.14455	N	1.43	0.32958	T	-0.76	0.21215	N	0.431	0.47022	-1.0643	0.10713	T	0.027	0.11441	T	10	0.008152574	0.00185	T	.	.	.	0.131	0.35738	.	.	0.0611884634855	0.05136	0.4308018187570468	0.42997	.	.	0.931823134422	0.99087	D	0.023299	0.17808	T	-0.563435	0.00242	T	-0.571724	0.15292	T	0.0175169502765856	0.00486	T	0.60444	0.22695	T	0.2641334	0.49479	0.2745531	0.53384	0.2641334	0.49479	0.2745531	0.53382	-6.221	0.48093	T	.	.	0.481	0.63694	A	.;.	.;.	3.696135	0.52685	23.3	0.98581307962543507	0.43245	0.99116	0.91460	D	AEFDBHCIJ	0.850198	0.76702	D	-0.145272655003515	0.35435	2.035378	-0.0832051784643177	0.36083	2.095494	0.999999999245227	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.16	4.16	0.48138	5.347000	0.65768	7.406000	0.58608	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:1.0:0.0:0.0	15.418	0.74714	560	0.71333	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009734	0.016129	0.015027	0.000000	0.050000	0.000000	0.006329	0.018939	0.02632	849.33	37	chr1	50418864	.	C	T	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.095;DP=729;ExcessHet=0;FS=13.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.067;SOR=1.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr1	50419077	50419077	A	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.T1217A:p.L406Q	.	338	1164	19	1	0	21	0.00893997	.	.	.	1328078	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	.	.	.	0.0033	0	0	0	.	0.0217	0	0.0019	0.0002135	33	154602	rs184374125	0.0035	0.0030	0.0035	0.0036	0.0122	0.0035	0.0034	0.0091	0.0080	0.0004	0.0051	0.0022	0	0.0003	0.0122	0.0037	0.0042	0.0032	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0008	0	0.0035	0.0017	0	0.0004	0.0139	0.0040	0.0058	0.0025	0.215	0.19293	T	0.575	0.08654	T	0.968	0.56581	D	0.452	0.46163	P	0.096254	0.20085	N	0.261257	0.605196	0.30907	N	1.24	0.30952	L	1.46	0.32238	T	0.47	0.03090	N	0.325	0.36569	-1.1222	0.02197	T	0.003	0.00994	T	10	0.006879717	0.00156	T	.	.	.	0.098	0.28162	.	.	0.386234084001	0.38240	0.48112459390252194	0.48032	.	.	0.894849002361	0.95850	D	0.013539	0.11689	T	-0.46439	0.00922	T	-0.439985	0.28810	T	0.0531151546423992	0.06039	T	0.561144	0.19645	T	0.19138479	0.40763	0.24172303	0.49576	0.19138479	0.40763	0.24172303	0.49575	-5.351	0.40445	T	.	.	0.085	0.14431	B	.;.	.;.	2.922365	0.38803	20.8	0.9423790608236714	0.24499	0.94754	0.62215	D	AEFDBCI	0.413626	0.48322	N	-0.0920958920621304	0.37738	2.199965	-0.0951735304783025	0.35588	2.060809	0.998556655596953	0.37186	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	3.19	0.35720	1.171000	0.31505	8.183000	0.76780	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	1.0:0.0:0.0:0.0	10.118	0.41774	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017751	0.014286	0.044444	0.000000	0.000000	0.000000	0.021127	0.017241	0.07895	1280.79	23	chr1	50419077	.	A	T	1280.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.918;DP=540;ExcessHet=0.3672;FS=0.762;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.766;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,18:31:99:0|1:50419077_A_T:522,0,354:50419077	16	0	3	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:30:90:1|1:50419077_A_T:1129,1129,1129:50419077	11	0	8	0
chr1	51118793	51118793	C	T	exonic	C1orf185	.	stopgain	C1orf185:NM_001136508:exon3:c.C250T:p.Q84X	.	465	1049	7	1	0	9	0.00427148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0056	0.0037	0	0	0.0006	0.0055	0	0.0084	0.001837	284	154602	rs184105748	0.0075	0.0074	0.0075	0.0076	0.0085	0.0074	0.0073	0.0083	0.0083	0.0013	0.0038	0.0013	3.016e-05	0.0005	0.0032	0.0085	0.0082	0.0069	0.0050	0.0050	0.0055	0.0045	0.0082	0.0047	0.0046	0.0076	0.0074	0.0017	0.0011	0.0050	0.0014	0	0.0006	0	0.0082	0.0057	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	0.117705	0.19142	N	0.278962	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.239	0.27554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244653	0.78099	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	6.746823	0.95677	35	0.99827579865250016	0.90939	0.34796	0.25152	N	AEFBI	0.045155	0.07351	N	0.658891595955793	0.76947	6.580961	0.383104785501426	0.60524	4.240833	0.00366378266333634	0.10226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.44	4.44	0.53164	3.110000	0.50045	2.842000	0.35086	0.549000	0.26987	0.256000	0.24909	0.251000	0.23919	0.560000	0.30412	0.0:1.0:0.0:0.0	13.300	0.59754	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005076	0.000000	0.000000	0.004464	0.000000	0.045455	0.000000	0.027778	0.02632	578.33	35	chr1	51118793	.	C	T	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.383;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	18	0	1	0
chr1	52028605	52028605	G	C	exonic	TXNDC12	.	nonsynonymous SNV	TXNDC12:NM_015913:exon3:c.C184G:p.H62D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.0715064213812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.19	0.88972	M	0.64	0.52867	T	-8.72	0.97670	D	0.966	0.97643	-0.2568	0.76174	T	0.364	0.72460	T	10	0.97410494	0.97109	D	0.071506	0.71286	D	0.704	0.89376	0.911	0.98230	0.799838189349	0.79797	0.9728267744604489	0.97271	1.36873852786	0.84485	0.872190654278	0.92880	D	0.229648	0.59552	T	0.336408	0.85595	D	0.24545	0.85406	D	0.999423623085022	0.97351	D	0.905209	0.66592	D	0.95403016	0.96676	0.93610364	0.97509	0.95403016	0.96676	0.93610364	0.97510	-14.006	0.93075	D	.	.	0.996	0.95832	P	.	.	4.960215	0.82006	27.7	0.99400465475260924	0.62794	0.98682	0.85525	D	AEFDGBI	0.893002	0.83050	D	0.930430023163355	0.93168	11.86502	0.885220496955778	0.94895	13.13366	0.999999999999004	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	8.126000	0.89466	11.781000	0.96113	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.782	0.88438	459	0.78817	Thioredoxin, conserved site|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	35	chr1	52028605	.	G	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=707;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.25;SOR=1.001	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	18	0	1	0
chr1	52239068	52239068	T	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.T1651G:p.C551G,ZFYVE9:NM_007324:exon4:c.T1651G:p.C551G	.	426	1095	1	0	0	1	0.000456413	.	.	.	2334350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.00587361716654	0.0004	0.000399361	0.0004	0.0002	0.0007	0.0001	0	0.0005	0.0033	0	0.0003946	61	154602	rs145100186	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0014	0.0005	0	0	0.0031	0.0004	0.0008	0	0.0006	0.0006	0.0006	0.0007	0.0026	0.0005	0.0005	0.0020	0.0017	0.0005	0	0.0026	0.0009	0.0002	0	0.0068	0.0004	0.0014	0	0.003	0.68238	D	0.563	0.12037	T	0.0	0.07471	B	0.0	0.08700	B	0.005230	0.32979	N	0.259961	0.815982	0.34707	D	1.04	0.26193	L	0.95	0.47477	T	-2.89	0.60665	D	0.552	0.68429	-1.0226	0.22866	T	0.088	0.34078	T	10	0.028939903	0.01023	T	0.005874	0.15281	T	0.180	0.45073	.	.	0.295226631146	0.29124	0.22499928597186308	0.22414	0.131608955516	0.14841	0.433586120605	0.29699	T	0.064005	0.32323	T	-0.352341	0.04581	T	-0.324442	0.42086	T	0.0291299666350597	0.01858	T	0.732227	0.34774	T	0.4153595	0.61781	0.41406152	0.65561	0.4153595	0.61782	0.41406152	0.65561	-2.249	0.04285	T	.	.	0.083	0.31658	B	.;.;.	.;.;.	2.602178	0.33775	19.44	0.89032396887040244	0.18455	0.68114	0.33680	D	AEFDGBCI	0.346475	0.44128	N	-0.364098601511496	0.26757	1.46276	-0.192747101630959	0.31802	1.803206	0.999999933993586	0.74766	0.706298	0.61202	0	0.681609	0.65952	0	0.709663	0.75317	0	0.654926	0.60358	0	.	.	5.93	2.1	0.26226	2.081000	0.41220	3.520000	0.38893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0667:0.2575:0.6757	7.963	0.29242	336	0.86165	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1442.33	35	chr1	52239068	.	T	G	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.942;DP=728;ExcessHet=0;FS=3.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.321;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr1	52354897	52354897	C	T	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon22:c.G2282A:p.R761Q,CC2D1B:NM_032449:exon22:c.G2300A:p.R767Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	3292198	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.00858312590176	.	.	0.0002	0.0002	0	0	0.0002	7.492e-05	0	0.0012	0.0001876	29	154602	rs768400113	0.0001	0.0001	9.256e-05	0.0001	0.0010	0.0001	9.633e-05	0.0008	0.0008	5.974e-05	0	0	0	3.744e-05	0.0002	6.115e-05	0.0001	0.0010	3.944e-05	3.94e-05	3.854e-05	4.038e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.989e-05	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0006	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	1.71	0.26737	T	-3.83	0.72120	D	0.829	0.86191	-0.6952	0.60666	T	0.215	0.57652	T	10	0.55646604	0.64545	D	0.008583	0.22680	T	0.518	0.79461	.	.	0.59105502098	0.58781	0.6389303756603245	0.63827	0.23410116099	0.25944	0.654554188251	0.60632	T	0.396933	0.75543	T	-0.0620603	0.42585	T	0.0525733	0.73754	D	0.616814374923706	0.37076	D	0.985701	0.96302	D	0.6450367	0.75099	0.5828329	0.75815	0.6450367	0.75100	0.5828329	0.75816	-10.691	0.77936	D	.	.	0.671	0.74667	P	.;.	.;.	6.200347	0.94779	34	0.99956444390763921	0.99981	0.97518	0.75271	D	AEFDBCI	0.883249	0.81200	D	0.934397011319063	0.93340	11.97484	0.901684505402207	0.95646	13.82421	0.999999999996017	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	7.497000	0.80382	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.914	0.97044	353	0.85335	C2 domain|C2 domain|Freud, C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1976.33	36	chr1	52354897	.	C	T	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=871;ExcessHet=0;FS=1.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.887;SOR=0.835	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	52357855	52357855	C	T	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon14:c.G1505A:p.R502Q,CC2D1B:NM_032449:exon14:c.G1523A:p.R508Q	.	.	.	.	.	.	.	.	.	.	.	4115975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.0096058816662	.	.	8.877e-06	0	0	0	0	0	0	9.388e-05	6.5e-06	1	154602	rs777052462	2.58e-05	2.941e-05	1.384e-05	3.792e-05	0.0004	1.903e-05	1.662e-05	0.0002	0.0001	0	0	0	0	0	0.0004	1.272e-05	3.381e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.12996	B	0.0	0.04355	B	0.124001	0.18897	N	0.565353	1	0.81001	D	-2.25	0.00109	N	1.38	0.34050	T	0.93	0.01551	N	0.146	0.14763	-1.0592	0.11956	T	0.026	0.11043	T	10	0.022866994	0.00582	T	0.009606	0.25130	T	0.040	0.10527	0.19	0.10039	0.287603790349	0.28378	0.13300774292937942	0.13224	0.0300541279778	0.03099	0.20254984498	0.00534	T	2.5E-4	0.00056	T	-0.440448	0.01286	T	-0.591014	0.13578	T	0.0142567609181737	0.00282	T	0.717128	0.34485	T	0.011344288	0.00016	0.024062969	0.00421	0.011344288	0.00016	0.024062969	0.00421	-2.035	0.04362	T	.	.	0.058	0.01059	B	.;.	.;.	1.225225	0.16193	12.38	0.22750258886402247	0.00930	0.15169	0.18778	N	AEFDBCI	0.034418	0.04260	N	-0.973885580834458	0.09164	0.4325936	-0.778253725107543	0.15029	0.7883225	0.0399471365878009	0.14416	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	2.99	0.33673	2.804000	0.47628	3.448000	0.38427	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.1603:0.0:0.8397	6.78	0.22825	355	0.85216	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	2998.81	34	chr1	52357855	.	C	T	2998.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.6;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	1	0	0
chr1	52397762	52397762	C	T	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon4:c.G325A:p.A109T,ORC1:NM_001190819:exon4:c.G325A:p.A109T,ORC1:NM_004153:exon4:c.G325A:p.A109T	Meier-Gorlin syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1327528	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0182369587672	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs780169538	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0002	1.99e-06	1.28e-06	.	.	0	2.236e-05	0	0	0	0.0002	8.993e-07	6.623e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0.0005	0	0.234	0.18061	T	0.312	0.19599	T	0.024	0.19075	B	0.064	0.27215	B	0.003604	0.34713	N	0.338090	1	0.08975	N	1.67	0.42885	L	0.97	0.42502	T	-0.83	0.22727	N	0.147	0.15328	-1.0327	0.19586	T	0.067	0.27537	T	10	0.08355966	0.13912	T	0.018237	0.40237	T	0.045	0.12272	0.35	0.34760	0.40146981186	0.39757	0.36070192394847067	0.35984	0.173787969131	0.19568	0.255357295275	0.04354	T	0.290825	0.66359	T	-0.327831	0.06277	T	-0.625818	0.10733	T	0.115247942507267	0.13960	T	0.636336	0.25008	T	0.04107644	0.05984	0.057838287	0.10586	0.04107644	0.05984	0.057838287	0.10586	-4.3	0.28177	T	0.26019203557515763	0.35140	0.075	0.05535	B	.;.	.;.	1.581453	0.20234	14.65	0.9925746293147556	0.57088	0.13279	0.17766	N	AEFBCI	0.042915	0.06719	N	-0.822695903507907	0.12731	0.6224708	-0.811417687105938	0.14219	0.7418348	0.683724793627119	0.22510	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.24	1.19	0.20120	0.660000	0.24691	0.047000	0.13948	0.454000	0.21428	0.025000	0.20085	0.000000	0.08366	0.988000	0.63387	0.1241:0.4171:0.2422:0.2165	1.992	0.03238	329	0.86514	Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain;Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1598.33	34	chr1	52397762	.	C	T	1598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.658;DP=772;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.294;SOR=0.847	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	18	0	1	0
chr1	52402167	52402167	C	G	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon2:c.G57C:p.R19S,ORC1:NM_001190819:exon2:c.G57C:p.R19S,ORC1:NM_004153:exon2:c.G57C:p.R19S	Meier-Gorlin syndrome 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	249981	not_provided|not_specified|ORC1-related_disorder|Meier-Gorlin_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00517856032185	0.0056	0.00179712	0.0041	0.0013	0.0004	0	0.0032	0.0068	0.0055	0.0003	0.0044178	683	154602	rs3087473	0.0070	0.0070	0.0073	0.0067	0.0086	0.0069	0.0068	0.0085	0.0084	0.0014	0.0020	0.0004	0	0.0031	0	0.0086	0.0053	0.0003	0.0045	0.0045	0.0050	0.0039	0.0078	0.0042	0.0041	0.0073	0.0071	0.0014	0.0197	0.0026	0.0003	0	0.0018	0	0.0078	0.0052	0	0.01	0.56456	D	0.058	0.46182	T	0.016	0.17332	B	0.004	0.10090	B	0.026818	0.25858	N	0.463537	0.999984	0.18198	N	1.43	0.35840	L	1.03	0.40469	T	-1.05	0.27463	N	0.1	0.08227	-1.0619	0.11288	T	0.057	0.23980	T	10	0.005469382	0.00121	T	0.005179	0.13187	T	0.046	0.12618	0.337	0.32654	0.525049811399	0.52150	0.40925480443161805	0.40841	0.17403807574	0.19594	0.28115093708	0.07653	T	0.012799	0.11182	T	-0.471546	0.00831	T	-0.443581	0.28407	T	0.00554624121956402	0.00060	T	0.589041	0.21605	T	0.095302746	0.22426	0.07030395	0.14919	0.120449856	0.28342	0.0867425	0.20115	-4.748	0.33979	T	0.31276433788098723	0.41070	0.189	0.40730	B	.;.	.;.	1.366380	0.17758	13.35	0.98638134780046571	0.44015	0.09500	0.15242	N	AEFBCI	0.140717	0.26269	N	-0.426546745186433	0.24543	1.325905	-0.341100050440938	0.26785	1.48178	0.999998827220318	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	2.45	0.28953	-0.214000	0.09296	0.886000	0.22434	-0.188000	0.09543	0.032000	0.20554	0.941000	0.28781	0.956000	0.50813	0.1707:0.6486:0.0:0.1807	4.760	0.12478	329	0.86514	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	2747.83	41	chr1	52402167	.	C	G	2747.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=849;ExcessHet=0.119;FS=1.581;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.71;SOR=0.813	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr1	52475424	52475424	G	A	exonic	TUT4	.	nonsynonymous SNV	TUT4:NM_001009881:exon13:c.C2135T:p.T712M,TUT4:NM_015269:exon13:c.C2135T:p.T712M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00851745965507	.	.	1.652e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs780205463	1.163e-05	1.163e-05	4.084e-06	1.925e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	9.892e-06	3.312e-05	4.637e-05	1.977e-05	1.972e-05	0	4.048e-05	6.564e-05	5.26e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.564e-05	0	0	0	0	2.942e-05	0	0	0.08	0.33585	T	0.084	0.43721	T	0.074	0.24142	B	0.002	0.08700	B	0.005116	0.33089	N	0.389938	0.999922	0.19486	N	0	0.06538	N	0.54	0.54911	T	-1.2	0.30555	N	0.083	0.05929	-1.1225	0.02179	T	0.055	0.23300	T	10	0.055628985	0.06110	T	0.008517	0.22532	T	0.037	0.09474	0.336	0.32491	0.19168177325	0.18762	0.3722690833693744	0.37140	0.126449546592	0.14255	0.34347191453	0.16957	T	0.050428	0.28592	T	-0.210716	0.19279	T	-0.524969	0.19792	T	0.057190942879363	0.06720	T	0.717128	0.32987	T	0.016883826	0.00229	0.037210103	0.03327	0.016883826	0.00229	0.037210103	0.03327	-3.447	0.15697	T	.	.	0.083	0.11510	B	.;.;.;.	.;.;.;.	1.342306	0.17492	13.19	0.81184719174458175	0.13561	0.76475	0.37509	D	AEFDGBI	0.098350	0.19820	N	-1.20362401722967	0.04946	0.2243781	-1.02110426397212	0.09322	0.4631013	0.257299173496263	0.18749	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.59	-0.822	0.10273	0.203000	0.17113	-0.090000	0.12069	-1.821000	0.00601	0.958000	0.33488	0.001000	0.17328	0.939000	0.47918	0.1093:0.474:0.1068:0.3098	2.729	0.04899	283	0.88803	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2180.33	33	chr1	52475424	.	G	A	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=770;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.777;SOR=0.947	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	52881538	52881538	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.A791G:p.N264S,ZYG11A:NM_001004339:exon11:c.A1817G:p.N606S	.	426	1060	35	1	0	37	0.0171535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00371419927087	0.0018	0.00299521	0.0039	0.0004	0.0048	0.0032	0.0006	0.0077	0.0081	0.0011	0.0011255	174	154602	rs74990705	0.0027	0.0026	0.0027	0.0028	0.0405	0.0027	0.0026	0.0363	0.0346	0.0015	0.0073	0.0180	0.0144	4.046e-05	0.0405	0.0017	0.0057	0.0013	0.0033	0.0033	0.0033	0.0033	0.0094	0.0031	0.0030	0.0082	0.0077	0.0008	0	0.0094	0.0196	0.0046	0	0.0714	0.0028	0.0090	0.0006	0.682	0.04404	T	0.548	0.10317	T	0.0	0.02946	B	0.001	0.04355	B	0.000544	0.43413	N	0.255590	0.999947	0.19238	N	-2.26	0.00106	N	0.86	0.46777	T	0.42	0.04380	N	0.119	0.10911	-1.0037	0.28844	T	0.017	0.06855	T	10	0.0032631755	0.00056	T	0.003714	0.08589	T	0.089	0.25827	.	.	0.0401082797425	0.02173	0.03835971225478573	0.03781	.	.	0.25982233882	0.04869	T	9.34E-4	0.00486	T	-0.68568	0.00044	T	-0.754957	0.03297	T	0.00477553847960825	0.00051	T	0.577542	0.26116	T	0.017094184	0.00246	0.02259496	0.00281	0.017094184	0.00245	0.02259496	0.00281	-0.424	0.00539	T	.	.	0.051	0.00158	B	.;.;.	.;.;.	0.763070	0.11331	7.949	0.42575992168650695	0.03148	0.20857	0.21194	N	AEFBI	0.042008	0.06462	N	-1.38617335773232	0.02767	0.1226422	-1.23648374870167	0.05335	0.2539068	3.74918051257091E-5	0.03775	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.56	1.51	0.22094	4.256000	0.58601	3.624000	0.39294	-0.991000	0.01849	1.000000	0.71638	0.772000	0.26708	0.385000	0.26447	0.1551:0.0:0.7126:0.1323	8.391	0.31689	154	0.93967	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041565	0.053191	0.059701	0.061947	0.000000	0.041667	0.005882	0.025000	0.07895	3743.79	35	chr1	52881538	.	A	G	3743.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.157;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	0	3	0
chr1	53070090	53070090	G	A	exonic	PODN	.	nonsynonymous SNV	PODN:NM_153703:exon2:c.G235A:p.V79I,PODN:NM_001199081:exon3:c.G235A:p.V79I,PODN:NM_001199080:exon4:c.G235A:p.V79I	.	430	1082	10	0	0	10	0.00459982	.	.	.	3376745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00553005013747	0.0005	0.000199681	0.0007	0.0002	0.0007	0.0002	0	0.0008	0.0011	0.0014	0.000608	94	154602	rs148109485	0.0005	0.0005	0.0004	0.0006	0.0137	0.0005	0.0005	0.0113	0.0104	0.0007	0.0007	0.0003	7.557e-05	0	0.0137	0.0004	0.0011	0.0013	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0007	0.0005	0.0002	0	0.0007	0.0006	0	0	0.0136	0.0007	0.0033	0.0015	0.322	0.15098	T	0.361	0.16914	T	0.076	0.57405	B	0.034	0.49832	B	0.026865	0.25848	N	0.400351	0.999995	0.08975	N	.	.	.	1.83	0.24841	T	-0.24	0.15986	N	0.415	0.45520	-1.0569	0.12543	T	0.066	0.27121	T	10	0.025538683	0.00745	T	0.00553	0.14258	T	0.102	0.29158	.	.	0.485634191555	0.48196	0.1969852699231546	0.19615	0.32099405324	0.34297	0.502152323723	0.39128	T	.	.	.	-0.47732	0.00767	T	-0.493792	0.22995	T	0.0156461467272588	0.00359	T	0.524548	0.36895	T	.	.	.	.	.	.	.	.	-5.162	0.38553	T	.	.	0.078	0.10883	B	.;.;.;.	.;.;.;.	3.707610	0.52916	23.3	0.99475454707413036	0.66579	0.78815	0.38943	D	AEFDBI	0.219631	0.34449	N	-0.0604830393226829	0.39136	2.303039	-0.0129535281784235	0.39129	2.315393	0.998027658499321	0.36327	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.73	4.73	0.59485	3.087000	0.49865	11.792000	0.96402	0.618000	0.50648	0.720000	0.28821	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	13.049	0.58351	365	0.84644	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.013587	0.043860	0.000000	0.017241	0.006098	0.007576	0.02632	1078.33	37	chr1	53070090	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=824;ExcessHet=0;FS=1.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=1.94;SOR=0.951	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1295	18	0	1	0
chr1	53210659	53210659	G	T	exonic	CPT2	.	nonsynonymous SNV	CPT2:NM_000098:exon4:c.G985T:p.D329Y,CPT2:NM_001330589:exon4:c.G985T:p.D329Y	CPT II deficiency, infantile, Autosomal recessive;CPT II deficiency, lethal neonatal, Autosomal recessive;CPT II deficiency, myopathic, stress-induced, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	448203	Inborn_genetic_diseases|Carnitine_palmitoyltransferase_II_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015515,MedGen:C0342790,Orphanet:157|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.679	0.0986636199281	.	.	8.249e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs750191719	2.052e-05	2.052e-05	1.225e-05	2.888e-05	0.0002	1.456e-05	1.264e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	3.311e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.987	0.77487	D	0.000015	0.62929	D	0.179595	1	0.81001	D	2.53	0.73802	M	-2.86	0.91421	D	-7.26	0.94377	D	0.757	0.75559	0.747	0.93756	D	0.828	0.94210	D	10	0.8895941	0.88297	D	0.098664	0.76980	D	0.679	0.88205	.	.	0.944487895422	0.94390	0.7031125264551901	0.70252	0.608496289833	0.55620	0.482821136713	0.36445	T	0.701124	0.91395	D	0.188813	0.72855	D	0.231084	0.84723	D	0.868055582046509	0.51804	D	0.957704	0.86214	D	0.9114241	0.92427	0.8971275	0.94772	0.9114241	0.92428	0.8971275	0.94773	-10.951	0.79389	D	0.7434267106452479	0.82551	0.262	0.51660	B	.;.;.;.;.	.;.;.;.;.	5.060834	0.84352	28.3	0.99564441680360416	0.72014	0.99613	0.97991	D	AEFDBI	0.934401	0.92772	D	0.86111475391745	0.89732	10.09402	0.856447785026183	0.93386	12.00917	0.99999999992456	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	10.003000	0.99689	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	19.439	0.94803	466	0.78352	Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2067.33	33	chr1	53210659	.	G	T	2067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.662;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.708;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr1	53327836	53327836	-	GCC	exonic	LRP8	.	nonframeshift insertion	LRP8:NM_001018054:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_004631:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_017522:exon1:c.76_77insGGC:p.Q25_L26insR,LRP8:NM_033300:exon1:c.76_77insGGC:p.Q25_L26insR	.	424	1093	5	0	0	5	0.00228206	.	.	.	3199412	LRP8-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0116	0	0	0	0.0011	0	0.0018	0.0003074	8	26028	rs759395062	0.0010	0.0012	0.0010	0.0010	0.0024	0.0010	0.0009	0.0019	0.0017	0.0024	0.0009	0.0006	0.0020	0.0014	0.0008	0.0009	0.0011	0.0013	0.0017	0.0018	0.0018	0.0017	0.0035	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0017	0.0009	0.0035	0.0016	0	0.0009	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	650.3	41	chr1	53327836	.	A	AGCC	650.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=638;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.93;SOR=0.423	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	18	0	1	0
chr1	53327839	53327839	T	A	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_001018054:exon1:c.A74T:p.Q25L,LRP8:NM_004631:exon1:c.A74T:p.Q25L,LRP8:NM_017522:exon1:c.A74T:p.Q25L,LRP8:NM_033300:exon1:c.A74T:p.Q25L	.	444	355	487	198	38	921	0.5543	.	.	.	3203048	LRP8-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.309	0.0750676627521	.	.	0.0017	0.0099	0	0	0	0.0011	0	0.0018	0.0002587	40	154602	rs4926972	0.0011	0.0012	0.0011	0.0011	0.0025	0.0011	0.0010	0.0020	0.0019	0.0025	0.0009	0.0006	0.0021	0.0015	0.0008	0.0010	0.0012	0.0013	0.0017	0.0018	0.0017	0.0017	0.0036	0.0016	0.0015	0.0025	0.0024	0.0029	0	0.0017	0.0009	0.0036	0.0017	0	0.0010	0.0014	0.0010	0.771	0.42783	T	0.652	0.06925	T	0.011	0.17989	B	0.005	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.67	0.90509	D	0.22	0.04694	N	0.217	0.32259	-0.7373	0.58591	T	0.409	0.75831	T	9	0.008163989	0.00185	T	0.075068	0.72198	D	0.309	0.63055	.	.	0.855947372543	0.85455	0.5067040976236344	0.50592	0.984122700799	0.73843	0.909727752209	0.97445	D	0.048704	0.28093	T	0.0952545	0.63776	D	-0.10095	0.63326	T	0.0155180842792677	0.00352	T	0.285671	0.05095	T	0.062303048	0.12998	0.11127649	0.26842	0.062303048	0.12997	0.11127649	0.26841	-0.71	0.00900	T	.	.	0.141	0.31074	B	.;.;.;.	.;.;.;.	0.979366	0.13568	10.09	0.63802622401549014	0.07321	0.18117	0.20126	N	AEFDGBCIJ	0.044139	0.07064	N	-2.00019441490205	0.00212	0.009062425	-1.98746701003199	0.00325	0.01437196	0.99999999248939	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.47	-3.85	0.03964	-1.770000	0.01889	-0.908000	0.06966	-1.337000	0.01208	0.745000	0.29079	0.961000	0.29326	0.656000	0.32857	0.0:0.3284:0.0:0.6716	11.9	0.51959	405	0.82444	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	6309.5	29	chr1	53327839	.	T	A	6309.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=668;ExcessHet=4.2649;FS=1.196;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.075;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:81:.:.:0,81,1215:.	18	0	1	0
chr1	53514694	53514694	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon7:c.C1289T:p.P430L,GLIS1:NM_001367484:exon8:c.C1814T:p.P605L	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00989298788821	0.0045	0.000798722	0.0036	0.0016	0.0023	0	0.0043	0.0051	0.0045	0.0016	0.003771	583	154602	rs142735388	0.0056	0.0056	0.0056	0.0056	0.0066	0.0055	0.0054	0.0065	0.0064	0.0011	0.0023	7.657e-05	5.038e-05	0.0028	0.0050	0.0066	0.0050	0.0018	0.0034	0.0034	0.0035	0.0034	0.0060	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0006	0	0	0.0045	0.0034	0.0060	0.0014	0.0010	0.017	0.51248	D	0.41	0.17750	T	0.384	0.34453	B	0.078	0.28627	B	0.055930	0.22601	N	0.371944	0.990685	0.41213	D	2.35	0.67516	M	2.76	0.11515	T	-1.03	0.27052	N	0.388	0.42931	-0.9774	0.35593	T	0.013	0.05321	T	10	0.011166304	0.00245	T	0.009893	0.25766	T	0.015	0.02232	.	.	0.544303689236	0.54083	0.28315753184834025	0.28228	0.0651516796996	0.07277	0.3909920156	0.23809	T	0.162119	0.50665	T	-0.566044	0.00234	T	-0.57932	0.14605	T	0.0142208380277264	0.00281	T	0.763624	0.39028	T	0.046672173	0.07851	0.050360087	0.07889	0.046672173	0.07850	0.050360087	0.07889	-2.908	0.09223	T	.	.	0.096	0.23640	B	.;.	.;.	2.204857	0.28123	17.69	0.99580483660092889	0.72980	0.63360	0.32065	D	AEFBI	0.073231	0.14641	N	-0.252525661057595	0.31003	1.734149	-0.165473704700105	0.32816	1.870839	0.0013396931270503	0.08454	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.97	3.9	0.44240	1.863000	0.39097	4.254000	0.42773	-0.123000	0.13640	0.980000	0.35271	1.000000	0.68203	0.554000	0.30269	0.2267:0.0:0.7733:0.0	8.079	0.29895	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.010101	0.002717	0.000000	0.050000	0.008621	0.000000	0.000000	0.02632	1042.33	33	chr1	53514694	.	G	A	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.511;SOR=0.607	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1197	18	0	1	0
chr1	53825820	53825820	T	C	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_001168551:exon5:c.A452G:p.Y151C,NDC1:NM_018087:exon5:c.A572G:p.Y191C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0466947008728	7.7e-05	.	3.3e-05	0	0	0	0.0002	4.5e-05	0	0	2.59e-05	4	154602	rs374201897	6.245e-06	6.156e-06	5.517e-06	6.982e-06	0.0002	2.94e-06	2.13e-06	7.2e-07	2e-07	0	0	3.914e-05	0	3.751e-05	0.0002	2.712e-06	1.675e-05	1.245e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000020	0.62929	D	0.124032	0.999997	0.81001	D	2.485	0.72352	M	0.87	0.46412	T	-4.83	0.80943	D	0.907	0.90818	-0.8095	0.54581	T	0.206	0.56499	T	10	0.8391105	0.83065	D	0.046695	0.62578	D	0.405	0.71791	.	.	0.369524611565	0.36568	0.82580054534949	0.82538	0.626399599102	0.56774	0.791769206524	0.80712	T	0.16578	0.51176	T	0.0745269	0.61394	D	-0.0608854	0.66271	T	0.94803661108017	0.62808	D	0.947205	0.79675	D	0.474918	0.65591	0.44664493	0.67772	0.474918	0.65592	0.44664493	0.67772	-7.114	0.54861	T	.	.	0.303	0.53229	B	.	.	4.376251	0.67413	25.1	0.99836263749920184	0.91714	0.99535	0.97177	D	AEFBI	0.747248	0.68936	D	0.606703653961117	0.73599	5.992338	0.61146835692942	0.75770	6.369969	0.999497313969056	0.40007	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	6.389000	0.73129	7.939000	0.75402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.517	0.75568	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	34	chr1	53825820	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=702;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.43;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr1	54139645	54139645	-	GC	exonic	CDCP2	.	frameshift insertion	CDCP2:NM_201546:exon5:c.1224_1225insGC:p.M409Afs*2	.	548	301	299	84	290	757	0.436857	.	.	.	2812811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0055	0.0015	0.0036	0.0001	0	0.0091	0.0132	0.0016	0.0010373	27	26028	rs76608277	0.0037	0.0037	0.0037	0.0037	0.0127	0.0037	0.0036	0.0103	0.0095	0.0013	0.0030	0.0060	2.561e-05	0.0002	0.0127	0.0042	0.0041	0.0014	0.0052	0.0045	0.0058	0.0046	0.0083	0.0048	0.0047	0.0076	0.0073	0.0016	0.0559	0.0066	0.0113	0.0002	0.0004	0.0105	0.0083	0.0043	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	22297.6	33	chr1	54139645	.	T	TGC	22297.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.389;DP=1538;ExcessHet=0.1862;FS=2.641;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=0.049;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:80:99:.:.:1315,1432,2875:.	17	0	2	0
chr1	54139840	54139840	C	-	exonic	CDCP2	.	stopgain	CDCP2:NM_001353655:exon5:c.1030delG:p.V344*,CDCP2:NM_201546:exon5:c.1030delG:p.V344*	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.919e-05	0	0	0.0006	0	7.517e-05	0	0.0001	.	.	.	rs756153513	5.541e-05	5.541e-05	4.22e-05	6.876e-05	0.0005	4.543e-05	4.155e-05	0.0004	0.0003	0	0	0.0002	0.0005	1.873e-05	0.0002	2.878e-05	0.0001	0.0002	0.0001	0.0001	6.426e-05	0.0002	0.0014	7.573e-05	6.279e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0.0001	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1878.29	37	chr1	54139839	.	AC	A	1878.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=922;ExcessHet=0;FS=1.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=-1.068;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr1	54139884	54139884	G	T	exonic	CDCP2	.	nonsynonymous SNV	CDCP2:NM_001353655:exon5:c.C986A:p.A329E,CDCP2:NM_201546:exon5:c.C986A:p.A329E	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0095	0.00778754	0.0030	0.0295	0.0017	0	0	0.0005	0.0011	0.0001	0.0028525	441	154602	rs138864964	0.0009	0.0009	0.0010	0.0008	0.0289	0.0009	0.0009	0.0274	0.0268	0.0289	0.0022	0.0020	0	1.872e-05	0.0021	0.0001	0.0021	5.797e-05	0.0085	0.0085	0.0084	0.0086	0.0283	0.0081	0.0079	0.0269	0.0264	0.0283	0	0.0051	0.0023	0	0	0.0034	0.0002	0.0085	0	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.795	0.57940	P	0.000010	0.62929	D	0.066357	0.95721	0.38013	D	1.55	0.39271	L	1.61	0.28391	T	-2.49	0.54217	N	0.382	0.42345	-1.0489	0.14705	T	0.055	0.23148	T	10	0.0064850748	0.00147	T	.	.	.	0.149	0.39377	.	.	0.344945010812	0.34105	0.557498861204305	0.55676	0.274598798256	0.29952	0.409648418427	0.26408	T	0.083934	0.37166	T	-0.603275	0.00139	T	-0.61771	0.11365	T	0.0257272730967003	0.01369	T	0.736326	0.35288	T	0.5302048	0.68842	0.6856439	0.81516	0.5302048	0.68843	0.6856439	0.81517	-6.917	0.53425	T	.	.	0.277	0.51523	B	.;.	.;.	3.427819	0.47631	22.5	0.99459625401595664	0.65736	0.83952	0.43041	D	AEFBI	.	.	.	0.581932043666143	0.72047	5.744719	0.602298490045028	0.75107	6.252347	0.976149744797198	0.29698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	2.510000	0.45129	11.697000	0.94442	0.676000	0.76740	0.980000	0.35271	1.000000	0.68203	0.992000	0.67800	0.0:0.1286:0.8714:0.0	16.786	0.85437	842	0.36989	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1705.33	37	chr1	54139884	.	G	T	1705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.489;DP=827;ExcessHet=0;FS=4.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=2.36;SOR=0.824	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	54653905	54653905	A	G	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001039464:exon3:c.A979G:p.M327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0033434283439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.121	0.35840	T	0.0	0.07471	B	0.001	0.04355	B	0.051372	0.22988	N	0.313394	1	0.08975	N	0.895	0.22405	L	3.62	0.04399	T	-0.71	0.23372	N	0.157	0.16308	-0.9616	0.38877	T	0.009	0.03359	T	10	0.060512662	0.07446	T	0.003343	0.07451	T	0.029	0.06676	0.349	0.34598	0.0297737177859	0.01360	0.21301494683292785	0.21217	0.0719892692725	0.08073	0.318403810263	0.13179	T	0.002628	0.02014	T	-0.276427	0.11050	T	-0.634845	0.10050	T	0.244250506162643	0.22613	T	0.554844	0.19218	T	0.2594641	0.49000	0.16624033	0.38415	0.2594641	0.48999	0.16624033	0.38414	-2.364	0.04917	T	.	.	0.118	0.26731	B	.;.;.	.;.;.	0.629129	0.09975	6.731	0.50609729885465438	0.04414	0.18361	0.20229	N	AEFDBI	0.091554	0.18544	N	-0.950193773437446	0.09687	0.45961	-0.943096890629215	0.11084	0.5624913	0.966329566568906	0.28895	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.49	1.04	0.19220	-0.220000	0.09220	0.405000	0.18046	-0.177000	0.10537	0.463000	0.26667	0.011000	0.20116	0.085000	0.17524	0.6612:0.0:0.1219:0.217	2.863	0.05251	787	0.46738	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	36	chr1	54653905	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=895;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.101;SOR=0.585	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	54673115	54673115	G	A	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon6:c.G178A:p.A60T,MROH7:NM_001039464:exon8:c.G1624A:p.A542T	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00504799664399	.	.	4.183e-05	0	8.735e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs757255939	3.079e-05	3.078e-05	1.089e-05	5.088e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.569e-05	6.562e-05	0	0.0001	0.0021	3.516e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.011	0.56456	D	0.136	0.36497	T	0.872	0.53183	P	0.578	0.52497	P	0.004898	0.33292	N	0.132843	0.908511	0.27557	N	2.87	0.83286	M	2.5	0.14408	T	-3.27	0.65512	D	0.26	0.32148	-1.0966	0.04528	T	0.055	0.23262	T	10	0.10892838	0.20299	T	0.005048	0.12784	T	0.125	0.34456	0.489	0.57415	0.143124449307	0.13826	0.27650832556807653	0.27563	0.176539232484	0.19871	0.398651063442	0.24880	T	0.01492	0.12614	T	-0.354203	0.04468	T	-0.436046	0.29251	T	0.789098799228668	0.45630	D	0.723828	0.33737	T	0.115359314	0.27223	0.15805474	0.36927	0.115359314	0.27223	0.15805474	0.36926	-8.062	0.62915	D	.	.	0.154	0.33981	B	.;.;.;.	.;.;.;.	3.382816	0.46799	22.4	0.99830443325868445	0.91198	0.60526	0.31220	D	AEFBI	0.286393	0.39879	N	0.314937784978073	0.56913	3.85708	0.264947849149565	0.53504	3.519008	7.3580619713199E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	3.04	0.34171	1.847000	0.38939	6.057000	0.53139	0.676000	0.76740	0.922000	0.32020	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.755:0.245	8.407	0.31782	774	0.48577	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1509.33	38	chr1	54673115	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.223;DP=775;ExcessHet=0;FS=3.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.75;SOR=0.901	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1159	18	0	1	0
chr1	54702160	54702160	G	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon18:c.G1910T:p.R637L,MROH7:NM_001039464:exon20:c.G3356T:p.R1119L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00742189468936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370697369	4.115e-06	4.788e-06	2.729e-06	5.516e-06	7.015e-05	1.48e-06	9.7e-07	3.016e-05	2.052e-05	0	0	0	0	0	0	0	0	7.015e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.653	0.39575	T	0.026	0.55759	D	0.415	0.35204	B	0.105	0.31087	B	0.610580	0.05699	N	1.194740	1	0.08975	N	2.015	0.55033	M	4.79	0.01980	T	-2.07	0.47344	N	0.441	0.47949	-0.9750	0.36125	T	0.024	0.10103	T	10	0.078143656	0.12418	T	0.007422	0.19685	T	0.024	0.04979	0.464	0.53404	0.0138822411134	0.00435	0.27172448853207465	0.27085	0.189719429744	0.21289	0.241123124957	0.02892	T	0.004631	0.04039	T	-0.445252	0.01204	T	-0.640681	0.09619	T	0.111846603453159	0.13612	T	0.768323	0.39714	T	0.055197123	0.10693	0.07115494	0.15202	0.055197123	0.10693	0.07115494	0.15201	-5.885	0.45307	T	.	.	0.166	0.36574	B	.;.	.;.	1.034977	0.14151	10.73	0.98661480850491223	0.44345	0.04251	0.09779	N	AEFDBI	0.164660	0.29107	N	-1.02791719724537	0.08027	0.3749803	-1.06351743949056	0.08427	0.4143253	7.7653203496821E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	1.18	0.20058	0.446000	0.21410	0.428000	0.18294	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.273:0.169:0.5579:0.0	4.267	0.10216	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	582.33	43	chr1	54702160	.	G	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=769;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=2.42;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.29	34	chr1	54813813	.	G	GA	236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.063;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=1.36;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,930	18	0	1	0
chr1	55007033	55007033	G	C	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon3:c.G309C:p.E103D	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	228489	Inborn_genetic_diseases|Bartter_syndrome|not_specified|not_provided|Bartter_disease_type_4A	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0130667330526	0.0002	0.000199681	0.0006	0	8.658e-05	0.0010	0.0006	0.0008	0.0022	0.0002	0.0004981	77	154602	rs200246335	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	2.987e-05	0	0	0.0014	0.0003	0.0012	0.0003	0.0008	0.0003	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0016	2.406e-05	0	0	0	0.0031	9.425e-05	0	0.0006	0.0005	0.0002	0.249	0.17183	T	0.346	0.17696	T	0.04	0.21238	B	0.026	0.20792	B	0.026292	0.25944	N	0.309833	0.941263	0.26784	N	1.445	0.36358	L	-0.46	0.70014	T	-1.09	0.28290	N	0.302	0.34120	-0.9863	0.33518	T	0.174	0.51722	T	10	0.0381369	0.02212	T	0.013067	0.32181	T	0.081	0.23632	0.19	0.10039	0.691832038465	0.68918	0.5054262971068186	0.50464	0.155653710383	0.17567	0.433333933353	0.29664	T	0.494106	0.81739	T	-0.488601	0.00661	T	-0.481402	0.24297	T	0.0315409933461791	0.02233	T	0.558444	0.19458	T	0.051055722	0.09317	0.054671142	0.09447	0.051055722	0.09317	0.054671142	0.09447	-3.813	0.20999	T	.	.	.	.	.	.	.	0.989017	0.13669	10.21	0.98944390704578544	0.48997	0.41072	0.26577	N	AEFBI	0.086862	0.17611	N	-0.694814081767141	0.16168	0.8213778	-0.669921024953416	0.17715	0.9431522	0.0134102304625365	0.12460	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	3.89	-0.395	0.11811	0.155000	0.16180	-0.035000	0.12744	-0.182000	0.10109	0.992000	0.37556	0.162000	0.23270	0.444000	0.27761	0.3194:0.1763:0.3241:0.1802	0.508	0.00552	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	2402.81	35	chr1	55007033	.	G	C	2402.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.66;SOR=1.416	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1310	18	1	0	0
chr1	55007117	55007117	G	T	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon3:c.G393T:p.L131F	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	864625	Bartter_disease_type_4A|not_specified|Bartter_syndrome|not_provided	MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112|MedGen:CN169374|MONDO:MONDO:0015231,MedGen:C0004775,OMIM:PS601678,Orphanet:112|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.310	0.120271694042	0.0002	0.000199681	0.0003	0.0004	0.0003	0	0	0.0003	0.0011	6.057e-05	0.0002264	35	154602	rs201387711	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	5.974e-05	0.0002	0.0004	0	0	0.0019	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0.0002	0	0.0002	0.0020	0	0	0	0.0002	0.0005	0.0004	0.013	0.53900	D	0.03	0.54159	D	0.999	0.77913	D	0.998	0.88582	D	0.000417	0.44736	D	0.000000	0.511307	0.31821	D	1.83	0.48079	L	-0.65	0.72237	T	-3.07	0.63207	D	0.443	0.48134	0.072	0.83667	D	0.472	0.79727	T	10	0.4357782	0.57783	T	0.120272	0.80078	D	0.310	0.63162	0.202	0.11659	0.647759520205	0.64484	0.1024461268180623	0.10174	0.41821122849	0.42420	0.353514373302	0.18438	T	0.717329	0.91983	D	-0.23285	0.16274	T	-0.266273	0.48196	T	0.0782609067059531	0.09763	T	0.538446	0.18153	T	0.15548502	0.35138	0.20191044	0.44194	0.15548502	0.35138	0.20191044	0.44193	-5.037	0.37239	T	.	.	.	.	.	.	.	2.016551	0.25627	16.83	0.99842362224839254	0.92229	0.18516	0.20292	N	AEFBI	0.122146	0.23715	N	0.0676736526120363	0.44960	2.760623	-0.112377161855368	0.34890	2.012137	0.0329143549428007	0.14079	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	3.89	1.98	0.25351	0.273000	0.18425	0.120000	0.14904	0.606000	0.46413	0.000000	0.06391	0.022000	0.20871	0.016000	0.10718	0.0:0.3601:0.6399:0.0	11.820	0.51504	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1820.33	35	chr1	55007117	.	G	T	1820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.735;DP=801;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.679;SOR=0.819	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1310	18	0	1	0
chr1	55124477	55124477	C	T	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon35:c.G4112A:p.S1371N	.	419	1099	3	1	0	5	0.00226963	.	.	.	3487480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0427589979729	8.4e-05	.	0.0002	0	0	0	0	0.0002	0.0015	0.0004	8.41e-05	13	154602	rs374827779	6.1e-05	6.225e-05	4.362e-05	7.858e-05	0.0005	5.037e-05	4.681e-05	0.0002	0.0002	0	4.508e-05	0	0	0	0.0005	4.502e-05	0.0001	0.0003	7.88e-05	7.875e-05	1.285e-05	0.0001	0.0004	4.494e-05	3.51e-05	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0.0034	4.41e-05	0.0009	0.0004	0.024	0.47745	D	0.01	0.65728	D	.	.	.	.	.	.	0.000004	0.62929	D	0.167577	0.999998	0.58761	D	0.805	0.20218	L	4.16	0.02791	T	-1.04	0.27259	N	0.751	0.75009	-0.9669	0.37834	T	0.021	0.09009	T	10	0.4503152	0.58657	T	0.042759	0.60630	D	0.163	0.42028	.	.	0.280695755116	0.27685	0.5177891468990123	0.51701	0.639306172899	0.57605	0.636573493481	0.58077	T	0.032536	0.22527	T	-0.39247	0.02593	T	-0.495556	0.22809	T	0.177533640858399	0.19078	T	0.893711	0.63166	D	0.30578023	0.53418	0.23252103	0.48415	0.30578023	0.53418	0.23252103	0.48414	-4.322	0.28484	T	.	.	0.654	0.71083	P	.	.	4.213753	0.63682	24.6	0.99226187278981526	0.56057	0.99777	0.99392	D	AEFDBI	0.854849	0.77191	D	0.575015649697597	0.71617	5.678294	0.610474434346003	0.75699	6.35704	0.999999999660162	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.537000	0.80946	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.813	0.92032	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	809.33	34	chr1	55124477	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.559;DP=673;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.59;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr1	55154696	55154696	T	C	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon13:c.A1529G:p.N510S	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00697706744202	.	.	2.52e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs756113120	1.916e-05	1.915e-05	5.447e-06	3.302e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	2.99e-05	4.477e-05	0	0	0	0	0	1.657e-05	0.0003	6.568e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.121	0.27783	T	0.763	0.04587	T	.	.	.	.	.	.	0.000264	0.46590	D	0.181162	0.852548	0.28475	N	0	0.06538	N	-0.11	0.64445	T	-1.55	0.37566	N	0.142	0.14196	-0.9758	0.35948	T	0.142	0.46367	T	10	0.13287562	0.25290	T	0.006977	0.18485	T	0.128	0.35103	.	.	0.0934897674506	0.08844	0.10008607447380946	0.09939	0.350614326612	0.36913	0.609346270561	0.54222	T	0.069516	0.33728	T	-0.447395	0.01170	T	-0.580105	0.14536	T	0.0534459154021073	0.06095	T	0.912709	0.68911	D	0.040101092	0.05660	0.06602454	0.13465	0.040101092	0.05660	0.06602454	0.13465	-3.214	0.12652	T	.	.	0.055	0.00412	B	.	.	2.607810	0.33864	19.46	0.98765116250848206	0.45878	0.89756	0.50428	D	AEFBI	0.201260	0.32793	N	-0.437255505255364	0.24174	1.303446	-0.195383869590367	0.31705	1.796846	0.91404740205314	0.26442	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.75	3.4	0.38031	2.723000	0.46947	4.241000	0.42707	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2029:0.1574:0.6397	4.735	0.12360	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1326.33	34	chr1	55154696	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=747;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.179;SOR=0.843	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1221	18	0	1	0
chr1	56707684	56707684	G	A	exonic	PRKAA2	.	nonsynonymous SNV	PRKAA2:NM_006252:exon9:c.G1630A:p.A544T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0419340779857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.063	0.45110	T	0.697	0.41767	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.83	0.74159	T	-1.67	0.39887	N	0.68	0.68690	-0.2529	0.76281	T	0.415	0.76245	T	10	0.69721746	0.72219	D	0.041934	0.60196	D	0.362	0.68230	0.407	0.44066	0.911861285934	0.91098	0.7810356495451304	0.78054	1.52497149867	0.87483	0.68064904213	0.64362	T	0.35625	0.72313	T	0.140625	0.68384	D	-0.0357782	0.67984	D	0.989046156406403	0.79308	D	0.954605	0.82717	D	0.68887156	0.77450	0.4936967	0.70716	0.68887156	0.77452	0.4936967	0.70717	-9.121	0.68472	D	.	.	0.793	0.76947	P	.;.	.;.	4.502944	0.70449	25.5	0.99861054994046083	0.93911	0.99348	0.94841	D	AEFDBI	0.869780	0.79046	D	0.636484300271477	0.75495	6.316407	0.730252814636135	0.84676	8.358683	0.999999999998805	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.620846	0.47308	0	.	.	5.99	5.99	0.97299	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	897	0.25382	5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal;5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1951.33	34	chr1	56707684	.	G	A	1951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.577;DP=775;ExcessHet=0;FS=2.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.388;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1373	18	0	1	0
chr1	56886031	56886031	G	T	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon7:c.G960T:p.E320D	C8 deficiency, type I, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	696805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.349	0.0607853204078	0.0012	0.000798722	0.0018	0.0002	0.0008	0	0.0002	0.0016	0.0011	0.0058	0.0016429	254	154602	rs147513844	0.0018	0.0018	0.0016	0.0020	0.0061	0.0018	0.0017	0.0057	0.0055	0.0003	0.0007	3.827e-05	0	0.0001	0.0028	0.0018	0.0016	0.0061	0.0012	0.0012	0.0012	0.0011	0.0037	0.0010	0.0010	0.0024	0.0020	0.0002	0	0.0010	0	0	0.0003	0.0034	0.0019	0.0005	0.0037	0.258	0.16683	T	0.302	0.20228	T	0.545	0.37995	P	0.324	0.41853	B	0.000000	0.84330	D	0.088480	0.98512	0.40239	D	2.205	0.62170	M	-1.83	0.84122	D	-1.68	0.40082	N	0.104	0.08786	-0.5478	0.66870	T	0.453	0.78644	T	10	0.0158647	0.00333	T	0.060785	0.68116	D	0.349	0.67049	0.436	0.48828	0.875609160862	0.87439	0.5981419899965553	0.59745	0.0629304990889	0.07006	0.401931136847	0.25337	T	0.03553	0.23754	T	-0.442803	0.01245	T	-0.406221	0.32662	T	0.0434296188685264	0.04317	T	0.759724	0.38410	T	0.51760286	0.68122	0.32596713	0.58508	0.51760286	0.68123	0.32596713	0.58507	-3.493	0.16334	T	.	.	0.126	0.26794	B	.	.	1.467790	0.18910	13.99	0.99188904747875573	0.54906	0.85427	0.44558	D	AEFI	0.742564	0.68615	D	-0.340645287048607	0.27617	1.516683	-0.306852004701799	0.27876	1.550035	0.00225419971606588	0.09270	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.04	-0.0504	0.13160	0.139000	0.15858	1.539000	0.27214	-0.106000	0.15538	0.979000	0.35152	1.000000	0.68203	0.876000	0.41813	0.4361:0.1098:0.4542:0.0	7.003	0.24002	939	0.14249	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.011364	0.05263	2973.83	33	chr1	56886031	.	G	T	2973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.301;DP=888;ExcessHet=0.119;FS=0.439;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.896;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	17	0	2	0
chr1	56943786	56943786	C	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon8:c.G1144T:p.D382Y,C8B:NM_001278543:exon9:c.G988T:p.D330Y,C8B:NM_001278544:exon9:c.G958T:p.D320Y	C8 deficiency, type II, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	696809	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign|association	.	.	.	.	.	.	.	.	0.397	0.0767145454667	0.0059	0.00279553	0.0042	0.0017	0.0027	0	0.0044	0.0062	0.0022	0.0008	0.0043337	670	154602	rs139498867	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0070	0.0012	0.0033	0.0085	0	0.0033	0.0028	0.0071	0.0058	0.0006	0.0043	0.0043	0.0049	0.0037	0.0068	0.0041	0.0039	0.0063	0.0061	0.0013	0.0011	0.0039	0.0121	0	0.0023	0	0.0068	0.0033	0.0006	0.005	0.63226	D	0.007	0.69154	D	0.974	0.57829	D	0.66	0.52803	P	0.029202	0.25487	N	0.458353	0.869162	0.28234	N	.	.	.	-1.81	0.83970	D	-1.54	0.37759	N	0.285	0.37509	-0.0678	0.80828	T	0.537	0.82892	D	10	0.008324385	0.00189	T	0.076715	0.72597	D	0.397	0.71163	.	.	0.879829729705	0.87865	0.7958464797366251	0.79537	0.218399245309	0.24377	0.281983196735	0.07770	T	0.060926	0.31519	T	-0.337704	0.05549	T	-0.250758	0.49742	T	0.0415903852167784	0.03980	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.35992	B	.;.;.	.;.;.	2.904105	0.38503	20.7	0.99371876885480581	0.61498	0.51133	0.28825	D	AEFI	0.436931	0.49694	N	0.0171729707789439	0.42635	2.572692	-0.10819151513677	0.35059	2.023858	0.904939928671033	0.26191	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.66	0.41111	2.055000	0.40971	0.003000	0.13321	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.988000	0.63387	0.0:0.9173:0.0:0.0827	12.856	0.57271	869	0.31655	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	2685.33	34	chr1	56943786	.	C	A	2685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=865;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.67;SOR=0.584	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	56945959	56945959	G	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon7:c.C967T:p.R323W,C8B:NM_001278543:exon8:c.C811T:p.R271W,C8B:NM_001278544:exon8:c.C781T:p.R261W	C8 deficiency, type II, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	816303	Type_II_complement_component_8_deficiency|not_provided	MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0900553585665	0.0006	0.000399361	0.0006	0	0.0004	0	0	0.0007	0.0022	0.0008	0.000608	94	154602	rs141295453	0.0006	0.0006	0.0007	0.0006	0.0010	0.0006	0.0006	0.0007	0.0006	0.0002	0.0008	0	0	3.744e-05	0.0010	0.0007	0.0006	0.0008	0.0004	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0006	7.218e-05	0	0.0012	0.0003	0	0	0	0.0006	0.0024	0.0002	0.007	0.63226	D	0.014	0.64786	D	0.85	0.46913	P	0.409	0.44752	B	0.785882	0.06682	N	1.095330	1	0.08975	N	.	.	.	-1.86	0.84341	D	-3.11	0.63669	D	0.341	0.39962	-0.3271	0.74218	T	0.554	0.83705	D	10	0.13814276	0.26274	T	0.090055	0.75446	D	0.247	0.55478	.	.	0.913127884105	0.91225	0.49851256302554914	0.49772	0.0387780054484	0.04121	0.211338624358	0.00869	T	0.119696	0.44141	T	-0.338613	0.05485	T	-0.340954	0.40237	T	0.088678033533374	0.11060	T	0.916808	0.75457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.20972	B	.;.;.	.;.;.	2.541321	0.32871	19.17	0.99857654720937583	0.93639	0.08719	0.14607	N	AEFBI	0.621618	0.60624	D	-0.136933999698584	0.35793	2.060433	-0.192327678853732	0.31818	1.804218	0.0051039184148305	0.10829	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	2.59	0.30091	0.602000	0.23833	2.094000	0.30565	0.676000	0.76740	0.001000	0.13787	0.990000	0.31317	0.843000	0.39806	0.0:0.0:0.7098:0.2902	14.215	0.65332	871	0.31377	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1790.33	127	chr1	56945959	.	G	A	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.091;DP=773;ExcessHet=0;FS=5.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-1.832;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07895	4415.79	35	chr1	59904999	.	C	T	4415.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.317;DP=946;ExcessHet=0.3672;FS=1.227;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.86;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	16	0	3	0
chr1	61827513	61827513	G	A	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon16:c.G1910A:p.R637Q,PATJ:NM_176877:exon16:c.G1910A:p.R637Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0811438861263	.	0.000399361	3.295e-05	0	8.642e-05	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs201550049	2.941e-05	2.941e-05	2.45e-05	3.438e-05	0.0002	2.216e-05	1.97e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	0	0	0.0002	1.619e-05	8.279e-05	0.0002	1.972e-05	1.969e-05	1.286e-05	2.69e-05	6.551e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000012	0.62929	D	0.000000	0.999999	0.58761	D	3.03	0.86425	M	0.56	0.54540	T	-3.68	0.70314	D	0.851	0.91047	-0.3240	0.74310	T	0.363	0.72384	T	10	0.70773906	0.72846	D	0.081144	0.73617	D	0.557	0.81774	.	.	0.721145682353	0.71869	0.8502472850887541	0.84986	0.68504084129	0.60259	0.664195537567	0.62009	T	0.270377	0.66684	T	0.0917753	0.63389	D	0.130721	0.78939	D	0.935129284858704	0.60311	D	0.970903	0.89563	D	0.619347	0.73728	0.53426534	0.73088	0.619347	0.73729	0.53426534	0.73089	-10.428	0.76432	D	.	.	0.471	0.63214	A	.;.;.;.	.;.;.;.	5.694678	0.93079	33	0.99961308309640151	0.99997	0.99492	0.96688	D	AEFBI	0.869670	0.79030	D	0.858436364716182	0.89583	10.03174	0.845739562006491	0.92766	11.61827	0.999999983608006	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.63	5.63	0.86108	8.316000	0.89903	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.682	0.95963	856	0.34373	PDZ domain|PDZ domain;PDZ domain|PDZ domain;PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	34	chr1	61827513	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.643;DP=757;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.69;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr1	61864390	61864390	G	A	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon20:c.G2592A:p.M864I,PATJ:NM_176877:exon20:c.G2592A:p.M864I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0040	0.00259585	0.0012	0.0086	0.0020	0	0	0.0005	0.0011	0	0.001119	173	154602	rs114708702	0.0005	0.0005	0.0006	0.0005	0.0071	0.0005	0.0005	0.0064	0.0061	0.0071	0.0019	0.0004	0	1.872e-05	0.0033	0.0003	0.0012	1.159e-05	0.0027	0.0027	0.0031	0.0023	0.0082	0.0025	0.0024	0.0075	0.0072	0.0082	0	0.0019	0.0006	0	0	0	0.0005	0.0028	0	0.388	0.10909	T	0.462	0.12526	T	0.008	0.14655	B	0.006	0.12133	B	0.014075	0.28644	N	0.326888	0.999793	0.20333	N	2.35	0.67516	M	2.73	0.11839	T	-0.13	0.08971	N	0.078	0.11197	-1.0851	0.06389	T	0.023	0.09923	T	10	0.004035473	0.00078	T	.	.	.	0.019	0.03383	0.195	0.10705	0.417208245017	0.41340	0.27781392980347386	0.27694	0.161333702851	0.18212	0.321704268456	0.13679	T	0.003136	0.09394	T	-0.611513	0.00124	T	-0.644491	0.09345	T	0.00793864016992627	0.00094	T	0.763624	0.39028	T	0.07041037	0.15505	0.081247546	0.18448	0.07041037	0.15505	0.081247546	0.18448	-2.981	0.09978	T	.	.	0.315	0.54153	B	.;.;.;.	.;.;.;.	2.189825	0.27918	17.62	0.95417995909662889	0.26892	0.81637	0.41001	D	AEFBI	0.053471	0.09637	N	-0.253342003784961	0.30970	1.731995	-0.135634153803705	0.33966	1.948592	0.0222015760573944	0.13412	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.48	3.45	0.38602	1.096000	0.30587	4.379000	0.43175	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.923000	0.45890	0.0:0.1353:0.585:0.2797	9.874	0.40360	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1382.33	34	chr1	61864390	.	G	A	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=760;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.765;SOR=0.53	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1319	18	0	1	0
chr1	62266785	62266785	G	A	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_001320269:exon5:c.C382T:p.R128W,KANK4:NM_181712:exon6:c.C2266T:p.R756W	.	426	1095	1	0	0	1	0.000456413	.	.	.	2895467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0118778932789	.	0.000199681	0.0002	9.779e-05	8.664e-05	0.0001	0	0.0003	0	0.0004	0.0002329	36	154602	rs144855300	0.0001	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.99e-05	0.0001	0.0025	7.562e-05	1.873e-05	0.0009	7.475e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	9.011e-05	0.0002	0	0	0.0052	0	0	0	0.0001	0	0.0006	0.2	0.44029	T	0.032	0.59732	D	0.004	0.18677	B	0.006	0.12133	B	0.643378	0.10578	N	0.768630	0.834588	0.28714	N	2.3	0.65703	M	0.82	0.48142	T	-2.79	0.59059	D	0.18	0.19459	-0.9299	0.44153	T	0.153	0.48257	T	10	0.017367512	0.00370	T	0.011878	0.29939	T	0.151	0.39764	0.542	0.65446	0.434160288164	0.43035	0.4117774789218481	0.41093	0.114630433972	0.12926	0.213644072413	0.00975	T	0.181592	0.71496	T	-0.354865	0.04429	T	-0.417514	0.31360	T	0.368989586830139	0.27759	T	0.311769	0.06085	T	0.16654775	0.36996	0.17620201	0.40137	0.16654775	0.36996	0.17620201	0.40137	-6.086	0.46993	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	4.074000	0.60556	24.2	0.99204798858375676	0.55381	0.96179	0.67897	D	AEFBIJ	0.621972	0.60647	D	-0.105710269220119	0.37144	2.156783	-0.00437949776457848	0.39516	2.34423	0.990477909101101	0.32165	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	4.673000	0.61297	4.436000	0.43368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.0:1.0:0.0	18.585	0.91142	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	316.33	34	chr1	62266785	.	G	A	316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.504;DP=696;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-0.978;SOR=0.269	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr1	62274857	62274857	G	A	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_181712:exon3:c.C247T:p.P83S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0198995489696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.01387	B	0.412902	0.12972	N	0.635267	0.972587	0.38957	D	-0.69	0.01958	N	-0.86	0.74477	T	0.26	0.04380	N	0.024	0.00445	-1.0019	0.29372	T	0.125	0.43028	T	10	0.054347456	0.05771	T	0.020	0.42377	T	0.112	0.31546	0.179	0.08626	0.213573922156	0.20996	0.2601371270036132	0.25927	0.0955675534175	0.10794	0.276101201773	0.06955	T	0.002252	0.01652	T	-0.258951	0.13022	T	-0.609742	0.12006	T	0.0390561670064926	0.03520	T	0.453455	0.12891	T	0.017649671	0.00290	0.033853203	0.02351	0.017649671	0.00290	0.033853203	0.02350	-3.959	0.23188	T	.	.	0.077	0.06479	B	.	.	0.320698	0.06954	3.500	0.50718355005808513	0.04434	0.04963	0.10728	N	AEFDBI	0.144235	0.26714	N	-1.23885099422493	0.04448	0.2007806	-1.13133644564877	0.07107	0.3445062	0.0524362261514598	0.14906	0.490419	0.18000	1	0.547309	0.14657	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	5.13	3.24	0.36257	1.083000	0.30427	5.608000	0.49046	-0.733000	0.03713	0.001000	0.13787	0.990000	0.31317	0.001000	0.02609	0.2339:0.0:0.7661:0.0	8.750	0.33771	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	45	chr1	62274857	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=860;ExcessHet=0;FS=4.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.252;SOR=0.349	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	62803787	62803787	A	G	exonic	ATG4C	.	startloss	ATG4C:NM_032852:exon2:c.A1G:p.M1?,ATG4C:NM_178221:exon2:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0354454869305	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909957525	1.383e-06	2.736e-06	1.376e-06	1.389e-06	3.065e-05	2.3e-07	9e-08	.	.	3.065e-05	0	0	0	0	0	9.062e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.59928	D	0.0	0.92824	D	0.144	0.27697	B	0.051	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-0.82	0.22508	N	0.809	0.80473	-0.8553	0.51599	T	0.125	0.42966	T	8	0.9628942	0.95722	D	0.035445	0.56350	D	0.387	0.70358	0.999	0.99990	0.385249989106	0.38142	0.4853835204178859	0.48458	.	.	.	.	.	0.011177	0.39445	T	0.439916	0.92018	D	0.394133	0.91920	D	0.989492297172546	0.79728	D	0.9	0.65058	D	0.40396515	0.61006	0.36873424	0.62158	0.40396515	0.61007	0.36873424	0.62157	-5.989	0.46188	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.417855	0.47442	22.5	0.98188138593683361	0.39010	0.99319	0.94436	D	AEFBI	0.135903	0.25639	N	0.137692467605171	0.48229	3.037901	0.281189561039733	0.54440	3.609145	0.999999847206299	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	7.614000	0.82196	11.143000	0.87128	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.663	0.68498	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3957.77	34	chr1	62803787	.	A	G	3957.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.063;DP=783;ExcessHet=0;FS=1.433;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=2.83;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	17	1	1	0
chr1	62841450	62841450	A	G	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon10:c.A1112G:p.K371R,ATG4C:NM_178221:exon10:c.A1112G:p.K371R	.	457	1048	16	1	0	18	0.00851466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.013894531389	0.0004	0.000599042	0.0010	0.0001	0.0009	0	0.0009	0.0010	0.0022	0.0020	0.0008667	134	154602	rs138011372	0.0008	0.0009	0.0008	0.0009	0.0125	0.0008	0.0008	0.0102	0.0094	0.0002	0.0011	0.0004	0.0001	0.0007	0.0125	0.0007	0.0013	0.0021	0.0010	0.0010	0.0008	0.0011	0.0017	0.0008	0.0008	0.0010	0.0008	0.0001	0.0329	0.0014	0.0009	0.0002	0.0013	0.0068	0.0008	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.78	0.19475	N	1.05	0.39990	T	1.36	0.00878	N	0.637	0.66358	-1.0649	0.10572	T	0.027	0.11397	T	10	0.011946738	0.00259	T	0.013895	0.33629	T	0.212	0.50341	.	.	0.49590494691	0.49224	0.51496311029059	0.51419	0.0920708205007	0.10393	0.753965497017	0.75031	T	0.067743	0.33280	T	-0.36696	0.03750	T	-0.306365	0.44049	T	0.0461026138893786	0.04802	T	0.835916	0.50694	T	0.3004051	0.52941	0.14274578	0.33949	0.3004051	0.52941	0.14274578	0.33948	-2.933	0.09477	T	.	.	0.130	0.27998	B	.;.	.;.	3.547129	0.49846	22.8	0.16103080468087305	0.00419	0.97005	0.72142	D	AEFCI	0.925333	0.90471	D	-0.170844177913158	0.34351	1.959726	0.083826740966658	0.43736	2.669205	0.999923380092343	0.46280	0.743674	0.98306	0	0.630245	0.54622	0	0.709663	0.75317	0	0.584449	0.35598	0	.	.	5.53	5.53	0.82530	7.153000	0.77018	11.268000	0.91307	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.649	0.76836	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	482.33	33	chr1	62841450	.	A	G	482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.338;DP=620;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.07;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,929	18	0	1	0
chr1	63402344	63402344	-	T	splicing	ALG6	NM_013339:exon4:c.257+1->T	.	.	Congenital disorder of glycosylation, type Ic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	541329	ALG6-congenital_disorder_of_glycosylation_1C	MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs745426479	1.587e-05	1.573e-05	6.872e-06	2.494e-05	0.0002	1.057e-05	8.83e-06	0.0001	0.0001	0	0	0	0	0	0.0002	2.723e-06	3.338e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	942.29	33	chr1	63402344	.	G	GT	942.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=687;ExcessHet=0;FS=8.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.116;SOR=1.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	18	0	1	0
chr1	63415884	63415884	C	T	exonic	ALG6	.	nonsynonymous SNV	ALG6:NM_013339:exon11:c.C914T:p.T305M	Congenital disorder of glycosylation, type Ic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1372075	ALG6-congenital_disorder_of_glycosylation_1C	MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.912	0.358536784238	.	.	4.988e-05	0	0	0	0	9.067e-05	0	0	4.53e-05	7	154602	rs546145736	1.236e-05	1.984e-05	1.094e-05	1.38e-05	6.008e-05	7.73e-06	6.38e-06	9.95e-06	5.05e-06	6.008e-05	4.478e-05	0	0	0	0	1.174e-05	0	1.163e-05	1.973e-05	2.627e-05	2.571e-05	1.347e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.92	0.96251	H	-2.14	0.86415	D	-4.05	0.74504	D	0.891	0.89020	0.807	0.94499	D	0.795	0.93061	D	10	0.98908985	0.99357	D	0.358537	0.92452	D	0.912	0.97662	.	.	0.93906706399	0.93843	0.8596756376050926	0.85931	1.00602193083	0.74586	0.491110831499	0.37593	T	0.887023	0.97675	D	0.249378	0.78544	D	0.300734	0.88230	D	0.987714767456055	0.78158	D	0.90351	0.66162	D	0.8313303	0.85995	0.6900936	0.81766	0.8313303	0.85997	0.6900936	0.81767	-9.311	0.69676	D	0.9579707975544716	0.98570	0.403	0.59749	A	.;.	.;.	5.198756	0.87212	29.2	0.99844150052077396	0.92403	0.93453	0.58257	D	AEFGBI	0.640694	0.61830	D	0.552024904047122	0.70205	5.468	0.446785665854102	0.64509	4.707904	0.143024317586851	0.17308	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.06	4.15	0.47978	5.237000	0.65185	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.9234:0.0:0.0766	13.441	0.60567	874	0.30607	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1391.33	44	chr1	63415884	.	C	T	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=831;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.785;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr1	64602900	64602900	G	A	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_020925:exon4:c.G505A:p.D169N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0191452320235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330032943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.02725	T	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.20959	T	0.47	0.03090	N	0.909	0.91047	-0.9973	0.30673	T	0.028	0.11838	T	10	0.35705423	0.52430	T	0.019145	0.41433	T	0.283	0.60100	.	.	0.23798241625	0.23396	0.4461765590387796	0.44535	0.231782148567	0.25732	0.829544782639	0.86492	D	.	.	.	-0.213081	0.18947	T	-0.543852	0.17920	T	0.916333913803101	0.57372	D	0.921908	0.71628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.76596	P	.;.	.;.	3.284325	0.45011	22.0	0.98983499094962291	0.49780	0.98543	0.83909	D	AEFBI	0.859980	0.77776	D	0.408578374498171	0.61892	4.39673	0.534266071106006	0.70310	5.486511	0.999999966162161	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.64	5.64	0.86480	9.326000	0.96402	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.712	0.96093	820	0.40914	VWA N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	762.33	34	chr1	64602900	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.648;DP=715;ExcessHet=0;FS=4.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.508;SOR=0.356	GT:AD:DP:GQ:PL	0/1:50,36:86:99:776,0,1382	18	0	1	0
chr1	66777419	66777419	G	A	exonic	TCTEX1D1	.	nonsynonymous SNV	TCTEX1D1:NM_152665:exon5:c.G505A:p.A169T	.	437	1083	1	1	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0288583842303	.	0.00159744	0.0013	0.0002	0.0022	0	0	4.498e-05	0	0.0081	0.0011707	181	154602	rs367743410	0.0006	0.0006	0.0004	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	0.0001	0.0018	0	0.0003	0	0.0003	4.317e-05	0.0006	0.0076	0.0003	0.0003	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0.0001	0	0.0002	0	0	0	0	4.412e-05	0.0005	0.0064	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.049596	1	0.81001	D	3.81	0.95479	H	1.37	0.34253	T	-3.44	0.67477	D	0.623	0.63798	-0.3327	0.74055	T	0.290	0.66162	T	10	0.018685818	0.00409	T	0.028858	0.51467	D	0.460	0.75755	0.732	0.86547	0.753115559536	0.75088	0.6129490193825382	0.61226	0.393819959556	0.40552	0.434276103973	0.29793	T	0.166358	0.51257	T	-0.18518	0.22969	T	-0.0332249	0.68154	D	0.224257227028277	0.21674	T	0.925307	0.72522	D	0.7249059	0.79436	0.72359353	0.83675	0.7249059	0.79437	0.72359353	0.83676	-8.784	0.66296	D	.	.	0.366	0.57610	A	.	.	4.952153	0.81810	27.6	0.99913717192684248	0.98238	0.98739	0.86233	D	AEFBI	0.896977	0.83865	D	1.0190101992036	0.96301	14.53096	0.958115454783107	0.97639	16.48552	0.999999940146721	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	9.042000	0.93266	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	19.949	0.97193	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1022.33	33	chr1	66777419	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.098;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.124;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr1	66925050	66925067	GGTGGCGGCAGCAGCGAA	-	exonic	MIER1	.	nonframeshift deletion	MIER1:NM_001077700:exon1:c.22_39del:p.S11_G16del,MIER1:NM_001077703:exon1:c.22_39del:p.S11_G16del,MIER1:NM_001350530:exon1:c.22_39del:p.S11_G16del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0014	0	0.0016	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750309531	6.944e-05	6.704e-05	4.804e-05	9.14e-05	0.0004	5.82e-05	5.391e-05	0.0003	0.0002	0	0.0002	0	0.0001	2.04e-05	0.0002	4.452e-05	0.0001	0.0004	0.0001	0.0001	8.993e-05	0.0001	0.0003	6.506e-05	5.318e-05	8.866e-05	5.279e-05	0.0001	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	485.29	34	chr1	66925049	.	CGGTGGCGGCAGCAGCGAA	C	485.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.921;DP=663;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.095;SOR=0.918	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	18	0	1	0
chr1	67004401	67004401	T	G	exonic	SLC35D1	.	nonsynonymous SNV	SLC35D1:NM_015139:exon12:c.A1007C:p.Q336P	Schneckenbecken dysplasia, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2099422	Schneckenbecken_dysplasia	MONDO:MONDO:0010013,MedGen:C0432194,OMIM:269250,Orphanet:3144	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	0.0179893535764	.	0.000399361	0.0004	0	0	0	0	1.499e-05	0.0011	0.0028	0.0003299	51	154602	rs200622288	0.0001	0.0001	7.759e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0005	6.295e-06	0.0002	0.0023	0.0002	0.0002	3.854e-05	0.0003	0.0044	0.0001	8.711e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0044	0.217	0.19157	T	0.066	0.44501	T	0.012	0.16265	B	0.009	0.14300	B	0.000004	0.62929	D	0.108661	0.999992	0.58761	D	2.175	0.60977	M	-0.21	0.66294	T	-0.53	0.16393	N	0.623	0.63798	-0.8447	0.52331	T	0.155	0.48585	T	10	0.016024202	0.00337	T	0.017989	0.39899	T	0.205	0.49236	.	.	0.846905503266	0.84544	0.898626058383182	0.89834	0.621530849985	0.56441	0.52704000473	0.42617	T	0.090292	0.38553	T	-0.242761	0.14998	T	-0.126413	0.61272	T	0.0756033730538428	0.09415	T	0.827517	0.49142	T	0.29758587	0.52687	0.38468745	0.63403	0.35123262	0.57163	0.42212823	0.66124	-9.266	0.69394	D	.	.	0.101	0.17615	B	.	.	3.683813	0.52454	23.2	0.98492647656874588	0.42120	0.98190	0.80386	D	AEFDBIJ	0.855900	0.77307	D	0.0947922421283454	0.46220	2.865744	0.274279214569735	0.54040	3.570487	0.999996158966684	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	6.888000	0.75438	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.752	0.69150	691	0.58815	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1530.33	37	chr1	67004401	.	T	G	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.922;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.518;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr1	67103255	67103255	T	A	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276352:exon7:c.A542T:p.D181V	.	449	1033	37	3	0	43	0.0203888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00539137	0.0104	0.0023	0.0070	0	0.0025	0.0115	0.0102	0.0133	0.0022121	342	154602	rs182783858	0.0078	0.0075	0.0077	0.0078	0.0208	0.0076	0.0076	0.0176	0.0164	0.0011	0.0037	0.0157	5.758e-05	0.0013	0.0208	0.0080	0.0101	0.0113	0.0050	0.0050	0.0054	0.0045	0.0112	0.0047	0.0046	0.0088	0.0080	0.0010	0	0.0051	0.0158	0.0002	0.0013	0.0204	0.0071	0.0099	0.0112	0.129	0.26852	T	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999979	0.18612	N	.	.	.	.	.	.	-0.64	0.18670	N	0.133	0.12913	-0.9831	0.34281	T	0.023	0.09741	T	5	0.004222423	0.00084	T	.	.	.	0.064	0.18567	.	.	0.12205267543	0.11705	.	.	.	.	.	.	.	.	.	.	-0.543854	0.00318	T	-0.543597	0.17945	T	0.00552059366229315	0.00060	T	0.542646	0.19863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.35034	B	.;.;.	.;.;.	0.808408	0.11794	8.365	0.83758081773936288	0.14903	0.01592	0.05174	N	AEFGBI	0.042645	0.06644	N	-0.904125580540234	0.10745	0.5149883	-1.09972139414414	0.07707	0.3759127	0.217717380184154	0.18318	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.66	-3.36	0.04606	-0.011000	0.12659	0.405000	0.18046	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.608000	0.31589	0.3532:0.3567:0.0:0.2901	3.284	0.06517	546	0.72524	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	561.33	33	chr1	67103255	.	T	A	561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.591;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	18	0	1	0
chr1	67127166	67127166	C	G	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276351:exon3:c.G75C:p.K25N,C1orf141:NM_001276352:exon3:c.G75C:p.K25N	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00725023092966	.	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs751871898	2.485e-05	2.6e-05	2.335e-05	2.636e-05	0.0038	1.819e-05	1.615e-05	0.0026	0.0022	0	9.276e-05	0	0	0	0.0038	4.524e-06	8.336e-05	0	9.859e-05	9.852e-05	3.855e-05	0.0002	0.0010	6.008e-05	4.881e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	0	0	0	0.045	0.40832	D	0.0	0.92824	D	0.932	0.51990	P	0.872	0.61918	P	0.063148	0.22046	N	0.327791	0.986236	0.24636	N	1.1	0.28011	L	1.31	0.35405	T	-3.48	0.69118	D	0.234	0.30687	-1.0868	0.06084	T	0.049	0.21026	T	9	0.122320145	0.23201	T	0.00725	0.19225	T	0.067	0.19503	0.257	0.19845	0.117506650769	0.11410	0.06268753911145926	0.06208	0.215792106592	0.24110	.	.	.	0.032139	0.22356	T	-0.377844	0.03215	T	-0.543854	0.17920	T	0.545806705951691	0.34321	D	0.779122	0.41374	T	0.20035608	0.42008	0.20409837	0.44518	0.20035608	0.42008	0.20409837	0.44517	-4.381	0.29298	T	.	.	0.525	0.66536	A	.;.;.;.;.;.	.;.;.;.;.;.	6.107893	0.94578	34	0.99631336761625366	0.76081	0.77392	0.38046	D	AEFBI	0.316778	0.42096	N	0.103989965691919	0.46649	2.902006	0.0521983161948494	0.42178	2.546685	0.367525750888415	0.19838	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.13	3.2	0.35826	1.610000	0.36480	5.569000	0.48938	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.421000	0.27250	0.2075:0.7925:0.0:0.0	9.578	0.38632	566	0.70798	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	1372.33	33	chr1	67127166	.	C	G	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.149;DP=734;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.711;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	18	0	1	0
chr1	67169528	67169528	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon3:c.G257A:p.R86Q	.	.	.	.	.	.	.	.	.	.	.	1153673	IL23R-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0019	0.00119808	0.0028	0.0004	0.0003	0	0.0154	0.0033	0.0044	0	0.0024838	384	154602	rs76575803	0.0027	0.0027	0.0027	0.0027	0.0026	0.0026	0.0026	0.0025	0.0025	0.0002	0.0006	0.0005	0	0.0155	0	0.0026	0.0024	0	0.0029	0.0029	0.0026	0.0032	0.0033	0.0027	0.0026	0.0029	0.0028	0.0006	0	0.0010	0.0006	0	0.0162	0	0.0033	0.0019	0	0.411	0.10115	T	0.486	0.11691	T	0.196	0.29532	B	0.012	0.16012	B	0.546320	0.05343	N	1.218280	1	0.08975	N	0.75	0.19020	N	-1.93	0.84842	D	0.12	0.05604	N	0.136	0.13341	-0.9577	0.39608	T	0.190	0.54183	T	10	0.004992068	0.00107	T	.	.	.	0.129	0.35316	.	.	0.494299846589	0.49065	0.5681586471644214	0.56743	0.193406846356	0.21670	0.185986280441	0.00162	T	0.058575	0.30879	T	-0.438697	0.01316	T	-0.401981	0.33153	T	0.00199591395101002	0.00020	T	0.686731	0.29555	T	0.12462046	0.29234	0.041509487	0.04735	0.12462046	0.29234	0.041509487	0.04735	-2.404	0.05157	T	.	.	0.065	0.01834	B	.	.	0.498937	0.08683	5.452	0.75693926049051419	0.11174	0.01713	0.05435	N	AEFGBI	0.056683	0.10498	N	-1.17423146641199	0.05392	0.2456948	-1.22397144722398	0.05527	0.2635729	0.837551758137993	0.24807	0.487112	0.14033	0	0.541556	0.11502	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.61	-2.52	0.05978	-0.483000	0.06616	-0.653000	0.08018	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.805000	0.37950	0.478:0.0:0.3979:0.1241	6.055	0.19034	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2365.33	34	chr1	67169528	.	G	A	2365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=806;ExcessHet=0;FS=3.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.252;SOR=0.476	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr1	67200750	67200750	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon5:c.G505A:p.E169K	.	424	1097	1	0	0	1	0.000455581	.	.	.	1993015	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.00993329958075	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769559634	6.159e-06	6.157e-06	6.809e-06	5.502e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	2.988e-05	2.236e-05	0	0	0	0.0002	4.498e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.0	0.92824	D	0.995	0.67487	D	0.893	0.63340	P	0.002885	0.35770	N	0.265778	0.990757	0.41229	D	2.47	0.71715	M	1.3	0.35590	T	-1.48	0.36189	N	0.415	0.45520	-1.0577	0.12337	T	0.093	0.35444	T	10	0.3867667	0.54598	T	0.009933	0.25856	T	0.110	0.31079	0.406	0.43902	0.613194787705	0.61007	0.5868026998829159	0.58610	0.195167961447	0.21852	0.483757287264	0.36574	T	0.114436	0.43226	T	-0.0834693	0.39150	T	-0.274809	0.47334	T	0.788287162780762	0.45577	D	0.868313	0.57032	D	0.19819616	0.41713	0.11299868	0.27268	0.19819616	0.41712	0.11299868	0.27268	-3.247	0.13063	T	.	.	0.109	0.20780	B	.	.	4.708600	0.75617	26.4	0.998626107887429	0.94093	0.85530	0.44672	D	AEFI	0.429884	0.49282	N	0.410897657934676	0.62019	4.411389	0.441616717224418	0.64179	4.667366	4.62768121483003E-4	0.07066	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.95	5.03	0.67015	2.571000	0.45654	8.525000	0.77436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.159:0.841:0.0	13.240	0.59422	603	0.67726	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.000000	0.02632	991.33	43	chr1	67200750	.	G	A	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.112;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.412;SOR=0.745	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	67338653	67338653	A	T	exonic	IL12RB2	.	nonsynonymous SNV	IL12RB2:NM_001258215:exon8:c.A988T:p.M330L,IL12RB2:NM_001258216:exon8:c.A988T:p.M330L,IL12RB2:NM_001559:exon8:c.A988T:p.M330L,IL12RB2:NM_001258214:exon9:c.A988T:p.M330L,IL12RB2:NM_001319233:exon9:c.A988T:p.M330L,IL12RB2:NM_001374259:exon9:c.A988T:p.M330L	.	419	1102	1	0	0	1	0.000453515	.	.	.	1343675	IL12RB2-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.013	0.00383624063409	0.0004	0.000199681	0.0006	0.0005	0.0020	0.0001	0.0003	0.0006	0	6.057e-05	0.0005563	86	154602	rs150877640	0.0004	0.0004	0.0004	0.0005	0.0030	0.0004	0.0004	0.0019	0.0016	0.0008	0.0017	0.0015	0	0.0003	0.0030	0.0004	0.0006	4.699e-05	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0008	0.0007	0.0003	0.0055	0.0012	0.0014	0	0	0	0.0004	0.0014	0.0002	0.5	0.17239	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.848863	0.07044	N	1.063550	0.999991	0.08975	N	1.445	0.36358	L	0.71	0.51228	T	-0.63	0.19933	N	0.245	0.33687	-1.0105	0.26760	T	0.027	0.11663	T	10	0.0057055354	0.00127	T	0.003836	0.08961	T	0.059	0.16972	0.684	0.82175	0.298745278005	0.29478	0.19224443982778164	0.19142	0.122856019318	0.13844	0.298953711987	0.10245	T	0.06843	0.33456	T	-0.559545	0.00255	T	-0.589754	0.13687	T	0.00400107801468078	0.00042	T	0.624837	0.40643	T	0.08723208	0.20304	0.0895667	0.20952	0.08723208	0.20304	0.0895667	0.20951	-2.773	0.17482	T	.	.	0.099	0.19720	B	.;.;.;.;.	.;.;.;.;.	0.311019	0.06862	3.393	0.77810031052050166	0.12032	0.02792	0.07507	N	AEFGBHCI	0.064447	0.12515	N	-1.41887447293301	0.02473	0.109261	-1.43484381998801	0.02910	0.1347671	0.999999469571621	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	4.92	-3.9	0.03904	-0.137000	0.10369	-0.369000	0.09620	-0.577000	0.04723	0.003000	0.16062	0.000000	0.08366	0.609000	0.31615	0.2604:0.4948:0.2447:0.0	7.050	0.24245	740	0.53092	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1570.33	38	chr1	67338653	.	A	T	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=747;ExcessHet=0;FS=5.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.021;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr1	67395667	67395667	T	A	exonic	IL12RB2	.	nonsynonymous SNV	IL12RB2:NM_001258215:exon14:c.T1909A:p.C637S,IL12RB2:NM_001559:exon16:c.T2167A:p.C723S,IL12RB2:NM_001374259:exon17:c.T2167A:p.C723S	.	422	1087	13	0	0	13	0.00594422	.	.	.	1153689	IL12RB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0013	0.00139776	0.0024	0	0.0015	0.0001	0	0.0015	0.0044	0.0105	0.0021539	333	154602	rs144657291	0.0015	0.0015	0.0012	0.0018	0.0100	0.0015	0.0014	0.0094	0.0092	0.0002	0.0010	0.0075	0	0.0003	0.0036	0.0008	0.0020	0.0100	0.0014	0.0014	0.0013	0.0016	0.0081	0.0013	0.0012	0.0061	0.0054	9.624e-05	0	0.0018	0.0118	0.0002	0.0003	0.0034	0.0014	0.0009	0.0081	0.523	0.43708	T	0.305	0.20037	T	0.008	0.14655	B	0.002	0.06944	B	0.027660	0.01672	N	2.055580	1	0.08975	N	1.04	0.26193	L	1.16	0.38073	T	-1.03	0.31981	N	0.051	0.03841	-1.0959	0.04625	T	0.013	0.05081	T	10	0.00401327	0.00078	T	.	.	.	0.036	0.09122	0.391	0.41443	0.180583059064	0.17676	0.21174528499747977	0.21090	0.163251288877	0.18421	0.225918412209	0.01680	T	0.070212	0.33904	T	-0.611125	0.00125	T	-0.643651	0.09405	T	0.0274566821795771	0.01609	T	0.558444	0.19458	T	0.035381913	0.04153	0.055016465	0.09572	0.035381913	0.04153	0.055016465	0.09571	-2.115	0.03649	T	.	.	0.079	0.13876	B	.;.;.	.;.;.	-0.992636	0.00782	0.025	0.65680128115233283	0.07841	0.01880	0.05784	N	AEFDBI	0.088498	0.17940	N	-1.55510369656308	0.01505	0.06571165	-1.60397519775079	0.01631	0.07402698	0.897341833285068	0.26000	0.615465	0.37627	0	0.633656	0.55848	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	4.98	-3.27	0.04735	-1.526000	0.02333	-3.964000	0.02424	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2497:0.2934:0.4569	4.873	0.13002	443	0.79878	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.005435	0.002924	0.000000	0.000000	0.024390	0.000000	0.02632	2452.33	35	chr1	67395667	.	T	A	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=812;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.084;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	18	0	1	0
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.02632	1189.33	33	chr1	68438977	.	A	C	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.833;DP=720;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.764;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.02632	1601.33	35	chr1	69994621	.	A	G	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.416;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.152;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	18	0	1	0
chr1	70036163	70036163	C	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon19:c.C2041G:p.L681V,LRRC7:NM_001366838:exon19:c.C2038G:p.L680V,LRRC7:NM_001370785:exon19:c.C2038G:p.L680V,LRRC7:NM_001330635:exon20:c.C1939G:p.L647V,LRRC7:NM_001366839:exon20:c.C1939G:p.L647V,LRRC7:NM_001366841:exon20:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00710322179758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.54541	D	0.451	0.36091	B	0.137	0.33328	B	0.000002	0.62929	D	0.061982	0.989178	0.81001	D	1.735	0.44892	L	0.8	0.48769	T	-0.79	0.21860	N	0.42	0.65844	-1.0735	0.08660	T	0.063	0.26314	T	10	0.18022761	0.33196	T	0.007103	0.18814	T	0.206	0.49396	0.152	0.05544	0.356364620521	0.35248	0.25152872942128907	0.25066	0.839902955918	0.67995	0.576245367527	0.49557	T	0.025186	0.52354	T	0.0360236	0.56521	T	-0.186031	0.55961	T	0.864413559436798	0.51459	D	0.892111	0.62800	D	0.25607583	0.48646	0.29256755	0.55284	0.25607583	0.48646	0.29256755	0.55283	-3.422	0.15354	T	.	.	0.282	0.51463	B	.;.	.;.	3.886886	0.56525	23.7	0.9966674996809376	0.78330	0.97732	0.76733	D	AEFBI	0.726205	0.67494	D	0.238167097406804	0.53058	3.476353	0.419172458178913	0.62760	4.496942	0.98808360991299	0.31414	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	4.344000	0.59134	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.628	0.95682	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	166.33	40	chr1	70036163	.	C	G	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.431;DP=709;ExcessHet=0;FS=62.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=-0.441;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1280:.	18	0	1	0
chr1	70159388	70159388	G	A	exonic	LRRC40	.	nonsynonymous SNV	LRRC40:NM_017768:exon10:c.C1162T:p.P388S	.	443	1054	24	1	0	26	0.0121837	.	.	.	696866	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0103154875521	0.0030	0.000798722	0.0029	0.0007	0.0008	0	0.0002	0.0035	0.0022	0.0061	0.0025808	399	154602	rs145682711	0.0028	0.0029	0.0027	0.0030	0.0063	0.0027	0.0027	0.0052	0.0051	0.0003	0.0006	0.0140	0	0.0004	0.0063	0.0027	0.0033	0.0057	0.0022	0.0022	0.0022	0.0021	0.0058	0.0020	0.0019	0.0041	0.0036	0.0004	0.0011	0.0016	0.0173	0	0.0002	0	0.0028	0.0043	0.0058	0.133	0.26409	T	0.401	0.14961	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.035	0.86516	M	1.41	0.33412	T	-1.96	0.45404	N	0.555	0.58031	-0.9767	0.35749	T	0.110	0.39747	T	10	0.009340525	0.00211	T	0.010315	0.26698	T	0.174	0.44019	.	.	0.724671463743	0.72223	0.8025842613105568	0.80212	0.0943749820084	0.10650	0.569672703743	0.48631	T	0.009312	0.08481	T	-0.282919	0.10360	T	-0.177112	0.56790	T	0.055637002041646	0.06463	T	0.944706	0.79020	D	0.16501424	0.36746	0.17297256	0.39590	0.16501424	0.36746	0.17297256	0.39589	-8.055	0.61445	D	.	.	0.545	0.66570	A	.	.	4.657137	0.74301	26.1	0.99886025326421835	0.96126	0.96175	0.67878	D	AEFBI	0.679732	0.64366	D	0.645132602333635	0.76053	6.416277	0.658976542692519	0.79282	7.049295	0.999157564015876	0.38592	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	6.500000	0.73596	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.450	0.87481	898	0.25240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	269.33	34	chr1	70159388	.	G	A	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.24;DP=638;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.517;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1035	18	0	1	0
chr1	70205533	70205533	C	T	exonic	LRRC40	.	nonsynonymous SNV	LRRC40:NM_017768:exon1:c.G8A:p.R3H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	.	0.00179712	0.0015	0	0.0002	0	0	1.525e-05	0	0.0107	0.001229	190	154602	rs565022599	0.0006	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0097	6.007e-05	6.774e-05	0	0	0	0.0002	7.289e-06	0.0005	0.0106	0.0004	0.0004	0.0001	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0	0	0	0.0120	0.006	0.61437	D	0.019	0.59159	D	0.999	0.77913	D	0.84	0.60170	P	0.000016	0.62929	D	0.111604	0.999679	0.48205	D	2.495	0.72670	M	1.29	0.35775	T	-1.23	0.31170	N	0.558	0.58287	-0.9075	0.47156	T	0.135	0.44952	T	10	0.0062733293	0.00141	T	.	.	.	0.225	0.52323	0.462	0.53079	0.722838293459	0.72039	0.4294081487562566	0.42857	0.351201735041	0.36964	0.542673826218	0.44824	T	0.009698	0.08812	T	-0.365008	0.03855	T	-0.289123	0.45864	T	0.129012356700747	0.15290	T	0.513749	0.16498	T	0.24595529	0.47558	0.27180967	0.53085	0.24595529	0.47558	0.27180967	0.53084	-7.391	0.56841	T	.	.	0.203	0.42777	B	.	.	4.362663	0.67097	25.1	0.99942205089518332	0.99824	0.89939	0.50738	D	ALL	0.347669	0.44206	N	0.498438803692165	0.66999	5.023424	0.431107194113858	0.63512	4.586464	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.05	5.05	0.67566	2.637000	0.46219	4.635000	0.44132	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	13.770	0.62504	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	911.33	34	chr1	70205533	.	C	T	911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.321;DP=681;ExcessHet=0;FS=3.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.784;SOR=0.35	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	18	0	1	0
chr1	70953784	70953784	T	A	exonic	PTGER3	.	nonsynonymous SNV	PTGER3:NM_198716:exon3:c.A1083T:p.R361S,PTGER3:NM_198718:exon3:c.A1083T:p.R361S	.	476	1045	1	0	0	1	0.00047824	.	.	.	3588702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00282946185309	.	.	6.668e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs761024899	3.571e-05	3.288e-05	4.254e-05	2.879e-05	0.0002	2.722e-05	2.43e-05	2.872e-05	2.515e-05	0	4.486e-05	0	0	0	0.0002	3.864e-05	1.895e-05	5.827e-05	3.943e-05	3.94e-05	2.57e-05	5.38e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.349e-05	0	0	0.822	0.10659	T	0.11	0.37310	T	0.0	0.02946	B	0.0	0.01387	B	0.006750	0.01139	N	3.104910	1	0.08975	N	.	.	.	1.21	0.37230	T	1.03	0.01712	N	0.233	0.26233	-1.0571	0.12491	T	0.012	0.04463	T	10	0.050581157	0.04812	T	0.002829	0.05927	T	0.028	0.06331	0.495	0.58363	0.285775778912	0.28195	0.2875824544131249	0.28671	0.805347081922	0.66429	0.404647171497	0.25715	T	.	.	.	-0.457519	0.01018	T	-0.646662	0.09189	T	0.0223883904985133	0.00953	T	0.343166	0.07474	T	.	.	.	.	.	.	.	.	-3.175	0.12177	T	.	.	0.279	0.51227	B	.;.	.;.	-0.968672	0.00817	0.027	0.75720764065502433	0.11184	0.02019	0.06066	N	AEFI	0.082602	0.16727	N	-1.55543481494492	0.01503	0.06562808	-1.65946932178018	0.01328	0.05991403	0.308851078896083	0.19266	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.1	-6.2	0.01894	-0.971000	0.03916	-0.781000	0.07454	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.1332:0.3877:0.2707:0.2084	2.469	0.04281	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr1	70953784	.	T	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=703;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-2.035;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	18	0	1	0
chr1	70953785	70953785	C	A	exonic	PTGER3	.	nonsynonymous SNV	PTGER3:NM_198716:exon3:c.G1082T:p.R361I,PTGER3:NM_198718:exon3:c.G1082T:p.R361I	.	475	1046	1	0	0	1	0.000477783	.	.	.	3588703	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00320837384085	.	.	6.742e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs766481804	3.582e-05	3.631e-05	4.266e-05	2.887e-05	0.0002	2.731e-05	2.437e-05	2.879e-05	2.521e-05	0	4.518e-05	0	0	0	0.0002	3.874e-05	1.901e-05	5.863e-05	3.945e-05	3.941e-05	2.571e-05	5.383e-05	7.348e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.417e-05	0	0	0	0	0	0	7.348e-05	0	0	0.281	0.15458	T	0.5	0.13872	T	0.0	0.02946	B	0.0	0.01387	B	0.006750	0.01139	N	3.104910	1	0.08975	N	.	.	.	1.34	0.34841	T	1.03	0.02007	N	0.334	0.37509	-1.0509	0.14147	T	0.016	0.06473	T	10	0.06693578	0.09255	T	0.003208	0.07057	T	0.050	0.13987	0.473	0.54859	0.476094503173	0.47238	0.2874344708767822	0.28656	1.229058174	0.81290	0.428138196468	0.28954	T	.	.	.	-0.340732	0.05337	T	-0.478906	0.24562	T	0.0457856374177882	0.04744	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-2.695	0.07261	T	.	.	0.212	0.44095	B	.;.	.;.	0.272047	0.06494	2.975	0.63610335235741511	0.07269	0.02719	0.07379	N	AEFI	0.042576	0.06624	N	-1.15646201226999	0.05674	0.2592959	-1.18783164921082	0.06112	0.293219	2.96625899259919E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.1	-0.011	0.13318	0.196000	0.16979	0.396000	0.17945	0.454000	0.21428	0.001000	0.13787	0.000000	0.08366	0.200000	0.21896	0.2258:0.5128:0.0:0.2614	2.661	0.04720	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr1	70953785	.	C	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=703;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-1.972;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	18	0	1	0
chr1	74205344	74205344	A	G	exonic	FPGT	.	nonsynonymous SNV	FPGT:NM_003838:exon4:c.A1297G:p.N433D,FPGT:NM_001199328:exon5:c.A535G:p.N179D	.	423	1098	1	0	0	1	0.000455166	.	.	.	2808956	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00199681	0.0010	0	0	0	0	0	0	0.0071	0.0008538	132	154602	rs546038252	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	2.987e-05	0	0	0	0	0	3.597e-06	0.0004	0.0066	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.223	0.18757	T	0.312	0.19599	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.64	0.52867	T	-1.97	0.45587	N	0.35	0.39153	-1.0564	0.12672	T	0.046	0.19640	T	8	0.0069644153	0.00158	T	.	.	.	0.151	0.39764	.	.	0.192905019026	0.18896	0.23959461324504153	0.23873	.	.	.	.	.	.	.	.	-0.486134	0.00683	T	-0.466789	0.25863	T	0.0857656610932926	0.10707	T	0.855914	0.54393	D	0.101286404	0.23925	0.15069802	0.35530	0.101286404	0.23925	0.15069802	0.35529	-4.515	0.33585	T	.	.	0.118	0.35684	B	.;.	.;.	3.203141	0.43573	21.8	0.98758393496993391	0.45770	0.76971	0.37796	D	AEFDBIJ	0.076239	0.15332	N	0.188734346092964	0.50658	3.253761	0.222939248031277	0.51124	3.297585	0.975618527381463	0.29649	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.72	4.53	0.55009	2.550000	0.45472	7.920000	0.74475	0.756000	0.94297	0.990000	0.36992	1.000000	0.68203	0.941000	0.48210	0.6653:0.1345:0.071:0.1293	3.822	0.08355	941	0.13089	L-fucokinase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1258.33	97	chr1	74205344	.	A	G	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=1197;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.18;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	18	0	1	0
chr1	74205591	74205591	G	T	exonic	FPGT	.	nonsynonymous SNV	FPGT:NM_003838:exon4:c.G1544T:p.G515V,FPGT:NM_001199328:exon5:c.G782T:p.G261V	.	438	1079	5	0	0	5	0.0023116	.	.	.	3250793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0412603924561	.	0.000399361	0.0001	0	0.0003	0.0001	0	8.993e-05	0	0.0003	0.0001164	18	154602	rs200809071	6.912e-05	6.977e-05	6.264e-05	7.565e-05	0.0012	5.782e-05	5.393e-05	0.0006	0.0004	0	0.0006	0	0	0	0.0012	2.159e-05	0.0001	0.0004	7.881e-05	7.875e-05	8.997e-05	6.714e-05	0.0002	4.494e-05	3.51e-05	4.765e-05	3.339e-05	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.006	0.61437	D	0.025	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.999989	0.81001	D	.	.	.	1.49	0.31470	T	-3.82	0.71997	D	0.279	0.33250	-0.9005	0.47942	T	0.141	0.46165	T	9	0.17497957	0.32405	T	0.04126	0.59828	D	0.284	0.60219	.	.	0.379193981924	0.37526	0.47100141007130286	0.47019	.	.	.	.	.	.	.	.	-0.284951	0.10150	T	-0.325122	0.42009	T	0.339972943067551	0.26622	T	0.849215	0.53152	T	0.2395253	0.46844	0.30826125	0.56845	0.2395253	0.46844	0.30826125	0.56844	-4.64	0.32670	T	.	.	0.187	0.51925	B	.;.	.;.	4.238824	0.64244	24.7	0.99685770924337591	0.79574	0.98974	0.89400	D	AEFDBIJ	0.907110	0.86073	D	0.737644529230296	0.82097	7.679501	0.680844589958572	0.80929	7.408776	0.999999885350259	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	7.776000	0.84252	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.426000	0.27362	0.0783:0.0:0.9217:0.0	12.902	0.57526	941	0.13089	L-fucokinase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	2064.33	97	chr1	74205591	.	G	T	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=1267;ExcessHet=0;FS=4.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.081;SOR=1.108	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	18	0	1	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2360C:p.I787T,FPGT-TNNI3K:NM_001199327:exon23:c.T2360C:p.I787T	.	426	999	89	8	0	105	0.0499287	.	.	.	983822	not_specified|not_provided|TNNI3K-related_disorder|Atrial_conduction_disease	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.015152	0.025815	0.014620	0.000000	0.025862	0.030488	0.041667	0.05263	5680.83	43	chr1	74463486	.	T	C	5680.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.372;DP=1081;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.98;MQRankSum=0;QD=12.19;ReadPosRankSum=0.057;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr1	74472097	74472097	T	C	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A1429G:p.I477V,LRRC53:NM_001382280:exon5:c.A1525G:p.I509V	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0319734591994	.	0.00359425	0.0050	0.0010	0.0068	0	0.0018	0.0073	0	0.0048	0.001533	237	154602	rs61729305	0.0059	0.0053	0.0059	0.0058	0.0080	0.0057	0.0056	0.0077	0.0076	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0080	0.0064	0.0046	0.0047	0.0047	0.0048	0.0046	0.0081	0.0044	0.0043	0.0075	0.0073	0.0012	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0081	0.0047	0.0035	.	.	.	0.574	0.08685	T	.	.	.	.	.	.	0.004547	0.33627	N	0.205299	1	0.81001	D	.	.	.	0.39	0.57419	T	.	.	.	0.097	0.07811	-0.9486	0.41211	T	0.090	0.34628	T	7	0.0049051046	0.00105	T	0.031973	0.53925	D	.	.	.	.	0.200317383148	0.19677	0.005490662921900084	0.00519	.	.	.	.	.	0.001517	0.00960	T	-0.561082	0.00250	T	-0.5729	0.15184	T	0.0195086368587922	0.00655	T	0.312169	0.06100	T	0.020979108	0.00678	0.047809146	0.06966	0.020979108	0.00678	0.047809146	0.06965	-2.717	0.07447	T	.	.	0.071	0.03925	B	.	.	1.283606	0.16839	12.79	0.93930635729086343	0.23978	0.58730	0.30721	D	AEFI	0.123844	0.23964	N	-0.0513275220994506	0.39544	2.333618	0.00791451541929739	0.40080	2.38643	0.00132160600994955	0.08445	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	3.66	0.41111	0.473000	0.21843	0.943000	0.22867	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2588:0.072:0.1344:0.5348	2.357	0.04035	811	0.42639	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2941.83	45	chr1	74472097	.	T	C	2941.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.702;DP=927;ExcessHet=0.119;FS=1.013;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.571;SOR=0.778	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1997,0,1719	17	0	2	0
chr1	74472163	74472163	G	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.C1363A:p.P455T,LRRC53:NM_001382280:exon5:c.C1459A:p.P487T	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0257575540798	.	0.00359425	0.0049	0.0011	0.0068	0	0.0018	0.0070	0	0.0048	0.0015136	234	154602	rs61729310	0.0058	0.0052	0.0058	0.0058	0.0079	0.0056	0.0056	0.0076	0.0075	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0079	0.0064	0.0045	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0075	0.0073	0.0011	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0080	0.0047	0.0035	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	0.015308	0.28282	N	0.261873	1	0.81001	D	.	.	.	0.63	0.53088	T	-0.51	0.15986	N	0.075	0.04913	-0.9603	0.39124	T	0.108	0.39197	T	7	0.006281346	0.00142	T	0.025758	0.48712	D	0.028	0.06331	.	.	0.128392430309	0.12331	0.05114640694569114	0.05056	.	.	.	.	.	0.006838	0.06266	T	-0.59295	0.00161	T	-0.618676	0.11289	T	0.0295997138996185	0.01929	T	0.512749	0.16428	T	0.038801152	0.05237	0.044930782	0.05932	0.038801152	0.05237	0.044930782	0.05931	-3.497	0.16389	T	.	.	0.075	0.05404	B	.	.	0.686234	0.10548	7.258	0.94582537496475061	0.25126	0.71561	0.35066	D	AEFI	0.154549	0.27959	N	-0.482390221116792	0.22658	1.211404	-0.499432534366444	0.22170	1.202838	3.60166759752151E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	0.85	0.18119	1.547000	0.35798	0.308000	0.17052	-0.949000	0.02041	1.000000	0.71638	0.016000	0.20520	0.163000	0.20749	0.3341:0.0:0.4676:0.1984	3.903	0.08671	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2240.83	45	chr1	74472163	.	G	T	2240.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=847;ExcessHet=0.119;FS=0.618;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.531;SOR=0.595	GT:AD:DP:GQ:PL	0/1:34,54:88:99:1492,0,812	17	0	2	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H,LRRC53:NM_001382280:exon4:c.T1133A:p.L378H	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3152.33	149	chr1	74475582	.	A	T	3152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.818;DP=3298;ExcessHet=0;FS=6.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.529;SOR=1.035	GT:AD:DP:GQ:PL	0/0:229,0:229:99:0,120,1800	18	0	1	0
chr1	74480875	74480875	A	G	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon2:c.T86C:p.L29P,LRRC53:NM_001382280:exon3:c.T182C:p.L61P	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.055334561429	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900793612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.013	0.63109	D	.	.	.	.	.	.	0.022231	0.26675	N	0.173017	1	0.81001	D	.	.	.	0.62	0.53302	T	-2.41	0.52938	N	0.697	0.70175	-0.9704	0.37115	T	0.098	0.36780	T	7	0.7303786	0.74257	D	0.055335	0.66196	D	0.256	0.56694	0.688	0.82558	0.591908371553	0.58867	0.784853682621117	0.78436	.	.	.	.	.	0.019136	0.15304	T	0.0460248	0.57831	T	-0.171665	0.57291	T	0.953827857971191	0.64118	D	0.443756	0.12347	T	0.2407524	0.46983	0.33702976	0.59497	0.2407524	0.46982	0.33702976	0.59497	-11.193	0.80706	D	.	.	0.839	0.79163	P	.	.	4.512821	0.70686	25.6	0.99858587720573222	0.93729	0.81834	0.41160	D	AEFGI	0.474690	0.51884	N	0.169556874524073	0.49741	3.171114	0.222771325832424	0.51114	3.296736	0.00123158839198154	0.08362	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.479000	0.52928	6.050000	0.53084	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7741:0.0:0.0797:0.1462	5.902	0.18212	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2346.83	35	chr1	74480875	.	A	G	2346.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.455;DP=782;ExcessHet=0.119;FS=2.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.383;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1174	17	0	2	0
chr1	74572994	74572994	T	C	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.A2716G:p.N906D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00996094648401	.	0.00119808	0.0006	0	0	0	0	1.498e-05	0	0.0043	0.0005304	82	154602	rs533537276	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0002	0.0039	0.0037	0	0	0	2.519e-05	0	0	1.439e-05	0.0003	0.0042	0.0002	0.0002	8.994e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	2.94e-05	0	0.0052	0.699	0.04188	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.78	0.21644	N	0.054	0.02559	-0.9008	0.47910	T	0.004	0.01435	T	9	0.0061151087	0.00138	T	0.009961	0.25923	T	0.008	0.00669	0.304	0.27325	0.0482279557977	0.04254	0.025725490457458065	0.02523	0.0192408906969	0.01881	.	.	.	0.010644	0.09594	T	-0.765103	0.00014	T	-0.87295	0.00715	T	0.00496961474782011	0.00054	T	0.349965	0.07784	T	0.044712055	0.07196	0.05568817	0.09815	0.044712055	0.07196	0.05568817	0.09814	-2.243	0.04254	T	.	.	0.086	0.10497	B	.	.	-0.785266	0.01135	0.053	0.78359934591465441	0.12267	0.02503	0.06991	N	AEFBI	0.056258	0.10386	N	-1.51371430756842	0.01759	0.07703657	-1.51605822007916	0.02220	0.1017886	2.64866370166672E-5	0.03498	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-2.62	0.05793	-1.240000	0.03024	-1.612000	0.05062	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4516:0.1378:0.4106	7.344	0.25827	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2833.33	42	chr1	74572994	.	T	C	2833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.435;DP=975;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.99;SOR=0.733	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K,CRYZ:NM_001130043:exon8:c.G826A:p.E276K,CRYZ:NM_001889:exon9:c.G928A:p.E310K,CRYZ:NM_001130042:exon10:c.G928A:p.E310K	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.000000	0.011696	0.000000	0.008621	0.006098	0.015152	0.07895	3529.79	37	chr1	74706358	.	C	T	3529.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.264;DP=910;ExcessHet=0.3672;FS=1.343;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.42;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	0	3	0
chr1	75137202	75137202	C	G	exonic	LHX8	.	nonsynonymous SNV	LHX8:NM_001256114:exon3:c.C178G:p.P60A,LHX8:NM_001001933:exon4:c.C208G:p.P70A	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	.	0.00199681	0.0009	0	8.914e-05	0	0	0	0	0.0064	0.0007503	116	154602	rs549689179	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	2.987e-05	0	0	0	0	0.0005	3.597e-06	0.0006	0.0058	0.0003	0.0003	0.0001	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0	0	0.0087	0.976	0.11298	T	0.636	0.07059	T	0.088	0.25022	B	0.014	0.16862	B	0.025561	0.26069	N	0.394048	0.837388	0.35012	D	0.695	0.17993	N	-2.16	0.86549	D	-0.57	0.17210	N	0.253	0.28616	-0.9552	0.40060	T	0.172	0.51405	T	10	0.0038308203	0.00072	T	.	.	.	0.192	0.47115	0.27	0.21893	0.532439499797	0.52892	0.22040139921421925	0.21955	0.486956436391	0.47534	0.374518841505	0.21477	T	0.069631	0.33758	T	-0.331458	0.06002	T	-0.246142	0.50197	T	0.0175398925812306	0.00488	T	0.687031	0.29593	T	0.084825054	0.19650	0.12125701	0.29258	0.084825054	0.19650	0.12125701	0.29258	-3.783	0.22152	T	.	.	0.048	0.00127	B	.;.	.;.	0.917225	0.12921	9.428	0.7833638165527842	0.12257	0.46304	0.27730	N	AEFDBHCI	0.234871	0.35756	N	-0.775627960513897	0.13947	0.6908889	-0.645904106115447	0.18319	0.9781313	0.999943475862224	0.47345	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.03	3.15	0.35301	0.468000	0.21763	0.010000	0.13426	0.524000	0.24156	0.000000	0.06391	0.001000	0.17328	0.994000	0.71098	0.0:0.8393:0.0:0.1607	9.943	0.40758	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1586.33	33	chr1	75137202	.	C	G	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=785;ExcessHet=0;FS=1.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.937;SOR=0.814	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1228	18	0	1	0
chr1	75237051	75237051	C	A	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon9:c.G658T:p.D220Y,SLC44A5:NM_001130058:exon11:c.G676T:p.D226Y,SLC44A5:NM_152697:exon11:c.G676T:p.D226Y,SLC44A5:NM_001320287:exon12:c.G550T:p.D184Y,SLC44A5:NM_001320285:exon13:c.G550T:p.D184Y	.	442	1078	2	0	0	2	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0247362275817	7.7e-05	0.000399361	0.0004	0	0.0012	0	0	0.0004	0.0012	0.0006	0.0003558	55	154602	rs143251034	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	6.009e-05	0.0004	0.0034	0	0	0.0016	7.701e-05	0.0005	0.0006	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0006	0.0037	0	0	0	0.0002	0	0.0008	0.013	0.53900	D	0.022	0.57587	D	0.932	0.51990	P	0.781	0.57337	P	0.201571	0.16586	N	0.650480	0.99781	0.44218	D	2.625	0.76847	M	2.84	0.10771	T	-4.37	0.77061	D	0.553	0.57860	-1.0383	0.17832	T	0.045	0.19397	T	10	0.040184677	0.02566	T	0.024736	0.47726	T	0.107	0.30369	.	.	0.220303561663	0.21668	0.7704132106304784	0.76990	0.899688975086	0.70596	0.345719277859	0.17289	T	0.182961	0.53514	T	-0.410651	0.01967	T	-0.460055	0.26594	T	0.154404863715172	0.17448	T	0.923908	0.72182	D	0.14936629	0.34055	0.12105752	0.29212	0.14936629	0.34055	0.12105752	0.29211	-7.867	0.60325	D	.	.	0.165	0.36315	B	.;.	.;.	2.041966	0.25957	16.95	0.97718165147337765	0.35537	0.76251	0.37383	D	AEFI	0.127777	0.24528	N	-0.259225361680746	0.30736	1.716648	-0.424306492684766	0.24287	1.329089	1.17807052483451E-4	0.05269	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.66	-1.47	0.08312	0.888000	0.27904	-0.546000	0.08555	-0.242000	0.07441	0.994000	0.38300	0.000000	0.08366	0.158000	0.20581	0.1119:0.5164:0.0:0.3717	6.567	0.21713	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.002941	0.000000	0.017241	0.000000	0.000000	0.02632	1046.33	38	chr1	75237051	.	C	A	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.034;DP=753;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.138;SOR=0.911	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1060,0,1326	18	0	1	0
chr1	75242989	75242989	T	C	exonic	SLC44A5	.	nonsynonymous SNV	SLC44A5:NM_001320283:exon6:c.A350G:p.E117G,SLC44A5:NM_001130058:exon8:c.A368G:p.E123G,SLC44A5:NM_152697:exon8:c.A368G:p.E123G,SLC44A5:NM_001320287:exon9:c.A242G:p.E81G,SLC44A5:NM_001320285:exon10:c.A242G:p.E81G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00949827056027	.	.	8.327e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs779526816	3.424e-05	3.42e-05	3.952e-05	2.891e-05	0.0002	2.634e-05	2.378e-05	3.346e-05	2.958e-05	0	0	0	0	0	0.0002	4.32e-05	1.658e-05	0	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.02	0.49613	D	0.026	0.55759	D	0.0	0.02946	B	0.001	0.04355	B	0.000137	0.49741	D	0.206023	0.976253	0.81001	D	1.7	0.43825	L	2.19	0.18724	T	-3.09	0.63438	D	0.188	0.20528	-1.0906	0.05433	T	0.033	0.14160	T	10	0.23917201	0.41052	T	0.009498	0.24878	T	0.105	0.29889	0.433	0.48336	0.211220785272	0.20719	0.5993060004556009	0.59861	0.335466672341	0.35550	0.401461750269	0.25272	T	0.162953	0.50783	T	-0.156013	0.27375	T	-0.461878	0.26394	T	0.982545375823975	0.74556	D	0.878012	0.61435	D	0.18506406	0.39851	0.14905143	0.35208	0.18506406	0.39851	0.14905143	0.35207	-8.682	0.65628	D	.	.	0.112	0.22098	B	.;.	.;.	4.044241	0.59893	24.2	0.99759062653516162	0.84931	0.94475	0.61285	D	AEFI	0.767432	0.70330	D	0.0128721356093311	0.42440	2.557153	0.137350182893616	0.46474	2.892932	0.595639919225581	0.21683	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.07	5.07	0.68106	5.855000	0.69252	7.841000	0.70530	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:0.0:1.0	14.135	0.64817	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1253.33	37	chr1	75242989	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=753;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.21;SOR=0.572	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	76868678	76868678	A	G	exonic	ST6GALNAC5	.	nonsynonymous SNV	ST6GALNAC5:NM_001320273:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_001320274:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_030965:exon2:c.A197G:p.Q66R	.	376	1129	16	1	0	18	0.00790861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0005	0.00219649	0.0050	0.0007	0.0027	0	0	0.0018	0	0.0111	0.0013971	216	154602	rs143010807	0.0016	0.0016	0.0013	0.0018	0.0208	0.0015	0.0015	0.0178	0.0166	0.0011	0.0019	0.0009	5.453e-05	0.0001	0.0208	0.0011	0.0021	0.0088	0.0015	0.0015	0.0014	0.0016	0.0098	0.0013	0.0013	0.0075	0.0068	0.0003	0	0.0023	0.0014	0.0002	0.0002	0.0171	0.0017	0.0024	0.0098	0.818	0.02974	T	0.592	0.08161	T	0.0	0.02946	B	0.001	0.04355	B	0.879119	0.07224	N	1.058050	0.999999	0.08975	N	0.69	0.16971	N	1.8	0.25344	T	-0.09	0.08340	N	0.072	0.04547	-0.9746	0.36213	T	0.017	0.06902	T	10	0.0040742457	0.00080	T	.	.	.	0.040	0.10527	.	.	0.0675242888579	0.06100	0.24362056139935523	0.24276	0.365251766803	0.38123	0.643308639526	0.59035	T	0.003651	0.03060	T	-0.709402	0.00032	T	-0.786375	0.02266	T	0.000591769945659934	0.00005	T	0.256074	0.03980	T	0.051826894	0.09575	0.068529576	0.14323	0.051826894	0.09575	0.068529576	0.14323	-3.171	0.12129	T	.	.	0.066	0.02285	B	.	.	1.920179	0.24388	16.38	0.5886146095808017	0.06090	0.23561	0.22116	N	AEFDBCIJ	0.114398	0.22533	N	-0.864118029501418	0.11704	0.5662958	-0.793534210565514	0.14654	0.7667593	0.999976067596103	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.37	2.33	0.27981	0.765000	0.26211	3.148000	0.36512	-0.260000	0.06918	0.339000	0.25666	0.999000	0.35428	0.897000	0.43391	0.5458:0.3315:0.1227:0.0	8.102	0.30022	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029474	0.005208	0.037088	0.071429	0.050000	0.045455	0.012346	0.015152	0.02632	275.33	34	chr1	76868678	.	A	G	275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.778;DP=678;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=0.937;SOR=0.297	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	18	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T,NEXN:NM_144573:exon11:c.G1424C:p.R475T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.09	42	chr1	77935995	.	G	C	184.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=725;ExcessHet=0.7564;FS=181.459;InbreedingCoeff=-0.1272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=0.411;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,8:33:29:0|1:77935995_G_C:29,0,766:77935995	17	0	2	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.09	42	chr1	77935995	.	G	A	184.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=725;ExcessHet=0.7564;FS=181.459;InbreedingCoeff=-0.1272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=0.411;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:25,0:33:29:0|1:77935995_G_C:29,104,892:77935995	17	0	2	0
chr1	77992788	77992788	G	T	exonic	DNAJB4	.	nonsynonymous SNV	DNAJB4:NM_001317100:exon2:c.G13T:p.D5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	.	0	.	0	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	719.33	34	chr1	77992788	.	G	T	719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=720;ExcessHet=0;FS=6.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.127;SOR=1.375	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr1	83870002	83870002	C	T	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon20:c.G2543A:p.R848H,TTLL7:NM_024686:exon21:c.G2624A:p.R875H,TTLL7:NM_001350214:exon22:c.G2624A:p.R875H	.	.	.	.	.	.	.	.	.	.	.	3935896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00505092469521	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs200003317	1.738e-05	2.189e-05	1.521e-05	1.958e-05	3.679e-05	1.193e-05	1.008e-05	1.183e-05	9.62e-06	0	0	0	0	0	0	1.812e-05	3.365e-05	3.679e-05	1.315e-05	1.314e-05	2.57e-05	0	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.122	0.35710	T	0.032	0.20242	B	0.005	0.11217	B	0.038786	0.24244	N	0.420852	0.973597	0.39036	D	0.955	0.23872	L	3.67	0.04188	T	-1.25	0.31576	N	0.135	0.13198	-0.9621	0.38781	T	0.006	0.02055	T	10	0.094806135	0.16886	T	0.005051	0.12784	T	0.034	0.08419	0.377	0.39156	0.208000267992	0.20380	0.6221804598770858	0.62151	0.637893461377	0.57527	0.313076078892	0.12372	T	0.04565	0.27188	T	-0.230902	0.16530	T	-0.569451	0.15500	T	0.226095167112115	0.21764	T	0.811819	0.46320	T	0.09236164	0.21667	0.050060082	0.07778	0.09236164	0.21666	0.050060082	0.07778	-4.375	0.29216	T	.	.	0.100	0.17189	B	.	.	3.737384	0.53497	23.4	0.98915946542680433	0.48472	0.81192	0.40648	D	AEFGI	0.185325	0.31265	N	-0.13538348464087	0.35858	2.065101	0.0394918265354881	0.41568	2.499416	0.0894702033140849	0.16085	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.88	3.69	0.41483	2.408000	0.44227	3.986000	0.40947	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8437:0.0:0.1563	12.167	0.53443	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	33	chr1	83870002	.	C	T	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.191;DP=729;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.163;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1222	18	0	1	0
chr1	83917619	83917619	C	A	exonic	TTLL7	.	nonsynonymous SNV	TTLL7:NM_001350215:exon13:c.G1491T:p.K497N,TTLL7:NM_024686:exon14:c.G1572T:p.K524N,TTLL7:NM_001350214:exon15:c.G1572T:p.K524N	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0108380874614	0.0005	0.000399361	0.0012	9.621e-05	0.0003	0	0.0076	0.0012	0.0078	0.0003	0.0009832	152	154602	rs138340708	0.0008	0.0008	0.0008	0.0008	0.0033	0.0007	0.0007	0.0022	0.0018	0.0002	0.0008	0	0	0.0104	0.0033	0.0004	0.0011	0.0003	0.0012	0.0012	0.0008	0.0016	0.0016	0.0010	0.0010	0.0011	0.0010	9.626e-05	0	0.0016	0	0	0.0103	0	0.0005	0.0019	0	0.147	0.24955	T	0.361	0.22828	T	0.005	0.12996	B	0.003	0.08700	B	0.001124	0.40136	N	0.267769	1	0.08975	N	0.345	0.11182	N	3.77	0.03863	T	-1.24	0.31375	N	0.187	0.27554	-0.9032	0.47650	T	0.003	0.00929	T	10	0.0043030083	0.00087	T	0.010838	0.27831	T	0.028	0.06331	0.198	0.11110	0.12205267543	0.11705	0.13438143115916332	0.13362	0.593760985979	0.54712	0.388342618942	0.23436	T	0.036591	0.24160	T	-0.651319	0.00071	T	-0.779837	0.02458	T	0.0274144757480459	0.01603	T	0.947505	0.79737	D	0.058165114	0.11667	0.04003341	0.04233	0.058165114	0.11667	0.04003341	0.04233	-6.504	0.50317	T	.	.	0.426	0.60973	A	.;.	.;.	1.519347	0.19508	14.30	0.98557547741273144	0.42935	0.23087	0.21961	N	AEFBI	0.258244	0.37682	N	-1.02548241219461	0.08078	0.3774841	-0.958665794858943	0.10722	0.5418767	0.138528252528327	0.17228	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.82	1.4	0.21393	0.269000	0.18354	-0.341000	0.09816	-0.313000	0.06017	0.047000	0.21291	0.000000	0.08366	0.222000	0.22517	0.0:0.5157:0.0:0.4843	8.110	0.30067	944	0.12746	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	876.33	39	chr1	83917619	.	C	A	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.409;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=2.72;SOR=0.62	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	84479292	84479292	C	T	exonic	RPF1	.	nonsynonymous SNV	RPF1:NM_025065:exon1:c.C11T:p.A4V	.	420	1058	43	1	0	45	0.0208237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0032	0.00938498	0.0077	0.0012	0.0048	0.0002	0.0090	0.0052	0.0093	0.0290	0.0062742	970	154602	rs145776320	0.0050	0.0050	0.0044	0.0056	0.0233	0.0049	0.0049	0.0224	0.0221	0.0006	0.0030	0.0019	2.534e-05	0.0087	0.0092	0.0038	0.0051	0.0233	0.0047	0.0047	0.0041	0.0053	0.0236	0.0044	0.0043	0.0201	0.0188	0.0006	0.0504	0.0048	0.0023	0	0.0094	0.0238	0.0048	0.0066	0.0236	0.033	0.44358	D	0.166	0.30828	T	0.0	0.02946	B	0.0	0.01387	B	0.250852	0.15513	N	0.659654	1	0.08975	N	0	0.06538	N	0.76	0.49919	T	-0.57	0.17210	N	0.162	0.19055	-1.0719	0.09001	T	0.025	0.10821	T	10	0.003259182	0.00056	T	.	.	.	0.096	0.27654	.	.	0.680047386688	0.67732	0.22224660766402687	0.22139	0.12998121625	0.14663	0.343664884567	0.16985	T	0.009167	0.08364	T	-0.532343	0.00372	T	-0.521194	0.20173	T	0.00951397986744732	0.00123	T	0.462454	0.13627	T	0.043112393	0.06663	0.059958003	0.11339	0.043112393	0.06662	0.059958003	0.11338	-4.719	0.33634	T	.	.	0.111	0.22391	B	.;.	.;.	1.868132	0.23728	16.13	0.99085465745944101	0.52075	0.18007	0.20080	N	ALL	0.089110	0.18063	N	-0.735227874754794	0.15036	0.7543253	-0.652024510879595	0.18165	0.9692089	0.999999999999662	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	6.08	4.17	0.48303	-0.126000	0.10539	0.504000	0.19021	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1265:0.5625:0.2247:0.0863	4.393	0.10780	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.010870	0.002924	0.000000	0.000000	0.021472	0.018939	0.02632	887.33	39	chr1	84479292	.	C	T	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.805;DP=727;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.044;SOR=0.387	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1033	18	0	1	0
chr1	84532908	84532908	T	C	exonic	SPATA1	.	nonsynonymous SNV	SPATA1:NM_001310156:exon7:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946256060	3.572e-05	3.625e-05	3.665e-05	3.476e-05	0.0014	2.748e-05	2.48e-05	0.0007	0.0005	0.0003	0	0	0	0	0.0014	2.316e-05	0.0001	1.262e-05	1.972e-05	1.971e-05	2.571e-05	1.346e-05	4.828e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0787746	0.12596	T	.	.	.	.	.	.	.	.	.	0.07311407128983613	0.07248	.	.	0.37598529458	0.21687	T	.	.	.	.	.	.	.	.	.	.	.	.	0.531147	0.17633	T	0.031139975	0.02900	0.099782385	0.23836	0.031139975	0.02900	0.099782385	0.23835	-2.55	0.06132	T	.	.	0.050	0.00127	B	.	.	-0.118604	0.03533	0.674	0.80998638127832168	0.13470	0.00906	0.03544	N	AEFI	.	.	.	.	.	.	.	.	.	2.76938924200201E-5	0.03498	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0862078	0.19583	4.63	-3.1	0.04991	-0.566000	0.06013	-0.664000	0.07966	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1577:0.405:0.1617:0.2756	1.965	0.03187	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr1	84532908	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.945;DP=706;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.533;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr1	84555112	84555112	G	A	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon7:c.C1045T:p.R349W	.	434	1079	9	0	0	9	0.00415321	.	.	.	732622	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.229	.	7.7e-05	0.00638978	0.0028	0	0.0003	0	0	7.494e-05	0	0.0199	0.002445	378	154602	rs147594119	0.0012	0.0012	0.0007	0.0017	0.0187	0.0011	0.0011	0.0179	0.0176	8.962e-05	0	0	7.561e-05	0	0.0007	3.868e-05	0.0012	0.0187	0.0007	0.0007	0.0004	0.0010	0.0216	0.0006	0.0006	0.0182	0.0170	4.818e-05	0	0	0	0	0	0	4.412e-05	0.0005	0.0216	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.001699	0.38271	N	0.270866	0.967171	0.38577	D	2.98	0.85499	M	1.47	0.31987	T	-5.8	0.88148	D	0.33	0.37093	-0.8683	0.50657	T	0.147	0.47147	T	10	0.014495879	0.00305	T	.	.	.	0.229	0.52916	.	.	0.701561391093	0.69897	0.8264905981154119	0.82607	0.383263448751	0.39654	0.411233872175	0.26627	T	0.381955	0.74415	T	-0.359348	0.04167	T	-0.274018	0.47412	T	0.148192603036372	0.16958	T	0.941606	0.78180	D	0.42808107	0.62626	0.42399907	0.66253	0.42808107	0.62627	0.42399907	0.66253	-12.834	0.88667	D	.	.	0.156	0.34449	B	.	.	4.206626	0.63523	24.6	0.99913671902212386	0.98238	0.83434	0.42551	D	AEFBI	0.633341	0.61362	D	0.594938386766631	0.72858	5.872322	0.514048698421059	0.68935	5.289138	0.00100141263201572	0.08115	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.56	3.49	0.39065	1.352000	0.33637	1.415000	0.26314	0.674000	0.70861	0.985000	0.35982	0.481000	0.25102	0.458000	0.28074	0.0:0.0:0.6422:0.3578	12.667	0.56211	668	0.61153	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1379.33	34	chr1	84555112	.	G	A	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.583;DP=790;ExcessHet=0;FS=2.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.55;SOR=0.507	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr1	84563286	84563286	C	A	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon6:c.G928T:p.D310Y	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0003	0.0091853	0.0028	0.0004	8.694e-05	0.0361	0	1.509e-05	0.0011	0.0010	0.0027878	431	154602	rs3768249	0.0010	0.0011	0.0011	0.0010	0.0295	0.0010	0.0010	0.0281	0.0275	0.0002	0.0002	0	0.0295	0	0	1.371e-05	0.0037	0.0015	0.0017	0.0018	0.0018	0.0017	0.0411	0.0016	0.0015	0.0366	0.0348	0.0002	0	0.0012	0	0.0411	0	0	4.41e-05	0.0028	0.0035	0.035	0.43708	D	0.039	0.51112	D	0.608	0.39540	P	0.332	0.42135	B	0.476859	0.12212	N	0.786268	1	0.08975	N	1.7	0.43825	L	3.37	0.05847	T	-1.64	0.39314	N	0.341	0.38232	-0.9761	0.35882	T	0.009	0.03054	T	10	0.0049431026	0.00106	T	.	.	.	0.082	0.23913	.	.	0.44143026662	0.43763	0.582159272314302	0.58144	0.0845940308932	0.09560	0.263608008623	0.05328	T	0.107899	0.42048	T	-0.564628	0.00238	T	-0.554549	0.16892	T	0.0212813050440759	0.00830	T	0.655934	0.26583	T	0.08124756	0.18660	0.0684666	0.14300	0.08124756	0.18659	0.0684666	0.14300	-6.275	0.48524	T	.	.	0.073	0.04477	B	.	.	2.373872	0.30465	18.44	0.9799744598131731	0.37453	0.15986	0.19176	N	AEFBI	0.192335	0.31950	N	-0.439909643807143	0.24084	1.297916	-0.481160574120429	0.22672	1.232666	0.530703181633578	0.21173	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.5	-0.422	0.11714	0.124000	0.15557	0.030000	0.13718	-0.220000	0.07995	0.000000	0.06391	0.002000	0.18203	0.977000	0.56843	0.0:0.5353:0.2117:0.253	7.628	0.27393	660	0.61921	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	526.33	45	chr1	84563286	.	C	A	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.841;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.528;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	18	0	1	0
chr1	84570699	84570699	G	C	exonic	CTBS	.	nonsynonymous SNV	CTBS:NM_004388:exon2:c.C199G:p.Q67E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00201017570942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.322e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.999358	0.07976	N	0.999746	1	0.08975	N	0.665	0.16292	N	1.29	0.35775	T	0.12	0.05604	N	0.126	0.11912	-0.9691	0.37386	T	0.017	0.07187	T	10	0.04462433	0.03441	T	0.00201	0.03642	T	0.051	0.14325	0.414	0.45216	0.245660935333	0.24156	0.616807181252951	0.61612	0.96923454907	0.73300	0.27088996768	0.06257	T	0.096466	0.39830	T	-0.310611	0.07695	T	-0.683948	0.06745	T	0.0261731651112609	0.01429	T	0.718628	0.33152	T	0.032754242	0.03360	0.048521314	0.07222	0.032754242	0.03359	0.048521314	0.07222	-1.808	0.02533	T	.	.	0.066	0.02118	B	.	.	0.781841	0.11518	8.118	0.76224255667896679	0.11382	0.09167	0.14977	N	AEFDGBHCI	0.055038	0.10058	N	-0.918809822348359	0.10402	0.4969282	-0.835755737648614	0.13631	0.7081323	0.999999298109266	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.59	0.835	0.18020	0.384000	0.20396	0.000000	0.13247	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.3825:0.3311:0.2865	9.523	0.38312	658	0.62094	Chitinase II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	40	chr1	84570699	.	G	C	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=739;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=1.16;SOR=0.346	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr1	85045162	85045162	T	C	exonic	MCOLN3	.	nonsynonymous SNV	MCOLN3:NM_001253693:exon2:c.A199G:p.I67V,MCOLN3:NM_018298:exon2:c.A199G:p.I67V	.	.	.	.	.	.	.	.	.	.	.	3288954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0184891491712	.	0.000399361	6.646e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs199633578	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.312e-05	0.0004	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	0	0	0.0010	0.751	0.09346	T	0.754	0.06812	T	0.293	0.32367	B	0.047	0.29270	B	0.000000	0.84330	D	0.048819	0.999168	0.81001	D	1.315	0.32790	L	-1.16	0.78082	T	-0.51	0.17624	N	0.149	0.19325	-1.0175	0.24528	T	0.099	0.36805	T	10	0.037047923	0.02036	T	0.018489	0.40571	T	0.160	0.41473	0.38	0.39645	0.467161347466	0.46340	0.4383197432043594	0.43748	0.0625190691864	0.06955	0.616632163525	0.55252	T	0.125614	0.45143	T	-0.252584	0.13783	T	-0.270595	0.47760	T	0.066375834273374	0.08132	T	0.835117	0.50455	T	0.0971925	0.22905	0.099113785	0.23652	0.0971925	0.22905	0.099113785	0.23651	-5.269	0.39635	T	.	.	0.101	0.25527	B	.;.;.	.;.;.	2.516915	0.32515	19.07	0.87120555197383764	0.17002	0.88738	0.48810	D	AEFBI	0.516604	0.54307	D	-0.253790643850171	0.30952	1.730829	-0.0437030632934815	0.37763	2.215555	0.290441240389334	0.19081	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	1.404000	0.34232	5.012000	0.46677	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.1207:0.0:0.1988:0.6805	8.009	0.29501	649	0.63102	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	401.33	34	chr1	85045162	.	T	C	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.682;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.623;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1120	18	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	872.8	78	chr1	85158755	.	A	G	872.8	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.11;DP=1169;ExcessHet=0.7564;FS=87.916;InbreedingCoeff=-0.1339;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=0.078;SOR=8.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,21:60:99:0|1:85158755_A_G:336,0,1116:85158755	14	0	4	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,21:60:99:0|1:85158755_A_G:336,0,1116:85158755	4	0	11	4
chr1	85707790	85707792	CTC	-	exonic	ZNHIT6	.	nonframeshift deletion	ZNHIT6:NM_017953:exon1:c.493_495del:p.E165del,ZNHIT6:NM_001170670:exon2:c.376_378del:p.E126del	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	2.59e-05	4	154602	rs767351231	3.01e-05	3.078e-05	3.131e-05	2.888e-05	0.0007	2.281e-05	2.032e-05	0.0002	0.0001	2.987e-05	0	0	5.038e-05	0	0.0007	2.968e-05	3.311e-05	2.319e-05	6.575e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5683.29	74	chr1	85707789	.	TCTC	T	5683.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=1893;ExcessHet=0;FS=0.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=1.43;SOR=0.736	GT:AD:DP:GQ:PL	0/1:155,147:302:99:5697,0,6024	18	0	1	0
chr1	85707951	85707951	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G334A:p.A112T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00573583454862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.395	0.15255	T	0.024	0.19075	B	0.002	0.06944	B	0.733295	0.09837	N	0.837603	1	0.08975	N	0.35	0.11930	N	0.92	0.44461	T	-0.42	0.14193	N	0.023	0.00407	-0.9848	0.33879	T	0.014	0.05753	T	10	0.03003785	0.01130	T	0.005736	0.14862	T	0.075	0.21907	0.137	0.04097	0.176091768786	0.17195	0.013701614678578685	0.01328	0.159469905242	0.17994	0.230211660266	0.01984	T	0.012627	0.11064	T	-0.351445	0.04637	T	-0.742603	0.03782	T	0.0883192062500711	0.11016	T	0.594241	0.21993	T	0.030879507	0.02829	0.034323238	0.02478	0.030879507	0.02829	0.034323238	0.02478	-3.928	0.22723	T	.	.	0.068	0.02733	B	.	.	1.512734	0.19433	14.26	0.96451198206309108	0.29865	0.03353	0.08440	N	AEFDGBCI	0.045321	0.07398	N	-1.00024958380464	0.08598	0.4037839	-0.97419444515341	0.10367	0.5216809	0.99998628763225	0.51787	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.08	-0.188	0.12612	0.348000	0.19784	-0.242000	0.10582	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.2773:0.2667:0.222:0.2339	0.200	0.00134	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	405.83	252	chr1	85707951	.	C	T	405.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.609;DP=2253;ExcessHet=0.119;FS=121.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.24;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:264,0:264:99:.:.:0,120,1800:.	17	0	2	0
chr1	85707957	85707957	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G328A:p.E110K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0473222998793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.096	0.25489	B	0.021	0.19346	B	0.028595	0.25580	N	0.273382	1	0.81001	D	2.535	0.73915	M	0.11	0.61208	T	-0.83	0.22727	N	0.39	0.43126	-1.0103	0.26823	T	0.065	0.26807	T	10	0.13709101	0.26079	T	0.047322	0.62870	D	0.040	0.10527	0.249	0.18602	0.699699257951	0.69710	0.07503714116849927	0.07439	0.235972541156	0.26139	0.427724897861	0.28898	T	0.046191	0.27349	T	-0.0859447	0.38743	T	-0.36123	0.37910	T	0.966824114322662	0.67708	D	0.714629	0.32694	T	0.11260584	0.26600	0.13793339	0.32956	0.11260584	0.26600	0.13793339	0.32955	-6.336	0.49007	T	.	.	0.072	0.04277	B	.	.	3.658900	0.51965	23.2	0.99865678324144158	0.94366	0.63357	0.32064	D	AEFDGBCI	0.107059	0.21341	N	-0.245718301295972	0.31274	1.752025	-0.127505101155751	0.34286	1.970495	0.999998449053091	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.45	3.53	0.39533	3.258000	0.51209	4.594000	0.43970	0.549000	0.26987	0.973000	0.34540	1.000000	0.68203	0.083000	0.17415	0.0:0.7926:0.0:0.2074	6.937	0.23652	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	348.05	36	chr1	85707957	.	C	T	348.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.329;DP=3027;ExcessHet=0;FS=222.159;InbreedingCoeff=-0.054;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.86;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800:.	17	0	1	1
chr1	85707960	85707960	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G325A:p.D109N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0158238405416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296798266	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	1.316e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.004	0.65419	D	0.061	0.45530	T	0.421	0.35387	B	0.056	0.26147	B	0.941725	0.08349	N	0.968057	1	0.81001	D	1.845	0.48678	L	0.87	0.46412	T	-0.56	0.17003	N	0.11	0.09631	-1.0867	0.06102	T	0.035	0.15204	T	10	0.13313776	0.25340	T	0.015824	0.36761	T	0.113	0.31778	0.154	0.05752	0.62384306378	0.62078	0.007471984276343018	0.00713	0.244862958667	0.27001	0.318337738514	0.13169	T	0.022176	0.17144	T	-0.283612	0.10288	T	-0.645166	0.09297	T	0.79849898815155	0.46251	D	0.743426	0.36288	T	0.11163828	0.26380	0.09794794	0.23333	0.11163828	0.26380	0.09794794	0.23332	-4.797	0.34556	T	.	.	0.079	0.07272	B	.	.	3.602490	0.50895	23.0	0.99779722953633698	0.86693	0.63572	0.32131	D	AEFDGBCI	0.121443	0.23611	N	-0.117702964250005	0.36622	2.11932	0.0136035711438946	0.40346	2.406332	0.999999032640875	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	3.46	0.38718	2.184000	0.42205	1.224000	0.24997	0.549000	0.26987	1.000000	0.71638	0.424000	0.24822	0.073000	0.16832	0.0:0.8271:0.1729:0.0	12.301	0.54195	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	346.33	36	chr1	85707960	.	C	T	346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.576;DP=1411;ExcessHet=0;FS=123.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.21;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr1	85707961	85707961	C	G	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0420223046045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.017	0.60337	D	0.392	0.34646	B	0.065	0.27321	B	0.085514	0.20638	N	0.403834	1	0.81001	D	2.565	0.75005	M	0.12	0.61089	T	-0.73	0.20576	N	0.16	0.16725	-1.0797	0.07407	T	0.052	0.22269	T	10	0.12984544	0.24708	T	0.042022	0.60244	D	0.029	0.06676	0.223	0.14665	0.752368004684	0.75013	0.028324828296545347	0.02782	0.375349522328	0.38988	0.404625177383	0.25712	T	0.050025	0.28477	T	-0.196015	0.21382	T	-0.519338	0.20361	T	0.787380993366241	0.45518	D	0.69993	0.30971	T	0.15530823	0.35107	0.098456666	0.23474	0.15530823	0.35106	0.098456666	0.23473	-7.921	0.60531	D	.	.	0.225	0.45641	B	.	.	2.667120	0.34762	19.72	0.99570277834660381	0.72318	0.67347	0.33400	D	AEFDGBCI	0.118880	0.23227	N	-0.345900836909244	0.27423	1.504439	-0.283810563840102	0.28631	1.59787	0.999986578486917	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	0.615	0.16784	0.378000	0.20298	0.165000	0.15451	0.549000	0.26987	0.999000	0.42656	0.248000	0.23899	0.069000	0.16583	0.0:0.5216:0.0:0.4784	7.211	0.25111	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	349.33	36	chr1	85707961	.	C	G	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.125;DP=1410;ExcessHet=0;FS=123.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.3;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr1	86156379	86156379	G	T	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_152890:exon1:c.C18A:p.H6Q	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0242873985412	.	.	9.97e-05	0	0	0	0	1.502e-05	0	0.0007	8.41e-05	13	154602	rs761695812	5.067e-05	5.062e-05	3.543e-05	6.607e-05	0.0007	4.129e-05	3.782e-05	0.0005	0.0005	0	0	0	0	0	0.0003	1.17e-05	4.972e-05	0.0007	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.297	0.14645	T	0.309	0.19782	T	0.003	0.11197	B	0.004	0.10090	B	0.066484	0.21807	N	0.234937	0.994254	0.23556	N	1.06	0.26948	L	-2.59	0.89822	D	-0.2	0.39119	N	0.111	0.09772	-0.8540	0.51689	T	0.268	0.63950	T	10	0.089963615	0.15630	T	0.024287	0.47276	T	0.155	0.40530	0.373	0.38503	0.489243007833	0.48558	0.0837471414430937	0.08308	0.0340173804989	0.03570	0.466354131699	0.34181	T	0.007844	0.07220	T	-0.214942	0.18687	T	-0.185732	0.55989	T	0.0639157215242045	0.07769	T	0.410359	0.15921	T	0.111010514	0.26236	0.13949916	0.33281	0.111010514	0.26236	0.13949916	0.33280	-2.955	0.09705	T	.	.	0.095	0.31228	B	.;.	.;.	2.638082	0.34320	19.59	0.88078132891201166	0.17700	0.56736	0.30194	D	AEFDBCIJ	0.476697	0.52000	N	-0.187477024353087	0.33655	1.911855	0.0201699246904214	0.40654	2.42958	0.999998677584072	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.76	4.76	0.60189	4.017000	0.56879	9.795000	0.81665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.806:0.194	10.504	0.44011	519	0.74455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	486.33	40	chr1	86156379	.	G	T	486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.8;SOR=0.643	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1430	18	0	1	0
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y	.	423	1086	12	0	1	13	0.00549451	.	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1560.33	34	chr1	86438966	.	G	T	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=767;ExcessHet=0;FS=3.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.391;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	18	0	1	0
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.016304	0.002924	0.050000	0.017241	0.006098	0.015152	0.02632	1646.33	34	chr1	86489017	.	A	G	1646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.622;DP=718;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.272;SOR=0.482	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr1	86499671	86499671	C	T	exonic	CLCA1	.	stopgain	CLCA1:NM_001285:exon14:c.C2371T:p.R791X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.711e-05	0	0	0	0	1.552e-05	0	6.27e-05	1.29e-05	2	154602	rs753192579	7.694e-06	9.579e-06	2.786e-06	1.264e-05	4.73e-05	4.13e-06	3.02e-06	1.604e-05	9.44e-06	0	2.313e-05	0	0	0	0	4.596e-06	1.689e-05	4.73e-05	1.315e-05	1.314e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.095056	0.20142	N	0.471731	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303389	0.83237	D	0.380789	0.91460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	8.330886	0.97437	37	0.98723033421355921	0.45230	0.35694	0.25361	N	AEFBCI	0.142983	0.26557	N	0.291890934713237	0.55736	3.737806	0.056161806610033	0.42370	2.561598	0.0155549774641724	0.12727	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	-4.05	0.03730	0.444000	0.21376	0.020000	0.13575	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.997000	0.79791	0.5308:0.2151:0.0999:0.1542	3.088	0.05904	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2144.33	33	chr1	86499671	.	C	T	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=777;ExcessHet=0;FS=11.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.783;SOR=1.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1215	18	0	1	0
chr1	86560319	86560319	C	T	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon3:c.C409T:p.L137F	.	427	1070	24	1	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00244206833483	0.0008	0.000199681	0.0011	0.0002	0.0008	0	0	0.0016	0.0056	0.0010	0.0011125	172	154602	rs55712824	0.0010	0.0010	0.0010	0.0011	0.0322	0.0010	0.0010	0.0285	0.0270	0.0013	0.0018	0.0004	2.519e-05	3.744e-05	0.0322	0.0008	0.0023	0.0013	0.0011	0.0011	0.0012	0.0011	0.0024	0.0010	0.0009	0.0018	0.0016	0.0005	0.0044	0.0024	0.0009	0	9.425e-05	0.0238	0.0012	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000135	0.49741	N	0.175187	1	0.81001	D	-3.32	0.00005	N	3.15	0.07820	T	4.44	0.00038	N	0.113	0.10056	-0.9399	0.42632	T	0.001	0.00348	T	10	0.004258901	0.00085	T	0.002442	0.04813	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.38250703500181077	0.38165	0.0722242068583	0.08101	0.392732053995	0.24053	T	0.045084	0.27013	T	-0.646459	0.00076	T	-0.725997	0.04511	T	0.0125906612122404	0.00210	T	0.456654	0.13107	T	0.036146015	0.04390	0.04545757	0.06119	0.036146015	0.04390	0.04545757	0.06119	2.739	0.00027	T	.	.	0.057	0.00533	B	.	.	-0.329020	0.02492	0.292	0.13663901923835356	0.00276	0.07556	0.13568	N	AEFGBI	0.031100	0.03257	N	-1.18467785776454	0.05232	0.2380014	-0.903761612092136	0.12006	0.6150653	7.15270857349529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.186	0.12620	0.913000	0.28233	-0.401000	0.09410	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.850000	0.40195	0.1139:0.0658:0.2095:0.6108	4.55	0.11507	808	0.43318	Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037261	0.050505	0.025815	0.087719	0.050000	0.077586	0.000000	0.018939	0.02632	1519.33	36	chr1	86560319	.	C	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=787;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.535;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr1	86915097	86915099	GCG	-	exonic	HS2ST1	.	nonframeshift deletion	HS2ST1:NM_001134492:exon1:c.61_63del:p.A21del,HS2ST1:NM_012262:exon1:c.61_63del:p.A21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1038.29	35	chr1	86915096	.	CGCG	C	1038.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.772;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-2.203;SOR=0.735	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1443	18	0	1	0
chr1	87084271	87084271	T	G	exonic	HS2ST1	.	nonsynonymous SNV	HS2ST1:NM_001134492:exon3:c.T441G:p.D147E,HS2ST1:NM_012262:exon3:c.T441G:p.D147E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0400668192228	.	0.000199681	4.139e-05	0	0	0	0	7.523e-05	0	0	3.88e-05	6	154602	rs571909404	2.781e-05	2.942e-05	2.355e-05	3.211e-05	3.383e-05	2.097e-05	1.846e-05	2.496e-05	2.179e-05	3.039e-05	0	0	0	0	0	3.383e-05	3.359e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.027	0.46513	D	0.089	0.47336	T	0.5	0.37145	P	0.336	0.42263	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.81	0.47622	L	-0.85	0.74371	T	-2.75	0.58407	D	0.982	0.99181	-0.5906	0.65197	T	0.247	0.61565	T	10	0.7588494	0.76190	D	0.040067	0.59167	D	0.609	0.84666	0.861	0.95829	0.933629599301	0.93294	0.8171040682307386	0.81666	0.756635898776	0.64038	0.78308314085	0.79393	T	0.812567	0.95331	D	0.178157	0.71873	D	0.204037	0.83349	D	0.382405943372336	0.28275	T	0.915508	0.69822	D	0.41327035	0.61641	0.26556066	0.52390	0.41327035	0.61642	0.26556066	0.52389	-9.818	0.72815	D	.	.	0.603	0.69016	P	.;.;.;.	.;.;.;.	3.374112	0.46641	22.3	0.99137984930524847	0.53437	0.88182	0.47997	D	ALL	0.640894	0.61842	D	0.136869522453242	0.48190	3.034529	0.219221268009919	0.50913	3.278654	0.999744461761775	0.42466	0.758104	0.99027	0	0.774882	0.99574	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.68	0.58319	2.382000	0.43999	2.386000	0.32514	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1535:0.0:0.8465	9.435	0.37800	517	0.74620	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	493.33	41	chr1	87084271	.	T	G	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.762;DP=748;ExcessHet=0;FS=2.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.33;SOR=0.7	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1121	18	0	1	0
chr1	88983535	88983535	G	A	exonic	RBMXL1	.	nonsynonymous SNV	RBMXL1:NM_019610:exon2:c.C292T:p.P98S,RBMXL1:NM_001162536:exon3:c.C292T:p.P98S	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0088	0.00299521	0.0073	0.0012	0.0032	0.0001	0.0073	0.0114	0.0033	0.0016	0.0072573	1122	154602	rs113402009	0.0087	0.0087	0.0088	0.0085	0.0096	0.0085	0.0085	0.0095	0.0094	0.0012	0.0035	0.0250	0	0.0096	0.0052	0.0096	0.0083	0.0012	0.0065	0.0065	0.0067	0.0062	0.0098	0.0061	0.0060	0.0092	0.0090	0.0016	0.0055	0.0037	0.0242	0	0.0077	0.0068	0.0098	0.0057	0.0014	0.243	0.17526	T	0.298	0.20486	T	0.917	0.50750	P	0.521	0.48239	P	0.000390	0.44960	U	0.148304	1	0.81001	D	1.495	0.37439	L	-0.76	0.73417	T	-1.72	0.40850	N	0.248	0.28146	-0.9217	0.45320	T	0.171	0.51277	T	10	0.006085187	0.00137	T	.	.	.	0.166	0.42578	.	.	0.773923737282	0.77185	0.35326216389277176	0.35240	0.409694445315	0.41782	0.538016200066	0.44165	T	0.017882	0.14511	T	-0.456526	0.01033	T	-0.418157	0.31286	T	0.0301630122543435	0.02015	T	0.723828	0.33737	T	0.039401993	0.05434	0.049239166	0.07482	0.039401993	0.05433	0.049239166	0.07482	-7.839	0.59968	D	.	.	0.092	0.14108	B	.;.;.	.;.;.	1.450331	0.18712	13.89	0.92035806174464796	0.21376	0.55361	0.29845	D	AEFDBCI	0.090827	0.18402	N	-0.253051684126263	0.30981	1.732766	-0.421397819206603	0.24370	1.334144	0.999894782523669	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.76	0.778	0.17688	2.792000	0.47528	9.791000	0.81645	0.269000	0.18496	1.000000	0.71638	1.000000	0.68203	0.029000	0.12982	0.2429:0.0:0.7571:0.0	3.970	0.08940	813	0.42397	.;.;.	.	.	.	.	rs113402009	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.015152	0.004076	0.008772	0.000000	0.008621	0.000000	0.003788	0.02632	1539.33	37	chr1	88983535	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.415;DP=850;ExcessHet=0;FS=0.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=3.06;QD=15.55;ReadPosRankSum=-0.608;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr1	88983540	88983540	G	A	exonic	RBMXL1	.	nonsynonymous SNV	RBMXL1:NM_019610:exon2:c.C287T:p.P96L,RBMXL1:NM_001162536:exon3:c.C287T:p.P96L	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00740590457601	.	0.000599042	0.0007	9.612e-05	0.0002	0	0	1.498e-05	0	0.0046	0.0005369	83	154602	rs530375965	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	5.974e-05	4.472e-05	0	0	0	0.0002	4.496e-06	0.0004	0.0055	0.0002	0.0002	6.425e-05	0.0003	0.0046	0.0001	9.698e-05	0.0031	0.0026	7.221e-05	0	0	0	0	0	0	0	0	0.0046	0.055	0.38407	T	0.112	0.37037	T	0.176	0.28893	B	0.016	0.17743	B	0.000000	0.84330	U	0.000000	1	0.81001	D	1.18	0.29980	L	-0.79	0.73739	T	-3.23	0.65056	D	0.232	0.26354	-1.0652	0.10502	T	0.113	0.40399	T	10	0.00784272	0.00178	T	0.007406	0.19657	T	0.133	0.36157	0.274	0.22528	0.51058355623	0.50700	0.3378849448248356	0.33701	0.407775190344	0.41625	0.58545589447	0.50854	T	0.072781	0.34538	T	-0.0542543	0.43800	T	-0.315709	0.43042	T	0.108613739184792	0.13279	T	0.60154	0.25169	T	0.11085181	0.26199	0.09576657	0.22728	0.11085181	0.26199	0.09576657	0.22727	-8.759	0.66132	D	.	.	0.079	0.12084	B	.;.;.	.;.;.	2.128883	0.27101	17.35	0.69473496852979943	0.08984	0.62528	0.31808	D	AEFDBCI	0.101745	0.20428	N	-0.636241439720945	0.17864	0.9228361	-0.695080462839466	0.17082	0.9067481	0.99941735957277	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.76	0.688	0.17190	4.852000	0.62602	2.881000	0.35329	0.269000	0.18496	1.000000	0.71638	0.999000	0.35428	0.034000	0.13613	0.0:0.0:0.6507:0.3493	5.054	0.13861	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	37	chr1	88983540	.	G	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=1027;ExcessHet=0;FS=3.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.82;MQRankSum=3.23;QD=10.96;ReadPosRankSum=1.05;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr1	88983825	88983825	-	TTTTTTTTTTT	exonic	RBMXL1	.	startloss	RBMXL1:NM_019610:exon2:c.1_2insAAAAAAAAAAA:p.M1?,RBMXL1:NM_001162536:exon3:c.1_2insAAAAAAAAAAA:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0006	0.0002	0.0006	0.0006	0.0002	0	0.0001	3.84e-05	1	26028	rs772008437	5.336e-06	0.0017	3.565e-06	7.1e-06	3.931e-05	1.92e-06	1.26e-06	1.11e-06	7.5e-07	3.931e-05	2.77e-05	0	0	0	0	4.73e-06	0	0	5.196e-05	0.0002	2.881e-05	7.656e-05	0.0002	2.356e-05	1.685e-05	5.405e-05	3.53e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	766.48	114	chr1	88983825	.	A	ATTTTTTTTTTT	766.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.337;DP=1931;ExcessHet=0.3672;FS=4.551;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-8.05;QD=2.27;ReadPosRankSum=-0.246;SOR=1.204	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	17	0	2	0
chr1	88983825	88983825	-	TTTTTTTTTTTT	exonic	RBMXL1	.	nonframeshift insertion	RBMXL1:NM_019610:exon2:c.1_2insAAAAAAAAAAAA:p.M1M,RBMXL1:NM_001162536:exon3:c.1_2insAAAAAAAAAAAA:p.M1M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0003	0.0004	0	0.0002	0	7.479e-05	.	.	.	rs772008437	1.699e-05	0.0038	2.15e-05	1.25e-05	7.993e-05	1.087e-05	8.76e-06	1.322e-05	7.54e-06	7.993e-05	0	0	0	0	0	1.661e-05	4.337e-05	1.429e-05	0.0014	0.0062	0.0015	0.0013	0.0051	0.0012	0.0012	0.0045	0.0043	0.0051	0	0.0007	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	766.48	114	chr1	88983825	.	A	ATTTTTTTTTTTT	766.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=1931;ExcessHet=0.3672;FS=4.551;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-8.05;QD=2.27;ReadPosRankSum=-0.246;SOR=1.204	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr1	89114144	89114144	C	T	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon7:c.G1021A:p.V341M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00546475089272	0.0038	0.000399361	0.0042	0.0012	0.0022	0	0.0100	0.0060	0	0.0001	0.0041009	634	154602	rs147615005	0.0055	0.0055	0.0056	0.0053	0.0064	0.0054	0.0053	0.0062	0.0062	0.0008	0.0017	0	0	0.0095	0.0010	0.0064	0.0051	0.0001	0.0040	0.0040	0.0041	0.0038	0.0064	0.0037	0.0036	0.0059	0.0057	0.0011	0.0088	0.0022	0	0	0.0067	0.0068	0.0064	0.0047	0	0.043	0.41364	D	0.077	0.42436	T	0.953	0.54283	P	0.9	0.63913	P	0.430099	0.12759	U	0.612950	0.999783	0.20372	N	3.12	0.87914	M	4.28	0.02487	T	-2.18	0.49187	N	0.1	0.08227	-1.0029	0.29080	T	0.011	0.04274	T	10	0.005997449	0.00135	T	0.005465	0.14045	T	0.065	0.18881	.	.	0.197625483188	0.19356	0.05866540553369189	0.05807	0.424400540773	0.42871	0.449562400579	0.31884	T	0.108587	0.42174	T	-0.620938	0.00109	T	-0.660286	0.08247	T	0.0786442239477069	0.09812	T	0.816518	0.47234	T	0.071964584	0.15972	0.13160858	0.31600	0.071964584	0.15972	0.13160858	0.31599	-6.703	0.51833	T	.	.	0.153	0.33913	B	.	.	2.514069	0.32476	19.05	0.99802585090619844	0.88728	0.04356	0.09925	N	AEFBI	0.062638	0.12053	N	0.0310254316872676	0.43269	2.623285	-0.150773086500086	0.33378	1.90872	0.0025131035725993	0.09495	0.706548	0.73137	0	0.659464	0.62310	0	0.315538	0.05692	2	0.714379	0.83352	0	.	.	3.85	0.702	0.17269	-0.137000	0.10369	-4.883000	0.01942	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.846000	0.39970	0.1763:0.371:0.3453:0.1075	2.655	0.04704	721	0.55360	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	3008.33	44	chr1	89114144	.	C	T	3008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=826;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.651;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1371	18	0	1	0
chr1	89133439	89133439	T	A	exonic	GBP7	.	nonsynonymous SNV	GBP7:NM_207398:exon10:c.A1481T:p.K494M	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0335627385225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	9.303e-05	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.077	0.42436	T	0.273	0.31830	B	0.127	0.32738	B	0.194822	0.16751	N	0.600496	1	0.08975	N	1.78	0.46185	L	0.18	0.60361	T	-2.98	0.62008	D	0.295	0.33360	-1.0000	0.29917	T	0.073	0.29483	T	10	0.13586143	0.25851	T	0.033563	0.55073	D	0.103	0.29403	.	.	0.208000267992	0.20380	0.17190995131581271	0.17110	0.0523284551214	0.05754	0.334021985531	0.15540	T	0.071433	0.34206	T	-0.159189	0.26885	T	-0.466441	0.25900	T	0.34719979763031	0.26908	T	0.0509949	0.01037	T	0.101794064	0.24048	0.07810975	0.17463	0.101794064	0.24048	0.07810975	0.17463	-6.802	0.52574	T	.	.	0.103	0.31507	B	.;.	.;.	1.005206	0.13839	10.39	0.611700509428586	0.06642	0.02579	0.07130	N	AEFI	0.071975	0.14349	N	-0.987630570462956	0.08867	0.4174243	-1.13621174465701	0.07018	0.3398426	3.46970483190476E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.45	-0.419	0.11725	-0.540000	0.06195	-5.534000	0.01684	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2131:0.252:0.0:0.5349	2.360	0.04041	661	0.61838	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	45.33	36	chr1	89133439	.	T	A	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.234;DP=809;ExcessHet=0;FS=7.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-9.927;QD=0.45;ReadPosRankSum=-3.736;SOR=2.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:93,0:93:74:.:.:0,74,2772:.	18	0	1	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	2081.33	33	chr1	89191383	.	T	C	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=808;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.17;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	18	0	1	0
chr1	89198826	89198826	C	G	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon1:c.G9C:p.E3D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00330137405359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.084	0.24799	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.39	0.57419	T	-0.19	0.09965	N	0.078	0.05287	-1.0044	0.28636	T	0.018	0.07376	T	9	0.05954331	0.07173	T	0.003301	0.07329	T	0.025	0.05312	0.112	0.02175	0.355450299083	0.35149	0.1837197839060289	0.18290	0.103197518649	0.11672	0.456330567598	0.32808	T	0.001698	0.01120	T	-0.184464	0.23074	T	-0.502746	0.22063	T	0.0745830017198029	0.09279	T	0.30087	0.05647	T	0.086132124	0.20009	0.075093925	0.16496	0.086132124	0.20009	0.075093925	0.16495	-3.13	0.11644	T	.	.	0.085	0.10062	B	.	.	0.617814	0.09862	6.624	0.97719516962708197	0.35549	0.01399	0.04744	N	AEFDGBHCI	0.032976	0.03827	N	-1.39406115285017	0.02693	0.1192856	-1.48135820799914	0.02497	0.1149507	0.999999997997675	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.573888	0.23631	0	0.618803	0.45993	0	.	.	2.03	-2.93	0.05261	0.574000	0.23416	0.285000	0.16810	-0.282000	0.06404	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.3047:0.4057:0.2896	3.758	0.08118	461	0.78683	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1718.33	33	chr1	89198826	.	C	G	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=755;ExcessHet=0;FS=2.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.1;SOR=0.956	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	18	0	1	0
chr1	89933291	89933291	G	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G223A:p.V75I,LRRC8D:NM_018103:exon3:c.G223A:p.V75I	.	424	1097	1	0	0	1	0.000455581	.	.	.	3288080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.005869410284	7.7e-05	.	0.0002	0	8.672e-05	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200937607	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0018	0	0	0	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	9.147e-05	7.703e-05	0.0001	8.286e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0.0005	0	0.272	0.20532	T	0.474	0.12993	T	0.0	0.02946	B	0.002	0.06944	B	0.831594	0.09102	N	0.920454	1	0.08975	N	0	0.06538	N	1.49	0.44461	T	-0.04	0.12472	N	0.016	0.00717	-0.9715	0.36883	T	0.015	0.05801	T	9	0.01427424	0.00301	T	0.005869	0.15281	T	0.054	0.15330	.	.	0.187035705434	0.18338	0.06505639114673414	0.06444	0.470340502162	0.46312	0.284429430962	0.08118	T	0.012107	0.10698	T	-0.481868	0.00721	T	-0.629622	0.10443	T	0.010870267637074	0.00155	T	0.518948	0.18281	T	0.08038302	0.18417	0.036254894	0.03036	0.08038302	0.18416	0.036254894	0.03036	-3.566	0.17367	T	.	.	0.068	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212456	0.03027	0.463	0.86747476219819053	0.16745	0.14602	0.18489	N	AEFDBHI	0.099741	0.20071	N	-1.01206696687564	0.08353	0.3913383	-0.978333237273347	0.10273	0.5163077	0.999993936372159	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-0.289	0.12214	0.355000	0.19902	0.288000	0.16841	0.676000	0.76740	0.510000	0.27033	0.002000	0.18203	0.236000	0.22896	0.4096:0.1104:0.3544:0.1256	2.257	0.03810	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3320.33	33	chr1	89933291	.	G	A	3320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=845;ExcessHet=0;FS=8.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.237;SOR=0.977	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	18	0	1	0
chr1	89935425	89935425	G	C	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G2357C:p.C786S,LRRC8D:NM_018103:exon3:c.G2357C:p.C786S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0248015727498	0.0015	0.000998403	0.0004	0.0044	0.0004	0	0	0	0	0	0.0003622	56	154602	rs151217773	0.0001	0.0001	0.0001	0.0001	0.0041	9.401e-05	8.883e-05	0.0035	0.0033	0.0041	0.0002	0	0	0	0.0002	8.993e-07	0.0002	0	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0005	0	0	0	0	0	0.0009	0	1.0	0.00964	T	0.923	0.02845	T	0.004	0.12183	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1	0.01172	N	0.67	0.52187	T	2.48	0.00239	N	0.874	0.87157	-0.9712	0.36946	T	0.025	0.10464	T	9	0.021673977	0.00524	T	0.024802	0.47786	T	0.308	0.62947	0.462	0.53079	0.440540251273	0.43675	0.39029140142391944	0.38944	0.814884222991	0.66894	0.724075734615	0.70641	T	0.017011	0.13954	T	-0.101385	0.36194	T	0.0821323	0.75720	D	0.159571748909114	0.17840	T	0.670133	0.27879	T	0.7305344	0.79754	0.4775988	0.69736	0.7305344	0.79755	0.4775988	0.69736	-2.842	0.08576	T	.	.	0.137	0.29914	B	.;.	.;.	2.595267	0.33679	19.41	0.86704296183674978	0.16716	0.99551	0.97351	D	AEFDBI	0.964927	0.98715	D	-0.0367671549572968	0.40197	2.382978	0.278894195831323	0.54308	3.596257	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	10.003000	0.99689	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	20.644	0.99572	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2170.33	33	chr1	89935425	.	G	C	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=801;ExcessHet=0;FS=7.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.999;SOR=1.096	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	18	0	1	0
chr1	90017368	90017368	T	G	exonic	ZNF326	.	nonsynonymous SNV	ZNF326:NM_181781:exon6:c.T360G:p.D120E,ZNF326:NM_001320185:exon8:c.T711G:p.D237E,ZNF326:NM_182976:exon8:c.T978G:p.D326E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00321357897636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02795	T	0.026	0.19406	B	0.027	0.21085	B	0.000244	0.46924	D	0.180429	0.672312	0.31525	N	-0.245	0.03879	N	1.07	0.39586	T	1.53	0.00747	N	0.272	0.34228	-0.9591	0.39349	T	0.010	0.03811	T	10	0.045364827	0.03599	T	0.003214	0.07057	T	0.074	0.21613	0.477	0.55502	0.151262610727	0.14761	0.23807760985959797	0.23721	0.417156267166	0.42343	0.600036740303	0.52910	T	0.024111	0.18278	T	-0.183127	0.23273	T	-0.500826	0.22262	T	0.433837443590164	0.30202	T	0.792821	0.43457	T	0.027692176	0.01998	0.035208154	0.02730	0.027692176	0.01998	0.035208154	0.02729	-2.616	0.06625	T	.	.	0.219	0.44910	B	.;.	.;.	1.835488	0.23322	15.97	0.67310532221741504	0.08317	0.73573	0.35988	D	AEBI	0.118130	0.23113	N	-0.752437775536872	0.14566	0.7267258	-0.544034569177615	0.20964	1.131899	0.102893002400108	0.16430	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	0.171	0.14312	0.260000	0.18192	1.573000	0.27428	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.1756:0.3256:0.0:0.4988	4.962	0.13419	673	0.60677	Zinc finger C2H2 AKAP95-type;Zinc finger C2H2 AKAP95-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	770.33	33	chr1	90017368	.	T	G	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.912;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr1	90940524	90940524	T	C	exonic	ZNF644	.	nonsynonymous SNV	ZNF644:NM_201269:exon3:c.A830G:p.D277G	Myopia 21, autosomal dominant, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	3927808	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0183583682694	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs527881655	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0001	0.0003	0.0003	2.987e-05	0	0	0	0	0.0007	0.0002	0.0002	0.0004	4.597e-05	4.593e-05	7.71e-05	1.343e-05	0.0002	2.108e-05	1.526e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0.0002	0.144	0.25255	T	0.162	0.31225	T	0.007	0.14184	B	0.004	0.10090	B	0.000029	0.55875	D	0.155973	0.998631	0.81001	D	1.355	0.33814	L	6.29	0.00558	T	-1.33	0.33197	N	0.209	0.23884	-0.6675	0.61941	T	0.001	0.00222	T	10	0.052737862	0.05355	T	0.018358	0.40397	T	0.209	0.49871	.	.	0.176862962021	0.17281	0.36427881243997035	0.36341	0.314280072756	0.33708	0.486402064562	0.36940	T	0.020613	0.16197	T	-0.384507	0.02917	T	-0.485547	0.23858	T	0.0750437208045543	0.09341	T	0.89891	0.64583	D	0.1079019	0.25514	0.1388261	0.33143	0.1079019	0.25514	0.1388261	0.33142	-4.011	0.23968	T	.	.	0.093	0.18910	B	.;.	.;.	3.413014	0.47354	22.4	0.96787347404300472	0.31098	0.92514	0.55890	D	AEFBI	0.256979	0.37580	N	-0.194807286067018	0.33350	1.891078	0.0103236796029074	0.40194	2.394863	0.995948480367171	0.34425	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.79	5.79	0.91751	4.723000	0.61658	4.281000	0.42880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.072:0.0:0.928	10.462	0.43770	897	0.25382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	38	chr1	90940524	.	T	C	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.945;DP=805;ExcessHet=0;FS=6.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.077;SOR=0.684	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1323	18	0	1	0
chr1	92180595	92180595	A	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.A1373G:p.H458R,BTBD8:NM_001376131:exon17:c.A2912G:p.H971R	.	430	1071	21	0	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00760635437972	0.0002	0.00159744	0.0027	0	0	0	0	0.0013	0.0042	0.0058	0.0004851	75	154602	rs61741973	0.0007	0.0007	0.0005	0.0009	0.0165	0.0007	0.0007	0.0138	0.0128	6.333e-05	0.0004	0.0022	0	0	0.0165	0.0002	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0003	0.0061	0.0054	7.218e-05	0	6.536e-05	0.0020	0.0002	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.532872	0.11619	N	0.790971	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9069	0.47227	T	0.003	0.00929	T	10	0.0044327974	0.00091	T	0.007606	0.20192	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.10000362729047764	0.09931	.	.	0.238763928413	0.02680	T	0.008553	0.07843	T	-0.776713	0.00012	T	-0.884885	0.00615	T	0.0113037481900436	0.00167	T	0.355164	0.11736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	-1.484470	0.00304	0.005	0.18901051738063332	0.00615	0.02180	0.06383	N	AEFGBI	0.034787	0.04369	N	-1.69319894233088	0.00866	0.03747364	-1.80467435958165	0.00744	0.03317401	0.738082412563993	0.23165	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	-9.21	0.00578	-0.750000	0.04913	-3.608000	0.02661	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2759:0.0:0.5178:0.2063	8.760	0.33829	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008816	0.005319	0.000000	0.013393	0.000000	0.000000	0.000000	0.039474	0.02632	1575.33	46	chr1	92180595	.	A	G	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=1359;ExcessHet=0;FS=2.382;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.329;SOR=0.971	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr1	92480855	92480855	C	G	exonic	GFI1	.	nonsynonymous SNV	GFI1:NM_001127215:exon4:c.G532C:p.G178R,GFI1:NM_001127216:exon4:c.G532C:p.G178R,GFI1:NM_005263:exon4:c.G532C:p.G178R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0947040292213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.295e-06	2.052e-06	1.503e-06	3.117e-06	1.522e-05	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0	9.589e-07	1.871e-05	1.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.54	0.09760	T	0.005	0.12996	B	0.004	0.10090	B	0.067762	0.21718	N	0.341501	1	0.08975	N	1.39	0.34934	L	3.02	0.08986	T	-0.41	0.14000	N	0.169	0.18376	-0.9501	0.40955	T	0.007	0.02518	T	10	0.18142581	0.33373	T	0.094704	0.76300	D	0.025	0.05312	0.319	0.29741	0.558147714631	0.55475	0.25169312803071203	0.25083	0.763659519793	0.64390	0.909863829613	0.97458	D	0.343997	0.71257	T	-0.218637	0.18180	T	-0.551834	0.17151	T	0.167297890085063	0.18395	T	0.634137	0.24845	T	0.063135155	0.13262	0.20006599	0.43920	0.063135155	0.13262	0.20006599	0.43919	-7.345	0.56515	T	0.10293074748451662	0.07879	0.310	0.53793	B	.;.;.	.;.;.	2.728447	0.35709	19.97	0.99783890850011381	0.87043	0.52440	0.29132	D	AEFDBCI	0.101916	0.20458	N	-0.54638294260379	0.20597	1.086983	-0.486752825937037	0.22518	1.223443	0.999989011325327	0.51787	0.455138	0.09556	0	0.546412	0.12157	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.86	2.93	0.33092	1.225000	0.32154	4.308000	0.42960	0.518000	0.23583	0.951000	0.33123	0.978000	0.30204	0.080000	0.17246	0.0:0.8154:0.1846:0.0	11.415	0.49191	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	169.35	27	chr1	92480855	.	C	G	169.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.368;DP=473;ExcessHet=0;FS=5.035;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.312;SOR=2.215	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr1	92481068	92481068	G	C	exonic	GFI1	.	nonsynonymous SNV	GFI1:NM_001127215:exon4:c.C319G:p.P107A,GFI1:NM_001127216:exon4:c.C319G:p.P107A,GFI1:NM_005263:exon4:c.C319G:p.P107A	.	0	1517	5	0	0	5	0.00164528	.	.	.	250023	not_specified|Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided	MedGen:CN169374|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.00638007341911	0.0017	0.00119808	0.0026	0.0007	0.0038	0	0.0009	0.0036	0	0.0009	0.002238	346	154602	rs149914857	0.0039	0.0040	0.0040	0.0039	0.0047	0.0039	0.0038	0.0046	0.0045	0.0008	0.0024	0.0022	0	0.0010	0.0035	0.0047	0.0039	0.0009	0.0026	0.0026	0.0027	0.0025	0.0045	0.0024	0.0023	0.0041	0.0040	0.0011	0.0033	0.0012	0.0012	0	0.0009	0.0034	0.0045	0.0019	0.0002	0.134	0.26300	T	0.068	0.44106	T	0.009	0.15093	B	0.005	0.11217	B	0.002080	0.37317	N	0.267267	0.989966	0.41059	D	2.14	0.59869	M	2.7	0.12162	T	-2.88	0.60507	D	0.242	0.27910	-1.0984	0.04290	T	0.025	0.10910	T	10	0.008533537	0.00193	T	0.00638	0.16783	T	0.107	0.30369	.	.	0.789066735824	0.78710	0.15824017526891318	0.15745	1.42110148924	0.85611	0.436769783497	0.30135	T	0.566782	0.85590	D	-0.58419	0.00182	T	-0.610971	0.11906	T	0.0263316863820734	0.01451	T	0.811219	0.46271	T	0.08659842	0.20133	0.082841314	0.18938	0.108980656	0.25765	0.07057042	0.15008	-3.708	0.19437	T	0.2324507763104613	0.31463	0.076	0.05845	B	.;.;.	.;.;.	3.336901	0.45964	22.2	0.99093200135936799	0.52272	0.97978	0.78588	D	AEFDBCI	0.800907	0.72676	D	0.110239998590133	0.46940	2.926782	0.22428650294991	0.51197	3.304468	0.999999975172228	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.37	4.37	0.51830	7.360000	0.78747	8.274000	0.76893	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	17.463	0.87518	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005556	0.010309	0.008152	0.005848	0.000000	0.000000	0.003067	0.000000	0.02632	870.33	37	chr1	92481068	.	G	C	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.55;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	92837472	92837472	G	A	exonic	RPL5	.	nonsynonymous SNV	RPL5:NM_000969:exon6:c.G544A:p.G182S	Diamond-Blackfan anemia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0152286512874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.047	0.48855	D	0.791	0.44643	P	0.31	0.41396	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	-0.09	0.64086	T	-4.62	0.79143	D	0.752	0.75101	-0.7023	0.60328	T	0.169	0.50842	T	10	0.64603287	0.69331	D	0.015229	0.35841	T	0.426	0.73372	0.278	0.23164	0.795191802402	0.79328	0.7477859275065755	0.74724	0.637711510295	0.57507	0.889997959137	0.95260	D	0.55203	0.84849	D	0.251545	0.78746	D	0.12355	0.78470	D	0.995254993438721	0.87099	D	0.849215	0.53152	T	0.9778958	0.98945	0.95998216	0.98971	0.9778958	0.98945	0.95998216	0.98971	-12.92	0.89031	D	.	.	0.996	0.95886	P	.;.;.	.;.;.	6.153875	0.94681	34	0.99727544669347401	0.82549	0.97603	0.75838	D	AEFBCI	0.959328	0.97959	D	0.584320836166797	0.72196	5.767752	0.661417333061842	0.79462	7.087847	1.0	0.98316	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.4	5.4	0.77957	9.890000	0.98578	11.875000	0.98678	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.546	0.95291	326	0.86709	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1527.33	33	chr1	92837472	.	G	A	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=741;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.297;SOR=1.22	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr1	92961389	92961389	G	A	exonic	DIPK1A	.	nonsynonymous SNV	DIPK1A:NM_001006605:exon1:c.C41T:p.P14L,DIPK1A:NM_001252269:exon1:c.C41T:p.P14L,DIPK1A:NM_001252270:exon1:c.C41T:p.P14L,DIPK1A:NM_001252273:exon1:c.C41T:p.P14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.512751844089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.451e-06	4.104e-06	1.441e-06	1.46e-06	2.513e-05	2.4e-07	9e-08	4.17e-06	1.56e-06	0	0	0	0	0	0	0	0	2.513e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.739	0.18505	T	.	.	.	.	.	.	0.084063	0.20717	U	0.421727	0.999138	0.46149	D	.	.	.	1.01	0.41058	T	-0.32	0.12283	N	0.413	0.50508	-1.0715	0.09086	T	0.021	0.08870	T	10	0.17088467	0.31777	T	0.512752	0.95327	D	0.070	0.20419	0.369	0.37850	0.434606191737	0.43079	0.4976935996060162	0.49690	0.366662604829	0.38238	0.751447021961	0.74660	T	.	.	.	-0.139271	0.30006	T	-0.437829	0.29053	T	0.1630520187483	0.18094	T	0.849215	0.53152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47955	B	.;.;.;.	.;.;.;.	3.051090	0.40936	21.3	0.96424039107578674	0.29768	0.50316	0.28634	D	ALL	0.084992	0.17228	N	-0.524773930952446	0.21281	1.128236	-0.382424257582383	0.25520	1.403989	0.999999895019711	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.23	2.18	0.26813	1.725000	0.37696	7.105000	0.57548	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:0.0:0.7294:0.2705	7.021	0.24091	408	0.82256	.;FAM69, N-terminal|FAM69, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	437.33	47	chr1	92961389	.	G	A	437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=2.19;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1122	18	0	1	0
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D,MTF2:NM_001164392:exon14:c.G1391A:p.G464D,MTF2:NM_007358:exon15:c.G1562A:p.G521D,MTF2:NM_001164391:exon16:c.G1256A:p.G419D	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1641.33	40	chr1	93136807	.	G	A	1641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=873;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.346;SOR=0.917	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1340	18	0	1	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	335.28	35	chr1	93239851	.	T	G	335.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.706;DP=810;ExcessHet=0.4139;FS=553.302;InbreedingCoeff=-0.3127;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.642;SOR=8.813	GT:AD:DP:GQ:PL	./.:25,0:25:0:0,0,472	4	0	3	12
chr1	93589193	93589193	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G440A:p.R147H,BCAR3:NM_001261409:exon5:c.G713A:p.R238H,BCAR3:NM_003567:exon5:c.G713A:p.R238H,BCAR3:NM_001261408:exon7:c.G713A:p.R238H	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0023	0.00299521	0.0021	0.0009	0.0004	0	0.0003	0.0024	0.0023	0.0044	0.0020892	323	154602	rs137969427	0.0032	0.0032	0.0033	0.0032	0.0043	0.0032	0.0031	0.0039	0.0038	0.0007	0.0007	0.0011	5.038e-05	0.0003	0.0016	0.0037	0.0028	0.0043	0.0019	0.0019	0.0019	0.0019	0.0035	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0007	0.0003	0	9.418e-05	0.0034	0.0032	0.0014	0.0035	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-0.06	0.63568	T	-3.33	0.66206	D	0.421	0.47115	-0.3275	0.74206	T	0.368	0.72780	T	10	0.009253174	0.00209	T	.	.	.	0.283	0.60100	.	.	0.63039333651	0.62737	0.5347690251867538	0.53401	0.653951524495	0.58502	0.668007493019	0.62554	T	0.416087	0.76914	T	-0.269542	0.11807	T	-0.159001	0.58442	T	0.0337550608146583	0.02596	T	0.985301	0.94937	D	0.43341994	0.62976	0.27022064	0.52911	0.43341994	0.62976	0.27022064	0.52910	-4.777	0.34322	T	.	.	0.263	0.49778	B	.;.;.;.	.;.;.;.	5.435323	0.90871	32	0.99954797058971256	0.99969	0.96078	0.67433	D	AEFDBHCI	0.731285	0.67841	D	0.707485585597362	0.80125	7.225114	0.677688086251069	0.80690	7.354792	0.999999999999991	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.650271	0.49498	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	5.479000	0.66538	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.566	0.91069	279	0.89001	.;SH2 domain|SH2 domain;SH2 domain|SH2 domain;SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.010204	0.000000	0.002924	0.000000	0.017241	0.003049	0.003788	0.02632	1966.33	34	chr1	93589193	.	C	T	1966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.849;DP=745;ExcessHet=0;FS=8.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.881;SOR=0.561	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	93589233	93589233	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G400A:p.D134N,BCAR3:NM_001261409:exon5:c.G673A:p.D225N,BCAR3:NM_003567:exon5:c.G673A:p.D225N,BCAR3:NM_001261408:exon7:c.G673A:p.D225N	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.163934530145	0.0008	0.00259585	0.0022	0.0003	0.0019	0.0001	0.0002	0.0017	0.0023	0.0079	0.0023674	366	154602	rs61752468	0.0033	0.0033	0.0033	0.0033	0.0079	0.0032	0.0032	0.0074	0.0072	0.0007	0.0029	0.0002	5.038e-05	0.0001	0.0003	0.0034	0.0029	0.0079	0.0020	0.0020	0.0019	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0005	0	0.0037	0	0	9.413e-05	0	0.0026	0.0024	0.0085	0.015	0.65419	D	0.01	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	-0.12	0.64630	T	-3.6	0.69357	D	0.705	0.72209	-0.3462	0.73664	T	0.335	0.70182	T	10	0.015360057	0.00322	T	0.163935	0.84316	D	0.334	0.65620	.	.	0.589048170169	0.58580	0.49233589602185934	0.49154	0.579608724245	0.53821	0.626676380634	0.56673	T	0.63529	0.88748	D	-0.382417	0.03008	T	-0.317527	0.42845	T	0.0380211163019986	0.03336	T	0.90041	0.67324	D	0.68894804	0.77455	0.60521066	0.77052	0.68894804	0.77456	0.60521066	0.77053	-7.895	0.60352	D	.	.	0.263	0.49797	B	.;.;.;.	.;.;.;.	5.012553	0.83247	28.0	0.99915407526168964	0.98379	0.96588	0.69894	D	AEFBCI	0.769774	0.70493	D	0.664037717561759	0.77279	6.644504	0.638860344409482	0.77784	6.746436	0.999999999999665	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.67347	0.61138	0	0.735409	0.98432	0	.	.	4.75	4.75	0.59954	5.621000	0.67420	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.108	0.89455	278	0.89047	.;SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	34	chr1	93589233	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=766;ExcessHet=0;FS=7.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.57;SOR=0.78	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	93877105	93877105	A	G	exonic	DNTTIP2	.	nonsynonymous SNV	DNTTIP2:NM_014597:exon2:c.T830C:p.I277T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00477757307581	.	.	1.664e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs762134971	3.426e-06	3.42e-06	4.092e-06	2.755e-06	7.56e-05	1e-06	7.3e-07	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	8.995e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.676	0.06186	T	0.016	0.17332	B	0.015	0.17295	B	0.780934	0.06654	N	1.117470	1	0.08975	N	0.755	0.19153	N	2.57	0.13552	T	0.19	0.04947	N	0.029	0.00666	-0.9202	0.45527	T	0.004	0.01125	T	10	0.03514713	0.01750	T	0.004778	0.11941	T	0.029	0.06676	0.269	0.21735	0.0846915920261	0.08053	0.054129997959408115	0.05354	0.077331380461	0.08693	0.345233798027	0.17218	T	0.006019	0.05459	T	-0.436374	0.01358	T	-0.638895	0.09749	T	0.0260104600406426	0.01408	T	0.469553	0.13876	T	0.06467497	0.13746	0.07141977	0.15291	0.06467497	0.13746	0.07141977	0.15290	-3.205	0.12542	T	.	.	0.098	0.16275	B	.	.	-0.347832	0.02414	0.271	0.55155276790365304	0.05284	0.16131	0.19245	N	AEBCI	0.059028	0.11117	N	-1.56396333905693	0.01455	0.06347697	-1.53735528506862	0.02064	0.09438551	0.999734206932483	0.42341	0.722319	0.85440	0	0.662677	0.63036	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.13	-1.96	0.07113	-0.103000	0.10909	.	.	-0.067000	0.16409	0.000000	0.06391	0.000000	0.08366	0.424000	0.27317	0.3651:0.0:0.0:0.6349	10.566	0.44360	427	0.81056	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2748.33	117	chr1	93877105	.	A	G	2748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=2432;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.4;SOR=0.858	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	18	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.05263	3652.81	33	chr1	94008251	.	C	T	3652.81	.	AC=2;AF=0.053;AN=38;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.94;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	18	1	0	0
chr1	96804787	96804787	C	T	exonic	PTBP2	.	nonsynonymous SNV	PTBP2:NM_001300985:exon9:c.C907T:p.L303F,PTBP2:NM_001300988:exon9:c.C907T:p.L303F,PTBP2:NM_001300987:exon10:c.C940T:p.L314F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0928554283879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10378	T	0.74	0.05000	T	0.89	0.48942	P	0.943	0.67921	D	0.014495	0.01391	N	2.175560	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.59	0.17624	N	0.698	0.71232	-0.8555	0.51584	T	0.214	0.57507	T	9	0.7151817	0.73300	D	0.092855	0.75968	D	0.164	0.42212	.	.	0.721047339704	0.71859	0.19992743766520593	0.19909	.	.	.	.	.	.	.	.	-0.0948487	0.37274	T	-0.37402	0.36421	T	0.884239971637726	0.53446	D	0.579842	0.20971	T	.	.	.	.	.	.	.	.	-4.527	0.31589	T	.	.	0.093	0.19194	B	.;.	.;.	3.532508	0.49572	22.8	0.96380260623962755	0.29617	0.98260	0.81026	D	AEFDBIJ	0.695885	0.65440	D	0.399699195295901	0.61406	4.341263	0.47040644657224	0.66036	4.90028	0.999999999474518	0.74766	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.52698	0.09003	0	.	.	5.38	5.38	0.77279	4.120000	0.57646	7.727000	0.67598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.128	0.93377	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1303.33	35	chr1	96804787	.	C	T	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.985;DP=756;ExcessHet=0;FS=2.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.972;SOR=0.989	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,31:110:99:0|1:99884396_T_C:729,0,2752:99884396	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,25:109:99:0|1:99884396_T_C:156,0,2909:99884396	11	0	8	0
chr1	100133188	100133188	C	T	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon1:c.C20T:p.S7L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0174999103981	0.0024	0.00199681	0.0024	0.0004	0.0014	0	0.0023	0.0038	0.0033	0.0004	0.0025808	399	154602	rs141081618	0.0033	0.0033	0.0034	0.0033	0.0040	0.0033	0.0032	0.0039	0.0038	0.0007	0.0017	0.0031	0	0.0021	0	0.0040	0.0022	0.0003	0.0024	0.0024	0.0025	0.0023	0.0050	0.0022	0.0021	0.0041	0.0038	0.0006	0	0.0050	0.0017	0.0002	0.0009	0	0.0036	0.0014	0	0.01	0.56456	D	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.947602	0.07634	N	1.022660	1	0.08975	N	1.245	0.31408	L	0.87	0.46777	T	-1.4	0.37566	N	0.241	0.27197	-0.9853	0.33760	T	0.040	0.17063	T	10	0.0051888227	0.00113	T	0.018	0.39223	T	0.095	0.27398	.	.	0.280987212366	0.27714	0.27849445301354714	0.27762	0.152770602881	0.17239	0.314561545849	0.12597	T	0.028777	0.20767	T	-0.447833	0.01163	T	-0.415242	0.31621	T	0.0366320359218139	0.03091	T	0.782822	0.41925	T	0.05831154	0.11715	0.10372823	0.24896	0.05831154	0.11715	0.10372823	0.24896	-4.57	0.31792	T	.	.	0.084	0.10545	B	.;.	.;.	1.504763	0.19339	14.21	0.98235579975083209	0.39431	0.01490	0.04948	N	ALL	0.067326	0.13228	N	-0.988177080746406	0.08856	0.4168329	-0.972377944148886	0.10408	0.5240324	0.999999999999986	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.79	2.87	0.32523	0.109000	0.15252	0.136000	0.15109	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.8196:0.0:0.1804	9.139	0.36056	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2470.33	35	chr1	100133188	.	C	T	2470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=856;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.11;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	18	0	1	0
chr1	100140852	100140852	G	C	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon7:c.G502C:p.A168P	.	446	1075	1	0	0	1	0.0004649	0.9999	0	.	4089664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.484	0.0345114721881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455523226	6.861e-06	6.841e-06	8.193e-06	5.516e-06	4.674e-05	3.47e-06	2.53e-06	1.591e-05	9.35e-06	0	0	0	0	0	0	4.504e-06	1.662e-05	4.674e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.01	0.65728	D	1.0	0.90584	D	0.994	0.82059	D	0.000015	0.62929	D	0.148294	1	0.81001	D	3.175	0.88760	M	0.75	0.50192	T	-3.68	0.70314	D	0.968	0.97856	-0.3613	0.73225	T	0.337	0.70330	T	9	0.91195786	0.90561	D	0.034511	0.55723	D	0.484	0.77335	0.792	0.91365	0.829220577374	0.82760	0.8605580854935014	0.86019	0.813518623306	0.66839	0.719543218613	0.69980	T	0.260596	0.63198	T	0.276975	0.81055	D	0.160079	0.80811	D	0.974900901317596	0.70705	D	0.928707	0.73770	D	0.8821784	0.89846	0.863039	0.92387	0.8821784	0.89848	0.863039	0.92387	-15.587	0.97075	D	.	.	0.997	0.96936	P	.	.	6.461124	0.95248	34	0.99761249109352534	0.85091	0.98542	0.83898	D	AEFBI	0.841239	0.75845	D	0.893143196331097	0.91420	10.87442	0.85533736874032	0.93325	11.96806	0.999999986470699	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.88	5.88	0.94564	5.481000	0.66549	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.230	0.98349	603	0.67726	Methyltransferase TRM13	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	748.33	33	chr1	100140852	.	G	C	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=705;ExcessHet=0;FS=5.06;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.519;SOR=0.287	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr1	100148310	100148310	G	C	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon10:c.G1234C:p.A412P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00528842248857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.246	0.23984	T	0.001	0.07471	B	0.003	0.08700	B	0.422321	0.12854	N	0.762388	1	0.08975	N	-0.085	0.04774	N	0.88	0.46028	T	0.24	0.04533	N	0.08	0.05542	-0.9737	0.36409	T	0.008	0.02638	T	10	0.045522988	0.03634	T	0.005288	0.13525	T	0.044	0.11924	0.515	0.61459	0.146414634003	0.14194	0.28426906089504617	0.28339	0.225039149249	0.25044	0.264206111431	0.05402	T	0.007325	0.06742	T	-0.3487	0.04810	T	-0.73866	0.03947	T	0.0550227239727974	0.06361	T	0.50095	0.15685	T	0.0481619	0.08350	0.05249793	0.08661	0.0481619	0.08349	0.05249793	0.08660	-4.035	0.24326	T	.	.	0.084	0.09627	B	.	.	-1.372289	0.00380	0.007	0.52460883964750504	0.04752	0.01587	0.05162	N	AEFBI	0.034813	0.04376	N	-1.7506546714819	0.00677	0.02922423	-1.7898991033341	0.00792	0.035341	0.999996009241885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.731467	0.93227	0	0.635551	0.53088	0	.	.	5.51	-8.81	0.00702	-3.041000	0.00696	-3.751000	0.02561	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3543:0.2034:0.1107:0.3316	0.664	0.00794	615	0.66512	Methyltransferase TRM13	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1481.33	33	chr1	100148310	.	G	C	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=743;ExcessHet=0;FS=5.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.918;SOR=1.264	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1265	18	0	1	0
chr1	102881759	102881759	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon63:c.A4630G:p.I1544V,COL11A1:NM_001190709:exon64:c.A4861G:p.I1621V,COL11A1:NM_001854:exon65:c.A4978G:p.I1660V,COL11A1:NM_080629:exon65:c.A5014G:p.I1672V	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3883471	Autosomal_dominant_nonsyndromic_hearing_loss	MONDO:MONDO:0019587,MedGen:C5779548,OMIM:PS124900,Orphanet:90635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0135044891398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.096e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.06302	T	0.599	0.08302	T	0.084	0.24799	B	0.054	0.25828	B	0.000686	0.42383	D	0.229019	0.999715	0.49177	D	1.33	0.33268	L	-0.69	0.72678	T	-0.49	0.16393	N	0.22	0.31478	-0.9358	0.43272	T	0.066	0.27191	T	10	0.15531173	0.29276	T	0.013504	0.32951	T	0.121	0.33580	0.612	0.74535	0.456461865991	0.45270	0.278426947402608	0.27755	0.0969139405913	0.10942	0.703980088234	0.67720	T	0.16752	0.51418	T	-0.107752	0.35141	T	-0.392555	0.34253	T	0.156811912244926	0.17633	T	0.889111	0.62070	D	0.048109196	0.08333	0.045482263	0.06130	0.048109196	0.08333	0.045482263	0.06129	-5.356	0.40494	T	0.09421832367199064	0.06282	0.130	0.32226	B	.;.;.;.	.;.;.;.	1.857039	0.23593	16.08	0.86408302633585987	0.16516	0.88994	0.49201	D	AEFBI	0.561912	0.56972	D	-0.76540797496906	0.14218	0.70649	-0.628545186233355	0.18760	1.003653	0.312617100436936	0.19303	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	4.9	-0.92	0.09942	1.230000	0.32214	0.933000	0.22794	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.5068:0.4932	13.829	0.62864	928	0.17405	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	66.35	66	chr1	102881759	.	T	C	66.35	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.976;DP=1125;ExcessHet=0.119;FS=109.747;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.71;SOR=9.095	GT:AD:DP:GQ:PL	0/1:61,25:86:75:75,0,833	17	0	2	0
chr1	102987714	102987714	T	A	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon28:c.A2073T:p.R691S,COL11A1:NM_001190709:exon29:c.A2304T:p.R768S,COL11A1:NM_001854:exon30:c.A2421T:p.R807S,COL11A1:NM_080629:exon30:c.A2457T:p.R819S	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	1	1505	14	2	0	18	0.00594452	.	.	.	1192668	Retinal_dystrophy|Hearing_loss,_autosomal_dominant_37|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.334	0.25784655461	7.7e-05	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs367824632	0.0001	0.0001	9.804e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0001	0	0	0	0.0021	4.677e-05	0.0004	0.0012	9.856e-05	9.843e-05	3.856e-05	0.0002	0.0010	6.007e-05	4.88e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0.0068	4.412e-05	0	0.0010	0.018	0.54683	D	0.048	0.49120	D	0.981	0.62824	D	0.966	0.76457	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.55	0.39271	L	-3.38	0.94161	D	-5.29	0.85247	D	0.729	0.73015	0.284	0.87307	D	0.655	0.87989	D	10	0.47946686	0.60343	T	0.257847	0.89385	D	0.701	0.89238	0.362	0.36711	0.953937375394	0.95344	0.6228879467726383	0.62221	0.132844441926	0.14965	0.650581121445	0.60068	T	0.77664	0.94066	D	-0.0362331	0.46506	T	0.134644	0.79196	D	0.238656729757201	0.22357	T	0.884712	0.62852	D	0.7395772	0.80268	0.5487358	0.73910	0.7395772	0.80269	0.5487358	0.73911	-11.089	0.82507	D	0.4499784665851495	0.53396	0.880	0.81464	P	.;.;.;.	.;.;.;.	3.853628	0.55844	23.7	0.99699287724562247	0.80522	0.76850	0.37725	D	AEFI	0.238912	0.36095	N	0.040174624420964	0.43691	2.657167	-0.00748090400738627	0.39375	2.333729	1.4249757725328E-5	0.02871	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.4	2.07	0.26004	0.127000	0.15617	2.289000	0.31947	0.609000	0.47794	0.988000	0.36536	1.000000	0.68203	0.976000	0.56436	0.0:0.2124:0.0:0.7876	7.835	0.28525	855	0.34697	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1729.33	39	chr1	102987714	.	T	A	1729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.068;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.31;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr1	103526236	103526236	C	T	exonic	RNPC3	.	nonsynonymous SNV	RNPC3:NM_017619:exon1:c.C166T:p.R56W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0687339464261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045400661	7.157e-07	2.736e-06	0	1.451e-06	3.172e-05	0	0	.	.	3.172e-05	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	0	2.694e-05	4.833e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.007	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	2.2	0.18570	T	-4.33	0.89684	D	0.663	0.68255	-0.9069	0.47227	T	0.125	0.42987	T	10	0.8072697	0.80051	D	0.068734	0.70533	D	0.443	0.74588	0.668	0.80602	0.394236971158	0.39037	0.7779341784764074	0.77743	0.445351969728	0.44427	0.783809244633	0.79504	T	0.085637	0.37547	T	0.21471	0.75275	D	0.0706398	0.74953	D	0.999001443386078	0.95858	D	0.957071	0.83996	D	0.64251375	0.74965	0.74040824	0.84655	0.64251375	0.74966	0.74040824	0.84656	-10.651	0.77744	D	0.4020511693843897	0.49370	0.571	0.76344	P	.;.;.;.	.;.;.;.	5.833167	0.93748	33	0.99915049080887552	0.98309	0.86986	0.46394	D	ALL	0.513218	0.54110	D	0.61114783265227	0.73879	6.038725	0.534117604131979	0.70302	5.485029	0.999999999999801	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.95	0.64894	3.170000	0.50516	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	16.140	0.81325	666	0.61362	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM40, RNA recognition motif 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1229.33	33	chr1	103526236	.	C	T	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.384;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.637;SOR=0.762	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1479	18	0	1	0
chr1	103541441	103541441	G	A	exonic	RNPC3	.	nonsynonymous SNV	RNPC3:NM_017619:exon8:c.G859A:p.D287N	.	462	1054	6	0	0	6	0.00283822	.	.	.	2415949	Isolated_growth_hormone_deficiency,_type_5	MONDO:MONDO:0032569,MedGen:C4748435,OMIM:618160	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.017884744922	.	0.000199681	0.0009	0	0	0	0	0.0001	0	0.0018	0.0001035	16	154602	rs574736349	0.0002	0.0002	0.0002	0.0003	0.0090	0.0002	0.0002	0.0070	0.0063	0.0002	0.0002	0	0	0	0.0090	0.0002	0.0004	0.0008	0.0005	0.0005	0.0004	0.0005	0.0026	0.0004	0.0003	0.0020	0.0018	4.813e-05	0	0.0026	0	0	0	0.0068	0.0003	0	0.0008	0.063	0.36709	T	0.135	0.35082	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999988	0.54805	D	.	.	.	2.11	0.20122	T	-1.34	0.42191	N	0.219	0.24510	-0.9874	0.33249	T	0.109	0.39344	T	9	0.027320743	0.00880	T	0.017885	0.39762	T	0.132	0.35948	0.286	0.24440	0.607244974009	0.60409	0.37705582609364807	0.37620	0.139732063238	0.15750	0.556309223175	0.46746	T	0.028495	0.20628	T	-0.49492	0.00611	T	-0.529246	0.19361	T	0.0992655103754175	0.12276	T	0.886311	0.61284	D	0.112720676	0.26627	0.16189568	0.37633	0.112720676	0.26627	0.16189568	0.37633	-4.613	0.34685	T	0.3900012873959192	0.48330	0.226	0.53402	B	.;.;.;.	.;.;.;.	4.529835	0.71095	25.6	0.99929228307759566	0.99279	0.95664	0.65634	D	AEFBI	0.588137	0.58552	D	0.647159993867495	0.76184	6.440033	0.595978971061096	0.74652	6.173436	0.999943137422116	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	4.733000	0.61730	9.840000	0.81918	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.119	0.89496	654	0.62520	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007289	0.006667	0.000000	0.013889	0.000000	0.000000	0.006579	0.000000	0.02632	1361.33	34	chr1	103541441	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=744;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.191;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	18	0	1	0
chr1	103754602	103754602	C	G	exonic	AMY1A;AMY1B;AMY1C	.	nonsynonymous SNV	AMY1B:NM_001008218:exon7:c.C982G:p.L328V,AMY1C:NM_001008219:exon7:c.C982G:p.L328V,AMY1A:NM_001008221:exon7:c.C982G:p.L328V,AMY1C:NM_001346780:exon7:c.C982G:p.L328V,AMY1A:NM_004038:exon7:c.C982G:p.L328V	.	443	1063	16	0	0	16	0.00746965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.039281813151	0.0027	.	0.0049	0.0003	0.0050	0	0.0031	0.0066	0.0078	0.0043	0.003978	615	154602	rs145792361	0.0011	0.0057	0.0011	0.0011	0.0012	0.0010	0.0010	0.0012	0.0012	6.024e-05	0.0005	0.0009	0	0.0005	0.0004	0.0012	0.0007	0.0008	0.0010	0.0039	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0006	0.0009	0	0.0002	0	0.0017	0.0010	0.0011	0.067	0.35918	T	0.242	0.24264	T	.	.	.	.	.	.	0.000150	0.49130	D	0.137929	0.995438	0.42690	D	.	.	.	-4.83	0.98213	D	-2.07	0.47344	N	0.48	0.51494	0.593	0.91806	D	0.839	0.94610	D	8	0.020226866	0.00462	T	0.039282	0.58722	D	0.429	0.73590	.	.	0.231005064126	0.22704	0.27254544875160475	0.27167	1.70893912417	0.90412	0.782489359379	0.79304	T	.	.	.	-0.238403	0.15552	T	-0.155759	0.58731	T	0.0176921575893016	0.00500	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	2.758656	0.36180	20.2	0.97389265314050655	0.33716	0.67488	0.33451	D	AEFI	0.101485	0.20382	N	-0.307651848413631	0.28858	1.595202	-0.391498639649579	0.25250	1.387413	1.91917441314853E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.23	1.27	0.20595	1.161000	0.31384	2.341000	0.32254	0.286000	0.18717	0.984000	0.35821	0.998000	0.33993	0.487000	0.28723	0.0:0.7529:0.0:0.2471	6.921	0.23569	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011194	0.000000	0.017857	0.000000	0.000000	0.035088	0.003817	0.004274	0.02778	1419.72	43	chr1	103754602	.	C	G	1419.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.1;DP=1147;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=44.86;MQRankSum=0.584;QD=2.85;ReadPosRankSum=1.26;SOR=0.641	GT:AD:DP:GQ:PL	0/1:401,98:499:99:1433,0,10532	17	0	1	1
chr1	107057028	107057028	G	A	exonic	PRMT6	.	nonsynonymous SNV	PRMT6:NM_018137:exon1:c.G313A:p.A105T	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.0539093399098	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1253649475	2.738e-06	2.736e-06	2.724e-06	2.752e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.657e-05	0	1.313e-05	1.313e-05	2.568e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.145	0.88303	M	1.37	0.34253	T	-3.91	0.73042	D	0.765	0.76296	-0.4917	0.68948	T	0.245	0.61424	T	10	0.90091413	0.89452	D	0.053909	0.65651	D	0.461	0.75822	0.76	0.88892	0.467669411796	0.46395	0.8841361621498546	0.88381	1.69212223381	0.90150	0.628192186356	0.56888	T	0.454464	0.79400	T	0.198748	0.73775	D	0.0477117	0.73432	D	0.982942223548889	0.74799	D	0.937106	0.76374	D	0.8963119	0.91055	0.8748774	0.93204	0.8963119	0.91056	0.8748774	0.93205	-10.537	0.77060	D	.	.	0.764	0.75648	P	.	.	5.518343	0.91754	32	0.99832027800679202	0.91370	0.80211	0.39909	D	ALL	0.747104	0.68927	D	0.787441017970027	0.85314	8.539081	0.700314022476283	0.82400	7.758152	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.64	5.64	0.86480	7.311000	0.78264	11.632000	0.93711	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.196	0.86775	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3097.33	66	chr1	107057028	.	G	A	3097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1150;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.628;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	108450674	108450674	C	T	exonic	NBPF6	.	nonsynonymous SNV	NBPF6:NM_001143987:exon2:c.C73T:p.R25C,NBPF6:NM_001143988:exon2:c.C73T:p.R25C	.	589	898	35	0	0	35	0.0191152	.	.	.	2424091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	.	.	.	0.0409	0.0233	0.0417	0	.	0.0617	0.1	0	0.0006147	16	26028	rs764129799	0.0109	0.0100	0.0112	0.0106	0.0239	0.0107	0.0107	0.0193	0.0176	0.0016	0.0045	0.0301	5.914e-05	0.0032	0.0239	0.0125	0.0118	0.0074	0.0076	0.0071	0.0082	0.0071	0.0121	0.0072	0.0070	0.0112	0.0109	0.0014	0	0.0085	0.0291	0	0.0032	0.0227	0.0121	0.0135	0.0052	0.116	0.29554	T	0.09	0.40267	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.25	0.63811	M	3.98	0.03354	T	-4.77	0.82511	D	0.168	0.23758	-0.9734	0.36474	T	0.025	0.10777	T	9	0.0038169324	0.00072	T	.	.	.	0.102	0.29158	.	.	.	.	0.03434494618045624	0.03382	.	.	0.608500301838	0.54103	T	0.100761	0.40687	T	-0.181139	0.23566	T	-0.49797	0.22558	T	0.0194565756206966	0.00649	T	0.622938	0.26965	T	0.0987205	0.23288	0.14248778	0.33896	0.0987205	0.23288	0.14248778	0.33895	-9.501	0.70865	D	.	.	0.158	0.34906	B	.;.;.	.;.;.	1.352385	0.17601	13.26	0.93927097785848512	0.23973	0.00517	0.02413	N	AEFI	0.039513	0.05751	N	-0.98526045166862	0.08918	0.4200131	-1.15727432917467	0.06638	0.3202004	2.04898260433321E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-1.82	0.07433	0.783000	0.26463	-6.546000	0.01369	0.302000	0.18967	0.019000	0.19563	0.000000	0.08366	0.070000	0.16646	0.0:0.4187:0.0:0.5813	5.166	0.14412	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026570	0.020833	0.014493	0.051282	0	0.071429	0.032258	0.000000	0.02632	578.33	32	chr1	108450674	.	C	T	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.206;DP=698;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.36;MQRankSum=-1.716;QD=7.71;ReadPosRankSum=-0.908;SOR=1.166	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr1	108752279	108752279	T	A	exonic	STXBP3	.	nonsynonymous SNV	STXBP3:NM_007269:exon2:c.T72A:p.D24E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0438343300406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.09600	T	0.839	0.03621	T	0.067	0.23653	B	0.008	0.13708	B	0.000096	0.51296	D	0.169543	0.998886	0.45620	D	1.39	0.34934	L	-1.33	0.79854	T	0.58	0.02598	N	0.428	0.46742	-0.6066	0.64544	T	0.275	0.64639	T	10	0.24300942	0.41507	T	0.043834	0.61186	D	0.272	0.58758	0.318	0.29581	0.878934931939	0.87775	0.4134715364973864	0.41263	0.00269479814514	0.00229	0.634083628654	0.57724	T	0.054906	0.29856	T	0.0518197	0.58577	T	-0.163341	0.58049	T	0.632445812225342	0.37720	D	0.726327	0.34071	T	0.07469636	0.16780	0.0787243	0.17660	0.07469636	0.16780	0.0787243	0.17659	-2.851	0.08663	T	.	.	0.112	0.21877	B	.	.	2.473662	0.31887	18.88	0.98453039525226149	0.41643	0.94468	0.61262	D	AEFGBI	0.562732	0.57021	D	0.0516589626108055	0.44219	2.69996	0.223153259215818	0.51136	3.298689	0.999920014654424	0.46280	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.762000	0.54962	2.349000	0.32302	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.897	0.70291	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	546.33	34	chr1	108752279	.	T	A	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=677;ExcessHet=0;FS=1.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.04;SOR=0.874	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1009	18	0	1	0
chr1	108759994	108759994	A	G	exonic	STXBP3	.	nonsynonymous SNV	STXBP3:NM_007269:exon6:c.A347G:p.D116G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.126012500825	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385065116	3.535e-06	5.473e-06	4.218e-06	2.844e-06	5.889e-05	1.04e-06	7.5e-07	9.75e-06	3.65e-06	0	5.889e-05	0	0	0	0	2.744e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.049529	0.999995	0.58761	D	2.14	0.59869	M	-1.18	0.78314	T	-5.27	0.84175	D	0.559	0.58373	0.310	0.87722	D	0.606	0.85995	D	10	0.74634826	0.75316	D	0.126013	0.80761	D	0.734	0.90721	0.548	0.66296	0.942405098619	0.94180	0.7910615272468318	0.79058	1.22315291198	0.81134	0.522309184074	0.41951	T	0.709782	0.91713	D	0.171284	0.71240	D	0.00826177	0.70870	D	0.994547490612751	0.85897	D	0.980402	0.93314	D	0.89589804	0.91019	0.8921022	0.94416	0.89589804	0.91020	0.8921022	0.94416	-9.503	0.70878	D	.	.	0.627	0.69987	P	.	.	4.896332	0.80441	27.3	0.998634784915022	0.94184	0.97101	0.72695	D	AEGBI	0.803519	0.72864	D	0.821286019918852	0.87419	9.211115	0.778709821455907	0.88275	9.522028	0.999993591454684	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.55	5.55	0.83298	7.428000	0.79479	11.171000	0.87970	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.352	0.74110	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	40	chr1	108759994	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=749;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.19;SOR=0.78	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1152	18	0	1	0
chr1	108834928	108834928	C	T	splicing	AKNAD1	NM_152763:exon8:c.1664+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.246e-05	0.0001	0	0	0	9.4e-05	0	0	5.17e-05	8	154602	rs759160775	6.814e-05	7.114e-05	7.044e-05	6.58e-05	0.0006	5.681e-05	5.273e-05	0.0002	8.683e-05	0	0	0.0008	2.879e-05	0	0.0006	5.83e-05	8.836e-05	5.365e-05	3.945e-05	3.94e-05	6.427e-05	1.346e-05	5.881e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	0	0	0	0.0006	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999943	0.19238	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.55789	0.00261	T	-0.843512	0.01047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.337777	0.29957	18.29	0.45994511748099232	0.03651	0.04579	0.10227	N	AEFDI	.	.	.	0.061487401847531	0.44674	2.737055	-0.377877298216037	0.25658	1.412379	0.755200814024599	0.23422	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0940458	0.21162	2.1	0.00877	0.13397	0.130000	0.15676	1.118000	0.24218	-0.257000	0.07002	0.181000	0.24076	0.420000	0.24802	0.002000	0.04165	0.0:0.5508:0.2734:0.1758	3.337	0.06690	859	0.33891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1032.33	34	chr1	108834928	.	C	T	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=718;ExcessHet=0;FS=1.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.432;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr1	108914358	108914358	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon11:c.C1213T:p.R405C,GPSM2:NM_001321039:exon11:c.C1213T:p.R405C,GPSM2:NM_013296:exon11:c.C1213T:p.R405C	Chudley-McCullough syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1295078	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.758	0.25982339326	7.7e-05	.	8.264e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs375362439	8.219e-06	1.095e-05	1.091e-05	5.506e-06	4.472e-05	4.38e-06	3.46e-06	7.41e-06	2.77e-06	2.99e-05	4.472e-05	0	0	1.873e-05	0	4.502e-06	1.658e-05	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.42	0.94348	D	-5.01	0.82450	D	0.851	0.84713	0.860	0.95156	D	0.842	0.94729	D	10	0.9114708	0.90512	D	0.259823	0.89461	D	0.758	0.91753	.	.	0.984061175176	0.98388	0.5930549423237403	0.59235	1.00575651831	0.74578	0.545206546783	0.45180	T	0.45983	0.79725	T	0.059114	0.59501	T	0.0229836	0.71823	D	0.996114730834961	0.88696	D	0.937406	0.76468	D	0.6483912	0.75278	0.41234532	0.65440	0.6483912	0.75279	0.41234532	0.65440	-8.314	0.63190	D	0.27575291899165905	0.37020	0.203	0.57769	B	.;.;.	.;.;.	5.450835	0.91052	32	0.99933329384800396	0.99488	0.94119	0.60170	D	AEFBI	0.656762	0.62863	D	0.637087920287779	0.75534	6.323287	0.612028769930558	0.75814	6.377271	0.999089195144207	0.38397	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	4.95	0.64894	2.723000	0.46947	4.768000	0.44756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1341:0.7981:0.0:0.0678	10.306	0.42860	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	37	chr1	108914358	.	C	T	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=800;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.895;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr1	108914398	108914398	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon11:c.C1253T:p.T418I,GPSM2:NM_001321039:exon11:c.C1253T:p.T418I,GPSM2:NM_013296:exon11:c.C1253T:p.T418I	Chudley-McCullough syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.162188824977	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330009114	6.183e-06	6.157e-06	6.839e-06	5.521e-06	6.711e-05	2.91e-06	2.11e-06	1.78e-05	8.93e-06	0	6.711e-05	0	0	0	0	4.518e-06	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.033	0.53072	D	0.899	0.49514	P	0.459	0.46380	P	0.000000	0.84330	D	0.051514	1	0.81001	D	2.32	0.66415	M	-3.38	0.94161	D	-4.51	0.78222	D	0.845	0.91852	0.695	0.93114	D	0.787	0.92772	D	10	0.6987003	0.72306	D	0.162189	0.84182	D	0.712	0.89741	0.291	0.25241	0.990285500119	0.99017	0.463996236321197	0.46318	0.868651874649	0.69322	0.696943700314	0.66703	T	0.437334	0.78339	T	0.276006	0.80970	D	0.241553	0.85220	D	0.961563408374786	0.66118	D	0.965703	0.87317	D	0.44176173	0.63516	0.44609007	0.67735	0.44176173	0.63516	0.44609007	0.67735	-4.526	0.31227	T	0.22955936997142865	0.31054	0.699	0.77941	P	.;.;.	.;.;.	4.684488	0.74992	26.3	0.99882940221615368	0.95892	0.99213	0.92899	D	AEFBI	0.745762	0.68834	D	0.680378300888972	0.78347	6.85317	0.721386786406012	0.84004	8.172445	0.999999999736624	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	6.397000	0.73165	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.583	0.99411	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2008.33	37	chr1	108914398	.	C	T	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.497;DP=870;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.637;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr1	109094535	109094535	G	C	exonic	TMEM167B	.	nonsynonymous SNV	TMEM167B:NM_001322248:exon3:c.G322C:p.G108R	.	432	1088	0	2	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0007	9.612e-05	0	0	0.0008	0.0011	0	0.0003	0.0006468	100	154602	rs192334124	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0006	0.0006	3.005e-05	8.947e-05	0	0	0.0005	0.0004	0.0007	0.0007	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0.0007	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	537.33	33	chr1	109094535	.	G	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.325;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.531;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1455	18	0	1	0
chr1	109112634	109112634	C	T	exonic	C1orf194	.	nonsynonymous SNV	C1orf194:NM_001245025:exon1:c.G46A:p.D16N,C1orf194:NM_001366201:exon1:c.G46A:p.D16N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00544090975288	.	.	6.243e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs762170736	7.866e-06	7.524e-06	7.056e-06	8.699e-06	1.262e-05	4.22e-06	3.09e-06	4.69e-06	3.42e-06	0	0	0	0	0	0	9.268e-06	0	1.262e-05	6.571e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.093	0.39799	T	0.007	0.14184	B	0.001	0.04355	B	0.181300	0.17095	N	0.518914	0.548542	0.32113	D	.	.	.	.	.	.	-2.76	0.58569	D	0.145	0.24135	-0.9979	0.30507	T	0.023	0.09696	T	8	0.054433912	0.05794	T	0.005441	0.13984	T	0.048	0.13305	0.205	0.12076	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.049106	0.28211	T	-0.31935	0.06951	T	-0.676229	0.07216	T	0.522723734378815	0.33466	D	0.79722	0.44094	T	0.15474214	0.35007	0.18557727	0.41678	0.15474214	0.35007	0.18557727	0.41677	-3.344	0.14311	T	.	.	0.121	0.25265	B	.;.	.;.	2.171431	0.27671	17.54	0.99673860733745778	0.78782	0.04513	0.10139	N	AEFBHCIJ	0.110552	0.21919	N	-0.739564406998468	0.14918	0.7472992	-0.734806302891101	0.16096	0.8498739	0.999950757308898	0.48110	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.65	1.63	0.22882	0.274000	0.18443	1.532000	0.27166	0.456000	0.21511	0.141000	0.23520	0.735000	0.26442	0.991000	0.66497	0.179:0.6263:0.0:0.1947	4.269	0.10227	699	0.57969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	33	chr1	109112634	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.306;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	18	0	1	0
chr1	109250113	109250113	-	CGT	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.34_35insCGT:p.T12_P13insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1e-05	1.231e-05	0	2.214e-05	0.0004	6.6e-06	5.24e-06	9.607e-05	7.608e-05	0	0	0	0	0	0.0004	0	0	0.0002	6.632e-06	6.573e-06	0	1.359e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	24347.9	48	chr1	109250113	.	A	ACGT	24347.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=967;ExcessHet=5.6906;FS=0.604;InbreedingCoeff=-0.2862;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.18;ReadPosRankSum=-0.219;SOR=0.723	GT:AD:DP:GQ:PL	0/0:0,0:32:96:1414,1414,1414	18	0	1	0
chr1	109271269	109271269	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon26:c.G7649A:p.R2550Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	695965	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00413969554644	0.0029	0.00159744	0.0020	0.0007	0.0006	0	0.0015	0.0033	0	0.0002	0.0022703	351	154602	rs628525	0.0032	0.0032	0.0033	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0004	0.0009	3.826e-05	2.519e-05	0.0013	0.0005	0.0039	0.0026	0.0005	0.0027	0.0027	0.0028	0.0026	0.0048	0.0025	0.0024	0.0043	0.0042	0.0008	0	0.0020	0	0	0.0017	0	0.0048	0.0028	0.0004	0.565	0.06282	T	1.0	0.01155	T	0.016	0.17332	B	0.008	0.13708	B	.	.	.	.	0.702322	0.30091	N	-0.205	0.04094	N	0.9	0.45248	T	0.89	0.01641	N	0.24	0.27077	-0.9793	0.35162	T	0.013	0.04938	T	9	0.0056482255	0.00125	T	0.00414	0.09931	T	0.077	0.22490	.	.	0.378526890672	0.37469	0.22689832539538773	0.22604	0.443152636889	0.44256	0.379314303398	0.22160	T	0.046024	0.27299	T	-0.51609	0.00464	T	-0.502428	0.22096	T	0.00619624598799086	0.00068	T	0.847215	0.52823	T	0.08449194	0.19557	0.07245691	0.15633	0.08449194	0.19557	0.07245691	0.15633	-2.456	0.05487	T	0.12965209965793273	0.13563	0.068	0.02797	B	.	.	3.567167	0.50221	22.9	0.97123592320424901	0.32464	0.77795	0.38293	D	AEFDBI	0.162513	0.28870	N	-0.458891198264499	0.23439	1.258747	-0.197342427575745	0.31633	1.792122	0.996832750918971	0.35047	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.69	4.69	0.58546	2.225000	0.42597	9.938000	0.82634	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1602:0.1609:0.6789:0.0	6.227	0.19925	700	0.57880	GPCR, family 2-like	.	.	.	.	rs628525	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1979.33	35	chr1	109271269	.	G	A	1979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=810;ExcessHet=0;FS=2.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.01;SOR=0.505	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1468	18	0	1	0
chr1	109281797	109281797	C	T	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.G341A:p.R114Q,PSRC1:NM_001005290:exon4:c.G341A:p.R114Q,PSRC1:NM_001032291:exon4:c.G341A:p.R114Q,PSRC1:NM_001350238:exon4:c.G341A:p.R114Q,PSRC1:NM_001350239:exon4:c.G341A:p.R114Q,PSRC1:NM_001350240:exon4:c.G341A:p.R114Q,PSRC1:NM_001350241:exon4:c.G341A:p.R114Q,PSRC1:NM_001350242:exon4:c.G341A:p.R114Q,PSRC1:NM_001363309:exon4:c.G341A:p.R114Q,PSRC1:NM_032636:exon4:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0330745783129	.	.	4.147e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs763036707	6.157e-06	6.84e-06	6.806e-06	5.5e-06	6.708e-05	2.9e-06	2.1e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	2.519e-05	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.578016	0.32350	D	2.585	0.75554	M	0.11	0.61326	T	-3.59	0.69714	D	0.835	0.93370	-0.4375	0.70813	T	0.300	0.67139	T	10	0.44302624	0.58222	T	0.033075	0.54726	D	0.212	0.50341	0.173	0.07894	0.796404153784	0.79450	0.4314419515230392	0.43061	0.775738584094	0.65018	0.607339501381	0.53940	T	0.350655	0.74575	T	0.143851	0.68690	D	0.238155	0.85059	D	0.961098074913025	0.65986	D	0.916008	0.70013	D	0.788236	0.83163	0.6588137	0.80015	0.788236	0.83164	0.6588137	0.80016	-6.175	0.47720	T	.	.	0.790	0.82066	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.352097	0.89774	31	0.99949446137861242	0.99931	0.93482	0.58337	D	AEFDBHI	0.790261	0.71920	D	0.762672395295818	0.83726	8.093885	0.75512370060861	0.86539	8.921817	0.999999944938351	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	5.74	5.74	0.90070	4.997000	0.63662	7.640000	0.63152	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.418	0.74711	650	0.62973	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	34	chr1	109281797	.	C	T	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.321;DP=789;ExcessHet=0;FS=102.953;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.922;SOR=6.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr1	109281881	109281881	G	A	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.C257T:p.A86V,PSRC1:NM_001005290:exon4:c.C257T:p.A86V,PSRC1:NM_001032291:exon4:c.C257T:p.A86V,PSRC1:NM_001350238:exon4:c.C257T:p.A86V,PSRC1:NM_001350239:exon4:c.C257T:p.A86V,PSRC1:NM_001350240:exon4:c.C257T:p.A86V,PSRC1:NM_001350241:exon4:c.C257T:p.A86V,PSRC1:NM_001350242:exon4:c.C257T:p.A86V,PSRC1:NM_001363309:exon4:c.C257T:p.A86V,PSRC1:NM_032636:exon4:c.C257T:p.A86V	.	434	1063	23	2	0	27	0.0125406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0018	0.00159744	0.0033	0.0007	0.0009	0	0.0023	0.0029	0.0023	0.0104	0.0030271	468	154602	rs116496512	0.0032	0.0032	0.0029	0.0034	0.0132	0.0031	0.0031	0.0108	0.0099	0.0007	0.0014	0.0035	0	0.0022	0.0132	0.0030	0.0029	0.0096	0.0022	0.0022	0.0021	0.0023	0.0064	0.0020	0.0019	0.0046	0.0040	0.0004	0.0011	0.0014	0.0043	0	0.0024	0.0171	0.0031	0.0028	0.0064	0.006	0.63226	D	0.0	0.92824	D	0.01	0.15535	B	0.027	0.21085	B	0.027528	0.25742	N	0.397080	1	0.08975	N	2.075	0.57047	M	0.18	0.60361	T	-2.26	0.50502	N	0.229	0.28498	-1.0019	0.29372	T	0.080	0.31586	T	10	0.0059845746	0.00134	T	.	.	.	0.133	0.36157	.	.	0.650309897564	0.64740	0.2293252498829944	0.22847	0.20603035663	0.23027	0.357421278954	0.19009	T	0.066274	0.39161	T	-0.361159	0.04065	T	-0.283595	0.46435	T	0.0356868979356617	0.02925	T	0.675332	0.28377	T	0.15835074	0.35630	0.1507517	0.35539	0.15835074	0.35630	0.1507517	0.35539	-7.069	0.54537	T	.	.	0.139	0.30370	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.896661	0.38380	20.7	0.99884311473574006	0.95970	0.20971	0.21235	N	AEFDBHI	0.297057	0.40674	N	-0.540945000539414	0.20769	1.097295	-0.513461371108263	0.21788	1.180281	0.999999834253446	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	6.03	5.12	0.69459	2.337000	0.43605	6.645000	0.56196	0.676000	0.76740	0.060000	0.21767	0.998000	0.33993	0.447000	0.27828	0.0826:0.0:0.9174:0.0	11.417	0.49198	650	0.62973	.;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	2656.83	34	chr1	109281881	.	G	A	2656.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.869;DP=801;ExcessHet=0.119;FS=4.246;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.498;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	17	0	2	0
chr1	109367478	109367478	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon3:c.A370G:p.I124V	.	428	1080	12	2	0	16	0.00735294	.	.	.	2809059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	.	0.0043	0.00219649	0.0031	0.0009	0.0027	0	0	0.0043	0.0077	0.0025	0.0030142	466	154602	rs61797119	0.0038	0.0040	0.0038	0.0039	0.0252	0.0038	0.0037	0.0218	0.0206	0.0010	0.0032	0.0167	0	0.0006	0.0252	0.0039	0.0049	0.0021	0.0033	0.0034	0.0035	0.0031	0.0065	0.0031	0.0030	0.0055	0.0051	0.0011	0	0.0065	0.0184	0	0.0007	0.0306	0.0039	0.0052	0.0010	0.156	0.24090	T	0.16	0.31427	T	0.242	0.30930	B	0.071	0.27960	B	0.000073	0.52346	D	0.128203	0.994734	0.81001	D	1.32	0.33002	L	1.14	0.38397	T	-0.65	0.18877	N	0.144	0.14480	-1.0891	0.05684	T	0.030	0.12717	T	10	0.010013223	0.00224	T	.	.	.	0.020	0.03691	.	.	0.441323511866	0.43749	0.4379122996076935	0.43708	1.75258816871	0.91011	0.548451066017	0.45639	T	0.180169	0.53142	T	-0.494548	0.00613	T	-0.483168	0.24111	T	0.00511788713177906	0.00055	T	0.808919	0.45897	T	0.09460486	0.22247	0.056598093	0.10141	0.09460486	0.22246	0.056598093	0.10140	-5.427	0.41178	T	.	.	0.142	0.31304	B	.	.	2.412754	0.31014	18.61	0.99502179040847538	0.68089	0.75384	0.36907	D	AEFBI	0.200022	0.32678	N	-0.152309713924512	0.35136	2.014404	-0.0114272979051385	0.39198	2.320491	0.999592207771268	0.40745	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.41	4.29	0.50359	2.432000	0.44442	6.202000	0.54905	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0919:0.0:0.9081	8.027	0.29605	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.040404	0.019022	0.055556	0.000000	0.017241	0.000000	0.003788	0.02632	1326.33	44	chr1	109367478	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.541;SOR=0.722	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	109477999	109477999	A	G	exonic	SYPL2	.	nonsynonymous SNV	SYPL2:NM_001040709:exon5:c.A638G:p.N213S	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	.	0.0041	0.00159744	0.0059	0.0008	0.0008	0	0.0159	0.0083	0.0071	0.0023	0.005498	850	154602	rs62641754	0.0053	0.0053	0.0054	0.0052	0.0058	0.0052	0.0052	0.0057	0.0056	0.0007	0.0011	0.0002	2.519e-05	0.0139	0.0012	0.0058	0.0050	0.0023	0.0050	0.0050	0.0046	0.0053	0.0066	0.0047	0.0046	0.0061	0.0059	0.0012	0.0493	0.0024	0	0.0002	0.0158	0	0.0066	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999414	0.81001	D	2.955	0.85029	M	1.71	0.26737	T	-4.51	0.78222	D	0.91	0.91162	-0.9908	0.32398	T	0.103	0.37894	T	10	0.013972938	0.00295	T	.	.	.	0.410	0.72176	.	.	0.223847106136	0.22009	0.7252880645645586	0.72472	0.631928963362	0.57141	0.692426621914	0.66054	T	0.477208	0.80754	T	-0.407462	0.02067	T	-0.347679	0.39470	T	0.020658057054465	0.00766	T	0.923508	0.72088	D	0.5628381	0.70666	0.6351804	0.78703	0.5628381	0.70667	0.6351804	0.78704	-8.906	0.67090	D	.	.	0.284	0.51686	B	.	.	4.651097	0.74149	26.1	0.99870868755598652	0.94815	0.91216	0.53088	D	AEFDGBHCI	0.816927	0.73854	D	0.727220554962597	0.81416	7.517218	0.735654743539371	0.85082	8.475595	0.999999999974968	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	7.413000	0.79318	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75963	576	0.70006	Marvel domain|Marvel domain	.	.	.	.	rs62641754	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	583.33	33	chr1	109477999	.	A	G	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=701;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.097;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr1	109507558	109507558	C	T	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.G1355A:p.G452D	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0117909354897	0.0061	0.00139776	0.0043	0.0013	0.0012	0	0.0035	0.0067	0.0011	0.0014	0.0041138	636	154602	rs150743133	0.0058	0.0058	0.0060	0.0055	0.0067	0.0056	0.0056	0.0065	0.0065	0.0011	0.0011	0.0138	0	0.0025	0.0005	0.0067	0.0053	0.0012	0.0043	0.0043	0.0046	0.0040	0.0074	0.0040	0.0039	0.0069	0.0067	0.0012	0	0.0022	0.0124	0	0.0012	0	0.0074	0.0038	0.0010	0.01	0.56456	D	0.027	0.55341	D	0.041	0.21357	B	0.039	0.23607	B	0.000014	0.62929	D	0.000000	1	0.81001	D	1.965	0.53209	M	0.67	0.52187	T	-2.41	0.52938	N	0.168	0.17828	-1.0299	0.20487	T	0.082	0.32324	T	10	0.0061337054	0.00138	T	0.011791	0.29763	T	0.117	0.32689	.	.	0.393344232652	0.38951	0.3814148129454224	0.38056	1.36435413803	0.84409	0.753759682178	0.75001	T	0.037111	0.24353	T	-0.402595	0.02227	T	-0.343114	0.39993	T	0.0333741735370918	0.02533	T	0.680532	0.28920	T	0.29802302	0.52727	0.4080348	0.65132	0.29802302	0.52727	0.4080348	0.65132	-4.496	0.30836	T	.	.	0.736	0.75962	P	.;.	.;.	2.705375	0.35350	19.87	0.97847218796178614	0.36372	0.82648	0.41847	D	AEFBCI	0.376649	0.46071	N	0.0277205920441553	0.43118	2.611094	0.186926253722748	0.49131	3.119978	0.990730619439424	0.32251	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	6.17	5.27	0.73797	0.869000	0.27648	4.889000	0.45745	0.599000	0.40250	0.510000	0.27033	1.000000	0.68203	0.999000	0.91618	0.0:0.9292:0.0:0.0708	14.528	0.67489	619	0.66147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.010101	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	3058.33	38	chr1	109507558	.	C	T	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=846;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-2.102;SOR=0.834	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	7	0	10	2
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	70.16	37	chr1	109508617	.	T	C	70.16	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.504;DP=1221;ExcessHet=0.3672;FS=66.503;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.16;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	15	0	3	1
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	424.07	37	chr1	109508618	.	T	C	424.07	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.132;DP=1219;ExcessHet=0.3672;FS=176.537;InbreedingCoeff=-0.0834;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.2;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	16	0	3	0
chr1	109508621	109508621	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C292G:p.L98V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00640700037222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.262	0.22895	T	0.957	0.54824	D	0.593	0.50536	P	0.000131	0.49741	D	0.000000	0.999211	0.46353	D	2.295	0.65404	M	3.83	0.03702	T	-0.91	0.24460	N	0.349	0.52386	-0.9797	0.35071	T	0.010	0.03582	T	10	0.17797929	0.32860	T	0.006407	0.16870	T	0.170	0.43303	0.564	0.68499	0.504579179298	0.50095	0.6842273842363464	0.68361	2.0194489517	0.93986	0.594215393066	0.52088	T	0.041072	0.25738	T	-0.127364	0.31924	T	-0.420726	0.30991	T	0.81734436750412	0.47576	D	0.879712	0.59601	D	0.10350861	0.24465	0.09542348	0.22631	0.10350861	0.24465	0.09542348	0.22630	-6.704	0.51840	T	.	.	0.404	0.60008	A	.;.	.;.	3.916451	0.57146	23.8	0.9898085387003358	0.49740	0.64025	0.32274	D	AEFBCI	0.409761	0.48091	N	0.160561715523568	0.49314	3.13312	0.0874104726328897	0.43911	2.68339	0.944757594152216	0.27630	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.98	0.33575	0.427000	0.21098	7.419000	0.58701	0.676000	0.76740	0.099000	0.22773	1.000000	0.68203	1.000000	0.97212	0.19:0.0:0.6423:0.1677	5.344	0.15305	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	69.7	37	chr1	109508621	.	G	C	69.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.753;DP=1217;ExcessHet=0;FS=67.06;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=0.93;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05263	4667.83	38	chr1	109608722	.	C	T	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=1007;ExcessHet=0.119;FS=0.369;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.473;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	17	0	2	0
chr1	109627849	109627849	G	T	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon8:c.G963T:p.K321N,AMPD2:NM_001257361:exon9:c.G834T:p.K278N,AMPD2:NM_004037:exon9:c.G1026T:p.K342N,AMPD2:NM_139156:exon9:c.G945T:p.K315N,AMPD2:NM_001368809:exon10:c.G1026T:p.K342N	Pontocerebellar hypoplasia, type 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0731118022988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.34800	T	0.309	0.25362	T	0.641	0.90584	P	0.115	0.83170	B	0.000000	0.84330	N	0.047275	0.995506	0.42722	D	2.565	0.75005	M	-2.82	0.91192	D	-1.63	0.45404	N	0.714	0.74918	-0.0388	0.81443	T	0.599	0.85696	D	10	0.5694334	0.65235	D	0.073112	0.71706	D	0.271	0.58633	0.378	0.39319	0.834945890135	0.83337	0.953894012004431	0.95373	1.81151216937	0.91805	0.880734622478	0.94059	D	0.416881	0.76970	T	0.0315424	0.55928	T	-0.192468	0.55359	T	0.84255681478561	0.49537	D	0.935206	0.75689	D	0.18367572	0.39646	0.14593779	0.34593	0.18367572	0.39646	0.14593779	0.34592	-9.592	0.74091	D	.	.	0.818	0.78867	P	.;.;.;.;.;.	.;.;.;.;.;.	3.596330	0.50772	23.0	0.99771790487686962	0.86003	0.97223	0.73418	D	AEFBI	0.634860	0.61458	D	-0.117967397880545	0.36610	2.118501	-0.0657441383265564	0.36815	2.147465	0.788411208204607	0.23971	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	1.28	0.20656	2.065000	0.41068	1.273000	0.25303	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2942:0.0:0.5674:0.1384	5.095	0.14065	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.53	43	chr1	109627849	.	G	T	39.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.909;DP=1393;ExcessHet=0;FS=99.392;InbreedingCoeff=-0.0383;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=1.76;SOR=8.318	GT:AD:DP:GQ:PL	0/0:71,0:71:8:0,8,1581	18	0	1	0
chr1	109712326	109712326	-	G	exonic	GSTM5	.	frameshift insertion	GSTM5:NM_000851:exon1:c.15dupG:p.Y7Vfs*34	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	8.993e-05	0.0011	0.0008	0.0001423	22	154602	rs762227004	0.0001	0.0001	7.489e-05	0.0001	0.0038	8.714e-05	8.202e-05	0.0026	0.0022	2.988e-05	0.0001	0	0	0	0.0038	3.598e-05	0.0001	0.0008	8.556e-05	8.537e-05	9.011e-05	8.079e-05	0.0010	4.965e-05	3.968e-05	0.0004	0.0003	0	0	6.539e-05	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2746.29	33	chr1	109712326	.	T	TG	2746.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.518;DP=854;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.122;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M,EPS8L3:NM_024526:exon9:c.C724A:p.L242M,EPS8L3:NM_133181:exon9:c.C724A:p.L242M,EPS8L3:NM_139053:exon9:c.C727A:p.L243M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.33	43	chr1	109758052	.	G	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.395;DP=742;ExcessHet=0;FS=22.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=-0.435;SOR=4.803	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	110037895	110037895	A	G	exonic	STRIP1	.	nonsynonymous SNV	STRIP1:NM_033088:exon2:c.A185G:p.Y62C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0145341745075	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs769394836	7.55e-06	8.893e-06	8.198e-06	6.895e-06	0.0002	4.05e-06	2.96e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	5.416e-06	3.322e-05	2.321e-05	6.583e-06	6.568e-06	1.287e-05	0	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	0.156	0.24090	T	0.178	0.29639	T	0.895	0.49247	P	0.428	0.45338	B	0.000056	0.53742	D	0.133192	0.986576	0.81001	D	1.59	0.40313	L	0.97	0.42502	T	-1.03	0.27052	N	0.196	0.21580	-1.1023	0.03824	T	0.040	0.17277	T	10	0.21280825	0.37752	T	0.014534	0.34707	T	0.119	0.33137	0.372	0.38340	0.260249123532	0.25628	0.23235418891319906	0.23150	0.729512649434	0.62671	0.891305983067	0.95421	D	0.04525	0.27065	T	-0.168383	0.25480	T	-0.382793	0.35396	T	0.695480763912201	0.40504	D	0.974353	0.90870	D	0.1384747	0.32023	0.057395145	0.10427	0.1384747	0.32023	0.057395145	0.10426	-4.72	0.33645	T	.	.	0.065	0.01934	B	.	.	2.051733	0.26084	16.99	0.99488224224290223	0.67291	0.92240	0.55259	D	AEFBI	0.398769	0.47431	N	0.0705000814936739	0.45090	2.771468	0.143581636667422	0.46803	2.920376	0.999855453661968	0.44174	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	0.627000	0.24200	2.207000	0.31336	0.756000	0.94297	0.938000	0.32564	1.000000	0.68203	0.842000	0.39752	0.8628:0.0:0.0:0.1372	11.209	0.48015	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	42	chr1	110037895	.	A	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=742;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.457;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:112,16:128:15:0|1:110222977_C_G:0,15,4212:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:112,16:128:15:0|1:110222977_C_G:0,15,4212:110222977	8	0	11	0
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	940.8	41	chr1	110222982	.	C	G	940.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	16	0	3	0
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F,KCNC4:NM_001377330:exon2:c.C697T:p.L233F,KCNC4:NM_004978:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	940.8	41	chr1	110222982	.	C	T	940.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	17	0	2	0
chr1	110389302	110389302	C	G	exonic	SLC16A4	.	nonsynonymous SNV	SLC16A4:NM_001201546:exon2:c.G22C:p.V8L,SLC16A4:NM_001201549:exon2:c.G22C:p.V8L,SLC16A4:NM_004696:exon2:c.G22C:p.V8L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00212879737562	0.0002	0.000199681	8.239e-06	9.623e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs145802391	1.312e-05	0.0002	1.375e-05	1.248e-05	0.0002	8.39e-06	6.76e-06	7.874e-05	5.345e-05	0.0002	0	0	0	0	0	1.182e-05	0	0	7.223e-05	7.219e-05	7.71e-05	6.714e-05	0.0003	3.969e-05	3.126e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.298	0.14595	T	0.931	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	0.019103	0.01503	N	2.300800	1	0.08975	N	0	0.06538	N	2.6	0.14907	T	-0.47	0.16393	N	0.05	0.04547	-0.9771	0.35660	T	0.006	0.02168	T	10	0.02878058	0.01008	T	0.002129	0.03962	T	0.005	0.00259	.	.	0.301789629655	0.29801	0.31041469184294535	0.30954	0.0900300259847	0.10153	0.257182478905	0.04561	T	0.001742	0.01167	T	-0.540625	0.00332	T	-0.832819	0.01213	T	0.0624817921216558	0.07554	T	0.390761	0.09705	T	0.04574854	0.07541	0.026506951	0.00743	0.04574854	0.07541	0.026506951	0.00743	-4.14	0.26228	T	.	.	0.091	0.26200	B	.;.;.	.;.;.	0.054984	0.04675	1.322	0.31699489746804305	0.01800	0.06736	0.12758	N	AEFBI	0.148459	0.27235	N	-1.43033376415165	0.02376	0.1048416	-1.47232502665425	0.02574	0.1186023	0.999938366168924	0.46732	0.615465	0.37627	0	0.601575	0.49859	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	4.86	-4.46	0.03288	-1.177000	0.03206	-1.175000	0.06113	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1243:0.1831:0.235:0.4576	1.895	0.03058	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr1	110389302	.	C	G	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.735;DP=833;ExcessHet=0;FS=152.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.19;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1480:.	18	0	1	0
chr1	110389303	110389303	C	G	exonic	SLC16A4	.	nonsynonymous SNV	SLC16A4:NM_001201546:exon2:c.G21C:p.K7N,SLC16A4:NM_001201549:exon2:c.G21C:p.K7N,SLC16A4:NM_004696:exon2:c.G21C:p.K7N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00734110632761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0001	4.101e-06	1.38e-06	3.613e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.613e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.57480	T	0.037	0.65728	D	0.99	0.63424	D	0.807	0.58472	P	0.000965	0.40836	D	0.239424	1	0.18612	N	2.24	0.63355	M	2.46	0.16794	T	-1.47	0.35991	N	0.085	0.10198	-1.0735	0.08660	T	0.036	0.15683	T	10	0.14996457	0.28372	T	0.007341	0.19469	T	0.039	0.10176	0.325	0.30711	0.39694197178	0.39312	0.4134125413857456	0.41257	0.299305296007	0.32296	0.354113519192	0.18526	T	0.005628	0.05080	T	-0.314312	0.07374	T	-0.689264	0.06431	T	0.654102385044098	0.38639	D	0.539346	0.18229	T	0.06677205	0.14398	0.04971416	0.07653	0.06677205	0.14398	0.04971416	0.07652	-5.427	0.41178	T	.	.	0.158	0.38318	B	.;.;.	.;.;.	2.038442	0.25908	16.93	0.99010636366575266	0.50356	0.16231	0.19292	N	AEFBI	0.189295	0.31655	N	-0.581731543493659	0.19499	1.021038	-0.747977652592744	0.15772	0.8311527	0.999418438922167	0.39577	0.615465	0.37627	0	0.601575	0.49859	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	4.86	0.861	0.18186	-0.289000	0.08401	-0.047000	0.12595	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0:0.5388:0.0:0.4612	7.529	0.26841	881	0.29269	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr1	110389303	.	C	G	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.281;DP=834;ExcessHet=0;FS=152.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.978;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1480:.	18	0	1	0
chr1	110952465	110952465	A	G	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.T419C:p.V140A	.	430	1088	4	0	0	4	0.00183486	.	.	.	2446481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00886887868906	0.0003	.	0.0002	0	8.642e-05	0	0	0.0003	0.0022	0.0004	0.0002005	31	154602	rs201655335	0.0003	0.0003	0.0003	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	8.976e-05	0.0003	0.0002	0	0	0.0040	0.0003	0.0006	0.0003	0.0002	0.0002	0.0003	0.0001	0.0006	0.0002	0.0001	0.0002	0.0002	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0006	0.061	0.37118	T	0.065	0.44702	T	0.72	0.42342	P	0.199	0.36804	B	0.168718	0.17439	N	0.576857	1	0.81001	D	2.075	0.57047	M	1.7	0.26885	T	-1.92	0.44657	N	0.316	0.35620	-1.0714	0.09108	T	0.018	0.07470	T	10	0.12570333	0.23891	T	0.008869	0.23390	T	0.071	0.20720	.	.	0.544128928594	0.54067	0.2851283183614188	0.28425	0.310774122975	0.33387	0.361511290073	0.19606	T	0.106701	0.41826	T	-0.308024	0.07923	T	-0.374255	0.36393	T	0.0626669222613495	0.07582	T	0.651635	0.26249	T	0.07202821	0.15990	0.097700395	0.23264	0.07202821	0.15990	0.097700395	0.23264	-3.883	0.22047	T	0.27236191356485245	0.36620	0.189	0.40666	B	.	.	3.194201	0.43412	21.7	0.9802900168334836	0.37697	0.92382	0.55582	D	AEFBI	0.398094	0.47391	N	0.103321837947183	0.46616	2.899365	0.233417617093266	0.51710	3.351324	0.995260246022875	0.34034	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	4.46	0.53567	3.374000	0.52132	4.602000	0.44001	0.691000	0.84096	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.815:0.185:0.0:0.0	9.085	0.35741	629	0.65079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	1490.33	39	chr1	110952465	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=797;ExcessHet=0;FS=4.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.358;SOR=1.185	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1306	18	0	1	0
chr1	111235694	111235694	T	C	exonic	CHI3L2	.	nonsynonymous SNV	CHI3L2:NM_001025197:exon5:c.T506C:p.L169P,CHI3L2:NM_001025199:exon5:c.T299C:p.L100P,CHI3L2:NM_004000:exon6:c.T536C:p.L179P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0296700566293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.001851	0.37840	N	0.000000	1	0.81001	D	3.475	0.92503	M	3.12	0.41392	T	-6.03	0.90450	D	0.766	0.79986	-0.3322	0.74070	T	0.277	0.64916	T	10	0.91248	0.90612	D	0.02967	0.52133	D	0.366	0.68582	0.799	0.91874	0.741182922206	0.73885	0.7079538988731796	0.70737	0.124778172504	0.14054	0.465949714184	0.34125	T	0.099165	0.49844	T	0.15042	0.69307	D	-0.0217088	0.68916	D	0.991962015628815	0.82340	D	0.910309	0.76886	D	0.987576	0.99629	0.9605743	0.99002	0.987576	0.99629	0.9605743	0.99003	-12.711	0.88384	D	.	.	0.775	0.80106	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.537674	0.71295	25.7	0.99900083530911743	0.97199	0.89330	0.49730	D	AEFBCI	0.741811	0.68563	D	0.697840119597027	0.79491	7.088769	0.538075547578037	0.70571	5.524987	0.999999997834279	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	6.127000	0.71377	4.651000	0.44196	0.665000	0.62972	0.986000	0.36153	0.888000	0.27792	0.931000	0.46843	0.0:0.0:0.0:1.0	10.102	0.41682	818	0.41518	Glycoside hydrolase family 18, catalytic domain|Chitinase II;Glycoside hydrolase family 18, catalytic domain|Chitinase II;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;Glycoside hydrolase family 18, catalytic domain|Chitinase II;Glycoside hydrolase family 18, catalytic domain;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1888.33	53	chr1	111235694	.	T	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.675;DP=1797;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.04;SOR=0.59	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr1	111456112	111456112	A	G	exonic	ATP5PB	.	nonsynonymous SNV	ATP5PB:NM_001688:exon4:c.A250G:p.I84V	.	529	989	3	1	0	5	0.00252143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.004025134335	0.0029	0.00179712	0.0027	0.0008	0.0035	0	0.0002	0.0038	0	0.0015	0.0028072	434	154602	rs151112830	0.0037	0.0038	0.0038	0.0037	0.0044	0.0037	0.0036	0.0043	0.0042	0.0005	0.0032	0.0032	0	0.0002	0.0028	0.0044	0.0038	0.0012	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0042	0.0040	0.0007	0.0110	0.0027	0.0040	0.0002	9.411e-05	0	0.0046	0.0061	0.0008	0.408	0.10212	T	0.695	0.06925	T	0.004	0.12183	B	0.01	0.14941	B	0.000985	0.40743	D	0.280632	0.991048	0.25402	N	1.52	0.38360	L	1.42	0.33189	T	-0.2	0.10833	N	0.091	0.06990	-1.0245	0.22246	T	0.019	0.07800	T	10	0.007826477	0.00178	T	0.004025	0.09556	T	0.052	0.14661	.	.	0.141422826196	0.13715	0.3717193712156681	0.37085	0.161949146904	0.18268	0.402890354395	0.25471	T	0.029115	0.20935	T	-0.602405	0.00141	T	-0.63155	0.10298	T	0.00871101302680961	0.00107	T	0.849815	0.53298	T	0.04157999	0.06149	0.061053526	0.11727	0.04157999	0.06148	0.061053526	0.11727	-2.773	0.07937	T	.	.	0.09	0.24363	B	.;.	.;.	1.849476	0.23498	16.04	0.96540827363490433	0.30186	0.86473	0.45760	D	AEFGBI	0.486628	0.52572	N	-0.280028808328628	0.29920	1.663578	-0.115610644500671	0.34761	2.003172	0.999995281633204	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	3.91	0.44383	1.758000	0.38039	4.067000	0.41634	0.756000	0.94297	0.969000	0.34210	1.000000	0.68203	0.597000	0.31313	0.4859:0.3811:0.133:0.0	5.006	0.13630	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005102	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2512.33	34	chr1	111456112	.	A	G	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.319;DP=889;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.11;SOR=0.88	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.02632	1534.33	47	chr1	111477698	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=917;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.028;SOR=0.523	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1548,0,1882	18	0	1	0
chr1	111765752	111765752	G	T	exonic	DDX20	.	nonsynonymous SNV	DDX20:NM_007204:exon11:c.G1328T:p.G443V	.	426	1091	4	1	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0277632525971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	0	2.782e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.347e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.043	0.66756	D	0.977	0.61118	D	0.58	0.61184	P	0.000068	0.52346	D	0.164208	1	0.81001	D	2.175	0.60977	M	1.3	0.35590	T	-2.82	0.96839	D	0.413	0.45331	-1.0923	0.05159	T	0.045	0.19356	T	10	0.37071455	0.53453	T	0.027763	0.50530	D	0.240	0.54500	0.431	0.48007	0.729403990745	0.72700	0.807453175797473	0.80700	0.427360445182	0.43082	0.440945237875	0.30706	T	0.148133	0.48654	T	-0.0420623	0.45642	T	-0.298196	0.44915	T	0.97036337852478	0.68922	D	0.767723	0.39623	T	0.17658396	0.38579	0.26093292	0.51864	0.17658396	0.38578	0.26093292	0.51863	-5.603	0.42820	T	.	.	0.126	0.50213	B	.;.	.;.	3.397359	0.47066	22.4	0.99489310344372994	0.67347	0.97582	0.75697	D	AEFBI	0.449305	0.50418	N	-0.0185979741559059	0.41013	2.445753	0.0238840528465154	0.40827	2.442773	0.912682418120334	0.26402	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	2.46	0.29032	3.658000	0.54221	4.507000	0.43632	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.2851:0.0:0.7149:0.0	9.751	0.39640	886	0.28090	Helicase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1236.33	34	chr1	111765752	.	G	T	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.661;DP=715;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.717;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr1	112654579	112654579	G	A	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon5:c.G334A:p.E112K	.	433	1087	2	0	0	2	0.000919118	.	.	.	2308406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00846460602704	7.7e-05	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001358	21	154602	rs201525157	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	2.236e-05	0.0052	0	0	0.0009	2.968e-05	0.0003	0	0.0002	0.0002	8.991e-05	0.0002	0.0005	0.0001	8.719e-05	0.0002	0.0002	0	0	0.0005	0.0035	0	0	0	5.879e-05	0	0	0.158	0.23905	T	0.529	0.10138	T	0.049	0.22227	B	0.057	0.26280	B	0.001402	0.39109	N	0.276256	0.990436	0.41159	D	2.085	0.57729	M	.	.	.	-1.58	0.38151	N	0.175	0.18784	-0.9243	0.44957	T	0.127	0.43380	T	9	0.007357806	0.00167	T	0.008465	0.22382	T	0.081	0.23632	.	.	0.355073828461	0.35122	0.26248187972857734	0.26161	0.294120371574	0.31833	0.448904901743	0.31794	T	0.070673	0.34018	T	-0.171871	0.24951	T	-0.401792	0.33176	T	0.0870286164622248	0.10862	T	0.874613	0.58533	D	0.19942418	0.41881	0.19271238	0.42801	0.19942418	0.41881	0.19271238	0.42800	-4.247	0.27427	T	.	.	0.199	0.42259	B	.	.	3.963186	0.58142	23.9	0.99767529556534751	0.85583	0.97886	0.77870	D	AEFGBI	0.858284	0.77578	D	-0.02678534983373	0.40646	2.417329	0.10825096517498	0.44970	2.768607	0.993913765846362	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	6.760000	0.74735	11.859000	0.98275	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.484	0.87576	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1815.33	33	chr1	112654579	.	G	A	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.848;DP=750;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.223;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	18	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,18:101:79:.:.:79,0,2038:.	5	0	14	0
chr1	112922048	112922048	A	C	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon3:c.T303G:p.I101M,SLC16A1:NM_003051:exon3:c.T303G:p.I101M	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	0	1506	15	1	0	17	0.00561241	.	.	.	761080	SLC16A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.233	0.0543749380813	0.0002	0.000399361	0.0008	0	0.0003	0	0	0.0001	0	0.0049	0.0006404	99	154602	rs148691598	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0	4.472e-05	0.0003	0	0	0.0016	8.183e-05	0.0005	0.0041	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	2.404e-05	0	6.533e-05	0.0006	0	0	0	0.0002	0	0.0023	0.002	0.78490	D	0.024	0.56640	D	0.571	0.38591	P	0.507	0.47859	P	0.000002	0.62929	D	0.102292	0.995346	0.42649	D	2.48	0.72069	M	1.21	0.37230	T	-2.04	0.49187	N	0.594	0.61680	-1.0293	0.20681	T	0.073	0.29675	T	10	0.010250062	0.00229	T	0.054375	0.65832	D	0.233	0.53499	.	.	0.454402166774	0.45062	0.5125292038885104	0.51174	0.715118187512	0.61921	0.432378649712	0.29534	T	0.375189	0.73884	T	-0.33239	0.05932	T	-0.250102	0.49808	T	0.130130839262335	0.15394	T	.	.	.	0.48254606	0.66054	0.42806867	0.66532	0.48254606	0.66055	0.42806867	0.66532	-5.767	0.44286	T	.	.	0.114	0.32299	B	.;.;.;.;.	.;.;.;.;.	1.735486	0.22085	15.47	0.99217846312231561	0.55808	0.31447	0.24340	N	AEFGBI	0.329779	0.43002	N	-0.499304006188602	0.22103	1.177903	-0.612055445080798	0.19182	1.028107	0.942524458115551	0.27526	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.631631	0.49550	0	.	.	5.9	-0.716	0.10647	-0.432000	0.07026	-0.973000	0.06739	-0.113000	0.14837	0.042000	0.21073	0.000000	0.08366	0.503000	0.29084	0.5312:0.0:0.3519:0.1169	5.980	0.18635	787	0.46738	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	687.33	33	chr1	112922048	.	A	C	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.733;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	18	0	1	0
chr1	113590585	113590585	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865C:p.D289H,MAGI3:NM_152900:exon5:c.G865C:p.D289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0204542414694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	2.554e-05	1.873e-05	0.0002	0.0003	0.0002	9.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.72154	D	0.016	0.64786	D	0.682	0.73220	P	0.771	0.64423	P	0.000000	0.84330	D	0.090924	0.999997	0.58761	D	2.25	0.63811	M	2.45	0.16640	T	-2.31	0.51319	N	0.323	0.38746	-1.1300	0.01782	T	0.055	0.23110	T	10	0.28733623	0.46316	T	0.020454	0.43047	T	0.206	0.49396	0.246	0.18139	0.110392049598	0.10638	0.5781545728661651	0.57744	0.684559319626	0.60227	0.599302053452	0.52805	T	0.432916	0.78052	T	-0.107333	0.35209	T	-0.391953	0.34322	T	0.965076804161072	0.67154	D	0.90371	0.66210	D	0.4653931	0.65007	0.40592608	0.64980	0.4653931	0.65008	0.40592608	0.64980	-10.751	0.83431	D	.	.	0.556	0.67064	A	.;.;.;.	.;.;.;.	4.085831	0.60819	24.3	0.99181362579056509	0.54701	0.99025	0.90130	D	AEFDI	0.863854	0.78249	D	0.432571078238433	0.63221	4.551813	0.37549369735247	0.60058	4.189281	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	549.71	122	chr1	113590585	.	G	C	549.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.568;DP=1025;ExcessHet=0;FS=139.127;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=1.79;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0:56:0:.:.:0,0,1285:.	17	0	1	1
chr1	113590588	113590588	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868C:p.E290Q,MAGI3:NM_152900:exon5:c.G868C:p.E290Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00616133793637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.078	0.58089	T	0.997	0.70673	D	0.962	0.70672	D	0.000007	0.62929	D	0.142947	0.999986	0.54805	D	2.51	0.73131	M	2.49	0.16640	T	-1.92	0.44657	N	0.253	0.28616	-1.0929	0.05066	T	0.066	0.27156	T	10	0.19556746	0.35413	T	0.006161	0.16141	T	0.332	0.65424	0.304	0.27325	0.374301178862	0.37045	0.4197019931616899	0.41886	0.614899939154	0.55992	0.549924015999	0.45846	T	0.107787	0.42028	T	-0.0706025	0.41229	T	-0.339192	0.40435	T	0.910349726676941	0.56555	D	0.935006	0.75597	D	0.26657125	0.49727	0.15598898	0.36540	0.26657125	0.49727	0.15598898	0.36539	-8.698	0.72310	D	.	.	0.286	0.53072	B	.;.;.;.	.;.;.;.	4.387163	0.67679	25.1	0.9664328710280794	0.30560	0.99365	0.95074	D	AEFDI	0.890581	0.82574	D	0.412724917961006	0.62121	4.422935	0.378898146091507	0.60264	4.212223	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	866.45	122	chr1	113590588	.	G	C	866.45	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.148;DP=1366;ExcessHet=0.119;FS=251.524;InbreedingCoeff=-0.0872;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:60,0:60:0:.:.:0,0,1437:.	16	0	1	2
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	866.45	122	chr1	113590588	.	G	A	866.45	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.148;DP=1366;ExcessHet=0.119;FS=251.524;InbreedingCoeff=-0.0872;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:60,0:60:0:.:.:0,0,1437:.	16	0	1	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2186.94	114	chr1	113590590	.	G	C	2186.94	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.133;DP=1393;ExcessHet=0.7564;FS=347.698;InbreedingCoeff=-0.3104;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.845;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:52,0:52:0:.:.:0,0,558:.	5	0	4	10
chr1	113642285	113642285	A	G	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon10:c.A1735G:p.I579V,MAGI3:NM_152900:exon10:c.A1735G:p.I579V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00360965283915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.01946	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.06944	B	0.000059	0.53742	N	0.200579	0.999959	0.52396	D	-0.5	0.02616	N	1.18	0.37746	T	0.13	0.05810	N	0.065	0.07262	-0.9382	0.42900	T	0.011	0.04181	T	10	0.024552286	0.00679	T	0.00361	0.08278	T	0.048	0.13305	0.308	0.27967	0.0675242888579	0.06100	0.12778043727055563	0.12704	0.134233228258	0.15122	0.401320397854	0.25252	T	.	.	.	-0.254844	0.13510	T	-0.603842	0.12490	T	0.0690410882234573	0.08516	T	0.79822	0.44280	T	0.06885557	0.15037	0.044933017	0.05932	0.06885557	0.15036	0.044933017	0.05931	-2.768	0.18495	T	.	.	0.079	0.08705	B	.;.;.;.	.;.;.;.	1.321230	0.17251	13.05	0.43053235181017752	0.03215	0.71018	0.34834	D	AEFBI	0.154868	0.27996	N	-0.664855293412205	0.17028	0.8728138	-0.440602208151044	0.23816	1.300793	0.0690157571599832	0.15477	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	2.271000	0.43023	-0.029000	0.12820	0.754000	0.88378	1.000000	0.71638	0.001000	0.17328	0.999000	0.91618	0.7988:0.0:0.2012:0.0	9.601	0.38772	454	0.79125	.;PDZ domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2820.33	200	chr1	113642285	.	A	G	2820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.448;DP=831;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.764;SOR=0.82	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1159	18	0	1	0
chr1	113643746	113643746	C	T	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon11:c.C1970T:p.P657L,MAGI3:NM_152900:exon11:c.C1970T:p.P657L	.	428	1092	2	0	0	2	0.000914913	.	.	.	3277696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0146952979715	.	.	8.237e-05	0	8.639e-05	0	0	8.991e-05	0	0.0002	6.47e-05	10	154602	rs776447798	3.626e-05	3.694e-05	3.268e-05	3.989e-05	0.0005	2.829e-05	2.565e-05	0.0001	7.541e-05	0	6.712e-05	0	0	0	0.0005	3.148e-05	3.312e-05	0.0001	3.95e-05	3.941e-05	1.287e-05	6.735e-05	0.0004	1.718e-05	1.131e-05	7.318e-05	3.039e-05	0	0	0	0	0	0	0	4.414e-05	0.0005	0.0004	0.94	0.03044	T	0.829	0.05416	T	0.005	0.38321	B	0.012	0.34892	B	0.000067	0.52346	D	0.173541	1	0.81001	D	1.065	0.27018	L	1.01	0.41058	T	0.57	0.02638	N	0.652	0.66272	-1.0877	0.05925	T	0.040	0.17234	T	10	0.13674295	0.26014	T	0.014695	0.34987	T	0.090	0.26093	0.405	0.43738	0.043077524339	0.03247	0.2938041940126131	0.29293	0.295400472236	0.31942	0.5752825737	0.49421	T	.	.	.	-0.2443	0.14806	T	-0.329018	0.41578	T	0.168904542922974	0.18505	T	0.857714	0.54741	D	0.31296256	0.54041	0.12688674	0.30554	0.31296256	0.54041	0.12688674	0.30553	-9.05	0.68363	D	.	.	0.081	0.10159	B	.;.;.;.	.;.;.;.	4.122754	0.61634	24.4	0.73308433364062375	0.10281	0.98018	0.78912	D	AEFBI	0.529553	0.55062	D	-0.0285400114108962	0.40567	2.411253	0.167664976360889	0.48087	3.029348	0.995956578124789	0.34431	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	5.093000	0.64351	7.730000	0.67710	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.029	0.92928	454	0.79125	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1448.33	44	chr1	113643746	.	C	T	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=763;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.739;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr1	113829956	113829956	A	T	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon15:c.T1962A:p.D654E,PTPN22:NM_001308297:exon16:c.T2055A:p.D685E,PTPN22:NM_001193431:exon17:c.T2043A:p.D681E,PTPN22:NM_015967:exon17:c.T2127A:p.D709E	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00734612112316	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0010	0.0002264	35	154602	rs143703692	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0	8.965e-05	0	0	0	0.0012	0.0001	0.0002	0.0007	0.0001	0.0001	9.001e-05	0.0001	0.0010	7.577e-05	6.282e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0010	0.148	0.45393	T	0.339	0.27503	T	0.864	0.47514	P	0.321	0.41760	B	0.000077	0.52346	D	0.081904	0.681511	0.81001	D	.	.	.	3.72	0.10196	T	-2.19	0.49352	N	0.214	0.32591	-0.9971	0.30728	T	0.091	0.34710	T	10	0.048098445	0.04215	T	0.007346	0.19496	T	0.158	0.41098	0.125	0.03095	0.643351887025	0.64040	0.06498413452890517	0.06437	0.364002869966	0.38022	0.422649919987	0.28201	T	0.029261	0.24313	T	-0.284658	0.10179	T	-0.262195	0.48605	T	0.153718372421694	0.17396	T	0.758124	0.56501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.44319	B	.;.;.;.;.	.;.;.;.;.	2.357413	0.30230	18.37	0.99573516924591421	0.72561	0.70344	0.34552	D	AEFGBI	0.179982	0.30727	N	0.263410975271682	0.54304	3.596429	0.232805314838205	0.51676	3.348154	0.996029948566263	0.34476	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	6.03	2.38	0.28415	0.811000	0.26855	2.639000	0.33742	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.7793:0.0:0.2207:0.0	8.576	0.32761	653	0.62661	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	415.33	35	chr1	113829956	.	A	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.227;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	18	0	1	0
chr1	113837829	113837829	C	G	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon11:c.G1406C:p.G469A,PTPN22:NM_001308297:exon12:c.G1499C:p.G500A,PTPN22:NM_001193431:exon13:c.G1571C:p.G524A,PTPN22:NM_015967:exon13:c.G1571C:p.G524A	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0141335806231	.	0.00179712	0.0012	0	8.637e-05	0	0	0	0.0022	0.0088	0.001022	158	154602	rs556833484	0.0006	0.0006	0.0003	0.0009	0.0094	0.0005	0.0005	0.0089	0.0087	0	4.472e-05	0	0	0	0.0002	2.698e-06	0.0004	0.0094	0.0004	0.0004	0.0002	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	0	0	6.539e-05	0	0	0	0	0	0	0.0112	0.184	0.29288	T	0.585	0.15650	T	0.059	0.23051	B	0.021	0.19346	B	0.536190	0.05286	N	1.213900	1	0.08975	N	.	.	.	0.03	0.62183	T	-0.48	0.20576	N	0.134	0.17002	-1.0254	0.21952	T	0.062	0.25958	T	10	0.0039672256	0.00076	T	0.014134	0.34038	T	0.044	0.11924	0.223	0.14665	0.480497669815	0.47680	0.09743939181823733	0.09674	0.0807298937023	0.09083	0.190764069557	0.00239	T	0.016171	0.13421	T	-0.549282	0.00294	T	-0.555385	0.16812	T	0.0136886278171624	0.00256	T	0.813219	0.46599	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.12181	B	.;.;.;.;.	.;.;.;.;.	-0.554296	0.01701	0.124	0.4309239754206633	0.03221	0.09362	0.15133	N	AEFBI	0.127551	0.24496	N	-1.29661861324725	0.03716	0.1665005	-1.28893593539482	0.04579	0.2163231	0.00709687025122494	0.11383	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.96	0.699	0.17252	0.050000	0.14004	-1.272000	0.05850	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4909:0.0:0.5091	9.758	0.39684	656	0.62345	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1337.33	34	chr1	113837829	.	C	G	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.494;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr1	113900209	113900209	T	G	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.A305C:p.Q102P,AP4B1:NM_001253852:exon5:c.A809C:p.Q270P,AP4B1:NM_001253853:exon6:c.A512C:p.Q171P,AP4B1:NM_006594:exon6:c.A809C:p.Q270P	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0388368025689	.	0.000998403	0.0002	0	8.637e-05	0	0	0	0.0011	0.0013	0.0001876	29	154602	rs528997061	7.947e-05	7.935e-05	3.679e-05	0.0001	0.0013	6.744e-05	6.276e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	0.0001	0.0013	0.0001	0.0001	5.14e-05	0.0002	0.0033	6.507e-05	5.319e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.008	0.58626	D	0.157	0.35840	T	0.997	0.77913	D	0.979	0.74454	D	0.000086	0.51296	D	0.181162	0.999952	0.52396	D	2.22	0.62911	M	-0.23	0.66652	T	-3.29	0.66549	D	0.693	0.74371	-0.3587	0.73301	T	0.366	0.72628	T	10	0.07646686	0.11949	T	0.038837	0.58459	D	0.420	0.72930	0.764	0.89213	0.880942240655	0.87977	0.8123140480002626	0.81187	0.605044700415	0.55414	0.573102355003	0.49116	T	0.27378	0.68895	T	-0.240805	0.15246	T	-0.154055	0.58883	T	0.266569974956582	0.23600	T	0.918808	0.70803	D	0.5282929	0.68733	0.5613961	0.74622	0.5282929	0.68734	0.5613961	0.74622	-12.675	0.87980	D	.	.	0.546	0.74342	A	.;.;.;.;.	.;.;.;.;.	3.229066	0.44031	21.9	0.9888631601548854	0.47912	0.98359	0.81978	D	AEFBI	0.777311	0.71016	D	0.494381779979038	0.66761	4.992086	0.433202286066479	0.63647	4.602475	0.999999767527275	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	4.839000	0.62502	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:0.0:0.0:1.0	15.165	0.72500	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2139.33	33	chr1	113900209	.	T	G	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=794;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.523;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1331	18	0	1	0
chr1	113900251	113900251	G	A	exonic	AP4B1	.	nonsynonymous SNV	AP4B1:NM_001308312:exon2:c.C263T:p.T88I,AP4B1:NM_001253852:exon5:c.C767T:p.T256I,AP4B1:NM_001253853:exon6:c.C470T:p.T157I,AP4B1:NM_006594:exon6:c.C767T:p.T256I	Spastic paraplegia 47, autosomal recessive, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	.	215180	not_specified|AP4B1-related_disorder|not_provided|Inborn_genetic_diseases|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_47	MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013551,MedGen:C3279738,OMIM:614066,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.0105542815335	0.0011	0.00119808	0.0013	0.0004	0.0020	0	0	0.0015	0	0.0018	0.001313	203	154602	rs143286419	0.0013	0.0013	0.0013	0.0014	0.0342	0.0013	0.0013	0.0303	0.0288	0.0015	0.0029	0.0019	0	1.876e-05	0.0342	0.0011	0.0023	0.0018	0.0014	0.0015	0.0012	0.0017	0.0039	0.0013	0.0012	0.0031	0.0028	0.0008	0	0.0039	0.0003	0	0	0.0204	0.0014	0.0038	0.0025	0.446	0.09101	T	0.518	0.10536	T	0.014	0.16867	B	0.02	0.19048	B	0.000374	0.45194	D	0.259697	0.997088	0.43619	D	-0.19	0.04217	N	2.13	0.19588	T	0.72	0.02518	N	0.781	0.77789	-1.0251	0.22050	T	0.016	0.06329	T	10	0.009812593	0.00220	T	0.010554	0.27217	T	0.176	0.44373	.	.	0.480647642424	0.47694	0.22572069538325795	0.22487	0.135383223776	0.15262	0.529147326946	0.42913	T	0.061945	0.34700	T	-0.438873	0.01313	T	-0.407802	0.32480	T	0.0253416822341745	0.01318	T	0.918208	0.72634	D	0.18973304	0.40527	0.16205072	0.37662	0.18973304	0.40527	0.16205072	0.37661	-10.398	0.76259	D	0.2050978328686585	0.27353	0.28	0.52841	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086434	0.41541	21.4	0.89591819392506655	0.18929	0.92439	0.55715	D	AEFDBI	0.635662	0.61510	D	-0.186115556344549	0.33712	1.915728	0.0515450848008477	0.42146	2.544233	0.999999897504337	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	5.954000	0.70017	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.860	0.92236	574	0.70151	Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.026183	0.040404	0.021739	0.049708	0.000000	0.060345	0.018293	0.000000	0.02632	1517.33	33	chr1	113900251	.	G	A	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=750;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.57;SOR=0.942	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1331	18	0	1	0
chr1	113971997	113971997	G	A	exonic	HIPK1	.	nonsynonymous SNV	HIPK1:NM_152696:exon15:c.G3187A:p.V1063I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00813108255668	0.0008	0.000998403	0.0009	9.612e-05	0.0003	0	0.0005	0.0011	0	0.0017	0.0009508	147	154602	rs150942801	0.0009	0.0009	0.0009	0.0009	0.0031	0.0009	0.0009	0.0020	0.0017	0.0002	0.0005	7.66e-05	0	0.0002	0.0031	0.0010	0.0012	0.0017	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0008	0.0008	0.0004	0	0.0006	0	0	0.0003	0.0068	0.0010	0.0024	0.0008	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.12	0.08809	N	0.07	0.04307	-1.0201	0.23682	T	0.018	0.07282	T	8	0.009508342	0.00214	T	0.008131	0.21547	T	0.009	0.00846	.	.	0.305252298933	0.30134	.	.	.	.	.	.	.	.	.	.	-0.565513	0.00235	T	-0.598327	0.12952	T	0.0482288225605852	0.05185	T	0.260474	0.04175	T	.	.	.	.	.	.	.	.	-4.513	0.31058	T	.	.	0.130	0.28027	B	.	.	-1.563931	0.00259	0.004	0.71044155581920632	0.09496	0.07002	0.13029	N	AEFBCI	0.043268	0.06818	N	-1.69948261515449	0.00844	0.03649226	-1.80077093740578	0.00756	0.03373533	0.999999721645166	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.36	-10.7	0.00191	-2.494000	0.01048	-7.142000	0.01221	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.287000	0.24188	0.1514:0.3935:0.455:0.0	12.031	0.52694	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1818.33	34	chr1	113971997	.	G	A	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.198;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr1	114425560	114425560	A	C	exonic	TRIM33	.	nonsynonymous SNV	TRIM33:NM_015906:exon9:c.T1584G:p.H528Q,TRIM33:NM_033020:exon9:c.T1584G:p.H528Q	.	.	.	.	.	.	.	.	.	.	.	2264777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00648553813192	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs753197271	4.104e-06	4.104e-06	1.361e-06	6.875e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.02116	T	1.0	0.01155	T	0.002	0.12183	B	0.002	0.11217	B	0.002194	0.37053	N	0.318460	0.925301	0.42106	D	-0.295	0.03650	N	-0.65	0.72237	T	-0.34	0.12661	N	0.179	0.19325	-1.0808	0.07194	T	0.024	0.10148	T	10	0.05027309	0.04736	T	0.006486	0.17072	T	0.044	0.11924	0.303	0.27164	0.264728329957	0.26087	0.16907665737222827	0.16827	0.527645820895	0.50370	0.691351652145	0.65900	T	0.05217	0.29085	T	-0.114328	0.34056	T	-0.402	0.33151	T	0.0283241757056803	0.01735	T	0.786321	0.42853	T	0.034720384	0.03949	0.046891928	0.06637	0.034720384	0.03949	0.046891928	0.06636	-3.631	0.18306	T	.	.	0.086	0.16843	B	.;.	.;.	1.493067	0.19202	14.14	0.5955356411642585	0.06251	0.76453	0.37497	D	AEFBHI	0.127104	0.24432	N	-0.167380687406795	0.34498	1.969808	-0.0678696569203094	0.36726	2.141088	0.935364457585209	0.27210	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.36	0.28258	0.618000	0.24068	0.794000	0.21595	0.756000	0.94297	0.996000	0.39380	0.976000	0.30059	0.999000	0.91618	0.6018:0.1458:0.2523:0.0	5.405	0.15616	217	0.91564	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1795.33	46	chr1	114425560	.	A	C	1795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=856;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=1.04;SOR=0.877	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	114587782	114587782	A	C	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon16:c.T2431G:p.F811V,DENND2C:NM_001256404:exon19:c.T2602G:p.F868V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.104839659754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	5.472e-06	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	0.54	0.54911	T	-6.42	0.91268	D	0.957	0.97750	-0.1704	0.78419	T	0.355	0.71827	T	10	0.96066105	0.95472	D	0.10484	0.77963	D	0.782	0.92746	0.825	0.93657	0.824315377144	0.82265	0.5744396848383087	0.57372	0.428243941696	0.43150	0.836233615875	0.87519	D	0.104277	0.41370	T	0.330162	0.85178	D	0.236479	0.84982	D	0.996985375881195	0.90511	D	0.998792	0.99376	D	0.8280627	0.85769	0.81115717	0.88973	0.8280627	0.85770	0.81115717	0.88974	-8.84	0.68804	D	.	.	0.906	0.85593	P	.;.;.	.;.;.	5.233246	0.87849	29.4	0.99251178681674002	0.56891	0.99428	0.95904	D	AEFDGBHI	0.937180	0.93459	D	0.910225850195385	0.92253	11.31757	0.86430900389109	0.93824	12.306	0.999999998982814	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.9	5.9	0.94952	8.947000	0.92735	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	16.378	0.83245	731	0.54177	.;dDENN domain|Tripartite DENN domain|dDENN domain;dDENN domain|Tripartite DENN domain|dDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	34	chr1	114587782	.	A	C	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.853;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.62;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	18	0	1	0
chr1	114604995	114604995	C	T	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon8:c.G1423A:p.E475K,DENND2C:NM_001256404:exon11:c.G1594A:p.E532K	.	431	1088	3	0	0	3	0.00137678	.	.	.	3426825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0281286796816	7.7e-05	.	4.178e-05	0	0	0.0001	0	6.09e-05	0	0	3.23e-05	5	154602	rs201938234	2.532e-05	2.531e-05	2.179e-05	2.888e-05	0.0003	1.868e-05	1.631e-05	6.099e-05	2.524e-05	5.977e-05	0	0	2.522e-05	0	0.0003	2.608e-05	3.313e-05	1.16e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.122	0.59928	T	0.12	0.62352	T	0.021	0.61523	B	0.143	0.64886	B	0.000004	0.62929	D	0.107611	0.999856	0.51042	D	1.82	0.47800	L	0.99	0.41750	T	-3.2	0.65056	D	0.36	0.40164	-0.8415	0.52547	T	0.182	0.52980	T	10	0.29942054	0.47495	T	0.028129	0.50849	D	0.156	0.40720	.	.	0.608219498563	0.60507	0.3715452915690174	0.37068	0.337478114014	0.35739	0.495502650738	0.38202	T	0.045	0.26988	T	-0.23943	0.15421	T	-0.366366	0.37313	T	0.663228452205658	0.39038	D	0.887611	0.61581	D	0.37578002	0.59009	0.32875115	0.58761	0.37578002	0.59010	0.32875115	0.58760	-10.028	0.75436	D	.	.	0.262	0.49635	B	.;.;.	.;.;.	4.811074	0.78262	26.9	0.99839789518380528	0.92057	0.98243	0.80867	D	AEFBI	0.776319	0.70946	D	0.432337713277527	0.63209	4.550244	0.512305184658042	0.68818	5.272722	0.999998741836981	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	4.502000	0.60122	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:1.0:0.0:0.0	20.177	0.98183	737	0.53483	.;uDENN domain|Tripartite DENN domain|uDENN domain;uDENN domain|Tripartite DENN domain|uDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1329.33	33	chr1	114604995	.	C	T	1329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.082;DP=725;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.24;SOR=0.81	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H,AMPD1:NM_000036:exon4:c.G224A:p.R75H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1450	69	2	0	73	0.0245543	.	.	.	177319	Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder|not_specified	MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.008152	0.020468	0.100000	0.008621	0.048780	0.007576	0.05263	2064.83	34	chr1	114686902	.	C	T	2064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.07;DP=749;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.12;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1443	17	0	2	0
chr1	114732647	114732647	A	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.T914C:p.V305A,CSDE1:NM_001242892:exon9:c.T1007C:p.V336A,CSDE1:NM_007158:exon9:c.T914C:p.V305A,CSDE1:NM_001007553:exon10:c.T1007C:p.V336A,CSDE1:NM_001130523:exon10:c.T1052C:p.V351A,CSDE1:NM_001242891:exon11:c.T1145C:p.V382A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.00156139043317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.604e-05	0.0003	2.364e-05	8.399e-06	1.933e-05	1.069e-05	8.93e-06	1.242e-05	1.054e-05	0	0	0	0	0	0	1.933e-05	3.368e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.004	0.74150	D	0.083	0.24734	B	0.038	0.23361	B	0.000054	0.53742	D	0.166893	0.999516	0.50595	D	0.345	0.11182	N	.	.	.	-1.63	0.40274	N	0.533	0.56403	-1.0477	0.15045	T	0.058	0.24428	T	9	0.31444314	0.48886	T	0.001561	0.02471	T	0.227	0.52620	0.356	0.35734	0.484031237447	0.48032	0.6591811775958599	0.65855	1.01023712014	0.74737	0.715481638908	0.69388	T	0.194949	0.55088	T	0.0626786	0.59948	T	-0.147743	0.59443	T	0.79146121837727	0.45785	D	0.891811	0.69967	D	0.14498597	0.33255	0.20398682	0.44501	0.14498597	0.33255	0.20398682	0.44501	-10.916	0.81785	D	.	.	0.800	0.77278	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.426471	0.68609	25.3	0.9977654716377653	0.86346	0.97154	0.73007	D	AEFBCI	0.912326	0.87280	D	0.0162420309121575	0.42593	2.569352	0.258817730721698	0.53151	3.485614	0.999995702308975	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	8.947000	0.92735	11.305000	0.92359	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	16.290	0.82575	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr1	114732647	.	A	G	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.73;DP=858;ExcessHet=0;FS=137.693;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=2.1;SOR=7.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:96,51:151:99:582,0,1309	3	0	16	0
chr1	114774300	114774300	T	C	exonic	SIKE1	.	nonsynonymous SNV	SIKE1:NM_001102396:exon5:c.A607G:p.M203V,SIKE1:NM_025073:exon5:c.A595G:p.M199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	0.00419329	0.0011	0	0	0.0147	0	0	0.0022	0.0004	0.0010996	170	154602	rs118113115	0.0005	0.0005	0.0005	0.0005	0.0169	0.0005	0.0005	0.0158	0.0154	0	0	0	0.0169	0	0.0005	1.89e-05	0.0007	0.0004	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0003	0.0099	0.0091	0	0	0	0	0.0124	0	0	1.47e-05	0.0005	0.0006	0.688	0.04328	T	0.552	0.09457	T	0.0	0.02946	B	0.0	0.01387	B	0.768739	0.09564	N	0.919133	1	0.08975	N	0	0.06538	N	.	.	.	0.44	0.03243	N	0.037	0.01135	-0.9875	0.33224	T	0.018	0.07612	T	9	0.0025716722	0.00039	T	.	.	.	0.073	0.21317	.	.	0.298056030225	0.29408	0.1474542053200095	0.14667	0.362950767261	0.37933	0.24692979455	0.03451	T	0.014778	0.12515	T	-0.688879	0.00042	T	-0.750627	0.03461	T	0.00394708112734141	0.00042	T	0.50065	0.15660	T	0.026892133	0.01805	0.04556906	0.06162	0.026892133	0.01805	0.04556906	0.06161	-2.235	0.04305	T	.	.	0.048	0.00107	B	.;.	.;.	0.257673	0.06365	2.828	0.40436869669715114	0.02854	0.03436	0.08572	N	AEFBI	0.025234	0.01695	N	-1.07371129428178	0.07131	0.3303443	-1.05299388229308	0.08644	0.4260638	0.877737486408175	0.25552	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	-3.78	0.04049	-0.313000	0.08143	-1.744000	0.04806	0.665000	0.62972	0.532000	0.27205	0.000000	0.08366	0.997000	0.79791	0.1004:0.531:0.1019:0.2667	6.534	0.21541	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	38	chr1	114774300	.	T	C	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.349;DP=703;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.263;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	18	0	1	0
chr1	116124181	116124181	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon4:c.G305A:p.C102Y	.	433	1087	2	0	0	2	0.000919118	.	.	.	3449431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00878675410091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs149580249	1.915e-05	1.915e-05	1.497e-05	2.338e-05	0.0005	1.328e-05	1.144e-05	0.0001	7.546e-05	2.987e-05	6.708e-05	0	0	0	0.0005	1.619e-05	4.967e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	6.539e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.879e-05	0	0	0.031	0.45039	D	0.039	0.51112	D	0.003	0.11197	B	0.004	0.10090	B	0.414103	0.12957	N	0.729871	0.679845	0.30289	N	1.645	0.42016	L	2.24	0.17923	T	-1.61	0.38734	N	0.218	0.24385	-0.9306	0.44051	T	0.010	0.03719	T	10	0.11671254	0.22023	T	0.008787	0.23196	T	0.054	0.15330	0.384	0.40298	0.188950314367	0.18478	0.7629482908948151	0.76242	0.102732869244	0.11620	0.30912142992	0.11774	T	0.066132	0.32868	T	-0.415808	0.01820	T	-0.638085	0.09810	T	0.0821479484438896	0.10261	T	0.593441	0.21910	T	0.11117166	0.26273	0.11846318	0.28595	0.11117166	0.26272	0.11846318	0.28595	-4.24	0.27327	T	.	.	0.101	0.17615	B	.	.	1.874441	0.23810	16.16	0.66554705459074759	0.08093	0.74082	0.36236	D	AEFDBI	0.256456	0.37538	N	-0.807292231229606	0.13124	0.6443282	-0.743392093774513	0.15884	0.8376579	0.99174165817547	0.32594	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	2.54	0.29674	3.107000	0.50021	4.626000	0.44096	-0.154000	0.11915	1.000000	0.71638	0.990000	0.31317	0.329000	0.25179	0.104:0.4029:0.3786:0.1145	3.771	0.08164	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	36	chr1	116124181	.	G	A	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.677;DP=798;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-2.153;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr1	116124222	116124222	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon4:c.G346A:p.V116M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00710080814331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.017	0.60337	D	0.968	0.56581	D	0.865	0.61524	P	0.454236	0.12469	N	0.709097	1	0.08975	N	2.685	0.78553	M	3.14	0.07920	T	-0.62	0.18248	N	0.468	0.50418	-1.0287	0.20876	T	0.020	0.08407	T	10	0.42313272	0.56997	T	0.007101	0.18814	T	0.083	0.24192	0.397	0.42426	0.488477830397	0.48481	0.5393875271829892	0.53863	0.344644549015	0.36394	0.310942351818	0.12049	T	0.046774	0.27524	T	-0.226786	0.17075	T	-0.563539	0.16046	T	0.750424444864637	0.43309	D	0.90251	0.65969	D	0.07058906	0.15560	0.06378657	0.12688	0.07058906	0.15559	0.06378657	0.12688	-4.43	0.29961	T	.	.	0.114	0.22644	B	.	.	3.299850	0.45293	22.1	0.99810551275314219	0.89442	0.49678	0.28488	N	AEFDBI	0.119263	0.23284	N	0.117749885454904	0.47292	2.956888	-0.019293120522756	0.38844	2.294414	0.956200762432392	0.28234	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	0.901	0.18416	2.497000	0.45014	3.633000	0.39322	0.676000	0.76740	1.000000	0.71638	0.569000	0.25561	0.988000	0.63387	0.2363:0.146:0.6177:0.0	5.612	0.16688	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1375.33	36	chr1	116124222	.	G	A	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.677;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr1	116133153	116133153	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon7:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0185504558805	7.7e-05	.	0.0001	0	0	0	0	0	0.0022	0.0007	9.06e-05	14	154602	rs150571972	7.798e-05	7.798e-05	6.398e-05	9.213e-05	0.0006	6.6e-05	6.142e-05	0.0004	0.0004	2.987e-05	0	3.827e-05	0	0	0	5.306e-05	6.623e-05	0.0006	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.016	0.51853	D	0.053	0.47336	T	0.906	0.49993	P	0.418	0.45020	B	0.003059	0.35512	N	0.216570	1	0.81001	D	2.81	0.81869	M	2.85	0.10578	T	-2.51	0.54546	D	0.809	0.80473	-1.1037	0.03672	T	0.032	0.13592	T	10	0.5419329	0.63768	D	0.01855	0.40650	T	0.395	0.71004	.	.	0.62212452058	0.61905	0.7169952577790302	0.71642	0.255869905752	0.28170	0.617610454559	0.55391	T	0.274883	0.64740	T	-0.0457486	0.45091	T	0.0760039	0.75311	D	0.729973196983337	0.42209	D	0.920308	0.71149	D	0.3768272	0.59086	0.418065	0.65841	0.3768272	0.59086	0.418065	0.65842	-5.766	0.44277	T	.	.	0.616	0.69555	P	.	.	4.679065	0.74854	26.2	0.99861767119201916	0.94002	0.98221	0.80666	D	AEFBI	0.878383	0.80361	D	0.607009640837041	0.73616	5.995546	0.62406278533514	0.76692	6.537966	0.999997768667829	0.74766	0.446893	0.09132	0	0.54472	0.11627	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	7.456000	0.79796	11.803000	0.96709	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	19.246	0.93891	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2239.33	59	chr1	116133153	.	G	A	2239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=1008;ExcessHet=0;FS=3.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.298;SOR=0.468	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	116403930	116403930	G	A	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon22:c.G2998A:p.V1000I,ATP1A1:NM_001160233:exon22:c.G2998A:p.V1000I,ATP1A1:NM_001160234:exon22:c.G2905A:p.V969I	.	.	.	.	.	.	.	.	.	.	.	3137176	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.287	0.0162778777097	.	.	4.12e-05	0	8.637e-05	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs753827120	1.095e-05	1.094e-05	9.529e-06	1.238e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0.0007	8.993e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.516	0.07354	T	0.62	0.07444	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	D	0.061993	0.998066	0.44470	D	0.025	0.08010	N	-3.76	0.95561	D	-0.17	0.09627	N	0.116	0.10483	-0.1945	0.77813	T	0.523	0.82206	D	10	0.18740433	0.34249	T	0.016278	0.37459	T	0.287	0.60574	0.412	0.44887	0.554237320764	0.55083	0.5570981241014228	0.55636	1.11663288113	0.78184	0.698992192745	0.66997	T	0.51112	0.82718	D	-0.121213	0.32925	T	-0.242763	0.50528	T	0.0699920795778073	0.08650	T	0.836816	0.50885	T	0.017211301	0.00254	0.042977434	0.05241	0.017211301	0.00254	0.042977434	0.05241	-2.746	0.07697	T	.	.	0.067	0.04396	B	.;.;.	.;.;.	2.592362	0.33630	19.40	0.97164411636495118	0.32647	0.85685	0.44845	D	AEFBCI	0.726582	0.67520	D	-0.274118814854026	0.30151	1.678545	-0.0524779490592832	0.37383	2.188103	0.999999922028258	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	1.052000	0.30039	7.549000	0.60236	-0.111000	0.15049	0.575000	0.27546	1.000000	0.68203	0.985000	0.61073	0.0795:0.0:0.9205:0.0	12.110	0.53133	793	0.45818	Cation-transporting P-type ATPase, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2192.33	33	chr1	116403930	.	G	A	2192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=843;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.702;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1369	18	0	1	0
chr1	116544574	116544574	T	C	exonic	CD58	.	nonsynonymous SNV	CD58:NM_001144822:exon2:c.A101G:p.Y34C,CD58:NM_001779:exon2:c.A101G:p.Y34C	.	428	1086	7	1	0	9	0.00412655	.	.	.	2273437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00510294243832	.	.	0.0002	0	8.867e-05	0	0.0002	7.73e-05	0.0011	0.0006	0.0001294	20	154602	rs762708999	8.896e-05	8.961e-05	8.27e-05	9.533e-05	0.0007	7.607e-05	7.148e-05	0.0003	0.0003	0	0	0	2.539e-05	0.0001	0.0007	6.992e-05	8.409e-05	0.0004	5.262e-05	5.255e-05	7.714e-05	2.693e-05	0.0002	2.559e-05	1.832e-05	3.762e-05	2.575e-05	2.417e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.955	0.73362	D	0.565058	0.05446	N	1.254140	1	0.08975	N	2.395	0.69210	M	1.94	0.22678	T	-4.52	0.89029	D	0.359	0.40465	-1.0331	0.19459	T	0.047	0.20195	T	10	0.09783882	0.17648	T	0.005103	0.12939	T	0.086	0.25016	.	.	0.27132560031	0.26736	0.4387497299844418	0.43791	0.937311298851	0.72079	0.337418198586	0.16051	T	0.448413	0.79031	T	-0.384082	0.02936	T	-0.437765	0.29060	T	0.271806414332503	0.23825	T	0.524548	0.17205	T	0.56707966	0.70900	0.36789575	0.62090	0.56707966	0.70901	0.36789575	0.62090	-8.664	0.65883	D	.	.	0.341	0.56507	A	.;.;.;.	.;.;.;.	0.793566	0.11639	8.226	0.98142997935176568	0.38622	0.06341	0.12339	N	AEDBHCI	0.054809	0.09996	N	-0.511143863447338	0.21719	1.154695	-0.775537562561136	0.15095	0.7922282	0.999941617580614	0.47345	0.75658	0.98901	0	0.858454	0.99946	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.86	-0.369	0.11910	-3.643000	0.00454	-1.806000	0.04692	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3263:0.0:0.0:0.6737	8.201	0.30584	685	0.59416	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1585.33	140	chr1	116544574	.	T	C	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=771;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.22;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	18	0	1	0
chr1	116616395	116616395	A	C	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon3:c.T106G:p.S36A,IGSF3:NM_001542:exon3:c.T106G:p.S36A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0171542218026	.	.	4.35e-05	0	0	0	0	6.355e-05	0	6.252e-05	3.84e-05	1	26028	rs763295548	1.577e-05	1.573e-05	8.188e-06	2.343e-05	0.0005	1.05e-05	8.77e-06	8.512e-05	3.545e-05	0	0	0	0	0	0.0005	1.171e-05	4.986e-05	5.805e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.10517	T	0.286	0.22084	T	0.997	0.70673	D	0.982	0.75477	D	0.000058	0.53742	D	0.132624	0.999998	0.58761	D	2.295	0.65404	M	4.11	0.02916	T	-1.24	0.31375	N	0.642	0.65416	-0.9091	0.46965	T	0.015	0.06282	T	10	0.7555025	0.75951	D	0.017154	0.38730	T	0.206	0.49396	0.423	0.46693	0.623116182173	0.62006	0.2701670396184123	0.26929	1.37602116957	0.84662	0.608052253723	0.54041	T	0.039007	0.25040	T	-0.241529	0.15154	T	-0.402569	0.33086	T	0.768515944480896	0.44350	D	0.688231	0.29741	T	0.10604356	0.25075	0.09516991	0.22558	0.10604356	0.25075	0.09516991	0.22558	-6.254	0.48967	T	.	.	0.203	0.44579	B	.;.;.	.;.;.	4.507396	0.70554	25.5	0.99510344990499655	0.68558	0.99135	0.91741	D	AEFBI	0.887157	0.81917	D	0.654552000669151	0.76664	6.528448	0.625685809119065	0.76812	6.560267	0.999979864973408	0.50053	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.65	4.65	0.57626	6.987000	0.75976	8.056000	0.76378	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.059	0.52852	656	0.62345	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	38	chr1	116616395	.	A	C	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.001;DP=668;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.77;MQRankSum=-1.69;QD=15.71;ReadPosRankSum=0.641;SOR=0.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	18	0	1	0
chr1	117075111	117075111	-	GG	exonic	TTF2	.	frameshift insertion	TTF2:NM_003594:exon5:c.527_528insGG:p.D177Efs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	100.29	92	chr1	117075111	.	A	AGG	100.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.053;DP=1303;ExcessHet=0;FS=48.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.188;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:87,0:87:99:.:.:0,120,1800:.	18	0	1	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	229.81	92	chr1	117075114	.	A	G	229.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.246;DP=1339;ExcessHet=0.119;FS=95.402;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.02;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:99:0|1:117075112_A_G:152,0,3162:117075112	18	0	1	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	229.81	92	chr1	117075114	.	ACC	A	229.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.246;DP=1339;ExcessHet=0.119;FS=95.402;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.02;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:81,0:95:99:0|1:117075112_A_G:152,396,3599:117075112	18	0	1	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	138.8	92	chr1	117075115	.	C	G	138.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.496;DP=1359;ExcessHet=0.119;FS=136.017;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.11;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:99:0|1:117075112_A_G:152,0,3162:117075112	17	0	1	1
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	138.8	92	chr1	117075115	.	C	*	138.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.496;DP=1359;ExcessHet=0.119;FS=136.017;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.11;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:81,0:95:99:0|1:117075112_A_G:152,396,3599:117075112	17	0	1	1
chr1	117075116	117075116	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C532G:p.L178V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0213300752184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.291	0.20944	T	0.799	0.44910	P	0.214	0.37471	B	0.218384	0.16197	N	0.458835	1	0.08975	N	2.125	0.59049	M	-2.25	0.87272	D	0.07	0.06138	N	0.069	0.04188	-0.5724	0.65919	T	0.361	0.72292	T	10	0.09302208	0.16428	T	0.02133	0.44082	T	0.284	0.60219	0.102	0.01589	0.727519437982	0.72510	0.0620487696778787	0.06144	0.196730262232	0.22047	0.224589943886	0.01592	T	0.095091	0.39551	T	-0.107936	0.35110	T	-0.392819	0.34220	T	0.144249540598991	0.16636	T	0.655434	0.26547	T	0.03494017	0.04019	0.042891104	0.05214	0.03494017	0.04019	0.042891104	0.05213	-3.482	0.16181	T	.	.	0.062	0.01309	B	.	.	0.157752	0.05486	1.954	0.85876684211171095	0.16168	0.21968	0.21586	N	AEFBI	0.053474	0.09639	N	-0.484094750617409	0.22602	1.207987	-0.596142495220181	0.19592	1.051903	0.324646790490361	0.19420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	2.83	0.32150	0.347000	0.19760	-0.033000	0.12769	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7033:0.1406:0.1561	7.325	0.25724	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	144.43	92	chr1	117075116	.	C	G	144.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.475;DP=1304;ExcessHet=0.119;FS=95.545;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.07;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,14:93:99:0|1:117075112_A_G:158,0,3119:117075112	18	0	1	0
chr1	117075116	117075116	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.43	92	chr1	117075116	.	C	*	144.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.475;DP=1304;ExcessHet=0.119;FS=95.545;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.07;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:79,0:93:99:0|1:117075112_A_G:158,396,3556:117075112	18	0	1	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K	.	422	1084	16	0	0	16	0.00732601	.	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.025253	0.021739	0.002924	0.050000	0.000000	0.009146	0.007576	0.02632	2246.33	34	chr1	117092779	.	G	A	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.37;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.142;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr1	117933392	117933392	A	G	exonic	WDR3	.	nonsynonymous SNV	WDR3:NM_006784:exon2:c.A73G:p.N25D	.	425	1096	1	0	0	1	0.000455996	.	.	.	2240383	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.0451060281779	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs377392703	1.915e-05	1.915e-05	1.633e-05	2.2e-05	0.0017	1.328e-05	1.144e-05	0.0009	0.0007	0	0	0	0	0	0.0017	8.993e-06	3.312e-05	6.956e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.038	0.51421	D	0.935	0.52277	P	0.494	0.47478	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.73	0.79844	M	0.34	0.58176	T	-3.84	0.72240	D	0.696	0.70088	-0.5755	0.65795	T	0.185	0.53481	T	9	0.7646744	0.76611	D	0.045106	0.61818	D	0.369	0.68844	.	.	0.749469591317	0.74720	0.600512053882863	0.59982	0.175643747234	0.19774	0.650245606899	0.60020	T	0.213409	0.57471	T	-0.121723	0.32843	T	-0.256257	0.49198	T	0.50818242611184	0.32930	D	0.89781	0.64256	D	0.6438031	0.75033	0.44956115	0.67962	0.6438031	0.75035	0.44956115	0.67962	-6.839	0.52848	T	.	.	0.337	0.55678	B	.	.	4.924239	0.81125	27.5	0.99598867945407299	0.74101	0.97393	0.74464	D	AEFBI	0.769103	0.70446	D	0.606113108968724	0.73561	5.986216	0.588555609558238	0.74116	6.082969	0.999999939849924	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	6.906000	0.75540	11.272000	0.91439	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9232:0.0:0.0768:0.0	10.866	0.46063	666	0.61362	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1449.33	34	chr1	117933392	.	A	G	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=753;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.102;SOR=0.887	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1278	18	0	1	0
chr1	117963818	117963818	C	T	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon48:c.G6653A:p.R2218H	.	427	1078	17	0	0	17	0.00782329	.	.	.	3191588	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.012	.	0.0032	0.00359425	0.0043	0.0042	0.0021	0	0.0003	0.0025	0.0067	0.0171	0.0039974	618	154602	rs112012491	0.0033	0.0034	0.0030	0.0037	0.0154	0.0033	0.0032	0.0147	0.0144	0.0034	0.0019	0.0036	0	0.0003	0.0078	0.0027	0.0038	0.0154	0.0030	0.0030	0.0028	0.0031	0.0120	0.0027	0.0026	0.0095	0.0086	0.0036	0	0.0033	0.0023	0.0004	0.0005	0	0.0025	0.0028	0.0120	0.131	0.26629	T	0.109	0.37449	T	0.012	0.16265	B	0.005	0.11217	B	0.639539	0.10612	N	0.815126	0.999999	0.08975	N	0.86	0.21358	L	2.1	0.19990	T	-1.2	0.30555	N	0.096	0.07673	-0.9560	0.39916	T	0.016	0.06521	T	10	0.0034430623	0.00061	T	.	.	.	0.012	0.01476	.	.	0.0482279557977	0.04254	0.3619842413645905	0.36112	0.0577556092581	0.06399	0.191996574402	0.00262	T	0.001675	0.01102	T	-0.672154	0.00053	T	-0.725306	0.04544	T	0.00404187994275917	0.00043	T	0.60064	0.22426	T	0.040545996	0.05807	0.04286035	0.05200	0.03825496	0.05060	0.041897234	0.04867	-3.895	0.22227	T	0.2199208819639975	0.29640	0.097	0.15698	B	.	.	1.755195	0.22329	15.57	0.60974399174801031	0.06594	0.00825	0.03327	N	AEFBI	0.045822	0.07537	N	-0.923212320509405	0.10300	0.4915675	-0.985320819739862	0.10114	0.5073824	1.01423727802349E-4	0.05123	0.554377	0.28877	0	0.601575	0.49859	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	4.76	-0.819	0.10283	-0.448000	0.06893	-1.398000	0.05533	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.174000	0.21107	0.0:0.4261:0.0:0.5739	7.656	0.27540	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005550	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.015152	0.05263	1591.83	33	chr1	117963818	.	C	T	1591.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.62;DP=767;ExcessHet=0.119;FS=1.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.062;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	17	0	2	0
chr1	117992569	117992569	G	A	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon36:c.C5258T:p.P1753L	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0194048716596	0.0011	0.00159744	0.0022	9.612e-05	0.0003	0	0.0008	0.0022	0.0011	0.0067	0.0019793	306	154602	rs138653942	0.0014	0.0014	0.0012	0.0016	0.0078	0.0013	0.0013	0.0073	0.0071	8.969e-05	0.0003	0.0036	0	0.0010	0.0042	0.0010	0.0017	0.0078	0.0012	0.0012	0.0010	0.0014	0.0098	0.0011	0.0010	0.0076	0.0068	0.0001	0	0.0007	0.0046	0	0.0008	0.0102	0.0014	0.0009	0.0098	0.426	0.41096	T	0.001	0.83351	D	0.999	0.77913	D	0.891	0.63213	P	0.002580	0.36316	N	0.312961	0.815745	0.28945	N	2.735	0.79925	M	2.06	0.20523	T	-4.57	0.83625	D	0.425	0.46462	-1.0764	0.08063	T	0.073	0.29610	T	10	0.00649935	0.00147	T	0.019405	0.41765	T	0.140	0.37593	.	.	0.535774538982	0.53228	0.4248707306109412	0.42404	0.279265533424	0.30412	0.361503064632	0.19605	T	0.098644	0.40266	T	-0.439751	0.01298	T	-0.400303	0.33349	T	0.0728390566347996	0.09044	T	0.69663	0.30630	T	0.11375114	0.26862	0.16636196	0.38436	0.15143898	0.34426	0.14953285	0.35302	-4.827	0.34905	T	0.6644099082518755	0.73840	0.111	0.24329	B	.;.	.;.	3.967373	0.58234	24.0	0.99758463967969924	0.84851	0.75001	0.36705	D	AEFI	0.343495	0.43929	N	0.409076813428699	0.61920	4.399889	0.307643509801852	0.55989	3.761703	0.0168064359160332	0.12875	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	3.943000	0.56332	9.865000	0.82085	0.662000	0.56354	0.977000	0.34929	1.000000	0.68203	0.063000	0.16184	0.0:0.0:0.8423:0.1577	13.377	0.60189	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.017241	0.006098	0.011364	0.02632	1541.33	33	chr1	117992569	.	G	A	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=771;ExcessHet=0;FS=5.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.09;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr1	118041939	118041939	T	C	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon21:c.A2918G:p.D973G	.	420	1100	1	1	0	3	0.00136178	.	.	.	3216479	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0043	0.00339457	0.0014	0.0147	0.0008	0	0	1.499e-05	0	6.057e-05	0.0012548	194	154602	rs77499057	0.0004	0.0004	0.0005	0.0004	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0006	0	0	0	0.0002	1.079e-05	0.0008	5.797e-05	0.0042	0.0042	0.0043	0.0041	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0014	0	0	0	0	1.471e-05	0.0033	0.0002	0.19	0.21144	T	0.421	0.14075	T	0.002	0.09854	B	0.003	0.08700	B	0.992552	0.08020	N	0.996046	0.983938	0.24843	N	1.59	0.40313	L	1.59	0.28836	T	-1.78	0.42001	N	0.191	0.20925	-0.9815	0.34655	T	0.021	0.08870	T	10	0.0028544962	0.00046	T	.	.	.	0.032	0.07718	.	.	0.218845423259	0.21516	0.09151254515074642	0.09084	0.217145519961	0.24230	0.33987402916	0.16420	T	0.006395	0.05823	T	-0.664987	0.00059	T	-0.71566	0.05008	T	0.00727946505167347	0.00083	T	0.526647	0.17353	T	0.101428054	0.23959	0.13892849	0.33165	0.101428054	0.23959	0.13892849	0.33164	-4.031	0.24266	T	0.2406513122920933	0.32597	0.091	0.12985	B	.	.	1.919789	0.24382	16.38	0.91179185837820309	0.20434	0.17768	0.19979	N	AEFI	0.136277	0.25689	N	-0.619056978286743	0.18373	0.9533136	-0.556005971211559	0.20647	1.113321	0.00266810245753975	0.09616	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	2.88	0.32617	1.356000	0.33683	1.127000	0.24293	0.665000	0.62972	0.067000	0.21986	0.660000	0.26011	0.548000	0.30127	0.0:0.0799:0.1534:0.7667	6.659	0.22195	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3298.33	33	chr1	118041939	.	T	C	3298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.37;DP=878;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.703;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1315	18	0	1	0
chr1	118086984	118086984	C	T	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon11:c.G1384A:p.V462I	.	427	1093	2	0	0	2	0.000914077	.	.	.	3205104	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0044	0.00359425	0.0014	0.0150	0.0007	0.0001	0	3.036e-05	0	0.0001	0.0012807	198	154602	rs116790674	0.0004	0.0004	0.0004	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0007	4.157e-05	0	0	0.0004	2.192e-05	0.0008	7.478e-05	0.0042	0.0042	0.0043	0.0041	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0015	0	0	0	0.0034	1.47e-05	0.0033	0.0002	0.517	0.07330	T	0.332	0.18449	T	0.022	0.18677	B	0.005	0.11217	B	0.944780	0.07618	N	1.023550	0.999999	0.08975	N	0	0.06538	N	2.3	0.16953	T	-0.2	0.10136	N	0.055	0.02658	-0.9158	0.46116	T	0.007	0.02558	T	10	0.0035664141	0.00064	T	.	.	.	0.037	0.09474	.	.	0.126345400529	0.12197	0.10973474977052637	0.10902	0.0430706364013	0.04641	0.271704554558	0.06365	T	0.001579	0.01021	T	-0.753001	0.00017	T	-0.841437	0.01077	T	0.00370525809031965	0.00039	T	0.582242	0.21111	T	0.02979545	0.02535	0.02422162	0.00439	0.02979545	0.02534	0.02422162	0.00439	-2.986	0.10031	T	0.14644804612351828	0.16893	0.084	0.09578	B	.	.	1.223444	0.16175	12.37	0.95593467345342686	0.27319	0.03491	0.08658	N	AEFBI	0.047998	0.08143	N	-0.912678579790807	0.10544	0.5043955	-0.863839787901048	0.12954	0.6694101	1.20029141449753E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	-0.596	0.11072	-0.023000	0.12403	-0.176000	0.11179	0.549000	0.26987	0.039000	0.20931	0.000000	0.08366	0.757000	0.36037	0.0:0.2836:0.3454:0.3711	4.032	0.09196	654	0.62520	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	886.33	33	chr1	118086984	.	C	T	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.11;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1072:.	18	0	1	0
chr1	119140608	119140608	A	C	exonic	WARS2	.	nonsynonymous SNV	WARS2:NM_001378228:exon1:c.T37G:p.W13G,WARS2:NM_001378229:exon1:c.T37G:p.W13G,WARS2:NM_001378231:exon1:c.T37G:p.W13G,WARS2:NM_015836:exon1:c.T37G:p.W13G,WARS2:NM_201263:exon1:c.T37G:p.W13G	.	423	1084	15	0	0	15	0.00687128	.	.	YES	434543	not_provided|Parkinsonism-dystonia_3,_childhood-onset|Inborn_genetic_diseases|WARS2-related_disorder|Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.00555365232878	0.0027	0.00199681	0.0034	0.0006	0.0044	0	0.0006	0.0044	0.0011	0.0034	0.0033441	517	154602	rs139548132	0.0036	0.0036	0.0036	0.0037	0.0078	0.0036	0.0035	0.0060	0.0054	0.0005	0.0042	0.0012	0	0.0009	0.0078	0.0040	0.0040	0.0037	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0044	0.0042	0.0023	0	0.0005	0.0068	0.0049	0.0047	0.0039	0.081	0.36113	T	0.016	0.60972	D	0.001	0.07471	B	0.001	0.04355	B	0.097744	0.20013	N	0.534882	0.96309	0.26039	N	2.14	0.59869	M	0.99	0.41750	T	-0.74	0.21860	N	0.427	0.46649	-1.0499	0.14425	T	0.028	0.12190	T	10	0.0043417513	0.00088	T	0.005554	0.14319	T	0.121	0.33580	.	.	0.251679625132	0.24793	0.6198794439575772	0.61920	0.740897167152	0.63259	0.338066577911	0.16147	T	0.114069	0.43160	T	-0.450553	0.01121	T	-0.417353	0.31380	T	0.0366873790085819	0.03100	T	0.632737	0.24712	T	0.1685499	0.37319	0.098846555	0.23579	0.07218971	0.16040	0.108971946	0.26256	-4.802	0.34615	T	.	.	0.109	0.21541	B	.;.	.;.	1.890003	0.24007	16.23	0.89472259208166782	0.18826	0.11826	0.16886	N	ALL	0.118447	0.23160	N	-0.553494044451047	0.20375	1.073573	-0.457345149565875	0.23340	1.272343	0.999999999999984	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	6.04	0.718	0.17356	-0.145000	0.10248	2.378000	0.32469	0.756000	0.94297	0.473000	0.26745	1.000000	0.68203	0.865000	0.41091	0.3592:0.1819:0.1071:0.3518	0.681	0.00819	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.002924	0.000000	0.000000	0.024390	0.003788	0.07895	3681.77	99	chr1	119140608	.	A	C	3681.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.973;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=-1.525;SOR=0.708	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1201	17	1	1	0
chr1	119383022	119383022	T	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_016527:exon3:c.T239A:p.F80Y,HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_001377472:exon4:c.T278A:p.F93Y	.	433	1055	32	2	0	36	0.0167754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0221846542679	0.0015	0.00119808	0.0023	0.0009	0.0026	0	0	0.0028	0.0036	0.0025	0.0020763	321	154602	rs41306185	0.0019	0.0019	0.0018	0.0020	0.0170	0.0018	0.0018	0.0143	0.0133	0.0006	0.0022	0.0010	0	0.0004	0.0170	0.0019	0.0025	0.0026	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0021	0.0019	0.0007	0	0.0018	0.0009	0	9.418e-05	0.0170	0.0024	0.0052	0.0021	0.013	0.53900	D	0.109	0.37449	T	0.186	0.29254	B	0.274	0.40037	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.28	0.32218	L	1.56	0.29602	T	-1.68	0.40082	N	0.66	0.71055	-1.0737	0.08619	T	0.046	0.19800	T	9	0.020435303	0.00471	T	0.022185	0.45053	T	0.174	0.44019	.	.	0.184867976434	0.18130	0.7442278364771182	0.74368	0.148931395982	0.16796	0.553254902363	0.46316	T	0.016884	0.39789	T	-0.371119	0.03538	T	-0.31079	0.43573	T	0.0347134229547542	0.02759	T	0.940406	0.77539	D	0.4336018	0.62987	0.30213737	0.56246	0.4336018	0.62988	0.30213737	0.56245	-4.546	0.31486	T	.	.	0.205	0.43032	B	.;.;.;.	.;.;.;.	3.012749	0.40293	21.1	0.98698266928499656	0.44866	0.98959	0.89186	D	AEFBI	0.970689	0.99290	D	0.044259173628731	0.43878	2.672305	0.151712515987709	0.47231	2.956636	0.99940961548204	0.39524	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	6.039000	0.52998	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.0:0.0:0.0:1.0	15.668	0.77002	770	0.49152	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.025253	0.020380	0.008772	0.000000	0.017241	0.024390	0.007576	0.05263	2211.83	33	chr1	119383022	.	T	A	2211.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.897;DP=765;ExcessHet=0.119;FS=0.598;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.42;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	2	0
chr1	119392173	119392173	G	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_001377472:exon6:c.G664A:p.G222R,HAO2:NM_016527:exon6:c.G835A:p.G279R,HAO2:NM_001005783:exon7:c.G874A:p.G292R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.239796496904	.	.	2.479e-05	0	0	0.0001	0	1.502e-05	0	6.072e-05	1.94e-05	3	154602	rs758234111	3.833e-05	3.831e-05	3.95e-05	3.715e-05	0.0007	3.027e-05	2.721e-05	0.0002	0.0001	0	2.237e-05	0	0	0	0.0007	4.049e-05	3.314e-05	4.641e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	9.657e-05	8.15e-06	5.14e-06	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.675	0.99424	H	-0.84	0.74265	T	-7.69	0.95603	D	0.993	0.99995	0.800	0.94405	D	0.768	0.92111	D	9	0.9927337	0.99809	D	0.239796	0.88646	D	0.756	0.91668	0.979	0.99802	0.94958034063	0.94905	0.9367399852148666	0.93653	0.218347295172	0.24371	0.602894961834	0.53313	T	0.492541	0.81646	T	0.275718	0.80946	D	0.339801	0.89907	D	0.998382210731506	0.93999	D	0.99598	0.98615	D	0.9567155	0.96947	0.94879633	0.98326	0.9567155	0.96948	0.94879633	0.98327	-12.001	0.84856	D	.	.	0.889	0.82060	P	.;.;.	.;.;.	5.629666	0.92664	32	0.99937202081463028	0.99661	0.99011	0.89930	D	AEFBI	0.976065	0.99653	D	1.09164306720376	0.97976	17.15409	0.989132772233748	0.98406	18.19135	0.99999997326207	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	9.447000	0.96759	11.599000	0.93462	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.659	0.99629	772	0.48957	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	34	chr1	119392173	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.117;DP=735;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.406;SOR=0.604	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1115,0,1662	18	0	1	0
chr1	119511553	119511553	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon3:c.G196A:p.E66K,HSD3B1:NM_001328615:exon3:c.G196A:p.E66K	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0196524584189	.	0.00139776	0.0008	9.614e-05	8.688e-05	0	0	0	0	0.0059	0.000718	111	154602	rs587718863	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	2.988e-05	0	0	0	0	0	3.598e-06	0.0003	0.0063	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	4.814e-05	0	0	0	0	0	0	0	0	0.0054	0.492	0.07944	T	0.654	0.06643	T	0.164	0.28467	B	0.065	0.27321	B	0.636861	0.10635	N	0.828126	0.999999	0.08975	N	0.925	0.23481	L	-1.69	0.82985	D	-1.31	0.32791	N	0.171	0.18239	-0.9388	0.42806	T	0.151	0.47944	T	10	0.0050863326	0.00110	T	0.019652	0.42067	T	0.270	0.58507	.	.	0.63472681612	0.63173	0.21946291698657927	0.21862	0.0280664298658	0.02883	0.283091783524	0.07927	T	0.297519	0.67011	T	-0.347897	0.04861	T	-0.269894	0.47829	T	0.00826839293798952	0.00099	T	0.650035	0.32403	T	0.07125189	0.15760	0.050600074	0.07975	0.07125189	0.15759	0.050600074	0.07974	-3.199	0.12468	T	.	.	0.071	0.03925	B	.;.;.	.;.;.	0.728088	0.10974	7.636	0.56482400037645808	0.05562	0.06393	0.12395	N	AEFGI	0.074905	0.15026	N	-0.901310232663457	0.10811	0.5185199	-0.915459886229663	0.11730	0.5993437	0.00273896774019493	0.09669	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.27	1.2	0.20181	0.009000	0.13117	-0.056000	0.12484	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.879000	0.42020	0.2438:0.1946:0.5616:0.0	4.091	0.09443	633	0.64743	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000574	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	1908.33	34	chr1	119511553	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.656;DP=824;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.839;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1367	18	0	1	0
chr1	119514359	119514359	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon4:c.G836A:p.R279H,HSD3B1:NM_001328615:exon4:c.G836A:p.R279H	.	0	1500	1	0	21	22	0.000333222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0138853439636	0.0008	0.000798722	0.0015	0.0003	0.0014	0	0.0002	0.0014	0.0022	0.0039	0.0013325	206	154602	rs144711345	0.0009	0.0009	0.0008	0.0010	0.0047	0.0009	0.0009	0.0033	0.0032	0.0002	0.0015	0.0028	0	5.616e-05	0.0047	0.0007	0.0014	0.0037	0.0011	0.0011	0.0010	0.0012	0.0035	0.0009	0.0009	0.0022	0.0018	0.0006	0	0.0025	0.0035	0	9.425e-05	0.0068	0.0010	0.0019	0.0035	0.497	0.07821	T	0.296	0.20615	T	0.002	0.09854	B	0.004	0.10090	B	0.570158	0.11246	N	0.826084	0.999999	0.08975	N	1.805	0.47535	L	-2.38	0.88298	D	-1.05	0.27463	N	0.05	0.02179	-0.7049	0.60203	T	0.331	0.69860	T	10	0.00701949	0.00160	T	0.013885	0.33612	T	0.175	0.44197	.	.	0.575045364607	0.57173	0.2424975473099069	0.24163	0.0294092290554	0.03026	0.184644564986	0.00144	T	0.460938	0.79791	T	-0.49525	0.00608	T	-0.484689	0.23949	T	0.00835563811659382	0.00101	T	0.189081	0.01998	T	0.033841386	0.03683	0.027723305	0.00946	0.033841386	0.03683	0.027723305	0.00946	-2.785	0.08046	T	.	.	0.079	0.07272	B	.;.	.;.	0.070102	0.04788	1.401	0.38819267600058671	0.02641	0.06738	0.12760	N	AEFBI	0.108253	0.21541	N	-1.14973415321105	0.05784	0.2645855	-1.24184497062397	0.05253	0.2498497	1.32551340192565E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.26	-1.12	0.09306	0.555000	0.23129	-3.092000	0.03068	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3148:0.1618:0.5234:0.0	4.922	0.13225	631	0.64944	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004228	0.005051	0.004076	0.000000	0.000000	0.000000	0.018293	0.003788	0.02632	3763.33	34	chr1	119514359	.	G	A	3763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.913;DP=1025;ExcessHet=0;FS=3.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.181;SOR=0.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1340	18	0	1	0
chr1	119896204	119896204	T	C	exonic	ADAM30	.	nonsynonymous SNV	ADAM30:NM_021794:exon1:c.A133G:p.I45V	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0077	0.00339457	0.0077	0.0013	0.0092	0	0.0051	0.0113	0.0100	0.0013	0.0075808	1172	154602	rs41276636	0.0093	0.0093	0.0094	0.0091	0.0276	0.0091	0.0091	0.0241	0.0227	0.0018	0.0084	0.0065	0	0.0069	0.0276	0.0105	0.0095	0.0017	0.0069	0.0069	0.0071	0.0067	0.0105	0.0066	0.0064	0.0099	0.0096	0.0022	0.0055	0.0082	0.0046	0	0.0072	0.0204	0.0105	0.0071	0.0008	0.108	0.29420	T	0.416	0.14284	T	0.03	0.20002	B	0.118	0.32088	B	0.020639	0.26999	N	0.174153	1	0.08975	N	1.715	0.44382	L	3.29	0.06445	T	-0.57	0.17210	N	0.078	0.05287	-0.9430	0.42137	T	0.006	0.02055	T	10	0.009279966	0.00210	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.2646337002607105	0.26376	0.0985929584545	0.11141	0.307027518749	0.11458	T	0.019023	0.15229	T	-0.699267	0.00037	T	-0.764251	0.02962	T	0.00330747424112044	0.00035	T	0.428457	0.11587	T	0.048251387	0.08380	0.08230745	0.18774	0.048251387	0.08379	0.08230745	0.18773	-3.643	0.18481	T	.	.	0.084	0.09772	B	.	.	0.420978	0.07917	4.622	0.54091860532895053	0.05069	0.13818	0.18068	N	AEFDBCI	0.053553	0.09658	N	-1.0001240393164	0.08602	0.4039119	-1.010777633341	0.09547	0.4756418	0.999335932626452	0.39185	0.59774	0.34471	0	0.563428	0.19063	0	0.600433	0.31921	0	0.63947	0.58350	0	.	.	4.75	2.42	0.28720	0.167000	0.16419	-0.350000	0.09751	-0.204000	0.08590	0.004000	0.16614	0.000000	0.08366	0.018000	0.11154	0.0:0.1942:0.0:0.8058	6.497	0.21343	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.045455	0.027174	0.032164	0.000000	0.034483	0.018293	0.007576	0.02632	1663.33	33	chr1	119896204	.	T	C	1663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.098;DP=799;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.55;SOR=0.897	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1273	18	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	5	1401	110	6	0	122	0.0417237	.	.	.	138711	Hajdu-Cheney_syndrome|not_specified|not_provided	MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019348	0.005155	0.009511	0.011834	0.000000	0.034483	0.050314	0.026718	0.05263	1840.83	33	chr1	119926524	.	T	C	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.794;DP=794;ExcessHet=0.119;FS=1.865;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.194;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,42:90:99:948,0,1054	17	0	2	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K,NOTCH2:NM_024408:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	138707	not_provided|Hajdu-Cheney_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1655.33	35	chr1	119967490	.	G	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.396;DP=754;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.831;SOR=0.55	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr1	120449241	120449241	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.C827T:p.A276V	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782789067	0.0006	0.0022	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	6.761e-05	0.0002	0	3.756e-05	0.0005	0.0008	0.0004	0.0002	9.259e-05	0.0006	0.0001	8.128e-05	0.0004	5.562e-05	4.392e-05	7.395e-05	5.118e-05	2.425e-05	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	143.83	116	chr1	120449241	.	C	T	143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.631;DP=1893;ExcessHet=0.119;FS=5.409;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.23;MQRankSum=-0.11;QD=0.24;ReadPosRankSum=1.72;SOR=0.607	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	17	0	2	0
chr1	120449302	120449302	C	-	exonic	NBPF8	.	frameshift deletion	NBPF8:NM_001037501:exon9:c.888delC:p.Q298Sfs*18	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319313670	0.0009	0.0012	0.0008	0.0010	0.0052	0.0009	0.0008	0.0039	0.0038	0.0002	0.0006	0.0025	2.519e-05	0	0.0052	0.0007	0.0010	0.0043	0.0008	0.0009	0.0007	0.0009	0.0062	0.0007	0.0006	0.0045	0.0039	0.0002	0	0.0010	0.0017	0	9.422e-05	0.0034	0.0009	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1064.29	526	chr1	120449301	.	AC	A	1064.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.55;DP=2591;ExcessHet=0;FS=3.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.93;MQRankSum=-2.475;QD=3.07;ReadPosRankSum=-1.338;SOR=0.925	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	18	0	1	0
chr1	120454027	120454027	A	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon13:c.A1498T:p.I500F	.	431	1076	14	1	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782470334	0.0023	0.0023	0.0022	0.0023	0.0094	0.0022	0.0022	0.0072	0.0065	0.0006	0.0009	0.0051	0	7.488e-05	0.0094	0.0025	0.0030	0.0011	0.0017	0.0018	0.0019	0.0016	0.0028	0.0016	0.0015	0.0024	0.0023	0.0004	0.0011	0.0018	0.0052	0	0	0.0069	0.0028	0.0033	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2077.33	37	chr1	120454027	.	A	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.75;MQRankSum=-2.662;QD=12.08;ReadPosRankSum=-0.674;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	0
chr1	120808561	120808561	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon3:c.G295A:p.V99I	.	589	931	1	1	0	3	0.00160858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320272877	0.0010	0.0010	0.0010	0.0010	0.0056	0.0010	0.0009	0.0034	0.0027	0.0002	0.0006	0.0079	0	6.134e-05	0.0056	0.0009	0.0015	0.0010	0.0008	0.0008	0.0010	0.0006	0.0010	0.0007	0.0006	0.0006	0.0005	0.0002	0	0.0005	0.0101	0	0	0.0038	0.0008	0.0018	0.0010	.	.	.	0.257	0.31427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.15469	.	.	.	.	.	.	.	0.014294565	0.00301	T	.	.	.	.	.	.	.	.	.	0.02280819320364746	0.02232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79512	0.43772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.39898	B	.;.;.;.;.	.;.;.;.;.	0.563386	0.09319	6.101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123000	0.15536	-0.365000	0.09647	0.242000	0.18252	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	.	.	.	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	634.72	38	chr1	120808561	.	G	A	634.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.496;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=41.34;MQRankSum=-2.358;QD=15.11;ReadPosRankSum=0.661;SOR=0.616	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	17	0	1	1
chr1	120816630	120816630	A	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1388C:p.Q463P	.	523	990	9	0	0	9	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00103900310276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782021014	0.0005	0.0050	0.0004	0.0006	0.0023	0.0004	0.0004	0.0020	0.0018	0.0022	0.0015	0.0001	0.0003	0.0006	0	0.0003	0.0004	0.0023	0.0012	0.0087	0.0010	0.0015	0.0019	0.0010	0.0010	0.0010	0.0009	0.0014	0	0.0009	0.0008	0.0019	0.0013	0	0.0013	0.0026	0	.	.	.	0.204	0.62352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.359	0.40063	-1.0422	0.16651	T	0.021	0.08778	T	9	0.09983155	0.18143	T	3.87E-4	0.00065	T	.	.	.	.	0.0297737177859	0.01360	0.22769245963978335	0.22684	.	.	.	.	.	.	.	.	-0.0299573	0.47423	T	-0.280808	0.46722	T	0.0504873322125521	0.05584	T	0.615438	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.23255	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.863480	0.12360	8.898	0.91136521014520167	0.20390	0.00796	0.03248	N	AEFBI	0.135307	0.25560	N	-0.744164548179835	0.14792	0.7398978	-0.942789091635799	0.11091	0.5629054	0.0177842938130526	0.12989	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.811	0.811	0.17881	0.559000	0.23190	-4.145000	0.02317	0.101000	0.17621	0.150000	0.23655	0.000000	0.08366	0.433000	0.27516	1.0:0.0:0.0:0.0	3.935	0.08801	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	92.54	34	chr1	120816630	.	A	C	92.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.419;DP=507;ExcessHet=0.3892;FS=64.783;InbreedingCoeff=-0.1259;MLEAC=3;MLEAF=0.088;MQ=33.23;MQRankSum=-2.237;QD=1.71;ReadPosRankSum=1.75;SOR=4.97	GT:AD:DP:GQ:PL	0/0:27,0:27:25:0,25,955	14	0	3	2
chr1	120830484	120830484	C	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon20:c.C2597T:p.S866L	.	804	706	12	0	0	12	0.00842697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268864713	0.0018	0.0032	0.0019	0.0018	0.0020	0.0017	0.0017	0.0019	0.0018	0.0007	0.0004	0.0021	0	0.0042	0.0012	0.0020	0.0016	0.0016	0.0020	0.0032	0.0017	0.0024	0.0043	0.0018	0.0017	0.0024	0.0018	0.0008	0.0017	0.0009	0.0016	0	0.0066	0	0.0021	0.0022	0.0043	.	.	.	0.285	0.31427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.165	0.17416	-1.0502	0.14341	T	0.010	0.03582	T	9	0.02374658	0.00631	T	0.001392	0.02037	T	.	.	.	.	0.185906805712	0.18197	0.008888954867445117	0.00851	.	.	.	.	.	.	.	.	-0.345525	0.05015	T	-0.734099	0.04145	T	0.1366984648069	0.15988	T	0.830817	0.54490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.058936	0.04704	1.342	0.24533630855159475	0.01089	0.00012	0.00170	N	AEFI	0.029886	0.02902	N	-0.81487840899404	0.12930	0.6335323	-1.12121065501673	0.07296	0.3543358	0.00728602839773751	0.11429	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.14	-2.28	0.06438	-2.140000	0.01387	-5.240000	0.01793	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2612:0.2911:0.4477	2.403	0.04138	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	40.72	35	chr1	120830484	.	C	T	40.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.804;DP=533;ExcessHet=0;FS=0;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.028;MQ=32.69;MQRankSum=0.122;QD=1.23;ReadPosRankSum=0.304;SOR=0.507	GT:AD:DP:GQ:PL	0/0:39,0:39:81:0,81,1215	17	0	1	1
chr1	120890245	120890245	T	C	exonic	PPIAL4A	.	nonsynonymous SNV	PPIAL4A:NM_001143883:exon1:c.T425C:p.M142T	.	472	1025	22	3	0	28	0.0134745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.00126325255168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386502682	4.894e-05	0.0006	1.5e-05	8.314e-05	0.0002	3.935e-05	3.585e-05	4.014e-05	3.582e-05	0	4.791e-05	0	0	7.641e-05	0.0002	5.096e-05	0	8.718e-05	7.958e-05	0.0003	6.832e-05	9.165e-05	0.0001	4.135e-05	3.003e-05	6.943e-05	5.061e-05	4.418e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.5466494	0.64021	D	.	.	.	.	.	.	.	.	.	0.5366552024640897	0.53590	.	.	.	.	.	0.042551	0.26220	T	.	.	.	.	.	.	.	.	.	0.340966	0.07383	T	.	.	.	.	.	.	.	.	-7.814	0.59795	D	.	.	0.181	0.39339	B	.	.	2.101660	0.26743	17.22	.	.	.	.	.	.	0.313368	0.41854	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.619000	0.67408	0.624000	0.20160	0.390000	0.20482	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	.	.	.	964	0.07719	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	173.92	36	chr1	120890245	.	T	C	173.92	.	AC=2;AF=0.053;AN=38;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=0.9958;MLEAC=2;MLEAF=0.053;MQ=24;QD=24.85;SOR=4.174	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr1	121382843	121382843	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon8:c.A971G:p.D324G,SRGAP2C:NM_001329984:exon8:c.A974G:p.D325G	.	683	837	2	0	0	2	0.00119332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.964e-06	1.59e-06	0	3.664e-06	0.0004	0	0	.	.	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92317	.	.	.	.	.	.	.	0.8682883	0.86083	D	.	.	.	.	.	.	.	0.173771789658	0.16945	0.8009779252245498	0.80051	.	.	.	.	.	0.426986	0.77661	T	0.532045	0.95201	D	0.526469	0.95130	D	.	.	.	0.999138	0.99663	D	0.20690127	0.42880	0.46359885	0.68862	0.20690127	0.42880	0.46359885	0.68862	-11.267	0.81102	D	.	.	0.867	0.80729	P	.;.	.;.	5.173476	0.86723	29.0	0.92405727635104196	0.21819	0.95933	0.66783	D	AEFI	.	.	.	.	.	.	.	.	.	0.0403644257333553	0.14436	0.322412	0.05557	0	0.31918	0.05746	0	0.331037	0.05861	0	0.370666	0.05837	0	0.777903	0.46011	2.33	2.33	0.27981	9.118000	0.93675	11.279000	0.91668	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	8.239	0.30805	976	0.04745	F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	319.98	2	chr1	121382843	.	A	G	319.98	.	AC=2;AF=0.053;AN=38;DP=336;ExcessHet=0;FS=0;InbreedingCoeff=0.6273;MLEAC=2;MLEAF=0.053;MQ=36.33;QD=26.66;SOR=1.445	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	18	1	0	0
chr1	121387677	121387677	T	C	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon10:c.T1199C:p.I400T,SRGAP2C:NM_001329984:exon10:c.T1202C:p.I401T	.	525	995	1	1	0	3	0.00150527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0	0	0	0.0007	0	0.0002	0.0001537	4	26028	rs1419689809	0.0002	0.0002	0.0001	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	2.983e-05	5.57e-05	0	0	0	0.0002	0.0003	0.0004	8.576e-05	0.0001	5.963e-05	0.0001	0.0002	4.792e-05	3.653e-05	8.905e-05	6.746e-05	3.017e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.1619198	0.30360	T	.	.	.	.	.	.	.	0.199424873507	0.19547	0.2288266420381814	0.22797	.	.	.	.	.	0.040665	0.25602	T	0.0760583	0.61577	D	-0.128524	0.61096	T	.	.	.	0.962304	0.85835	D	0.06623968	0.14232	0.28516033	0.54517	0.06623968	0.14232	0.28516033	0.54516	-6.782	0.52425	T	.	.	0.188	0.40441	B	.;.	.;.	4.284830	0.65301	24.8	0.91068866522520853	0.20321	0.93240	0.57691	D	AEFI	.	.	.	.	.	.	.	.	.	0.00758363429073373	0.11500	0.262962	0.04601	0	0.304816	0.05638	0	0.292756	0.05521	0	0.330827	0.05736	0	0.680728	0.42406	2.48	2.48	0.29194	7.845000	0.85166	7.924000	0.74674	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	8.506	0.32347	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	202.4	17	chr1	121387677	.	T	C	202.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=222;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=26.3;MQRankSum=0.464;QD=18.4;ReadPosRankSum=-0.285;SOR=2.093	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,163	18	0	1	0
chr1	121387771	121387771	C	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon10:c.C1293G:p.S431R,SRGAP2C:NM_001329984:exon10:c.C1296G:p.S432R	.	438	1080	3	1	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0021	0	0	0.0011	0	0.0020	.	.	.	rs1443626369	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	7.101e-05	4.854e-05	0	1.904e-05	0.0008	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0002	0.0003	0	0	0	0.0003	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.67822	.	.	.	.	.	.	.	0.0905309	0.15778	T	.	.	.	.	.	.	.	0.203808441222	0.19973	0.43492653277053134	0.43409	.	.	.	.	.	0.030889	0.21789	T	0.0571392	0.59253	T	-0.1557	0.58736	T	.	.	.	0.988801	0.96179	D	0.106369354	0.25150	0.26017722	0.51777	0.106369354	0.25150	0.26017722	0.51776	-9.371	0.70054	D	.	.	0.91	0.83446	P	.;.	.;.	3.639565	0.51593	23.1	0.85933968747431166	0.16205	0.88872	0.49013	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00107197558396987	0.08194	0.262962	0.04601	0	0.304816	0.05638	0	0.292756	0.05521	0	0.330827	0.05736	0	0.737487	0.44063	2.48	2.48	0.29194	4.023000	0.56921	2.760000	0.34598	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	10.717	0.45219	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	334.33	29	chr1	121387771	.	C	G	334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.19;MQRankSum=-0.671;QD=14.54;ReadPosRankSum=0.883;SOR=0.368	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,794	18	0	1	0
chr1	143905733	143905735	CTC	-	exonic	H3-2	.	nonframeshift deletion	H3-2:NM_001355409:exon1:c.232_234del:p.E78del,H3-2:NM_001372105:exon1:c.232_234del:p.E78del	.	51	1470	1	0	0	1	0.00034002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00259585	0.0010	0.0124	0.0003	0	0	0	0	6.243e-05	0.0009508	147	154602	rs587670188	0.0004	0.0004	0.0005	0.0003	0.0160	0.0004	0.0004	0.0149	0.0144	0.0160	0.0005	0	0	0	0.0005	5.51e-06	0.0007	0.0001	0.0040	0.0040	0.0046	0.0034	0.0139	0.0038	0.0037	0.0129	0.0126	0.0139	0	0.0013	0	0	0	0	4.539e-05	0.0020	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2937.29	33	chr1	143905732	.	ACTC	A	2937.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.41;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.96;MQRankSum=-10.26;QD=17.69;ReadPosRankSum=0.895;SOR=0.714	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr1	143973020	143973020	A	G	exonic	FAM72C	.	nonsynonymous SNV	FAM72C:NM_001346067:exon2:c.T92C:p.V31A	.	713	808	1	0	0	1	0.000618429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	144.39	38	chr1	143973020	.	A	G	144.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=541;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=24.03;MQRankSum=-0.569;QD=4.13;ReadPosRankSum=0.292;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	18	0	1	0
chr1	144424839	144424839	A	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon14:c.T1289C:p.V430A,NBPF15:NM_001385417:exon15:c.T1514C:p.V505A,NBPF15:NM_001385446:exon15:c.T1289C:p.V430A,NBPF15:NM_001385405:exon16:c.T1514C:p.V505A,NBPF15:NM_001385448:exon16:c.T1598C:p.V533A,NBPF15:NM_001385410:exon17:c.T1514C:p.V505A,NBPF15:NM_001385413:exon17:c.T1514C:p.V505A,NBPF15:NM_001385416:exon17:c.T1514C:p.V505A,NBPF15:NM_001385432:exon17:c.T1514C:p.V505A,NBPF15:NM_001385438:exon17:c.T1514C:p.V505A,NBPF15:NM_001385407:exon18:c.T1514C:p.V505A,NBPF15:NM_001385418:exon18:c.T1514C:p.V505A,NBPF15:NM_001385424:exon18:c.T1514C:p.V505A,NBPF15:NM_001385427:exon18:c.T1514C:p.V505A,NBPF15:NM_001385439:exon18:c.T1514C:p.V505A,NBPF15:NM_001385440:exon18:c.T1514C:p.V505A,NBPF15:NM_001385443:exon18:c.T1403C:p.V468A,NBPF15:NM_001385445:exon18:c.T1403C:p.V468A,NBPF15:NM_001385376:exon19:c.T1514C:p.V505A,NBPF15:NM_001385377:exon19:c.T1514C:p.V505A,NBPF15:NM_001385403:exon19:c.T1514C:p.V505A,NBPF15:NM_001385404:exon19:c.T1514C:p.V505A,NBPF15:NM_001385409:exon19:c.T1514C:p.V505A,NBPF15:NM_001385411:exon19:c.T1514C:p.V505A,NBPF15:NM_001385414:exon19:c.T1514C:p.V505A,NBPF15:NM_001385441:exon19:c.T1514C:p.V505A,NBPF15:NM_173638:exon19:c.T1514C:p.V505A,NBPF15:NM_001385373:exon20:c.T1514C:p.V505A,NBPF15:NM_001385374:exon20:c.T1514C:p.V505A,NBPF15:NM_001385375:exon20:c.T1514C:p.V505A,NBPF15:NM_001385408:exon20:c.T1514C:p.V505A,NBPF15:NM_001385412:exon20:c.T1514C:p.V505A,NBPF15:NM_001385415:exon20:c.T1514C:p.V505A,NBPF15:NM_001385420:exon20:c.T1514C:p.V505A,NBPF15:NM_001385423:exon20:c.T1514C:p.V505A,NBPF15:NM_001385430:exon20:c.T1514C:p.V505A,NBPF15:NM_001385431:exon20:c.T1514C:p.V505A,NBPF15:NM_001385433:exon20:c.T1514C:p.V505A,NBPF15:NM_001385434:exon20:c.T1514C:p.V505A,NBPF15:NM_001385436:exon20:c.T1514C:p.V505A,NBPF15:NM_001385442:exon20:c.T1403C:p.V468A,NBPF15:NM_001385444:exon20:c.T1403C:p.V468A,NBPF15:NM_001385378:exon21:c.T1514C:p.V505A,NBPF15:NM_001385406:exon21:c.T1514C:p.V505A,NBPF15:NM_001385419:exon21:c.T1514C:p.V505A,NBPF15:NM_001385421:exon21:c.T1514C:p.V505A,NBPF15:NM_001385422:exon21:c.T1514C:p.V505A,NBPF15:NM_001385425:exon21:c.T1514C:p.V505A,NBPF15:NM_001385428:exon21:c.T1514C:p.V505A,NBPF15:NM_001385429:exon21:c.T1514C:p.V505A,NBPF15:NM_001385435:exon21:c.T1514C:p.V505A,NBPF15:NM_001385437:exon21:c.T1514C:p.V505A,NBPF15:NM_001170755:exon22:c.T1514C:p.V505A,NBPF15:NM_001385426:exon22:c.T1514C:p.V505A	.	706	801	15	0	0	15	0.00927644	.	.	.	2196762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201924497	4.437e-06	6.836e-05	4.729e-06	4.18e-06	7.345e-06	7.4e-07	2.8e-07	1.22e-06	4.6e-07	0	0	0	0	0	0	7.345e-06	0	0	6.643e-05	0.0003	7.874e-05	5.271e-05	0.0003	3.252e-05	2.359e-05	4.43e-05	2.64e-05	0.0001	0	0	0	0.0003	0	0	3.48e-05	0	0.0003	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.33	0.06138	T	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.07025522	0.10194	T	.	.	.	.	.	.	.	.	.	0.004037460739125021	0.00378	.	.	.	.	.	0.014177	0.12117	T	.	.	.	.	.	.	.	.	.	0.458654	0.13238	T	.	.	.	.	.	.	.	.	-5.254	0.39486	T	.	.	0.127	0.26855	B	.;.;.	.;.;.	-0.015487	0.04177	1.009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212000	0.17289	-12.428000	0.00526	-0.558000	0.04865	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	38.63	4	chr1	144424839	.	A	G	38.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=121;ExcessHet=0;FS=0;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.026;MQ=34.79;MQRankSum=0.66;QD=3.51;ReadPosRankSum=2.36;SOR=1.371	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,195	18	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	159.83	76	chr1	144435839	.	C	G	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.51;DP=1342;ExcessHet=0.119;FS=4.349;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.08;MQRankSum=-2.82;QD=0.89;ReadPosRankSum=2.48;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	17	0	2	0
chr1	144914735	144914735	T	-	exonic	SRGAP2B	.	frameshift deletion	SRGAP2B:NM_001385228:exon4:c.173delA:p.Q58Rfs*6,SRGAP2B:NM_001271870:exon5:c.443delA:p.Q148Rfs*6,SRGAP2B:NM_001366280:exon5:c.443delA:p.Q148Rfs*6,SRGAP2B:NM_001385226:exon6:c.533delA:p.Q178Rfs*6	.	639	880	3	0	0	3	0.00170164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486906090	0.0001	9.223e-05	0.0001	0.0001	0.0015	8.28e-05	7.367e-05	0.0004	0.0002	8.12e-05	5.289e-05	0	0	2.319e-05	0.0015	0.0002	7.716e-05	0	4.348e-05	5.295e-05	4.184e-05	4.524e-05	9.533e-05	1.861e-05	1.225e-05	4.117e-05	2.742e-05	0	0	0	0	0	0	0	9.533e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	378.3	27	chr1	144914734	.	CT	C	378.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.548;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=24.39;MQRankSum=1.03;QD=12.2;ReadPosRankSum=-1.604;SOR=0.593	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,751	18	0	1	0
chr1	145292396	145292396	T	G	exonic	NBPF20	.	nonsynonymous SNV	NBPF20:NM_001278267:exon137:c.A15365C:p.N5122T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000832568993987	.	0.000199681	0.0006	0	0.0006	0.0037	0	0.0005	0.0038	0.0003	0.0001153	3	26028	rs587604193	0.0004	0.0005	0.0004	0.0004	0.0018	0.0003	0.0003	0.0014	0.0013	0.0004	0.0004	0	0.0018	2.943e-05	0	0.0003	0.0002	0.0006	0.0004	0.0005	0.0003	0.0004	0.0020	0.0003	0.0003	0.0011	0.0008	0.0005	0	0.0002	0	0.0020	0	0	0.0004	0.0005	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.30004	-1.1012	0.03949	T	0.031	0.13461	T	5	0.007727802	0.00175	T	7.74E-4	0.00568	T	.	.	.	.	0.0138822411134	0.00435	2.485671720627134E-5	0.00002	.	.	0.530503511429	0.43105	T	.	.	.	-0.206237	0.19911	T	-0.534022	0.18886	T	0.0487655988049819	0.05281	T	0.440256	0.45098	T	0.08721691	0.20301	0.17240854	0.39492	0.08721691	0.20301	0.17240854	0.39492	-9.262	0.69368	D	.	.	0.365	0.57554	A	.;.	.;.	0.796124	0.11666	8.250	0.92741266837111869	0.22245	0.00085	0.00571	N	AEFI	0.038342	0.05411	N	-0.643706638441732	0.17644	0.9096457	-0.951540724783552	0.10886	0.5512592	3.41888817781307E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.049000	0.11879	-3.583000	0.02678	-1.031000	0.01692	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	.	.	.	443	0.79878	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	39	chr1	145292396	.	T	G	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.91;MQRankSum=0.047;QD=3.18;ReadPosRankSum=0.975;SOR=0.61	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr1	145671257	145671257	A	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001371359:exon9:c.T1514C:p.I505T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	1.712e-05	1.906e-05	1.388e-05	2.088e-05	1.006e-05	8.23e-06	1.272e-05	1.04e-05	0	0	0	0	0	0	2.088e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	117.35	16	chr1	145671257	.	A	G	117.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=-0.0285;MLEAC=1;MLEAF=0.026;MQ=53.19;MQRankSum=-1.068;QD=14.67;ReadPosRankSum=1.72;SOR=1.981	GT:AD:DP:GQ:PL	0/0:15,0:15:36:0,36,540	18	0	1	0
chr1	145672876	145672876	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon6:c.G1027A:p.V343I,PDZK1:NM_001371361:exon7:c.G739A:p.V247I,PDZK1:NM_001201325:exon8:c.G1360A:p.V454I,PDZK1:NM_001371359:exon8:c.G1360A:p.V454I,PDZK1:NM_002614:exon9:c.G1360A:p.V454I	.	582	938	2	0	0	2	0.00106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0139066569148	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587664483	0.0001	0.0001	9.687e-05	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	0.0001	0	0	0	0.0005	0.0001	0.0003	0.0005	7.9e-05	7.877e-05	0.0001	5.386e-05	0.0006	4.505e-05	3.519e-05	0.0002	9.067e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.0	0.91255	D	0.023	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.87	0.24085	T	-0.92	0.24676	N	0.46	0.49692	.	.	.	.	.	.	.	0.38544378	0.54505	T	.	.	.	.	.	.	.	.	.	0.44939582753630164	0.44857	.	.	.	.	.	0.131515	0.46106	T	.	.	.	.	.	.	.	.	.	0.859214	0.70605	D	.	.	.	.	.	.	.	.	-6.798	0.52544	T	.	.	0.143	0.31482	B	.;.;.	.;.;.	3.692863	0.52622	23.3	.	.	.	.	.	.	0.943631	0.94973	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.230000	0.77568	7.704000	0.66446	0.304000	0.19002	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr1	145672876	.	C	T	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=710;ExcessHet=0;FS=1.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.97;MQRankSum=1.21;QD=15.04;ReadPosRankSum=-0.939;SOR=0.459	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	18	0	1	0
chr1	145686561	145686561	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G376A:p.G126S,PDZK1:NM_001201326:exon3:c.G376A:p.G126S,PDZK1:NM_001371359:exon3:c.G376A:p.G126S,PDZK1:NM_002614:exon4:c.G376A:p.G126S	.	473	1038	8	3	0	14	0.00669856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00496683770762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148919265	0.0075	0.0075	0.0076	0.0073	0.0088	0.0073	0.0073	0.0086	0.0086	0.0012	0.0021	0.0010	0	0.0023	0.0036	0.0088	0.0058	0.0054	0.0049	0.0049	0.0052	0.0045	0.0086	0.0046	0.0045	0.0081	0.0078	0.0016	0.0011	0.0024	0.0009	0	0.0016	0	0.0086	0.0043	0.0037	0.499	0.09458	T	0.623	0.07368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71	0.31205	T	-0.73	0.20576	N	0.154	0.15888	.	.	.	.	.	.	.	0.013003588	0.00277	T	.	.	.	.	.	.	.	.	.	0.7411778002221158	0.74063	.	.	.	.	.	0.112208	0.42830	T	.	.	.	.	.	.	.	.	.	0.780122	0.41468	T	.	.	.	.	.	.	.	.	-1.972	0.03343	T	.	.	0.076	0.06024	B	.;.;.;.	.;.;.;.	0.171449	0.05604	2.058	.	.	.	.	.	.	0.376490	0.46062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.379000	0.43973	2.230000	0.31524	0.310000	0.19122	0.019000	0.19563	0.010000	0.20010	0.105000	0.18517	.	.	.	272	0.89337	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1521.33	34	chr1	145686561	.	C	T	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.92;MQRankSum=1.04;QD=12.78;ReadPosRankSum=1.13;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr1	145686706	145686706	C	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G231C:p.K77N,PDZK1:NM_001201326:exon3:c.G231C:p.K77N,PDZK1:NM_001371359:exon3:c.G231C:p.K77N,PDZK1:NM_002614:exon4:c.G231C:p.K77N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781891849	1.007e-05	1.027e-05	8.594e-06	1.157e-05	0.0001	5.85e-06	4.57e-06	7.437e-05	5.71e-05	0	0	0	0	0	0	0	5.2e-05	0.0001	6.594e-06	6.569e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.092	0.31682	T	0.544	0.11041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.69	0.27032	T	-0.3	0.17834	N	0.156	0.19190	.	.	.	.	.	.	.	0.12111691	0.22954	T	.	.	.	.	.	.	.	.	.	0.8478006267087616	0.84741	.	.	.	.	.	0.070815	0.34053	T	.	.	.	.	.	.	.	.	.	0.785321	0.42297	T	.	.	.	.	.	.	.	.	-5.252	0.41284	T	.	.	0.179	0.39064	B	.;.;.;.	.;.;.;.	1.899527	0.24129	16.28	.	.	.	.	.	.	0.235025	0.35769	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.070000	0.11483	0.370000	0.17667	0.310000	0.19122	0.921000	0.31989	0.993000	0.31925	0.922000	0.45779	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	860.33	34	chr1	145686706	.	C	G	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.248;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.74;MQRankSum=1.58;QD=15.64;ReadPosRankSum=2.18;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr1	145847674	145847674	C	T	exonic	NUDT17	.	nonsynonymous SNV	NUDT17:NM_001012758:exon6:c.C686T:p.T229I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00612171487142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.172	0.30241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.56	0.37759	N	0.273	0.30914	.	.	.	.	.	.	.	0.18109113	0.33324	T	.	.	.	.	.	.	.	.	.	0.7452700834494392	0.74473	.	.	.	.	.	0.018784	0.15081	T	.	.	.	.	.	.	.	.	.	0.692831	0.30243	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.142	0.31151	B	.	.	1.813414	0.23047	15.86	.	.	.	.	.	.	0.280132	0.39403	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.014000	0.49278	0.937000	0.22823	-0.175000	0.10903	0.926000	0.32145	0.000000	0.08366	0.757000	0.36037	.	.	.	.	.	NUDIX hydrolase domain|Nudix motif 17 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	914.33	36	chr1	145847674	.	C	T	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.393;DP=755;ExcessHet=0;FS=2.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.209;SOR=0.432	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1251	18	0	1	0
chr1	145855775	145855775	G	T	exonic	PIAS3	.	nonsynonymous SNV	PIAS3:NM_006099:exon5:c.C630A:p.N210K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	0.41750	T	-3.77	0.71397	D	0.673	0.69474	.	.	.	.	.	.	.	0.43661094	0.57834	T	.	.	.	.	.	.	.	.	.	0.921395568751022	0.92115	.	.	.	.	.	0.299705	0.67222	T	.	.	.	.	.	.	.	.	.	0.968703	0.88660	D	.	.	.	.	.	.	.	.	-11.715	0.83436	D	.	.	0.964	0.92926	P	.;.;.	.;.;.	4.084567	0.60783	24.3	.	.	.	.	.	.	0.492659	0.52921	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855000	0.27459	6.293000	0.55401	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	.	.	.	.	.	PINIT domain|PINIT domain;PINIT domain|PINIT domain;PINIT domain|PINIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	753.33	33	chr1	145855775	.	G	T	753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=683;ExcessHet=0;FS=4.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.86;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:118,17:135:31:0|1:145872713_C_G:0,31,4425:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:118,17:135:31:0|1:145872713_C_G:0,31,4425:145872713	9	0	10	0
chr1	145873351	145873351	A	C	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.T1148G:p.V383G,ANKRD35:NM_144698:exon10:c.T1418G:p.V473G	.	424	1070	27	1	0	29	0.0133702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0014928455548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139983363	0.0008	0.0008	0.0007	0.0010	0.0057	0.0008	0.0008	0.0053	0.0051	8.961e-05	0.0011	0	0	0	0.0057	0.0005	0.0012	0.0057	0.0008	0.0008	0.0009	0.0008	0.0056	0.0007	0.0007	0.0040	0.0034	0.0001	0	0.0023	0	0	0	0.0136	0.0008	0.0009	0.0056	0.31	0.14017	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.23	0.66652	T	-1.76	0.41618	N	0.054	0.04072	.	.	.	.	.	.	.	0.027429044	0.00890	T	.	.	.	.	.	.	.	.	.	0.5662869157022375	0.56556	.	.	.	.	.	0.00733	0.06742	T	.	.	.	.	.	.	.	.	.	0.454355	0.12956	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.13080	B	.;.	.;.	0.601642	0.09701	6.471	.	.	.	.	.	.	0.067918	0.13374	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.119000	0.24226	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5596.83	35	chr1	145873351	.	A	C	5596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.546;DP=2374;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.27;SOR=0.775	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	17	0	2	0
chr1	145899064	145899064	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1675A:p.A559T,ITGA10:NM_001303040:exon14:c.G1711A:p.A571T,ITGA10:NM_003637:exon17:c.G2104A:p.A702T	.	423	1070	27	2	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00317430332807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35515885	0.0035	0.0035	0.0034	0.0036	0.0243	0.0034	0.0034	0.0210	0.0198	0.0045	0.0060	0.0215	5.038e-05	0.0011	0.0243	0.0031	0.0062	0.0011	0.0046	0.0047	0.0050	0.0042	0.0064	0.0044	0.0042	0.0054	0.0050	0.0044	0	0.0064	0.0242	0.0002	0.0011	0.0272	0.0043	0.0104	0.0006	0.074	0.34621	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.50192	T	-1.48	0.36189	N	0.137	0.14338	.	.	.	.	.	.	.	0.012380809	0.00266	T	.	.	.	.	.	.	.	.	.	0.9765553922096653	0.97645	.	.	.	.	.	0.056132	0.30201	T	.	.	.	.	.	.	.	.	.	0.875312	0.58632	D	.	.	.	.	.	.	.	.	-9.059	0.68121	D	.	.	0.141	0.30920	B	.;.	.;.	3.764463	0.54031	23.4	.	.	.	.	.	.	0.225467	0.34955	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.890000	0.48308	7.593000	0.61311	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.710000	0.34452	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3982.83	35	chr1	145899064	.	C	T	3982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.75;DP=1308;ExcessHet=0.119;FS=0.817;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.373;SOR=0.645	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	17	0	2	0
chr1	145994970	145994970	-	C	exonic	TXNIP	.	frameshift insertion	TXNIP:NM_001313972:exon3:c.367dupG:p.V123Gfs*8,TXNIP:NM_006472:exon4:c.532dupG:p.V178Gfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2412.29	36	chr1	145994970	.	A	AC	2412.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=846;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.096;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	18	0	1	0
chr1	146066551	146066551	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon86:c.G10648A:p.V3550M,NBPF10:NM_001302371:exon90:c.G11155A:p.V3719M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000522976793673	.	.	2.474e-05	0.0002	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs587745352	4.75e-05	5.182e-05	3.503e-05	5.92e-05	0.0004	3.292e-05	2.833e-05	0.0002	0.0001	0	0.0004	6.881e-05	0.0001	0	0	2.765e-05	3.255e-05	8.414e-05	6.837e-05	6.061e-05	9.075e-05	4.23e-05	0.0003	3.136e-05	2.222e-05	9.428e-05	5.023e-05	0.0001	0	0.0003	0	0.0002	0	0	0	0	0	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.24135	.	.	.	.	.	.	.	0.10643801	0.19723	T	.	.	.	.	.	.	.	.	.	0.0018046389822786893	0.00167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656934	0.26653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.45990	B	.;.	.;.	1.267083	0.16655	12.68	.	.	.	.	.	.	0.031536	0.03394	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.394000	0.02624	-10.492000	0.00695	-1.275000	0.01275	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	157.22	2	chr1	146066551	.	C	T	157.22	.	AC=2;AF=0.056;AN=36;DP=91;ExcessHet=0;FS=0;InbreedingCoeff=0.5267;MLEAC=1;MLEAF=0.028;MQ=37.18;QD=27.43;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,103:.	17	1	0	1
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K,NBPF10:NM_001302371:exon89:c.G11089A:p.E3697K	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.089744	0.045455	0.224138	0.100000	0.000000	0.000000	0.076923	0.033333	0.05263	249.86	33	chr1	146067235	.	C	T	249.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.758;DP=520;ExcessHet=0.119;FS=3.623;InbreedingCoeff=-0.0566;MLEAC=2;MLEAF=0.053;MQ=41.8;MQRankSum=-3.791;QD=2.91;ReadPosRankSum=0.737;SOR=0.339	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,389	17	0	2	0
chr1	146067279	146067279	T	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.A10538G:p.K3513R,NBPF10:NM_001302371:exon89:c.A11045G:p.K3682R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000154795594138	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs587646237	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0005	0.0007	0.0007	0	0.0005	0	0	7.262e-05	0.0015	0.0008	0.0010	3.694e-05	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.23506	.	.	.	.	.	.	.	0.10539436	0.19478	T	.	.	.	.	.	.	.	.	.	0.0029646558413299207	0.00276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785921	0.53551	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.37783	B	.;.	.;.	1.076020	0.14584	11.15	.	.	.	.	.	.	0.036342	0.04828	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-0.469000	0.08990	.	.	0.059000	0.21734	0.000000	0.08366	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	259.33	35	chr1	146067279	.	T	C	259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.207;DP=377;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=38.38;MQRankSum=-0.156;QD=8.64;ReadPosRankSum=0.237;SOR=1.65	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,745	18	0	1	0
chr1	146114488	146114488	-	GTCTTC	exonic	NBPF10	.	nonframeshift insertion	NBPF10:NM_001039703:exon29:c.3747_3748insGAAGAC:p.D1249_Q1250insED,NBPF10:NM_001302371:exon29:c.3747_3748insGAAGAC:p.D1249_Q1250insED	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204907619	0.0026	0.0017	0.0029	0.0023	0.0046	0.0023	0.0022	0.0030	0.0028	0.0029	0.0046	0	0	0.0004	0	0.0035	0.0030	0.0003	0.0015	0.0034	0.0028	0	0.0027	0.0003	0.0001	.	.	0.0015	.	0	0	0	0	0	0.0027	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	82.59	1	chr1	146114488	.	G	GGTCTTC	82.59	.	AC=2;AF=0.111;AN=18;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.167;MQ=21;QD=32.46;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	8	1	0	10
chr1	146114506	146114506	C	G	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon29:c.G3730C:p.E1244Q,NBPF10:NM_001302371:exon29:c.G3730C:p.E1244Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229394566	0.0026	0.0016	0.0029	0.0023	0.0039	0.0023	0.0022	0.0026	0.0024	0.0030	0.0039	0.0042	0.0020	0.0004	0	0.0030	0.0034	0.0007	0.0019	0.0041	0.0035	0	0.0038	0.0005	0.0003	0.0010	0.0006	0.0038	0	0	0	0	0	0	0	0	0	.	.	.	0.56	0.09113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.088457644	0.15232	T	.	.	.	.	.	.	.	.	.	0.0025566889453544146	0.00237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631037	0.24617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14431	B	.	.	-0.165060	0.03273	0.559	.	.	.	.	.	.	0.029905	0.02908	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069000	0.14419	-2.483000	0.03699	-1.662000	0.00812	0.348000	0.25742	0.000000	0.08366	0.148000	0.20235	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	44.27	2	chr1	146114506	.	C	G	44.27	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=21;QD=22.13;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	7	1	0	11
chr1	146144609	146144609	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon1:c.G161A:p.R54Q,NBPF10:NM_001302371:exon1:c.G161A:p.R54Q	.	575	946	1	0	0	1	0.000528262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000203946063937	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs7526045	8.12e-05	0.0003	8.523e-05	7.721e-05	0.0002	6.718e-05	6.218e-05	6.796e-05	4.919e-05	0.0001	0.0002	0	0.0001	0.0002	0	6.349e-05	0.0002	0.0001	0.0002	0.0003	0.0001	0.0002	0.0014	0.0001	8.844e-05	0.0007	0.0005	0	0	0.0014	0	0.0013	0	0	2.54e-05	0	0	.	.	.	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.31	0.02412	T	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.04268834	0.03041	T	.	.	.	.	.	.	.	.	.	0.45959924141430397	0.45877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365463	0.08501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05935	B	.	.	-0.723973	0.01266	0.066	.	.	.	.	.	.	0.013733	0.00193	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.255000	0.08789	-1.122000	0.06265	-1.901000	0.00524	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	234.72	36	chr1	146144609	.	C	T	234.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.25;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=36.81;MQRankSum=-5.15;QD=3.5;ReadPosRankSum=1.75;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1355	17	0	1	1
chr1	146960159	146960159	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon7:c.G16A:p.G6S	.	534	986	2	0	0	2	0.00101317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.000998403	0.0045	0.0263	0	0	.	0	.	0	4.53e-05	7	154602	rs1459094829	0.0008	0.0007	0.0009	0.0006	0.0177	0.0007	0.0007	0.0159	0.0152	0.0177	0.0017	0	9.1e-05	0	0	0.0001	0.0014	0.0003	0.0040	0.0052	0.0042	0.0038	0.0153	0.0037	0.0036	0.0141	0.0136	0.0153	0	0.0015	0	0	0	0.0040	3.627e-05	0.0029	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	.	.	.	0.103	0.09349	-1.0421	0.16681	T	0.007	0.02282	T	7	0.004481137	0.00092	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.005002410895003491	0.00472	.	.	.	.	.	0.023846	0.18130	T	-0.277861	0.10896	T	-0.636905	0.09896	T	0.00746261219760872	0.00086	T	0.424958	0.30971	T	0.017859181	0.00310	0.052786004	0.08764	0.017859181	0.00310	0.052786004	0.08764	-8.584	0.64983	D	.	.	0.176	0.41141	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.530139	0.08986	5.770	0.89464374928784007	0.18819	0.00057	0.00426	N	AEFI	0.017836	0.00496	N	-1.4012398516331	0.02628	0.1163216	-1.68702360890539	0.01195	0.05382619	0.00290496246051793	0.09788	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	1.46	-2.92	0.05277	-1.479000	0.02432	-20.000000	0.00162	-1.667000	0.00805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4993:0.3018:0.1989:0.0	4.904	0.13146	767	0.49651	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	574.33	27	chr1	146960159	.	G	A	574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.62;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.16;MQRankSum=0.619;QD=14.01;ReadPosRankSum=1.6;SOR=0.563	GT:AD:DP:GQ:PL	0/0:23,0:23:66:0,66,921	18	0	1	0
chr1	146971253	146971253	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon16:c.A1450G:p.N484D	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000692895165646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.122e-05	2.121e-05	1.362e-05	2.889e-05	0.0003	1.521e-05	1.325e-05	0.0002	0.0002	0	0	0	0	0	0	8.995e-07	1.657e-05	0.0003	1.324e-05	1.315e-05	0	2.713e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.478	0.13752	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.10769	-0.9301	0.44124	T	0.007	0.02558	T	6	0.08695832	0.14832	T	6.93E-4	0.00418	T	.	.	.	.	0.0806252709748	0.07271	0.00844343436048817	0.00808	.	.	.	.	.	.	.	.	-0.205991	0.19948	T	-0.533668	0.18923	T	0.266589339303068	0.23601	T	0.926707	0.76748	D	0.06427372	0.13619	0.086128145	0.19933	0.06427372	0.13618	0.086128145	0.19932	-8.757	0.66119	D	.	.	0.173	0.42592	B	.;.;.;.	.;.;.;.	0.133291	0.05285	1.781	0.97949915567997736	0.37093	0.00303	0.01611	N	AEFI	0.042600	0.06630	N	-0.780431103424576	0.13820	0.6836666	-1.01920739281811	0.09363	0.4653933	1.10814145982141E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.971	-0.307	0.12143	0.110000	0.15273	-8.449000	0.00968	0.203000	0.17936	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.7097:0.0:0.2903:0.0	3.037	0.05757	732	0.54084	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3529.33	40	chr1	146971253	.	A	G	3529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.273;DP=886;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=1.08;QD=16.97;ReadPosRankSum=-0.514;SOR=0.421	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr1	146972895	146972895	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.G1736A:p.S579N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000566841999502	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1251011437	4.396e-06	5.86e-06	6.902e-06	2.104e-06	6.57e-06	1.03e-06	6.9e-07	1.54e-06	1.04e-06	0	0	0	0	0	0	6.57e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.03663	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9508	0.40833	T	0.001	0.00378	T	6	0.06256512	0.08018	T	5.67E-4	0.00233	T	.	.	.	.	0.0297737177859	0.01360	0.003761778400204054	0.00352	.	.	.	.	.	.	.	.	-0.287557	0.09883	T	-0.650832	0.08895	T	0.0340872348739338	0.02652	T	0.545245	0.19167	T	0.033796903	0.03668	0.06535449	0.13232	0.033796903	0.03668	0.06535449	0.13232	-2.832	0.08482	T	.	.	0.063	0.02313	B	.;.;.;.;.	.;.;.;.;.	-0.400792	0.02210	0.221	0.20338680044557728	0.00727	0.00007	0.00120	N	AEFI	0.018114	0.00525	N	-1.38857650796587	0.02744	0.1216203	-1.58969178076299	0.01718	0.07808138	1.60674946585295E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.962	-0.551	0.11230	-0.816000	0.04583	-0.202000	0.10935	-2.362000	0.00305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4429:0.3173:0.2398:0.0	2.221	0.03729	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2793.33	41	chr1	146972895	.	G	A	2793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.285;DP=1888;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.79;MQRankSum=1.01;QD=14.55;ReadPosRankSum=0.884;SOR=0.489	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	18	0	1	0
chr1	146985717	146985717	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon26:c.A2852G:p.Y951C	.	471	1032	19	0	0	19	0.00912146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000163214244258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431147745	0.0012	0.0035	0.0010	0.0014	0.0029	0.0011	0.0011	0.0023	0.0020	0.0029	0.0011	0.0033	0	0.0011	0.0020	0.0010	0.0010	0.0021	0.0002	0.0015	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0.0002	0	0.0001	0	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.169	0.18649	-0.9519	0.40643	T	0.009	0.03183	T	4	0.08142331	0.13327	T	5.1E-4	0.00163	T	.	.	.	.	0.0716867268079	0.06686	0.00371447489682259	0.00347	.	.	.	.	.	.	.	.	-0.200108	0.20788	T	-0.525218	0.19768	T	0.0803811617759508	0.10036	T	0.957404	0.85901	D	0.08617099	0.20018	0.18917689	0.42250	0.08617099	0.20017	0.18917689	0.42249	-7.722	0.59161	D	.	.	0.376	0.60603	A	.;.;.;.;.	.;.;.;.;.	0.435955	0.08064	4.786	0.32174284863828506	0.01851	0.00255	0.01401	N	AEFI	0.031340	0.03327	N	-0.936343263324024	0.10001	0.4759034	-1.1901068516727	0.06074	0.2912888	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.562000	0.02260	-3.618000	0.02653	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	759	0.50631	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	45.33	53	chr1	146985717	.	A	G	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1208;ExcessHet=0;FS=17.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.69;MQRankSum=-1.785;QD=0.86;ReadPosRankSum=0.509;SOR=4.155	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr1	146987977	146987977	T	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon29:c.T3140C:p.V1047A	.	585	925	12	0	0	12	0.00644468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000292727078143	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201670582	0.0006	0.0047	0.0005	0.0007	0.0016	0.0005	0.0005	0.0012	0.0011	0.0007	0.0016	0.0008	0.0001	0.0017	0	0.0004	0.0007	0.0008	3.414e-05	0.0002	3.99e-05	2.806e-05	0.0002	1.298e-05	8.25e-06	8.44e-06	3.16e-06	5.094e-05	0	6.872e-05	0	0.0002	9.944e-05	0	0	0	0	.	.	.	1.0	0.33442	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.02759	-0.9272	0.44545	T	0.002	0.00707	T	5	0.03807187	0.02202	T	2.93E-4	0.00021	T	.	.	.	.	0.0297737177859	0.01360	0.005606807826563626	0.00530	.	.	.	.	.	0.012892	0.11252	T	-0.3762	0.03292	T	-0.778161	0.02510	T	0.102979525331736	0.12682	T	0.430157	0.21304	T	0.037774272	0.04907	0.100568555	0.24050	0.037774272	0.04906	0.100568555	0.24050	-9.292	0.69557	D	.	.	0.105	0.30502	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.755983	0.01197	0.059	0.15084805958000494	0.00356	0.00021	0.00226	N	AEFI	0.020281	0.00785	N	-1.83444603345663	0.00466	0.02006262	-2.06996451119044	0.00217	0.009541837	6.10642097802735E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.572	-1.14	0.09241	-1.771000	0.01887	-20.000000	0.00162	-0.536000	0.04945	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1538	187.94	13	chr1	146987977	.	T	C	187.94	.	AC=4;AF=0.154;AN=26;BaseQRankSum=2.87;DP=400;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.0907;MLEAC=4;MLEAF=0.154;MQ=34.78;MQRankSum=0.157;QD=4.95;ReadPosRankSum=-0.534;SOR=0.765	GT:AD:DP:GQ:PL	./.:10,0:10:0:0,0,207	10	1	2	6
chr1	146992728	146992728	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon35:c.C3865G:p.L1289V	.	479	1034	9	0	0	9	0.00433317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000159896709696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409621751	0.0005	0.0006	0.0005	0.0005	0.0036	0.0004	0.0004	0.0018	0.0013	0.0003	0.0003	0.0006	6.099e-05	2.497e-05	0.0036	0.0005	0.0005	0.0008	0.0003	0.0004	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	4.91e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0	0.0006	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	-0.9698	0.37242	T	0.007	0.02244	T	6	0.044184864	0.03347	T	2.05E-4	0.00004	T	.	.	.	.	0.0401082797425	0.02173	0.001112823523945474	0.00102	.	.	.	.	.	.	.	.	-0.221868	0.17740	T	-0.556475	0.16710	T	0.0235022489918267	0.01083	T	0.660434	0.28057	T	0.026182279	0.01644	0.06269495	0.12305	0.026182279	0.01644	0.06269495	0.12305	-9.76	0.72462	D	.	.	0.206	0.43158	B	.;.;.	.;.;.	-0.322806	0.02520	0.299	0.19348311514925037	0.00649	0.00107	0.00683	N	AEFI	0.034249	0.04210	N	-1.81070371161343	0.00519	0.0223586	-2.03500448643959	0.00258	0.01137968	1.35450918937016E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.754	-1.51	0.08207	0.188000	0.16826	-1.699000	0.04891	-0.882000	0.02455	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	0.2578:0.4861:0.256:0.0	3.597	0.07558	793	0.45818	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	650.83	30	chr1	146992728	.	C	G	650.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.451;DP=993;ExcessHet=0.119;FS=13.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.76;MQRankSum=2.55;QD=4.37;ReadPosRankSum=-0.878;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1209:.	17	0	2	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3233.33	153	chr1	146994534	.	C	G	3233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.327;DP=1338;ExcessHet=0;FS=45.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.96;MQRankSum=7.06;QD=22.61;ReadPosRankSum=1.31;SOR=0.004	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr1	147201163	147201163	T	C	exonic	FMO5	.	nonsynonymous SNV	FMO5:NM_001144829:exon7:c.A1172G:p.Q391R,FMO5:NM_001461:exon7:c.A1172G:p.Q391R	.	426	1084	12	0	0	12	0.00550459	.	.	.	706651	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00313580781736	0.0045	0.000798722	0.0041	0.0003	0.0029	0	0.0002	0.0061	0.0022	0.0033	0.0038098	589	154602	rs56134376	0.0048	0.0048	0.0047	0.0048	0.0044	0.0047	0.0046	0.0043	0.0043	0.0007	0.0029	0.0452	0	0.0006	0.0031	0.0044	0.0066	0.0031	0.0039	0.0039	0.0040	0.0038	0.0045	0.0036	0.0035	0.0041	0.0039	0.0008	0.0033	0.0020	0.0539	0	0.0003	0.0034	0.0045	0.0085	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000790	0.41772	D	0.245662	0.979917	0.81001	D	-1.42	0.00581	N	0.81	0.48460	T	2.67	0.00196	N	0.096	0.07673	-0.9593	0.39311	T	0.015	0.06042	T	10	0.007174343	0.00163	T	0.003136	0.06815	T	0.088	0.25558	.	.	0.0806252709748	0.07271	0.6560312462568607	0.65539	0.0299026308798	0.03083	0.471916139126	0.34944	T	0.006586	0.06018	T	-0.551997	0.00284	T	-0.563347	0.16064	T	0.00822584169794112	0.00098	T	0.747125	0.38228	T	0.082621805	0.19042	0.09964729	0.23798	0.082621805	0.19041	0.09964729	0.23798	1.351	0.00173	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.796466	0.22833	15.78	0.81496501466337468	0.13714	0.66211	0.33000	D	AEFBCI	0.552831	0.56433	D	-0.569144253129553	0.19887	1.044339	-0.287007556377793	0.28525	1.591201	0.999739167396028	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	2.087000	0.41277	3.344000	0.37731	0.609000	0.47794	0.965000	0.33920	1.000000	0.68203	0.983000	0.59808	0.1502:0.0783:0.0:0.7715	5.700	0.17146	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.011364	0.02632	562.33	35	chr1	147201163	.	T	C	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=685;ExcessHet=0;FS=1.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=1.51;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr1	147255898	147255898	C	T	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256336:exon3:c.C133T:p.R45C,CHD1L:NM_001348453:exon3:c.C94T:p.R32C,CHD1L:NM_001348452:exon4:c.C217T:p.R73C,CHD1L:NM_004284:exon4:c.C433T:p.R145C,CHD1L:NM_024568:exon4:c.C94T:p.R32C,CHD1L:NM_001348451:exon5:c.C217T:p.R73C	.	424	1095	3	0	0	3	0.00136799	.	.	.	2330686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.116388344784	0.0002	0.000199681	0.0005	9.85e-05	0	0	0	0.0007	0	0.0010	0.000414	64	154602	rs201680696	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0008	0.0007	2.988e-05	4.475e-05	0.0007	0	0	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0	0	0.0005	0.0014	0.0006	0.085	0.32769	T	0.075	0.43721	T	0.001	0.07471	B	0.004	0.10090	B	0.601799	0.05650	N	1.190080	1	0.08975	N	1.365	0.34158	L	-3.16	0.92996	D	-1.24	0.31375	N	0.167	0.17691	-0.5182	0.67981	T	0.438	0.77695	T	10	0.06019959	0.07357	T	0.116388	0.79586	D	0.184	0.45763	.	.	0.308278614506	0.30437	0.3291215404785925	0.32825	0.0473593968193	0.05163	0.202707260847	0.00539	T	0.032568	0.72268	T	-0.351374	0.04641	T	-0.359284	0.38136	T	0.0173434305545209	0.00473	T	0.258174	0.04088	T	0.05462675	0.10506	0.03855147	0.03748	0.05462675	0.10506	0.03855147	0.03747	-0.765	0.00773	T	.	.	0.069	0.22789	B	.;.;.	.;.;.	0.481829	0.08514	5.275	0.94182931576180495	0.24404	0.05958	0.11916	N	AEFBI	0.048337	0.08236	N	-1.11143778960256	0.06438	0.2963945	-1.1572761102137	0.06638	0.3201982	0.0948772288606011	0.16215	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.66	-1.64	0.07874	-0.103000	0.10909	-5.032000	0.01878	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.3524:0.1458:0.5018	5.748	0.17400	781	0.47532	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	320.33	35	chr1	147255898	.	C	T	320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=600;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.16;SOR=0.693	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,679	18	0	1	0
chr1	147286377	147286377	G	A	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256338:exon12:c.G1486A:p.G496R,CHD1L:NM_001256337:exon13:c.G1255A:p.G419R,CHD1L:NM_001348454:exon13:c.G1642A:p.G548R,CHD1L:NM_001348456:exon13:c.G1255A:p.G419R,CHD1L:NM_001348463:exon14:c.G1255A:p.G419R,CHD1L:NM_001348466:exon14:c.G1255A:p.G419R,CHD1L:NM_001348459:exon16:c.G1255A:p.G419R,CHD1L:NM_001348461:exon16:c.G1255A:p.G419R,CHD1L:NM_001348464:exon16:c.G1255A:p.G419R,CHD1L:NM_001256336:exon17:c.G1798A:p.G600R,CHD1L:NM_001348453:exon17:c.G1759A:p.G587R,CHD1L:NM_001348455:exon17:c.G1609A:p.G537R,CHD1L:NM_001348457:exon17:c.G1255A:p.G419R,CHD1L:NM_001348458:exon17:c.G1255A:p.G419R,CHD1L:NM_001348460:exon17:c.G1255A:p.G419R,CHD1L:NM_001348465:exon17:c.G1255A:p.G419R,CHD1L:NM_001348452:exon18:c.G1882A:p.G628R,CHD1L:NM_001348462:exon18:c.G1255A:p.G419R,CHD1L:NM_004284:exon18:c.G2098A:p.G700R,CHD1L:NM_024568:exon18:c.G1759A:p.G587R,CHD1L:NM_001348451:exon19:c.G1882A:p.G628R	.	419	1084	19	0	0	19	0.0086877	.	.	.	1590350	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.011686048466	0.0037	0.00199681	0.0044	0.0004	0.0014	0	0.0015	0.0057	0.0033	0.0069	0.0042432	656	154602	rs139791996	0.0043	0.0043	0.0043	0.0043	0.0057	0.0042	0.0042	0.0053	0.0051	0.0005	0.0029	0.0038	0	0.0016	0.0052	0.0047	0.0036	0.0057	0.0030	0.0030	0.0034	0.0026	0.0051	0.0028	0.0027	0.0047	0.0045	0.0007	0.0022	0.0020	0.0046	0.0002	0.0007	0.0034	0.0051	0.0028	0.0029	0.449	0.10517	T	0.487	0.19599	T	0.001	0.12183	B	0.001	0.12133	B	0.026997	0.25829	N	0.426470	0.999999	0.08975	N	1.295	0.32453	L	-1.42	0.87830	T	-1.02	0.33197	N	0.188	0.26111	-0.8328	0.53120	T	0.278	0.64936	T	10	0.00616017	0.00139	T	0.011686	0.29566	T	0.105	0.29889	0.144	0.04746	0.663445045466	0.66061	0.34576495108129196	0.34490	0.0434466765119	0.04681	0.270171433687	0.06163	T	0.020674	0.16233	T	-0.402149	0.02242	T	-0.345309	0.39742	T	0.00937878860399335	0.00120	T	0.534647	0.17878	T	0.036569055	0.04525	0.057573456	0.10490	0.032909594	0.03406	0.060682535	0.11594	-6.238	0.51750	T	.	.	0.070	0.03407	B	.;.;.;.	.;.;.;.	2.176709	0.27743	17.57	0.90329166604061739	0.19595	0.83901	0.42992	D	AEFDBI	0.436249	0.49654	N	-0.36737916967277	0.26638	1.455358	-0.27732430516068	0.28846	1.611573	0.19703071017998	0.18073	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	2.98	0.33575	4.812000	0.62303	-0.124000	0.11690	0.656000	0.54149	1.000000	0.71638	0.000000	0.08366	0.979000	0.57723	0.0792:0.1466:0.6218:0.1523	4.998	0.13595	803	0.44167	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003528	0.005051	0.002717	0.002924	0.000000	0.000000	0.009202	0.000000	0.02632	1578.33	34	chr1	147286377	.	G	A	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=745;ExcessHet=0;FS=6.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.483;SOR=1.322	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr1	147613166	147613166	C	T	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon5:c.C337T:p.P113S	.	0	225	1	0	0	1	0.00221729	.	.	.	3208883	BCL9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00188700324815	0.0018	.	0.0011	0.0004	0.0004	0	0	0.0019	0	0.0002	0.0011255	174	154602	rs41295833	0.0013	0.0013	0.0013	0.0014	0.0016	0.0013	0.0013	0.0016	0.0016	2.987e-05	0.0003	0.0012	0	0.0002	0.0009	0.0016	0.0008	0.0002	0.0012	0.0012	0.0014	0.0011	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0005	0.0009	0	0.0003	0	0.0024	0.0005	0	0.661	0.04685	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.000154	0.49130	D	0.173720	0.917682	0.36586	D	-0.55	0.02420	N	0.78	0.49358	T	0.85	0.01736	N	0.115	0.10340	-1.0765	0.08043	T	0.027	0.11485	T	10	0.0059382617	0.00133	T	0.001887	0.03325	T	0.070	0.20419	.	.	0.147330786459	0.14319	0.05737719411482173	0.05678	0.076956098967	0.08643	0.385186463594	0.22989	T	0.049551	0.28339	T	-0.579149	0.00195	T	-0.609921	0.11990	T	0.0219591725617647	0.00905	T	0.783822	0.42110	T	0.060926493	0.12557	0.077736914	0.17346	0.060926493	0.12557	0.077736914	0.17346	-2.73	0.07558	T	.	.	0.062	0.01215	B	.	.	2.441620	0.31422	18.74	0.98624171501786861	0.43825	0.92330	0.55463	D	AEFBI	0.423961	0.48933	N	-0.272964564197895	0.30196	1.681465	-0.0128931968547919	0.39132	2.315587	0.999884490038943	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	4.45	0.53365	2.926000	0.48587	2.297000	0.31994	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.6749:0.3251:0.0	14.567	0.67780	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	488.33	34	chr1	147613166	.	C	T	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.862;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.802;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	18	0	1	0
chr1	147619671	147619671	G	A	exonic	BCL9	.	nonsynonymous SNV	BCL9:NM_004326:exon8:c.G1516A:p.G506R	.	422	1097	3	0	0	3	0.0013655	.	.	.	4104622	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0403847729749	7.7e-05	.	0.0001	0.0001	0	0	0	3.041e-05	0	0.0006	8.41e-05	13	154602	rs138146164	4.789e-05	4.788e-05	3.811e-05	5.776e-05	0.0005	3.86e-05	3.54e-05	0.0004	0.0004	0	0	0	0	0	0.0005	1.439e-05	9.934e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.014	0.53172	D	0.039	0.51112	D	1.0	0.90584	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.735	0.44892	L	0.12	0.61089	T	-3.35	0.66436	D	0.932	0.93723	-0.5953	0.65008	T	0.298	0.66970	T	10	0.68550384	0.71537	D	0.040385	0.59348	D	0.352	0.67326	0.262	0.20631	0.460303613973	0.45655	0.6598808838569407	0.65925	0.467027789823	0.46087	0.800734460354	0.82074	T	0.455464	0.79460	T	0.0100752	0.53034	T	0.13749	0.79383	D	0.166184741230562	0.18316	T	0.929607	0.73996	D	0.3614895	0.57950	0.39029518	0.63828	0.3614895	0.57950	0.39029518	0.63828	-9.059	0.68076	D	.	.	0.764	0.75679	P	.	.	4.937178	0.81443	27.6	0.99878539405555256	0.95491	0.99528	0.97099	D	AEFDBI	0.903134	0.85185	D	0.778269155896288	0.84729	8.369847	0.782703065219387	0.88566	9.630376	0.999999999784205	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.785000	0.84334	11.818000	0.97148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.614	0.95617	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	37	chr1	147619671	.	G	A	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=799;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.574;SOR=0.608	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr1	148118708	148118708	T	C	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon10:c.A1003G:p.K335E,NBPF11:NM_001385470:exon10:c.A1003G:p.K335E,NBPF11:NM_001385477:exon10:c.A778G:p.K260E,NBPF11:NM_001385480:exon10:c.A778G:p.K260E,NBPF11:NM_001101663:exon11:c.A1003G:p.K335E,NBPF11:NM_001385469:exon11:c.A1003G:p.K335E,NBPF11:NM_001385475:exon11:c.A1003G:p.K335E,NBPF11:NM_001385479:exon11:c.A778G:p.K260E,NBPF11:NM_183372:exon11:c.A1003G:p.K335E,NBPF11:NM_001385471:exon12:c.A1003G:p.K335E,NBPF11:NM_001385474:exon12:c.A1003G:p.K335E,NBPF11:NM_001385478:exon12:c.A778G:p.K260E,NBPF11:NM_001385472:exon13:c.A1003G:p.K335E,NBPF11:NM_001385473:exon13:c.A1003G:p.K335E,NBPF11:NM_001385476:exon13:c.A1003G:p.K335E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000896431306332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	8.893e-06	9.535e-06	6.88e-06	0.0004	4.38e-06	3.46e-06	6.855e-05	2.867e-05	0	2.236e-05	0	0	0	0.0004	5.397e-06	0	3.48e-05	6.59e-06	6.568e-06	1.288e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.423	0.23365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.062	0.03392	-0.8770	0.49997	T	0.003	0.01059	T	8	0.034911126	0.01718	T	0.001159	0.01459	T	.	.	0.358	0.36060	0.497806138765	0.49414	0.020590533355745233	0.02012	.	.	.	.	.	0.025161	0.18867	T	-0.197539	0.21160	T	-0.521527	0.20141	T	0.0406361076736253	0.03805	T	0.684832	0.29327	T	0.15266363	0.34644	0.17835844	0.40500	0.15266363	0.34643	0.17835844	0.40499	-7.158	0.55179	T	.	.	0.119	0.43393	B	.;.;.;.	.;.;.;.	-0.141986	0.03399	0.614	0.24043567785313869	0.01044	0.00231	0.01293	N	AEFI	0.031229	0.03294	N	-1.82943543715609	0.00477	0.02053445	-1.97144013429089	0.00351	0.01552052	6.74544609933902E-4	0.07599	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	-0.237	0.12417	0.001000	0.12940	0.159000	0.15383	-0.931000	0.02145	0.003000	0.16062	0.000000	0.08366	0.033000	0.13494	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2174.33	40	chr1	148118708	.	T	C	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.089;DP=937;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.84;MQRankSum=-3.293;QD=9.33;ReadPosRankSum=-0.623;SOR=0.609	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	1570.43	40	chr1	148123871	.	C	A	1570.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.97;DP=783;ExcessHet=0.7564;FS=2.799;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=34.29;MQRankSum=2.75;QD=8.22;ReadPosRankSum=-0.486;SOR=0.94	GT:AD:DP:GQ:PL	0/1:46,11:57:99:232,0,1389	15	0	4	0
chr1	148126985	148126985	G	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon4:c.C19T:p.P7S,NBPF11:NM_001385470:exon4:c.C19T:p.P7S,NBPF11:NM_001101663:exon5:c.C19T:p.P7S,NBPF11:NM_001385469:exon5:c.C19T:p.P7S,NBPF11:NM_001385475:exon5:c.C19T:p.P7S,NBPF11:NM_183372:exon5:c.C19T:p.P7S,NBPF11:NM_001385471:exon6:c.C19T:p.P7S,NBPF11:NM_001385474:exon6:c.C19T:p.P7S,NBPF11:NM_001385472:exon7:c.C19T:p.P7S,NBPF11:NM_001385473:exon7:c.C19T:p.P7S,NBPF11:NM_001385476:exon7:c.C19T:p.P7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000460740859465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491e-06	3.981e-06	6.428e-06	2.802e-06	7.342e-06	1.2e-06	3.3e-07	1.95e-06	5.4e-07	0	0	0	0	0	0	7.342e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	2.175	0.60977	M	.	.	.	.	.	.	0.109	0.09490	-1.0423	0.16621	T	0.020	0.08500	T	7	0.124608755	0.23670	T	4.61E-4	0.00116	T	.	.	0.344	0.33788	0.0920862733494	0.08535	0.013460249757540281	0.01304	.	.	.	.	.	0.014171	0.12117	T	-0.171219	0.25050	T	-0.48372	0.24051	T	0.140348342900473	0.16306	T	0.908809	0.67676	D	0.045333724	0.07402	0.10129385	0.24245	0.045333724	0.07401	0.10129385	0.24244	-6.788	0.52470	T	.	.	0.178	0.38836	B	.;.;.	.;.;.	0.169536	0.05586	2.043	0.47452489419934113	0.03881	0.00290	0.01555	N	AEFI	0.039482	0.05742	N	-0.530197244455253	0.21109	1.117827	-0.848689221736056	0.13319	0.6902935	1.11536234223363E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	0.118	0.13972	-3.092000	0.00670	-20.000000	0.00162	-1.320000	0.01227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	21	chr1	148126985	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.64;MQRankSum=-0.86;QD=19.3;ReadPosRankSum=1.26;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:75:0,75,1125	18	0	1	0
chr1	148483198	148483198	G	A	exonic	PPIAL4G	.	nonsynonymous SNV	PPIAL4G:NM_001123068:exon1:c.C55T:p.R19C	.	.	.	.	.	.	.	.	.	.	.	4045885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00623995150813	.	.	5.803e-05	0.0001	0	0.0002	0	3.006e-05	0	0.0001	4.53e-05	7	154602	rs1196181037	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0002	9.85e-06	8.42e-06	2.375e-05	1.258e-05	8.963e-05	0	0	5.038e-05	0	0.0002	9.893e-06	4.969e-05	2.319e-05	1.972e-05	1.97e-05	3.855e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.217	0.19157	T	0.241	0.24334	T	.	.	.	.	.	.	0.012149	0.29273	N	0.299102	0.699804	0.30114	N	.	.	.	0.69	0.51714	T	-0.72	0.20358	N	0.1	0.08227	-0.9399	0.42632	T	0.049	0.21026	T	7	0.046397835	0.03825	T	7.0E-4	0.00435	T	.	.	.	.	0.043077524339	0.03247	0.5705028628190415	0.56978	.	.	0.43451628089	0.29827	T	0.096617	0.39860	T	-0.190752	0.22147	T	-0.511778	0.21132	T	0.183053249369585	0.19426	T	0.753225	0.37546	T	0.06760562	0.14655	0.032571033	0.02014	0.06760562	0.14655	0.032571033	0.02013	-7.838	0.59961	D	.	.	0.095	0.15070	B	.	.	0.563607	0.09324	6.103	0.63067296421800378	0.07126	0.01069	0.03960	N	AEFI	0.031663	0.03431	N	-1.60101299812839	0.01259	0.05479965	-1.84118329618464	0.00636	0.02826561	4.46861746223973E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	0.351000	0.19834	-2.924000	0.03225	-0.863000	0.02614	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2898:0.0:0.7102:0.0	6.296	0.20295	.	.	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1871.33	35	chr1	148483198	.	G	A	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=821;ExcessHet=0;FS=2.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.78;MQRankSum=-0.702;QD=11.92;ReadPosRankSum=0.076;SOR=0.873	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.34	11	chr1	148533164	.	G	C	84.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.026;MQ=31.68;MQRankSum=-0.432;QD=6.49;ReadPosRankSum=-0.817;SOR=1.329	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,517	18	0	1	0
chr1	148533944	148533944	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon65:c.A8133T:p.K2711N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00026086403327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459310033	5.123e-05	4.844e-05	3.382e-05	6.573e-05	0.0003	3.632e-05	3.152e-05	0.0002	0.0001	0	0	4.897e-05	0.0001	0	0	5.95e-06	0.0002	0.0003	6.788e-06	6.59e-06	0	1.397e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.12111768	0.22954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761924	0.38711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.72548	P	.;.	.;.	0.923085	0.12983	9.487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	-0.948000	0.06824	.	.	0.551000	0.27354	0.000000	0.08366	.	.	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	172.33	35	chr1	148533944	.	T	A	172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.3;DP=644;ExcessHet=0;FS=1.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.61;MQRankSum=0.148;QD=4.66;ReadPosRankSum=0.159;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1254:.	18	0	1	0
chr1	148535490	148535490	G	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon63:c.C7897A:p.Q2633K	.	804	715	1	2	0	5	0.00348432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000400649673096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256020329	0.0050	0.0037	0.0036	0.0061	0.0189	0.0048	0.0047	0.0179	0.0175	0.0019	0.0081	0.0044	0.0006	0.0004	0.0094	0.0030	0.0040	0.0189	0.0021	0.0031	0.0021	0.0021	0.0137	0.0018	0.0017	0.0092	0.0077	0.0010	0	0.0034	0.0030	0.0008	0.0002	0.0104	0.0020	0.0037	0.0137	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.10626	.	.	.	.	.	.	.	0.018293291	0.00397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70353	0.33029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16275	B	.;.;.	.;.;.	0.270338	0.06479	2.957	.	.	.	.	.	.	0.026379	0.01970	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.283000	0.08467	-0.911000	0.06955	0.218000	0.18051	0.002000	0.15269	0.000000	0.08366	0.017000	0.10941	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	78.42	5	chr1	148535490	.	G	T	78.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=171;ExcessHet=0;FS=0;InbreedingCoeff=-0.0334;MLEAC=1;MLEAF=0.026;MQ=37.6;MQRankSum=-0.674;QD=13.07;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	18	0	1	0
chr1	148536236	148536236	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7870C:p.V2624L	.	768	752	2	0	0	2	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000202918164534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326015124	7.289e-06	5.884e-05	0	1.39e-05	8.832e-05	1.94e-06	5.4e-07	1.35e-06	5e-07	8.832e-05	0	0	0	0	0	8.091e-06	0	0	5.839e-05	0.0007	6.364e-05	5.26e-05	8.593e-05	2.723e-05	1.857e-05	1.422e-05	6.94e-06	6.14e-05	0	8.593e-05	0.0004	0	0	0	5.359e-05	0	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.07608476	0.11842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665133	0.27420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.56038	A	.;.	.;.	-0.083278	0.03741	0.775	.	.	.	.	.	.	0.020561	0.00824	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.445000	0.06918	-11.249000	0.00621	0.078000	0.17572	0.982000	0.35529	0.000000	0.08366	0.462000	0.28163	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	47.31	3	chr1	148536236	.	C	G	47.31	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.282;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0675;MLEAC=1;MLEAF=0.029;MQ=25.87;MQRankSum=0.282;QD=4.73;ReadPosRankSum=-0.493;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,139:.	16	0	1	2
chr1	148536239	148536239	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7867A:p.A2623T	.	766	754	2	0	0	2	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.000115807786078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.089e-06	6.839e-05	0	1.352e-05	8.483e-05	1.89e-06	5.2e-07	1.32e-06	5e-07	8.483e-05	0	0	0	0	0	7.945e-06	0	0	4.78e-05	0.0007	4.566e-05	5.014e-05	8.065e-05	2.016e-05	1.326e-05	1.388e-05	6.85e-06	5.788e-05	0	8.065e-05	0	0	0	0	5.228e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.20395	.	.	.	.	.	.	.	0.1079652	0.20077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.17228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.72392	P	.;.	.;.	2.158191	0.27497	17.48	.	.	.	.	.	.	0.021844	0.01021	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.524000	0.06309	-5.185000	0.01815	0.078000	0.17572	0.977000	0.34929	0.000000	0.08366	0.451000	0.27917	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	43.91	3	chr1	148536239	.	C	T	43.91	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.36;DP=242;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.028;MQ=27.46;MQRankSum=-0.183;QD=3.99;ReadPosRankSum=-0.23;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,139:.	17	0	1	1
chr1	148559846	148559846	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4169A:p.S1390N	.	462	1054	4	2	0	8	0.00378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357344090	0.0058	0.0060	0.0059	0.0057	0.0059	0.0057	0.0056	0.0058	0.0058	0.0013	0.0012	0.0014	0	0.0232	0.0005	0.0059	0.0050	0.0008	0.0064	0.0065	0.0057	0.0071	0.0085	0.0060	0.0059	0.0079	0.0077	0.0012	0.0199	0.0019	0.0009	0	0.0195	0	0.0085	0.0015	0.0024	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	0.0045357347	0.00094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79802	0.44691	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.78304	P	.;.	.;.	0.551967	0.09206	5.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.091000	0.11111	-0.231000	0.10676	0.146000	0.17681	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2033.72	34	chr1	148559846	.	C	T	2033.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.913;DP=738;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=59.54;MQRankSum=-1.723;QD=13.47;ReadPosRankSum=1.93;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	17	0	1	1
chr1	148578002	148578002	G	A	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon13:c.C1834T:p.Q612X	.	465	1054	3	0	0	3	0.00142113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322664229	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	6.609e-05	0.0002	0.0025	0	0	0	0.0005	0.0002	8.923e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.015e-05	0	0	0.0013	0	0	0	0.0004	0	0	.	.	.	0.113	0.36901	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	.	.	.	.	.	.	.	0.06157303	0.07741	T	0.009326	0.24483	T	.	.	.	.	0.283371740733	0.27958	.	.	.	.	.	.	.	.	.	.	-0.41155	0.01941	T	-0.828939	0.01281	T	0.0931139172751688	0.11582	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.28976	B	.;.;.	.;.;.	4.986908	0.82651	27.8	0.72048637563857765	0.09838	0.00139	0.00851	N	AEFI	.	.	.	-0.721608382384958	0.15415	0.7766805	-0.790023628338813	0.14739	0.7717307	1.09648973830877E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	.	.	.	1.168000	0.31468	-2.603000	0.03559	-0.383000	0.05380	0.019000	0.19563	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	37	chr1	148578002	.	G	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.157;DP=696;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.29;MQRankSum=1.5;QD=15.9;ReadPosRankSum=0.421;SOR=1.421	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1398	18	0	1	0
chr1	148586447	148586447	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon8:c.G1114A:p.A372T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296778701	0.0002	0.0005	0.0002	0.0002	0.0022	0.0002	0.0001	0.0018	0.0016	0	6.92e-05	0	0.0022	0.0001	0	7.736e-05	0.0001	0.0003	0.0003	0.0012	0.0002	0.0004	0.0010	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0002	0	0.0010	0.0003	0	0.0003	0	0.0002	.	.	.	0.042	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	3.0	0.09167	T	.	.	.	0.192	0.23884	-0.8850	0.49357	T	0.004	0.01159	T	7	0.006296009	0.00142	T	0.004016	0.09525	T	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.204111	0.20214	T	-0.530968	0.19191	T	0.00704590148008096	0.00080	T	0.488951	0.29211	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40586	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.389825	0.02250	0.231	0.82993575658718322	0.14485	0.00782	0.03209	N	AEFI	.	.	.	-1.82189801946301	0.00494	0.02125184	-1.92386896093946	0.00439	0.01941888	1.52018773964216E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	.	.	.	-0.857000	0.04394	-12.442000	0.00525	-1.609000	0.00882	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3252:0.6748:0.0:0.0	5.322	0.15195	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	92.27	16	chr1	148586447	.	C	T	92.27	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.47;DP=904;ExcessHet=0.119;FS=66.492;InbreedingCoeff=-0.0688;MLEAC=2;MLEAF=0.053;MQ=31.16;MQRankSum=-3.88;QD=1.38;ReadPosRankSum=3.18;SOR=6.357	GT:AD:DP:GQ:PL	0/1:44,7:51:31:31,0,1152	17	0	2	0
chr1	148590948	148590948	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.A587T:p.E196V	.	797	712	11	2	0	15	0.0104239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179002479	0.0023	0.0068	0.0024	0.0022	0.0059	0.0022	0.0021	0.0033	0.0026	0.0012	0.0007	0.0031	0	0.0043	0.0059	0.0028	0.0023	0.0002	0.0022	0.0079	0.0025	0.0019	0.0026	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0019	0.0016	0	0.0023	0	0.0026	0.0007	0.0006	.	.	.	0.013	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	.	.	.	0.075	0.08366	.	.	.	.	.	.	.	0.07571003	0.11735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.;.;.;.;.	.;.;.;.;.	0.639089	0.10078	6.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.111000	0.03414	-5.349000	0.01752	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	81.06	.	chr1	148590948	.	T	A	81.06	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.684;DP=399;ExcessHet=0.3892;FS=38.371;InbreedingCoeff=-0.1232;MLEAC=3;MLEAF=0.088;MQ=27.97;MQRankSum=-1.119;QD=1.33;ReadPosRankSum=-0.09;SOR=4.798	GT:AD:DP:GQ:PL	./.:9,0:9:0:0,0,242	14	0	3	2
chr1	149028590	149028590	C	T	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon37:c.C7186T:p.R2396W,PDE4DIP:NM_001198834:exon41:c.C6700T:p.R2234W,PDE4DIP:NM_014644:exon41:c.C6700T:p.R2234W,PDE4DIP:NM_001350522:exon42:c.C6541T:p.R2181W,PDE4DIP:NM_001198832:exon43:c.C6382T:p.R2128W,PDE4DIP:NM_001350521:exon43:c.C6994T:p.R2332W,PDE4DIP:NM_001350523:exon43:c.C6379T:p.R2127W,PDE4DIP:NM_001377392:exon44:c.C7111T:p.R2371W,PDE4DIP:NM_001377393:exon44:c.C6568T:p.R2190W	.	522	998	2	0	0	2	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.248e-06	9.643e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs142861673	0.0006	0.0006	0.0005	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	8.991e-05	0.0002	3.83e-05	0.0002	0.0006	0.0005	0.0006	0.0005	0.0008	0.0007	0.0007	0.0007	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	2.41e-05	0	0.0002	0	0.0002	0.0005	0	0.0013	0.0009	0.0004	0.189	0.21304	T	0.166	0.31427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	0.01459	T	-1.51	0.36787	N	0.268	0.30347	.	.	.	.	.	.	.	0.102127194	0.18700	T	.	.	.	.	.	.	.	.	.	0.5621689081825366	0.56143	.	.	.	.	.	0.026636	0.19670	T	.	.	.	.	.	.	.	.	.	0.819518	0.48720	T	.	.	.	.	.	.	.	.	-6.277	0.48540	T	.	.	0.104	0.20741	B	.;.;.;.;.	.;.;.;.;.	3.226851	0.43993	21.8	.	.	.	.	.	.	0.278791	0.39299	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981000	0.29124	-0.448000	0.09117	0.512000	0.23348	0.017000	0.19353	0.000000	0.08366	0.022000	0.11911	.	.	.	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	231.33	33	chr1	149028590	.	C	T	231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=448;ExcessHet=0;FS=4.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-0.736;QD=11.57;ReadPosRankSum=1.41;SOR=0.493	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,733	18	0	1	0
chr1	149064443	149064443	G	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon14:c.C1841T:p.A614V,NBPF9:NM_001277444:exon14:c.C1841T:p.A614V	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000377717358613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342081158	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0007	0.0005	0	0.0002	0.0011	0	0	0.0017	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.47e-05	0.0001	8.906e-05	0	0	0.0003	0.0009	0	0	0.0137	0.0002	0	0	.	.	.	0.163	0.34959	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.10340	-1.0442	0.16059	T	0.020	0.08546	T	5	0.074618876	0.11429	T	5.38E-4	0.00196	T	.	.	.	.	0.141422826196	0.13715	.	.	.	.	0.457975178957	0.33032	T	.	.	.	-0.0819939	0.39391	T	-0.355555	0.38568	T	0.0862100645899773	0.10762	T	0.962554	0.86020	D	0.043768667	0.06881	0.12613955	0.30383	0.043768667	0.06881	0.12613955	0.30382	-5.089	0.40871	T	.	.	0.175	0.44436	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.711044	0.10799	7.482	0.9571629405026485	0.27633	0.00473	0.02263	N	AEFI	0.043584	0.06908	N	-0.74928104195695	0.14653	0.731742	-0.992932384571843	0.09942	0.4977197	1.10942770519523E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.579000	0.05927	-5.792000	0.01595	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	889	0.27310	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	33	chr1	149064443	.	G	A	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.83;MQRankSum=0.215;QD=10.24;ReadPosRankSum=1.03;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/0:439,0:439:17:0,17,10519	8	0	11	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	77.23	36	chr1	149079127	.	C	G	77.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.324;DP=580;ExcessHet=0.3672;FS=65.39;InbreedingCoeff=-0.085;MLEAC=2;MLEAF=0.053;MQ=35.5;MQRankSum=-1.552;QD=1.06;ReadPosRankSum=-1.25;SOR=5.668	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	16	0	3	0
chr1	149080083	149080083	G	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.C248T:p.A83V,NBPF9:NM_001277444:exon3:c.C248T:p.A83V	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00153196257236	.	.	8.505e-06	0	0	0	0	1.546e-05	0	0	.	.	.	rs1358112198	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0178	0.0173	0.0191	0.0006	0	0	0	0.0002	3.813e-06	0.0010	1.177e-05	0.0058	0.0059	0.0061	0.0056	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0018	0	0	0	0	0	0.0028	0	.	.	.	0.328	0.35205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.18376	-0.8804	0.49730	T	0.004	0.01470	T	6	0.0055331886	0.00122	T	0.001532	0.02394	T	.	.	0.143	0.04650	0.251639045875	0.24756	.	.	.	.	0.512588560581	0.40584	T	.	.	.	-0.089532	0.38154	T	-0.366383	0.37311	T	0.0674584518706322	0.08290	T	0.772623	0.46223	T	0.0812143	0.18648	0.14192447	0.33782	0.0812143	0.18648	0.14192447	0.33781	-8.115	0.61852	D	.	.	0.254	0.56218	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.119204	0.15051	11.55	0.96539843720177188	0.30183	0.00265	0.01446	N	AEFBI	0.027162	0.02168	N	-0.921563084887521	0.10338	0.4935705	-1.09547364907663	0.07789	0.3802531	1.34553614013891E-6	0.01202	0.67177	0.52595	0	0.643519	0.57511	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	0.521	0.521	0.16244	0.216000	0.17370	0.717000	0.20982	0.377000	0.20376	0.004000	0.16614	0.002000	0.18203	0.024000	0.12247	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	203	chr1	149080083	.	G	A	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.869;DP=3952;ExcessHet=0;FS=2.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.65;MQRankSum=2.93;QD=6.13;ReadPosRankSum=-1.203;SOR=0.899	GT:AD:DP:GQ:PL	0/0:218,0:218:99:0,120,1800	18	0	1	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C,NBPF9:NM_001277444:exon3:c.T206G:p.F69C	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	546.33	203	chr1	149080125	.	A	C	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=3909;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.5;MQRankSum=-4.053;QD=3.18;ReadPosRankSum=-2.387;SOR=0.539	GT:AD:DP:GQ:PL	0/0:218,0:218:99:0,120,1800	18	0	1	0
chr1	149390829	149390829	-	GGCGGCGGCGGCGGA	exonic	NOTCH2NLC	.	nonframeshift insertion	NOTCH2NLC:NM_001364013:exon1:c.42_43insGGCGGCGGCGGCGGA:p.G18_D19insGGGGG	.	31	1450	16	1	24	42	0.00616861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1165196975	0.0042	0.0064	0.0041	0.0043	0.0046	0.0041	0.0040	0.0045	0.0044	0.0011	0.0034	0.0008	8.584e-05	0.0035	0.0029	0.0046	0.0042	0.0013	0.0040	0.0045	0.0040	0.0041	0.0100	0.0038	0.0037	0.0087	0.0082	0.0014	0	0.0100	0.0003	0.0002	0.0022	0	0.0054	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	319.46	14	chr1	149390829	.	C	CGGCGGCGGCGGCGGA	319.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=0.021;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-0.14;QD=27.2;ReadPosRankSum=1.59;SOR=1.002	GT:AD:DP:GQ:PL	0/0:4,0:5:12:0,12,99	18	0	1	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	461.79	33	chr1	149476000	.	C	A	461.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.29;DP=1346;ExcessHet=0.3672;FS=30.186;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.41;MQRankSum=-2.742;QD=0.93;ReadPosRankSum=-3.924;SOR=5.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,16:210:44:0|1:149476000_C_A:44,0,8035:149476000	16	0	3	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	594.42	33	chr1	149476006	.	G	A	594.42	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.17;DP=1693;ExcessHet=0.7564;FS=21.221;InbreedingCoeff=-0.1173;MLEAC=4;MLEAF=0.105;MQ=33.16;MQRankSum=-2.731;QD=0.8;ReadPosRankSum=-3.525;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,21:224:99:0|1:149476000_C_A:131,0,8250:149476000	15	0	4	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	378.35	9	chr1	149488149	.	G	C	378.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=37.49;MQRankSum=-1.723;QD=12.2;ReadPosRankSum=-0.281;SOR=0.693	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1118	18	0	1	0
chr1	149517471	149517471	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon46:c.A5621T:p.Q1874L	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185344434	0.0011	0.0010	0.0013	0.0009	0.0091	0.0010	0.0010	0.0076	0.0071	0	0	0.0011	0.0091	0.0054	0	0.0002	0.0019	0.0009	0.0004	0.0010	0.0003	0.0005	0.0020	0.0002	0.0001	3.174e-05	1.31e-05	0	0	0	0.0015	0.0020	0.0034	0	0.0002	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.9281	0.44415	T	0.006	0.02168	T	4	0.024324328	0.00665	T	9.58E-4	0.00980	T	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	0.010577	0.09538	T	-0.20922	0.19490	T	-0.538307	0.18463	T	0.0881984476856418	0.11002	T	0.853215	0.53849	D	0.09412004	0.22122	0.25445613	0.51111	0.09412004	0.22122	0.25445613	0.51110	-10.94	0.79328	D	.	.	.	.	.	.	.	1.737957	0.22118	15.49	0.64021622242399012	0.07380	0.00373	0.01896	N	AEFI	.	.	.	-0.976898481875597	0.09099	0.4292426	-1.22424766267977	0.05523	0.2633597	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.811000	0.26855	-15.477000	0.00355	.	.	0.036000	0.20778	0.000000	0.08366	.	.	.	.	.	804	0.43891	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	777.36	.	chr1	149517471	.	A	T	777.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.24;DP=381;ExcessHet=0.1424;FS=4.755;InbreedingCoeff=-0.0671;MLEAC=2;MLEAF=0.063;MQ=37.55;MQRankSum=-1.807;QD=11.11;ReadPosRankSum=2.16;SOR=1.287	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	14	0	2	3
chr1	149529178	149529178	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon61:c.A7351T:p.S2451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287266379	0.0002	0.0001	0.0002	0.0002	0.0072	0.0001	0.0001	0.0051	0.0044	0.0072	0.0006	0	0	0	0	0	0.0001	6.312e-05	0.0017	0.0011	0.0013	0.0022	0.0073	0.0012	0.0011	0.0053	0.0046	0.0073	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.067	0.05287	-1.0434	0.16294	T	0.031	0.13504	T	6	0.01785776	0.00384	T	4.27E-4	0.00092	T	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.011315	0.10113	T	-0.332952	0.05891	T	-0.716039	0.04990	T	0.282952517271042	0.24295	T	0.935806	0.75965	D	0.1357867	0.31502	0.17433259	0.39821	0.1357867	0.31502	0.17433259	0.39821	-12.535	0.87359	D	.	.	0.362	0.57324	A	.;.	.;.	1.154655	0.15429	11.84	0.95830680580761529	0.27936	0.00143	0.00871	N	AEFI	0.046730	0.07791	N	-0.669452465565306	0.16895	0.864847	-0.981875717413994	0.10193	0.5117955	4.57484252169136E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.623	-1.25	0.08920	-0.515000	0.06375	-5.038000	0.01875	0.367000	0.20222	0.987000	0.36337	0.000000	0.08366	0.004000	0.06068	.	.	.	804	0.43891	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	54.34	.	chr1	149529178	.	A	T	54.34	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-0.431;DP=32;ExcessHet=0;FS=0;InbreedingCoeff=-0.1707;MLEAC=2;MLEAF=0.077;MQ=39.59;MQRankSum=-1.068;QD=7.76;ReadPosRankSum=-0.366;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,66	12	0	1	6
chr1	149913636	149913638	CTC	-	exonic	SV2A	.	nonframeshift deletion	SV2A:NM_001328674:exon2:c.203_205del:p.G68del,SV2A:NM_001328675:exon2:c.203_205del:p.G68del,SV2A:NM_014849:exon2:c.203_205del:p.G68del	.	.	.	.	.	.	.	.	.	.	.	718184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0044	0.00339457	0.0008	0.0089	0.0003	0	0	1.498e-05	0	0	0.0006339	98	154602	rs1379831297	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0063	0.0061	0.0071	0.0004	0	0	0	0.0007	2.698e-06	0.0006	4.637e-05	0.0025	0.0025	0.0024	0.0026	0.0087	0.0023	0.0022	0.0079	0.0076	0.0087	0	0.0005	0	0	0	0	0	0.0033	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3465.29	33	chr1	149913635	.	TCTC	T	3465.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=837;ExcessHet=0;FS=6.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.29;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1403	18	0	1	0
chr1	149929874	149929874	A	G	exonic	MTMR11	.	nonsynonymous SNV	MTMR11:NM_181873:exon15:c.T1474C:p.F492L,MTMR11:NM_001145862:exon16:c.T1690C:p.F564L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0061629479596	7.7e-05	0.00159744	0.0003	0	0.0009	0.0001	0.0002	0.0004	0.0011	6.07e-05	0.0003687	57	154602	rs144230247	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	8.961e-05	0.0008	0	0	0	0.0014	0.0002	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0016	0.0003	0.0003	0.0011	0.0009	4.813e-05	0	0.0016	0	0.0002	9.413e-05	0	0.0005	0.0009	0.0004	1.0	0.00964	T	0.732	0.06265	T	0.518	0.38659	P	0.204	0.41295	B	0.010476	0.29911	N	0.300767	0.808027	0.81001	D	0.955	0.23872	L	1.0	0.41392	T	-0.55	0.18042	N	0.362	0.44857	-1.0853	0.06353	T	0.030	0.12717	T	10	0.0177522	0.00381	T	0.006163	0.16141	T	0.073	0.21317	0.34	0.33141	0.463928626847	0.46019	0.47319279478544907	0.47238	0.437867567664	0.43827	0.549840569496	0.45835	T	0.00848	0.07783	T	-0.405384	0.02133	T	-0.422559	0.30783	T	0.0391717974180152	0.03541	T	0.683432	0.29175	T	0.16826898	0.37275	0.107833005	0.25966	0.16826898	0.37274	0.107833005	0.25965	-1.698	0.02224	T	.	.	0.771	0.77788	P	.;.	.;.	3.107525	0.41902	21.4	0.98482744006096712	0.42002	0.60850	0.31314	D	AEFBCI	0.315297	0.41991	N	-0.108294401675555	0.37032	2.148677	0.0589775457812478	0.42507	2.572263	0.999967956201386	0.48965	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.13	5.13	0.69729	2.615000	0.46032	11.233000	0.90171	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.431	0.54911	212	0.91760	.;Myotubularin-related 12-like C-terminal domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	847.33	36	chr1	149929874	.	A	G	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.589;DP=720;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.322;SOR=1.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	18	0	1	0
chr1	150151009	150151009	-	CCCCC	exonic	PLEKHO1	.	frameshift insertion	PLEKHO1:NM_016274:exon2:c.128_129insCCCCC:p.R44Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	255.29	34	chr1	150151009	.	A	ACCCCC	255.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.326;DP=736;ExcessHet=0;FS=66.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.41;ReadPosRankSum=0.028;SOR=5.89	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	18	0	1	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q,PLEKHO1:NM_001304724:exon5:c.G287A:p.R96Q,PLEKHO1:NM_001304722:exon6:c.G320A:p.R107Q,PLEKHO1:NM_016274:exon6:c.G836A:p.R279Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.008152	0.005848	0.050000	0.000000	0.006098	0.022727	0.02632	834.33	35	chr1	150159129	.	G	A	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=700;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.312;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	150473141	150473141	C	T	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297674:exon10:c.C4115T:p.P1372L,RPRD2:NM_015203:exon11:c.C4193T:p.P1398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00650025399982	0.0002	.	8.314e-05	0	0	0.0006	0	4.52e-05	0.0022	0	6.47e-05	10	154602	rs369152525	3.558e-05	3.557e-05	2.451e-05	4.676e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0.0002	0.0006	0	0	1.439e-05	9.939e-05	2.319e-05	4.596e-05	4.593e-05	3.854e-05	5.37e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.011	0.64786	D	0.16	0.28337	B	0.06	0.26717	B	0.039592	0.24153	N	0.395014	0.540086	0.31419	N	0.55	0.14455	N	0.94	0.43672	T	-1.84	0.43149	N	0.201	0.32037	-1.0887	0.05752	T	0.028	0.11926	T	10	0.043866336	0.03283	T	0.006	0.17129	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.3461243475387154	0.34526	0.217698442251	0.24293	0.446594148874	0.31478	T	0.023304	0.17814	T	-0.410387	0.01976	T	-0.507259	0.21597	T	0.0584424013723955	0.06921	T	0.741226	0.36032	T	0.06642623	0.14291	0.08423271	0.19361	0.06642623	0.14290	0.08423271	0.19361	-4.05	0.24549	T	.	.	0.090	0.12465	B	.;.	.;.	2.259363	0.28866	17.94	0.95054547439095494	0.26075	0.76675	0.37624	D	AEFBCI	.	.	.	-0.323738044313159	0.28249	1.556557	-0.189718431869534	0.31914	1.81058	0.273121819482342	0.18913	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	4.47	3.54	0.39650	1.545000	0.35775	4.014000	0.41189	0.599000	0.40250	0.978000	0.35038	0.999000	0.35428	0.991000	0.66497	0.3332:0.5808:0.0:0.0859	6.794	0.22898	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1480.33	38	chr1	150473141	.	C	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=740;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.389;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1279	18	0	1	0
chr1	150497543	150497543	A	G	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon6:c.A644G:p.H215R,TARS2:NM_001271895:exon8:c.A788G:p.H263R,TARS2:NM_025150:exon10:c.A1034G:p.H345R	.	428	1089	5	0	0	5	0.00229043	.	.	.	364463	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	0.0224772810314	0.0062	0.00179712	0.0051	0.0014	0.0014	0	0.0073	0.0074	0.0088	0.0022	0.0051746	800	154602	rs115390773	0.0068	0.0068	0.0070	0.0066	0.0078	0.0067	0.0066	0.0077	0.0076	0.0010	0.0021	0.0007	0	0.0101	0.0053	0.0078	0.0063	0.0020	0.0054	0.0054	0.0052	0.0055	0.0072	0.0050	0.0049	0.0067	0.0065	0.0012	0.1156	0.0030	0.0006	0	0.0101	0.0034	0.0072	0.0038	0.0012	0.474	0.10945	T	0.69	0.11407	T	0.0	0.02946	B	0.001	0.04355	B	0.001625	0.38439	N	0.251191	1	0.81001	D	-2.42	0.00071	N	-0.1	0.64264	T	2.55	0.00222	N	0.188	0.20528	-1.0527	0.13655	T	0.016	0.06377	T	10	0.004318863	0.00087	T	0.022477	0.45373	T	0.067	0.19503	.	.	0.367612772649	0.36367	0.5335454136905511	0.53279	0.515429993858	0.49451	0.318209052086	0.13150	T	0.003229	0.06968	T	-0.618769	0.00112	T	-0.6522	0.08801	T	0.00351738604523017	0.00037	T	0.60264	0.22576	T	0.017723493	0.00297	0.031311452	0.01704	0.018937642	0.00417	0.034975633	0.02661	2.63	0.00071	T	0.033098511950648064	0.00136	0.047	0.00243	B	.;.;.;.	.;.;.;.	-0.091914	0.03689	0.749	0.25475923750142315	0.01176	0.01253	0.04406	N	AEFDGBI	0.032176	0.03584	N	-1.39773382501968	0.02660	0.1177558	-1.21022998561263	0.05744	0.2745864	2.72357574607139E-4	0.06300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	0.482	0.16025	0.013000	0.13206	0.324000	0.17215	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.790000	0.37311	0.4432:0.1277:0.2981:0.131	2.039	0.03332	154	0.93967	Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Threonyl/alanyl tRNA synthetase, SAD|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	331.33	36	chr1	150497543	.	A	G	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.056;DP=641;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.466;SOR=0.26	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1104	18	0	1	0
chr1	150498948	150498948	G	A	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon8:c.G1063A:p.V355I,TARS2:NM_001271895:exon10:c.G1207A:p.V403I,TARS2:NM_025150:exon12:c.G1453A:p.V485I	.	0	225	1	0	0	1	0.00221729	.	.	.	364443	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0044	0.00439297	0.0012	0.0126	0.0004	0.0001	0	8.995e-05	0	0.0002	0.0010996	170	154602	rs116552645	0.0004	0.0004	0.0004	0.0003	0.0101	0.0003	0.0003	0.0092	0.0089	0.0101	0.0006	0	2.519e-05	0	0.0007	7.824e-05	0.0010	0.0001	0.0033	0.0033	0.0030	0.0036	0.0113	0.0031	0.0030	0.0105	0.0101	0.0113	0	0.0013	0	0	0	0	5.879e-05	0.0033	0.0004	0.339	0.12754	T	0.334	0.18340	T	0.592	0.39119	P	0.063	0.27082	B	0.000716	0.42254	N	0.153528	0.98619	0.81001	D	1.18	0.29980	L	-0.29	0.67712	T	-0.61	0.18670	N	0.19	0.23632	-1.0729	0.08787	T	0.077	0.30798	T	10	0.009222984	0.00208	T	.	.	.	0.124	0.34239	.	.	0.59394422163	0.59072	0.3050416473263963	0.30417	0.386120617824	0.39908	0.313498705626	0.12435	T	0.180346	0.54369	T	-0.521254	0.00433	T	-0.511134	0.21199	T	0.0175404571325306	0.00488	T	0.762524	0.38803	T	0.013592848	0.00064	0.026527768	0.00746	0.015530105	0.00143	0.029044142	0.01200	-7.005	0.54070	T	0.16305408521268394	0.20067	0.094	0.14933	B	.;.;.;.	.;.;.;.	1.612397	0.20604	14.83	0.95470993359064393	0.27018	0.93788	0.59193	D	AEFGBI	0.292929	0.40368	N	-0.466718648578971	0.23177	1.242791	-0.490649944850288	0.22410	1.217063	0.0431790600171616	0.14558	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	1.93	0.24985	4.009000	0.56822	2.077000	0.30474	-0.181000	0.10308	1.000000	0.71638	0.983000	0.30585	0.717000	0.34675	0.2437:0.1389:0.6174:0.0	5.958	0.18522	157	0.93883	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)|Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1873.33	34	chr1	150498948	.	G	A	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.655;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr1	150508228	150508228	G	C	exonic	ECM1	.	nonsynonymous SNV	ECM1:NM_001202858:exon1:c.G19C:p.A7P,ECM1:NM_004425:exon1:c.G19C:p.A7P,ECM1:NM_022664:exon1:c.G19C:p.A7P	Urbach-Wiethe disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0711399084985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.971	0.72444	D	0.016159	0.28054	N	0.288637	0.959566	0.26181	N	2.25	0.63811	M	-1.46	0.80983	T	-3.06	0.63554	D	0.37	0.51405	-0.4977	0.68733	T	0.447	0.78282	T	10	0.5221722	0.62705	D	0.07114	0.71191	D	0.598	0.84074	0.805	0.92301	0.922501734209	0.92172	0.7089109719973451	0.70833	0.537570943843	0.51054	0.413878381252	0.26993	T	0.439746	0.78492	T	0.0744202	0.61381	D	-0.130877	0.60897	T	0.962996184825897	0.66529	D	0.819018	0.49341	T	0.6393571	0.74796	0.63119364	0.78485	0.6393571	0.74798	0.63119364	0.78485	-5.332	0.43747	T	.	.	0.473	0.63333	A	.;.;.	.;.;.	3.510544	0.49159	22.7	0.99655089468926106	0.77568	0.39830	0.26301	N	AEFGBHCI	0.509208	0.53877	D	0.114984257520471	0.47161	2.94577	0.0312513492455686	0.41174	2.469312	0.999999998941111	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.654926	0.60358	0	.	.	4.45	2.43	0.28797	1.022000	0.29655	1.615000	0.27656	0.676000	0.76740	0.801000	0.29734	0.997000	0.33255	0.927000	0.46353	0.0:0.1793:0.6355:0.1851	7.585	0.27156	166	0.93555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1927.33	35	chr1	150508228	.	G	C	1927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.527;DP=796;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.659;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1356	18	0	1	0
chr1	150553575	150553575	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C584T:p.P195L,ADAMTSL4:NM_001288608:exon6:c.C584T:p.P195L,ADAMTSL4:NM_001378596:exon6:c.C584T:p.P195L,ADAMTSL4:NM_019032:exon6:c.C584T:p.P195L,ADAMTSL4:NM_025008:exon6:c.C584T:p.P195L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	277171	not_provided|ADAMTSL4-related_disorder|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|.|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.080	.	0.0017	0.00299521	0.0008	0.0077	8.639e-05	0.0012	0	7.493e-05	0.0011	6.057e-05	0.0007956	123	154602	rs139990606	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0004	0.0002	0.0008	0	0.0017	4.227e-05	0.0008	5.797e-05	0.0021	0.0021	0.0021	0.0020	0.0071	0.0019	0.0018	0.0064	0.0062	0.0071	0	0.0009	0	0.0004	0	0	2.943e-05	0.0005	0.0004	0.004	0.65419	D	0.031	0.62352	D	0.814	0.48154	P	0.122	0.36167	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	-0.16	0.65378	T	-2.04	0.46842	N	0.342	0.41063	-1.0993	0.04177	T	0.049	0.20750	T	9	0.0045513213	0.00094	T	.	.	.	0.080	0.23350	.	.	0.764317863173	0.76217	0.4136307985109546	0.41279	0.161310925367	0.18205	0.377757012844	0.21938	T	0.007129	0.06547	T	-0.468299	0.00871	T	-0.44159	0.28629	T	0.0101449848829457	0.00137	T	0.574643	0.20620	T	0.045548607	0.07475	0.064311706	0.12871	0.045548607	0.07474	0.064311706	0.12871	-4.548	0.31512	T	0.3185897759273933	0.41670	0.079	0.12371	B	.;.;.;.	.;.;.;.	2.397519	0.30800	18.55	0.99121636102400645	0.53011	0.09418	0.15178	N	AEFGBCI	0.059500	0.11243	N	-0.554865975683006	0.20332	1.071003	-0.661756969249833	0.17921	0.9550472	0.999997490563558	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.54	1.38	0.21262	0.658000	0.24662	1.695000	0.28095	0.589000	0.31548	0.001000	0.13787	0.003000	0.18671	0.186000	0.21481	0.1672:0.5646:0.1639:0.1043	3.548	0.07391	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4427.33	41	chr1	150553575	.	C	T	4427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=1675;ExcessHet=0;FS=9.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.13;SOR=1.104	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,978	18	0	1	0
chr1	150553794	150553794	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001288608:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001378596:exon6:c.C803T:p.S268F,ADAMTSL4:NM_019032:exon6:c.C803T:p.S268F,ADAMTSL4:NM_025008:exon6:c.C803T:p.S268F	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	718192	Ectopia_lentis_2,_isolated,_autosomal_recessive|not_provided|Ectopia_lentis_et_pupillae	MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MedGen:C3661900|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0089	0.00339457	0.0085	0.0025	0.0046	0	0.0129	0.0119	0.01	0.0039	0.0084152	1301	154602	rs41317517	0.0099	0.0099	0.0101	0.0096	0.0111	0.0097	0.0097	0.0104	0.0103	0.0017	0.0068	0.0257	0	0.0113	0.0111	0.0105	0.0103	0.0044	0.0080	0.0080	0.0083	0.0076	0.0110	0.0076	0.0074	0.0100	0.0097	0.0023	0	0.0110	0.0276	0.0002	0.0082	0.0034	0.0106	0.0118	0.0035	0.082	0.33418	T	0.045	0.49390	D	0.002	0.12996	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-0.08	0.63911	T	-1.29	0.32387	N	0.197	0.21969	-0.9891	0.32828	T	0.064	0.26597	T	9	0.0032356381	0.00055	T	.	.	.	0.029	0.06676	.	.	0.613844073566	0.61072	0.4680251590189548	0.46721	0.133370945786	0.15016	0.353369951248	0.18417	T	0.004774	0.04184	T	-0.534227	0.00363	T	-0.529125	0.19374	T	0.00176258760224284	0.00018	T	0.586841	0.21439	T	0.052740633	0.09880	0.056939285	0.10265	0.049416497	0.08769	0.056939285	0.10264	-5.246	0.39406	T	0.2651501739486481	0.35751	0.080	0.20196	B	.;.;.;.	.;.;.;.	0.611437	0.09797	6.564	0.67427839698071568	0.08351	0.05423	0.11295	N	AEFDGBCI	0.042159	0.06505	N	-0.952574164664582	0.09635	0.4568694	-0.99449241703676	0.09908	0.4957493	0.99999957220898	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.73	0.378	0.15435	0.247000	0.17953	0.344000	0.17410	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5416:0.0:0.4584	7.329	0.25745	114	0.95383	.;.;.;.	.	.	.	.	rs41317517	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010574	0.015152	0.013587	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	3713.83	41	chr1	150553794	.	C	T	3713.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1340;ExcessHet=0.119;FS=3.32;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.936;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,978	17	0	2	0
chr1	150558055	150558055	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_019032:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_025008:exon14:c.C2288T:p.P763L,ADAMTSL4:NM_001288607:exon15:c.C2171T:p.P724L,ADAMTSL4:NM_001288608:exon15:c.C2357T:p.P786L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1510	11	0	1	12	0.00362917	.	.	.	276366	not_provided|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.0038	0.00399361	0.0013	0.0121	0.0008	0.0007	0	0.0004	0	0.0002	0.0011772	182	154602	rs56055939	0.0007	0.0007	0.0008	0.0007	0.0099	0.0007	0.0007	0.0090	0.0087	0.0099	0.0007	0.0001	0.0002	1.91e-05	0.0005	0.0005	0.0013	0.0006	0.0034	0.0034	0.0031	0.0036	0.0109	0.0031	0.0030	0.0100	0.0097	0.0109	0	0.0013	0	0.0004	0	0	0.0004	0.0033	0.0008	0.137	0.29288	T	0.268	0.24913	T	0.261	0.31520	B	0.098	0.30479	B	.	.	.	.	0.999278	0.46519	D	2.085	0.57729	M	0.15	0.60734	T	-4.14	0.75220	D	0.223	0.25989	-0.9367	0.43134	T	0.102	0.37618	T	9	0.006267786	0.00141	T	.	.	.	0.164	0.42212	.	.	0.566480848757	0.56312	0.23921984831315707	0.23835	0.197794194553	0.22146	0.365869522095	0.20238	T	0.038841	0.24981	T	-0.533268	0.00367	T	-0.529384	0.19348	T	0.0334869018408492	0.02551	T	0.814619	0.46840	T	0.09921295	0.23412	0.1470421	0.34814	0.09921295	0.23412	0.1470421	0.34813	-6.264	0.48437	T	0.3520516181705658	0.44918	0.061	0.01859	B	.;.;.;.	.;.;.;.	1.016440	0.13959	10.52	0.7459366691130529	0.10753	0.23550	0.22112	N	AEFDBCI	0.074402	0.14912	N	-0.932438323723357	0.10090	0.4805304	-1.01920658279463	0.09363	0.4653946	0.999990288726087	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.82	-1.6	0.07977	0.462000	0.21667	-0.890000	0.07031	-0.313000	0.06017	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.0:0.5087:0.0:0.4913	11.431	0.49282	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1270.33	35	chr1	150558055	.	C	T	1270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.825;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	18	0	1	0
chr1	150799246	150799246	C	T	exonic	CTSK	.	nonsynonymous SNV	CTSK:NM_000396:exon7:c.G812A:p.S271N	Pycnodysostosis, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	277128	not_provided|Pyknodysostosis	MedGen:C3661900|MONDO:MONDO:0009940,MedGen:C0238402,OMIM:265800,Orphanet:763	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0178207357613	7.7e-05	0.000599042	0.0002	0	0.0002	0	0	0.0002	0	6.057e-05	0.0001617	25	154602	rs183135762	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0.0001	3.827e-05	0	1.872e-05	0.0003	0.0002	0.0001	4.639e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0004	0.0005	0	0.049	0.39820	D	0.051	0.47828	T	0.002	0.09854	B	0.005	0.11217	B	0.026012	0.25991	N	0.476958	0.999999	0.08975	N	1.08	0.27187	L	-2.25	0.87272	D	-1.5	0.36586	N	0.141	0.14054	-0.5829	0.65502	T	0.336	0.70264	T	10	0.025010794	0.00709	T	0.017821	0.39666	T	0.236	0.53931	.	.	0.914895983297	0.91403	0.6315600216183207	0.63090	0.298731914825	0.32256	0.356705665588	0.18905	T	0.496744	0.81891	T	-0.301913	0.08481	T	-0.365477	0.37417	T	0.0535604034477482	0.06115	T	0.835916	0.50694	T	0.4300035	0.62752	0.19892488	0.43749	0.4300035	0.62753	0.19892488	0.43748	-6.666	0.51554	T	0.12468629809258125	0.12273	0.124	0.26200	B	.	.	2.495369	0.32200	18.97	0.990916647328139	0.52222	0.22867	0.21889	N	AEFDBI	0.203152	0.32969	N	-0.50903655624595	0.21786	1.158802	-0.417900160854563	0.24471	1.34025	0.999997451147527	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	0.339000	0.19617	2.666000	0.33914	0.599000	0.40250	0.000000	0.06391	0.027000	0.21108	0.870000	0.41412	0.0:0.8614:0.1386:0.0	15.508	0.75494	65	0.97253	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Papain-like cysteine endopeptidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	42	chr1	150799246	.	C	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.36;DP=845;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.098;SOR=0.781	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1466	18	0	1	0
chr1	150817408	150817408	C	T	exonic	ARNT	.	nonsynonymous SNV	ARNT:NM_001197325:exon15:c.G1486A:p.D496N,ARNT:NM_178427:exon15:c.G1486A:p.D496N,ARNT:NM_001286036:exon16:c.G1531A:p.D511N,ARNT:NM_001350225:exon16:c.G1528A:p.D510N,ARNT:NM_001350226:exon16:c.G1525A:p.D509N,ARNT:NM_001668:exon16:c.G1531A:p.D511N,ARNT:NM_001286035:exon17:c.G1489A:p.D497N,ARNT:NM_001350224:exon17:c.G1504A:p.D502N	.	428	1078	16	0	0	16	0.00736648	.	.	.	706678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	.	0.0070	0.00159744	0.0056	0.0020	0.0039	0.0001	0.0060	0.0081	0.0121	0.0013	0.0056856	879	154602	rs1805133	0.0072	0.0072	0.0072	0.0071	0.0148	0.0071	0.0070	0.0122	0.0113	0.0011	0.0053	0.0057	2.519e-05	0.0054	0.0148	0.0082	0.0068	0.0015	0.0059	0.0059	0.0060	0.0058	0.0082	0.0056	0.0054	0.0077	0.0074	0.0013	0.0493	0.0075	0.0043	0.0002	0.0076	0.0102	0.0082	0.0090	0.0008	0.01	0.57480	D	0.326	0.19304	T	0.258	0.34363	B	0.064	0.35348	B	0.961696	0.08219	N	0.979822	0.999997	0.58761	D	1.67	0.42885	L	3.56	0.05311	T	-0.55	0.17417	N	0.165	0.18103	-0.9027	0.47705	T	0.014	0.05753	T	10	0.004409611	0.00090	T	.	.	.	0.188	0.46444	.	.	0.52252745396	0.51898	0.2835616015415626	0.28269	0.292392038772	0.31654	0.436583131552	0.30110	T	0.15618	0.49824	T	-0.627418	0.00099	T	-0.666628	0.07826	T	0.0260590446103604	0.01415	T	0.952105	0.81652	D	0.07795843	0.17724	0.073027186	0.15823	0.07795843	0.17724	0.073027186	0.15822	-2.289	0.04923	T	.	.	0.097	0.20934	B	.;.;.;.	.;.;.;.	3.839721	0.55556	23.6	0.99804563029070648	0.88906	0.98663	0.85295	D	AEFDBI	0.479708	0.52174	N	0.228845668744077	0.52600	3.433292	0.35911990172889	0.59059	4.080645	0.999999999890436	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	4.990000	0.63609	5.964000	0.51876	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.605	0.95571	66	0.97223	.;.;.;.	.	.	.	.	rs1805133	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.009511	0.026316	0.000000	0.008621	0.018293	0.003788	0.02632	963.33	33	chr1	150817408	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.175;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr1	150966805	150966805	C	T	exonic	CERS2	.	nonsynonymous SNV	CERS2:NM_022075:exon9:c.G799A:p.V267I,CERS2:NM_181746:exon9:c.G799A:p.V267I	.	416	1100	6	0	0	6	0.00271985	.	.	.	2809244	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.259	0.0861433383445	0.0052	0.00139776	0.0044	0.0013	0.0009	0	0.0060	0.0067	0.0077	0.0008	0.0044049	681	154602	rs149992226	0.0057	0.0057	0.0059	0.0056	0.0066	0.0056	0.0056	0.0065	0.0064	0.0009	0.0021	0.0007	2.519e-05	0.0087	0.0050	0.0066	0.0056	0.0008	0.0041	0.0041	0.0039	0.0042	0.0062	0.0038	0.0037	0.0057	0.0055	0.0010	0.0110	0.0027	0.0006	0	0.0087	0	0.0062	0.0033	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.082	0.24665	B	0.016	0.17743	B	0.045501	0.23530	N	0.432065	0.506783	0.35111	D	0.955	0.23872	L	-2.02	0.85542	D	0.4	0.03463	N	0.101	0.10483	-0.9662	0.37974	T	0.141	0.46091	T	10	0.009523839	0.00215	T	0.086143	0.74676	D	0.259	0.57090	.	.	0.506211326956	0.50260	0.3773828193069793	0.37653	0.473242482484	0.46558	0.335771918297	0.15805	T	0.297313	0.66992	T	-0.389189	0.02723	T	-0.326552	0.41851	T	0.00465204864061136	0.00050	T	0.681532	0.29028	T	0.026583321	0.01734	0.03311632	0.02154	0.026583321	0.01734	0.03311632	0.02154	-1.59	0.01959	T	.	.	0.082	0.08512	B	.;.;.;.	.;.;.;.	0.255302	0.06340	2.804	0.85889374377096495	0.16177	0.34362	0.25049	N	AEFBHCI	0.328095	0.42887	N	-1.47447815784535	0.02032	0.08928095	-1.36004425520012	0.03689	0.1725863	0.999635956049564	0.41205	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	-0.581	0.11126	-0.256000	0.08778	-0.523000	0.08678	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.0:0.6921:0.0:0.3079	12.443	0.54971	117	0.95266	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1731.33	41	chr1	150966805	.	C	T	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=770;ExcessHet=0;FS=2.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.193;SOR=0.489	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1334	18	0	1	0
chr1	150988117	150988117	G	A	exonic	ANXA9	.	nonsynonymous SNV	ANXA9:NM_003568:exon11:c.G724A:p.G242R	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	.	0.0064	0.00179712	0.0052	0.0018	0.0035	0	0.0062	0.0075	0.0121	0.0014	0.0053557	828	154602	rs149528939	0.0069	0.0069	0.0069	0.0069	0.0161	0.0068	0.0067	0.0135	0.0125	0.0010	0.0050	0.0026	0	0.0051	0.0161	0.0080	0.0066	0.0016	0.0057	0.0057	0.0058	0.0056	0.0080	0.0054	0.0053	0.0075	0.0073	0.0013	0.0493	0.0075	0.0012	0.0002	0.0076	0.0068	0.0080	0.0090	0.0008	0.262	0.16466	T	0.064	0.44905	T	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	3.47	0.05188	T	-2.3	0.51157	N	0.679	0.68603	-1.1888	0.00255	T	0.042	0.18160	T	10	0.007032603	0.00160	T	.	.	.	0.237	0.54074	0.539	0.65018	0.507748507896	0.50414	0.49330222328118417	0.49251	0.378643050212	0.39270	0.466411709785	0.34190	T	0.013643	0.11764	T	-0.3542	0.04468	T	-0.274453	0.47368	T	0.0401345116530294	0.03714	T	0.783522	0.42019	T	0.2142851	0.43830	0.20324847	0.44392	0.2142851	0.43830	0.20324847	0.44391	-7.191	0.55416	T	.	.	0.204	0.42990	B	.	.	4.781612	0.77512	26.7	0.99897181367402632	0.96971	0.88183	0.47998	D	AEFI	0.672975	0.63919	D	0.555645996826393	0.70425	5.499874	0.443698535827812	0.64315	4.683674	0.999859448279679	0.44174	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.31	5.31	0.75063	4.678000	0.61331	11.293000	0.92086	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	14.469	0.67085	154	0.93967	.	.	.	.	.	rs149528939	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.010870	0.026316	0.000000	0.008621	0.012195	0.003788	0.02632	2753.33	34	chr1	150988117	.	G	A	2753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=891;ExcessHet=0;FS=5.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.322;SOR=0.415	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr1	150994697	150994697	C	T	exonic	ANXA9	.	stopgain	ANXA9:NM_003568:exon13:c.C973T:p.Q325X	.	.	.	.	.	.	.	.	0.9998	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	3.302e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs189667604	6.158e-06	6.156e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	0.0001	7.817e-05	0	0.0002	0	0	0	0	0	0	0	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0003	8.14e-06	5.14e-06	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000284	0.46274	D	0.145905	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.251	0.28381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409287	0.90439	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.572318	0.99792	48	0.99600168376138287	0.74160	0.97348	0.74182	D	AEFBI	0.835755	0.75361	D	0.835120064643327	0.88244	9.506539	0.702655911572079	0.82578	7.802413	0.999999767671711	0.74766	0.752111	0.98806	0	0.389834	0.06304	2	0.658983	0.55881	0	0.664235	0.64389	0	.	.	5.0	5.0	0.66209	4.333000	0.59070	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.790	0.78117	161	0.93754	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	967.33	34	chr1	150994697	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.363;SOR=0.751	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	151024644	151024644	G	C	exonic	PRUNE1	.	nonsynonymous SNV	PRUNE1:NM_001303242:exon4:c.G369C:p.E123D,PRUNE1:NM_021222:exon4:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	2023929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0492538015413	.	.	8.243e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs762922023	6.847e-07	6.841e-07	1.363e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.133	0.26409	T	0.159	0.31527	T	0.997	0.70673	D	0.934	0.66904	D	0.000005	0.62929	D	0.061924	0.999694	0.81001	D	.	.	.	2.54	0.13916	T	-1.86	0.43524	N	0.432	0.47115	-1.0346	0.18983	T	0.057	0.23866	T	10	0.31114167	0.48586	T	0.049254	0.63732	D	0.243	0.54921	0.613	0.74652	0.46512379133	0.46136	0.54455422651914	0.54381	0.582502634444	0.54005	0.522631585598	0.41997	T	0.338585	0.70783	T	-0.130855	0.31359	T	-0.200039	0.54642	T	0.757689682975081	0.43720	D	0.818818	0.47619	T	0.24833967	0.47820	0.1842602	0.41467	0.24833967	0.47820	0.1842602	0.41466	-8.0	0.61071	D	0.3584302233818627	0.45508	0.431	0.61265	A	.;.	.;.	3.343336	0.46082	22.2	0.99673933885465638	0.78782	0.69717	0.34299	D	ALL	0.552636	0.56422	D	0.565104601960001	0.71006	5.585838	0.530325528024756	0.70041	5.447149	0.99999999999998	0.74766	0.77792	0.99625	0	0.637152	0.57089	0	0.854111	0.99894	0	0.629945	0.49285	0	.	.	5.76	4.85	0.62375	3.049000	0.49560	6.435000	0.55641	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0811:0.0:0.9189:0.0	12.399	0.54736	118	0.95237	.;DDH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1323.33	36	chr1	151024644	.	G	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.089;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=2.33;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	18	0	1	0
chr1	151286518	151286518	C	T	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon2:c.C227T:p.P76L,ZNF687:NM_020832:exon2:c.C227T:p.P76L,ZNF687:NM_001304763:exon3:c.C227T:p.P76L	Paget disease of bone 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3047727	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00566967924234	7.7e-05	.	3.299e-05	0.0002	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs142824299	1.505e-05	1.573e-05	1.497e-05	1.513e-05	0.0001	9.85e-06	8.41e-06	5.849e-05	3.758e-05	0.0001	2.236e-05	0	2.519e-05	0	0	6.295e-06	4.967e-05	5.797e-05	5.913e-05	5.91e-05	5.138e-05	6.725e-05	0.0002	3.077e-05	2.21e-05	9.564e-05	6.962e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.166	0.23183	T	0.131	0.34596	T	0.002	0.09854	B	0.001	0.04355	B	0.408882	0.13023	N	0.588529	0.999927	0.51308	D	0.85	0.21244	L	5.63	0.00800	T	-1.78	0.42001	N	0.107	0.10056	-0.9472	0.41448	T	0.002	0.00497	T	10	0.05075088	0.04854	T	0.00567	0.14681	T	0.044	0.11924	.	.	0.102598925029	0.09809	0.13247054864600022	0.13171	0.324849284721	0.34638	0.331790924072	0.15205	T	0.024215	0.18341	T	-0.469771	0.00853	T	-0.675901	0.07236	T	0.0102369439710938	0.00139	T	0.70273	0.31245	T	0.022414839	0.00902	0.027591357	0.00923	0.022414839	0.00902	0.027591357	0.00923	-3.603	0.17900	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	0.829201	0.12004	8.563	0.80485649908073054	0.13225	0.58219	0.30583	D	AEFGBCI	0.245503	0.36642	N	-0.722006694729122	0.15404	0.7760131	-0.740472260463188	0.15956	0.8417947	0.990903794458768	0.32307	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.32	2.25	0.27340	1.319000	0.33260	1.178000	0.24674	-0.242000	0.07441	0.006000	0.17386	0.001000	0.17328	0.038000	0.14061	0.3654:0.5224:0.0:0.1122	5.019	0.13692	90	0.96275	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	33	chr1	151286518	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=724;ExcessHet=0;FS=6.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.21;SOR=1.325	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr1	151369023	151369023	C	T	exonic	SELENBP1	.	nonsynonymous SNV	SELENBP1:NM_001258289:exon4:c.G467A:p.R156Q,SELENBP1:NM_003944:exon4:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0384412378673	0.0004	0.000998403	0.0003	0.0008	8.655e-05	0	0.0015	0.0001	0	0.0006	0.0002587	40	154602	rs150747769	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0011	8.965e-05	0	0	0.0020	0.0017	8.74e-05	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0001	0	0	0.0019	0	0.0002	0	0.0004	0.007	0.59928	D	0.017	0.62352	D	0.941	0.52883	P	0.603	0.50895	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	2.56	0.13673	T	-3.14	0.64019	D	0.828	0.82358	-0.9498	0.41006	T	0.073	0.29675	T	10	0.037467897	0.02103	T	0.038441	0.58221	D	0.238	0.54217	.	.	0.554156219314	0.55073	0.5695218969500822	0.56880	0.447474446521	0.44600	0.456014692783	0.32766	T	0.263675	0.63537	T	-0.257937	0.13143	T	-0.199633	0.54681	T	0.0803476327937628	0.10032	T	0.976802	0.92442	D	0.530819	0.68877	0.30855608	0.56873	0.530819	0.68878	0.30855608	0.56872	-9.15	0.68657	D	0.2606993172479604	0.35203	0.115	0.26357	B	.;.;.	.;.;.	4.531131	0.71134	25.6	0.9994273189516597	0.99848	0.96507	0.69485	D	AEFDBI	0.930753	0.91852	D	0.597085901411102	0.72992	5.893874	0.524974175573709	0.69674	5.39439	0.999999995618219	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.95	4.03	0.46115	5.465000	0.66456	5.794000	0.49890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.364000	0.25977	0.0:0.8479:0.1521:0.0	14.076	0.64414	225	0.91282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1690.33	40	chr1	151369023	.	C	T	1690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.07;SOR=0.636	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	151405611	151405611	G	A	exonic	POGZ	.	stopgain	POGZ:NM_145796:exon17:c.C3139T:p.R1047X,POGZ:NM_207171:exon17:c.C3265T:p.R1089X,POGZ:NM_001194938:exon18:c.C3238T:p.R1080X,POGZ:NM_001194937:exon19:c.C3397T:p.R1133X,POGZ:NM_015100:exon19:c.C3424T:p.R1142X	White-Sutton syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	789842	Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome|not_provided	MONDO:MONDO:0014606,MedGen:C4225351,OMIM:616364,Orphanet:468678|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000015	0.62929	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.397	0.48689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	8.358904	0.97470	37	0.99673025631876644	0.78717	0.95623	0.65465	D	AEFDGBCI	0.160166	0.28607	N	0.726159225383348	0.81348	7.500963	0.601966466745956	0.75084	6.248105	0.982092505015691	0.30352	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	4.94	0.64645	1.871000	0.39176	8.638000	0.77881	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6922:0.3078	13.297	0.59740	191	0.92559	.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2233.33	34	chr1	151405611	.	G	A	2233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=879;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.487;SOR=1.04	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1423	18	0	1	0
chr1	151519198	151519198	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C679T:p.R227W	.	426	1091	5	0	0	5	0.00228624	.	.	.	745684	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.267	0.0439846519805	0.0012	0.000399361	0.0017	0.0004	0.0003	0	0.0060	0.0020	0.0022	0.0012	0.001423	220	154602	rs140625740	0.0015	0.0015	0.0016	0.0015	0.0016	0.0015	0.0015	0.0015	0.0015	0.0002	0.0001	0	0.0001	0.0048	0.0005	0.0016	0.0011	0.0012	0.0011	0.0011	0.0010	0.0013	0.0014	0.0010	0.0009	0.0012	0.0011	0.0004	0	0.0002	0	0	0.0043	0	0.0014	0.0005	0.0012	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.612859	0.10850	N	0.836950	0.999998	0.08975	N	.	.	.	0.18	0.70833	T	-2.24	0.51157	N	0.42	0.45992	-0.9628	0.38645	T	0.156	0.48721	T	9	0.0064674616	0.00146	T	0.043985	0.61262	D	0.267	0.58126	.	.	0.41921206133	0.41539	0.2763284620869512	0.27545	0.59421333327	0.54743	0.342618584633	0.16830	T	0.076366	0.35401	T	-0.285856	0.10055	T	-0.196619	0.54967	T	0.0155587186721088	0.00354	T	0.881212	0.60074	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.35267	B	.;.	.;.	4.031835	0.59621	24.1	0.99884106669278849	0.95970	0.39350	0.26193	N	AEFBI	0.251315	0.37120	N	-0.154882964167747	0.35027	2.006796	-0.249320509203521	0.29795	1.672212	0.128870168291356	0.17049	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.18	4.27	0.50009	0.324000	0.19357	1.389000	0.26100	0.596000	0.33519	0.006000	0.17386	0.777000	0.26748	0.837000	0.39485	0.0:0.7712:0.1492:0.0795	9.303	0.37020	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2718.33	34	chr1	151519198	.	C	T	2718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=886;ExcessHet=0;FS=2.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.17;SOR=0.664	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	151530113	151530113	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon12:c.G2311A:p.E771K	.	421	1096	5	0	0	5	0.00227583	0.9388	0.748	.	696092	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.439	.	0.0087	0.00139776	0.0070	0.0018	0.0041	0	0.0168	0.0096	0.0115	0.0010	0.0067981	1051	154602	rs41272459	0.0089	0.0089	0.0091	0.0087	0.0098	0.0088	0.0088	0.0096	0.0096	0.0017	0.0056	0.0108	0	0.0163	0.0090	0.0098	0.0096	0.0012	0.0067	0.0067	0.0064	0.0070	0.0090	0.0063	0.0062	0.0084	0.0082	0.0024	0	0.0056	0.0104	0	0.0153	0	0.0090	0.0090	0.0008	0.027	0.46513	D	0.026	0.55759	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	-0.3	0.67874	T	-3.27	0.65512	D	0.735	0.73555	-0.2561	0.76194	T	0.399	0.75095	T	10	0.007887691	0.00179	T	.	.	.	0.439	0.74306	.	.	0.669235589889	0.66644	0.5926339480291626	0.59193	0.683269447753	0.60155	0.443110078573	0.31002	T	.	.	.	-0.337199	0.05585	T	-0.250174	0.49799	T	0.00806716884766421	0.00096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32945	B	.	.	5.339576	0.89592	31	0.99930201472110991	0.99334	0.99036	0.90290	D	AEFDGBI	0.915019	0.87922	D	0.748244193937756	0.82790	7.850594	0.724415727107518	0.84231	8.235202	0.999999999062965	0.74766	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	7.278000	0.77961	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.0:0.0:1.0:0.0	17.448	0.87477	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007560	0.000000	0.005435	0.011696	0.000000	0.017241	0.015337	0.000000	0.02632	1669.33	34	chr1	151530113	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=773;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.792;SOR=0.433	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1451	18	0	1	0
chr1	151534030	151534030	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon15:c.G2798A:p.R933Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0137856972932	7.7e-05	0.000199681	0.0002	0	8.734e-05	0.0015	0	1.564e-05	0	0.0002	0.0001229	19	154602	rs370928424	9.581e-05	9.577e-05	9.124e-05	0.0001	0.0027	8.246e-05	7.786e-05	0.0023	0.0021	5.975e-05	4.474e-05	0	0.0027	0	0	1.439e-05	1.657e-05	0.0002	7.881e-05	7.875e-05	6.426e-05	9.402e-05	0.0010	4.494e-05	3.51e-05	0.0004	0.0002	7.22e-05	0	0	0	0.0010	0	0	2.94e-05	0	0.0004	0.293	0.14843	T	0.426	0.13872	T	.	.	.	.	.	.	0.248770	0.15555	N	0.629398	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.49	0.02993	N	0.13	0.12484	-0.9609	0.39012	T	0.050	0.21261	T	10	0.010905385	0.00241	T	0.013786	0.33457	T	0.100	0.28662	.	.	0.535820281431	0.53231	0.0370523453269771	0.03652	0.169914134058	0.19155	0.256351858377	0.04465	T	.	.	.	-0.504185	0.00542	T	-0.527082	0.19580	T	0.00267476440974893	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.	.	0.315454	0.06903	3.442	0.90563400646358139	0.19818	0.03420	0.08548	N	AEFBI	0.091670	0.18565	N	-1.47203192596936	0.02049	0.09008674	-1.4669874346692	0.02620	0.1208093	0.998528455694742	0.37129	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.25	-4.03	0.03752	-0.056000	0.11744	-0.904000	0.06980	-0.119000	0.14319	0.001000	0.13787	0.000000	0.08366	0.262000	0.23568	0.4807:0.0:0.2266:0.2926	5.505	0.16139	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	34	chr1	151534030	.	G	A	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=698;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.758;SOR=0.801	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1361	18	0	1	0
chr1	151535055	151535055	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon16:c.G2918A:p.R973Q	.	.	.	.	.	.	.	.	.	.	.	696093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.327	.	0.0063	0.00738818	0.0015	0.0180	0.0003	0	0	0	0.0011	6.305e-05	0.0014812	229	154602	rs79234959	0.0006	0.0006	0.0007	0.0004	0.0206	0.0005	0.0005	0.0193	0.0188	0.0206	0.0005	0	2.519e-05	0	0.0002	6.297e-05	0.0009	6.959e-05	0.0057	0.0057	0.0059	0.0055	0.0196	0.0054	0.0053	0.0184	0.0180	0.0196	0	0.0028	0	0	0	0	7.351e-05	0.0028	0	0.434	0.09430	T	0.39	0.15506	T	.	.	.	.	.	.	0.000003	0.62929	D	0.107097	0.984	0.40074	D	.	.	.	-1.07	0.76948	T	-0.15	0.09297	N	0.564	0.58798	-0.6732	0.61683	T	0.239	0.60643	T	10	0.010561675	0.00234	T	.	.	.	0.327	0.64926	.	.	0.627711000292	0.62467	0.05023728456352693	0.04966	0.588653503062	0.54405	0.360849320889	0.19509	T	.	.	.	-0.414658	0.01852	T	-0.352808	0.38884	T	0.0543260286052893	0.06244	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.11941	B	.	.	4.241585	0.64317	24.7	0.99922791452777893	0.98852	0.79368	0.39316	D	AEFDGBHCI	0.589159	0.58615	D	0.239520682646935	0.53122	3.482653	0.340839712645092	0.57958	3.963733	0.99999999999751	0.74766	0.712529	0.81865	0	0.703908	0.78521	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.4	5.4	0.77957	2.058000	0.41001	7.527000	0.59855	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.913	0.88856	450	0.79359	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	521.33	34	chr1	151535055	.	G	A	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=698;ExcessHet=0;FS=0.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=-0.599;SOR=0.54	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1238	18	0	1	0
chr1	151760076	151760076	T	C	exonic	MRPL9	.	nonsynonymous SNV	MRPL9:NM_001300733:exon6:c.A676G:p.M226V,MRPL9:NM_031420:exon7:c.A778G:p.M260V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0042	0.00579073	0.0017	0.0163	0.0004	0	0	0.0005	0.0022	0.0001	0.0016882	261	154602	rs141949185	0.0008	0.0008	0.0008	0.0007	0.0176	0.0008	0.0007	0.0164	0.0160	0.0176	0.0008	0.0013	2.519e-05	1.872e-05	0.0057	0.0003	0.0013	0.0002	0.0045	0.0045	0.0047	0.0044	0.0151	0.0043	0.0041	0.0141	0.0137	0.0151	0	0.0024	0.0006	0	0	0.0034	0.0002	0.0043	0	0.944	0.02327	T	0.757	0.04686	T	0.0	0.02946	B	0.0	0.01387	B	0.933127	0.08406	N	0.971697	1	0.08975	N	0.06	0.08197	N	1.59	0.30133	T	0.29	0.04456	N	0.055	0.21319	-0.9719	0.36798	T	0.011	0.04227	T	10	0.0037079453	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0846915920261	0.08053	0.39853415049917384	0.39768	0.549432049578	0.51845	0.287247717381	0.08523	T	0.00433	0.03739	T	-0.657889	0.00065	T	-0.705464	0.05532	T	0.00341277397713941	0.00036	T	0.546745	0.18722	T	0.028189324	0.02119	0.034164958	0.02434	0.028189324	0.02119	0.034164958	0.02434	-1.612	0.02010	T	.	.	0.061	0.01161	B	.;.	.;.	-0.674758	0.01381	0.079	0.58552991104812757	0.06019	0.03022	0.07900	N	AEFBI	0.066942	0.13135	N	-1.28209970536581	0.03890	0.1746372	-1.35437523917978	0.03755	0.1757956	0.97026039831962	0.29194	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.74	-4.12	0.03650	-1.235000	0.03037	-4.513000	0.02118	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1373:0.1721:0.4189:0.2717	2.022	0.03297	291	0.88420	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.016304	0.008772	0.100000	0.008621	0.000000	0.000000	0.02632	1323.33	34	chr1	151760076	.	T	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=0.108;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	18	0	1	0
chr1	151763118	151763118	T	A	exonic	MRPL9	.	nonsynonymous SNV	MRPL9:NM_001300733:exon2:c.A182T:p.K61M,MRPL9:NM_031420:exon2:c.A182T:p.K61M	.	417	1100	5	0	0	5	0.00226757	.	.	.	3450396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0130243449479	0.0002	.	5.869e-05	0	0.0002	0	0	4.583e-05	0	0.0001	4.53e-05	7	154602	rs149861640	6.158e-05	6.156e-05	5.037e-05	7.289e-05	0.0014	5.095e-05	4.716e-05	0.0007	0.0005	0	0.0001	0	0	0	0.0014	4.857e-05	0.0001	0.0002	5.259e-05	5.254e-05	6.426e-05	4.037e-05	0.0002	2.558e-05	1.831e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.015	0.52492	D	0.026	0.56640	D	0.974	0.57829	D	0.711	0.54536	P	0.003062	0.35480	N	0.270317	0.998969	0.81001	D	1.445	0.36358	L	1.35	0.34841	T	-1.87	0.43717	N	0.443	0.48227	-0.9758	0.35948	T	0.104	0.38243	T	10	0.3513127	0.51984	T	0.013024	0.32090	T	0.167	0.42761	.	.	0.442875378763	0.43908	0.6351475000353227	0.63448	1.55586283606	0.87969	0.500524759293	0.38901	T	0.044378	0.26799	T	-0.227764	0.16946	T	-0.309898	0.43669	T	0.457038789987564	0.31056	T	0.870713	0.57812	D	0.5449872	0.69676	0.45416573	0.68260	0.5449872	0.69677	0.45416573	0.68260	-6.456	0.49945	T	.	.	0.235	0.58750	B	.;.	.;.	4.816658	0.78413	26.9	0.99509206736800704	0.68499	0.78871	0.38980	D	ALL	0.677626	0.64226	D	0.550405242453032	0.70108	5.453163	0.540959818411614	0.70769	5.554363	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.84	4.84	0.62125	4.712000	0.61578	4.920000	0.46033	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	10.766	0.45494	293	0.88320	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	920.33	33	chr1	151763118	.	T	A	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.962;DP=729;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.29;SOR=0.518	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	151802658	151802658	G	A	exonic	LINGO4	.	nonsynonymous SNV	LINGO4:NM_001004432:exon2:c.C47T:p.P16L	.	.	.	.	.	.	.	.	.	.	.	2294077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00768651612021	.	.	3.763e-05	0.0002	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs772746600	1.795e-05	2.121e-05	8.489e-06	2.77e-05	0.0002	1.232e-05	1.041e-05	0.0001	0.0001	0	2.891e-05	0	2.561e-05	0	0	7.404e-06	0	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.377	0.11298	T	0.388	0.15602	T	0.0	0.02946	B	0.0	0.01387	B	0.033242	0.24922	N	0.288673	0.999995	0.08975	N	0.215	0.09537	N	0.33	0.58323	T	0.25	0.04456	N	0.181	0.19593	-0.9847	0.33903	T	0.038	0.16203	T	10	0.13422936	0.25545	T	0.007687	0.20404	T	0.084	0.24469	0.449	0.50957	0.230578612272	0.22657	0.4312595266295038	0.43042	0.0985995298623	0.11141	0.339584469795	0.16376	T	0.093935	0.39314	T	-0.327314	0.06317	T	-0.482238	0.24209	T	0.0380687892054498	0.03345	T	0.510149	0.16261	T	0.025980184	0.01598	0.048534974	0.07229	0.025980184	0.01597	0.048534974	0.07229	-1.632	0.02058	T	.	.	0.082	0.08754	B	.	.	0.717293	0.10865	7.539	0.59459941285984841	0.06229	0.50374	0.28648	D	AEFBI	0.110591	0.21926	N	-1.05699534059151	0.07450	0.3461588	-1.02789560079188	0.09174	0.4549635	0.00765021108558421	0.11513	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.44	-0.794	0.10367	1.912000	0.39577	0.622000	0.20140	-0.119000	0.14319	0.887000	0.31133	0.057000	0.21958	0.022000	0.11911	0.3576:0.1333:0.5091:0.0	6.201	0.19791	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	640.33	33	chr1	151802658	.	G	A	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=682;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.42;SOR=0.841	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	151811329	151811329	G	C	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon9:c.C1328G:p.A443G,RORC:NM_005060:exon10:c.C1391G:p.A464G	Immunodeficiency 42, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	696095	not_provided|RORC-related_disorder|Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.538	.	0.0042	0.00419329	0.0019	0.0119	0.0032	0	0	0.0010	0.0022	0	0.0018628	288	154602	rs113195254	0.0010	0.0010	0.0010	0.0009	0.0130	0.0009	0.0009	0.0120	0.0116	0.0130	0.0035	0.0080	2.521e-05	0	0.0040	0.0004	0.0022	5.806e-05	0.0047	0.0047	0.0048	0.0045	0.0132	0.0044	0.0043	0.0123	0.0120	0.0132	0	0.0044	0.0089	0	0	0.0068	0.0007	0.0047	0	0.005	0.63226	D	0.065	0.45110	T	0.349	0.33622	B	0.378	0.43788	B	0.207358	0.16450	U	0.560202	0.637315	0.30646	N	1.645	0.42016	L	-3.63	0.95111	D	-2.18	0.49187	N	0.565	0.59816	0.417	0.89351	D	0.732	0.90830	D	10	0.010866195	0.00240	T	.	.	.	0.538	0.80664	.	.	0.601883268742	0.59870	0.1283561491373287	0.12760	0.596854558386	0.54905	0.457960993052	0.33030	T	0.565888	0.85546	D	-0.176798	0.24213	T	-0.0150583	0.69354	D	0.0272615386736068	0.01582	T	0.90231	0.65919	D	0.5866228	0.71968	0.44390666	0.67590	0.650513	0.75393	0.40550008	0.64949	-2.857	0.08818	T	.	.	0.088	0.14614	B	.;.	.;.	4.500275	0.70384	25.5	0.99755664678440503	0.84615	0.95035	0.63201	D	AEFDGBIJ	0.725169	0.67424	D	0.193142774083986	0.50868	3.272972	0.279340768023313	0.54333	3.598769	0.999999920535032	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.72	4.72	0.59248	4.666000	0.61248	8.620000	0.77807	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.858000	0.40661	0.0:0.1707:0.8293:0.0	12.322	0.54312	572	0.70300	.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.020202	0.027174	0.005848	0.050000	0.017241	0.000000	0.000000	0.02632	1112.33	34	chr1	151811329	.	G	C	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.677;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.082;SOR=0.656	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	151838010	151838010	G	A	exonic	C2CD4D	.	nonsynonymous SNV	C2CD4D:NM_001136003:exon2:c.C980T:p.T327M	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0083	0.00938498	0.0043	0.0399	0	0	0	0.0003	0	0	0.0010479	162	154602	rs188475396	0.0009	0.0009	0.0011	0.0008	0.0311	0.0009	0.0009	0.0295	0.0289	0.0311	0.0029	0	2.799e-05	0	0.0023	6.303e-05	0.0021	7.575e-05	0.0094	0.0094	0.0100	0.0088	0.0329	0.0090	0.0088	0.0315	0.0309	0.0329	0	0.0027	0	0	0	0	0.0001	0.0071	0	0.098	0.30800	T	0.126	0.35205	T	0.066	0.23586	B	0.004	0.10090	B	.	.	.	.	0.988275	0.24428	N	0.755	0.19153	N	1.07	0.39586	T	1.41	0.00825	N	0.117	0.10626	-0.9902	0.32551	T	0.018	0.07470	T	9	0.002556473	0.00039	T	.	.	.	0.017	0.02790	.	.	0.144782658237	0.14088	0.45615947111295546	0.45533	.	.	0.513804316521	0.40755	T	0.019997	0.15827	T	-0.588137	0.00172	T	-0.591135	0.13567	T	0.00834957547137285	0.00101	T	0.647135	0.25820	T	0.028158415	0.02112	0.07989786	0.18026	0.028158415	0.02112	0.07989786	0.18026	-6.375	0.49314	T	.	.	0.090	0.12512	B	.	.	2.451482	0.31569	18.78	0.99726292997221944	0.82406	0.35691	0.25360	N	AEFDBI	0.158454	0.28411	N	-0.530983385979491	0.21084	1.116332	-0.402639135783303	0.24920	1.367363	0.999715027219963	0.42101	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.44	1.53	0.22224	2.516000	0.45181	1.438000	0.26503	0.656000	0.54149	0.628000	0.27982	0.007000	0.19602	0.969000	0.54022	0.377:0.0:0.623:0.0	5.475	0.15986	580	0.69689	C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004144	0.007463	0.008065	0.008929	0.000000	0.000000	0.000000	0.000000	0.02632	968.33	37	chr1	151838010	.	G	A	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.113;DP=837;ExcessHet=0;FS=1.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=2.61;SOR=0.472	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1236	18	0	1	0
chr1	151838749	151838749	-	ACAGGTC	exonic	C2CD4D	.	frameshift insertion	C2CD4D:NM_001136003:exon2:c.240_241insGACCTGT:p.S81Dfs*278	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288256328	0.0002	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0006	4.303e-05	0.0001	0.0019	0	0	0.0012	8.968e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.744e-05	9.07e-05	7.028e-05	2.414e-05	0	0	0.0020	0	0	0.0069	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	207.29	17	chr1	151838749	.	A	AACAGGTC	207.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=2.07;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,6:16:99:0|1:151838749_A_AACAGGTC:221,0,402:151838749	18	0	1	0
chr1	151838751	151838751	-	GGGG	exonic	C2CD4D	.	frameshift insertion	C2CD4D:NM_001136003:exon2:c.238_239insCCCC:p.C80Sfs*278	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	.	0	3.84e-05	1	26028	rs757353692	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	4.316e-05	0.0001	0.0020	0	0	0.0012	8.983e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.732e-05	9.06e-05	7.021e-05	2.41e-05	0	0	0.0020	0	0	0.0068	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	207.29	17	chr1	151838751	.	C	CGGGG	207.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.74;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,6:16:99:0|1:151838749_A_AACAGGTC:221,0,403:151838749	18	0	1	0
chr1	151888325	151888325	T	C	exonic	THEM4	.	nonsynonymous SNV	THEM4:NM_053055:exon4:c.A505G:p.M169V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00559105	0.0014	0.0106	0.0021	0.0031	0	0.0001	0.0022	6.074e-05	0.0014359	222	154602	rs141883111	0.0005	0.0005	0.0005	0.0004	0.0096	0.0004	0.0004	0.0087	0.0084	0.0096	0.0016	3.828e-05	0.0017	1.873e-05	0.0016	0.0001	0.0010	6.96e-05	0.0032	0.0032	0.0034	0.0031	0.0105	0.0030	0.0029	0.0097	0.0094	0.0105	0	0.0012	0	0.0027	0	0	0.0002	0.0052	0	0.43	0.09543	T	0.567	0.08900	T	0.0	0.02946	B	0.001	0.04355	B	0.025370	0.01629	N	2.126250	1	0.08975	N	0.01	0.07948	N	1.99	0.21666	T	0.07	0.06138	N	0.139	0.13769	-0.9455	0.41731	T	0.004	0.01400	T	10	0.004502982	0.00093	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.1994266677679822	0.19859	0.0771562087406	0.08669	0.251389354467	0.03915	T	0.205802	0.56497	T	-0.764243	0.00014	T	-0.862597	0.00816	T	0.00207671388048226	0.00021	T	0.20008	0.02257	T	0.088962294	0.20772	0.056345295	0.10049	0.088962294	0.20771	0.056345295	0.10048	-3.981	0.23518	T	.	.	0.076	0.05979	B	.	.	-2.770631	0.00017	0.001	0.10473346751954331	0.00133	0.00348	0.01797	N	AEFBI	0.028815	0.02608	N	-2.97438921741673	0.00001	5.546149e-05	-3.08415386824934	0.00001	4.622676e-05	1.0	0.98316	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.99	-9.97	0.00363	-4.807000	0.00213	-20.000000	0.00162	-1.822000	0.00600	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1005:0.2079:0.1918:0.4998	2.226	0.03741	578	0.69858	Thioesterase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	650.33	36	chr1	151888325	.	T	C	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=690;ExcessHet=0;FS=2.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.122;SOR=0.459	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	18	0	1	0
chr1	152080090	152080090	C	T	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.G718A:p.A240T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945775852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1551.33	35	chr1	152080090	.	C	T	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=740;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=1;QD=14.1;ReadPosRankSum=1.69;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1331	18	0	1	0
chr1	152107590	152107590	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G5627A:p.R1876Q	.	411	1098	13	0	0	13	0.00588502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00474078358961	0.0014	0.000199681	0.0010	0.0002	0.0006	0	0.0002	0.0016	0.0011	0.0003	0.001009	156	154602	rs140720320	0.0012	0.0012	0.0013	0.0012	0.0160	0.0012	0.0012	0.0133	0.0123	0.0009	0.0015	0.0042	0	0.0002	0.0160	0.0012	0.0020	0.0002	0.0013	0.0013	0.0015	0.0012	0.0037	0.0012	0.0011	0.0030	0.0027	0.0004	0	0.0037	0.0026	0	0.0004	0.0102	0.0016	0.0028	0	0.019	0.50132	D	0.366	0.16668	T	0.192	0.29441	B	0.031	0.21939	B	.	.	.	.	0.999731	0.20548	N	1.47	0.36993	L	3.37	0.05847	T	-0.75	0.21003	N	0.151	0.15469	-0.9207	0.45458	T	0.005	0.01688	T	9	0.0036735237	0.00067	T	0.004741	0.11816	T	0.017	0.02790	.	.	0.408172294925	0.40431	0.011184448602133966	0.01078	0.434493501323	0.43583	0.369336128235	0.20736	T	0.001152	0.00660	T	-0.631564	0.00093	T	-0.704602	0.05577	T	0.0209389658760518	0.00795	T	0.559944	0.19565	T	0.048687417	0.08526	0.07052216	0.14992	0.048687417	0.08525	0.07052216	0.14992	-4.541	0.31421	T	.	.	0.142	0.31203	B	.;.	.;.	1.646512	0.21009	15.01	0.99415157189876113	0.63501	0.04363	0.09934	N	AEFDBCI	0.084672	0.17162	N	-0.728557768569995	0.15221	0.7652649	-0.726968794032405	0.16290	0.8610798	0.99994808521316	0.47345	0.455138	0.09556	0	0.563428	0.19063	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.29	1.35	0.21078	-0.184000	0.09693	.	.	-1.095000	0.01525	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.5814:0.0:0.4186	6.567	0.21711	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.011581	0.000000	0.017663	0.017544	0.000000	0.034483	0.000000	0.003788	0.02632	3609.33	44	chr1	152107590	.	C	T	3609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=2887;ExcessHet=0;FS=0.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.656;SOR=0.647	GT:AD:DP:GQ:PL	0/1:177,141:318:99:3623,0,4306	18	0	1	0
chr1	152108944	152108944	G	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C4273G:p.R1425G	.	0	225	0	1	0	2	0.00442478	.	.	.	3331940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00179475900962	.	.	3.32e-05	0	0	0	0	6.01e-05	0	0	3.23e-05	5	154602	rs767497333	4.857e-05	4.857e-05	4.629e-05	5.088e-05	0.0045	3.926e-05	3.605e-05	0.0032	0.0027	0	2.236e-05	0.0004	0	0	0.0045	2.158e-05	0.0001	1.159e-05	3.309e-05	3.293e-05	3.883e-05	2.708e-05	6.588e-05	1.268e-05	8.03e-06	.	.	2.431e-05	0	6.588e-05	0.0006	0	0	0	1.475e-05	0	0	0.184	0.21634	T	0.347	0.17640	T	0.996	0.68779	D	0.92	0.65550	D	.	.	.	.	0.970767	0.25688	N	2.61	0.76335	M	3.3	0.06368	T	-1.35	0.33598	N	0.249	0.28146	-1.0299	0.20487	T	0.021	0.08917	T	9	0.136365	0.25946	T	0.001795	0.03063	T	0.062	0.17934	.	.	0.519623219509	0.51606	0.022509816199930963	0.02202	0.339693499152	0.35915	0.293021202087	0.09364	T	0.004073	0.03483	T	-0.275336	0.11168	T	-0.502826	0.22054	T	0.148108341434885	0.16952	T	0.450355	0.12714	T	0.11755125	0.27710	0.17139907	0.39319	0.11755125	0.27709	0.17139907	0.39318	-7.869	0.60174	D	.	.	0.302	0.53151	B	.;.	.;.	1.866281	0.23708	16.12	0.93358878304865278	0.23098	0.13831	0.18075	N	AEFDBCIJ	0.122284	0.23735	N	0.0780949455629543	0.45442	2.800674	-0.0699603164613235	0.36639	2.134782	0.999983003852526	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.06	3.06	0.34374	0.611000	0.23965	.	.	0.581000	0.30040	0.002000	0.15269	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	9.414	0.37675	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3127.33	44	chr1	152108944	.	G	C	3127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.062;DP=2823;ExcessHet=0;FS=3.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.47;SOR=0.522	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	18	0	1	0
chr1	152109156	152109156	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G4061C:p.R1354P	.	413	1108	1	0	0	1	0.00045106	.	.	.	2809264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0035	0.000599042	0.0048	0.0008	0.0010	0	0.0107	0.0067	0.0033	0.0024	0.0043272	669	154602	rs2496251	0.0056	0.0056	0.0056	0.0055	0.0062	0.0055	0.0054	0.0060	0.0060	0.0005	0.0014	0.0026	0	0.0121	0.0031	0.0062	0.0045	0.0022	0.0049	0.0049	0.0049	0.0049	0.0077	0.0046	0.0045	0.0072	0.0070	0.0011	0	0.0016	0.0038	0.0002	0.0113	0	0.0077	0.0033	0.0021	0.027	0.46513	D	0.181	0.29346	T	0.929	0.51690	P	0.519	0.48163	P	.	.	.	.	1	0.08975	N	2.585	0.75554	M	3.22	0.07024	T	-0.8	0.22078	N	0.124	0.11769	-0.9562	0.39879	T	0.010	0.03582	T	9	0.0045363605	0.00094	T	.	.	.	0.043	0.11576	.	.	0.462982567029	0.45924	0.07006754664862183	0.06943	0.380035322412	0.39378	0.269661903381	0.06097	T	0.001217	0.00709	T	-0.545594	0.00310	T	-0.547089	0.17605	T	0.011077652677947	0.00161	T	0.39586	0.09952	T	0.2541611	0.48443	0.19619653	0.43337	0.20387281	0.42479	0.19896287	0.43754	-7.863	0.60133	D	.	.	0.570	0.68433	P	.;.	.;.	1.562227	0.20012	14.55	0.73799993429520006	0.10460	0.12237	0.17145	N	AEFDBCI	0.192898	0.32004	N	-0.54310570413136	0.20699	1.093177	-0.719353370450807	0.16479	0.8719418	0.999994856197454	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.58	1.51	0.22094	-1.402000	0.02606	.	.	-0.247000	0.07223	0.000000	0.06391	.	.	0.031000	0.13245	0.1994:0.685:0.0:0.1157	5.718	0.17242	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3398.33	44	chr1	152109156	.	C	G	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=2957;ExcessHet=0;FS=3.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.397;SOR=0.929	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	18	0	1	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.02632	1573.33	44	chr1	152109804	.	C	T	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=1445;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.13;MQRankSum=2.14;QD=13;ReadPosRankSum=1.03;SOR=0.634	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr1	152110481	152110481	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2736C:p.E912D	.	.	.	.	.	.	.	.	.	.	.	718222	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	0.0094612221149	0.0022	0.00279553	0.0008	0.0082	0.0006	0	0	4.497e-05	0	6.088e-05	0.000705	109	154602	rs143222885	0.0003	0.0003	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	0	0	0	0.0009	0.0001	0.0005	2.327e-05	0.0023	0.0023	0.0025	0.0022	0.0082	0.0021	0.0021	0.0074	0.0072	0.0082	0	0.0005	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.563	0.09022	T	0.139	0.27501	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.42	0.05507	T	-0.29	0.11728	N	0.101	0.08506	-0.9080	0.47097	T	0.003	0.01092	T	9	0.0032268167	0.00055	T	0.009461	0.24786	T	0.007	0.00512	0.358	0.36060	0.314716216878	0.31082	0.029712328873895966	0.02920	0.241407247156	0.26664	0.282814204693	0.07888	T	0.001129	0.00635	T	-0.593821	0.00159	T	-0.619503	0.11224	T	0.0333703709589778	0.02533	T	0.191181	0.02047	T	0.117134504	0.27617	0.14779852	0.34961	0.117134504	0.27617	0.14779852	0.34961	-6.524	0.50472	T	.	.	0.302	0.53151	B	.;.	.;.	1.622089	0.20720	14.88	0.6886709916982241	0.08791	0.04000	0.09424	N	ALL	0.053280	0.09586	N	-1.07597103092534	0.07088	0.3282463	-1.1388658080374	0.06969	0.3373194	0.999999992807045	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	2.11	1.17	0.19998	0.323000	0.19340	.	.	0.483000	0.22176	0.000000	0.06391	0.001000	0.17328	0.014000	0.10232	0.0:0.8394:0.0:0.1606	6.742	0.22630	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2051.33	44	chr1	152110481	.	C	G	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1377;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.531;SOR=0.889	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr1	152111858	152111860	CTC	-	exonic	TCHH	.	nonframeshift deletion	TCHH:NM_007113:exon3:c.1357_1359del:p.E453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00279553	0.0008	0.0082	0.0006	0	0	4.507e-05	0	6.059e-05	0.0001153	3	26028	rs146085887	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0063	0.0061	0.0071	0.0008	0	0	0	0.0009	0.0001	0.0006	5.832e-05	0.0016	0.0016	0.0016	0.0015	0.0056	0.0014	0.0013	0.0049	0.0046	0.0056	0	0.0005	0	0	0	0	0.0001	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002523	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2026.29	44	chr1	152111857	.	TCTC	T	2026.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=878;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.79;ReadPosRankSum=-0.1;SOR=0.593	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1381	18	0	1	0
chr1	152111908	152111908	-	CTGCTCGTGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1308_1309insGAGGAGGAGAGGCACGAGCAG:p.Q436_K437insEEERHEQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.0318	0.0016	0.0001	0	3.026e-05	0.0022	0.0001	0.0001921	5	26028	rs759642994	0.0005	0.0004	0.0005	0.0004	0.0158	0.0004	0.0004	0.0146	0.0141	0.0158	0.0009	0	0.0002	0	0	3.27e-05	0.0014	0.0002	0.0021	0.0023	0.0023	0.0019	0.0079	0.0019	0.0018	0.0070	0.0067	0.0079	0	0.0010	0	0	0	0	0	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	455.29	44	chr1	152111908	.	T	TCTGCTCGTGCCTCTCCTCCTC	455.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.359;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.74;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.521;SOR=0.628	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1381	18	0	1	0
chr1	152112091	152112091	-	CTGCTCGCGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1125_1126insGAGGAGGAGAGGCGCGAGCAG:p.Q375_Q376insEEERREQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0.0006	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs775651068	0.0004	0.0004	0.0004	0.0004	0.0059	0.0003	0.0003	0.0052	0.0049	0.0059	0.0008	0.0023	0.0010	0	0.0007	0.0001	0.0008	0.0005	6.43e-05	7.653e-05	7.043e-05	5.761e-05	0.0002	2.968e-05	2.114e-05	7.459e-05	4.827e-05	0.0002	0	9.549e-05	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	142.29	29	chr1	152112091	.	G	GCTGCTCGCGCCTCTCCTCCTC	142.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=532;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=-1.181;QD=10.95;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,843	18	0	1	0
chr1	152112151	152112151	-	CTGCTCGCGCCTCAGCTG	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1065_1066insCAGCTGAGGCGCGAGCAG:p.Q355_E356insQLRREQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.719e-05	1.574e-05	1.708e-05	1.73e-05	0.0001	1.125e-05	9.61e-06	4.869e-05	2.967e-05	0.0001	0	0	0	0	0	1.299e-05	4.148e-05	3.601e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	758.68	46	chr1	152112151	.	C	CCTGCTCGCGCCTCAGCTG	758.68	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.063;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.028;MQ=57.53;MQRankSum=-2.273;QD=19.45;ReadPosRankSum=-1.254;SOR=0.551	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1298	17	0	1	1
chr1	152155724	152155724	G	A	exonic	RPTN	.	stopgain	RPTN:NM_001122965:exon3:c.C1375T:p.Q459X	.	454	1060	7	1	0	9	0.00422734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0013	0	0.0003	0	0	0.0003	0	0.0079	0.0010543	163	154602	rs189546119	0.0007	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	3.008e-05	0.0003	0	2.544e-05	1.894e-05	0.0028	0.0002	0.0008	0.0077	0.0005	0.0005	0.0004	0.0005	0.0071	0.0004	0.0003	0.0052	0.0046	2.42e-05	0	0.0007	0	0.0002	0	0.0035	0.0003	0.0005	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126774	0.32019	T	0.0495461	0.73553	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.168517	0.86628	29.0	0.94868377652946201	0.25687	0.09377	0.15145	N	AEFGBI	0.027413	0.02233	N	-0.226976483924446	0.32031	1.802123	-0.563101106031878	0.20458	1.102326	6.4132569329821E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.05	0.19280	0.242000	0.17862	.	.	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0769:0.0:0.5104:0.4127	7.665	0.27593	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002640	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	8907.33	37	chr1	152155724	.	G	A	8907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.049;DP=3012;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.03;QD=12.44;ReadPosRankSum=1.25;SOR=0.73	GT:AD:DP:GQ:PL	0/0:279,0:279:99:0,120,1800	18	0	1	0
chr1	152213699	152213699	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C7930T:p.R2644X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770918728	0.0001	0.0003	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0.0003	0.0003	3.955e-05	0.0003	2.048e-05	0.0002	0.0001	0.0002	8.19e-05	6.863e-05	0.0002	5.196e-05	8.731e-05	0.0004	2.605e-05	1.755e-05	.	.	4.687e-05	0	0	0	0.0002	0	0	3.204e-05	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309596	0.83715	D	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.658900	0.95551	35	0.96517052613061138	0.30101	0.04655	0.10328	N	AEFI	0.026630	0.02034	N	-0.094426089192537	0.37637	2.192537	-0.508011085912625	0.21935	1.189002	1.1932983771932E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.17	-0.316	0.12110	0.643000	0.24440	.	.	0.584000	0.30380	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.3431:0.3082:0.3487	5.990	0.18684	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1660.33	43	chr1	152213699	.	G	A	1660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=2103;ExcessHet=0;FS=53.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.61;MQRankSum=3.07;QD=31.93;ReadPosRankSum=-0.743;SOR=3.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	18	0	1	0
chr1	152213889	152213891	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.7738_7740del:p.H2580del	.	590	927	5	0	0	5	0.00268962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230403957	1.296e-05	0.0004	1.166e-05	1.414e-05	0.0001	5.39e-06	3.46e-06	5.23e-05	3.541e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	4.628e-05	0.0003	1.762e-05	7.797e-05	0.0013	1.753e-05	1.182e-05	0.0004	0.0003	4.282e-05	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	386.79	43	chr1	152213888	.	CGTG	C	386.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1051;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=25.06;MQRankSum=0.771;QD=3;ReadPosRankSum=1.1;SOR=0.672	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	17	0	2	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:333,0:380:99:0|1:152214821_T_A:886,1888,15805:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:326,0:363:99:0|1:152214821_T_A:571,1554,15227:152214821	9	0	10	0
chr1	152214883	152214883	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6746A:p.S2249N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00132765679917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301540689	1.102e-05	0.0002	9.591e-06	1.246e-05	3.488e-05	6.52e-06	5.28e-06	9.26e-06	4.57e-06	0	2.246e-05	0.0002	0	0	0	5.427e-06	0	3.488e-05	2.012e-05	0.0003	2.625e-05	1.372e-05	1.477e-05	5.35e-06	2.48e-06	.	.	0	0	0	0.0006	0	0	0	1.477e-05	0	0	0.197	0.20607	T	0.299	0.20422	T	0.895	0.49247	P	0.431	0.45421	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	2.19	0.18724	T	-0.6	0.17834	N	0.104	0.08786	-0.9952	0.31245	T	0.010	0.03719	T	9	0.09332466	0.16505	T	0.001328	0.01885	T	0.049	0.13647	0.165	0.06955	0.390220360785	0.38632	0.01760573049099549	0.01715	.	.	0.678541243076	0.64059	T	0.015475	0.12973	T	-0.392035	0.02610	T	-0.800907	0.01880	T	0.0331251499003668	0.02491	T	0.20278	0.02336	T	0.029390195	0.02427	0.05816432	0.10702	0.029390195	0.02426	0.05816432	0.10702	-10.373	0.76114	D	.	.	0.379	0.58352	A	.	.	0.259635	0.06380	2.847	0.383186523665693	0.02577	0.00928	0.03601	N	AEFBI	0.029010	0.02662	N	-0.890265841887282	0.11074	0.5324383	-1.00852428203965	0.09597	0.4783846	4.54897909819059E-5	0.03989	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.86	1.94	0.25058	-0.885000	0.04269	.	.	-1.843000	0.00579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7438:0.2562:0.0	7.925	0.29030	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	471.33	114	chr1	152214883	.	C	T	471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.88;DP=4565;ExcessHet=0;FS=6.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.41;MQRankSum=-0.946;QD=1.77;ReadPosRankSum=0.386;SOR=1.177	GT:AD:DP:GQ:PL	0/0:293,0:293:99:0,120,1800	18	0	1	0
chr1	152215073	152215073	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6556A:p.G2186S	.	413	1058	51	0	0	51	0.0235348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	.	0.0028	0.0009	0.0004	0.0003	0	0.0013	0.0015	0.0132	0.0017076	264	154602	rs369310118	0.0004	0.0016	0.0003	0.0005	0.0035	0.0004	0.0004	0.0031	0.0030	0.0002	6.77e-05	0.0013	2.521e-05	1.89e-05	0.0032	0.0002	0.0005	0.0035	0.0003	0.0006	0.0003	0.0004	0.0047	0.0003	0.0002	0.0032	0.0027	0.0001	0	6.704e-05	0.0003	0	0	0	0.0003	0.0015	0.0047	0.031	0.45039	D	0.29	0.21011	T	0.89	0.48942	P	0.082	0.29098	B	.	.	.	.	1	0.08975	N	1.955	0.52871	M	4.46	0.02102	T	-0.75	0.21003	N	0.217	0.24260	-0.8940	0.48577	T	0.002	0.00526	T	9	0.006400287	0.00145	T	.	.	.	0.079	0.23065	.	.	0.337868961071	0.33390	0.023821135414630563	0.02333	.	.	0.574209809303	0.49272	T	0.016079	0.13364	T	-0.629641	0.00096	T	-0.674462	0.07325	T	0.00560276802564981	0.00061	T	0.332567	0.07018	T	0.04420956	0.07027	0.047306728	0.06787	0.04420956	0.07027	0.047306728	0.06786	-9.429	0.70417	D	.	.	0.117	0.23848	B	.	.	0.827833	0.11993	8.550	0.82080008091088474	0.14008	0.00254	0.01397	N	AEFBI	0.034004	0.04137	N	-0.901208047052108	0.10814	0.5186456	-1.13080107986528	0.07117	0.3450171	1.00382679385416E-4	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-3.96	0.03833	-1.323000	0.02800	.	.	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3675:0.1449:0.4876	5.364	0.15408	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005870	0.000000	0.001359	0.016667	0.000000	0.008621	0.009259	0.015385	0.05263	4329.83	652	chr1	152215073	.	C	T	4329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.28;DP=5863;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=30.8;MQRankSum=1.88;QD=2.91;ReadPosRankSum=2.43;SOR=0.791	GT:AD:DP:GQ:PL	0/0:293,0:293:99:0,120,1800	17	0	2	0
chr1	152215299	152215301	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.6328_6330del:p.H2110del	.	437	1069	16	0	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	0	0	0	0.0682	4.53e-05	7	154602	rs758102976	6.168e-06	0.0002	4.091e-06	8.266e-06	6.042e-05	2.9e-06	2.1e-06	1.001e-05	3.74e-06	6.042e-05	2.244e-05	0	0	0	0	5.401e-06	0	0	1.784e-05	7.561e-05	1.712e-05	1.862e-05	3.893e-05	2.96e-06	1.11e-06	.	.	3.893e-05	0	0	0	0	0	0	1.744e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005898	0.000000	0.001538	0.004902	0.000000	0.019231	0.008333	0.014019	0.05263	135.77	97	chr1	152215298	.	CGTG	C	135.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.207;DP=2625;ExcessHet=0.119;FS=8.723;InbreedingCoeff=-0.0427;MLEAC=1;MLEAF=0.026;MQ=30.46;MQRankSum=0.236;QD=0.28;ReadPosRankSum=0.614;SOR=4.016	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	17	0	2	0
chr1	152215888	152215888	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5741A:p.G1914E	.	354	1166	2	0	0	2	0.000856898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00626681732975	.	.	1.654e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762489812	0	9.585e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.152	0.24468	T	0.009	0.66756	D	0.994	0.66517	D	0.755	0.56206	P	.	.	.	.	1	0.08975	N	1.475	0.37068	L	4.75	0.01589	T	-1.65	0.39503	N	0.175	0.18784	-0.8376	0.52806	T	0.004	0.01365	T	9	0.2000534	0.36037	T	0.006267	0.16464	T	0.061	0.17616	0.33	0.31519	0.50024110626	0.49660	0.009804769972358504	0.00942	.	.	0.588122785091	0.51229	T	0.019959	0.15803	T	-0.239242	0.15447	T	-0.581431	0.14417	T	0.085346611388814	0.10656	T	0.230077	0.03096	T	0.047483604	0.08124	0.09568864	0.22706	0.047483604	0.08124	0.09568864	0.22705	-9.825	0.72857	D	.	.	0.207	0.43421	B	.	.	0.561956	0.09303	6.086	0.631231849483748	0.07141	0.05763	0.11694	N	AEFDBI	0.047846	0.08101	N	-0.617992606498837	0.18404	0.9552156	-0.809714962409545	0.14261	0.7442199	1.17919571328828E-4	0.05269	0.553676	0.25195	0	0.55458	0.17659	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.87	1.74	0.23636	0.380000	0.20331	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5086:0.4914:0.0	10.795	0.45657	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	118	chr1	152215888	.	C	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.56;DP=21700;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.26;MQRankSum=-6.121;QD=1.15;ReadPosRankSum=1.88;SOR=1.075	GT:AD:DP:GQ:PL	0/0:2161,0:2161:99:0,120,1800	18	0	1	0
chr1	152216246	152216246	G	-	exonic	HRNR	.	frameshift deletion	HRNR:NM_001009931:exon3:c.5383delC:p.Q1795Rfs*196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409459370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.686e-06	6.596e-06	0	1.371e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	558.29	118	chr1	152216245	.	TG	T	558.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.748;DP=6502;ExcessHet=0;FS=49.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.18;MQRankSum=-0.366;QD=2.53;ReadPosRankSum=0.908;SOR=5.654	GT:AD:DP:GQ:PL	0/0:502,0:502:99:0,120,1800	18	0	1	0
chr1	152216539	152216539	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5090A:p.R1697H	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0008	.	0.0015	0.0177	0.0007	0	0	0.0001	0	0.0001	0.0013066	202	154602	rs147155372	0.0003	0.0011	0.0003	0.0003	0.0087	0.0002	0.0002	0.0078	0.0075	0.0087	0.0005	0.0002	2.622e-05	0	0.0009	3.964e-05	0.0006	0.0001	0.0048	0.0096	0.0046	0.0051	0.0168	0.0045	0.0044	0.0157	0.0153	0.0168	0	0.0025	0.0003	0	0	0.0039	0.0001	0.0037	0.0003	0.088	0.32296	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	0.98	0.01447	N	0.055	0.02658	-0.9540	0.40274	T	0.002	0.00646	T	9	0.0040805936	0.00080	T	.	.	.	0.045	0.12272	.	.	0.184867976434	0.18130	0.03981449810652407	0.03927	.	.	0.443020343781	0.30990	T	0.014138	0.12091	T	-0.377501	0.03230	T	-0.78003	0.02452	T	0.00689922777791677	0.00078	T	0.230677	0.03117	T	0.018001338	0.00323	0.032038733	0.01879	0.018001338	0.00322	0.032038733	0.01879	-9.529	0.71039	D	.	.	0.094	0.14614	B	.	.	0.641780	0.10104	6.849	0.81979327576415273	0.13957	0.02032	0.06091	N	AEFI	0.024710	0.01573	N	-1.40839909054869	0.02564	0.1134066	-1.47200568872446	0.02577	0.1187333	1.57290069993394E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	-1.58	0.08029	-0.554000	0.06097	.	.	-4.950000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5788:0.0:0.4212	8.960	0.35006	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002648	0.000000	0.005435	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1738.33	193	chr1	152216539	.	C	T	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.4;DP=5836;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.55;MQRankSum=0.268;QD=4.54;ReadPosRankSum=1.1;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:450,0:450:99:.:.:0,120,1800:.	18	0	1	0
chr1	152216552	152216552	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5077A:p.G1693R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	.	0.0015	0.0170	0.0007	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs140441435	0.0003	0.0011	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0005	0.0001	0	1.892e-05	0.0011	4.161e-05	0.0006	0.0001	0.0046	0.0091	0.0045	0.0047	0.0162	0.0043	0.0042	0.0151	0.0147	0.0162	0	0.0023	0.0003	0	0	0	7.679e-05	0.0039	0	0.014	0.53172	D	0.737	0.05036	T	0.02	0.18235	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.32	0.66415	M	4.59	0.01885	T	-1.71	0.40660	N	0.105	0.08925	-0.9381	0.42916	T	0.001	0.00467	T	9	0.0070360303	0.00160	T	.	.	.	0.011	0.01250	0.286	0.24440	0.318828661733	0.31499	0.013213045917889436	0.01279	.	.	0.51032936573	0.40269	T	0.017396	0.14198	T	-0.299816	0.08677	T	-0.668442	0.07708	T	0.0046805425629068	0.00050	T	0.452755	0.12846	T	0.08583757	0.19928	0.07435774	0.16259	0.08583757	0.19928	0.07435774	0.16259	-9.549	0.71163	D	.	.	0.293	0.52393	B	.	.	0.546363	0.09152	5.932	0.85331026945132604	0.15826	0.01332	0.04590	N	AEFI	0.031235	0.03297	N	-1.29279395537981	0.03761	0.1685979	-1.36864479814756	0.03591	0.1678097	1.78876457453815E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	-1.78	0.07527	-1.478000	0.02435	.	.	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4305:0.1931:0.3764	3.692	0.07881	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001589	0.000000	0.004076	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1629.33	193	chr1	152216552	.	C	T	1629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=5760;ExcessHet=0;FS=4.909;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=28.93;MQRankSum=0.397;QD=4.92;ReadPosRankSum=1.82;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:450,0:450:99:.:.:0,120,1800:.	18	0	1	0
chr1	152216709	152216711	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.4918_4920del:p.H1640del	.	491	1022	9	0	0	9	0.00438383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403795514	6.077e-05	0.0006	4.854e-05	7.283e-05	0.0007	4.767e-05	4.358e-05	0.0005	0.0004	0	0	0	2.914e-05	0	0.0003	1.703e-05	7.089e-05	0.0007	4.618e-05	0.0002	0	9.894e-05	0.0009	1.478e-05	9.26e-06	0.0002	6.698e-05	6.124e-05	0	0	0	0	0	0	2.077e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	413.79	22	chr1	152216708	.	CGTG	C	413.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=940;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=24.54;MQRankSum=1.29;QD=4.36;ReadPosRankSum=-1.055;SOR=0.044	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	17	0	2	0
chr1	152217599	152217599	T	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A4030C:p.S1344R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00156535777422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450192481	0.0017	0.0074	0.0017	0.0017	0.0052	0.0015	0.0014	0.0038	0.0034	8.637e-05	0.0024	0.0009	0.0052	0.0021	0.0030	0.0015	0.0014	0.0014	0.0001	0.0063	0	0.0002	0.0001	0	0	.	.	0.0001	.	0	.	0	0	.	0	0	0	0.776	0.03326	T	0.523	0.10354	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	4.21	0.02664	T	-0.98	0.25986	N	0.106	0.09066	-0.9067	0.47250	T	0.001	0.00467	T	9	0.02778691	0.00919	T	0.001565	0.02471	T	0.007	0.00512	0.332	0.31843	0.137902524267	0.13322	0.048293076146962606	0.04772	.	.	0.479473590851	0.35984	T	0.012378	0.10888	T	-0.413799	0.01876	T	-0.83217	0.01224	T	0.0311097682579931	0.02164	T	0.178282	0.01754	T	0.05319536	0.10031	0.051419627	0.08271	0.05319536	0.10031	0.051419627	0.08271	-4.99	0.36731	T	.	.	0.223	0.45483	B	.	.	-2.713425	0.00019	0.001	0.18643636364747598	0.00595	0.00395	0.01981	N	AEFI	0.034460	0.04272	N	-2.74901775895161	0.00004	0.0001790914	-2.83359311602873	0.00003	0.0001701767	0.117692471896185	0.16807	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.36	-6.73	0.01586	-11.323000	0.00005	.	.	-7.766000	0.00001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1151:0.1348:0.2288:0.5213	2.757	0.04971	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.22	15	chr1	152217599	.	T	G	75.22	.	AC=2;AF=0.083;AN=24;DP=122;ExcessHet=0;FS=0;InbreedingCoeff=0.6117;MLEAC=2;MLEAF=0.083;MQ=42;QD=26.18;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:152217569_C_A:90,6,0:152217569	11	1	0	7
chr1	152218574	152218574	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3055A:p.G1019R	.	416	1072	34	0	0	34	0.0156107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	0.00339457	0.0024	0.0003	0.0009	0.0003	0.0008	0.0006	0.0055	0.0141	0.0021086	326	154602	rs150117899	0.0013	0.0013	0.0009	0.0017	0.0232	0.0012	0.0012	0.0200	0.0188	0.0004	0.0005	0.0003	7.56e-05	0.0003	0.0232	0.0004	0.0019	0.0132	0.0009	0.0009	0.0007	0.0010	0.0133	0.0007	0.0007	0.0107	0.0098	0.0002	0	0.0002	0	0.0002	0	0.0170	0.0006	0.0024	0.0133	0.113	0.28772	T	0.078	0.42261	T	0.546	0.38028	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	4.58	0.01901	T	-1.73	0.41046	N	0.053	0.02462	-0.9355	0.43318	T	0.001	0.00438	T	9	0.003388822	0.00059	T	.	.	.	0.011	0.01250	0.278	0.23164	0.350307294319	0.34646	0.0024863189592469093	0.00230	.	.	0.580455064774	0.50149	T	0.031719	0.22169	T	-0.706007	0.00034	T	-0.775875	0.02580	T	0.00664501759776044	0.00074	T	0.321768	0.06536	T	0.045579843	0.07485	0.07004887	0.14837	0.045579843	0.07484	0.07004887	0.14836	-5.706	0.43747	T	.	.	0.140	0.30608	B	.	.	-0.214648	0.03016	0.459	0.58679292666945504	0.06048	0.01260	0.04422	N	AEFBI	0.029677	0.02845	N	-1.11917760657677	0.06302	0.2897489	-1.20590993068046	0.05814	0.2781021	1.35723934429664E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	1.04	0.19220	-1.303000	0.02852	.	.	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7071:0.0:0.2929	5.238	0.14774	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012698	0.005051	0.008152	0.032787	0.000000	0.017241	0.006098	0.015152	0.02632	6005.33	408	chr1	152218574	.	C	T	6005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=4558;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=1.73;QD=13.81;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr1	152218889	152218889	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2740A:p.G914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0064	0.00638978	0.0017	0.0178	0.0010	0.0002	0	0.0001	0	6.056e-05	0.0016559	256	154602	rs150329486	0.0007	0.0007	0.0008	0.0006	0.0175	0.0006	0.0006	0.0163	0.0159	0.0175	0.0012	0	0.0002	0	0.0012	0.0002	0.0015	6.957e-05	0.0049	0.0049	0.0051	0.0047	0.0166	0.0046	0.0045	0.0156	0.0152	0.0166	0	0.0023	0	0.0006	0	0	0.0002	0.0038	0	0.573	0.06125	T	0.995	0.02336	T	0.906	0.49993	P	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	4.47	0.02084	T	0.48	0.03041	N	0.073	0.04668	-0.9162	0.46063	T	0.001	0.00378	T	9	0.0038478076	0.00073	T	.	.	.	0.038	0.09825	.	.	0.247322355667	0.24350	0.002395140940065346	0.00222	.	.	0.547664523125	0.45528	T	0.013393	0.11594	T	-0.746782	0.00019	T	-0.830541	0.01253	T	0.00463312138219259	0.00050	T	0.286771	0.05140	T	0.019365957	0.00465	0.03967883	0.04115	0.019365957	0.00465	0.03967883	0.04114	-6.018	0.46431	T	.	.	0.095	0.14706	B	.	.	0.181383	0.05688	2.136	0.71513911445712808	0.09655	0.00438	0.02140	N	AEFBI	0.022896	0.01203	N	-1.1325469797088	0.06072	0.2785413	-1.30970758777482	0.04304	0.2027178	5.6834665638494E-5	0.04171	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-3.63	0.04238	-2.207000	0.01314	.	.	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5327:0.0:0.4673	9.434	0.37792	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003171	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	6729.33	408	chr1	152218889	.	C	T	6729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6;DP=4536;ExcessHet=0;FS=3.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-0.067;QD=13.19;ReadPosRankSum=0.52;SOR=0.953	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr1	152219026	152219026	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2603C:p.G868A	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0032	0.00399361	0.0009	0.0093	0.0013	0	0	2.997e-05	0	0	0.000925	143	154602	rs141313202	0.0004	0.0004	0.0004	0.0003	0.0102	0.0003	0.0003	0.0093	0.0089	0.0102	0.0014	0	0	0	0.0009	5.935e-05	0.0010	6.957e-05	0.0029	0.0029	0.0030	0.0027	0.0098	0.0027	0.0026	0.0090	0.0087	0.0098	0	0.0013	0	0	0	0	0.0001	0.0028	0	0.023	0.48186	D	0.066	0.44501	T	0.759	0.43487	P	0.312	0.41466	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.23	0.18083	T	-2.47	0.53898	N	0.127	0.12055	-1.0209	0.23421	T	0.017	0.06950	T	9	0.0054015517	0.00119	T	.	.	.	0.022	0.04323	.	.	0.445910236696	0.44209	0.0029774215902774073	0.00277	.	.	0.516959667206	0.41198	T	0.031342	0.21997	T	-0.609626	0.00127	T	-0.640643	0.09622	T	0.0404659285131421	0.03774	T	0.365463	0.08501	T	0.10876294	0.25715	0.072105266	0.15518	0.10876294	0.25714	0.072105266	0.15518	-8.473	0.64250	D	.	.	0.154	0.34049	B	.	.	0.739666	0.11089	7.739	0.5682564493180815	0.05636	0.02945	0.07771	N	AEFDBI	0.032395	0.03651	N	-0.632829567486811	0.17964	0.9288783	-0.850992648184749	0.13264	0.6871083	8.30543076000612E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.01	-0.332	0.12046	0.042000	0.13834	.	.	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6052:0.1719:0.2229	5.041	0.13799	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	3873.33	408	chr1	152219026	.	C	G	3873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.413;DP=4493;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.998;SOR=0.678	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr1	152219296	152219296	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2333A:p.R778H	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0002	0.00259585	0.0012	0.0002	0.0002	0.0001	0	8.996e-05	0	0.0078	0.0010867	168	154602	rs144865604	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0066	0.0065	0.0002	0.0002	7.652e-05	0.0002	1.875e-05	0.0007	8.543e-05	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0045	0.0002	0.0002	0.0030	0.0025	0.0001	0	0.0003	0	0.0006	9.709e-05	0	0.0001	0.0005	0.0045	0.528	0.07071	T	0.544	0.09621	T	0.789	0.44570	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	3.8	0.03781	T	0.52	0.02853	N	0.047	0.01911	-0.9046	0.47493	T	0.001	0.00287	T	9	0.0042338967	0.00085	T	.	.	.	0.105	0.29889	.	.	0.16115917748	0.15686	0.0045458322473725075	0.00427	.	.	0.51973170042	0.41589	T	0.014461	0.12310	T	-0.746148	0.00019	T	-0.839861	0.01100	T	0.0126957465565051	0.00213	T	0.283372	0.04986	T	0.014893002	0.00112	0.023627648	0.00376	0.014893002	0.00112	0.023627648	0.00376	-3.476	0.16098	T	.	.	0.065	0.02012	B	.	.	-1.393695	0.00364	0.007	0.736757070822746	0.10414	0.00011	0.00159	N	AEFBI	0.014617	0.00240	N	-2.77765501593797	0.00003	0.0001555502	-2.93950325928788	0.00002	9.272091e-05	0.999999967041631	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-6.13	0.01937	-5.555000	0.00136	.	.	-6.032000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2815:0.1951:0.1983:0.3251	0.028	0.00004	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	4581.33	433	chr1	152219296	.	C	T	4581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.57;DP=6152;ExcessHet=0;FS=4.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.909;SOR=0.898	GT:AD:DP:GQ:PL	0/0:265,0:265:99:0,120,1800	18	0	1	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:379,70:449:99:1123,0,10656	11	0	7	1
chr1	152303400	152303400	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11486A:p.R3829H	Ichthyosis vulgaris, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	1195847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00120702879052	0.0009	0.00139776	0.0021	0.0002	0.0010	0.0010	0.0005	0.0012	0.0044	0.0087	0.0018434	285	154602	rs145079750	0.0013	0.0013	0.0011	0.0016	0.0088	0.0013	0.0012	0.0083	0.0081	0.0003	0.0011	0.0032	0.0002	0.0008	0.0055	0.0007	0.0019	0.0088	0.0011	0.0011	0.0010	0.0012	0.0064	0.0009	0.0009	0.0047	0.0041	0.0002	0	0.0014	0.0049	0.0008	0.0009	0.0136	0.0010	0.0009	0.0064	0.234	0.18061	T	.	.	.	0.998	0.73220	D	0.773	0.56974	P	.	.	.	.	1	0.08975	N	0.065	0.08236	N	4.32	0.02387	T	-0.54	0.16598	N	0.079	0.05414	-0.9634	0.38527	T	0.003	0.00961	T	9	0.005346328	0.00117	T	0.001207	0.01583	T	0.062	0.17934	.	.	0.107399877778	0.10242	0.04271700526932108	0.04216	.	.	0.217877522111	0.01191	T	0.011538	0.10280	T	-0.689889	0.00042	T	-0.75679	0.03229	T	0.018564080998527	0.00571	T	0.408659	0.10529	T	0.021193797	0.00709	0.03216483	0.01911	0.021193797	0.00709	0.03216483	0.01911	-2.943	0.09580	T	.	.	0.079	0.07130	B	.	.	0.664784	0.10331	7.062	0.9318573963517861	0.22848	0.00101	0.00653	N	AEFBI	0.017859	0.00498	N	-1.08648066475287	0.06891	0.3185598	-1.32037773699982	0.04167	0.1959913	5.15909918330053E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-3.19	0.04853	-1.700000	0.02005	.	.	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4566:0.0:0.5434	7.312	0.25655	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005285	0.000000	0.002717	0.016393	0.000000	0.000000	0.009146	0.000000	0.02632	8864.33	34	chr1	152303400	.	C	T	8864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.514;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1342:.	18	0	1	0
chr1	152303407	152303407	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11479T:p.G3827W	Ichthyosis vulgaris, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	1686955	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00119832699711	0.0009	0.000599042	0.0010	9.61e-05	0.0010	0	0.0003	0.0011	0.0033	0.0017	0.000925	143	154602	rs140464988	0.0008	0.0008	0.0008	0.0009	0.0052	0.0008	0.0008	0.0037	0.0032	0.0002	0.0010	0.0032	0	0.0007	0.0052	0.0007	0.0016	0.0017	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0009	0.0008	7.223e-05	0	0.0014	0.0049	0.0002	0.0009	0.0136	0.0009	0.0009	0.0012	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.725	0.79712	M	4.25	0.02564	T	-1.14	0.29323	N	0.247	0.27910	-0.9659	0.38033	T	0.011	0.04134	T	9	0.010894686	0.00241	T	0.001198	0.01558	T	0.055	0.15663	.	.	0.271763555656	0.26798	0.018599530964074594	0.01813	.	.	0.262300044298	0.05168	T	0.026344	0.19516	T	-0.532751	0.00370	T	-0.5453	0.17779	T	0.0656095285570982	0.08021	T	0.49935	0.15589	T	0.21910727	0.44435	0.19436175	0.43054	0.21910727	0.44434	0.19436175	0.43053	-6.991	0.53968	T	.	.	0.312	0.53921	B	.	.	1.764917	0.22449	15.62	0.89310769499541931	0.18688	0.01613	0.05219	N	AEFBI	0.053925	0.09760	N	-0.329808391549347	0.28021	1.542124	-0.617315905071821	0.19049	1.020297	1.16145259936458E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	0.217	0.14540	-1.139000	0.03324	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.3783:0.6217:0.0	8.461	0.32089	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004757	0.000000	0.002717	0.016393	0.000000	0.000000	0.009146	0.000000	0.02632	8882.33	34	chr1	152303407	.	C	A	8882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=1881;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0.399;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1342:.	18	0	1	0
chr1	152303602	152303602	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11284A:p.P3762T	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00101953236038	0.0002	.	0.0002	0	0	0	0	8.99e-05	0	0.0009	0.0001358	21	154602	rs150476263	0.0001	0.0001	8.168e-05	0.0001	0.0010	8.982e-05	8.466e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0.0003	4.586e-05	0.0001	0.0010	0.0001	0.0001	9.02e-05	0.0001	0.0010	6.532e-05	5.339e-05	0.0004	0.0003	0	0	0.0005	0	0	0	0	4.417e-05	0.0005	0.0010	0.773	0.03354	T	.	.	.	0.296	0.32457	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	4.75	0.01589	T	-0.38	0.13418	N	0.08	0.05542	-0.9153	0.46181	T	0.002	0.00676	T	9	0.015885204	0.00334	T	0.00102	0.01120	T	0.023	0.04649	.	.	0.0846915920261	0.08053	0.049316993872412965	0.04874	.	.	0.261242181063	0.05039	T	0.019716	0.15658	T	-0.575562	0.00205	T	-0.700368	0.05806	T	0.0303582494013571	0.02046	T	0.381062	0.09207	T	0.025110465	0.01413	0.041988265	0.04898	0.025110465	0.01413	0.041988265	0.04897	-8.055	0.61445	D	.	.	0.079	0.07177	B	.	.	-2.001214	0.00101	0.002	0.65959752636705071	0.07921	0.00583	0.02625	N	AEFBI	0.026025	0.01882	N	-1.3114362179893	0.03543	0.1584629	-1.43886490532304	0.02872	0.1329381	1.19175121292243E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.25	-0.474	0.11504	-1.677000	0.02046	.	.	-4.624000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4909:0.2676:0.2415:0.0	3.861	0.08503	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5916.33	34	chr1	152303602	.	G	T	5916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.346;DP=1818;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.028;QD=13.51;ReadPosRankSum=-0.609;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1342	18	0	1	0
chr1	152303961	152303961	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T10925C:p.I3642T	Ichthyosis vulgaris, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	YES	1195849	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0069	.	0.0035	0.0385	0.0013	0	0	0.0004	0.0011	0.0004	0.0005763	15	26028	rs150010190	0.0011	0.0014	0.0013	0.0010	0.0320	0.0011	0.0011	0.0304	0.0297	0.0320	0.0018	0.0008	5.038e-05	0	0.0033	0.0003	0.0021	0.0004	0.0058	0.0085	0.0060	0.0057	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0017	0	0	0	0	0.0002	0.0024	0	1.0	0.00964	T	.	.	.	0.081	0.24602	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	-0.71	0.01811	N	3.86	0.03624	T	0.43	0.03297	N	0.038	0.01203	-0.9336	0.43605	T	0.002	0.00615	T	9	0.0039396286	0.00075	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.010551573171303709	0.01016	.	.	0.28362852335	0.08003	T	0.012736	0.11141	T	-0.784356	0.00010	T	-0.875764	0.00690	T	3.21378574881237e-05	0.00000	T	0.237776	0.03353	T	0.021012286	0.00683	0.053564195	0.09047	0.021012286	0.00683	0.053564195	0.09046	-5.241	0.39356	T	.	.	0.069	0.03060	B	.	.	-0.719614	0.01275	0.067	0.35760694279240979	0.02262	0.00017	0.00201	N	AEFBI	0.012907	0.00155	N	-1.46307970545098	0.02116	0.0930999	-1.42371780322069	0.03016	0.1399039	1.59035186883024E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.59	1.5	0.22029	-0.328000	0.07988	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0973:0.1616:0.7411:0.0	8.009	0.29503	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005826	0.000000	0.012228	0.008197	0.000000	0.008621	0.000000	0.000000	0.02632	6972.33	752	chr1	152303961	.	A	G	6972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.901;DP=7954;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.36;MQRankSum=-4.776;QD=6.33;ReadPosRankSum=-0.194;SOR=0.628	GT:AD:DP:GQ:PL	0/0:666,0:666:99:0,120,1800	18	0	1	0
chr1	152305321	152305321	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G9565T:p.A3189S	Ichthyosis vulgaris, Autosomal dominant	3	1507	2	0	10	12	0.00066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00134446241271	.	.	0.0002	0	8.646e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs142839051	0.0001	0.0001	7.489e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.236e-05	0	2.521e-05	0	0.0005	8.995e-06	0.0001	0.0021	0.0001	0.0001	1.307e-05	0.0002	0.0034	6.645e-05	5.431e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.478e-05	0	0.0034	0.451	0.08969	T	.	.	.	0.338	0.33405	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	2.285	0.65182	M	4.69	0.01694	T	0.01	0.06868	N	0.19	0.20793	-0.8915	0.48802	T	0.002	0.00615	T	9	0.019930273	0.00452	T	0.001344	0.01910	T	0.056	0.15993	0.596	0.72617	0.156986980423	0.15292	0.017839397403768907	0.01738	.	.	0.251701623201	0.03949	T	0.009373	0.08534	T	-0.638751	0.00085	T	-0.697561	0.05960	T	0.03378478208761	0.02601	T	0.524548	0.17205	T	0.100362465	0.23698	0.13793008	0.32954	0.100362465	0.23698	0.13793008	0.32953	-7.606	0.58353	D	.	.	0.112	0.21840	B	.	.	0.067552	0.04768	1.387	0.93584458884289123	0.23433	0.00541	0.02492	N	AEFBI	0.035815	0.04672	N	-1.03008496426776	0.07984	0.3727922	-1.2272429485925	0.05476	0.261025	1.70874731548091E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.84	-1.58	0.08029	-0.309000	0.08185	.	.	0.424000	0.20830	0.000000	0.06391	.	.	0.001000	0.02609	0.2785:0.3684:0.0:0.3531	1.819	0.02918	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5658.33	326	chr1	152305321	.	C	A	5658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.524;DP=3957;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.07;MQRankSum=1.02;QD=13.22;ReadPosRankSum=-1.293;SOR=0.694	GT:AD:DP:GQ:PL	0/0:322,0:322:99:0,120,1800	18	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	4465.79	1333	chr1	152306286	.	A	C	4465.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.757;DP=13859;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.24;MQRankSum=-9.886;QD=1.08;ReadPosRankSum=5.9;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1180,0:1180:99:.:.:0,120,1800:.	16	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4024.75	1333	chr1	152306292	.	G	GCC	4024.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.203;DP=13924;ExcessHet=0.3672;FS=0.953;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.62;MQRankSum=-10.23;QD=0.95;ReadPosRankSum=6.22;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1180,0:1180:99:.:.:0,120,1800:.	16	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3840.75	1333	chr1	152306294	.	ATG	A	3840.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.481;DP=13958;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.84;MQRankSum=-10.23;QD=0.9;ReadPosRankSum=5.99;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1180,0:1180:99:.:.:0,120,1800:.	16	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	3485.79	1333	chr1	152306299	.	T	A	3485.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.225;DP=13952;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=54.17;MQRankSum=-10.57;QD=0.82;ReadPosRankSum=5.09;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1180,0:1180:99:.:.:0,120,1800:.	16	0	3	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X	Ichthyosis vulgaris, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	381.33	457	chr1	152308194	.	G	T	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.23;DP=6000;ExcessHet=0;FS=5.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-12.38;QD=0.59;ReadPosRankSum=-6.051;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	18	0	1	0
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A	Ichthyosis vulgaris, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	468.33	457	chr1	152308195	.	A	C	468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.96;DP=6001;ExcessHet=0;FS=7.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-12.09;QD=0.72;ReadPosRankSum=-6.438;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	18	0	1	0
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	2464.2	642	chr1	152308209	.	C	A	2464.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=3.21;DP=7060;ExcessHet=0.119;FS=11.692;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.81;MQRankSum=-10.53;QD=1.9;ReadPosRankSum=-4.978;SOR=1.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	11	0	2	6
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.008621	0.009146	0.003788	0.07692	3121.2	646	chr1	152308212	.	A	G	3121.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=5.3;DP=7103;ExcessHet=0.119;FS=13.578;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.82;MQRankSum=-9.511;QD=2.38;ReadPosRankSum=-4.198;SOR=1.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	11	0	2	6
chr1	152308234	152308234	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6652A:p.D2218N	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1203632	not_provided|Ichthyosis_vulgaris	MedGen:C3661900|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	.	0.0011	0.0123	0.0007	0	0	0.0001	0	0	0.0005763	15	26028	rs143707744	0.0004	0.0007	0.0005	0.0004	0.0068	0.0004	0.0004	0.0060	0.0057	0.0068	0.0007	3.827e-05	0	0	0	0.0003	0.0005	0.0002	0.0005	0.0013	0.0005	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0	0.0003	0.0005	0.0004	0.553	0.06523	T	.	.	.	0.972	0.57405	D	0.311	0.41430	B	.	.	.	.	1	0.08975	N	2.665	0.77964	M	3.62	0.04399	T	-1.17	0.29933	N	0.122	0.11340	-0.9444	0.41911	T	0.005	0.01797	T	9	0.007345259	0.00167	T	.	.	.	0.114	0.32008	.	.	0.183819452728	0.17975	0.024094848495623277	0.02360	.	.	0.292563855648	0.09296	T	0.026353	0.19521	T	-0.400429	0.02301	T	-0.812965	0.01599	T	0.0250244774119663	0.01276	T	0.440256	0.12156	T	0.062953785	0.13206	0.051176984	0.08182	0.062953785	0.13205	0.051176984	0.08182	-7.83	0.59906	D	.	.	0.140	0.30713	B	.	.	0.808493	0.11794	8.366	0.51359651342975077	0.04548	0.00135	0.00831	N	AEFBI	0.027289	0.02204	N	-0.904809128824889	0.10728	0.5141272	-1.19281349150263	0.06029	0.2889998	1.58794692353994E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.04	-1.32	0.08721	-0.178000	0.09775	.	.	-0.719000	0.03822	0.000000	0.06391	0.142000	0.23101	0.001000	0.02609	0.0:0.4242:0.3383:0.2375	2.725	0.04890	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2511.33	669	chr1	152308234	.	C	T	2511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.69;DP=7162;ExcessHet=0;FS=2.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.09;MQRankSum=-15.14;QD=3.67;ReadPosRankSum=-2.004;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	18	0	1	0
chr1	152308240	152308240	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6646C:p.W2216R	Ichthyosis vulgaris, Autosomal dominant	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0011	0.0113	0.0002	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs750334731	6.16e-06	0.0003	5.449e-06	6.879e-06	0.0001	2.9e-06	2.1e-06	4.124e-05	2.401e-05	0.0001	2.238e-05	0	2.519e-05	0	0	1.799e-06	1.659e-05	0	0.0004	0.0055	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	1.472e-05	0	0	0.884	0.02519	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.74	0.01604	T	0.57	0.02638	N	0.041	0.01421	-0.9918	0.32141	T	0.001	0.00287	T	9	0.006183088	0.00139	T	.	.	.	0.015	0.02232	0.275	0.22687	0.134241683229	0.13084	0.017096601575852525	0.01664	.	.	0.21634504199	0.01109	T	0.012107	0.10698	T	-0.519008	0.00446	T	-0.814167	0.01574	T	0.0325369226154847	0.02394	T	0.142786	0.01162	T	0.030487433	0.02720	0.048043367	0.07052	0.030487433	0.02720	0.048043367	0.07051	3.097	0.00019	T	.	.	0.097	0.15877	B	.	.	0.174176	0.05627	2.079	0.58310186660061003	0.05964	0.00015	0.00188	N	AEFBI	0.012262	0.00129	N	-1.48502118576232	0.01955	0.08584978	-1.49893989338641	0.02353	0.1081092	1.49699493291343E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.46	1.46	0.21769	-1.509000	0.02368	.	.	-0.608000	0.04593	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2291:0.0:0.7709:0.0	4.096	0.09465	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	669	chr1	152308240	.	A	G	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=7229;ExcessHet=0;FS=8.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.34;MQRankSum=-11.89;QD=0.12;ReadPosRankSum=-6.075;SOR=1.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	18	0	1	0
chr1	152308561	152308561	-	CGCAGACTGTCCATGGGTGGA	exonic	FLG	.	nonframeshift insertion	FLG:NM_002016:exon3:c.6324_6325insTCCACCCATGGACAGTCTGCG:p.A2108_P2109insSTHGQSA	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5771.29	711	chr1	152308561	.	G	GCGCAGACTGTCCATGGGTGGA	5771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=8315;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-2.623;QD=6.91;ReadPosRankSum=0.471;SOR=0.698	GT:AD:DP:GQ:PL	0/0:666,0:666:99:0,120,1800	18	0	1	0
chr1	152308813	152308813	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6073A:p.G2025R	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1175751	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	.	0.0061901	0.0032	0.0349	0.0014	0.0002	0	8.99e-05	0.0022	0.0001	0.001191	31	26028	rs144517370	0.0006	0.0011	0.0007	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0008	0	0.0002	0	0.0003	7.105e-05	0.0015	0.0002	0.0085	0.0100	0.0091	0.0079	0.0298	0.0081	0.0080	0.0284	0.0278	0.0298	0	0.0030	0	0	0	0	0.0001	0.0052	0.0006	0.078	0.33923	T	.	.	.	0.013	0.16609	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.16	0.29674	L	3.73	0.03982	T	-3.34	0.66325	D	0.226	0.25377	-0.9155	0.46155	T	0.004	0.01159	T	9	0.0039421916	0.00076	T	.	.	.	0.014	0.01968	0.483	0.56462	0.152612264143	0.14878	0.003590976259755642	0.00336	.	.	0.308184325695	0.11633	T	0.119519	0.44110	T	-0.682885	0.00046	T	-0.737437	0.03999	T	0.0119750717029964	0.00188	T	0.488051	0.14953	T	0.1530063	0.34705	0.16117233	0.37502	0.1530063	0.34704	0.16117233	0.37502	-5.74	0.44048	T	.	.	0.117	0.23848	B	.	.	0.151637	0.05437	1.909	0.37856475819613311	0.02519	0.01773	0.05562	N	AEFBI	0.045415	0.07423	N	-1.23431349634472	0.04511	0.2037162	-1.30979691060981	0.04303	0.2026631	1.575500161069E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	-1.53	0.08156	-0.409000	0.07223	.	.	-0.616000	0.04572	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3314:0.3754:0.2933	3.892	0.08627	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000529	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	9539.33	1305	chr1	152308813	.	C	T	9539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.34;DP=13057;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.48;MQRankSum=-24.92;QD=9.42;ReadPosRankSum=0.217;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1049,0:1049:99:.:.:0,120,1800:.	18	0	1	0
chr1	152309148	152309148	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5738C:p.N1913T	Ichthyosis vulgaris, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000758759005081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs541394374	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0025	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.573e-05	0	0	0	0	1.473e-05	0	0	0.305	0.14256	T	.	.	.	0.911	0.50336	P	0.579	0.50152	P	.	.	.	.	1	0.08975	N	1.265	0.31966	L	4.7	0.01673	T	-0.16	0.09460	N	0.07	0.04307	-0.9710	0.36988	T	0.002	0.00707	T	9	0.06515136	0.08748	T	7.59E-4	0.00549	T	0.057	0.16321	0.315	0.29096	0.0716867268079	0.06686	0.0015192893771644796	0.00140	.	.	0.246517330408	0.03409	T	0.012997	0.11321	T	-0.42283	0.01641	T	-0.845143	0.01024	T	0.169582322693503	0.18552	T	0.324568	0.06628	T	0.080356464	0.18408	0.065636255	0.13332	0.080356464	0.18408	0.065636255	0.13331	-3.966	0.23293	T	.	.	0.188	0.40554	B	.	.	-1.053360	0.00698	0.020	0.25207745535954701	0.01151	0.00897	0.03520	N	AEFBI	0.036746	0.04945	N	-1.95268531002226	0.00267	0.01145097	-2.23221538702727	0.00095	0.004161579	0.999995353605371	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.9	0.01496	-4.975000	0.00192	.	.	-3.412000	0.00088	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.452:0.2904:0.1617	5.405	0.15616	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	686	chr1	152309148	.	T	G	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=7441;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.29;MQRankSum=-14.93;QD=0.85;ReadPosRankSum=-3.185;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:586,0:586:99:.:.:0,120,1800:.	18	0	1	0
chr1	152309149	152309149	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5737C:p.N1913H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	1164847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.0081869	0.0021	0.0224	0.0010	0	0	8.99e-05	0	0	0.0016136	42	26028	rs561463895	0.0006	0.0009	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	2.519e-05	0	0.0037	6.927e-05	0.0014	0.0002	0.0061	0.0083	0.0063	0.0059	0.0215	0.0058	0.0057	0.0203	0.0198	0.0215	0	0.0024	0	0	0	0.0068	0.0001	0.0053	0.0002	0.314	0.13834	T	.	.	.	0.022	0.18677	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.02	0.07987	N	5.01	0.01308	T	0.47	0.03090	N	0.088	0.06587	-0.8877	0.49130	T	0.001	0.00408	T	9	0.0038010776	0.00071	T	.	.	.	0.028	0.06331	.	.	0.119812018005	0.11559	0.0028406063628844402	0.00264	.	.	0.239344403148	0.02732	T	0.01052	0.09491	T	-0.766611	0.00014	T	-0.860334	0.00839	T	0.00269116279263132	0.00028	T	0.275372	0.04709	T	0.042536438	0.06470	0.041122578	0.04604	0.042536438	0.06470	0.041122578	0.04604	0.936	0.00140	T	.	.	0.084	0.09772	B	.	.	-1.565117	0.00258	0.004	0.450417971896859	0.03506	0.00139	0.00851	N	AEFBI	0.019488	0.00682	N	-1.51631893579081	0.01742	0.07628056	-1.6477246330247	0.01388	0.06269787	0.00109989909081102	0.08217	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-5.76	0.02183	-1.826000	0.01799	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2638:0.1987:0.5375	7.455	0.26429	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010042	0.020202	0.020380	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	616.33	686	chr1	152309149	.	T	G	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=7437;ExcessHet=0;FS=2.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.28;MQRankSum=-14.85;QD=0.89;ReadPosRankSum=-3.104;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:586,0:586:99:.:.:0,120,1800:.	18	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P	Ichthyosis vulgaris, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	1164060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003719	0.020408	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1002.33	499	chr1	152309431	.	A	G	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.37;DP=5273;ExcessHet=0;FS=9.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.14;MQRankSum=-16.23;QD=2.01;ReadPosRankSum=-4.748;SOR=1.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:378,0:378:99:.:.:0,120,1800:.	18	0	1	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A	Ichthyosis vulgaris, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1084.33	543	chr1	152309635	.	T	C	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.98;DP=5558;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.09;MQRankSum=-19.04;QD=1.7;ReadPosRankSum=-6.58;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:396,0:396:99:.:.:0,120,1800:.	18	0	1	0
chr1	152310159	152310159	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T4727A:p.V1576E	Ichthyosis vulgaris, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	2355224	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.000893171561919	.	.	0.0002	0	0.0002	0	0	0.0003	0	0.0003	0.0001811	28	154602	rs142456327	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	0.0001	0	2.519e-05	0	0.0023	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.419e-05	0	0.0004	0.0003	0	0	0.0034	0.0004	0.0024	0	0.108	0.29420	T	.	.	.	0.777	0.44168	P	0.286	0.40541	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	4.72	0.01636	T	0.8	0.01866	N	0.12	0.11054	-0.9828	0.34351	T	0.002	0.00497	T	9	0.049469203	0.04540	T	8.93E-4	0.00822	T	0.045	0.12272	.	.	0.204665344411	0.20097	0.04666313650788544	0.04609	.	.	0.304457694292	0.11069	T	0.009163	0.08356	T	-0.565103	0.00237	T	-0.717443	0.04921	T	0.0312091747720231	0.02180	T	0.219778	0.02813	T	0.07619965	0.17217	0.083064616	0.19007	0.07619965	0.17216	0.083064616	0.19007	-7.14	0.55049	T	.	.	0.101	0.17615	B	.	.	-0.133389	0.03447	0.635	0.89143940260875654	0.18548	0.00493	0.02333	N	AEFBI	0.033580	0.04012	N	-1.07082361215629	0.07185	0.3330247	-1.25284168519111	0.05089	0.2416568	1.23693729481022E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	0.641	0.16930	-0.654000	0.05453	.	.	-1.772000	0.00663	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2334:0.0:0.7666:0.0	4.356	0.10612	582	0.69555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6503.33	376	chr1	152310159	.	A	T	6503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=4904;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=2.24;SOR=0.744	GT:AD:DP:GQ:PL	0/0:361,0:361:99:0,120,1800	18	0	1	0
chr1	152310480	152310480	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G4406A:p.R1469H	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0063556999883	0.0002	0.000998403	0.0004	9.61e-05	0	0.0045	0	8.992e-05	0.0011	0.0002	0.0003458	9	26028	rs145675213	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0035	0.0033	2.987e-05	2.236e-05	0	0.0040	0	0	0.0002	0.0001	0.0003	0.0002	0.0002	0.0002	0.0003	0.0045	0.0002	0.0001	0.0031	0.0026	4.83e-05	0	0	0	0.0045	0	0	8.828e-05	0.0005	0.0006	0.333	0.13003	T	.	.	.	0.291	0.32334	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.355	0.11969	N	4.68	0.01715	T	-0.18	0.09796	N	0.093	0.07262	-0.9091	0.46965	T	0.001	0.00222	T	9	0.004622817	0.00096	T	0.006356	0.16696	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.015683170140607494	0.01524	.	.	0.227581247687	0.01793	T	0.017036	0.13967	T	-0.694446	0.00039	T	-0.77017	0.02763	T	0.0300190734111642	0.01993	T	0.513449	0.16474	T	0.017604563	0.00287	0.02421554	0.00438	0.017604563	0.00286	0.02421554	0.00437	-2.3	0.04555	T	.	.	0.085	0.09965	B	.	.	0.055131	0.04675	1.323	0.84613867092124329	0.15395	0.00421	0.02078	N	AEFBI	0.047252	0.07937	N	-1.66589897246711	0.00970	0.04202707	-1.77166113161527	0.00854	0.03817084	0.00610564637469441	0.11130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	-6.72	0.01591	-3.809000	0.00406	.	.	-1.005000	0.01788	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.125:0.1932:0.4011:0.2807	2.123	0.03505	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001601	0.005208	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	4664.33	466	chr1	152310480	.	C	T	4664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=5458;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.06;QD=12.27;ReadPosRankSum=-0.153;SOR=0.688	GT:AD:DP:GQ:PL	0/0:410,0:410:99:0,120,1800	18	0	1	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C	Ichthyosis vulgaris, Autosomal dominant	0	1487	32	2	1	37	0.0119601	.	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	5860.33	466	chr1	152310577	.	G	A	5860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=5493;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-1.023;QD=13.32;ReadPosRankSum=1.18;SOR=0.597	GT:AD:DP:GQ:PL	0/0:410,0:410:99:0,120,1800	18	0	1	0
chr1	152310624	152310624	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A4262T:p.Q1421L	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000624236312454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779724442	4.788e-06	4.788e-06	4.084e-06	5.5e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	6.577e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.025	0.47320	D	.	.	.	0.072	0.23997	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	2.64	0.77224	M	4.78	0.01551	T	-1.71	0.40660	N	0.11	0.09631	-0.9507	0.40851	T	0.003	0.00800	T	9	0.07606238	0.11836	T	6.24E-4	0.00303	T	0.011	0.01250	0.281	0.23642	0.134241683229	0.13084	0.00960115145678403	0.00922	.	.	0.258911639452	0.04762	T	0.048112	0.27921	T	-0.445027	0.01208	T	-0.695499	0.06075	T	0.0366632325554088	0.03096	T	0.332567	0.07018	T	0.05721707	0.11359	0.04803701	0.07048	0.05721707	0.11359	0.04803701	0.07048	-9.135	0.68562	D	.	.	0.168	0.36966	B	.	.	0.139471	0.05334	1.823	0.6788149607626609	0.08488	0.00505	0.02373	N	AEFDBI	0.038379	0.05423	N	-1.15078674995923	0.05767	0.2637586	-1.29133367566164	0.04546	0.2147161	1.53353634355874E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.17	-1.42	0.08446	-2.159000	0.01366	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4363:0.1963:0.3674	3.604	0.07582	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6181.33	466	chr1	152310624	.	T	A	6181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=5624;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0.925;QD=12.03;ReadPosRankSum=0.388;SOR=0.813	GT:AD:DP:GQ:PL	0/0:410,0:410:99:0,120,1800	18	0	1	0
chr1	152312125	152312125	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2761A:p.D921N	Ichthyosis vulgaris, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	1036951	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00143321403794	.	.	2.471e-05	0.0003	0	0	0	0	0	0	3.84e-05	1	26028	rs781592684	1.643e-05	0.0002	1.362e-05	1.926e-05	3.035e-05	1.111e-05	9.34e-06	1.175e-05	9.55e-06	3.035e-05	2.238e-05	0	0	0	0	1.799e-05	3.317e-05	0	0.0006	0.0049	0.0006	0.0007	0.0024	0.0005	0.0005	0.0020	0.0018	0.0024	0	0	0	0	0	0	2.941e-05	0	0	0.052	0.39097	T	.	.	.	0.059	0.23051	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.595	0.75868	M	3.14	0.07920	T	-0.46	0.14978	N	0.096	0.07673	-0.9238	0.45027	T	0.007	0.02558	T	9	0.040710777	0.02663	T	0.001433	0.02139	T	0.031	0.07369	.	.	0.112648838833	0.10856	0.01445387120717136	0.01402	.	.	0.307614505291	0.11547	T	0.009953	0.09029	T	-0.525268	0.00410	T	-0.81076	0.01648	T	0.0410788069309633	0.03887	T	0.383762	0.09387	T	0.03505712	0.04053	0.03836668	0.03691	0.03505712	0.04053	0.03836668	0.03690	-7.543	0.57912	D	.	.	0.165	0.36436	B	.	.	0.418013	0.07885	4.589	0.54741251432343763	0.05198	0.00647	0.02821	N	AEFBI	0.039502	0.05748	N	-1.19613799679971	0.05059	0.2297165	-1.34843414179111	0.03824	0.1791788	1.25260497986401E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.6	-0.702	0.10698	-0.345000	0.07819	.	.	-0.689000	0.04143	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5378:0.2733:0.1889	3.259	0.06439	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1623.33	476	chr1	152312125	.	C	T	1623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.88;DP=6565;ExcessHet=0;FS=18.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.94;MQRankSum=-25.01;QD=2.43;ReadPosRankSum=-1.017;SOR=1.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:432,0:432:99:.:.:0,120,1800:.	18	0	1	0
chr1	152312297	152312297	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2589C:p.R863S	Ichthyosis vulgaris, Autosomal dominant	0	1506	15	0	1	16	0.0049554	.	.	.	1195869	FLG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00455718386317	0.0027	0.00299521	0.0013	0.0084	0.0009	0	0	0.0002	0	0.0031	0.0011578	179	154602	rs149855516	0.0005	0.0005	0.0005	0.0006	0.0079	0.0005	0.0005	0.0072	0.0069	0.0079	0.0010	0	7.557e-05	7.488e-05	0.0017	0.0001	0.0008	0.0032	0.0026	0.0026	0.0026	0.0025	0.0079	0.0023	0.0023	0.0072	0.0069	0.0079	0	0.0022	0	0.0002	9.497e-05	0	0.0002	0	0.0023	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.035	0.05024	N	5.58	0.00843	T	2.34	0.00278	N	0.054	0.02559	-0.9111	0.46719	T	0.000	0.00152	T	9	0.004664898	0.00098	T	0.004557	0.11252	T	0.014	0.01968	.	.	0.0716867268079	0.06686	0.06347440224965822	0.06286	.	.	0.234674930573	0.02331	T	0.01273	0.11134	T	-0.722244	0.00027	T	-0.803691	0.01812	T	0.000580257885496856	0.00005	T	0.316468	0.06291	T	0.07270883	0.16195	0.05372356	0.09104	0.07270883	0.16195	0.05372356	0.09103	-7.778	0.59547	D	.	.	0.089	0.12181	B	.	.	-1.168666	0.00563	0.014	0.44239524625645671	0.03387	0.00025	0.00253	N	AEFBI	0.018053	0.00518	N	-1.96052580780369	0.00257	0.01101426	-2.04367172998558	0.00247	0.01089423	0.0874755642667334	0.16035	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.78	-7.55	0.01185	-1.981000	0.01580	.	.	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1634:0.4421:0.1716:0.2229	2.908	0.05374	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	5573.33	476	chr1	152312297	.	C	G	5573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=5851;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-10.1;QD=10.97;ReadPosRankSum=0.25;SOR=0.756	GT:AD:DP:GQ:PL	0/0:432,0:432:99:0,120,1800	18	0	1	0
chr1	152313210	152313210	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A1676G:p.H559R	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00189657765422	.	0.000399361	0.0002	0	0	0.0002	0	1.498e-05	0	0.0010	7.68e-05	2	26028	rs546475787	4.515e-05	5.199e-05	3.539e-05	5.5e-05	0.0005	3.641e-05	3.321e-05	0.0004	0.0004	0	2.236e-05	0	7.557e-05	0	0.0002	1.349e-05	0	0.0005	4.609e-05	5.251e-05	3.864e-05	5.388e-05	0.0008	2.113e-05	1.529e-05	0.0003	0.0002	2.418e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0008	0.426	0.09658	T	.	.	.	0.014	0.16867	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	3.75	0.03922	T	-2.69	0.57435	D	0.028	0.00618	-0.9206	0.45472	T	0.002	0.00676	T	9	0.011158943	0.00245	T	0.001897	0.03351	T	0.012	0.01476	0.288	0.24761	0.0666544352282	0.05500	0.03602995618635217	0.03549	.	.	0.217772006989	0.01185	T	0.07341	0.34691	T	-0.629432	0.00096	T	-0.77432	0.02629	T	0.0197914366734268	0.00681	T	0.273273	0.04638	T	0.04894962	0.08613	0.05987489	0.11311	0.04894962	0.08612	0.05987489	0.11311	-0.762	0.00771	T	.	.	0.063	0.01449	B	.	.	-1.094528	0.00647	0.018	0.45361173064219068	0.03554	0.00911	0.03557	N	AEFBI	0.026568	0.02019	N	-1.48082580744116	0.01985	0.08719701	-1.50646139200944	0.02294	0.1052737	1.27825548560164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.04	0.879	0.18290	-0.575000	0.05953	.	.	-1.621000	0.00868	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1742:0.0:0.8258	4.633	0.11897	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6120.33	480	chr1	152313210	.	T	C	6120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.691;DP=5498;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-0.89;QD=13.82;ReadPosRankSum=-0.329;SOR=0.56	GT:AD:DP:GQ:PL	0/0:389,0:389:99:0,120,1800	18	0	1	0
chr1	152351956	152351956	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G5830A:p.G1944R	.	424	1096	2	0	0	2	0.000911577	.	.	.	2357930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00265941374319	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001811	28	154602	rs200946758	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.987e-05	6.708e-05	0.0001	0	3.744e-05	0.0002	0.0002	0.0002	9.275e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.741e-05	0.0001	0.0001	0.0001	0	6.57e-05	0.0003	0	0	0	0.0002	0	0	0.024	0.47745	D	0.04	0.50809	D	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	1	0.08975	N	2.21	0.62235	M	2.58	0.13434	T	-2.03	0.46673	N	0.084	0.06059	-1.0616	0.11361	T	0.029	0.12365	T	9	0.12764505	0.24275	T	0.002659	0.05434	T	0.024	0.04979	0.331	0.31681	0.297718772494	0.29385	0.022493717860643355	0.02201	0.182947641025	0.20578	0.240398734808	0.02827	T	0.004178	0.03591	T	-0.554601	0.00274	T	-0.725555	0.04532	T	0.0745290028822227	0.09273	T	0.475652	0.14239	T	0.10440917	0.24682	0.0881897	0.20548	0.10440917	0.24682	0.0881897	0.20548	-7.403	0.56926	T	.	.	0.200	0.42332	B	.	.	1.690682	0.21541	15.24	0.86936826543516255	0.16875	0.10056	0.15666	N	AEFBCI	0.052603	0.09404	N	-0.368301208421924	0.26605	1.453266	-0.637324262667791	0.18537	0.9906936	1.16452378505197E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	-0.247	0.12376	-0.175000	0.09816	.	.	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5183:0.1768:0.3049	4.068	0.09349	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4366.33	224	chr1	152351956	.	C	T	4366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=2547;ExcessHet=0;FS=6.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.14;QD=14.46;ReadPosRankSum=-0.005;SOR=0.847	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	18	0	1	0
chr1	152355180	152355180	G	A	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.C2606T:p.S869F	.	460	1018	6	37	1	81	0.0378072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.0421326	3.471e-05	0	9.814e-05	0	0	3.074e-05	0	6.602e-05	0.0014165	219	154602	rs34309186	0.0003	0.0011	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	3.035e-05	0.0003	0.0012	0.0009	0.0004	0	0.0001	0.0004	0.0018	0.0002	0.0008	0.0002	0.0001	0.0007	0.0001	9.462e-05	0.0001	6.591e-05	0.0001	0	0	0.0005	0.0005	0.0004	0	0.0002	0	0.0007	0.042	0.41637	D	0.049	0.48336	D	0.999	0.77913	D	0.921	0.65636	D	.	.	.	.	1	0.08975	N	1.775	0.45938	L	2.76	0.11515	T	-3.97	0.73684	D	0.114	0.10198	-1.1202	0.02319	T	0.037	0.15986	T	9	0.0054998696	0.00121	T	.	.	.	0.069	0.20116	.	.	0.315314060047	0.31143	0.15468526534841695	0.15389	0.0269450213889	0.02755	0.60628849268	0.53792	T	0.024721	0.18622	T	-0.251896	0.13867	T	-0.599607	0.12845	T	0.395372569561005	0.28767	T	0.332367	0.07003	T	0.14700648	0.33625	0.16856183	0.38825	0.14700648	0.33625	0.16856183	0.38824	-6.683	0.51682	T	.	.	0.399	0.59499	A	.	.	2.138798	0.27237	17.39	0.96483086211757407	0.29977	0.07754	0.13754	N	AEFGBI	0.075315	0.15122	N	-0.0215131862612841	0.40883	2.435619	-0.245400858022868	0.29930	1.680899	4.77048163708572E-4	0.07095	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	3.46	3.46	0.38718	1.665000	0.37066	.	.	0.569000	0.28856	0.089000	0.22556	0.001000	0.17328	0.004000	0.06068	0.0:0.0:1.0:0.0	12.503	0.55309	562	0.71143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	1443.41	617	chr1	152355180	.	G	A	1443.41	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.43;DP=4963;ExcessHet=0;FS=33.054;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.091;MQ=59.04;MQRankSum=-14.03;QD=3.05;ReadPosRankSum=-7.842;SOR=3.47	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:507,0:507:0:.:.:0,0,11295:.	10	0	1	8
chr1	152356170	152356170	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G1616A:p.R539H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00224247427571	7.7e-05	0.000399361	0.0001	9.61e-05	0	0.0001	0	8.99e-05	0	0.0003	0.0001035	16	154602	rs146826451	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	7.652e-05	0	0	0	0.0002	6.623e-05	0.0002	0.0001	0.0001	0.0001	8.073e-05	0.0008	6.517e-05	5.327e-05	0.0003	0.0002	7.235e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.128	0.26965	T	0.143	0.33219	T	0.975	0.58077	D	0.284	0.40463	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.96	0.22270	T	-0.52	0.16187	N	0.039	0.01274	-1.0018	0.29401	T	0.009	0.03359	T	9	0.02932924	0.01060	T	0.002242	0.04260	T	0.062	0.17934	.	.	0.224531998449	0.22054	0.06418679163347962	0.06357	0.0286366123003	0.02943	0.328885793686	0.14765	T	0.003125	0.02525	T	-0.55522	0.00271	T	-0.734988	0.04104	T	0.0329353256251841	0.02460	T	0.251575	0.03811	T	0.050055444	0.08985	0.045501113	0.06137	0.050055444	0.08984	0.045501113	0.06136	-2.002	0.03188	T	.	.	0.126	0.26794	B	.	.	1.827714	0.23222	15.93	0.82664128083105082	0.14310	0.11278	0.16527	N	AEFBCI	0.041804	0.06403	N	-0.636574827861413	0.17854	0.9222309	-0.759071453587636	0.15499	0.8154612	4.65471546857082E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.12	2.17	0.26736	0.417000	0.20934	.	.	0.429000	0.20894	0.091000	0.22601	0.000000	0.08366	0.807000	0.38039	0.0:0.8723:0.0:0.1277	8.220	0.30699	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	12061.3	269	chr1	152356170	.	C	T	12061.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=3557;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.35;SOR=0.88	GT:AD:DP:GQ:PL	0/0:218,0:218:99:0,120,1800	18	0	1	0
chr1	152409811	152409811	C	T	exonic	CRNN	.	nonsynonymous SNV	CRNN:NM_016190:exon3:c.G1271A:p.R424H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000747334997899	.	.	4.943e-05	0	0	0.0001	0	1.499e-05	0	0.0002	5.17e-05	8	154602	rs150002541	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	0	0	0	2.519e-05	0	0	1.709e-05	3.311e-05	0.0003	1.969e-05	1.968e-05	2.57e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.591	0.05790	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.930585	0.07533	N	1.038600	1	0.08975	N	0	0.06538	N	3.64	0.04309	T	0.2	0.04861	N	0.026	0.00527	-0.8990	0.48094	T	0.003	0.00929	T	10	0.058475614	0.06879	T	7.47E-4	0.00529	T	0.010	0.01040	0.285	0.24280	0.0297737177859	0.01360	0.03401236192713288	0.03349	0.0763001356589	0.08565	0.192210108042	0.00266	T	0.001538	0.00977	T	-0.62528	0.00102	T	-0.861648	0.00825	T	0.0108537413179874	0.00155	T	0.435856	0.11948	T	0.022481566	0.00914	0.022030745	0.00237	0.022481566	0.00914	0.022030745	0.00237	-3.984	0.23563	T	.	.	0.069	0.03128	B	.	.	0.002527	0.04298	1.082	0.56989232421642622	0.05671	0.02020	0.06069	N	AEFBI	0.063937	0.12387	N	-1.55898422076667	0.01483	0.06472306	-1.59420409715888	0.01690	0.07678631	5.85274553533552E-4	0.07390	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	7.04E-4	0.13366	-1.078000	0.03524	.	.	-0.354000	0.05547	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5968:0.1715:0.2317	5.282	0.14993	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2159.33	43	chr1	152409811	.	C	T	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=848;ExcessHet=0;FS=2.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.858;SOR=0.942	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr1	152759907	152759907	G	A	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.G319A:p.V107I	.	430	1072	18	2	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00143544866918	0.0010	0.00179712	0.0019	0.0003	0.0005	0	0.0003	0.0012	0.0033	0.0083	0.0016882	261	154602	rs141893273	0.0014	0.0014	0.0012	0.0016	0.0081	0.0013	0.0013	0.0076	0.0074	8.965e-05	0.0013	0.0054	0	0.0002	0.0033	0.0009	0.0015	0.0081	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0012	0.0050	0.0044	0.0004	0	0.0046	0.0072	0	0	0.0068	0.0010	0.0014	0.0069	.	.	.	0.166	0.30828	T	0.001	0.07471	B	0.01	0.14941	B	0.197705	0.16681	N	0.502898	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	0.135	0.13198	-0.9933	0.31749	T	0.013	0.05081	T	10	0.0041950047	0.00083	T	0.001435	0.02139	T	.	.	.	.	0.0986583533028	0.09354	0.0326603906186976	0.03214	.	.	0.262207508087	0.05156	T	0.011288	0.10090	T	-0.583315	0.00184	T	-0.605963	0.12315	T	0.00202387368533371	0.00021	T	0.352865	0.07937	T	0.031186612	0.02914	0.034994595	0.02667	0.031186612	0.02914	0.034994595	0.02667	-5.355	0.40484	T	.	.	0.082	0.08948	B	.	.	0.144917	0.05383	1.861	0.57246240920058877	0.05727	0.06025	0.11992	N	AEFDGBHIJ	0.040569	0.06054	N	-0.85380326589887	0.11956	0.5799864	-0.853312163780188	0.13208	0.6839292	0.999999999064034	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	3.73	0.41982	0.675000	0.24912	.	.	-0.119000	0.14319	0.001000	0.13787	0.006000	0.19429	0.001000	0.02609	0.1692:0.0:0.8308:0.0	9.188	0.36341	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	2316.33	303	chr1	152759907	.	G	A	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.23;DP=2064;ExcessHet=0;FS=2.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.015;SOR=0.906	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	18	0	1	0
chr1	152787513	152787513	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G214A:p.G72R	.	413	1066	39	4	0	47	0.0215695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00207463516295	0.0036	0.00159744	0.0048	0.0012	0.0038	0.0001	0.0032	0.0069	0.0089	0.0019	0.0042237	653	154602	rs148840667	0.0042	0.0042	0.0042	0.0043	0.0339	0.0042	0.0041	0.0300	0.0285	0.0010	0.0051	0.0285	2.519e-05	0.0040	0.0339	0.0037	0.0071	0.0030	0.0043	0.0043	0.0040	0.0046	0.0084	0.0040	0.0039	0.0072	0.0067	0.0007	0.0022	0.0084	0.0279	0.0002	0.0039	0.0238	0.0046	0.0099	0.0015	.	.	.	0.051	0.57587	T	0.997	0.70673	D	0.938	0.67350	D	0.052066	0.22926	N	0.222152	0.969984	0.25727	N	2.25	0.63811	M	3.68	0.04151	T	-1.88	0.43906	N	0.436	0.52029	-1.0889	0.05718	T	0.020	0.08500	T	10	0.008031726	0.00182	T	0.002075	0.03801	T	0.043	0.11576	0.175	0.08135	0.481321013822	0.47762	0.013290108626746108	0.01287	0.00415157904713	0.00368	0.458572030067	0.33115	T	0.008196	0.07540	T	-0.495427	0.00607	T	-0.482781	0.24152	T	0.0218803990945803	0.00896	T	0.291471	0.05330	T	0.5777508	0.71485	0.5177344	0.72136	0.5777508	0.71486	0.5177344	0.72136	-9.404	0.70260	D	.	.	0.223	0.46733	B	.;.;.	.;.;.	1.835216	0.23315	15.97	0.90672521180524235	0.19923	0.80367	0.40024	D	AEFBI	0.092124	0.18654	N	0.333941297055397	0.57897	3.959134	0.223333107658521	0.51145	3.29961	0.00429983819074504	0.10491	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	3.12	0.34986	2.012000	0.40551	.	.	0.563000	0.28513	0.996000	0.39380	0.003000	0.18671	0.648000	0.32638	0.0:0.0:0.779:0.221	9.013	0.35317	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027630	0.020202	0.035422	0.065574	0.000000	0.017241	0.018519	0.003788	0.02632	1246.33	80	chr1	152787513	.	G	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=1087;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-4.68;QD=14;ReadPosRankSum=-0.418;SOR=0.557	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr1	152805162	152805162	C	T	exonic	LCE1C	.	nonsynonymous SNV	LCE1C:NM_178351:exon2:c.G317A:p.C106Y,LCE1C:NM_001276331:exon3:c.G227A:p.C76Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	706702	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0077	0.0061901	0.0022	0.0255	0.0014	0	0	3.094e-05	0	0.0001	0.0020116	311	154602	rs115724302	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0227	0.0246	0.0013	0	0	0	0.0005	3.6e-06	0.0020	0.0002	0.0071	0.0071	0.0077	0.0064	0.0248	0.0067	0.0066	0.0236	0.0231	0.0248	0	0.0024	0	0	0	0	0	0.0052	0	.	.	.	0.001	0.83351	D	0.991	0.64070	D	0.991	0.79672	D	0.001880	0.37789	N	0.000000	0.994016	0.23604	N	2.095	0.58118	M	.	.	.	.	.	.	0.545	0.57177	-1.1314	0.01716	T	0.023	0.09787	T	10	0.005890101	0.00132	T	.	.	.	.	.	.	.	0.220303561663	0.21668	0.04028683081758108	0.03974	.	.	.	.	.	0.043552	0.26538	T	-0.454581	0.01061	T	-0.406826	0.32592	T	0.0420404267433696	0.04063	T	0.435556	0.11926	T	0.727241	0.79568	0.5787187	0.75586	0.727241	0.79569	0.5787187	0.75586	-10.372	0.76109	D	.	.	0.361	0.57274	A	.	.	2.522431	0.32594	19.09	0.57249602390662235	0.05728	0.88815	0.48927	D	AEFBI	0.116665	0.22888	N	0.379536701260236	0.60315	4.219036	0.218351828687196	0.50864	3.274237	3.74282006560157E-4	0.06745	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	2.92	0.32998	3.471000	0.52871	.	.	0.510000	0.23265	0.718000	0.28801	1.000000	0.68203	0.314000	0.24830	0.0:1.0:0.0:0.0	9.535	0.38381	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1155.33	62	chr1	152805162	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.068;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.275;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr1	152910295	152910354	AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.498_557del:p.K174_L193del	.	406	1113	2	0	1	3	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0018	0.0015	0.0017	0.0033	0.0016	0.0015	0.0022	0.0018	0.0004	0.0012	0.0034	2.528e-05	0.0014	0.0033	0.0016	0.0024	0.0017	0.0033	0.0036	0.0033	0.0033	0.0054	0.0030	0.0029	0.0044	0.0040	0.0010	0	0.0054	0.0042	0	0.0010	0.0041	0.0046	0.0047	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1373.79	36	chr1	152910294	.	TAGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	T	1373.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.923;DP=784;ExcessHet=0.119;FS=7.308;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.3;MQRankSum=0.016;QD=10.18;ReadPosRankSum=0.6;SOR=1.324	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	17	0	2	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4491.75	16	chr1	152910506	.	C	*	4491.75	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.102;DP=774;ExcessHet=1.0583;FS=1.511;InbreedingCoeff=-0.0149;MLEAC=2;MLEAF=0.056;MQ=56.04;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.832;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:91:0,91,1053	16	0	2	1
chr1	152985356	152985356	C	0	exonic	SPRR1A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	21309.5	130	chr1	152985356	.	C	*	21309.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=1538;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=17.23;ReadPosRankSum=-0.314;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	18	0	1	0
chr1	153032507	153032507	C	0	exonic	SPRR1B	.	.	.	.	506	390	437	182	7	808	0.506641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	26379.6	227	chr1	153032507	.	C	*	26379.6	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.7;DP=2119;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=4;MLEAF=0.105;MQ=59.58;MQRankSum=0;QD=14.45;ReadPosRankSum=0.487;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,70:176:99:.:.:2464,0,4145:.	16	1	2	0
chr1	153347932	153347932	T	A	exonic	PGLYRP4	.	startloss	PGLYRP4:NM_020393:exon2:c.A1T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023429425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.96	0.55278	D	0.924	0.65913	D	0.209952	0.16390	N	0.490245	1	0.81001	D	.	.	.	3.48	0.05130	T	-0.85	0.23372	N	0.735	0.74918	-1.1575	0.00818	T	0.028	0.12147	T	9	0.9721509	0.96850	D	0.160647	0.84060	D	0.249	0.55752	0.903	0.97901	0.442466506703	0.43865	0.3059679146464674	0.30509	.	.	.	.	.	0.132492	0.46260	T	0.163416	0.70517	D	-0.00304099	0.70139	D	0.988653719425201	0.78959	D	0.9	0.65058	D	0.9300895	0.94246	0.7241401	0.83707	0.9300895	0.94247	0.7241401	0.83708	-7.089	0.54681	T	.	.	.	.	.	.;.	.;.	1.995372	0.25349	16.73	0.96536245455976655	0.30168	0.67812	0.33569	D	AEFBI	0.019285	0.00656	N	0.123418340542721	0.47556	2.979742	0.0954159337662976	0.44319	2.715843	0.946600180555488	0.27714	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	1.551000	0.35841	2.869000	0.35254	0.665000	0.62972	0.963000	0.33788	0.999000	0.35428	0.067000	0.16453	0.0:0.0:0.0:1.0	8.499	0.32308	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	831.33	36	chr1	153347932	.	T	A	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-1.248;SOR=0.763	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr1	153535203	153535203	G	A	exonic	S100A6	.	nonsynonymous SNV	S100A6:NM_014624:exon2:c.C137T:p.S46L	.	409	1109	4	0	0	4	0.00180018	0.0001	0.18	.	2761249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00388629996236	.	.	0.0001	0	0	0	0	0.0002	0	0	0.0001358	21	154602	rs201689788	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	5.974e-05	2.236e-05	0	0	0	0.0010	0.0003	0.0003	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.241e-05	0.0002	0.0001	4.827e-05	0	6.546e-05	0	0	0	0	0.0003	0.0010	0.0002	0.219	0.19023	T	0.273	0.23707	T	0.0	0.02946	B	0.0	0.01387	B	0.062036	0.02151	N	2.325170	1	0.08975	N	.	.	.	3.33	0.06138	T	-1.47	0.35991	N	0.094	0.09349	-0.9216	0.45334	T	0.004	0.01125	T	9	0.063851506	0.08380	T	0.003886	0.09117	T	0.042	0.11227	.	.	0.238096912614	0.23440	0.21583721017790716	0.21499	0.151351034998	0.17085	0.270739167929	0.06237	T	0.155607	0.49742	T	-0.548763	0.00297	T	-0.721489	0.04724	T	0.0752076357603073	0.09364	T	0.305369	0.05850	T	0.14388987	0.33052	0.08797365	0.20483	0.14388987	0.33052	0.08797365	0.20482	-3.229	0.12838	T	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	2.307462	0.29537	18.15	0.91314999949659104	0.20576	0.09088	0.14913	N	AEFDGBHCI	0.273369	0.38879	N	-0.421359506755625	0.24721	1.336889	-0.591774795817681	0.19706	1.058514	0.999999972216913	0.74766	0.733237	0.96898	0	0.851219	0.99844	0	0.493711	0.08198	1	0.621717	0.48901	0	.	.	4.82	-1.12	0.09306	0.122000	0.15515	0.831000	0.21948	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1875:0.0:0.3927:0.4199	4.110	0.09526	830	0.39242	S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1392.33	40	chr1	153535203	.	G	A	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=779;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.167;SOR=0.46	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1406,0,1352	18	0	1	0
chr1	153544677	153544677	G	A	exonic	S100A4	.	nonsynonymous SNV	S100A4:NM_002961:exon2:c.C118T:p.R40W,S100A4:NM_019554:exon3:c.C118T:p.R40W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0375060662816	.	0.000199681	0.0001	0.0002	8.637e-05	0	0	4.496e-05	0	0.0007	0.0001229	19	154602	rs576307674	4.994e-05	4.994e-05	3.675e-05	6.325e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	5.974e-05	2.236e-05	0	2.519e-05	0	0.0010	1.169e-05	0.0002	0.0005	5.91e-05	5.906e-05	5.141e-05	6.714e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.007e-05	7.221e-05	0	0	0	0	0	0	4.411e-05	0	0.0006	0.009	0.57480	D	0.004	0.74150	D	0.996	0.68779	D	0.96	0.70309	D	0.150612	0.17980	N	0.540673	0.651903	0.30526	N	2.24	0.63355	M	2.86	0.10482	T	-4.05	0.74504	D	0.414	0.45426	-1.1132	0.02809	T	0.030	0.12892	T	10	0.23982707	0.41130	T	0.037506	0.57658	D	0.075	0.21907	0.509	0.60540	0.717020191167	0.71453	0.4687445027751802	0.46793	0.548597812381	0.51797	0.432840526104	0.29596	T	0.358109	0.72472	T	-0.394811	0.02503	T	-0.448517	0.27861	T	0.356687754392624	0.27279	T	0.969003	0.88824	D	0.19147393	0.40776	0.18557078	0.41678	0.19147393	0.40776	0.18557078	0.41677	-9.744	0.72365	D	.	.	0.281	0.51592	B	.;.;.;.	.;.;.;.	4.501317	0.70410	25.5	0.99903420431661694	0.97502	0.07059	0.13085	N	AEFDGBCI	0.493427	0.52965	N	0.0932795210384736	0.46149	2.859828	-0.0340708783299594	0.38188	2.246271	0.999989313078375	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.662677	0.59975	0	0.550183	0.17644	0	.	.	4.83	1.55	0.22356	1.015000	0.29565	1.427000	0.26414	0.676000	0.76740	0.001000	0.13787	0.008000	0.19753	0.979000	0.57723	0.0:0.0:0.4397:0.5603	9.942	0.40754	830	0.39242	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	2895.83	143	chr1	153544677	.	G	A	2895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=959;ExcessHet=0.119;FS=4.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=3.45;SOR=0.5	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	17	0	2	0
chr1	153563811	153563811	G	A	exonic	S100A2	.	stopgain	S100A2:NM_001366406:exon1:c.C67T:p.Q23X,S100A2:NM_005978:exon2:c.C67T:p.Q23X	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs532172691	9.782e-05	9.782e-05	8.44e-05	0.0001	0.0016	8.443e-05	7.921e-05	0.0008	0.0006	5.974e-05	0.0007	0	0	0.0003	0.0016	5.306e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0027	0.0002	0.0002	0.0021	0.0019	0	0	0.0027	0	0	9.413e-05	0	5.881e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.330627	0.14120	N	0.656229	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.776	0.77319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0670805	0.41793	T	0.0516059	0.73689	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;.	High;High;High;High;.	4.955604	0.81901	27.7	0.99277513730859002	0.57799	0.06675	0.12694	N	AEFDBCI	0.069939	0.13863	N	-0.0776897694623992	0.38371	2.246434	-0.433646352386349	0.24017	1.312832	0.999985075026472	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.21	-3.4	0.04549	0.143000	0.15936	-0.703000	0.07785	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.0817:0.0:0.3138:0.6045	8.793	0.34019	789	0.46346	.;.;.;.;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	37	chr1	153563811	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=799;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.857;SOR=0.461	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:88,49:137:99:291,0,1209	7	0	10	2
chr1	153778771	153778771	A	G	exonic	SLC27A3	.	nonsynonymous SNV	SLC27A3:NM_001317929:exon7:c.A1532G:p.K511R,SLC27A3:NM_024330:exon7:c.A1532G:p.K511R	.	435	1076	11	0	0	11	0.00508553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0088198989567	0.0002	0.000798722	0.0010	0	0.0002	0	0.0005	0.0002	0.0011	0.0059	0.0008085	125	154602	rs147963978	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0004	0.0053	0.0052	0	2.236e-05	0.0005	5.038e-05	0.0003	0.0023	0.0001	0.0007	0.0057	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	0	0	0	0.0003	0	0.0005	0.0034	7.354e-05	0.0005	0.0044	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.997138	0.43655	D	.	.	.	1.02	0.40749	T	-2.77	0.61284	D	0.693	0.75374	-0.3021	0.74926	T	0.340	0.70632	T	10	0.010057867	0.00225	T	0.00882	0.23269	T	0.366	0.68582	.	.	0.350746614512	0.34690	0.47252226934639613	0.47171	0.527504655777	0.50356	0.523719668388	0.42149	T	0.176454	0.52641	T	-0.256336	0.13331	T	-0.138928	0.60210	T	0.146682464233393	0.16836	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43680	B	.;.;.;.	.;.;.;.	4.502316	0.70423	25.5	0.99873770382109428	0.95076	0.96622	0.70067	D	AEFDBI	0.908123	0.86301	D	0.48109934059185	0.65986	4.892162	0.504348028882507	0.68281	5.198654	0.999999999996905	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.14	5.14	0.70008	6.291000	0.72708	7.996000	0.76131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	12.973	0.57923	74	0.96871	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	1030.33	33	chr1	153778771	.	A	G	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.823;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.138;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	18	0	1	0
chr1	153779973	153779973	G	A	exonic	SLC27A3	.	nonsynonymous SNV	SLC27A3:NM_001317929:exon10:c.G1918A:p.A640T,SLC27A3:NM_024330:exon10:c.G2023A:p.A675T	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.00717348276086	0.0010	0.000798722	0.0014	0.0007	0.0003	0.0001	0	0.0013	0.0037	0.0041	0.0011125	172	154602	rs35517522	0.0007	0.0007	0.0006	0.0008	0.0097	0.0007	0.0007	0.0077	0.0069	0.0008	0.0003	0.0064	2.52e-05	0	0.0097	0.0004	0.0013	0.0029	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0006	0.0011	0.0009	0.0006	0	0.0005	0.0052	0.0002	0	0.0136	0.0005	0.0024	0.0021	0.194	0.34621	T	0.167	0.30729	T	.	.	.	.	.	.	0.045485	0.23532	N	0.431406	0.999991	0.08975	N	.	.	.	0.36	0.57880	T	-1.11	0.28703	N	0.194	0.21319	-1.0811	0.07137	T	0.044	0.18989	T	10	0.0065431893	0.00148	T	0.007173	0.19006	T	0.175	0.44197	.	.	0.229924730088	0.22615	0.3821649211926388	0.38131	0.244494998227	0.26952	0.391278922558	0.23850	T	0.033931	0.23116	T	-0.35473	0.04437	T	-0.285058	0.46283	T	0.0101353498206119	0.00137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.;.;.	.;.;.	1.506426	0.19358	14.22	0.96584522577333298	0.30347	0.16455	0.19397	N	AEFBI	0.408782	0.48032	N	-0.628304427684883	0.18098	0.9368583	-0.6814737561286	0.17424	0.9264406	0.999904181925483	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.526803	0.08958	0	.	.	4.36	2.34	0.28071	1.557000	0.35906	5.739000	0.49563	-0.182000	0.10109	0.006000	0.17386	1.000000	0.68203	0.003000	0.05239	0.1078:0.0:0.6866:0.2057	5.003	0.13617	72	0.96948	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.000000	0.006793	0.011696	0.000000	0.008621	0.009202	0.007576	0.02632	2064.33	35	chr1	153779973	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=812;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.34;SOR=0.911	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	18	0	1	0
chr1	153969060	153969060	C	T	exonic	CREB3L4	.	nonsynonymous SNV	CREB3L4:NM_001255978:exon3:c.C305T:p.P102L,CREB3L4:NM_001255979:exon3:c.C305T:p.P102L,CREB3L4:NM_001255980:exon3:c.C245T:p.P82L,CREB3L4:NM_001255981:exon3:c.C245T:p.P82L,CREB3L4:NM_130898:exon3:c.C305T:p.P102L	.	426	1072	23	0	1	24	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0237530776103	0.0021	0.00159744	0.0021	0.0005	0.0023	0	0.0003	0.0030	0.0055	0.0008	0.0020246	313	154602	rs145524837	0.0020	0.0020	0.0020	0.0020	0.0208	0.0020	0.0020	0.0178	0.0166	0.0011	0.0026	0.0103	0	7.488e-05	0.0208	0.0019	0.0033	0.0009	0.0020	0.0020	0.0020	0.0020	0.0052	0.0018	0.0017	0.0042	0.0039	0.0003	0	0.0052	0.0144	0	9.409e-05	0.0204	0.0020	0.0043	0.0012	0.035	0.44029	D	0.091	0.40110	T	0.009	0.15093	B	0.006	0.12133	B	0.116301	0.19199	N	0.526054	0.999999	0.81001	D	1.545	0.39105	L	1.5	0.31205	T	-4.11	0.74980	D	0.1	0.13626	-1.1149	0.02681	T	0.056	0.23450	T	9	0.0041995347	0.00084	T	0.023753	0.46723	T	0.045	0.12272	.	.	0.59394422163	0.59072	0.20103837455742993	0.20020	0.0457446897951	0.04968	0.373551338911	0.21341	T	0.109296	0.70926	T	-0.515253	0.00469	T	-0.510568	0.21257	T	0.036404728261075	0.03051	T	0.741226	0.36808	T	0.07794568	0.17721	0.1271747	0.30618	0.07794568	0.17721	0.1271747	0.30617	-4.292	0.28065	T	.	.	0.073	0.05979	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.546140	0.19823	14.45	0.88629529250892269	0.18128	0.24129	0.22297	N	AEFDBCI	0.241948	0.36349	N	-0.334680935260879	0.27839	1.530635	-0.336698483472447	0.26924	1.490462	0.999999726237806	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.444512	0.06955	0	.	.	4.71	3.79	0.42757	0.353000	0.19868	1.268000	0.25273	0.530000	0.24713	0.028000	0.20300	0.001000	0.17328	0.795000	0.37519	0.0:0.8364:0.1636:0.0	12.993	0.58035	75	0.96833	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1284.33	37	chr1	153969060	.	C	T	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=771;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.843;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr1	153973997	153973997	G	A	exonic	CREB3L4	.	nonsynonymous SNV	CREB3L4:NM_001255978:exon10:c.G1120A:p.E374K,CREB3L4:NM_001255979:exon10:c.G1120A:p.E374K,CREB3L4:NM_001255980:exon10:c.G1060A:p.E354K,CREB3L4:NM_001255981:exon10:c.G1060A:p.E354K,CREB3L4:NM_130898:exon10:c.G1120A:p.E374K	.	431	1088	3	0	0	3	0.00137678	.	.	.	2337619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0116194470486	0.0002	0.000399361	0.0002	9.682e-05	0.0002	0	0	0.0004	0	0	0.0002135	33	154602	rs146920889	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0	0	3.744e-05	0.0019	0.0002	0.0002	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0002	0.0008	0.0006	4.81e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.11	0.37310	T	0.608	0.39540	P	0.24	0.38599	B	0.955125	0.08261	N	0.980252	0.999995	0.08975	N	1.995	0.54099	M	-0.23	0.66652	T	-0.68	0.19509	N	0.069	0.08227	-1.0016	0.29459	T	0.138	0.45545	T	10	0.028452069	0.00977	T	0.011619	0.29427	T	0.055	0.15663	.	.	0.733982189669	0.73161	0.3313243689223777	0.33045	0.0381371829516	0.04051	0.39432734251	0.24278	T	0.041843	0.25991	T	-0.351524	0.04632	T	-0.422706	0.30766	T	0.0357662457972668	0.02939	T	0.771423	0.40183	T	0.09862871	0.23266	0.07946556	0.17893	0.09862871	0.23266	0.07946556	0.17892	-3.878	0.23218	T	.	.	0.085	0.10159	B	.;.;.;.	.;.;.;.	1.298079	0.16994	12.89	0.99409295683175092	0.63216	0.60805	0.31301	D	AEFDBHCI	0.101949	0.20463	N	-0.671736097230687	0.16830	0.8609127	-0.705906430590681	0.16813	0.8912162	0.999957624001654	0.48110	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.28	1.17	0.19998	0.295000	0.18821	0.770000	0.21388	0.676000	0.76740	0.270000	0.25046	0.351000	0.24472	0.059000	0.15899	0.2666:0.1588:0.5746:0.0	4.747	0.12416	75	0.96833	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1723.33	33	chr1	153973997	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=801;ExcessHet=0;FS=4.132;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.6;SOR=1.074	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1530	18	0	1	0
chr1	153982788	153982788	C	A	exonic	RAB13	.	nonsynonymous SNV	RAB13:NM_001272038:exon5:c.G102T:p.E34D,RAB13:NM_002870:exon5:c.G345T:p.E115D	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0416179679882	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773169319	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.139	0.33666	T	0.136	0.27347	B	0.115	0.31843	B	0.000723	0.42129	D	0.257582	0.947438	0.26600	N	0.81	0.20779	L	-1.3	0.79571	T	-2.57	0.55501	D	0.357	0.40963	-0.8506	0.51926	T	0.200	0.55612	T	10	0.21829823	0.38467	T	0.041618	0.60024	D	0.212	0.50341	0.328	0.31196	0.677488429002	0.67474	0.528053621543825	0.52729	0.549042539457	0.51823	0.661719441414	0.61655	T	0.337889	0.70722	T	-0.0440923	0.45341	T	-0.301112	0.44607	T	0.250667333602905	0.22903	T	0.964804	0.86967	D	0.11533269	0.27217	0.13084112	0.31431	0.11533269	0.27216	0.13084112	0.31430	-6.299	0.48714	T	.	.	0.611	0.69341	P	.;.	.;.	2.430379	0.31268	18.69	0.99240611120602362	0.56533	0.63134	0.31995	D	AEFGBHCI	0.357647	0.44860	N	-0.623043979964294	0.18254	0.946189	-0.527647244109789	0.21404	1.157709	0.99392746965302	0.33413	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	1.95	0.25130	-0.282000	0.08478	0.562000	0.19521	-0.172000	0.11096	0.324000	0.25538	0.997000	0.33255	0.941000	0.48210	0.0:0.6838:0.0:0.3162	9.854	0.40241	78	0.96748	.;Small GTP-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1224.33	42	chr1	153982788	.	C	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=756;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.19;SOR=0.911	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1238,0,1158	18	0	1	0
chr1	153995109	153995109	C	T	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon36:c.G5002A:p.A1668T,NUP210L:NM_207308:exon38:c.G5458A:p.A1820T	.	439	1072	11	0	0	11	0.00510441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0175287414963	0.0002	0.000599042	0.0008	0	0.0002	0	0.0002	0.0002	0.0011	0.0053	0.0006921	107	154602	rs372943328	0.0004	0.0004	0.0002	0.0006	0.0053	0.0004	0.0004	0.0049	0.0047	2.987e-05	2.236e-05	0.0005	5.039e-05	1.872e-05	0.0019	8.185e-05	0.0007	0.0053	0.0002	0.0002	5.152e-05	0.0003	0.0040	0.0001	0.0001	0.0026	0.0022	0	0	0	0.0003	0	0.0002	0	5.884e-05	0	0.0040	0.158	0.23905	T	0.006	0.70582	D	0.7	0.41856	P	0.251	0.39041	B	0.011206	0.29618	N	0.288744	0.820022	0.34762	D	2.295	0.65404	M	3.33	0.56281	T	-1.85	0.43334	N	0.405	0.44570	-0.8783	0.49896	T	0.068	0.27845	T	10	0.007681966	0.00175	T	0.017529	0.39265	T	0.095	0.27398	.	.	0.574600906166	0.57128	0.6347256657076427	0.63406	0.484920314043	0.47395	0.294328480959	0.09557	T	0.089949	0.38481	T	-0.390086	0.02687	T	-0.331604	0.41290	T	0.0557931095650136	0.06489	T	0.679032	0.28770	T	0.06872378	0.14997	0.11674445	0.28182	0.06872378	0.14997	0.11674445	0.28182	-4.55	0.35543	T	.	.	0.100	0.28948	B	.;.;.	.;.;.	3.231382	0.44070	21.9	0.99646662279564502	0.77005	0.77381	0.38040	D	AEFBHCI	0.326634	0.42784	N	0.130298233858409	0.47880	3.007647	0.246887347096809	0.52473	3.421854	0.999999995923981	0.74766	0.498214	0.20090	0	0.573116	0.20632	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	3.413000	0.52440	2.678000	0.33996	0.579000	0.29447	1.000000	0.71638	0.848000	0.27364	0.986000	0.61781	0.0:1.0:0.0:0.0	16.535	0.84218	82	0.96572	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	963.33	34	chr1	153995109	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.452;DP=837;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.253;SOR=0.755	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1396	18	0	1	0
chr1	154070344	154070344	G	A	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon17:c.C2483T:p.A828V,NUP210L:NM_207308:exon17:c.C2483T:p.A828V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.0307215721532	.	.	8.287e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs756386749	2.464e-05	2.463e-05	2.043e-05	2.889e-05	3.238e-05	1.804e-05	1.601e-05	2.37e-05	2.104e-05	0	0	0	0	0	0	3.238e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.0	0.92824	D	0.952	0.54136	P	0.536	0.48739	P	0.001494	0.38855	N	0.113620	0.72254	0.29908	N	2.755	0.80505	M	-1.41	0.80560	T	-3.35	0.66436	D	0.431	0.50508	-0.1962	0.77769	T	0.440	0.77878	T	10	0.6386477	0.68928	D	0.030722	0.52967	D	0.633	0.85924	0.635	0.77142	0.924462296912	0.92369	0.6742257986394383	0.67360	0.497859118466	0.48274	0.619470953941	0.55654	T	0.587448	0.86584	D	0.0984714	0.64126	D	-0.0808431	0.64843	T	0.944476723670959	0.62068	D	0.774123	0.40598	T	0.28134534	0.51177	0.27739632	0.53692	0.28134534	0.51177	0.27739632	0.53691	-8.766	0.66178	D	.	.	0.209	0.43599	B	.;.	.;.	4.048973	0.59999	24.2	0.99917136361437264	0.98518	0.95872	0.66516	D	AEFI	0.510885	0.53974	D	0.564672343590272	0.70979	5.581856	0.575947385113588	0.73218	5.934891	0.0758923074455153	0.15710	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	4.872000	0.62744	9.614000	0.81092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.647	0.76818	86	0.96395	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1327.33	37	chr1	154070344	.	G	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.992;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.744;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1007	18	0	1	0
chr1	154191927	154191927	T	G	exonic	TPM3	.	nonsynonymous SNV	TPM3:NM_001364679:exon1:c.A92C:p.K31T,TPM3:NM_001364680:exon1:c.A92C:p.K31T,TPM3:NM_001364681:exon1:c.A92C:p.K31T,TPM3:NM_001364682:exon1:c.A92C:p.K31T,TPM3:NM_152263:exon1:c.A92C:p.K31T	CAP myopathy 1, Autosomal recessive, Autosomal dominant;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant;Nemaline myopathy 1, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	206725	not_provided|Congenital_myopathy_4B,_autosomal_recessive|TPM3-related_disorder|Congenital_myopathy_with_fiber_type_disproportion|not_specified	MedGen:C3661900|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881|.|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.795	.	0.0065	0.00519169	0.0015	0.0177	0.0003	0	0	0	0.0011	6.057e-05	0.0014489	224	154602	rs62000429	0.0006	0.0006	0.0006	0.0005	0.0201	0.0005	0.0005	0.0188	0.0183	0.0201	0.0007	0	0	0	0.0005	1.259e-05	0.0013	9.275e-05	0.0055	0.0055	0.0055	0.0054	0.0194	0.0052	0.0050	0.0183	0.0178	0.0194	0	0.0011	0	0	0	0	5.879e-05	0.0033	0	0.001	0.78490	D	0.013	0.63109	D	.	.	.	.	.	.	0.000001	0.84330	D	0.092703	0.992419	0.41639	D	3.52	0.92970	H	-2.4	0.88455	D	-2.62	0.82764	D	0.684	0.69037	0.739	0.93658	D	0.772	0.92234	D	10	0.008729011	0.00198	T	.	.	.	0.795	0.93266	.	.	0.952218128417	0.95171	.	.	2.4746773431	0.97514	0.74879026413	0.74268	T	0.88714	0.97678	D	-0.165932	0.25852	T	0.00513007	0.70668	D	0.0479805929192926	0.05141	T	0.985101	0.94867	D	0.50679964	0.67493	0.43033475	0.66687	0.51624787	0.68045	0.3614932	0.61572	-10.119	0.74621	D	.	.	0.524	0.71160	A	.;.;.	.;.;.	4.498725	0.70345	25.5	0.9979175231534908	0.87750	0.97845	0.77560	D	AEFBI	0.950803	0.96479	D	0.731207954837615	0.81679	7.578889	0.738077953828445	0.85266	8.528916	0.999999999999277	0.74766	0.660377	0.49826	0	0.627178	0.54094	0	0.696353	0.63694	0	0.505526	0.08623	0	.	.	5.75	5.75	0.90390	8.017000	0.88732	7.916000	0.74276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.901	0.70324	76	0.96806	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1693.33	39	chr1	154191927	.	T	G	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.574;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr1	154348906	154348906	C	T	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon27:c.C3418T:p.R1140C,ATP8B2:NM_001370596:exon28:c.C3364T:p.R1122C,ATP8B2:NM_001370597:exon28:c.C3361T:p.R1121C,ATP8B2:NM_001372009:exon28:c.C3361T:p.R1121C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	0.0005	0.00339457	0.0039	0	0.0005	0.0097	0.0238	0.0030	0.0169	0.0013	0.0032018	495	154602	rs41308375	0.0022	0.0022	0.0021	0.0022	0.0251	0.0021	0.0021	0.0238	0.0233	0	0.0006	0.0002	0.0251	0.0230	0.0019	0.0006	0.0025	0.0010	0.0029	0.0030	0.0017	0.0042	0.0143	0.0027	0.0026	0.0116	0.0107	4.809e-05	0	0.0008	0	0.0143	0.0271	0	0.0009	0.0038	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000073	0.52346	D	0.077472	0.999991	0.58761	D	.	.	.	0.23	0.59717	T	-4.64	0.79316	D	0.468	0.50418	-0.4666	0.69844	T	0.277	0.64845	T	10	0.005283594	0.00115	T	.	.	.	0.309	0.63055	.	.	0.419120893867	0.41530	0.7675922555337732	0.76708	1.52637698366	0.87510	0.769448161125	0.77342	T	.	.	.	-0.307981	0.07928	T	-0.20863	0.53827	T	0.0748110091319069	0.09310	T	0.954105	0.82551	D	.	.	.	.	.	.	.	.	-8.235	0.62660	D	.	.	.	.	.	.	.	5.353063	0.89789	31	0.99923860577422485	0.98917	0.97077	0.72555	D	AEFDBI	0.700388	0.65742	D	0.604917833634571	0.73485	5.973812	0.551325729195769	0.71490	5.662679	0.999989269126495	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.23	4.23	0.49319	5.653000	0.67639	5.871000	0.50535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:1.0:0.0:0.0	15.331	0.73918	380	0.83728	.	.	.	.	.	rs41308375	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1021.33	36	chr1	154348906	.	C	T	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=747;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.724;SOR=1.003	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1448	18	0	1	0
chr1	154429403	154429403	G	A	exonic	IL6R	.	nonsynonymous SNV	IL6R:NM_000565:exon2:c.G293A:p.R98Q,IL6R:NM_001206866:exon2:c.G293A:p.R98Q,IL6R:NM_001382769:exon2:c.G293A:p.R98Q,IL6R:NM_001382770:exon2:c.G293A:p.R98Q,IL6R:NM_001382771:exon2:c.G293A:p.R98Q,IL6R:NM_001382772:exon2:c.G293A:p.R98Q,IL6R:NM_001382773:exon2:c.G293A:p.R98Q,IL6R:NM_181359:exon2:c.G293A:p.R98Q	.	.	.	.	.	.	.	.	.	.	.	986913	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00379774189263	.	.	7.456e-05	0	0	0	0	0.0001	0	6.101e-05	5.82e-05	9	154602	rs749494588	3.832e-05	3.831e-05	3.54e-05	4.127e-05	4.472e-05	3.026e-05	2.72e-05	2.914e-05	2.589e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	3.868e-05	0.0001	1.16e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	4.411e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0010	0	0.572	0.19639	T	0.396	0.16473	T	0.003	0.17332	B	0.0	0.01387	B	0.025425	0.01630	N	2.081920	1	0.08975	N	-0.83	0.01527	N	2.5	0.17113	T	0.66	0.02721	N	0.067	0.09207	-1.0113	0.26510	T	0.003	0.01092	T	10	0.02681753	0.00840	T	0.003798	0.08868	T	0.070	0.20419	0.531	0.63855	0.213573922156	0.20996	0.5620348333910018	0.56130	0.286730773741	0.31065	0.229831933975	0.01956	T	0.061533	0.31678	T	-0.386634	0.02827	T	-0.607246	0.12209	T	0.0156626775697976	0.00360	T	0.549145	0.18957	T	0.040259983	0.05713	0.032992814	0.02123	0.040259983	0.05712	0.032992814	0.02122	-4.333	0.34380	T	.	.	0.071	0.04002	B	.;.;.;.	.;.;.;.	-0.397236	0.02224	0.224	0.66929688642376417	0.08203	0.00769	0.03173	N	AEFDBI	0.036655	0.04919	N	-2.19794420422255	0.00078	0.003322106	-2.22740322021938	0.00097	0.004263312	0.999999999926525	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.05	-10.1	0.00330	-1.107000	0.03427	-1.482000	0.05340	-2.648000	0.00223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2752:0.0:0.4766:0.2481	7.772	0.28180	513	0.74941	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	34	chr1	154429403	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=722;ExcessHet=0;FS=4.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.185;SOR=0.374	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chr1	154436084	154436084	C	T	exonic	IL6R	.	nonsynonymous SNV	IL6R:NM_001382774:exon5:c.C563T:p.P188L,IL6R:NM_000565:exon6:c.C923T:p.P308L,IL6R:NM_001206866:exon6:c.C923T:p.P308L,IL6R:NM_001382769:exon6:c.C923T:p.P308L,IL6R:NM_001382770:exon6:c.C923T:p.P308L,IL6R:NM_001382771:exon6:c.C923T:p.P308L,IL6R:NM_001382772:exon6:c.C917T:p.P306L,IL6R:NM_001382773:exon6:c.C923T:p.P308L,IL6R:NM_181359:exon6:c.C923T:p.P308L	.	.	.	.	.	.	.	.	.	.	.	1022634	Hyper-IgE_recurrent_infection_syndrome_5,_autosomal_recessive|not_provided	MONDO:MONDO:0030069,MedGen:C5394550,OMIM:618944|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0114393467974	0.0008	.	0.0005	0.0004	0	0	0.0023	0.0005	0.0036	0.0001	0.0005304	82	154602	rs148682883	0.0009	0.0009	0.0010	0.0008	0.0010	0.0009	0.0008	0.0010	0.0010	0.0002	0.0002	0.0009	0	0.0016	0.0002	0.0010	0.0005	0.0001	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0003	0	6.545e-05	0.0003	0	0.0022	0	0.0012	0.0014	0.0004	0.135	0.31383	T	0.111	0.38016	T	0.956	0.57829	P	0.072	0.36881	B	0.275819	0.03801	N	1.452300	1	0.08975	N	2.545	0.74286	M	2.29	0.20523	T	-3.12	0.63782	D	0.245	0.27673	-0.9636	0.38488	T	0.047	0.20195	T	10	0.020596057	0.00477	T	0.011439	0.29067	T	0.109	0.30843	.	.	0.448891444097	0.44514	0.4743092951755962	0.47349	0.357179526398	0.37446	0.21482437849	0.01032	T	0.321055	0.69219	T	-0.534168	0.00363	T	-0.539118	0.18382	T	0.0699769132986473	0.08647	T	0.847115	0.52772	T	0.073226474	0.16348	0.09085925	0.21331	0.073226474	0.16348	0.09085925	0.21330	-5.292	0.39864	T	.	.	0.104	0.18950	B	.;.;.	.;.;.	1.008725	0.13873	10.43	0.77462859537269624	0.11887	0.01704	0.05416	N	AEFDBI	0.087481	0.17737	N	-0.783289222118454	0.13745	0.6793923	-0.989377809278295	0.10023	0.5022306	0.999999443619985	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.29	-5.12	0.02674	-0.847000	0.04439	-0.293000	0.10176	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3825:0.5347:0.0828:0.0	11.055	0.47127	502	0.75873	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1456.33	35	chr1	154436084	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.925;SOR=0.729	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr1	154869476	154869476	G	T	exonic	KCNN3	.	nonsynonymous SNV	KCNN3:NM_001204087:exon1:c.C489A:p.H163Q,KCNN3:NM_002249:exon1:c.C489A:p.H163Q	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0496590137718	.	.	4.141e-05	0	0	0	0	4.521e-05	0.0011	6.06e-05	3.23e-05	5	154602	rs750750797	2.189e-05	2.189e-05	1.361e-05	3.025e-05	0.0002	1.584e-05	1.356e-05	8.886e-05	7.054e-05	0	0	0	0	0.0001	0	9.892e-06	1.656e-05	0.0002	3.283e-05	3.281e-05	2.57e-05	4.027e-05	1.47e-05	1.26e-05	7.97e-06	.	.	0	0	0	0	0	0.0003	0	1.47e-05	0.0005	0	0.003	0.68238	D	0.439	0.13365	T	.	.	.	.	.	.	0.314786	0.14371	N	0.624103	0.982418	0.39889	D	.	.	.	-3.64	0.95145	D	-0.98	0.25986	N	0.141	0.20395	-0.3737	0.72848	T	0.487	0.80466	T	10	0.12567064	0.23883	T	0.049659	0.63906	D	0.187	0.46274	.	.	0.498981075579	0.49534	0.5963580764211439	0.59565	1.92661065123	0.93051	0.61751884222	0.55378	T	0.250696	0.62084	T	-0.0450244	0.45201	T	-0.120923	0.61727	T	0.144966250541967	0.16695	T	0.851115	0.53499	D	0.18693158	0.40124	0.19365013	0.42945	0.18693158	0.40124	0.19365013	0.42944	-3.398	0.15030	T	.	.	0.212	0.43989	B	.;.	.;.	3.146510	0.42582	21.6	0.99102444819024627	0.52496	0.92564	0.56008	D	ALL	0.771885	0.70638	D	-0.138636565023946	0.35721	2.055308	0.0831731811163268	0.43703	2.66659	0.999999999745767	0.74766	0.652421	0.48094	0	0.405561	0.06353	1	0.64067	0.45733	0	0.055017	0.00153	3	.	.	5.02	5.02	0.66742	3.245000	0.51106	7.563000	0.60525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1804:0.8196:0.0	11.537	0.49898	354	0.85282	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1334.33	37	chr1	154869476	.	G	T	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.622;DP=852;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.812;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr1	154869854	154869854	-	TGC	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.110_111insGCA:p.Q41_P42insQ,KCNN3:NM_002249:exon1:c.110_111insGCA:p.Q41_P42insQ	.	.	.	.	.	.	.	.	.	.	.	2805989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	.	0.0032	0.0059	0.0027	0.0005	0.0053	0.0027	0	0.0043	0.0001153	3	26028	rs754856463	0.0014	0.0014	0.0014	0.0014	0.0038	0.0013	0.0013	0.0033	0.0031	0.0038	0.0014	7.822e-05	0.0014	0.0021	0.0033	0.0012	0.0015	0.0020	0.0020	0.0020	0.0022	0.0018	0.0039	0.0019	0.0018	0.0034	0.0032	0.0039	0	0.0013	0.0003	0.0006	0.0018	0	0.0014	0.0039	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	572.29	39	chr1	154869854	.	T	TTGC	572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.29;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=-1.245;SOR=0.678	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr1	154961615	154961615	G	A	exonic	LOC101928120	.	startloss	LOC101928120:NM_001321726:exon1:c.G3A:p.M1?	.	428	1093	0	1	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	.	0	.	.	0.0008837	23	26028	rs770332564	0.0011	0.0007	0.0011	0.0012	0.0010	0.0011	0.0010	0.0004	0.0003	0	0.0008	0.0283	0	0	0.0010	0.0003	0.0027	0.0002	0.0012	0.0012	0.0012	0.0011	0.0009	0.0010	0.0010	0.0006	0.0004	9.62e-05	0	0.0009	0.0389	0	0	0	0.0003	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	669.33	34	chr1	154961615	.	G	A	669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.509;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.078;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr1	155014887	155014887	G	T	exonic	ZBTB7B	.	nonsynonymous SNV	ZBTB7B:NM_001256455:exon2:c.G227T:p.G76V,ZBTB7B:NM_001377453:exon3:c.G227T:p.G76V,ZBTB7B:NM_001377455:exon3:c.G227T:p.G76V,ZBTB7B:NM_001252406:exon4:c.G329T:p.G110V,ZBTB7B:NM_001377452:exon4:c.G227T:p.G76V,ZBTB7B:NM_001377454:exon4:c.G227T:p.G76V,ZBTB7B:NM_001377451:exon5:c.G329T:p.G110V	.	359	1160	3	0	0	3	0.00129143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0011	0.00139776	0.0008	0.0003	0.0010	0.0001	0	0.0013	0.0022	6.058e-05	0.0008797	136	154602	rs145349387	0.0012	0.0012	0.0012	0.0013	0.0029	0.0012	0.0012	0.0019	0.0015	0.0002	0.0015	0.0002	2.519e-05	1.875e-05	0.0029	0.0015	0.0014	0.0001	0.0013	0.0013	0.0014	0.0012	0.0053	0.0011	0.0011	0.0044	0.0040	0.0005	0	0.0053	0	0	0	0	0.0014	0.0024	0	0.102	0.63226	T	0.512	0.24987	T	0.998	0.73220	D	0.966	0.71341	D	0.777684	0.09496	N	0.847359	1	0.81001	D	1.285	0.32305	L	2.96	0.10008	T	-0.12	0.08809	N	0.21	0.34228	-1.0147	0.25432	T	0.025	0.10866	T	10	0.0059859753	0.00134	T	.	.	.	0.168	0.42943	.	.	0.34333109794	0.33943	0.3902978738101172	0.38944	0.92107368412	0.71454	0.664211511612	0.62011	T	0.211599	0.57241	T	-0.421074	0.01683	T	-0.412999	0.31879	T	0.0325374368548874	0.02394	T	0.676632	0.28519	T	0.053472083	0.10124	0.06315496	0.12468	0.053472083	0.10124	0.06315496	0.12468	-5.674	0.43461	T	.	.	0.214	0.45261	B	.;.;.;.	.;.;.;.	1.596427	0.20413	14.74	0.95361469939205612	0.26761	0.93361	0.58011	D	AEFDGBCI	0.563347	0.57057	D	0.141003104650281	0.48385	3.051558	0.0716841575549032	0.43131	2.621314	0.99999999794091	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.66	3.66	0.41111	2.716000	0.46888	6.244000	0.55301	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.717	0.45215	331	0.86429	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1535.33	33	chr1	155014887	.	G	T	1535.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=738;ExcessHet=0;FS=10.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=1.77;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	18	0	1	0
chr1	155015253	155015253	C	T	exonic	ZBTB7B	.	nonsynonymous SNV	ZBTB7B:NM_001256455:exon2:c.C593T:p.A198V,ZBTB7B:NM_001377453:exon3:c.C593T:p.A198V,ZBTB7B:NM_001377455:exon3:c.C593T:p.A198V,ZBTB7B:NM_001252406:exon4:c.C695T:p.A232V,ZBTB7B:NM_001377452:exon4:c.C593T:p.A198V,ZBTB7B:NM_001377454:exon4:c.C593T:p.A198V,ZBTB7B:NM_001377451:exon5:c.C695T:p.A232V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0163303372047	7.7e-05	0.000199681	0.0005	0.0001	0.0018	0	0	0.0002	0.0023	0.0013	0.0003946	61	154602	rs148039526	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	5.974e-05	0.0013	3.829e-05	0	0	0.0009	5.036e-05	0.0003	0.0016	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.697e-05	0.0018	0.0014	2.406e-05	0	0.0001	0	0	0	0.0034	8.822e-05	0.0005	0.0029	0.242	0.24564	T	0.278	0.26145	T	0.067	0.23653	B	0.023	0.19966	B	0.598830	0.05634	N	1.250020	0.657605	0.30478	N	0.55	0.14455	N	2.94	0.09915	T	-0.75	0.21429	N	0.181	0.25253	-0.9676	0.37693	T	0.007	0.02478	T	10	0.010650545	0.00236	T	0.01633	0.37534	T	0.057	0.16321	.	.	0.182106788282	0.17826	0.2241321514737775	0.22328	0.642444202112	0.57808	0.823675751686	0.85592	D	0.120	0.44141	T	-0.58315	0.00184	T	-0.635059	0.10034	T	0.0176638318141449	0.00498	T	0.754725	0.41328	T	0.045267023	0.07378	0.05614892	0.09982	0.045267023	0.07378	0.05614892	0.09981	-4.277	0.29907	T	.	.	0.232	0.46470	B	.;.;.;.	.;.;.;.	2.713355	0.35474	19.91	0.98851777573027755	0.47305	0.40377	0.26423	N	AEFGBCI	0.309836	0.41602	N	-0.614600182950933	0.18505	0.961278	-0.50089307615298	0.22130	1.200457	0.999977840997946	0.50053	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.09	3.17	0.35510	1.684000	0.37266	4.569000	0.43873	0.596000	0.33519	0.042000	0.21073	1.000000	0.68203	0.995000	0.73285	0.0:0.8924:0.0:0.1076	9.398	0.37578	328	0.86572	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	51	chr1	155015253	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-2.306;SOR=0.649	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr1	155030158	155030158	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon7:c.C1103T:p.A368V	.	407	1099	16	0	0	16	0.00722674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00647266852047	0.0007	0.00179712	0.0016	0.0003	0.0018	0	0	0.0012	0.0033	0.0053	0.0014424	223	154602	rs138589439	0.0011	0.0011	0.0009	0.0012	0.0061	0.0010	0.0010	0.0048	0.0047	8.961e-05	0.0015	0.0001	2.519e-05	9.36e-05	0.0061	0.0008	0.0014	0.0052	0.0009	0.0009	0.0010	0.0009	0.0060	0.0008	0.0008	0.0043	0.0037	0.0001	0	0.0024	0	0.0002	9.414e-05	0.0068	0.0009	0.0014	0.0060	0.349	0.12345	T	0.42	0.14116	T	0.288	0.32258	B	0.241	0.38645	B	0.445358	0.12575	N	0.732373	1	0.08975	N	2.47	0.71715	M	1.44	0.32722	T	-1.23	0.31170	N	0.585	0.60579	-1.0305	0.20292	T	0.041	0.17488	T	10	0.006998539	0.00159	T	0.006473	0.17043	T	0.033	0.08068	.	.	0.314716216878	0.31082	0.1180707425201318	0.11734	0.0930818480898	0.10513	0.492610812187	0.37801	T	0.038065	0.24707	T	-0.487804	0.00668	T	-0.472245	0.25274	T	0.0204414593917916	0.00744	T	0.640436	0.25296	T	0.05572035	0.10867	0.09836587	0.23449	0.05572035	0.10866	0.09836587	0.23448	-3.62	0.18147	T	.	.	0.127	0.26855	B	.	.	1.979690	0.25148	16.66	0.98493703486738426	0.42132	0.48899	0.28311	N	AEFGBI	0.209923	0.33587	N	-0.249908420801866	0.31107	1.740991	-0.247199317575445	0.29868	1.676911	0.0119462624476166	0.12258	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.83	0.32150	2.437000	0.44487	2.463000	0.32863	0.676000	0.76740	0.842000	0.30316	0.832000	0.27222	0.399000	0.26759	0.0:0.0:0.6731:0.3269	11.329	0.48702	258	0.89879	Dendritic cell-specific transmembrane protein-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1497.33	33	chr1	155030158	.	G	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.568;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-0.038;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	18	0	1	0
chr1	155031706	155031706	C	T	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon4:c.G607A:p.G203S	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0008	0.00359425	0.0024	0	0.0006	0	0.0002	0.0006	0.0022	0.0148	0.0021022	325	154602	rs143867546	0.0012	0.0012	0.0007	0.0016	0.0140	0.0011	0.0011	0.0134	0.0131	0.0001	0.0004	0.0014	0	0.0006	0.0040	0.0003	0.0015	0.0140	0.0006	0.0006	0.0004	0.0008	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0055	0.0002	0.0014	0	0.0004	0	0.0004	0.0005	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.746	0.55899	P	0.000002	0.62929	D	0.000000	0.877179	0.35677	D	2.455	0.71248	M	1.77	0.25841	T	-4.39	0.77225	D	0.609	0.62611	-1.0952	0.04723	T	0.039	0.16720	T	10	0.0073500276	0.00167	T	.	.	.	0.142	0.37995	.	.	0.396494342077	0.39262	0.6308940543916751	0.63023	0.247040294134	0.27239	0.543425798416	0.44929	T	0.353173	0.72051	T	-0.426254	0.01562	T	-0.373385	0.36493	T	0.0790607385132927	0.09866	T	0.780822	0.41560	T	0.67530733	0.76718	0.54595006	0.73753	0.67530733	0.76719	0.54595006	0.73754	-10.341	0.75928	D	.	.	0.355	0.56869	A	.	.	4.282848	0.65252	24.8	0.99858674468472719	0.93729	0.85127	0.44234	D	AEFBI	0.578397	0.57962	D	0.319765875406958	0.57162	3.882741	0.355873199408779	0.58862	4.059571	0.162697727887977	0.17617	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.67	4.76	0.60189	3.611000	0.53881	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9173:0.0:0.0827	11.784	0.51303	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	894.33	40	chr1	155031706	.	C	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.316;DP=736;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=1.02;SOR=0.466	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	155034676	155034676	C	T	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_152494:exon4:c.C211T:p.P71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.00994963657953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14894	T	0.295	0.23097	T	0.959	0.55135	D	0.556	0.49411	P	0.002220	0.37012	N	0.116386	0.793072	0.81001	D	2.395	0.69210	M	2.06	0.20959	T	-1.73	0.46146	N	0.692	0.70263	-1.0822	0.06927	T	0.048	0.20355	T	10	0.74830383	0.75449	D	0.00995	0.25901	T	0.213	0.50496	0.581	0.70733	0.397838977388	0.39401	0.24157665069327658	0.24071	0.405224868768	0.41417	0.595753490925	0.52305	T	0.032224	0.22391	T	-0.10672	0.35311	T	-0.391072	0.34425	T	0.978861808776855	0.72539	D	0.810019	0.46084	T	0.10708176	0.25320	0.11136674	0.26864	0.10708176	0.25320	0.11136674	0.26863	-5.856	0.45960	T	.	.	0.317	0.54294	B	.;.	.;.	4.317390	0.66045	24.9	0.99813922475788497	0.89708	0.78146	0.38512	D	AEFBHCI	0.534641	0.55360	D	0.336957077030078	0.58054	3.975628	0.360264638631763	0.59129	4.08818	0.996212300797078	0.34598	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	4.028000	0.56957	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	12.837	0.57164	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	42	chr1	155034676	.	C	T	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.134;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	155047262	155047262	T	C	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon13:c.T1487C:p.I496T,DCST1:NM_152494:exon14:c.T1562C:p.I521T	.	.	.	.	.	.	.	.	.	.	.	3963751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0148609064194	0.0002	.	0.0002	0.0003	8.637e-05	0.0001	0	0.0002	0	0.0008	0.000194	30	154602	rs139043706	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	2.236e-05	0	2.519e-05	0	0	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	6.54e-05	0	0	0	0	0.0002	0	0.0004	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.163604	0.17586	N	0.577931	0.993821	0.42066	D	2.71	0.79292	M	1.48	0.31731	T	-3.43	0.67359	D	0.84	0.84298	-1.0398	0.17374	T	0.110	0.39675	T	10	0.62956953	0.68438	D	0.014861	0.35248	T	0.301	0.62179	.	.	0.421184727016	0.41734	0.5793418839155227	0.57863	0.62569123341	0.56737	0.548558115959	0.45654	T	0.204421	0.56319	T	-0.187483	0.22628	T	-0.157651	0.58563	T	0.267059415578842	0.23621	T	0.862414	0.56597	D	0.69458497	0.77761	0.62313217	0.78039	0.69458497	0.77762	0.62313217	0.78040	-6.783	0.54890	T	.	.	0.177	0.52169	B	.;.;.	.;.;.	4.534323	0.71214	25.6	0.99852506505342253	0.93191	0.96408	0.68991	D	AEFBI	0.725310	0.67434	D	0.631640971760997	0.75186	6.261599	0.601545904432899	0.75052	6.242783	0.999998850457837	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.88	4.88	0.63131	5.199000	0.64988	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.054	0.47127	226	0.91233	Dendritic cell-specific transmembrane protein-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	835.33	45	chr1	155047262	.	T	C	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=802;ExcessHet=0;FS=1.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.005;SOR=0.957	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr1	155058123	155058123	C	A	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon14:c.C1719A:p.N573K,ADAM15:NM_001261465:exon14:c.C1689A:p.N563K,ADAM15:NM_001261466:exon14:c.C1641A:p.N547K,ADAM15:NM_003815:exon14:c.C1689A:p.N563K,ADAM15:NM_207191:exon14:c.C1689A:p.N563K,ADAM15:NM_207194:exon14:c.C1689A:p.N563K,ADAM15:NM_207195:exon14:c.C1689A:p.N563K,ADAM15:NM_207196:exon14:c.C1689A:p.N563K,ADAM15:NM_207197:exon14:c.C1689A:p.N563K	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.012119429403	0.0014	.	0.0012	0.0004	8.642e-05	0	0.0002	0.0018	0	0.0010	0.0013842	214	154602	rs149853516	0.0018	0.0018	0.0018	0.0018	0.0022	0.0018	0.0017	0.0021	0.0021	0.0003	0.0002	3.828e-05	0	0.0005	0.0007	0.0022	0.0012	0.0008	0.0011	0.0011	0.0012	0.0010	0.0021	0.0010	0.0009	0.0018	0.0017	0.0002	0	0.0003	0	0	0.0006	0	0.0021	0.0019	0.0006	0.039	0.45393	D	0.484	0.36901	T	0.087	0.27581	B	0.155	0.36707	B	0.561789	0.11328	N	0.778199	1	0.08975	N	0.975	0.24501	L	2.06	0.20523	T	-1.85	0.43334	N	0.054	0.12627	-0.9795	0.35117	T	0.021	0.08686	T	10	0.010956824	0.00242	T	0.012119	0.30406	T	0.066	0.19193	0.522	0.62518	0.330069100803	0.32608	0.5733032990743965	0.57259	0.364378373886	0.38050	0.392782390118	0.24061	T	0.136642	0.46913	T	-0.65741	0.00065	T	-0.713375	0.05123	T	0.00795038108975781	0.00094	T	0.632437	0.28920	T	0.07077431	0.15617	0.07908574	0.17772	0.07077431	0.15617	0.07908574	0.17772	-7.397	0.58813	T	.	.	0.123	0.37005	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.327566	0.07015	3.576	0.97528997701562681	0.34448	0.35771	0.25379	N	AEFDGBHCI	0.305258	0.41273	N	-0.549114686263964	0.20512	1.081819	-0.519913467708457	0.21613	1.17002	0.999999842775695	0.74766	0.743674	0.98306	0	0.69481	0.67340	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.39	3.46	0.38718	0.384000	0.20396	-1.376000	0.05585	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.7114:0.193:0.0956	6.726	0.22543	213	0.91726	ADAM, cysteine-rich|ADAM, cysteine-rich;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3558.33	40	chr1	155058123	.	C	A	3558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.727;DP=1077;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.149;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr1	155186148	155186148	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001044391:exon5:c.C440G:p.S147C,MUC1:NM_001044392:exon5:c.C467G:p.S156C,MUC1:NM_001204297:exon5:c.C521G:p.S174C,MUC1:NM_001204295:exon6:c.C557G:p.S186C,MUC1:NM_001044390:exon7:c.C599G:p.S200C,MUC1:NM_001204289:exon7:c.C704G:p.S235C,MUC1:NM_001204290:exon7:c.C641G:p.S214C,MUC1:NM_001204291:exon7:c.C713G:p.S238C,MUC1:NM_001204292:exon7:c.C707G:p.S236C,MUC1:NM_001204294:exon7:c.C680G:p.S227C,MUC1:NM_001204296:exon7:c.C626G:p.S209C,MUC1:NM_001018016:exon8:c.C782G:p.S261C,MUC1:NM_001018017:exon8:c.C755G:p.S252C,MUC1:NM_001204287:exon8:c.C836G:p.S279C,MUC1:NM_002456:exon8:c.C809G:p.S270C,MUC1:NM_001204285:exon9:c.C1415G:p.S472C,MUC1:NM_001204286:exon9:c.C1442G:p.S481C,MUC1:NM_001371720:exon12:c.C3680G:p.S1227C	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2386513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0730881798815	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs780727289	1.271e-05	1.231e-05	1.536e-05	9.997e-06	0.0002	7.94e-06	6.55e-06	5.88e-06	4.65e-06	0	2.535e-05	0	0	0	0.0002	1.103e-05	3.414e-05	2.469e-05	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	0.876392	0.81001	D	.	.	.	0.97	0.57419	T	-3.96	0.73684	D	0.439	0.53093	-0.4849	0.69191	T	0.277	0.64926	T	9	0.35168758	0.52013	T	0.073088	0.71700	D	0.228	0.52768	0.211	0.12923	0.7807895422	0.77876	0.4793372651105636	0.47853	.	.	0.503526747227	0.39319	T	0.148327	0.50960	T	0.106017	0.64935	D	-0.0218442	0.68907	D	0.973334670066833	0.70054	D	0.881912	0.60169	D	.	.	.	.	.	.	.	.	-13.405	0.94421	D	.	.	0.573	0.69509	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.086688	0.84923	28.4	0.98306374834759047	0.40097	0.78837	0.38958	D	ALL	0.841534	0.75872	D	0.7222473405488	0.81089	7.441647	0.666377095280683	0.79837	7.167169	0.99999999300489	0.74766	0.386957	0.05904	2	0.624146	0.53433	0	0.137785	0.03908	3	0.604944	0.38103	0	.	.	4.57	4.57	0.55860	4.825000	0.62398	9.676000	0.81232	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.040	0.58303	71	0.96981	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1084.33	33	chr1	155186148	.	G	C	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.8;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-1.134;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr1	155188222	155188222	A	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001018016:exon3:c.T196A:p.S66T,MUC1:NM_001018017:exon3:c.T169A:p.S57T,MUC1:NM_001044391:exon3:c.T169A:p.S57T,MUC1:NM_001044392:exon3:c.T196A:p.S66T,MUC1:NM_001204287:exon3:c.T250A:p.S84T,MUC1:NM_001204288:exon3:c.T196A:p.S66T,MUC1:NM_001204293:exon3:c.T223A:p.S75T,MUC1:NM_001204295:exon3:c.T196A:p.S66T,MUC1:NM_001204297:exon3:c.T250A:p.S84T,MUC1:NM_002456:exon3:c.T223A:p.S75T,MUC1:NM_001204285:exon4:c.T829A:p.S277T,MUC1:NM_001204286:exon4:c.T856A:p.S286T,MUC1:NM_001371720:exon7:c.T3094A:p.S1032T	Medullary cystic kidney disease 1, Autosomal dominant	419	1079	24	0	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0373890437637	7.7e-05	0.000199681	0.0006	0.0002	0.0003	0	0.0002	0.0008	0.0011	0.0007	0.000608	94	154602	rs35819649	0.0008	0.0008	0.0008	0.0008	0.0345	0.0007	0.0007	0.0306	0.0291	0.0013	0.0004	0.0004	0	0	0.0345	0.0006	0.0015	0.0008	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0010	0.0009	0	0.0003	0.0102	0.0006	0.0033	0	0.068	0.91255	T	0.052	0.92824	T	0.241	0.61523	B	0.109	0.73157	B	0.002579	0.36316	N	0.000000	1	0.81001	D	.	.	.	1.34	0.34841	T	-1.63	0.48523	N	0.307	0.58373	-1.0223	0.22965	T	0.126	0.43236	T	10	0.04964006	0.04581	T	0.037389	0.57584	D	0.158	0.41098	.	.	0.584703298469	0.58143	0.22163038141386274	0.22078	.	.	0.428813040257	0.29046	T	0.092718	0.39062	T	-0.383514	0.02960	T	-0.374109	0.36410	T	0.0245896355717764	0.01220	T	0.872913	0.59716	D	.	.	.	.	.	.	.	.	-7.908	0.66244	D	.	.	0.316	0.55096	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.854539	0.55855	23.7	0.98859798611533278	0.47442	0.61130	0.31395	D	AEFDBHCI	0.264529	0.38185	N	0.280769604676223	0.55173	3.681704	0.182546670705446	0.48890	3.099098	0.999994268478084	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.5	3.34	0.37357	1.241000	0.32346	5.720000	0.49467	0.691000	0.84096	0.987000	0.36337	1.000000	0.68203	0.561000	0.30436	0.8909:0.0:0.1091:0.0	7.132	0.24682	71	0.96981	SEA domain|SEA domain|SEA domain;.;SEA domain|SEA domain|SEA domain;SEA domain|SEA domain;SEA domain|SEA domain|SEA domain;SEA domain|SEA domain|SEA domain;.;.;SEA domain|SEA domain|SEA domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.024194	0.000000	0.020380	0.076023	0.000000	0.034483	0.006135	0.003788	0.02632	1944.33	33	chr1	155188222	.	A	T	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.517;DP=817;ExcessHet=0;FS=1.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.399;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1166	18	0	1	0
chr1	155190105	155190105	C	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001371720:exon6:c.G1516A:p.G506S	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs762050210	0	3.423e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	81.33	34	chr1	155190105	.	C	T	81.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.551;DP=944;ExcessHet=0;FS=2.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.77;MQRankSum=1.73;QD=1.07;ReadPosRankSum=-1.615;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,118,1800:.	18	0	1	0
chr1	155190203	155190203	G	C	splicing	MUC1	NM_001371720:exon6:c.1419-1C>G	.	.	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769934858	0.0005	0.0005	0.0004	0.0005	0.0035	0.0004	0.0004	0.0023	0.0019	0.0010	0.0032	0.0024	0.0035	0.0058	0	0.0004	0.0010	8.834e-05	0.0097	0.0069	0.0083	0.0115	0.0165	0.0085	0.0080	0.0089	0.0075	0.0112	0	0.0133	0.0115	0.0050	0.0085	0	0.0087	0.0090	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	209.64	17	chr1	155190203	.	G	C	209.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0839;MLEAC=2;MLEAF=0.143;MQ=46.19;MQRankSum=-1.45;QD=14.97;ReadPosRankSum=-2.067;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,178:.	6	0	1	12
chr1	155247852	155247852	C	T	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon9:c.G1649A:p.R550H,FAM189B:NM_001267608:exon11:c.G1883A:p.R628H,FAM189B:NM_006589:exon12:c.G1937A:p.R646H	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0002	0.00958466	0.0168	0	0.0020	0.0976	0.1083	0.0036	0.0408	0.0027	0.0038939	602	154602	rs2072648	0.0034	0.0034	0.0035	0.0034	0.0681	0.0034	0.0033	0.0658	0.0649	0	0.0002	0	0.0681	0.0319	0	0.0003	0.0030	0.0018	0.0045	0.0045	0.0027	0.0063	0.0441	0.0042	0.0041	0.0394	0.0376	9.62e-05	0	0.0003	0	0.0441	0.0350	0	0.0007	0.0028	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000090	0.51296	D	0.000000	0.60774	0.30887	N	0.46	0.12951	N	3.89	0.03544	T	-0.6	0.22294	N	0.192	0.21056	-0.9662	0.37974	T	0.013	0.04890	T	10	0.0025410056	0.00038	T	.	.	.	0.183	0.45592	.	.	0.490352026379	0.48669	0.23767095121189646	0.23681	0.491203572652	0.47817	0.530864298344	0.43156	T	0.006491	0.05922	T	-0.492104	0.00633	T	-0.407583	0.32504	T	0.0761791280700723	0.09492	T	.	.	.	0.28279686	0.51315	0.2224794	0.47094	0.28279686	0.51315	0.2224794	0.47093	-4.786	0.34428	T	.	.	0.124	0.34316	B	.;.;.	.;.;.	3.858666	0.55945	23.7	0.99950056111878038	0.99938	0.95904	0.66656	D	AEFDBI	0.340160	0.43707	N	0.446140609408612	0.63985	4.643146	0.449401511807709	0.64677	4.728613	0.999877987710601	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.654000	0.46363	7.529000	0.59886	0.598000	0.34611	0.731000	0.28933	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	15.164	0.72489	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005097	0.000000	0.005495	0.000000	0.050000	0.000000	0.006211	0.015152	0.02632	1044.33	37	chr1	155247852	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=0.121;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1143	18	0	1	0
chr1	155282579	155282579	C	-	exonic	HCN3	.	frameshift deletion	HCN3:NM_020897:exon2:c.447delC:p.I149Mfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3478.29	33	chr1	155282578	.	TC	T	3478.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.698;DP=872;ExcessHet=0;FS=0.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.723;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	18	0	1	0
chr1	155284689	155284689	A	G	exonic	HCN3	.	nonsynonymous SNV	HCN3:NM_020897:exon4:c.A1021G:p.M341V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.106657338548	.	0.000399361	0.0005	0	0	0	0	3.003e-05	0	0.0038	0.0004398	68	154602	rs575123350	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	0	0	0	0	0	0	8.993e-07	0.0003	0.0041	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.275	0.15770	T	0.129	0.34837	T	0.008	0.14655	B	0.086	0.29521	B	0.000006	0.62929	D	0.000000	0.999983	0.54805	D	0.63	0.15941	N	-5.0	0.98525	D	-3.41	0.67129	D	0.885	0.88356	0.611	0.92038	D	0.822	0.94019	D	10	0.057993174	0.06748	T	0.106657	0.78237	D	0.783	0.92787	0.599	0.72984	0.902372286892	0.90139	0.6721676486837246	0.67154	0.553496307488	0.52122	0.793290793896	0.80944	T	0.668157	0.90119	D	0.051981	0.58599	T	0.300101	0.88203	D	0.217804791137421	0.21354	T	.	.	.	0.36391708	0.58132	0.38416696	0.63364	0.36391708	0.58133	0.38416696	0.63364	-9.632	0.71678	D	.	.	0.211	0.43869	B	.	.	3.995292	0.58836	24.0	0.98083969652646363	0.38133	0.98163	0.80146	D	AEFGBI	0.899489	0.84394	D	0.0891334070085262	0.45956	2.843656	0.269443191270534	0.53761	3.543742	0.999999889297771	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	9.322000	0.95579	7.113000	0.57572	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	13.280	0.59642	43	0.97828	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1211.33	34	chr1	155284689	.	A	G	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.285;DP=709;ExcessHet=0;FS=12.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.101;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1194	18	0	1	0
chr1	155347891	155347891	C	T	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon20:c.G7583A:p.R2528H,ASH1L:NM_018489:exon20:c.G7568A:p.R2523H	.	9	1507	5	1	0	7	0.00231711	.	.	.	1686960	not_provided|ASH1L-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.200	0.0158122193675	0.0017	0.000798722	0.0020	0.0002	0.0015	0	0	0.0033	0.0011	0.0004	0.0019017	294	154602	rs41264231	0.0014	0.0014	0.0013	0.0015	0.0078	0.0014	0.0013	0.0060	0.0054	0.0003	0.0016	0.0305	5.038e-05	3.744e-05	0.0078	0.0008	0.0029	0.0004	0.0016	0.0016	0.0017	0.0016	0.0018	0.0014	0.0014	0.0013	0.0011	0.0003	0	0.0018	0.0401	0	0	0.0034	0.0009	0.0019	0	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.99952	0.51308	D	1.57	0.39626	L	2.17	0.19020	T	-3.43	0.67359	D	0.666	0.67477	-1.1031	0.03736	T	0.089	0.34271	T	10	0.009892166	0.00222	T	0.015812	0.36746	T	0.200	0.48430	.	.	0.553752920557	0.55033	0.37046118065192796	0.36960	1.97671408599	0.93605	0.573575615883	0.49182	T	0.155556	0.49735	T	-0.26758	0.12027	T	-0.176151	0.56878	T	0.107340099065022	0.13146	T	0.963704	0.86510	D	0.6572635	0.75752	0.656672	0.79896	0.7133097	0.78791	0.59317094	0.76388	-10.441	0.76583	D	.	.	0.619	0.69661	P	.;.	.;.	5.394637	0.90360	31	0.99949085075853017	0.99931	0.98381	0.82198	D	AEFDBI	0.660437	0.63101	D	0.72980405299496	0.81586	7.557113	0.732997351590774	0.84882	8.41793	0.999999989666202	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.478000	0.66531	7.642000	0.63248	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.948	0.92605	44	0.97806	Bromodomain|Bromodomain|Bromodomain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1915.33	33	chr1	155347891	.	C	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=765;ExcessHet=0;FS=7.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.363;SOR=1.419	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	18	0	1	0
chr1	155478043	155478043	A	C	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.T4827G:p.S1609R,ASH1L:NM_018489:exon3:c.T4827G:p.S1609R	.	8	1506	8	0	0	8	0.00264901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0893748216968	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763693444	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.02	0.58613	D	0.995	0.70673	D	0.795	0.63802	P	0.000015	0.62929	D	0.121556	0.985098	0.40235	D	0.55	0.14455	N	-2.63	0.90083	D	-1.22	0.30964	N	0.745	0.74462	0.500	0.90542	D	0.645	0.87602	D	10	0.49624738	0.61283	T	0.089375	0.75316	D	0.460	0.75755	0.184	0.09259	0.940097724671	0.93947	0.6769130232204704	0.67630	0.837879280182	0.67888	0.755218982697	0.75219	T	0.030979	0.21832	T	0.189428	0.72912	D	0.215852	0.83966	D	0.614594195249311	0.36986	D	0.89531	0.63576	D	0.5856982	0.71918	0.6192398	0.77825	0.5856982	0.71919	0.6192398	0.77826	-4.499	0.31356	T	.	.	0.988	0.93093	P	.;.	.;.	4.286558	0.65338	24.8	0.99824538956006681	0.90677	0.94109	0.60139	D	AEFBCI	0.667932	0.63588	D	0.543783098921376	0.69705	5.394989	0.597048953758448	0.74726	6.186561	0.999983761723426	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.596000	0.73995	7.116000	0.57581	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.325	0.73860	51	0.97631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1454.33	82	chr1	155478043	.	A	C	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=824;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.39;SOR=0.573	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K,GON4L:NM_001282858:exon30:c.G6310A:p.E2104K,GON4L:NM_001282860:exon30:c.G6313A:p.E2105K	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012500	0.000000	0.009563	0.000000	0.000000	0.008772	0.015267	0.037815	0.05263	3437.83	40	chr1	155752120	.	C	T	3437.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.04;DP=910;ExcessHet=0.119;FS=4.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.97;MQRankSum=0.517;QD=15.35;ReadPosRankSum=2.24;SOR=1.027	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr1	155853608	155853608	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon2:c.G173A:p.G58D,GON4L:NM_001282858:exon2:c.G173A:p.G58D,GON4L:NM_001282860:exon2:c.G173A:p.G58D,GON4L:NM_001282861:exon2:c.G173A:p.G58D,GON4L:NM_032292:exon2:c.G173A:p.G58D	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00478751654215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.18122	T	0.464	0.12456	T	0.001	0.12183	B	0.002	0.14941	B	0.848260	0.08982	N	0.915558	1	0.08975	N	0.95	0.23787	L	2.6	0.15492	T	-1.31	0.32991	N	0.166	0.21969	-0.9036	0.47606	T	0.008	0.02638	T	10	0.051503688	0.05041	T	0.004788	0.11973	T	0.008	0.00669	0.214	0.13354	0.263709349026	0.25991	0.09680749413085396	0.09612	0.45656381799	0.45305	0.298430919647	0.10168	T	0.094696	0.39469	T	-0.284329	0.10214	T	-0.646195	0.09223	T	0.0335327024632267	0.02559	T	0.681032	0.28992	T	0.028782934	0.02270	0.055005014	0.09568	0.028782934	0.02270	0.055005014	0.09568	-2.897	0.09113	T	.	.	0.111	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.463978	0.08339	5.087	0.35070218057016911	0.02180	0.03836	0.09183	N	AEFBI	0.026641	0.02036	N	-1.26026611827526	0.04166	0.1874943	-1.27675584353955	0.04746	0.2246016	0.984069794715907	0.30658	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.04	0.041	0.13528	0.184000	0.16748	-0.121000	0.11721	-0.182000	0.10109	0.000000	0.06391	0.045000	0.21693	0.489000	0.28769	0.0:0.5499:0.0:0.4501	6.322	0.20428	77	0.96778	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2344.33	46	chr1	155853608	.	C	T	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.855;DP=1004;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.747;SOR=0.707	GT:AD:DP:GQ:PL	0/1:128,94:222:99:2358,0,3389	18	0	1	0
chr1	155900413	155900413	C	T	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256820:exon5:c.G527A:p.R176Q,RIT1:NM_001256821:exon6:c.G686A:p.R229Q,RIT1:NM_006912:exon6:c.G635A:p.R212Q	Noonan syndrome 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1325132	Noonan_syndrome_and_Noonan-related_syndrome|Cardiovascular_phenotype|Noonan_syndrome_8	MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00967116136273	.	.	5.767e-05	9.612e-05	0	0	0	1.499e-05	0	0.0003	4.53e-05	7	154602	rs764347644	3.079e-05	3.215e-05	2.042e-05	4.126e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	5.975e-05	0.0002	0	5.038e-05	0	0	6.296e-06	1.656e-05	0.0003	5.916e-05	5.911e-05	7.711e-05	4.036e-05	0.0006	3.078e-05	2.211e-05	0.0002	9e-05	7.241e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.028	0.50676	D	0.108	0.42976	T	0.364	0.33988	B	0.011	0.15521	B	0.015085	0.28344	N	0.277746	0.991843	0.41489	D	0	0.06538	N	-0.18	0.65747	T	-0.86	0.25118	N	0.319	0.42149	-1.0254	0.21952	T	0.068	0.27777	T	10	0.092461884	0.16284	T	0.009671	0.25267	T	0.068	0.19811	.	.	0.528917257038	0.52539	0.5239727958171749	0.52321	0.897822466154	0.70527	0.570383906364	0.48731	T	0.201293	0.55913	T	-0.234553	0.16052	T	-0.282547	0.46544	T	0.0307686324350781	0.02110	T	0.832517	0.50110	T	0.16185741	0.36223	0.100557	0.24048	0.16185741	0.36223	0.100557	0.24047	-6.998	0.54019	T	.	.	0.107	0.21987	B	.;.;.	.;.;.	3.577114	0.50415	22.9	0.99882151246915141	0.95813	0.85623	0.44775	D	AEFDGBHCI	0.324589	0.42643	N	-0.029855942118132	0.40507	2.406731	0.167347021362149	0.48069	3.02787	0.999999969834434	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	3.483000	0.52958	4.812000	0.45049	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.359	0.90313	67	0.97183	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr1	155900413	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.31;DP=769;ExcessHet=0;FS=1.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.142;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1352	18	0	1	0
chr1	155910776	155910776	C	G	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256821:exon2:c.G37C:p.G13R	Noonan syndrome 8, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0017161436875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439934026	1.163e-05	1.163e-05	9.529e-06	1.375e-05	1.349e-05	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	1.159e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	-0.25	0.67011	T	0.14	0.05405	N	0.207	0.22998	-0.9570	0.39735	T	0.076	0.30460	T	6	0.09249446	0.16292	T	0.001716	0.02856	T	0.080	0.23350	0.257	0.19845	0.176862962021	0.17281	0.604675987802499	0.60398	0.928649804324	0.71733	0.448512613773	0.31740	T	.	.	.	-0.322159	0.06723	T	-0.603682	0.12503	T	0.0479024542595979	0.05126	T	0.484552	0.14745	T	.	.	.	.	.	.	.	.	-3.13	0.11644	T	.	.	0.166	0.36633	B	.	.	0.902953	0.12768	9.287	0.87669420520668373	0.17395	0.01676	0.05356	N	AEFDGBHCI	0.036230	0.04793	N	-1.1159095254178	0.06360	0.2925335	-1.38397556372425	0.03422	0.1595951	0.999999999998504	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.07	-8.13	0.00945	-0.156000	0.10086	0.059000	0.14106	-0.331000	0.05774	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2457:0.3279:0.3181:0.1084	2.410	0.04152	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1308.33	36	chr1	155910776	.	C	G	1308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=1062;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.06;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800:.	18	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	1562.83	40	chr1	156011822	.	G	C	1562.83	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-1.056;DP=1208;ExcessHet=2.0135;FS=209.49;InbreedingCoeff=-0.3623;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=0.591;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:62,0:77:99:0|1:156011822_G_A:104,288,2173:156011822	10	0	1	8
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	568.58	42	chr1	156011827	.	G	A	568.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.242;DP=1001;ExcessHet=0.119;FS=149.47;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=0.387;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	16	0	2	1
chr1	156055312	156055312	A	T	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon2:c.A118T:p.T40S,LAMTOR2:NM_014017:exon2:c.A118T:p.T40S	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0126249190542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.11807	T	0.795	0.05327	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	0.999966	0.52935	D	-0.695	0.01866	N	1.93	0.22881	T	0.29	0.04947	N	0.563	0.58713	-0.9785	0.35345	T	0.008	0.02926	T	10	0.16658434	0.31103	T	0.012625	0.31353	T	0.148	0.39182	0.314	0.28935	0.17258766438	0.16869	0.7794308833570521	0.77894	0.976565210549	0.73585	0.857110321522	0.90683	D	0.041985	0.26036	T	-0.111587	0.34506	T	-0.398063	0.33611	T	0.868882775306702	0.51884	D	0.893711	0.64723	D	0.34241402	0.56471	0.24657036	0.50169	0.34241402	0.56471	0.24657036	0.50168	-5.415	0.41690	T	.	.	0.147	0.47546	B	.;.;.	.;.;.	3.558383	0.50059	22.9	0.94942809984755194	0.25841	0.91843	0.54383	D	AEFDGBCI	0.959612	0.98002	D	-0.345524524041946	0.27437	1.505324	-0.0725914242208984	0.36527	2.126947	0.9999999999408	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.7	4.57	0.55860	8.691000	0.91006	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9245:0.0:0.0755:0.0	10.730	0.45292	318	0.87072	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1901.33	34	chr1	156055312	.	A	T	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=820;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.83;SOR=0.915	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1430	18	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.02632	868.33	38	chr1	156244810	.	G	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.383;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	18	0	1	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.02632	618.33	38	chr1	156244850	.	C	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.923;DP=705;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-0.281;SOR=1.069	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	18	0	1	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.02632	2275.33	37	chr1	156266009	.	G	A	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=812;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.642;SOR=0.635	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1325	18	0	1	0
chr1	156325024	156325024	T	C	exonic	CCT3	.	nonsynonymous SNV	CCT3:NM_001008800:exon4:c.A256G:p.S86G,CCT3:NM_005998:exon6:c.A370G:p.S124G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	.	0.00299521	0.0012	0	0	0	0	1.499e-05	0	0.0090	0.0010996	170	154602	rs568371590	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	2.236e-05	0	5.038e-05	0	0	8.094e-06	0.0004	0.0080	0.0002	0.0002	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.28	0.28395	T	0.327	0.19599	T	0.0	0.02946	B	0.003	0.08700	B	0.000002	0.62929	D	0.098887	0.560948	0.31257	N	1.375	0.34280	L	-1.25	0.90083	T	-1.73	0.49846	N	0.153	0.27910	-0.6077	0.64499	T	0.356	0.71912	T	10	0.012339562	0.00266	T	.	.	.	0.211	0.50185	0.473	0.54859	0.595254844501	0.59204	0.3281986608329994	0.32732	0.247031045068	0.27239	0.379136145115	0.22134	T	0.520094	0.83201	D	-0.300764	0.08588	T	-0.19883	0.54757	T	0.0234866725732969	0.01081	T	0.908809	0.67884	D	0.18849722	0.40352	0.1347888	0.32291	0.18849722	0.40351	0.1347888	0.32290	-5.608	0.45495	T	.	.	0.058	0.07177	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.726274	0.35675	19.96	0.99143598162971192	0.53600	0.73781	0.36089	D	AEFBHCI	0.200214	0.32696	N	-0.201547362518191	0.33071	1.872123	-0.0210955045498689	0.38764	2.288508	0.361853885192808	0.19785	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	4.28	0.50183	0.479000	0.21938	3.432000	0.38322	0.644000	0.52426	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.1817:0.0:0.8183	6.060	0.19060	428	0.80967	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1195.33	33	chr1	156325024	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.631;DP=732;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.52;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr1	156544469	156544469	G	A	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon20:c.C2308T:p.H770Y	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0013	0.00299521	0.0030	0.0003	0.0004	0	0.0132	0.0020	0.0022	0.0081	0.0027425	424	154602	rs1078890	0.0024	0.0024	0.0021	0.0027	0.0085	0.0023	0.0023	0.0080	0.0078	0.0002	0.0008	3.827e-05	2.519e-05	0.0138	0.0033	0.0017	0.0019	0.0085	0.0025	0.0025	0.0019	0.0031	0.0064	0.0023	0.0022	0.0047	0.0041	0.0003	0	0.0010	0	0.0004	0.0147	0	0.0023	0.0009	0.0064	1.0	0.00964	T	1.0	0.01155	T	0.997	0.70673	D	0.992	0.80445	D	0.000021	0.62929	N	0.115150	0.896841	0.27778	N	1.355	0.33814	L	1.82	0.25018	T	-0.02	0.07299	N	0.179	0.19325	-1.0842	0.06553	T	0.037	0.15770	T	10	0.009949565	0.00223	T	.	.	.	0.117	0.32689	.	.	0.445711490874	0.44190	0.48171997080650863	0.48091	0.167720332786	0.18908	0.375248074532	0.21581	T	0.05014	0.28509	T	-0.511767	0.00490	T	-0.502345	0.22105	T	0.0235875512316063	0.01093	T	0.190681	0.02037	T	0.029790608	0.02532	0.04297259	0.05241	0.029790608	0.02532	0.04297259	0.05241	-4.832	0.34962	T	.	.	0.065	0.02038	B	.	.	2.005127	0.25474	16.78	0.91446367136325746	0.20716	0.15213	0.18800	N	AEFBI	0.062974	0.12139	N	-0.18758735773565	0.33651	1.911532	-0.239020038322842	0.30151	1.695219	0.913933773564548	0.26438	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.73	2.87	0.32523	1.423000	0.34445	5.243000	0.48069	-0.113000	0.14837	0.735000	0.28974	1.000000	0.68203	0.922000	0.45779	0.2961:0.0:0.7039:0.0	6.366	0.20660	621	0.65931	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	rs1078890	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	690.33	36	chr1	156544469	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.405;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.563;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	156548629	156548629	C	T	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon17:c.G1945A:p.G649S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0071	0.00579073	0.0021	0.0216	0.0012	0	0	4.548e-05	0.0023	6.815e-05	0.0019534	302	154602	rs77834544	0.0008	0.0008	0.0010	0.0007	0.0272	0.0008	0.0008	0.0257	0.0251	0.0272	0.0014	0	2.522e-05	0	0.0030	9.19e-05	0.0018	6.986e-05	0.0065	0.0065	0.0068	0.0062	0.0221	0.0062	0.0060	0.0209	0.0204	0.0221	0	0.0037	0	0	0	0	8.822e-05	0.0052	0	0.862	0.02658	T	0.817	0.03863	T	0.004	0.12183	B	0.003	0.08700	B	0.078609	0.21033	N	0.503962	0.999997	0.08975	N	-0.145	0.04423	N	3.39	0.05710	T	1.64	0.00621	N	0.049	0.02088	-0.9799	0.35025	T	0.002	0.00646	T	10	0.0030549169	0.00050	T	.	.	.	0.018	0.03083	.	.	0.227934060464	0.22382	0.18616659376740055	0.18534	0.140115118664	0.15791	0.306780874729	0.11421	T	0.052295	0.29122	T	-0.684639	0.00045	T	-0.738628	0.03949	T	0.000577411116473616	0.00005	T	0.39926	0.10144	T	0.015485652	0.00141	0.033855	0.02351	0.015485652	0.00141	0.033855	0.02350	-2.38	0.05012	T	.	.	0.067	0.02428	B	.	.	0.343849	0.07174	3.759	0.48293710096643899	0.04018	0.04277	0.09815	N	AEFBI	0.052088	0.09265	N	-1.52795762898217	0.01668	0.07296359	-1.51456104778203	0.02232	0.102331	0.853021634947868	0.25080	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.7	-2.13	0.06745	-0.367000	0.07607	-1.154000	0.06172	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4748:0.0:0.5252	9.446	0.37859	634	0.64659	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.021739	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1870.33	33	chr1	156548629	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=832;ExcessHet=0;FS=4.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.441;SOR=0.416	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.02632	659.33	35	chr1	156581456	.	G	A	659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.098;DP=700;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.367;SOR=0.483	GT:AD:DP:GQ:PL	0/1:38,29:67:99:673,0,957	18	0	1	0
chr1	156651494	156651494	C	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon7:c.C1102T:p.P368S,BCAN:NM_198427:exon7:c.C1102T:p.P368S	.	10	1488	22	0	2	24	0.00733823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00201397073222	0.0011	0.00179712	0.0012	9.829e-05	0.0023	0	0	0.0015	0.0045	0.0007	0.0011125	172	154602	rs147928348	0.0009	0.0009	0.0009	0.0010	0.0059	0.0009	0.0009	0.0044	0.0038	0.0003	0.0016	0.0010	0	0.0002	0.0059	0.0010	0.0011	0.0008	0.0010	0.0010	0.0009	0.0011	0.0015	0.0008	0.0008	0.0012	0.0011	0.0003	0	0.0013	0.0012	0	0.0003	0	0.0015	0.0014	0.0012	0.407	0.31383	T	0.761	0.05470	T	0.013	0.26235	B	0.005	0.32635	B	0.013247	0.28902	N	0.217974	1	0.08975	N	1.745	0.45235	L	2.61	0.13095	T	0.35	0.03761	N	0.051	0.02272	-0.9750	0.36125	T	0.009	0.03448	T	10	0.004115522	0.00081	T	0.002014	0.03642	T	0.026	0.05648	.	.	0.253726318573	0.24972	0.5818805190346956	0.58117	0.0985141093162	0.11135	0.304689288139	0.11104	T	0.081451	0.36601	T	-0.644448	0.00078	T	-0.72856	0.04393	T	0.0114912724502996	0.00173	T	0.562944	0.19809	T	0.02627915	0.01664	0.026089821	0.00681	0.02627915	0.01664	0.026089821	0.00681	-4.805	0.34650	T	.	.	0.074	0.05188	B	.;.	.;.	0.721665	0.10909	7.578	0.80098141787209498	0.13044	0.04892	0.10638	N	AEFDGBCI	0.106578	0.21260	N	-0.779857269607172	0.13836	0.6845232	-0.835444297810683	0.13637	0.7085556	0.997868286997931	0.36124	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.530356	0.10902	0	.	.	2.13	1.2	0.20181	0.397000	0.20608	0.574000	0.19636	-0.266000	0.06809	0.001000	0.13787	0.036000	0.21445	0.212000	0.22240	0.2824:0.5501:0.0:0.1675	2.671	0.04752	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005544	0.010101	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1170.33	33	chr1	156651494	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.67;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.396;SOR=0.599	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr1	156652718	156652718	G	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon8:c.G1768T:p.G590C,BCAN:NM_198427:exon8:c.G1768T:p.G590C	.	8	1498	15	1	0	17	0.00564222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0121925681322	7.7e-05	0.000199681	0.0002	0	8.667e-05	0	0	0.0001	0.0011	0.0009	0.0001617	25	154602	rs369853236	0.0001	0.0001	7.932e-05	0.0001	0.0010	0.0001	9.409e-05	0.0008	0.0008	3.012e-05	2.264e-05	0.0007	0	0	0.0007	3.707e-05	0.0003	0.0010	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0004	3.514e-05	2.614e-05	7.29e-05	3.029e-05	0	0	6.534e-05	0.0003	0	0	0	7.351e-05	0.0005	0.0004	0.015	0.72154	D	0.074	0.47581	T	0.369	0.57599	B	0.022	0.51870	B	0.336996	0.14023	N	0.590261	0.715889	0.30020	N	0	0.06538	N	2.44	0.15145	T	2.08	0.00371	N	0.201	0.22228	-1.0508	0.14175	T	0.018	0.07659	T	10	0.019789904	0.00447	T	0.012193	0.30540	T	0.107	0.30369	.	.	0.467416895013	0.46368	0.3839416462880603	0.38309	0.27292665473	0.29804	0.428180038929	0.28960	T	0.090346	0.38566	T	-0.492161	0.00632	T	-0.54033	0.18263	T	0.116904978384697	0.14123	T	0.671933	0.28057	T	0.144664	0.33196	0.11347958	0.27388	0.144664	0.33196	0.11347958	0.27388	-10.323	0.75823	D	.	.	0.171	0.38605	B	.;.	.;.	4.610645	0.73108	25.9	0.99563982787463123	0.71953	0.10136	0.15725	N	AEFBCI	0.477879	0.52068	N	-0.0411888931683961	0.39997	2.367872	0.0425575121128312	0.41713	2.510708	0.999999991662722	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.29	4.29	0.50359	5.845000	0.69157	6.457000	0.55686	0.676000	0.76740	0.745000	0.29079	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	13.583	0.61378	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2849.83	34	chr1	156652718	.	G	T	2849.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=914;ExcessHet=0.119;FS=3.694;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.896;SOR=0.947	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	17	0	2	0
chr1	156657729	156657729	A	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon11:c.A2264T:p.D755V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.050127495873	.	.	8.379e-06	9.87e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs778115371	1.096e-05	1.094e-05	8.178e-06	1.376e-05	5.997e-05	6.49e-06	5.25e-06	9.93e-06	4.55e-06	5.997e-05	0	0	0	0	0	1.08e-05	1.658e-05	1.16e-05	6.581e-06	6.568e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.000000	1	0.81001	D	-0.28	0.03718	N	2.16	0.19166	T	-4.05	0.74504	D	0.958	0.96758	-1.0842	0.06553	T	0.053	0.22501	T	10	0.8621477	0.85440	D	0.050127	0.64108	D	0.534	0.80426	0.581	0.70733	0.563544018958	0.56017	0.807278848272202	0.80682	0.60531897613	0.55427	0.65486061573	0.60676	T	0.240299	0.60859	T	0.0908319	0.63282	D	0.0748441	0.75233	D	0.845085263252258	0.49747	D	0.964804	0.86967	D	0.53964293	0.69376	0.40819803	0.65144	0.53964293	0.69377	0.40819803	0.65144	-13.053	0.89581	D	.	.	0.913	0.83674	P	.	.	5.547135	0.92016	32	0.99473368074307456	0.66472	0.98197	0.80448	D	ALL	0.930261	0.91729	D	0.569103639194587	0.71252	5.622802	0.584812205872681	0.73849	6.038499	1.0	0.98316	0.72623	0.87236	0	0.218748	0.04544	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	5.1	5.1	0.68917	9.325000	0.96006	11.084000	0.85803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.885	0.57431	779	0.47767	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr1	156657729	.	A	T	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=761;ExcessHet=0;FS=0.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=1.43;SOR=0.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	18	0	1	0
chr1	156669969	156669969	C	T	exonic	NES	.	nonsynonymous SNV	NES:NM_006617:exon4:c.G4219A:p.G1407R	.	359	1161	2	0	0	2	0.000860585	.	.	.	706737	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0103	0.0121805	0.0032	0.0373	0.0020	0	0	9.223e-05	0.0011	0	0.00315	487	154602	rs74118731	0.0010	0.0010	0.0012	0.0009	0.0349	0.0010	0.0010	0.0332	0.0325	0.0349	0.0027	0	0	0	0.0023	4.407e-05	0.0025	9.275e-05	0.0099	0.0100	0.0100	0.0099	0.0350	0.0095	0.0093	0.0335	0.0329	0.0350	0	0.0028	0	0	0	0.0068	4.412e-05	0.0047	0.0002	0.169	0.22920	T	0.286	0.21277	T	0.02	0.18235	B	0.012	0.16012	B	0.286346	0.14850	N	0.501280	1	0.08975	N	1.445	0.36358	L	-2.16	0.86549	D	-3.13	0.63901	D	0.164	0.17278	-0.7006	0.60409	T	0.289	0.66084	T	10	0.002946794	0.00048	T	.	.	.	0.108	0.30607	0.152	0.05544	0.739281067999	0.73695	0.009036318707236979	0.00866	0.0991782034747	0.11207	0.50548350811	0.39592	T	0.499603	0.82055	T	-0.471071	0.00837	T	-0.422978	0.30734	T	0.00920745799562415	0.00116	T	0.707729	0.31835	T	0.09719495	0.22908	0.109687194	0.26439	0.09719495	0.22907	0.109687194	0.26439	-3.826	0.21193	T	.	.	0.156	0.34580	B	.	.	1.462631	0.18854	13.96	0.95641119360894977	0.27438	0.09022	0.14859	N	AEFDGBHCI	0.099968	0.20111	N	-0.636599507514574	0.17852	0.9221919	-0.618312747459468	0.19022	1.018827	0.999998134882196	0.74766	0.645754	0.44609	0	0.610034	0.51514	0	0.696144	0.63334	0	0.645665	0.59343	0	.	.	4.99	0.957	0.18736	0.248000	0.17971	0.490000	0.18893	0.587000	0.30956	0.000000	0.06391	0.023000	0.20922	0.939000	0.47918	0.0:0.5599:0.0:0.4401	7.966	0.29261	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	39	chr1	156669969	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.172;DP=1464;ExcessHet=0;FS=4.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.4;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800:.	18	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.33	119	chr1	156815838	.	G	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.519;DP=1883;ExcessHet=0;FS=80.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.09;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:134,0:134:99:.:.:0,120,1800:.	18	0	1	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	340.42	119	chr1	156815839	.	G	C	340.42	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.812;DP=2091;ExcessHet=0.119;FS=190.118;InbreedingCoeff=-0.0872;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.51;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:134,0:134:99:.:.:0,120,1800:.	15	0	2	2
chr1	156815840	156815840	T	C	splicing	NTRK1	NM_001007792:exon1:c.9+2T>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998468	0.22137	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503101	0.00549	T	-0.960446	0.00231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.307850	0.02582	0.317	0.59977697429656796	0.06352	0.01792	0.05602	N	AEFGBCI	.	.	.	-1.08617453158003	0.06898	0.3188359	-1.35950259107624	0.03695	0.1728951	0.999999997695394	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.112941	0.23894	4.23	-8.46	0.00822	-3.648000	0.00453	-5.931000	0.01549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0947:0.5942:0.1907:0.1204	4.498	0.11261	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.33	119	chr1	156815840	.	T	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.697;DP=1744;ExcessHet=0;FS=80.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.88;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:134,0:134:99:.:.:0,120,1800:.	18	0	1	0
chr1	156873722	156873722	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon8:c.C940T:p.R314C,NTRK1:NM_002529:exon8:c.C940T:p.R314C,NTRK1:NM_001007792:exon9:c.C850T:p.R284C	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	244247	not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_cancer	MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.0157940842566	0.0018	0.00239617	0.0005	0.0047	9.381e-05	0	0	3.326e-05	0	0.0005	0.000414	64	154602	rs137994522	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	6.724e-05	0	0	0	0.0002	7.197e-06	0.0003	0.0003	0.0012	0.0012	0.0012	0.0011	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0003	0	0	0	0.0034	4.411e-05	0	0.0004	0.014	0.53900	D	0.043	0.49942	D	0.997	0.70673	D	0.58	0.50189	P	0.242726	0.15677	N	0.610361	0.99582	0.43918	D	2.095	0.58118	M	1.47	0.31987	T	-3.45	0.67589	D	0.605	0.62273	-1.0551	0.13013	T	0.101	0.37443	T	10	0.013421059	0.00285	T	0.015794	0.36715	T	0.191	0.46948	.	.	0.593372671839	0.59015	0.8939050585774362	0.89361	0.90969639693	0.71008	0.452191740274	0.32243	T	0.732	0.92507	D	-0.42863	0.01511	T	-0.388345	0.34746	T	0.0625975694927707	0.07571	T	0.951205	0.84269	D	0.2424861	0.47176	0.14187753	0.33771	0.18946278	0.40489	0.21467185	0.46025	-8.942	0.69776	D	0.2257435838038201	0.30503	0.180	0.39151	B	.;.;.;.	.;.;.;.	4.683446	0.74978	26.2	0.99912984844801345	0.98167	0.29519	0.23843	N	AEFDBI	0.061284	0.11706	N	0.386476586388501	0.60690	4.260565	0.37195473179357	0.59842	4.165547	0.99652856976121	0.34806	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.631631	0.49550	0	.	.	6.17	5.19	0.71428	1.377000	0.33923	4.887000	0.45725	0.599000	0.40250	0.009000	0.18154	1.000000	0.68203	0.910000	0.44547	0.1347:0.8653:0.0:0.0	17.133	0.86610	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001531	0.010638	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	1987.33	33	chr1	156873722	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=780;ExcessHet=0;FS=6.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=2.04;SOR=1.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	18	0	1	0
chr1	156876404	156876404	T	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon13:c.T1619C:p.L540P,NTRK1:NM_001007792:exon14:c.T1529C:p.L510P,NTRK1:NM_002529:exon14:c.T1637C:p.L546P	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	0.19521000819	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297390807	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	2.63e-05	2.627e-05	2.57e-05	2.692e-05	9.653e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000358	0.45440	D	0.000000	1	0.81001	D	2.76	0.80626	M	-2.83	0.91249	D	-6.18	0.90294	D	0.944	0.95841	0.868	0.95252	D	0.834	0.94426	D	10	0.94046855	0.93373	D	0.19521	0.86408	D	0.928	0.98267	0.773	0.89924	0.989610041309	0.98949	0.9600929605418825	0.95995	1.13869301168	0.78854	0.78736281395	0.80041	T	0.910604	0.98314	D	0.446645	0.92329	D	0.403798	0.92233	D	0.996497213840485	0.89462	D	0.970603	0.89432	D	0.9706482	0.98320	0.94787025	0.98269	0.9706482	0.98320	0.94787025	0.98270	-14.204	0.94610	D	0.6334220308667733	0.70313	0.982	0.91596	P	.;.;.;.	.;.;.;.	4.673152	0.74702	26.2	0.9987200576126819	0.94989	0.98378	0.82168	D	AEFDBHCIJ	0.977390	0.99720	D	0.695016610978813	0.79305	7.049914	0.597286260334892	0.74745	6.189496	0.999999999999773	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	5.27	5.27	0.73797	6.204000	0.72071	7.781000	0.68671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.0:0.0:1.0	14.154	0.64942	556	0.71678	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	580.33	35	chr1	156876404	.	T	C	580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.791;DP=671;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.754;SOR=1.053	GT:AD:DP:GQ:PL	0/1:23,22:45:99:594,0,627	18	0	1	0
chr1	156906700	156906700	C	T	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon6:c.C464T:p.S155L,PEAR1:NM_001353682:exon6:c.C272T:p.S91L,PEAR1:NM_001353683:exon7:c.C272T:p.S91L	.	402	1096	23	1	0	25	0.0112765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00650031980143	0.0015	0.000998403	0.0018	9.615e-05	0.0020	0.0001	0.0003	0.0021	0.0033	0.0027	0.0016559	256	154602	rs61744071	0.0015	0.0015	0.0013	0.0016	0.0302	0.0014	0.0014	0.0265	0.0251	0.0004	0.0021	0.0083	0.0001	0.0001	0.0302	0.0011	0.0028	0.0033	0.0014	0.0014	0.0014	0.0013	0.0044	0.0012	0.0011	0.0029	0.0024	0.0002	0	0.0019	0.0101	0	0.0005	0.0102	0.0014	0.0038	0.0044	1.0	0.25255	T	0.479	0.28669	T	0.04	0.21238	B	0.007	0.12992	B	0.037453	0.24401	N	0.296892	0.921522	0.27281	N	1.13	0.28900	L	1.58	0.29085	T	-0.58	0.17417	N	0.187	0.20793	-1.0542	0.13251	T	0.020	0.08360	T	10	0.006139666	0.00138	T	0.006	0.17129	T	0.077	0.22490	.	.	0.229264304666	0.22521	0.469269647403404	0.46845	0.152569649157	0.17211	0.346681594849	0.17432	T	0.004082	0.03492	T	-0.51999	0.00440	T	-0.517372	0.20561	T	0.0282936650746055	0.01731	T	0.776822	0.40920	T	0.16977288	0.37513	0.08238582	0.18798	0.16977288	0.37513	0.08238582	0.18797	-8.155	0.62121	D	.	.	0.084	0.15070	B	.;.;.	.;.;.	2.401364	0.30853	18.56	0.98484486086236189	0.42014	0.19146	0.20546	N	AEFGBI	0.112749	0.22273	N	-0.431160125728035	0.24383	1.316	-0.305742775347298	0.27913	1.552319	0.999997844131104	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	-0.614000	0.05699	2.741000	0.34462	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	15.405	0.74596	403	0.82567	Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.040404	0.021739	0.058480	0.000000	0.025862	0.024390	0.011364	0.02632	1105.33	39	chr1	156906700	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=3.01;SOR=0.701	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1139	18	0	1	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	41	chr1	156930528	.	G	C	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=736;ExcessHet=0;FS=5.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.147;SOR=1.244	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	18	0	1	0
chr1	156932438	156932438	G	C	exonic	LRRC71	.	nonsynonymous SNV	LRRC71:NM_144702:exon14:c.G1456C:p.E486Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0190851314373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015105466	1.369e-06	1.368e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.019	0.59159	D	0.997	0.70673	D	0.805	0.58399	P	0.002969	0.35639	N	0.125811	0.974653	0.39123	D	.	.	.	0.57	0.54347	T	-1.49	0.36385	N	0.472	0.50778	-0.6368	0.63282	T	0.234	0.60124	T	10	0.5658116	0.65043	D	0.019085	0.41356	T	0.250	0.55888	0.575	0.69957	0.60023526351	0.59704	0.3450875952091452	0.34422	0.626998182673	0.56810	0.498961925507	0.38683	T	0.016305	0.13502	T	-0.0498782	0.44467	T	-0.309423	0.43720	T	0.983951568603516	0.75433	D	0.786121	0.42437	T	0.16743594	0.37140	0.16003506	0.37294	0.16743594	0.37140	0.16003506	0.37293	-6.495	0.50248	T	.	.	0.172	0.37690	B	.	.	4.547996	0.71547	25.7	0.99698630493138274	0.80453	0.82309	0.41556	D	AEFDGBHCI	0.670696	0.63770	D	0.615632861307492	0.74163	6.086163	0.58035681359194	0.73531	5.985936	0.999999999562867	0.74766	0.475973	0.10046	0	0.59043	0.45803	0	0.514364	0.09456	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	5.719000	0.68110	9.772000	0.81558	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	15.353	0.74116	439	0.80177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	587.33	35	chr1	156932438	.	G	C	587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.764;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	18	0	1	0
chr1	157542901	157542901	G	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon6:c.C1081T:p.L361F,FCRL5:NM_031281:exon6:c.C1081T:p.L361F	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0063	0.00599042	0.0020	0.0201	0.0013	0	0	0.0002	0.0011	0	0.0018887	292	154602	rs115306426	0.0007	0.0007	0.0008	0.0007	0.0218	0.0007	0.0007	0.0205	0.0200	0.0218	0.0010	0	0	0	0.0022	0.0001	0.0016	4.639e-05	0.0057	0.0057	0.0059	0.0055	0.0198	0.0054	0.0053	0.0187	0.0183	0.0198	0	0.0017	0	0	0	0	0.0001	0.0033	0.0002	0.357	0.12032	T	0.678	0.06147	T	0.986	0.61523	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	0.12	0.08593	N	2.69	0.12268	T	-0.6	0.24026	N	0.037	0.01825	-1.0497	0.14481	T	0.013	0.05033	T	9	0.003721863	0.00069	T	.	.	.	0.077	0.22490	.	.	0.0920862733494	0.08535	0.13742606916865616	0.13666	0.189962663849	0.21315	0.209943383932	0.00809	T	0.002687	0.02075	T	-0.737355	0.00021	T	-0.815679	0.01542	T	0.00815976016068257	0.00097	T	0.343166	0.07474	T	0.04029657	0.05725	0.05133183	0.08240	0.04029657	0.05725	0.05133183	0.08239	-4.15	0.26024	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	0.315224	0.06903	3.439	0.18004824544295156	0.00548	0.00757	0.03139	N	AEFDBIJ	0.036168	0.04774	N	-1.37128749203953	0.02911	0.1292262	-1.53324939402326	0.02093	0.09576224	0.451523470226899	0.20545	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	3.05	-4.64	0.03109	-0.774000	0.04790	-8.312000	0.00991	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.3557:0.1506:0.2242:0.2695	0.220	0.00155	851	0.35303	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4648.83	33	chr1	157542901	.	G	A	4648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.92;DP=915;ExcessHet=0.119;FS=8.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.01;SOR=0.918	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	17	0	2	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A,FCRL5:NM_031281:exon5:c.A742G:p.T248A	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1522.33	40	chr1	157544364	.	T	C	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=853;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.309;SOR=0.873	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	157552343	157552343	A	G	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon1:c.T20C:p.L7S,FCRL5:NM_031281:exon1:c.T20C:p.L7S	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0630339727169	0.0002	0.000798722	0.0007	0	0.0003	0	0	0.0005	0.0011	0.0032	0.0006274	97	154602	rs139376463	0.0004	0.0004	0.0003	0.0006	0.0037	0.0004	0.0004	0.0034	0.0032	0	0.0002	0.0017	0	0	0.0019	0.0002	0.0005	0.0037	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	0	0	0.0012	0.0020	0	0	0	0.0002	0.0005	0.0033	0.002	0.78490	D	0.002	0.79402	D	0.962	0.90584	D	0.69	0.76457	P	.	.	.	.	0.957321	0.26265	N	2.72	0.79541	M	0.16	0.60610	T	-2.96	0.63782	D	0.505	0.69913	-0.6965	0.60605	T	0.277	0.64865	T	9	0.015307337	0.00321	T	0.063034	0.68840	D	0.278	0.59497	.	.	0.763237125061	0.76108	0.4618330409145972	0.46101	0.414904228319	0.42158	0.344319820404	0.17082	T	0.008712	0.07977	T	-0.310763	0.07682	T	-0.221272	0.52614	T	0.129229771612976	0.15310	T	0.440756	0.12177	T	0.26441956	0.49509	0.34279042	0.59999	0.26441956	0.49509	0.34279042	0.59999	-8.611	0.65162	D	.	.	0.200	0.43895	B	.;.;.	.;.;.	3.387802	0.46888	22.4	0.99626294104386082	0.75716	0.81320	0.40748	D	AEFDGBHCI	0.188957	0.31622	N	0.283578621718234	0.55316	3.69571	0.169705593535087	0.48195	3.038807	0.999999999724134	0.74766	0.500041	0.20204	0	0.52208	0.09955	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	5.01	5.01	0.66477	3.998000	0.56736	5.055000	0.47034	0.756000	0.94297	0.959000	0.33545	0.537000	0.25394	0.085000	0.17524	1.0:0.0:0.0:0.0	11.039	0.47037	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1547.33	38	chr1	157552343	.	A	G	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.769;DP=816;ExcessHet=0;FS=2.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.012;SOR=0.517	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr1	158256794	158256794	G	A	exonic	CD1A	.	nonsynonymous SNV	CD1A:NM_001320652:exon4:c.G580A:p.E194K,CD1A:NM_001763:exon4:c.G613A:p.E205K	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.00978435	0.0051	9.858e-05	0.0003	0.0003	0	0.0001	0.0078	0.0361	0.0044049	681	154602	rs199513468	0.0023	0.0023	0.0013	0.0032	0.0343	0.0022	0.0022	0.0332	0.0328	0.0001	0.0001	3.827e-05	0.0001	3.744e-05	0.0005	0.0001	0.0033	0.0343	0.0013	0.0013	0.0007	0.0018	0.0377	0.0011	0.0011	0.0332	0.0315	9.625e-05	0	0.0001	0	0	0	0	1.47e-05	0.0014	0.0377	0.101	0.30375	T	0.083	0.41405	T	0.877	0.48223	P	0.079	0.28749	B	0.018890	0.27379	N	0.174172	0.999999	0.08975	N	0.89	0.21648	L	5.13	0.01211	T	-3.21	0.64826	D	0.447	0.48504	-0.8224	0.53784	T	0.001	0.00348	T	10	0.0057022274	0.00127	T	.	.	.	0.044	0.11924	.	.	0.363751660372	0.35992	0.29426011165058985	0.29339	0.0387264758305	0.04117	0.364788651466	0.20080	T	0.385151	0.74661	T	-0.551955	0.00284	T	-0.539162	0.18378	T	0.033923377512013	0.02624	T	0.714629	0.32694	T	0.35737464	0.57636	0.19285639	0.42823	0.35737464	0.57636	0.19285639	0.42822	-6.375	0.49314	T	.	.	0.084	0.09772	B	.	.	1.502258	0.19308	14.20	0.98255626239123128	0.39612	0.02527	0.07035	N	AEFI	0.040701	0.06091	N	-0.532139653445709	0.21048	1.114114	-0.611250435183947	0.19203	1.029307	0.997173872827245	0.35344	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	0.556	0.16442	0.094000	0.14946	-0.239000	0.10608	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.115:0.3921:0.4929:0.0	5.562	0.16433	878	0.29785	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003188	0.000000	0.000000	0.000000	0.050000	0.000000	0.003086	0.011450	0.02632	2340.33	46	chr1	158256794	.	G	A	2340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.49;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1314	18	0	1	0
chr1	158329915	158329915	C	T	exonic	CD1B	.	nonsynonymous SNV	CD1B:NM_001764:exon3:c.G544A:p.E182K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00717343882109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.105	0.38016	T	0.0	0.02946	B	0.001	0.04355	B	0.580924	0.11144	N	0.780131	1	0.08975	N	1.885	0.50048	L	3.27	0.06602	T	-2.51	0.54546	D	0.154	0.15888	-0.9152	0.46194	T	0.005	0.01542	T	10	0.08332151	0.13847	T	0.007173	0.19006	T	0.025	0.05312	0.566	0.68768	0.242825505644	0.23883	0.4631749455968398	0.46236	0.0150787792604	0.01433	0.331341505051	0.15137	T	0.07051	0.33978	T	-0.273729	0.11344	T	-0.630969	0.10341	T	0.0646367371082306	0.07876	T	0.325467	0.06691	T	0.3038665	0.53249	0.14224216	0.33846	0.3038665	0.53249	0.14224216	0.33845	-6.265	0.48445	T	.	.	0.092	0.13503	B	.	.	-0.246617	0.02861	0.404	0.94715915799436479	0.25383	0.00559	0.02549	N	AEFDGBHCI	0.030030	0.02944	N	-1.24359394074822	0.04384	0.197765	-1.29318450694281	0.04521	0.2134812	0.999999305753499	0.74766	0.525926	0.21836	0	0.596394	0.48810	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.46	-0.99	0.09715	-3.858000	0.00392	-6.671000	0.01336	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.1743:0.3736:0.1704:0.2817	0.692	0.00836	873	0.30802	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1061.33	34	chr1	158329915	.	C	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.899;DP=733;ExcessHet=0;FS=5.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.17;SOR=1.429	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1360	18	0	1	0
chr1	158354016	158354016	G	C	exonic	CD1E	.	nonsynonymous SNV	CD1E:NM_001042583:exon1:c.G28C:p.G10R,CD1E:NM_001042584:exon1:c.G28C:p.G10R,CD1E:NM_001042585:exon1:c.G28C:p.G10R,CD1E:NM_001042586:exon1:c.G28C:p.G10R,CD1E:NM_001042587:exon1:c.G28C:p.G10R,CD1E:NM_001185107:exon1:c.G28C:p.G10R,CD1E:NM_001185108:exon1:c.G28C:p.G10R,CD1E:NM_001185110:exon1:c.G28C:p.G10R,CD1E:NM_001185112:exon1:c.G28C:p.G10R,CD1E:NM_001185113:exon1:c.G28C:p.G10R,CD1E:NM_001185114:exon1:c.G28C:p.G10R,CD1E:NM_001185115:exon1:c.G28C:p.G10R,CD1E:NM_030893:exon1:c.G28C:p.G10R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0121531330332	.	0.000199681	9.944e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs544192630	4.515e-05	4.515e-05	2.45e-05	6.601e-05	0.0007	3.641e-05	3.322e-05	0.0006	0.0005	0	0	0	0	0	0	0	4.967e-05	0.0007	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.009	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.995989	0.07998	N	0.997349	1	0.08975	N	2.32	0.66415	M	4.6	0.61326	T	-0.96	0.84105	N	0.486	0.55799	-0.9408	0.42489	T	0.235	0.60234	T	10	0.18474105	0.33863	T	0.012153	0.30463	T	0.118	0.32913	0.762	0.89053	0.564910210825	0.56154	0.3082822884694054	0.30741	0.375523553379	0.39009	0.38698682189	0.23243	T	0.076454	0.35424	T	-0.278894	0.10785	T	-0.267303	0.48092	T	0.0662723482958223	0.08118	T	0.634936	0.45757	T	0.11508075	0.27161	0.12828022	0.30866	0.11508075	0.27161	0.12828022	0.30865	-4.893	0.40591	T	.	.	0.300	0.58452	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.873947	0.23803	16.16	0.99067724360746712	0.51645	0.12458	0.17281	N	AEFDBCI	0.098139	0.19781	N	-0.641180526891829	0.17718	0.9140652	-0.818772930865824	0.14041	0.7316028	0.998924468919681	0.37985	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	1.49	0.21966	0.762000	0.26168	3.438000	0.38361	0.671000	0.69459	0.005000	0.17040	0.956000	0.29165	0.001000	0.02609	0.1229:0.0:0.6509:0.2261	4.201	0.09924	867	0.32089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	880.33	33	chr1	158354016	.	G	C	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=704;ExcessHet=0;FS=2.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.778;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr1	158398531	158398531	C	G	exonic	OR10T2	.	nonsynonymous SNV	OR10T2:NM_001004475:exon1:c.G936C:p.K312N	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	0.0041	0.00638978	0.0020	0.0208	0.0013	0	0	4.667e-05	0	0	0.0014101	218	154602	rs6692949	0.0005	0.0005	0.0006	0.0004	0.0179	0.0005	0.0005	0.0167	0.0162	0.0179	0.0010	0	0	0	0.0007	1.462e-05	0.0015	6.069e-05	0.0051	0.0051	0.0051	0.0051	0.0178	0.0048	0.0047	0.0167	0.0163	0.0178	0	0.0018	0	0	0	0	0	0.0057	0.0002	0.004	0.65419	D	0.02	0.58613	D	0.799	0.44910	P	0.242	0.38699	B	0.000520	0.43753	D	0.000000	1	0.08975	N	0.345	0.11182	N	8.17	0.00282	T	-0.94	0.25118	N	0.217	0.24260	-1.1547	0.00891	T	0.000	0.00039	T	10	0.003470838	0.00061	T	.	.	.	0.130	0.35528	0.123	0.02942	0.233785782151	0.22967	0.032662098226971054	0.03214	0.0102049513677	0.00941	0.341854155064	0.16715	T	0.005404	0.04851	T	-0.713353	0.00030	T	-0.783178	0.02359	T	0.0426134838903415	0.04167	T	0.318368	0.06377	T	0.10876685	0.25717	0.07176249	0.15404	0.10876685	0.25716	0.07176249	0.15404	-5.054	0.37420	T	.	.	0.171	0.37520	B	.	.	1.729355	0.22013	15.44	0.99518236601575383	0.69100	0.07197	0.13222	N	AEFBI	0.053790	0.09723	N	-0.619179963584428	0.18368	0.9530939	-0.689910620139836	0.17212	0.9142099	0.936947887450871	0.27276	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	1.5	0.22029	-0.382000	0.07466	0.065000	0.14184	0.597000	0.34315	0.000000	0.06391	0.020000	0.20764	0.161000	0.20682	0.0:0.7169:0.0:0.2831	7.620	0.27349	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.010101	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1781.33	35	chr1	158398531	.	C	G	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.926;DP=1408;ExcessHet=0;FS=3.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.162;SOR=1.052	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr1	158480064	158480064	G	A	exonic	OR10R2	.	nonsynonymous SNV	OR10R2:NM_001004472:exon1:c.G187A:p.V63I	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0082	0.00898562	0.0025	0.0271	0.0014	0	0	8.992e-05	0.0011	6.058e-05	0.0024709	382	154602	rs62642484	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0269	0.0291	0.0023	0	0	0	0.0014	5.396e-05	0.0020	4.637e-05	0.0077	0.0077	0.0078	0.0076	0.0263	0.0074	0.0072	0.0251	0.0245	0.0263	0	0.0036	0	0	0	0	0.0001	0.0085	0	0.513	0.07425	T	0.851	0.03497	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.15	0.08895	N	7.42	0.00404	T	-0.1	0.08495	N	0.028	0.00618	-1.0280	0.21103	T	0.000	0.00039	T	9	0.003356874	0.00058	T	.	.	.	0.023	0.04649	.	.	0.280181792013	0.27631	0.09010993774858955	0.08943	0.0110152575662	0.01025	0.195253193378	0.00332	T	0.001719	0.01148	T	-0.780276	0.00011	T	-0.871959	0.00724	T	0.0067342186007204	0.00076	T	0.153985	0.01332	T	0.023856623	0.01161	0.026932841	0.00811	0.023856623	0.01161	0.026932841	0.00811	-3.909	0.22438	T	.	.	0.083	0.09045	B	.;.;.	.;.;.	0.105438	0.05059	1.602	0.54417183038817918	0.05134	0.01685	0.05375	N	AEFDI	0.034640	0.04326	N	-1.4686849241287	0.02074	0.0912144	-1.39177200179933	0.03339	0.1555489	0.00932488847636858	0.11835	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-1.41	0.08473	-5.012000	0.00188	-9.086000	0.00869	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.3636:0.1327:0.2324:0.2713	0.406	0.00404	672	0.60758	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2496.33	33	chr1	158480064	.	G	A	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=1084;ExcessHet=0;FS=8.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.644;SOR=0.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1419	18	0	1	0
chr1	158607196	158607196	G	T	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G758T:p.G253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0174682951446	.	.	9.889e-05	0	0.0003	0	0	0.0001	0	6.056e-05	7.76e-05	12	154602	rs758530123	4.515e-05	4.515e-05	4.764e-05	4.263e-05	0.0014	3.641e-05	3.321e-05	0.0007	0.0005	0	0.0001	0	0	0	0.0014	3.957e-05	6.623e-05	4.637e-05	3.288e-05	3.284e-05	3.857e-05	2.692e-05	6.548e-05	1.262e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.548e-05	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.028902	0.25531	N	0.193146	0.999978	0.53665	D	2.15	0.60148	M	1.3	0.35590	T	-8.68	0.97599	D	0.356	0.39760	-0.6743	0.61634	T	0.206	0.56471	T	10	0.42724717	0.57256	T	0.017468	0.39181	T	0.275	0.59130	0.537	0.64730	0.602985972322	0.59981	0.12659852446670775	0.12585	0.0161916664348	0.01549	0.248453333974	0.03607	T	0.007731	0.07117	T	-0.163942	0.26157	T	-0.203968	0.54269	T	0.553010612297232	0.34590	D	0.880612	0.59878	D	0.8626998	0.88292	0.87477744	0.93197	0.8626998	0.88293	0.87477744	0.93198	-8.826	0.66570	D	.	.	0.202	0.42606	B	.;.	.;.	3.657674	0.51945	23.2	0.99749546410992351	0.84152	0.23933	0.22234	N	AEFI	0.232491	0.35556	N	0.440093822823289	0.63645	4.602085	0.32180612437783	0.56824	3.846336	0.78632045250227	0.23936	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	3.007000	0.49223	7.176000	0.57738	0.672000	0.70159	0.430000	0.26409	1.000000	0.68203	0.869000	0.41347	0.0:0.0:1.0:0.0	17.337	0.87172	543	0.72751	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2045.33	33	chr1	158607196	.	G	T	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=836;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.584;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	158613859	158613859	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon50:c.A6851G:p.D2284G	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277622	not_provided|Elliptocytosis_2|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|not_specified	MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.385842843384	0.0003	.	7.745e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs374589766	4.31e-05	4.309e-05	2.587e-05	6.052e-05	0.0009	3.443e-05	3.129e-05	0.0006	0.0006	0.0009	4.478e-05	0	0	0	0.0005	1.439e-05	0.0002	1.159e-05	0.0002	0.0002	0.0003	9.445e-05	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.557e-05	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005054	0.33144	N	0.000000	0.999999	0.58761	D	3.42	0.91902	M	.	.	.	.	.	.	0.939	0.94550	0.087	0.83935	D	0.412	0.76020	T	10	0.7668917	0.76774	D	0.385843	0.93077	D	0.492	0.77847	.	.	0.844359360947	0.84286	0.7411199894194388	0.74057	0.243925274946	0.26902	0.524457931519	0.42254	T	0.747578	0.93057	D	0.184573	0.72464	D	0.415645	0.92608	D	0.700497925281525	0.40742	D	0.794021	0.43594	T	0.7661204	0.81815	0.6856532	0.81516	0.7661204	0.81817	0.6856532	0.81517	-10.954	0.79405	D	0.7825151592355348	0.86219	0.606	0.69107	P	.;.	.;.	4.538572	0.71321	25.7	0.9987837202722909	0.95491	0.97949	0.78358	D	AEFBI	0.879862	0.80610	D	0.937989833712136	0.93494	12.07583	0.84643597533778	0.92805	11.64312	0.998952597380973	0.38059	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	7.441000	0.79617	7.875000	0.72177	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.081	0.64447	547	0.72440	EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	603.33	40	chr1	158613859	.	T	C	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=707;ExcessHet=0;FS=9.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-1.115;SOR=2.012	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1325	18	0	1	0
chr1	158639683	158639683	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon35:c.G4879A:p.E1627K	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	2452611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.0707245556268	.	.	4.147e-05	0	0.0002	0	0	1.5e-05	0.0022	0	3.23e-05	5	154602	rs748582690	8.895e-06	8.893e-06	4.084e-06	1.375e-05	9.275e-05	4.96e-06	3.82e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	3.598e-06	1.656e-05	9.275e-05	2.627e-05	2.625e-05	0	5.373e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	6.543e-05	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.005884	0.32428	N	0.000000	0.999999	0.58761	D	2.605	0.76211	M	0.85	0.47130	T	-3.66	0.70067	D	0.627	0.64137	-0.6223	0.63893	T	0.280	0.65189	T	10	0.8167789	0.80910	D	0.070725	0.71078	D	0.358	0.67872	0.666	0.80401	0.780994167065	0.77897	0.5782838691087411	0.57757	0.212995233942	0.23805	0.651547312737	0.60205	T	0.499956	0.82075	T	0.195086	0.73434	D	0.0424509	0.73088	D	0.863918244838715	0.51413	D	0.974303	0.90829	D	0.66330963	0.76076	0.7308969	0.84099	0.6898355	0.77504	0.6710989	0.80701	-10.19	0.75041	D	0.7268593527600363	0.80833	0.143	0.31381	B	.;.	.;.	4.228397	0.64011	24.7	0.99864209083629196	0.94276	0.99512	0.96919	D	AEFBI	0.907387	0.86136	D	0.826792416109784	0.87750	9.327492	0.781624640633009	0.88487	9.600864	0.999999985274632	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.35	5.35	0.76297	5.605000	0.67317	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:1.0:0.0:0.0	18.166	0.89656	648	0.63242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2009.33	42	chr1	158639683	.	C	T	2009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=793;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.561;SOR=0.563	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr1	158642855	158642855	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.A4564G:p.T1522A	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	277665	SPTA1-related_disorder|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3	.|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0207780062643	0.0002	0.000399361	0.0007	0	0.0003	0	0	0.0011	0.0022	0.0005	0.000705	109	154602	rs201910178	0.0010	0.0010	0.0009	0.0010	0.0075	0.0009	0.0009	0.0057	0.0051	0.0002	0.0003	0.0037	0	0.0002	0.0075	0.0010	0.0011	0.0006	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0029	0	9.416e-05	0	0.0013	0	0	0.099	0.30656	T	0.458	0.12668	T	0.132	0.27209	B	0.156	0.34472	B	0.885278	0.08726	N	0.917774	0.990658	0.24142	N	2.5	0.72771	M	0.8	0.48769	T	-1.39	0.34397	N	0.474	0.50958	-0.9474	0.41414	T	0.061	0.25310	T	10	0.013800144	0.00292	T	0.020778	0.43441	T	0.063	0.18251	.	.	0.648292071497	0.64537	0.05070870838630936	0.05012	0.0609435135893	0.06783	0.252494364977	0.04035	T	0.246818	0.61635	T	-0.461801	0.00958	T	-0.486562	0.23751	T	0.035502270005993	0.02894	T	0.910209	0.68156	D	0.108236	0.25591	0.08472892	0.19511	0.108236	0.25591	0.08472892	0.19510	-5.355	0.40484	T	0.4290842476968101	0.51652	0.085	0.10111	B	.;.	.;.	2.851845	0.37657	20.5	0.97629653443492093	0.35012	0.92535	0.55939	D	AEFBI	0.383512	0.46499	N	-0.199141202593261	0.33170	1.878869	-0.119189309491666	0.34617	1.993258	0.126240631492949	0.16995	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.84	0.32241	3.990000	0.56677	0.947000	0.22895	-0.120000	0.14102	1.000000	0.71638	0.077000	0.22320	0.983000	0.59808	0.0:0.1536:0.0:0.8464	8.846	0.34331	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.005051	0.001359	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1562.33	55	chr1	158642855	.	T	C	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=822;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.327;SOR=0.754	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1576,0,1723	18	0	1	0
chr1	158717620	158717620	G	C	exonic	OR6K3	.	nonsynonymous SNV	OR6K3:NM_001005327:exon1:c.C496G:p.L166V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00590346901286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.36509	T	0.05	0.48855	T	0.998	0.73220	D	0.974	0.73157	D	.	.	.	.	1	0.08975	N	2.225	0.63025	M	8.3	0.00261	T	-2.91	0.60982	D	0.353	0.40565	-0.9559	0.39934	T	0.001	0.00287	T	9	0.29009947	0.46590	T	0.005903	0.15371	T	0.059	0.16972	0.454	0.51775	0.541105671861	0.53764	0.09983427110864787	0.09914	0.272298806262	0.29743	0.241298228502	0.02908	T	0.010159	0.09196	T	-0.253451	0.13678	T	-0.601841	0.12658	T	0.869751214981079	0.51968	D	0.842116	0.51841	T	0.20199443	0.42229	0.2288443	0.47939	0.20199443	0.42229	0.2288443	0.47937	-6.632	0.51297	T	.	.	0.156	0.37839	B	.;.	.;.	1.948660	0.24753	16.51	0.99506628095645056	0.68381	0.14158	0.18254	N	AEFDBI	0.136036	0.25657	N	-0.0838528558431567	0.38100	2.226371	-0.316427025188347	0.27567	1.530624	0.184603237715748	0.17918	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.04	1.11	0.19640	0.266000	0.18300	-1.548000	0.05195	-0.187000	0.09635	0.006000	0.17386	0.000000	0.08366	0.561000	0.30436	0.2631:0.0:0.7369:0.0	8.418	0.31845	702	0.57624	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2612.33	34	chr1	158717620	.	G	C	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.007;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	158766427	158766427	G	A	exonic	OR6N1	.	nonsynonymous SNV	OR6N1:NM_001005185:exon1:c.C256T:p.L86F	.	423	1064	34	1	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0068	0.00359425	0.0090	0.0021	0.0034	0.0001	0.0150	0.0106	0.0077	0.0130	0.0084863	1312	154602	rs857828	0.0092	0.0092	0.0089	0.0094	0.0131	0.0090	0.0090	0.0125	0.0122	0.0012	0.0037	0.0181	0.0008	0.0146	0.0068	0.0092	0.0084	0.0131	0.0071	0.0071	0.0067	0.0076	0.0101	0.0068	0.0066	0.0086	0.0083	0.0022	0.0307	0.0027	0.0164	0	0.0168	0.0102	0.0092	0.0076	0.0101	0.088	0.32296	T	0.046	0.49120	D	0.989	0.62824	D	0.881	0.62579	P	0.000856	0.41440	D	0.000000	0.725006	0.29885	N	1.955	0.52871	M	2.85	0.10578	T	-2.8	0.59226	D	0.217	0.24260	-1.0842	0.06553	T	0.029	0.12234	T	10	0.0044329762	0.00091	T	.	.	.	0.104	0.29647	.	.	0.639181034743	0.63621	0.0798749193464939	0.07922	0.200968445806	0.22491	0.354848116636	0.18633	T	0.006121	0.05559	T	-0.548111	0.00299	T	-0.549069	0.17416	T	0.0269187531766479	0.01533	T	0.117088	0.00899	T	0.21584377	0.44027	0.22670516	0.47656	0.21584377	0.44027	0.22670516	0.47655	-6.688	0.51720	T	.	.	0.122	0.29339	B	.;.	.;.	2.714663	0.35491	19.91	0.99871495332326199	0.94902	0.31820	0.24433	N	AEFBI	0.174362	0.30149	N	0.247374379502351	0.53509	3.519439	0.212976483071852	0.50568	3.247356	5.0494702153726E-4	0.07176	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	-0.672000	0.05345	0.096000	0.14582	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.0:0.1556:0.8444:0.0	13.726	0.62240	845	0.36510	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.050000	0.000000	0.009146	0.015152	0.02632	1855.33	47	chr1	158766427	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.555;DP=982;ExcessHet=0;FS=5.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.658;SOR=0.601	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	158973749	158973749	C	T	exonic	PYHIN1	.	nonsynonymous SNV	PYHIN1:NM_152501:exon8:c.C1462T:p.H488Y,PYHIN1:NM_198928:exon8:c.C1435T:p.H479Y	.	432	1068	22	0	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0064	0.00459265	0.0026	0.0194	0.0025	0	0	0.0008	0.0066	0.0011	0.0023286	360	154602	rs112218133	0.0011	0.0011	0.0011	0.0010	0.0330	0.0010	0.0010	0.0292	0.0277	0.0196	0.0025	0.0036	0	0	0.0330	0.0002	0.0034	0.0010	0.0060	0.0060	0.0061	0.0059	0.0188	0.0057	0.0055	0.0177	0.0173	0.0188	0	0.0027	0.0055	0.0002	0	0.0374	0.0004	0.0104	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.985	0.64070	D	0.336	0.48765	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.43	0.05574	T	-0.1	0.08495	N	0.235	0.27077	-0.9274	0.44516	T	0.005	0.01542	T	9	0.0050058663	0.00108	T	.	.	.	0.064	0.18567	.	.	0.183819452728	0.17975	0.12272956610527576	0.12198	0.129374146952	0.14584	0.351850420237	0.18194	T	2.18E-4	0.00041	T	-0.641892	0.00081	T	-0.679873	0.06991	T	0.012053524399577	0.00191	T	0.454355	0.12956	T	0.13472876	0.31292	0.18615036	0.41770	0.13472876	0.31292	0.18615036	0.41769	-4.942	0.36797	T	.	.	0.074	0.08609	B	.;.	.;.	-0.089984	0.03702	0.754	0.95913469827504583	0.28167	0.00687	0.02939	N	AEFBI	0.035183	0.04484	N	-0.721463761998977	0.15420	0.7769134	-0.913568486575652	0.11773	0.6018527	5.6976317477569E-4	0.07335	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.82	-0.484	0.11469	-0.768000	0.04820	-5.327000	0.01760	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.5345:0.4655:0.0:0.0	6.066	0.19087	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032729	0.010101	0.039402	0.102339	0.050000	0.025862	0.003049	0.000000	0.02632	1480.33	39	chr1	158973749	.	C	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.727;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.861;SOR=0.717	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	18	0	1	0
chr1	159018529	159018529	C	T	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon4:c.C682T:p.P228S,IFI16:NM_001376587:exon5:c.C850T:p.P284S,IFI16:NM_001376592:exon5:c.C850T:p.P284S,IFI16:NM_005531:exon5:c.C850T:p.P284S,IFI16:NM_001364867:exon6:c.C850T:p.P284S,IFI16:NM_001376588:exon6:c.C850T:p.P284S,IFI16:NM_001376589:exon6:c.C850T:p.P284S,IFI16:NM_001376591:exon6:c.C850T:p.P284S	.	430	1082	10	0	0	10	0.00459982	.	.	.	2806090	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00346957569323	0.0073	0.00199681	0.0054	0.0015	0.0041	0	0.0018	0.0082	0	0.0018	0.0056338	871	154602	rs149606671	0.0085	0.0085	0.0086	0.0084	0.0098	0.0084	0.0083	0.0096	0.0095	0.0012	0.0045	0.0201	2.52e-05	0.0021	0.0069	0.0098	0.0089	0.0016	0.0057	0.0057	0.0062	0.0052	0.0091	0.0054	0.0053	0.0086	0.0083	0.0017	0.0011	0.0049	0.0176	0.0002	0.0018	0	0.0091	0.0066	0.0010	0.023	0.48186	D	0.325	0.19188	T	0.091	0.38912	B	0.077	0.43280	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.55	0.13795	T	-5.11	0.84315	D	0.195	0.24260	-0.9644	0.38330	T	0.009	0.03227	T	8	0.004410118	0.00090	T	0.00347	0.07847	T	0.028	0.06331	.	.	0.231873229951	0.22792	0.022252710986500997	0.02177	0.256966227711	0.28266	0.2648396492	0.05481	T	0.032307	0.22431	T	-0.598217	0.00150	T	-0.61975	0.11204	T	0.0227025776139553	0.00989	T	0.726327	0.34071	T	0.106426455	0.25164	0.27802032	0.53759	0.106426455	0.25164	0.27802032	0.53758	-5.645	0.45375	T	.	.	0.139	0.33868	B	.;.;.;.;.;.	.;.;.;.;.;.	0.667322	0.10358	7.085	0.95057595716720467	0.26081	0.01801	0.05620	N	AEFBCI	0.045081	0.07332	N	-1.18063718176045	0.05293	0.2409521	-1.321354259839	0.04155	0.1953755	0.999840390220952	0.43971	0.67177	0.52595	0	0.662677	0.63036	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.9	-2.64	0.05757	-1.791000	0.01854	-12.573000	0.00515	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.1912:0.2999:0.3774:0.1315	1.857	0.02987	911	0.21964	.;.;HIN-200/IF120x|HIN-200/IF120x;.;.;HIN-200/IF120x|HIN-200/IF120x	.	.	AIM2|CADM3-AS1	Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.005051	0.013587	0.005848	0.000000	0.008621	0.009146	0.015152	0.02632	1898.33	34	chr1	159018529	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.29;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr1	159304153	159304153	G	A	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon4:c.G302A:p.S101N	.	431	1070	19	2	0	23	0.0106334	.	.	.	706768	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0008	0.0181709	0.0063	0.0002	0.0003	0.0714	0.0005	0.0010	0.0055	0.0040	0.0059055	913	154602	rs2298805	0.0034	0.0034	0.0034	0.0034	0.0850	0.0033	0.0033	0.0826	0.0816	0.0001	0.0006	0.0024	0.0850	0.0013	0.0040	0.0006	0.0054	0.0046	0.0036	0.0036	0.0032	0.0041	0.0773	0.0034	0.0033	0.0711	0.0686	0.0002	0	0.0006	0.0035	0.0773	0.0022	0.0068	0.0008	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	P	3.995	0.96723	H	2.12	0.19726	T	-2.79	0.59059	D	0.483	0.51761	-0.5511	0.66745	T	0.159	0.49212	T	8	0.0032084882	0.00054	T	.	.	.	0.162	0.41843	.	.	0.557365556891	0.55396	0.6099697937867461	0.60928	0.197323763495	0.22113	0.436360627413	0.30080	T	0.735165	0.92619	D	-0.473276	0.00811	T	-0.365752	0.37384	T	0.148157181154454	0.16956	T	0.449655	0.12671	T	0.5811307	0.71670	0.4919939	0.70614	0.5811307	0.71671	0.4919939	0.70614	-10.147	0.74787	D	.	.	0.694	0.78211	P	.;.	.;.	3.454008	0.48109	22.6	0.98360627124908862	0.40638	0.85134	0.44242	D	AEFI	0.425901	0.49048	N	0.443070018720451	0.63811	4.622162	0.197259700354554	0.49697	3.169788	0.00160229383295625	0.08694	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	3.78	0.42629	2.577000	0.45707	9.805000	0.81716	0.676000	0.76740	0.730000	0.28923	1.000000	0.68203	0.005000	0.06747	0.0:0.1909:0.8091:0.0	10.812	0.45754	785	0.46916	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.02632	1361.33	111	chr1	159304153	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.983;DP=734;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.794;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1090	18	0	1	0
chr1	159432425	159432425	T	C	exonic	OR10J4	.	unknown	UNKNOWN	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0012	0	0	0	0	0.0004	0	0.0170	0.0002652	41	154602	rs535032676	0.0006	0.0004	0.0006	0.0007	0.0036	0.0006	0.0005	0.0020	0.0016	0	0	0.0038	0	4.468e-05	0.0010	0.0006	0.0007	0.0036	0.0004	0.0004	0.0004	0.0005	0.0044	0.0003	0.0003	0.0029	0.0024	2.406e-05	0	6.542e-05	0.0023	0	9.42e-05	0	0.0005	0.0009	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4443.33	358	chr1	159432425	.	T	C	4443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=1261;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.987;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1339	18	0	1	0
chr1	159535181	159535181	G	A	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.C827T:p.T276M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00605758012431	0.0002	.	0.0008	0.0005	0.0006	0	0.0003	0.0012	0.0011	0.0002	0.0008279	128	154602	rs149096656	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0010	0.0003	0.0003	0	0	0.0006	0	0.0011	0.0007	0.0002	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	0.0004	0.0011	0.0002	0	0	9.423e-05	0	0.0010	0.0005	0	0.024	0.47745	D	0.08	0.41913	T	0.998	0.73220	D	0.944	0.68059	D	.	.	.	.	0.900281	0.27714	N	-0.06	0.04898	N	8.79	0.00053	T	-3.2	0.64710	D	0.262	0.29659	-0.9408	0.42489	T	0.000	0.00075	T	9	0.06468114	0.08613	T	0.006058	0.15846	T	0.109	0.30843	.	.	0.366479799498	0.36264	0.08469851335899134	0.08403	0.232130552555	0.25761	0.219826221466	0.01300	T	0.125695	0.45157	T	-0.535115	0.00358	T	-0.581966	0.14371	T	0.0499110519886017	0.05485	T	0.375462	0.08961	T	0.07824304	0.17806	0.13777916	0.32923	0.07824304	0.17806	0.13777916	0.32922	-4.415	0.29759	T	.	.	0.124	0.25978	B	.	.	3.096712	0.41717	21.4	0.99789611859103367	0.87572	0.05605	0.11510	N	AEFBI	0.072538	0.14480	N	0.00350986972371223	0.42014	2.523607	-0.0770811858707813	0.36340	2.113583	1.57669135713275E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.94	3.94	0.44807	1.987000	0.40309	1.729000	0.28315	-0.168000	0.11412	0.008000	0.17931	0.117000	0.22861	0.001000	0.02609	0.116:0.0:0.884:0.0	7.634	0.27423	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2321.33	33	chr1	159535181	.	G	A	2321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.027;SOR=0.656	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1451	18	0	1	0
chr1	159535430	159535430	A	G	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.T578C:p.I193T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00224019443569	.	.	4.123e-05	9.634e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs753742483	3.01e-05	3.01e-05	9.529e-06	5.088e-05	0.0005	2.282e-05	2.032e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0.0005	8.994e-07	0	0.0005	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.083	0.41405	T	0.026	0.19406	B	0.043	0.24256	B	.	.	.	.	0.999965	0.18878	N	1.14	0.29013	L	8.6	0.00167	T	-2.65	0.56787	D	0.064	0.03613	-1.0156	0.25143	T	0.000	0.00075	T	9	0.06820434	0.09614	T	0.00224	0.04260	T	0.121	0.33580	.	.	0.198222871337	0.19423	0.061372184983661905	0.06077	0.0735744681833	0.08248	0.210828796029	0.00847	T	0.127337	0.45430	T	-0.481859	0.00721	T	-0.613778	0.11680	T	0.0378802654947392	0.03311	T	0.0526947	0.00377	T	0.19022587	0.40599	0.25977045	0.51730	0.19022587	0.40599	0.25977045	0.51729	-4.898	0.35713	T	.	.	0.104	0.18663	B	.	.	1.645398	0.20997	15.00	0.892188539444569	0.18610	0.34505	0.25083	N	AEFBI	0.103202	0.20683	N	-0.56549770826768	0.20001	1.051115	-0.520047454503502	0.21610	1.169801	3.31485329803108E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	1.353000	0.33649	3.772000	0.39758	0.691000	0.84096	0.001000	0.13787	0.047000	0.21741	0.601000	0.31412	1.0:0.0:0.0:0.0	11.476	0.49544	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	3064.33	151	chr1	159535430	.	A	G	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=1442;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=-1.88;SOR=0.667	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1451	18	0	1	0
chr1	159713802	159713802	G	A	exonic	CRP	.	nonsynonymous SNV	CRP:NM_000567:exon2:c.C398T:p.P133L,CRP:NM_001329057:exon2:c.C398T:p.P133L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0217423197113	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs34200896	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.39	0.15506	T	0.998	0.73220	D	0.935	0.67021	D	0.062072	0.22124	N	0.472698	0.999993	0.08975	N	1.955	0.52871	M	0.61	0.53516	T	-9.42	0.98394	D	0.171	0.18239	-1.0610	0.11508	T	0.075	0.30242	T	10	0.35481068	0.52256	T	0.021742	0.44549	T	0.224	0.52174	0.574	0.69826	0.65220452611	0.64931	0.7589398457253043	0.75841	0.219023132142	0.24445	0.394662499428	0.24325	T	0.241935	0.61057	T	-0.203516	0.20299	T	-0.530113	0.19275	T	0.998506724834442	0.94337	D	0.819018	0.47665	T	0.46394026	0.64916	0.33837274	0.59616	0.46394026	0.64917	0.33837274	0.59615	-6.317	0.48856	T	.	.	0.303	0.53222	B	.	.	3.707142	0.52905	23.3	0.9867211487581109	0.44484	0.80560	0.40165	D	AEFDI	0.398553	0.47419	N	0.0403723573146546	0.43701	2.657903	-0.0445384242036294	0.37727	2.212929	6.35532909093921E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	3.78	0.42629	3.645000	0.54129	4.496000	0.43591	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.734000	0.35233	0.0975:0.1807:0.7217:0.0	6.733	0.22579	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2127.33	40	chr1	159713802	.	G	A	2127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.021;DP=810;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.905;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	18	0	1	0
chr1	159781359	159781359	C	G	exonic	DUSP23	.	nonsynonymous SNV	DUSP23:NM_001319658:exon1:c.C259G:p.R87G,DUSP23:NM_001319659:exon2:c.C259G:p.R87G,DUSP23:NM_017823:exon2:c.C259G:p.R87G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0169144413182	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs981446053	4.331e-05	4.378e-05	5.039e-05	3.594e-05	5.095e-05	3.411e-05	3.123e-05	3.99e-05	3.574e-05	3.339e-05	0	0	0	0	0	5.095e-05	7.103e-05	0	8.544e-05	8.537e-05	8.994e-05	8.073e-05	0.0002	4.958e-05	3.964e-05	0.0001	7.896e-05	0	0	0	0	0	9.414e-05	0	0.0002	0	0	0.022	0.48642	D	0.212	0.26549	T	0.01	0.15535	B	0.012	0.16012	B	0.067726	0.21720	N	0.487586	0.565055	0.32245	D	1.02	0.25474	L	1.97	0.22067	T	-2.86	0.60188	D	0.262	0.30687	-1.0159	0.25045	T	0.012	0.04558	T	10	0.15236923	0.28782	T	0.016914	0.38384	T	0.088	0.25558	0.485	0.56780	0.369309618794	0.36543	0.4496442432269852	0.44882	0.438513914143	0.43882	0.484825700521	0.36721	T	0.398236	0.75639	T	-0.279505	0.10720	T	-0.444295	0.28327	T	0.205047219991684	0.20691	T	0.666633	0.27564	T	0.50091726	0.67149	0.37219128	0.62432	0.50091726	0.67150	0.37219128	0.62432	-6.572	0.50839	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	3.433990	0.47740	22.5	0.97515357012615733	0.34373	0.87037	0.46459	D	AEFDBHCIJ	0.731970	0.67887	D	-0.533197576621178	0.21013	1.112072	-0.428109793924855	0.24177	1.322455	0.999985913032909	0.51787	0.652421	0.48094	0	0.748881	0.99253	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.95	3.07	0.34476	1.310000	0.33156	0.017000	0.13531	0.549000	0.26987	0.986000	0.36153	0.001000	0.17328	0.985000	0.61073	0.1884:0.7155:0.0:0.0961	5.949	0.18474	929	0.16858	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	33	chr1	159781359	.	C	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.611;SOR=0.667	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1244	18	0	1	0
chr1	159880699	159880699	T	A	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon8:c.A899T:p.D300V	.	.	.	.	.	.	.	.	0.0032	0.028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0190989500511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345696453	6.843e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.157	0.32675	T	0.984	0.60733	D	0.761	0.56482	P	0.044332	0.23649	N	0.483083	0.999961	0.52935	D	.	.	.	2.92	0.09915	T	-2.7	0.62863	D	0.394	0.43514	-1.0725	0.08873	T	0.025	0.10688	T	9	0.21636719	0.38217	T	0.019099	0.41369	T	0.103	0.29403	0.171	0.07655	0.404733080969	0.40085	0.5878401683062782	0.58714	0.489260562259	0.47694	0.348666071892	0.17725	T	0.028743	0.20752	T	-0.163247	0.26262	T	-0.472269	0.25272	T	0.65327787399292	0.38603	D	0.865113	0.56980	D	0.23655437	0.46507	0.20784019	0.45060	0.23655437	0.46507	0.20784019	0.45059	-9.145	0.73190	D	.	.	0.147	0.32348	B	.;.	.;.	3.213700	0.43755	21.8	0.86366289048173683	0.16487	0.79465	0.39382	D	AEFDBHCIJ	0.308617	0.41515	N	0.233403985978254	0.52824	3.454219	0.202970213260836	0.50013	3.197762	0.999999992747482	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.94	4.94	0.64645	2.494000	0.44988	6.067000	0.53222	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	12.550	0.55569	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr1	159880699	.	T	A	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.807;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.135;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1121	18	0	1	0
chr1	159927391	159927391	G	T	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon21:c.C3494A:p.A1165D,IGSF9:NM_020789:exon21:c.C3446A:p.A1149D	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00199681	0.0012	0.0001	0.0003	0.0001	0	3.107e-05	0	0.0082	0.0009896	153	154602	rs369321557	0.0005	0.0005	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.496e-06	0.0004	0.0084	0.0002	0.0002	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.008	0.58626	D	0.374	0.53788	T	0.38	0.34363	B	0.102	0.30857	B	0.736185	0.09814	N	0.839510	1	0.08975	N	0.55	0.14455	N	-0.23	0.66652	T	-0.94	0.25770	N	0.192	0.36148	-1.0586	0.12108	T	0.048	0.20355	T	9	0.0034614801	0.00061	T	.	.	.	0.042	0.11227	0.204	0.11936	0.311241185304	0.30733	0.602972607236629	0.60228	0.597040875348	0.54914	0.454618811607	0.32575	T	0.038927	0.25012	T	-0.441082	0.01274	T	-0.401373	0.33223	T	0.662330806255341	0.38998	D	0.713629	0.32527	T	0.17981353	0.39071	0.12325817	0.29723	0.17981353	0.39070	0.12325817	0.29722	-5.085	0.37748	T	.	.	0.251	0.48551	B	.;.;.	.;.;.	2.005590	0.25481	16.78	0.98614176194601022	0.43677	0.12443	0.17272	N	AEFDBI	0.172361	0.29938	N	-0.892451393769235	0.11021	0.5296624	-0.908041581136159	0.11904	0.6093048	0.999762064064855	0.42728	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.41	-2.12	0.06766	-0.028000	0.12299	1.716000	0.28228	0.667000	0.69007	0.007000	0.17678	0.749000	0.26537	0.907000	0.44265	0.4892:0.1365:0.3743:0.0	5.881	0.18101	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	448.33	40	chr1	159927391	.	G	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.97;SOR=0.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr1	159928983	159928983	G	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon19:c.C2405T:p.A802V,IGSF9:NM_020789:exon19:c.C2357T:p.A786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0153512286331	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757839323	2.196e-06	4.788e-06	0	4.481e-06	7.797e-05	5.9e-07	1.6e-07	2.067e-05	1.073e-05	0	0	0	7.797e-05	0	0	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	1.0	0.01954	T	0.344	0.17804	T	0.001	0.07471	B	0.001	0.04355	B	0.722749	0.09921	N	0.820858	0.999324	0.21358	N	0.975	0.24501	L	-0.03	0.63077	T	0.19	0.04947	N	0.034	0.00942	-0.9826	0.34398	T	0.028	0.11795	T	9	0.024261355	0.00661	T	0.015351	0.36031	T	0.022	0.04323	0.166	0.07071	0.179529687257	0.17594	0.24269001128756612	0.24183	0.249200713937	0.27491	0.459253311157	0.33207	T	0.022293	0.17210	T	-0.295751	0.09066	T	-0.662602	0.08092	T	0.0561301745474339	0.06546	T	0.69773	0.32735	T	0.031275	0.02939	0.043288086	0.05352	0.031275	0.02939	0.043288086	0.05352	-4.338	0.31356	T	.	.	0.135	0.29394	B	.;.	.;.	1.006884	0.13856	10.41	0.74749627592371604	0.10813	0.06602	0.12617	N	AEFDBCI	0.066476	0.13019	N	-0.96381084319417	0.09385	0.44395	-0.817443594508986	0.14073	0.7334436	0.999958314652282	0.48110	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.15	0.568	0.16518	0.214000	0.17331	1.271000	0.25291	-0.122000	0.13826	0.000000	0.06391	0.999000	0.35428	0.989000	0.64315	0.5657:0.0:0.4343:0.0	6.703	0.22425	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1536.33	37	chr1	159928983	.	G	A	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=813;ExcessHet=0;FS=2.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-2.601;SOR=1.008	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	159934568	159934568	C	T	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon8:c.G818A:p.R273H,IGSF9:NM_020789:exon8:c.G818A:p.R273H	.	423	1095	3	0	1	4	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0096617358104	0.0006	0.000199681	0.0006	0.0001	0.0004	0	0	0.0010	0.0035	6.134e-05	0.0006145	95	154602	rs137951399	0.0008	0.0008	0.0008	0.0007	0.0036	0.0007	0.0007	0.0024	0.0021	0.0002	0.0003	3.831e-05	0	7.502e-05	0.0036	0.0009	0.0005	9.279e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0003	0	0	9.409e-05	0.0034	0.0008	0.0005	0	0.321	0.13522	T	0.273	0.32783	T	0.004	0.12183	B	0.007	0.12992	B	0.000705	0.42254	D	0.000000	0.624926	0.30748	N	0.79	0.19579	N	2.7	0.12162	T	0.26	0.04533	N	0.107	0.12055	-0.9955	0.31164	T	0.012	0.04653	T	9	0.025695622	0.00756	T	0.009662	0.25245	T	0.057	0.16321	.	.	0.117191471859	0.11215	0.3376316955010554	0.33676	0.311095576555	0.33413	0.36288946867	0.19806	T	0.031584	0.22107	T	-0.582003	0.00187	T	-0.665132	0.07924	T	0.0147209651291656	0.00307	T	0.789521	0.49719	T	0.015983673	0.00169	0.026964914	0.00817	0.015983673	0.00169	0.026964914	0.00817	-4.424	0.29880	T	.	.	0.069	0.03266	B	.;.;.	.;.;.	1.778642	0.22614	15.69	0.9914885823323214	0.53765	0.53259	0.29328	D	AEFDGBCI	0.165173	0.29164	N	-0.290087326524538	0.29529	1.638418	-0.181907449651757	0.32201	1.829705	0.999922335916344	0.46280	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	4.52	3.6	0.40374	-0.235000	0.09031	1.403000	0.26213	-0.242000	0.07441	0.210000	0.24424	1.000000	0.68203	0.464000	0.28207	0.0:0.9048:0.0:0.0952	10.643	0.44796	873	0.30802	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	3313.85	36	chr1	159934568	.	C	T	3313.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=848;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.599;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	18	0	1	0
chr1	159934568	159934568	C	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon8:c.G818T:p.R273L,IGSF9:NM_020789:exon8:c.G818T:p.R273L	.	423	1095	3	0	1	4	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0207728622629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137951399	6.843e-07	1.368e-06	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.14207	T	0.1	0.61642	T	0.237	0.30795	B	0.206	0.37138	B	0.000705	0.42254	D	0.000000	0.574276	0.32320	D	0.32	0.10341	N	2.81	0.10975	T	-2.08	0.47514	N	0.391	0.44570	-0.9820	0.34538	T	0.014	0.05369	T	9	0.23336604	0.40353	T	0.020773	0.43429	T	0.117	0.32689	0.579	0.70476	0.202312658747	0.19855	0.5033262005801297	0.50254	0.399866162453	0.40999	0.380225300789	0.22289	T	0.082684	0.36884	T	-0.177509	0.24106	T	-0.492756	0.23103	T	0.44573113322258	0.30640	T	0.827517	0.57032	T	0.050089817	0.08995	0.07139663	0.15284	0.050089817	0.08994	0.07139663	0.15284	-9.097	0.71219	D	.	.	0.158	0.34906	B	.;.;.	.;.;.	2.378870	0.30534	18.47	0.979522565994836	0.37114	0.65564	0.32780	D	AEFDGBCI	0.281882	0.39535	N	-0.0909316962511451	0.37790	2.203672	-0.040122318903337	0.37920	2.226923	0.999922335916344	0.46280	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	4.52	3.6	0.40374	-0.235000	0.09031	1.403000	0.26213	-0.242000	0.07441	0.210000	0.24424	1.000000	0.68203	0.464000	0.28207	0.0:0.9048:0.0:0.0952	10.643	0.44796	873	0.30802	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3313.85	36	chr1	159934568	.	C	A	3313.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=848;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.599;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	18	0	1	0
chr1	160190977	160190977	G	A	exonic	CASQ1	.	nonsynonymous SNV	CASQ1:NM_001231:exon1:c.G226A:p.E76K	Myopathy, vacuolar, with CASQ1 aggregates, Autosomal dominant	421	1100	1	0	0	1	0.000454339	.	.	.	731798	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.00729738340071	0.0011	0.00139776	0.0009	0.0027	0.0005	0	0.0002	0.0009	0.0011	0.0002	0.0007891	122	154602	rs79469730	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0006	0.0024	0.0022	0.0029	0.0006	0	5.038e-05	0.0003	0.0010	0.0007	0.0008	0.0004	0.0012	0.0012	0.0013	0.0011	0.0025	0.0010	0.0010	0.0021	0.0020	0.0025	0	0.0012	0	0	0.0002	0.0068	0.0007	0.0014	0.0006	0.477	0.08310	T	0.922	0.02855	T	0.262	0.31549	B	0.024	0.20255	B	0.000095	0.51296	D	0.128784	0.564408	0.35277	D	1.355	0.33814	L	1.17	0.37910	T	-0.47	0.15178	N	0.369	0.41063	-1.0993	0.04177	T	0.027	0.11663	T	10	0.0074266493	0.00169	T	0.007297	0.19361	T	0.124	0.34239	.	.	0.411265580357	0.40742	0.49338960049485386	0.49259	0.137146261983	0.15466	0.565878152847	0.48096	T	0.195478	0.55157	T	-0.474203	0.00801	T	-0.458552	0.26757	T	0.0295635563837358	0.01922	T	0.742326	0.36163	T	0.36788386	0.58428	0.2674944	0.52608	0.36788386	0.58429	0.2674944	0.52607	-4.198	0.26722	T	0.0978891860498626	0.06939	0.084	0.09481	B	.	.	3.037848	0.40717	21.2	0.98742613348543662	0.45527	0.25244	0.22640	N	AEFDBHI	0.289116	0.40084	N	-0.454425369089192	0.23591	1.267892	-0.349888773518442	0.26512	1.465	0.990704207255188	0.32242	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.584449	0.35598	0	.	.	4.21	4.21	0.48984	1.862000	0.39088	7.564000	0.60548	0.676000	0.76740	0.193000	0.24225	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	15.576	0.76135	358	0.85037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.020202	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1355.33	34	chr1	160190977	.	G	A	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.978;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr1	160523176	160523176	T	C	exonic	SLAMF6	.	nonsynonymous SNV	SLAMF6:NM_001184714:exon1:c.A17G:p.Q6R,SLAMF6:NM_001184715:exon1:c.A17G:p.Q6R,SLAMF6:NM_001184716:exon1:c.A17G:p.Q6R,SLAMF6:NM_052931:exon1:c.A17G:p.Q6R	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00201945090868	0.0004	0.000798722	0.0007	9.649e-05	0.0046	0	0	0.0004	0.0011	0.0005	0.0006015	93	154602	rs140530109	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	2.989e-05	0.0022	0.0010	0	0	0.0050	8.095e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0	0	0.0008	0.0023	0	0	0.0068	0.0001	0.0024	0.0006	0.596	0.05703	T	0.407	0.14865	T	0.022	0.18677	B	0.006	0.12133	B	0.030752	0.01725	N	3.119770	1	0.08975	N	1.79	0.46772	L	2.93	0.26301	T	-1.21	0.30762	N	0.251	0.31478	-1.0107	0.26698	T	0.013	0.05321	T	10	0.005907595	0.00132	T	0.002019	0.03668	T	0.081	0.23632	.	.	0.136095386433	0.13204	0.40826864688266606	0.40742	0.71948820848	0.62137	0.290410459042	0.08982	T	0.171979	0.52030	T	-0.636821	0.00087	T	-0.69479	0.06115	T	0.0105587195199704	0.00147	T	0.39616	0.10162	T	0.032664165	0.03334	0.031163974	0.01668	0.032664165	0.03333	0.031163974	0.01668	-3.902	0.22768	T	.	.	0.116	0.34227	B	.;.;.	.;.;.	-1.044432	0.00710	0.021	0.3411424737014716	0.02069	0.03760	0.09070	N	ALL	0.038088	0.05339	N	-1.81648961690406	0.00506	0.02177831	-1.95695474069501	0.00376	0.01662464	0.999999999999986	0.74766	0.487112	0.14033	0	0.504199	0.08210	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.14	-6.27	0.01850	-1.032000	0.03685	-4.687000	0.02033	-0.797000	0.03199	0.001000	0.13787	0.000000	0.08366	0.026000	0.12556	0.3932:0.103:0.334:0.1699	1.615	0.02538	817	0.41665	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1426.33	34	chr1	160523176	.	T	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.755;DP=751;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.667;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	160553453	160553453	C	T	exonic	CD84	.	nonsynonymous SNV	CD84:NM_001184882:exon3:c.G343A:p.V115M,CD84:NM_001184879:exon4:c.G685A:p.V229M,CD84:NM_001184881:exon4:c.G685A:p.V229M,CD84:NM_001330742:exon4:c.G685A:p.V229M,CD84:NM_003874:exon4:c.G685A:p.V229M	.	.	.	.	.	.	.	.	.	.	.	2394615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00711300343291	0.0002	0.000399361	0.0004	0.0002	0.0006	0	0	0.0004	0	0.0006	0.0003493	54	154602	rs201878319	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0045	0.0006	0.0007	3.826e-05	7.557e-05	0.0001	0.0068	0.0003	0.0007	0.0004	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0003	0.0003	0.0002	0	0.0005	0	0	0	0.0170	0.0004	0.0014	0.0008	0.071	0.36310	T	0.179	0.44302	T	0.994	0.73220	D	0.669	0.56161	P	0.004029	0.01000	N	3.242640	1	0.08975	N	1.245	0.31408	L	1.12	0.38718	T	-0.47	0.16187	N	0.29	0.32812	-1.0842	0.06553	T	0.059	0.24908	T	10	0.06567258	0.08895	T	0.007113	0.18841	T	0.073	0.21317	.	.	0.248417906384	0.24464	0.20674412726661243	0.20590	0.385102580598	0.39804	0.297889351845	0.10088	T	0.139816	0.47403	T	-0.525005	0.00411	T	-0.627747	0.10586	T	0.0220662174145602	0.00916	T	0.738626	0.36121	T	0.024165688	0.01222	0.039502904	0.04059	0.024165688	0.01222	0.039502904	0.04059	-5.368	0.45630	T	.	.	0.091	0.23290	B	.;.;.;.;.	.;.;.;.;.	2.222858	0.28372	17.77	0.99408236674645212	0.63169	0.08415	0.14347	N	AEFBI	0.066530	0.13034	N	-0.546884961705528	0.20580	1.086024	-0.705894362506637	0.16814	0.8912338	0.993605393321828	0.33282	0.489673	0.17934	0	0.71359	0.82159	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	1.78	0.23918	1.453000	0.34778	0.867000	0.22280	-0.225000	0.07834	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.0:0.6224:0.1814:0.1962	4.665	0.12046	818	0.41518	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004032	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	1279.33	36	chr1	160553453	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=716;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.307;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1279	18	0	1	0
chr1	160750053	160750053	A	C	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon2:c.A288C:p.R96S,SLAMF7:NM_001282591:exon2:c.A288C:p.R96S,SLAMF7:NM_001282593:exon2:c.A288C:p.R96S,SLAMF7:NM_001282594:exon2:c.A288C:p.R96S,SLAMF7:NM_001282595:exon2:c.A207C:p.R69S,SLAMF7:NM_001282596:exon2:c.A288C:p.R96S,SLAMF7:NM_001282592:exon3:c.A609C:p.R203S,SLAMF7:NM_021181:exon3:c.A609C:p.R203S	.	423	1030	67	2	0	71	0.0333177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0036	0.023762	0.0155	0.0039	0.0080	0.0487	0.0168	0.0050	0.0165	0.0527	0.0139325	2154	154602	rs117009784	0.0082	0.0082	0.0068	0.0096	0.0536	0.0081	0.0080	0.0517	0.0511	0.0036	0.0084	0.0132	0.0536	0.0172	0.0290	0.0025	0.0097	0.0529	0.0085	0.0085	0.0070	0.0101	0.0531	0.0081	0.0080	0.0478	0.0457	0.0043	0.0033	0.0095	0.0144	0.0440	0.0163	0.0204	0.0035	0.0076	0.0531	0.823	0.04742	T	0.817	0.03863	T	0.0	0.02946	B	0.0	0.01387	B	0.167060	0.17487	N	0.602456	1	0.19486	N	-2.74	0.00028	N	2.19	0.18724	T	1.94	0.00756	N	0.21	0.23380	-0.9467	0.41532	T	0.003	0.00929	T	10	0.0028574467	0.00046	T	.	.	.	0.031	0.07369	0.566	0.68768	.	.	0.324813258575712	0.32394	0.178383138958	0.20072	0.290989935398	0.09067	T	0.002644	0.43587	T	-0.722179	0.00027	T	-0.768401	0.02821	T	0.00331738300803551	0.00035	T	0.0486951	0.00347	T	0.07594362	0.17144	0.04246686	0.05065	0.07594362	0.17144	0.04246686	0.05065	-0.005	0.00951	T	.	.	0.061	0.11845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.793615	0.11639	8.226	0.29561523863360645	0.01574	0.00351	0.01809	N	AEFDGBHCI	0.043334	0.06838	N	-1.47543214926929	0.02024	0.08897147	-1.36352818858422	0.03648	0.1706476	0.999999749278389	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	1.17	0.19998	-0.015000	0.12572	0.912000	0.22635	-0.175000	0.10903	0.169000	0.23921	0.753000	0.26565	0.220000	0.22462	0.314:0.4287:0.0:0.2573	3.261	0.06445	799	0.44747	Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;.	.	.	.	.	rs117009784	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.000000	0.014946	0.026316	0.050000	0.017241	0.024390	0.037879	0.02632	1228.33	33	chr1	160750053	.	A	C	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=689;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=1.5;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	18	0	1	0
chr1	160816780	160816780	A	C	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon5:c.A1259C:p.E420A,LY9:NM_002348:exon5:c.A1259C:p.E420A	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0054935806873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.012	0.63918	D	0.998	0.77913	D	0.995	0.86255	D	.	.	.	.	0.987792	0.40651	D	2.025	0.55430	M	4.0	0.03239	T	-1.59	0.38345	N	0.144	0.14480	-1.0534	0.13466	T	0.020	0.08407	T	9	0.22380531	0.39167	T	0.005494	0.14136	T	0.106	0.30130	0.294	0.25720	0.647971874355	0.64505	0.4115045507898198	0.41066	0.272651859333	0.29769	0.273019611835	0.06538	T	0.151035	0.49079	T	-0.226253	0.17148	T	-0.562773	0.16117	T	0.459730863571167	0.31155	T	0.642936	0.25461	T	0.110577494	0.26136	0.09513461	0.22550	0.110577494	0.26135	0.09513461	0.22550	-5.512	0.41980	T	.	.	0.217	0.44630	B	.;.	.;.	2.089809	0.26587	17.17	0.99205080592860095	0.55412	0.06217	0.12204	N	AEFBI	0.045198	0.07365	N	0.0192521954964807	0.42730	2.580	-0.175275204181844	0.32448	1.846182	0.986118735050865	0.31006	0.638212	0.43195	0	0.670034	0.63936	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	1.070000	0.30265	1.189000	0.24752	0.641000	0.52212	0.026000	0.20160	0.010000	0.20010	0.141000	0.19983	1.0:0.0:0.0:0.0	10.832	0.45871	789	0.46346	.;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2488.33	218	chr1	160816780	.	A	C	2488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=852;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.166;SOR=0.81	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1285	18	0	1	0
chr1	160876668	160876668	C	G	exonic	ITLN1	.	nonsynonymous SNV	ITLN1:NM_017625:exon8:c.G938C:p.R313P	.	432	1087	3	0	0	3	0.00137804	.	.	.	731817	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00676300800131	0.0041	0.00219649	0.0039	0.0008	0.0009	0.0001	0.0067	0.0058	0.0022	0.0013	0.0039003	603	154602	rs8144	0.0040	0.0040	0.0041	0.0038	0.0046	0.0039	0.0039	0.0045	0.0044	0.0006	0.0012	3.827e-05	0	0.0054	0.0014	0.0046	0.0034	0.0016	0.0031	0.0031	0.0032	0.0029	0.0051	0.0028	0.0027	0.0047	0.0045	0.0008	0.0055	0.0016	0	0	0.0043	0	0.0051	0.0024	0.0012	0.002	0.72154	D	0.0	0.92824	D	0.984	0.60733	D	0.956	0.69739	D	0.472297	0.12263	U	0.573394	1	0.08975	N	3.2	0.89116	M	1.31	0.35405	T	-5.97	0.89272	D	0.426	0.46555	-0.8509	0.51905	T	0.162	0.49731	T	10	0.013568729	0.00287	T	0.006763	0.17868	T	0.115	0.32236	.	.	0.229924730088	0.22615	0.9071364199711618	0.90686	0.595635122751	0.54831	0.22680285573	0.01740	T	0.603778	0.87340	D	-0.442375	0.01252	T	-0.40505	0.32797	T	0.0920702545526738	0.11461	T	0.940606	0.77652	D	0.76805305	0.81931	0.63672584	0.78789	0.76805305	0.81933	0.63672584	0.78789	-12.308	0.86319	D	.	.	0.833	0.78867	P	.	.	1.314474	0.17179	13.01	0.87438585777774325	0.17228	0.02814	0.07545	N	AEFDBI	0.235142	0.35779	N	-0.748961719611894	0.14662	0.7322402	-1.08199861253516	0.08054	0.3943942	0.998051457581494	0.36367	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.17	-3.14	0.04928	-0.642000	0.05524	-4.920000	0.01926	-1.051000	0.01640	0.017000	0.19353	0.000000	0.08366	0.692000	0.33898	0.0:0.481:0.0:0.519	11.037	0.47021	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	985.33	36	chr1	160876668	.	C	G	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=685;ExcessHet=0;FS=3.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.249;SOR=1.209	GT:AD:DP:GQ:PL	0/1:26,36:62:99:999,0,608	18	0	1	0
chr1	160951056	160951056	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G428A:p.S143N	.	.	.	.	.	.	.	.	.	.	.	2355776	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0138581911057	0.0010	.	0.0006	9.61e-05	0.0003	0	0	0.0010	0	0	0.0006468	100	154602	rs147123034	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	8.961e-05	0.0002	0	0	0.0003	0	0.0017	0.0011	0	0.0009	0.0009	0.0011	0.0008	0.0018	0.0008	0.0007	0.0016	0.0015	0.0003	0	0.0002	0	0	0	0	0.0018	0.0005	0	0.127	0.27080	T	0.162	0.31225	T	0.076	0.24253	B	0.049	0.25116	B	0.000005	0.62929	U	0.000000	0.72672	0.29869	N	2.12	0.58754	M	2.02	0.21119	T	-1.56	0.37759	N	0.314	0.35408	-1.0864	0.06155	T	0.037	0.16160	T	10	0.02404958	0.00649	T	0.013858	0.33577	T	0.079	0.23065	.	.	0.261217442401	0.25729	0.24266874881035477	0.24180	0.253798245579	0.27947	0.51683139801	0.41181	T	0.035435	0.23719	T	-0.557585	0.00262	T	-0.614242	0.11642	T	0.0459300362932537	0.04771	T	0.831917	0.49916	T	0.21740143	0.44222	0.18380553	0.41393	0.21740143	0.44222	0.18380553	0.41392	-6.106	0.47158	T	.	.	0.254	0.48827	B	.	.	1.865298	0.23694	16.12	0.97119082174794713	0.32447	0.19180	0.20559	N	AEFDGBI	0.179788	0.30708	N	-0.299820106616839	0.29156	1.614339	-0.338107943162816	0.26879	1.487622	0.999734210256563	0.42341	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	1.409000	0.34288	1.456000	0.26643	0.465000	0.21702	0.038000	0.20882	0.011000	0.20116	0.012000	0.09680	0.0:1.0:0.0:0.0	13.825	0.62839	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2828.33	47	chr1	160951056	.	C	T	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=2535;ExcessHet=0;FS=3.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-1.073;QD=10.96;ReadPosRankSum=-0.7;SOR=0.913	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:187,45:237:99:193,0,4385	7	0	12	0
chr1	161074349	161074349	T	A	exonic	NECTIN4	.	nonsynonymous SNV	NECTIN4:NM_030916:exon6:c.A1025T:p.Q342L	Ectodermal dysplasia-syndactyly syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0234997288902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.149	0.32568	T	0.011	0.15914	B	0.01	0.14941	B	0.325115	0.14206	N	0.622655	0.643317	0.31572	N	.	.	.	1.14	0.38397	T	-2.1	0.47852	N	0.343	0.38438	-1.0215	0.23227	T	0.019	0.07893	T	10	0.14189649	0.26957	T	0.024	0.46463	T	0.035	0.08770	0.338	0.32816	0.50466331119	0.50103	0.4609312171806985	0.46011	0.483913800364	0.47323	0.407595574856	0.26123	T	0.011471	0.10227	T	-0.195286	0.21487	T	-0.518291	0.20469	T	0.155314415550279	0.17519	T	0.747125	0.36767	T	0.11654812	0.27487	0.081719846	0.18595	0.11654812	0.27487	0.081719846	0.18594	-4.191	0.26621	T	0.3203630950212392	0.41848	0.133	0.28693	B	.	.	2.832759	0.37348	20.5	0.97834243423398459	0.36285	0.75611	0.37029	D	AEFBCI	0.300509	0.40928	N	-0.398326017109196	0.25529	1.386469	-0.195085953234825	0.31717	1.797577	0.999955044946054	0.48110	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.79	3.57	0.40014	1.149000	0.31238	1.688000	0.28053	0.651000	0.53179	0.995000	0.38783	0.999000	0.35428	0.991000	0.66497	0.0:0.0:0.2057:0.7943	8.065	0.29818	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	896.33	34	chr1	161074349	.	T	A	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=707;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.86;SOR=0.928	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1295	18	0	1	0
chr1	161074719	161074719	C	T	exonic	NECTIN4	.	nonsynonymous SNV	NECTIN4:NM_030916:exon5:c.G892A:p.D298N	Ectodermal dysplasia-syndactyly syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0335089076576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.337127	0.14021	N	0.678066	0.571	0.31178	N	.	.	.	-0.85	0.74371	T	2.38	0.00266	N	0.192	0.21056	-1.1021	0.03846	T	0.061	0.25455	T	10	0.18218717	0.33486	T	0.033509	0.55030	D	0.084	0.24469	0.739	0.87147	0.857085195221	0.85570	0.43484219895547804	0.43401	0.477262670099	0.46840	0.406628131866	0.25991	T	0.006716	0.06148	T	-0.213612	0.18874	T	-0.544615	0.17846	T	0.112514942884445	0.13682	T	0.80082	0.44648	T	0.096113175	0.22634	0.069649875	0.14701	0.096113175	0.22633	0.069649875	0.14700	-4.475	0.30560	T	0.1410798179061266	0.15841	0.076	0.05979	B	.	.	2.733719	0.35793	19.99	0.6661408548119373	0.08110	0.50603	0.28701	D	AEFDGBHCI	0.236262	0.35874	N	-0.633538700653549	0.17943	0.927629	-0.444171091138558	0.23714	1.294713	0.999999999999985	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.84	3.93	0.44666	2.139000	0.41773	5.906000	0.50954	0.587000	0.30956	0.994000	0.38300	1.000000	0.68203	0.024000	0.12247	0.0:0.899:0.0:0.101	8.864	0.34432	312	0.87382	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2390.33	34	chr1	161074719	.	C	T	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.458;SOR=0.701	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1295	18	0	1	0
chr1	161098638	161098638	G	A	exonic	KLHDC9	.	nonsynonymous SNV	KLHDC9:NM_001007255:exon1:c.G103A:p.E35K,KLHDC9:NM_152366:exon1:c.G103A:p.E35K	.	416	1087	17	2	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0008	0.00399361	0.0046	0.0009	0.0040	0.0005	0	0.0018	0.0081	0.0201	0.002749	425	154602	rs138686208	0.0017	0.0017	0.0013	0.0022	0.0149	0.0017	0.0016	0.0142	0.0140	0.0003	0.0021	0.0043	0.0013	0	0.0123	0.0007	0.0025	0.0149	0.0013	0.0013	0.0010	0.0016	0.0145	0.0011	0.0011	0.0118	0.0108	0.0003	0	0.0020	0.0052	0.0002	0	0.0102	0.0007	0.0033	0.0145	0.407	0.10245	T	0.287	0.22359	T	0.974	0.58310	D	0.414	0.44992	B	0.021837	0.26754	N	0.250565	0.556283	0.32175	D	2.2	0.62015	M	-0.75	0.73311	T	-0.42	0.15379	N	0.517	0.56145	-0.8710	0.50454	T	0.157	0.48993	T	10	0.008104086	0.00184	T	.	.	.	0.294	0.61388	.	.	0.265929055128	0.26215	0.7810967653960785	0.78060	0.898651035483	0.70561	0.87642711401	0.93474	D	0.002621	0.02014	T	-0.302644	0.08411	T	-0.19518	0.55102	T	0.0268339709310298	0.01521	T	0.80002	0.44558	T	0.6073222	0.73084	0.5177215	0.72135	0.6073222	0.73086	0.5177215	0.72135	-7.537	0.65955	D	.	.	0.219	0.50979	B	.;.	.;.	5.029439	0.83645	28.1	0.99476158142093163	0.66633	0.73256	0.35836	D	AEFDGBCI	0.412607	0.48261	N	0.206002313625114	0.51488	3.329773	0.251847357089408	0.52754	3.448195	0.999999999999594	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.99	3.99	0.45527	5.404000	0.66088	9.559000	0.80991	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	13.971	0.63755	279	0.89001	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016667	0.025510	0.023098	0.014620	0.000000	0.000000	0.006135	0.018939	0.02632	1871.33	36	chr1	161098638	.	G	A	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=751;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=2.35;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr1	161193374	161193374	C	T	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon7:c.G1750A:p.E584K,ADAMTS4:NM_005099:exon7:c.G1750A:p.E584K	.	.	.	.	.	.	.	.	.	.	.	2760980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.436	0.0581364384425	.	.	8.294e-06	9.634e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746213424	1.3e-05	1.3e-05	1.634e-05	9.629e-06	0.0002	8.32e-06	6.7e-06	9.89e-06	5.03e-06	5.974e-05	2.237e-05	0	2.519e-05	0	0.0002	1.169e-05	0	1.159e-05	3.946e-05	3.941e-05	6.428e-05	1.346e-05	0.0001	1.717e-05	1.13e-05	6.289e-05	4.303e-05	0.0001	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.024	0.56640	D	0.999	0.77913	D	0.941	0.67658	D	0.000008	0.62929	D	0.000000	0.999992	0.58761	D	2.57	0.75187	M	-0.02	0.62918	T	-3.34	0.66325	D	0.718	0.72031	-0.2034	0.77583	T	0.381	0.73788	T	10	0.83827305	0.82982	D	0.058136	0.67212	D	0.436	0.74093	0.562	0.68229	0.865272772419	0.86396	0.7150372232438647	0.71446	0.963226809832	0.73075	0.71559047699	0.69404	T	0.46739	0.80174	T	0.107589	0.65102	D	0.0982952	0.76795	D	0.985471487045288	0.76457	D	0.89781	0.64256	D	0.4757519	0.65642	0.41198987	0.65415	0.4757519	0.65643	0.41198987	0.65415	-8.264	0.62855	D	.	.	0.329	0.55173	B	.	.	5.323241	0.89347	30	0.99908469105494646	0.97875	0.98133	0.79881	D	AEFGBI	0.838728	0.75621	D	0.735379367458963	0.81951	7.643879	0.681266355617651	0.80957	7.416029	0.999999999999993	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.688494	0.62686	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	6.124000	0.71349	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	16.810	0.85579	431	0.80762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	33	chr1	161193374	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.558;DP=1286;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.936;SOR=0.767	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	18	0	1	0
chr1	161525116	161525116	A	G	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.A458G:p.N153S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0022	0.0125799	0.0027	0.0308	0.0014	0	0	0.0002	0	0	0.0027663	72	26028	rs10919225	0.0008	0.0009	0.0010	0.0007	0.0270	0.0008	0.0008	0.0256	0.0250	0.0270	0.0023	0	2.519e-05	0	0.0023	4.677e-05	0.0020	2.319e-05	0.0095	0.0097	0.0093	0.0096	0.0321	0.0091	0.0089	0.0306	0.0301	0.0321	0	0.0054	0	0	0	0.0034	0.0001	0.0076	0.0002	0.001	0.78490	D	0.014	0.62352	D	0.895	0.49247	P	0.338	0.42306	B	0.006388	0.32067	N	0.138660	0.885888	0.35847	D	2.47	0.71715	M	3.73	0.03982	T	-4.02	0.74269	D	0.378	0.41952	-1.0741	0.08535	T	0.012	0.04747	T	10	0.0051600933	0.00112	T	.	.	.	0.123	0.34020	.	.	0.278968121808	0.27521	0.09115188175815238	0.09048	.	.	0.580908834934	0.50214	T	0.025269	0.18927	T	-0.580823	0.00190	T	-0.583404	0.14242	T	0.116226948631499	0.14056	T	0.931207	0.74412	D	0.40557456	0.61117	0.304838	0.56512	0.40557456	0.61117	0.304838	0.56511	-9.022	0.67839	D	.	.	0.077	0.06479	B	.	.	2.528158	0.32681	19.12	0.96885567310417986	0.31477	0.77134	0.37892	D	AEFDBHI	0.278578	0.39283	N	-0.216714660441085	0.32448	1.830027	-0.410398859946899	0.24692	1.353579	0.99976283890811	0.42728	0.493124	0.18060	0	0.587265	0.34161	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	3.43	-0.293	0.12200	3.488000	0.52993	1.588000	0.27514	-0.146000	0.12295	1.000000	0.71638	0.257000	0.23957	0.244000	0.23106	0.6573:0.0:0.3427:0.0	6.625	0.22016	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004032	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2033.33	34	chr1	161525116	.	A	G	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=808;ExcessHet=0;FS=8.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=-4.568;QD=12.95;ReadPosRankSum=1.33;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	18	0	1	0
chr1	161525118	161525118	G	A	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G460A:p.D154N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0026	0.0125799	0.0027	0.0308	0.0014	0	0	0.0002	0	0	0.0027663	72	26028	rs10919226	0.0008	0.0009	0.0009	0.0007	0.0263	0.0008	0.0007	0.0249	0.0243	0.0263	0.0023	0	5.038e-05	0	0.0023	4.407e-05	0.0019	2.319e-05	0.0095	0.0097	0.0094	0.0096	0.0321	0.0091	0.0089	0.0307	0.0301	0.0321	0	0.0054	0	0	0	0.0034	0.0001	0.0076	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.954	0.54400	P	0.905	0.64260	P	0.000349	0.45440	U	0.000000	0.999976	0.53665	D	3.155	0.88459	M	4.73	0.01620	T	-4.05	0.74504	D	0.754	0.75283	-1.1500	0.01025	T	0.017	0.06998	T	10	0.008898795	0.00202	T	.	.	.	0.205	0.49236	.	.	0.36256342048	0.35873	0.14002850549049767	0.13925	.	.	0.703628182411	0.67670	T	0.029925	0.21330	T	-0.534961	0.00359	T	-0.517526	0.20546	T	0.0484767112377531	0.05228	T	0.970703	0.89491	D	0.66561884	0.76199	0.567717	0.74975	0.66561884	0.76200	0.567717	0.74976	-9.286	0.69519	D	.	.	0.525	0.65714	A	.	.	3.666878	0.52120	23.2	0.99813305051550061	0.89708	0.95222	0.63891	D	AEFDBHI	0.789701	0.71881	D	0.443379427600195	0.63830	4.624	0.245437203766425	0.52389	3.414144	0.999999999933495	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	3.43	3.43	0.38372	6.759000	0.74730	6.768000	0.56553	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:1.0:0.0	12.383	0.54647	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2033.33	34	chr1	161525118	.	G	A	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=805;ExcessHet=0;FS=8.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.14;MQRankSum=-4.568;QD=12.95;ReadPosRankSum=1.49;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	18	0	1	0
chr1	161525238	161525238	G	A	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G580A:p.E194K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00415609767531	.	.	0.0002	9.913e-05	8.663e-05	0.0002	0.0011	0.0002	0	0.0001	0.000461	12	26028	rs41297714	9.312e-05	0.0003	8.857e-05	9.772e-05	0.0004	8.033e-05	7.525e-05	0.0003	0.0002	8.961e-05	4.474e-05	0	0.0004	0.0005	0	6.21e-05	1.657e-05	0.0002	0.0001	0.0002	2.573e-05	0.0002	0.0002	6.516e-05	5.327e-05	2.26e-05	9.07e-06	0	0	0.0001	0	0.0002	0.0009	0	4.412e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.469	0.36524	P	0.394	0.44277	B	0.000545	0.43413	U	0.000000	0.999055	0.45965	D	3.445	0.92174	M	2.82	0.10871	T	-3.12	0.63782	D	0.403	0.44379	-1.1459	0.01153	T	0.039	0.16634	T	10	0.11169535	0.20924	T	0.004156	0.09963	T	0.155	0.40530	.	.	0.491112125781	0.48745	0.16582593583199207	0.16502	.	.	0.690599739552	0.65793	T	0.019564	0.15561	T	-0.301708	0.08499	T	-0.379011	0.35840	T	0.555747270584106	0.34694	D	0.847115	0.52772	T	0.78781104	0.83137	0.5543965	0.74228	0.78781104	0.83138	0.5543965	0.74229	-12.286	0.86216	D	.	.	0.323	0.54754	B	.	.	2.337496	0.29950	18.29	0.99839552832052192	0.92057	0.94583	0.61639	D	AEFDBI	0.669447	0.63687	D	-0.0316419242072472	0.40426	2.400555	-0.17917131774579	0.32302	1.836495	0.999998829585728	0.74766	0.495885	0.18260	0	0.435331	0.06439	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	2.93	1.99	0.25423	4.628000	0.60981	3.288000	0.37283	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.2149:0.7851:0.0	9.659	0.39107	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1474.33	34	chr1	161525238	.	G	A	1474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.075;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.27;MQRankSum=-4.981;QD=14.31;ReadPosRankSum=-0.505;SOR=0.653	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr1	161525485	161525485	T	C	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.T827C:p.L276P	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.00588033807086	.	.	0.0008	0.0003	0.0014	0.0059	0	0.0001	0.0012	0.0013	0.0003842	10	26028	rs200790521	0.0002	0.0040	0.0002	0.0002	0.0061	0.0002	0.0002	0.0054	0.0051	0.0002	0.0005	7.681e-05	0.0061	0	0.0002	7.019e-05	0.0002	0.0003	0.0021	0.0088	0.0018	0.0024	0.0339	0.0019	0.0018	0.0291	0.0273	0.0021	0	0.0026	0.0006	0.0339	0.0006	0	0.0003	0.0010	0.0068	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.008619	0.30756	U	0.000000	1	0.81001	D	5.29	0.99973	H	4.41	0.02196	T	-5.97	0.89272	D	0.936	0.94196	-0.9143	0.46311	T	0.051	0.21650	T	10	0.2015154	0.36238	T	0.00588	0.15310	T	0.326	0.64826	.	.	0.582989276457	0.57971	0.7350060494777294	0.73445	.	.	0.758608818054	0.75722	T	0.252282	0.62264	T	0.162173	0.70403	D	-0.00482638	0.70022	D	0.910666465759277	0.56597	D	0.60024	0.22396	T	0.96664566	0.97941	0.95434904	0.98656	0.96664566	0.97941	0.95434904	0.98657	-18.233	0.99613	D	.	.	0.996	0.96165	P	.	.	3.710376	0.52968	23.3	0.99857324271766146	0.93639	0.94452	0.61211	D	AEFDGBI	0.825201	0.74494	D	0.811074925446151	0.86794	9.001175	0.572615151786371	0.72983	5.896734	0.999999996164582	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.61531	0.40942	0	0.651492	0.60203	0	.	.	3.12	3.12	0.34986	5.249000	0.65246	3.133000	0.36449	0.585000	0.30472	1.000000	0.71638	0.993000	0.31925	0.817000	0.38496	0.0:0.0:0.0:1.0	9.309	0.37057	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	72.33	34	chr1	161525485	.	T	C	72.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.004;DP=1031;ExcessHet=0;FS=32.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.04;MQRankSum=-5.687;QD=0.54;ReadPosRankSum=-0.149;SOR=5.219	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr1	161525664	161525664	G	T	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G1006T:p.V336F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00188071660749	0.0002	0.000399361	0.0002	0.0004	0.0010	0	0	0.0002	0.0023	0	0.000194	30	154602	rs417707	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0005	8.962e-05	0.0008	3.826e-05	2.519e-05	1.873e-05	0.0002	0.0001	0.0002	5.799e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0007	0	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.798	0.44840	P	0.477	0.46994	P	0.064806	0.21926	U	0.220760	1	0.08975	N	4.08	0.97210	H	2.36	0.16089	T	-3.34	0.66325	D	0.486	0.52029	-1.0067	0.27943	T	0.059	0.24760	T	10	0.030601382	0.01188	T	0.001881	0.03299	T	0.116	0.32463	.	.	0.298403945805	0.29456	0.44376738541459615	0.44294	.	.	0.454389870167	0.32544	T	0.092176	0.38950	T	-0.377254	0.03242	T	-0.414377	0.31721	T	0.150707036509307	0.17160	T	0.30037	0.05618	T	0.6783182	0.76879	0.7197446	0.83454	0.6783182	0.76880	0.7197446	0.83455	-10.947	0.79367	D	.	.	0.833	0.78903	P	.	.	1.091388	0.14752	11.30	0.9902332680942435	0.50634	0.03290	0.08340	N	AEFBI	0.087080	0.17656	N	-0.326811390215654	0.28134	1.549242	-0.651519772175005	0.18178	0.9699505	0.998162078887007	0.36515	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.23	-1.77	0.07551	-0.093000	0.11077	-20.000000	0.00162	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.690000	0.33838	0.3694:0.1726:0.2834:0.1746	0.585	0.00671	884	0.28482	Heat shock protein 70, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1093.33	34	chr1	161525664	.	G	T	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1222;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=-3.391;QD=4.82;ReadPosRankSum=1.98;SOR=1.048	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr1	161589676	161589676	C	A	exonic	FCGR2C	.	unknown	UNKNOWN	Thrombocytopenic purpura, autoimmune, Autosomal dominant	73	1436	8	4	1	17	0.00554017	.	.	.	2378904	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0.0006	0.0003	0.0008	0	0.0010	0.0011	0.0017	0.0036545	565	154602	rs111603147	0.0026	0.0059	0.0025	0.0027	0.0063	0.0025	0.0025	0.0047	0.0041	0.0015	0.0016	0.0070	0.0008	0.0004	0.0063	0.0027	0.0038	0.0023	0.0041	0.0075	0.0044	0.0038	0.0069	0.0038	0.0037	0.0052	0.0050	0.0015	0.0011	0.0050	0.0109	0.0012	0.0002	0.0180	0.0057	0.0072	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.018492132	0.00403	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.417505	0.01775	T	-0.363098	0.37692	T	.	.	.	0.0449955	0.00529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00573	B	.;.	.;.	-1.868752	0.00135	0.002	0.77607354438358023	0.11947	0.00503	0.02366	N	AEFDBHCI	0.024735	0.01579	N	.	.	.	.	.	.	0.773651678474831	0.23715	0.074636	0.01641	0	0.084543	0.02171	0	0.03606	0.00165	1	0.074188	0.01825	0	.	.	3.29	-2.25	0.06498	-0.608000	0.05737	-4.495000	0.02127	-1.602000	0.00892	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3164:0.3218:0.2051:0.1567	0.857	0.01110	878	0.29785	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010395	0.000000	0.012640	0.003049	0.000000	0.053571	0.015823	0.000000	0.02632	273.33	40	chr1	161589676	.	C	A	273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.23;DP=2091;ExcessHet=0;FS=68.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.64;MQRankSum=-7.437;QD=1.31;ReadPosRankSum=-1.035;SOR=6.518	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	161675268	161675268	T	G	exonic	FCGR2B	.	nonsynonymous SNV	FCGR2B:NM_001190828:exon5:c.T751G:p.Y251D,FCGR2B:NM_001002275:exon6:c.T769G:p.Y257D,FCGR2B:NM_004001:exon6:c.T772G:p.Y258D	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0042	.	0.0036	0.0296	0.0019	0.0020	0.0002	0.0007	0.0014	0.0035	0.0027813	430	154602	rs148534844	0.0007	0.0011	0.0007	0.0006	0.0124	0.0006	0.0006	0.0114	0.0110	0.0124	0.0006	7.712e-05	0.0011	1.875e-05	0.0009	0.0003	0.0009	0.0008	0.0013	0.0015	0.0015	0.0011	0.0040	0.0012	0.0011	0.0035	0.0033	0.0040	0	0.0003	0	0.0012	0	0	0.0002	0.0019	0	0.225	0.19225	T	0.263	0.23298	T	0.001	0.07471	B	0.006	0.12133	B	0.276032	0.03802	N	1.572250	1	0.08975	N	0	0.06538	N	1.66	0.27486	T	0.68	0.02228	N	0.157	0.16308	-1.0063	0.28065	T	0.012	0.04558	T	10	0.004578322	0.00095	T	.	.	.	0.016	0.02506	.	.	0.0762999501168	0.06990	0.17898351202306328	0.17817	1.28758288876	0.82701	0.303321242332	0.10898	T	0.014142	0.12098	T	-0.62584	0.00101	T	-0.671897	0.07487	T	0.00127545891733533	0.00013	T	0.0831917	0.00611	T	0.04978741	0.08895	0.05930132	0.11107	0.04978741	0.08895	0.05930132	0.11107	-0.382	0.00516	T	.	.	0.069	0.07697	B	.;.	.;.	0.639066	0.10078	6.824	0.94905941052269716	0.25763	0.05310	0.11159	N	AEFBI	0.049183	0.08470	N	-1.02883612828005	0.08009	0.374046	-0.93139360021902	0.11356	0.5779729	1.66714316378475E-5	0.02871	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.06	-1.78	0.07527	0.099000	0.15047	0.441000	0.18425	-0.567000	0.04800	0.599000	0.27739	0.009000	0.19889	0.604000	0.31488	0.4674:0.0:0.1509:0.3817	3.841	0.08423	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002847	0.019737	0.002740	0.004386	0.000000	0.000000	0.003356	0.000000	0.05263	424.83	36	chr1	161675268	.	T	G	424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.364;DP=798;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.58;MQRankSum=-3.578;QD=2.61;ReadPosRankSum=0.937;SOR=0.621	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1068	17	0	2	0
chr1	161983901	161983901	C	T	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon8:c.G2030A:p.C677Y,OLFML2B:NM_001347700:exon8:c.G2033A:p.C678Y,OLFML2B:NM_015441:exon8:c.G2027A:p.C676Y	.	427	1084	10	1	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.167066119828	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001488	23	154602	rs370824607	0.0001	0.0001	8.712e-05	0.0001	0.0009	9.67e-05	9.149e-05	0.0006	0.0005	2.987e-05	0	0.0015	0	0	0.0009	3.417e-05	0.0003	0.0007	9.191e-05	9.186e-05	8.992e-05	9.399e-05	0.0004	5.523e-05	4.361e-05	7.287e-05	3.028e-05	2.406e-05	0	0	0.0020	0	0	0.0034	4.409e-05	0	0.0004	0.0	0.91255	D	0.003	0.76473	D	0.983	0.73220	D	0.921	0.74454	D	.	.	.	.	1	0.81001	D	1.89	0.50145	L	-2.5	0.89219	D	-9.08	0.98548	D	0.871	0.88027	0.784	0.94215	D	0.807	0.93475	D	8	0.7873117	0.78357	D	0.167066	0.84553	D	0.847	0.95249	.	.	0.932881014979	0.93219	0.9096319379814302	0.90937	0.729400297996	0.62658	0.812890827656	0.83936	D	0.541593	0.93327	D	0.165395	0.70699	D	0.367395	0.90976	D	0.621257960796356	0.37257	D	0.943906	0.80311	D	0.9276329	0.93999	0.9187358	0.96309	0.93766415	0.95009	0.9263098	0.96838	-11.002	0.79670	D	.	.	0.788	0.77218	P	.;.;.	.;.;.	5.058713	0.84304	28.3	0.99661189420652352	0.77947	0.88803	0.48908	D	AEFDBCI	0.883842	0.81307	D	0.767841531722784	0.84061	8.183745	0.728344913256454	0.84532	8.317898	0.999999999893159	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	4.840000	0.62513	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.570	0.84457	888	0.27761	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2499.33	34	chr1	161983901	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.318;DP=782;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.044;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	18	0	1	0
chr1	162000256	162000256	A	G	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon5:c.T809C:p.L270P,OLFML2B:NM_001347700:exon5:c.T812C:p.L271P,OLFML2B:NM_015441:exon5:c.T806C:p.L269P	.	427	1041	49	5	0	59	0.0275572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0052	0.0163738	0.0110	0.0012	0.0029	0.0267	0.0035	0.0069	0.0033	0.0348	0.0106014	1639	154602	rs36108216	0.0100	0.0100	0.0092	0.0108	0.0383	0.0099	0.0098	0.0367	0.0360	0.0014	0.0024	0.0023	0.0383	0.0030	0.0119	0.0081	0.0107	0.0350	0.0063	0.0062	0.0060	0.0065	0.0333	0.0059	0.0058	0.0291	0.0275	0.0014	0	0.0038	0.0020	0.0286	0.0025	0.0102	0.0070	0.0071	0.0333	1.0	0.00964	T	0.489	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.613512	0.30840	N	-2.3	0.00097	N	-2.1	0.86146	D	3.01	0.00139	N	0.149	0.15187	-1.0508	0.14175	T	0.104	0.38267	T	8	0.002799362	0.00044	T	.	.	.	0.163	0.42028	.	.	.	.	0.2975862296045127	0.29671	0.189314342054	0.21244	0.325660854578	0.14277	T	0.003411	0.02940	T	-0.419719	0.01717	T	-0.350606	0.39136	T	0.00607611392748956	0.00067	T	0.0740926	0.00542	T	0.06410804	0.13569	0.16543847	0.38273	0.056234624	0.11036	0.16543847	0.38272	-2.908	0.09223	T	.	.	0.039	0.00012	B	.;.	.;.	1.636349	0.20887	14.96	0.082463429766814644	0.00061	0.01198	0.04275	N	AEFGBI	0.049340	0.08514	N	-1.07762642481418	0.07058	0.3267191	-0.873541528536387	0.12723	0.6561108	0.999993348183365	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.22	5.22	0.72285	2.280000	0.43103	5.673000	0.49264	-0.103000	0.15852	0.978000	0.35038	1.000000	0.68203	0.012000	0.09680	0.0856:0.0:0.9144:0.0	11.83	0.51565	900	0.24599	.;.	C1orf226	Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.006793	0.011696	0.000000	0.008621	0.018293	0.037879	0.02632	1306.33	34	chr1	162000256	.	A	G	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.347;DP=749;ExcessHet=0;FS=6.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.52;SOR=0.537	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	18	0	1	0
chr1	162017501	162017501	T	C	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon3:c.A445G:p.T149A,OLFML2B:NM_001347700:exon3:c.A445G:p.T149A,OLFML2B:NM_015441:exon3:c.A445G:p.T149A	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00646140959682	0.0007	.	0.0005	9.639e-05	0.0003	0	0	0.0009	0	6.082e-05	0.0004592	71	154602	rs145092080	0.0004	0.0004	0.0004	0.0004	0.0002	0.0004	0.0003	0.0001	9.608e-05	6.011e-05	0.0002	0.0133	0	0	0.0002	0.0001	0.0011	3.514e-05	0.0005	0.0005	0.0005	0.0006	0.0003	0.0004	0.0004	0.0001	0.0001	0	0	0.0003	0.0170	0	0	0	0.0002	0.0005	0.0002	0.077	0.34095	T	0.083	0.41405	T	0.934	0.52202	P	0.268	0.40804	B	.	.	.	.	0.81688	0.34719	D	1.87	0.49600	L	0.68	0.51952	T	-1.1	0.28497	N	0.275	0.37717	-1.0113	0.26510	T	0.065	0.26702	T	8	0.008276373	0.00188	T	0.006461	0.17014	T	0.067	0.19503	.	.	0.61403422888	0.61091	0.4065038612741242	0.40566	0.128866554687	0.14530	0.487339287996	0.37071	T	0.004171	0.19202	T	-0.27896	0.10777	T	-0.338159	0.40553	T	0.0215449605777779	0.00858	T	0.712229	0.32360	T	0.073375404	0.16392	0.1157559	0.27944	0.073375404	0.16391	0.1157559	0.27943	-9.533	0.71064	D	.	.	0.076	0.10835	B	.;.	.;.	2.613970	0.33953	19.49	0.99355653585456261	0.60779	0.90391	0.51529	D	AEFBI	0.612474	0.60053	D	0.272402804691641	0.54755	3.640318	0.348360419010825	0.58408	4.011196	0.999996108947436	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	1.466000	0.34919	4.166000	0.42242	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.400	0.60323	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	960.33	34	chr1	162017501	.	T	C	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=713;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.23;SOR=1.089	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1465	18	0	1	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.006793	0.023392	0.000000	0.008621	0.015244	0.026515	0.02632	740.33	52	chr1	162374071	.	C	T	740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=788;ExcessHet=0;FS=5.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=2.49;SOR=0.242	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1448	18	0	1	0
chr1	162776155	162776155	A	G	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon16:c.A2068G:p.M690V,DDR2:NM_001354983:exon16:c.A2068G:p.M690V,DDR2:NM_006182:exon16:c.A2068G:p.M690V,DDR2:NM_001014796:exon17:c.A2068G:p.M690V	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	277308	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|not_provided|Connective_tissue_disorder	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.655	0.0345289167767	7.7e-05	0.00139776	0.0006	0	0	0	0	5.998e-05	0.0011	0.0043	0.0005563	86	154602	rs377626332	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	0	2.236e-05	0	0	0	0.0010	4.497e-05	0.0002	0.0048	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	0	0	0.0001	0	0.0002	0	0	0.0001	0	0.0050	0.419	0.09866	T	0.129	0.34837	T	0.053	0.22573	B	0.148	0.34065	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.21	0.30464	L	-2.38	0.88298	D	-2.05	0.47008	N	0.662	0.67304	-0.4461	0.70529	T	0.395	0.74800	T	9	0.013472348	0.00286	T	0.034529	0.55736	D	0.655	0.87035	.	.	0.973642156486	0.97336	0.7524774297565009	0.75194	0.854938578419	0.68716	0.658908605576	0.61252	T	0.616772	0.87931	D	0.0437368	0.57532	T	0.290315	0.87694	D	0.0632377320065735	0.07669	T	0.856014	0.54441	D	0.45695558	0.64482	0.27215394	0.53123	0.5102004	0.67692	0.27629995	0.53572	-7.178	0.55323	T	.	.	0.185	0.40048	B	.;.;.	.;.;.	4.153329	0.62320	24.4	0.97710615766073083	0.35495	0.99821	0.99681	D	AEFBI	0.893500	0.83152	D	0.0608806485536174	0.44645	2.734733	0.252524769552834	0.52791	3.451764	0.999999909562718	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.381000	0.78992	9.368000	0.80425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.178	0.65095	829	0.39537	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1698.33	36	chr1	162776155	.	A	G	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.841;SOR=0.64	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	18	0	1	0
chr1	163339479	163339479	T	G	splicing	NUF2	NM_145697:exon8:c.606+2T>G;NM_031423:exon8:c.606+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.304e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs755028713	6.837e-05	0.0014	6.814e-05	6.86e-05	7.631e-05	5.74e-05	5.274e-05	6.284e-05	5.779e-05	6.076e-05	2.249e-05	0	0	9.443e-05	0	7.631e-05	8.438e-05	2.341e-05	5.919e-05	0.0004	7.721e-05	4.035e-05	0.0006	3.08e-05	2.212e-05	0.0002	8.429e-05	4.818e-05	0	0.0001	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277071	0.81064	D	0.160217	0.80821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.804705	0.78109	26.8	0.98038777028674218	0.37774	0.96435	0.69125	D	AEFBI	.	.	.	0.918641877821744	0.92642	11.54256	0.727675605759747	0.84478	8.303652	0.306131535664577	0.19239	0.099367	0.02607	0	0.104858	0.03167	0	0.128073	0.03558	0	0.117559	0.03655	0	0.900427	0.56741	4.38	4.38	0.52019	4.578000	0.60640	7.262000	0.57963	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.0:0.0:1.0	10.177	0.42122	909	0.22467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	37.33	82	chr1	163339479	.	T	G	37.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.282;DP=1200;ExcessHet=0;FS=11.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.733;SOR=3.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1166:.	18	0	1	0
chr1	165669311	165669311	C	T	exonic	ALDH9A1	.	nonsynonymous SNV	ALDH9A1:NM_000696:exon7:c.G1070A:p.R357Q,ALDH9A1:NM_001365774:exon7:c.G788A:p.R263Q	.	434	1062	22	4	0	30	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00750031395096	0.0007	0.000599042	0.0017	0.0002	0.0010	0	0	0.0007	0.0033	0.0086	0.001423	220	154602	rs139040317	0.0009	0.0009	0.0007	0.0011	0.0109	0.0009	0.0009	0.0088	0.0080	0.0003	0.0010	0.0004	5.039e-05	0	0.0109	0.0005	0.0012	0.0073	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	9.624e-05	0	0.0007	0.0003	0	0	0.0238	0.0007	0.0009	0.0048	0.506	0.07594	T	0.462	0.12526	T	0.014	0.16867	B	0.007	0.12992	B	0.015373	0.28265	N	0.389406	0.999882	0.19853	N	.	.	.	-0.94	0.75325	T	0.16	0.05217	N	0.294	0.33250	-1.0961	0.04597	T	0.060	0.24945	T	9	0.006780863	0.00154	T	0.007	0.19899	T	0.070	0.20419	.	.	0.467247493403	0.46351	0.524253532125744	0.52349	0.164045148419	0.18510	0.247951298952	0.03555	T	0.091657	0.38842	T	-0.459449	0.00991	T	-0.428037	0.30158	T	0.00793472972963079	0.00093	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10449	B	.	.	2.107515	0.26815	17.25	0.95789834834781484	0.27828	0.12773	0.17471	N	AEFBI	0.140069	0.26186	N	-0.785434898264079	0.13689	0.6761632	-0.646976730976338	0.18293	0.9765886	0.78969454586111	0.23993	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	1.55	0.22356	0.444000	0.21376	0.226000	0.16132	0.549000	0.26987	0.050000	0.21411	0.008000	0.19753	0.934000	0.47231	0.0:0.6474:0.1562:0.1964	7.056	0.24281	912	0.21483	Aldehyde dehydrogenase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.010870	0.023392	0.000000	0.008621	0.006098	0.007576	0.02632	925.33	33	chr1	165669311	.	C	T	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.671;DP=710;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.482;SOR=0.859	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	118.97	88	chr1	165743215	.	G	C	118.97	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.885;DP=1613;ExcessHet=0.3672;FS=217.04;InbreedingCoeff=-0.1466;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.688;SOR=10.986	GT:AD:DP:GQ:PL	0/0:80,20:100:22:0,22,1458	14	0	3	2
chr1	166070404	166070404	C	T	exonic	FAM78B	.	nonsynonymous SNV	FAM78B:NM_001017961:exon2:c.G623A:p.R208Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0110068760419	.	.	1.652e-05	9.615e-05	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs775991053	5.473e-06	6.156e-06	4.084e-06	6.875e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.0	0.92824	D	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	.	.	.	-3.68	0.70314	D	0.907	0.90818	-0.2408	0.76605	T	0.387	0.74180	T	8	0.89986324	0.89346	D	0.011007	0.28187	T	0.681	0.88300	0.783	0.90693	0.773127783592	0.77104	0.7309247142228043	0.73037	1.54617833826	0.87831	0.812075614929	0.83811	D	0.423198	0.77403	T	0.304135	0.83294	D	0.38062	0.91451	D	0.919410943984985	0.57811	D	0.990658	0.97102	D	0.49939236	0.67060	0.33854115	0.59630	0.49939236	0.67060	0.33854115	0.59630	-3.883	0.22047	T	.	.	0.987	0.92817	P	.;.	.;.	4.537757	0.71295	25.7	0.99943405127570817	0.99848	0.84201	0.43284	D	AEFCI	0.949244	0.96170	D	0.868222518854619	0.90121	10.26153	0.847858631950756	0.92889	11.69454	0.999999501833212	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.798000	0.84489	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	17.352	0.87214	918	0.19598	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3610.33	34	chr1	166070404	.	C	T	3610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=887;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.301;SOR=0.753	GT:AD:DP:GQ:PL	0/1:97,131:228:99:3624,0,2358	18	0	1	0
chr1	166846697	166846697	G	A	exonic	POGK	.	nonsynonymous SNV	POGK:NM_017542:exon3:c.G218A:p.R73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0164892652521	0.0022	0.000798722	0.0017	0.0009	0.0005	0	0.0023	0.0025	0	0.0001	0.0017529	271	154602	rs144284216	0.0022	0.0022	0.0022	0.0022	0.0027	0.0022	0.0022	0.0027	0.0026	0.0002	0.0005	0	0	0.0013	0.0002	0.0027	0.0018	6.956e-05	0.0018	0.0018	0.0018	0.0018	0.0032	0.0016	0.0016	0.0028	0.0027	0.0006	0	0.0010	0	0	0.0016	0	0.0032	0.0014	0	0.032	0.44694	D	0.014	0.92824	D	0.865	0.47557	P	0.497	0.47562	P	0.000518	0.43753	D	0.000000	0.551606	0.81001	D	1.675	0.43121	L	4.24	0.02590	T	-1.77	0.41809	N	0.532	0.56058	-0.7707	0.56820	T	0.005	0.01833	T	9	0.00979054	0.00220	T	0.016489	0.37771	T	0.161	0.41658	.	.	0.521320446786	0.51775	0.6042994188650999	0.60360	2.09199961885	0.94731	0.538857281208	0.44283	T	0.047353	0.27697	T	-0.292886	0.09349	T	-0.195593	0.55063	T	0.0460906551652682	0.04800	T	0.889711	0.62218	D	0.06749284	0.14622	0.070924215	0.15127	0.06749284	0.14621	0.070924215	0.15126	-5.596	0.42755	T	.	.	0.213	0.44108	B	.;.;.	.;.;.	4.788480	0.77679	26.7	0.9995638966343765	0.99975	0.68850	0.33959	D	AEFDBCI	0.180561	0.30787	N	0.19350849307554	0.50887	3.274571	0.227393773237352	0.51374	3.320374	0.996198018553756	0.34585	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.85	3.93	0.44666	1.939000	0.39841	6.592000	0.56029	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0909:0.0:0.9091:0.0	10.996	0.46790	610	0.67008	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1276.33	33	chr1	166846697	.	G	A	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.313;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	18	0	1	0
chr1	167094904	167094904	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon2:c.G55A:p.E19K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00671994760023	.	.	4.051e-05	0.0001	0	0	0	1.795e-05	0	0.0002	3.23e-05	5	154602	rs745821607	3.56e-05	3.557e-05	3.405e-05	3.716e-05	0.0003	2.764e-05	2.503e-05	6.094e-05	2.672e-05	0	0	0	0	0	0.0003	3.328e-05	9.944e-05	8.153e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.096	0.39340	T	0.892	0.49086	P	0.113	0.31689	B	0.558742	0.11358	N	0.758643	0.977486	0.25309	N	1.78	0.46185	L	3.81	0.03754	T	-0.39	0.13611	N	0.33	0.48963	-0.9095	0.46916	T	0.005	0.01542	T	10	0.15486172	0.29201	T	0.00672	0.17756	T	0.137	0.36984	.	.	0.325263233342	0.32141	0.6024434552373764	0.60175	0.0800996958353	0.09014	0.426671028137	0.28753	T	0.00285	0.02248	T	-0.297664	0.08882	T	-0.428682	0.30084	T	0.125325334306217	0.14943	T	0.79822	0.44280	T	0.1952566	0.41307	0.13140833	0.31554	0.1952566	0.41307	0.13140833	0.31553	-4.145	0.25951	T	.	.	0.083	0.14201	B	.;.;.	.;.;.	2.718806	0.35558	19.93	0.99870873936547555	0.94815	0.64024	0.32274	D	AEFDBCI	0.596596	0.59070	D	0.0688983712646746	0.45016	2.765334	0.12843882621231	0.46011	2.854148	0.999999999568743	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.450000	0.59781	5.699000	0.49371	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.393	0.83384	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1364.33	37	chr1	167094904	.	G	A	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.671;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	18	0	1	0
chr1	167126231	167126231	A	C	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.A1100C:p.Q367P	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00698882	0.0052	0	0	0.0523	0	0.0003	0	0.0035	0.0023286	360	154602	rs117105149	0.0018	0.0017	0.0017	0.0018	0.0547	0.0017	0.0017	0.0528	0.0520	3.194e-05	0	0	0.0547	0	0.0011	0.0001	0.0012	0.0019	0.0015	0.0016	0.0014	0.0017	0.0396	0.0014	0.0013	0.0352	0.0334	0	0	6.544e-05	0	0.0396	0	0	0.0002	0.0005	0.0029	0.09	0.31987	T	0.24	0.24406	T	0.001	0.07471	B	0.001	0.04355	B	0.002538	0.00895	N	3.126360	1	0.08975	N	0.805	0.20218	L	3.93	0.03435	T	-0.51	0.15986	N	0.096	0.09631	-0.9070	0.47215	T	0.003	0.00897	T	10	0.002829343	0.00045	T	.	.	.	0.011	0.01250	.	.	0.0611884634855	0.05136	0.10036524088444965	0.09967	0.0503304759657	0.05522	0.222468584776	0.01457	T	7.32E-4	0.00340	T	-0.732831	0.00023	T	-0.771984	0.02704	T	0.0155254965460219	0.00352	T	0.265773	0.04346	T	0.06418571	0.13594	0.0531769	0.08908	0.06418571	0.13593	0.0531769	0.08907	-3.38	0.14788	T	.	.	0.060	0.01960	B	.;.;.	.;.;.	-1.779218	0.00164	0.002	0.61244081616762691	0.06661	0.09926	0.15569	N	AEFDBCI	0.247843	0.36835	N	-1.32367449042492	0.03406	0.1520817	-1.38542917108379	0.03407	0.1588395	0.579932890001882	0.21562	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.53	-2.71	0.05633	-0.533000	0.06245	-8.240000	0.01003	-1.488000	0.01048	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3026:0.2908:0.3023:0.1043	2.393	0.04117	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003817	0.02632	622.33	46	chr1	167126231	.	A	C	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.038;DP=832;ExcessHet=0;FS=3.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.771;SOR=1.23	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr1	167128195	167128195	T	C	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.T3064C:p.S1022P	.	437	1083	2	0	0	2	0.000922509	.	.	.	2431338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0146970702915	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs148333266	5.951e-05	5.951e-05	5.989e-05	5.913e-05	0.0014	4.882e-05	4.561e-05	0.0007	0.0005	0	2.236e-05	0	0	1.872e-05	0.0014	6.565e-05	4.967e-05	1.159e-05	4.597e-05	4.594e-05	3.854e-05	5.374e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.406e-05	0	0	0	0	0	0.0034	7.351e-05	0	0	0.002	0.72154	D	0.032	0.53426	D	0.995	0.67487	D	0.795	0.57940	P	0.000122	0.49741	D	0.000000	0.918437	0.27350	N	2.48	0.72069	M	3.86	0.03624	T	-0.81	0.22294	N	0.318	0.50418	-1.0494	0.14565	T	0.014	0.05369	T	10	0.17488647	0.32391	T	0.014697	0.34987	T	0.112	0.31546	.	.	0.455996456696	0.45225	0.2675631160248488	0.26669	0.111640583288	0.12603	0.410389125347	0.26510	T	0.006335	0.05765	T	-0.237535	0.15665	T	-0.323933	0.42143	T	0.211474291641061	0.21030	T	0.629737	0.24459	T	0.29610345	0.52553	0.27956274	0.53926	0.29610345	0.52553	0.27956274	0.53925	-6.987	0.53939	T	.	.	0.233	0.46574	B	.;.;.	.;.;.	3.684530	0.52465	23.2	0.99458808734358273	0.65684	0.86859	0.46234	D	AEFDBI	0.717467	0.66897	D	0.409752272845986	0.61959	4.40419	0.363038919250369	0.59297	4.106316	0.973917746753734	0.29497	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	2.250000	0.42831	7.824000	0.69857	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2771:0.0:0.0:0.7229	9.187	0.36335	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2978.33	46	chr1	167128195	.	T	C	2978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=1113;ExcessHet=0;FS=3.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.631;SOR=0.734	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr1	167553591	167553591	G	A	exonic	CREG1	.	nonsynonymous SNV	CREG1:NM_003851:exon1:c.C151T:p.P51S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.24343906544	.	.	0.0026	0	0	0	.	0	0	0.0034	7.12e-05	11	154602	rs773044756	7.475e-05	7.867e-05	3.861e-05	0.0001	0.0014	6.243e-05	5.798e-05	0.0012	0.0011	0	0	0	0	0	0	9.75e-07	5.706e-05	0.0014	1.314e-05	1.312e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.063724	0.999766	0.48888	D	2.47	0.71715	M	.	.	.	-4.55	0.78553	D	0.37	0.41162	-0.5211	0.67873	T	0.281	0.65320	T	8	0.06412181	0.08456	T	0.243439	0.88802	D	0.253	0.56294	0.35	0.34760	0.436780212511	0.43300	0.43318682421574717	0.43235	0.401420650382	0.41125	0.835001349449	0.87329	D	0.196859	0.55337	T	-0.197558	0.21158	T	-0.0919327	0.64016	T	0.255573071699542	0.23121	T	0.594141	0.21965	T	0.526658	0.68640	0.54872555	0.73910	0.526658	0.68642	0.54872555	0.73910	-6.884	0.53181	T	.	.	0.188	0.40473	B	.;.	.;.	5.293423	0.88871	29.8	0.99875856960660048	0.95328	0.84864	0.43957	D	ALL	0.707974	0.66253	D	0.682811629709604	0.78506	6.885479	0.630603019474987	0.77173	6.62872	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.86	3.92	0.44525	6.539000	0.73760	10.520000	0.83401	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0766:0.0:0.9234:0.0	13.683	0.61974	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1633.81	36	chr1	167553591	.	G	A	1633.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.71;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	1	0	0
chr1	167685433	167685433	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_052862:exon3:c.A121G:p.K41E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0391877421131	0.0022	0.00119808	0.0017	9.615e-05	0.0011	0	0.0002	0.0028	0.0044	0.0002	0.0017788	275	154602	rs35632798	0.0021	0.0021	0.0020	0.0021	0.0088	0.0020	0.0020	0.0069	0.0062	0.0003	0.0017	0.0011	0	0.0003	0.0088	0.0024	0.0020	0.0003	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0026	0.0004	0	0.0016	0.0014	0.0002	0.0004	0	0.0030	0.0043	0	0.006	0.61437	D	0.278	0.60337	T	0.952	0.54136	P	0.612	0.51145	P	0.001409	0.39109	N	0.210283	0.997451	0.81001	D	2.295	0.65404	M	0.26	0.59314	T	-2.77	0.58733	D	0.529	0.55799	-0.7572	0.57556	T	0.158	0.49076	T	9	0.010315359	0.00230	T	0.039188	0.58664	D	0.196	0.47777	.	.	0.727987339678	0.72557	0.40221737891879916	0.40137	0.213919811544	0.23913	0.575663208961	0.49476	T	0.178619	0.52934	T	-0.29159	0.09477	T	-0.195303	0.55092	T	0.0315603842150282	0.02236	T	0.854814	0.54193	D	0.24832115	0.47818	0.29369807	0.55398	0.24832115	0.47818	0.29369807	0.55397	-13.576	0.91597	D	.	.	0.709	0.73322	P	.;.	.;.	4.146194	0.62163	24.4	0.99839720808106169	0.92057	0.93032	0.57154	D	AEFBI	0.609371	0.59859	D	0.405463213415655	0.61721	4.377216	0.372449615563726	0.59871	4.168844	0.999996164551033	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.21	4.09	0.47038	5.925000	0.69783	9.156000	0.78970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9253:0.0:0.0747:0.0	10.782	0.45585	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	822.33	42	chr1	167685433	.	A	G	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.291;DP=720;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.246;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	18	0	1	0
chr1	168714228	168714228	A	C	exonic	DPT	.	nonsynonymous SNV	DPT:NM_001937:exon2:c.T424G:p.S142A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0049954336571	.	.	8.244e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs778151815	3.694e-05	3.694e-05	1.361e-05	6.05e-05	0.0006	2.894e-05	2.592e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.185	0.21550	T	0.187	0.28764	T	0.001	0.07471	B	0.004	0.10090	B	0.000064	0.52346	D	0.173530	0.994295	0.42229	D	1.59	0.40313	L	0.91	0.44856	T	-1.45	0.35597	N	0.443	0.48134	-1.0823	0.06908	T	0.036	0.15465	T	9	0.24444771	0.41676	T	0.004995	0.12598	T	0.036	0.09122	0.44	0.49484	0.682360461295	0.67965	0.27343071970207855	0.27256	0.0803138605224	0.09039	0.541609287262	0.44673	T	0.230196	0.59621	T	-0.425601	0.01576	T	-0.492746	0.23103	T	0.123440427701791	0.14763	T	0.589341	0.21633	T	0.109525524	0.25893	0.095379844	0.22620	0.109525524	0.25893	0.095379844	0.22619	-4.66	0.32917	T	0.2633378756775925	0.35528	0.077	0.06295	B	.	.	2.891946	0.38301	20.7	0.9897392516530753	0.49600	0.93663	0.58837	D	AEDGBI	0.642233	0.61929	D	-0.104470293732353	0.37196	2.160708	0.103008134829643	0.44701	2.746892	0.952571677917377	0.28024	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	4.62	0.56946	4.326000	0.59028	5.173000	0.47836	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.7248:0.2752:0.0:0.0	10.918	0.46361	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1670.33	34	chr1	168714228	.	A	C	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.021;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.751;SOR=0.713	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1427	18	0	1	0
chr1	168729065	168729065	C	A	exonic	DPT	.	nonsynonymous SNV	DPT:NM_001937:exon1:c.G110T:p.G37V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0130591021345	.	0.00139776	0.0012	0	0	0	0	0	0.0022	0.0088	0.0010155	157	154602	rs565275697	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0005	0.0090	0.0088	2.987e-05	0	0	0	0	0.0002	7.194e-06	0.0006	0.0095	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.035	0.43708	D	0.032	0.53426	D	0.899	0.49514	P	0.49	0.47330	P	0.000756	0.42006	D	0.267246	0.999999	0.58761	D	0.695	0.17993	N	0.87	0.46412	T	-1.22	0.30964	N	0.495	0.52829	-1.0589	0.12032	T	0.061	0.25528	T	9	0.015725493	0.00330	T	0.013059	0.32163	T	0.106	0.30130	0.406	0.43902	0.785964137318	0.78398	0.6515936956534731	0.65095	0.563308935047	0.52772	0.456820905209	0.32875	T	0.166978	0.51343	T	-0.430698	0.01468	T	-0.385047	0.35131	T	0.111157728459889	0.13543	T	0.749125	0.37025	T	0.12774277	0.29885	0.15100794	0.35589	0.15706508	0.35410	0.11832688	0.28562	-3.913	0.22497	T	.	.	0.176	0.38480	B	.	.	2.421762	0.31145	18.65	0.99608830904154133	0.74694	0.51349	0.28875	D	AEFBCIJ	0.495916	0.53108	N	0.0832051882814886	0.45680	2.820512	0.0715507140757433	0.43125	2.620812	0.999997042689818	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	0.777000	0.26379	0.831000	0.21948	0.599000	0.40250	0.133000	0.23395	0.244000	0.23872	0.998000	0.85391	0.0:0.87:0.0:0.13	10.167	0.42064	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2651.33	41	chr1	168729065	.	C	A	2651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.627;SOR=0.657	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1456	18	0	1	0
chr1	169169535	169169535	C	T	exonic	NME7	.	nonsynonymous SNV	NME7:NM_013330:exon11:c.G1010A:p.R337H,NME7:NM_197972:exon11:c.G902A:p.R301H	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0410636196253	.	0.00159744	0.0011	9.628e-05	0	0	0	0	0	0.0078	0.0008926	138	154602	rs550467565	0.0005	0.0005	0.0003	0.0007	0.0072	0.0004	0.0004	0.0067	0.0065	2.988e-05	0	0	2.52e-05	0	0.0003	2.069e-05	0.0005	0.0072	0.0003	0.0003	7.71e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.408e-05	0	0	0	0	0	0	2.941e-05	0	0.0089	0.002	0.72154	D	0.07	0.43913	T	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.35	0.67516	M	0.51	0.55439	T	-4.04	0.74427	D	0.91	0.91162	-0.4866	0.69129	T	0.255	0.62575	T	9	0.0136627555	0.00289	T	0.041064	0.59724	D	0.290	0.60924	0.47	0.54376	0.796077393333	0.79417	0.6752220365856174	0.67460	0.373081078296	0.38782	0.717466711998	0.69677	T	0.270586	0.64286	T	-0.318384	0.07031	T	-0.225267	0.52228	T	0.128982964644575	0.15287	T	0.986601	0.95955	D	0.38122073	0.59405	0.2372449	0.49017	0.38122073	0.59405	0.2372449	0.49016	-6.122	0.51214	T	.	.	0.238	0.48061	B	.;.	.;.	5.434025	0.90852	32	0.99920078274738433	0.98721	0.90067	0.50958	D	AEFI	0.652876	0.62612	D	0.677189744601149	0.78139	6.811	0.628981208281043	0.77053	6.606074	0.973418426961393	0.29454	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	4.57	0.55860	5.958000	0.70050	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.923:0.0:0.0769	13.402	0.60336	624	0.65661	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	986.33	33	chr1	169169535	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=679;ExcessHet=0;FS=3.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-2.014;SOR=1.321	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chr1	169540460	169540460	C	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.G4630T:p.V1544L	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1801687	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0422988685976	.	0.000199681	0.0001	0	0	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs139288793	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0003	0.0002	5.975e-05	4.474e-05	0	0	5.617e-05	0.0009	0.0002	0.0002	1.159e-05	9.852e-05	0.0001	8.995e-05	0.0001	0.0002	6.004e-05	4.878e-05	0.0001	9.899e-05	0	0	6.541e-05	0	0	0	0	0.0002	0	0	0.011	0.57480	D	0.016	0.60972	D	0.833	0.46172	P	0.519	0.48163	P	0.000008	0.62929	D	0.063640	0.999975	0.53665	D	2.65	0.77586	M	1.0	0.41392	T	-2.41	0.52938	N	0.435	0.51761	-0.8508	0.51912	T	0.158	0.49128	T	9	0.17182997	0.31922	T	0.042299	0.60388	D	0.206	0.49396	0.44	0.49484	0.668704303088	0.66591	0.8525159941614119	0.85213	0.447768017683	0.44634	0.537139415741	0.44042	T	0.182066	0.53396	T	-0.201072	0.20650	T	-0.233115	0.51470	T	0.36934232711792	0.27772	T	0.773423	0.40508	T	0.15246047	0.34608	0.4229147	0.66178	0.15246047	0.34608	0.4229147	0.66178	-3.68	0.19023	T	0.8304579369758847	0.90140	0.303	0.53245	B	.;.	.;.	3.471852	0.48438	22.6	0.99603156799206716	0.74338	0.98713	0.85906	D	AEFBI	0.818734	0.73992	D	0.390726356115825	0.60919	4.286346	0.338503455232779	0.57818	3.949076	0.999999881697524	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	5.268000	0.65349	4.010000	0.41153	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.752000	0.35857	0.0:1.0:0.0:0.0	20.333	0.98727	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2645.33	39	chr1	169540460	.	C	A	2645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.034;DP=935;ExcessHet=0;FS=4.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=1.85;SOR=1.065	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr1	169541138	169541138	G	T	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.C3952A:p.Q1318K	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	862735	Factor_V_deficiency|Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Budd-Chiari_syndrome|Ischemic_stroke|Pregnancy_loss,_recurrent,_susceptibility_to,_1|Thrombophilia_due_to_thrombin_defect	Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|Human_Phenotype_Ontology:HP:0002140,MedGen:C0948008,OMIM:601367|MONDO:MONDO:0013727,MeSH:D000026,MedGen:C3280670,OMIM:614389|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	.	.	0.00319489	0.0017	0	0	0.0001	0	0	0	0.0128	0.0015006	232	154602	rs538359973	0.0003	0.0003	0.0001	0.0005	0.0053	0.0003	0.0003	0.0048	0.0047	0	0	0	0	0	0.0002	9.173e-07	0.0002	0.0053	0.0003	0.0003	0.0001	0.0004	0.0086	0.0002	0.0002	0.0065	0.0058	4.847e-05	0	0	0	0	0	0	0	0	0.0086	0.028	0.48186	D	0.548	0.09489	T	0.799	0.44910	P	0.112	0.31615	B	0.984105	0.08074	N	0.992567	1	0.08975	N	2.325	0.66631	M	1.39	0.33842	T	-1.3	0.32590	N	0.233	0.26233	-1.0351	0.18825	T	0.040	0.17149	T	9	0.004408002	0.00090	T	.	.	.	0.068	0.19811	0.207	0.12356	0.379193981924	0.37526	0.5156648822068403	0.51489	0.11607837955	0.13092	0.196179002523	0.00354	T	0.036265	0.24038	T	-0.562324	0.00246	T	-0.581036	0.14453	T	0.0458388258513645	0.04755	T	0.572443	0.20452	T	0.042975	0.06616	0.05312397	0.08886	0.033009578	0.03435	0.043180063	0.05314	-9.453	0.70566	D	0.5072039466640682	0.58147	0.128	0.27192	B	.;.	.;.	0.902549	0.12763	9.283	0.85550484342504696	0.15963	0.12129	0.17077	N	AEFGBI	0.174937	0.30209	N	-0.557287898212923	0.20255	1.066479	-0.708969733160126	0.16737	0.8868281	0.0111148131088354	0.12133	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.33	2.29	0.27658	0.323000	0.19340	0.117000	0.14863	-0.893000	0.02373	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.3359:0.6641:0.0	12.004	0.52538	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002114	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	4773.33	383	chr1	169541138	.	G	T	4773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.317;DP=3400;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=0.517;QD=18.87;ReadPosRankSum=-0.921;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1139:.	18	0	1	0
chr1	170552356	170552356	C	T	exonic	GORAB	.	nonsynonymous SNV	GORAB:NM_152281:exon5:c.C1004T:p.S335F,GORAB:NM_001320252:exon7:c.C539T:p.S180F	Geroderma osteodysplasticum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0639569382935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.021	0.58089	D	0.958	0.54977	D	0.66	0.52803	P	0.418859	0.12898	N	0.749484	1	0.08975	N	2.125	0.59049	M	-0.36	0.68754	T	-2.36	0.52128	N	0.26	0.29429	-0.8157	0.54202	T	0.213	0.57428	T	10	0.26319295	0.43795	T	0.063957	0.69127	D	0.159	0.41286	0.341	0.33302	0.841547695655	0.84003	0.1988679768998058	0.19803	0.538510897305	0.51106	0.293607145548	0.09451	T	0.086582	0.37756	T	-0.084922	0.38912	T	-0.359761	0.38081	T	0.801724672317505	0.46471	D	0.656934	0.26653	T	0.0718468	0.15937	0.11222634	0.27078	0.0718468	0.15936	0.11222634	0.27077	.	.	.	.	.	0.100	0.17232	B	.	.	2.901360	0.38459	20.7	0.996246832855881	0.75655	0.38126	0.25918	N	AEFBI	0.054748	0.09980	N	-0.0544007278764658	0.39407	2.323325	-0.193849837019874	0.31763	1.800553	0.201049600645425	0.18123	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.91	4.01	0.45821	0.878000	0.27770	0.867000	0.22280	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.525000	0.29590	0.0:0.7943:0.1336:0.0721	10.310	0.42885	785	0.46916	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1923.33	43	chr1	170552356	.	C	T	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=1151;ExcessHet=0;FS=0.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.666;SOR=0.78	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.05263	3176.83	35	chr1	170998254	.	G	A	3176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.33;DP=835;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.294;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	17	0	2	0
chr1	171024410	171024410	C	T	exonic	MROH9	.	stopgain	MROH9:NM_001163629:exon18:c.C1924T:p.R642X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887844273	5.003e-06	5.472e-06	7.052e-06	2.898e-06	6.311e-05	2.08e-06	1.34e-06	2.444e-05	1.538e-05	3.166e-05	0	0	0	0	0	9.269e-07	0	6.311e-05	6.604e-06	6.577e-06	1.29e-05	0	2.428e-05	0	0	.	.	2.428e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448121	0.92396	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.848325	0.98108	38	0.99598677063740071	0.74042	0.93642	0.58778	D	AEFI	0.079390	0.16034	N	0.535814477214288	0.69222	5.326574	0.340904688959733	0.57961	3.964133	5.70474658080084E-4	0.07335	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	4.29	0.50359	1.976000	0.40202	1.930000	0.29765	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.036000	0.13842	0.1892:0.8108:0.0:0.0	10.769	0.45510	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	977.33	34	chr1	171024410	.	C	T	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.886;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	18	0	1	0
chr1	171024425	171024425	C	T	exonic	MROH9	.	stopgain	MROH9:NM_001163629:exon18:c.C1939T:p.R647X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.056e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs17346397	1.501e-05	1.437e-05	1.269e-05	1.739e-05	0.0002	9.65e-06	8.19e-06	6.234e-05	4.047e-05	0.0002	0	0	2.8e-05	0	0	1.02e-05	3.449e-05	2.524e-05	3.96e-05	3.946e-05	2.576e-05	5.413e-05	0.0001	1.722e-05	1.133e-05	4.759e-05	3.067e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116161	0.65984	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.898751	0.95885	35	0.96186122756362169	0.28975	0.05094	0.10893	N	AEFI	0.026732	0.02059	N	-0.0521195236466084	0.39507	2.330957	-0.432187513002922	0.24059	1.315365	2.62790630844471E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	-2.33	0.06340	-0.177000	0.09789	0.132000	0.15059	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.4808:0.3586:0.0:0.1606	6.082	0.19171	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2956.53	68	chr1	171024425	.	C	T	2956.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=798;ExcessHet=0;FS=0.716;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=-0.362;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	18	0	1	0
chr1	171108151	171108151	G	T	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001319174:exon4:c.G368T:p.R123L,FMO3:NM_001002294:exon5:c.G557T:p.R186L,FMO3:NM_006894:exon5:c.G557T:p.R186L,FMO3:NM_001319173:exon6:c.G497T:p.R166L	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.131620787118	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs143406401	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.983	0.60381	D	0.943	0.67921	D	0.000173	0.48594	D	0.166436	0.949644	0.37661	D	4.235	0.97980	H	-0.03	0.63077	T	-5.8	0.88148	D	0.746	0.74553	-0.0785	0.80587	T	0.432	0.77374	T	10	0.8946669	0.88817	D	0.131621	0.81389	D	0.375	0.69358	0.766	0.89373	0.630839932319	0.62781	0.6067844158050383	0.60609	0.321817298135	0.34384	0.33099681139	0.15085	T	0.175884	0.52563	T	0.111018	0.65458	D	0.018547	0.71536	D	0.994955599308014	0.86582	D	0.984801	0.94749	D	0.74737006	0.80715	0.6723641	0.80771	0.74737006	0.80717	0.6723641	0.80772	-10.835	0.78745	D	0.7266959745383709	0.80816	0.404	0.67357	A	.;.	.;.	4.087957	0.60867	24.3	0.99801493404653618	0.88639	0.93931	0.59607	D	AEFBHI	0.925543	0.90526	D	0.514856862170647	0.67969	5.152958	0.330476859177449	0.57336	3.899164	0.998525332043885	0.37129	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.08	3.21	0.35933	2.380000	0.43982	2.443000	0.32780	0.671000	0.69459	0.851000	0.30461	0.083000	0.22416	0.408000	0.26961	0.2443:0.0:0.7557:0.0	8.287	0.31097	710	0.56735	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	76	chr1	171108151	.	G	T	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=1063;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.502;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	18	0	1	0
chr1	171117177	171117177	C	G	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001319174:exon8:c.C1145G:p.P382R,FMO3:NM_001002294:exon9:c.C1334G:p.P445R,FMO3:NM_006894:exon9:c.C1334G:p.P445R,FMO3:NM_001319173:exon10:c.C1274G:p.P425R	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.0769283326203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.992	0.80445	D	0.000079	0.52346	D	0.173902	0.999996	0.58761	D	2.96	0.85114	M	-0.24	0.66834	T	-7.72	0.95696	D	0.66	0.66959	-0.1764	0.78271	T	0.395	0.74778	T	10	0.97404635	0.97102	D	0.076928	0.72650	D	0.622	0.85354	0.94	0.99182	0.700125190599	0.69753	0.7753590776579756	0.77485	0.273231095444	0.29826	0.474378287792	0.35284	T	0.072262	0.34411	T	0.182039	0.72230	D	0.0237099	0.71870	D	0.995927035808563	0.88327	D	0.768523	0.39806	T	0.7452648	0.80594	0.6720337	0.80753	0.7452648	0.80596	0.6720337	0.80754	-10.465	0.76646	D	.	.	0.847	0.79589	P	.	.	3.683912	0.52454	23.2	0.99728298145146776	0.82549	0.98729	0.86106	D	AEFGBIJ	0.897191	0.83908	D	0.377542439817442	0.60205	4.207126	0.2868903936034	0.54772	3.641382	0.999538017675596	0.40238	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	3.36	0.37579	5.025000	0.63873	3.110000	0.36356	-0.313000	0.06017	1.000000	0.71638	0.977000	0.30130	0.990000	0.65344	0.0:0.8375:0.0:0.1625	11.001	0.46822	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3368.33	36	chr1	171117177	.	C	G	3368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.069;DP=917;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.123;SOR=0.76	GT:AD:DP:GQ:PL	0/1:149,141:290:99:3382,0,3997	18	0	1	0
chr1	171334598	171334598	G	C	exonic	FMO4	.	nonsynonymous SNV	FMO4:NM_002022:exon8:c.G1015C:p.E339Q	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0032	0.00279553	0.0010	0.0102	0.0010	0	0	0	0.0011	0	0.0009314	144	154602	rs61342270	0.0004	0.0004	0.0004	0.0004	0.0125	0.0004	0.0004	0.0115	0.0111	0.0125	0.0009	0	0	0	0.0021	2.249e-05	0.0016	0	0.0034	0.0034	0.0034	0.0034	0.0117	0.0032	0.0031	0.0109	0.0105	0.0117	0	0.0016	0	0	0	0	2.941e-05	0.0024	0	0.013	0.53900	D	0.084	0.41239	T	0.958	0.54977	D	0.947	0.68407	D	0.000028	0.55875	D	0.124146	0.855172	0.35290	D	2.4	0.69460	M	0.29	0.58897	T	-1.95	0.45222	N	0.511	0.54234	-0.5798	0.65625	T	0.248	0.61751	T	10	0.006756127	0.00153	T	.	.	.	0.139	0.37390	.	.	0.797896232723	0.79601	0.3776172023135448	0.37676	0.443545078256	0.44280	0.336194962263	0.15868	T	0.025074	0.18822	T	-0.422173	0.01657	T	-0.368167	0.37104	T	0.032054469404005	0.02315	T	0.432057	0.11757	T	0.46512192	0.64989	0.41204402	0.65418	0.46512192	0.64990	0.41204402	0.65418	-6.438	0.49806	T	.	.	0.124	0.26042	B	.	.	4.050103	0.60023	24.2	0.99759236446608301	0.84931	0.95936	0.66796	D	AEFGI	0.621215	0.60599	D	0.497507709587373	0.66944	5.016219	0.476908802876964	0.66463	4.955331	0.395204448104387	0.20082	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.63	4.71	0.59010	5.451000	0.66375	8.080000	0.76477	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0736:0.0:0.9264:0.0	13.939	0.63551	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1992.33	37	chr1	171334598	.	G	C	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.891;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.453;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	18	0	1	0
chr1	171536209	171536209	A	G	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon14:c.A2218G:p.M740V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00774379245862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.419	0.14158	T	0.021	0.18474	B	0.013	0.16460	B	0.004316	0.33881	N	0.133611	0.998737	0.45356	D	1.79	0.46772	L	2.99	0.09262	T	-1.53	0.38540	N	0.411	0.45142	-1.0638	0.10831	T	0.014	0.05513	T	10	0.1765857	0.32650	T	0.007744	0.20536	T	0.070	0.20419	0.321	0.30064	0.110392049598	0.10638	0.3196012663072115	0.31873	0.190433303082	0.21362	0.679464459419	0.64191	T	0.037957	0.24667	T	-0.147934	0.28637	T	-0.450274	0.27666	T	0.68045699596405	0.39809	D	0.880112	0.61827	D	.	.	.	.	.	.	.	.	-8.329	0.63291	D	.	.	.	.	.	.;.;.	.;.;.	3.444059	0.47929	22.5	0.95885655510110746	0.28087	0.97938	0.78272	D	AEFBI	0.702728	0.65900	D	0.0819453461796388	0.45621	2.815615	0.259820977420382	0.53211	3.491097	0.327497458270122	0.19450	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	4.49	0.54177	7.026000	0.76192	5.335000	0.48329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9244:0.0:0.0756:0.0	12.404	0.54760	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2206.33	37	chr1	171536209	.	A	G	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.501;DP=802;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.715;SOR=0.948	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1410	18	0	1	0
chr1	171541451	171541451	G	A	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon16:c.G3979A:p.D1327N	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0234623544989	0.0022	0.00199681	0.0006	0.0062	0.0004	0	0	1.525e-05	0	0	0.0005304	82	154602	rs144742399	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0051	0.0049	0.0058	0.0005	0	2.519e-05	0	0.0005	1.079e-05	0.0005	1.16e-05	0.0018	0.0018	0.0019	0.0016	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0009	0	0	0	0	2.941e-05	0.0009	0	0.348	0.16466	T	0.408	0.14633	T	0.652	0.40767	P	0.087	0.29615	B	0.005733	0.32555	N	0.136380	0.968216	0.38645	D	0.805	0.20218	L	4.6	0.01868	T	-0.15	0.10308	N	0.187	0.20395	-0.5854	0.65403	T	0.003	0.00961	T	10	0.0044692755	0.00092	T	0.023462	0.46421	T	0.144	0.38394	.	.	0.128874641272	0.12493	0.048945602843972	0.04837	0.182269859379	0.20488	0.457548558712	0.32975	T	0.002436	0.01826	T	-0.641138	0.00082	T	-0.689301	0.06429	T	0.0158118131741702	0.00369	T	0.875712	0.58780	D	.	.	.	.	.	.	.	.	-4.692	0.33307	T	.	.	.	.	.	.;.;.	.;.;.	3.119285	0.42106	21.5	0.98596777274224845	0.43454	0.95591	0.65334	D	AEFBCI	0.722529	0.67243	D	0.159267148078842	0.49251	3.127628	0.308292198982282	0.56027	3.765542	0.999290205582231	0.39042	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	6.488000	0.73544	8.453000	0.77225	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	19.286	0.94059	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1723.33	60	chr1	171541451	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=1305;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.859;SOR=0.551	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr1	171541583	171541583	C	T	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon16:c.C4111T:p.R1371W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0244387267959	7.7e-05	.	1.679e-05	0	0	0	0	3.055e-05	0	0	1.94e-05	3	154602	rs141613899	1.163e-05	1.163e-05	8.169e-06	1.513e-05	8.946e-05	7.09e-06	5.79e-06	2.985e-05	1.804e-05	0	8.946e-05	0	0	0	0	1.079e-05	1.656e-05	0	1.315e-05	1.313e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.984	0.76113	D	0.000760	0.42006	D	0.000000	0.996249	0.43096	D	1.1	0.28011	L	4.27	0.02513	T	-3.75	0.71157	D	0.661	0.67045	-1.0637	0.10855	T	0.016	0.06425	T	10	0.45769507	0.59092	T	0.024439	0.47428	T	0.160	0.41473	.	.	0.209943299407	0.20609	0.15128303488701542	0.15050	0.194683967282	0.21811	0.744996726513	0.73709	T	0.054654	0.29785	T	-0.0213138	0.48666	T	-0.185527	0.56008	T	0.551966311228068	0.34551	D	0.967803	0.88325	D	.	.	.	.	.	.	.	.	-14.067	0.93272	D	.	.	.	.	.	.;.;.	.;.;.	3.567249	0.50221	22.9	0.97367173796504369	0.33602	0.81640	0.41003	D	AEFGBCI	0.653237	0.62634	D	0.451264685578775	0.64273	4.678365	0.39381993575589	0.61184	4.314928	0.630774791804258	0.21966	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	3.42	0.38259	1.658000	0.36992	1.773000	0.28651	0.588000	0.31329	0.862000	0.30648	0.917000	0.28245	0.965000	0.52897	0.541:0.459:0.0:0.0	12.150	0.53350	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1886.33	60	chr1	171541583	.	C	T	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=1324;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=-0.432;SOR=0.595	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr1	171566360	171566360	T	C	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon21:c.T6239C:p.I2080T	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00782850494166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.769e-06	2.736e-06	1.374e-06	4.186e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.573e-05	0	0	0	0	0	0.0005	0	1.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.39575	T	0.053	0.47336	T	0.001	0.07471	B	0.005	0.11217	B	0.073806	0.21322	N	0.332317	0.99924	0.21461	N	0	0.06538	N	4.54	0.01963	T	-1.36	0.33798	N	0.159	0.25499	-0.9535	0.40363	T	0.017	0.06950	T	10	0.09419575	0.16730	T	0.007829	0.20773	T	0.083	0.24192	0.227	0.15257	0.043077524339	0.03247	0.1313112341097066	0.13056	0.68278988503	0.60132	0.506373226643	0.39716	T	0.023953	0.18193	T	-0.24513	0.14701	T	-0.589889	0.13676	T	0.151822441446265	0.17248	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	-3.568	0.17395	T	.	.	.	.	.	.;.;.	.;.;.	3.266928	0.44703	22.0	0.74231783809482355	0.10619	0.89858	0.50600	D	AEBCI	0.314259	0.41917	N	-0.495006126508344	0.22244	1.186358	-0.492874595323712	0.22349	1.213465	0.709325210844203	0.22799	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	2.65	0.30588	4.752000	0.61873	2.887000	0.35366	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.331000	0.25224	0.0:0.1505:0.0:0.8495	9.107	0.35862	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1051.33	33	chr1	171566360	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.774;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr1	171623960	171623960	G	A	exonic	MYOCOS	.	nonsynonymous SNV	MYOCOS:NM_001368164:exon2:c.G77A:p.R26Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024073979	1.624e-05	6.361e-06	1.646e-05	1.602e-05	2.531e-05	4.8e-06	2.56e-06	7.91e-06	4.99e-06	0	0	0	0	0	0	2.531e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26214987	0.43680	T	.	.	.	.	.	.	.	.	.	0.022607673170827233	0.02212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59544	0.22079	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.49922	B	.;.;.;.	.;.;.;.	3.844799	0.55656	23.6	0.85753260679562282	0.16091	0.76694	0.37635	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.978347502055084	0.29912	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.138128	0.26529	4.42	3.5	0.39181	3.522000	0.53236	8.945000	0.78431	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.629000	0.32131	0.0:0.0:0.7975:0.2025	9.934	0.40711	693	0.58582	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	37.15	.	chr1	171623960	.	G	A	37.15	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.383;DP=13;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	3	0	1	15
chr1	171796700	171796700	G	T	exonic	EEF1AKNMT	.	nonsynonymous SNV	EEF1AKNMT:NM_001007239:exon8:c.G1576T:p.G526C,EEF1AKNMT:NM_014955:exon8:c.G1786T:p.G596C,EEF1AKNMT:NM_015935:exon8:c.G2044T:p.G682C	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0142771901878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256455729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.56456	D	0.043	0.51112	D	0.993	0.65571	D	0.843	0.60313	P	0.204207	0.16524	N	0.660669	1	0.08975	N	1.355	0.33814	L	1.52	0.30669	T	-1.28	0.39314	N	0.311	0.38541	-1.0524	0.13736	T	0.075	0.30117	T	10	0.22922844	0.39846	T	0.014277	0.34290	T	0.071	0.20720	0.466	0.53729	0.376570364461	0.37271	0.556806068002525	0.55607	0.39487166203	0.40640	0.362710565329	0.19780	T	0.025806	0.19224	T	-0.117578	0.33522	T	-0.406669	0.32609	T	0.303642332553864	0.25154	T	0.806219	0.45479	T	0.2447673	0.47429	0.08714719	0.20237	0.2447673	0.47429	0.08714719	0.20237	-5.361	0.40543	T	.	.	0.112	0.21987	B	.;.;.	.;.;.	2.735801	0.35818	20.0	0.99108363643453612	0.52648	0.35473	0.25310	N	AEFDBI	0.220269	0.34504	N	-0.103115753750504	0.37256	2.164999	-0.133307323767131	0.34056	1.954833	0.999974716734615	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.41	0.52588	1.893000	0.39391	6.684000	0.56320	0.676000	0.76740	0.042000	0.21073	1.000000	0.68203	0.993000	0.69303	0.0745:0.1312:0.6592:0.1352	6.181	0.19684	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	37	chr1	171796700	.	G	T	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=801;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.722;SOR=0.831	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1244	18	0	1	0
chr1	172441938	172441938	C	T	exonic	PIGC	.	nonsynonymous SNV	PIGC:NM_002642:exon2:c.G685A:p.V229M,PIGC:NM_153747:exon2:c.G685A:p.V229M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00548147630535	.	0.00139776	0.0013	0	0	0	0	1.499e-05	0.0011	0.0094	0.0011061	171	154602	rs201517616	0.0007	0.0007	0.0003	0.0010	0.0104	0.0006	0.0006	0.0099	0.0096	0	0	0	2.519e-05	0	0.0014	1.529e-05	0.0005	0.0104	0.0003	0.0004	0.0001	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0106	0.211	0.19569	T	0.213	0.26467	T	0.026	0.19406	B	0.01	0.14941	B	0.032802	0.24980	N	0.429920	1	0.81001	D	0.425	0.12573	N	0.72	0.50976	T	-0.76	0.21215	N	0.181	0.20129	-1.0904	0.05466	T	0.050	0.21104	T	10	0.0064476132	0.00146	T	0.005481	0.14106	T	0.128	0.35103	.	.	0.495103902096	0.49147	0.390145566168953	0.38929	0.178106842575	0.20035	0.601089119911	0.53057	T	0.031728	0.22174	T	-0.348655	0.04812	T	-0.265634	0.48261	T	0.0186891897037596	0.00582	T	0.823018	0.48339	T	0.10861672	0.25682	0.11163073	0.26928	0.11162281	0.26375	0.12535216	0.30203	-4.969	0.36501	T	0.2280594123345949	0.30839	0.091	0.12938	B	.;.	.;.	2.192426	0.27955	17.64	0.96723050565863344	0.30858	0.48899	0.28311	N	AEFDBCI	0.169192	0.29601	N	-0.243578318270333	0.31359	1.757647	-0.0802613298388776	0.36206	2.104163	0.999999323071089	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	0.785000	0.26491	4.053000	0.41524	0.599000	0.40250	0.325000	0.25546	0.999000	0.35428	0.979000	0.57723	0.0:0.9171:0.0:0.0829	11.360	0.48878	650	0.62973	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1760.33	110	chr1	172441938	.	C	T	1760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.978;DP=1820;ExcessHet=0;FS=1.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.339;SOR=0.552	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr1	172589659	172589659	T	C	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282751:exon16:c.T869C:p.L290S,SUCO:NM_016227:exon17:c.T3011C:p.L1004S,SUCO:NM_014283:exon18:c.T2558C:p.L853S	.	.	.	.	.	.	.	.	.	.	.	2879028	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00205147240893	.	.	4.146e-05	0	0	0	0	4.508e-05	0	0.0001	3.23e-05	5	154602	rs771443282	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0005	1.238e-05	1.052e-05	0.0001	7.541e-05	0	2.239e-05	0	0	0	0.0005	6.296e-06	4.968e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.931	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.257578	0.15381	N	0.625324	1	0.08975	N	1.245	0.31408	L	.	.	.	-0.24	0.10833	N	0.285	0.33030	-0.9678	0.37652	T	0.019	0.07939	T	9	0.05289665	0.05396	T	0.002051	0.03748	T	0.087	0.25287	.	.	0.226586394389	0.22295	0.19967654318831893	0.19884	0.20325364087	0.22742	0.312353134155	0.12262	T	0.100007	0.40539	T	-0.41227	0.01920	T	-0.593305	0.13382	T	0.0129610681906343	0.00224	T	0.573543	0.20534	T	0.056752305	0.11207	0.062234342	0.12145	0.056752305	0.11207	0.062234342	0.12145	-2.511	0.07269	T	.	.	0.070	0.03443	B	.;.;.;.	.;.;.;.	1.728832	0.22006	15.44	0.95379883548325262	0.26802	0.21500	0.21423	N	AEFGBHCI	0.039199	0.05659	N	-0.723827778685287	0.15354	0.7730089	-0.597989644290286	0.19545	1.049136	0.999966637075303	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.608884	0.39905	0	0.638787	0.57140	0	.	.	5.29	2.94	0.33188	0.769000	0.26267	0.002000	0.13306	0.665000	0.62972	0.455000	0.26605	0.000000	0.08366	0.993000	0.69303	0.0:0.2281:0.0:0.7719	7.946	0.29150	488	0.76887	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	40	chr1	172589659	.	T	C	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=758;ExcessHet=0;FS=6.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.36;SOR=1.278	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	18	0	1	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	2445.33	33	chr1	173207098	.	C	T	2445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=818;ExcessHet=0;FS=4.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.711;SOR=0.982	GT:AD:DP:GQ:PL	0/1:106,92:198:99:2459,0,2660	18	0	1	0
chr1	173524920	173524920	C	T	exonic	SLC9C2	.	nonsynonymous SNV	SLC9C2:NM_178527:exon20:c.G2373A:p.M791I	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00587598425813	7.7e-05	0.000199681	0.0005	0	8.663e-05	0	0	0.0004	0.0011	0.0019	0.0004528	70	154602	rs41265230	0.0006	0.0006	0.0005	0.0006	0.0021	0.0005	0.0005	0.0018	0.0017	0.0001	0.0001	0	0	1.872e-05	0.0009	0.0005	0.0005	0.0021	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0005	0.0009	0.0008	0.892	0.02471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002694	0.36102	N	0.242909	1	0.81001	D	-2.095	0.00157	N	3.9	0.03516	T	0.93	0.01551	N	0.217	0.24260	-1.0056	0.28277	T	0.001	0.00287	T	10	0.010384828	0.00231	T	0.005876	0.15281	T	0.039	0.10176	0.323	0.30387	0.0482279557977	0.04254	0.15347132111840742	0.15269	0.256899991829	0.28255	0.472858846188	0.35073	T	5.75E-4	0.00232	T	-0.672495	0.00053	T	-0.751999	0.03409	T	0.0101978160644971	0.00138	T	0.505249	0.15946	T	0.048559345	0.08483	0.05955811	0.11199	0.048559345	0.08482	0.05955811	0.11199	-0.719	0.00736	T	.	.	0.148	0.32709	B	.	.	0.124159	0.05210	1.720	0.3851584934251992	0.02602	0.08591	0.14499	N	AEFI	0.047308	0.07951	N	-1.16743894192085	0.05499	0.2508367	-0.945071199712004	0.11037	0.5598566	0.0180285420360005	0.13014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	0.802	0.17828	-0.031000	0.12237	-0.793000	0.07406	-0.218000	0.08083	0.995000	0.38783	0.020000	0.20764	0.173000	0.21076	0.1456:0.2434:0.0:0.611	3.941	0.08825	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1827.33	40	chr1	173524920	.	C	T	1827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=767;ExcessHet=0;FS=4.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.568;SOR=0.385	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	173811224	173811224	G	A	exonic	CENPL	.	nonsynonymous SNV	CENPL:NM_001171182:exon2:c.C76T:p.P26S,CENPL:NM_001127181:exon3:c.C76T:p.P26S,CENPL:NM_033319:exon3:c.C76T:p.P26S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00653197662814	0.0002	.	0.0002	0	0.0002	0	0	8.99e-05	0	0.0007	0.0001423	22	154602	rs139831401	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	0.0003	0.0002	0.0008	0	0	0.0012	5.938e-05	0.0004	0.0006	9.857e-05	9.85e-05	0.0001	8.071e-05	0.0001	6.007e-05	4.88e-05	4.764e-05	3.339e-05	4.826e-05	0	6.543e-05	0.0006	0	0	0	0.0001	0.0014	0	0.225	0.18626	T	0.195	0.28032	T	0.087	0.45299	B	0.09	0.35463	B	0.173580	0.17304	N	0.590904	0.959672	0.26177	N	2.14	0.59869	M	1.33	0.45248	T	-1.31	0.32791	N	0.44	0.47857	-1.0535	0.13440	T	0.029	0.12322	T	10	0.07098204	0.10401	T	0.006532	0.17215	T	0.040	0.10527	.	.	0.244449712813	0.24043	0.44278378927805434	0.44195	0.214648875101	0.24003	0.399474531412	0.24995	T	0.015129	0.12752	T	-0.401071	0.02278	T	-0.446295	0.28107	T	0.0287920323901568	0.01806	T	0.792521	0.43410	T	0.032892533	0.03400	0.044959664	0.05943	0.032892533	0.03400	0.044959664	0.05942	-3.945	0.24489	T	.	.	0.138	0.30211	B	.;.;.	.;.;.	1.945360	0.24712	16.50	0.76056679360307478	0.11316	0.58404	0.30633	D	AEFDBI	0.069867	0.13847	N	-0.420163103315536	0.24763	1.339414	-0.36371799665001	0.26088	1.438749	2.01789722475588E-4	0.05948	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.68	2.81	0.31971	1.902000	0.39479	5.527000	0.48837	-0.133000	0.13014	0.993000	0.37899	1.000000	0.68203	0.631000	0.32184	0.2888:0.0:0.7112:0.0	6.698	0.22396	168	0.93464	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	617.33	33	chr1	173811224	.	G	A	617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=692;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.277;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	173909585	173909585	C	T	exonic	SERPINC1	.	nonsynonymous SNV	SERPINC1:NM_000488:exon5:c.G1120A:p.D374N,SERPINC1:NM_001365052:exon6:c.G976A:p.D326N	Thrombophilia due to antithrombin III deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.076090894266	.	.	8.275e-06	0	8.658e-05	0	0	0	0	0	6.5e-06	1	154602	rs775413132	1.231e-05	1.231e-05	1.089e-05	1.375e-05	6.708e-05	7.7e-06	6.35e-06	1.779e-05	8.93e-06	0	6.708e-05	3.826e-05	0	0	0	1.169e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.041	0.50514	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.285	0.65182	M	-1.82	0.84047	D	-4.36	0.76980	D	0.765	0.76296	0.554	0.91287	D	0.740	0.91105	D	10	0.95698786	0.95068	D	0.076091	0.72447	D	0.618	0.85144	0.819	0.93262	0.851064378852	0.84963	0.7740523855108556	0.77355	0.828958284525	0.67545	0.550216257572	0.45888	T	0.85115	0.96614	D	0.000473715	0.51719	T	-0.237096	0.51083	T	0.989082932472229	0.79345	D	0.939006	0.77019	D	0.8974274	0.91154	0.69146323	0.81843	0.8974274	0.91156	0.69146323	0.81844	-7.063	0.54493	T	0.4297956168391957	0.51712	0.128	0.27343	B	.	.	4.958564	0.81967	27.7	0.99920305520986286	0.98721	0.99300	0.94167	D	AEFGI	0.909335	0.86584	D	0.707066558173561	0.80096	7.219159	0.634462958577888	0.77459	6.683333	0.999999997138741	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	5.718000	0.68103	7.709000	0.66702	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:1.0:0.0:0.0	18.688	0.91532	164	0.93620	Serpin domain|Serpin domain|Antithrombin serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	845.33	33	chr1	173909585	.	C	T	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=738;ExcessHet=0;FS=3.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-2.169;SOR=1.156	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr1	173938810	173938810	T	C	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon19:c.A3316G:p.S1106G,RC3H1:NM_001300851:exon19:c.A3289G:p.S1097G,RC3H1:NM_001300852:exon19:c.A3286G:p.S1096G,RC3H1:NM_172071:exon20:c.A3313G:p.S1105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00572657775482	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs766024336	8.211e-06	8.209e-06	1.362e-06	1.513e-05	0.0001	4.38e-06	3.46e-06	7.999e-05	6.238e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.029	0.58613	D	0.0	0.02946	B	0.0	0.01387	B	0.000021	0.62929	D	0.187317	0.835679	0.28700	N	0.55	0.14455	N	0.74	0.50721	T	-1.27	0.32185	N	0.077	0.22870	-1.0712	0.09151	T	0.029	0.12585	T	10	0.05720681	0.06534	T	0.005727	0.14862	T	0.113	0.31778	0.145	0.04843	0.4147015802	0.41088	0.15893310618103793	0.15814	0.287918106195	0.31194	0.35464066267	0.18602	T	0.112932	0.42958	T	-0.331695	0.05984	T	-0.51158	0.21152	T	0.237698271870613	0.22313	T	0.756024	0.38984	T	0.111738905	0.26403	0.123720296	0.29830	0.111738905	0.26402	0.123720296	0.29829	-5.401	0.41905	T	.	.	0.077	0.11510	B	.;.;.	.;.;.	2.694240	0.35175	19.83	0.99066275476843424	0.51621	0.69900	0.34372	D	AEFBI	0.073559	0.14716	N	-0.335858679884116	0.27796	1.52788	-0.164319012307656	0.32860	1.873795	0.794852906974327	0.24080	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.82	2.04	0.25787	0.485000	0.22033	1.595000	0.27551	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.999000	0.91618	0.1668:0.2828:0.0:0.5504	3.767	0.08150	165	0.93588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	352.33	40	chr1	173938810	.	T	C	352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.556;DP=674;ExcessHet=0;FS=6.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.462;SOR=1.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	18	0	1	0
chr1	173946813	173946813	C	T	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon15:c.G2761A:p.G921S,RC3H1:NM_001300851:exon15:c.G2761A:p.G921S,RC3H1:NM_001300852:exon15:c.G2761A:p.G921S,RC3H1:NM_172071:exon16:c.G2761A:p.G921S	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00573794266206	0.0038	0.00139776	0.0021	0.0010	0.0010	0	0.0002	0.0035	0	0.0004	0.0024838	384	154602	rs139674996	0.0044	0.0045	0.0045	0.0044	0.0055	0.0044	0.0043	0.0054	0.0053	0.0007	0.0011	3.829e-05	0	0.0002	0.0005	0.0055	0.0045	0.0004	0.0028	0.0028	0.0033	0.0024	0.0050	0.0026	0.0025	0.0046	0.0044	0.0011	0	0.0018	0	0	0.0003	0	0.0050	0.0033	0.0002	0.844	0.02782	T	0.916	0.03134	T	0.083	0.27304	B	0.004	0.14941	B	0.000592	0.43095	N	0.265527	0.996137	0.23105	N	1.06	0.26948	L	0.99	0.41750	T	-0.42	0.14588	N	0.259	0.29313	-0.9421	0.42282	T	0.018	0.07565	T	10	0.0057835877	0.00129	T	0.005738	0.14892	T	0.032	0.07718	.	.	0.339940258815	0.33601	0.47994538022142885	0.47914	0.297192746947	0.32101	0.300637483597	0.10496	T	0.047599	0.27770	T	-0.612945	0.00121	T	-0.649923	0.08960	T	0.000777497996572196	0.00007	T	0.739426	0.35812	T	0.032611288	0.03319	0.04641827	0.06466	0.032611288	0.03319	0.04641827	0.06466	-3.137	0.11726	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	0.247145	0.06266	2.723	0.5447230968798501	0.05145	0.25637	0.22758	N	AEFDBHCIJ	0.080734	0.16328	N	-1.33552692947092	0.03277	0.1461236	-1.30486084098787	0.04367	0.2058252	0.999930759274321	0.46732	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.45	-0.765	0.10468	-0.131000	0.10461	-0.721000	0.07705	-1.671000	0.00800	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.0:0.5892:0.0:0.4108	11.300	0.48536	168	0.93464	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	947.33	36	chr1	173946813	.	C	T	947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.638;SOR=0.755	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1206	18	0	1	0
chr1	175018501	175018501	G	A	exonic	MRPS14	.	stopgain	MRPS14:NM_022100:exon2:c.C121T:p.R41X	.	.	.	.	.	.	.	.	.	.	.	3798907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	4.126e-05	0	0	0	0	6.005e-05	0.0011	0	4.53e-05	7	154602	rs200414977	8.899e-05	8.893e-05	8.991e-05	8.806e-05	7.376e-05	7.627e-05	7.172e-05	6.06e-05	5.569e-05	2.992e-05	2.258e-05	0.0011	2.522e-05	0	0	7.376e-05	0.0002	2.324e-05	6.577e-05	6.569e-05	0.0001	2.694e-05	8.823e-05	3.52e-05	2.619e-05	3.763e-05	2.576e-05	0	0	0	0.0012	0	0	0	8.823e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370773	0.88105	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.900447	0.96972	36	0.98259234292169007	0.39649	0.82684	0.41878	D	AEFBI	0.268551	0.38502	N	0.0591084477657783	0.44562	2.728037	-0.205313058571359	0.31344	1.773023	0.956295545815882	0.28239	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	-4.33	0.03423	1.227000	0.32179	2.784000	0.34753	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0663:0.0741:0.2452:0.6144	7.944	0.29137	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1562.33	34	chr1	175018501	.	G	A	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=799;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.374;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	18	0	1	0
chr1	175085490	175085490	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon6:c.G1320T:p.R440S	.	427	1036	53	6	0	65	0.0304165	.	.	.	706885	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0043	0.00858626	0.0097	0.0003	0.0058	0	0.0024	0.0073	0.0228	0.0346	0.0077295	1195	154602	rs6664276	0.0066	0.0067	0.0058	0.0075	0.0296	0.0065	0.0065	0.0286	0.0283	0.0007	0.0057	0.0080	2.523e-05	0.0014	0.0186	0.0054	0.0077	0.0296	0.0055	0.0055	0.0053	0.0057	0.0309	0.0052	0.0051	0.0269	0.0253	0.0008	0.0308	0.0087	0.0081	0	0.0015	0.0204	0.0063	0.0066	0.0309	0.956	0.02116	T	0.829	0.11968	T	0.59	0.39078	P	0.25	0.39011	B	0.005966	0.32369	N	0.336036	0.601732	0.32544	D	1.435	0.35949	L	1.63	0.28002	T	-0.98	0.25986	N	0.381	0.50598	-1.0141	0.25625	T	0.032	0.13635	T	10	0.0054251254	0.00119	T	.	.	.	0.084	0.24469	0.34	0.33141	0.317084106153	0.31322	0.45807528365645644	0.45725	0.186432944156	0.20951	0.327108561993	0.14498	T	0.001212	0.00709	T	-0.504897	0.00536	T	-0.475713	0.24904	T	0.00896777639948186	0.00112	T	0.548745	0.18852	T	0.09944625	0.23469	0.09248311	0.21797	0.09944625	0.23469	0.09248311	0.21796	-4.779	0.34345	T	.	.	0.282	0.52227	B	.;.;.	.;.;.	1.756838	0.22349	15.58	0.37462397471296272	0.02470	0.56796	0.30209	D	AEFBI	0.309139	0.41553	N	-0.725968913115918	0.15295	0.7695202	-0.628736688381513	0.18756	1.003365	0.00126639096779767	0.08390	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	2.91	0.32903	0.435000	0.21228	1.463000	0.26696	-0.127000	0.13314	0.382000	0.26022	1.000000	0.68203	0.874000	0.41677	0.1436:0.1333:0.7231:0.0	7.738	0.27988	556	0.71678	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026210	0.000000	0.029891	0.020468	0.000000	0.068966	0.030675	0.026515	0.05263	3475.83	41	chr1	175085490	.	G	T	3475.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.73;DP=993;ExcessHet=0.119;FS=11.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.836;SOR=1.026	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1755	17	0	2	0
chr1	175117017	175117017	C	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon10:c.C2198A:p.A733D	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	.	0.0008	0.00359425	0.0021	9.694e-05	0.0015	0	0.0012	0.0010	0.0022	0.0096	0.0019275	298	154602	rs116663940	0.0012	0.0012	0.0009	0.0015	0.0090	0.0011	0.0011	0.0085	0.0083	2.987e-05	0.0012	0.0011	2.519e-05	0.0007	0.0049	0.0006	0.0013	0.0090	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0010	0.0079	0.0071	2.406e-05	0.0263	0.0016	0.0003	0	0.0004	0.0034	0.0011	0.0014	0.0102	0.024	0.47745	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000068	0.52346	D	0.122403	0.999956	0.52396	D	3.335	0.90898	M	0.4	0.57261	T	-2.4	0.52776	N	0.717	0.78737	-0.3079	0.74764	T	0.307	0.67731	T	10	0.010779977	0.00238	T	.	.	.	0.426	0.73372	.	.	0.913634663873	0.91276	0.7138783631517084	0.71330	0.596689010385	0.54897	0.48877799511	0.37268	T	0.014136	0.12091	T	-0.183193	0.23262	T	-0.0289556	0.68438	D	0.12631749296627	0.15038	T	0.935906	0.79334	D	0.2517723	0.48188	0.2385868	0.49185	0.2517723	0.48188	0.2385868	0.49184	-9.471	0.70678	D	.	.	0.502	0.66816	A	.;.;.	.;.;.	4.162377	0.62525	24.5	0.99618348440778315	0.75233	0.96461	0.69254	D	AEFDBCI	0.665075	0.63402	D	0.425556774493457	0.62831	4.505746	0.307738961474211	0.55992	3.762261	0.999999883480834	0.74766	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	5.37	4.44	0.53164	6.759000	0.74730	5.822000	0.50091	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.8519:0.1481:0.0	14.362	0.66342	674	0.60593	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.005435	0.002924	0.000000	0.000000	0.006098	0.022727	0.02632	4002.33	35	chr1	175117017	.	C	A	4002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.017;DP=974;ExcessHet=0;FS=3.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.812;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr1	175128633	175128633	G	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon15:c.G3217A:p.V1073I	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0147679843309	0.0016	.	0.0012	0	0.0004	0	0.0023	0.0019	0.0011	0	0.0011061	171	154602	rs150465850	0.0010	0.0010	0.0010	0.0011	0.0121	0.0010	0.0010	0.0099	0.0090	0.0004	0.0005	7.658e-05	0	0.0027	0.0121	0.0010	0.0013	6.963e-05	0.0015	0.0015	0.0016	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	4.814e-05	0	0.0005	0	0	0.0032	0.0204	0.0025	0.0043	0	0.456	0.08839	T	0.618	0.08961	T	0.003	0.11197	B	0.013	0.16460	B	0.000169	0.48594	D	0.180299	0.882048	0.28032	N	-0.185	0.04235	N	-1.35	0.80035	T	-0.51	0.15986	N	0.14	0.24135	-0.8785	0.49880	T	0.216	0.57758	T	10	0.012817264	0.00274	T	0.014768	0.35101	T	0.237	0.54074	.	.	0.856882856639	0.85549	0.12327195206864762	0.12253	0.0795081424943	0.08942	0.407216966152	0.26071	T	0.001226	0.00717	T	-0.500508	0.00568	T	-0.491455	0.23239	T	0.0408824924558636	0.03851	T	0.751925	0.37414	T	0.05371081	0.10204	0.04731296	0.06787	0.05371081	0.10204	0.04731296	0.06786	-4.303	0.28219	T	.	.	0.072	0.09094	B	.;.;.	.;.;.	2.053957	0.26112	17.00	0.89379125846162799	0.18746	0.71448	0.35017	D	AEFBI	0.178130	0.30539	N	-0.344478608060107	0.27475	1.50773	-0.108474945574158	0.35048	2.023066	0.999936263981071	0.46732	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.11	5.11	0.69188	1.419000	0.34400	6.618000	0.56110	-0.107000	0.15377	0.810000	0.29852	1.000000	0.68203	0.952000	0.50033	0.095:0.0:0.905:0.0	9.732	0.39532	669	0.61081	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.010101	0.020380	0.020468	0.000000	0.025862	0.003049	0.000000	0.02632	2548.33	38	chr1	175128633	.	G	A	2548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=883;ExcessHet=0;FS=4.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-1.018;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1322	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:61:99:.:.:1062,1140,2154:.	9	2	8	0
chr1	175406219	175406219	T	C	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon3:c.A496G:p.T166A	.	410	1091	17	4	0	25	0.0113276	.	.	.	226706	Inborn_genetic_diseases|Parkinson_disease|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.194	0.0196161415428	0.0039	0.000399361	0.0044	0.0006	0.0062	0	0.0021	0.0063	0.0022	0.0012	0.0041267	638	154602	rs147204644	0.0047	0.0047	0.0048	0.0047	0.0104	0.0047	0.0046	0.0083	0.0075	0.0008	0.0052	0.0098	0	0.0023	0.0104	0.0052	0.0053	0.0015	0.0040	0.0040	0.0042	0.0039	0.0059	0.0038	0.0037	0.0053	0.0051	0.0010	0.0077	0.0059	0.0072	0	0.0021	0.0274	0.0058	0.0071	0.0019	0.182	0.21801	T	0.398	0.15109	T	0.929	0.51690	P	0.404	0.44625	B	0.000001	0.62929	D	0.056010	0.999536	0.47451	D	1.265	0.31966	L	-0.15	0.65192	T	-1.45	0.35597	N	0.27	0.32921	-0.6210	0.63947	T	0.236	0.60258	T	10	0.010126919	0.00227	T	0.019616	0.42029	T	0.194	0.47447	.	.	0.503814114792	0.50018	0.23775031368350852	0.23689	0.2074211791	0.23197	0.375888466835	0.21673	T	0.316209	0.68777	T	-0.35415	0.04471	T	-0.275797	0.47233	T	0.0220171038726052	0.00910	T	0.844516	0.52185	T	0.18868846	0.40379	0.19583702	0.43282	0.18868846	0.40379	0.19583702	0.43281	-2.173	0.03911	T	.	.	0.069	0.02960	B	.;.	.;.	3.119742	0.42115	21.5	0.83340463580801472	0.14673	0.97095	0.72660	D	AEFDBI	0.666990	0.63527	D	0.253631753391221	0.53819	3.549246	0.259387853843333	0.53186	3.48873	0.999999912468027	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.13	5.13	0.69729	3.788000	0.55151	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	14.615	0.68140	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.014946	0.023529	0.050000	0.017241	0.015244	0.000000	0.02632	880.33	48	chr1	175406219	.	T	C	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-1.92;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1351	18	0	1	0
chr1	176594643	176594643	G	A	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon3:c.G1039A:p.V347M,PAPPA2:NM_021936:exon3:c.G1039A:p.V347M	.	430	1082	10	0	0	10	0.00459982	.	.	.	2806187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	.	0.0038	0.00279553	0.0044	0.0003	0.0007	0.0002	0.0009	0.0054	0.0011	0.0090	0.0043272	669	154602	rs138546816	0.0050	0.0050	0.0048	0.0051	0.0081	0.0049	0.0048	0.0076	0.0074	0.0006	0.0014	0.0096	5.038e-05	0.0011	0.0064	0.0053	0.0046	0.0081	0.0036	0.0036	0.0039	0.0033	0.0087	0.0034	0.0033	0.0066	0.0059	0.0011	0.0132	0.0020	0.0118	0.0002	0.0006	0.0034	0.0054	0.0019	0.0087	0.588	0.12187	T	0.178	0.29639	T	0.015	0.17086	B	0.01	0.14941	B	0.012827	0.29040	N	0.371406	1	0.08975	N	0.255	0.09829	N	-0.76	0.73417	T	-0.39	0.13611	N	0.098	0.08925	-1.0075	0.27696	T	0.093	0.35390	T	10	0.006326735	0.00143	T	.	.	.	0.042	0.11227	.	.	0.464098490096	0.46036	0.4806798858865983	0.47987	0.178233127683	0.20055	0.294637143612	0.09605	T	0.131009	0.46025	T	-0.58703	0.00175	T	-0.60303	0.12557	T	4.24058853241149e-05	0.00000	T	0.592541	0.21854	T	0.026752384	0.01773	0.040653277	0.04443	0.026752384	0.01773	0.040653277	0.04442	-4.364	0.29064	T	.	.	0.086	0.10787	B	.;.	.;.	0.028649	0.04484	1.196	0.20407946607438282	0.00732	0.13846	0.18084	N	AEFBI	0.120437	0.23461	N	-1.44991946005142	0.02217	0.09766413	-1.42753145219744	0.02979	0.1381345	1.65766257552573E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-1.81	0.07456	0.271000	0.18390	0.115000	0.14837	-0.560000	0.04857	0.009000	0.18154	0.000000	0.08366	0.053000	0.15439	0.2619:0.0:0.5296:0.2085	7.109	0.24558	669	0.61081	.;LamG-like jellyroll fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.015152	0.02632	2624.33	203	chr1	176594643	.	G	A	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=833;ExcessHet=0;FS=1.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.662;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	18	0	1	0
chr1	176710175	176710175	T	C	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon11:c.T3650C:p.L1217P	.	439	1059	23	1	0	25	0.0116659	0.0002	0.024	.	696287	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.094	.	0.0021	0.00359425	0.0049	0.0003	0.0009	0.0002	0.0032	0.0019	0.0068	0.0262	0.0042173	652	154602	rs61745526	0.0030	0.0030	0.0024	0.0036	0.0230	0.0029	0.0029	0.0222	0.0219	0.0002	0.0012	0.0048	5.039e-05	0.0031	0.0040	0.0017	0.0031	0.0230	0.0022	0.0022	0.0020	0.0024	0.0170	0.0020	0.0019	0.0141	0.0130	0.0003	0	0.0025	0.0058	0	0.0027	0.0034	0.0021	0.0028	0.0170	0.139	0.25768	T	0.113	0.36901	T	0.459	0.36338	P	0.112	0.31615	B	0.000784	0.41772	D	0.292946	0.993073	0.41828	D	1.1	0.28011	L	4.73	0.01620	T	-0.02	0.07299	N	0.451	0.48872	-0.7085	0.60026	T	0.005	0.01578	T	10	0.005887717	0.00132	T	.	.	.	0.094	0.27141	.	.	0.307016933798	0.30308	0.708437537603531	0.70785	0.394741684332	0.40623	0.275438189507	0.06865	T	0.06599	0.32829	T	-0.522437	0.00426	T	-0.504968	0.21832	T	0.0113079434055903	0.00167	T	0.475152	0.14192	T	0.05695342	0.11272	0.07811483	0.17466	0.05695342	0.11271	0.07811483	0.17466	-4.195	0.26679	T	.	.	0.128	0.27252	B	.	.	2.359567	0.30260	18.38	0.98010147429630201	0.37551	0.68985	0.34011	D	AEFI	0.201366	0.32803	N	-0.344567882057387	0.27471	1.50752	-0.262300668550359	0.29350	1.643689	2.80146031325879E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	1.94	0.25058	0.579000	0.23490	2.451000	0.32813	-0.157000	0.11712	0.993000	0.37899	1.000000	0.68203	0.687000	0.33748	0.2441:0.094:0.1374:0.5245	1.382	0.02099	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.006098	0.015152	0.02632	1190.33	33	chr1	176710175	.	T	C	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.691;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	18	0	1	0
chr1	176740132	176740132	A	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon14:c.A4087G:p.I1363V	.	0	225	1	0	0	1	0.00221729	.	.	.	2377572	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00325546052337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774781008	3.147e-05	3.147e-05	3.131e-05	3.163e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.546e-05	0	0	0	0	0	0.0005	3.328e-05	8.281e-05	1.159e-05	6.578e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.447	0.09075	T	0.451	0.12920	T	0.008	0.14655	B	0.007	0.12992	B	0.309373	0.14460	N	0.720722	1	0.08975	N	2.56	0.74772	M	4.81	0.01516	T	-0.51	0.15986	N	0.038	0.01203	-0.9321	0.43829	T	0.005	0.01833	T	10	0.063767046	0.08357	T	0.003255	0.07177	T	0.018	0.03083	0.257	0.19845	0.223146558224	0.21909	0.23964132459394108	0.23878	0.1419555979	0.16002	0.230153217912	0.01979	T	0.100639	0.40663	T	-0.40356	0.02194	T	-0.801976	0.01853	T	0.0636534243822098	0.07730	T	0.189081	0.01998	T	0.028946277	0.02311	0.02458898	0.00481	0.028946277	0.02311	0.02458898	0.00481	-2.459	0.05507	T	.	.	0.078	0.06990	B	.	.	-0.429720	0.02104	0.198	0.29079189425332436	0.01525	0.16816	0.19562	N	AEFI	0.084992	0.17228	N	-1.30039324251119	0.03671	0.1644246	-1.3354621797379	0.03980	0.1867912	1.30318661568765E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	-1.04	0.09555	0.753000	0.26042	0.443000	0.18445	-2.752000	0.00197	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.4653:0.263:0.1449:0.1268	1.644	0.02591	726	0.54788	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2238.33	38	chr1	176740132	.	A	G	2238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.086;DP=855;ExcessHet=0;FS=6.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.022;SOR=0.376	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1485	18	0	1	0
chr1	176882938	176882938	T	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon20:c.A3283C:p.M1095L,ASTN1:NM_001364856:exon20:c.A3307C:p.M1103L,ASTN1:NM_004319:exon20:c.A3283C:p.M1095L,ASTN1:NM_207108:exon20:c.A3283C:p.M1095L	.	433	1079	10	0	0	10	0.00461255	.	.	.	432205	Abnormal_corpus_callosum_morphology|not_provided	Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0219076341437	0.0028	0.00179712	0.0034	0.0002	0.0005	0.0001	0.0008	0.0042	0.0011	0.0074	0.0034152	528	154602	rs151246825	0.0038	0.0038	0.0037	0.0039	0.0073	0.0037	0.0037	0.0065	0.0063	0.0002	0.0013	0.0098	0	0.0009	0.0073	0.0039	0.0036	0.0069	0.0027	0.0027	0.0030	0.0025	0.0075	0.0025	0.0024	0.0056	0.0049	0.0006	0.0154	0.0010	0.0121	0	0.0006	0	0.0040	0.0038	0.0075	0.088	0.32453	T	0.462	0.12920	T	0.257	0.31412	B	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.16	0.38073	T	-0.74	0.21215	N	0.626	0.73105	-0.8932	0.48650	T	0.149	0.47522	T	10	0.007880479	0.00179	T	0.021908	0.44740	T	0.244	0.55061	0.117	0.02508	0.372124015043	0.36827	0.4848574118172497	0.48405	0.549024000067	0.51818	0.6371986866	0.58165	T	0.047437	0.27724	T	-0.266181	0.12185	T	-0.144739	0.59705	T	0.039071109360196	0.03523	T	0.892511	0.62902	D	.	.	.	.	.	.	.	.	0.359	0.00303	T	.	.	0.200	0.47976	B	.;.;.	.;.;.	3.680631	0.52392	23.2	0.98164354846962953	0.38806	0.97791	0.77159	D	AEFBI	0.907875	0.86244	D	0.276562724713296	0.54964	3.660826	0.380292540366266	0.60350	4.221636	0.999999939014487	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.603000	0.82048	7.877000	0.72286	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.563	0.76010	678	0.60190	Fibronectin type III;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.005435	0.002924	0.000000	0.000000	0.012195	0.011364	0.02632	1942.33	170	chr1	176882938	.	T	G	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=813;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.039;SOR=1.006	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1339	18	0	1	0
chr1	177032795	177032795	T	C	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon3:c.A526G:p.T176A,ASTN1:NM_001364856:exon3:c.A526G:p.T176A,ASTN1:NM_004319:exon3:c.A526G:p.T176A,ASTN1:NM_207108:exon3:c.A526G:p.T176A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0160085033899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	0.682	0.06090	T	0.99	0.63424	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	2.5	0.14408	T	-1.02	0.28290	N	0.357	0.43223	-1.1142	0.02733	T	0.053	0.22307	T	10	0.23836967	0.40956	T	0.016009	0.37051	T	0.241	0.54641	0.24	0.17218	0.662834512758	0.66000	0.7081867532949196	0.70760	0.497348580915	0.48234	0.866027235985	0.91996	D	0.03662	0.24171	T	0.117577	0.66128	D	-0.0688847	0.65706	T	0.833665251731873	0.48818	D	0.884012	0.61335	D	.	.	.	.	.	.	.	.	-7.348	0.56536	T	.	.	0.374	0.62951	A	.;.;.	.;.;.	3.918429	0.57191	23.8	0.96684288777210536	0.30711	0.95588	0.65322	D	AEFGBI	0.751048	0.69197	D	0.365750492848391	0.59576	4.138153	0.421590821260553	0.62912	4.514948	0.99999999997662	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	5.123000	0.64543	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.313	0.73761	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2743.33	43	chr1	177032795	.	T	C	2743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=844;ExcessHet=0;FS=1.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.501;SOR=0.561	GT:AD:DP:GQ:PL	0/1:97,102:199:99:2757,0,2524	18	0	1	0
chr1	177229913	177229913	C	T	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon2:c.C37T:p.R13W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00268277860056	0.0002	0.000399361	9.494e-05	0.0010	8.693e-05	0	0	0	0	0	9.06e-05	14	154602	rs200249029	3.095e-05	3.147e-05	3.827e-05	2.354e-05	0.0009	2.36e-05	2.106e-05	0.0007	0.0006	0.0009	6.821e-05	0	0	0	0.0002	3.613e-06	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0003	0	0	0	0	0	0	0	0.234	0.18061	T	0.014	0.62352	D	0.001	0.07471	B	0.0	0.01387	B	0.671850	0.06041	N	1.171970	1	0.08975	N	1.445	0.36358	L	2.49	0.14531	T	0.49	0.02993	N	0.168	0.17828	-0.9758	0.35948	T	0.014	0.05753	T	10	0.009442836	0.00213	T	0.002683	0.05492	T	0.011	0.01250	.	.	0.110392049598	0.10638	0.538714109826699	0.53796	0.278538947095	0.30337	0.472034454346	0.34960	T	0.008499	0.07800	T	-0.604016	0.00138	T	-0.70788	0.05405	T	0.0222445979958029	0.00936	T	0.772023	0.40277	T	0.04932138	0.08740	0.040631924	0.04436	0.04932138	0.08740	0.040631924	0.04436	-4.533	0.31318	T	.	.	0.074	0.04889	B	.	.	0.162355	0.05527	1.988	0.87411426970248807	0.17208	0.06788	0.12811	N	AEFDGHI	0.088196	0.17880	N	-1.51943531644597	0.01722	0.07536957	-1.54342407067947	0.02022	0.09238848	0.888028031982849	0.25779	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.7	-3.5	0.04411	-2.822000	0.00817	-0.172000	0.11217	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.344000	0.25523	0.2233:0.249:0.3275:0.2002	1.294	0.01941	729	0.54495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1658.33	64	chr1	177229913	.	C	T	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=799;ExcessHet=0;FS=8.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.049;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1218	18	0	1	0
chr1	177281367	177281367	T	A	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon8:c.T2191A:p.S731T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0252072680318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.97	0.56973	D	0.681	0.53500	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	2.08	0.20255	T	-1.88	0.43906	N	0.583	0.60410	-0.9265	0.44645	T	0.133	0.44484	T	10	0.34459049	0.51449	T	0.025207	0.48187	D	0.172	0.43662	0.198	0.11110	0.082315109003	0.07666	0.791977755482779	0.79149	0.848795170264	0.68431	0.68205344677	0.64563	T	0.077958	0.35778	T	-0.0698304	0.41355	T	-0.338083	0.40561	T	0.952427387237549	0.63788	D	0.749925	0.37107	T	0.4438098	0.63647	0.4876372	0.70350	0.4438098	0.63648	0.4876372	0.70350	-3.885	0.22077	T	.	.	0.564	0.67394	P	.	.	4.602127	0.72904	25.9	0.9950416025628388	0.68206	0.94650	0.61861	D	AEFBI	0.676698	0.64165	D	0.581487451056986	0.72020	5.740412	0.566364937883489	0.72543	5.826563	0.994538411906765	0.33682	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	6.064000	0.70804	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.468	0.67075	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2425.33	36	chr1	177281367	.	T	A	2425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=835;ExcessHet=0;FS=7.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.41;SOR=1.14	GT:AD:DP:GQ:PL	0/1:85,92:177:99:2439,0,1991	18	0	1	0
chr1	177939725	177939725	G	A	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon17:c.C1157T:p.S386L,SEC16B:NM_033127:exon18:c.C2180T:p.S727L,CRYZL2P-SEC16B:NM_001356506:exon24:c.C2180T:p.S727L,CRYZL2P-SEC16B:NM_001356505:exon26:c.C2180T:p.S727L	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0008	0.00359425	0.0007	0.0061	0.0008	0	0	0.0001	0	0	0.0004592	71	154602	rs12074076	0.0003	0.0003	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	0	0	0.0021	5.532e-05	0.0007	0.0001	0.0016	0.0016	0.0015	0.0016	0.0049	0.0014	0.0013	0.0044	0.0041	0.0049	0	0.0014	0	0	0	0	7.351e-05	0.0033	0.0002	0.173	0.22573	T	0.497	0.11299	T	0.003	0.11197	B	0.001	0.04355	B	0.153702	0.02983	N	1.657110	1	0.08975	N	1.295	0.32453	L	2.4	0.15608	T	-1.29	0.32387	N	0.063	0.03502	-1.0258	0.21821	T	0.009	0.03271	T	10	0.0039038062	0.00074	T	.	.	.	0.047	0.12962	.	.	0.167679373172	0.16340	0.14825459161405144	0.14747	0.0361349943124	0.03815	0.272900462151	0.06523	T	0.007829	0.07211	T	-0.740504	0.00020	T	-0.836055	0.01160	T	0.00180212191713534	0.00018	T	0.488951	0.15001	T	0.03250671	0.03290	0.044676922	0.05841	0.03250671	0.03290	0.044676922	0.05841	-4.376	0.29230	T	.	.	0.065	0.01859	B	.	.	0.221157	0.06035	2.477	0.71654630811542386	0.09703	0.01237	0.04368	N	AEFBI	0.136291	0.25691	N	-1.16447069612799	0.05545	0.2530986	-1.25518267453229	0.05054	0.2399495	0.757080638561288	0.23451	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.07	-4.96	0.02812	-0.292000	0.08368	-0.467000	0.09002	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.53:0.1263:0.2079:0.1358	2.779	0.05027	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.005051	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	488.33	42	chr1	177939725	.	G	A	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=734;ExcessHet=0;FS=3.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.04;SOR=0.252	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr1	177942015	177942015	C	T	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon15:c.G884A:p.R295H,SEC16B:NM_033127:exon16:c.G1907A:p.R636H,CRYZL2P-SEC16B:NM_001356506:exon22:c.G1907A:p.R636H,CRYZL2P-SEC16B:NM_001356505:exon24:c.G1907A:p.R636H	.	418	1101	3	0	0	3	0.00136054	.	.	.	2333806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.312	0.00881107065941	.	0.000199681	0.0003	0.0002	0.0010	0	0.0003	0.0002	0.0011	6.203e-05	0.0002781	43	154602	rs149895580	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0020	0.0017	0.0004	0.0007	3.826e-05	0	0.0002	0.0031	0.0002	0.0003	4.64e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0005	0	0.0005	0	0	0.0003	0.0136	0.0002	0.0005	0.0002	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999996	0.58761	D	2.57	0.75187	M	2.22	0.18248	T	-4.83	0.80943	D	0.797	0.79310	-1.0107	0.26698	T	0.115	0.40897	T	10	0.4099046	0.56152	T	0.008811	0.23245	T	0.312	0.63375	.	.	0.579040693538	0.57574	0.6254638049979656	0.62479	0.305292617041	0.32830	0.582382440567	0.50420	T	0.086776	0.37799	T	-0.0682039	0.41614	T	0.0365176	0.72701	D	0.905131280422211	0.55879	D	0.935806	0.75965	D	0.5932958	0.72329	0.49210137	0.70621	0.5932958	0.72330	0.49210137	0.70621	-9.273	0.69437	D	.	.	0.142	0.31253	B	.	.	5.427744	0.90780	31	0.99946242809687935	0.99901	0.95659	0.65613	D	AEFDGBI	0.720343	0.67094	D	0.815098091516418	0.87043	9.083171	0.790280009064033	0.89109	9.842083	0.999998034640968	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.66	5.66	0.87293	4.283000	0.58770	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9135:0.0:0.0865	10.706	0.45151	847	0.35998	Ancestral coatomer element 1, Sec16/Sec31	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1786.33	34	chr1	177942015	.	C	T	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.358;SOR=0.753	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1477	18	0	1	0
chr1	178094677	178094677	G	C	exonic	RASAL2	.	nonsynonymous SNV	RASAL2:NM_170692:exon1:c.G185C:p.S62T	.	427	1092	3	0	0	3	0.00137174	.	.	.	3312284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00232213067589	.	.	0.0003	0.0001	0.0009	0	0	0.0003	0.0012	0	0.0003234	50	154602	rs144829800	0.0003	0.0003	0.0003	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0003	0.0008	0	0	5.631e-05	0.0035	0.0003	0.0005	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0.0068	0.0003	0.0057	0	0.029	0.45756	D	0.119	0.36101	T	.	.	.	.	.	.	0.003882	0.34365	N	0.200016	0.791572	0.29219	N	.	.	.	2.05	0.20664	T	-0.72	0.20358	N	0.166	0.17553	-1.0712	0.09151	T	0.033	0.14334	T	10	0.04786232	0.04159	T	0.002322	0.04479	T	0.035	0.08770	.	.	0.152612264143	0.14878	0.4252717431345127	0.42444	0.205719085667	0.22994	0.735093355179	0.72252	T	.	.	.	-0.477028	0.00770	T	-0.541026	0.18196	T	0.0440798290073872	0.04435	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.837	0.35019	T	.	.	0.214	0.44267	B	.	.	4.116773	0.61501	24.3	0.97699432275333453	0.35424	0.81996	0.41294	D	ALL	0.573530	0.57668	D	-0.0922706292011575	0.37730	2.199405	0.0599635199434876	0.42555	2.576032	0.999999999911429	0.74766	0.542737	0.22433	0	0.491552	0.07993	0	0.685571	0.62057	0	0.372554	0.06265	0	.	.	3.89	3.89	0.44098	3.616000	0.53915	11.600000	0.93469	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	13.239	0.59416	694	0.58444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.030303	0.001359	0.008772	0.000000	0.000000	0.006098	0.000000	0.02632	921.33	34	chr1	178094677	.	G	C	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=742;ExcessHet=0;FS=4.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.25;SOR=0.348	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1436	18	0	1	0
chr1	179108280	179108280	G	C	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.C2924G:p.P975R,ABL2:NM_001168238:exon12:c.C2615G:p.P872R,ABL2:NM_001168239:exon12:c.C2570G:p.P857R,ABL2:NM_005158:exon12:c.C2942G:p.P981R,ABL2:NM_007314:exon12:c.C2987G:p.P996R,ABL2:NM_001136000:exon13:c.C2633G:p.P878R,ABL2:NM_001168237:exon13:c.C2678G:p.P893R	Leukemia, acute myeloid, with eosinophilia (1)	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	0.0007	0.00519169	0.0032	0	0.0002	0.0250	0.0054	0.0013	0.0022	0.0027	0.0028331	438	154602	rs28913890	0.0016	0.0016	0.0016	0.0016	0.0236	0.0015	0.0015	0.0224	0.0219	8.961e-05	0.0004	0.0005	0.0236	0.0052	0.0005	0.0006	0.0018	0.0032	0.0016	0.0017	0.0014	0.0018	0.0229	0.0015	0.0014	0.0195	0.0183	9.628e-05	0	0.0005	0.0017	0.0229	0.0038	0	0.0009	0.0005	0.0025	0.007	0.68238	D	0.554	0.25135	T	0.999	0.90584	D	0.952	0.74454	D	0.044510	0.23631	N	0.299003	0.583504	0.31080	N	0.55	0.14455	N	-1.09	0.78860	T	-0.96	0.43524	N	0.238	0.42639	-0.1567	0.78752	T	0.345	0.70980	T	10	0.004825115	0.00102	T	.	.	.	0.246	0.55340	.	.	0.935656210754	0.93499	0.144452615564249	0.14368	0.270108457044	0.29533	0.401100724936	0.25221	T	0.119907	0.44177	T	-0.368798	0.03655	T	-0.283605	0.46435	T	0.0442241428594562	0.04461	T	0.905509	0.66687	D	0.07240628	0.16103	0.077165	0.17164	0.07240628	0.16103	0.077165	0.17163	-4.564	0.34310	T	.	.	0.135	0.44796	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.222508	0.43917	21.8	0.9970370742458029	0.80798	0.96549	0.69696	D	AEFDBHCI	0.613123	0.60094	D	0.398415502198905	0.61338	4.333323	0.434318903133604	0.63716	4.611026	0.99999999996752	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	4.884000	0.62827	6.260000	0.55343	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:1.0:0.0	15.691	0.77215	488	0.76887	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1117.33	33	chr1	179108280	.	G	C	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=728;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.897;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	0	1	0
chr1	179142975	179142975	G	T	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001136000:exon1:c.C70A:p.L24M,ABL2:NM_001168239:exon1:c.C70A:p.L24M,ABL2:NM_005158:exon1:c.C70A:p.L24M	Leukemia, acute myeloid, with eosinophilia (1)	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.0109824	0.0067	0.0001	0.0006	0	0	7.494e-05	0.0011	0.0480	0.0057179	884	154602	rs202125612	0.0029	0.0029	0.0015	0.0042	0.0455	0.0028	0.0028	0.0443	0.0438	5.974e-05	8.944e-05	3.827e-05	2.519e-05	0	0.0007	6.565e-05	0.0028	0.0455	0.0015	0.0016	0.0008	0.0023	0.0477	0.0014	0.0013	0.0426	0.0407	7.218e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0477	0.05	0.39575	D	0.229	0.44106	T	0.001	0.12996	B	0.004	0.14300	B	.	.	.	.	1	0.81001	D	.	.	.	-0.94	0.75438	T	-0.33	0.14000	N	0.252	0.30233	-0.4926	0.68916	T	0.443	0.78014	T	8	0.0033200681	0.00057	T	.	.	.	0.151	0.39764	.	.	0.566372544126	0.56301	.	.	.	.	0.299717366695	0.10359	T	.	.	.	-0.433076	0.01421	T	-0.358355	0.38243	T	0.0212990671265439	0.00832	T	0.408659	0.11777	T	.	.	.	.	.	.	.	.	-5.762	0.45333	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	0.470252	0.08397	5.153	0.9679132504787068	0.31113	0.22449	0.21750	N	ALL	0.226394	0.35035	N	-0.339868788388351	0.27645	1.518464	-0.33240103306098	0.27059	1.498859	0.999999999997922	0.74766	0.441713	0.08003	0	0.491513	0.07743	0	0.55458	0.18720	0	0.56214	0.19341	0	.	.	5.34	4.41	0.52588	0.241000	0.17843	0.877000	0.22363	0.676000	0.76740	0.230000	0.24643	0.599000	0.25709	0.185000	0.21450	0.0:0.0:0.8304:0.1696	12.320	0.54300	516	0.74704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006054	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.022727	0.02632	1263.33	35	chr1	179142975	.	G	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=723;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.49;SOR=0.47	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	18	0	1	0
chr1	179445199	179445199	A	G	exonic	AXDND1	.	nonsynonymous SNV	AXDND1:NM_144696:exon16:c.A1793G:p.D598G	.	1	224	1	0	0	1	0.00222717	.	.	.	3294345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0084189837111	0.0002	0.000199681	4.735e-05	0.0003	0	0	0	4.312e-05	0	0	3.23e-05	5	154602	rs145068225	5.741e-05	5.612e-05	4.708e-05	6.786e-05	0.0039	4.696e-05	4.35e-05	0.0027	0.0023	0.0010	5.025e-05	0	0	0	0.0039	1.313e-05	0.0002	2.567e-05	8.541e-05	8.531e-05	7.713e-05	9.405e-05	0.0002	4.956e-05	3.962e-05	0.0001	9.917e-05	0.0002	0	0	0	0	0	0	4.414e-05	0	0	0.007	0.59928	D	0.011	0.64786	D	0.999	0.77913	D	0.941	0.67658	D	0.006566	0.31942	N	0.351085	0.999997	0.08975	N	2.215	0.62545	M	2.17	0.19166	T	-3.99	0.73893	D	0.666	0.67477	-0.9823	0.34468	T	0.119	0.41648	T	10	0.22601306	0.39446	T	0.008419	0.22282	T	0.174	0.44019	.	.	0.390374949789	0.38653	0.21080033038364202	0.20996	0.0486109836522	0.05311	0.529408931732	0.42951	T	0.080204	0.36309	T	-0.32852	0.06224	T	-0.419529	0.31129	T	0.684593856334686	0.39999	D	0.763824	0.39073	T	0.30771142	0.53587	0.34869105	0.60505	0.30771142	0.53587	0.34869105	0.60505	-5.103	0.37939	T	.	.	0.445	0.61973	A	.;.	.;.	4.506743	0.70541	25.5	0.99688228620229713	0.79775	0.91340	0.53336	D	AEFI	0.526264	0.54869	D	0.297202066087977	0.56005	3.764871	0.280925086985247	0.54428	3.607658	0.0138725845800846	0.12522	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	5.163000	0.64791	11.058000	0.85397	0.743000	0.86499	0.998000	0.41325	1.000000	0.68203	0.384000	0.26424	1.0:0.0:0.0:0.0	12.558	0.55613	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003532	0.000000	0.006812	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	512.33	29	chr1	179445199	.	A	G	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=617;ExcessHet=0;FS=1.231;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.825;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	179557056	179557056	C	G	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_014625:exon5:c.G709C:p.E237Q	Nephrotic syndrome, type 2, Autosomal recessive	2	1503	17	0	0	17	0.00562355	.	.	.	587964	NPHS2-related_disorder|not_specified|Steroid-resistant_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|Nephrotic_syndrome,_type_2|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.530	0.3287275204	0.0007	0.000199681	0.0007	0.0001	0.0004	0	0	0.0012	0.0023	6.337e-05	0.0006274	97	154602	rs146906190	0.0005	0.0005	0.0005	0.0006	0.0168	0.0005	0.0005	0.0141	0.0131	0.0002	0.0002	0.0091	0	1.874e-05	0.0168	0.0003	0.0013	0.0002	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	7.215e-05	0	0.0001	0.0072	0	0	0.0068	0.0004	0.0005	0.0006	0.027	0.46513	D	0.122	0.35710	T	0.774	0.44062	P	0.688	0.53700	P	0.000178	0.48594	D	0.180712	0.999999	0.81001	D	1.5	0.37844	L	-3.25	0.93532	D	-2.33	0.51646	N	0.537	0.56489	0.684	0.92980	D	0.799	0.93202	D	10	0.02762732	0.00905	T	0.328728	0.91688	D	0.530	0.80188	.	.	0.874070014769	0.87284	0.6292540068133019	0.62858	0.911401186094	0.71076	0.638917267323	0.58409	T	0.682374	0.90686	D	-0.135093	0.30675	T	-0.0653857	0.65953	T	0.122046880424023	0.14628	T	0.90231	0.65919	D	0.3092608	0.53722	0.21670994	0.46309	0.4156782	0.61803	0.24765548	0.50299	-6.487	0.50186	T	0.3020028723557032	0.39941	0.156	0.34470	B	.	.	4.520493	0.70871	25.6	0.9983389268589602	0.91542	0.96063	0.67365	D	AEFGBI	0.681745	0.64499	D	0.52061191082589	0.68311	5.200	0.600863106300951	0.75001	6.234219	0.999857949924407	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	4.470000	0.59908	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.918	0.92484	549	0.72275	Band 7 domain|Band 7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.015306	0.013587	0.038012	0.000000	0.017241	0.000000	0.003788	0.02632	1688.33	33	chr1	179557056	.	C	G	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=748;ExcessHet=0;FS=1.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.483;SOR=0.949	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr1	179640414	179640414	C	T	exonic	TDRD5	.	nonsynonymous SNV	TDRD5:NM_001199092:exon8:c.C434T:p.P145L,TDRD5:NM_001199085:exon11:c.C1769T:p.P590L,TDRD5:NM_001199089:exon11:c.C1769T:p.P590L,TDRD5:NM_001199091:exon11:c.C1769T:p.P590L,TDRD5:NM_001349923:exon11:c.C1769T:p.P590L,TDRD5:NM_173533:exon11:c.C1769T:p.P590L	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0094327924169	0.0049	0.00179712	0.0044	0.0014	0.0039	0	0.0002	0.0065	0.0033	0.0020	0.0043208	668	154602	rs147735255	0.0055	0.0055	0.0055	0.0055	0.0064	0.0054	0.0054	0.0061	0.0060	0.0009	0.0049	0.0153	0	0.0006	0.0064	0.0062	0.0049	0.0015	0.0038	0.0038	0.0041	0.0035	0.0056	0.0036	0.0035	0.0052	0.0050	0.0010	0	0.0048	0.0144	0	0.0006	0.0068	0.0056	0.0090	0.0021	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000033	0.55875	D	0.121923	1	0.81001	D	1.85	0.49092	L	3.02	0.08986	T	-5.79	0.88065	D	0.818	0.85979	-1.2374	0.00019	T	0.047	0.20275	T	10	0.012922168	0.00276	T	0.009433	0.24716	T	0.261	0.57352	.	.	0.165150595986	0.16160	0.8111115061867887	0.81066	0.790710806441	0.65771	0.685521006584	0.65062	T	0.178917	0.52973	T	-0.271442	0.11597	T	-0.154723	0.58823	T	0.0180770275562071	0.00530	T	0.948505	0.82243	D	0.55144185	0.70036	0.63792926	0.78855	0.55144185	0.70037	0.63792926	0.78856	-9.633	0.73124	D	.	.	0.744	0.76129	P	.;.;.;.	.;.;.;.	4.927809	0.81218	27.5	0.99896325867876301	0.96895	0.96193	0.67962	D	AEFBI	0.698227	0.65597	D	0.771969629526689	0.84325	8.25668	0.777615321388091	0.88196	9.492901	0.419231557413863	0.20277	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	4.947000	0.63283	7.560000	0.60459	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.804	0.85485	546	0.72524	Tudor domain;.;Tudor domain;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1099.33	35	chr1	179640414	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=722;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=2.15;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr1	179814026	179814026	C	T	exonic	FAM163A	.	nonsynonymous SNV	FAM163A:NM_001329712:exon5:c.C341T:p.P114L,FAM163A:NM_001329715:exon5:c.C341T:p.P114L,FAM163A:NM_001329718:exon5:c.C341T:p.P114L,FAM163A:NM_001329719:exon5:c.C341T:p.P114L,FAM163A:NM_173509:exon5:c.C341T:p.P114L,FAM163A:NM_001329713:exon6:c.C341T:p.P114L,FAM163A:NM_001329717:exon6:c.C341T:p.P114L,FAM163A:NM_001329714:exon7:c.C341T:p.P114L,FAM163A:NM_001329716:exon7:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.014904072448	.	0.000199681	3.317e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs573470357	1.027e-05	1.026e-05	5.447e-06	1.514e-05	0.0002	6.17e-06	4.89e-06	9.798e-05	7.844e-05	0	0	0	0	0	0	0	1.657e-05	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.094	0.31383	T	0.458	0.12668	T	0.557	0.38282	P	0.215	0.37512	B	0.000801	0.41772	D	0.000000	0.997388	0.43845	D	1.04	0.26193	L	.	.	.	-1.49	0.36385	N	0.199	0.21969	-0.9711	0.36967	T	0.103	0.37844	T	9	0.10419381	0.19196	T	0.014904	0.35312	T	0.049	0.13647	0.376	0.38994	0.043077524339	0.03247	0.456916657671886	0.45609	0.615720585361	0.56053	0.582476615906	0.50434	T	0.030676	0.21687	T	-0.289733	0.09663	T	-0.374523	0.36360	T	0.199352234601974	0.20380	T	0.785321	0.42297	T	0.08740978	0.20353	0.117856696	0.28451	0.08740978	0.20352	0.117856696	0.28450	-2.724	0.07506	T	.	.	0.126	0.26607	B	.	.	4.498856	0.70345	25.5	0.99669416978583381	0.78458	0.86155	0.45383	D	AEFDBCI	0.591953	0.58785	D	0.0457351187334584	0.43946	2.677782	0.146017887553991	0.46932	2.93121	0.999999645939172	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.44	3.44	0.38486	3.404000	0.52371	4.868000	0.45538	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.6095:0.3905:0.0	11.765	0.51195	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1580.33	34	chr1	179814026	.	C	T	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.298;DP=789;ExcessHet=0;FS=2.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.01;SOR=0.482	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	18	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	247.92	.	chr1	179903964	.	A	C	247.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.684;DP=881;ExcessHet=0.3672;FS=124.73;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=1.52;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:98:.:.:0,98,1009:.	15	0	3	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	114.16	65	chr1	180014239	.	G	C	114.16	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.228;DP=1733;ExcessHet=0.3672;FS=234.926;InbreedingCoeff=-0.1582;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.066;SOR=11.592	GT:AD:DP:GQ:PL	0/0:78,22:100:19:0,19,1489	13	0	3	3
chr1	180014368	180014368	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1915C:p.A639P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.162960905331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.938e-07	2.052e-05	0	1.399e-06	9.079e-07	0	0	.	.	0	0	0	0	0	0	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.43159	T	0.726	0.42471	P	0.533	0.48638	P	0.000175	0.48594	D	0.000000	0.999949	0.51968	D	2.485	0.72352	M	-2.59	0.89822	D	-2.36	0.52128	N	0.8	0.79599	0.412	0.89271	D	0.732	0.90833	D	9	0.72775644	0.74088	D	0.162961	0.84241	D	0.533	0.80367	0.183	0.09131	0.719831743072	0.71736	0.3087313756742884	0.30786	0.461430799888	0.45681	0.556343972683	0.46751	T	0.023507	0.17932	T	0.312031	0.83897	D	0.210434	0.83688	D	0.951117602773591	0.63488	D	0.90031	0.65351	D	0.6567444	0.75724	0.748747	0.85149	0.6567444	0.75725	0.748747	0.85149	-9.817	0.72809	D	.	.	0.933	0.85246	P	.	.	4.491660	0.70175	25.5	0.99786338097325844	0.87219	0.99185	0.92484	D	AEFBI	0.884800	0.81480	D	0.554747268834377	0.70372	5.491825	0.618703708997397	0.76297	6.465375	0.999999999874702	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.646000	0.82603	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.239	0.93860	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	81.3	84	chr1	180014368	.	G	C	81.3	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.953;DP=1628;ExcessHet=0.3672;FS=503.697;InbreedingCoeff=-0.1603;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=1.12;SOR=9.49	GT:AD:DP:GQ:PL	0/0:54,19:79:4:0,4,1322	12	0	3	4
chr1	180053111	180053111	A	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon23:c.A4934T:p.H1645L	.	1	224	1	0	0	1	0.00222717	.	.	.	2443611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0217243098178	.	.	8.906e-06	0	0	0	0	1.619e-05	0	0	1.29e-05	2	154602	rs763479176	5.496e-06	5.472e-06	4.101e-06	6.904e-06	0.0003	2.36e-06	1.71e-06	6.111e-05	2.528e-05	0	2.292e-05	0	0	0	0.0003	3.606e-06	1.663e-05	0	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.318	0.19246	T	0.704	0.41950	P	0.152	0.34249	B	0.078397	0.21046	N	0.341161	0.945229	0.37479	D	1.59	0.40313	L	0.41	0.57100	T	-3.31	0.65972	D	0.259	0.29313	-1.0840	0.06591	T	0.061	0.25599	T	9	0.087225735	0.14904	T	0.021724	0.44537	T	0.072	0.21020	0.15	0.05339	0.182106788282	0.17826	0.2078053782664928	0.20696	0.0864879405707	0.09766	0.402447640896	0.25410	T	0.026123	0.19398	T	-0.186224	0.22814	T	-0.415543	0.31586	T	0.201098993420601	0.20476	T	0.764923	0.39208	T	0.12177307	0.28630	0.17049669	0.39163	0.12177307	0.28629	0.17049669	0.39162	-3.771	0.20372	T	.	.	0.097	0.15654	B	.	.	3.884362	0.56480	23.7	0.96126886149526336	0.28793	0.88552	0.48533	D	AEFGBI	0.143518	0.26623	N	-0.179583416186968	0.33986	1.934485	-0.0251994568401442	0.38581	2.275046	0.370654020248898	0.19867	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.62	2.97	0.33479	3.261000	0.51233	6.872000	0.56790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.6043:0.1977:0.198:0.0	3.906	0.08684	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	878.33	36	chr1	180053111	.	A	T	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=700;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.38;SOR=1.009	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	18	0	1	0
chr1	180182310	180182310	G	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon6:c.G743A:p.R248Q,QSOX1:NM_002826:exon6:c.G743A:p.R248Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0158967385131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968998313	6.841e-06	6.84e-06	2.722e-06	1.1e-05	8.961e-05	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	1.872e-05	0	5.396e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.198	0.20532	T	0.185	0.28958	T	0.188	0.48618	B	0.034	0.35644	B	0.000004	0.62929	D	0.102688	0.999026	0.45899	D	2.015	0.55033	M	3.57	0.16640	T	-1.92	0.44657	N	0.546	0.57263	-1.0611	0.11483	T	0.032	0.13723	T	10	0.18493035	0.33890	T	0.015897	0.36884	T	0.108	0.30607	0.411	0.44723	0.206339911435	0.20273	0.5299405699990908	0.52918	0.229058174001	0.25467	0.388530611992	0.23463	T	0.02968	0.21214	T	-0.315502	0.07272	T	-0.509445	0.21372	T	0.699597656726837	0.40700	D	0.814918	0.46941	T	0.19268267	0.40947	0.14373492	0.34149	0.19268267	0.40947	0.14373492	0.34148	-6.31	0.48801	T	.	.	0.127	0.26917	B	.;.	.;.	2.841665	0.37494	20.5	0.98280810206770663	0.39852	0.96134	0.67688	D	AEFBI	0.470942	0.51669	N	-0.353050241088467	0.27161	1.487937	-0.337631383984807	0.26895	1.488554	0.998281758775479	0.36695	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	3.726000	0.54704	2.630000	0.33687	-0.128000	0.13240	0.987000	0.36337	0.971000	0.29754	0.109000	0.18697	0.0806:0.0:0.9194:0.0	12.165	0.53433	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1963.33	34	chr1	180182310	.	G	A	1963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.22;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.475;SOR=0.746	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	18	0	1	0
chr1	180189663	180189663	G	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon9:c.G1129A:p.D377N,QSOX1:NM_002826:exon9:c.G1129A:p.D377N	.	.	.	.	.	.	.	.	.	.	.	4057318	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0023824538425	.	0.000199681	5.795e-05	0	0	0.0001	0	1.504e-05	0	0.0003	5.17e-05	8	154602	rs568957643	1.986e-05	1.984e-05	1.635e-05	2.34e-05	0.0002	1.393e-05	1.204e-05	0.0002	0.0001	0	4.481e-05	0	2.521e-05	0	0	3.6e-06	3.317e-05	0.0002	1.97e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.04355	B	0.006659	0.31890	N	0.409391	0.977566	0.25304	N	-2.08	0.00163	N	3.78	0.16640	T	2.86	0.00162	N	0.123	0.11483	-0.9244	0.44943	T	0.007	0.02558	T	10	0.016710788	0.00353	T	0.002382	0.04646	T	0.065	0.18881	0.355	0.35571	0.126345400529	0.12197	0.21767843879875487	0.21683	0.113037814905	0.12762	0.24559289217	0.03317	T	0.014904	0.12601	T	-0.595417	0.00155	T	-0.79686	0.01982	T	0.0111947160621736	0.00164	T	0.577542	0.20782	T	0.076088	0.17185	0.07547164	0.16617	0.076088	0.17184	0.07547164	0.16617	0.945	0.00139	T	.	.	0.066	0.02518	B	.;.	.;.	1.297300	0.16988	12.89	0.31410894903030512	0.01769	0.07092	0.13118	N	AEFBI	0.033258	0.03908	N	-1.38166704020612	0.02810	0.1246199	-1.10655821548202	0.07574	0.3689521	0.863790756667826	0.25277	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	1.51	0.22094	4.062000	0.57206	3.487000	0.38689	-1.351000	0.01191	1.000000	0.71638	0.024000	0.20971	0.213000	0.22268	0.8613:0.0:0.1387:0.0	10.739	0.45342	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	528.33	38	chr1	180189663	.	G	A	528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=668;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.377;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	18	0	1	0
chr1	180430259	180430259	G	A	exonic	ACBD6	.	nonsynonymous SNV	ACBD6:NM_032360:exon4:c.C388T:p.P130S	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00292966988302	.	.	8.263e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs771460498	2.054e-06	3.42e-06	0	4.129e-06	3.479e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814	0.03005	T	0.811	0.03933	T	0.0	0.02946	B	0.001	0.04355	B	0.417213	0.12918	N	0.753644	0.999738	0.20548	N	0.145	0.08828	N	0.9	0.45248	T	0.82	0.01813	N	0.319	0.35938	-1.0028	0.29109	T	0.043	0.18576	T	10	0.03826508	0.02233	T	0.00293	0.06221	T	0.022	0.04323	0.408	0.44230	0.110078149338	0.10416	0.27494046575236	0.27407	0.0538255850715	0.05943	0.287481576204	0.08556	T	0.018757	0.15068	T	-0.335025	0.05740	T	-0.622162	0.11017	T	0.0112114525924664	0.00165	T	0.642236	0.25428	T	0.019509925	0.00483	0.040983226	0.04553	0.019509925	0.00483	0.040983226	0.04553	-4.624	0.32472	T	.	.	0.073	0.04558	B	.;.	.;.	0.867814	0.12404	8.941	0.50518940025565762	0.04398	0.07021	0.13047	N	AEFBI	0.061671	0.11805	N	-1.18179794554902	0.05276	0.2400984	-1.11250085053115	0.07461	0.3629863	0.76893299662932	0.23638	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	1.5	0.22029	0.092000	0.14905	0.662000	0.20512	-0.113000	0.14837	0.029000	0.20367	0.057000	0.21958	0.320000	0.24970	0.3084:0.0:0.5163:0.1754	4.689	0.12155	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	33	chr1	180430259	.	G	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.489;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr1	180941064	180941064	A	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon7:c.A2938G:p.T980A	.	19	1476	24	3	0	30	0.0100604	.	.	.	2806212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0076	0.0061901	0.0086	0.0034	0.0106	0	0.0063	0.0108	0.0080	0.0065	0.0075678	1170	154602	rs201945338	0.0117	0.0097	0.0119	0.0115	0.0219	0.0116	0.0115	0.0182	0.0168	0.0033	0.0139	0.0044	0	0.0080	0.0219	0.0128	0.0142	0.0047	0.0086	0.0084	0.0087	0.0084	0.0189	0.0082	0.0080	0.0168	0.0160	0.0029	0.0012	0.0189	0.0039	0.0005	0.0041	0.0303	0.0111	0.0156	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.835255	0.09075	N	0.922088	1	0.08975	N	-2.215	0.00119	N	2.66	0.20255	T	1.27	0.00985	N	0.059	0.04188	-0.9400	0.42616	T	0.004	0.01125	T	9	0.0034906864	0.00062	T	.	.	.	0.045	0.12272	.	.	0.0138822411134	0.00435	0.0973136760446218	0.09662	0.205534111344	0.22973	0.315716296434	0.12772	T	3.09E-4	0.00078	T	-0.738076	0.00021	T	-0.822584	0.01401	T	0.00654906188324048	0.00073	T	0.275872	0.04729	T	0.02216447	0.00861	0.02993354	0.01387	0.02216447	0.00861	0.02993354	0.01387	-2.429	0.05314	T	.	.	0.073	0.06849	B	.;.	.;.	-0.218727	0.02997	0.451	0.3080931036934022	0.01704	0.00135	0.00831	N	AEFDB	0.018074	0.00520	N	-1.55839277211883	0.01486	0.06487531	-1.44364132447668	0.02828	0.130815	0.953078564946542	0.28053	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.21	0.672	0.17103	-0.150000	0.10174	0.372000	0.17687	-1.035000	0.01680	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2073:0.2481:0.3843:0.1603	1.150	0.01674	785	0.46916	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019697	0.040404	0.019074	0.011765	0.000000	0.034483	0.012270	0.007576	0.02632	233.34	36	chr1	180941064	.	A	G	233.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.494;SOR=0.919	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1177	18	0	1	0
chr1	180945344	180945344	A	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon9:c.A3329G:p.D1110G	.	12	1499	11	0	0	11	0.0036557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	0.0017	0.00219649	0.0037	0.0003	0.0021	0	0.0223	0.0036	0.0057	0.0013	0.0032535	503	154602	rs140904251	0.0031	0.0031	0.0030	0.0032	0.0027	0.0030	0.0030	0.0027	0.0026	0.0005	0.0020	3.948e-05	0	0.0207	0.0023	0.0027	0.0028	0.0012	0.0035	0.0035	0.0027	0.0043	0.0035	0.0033	0.0032	0.0031	0.0030	0.0004	0	0.0012	0	0	0.0235	0.0034	0.0035	0.0028	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000025	0.55875	D	0.114482	0.999972	0.53665	D	2.57	0.75187	M	1.32	0.49642	T	-5.75	0.89648	D	0.768	0.76573	-0.4578	0.70141	T	0.202	0.55836	T	9	0.008362293	0.00190	T	.	.	.	0.418	0.72780	.	.	0.492064528124	0.48842	0.6928797665027464	0.69227	0.928294480531	0.71718	0.759231686592	0.75815	T	0.22301	0.58703	T	-0.0813272	0.39498	T	0.108297	0.77459	D	0.0462155362936917	0.04822	T	0.842416	0.58386	T	0.8799948	0.89666	0.8390531	0.90775	0.8799948	0.89667	0.8390531	0.90776	-11.446	0.82048	D	.	.	0.863	0.82227	P	.;.;.	.;.;.	4.747063	0.76619	26.5	0.99838733092690002	0.91972	0.96984	0.72022	D	AEFDBCI	0.836107	0.75391	D	0.652883381564968	0.76557	6.508252	0.607806582318638	0.75506	6.322543	0.999999999987964	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	7.529000	0.80843	11.090000	0.85912	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	1.0:0.0:0.0:0.0	14.220	0.65364	784	0.47045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	427.33	33	chr1	180945344	.	A	G	427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.09;DP=657;ExcessHet=0;FS=1.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.242;SOR=1.267	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1396	18	0	1	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205293:exon7:c.C990G:p.Y330X,CACNA1E:NM_001205294:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	32.68	119	chr1	181651376	.	C	G	32.68	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.647;DP=1941;ExcessHet=0.119;FS=277.081;InbreedingCoeff=-0.2222;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.635;SOR=10.048	GT:AD:DP:GQ:PL	./.:110,0:110:0:0,0,1930	7	0	2	10
chr1	181755376	181755376	A	C	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon27:c.A3911C:p.K1304T,CACNA1E:NM_000721:exon28:c.A3968C:p.K1323T,CACNA1E:NM_001205293:exon28:c.A3968C:p.K1323T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.575358930402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.50676	D	0.006	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000001	0.62929	D	0.097124	1	0.81001	D	1.395	0.35261	L	-3.98	0.96496	D	-5.54	0.86149	D	0.499	0.56231	1.041	0.97923	D	0.911	0.97053	D	10	0.68912774	0.71746	D	0.575359	0.96175	D	0.829	0.94579	0.451	0.51285	0.853503182074	0.85209	0.9718185694853211	0.97170	1.88409368239	0.92644	0.77986061573	0.78906	T	0.955312	0.99384	D	0.212944	0.75109	D	0.0681022	0.74784	D	0.991780936717987	0.82131	D	0.963804	0.86607	D	0.645231	0.75110	0.5376644	0.73282	0.645231	0.75111	0.5376644	0.73283	-11.138	0.80409	D	.	.	0.62	0.84845	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.639081	0.73833	26.1	0.9983108424146393	0.91284	0.96658	0.70254	D	AEFGBI	0.826251	0.74577	D	0.576940060704178	0.71736	5.696623	0.593286959409967	0.74456	6.140353	0.999992003654374	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	5.987000	0.70248	11.248000	0.90647	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.885	0.70198	692	0.58729	.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	38	chr1	181755376	.	A	C	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.679;DP=713;ExcessHet=0;FS=4.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.92;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr1	181798724	181798724	A	G	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon46:c.A6646G:p.M2216V,CACNA1E:NM_000721:exon47:c.A6703G:p.M2235V,CACNA1E:NM_001205293:exon48:c.A6832G:p.M2278V	.	.	.	.	.	.	.	.	.	.	.	1232482	Developmental_and_epileptic_encephalopathy,_69|CACNA1E-related_disorder|not_provided	MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.277	0.0453817838397	0.0002	0.000199681	0.0010	0.0001	0	0	0.0003	0.0015	0	0.0008	0.0007956	123	154602	rs200469194	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	0.0002	0.0001	3.836e-05	0	0.0002	0.0007	0.0009	0.0007	0.0007	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	6.534e-05	0	0	0.0002	0	0.0009	0.0014	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.19406	B	0.0	0.11217	B	0.000019	0.62929	D	0.159198	0.905965	0.36288	D	-0.135	0.04517	N	-3.21	0.93787	D	-0.65	0.18877	N	0.133	0.36569	-0.5201	0.67910	T	0.396	0.74901	T	10	0.008441597	0.00191	T	0.045382	0.61955	D	0.277	0.59375	.	.	0.676647754665	0.67390	0.3286904382447186	0.32782	0.306839583504	0.32986	0.528639793396	0.42842	T	0.103736	0.41266	T	-0.242318	0.15056	T	-0.17129	0.57324	T	0.0160030273476094	0.00381	T	0.871513	0.57764	D	0.07211374	0.16017	0.07441033	0.16275	0.07211374	0.16017	0.07441033	0.16275	-2.62	0.06657	T	.	.	0.238	0.47217	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.644508	0.34418	19.62	0.67872631917846005	0.08485	0.72463	0.35467	D	AEFDBCI	0.257536	0.37625	N	-0.654715875475975	0.17324	0.8904189	-0.393943620799647	0.25177	1.383001	0.00412443373906715	0.10426	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	3.21	0.35933	2.781000	0.47437	1.732000	0.28335	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7929:0.1361:0.071:0.0	8.056	0.29767	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	33	chr1	181798724	.	A	G	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.32;DP=732;ExcessHet=0;FS=3.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.575;SOR=0.385	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	18	0	1	0
chr1	182057461	182057461	C	T	exonic	ZNF648	.	nonsynonymous SNV	ZNF648:NM_001009992:exon2:c.G550A:p.A184T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00146914968031	0.0018	0.000798722	0.0016	0.0004	0.0002	0	0.0012	0.0024	0.0033	0.0012	0.0016688	258	154602	rs146081397	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0003	0.0016	0	0.0012	0.0007	0.0022	0.0016	0.0011	0.0013	0.0013	0.0016	0.0009	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0	0.0003	0.0014	0	0.0013	0	0.0023	0	0.0004	0.519	0.07283	T	0.078	0.42261	T	0.329	0.33227	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.24	0.06845	T	0.23	0.04613	N	0.018	0.00252	-0.9374	0.43025	T	0.009	0.03096	T	9	0.004703164	0.00099	T	0.001469	0.02241	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.061509922870363914	0.06090	0.382517335896	0.39582	0.215970575809	0.01090	T	6.2E-4	0.00264	T	-0.769851	0.00013	T	-0.882605	0.00633	T	0.0105970424244637	0.00148	T	0.40486	0.10377	T	0.022798976	0.00969	0.048493847	0.07215	0.022798976	0.00969	0.048493847	0.07215	-3.803	0.20849	T	.	.	0.068	0.02797	B	.	.	0.348533	0.07216	3.812	0.89377008956422965	0.18744	0.01590	0.05170	N	AEFDBI	0.037842	0.05266	N	-1.29641972734289	0.03718	0.1666067	-1.37954056328799	0.03471	0.1619657	0.812558640389024	0.24381	0.487112	0.14033	0	0.563428	0.19063	0	0.616487	0.41570	0	0.564101	0.26826	0	.	.	2.71	-1.6	0.07977	-0.941000	0.04035	-0.387000	0.09501	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4777:0.1886:0.3337:0.0	4.353	0.10600	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3501.33	36	chr1	182057461	.	C	T	3501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.518;DP=962;ExcessHet=0;FS=11.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.13;SOR=0.95	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1125	18	0	1	0
chr1	182450175	182450175	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon1:c.G10A:p.A4T,RGSL1:NM_001366934:exon1:c.G10A:p.A4T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147072543627	0.0002	0.000199681	0.0009	0.0003	0.0023	0	0	0	0	0.0024	0.0001423	22	154602	rs368344415	0.0001	0.0001	8.176e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	6.33e-05	0	0	0	0	0.0002	0	0.0002	0.0022	5.908e-05	5.905e-05	2.569e-05	9.398e-05	0.0014	3.075e-05	2.208e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0014	0.243	0.17526	T	0.142	0.33330	T	0.192	0.29441	B	0.048	0.24975	B	.	.	.	.	0.996112	0.23111	N	0.805	0.20218	L	2.25	0.17761	T	-0.23	0.10656	N	0.113	0.10056	.	.	.	.	.	.	.	0.004927665	0.00106	T	0.014707	0.35003	T	.	.	.	.	0.148003135375	0.14442	0.15266643169609598	0.15188	.	.	0.481375157833	0.36246	T	0.002827	0.02217	T	-0.584936	0.00180	T	-0.619163	0.11251	T	.	.	.	0.529847	0.17555	T	0.05234949	0.09752	0.100615256	0.24061	0.05234949	0.09751	0.100615256	0.24060	-3.81	0.20954	T	.	.	0.109	0.20857	B	.	.	2.182110	0.27816	17.59	0.97854614614290636	0.36418	0.29481	0.23833	N	AEFDBHCIJ	0.045130	0.07346	N	.	.	.	.	.	.	0.606135800991604	0.21766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	4.33	3.41	0.38145	1.015000	0.29565	5.313000	0.48269	0.676000	0.76740	0.439000	0.26479	0.976000	0.30059	0.923000	0.45890	0.1064:0.0:0.8936:0.0	9.092	0.35780	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001220	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	1414.33	130	chr1	182450175	.	G	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.053;DP=766;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-2.234;SOR=0.579	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1218	18	0	1	0
chr1	182530808	182530808	C	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2262G:p.D754E,RGSL1:NM_001366934:exon14:c.C2367G:p.D789E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	0.0105831	0.0047	0.0371	0.0024	0	0	0	0	0.0001	0.0012484	193	154602	rs76076926	0.0010	0.0010	0.0011	0.0008	0.0360	0.0009	0.0009	0.0342	0.0335	0.0360	0.0012	0	0	0	0.0018	8.447e-05	0.0019	5.097e-05	0.0096	0.0096	0.0098	0.0093	0.0335	0.0091	0.0090	0.0321	0.0315	0.0335	0	0.0028	0	0	0	0	0.0002	0.0038	0	0.413	0.10052	T	0.391	0.15456	T	0.02	0.18235	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	0.235	0.09667	N	1.85	0.24472	T	-0.74	0.20791	N	0.078	0.05287	.	.	.	.	.	.	.	0.0014108121	0.00015	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.026102706633477003	0.02561	.	.	0.338859170675	0.16266	T	0.002726	0.02115	T	-0.762855	0.00014	T	-0.842803	0.01057	T	.	.	.	0.49905	0.15565	T	0.043710064	0.06861	0.03770628	0.03481	0.043710064	0.06861	0.03770628	0.03481	-3.982	0.23533	T	.	.	0.128	0.27192	B	.	.	-0.916764	0.00898	0.033	0.61717770685574758	0.06779	0.00665	0.02874	N	AEFGBI	0.028254	0.02456	N	.	.	.	.	.	.	0.999999979814801	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-11.5	0.00057	-1.504000	0.02379	-5.638000	0.01647	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.1578:0.4246:0.1392:0.2784	3.745	0.08071	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001229	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.000000	0.02632	903.33	33	chr1	182530808	.	C	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.315;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr1	182900066	182900066	C	T	exonic	SHCBP1L	.	nonsynonymous SNV	SHCBP1L:NM_030933:exon10:c.G1879A:p.V627I,SHCBP1L:NM_001345928:exon11:c.G1522A:p.V508I	.	495	1026	1	0	0	1	0.000487092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00374286982206	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1478384500	6.845e-06	6.84e-06	5.449e-06	8.256e-06	2.988e-05	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.988e-05	2.24e-05	0	0	0	0	4.498e-06	1.657e-05	2.322e-05	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.367	0.11659	T	0.236	0.24694	T	.	.	.	.	.	.	0.013232	0.28908	N	0.243688	0.934616	0.26965	N	.	.	.	0.98	0.42122	T	-0.26	0.11185	N	0.077	0.05162	-1.0738	0.08598	T	0.038	0.16376	T	10	0.051856756	0.05131	T	0.003743	0.08682	T	0.025	0.05312	.	.	0.0611884634855	0.05136	0.224163108759251	0.22331	0.137318649521	0.15482	0.421790122986	0.28083	T	.	.	.	-0.302701	0.08406	T	-0.672586	0.07443	T	0.224868547035791	0.21704	T	0.652935	0.26315	T	0.034833066	0.03986	0.03277407	0.02066	0.034833066	0.03985	0.03277407	0.02066	-3.523	0.16755	T	.	.	0.083	0.09239	B	.	.	2.313663	0.29619	18.18	0.94894292018025017	0.25739	0.52646	0.29181	D	AEFI	0.084417	0.17108	N	-0.447983520794218	0.23808	1.281187	-0.220623917477258	0.30796	1.737183	4.99530584079893E-4	0.07150	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	3.52	0.39415	1.037000	0.29850	3.988000	0.40963	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6416:0.1749:0.1835	5.001	0.13610	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	519.33	35	chr1	182900066	.	C	T	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195;DP=673;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.679;SOR=0.973	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1211	18	0	1	0
chr1	183024083	183024083	A	G	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon1:c.A367G:p.M123V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.0270644664965	.	.	1.252e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs777463859	4.115e-06	4.788e-06	4.093e-06	4.138e-06	5.402e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.89	0.74793	T	-3.24	0.65171	D	0.838	0.83371	0.036	0.82967	D	0.527	0.82423	D	10	0.84340495	0.83499	D	0.027064	0.49920	D	0.668	0.87674	0.684	0.82175	0.879703552197	0.87853	0.6368371095667293	0.63617	0.478096384883	0.46899	0.732866823673	0.71925	T	0.416987	0.76977	T	0.283158	0.81585	D	0.16896	0.81348	D	0.92522257566452	0.58683	D	0.945705	0.79334	D	0.6155264	0.73524	0.78373915	0.87258	0.6155264	0.73525	0.78373915	0.87259	-8.795	0.66368	D	.	.	0.595	0.68690	P	.	.	3.902598	0.56863	23.8	0.99116859295890647	0.52880	0.78712	0.38876	D	ALL	0.924028	0.90142	D	0.722708040451512	0.81122	7.448668	0.732234095804306	0.84825	8.401553	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	5.49	5.49	0.81022	8.903000	0.92196	10.996000	0.84725	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.609	0.76452	465	0.78421	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2659.33	36	chr1	183024083	.	A	G	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=946;ExcessHet=0;FS=2.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.869;SOR=0.897	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr1	183240176	183240176	C	T	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon21:c.C3206T:p.T1069M,LAMC2:NM_018891:exon21:c.C3206T:p.T1069M	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1505	16	1	0	18	0.00594452	.	.	.	192764	Junctional_epidermolysis_bullosa|not_provided|not_specified	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.020	0.035107464282	0.0008	0.000998403	0.0019	0.0004	0.0008	0	0	0.0009	0.0044	0.0091	0.0015912	246	154602	rs139043074	0.0013	0.0013	0.0010	0.0016	0.0088	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0.0007	2.519e-05	7.488e-05	0.0047	0.0009	0.0013	0.0088	0.0010	0.0010	0.0009	0.0012	0.0079	0.0009	0.0008	0.0059	0.0052	0.0003	0	0.0010	0.0012	0	9.438e-05	0.0136	0.0011	0.0024	0.0079	0.15	0.24661	T	0.159	0.31527	T	0.002	0.09854	B	0.004	0.10090	B	0.235698	0.03548	N	1.492780	1	0.08975	N	0.49	0.13296	N	2.42	0.77964	T	-0.28	0.11547	N	0.113	0.10056	-0.9493	0.41092	T	0.183	0.53179	T	10	0.0037301779	0.00069	T	0.035107	0.56125	D	0.020	0.03691	.	.	0.392855499163	0.38900	0.19013853192454916	0.18931	0.116372656426	0.13123	0.223327606916	0.01510	T	0.053413	0.29437	T	-0.560059	0.00253	T	-0.570581	0.15397	T	0.000610280558132899	0.00005	T	0.408659	0.10529	T	0.011729313	0.00021	0.02869546	0.01131	0.011143341	0.00014	0.029973174	0.01396	-5.196	0.39665	T	0.08356276600892182	0.04525	0.084	0.09917	B	.;.	.;.	-0.896380	0.00931	0.035	0.89864506542672795	0.19169	0.01268	0.04441	N	AEFDBI	0.054638	0.09951	N	-1.41869216022294	0.02475	0.1093332	-1.45828537975067	0.02696	0.1244767	0.999999244737839	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.69	-5.57	0.02321	-1.981000	0.01580	-4.289000	0.02236	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0947:0.471:0.1757:0.2586	4.365	0.10655	518	0.74548	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1789.33	33	chr1	183240176	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.44;DP=777;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-2.252;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr1	183563229	183563229	T	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon11:c.A1013T:p.N338I,NCF2:NM_001190794:exon12:c.A1121T:p.N374I,NCF2:NM_000433:exon13:c.A1256T:p.N419I,NCF2:NM_001127651:exon14:c.A1256T:p.N419I	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	265448	Developmental_and_epileptic_encephalopathy,_28|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_specified|not_provided	MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.280	.	0.0065	0.00419329	0.0054	0.0012	0.0041	0.0001	0.0015	0.0059	0.0055	0.0110	0.0055562	859	154602	rs35012521	0.0082	0.0082	0.0082	0.0082	0.0106	0.0081	0.0080	0.0101	0.0098	0.0010	0.0045	0.0057	2.519e-05	0.0016	0.0094	0.0090	0.0095	0.0106	0.0054	0.0054	0.0057	0.0050	0.0097	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0045	0.0061	0	0.0010	0.0136	0.0085	0.0076	0.0097	0.003	0.68238	D	0.003	0.76473	D	0.987	0.61912	D	0.942	0.67772	D	0.000092	0.51296	D	0.203036	0.521606	0.31901	D	2.725	0.79712	M	0.78	0.49358	T	-4.32	0.78636	D	0.463	0.50418	-0.7436	0.58267	T	0.198	0.55329	T	10	0.0100801885	0.00226	T	.	.	.	0.280	0.59740	.	.	0.696356426285	0.69374	0.4952431128784428	0.49445	0.798378576579	0.66127	0.477975904942	0.35778	T	0.244942	0.61416	T	-0.410573	0.01970	T	-0.351505	0.39032	T	0.0335921999053578	0.02569	T	0.89911	0.65732	D	0.8869816	0.90250	0.73654705	0.84429	0.92818314	0.94056	0.76936954	0.86382	-8.453	0.69701	D	0.5583680511695567	0.62632	0.516	0.65319	A	.;.;.;.	.;.;.;.	4.079810	0.60676	24.2	0.99299000505735635	0.58541	0.86709	0.46048	D	AEFDBCI	0.325078	0.42677	N	0.489766814090699	0.66488	4.956959	0.450411146364601	0.64743	4.736657	0.999910455796851	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	5.58	4.46	0.53567	2.628000	0.46143	3.388000	0.38048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0765:0.0:0.9235	9.980	0.40982	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain	NCF2	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	16467.8	733	chr1	183563229	.	T	A	16467.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.574;DP=1903;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.951;SOR=0.641	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	17	0	2	0
chr1	183563455	183563455	C	T	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon10:c.G914A:p.R305Q,NCF2:NM_001190794:exon11:c.G1022A:p.R341Q,NCF2:NM_000433:exon12:c.G1157A:p.R386Q,NCF2:NM_001127651:exon13:c.G1157A:p.R386Q	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	277870	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_provided	MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0006	0.00159744	0.0023	0.0002	0.0002	0.0001	0	0.0009	0.0022	0.0128	0.0019534	302	154602	rs147908264	0.0012	0.0012	0.0008	0.0016	0.0131	0.0011	0.0011	0.0125	0.0122	8.961e-05	0.0001	0.0047	0	0	0.0040	0.0003	0.0012	0.0131	0.0008	0.0008	0.0005	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0002	0	0.0001	0.0046	0.0004	0	0	0.0005	0.0009	0.0108	0.381	0.11298	T	0.446	0.13103	T	0.005	0.12996	B	0.006	0.12133	B	0.309013	0.14466	N	0.703897	1	0.08975	N	-0.55	0.02420	N	2.02	0.21119	T	0.74	0.10136	N	0.056	0.03283	-1.0052	0.28397	T	0.013	0.04985	T	10	0.0024029315	0.00036	T	.	.	.	0.033	0.08068	.	.	0.378148810121	0.37422	0.18134710352317318	0.18053	0.391775790859	0.40374	0.233727142215	0.02255	T	0.026443	0.19569	T	-0.636296	0.00088	T	-0.675741	0.07245	T	0.00560708503008799	0.00061	T	0.80302	0.47811	T	0.19587156	0.41392	0.10195045	0.24422	0.3506981	0.57122	0.11283788	0.27228	-1.779	0.02576	T	0.07251759788107494	0.02979	0.073	0.04764	B	.;.;.;.;.;.	.;.;.;.;.;.	0.673286	0.10417	7.140	0.92516542919920997	0.21957	0.03912	0.09295	N	AEFBCI	0.042016	0.06465	N	-1.48969422206998	0.01922	0.08435966	-1.48435326832066	0.02472	0.1137646	0.999898119030811	0.45129	0.631515	0.41029	0	0.697927	0.68747	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.74	-7.78	0.01086	-0.423000	0.07102	0.741000	0.21161	-0.136000	0.12710	0.001000	0.13787	0.104000	0.22711	0.852000	0.40310	0.1765:0.1865:0.354:0.2831	1.658	0.02617	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain;PB1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	5438.33	34	chr1	183563455	.	C	T	5438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.83;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.02;SOR=0.66	GT:AD:DP:GQ:PL	0/1:264,210:474:99:5452,0,6270	18	0	1	0
chr1	183586955	183586955	C	T	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_000433:exon2:c.G197A:p.R66Q,NCF2:NM_001190789:exon2:c.G197A:p.R66Q,NCF2:NM_001190794:exon2:c.G197A:p.R66Q,NCF2:NM_001127651:exon3:c.G197A:p.R66Q	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	761392	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|Inborn_genetic_diseases	MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.0192778636167	7.7e-05	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	6.056e-05	0.0001294	20	154602	rs142803799	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0005	0.0004	0	0.0001	0.0031	0.0007	0	0.0009	6.565e-05	0.0004	1.159e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.738e-05	8.253e-05	6.805e-05	5.088e-05	4.812e-05	0	6.533e-05	0.0023	0.0002	0	0	0.0001	0.0005	0	0.425	0.36912	T	0.214	0.27591	T	0.05	0.22331	B	0.005	0.11217	B	0.008021	0.31057	N	0.330937	1	0.08975	N	2.135	0.59519	M	0.29	0.58897	T	-1.41	0.35597	N	0.37	0.43029	-1.0281	0.21070	T	0.099	0.36932	T	10	0.01787427	0.00385	T	0.019278	0.41600	T	0.030	0.07022	.	.	0.446211707333	0.44242	0.13313142058989438	0.13237	0.360806098794	0.37744	0.241206169128	0.02900	T	0.242916	0.61175	T	-0.355008	0.04420	T	-0.522019	0.20090	T	0.0263366213632394	0.01451	T	0.822218	0.48193	T	0.3224268	0.54844	0.18238722	0.41162	0.3224268	0.54844	0.18238722	0.41161	-3.573	0.31779	T	0.308122722376982	0.40589	0.085	0.10159	B	.;.;.;.	.;.;.;.	2.151955	0.27411	17.45	0.97164662000995983	0.32647	0.05244	0.11078	N	AEFBI	0.061589	0.11784	N	-0.821241723579229	0.12768	0.6245154	-0.81718168488076	0.14079	0.7338135	0.999767723019943	0.42728	0.660085	0.49399	0	0.662677	0.63036	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.17	2.08	0.26079	0.815000	0.26910	0.549000	0.19403	-0.313000	0.06017	0.001000	0.13787	0.757000	0.26594	0.984000	0.60418	0.0:0.6644:0.0:0.3356	8.939	0.34878	714	0.56256	.;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1413.33	33	chr1	183586955	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.815;DP=766;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.664;SOR=0.841	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1395	18	0	1	0
chr1	183938855	183938855	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303421:exon12:c.G1427A:p.R476Q,COLGALT2:NM_015101:exon12:c.G1787A:p.R596Q	.	.	.	.	.	.	.	.	.	.	.	2216497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0517917718403	0.0008	.	9.885e-05	0.0009	0	0.0001	0	0	0	0.0001	7.76e-05	12	154602	rs146207368	5.678e-05	5.678e-05	4.628e-05	6.738e-05	0.0013	4.676e-05	4.301e-05	0.0010	0.0008	0.0013	4.472e-05	0	5.038e-05	0	0.0002	8.993e-06	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0	0	0	0	0.0005	0	0.211	0.19569	T	0.517	0.10572	T	0.022	0.18677	B	0.009	0.14300	B	0.001510	0.38793	N	0.250367	0.723639	0.81001	D	0.47	0.13106	N	-1.13	0.77719	T	-0.98	0.25986	N	0.051	0.04188	-0.8559	0.51555	T	0.227	0.59171	T	10	0.031795263	0.01319	T	0.051792	0.64808	D	0.152	0.39956	.	.	0.703400743332	0.70082	0.3852375557151955	0.38438	0.342346230943	0.36172	0.345343112946	0.17234	T	0.012026	0.10639	T	-0.356349	0.04340	T	-0.340995	0.40233	T	0.0181420370882937	0.00536	T	0.825917	0.48908	T	0.08909641	0.20806	0.049842436	0.07700	0.08909641	0.20806	0.049842436	0.07699	-3.684	0.19082	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.606086	0.33840	19.46	0.9960539428463594	0.74456	0.91600	0.53868	D	AEFDBI	0.510812	0.53970	D	-0.387936043993318	0.25898	1.409324	-0.196586428656433	0.31661	1.793941	0.411309031960755	0.20214	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.42	3.54	0.39650	1.950000	0.39948	0.241000	0.16308	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.982000	0.59238	0.0:0.8528:0.0:0.1472	11.326	0.48684	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1431.33	34	chr1	183938855	.	C	T	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.05;DP=791;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.526;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr1	183975111	183975111	A	C	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon3:c.T478G:p.S160A,COLGALT2:NM_001303421:exon3:c.T118G:p.S40A,COLGALT2:NM_015101:exon3:c.T478G:p.S160A	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00519244301502	0.0027	0.00119808	0.0007	0.0070	0.0005	0	0	0	0	6.101e-05	0.0005951	92	154602	rs111467167	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0063	0.0061	0.0071	0.0004	0	0	0	0.0009	2.701e-06	0.0008	9.279e-05	0.0021	0.0021	0.0021	0.0022	0.0075	0.0019	0.0019	0.0068	0.0066	0.0075	0	0.0006	0	0	0	0	1.47e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.012	0.16012	B	0.000011	0.62929	D	0.067535	0.999773	0.48980	D	-1.525	0.00485	N	0.37	0.57729	T	1.66	0.00606	N	0.39	0.43126	-0.9602	0.39143	T	0.030	0.12935	T	10	0.0072930753	0.00166	T	0.005192	0.13218	T	0.077	0.22490	.	.	0.334659703779	0.33074	0.7867157743591766	0.78623	0.249879800669	0.27567	0.582294106483	0.50408	T	0.021098	0.16491	T	-0.4793	0.00746	T	-0.456411	0.26990	T	0.0378335658106943	0.03303	T	0.644736	0.25622	T	0.16635066	0.36964	0.09382709	0.22180	0.16635066	0.36963	0.09382709	0.22179	1.318	0.00098	T	.	.	0.073	0.04640	B	.;.	.;.	2.081065	0.26466	17.13	0.3954650184150994	0.02735	0.84727	0.43814	D	AEFBI	0.445141	0.50174	N	-0.518753625333691	0.21473	1.139878	-0.20529382421824	0.31344	1.773068	0.999999372985293	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	3.496000	0.53050	9.328000	0.80106	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.386	0.74422	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1321.33	33	chr1	183975111	.	A	C	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=759;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.246;SOR=0.847	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	18	0	1	0
chr1	185144020	185144020	G	A	exonic	TRMT1L	.	nonsynonymous SNV	TRMT1L:NM_001202423:exon6:c.C197T:p.A66V,TRMT1L:NM_030934:exon6:c.C665T:p.A222V	.	449	1061	10	2	0	14	0.00655431	.	.	.	2806249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00341098966616	0.0042	0.00139776	0.0045	0.0008	0.0029	0	0.0022	0.0068	0.0034	0.0018	0.0048188	745	154602	rs114355007	0.0068	0.0068	0.0069	0.0066	0.0082	0.0066	0.0066	0.0080	0.0080	0.0012	0.0031	0.0016	0	0.0028	0.0032	0.0082	0.0043	0.0015	0.0043	0.0043	0.0044	0.0042	0.0072	0.0040	0.0039	0.0067	0.0065	0.0015	0.0011	0.0035	0.0012	0	0.0029	0.0068	0.0072	0.0062	0.0006	0.142	0.25457	T	0.363	0.16815	T	0.112	0.26290	B	0.039	0.23607	B	0.404776	0.13076	N	0.744172	0.976363	0.25378	N	1.355	0.33814	L	.	.	.	-0.56	0.17003	N	0.044	0.01658	-1.0412	0.16951	T	0.060	0.25237	T	9	0.006470114	0.00146	T	0.003411	0.07664	T	0.031	0.07369	.	.	0.043077524339	0.03247	0.4167891026389075	0.41594	0.313589551721	0.33647	0.279151499271	0.07374	T	0.151736	0.49181	T	-0.552184	0.00283	T	-0.551671	0.17165	T	0.00486766945901861	0.00052	T	0.650435	0.26116	T	0.026074914	0.01620	0.041395884	0.04694	0.026074914	0.01619	0.041395884	0.04694	-3.598	0.17828	T	.	.	0.080	0.07602	B	.	.	1.388053	0.18001	13.49	0.86906625111961955	0.16854	0.87424	0.46959	D	AEFBI	0.263151	0.38075	N	-0.531930513610192	0.21053	1.114526	-0.42842891117944	0.24167	1.321895	0.199165647797193	0.18100	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.03	2.14	0.26518	1.497000	0.35257	3.126000	0.36421	-0.375000	0.05424	1.000000	0.71638	0.998000	0.33993	0.857000	0.40602	0.2306:0.0:0.7694:0.0	9.086	0.35745	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.004076	0.005882	0.000000	0.008621	0.003049	0.003788	0.02632	816.33	33	chr1	185144020	.	G	A	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.318;DP=690;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.42;SOR=0.394	GT:AD:DP:GQ:PL	0/1:35,35:70:99:830,0,952	18	0	1	0
chr1	185965867	185965867	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon14:c.G2164A:p.E722K	.	.	.	.	.	.	.	.	.	.	.	277846	Age_related_macular_degeneration_1|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0838323617271	0.0009	.	0.0007	0	0.0002	0	0	0.0012	0.0011	6.057e-05	0.0006145	95	154602	rs34692227	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	2.994e-05	0.0003	0.0158	0	0	0.0021	0.0001	0.0014	2.32e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	9.056e-05	7.018e-05	0	0	0.0002	0.0144	0	0	0	0.0002	0.0005	0	0.539	0.06824	T	0.02	0.58613	D	0.302	0.32608	B	0.36	0.43183	B	0.000004	0.62929	D	0.103031	0.999995	0.58761	D	1.23	0.30720	L	-0.29	0.67712	T	-1.88	0.43906	N	0.758	0.75650	-0.6881	0.60997	T	0.309	0.67958	T	10	0.021733731	0.00527	T	0.083832	0.74198	D	0.249	0.55752	.	.	0.750119961027	0.74786	0.7697103094894022	0.76920	0.104594457088	0.11836	0.671217679977	0.63011	T	.	.	.	-0.075386	0.40462	T	-0.0485038	0.67125	D	0.0336835851475548	0.02585	T	0.880812	0.59928	D	0.28152493	0.51194	0.21212713	0.45670	0.28152493	0.51194	0.21212713	0.45669	-5.828	0.44818	T	.	.	0.190	0.40858	B	.	.	3.748574	0.53721	23.4	0.99906450630146304	0.97726	0.96494	0.69419	D	AEFBI	0.777960	0.71061	D	0.193299339228628	0.50876	3.273649	0.3409681816546	0.57965	3.964535	0.999999999999009	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.7	5.7	0.88690	6.098000	0.71106	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	19.841	0.96682	422	0.81333	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1059.33	33	chr1	185965867	.	G	A	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.685;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=1.92;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1267	18	0	1	0
chr1	186038858	186038858	C	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon38:c.C5881T:p.L1961F	.	.	.	.	.	.	.	.	.	.	.	862988	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.407	0.0302201344096	0.0009	.	0.0007	0	0.0002	0.0001	0	0.0012	0.0011	6.059e-05	0.0006339	98	154602	rs140559544	0.0005	0.0005	0.0005	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	0.0001	0.0003	0.0158	0	0	0.0024	0.0001	0.0014	4.649e-05	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	9.049e-05	7.013e-05	0	0	0.0001	0.0144	0	0	0	0.0002	0.0009	0	0.008	0.58626	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.495	0.72670	M	-0.65	0.72237	T	-2.54	0.55025	D	0.719	0.72120	-0.0527	0.81149	T	0.481	0.80154	T	10	0.039586127	0.02459	T	0.03022	0.52574	D	0.407	0.71946	.	.	0.827018898375	0.82538	0.5282940638055543	0.52753	0.476195336996	0.46760	0.389401644468	0.23586	T	.	.	.	-0.140375	0.29830	T	-0.139091	0.60197	T	0.0910521129283513	0.11342	T	0.754325	0.37688	T	0.30536538	0.53381	0.20863546	0.45173	0.30536538	0.53381	0.20863546	0.45172	-7.893	0.60339	D	.	.	0.127	0.26917	B	.	.	4.733566	0.76271	26.5	0.99772224120767294	0.86003	0.96027	0.67203	D	AEFI	0.431439	0.49373	N	0.320600815243593	0.57207	3.887197	0.207528189544349	0.50264	3.220345	0.551711469233484	0.21339	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	6.06	5.15	0.70287	5.324000	0.65643	4.016000	0.41206	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.020000	0.11549	0.0:0.9314:0.0:0.0686	14.982	0.70970	406	0.82375	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	624.33	33	chr1	186038858	.	C	T	624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=670;ExcessHet=0;FS=2.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=1.1;SOR=1.006	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	18	0	1	0
chr1	186103490	186103490	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon69:c.G10592A:p.G3531E	.	424	1092	5	1	0	7	0.00319489	.	.	.	1477498	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0486677188173	.	.	0.0001	0	0	0	0	6.014e-05	0	0.0006	9.06e-05	14	154602	rs752255369	4.723e-05	4.72e-05	2.861e-05	6.604e-05	0.0005	3.796e-05	3.478e-05	0.0003	0.0003	0	0	0	0	0	0.0005	1.8e-05	0.0001	0.0005	3.946e-05	3.941e-05	2.571e-05	5.387e-05	0.0006	1.717e-05	1.13e-05	0.0002	9.007e-05	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.187	0.21385	T	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.095664	1	0.81001	D	1.52	0.38360	L	-0.09	0.64086	T	-2.35	0.51968	N	0.591	0.61087	-0.7073	0.60085	T	0.275	0.64639	T	10	0.38278577	0.54319	T	0.048668	0.63474	D	0.328	0.65026	0.411	0.44723	0.793044301672	0.79112	0.7782033608870618	0.77770	0.471827866545	0.46434	0.472764074802	0.35060	T	.	.	.	-0.264924	0.12329	T	-0.261944	0.48629	T	0.243939206004143	0.22599	T	0.824517	0.48627	T	0.2913661	0.52119	0.3599806	0.61447	0.2913661	0.52119	0.3599806	0.61447	-7.347	0.56529	T	.	.	0.139	0.30423	B	.	.	3.552361	0.49947	22.9	0.99338034137003228	0.60051	0.97855	0.77635	D	AEFGBI	0.798879	0.72529	D	0.422430981053957	0.62657	4.485299	0.422516475874003	0.62970	4.521868	0.999999960008334	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620204	0.46100	0	.	.	5.45	3.56	0.39892	6.322000	0.72847	6.618000	0.56110	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0688:0.1276:0.8036:0.0	11.241	0.48199	445	0.79730	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1573.33	39	chr1	186103490	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.804;SOR=0.733	GT:AD:DP:GQ:PL	0/1:90,68:158:99:1587,0,2133	18	0	1	0
chr1	186151226	186151226	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon94:c.G14635A:p.V4879I	.	422	1098	2	0	0	2	0.000909918	.	.	.	1491593	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0265056297975	.	.	0.0001	0	0	0	0	2.998e-05	0	0.0007	8.41e-05	13	154602	rs747136780	2.805e-05	2.805e-05	1.089e-05	4.539e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	2.698e-06	6.624e-05	0.0004	6.58e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.492	0.07944	T	0.353	0.17320	T	0.001	0.07471	B	0.004	0.10090	B	0.002286	0.36846	N	0.267696	0.719879	0.33606	D	0.005	0.07933	N	1.06	0.39781	T	-0.02	0.07299	N	0.101	0.08366	-1.0415	0.16860	T	0.046	0.19720	T	10	0.08444551	0.14154	T	0.026506	0.49411	D	0.079	0.23065	0.784	0.90768	0.337378238328	0.33340	0.16533228555958585	0.16453	0.36447533085	0.38064	0.416179895401	0.27311	T	.	.	.	-0.510521	0.00499	T	-0.628374	0.10538	T	0.0497614760534463	0.05459	T	0.842116	0.51841	T	0.052867506	0.09923	0.037253555	0.03340	0.052867506	0.09923	0.037253555	0.03339	-1.192	0.01239	T	.	.	0.075	0.05668	B	.	.	2.498837	0.32255	18.99	0.86124276572629277	0.16329	0.77629	0.38191	D	AEFBI	0.191168	0.31837	N	-0.375791020019519	0.26334	1.436447	-0.162576666805838	0.32926	1.878244	0.999724137315078	0.42220	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.13	4.21	0.48984	1.997000	0.40406	6.706000	0.56386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.171:0.0:0.676:0.153	5.965	0.18553	707	0.57054	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1420.33	33	chr1	186151226	.	G	A	1420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=757;ExcessHet=0;FS=2.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.28;SOR=0.499	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1434,0,1392	18	0	1	0
chr1	186172049	186172049	C	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon102:c.C15732G:p.H5244Q	.	427	1089	6	0	0	6	0.00274725	.	.	.	278045	Age_related_macular_degeneration_1|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0010	0.0209665	0.0091	0.0008	0.0067	0.0757	0.0182	0.0027	0.0044	0.0036	0.0084475	1306	154602	rs75161007	0.0050	0.0050	0.0050	0.0049	0.0912	0.0049	0.0048	0.0887	0.0877	0.0007	0.0061	0.0028	0.0912	0.0203	0.0010	0.0013	0.0052	0.0041	0.0062	0.0062	0.0043	0.0082	0.0746	0.0059	0.0057	0.0685	0.0661	0.0010	0	0.0027	0.0023	0.0746	0.0223	0	0.0025	0.0057	0.0093	0.734	0.05755	T	0.542	0.09690	T	0.01	0.15535	B	0.015	0.17295	B	0.000546	0.43413	D	0.257900	0.707318	0.30047	N	-1.22	0.00816	N	-2.95	0.91903	D	-0.85	0.35792	N	0.239	0.26957	-0.9027	0.47705	T	0.015	0.06234	T	10	0.0047116876	0.00099	T	.	.	.	0.259	0.57090	0.498	0.58835	0.649331161701	0.64641	0.27120655992590964	0.27033	0.448532232731	0.44678	0.513846695423	0.40761	T	0.194673	0.55052	T	-0.431381	0.01454	T	-0.305572	0.44134	T	0.0139865693191766	0.00269	T	0.250975	0.17878	T	0.06952151	0.15238	0.07239204	0.15614	0.08270153	0.19063	0.06453064	0.12947	-1.106	0.01124	T	.	.	0.127	0.39442	B	.;.	.;.	2.315785	0.29649	18.19	0.98037979254178143	0.37766	0.69755	0.34314	D	AEFI	0.168148	0.29488	N	-0.716422282407108	0.15561	0.7852463	-0.490710222165787	0.22408	1.216969	0.00167856418043122	0.08770	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.29	1.25	0.20475	0.184000	0.16748	-0.202000	0.10935	0.599000	0.40250	0.982000	0.35529	0.271000	0.24048	0.999000	0.91618	0.0:0.4838:0.114:0.4022	6.721	0.22521	764	0.49969	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.006135	0.000000	0.02632	1588.33	33	chr1	186172049	.	C	G	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.063;DP=752;ExcessHet=0;FS=3.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.232;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr1	186182258	186182258	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon105:c.A16385G:p.Q5462R	.	417	1095	10	0	0	10	0.00454545	.	.	.	706935	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.105142489045	0.0029	0.000798722	0.0022	0.0006	0.0049	0	0.0002	0.0029	0.0044	0.0002	0.0021151	327	154602	rs35856562	0.0031	0.0031	0.0031	0.0031	0.0038	0.0030	0.0030	0.0034	0.0034	0.0008	0.0031	0.0064	0	0.0001	0.0038	0.0035	0.0033	0.0003	0.0019	0.0019	0.0022	0.0015	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0	0.0017	0.0055	0	9.409e-05	0.0136	0.0030	0.0005	0.0002	0.955	0.02121	T	1.0	0.01155	T	0.002	0.09854	B	0.004	0.10090	B	0.001513	0.38793	N	0.307408	0.909424	0.27538	N	-0.225	0.03956	N	-3.38	0.94161	D	1.68	0.01839	N	0.201	0.22228	-0.6217	0.63918	T	0.436	0.77612	T	10	0.011597693	0.00253	T	0.105142	0.78010	D	0.171	0.43483	.	.	0.774371627912	0.77229	0.38727799612058944	0.38642	0.284658199445	0.30886	0.339096754789	0.16302	T	0.130357	0.45920	T	-0.384662	0.02911	T	-0.328367	0.41650	T	0.0124140793636833	0.00203	T	0.768423	0.46271	T	0.037489317	0.04815	0.053567965	0.09047	0.044496614	0.07122	0.04633494	0.06434	-0.356	0.00502	T	.	.	0.074	0.19998	B	.;.	.;.	1.545503	0.19817	14.45	0.83466165221705935	0.14741	0.53302	0.29339	D	AEFBI	0.102192	0.20505	N	-0.58428299943687	0.19422	1.016341	-0.351901508768563	0.26449	1.461053	0.999633445047171	0.41205	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.42	3.13	0.35090	1.996000	0.40396	1.924000	0.29729	0.756000	0.94297	0.976000	0.34826	0.239000	0.23838	0.954000	0.50415	0.7168:0.0:0.2832:0.0	8.288	0.31102	675	0.60470	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1080.33	35	chr1	186182258	.	A	G	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.288;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.286;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1174	18	0	1	0
chr1	186308093	186308093	A	C	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.A1972C:p.T658P,PRG4:NM_001127709:exon5:c.A2095C:p.T699P,PRG4:NM_001127708:exon6:c.A2251C:p.T751P,PRG4:NM_001303232:exon6:c.A2245C:p.T749P,PRG4:NM_005807:exon7:c.A2374C:p.T792P	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00207610588676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.849e-07	1.363e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.39575	T	0.059	0.45961	T	0.0	0.02946	B	0.0	0.04355	B	0.001807	0.37945	U	0.000000	1	0.18198	N	1.955	0.52871	M	3.52	0.05918	T	-2.23	0.50012	N	0.125	0.13198	-0.9796	0.35094	T	0.011	0.03996	T	9	0.088932365	0.15359	T	0.002076	0.03801	T	0.045	0.12272	0.186	0.09517	0.0138822411134	0.00435	0.10153448433659129	0.10084	0.0417599368484	0.04490	0.212587073445	0.00926	T	0.022793	0.24578	T	-0.213879	0.18835	T	-0.544999	0.17808	T	0.144416144420592	0.16649	T	0.609039	0.48908	T	0.15652183	0.35318	0.13733962	0.32831	0.15652183	0.35318	0.13733962	0.32830	-8.603	0.66700	D	.	.	0.172	0.46927	B	.;.;.;.;.	.;.;.;.;.	1.120166	0.15057	11.55	0.52671622940748974	0.04792	0.01246	0.04390	N	AEFDI	0.239962	0.36183	N	-1.27664825377206	0.03958	0.1777875	-1.43254736994857	0.02932	0.1358148	0.0532229768401132	0.14931	0.428477	0.06694	0	0.514364	0.08380	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.72	-5.44	0.02419	-0.073000	0.11428	-0.173000	0.11207	0.405000	0.20585	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1965:0.462:0.1882:0.1533	2.232	0.03755	259	0.89842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3629.33	413	chr1	186308093	.	A	C	3629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.122;DP=1338;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=0.464;QD=8.79;ReadPosRankSum=-0.57;SOR=0.605	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1310	18	0	1	0
chr1	186367938	186367938	T	G	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0453209994512	.	.	8.642e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs747303433	4.112e-06	4.104e-06	5.456e-06	2.755e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.233	0.30926	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1.000	0.47320	D	2.295	0.65404	M	1.53	0.30401	T	-1.36	0.33798	N	0.633	0.77039	-1.0120	0.26291	T	0.117	0.41209	T	10	0.5735104	0.65450	D	0.045321	0.61926	D	0.198	0.48105	0.244	0.17830	0.490693190711	0.48701	0.4342097366556817	0.43337	0.466613555012	0.46060	0.670502722263	0.62910	T	0.036415	0.24096	T	0.0928061	0.63503	D	-0.040821	0.67645	D	0.844201743602753	0.49674	D	0.963204	0.91007	D	0.6733976	0.76615	0.35537648	0.61066	0.6733976	0.76616	0.35537648	0.61065	-3.334	0.14180	T	.	.	0.581	0.68094	P	.;.	.;.	4.432966	0.68763	25.3	0.99513504139471454	0.68799	0.96593	0.69919	D	AEFGBI	0.654002	0.62684	D	0.463460799787433	0.64971	4.764123	0.473582472609067	0.66245	4.927008	0.997942040630651	0.36224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.81	0.43020	4.786000	0.62117	4.137000	0.42065	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.143:0.0:0.857	9.329	0.37172	307	0.87649	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	764.33	36	chr1	186367938	.	T	G	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=704;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=1.87;SOR=0.841	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1393	18	0	1	0
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V,PLA2G4A:NM_024420:exon16:c.A1909G:p.I637V	Phospholipase A2, group IV A, deficiency of (3)	421	1040	59	2	0	63	0.029398	.	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.041289	0.010101	0.044837	0.084795	0.050000	0.060345	0.024390	0.018939	0.02632	692.33	33	chr1	186977737	.	A	G	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.139;DP=706;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.007;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr1	190098119	190098119	G	T	exonic	BRINP3	.	nonsynonymous SNV	BRINP3:NM_001317188:exon7:c.C1894A:p.L632M,BRINP3:NM_199051:exon8:c.C2200A:p.L734M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.015280078849	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051491819	6.156e-06	6.156e-06	4.084e-06	8.25e-06	1.159e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.09	0.40267	T	0.998	0.73220	D	0.99	0.78936	D	0.000002	0.62929	D	0.000000	0.999202	0.46326	D	2.08	0.57402	M	1.73	0.26445	T	-1.27	0.31981	N	0.8	0.79599	-0.9189	0.45702	T	0.147	0.47129	T	10	0.67981124	0.71211	D	0.01528	0.35920	T	0.239	0.54358	0.26	0.20315	0.42805410278	0.42423	0.5942186773620967	0.59351	0.729175682278	0.62649	0.77270424366	0.77829	T	0.136709	0.46923	T	0.0802228	0.62068	D	-0.122542	0.61593	T	0.922818541526794	0.58314	D	0.839216	0.51320	T	0.50185287	0.67203	0.43658304	0.67106	0.50185287	0.67204	0.43658304	0.67106	-5.281	0.39754	T	.	.	0.323	0.54689	B	.	.	4.108402	0.61310	24.3	0.99460689863903629	0.65788	0.90000	0.50843	D	AEFDCI	0.823473	0.74357	D	0.527106436178614	0.68697	5.253177	0.47540381795571	0.66363	4.942498	0.0332549029867327	0.14096	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	2.33	0.27981	4.908000	0.63003	4.463000	0.43466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2573:0.0:0.7427:0.0	10.476	0.43852	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1468.33	39	chr1	190098119	.	G	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.069;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.572;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	18	0	1	0
chr1	192809082	192809082	C	G	exonic	RGS2	.	nonsynonymous SNV	RGS2:NM_002923:exon1:c.C11G:p.A4G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0257903959881	.	0.000199681	1.648e-05	9.645e-05	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs142499684	8.902e-06	8.893e-06	6.814e-06	1.101e-05	0.0005	4.97e-06	3.83e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.004e-06	0	0	6.566e-06	6.561e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.514	0.10678	T	0.0	0.02946	B	0.0	0.01387	B	0.056422	0.22561	N	0.399083	0.731626	0.33725	D	0.805	0.20218	L	-0.65	0.72237	T	-0.78	0.21644	N	0.326	0.36674	-0.6637	0.62113	T	0.187	0.53782	T	10	0.18033805	0.33212	T	0.02579	0.48740	D	0.121	0.33580	0.265	0.21103	0.88721644273	0.88610	0.29817331634575245	0.29730	0.0609495393058	0.06783	0.391966998577	0.23947	T	0.431972	0.77991	T	-0.240258	0.15315	T	-0.401362	0.33226	T	0.386037051677704	0.28414	T	0.716728	0.32905	T	0.0955725	0.22494	0.08864744	0.20682	0.0955725	0.22494	0.08864744	0.20682	-3.388	0.14896	T	.	.	0.169	0.37216	B	.	.	1.547204	0.19836	14.46	0.99294653945563827	0.58397	0.89164	0.49466	D	ALL	0.296219	0.40613	N	-0.340794173746003	0.27611	1.516338	-0.217467002928294	0.30908	1.744491	0.999999999999993	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.52	0.39415	0.241000	0.17843	0.426000	0.18273	-0.176000	0.10722	0.703000	0.28654	0.814000	0.27065	0.004000	0.06068	0.0:0.8991:0.0:0.1009	10.136	0.41878	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1186.33	33	chr1	192809082	.	C	G	1186.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.652;DP=739;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=2.04;SOR=0.826	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr1	196334041	196334041	C	A	exonic	KCNT2	.	nonsynonymous SNV	KCNT2:NM_001287820:exon16:c.G1653T:p.L551F,KCNT2:NM_001287819:exon17:c.G1803T:p.L601F,KCNT2:NM_198503:exon17:c.G1803T:p.L601F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.012105287825	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201543486	6.846e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41096	T	0.036	0.53072	D	0.001	0.20732	B	0.012	0.24256	B	0.000361	0.45440	D	0.000000	0.996586	0.44459	D	2.025	0.55430	M	1.98	0.36512	T	-1.89	0.46503	N	0.336	0.46555	-1.0652	0.10502	T	0.083	0.32527	T	10	0.14280558	0.27120	T	0.012105	0.30367	T	0.053	0.14996	0.317	0.29419	0.0675242888579	0.06100	0.43125153942951505	0.43042	0.616326265864	0.56095	0.763530135155	0.76456	T	0.08949	0.38383	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.481928139925003	0.31968	T	0.958004	0.84234	D	0.11447911	0.27025	0.12778498	0.30755	0.11447911	0.27025	0.12778498	0.30754	-12.046	0.85074	D	.	.	0.463	0.65616	A	.;.;.;.	.;.;.;.	2.382206	0.30579	18.48	0.99583402547239686	0.73159	0.28146	0.23473	N	AEFI	0.330168	0.43029	N	-0.469291829117066	0.23091	1.237592	-0.423259572657237	0.24317	1.330898	1.76826620748042E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.5	2.41	0.28644	-1.740000	0.01938	0.818000	0.21820	0.517000	0.23534	0.001000	0.13787	0.999000	0.35428	0.998000	0.85391	0.0:0.6389:0.0:0.3611	6.76	0.22723	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	640.33	33	chr1	196334041	.	C	A	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.19;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr1	196673893	196673893	G	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.G281A:p.G94D,CFH:NM_001014975:exon3:c.G281A:p.G94D	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.186909573964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.987081	0.40533	D	.	.	.	-1.65	0.82625	D	-4.31	0.77308	D	0.912	0.95725	0.936	0.96193	D	0.828	0.94214	D	9	0.9921434	0.99749	D	0.18691	0.85905	D	0.797	0.93346	0.959	0.99568	0.985260113832	0.98510	0.9760732407510359	0.97597	0.715526014082	0.61961	0.549154639244	0.45738	T	0.349096	0.71700	T	0.419611	0.91000	D	0.364965	0.90888	D	0.997110605239868	0.90803	D	0.855114	0.54441	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.94308	P	.;.;.	.;.;.	4.769637	0.77191	26.7	0.99787654259911507	0.87396	0.89229	0.49569	D	AEFBI	0.906526	0.85940	D	0.868372570351099	0.90127	10.26504	0.722196949119309	0.84066	8.189154	0.658161663347331	0.22241	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	6.160000	0.71673	11.765000	0.95720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0:0.0:1.0:0.0	14.826	0.69746	545	0.72614	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	39	chr1	196673893	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.725;DP=776;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.27;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	18	0	1	0
chr1	196736872	196736872	A	G	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon16:c.A2462G:p.H821R	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0418968334688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395e-06	2.736e-06	1.388e-06	1.403e-06	0.0004	2.3e-07	9e-08	6.194e-05	2.559e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.44	0.69777	T	0.52	0.02853	N	0.038	0.01203	-1.0439	0.16148	T	0.093	0.35255	T	9	0.06117618	0.07630	T	0.041897	0.60175	D	0.077	0.22490	0.619	0.75347	0.425367727682	0.42151	0.6236417181150219	0.62297	0.171411341593	0.19308	0.232584148645	0.02165	T	.	.	.	-0.311921	0.07580	T	-0.685829	0.06633	T	0.0200622288795456	0.00707	T	0.0955904	0.00712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00274	B	.	.	-1.339647	0.00406	0.008	0.15197893449237174	0.00363	0.01697	0.05402	N	AEFBI	0.446621	0.50260	N	-1.9724559977876	0.00242	0.01038406	-1.9302454822199	0.00426	0.01884986	2.56740196394374E-5	0.03498	0.706298	0.61202	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.84	-2.79	0.05494	-1.748000	0.01925	-5.201000	0.01809	-1.519000	0.01006	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.508:0.0:0.279:0.213	4.826	0.12781	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2264.33	34	chr1	196736872	.	A	G	2264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=863;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.037;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	18	0	1	0
chr1	196788400	196788400	T	C	splicing	CFHR3	NM_021023:exon4:c.613+2T>C	.	.	.	662	853	5	2	0	9	0.00524781	0.9986	0.59	.	777070	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00159744	0.0041	0.0010	0.0009	0.0008	0.0011	0.0042	0.0059	0.0113	0.0034346	531	154602	rs138839071	0.0036	0.0035	0.0034	0.0038	0.0107	0.0035	0.0035	0.0101	0.0098	0.0007	0.0006	4.137e-05	0.0004	0.0030	0.0073	0.0035	0.0040	0.0107	0.0025	0.0025	0.0026	0.0023	0.0080	0.0023	0.0022	0.0058	0.0051	0.0005	0	0.0008	0	0.0010	0.0030	0	0.0037	0.0027	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.387762	0.02781	T	-0.320375	0.42533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.977034	0.58442	24.0	0.88683260554106547	0.18171	0.48316	0.28179	N	AEFGI	.	.	.	0.588779939643882	0.72473	5.811	0.300628380326113	0.55577	3.720569	8.00903597144056E-5	0.04552	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.226647	0.31609	2.94	2.94	0.33188	1.713000	0.37570	4.313000	0.42975	0.473000	0.21965	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:0.0:1.0	7.756	0.28093	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	786.42	19	chr1	196788400	.	T	C	786.42	.	AC=2;AF=0.059;AN=34;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.059;MQ=45.81;QD=25.37;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1326	16	1	0	2
chr1	196994081	196994081	A	T	exonic	CFHR5	.	nonsynonymous SNV	CFHR5:NM_030787:exon4:c.A432T:p.K144N	Nephropathy due to CFHR5 deficiency, Autosomal dominant	60	1446	16	0	0	16	0.00550206	0.0016	0.016	.	863132	not_provided|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_specified	MedGen:C3661900|MedGen:CN071292|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.00988982554081	0.0007	0.00119808	0.0012	0.0002	0.0036	0	0.0002	0.0014	0.0023	0.0004	0.0011255	174	154602	rs181511327	0.0007	0.0007	0.0007	0.0008	0.0071	0.0007	0.0007	0.0054	0.0048	0.0002	0.0021	0.0035	0	0.0003	0.0071	0.0006	0.0016	0.0005	0.0008	0.0008	0.0009	0.0008	0.0012	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0012	0.0049	0.0002	9.418e-05	0	0.0011	0.0014	0.0008	0.232	0.18184	T	0.506	0.10967	T	0.058	0.22967	B	0.033	0.22329	B	.	.	.	.	0.999878	0.19925	N	1.21	0.30464	L	1.55	0.29866	T	-0.36	0.13035	N	0.266	0.30118	-0.9709	0.37009	T	0.186	0.53511	T	9	0.0099051	0.00222	T	0.00989	0.25766	T	0.028	0.06331	0.433	0.48336	0.369309618794	0.36543	0.27030200952718725	0.26943	0.0159579950925	0.01529	0.30111297965	0.10566	T	0.001023	0.00556	T	-0.662324	0.00061	T	-0.730944	0.04285	T	0.00420356281884647	0.00045	T	0.334567	0.07109	T	0.044134695	0.07000	0.05324926	0.08933	0.03527353	0.04119	0.05571365	0.09825	-2.926	0.09406	T	.	.	0.146	0.32251	B	.	.	0.870787	0.12438	8.970	0.93613116152483089	0.23476	0.06618	0.12634	N	AEFI	0.104535	0.20912	N	-0.98912680347246	0.08836	0.4158167	-0.975181526954504	0.10345	0.5204097	4.16000442167565E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	2.81	0.31971	0.252000	0.18046	2.064000	0.30409	0.573000	0.29008	0.235000	0.24695	0.852000	0.27401	0.010000	0.09038	0.7624:0.0:0.0:0.2376	6.388	0.20777	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.020202	0.008152	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	614.33	21	chr1	196994081	.	A	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.944;DP=522;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.935;SOR=0.752	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,741	18	0	1	0
chr1	197061877	197061877	A	T	exonic	F13B	.	nonsynonymous SNV	F13B:NM_001994:exon3:c.T358A:p.S120T	Factor XIIIB deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0627093392034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	1.873e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.06	0.45744	T	0.65	0.40644	P	0.505	0.47795	P	0.225357	0.16042	N	0.357114	0.999996	0.08975	N	2.36	0.67893	M	-0.11	0.64445	T	-1.02	0.26843	N	0.27	0.30574	-0.8417	0.52533	T	0.236	0.60282	T	10	0.44615257	0.58409	T	0.062709	0.68739	D	0.074	0.21613	0.384	0.40298	0.753458437225	0.75122	0.5012898226299024	0.50050	0.447856127742	0.44639	0.400100380182	0.25083	T	0.190183	0.54464	T	-0.114043	0.34102	T	-0.401591	0.33198	T	0.392917960882187	0.28675	T	0.613539	0.23382	T	0.15413383	0.34902	0.21995671	0.46753	0.15413383	0.34902	0.21995671	0.46752	-3.871	0.21869	T	0.4597932038298085	0.54217	0.079	0.07318	B	.	.	2.238418	0.28578	17.84	0.97661795318863698	0.35201	0.18078	0.20110	N	AEFGI	0.163014	0.28925	N	-0.238405916857489	0.31569	1.771463	-0.323175113659531	0.27351	1.517117	2.1094791715823E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.85	3.51	0.39297	1.507000	0.35365	1.159000	0.24539	0.756000	0.94297	0.352000	0.25776	0.043000	0.21642	0.253000	0.23340	0.572:0.277:0.1511:0.0	5.463	0.15921	198	0.92335	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	921.33	34	chr1	197061877	.	A	T	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.145;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1161	18	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	4	1426	86	6	0	98	0.0332203	.	.	.	101785	ASPM-related_disorder|not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.014620	0.100000	0.051724	0.033537	0.015152	0.07895	7235.79	51	chr1	197104066	.	G	A	7235.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.054;DP=1999;ExcessHet=0.3672;FS=1.733;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.335;SOR=0.573	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	3	0
chr1	197143319	197143319	G	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C933G:p.S311R,ASPM:NM_018136:exon3:c.C933G:p.S311R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	206754	not_specified|Inborn_genetic_diseases|Microcephaly_5,_primary,_autosomal_recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0171683685263	.	0.000599042	0.0008	0	0	0	0	0.0003	0.0022	0.0042	0.0006145	95	154602	rs563858170	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	2.236e-05	0	0	0	0.0029	0.0001	0.0008	0.0051	0.0002	0.0002	0.0001	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0044	0.005	0.63226	D	0.014	0.63109	D	0.196	0.29532	B	0.036	0.22909	B	0.391828	0.13244	N	0.731127	1	0.08975	N	1.83	0.48079	L	0.3	0.58755	T	-1.29	0.32791	N	0.222	0.26475	-0.9186	0.45743	T	0.154	0.48360	T	10	0.0045710206	0.00095	T	0.017168	0.38759	T	0.029	0.06676	0.191	0.10171	0.43656330218	0.43278	0.3086480884578543	0.30777	.	.	0.340711534023	0.16545	T	0.060068	0.31287	T	-0.408179	0.02044	T	-0.358831	0.38188	T	0.0191107464688734	0.00619	T	0.885811	0.61875	D	0.101184465	0.23898	0.1190928	0.28747	0.0968517	0.22820	0.08680904	0.20136	-5.32	0.40140	T	0.5299856242699648	0.60099	0.290	0.59114	B	.;.	.;.	1.870761	0.23763	16.14	0.98964838799415278	0.49403	0.62908	0.31925	D	AEFDGBIJ	0.115250	0.22668	N	-0.339159947051418	0.27672	1.520157	-0.310895020964569	0.27745	1.541806	0.999985674901629	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.677038	0.66255	0	.	.	5.49	1.65	0.23015	0.630000	0.24244	3.447000	0.38420	0.665000	0.62972	0.902000	0.31475	1.000000	0.68203	0.808000	0.38083	0.2309:0.0:0.6095:0.1596	5.120	0.14189	214	0.91692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004536	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.007576	0.02632	2064.33	34	chr1	197143319	.	G	C	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=812;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.359;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr1	197539969	197539969	C	T	exonic	DENND1B	.	nonsynonymous SNV	DENND1B:NM_001195215:exon20:c.G1510A:p.A504T	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.000998403	0.0006	0	0	0	0	0.0002	0	0.0038	0.0005304	82	154602	rs571739697	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0037	0	6.742e-05	0	0	0	0.0024	7.299e-05	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	2.406e-05	0	6.534e-05	0	0	0	0	7.351e-05	0	0.0043	.	.	.	0.761	0.04619	T	.	.	.	.	.	.	0.000769	0.41888	U	0.091059	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0187	0.24139	T	0.042	0.18202	T	10	0.00928393	0.00210	T	.	.	.	.	.	.	.	0.0675242888579	0.06100	0.22223272646128783	0.22138	.	.	0.235650122166	0.02412	T	.	.	.	-0.704896	0.00034	T	-0.786466	0.02263	T	0.009175389657142	0.00116	T	0.776822	0.40920	T	0.024096845	0.01209	0.074931145	0.16445	0.024096845	0.01209	0.074931145	0.16444	-3.917	0.22557	T	.	.	0.072	0.04316	B	.	.	0.282817	0.06594	3.088	0.68813534700244283	0.08775	0.48010	0.28111	N	AEFGI	0.073533	0.14711	N	-0.914312181802754	0.10507	0.5024041	-0.918046549795543	0.11669	0.5958643	0.0181878452357043	0.13031	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	-2.45	0.06107	0.068000	0.14398	-0.314000	0.10017	0.599000	0.40250	0.878000	0.30948	0.000000	0.08366	0.060000	0.15972	0.5666:0.3006:0.0:0.1328	7.595	0.27207	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	560.33	33	chr1	197539969	.	C	T	560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.708;DP=673;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.376;SOR=0.465	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	200560880	200560880	C	T	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_001305792:exon24:c.G2599A:p.G867R,KIF14:NM_014875:exon26:c.G4072A:p.G1358R	.	.	.	.	.	.	.	.	0.9989	0.894	.	3224888	Microcephaly_20,_primary,_autosomal_recessive	MONDO:MONDO:0054761,MedGen:C4693572,OMIM:617914	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.363e-06	2.753e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.977	0.58535	D	0.88	0.62516	P	0.000037	0.55875	D	0.123078	0.999786	0.49076	D	2.57	0.75187	M	-1.55	0.81727	D	-6.25	0.90568	D	0.691	0.72477	0.453	0.89883	D	0.685	0.89136	D	10	0.8161094	0.80849	D	0.125312	0.80681	D	0.522	0.79704	0.47	0.54376	0.96278049941	0.96238	0.7692362278569684	0.76872	0.471967568472	0.46443	0.596073448658	0.52350	T	0.366527	0.73176	T	0.119093	0.66281	D	-0.0667072	0.65861	T	0.992022395133972	0.82411	D	0.876112	0.58827	D	0.7420521	0.80410	0.7419823	0.84749	0.7420521	0.80411	0.7419823	0.84750	-3.498	0.16403	T	.	.	0.932	0.85168	P	.;.	.;.	5.351283	0.89766	31	0.99920655203651776	0.98721	0.94095	0.60097	D	AEFBI	0.661061	0.63141	D	0.62235378818171	0.74589	6.15867	0.57850726479854	0.73400	5.964508	0.999962596529887	0.48965	0.706298	0.61202	0	0.71359	0.82159	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.43	5.43	0.79006	5.525000	0.66826	7.347000	0.58277	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	19.259	0.93946	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1857.33	43	chr1	200560880	.	C	T	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.195;DP=791;ExcessHet=0;FS=2.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.575;SOR=0.956	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1462	18	0	1	0
chr1	200649159	200649159	C	T	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.G1040A:p.S347N,DDX59:NM_001349803:exon5:c.G1130A:p.S377N,DDX59:NM_001031725:exon6:c.G1382A:p.S461N,DDX59:NM_001320181:exon6:c.G1382A:p.S461N,DDX59:NM_001349799:exon6:c.G1382A:p.S461N,DDX59:NM_001349800:exon6:c.G1382A:p.S461N,DDX59:NM_001349801:exon6:c.G1382A:p.S461N,DDX59:NM_001349802:exon6:c.G1382A:p.S461N	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.132082424001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419515113	6.917e-07	6.84e-07	1.377e-06	0	1.204e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.028	0.60337	D	0.97	0.56973	D	0.68	0.53472	P	0.000000	0.84330	D	0.037884	0.999998	0.58761	D	0.92	0.23413	L	-3.08	0.92560	D	-2.39	0.55821	N	0.591	0.61087	0.499	0.90530	D	0.766	0.92033	D	10	0.65099525	0.69602	D	0.132082	0.81438	D	0.267	0.58126	0.382	0.39970	0.986530203635	0.98638	0.5183405391189232	0.51757	0.572545265595	0.53344	0.550546705723	0.45934	T	0.188453	0.81946	T	0.128234	0.67189	D	-0.0535777	0.66777	D	0.931570708751678	0.59703	D	0.948205	0.79983	D	0.48407817	0.66147	0.39009592	0.63813	0.48407817	0.66148	0.39009592	0.63813	-12.297	0.90208	D	0.4536007456487072	0.53700	0.476	0.64988	A	.;.;.;.	.;.;.;.	4.053062	0.60094	24.2	0.99551138415059581	0.71148	0.98540	0.83876	D	AEFBI	0.885853	0.81673	D	0.642865897320539	0.75908	6.389825	0.704319273756955	0.82707	7.834133	0.999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	6.007000	0.70391	7.646000	0.63445	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	42	chr1	200649159	.	C	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.074;DP=876;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.021;SOR=0.53	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr1	200649205	200649205	G	C	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.C994G:p.P332A,DDX59:NM_001349803:exon5:c.C1084G:p.P362A,DDX59:NM_001031725:exon6:c.C1336G:p.P446A,DDX59:NM_001320181:exon6:c.C1336G:p.P446A,DDX59:NM_001349799:exon6:c.C1336G:p.P446A,DDX59:NM_001349800:exon6:c.C1336G:p.P446A,DDX59:NM_001349801:exon6:c.C1336G:p.P446A,DDX59:NM_001349802:exon6:c.C1336G:p.P446A	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0687687620722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.007	0.92824	D	0.998	0.73220	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-3.02	0.92258	D	-5.95	0.94249	D	0.713	0.74918	-0.5328	0.67435	T	0.368	0.72803	T	10	0.7884146	0.78447	D	0.068769	0.70544	D	0.558	0.81831	0.447	0.50629	0.970266424776	0.96994	0.4374284405407907	0.43659	0.682462068016	0.60108	0.681629002094	0.64502	T	0.325391	0.82668	T	0.398816	0.89846	D	0.335095	0.89719	D	0.988077640533447	0.78458	D	0.941806	0.78595	D	0.47921202	0.65852	0.55515283	0.74271	0.47921202	0.65853	0.55515283	0.74272	-12.868	0.88812	D	0.6867761441449579	0.76393	0.421	0.66497	A	.;.;.;.	.;.;.;.	4.597363	0.72782	25.9	0.99552237478956063	0.71211	0.99351	0.94882	D	AEFBI	0.864370	0.78315	D	0.585220718771123	0.72251	5.776499	0.687219132222809	0.81409	7.519602	0.999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	9.900000	0.98620	11.796000	0.96513	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	564.33	42	chr1	200649205	.	G	C	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.523;DP=821;ExcessHet=0;FS=1.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-4.164;SOR=1.017	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr1	200649207	200649207	G	A	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon3:c.C992T:p.P331L,DDX59:NM_001349803:exon5:c.C1082T:p.P361L,DDX59:NM_001031725:exon6:c.C1334T:p.P445L,DDX59:NM_001320181:exon6:c.C1334T:p.P445L,DDX59:NM_001349799:exon6:c.C1334T:p.P445L,DDX59:NM_001349800:exon6:c.C1334T:p.P445L,DDX59:NM_001349801:exon6:c.C1334T:p.P445L,DDX59:NM_001349802:exon6:c.C1334T:p.P445L	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2372983	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.582	0.334343131546	.	.	3.303e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs759952696	1.272e-05	1.231e-05	1.404e-05	1.138e-05	0.0004	7.95e-06	6.56e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0004	2.733e-06	6.831e-05	0	4.605e-05	4.599e-05	3.857e-05	5.39e-05	7.253e-05	2.112e-05	1.528e-05	1.923e-05	1.033e-05	7.253e-05	0	0	0	0	0	0	4.411e-05	0.0005	0	0.001	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-3.01	0.92208	D	-7.99	0.98199	D	0.683	0.71854	0.844	0.94958	D	0.864	0.95468	D	10	0.8393837	0.83092	D	0.334343	0.91840	D	0.582	0.83193	0.475	0.55182	0.991932970914	0.99184	0.5998776223251384	0.59918	0.702978856379	0.61244	0.689804553986	0.65678	T	0.321815	0.82651	T	0.396376	0.89705	D	0.35677	0.90579	D	0.994411051273346	0.85688	D	0.957304	0.84976	D	0.7464466	0.80662	0.80405086	0.88524	0.7464466	0.80664	0.80405086	0.88525	-9.538	0.71461	D	0.7417136168889824	0.82378	0.502	0.64686	A	.;.;.;.	.;.;.;.	5.178372	0.86818	29.0	0.99779528622656022	0.86606	0.99185	0.92484	D	AEFBI	0.897513	0.83976	D	0.917971762643541	0.92612	11.52439	0.926424375990415	0.96625	14.93032	0.999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	9.900000	0.98620	11.796000	0.96513	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.631	0.99528	630	0.65016	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	735.33	42	chr1	200649207	.	G	A	735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=809;ExcessHet=0;FS=0.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.534;SOR=0.56	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr1	200663990	200663990	T	G	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon2:c.A901C:p.M301L,DDX59:NM_001031725:exon3:c.A901C:p.M301L,DDX59:NM_001320181:exon3:c.A901C:p.M301L,DDX59:NM_001349799:exon3:c.A901C:p.M301L,DDX59:NM_001349800:exon3:c.A901C:p.M301L,DDX59:NM_001349801:exon3:c.A901C:p.M301L,DDX59:NM_001349802:exon3:c.A901C:p.M301L,DDX59:NM_001349803:exon3:c.A901C:p.M301L,DDX59:NM_001349804:exon3:c.A901C:p.M301L	Orofaciodigital syndrome V, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.014241396887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.32610	T	0.347	0.17640	T	0.022	0.18677	B	0.057	0.26280	B	0.000000	0.84330	N	0.035429	0.999999	0.58761	D	-1.12	0.00947	N	2.91	0.10008	T	-1.56	0.37759	N	0.279	0.31590	-0.9915	0.32218	T	0.011	0.04042	T	10	0.20532069	0.36754	T	0.014241	0.34223	T	0.227	0.52620	0.488	0.57257	0.441844919209	0.43804	0.622936475898087	0.62226	0.256238188023	0.28199	0.50328797102	0.39286	T	0.010638	0.09586	T	-0.134968	0.30696	T	-0.431649	0.29749	T	0.805423200130463	0.46727	D	0.772023	0.40277	T	0.33950758	0.56240	0.23029819	0.48128	0.33950758	0.56240	0.23029819	0.48127	-2.567	0.06257	T	0.2652294666856925	0.35761	0.275	0.50871	B	.;.	.;.	3.112866	0.41995	21.5	0.94211499975976598	0.24453	0.97786	0.77123	D	AEFBI	0.736030	0.68166	D	-0.487530441820676	0.22489	1.20117	-0.221986255498157	0.30748	1.734055	0.999999989838241	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.75	4.61	0.56724	6.012000	0.70424	6.361000	0.55508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.1344:0.8656	13.060	0.58412	672	0.60758	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	857.33	34	chr1	200663990	.	T	G	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=733;ExcessHet=0;FS=4.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.56;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr1	200848111	200848111	A	C	exonic	CAMSAP2	.	nonsynonymous SNV	CAMSAP2:NM_001297708:exon11:c.A1294C:p.I432L,CAMSAP2:NM_203459:exon11:c.A1342C:p.I448L,CAMSAP2:NM_001297707:exon12:c.A1375C:p.I459L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00259585	0.0009	0	8.705e-05	0	0	0	0	0.0074	0.0008021	124	154602	rs553031275	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	6.006e-05	0	0	0	0	0.0003	1.802e-06	0.0005	0.0046	0.0002	0.0002	8.994e-05	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0002	0	0	0	0	0.0077	0.628	0.05183	T	1.0	0.01155	T	0.005	0.12996	B	0.009	0.14300	B	0.000012	0.62929	N	0.182425	0.998914	0.45677	D	0.585	0.15399	N	2.69	0.13795	T	0.06	0.07008	N	0.193	0.21969	-1.0622	0.11215	T	0.020	0.08453	T	10	0.00424996	0.00085	T	.	.	.	0.068	0.19811	.	.	0.110392049598	0.10638	0.23816573070912866	0.23730	0.290997932504	0.31501	0.493497997522	0.37925	T	0.021795	0.16915	T	-0.553463	0.00278	T	-0.565453	0.15868	T	0.0704757148752364	0.08717	T	0.848715	0.54290	T	0.13505656	0.31357	0.08647184	0.20036	0.13505656	0.31357	0.08647184	0.20036	-3.902	0.24861	T	.	.	0.082	0.24430	B	.;.;.	.;.;.	2.332019	0.29874	18.26	0.94151249850574947	0.24349	0.98150	0.80031	D	AEFBI	0.703428	0.65947	D	-0.361185355670426	0.26863	1.469409	-0.137911710629174	0.33877	1.942543	0.990256128681588	0.32091	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	4.47	0.53770	5.728000	0.68178	4.663000	0.44246	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8632:0.1367:0.0:0.0	12.808	0.57007	614	0.66605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1109.33	33	chr1	200848111	.	A	C	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=715;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.809;SOR=0.834	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1123,0,974	18	0	1	0
chr1	200898444	200898444	T	A	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon2:c.T44A:p.I15N,INAVA:NM_001367289:exon2:c.T44A:p.I15N,INAVA:NM_018265:exon2:c.T299A:p.I100N	.	414	1093	15	0	0	15	0.00681508	.	.	.	706984	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.264	.	0.0082	0.00439297	0.0074	0.0021	0.0103	0.0001	0.0020	0.0104	0.0099	0.0025	0.0073996	1144	154602	rs41269923	0.0097	0.0097	0.0099	0.0094	0.0111	0.0095	0.0095	0.0110	0.0109	0.0012	0.0102	0.0083	0	0.0026	0.0082	0.0111	0.0089	0.0037	0.0069	0.0069	0.0072	0.0065	0.0109	0.0065	0.0064	0.0097	0.0094	0.0020	0	0.0109	0.0098	0	0.0016	0.0136	0.0103	0.0118	0.0029	0.001	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	0.000103	0.50451	D	0.128098	0.997855	0.44256	D	.	.	.	0.34	0.58176	T	-6.47	0.91479	D	0.892	0.89131	-0.5719	0.65939	T	0.220	0.58358	T	10	0.0070993304	0.00161	T	.	.	.	0.264	0.57741	.	.	0.332276917938	0.32835	0.888246127385429	0.88793	0.897739696098	0.70522	.	.	.	0.17196	0.54886	T	-0.302521	0.08424	T	-0.196296	0.54998	T	0.0277452959493207	0.01651	T	0.934707	0.75503	D	0.9097601	0.92273	0.8162238	0.89298	0.9149783	0.92765	0.8162238	0.89298	-11.801	0.84719	D	0.6527463832259754	0.72512	0.676	0.81789	P	.;.;.;.	.;.;.;.	5.026818	0.83583	28.1	0.99383675144697092	0.62024	0.88193	0.48012	D	AEFDGBCI	0.687013	0.64850	D	0.645288491143497	0.76063	6.418071	0.618326756169285	0.76269	6.460339	0.999999994677431	0.74766	0.722319	0.85440	0	0.615513	0.52658	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	5.693000	0.67926	4.904000	0.45887	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.148	0.53340	797	0.45241	Domain of unknown function DUF3338;Domain of unknown function DUF3338;Domain of unknown function DUF3338;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.015152	0.001359	0.000000	0.000000	0.000000	0.018293	0.000000	0.02632	342.33	42	chr1	200898444	.	T	A	342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.986;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	200990917	200990917	C	T	exonic	KIF21B	.	nonsynonymous SNV	KIF21B:NM_001252100:exon18:c.G2687A:p.R896Q,KIF21B:NM_001252102:exon18:c.G2687A:p.R896Q,KIF21B:NM_001252103:exon18:c.G2687A:p.R896Q,KIF21B:NM_017596:exon18:c.G2687A:p.R896Q	.	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.169168897763	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	1.94e-05	3	154602	rs772829037	1.026e-05	1.026e-05	1.225e-05	8.251e-06	2.519e-05	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	1.159e-05	6.57e-06	6.566e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.149	0.24758	T	0.118	0.37872	T	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.99937	0.46831	D	2.72	0.79541	M	-0.38	0.73205	T	-1.12	0.28906	N	0.428	0.53884	0.120	0.84527	D	0.557	0.83859	D	9	0.4665807	0.59607	T	0.169169	0.84707	D	0.329	0.65126	.	.	0.787154669423	0.78518	0.3572940473629392	0.35643	1.5128637397	0.87273	0.627157628536	0.56742	T	0.039899	0.25345	T	0.0205095	0.54451	T	-0.208316	0.53856	T	0.909599125385284	0.56455	D	0.950405	0.81505	D	0.23810463	0.46684	0.14906001	0.35210	0.23810463	0.46684	0.14906001	0.35209	-3.722	0.22738	T	.	.	0.140	0.37312	B	.;.;.;.	.;.;.;.	8.079902	0.97157	37	0.99940748689451886	0.99797	0.91729	0.54139	D	AEFDGBI	0.661499	0.63170	D	0.523574652881001	0.68488	5.224019	0.432005852592048	0.63571	4.593338	0.874750165396409	0.25492	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	4.066000	0.57236	7.382000	0.58460	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	15.051	0.71533	764	0.49969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	35	chr1	200990917	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=749;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.9;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1587	18	0	1	0
chr1	201066300	201066300	C	T	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon21:c.G2674A:p.V892M	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	930228	Inborn_genetic_diseases|Hypokalemic_periodic_paralysis,_type_1|Malignant_hyperthermia,_susceptibility_to,_5	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.919	0.149602679448	7.7e-05	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs146823170	4.11e-06	4.104e-06	5.453e-06	2.753e-06	2.519e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	2.519e-05	0	0	4.497e-06	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.79402	D	0.999	0.77913	D	0.971	0.72444	D	0.000008	0.62929	D	0.063680	0.999992	0.58761	D	2.675	0.78361	M	-4.96	0.98448	D	-2.74	0.58248	D	0.668	0.67650	1.098	0.99594	D	0.965	0.98890	D	10	0.8296261	0.82129	D	0.149603	0.83139	D	0.919	0.97928	.	.	0.943833370957	0.94324	0.7865709030766226	0.78609	0.505372073468	0.48780	0.828764021397	0.86373	D	0.680392	0.93116	D	0.339454	0.85799	D	0.265312	0.86342	D	0.966197848320007	0.67506	D	0.984901	0.94937	D	0.83699596	0.86394	0.81267464	0.89070	0.83699596	0.86395	0.81267464	0.89071	-11.963	0.84671	D	0.4489849538429753	0.53314	0.323	0.54703	B	.;.	.;.	5.121147	0.85661	28.7	0.9987845210205788	0.95491	0.98216	0.80621	D	AEFDBI	0.922228	0.89690	D	0.722262126209959	0.81093	7.441885	0.610212039832014	0.75680	6.35366	0.999996694037129	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.92	3.92	0.44525	7.827000	0.84873	7.567000	0.60617	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	16.269	0.82430	917	0.20147	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	36	chr1	201066300	.	C	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.586;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.86;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	18	0	1	0
chr1	201135776	201135776	C	T	exonic	TMEM9	.	nonsynonymous SNV	TMEM9:NM_001288565:exon5:c.G439A:p.G147R,TMEM9:NM_001288564:exon6:c.G439A:p.G147R,TMEM9:NM_001288566:exon6:c.G439A:p.G147R,TMEM9:NM_001288567:exon6:c.G439A:p.G147R,TMEM9:NM_001288568:exon6:c.G439A:p.G147R,TMEM9:NM_001288569:exon6:c.G439A:p.G147R,TMEM9:NM_001288570:exon6:c.G448A:p.G150R,TMEM9:NM_001288571:exon6:c.G514A:p.G172R,TMEM9:NM_016456:exon6:c.G439A:p.G147R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00906955618678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	6.156e-06	9.54e-06	2.753e-06	6.299e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.03005	T	0.396	0.15255	T	0.001	0.07471	B	0.003	0.08700	B	0.006558	0.31955	N	0.140101	0.999827	0.20203	N	0.05	0.08135	N	.	.	.	0.72	0.02099	N	0.435	0.61426	-1.0124	0.26165	T	0.055	0.23148	T	9	0.13126945	0.24983	T	0.00907	0.23869	T	0.087	0.25287	0.373	0.38503	0.472102515431	0.46837	0.43048907856438506	0.42965	0.491041322685	0.47806	0.504313290119	0.39428	T	0.016918	0.13896	T	-0.153603	0.27749	T	-0.458417	0.26771	T	0.815807700157166	0.47463	D	0.753825	0.37593	T	0.04458247	0.07153	0.044720333	0.05858	0.04458247	0.07152	0.044720333	0.05858	-2.877	0.08915	T	.	.	0.152	0.36234	B	.;.;.;.;.	.;.;.;.;.	3.425535	0.47581	22.5	0.99305663299149161	0.58795	0.19602	0.20724	N	AEFBI	0.249704	0.36989	N	-0.688561751151728	0.16347	0.8320101	-0.581142962930112	0.19985	1.07472	0.979070323950974	0.29989	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.72	3.8	0.42887	4.850000	0.62587	4.755000	0.44682	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.8199:0.0:0.1801	8.452	0.32035	928	0.17405	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1528.33	34	chr1	201135776	.	C	T	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=780;ExcessHet=0;FS=4.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.175;SOR=0.425	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr1	201208018	201208018	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G3125T:p.G1042V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0988081760911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.889e-06	2.736e-06	4.277e-06	1.463e-06	3.708e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.708e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.997635	0.81001	D	.	.	.	-0.54	0.70950	T	-3.8	0.71762	D	0.134	0.13055	-0.9962	0.30974	T	0.157	0.48858	T	6	0.1386368	0.26364	T	0.098808	0.77003	D	0.148	0.39182	0.483	0.56462	0.321393169273	0.31749	0.6262559975265019	0.62558	.	.	0.313875854015	0.12493	T	.	.	.	-0.123854	0.32496	T	-0.415684	0.31571	T	0.904001116752625	0.55735	D	0.460054	0.13307	T	.	.	.	.	.	.	.	.	-6.248	0.48309	T	.	.	0.211	0.43842	B	.	.	1.950707	0.24774	16.52	0.98197573127921622	0.39088	0.18292	0.20200	N	AEFBI	0.125765	0.24241	N	-0.792898526055585	0.13493	0.6651674	-0.875887901081291	0.12667	0.6528983	2.10869177097071E-4	0.05948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.23	2.31	0.27816	-0.205000	0.09413	0.707000	0.20898	-0.106000	0.15538	0.000000	0.06391	0.238000	0.23831	0.010000	0.09038	0.1192:0.0:0.8808:0.0	8.632	0.33085	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	936.33	81	chr1	201208018	.	G	T	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=1712;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.506;SOR=0.687	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr1	201210958	201210958	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G6065T:p.G2022V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.307065267147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-06	1.006e-06	3.001e-06	0	1.999e-06	0	0	.	.	0	0	0	0	0	0	1.999e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-3.65	0.95179	D	-0.61	0.18042	N	0.114	0.10198	-0.4787	0.69414	T	0.468	0.79508	T	6	0.13580167	0.25840	T	0.307065	0.91067	D	0.170	0.43303	0.255	0.19533	0.224531998449	0.22054	0.41653585331512727	0.41569	.	.	0.335925221443	0.15827	T	.	.	.	-0.0464112	0.44989	T	-0.304443	0.44254	T	0.0454057522712512	0.04675	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-10.27	0.75513	D	.	.	0.115	0.22933	B	.	.	0.432808	0.08032	4.751	0.47251072722204096	0.03849	0.01912	0.05850	N	AEFBI	0.041410	0.06292	N	-1.33560854704174	0.03276	0.1460847	-1.52920946688687	0.02122	0.09713515	0.017562455714221	0.12965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.53	-5.06	0.02725	-0.160000	0.10029	-8.721000	0.00924	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1986:0.2615:0.2354:0.3045	0.515	0.00562	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	1675.84	296	chr1	201210958	.	G	T	1675.84	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.234;DP=3443;ExcessHet=0;FS=2.07;InbreedingCoeff=0.3579;MLEAC=1;MLEAF=0.042;MQ=57.89;MQRankSum=0.194;QD=11.32;ReadPosRankSum=0.906;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:231,0:231:0:.:.:0,0,0:.	11	0	1	7
chr1	201211311	201211311	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G6418A:p.A2140T	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.390033536479	0.0039	0.00279553	0.0057	0.0006	0	0	0	0.0052	0	0.0078	0.0010543	163	154602	rs143641590	0.0042	0.0040	0.0041	0.0044	0.0086	0.0041	0.0041	0.0080	0.0078	0.0004	0.0008	0.0011	0	0.0037	0.0055	0.0044	0.0030	0.0086	0.0029	0.0030	0.0029	0.0030	0.0064	0.0027	0.0026	0.0047	0.0042	0.0006	0	0.0015	0.0009	0	0.0035	0.0069	0.0048	0.0009	0.0064	0.001	0.78490	D	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	-2.64	0.90147	D	-0.11	0.08653	N	0.049	0.02088	-0.7399	0.58457	T	0.292	0.66393	T	6	0.010076821	0.00226	T	0.390034	0.93167	D	0.158	0.41098	.	.	0.317958651998	0.31400	0.2304152134897308	0.22956	.	.	0.344711065292	0.17139	T	.	.	.	-0.511841	0.00490	T	-0.50231	0.22107	T	0.0201916370674393	0.00719	T	0.39496	0.09912	T	.	.	.	.	.	.	.	.	-8.245	0.62727	D	.	.	0.113	0.22208	B	.	.	0.081369	0.04875	1.462	0.98943487527101981	0.48997	0.04989	0.10761	N	AEFBI	0.057925	0.10829	N	-0.911465524993964	0.10573	0.5058905	-1.06009636363169	0.08497	0.4181005	1.55422063110687E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.24	0.028	0.13477	-2.225000	0.01295	-6.135000	0.01486	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1205:0.1959:0.4828:0.2009	2.137	0.03536	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001529	0.005882	0.008929	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	3347.33	102	chr1	201211311	.	G	A	3347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=3778;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=2.64;QD=11.31;ReadPosRankSum=0.681;SOR=0.759	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	18	0	1	0
chr1	201212374	201212374	A	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A7481C:p.Q2494P	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0206330498891	.	.	0.0005	0	0	0	0	0.0003	0	0.0009	7.76e-05	12	154602	rs772963834	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0014	0.0011	0	0.0004	7.943e-05	0	0	0.0023	0.0001	0.0004	0.0009	0.0002	0.0002	0.0001	0.0003	0.0017	0.0001	0.0001	0.0008	0.0006	0	0	0.0003	0	0	0	0.0034	0.0002	0.0019	0.0017	0.003	0.68238	D	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.59	0.53943	T	-1.48	0.36189	N	0.312	0.35194	-1.0506	0.14230	T	0.055	0.23300	T	6	0.021378726	0.00510	T	0.020633	0.43263	T	0.031	0.07369	0.297	0.26202	0.158396225186	0.15383	0.39618868168041765	0.39533	.	.	0.445332556963	0.31306	T	.	.	.	-0.54692	0.00304	T	-0.642661	0.09477	T	0.0673590305483617	0.08276	T	0.311569	0.06072	T	.	.	.	.	.	.	.	.	-2.219	0.04133	T	.	.	0.306	0.53487	B	.	.	1.669542	0.21287	15.13	0.96201991973400391	0.29025	0.06405	0.12408	N	AEFDGBI	0.188921	0.31619	N	-0.827365301180256	0.12613	0.6159461	-0.94945074941046	0.10936	0.5540286	3.65596904970674E-4	0.06707	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.88	0.234	0.14661	0.209000	0.17231	-0.386000	0.09508	0.679000	0.82387	0.003000	0.16062	0.000000	0.08366	0.717000	0.34675	0.4134:0.1856:0.2193:0.1817	0.435	0.00445	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1656.33	68	chr1	201212374	.	A	C	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=1314;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.57;SOR=0.737	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr1	201217373	201217373	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon17:c.G9682A:p.G3228S,IGFN1:NM_001367841:exon18:c.G2311A:p.G771S	.	423	1086	13	0	0	13	0.00594966	.	.	.	2815917	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.371	0.0450691315221	0.0030	0.00179712	0.0031	0.0004	0.0010	0	0.0023	0.0042	0.0044	0.0039	0.0030401	470	154602	rs143014998	0.0040	0.0040	0.0041	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0004	0.0015	0.0023	0	0.0027	0.0016	0.0045	0.0037	0.0039	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0034	0.0006	0	0.0016	0.0023	0	0.0044	0	0.0040	0.0009	0.0033	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.998478	0.46032	D	3.585	0.93597	H	0.41	0.57100	T	-5.73	0.87611	D	0.441	0.47949	-0.1498	0.78921	T	0.362	0.72338	T	10	0.010296851	0.00230	T	0.045069	0.61798	D	0.371	0.69016	.	.	0.51058355623	0.50700	0.3258561252445839	0.32498	.	.	0.482014596462	0.36334	T	0.043816	0.26620	T	-0.321231	0.06797	T	-0.233112	0.51470	T	0.0411853397761261	0.03905	T	0.831417	0.49863	T	0.19212675	0.40869	0.31738853	0.57713	0.19212675	0.40869	0.31738853	0.57713	-11.968	0.84695	D	.	.	0.201	0.42506	B	.;.	.;.	3.208461	0.43659	21.8	0.99857758233966909	0.93639	0.96599	0.69949	D	AEFDBI	0.753477	0.69365	D	0.111690557198599	0.47007	2.932596	-0.0115667840431473	0.39191	2.320025	0.958242151208714	0.28351	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.68	3.77	0.42499	6.016000	0.70451	3.139000	0.36475	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0871:0.0:0.9129:0.0	11.021	0.46932	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1959.33	35	chr1	201217373	.	G	A	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.661;DP=777;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.793;SOR=0.774	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1283	18	0	1	0
chr1	201383099	201383099	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon7:c.G1361A:p.R454Q	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0115056266267	.	.	3.323e-05	0	0	0.0001	0	0	0.0011	0.0001	2.59e-05	4	154602	rs760393592	1.916e-05	1.984e-05	1.362e-05	2.476e-05	0.0007	1.329e-05	1.144e-05	0.0002	0.0001	2.987e-05	0	0	0	3.75e-05	0.0007	4.497e-06	8.28e-05	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.13	0.29158	T	0.219	0.25987	T	0.196	0.29532	B	0.07	0.27859	B	0.441414	0.12622	N	0.676026	1	0.08975	N	1.295	0.32453	L	0.83	0.47815	T	-2.17	0.49018	N	0.116	0.13484	-1.0353	0.18762	T	0.079	0.31375	T	10	0.047366202	0.04044	T	0.011506	0.29207	T	0.014	0.01968	0.149	0.05238	0.0551355673512	0.04727	0.03879378903210367	0.03825	0.223941503005	0.24908	0.247812867165	0.03540	T	0.124201	0.44908	T	-0.456875	0.01028	T	-0.657377	0.08444	T	0.0247021019307187	0.01234	T	0.724428	0.33821	T	0.044118613	0.06997	0.037631836	0.03456	0.044118613	0.06997	0.037631836	0.03456	-2.46	0.05514	T	.	.	0.081	0.11845	B	.;.;.	.;.;.	1.050696	0.14316	10.90	0.87780336490808142	0.17477	0.01336	0.04600	N	AEFGBI	0.075064	0.15063	N	-1.05457363175443	0.07498	0.348513	-1.09964927023421	0.07708	0.3759877	0.999901157940544	0.45458	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.1	0.00926	0.13400	-0.218000	0.09246	-0.582000	0.08371	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.5463:0.0:0.4537	7.585	0.27156	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2117.33	157	chr1	201383099	.	C	T	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=798;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.2;SOR=0.841	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1457	18	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A	.	416	1091	15	0	0	15	0.00682749	.	.	.	4020796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.006793	0.020468	0.000000	0.000000	0.018293	0.000000	0.07895	4085.77	60	chr1	201386508	.	T	C	4085.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=1048;ExcessHet=0;FS=3.089;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=1.37;SOR=0.449	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	17	1	1	0
chr1	201386904	201386904	G	A	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.C457T:p.P153S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00413824900008	.	0.00179712	0.0006	0	0	0	0	0	0.0022	0.0041	0.0005175	80	154602	rs570406740	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0024	0.0022	5.982e-05	4.478e-05	0	0	0	0.0003	1.619e-05	0.0002	0.0026	0.0001	0.0001	0.0001	0.0001	0.0025	9.74e-05	8.255e-05	0.0014	0.0011	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0025	0.112	0.30375	T	0.718	0.32568	T	0.154	0.42139	B	0.135	0.42079	B	0.318974	0.14303	N	0.672289	1	0.08975	N	2.425	0.70256	M	2.57	0.14160	T	-2.68	0.60029	D	0.028	0.00825	-1.0444	0.16000	T	0.031	0.13242	T	10	0.005230874	0.00114	T	0.004138	0.09931	T	0.059	0.16972	0.223	0.14665	0.0482279557977	0.04254	0.06154373075997134	0.06094	0.246772151182	0.27215	0.292933136225	0.09351	T	0.113396	0.43040	T	-0.633171	0.00091	T	-0.684072	0.06739	T	0.0382536219800152	0.03377	T	0.686031	0.38363	T	0.050453555	0.09118	0.08184062	0.18631	0.050453555	0.09117	0.08184062	0.18631	-2.555	0.06168	T	.	.	0.133	0.41249	B	.;.;.;.;.	.;.;.;.;.	2.130570	0.27123	17.36	0.99038767497953906	0.50984	0.03651	0.08906	N	AEFDBI	0.086439	0.17526	N	-0.396816411062699	0.25581	1.38977	-0.42607693484416	0.24235	1.326008	0.999968205983252	0.48965	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.17	2.11	0.26299	1.215000	0.32035	7.154000	0.57685	0.614000	0.49286	0.052000	0.21487	1.000000	0.68203	0.954000	0.50415	0.1175:0.1627:0.7198:0.0	6.61	0.21942	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1113.33	37	chr1	201386904	.	G	A	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.859;DP=751;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.206;SOR=0.45	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr1	201718545	201718545	C	T	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_020443:exon3:c.C1016T:p.S339L	.	432	1089	1	0	0	1	0.000458926	.	.	.	2756306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0178887112316	.	.	1.677e-05	0	0	0	0	3.061e-05	0	0	1.94e-05	3	154602	rs780189061	1.506e-05	1.505e-05	1.907e-05	1.101e-05	2.32e-05	9.86e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.657e-05	2.32e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	6.543e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.543e-05	0	0	0	0.0032	0	0	0	0.091	0.31834	T	0.222	0.31225	T	.	.	.	.	.	.	0.173737	0.17299	N	0.587434	0.834466	0.34968	D	-0.295	0.03650	N	0.94	0.43672	T	-1.58	0.44852	N	0.626	0.64052	-0.9778	0.35503	T	0.093	0.35309	T	10	0.2925087	0.46828	T	0.017889	0.39762	T	0.128	0.35103	0.164	0.06842	0.216943180021	0.21308	0.41386755013544774	0.41302	0.862274680542	0.69014	0.755126953125	0.75204	T	0.056791	0.30387	T	-0.148327	0.28573	T	-0.435352	0.29328	T	0.538237690925598	0.34039	D	0.909809	0.68064	D	0.10255602	0.24233	0.122055374	0.29445	0.10255602	0.24233	0.122055374	0.29445	-5.36	0.40533	T	.	.	0.116	0.23290	B	.;.	.;.	4.302420	0.65697	24.9	0.99179553367865336	0.54643	0.95197	0.63797	D	AEFDGBCI	0.471297	0.51690	N	-0.118556314399807	0.36584	2.116689	0.0356629403038343	0.41383	2.485371	0.999999999979332	0.74766	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.05	5.05	0.67566	5.300000	0.65515	5.651000	0.49183	0.599000	0.40250	0.998000	0.41325	0.890000	0.27818	0.382000	0.26379	0.0:1.0:0.0:0.0	18.197	0.89758	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1410.33	39	chr1	201718545	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.96;DP=797;ExcessHet=0;FS=8.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.298;SOR=1.43	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1354	18	0	1	0
chr1	201983063	201983063	G	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.G397T:p.A133S	.	.	.	.	.	.	.	.	.	.	.	2194515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0131697579586	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281876553	8.011e-06	1.915e-05	7.207e-06	8.833e-06	0.0002	4.3e-06	3.14e-06	2.71e-06	1.74e-06	0	0	0	0	2.32e-05	0.0002	6.518e-06	1.761e-05	1.302e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29688	T	0.466	0.17750	T	0.001	0.07471	B	0.007	0.12992	B	0.018086	0.27565	N	0.331261	0.999381	0.21275	N	-0.55	0.02420	N	3.75	0.03922	T	-0.01	0.07155	N	0.039	0.01999	-0.9445	0.41895	T	0.007	0.02282	T	10	0.0611988	0.07635	T	0.01317	0.32362	T	0.016	0.02506	0.389	0.41115	0.222439326576	0.21863	0.306574377233197	0.30570	0.140086197031	0.15791	0.529822349548	0.43009	T	0.049765	0.28402	T	-0.321733	0.06756	T	-0.699924	0.05831	T	0.0620427113714354	0.07487	T	0.521348	0.16985	T	0.061722446	0.12815	0.069999345	0.14820	0.061722446	0.12814	0.069999345	0.14820	-3.894	0.22212	T	.	.	0.073	0.05935	B	.;.	.;.	1.463098	0.18861	13.96	0.97088810167198869	0.32315	0.37082	0.25680	N	ALL	0.167832	0.29454	N	-0.850022417469157	0.12048	0.5850068	-0.799767306504595	0.14501	0.7579927	0.999999999996167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.81	0.454	0.15857	0.397000	0.20608	1.408000	0.26256	-0.171000	0.11205	0.000000	0.06391	0.254000	0.23938	0.955000	0.50612	0.1876:0.0:0.4605:0.3519	4.050	0.09270	740	0.53092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	220.33	38	chr1	201983063	.	G	T	220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=546;ExcessHet=0;FS=1.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=1.29;SOR=1.022	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,941	18	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T,RNPEP:NM_001319184:exon10:c.G1018A:p.A340T,RNPEP:NM_001319182:exon11:c.G1495A:p.A499T,RNPEP:NM_020216:exon11:c.G1888A:p.A630T	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.003788	0.02632	915.33	33	chr1	202005651	.	G	A	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.573;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr1	202012720	202012720	G	A	exonic	ELF3	.	nonsynonymous SNV	ELF3:NM_001114309:exon5:c.G559A:p.G187R,ELF3:NM_004433:exon5:c.G559A:p.G187R	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0173454211129	0.0003	.	0.0004	0	0.0003	0	0	0.0003	0	0.0016	0.0003234	50	154602	rs151290080	0.0003	0.0003	0.0002	0.0004	0.0105	0.0003	0.0003	0.0084	0.0076	0	0.0001	0	2.526e-05	1.948e-05	0.0105	0.0002	0.0004	0.0015	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0	0	0	0	0.0068	0.0003	0	0.0015	0.23	0.38863	T	0.562	0.34716	T	0.06	0.23119	B	0.029	0.21540	B	0.013109	0.01355	U	7.741050	1	0.08975	N	1.67	0.42885	L	2.36	0.53731	T	-1.43	0.35194	N	0.301	0.34012	-1.0219	0.23096	T	0.144	0.46714	T	10	0.019317776	0.00430	T	0.017345	0.39013	T	0.105	0.29889	0.265	0.21103	0.64617586229	0.64324	0.3514196407946845	0.35055	0.368701807779	0.38416	0.521216154099	0.41797	T	0.207525	0.56719	T	-0.367904	0.03701	T	-0.325873	0.41928	T	0.0167001427708858	0.00428	T	0.677732	0.28664	T	0.06325544	0.13300	0.08212194	0.18719	0.06325544	0.13300	0.08212194	0.18719	-3.74	0.19910	T	.	.	0.149	0.32969	B	.;.;.;.	.;.;.;.	2.674151	0.34869	19.75	0.87657972777412774	0.17386	0.44406	0.27311	N	AEFDGBCI	0.229100	0.35268	N	-0.684345782597569	0.16468	0.8392727	-0.677264178078325	0.17530	0.9325245	0.999999959042215	0.74766	0.650006	0.45971	0	0.624306	0.53593	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	4.91	3.04	0.34171	3.547000	0.53416	4.102000	0.41870	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.213000	0.22268	0.1791:0.0:0.8209:0.0	8.505	0.32344	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.008152	0.005848	0.000000	0.025862	0.006098	0.000000	0.02632	1054.33	33	chr1	202012720	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.49;DP=748;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.695;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1270:.	18	0	1	0
chr1	202158167	202158167	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon2:c.C257T:p.A86V,PTPN7:NM_080588:exon2:c.C374T:p.A125V,PTPN7:NM_001199797:exon3:c.C479T:p.A160V,PTPN7:NM_001364877:exon3:c.C257T:p.A86V,PTPN7:NM_002832:exon3:c.C257T:p.A86V	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0182145862653	0.0006	0.000399361	0.0012	0.0003	0.0006	0.0003	0.0002	0.0006	0	0.0056	0.0010414	161	154602	rs149201621	0.0010	0.0010	0.0008	0.0012	0.0058	0.0009	0.0009	0.0054	0.0053	0.0001	0.0004	0	0.0001	5.623e-05	0.0033	0.0007	0.0010	0.0058	0.0006	0.0006	0.0005	0.0006	0.0044	0.0005	0.0004	0.0029	0.0024	0.0002	0.0033	0.0001	0	0	0.0003	0.0034	0.0007	0	0.0044	0.058	0.49117	T	0.119	0.40909	T	0.235	0.30743	B	0.071	0.27960	B	0.038538	0.24275	N	0.355400	1	0.81001	D	.	.	.	3.72	0.45248	T	-0.8	0.29114	N	0.192	0.23758	-1.0791	0.07524	T	0.071	0.28904	T	10	0.008551717	0.00194	T	0.018215	0.40210	T	0.075	0.21907	.	.	0.36355261348	0.35965	0.6123177138496367	0.61163	0.21174846284	0.23675	0.309781044722	0.11874	T	0.022947	0.23141	T	-0.487427	0.00671	T	-0.471289	0.25378	T	0.0127703123313459	0.00217	T	0.644736	0.28920	T	.	.	.	.	.	.	.	.	-5.11	0.38012	T	.	.	0.093	0.26419	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.325579	0.29784	18.23	0.98109745900258793	0.38343	0.62487	0.31796	D	AEFBHCI	0.142562	0.26503	N	-0.285985121300731	0.29688	1.648657	-0.168054291349961	0.32720	1.864308	0.999986809649594	0.51787	0.627647	0.40530	0	0.672317	0.65289	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.348000	0.33592	0.957000	0.22964	-0.123000	0.13640	0.998000	0.41325	1.000000	0.68203	0.654000	0.32802	0.086:0.0:0.6142:0.2998	6.725	0.22539	839	0.37672	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.015267	0.05263	1865.83	37	chr1	202158167	.	G	A	1865.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.731;DP=737;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.706;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	17	0	2	0
chr1	202305720	202305720	C	A	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017404:exon10:c.C690A:p.S230R,LGR6:NM_001017403:exon12:c.C1107A:p.S369R,LGR6:NM_021636:exon12:c.C951A:p.S317R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.18162594606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865792924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.01	0.70582	D	1.0	0.90584	D	0.995	0.92359	D	0.000000	0.84330	D	0.041429	0.512924	0.31834	D	2.325	0.66631	M	0.96	0.57880	T	-3.28	0.69357	D	0.789	0.78546	-0.3853	0.72488	T	0.298	0.66924	T	10	0.51508355	0.62319	D	0.181626	0.85568	D	0.300	0.62068	0.368	0.37687	0.864246407406	0.86293	0.699870577063907	0.69928	0.935186057414	0.71990	0.525863289833	0.42452	T	0.503481	0.82296	D	0.0851315	0.62636	D	-0.115491	0.62172	T	0.986406028270721	0.77130	D	0.783222	0.57812	T	0.56175596	0.70607	0.38757062	0.63622	0.56175596	0.70608	0.38757062	0.63622	-9.46	0.70610	D	.	.	0.413	0.61061	A	.;.;.;.	.;.;.;.	3.306261	0.45409	22.1	0.99773747906716304	0.86174	0.80790	0.40339	D	AEFDBI	0.223407	0.34777	N	0.42245541882904	0.62657	4.485462	0.34530211554285	0.58226	3.991828	0.239486973018758	0.18555	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.69	2.86	0.32427	0.306000	0.19030	0.562000	0.19521	0.599000	0.40250	0.996000	0.39380	0.998000	0.33993	0.956000	0.50813	0.0:0.6633:0.0:0.3367	7.383	0.26041	519	0.74455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1726.33	33	chr1	202305720	.	C	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-2.536;SOR=0.751	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1740,0,1803	18	0	1	0
chr1	202730940	202730940	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon24:c.G4010A:p.R1337Q,KDM5B:NM_006618:exon25:c.G4145A:p.R1382Q,KDM5B:NM_001314042:exon26:c.G4253A:p.R1418Q	.	428	1091	3	0	0	3	0.001373	.	.	.	576079	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0167540152082	0.0038	0.00139776	0.0037	0.0018	0.0010	0.0001	0.0006	0.0057	0.0011	0.0020	0.0039456	610	154602	rs34216958	0.0061	0.0061	0.0064	0.0059	0.0075	0.0060	0.0060	0.0074	0.0073	0.0011	0.0018	0.0014	0	0.0012	0.0014	0.0075	0.0039	0.0017	0.0040	0.0040	0.0045	0.0035	0.0071	0.0037	0.0036	0.0066	0.0064	0.0009	0	0.0038	0.0009	0	0.0011	0	0.0071	0.0038	0.0010	0.324	0.14352	T	0.409	0.14588	T	0.017	0.17573	B	0.002	0.06944	B	0.053790	0.22778	N	0.505538	0.999992	0.08975	N	1.085	0.27262	L	-1.91	0.85799	D	-0.61	0.19509	N	0.061	0.03283	-0.8549	0.51627	T	0.269	0.64003	T	10	0.0034817755	0.00062	T	0.016754	0.38152	T	0.071	0.20720	.	.	0.30921473904	0.30521	0.11947249611815194	0.11874	0.250522654818	0.27623	0.203748896718	0.00573	T	0.014878	0.12581	T	-0.421113	0.01682	T	-0.368281	0.37088	T	0.00863609035805215	0.00106	T	0.825917	0.48908	T	0.039414942	0.05437	0.03619225	0.03018	0.051013786	0.09304	0.043035153	0.05262	-3.88	0.22002	T	.	.	0.067	0.03625	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.278119	0.29126	18.02	0.98615314728492864	0.43704	0.59927	0.31051	D	AEFBI	0.057433	0.10696	N	-0.671129279040302	0.16848	0.8619567	-0.576486092526582	0.20106	1.081807	0.0616005664158077	0.15236	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.04	1.08	0.19456	0.908000	0.28167	0.581000	0.19707	0.599000	0.40250	0.848000	0.30412	0.639000	0.25905	0.988000	0.63387	0.0:0.5485:0.0:0.4515	10.220	0.42369	411	0.82069	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2048.33	33	chr1	202730940	.	C	T	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.233;DP=795;ExcessHet=0;FS=4.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.349;SOR=1.037	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	18	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q,KDM5B:NM_006618:exon15:c.G2198A:p.R733Q,KDM5B:NM_001314042:exon16:c.G2306A:p.R769Q	.	429	1062	29	2	0	33	0.015299	0.9976	0.922	YES	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.006793	0.008772	0.000000	0.008621	0.015244	0.015152	0.02632	791.33	72	chr1	202746142	.	C	T	791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=1208;ExcessHet=0;FS=2.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.879;SOR=0.39	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr1	203007485	203007485	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C20T:p.P7L,TMEM183A:NM_001322956:exon1:c.C20T:p.P7L,TMEM183A:NM_001322957:exon1:c.C20T:p.P7L,TMEM183A:NM_001322958:exon1:c.C20T:p.P7L,TMEM183A:NM_001322959:exon1:c.C20T:p.P7L,TMEM183A:NM_138391:exon1:c.C20T:p.P7L	.	396	1104	20	2	0	24	0.0107527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00119808	0.0041	0	0	0	0	0.0164	0	0.0005	0.0008409	130	154602	rs555362119	0.0024	0.0024	0.0025	0.0024	0.0094	0.0024	0.0023	0.0070	0.0061	0.0005	0.0026	0.0087	0	0.0005	0.0094	0.0025	0.0032	0.0010	0.0020	0.0020	0.0022	0.0018	0.0032	0.0019	0.0018	0.0029	0.0027	0.0004	0	0.0025	0.0069	0	0.0004	0.0034	0.0032	0.0024	0.0006	0.181	0.21884	T	1.0	0.01155	T	0.104	0.25941	B	0.016	0.17743	B	0.033671	0.24868	N	0.345767	0.937347	0.37187	D	1.7	0.43825	L	1.99	0.21666	T	0.45	0.03191	N	0.135	0.13198	-1.0641	0.10760	T	0.035	0.15204	T	10	0.0024991632	0.00038	T	.	.	.	0.020	0.03691	.	.	0.043077524339	0.03247	0.29244569523384223	0.29157	0.580504772415	0.53893	0.685403227806	0.65045	T	0.002292	0.01691	T	-0.518279	0.00450	T	-0.517768	0.20522	T	0.0203897621880027	0.00739	T	0.625537	0.24174	T	0.057242885	0.11366	0.08569887	0.19806	0.057242885	0.11365	0.08569887	0.19805	-3.668	0.18847	T	.	.	0.106	0.19679	B	.	.	2.553262	0.33055	19.23	0.98683186201359852	0.44652	0.72577	0.35519	D	AEFGBHCIJ	0.253901	0.37331	N	-0.264791343754043	0.30517	1.702362	-0.145346773158669	0.33587	1.922862	0.999999999999963	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.82	3.88	0.43959	1.768000	0.38141	1.921000	0.29710	0.525000	0.24333	0.461000	0.26652	0.944000	0.28851	0.940000	0.48062	0.1789:0.8211:0.0:0.0	12.053	0.52813	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003289	0.011765	0.004360	0.003378	0.000000	0.000000	0.000000	0.003937	0.02632	448.33	20	chr1	203007485	.	C	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.929;DP=642;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-1.001;QD=10.19;ReadPosRankSum=-0.576;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,901	18	0	1	0
chr1	203044717	203044717	G	C	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon6:c.G598C:p.A200P,PPFIA4:NM_001304332:exon6:c.G598C:p.A200P	.	418	1100	3	1	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	0.00559105	0.0098	0	0	0	0	0	0.0065	0.0209	0.0018887	292	154602	rs542912164	0.0012	0.0012	0.0006	0.0018	0.0202	0.0012	0.0011	0.0194	0.0191	3.1e-05	0	3.963e-05	2.705e-05	0	0.0004	7.378e-06	0.0011	0.0202	0.0007	0.0007	0.0005	0.0010	0.0220	0.0006	0.0006	0.0186	0.0173	4.81e-05	0	0	0	0.0002	0	0.0034	0	0.0005	0.0220	0.272	0.15930	T	0.253	0.23776	T	.	.	.	.	.	.	0.111222	0.19409	U	0.358632	0.880091	0.81001	D	0.69	0.16971	N	0.84	0.47477	T	-0.81	0.27052	N	0.482	0.51672	-1.0526	0.13682	T	0.094	0.35684	T	9	0.0058195293	0.00130	T	.	.	.	0.055	0.15663	0.221	0.14371	0.606927088724	0.60377	0.36520268360004476	0.36434	.	.	0.452153027058	0.32237	T	0.006382	0.06968	T	-0.480141	0.00738	T	-0.44687	0.28043	T	0.0127619835099053	0.00216	T	0.665033	0.29515	T	0.2162293	0.44076	0.23259911	0.48425	0.2162293	0.44076	0.23259911	0.48424	-3.342	0.14285	T	.	.	0.069	0.05979	B	.;.	.;.	2.169456	0.27642	17.53	0.98297295011862407	0.40011	0.16646	0.19484	N	AEFDBI	0.248188	0.36864	N	-0.458588588723288	0.23450	1.259364	-0.367095271768177	0.25985	1.432444	0.999994029025506	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.51	3.49	0.39065	0.518000	0.22554	1.951000	0.29885	-0.242000	0.07441	0.961000	0.33663	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.6766:0.3234	11.568	0.50067	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2165.33	33	chr1	203044717	.	G	C	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.177;DP=790;ExcessHet=0;FS=2.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.829;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr1	203045444	203045444	G	T	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon7:c.G743T:p.R248L,PPFIA4:NM_001304332:exon7:c.G743T:p.R248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.165484769797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	3.42e-06	1.365e-06	2.76e-06	1.17e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.003e-07	1.66e-05	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.039	0.51112	D	.	.	.	.	.	.	0.042771	0.23808	U	0.204971	0.897216	0.81001	D	2.67	0.78151	M	-1.26	0.79176	T	-6.28	0.90729	D	0.697	0.70175	-0.2142	0.77304	T	0.372	0.73106	T	9	0.68091077	0.71273	D	0.165485	0.84434	D	0.537	0.80605	0.23	0.15705	0.854878177261	0.85347	0.490231241282763	0.48943	.	.	0.482768476009	0.36438	T	0.161275	0.64636	T	0.0954863	0.63802	D	-0.100617	0.63350	T	0.944409072399139	0.62054	D	0.846215	0.76191	T	0.30721033	0.53543	0.35537335	0.61066	0.30721033	0.53543	0.35537335	0.61065	-13.147	0.89959	D	.	.	0.228	0.48551	B	.;.	.;.	4.058510	0.60212	24.2	0.99744465462675946	0.83778	0.94763	0.62246	D	AEFDBI	0.604332	0.59547	D	0.248260919556224	0.53553	3.523657	0.303693394304637	0.55755	3.738462	0.999999638274471	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	4.021000	0.56907	5.905000	0.50941	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0833:0.0:0.9167:0.0	12.662	0.56183	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	37	chr1	203045444	.	G	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.171;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.38;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	18	0	1	0
chr1	203179557	203179557	G	A	exonic	CHI3L1	.	nonsynonymous SNV	CHI3L1:NM_001276:exon10:c.C1040T:p.A347V	.	.	.	.	.	.	.	.	.	.	.	3300899	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0191133719927	.	0.000199681	8.438e-05	0	0	0.0006	0	3.067e-05	0	0.0002	7.12e-05	11	154602	rs527531482	3.502e-05	4.241e-05	3.41e-05	3.595e-05	0.0006	2.707e-05	2.447e-05	0.0004	0.0003	2.997e-05	4.488e-05	0	0.0006	0	0	3.611e-06	6.659e-05	0.0002	9.848e-05	9.842e-05	7.709e-05	0.0001	0.0005	6.002e-05	4.876e-05	0.0003	0.0002	2.405e-05	0	0.0005	0	0.0004	0	0	1.47e-05	0.0009	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000271	0.46590	D	0.000000	0.979151	0.39533	D	2.975	0.85398	M	3.34	0.06063	T	-3.11	0.63669	D	0.147	0.14905	-1.0973	0.04433	T	0.069	0.28346	T	10	0.33126026	0.50351	T	0.019113	0.41382	T	0.258	0.56959	0.864	0.95995	0.392547445146	0.38869	0.5168295949886434	0.51605	0.398618698346	0.40916	0.373900473118	0.21389	T	0.341965	0.71080	T	-0.349936	0.04732	T	-0.341555	0.40169	T	0.562225699424744	0.34939	D	0.974702	0.91007	D	0.8849571	0.90079	0.78760976	0.87497	0.8849571	0.90080	0.78760976	0.87498	-7.716	0.59119	D	.	.	0.416	0.60464	A	.	.	4.372822	0.67337	25.1	0.99888030097410863	0.96281	0.76541	0.37547	D	AEFBCI	0.511944	0.54036	D	0.639563358947231	0.75696	6.351653	0.520007244110961	0.69337	5.346062	0.999993822684443	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.7	3.78	0.42629	4.387000	0.59391	3.235000	0.36931	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.098:0.1786:0.7234:0.0	6.769	0.22771	884	0.28482	Glycoside hydrolase family 18, catalytic domain|Chitinase II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2587.83	61	chr1	203179557	.	G	A	2587.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.56;DP=924;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.23;SOR=0.573	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	17	0	2	0
chr1	203223530	203223530	C	A	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon4:c.G388T:p.A130S,CHIT1:NM_003465:exon5:c.G445T:p.A149S	.	417	1104	1	0	0	1	0.000452694	.	.	.	707005	Chitotriosidase_deficiency	MedGen:C3279902,OMIM:614122	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	.	0.00599042	0.0032	0	8.637e-05	0.0195	0	5.994e-05	0	0.0129	0.0027619	427	154602	rs117678693	0.0015	0.0015	0.0012	0.0018	0.0289	0.0015	0.0014	0.0275	0.0270	2.987e-05	4.472e-05	3.826e-05	0.0289	1.872e-05	0.0005	8.543e-05	0.0012	0.0105	0.0007	0.0007	0.0005	0.0010	0.0137	0.0006	0.0006	0.0112	0.0102	0	0	0	0	0.0137	0	0	4.41e-05	0	0.0079	0.086	0.32769	T	0.122	0.35710	T	0.073	0.24078	B	0.078	0.28627	B	0.151181	0.17963	N	0.464969	1	0.08975	N	0.89	0.21648	L	3.45	0.05311	T	-0.76	0.21215	N	0.197	0.27554	-0.9702	0.37157	T	0.007	0.02244	T	10	0.0033217967	0.00057	T	.	.	.	0.044	0.11924	.	.	0.297375071883	0.29337	0.24226630409919905	0.24140	0.192109018572	0.21539	0.293833076954	0.09484	T	0.194974	0.55091	T	-0.672293	0.00053	T	-0.701235	0.05759	T	0.0136108294322831	0.00252	T	0.935306	0.75759	D	0.21067715	0.43371	0.08696882	0.20184	0.21067715	0.43371	0.08696882	0.20183	-4.674	0.33754	T	0.15179982564169756	0.17937	0.091	0.12891	B	.;.	.;.	1.065065	0.14470	11.04	0.97039522609466833	0.32105	0.12319	0.17196	N	AEFBI	0.089800	0.18201	N	-0.76255414422804	0.14295	0.7108843	-0.776464619950182	0.15072	0.7908852	0.991499514676242	0.32508	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.83	0.397	0.15537	0.556000	0.23144	-0.392000	0.09469	0.599000	0.40250	0.248000	0.24829	0.000000	0.08366	0.512000	0.29290	0.1323:0.3435:0.4354:0.0888	4.693	0.12170	878	0.29785	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	866.33	40	chr1	203223530	.	C	A	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.073;DP=731;ExcessHet=0;FS=5.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.168;SOR=1.449	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	18	0	1	0
chr1	203503694	203503694	C	T	exonic	OPTC	.	nonsynonymous SNV	OPTC:NM_014359:exon7:c.C973T:p.R325W	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	.	0.0051	0.00319489	0.0065	0.0017	0.0021	0.0046	0.0148	0.0083	0.0080	0.0029	0.0061772	955	154602	rs56219555	0.0066	0.0066	0.0067	0.0065	0.0072	0.0065	0.0065	0.0071	0.0070	0.0008	0.0020	0.0015	0.0034	0.0147	0.0010	0.0072	0.0049	0.0033	0.0049	0.0049	0.0048	0.0051	0.0075	0.0046	0.0045	0.0069	0.0067	0.0010	0	0.0010	0.0006	0.0050	0.0135	0	0.0075	0.0038	0.0019	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999971	0.53665	D	2.345	0.67358	M	0.29	0.58897	T	-6.25	0.90568	D	0.648	0.65930	-0.3637	0.73153	T	0.289	0.66123	T	10	0.012722611	0.00272	T	.	.	.	0.354	0.67510	.	.	0.827114277101	0.82548	0.6630259677918089	0.66239	0.486860026487	0.47529	0.353271991014	0.18402	T	0.331323	0.70141	T	-0.103863	0.35785	T	0.0849958	0.75911	D	0.0360213098906597	0.02985	T	0.991934	0.97468	D	0.7049123	0.78326	0.5455676	0.73732	0.7049123	0.78328	0.5455676	0.73732	-11.789	0.83807	D	.	.	0.345	0.56278	A	.	.	4.229351	0.64035	24.7	0.999158959674734	0.98379	0.96471	0.69303	D	AEFGBI	0.553805	0.56491	D	0.462054239714377	0.64889	4.754066	0.364844521834238	0.59406	4.11823	0.9999937499124	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.25	3.32	0.37134	2.063000	0.41049	0.261000	0.16544	0.580000	0.29708	0.924000	0.32081	0.012000	0.20211	0.973000	0.55318	0.1739:0.8261:0.0:0.0	12.067	0.52892	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1211.33	33	chr1	203503694	.	C	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.377;DP=736;ExcessHet=0;FS=3.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.643;SOR=0.386	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr1	203720696	203720696	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon16:c.G2554A:p.V852M,ATP2B4:NM_001365783:exon16:c.G2554A:p.V852M,ATP2B4:NM_001365784:exon16:c.G2554A:p.V852M,ATP2B4:NM_001684:exon16:c.G2554A:p.V852M	.	221	1300	1	0	0	1	0.000384468	.	.	.	3301350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.822	0.584928810071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.011	0.64786	D	0.999	0.77913	D	0.977	0.73820	D	0.000262	0.46590	D	0.000000	1	0.81001	D	2.6	0.76081	M	-4.73	0.98066	D	-2.63	0.56466	D	0.627	0.64137	1.104	0.99803	D	0.951	0.98392	D	10	0.8205174	0.81260	D	0.584929	0.96293	D	0.822	0.94315	0.719	0.85408	0.725609170557	0.72318	0.6764298251632219	0.67581	1.25624763527	0.81905	0.878540456295	0.93763	D	.	.	.	0.347722	0.86353	D	0.261702	0.86174	D	0.985305368900299	0.76338	D	0.987751	0.95824	D	.	.	.	.	.	.	.	.	-9.509	0.70964	D	.	.	0.265	0.49979	B	.;.;.	.;.;.	5.377530	0.90137	31	0.9990403854995038	0.97502	0.98075	0.79386	D	AEFGBI	0.694318	0.65336	D	0.666786969647426	0.77460	6.678711	0.586848178640817	0.73996	6.062646	0.999995635966392	0.74766	0.645754	0.44609	0	0.633656	0.55848	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.52	4.52	0.54797	5.894000	0.69546	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	17.201	0.86786	684	0.59539	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1766.33	34	chr1	203720696	.	G	A	1766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.793;DP=772;ExcessHet=0;FS=6.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.17;SOR=0.332	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	18	0	1	0
chr1	204113073	204113073	G	A	exonic	SOX13	.	nonsynonymous SNV	SOX13:NM_005686:exon2:c.G158A:p.R53Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0648361156284	8.3e-05	.	0.0004	0.0002	0	0.0003	0	0	0	0.0022	0.0001617	25	154602	rs371454083	0.0001	0.0001	7.681e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	2.35e-05	0	0.0001	1.933e-05	0	1.266e-05	8.34e-05	0.0018	5.912e-05	5.909e-05	7.707e-05	4.034e-05	0.0012	3.077e-05	2.21e-05	0.0005	0.0004	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0.0012	0.385	0.11586	T	0.382	0.34837	T	0.001	0.07471	B	0.001	0.04355	B	0.107047	0.19587	N	0.547474	0.999947	0.19238	N	0.895	0.22405	L	-4.6	0.97849	D	-0.07	0.25332	N	0.04	0.01421	0.139	0.84868	D	0.807	0.93479	D	10	0.010506481	0.00233	T	0.064836	0.69397	D	0.213	0.50496	.	.	0.276254252017	0.27237	0.10975865628635467	0.10904	0.030132702839	0.03106	0.264214992523	0.05403	T	0.11939	0.44087	T	-0.299232	0.08733	T	-0.232682	0.51511	T	0.0208725498531917	0.00788	T	0.708429	0.31914	T	0.040239085	0.05706	0.0312084	0.01678	0.040239085	0.05706	0.0312084	0.01677	-3.972	0.23383	T	.	.	0.070	0.04599	B	.;.;.;.	.;.;.;.	1.550253	0.19867	14.48	0.97019908506642427	0.32022	0.56559	0.30148	D	AEFDGBCI	0.130315	0.24882	N	-0.632896554588542	0.17962	0.9287601	-0.534519454414149	0.21218	1.146793	0.999962204161626	0.48965	0.722319	0.85440	0	0.615948	0.52940	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.68	2.31	0.27816	1.525000	0.35560	0.652000	0.20426	-0.182000	0.10109	0.773000	0.29391	0.122000	0.22912	0.498000	0.28972	0.1789:0.0:0.6204:0.2007	5.284	0.15002	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1190.33	40	chr1	204113073	.	G	A	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=793;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-2.402;SOR=0.606	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1141	18	0	1	0
chr1	204245627	204245627	C	T	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon14:c.G2020A:p.A674T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0300529754648	7.7e-05	.	0.0001	9.621e-05	0	0.0001	0	9.027e-05	0	0.0006	0.0001164	18	154602	rs368833612	7.975e-05	8.62e-05	5.339e-05	0.0001	0.0006	6.767e-05	6.298e-05	0.0004	0.0004	2.997e-05	4.476e-05	0	2.521e-05	3.772e-05	0.0003	5.154e-05	4.989e-05	0.0006	6.577e-05	6.568e-05	6.428e-05	6.732e-05	0.0002	3.52e-05	2.618e-05	3.253e-05	1.917e-05	9.667e-05	0	6.548e-05	0	0	0	0	5.883e-05	0	0.0002	0.365	0.13003	T	0.092	0.39954	T	0.727	0.42493	P	0.096	0.30313	B	0.591331	0.11047	N	0.828472	1	0.81001	D	1.31	0.32734	L	1.33	0.35031	T	-0.62	0.21644	N	0.681	0.68777	-0.9706	0.37073	T	0.084	0.32786	T	10	0.11539081	0.21739	T	0.030053	0.52447	D	0.125	0.34456	.	.	0.225033846419	0.22103	0.42390571159989043	0.42307	0.406651737621	0.41543	0.768185973167	0.77153	T	0.027232	0.19988	T	-0.216418	0.18483	T	-0.176382	0.56858	T	0.108113887129382	0.13227	T	0.983668	0.94463	D	0.10180089	0.24048	0.08098812	0.18368	0.10180089	0.24048	0.08098812	0.18368	-8.536	0.64667	D	.	.	0.250	0.49008	B	.;.;.	.;.;.	4.386867	0.67666	25.1	0.99836772121544926	0.91800	0.98899	0.88348	D	AEFDGBI	0.724426	0.67373	D	0.176344624508035	0.50065	3.200165	0.271528151011108	0.53884	3.555282	0.999999999999623	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.616094	0.41390	0	0.668105	0.65232	0	.	.	5.13	5.13	0.69729	5.222000	0.65109	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.536000	0.29845	0.0:1.0:0.0:0.0	18.181	0.89710	644	0.63734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	41	chr1	204245627	.	C	T	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.503;DP=741;ExcessHet=0;FS=6.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.21;SOR=0.308	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	18	0	1	0
chr1	204259723	204259723	G	A	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon8:c.C542T:p.S181L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00317558736742	.	.	8.541e-05	0	0	0	0	9.24e-05	0	0.0003	7.76e-05	12	154602	rs745612031	5.21e-05	5.199e-05	4.09e-05	6.343e-05	0.0005	4.168e-05	3.896e-05	0.0004	0.0004	0	6.725e-05	0	0	0	0.0003	1.802e-05	6.638e-05	0.0005	3.943e-05	3.94e-05	5.14e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.166	0.23997	T	0.034	0.52727	D	0.998	0.73220	D	0.945	0.68163	D	0.025818	0.26025	N	0.382752	0.999963	0.52935	D	1.6	0.40776	L	2.77	0.11407	T	-2.61	0.56144	D	0.622	0.66787	-1.2042	0.00121	T	0.069	0.28213	T	10	0.16718632	0.31199	T	0.003176	0.06936	T	0.123	0.34020	.	.	0.15499578495	0.15088	0.5650489410170895	0.56431	0.104387959458	0.11810	0.503550827503	0.39322	T	0.054998	0.29881	T	-0.218609	0.18183	T	-0.245817	0.50229	T	0.176166236400604	0.18989	T	0.925907	0.72722	D	0.17156631	0.37798	0.14851269	0.35104	0.17156631	0.37798	0.14851269	0.35103	-3.579	0.17553	T	.	.	0.121	0.25000	B	.;.;.	.;.;.	4.765394	0.77093	26.6	0.99854766760386215	0.93368	0.88688	0.48735	D	AEFDGBI	0.528622	0.55007	D	0.669239444561551	0.77617	6.709627	0.661865867719041	0.79498	7.094936	0.999999994919876	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.68	5.68	0.88021	4.748000	0.61842	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1428:0.8572:0.0	14.942	0.70649	808	0.43318	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	602.33	38	chr1	204259723	.	G	A	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1;SOR=0.576	GT:AD:DP:GQ:PL	0/0:31,0:31:72:0,72,1080	18	0	1	0
chr1	204411104	204411104	T	C	exonic	PPP1R15B	.	nonsynonymous SNV	PPP1R15B:NM_032833:exon1:c.A308G:p.Y103C	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive	433	1079	10	0	0	10	0.00461255	.	.	.	794546	not_provided|PPP1R15B-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0331980629777	7.7e-05	.	0.0003	9.623e-05	0.0005	0	0.0002	0.0004	0	0.0002	0.0002911	45	154602	rs137955986	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	5.974e-05	0.0007	0.0024	2.519e-05	1.872e-05	0.0016	0.0002	0.0006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	2.412e-05	0	0.0009	0.0029	0	0	0	0.0002	0	0.0008	0.016	0.51853	D	0.009	0.66756	D	.	.	.	.	.	.	0.500819	0.05091	N	1.355950	1	0.08975	N	.	.	.	1.67	0.27331	T	-1.66	0.39692	N	0.248	0.28028	-1.0161	0.24980	T	0.086	0.33550	T	10	0.020056814	0.00456	T	0.033198	0.54812	D	0.121	0.33580	.	.	0.349647731962	0.34572	0.1330163085128156	0.13225	0.125560609771	0.14154	0.466323971748	0.34177	T	.	.	.	-0.387845	0.02777	T	-0.460739	0.26518	T	0.0161851847571509	0.00393	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10111	B	.	.	1.013240	0.13924	10.48	0.98216214413674363	0.39254	0.01608	0.05209	N	ALL	0.063313	0.12228	N	-0.562178692659855	0.20103	1.057337	-0.732287227893112	0.16158	0.8534703	0.999999972046289	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	5.12	1.04	0.19220	-0.171000	0.09872	-0.263000	0.10410	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3286:0.0:0.1703:0.501	4.906	0.13151	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1923.33	152	chr1	204411104	.	T	C	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=798;ExcessHet=0;FS=5.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.01;SOR=0.97	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1209	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,33:153:99:0|1:204444146_C_T:272,0,3770:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,33:153:99:0|1:204444146_C_T:272,0,3770:204444146	9	0	10	0
chr1	204457055	204457055	C	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon10:c.G1729T:p.A577S,PIK3C2B:NM_001377335:exon12:c.G1729T:p.A577S,PIK3C2B:NM_002646:exon12:c.G1729T:p.A577S	.	428	1076	17	1	0	19	0.00875173	.	.	.	2815974	not_provided|PIK3C2B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.092	.	0.0058	0.00339457	0.0104	0.0006	0.0114	0	0.0184	0.0192	0	0.0024	0.005401	835	154602	rs61762602	0.0073	0.0074	0.0075	0.0071	0.0082	0.0072	0.0072	0.0080	0.0080	0.0009	0.0044	0.0071	0	0.0088	0.0079	0.0082	0.0075	0.0022	0.0058	0.0058	0.0059	0.0058	0.0082	0.0055	0.0054	0.0077	0.0074	0.0013	0.0022	0.0078	0.0107	0	0.0079	0.0102	0.0082	0.0066	0.0033	0.759	0.03492	T	1.0	0.02555	T	0.0	0.16609	B	0.001	0.19653	B	0.553917	0.05385	N	1.242290	0.991997	0.23951	N	1.59	0.40313	L	0.9	0.45248	T	0.41	0.03407	N	0.326	0.36674	-1.0443	0.16030	T	0.044	0.18742	T	10	0.0054474175	0.00120	T	.	.	.	0.092	0.26621	.	.	0.331200485591	0.32731	0.2228740159941752	0.22202	0.313180073728	0.33613	0.499567329884	0.38767	T	0.031403	0.22025	T	-0.577101	0.00201	T	-0.592347	0.13463	T	0.00633779952525549	0.00070	T	0.532447	0.21082	T	0.03837733	0.05102	0.03928205	0.03985	0.03837733	0.05102	0.03928205	0.03984	-3.375	0.14722	T	.	.	0.088	0.12276	B	.;.	.;.	2.899083	0.38415	20.7	0.72102997173930505	0.09857	0.96027	0.67203	D	AEFDBIJ	0.368507	0.45558	N	-0.443746811418011	0.23953	1.289933	-0.229332177330784	0.30489	1.717187	0.999943843182665	0.47345	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.635551	0.53088	0	.	.	5.33	3.44	0.38486	2.581000	0.45742	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.8218:0.0:0.1782	8.704	0.33504	629	0.65079	.;.	.	.	.	.	rs61762602	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008595	0.010204	0.006812	0.008772	0.000000	0.008772	0.024390	0.003817	0.02632	1719.33	54	chr1	204457055	.	C	A	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=906;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.715;SOR=0.75	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,114,1557	18	0	1	0
chr1	204468985	204468985	G	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon2:c.C818A:p.P273H,PIK3C2B:NM_001377335:exon4:c.C818A:p.P273H,PIK3C2B:NM_002646:exon4:c.C818A:p.P273H	.	422	1076	24	0	0	24	0.0110294	.	.	.	707014	not_provided|PIK3C2B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	.	0.0061	0.00339457	0.0060	0.0012	0.0022	0.0002	0.0101	0.0076	0.0099	0.0062	0.0059508	920	154602	rs61740701	0.0073	0.0073	0.0071	0.0075	0.0079	0.0072	0.0072	0.0077	0.0077	0.0012	0.0029	0.0086	5.038e-05	0.0095	0.0061	0.0079	0.0067	0.0069	0.0057	0.0057	0.0058	0.0056	0.0080	0.0054	0.0053	0.0075	0.0072	0.0016	0.0022	0.0065	0.0081	0.0012	0.0078	0.0068	0.0080	0.0043	0.0056	0.001	0.78490	D	0.016	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000038	0.55875	D	0.000000	0.99684	0.43455	D	1.955	0.52871	M	-0.03	0.63077	T	-2.39	0.52612	N	0.778	0.77507	-0.4104	0.71698	T	0.286	0.65753	T	10	0.009295911	0.00210	T	.	.	.	0.323	0.64522	.	.	0.519059196697	0.51549	0.4877293472835381	0.48692	1.08075512065	0.77127	0.644070386887	0.59142	T	0.171018	0.51898	T	-0.166881	0.25707	T	-0.00524001	0.69996	D	0.0170075414915406	0.00449	T	0.854615	0.55989	D	0.22388941	0.45019	0.35641825	0.61153	0.22388941	0.45019	0.35641825	0.61152	-5.516	0.42017	T	.	.	0.642	0.70584	P	.;.	.;.	4.729751	0.76160	26.5	0.99607224880428702	0.74575	0.96302	0.68477	D	AEFDGBHCI	0.809462	0.73297	D	0.663345084485605	0.77235	6.635858	0.655544852013524	0.79022	6.99584	0.999999999987651	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	8.900000	0.92179	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.0:1.0:0.0	16.830	0.85807	609	0.67094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.018939	0.02632	1818.33	37	chr1	204468985	.	G	T	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.114;DP=745;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-1.228;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr1	204618860	204618860	C	T	exonic	LRRN2	.	nonsynonymous SNV	LRRN2:NM_201630:exon2:c.G1133A:p.R378H,LRRN2:NM_006338:exon3:c.G1133A:p.R378H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00792511533439	.	.	4.126e-05	9.649e-05	0.0002	0	0	3.004e-05	0	0	3.23e-05	5	154602	rs746694908	4.173e-05	4.173e-05	3.539e-05	4.813e-05	0.0002	3.31e-05	3.001e-05	8.861e-05	6.427e-05	5.974e-05	0.0002	0	0	1.874e-05	0	4.227e-05	1.656e-05	2.319e-05	4.599e-05	4.597e-05	3.854e-05	5.38e-05	9.65e-05	2.109e-05	1.527e-05	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	4.41e-05	0	0	0.279	0.15561	T	0.091	0.40110	T	0.986	0.61523	D	0.557	0.49454	P	0.000506	0.43753	D	0.000000	0.999976	0.53665	D	1.31	0.32734	L	1.8	0.25344	T	-2.05	0.47008	N	0.164	0.19861	-1.1554	0.00873	T	0.069	0.28180	T	10	0.281725	0.45750	T	0.007925	0.21007	T	0.146	0.38789	0.606	0.73825	0.449572021084	0.44577	0.5659225341303383	0.56520	0.695304082111	0.60807	0.720228552818	0.70080	T	0.067673	0.33262	T	-0.296961	0.08950	T	-0.379627	0.35766	T	0.142566427588463	0.16493	T	0.913209	0.69058	D	0.1124052	0.26555	0.07395611	0.16127	0.1124052	0.26554	0.07395611	0.16127	-5.236	0.39305	T	.	.	0.151	0.33664	B	.;.;.	.;.;.	5.174544	0.86744	29.0	0.99523354807942532	0.69407	0.89418	0.49870	D	AEFDBI	0.396314	0.47283	N	0.430268344245058	0.63094	4.536664	0.492840094339157	0.67515	5.094	0.999999995693268	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	3.280000	0.51382	7.695000	0.65987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9242:0.0:0.0758	12.743	0.56635	768	0.49510	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	170	chr1	204618860	.	C	T	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.411;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.04;SOR=0.682	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	18	0	1	0
chr1	204981885	204981885	G	A	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon19:c.G2368A:p.V790I,NFASC:NM_001160332:exon20:c.G2323A:p.V775I,NFASC:NM_001365986:exon20:c.G2323A:p.V775I,NFASC:NM_015090:exon20:c.G2323A:p.V775I,NFASC:NM_001005388:exon21:c.G2335A:p.V779I,NFASC:NM_001378329:exon21:c.G2335A:p.V779I	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00612815847291	0.0002	0.000798722	0.0005	0.0008	0	0	0	0.0002	0.0011	0.0022	0.0003752	58	154602	rs138192492	0.0002	0.0002	9.841e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0.0006	6.864e-05	0	2.554e-05	0	0.0010	3.336e-05	0.0002	0.0018	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0.0008	0	0.0001	0	0	9.411e-05	0	0.0001	0.0005	0.0025	0.202	0.20230	T	0.326	0.18789	T	0.885	0.48692	P	0.076	0.28435	B	0.523058	0.11720	N	0.718663	0.999997	0.08975	N	0.78	0.19475	N	0.54	0.54911	T	-0.72	0.21860	N	0.162	0.21319	-1.0857	0.06281	T	0.071	0.28871	T	10	0.00950259	0.00214	T	0.006128	0.16052	T	0.059	0.16972	.	.	0.534106118305	0.53061	0.2867249458681292	0.28585	0.345015265624	0.36424	0.417907416821	0.27550	T	0.100248	0.40587	T	-0.538448	0.00342	T	-0.553004	0.17038	T	0.0104422871713251	0.00144	T	0.870713	0.57574	D	.	.	.	.	.	.	.	.	-7.269	0.59802	T	.	.	0.167	0.37633	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.224847	0.63937	24.6	0.99394004801425784	0.62474	0.75794	0.37129	D	AEFBI	0.190046	0.31729	N	-0.148109470182116	0.35316	2.026903	0.0214917531940202	0.40715	2.434264	0.991819414638955	0.32618	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	3.599000	0.53795	9.697000	0.81291	0.676000	0.76740	0.880000	0.30988	1.000000	0.68203	0.924000	0.46004	0.1539:0.0:0.8461:0.0	9.782	0.39821	804	0.43891	.;.;.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2898.33	34	chr1	204981885	.	G	A	2898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=862;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.342;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1362	18	0	1	0
chr1	205064636	205064636	C	A	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon12:c.C1405A:p.P469T,CNTN2:NM_005076:exon12:c.C1405A:p.P469T	.	429	1082	11	0	0	11	0.00505747	.	.	.	447696	CNTN2-related_disorder|Epilepsy,_familial_adult_myoclonic,_5	.|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0209714001438	0.0015	0.00139776	0.0017	0	0.0022	0	0	0.0023	0.0033	0.0015	0.0016623	257	154602	rs147693556	0.0021	0.0021	0.0020	0.0022	0.0068	0.0021	0.0020	0.0051	0.0045	0.0002	0.0015	0.0013	0	7.488e-05	0.0068	0.0024	0.0026	0.0019	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0020	0.0019	0.0002	0.0263	0.0024	0.0014	0	0	0.0068	0.0023	0.0028	0.0017	0.245	0.17410	T	0.483	0.11795	T	0.066	0.23586	B	0.102	0.30857	B	0.517359	0.11780	N	0.739987	0.764271	0.29506	N	1.065	0.27018	L	-0.18	0.65747	T	-1.58	0.38151	N	0.072	0.04547	-0.8319	0.53178	T	0.158	0.49161	T	10	0.0072214603	0.00164	T	0.020971	0.43663	T	0.041	0.10877	.	.	0.805989234046	0.80417	0.4562943859375925	0.45547	0.522610008405	0.49982	0.364295601845	0.20009	T	0.181402	0.53306	T	-0.442972	0.01242	T	-0.413379	0.31838	T	0.00727820218271539	0.00083	T	0.842016	0.51794	T	0.071878	0.15946	0.073502965	0.15979	0.071878	0.15945	0.073502965	0.15979	-6.144	0.47468	T	.	.	0.140	0.30739	B	.;.;.	.;.;.	2.564007	0.33215	19.27	0.92072947739311206	0.21420	0.83970	0.43059	D	AEFDBI	0.484428	0.52445	N	-0.266440301799545	0.30453	1.69816	-0.174129710219315	0.32491	1.849031	0.602848110557931	0.21740	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	3.54	0.39650	1.201000	0.31866	3.305000	0.37415	0.599000	0.40250	0.110000	0.22992	0.121000	0.22902	0.987000	0.62547	0.0:0.5243:0.3971:0.0786	9.444	0.37847	369	0.84396	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.05263	2524.83	40	chr1	205064636	.	C	A	2524.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.674;DP=879;ExcessHet=0.119;FS=5.524;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.31;SOR=0.898	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	17	0	2	0
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q,DSTYK:NM_199462:exon1:c.G86A:p.R29Q	.	278	1240	3	1	0	5	0.00201207	.	.	.	75261	Congenital_anomalies_of_kidney_and_urinary_tract_1|not_specified|not_provided	Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1392.33	40	chr1	205211450	.	C	T	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=743;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.991;SOR=0.933	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr1	205321589	205321589	G	A	exonic	NUAK2	.	nonsynonymous SNV	NUAK2:NM_030952:exon1:c.C40T:p.P14S	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.033924939528	0.0012	0.000599042	0.0012	0.0004	0.0012	0	0.0003	0.0019	0.0024	0.0001	0.0010737	166	154602	rs141798870	0.0013	0.0013	0.0013	0.0013	0.0014	0.0013	0.0012	0.0013	0.0013	0.0002	0.0011	0.0087	0	0.0003	0.0005	0.0014	0.0014	0.0002	0.0011	0.0011	0.0012	0.0010	0.0016	0.0010	0.0009	0.0014	0.0013	0.0002	0	0.0010	0.0089	0	0.0007	0	0.0016	0.0009	0.0002	.	.	.	0.307	0.19908	T	.	.	.	.	.	.	0.279581	0.14971	N	0.489185	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.144	0.14480	-1.0330	0.19490	T	0.133	0.44484	T	10	0.00708586	0.00161	T	0.033925	0.55325	D	0.079	0.23065	.	.	0.396645960531	0.39282	0.48684910276064347	0.48604	1.03614068546	0.75603	0.50908613205	0.40094	T	.	.	.	-0.546356	0.00307	T	-0.582206	0.14350	T	0.000523398397490382	0.00004	T	0.450155	0.12692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501420	0.08704	5.478	0.90673802851986074	0.19925	0.06322	0.12319	N	AEFDGBHCI	0.035200	0.04490	N	-1.24927805647652	0.04310	0.1942356	-1.25982879039081	0.04987	0.2365901	0.999999999748159	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.77	-1.05	0.09523	0.094000	0.14946	-0.054000	0.12508	-0.227000	0.07798	0.001000	0.13787	0.092000	0.22550	0.110000	0.18741	0.5133:0.1914:0.2953:0.0	4.629	0.11877	797	0.45241	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1373.33	34	chr1	205321589	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.189;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-1.427;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr1	205419237	205419237	G	T	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.C198A:p.D66E,LEMD1:NM_001199050:exon3:c.C198A:p.D66E	.	429	1092	1	0	0	1	0.000457666	.	.	.	2397472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0122183968959	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0	9.06e-05	14	154602	rs760767068	5.815e-05	5.814e-05	5.582e-05	6.051e-05	0.0005	4.81e-05	4.431e-05	0.0001	7.544e-05	0	0.0002	0.0004	0	0	0.0005	5.306e-05	6.624e-05	2.319e-05	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0001	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.412e-05	0	0.0001	0.0003	0	0	0	7.349e-05	0	0	0.162	0.23541	T	0.058	0.46182	T	0.041	0.21357	B	0.026	0.24832	B	0.985067	0.08068	N	0.993248	1	0.08975	N	0.895	0.22405	L	0.72	0.58176	T	-1.98	0.45769	N	0.083	0.05929	-0.9821	0.34515	T	0.101	0.37366	T	10	0.03466314	0.01683	T	0.012218	0.30597	T	0.076	0.22200	0.19	0.10039	0.221019684889	0.21715	0.05961590987441836	0.05901	0.0270007444614	0.02760	0.284455627203	0.08122	T	0.015428	0.12940	T	-0.49142	0.00638	T	-0.688622	0.06469	T	0.0128154983108049	0.00218	T	0.49795	0.20917	T	0.05340486	0.10101	0.07478595	0.16396	0.05340486	0.10101	0.07478595	0.16396	-3.728	0.20223	T	.	.	0.191	0.41171	B	.;.;.;.	.;.;.;.	1.277229	0.16768	12.75	0.92922408411072566	0.22484	0.05078	0.10873	N	AEFBI	0.062964	0.12137	N	-0.790468423961063	0.13558	0.6687431	-0.798012036858835	0.14543	0.7604607	0.0269867885769923	0.13746	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.25	2.16	0.26663	0.070000	0.14440	1.368000	0.25934	0.676000	0.76740	0.000000	0.06391	0.016000	0.20520	0.147000	0.20199	0.091:0.1706:0.5619:0.1766	3.484	0.07178	863	0.32847	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	638.33	35	chr1	205419237	.	G	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.724;DP=697;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.807;SOR=0.551	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1269	18	0	1	0
chr1	205523692	205523692	G	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_212503:exon3:c.G340A:p.A114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0235907565388	.	.	0.0001	0	0	0	0	0	0	0.0006	1.29e-05	2	154602	rs752679057	8.906e-06	9.577e-06	5.805e-06	1.215e-05	0.0002	4.75e-06	3.75e-06	8.418e-05	6.526e-05	0	0	0	0	0	0	0	1.799e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.933	0.27080	T	0.565	0.13030	T	0.013	0.16609	B	0.01	0.14941	B	0.000066	0.00414	U	21.457700	1	0.08975	N	.	.	.	-0.43	0.69657	T	0.46	0.10656	N	0.137	0.13484	-1.0189	0.24074	T	0.116	0.40986	T	10	0.029416561	0.01069	T	0.023591	0.46557	T	0.116	0.32463	0.358	0.36060	0.467416895013	0.46368	0.12371982742249779	0.12297	0.198364346356	0.22213	0.29017573595	0.08948	T	0.010943	0.16317	T	-0.138657	0.30104	T	-0.436947	0.29149	T	0.0490721344398588	0.05336	T	0.509849	0.16238	T	.	.	.	.	.	.	.	.	-3.961	0.23218	T	.	.	0.083	0.10400	B	.;.;.;.	.;.;.;.	0.555026	0.09238	6.018	0.11745387013270757	0.00185	0.05308	0.11156	N	AEFDGBCI	0.072816	0.14545	N	-1.18555660501319	0.05218	0.2373537	-1.2028077254452	0.05865	0.2806534	0.999986195936992	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.584781	0.30282	0	0.530356	0.10902	0	.	.	3.49	0.355	0.15305	-0.060000	0.11669	1.314000	0.25557	0.676000	0.76740	0.000000	0.06391	0.006000	0.19429	0.029000	0.12982	0.1279:0.2132:0.4403:0.2186	1.589	0.02490	809	0.43032	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2696.33	37	chr1	205523692	.	G	A	2696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.19;DP=889;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.442;SOR=0.776	GT:AD:DP:GQ:PL	0/1:94,99:193:99:2710,0,2495	18	0	1	0
chr1	205531347	205531347	G	A	exonic	CDK18	.	nonsynonymous SNV	CDK18:NM_002596:exon16:c.G1394A:p.R465Q,CDK18:NM_212502:exon16:c.G1394A:p.R465Q,CDK18:NM_212503:exon16:c.G1484A:p.R495Q	.	9	1512	1	0	0	1	0.000330579	.	.	.	2371095	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0546977282733	0.0012	.	0.0006	0.0005	0.0016	0.0001	0	0.0006	0	0	0.0005304	82	154602	rs146562756	0.0010	0.0010	0.0011	0.0009	0.0012	0.0010	0.0010	0.0012	0.0011	0.0008	0.0011	0	7.557e-05	0	0	0.0012	0.0008	9.275e-05	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0007	0	6.533e-05	0	0.0002	9.418e-05	0	0.0008	0.0014	0	0.059	0.37536	T	0.072	0.43344	T	0.286	0.32207	B	0.091	0.29943	B	0.009530	0.30318	N	0.241831	0.99986	0.50061	D	.	.	.	-0.44	0.70133	T	-1.0	0.26639	N	0.373	0.41459	-0.5329	0.67432	T	0.285	0.65734	T	10	0.03339845	0.01515	T	0.054698	0.65953	D	0.094	0.27141	.	.	0.830448417902	0.82884	0.6001836697950509	0.59949	0.32683426685	0.34824	0.448515862226	0.31740	T	.	.	.	-0.405331	0.02135	T	-0.361482	0.37880	T	0.0103919967974922	0.00143	T	0.909109	0.67839	D	0.08996369	0.21035	0.089294486	0.20874	0.08996369	0.21035	0.089294486	0.20873	-1.791	0.02482	T	.	.	0.092	0.27192	B	.;.;.	.;.;.	3.965498	0.58188	23.9	0.99797144523603021	0.88194	0.87222	0.46697	D	AEFGBI	0.591992	0.58787	D	-0.0126407209430334	0.41283	2.466576	0.0603666403503871	0.42574	2.577573	0.998448086308806	0.36977	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	4.08	4.08	0.46880	2.864000	0.48103	7.569000	0.60664	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	12.992	0.58025	808	0.43318	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1671.33	33	chr1	205531347	.	G	A	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.514;DP=791;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=2.83;SOR=0.761	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1280	18	0	1	0
chr1	205580805	205580805	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon3:c.G574A:p.G192S	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0211661	0.0118	0.0012	0.0636	0.0247	0	0.0009	0.0077	0.0247	0.0116169	1796	154602	rs146109722	0.0046	0.0046	0.0043	0.0049	0.0643	0.0045	0.0044	0.0623	0.0615	0.0007	0.0643	0.0090	0.0223	0	0.0026	0.0002	0.0072	0.0229	0.0082	0.0083	0.0067	0.0098	0.0538	0.0079	0.0077	0.0508	0.0496	0.0016	0	0.0538	0.0127	0.0254	0	0.0068	0.0005	0.0095	0.0282	0.758	0.03502	T	0.802	0.04431	T	0.002	0.15914	B	0.011	0.15521	B	0.533931	0.11608	N	0.823047	0.999998	0.58761	D	.	.	.	1.94	0.22678	T	0.5	0.02945	N	0.033	0.04188	-0.9678	0.37652	T	0.004	0.01295	T	10	0.001856327	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.43747557879175863	0.43664	0.440170072051	0.44032	0.267308205366	0.05792	T	0.02633	0.43997	T	-0.629407	0.00096	T	-0.629762	0.10433	T	0.00242273152368404	0.00025	T	0.706729	0.31713	T	0.034399476	0.03852	0.051730637	0.08382	0.034399476	0.03852	0.051730637	0.08382	-2.892	0.09064	T	.	.	0.070	0.11027	B	.;.;.;.	.;.;.;.	1.639639	0.20925	14.97	0.89235622399323533	0.18624	0.82127	0.41403	D	AEFDGBI	0.164995	0.29144	N	-0.600478964880561	0.18930	0.9867911	-0.420479511028924	0.24397	1.335719	0.99992813454296	0.46280	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.67	1.75	0.23707	1.005000	0.29436	3.682000	0.39470	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.881000	0.42162	0.3059:0.0:0.6941:0.0	7.306	0.25624	672	0.60758	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.012195	0.015152	0.02632	2493.33	45	chr1	205580805	.	G	A	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=834;ExcessHet=0;FS=2.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.574;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1404	18	0	1	0
chr1	205847907	205847907	C	G	exonic	PM20D1	.	nonsynonymous SNV	PM20D1:NM_152491:exon2:c.G234C:p.E78D	.	444	1074	3	1	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0111173038188	0.0008	0.000399361	0.0012	0.0001	8.754e-05	0	0.0006	0.0020	0.0011	0	6.47e-05	10	154602	rs148054590	0.0008	0.0008	0.0008	0.0007	0.0025	0.0007	0.0007	0.0015	0.0012	0.0001	0.0002	0.0008	2.522e-05	0.0009	0.0025	0.0009	0.0007	0.0001	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0007	0.0006	4.813e-05	0	6.539e-05	0.0020	0	0.0006	0.0068	0.0008	0.0014	0.0004	0.161	0.23631	T	0.054	0.47097	T	0.007	0.14184	B	0.016	0.17743	B	0.000015	0.62929	D	0.149321	0.986044	0.40372	D	1.89	0.50145	L	3.08	0.08460	T	-2.09	0.47683	N	0.504	0.53620	-1.0488	0.14733	T	0.022	0.09147	T	10	0.019073784	0.00422	T	0.011117	0.28415	T	0.123	0.34020	0.277	0.23004	0.0297737177859	0.01360	0.5362988907183861	0.53554	0.739170347851	0.63150	0.414095938206	0.27023	T	0.011209	0.10028	T	-0.484692	0.00695	T	-0.504381	0.21895	T	0.0190104904358857	0.00610	T	0.768923	0.39853	T	0.12089847	0.28439	0.1597907	0.37249	0.12089847	0.28439	0.1597907	0.37248	-4.669	0.33027	T	.	.	0.154	0.34160	B	.	.	2.145346	0.27324	17.42	0.98626354198143218	0.43852	0.80103	0.39831	D	AEFGBI	0.320833	0.42382	N	-0.369699618237352	0.26555	1.450118	-0.263900244380707	0.29297	1.640231	0.940091379908158	0.27417	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.86	3.95	0.44952	0.312000	0.19147	0.543000	0.19351	0.596000	0.33519	0.998000	0.41325	0.997000	0.33255	0.619000	0.31870	0.0:0.8384:0.0:0.1616	10.485	0.43907	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	763.33	55	chr1	205847907	.	C	G	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=684;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.38;MQRankSum=-0.741;QD=13.88;ReadPosRankSum=-1.24;SOR=1.248	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	18	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.020380	0.023392	0.000000	0.034483	0.018293	0.011364	0.05263	5515.83	33	chr1	205915010	.	C	T	5515.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=1124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.595;SOR=0.694	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1448	17	0	2	0
chr1	205921682	205921682	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon17:c.G1939A:p.G647S,SLC26A9:NM_134325:exon17:c.G1939A:p.G647S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.012001727016	.	.	0.0001	0.0002	0.0005	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs773345183	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0001	0.0002	0	7.771e-05	0	0.0014	0.0001	0.0002	7.154e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.096e-05	5.752e-05	7.911e-05	5.996e-05	0.0001	0	0	0	0.0004	0	0	0.0001	0	0	0.5	0.07746	T	0.786	0.04860	T	0.0	0.02946	B	0.0	0.01387	B	0.000049	0.00387	N	3.691500	1	0.08975	N	-1.1	0.00987	N	-3.06	0.92457	D	0.59	0.02558	N	0.112	0.11483	-0.3716	0.72912	T	0.417	0.76360	T	10	0.020697892	0.00482	T	0.012002	0.30173	T	0.169	0.43123	.	.	0.112648838833	0.10856	0.2031786687337173	0.20234	0.135698038814	0.15305	0.301892459393	0.10683	T	0.093471	0.39217	T	-0.338078	0.05522	T	-0.443967	0.28364	T	0.0127887791946615	0.00217	T	0.424058	0.11326	T	0.04026245	0.05716	0.046574056	0.06520	0.04026245	0.05716	0.046574056	0.06519	-2.718	0.07455	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	-0.479363	0.01934	0.164	0.26765099323408847	0.01297	0.01762	0.05538	N	AEFDBI	0.043787	0.06965	N	-1.41837991270414	0.02477	0.1094584	-1.45392682089015	0.02735	0.126329	0.998312613620723	0.36741	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.28	-4.27	0.03486	-0.292000	0.08368	-2.342000	0.03876	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2796:0.387:0.3334	5.791	0.17623	860	0.33753	.;STAS domain|STAS domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002533	0.005208	0.001359	0.005848	0.000000	0.000000	0.003106	0.000000	0.02632	567.33	42	chr1	205921682	.	C	T	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=755;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.758;SOR=0.392	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	18	0	1	0
chr1	205992641	205992641	T	G	exonic	RAB7B	.	nonsynonymous SNV	RAB7B:NM_177403:exon3:c.A235C:p.K79Q,RAB7B:NM_001164522:exon4:c.A235C:p.K79Q,RAB7B:NM_001304839:exon4:c.A235C:p.K79Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970857512	1.217e-05	7.952e-06	1.645e-05	8.01e-06	0.0003	3.24e-06	9e-07	4.724e-05	1.95e-05	0	0.0003	0	0	0	0	0	6.108e-05	0	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0002	5.24e-06	2.45e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.2653666	0.44032	T	.	.	.	.	.	.	.	.	.	0.378611897903864	0.37776	.	.	.	.	.	0.27339	0.64583	T	.	.	.	.	.	.	.	.	.	0.866813	0.61581	D	.	.	.	.	.	.	.	.	-7.472	0.57413	T	.	.	0.490	0.64104	A	.;.;.	.;.;.	4.641073	0.73888	26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.763000	0.61953	7.846000	0.70742	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	.	.	.	.	.	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1799.33	43	chr1	205992641	.	T	G	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.097;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.494;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1471	18	0	1	0
chr1	205993442	205993442	C	T	exonic	RAB7B	.	nonsynonymous SNV	RAB7B:NM_177403:exon2:c.G158A:p.G53D,RAB7B:NM_001164522:exon3:c.G158A:p.G53D,RAB7B:NM_001304839:exon3:c.G158A:p.G53D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038109780	0.0044	0.0018	0.0044	0.0043	0.0053	0.0042	0.0041	0.0033	0.0032	0.0006	0.0016	0.0052	0	0.0181	0.0008	0.0035	0.0040	0.0053	0.0037	0.0037	0.0031	0.0043	0.0037	0.0034	0.0033	0.0033	0.0032	0.0009	0.0011	0.0017	0.0037	0	0.0202	0.0034	0.0037	0.0028	0.0025	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.17828	.	.	.	.	.	.	.	0.008828044	0.00200	T	.	.	.	.	.	.	.	.	.	0.16437700266990063	0.16357	.	.	.	.	.	0.158014	0.50086	T	.	.	.	.	.	.	.	.	.	0.622038	0.24114	T	.	.	.	.	.	.	.	.	-1.238	0.01306	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	1.530567	0.19640	14.36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.658000	0.61192	3.450000	0.38440	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	.	.	.	.	.	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	615.33	35	chr1	205993442	.	C	T	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.173;DP=702;ExcessHet=0;FS=1.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.151;SOR=0.969	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1101	18	0	1	0
chr1	206013826	206013826	-	TT	exonic	CTSE	.	frameshift insertion	CTSE:NM_001317331:exon5:c.505_506insAA:p.S169Kfs*3,CTSE:NM_001910:exon6:c.730_731insAA:p.S244Kfs*3,CTSE:NM_148964:exon6:c.730_731insAA:p.S244Kfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425866422	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	2.987e-05	2.236e-05	0	0	0	0.0005	8.995e-07	0.0003	0.0053	0.0002	0.0002	8.999e-05	0.0003	0.0064	0.0001	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1816.29	34	chr1	206013826	.	C	CTT	1816.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.631;SOR=0.72	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1830,0,2246	18	0	1	0
chr1	206023037	206023037	G	A	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon2:c.C89T:p.P30L,CTSE:NM_148964:exon2:c.C89T:p.P30L	.	434	1087	1	0	0	1	0.00045977	.	.	.	3959831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.000709745588222	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370714511	8.214e-05	8.209e-05	7.219e-05	9.219e-05	0.0003	7.006e-05	6.556e-05	0.0002	0.0001	8.966e-05	0.0003	3.833e-05	0	0	0.0003	7.108e-05	0.0001	0.0002	8.553e-05	8.533e-05	6.433e-05	0.0001	0.0004	4.963e-05	3.967e-05	7.31e-05	3.341e-05	7.23e-05	0	0	0	0	0	0	0.0001	0.0005	0.0004	0.086	0.54683	T	0.03	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.50976	T	-2.41	0.52938	N	0.245	0.28965	.	.	.	.	.	.	.	0.13214403	0.25150	T	.	.	.	.	.	.	.	.	.	0.7976888513533332	0.79721	.	.	.	.	.	0.402254	0.75933	T	.	.	.	.	.	.	.	.	.	0.314569	0.07200	T	.	.	.	.	.	.	.	.	-5.644	0.43192	T	.	.	0.098	0.22464	B	.;.	.;.	1.964332	0.24954	16.59	.	.	.	.	.	.	0.126009	0.24277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370000	0.20166	0.401000	0.18000	0.676000	0.76740	0.028000	0.20300	0.909000	0.28100	0.734000	0.35233	.	.	.	.	.	Aspartic peptidase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	655.33	34	chr1	206023037	.	G	A	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.908;DP=689;ExcessHet=0;FS=4.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.286;SOR=0.283	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	18	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G,FAM72A:NM_001385243:exon2:c.A49G:p.R17G,FAM72A:NM_001385244:exon2:c.A49G:p.R17G,FAM72A:NM_001385245:exon2:c.A49G:p.R17G	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	104.36	20	chr1	206203947	.	T	C	104.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=248;ExcessHet=0;FS=0;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.026;MQ=29.61;MQRankSum=0.293;QD=6.52;ReadPosRankSum=0.511;SOR=1.445	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	18	0	1	0
chr1	206507765	206507765	G	A	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.G163A:p.G55R,RASSF5:NM_182664:exon1:c.G163A:p.G55R	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0709774793557	.	0.000798722	0.0062	0	0	0	.	0.0053	0	0.0070	0.0004657	72	154602	rs559841670	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0005	0.0048	0.0041	4.076e-05	0.0003	0.0011	0	3.109e-05	0.0068	0.0003	0.0010	0.0039	0.0005	0.0005	0.0003	0.0007	0.0029	0.0004	0.0004	0.0018	0.0014	4.826e-05	0	0.0017	0.0009	0	0.0003	0.0205	0.0003	0.0009	0.0029	.	.	.	0.04	0.50809	D	0.007	0.20242	B	0.003	0.12133	B	0.031133	0.25211	N	0.247654	1	0.08975	N	0.805	0.20218	L	3.05	0.15028	T	.	.	.	0.126	0.14622	-1.0190	0.24041	T	0.029	0.12322	T	10	0.0072321594	0.00165	T	0.070977	0.71148	D	.	.	0.258	0.20002	0.344017737713	0.34012	0.4799395137607475	0.47913	.	.	0.880688548088	0.94053	D	0.061994	0.31798	T	-0.579632	0.00194	T	-0.603459	0.12523	T	0.0554501720190643	0.06433	T	0.786621	0.42528	T	0.068282165	0.14862	0.20474322	0.44611	0.068282165	0.14862	0.20474322	0.44610	-3.312	0.13893	T	.	.	0.142	0.31304	B	.;.;.	.;.;.	2.168501	0.27635	17.53	0.97309312689330918	0.33318	0.49772	0.28510	N	AEFDBHCI	0.038566	0.05478	N	-0.660024206835807	0.17169	0.8811781	-0.640150421164478	0.18466	0.9865569	0.999999967001659	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.76	2.81	0.31971	1.698000	0.37413	0.000000	0.13247	0.368000	0.20244	0.978000	0.35038	0.184000	0.23444	0.059000	0.15899	0.0:0.197:0.803:0.0	10.591	0.44502	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005882	0.000000	0.006000	0.027586	0.000000	0.000000	0.000000	0.004808	0.02632	245.33	40	chr1	206507765	.	G	A	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=2.11;SOR=0.582	GT:AD:DP:GQ:PL	0/0:18,0:18:42:0,42,630	18	0	1	0
chr1	206507843	206507843	C	G	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.C241G:p.R81G,RASSF5:NM_182664:exon1:c.C241G:p.R81G	.	0	225	1	0	0	1	0.00221729	.	.	.	2766940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.291336521578	.	.	0.0013	0	0	0	.	0	0	0.0018	6.47e-05	10	154602	rs782542315	6.553e-05	6.293e-05	3.491e-05	9.715e-05	0.0010	5.42e-05	4.993e-05	0.0008	0.0007	0	0	0	0	0	0	1.347e-05	7.435e-05	0.0010	5.256e-05	5.25e-05	1.286e-05	9.405e-05	0.0012	2.557e-05	1.83e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.942e-05	0	0.0012	.	.	.	0.502	0.11115	T	0.979	0.68779	D	0.756	0.62173	P	0.145862	0.18132	N	0.564800	0.949446	0.26537	N	0.805	0.20218	L	3.01	0.15492	T	.	.	.	0.275	0.32481	-1.1156	0.02630	T	0.051	0.21689	T	10	0.050320774	0.04748	T	0.291337	0.90574	D	.	.	.	.	0.424313518543	0.42050	0.3852547006531023	0.38440	.	.	0.926956057549	0.98806	D	0.043066	0.26383	T	-0.437367	0.01340	T	-0.446575	0.28076	T	0.230857772328793	0.21992	T	0.769523	0.41827	T	0.2800186	0.51050	0.30568677	0.56595	0.2800186	0.51050	0.30568677	0.56594	-3.886	0.22092	T	.	.	0.091	0.28521	B	.;.;.	.;.;.	3.811532	0.54986	23.6	0.99611300115704871	0.74813	0.77135	0.37893	D	AEFDBCI	0.365704	0.45378	N	0.121313452952391	0.47458	2.971244	0.10631280754417	0.44870	2.760548	0.999999995391462	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	1.946000	0.39909	7.445000	0.58908	0.328000	0.19510	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0:1.0:0.0:0.0	11.992	0.52469	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	330.33	17	chr1	206507843	.	C	G	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=440;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.813;SOR=1.123	GT:AD:DP:GQ:PL	0/0:17,0:17:42:0,42,630	18	0	1	0
chr1	206867420	206867420	A	G	exonic	IL20	.	nonsynonymous SNV	IL20:NM_018724:exon5:c.A415G:p.M139V,IL20:NM_001385166:exon6:c.A415G:p.M139V,IL20:NM_001385167:exon7:c.A415G:p.M139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00833581845204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.09	0.40267	T	0.0	0.02946	B	0.0	0.01387	B	0.794758	0.06732	N	1.087340	1	0.08975	N	2.2	0.62015	M	0.04	0.62051	T	-1.19	0.30346	N	0.148	0.15046	-0.9141	0.46338	T	0.198	0.55258	T	10	0.08889833	0.15351	T	0.008336	0.22080	T	0.108	0.30607	0.521	0.62368	0.299770980665	0.29595	0.15339439611989536	0.15261	0.0974248291006	0.11002	0.250110983849	0.03779	T	0.115239	0.43367	T	-0.238448	0.15547	T	-0.58029	0.14518	T	0.062326437699726	0.07530	T	0.483852	0.14720	T	0.12982735	0.30312	0.14174643	0.33745	0.12982735	0.30312	0.14174643	0.33744	-2.983	0.09999	T	.	.	0.069	0.03372	B	.;.	.;.	0.825457	0.11966	8.527	0.79498210721287221	0.12769	0.19710	0.20766	N	AEFDBHCIJ	0.049580	0.08580	N	-0.671739191783161	0.16830	0.8609072	-0.675357865800989	0.17578	0.9352786	0.999999999991508	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	0.79	0.17756	0.926000	0.28405	0.159000	0.15383	0.756000	0.94297	0.189000	0.24175	0.000000	0.08366	0.970000	0.54328	0.6594:0.0:0.3406:0.0	7.697	0.27764	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1144.33	36	chr1	206867420	.	A	G	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=760;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.778;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr1	206909474	206909474	G	C	exonic	FCMR	.	nonsynonymous SNV	FCMR:NM_001193338:exon6:c.C901G:p.R301G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00139776	0.0270	0.0667	.	0	.	0	.	0	0.0001229	19	154602	rs528456314	0.0001	0.0001	0.0001	9.865e-05	0.0037	9.623e-05	9.037e-05	0.0031	0.0029	0.0037	0.0012	0	0	0	0.0018	1.375e-05	0.0003	0	0.0009	0.0010	0.0009	0.0009	0.0030	0.0008	0.0008	0.0026	0.0024	0.0030	0	0.0007	0	0	0	0	7.354e-05	0.0019	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.032	0.13767	T	6	0.0033306181	0.00057	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.700234	0.00036	T	-0.780087	0.02450	T	0.00980626724475899	0.00129	T	0.316668	0.06305	T	.	.	.	.	.	.	.	.	-3.384	0.14842	T	.	.	0.099	0.16800	B	.	.	-0.105964	0.03606	0.708	0.65275282016790193	0.07727	0.05551	0.11447	N	ALL	0.036408	0.04845	N	-1.22292746244925	0.04669	0.2112092	-1.48493912080499	0.02467	0.1135334	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.2	-6.4	0.01772	-1.785000	0.01864	-5.346000	0.01753	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0833:0.3226:0.1563:0.4379	3.663	0.07781	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.007576	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	501.33	33	chr1	206909474	.	G	C	501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=665;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-3.025;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1072	18	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.010101	0.006793	0.005848	0.000000	0.008621	0.027439	0.018939	0.05263	2038.83	45	chr1	206937104	.	C	T	2038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.583;DP=886;ExcessHet=0.119;FS=4.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=2.17;SOR=0.41	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	17	0	2	0
chr1	207099828	207099828	G	A	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon6:c.G658A:p.E220K,C4BPB:NM_001017364:exon6:c.G655A:p.E219K,C4BPB:NM_001017365:exon7:c.G658A:p.E220K,C4BPB:NM_001017366:exon7:c.G655A:p.E219K,C4BPB:NM_001017367:exon7:c.G658A:p.E220K	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	7.7e-05	0.00319489	0.0019	0	0.0003	0	0.0005	0.0002	0.0022	0.0124	0.0015847	245	154602	rs200403210	0.0008	0.0008	0.0005	0.0012	0.0118	0.0008	0.0008	0.0112	0.0110	2.987e-05	2.236e-05	0	0	0.0002	0.0014	0.0001	0.0008	0.0118	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0068	0.0061	2.406e-05	0	0	0	0	0	0	0.0002	0.0005	0.0089	0.244	0.18000	T	0.605	0.07816	T	0.001	0.09854	B	0.003	0.12133	B	0.716791	0.09968	N	0.855319	1	0.08975	N	0.635	0.15989	N	1.82	0.25509	T	-0.62	0.18248	N	0.145	0.18239	-0.9534	0.40380	T	0.023	0.09923	T	10	0.0037302673	0.00069	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.2707604334934363	0.26989	0.168761779113	0.19026	0.275656819344	0.06894	T	0.069292	0.33673	T	-0.616113	0.00116	T	-0.646749	0.09183	T	0.00606718460364602	0.00067	T	0.591441	0.21800	T	0.053195145	0.10031	0.050218195	0.07836	0.053195145	0.10031	0.050218195	0.07835	-3.491	0.16334	T	.	.	0.104	0.20741	B	.;.;.;.	.;.;.;.	-0.371172	0.02323	0.248	0.61116430728012705	0.06629	0.01625	0.05246	N	AEFBI	0.643370	0.62001	D	-1.5649171726534	0.01449	0.06323573	-1.61101378014446	0.01589	0.07208602	0.999996414264505	0.74766	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.03	-5.75	0.02190	-1.152000	0.03283	-0.261000	0.10426	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.080000	0.17246	0.5575:0.2425:0.2:0.0	7.153	0.24795	629	0.65079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1241.33	33	chr1	207099828	.	G	A	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.708;DP=703;ExcessHet=0;FS=8.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.27;SOR=0.491	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1214	18	0	1	0
chr1	207134587	207134587	G	A	exonic	C4BPA	.	nonsynonymous SNV	C4BPA:NM_000715:exon9:c.G1268A:p.G423E	.	422	1081	17	2	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00198887350663	0.0036	0.00119808	0.0035	0.0013	0.0028	0	0.0008	0.0049	0.0022	0.0025	0.0033311	515	154602	rs116700161	0.0039	0.0039	0.0038	0.0040	0.0133	0.0038	0.0038	0.0109	0.0100	0.0023	0.0030	0.0056	0	0.0006	0.0133	0.0043	0.0038	0.0023	0.0032	0.0032	0.0031	0.0033	0.0057	0.0029	0.0028	0.0047	0.0044	0.0010	0	0.0057	0.0072	0	0.0003	0.0068	0.0044	0.0047	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.315838	0.04043	N	1.534540	1	0.08975	N	-0.42	0.02904	N	0.97	0.42502	T	1.91	0.00451	N	0.067	0.03956	-0.9912	0.32295	T	0.030	0.12935	T	10	0.004659772	0.00098	T	0.001989	0.03588	T	0.029	0.06676	.	.	0.0884992946249	0.08302	0.4354204860056958	0.43459	0.326256688425	0.34772	0.229504972696	0.01932	T	0.015339	0.12888	T	-0.705957	0.00034	T	-0.786157	0.02272	T	0.00216391015312993	0.00022	T	0.185681	0.01928	T	0.030554766	0.02739	0.0517051	0.08375	0.030554766	0.02739	0.0517051	0.08375	-2.025	0.03277	T	.	.	0.093	0.14247	B	.	.	-0.831776	0.01046	0.045	0.3417219507015683	0.02076	0.00142	0.00866	N	AEFI	0.313189	0.41841	N	-1.84554012682975	0.00443	0.01905541	-1.85636219953803	0.00595	0.02643259	0.999995766050152	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.98	-5.98	0.02034	-0.102000	0.10926	-3.112000	0.03051	-0.194000	0.09177	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.3054:0.0:0.5401:0.1545	6.619	0.21987	609	0.67094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.006793	0.011696	0.000000	0.008621	0.024390	0.000000	0.05263	2018.83	33	chr1	207134587	.	G	A	2018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=744;ExcessHet=0.119;FS=0.75;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.13;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	17	0	2	0
chr1	207485498	207485498	T	A	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001877:exon18:c.T3046A:p.F1016I,CR2:NM_001006658:exon19:c.T3223A:p.F1075I	Immunodeficiency, common variable, 7, Autosomal recessive	4	1515	2	1	0	4	0.00131839	.	.	.	1039754	Immunodeficiency,_common_variable,_7	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00560890129898	.	.	1.664e-05	0	0	0	0	1.511e-05	0	6.062e-05	1.29e-05	2	154602	rs756117589	1.164e-05	1.163e-05	1.498e-05	8.254e-06	0.0003	7.09e-06	5.8e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.098e-06	3.313e-05	4.639e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.238	0.17821	T	0.19	0.28482	T	0.003	0.26387	B	0.004	0.22131	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.65	0.29085	T	0.2	0.08495	N	0.152	0.19055	-0.9894	0.32753	T	0.023	0.09696	T	9	0.04843062	0.04292	T	0.005609	0.14500	T	0.028	0.06331	.	.	0.126345400529	0.12197	0.44002283457850566	0.43919	0.23021333136	0.25569	0.312844157219	0.12337	T	0.110298	0.42487	T	-0.37074	0.03557	T	-0.673465	0.07389	T	0.0187664534896612	0.00588	T	0.440756	0.12177	T	0.036151797	0.04393	0.042637583	0.05124	0.036151797	0.04393	0.042637583	0.05124	-3.704	0.19377	T	.	.	0.063	0.02342	B	.;.;.	.;.;.	0.303101	0.06786	3.306	0.3397564747917865	0.02053	0.00763	0.03156	N	AEFBI	0.033753	0.04062	N	-1.72254549081618	0.00764	0.03302862	-1.79739281218243	0.00768	0.03423039	0.992120783991058	0.32727	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.96	-8.79	0.00709	-0.926000	0.04096	-0.395000	0.09449	-0.349000	0.05595	0.005000	0.17040	0.000000	0.08366	0.219000	0.22435	0.3792:0.1334:0.3311:0.1563	2.020	0.03292	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	33	chr1	207485498	.	T	A	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.363;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr1	207609528	207609528	A	T	exonic	CR1	.	nonsynonymous SNV	CR1:NM_000573:exon29:c.A4785T:p.E1595D,CR1:NM_001381851:exon29:c.A4785T:p.E1595D,CR1:NM_000651:exon37:c.A6135T:p.E2045D	CR1 deficiency (1)	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0129233858744	.	0.000599042	0.0003	0	0	0	0	0	0	0.0026	0.0002911	45	154602	rs533388914	0.0001	0.0001	6.535e-05	0.0002	0.0018	0.0001	9.568e-05	0.0015	0.0014	2.987e-05	0	0	0	0	0.0003	5.396e-06	0.0001	0.0018	7.88e-05	7.874e-05	1.285e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.158	0.42199	T	0.104	0.45318	T	0.024	0.57405	B	0.011	0.56004	B	.	.	.	.	1	0.08975	N	.	.	.	-0.09	0.64086	T	-0.88	0.31375	N	0.072	0.09772	-0.8593	0.51312	T	0.218	0.57994	T	9	0.0113388	0.00248	T	0.012923	0.31907	T	0.150	0.39571	0.483	0.56462	0.522290170867	0.51874	0.45268115568614414	0.45186	0.37776733009	0.39206	0.297674357891	0.10055	T	.	.	.	-0.514185	0.00475	T	-0.518631	0.20434	T	0.0143256858935784	0.00286	T	0.132687	0.01257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.40842	B	.;.;.;.;.	.;.;.;.;.	-0.198783	0.03097	0.489	0.85119539727310922	0.15697	0.01228	0.04347	N	AEFI	0.049199	0.08476	N	-0.9807194414398	0.09015	0.4249954	-1.21670493031018	0.05640	0.2693407	3.70974777143252E-4	0.06707	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.54	-4.92	0.02848	-0.409000	0.07223	-6.971000	0.01261	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2868:0.5368:0.0:0.1764	5.608	0.16669	743	0.52768	.;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1694.33	34	chr1	207609528	.	A	T	1694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=999;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.505;SOR=0.92	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	18	0	1	0
chr1	207699266	207699266	T	G	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon8:c.T1220G:p.V407G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0247008809563	.	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs773366212	2.737e-06	2.736e-06	0	5.502e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	0.997	0.70673	D	0.658	0.52749	P	.	.	.	.	0.603986	0.32563	D	3.695	0.94570	H	-0.2	0.66113	T	-4.1	0.74900	D	0.37	0.41162	-0.3499	0.73557	T	0.336	0.70297	T	9	0.48850918	0.60852	T	0.024701	0.47687	T	0.320	0.64215	0.575	0.69957	0.42264334713	0.41881	0.5878825004662184	0.58718	0.188238644464	0.21156	0.423179805279	0.28274	T	0.027928	0.20342	T	-0.118662	0.33344	T	-0.226699	0.52090	T	0.862546563148499	0.51284	D	0.671933	0.28057	T	0.76576144	0.81794	0.59763277	0.76634	0.76576144	0.81796	0.59763277	0.76635	-11.321	0.81389	D	.	.	0.159	0.35056	B	.	.	3.282006	0.44973	22.0	0.99565868096289045	0.72075	0.40188	0.26381	N	AEFBHCI	0.071335	0.14196	N	0.154409164794246	0.49020	3.107229	-0.0164631268236269	0.38970	2.303733	0.730513614929091	0.23039	0.656854	0.48797	0	0.69481	0.67340	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	1.65	1.65	0.23015	0.869000	0.27648	0.382000	0.17791	0.363000	0.20128	0.946000	0.32893	0.000000	0.08366	0.967000	0.53440	0.0:0.0:0.0:1.0	5.443	0.15817	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4328.33	41	chr1	207699266	.	T	G	4328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.559;DP=2611;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.009;SOR=0.693	GT:AD:DP:GQ:PL	0/0:285,0:285:99:0,120,1800	18	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	2917.33	231	chr1	208217558	.	G	T	2917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.829;DP=1241;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.056;SOR=0.599	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr1	209617996	209617996	G	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon19:c.C2962T:p.R988W,LAMB3:NM_000228:exon20:c.C2962T:p.R988W,LAMB3:NM_001127641:exon20:c.C2962T:p.R988W	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	540776	not_specified|Amelogenesis_imperfecta_type_1A|Junctional_epidermolysis_bullosa_gravis_of_Herlitz|Junctional_epidermolysis_bullosa,_non-Herlitz_type|Junctional_epidermolysis_bullosa|not_provided	MedGen:CN169374|MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.050599328836	0.0007	0.000599042	0.0010	0.0005	0.0004	0	0.0002	0.0013	0.0044	0.0010	0.000925	143	154602	rs2229467	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0004	0.0006	0.0006	0.0001	0.0007	0.0010	0.0010	0.0010	0.0011	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0009	0	0.0003	0	0.0010	0.0014	0.0008	0.009	0.57480	D	0.002	0.79402	D	0.984	0.60733	D	0.482	0.47127	P	0.003574	0.34767	N	0.282882	0.936442	0.26917	N	2.625	0.76847	M	1.92	0.23082	T	-3.25	0.68651	D	0.804	0.80669	-1.0633	0.10950	T	0.056	0.23450	T	10	0.025251806	0.00725	T	0.050599	0.64308	D	0.113	0.31778	.	.	0.582009938455	0.57872	0.324577760115355	0.32370	0.39025538496	0.40245	0.504817962646	0.39499	T	0.414192	0.76782	T	-0.365599	0.03823	T	-0.343486	0.39949	T	0.0375066812358608	0.03244	T	0.889711	0.63097	D	0.100896165	0.23828	0.13259731	0.31816	0.12248884	0.28783	0.15913592	0.37127	-8.048	0.61397	D	0.7697860856862525	0.85087	0.102	0.26419	B	.;.;.;.	.;.;.;.	4.407602	0.68162	25.2	0.99899868117175306	0.97199	0.06091	0.12066	N	AEFDGBHCI	0.551612	0.56361	D	-0.131438524145152	0.36028	2.07707	-0.184881335122445	0.32090	1.822369	0.999999828027718	0.74766	0.615465	0.37627	0	0.659912	0.62753	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.47	1.91	0.24841	1.461000	0.34866	4.775000	0.44799	0.661000	0.55757	0.247000	0.24819	0.960000	0.29291	0.599000	0.31363	0.0:0.0:0.3571:0.6428	13.431	0.60503	957	0.09725	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	843.33	33	chr1	209617996	.	G	A	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.553;DP=696;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.06;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	209650080	209650080	G	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon2:c.C67T:p.R23C,LAMB3:NM_000228:exon3:c.C67T:p.R23C,LAMB3:NM_001127641:exon3:c.C67T:p.R23C	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	280158	not_provided|Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa_gravis_of_Herlitz	MedGen:C3661900|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.288	0.255030621124	0.0004	0.000399361	0.0007	0.0001	0.0033	0	0	0.0006	0.0047	0.0006	0.0006404	99	154602	rs115191959	0.0005	0.0005	0.0004	0.0005	0.0057	0.0004	0.0004	0.0042	0.0037	5.974e-05	0.0018	0.0003	0	1.873e-05	0.0057	0.0004	0.0006	0.0006	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0012	0.0010	0.0001	0	0.0017	0.0006	0.0002	0	0	0.0004	0.0014	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.72	0.54860	P	0.000498	0.43931	D	0.196022	1	0.81001	D	2.785	0.81254	M	1.16	0.77843	T	-4.31	0.78222	D	0.514	0.54496	0.190	0.85744	D	0.549	0.83465	D	10	0.028091729	0.00945	T	0.255031	0.89275	D	0.288	0.60691	.	.	0.900147024139	0.89915	0.49015242965252953	0.48935	0.484872331888	0.47389	0.542570114136	0.44809	T	0.440994	0.78570	T	-0.0952745	0.37207	T	0.0771382	0.75386	D	0.073548336461529	0.09141	T	0.892111	0.85970	D	0.2873365	0.51745	0.29809177	0.55842	0.2873365	0.51745	0.29809177	0.55841	-10.966	0.79472	D	.	.	0.202	0.44872	B	.;.;.;.	.;.;.;.	5.170130	0.86660	29.0	0.99936329698259074	0.99621	0.72988	0.35709	D	AEFGBHCI	0.690111	0.65055	D	0.635214722858458	0.75413	6.301786	0.632204940182919	0.77289	6.651197	0.999999999999888	0.74766	0.538715	0.22204	0	0.588066	0.40923	0	0.602189	0.34648	0	0.563494	0.21769	0	.	.	5.39	5.39	0.77615	3.553000	0.53459	7.432000	0.58801	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.006	0.89132	943	0.12886	Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal;Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1039.33	44	chr1	209650080	.	G	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.8;SOR=0.655	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr1	210464645	210464645	G	A	exonic	HHAT	.	nonsynonymous SNV	HHAT:NM_001170564:exon6:c.G586A:p.G196R,HHAT:NM_001170587:exon7:c.G1000A:p.G334R,HHAT:NM_001170588:exon7:c.G802A:p.G268R,HHAT:NM_001122834:exon8:c.G997A:p.G333R,HHAT:NM_001170580:exon8:c.G997A:p.G333R,HHAT:NM_018194:exon8:c.G997A:p.G333R	.	.	.	.	.	.	.	.	.	.	.	707060	Chondrodysplasia-pseudohermaphroditism_syndrome|not_provided|HHAT-related_disorder	MONDO:MONDO:0010814,MedGen:C1838654,OMIM:600092,Orphanet:1422|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.438	.	0.0077	0.00938498	0.0027	0.0262	0.0024	0	0	0.0004	0.0022	6.062e-05	0.0027619	427	154602	rs61744143	0.0012	0.0012	0.0013	0.0010	0.0260	0.0011	0.0011	0.0246	0.0240	0.0260	0.0033	0.0001	0	0	0.0035	0.0004	0.0032	0.0001	0.0077	0.0077	0.0080	0.0074	0.0249	0.0073	0.0072	0.0237	0.0232	0.0249	0	0.0047	0	0	0	0.0136	0.0006	0.0085	0.0002	0.016	0.59928	D	0.043	0.56192	D	1.0	0.90584	D	0.978	0.74104	D	0.000052	0.53742	D	0.162289	1	0.81001	D	1.635	0.41844	L	-0.71	0.72889	T	-2.28	0.50830	N	0.836	0.84401	-0.6264	0.63723	T	0.168	0.50713	T	10	0.010553986	0.00234	T	.	.	.	0.438	0.74235	0.635	0.77142	0.827525497501	0.82589	0.8547606727789311	0.85439	0.542418983261	0.51350	0.833783388138	0.87142	D	0.524219	0.83417	D	-0.21474	0.18716	T	-0.0609637	0.66265	T	0.0328902155635902	0.02453	T	0.833717	0.50261	T	0.19860359	0.41769	0.227478	0.47760	0.20134771	0.42143	0.22642021	0.47618	-11.047	0.79915	D	.	.	0.419	0.68768	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.437157	0.90890	32	0.99916498836079992	0.98449	0.96054	0.67324	D	AEFDBHCIJ	0.839862	0.75722	D	0.516727387813039	0.68079	5.168036	0.497621854045349	0.67833	5.137145	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.597571	0.31856	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	7.595000	0.81968	9.927000	0.82550	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	18.310	0.90135	816	0.41767	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.010101	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	755.33	33	chr1	210464645	.	G	A	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=674;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.645;SOR=1.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr1	211360765	211360765	A	G	exonic	TRAF5	.	nonsynonymous SNV	TRAF5:NM_001033910:exon6:c.A607G:p.I203V,TRAF5:NM_001319207:exon6:c.A640G:p.I214V,TRAF5:NM_004619:exon6:c.A607G:p.I203V,TRAF5:NM_145759:exon6:c.A607G:p.I203V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00754882984455	.	0.000599042	0.0004	0	0	0	0	0	0	0.0033	0.0003687	57	154602	rs537874767	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	0	0	2.519e-05	0	0.0002	1.799e-06	0.0002	0.0046	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	0.169	0.22920	T	0.327	0.18732	T	0.909	0.50183	P	0.644	0.52249	P	0.233487	0.15867	N	0.658252	0.728672	0.81001	D	2.09	0.57893	M	1.47	0.31987	T	-0.57	0.17210	N	0.072	0.04668	-1.1146	0.02703	T	0.099	0.36856	T	10	0.00897485	0.00203	T	0.007549	0.20033	T	0.081	0.23632	0.556	0.67409	0.423597194605	0.41979	0.26889769451675694	0.26802	0.120721004158	0.13590	0.461989223957	0.33584	T	0.071494	0.34221	T	-0.473319	0.00811	T	-0.453187	0.27346	T	0.112716055916659	0.13703	T	0.628837	0.24395	T	0.05758924	0.11479	0.07042655	0.14962	0.05758924	0.11478	0.07042655	0.14962	-4.433	0.30001	T	.	.	0.088	0.12037	B	.;.;.	.;.;.	2.210913	0.28203	17.72	0.98863238313784718	0.47511	0.79582	0.39463	D	AEFBI	0.145284	0.26845	N	0.101380256573728	0.46527	2.891711	0.099529484987303	0.44525	2.732611	0.135850223909901	0.17180	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	4.15	0.47978	1.207000	0.31938	2.815000	0.34930	0.691000	0.84096	0.990000	0.36992	0.946000	0.28899	0.912000	0.44740	0.8428:0.1572:0.0:0.0	10.928	0.46413	900	0.24599	Zinc finger, TRAF-type|Zinc finger, TRAF-type;Zinc finger, TRAF-type|Zinc finger, TRAF-type;Zinc finger, TRAF-type|Zinc finger, TRAF-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	42	chr1	211360765	.	A	G	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.024;DP=789;ExcessHet=0;FS=8.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.705;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	18	0	1	0
chr1	211576034	211576034	G	A	exonic	SLC30A1	.	nonsynonymous SNV	SLC30A1:NM_021194:exon2:c.C878T:p.A293V	.	436	1083	2	1	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.00956383795225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750634962	4.791e-06	5.472e-06	1.362e-06	8.256e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	1.657e-05	0	6.571e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.299	0.14546	T	0.295	0.20680	T	0.201	0.29693	B	0.089	0.29769	B	0.044550	0.23626	N	0.489631	0.96711	0.25863	N	0.345	0.11182	N	-0.08	0.63911	T	-0.28	0.11547	N	0.176	0.18920	-1.0136	0.25784	T	0.129	0.43767	T	10	0.10432905	0.19229	T	0.009564	0.25016	T	0.183	0.45592	.	.	0.24933006939	0.24537	0.2467274031715188	0.24586	0.681731674363	0.60068	0.348809659481	0.17748	T	0.212	0.57305	T	-0.029456	0.47496	T	-0.280088	0.46794	T	0.313452353585903	0.25555	T	0.675332	0.28377	T	0.045988683	0.07621	0.05424769	0.09294	0.045988683	0.07620	0.05424769	0.09293	-4.652	0.32818	T	.	.	0.087	0.11269	B	.	.	2.953498	0.39306	20.9	0.96877526958992943	0.31446	0.95023	0.63158	D	AEFDGBCI	0.472982	0.51786	N	-0.0481384439342829	0.39686	2.344342	0.10854931533317	0.44984	2.769852	0.999999631186355	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.638787	0.57140	0	.	.	5.44	3.56	0.39892	6.534000	0.73741	6.570000	0.55965	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.32:0.0:0.68:0.0	5.531	0.16275	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1797.33	33	chr1	211576034	.	G	A	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.397;DP=739;ExcessHet=0;FS=4.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-1.748;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,22:126:99:0|1:212100360_A_G:157,0,3768:212100360	12	0	7	0
chr1	212100368	212100368	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C565G:p.L189V,DTL:NM_001286230:exon13:c.C1252G:p.L418V,DTL:NM_016448:exon14:c.C1378G:p.L460V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0373866189907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.135	0.34241	T	0.992	0.64738	D	0.858	0.61127	P	0.000387	0.44960	D	0.146389	0.985426	0.24712	N	2.135	0.59519	M	-0.71	0.72889	T	-0.65	0.19085	N	0.474	0.50958	-0.7400	0.58452	T	0.334	0.70109	T	10	0.32420287	0.49747	T	0.037387	0.57584	D	0.169	0.43123	0.136	0.04008	0.699552115392	0.69695	0.2605053506941276	0.25964	0.879506373113	0.69716	0.489359259605	0.37349	T	0.167041	0.51351	T	-0.0613747	0.42691	T	-0.325937	0.41920	T	0.863689363002777	0.51391	D	0.921208	0.71446	D	0.1565374	0.35320	0.07393336	0.16121	0.1565374	0.35319	0.07393336	0.16121	-3.705	0.19392	T	.	.	0.112	0.21877	B	.;.	.;.	4.130189	0.61802	24.4	0.99745407823683807	0.83852	0.75146	0.36781	D	AEFGBI	0.133306	0.25292	N	0.269346036975183	0.54602	3.62539	0.267294656778686	0.53639	3.531912	0.974641657836459	0.29560	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.51	0.39297	1.718000	0.37622	4.025000	0.41286	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	1.000000	0.97212	0.1382:0.6517:0.0:0.2101	6.182	0.19692	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	71	chr1	212100368	.	C	G	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.641;DP=1206;ExcessHet=0;FS=56.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.1;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	18	0	1	0
chr1	212766267	212766267	T	C	exonic	NSL1	.	nonsynonymous SNV	NSL1:NM_001042549:exon5:c.A506G:p.N169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000769052928371	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890044155	2.076e-06	3.181e-06	0	3.804e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.681e-05	0	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.447	0.13066	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.17	0.18103	-1.0329	0.19522	T	0.055	0.23148	T	7	0.08486748	0.14268	T	7.69E-4	0.00568	T	.	.	.	.	0.233785782151	0.22967	.	.	.	.	.	.	.	.	.	.	-0.342529	0.05214	T	-0.729796	0.04337	T	0.0250359026030656	0.01277	T	0.320668	0.06474	T	.	.	.	.	.	.	.	.	-2.754	0.07768	T	.	.	0.069	0.03266	B	.	.	0.409083	0.07802	4.491	0.67812588076391944	0.08467	0.00207	0.01180	N	AEFBI	0.030131	0.02974	N	-1.28019066554531	0.03914	0.175734	-1.35455424429624	0.03752	0.1756913	0.00158323347810001	0.08668	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	.	.	.	0.137000	0.15816	-1.210000	0.06016	0.158000	0.17713	0.052000	0.21487	0.000000	0.08366	0.034000	0.13613	.	.	.	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	307.33	30	chr1	212766267	.	T	C	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.631;DP=608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.486;SOR=0.738	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr1	212889195	212889195	A	G	exonic	FLVCR1	.	nonsynonymous SNV	FLVCR1:NM_014053:exon8:c.A1463G:p.Y488C	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	3407516	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0804261677751	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780491898	6.842e-06	6.84e-06	6.807e-06	6.877e-06	0.0002	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.015	0.61642	D	0.993	0.65571	D	0.848	0.60574	P	0.001333	0.39379	N	0.292166	0.999971	0.18612	N	3.125	0.87999	M	0.25	0.59449	T	-5.31	0.84457	D	0.666	0.67477	-0.5385	0.67220	T	0.346	0.71123	T	10	0.75491524	0.75910	D	0.080426	0.73459	D	0.228	0.52768	0.401	0.43081	0.794010472913	0.79210	0.6248225016940439	0.62415	0.573740725089	0.53422	0.320484161377	0.13495	T	0.492493	0.81643	T	-0.0790937	0.39862	T	-0.254535	0.49367	T	0.769604384899139	0.44415	D	0.926607	0.72946	D	0.17520937	0.38366	0.18327892	0.41308	0.17520937	0.38366	0.18327892	0.41307	-11.246	0.80990	D	.	.	0.085	0.10256	B	.	.	3.003999	0.40148	21.1	0.99463889982670961	0.65944	0.16071	0.19217	N	AEFBI	0.066502	0.13027	N	0.192343704921958	0.50831	3.269472	0.0463776055335076	0.41896	2.524841	0.232029545812521	0.18476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	1.173000	0.31529	6.131000	0.53917	0.756000	0.94297	0.031000	0.20493	0.916000	0.28226	0.034000	0.13613	0.8665:0.0:0.0:0.1335	11.595	0.50222	824	0.40336	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1020.33	102	chr1	212889195	.	A	G	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.969;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.107;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	18	0	1	0
chr1	212895279	212895279	T	G	exonic	FLVCR1	.	nonsynonymous SNV	FLVCR1:NM_014053:exon10:c.T1657G:p.S553A	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	1	1515	5	1	0	7	0.00230491	.	.	.	280288	FLVCR1-related_disorder|Inborn_genetic_diseases|Retinal_dystrophy|not_specified|Posterior_column_ataxia-retinitis_pigmentosa_syndrome|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.008	0.0451937785314	0.0008	0.000199681	0.0002	0.0016	8.664e-05	0	0	0	0	6.076e-05	0.0001746	27	154602	rs149887215	9.994e-05	9.987e-05	0.0001	9.081e-05	0.0025	8.651e-05	8.139e-05	0.0021	0.0019	0.0025	4.472e-05	0	2.522e-05	0	0.0010	7.2e-06	0.0007	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.076	0.42614	T	0.001	0.07471	B	0.003	0.08700	B	0.002856	0.35836	N	0.231325	0.995976	0.23150	N	1.79	0.46772	L	-1.64	0.82533	D	-0.36	0.13035	N	0.099	0.08088	-0.5943	0.65048	T	0.398	0.74995	T	10	0.007948965	0.00180	T	0.045194	0.61862	D	0.180	0.45073	.	.	0.900275580692	0.89928	0.39560674530606715	0.39475	0.172134640921	0.19387	0.396480590105	0.24579	T	0.057905	0.30695	T	-0.372336	0.03478	T	-0.320841	0.42484	T	0.0122809105882335	0.00199	T	0.351565	0.07865	T	0.039296318	0.05398	0.04790438	0.07002	0.039296318	0.05398	0.04790438	0.07001	-5.668	0.43408	T	.	.	0.067	0.02370	B	.	.	1.433024	0.18516	13.78	0.98445884948229523	0.41564	0.24092	0.22285	N	AEFGBI	0.037539	0.05178	N	-0.392181702084928	0.25746	1.399956	-0.321124694809052	0.27417	1.521206	0.0252489144287933	0.13635	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.39	3.03	0.34070	0.913000	0.28233	1.153000	0.24496	0.665000	0.62972	0.536000	0.27236	0.215000	0.23672	0.945000	0.48827	0.0:0.0894:0.1737:0.7369	5.542	0.16331	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1453.33	105	chr1	212895279	.	T	G	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.344;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.023;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	213000354	213000354	G	T	exonic	ANGEL2	.	nonsynonymous SNV	ANGEL2:NM_001300757:exon6:c.C784A:p.Q262K,ANGEL2:NM_001300758:exon6:c.C784A:p.Q262K,ANGEL2:NM_001300753:exon7:c.C913A:p.Q305K,ANGEL2:NM_001300755:exon7:c.C913A:p.Q305K,ANGEL2:NM_144567:exon7:c.C1291A:p.Q431K	.	423	1075	24	0	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00310057964032	0.0018	0.00179712	0.0019	0.0003	0.0019	0.0001	0.0003	0.0029	0.0022	0.0006	0.0019405	300	154602	rs143386835	0.0020	0.0020	0.0019	0.0020	0.0061	0.0019	0.0019	0.0045	0.0039	0.0002	0.0019	0.0016	0	0.0002	0.0061	0.0022	0.0025	0.0008	0.0018	0.0018	0.0017	0.0020	0.0049	0.0016	0.0016	0.0040	0.0037	0.0004	0	0.0049	0.0017	0	9.427e-05	0.0068	0.0024	0.0028	0.0012	1.0	0.00964	T	1.0	0.02522	T	0.0	0.02946	B	0.0	0.01387	B	0.431435	0.12743	N	0.774749	0.999978	0.53665	D	-0.435	0.02851	N	2.05	0.40469	T	0.06	0.06253	N	0.056	0.02759	-0.9872	0.33298	T	0.024	0.10284	T	10	0.003398776	0.00059	T	0.003101	0.06726	T	0.021	0.04004	.	.	0.0666544352282	0.05500	0.36420257599318145	0.36334	0.27552616694	0.30027	0.320506691933	0.13497	T	0.131969	0.46178	T	-0.655854	0.00067	T	-0.718856	0.04851	T	0.000174284356663164	0.00001	T	0.510449	0.16283	T	0.026465869	0.01707	0.03996491	0.04210	0.026465869	0.01707	0.03996491	0.04210	-3.804	0.24489	T	.	.	0.051	0.00375	B	.;.;.	.;.;.	0.667273	0.10358	7.084	0.33758563679166287	0.02028	0.00526	0.02443	N	AEFBI	0.021870	0.01026	N	-1.19509625062244	0.05074	0.2304575	-1.0570101247486	0.08561	0.4215271	0.708608403772298	0.22791	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.38	-1.53	0.08156	0.460000	0.21635	0.176000	0.15576	-0.140000	0.12423	0.126000	0.23278	0.060000	0.22018	0.993000	0.69303	0.0:0.1767:0.477:0.3463	5.872	0.18055	798	0.45050	Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.009511	0.000000	0.050000	0.000000	0.006098	0.003788	0.02632	1287.33	36	chr1	213000354	.	G	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.27;DP=731;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.284;SOR=1.016	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr1	213129822	213129822	A	C	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.A732C:p.E244D,RPS6KC1:NM_001287221:exon5:c.A225C:p.E75D,RPS6KC1:NM_001349646:exon6:c.A768C:p.E256D,RPS6KC1:NM_012424:exon6:c.A768C:p.E256D,RPS6KC1:NM_001287218:exon7:c.A225C:p.E75D,RPS6KC1:NM_001287219:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349648:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349649:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349653:exon7:c.A225C:p.E75D,RPS6KC1:NM_001349650:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349652:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349654:exon8:c.A225C:p.E75D,RPS6KC1:NM_001349651:exon9:c.A225C:p.E75D	.	429	1092	1	0	0	1	0.000457666	.	.	.	1636662	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0972399132145	.	0.000798722	0.0006	0.0002	0.0030	0.0007	0.0002	0.0004	0.0011	0.0004	0.0005627	87	154602	rs150727119	0.0003	0.0003	0.0004	0.0003	0.0023	0.0003	0.0003	0.0020	0.0018	0.0003	0.0023	0	0.0002	0.0003	0.0002	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0005	0	0.0007	0	0.0004	9.414e-05	0	0.0002	0.0005	0.0006	0.013	0.53900	D	0.154	0.34241	T	0.951	0.90584	P	0.759	0.92359	P	0.000064	0.52346	D	0.164203	0.999974	0.81001	D	2.545	0.74286	M	-0.6	0.71662	T	-0.99	0.35991	N	0.343	0.40765	-0.2123	0.77353	T	0.455	0.78778	T	10	0.013160735	0.00280	T	0.09724	0.76739	D	0.292	0.61157	0.395	0.42099	0.796922635108	0.79503	0.23315004453690255	0.23230	0.388317512424	0.40095	0.493511229753	0.37926	T	0.017502	0.14269	T	-0.322885	0.06664	T	-0.241505	0.50653	T	0.0503519921522445	0.05562	T	0.747925	0.39623	T	0.15961972	0.35847	0.100627795	0.24066	0.15961972	0.35847	0.100627795	0.24066	-8.206	0.62539	D	.	.	0.119	0.42806	B	.;.;.;.;.	.;.;.;.;.	2.400187	0.30838	18.56	0.99786924014902789	0.87308	0.78313	0.38618	D	AEFBI	0.205917	0.33223	N	0.452539409448095	0.64347	4.687156	0.411274268891286	0.62267	4.43918	0.978728716367079	0.29952	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.54	4.21	0.48984	0.245000	0.17917	1.457000	0.26651	0.691000	0.84096	0.979000	0.35152	0.999000	0.35428	0.875000	0.41745	0.7638:0.0:0.2362:0.0	7.330	0.25749	819	0.41190	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	699.33	33	chr1	213129822	.	A	C	699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=688;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=2.78;SOR=1.22	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	18	0	1	0
chr1	213241200	213241200	A	G	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.A329G:p.N110S,RPS6KC1:NM_001349665:exon7:c.A329G:p.N110S,RPS6KC1:NM_001349667:exon8:c.A329G:p.N110S,RPS6KC1:NM_001349670:exon8:c.A329G:p.N110S,RPS6KC1:NM_001349672:exon8:c.A329G:p.N110S,RPS6KC1:NM_001287220:exon9:c.A329G:p.N110S,RPS6KC1:NM_001349657:exon9:c.A833G:p.N278S,RPS6KC1:NM_001349664:exon9:c.A329G:p.N110S,RPS6KC1:NM_001349671:exon9:c.A329G:p.N110S,RPS6KC1:NM_001136138:exon10:c.A1688G:p.N563S,RPS6KC1:NM_001287221:exon10:c.A1181G:p.N394S,RPS6KC1:NM_001349646:exon10:c.A1631G:p.N544S,RPS6KC1:NM_001349647:exon10:c.A1361G:p.N454S,RPS6KC1:NM_001349666:exon10:c.A329G:p.N110S,RPS6KC1:NM_001349668:exon10:c.A329G:p.N110S,RPS6KC1:NM_001287218:exon11:c.A1088G:p.N363S,RPS6KC1:NM_001287219:exon11:c.A1088G:p.N363S,RPS6KC1:NM_001349658:exon11:c.A833G:p.N278S,RPS6KC1:NM_001349661:exon11:c.A668G:p.N223S,RPS6KC1:NM_001349669:exon11:c.A329G:p.N110S,RPS6KC1:NM_012424:exon11:c.A1724G:p.N575S,RPS6KC1:NM_001349648:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349649:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349653:exon12:c.A1181G:p.N394S,RPS6KC1:NM_001349654:exon12:c.A1088G:p.N363S,RPS6KC1:NM_001349662:exon12:c.A668G:p.N223S,RPS6KC1:NM_001349650:exon13:c.A1181G:p.N394S,RPS6KC1:NM_001349652:exon13:c.A1181G:p.N394S,RPS6KC1:NM_001349659:exon13:c.A668G:p.N223S,RPS6KC1:NM_001349651:exon14:c.A1181G:p.N394S,RPS6KC1:NM_001349660:exon14:c.A668G:p.N223S	.	431	1080	11	0	0	11	0.00506679	.	.	.	1153472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	.	0.0008	0.0383387	0.0206	0.0024	0.0835	0.0807	0	0.0003	0.0100	0.0475	0.018926	2926	154602	rs56060894	0.0071	0.0071	0.0063	0.0079	0.0671	0.0070	0.0069	0.0651	0.0642	0.0020	0.0671	0	0.0640	0.0003	0.0031	0.0002	0.0082	0.0468	0.0092	0.0093	0.0075	0.0110	0.0702	0.0088	0.0086	0.0642	0.0619	0.0013	0	0.0422	0	0.0702	0.0003	0	0.0003	0.0123	0.0611	0.141	0.25560	T	0.788	0.11153	T	0.011	0.16867	B	0.009	0.14300	B	0.898185	0.08639	N	0.953739	0.999987	0.18612	N	0	0.06538	N	1.44	0.32722	T	-0.58	0.17417	N	0.045	0.05037	-1.0581	0.12235	T	0.006	0.02055	T	10	0.0020132065	0.00028	T	.	.	.	0.153	0.40148	.	.	.	.	0.06278965133200469	0.06217	0.0572773442425	0.06337	0.23692458868	0.02520	T	0.010068	0.09229	T	-0.69059	0.00041	T	-0.697954	0.05938	T	0.00939620338381948	0.00120	T	0.90351	0.66280	D	0.03652894	0.04512	0.03619826	0.03018	0.03453815	0.03894	0.03619826	0.03018	-1.408	0.01586	T	.	.	0.057	0.00705	B	.;.;.;.;.;.	.;.;.;.;.;.	1.259077	0.16566	12.62	0.56067762921775277	0.05474	0.90203	0.51196	D	AEFBI	0.367456	0.45490	N	-0.522451880369752	0.21356	1.132715	-0.390262208197018	0.25285	1.389654	6.69151012511517E-4	0.07575	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	3.86	0.43689	5.565000	0.67067	4.668000	0.44266	0.691000	0.84096	1.000000	0.71638	0.999000	0.35428	0.731000	0.35132	0.925:0.0:0.075:0.0	10.933	0.46442	521	0.74284	.;.;.;.;.;.	.	.	.	.	rs56060894	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1558.33	33	chr1	213241200	.	A	G	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=756;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.112;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr1	213241202	213241202	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.G331A:p.D111N,RPS6KC1:NM_001349665:exon7:c.G331A:p.D111N,RPS6KC1:NM_001349667:exon8:c.G331A:p.D111N,RPS6KC1:NM_001349670:exon8:c.G331A:p.D111N,RPS6KC1:NM_001349672:exon8:c.G331A:p.D111N,RPS6KC1:NM_001287220:exon9:c.G331A:p.D111N,RPS6KC1:NM_001349657:exon9:c.G835A:p.D279N,RPS6KC1:NM_001349664:exon9:c.G331A:p.D111N,RPS6KC1:NM_001349671:exon9:c.G331A:p.D111N,RPS6KC1:NM_001136138:exon10:c.G1690A:p.D564N,RPS6KC1:NM_001287221:exon10:c.G1183A:p.D395N,RPS6KC1:NM_001349646:exon10:c.G1633A:p.D545N,RPS6KC1:NM_001349647:exon10:c.G1363A:p.D455N,RPS6KC1:NM_001349666:exon10:c.G331A:p.D111N,RPS6KC1:NM_001349668:exon10:c.G331A:p.D111N,RPS6KC1:NM_001287218:exon11:c.G1090A:p.D364N,RPS6KC1:NM_001287219:exon11:c.G1090A:p.D364N,RPS6KC1:NM_001349658:exon11:c.G835A:p.D279N,RPS6KC1:NM_001349661:exon11:c.G670A:p.D224N,RPS6KC1:NM_001349669:exon11:c.G331A:p.D111N,RPS6KC1:NM_012424:exon11:c.G1726A:p.D576N,RPS6KC1:NM_001349648:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349649:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349653:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349654:exon12:c.G1090A:p.D364N,RPS6KC1:NM_001349662:exon12:c.G670A:p.D224N,RPS6KC1:NM_001349650:exon13:c.G1183A:p.D395N,RPS6KC1:NM_001349652:exon13:c.G1183A:p.D395N,RPS6KC1:NM_001349659:exon13:c.G670A:p.D224N,RPS6KC1:NM_001349651:exon14:c.G1183A:p.D395N,RPS6KC1:NM_001349660:exon14:c.G670A:p.D224N	.	.	.	.	.	.	.	.	.	.	.	2271959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0023215072552	.	.	8.294e-06	0	8.761e-05	0	0	0	0	0	6.5e-06	1	154602	rs533269129	5.474e-06	5.472e-06	5.446e-06	5.502e-06	2.988e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	2.988e-05	2.239e-05	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29823	T	0.195	0.32675	T	0.097	0.25541	B	0.018	0.18489	B	0.084852	0.20674	N	0.493876	0.916961	0.28232	N	1.525	0.38595	L	1.38	0.34050	T	-1.41	0.34795	N	0.161	0.19861	-0.9717	0.36841	T	0.110	0.39723	T	10	0.11521724	0.21700	T	0.002322	0.04479	T	0.055	0.15663	0.126	0.03173	0.356072328145	0.35220	0.1518321273441709	0.15105	0.0720696283556	0.08078	0.358369171619	0.19148	T	0.013743	0.11830	T	-0.410752	0.01965	T	-0.646266	0.09218	T	0.133827939629555	0.15731	T	0.922308	0.71764	D	0.07585937	0.17118	0.084567845	0.19463	0.07585937	0.17118	0.084567845	0.19463	-3.906	0.22393	T	.	.	0.084	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	2.893075	0.38319	20.7	0.98541403895807	0.42719	0.95925	0.66748	D	AEFBI	0.437828	0.49747	N	-0.249074038493051	0.31140	1.743182	-0.187700419177678	0.31988	1.815494	0.0218196262778002	0.13380	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	4.11	0.47350	3.273000	0.51326	3.877000	0.40219	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.795000	0.37519	0.0753:0.0:0.9247:0.0	13.595	0.61453	521	0.74284	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	33	chr1	213241202	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=705;ExcessHet=0;FS=1.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.624;SOR=0.93	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr1	213242258	213242258	C	T	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.C1387T:p.R463C,RPS6KC1:NM_001349665:exon7:c.C1387T:p.R463C,RPS6KC1:NM_001349667:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001349670:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001349672:exon8:c.C1387T:p.R463C,RPS6KC1:NM_001287220:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001349657:exon9:c.C1891T:p.R631C,RPS6KC1:NM_001349664:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001349671:exon9:c.C1387T:p.R463C,RPS6KC1:NM_001136138:exon10:c.C2746T:p.R916C,RPS6KC1:NM_001287221:exon10:c.C2239T:p.R747C,RPS6KC1:NM_001349646:exon10:c.C2689T:p.R897C,RPS6KC1:NM_001349647:exon10:c.C2419T:p.R807C,RPS6KC1:NM_001349666:exon10:c.C1387T:p.R463C,RPS6KC1:NM_001349668:exon10:c.C1387T:p.R463C,RPS6KC1:NM_001287218:exon11:c.C2146T:p.R716C,RPS6KC1:NM_001287219:exon11:c.C2146T:p.R716C,RPS6KC1:NM_001349658:exon11:c.C1891T:p.R631C,RPS6KC1:NM_001349661:exon11:c.C1726T:p.R576C,RPS6KC1:NM_001349669:exon11:c.C1387T:p.R463C,RPS6KC1:NM_012424:exon11:c.C2782T:p.R928C,RPS6KC1:NM_001349648:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349649:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349653:exon12:c.C2239T:p.R747C,RPS6KC1:NM_001349654:exon12:c.C2146T:p.R716C,RPS6KC1:NM_001349662:exon12:c.C1726T:p.R576C,RPS6KC1:NM_001349650:exon13:c.C2239T:p.R747C,RPS6KC1:NM_001349652:exon13:c.C2239T:p.R747C,RPS6KC1:NM_001349659:exon13:c.C1726T:p.R576C,RPS6KC1:NM_001349651:exon14:c.C2239T:p.R747C,RPS6KC1:NM_001349660:exon14:c.C1726T:p.R576C	.	.	.	.	.	.	.	.	.	.	.	1901763	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.499	0.0447128789857	.	.	1.66e-05	0	0	0	0	1.502e-05	0	6.057e-05	1.29e-05	2	154602	rs757612838	1.71e-05	1.71e-05	1.906e-05	1.513e-05	8.95e-05	1.174e-05	9.92e-06	2.986e-05	1.805e-05	0	8.95e-05	3.828e-05	2.52e-05	0	0	1.529e-05	0	2.319e-05	1.972e-05	1.97e-05	2.571e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.009776	0.30209	N	0.373122	0.999997	0.81001	D	2.01	0.54746	M	0.79	0.49068	T	-7.26	0.94377	D	0.852	0.91852	-0.6722	0.61729	T	0.246	0.61506	T	10	0.95690346	0.95060	D	0.044713	0.61626	D	0.499	0.78288	0.926	0.98773	0.77307478232	0.77099	0.8927348098397787	0.89243	0.47321134245	0.46553	0.883287847042	0.94399	D	0.133013	0.48819	T	0.103155	0.64631	D	0.136	0.79291	D	0.78664493560791	0.45471	D	0.994912	0.98266	D	0.44475228	0.63707	0.50968045	0.71665	0.44475228	0.63708	0.50968045	0.71665	-9.658	0.72218	D	.	.	0.651	0.74177	P	.;.;.;.;.;.	.;.;.;.;.;.	5.485971	0.91432	32	0.99911428284674031	0.98095	0.91532	0.53727	D	AEFBI	0.417224	0.48535	N	0.501554620980338	0.67183	5.047654	0.459963257176594	0.65358	4.813878	9.49640246122201E-4	0.08042	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	3.79	0.42757	3.364000	0.52052	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1353:0.7913:0.0:0.0734	10.073	0.41516	520	0.74355	Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|RPK118-like, kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr1	213242258	.	C	T	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=690;ExcessHet=0;FS=7.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-0.531;SOR=1.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr1	214629136	214629136	C	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon8:c.C1159G:p.Q387E	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1209088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0922487292926	.	.	0.0004	0	0.0005	0	0	0.0006	0.0044	0	0.0003169	49	154602	rs202217426	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	0	0.0005	0.0002	0	0	0.0012	0.0003	0.0004	1.182e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0.0003	0	0	0	0	0.0004	0	0	0.132	0.26519	T	0.293	0.20811	T	0.899	0.49514	P	0.445	0.45921	B	0.005303	0.32910	N	0.000000	0.991241	0.41342	D	.	.	.	-0.98	0.75789	T	-1.62	0.38924	N	0.436	0.47487	-0.5655	0.66193	T	0.316	0.68540	T	9	0.1676682	0.31274	T	0.092249	0.75857	D	0.211	0.50185	.	.	0.770671146095	0.76857	0.06654154212946409	0.06592	0.352143244232	0.37051	0.417834877968	0.27539	T	0.020472	0.16112	T	-0.256756	0.13283	T	-0.26165	0.48660	T	0.231554344296455	0.22025	T	0.691431	0.30091	T	0.20290327	0.42350	0.18453617	0.41512	0.20290327	0.42350	0.18453617	0.41511	-3.028	0.10486	T	.	.	0.113	0.22171	B	.	.	3.401345	0.47136	22.4	0.99287404925641465	0.58149	0.93842	0.59349	D	AEFBI	0.445440	0.50191	N	0.401635726708322	0.61512	4.353361	0.473233865423708	0.66220	4.924035	0.999996099076368	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	3.642000	0.54101	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8622:0.1378:0.0	15.607	0.76429	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	256.33	33	chr1	214629136	.	C	G	256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.889;DP=645;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-1.88;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1131	18	0	1	0
chr1	214644695	214644695	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5125G:p.I1709V	Stromme syndrome, Autosomal recessive	427	1094	1	0	0	1	0.00045683	.	.	.	4109694	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00386734004913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904491544	4.789e-06	4.788e-06	5.445e-06	4.126e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.802	0.04041	T	.	.	.	.	.	.	0.620050	0.10786	N	0.759033	1	0.08975	N	.	.	.	4.01	0.03208	T	-0.05	0.07736	N	0.056	0.02759	-0.9022	0.47760	T	0.005	0.01797	T	10	0.04119876	0.02754	T	0.003867	0.09086	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.03934519502304899	0.03880	0.0470558168492	0.05126	0.273653805256	0.06623	T	.	.	.	-0.417049	0.01787	T	-0.836838	0.01147	T	0.0220588298611661	0.00916	T	0.352865	0.07937	T	0.018694324	0.00392	0.020020457	0.00115	0.018694324	0.00392	0.020020457	0.00115	-3.163	0.12034	T	.	.	0.078	0.06756	B	.	.	-0.902206	0.00922	0.035	0.18074768085870221	0.00553	0.12466	0.17286	N	AEBCI	0.037268	0.05099	N	-1.37494397980221	0.02874	0.1275643	-1.38038927266021	0.03461	0.1615036	0.779067601253488	0.23807	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	-1.47	0.08312	-0.061000	0.11650	-0.511000	0.08745	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.067000	0.16453	0.4368:0.1251:0.3012:0.1369	1.698	0.02694	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	33	chr1	214644695	.	A	G	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=733;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.338;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr1	214646928	214646928	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358C:p.R2453T	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00712553887273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	0.0001	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.155	0.31936	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.12	0.02891	T	-1.2	0.30555	N	0.086	0.06322	-0.8929	0.48677	T	0.004	0.01400	T	10	0.042184114	0.02943	T	0.007126	0.18896	T	0.040	0.10527	.	.	0.0611884634855	0.05136	0.0757247840033901	0.07508	0.0964886587777	0.10898	0.305488526821	0.11225	T	.	.	.	-0.357922	0.04248	T	-0.751907	0.03412	T	0.078707791864872	0.09821	T	0.586341	0.21412	T	0.023646625	0.01122	0.026679387	0.00771	0.023646625	0.01122	0.026679387	0.00771	-0.003	0.00350	T	.	.	0.053	0.00280	B	.	.	0.422405	0.07928	4.638	0.30367532224271809	0.01657	0.11969	0.16977	N	AEFBCI	0.060270	0.11442	N	-1.24191438059187	0.04407	0.1988328	-1.17781697995167	0.06282	0.3018846	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1127.73	96	chr1	214646928	.	G	C	1127.73	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.846;DP=1307;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.1029;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:96:.:.:0,96,1352:.	16	0	2	1
chr1	214646928	214646928	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7358A:p.R2453K	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00209501714324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.662890	0.10412	N	0.800711	1	0.08975	N	.	.	.	4.33	0.02363	T	0.88	0.01664	N	0.033	0.00882	-0.9168	0.45984	T	0.003	0.00800	T	10	0.0232687	0.00604	T	0.002095	0.03855	T	0.035	0.08770	.	.	0.0401082797425	0.02173	0.04429739672639926	0.04373	0.0534996827264	0.05900	0.293804347515	0.09480	T	.	.	.	-0.375736	0.03314	T	-0.777495	0.02529	T	0.0201537649352779	0.00716	T	0.475652	0.14239	T	0.018695991	0.00392	0.029639555	0.01324	0.018695991	0.00392	0.029639555	0.01323	-2.072	0.03465	T	.	.	0.060	0.00949	B	.	.	-0.281984	0.02696	0.351	0.25108559144684195	0.01142	0.00826	0.03330	N	AEFBCI	0.020327	0.00792	N	-1.46868446636409	0.02074	0.0912144	-1.34166765200728	0.03904	0.1831196	0.831134689009249	0.24696	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	1.68	0.23219	2.487000	0.44926	4.177000	0.42312	-0.142000	0.12367	0.512000	0.27048	0.990000	0.31317	0.015000	0.10482	0.6981:0.1476:0.1543:0.0	5.783	0.17581	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	1127.73	96	chr1	214646928	.	G	A	1127.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.846;DP=1307;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.1029;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:96:.:.:0,96,1352:.	17	0	1	1
chr1	214646930	214646933	GTGG	-	exonic	CENPF	.	frameshift deletion	CENPF:NM_016343:exon13:c.7360_7363del:p.V2454Qfs*21	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	608.79	97	chr1	214646929	.	AGTGG	A	608.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.286;DP=1712;ExcessHet=0.119;FS=156.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=3.23;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	17	0	2	0
chr1	214646930	214646930	G	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7360C:p.V2454L	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00381706677572	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.204e-05	0.0007	2.469e-05	1.937e-05	2.72e-05	1.595e-05	1.365e-05	1.929e-05	1.674e-05	0	0	0	0	0	0	2.72e-05	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.487	0.11656	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.12	0.08809	N	0.073	0.04668	-0.9310	0.43992	T	0.006	0.02093	T	10	0.0506604	0.04832	T	0.003817	0.08930	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.042620842135663806	0.04207	0.0532628163546	0.05870	0.319711267948	0.13377	T	.	.	.	-0.296986	0.08946	T	-0.664376	0.07973	T	0.0218487251549959	0.00892	T	0.460354	0.13329	T	0.018291825	0.00350	0.023291185	0.00344	0.018291825	0.00350	0.023291185	0.00344	-5.111	0.38023	T	.	.	0.141	0.30997	B	.	.	-0.701800	0.01316	0.072	0.77479503225080271	0.11893	0.09240	0.15036	N	AEFBCI	0.049360	0.08519	N	-1.32844011772452	0.03354	0.1496695	-1.42160385817231	0.03037	0.1408993	0.998312909651027	0.36741	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-6.04	0.01995	-0.544000	0.06166	0.537000	0.19299	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.5449:0.1791:0.1778:0.0981	3.579	0.07497	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.69	97	chr1	214646930	.	G	C	521.69	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.687;DP=1148;ExcessHet=0.3672;FS=272.812;InbreedingCoeff=-0.329;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,958:.	6	0	1	12
chr1	214646930	214646930	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	521.69	97	chr1	214646930	.	G	*	521.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.687;DP=1148;ExcessHet=0.3672;FS=272.812;InbreedingCoeff=-0.329;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=3.2;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,958:.	5	0	2	12
chr1	214646931	214646931	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T7361C:p.V2454A	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3540567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00974191051461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.159e-06	4.797e-05	2.875e-06	1.441e-06	2.847e-06	5.8e-07	1.6e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.847e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.072	0.43344	T	.	.	.	.	.	.	0.566742	0.11280	N	0.718309	1	0.08975	N	.	.	.	4.0	0.03239	T	-1.36	0.33798	N	0.179	0.19325	-0.9649	0.38230	T	0.012	0.04795	T	10	0.092561364	0.16310	T	0.009742	0.25427	T	0.070	0.20419	.	.	0.152612264143	0.14878	0.04371255466377703	0.04316	0.0909071673723	0.10264	0.333911955357	0.15524	T	.	.	.	-0.242065	0.15086	T	-0.585486	0.14060	T	0.237755138924087	0.22315	T	0.333767	0.07077	T	0.046866454	0.07918	0.049815547	0.07689	0.046866454	0.07917	0.049815547	0.07688	-6.837	0.52834	T	.	.	0.139	0.30529	B	.	.	0.689044	0.10575	7.283	0.87599106332301113	0.17343	0.46589	0.27793	N	AEFBCI	0.075119	0.15077	N	-0.562916688312051	0.20081	1.055942	-0.606986143950877	0.19313	1.035632	0.992357406538036	0.32809	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	4.15	0.47978	1.863000	0.39097	0.125000	0.14969	0.644000	0.52426	0.011000	0.18532	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.1478:0.8522	11.743	0.51072	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	526.21	97	chr1	214646931	.	T	C	526.21	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.344;DP=1165;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.3818;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=3.24;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,958:.	3	0	1	15
chr1	214646931	214646931	T	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	526.21	97	chr1	214646931	.	T	*	526.21	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.344;DP=1165;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.3818;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=3.24;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,958:.	2	0	2	15
chr1	214646932	214646932	G	0	exonic	CENPF	.	.	.	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	520.36	97	chr1	214646932	.	G	*	520.36	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-3.694;DP=1227;ExcessHet=0.3672;FS=274.902;InbreedingCoeff=-0.2287;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=3.17;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:88:.:.:0,88,1674:.	9	0	2	8
chr1	214646933	214646933	-	CCAA	exonic	CENPF	.	frameshift insertion	CENPF:NM_016343:exon13:c.7363_7364insCCAA:p.A2456Nfs*5	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	612.54	96	chr1	214646933	.	G	GCCAA	612.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.781;DP=1137;ExcessHet=0.119;FS=155.141;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=3.19;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	16	0	2	1
chr1	214646936	214646936	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G7366A:p.A2456T	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00760239621579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.04742	T	0.944	0.02662	T	.	.	.	.	.	.	0.733314	0.06383	N	1.181070	1	0.08975	N	.	.	.	4.09	0.02973	T	-0.14	0.09135	N	0.04	0.01347	-0.8946	0.48521	T	0.006	0.02131	T	10	0.040916055	0.02701	T	0.007602	0.20166	T	0.021	0.04004	.	.	0.0297737177859	0.01360	0.03228745723439675	0.03176	0.0528722690581	0.05827	0.247272536159	0.03486	T	.	.	.	-0.346899	0.04924	T	-0.736073	0.04058	T	0.0141524250102874	0.00277	T	0.563244	0.19836	T	0.016506448	0.00202	0.030547872	0.01524	0.016506448	0.00202	0.030547872	0.01523	-4.772	0.34263	T	.	.	0.071	0.03887	B	.	.	-0.467823	0.01973	0.171	0.22124408372094057	0.00875	0.04042	0.09483	N	AEFBCI	0.031977	0.03525	N	-1.21544111961088	0.04775	0.2162557	-1.22169694613862	0.05563	0.2653855	0.732785307770276	0.23078	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	-0.193	0.12593	-0.825000	0.04541	0.241000	0.16308	-0.134000	0.12905	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3323:0.0:0.2792:0.3885	3.680	0.07840	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	137.34	96	chr1	214646936	.	G	A	137.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.24;DP=1108;ExcessHet=0;FS=53.6;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.7;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	18	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.02632	1414.33	33	chr1	215671031	.	C	T	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1317	18	0	1	0
chr1	215743321	215743321	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon59:c.G11404A:p.E3802K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	57536	Retinitis_pigmentosa_39|not_specified|not_provided|Usher_syndrome_type_2A	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0015	0.000399361	0.0025	0.0003	0.0002	0	0.0147	0.0030	0.0022	0.0003	0.0021022	325	154602	rs147900972	0.0018	0.0019	0.0017	0.0018	0.0016	0.0017	0.0017	0.0016	0.0015	9.011e-05	0.0004	0.0002	0	0.0120	0.0005	0.0016	0.0015	0.0003	0.0016	0.0023	0.0014	0.0019	0.0019	0.0014	0.0014	0.0017	0.0016	0.0003	0	0.0013	0.0003	0	0.0084	0	0.0019	0.0010	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.064002	0.02173	N	2.363890	1	0.08975	N	-1.245	0.00777	N	0.61	0.53516	T	0.1	0.05810	N	0.041	0.01421	-0.9308	0.44021	T	0.033	0.14160	T	10	0.0034196079	0.00060	T	.	.	.	0.159	0.41286	.	.	0.666654704183	0.66384	0.3082658320832218	0.30739	0.0321524583886	0.03346	0.209891960025	0.00807	T	0.025839	0.19240	T	-0.638834	0.00085	T	-0.695344	0.06084	T	0.00356447044817729	0.00038	T	0.149085	0.01241	T	0.052373238	0.09758	0.04296978	0.05241	0.052373238	0.09758	0.04296978	0.05241	-4.791	0.34487	T	0.04896887042580937	0.00782	0.063	0.01387	B	.	.	-0.538839	0.01747	0.131	0.31368500502599023	0.01764	0.00234	0.01306	N	AEFI	0.026586	0.02021	N	-2.51814380761243	0.00014	0.0006249036	-2.51023141506991	0.00022	0.0009666474	0.99994018104832	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	-9.88	0.00387	-0.694000	0.05217	-4.788000	0.01986	-2.980000	0.00145	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.3549:0.0817:0.5634	15.983	0.79920	599	0.68140	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	679.33	40	chr1	215743321	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.717;SOR=0.721	GT:AD:DP:GQ:PL	0/0:42,0:42:93:0,93,1395	18	0	1	0
chr1	216246761	216246761	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.G2633A:p.R878H,USH2A:NM_206933:exon13:c.G2633A:p.R878H	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	172775	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|Retinitis_pigmentosa|not_provided|not_specified	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	7.7e-05	0.00499201	0.0021	9.61e-05	0.0003	0	0	0.0001	0	0.0143	0.0018693	289	154602	rs200124505	0.0010	0.0010	0.0007	0.0013	0.0131	0.0009	0.0009	0.0124	0.0122	2.987e-05	0.0002	0	2.519e-05	0	0.0007	0.0002	0.0012	0.0131	0.0006	0.0006	0.0004	0.0008	0.0155	0.0005	0.0005	0.0127	0.0117	7.218e-05	0	0.0001	0	0	0	0	0.0002	0	0.0155	0.301	0.14449	T	0.654	0.06643	T	0.002	0.11197	B	0.003	0.11217	B	0.104334	0.19708	N	0.365745	1	0.08975	N	1.05	0.26816	L	0.09	0.61443	T	-0.75	0.21003	N	0.151	0.16028	-0.9974	0.30646	T	0.082	0.32295	T	10	0.009725839	0.00219	T	.	.	.	0.195	0.47612	.	.	0.73842462645	0.73608	0.20386600860584994	0.20303	0.0342666429461	0.03602	0.170544594526	0.00034	T	0.034612	0.23389	T	-0.598006	0.00150	T	-0.619446	0.11228	T	0.0122396350170308	0.00197	T	0.763224	0.38939	T	0.028714685	0.02252	0.025102153	0.00544	0.027744854	0.02010	0.027636485	0.00932	-3.654	0.18641	T	0.13993655782441047	0.15617	0.061	0.01428	B	.;.	.;.	0.611860	0.09802	6.568	0.64041821937881915	0.07385	0.01485	0.04937	N	AEFDGBI	0.040336	0.05986	N	-1.29275338961599	0.03762	0.1686211	-1.30793602485554	0.04326	0.2038404	0.39500622044745	0.20080	0.487112	0.14033	0	0.573888	0.26702	0	0.507148	0.09336	0	0.564101	0.26826	0	.	.	6.03	-5.96	0.02047	-0.695000	0.05211	-4.773000	0.01992	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.0896:0.3759:0.0918:0.4427	5.008	0.13642	870	0.31527	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2774.33	34	chr1	216246761	.	C	T	2774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=864;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.429;SOR=0.618	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1328	18	0	1	0
chr1	219609841	219609841	G	A	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.C2222T:p.P741L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227394738	3.831e-05	5.267e-05	3.404e-05	4.264e-05	0.0010	3.026e-05	2.72e-05	0.0008	0.0007	0	4.473e-05	0	0.0010	0	0	6.296e-06	8.282e-05	1.159e-05	9.841e-05	0.0001	0.0001	6.708e-05	0.0025	5.998e-05	4.873e-05	0.0015	0.0012	0	0	6.531e-05	0	0.0025	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4530.83	33	chr1	219609841	.	G	A	4530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.88;DP=2571;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=48.27;MQRankSum=4.13;QD=4.09;ReadPosRankSum=1.65;SOR=0.691	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1543	17	0	2	0
chr1	219958997	219958997	T	C	exonic	SLC30A10	.	nonsynonymous SNV	SLC30A10:NM_001376929:exon1:c.A22G:p.S8G	Hypermanganesemia with dystonia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.28	.	chr1	219958997	.	T	C	42.28	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	1	0	11
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/0:69,0:89:99:0,188,1405	12	0	5	2
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:51,25:81:57:57,0,819	8	0	11	0
chr1	220661955	220661955	A	T	exonic	MARK1	.	nonsynonymous SNV	MARK1:NM_001286128:exon16:c.A2066T:p.D689V,MARK1:NM_001286126:exon17:c.A2132T:p.D711V,MARK1:NM_001286124:exon18:c.A2180T:p.D727V,MARK1:NM_018650:exon18:c.A2177T:p.D726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0427935980584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.19	0.60236	T	-7.84	0.96032	D	0.725	0.80180	-0.0783	0.80591	T	0.435	0.77549	T	10	0.8325881	0.82420	D	0.042794	0.60651	D	0.593	0.83802	0.515	0.61459	0.796667531515	0.79477	0.8498338097789934	0.84945	2.34469087129	0.96774	0.816968083382	0.84563	D	0.133203	0.65542	T	0.321696	0.84590	D	0.224318	0.84389	D	0.997808396816254	0.92464	D	0.992817	0.97631	D	0.91174763	0.92458	0.8717731	0.92989	0.91174763	0.92459	0.8717731	0.92989	-13.224	0.90264	D	.	.	0.905	0.84980	P	.;.;.;.	.;.;.;.	4.807357	0.78165	26.8	0.99420472891736111	0.63742	0.98985	0.89557	D	AEFGBI	0.896029	0.83668	D	0.937202747926658	0.93459	12.05367	0.922425219049642	0.96477	14.74518	0.999999882168978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.16	6.16	0.99302	9.325000	0.96006	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.806	0.85530	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1890.33	33	chr1	220661955	.	A	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.071;DP=789;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.56;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	18	0	1	0
chr1	220787130	220787130	G	C	exonic	MTARC1	.	nonsynonymous SNV	MTARC1:NM_022746:exon1:c.G186C:p.W62C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.362785205848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.157	0.31730	T	0.117	0.26519	B	0.142	0.33681	B	0.111138	0.19413	N	0.444597	0.998372	0.44834	D	2.15	0.60148	M	1.55	0.29866	T	-4.08	0.74742	D	0.312	0.35194	-1.0770	0.07942	T	0.066	0.27225	T	10	0.36707595	0.53185	T	0.362785	0.92553	D	0.144	0.38394	0.734	0.86719	0.170165803431	0.16609	0.8484784232540111	0.84808	0.28682199185	0.31076	0.7751557827	0.78197	T	0.049593	0.28350	T	-0.10793	0.35110	T	-0.392811	0.34223	T	0.239337927848759	0.22389	T	0.784022	0.42156	T	0.55251986	0.70096	0.54680103	0.73801	0.55251986	0.70097	0.54680103	0.73801	-5.847	0.44982	T	.	.	0.354	0.56857	A	.	.	2.679030	0.34943	19.77	0.87675545217483863	0.17399	0.48234	0.28161	N	ALL	0.112844	0.22289	N	-0.40328900409	0.25353	1.375684	-0.327980958516355	0.27198	1.507577	0.999999981478678	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.14	2.16	0.26663	0.335000	0.19546	2.432000	0.32735	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.0:0.3652:0.4956:0.1391	9.448	0.37876	547	0.72440	MOSC, N-terminal beta barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	28	chr1	220787130	.	G	C	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.097;SOR=0.689	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1034	18	0	1	0
chr1	222629343	222629343	C	T	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.C2123T:p.T708I,MIA3:NM_001324063:exon4:c.C2123T:p.T708I,MIA3:NM_198551:exon4:c.C2123T:p.T708I,MIA3:NM_001324064:exon5:c.C1631T:p.T544I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00398614837878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.133	0.34359	T	0.035	0.20614	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	3.68	0.04151	T	-1.18	0.30140	N	0.12	0.11054	-0.9229	0.45155	T	0.010	0.03537	T	9	0.04711473	0.03987	T	0.003986	0.09431	T	0.016	0.02506	0.106	0.01810	0.264547087235	0.26054	0.044694691070665704	0.04413	0.0599564255343	0.06670	0.256598472595	0.04493	T	0.004307	0.03719	T	-0.322401	0.06703	T	-0.700883	0.05777	T	0.0887900310910653	0.11073	T	0.483852	0.14720	T	0.03736358	0.04777	0.033586625	0.02279	0.03736358	0.04777	0.033586625	0.02279	-4.099	0.25275	T	.	.	0.128	0.27403	B	.	.	0.433922	0.08043	4.764	0.80069739699738618	0.13030	0.14118	0.18232	N	AEFBCI	0.054600	0.09940	N	-0.975823311918019	0.09121	0.4304281	-0.989623884788034	0.10017	0.5019194	0.0518658407699046	0.14887	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.79	1.75	0.23707	0.130000	0.15676	-0.379000	0.09554	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2968:0.5404:0.0:0.1628	4.886	0.13058	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1503.33	86	chr1	222629343	.	C	T	1503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=1754;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.851;SOR=0.79	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V,MIA3:NM_001324063:exon4:c.A2500G:p.I834V,MIA3:NM_198551:exon4:c.A2500G:p.I834V,MIA3:NM_001324064:exon5:c.A2008G:p.I670V	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2874.83	39	chr1	222629720	.	A	G	2874.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.789;DP=1254;ExcessHet=0.119;FS=0.457;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.765;SOR=0.649	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1423	17	0	2	0
chr1	223393701	223393701	T	G	exonic	CCDC185	.	nonsynonymous SNV	CCDC185:NM_152610:exon1:c.T226G:p.S76A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00179220895613	.	.	0.0003	0	0	0	0	0	0	0.0019	9.06e-05	14	154602	rs763628133	4.993e-05	5.199e-05	1.812e-05	8.232e-05	0.0009	4.036e-05	3.705e-05	0.0007	0.0006	0	0	0	0	0	0	0	0	0.0009	6.567e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	0.957	0.02568	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.3	0.16953	T	-0.55	0.16799	N	0.059	0.03069	-1.0319	0.19841	T	0.017	0.06759	T	9	0.0054500997	0.00120	T	0.001792	0.03063	T	0.007	0.00512	0.108	0.01928	0.12205267543	0.11705	0.02333443951462832	0.02285	0.110173587776	0.12430	.	.	.	0.019577	0.15574	T	-0.714634	0.00030	T	-0.855646	0.00891	T	0.0198648963727437	0.00688	T	0.156384	0.01374	T	0.029302994	0.02403	0.04339641	0.05390	0.029302994	0.02403	0.04339641	0.05390	-3.817	0.21059	T	.	.	0.077	0.06479	B	.	.	-1.149779	0.00584	0.015	0.39301441528064712	0.02703	0.01054	0.03923	N	AEFDBCIJ	0.024306	0.01484	N	-1.846398885713	0.00441	0.0189811	-1.98407751071806	0.00331	0.01460531	0.999999999494318	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.65	-7.3	0.01298	-2.613000	0.00957	-3.678000	0.02611	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.357:0.1425:0.1055:0.3949	1.113	0.01603	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	349.33	34	chr1	223393701	.	T	G	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=639;ExcessHet=0;FS=5.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.506;SOR=1.343	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1300	18	0	1	0
chr1	223609210	223609210	G	A	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon12:c.C1478T:p.P493L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.06e-06	1.59e-06	0	8.011e-06	6.327e-06	0	0	.	.	0	0	0	0	0	0	6.327e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.54584	.	.	.	.	.	.	.	0.7472601	0.75378	D	.	.	.	.	.	.	.	.	.	0.48073306962169565	0.47993	.	.	.	.	.	0.826633	0.95817	D	.	.	.	.	.	.	.	.	.	0.939006	0.77019	D	.	.	.	.	.	.	.	.	-11.195	0.80717	D	.	.	0.391	0.59080	A	.	.	4.186140	0.63061	24.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.883000	0.85762	9.289000	0.79777	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.156000	0.20513	.	.	.	906	0.23090	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	35	chr1	223609210	.	G	A	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.895;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.76;SOR=0.795	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1408	18	0	1	0
chr1	224681025	224681025	C	T	exonic	CNIH3	.	nonsynonymous SNV	CNIH3:NM_001322303:exon2:c.C167T:p.A56V,CNIH3:NM_001322305:exon2:c.C149T:p.A50V,CNIH3:NM_152495:exon2:c.C149T:p.A50V,CNIH3:NM_001322302:exon3:c.C233T:p.A78V,CNIH3:NM_001322304:exon3:c.C95T:p.A32V	.	430	1091	1	0	0	1	0.000458085	0.9829	0.882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00760038829143	.	.	2.471e-05	0.0002	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs751126399	1.026e-05	1.094e-05	9.533e-06	1.1e-05	8.964e-05	6.16e-06	4.89e-06	2.375e-05	1.43e-05	8.964e-05	2.236e-05	0	2.519e-05	0	0	4.498e-06	0	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.024	0.47745	D	0.212	0.26549	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	1.59	0.40313	L	.	.	.	-0.68	0.19509	N	0.524	0.55366	-0.5047	0.68479	T	0.287	0.65928	T	9	0.4413101	0.58119	T	0.008	0.20166	T	0.221	0.51721	0.509	0.60540	0.345632371893	0.34166	0.862103594920284	0.86174	1.25464454883	0.81874	0.829744815826	0.86523	D	0.120506	0.44280	T	-0.101177	0.36231	T	-0.103675	0.63112	T	0.357976883649826	0.27330	T	0.90281	0.66017	D	0.24508058	0.47463	0.21437652	0.45985	0.24508058	0.47462	0.21437652	0.45984	-3.896	0.22243	T	.	.	0.348	0.56442	A	.	.	5.690647	0.93057	33	0.99904586817909491	0.97576	0.91524	0.53711	D	AEFDBI	0.656614	0.62854	D	0.58246810675608	0.72081	5.749872	0.598452953176326	0.74828	6.20404	0.999998372518875	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	5.177000	0.64870	7.550000	0.60255	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	17.775	0.88415	622	0.65860	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1307.33	43	chr1	224681025	.	C	T	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.777;DP=750;ExcessHet=0;FS=9.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.169;SOR=0.232	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1321,0,1131	18	0	1	0
chr1	224967518	224967518	G	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001349912:exon5:c.G436C:p.V146L,DNAH14:NM_001145154:exon6:c.G586C:p.V196L,DNAH14:NM_001367479:exon6:c.G586C:p.V196L,DNAH14:NM_001367481:exon6:c.G586C:p.V196L,DNAH14:NM_144989:exon6:c.G586C:p.V196L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0867457713979	.	0.00179712	0.0010	0	0	0	0	0	0.0044	0.0068	0.0008473	131	154602	rs559085893	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	3.039e-05	0	0	0	0	0.0003	9.024e-07	0.0004	0.0068	0.0003	0.0003	7.723e-05	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0.0034	0	0	0.0079	0.016	0.91255	D	0.013	0.67890	D	0.999	0.77913	D	0.994	0.88582	D	.	.	.	.	1	0.81001	D	.	.	.	1.66	0.56281	T	-1.44	0.58085	N	0.32	0.75650	-0.9067	0.47250	T	0.178	0.52381	T	8	0.009006321	0.00204	T	0.086746	0.74799	D	0.173	0.43840	0.398	0.42590	0.438913950225	0.43509	0.11657871979120468	0.11585	0.262451403936	0.28804	0.489182949066	0.37325	T	0.010266	0.09286	T	-0.293883	0.09249	T	-0.192307	0.55373	T	0.0765666865606547	0.09542	T	0.683432	0.31518	T	0.19736116	0.41598	0.21815078	0.46507	0.19736116	0.41598	0.21815078	0.46506	-2.716	0.10106	T	.	.	0.730	0.85879	P	.;.;.;.;.;.	.;.;.;.;.;.	3.594155	0.50731	23.0	0.99753883018443712	0.84460	0.92512	0.55885	D	AEFBI	0.656751	0.62863	D	0.301519464002825	0.56226	3.787043	0.368354554999313	0.59622	4.141503	0.77729315605846	0.23774	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.63	5.63	0.86108	4.447000	0.59762	9.278000	0.79691	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.655000	0.32830	0.0:0.0:1.0:0.0	16.579	0.84561	753	0.51500	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	1523.33	33	chr1	224967518	.	G	C	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.271;SOR=0.645	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1467	18	0	1	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2056.29	48	chr1	225085607	.	GA	G	2056.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.829;DP=920;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.203;SOR=0.752	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr1	225240660	225240660	G	A	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon43:c.G6586A:p.V2196M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.0915065435853	.	0.000998403	0.0003	0	0.0024	0	0	0.0007	0	0	0.0001358	21	154602	rs184912210	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	9.501e-05	0.0005	0.0002	5.616e-05	6.092e-05	0	0.0004	0.0006	0.0005	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	7.221e-05	0	0.0007	0	0	0.0003	0.0034	0.0005	0.0009	0.0006	0.017	0.59928	D	0.002	0.83351	D	0.998	0.73220	D	0.943	0.67921	D	.	.	.	.	0.999772	0.20412	N	2.045	0.56016	M	-2.5	0.89219	D	-2.29	0.55181	N	0.251	0.38438	0.397	0.89057	D	0.722	0.90488	D	9	0.02581042	0.00764	T	0.091507	0.75720	D	0.493	0.77910	.	.	0.607509035438	0.60436	.	.	.	.	0.773482322693	0.77945	T	0.015401	0.12927	T	-0.167396	0.25630	T	-0.124196	0.61457	T	0.0825229957435065	0.10307	T	0.605039	0.24270	T	0.13386692	0.31121	0.2407002	0.49450	0.13386692	0.31121	0.2407002	0.49449	-5.975	0.46070	T	.	.	0.338	0.55801	B	.;.;.	.;.;.	2.820628	0.37159	20.4	0.99886004126903216	0.96126	0.74880	0.36642	D	AEFI	0.206785	0.33302	N	0.370860029473469	0.59848	4.167881	0.319770476167829	0.56704	3.833984	1.45710011164902E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	3.93	0.44666	2.971000	0.48940	3.366000	0.37896	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.224:0.0:0.776:0.0	9.819	0.40037	605	0.67457	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001247	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	277.33	33	chr1	225240660	.	G	A	277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=686;ExcessHet=0;FS=2.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=1.32;SOR=1.103	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr1	225271985	225271985	C	T	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon51:c.C7751T:p.S2584F	.	.	.	.	.	.	.	.	.	.	.	2197577	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0619419502729	.	.	0.0001	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs569630401	0.0003	0.0003	0.0003	0.0003	0.0028	0.0003	0.0002	0.0018	0.0014	6.334e-05	0.0001	0	0	0	0.0028	0.0003	0.0001	0.0004	7.225e-05	7.219e-05	0.0001	4.03e-05	0.0002	3.97e-05	3.126e-05	4.766e-05	3.34e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.005	0.63226	D	0.003	0.76473	D	0.997	0.70673	D	0.943	0.67921	D	.	.	.	.	1	0.20887	N	.	.	.	0.96	0.42888	T	-4.13	0.75139	D	0.355	0.45520	-0.8998	0.48014	T	0.191	0.54345	T	8	0.31261435	0.48720	T	0.061942	0.68494	D	0.075	0.21907	.	.	0.450831855234	0.44704	.	.	.	.	0.525341153145	0.42379	T	.	.	.	-0.442364	0.01252	T	-0.577009	0.14813	T	0.405397402881497	0.29145	T	0.508649	0.16166	T	.	.	.	.	.	.	.	.	-9.151	0.68664	D	.	.	.	.	.	.;.	.;.	2.395498	0.30769	18.54	0.99758066777162491	0.84851	0.13620	0.17958	N	AEFI	0.115143	0.22652	N	-0.132526208299208	0.35980	2.073743	-0.275974899743546	0.28892	1.614427	2.90055065952882E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	3.68	0.41359	1.319000	0.33260	0.558000	0.19484	-0.266000	0.06809	0.028000	0.20300	0.075000	0.22287	0.072000	0.16771	0.0:0.7081:0.2919:0.0	13.871	0.63119	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004658	0.000000	0.012195	0.009804	0.000000	0.000000	0.000000	0.000000	0.02632	1774.33	33	chr1	225271985	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=793;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.851;SOR=0.76	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	225353859	225353862	AAAC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11590_11593del:p.K3864Sfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.874e-06	4.655e-05	7.26e-06	4.456e-06	7.615e-06	2.53e-06	1.83e-06	3.28e-06	2.37e-06	0	0	0	0	0	0	7.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	110.79	33	chr1	225353858	.	GAAAC	G	110.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.34;DP=753;ExcessHet=0.119;FS=87.185;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.49;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,114,1524:.	17	0	2	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	G	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,114,1524:.	16	0	2	1
chr1	225353860	225353860	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	*	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,114,1524:.	16	0	2	1
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	869.52	36	chr1	225353861	.	A	*	869.52	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.045;DP=1063;ExcessHet=2.0135;FS=206.778;InbreedingCoeff=-0.3117;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=0.977;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:48:.:.:0,48,1125:.	11	0	2	6
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	1172.62	36	chr1	225353862	.	C	G	1172.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:29:.:.:0,29,839:.	14	0	2	3
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.62	36	chr1	225353862	.	C	CGGGG	1172.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:29:.:.:0,29,839:.	12	0	4	3
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y	.	446	1055	19	2	0	23	0.0107829	.	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005063	0.000000	0.000000	0.013514	0.083333	0.000000	0.000000	0.013514	0.02632	1138.33	41	chr1	225399269	.	A	T	1138.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.172;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.083;SOR=0.786	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	371.5	33	chr1	225514708	.	G	A	371.5	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-2.545;DP=1500;ExcessHet=0.3672;FS=220.131;InbreedingCoeff=-0.243;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=-0.256;SOR=11.083	GT:AD:DP:GQ:PL	0/0:44,0:44:19:0,19,777	9	0	3	7
chr1	225831806	225831806	C	T	exonic	EPHX1	.	nonsynonymous SNV	EPHX1:NM_000120:exon3:c.C211T:p.R71C,EPHX1:NM_001136018:exon3:c.C211T:p.R71C,EPHX1:NM_001291163:exon3:c.C211T:p.R71C,EPHX1:NM_001378427:exon3:c.C211T:p.R71C,EPHX1:NM_001378428:exon3:c.C184T:p.R62C,EPHX1:NM_001378429:exon3:c.C211T:p.R71C,EPHX1:NM_001378430:exon3:c.C211T:p.R71C,EPHX1:NM_001378431:exon3:c.C211T:p.R71C,EPHX1:NM_001378432:exon3:c.C211T:p.R71C,EPHX1:NM_001378426:exon4:c.C211T:p.R71C	Diphenylhydantoin toxicity (1);Hypercholanemia, familial	2	1514	5	1	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.214176623594	7.7e-05	.	0.0002	9.612e-05	0	0.0001	0	0.0003	0	0	0.0002199	34	154602	rs148240980	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.987e-05	0.0001	0.0003	2.519e-05	3.744e-05	0.0002	0.0003	0.0002	5.797e-05	0.0001	0.0001	0.0002	9.42e-05	0.0002	9.153e-05	7.707e-05	0.0001	9.898e-05	4.826e-05	0	6.551e-05	0.0012	0	0	0	0.0002	0	0	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.12	0.97420	H	3.42	0.05507	T	-6.96	0.93509	D	0.871	0.86833	-0.6766	0.61529	T	0.120	0.41821	T	10	0.7081895	0.72873	D	0.214177	0.87444	D	0.346	0.66769	.	.	0.611786747218	0.60866	0.8823373758572228	0.88201	0.897491480537	0.70508	0.434090971947	0.29768	T	0.451088	0.79195	T	-0.0195844	0.48914	T	0.0600332	0.74248	D	0.887440621852875	0.53793	D	0.970903	0.91743	D	0.79896	0.83838	0.4412409	0.67415	0.79896	0.83840	0.4412409	0.67415	-9.895	0.73280	D	.	.	0.228	0.53633	B	.;.;.;.;.	.;.;.;.;.	5.310542	0.89146	29.9	0.99930008885295207	0.99334	0.97598	0.75804	D	AEFDBI	0.871856	0.79345	D	0.764968967382165	0.83874	8.133622	0.593981375821115	0.74506	6.148798	0.999952925869385	0.48110	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	3.780000	0.55092	7.385000	0.58477	0.526000	0.24426	0.998000	0.41325	1.000000	0.68203	0.670000	0.33251	0.2062:0.7938:0.0:0.0	15.106	0.71992	614	0.66605	Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal;Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	921.33	33	chr1	225831806	.	C	T	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=725;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.82;SOR=0.969	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1313	18	0	1	0
chr1	225853676	225853676	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon19:c.C1750T:p.R584C	.	419	1094	9	0	0	9	0.0040965	.	.	.	3192478	TMEM63A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.728	0.0492004327872	0.0014	0.000798722	0.0016	0.0024	0.0072	0	0.0019	0.0018	0	0.0006	0.0008409	130	154602	rs75188792	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0007	0.0051	0.0045	0.0015	0.0020	3.935e-05	5.208e-05	1.953e-05	0.0068	0.0007	0.0015	0.0004	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0012	0.0012	0.0186	0.0019	0	0	0.0002	0.0102	0.0008	0.0076	0.0012	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	1.41	0.33412	T	-7.32	0.94537	D	0.967	0.97750	-0.5051	0.68464	T	0.253	0.62337	T	10	0.07900062	0.12657	T	0.049	0.63711	D	0.728	0.90457	.	.	0.570020700114	0.56667	0.7869320622264573	0.78645	0.885137563501	0.69946	0.572756648064	0.49067	T	0.147636	0.48582	T	-0.0194096	0.48938	T	0.192867	0.82732	D	0.0798766800261202	0.09970	T	0.969303	0.88939	D	0.8484633	0.87222	0.759123	0.85767	0.8484633	0.87224	0.759123	0.85768	-9.409	0.70291	D	0.7017525084487362	0.78081	0.224	0.45605	B	.	.	5.814432	0.93670	33	0.99947735947656613	0.99923	0.99812	0.99628	D	AEFDBI	0.923388	0.89980	D	0.96605212451979	0.94601	12.88682	0.920471841969732	0.96404	14.65616	0.999999999999858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.45	5.45	0.79688	9.858000	0.98409	11.332000	0.92542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.288	0.94071	724	0.55085	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012158	0.046392	0.017663	0.005917	0.000000	0.017241	0.003067	0.007634	0.02632	1025.33	34	chr1	225853676	.	G	A	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=757;ExcessHet=0;FS=3.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.955;SOR=0.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	18	0	1	0
chr1	225859264	225859264	T	C	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon15:c.A1309G:p.T437A	.	428	1082	12	0	0	12	0.00551471	.	.	.	1709657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.364	0.0165538578836	0.0004	0.000399361	0.0008	0	0.0002	0	0.0015	0.0008	0	0.0016	0.0006662	103	154602	rs149848059	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	8.961e-05	0.0002	0.0040	0	0.0017	0.0033	0.0005	0.0009	0.0016	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0004	0.0007	0.0005	2.411e-05	0	0.0003	0.0043	0	0.0010	0	0.0006	0.0019	0.0015	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	1.57	0.29342	T	-4.88	0.81350	D	0.741	0.74098	-0.6026	0.64710	T	0.236	0.60355	T	10	0.04238665	0.02983	T	0.016554	0.37860	T	0.364	0.68407	.	.	0.397838977388	0.39401	0.8697822686528869	0.86943	0.745040649288	0.63462	0.623672246933	0.56247	T	0.094788	0.39487	T	-0.200704	0.20704	T	-0.0743041	0.65318	T	0.0936489957348904	0.11644	T	0.999883	0.99972	D	0.80730873	0.84377	0.68790513	0.81642	0.80730873	0.84378	0.68790513	0.81643	-11.597	0.82832	D	0.5821562219136742	0.64898	0.691	0.72585	P	.	.	4.614181	0.73203	26.0	0.99811349838816488	0.89531	0.97909	0.78046	D	AEFBI	0.691830	0.65170	D	0.739429626177363	0.82215	7.707942	0.68285554828568	0.81080	7.443284	0.999174914721863	0.38651	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.883000	0.69466	7.645000	0.63394	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.121	0.72119	749	0.51929	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05263	5557.83	39	chr1	225859264	.	T	C	5557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=1197;ExcessHet=0.119;FS=1.107;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.488;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,105,1575:.	17	0	2	0
chr1	225887053	225887053	C	T	exonic	LEFTY1	.	nonsynonymous SNV	LEFTY1:NM_020997:exon4:c.G775A:p.E259K	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0006	0.0207668	0.0128	0.0001	0.0423	0.0561	0.0063	0.0011	0.0067	0.0269	0.0110865	1714	154602	rs139440539	0.0045	0.0045	0.0042	0.0047	0.0506	0.0044	0.0043	0.0488	0.0480	0.0003	0.0401	0.0096	0.0506	0.0046	0.0020	0.0002	0.0055	0.0205	0.0062	0.0062	0.0050	0.0074	0.0534	0.0058	0.0057	0.0482	0.0462	0.0005	0	0.0252	0.0109	0.0534	0.0063	0	0.0003	0.0085	0.0237	0.312	0.13925	T	0.39	0.15506	T	0.022	0.18677	B	0.004	0.10090	B	0.105156	0.19671	N	0.592800	1	0.08975	N	0.55	0.14455	N	-0.42	0.69536	T	-0.39	0.13611	N	0.026	0.00527	-1.0812	0.07118	T	0.027	0.11485	T	10	0.0019119382	0.00026	T	.	.	.	0.037	0.09474	.	.	.	.	0.4865087241018139	0.48570	0.151744481588	0.17126	0.341372728348	0.16644	T	0.067401	0.33193	T	-0.457037	0.01025	T	-0.37743	0.36023	T	0.0230047872861298	0.01024	T	0.80202	0.44827	T	0.11828133	0.27871	0.07960381	0.17936	0.11828133	0.27871	0.07960381	0.17936	-4.462	0.30388	T	.	.	0.066	0.02228	B	.	.	1.275105	0.16744	12.74	0.95747888485610688	0.27715	0.15028	0.18708	N	AEFDBI	0.094474	0.19102	N	-0.943973399643489	0.09828	0.4669095	-0.913221785166412	0.11782	0.6023175	0.999952776522489	0.48110	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.14	0.865	0.18211	0.698000	0.25249	-1.579000	0.05130	0.549000	0.26987	0.060000	0.21767	0.000000	0.08366	0.078000	0.17132	0.0:0.4741:0.4426:0.0833	8.754	0.33792	741	0.52966	Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004090	0.000000	0.000000	0.000000	0.000000	0.000000	0.006329	0.015152	0.02632	1983.33	43	chr1	225887053	.	C	T	1983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=991;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-0.193;QD=12.32;ReadPosRankSum=0.694;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	18	0	1	0
chr1	225937506	225937506	T	G	exonic	LEFTY2	.	nonsynonymous SNV	LEFTY2:NM_003240:exon4:c.A1036C:p.M346L,LEFTY2:NM_001172425:exon5:c.A934C:p.M312L	Left-right axis malformations (3)	.	.	.	.	.	.	.	.	.	.	391077	Left-right_axis_malformations	MedGen:C1866091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0354114288825	.	.	4.15e-05	0	8.655e-05	0	0	1.513e-05	0	0.0002	3.88e-05	6	154602	rs747778361	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0002	2.566e-05	2.312e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0.0002	2.878e-05	3.313e-05	0.0002	2.629e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.543e-05	0	0	0	0	2.941e-05	0	0.0002	0.048	0.40832	D	0.0	0.92824	D	0.018	0.17786	B	0.038	0.23361	B	0.000000	0.84330	N	0.036152	0.999857	0.49910	D	2.595	0.75868	M	-0.11	0.64445	T	-2.72	0.58407	D	0.466	0.50237	-0.5341	0.67386	T	0.299	0.67073	T	10	0.3315641	0.50377	T	0.035411	0.56324	D	0.347	0.66863	0.879	0.96784	0.722692856958	0.72024	0.8744640623235156	0.87412	0.222391966033	0.24772	0.415165662766	0.27171	T	0.93028	0.98816	D	-0.218011	0.18265	T	-0.258786	0.48947	T	0.251825202531831	0.22954	T	0.69753	0.31713	T	0.6101609	0.73236	0.5430241	0.73587	0.6101609	0.73237	0.5430241	0.73587	-8.559	0.65280	D	0.6318707248111379	0.70138	0.210	0.43721	B	.;.	.;.	2.602021	0.33775	19.44	0.96371337658731981	0.29587	0.93870	0.59429	D	AEFBI	0.508235	0.53821	D	0.047453337572371	0.44024	2.684194	0.122943460610794	0.45726	2.830598	0.887881026316582	0.25776	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.21	4.05	0.46415	3.971000	0.56538	2.219000	0.31434	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.1683:0.8317	11.091	0.47333	769	0.49307	.;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2570.33	36	chr1	225937506	.	T	G	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.22;DP=835;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.323;SOR=0.58	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1442	18	0	1	0
chr1	225937535	225937535	G	C	exonic	LEFTY2	.	nonsynonymous SNV	LEFTY2:NM_003240:exon4:c.C1007G:p.T336S,LEFTY2:NM_001172425:exon5:c.C905G:p.T302S	Left-right axis malformations (3)	.	.	.	.	.	.	.	.	.	.	390969	Left-right_axis_malformations	MedGen:C1866091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0184632705178	.	.	4.151e-05	0	8.657e-05	0	0	1.514e-05	0	0.0002	3.88e-05	6	154602	rs749823804	3.421e-05	3.42e-05	3.403e-05	3.438e-05	0.0002	2.632e-05	2.375e-05	8.886e-05	7.054e-05	0	2.236e-05	0	0	0	0.0002	2.968e-05	3.312e-05	0.0002	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0002	0.033	0.46513	D	0.697	0.05882	T	0.125	0.26866	B	0.129	0.32841	B	0.001834	0.37892	N	0.318910	0.959471	0.38129	D	2.305	0.65957	M	-0.16	0.70133	T	-2.41	0.52938	N	0.096	0.07673	-0.8224	0.53784	T	0.247	0.61600	T	10	0.14570099	0.27635	T	0.018463	0.40531	T	0.156	0.40720	0.729	0.86286	0.733523360191	0.73115	0.6714179397965077	0.67079	0.261197806998	0.28672	0.286628901958	0.08434	T	0.732179	0.92513	D	-0.373665	0.03412	T	-0.482371	0.24193	T	0.129980857896091	0.15380	T	0.388561	0.09605	T	0.2113378	0.43456	0.15108806	0.35605	0.2113378	0.43456	0.15108806	0.35604	-3.904	0.22362	T	0.4593647306156946	0.54180	0.095	0.15475	B	.;.	.;.	1.606107	0.20528	14.79	0.97545293637975927	0.34534	0.92677	0.56277	D	AEFBI	0.355547	0.44724	N	-0.309842422495413	0.28774	1.589887	-0.292584371958856	0.28342	1.579574	0.0155589440489255	0.12727	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.21	0.418	0.15647	2.726000	0.46973	0.045000	0.13922	0.590000	0.31872	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.2618:0.0:0.6038:0.1344	5.374	0.15456	769	0.49307	.;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2425.33	36	chr1	225937535	.	G	C	2425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=809;ExcessHet=0;FS=1.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.799;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1442	18	0	1	0
chr1	226233456	226233456	T	G	exonic	LIN9	.	nonsynonymous SNV	LIN9:NM_001366240:exon11:c.A1034C:p.E345A,LIN9:NM_001270409:exon12:c.A1256C:p.E419A,LIN9:NM_001366237:exon12:c.A1280C:p.E427A,LIN9:NM_001366239:exon12:c.A1259C:p.E420A,LIN9:NM_001270410:exon13:c.A1157C:p.E386A,LIN9:NM_001366238:exon13:c.A1358C:p.E453A,LIN9:NM_001366241:exon13:c.A1157C:p.E386A,LIN9:NM_001366245:exon13:c.A1313C:p.E438A,LIN9:NM_173083:exon13:c.A1361C:p.E454A	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.005937382406	0.0059	0.00159744	0.0048	0.0011	0.0012	0	0.0033	0.0077	0.0066	0.0012	0.004987	771	154602	rs138510303	0.0078	0.0078	0.0080	0.0076	0.0094	0.0076	0.0076	0.0093	0.0092	0.0011	0.0017	0.0010	0	0.0039	0.0012	0.0094	0.0064	0.0016	0.0048	0.0048	0.0053	0.0042	0.0082	0.0045	0.0044	0.0076	0.0074	0.0017	0.0033	0.0035	0.0006	0.0002	0.0030	0	0.0082	0.0033	0.0014	0.009	0.57480	D	0.047	0.49663	D	0.954	0.54400	P	0.638	0.52030	P	0.000000	0.84330	D	0.091400	1	0.81001	D	.	.	.	.	.	.	-3.82	0.73151	D	0.491	0.56576	-0.6525	0.62605	T	0.198	0.55272	T	9	0.009174824	0.00207	T	0.005937	0.15490	T	0.573	0.82686	.	.	0.171220215726	0.16700	0.5512695888489655	0.55052	1.05308525132	0.76224	0.651935577393	0.60260	T	0.069884	0.35688	T	-0.267678	0.12016	T	-0.149316	0.59305	T	0.0154248972218012	0.00346	T	0.953405	0.82184	D	.	.	.	.	.	.	.	.	-4.235	0.27255	T	.	.	0.265	0.49931	B	.;.;.;.	.;.;.;.	3.987654	0.58662	24.0	0.99557816723385295	0.71583	0.94427	0.61130	D	ALL	0.856448	0.77369	D	0.473255866481619	0.65534	4.834584	0.542044414370088	0.70845	5.565564	0.999999999999993	0.74766	0.732398	0.92422	0	0.68618	0.66647	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.356000	0.78699	7.739000	0.67979	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.666	0.76982	610	0.67008	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	673.33	40	chr1	226233456	.	T	G	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=713;ExcessHet=0;FS=2.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.331;SOR=1.001	GT:AD:DP:GQ:PL	0/1:35,29:64:99:687,0,795	18	0	1	0
chr1	226388745	226388745	C	T	exonic	PARP1	.	nonsynonymous SNV	PARP1:NM_001618:exon5:c.G628A:p.G210S	.	0	1520	2	0	0	2	0.000657462	.	.	.	4002053	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00586786253335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946326508	4.79e-06	6.156e-06	2.724e-06	6.877e-06	7.557e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	6.625e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.527	0.10209	T	0.019	0.17989	B	0.009	0.14300	B	0.001600	0.38554	N	0.279795	0.990006	0.41067	D	2.24	0.63355	M	1.57	0.29342	T	-1.01	0.26639	N	0.167	0.17691	-1.0788	0.07582	T	0.077	0.30951	T	10	0.12013969	0.22750	T	0.005868	0.15281	T	0.029	0.06676	0.18	0.08751	0.678578911575	0.67584	0.21535744110823998	0.21451	0.219231293744	0.24462	0.399352431297	0.24978	T	0.081	0.36448	T	-0.310916	0.07669	T	-0.515257	0.20776	T	0.4777951836586	0.31817	T	0.787421	0.42665	T	0.11599863	0.27365	0.08035472	0.18171	0.11599863	0.27365	0.08035472	0.18170	-2.562	0.06220	T	.	.	0.097	0.15788	B	.	.	2.411880	0.30999	18.61	0.99433499348368193	0.64374	0.80751	0.40309	D	AEFDBI	0.184399	0.31172	N	-0.157162795680301	0.34930	2.000065	-0.0193655393607283	0.38841	2.294186	0.999975953222712	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	4.41	0.52588	1.950000	0.39948	2.187000	0.31177	0.599000	0.40250	0.940000	0.32642	0.999000	0.35428	0.976000	0.56436	0.1468:0.8532:0.0:0.0	14.583	0.67899	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1336.33	35	chr1	226388745	.	C	T	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=817;ExcessHet=0;FS=2.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.879;SOR=0.954	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr1	226736078	226736078	G	A	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1381T:p.P461S	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0058520548027	0.0038	0.00199681	0.0042	0.0009	0.0029	0	0.0076	0.0057	0.0046	0.0018	0.0041785	646	154602	rs35823273	0.0057	0.0057	0.0059	0.0055	0.0066	0.0056	0.0055	0.0065	0.0064	0.0007	0.0038	0.0005	0	0.0063	0.0036	0.0066	0.0047	0.0013	0.0039	0.0040	0.0040	0.0039	0.0056	0.0037	0.0036	0.0052	0.0050	0.0014	0	0.0048	0	0	0.0059	0.0102	0.0056	0.0076	0.0012	0.006	0.61437	D	0.159	0.31527	T	0.004	0.12183	B	0.001	0.04355	B	0.605134	0.05669	N	1.218330	1	0.08975	N	1.59	0.40313	L	1.91	0.23884	T	-1.1	0.45949	N	0.085	0.09772	-1.0086	0.27354	T	0.030	0.13111	T	10	0.0029485524	0.00048	T	0.005852	0.15221	T	0.010	0.01040	.	.	0.15499578495	0.15088	0.1655494960861756	0.16474	0.220717340205	0.24616	0.3121702075	0.12234	T	0.10461	0.41432	T	-0.656521	0.00066	T	-0.711818	0.05202	T	0.00888768240221218	0.00110	T	0.715028	0.32735	T	0.037487682	0.04815	0.039302062	0.03991	0.037487682	0.04814	0.039302062	0.03991	-3.887	0.22107	T	.	.	0.098	0.26169	B	.;.;.	.;.;.	0.456012	0.08259	5.002	0.87226867123142804	0.17077	0.13638	0.17968	N	AEFDBCI	0.057724	0.10777	N	-1.12461960622711	0.06208	0.2851443	-1.11758231121098	0.07364	0.3579239	0.999969596572789	0.48965	0.627647	0.40530	0	0.672317	0.65289	0	0.654045	0.52621	0	0.635551	0.53088	0	.	.	5.07	2.12	0.26372	0.760000	0.26140	1.791000	0.28799	-0.250000	0.07158	0.026000	0.20160	0.024000	0.20971	0.061000	0.16044	0.1848:0.1667:0.6485:0.0	5.365	0.15413	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	3396.33	82	chr1	226736078	.	G	A	3396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.864;DP=1607;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.12;SOR=0.699	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr1	226736288	226736288	T	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.A1171G:p.K391E	.	414	1100	7	1	0	9	0.00407424	.	.	.	2393870	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00264702403801	.	0.000399361	0.0002	0	8.693e-05	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs569859868	6.69e-05	6.909e-05	4.938e-05	8.462e-05	0.0006	5.607e-05	5.195e-05	0.0005	0.0004	0	9.457e-05	0	5.048e-05	0	0.0004	2.709e-05	0.0001	0.0006	5.25e-05	5.249e-05	0	0.0001	0.0010	2.554e-05	1.828e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.41e-05	0	0.0010	0.757	0.05214	T	1.0	0.03286	T	0.0	0.02946	B	0.0	0.01387	B	0.311020	0.04015	N	1.449680	1	0.08975	N	-0.55	0.02420	N	1.96	0.23082	T	0.01	0.13611	N	0.014	0.00825	-1.0138	0.25720	T	0.021	0.08824	T	10	0.00960806	0.00216	T	0.002647	0.05406	T	0.011	0.01250	0.306	0.27646	0.260580752073	0.25663	0.07987637907614702	0.07922	0.273909488683	0.29889	0.26229763031	0.05166	T	0.031555	0.22093	T	-0.676178	0.00051	T	-0.844897	0.01028	T	0.0213337987040435	0.00836	T	0.390061	0.09662	T	0.045435708	0.07435	0.050167084	0.07818	0.045435708	0.07434	0.050167084	0.07817	-2.833	0.09153	T	.	.	0.065	0.17953	B	.;.;.	.;.;.	-1.747579	0.00176	0.003	0.63055404475333732	0.07123	0.00869	0.03447	N	AEFDBHCIJ	0.038723	0.05520	N	-1.94687670467179	0.00274	0.01176996	-2.01773183684792	0.00281	0.01239709	0.999999999885092	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.8	-9.6	0.00464	-6.125000	0.00097	-5.452000	0.01713	-0.252000	0.07121	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.0:0.1701:0.2059:0.624	8.983	0.35136	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	550.33	78	chr1	226736288	.	T	C	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=1221;ExcessHet=0;FS=3.319;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-1.792;SOR=0.81	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	1589.33	78	chr1	226736432	.	C	T	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=1246;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.905;SOR=0.886	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr1	226965060	226965060	C	T	exonic	COQ8A	.	nonsynonymous SNV	COQ8A:NM_020247:exon3:c.C238T:p.H80Y	Coenzyme Q10 deficiency, primary, 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	210625	not_specified|Autosomal_recessive_cerebellar_ataxia|Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172|MONDO:MONDO:0012784,MedGen:C2677589,OMIM:612016,Orphanet:139485|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0003	0.0155751	0.0064	0.0002	0.0003	0.0500	0.0002	0.0001	0.0044	0.0199	0.0059184	915	154602	rs76249490	0.0023	0.0023	0.0019	0.0028	0.0360	0.0023	0.0022	0.0344	0.0338	5.974e-05	0.0002	0.0009	0.0360	7.52e-05	0.0017	5.755e-05	0.0040	0.0189	0.0025	0.0025	0.0020	0.0030	0.0465	0.0023	0.0022	0.0417	0.0398	0.0002	0	0.0003	0.0003	0.0465	0.0002	0	0.0003	0.0005	0.0207	0.035	0.43708	D	0.037	0.51737	D	0.229	0.30546	B	0.04	0.23831	B	0.941923	0.07600	N	1.024330	1	0.81001	D	.	.	.	-0.63	0.72125	T	-0.79	0.21860	N	0.096	0.13769	-1.0365	0.18388	T	0.054	0.22921	T	10	0.0029934943	0.00049	T	.	.	.	0.085	0.24743	.	.	0.571278246138	0.56794	0.19955899363814011	0.19872	0.0486578419569	0.05315	0.415837943554	0.27263	T	0.096121	0.39761	T	-0.413404	0.01887	T	-0.323346	0.42207	T	0.0150100122014209	0.00323	T	0.454055	0.12934	T	0.03752782	0.04827	0.0489188	0.07368	0.038811993	0.05240	0.04521349	0.06035	-4.384	0.29339	T	.	.	0.083	0.10111	B	.;.;.	.;.;.	1.469835	0.18935	14.00	0.98305064410384635	0.40087	0.87445	0.46987	D	AEFDBI	0.201247	0.32792	N	-0.569213541793746	0.19885	1.044209	-0.497482184069485	0.22223	1.206009	0.996259553940641	0.34624	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.44	4.52	0.54797	1.753000	0.37987	1.394000	0.26140	0.596000	0.33519	1.000000	0.71638	0.744000	0.26502	0.304000	0.24594	0.263:0.6552:0.0:0.0817	7.233	0.25230	767	0.49651	UbiB domain, ADCK3-like;.;UbiB domain, ADCK3-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1487.33	35	chr1	226965060	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.097;DP=740;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-2.32;SOR=0.917	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	227031375	227031375	C	T	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_001366010:exon26:c.G3509A:p.R1170H,CDC42BPA:NM_014826:exon26:c.G3350A:p.R1117H,CDC42BPA:NM_001366011:exon27:c.G3533A:p.R1178H,CDC42BPA:NM_003607:exon27:c.G3593A:p.R1198H,CDC42BPA:NM_001366019:exon28:c.G3632A:p.R1211H	.	438	1078	6	0	0	6	0.00277521	.	.	.	707145	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.252	.	0.0003	0.0155751	0.0066	0.0003	0.0003	0.0498	0.0002	0.0001	0.0044	0.0216	0.006106	944	154602	rs961490	0.0025	0.0025	0.0020	0.0029	0.0364	0.0024	0.0024	0.0349	0.0342	0.0002	0.0002	0.0009	0.0364	7.488e-05	0.0021	7.734e-05	0.0039	0.0205	0.0025	0.0026	0.0020	0.0031	0.0465	0.0023	0.0023	0.0417	0.0399	0.0002	0	0.0003	0.0003	0.0465	0.0002	0	0.0003	0.0005	0.0221	0.016	0.51853	D	0.079	0.43344	T	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-0.28	0.67874	T	-2.8	0.59226	D	0.643	0.68950	-0.3876	0.72417	T	0.201	0.55780	T	10	0.0048368573	0.00103	T	.	.	.	0.252	0.56159	.	.	0.546180371755	0.54274	0.5350717538373607	0.53432	0.42903078364	0.43204	0.626663446426	0.56672	T	0.353539	0.72081	T	-0.23267	0.16296	T	-0.0652552	0.65962	T	0.0349644746636233	0.02802	T	0.873013	0.58433	D	0.17271042	0.37977	0.15154359	0.35692	0.17271042	0.37977	0.15154359	0.35691	-4.499	0.30876	T	.	.	0.114	0.39134	B	.;.;.;.;.	.;.;.;.;.	4.576209	0.72255	25.8	0.99862649177561869	0.94093	0.96908	0.71597	D	AEFGBI	0.762139	0.69964	D	0.56326960155134	0.70895	5.569006	0.626536758454704	0.76872	6.572001	0.999997919891082	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.161000	0.71682	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.858	0.96769	720	0.55521	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1107.33	37	chr1	227031375	.	C	T	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=720;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.058;SOR=0.504	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr1	227735494	227735494	C	T	exonic	SNAP47	.	nonsynonymous SNV	SNAP47:NM_001323935:exon1:c.C85T:p.P29S,SNAP47:NM_053052:exon1:c.C85T:p.P29S	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0024	0.0227636	0.0240	0.0243	0.0029	0.0491	0.0721	0.0024	0.0490	0.1283	0.0064941	1004	154602	rs114487068	0.0040	0.0042	0.0031	0.0050	0.0495	0.0039	0.0039	0.0480	0.0474	0.0143	0.0019	0.0012	0.0204	0.0184	0.0042	0.0002	0.0072	0.0495	0.0086	0.0086	0.0071	0.0102	0.0557	0.0082	0.0081	0.0502	0.0481	0.0147	0	0.0016	0.0032	0.0237	0.0186	0	0.0009	0.0066	0.0557	1.0	0.05167	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.068338	0.02221	U	3.117940	1	0.08975	N	0	0.06538	N	2.09	0.20122	T	0.42	0.03352	N	0.068	0.04072	-1.0362	0.18481	T	0.013	0.05129	T	10	0.0022320151	0.00032	T	.	.	.	0.020	0.03691	.	.	.	.	0.1853827327147146	0.18456	0.0487339974867	0.05321	0.364365309477	0.20020	T	0.002024	0.01432	T	-0.645648	0.00077	T	-0.649947	0.08957	T	0.000555854429736628	0.00005	T	0.367463	0.08589	T	0.019588195	0.00493	0.043252382	0.05338	0.019588195	0.00492	0.043252382	0.05338	-3.109	0.11399	T	.	.	0.079	0.07507	B	.;.	.;.	0.409586	0.07807	4.496	0.90792188084513104	0.20041	0.02341	0.06690	N	ALL	0.017928	0.00505	N	-1.56898261464751	0.01427	0.06222301	-1.61461708748756	0.01569	0.07112816	0.999999999999896	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.49	-0.938	0.09882	-1.244000	0.03013	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1707:0.5185:0.1817:0.1291	2.620	0.04616	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004154	0.000000	0.002747	0.003145	0.000000	0.000000	0.000000	0.026923	0.02632	912.33	36	chr1	227735494	.	C	T	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.217;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.212;SOR=0.85	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1194	18	0	1	0
chr1	227816191	227816191	G	A	exonic	PRSS38	.	nonsynonymous SNV	PRSS38:NM_001374657:exon2:c.G250A:p.V84I,PRSS38:NM_183062:exon2:c.G250A:p.V84I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0375784614529	.	.	1.665e-05	0	0	0	0	1.52e-05	0	6.07e-05	1.29e-05	2	154602	rs188432918	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	0	0.0002	1.169e-05	1.656e-05	2.319e-05	6.567e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.922	0.02855	T	0.045	0.21781	B	0.016	0.17743	B	0.800378	0.09328	N	0.878207	1	0.08975	N	-0.625	0.02162	N	-2.37	0.88220	D	0.44	0.03243	N	0.055	0.02658	-0.6821	0.61275	T	0.286	0.65802	T	10	0.12775537	0.24297	T	0.037578	0.57701	D	0.182	0.45420	.	.	0.435043484731	0.43121	0.08961844952859407	0.08894	0.0501893739113	0.05505	0.313265144825	0.12401	T	0.04012	0.25420	T	-0.207282	0.19763	T	-0.438668	0.28958	T	0.0564160225727227	0.06591	T	0.516848	0.16688	T	0.03847309	0.05131	0.036075618	0.02983	0.03847309	0.05130	0.036075618	0.02983	-2.434	0.05346	T	.	.	0.077	0.06617	B	.	.	-1.626184	0.00227	0.003	0.5474027744689054	0.05198	0.00175	0.01031	N	AEFDBI	0.017532	0.00466	N	-1.72610739612194	0.00753	0.03252521	-1.7602329999907	0.00895	0.04002984	0.0959839688687745	0.16240	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	-6.33	0.01814	-4.305000	0.00292	.	.	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.5673:0.0:0.3205:0.1122	6.742	0.22626	711	0.56613	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1734.33	36	chr1	227816191	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.488;DP=831;ExcessHet=0;FS=6.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.06;SOR=0.868	GT:AD:DP:GQ:PL	0/1:56,72:128:99:1748,0,1229	18	0	1	0
chr1	228107996	228107996	C	T	exonic	MRPL55	.	nonsynonymous SNV	MRPL55:NM_181462:exon4:c.G115A:p.G39S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.0109824	0.0048	0.0261	0.0023	0.0115	0	0.0006	0	0.0026	0.0019663	304	154602	rs76046017	0.0013	0.0014	0.0014	0.0013	0.0240	0.0013	0.0013	0.0225	0.0220	0.0240	0.0019	0.0002	0.0104	0.0021	0.0014	0.0002	0.0024	0.0020	0.0074	0.0074	0.0069	0.0080	0.0230	0.0071	0.0069	0.0218	0.0213	0.0230	0	0.0025	0.0006	0.0148	0.0016	0.0034	0.0004	0.0043	0.0014	0.017	0.51248	D	0.445	0.13140	T	0.005	0.12996	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	0.5	0.02945	N	0.094	0.07398	-1.0458	0.15592	T	0.031	0.13461	T	8	0.0029313862	0.00047	T	.	.	.	0.033	0.08068	.	.	0.141422826196	0.13715	0.048411383104036886	0.04784	.	.	0.235130384564	0.02369	T	.	.	.	-0.666133	0.00058	T	-0.710033	0.05294	T	0.00495011123987803	0.00053	T	0.325967	0.06723	T	.	.	.	.	.	.	.	.	-3.792	0.20685	T	.	.	0.106	0.19679	B	.;.	.;.	0.021083	0.04431	1.161	0.89942019413271157	0.19239	0.02549	0.07075	N	AEFBCI	0.037708	0.05227	N	-1.04078027097669	0.07769	0.3620596	-1.17805764569616	0.06278	0.3016704	0.999587451601126	0.40607	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	1.27	0.337	0.15206	-2.420000	0.01109	-2.278000	0.03960	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7446:0.0:0.2554	3.630	0.07669	637	0.64373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.005155	0.005731	0.002994	0.000000	0.009434	0.003268	0.008000	0.02632	1245.33	41	chr1	228107996	.	C	T	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=713;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.777;SOR=0.88	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1259,0,906	18	0	1	0
chr1	228148724	228148724	G	A	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598A:p.G200R	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00160157774497	.	0.000998403	0.0017	0.0001	0.0006	0	0.0002	0.0006	0.0034	0.0096	0.0013648	211	154602	rs72756242	0.0012	0.0012	0.0009	0.0015	0.0091	0.0011	0.0011	0.0085	0.0083	5.975e-05	0.0008	0.0009	0	0.0005	0.0042	0.0007	0.0011	0.0091	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.215e-05	0	0.0003	0.0012	0.0002	0.0004	0	0.0006	0.0005	0.0064	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.0038777292	0.00073	T	0.001602	0.02574	T	0.035	0.08770	0.246	0.18139	0.159798565429	0.15598	0.6236756774860084	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.482266	0.00717	T	-0.458695	0.26743	T	0.0203556797957862	0.00735	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.897310	0.12713	9.232	0.50664977611908646	0.04424	0.10357	0.15886	N	AEFDGBCI	0.328099	0.42887	N	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3902.85	42	chr1	228148724	.	G	A	3902.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=878;ExcessHet=0.119;FS=2.119;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.812;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1180	18	0	1	0
chr1	228148724	228148724	G	C	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598C:p.G200R	.	.	.	.	.	.	.	.	.	.	.	2373331	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00162073516703	0.0009	.	0.0008	0.0001	0.0004	0	0	0.0013	0	0.0002	0.0008021	124	154602	rs72756242	0.0011	0.0011	0.0011	0.0010	0.0016	0.0010	0.0010	0.0012	0.0012	2.988e-05	0.0002	0	0	0.0005	0.0016	0.0013	0.0007	0.0003	0.0008	0.0008	0.0010	0.0006	0.0017	0.0007	0.0007	0.0014	0.0013	9.62e-05	0	0.0001	0	0	0.0004	0	0.0017	0.0005	0	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.013327748	0.00283	T	0.001621	0.02625	T	0.040	0.10527	0.246	0.18139	0.159798565429	0.15598	0.6236756499439395	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.472426	0.00821	T	-0.458647	0.26747	T	0.0258339078450845	0.01383	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.165107	0.05550	2.009	0.42470869061348931	0.03133	0.19493	0.20682	N	AEFDGBCI	0.649591	0.62400	D	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3902.85	42	chr1	228148724	.	G	C	3902.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=878;ExcessHet=0.119;FS=2.119;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.812;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1180	18	0	1	0
chr1	228158125	228158125	G	T	exonic	GJC2	.	nonsynonymous SNV	GJC2:NM_020435:exon2:c.G367T:p.A123S	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3849460	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.842886326246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414596108	2.945e-05	3.01e-05	1.762e-05	4.239e-05	0.0025	2.131e-05	1.824e-05	0.0012	0.0008	0	0	0	0	0	0.0025	1.196e-05	7.098e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.05601	T	0.799	0.04079	T	0.01	0.15535	B	0.005	0.11217	B	0.757872	0.09647	N	0.842297	1	0.08975	N	0	0.06538	N	-4.64	0.97920	D	-0.04	0.07590	N	0.103	0.08646	0.011	0.82486	D	0.712	0.90119	D	10	0.17816135	0.32887	T	0.842886	0.98786	D	0.197	0.47942	0.362	0.36711	0.906959738677	0.90602	0.3926578986123011	0.39180	.	.	0.77312040329	0.77891	T	0.397882	0.75613	T	0.0026026	0.52012	T	-0.234038	0.51379	T	0.0366884614773712	0.03102	T	0.286971	0.05151	T	0.048177578	0.08357	0.05157042	0.08325	0.048177578	0.08356	0.05157042	0.08325	-5.063	0.37516	T	.	.	0.083	0.09433	B	.	.	0.293243	0.06695	3.199	0.40949341153456537	0.02923	0.06368	0.12369	N	AEFDBI	0.057579	0.10738	N	-1.43042045579695	0.02375	0.104809	-1.5111989112184	0.02258	0.1035533	0.996081988238559	0.34514	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.36	-5.29	0.02535	-0.025000	0.12361	-0.010000	0.13073	0.500000	0.22704	0.001000	0.13787	0.000000	0.08366	0.051000	0.15275	0.1412:0.3226:0.2165:0.3197	1.969	0.03194	548	0.72362	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002193	0.000000	0.002304	0.000000	0.000000	0.013158	0.004386	0.000000	0.02632	830.69	32	chr1	228158125	.	G	T	830.69	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.27;DP=436;ExcessHet=0;FS=1.862;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.26;ReadPosRankSum=-0.101;SOR=0.394	GT:AD:DP:GQ:PL	0/0:55,0:55:54:0,54,810	18	0	1	0
chr1	228216481	228216481	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon7:c.G2156A:p.R719Q,OBSCN:NM_001271223:exon7:c.G2156A:p.R719Q,OBSCN:NM_052843:exon7:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	4001447	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0247436965742	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757234831	5.004e-06	6.156e-06	4.233e-06	5.795e-06	5.588e-05	2.08e-06	1.34e-06	9.26e-06	3.46e-06	0	5.588e-05	0	2.794e-05	0	0	1.852e-06	0	2.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.11298	T	0.27	0.23298	T	0.236	0.30770	B	0.014	0.20508	B	0.003397	0.35013	N	0.233435	1	0.81001	D	0.765	0.19305	N	3.55	0.04746	T	-0.44	0.19933	N	0.148	0.15046	-0.8344	0.53015	T	0.008	0.02842	T	10	0.07209024	0.10714	T	0.024744	0.47736	T	0.042	0.11227	.	.	0.273503213844	0.26977	0.20953119184750352	0.20869	0.133100499212	0.14989	0.399855792522	0.25048	T	0.020606	0.16197	T	-0.430301	0.01476	T	-0.728096	0.04413	T	0.0941590666770935	0.11702	T	0.714029	0.32612	T	0.03691661	0.04635	0.044990398	0.05953	0.03691661	0.04634	0.044990398	0.05953	-4.907	0.35814	T	.	.	0.083	0.08997	B	.;.;.;.;.	.;.;.;.;.	2.347707	0.30093	18.33	0.98501827004540521	0.42228	0.41738	0.26724	N	AEFDBI	0.142919	0.26548	N	-0.547966248832948	0.20548	1.083989	-0.422407272816071	0.24340	1.332375	0.999736776588853	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	5.06	3.17	0.35510	1.392000	0.34095	0.660000	0.20495	0.618000	0.50648	0.736000	0.28985	0.001000	0.17328	0.956000	0.50813	0.1839:0.0:0.8161:0.0	8.295	0.31140	506	0.75555	.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	33	chr1	228216481	.	G	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=770;ExcessHet=0;FS=6.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.237;SOR=0.952	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	18	0	1	0
chr1	228245532	228245532	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon12:c.A3601G:p.K1201E,OBSCN:NM_052843:exon12:c.A3601G:p.K1201E,OBSCN:NM_001271223:exon13:c.A3877G:p.K1293E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.109863792917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.56456	D	0.0	0.92824	D	0.993	0.65571	D	0.886	0.62898	P	0.000000	0.84330	D	0.000000	0.771626	0.81001	D	3.58	0.93551	H	3.13	0.08014	T	-2.73	0.58896	D	0.312	0.35194	-0.7842	0.56065	T	0.103	0.37894	T	10	0.6987478	0.72309	D	0.109864	0.78701	D	0.262	0.57482	0.685	0.82271	0.697657426632	0.69504	0.3885553835063714	0.38770	0.530034928815	0.50556	0.594895243645	0.52183	T	0.226088	0.59101	T	-0.0601028	0.42890	T	-0.32411	0.42122	T	0.951185762882233	0.63504	D	0.951205	0.88585	D	0.5252708	0.68561	0.41243026	0.65446	0.5252708	0.68562	0.41243026	0.65446	-9.794	0.72669	D	.	.	0.756	0.75304	P	.;.;.;.;.	.;.;.;.;.	2.786247	0.36613	20.3	0.79617334186982003	0.12823	0.26145	0.22908	N	AEFBCI	0.680021	0.64386	D	0.612321515397973	0.73952	6.051025	0.468898315439574	0.65940	4.88762	0.938575407908768	0.27349	0.719381	0.83141	0	0.588015	0.36545	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	4.63	4.63	0.57175	6.970000	0.75885	7.911000	0.74030	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.122000	0.19250	1.0:0.0:0.0:0.0	14.098	0.64561	459	0.78817	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3762.33	33	chr1	228245532	.	A	G	3762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.797;DP=1248;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.576;SOR=0.712	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr1	228276554	228276554	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon22:c.T6325C:p.W2109R,OBSCN:NM_052843:exon22:c.T6325C:p.W2109R,OBSCN:NM_001271223:exon26:c.T7450C:p.W2484R	.	0	1512	10	0	0	10	0.00329598	.	.	.	707155	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.467	.	0.0080	0.00259585	0.0071	0.0024	0.0016	0	0.0051	0.0115	0.0048	0.0009	0.0068498	1059	154602	rs62621832	0.0098	0.0099	0.0101	0.0096	0.0114	0.0097	0.0097	0.0112	0.0112	0.0018	0.0022	0.0249	2.519e-05	0.0045	0.0043	0.0114	0.0090	0.0011	0.0070	0.0070	0.0078	0.0062	0.0108	0.0067	0.0065	0.0101	0.0099	0.0018	0	0.0044	0.0277	0	0.0067	0.0068	0.0108	0.0095	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999942	0.81001	D	3.565	0.93411	H	2.1	0.19990	T	-11.01	0.99320	D	0.737	0.73735	-0.7285	0.59039	T	0.102	0.37768	T	10	0.009407371	0.00212	T	.	.	.	0.467	0.76222	0.775	0.90080	0.583302769791	0.58002	0.4738505820176235	0.47304	0.65333821406	0.58477	0.73115259409	0.71674	T	0.301001	0.67347	T	-0.247706	0.14381	T	-0.119194	0.61869	T	0.11602079450028	0.14037	T	0.666633	0.27564	T	0.9378889	0.95032	0.92057985	0.96438	0.93950826	0.95198	0.92057985	0.96439	-9.889	0.73244	D	.	.	0.995	0.95431	P	.;.;.;.;.	.;.;.;.;.	4.303685	0.65734	24.9	0.91588255705269361	0.20869	0.97392	0.74458	D	AEFDBHCI	0.855804	0.77295	D	0.710307424612649	0.80308	7.265702	0.590985888189692	0.74292	6.112295	1.0	0.98316	0.455138	0.09556	0	0.491552	0.07993	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.14	5.14	0.70008	7.872000	0.85555	7.698000	0.66136	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:0.0:1.0	14.955	0.70751	439	0.80177	.;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002525	0.010204	0.002717	0.000000	0.050000	0.008621	0.000000	0.000000	0.02632	1054.33	33	chr1	228276554	.	T	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=1829;ExcessHet=0;FS=4.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.288;SOR=1.23	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr1	228279901	228279901	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon28:c.C7477T:p.R2493W,OBSCN:NM_052843:exon28:c.C7477T:p.R2493W,OBSCN:NM_001271223:exon33:c.C8764T:p.R2922W	.	1	1520	1	0	0	1	0.000328839	.	.	.	4038924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.428	0.297980680765	7.9e-05	.	0.0001	0	0	0	0	4.425e-05	0	0.0005	4.53e-05	7	154602	rs375061154	3.921e-05	4.104e-05	2.636e-05	5.229e-05	0.0005	3.096e-05	2.783e-05	0.0003	0.0003	0	7.608e-05	0	0	0	0	1.095e-05	6.755e-05	0.0005	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.014	0.54683	D	0.002	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.051936	0.22938	N	0.443096	0.999995	0.58761	D	1.67	0.42885	L	-0.3	0.67874	T	-4.11	0.76015	D	0.326	0.38643	-0.2163	0.77250	T	0.410	0.75894	T	10	0.32395923	0.49726	T	0.297981	0.90786	D	0.428	0.73517	.	.	0.817874784151	0.81616	0.1680083831447716	0.16720	0.487261875694	0.47556	0.430869817734	0.29328	T	0.22407	0.58839	T	-0.227022	0.17045	T	-0.25336	0.49485	T	0.740348219871521	0.42756	D	0.920008	0.83775	D	0.16350535	0.36497	0.13986078	0.33357	0.16350535	0.36496	0.13986078	0.33356	-10.7	0.77987	D	.	.	0.119	0.24498	B	.;.;.;.;.;.	.;.;.;.;.;.	3.815021	0.55051	23.6	0.99665186774425618	0.78202	0.47852	0.28075	N	AEFDBI	0.381253	0.46359	N	0.219903309033441	0.52165	3.392401	0.106034371132955	0.44856	2.759393	0.436345664025824	0.20415	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.01	-0.552	0.11227	0.937000	0.28549	5.316000	0.48277	0.594000	0.32500	0.984000	0.35821	1.000000	0.68203	0.930000	0.46718	0.4323:0.5677:0.0:0.0	14.179	0.65100	433	0.80627	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	37	chr1	228279901	.	C	T	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=826;ExcessHet=0;FS=8.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.389;SOR=0.864	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1257	18	0	1	0
chr1	228282095	228282095	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon31:c.G8360A:p.R2787H,OBSCN:NM_052843:exon31:c.G8360A:p.R2787H,OBSCN:NM_001271223:exon36:c.G9647A:p.R3216H	.	.	.	.	.	.	.	.	.	.	.	3577287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0916624922792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.502e-06	4.639e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.639e-05	6.568e-06	6.566e-06	0	1.344e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.557	0.06441	T	0.096	0.49942	T	0.058	0.30546	B	0.012	0.25828	B	0.444358	0.12587	N	0.723524	0.999996	0.28133	N	1.24	0.30952	L	-0.26	0.67187	T	-1.48	0.36189	N	0.255	0.35727	-0.8157	0.54202	T	0.209	0.56839	T	10	0.14782989	0.28004	T	0.091662	0.75747	D	0.100	0.28662	0.442	0.49811	0.690045052197	0.68738	0.19185448544488415	0.19103	0.539597992946	0.51187	0.273836553097	0.06647	T	0.032902	0.22686	T	-0.102795	0.35962	T	-0.385434	0.35085	T	0.300997278384915	0.25045	T	0.90141	0.77964	D	0.0656184	0.14042	0.043885704	0.05561	0.0656184	0.14041	0.043885704	0.05560	-3.663	0.18773	T	.	.	0.087	0.11317	B	.;.;.;.;.;.	.;.;.;.;.;.	2.771525	0.36384	20.2	0.96583607860884524	0.30344	0.64049	0.32282	D	AEFBI	0.135714	0.25614	N	-0.38761070762208	0.25910	1.41005	-0.368063261833648	0.25955	1.430612	0.936509298387484	0.27257	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	3.53	0.39533	3.171000	0.50524	5.727000	0.49501	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.011000	0.09372	0.3585:0.0:0.6414:0.0	5.897	0.18188	430	0.80826	.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1511.33	35	chr1	228282095	.	G	A	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=806;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.032;SOR=0.62	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1346	18	0	1	0
chr1	228286147	228286147	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon34:c.G9074A:p.R3025H,OBSCN:NM_052843:exon34:c.G9074A:p.R3025H,OBSCN:NM_001271223:exon39:c.G10361A:p.R3454H	.	0	1521	1	0	0	1	0.000328623	.	.	.	3567030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0290525353566	.	.	5.742e-05	0.0001	0.0001	0.0002	0	0	0	0.0002	5.17e-05	8	154602	rs764549415	2.193e-05	2.189e-05	1.636e-05	2.756e-05	0.0001	1.587e-05	1.358e-05	7.164e-05	5.511e-05	2.991e-05	0	0	0	0	0	1.71e-05	1.659e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.563	0.06322	T	0.132	0.35840	T	0.043	0.21573	B	0.007	0.15521	B	0.737648	0.09802	N	0.881324	0.999999	0.08975	N	1.345	0.33447	L	-0.28	0.67543	T	-1.74	0.41239	N	0.118	0.10769	-0.8414	0.52553	T	0.242	0.61036	T	10	0.33385044	0.50569	T	0.029053	0.51634	D	0.110	0.31079	0.568	0.69034	0.666318329589	0.66351	0.15299918120183287	0.15221	0.116783608843	0.13174	0.210332542658	0.00826	T	0.056841	0.30401	T	-0.315415	0.07280	T	-0.411413	0.32063	T	0.0496514958616007	0.05439	T	0.60064	0.22426	T	0.03851406	0.05144	0.036917493	0.03236	0.03851406	0.05143	0.036917493	0.03235	-8.473	0.64250	D	.	.	0.063	0.01491	B	.;.;.;.;.	.;.;.;.;.	2.163611	0.27570	17.51	0.98533119864132679	0.42620	0.69292	0.34130	D	AEFDBI	0.160058	0.28594	N	-0.195658899040957	0.33313	1.888664	-0.0901460511743608	0.35797	2.075292	0.00389630917701916	0.10327	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	5.67	3.75	0.42236	1.314000	0.33202	3.063000	0.36168	-0.103000	0.15852	0.831000	0.30147	0.424000	0.24822	0.111000	0.18785	0.1454:0.3468:0.5078:0.0	6.173	0.19644	422	0.81333	.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	6792.81	33	chr1	228286147	.	G	A	6792.81	.	AC=2;AF=0.053;AN=38;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.66;SOR=1.139	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr1	228294272	228294272	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon42:c.C11252T:p.T3751I,OBSCN:NM_052843:exon42:c.C11252T:p.T3751I,OBSCN:NM_001271223:exon47:c.C12539T:p.T4180I	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0201735341364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.32453	T	0.353	0.38016	T	0.0	0.14655	B	0.004	0.21939	B	0.923518	0.07491	N	1.041780	1	0.08975	N	0.735	0.18861	N	-0.28	0.67543	T	-1.48	0.54702	N	0.122	0.11340	-0.9758	0.35948	T	0.161	0.49548	T	10	0.11003399	0.20551	T	0.020174	0.42708	T	0.059	0.16972	0.376	0.38994	0.498001352042	0.49435	0.0673145378359585	0.06669	0.509482412268	0.49079	0.320209771395	0.13453	T	0.030201	0.21464	T	-0.17566	0.24383	T	-0.4901	0.23381	T	0.93339341878891	0.60012	D	0.0274473	0.00169	T	0.028963525	0.02316	0.03400118	0.02391	0.028963525	0.02316	0.03400118	0.02390	-6.436	0.49790	T	.	.	0.073	0.04681	B	.;.;.;.;.	.;.;.;.;.	-0.655175	0.01428	0.085	0.42708254415371338	0.03166	0.02387	0.06776	N	AEFBI	0.047912	0.08121	N	-1.10616218083006	0.06533	0.3009783	-1.07856981131101	0.08123	0.3980254	9.68060043178485E-5	0.04910	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.98	0.635	0.16895	-2.874000	0.00787	-12.426000	0.00526	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1224:0.54:0.1091:0.2284	3.845	0.08439	434	0.80536	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5479.33	452	chr1	228294272	.	C	T	5479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=1494;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.936;QD=12.12;ReadPosRankSum=-1.898;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1367	18	0	1	0
chr1	228299971	228299971	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon51:c.G13564A:p.A4522T	.	.	.	.	.	.	.	.	.	.	.	2816156	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0421264305338	0.0012	0.000199681	0.0008	0.0001	0.0004	0	0	0.0013	0	0.0002	0.0007438	115	154602	rs55939441	0.0011	0.0011	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0013	5.974e-05	0.0002	0	0	0.0005	0.0016	0.0013	0.0007	0.0003	0.0008	0.0008	0.0011	0.0006	0.0017	0.0007	0.0007	0.0015	0.0014	7.217e-05	0	0.0001	0	0	0.0004	0	0.0017	0.0005	0	0.52	0.07259	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.24	0.66834	T	-0.64	0.18670	N	0.257	0.29081	-0.3704	0.72949	T	0.365	0.72568	T	6	0.033243775	0.01496	T	0.042126	0.60298	D	0.089	0.25827	.	.	0.598497351524	0.59529	0.18321398758122603	0.18240	0.483530979331	0.47301	0.282843083143	0.07892	T	.	.	.	-0.39848	0.02369	T	-0.351332	0.39052	T	0.0362840761133369	0.03030	T	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.459245	0.18817	13.94	0.99551598161275712	0.71148	0.94440	0.61173	D	AEFBI	0.424467	0.48963	N	0.0798137855620924	0.45521	2.807307	0.0703549821887502	0.43066	2.616137	0.548566511211465	0.21314	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.37	3.43	0.38372	2.065000	0.41068	4.251000	0.42758	0.676000	0.76740	0.871000	0.30813	0.961000	0.29326	0.257000	0.23443	0.0:0.0:0.8419:0.1581	13.452	0.60630	443	0.79878	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2918.33	42	chr1	228299971	.	G	A	2918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=879;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.75;SOR=0.616	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr1	228304563	228304563	A	-	exonic	OBSCN	.	frameshift deletion	OBSCN:NM_001271223:exon53:c.14263delA:p.R4755Gfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.113e-05	0	0	0	0	1.5e-05	0.0011	0.0005	7.12e-05	11	154602	rs757235385	5.679e-05	5.746e-05	3.267e-05	8.114e-05	0.0008	4.677e-05	4.302e-05	0.0007	0.0006	0	0	0	7.557e-05	0	0.0002	6.296e-06	0	0.0008	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3103.29	37	chr1	228304562	.	CA	C	3103.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.738;DP=890;ExcessHet=0;FS=3.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.04;SOR=0.987	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr1	228318024	228318024	A	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon53:c.A13982C:p.E4661A,OBSCN:NM_052843:exon53:c.A13982C:p.E4661A,OBSCN:NM_001271223:exon64:c.A16853C:p.E5618A	.	0	1510	12	0	0	12	0.00395778	.	.	.	732229	not_provided|not_specified|OBSCN-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.399	0.18031691965	0.0006	0.000399361	0.0011	0.0001	0.0003	0	0	0.0018	0.0033	0.0007	0.0009638	149	154602	rs200399314	0.0008	0.0008	0.0008	0.0009	0.0147	0.0008	0.0008	0.0122	0.0113	0.0004	0.0004	0.0212	0	0	0.0147	0.0003	0.0024	0.0005	0.0008	0.0008	0.0008	0.0008	0.0005	0.0007	0.0006	0.0003	0.0003	4.816e-05	0	0.0005	0.0213	0	0	0.0102	0.0004	0.0024	0.0004	0.009	0.57480	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000216	0.47681	D	0.083348	0.999649	0.48019	D	2.115	0.58683	M	-0.3	0.67874	T	-3.31	0.68178	D	0.354	0.39558	-0.1637	0.78580	T	0.430	0.77186	T	10	0.0078092813	0.00177	T	0.180317	0.85482	D	0.399	0.71321	.	.	0.867104878925	0.86581	0.5149812329719438	0.51421	0.497118212147	0.48206	0.495967596769	0.38266	T	0.223638	0.58785	T	-0.266614	0.12137	T	-0.253157	0.49505	T	0.100813378503162	0.12446	T	0.90081	0.65538	D	0.27301317	0.50370	0.23747745	0.49046	0.30178356	0.53064	0.22069426	0.46853	-2.859	0.12776	T	.	.	0.503	0.64740	A	.;.;.;.;.	.;.;.;.;.	2.667864	0.34770	19.72	0.98243915337798793	0.39512	0.94452	0.61211	D	AEFDBI	0.280277	0.39413	N	0.379070642612692	0.60288	4.216268	0.285924677604066	0.54715	3.635864	0.99967231649249	0.41644	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	1.593000	0.36297	10.933000	0.84297	0.688000	0.82842	0.445000	0.26527	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	13.677	0.61936	443	0.79878	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.005435	0.026316	0.050000	0.008621	0.000000	0.000000	0.02632	963.33	35	chr1	228318024	.	A	C	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.792;DP=1127;ExcessHet=0;FS=3.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.954;SOR=0.969	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr1	228335230	228335230	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon62:c.C16337T:p.T5446I,OBSCN:NM_052843:exon62:c.C16337T:p.T5446I,OBSCN:NM_001271223:exon73:c.C19208T:p.T6403I	.	.	.	.	.	.	.	.	.	.	.	2816166	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0178101566131	.	0.000199681	0.0010	0.0010	0	0	0	0.0020	0	0.0004	0.0002652	41	154602	rs113760892	0.0011	0.0011	0.0011	0.0011	0.0016	0.0011	0.0011	0.0013	0.0013	6.332e-05	0.0002	0	2.799e-05	0.0005	0.0016	0.0014	0.0007	0.0003	0.0009	0.0009	0.0011	0.0006	0.0018	0.0007	0.0007	0.0015	0.0014	7.27e-05	0	0.0001	0	0	0.0004	0	0.0018	0.0005	0	0.015	0.57480	D	0.01	0.74150	D	0.225	0.31683	B	0.032	0.25828	B	0.037500	0.24396	N	0.414273	0.957539	0.30832	N	0.97	0.24054	L	-0.24	0.66834	T	-2.56	0.60507	D	0.259	0.29313	-0.8784	0.49888	T	0.186	0.53571	T	10	0.061312377	0.07668	T	0.01781	0.39652	T	0.143	0.38195	.	.	0.730405627939	0.72801	0.20404569306352718	0.20321	0.153784230414	0.17355	0.371907830238	0.21105	T	0.228529	0.59410	T	-0.353293	0.04524	T	-0.286424	0.46143	T	0.0433756548700178	0.04306	T	0.743826	0.36463	T	0.11374133	0.26860	0.14271301	0.33943	0.11374133	0.26859	0.14271301	0.33942	-4.931	0.36082	T	.	.	0.133	0.28636	B	.;.;.;.;.	.;.;.;.;.	2.460153	0.31693	18.82	0.99239626658140723	0.56501	0.92317	0.55433	D	AEFDBI	0.237174	0.35950	N	-0.0460309099151475	0.39778	2.351452	0.121643818147495	0.45659	2.825088	0.0358156354968328	0.14217	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	2.221000	0.42559	2.119000	0.30708	-0.231000	0.07715	0.985000	0.35982	0.986000	0.30841	0.106000	0.18562	0.138:0.862:0.0:0.0	15.620	0.76545	436	0.80373	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002741	0.000000	0.006061	0.000000	0.000000	0.000000	0.000000	0.008264	0.02632	1032.33	38	chr1	228335230	.	C	T	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=750;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.212;SOR=0.846	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr1	228338877	228338877	T	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R	.	3	1476	43	0	0	43	0.0143573	.	.	.	707172	not_specified|not_provided|OBSCN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0072	0.00439297	0.0085	0.0032	0.0078	0	0.0221	0.0137	0.0110	0.0049	0.0037451	579	154602	rs144372515	0.0090	0.0088	0.0091	0.0089	0.0096	0.0088	0.0088	0.0094	0.0093	0.0016	0.0047	0.0088	0	0.0185	0.0096	0.0095	0.0085	0.0051	0.0078	0.0078	0.0071	0.0085	0.0103	0.0074	0.0072	0.0097	0.0095	0.0016	0	0.0059	0.0112	0	0.0224	0.0068	0.0103	0.0095	0.0050	0.12	0.31987	T	0.037	0.54934	D	0.911	0.51527	P	0.563	0.53781	P	0.000761	0.41888	D	0.234553	0.767852	0.29469	N	1.67	0.42885	L	-0.05	0.63403	T	-2.56	0.60188	D	0.399	0.51672	-0.7585	0.57487	T	0.129	0.43807	T	10	0.0076900125	0.00175	T	.	.	.	0.269	0.58381	0.399	0.42753	0.775179878316	0.77311	0.22355228075459652	0.22270	0.481082541516	0.47111	0.339352577925	0.16341	T	0.223911	0.58819	T	-0.381875	0.03032	T	-0.311919	0.43453	T	0.0406107610455908	0.03802	T	0.886611	0.61335	D	0.4041637	0.61020	0.26578072	0.52415	0.34331718	0.56543	0.26578072	0.52414	-9.811	0.76109	D	.	.	0.243	0.47730	B	.;.;.;.;.	.;.;.;.;.	1.813313	0.23047	15.86	0.99309160238229743	0.58943	0.69024	0.34025	D	AEFDBHCI	0.227568	0.35136	N	-0.252870599699199	0.30990	1.733249	-0.303343319951633	0.27991	1.557217	0.939069188608006	0.27371	0.631981	0.41245	0	0.588015	0.36545	0	0.779548	0.98927	0	0.562822	0.20929	0	.	.	4.97	-0.0965	0.12973	-0.109000	0.10810	0.198000	0.15820	-0.321000	0.05860	0.555000	0.27385	0.973000	0.29867	0.153000	0.20410	0.0:0.5866:0.0:0.4134	10.255	0.42566	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013130	0.020619	0.019943	0.005917	0.000000	0.000000	0.009804	0.015748	0.02632	778.33	35	chr1	228338877	.	T	A	778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.576;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.056;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr1	228340062	228340062	G	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon70:c.G17376C:p.E5792D,OBSCN:NM_052843:exon70:c.G17376C:p.E5792D,OBSCN:NM_001271223:exon81:c.G20247C:p.E6749D	.	1	1517	4	0	0	4	0.00131666	.	.	.	3363044	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.0413067154791	.	.	9.289e-05	0	0.0004	0	0	6.121e-05	0	0.0002	7.12e-05	11	154602	rs574673430	6.227e-05	6.225e-05	5.855e-05	6.602e-05	0.0029	5.162e-05	4.781e-05	0.0019	0.0015	0	0.0005	3.826e-05	0	5.634e-05	0.0029	3.058e-05	0.0001	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.713e-05	0.0006	0.0005	2.407e-05	0	0.0010	0	0	0	0.0068	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.989	0.64070	D	0.783	0.61339	P	0.000001	0.84330	D	0.000000	0.997757	0.49910	D	1.715	0.44382	L	-0.05	0.63403	T	-2.29	0.53420	N	0.482	0.51672	-0.7941	0.55491	T	0.218	0.58111	T	10	0.30759162	0.48261	T	0.041307	0.59855	D	0.374	0.69273	0.681	0.81885	0.763175185089	0.76102	0.6678747352553052	0.66725	0.468134351491	0.46167	0.562715768814	0.47650	T	0.095438	0.39620	T	-0.217022	0.18401	T	-0.208964	0.53794	T	0.327340513467789	0.26118	T	0.905909	0.66829	D	0.74296564	0.80462	0.60450983	0.77013	0.77708894	0.82477	0.75184536	0.85333	-9.843	0.73708	D	.	.	0.600	0.68875	P	.;.;.;.;.	.;.;.;.;.	2.515474	0.32499	19.06	0.98324164231465971	0.40270	0.97200	0.73280	D	AEFBI	0.585687	0.58402	D	0.0609483865382512	0.44648	2.734988	0.0871753744144095	0.43900	2.682445	0.0194894746638058	0.13166	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.98	4.06	0.46572	3.547000	0.53416	4.428000	0.43340	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0815:0.0:0.9185:0.0	12.565	0.55652	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1738.33	34	chr1	228340062	.	G	C	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.495;SOR=0.74	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr1	228365001	228365001	C	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon81:c.C18862G:p.Q6288E,OBSCN:NM_001271223:exon92:c.C21733G:p.Q7245E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0107266972215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.042e-07	6.84e-07	0	1.423e-06	9.162e-07	0	0	.	.	0	0	0	0	0	0	9.162e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.489	0.12351	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	0.08	0.61559	T	-1.21	0.30762	N	0.189	0.22357	-1.0094	0.27105	T	0.057	0.24092	T	9	0.0825524	0.13637	T	0.010727	0.27599	T	0.038	0.09825	0.236	0.16608	0.567821670524	0.56447	0.1330185531914331	0.13225	0.111295359822	0.12556	0.342922329903	0.16874	T	0.021592	0.16786	T	-0.183664	0.23193	T	-0.501597	0.22181	T	0.0624157500403294	0.07544	T	0.683732	0.29211	T	0.15032248	0.34226	0.077020645	0.17116	0.15032248	0.34226	0.077020645	0.17116	-3.056	0.10798	T	.	.	0.075	0.05623	B	.;.;.;.	.;.;.;.	0.552632	0.09211	5.995	0.39353592455408437	0.02710	0.03942	0.09338	N	AEFDBI	0.038608	0.05489	N	-0.71983029662454	0.15466	0.7795887	-0.864269158284977	0.12944	0.6688342	0.496366904048156	0.20906	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.95	0.96	0.18753	1.290000	0.32925	0.896000	0.22511	0.549000	0.26987	0.001000	0.13787	0.002000	0.18203	0.081000	0.17303	0.0:0.548:0.452:0.0	8.883	0.34546	428	0.80967	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1489.33	33	chr1	228365001	.	C	G	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=770;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.949;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1317	18	0	1	0
chr1	228371471	228371471	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.G20693A:p.R6898Q,OBSCN:NM_001271223:exon105:c.G23564A:p.R7855Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.410982452677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450865662	8.343e-06	9.577e-06	7.414e-06	9.315e-06	0.0002	4.48e-06	3.27e-06	2.827e-05	1.844e-05	3.476e-05	0	0	0	3.035e-05	0.0002	2.865e-06	0	7.283e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.013	0.63109	D	0.921	0.51088	P	0.137	0.33328	B	.	.	.	.	0.959024	0.26202	N	2.045	0.56016	M	-0.13	0.64818	T	-2.09	0.47683	N	0.388	0.47949	-0.8175	0.54090	T	0.142	0.46386	T	9	0.2530918	0.42672	T	0.410982	0.93598	D	0.128	0.35103	0.352	0.35084	0.714994035518	0.71249	0.10976665725737786	0.10905	0.28308762168	0.30759	0.808196663857	0.83215	D	0.045783	0.27227	T	-0.0569046	0.43390	T	-0.319516	0.42628	T	0.391845953442734	0.28634	T	0.860114	0.55285	D	0.13559434	0.31463	0.126094	0.30372	0.13559434	0.31463	0.126094	0.30371	-4.369	0.29133	T	.	.	0.210	0.43815	B	.;.;.;.	.;.;.;.	3.682024	0.52413	23.2	0.97975308420999507	0.37283	0.06315	0.12312	N	AEFDBHCIJ	0.073296	0.14656	N	-0.0513678528665672	0.39541	2.333489	-0.0774486829198161	0.36324	2.112492	0.999964993635592	0.48965	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.41	4.41	0.52588	3.574000	0.53608	5.590000	0.48994	0.667000	0.69007	0.252000	0.24869	0.999000	0.35428	0.211000	0.22211	0.1061:0.0:0.8939:0.0	9.652	0.39066	428	0.80967	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000558	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1152.33	36	chr1	228371471	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.231;DP=744;ExcessHet=0;FS=6.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.949;SOR=0.235	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1445	18	0	1	0
chr1	228487495	228487495	C	T	exonic	RNF187	.	nonsynonymous SNV	RNF187:NM_001010858:exon1:c.C7T:p.L3F	.	431	1087	3	1	0	5	0.00229463	.	.	.	2345098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1006476921	0.0003	0.0002	0.0003	0.0003	0.0064	0.0002	0.0002	0.0039	0.0032	0.0003	0.0006	0.0003	0	0	0.0064	0.0002	0.0001	0.0016	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	4.839e-05	0	0.0004	0.0003	0	9.992e-05	0.0103	0.0002	0	0.0008	.	.	.	0.0	0.92824	D	0.948	0.53620	P	0.478	0.47030	P	.	.	.	.	0.998461	0.22137	N	1.43	0.35840	L	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.16893631	0.31473	T	.	.	.	.	.	.	.	0.651660614473	0.64876	0.1813352742045692	0.18052	.	.	0.817205429077	0.84600	D	0.036184	0.24008	T	-0.036724	0.46434	T	-0.290528	0.45718	T	.	.	.	.	.	.	0.06026763	0.12347	0.15776184	0.36874	0.06026763	0.12346	0.15776184	0.36873	-5.347	0.40406	T	.	.	0.119	0.24532	B	.;.	.;.	2.787682	0.36639	20.3	0.9677352149948798	0.31045	0.03330	0.08404	N	ALL	.	.	.	.	.	.	.	.	.	0.999999301839419	0.74766	0.142881	0.03202	1	0.090139	0.02499	0	0.158946	0.03948	1	0.088244	0.02422	0	0.12303	0.24969	3.46	2.21	0.27042	0.326000	0.19391	0.488000	0.18872	0.387000	0.20461	0.002000	0.15269	0.000000	0.08366	0.953000	0.50222	0.0:0.7429:0.2571:0.0	11.220	0.48078	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004717	0.008197	0.027778	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	576.33	35	chr1	228487495	.	C	T	576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.08;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	18	0	1	0
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	178.33	21	chr1	229558205	.	C	A	178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=320;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.81;SOR=0.223	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,261	18	0	1	0
chr1	229614464	229614464	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_001025247:exon2:c.G19A:p.E7K,TAF5L:NM_014409:exon2:c.G19A:p.E7K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0743032420042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.92824	D	0.999	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.04	0.62051	T	-0.86	0.66549	N	0.936	0.96871	-0.2806	0.75524	T	0.438	0.77695	T	9	0.7513443	0.75660	D	0.074303	0.72007	D	0.346	0.66769	0.402	0.43245	0.710910423371	0.70838	0.664216391094955	0.66358	0.642444202112	0.57808	0.797382831573	0.81565	T	0.08921	0.44873	T	0.329859	0.85155	D	0.236043	0.84961	D	0.973430991172791	0.70095	D	0.845915	0.56644	T	0.6665391	0.76248	0.5883987	0.76123	0.6665391	0.76249	0.5883987	0.76124	-7.179	0.55330	T	.	.	0.841	0.89526	P	.;.;.;.	.;.;.;.	5.310230	0.89146	29.9	0.99934558451644306	0.99535	0.98795	0.86952	D	AEFBI	0.852769	0.76968	D	0.793528142876029	0.85699	8.654641	0.795451576270333	0.89474	9.990287	0.999999999999969	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.552000	0.81138	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.002	0.97411	519	0.74455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	45	chr1	229614464	.	C	T	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=877;ExcessHet=0;FS=3.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.22;SOR=0.875	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr1	229635700	229635702	CTA	-	exonic	URB2	.	nonframeshift deletion	URB2:NM_001314021:exon4:c.1087_1089del:p.L364del,URB2:NM_014777:exon4:c.1087_1089del:p.L364del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2047.29	33	chr1	229635699	.	GCTA	G	2047.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.237;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-0.955;SOR=0.655	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1287	18	0	1	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.02632	900.33	33	chr1	229651283	.	G	A	900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=721;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.326;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	190.94	118	chr1	229659277	.	G	A	190.94	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.706;DP=1880;ExcessHet=0;FS=232.548;InbreedingCoeff=-0.2207;MLEAC=2;MLEAF=0.111;MQ=59.99;MQRankSum=0;QD=1.58;ReadPosRankSum=0.61;SOR=10.188	GT:AD:DP:GQ:PL	0/0:86,31:130:3:0,3,1583	8	0	1	10
chr1	230236021	230236021	C	T	exonic	GALNT2	.	nonsynonymous SNV	GALNT2:NM_001291866:exon4:c.C268T:p.R90W,GALNT2:NM_004481:exon4:c.C382T:p.R128W	.	.	.	.	.	.	.	.	.	.	.	2436112	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0490520797103	.	.	3.345e-05	0	0	0.0001	0	3.032e-05	0	6.111e-05	2.59e-05	4	154602	rs779465339	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0003	1.933e-05	1.692e-05	0.0002	0.0002	0	0	0	0.0002	0	0	6.296e-06	0	0.0003	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.017	0.51248	D	0.013	0.63109	D	0.988	0.62325	D	0.278	0.40236	B	0.000452	0.44317	D	0.146811	0.994513	0.42311	D	1.67	0.42885	L	0.21	0.59983	T	-3.27	0.65512	D	0.614	0.63035	-0.7676	0.56989	T	0.155	0.48619	T	10	0.4725099	0.59947	T	0.049052	0.63645	D	0.194	0.47447	.	.	0.382607109125	0.37878	0.4521132933090152	0.45129	0.700212891818	0.61091	0.561659157276	0.47501	T	0.258789	0.62997	T	-0.192965	0.21824	T	-0.255278	0.49294	T	0.566881358623505	0.35115	D	0.979152	0.92740	D	0.5027352	0.67255	0.2610678	0.51878	0.5027352	0.67256	0.2610678	0.51877	-13.278	0.90475	D	0.2153270997613053	0.28947	0.136	0.29642	B	.	.	4.315537	0.66008	24.9	0.99846227485062866	0.92576	0.87244	0.46725	D	AEFDBI	0.608479	0.59804	D	0.219475934166262	0.52143	3.390455	0.236444327362488	0.51882	3.367025	0.964578413790703	0.28770	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.18	3.13	0.35090	2.075000	0.41163	0.829000	0.21929	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.984000	0.60418	0.5365:0.4635:0.0:0.0	11.193	0.47921	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1525.33	33	chr1	230236021	.	C	T	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.915;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T	.	429	1057	36	0	0	36	0.0167442	.	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.005435	0.011696	0.000000	0.000000	0.033537	0.018939	0.02632	2084.33	40	chr1	230357055	.	C	T	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=792;ExcessHet=0;FS=2.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.65;SOR=0.93	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr1	230671630	230671630	G	A	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon8:c.G889A:p.A297T,COG2:NM_007357:exon8:c.G889A:p.A297T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0122313911702	.	.	2.474e-05	0	8.652e-05	0	0	3e-05	0	0	1.94e-05	3	154602	rs752216823	8.212e-06	8.209e-06	9.533e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	2.239e-05	0	2.52e-05	0	0.0002	5.397e-06	1.657e-05	2.32e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0.0002	0	0	2.941e-05	0	0	0.17	0.22833	T	0.364	0.16766	T	0.007	0.14184	B	0.007	0.12992	B	0.000050	0.53742	D	0.162249	0.982011	0.39842	D	2.08	0.57402	M	1.55	0.29866	T	-0.31	0.17210	N	0.252	0.29313	-1.0936	0.04959	T	0.053	0.22655	T	10	0.10485911	0.19354	T	0.012231	0.30616	T	0.040	0.10527	0.236	0.16608	0.202949470691	0.19918	0.45790773148014136	0.45708	0.141679753967	0.15969	0.386036038399	0.23110	T	0.102199	0.40969	T	-0.319289	0.06955	T	-0.514885	0.20814	T	0.246834933757782	0.22731	T	0.868613	0.57103	D	0.042716745	0.06530	0.06389324	0.12723	0.048889276	0.08592	0.056918267	0.10254	-3.375	0.14722	T	.	.	0.069	0.04356	B	.;.;.	.;.;.	2.131991	0.27144	17.36	0.98768764066475701	0.45940	0.91544	0.53752	D	AEFBI	0.091456	0.18525	N	-0.261929384538163	0.30629	1.709689	-0.119787246812865	0.34593	1.991613	0.129551943662303	0.17062	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	4.18	0.48473	3.078000	0.49794	5.109000	0.47498	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.300000	0.24500	0.1512:0.0:0.8488:0.0	10.437	0.43629	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	513.33	33	chr1	230671630	.	G	A	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=654;ExcessHet=0;FS=3.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.755;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1061	18	0	1	0
chr1	230678952	230678952	C	T	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon10:c.C1066T:p.R356W,COG2:NM_007357:exon10:c.C1066T:p.R356W	.	431	1085	6	0	0	6	0.00275735	.	.	.	794606	not_specified|not_provided|Congenital_disorder_of_glycosylation,_type_IIq	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0385122524623	7.7e-05	.	4.956e-05	0	0	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs200705175	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	5.978e-05	0.0001	0	7.564e-05	1.873e-05	0.0003	0.0001	0.0002	5.802e-05	6.575e-05	6.568e-05	5.141e-05	8.076e-05	8.821e-05	3.518e-05	2.618e-05	3.762e-05	2.575e-05	7.243e-05	0	6.546e-05	0	0	0	0	8.821e-05	0	0	0.011	0.58626	D	0.082	0.45318	T	0.975	0.58077	D	0.386	0.44011	B	0.028839	0.25543	N	0.429971	0.998428	0.44899	D	2.77	0.80896	M	3.52	0.04905	T	-3.81	0.71882	D	0.612	0.62950	-0.6686	0.61892	T	0.181	0.52767	T	10	0.5218507	0.62688	D	0.038512	0.58269	D	0.213	0.50496	.	.	0.336892272479	0.33291	0.5122040009096595	0.51142	0.43872957691	0.43897	0.35747730732	0.19017	T	0.495744	0.81833	T	-0.262869	0.12567	T	-0.360324	0.38016	T	0.652112305164337	0.38552	D	0.940206	0.77406	D	0.13691837	0.31723	0.14632757	0.34670	0.13691837	0.31723	0.14632757	0.34669	-6.868	0.53063	T	0.4917912686882258	0.56855	0.088	0.15520	B	.;.;.	.;.;.	4.148323	0.62211	24.4	0.99868102475979881	0.94637	0.89017	0.49236	D	AEFBI	0.486604	0.52570	N	0.300363824959683	0.56167	3.781131	0.259958012969278	0.53217	3.491826	0.33508970711538	0.19525	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.06	0.34374	1.826000	0.38730	2.329000	0.32183	0.599000	0.40250	1.000000	0.71638	0.454000	0.24968	0.985000	0.61073	0.1142:0.6294:0.2564:0.0	12.749	0.56672	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	33	chr1	230678952	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=698;ExcessHet=0;FS=2.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.56;SOR=0.46	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	18	0	1	0
chr1	230916242	230916242	C	A	exonic	TTC13	.	nonsynonymous SNV	TTC13:NM_001376509:exon14:c.G1657T:p.D553Y,TTC13:NM_001376514:exon14:c.G1654T:p.D552Y,TTC13:NM_001376508:exon15:c.G1723T:p.D575Y,TTC13:NM_001122835:exon16:c.G1882T:p.D628Y,TTC13:NM_001376511:exon16:c.G1885T:p.D629Y,TTC13:NM_001376512:exon16:c.G1813T:p.D605Y,TTC13:NM_001376507:exon17:c.G1951T:p.D651Y,TTC13:NM_001376513:exon17:c.G1948T:p.D650Y,TTC13:NM_001376510:exon18:c.G2041T:p.D681Y,TTC13:NM_024525:exon18:c.G2044T:p.D682Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.031016608184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.83	0.47815	T	-1.32	0.32991	N	0.897	0.95841	-0.6404	0.63129	T	0.264	0.63469	T	10	0.757654	0.76104	D	0.031017	0.53199	D	0.320	0.64215	0.322	0.30226	0.395439683604	0.39153	0.6995973872822239	0.69900	1.00358623239	0.74505	0.818699240685	0.84828	D	0.157319	0.49987	T	0.257842	0.79328	D	0.132596	0.79060	D	0.915164589881897	0.57208	D	0.943906	0.78806	D	0.4233447	0.62314	0.30597314	0.56623	0.4233447	0.62314	0.30597314	0.56622	-2.608	0.07312	T	.	.	0.179	0.38994	B	.;.	.;.	5.160780	0.86467	28.9	0.99453043413848363	0.65376	0.98776	0.86705	D	AEFBI	0.869361	0.78986	D	0.776995981085367	0.84648	8.346876	0.80434348893219	0.90095	10.25341	0.999999999999774	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.9	5.9	0.94952	7.568000	0.81546	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.282	0.98522	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2246.33	34	chr1	230916242	.	C	A	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.071;DP=809;ExcessHet=0;FS=2.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.081;SOR=0.503	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1431	18	0	1	0
chr1	230931417	230931417	C	T	exonic	TTC13	.	nonsynonymous SNV	TTC13:NM_001376509:exon7:c.G794A:p.S265N,TTC13:NM_001376514:exon7:c.G794A:p.S265N,TTC13:NM_001376508:exon8:c.G860A:p.S287N,TTC13:NM_001122835:exon9:c.G1022A:p.S341N,TTC13:NM_001376511:exon9:c.G1022A:p.S341N,TTC13:NM_001376512:exon9:c.G953A:p.S318N,TTC13:NM_001376507:exon10:c.G1088A:p.S363N,TTC13:NM_001376513:exon10:c.G1088A:p.S363N,TTC13:NM_001376510:exon11:c.G1181A:p.S394N,TTC13:NM_024525:exon11:c.G1181A:p.S394N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0333854769429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.073	0.51421	T	0.893	0.50927	P	0.368	0.43478	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.41	0.12415	N	1.16	0.60361	T	-1.84	0.43149	N	0.637	0.64989	-0.5320	0.67465	T	0.278	0.65007	T	10	0.46691078	0.59626	T	0.033385	0.54945	D	0.116	0.32463	0.411	0.44723	0.321697908245	0.31786	0.6917932731966947	0.69119	0.266466125638	0.29189	0.845442771912	0.88925	D	0.031579	0.22107	T	-0.00897401	0.50411	T	-0.250667	0.49750	T	0.851993083953857	0.50338	D	0.917108	0.70302	D	0.36755747	0.58404	0.37084377	0.62325	0.36755747	0.58405	0.37084377	0.62325	-9.545	0.73238	D	.	.	0.748	0.74965	P	.;.	.;.	4.563922	0.71947	25.8	0.9940352094880337	0.62934	0.96741	0.70691	D	AEFBI	0.667107	0.63534	D	0.472261879452317	0.65477	4.827383	0.556456088859597	0.71847	5.717764	0.999999999985018	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	6.080000	0.70936	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.992	0.97372	845	0.36510	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1013.33	33	chr1	230931417	.	C	T	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=738;ExcessHet=0;FS=1.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.552;SOR=0.944	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1027,0,1249	18	0	1	0
chr1	230978796	230978796	-	AGC	exonic	TTC13	.	nonframeshift insertion	TTC13:NM_001122835:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376507:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376508:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376509:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376510:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376511:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376512:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376513:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376514:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_024525:exon1:c.34_35insGCT:p.C11_F12insC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0014	0.0259	0	0	0	0.0015	0	0.0009	0.0017289	45	26028	rs577954914	0.0009	0.0009	0.0009	0.0009	0.0116	0.0009	0.0008	0.0105	0.0101	0.0116	0.0016	4.296e-05	0.0003	0.0002	0.0020	0.0006	0.0015	0.0010	0.0044	0.0044	0.0044	0.0044	0.0139	0.0042	0.0041	0.0129	0.0125	0.0139	0	0.0030	0	0.0002	9.45e-05	0	0.0006	0.0043	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	962.29	41	chr1	230978796	.	A	AAGC	962.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.918;DP=704;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=1.46;SOR=0.832	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E,ARV1:NM_022786:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	436	1043	41	2	0	45	0.0211168	.	.	.	707195	not_provided|ARV1-related_disorder	MedGen:C3661900|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.032164	0.000000	0.017241	0.021341	0.003788	0.02632	1231.33	34	chr1	230990117	.	G	A	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=708;ExcessHet=0;FS=9.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.367;SOR=0.187	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	230997240	230997240	A	G	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_022786:exon5:c.A793G:p.I265V,ARV1:NM_001346992:exon6:c.A892G:p.I298V	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00656653543555	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs368530211	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0002	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	2.236e-05	0	0	0	0.0002	2.158e-05	3.312e-05	0	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.292	0.14894	T	0.767	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	0.715507	0.06283	N	1.167520	1	0.08975	N	0.805	0.20218	L	2.67	0.12473	T	-0.07	0.08033	N	0.131	0.12627	-0.9627	0.38664	T	0.015	0.06138	T	9	0.05089426	0.04889	T	0.006567	0.17329	T	0.032	0.07718	.	.	0.167679373172	0.16340	0.14958560340803356	0.14880	0.136564958709	0.15401	0.318382501602	0.13175	T	0.08414	0.39900	T	-0.33159	0.05992	T	-0.650436	0.08924	T	0.0222954741157106	0.00942	T	0.608739	0.23025	T	0.013184699	0.00052	0.025145413	0.00549	0.013184699	0.00052	0.025145413	0.00549	-3.751	0.20074	T	.	.	0.064	0.02012	B	.;.	.;.	0.520217	0.08890	5.670	0.47840382115003743	0.03944	0.04544	0.10180	N	AEFBI	0.080805	0.16343	N	-1.2428298816188	0.04394	0.1982463	-1.32778453913946	0.04074	0.1914437	0.627942697173268	0.21943	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	-6.75	0.01575	-0.311000	0.08164	1.413000	0.26297	0.754000	0.88378	0.117000	0.23121	0.659000	0.26006	0.599000	0.31363	0.1819:0.1229:0.3336:0.3616	1.545	0.02409	791	0.46100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	33	chr1	230997240	.	A	G	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=752;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.398;SOR=0.867	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	231019885	231019885	T	C	exonic	FAM89A	.	nonsynonymous SNV	FAM89A:NM_198552:exon2:c.A533G:p.D178G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0151154171792	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755089815	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.638e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.075	0.42794	T	0.952	0.54136	P	0.436	0.45556	B	0.022189	0.26683	N	0.403750	0.524247	0.31922	D	2.25	0.63811	M	.	.	.	-1.99	0.45949	N	0.303	0.34228	-0.8295	0.53333	T	0.117	0.41165	T	9	0.15813905	0.29745	T	0.015115	0.35666	T	0.107	0.30369	0.192	0.10304	0.110078149338	0.10416	0.41348785517322545	0.41264	0.375523553379	0.39009	0.443435907364	0.31047	T	0.033269	0.22843	T	-0.133037	0.31005	T	-0.247347	0.50078	T	0.495277613401413	0.32457	T	0.611839	0.23263	T	0.1644394	0.36651	0.16822906	0.38766	0.1644394	0.36651	0.16822906	0.38765	-3.774	0.20417	T	.	.	0.181	0.39408	B	.	.	3.637086	0.51552	23.1	0.98813470376113666	0.46655	0.76792	0.37691	D	AEFBCI	0.188241	0.31552	N	0.0954060758025378	0.46248	2.868144	0.0861585911628652	0.43849	2.678394	0.998939357242044	0.38009	0.562547	0.31514	0	0.588066	0.40923	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.85	3.35	0.37468	1.455000	0.34800	2.756000	0.34570	0.654000	0.53741	0.791000	0.29607	1.000000	0.68203	0.810000	0.38174	0.1218:0.0667:0.0:0.8116	8.015	0.29537	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	34	chr1	231019885	.	T	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=707;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.452;SOR=0.919	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr1	231206749	231206749	T	C	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon7:c.T1778C:p.V593A,TRIM67:NM_001300889:exon9:c.T1592C:p.V531A	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0214828593189	.	.	8.399e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs754140639	5.484e-06	6.156e-06	0	1.103e-05	7.014e-05	2.36e-06	1.71e-06	3.015e-05	2.051e-05	0	0	0	0	0	0	9.003e-07	1.659e-05	7.014e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.429	0.09572	T	0.172	0.30241	T	0.03	0.20002	B	0.065	0.27321	B	0.019363	0.27272	N	0.368747	0.870955	0.35562	D	0.805	0.20218	L	-0.79	0.73739	T	-0.91	0.24460	N	0.582	0.70088	-0.7914	0.55648	T	0.223	0.58716	T	10	0.26076698	0.43529	T	0.021483	0.44254	T	0.148	0.39182	0.527	0.63263	0.187035705434	0.18338	0.27355662827017657	0.27268	0.708055894707	0.61527	0.758804500103	0.75752	T	0.012171	0.22134	T	-0.169309	0.25339	T	-0.380347	0.35682	T	0.160813419733019	0.17931	T	0.755224	0.37818	T	0.07258207	0.16157	0.07564	0.16671	0.07258207	0.16156	0.07564	0.16671	-6.005	0.46372	T	.	.	0.101	0.31482	B	.;.;.	.;.;.	3.911685	0.57044	23.8	0.79482883411024685	0.12762	0.96157	0.67794	D	AEFDBI	0.853781	0.77076	D	-0.281199296099561	0.29875	1.660633	-0.128393364182046	0.34251	1.968088	0.999992274215425	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	4.37	0.51830	7.895000	0.85911	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0709:0.0:0.9291	11.419	0.49214	884	0.28482	Fibronectin type III|B30.2/SPRY domain|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|B30.2/SPRY domain|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	149	chr1	231206749	.	T	C	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=776;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.68;SOR=0.623	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1174	18	0	1	0
chr1	232807020	232807020	A	G	exonic	MAP10	.	nonsynonymous SNV	MAP10:NM_019090:exon1:c.A1571G:p.Y524C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.014110733292	.	.	4.36e-05	0	0.0004	0	0	0	0	6.377e-05	3.23e-05	5	154602	rs770002922	2.054e-05	2.052e-05	1.907e-05	2.202e-05	0.0009	1.457e-05	1.264e-05	0.0003	0.0002	0	0.0002	0	0	0	0.0009	8.097e-06	6.629e-05	5.815e-05	7.879e-05	7.874e-05	1.285e-05	0.0001	0.0019	4.493e-05	3.51e-05	0.0010	0.0007	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0019	0.006	0.61437	D	0.01	0.65728	D	.	.	.	.	.	.	0.003012	0.35573	U	0.000000	0.834239	0.34965	D	.	.	.	.	.	.	-5.14	0.83292	D	0.349	0.39052	-0.5200	0.67914	T	0.248	0.61774	T	9	0.17531982	0.32457	T	0.014111	0.34004	T	0.095	0.27398	.	.	0.212008924253	0.20833	0.1645376831000185	0.16373	0.630942795977	0.57066	0.446366250515	0.31448	T	.	.	.	-0.228883	0.16797	T	-0.273064	0.47510	T	0.441615104675293	0.30489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38764	B	.	.	2.312377	0.29604	18.17	0.99717065250837167	0.81773	0.43852	0.27189	N	AEFBCI	0.163588	0.28989	N	0.237721366388579	0.53034	3.474317	0.132953316568795	0.46245	2.873637	0.999798152119126	0.43153	0.608746	0.35421	0	0.627608	0.54475	0	0.536957	0.11973	0	0.605231	0.38476	0	.	.	6.08	3.61	0.40494	1.217000	0.32059	1.749000	0.28460	0.691000	0.84096	0.450000	0.26566	0.079000	0.22353	0.433000	0.27516	0.6675:0.1267:0.0687:0.1372	3.965	0.08920	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1468.33	35	chr1	232807020	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.81;DP=803;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.055;SOR=1.034	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	234446970	234446970	T	A	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon12:c.A1967T:p.K656M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0218534908313	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749702222	8.217e-06	8.209e-06	8.176e-06	8.259e-06	0.0001	4.38e-06	3.46e-06	8.018e-05	6.252e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.014	0.62352	D	0.981	0.59675	D	0.747	0.55931	P	0.161925	0.17636	N	0.625755	0.536433	0.32018	D	2.33	0.66821	M	1.05	0.39990	T	-1.86	0.43524	N	0.455	0.49237	-0.7214	0.59394	T	0.145	0.46914	T	10	0.28472185	0.46054	T	0.021853	0.44673	T	0.112	0.31546	0.287	0.24601	0.224531998449	0.22054	0.33445424963519843	0.33358	0.269621044273	0.29486	0.343456417322	0.16954	T	0.013684	0.11790	T	-0.246302	0.14557	T	-0.354903	0.38643	T	0.690131008625031	0.40254	D	0.723028	0.33655	T	0.119412884	0.28118	0.07776376	0.17352	0.119412884	0.28117	0.07776376	0.17352	-4.894	0.35667	T	.	.	0.179	0.39012	B	.	.	3.820472	0.55160	23.6	0.99377652398402416	0.61715	0.88287	0.48147	D	AEFGBI	0.090702	0.18377	N	0.197886657781594	0.51097	3.293767	0.135279186258034	0.46365	2.883821	9.24030424470333E-4	0.08013	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.733575	0.97253	0	.	.	5.44	3.1	0.34780	0.539000	0.22885	1.793000	0.28816	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.786000	0.37147	0.0:0.1886:0.0:0.8114	7.616	0.27323	921	0.19240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	43	chr1	234446970	.	T	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=766;ExcessHet=0;FS=2.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.36;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr1	235450235	235450235	C	T	exonic	B3GALNT2	.	nonsynonymous SNV	B3GALNT2:NM_152490:exon12:c.G1474A:p.G492S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, Autosomal recessive	431	1090	1	0	0	1	0.000458505	.	.	.	627436	Inborn_genetic_diseases|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0483030077994	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs772910525	4.036e-05	4.036e-05	4.084e-05	3.988e-05	0.0003	3.179e-05	2.91e-05	0.0002	0.0001	0	0.0003	0	5.038e-05	3.744e-05	0	3.597e-05	1.656e-05	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0011	0.0009	0	0	0.0016	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	N	0.048396	1	0.81001	D	2.39	0.68882	M	0.24	0.59583	T	-2.55	0.55181	D	0.314	0.35408	-0.3431	0.73753	T	0.354	0.71720	T	10	0.37178642	0.53531	T	0.048303	0.63314	D	0.228	0.52768	.	.	0.671345282208	0.66856	0.8588521848283246	0.85848	0.251185137264	0.27696	0.434322297573	0.29801	T	0.274212	0.64669	T	-0.230336	0.16604	T	-0.25812	0.49011	T	0.270329954457315	0.23762	T	.	.	.	0.4943674	0.66762	0.37197918	0.62416	0.4943674	0.66763	0.37197918	0.62416	-5.634	0.43102	T	.	.	0.111	0.21541	B	.	.	3.538852	0.49694	22.8	0.9972508779899002	0.82336	0.98205	0.80520	D	AEFBI	0.611416	0.59987	D	0.296117562359086	0.55952	3.759302	0.151828156709862	0.47240	2.957147	0.999999992107503	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.34	4.43	0.52967	4.463000	0.59863	2.283000	0.31910	0.599000	0.40250	0.998000	0.41325	0.938000	0.28711	0.022000	0.11911	0.0:0.9271:0.0:0.0729	14.065	0.64350	356	0.85138	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	33	chr1	235450235	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.36;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	235791905	235791905	C	T	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon12:c.G4337A:p.R1446Q,LYST:NM_001301365:exon12:c.G4337A:p.R1446Q	Chediak-Higashi syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	279957	not_specified|Chédiak-Higashi_syndrome|LYST-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	0.00795417579078	0.0010	0.00179712	0.0003	0.0035	8.639e-05	0	0	4.495e-05	0	0	0.0003493	54	154602	rs111722949	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0048	0.0046	0.0055	0.0001	0	0	0	0.0019	1.349e-05	0.0004	1.159e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0041	0.0039	0.0046	0	0.0004	0	0	0	0	2.94e-05	0.0014	0	0.693	0.04264	T	0.54	0.09760	T	0.001	0.07471	B	0.001	0.04355	B	0.811968	0.09244	N	0.930000	1	0.81001	D	0.02	0.07987	N	0.18	0.60361	T	-0.33	0.12472	N	0.087	0.06454	-1.0567	0.12595	T	0.060	0.25163	T	10	0.007049799	0.00160	T	0.007954	0.21084	T	0.078	0.22779	.	.	0.35421846163	0.35036	0.2228987763141402	0.22204	.	.	0.197378903627	0.00385	T	0.046931	0.27572	T	-0.589043	0.00170	T	-0.619734	0.11206	T	0.0230501865083003	0.01030	T	0.863614	0.55989	D	0.03526551	0.04117	0.037567772	0.03437	0.03526551	0.04116	0.037567772	0.03437	-3.242	0.13000	T	0.060143045475285636	0.01631	0.071	0.03698	B	.	.	1.397052	0.18105	13.55	0.97547101452488405	0.34544	0.60249	0.31142	D	AEFDBI	0.067415	0.13251	N	-0.604332417052815	0.18812	0.9797584	-0.37168532355833	0.25845	1.42384	0.0089568137480181	0.11771	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.76	2.5	0.29355	2.885000	0.48269	0.674000	0.20619	0.599000	0.40250	1.000000	0.71638	0.656000	0.25990	0.882000	0.42233	0.0:0.289:0.0:0.711	6.321	0.20421	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1447.33	33	chr1	235791905	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=753;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.834;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr1	235806228	235806228	T	G	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon6:c.A2908C:p.I970L,LYST:NM_001301365:exon6:c.A2908C:p.I970L	Chediak-Higashi syndrome, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	281455	Chédiak-Higashi_syndrome|not_provided|Autoinflammatory_syndrome	MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	.	.	0.00239617	0.0018	0	8.66e-05	0	0	0	0.0022	0.0128	0.0015394	238	154602	rs539146732	0.0008	0.0008	0.0004	0.0012	0.0127	0.0008	0.0007	0.0121	0.0118	0.0002	0	0	7.559e-05	0	0.0005	6.295e-06	0.0007	0.0127	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0096	0.0087	2.407e-05	0	0	0	0	0	0	0	0	0.0120	0.342	0.12632	T	0.202	0.27503	T	0.002	0.09854	B	0.005	0.11217	B	0.003950	0.34294	N	0.351796	0.639331	0.34567	D	1.935	0.51832	L	0.01	0.62459	T	-0.73	0.20576	N	0.251	0.28381	-1.0137	0.25752	T	0.112	0.40099	T	10	0.008667737	0.00196	T	.	.	.	0.045	0.12272	0.388	0.40951	0.371749281113	0.36790	0.32245937565489874	0.32158	0.0771124268482	0.08663	0.406096100807	0.25916	T	0.08072	0.36429	T	-0.441636	0.01265	T	-0.396125	0.33835	T	0.0367141560000713	0.03105	T	0.740126	0.35895	T	0.1109783	0.26229	0.06712312	0.13842	0.10566528	0.24982	0.07858819	0.17616	-1.199	0.01249	T	0.15250481438970478	0.18072	0.127	0.27039	B	.;.	.;.	2.111193	0.26865	17.27	0.93577659375608391	0.23422	0.86489	0.45780	D	AEFDBIJ	0.190495	0.31772	N	-0.413881920941514	0.24982	1.352839	-0.233779997560259	0.30335	1.707054	0.00813298355094687	0.11617	0.562547	0.31514	0	0.588015	0.36545	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.7	3.33	0.37245	0.733000	0.25754	0.636000	0.20274	0.665000	0.62972	1.000000	0.71638	0.993000	0.31925	1.000000	0.97212	0.1313:0.0724:0.2724:0.5239	3.107	0.05962	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2682.33	34	chr1	235806228	.	T	G	2682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.687;DP=795;ExcessHet=0;FS=2.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.354;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	18	0	1	0
chr1	236013477	236013477	T	G	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon11:c.A2338C:p.T780P	.	419	1092	10	0	1	11	0.00455789	.	.	.	696592	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.434	0.0845787781311	0.0017	0.00219649	0.0025	0.0003	0.0010	0	0.0005	0.0031	0.0022	0.0044	0.0024838	384	154602	rs148665567	0.0021	0.0021	0.0020	0.0022	0.0054	0.0021	0.0020	0.0041	0.0040	0.0002	0.0011	0.0087	0	0.0010	0.0054	0.0020	0.0023	0.0045	0.0014	0.0014	0.0016	0.0012	0.0050	0.0013	0.0012	0.0034	0.0029	0.0002	0	0.0014	0.0060	0	0.0006	0.0034	0.0019	0.0014	0.0050	0.249	0.17183	T	0.259	0.23097	T	0.007	0.14184	B	0.008	0.13708	B	0.000004	0.62929	D	0.140081	0.997972	0.81001	D	2.845	0.82663	M	-2.27	0.87433	D	-2.05	0.47008	N	0.343	0.38438	-0.1072	0.79934	T	0.589	0.85298	D	10	0.011613786	0.00253	T	0.084579	0.74356	D	0.434	0.73951	.	.	0.821476675837	0.81979	0.5624639663669474	0.56173	0.298502774148	0.32228	0.246935874224	0.03452	T	0.236662	0.60418	T	-0.222869	0.17603	T	-0.0926461	0.63962	T	0.0335566145425631	0.02563	T	0.80372	0.45098	T	0.26959804	0.50031	0.28830191	0.54846	0.3051688	0.53364	0.26970464	0.52853	-12.057	0.85127	D	0.4782036741901466	0.55736	0.134	0.29088	B	.	.	2.177875	0.27758	17.57	0.98578106603763294	0.43206	0.58100	0.30551	D	AEFDBI	0.483191	0.52373	N	-0.239030793035549	0.31543	1.769794	-0.155097484269544	0.33213	1.89752	0.997008592699608	0.35191	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	4.79	0.60909	0.790000	0.26562	1.158000	0.24531	0.665000	0.62972	0.849000	0.30428	0.907000	0.28067	0.941000	0.48210	0.2503:0.0:0.0:0.7497	10.870	0.46082	458	0.78890	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1216.33	35	chr1	236013477	.	T	G	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.544;DP=711;ExcessHet=0;FS=1.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.571;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.1053	5515.43	33	chr1	236017198	.	C	T	5515.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.22;DP=1025;ExcessHet=0.7564;FS=1.101;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.766;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	15	0	4	0
chr1	236017204	236017204	G	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.C2198A:p.T733N	.	423	1092	7	0	0	7	0.00319489	.	.	.	732285	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.488	0.142580581109	0.0020	0.000199681	0.0026	0.0004	0.0010	0	0.0048	0.0035	0.0066	0.0019	0.0024838	384	154602	rs141204959	0.0028	0.0028	0.0029	0.0028	0.0031	0.0028	0.0027	0.0030	0.0030	0.0005	0.0008	3.826e-05	2.519e-05	0.0063	0.0017	0.0031	0.0022	0.0020	0.0023	0.0023	0.0022	0.0025	0.0039	0.0021	0.0021	0.0035	0.0034	0.0004	0.0175	0.0004	0	0	0.0041	0	0.0039	0.0009	0.0019	0.01	0.56456	D	0.025	0.56192	D	0.979	0.59044	D	0.875	0.62107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-3.09	0.92613	D	-1.76	0.41618	N	0.605	0.62273	0.610	0.92032	D	0.737	0.91019	D	10	0.023621142	0.00624	T	0.142581	0.82495	D	0.488	0.77592	.	.	0.925069995079	0.92430	0.7210160555664545	0.72044	0.852806470828	0.68627	0.449434041977	0.31867	T	0.35152	0.71908	T	-0.180027	0.23730	T	-0.0295913	0.68395	D	0.0360478000499672	0.02990	T	0.923508	0.72088	D	0.37735185	0.59124	0.36034432	0.61477	0.35765234	0.57657	0.36087397	0.61521	-9.619	0.71597	D	0.4640943000248189	0.54576	0.189	0.40650	B	.	.	4.497421	0.70306	25.5	0.9946751821160964	0.66154	0.95739	0.65948	D	AEFBCI	0.930212	0.91717	D	0.583722486438857	0.72159	5.762016	0.664978981035636	0.79731	7.144608	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.308000	0.65557	8.515000	0.77403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	952.33	33	chr1	236017204	.	G	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.456;DP=859;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.38;SOR=0.81	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	18	0	1	0
chr1	236038223	236038223	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon5:c.C1166T:p.T389M	.	417	1078	26	1	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.314043215454	0.0003	0.000599042	0.0009	0	8.696e-05	0.0001	0	0.0005	0.0033	0.0042	0.000718	111	154602	rs142155830	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0043	0.0038	0	0.0004	7.656e-05	2.521e-05	1.874e-05	0.0059	0.0002	0.0010	0.0042	0.0003	0.0003	0.0004	0.0003	0.0048	0.0003	0.0002	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999373	0.46831	D	2.125	0.59049	M	-2.3	0.87671	D	-4.43	0.77554	D	0.693	0.69825	0.660	0.92675	D	0.769	0.92139	D	10	0.036665767	0.01978	T	0.314043	0.91274	D	0.659	0.87234	.	.	0.954265860692	0.95378	0.7883054061803797	0.78782	0.740464818204	0.63234	0.451162755489	0.32103	T	0.563417	0.85424	D	-0.0926796	0.37632	T	0.0940882	0.76517	D	0.0978770405054092	0.12121	T	0.938406	0.76842	D	0.582062	0.71721	0.5065998	0.71483	0.582062	0.71722	0.5065998	0.71484	-10.476	0.79195	D	0.5665382804887262	0.63396	0.241	0.47492	B	.;.	.;.	5.039584	0.83867	28.2	0.99896537898111659	0.96971	0.98699	0.85733	D	AEFDBI	0.886460	0.81786	D	0.750540878720996	0.82940	7.888642	0.748985187248683	0.86081	8.776579	0.997538186573651	0.35727	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.279000	0.72647	9.848000	0.81969	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.180	0.93603	479	0.77495	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1356.33	113	chr1	236038223	.	G	A	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=739;ExcessHet=0;FS=2.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.196;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr1	236042113	236042113	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon4:c.C932T:p.T311M	.	.	.	.	.	.	.	.	.	.	.	3361930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0909937636566	.	0.000399361	0.0001	9.63e-05	0	0.0014	0	2.999e-05	0	0.0001	0.0001294	20	154602	rs202199892	0.0001	0.0001	0.0001	0.0001	0.0013	9.603e-05	9.082e-05	0.0010	0.0009	5.974e-05	0	0	0.0013	0	0	8.273e-05	0.0001	9.275e-05	8.539e-05	8.531e-05	2.57e-05	0.0001	0.0014	4.956e-05	3.961e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	7.349e-05	0.0005	0	0.092	0.37326	T	0.113	0.38160	T	0.992	0.64738	D	0.752	0.56092	P	0.022340	0.01571	N	2.075870	1	0.08975	N	2.2	0.62015	M	-2.39	0.88377	D	-0.75	0.21003	N	0.371	0.41261	-0.3607	0.73242	T	0.702	0.89749	D	10	0.03138846	0.01274	T	0.090994	0.75624	D	0.288	0.60691	.	.	0.828379590711	0.82675	0.40058197217904007	0.39973	0.243833454048	0.26889	0.342543840408	0.16819	T	0.06221	0.31857	T	-0.31935	0.06951	T	-0.289276	0.45849	T	0.0696443244814873	0.08601	T	0.663534	0.27241	T	0.016070353	0.00174	0.031098526	0.01652	0.016070353	0.00174	0.031098526	0.01652	-6.763	0.52283	T	0.15872178712488938	0.19251	0.086	0.10545	B	.;.	.;.	1.652749	0.21087	15.04	0.98630468838619834	0.43906	0.07842	0.13835	N	AEFBI	0.100966	0.20290	N	-0.389797175534908	0.25832	1.405204	-0.559618694863696	0.20550	1.107716	2.34160340560943E-4	0.06095	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	2.14	0.26518	0.464000	0.21700	1.002000	0.23268	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0799:0.0:0.6136:0.3065	7.062	0.24312	484	0.77165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1588.33	33	chr1	236042113	.	G	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=737;ExcessHet=0;FS=6.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.333;SOR=1.236	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1153	18	0	1	0
chr1	236142638	236142638	C	T	exonic	GPR137B	.	nonsynonymous SNV	GPR137B:NM_003272:exon1:c.C16T:p.P6S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0163597607441	.	0.000798722	0.0039	0	0	0	0	0	0	0.0053	0.0001552	24	154602	rs539406117	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0020	0.0019	3.52e-05	0	0	2.99e-05	0	0.0009	8.115e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	8.776e-05	0.0014	0.0011	0	0	6.558e-05	0	0	0	0	0.0001	0.0010	0.0025	0.054	0.38633	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.535095	0.11596	N	0.720289	1	0.08975	N	1.5	0.37844	L	1.04	0.40218	T	-0.44	0.14588	N	0.053	0.02462	-1.0233	0.22638	T	0.059	0.24575	T	10	0.0050087273	0.00108	T	0.01636	0.37579	T	0.023	0.04649	0.253	0.19223	0.0762999501168	0.06990	0.4420364352377306	0.44120	1.00411457125	0.74521	0.768823385239	0.77249	T	0.017084	0.13999	T	-0.62321	0.00105	T	-0.674142	0.07345	T	0.0227066647893203	0.00989	T	0.436356	0.11970	T	0.03001947	0.02593	0.052863203	0.08793	0.03001947	0.02593	0.052863203	0.08792	-3.931	0.22768	T	.	.	0.071	0.04002	B	.	.	1.278290	0.16779	12.76	0.96289857927888323	0.29311	0.14210	0.18282	N	AEFDGBHCI	0.076735	0.15444	N	-1.35046655135678	0.03120	0.1388649	-1.4034008044774	0.03218	0.1496476	0.999999999788651	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	3.56	-1.04	0.09555	0.333000	0.19512	-0.487000	0.08883	-0.468000	0.05098	0.067000	0.21986	0.000000	0.08366	0.513000	0.29313	0.1598:0.2823:0.3154:0.2426	1.002	0.01387	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001943	0.000000	0.000000	0.000000	0.000000	0.000000	0.010870	0.000000	0.02632	375.33	35	chr1	236142638	.	C	T	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.328;DP=614;ExcessHet=0;FS=2.231;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.232;SOR=0.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	18	0	1	0
chr1	236205252	236205252	-	AAGA	splicing	GPR137B	NM_003272:exon6:c.1091+2->AAGA	.	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00279553	0.0084	0.0013	0.0039	0	0.0044	0.0113	0.0044	0.0110	0.0002135	33	154602	rs565202568	0.0090	0.0091	0.0088	0.0093	0.0108	0.0089	0.0089	0.0103	0.0100	0.0016	0.0038	0.0056	2.521e-05	0.0055	0.0038	0.0100	0.0079	0.0108	0.0068	0.0068	0.0068	0.0068	0.0111	0.0064	0.0063	0.0104	0.0102	0.0014	0.0099	0.0059	0.0061	0	0.0042	0	0.0111	0.0019	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3238.29	40	chr1	236205252	.	T	TAAGA	3238.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.79;DP=858;ExcessHet=0;FS=4.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.5;ReadPosRankSum=-1.391;SOR=0.426	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	18	0	1	0
chr1	236803473	236803473	A	G	exonic	MTR	.	nonsynonymous SNV	MTR:NM_000254:exon2:c.A80G:p.Q27R,MTR:NM_001291939:exon2:c.A80G:p.Q27R	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1404926	Methylcobalamin_deficiency_type_cblG	MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00760383036229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039659576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02021	T	0.814	0.03898	T	0.0	0.02946	B	0.0	0.01387	B	0.344447	0.13912	N	0.691702	0.999716	0.48481	D	-0.125	0.04555	N	1.34	0.34841	T	-0.16	0.11728	N	0.074	0.04790	-1.0378	0.17985	T	0.035	0.15160	T	10	0.029251128	0.01052	T	0.007604	0.20166	T	0.053	0.14996	0.263	0.20788	0.143124449307	0.13826	0.41828153849886857	0.41744	0.436091485384	0.43710	0.208011746407	0.00729	T	0.09631	0.39799	T	-0.332057	0.05957	T	-0.714754	0.05053	T	0.0300689339637756	0.02001	T	0.721228	0.33447	T	0.08327408	0.19223	0.05444965	0.09369	0.08327408	0.19223	0.05444965	0.09368	-4.094	0.26141	T	0.0819555803140636	0.04284	0.073	0.07412	B	.;.	.;.	-1.858616	0.00138	0.002	0.37302360178970945	0.02450	0.03519	0.08702	N	AEFBI	0.039799	0.05830	N	-1.71251584020415	0.00798	0.03449532	-1.74430864442175	0.00955	0.04275578	0.999893779186521	0.45129	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.95	-8.26	0.00895	-0.592000	0.05841	-6.386000	0.01413	-1.600000	0.00894	0.035000	0.20724	0.000000	0.08366	0.854000	0.40426	0.7208:0.0:0.2792:0.0	17.784	0.88442	724	0.55085	.;Homocysteine-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2504.33	35	chr1	236803473	.	A	G	2504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.043;DP=866;ExcessHet=0;FS=4.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.92;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1253	18	0	1	0
chr1	237550673	237550673	G	T	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon27:c.G3196T:p.A1066S	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.169283851854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.422e-06	2.052e-06	1.405e-06	1.44e-06	2.514e-05	2.4e-07	9e-08	4.17e-06	1.56e-06	0	0	0	0	0	0	0	0	2.514e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	.	.	.	0.145	0.27759	B	0.111	0.31539	B	0.000058	0.53742	U	0.000000	0.996362	0.43162	D	-0.46	0.02758	N	-2.82	0.91192	D	-0.95	0.25332	N	0.537	0.56489	-0.1789	0.78208	T	0.510	0.81580	D	10	0.29017356	0.46598	T	0.169284	0.84716	D	0.335	0.65718	0.45	0.51121	0.78724523546	0.78527	0.39698793874963356	0.39613	0.866143613972	0.69213	0.644794344902	0.59245	T	0.380095	0.74271	T	0.0452542	0.57731	T	-0.172772	0.57190	T	0.946088671684265	0.62396	D	0.844016	0.52137	T	0.11549932	0.27255	0.1262546	0.30410	0.11549932	0.27254	0.1262546	0.30409	-5.44	0.41303	T	0.12484149308500965	0.12315	0.152	0.33550	B	.;.	.;.	3.271816	0.44790	22.0	0.98943810730752502	0.48997	0.92666	0.56251	D	AEFBI	0.600385	0.59303	D	-0.17835508541025	0.34036	1.937998	-0.00360588457217916	0.39554	2.346877	0.0413174984080965	0.14479	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	2.741000	0.47100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.478000	0.28520	0.0:0.149:0.8509:0.0	14.244	0.65522	940	0.13648	B30.2/SPRY domain;B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1842.33	36	chr1	237550673	.	G	T	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.616;DP=788;ExcessHet=0;FS=1.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.568;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1324	18	0	1	0
chr1	237614401	237614401	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon37:c.G5273A:p.R1758K	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0133845195111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	.	.	.	0.011	0.15914	B	0.007	0.12992	B	0.000005	0.62929	D	0.000000	0.865277	0.35461	D	1.25	0.31749	L	-0.63	0.72011	T	-0.83	0.22727	N	0.301	0.34012	-0.8376	0.52806	T	0.217	0.57876	T	10	0.23953012	0.41095	T	0.013385	0.32738	T	0.070	0.20419	0.32	0.29902	0.63192949321	0.62891	0.7635565850291284	0.76303	0.524796132431	0.50162	0.797018110752	0.81510	T	0.434896	0.78182	T	-0.0213262	0.48664	T	-0.26841	0.47980	T	0.617944061756134	0.37122	D	0.816918	0.47330	T	0.211139	0.43431	0.18243787	0.41171	0.211139	0.43431	0.18243787	0.41171	-4.19	0.26607	T	0.105008340062862	0.08276	0.136	0.29615	B	.;.	.;.	2.934696	0.38996	20.9	0.98332480896686902	0.40358	0.94541	0.61500	D	AEFBI	0.739548	0.68407	D	-0.00970799985710741	0.41416	2.476789	0.194213519508089	0.49530	3.155019	0.844241361934401	0.24923	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	4.219000	0.58357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0757:0.0:0.9243:0.0	12.581	0.55740	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2598.33	34	chr1	237614401	.	G	A	2598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=855;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.286;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	18	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	458.79	71	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	458.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.812;DP=1180;ExcessHet=0.3672;FS=2.692;InbreedingCoeff=-0.0109;MLEAC=3;MLEAF=0.079;MQ=59.24;MQRankSum=0;QD=5.21;ReadPosRankSum=-0.566;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	16	0	3	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del,FMN2:NM_001305424:exon6:c.2956_3021del:p.A1087_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.79	108	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	487.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=1071;ExcessHet=0.119;FS=1.057;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.42;MQRankSum=2.27;QD=7.17;ReadPosRankSum=3.17;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	17	0	2	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	2068.68	101	chr1	240207775	.	C	*	2068.68	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.766;DP=999;ExcessHet=0.9858;FS=1.859;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.115;MQ=52.21;MQRankSum=1.95;QD=11.62;ReadPosRankSum=1.79;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	11	0	2	6
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2773.08	86	chr1	240207785	.	A	*	2773.08	.	AC=2;AF=0.083;AN=24;BaseQRankSum=2.17;DP=919;ExcessHet=1.1622;FS=5.058;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.125;MQ=51.72;MQRankSum=0.612;QD=14.75;ReadPosRankSum=2.3;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	10	0	2	7
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.2988_2989insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4008224	Intellectual_disability,_autosomal_recessive_47	MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1279.48	83	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	1279.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.459;DP=884;ExcessHet=0.3672;FS=0.686;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=50.91;MQRankSum=1.45;QD=10.94;ReadPosRankSum=-0.302;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	18	0	1	0
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1279.48	83	chr1	240207788	.	T	*	1279.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.459;DP=884;ExcessHet=0.3672;FS=0.686;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=50.91;MQRankSum=1.45;QD=10.94;ReadPosRankSum=-0.302;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	17	0	2	0
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	578.26	74	chr1	240207797	.	G	*	578.26	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.636;DP=794;ExcessHet=0.4742;FS=2.654;InbreedingCoeff=0.0863;MLEAC=3;MLEAF=0.115;MQ=52.11;MQRankSum=-0.042;QD=5.16;ReadPosRankSum=1.76;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	11	0	2	6
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	536.21	72	chr1	240207800	.	C	*	536.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.523;DP=781;ExcessHet=0.4742;FS=1.678;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=51.92;MQRankSum=-0.202;QD=4.83;ReadPosRankSum=1.3;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	11	0	2	6
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	4214.29	58	chr1	240207806	.	C	*	4214.29	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.691;DP=689;ExcessHet=0.2912;FS=10.515;InbreedingCoeff=0.113;MLEAC=3;MLEAF=0.136;MQ=50.51;MQRankSum=1.82;QD=15.32;ReadPosRankSum=0.504;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:46:99:.:.:714,765,1270:.	9	0	2	8
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	3024.11	23	chr1	240207812	.	G	*	3024.11	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.034;DP=568;ExcessHet=0.0032;FS=0.609;InbreedingCoeff=0.4238;MLEAC=1;MLEAF=0.036;MQ=49.03;MQRankSum=-0.018;QD=19.51;ReadPosRankSum=-0.081;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1105:.	13	0	1	5
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	1182.34	21	chr1	240207818	.	A	*	1182.34	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.47;DP=546;ExcessHet=0.5115;FS=2.74;InbreedingCoeff=-0.0827;MLEAC=1;MLEAF=0.038;MQ=46.34;MQRankSum=0;QD=12.58;ReadPosRankSum=0.216;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1105:.	12	0	1	6
chr1	240207821	240207821	-	CCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.3009_3010insCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.3021_3022insCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.791e-05	0	0	0	0	3.05e-05	0	0	.	.	.	.	0.0004	0.0003	0.0004	0.0005	0.0015	0.0003	0.0003	0.0004	0.0003	0.0007	0	0.0009	0.0001	0.0012	0.0015	0.0003	0.0004	0.0007	0	9.846e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	916.56	21	chr1	240207821	.	T	TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	916.56	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.6;DP=536;ExcessHet=0.442;FS=0.899;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.038;MQ=47.29;MQRankSum=-0.475;QD=11.32;ReadPosRankSum=-0.195;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1105:.	12	0	1	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	916.56	21	chr1	240207821	.	T	*	916.56	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.6;DP=536;ExcessHet=0.442;FS=0.899;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.038;MQ=47.29;MQRankSum=-0.475;QD=11.32;ReadPosRankSum=-0.195;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1105:.	12	0	1	6
chr1	241517198	241517198	A	G	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon2:c.T251C:p.V84A	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	238263	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0733373669082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878853692	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.598	0.07999	T	0.0	0.02946	B	0.002	0.06944	B	0.042059	0.23883	N	0.482695	0.999999	0.08975	N	0.59	0.15444	N	-5.74	0.99311	D	0.54	0.02764	N	0.07	0.04307	0.530	0.90966	D	0.887	0.96238	D	10	0.12784043	0.24315	T	0.073337	0.71764	D	0.283	0.60100	0.476	0.55342	0.88920406152	0.88811	0.48421379497953804	0.48341	0.339991267064	0.35944	0.357620030642	0.19039	T	0.648748	0.89315	D	0.0261652	0.55212	T	-0.200192	0.54628	T	0.156152829527855	0.17583	T	0.810419	0.46176	T	0.087276205	0.20318	0.06351968	0.12595	0.087276205	0.20317	0.06351968	0.12595	-3.569	0.17410	T	.	.	0.084	0.09723	B	.	.	1.266504	0.16649	12.67	0.96026289301423606	0.28488	0.05111	0.10914	N	AEFBI	0.140688	0.26265	N	-0.687610804125656	0.16374	0.8336489	-0.608945177679305	0.19263	1.032736	0.999844600349635	0.43971	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.75	2.23	0.27189	0.695000	0.25205	1.027000	0.23450	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.992000	0.67800	0.754:0.0:0.246:0.0	7.997	0.29434	952	0.10565	Fumarate lyase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1360.33	34	chr1	241517198	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.704;DP=763;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.226;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	241634250	241634250	T	C	exonic	CHML	.	nonsynonymous SNV	CHML:NM_001821:exon1:c.A1517G:p.Y506C,CHML:NM_001381853:exon2:c.A1517G:p.Y506C,CHML:NM_001381854:exon2:c.A1517G:p.Y506C	.	.	.	.	.	.	.	.	.	.	.	3653168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.769	0.293203099161	.	0.000199681	2.476e-05	0.0002	8.729e-05	0	0	0	0	0	2.59e-05	4	154602	rs561929720	1.368e-05	1.368e-05	1.225e-05	1.513e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	5.975e-05	2.237e-05	0	5.038e-05	1.873e-05	0.0003	8.994e-06	1.656e-05	1.159e-05	3.94e-05	3.937e-05	3.856e-05	4.028e-05	0.0001	1.715e-05	1.129e-05	6.268e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0	0.07	0.35349	T	0.032	0.53426	D	0.627	0.40110	P	0.544	0.49014	P	0.001039	0.40562	N	0.218373	1	0.81001	D	2.71	0.79292	M	-2.73	0.90679	D	-6.3	0.90771	D	0.455	0.49237	0.388	0.88919	D	0.710	0.90017	D	9	0.47581998	0.60136	T	0.293203	0.90634	D	0.769	0.92212	0.756	0.88567	0.950647530627	0.95012	0.795560179930133	0.79509	0.109782325382	0.12377	0.531728565693	0.43278	T	0.671128	0.90240	D	-0.00672577	0.50723	T	0.0319975	0.72408	D	0.259040545129927	0.23273	T	0.887611	0.61581	D	0.32286388	0.54880	0.31271243	0.57272	0.32286388	0.54880	0.31271243	0.57271	-9.159	0.68714	D	.	.	0.143	0.31431	B	.	.	3.559449	0.50079	22.9	0.99528174702492378	0.69715	0.65438	0.32737	D	AEFDGBI	0.094467	0.19100	N	0.146264678114236	0.48636	3.073383	0.174862063256022	0.48474	3.062805	0.999997028165979	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	3.95	0.44952	-0.195000	0.09546	3.281000	0.37231	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	0.983000	0.59808	0.0:0.0844:0.0:0.9156	9.412	0.37661	890	0.26919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	33	chr1	241634250	.	T	C	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.755;DP=791;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.51;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	1	0
chr1	241766288	241766288	C	T	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon16:c.C2018T:p.A673V	.	.	.	.	.	.	.	.	.	.	.	2754525	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.0124773695242	0.0005	0.000399361	0.0001	0.0013	0.0002	0	0	0	0	0	0.0001229	19	154602	rs145632789	4.447e-05	4.446e-05	6.398e-05	2.475e-05	0.0014	3.575e-05	3.257e-05	0.0011	0.0010	0.0014	0.0002	0	0	0	0	1.799e-06	0.0001	0	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0002	0	0	0	0	0	0.0005	0	0.217	0.19157	T	0.105	0.58613	T	0.107	0.26081	B	0.079	0.28749	B	0.927126	0.07512	N	1.035820	0.994752	0.23450	N	0.895	0.22405	L	0.07	0.61677	T	-2.8	0.59226	D	0.205	0.22742	-0.9443	0.41927	T	0.159	0.49313	T	10	0.013890326	0.00293	T	0.012477	0.31090	T	0.151	0.39764	.	.	0.0611884634855	0.05136	0.5353980447279344	0.53464	0.0777821467328	0.08748	0.313370943069	0.12417	T	0.083605	0.37092	T	-0.418798	0.01741	T	-0.398978	0.33502	T	0.0197413146968783	0.00676	T	0.668933	0.27772	T	0.04672158	0.07867	0.106038414	0.25501	0.04672158	0.07867	0.106038414	0.25500	-6.813	0.52656	T	.	.	0.087	0.21163	B	.;.;.	.;.;.	0.269617	0.06474	2.950	0.83259432452564197	0.14628	0.05506	0.11394	N	AEFI	0.058060	0.10864	N	-0.607987208991156	0.18703	0.9731615	-0.74800429062129	0.15772	0.831114	1.3044934102458E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	0.848	0.18105	-0.241000	0.08958	-1.216000	0.06000	-0.186000	0.09761	0.202000	0.24332	0.000000	0.08366	0.559000	0.30388	0.0:0.6666:0.0:0.3334	8.243	0.30829	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	35	chr1	241766288	.	C	T	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.688;DP=755;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.892;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1408	18	0	1	0
chr1	241860580	241860580	G	A	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon7:c.G820A:p.G274R,EXO1:NM_006027:exon7:c.G820A:p.G274R,EXO1:NM_001319224:exon8:c.G820A:p.G274R,EXO1:NM_130398:exon9:c.G820A:p.G274R	.	425	1092	5	0	0	5	0.00228415	.	.	.	969893	not_provided|Hereditary_breast_ovarian_cancer_syndrome|EXO1-related_disorder	MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.541	0.0598680279414	0.0027	0.000998403	0.0021	0.0009	0.0043	0	0.0005	0.0027	0.0033	0.0002	0.002044	316	154602	rs149397534	0.0024	0.0024	0.0025	0.0023	0.0031	0.0024	0.0023	0.0028	0.0027	0.0008	0.0031	0.0008	0	0.0006	0.0021	0.0029	0.0021	0.0003	0.0019	0.0019	0.0018	0.0019	0.0032	0.0017	0.0016	0.0028	0.0027	0.0005	0	0.0023	0.0006	0	0.0002	0.0171	0.0032	0.0005	0	0.005	0.65419	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.34	0.33385	L	1.51	0.30937	T	-4.87	0.81269	D	0.89	0.89242	-0.9961	0.31001	T	0.154	0.48412	T	10	0.03733033	0.02081	T	0.059868	0.67808	D	0.541	0.80842	0.525	0.62967	0.685419224124	0.68273	0.9532576662729161	0.95309	0.35416259056	0.37199	0.673514485359	0.63339	T	0.486252	0.81282	T	-0.0707252	0.41212	T	0.122267	0.78385	D	0.0455111430794867	0.04695	T	0.922108	0.72088	D	0.8968603	0.91105	0.69633454	0.82119	0.8968603	0.91106	0.69633454	0.82120	-12.404	0.86951	D	.	.	0.793	0.77130	P	.;.;.	.;.;.	5.636445	0.92712	32	0.99938643120357384	0.99698	0.97527	0.75331	D	AEFBCI	0.922560	0.89772	D	0.790130568864765	0.85484	8.589749	0.814329743564782	0.90771	10.56142	0.999999999999944	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	10.003000	0.99689	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.312	0.94184	934	0.15400	Exonuclease-1, H3TH domain;Exonuclease-1, H3TH domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1654.33	33	chr1	241860580	.	G	A	1654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.045;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.294;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	241958270	241958270	C	G	exonic	BECN2	.	nonsynonymous SNV	BECN2:NM_001290693:exon1:c.C504G:p.D168E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.244e-07	2.052e-06	1.753e-06	0	1.085e-06	0	0	.	.	0	0	0	0	0	0	1.085e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.057825506	0.06702	T	.	.	.	.	.	.	.	.	.	0.27479183497739745	0.27392	.	.	.	.	.	0.011085	0.09936	T	.	.	.	.	.	.	.	.	.	0.59644	0.22167	T	0.11828378	0.27871	0.23346823	0.48537	0.11828378	0.27871	0.23346823	0.48536	-1.882	0.02765	T	.	.	0.132	0.28435	B	.	.	0.272404	0.06499	2.978	0.77924432720397407	0.12080	0.05915	0.11868	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.897272608302559	0.25998	0.053691	0.00478	0	0.063388	0.01293	0	0.048193	0.00230	0	0.062806	0.01542	0	0.0760639	0.17615	4.83	-2.44	0.06126	-0.212000	0.09323	-0.845000	0.07201	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.2444:0.2466:0.3412:0.1678	1.447	0.02223	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	57	chr1	241958270	.	C	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.518;DP=1018;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.594;SOR=0.348	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	18	0	1	0
chr1	241996249	241996249	C	T	exonic	MAP1LC3C	.	nonsynonymous SNV	MAP1LC3C:NM_001004343:exon4:c.G358A:p.A120T	.	422	1099	1	0	0	1	0.000454752	.	.	.	3988584	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00838823185212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867743099	4.72e-05	4.788e-05	4.628e-05	4.813e-05	0.0019	3.794e-05	3.476e-05	0.0011	0.0008	0	0	3.826e-05	0	0	0.0019	4.496e-05	4.967e-05	4.637e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	7.237e-05	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	4.41e-05	0	0	0.079	0.33753	T	0.061	0.45530	T	0.078	0.24389	B	0.297	0.40924	B	0.000001	0.84330	N	0.054505	0.999225	0.46379	D	2.54	0.74080	M	0.97	0.42502	T	-3.63	0.69714	D	0.429	0.46835	-0.9068	0.47238	T	0.150	0.47787	T	10	0.300067	0.47556	T	0.008388	0.22206	T	0.126	0.34673	.	.	0.492816438443	0.48917	0.5530296234506175	0.55228	1.10507444367	0.77870	0.419387638569	0.27753	T	0.08506	0.37418	T	-0.138756	0.30089	T	-0.373444	0.36486	T	0.942921102046967	0.61759	D	0.880112	0.59716	D	0.5461293	0.69740	0.39945197	0.64508	0.5461293	0.69741	0.39945197	0.64508	-8.633	0.65306	D	.	.	0.478	0.63585	A	.	.	3.238837	0.44204	21.9	0.99859060908590636	0.93729	0.88597	0.48599	D	AEFDBI	0.508187	0.53818	D	-0.00827810797705368	0.41481	2.481845	0.0260083848515434	0.40926	2.450358	0.999946786694921	0.47345	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.28	0.27583	4.261000	0.58639	-0.125000	0.11680	0.587000	0.30956	1.000000	0.71638	0.002000	0.18203	0.990000	0.65344	0.1573:0.7583:0.0:0.0844	8.137	0.30221	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	33	chr1	241996249	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=724;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.57;SOR=0.492	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	18	0	1	0
chr1	242089925	242089925	A	G	exonic	PLD5	.	nonsynonymous SNV	PLD5:NM_001195812:exon9:c.T916C:p.F306L,PLD5:NM_001195811:exon10:c.T1354C:p.F452L,PLD5:NM_001372062:exon10:c.T1540C:p.F514L,PLD5:NM_001320272:exon11:c.T1264C:p.F422L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00451390054103	0.0013	0.000599042	0.0004	0.0037	0.0002	0	0	5.994e-05	0	0	0.0003234	50	154602	rs138174975	0.0002	0.0002	0.0002	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0005	7.652e-05	0	0	0.0005	3.867e-05	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0011	0.0036	0.0009	0.0009	0.0031	0.0030	0.0036	0	0.0009	0	0	0	0	1.47e-05	0	0	0.463	0.08660	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	0.882638	0.07245	N	1.054610	0.997427	0.23214	N	-0.255	0.03828	N	1.03	0.40469	T	-0.15	0.09297	N	0.054	0.03956	-1.0125	0.26133	T	0.032	0.13898	T	10	0.004786551	0.00101	T	0.004514	0.11094	T	0.025	0.05312	0.265	0.21103	0.168933306366	0.16529	0.4792396560182877	0.47843	0.512863739699	0.49304	0.315144240856	0.12685	T	0.015224	0.12811	T	-0.571094	0.00218	T	-0.594586	0.13270	T	0.010975650656533	0.00158	T	0.572043	0.20399	T	0.050784152	0.09228	0.045518152	0.06144	0.050784152	0.09227	0.045518152	0.06143	-1.874	0.02739	T	.	.	0.240	0.47426	B	.;.;.	.;.;.	1.159055	0.15475	11.88	0.93036229243035062	0.22639	0.93011	0.57101	D	AEFBIJ	0.122577	0.23778	N	-0.664717603713322	0.17033	0.8730542	-0.470895941371624	0.22960	1.249708	3.93042688469783E-5	0.03775	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.92	2.57	0.29928	0.359000	0.19970	1.063000	0.23738	0.756000	0.94297	0.976000	0.34826	0.916000	0.28226	0.923000	0.45890	0.8108:0.0:0.1892:0.0	6.664	0.22219	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2004.33	42	chr1	242089925	.	A	G	2004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=938;ExcessHet=0;FS=2.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.288;SOR=0.526	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr1	243165333	243165333	C	T	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.G2333A:p.R778Q,CEP170:NM_001042405:exon12:c.G2333A:p.R778Q,CEP170:NM_014812:exon13:c.G2627A:p.R876Q	.	465	1044	13	0	0	13	0.00618753	.	.	.	2812905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	.	0.0012	0.000998403	0.0094	0.0008	0.0025	0	0.0021	0.0170	0	0.0008	0.001191	31	26028	rs201082752	0.0047	0.0047	0.0047	0.0046	0.0062	0.0046	0.0045	0.0049	0.0049	0.0006	0.0028	0.0217	5.215e-05	0.0010	0.0062	0.0051	0.0056	0.0007	0.0037	0.0038	0.0041	0.0033	0.0057	0.0035	0.0034	0.0053	0.0051	0.0007	0.0122	0.0021	0.0241	0	0.0006	0.0034	0.0057	0.0053	0.0002	0.02	0.49613	D	0.038	0.57587	D	0.992	0.64738	D	0.544	0.49014	P	0.000580	0.43250	D	0.097805	0.999985	0.54805	D	1.725	0.44537	L	0.8	0.50192	T	-0.89	0.25118	N	0.43	0.50868	-1.0171	0.24657	T	0.140	0.45885	T	10	0.004377544	0.00089	T	.	.	.	0.106	0.30130	.	.	0.440498838766	0.43668	0.3604601734384673	0.35960	.	.	0.411914497614	0.26722	T	0.034287	0.23262	T	-0.316146	0.07219	T	-0.225808	0.52176	T	0.0223936490238348	0.00953	T	.	.	.	0.19007154	0.40576	0.09156249	0.21533	0.19007154	0.40576	0.09156249	0.21532	-6.581	0.51705	T	.	.	0.085	0.22717	B	.;.;.	.;.;.	4.325230	0.66232	24.9	0.99940302455772834	0.99767	0.95758	0.66029	D	AEFGI	0.699047	0.65652	D	0.130979999539312	0.47911	3.010391	0.169251340424862	0.48171	3.03668	0.999999759375658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	4.575000	0.60619	4.042000	0.41433	0.594000	0.32500	0.996000	0.39380	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	17.590	0.87893	798	0.45050	CEP170, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006386	0.010000	0.005540	0.000000	0.000000	0.008929	0.008197	0.008850	0.02632	606.33	34	chr1	243165333	.	C	T	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.59;DP=828;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.93;MQRankSum=0.858;QD=10.64;ReadPosRankSum=0.129;SOR=1.341	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	385.43	34	chr1	243330649	.	T	C	385.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.858;DP=1567;ExcessHet=0.7564;FS=118.041;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.5;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1385:.	15	0	4	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	107.33	34	chr1	243330650	.	G	A	107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.186;DP=1014;ExcessHet=0;FS=102.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1385:.	18	0	1	0
chr1	243341076	243341076	C	G	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon11:c.C965G:p.A322G,SDCCAG8:NM_006642:exon11:c.C1259G:p.A420G,SDCCAG8:NM_001350247:exon12:c.C356G:p.A119G,SDCCAG8:NM_001350248:exon12:c.C1355G:p.A452G,SDCCAG8:NM_001350246:exon13:c.C356G:p.A119G,SDCCAG8:NM_001350251:exon14:c.C356G:p.A119G	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00869716703568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08634	T	0.385	0.19188	T	0.617	0.39849	P	0.178	0.35748	B	0.030023	0.25368	N	0.417546	0.94277	0.28573	N	1.405	0.35469	L	0.9	0.45636	T	-1.5	0.36586	N	0.226	0.25377	-1.0500	0.14397	T	0.074	0.29834	T	10	0.07874256	0.12585	T	0.008697	0.22976	T	0.070	0.20419	0.098	0.01383	0.445614145163	0.44183	0.05782877387694253	0.05723	0.0454073510886	0.04925	0.313101500273	0.12376	T	0.03253	0.22527	T	-0.180905	0.23600	T	-0.497634	0.22594	T	0.689531981945038	0.40226	D	0.861914	0.55630	D	0.17646994	0.38561	0.07023531	0.14896	0.17646994	0.38560	0.07023531	0.14895	-6.26	0.48405	T	0.12034814503952256	0.11306	0.103	0.18497	B	.;.	.;.	1.387519	0.17995	13.49	0.99526268765805481	0.69591	0.19837	0.20814	N	AEFDBHCI	0.111687	0.22105	N	-0.217229129123775	0.32428	1.828616	-0.164742144960509	0.32845	1.872714	0.999372431080844	0.39355	0.741868	0.97996	0	0.743671	0.97443	0	0.653264	0.51672	0	0.662026	0.63922	0	.	.	5.88	3.99	0.45527	0.479000	0.21938	1.102000	0.24078	0.599000	0.40250	0.223000	0.24568	0.543000	0.25426	0.995000	0.73285	0.0:0.6065:0.2569:0.1366	7.515	0.26764	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	607.33	33	chr1	243341076	.	C	G	607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=698;ExcessHet=0;FS=3.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=1.24;SOR=0.969	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1128	18	0	1	0
chr1	244552728	244552728	A	G	exonic	CATSPERE	.	nonsynonymous SNV	CATSPERE:NM_001242340:exon6:c.A490G:p.R164G,CATSPERE:NM_001130957:exon9:c.A943G:p.R315G,CATSPERE:NM_173807:exon9:c.A943G:p.R315G	.	443	1074	5	0	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.010431141341	0.0002	0.000399361	0.0001	0	0	0	0	5.995e-05	0	0.0005	9.7e-05	15	154602	rs375228084	8.346e-05	8.345e-05	6.398e-05	0.0001	0.0026	7.137e-05	6.685e-05	0.0016	0.0013	5.975e-05	4.475e-05	0	2.521e-05	0	0.0026	3.957e-05	0.0002	0.0005	8.533e-05	8.53e-05	8.992e-05	8.053e-05	0.0010	4.952e-05	3.959e-05	0.0004	0.0003	2.404e-05	0	6.539e-05	0.0003	0	0	0	7.349e-05	0	0.0010	0.044	0.44029	D	0.096	0.61642	T	0.152	0.31898	B	0.023	0.25995	B	0.911384	0.08550	N	0.957902	1	0.08975	N	.	.	.	1.48	0.31731	T	-2.85	0.62343	D	0.161	0.20262	-1.0491	0.14649	T	0.056	0.23527	T	10	0.033823967	0.01570	T	0.010431	0.26958	T	0.080	0.23350	.	.	0.0716867268079	0.06686	0.5742256416496454	0.57351	0.207902682033	0.23254	.	.	.	0.020072	0.15869	T	-0.411707	0.01936	T	-0.513009	0.21006	T	0.0497399414557155	0.05455	T	0.473853	0.14122	T	0.1473802	0.33694	0.18438041	0.41486	0.1473802	0.33694	0.18438041	0.41485	-5.466	0.45960	T	.	.	0.193	0.42906	B	.;.;.;.	.;.;.;.	2.236136	0.28549	17.83	0.98041769025674552	0.37797	0.04955	0.10718	N	AEGHCI	0.153912	0.27884	N	-0.564168329260186	0.20042	1.053592	-0.578990351802756	0.20041	1.077999	0.476803735643561	0.20752	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.47	3.08	0.34576	1.427000	0.34489	3.212000	0.36806	0.756000	0.94297	0.007000	0.17678	0.027000	0.21108	0.003000	0.05239	0.6479:0.1798:0.0:0.1723	5.422	0.15706	817	0.41665	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	987.33	33	chr1	244552728	.	A	G	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=698;ExcessHet=0;FS=3.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.072;SOR=1.265	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1316	18	0	1	0
chr1	245609358	245609358	G	A	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon8:c.G1744A:p.E582K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0922834117181	.	.	1.08e-05	0	0	0	0	1.937e-05	0	0	1.94e-05	3	154602	rs770595821	5.486e-06	5.472e-06	9.545e-06	1.379e-06	7.204e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.008	0.67890	D	1.0	0.90584	D	0.991	0.80445	D	.	.	.	.	1	0.81001	D	1.755	0.45626	L	-0.88	0.74689	T	-3.56	0.68880	D	0.777	0.81360	-0.0114	0.82020	T	0.497	0.80980	T	9	0.779909	0.77767	D	0.092283	0.75862	D	0.533	0.80367	0.469	0.54214	0.55067216839	0.54723	0.5877514828443344	0.58705	0.338892829597	0.35849	0.82936578989	0.86465	D	0.64017	0.88956	D	0.147274	0.69012	D	-0.0262276	0.68618	D	0.931834936141968	0.59747	D	0.968503	0.88585	D	0.46304825	0.64860	0.4173411	0.65791	0.46304825	0.64861	0.4173411	0.65791	-13.391	0.90910	D	.	.	0.854	0.79965	P	.;.	.;.	5.245585	0.88070	29.5	0.99900548296552538	0.97275	0.99190	0.92559	D	AEFDBI	0.910577	0.86867	D	0.740314089795978	0.82272	7.722033	0.734627192478254	0.85004	8.453108	0.999999999999982	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.22	5.22	0.72285	10.003000	0.99689	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:1.0:0.0	19.140	0.93427	971	0.05719	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	36	chr1	245609358	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=873;ExcessHet=0;FS=4.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.223;SOR=0.829	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr1	245688135	245688135	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C5152T:p.P1718S	.	.	.	.	.	.	.	.	.	.	.	4159227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.274	0.126286864865	9.4e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs373108388	5.573e-06	8.209e-06	6.921e-06	4.208e-06	6.034e-05	2.4e-06	1.73e-06	9.99e-06	3.74e-06	6.034e-05	2.331e-05	0	0	0	0	4.524e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.382	0.11120	T	0.459	0.12632	T	0.067	0.28155	B	0.03	0.25828	B	.	.	.	.	0.992164	0.44438	D	1.545	0.39105	L	-1.1	0.77336	T	0.59	0.02558	N	0.274	0.33578	-0.4868	0.69122	T	0.382	0.73855	T	9	0.11279258	0.21168	T	0.126287	0.80792	D	0.274	0.59007	.	.	0.043077524339	0.03247	0.3370475144480874	0.33617	0.305377239782	0.32842	0.524411678314	0.42248	T	0.042537	0.26213	T	-0.181565	0.23503	T	-0.29891	0.44839	T	0.0685628955940695	0.08448	T	0.530047	0.17709	T	0.064681105	0.13746	0.08496894	0.19586	0.064681105	0.13746	0.08496894	0.19586	-2.351	0.04841	T	.	.	0.070	0.04806	B	.;.	.;.	1.439022	0.18583	13.82	0.93446512532025927	0.23227	0.75721	0.37089	D	AEFDBCI	0.433658	0.49503	N	-0.177523553845282	0.34073	1.940414	-0.106925079938154	0.35109	2.02742	0.999999998619194	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.0	5.0	0.66209	2.341000	0.43640	0.793000	0.21586	0.524000	0.24156	0.832000	0.30162	0.126000	0.22952	0.006000	0.07323	0.0:0.9187:0.0:0.0813	11.758	0.51157	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2731.33	39	chr1	245688135	.	C	T	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.822;DP=984;ExcessHet=0;FS=12.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=0.233;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1316:.	18	0	1	0
chr1	245688136	245688136	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C5153T:p.P1718L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.397691179719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.891	0.54400	P	0.541	0.48869	P	.	.	.	.	0.999987	0.58761	D	2.825	0.82220	M	-1.34	0.79944	T	-2.68	0.57275	D	0.475	0.51048	0.144	0.84951	D	0.529	0.82496	D	9	0.39930016	0.55453	T	0.397691	0.93329	D	0.386	0.70276	0.172	0.07774	0.143184338766	0.13958	0.3671386844800689	0.36627	0.308200376121	0.33126	0.573729276657	0.49204	T	0.482683	0.81072	T	0.0325191	0.56059	T	-0.191065	0.55491	T	0.890052616596222	0.54083	D	0.646635	0.25918	T	0.1260895	0.29542	0.20142727	0.44123	0.1260895	0.29541	0.20142727	0.44122	-3.965	0.23278	T	.	.	0.093	0.16451	B	.;.	.;.	2.258804	0.28859	17.94	0.99331404674736479	0.59777	0.93131	0.57407	D	AEFDBCI	0.447807	0.50330	N	0.184633247410698	0.50461	3.23591	0.106735579936627	0.44892	2.76227	0.99999999688207	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.0	4.08	0.46880	2.542000	0.45403	4.656000	0.44217	0.524000	0.24156	0.819000	0.29975	0.222000	0.23721	0.004000	0.06068	0.1464:0.8536:0.0:0.0	14.709	0.68830	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2731.33	39	chr1	245688136	.	C	T	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.621;DP=981;ExcessHet=0;FS=12.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=0.277;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1316:.	18	0	1	0
chr1	246565949	246565949	C	T	exonic	TFB2M	.	nonsynonymous SNV	TFB2M:NM_022366:exon1:c.G190A:p.A64T	.	427	1073	22	0	0	22	0.0101476	.	.	.	2812927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	.	0.0051	0.00279553	0.0049	0.0014	0.0033	0	0	0.0077	0.0055	0.0015	0.0049935	772	154602	rs143880306	0.0061	0.0061	0.0061	0.0061	0.0116	0.0060	0.0059	0.0094	0.0086	0.0008	0.0052	0.0167	2.519e-05	0.0003	0.0116	0.0068	0.0068	0.0021	0.0052	0.0052	0.0056	0.0047	0.0080	0.0049	0.0047	0.0075	0.0072	0.0013	0	0.0069	0.0141	0	9.407e-05	0.0136	0.0080	0.0080	0.0015	0.734	0.03764	T	0.635	0.07082	T	0.012	0.16265	B	0.002	0.06944	B	0.000171	0.00496	N	5.143560	1	0.08975	N	0.14	0.08730	N	1.56	0.29602	T	0.47	0.03090	N	0.091	0.06990	-1.0424	0.16592	T	0.018	0.07612	T	10	0.0036287904	0.00066	T	.	.	.	0.008	0.00669	.	.	0.222439326576	0.21863	0.15439860749502873	0.15360	0.14952211218	0.16857	0.292847573757	0.09338	T	0.00736	0.06771	T	-0.726497	0.00025	T	-0.806944	0.01735	T	0.00479200860353576	0.00051	T	0.382862	0.09330	T	0.038390636	0.05105	0.056171395	0.09989	0.038390636	0.05105	0.056171395	0.09988	-3.162	0.12022	T	.	.	0.071	0.03887	B	.	.	-0.530602	0.01771	0.135	0.75541091354571388	0.11115	0.00807	0.03278	N	ALL	0.045230	0.07374	N	-1.7749125845375	0.00609	0.02626836	-1.8661776440371	0.00570	0.02528334	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.95	-7.9	0.01035	-1.432000	0.02536	-1.696000	0.04897	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2046:0.1359:0.3048:0.3547	1.055	0.01488	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.004076	0.000000	0.050000	0.000000	0.015244	0.000000	0.02632	2280.33	35	chr1	246565949	.	C	T	2280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.096;DP=816;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.492;SOR=0.774	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2294,0,2084	18	0	1	0
chr1	246767202	246767202	G	C	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon12:c.G1192C:p.V398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0607066122749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.052981	1	0.81001	D	3.025	0.86340	M	0.6	0.53731	T	-2.56	0.55339	D	0.813	0.80866	0.008	0.82423	D	0.430	0.77238	T	10	0.969491	0.96509	D	0.060707	0.68090	D	0.560	0.81946	0.875	0.96581	0.849804418415	0.84836	0.9023042328331593	0.90202	0.628220077563	0.56899	0.435453057289	0.29955	T	0.312982	0.68476	T	0.277	0.81094	D	0.16069	0.80851	D	0.995431065559387	0.87417	D	0.939806	0.77272	D	0.5842948	0.71842	0.36693108	0.62013	0.5842948	0.71843	0.36693108	0.62012	-8.706	0.65785	D	.	.	0.813	0.77883	P	.	.	5.176468	0.86775	29.0	0.9980880289366385	0.89264	0.99645	0.98295	D	AEFBI	0.933965	0.92666	D	0.903023816211085	0.91906	11.12833	0.831453057332703	0.91888	11.12129	0.999984630838445	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.91	5.0	0.66209	9.015000	0.93160	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0673:0.0:0.9327:0.0	15.183	0.72656	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	46.86	35	chr1	246767202	.	G	C	46.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.236;DP=1020;ExcessHet=0.119;FS=378.294;InbreedingCoeff=-0.0568;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.427;SOR=8.688	GT:AD:DP:GQ:PL	0/0:56,13:69:48:0,48,1388	17	0	2	0
chr1	246843811	246843811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6509G:p.K2170R,AHCTF1:NM_001323343:exon34:c.A6509G:p.K2170R,AHCTF1:NM_015446:exon34:c.A6536G:p.K2179R	.	1055	460	2	5	0	12	0.0128755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00698120750387	0.0018	0.00239617	0.0025	0.0001	0.0024	0.0001	0	0.0035	0.0025	0.0029	0.0020763	321	154602	rs146417813	0.0017	0.0018	0.0016	0.0018	0.0188	0.0016	0.0016	0.0153	0.0140	0.0003	0.0012	0.0089	5.844e-05	6.274e-05	0.0188	0.0015	0.0029	0.0028	0.0017	0.0017	0.0019	0.0015	0.0025	0.0015	0.0015	0.0022	0.0020	0.0003	0	0.0016	0.0095	0	0	0.0204	0.0025	0.0033	0.0023	0.653	0.04802	T	0.579	0.08685	T	0.001	0.07471	B	0.002	0.06944	B	0.189287	0.16890	N	0.602060	1	0.08975	N	1.13	0.28900	L	1.61	0.28391	T	-0.37	0.13226	N	0.064	0.05929	-1.0223	0.22965	T	0.030	0.13067	T	10	0.0053425133	0.00117	T	0.006981	0.18485	T	0.016	0.02506	.	.	0.252829632966	0.24901	0.06322072602380963	0.06261	0.201751063607	0.22580	0.21403862536	0.00995	T	0.035666	0.23808	T	-0.707788	0.00033	T	-0.79408	0.02055	T	0.0024258184804653	0.00025	T	0.587941	0.21519	T	0.03907174	0.05327	0.032779865	0.02066	0.03907174	0.05327	0.032779865	0.02066	-4.685	0.33222	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	-0.590436	0.01598	0.108	0.55561035985374962	0.05368	0.02980	0.07830	N	AEFGBI	0.039816	0.05836	N	-1.14112630310275	0.05927	0.2715225	-1.14568492292391	0.06846	0.3309162	2.66950826835638E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.17	-0.428	0.11693	-0.560000	0.06055	-4.093000	0.02347	0.609000	0.47794	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.1555:0.4186:0.0:0.4259	4.495	0.11245	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.000000	0.005435	0.002924	0.000000	0.025862	0.012195	0.026515	0.02632	372.33	34	chr1	246843811	.	T	C	372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=591;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.223;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	18	0	1	0
chr1	246850241	246850241	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5765G:p.D1922G,AHCTF1:NM_001323343:exon33:c.A5765G:p.D1922G,AHCTF1:NM_015446:exon33:c.A5792G:p.D1931G	.	425	1071	26	0	0	26	0.0119926	.	.	.	2812929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.0107291142019	0.0032	0.000798722	0.0033	0.0010	0.0015	0	0.0008	0.0046	0.0066	0.0035	0.0032406	501	154602	rs142603415	0.0044	0.0044	0.0043	0.0045	0.0121	0.0043	0.0043	0.0099	0.0090	0.0014	0.0019	0.0059	0	0.0010	0.0121	0.0048	0.0047	0.0043	0.0031	0.0031	0.0032	0.0029	0.0049	0.0028	0.0027	0.0044	0.0043	0.0015	0	0.0012	0.0040	0.0002	0.0006	0.0102	0.0049	0.0085	0.0023	0.105	0.29823	T	0.12	0.35970	T	0.002	0.09854	B	0.004	0.10090	B	0.111718	0.19388	N	0.534254	1	0.08975	N	2.075	0.57047	M	1.36	0.34452	T	-1.57	0.37955	N	0.148	0.15046	-1.0400	0.17313	T	0.062	0.25780	T	10	0.0028435588	0.00045	T	0.010729	0.27599	T	0.010	0.01040	.	.	0.184605227958	0.18053	0.16709200342744523	0.16629	0.327356970608	0.34875	0.257035255432	0.04544	T	0.152442	0.49284	T	-0.56379	0.00241	T	-0.576082	0.14896	T	0.00445664915698034	0.00048	T	0.474753	0.14169	T	0.075094275	0.16896	0.057518344	0.10469	0.075094275	0.16896	0.057518344	0.10469	-4.57	0.31792	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	1.318808	0.17227	13.04	0.9066290190613534	0.19914	0.17733	0.19964	N	AEFDGBI	0.076501	0.15390	N	-0.792633561883497	0.13500	0.6655449	-0.789202850408164	0.14759	0.7728982	0.991682478203903	0.32573	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	2.11	0.26299	1.100000	0.30637	0.194000	0.15776	0.651000	0.53179	0.042000	0.21073	0.000000	0.08366	0.050000	0.15192	0.0:0.1456:0.2791:0.5753	5.419	0.15689	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011405	0.015873	0.010989	0.022124	0.000000	0.008772	0.011628	0.004202	0.02632	1749.33	38	chr1	246850241	.	T	C	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.607;DP=835;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=1.05;QD=11.74;ReadPosRankSum=0.768;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr1	246987437	246987437	C	T	exonic	ZNF695	.	nonsynonymous SNV	ZNF695:NM_020394:exon4:c.G1078A:p.A360T	.	411	1107	3	1	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00430426790405	.	0.000998403	0.0022	0.0003	0.0012	0	0	0.0037	0.0011	6.17e-05	0.0020116	311	154602	rs61753584	0.0046	0.0046	0.0047	0.0045	0.0057	0.0045	0.0045	0.0056	0.0056	0.0009	0.0017	0.0001	2.521e-05	0.0004	0.0035	0.0057	0.0030	0.0002	0.0023	0.0023	0.0025	0.0021	0.0042	0.0021	0.0020	0.0038	0.0036	0.0007	0	0.0020	0.0003	0	9.436e-05	0	0.0042	0.0024	0	0.026	0.46910	D	0.137	0.33894	T	0.107	0.26081	B	0.02	0.19048	B	.	.	.	.	1	0.81001	D	-0.085	0.04774	N	5.62	0.00808	T	-3.59	0.69236	D	0.047	0.01911	-0.9108	0.46756	T	0.002	0.00556	T	9	0.0054905117	0.00121	T	0.004304	0.10435	T	0.019	0.03383	.	.	0.0297737177859	0.01360	0.003443887840653047	0.00321	0.24324625956	0.26827	0.286855638027	0.08466	T	0.043238	0.26436	T	-0.689423	0.00042	T	-0.763366	0.02993	T	0.0264986625517585	0.01474	T	0.0522948	0.00374	T	0.17026795	0.37592	0.2151155	0.46088	0.17026795	0.37592	0.2151155	0.46087	-5.537	0.42213	T	.	.	0.145	0.32054	B	.	.	1.976149	0.25106	16.64	0.98953181423513981	0.49170	0.00001	0.00044	N	AEFDBHCI	0.056442	0.10434	N	-1.17439710681394	0.05389	0.2455678	-1.21250645463881	0.05708	0.2727427	0.00182814314398539	0.08920	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	0.489	0.489	0.16063	-2.311000	0.01209	-20.000000	0.00162	0.243000	0.18268	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.0:0.6151:0.0:0.3849	2.875	0.05283	844	0.36711	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.010101	0.004076	0.011696	0.050000	0.000000	0.000000	0.000000	0.02632	775.33	33	chr1	246987437	.	C	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.784;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=1.82;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27:54:99:0|1:246987437_C_T:789,0,793:246987437	18	0	1	0
chr1	247256848	247256848	C	T	exonic	VN1R5	.	unknown	UNKNOWN	.	431	1068	21	2	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0018	0	0.0010	0	0	0.0001	0.0011	0.0118	0.0015653	242	154602	rs370336884	0.0008	0.0008	0.0005	0.0011	0.0113	0.0008	0.0008	0.0107	0.0105	8.961e-05	0.0006	0.0004	0	1.873e-05	0.0031	0.0001	0.0010	0.0113	0.0005	0.0005	0.0003	0.0007	0.0112	0.0004	0.0004	0.0088	0.0080	0.0001	0	0.0001	0.0006	0	0	0	0.0002	0.0005	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	2761.33	140	chr1	247256848	.	C	T	2761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1348;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.06;SOR=0.688	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr1	247256985	247256985	A	T	exonic	VN1R5	.	unknown	UNKNOWN	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	0.0003	0	0	0.0029	0.0003	1.498e-05	0.0033	6.056e-05	0.000207	32	154602	rs200531164	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0052	0.0049	0	0	0	0.0058	1.873e-05	0.0002	2.968e-05	0.0002	5.797e-05	7.878e-05	7.873e-05	6.423e-05	9.399e-05	0.0017	4.493e-05	3.509e-05	0.0009	0.0007	0	0	0	0	0.0017	9.422e-05	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2314.33	140	chr1	247256985	.	A	T	2314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.107;DP=1298;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.613;SOR=0.83	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr1	247257061	247257061	T	C	exonic	VN1R5	.	unknown	UNKNOWN	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.936e-05	0.0001	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs762363184	9.237e-05	9.235e-05	8.305e-05	0.0001	0.0002	7.959e-05	7.433e-05	9.117e-05	8.527e-05	5.974e-05	0.0002	3.826e-05	0	3.745e-05	0.0002	0.0001	3.313e-05	0	9.854e-05	9.85e-05	0.0002	4.034e-05	0.0002	6.005e-05	4.879e-05	0.0001	7.893e-05	4.825e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	136	chr1	247257061	.	T	C	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.849;DP=1257;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.665;SOR=0.676	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr1	247329233	247329233	C	T	exonic	ZNF496	.	nonsynonymous SNV	ZNF496:NM_001329733:exon4:c.G346A:p.A116T,ZNF496:NM_032752:exon4:c.G346A:p.A116T	.	.	.	.	.	.	.	.	.	.	.	2301416	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0028191179561	.	0.000199681	2.532e-05	0.0001	0	0	0	1.544e-05	0	6.064e-05	3.23e-05	5	154602	rs188968543	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	5.974e-05	4.472e-05	0	0	0	0.0003	8.993e-06	1.656e-05	1.159e-05	1.97e-05	1.969e-05	2.57e-05	1.343e-05	7.217e-05	5.24e-06	2.45e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.077	0.42436	T	1.0	0.90584	D	0.992	0.80445	D	0.009857	0.30173	N	0.154354	0.998923	0.21792	N	0.55	0.14455	N	3.67	0.04188	T	-0.54	0.16598	N	0.494	0.52740	-1.1162	0.02587	T	0.029	0.12541	T	10	0.15646783	0.29467	T	0.002819	0.05898	T	0.131	0.35738	.	.	0.232442253697	0.22838	0.48348503183573976	0.48268	1.27251452681	0.82317	0.661951303482	0.61689	T	0.104631	0.41436	T	-0.367063	0.03745	T	-0.58289	0.14288	T	0.312000052875808	0.25496	T	0.829517	0.49484	T	0.05997921	0.12254	0.07684429	0.17059	0.05997921	0.12253	0.07684429	0.17059	-6.435	0.49782	T	.	.	0.402	0.59711	A	.;.	.;.	3.529183	0.49512	22.8	0.99891337142934222	0.96513	0.22169	0.21655	N	AEFDBCI	0.073606	0.14728	N	0.0787000569687051	0.45470	2.803003	-0.0404320275666148	0.37908	2.225938	0.999999989418697	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	0.687000	0.25088	.	.	0.599000	0.40250	0.013000	0.18845	0.999000	0.35428	0.938000	0.47775	0.0:1.0:0.0:0.0	12.272	0.54030	912	0.21483	SCAN domain|SCAN domain|SCAN domain|SCAN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	36	chr1	247329233	.	C	T	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=781;ExcessHet=0;FS=1.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.167;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr1	247424041	247424041	G	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.G592A:p.V198M,NLRP3:NM_001127462:exon4:c.G592A:p.V198M,NLRP3:NM_001243133:exon4:c.G592A:p.V198M,NLRP3:NM_004895:exon4:c.G598A:p.V200M,NLRP3:NM_183395:exon4:c.G592A:p.V198M,NLRP3:NM_001079821:exon5:c.G592A:p.V198M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	0	1500	22	0	0	22	0.00727995	.	.	.	19410	Familial_cold_autoinflammatory_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|not_specified|not_provided|Kidney_disorder|NLRP3-related_disorder|Hearing_loss,_autosomal_dominant_34,_with_or_without_inflammation|Keratitis_fugax_hereditaria|Cryopyrin_associated_periodic_syndrome|Autoinflammatory_syndrome	MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100,Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|.|MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772|MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	.	0.0068	0.00399361	0.0083	0.0013	0.0038	0.0001	0.0253	0.0099	0.0156	0.0060	0.0078912	1220	154602	rs121908147	0.0085	0.0085	0.0086	0.0085	0.0087	0.0084	0.0083	0.0085	0.0085	0.0011	0.0042	0.0115	2.519e-05	0.0238	0.0052	0.0087	0.0078	0.0063	0.0073	0.0073	0.0066	0.0079	0.0087	0.0069	0.0068	0.0081	0.0079	0.0013	0	0.0066	0.0130	0.0002	0.0255	0.0034	0.0087	0.0080	0.0054	0.155	0.24183	T	0.226	0.25748	T	0.069	0.23796	B	0.016	0.17743	B	0.234251	0.03538	N	1.537910	2.97861e-11	0.08975	A	.	.	.	-2.33	0.87910	D	-0.22	0.12283	N	0.07	0.04547	-0.7300	0.58964	T	0.212	0.57281	T	9	0.03694403	0.02021	T	.	.	.	0.222	0.51872	.	.	0.513846082701	0.51024	0.22615389081437023	0.22530	0.460099396149	0.45567	0.299927890301	0.10390	T	0.384477	0.74610	T	-0.437204	0.01343	T	-0.392971	0.34203	T	0.00574209630635007	0.00063	T	0.627137	0.25952	T	0.039222877	0.05375	0.061986197	0.12055	0.029809969	0.02537	0.05537048	0.09700	-4.569	0.32045	T	.	.	0.074	0.05491	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.233222	0.02926	0.426	0.72672109334390289	0.10055	0.05110	0.10913	N	AEFDBI	0.073820	0.14778	N	-1.70017292574289	0.00841	0.03637804	-1.75656881570094	0.00909	0.04064689	0.999945305624792	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.27	-7.37	0.01266	-0.254000	0.08801	.	.	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.7268:0.0:0.1551:0.1181	9.296	0.36974	889	0.27310	.;NACHT-associated domain|NACHT-associated domain;NACHT-associated domain|NACHT-associated domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.022727	0.02632	7870.33	42	chr1	247424041	.	G	A	7870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=1297;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.86;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	247605780	247605780	C	A	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C195A:p.N65K	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00539107393496	0.0046	0.00239617	0.0036	0.0022	0.0008	0	0.0041	0.0052	0.0022	0.0018	0.003454	534	154602	rs144188677	0.0044	0.0044	0.0044	0.0044	0.0054	0.0043	0.0043	0.0049	0.0048	0.0018	0.0020	0.0055	2.519e-05	0.0038	0.0054	0.0050	0.0037	0.0018	0.0035	0.0035	0.0036	0.0033	0.0043	0.0032	0.0031	0.0038	0.0037	0.0021	0	0.0043	0.0072	0	0.0038	0.0238	0.0042	0.0052	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.955	0.54515	P	0.717	0.54739	P	0.184667	0.17009	U	0.414645	0.833276	0.28731	N	2.455	0.71248	M	2.64	0.12780	T	-5.01	0.82450	D	0.242	0.27316	-0.9114	0.46682	T	0.075	0.30210	T	10	0.010586411	0.00235	T	0.005391	0.13832	T	0.089	0.25827	0.706	0.84236	0.384252928164	0.38032	0.47441216480303716	0.47360	0.280402639515	0.30520	0.269953638315	0.06135	T	0.113195	0.43004	T	-0.500059	0.00571	T	-0.490123	0.23379	T	0.0355344607834546	0.02899	T	0.40306	0.10319	T	0.7215907	0.79250	0.78552395	0.87368	0.7215907	0.79251	0.78552395	0.87369	-7.974	0.60892	D	.	.	0.43	0.61192	A	.	.	1.886663	0.23966	16.22	0.9975507328349964	0.84615	0.14311	0.18335	N	AEFI	0.139604	0.26125	N	0.22960980689328	0.52638	3.436781	0.0607413679669384	0.42593	2.578999	1.15439266639014E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.79	3.79	0.42757	-0.469000	0.06725	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.775000	0.36711	0.0:1.0:0.0:0.0	13.565	0.61273	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.010870	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	4331.33	33	chr1	247605780	.	C	A	4331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=1446;ExcessHet=0;FS=6.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.023;SOR=0.785	GT:AD:DP:GQ:PL	0/1:155,166:321:99:4345,0,3913	18	0	1	0
chr1	247723591	247723591	C	-	exonic	OR14A2	.	frameshift deletion	OR14A2:NM_001355292:exon5:c.453delG:p.L152Sfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2398.29	33	chr1	247723590	.	GC	G	2398.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.901;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.768;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1390	18	0	1	0
chr1	247738723	247738723	G	A	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.G109A:p.V37M	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000843318760879	0.0002	.	4.972e-05	0	8.673e-05	0	0	4.497e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs201271082	0.0001	0.0001	8.387e-05	0.0001	0.0029	8.31e-05	7.57e-05	0.0017	0.0013	0.0003	0.0005	0	0	0	0.0029	4.286e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0.0068	2.94e-05	0.0009	0	0.03	0.45393	D	0.019	0.59159	D	.	.	.	.	.	.	0.426261	0.04678	N	1.880630	1	0.08975	N	.	.	.	4.35	0.02319	T	0.63	0.02404	N	0.124	0.11626	-0.9934	0.31722	T	0.007	0.02282	T	7	0.04402861	0.03316	T	8.43E-4	0.00713	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.05187000595156568	0.05128	0.0662604446901	0.07392	.	.	.	0.006925	0.06354	T	-0.6403	0.00083	T	-0.823373	0.01385	T	0.0367441129090987	0.03111	T	0.138486	0.01104	T	0.026860323	0.01798	0.04696181	0.06662	0.026860323	0.01798	0.04696181	0.06661	-5.155	0.38481	T	.	.	0.105	0.19316	B	.	.	-1.437702	0.00334	0.006	0.59070062216873132	0.06138	0.00090	0.00598	N	AEFBI	0.021481	0.00961	N	-1.39077501083498	0.02724	0.1206785	-1.64703671820107	0.01391	0.06286533	0.144485070848767	0.17333	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-7.21	0.01340	-6.679000	0.00071	.	.	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2935:0.342:0.2724:0.092	3.020	0.05704	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2786.33	34	chr1	247738723	.	G	A	2786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.551;DP=863;ExcessHet=0;FS=5.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.255;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	18	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3272.33	34	chr1	247738768	.	C	T	3272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=848;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.241;SOR=0.766	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	18	0	1	0
chr1	247841403	247841403	C	G	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G494C:p.R165T	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0017824710136	.	0.000798722	0.0002	0	0	0	0	9.001e-05	0	0.0009	0.0001617	25	154602	rs201189703	9.03e-05	9.029e-05	5.309e-05	0.0001	0.0013	7.756e-05	7.299e-05	0.0011	0.0010	0	2.236e-05	0	2.519e-05	0	0.0009	7.194e-06	0.0001	0.0013	3.94e-05	3.937e-05	3.855e-05	4.028e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.025	0.47320	D	0.152	0.32249	T	0.049	0.22227	B	0.082	0.29098	B	0.176189	0.17231	U	0.418227	1	0.08975	N	1.71	0.44315	L	8.65	0.00144	T	-2.42	0.53096	N	0.095	0.07535	-1.0313	0.20034	T	0.000	0.00152	T	10	0.013434321	0.00285	T	0.001782	0.03037	T	0.021	0.04004	.	.	0.112648838833	0.10856	0.18785142474984848	0.18703	0.034493369384	0.03626	0.184537827969	0.00143	T	0.018451	0.14872	T	-0.647716	0.00075	T	-0.748727	0.03535	T	0.0336920105892148	0.02586	T	0.0424957	0.00299	T	0.095345825	0.22436	0.09568301	0.22703	0.095345825	0.22436	0.09568301	0.22702	-5.439	0.41293	T	.	.	0.138	0.30184	B	.	.	1.255665	0.16531	12.60	0.92155707748547022	0.21517	0.01603	0.05200	N	AEFBI	0.024580	0.01544	N	-1.01841780743864	0.08222	0.3847296	-1.02952284396511	0.09139	0.4530495	2.40597419801829E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	1.7	0.23359	-2.745000	0.00866	.	.	-1.184000	0.01383	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1014:0.2848:0.6137	6.112	0.19329	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1500.33	138	chr1	247841403	.	C	G	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=2325;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.298;SOR=0.68	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	18	0	1	0
chr1	247921313	247921315	TCT	-	exonic	OR2T8	.	nonframeshift deletion	OR2T8:NM_001005522:exon1:c.296_298del:p.F101del	.	690	821	8	3	0	14	0.00845411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0038	0	0.0019	0	0	0.0011	0.0192	0.0267	6.5e-06	1	154602	rs374461351	0.0026	0.0019	0.0016	0.0036	0.0239	0.0025	0.0025	0.0229	0.0224	0	0.0006	0.0003	9.208e-05	0	0.0094	0.0009	0.0022	0.0239	0.0009	0.0011	0.0005	0.0013	0.0178	0.0007	0.0007	0.0132	0.0116	9.807e-05	0	0.0004	0.0004	0	0	0	0.0008	0.0019	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005240	0.000000	0.000000	0.020619	0.000000	0.011364	0.004808	0.010753	0.05263	622.79	33	chr1	247921312	.	ATCT	A	622.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.205;DP=419;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=34.97;MQRankSum=1.87;QD=16.83;ReadPosRankSum=0.924;SOR=0.527	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	17	0	2	0
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A	.	431	954	137	0	0	137	0.0669927	.	.	.	3567362	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	672.83	301	chr1	247949492	.	G	C	672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.47;DP=4311;ExcessHet=0.119;FS=27.988;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.69;MQRankSum=-0.117;QD=1.38;ReadPosRankSum=-6.163;SOR=3.321	GT:AD:DP:GQ:PL	0/0:227,0:227:99:0,120,1800	17	0	2	0
chr1	248038745	248038745	G	A	exonic	OR2L2	.	nonsynonymous SNV	OR2L2:NM_001004686:exon1:c.G478A:p.V160I	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00197246020742	0.0019	0.000798722	0.0015	0.0004	0.0008	0	0.0005	0.0024	0	0.0005	0.0014942	231	154602	rs146509597	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0025	0.0024	0.0003	0.0006	7.652e-05	0	0.0005	0.0012	0.0025	0.0016	0.0007	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0002	0	0.0020	0.0009	0.0004	0.389	0.10874	T	0.679	0.06128	T	0.001	0.07471	B	0.02	0.19048	B	0.143394	0.02903	U	2.120970	1	0.08975	N	0.15	0.08895	N	1.22	0.37052	T	-0.69	0.19720	N	0.057	0.02861	-1.0199	0.23747	T	0.070	0.28577	T	10	0.0074587166	0.00169	T	0.001972	0.03535	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.03582228898664548	0.03529	0.0154856023659	0.01475	0.201332330704	0.00497	T	0.003716	0.03121	T	-0.679017	0.00049	T	-0.752129	0.03404	T	0.000255671766353771	0.00002	T	0.728627	0.34357	T	0.039619584	0.05505	0.031232359	0.01685	0.039619584	0.05504	0.031232359	0.01685	-3.835	0.21328	T	.	.	0.077	0.07083	B	.;.;.	.;.;.	-0.687930	0.01349	0.075	0.5580624574880515	0.05419	0.00808	0.03281	N	AEFDI	0.021197	0.00918	N	-1.25312094537153	0.04258	0.1918495	-1.37374089245119	0.03534	0.1650454	1.52753510087019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.9	-1.73	0.07646	-3.213000	0.00614	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3611:0.0:0.6389:0.0	7.001	0.23988	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5450.33	33	chr1	248038745	.	G	A	5450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=989;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.981;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1327	18	0	1	0
chr1	248273028	248273028	G	A	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.C787T:p.H263Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000476093075918	.	0.000199681	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs200994863	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	1.314e-05	1.312e-05	0	2.688e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.439661	0.12643	N	0.588159	1	0.08975	N	-0.365	0.03101	N	8.74	0.00084	T	1.42	0.00815	N	0.113	0.10056	-1.0139	0.25688	T	0.000	0.00039	T	10	0.020768583	0.00485	T	4.76E-4	0.00124	T	0.010	0.01040	.	.	0.225215365344	0.22153	0.027804503530383707	0.02730	1.21183374403	0.80855	0.269037842751	0.06015	T	8.53E-4	0.00427	T	-0.393471	0.02554	T	-0.80297	0.01829	T	0.0452695043222364	0.04652	T	0.0359464	0.00247	T	0.03459954	0.03913	0.037476975	0.03410	0.03459954	0.03912	0.037476975	0.03410	-3.45	0.15738	T	.	.	0.071	0.04002	B	.;.	.;.	-0.529809	0.01774	0.136	0.22918521302662503	0.00945	0.00212	0.01206	N	AEFI	0.016593	0.00382	N	-1.65358008175169	0.01020	0.04422387	-1.60022057150147	0.01654	0.07508204	3.00493607835385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.77	0.561	0.16471	-1.730000	0.01954	-20.000000	0.00162	-1.143000	0.01438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3963:0.0:0.6037:0.0	5.510	0.16167	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2248.33	37	chr1	248273028	.	G	A	2248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=838;ExcessHet=0;FS=0.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.73;MQRankSum=0.227;QD=11.9;ReadPosRankSum=0.538;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr1	248273512	248273514	GAA	-	exonic	OR2T33	.	nonframeshift deletion	OR2T33:NM_001004695:exon1:c.301_303del:p.F101del	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0004	0.0002	0	0	0.0008	0.0055	0.0201	0.0001153	3	26028	rs747751796	0.0003	0.0014	0.0003	0.0003	0.0031	0.0003	0.0003	0.0028	0.0027	8.969e-05	8.949e-05	0	2.519e-05	0	0.0006	0.0001	0.0005	0.0031	2.628e-05	0.0003	3.855e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007592	0.000000	0.002725	0.012605	0.000000	0.017241	0.019231	0.011538	0.05263	139.63	41	chr1	248273511	.	GGAA	G	139.63	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.21;DP=2142;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.026;MQ=44.51;MQRankSum=-1.968;QD=0.35;ReadPosRankSum=2.92;SOR=0.635	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	17	0	2	0
chr1	248273644	248273644	C	T	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.G171A:p.M57I	.	452	1051	19	0	0	19	0.00895804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0022	0.00459265	0.0051	0.0006	0.0013	0.0001	0.0027	0.0037	0.0044	0.0199	0.0004463	69	154602	rs146191422	0.0044	0.0044	0.0039	0.0049	0.0188	0.0043	0.0043	0.0180	0.0177	0.0006	0.0020	0.0010	0.0001	0.0028	0.0058	0.0038	0.0041	0.0188	0.0034	0.0034	0.0030	0.0037	0.0205	0.0031	0.0030	0.0173	0.0160	0.0004	0	0.0024	0.0009	0.0002	0.0035	0.0068	0.0046	0.0014	0.0205	0.001	0.78490	D	0.004	0.74150	D	0.97	0.56973	D	0.83	0.59611	P	0.000672	0.42516	U	0.000000	0.587033	0.32423	D	3.175	0.88760	M	2.99	0.09262	T	-3.3	0.65858	D	0.348	0.38950	-0.7002	0.60429	T	0.080	0.31705	T	10	0.0103830695	0.00231	T	.	.	.	0.168	0.42943	0.709	0.84509	0.60215957748	0.59898	0.32062858547817424	0.31975	1.61704118972	0.89014	0.216252028942	0.01104	T	0.012069	0.10668	T	-0.437176	0.01343	T	-0.385813	0.35043	T	0.0477881684187641	0.05106	T	0.873813	0.58316	D	0.8095102	0.84521	0.7608464	0.85870	0.8095102	0.84523	0.7608464	0.85871	-10.149	0.74799	D	.	.	0.731	0.74227	P	.;.	.;.	3.287508	0.45070	22.1	0.99636210278872583	0.76387	0.77667	0.38214	D	AEFI	0.231881	0.35503	N	0.521612514642491	0.68369	5.207717	0.327675825219252	0.57172	3.882075	4.13555868377744E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.74	0.23636	3.325000	0.51742	0.669000	0.20577	0.561000	0.28422	1.000000	0.71638	0.956000	0.29165	0.937000	0.47636	0.0:0.8852:0.0:0.1148	9.667	0.39154	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007403	0.000000	0.001374	0.000000	0.000000	0.008772	0.014286	0.027132	0.02632	2655.33	41	chr1	248273644	.	C	T	2655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.808;DP=1414;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.28;MQRankSum=2.22;QD=13.62;ReadPosRankSum=-0.883;SOR=0.75	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	18	0	1	0
chr1	248362181	248362181	C	T	exonic	OR2T4	.	nonsynonymous SNV	OR2T4:NM_001004696:exon1:c.C601T:p.R201C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00398819685734	.	0.000599042	0.0012	9.61e-05	0	0	0	1.498e-05	0	0.0086	0.0009508	147	154602	rs554938356	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.519e-05	0	0.0007	1.169e-05	0.0003	0.0089	0.0002	0.0002	3.856e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	0	0.0005	0.0052	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000095	0.51296	N	0.000000	0.796275	0.29168	N	-3.795	0.00001	N	8.97	0.00022	T	11.58	0.00000	N	0.184	0.19995	-0.9853	0.33760	T	0.000	0.00011	T	10	0.0058991313	0.00132	T	0.003988	0.09462	T	0.143	0.38195	0.639	0.77579	0.146414634003	0.14194	0.15065082046583939	0.14987	0.135719511789	0.15305	0.292992562056	0.09360	T	0.019	0.15464	T	-0.592466	0.00162	T	-0.61699	0.11422	T	0.040101016703779	0.03709	T	0.814918	0.46941	T	0.049614806	0.08836	0.05171146	0.08375	0.049614806	0.08835	0.05171146	0.08375	2.013	0.00051	T	.	.	0.042	0.00043	B	.;.	.;.	0.792185	0.11628	8.213	0.067527958144782768	0.00029	0.00801	0.03263	N	AEFI	0.032413	0.03657	N	-1.39947190021539	0.02644	0.1170335	-1.16797079630737	0.06451	0.3105781	7.16074344447646E-4	0.07685	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	3.61	3.61	0.40494	2.379000	0.43973	1.084000	0.23918	-0.211000	0.08354	0.991000	0.37257	0.848000	0.27364	0.031000	0.13245	0.0:0.0974:0.0:0.9026	8.493	0.32273	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	4273.33	298	chr1	248362181	.	C	T	4273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=4180;ExcessHet=0;FS=7.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.997;SOR=0.495	GT:AD:DP:GQ:PL	0/0:167,0:167:99:0,120,1800	18	0	1	0
chr1	248406232	248406232	A	G	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.A238G:p.I80V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00102223275083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454654192	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.602	0.07894	T	0.0	0.02946	B	0.001	0.04355	B	0.043409	0.23741	U	0.203527	1	0.08975	N	0.175	0.09039	N	4.07	0.03033	T	0.21	0.04776	N	0.039	0.01274	-0.9346	0.43455	T	0.004	0.01226	T	10	0.041002035	0.02716	T	0.001022	0.01120	T	0.002	0.00045	0.367	0.37524	0.0716867268079	0.06686	0.03282831461294318	0.03230	0.0118324598183	0.01115	0.214069515467	0.00996	T	0.003864	0.03272	T	-0.497507	0.00590	T	-0.855557	0.00892	T	0.0211606445397522	0.00818	T	0.143986	0.01172	T	0.028645385	0.02235	0.026727654	0.00779	0.028645385	0.02234	0.026727654	0.00779	-2.875	0.08896	T	.	.	0.065	0.01859	B	.;.	.;.	-0.860230	0.00994	0.040	0.23808219423539684	0.01023	0.01881	0.05786	N	AEFBI	0.037003	0.05020	N	-1.75115778150538	0.00676	0.02916092	-1.77184807749597	0.00854	0.03814095	0.227369728459863	0.18426	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	-5.41	0.02442	-1.541000	0.02302	-9.680000	0.00790	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1926:0.2369:0.4547:0.1158	4.293	0.10335	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	314.33	151	chr1	248406232	.	A	G	314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.96;DP=2485;ExcessHet=0;FS=130.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=3.5;SOR=9.455	GT:AD:DP:GQ:PL	0/0:220,53:273:39:0,39,5019	18	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4591.79	177	chr1	248441544	.	G	A	4591.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=2380;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=46.1;MQRankSum=7.76;QD=11.37;ReadPosRankSum=2.85;SOR=0.699	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	16	0	3	0
chr1	248473955	248473955	C	T	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C605T:p.T202M	.	513	995	7	7	0	21	0.0104426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.0159744	0.0033	0.0012	0.0048	0.0028	0.0007	0.0034	0.0048	0.0042	0.0038163	590	154602	rs1770111	0.0040	0.0065	0.0037	0.0042	0.0158	0.0039	0.0038	0.0130	0.0120	0.0015	0.0090	0.0167	0.0099	0.0014	0.0158	0.0031	0.0060	0.0066	0.0029	0.0034	0.0030	0.0028	0.0045	0.0027	0.0026	0.0030	0.0028	0.0014	0	0.0037	0.0116	0.0045	0	0.0263	0.0034	0.0066	0.0028	0.33	0.13131	T	0.278	0.21812	T	0.253	0.31246	B	0.044	0.24394	B	.	.	.	.	1	0.08975	N	0.325	0.10370	N	8.7	0.00113	T	-1.55	0.37566	N	0.061	0.03283	-1.1423	0.01275	T	0.000	0.00075	T	9	0.003765136	0.00070	T	.	.	.	0.017	0.02790	.	.	0.248417906384	0.24464	0.08161976449713292	0.08096	.	.	0.208420783281	0.00746	T	0.007275	0.06695	T	-0.686348	0.00044	T	-0.756334	0.03245	T	0.00104304895295309	0.00010	T	.	.	.	0.023127548	0.01027	0.041032095	0.04570	0.023127548	0.01026	0.041032095	0.04570	-5.433	0.41236	T	.	.	0.083	0.09191	B	.	.	0.258199	0.06370	2.833	0.62706229663304625	0.07031	0.00072	0.00504	N	AEFI	0.023168	0.01255	N	-1.60379288941427	0.01245	0.0541869	-1.68700124543288	0.01196	0.05383138	0.00180660915644204	0.08901	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.21	0.03552	0.113000	0.15333	-20.000000	0.00162	-0.412000	0.05259	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1746:0.2059:0.0:0.6195	4.529	0.11400	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022170	0.026316	0.029006	0.021739	0.000000	0.071429	0.014815	0.008130	0.05882	2626.42	110	chr1	248473955	.	C	T	2626.42	.	AC=2;AF=0.059;AN=34;DP=1706;ExcessHet=0;FS=0;InbreedingCoeff=0.8788;MLEAC=2;MLEAF=0.059;MQ=47.41;QD=32.42;SOR=1.416	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1392	16	1	0	2
chr1	248474103	248474103	C	G	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C753G:p.I251M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000652200950038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223073137	6.842e-07	3.42e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.574e-06	1.97e-05	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.61	0.05468	T	0.277	0.21880	T	0.013	0.16609	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.375	0.12094	N	1.1	0.39050	T	0.01	0.06868	N	0.035	0.01004	-1.0272	0.21363	T	0.039	0.16806	T	9	0.058195055	0.06803	T	6.52E-4	0.00350	T	0.019	0.03383	0.533	0.64148	0.276065633971	0.27208	0.04715025930995605	0.04658	.	.	0.208755046129	0.00760	T	0.004209	0.03621	T	-0.316268	0.07208	T	-0.692074	0.06270	T	0.038627531063115	0.03443	T	.	.	.	0.047525335	0.08137	0.053219758	0.08922	0.047525335	0.08137	0.053219758	0.08921	-4.097	0.25246	T	.	.	0.091	0.13032	B	.	.	-1.053374	0.00698	0.020	0.083792889335596393	0.00065	0.00268	0.01460	N	AEFGI	0.024956	0.01629	N	-1.64422054487898	0.01060	0.04597741	-1.75161176053328	0.00927	0.04148494	0.0183999289105845	0.13054	0.460665	0.09802	0	0.577304	0.33150	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-8.547000	0.00025	-20.000000	0.00162	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1559:0.3802:0.2249:0.239	1.063	0.01505	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	435	chr1	248474103	.	C	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.59;DP=5187;ExcessHet=0;FS=8.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.47;MQRankSum=-6.733;QD=3.07;ReadPosRankSum=-2.421;SOR=1.334	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr1	248488843	248488843	G	A	exonic	OR2T5	.	nonsynonymous SNV	OR2T5:NM_001004697:exon1:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	2345562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0018214554634	.	.	6.729e-05	0.0005	0	0	0	6.977e-05	0	0	.	.	.	rs768652455	2.381e-05	4.333e-05	2.733e-05	2.046e-05	0.0007	1.634e-05	1.381e-05	0.0004	0.0003	0.0007	0	0	0	0	0.0002	1.461e-05	2.198e-05	0	0	7.859e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.85	0.46913	P	0.41	0.44785	B	0.000855	0.41440	D	0.107649	0.953154	0.26414	N	1.97	0.53315	M	.	.	.	.	.	.	.	.	-1.0585	0.12134	T	0.023	0.09878	T	10	0.1924398	0.34973	T	0.001821	0.03141	T	.	.	0.701	0.83777	.	.	0.12039190546306026	0.11966	.	.	0.372370779514	0.21172	T	0.013392	0.11594	T	-0.251383	0.13930	T	-0.598871	0.12906	T	0.209415107965469	0.20922	T	.	.	.	0.329301	0.55413	0.31395173	0.57389	0.329301	0.55413	0.31395173	0.57388	-8.552	0.64773	D	.	.	0.460	0.62674	A	.	.	1.707097	0.21738	15.33	0.98926070238833286	0.48657	0.03676	0.08943	N	AEFI	0.032438	0.03662	N	-0.0826542948379767	0.38154	2.230262	-0.192791800122755	0.31800	1.803099	2.40530725427341E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.62	2.62	0.30337	-1.680000	0.02040	-3.201000	0.02976	0.488000	0.22294	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2903:0.0:0.7097:0.0	5.098	0.14077	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	193.33	37	chr1	248488843	.	G	A	193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.912;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.47;MQRankSum=-1.058;QD=5.52;ReadPosRankSum=2.08;SOR=0.165	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr1	248559237	248559237	C	T	exonic	OR2T29;OR2T5	.	nonsynonymous SNV	OR2T29:NM_001004694:exon1:c.G255A:p.M85I,OR2T5:NM_001004697:exon1:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00255446314123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389706393	7.34e-05	6.425e-05	8.593e-05	6.177e-05	0.0009	5.772e-05	5.178e-05	0.0006	0.0005	0.0009	0.0001	0	0	2.343e-05	0.0007	4.696e-05	5.498e-05	3.029e-05	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0002	0.0006	0.0005	0.0010	0	0	0	0	0	0	6.191e-05	0	0	0.032	0.44694	D	0.048	0.48594	D	0.754	0.43358	P	0.41	0.44785	B	0.000855	0.41440	D	0.107649	0.83795	0.28671	N	2.12	0.58754	M	3.43	0.05440	T	-3.38	0.66780	D	0.172	0.18376	-1.1022	0.03835	T	0.030	0.13067	T	10	0.36264026	0.52854	T	0.002554	0.05121	T	0.060	0.17295	0.689	0.82653	0.565865824572	0.56251	0.14021950973850375	0.13944	2.08621322631	0.94675	0.387423455715	0.23306	T	0.013146	0.11424	T	-0.222239	0.17690	T	-0.557008	0.16659	T	0.108154631276303	0.13231	T	0.725627	0.33984	T	0.51285285	0.67846	0.37135187	0.62366	0.51285285	0.67847	0.37135187	0.62366	-8.631	0.65293	D	.	.	0.447	0.63066	A	.;.	.;.	2.128074	0.27094	17.34	0.98945708239959373	0.49036	0.21506	0.21426	N	AEFI	0.143633	0.26639	N	-0.19305415900146	0.33423	1.896023	-0.319661875508429	0.27464	1.524123	3.38659669648571E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.71	2.71	0.31092	0.042000	0.13834	-2.514000	0.03662	0.421000	0.20799	0.012000	0.18695	0.000000	0.08366	0.540000	0.29938	0.0:1.0:0.0:0.0	12.241	0.53858	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	160.39	9	chr1	248559237	.	C	T	160.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.102;DP=326;ExcessHet=0;FS=0;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=32.64;MQRankSum=-0.769;QD=8.02;ReadPosRankSum=1.19;SOR=0.283	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,961	18	0	1	0
chr1	248574005	248574005	G	C	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.C753G:p.I251M	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00126399872984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418418311	5.507e-06	6.844e-06	5.484e-06	5.531e-06	0.0002	2.37e-06	1.71e-06	1.33e-06	9.6e-07	3.208e-05	0	0	0	0	0.0002	4.522e-06	1.665e-05	0	1.557e-05	1.345e-05	1.51e-05	1.607e-05	7.398e-05	2.59e-06	9.7e-07	.	.	0	0	7.398e-05	0	0	0	0.0034	0	0	0	0.631	0.05137	T	0.275	0.22016	T	0.013	0.16609	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.54	0.13725	N	1.1	0.39050	T	-0.08	0.08187	N	0.061	0.03283	-1.0197	0.23812	T	0.052	0.21999	T	9	0.09498927	0.16931	T	0.001264	0.01708	T	0.034	0.08419	0.583	0.70990	0.514870668196	0.51130	0.04369742029690185	0.04314	.	.	0.211041390896	0.00856	T	0.001871	0.01289	T	-0.390077	0.02687	T	-0.71523	0.05029	T	0.0291145052760839	0.01854	T	0.608239	0.22965	T	0.056947753	0.11272	0.06357097	0.12613	0.056947753	0.11271	0.06357097	0.12612	-4.113	0.25481	T	.	.	0.090	0.12750	B	.	.	-1.186655	0.00545	0.013	0.082707286986098819	0.00062	0.00129	0.00800	N	AEFGI	0.013681	0.00190	N	-1.6086152849281	0.01222	0.05313836	-1.73125625627777	0.01006	0.04508467	0.00141231344147441	0.08519	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.74	0.03013	-7.344000	0.00049	-20.000000	0.00162	-1.319000	0.01227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2331:0.3661:0.4008:0.0	7.071	0.24356	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	812.33	173	chr1	248574005	.	G	C	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.987;DP=1988;ExcessHet=0;FS=1.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.47;MQRankSum=-1.638;QD=5.45;ReadPosRankSum=-0.628;SOR=0.857	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr2	45953	45953	T	C	exonic	FAM110C	.	nonsynonymous SNV	FAM110C:NM_001077710:exon1:c.A433G:p.K145E	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00884437064015	0.0017	0.000798722	0.0040	0.0019	0.0004	0	0.0044	0.0057	0.0060	0.0009	0.0012225	189	154602	rs201895172	0.0025	0.0023	0.0025	0.0024	0.0029	0.0024	0.0024	0.0028	0.0028	0.0003	0.0003	0.0010	0	0.0020	0.0002	0.0029	0.0021	0.0002	0.0014	0.0014	0.0015	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0005	0	0.0003	0.0012	0.0002	0.0025	0	0.0022	0.0009	0.0004	0.172	0.22660	T	0.38	0.15988	T	0.005	0.12996	B	0.002	0.06944	B	0.001331	0.00770	U	19.859000	1	0.08975	N	1.1	0.28011	L	1.57	0.29342	T	-1.21	0.30762	N	0.131	0.12627	-1.0574	0.12414	T	0.036	0.15683	T	10	0.0052008033	0.00113	T	0.008844	0.23318	T	0.006	0.00375	.	.	0.134241683229	0.13084	0.07682671463907509	0.07618	0.954038324041	0.72747	0.587029635906	0.51076	T	0.010839	0.09742	T	-0.685227	0.00045	T	-0.759479	0.03132	T	0.00377817800165676	0.00040	T	0.307969	0.05936	T	0.06273188	0.13134	0.07462964	0.16346	0.06273188	0.13133	0.07462964	0.16345	-2.956	0.09715	T	.	.	0.088	0.11606	B	.	.	-0.268644	0.02757	0.370	0.88702386252432242	0.18186	0.02276	0.06567	N	AEFDBCI	0.048543	0.08294	N	-1.39121661418668	0.02720	0.1204962	-1.46774553603141	0.02613	0.1204871	0.999999582493396	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	4.1	-6.6	0.01657	-1.731000	0.01953	-4.457000	0.02147	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.3446:0.2617:0.3937	5.521	0.16220	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	570.33	40	chr2	45953	.	T	C	570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=781;ExcessHet=0;FS=10.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=1.32;SOR=0.732	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1117	18	0	1	0
chr2	287736	287736	C	T	exonic	ALKAL2	.	nonsynonymous SNV	ALKAL2:NM_001002919:exon2:c.G100A:p.G34R	.	.	.	.	.	.	.	.	.	.	.	3268217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0878907164309	.	.	9.956e-05	0	0	0.0078	.	0	0	0	1.29e-05	2	154602	rs376285161	5.048e-05	6.635e-05	6.184e-05	3.878e-05	0.0013	4.07e-05	3.713e-05	0.0010	0.0008	0	0	0	0.0013	0	0	1.823e-05	0.0002	0	0.0003	0.0003	0.0002	0.0003	0.0078	0.0002	0.0002	0.0059	0.0052	0	0	6.545e-05	0	0.0078	0	0	0	0	0	1.0	0.00964	T	0.799	0.04079	T	0.011	0.15914	B	0.005	0.11217	B	.	.	.	.	0.999869	0.19989	N	.	.	.	.	.	.	1.37	0.00867	N	0.067	0.03956	-0.9703	0.37136	T	0.030	0.12979	T	8	0.0026324093	0.00040	T	0.087891	0.75025	D	0.053	0.14996	0.215	0.13498	0.0401082797425	0.02173	0.296688179134057	0.29581	0.374827847212	0.38942	0.736999332905	0.72531	T	0.002491	0.01884	T	-0.561983	0.00247	T	-0.568995	0.15541	T	0.0183132554963503	0.00550	T	0.521348	0.16985	T	0.06423443	0.13606	0.06392094	0.12733	0.06423443	0.13606	0.06392094	0.12733	-3.004	0.10224	T	.	.	0.117	0.23883	B	.;.	.;.	0.700648	0.10695	7.388	0.93671653210374095	0.23567	0.01974	0.05975	N	AEFDBI	0.087656	0.17773	N	-1.60150658905817	0.01257	0.05468624	-1.61277592610225	0.01580	0.07161936	0.999999812648978	0.74766	0.685219	0.55550	0	0.541556	0.11502	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.01	-5.23	0.02584	-1.149000	0.03292	-0.977000	0.06726	0.574000	0.29054	0.001000	0.13787	0.000000	0.08366	0.050000	0.15192	0.0:0.3776:0.4071:0.2152	6.817	0.23019	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001623	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.000000	0.02632	546.33	67	chr2	287736	.	C	T	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.5;DP=733;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.142;SOR=0.923	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1237	18	0	1	0
chr2	677342	677342	G	A	exonic	TMEM18	.	nonsynonymous SNV	TMEM18:NM_152834:exon1:c.C4T:p.P2S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0018	0.00279553	0.0007	0.0079	0.0005	0	0	0	0	0	0.0006015	93	154602	rs113705272	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0061	0.0058	0.0068	0.0002	0	0	0	0.0005	1.259e-05	0.0010	3.496e-05	0.0020	0.0020	0.0019	0.0021	0.0071	0.0018	0.0018	0.0064	0.0062	0.0071	0	0.0003	0	0	0	0	2.94e-05	0.0019	0	0.099	0.30656	T	0.154	0.32040	T	0.035	0.20614	B	0.01	0.14941	B	0.198339	0.16665	N	0.606487	0.999961	0.18878	N	1.3	0.32576	L	.	.	.	-0.88	0.23808	N	0.282	0.31925	-1.0866	0.06120	T	0.043	0.18659	T	9	0.009626389	0.00217	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	.	.	0.148901881253	0.16790	0.683542430401	0.64778	T	0.018808	0.15099	T	-0.504988	0.00536	T	-0.494292	0.22943	T	0.0204603655562478	0.00746	T	0.578742	0.20864	T	0.041865155	0.06245	0.0659646	0.13445	0.041865155	0.06244	0.0659646	0.13444	-2.19	0.03992	T	.	.	0.163	0.35890	B	.	.	1.537414	0.19722	14.40	0.84790262934415017	0.15499	0.18110	0.20124	N	ALL	0.109687	0.21778	N	-0.634481682307644	0.17915	0.9259622	-0.600393903711217	0.19483	1.04551	0.999999999999988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.43	0.552	0.16419	0.543000	0.22945	0.192000	0.15754	0.613000	0.49114	0.891000	0.31220	0.970000	0.29701	0.050000	0.15192	0.2417:0.2096:0.5487:0.0	3.621	0.07637	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1079.33	33	chr2	677342	.	G	A	1079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.451;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.058;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	18	0	1	0
chr2	1267494	1267494	G	A	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon14:c.G1207A:p.V403M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.121845791434	8.2e-05	.	.	.	.	.	.	.	.	.	.	.	.	rs373854662	1.232e-05	1.231e-05	1.089e-05	1.375e-05	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000010	0.62929	D	0.064948	1	0.81001	D	2.62	0.76659	M	-1.14	0.77843	T	-2.84	0.60982	D	0.569	0.64308	0.409	0.89233	D	0.635	0.87219	D	10	0.77288336	0.77224	D	0.121846	0.80270	D	0.554	0.81601	.	.	0.816140063499	0.81441	0.6990113195975344	0.69842	0.316933666598	0.33943	0.553874254227	0.46404	T	0.208755	0.56877	T	0.213226	0.75136	D	0.0685085	0.74811	D	0.970504701137543	0.68973	D	0.892211	0.62852	D	0.41121703	0.61501	0.34126624	0.59868	0.41121703	0.61502	0.34126624	0.59867	-10.704	0.80469	D	.	.	0.182	0.39459	B	.;.	.;.	3.845896	0.55678	23.6	0.99831894831142198	0.91370	0.97998	0.78750	D	AEFGBI	0.810100	0.73344	D	0.537670714570277	0.69334	5.34227	0.393336184482028	0.61154	4.311565	0.999997393349102	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	7.486000	0.80232	6.219000	0.55104	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0:0.0:1.0:0.0	17.042	0.86366	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3423.33	258	chr2	1267494	.	G	A	3423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=3312;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.854;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	429	980	106	7	0	120	0.0576923	.	.	.	250315	not_specified|Anterior_segment_dysgenesis_7|not_provided	MedGen:CN169374|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.055388	0.030303	0.054348	0.093567	0.000000	0.094828	0.057927	0.030303	0.1053	6848.43	177	chr2	1643470	.	C	A	6848.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.192;DP=1214;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.474;SOR=0.73	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	15	0	4	0
chr2	5693753	5693764	CAGCAGCAGCGG	-	exonic	SOX11	.	nonframeshift deletion	SOX11:NM_003108:exon1:c.1032_1043del:p.S351_S354del	Mental retardation, autosomal dominant, 27, Autosomal dominant	399	1119	3	0	1	4	0.00133869	.	.	.	363893	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0004	0.0004	0.0005	0	0	8.506e-05	0.0031	0.0011	0.0002264	35	154602	rs755419138	0.0003	0.0003	0.0003	0.0004	0.0065	0.0003	0.0003	0.0048	0.0042	0.0006	0.0010	0	0.0001	4.317e-05	0.0065	0.0002	0.0004	0.0009	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0008	0.0007	0.0011	0	0.0008	0	0.0002	0	0.0102	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1635.29	38	chr2	5693752	.	CCAGCAGCAGCGG	C	1635.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=772;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=2.23;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1000	18	0	1	0
chr2	6865171	6865171	G	A	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_001256477:exon1:c.C526T:p.L176F,CMPK2:NM_001256478:exon1:c.C526T:p.L176F,CMPK2:NM_207315:exon1:c.C526T:p.L176F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0477565252577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274218249	1.446e-06	4.788e-06	2.856e-06	0	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.298e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.158	0.33000	T	0.95	0.53885	P	0.698	0.54098	P	0.262964	0.15277	N	0.621864	1	0.08975	N	0.805	0.20218	L	0.67	0.52187	T	-1.79	0.42191	N	0.097	0.07811	-1.0520	0.13845	T	0.099	0.36856	T	10	0.1560404	0.29396	T	0.047757	0.63066	D	0.119	0.33137	0.546	0.66015	0.519675384768	0.51611	0.3788248531808046	0.37797	0.380299228091	0.39395	0.702941536903	0.67570	T	0.046529	0.27452	T	-0.165274	0.25951	T	-0.475181	0.24959	T	0.560328483581543	0.34867	D	0.610139	0.23115	T	0.08790344	0.20487	0.13635398	0.32622	0.08790344	0.20487	0.13635398	0.32621	-5.025	0.37110	T	.	.	0.171	0.37539	B	.;.;.	.;.;.	1.694444	0.21587	15.26	0.99591321284793799	0.73631	0.77860	0.38334	D	AEFDBCIJ	0.050567	0.08850	N	-0.388525010690167	0.25877	1.407999	-0.470790254955109	0.22963	1.249875	0.999999976037404	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.27	2.41	0.28644	0.195000	0.16960	0.052000	0.14014	0.656000	0.54149	0.051000	0.21449	0.000000	0.08366	0.217000	0.22379	0.0963:0.166:0.7377:0.0	7.613	0.27311	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	949.33	75	chr2	6865171	.	G	A	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.562;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.09;SOR=0.741	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr2	9452935	9452935	A	G	exonic	CPSF3	.	nonsynonymous SNV	CPSF3:NM_001321833:exon12:c.A1307G:p.K436R,CPSF3:NM_001321834:exon12:c.A1307G:p.K436R,CPSF3:NM_001321835:exon12:c.A1001G:p.K334R,CPSF3:NM_016207:exon12:c.A1418G:p.K473R,CPSF3:NM_001321836:exon13:c.A1430G:p.K477R	.	435	1072	15	0	0	15	0.00694766	.	.	.	2815523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00916414986072	0.0045	0.00339457	0.0046	0.0014	0.0057	0	0.0003	0.0066	0.0022	0.0019	0.0045601	705	154602	rs1128215	0.0064	0.0064	0.0065	0.0063	0.0148	0.0063	0.0062	0.0122	0.0113	0.0012	0.0058	0.0156	2.522e-05	0.0005	0.0148	0.0071	0.0077	0.0019	0.0044	0.0043	0.0044	0.0043	0.0065	0.0041	0.0040	0.0060	0.0058	0.0013	0	0.0049	0.0161	0	0.0004	0.0374	0.0065	0.0080	0.0014	0.175	0.23631	T	0.251	0.24987	T	0.0	0.02946	B	0.004	0.10090	B	0.000001	0.62929	N	0.096092	0.999995	0.58761	D	0.85	0.21244	L	0.9	0.45248	T	-1.17	0.29933	N	0.271	0.36884	-1.0930	0.05051	T	0.059	0.24797	T	10	0.009083629	0.00205	T	0.009164	0.24083	T	0.065	0.18881	.	.	0.534191878353	0.53070	0.36333158560544615	0.36247	0.360493717213	0.37718	0.644317030907	0.59177	T	0.035966	0.23924	T	-0.573346	0.00211	T	-0.592203	0.13476	T	0.0149002921350576	0.00317	T	0.836816	0.50885	T	0.13815202	0.31962	0.16709857	0.38569	0.13815202	0.31961	0.16709857	0.38568	-6.108	0.47174	T	.	.	0.069	0.03162	B	.;.	.;.	2.653231	0.34548	19.66	0.99593209825021978	0.73748	0.92775	0.56515	D	AEFDBI	0.262052	0.37988	N	-0.200126292962074	0.33129	1.876089	-0.0107525427220578	0.39228	2.322746	0.87509975930707	0.25498	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.81	4.65	0.57626	3.575000	0.53614	4.610000	0.44033	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9306:0.0:0.0694:0.0	11.640	0.50486	702	0.57624	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.010870	0.023392	0.050000	0.000000	0.012195	0.003788	0.02632	522.33	38	chr2	9452935	.	A	G	522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=0.094;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr2	9875936	9875936	A	T	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_005680:exon7:c.A625T:p.M209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0133429317933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937710557	4.106e-06	4.104e-06	0	8.253e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.0	0.92824	D	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.037618	0.999695	0.81001	D	1.995	0.54099	M	3.94	0.03408	T	-0.96	0.25551	N	0.714	0.71676	-1.1573	0.00823	T	0.034	0.14552	T	9	0.89380705	0.88730	D	0.013343	0.32667	T	0.263	0.57612	0.793	0.91438	0.544870321563	0.54141	0.5541538769331675	0.55342	0.166112929537	0.18743	0.633054256439	0.57578	T	0.036245	0.24031	T	0.0136571	0.53523	T	-0.218159	0.52913	T	0.444898003106536	0.30609	T	0.651635	0.26249	T	0.3316923	0.55609	0.21191016	0.45639	0.3316923	0.55609	0.21191016	0.45638	-2.945	0.09600	T	.	.	0.323	0.54718	B	.	.	3.635129	0.51511	23.1	0.95474876251849261	0.27027	0.94499	0.61362	D	AEFBI	0.536237	0.55453	D	0.562666947671187	0.70858	5.564	0.540425274275952	0.70732	5.548903	0.980895649500092	0.30191	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	6.042000	0.70632	11.178000	0.88207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	1.0:0.0:0.0:0.0	13.707	0.62126	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1336.33	35	chr2	9875936	.	A	T	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.74;DP=725;ExcessHet=0;FS=4.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.07;SOR=0.974	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr2	9995899	9995899	C	T	exonic	GRHL1	.	nonsynonymous SNV	GRHL1:NM_198182:exon13:c.C1520T:p.P507L	.	.	.	.	.	.	.	.	.	.	.	3967664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0101168702852	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs569314911	5.072e-05	5.267e-05	6.685e-05	3.443e-05	6.129e-05	4.133e-05	3.785e-05	4.911e-05	4.494e-05	5.986e-05	0	0	5.038e-05	0	0	6.129e-05	3.317e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.407e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0	0.654	0.04786	T	0.399	0.15059	T	0.001	0.12996	B	0.001	0.06944	B	0.000012	0.62929	D	0.151046	1	0.81001	D	-0.695	0.01866	N	2.88	0.10291	T	0.23	0.04613	N	0.658	0.70702	-1.0456	0.15650	T	0.032	0.13548	T	10	0.24736333	0.42015	T	0.010117	0.26280	T	0.145	0.38592	0.344	0.33788	0.147330786459	0.14319	0.542103960128118	0.54135	0.400537334798	0.41053	0.490575492382	0.37519	T	0.08317	0.36994	T	-0.244137	0.14824	T	-0.362761	0.37733	T	0.12320414426114	0.14740	T	0.882412	0.60266	D	0.079854615	0.18265	0.06739804	0.13937	0.079854615	0.18265	0.06739804	0.13936	-2.169	0.08055	T	.	.	0.067	0.03407	B	.;.	.;.	2.265996	0.28962	17.97	0.49480869309177605	0.04217	0.94486	0.61321	D	AEFBI	0.563136	0.57044	D	-0.120339329362143	0.36508	2.111177	0.103067083043214	0.44704	2.747124	0.999999786107822	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.622129	0.49086	0	.	.	6.03	6.03	0.97798	3.027000	0.49381	5.887000	0.50713	0.599000	0.40250	0.811000	0.29866	1.000000	0.68203	0.639000	0.32395	0.0:0.8763:0.1237:0.0	17.476	0.87551	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2178.33	158	chr2	9995899	.	C	T	2178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.213;DP=839;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.025;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	18	0	1	0
chr2	10052473	10052473	G	A	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon4:c.G1454A:p.G485E,KLF11:NM_001177718:exon4:c.G1454A:p.G485E,KLF11:NM_003597:exon4:c.G1505A:p.G502E	Maturity-onset diabetes of the young, type VII	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00975025148108	.	.	8.459e-06	0	0	0	0	1.54e-05	0	0	6.5e-06	1	154602	rs776579041	1.231e-05	1.231e-05	1.089e-05	1.375e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.008	0.58626	D	0.011	0.64786	D	0.926	0.51467	P	0.454	0.46241	P	0.179603	0.17139	N	0.629715	0.999998	0.08975	N	2.425	0.70256	M	2.59	0.13552	T	-2.54	0.55501	D	0.113	0.10056	-1.0337	0.19268	T	0.043	0.18659	T	10	0.20233816	0.36349	T	0.00975	0.25449	T	0.062	0.17934	0.285	0.24280	0.665958451526	0.66314	0.21405030828801722	0.21321	0.0776506249003	0.08735	0.238849923015	0.02688	T	0.187875	0.54161	T	-0.231613	0.16436	T	-0.506826	0.21641	T	0.662778556346893	0.39018	D	0.728327	0.34315	T	0.09605263	0.22619	0.13208747	0.31704	0.09605263	0.22618	0.13208747	0.31703	-4.492	0.30784	T	.	.	0.228	0.57579	B	.;.;.	.;.;.	0.950061	0.13263	9.763	0.98140901379724865	0.38605	0.73250	0.35833	D	AEFBI	0.323669	0.42579	N	0.0777947316929397	0.45427	2.799516	0.0162646996758959	0.40470	2.416	0.999999903369323	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.08	5.2	0.71720	1.534000	0.35656	1.007000	0.23304	0.618000	0.50648	0.707000	0.28693	0.000000	0.08366	0.023000	0.12082	0.1296:0.1274:0.743:0.0	8.749	0.33763	816	0.41767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1076.33	33	chr2	10052473	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=697;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.51;SOR=1.024	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1266	18	0	1	0
chr2	10080109	10080109	G	A	exonic	CYS1	.	nonsynonymous SNV	CYS1:NM_001037160:exon1:c.C115T:p.P39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00421334204261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371700952	1.137e-06	6.91e-05	2.136e-06	0	0.0003	0	0	.	.	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.399	0.15059	T	0.84	0.46486	P	0.184	0.35999	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.79	0.21860	N	0.032	0.00825	-1.0356	0.18668	T	0.035	0.14857	T	8	0.13852185	0.26344	T	0.004213	0.10153	T	0.017	0.02790	0.342	0.33464	0.0611884634855	0.05136	0.04306581180124222	0.04251	0.1364358858	0.15394	0.650595545769	0.60070	T	0.529366	0.83685	D	-0.262853	0.12569	T	-0.615346	0.11554	T	0.0463097532928028	0.04841	T	0.30127	0.05674	T	0.045678508	0.07518	0.059973694	0.11346	0.045678508	0.07518	0.059973694	0.11346	-4.05	0.24549	T	.	.	0.079	0.07507	B	.	.	0.007734	0.04336	1.103	0.87950059278364734	0.17603	0.00115	0.00727	N	AEFDBHCI	0.028579	0.02542	N	-0.81269255193085	0.12985	0.6366258	-0.998186377630273	0.09825	0.4911229	0.999999920222225	0.74766	0.495885	0.18260	0	0.166054	0.03914	2	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.27	-0.104	0.12943	-1.095000	0.03466	0.150000	0.15280	-0.334000	0.05750	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.0:0.4225:0.5774:0.0	4.501	0.11275	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	86.18	2	chr2	10080109	.	G	A	86.18	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=112;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.067;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-1.383;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:15:.:.:0,15,225:.	17	0	2	0
chr2	10122869	10122869	G	A	exonic	RRM2	.	nonsynonymous SNV	RRM2:NM_001034:exon1:c.G71A:p.G24E,RRM2:NM_001165931:exon1:c.G251A:p.G84E	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.700128392358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190210026	4.84e-06	5.472e-06	4.121e-06	5.57e-06	3.614e-06	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	0	0	0	3.614e-06	5.012e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.16	0.23721	T	0.163	0.31125	T	0.025	0.19245	B	0.015	0.17295	B	0.884062	0.07254	N	1.051930	1	0.08975	N	1.245	0.31408	L	-4.32	0.97218	D	0.18	0.05810	N	0.17	0.25622	-0.0622	0.80946	T	0.693	0.89418	D	10	0.10631767	0.19695	T	0.700128	0.97545	D	0.283	0.60100	0.196	0.10839	0.336933722576	0.33308	0.2702827300789386	0.26941	1.03228781939	0.75458	0.63330000639	0.57613	T	0.123694	0.44823	T	0.0922227	0.63439	D	-0.105305	0.62983	T	0.137673095442693	0.16072	T	0.861114	0.55479	D	0.06946952	0.15223	0.08627212	0.19977	0.06946952	0.15223	0.08627212	0.19977	-3.454	0.15794	T	.	.	0.123	0.25689	B	.;.;.;.	.;.;.;.	2.572983	0.33343	19.31	0.95585758084004391	0.27299	0.06445	0.12451	N	ALL	0.088127	0.17866	N	-0.800653106897822	0.13294	0.6538555	-0.688636985927849	0.17245	0.9160499	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	1.87	0.24559	0.746000	0.25942	2.738000	0.34441	0.672000	0.70159	0.438000	0.26471	1.000000	0.68203	0.991000	0.66497	0.2632:0.2603:0.4765:0.0	5.807	0.17706	738	0.53389	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1064.33	33	chr2	10122869	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=758;ExcessHet=0;FS=1.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.43;SOR=0.479	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1167	18	0	1	0
chr2	10443519	10443519	A	G	exonic	ODC1	.	nonsynonymous SNV	ODC1:NM_001287188:exon7:c.T250C:p.S84P,ODC1:NM_001287189:exon7:c.T637C:p.S213P,ODC1:NM_001287190:exon7:c.T637C:p.S213P,ODC1:NM_002539:exon7:c.T637C:p.S213P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0195401558443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.16	0.31427	T	0.001	0.07471	B	0.024	0.20255	B	0.000004	0.62929	D	0.108661	0.999997	0.58761	D	2.675	0.78361	M	0.91	0.44856	T	-2.21	0.49684	N	0.775	0.77319	-0.8356	0.52937	T	0.150	0.47663	T	10	0.7526268	0.75749	D	0.01954	0.41929	T	0.281	0.59861	0.58	0.70604	0.789379188279	0.78742	0.9082777495364464	0.90800	0.549821909357	0.51865	0.630944252014	0.57280	T	0.577277	0.86102	D	0.101311	0.64434	D	-0.0922501	0.63992	T	0.920823574066162	0.58018	D	0.940106	0.77361	D	0.8022427	0.84049	0.68194973	0.81307	0.8022427	0.84051	0.68194973	0.81308	-13.086	0.89714	D	.	.	0.933	0.85246	P	.;.	.;.	3.208303	0.43659	21.8	0.99198885158978689	0.55201	0.92226	0.55227	D	AEFDBCI	0.718193	0.66947	D	-0.155850597871292	0.34985	2.003899	-0.0539423602346286	0.37319	2.183541	0.999993423629379	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.79	3.27	0.36580	2.518000	0.45198	2.800000	0.34847	-0.067000	0.16409	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.7497:0.0:0.0:0.2503	10.901	0.46261	968	0.07033	Orn/DAP/Arg decarboxylase 2, C-terminal|Orn/DAP/Arg decarboxylase 2, N-terminal;Orn/DAP/Arg decarboxylase 2, C-terminal|Orn/DAP/Arg decarboxylase 2, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1205.33	35	chr2	10443519	.	A	G	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.404;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	18	0	1	0
chr2	10654492	10654492	T	C	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon11:c.A884G:p.Y295C,NOL10:NM_001261394:exon11:c.A812G:p.Y271C,NOL10:NM_024894:exon12:c.A962G:p.Y321C	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.0419722450288	0.0005	0.000199681	0.0005	0	0.0002	0	0.0011	0.0006	0	0.0007	0.0004786	74	154602	rs200890328	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0	7.433e-05	0.0036	0	0.0016	0.0002	0.0002	0.0005	0.0007	0.0004	0.0004	0.0005	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	7.218e-05	0	0	0.0058	0	0.0012	0	0.0004	0	0.0004	0.026	0.53900	D	0.085	0.43531	T	0.999	0.77913	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	0.93	0.69896	T	-3.66	0.72594	D	0.823	0.84817	-0.5299	0.67545	T	0.351	0.71518	T	10	0.046275854	0.03798	T	0.041972	0.60217	D	0.453	0.75279	.	.	0.674356667512	0.67160	0.6731257684065093	0.67250	0.546123088021	0.51614	0.748301267624	0.74196	T	0.06972	0.33781	T	0.0960087	0.63858	D	0.251852	0.85709	D	0.107252031564713	0.13136	T	0.968203	0.89015	D	0.32057622	0.54689	0.23211601	0.48363	0.32057622	0.54689	0.23211601	0.48362	-7.944	0.60687	D	.	.	0.281	0.51428	B	.;.;.;.	.;.;.;.	4.781385	0.77498	26.7	0.99820385141432655	0.90326	0.97551	0.75491	D	AEFGBCI	0.871973	0.79362	D	0.591222040618958	0.72626	5.835484	0.632112239578077	0.77285	6.64993	0.999999999998837	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.68	5.68	0.88021	7.807000	0.84584	5.024000	0.46770	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.585	0.76216	950	0.11238	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	35	chr2	10654492	.	T	C	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.859;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	18	0	1	0
chr2	10662987	10662987	C	T	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon8:c.G571A:p.A191T,NOL10:NM_001261394:exon9:c.G649A:p.A217T,NOL10:NM_024894:exon9:c.G649A:p.A217T	.	.	.	.	.	.	.	.	.	.	.	2394619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.0568547499767	0.0002	0.000199681	6.659e-05	9.728e-05	0	0.0001	0	7.548e-05	0	6.191e-05	7.12e-05	11	154602	rs141929424	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	8.962e-05	6.708e-05	0	0	3.746e-05	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	9.144e-05	7.7e-05	0.0001	8.877e-05	0.0001	0	6.539e-05	0	0	9.432e-05	0	0.0002	0	0	0.004	0.68238	D	0.007	0.72224	D	0.986	0.61523	D	0.552	0.49293	P	0.000002	0.62929	D	0.102451	1	0.81001	D	2.055	0.56616	M	2.33	0.86146	T	-2.78	0.60507	D	0.758	0.77226	0.340	0.88181	D	0.662	0.88257	D	10	0.44256926	0.58194	T	0.056855	0.66755	D	0.464	0.76023	.	.	0.794323212328	0.79240	0.5155365774787456	0.51476	0.137857802033	0.15542	0.692958593369	0.66131	T	0.069428	0.33706	T	0.0747179	0.61417	D	0.133979	0.79151	D	0.107686733568793	0.13181	T	0.951205	0.83071	D	0.3520841	0.57228	0.42350623	0.66219	0.3520841	0.57228	0.42350623	0.66219	-8.188	0.62741	D	.	.	0.317	0.66957	B	.;.;.;.	.;.;.;.	4.169854	0.62683	24.5	0.99833586455101453	0.91456	0.99383	0.95317	D	AEFBI	0.862849	0.78124	D	0.409582752754991	0.61947	4.403108	0.39078331747079	0.60996	4.293718	0.999999999908833	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	7.840000	0.85068	7.599000	0.61500	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:1.0:0.0:0.0	17.304	0.87078	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	866.33	35	chr2	10662987	.	C	T	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.069;DP=695;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.502;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	18	0	1	0
chr2	11585786	11585786	C	T	exonic	GREB1	.	nonsynonymous SNV	GREB1:NM_014668:exon9:c.C1040T:p.P347L,GREB1:NM_033090:exon9:c.C1040T:p.P347L,GREB1:NM_148903:exon9:c.C1040T:p.P347L	.	424	1097	1	0	0	1	0.000455581	.	.	.	3262428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.305	0.0433572849698	0.0004	.	0.0001	0.0003	0	0	0.0003	0.0002	0	6.058e-05	0.0001164	18	154602	rs149950879	0.0001	0.0001	8.308e-05	0.0001	0.0002	9.12e-05	8.65e-05	9.753e-05	7.056e-05	0.0002	4.472e-05	3.826e-05	2.519e-05	0.0004	0.0002	8.993e-05	8.289e-05	0.0002	7.228e-05	7.223e-05	8.99e-05	5.382e-05	0.0001	3.971e-05	3.127e-05	2.261e-05	9.07e-06	4.824e-05	0	0.0001	0	0	0.0004	0	4.409e-05	0	0	0.028	0.72154	D	0.002	0.79402	D	0.995	0.90584	D	0.742	0.92359	P	0.131531	0.18619	N	0.565543	1	0.81001	D	2.215	0.62545	M	3.09	0.20664	T	-4.79	0.83292	D	0.626	0.64478	-0.9383	0.42885	T	0.150	0.47787	T	10	0.6092783	0.67351	D	0.043357	0.60941	D	0.305	0.62620	.	.	0.574775486166	0.57145	0.35197198321597334	0.35111	1.16914040415	0.79708	0.493460416794	0.37918	T	0.075261	0.35135	T	-0.165418	0.25931	T	-0.179196	0.56597	T	0.980812609195709	0.73564	D	0.820118	0.47860	T	0.16342434	0.36484	0.2000535	0.43918	0.16342434	0.36483	0.2000535	0.43917	-5.247	0.39416	T	.	.	0.095	0.35602	B	.;.;.;.	.;.;.;.	4.449397	0.69149	25.3	0.99861339258055626	0.94002	0.96048	0.67297	D	AEFBCI	0.805602	0.73014	D	0.609418714190651	0.73769	6.020643	0.551325433846625	0.71490	5.662679	0.999999998017261	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	5.903000	0.69616	7.381000	0.58454	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0:1.0:0.0:0.0	19.289	0.94076	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2431.33	33	chr2	11585786	.	C	T	2431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.42;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr2	15179040	15179040	C	T	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon51:c.G6788A:p.R2263Q	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	1370995	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.0119887026774	.	0.000199681	2.475e-05	0	0	0	0	1.501e-05	0	0.0001	2.59e-05	4	154602	rs574794539	1.026e-05	1.026e-05	9.528e-06	1.1e-05	6.956e-05	6.16e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.093e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.07425	T	0.537	0.12920	T	0.0	0.02946	B	0.001	0.04355	B	0.243171	0.03596	N	1.426570	1	0.08975	N	-0.57	0.02306	N	1.49	0.31470	T	0.42	0.03352	N	0.084	0.06059	-0.8593	0.51312	T	0.017	0.07045	T	10	0.01325953	0.00282	T	0.011989	0.30154	T	0.075	0.21907	0.16	0.06396	0.0884992946249	0.08302	0.04295277915036738	0.04240	0.0411434871768	0.04416	0.193428441882	0.00292	T	0.003173	0.02576	T	-0.47608	0.00780	T	-0.661953	0.08135	T	0.0249752308292459	0.01269	T	0.749425	0.37065	T	0.014464926	0.00094	0.02294129	0.00311	0.014464926	0.00094	0.02294129	0.00311	-2.943	0.09580	T	0.06375599853847652	0.01983	0.066	0.02118	B	.;.	.;.	-2.152406	0.00072	0.001	0.75376535251164378	0.11051	0.00581	0.02619	N	AEFBI	0.033015	0.03838	N	-2.3007698657247	0.00045	0.001944671	-2.35751954259985	0.00049	0.002166728	0.999999999200065	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.98	-12.0	0.00013	-1.909000	0.01677	-7.891000	0.01066	-1.890000	0.00534	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0698:0.3522:0.2832:0.2948	5.600	0.16629	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1043.33	36	chr2	15179040	.	C	T	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=758;ExcessHet=0;FS=3.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.113;SOR=0.392	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1412	18	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3939.83	36	chr2	17515931	.	A	T	3939.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.89;DP=1670;ExcessHet=0.119;FS=0.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.038;SOR=0.648	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	17	0	2	0
chr2	17515949	17515949	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2467A:p.E823K,RAD51AP2:NM_001321233:exon5:c.G2440A:p.E814K	.	465	1032	19	6	0	31	0.0147971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0163909089931	0.0005	0.00139776	0.0013	0.0001	0.0003	0.0001	0	0.0007	0.0022	0.0061	0.0011966	185	154602	rs200839059	0.0007	0.0007	0.0006	0.0009	0.0115	0.0007	0.0007	0.0093	0.0085	0.0003	0.0006	3.872e-05	2.523e-05	3.749e-05	0.0115	0.0004	0.0014	0.0055	0.0006	0.0006	0.0006	0.0006	0.0056	0.0005	0.0004	0.0039	0.0034	4.816e-05	0.0055	0.0003	0	0	0	0.0102	0.0007	0.0009	0.0056	0.104	0.29959	T	0.228	0.25286	T	0.291	0.32334	B	0.104	0.31021	B	.	.	.	.	0.994703	0.23461	N	1.495	0.37439	L	1.56	0.29602	T	-3.0	0.62343	D	0.121	0.11197	-1.0343	0.19078	T	0.043	0.18618	T	9	0.0035848916	0.00065	T	0.016391	0.37623	T	0.023	0.04649	.	.	0.0762999501168	0.06990	0.12502909475306234	0.12428	0.193676693531	0.21702	0.312975645065	0.12357	T	0.056045	0.30176	T	-0.584674	0.00180	T	-0.610286	0.11962	T	0.0282026903138227	0.01718	T	0.545245	0.18642	T	0.118087195	0.27828	0.15146059	0.35677	0.118087195	0.27827	0.15146059	0.35676	-3.821	0.21119	T	.	.	0.089	0.12084	B	.	.	1.086664	0.14700	11.25	0.96544589751197807	0.30200	0.16082	0.19222	N	AEFDGBI	0.051531	0.09114	N	-0.990126314634138	0.08813	0.414711	-1.00766644292951	0.09616	0.4794292	0.870676253259279	0.25410	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	1.45	0.21708	0.091000	0.14885	0.265000	0.16590	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.7055:0.0:0.2945	9.610	0.38821	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.008152	0.008772	0.000000	0.008621	0.006135	0.015152	0.02632	1391.33	36	chr2	17515949	.	C	T	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=1480;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.817;SOR=0.711	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr2	17516179	17516179	C	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.G2237A:p.R746Q,RAD51AP2:NM_001321233:exon5:c.G2210A:p.R737Q	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0002	0.000798722	0.0019	0.0001	0.0005	0	0.0003	0.0007	0.0033	0.0105	0.00163	252	154602	rs200773447	0.0011	0.0011	0.0007	0.0015	0.0117	0.0011	0.0010	0.0111	0.0109	2.989e-05	0.0007	0.0058	5.045e-05	5.638e-05	0.0089	0.0002	0.0015	0.0117	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	4.81e-05	0	0.0012	0.0032	0	0.0002	0.0068	0.0003	0.0005	0.0087	0.632	0.05121	T	0.591	0.08189	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	1.98	0.21865	T	0.79	0.01893	N	0.025	0.00485	-0.9490	0.41143	T	0.023	0.09604	T	9	0.0025319457	0.00038	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.028590898453410923	0.02809	0.0693334402013	0.07761	0.246480032802	0.03406	T	7.49E-4	0.00347	T	-0.663463	0.00060	T	-0.7164	0.04971	T	0.00516449866850072	0.00056	T	0.217878	0.02755	T	0.034361023	0.03840	0.06580975	0.13390	0.034361023	0.03840	0.06580975	0.13390	-2.718	0.07455	T	.	.	0.086	0.10787	B	.	.	0.467568	0.08370	5.125	0.33072046989265746	0.01951	0.00190	0.01102	N	AEFBI	0.025622	0.01787	N	-1.30129592362483	0.03661	0.1639218	-1.26842011852566	0.04864	0.2304515	0.0225252316555484	0.13437	0.446893	0.09132	0	0.491513	0.07743	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.25	1.84	0.24348	-0.451000	0.06869	-0.971000	0.06745	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.618000	0.31844	0.0:0.3654:0.0:0.6346	7.759	0.28105	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	4411.83	36	chr2	17516179	.	C	T	4411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=1462;ExcessHet=0.119;FS=0.833;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.882;SOR=0.628	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	17	0	2	0
chr2	17703266	17703266	T	C	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon18:c.A2033G:p.K678R,SMC6:NM_001142286:exon19:c.A2033G:p.K678R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00997281987407	.	.	4.981e-05	0	8.688e-05	0	0	7.525e-05	0	0	3.88e-05	6	154602	rs746393867	1.377e-05	1.505e-05	1.096e-05	1.662e-05	2.35e-05	9e-06	7.31e-06	9.34e-06	7.64e-06	0	2.35e-05	0	0	0	0	1.534e-05	1.666e-05	1.188e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.574	0.09989	T	0.739	0.05054	T	0.067	0.25437	B	0.092	0.30031	B	0.000652	0.42656	D	0.273852	0.997902	0.22451	N	1.555	0.39373	L	2.56	0.30133	T	-1.44	0.35597	N	0.134	0.13055	-1.0160	0.25013	T	0.046	0.19559	T	10	0.06867799	0.09746	T	0.009973	0.25946	T	0.112	0.31546	.	.	0.45063746488	0.44684	0.4814624249199758	0.48066	0.264083622644	0.28960	0.430944859982	0.29337	T	0.049419	0.28301	T	-0.277455	0.10940	T	-0.44333	0.28436	T	0.0680532322042851	0.08376	T	0.684832	0.29327	T	0.045573022	0.07481	0.058302917	0.10752	0.045573022	0.07481	0.058302917	0.10751	-5.415	0.41063	T	.	.	0.083	0.09433	B	.;.;.;.	.;.;.;.	2.237587	0.28571	17.84	0.96776308123045918	0.31057	0.87964	0.47691	D	AEFGBI	0.107620	0.21436	N	-0.279536888089543	0.29939	1.664827	-0.0976824734315523	0.35485	2.053596	0.964460018604297	0.28761	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	2.286000	0.43158	4.984000	0.46482	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.495000	0.28905	0.1295:0.0696:0.0:0.801	7.273	0.25443	543	0.72751	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	434.33	24	chr2	17703266	.	T	C	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.136;DP=700;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.155;SOR=0.303	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,925	18	0	1	0
chr2	17718077	17718077	C	G	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon11:c.G1092C:p.E364D,SMC6:NM_001142286:exon12:c.G1092C:p.E364D	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0212465142959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.847e-05	1.373e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.068	0.49942	T	0.94	0.77913	P	0.796	0.75793	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.305	0.65957	M	1.52	0.30669	T	-2.49	0.54217	N	0.456	0.49328	-0.9945	0.31432	T	0.143	0.46459	T	9	0.5550543	0.64470	D	0.021247	0.43989	T	0.201	0.48592	0.72	0.85496	0.439445477881	0.43565	0.39608735440883663	0.39523	0.785247102179	0.65485	0.576108396053	0.49537	T	0.117911	0.43834	T	-0.126733	0.32025	T	-0.419819	0.31095	T	0.95919793844223	0.65469	D	0.882812	0.61002	D	0.4057743	0.61131	0.30099767	0.56132	0.4057743	0.61131	0.30099767	0.56132	-4.967	0.36479	T	.	.	0.496	0.64380	A	.;.;.;.;.	.;.;.;.;.	5.135708	0.85965	28.8	0.99795594030637791	0.88106	0.94334	0.60835	D	AEFBHCI	0.722747	0.67258	D	0.443120586177463	0.63814	4.622516	0.423846892171514	0.63056	4.531784	0.999999999395155	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.59	0.40253	4.629000	0.60988	4.754000	0.44676	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.8588:0.0:0.1412	11.912	0.52030	533	0.73433	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.54	26	chr2	17718077	.	C	G	118.54	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.054;DP=442;ExcessHet=0.2119;FS=56.97;InbreedingCoeff=0.1338;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=1.3;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,0:.	8	0	2	9
chr2	17773130	17773130	G	A	exonic	GEN1	.	nonsynonymous SNV	GEN1:NM_001130009:exon9:c.G988A:p.E330K,GEN1:NM_182625:exon9:c.G988A:p.E330K	.	444	1037	38	3	0	44	0.0207743	0.8458	0.612	.	1153896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.129	.	0.0065	0.0109824	0.0090	0.0125	0.0168	0.0001	0.0006	0.0057	0.0046	0.0229	0.0081176	1255	154602	rs115591812	0.0051	0.0052	0.0046	0.0055	0.0226	0.0050	0.0049	0.0217	0.0214	0.0112	0.0155	0.0049	0.0001	0.0011	0.0100	0.0034	0.0055	0.0226	0.0069	0.0069	0.0066	0.0072	0.0246	0.0066	0.0064	0.0210	0.0196	0.0112	0	0.0113	0.0049	0.0004	0.0004	0.0034	0.0038	0.0057	0.0246	0.062	0.36912	T	0.306	0.52389	T	0.002	0.09854	B	0.008	0.13708	B	0.000089	0.51296	D	0.073572	0.993258	0.81001	D	2.34	0.67151	M	0.95	0.43279	T	-2.53	0.54864	D	0.417	0.45709	-1.0641	0.10760	T	0.061	0.25419	T	10	0.00735268	0.00167	T	.	.	.	0.129	0.35316	.	.	0.582419091513	0.57913	0.5424418462297097	0.54169	0.037371724948	0.03961	0.545475900173	0.45219	T	0.019616	0.15597	T	-0.397063	0.02420	T	-0.325545	0.41964	T	0.0231760836256966	0.01044	T	0.873313	0.58144	D	0.60072464	0.72730	0.34498465	0.60188	0.60072464	0.72731	0.34498465	0.60188	-11.133	0.80382	D	.	.	0.149	0.33481	B	.;.;.	.;.;.	3.941149	0.57670	23.9	0.99688215440035388	0.79775	0.94390	0.61013	D	AEFGBI	0.342094	0.43836	N	-0.00866507055022603	0.41463	2.480468	0.1538148455974	0.47344	2.966091	0.991446762099155	0.32491	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.25	5.25	0.73169	2.280000	0.43103	6.704000	0.56380	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.1442:0.8558:0.0	14.782	0.69398	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009596	0.005102	0.005435	0.011765	0.000000	0.008621	0.018405	0.011364	0.02632	442.33	56	chr2	17773130	.	G	A	442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.21;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.617;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr2	17931679	17931679	G	A	exonic	KCNS3	.	nonsynonymous SNV	KCNS3:NM_001282428:exon3:c.G671A:p.G224E,KCNS3:NM_002252:exon3:c.G671A:p.G224E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0510251243608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.541e-05	0	0	0	2.519e-05	0	0.0005	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.291	0.20944	T	0.174	0.28827	B	0.166	0.35067	B	0.003481	0.34874	N	0.307812	0.948607	0.37617	D	1.79	0.46772	L	-4.37	0.97343	D	0.95	0.01509	N	0.533	0.56317	0.452	0.89861	D	0.811	0.93614	D	10	0.44936258	0.58600	T	0.051025	0.64488	D	0.462	0.75889	0.482	0.56302	0.994377070842	0.99431	0.6169051346210884	0.61622	0.581682399096	0.53958	0.474536836147	0.35306	T	0.337591	0.70695	T	0.173385	0.71434	D	0.0112798	0.71064	D	0.487073123455048	0.32157	T	0.836716	0.50835	T	0.048051044	0.08314	0.08709459	0.20222	0.048051044	0.08314	0.08709459	0.20222	-6.371	0.49283	T	.	.	0.293	0.54265	B	.;.	.;.	2.605945	0.33832	19.46	0.94906268821850426	0.25763	0.86876	0.46255	D	AEFBI	0.252597	0.37225	N	0.080405792413933	0.45549	2.80959	0.24344910637771	0.52278	3.403677	0.0148561322583962	0.12646	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.07	5.18	0.71140	2.470000	0.44777	6.284000	0.55386	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.943000	0.48514	0.0:0.231:0.533:0.236	8.004	0.29473	398	0.82839	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2965.33	157	chr2	17931679	.	G	A	2965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.461;DP=2093;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.417;SOR=1.012	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	18	0	1	0
chr2	18586369	18586369	C	T	exonic	NT5C1B;NT5C1B-RDH14	.	nonsynonymous SNV	NT5C1B-RDH14:NM_001199103:exon3:c.G143A:p.R48Q,NT5C1B:NM_033253:exon3:c.G143A:p.R48Q,NT5C1B:NM_001002006:exon4:c.G323A:p.R108Q,NT5C1B:NM_001199086:exon4:c.G272A:p.R91Q,NT5C1B:NM_001199087:exon4:c.G374A:p.R125Q,NT5C1B:NM_001199088:exon4:c.G323A:p.R108Q,NT5C1B-RDH14:NM_001199104:exon4:c.G323A:p.R108Q	.	.	.	.	.	.	.	.	.	.	.	4035300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0185663404648	7.7e-05	0.000199681	0.0002	0.0002	0.0010	0	0	8.999e-05	0.0022	0.0002	0.000207	32	154602	rs142174343	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0002	0.0007	0	0.0001	1.872e-05	0.0003	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.701e-05	0.0001	0.0001	0.0002	0	6.539e-05	0	0	0	0	0.0002	0	0.0004	0.263	0.16412	T	0.352	0.42261	T	0.0	0.12996	B	0.0	0.04355	B	0.838318	0.06984	N	1.087140	1	0.08975	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.16	0.09460	N	0.126	0.11912	-0.7812	0.56235	T	0.351	0.71494	T	10	0.02041331	0.00470	T	0.018566	0.40677	T	0.190	0.46781	.	.	0.359357374593	0.35551	0.08682586276288319	0.08616	0.210819982291	0.23697	.	.	.	0.039761	0.25301	T	-0.347545	0.04883	T	-0.396452	0.33797	T	0.00276035768911242	0.00029	T	0.774523	0.40643	T	0.028543588	0.02207	0.029702142	0.01339	0.028543588	0.02206	0.029702142	0.01338	-4.427	0.32297	T	.	.	0.075	0.10062	B	.;.;.;.;.	.;.;.;.;.	0.274725	0.06519	3.003	0.88178239172764306	0.17776	0.00801	0.03263	N	AEFBI	0.025239	0.01695	N	-1.37304416489769	0.02893	0.1284196	-1.41737910403805	0.03078	0.1428836	0.99687969703263	0.35080	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.04	-2.85	0.05392	-0.332000	0.07948	0.180000	0.15620	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0861:0.1315:0.2736:0.5087	3.696	0.07898	896	0.25515	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	33	chr2	18586369	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=723;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.642;SOR=0.587	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	19953904	19953904	G	A	exonic	WDR35	.	nonsynonymous SNV	WDR35:NM_020779:exon12:c.C1330T:p.R444C,WDR35:NM_001006657:exon13:c.C1363T:p.R455C	Cranioectodermal dysplasia 2, Autosomal recessive;Short-rib thoracic dysplasia 7 with or without polydactyly, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1372487	Cranioectodermal_dysplasia_2|Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.869	0.214607601372	7.7e-05	0.000599042	9.885e-05	9.612e-05	8.637e-05	0	0	0.0001	0	0.0001	0.0001164	18	154602	rs148510977	6.362e-05	6.43e-05	5.581e-05	7.151e-05	0.0003	5.295e-05	4.911e-05	0.0002	0.0002	0.0003	0.0003	3.827e-05	0	0	0.0002	4.856e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0006	0	0.0002	0	0	7.351e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	0.998	0.73220	D	0.785	0.57495	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-2.88	0.91533	D	-5.53	0.86073	D	0.658	0.68082	0.899	0.95659	D	0.870	0.95664	D	10	0.64726526	0.69398	D	0.214608	0.87466	D	0.869	0.96059	.	.	0.937330376352	0.93667	0.6717399616663976	0.67111	0.499295131401	0.48378	0.595824718475	0.52315	T	0.276068	0.64864	T	0.214378	0.75244	D	0.376139	0.91290	D	0.628755629062653	0.37566	D	0.985835	0.95215	D	0.46877182	0.65214	0.4956106	0.70831	0.46877182	0.65215	0.4956106	0.70831	-10.259	0.77545	D	0.4993043249088026	0.57480	0.224	0.53815	B	.;.	.;.	4.966706	0.82161	27.7	0.99929745880135079	0.99279	0.97038	0.72331	D	AEFBI	0.838559	0.75606	D	0.762314131097214	0.83705	8.087718	0.756372907968317	0.86633	8.951993	0.999960536837667	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	5.473000	0.66502	7.581000	0.60964	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.696	0.91561	948	0.11499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2086.33	40	chr2	19953904	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=735;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.45;ReadPosRankSum=2.04;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	18	0	1	0
chr2	20308537	20308537	C	T	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282752:exon5:c.G398A:p.R133H,PUM2:NM_001282790:exon5:c.G566A:p.R189H,PUM2:NM_001282791:exon6:c.G398A:p.R133H,PUM2:NM_001352917:exon6:c.G566A:p.R189H,PUM2:NM_001352918:exon6:c.G566A:p.R189H,PUM2:NM_001352919:exon6:c.G566A:p.R189H,PUM2:NM_001352920:exon6:c.G566A:p.R189H,PUM2:NM_001352923:exon6:c.G566A:p.R189H,PUM2:NM_001352925:exon6:c.G566A:p.R189H,PUM2:NM_001352926:exon6:c.G566A:p.R189H,PUM2:NM_001352927:exon6:c.G566A:p.R189H,PUM2:NM_001352928:exon6:c.G566A:p.R189H,PUM2:NM_015317:exon6:c.G566A:p.R189H,PUM2:NM_001352929:exon7:c.G398A:p.R133H	.	.	.	.	.	.	.	.	.	.	.	3582270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0146109401228	.	.	5.803e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs773602472	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0003	0.0002	2.988e-05	0	0	0.0005	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.109	0.37449	T	0.996	0.68779	D	0.796	0.58006	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.22	0.18875	T	-0.68	0.26639	N	0.628	0.65245	-1.1067	0.03369	T	0.087	0.33802	T	10	0.09733656	0.17524	T	0.014611	0.34839	T	0.132	0.35948	0.195	0.10705	0.184605227958	0.18053	0.29254994196472944	0.29167	1.20288586385	0.80593	0.643659949303	0.59085	T	0.021506	0.20509	T	-0.231671	0.16429	T	-0.19471	0.55147	T	0.266427731193125	0.23594	T	0.979602	0.95194	D	.	.	.	.	.	.	.	.	-5.084	0.38054	T	.	.	0.126	0.26700	B	.;.;.;.;.;.	.;.;.;.;.;.	5.203464	0.87303	29.2	0.9994505745873985	0.99886	0.98985	0.89557	D	AEFDBI	0.794263	0.72202	D	0.387587286900382	0.60749	4.267292	0.46792257560914	0.65877	4.879502	0.999999982313721	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	5.2	0.71720	4.917000	0.63068	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9333:0.0:0.0667	15.299	0.73631	829	0.39537	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1517.33	36	chr2	20308537	.	C	T	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=754;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.195;SOR=0.558	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	20619129	20619129	A	C	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon7:c.T1037G:p.V346G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0109265782619	.	0.000798722	0.0004	0	0	0.0053	0	0	0.0011	0	0.0003299	51	154602	rs183773608	0.0002	0.0003	0.0002	0.0003	0.0089	0.0002	0.0002	0.0081	0.0078	0	0	0	0.0089	0	0	1.799e-06	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0035	0	0	0	0	0.0056	9.506e-05	0	1.472e-05	0.0005	0	0.035	0.43708	D	0.368	0.16570	T	0.002	0.09854	B	0.003	0.08700	B	0.493734	0.05051	N	1.341480	1	0.08975	N	1.735	0.44892	L	2.12	0.19726	T	-1.85	0.43334	N	0.125	0.11769	-0.9939	0.31591	T	0.034	0.14464	T	10	0.0042313337	0.00085	T	0.010927	0.28020	T	0.031	0.07369	.	.	0.193865811164	0.18958	0.2064622341911485	0.20563	0.172126857099	0.19387	0.248938858509	0.03656	T	0.006293	0.05726	T	-0.565388	0.00236	T	-0.584101	0.14181	T	0.0298435777309106	0.01965	T	0.413959	0.10802	T	0.09398987	0.22088	0.087375976	0.20305	0.09398987	0.22088	0.087375976	0.20304	-5.728	0.43942	T	.	.	0.120	0.24800	B	.	.	1.313624	0.17168	13.00	0.93399428828064579	0.23157	0.11881	0.16921	N	AEFGBCI	0.117574	0.23027	N	-0.80725347869874	0.13124	0.6443807	-0.798806666344339	0.14525	0.7593352	0.999999697704589	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.47	3.11	0.34883	0.234000	0.17708	1.190000	0.24759	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.668000	0.33194	0.8179:0.0:0.1821:0.0	6.926	0.23596	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1482.33	42	chr2	20619129	.	A	C	1482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.243;SOR=0.62	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	18	0	1	0
chr2	20641041	20641041	T	C	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon3:c.A338G:p.N113S	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0163655321103	.	0.00179712	0.0013	0	0.0003	0.0001	0	2.998e-05	0.0011	0.0090	0.001119	173	154602	rs376248399	0.0006	0.0006	0.0004	0.0008	0.0092	0.0006	0.0005	0.0087	0.0085	0	2.236e-05	0	0.0001	0	0.0009	2.158e-05	0.0007	0.0092	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0	0	0	0	0	1.47e-05	0	0.0114	0.063	0.36709	T	0.031	0.53788	D	0.011	0.15914	B	0.013	0.16460	B	0.179480	0.17143	N	0.561406	0.937854	0.26879	N	1.525	0.38595	L	-0.41	0.69413	T	-1.68	0.40850	N	0.249	0.30233	-0.8618	0.51133	T	0.208	0.56730	T	10	0.0049257874	0.00105	T	0.016366	0.37594	T	0.104	0.29647	0.477	0.55502	0.534431409017	0.53093	0.34571434252963934	0.34485	0.108227509967	0.12199	0.284507215023	0.08129	T	0.015085	0.12720	T	-0.448513	0.01153	T	-0.41092	0.32118	T	0.0480455143978828	0.05151	T	0.757724	0.38671	T	0.06723699	0.14542	0.10541231	0.25339	0.06723699	0.14541	0.10541231	0.25338	-8.892	0.66999	D	.	.	0.069	0.07272	B	.;.;.	.;.;.	2.224152	0.28387	17.78	0.98948413151015258	0.49093	0.89530	0.50053	D	AEFDGBI	0.534765	0.55367	D	-0.300508162559785	0.29129	1.612671	-0.206665182128255	0.31296	1.769829	0.999999778388873	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.65	3.5	0.39181	3.935000	0.56272	1.110000	0.24149	0.660000	0.55035	0.999000	0.42656	0.002000	0.18203	0.998000	0.85391	0.0:0.0813:0.0:0.9187	9.861	0.40285	850	0.35610	Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	2971.33	33	chr2	20641041	.	T	C	2971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.439;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.255;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr2	20641063	20641063	G	A	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon3:c.C316T:p.R106W	.	413	1090	19	0	0	19	0.00864029	.	.	.	2815565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0048	0.00339457	0.0062	0.0013	0.0022	0	0.0109	0.0063	0.0121	0.0125	0.0059702	923	154602	rs77551133	0.0064	0.0064	0.0062	0.0065	0.0121	0.0063	0.0062	0.0115	0.0113	0.0009	0.0020	0.0025	2.519e-05	0.0123	0.0052	0.0064	0.0045	0.0121	0.0046	0.0046	0.0043	0.0050	0.0102	0.0044	0.0042	0.0079	0.0071	0.0012	0	0.0022	0.0023	0	0.0153	0	0.0058	0.0047	0.0102	0.054	0.48186	T	0.032	0.70582	D	0.997	0.77913	D	0.765	0.56630	P	0.092385	0.20277	N	0.446588	0.594034	0.30996	N	1.95	0.52479	M	1.02	0.40749	T	-4.21	0.75776	D	0.341	0.38232	-0.7344	0.58740	T	0.122	0.42272	T	10	0.009174973	0.00207	T	.	.	.	0.259	0.57090	.	.	0.705520150151	0.70295	0.5890232378770209	0.58832	0.600032869069	0.55099	0.298230230808	0.10138	T	0.086352	0.37705	T	-0.397794	0.02394	T	-0.332504	0.41190	T	0.0378201190708157	0.03301	T	0.807619	0.45757	T	0.160197	0.35944	0.16618338	0.38405	0.160197	0.35944	0.16618338	0.38404	-10.295	0.75659	D	.	.	0.113	0.40328	B	.;.;.	.;.;.	5.055280	0.84232	28.3	0.99912922628318579	0.98167	0.82479	0.41700	D	AEFDGBI	0.585698	0.58402	D	0.478639783646004	0.65843	4.87388	0.467781191708504	0.65866	4.878311	0.999999785074722	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.65	4.65	0.57626	2.659000	0.46406	6.552000	0.55914	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0949:0.0:0.9051:0.0	11.576	0.50116	850	0.35610	Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.05263	4535.83	33	chr2	20641063	.	G	A	4535.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.94;DP=954;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.328;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	17	0	2	0
chr2	20667449	20667460	CCGCGCCGCGCG	-	exonic	GDF7	.	nonframeshift deletion	GDF7:NM_182828:exon1:c.210_221del:p.R74_A77del	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	.	0.2857	.	0.5	.	0.25	0.35	.	0.25	0.0006531	17	26028	rs776133674	0.0095	0.0078	0.0095	0.0096	0.0127	0.0094	0.0093	0.0116	0.0111	0.0016	0.0026	0.0012	0	0.0327	0.0093	0.0097	0.0074	0.0127	0.0068	0.0070	0.0058	0.0078	0.0111	0.0064	0.0063	0.0087	0.0079	0.0016	0	0.0020	0.0006	0	0.0298	0	0.0087	0.0054	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1682.79	14	chr2	20667448	.	CCCGCGCCGCGCG	C	1682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=488;ExcessHet=0.119;FS=3.628;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=0;SOR=1.215	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,585	17	0	2	0
chr2	20670772	20670772	C	A	exonic	GDF7	.	nonsynonymous SNV	GDF7:NM_182828:exon2:c.C700A:p.L234M	.	419	1067	34	2	0	38	0.0174954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0026	0.00219649	0.0113	0	0	0	0	0.0237	0.0179	0.0083	0.0018046	279	154602	rs184953707	0.0082	0.0079	0.0082	0.0083	0.0382	0.0081	0.0081	0.0334	0.0316	0.0027	0.0048	0.0069	3.084e-05	0.0030	0.0382	0.0090	0.0084	0.0046	0.0060	0.0060	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0012	0.0296	0.0064	0.0081	0.0002	0.0009	0.0582	0.0094	0.0113	0.0048	0.03	0.45393	D	0.006	0.70582	D	0.997	0.70673	D	0.942	0.67772	D	0.000528	0.00629	U	121.660000	0.69947	0.30117	N	2.55	0.74443	M	-0.62	0.71895	T	-1.84	0.43149	N	0.273	0.30914	-0.7361	0.58653	T	0.381	0.73796	T	10	0.0078290105	0.00178	T	.	.	.	0.193	0.47281	.	.	0.635529869896	0.63253	0.504431532661327	0.50365	.	.	0.830165207386	0.86588	D	0.440769	0.78555	T	-0.410947	0.01959	T	-0.353678	0.38782	T	0.0229795204709291	0.01021	T	0.455554	0.13039	T	0.14518051	0.33292	0.19504318	0.43159	0.14518051	0.33292	0.19504318	0.43158	-8.269	0.62888	D	.	.	0.457	0.62557	A	.	.	2.102262	0.26750	17.23	0.98257961501667279	0.39639	0.37897	0.25866	N	AEFDBCI	0.080438	0.16263	N	-0.425792003779726	0.24567	1.327473	-0.672964456356806	0.17638	0.938766	0.999995761145897	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.6	0.537	0.16337	0.253000	0.18066	-0.144000	0.11487	-0.257000	0.07002	0.006000	0.17386	0.000000	0.08366	0.292000	0.24309	0.1538:0.6628:0.0:0.1834	5.622	0.16738	883	0.28872	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.049881	0.025974	0.050000	0.112903	0.000000	0.076087	0.048276	0.000000	0.05263	1785.83	44	chr2	20670772	.	C	A	1785.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=712;ExcessHet=0.119;FS=7.435;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.31;SOR=0.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1138:.	17	0	2	0
chr2	21005514	21005514	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.C11354T:p.T3785I	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	285090	APOB-related_disorder|Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_provided|Hypercholesterolemia,_familial,_1	.|MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00791888410041	0.0004	0.000199681	0.0006	0	8.658e-05	0.0001	0	0.0005	0.0022	0.0016	0.0004722	73	154602	rs143710616	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0019	0.0018	5.976e-05	0.0001	0	2.519e-05	0	0.0024	0.0003	0.0004	0.0021	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	7.221e-05	0	0	0	0	0	0.0034	0.0003	0.0014	0.0012	0.194	0.20835	T	0.005	0.72224	D	.	.	.	.	.	.	0.334610	0.04151	N	1.455970	1	0.08975	N	.	.	.	5.79	0.00674	T	-1.84	0.43149	N	0.125	0.11769	-0.9472	0.41448	T	0.003	0.01092	T	10	0.012298077	0.00265	T	0.007919	0.21007	T	0.024	0.04979	.	.	0.31411915649	0.31020	0.4583545464643379	0.45753	0.0386577791827	0.04113	0.207481980324	0.00709	T	.	.	.	-0.654439	0.00068	T	-0.719617	0.04814	T	0.0219539528332851	0.00903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16582	B	.	.	0.525888	0.08949	5.727	0.94133578746085422	0.24319	0.17954	0.20058	N	AEFBCI	0.401570	0.47600	N	-0.966642498518556	0.09322	0.4407507	-1.09245490083276	0.07848	0.3834083	0.998814216776067	0.37733	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.57	-3.7	0.04150	0.331000	0.19477	-0.157000	0.11360	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.4757:0.0:0.4129:0.1114	6.613	0.21958	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.008621	0.000000	0.003788	0.02632	10500.3	39	chr2	21005514	.	G	A	10500.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.635;DP=1460;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.351;SOR=0.691	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr2	21010161	21010161	A	G	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.T6707C:p.I2236T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	908214	Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1	MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0125308001126	.	.	8.462e-06	0	0	0	0	1.543e-05	0	0	6.5e-06	1	154602	rs781584312	8.966e-06	9.577e-06	6.84e-06	1.113e-05	0.0002	5e-06	3.86e-06	5.35e-06	3.91e-06	0	0	0	0	0	0.0002	9.967e-06	1.671e-05	0	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.091	0.31834	T	0.219	0.25987	T	.	.	.	.	.	.	0.646638	0.10551	N	0.837947	0.999695	0.20667	N	.	.	.	5.41	0.01008	T	-2.2	0.49519	N	0.056	0.02759	-0.7312	0.58903	T	0.003	0.01092	T	10	0.114061385	0.21447	T	0.012531	0.31184	T	0.088	0.25558	.	.	0.567569374525	0.56422	0.5094205167977288	0.50864	0.0691614642767	0.07740	0.290775895119	0.09035	T	.	.	.	-0.310261	0.07726	T	-0.667959	0.07740	T	0.0550193267242428	0.06361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00604	B	.	.	2.063217	0.26232	17.05	0.87718046780470038	0.17430	0.88442	0.48372	D	AEFBCI	0.580081	0.58064	D	-0.364600464647266	0.26739	1.461624	-0.218146160891459	0.30885	1.742918	0.999874198840801	0.44625	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.76	4.61	0.56724	3.581000	0.53658	6.122000	0.53799	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.870000	0.41412	0.758:0.0:0.075:0.167	6.740	0.22621	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5943.33	41	chr2	21010161	.	A	G	5943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.787;DP=2282;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.982;SOR=0.589	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr2	21015495	21015495	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.G3383A:p.R1128H	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	265379	APOB-related_disorder|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided	.|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.184	0.0257199592383	0.0032	0.00279553	0.0037	0.0008	0.0032	0.0001	0.0018	0.0041	0	0.0070	0.0037063	573	154602	rs12713843	0.0046	0.0046	0.0046	0.0046	0.0068	0.0045	0.0045	0.0056	0.0055	0.0009	0.0037	0.0001	2.519e-05	0.0023	0.0068	0.0050	0.0050	0.0061	0.0038	0.0038	0.0041	0.0034	0.0079	0.0035	0.0034	0.0059	0.0052	0.0007	0	0.0044	0	0.0004	0.0021	0	0.0059	0.0057	0.0079	0.096	0.31088	T	0.002	0.79402	D	.	.	.	.	.	.	0.000295	0.46274	N	0.096408	0.533726	0.31996	D	.	.	.	5.65	0.00784	T	-1.68	0.40082	N	0.372	0.41360	-0.7674	0.57000	T	0.003	0.01026	T	10	0.007625997	0.00173	T	0.02572	0.48675	D	0.184	0.45763	.	.	0.530852358449	0.52733	0.5349439724085757	0.53419	0.0427700385688	0.04614	0.22615134716	0.01696	T	.	.	.	-0.397544	0.02403	T	-0.337282	0.40654	T	0.0214380577430334	0.00847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	2.995653	0.40013	21.1	0.99908515955343014	0.97875	0.75412	0.36921	D	AEFBHCI	0.230590	0.35395	N	-0.0202030940790056	0.40942	2.440185	0.0445583706668865	0.41809	2.518083	0.991941940083341	0.32664	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.52	0.39415	0.144000	0.15956	-0.390000	0.09482	0.599000	0.40250	0.797000	0.29682	0.000000	0.08366	0.999000	0.91618	0.136:0.7906:0.0:0.0735	9.926	0.40661	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	2123.33	34	chr2	21015495	.	C	T	2123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=799;ExcessHet=0;FS=5.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.6;SOR=0.37	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,18:59:71:.:.:71,0,543:.	2	0	17	0
chr2	23895852	23895852	C	A	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon2:c.G335T:p.R112L,ATAD2B:NM_001354107:exon2:c.G335T:p.R112L,ATAD2B:NM_017552:exon2:c.G335T:p.R112L	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.200259960182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.227	0.25362	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.99964	0.48019	D	.	.	.	-3.47	0.94546	D	-2.24	0.56945	N	0.741	0.74098	0.604	0.91953	D	0.789	0.92850	D	9	0.5552719	0.64482	D	0.20026	0.86699	D	0.524	0.79825	0.312	0.28612	0.81083135892	0.80905	0.5130897125332361	0.51230	1.23477500827	0.81440	0.669710457325	0.62796	T	0.06447	0.32442	T	0.326032	0.84894	D	0.230546	0.84697	D	0.922131173265663	0.58213	D	0.910509	0.68253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.55173	B	.;.	.;.	4.232399	0.64109	24.7	0.998737746250554	0.95076	0.95483	0.64900	D	AEFDI	0.596082	0.59039	D	0.427572636125908	0.62944	4.518894	0.491010174226825	0.67392	5.07799	0.999994292382983	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.03	5.03	0.67015	4.146000	0.57840	7.606000	0.61733	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.750	0.91772	497	0.76227	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	33	chr2	23895852	.	C	A	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-2.112;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1165	18	0	1	0
chr2	24121202	24121202	T	G	exonic	PFN4	.	nonsynonymous SNV	PFN4:NM_199346:exon3:c.A216C:p.R72S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0306679081274	0.0005	.	0.0004	0	0.0007	0	0	0.0007	0	0	0.0003687	57	154602	rs142176262	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0086	0	0	0.0003	9.802e-05	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	8.878e-05	5.387e-05	0	0	0.0003	0.0075	0	0	0	0.0001	0.0010	0	0.021	0.49117	D	0.471	0.12211	T	0.011	0.15914	B	0.014	0.16862	B	0.091119	0.20342	N	0.513463	0.997809	0.22499	N	0.69	0.16971	N	-1.93	0.84842	D	-1.22	0.30964	N	0.435	0.47395	-0.8063	0.54772	T	0.327	0.69495	T	10	0.014494866	0.00305	T	0.030668	0.52928	D	0.224	0.52174	0.498	0.58835	0.703139816682	0.70056	0.5025346690612476	0.50175	0.069265870109	0.07753	0.284439861774	0.08119	T	0.304672	0.67696	T	-0.237372	0.15686	T	-0.250784	0.49740	T	0.0591080878091449	0.07028	T	0.694431	0.30396	T	0.1923194	0.40896	0.16400231	0.38016	0.1923194	0.40896	0.16400231	0.38015	-2.965	0.09809	T	.	.	0.178	0.38906	B	.	.	3.066543	0.41201	21.3	0.98923198075856966	0.48602	0.80602	0.40197	D	AEFDBCI	0.273560	0.38894	N	-0.251783153321923	0.31033	1.73609	-0.0340731521547473	0.38185	2.24626	0.778872906861245	0.23803	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.421255	0.06892	1	.	.	5.63	4.45	0.53365	1.244000	0.32381	1.795000	0.28833	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0893:0.0:0.9107	8.723	0.33613	301	0.87912	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1432.33	39	chr2	24121202	.	T	G	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=789;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.326;SOR=0.595	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1446,0,1923	18	0	1	0
chr2	24164259	24164259	A	G	exonic	FAM228B	.	nonsynonymous SNV	FAM228B:NM_001145710:exon9:c.A856G:p.S286G,FAM228B:NM_001291328:exon9:c.A445G:p.S149G	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0133421122566	.	0.000798722	0.0013	0.0005	0	0	0	0	0	0.0034	0.000207	32	154602	rs199663745	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0002	9.27e-07	0.0003	0.0042	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	9.232e-05	0.0033	0.0028	2.406e-05	0	0	0	0	0	0	0	0	0.0048	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.112	0.09914	-1.0682	0.09813	T	0.077	0.30767	T	8	0.0041534305	0.00082	T	0.013342	0.32667	T	.	.	.	.	0.0401082797425	0.02173	0.01328224536606756	0.01286	.	.	0.293175965548	0.09387	T	.	.	.	-0.493504	0.00622	T	-0.481805	0.24255	T	0.013443868979192	0.00244	T	0.452755	0.12846	T	0.047116153	0.08001	0.10876488	0.26204	0.047116153	0.08001	0.10876488	0.26203	-4.132	0.25760	T	.	.	0.080	0.33086	B	.;.;.;.	.;.;.;.	2.216027	0.28277	17.74	0.97527543768559033	0.34437	0.14607	0.18492	N	AEFBCI	0.048897	0.08393	N	-0.603967342456692	0.18824	0.9804182	-0.701856365926859	0.16914	0.8970152	0.738469229749131	0.23172	0.656854	0.48797	0	0.624146	0.53433	0	0.576033	0.28219	0	0.699908	0.69081	0	.	.	4.17	3.0	0.33773	0.738000	0.25826	0.267000	0.16613	-0.095000	0.16041	0.001000	0.13787	0.000000	0.08366	0.107000	0.18608	0.7879:0.2121:0.0:0.0	7.814	0.28410	305	0.87738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	34	chr2	24164259	.	A	G	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=789;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.016;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	18	0	1	0
chr2	24208254	24208254	C	T	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon36:c.G4541A:p.R1514H,ITSN2:NM_019595:exon36:c.G4580A:p.R1527H,ITSN2:NM_006277:exon37:c.G4661A:p.R1554H,ITSN2:NM_001348181:exon38:c.G4619A:p.R1540H	.	417	1095	10	0	0	10	0.00454545	.	.	.	1165615	ITSN2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0010	0.000599042	0.0020	9.615e-05	0.0008	0	0.0147	0.0018	0.0077	0.0008	0.0017982	278	154602	rs138517130	0.0019	0.0020	0.0020	0.0019	0.0156	0.0019	0.0019	0.0130	0.0120	0.0005	0.0010	0.0033	2.519e-05	0.0103	0.0156	0.0017	0.0022	0.0010	0.0025	0.0025	0.0017	0.0033	0.0024	0.0023	0.0022	0.0017	0.0015	0.0005	0	0.0024	0.0049	0.0002	0.0162	0	0.0018	0.0033	0.0015	0.05	0.39575	D	0.084	0.41405	T	0.002	0.09854	B	0.001	0.04355	B	0.005524	0.32720	U	0.000000	0.999997	0.08975	N	1.5	0.37844	L	0.97	0.42502	T	-3.29	0.65742	D	0.603	0.62103	-1.0051	0.28427	T	0.095	0.35765	T	10	0.009541094	0.00215	T	.	.	.	0.071	0.20720	.	.	0.753968970322	0.75174	0.3083661816113559	0.30749	0.186891718728	0.21002	0.737879574299	0.72661	T	0.252039	0.62237	T	-0.483926	0.00702	T	-0.473761	0.25112	T	0.0309126970982234	0.02132	T	0.914708	0.69569	D	0.07003572	0.15394	0.08262036	0.18871	0.066003405	0.14161	0.09696683	0.23060	-10.449	0.76554	D	.	.	0.142	0.33913	B	.;.;.	.;.;.	3.683456	0.52444	23.2	0.98070557864533081	0.38023	0.88120	0.47910	D	AEFDBI	0.385136	0.46599	N	-0.299485031402841	0.29169	1.615165	-0.240841141202732	0.30088	1.691124	0.495726757522484	0.20901	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.75	4.75	0.59954	4.532000	0.60321	5.891000	0.50761	0.577000	0.29297	0.982000	0.35529	1.000000	0.68203	0.171000	0.21011	0.0:0.9188:0.0:0.0812	12.591	0.55793	309	0.87553	.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.010870	0.017544	0.000000	0.017241	0.000000	0.000000	0.02632	489.33	36	chr2	24208254	.	C	T	489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=701;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=0.419;SOR=1.014	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr2	24209966	24209966	T	G	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon34:c.A4205C:p.Y1402S,ITSN2:NM_019595:exon34:c.A4244C:p.Y1415S,ITSN2:NM_006277:exon35:c.A4325C:p.Y1442S,ITSN2:NM_001348181:exon36:c.A4283C:p.Y1428S	.	.	.	.	.	.	.	.	.	.	.	3198817	ITSN2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.207	.	0.0002	0.0081869	0.0023	0.0005	8.637e-05	0.0311	0	0	0.0011	0.0001	0.0022315	345	154602	rs148365890	0.0011	0.0011	0.0011	0.0010	0.0365	0.0010	0.0010	0.0349	0.0343	0.0001	4.472e-05	0	0.0365	0	0	4.496e-06	0.0018	0.0003	0.0012	0.0012	0.0009	0.0015	0.0318	0.0011	0.0010	0.0279	0.0263	0.0002	0	0.0002	0	0.0318	0	0	4.41e-05	0.0019	0.0004	0.115	0.28520	T	0.238	0.24840	T	0.716	0.42206	P	0.174	0.35540	B	0.097973	0.20002	U	0.250456	0.991865	0.42537	D	2.44	0.70756	M	1.34	0.34841	T	-4.81	0.80767	D	0.561	0.60833	-1.1091	0.03148	T	0.025	0.10464	T	10	0.008633465	0.00196	T	.	.	.	0.207	0.49555	.	.	0.68311903528	0.68041	0.6324804500197794	0.63182	0.214580205157	0.23995	0.542705655098	0.44828	T	0.216709	0.57894	T	-0.392248	0.02602	T	-0.312529	0.43385	T	0.070752283693125	0.08756	T	0.962554	0.86152	D	0.47038516	0.65314	0.43796545	0.67198	0.39251018	0.60210	0.41800782	0.65837	-9.304	0.69632	D	.	.	0.342	0.56045	A	.;.;.	.;.;.	3.791486	0.54572	23.5	0.95430142097258441	0.26922	0.95585	0.65310	D	AEFDGBIJ	0.537319	0.55517	D	0.00477090299461903	0.42072	2.528119	0.0898321219183544	0.44035	2.693177	0.626699685109067	0.21932	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	2.896000	0.48355	3.491000	0.38715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.708	0.62131	309	0.87553	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1008.33	36	chr2	24209966	.	T	G	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.12;DP=712;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.009;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr2	24793176	24793176	T	C	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.A202G:p.T68A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0195370112495	.	.	1.695e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773928181	1.437e-05	1.437e-05	8.172e-06	2.064e-05	0.0002	9.24e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.977	0.58535	D	0.698	0.54098	P	0.000000	0.84330	D	0.050925	1	0.81001	D	3.17	0.88688	M	2.84	0.10674	T	-4.04	0.74427	D	0.62	0.63544	-1.0525	0.13709	T	0.072	0.29227	T	10	0.7657583	0.76690	D	0.019537	0.41929	T	0.242	0.54781	0.602	0.73346	0.437850553699	0.43404	0.6890190019068201	0.68841	0.74872460195	0.63655	0.614321887493	0.54926	T	0.659931	0.89782	D	-0.236055	0.15856	T	-0.317174	0.42883	T	0.965768158435822	0.67369	D	0.79722	0.44094	T	0.5484537	0.69869	0.6022746	0.76889	0.5484537	0.69870	0.6022746	0.76890	-8.184	0.62317	D	.	.	0.297	0.52744	B	.	.	3.935758	0.57556	23.9	0.99679628551774613	0.79174	0.81194	0.40650	D	ALL	0.566079	0.57221	D	0.675715941724478	0.78042	6.792412	0.630845871610962	0.77193	6.632107	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	4.92	0.64147	5.343000	0.65746	7.831000	0.70117	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:0.0746:0.0:0.9254	10.784	0.45595	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1093.33	33	chr2	24793176	.	T	C	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=732;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.688;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	18	0	1	0
chr2	24793322	24793322	C	T	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.G56A:p.G19E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0129531480803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.447e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.144	0.33109	T	0.454	0.36182	P	0.186	0.36104	B	0.772170	0.06604	N	1.115980	0.995659	0.23235	N	2.045	0.56016	M	1.8	0.25344	T	-1.09	0.28290	N	0.396	0.43706	-1.0261	0.21723	T	0.050	0.21300	T	10	0.12653497	0.24056	T	0.012953	0.31963	T	0.026	0.05648	0.38	0.39645	0.250579442822	0.24687	0.5182423654142342	0.51747	0.293945167638	0.31813	0.345383286476	0.17240	T	0.020164	0.15924	T	-0.179624	0.23791	T	-0.495794	0.22784	T	0.203163370490074	0.20589	T	0.659134	0.26825	T	0.08760055	0.20404	0.16472806	0.38145	0.08760055	0.20404	0.16472806	0.38144	-4.003	0.23849	T	.	.	0.086	0.10449	B	.	.	1.524990	0.19577	14.33	0.98455396902778303	0.41677	0.14501	0.18436	N	ALL	0.153166	0.27798	N	-0.336892626544541	0.27757	1.525451	-0.310894304090803	0.27745	1.541809	0.999999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	6.06	3.11	0.34883	0.716000	0.25508	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.5724:0.3011:0.1265	7.120	0.24619	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1899.33	33	chr2	24793322	.	C	T	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.116;DP=791;ExcessHet=0;FS=3.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.01;SOR=0.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	18	0	1	0
chr2	24799720	24799720	C	A	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon2:c.C74A:p.S25Y,CENPO:NM_001322101:exon3:c.C92A:p.S31Y,CENPO:NM_024322:exon3:c.C92A:p.S31Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	.	0.00239617	0.0007	0	0	0.0092	0	0	0.0011	0.0004	0.0006856	106	154602	rs142759452	0.0002	0.0002	0.0003	0.0002	0.0058	0.0002	0.0002	0.0052	0.0050	0	2.236e-05	0	0.0058	0	0.0002	4.496e-06	0.0010	0.0007	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0074	0.0066	0	0	0	0	0.0095	0	0	0	0	0.0015	0.192	0.20988	T	0.12	0.35970	T	0.845	0.46707	P	0.361	0.47904	B	0.005302	0.32910	N	0.220173	1	0.08975	N	2.135	0.59519	M	0.8	0.49068	T	-2.04	0.46842	N	0.357	0.39861	-0.9897	0.32677	T	0.080	0.31645	T	10	0.003691256	0.00068	T	.	.	.	0.078	0.22779	.	.	0.516659694907	0.51310	0.2960349776563589	0.29516	0.430764046418	0.43306	0.374795973301	0.21517	T	0.024534	0.18521	T	-0.44458	0.01215	T	-0.40199	0.33153	T	0.0574092738530819	0.06755	T	0.59684	0.22194	T	0.1045646	0.24721	0.10190353	0.24409	0.1045646	0.24720	0.10190353	0.24408	-2.274	0.08128	T	.	.	0.091	0.18497	B	.;.;.	.;.;.	0.749904	0.11194	7.831	0.83591910360255683	0.14810	0.17866	0.20021	N	AEFBI	0.085296	0.17290	N	-0.17334023292879	0.34248	1.952494	-0.292752844621714	0.28337	1.579224	0.999647850776758	0.41316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.54	4.54	0.55220	1.038000	0.29863	0.318000	0.17154	0.585000	0.30472	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.0:1.0:0.0:0.0	12.699	0.56389	364	0.84707	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr2	24799720	.	C	A	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.188;DP=875;ExcessHet=0;FS=1.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.94;SOR=0.83	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	24814395	24814395	A	G	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon3:c.A218G:p.N73S,CENPO:NM_001322101:exon4:c.A236G:p.N79S,CENPO:NM_024322:exon4:c.A236G:p.N79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00312022856363	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746934262	2.09e-06	3.421e-06	2.78e-06	1.397e-06	1.167e-05	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.839e-06	0	1.167e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.459	0.08762	T	0.631	0.07642	T	0.006	0.15535	B	0.003	0.12992	B	0.664612	0.06000	N	1.157430	1	0.08975	N	0.345	0.11182	N	0.95	0.43279	T	-0.6	0.17834	N	0.051	0.03069	-0.9884	0.33002	T	0.065	0.26983	T	10	0.048477292	0.04304	T	0.00312	0.06786	T	0.045	0.12272	.	.	0.20549828249	0.20151	0.1841524009536937	0.18334	0.105715252096	0.11951	0.25339075923	0.04133	T	0.009076	0.08288	T	-0.502597	0.00553	T	-0.778194	0.02508	T	0.0388677160279908	0.03486	T	0.677432	0.28627	T	0.029098568	0.02349	0.023702787	0.00383	0.029098568	0.02349	0.023702787	0.00383	-1.565	0.01902	T	.	.	0.065	0.02145	B	.;.;.	.;.;.	-0.634412	0.01480	0.092	0.81649744335412655	0.13791	0.01517	0.05008	N	AEFBI	0.036804	0.04962	N	-1.31456034440071	0.03508	0.156813	-1.31658583359338	0.04215	0.1983707	0.995940448191042	0.34425	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.55	-3.42	0.04521	-0.208000	0.09375	-2.452000	0.03737	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.134000	0.19723	0.3784:0.0:0.6216:0.0	12.329	0.54355	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1129.33	34	chr2	24814395	.	A	G	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=724;ExcessHet=0;FS=3.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.393;SOR=0.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr2	24826067	24826067	C	G	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001377131:exon15:c.G1832C:p.S611T,ADCY3:NM_001320613:exon16:c.G2558C:p.S853T,ADCY3:NM_001377129:exon16:c.G2417C:p.S806T,ADCY3:NM_001377132:exon16:c.G2555C:p.S852T,ADCY3:NM_004036:exon16:c.G2555C:p.S852T,ADCY3:NM_001377128:exon17:c.G2621C:p.S874T	.	402	1116	4	0	0	4	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0180973822754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.53172	T	0.044	0.49942	D	0.032	0.20242	B	0.035	0.22741	B	0.000000	0.84330	D	0.078353	0.999136	0.46149	D	-0.505	0.02602	N	-0.58	0.71425	T	-1.61	0.40468	N	0.691	0.69649	-0.6950	0.60675	T	0.279	0.65129	T	10	0.42118812	0.56874	T	0.018097	0.40048	T	0.222	0.51872	0.519	0.62066	0.703799379039	0.70122	0.8099014591595323	0.80945	0.885137563501	0.69946	0.676082968712	0.63707	T	0.41301	0.76700	T	0.0271718	0.55347	T	-0.198746	0.54765	T	0.902372598648071	0.55532	D	0.853215	0.64209	D	0.34144464	0.56394	0.27805787	0.53763	0.34144464	0.56394	0.27805787	0.53762	-3.015	0.10343	T	.	.	0.333	0.55438	B	.;.;.;.	.;.;.;.	3.635749	0.51521	23.1	0.98689358546982497	0.44738	0.95864	0.66482	D	AEFDGBHCI	0.867229	0.78692	D	0.0245579346529761	0.42973	2.599535	0.195179002304281	0.49581	3.159682	1.0	0.98316	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.635259	0.50027	0	.	.	5.3	5.3	0.74745	5.733000	0.68216	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	17.789	0.88456	356	0.85138	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1120.33	44	chr2	24826067	.	C	G	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=855;ExcessHet=0;FS=5.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.056;SOR=1.261	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr2	25131447	25131447	C	T	exonic	EFR3B	.	nonsynonymous SNV	EFR3B:NM_001319099:exon9:c.C824T:p.A275V,EFR3B:NM_014971:exon9:c.C929T:p.A310V	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0534701348615	.	.	0.0005	0	0	0	0	0.0011	0	0.0001	0.0001035	16	154602	rs745862229	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	3.165e-05	5.603e-05	0	0	0.0021	0.0002	0.0004	0.0003	0.0003	0.0005	0.0005	0.0003	0.0007	0.0005	0.0004	0.0004	0.0004	0.0004	0	0	0	0	0	0.0039	0	0.0005	0	0	0.16	0.51853	T	0.016	0.60972	D	0.998	0.73220	D	0.882	0.62632	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	0.5	0.55608	T	-1.46	0.43524	N	0.639	0.66529	-0.5349	0.67356	T	0.277	0.64906	T	10	0.041398555	0.02792	T	0.05347	0.65483	D	0.168	0.42943	.	.	0.154104182512	0.14974	0.7773617165737677	0.77686	.	.	0.821387648582	0.85240	D	0.037434	0.24475	T	-0.14885	0.28491	T	-0.0851465	0.64524	T	0.284198790788651	0.24348	T	0.963804	0.90669	D	0.15353045	0.34795	0.16015314	0.37316	0.15353045	0.34795	0.16015314	0.37315	-10.491	0.83023	D	.	.	0.289	0.59057	B	.;.;.;.;.	.;.;.;.;.	4.627682	0.73545	26.0	0.9989664211792515	0.96971	0.97126	0.72841	D	AEFDBI	0.899969	0.84496	D	0.497265013748089	0.66928	5.014332	0.438541885699087	0.63986	4.643598	0.999999999995223	0.74766	0.635344	0.42169	0	0.627178	0.54094	0	0.654045	0.52621	0	0.620976	0.48614	0	.	.	4.48	4.48	0.53973	7.730000	0.83827	7.577000	0.60860	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:1.0:0.0:0.0	15.734	0.77592	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	635.33	39	chr2	25131447	.	C	T	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=704;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.6;SOR=0.751	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1213	18	0	1	0
chr2	25377548	25377548	C	G	exonic	DTNB	.	nonsynonymous SNV	DTNB:NM_001351394:exon18:c.G1615C:p.E539Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.906e-05	5.905e-05	3.854e-05	8.05e-05	0.0019	3.074e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	60.08	3	chr2	25377548	.	C	G	60.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.38;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=-0.0235;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.674;SOR=2.303	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	15	0	1	3
chr2	25743113	25743113	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G2444A:p.R815Q,ASXL2:NM_001369346:exon11:c.G3050A:p.R1017Q,ASXL2:NM_018263:exon12:c.G3224A:p.R1075Q	Shashi-Pena syndrome, Autosomal dominant	432	1072	18	0	0	18	0.00832562	.	.	.	697503	not_provided|ASXL2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.091	.	0.0092	0.00459265	0.0080	0.0018	0.0041	0	0.0174	0.0112	0.0100	0.0016	0.0076842	1188	154602	rs62130126	0.0090	0.0090	0.0091	0.0089	0.0199	0.0089	0.0088	0.0170	0.0159	0.0017	0.0052	0.0108	2.519e-05	0.0189	0.0199	0.0098	0.0080	0.0016	0.0078	0.0078	0.0080	0.0077	0.0108	0.0075	0.0073	0.0101	0.0099	0.0023	0	0.0069	0.0098	0	0.0179	0.0238	0.0108	0.0099	0.0017	0.972	0.02043	T	0.753	0.06406	T	0.006	0.13644	B	0.002	0.06944	B	0.968051	0.07760	N	1.012670	0.999988	0.54805	D	-0.05	0.04954	N	2.1	0.19990	T	1.06	0.01297	N	0.077	0.06720	-1.0533	0.13493	T	0.018	0.07612	T	10	0.0018387139	0.00025	T	.	.	.	0.091	0.26358	.	.	0.082315109003	0.07666	.	.	0.145901866807	0.16476	0.198306113482	0.00409	T	0.042332	0.26149	T	-0.687064	0.00044	T	-0.747372	0.03589	T	0.00338038428782324	0.00036	T	0.864814	0.56255	D	0.038849235	0.05253	0.048413184	0.07187	0.041290246	0.06053	0.048413184	0.07186	0.627	0.00188	T	0.028397443381650293	0.00057	0.061	0.01271	B	.;.	.;.	0.421366	0.07922	4.626	0.39494268257848325	0.02728	0.09773	0.15453	N	AEFBCI	0.041773	0.06394	N	-0.885517272670445	0.11186	0.5384858	-0.821209947374644	0.13982	0.7282311	0.995626004743273	0.34230	0.722319	0.85440	0	0.71359	0.82159	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-2.54	0.05941	0.271000	0.18390	-1.015000	0.06600	0.599000	0.40250	0.051000	0.21449	0.000000	0.08366	0.985000	0.61073	0.0:0.1829:0.0:0.8171	13.163	0.58975	704	0.57414	.;.	.	.	.	.	rs62130126	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017120	0.020202	0.008152	0.032164	0.000000	0.034483	0.021341	0.011364	0.02632	2319.33	38	chr2	25743113	.	C	T	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=831;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.47;SOR=0.603	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1355	18	0	1	0
chr2	26197705	26197705	T	C	exonic	HADHA	.	nonsynonymous SNV	HADHA:NM_000182:exon14:c.A1465G:p.K489E	Fatty liver, acute, of pregnancy, Autosomal recessive;HELLP syndrome, maternal, of pregnancy, Autosomal recessive;LCHAD deficiency, Autosomal recessive;Trifunctional protein deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	486890	Mitochondrial_trifunctional_protein_deficiency|Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency|Mitochondrial_trifunctional_protein_deficiency_1|not_provided	MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746|MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5|MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	0.0320499147111	0.0002	0.00119808	0.0002	0.0004	0	0.0017	0	0	0	0.0001	0.0002264	35	154602	rs145422395	6.763e-05	7.466e-05	5.138e-05	8.369e-05	0.0006	5.596e-05	5.179e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.31e-05	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0015	0.0012	0.0003	0	0	0	0.0025	0	0	0	0.0005	0.0006	0.139	0.25768	T	0.336	0.18232	T	0.122	0.26746	B	0.292	0.40739	B	0.000000	0.84330	D	0.040063	0.999988	0.54805	D	1.805	0.47535	L	-1.05	0.76690	T	-1.93	0.44852	N	0.57	0.59308	-0.5199	0.67917	T	0.395	0.74771	T	10	0.022107005	0.00544	T	0.03205	0.53977	D	0.371	0.69016	.	.	0.713007841789	0.71049	0.6128944860860636	0.61221	0.7545477971	0.63944	0.58507835865	0.50801	T	0.51979	0.83185	D	-0.230399	0.16596	T	-0.144262	0.59748	T	0.051258303280453	0.05720	T	0.936606	0.76191	D	0.8044772	0.84193	0.66988146	0.80632	0.8044772	0.84195	0.66988146	0.80633	-12.815	0.88586	D	0.5065340055728946	0.58090	0.132	0.28550	B	.;.;.	.;.;.	3.956616	0.58003	23.9	0.99808836469536388	0.89264	0.94368	0.60943	D	AEFDGBHCI	0.608759	0.59822	D	-0.0203284285484779	0.40937	2.439752	0.106878763046652	0.44898	2.762872	0.999998610064728	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.68	4.5	0.54382	4.059000	0.57184	5.135000	0.47677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.2823:0.7177	11.505	0.49713	683	0.59664	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	568.33	35	chr2	26197705	.	T	C	568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.463;DP=684;ExcessHet=0;FS=3.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.008;SOR=0.296	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	18	0	1	0
chr2	26318051	26318051	C	T	exonic	ADGRF3	.	stopgain	ADGRF3:NM_001145168:exon2:c.G251A:p.W84X	.	408	1104	9	1	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0012	0	0.0024	0	0	0.0001	0.0042	0.0031	0.000194	30	154602	rs372835378	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.803e-05	0	0	2.029e-05	0.0009	2.41e-05	0.0002	0.0026	9.191e-05	9.186e-05	7.708e-05	0.0001	0.0023	5.523e-05	4.361e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243396	0.14919	T	-0.127635	0.61169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.335669	0.07097	3.667	0.96522272928220476	0.30119	0.00408	0.02030	N	AEFDGBI	0.031604	0.03414	N	-0.274643380820906	0.30130	1.677226	-0.712724760128822	0.16644	0.8814624	0.988105338177474	0.31419	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	0.927	-0.244	0.12388	-0.649000	0.05483	0.158000	0.15372	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.5745:0.4255:0.0	4.449	0.11031	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002953	0.000000	0.000000	0.000000	0.000000	0.043478	0.000000	0.008621	0.05263	1823.83	37	chr2	26318051	.	C	T	1823.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=737;ExcessHet=0.119;FS=1.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.533;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1264	17	0	2	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1775.33	146	chr2	26454684	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.578;DP=781;ExcessHet=0;FS=6.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.603;SOR=0.513	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1266	18	0	1	0
chr2	26461824	26461824	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon25:c.C3335T:p.A1112V,OTOF:NM_004802:exon26:c.C3104T:p.A1035V,OTOF:NM_194323:exon26:c.C3104T:p.A1035V,OTOF:NM_001287489:exon43:c.C5405T:p.A1802V,OTOF:NM_194248:exon43:c.C5405T:p.A1802V	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	884501	Nonsyndromic_genetic_hearing_loss|Autosomal_recessive_nonsyndromic_hearing_loss_9|not_specified|not_provided	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.729	0.104344452097	0.0002	.	0.0001	0	8.637e-05	0.0007	0.0002	0.0001	0.0011	6.056e-05	0.0001229	19	154602	rs144562626	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0009	0.0008	2.987e-05	0.0001	0	0.0012	3.744e-05	0.0014	8.723e-05	0.0002	8.115e-05	0.0001	0.0001	0.0001	9.403e-05	0.0002	7.088e-05	5.745e-05	7.91e-05	5.995e-05	4.814e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0.0002	0.004	0.65419	D	0.004	0.74150	D	0.984	0.90584	D	0.821	0.71741	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-1.28	0.81815	T	-3.91	0.73042	D	0.905	0.90590	0.674	0.92851	D	0.745	0.91309	D	10	0.7725315	0.77197	D	0.104344	0.77888	D	0.729	0.90501	.	.	0.923135545112	0.92235	0.7160080674024935	0.71543	0.595449407768	0.54820	0.782173931599	0.79256	T	0.553775	0.84938	D	0.0289134	0.55579	T	0.166789	0.81217	D	0.546860992908478	0.34360	D	0.938306	0.78638	D	0.457981	0.64545	0.3295216	0.58830	0.457981	0.64546	0.3295216	0.58829	-9.5	0.70971	D	0.833605527151756	0.90384	0.821	0.83483	P	.;.;.;.;.;.	.;.;.;.;.;.	5.250827	0.88155	29.5	0.99920930668147334	0.98721	0.95367	0.64444	D	AEFBHCI	0.954083	0.97091	D	0.740958976841666	0.82315	7.73237	0.654977515743586	0.78981	6.98711	0.999999999999979	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	9.943000	0.98936	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	17.478	0.87560	416	0.81733	.;.;C2 domain|Ferlin, sixth C2 domain;C2 domain|Ferlin, sixth C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2270.33	43	chr2	26461824	.	G	A	2270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.046;SOR=0.662	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1276	18	0	1	0
chr2	26463516	26463516	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon23:c.C3089T:p.T1030M,OTOF:NM_004802:exon24:c.C2858T:p.T953M,OTOF:NM_194323:exon24:c.C2858T:p.T953M,OTOF:NM_001287489:exon41:c.C5159T:p.T1720M,OTOF:NM_194248:exon41:c.C5159T:p.T1720M	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	228942	Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_9|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.553	0.191023354009	.	0.000998403	0.0009	0	0	0	0	0.0001	0.0022	0.0047	0.0004851	75	154602	rs375712326	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0	9.074e-05	3.853e-05	2.529e-05	1.893e-05	0.0017	9.19e-05	0.0004	0.0040	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	2.405e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.001	0.83351	D	0.959	0.65571	D	0.707	0.54387	P	0.000000	0.84330	D	0.049718	0.999861	0.50061	D	0.69	0.16971	N	-2.09	0.86077	D	-1.97	0.45587	N	0.51	0.54147	0.378	0.88772	D	0.627	0.86891	D	10	0.013700038	0.00290	T	0.191023	0.86159	D	0.553	0.81544	.	.	0.979867883203	0.97964	0.6465091956220339	0.64585	0.434749923973	0.43605	0.582451164722	0.50430	T	0.232625	0.59923	T	-0.259339	0.12978	T	-0.14772	0.59444	T	0.0971321698461335	0.12038	T	0.949505	0.86724	D	0.3141298	0.54141	0.37541085	0.62685	0.26669618	0.49740	0.41974437	0.65959	-6.309	0.48793	T	0.1227720352436202	0.11807	0.070	0.04477	B	.;.;.;.;.;.	.;.;.;.;.;.	5.319129	0.89281	29.9	0.99918175233795203	0.98586	0.98220	0.80657	D	AEFBI	0.938769	0.93843	D	0.570993097284124	0.71370	5.64043	0.615567534571736	0.76071	6.423784	0.999999999999959	0.74766	0.600919	0.35232	0	0.588015	0.36545	0	0.640751	0.46059	0	0.562822	0.20929	0	.	.	5.11	5.11	0.69188	9.942000	0.98926	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.114	0.89476	416	0.81733	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.001359	0.002924	0.000000	0.025862	0.000000	0.007576	0.02632	964.33	39	chr2	26463516	.	G	A	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=718;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.29;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	18	0	1	0
chr2	26464893	26464893	G	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon21:c.C2866A:p.P956T,OTOF:NM_004802:exon22:c.C2635A:p.P879T,OTOF:NM_194323:exon22:c.C2635A:p.P879T,OTOF:NM_001287489:exon39:c.C4936A:p.P1646T,OTOF:NM_194248:exon39:c.C4936A:p.P1646T	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1376	132	12	2	158	0.0536451	.	.	.	3078394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	0.0318956791272	.	.	0.0001	0	0.0003	0	0	6.082e-05	0	0.0006	0.0001035	16	154602	rs17005371	9.387e-05	9.508e-05	6.312e-05	0.0001	0.0010	8.097e-05	7.585e-05	0.0009	0.0008	0	4.569e-05	0	0	0	0.0005	3.347e-05	0.0001	0.0010	5.258e-05	5.249e-05	2.572e-05	8.066e-05	0.0012	2.558e-05	1.831e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.942e-05	0	0.0012	0.132	0.26965	T	0.193	0.34716	T	0.004	0.21002	B	0.012	0.25116	B	0.000000	0.84330	D	0.000000	1.54143e-06	0.58761	P	1.935	0.51832	L	0.45	0.56446	T	-1.6	0.45587	N	0.427	0.49146	-0.9401	0.42600	T	0.124	0.42862	T	9	0.21998471	0.38682	T	0.031896	0.53866	D	0.085	0.24743	0.304	0.27325	0.812953928322	0.81120	0.5587085226425965	0.55797	0.185846097654	0.20895	0.61885291338	0.55566	T	0.184434	0.53709	T	-0.305713	0.08131	T	-0.287325	0.46049	T	0.0743180207036648	0.09245	T	0.930507	0.74278	D	0.17838651	0.38854	0.18434414	0.41481	0.20353404	0.42434	0.18744835	0.41977	-8.532	0.64641	D	0.18295323847856027	0.23662	0.086	0.11461	B	.;.;.;.;.;.	.;.;.;.;.;.	3.728312	0.53317	23.3	0.97535584947788367	0.34485	0.97149	0.72977	D	AEFBI	0.862291	0.78055	D	-0.148847199597606	0.35283	2.024684	0.0186403754598639	0.40579	2.424115	0.999913889226275	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.91	4.91	0.63897	6.623000	0.74104	11.734000	0.95055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	17.712	0.88233	417	0.81662	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1441.33	37	chr2	26464893	.	G	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.046;DP=773;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.96;SOR=0.781	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	26575998	26575998	G	A	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001105519:exon2:c.G171A:p.M57I,FAM166C:NM_001322426:exon3:c.G133A:p.G45R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00612818255689	.	0.00159744	0.0014	0.0001	0	0	0	0	0	0.0099	0.0011837	183	154602	rs531808422	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	2.987e-05	2.236e-05	0	5.038e-05	0	0.0003	5.396e-06	0.0006	0.0117	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0004	0.0112	0.0103	7.224e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0139	0.076	0.34269	T	0.026	0.55759	D	0.072	0.23997	B	0.025	0.20508	B	0.002701	0.36102	N	0.193091	0.532181	0.31984	D	1.39	0.34934	L	1.14	0.38397	T	-0.61	0.18042	N	0.269	0.30461	-1.0338	0.19236	T	0.059	0.24797	T	10	0.005289644	0.00116	T	0.006128	0.16052	T	0.061	0.17616	0.474	0.55020	0.0666544352282	0.05500	0.41319157136674733	0.41235	0.304405072356	0.32745	.	.	.	0.004903	0.04322	T	-0.456245	0.01037	T	-0.418746	0.31219	T	0.0377240691320544	0.03283	T	0.548745	0.18852	T	0.25687182	0.48729	0.19419622	0.43030	0.25687182	0.48729	0.19419622	0.43029	-2.896	0.09103	T	.	.	0.44	0.61705	A	.	.	2.763066	0.36248	20.2	0.83274738694392092	0.14636	0.85910	0.45099	D	AEFGBI	0.498110	0.53235	N	-0.285561952880713	0.29705	1.649709	-0.143800862243734	0.33648	1.926935	0.999998020571832	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.59	4.59	0.56297	4.150000	0.57871	2.384000	0.32503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0:0.0:1.0:0.0	14.880	0.70166	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3668.33	35	chr2	26575998	.	G	A	3668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=923;ExcessHet=0;FS=3.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.114;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1397	18	0	1	0
chr2	26577581	26577581	T	C	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001322426:exon4:c.T376C:p.C126R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00349420076376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.982319	0.81001	D	.	.	.	.	.	.	-12.0	0.99623	D	0.157	0.16308	-0.6366	0.63291	T	0.217	0.57889	T	5	0.23637053	0.40716	T	0.003494	0.07908	T	0.340	0.66202	0.169	0.07419	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.312519	0.07529	T	-0.686689	0.06582	T	0.207034249767561	0.20797	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.52161	B	.	.	0.063962	0.04739	1.368	0.47122245112343819	0.03828	0.19329	0.20618	N	AEFDGBCI	0.017194	0.00435	N	-0.515612725649794	0.21574	1.145992	-0.590675273171236	0.19734	1.060196	0.99993487161957	0.46732	0.533608	0.22052	0	0.61073	0.52368	0	0.616487	0.41570	0	0.638833	0.57524	0	.	.	5.27	-2.17	0.06663	-0.512000	0.06397	-2.149000	0.04140	-0.843000	0.02775	0.824000	0.30046	0.000000	0.08366	0.004000	0.06068	0.0:0.2343:0.0:0.7657	10.645	0.44810	409	0.82198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3017.33	271	chr2	26577581	.	T	C	3017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.768;DP=961;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.367;SOR=0.548	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1365	18	0	1	0
chr2	26583844	26583844	C	T	exonic	CIB4	.	nonsynonymous SNV	CIB4:NM_001029881:exon5:c.G383A:p.R128Q	.	.	.	.	.	.	.	.	.	.	.	3293700	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0710740305799	.	.	4.123e-05	0	0	0.0002	0	4.501e-05	0	0	3.23e-05	5	154602	rs149619875	2.874e-05	2.941e-05	2.86e-05	2.889e-05	8.968e-05	2.152e-05	1.908e-05	2.376e-05	2.023e-05	8.968e-05	0	0	7.557e-05	0	0	3.148e-05	1.657e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	7.239e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.34	0.12714	T	0.504	0.11041	T	1.0	0.90584	D	0.981	0.75168	D	0.000209	0.47681	D	0.000000	1	0.08975	N	1.585	0.39878	L	-0.55	0.71068	T	-1.82	0.42763	N	0.622	0.63713	-0.5737	0.65867	T	0.405	0.75543	T	10	0.69299513	0.71970	D	0.071074	0.71172	D	0.391	0.70684	0.422	0.46529	0.737742724758	0.73540	0.35434072508297254	0.35348	0.0454713089873	0.04930	0.343039393425	0.16893	T	0.181226	0.53282	T	-0.157549	0.27139	T	-0.171936	0.57265	T	0.305554330348969	0.25232	T	0.777622	0.41060	T	0.0797772	0.18245	0.055823345	0.09864	0.0797772	0.18245	0.055823345	0.09864	-5.756	0.44189	T	.	.	0.265	0.49988	B	.	.	3.319457	0.45644	22.2	0.99752288120174082	0.84382	0.36155	0.25468	N	AEFDBI	0.160565	0.28652	N	0.131819980126888	0.47952	3.013844	0.00452662879358041	0.39925	2.374677	0.913837261593012	0.26435	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	4.65	0.57626	2.480000	0.44865	4.837000	0.45250	0.599000	0.40250	0.873000	0.30851	0.960000	0.29291	0.014000	0.10232	0.0:0.9111:0.0:0.0889	10.704	0.45141	401	0.82673	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	33	chr2	26583844	.	C	T	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.32;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1145	18	0	1	0
chr2	26942028	26942028	C	T	exonic	DPYSL5	.	nonsynonymous SNV	DPYSL5:NM_001253723:exon10:c.C1168T:p.R390C,DPYSL5:NM_001253724:exon10:c.C1168T:p.R390C,DPYSL5:NM_020134:exon10:c.C1168T:p.R390C	.	.	.	.	.	.	.	.	.	.	.	3185516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.698	0.163147241925	.	.	3.295e-05	0	0	0.0001	0	4.495e-05	0	0	3.23e-05	5	154602	rs750517458	1.437e-05	1.505e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0.0002	1.439e-05	0	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.02	0.86243	M	-2.81	0.91134	D	-6.69	0.92433	D	0.444	0.48504	0.815	0.94595	D	0.844	0.94798	D	10	0.67590225	0.70989	D	0.163147	0.84256	D	0.698	0.89099	0.718	0.85319	0.847042817354	0.84557	0.882742450835961	0.88242	2.11663288113	0.94974	0.803730070591	0.82532	D	0.828593	0.95883	D	0.0836007	0.62459	D	0.0514384	0.73679	D	0.986694931983948	0.77349	D	0.994001	0.98017	D	0.8640146	0.88393	0.57948583	0.75628	0.8640146	0.88395	0.57948583	0.75629	-8.991	0.67639	D	.	.	0.179	0.39630	B	.;.;.	.;.;.	4.995505	0.82855	27.9	0.99931012810310682	0.99387	0.59657	0.30976	D	AEFBI	0.664098	0.63338	D	0.459493497170471	0.64744	4.735918	0.346850391065462	0.58317	4.001656	0.970402660070568	0.29205	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.75	0.59954	0.529000	0.22727	3.343000	0.37723	0.599000	0.40250	0.063000	0.21864	1.000000	0.68203	0.996000	0.76049	0.1511:0.7708:0.0:0.0781	8.586	0.32819	577	0.69927	Amidohydrolase-related;Amidohydrolase-related;Amidohydrolase-related	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1553.33	38	chr2	26942028	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=848;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.033;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	27082968	27082968	T	G	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon4:c.T1397G:p.L466R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0145527248737	.	.	2.18e-05	0	0	0	0	3.736e-05	0	0	1.29e-05	2	154602	rs754865997	6.289e-06	6.157e-06	5.539e-06	7.053e-06	2.54e-05	2.96e-06	2.14e-06	3.14e-06	2.27e-06	0	0	0	2.54e-05	0	0	7.297e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.11882	T	0.537	0.09863	T	0.004	0.12183	B	0.001	0.04355	B	0.892762	0.08676	N	0.943966	0.999995	0.08975	N	0.695	0.17993	N	-0.01	0.62762	T	0.05	0.06369	N	0.483	0.51761	-1.0213	0.23292	T	0.103	0.37869	T	10	0.08984539	0.15598	T	0.014553	0.34740	T	0.099	0.28413	0.444	0.50139	0.364730456448	0.36084	0.40837468384803355	0.40753	0.340679203976	0.36009	0.487867534161	0.37144	T	0.084504	0.37293	T	-0.239004	0.15475	T	-0.408632	0.32382	T	0.0241633094847202	0.01165	T	0.689031	0.29821	T	0.17845337	0.38865	0.13487443	0.32308	0.17845337	0.38865	0.13487443	0.32307	-1.373	0.01523	T	.	.	0.06	0.00934	B	.	.	1.299507	0.17012	12.90	0.85116739373915051	0.15695	0.04187	0.09689	N	AEFDBCI	0.043097	0.06770	N	-0.788638348662073	0.13605	0.6714619	-0.676086219107818	0.17558	0.9342134	0.99993137766601	0.46732	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.43	1.5	0.22029	-1.403000	0.02603	1.908000	0.29627	0.576000	0.29215	0.000000	0.06391	0.999000	0.35428	0.904000	0.43992	0.3365:0.0914:0.0:0.5722	3.737	0.08040	406	0.82375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	659.33	34	chr2	27082968	.	T	G	659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=676;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.548;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	18	0	1	0
chr2	27084522	27084522	G	A	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon5:c.G2548A:p.G850R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.556831501739	.	.	3.399e-05	0	0	0	0	6.238e-05	0	0	2.59e-05	4	154602	rs758516548	1.305e-05	1.368e-05	1.504e-05	1.104e-05	5.994e-05	8.35e-06	6.73e-06	1.584e-05	9.3e-06	5.994e-05	0	3.837e-05	2.52e-05	0	0	8.129e-06	3.322e-05	4.642e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0002	0.005	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.72	0.99514	H	-6.11	0.99530	D	-2.49	0.54217	N	0.723	0.72477	1.003	0.97233	D	0.988	0.99659	D	10	0.9879998	0.99196	D	0.556832	0.95938	D	0.904	0.97361	0.968	0.99691	0.986087772393	0.98593	0.9293310447342966	0.92911	0.80887371826	0.66644	0.845298051834	0.88903	D	0.908375	0.98255	D	0.404431	0.90167	D	0.524689	0.95110	D	0.982776761054993	0.74695	D	0.992251	0.97542	D	0.40750676	0.61249	0.50917894	0.71635	0.40750676	0.61249	0.50917894	0.71636	-12.114	0.85402	D	.	.	0.874	0.81099	P	.	.	5.291427	0.88845	29.8	0.99908880182796145	0.97875	0.97437	0.74744	D	AEFDBCI	0.934922	0.92902	D	0.705188290335679	0.79974	7.192253	0.558773253387871	0.72011	5.742925	0.999999999999996	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.82	4.82	0.61641	6.846000	0.75195	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:1.0:0.0	15.425	0.74770	406	0.82375	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	805.33	47	chr2	27084522	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.538;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.662;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1178	18	0	1	0
chr2	27099241	27099241	G	C	exonic	KHK	.	nonsynonymous SNV	KHK:NM_000221:exon6:c.G610C:p.A204P,KHK:NM_006488:exon6:c.G610C:p.A204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0982871703578	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs777377724	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.102	0.30515	T	0.025	0.56192	D	0.005	0.77913	B	0.132	0.86255	B	0.000000	0.84330	D	0.049673	0.999999	0.81001	D	1.55	0.39271	L	-1.05	0.76690	T	-3.52	0.68412	D	0.411	0.45142	-0.0413	0.81390	T	0.532	0.82665	D	10	0.8953911	0.88892	D	0.098287	0.76916	D	0.472	0.76554	0.741	0.87317	0.857948139865	0.85657	0.821439396445305	0.82100	0.502531134374	0.48607	0.529172062874	0.42917	T	0.63095	0.88561	D	0.140255	0.68349	D	-0.0208238	0.68974	D	0.934850096702576	0.60262	D	0.905309	0.66640	D	0.9554465	0.96818	0.8355556	0.90546	0.9554465	0.96819	0.8355556	0.90547	-5.23	0.39245	T	0.3631463089499464	0.45939	0.202	0.42678	B	.;.;.	.;.;.	2.574814	0.33375	19.32	0.99732106918795194	0.82833	0.91189	0.53035	D	AEFBCI	0.947012	0.95711	D	0.0786368644909906	0.45468	2.802757	0.089539761365856	0.44021	2.691981	0.99999966023627	0.74766	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.699908	0.69081	0	.	.	5.47	4.56	0.55644	4.265000	0.58663	5.722000	0.49476	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:0.8302:0.1698	13.399	0.60316	362	0.84826	.;Carbohydrate kinase PfkB;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1669.33	34	chr2	27099241	.	G	C	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=773;ExcessHet=0;FS=2.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.607;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	18	0	1	0
chr2	27131497	27131497	C	T	exonic	PREB	.	nonsynonymous SNV	PREB:NM_001330485:exon8:c.G997A:p.V333M,PREB:NM_001330484:exon9:c.G955A:p.V319M,PREB:NM_013388:exon9:c.G1171A:p.V391M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.103040636873	.	.	2.592e-05	0	0	0	0	5.226e-05	0	0	3.84e-05	1	26028	rs774576478	1.393e-06	2.052e-06	1.382e-06	1.404e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.198e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.014	0.63109	D	0.986	0.77913	D	0.809	0.70309	P	0.000319	0.45977	D	0.143209	0.989612	0.40988	D	1.955	0.52871	M	-1.33	0.79944	T	-0.93	0.24898	N	0.367	0.42345	-0.0281	0.81671	T	0.539	0.82980	D	10	0.37354645	0.53659	T	0.103041	0.77685	D	0.388	0.70440	0.327	0.31034	0.735643650146	0.73328	0.4668275334647843	0.46601	0.5939459802	0.54724	0.467028290033	0.34272	T	0.268919	0.64107	T	0.0388007	0.56889	T	-0.182042	0.56333	T	0.552644661091374	0.34577	D	0.893211	0.63049	D	0.06777441	0.14708	0.08844648	0.20624	0.06777441	0.14707	0.08844648	0.20623	-6.54	0.50594	T	.	.	0.161	0.41449	B	.;.	.;.	4.091362	0.60938	24.3	0.98043961511498812	0.37812	0.86960	0.46361	D	AEFBCI	0.140284	0.26214	N	0.399088930359526	0.61374	4.337517	0.376188822406572	0.60101	4.19398	0.999212772994756	0.38775	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	4.17	0.48303	1.713000	0.37570	1.679000	0.28001	0.599000	0.40250	0.987000	0.36337	0.921000	0.28324	0.993000	0.69303	0.0:0.9053:0.0:0.0947	9.549	0.38464	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	800.33	34	chr2	27131497	.	C	T	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.187;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1385	18	0	1	0
chr2	27137101	27137101	G	T	exonic	PRR30	.	stopgain	PRR30:NM_178553:exon3:c.C1229A:p.S410X	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	8.681e-05	0	0	0	0	0.0027	0.0003234	50	154602	rs558366083	0.0002	0.0002	7.351e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	0	0.0001	0.0025	7.221e-05	7.217e-05	2.57e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.220181	0.16157	N	0.366909	0.992975	0.23793	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120688	0.66441	D	0.39628	0.91990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.453542	0.91083	32	0.9882326600314022	0.46819	0.07937	0.13923	N	AEFBI	0.047655	0.08047	N	0.12335446963655	0.47553	2.979482	-0.16830377074565	0.32710	1.86368	0.3283771307675	0.19459	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.85	3.06	0.34374	0.163000	0.16338	0.044000	0.13909	0.586000	0.30580	0.001000	0.13787	0.000000	0.08366	0.302000	0.24547	0.2001:0.0:0.7999:0.0	7.241	0.25272	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	34	chr2	27137101	.	G	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.166;DP=725;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-1.758;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	18	0	1	0
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014675	0.010989	0.011142	0.029762	0.000000	0.046296	0.009677	0.007812	0.02632	992.33	42	chr2	27212400	.	C	T	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.129;DP=779;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.327;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1194	18	0	1	0
chr2	27343391	27343391	G	A	exonic	GTF3C2	.	nonsynonymous SNV	GTF3C2:NM_001035521:exon2:c.C164T:p.T55I,GTF3C2:NM_001318909:exon2:c.C197T:p.T66I,GTF3C2:NM_001521:exon3:c.C164T:p.T55I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0215923622191	0.0002	.	8.247e-05	0	0	0	0	3.001e-05	0	0.0005	6.47e-05	10	154602	rs138676594	3.353e-05	3.352e-05	1.77e-05	4.951e-05	0.0010	2.567e-05	2.312e-05	0.0005	0.0003	0	0	0	0	0	0.0010	5.398e-06	6.624e-05	0.0004	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.047	0.43393	D	0.074	0.42976	T	0.612	0.39723	P	0.203	0.37000	B	0.199897	0.16627	N	0.547418	1	0.08975	N	0.55	0.14455	N	-0.7	0.72785	T	-0.57	0.74742	N	0.229	0.25745	-0.9516	0.40695	T	0.176	0.52100	T	10	0.048664063	0.04349	T	0.021592	0.44379	T	0.090	0.26093	.	.	0.248133497653	0.24425	0.13214520795680457	0.13139	0.185292135175	0.20833	0.36537078023	0.20165	T	0.135379	0.46715	T	-0.275369	0.11166	T	-0.328777	0.41604	T	0.0537506633323621	0.06147	T	0.627137	0.24909	T	0.037054434	0.04676	0.050882526	0.08074	0.037054434	0.04675	0.050882526	0.08074	-4.396	0.29503	T	.	.	0.083	0.22573	B	.;.;.;.;.	.;.;.;.;.	2.393763	0.30746	18.53	0.99592568439940443	0.73690	0.12051	0.17029	N	AEFDBI	0.052993	0.09509	N	-0.283450650190941	0.29787	1.655021	-0.299998849847875	0.28099	1.564067	0.0738548288280066	0.15648	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	1.834000	0.38811	3.772000	0.39758	0.676000	0.76740	0.117000	0.23121	0.998000	0.33993	0.985000	0.61073	0.1043:0.2001:0.6956:0.0	5.770	0.17513	293	0.88320	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	34	chr2	27343391	.	G	A	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.435;SOR=0.661	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr2	27367149	27367149	A	G	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001318965:exon9:c.T1001C:p.V334A,EIF2B4:NM_001318968:exon9:c.T353C:p.V118A,EIF2B4:NM_172195:exon9:c.T998C:p.V333A,EIF2B4:NM_001034116:exon10:c.T938C:p.V313A,EIF2B4:NM_001318966:exon10:c.T893C:p.V298A,EIF2B4:NM_001318967:exon10:c.T845C:p.V282A,EIF2B4:NM_001318969:exon10:c.T320C:p.V107A,EIF2B4:NM_015636:exon10:c.T935C:p.V312A	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	289220	Vanishing_white_matter_disease|not_provided|EIF2B4-related_disorder	MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.370	.	.	0.00199681	0.0008	0	0	0	0	0	0	0.0056	0.0006598	102	154602	rs560532019	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	2.987e-05	4.472e-05	0	0	0	0	2.698e-06	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	0	0	0.0075	0.431	0.11586	T	0.517	0.10572	T	0.265	0.38873	B	0.27	0.39872	B	0.000710	0.42254	D	0.269301	0.980759	0.39700	D	1.905	0.50856	L	-3.04	0.92357	D	-0.69	0.19720	N	0.511	0.57433	0.011	0.82481	D	0.606	0.86017	D	10	0.011464447	0.00250	T	.	.	.	0.370	0.68930	0.497	0.58678	0.741731055263	0.73941	0.48377320450291894	0.48297	0.633817887609	0.57261	0.544209122658	0.45041	T	0.01534	0.72112	T	-0.243965	0.14848	T	-0.121435	0.61684	T	0.0624087041803861	0.07544	T	0.90211	0.67171	D	0.13021007	0.30389	0.09359876	0.22115	0.14524856	0.33302	0.105081506	0.25253	-7.0	0.54861	T	.	.	0.137	0.30076	B	.;.;.;.;.	.;.;.;.;.	2.534848	0.32776	19.14	0.97463784547781829	0.34095	0.51345	0.28874	D	AEFDBCI	0.357052	0.44822	N	-0.220124214724505	0.32309	1.820692	-0.12209111479716	0.34501	1.985261	0.999978952649258	0.50053	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	4.76	0.60189	1.985000	0.40289	6.808000	0.56642	0.756000	0.94297	0.006000	0.17386	1.000000	0.68203	0.993000	0.69303	0.8619:0.0:0.0:0.1381	11.135	0.47594	321	0.86949	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2882.33	42	chr2	27367149	.	A	G	2882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=1020;ExcessHet=0;FS=4.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.664;SOR=0.983	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr2	27370287	27370287	C	G	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001034116:exon1:c.G28C:p.E10Q,EIF2B4:NM_015636:exon1:c.G28C:p.E10Q	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.394593408713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs542570644	2.436e-05	2.394e-05	2.548e-05	2.321e-05	0.0007	1.753e-05	1.547e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0007	1.757e-05	0.0001	1.256e-05	5.907e-05	5.905e-05	1.284e-05	0.0001	0.0004	3.074e-05	2.208e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0.0004	0.015	0.52492	D	0.387	0.17531	T	0.029	0.22331	B	0.057	0.32300	B	0.983335	0.08079	N	0.992704	1	0.81001	D	1.39	0.34934	L	-3.46	0.94508	D	-0.34	0.12661	N	0.207	0.22998	-0.0607	0.80978	T	0.704	0.89827	D	10	0.10210335	0.18693	T	0.394593	0.93264	D	0.211	0.50185	0.179	0.08626	0.594013328804	0.59079	.	.	.	.	.	.	.	0.006719	0.25553	T	-0.18603	0.22842	T	-0.240567	0.50743	T	0.0780466168391562	0.09734	T	0.770723	0.40088	T	0.2425328	0.47182	0.15180118	0.35744	0.2425328	0.47182	0.15180118	0.35743	-4.156	0.26170	T	.	.	0.224	0.45495	B	.;.;.	.;.;.	1.651048	0.21061	15.03	0.98552601546525298	0.42871	0.22346	0.21715	N	ALL	0.250938	0.37090	N	-0.514591586284088	0.21607	1.147964	-0.422531005526238	0.24337	1.332165	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.18	4.24	0.49486	-0.130000	0.10477	1.517000	0.27065	0.524000	0.24156	0.000000	0.06391	0.888000	0.27792	0.644000	0.32530	0.0:0.8844:0.0:0.1156	8.916	0.34740	321	0.86949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	35	chr2	27370287	.	C	G	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=718;ExcessHet=0;FS=3.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.353;SOR=1.27	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	27445394	27445394	C	T	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon46:c.G4970A:p.R1657Q	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3263821	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0152116491581	.	.	9.271e-06	0	0	0	0	1.664e-05	0	0	1.29e-05	2	154602	rs766353582	2.944e-05	3.01e-05	3.133e-05	2.753e-05	0.0002	2.218e-05	1.971e-05	2.371e-05	2.104e-05	5.976e-05	0	0	0	0	0.0002	3.239e-05	6.628e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.485	0.08115	T	0.627	0.07267	T	0.33	0.33247	B	0.043	0.24256	B	0.000005	0.62929	D	0.063715	0.999993	0.81001	D	0.51	0.13489	N	1.05	0.39990	T	-0.17	0.09627	N	0.462	0.49874	-1.0696	0.09501	T	0.059	0.24612	T	10	0.1937328	0.35154	T	0.015212	0.35810	T	0.047	0.12962	0.243	0.17677	0.286465849087	0.28247	0.31684449800213965	0.31597	0.210666846013	0.23558	0.576460421085	0.49586	T	0.082726	0.36893	T	-0.156033	0.27372	T	-0.398261	0.33586	T	0.232868889359833	0.22087	T	0.966403	0.87711	D	0.13004255	0.30354	0.10111874	0.24197	0.13004255	0.30354	0.10111874	0.24196	-3.326	0.14074	T	0.11923076855938967	0.11085	0.084	0.09675	B	.	.	3.429605	0.47660	22.5	0.90790806040158412	0.20040	0.95157	0.63647	D	AEFDBI	0.581663	0.58159	D	-0.0669167994272967	0.38850	2.281819	0.131588917882724	0.46174	2.867719	0.99999999214598	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	4.681000	0.61353	4.859000	0.45451	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.467	0.75142	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	39	chr2	27445394	.	C	T	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=758;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.051;SOR=0.605	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1400	18	0	1	0
chr2	27456514	27456514	T	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon30:c.A3368G:p.N1123S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	419	1095	7	1	0	9	0.00409277	.	.	.	1041317	Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71|Inborn_genetic_diseases|IFT172-related_disorder|Bardet-Biedl_syndrome_20|not_provided	MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00841121746276	7.7e-05	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs146615936	8.557e-05	8.756e-05	6.675e-05	0.0001	0.0010	7.317e-05	6.821e-05	0.0008	0.0008	0	2.241e-05	0	0	0	0.0004	2.789e-05	4.973e-05	0.0010	3.939e-05	3.937e-05	5.139e-05	2.686e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000001	0.84330	D	0.124571	0.999778	0.48980	D	0.18	0.09070	N	1.03	0.40469	T	-0.2	0.10136	N	0.106	0.09066	-1.0556	0.12882	T	0.051	0.21611	T	10	0.025084227	0.00714	T	0.008411	0.22257	T	0.113	0.31778	.	.	0.24896430686	0.24499	0.14352358026625084	0.14275	0.140332092331	0.15827	0.351770758629	0.18183	T	0.066354	0.32924	T	-0.587835	0.00173	T	-0.693865	0.06167	T	0.0192572438343846	0.00631	T	0.855114	0.54241	D	0.026875498	0.01801	0.046596542	0.06530	0.026875498	0.01800	0.046596542	0.06530	-7.698	0.58994	D	0.14072430283414925	0.15771	0.064	0.01738	B	.	.	1.257873	0.16555	12.61	0.54390277377086715	0.05128	0.91750	0.54184	D	AEFDBI	0.360668	0.45055	N	-0.474813447043266	0.22907	1.226495	-0.252695479960757	0.29678	1.664706	0.999783127555041	0.43007	0.706548	0.73137	0	0.670034	0.63936	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.550000	0.45472	4.194000	0.42423	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0763:0.0:0.9237	10.448	0.43694	61	0.97388	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	542.33	34	chr2	27456514	.	T	C	542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.057;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1260	18	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.02632	1696.33	34	chr2	27470935	.	G	C	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.507;SOR=0.73	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1454	18	0	1	0
chr2	27523381	27523381	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon19:c.G1820A:p.G607E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00350001630314	.	0.000199681	1.654e-05	0	8.666e-05	0	0	1.505e-05	0	0	1.94e-05	3	154602	rs202176106	6.85e-06	7.524e-06	4.09e-06	9.637e-06	6.708e-05	3.46e-06	2.53e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	4.496e-06	3.312e-05	0	4.598e-05	4.593e-05	2.57e-05	6.717e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	1.47e-05	0	0	0.222	0.18823	T	0.356	0.17166	T	.	.	.	.	.	.	0.040069	0.24099	U	0.200721	1	0.08975	N	.	.	.	2.27	0.17431	T	-0.13	0.08971	N	0.689	0.69474	-1.0314	0.20002	T	0.028	0.11882	T	10	0.24639407	0.41903	T	0.004	0.07939	T	0.176	0.44373	0.203	0.11797	0.416202232284	0.41236	0.1450451969482396	0.14427	0.0712296837041	0.07977	0.490724474192	0.37539	T	0.248378	0.61817	T	-0.165839	0.25866	T	-0.279021	0.46905	T	0.105542346835136	0.12955	T	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	1.254062	0.16513	12.59	0.77941519814847826	0.12088	0.06896	0.12921	N	AEFI	0.489977	0.52766	N	-0.595155779310374	0.19091	0.9964621	-0.587853631416946	0.19809	1.064507	0.995794005742018	0.34330	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.09	4.09	0.47038	1.289000	0.32913	2.723000	0.34327	0.596000	0.33519	0.083000	0.22414	0.992000	0.31684	0.065000	0.16320	0.0:0.0:1.0:0.0	11.994	0.52483	73	0.96914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	941.33	33	chr2	27523381	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=693;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.373;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	27580895	27580897	AAG	-	exonic	C2orf16	.	nonframeshift deletion	C2orf16:NM_032266:exon1:c.4323_4325del:p.R1443del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	.	1.657e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs752641581	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0003	1.265e-05	1.084e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.619e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2247.29	36	chr2	27580894	.	CAAG	C	2247.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1279;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.974;SOR=0.693	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	18	0	1	0
chr2	27581983	27581983	G	A	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.G5411A:p.R1804K	.	438	1052	31	1	0	33	0.0154422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0039106321571	0.0014	0.00119808	0.0023	0.0002	0.0025	0	0	0.0029	0.0044	0.0028	0.0020375	315	154602	rs190786540	0.0017	0.0017	0.0016	0.0019	0.0288	0.0017	0.0017	0.0252	0.0238	0.0006	0.0029	0.0217	0	0	0.0288	0.0010	0.0043	0.0031	0.0019	0.0019	0.0020	0.0019	0.0050	0.0017	0.0017	0.0041	0.0037	0.0005	0	0.0050	0.0211	0	0	0.0278	0.0015	0.0033	0.0019	0.136	0.26085	T	0.136	0.34009	T	0.79	0.44599	P	0.363	0.43280	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.44	0.05375	T	0.07	0.06138	N	0.114	0.10198	-0.9607	0.39050	T	0.007	0.02558	T	9	0.0032745302	0.00056	T	0.003911	0.09211	T	0.016	0.02506	.	.	0.167679373172	0.16340	0.03202349404580406	0.03150	0.0864687688196	0.09759	.	.	.	0.006067	0.05507	T	-0.648721	0.00074	T	-0.707984	0.05401	T	0.00583508350822592	0.00064	T	0.408659	0.10706	T	0.048825834	0.08572	0.04649033	0.06491	0.048825834	0.08572	0.04649033	0.06491	-5.335	0.40288	T	.	.	0.114	0.22969	B	.;.	.;.	0.519976	0.08890	5.667	0.84813933446720435	0.15513	0.08703	0.14594	N	AEFBCI	.	.	.	-0.781104883977863	0.13802	0.682645	-0.924420358024815	0.11519	0.5872883	0.999593790969724	0.40745	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.664235	0.64389	0	.	.	3.71	-0.286	0.12226	-0.375000	0.07532	-3.958000	0.02427	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4043:0.0:0.4212:0.1746	3.476	0.07150	65	0.97253	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.020202	0.020380	0.049708	0.000000	0.017241	0.009146	0.011364	0.02632	4550.33	36	chr2	27581983	.	G	A	4550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=1100;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-0.027;QD=12.27;ReadPosRankSum=-0.597;SOR=0.773	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	18	0	1	0
chr2	27607891	27607891	T	C	exonic	ZNF512	.	nonsynonymous SNV	ZNF512:NM_001271286:exon9:c.T896C:p.M299T,ZNF512:NM_001271287:exon9:c.T752C:p.M251T,ZNF512:NM_001271288:exon9:c.T752C:p.M251T,ZNF512:NM_001271289:exon9:c.T668C:p.M223T,ZNF512:NM_032434:exon10:c.T983C:p.M328T,ZNF512:NM_001271318:exon11:c.T752C:p.M251T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00209600798692	.	.	3.3e-05	0	0	0	0	3.001e-05	0	0.0001	2.59e-05	4	154602	rs751234506	3.01e-05	3.01e-05	2.178e-05	3.85e-05	0.0003	2.282e-05	2.032e-05	0.0002	0.0002	0	0	0	0	0	0	1.888e-05	0	0.0003	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.557	0.07720	T	0.593	0.08302	T	0.004	0.12183	B	0.002	0.06944	B	0.215728	0.16258	N	0.635243	0.999994	0.08975	N	0.345	0.11182	N	.	.	.	-1.35	0.33598	N	0.247	0.30461	-1.0511	0.14092	T	0.060	0.25127	T	9	0.046151757	0.03772	T	0.002096	0.03855	T	0.040	0.10527	0.331	0.31681	0.043077524339	0.03247	0.420367382004888	0.41952	0.628620718257	0.56926	0.482487559319	0.36400	T	0.02234	0.30781	T	-0.239267	0.15442	T	-0.378813	0.35862	T	0.0614905965571916	0.07402	T	0.70293	0.31283	T	0.13125406	0.30600	0.07280249	0.15747	0.13125406	0.30600	0.07280249	0.15747	-2.345	0.06805	T	.	.	0.107	0.22609	B	.;.;.;.;.	.;.;.;.;.	2.446846	0.31499	18.76	0.85840382265463366	0.16145	0.67268	0.33371	D	AEFDBI	0.102541	0.20566	N	-0.326232747042837	0.28154	1.550616	-0.124067992234198	0.34421	1.979865	0.257576151415609	0.18752	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	2.117000	0.41563	7.851000	0.70967	0.661000	0.55757	0.815000	0.29920	1.000000	0.68203	0.981000	0.58702	0.0:0.0836:0.0:0.9164	8.799	0.34057	46	0.97728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	35	chr2	27607891	.	T	C	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=794;ExcessHet=0;FS=1.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.653;SOR=0.522	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1785,0,2386	18	0	1	0
chr2	27894638	27894638	G	A	exonic	BABAM2	.	nonsynonymous SNV	BABAM2:NM_001261840:exon2:c.G82A:p.G28R,BABAM2:NM_001329112:exon2:c.G82A:p.G28R,BABAM2:NM_001329114:exon2:c.G82A:p.G28R,BABAM2:NM_004899:exon2:c.G82A:p.G28R,BABAM2:NM_199191:exon2:c.G82A:p.G28R,BABAM2:NM_199192:exon2:c.G82A:p.G28R,BABAM2:NM_001329113:exon3:c.G82A:p.G28R,BABAM2:NM_001329115:exon3:c.G82A:p.G28R,BABAM2:NM_199193:exon3:c.G82A:p.G28R,BABAM2:NM_199194:exon3:c.G82A:p.G28R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.00930046502246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.013	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.115713	0.999996	0.58761	D	.	.	.	.	.	.	-3.86	0.74742	D	0.854	0.86297	-0.2252	0.77013	T	0.420	0.76543	T	9	0.9078649	0.90151	D	0.009	0.24413	T	0.466	0.76156	0.795	0.91584	0.614155820699	0.61104	0.947614613083645	0.94744	1.28414411616	0.82604	0.848523855209	0.89391	D	0.155631	0.77375	T	0.425853	0.91321	D	0.373932	0.91214	D	0.991959989070892	0.82329	D	0.959904	0.84889	D	0.61785024	0.73648	0.52643585	0.72639	0.61785024	0.73649	0.52643585	0.72640	-3.552	0.17168	T	.	.	0.998	0.97573	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.923592	0.81112	27.5	0.99944537549126489	0.99868	0.95746	0.65978	D	AEFBI	0.804241	0.72916	D	0.826588712620956	0.87736	9.323059	0.833491085174415	0.92014	11.19044	0.999999950235938	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.195000	0.77321	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.07	0.93113	129	0.94817	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1730.33	142	chr2	27894638	.	G	A	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=768;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.672;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	18	0	1	0
chr2	28529315	28529342	AGTCCTTTCAGACATCATCAGATATTTC	-	exonic	PLB1	.	frameshift deletion	PLB1:NM_001170585:exon7:c.326_351del:p.V109Efs*22,PLB1:NM_153021:exon7:c.326_351del:p.V109Efs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1513.29	36	chr2	28529314	.	TAGTCCTTTCAGACATCATCAGATATTTC	T	1513.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=735;ExcessHet=0;FS=4.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=1.75;SOR=1.281	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	0	1	0
chr2	28539119	28539119	C	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon11:c.C672A:p.N224K,PLB1:NM_153021:exon11:c.C639A:p.N213K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0268913967088	.	0.00159744	0.0008	0	8.645e-05	0	0	0	0	0.0056	0.0006792	105	154602	rs201950380	0.0004	0.0004	0.0002	0.0005	0.0061	0.0004	0.0003	0.0057	0.0055	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0061	0.0002	0.0002	0.0001	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.972	0.92359	D	0.000044	0.53742	D	0.123571	0.857681	0.28403	N	3.31	0.90591	M	1.32	0.35219	T	-5.83	0.88361	D	0.808	0.80375	-0.3204	0.74410	T	0.389	0.74335	T	10	0.012284219	0.00265	T	0.026891	0.49757	D	0.289	0.60808	0.695	0.83219	0.28798054836	0.28402	0.6930204789328924	0.69242	0.157749596145	0.17814	0.611724495888	0.54559	T	0.10685	0.41854	T	-0.379839	0.03123	T	-0.315916	0.43021	T	0.289925636235644	0.24586	T	0.764923	0.42944	T	0.57153183	0.71145	0.4449027	0.67656	0.57153183	0.71146	0.4449027	0.67656	-11.117	0.80296	D	.	.	0.975	0.91282	P	.;.;.	.;.;.	3.694145	0.52654	23.3	0.99745633978114878	0.83852	0.98530	0.83766	D	AEFDBHCI	0.311580	0.41727	N	0.205292764326764	0.51454	3.326612	0.17865965581313	0.48679	3.080605	0.998614306679977	0.37309	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	2.43	0.28797	1.256000	0.32524	1.214000	0.24928	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.6856:0.0:0.3144	7.735	0.27975	612	0.66786	.;Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2132.33	33	chr2	28539119	.	C	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.187;SOR=0.718	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr2	28541807	28541807	A	T	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon13:c.A908T:p.H303L,PLB1:NM_153021:exon13:c.A875T:p.H292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00239950984416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.04200	T	0.733	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.054507	0.02062	N	2.027840	1	0.08975	N	-1.04	0.01097	N	2.84	0.10771	T	-0.11	0.08653	N	0.101	0.14763	-1.0120	0.26291	T	0.013	0.05225	T	10	0.036420614	0.01939	T	0.002	0.04701	T	0.023	0.04649	0.333	0.32005	0.0611884634855	0.05136	0.2167134197877041	0.21587	0.047464531655	0.05180	0.222294360399	0.01446	T	0.003514	0.02920	T	-0.289759	0.09660	T	-0.653995	0.08676	T	0.0445283730611542	0.04517	T	0.174083	0.01670	T	0.043291528	0.06722	0.03468069	0.02580	0.043291528	0.06721	0.03468069	0.02579	-2.207	0.04103	T	.	.	0.061	0.02578	B	.;.	.;.	-0.758298	0.01192	0.058	0.32392032311040364	0.01874	0.00212	0.01206	N	AEFBI	0.023300	0.01279	N	-1.57790235206728	0.01378	0.06008522	-1.66842990656176	0.01284	0.05788784	0.999446332357001	0.39736	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-6.31	0.01826	-1.015000	0.03748	-0.499000	0.08813	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2062:0.1112:0.1037:0.579	3.575	0.07483	608	0.67185	Phospholipase B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1994.33	34	chr2	28541807	.	A	T	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=802;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.427;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1364	18	0	1	0
chr2	28582405	28582405	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon24:c.G1600A:p.V534I,PLB1:NM_153021:exon25:c.G1633A:p.V545I	.	.	.	.	.	.	.	.	0.0070	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0208291492221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	1.368e-06	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.41915	T	0.081	0.54159	T	0.019	0.32132	B	0.097	0.37792	B	0.000214	0.47681	N	0.136762	0.999869	0.54805	D	2.435	0.70606	M	2.64	0.14783	T	-0.42	0.17417	N	0.383	0.42443	-0.8600	0.51263	T	0.209	0.56866	T	9	0.4659297	0.66418	T	0.020829	0.43499	T	0.096	0.27654	0.794	0.91511	0.0806252709748	0.07271	0.2504072439166662	0.24954	0.102474208625	0.11596	0.40248966217	0.25415	T	0.027495	0.20123	T	-0.173861	0.24653	T	-0.487516	0.23650	T	0.82102632522583	0.47849	D	0.770923	0.51702	T	0.044298448	0.07057	0.06140557	0.11853	0.044298448	0.07056	0.06140557	0.11852	-7.786	0.59602	D	.	.	0.113	0.27583	B	.;.;.	.;.;.	3.210602	0.43697	21.8	0.99042684855061491	0.51051	0.93390	0.58089	D	AEFDGBI	0.631749	0.61261	D	0.294558490233508	0.55872	3.75136	0.254928659507621	0.52931	3.464695	0.999999956113513	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	3.67	0.41236	5.507000	0.66720	7.272000	0.57993	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0806:0.0:0.7661:0.1533	8.380	0.31629	665	0.61472	GDSL lipase/esterase|Phospholipase B;.;GDSL lipase/esterase|Phospholipase B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1032.33	37	chr2	28582405	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.977;DP=751;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.346;SOR=0.809	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	28598015	28598015	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon33:c.G2299A:p.D767N,PLB1:NM_153021:exon34:c.G2332A:p.D778N	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00963632963104	.	0.000199681	0.0003	9.617e-05	0	0	0	3.002e-05	0	0.0019	0.0002329	36	154602	rs552024753	0.0002	0.0002	9.943e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.237e-05	0	0	0	0.0014	3.239e-05	0.0002	0.0021	0.0001	0.0001	8.996e-05	0.0001	0.0021	7.087e-05	5.744e-05	0.0011	0.0009	0	0	6.533e-05	0	0	0	0	8.821e-05	0	0.0021	0.094	0.32296	T	0.003	0.76473	D	1.0	0.90584	D	0.997	0.88582	D	0.000002	0.62929	D	0.000000	0.995241	0.42605	D	2.515	0.73286	M	2.48	0.14657	T	-2.68	0.57275	D	0.568	0.59393	-1.1474	0.01105	T	0.102	0.37618	T	10	0.053490937	0.05550	T	0.009636	0.25199	T	0.195	0.47612	0.44	0.49484	0.364926071151	0.36103	0.6418088248259142	0.64115	0.20079379822	0.22476	0.433969497681	0.29752	T	0.046907	0.27566	T	-0.534477	0.00361	T	-0.54778	0.17539	T	0.191810347500441	0.19951	T	0.815518	0.47040	T	0.3001473	0.52918	0.24967673	0.50543	0.3001473	0.52918	0.24967673	0.50542	-8.936	0.67833	D	.	.	0.190	0.41031	B	.;.	.;.	4.482085	0.69940	25.4	0.99920786309927934	0.98721	0.90781	0.52248	D	AEFDBI	0.412492	0.48254	N	0.712972482723081	0.80482	7.304084	0.704815970856109	0.82744	7.84363	0.999999999997549	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.03	6.03	0.97798	4.063000	0.57214	9.846000	0.81956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.0:1.0:0.0	17.476	0.87554	720	0.55521	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1600.33	36	chr2	28598015	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.45;DP=740;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-2.39;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	18	0	1	0
chr2	28926510	28926510	A	G	exonic	WDR43	.	nonsynonymous SNV	WDR43:NM_015131:exon9:c.A1129G:p.I377V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0102188777204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265536186	2.761e-06	4.104e-06	1.371e-06	4.171e-06	1.195e-05	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.715e-06	0	1.195e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000131	0.49741	N	0.180395	0.980808	0.25085	N	-0.405	0.02972	N	-0.77	0.73523	T	0.3	0.04091	N	0.115	0.10340	-1.0059	0.28186	T	0.126	0.43091	T	10	0.022720307	0.00575	T	0.010219	0.26500	T	0.102	0.29158	0.402	0.43245	0.0675242888579	0.06100	0.20931166778712393	0.20847	0.128415859071	0.14478	0.335602968931	0.15779	T	0.010181	0.09213	T	-0.216802	0.18432	T	-0.549197	0.17403	T	0.0351679129923966	0.02837	T	0.590841	0.21745	T	0.017138137	0.00249	0.030117895	0.01429	0.017138137	0.00249	0.030117895	0.01428	-2.873	0.08876	T	.	.	0.063	0.01428	B	.	.	0.759568	0.11292	7.917	0.86404604364178494	0.16513	0.22452	0.21751	N	AEFBCI	0.063278	0.12220	N	-0.783497338554279	0.13739	0.6790747	-0.602554311441873	0.19427	1.042249	0.851816598148266	0.25059	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	1.94	0.25058	0.045000	0.13898	1.789000	0.28782	-0.095000	0.16041	0.047000	0.21291	0.999000	0.35428	0.997000	0.79791	0.727:0.0:0.273:0.0	7.985	0.29366	578	0.69858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	417.33	28	chr2	28926510	.	A	G	417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=649;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.081;SOR=0.874	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1004	18	0	1	0
chr2	29017265	29017265	T	C	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321538:exon9:c.T1156C:p.S386P,TOGARAM2:NM_199280:exon9:c.T1156C:p.S386P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00938498	0.0026	0.0307	0.0012	0	0	0	0.0011	0	0.0023997	371	154602	rs201148338	0.0010	0.0010	0.0012	0.0008	0.0358	0.0009	0.0009	0.0342	0.0335	0.0358	0.0017	0	0	0	0.0009	2.339e-05	0.0023	3.484e-05	0.0098	0.0098	0.0102	0.0094	0.0334	0.0094	0.0092	0.0320	0.0314	0.0334	0	0.0048	0	0	0	0	8.822e-05	0.0109	0	0.26	0.16574	T	0.282	0.21545	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	0.35	0.03761	N	0.038	0.01203	-0.9555	0.40006	T	0.014	0.05561	T	9	0.0032925904	0.00057	T	.	.	.	0.008	0.00669	.	.	0.0401082797425	0.02173	0.3203487305158109	0.31947	0.0670786012736	0.07489	0.294274538755	0.09550	T	0.006728	0.06159	T	-0.778689	0.00011	T	-0.866242	0.00779	T	0.00287747374797927	0.00030	T	0.214779	0.02659	T	0.04315	0.06672	0.07657329	0.16973	0.04315	0.06672	0.07657329	0.16973	-3.327	0.14087	T	.	.	0.062	0.01252	B	.	.	-0.429037	0.02106	0.198	0.92959677842238586	0.22534	0.02140	0.06305	N	AEFDBI	0.097137	0.19598	N	-1.3280665000454	0.03358	0.1498553	-1.37236277541218	0.03549	0.1657872	0.151537063039798	0.17448	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.84	-2.12	0.06766	-0.917000	0.04134	-1.033000	0.06541	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1068:0.2149:0.118:0.5603	2.659	0.04716	443	0.79878	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1527.33	41	chr2	29017265	.	T	C	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.43;DP=793;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.184;SOR=0.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	18	0	1	0
chr2	29035573	29035573	-	TCCGG	exonic	TOGARAM2	.	frameshift insertion	TOGARAM2:NM_001321539:exon13:c.1762_1763insTCCGG:p.R591Gfs*43,TOGARAM2:NM_001321538:exon16:c.2170_2171insTCCGG:p.R727Gfs*43,TOGARAM2:NM_199280:exon17:c.2335_2336insTCCGG:p.R782Gfs*43	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	.	0.0038	0.0002	0.0023	0	0.0151	0.0054	0	0	0.0001537	4	26028	rs747462412	0.0030	0.0030	0.0031	0.0029	0.0034	0.0029	0.0029	0.0033	0.0032	0.0004	0.0010	7.869e-05	0	0.0070	0.0016	0.0034	0.0026	0.0002	0.0023	0.0024	0.0019	0.0028	0.0031	0.0021	0.0021	0.0028	0.0027	0.0005	0	0.0016	0	0	0.0092	0	0.0031	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000506	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1632.29	36	chr2	29035573	.	T	TTCCGG	1632.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=735;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-0.792;SOR=0.913	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1134	18	0	1	0
chr2	29036639	29036639	G	C	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321539:exon14:c.G1944C:p.E648D,TOGARAM2:NM_001321538:exon17:c.G2352C:p.E784D,TOGARAM2:NM_199280:exon18:c.G2517C:p.E839D	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00872645496943	0.0002	0.000199681	8.24e-05	0.0002	8.651e-05	0	0	1.499e-05	0	0.0004	7.12e-05	11	154602	rs142594984	4.31e-05	4.309e-05	2.178e-05	6.464e-05	0.0006	3.443e-05	3.129e-05	0.0004	0.0004	0.0002	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	0.0006	6.567e-05	6.562e-05	8.994e-05	4.029e-05	0.0002	3.514e-05	2.615e-05	9.541e-05	6.945e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.556	0.06461	T	0.413	0.14412	T	0.005	0.12996	B	0.003	0.08700	B	0.702988	0.10077	N	0.872283	1	0.08975	N	.	.	.	2.88	0.10291	T	1.23	0.01037	N	0.157	0.16308	-0.9178	0.45851	T	0.013	0.05033	T	10	0.012591124	0.00270	T	0.008726	0.23050	T	0.015	0.02232	0.377	0.39156	0.0666544352282	0.05500	0.07752851409739421	0.07688	0.052293012637	0.05754	0.298822343349	0.10225	T	0.007316	0.06733	T	-0.591224	0.00165	T	-0.759069	0.03145	T	0.00682790755683411	0.00077	T	0.356464	0.08103	T	0.036813255	0.04600	0.03533998	0.02767	0.036813255	0.04600	0.03533998	0.02766	-4.81	0.34708	T	.	.	0.068	0.02927	B	.	.	-1.033746	0.00724	0.022	0.28320225262019255	0.01448	0.03689	0.08962	N	AEFDBI	0.068744	0.13576	N	-1.55833827935306	0.01486	0.06488962	-1.61840359410119	0.01547	0.07011073	0.999868769226738	0.44398	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	6.04	-7.15	0.01369	-1.349000	0.02734	-2.422000	0.03774	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.1725:0.468:0.2166:0.1429	5.176	0.14460	444	0.79803	TOG domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1877.33	33	chr2	29036639	.	G	C	1877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.929;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	29045401	29045401	C	T	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321539:exon15:c.C2140T:p.R714C,TOGARAM2:NM_001321538:exon18:c.C2548T:p.R850C,TOGARAM2:NM_199280:exon19:c.C2713T:p.R905C	.	397	1124	1	0	0	1	0.000444642	.	.	.	3346828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.0115804607796	0.0007	.	0.0002	0.0016	0.0002	0	0	9.026e-05	0	0	0.0002199	34	154602	rs149465089	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0001	0.0016	0.0015	0.0020	0.0001	0	0	1.896e-05	0.0002	0.0001	0.0004	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0016	0	0.0004	0	0	0	0.0034	0.0003	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.000118	0.50451	D	0.088123	0.999953	0.52396	D	.	.	.	2.47	0.14783	T	-6.17	0.90254	D	0.408	0.44857	-1.1085	0.03201	T	0.104	0.38218	T	10	0.045410752	0.03608	T	0.01158	0.29347	T	0.262	0.57482	.	.	0.473458370588	0.46973	0.4836911291375176	0.48289	0.087678245065	0.09892	0.508767843246	0.40050	T	0.047506	0.27744	T	-0.190343	0.22207	T	-0.0529747	0.66819	D	0.147805064472178	0.16927	T	0.827217	0.49094	T	0.4598702	0.64662	0.33133328	0.58994	0.4598702	0.64663	0.33133328	0.58993	-10.019	0.74026	D	.	.	0.215	0.44384	B	.	.	3.958256	0.58038	23.9	0.9991461049642657	0.98309	0.44032	0.27229	N	AEFBI	0.356943	0.44814	N	0.294634706103239	0.55878	3.751768	0.194732669072601	0.49557	3.157521	0.999979991310318	0.50053	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	1.940000	0.39851	3.275000	0.37188	0.599000	0.40250	0.271000	0.25055	0.998000	0.33993	0.059000	0.15899	0.0:1.0:0.0:0.0	18.805	0.92000	444	0.79803	TOG domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr2	29045401	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.696;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	18	0	1	0
chr2	29064997	29064997	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon2:c.G3739A:p.G1247S	.	0	1484	37	1	0	39	0.0129697	.	.	.	192268	not_specified|not_provided|Retinitis_pigmentosa_54|Retinitis_pigmentosa|Retinal_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0042	0.00938498	0.0155	0.0006	0.0027	0	0.0062	0.0103	0.0172	0.0374	0.0067593	1045	154602	rs187333111	0.0072	0.0073	0.0065	0.0080	0.0327	0.0071	0.0071	0.0317	0.0312	0.0007	0.0023	0.0058	0.0001	0.0020	0.0115	0.0062	0.0070	0.0327	0.0046	0.0046	0.0046	0.0045	0.0329	0.0043	0.0042	0.0288	0.0272	0.0012	0	0.0024	0.0081	0.0002	0.0025	0.0170	0.0056	0.0043	0.0329	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.381880	0.04425	N	1.414120	1	0.08975	N	.	.	.	2.36	0.16089	T	-0.84	0.22944	N	0.034	0.00942	-0.9482	0.41279	T	0.009	0.03448	T	10	0.0017879605	0.00023	T	.	.	.	0.075	0.21907	.	.	0.0762999501168	0.06990	0.018936384238081576	0.01847	0.0132446781389	0.01276	.	.	.	0.001653	0.01084	T	-0.794128	0.00009	T	-0.889111	0.00582	T	0.00190398541054891	0.00019	T	0.412159	0.10706	T	0.023061333	0.01014	0.039281707	0.03985	0.026608579	0.01740	0.04103841	0.04573	-3.133	0.11679	T	.	.	0.069	0.03128	B	.	.	-1.446038	0.00329	0.006	0.53496927683550433	0.04951	0.00499	0.02351	N	AEFDBI	0.029279	0.02734	N	-2.06439528467244	0.00153	0.006557744	-2.0799309052398	0.00206	0.009073605	0.999992787457231	0.74766	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	4.64	-7.23	0.01331	-2.074000	0.01463	-4.086000	0.02351	-2.403000	0.00294	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0964:0.2068:0.0:0.6968	10.729	0.45285	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012703	0.010417	0.006849	0.005882	0.100000	0.008772	0.021605	0.022727	0.02632	851.33	69	chr2	29064997	.	C	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=883;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.06;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	18	0	1	0
chr2	29157221	29157221	G	T	exonic	CLIP4	.	nonsynonymous SNV	CLIP4:NM_001287527:exon11:c.G1273T:p.V425F,CLIP4:NM_001287528:exon11:c.G1273T:p.V425F,CLIP4:NM_024692:exon11:c.G1273T:p.V425F	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0061	0.00319489	0.0048	0.0017	0.0051	0	0.0009	0.0073	0.0088	0.0008	0.0049094	759	154602	rs75318351	0.0065	0.0065	0.0066	0.0065	0.0078	0.0064	0.0064	0.0077	0.0076	0.0010	0.0045	0.0029	0	0.0009	0.0052	0.0078	0.0060	0.0012	0.0047	0.0047	0.0053	0.0040	0.0074	0.0044	0.0043	0.0069	0.0066	0.0014	0.0374	0.0061	0.0020	0	0.0007	0.0068	0.0074	0.0033	0	0.509	0.29688	T	0.678	0.06147	T	0.09	0.25173	B	0.013	0.16460	B	0.068998	0.02228	N	1.672210	1	0.08975	N	1.245	0.31408	L	-0.84	0.74265	T	-0.58	0.17417	N	0.179	0.19325	-0.9440	0.41976	T	0.156	0.48841	T	10	0.004019618	0.00078	T	.	.	.	0.143	0.38195	.	.	0.318252033908	0.31440	0.3200345443645305	0.31916	0.157042325003	0.17732	0.284406214952	0.08114	T	0.018519	0.14916	T	-0.441172	0.01273	T	-0.397095	0.33722	T	0.00381944891225648	0.00040	T	0.745725	0.36599	T	0.040856384	0.05909	0.032742243	0.02056	0.040856384	0.05908	0.032742243	0.02056	-5.497	0.41840	T	.	.	0.068	0.05188	B	.;.;.;.	.;.;.;.	-0.760579	0.01187	0.058	0.91837050119510033	0.21148	0.02791	0.07505	N	AEFDBIJ	0.044468	0.07156	N	-1.48197057849711	0.01977	0.08682876	-1.59351432890094	0.01694	0.07698375	0.999999967347554	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	6.07	-9.06	0.00623	-0.394000	0.07357	-3.120000	0.03044	-0.135000	0.12811	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.2619:0.0941:0.5513:0.0927	8.099	0.30009	458	0.78890	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	613.33	60	chr2	29157221	.	G	T	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=666;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.083;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	18	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.02632	1671.33	39	chr2	30787266	.	G	T	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.043;DP=775;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.09;SOR=0.612	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1083	18	0	1	0
chr2	31138082	31138082	C	G	exonic	GALNT14	.	nonsynonymous SNV	GALNT14:NM_001253826:exon1:c.G5C:p.R2P,GALNT14:NM_001329097:exon1:c.G5C:p.R2P,GALNT14:NM_024572:exon1:c.G5C:p.R2P	.	428	1092	2	0	0	2	0.000914913	.	.	.	2254164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.17770898193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002582670	6.158e-06	6.156e-06	4.085e-06	8.253e-06	8.115e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	1.799e-06	0	8.115e-05	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.006	0.76473	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	0.725479	0.29881	N	1.965	0.53209	M	0.03	0.65563	T	-2.29	0.54702	N	0.463	0.49965	-0.8339	0.53048	T	0.198	0.55343	T	9	0.4358866	0.57790	T	0.177709	0.85307	D	0.172	0.43662	0.518	0.61915	0.705181888856	0.70261	0.8615041280190617	0.86114	0.36822472908	0.38380	0.838212132454	0.87822	D	0.133026	0.46346	T	-0.0661582	0.41939	T	-0.235954	0.51194	T	0.629537609411124	0.37599	D	0.743726	0.36333	T	0.46254689	0.64829	0.5799954	0.75656	0.46254689	0.64830	0.5799954	0.75657	-5.022	0.43845	T	.	.	0.249	0.50545	B	.;.;.	.;.;.	4.789858	0.77721	26.8	0.99435921199707711	0.64522	0.87210	0.46681	D	ALL	0.609737	0.59883	D	-0.248201030775962	0.31175	1.745468	-0.166101635995093	0.32793	1.869225	0.999999999999894	0.74766	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.29	2.45	0.28953	2.514000	0.45164	5.756000	0.49655	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7286:0.1741:0.0973	7.030	0.24139	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr2	31138082	.	C	G	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=827;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.89;SOR=0.619	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1414	18	0	1	0
chr2	31177797	31177797	C	T	exonic	CAPN14	.	nonsynonymous SNV	CAPN14:NM_001145122:exon19:c.G1804A:p.G602R,CAPN14:NM_001321270:exon19:c.G1276A:p.G426R	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00245399478336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909685933	1.072e-05	1.026e-05	1.128e-05	1.014e-05	1.39e-05	6.44e-06	5.1e-06	8.35e-06	6.62e-06	0	0	0	0	0	0	1.39e-05	0	0	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.114	0.28646	T	0.115	0.36630	T	0.0	0.02946	B	0.0	0.01387	B	0.782678	0.09458	N	0.874893	1	0.08975	N	-0.875	0.01443	N	1.35	0.34648	T	1.93	0.00441	N	0.194	0.21319	-1.0326	0.19618	T	0.024	0.10284	T	10	0.06970906	0.10041	T	0.002454	0.04840	T	0.125	0.34456	0.573	0.69695	0.0138822411134	0.00435	0.09669855147721473	0.09601	.	.	0.194304093719	0.00311	T	7.69E-4	0.00362	T	-0.437212	0.01343	T	-0.681785	0.06875	T	0.0711351759056318	0.08808	T	0.544146	0.18565	T	0.03574954	0.04267	0.05796874	0.10632	0.03574954	0.04267	0.05796874	0.10632	-3.871	0.21869	T	.	.	0.103	0.18622	B	.	.	0.087501	0.04920	1.496	0.84428545755533313	0.15286	0.00551	0.02524	N	AEFDBI	0.023329	0.01285	N	-1.58333201359359	0.01350	0.05881547	-1.67477551227832	0.01253	0.05647942	0.99999999638228	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	-10.2	0.00305	-0.772000	0.04800	-2.222000	0.04036	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.2799:0.2473:0.21:0.2628	0.145	0.00081	910	0.22284	EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1454.33	155	chr2	31177797	.	C	T	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=818;ExcessHet=0;FS=2.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.588;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1411	18	0	1	0
chr2	31335978	31335978	G	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon36:c.C3982A:p.P1328T	Xanthinuria, type I, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0484901587843	.	0.000199681	9.884e-05	0	0	0.0001	0	0	0	0.0007	8.41e-05	13	154602	rs531030273	2.805e-05	2.805e-05	1.361e-05	4.263e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0.0002	0	0.0002	2.698e-06	1.656e-05	0.0003	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	0	0	0.0015	0.003	0.68238	D	0.003	0.76473	D	0.865	0.47557	P	0.415	0.44933	B	0.000024	0.55875	D	0.159479	0.999841	0.49770	D	3	0.85872	M	-0.22	0.66474	T	-4.6	0.78976	D	0.392	0.43320	-0.7017	0.60357	T	0.254	0.62428	T	10	0.12646681	0.24042	T	0.04849	0.63394	D	0.230	0.53062	0.621	0.75576	0.761395745623	0.75922	0.6584998832078567	0.65786	0.119754001604	0.13491	0.353624880314	0.18454	T	0.289487	0.66228	T	-0.231751	0.16419	T	-0.234411	0.51343	T	0.80408763885498	0.46633	D	0.89771	0.64209	D	0.5117594	0.67782	0.19271474	0.42801	0.5117594	0.67783	0.19271474	0.42800	-6.438	0.49806	T	.	.	0.110	0.21087	B	.	.	2.894110	0.38337	20.7	0.99090734445505779	0.52198	0.90053	0.50934	D	AEFDGBIJ	0.330318	0.43039	N	0.166592507286959	0.49601	3.158608	0.117570267166431	0.45448	2.80776	0.999997637763197	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.64	2.84	0.32241	3.620000	0.53944	3.229000	0.36897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1809:0.1647:0.6544:0.0	5.469	0.15955	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1661.33	41	chr2	31335978	.	G	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.523;DP=776;ExcessHet=0;FS=3.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.848;SOR=0.999	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	18	0	1	0
chr2	31349801	31349801	C	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon26:c.G2854A:p.D952N	Xanthinuria, type I, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0194339473427	.	.	3.295e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs779432733	1.642e-05	1.642e-05	9.528e-06	2.338e-05	0.0003	1.111e-05	9.33e-06	7.998e-05	6.236e-05	0	0	0	0	0	0.0003	8.093e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.077	0.42436	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.088505	1	0.81001	D	1.4	0.35362	L	1.08	0.39401	T	-3.78	0.71519	D	0.597	0.61596	-0.7472	0.58081	T	0.207	0.56649	T	10	0.5670163	0.65107	D	0.019434	0.41790	T	0.262	0.57482	0.584	0.71118	0.582605312856	0.57933	0.751044622475766	0.75051	0.265509625241	0.29105	0.62730640173	0.56764	T	0.129601	0.45798	T	-0.418718	0.01743	T	-0.564936	0.15916	T	0.938175201416016	0.60858	D	0.984901	0.94786	D	0.66179425	0.75995	0.47812787	0.69768	0.66179425	0.75996	0.47812787	0.69768	-7.899	0.60380	D	.	.	0.175	0.38300	B	.	.	4.845170	0.79146	27.0	0.99918339128978606	0.98586	0.97152	0.72995	D	AEFBI	0.663311	0.63287	D	0.633660127445814	0.75315	6.284283	0.639335462593309	0.77821	6.753363	0.999999992739866	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	5.15	0.70287	5.865000	0.69335	5.911000	0.51023	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9316:0.0:0.0684	15.081	0.71786	940	0.13648	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1674.33	43	chr2	31349801	.	C	T	1674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=899;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.441;SOR=0.613	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	18	0	1	0
chr2	32115733	32115735	CTT	-	exonic	SPAST	.	nonframeshift deletion	SPAST:NM_001363875:exon5:c.803_805del:p.S269del,SPAST:NM_001377959:exon5:c.806_808del:p.S270del,SPAST:NM_199436:exon5:c.806_808del:p.S270del,SPAST:NM_001363823:exon6:c.899_901del:p.S301del,SPAST:NM_014946:exon6:c.902_904del:p.S302del	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330580691	1.371e-06	1.368e-06	1.365e-06	1.378e-06	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1101.29	33	chr2	32115732	.	CCTT	C	1101.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=1.42;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr2	32220571	32220571	A	G	exonic	SLC30A6	.	nonsynonymous SNV	SLC30A6:NM_001330478:exon10:c.A653G:p.H218R,SLC30A6:NM_001330476:exon11:c.A1022G:p.H341R,SLC30A6:NM_001193514:exon13:c.A1175G:p.H392R,SLC30A6:NM_001193515:exon13:c.A1157G:p.H386R,SLC30A6:NM_001330477:exon13:c.A653G:p.H218R,SLC30A6:NM_001330479:exon14:c.A1097G:p.H366R,SLC30A6:NM_017964:exon14:c.A1244G:p.H415R,SLC30A6:NM_001193513:exon15:c.A1364G:p.H455R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0250413194455	.	0.000599042	0.0007	0	0	0.0012	0.0079	0.0003	0.0022	0.0001	0.0005821	90	154602	rs199629847	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0	0	7.653e-05	0.0007	0.0073	0.0002	7.374e-05	0.0003	0.0001	0.0007	0.0007	0.0004	0.0010	0.0006	0.0006	0.0006	0.0002	0.0002	0	0	0	0.0003	0.0006	0.0080	0	0.0003	0.0014	0	0.297	0.16358	T	0.197	0.31730	T	0.0	0.09854	B	0.002	0.12133	B	0.000006	0.62929	N	0.114253	0.785344	0.30329	N	0.55	0.14455	N	-1.0	0.76037	T	-1.26	0.35597	N	0.078	0.18784	-0.8826	0.49553	T	0.188	0.53856	T	10	0.006573975	0.00149	T	0.025041	0.48022	D	0.187	0.46274	.	.	0.383760037723	0.37989	0.6261512412673395	0.62548	0.0322257736927	0.03353	0.36988556385	0.20816	T	0.112134	0.42816	T	-0.348557	0.04819	T	-0.355238	0.38603	T	0.0303586214181415	0.02046	T	0.805919	0.45429	T	0.07196373	0.15972	0.06525835	0.13202	0.07196373	0.15972	0.06525835	0.13201	-2.912	0.09264	T	.	.	0.059	0.12276	B	.;.;.;.;.	.;.;.;.;.	2.191834	0.27947	17.63	0.9445927000002059	0.24896	0.95177	0.63722	D	AEFBI	0.395846	0.47255	N	-0.382785967660561	0.26083	1.420764	-0.18877515601902	0.31948	1.812848	0.124305445128313	0.16954	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	4.29	0.50359	4.289000	0.58806	7.075000	0.57453	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.8403:0.0:0.1597:0.0	8.677	0.33345	374	0.84073	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1901.33	33	chr2	32220571	.	A	G	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.375;DP=805;ExcessHet=0;FS=4.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=2.13;SOR=0.831	GT:AD:DP:GQ:PL	0/1:97,80:177:99:1915,0,2641	18	0	1	0
chr2	32388763	32388763	C	T	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon4:c.C575T:p.T192I,BIRC6:NM_016252:exon4:c.C659T:p.T220I	.	.	.	.	.	.	.	.	.	.	.	4101186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.0169989667319	7.7e-05	.	0.0002	0	8.7e-05	0	0	0.0002	0	0.0005	0.0001423	22	154602	rs141023338	6.42e-05	6.704e-05	5.906e-05	6.938e-05	0.0014	5.343e-05	4.955e-05	0.0007	0.0005	0	7.123e-05	0.0009	0	0	0.0014	3.074e-05	8.366e-05	0.0002	5.913e-05	5.91e-05	6.423e-05	5.379e-05	5.879e-05	3.077e-05	2.21e-05	1.972e-05	1.124e-05	0	0	0	0.0012	0	0	0	5.879e-05	0.0005	0	0.007	0.59928	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.88	0.74689	T	-1.9	0.44284	N	0.832	0.82761	-0.1613	0.78639	T	0.415	0.76198	T	10	0.56686145	0.65099	D	0.016999	0.38515	T	0.437	0.74164	.	.	0.849981730449	0.84853	0.640950145742989	0.64030	0.214563039367	0.23989	0.710480213165	0.68663	T	.	.	.	0.0710586	0.60978	D	0.163231	0.81003	D	0.197222590446472	0.20261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48448	B	.	.	3.431664	0.47700	22.5	0.99454732909965482	0.65479	0.96761	0.70797	D	AEFBI	0.575366	0.57778	D	0.577962769074001	0.71801	5.706421	0.626197395973568	0.76848	6.567315	0.99998599788066	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.851000	0.62594	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.568	0.95394	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	970.33	33	chr2	32388763	.	C	T	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=702;ExcessHet=0;FS=4.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.039;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr2	32415923	32415923	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon10:c.A2548G:p.I850V,BIRC6:NM_016252:exon10:c.A2632G:p.I878V	.	.	.	.	.	.	.	.	.	.	.	2677263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0201834544714	.	.	4.121e-05	0	0	0.0002	0	4.497e-05	0	0	3.23e-05	5	154602	rs780140402	3.352e-05	3.352e-05	2.587e-05	4.126e-05	0.0002	2.566e-05	2.312e-05	4.907e-05	3.165e-05	0	2.236e-05	0.0003	0.0001	0	0.0002	2.428e-05	8.282e-05	1.159e-05	3.942e-05	3.94e-05	1.285e-05	6.725e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.635	0.05076	T	0.344	0.17804	T	.	.	.	.	.	.	0.365327	0.04328	N	1.374590	1	0.08975	N	.	.	.	0.03	0.62183	T	0.05	0.06369	N	0.031	0.00770	-1.0719	0.09001	T	0.105	0.38538	T	10	0.011182696	0.00246	T	0.020183	0.42720	T	0.060	0.17295	.	.	0.19168177325	0.18762	0.1578987500114644	0.15710	0.14333016732	0.16180	0.221379324794	0.01391	T	.	.	.	-0.507552	0.00518	T	-0.660863	0.08208	T	0.0261414553970098	0.01425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	0.621284	0.09899	6.657	0.43283184295674321	0.03248	0.07006	0.13033	N	AEFBI	0.029528	0.02802	N	-1.21758748194383	0.04744	0.214791	-1.12645833803769	0.07197	0.3492166	0.0709368198422467	0.15548	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.76	-0.29	0.12211	0.435000	0.21228	0.111000	0.14782	-0.576000	0.04747	0.008000	0.17931	0.002000	0.18203	0.987000	0.62547	0.3298:0.1152:0.4363:0.1186	2.1	0.03454	297	0.88113	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	3242.83	34	chr2	32415923	.	A	G	3242.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.997;DP=842;ExcessHet=0.119;FS=2.787;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.165;SOR=0.524	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1684,0,1754	17	0	2	0
chr2	32524930	32524930	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon58:c.A11663G:p.D3888G,BIRC6:NM_016252:exon58:c.A11666G:p.D3889G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0265139454112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.175	0.29945	T	.	.	.	.	.	.	0.000800	0.41772	D	0.239574	0.999977	0.53665	D	.	.	.	-0.77	0.73523	T	-1.16	0.29727	N	0.241	0.27197	-0.7895	0.55759	T	0.226	0.59058	T	10	0.17404339	0.32262	T	0.026514	0.49420	D	0.125	0.34456	0.163	0.06730	0.484031237447	0.48032	0.3476016628028357	0.34674	0.240194655366	0.26565	0.712221026421	0.68916	T	.	.	.	-0.011302	0.50084	T	-0.254011	0.49421	T	0.66651064157486	0.39182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.53701	B	.	.	3.631828	0.51449	23.1	0.98477527525471387	0.41931	0.98679	0.85488	D	AEFBI	0.897778	0.84033	D	0.0107310622356182	0.42343	2.54944	0.218966900557996	0.50900	3.277356	0.999999856935611	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	8.639000	0.90787	11.055000	0.85354	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.551	0.75893	227	0.91186	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	33	chr2	32524930	.	A	G	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.506;DP=685;ExcessHet=0;FS=5.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.97;SOR=0.269	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1119	18	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166264:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166265:exon15:c.G1952A:p.R651Q,LTBP1:NM_001166266:exon15:c.G1952A:p.R651Q,LTBP1:NM_206943:exon19:c.G3089A:p.R1030Q	.	428	1036	52	6	0	64	0.0299625	.	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.015306	0.008152	0.005848	0.000000	0.008621	0.024390	0.015152	0.02632	1119.33	33	chr2	33280135	.	G	A	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.696;DP=716;ExcessHet=0;FS=2.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.069;SOR=0.391	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	18	0	1	0
chr2	33293242	33293242	C	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon16:c.C2217G:p.H739Q,LTBP1:NM_001166264:exon16:c.C2217G:p.H739Q,LTBP1:NM_001166265:exon16:c.C2058G:p.H686Q,LTBP1:NM_001166266:exon16:c.C2058G:p.H686Q,LTBP1:NM_206943:exon20:c.C3195G:p.H1065Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0329969010625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.471	0.12211	T	0.098	0.25584	B	0.029	0.21540	B	.	.	.	.	0.899952	0.28724	N	0.815	0.20815	L	-2.17	0.86624	D	-2.05	0.47008	N	0.428	0.55280	-0.7572	0.57556	T	0.322	0.69125	T	9	0.24368098	0.41586	T	0.032997	0.54670	D	0.438	0.74235	0.398	0.42590	0.738716796048	0.73637	0.43872323451413436	0.43789	0.136235181936	0.15368	0.470541238785	0.34754	T	0.263213	0.63487	T	0.0533388	0.58771	T	-0.161159	0.58247	T	0.12536883354187	0.14948	T	0.842016	0.53849	T	0.11105671	0.26245	0.118778594	0.28671	0.11105671	0.26245	0.118778594	0.28670	-4.289	0.31550	T	.	.	0.160	0.35435	B	.;.;.;.;.	.;.;.;.;.	2.800733	0.36843	20.3	0.93504220096171986	0.23312	0.35171	0.25240	N	AEFDBHCIJ	0.146898	0.27045	N	-0.480965365614023	0.22705	1.214251	-0.294243856944924	0.28288	1.576175	0.999999507315215	0.74766	0.50712	0.20391	0	0.627178	0.54094	0	0.662677	0.59975	0	0.635259	0.50027	0	.	.	5.66	3.84	0.43422	0.330000	0.19460	2.248000	0.31665	0.599000	0.40250	0.058000	0.21700	0.999000	0.35428	0.131000	0.19607	0.0:0.7749:0.0:0.2251	7.411	0.26192	854	0.34840	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3690.83	33	chr2	33293242	.	C	G	3690.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.045;DP=877;ExcessHet=0.119;FS=0.435;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.312;SOR=0.656	GT:AD:DP:GQ:PL	0/1:63,89:152:99:2243,0,1435	17	0	2	0
chr2	36578854	36578854	G	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon5:c.C646G:p.L216V,FEZ2:NM_005102:exon5:c.C646G:p.L216V	.	434	1084	4	0	0	4	0.00184162	.	.	.	3253433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0258520234451	.	.	4.983e-05	0	0	0	0	6.01e-05	0	0.0001	3.88e-05	6	154602	rs769440031	5.284e-05	5.267e-05	4.094e-05	6.488e-05	0.0002	4.291e-05	3.965e-05	9.941e-05	7.955e-05	0	0	0	0	0	0.0002	4.954e-05	0.0001	0.0002	3.287e-05	3.941e-05	3.855e-05	2.692e-05	0.0004	1.261e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	0.979	0.59044	D	0.654	0.55195	P	0.000028	0.55875	D	0.121545	0.999947	0.54805	D	2.98	0.85499	M	0.89	0.45636	T	-2.26	0.50502	N	0.624	0.63883	-0.7896	0.55753	T	0.172	0.51452	T	9	0.30508757	0.48028	T	0.025852	0.48797	D	0.282	0.59981	.	.	0.480724696071	0.47704	0.12406965301096921	0.12332	0.0491442954324	0.05378	0.538773953915	0.44272	T	0.189232	0.60261	T	-0.197578	0.21155	T	-0.316077	0.43002	T	0.605312645435333	0.36612	D	0.942106	0.78488	D	0.261946	0.49254	0.20248227	0.44278	0.261946	0.49254	0.20248227	0.44277	-8.219	0.63048	D	.	.	0.297	0.52744	B	.;.;.;.	.;.;.;.	3.776362	0.54268	23.5	0.99619493435241069	0.75353	0.96502	0.69459	D	AEFDGBHI	0.438293	0.49774	N	0.244560647277839	0.53369	3.506197	0.197315045537455	0.49700	3.170073	0.999999937067183	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	1.463000	0.34887	8.640000	0.77890	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.025000	0.12405	0.1591:0.0:0.6862:0.1547	5.934	0.18390	907	0.22727	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	692.33	34	chr2	36578854	.	G	C	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=799;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.26;SOR=1.426	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	18	0	1	0
chr2	36808551	36808551	T	A	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177970:exon13:c.T1361A:p.V454E,VIT:NM_001177971:exon13:c.T1358A:p.V453E,VIT:NM_001177969:exon14:c.T1424A:p.V475E,VIT:NM_001328661:exon14:c.T1403A:p.V468E,VIT:NM_053276:exon15:c.T1469A:p.V490E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0689531476277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923432194	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.005	0.74150	D	0.985	0.61118	D	0.923	0.65830	D	0.000018	0.62929	D	0.115897	0.999989	0.58761	D	2.43	0.70455	M	0.47	0.56114	T	-3.25	0.69835	D	0.799	0.79503	-0.5914	0.65165	T	0.276	0.64742	T	10	0.7380029	0.74757	D	0.068953	0.70595	D	0.241	0.54641	0.67	0.80803	0.688990105682	0.68632	0.9172248043982921	0.91697	0.0489332366469	0.05346	0.445464611053	0.31324	T	0.348745	0.71669	T	-0.0806893	0.39602	T	-0.256827	0.49140	T	0.930004179477692	0.59443	D	0.928207	0.74555	D	0.43428695	0.63032	0.4857524	0.70235	0.43428695	0.63033	0.4857524	0.70235	-14.91	0.96401	D	.	.	0.378	0.58487	A	.;.;.;.;.;.	.;.;.;.;.;.	4.262252	0.64784	24.7	0.98555528601929077	0.42909	0.91198	0.53052	D	AEFBCI	0.719386	0.67029	D	0.304820295171823	0.56397	3.804203	0.219925142477622	0.50953	3.282252	0.999463399567322	0.39843	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.26	2.93	0.33092	4.004000	0.56780	3.462000	0.38521	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.1494:0.0:0.8506	9.004	0.35264	720	0.55521	.;von Willebrand factor, type A;von Willebrand factor, type A;von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2075.33	36	chr2	36808551	.	T	A	2075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.006;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1446	18	0	1	0
chr2	36990652	36990652	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon34:c.C5693T:p.P1898L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.033576986744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.399e-06	1.368e-06	0	2.823e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.246	0.23984	T	0.044	0.21686	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	-0.17	0.65563	T	-5.79	0.88065	D	0.866	0.86297	-0.8360	0.52911	T	0.193	0.54652	T	10	0.6144354	0.67626	D	0.033577	0.55080	D	0.404	0.71714	0.447	0.50629	0.618220796974	0.61513	0.48376111353466017	0.48296	0.170914286032	0.19256	0.796208024025	0.81386	T	0.209461	0.56968	T	0.318224	0.84345	D	0.219331	0.84141	D	0.987682282924652	0.78133	D	0.965953	0.87464	D	0.41168737	0.61533	0.4691633	0.69212	0.41168737	0.61534	0.4691633	0.69212	-5.657	0.43309	T	.	.	0.361	0.57286	A	.	.	4.394536	0.67843	25.2	0.92666016277297514	0.22147	0.99270	0.93736	D	AEFGBI	0.867027	0.78666	D	0.100961791171577	0.46506	2.890058	0.30405626131778	0.55778	3.740601	0.99999999981663	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.964000	0.99056	9.766000	0.81532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.445	0.94836	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2244.83	34	chr2	36990652	.	G	A	2244.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.09;DP=779;ExcessHet=0.119;FS=1.154;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.657;SOR=0.789	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1077,0,1274	17	0	2	0
chr2	37089747	37089749	AAG	-	exonic	GPATCH11	.	nonframeshift deletion	GPATCH11:NM_001322249:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371856:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371858:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371860:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371861:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371862:exon3:c.167_169del:p.E59del,GPATCH11:NM_174931:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371859:exon4:c.167_169del:p.E59del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767462069	1.643e-05	1.573e-05	1.269e-05	2.028e-05	0.0002	1.094e-05	9.14e-06	0.0001	8.112e-05	3.165e-05	0	0	0.0002	0	0	1.019e-05	0	3.786e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1553.29	34	chr2	37089746	.	AAAG	A	1553.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=743;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.926;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1007	18	0	1	0
chr2	37223207	37223207	G	A	exonic	CEBPZ	.	nonsynonymous SNV	CEBPZ:NM_005760:exon3:c.C1844T:p.A615V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0101043531077	0.0017	0.00179712	0.0031	0.0007	0.0014	0	0.0098	0.0038	0.0011	0.0022	0.0030918	478	154602	rs34983085	0.0034	0.0034	0.0035	0.0033	0.0037	0.0033	0.0033	0.0036	0.0035	0.0004	0.0019	3.827e-05	0	0.0079	0.0014	0.0037	0.0034	0.0022	0.0025	0.0025	0.0023	0.0028	0.0033	0.0023	0.0022	0.0029	0.0028	0.0007	0	0.0027	0	0	0.0072	0	0.0033	0.0005	0.0029	0.505	0.07619	T	0.638	0.07015	T	0.015	0.17086	B	0.038	0.23361	B	0.001491	0.38855	N	0.286477	0.707963	0.33489	D	0.835	0.21042	L	1.95	0.22474	T	-0.14	0.09135	N	0.206	0.22870	-1.0746	0.08431	T	0.021	0.08963	T	10	0.0071903467	0.00163	T	0.010104	0.26235	T	0.038	0.09825	.	.	0.295974979623	0.29207	0.07154582588515458	0.07091	0.0194106171819	0.01902	0.474713921547	0.35330	T	0.014587	0.12389	T	-0.593585	0.00159	T	-0.623916	0.10881	T	0.0183644398619737	0.00554	T	0.882012	0.60217	D	0.043668225	0.06845	0.060276493	0.11451	0.043668225	0.06844	0.060276493	0.11451	-2.072	0.03465	T	.	.	0.079	0.07224	B	.	.	2.565120	0.33231	19.28	0.62027503712882337	0.06858	0.89318	0.49710	D	AEFBI	0.112175	0.22182	N	-0.218766830305538	0.32363	1.824406	-0.04284875353015	0.37801	2.218261	0.999939446269303	0.46732	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.46	3.27	0.36580	2.325000	0.43499	3.865000	0.40157	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4436:0.0:0.5564:0.0	4.431	0.10952	513	0.74941	CCAAT-binding factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1622.33	37	chr2	37223207	.	G	A	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.405;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr2	37316479	37316479	G	A	exonic	PRKD3	.	nonsynonymous SNV	PRKD3:NM_005813:exon2:c.C46T:p.P16S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0132083827929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950826254	8.893e-06	8.893e-06	5.445e-06	1.238e-05	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	4.497e-06	9.935e-05	0	2.627e-05	2.626e-05	1.284e-05	4.032e-05	0.0002	8.14e-06	5.14e-06	5.283e-05	2.834e-05	2.411e-05	0	0.0002	0	0	0	0	0	0	0	0.098	0.30800	T	0.151	0.32355	T	0.001	0.07471	B	0.003	0.08700	B	0.001147	0.40056	N	0.254563	0.963811	0.38370	D	1.245	0.31408	L	-0.03	0.63077	T	-0.57	0.17210	N	0.065	0.13484	-0.9532	0.40416	T	0.145	0.46823	T	10	0.09675041	0.17377	T	0.013208	0.32434	T	0.041	0.10877	0.119	0.02647	0.772271509594	0.77018	0.37792637580828053	0.37707	0.26549997436	0.29105	0.457286059856	0.32939	T	0.071591	0.34246	T	-0.235974	0.15866	T	-0.493872	0.22986	T	0.0371487612566525	0.03182	T	0.654634	0.26482	T	0.03476483	0.03964	0.042354677	0.05024	0.03476483	0.03964	0.042354677	0.05024	-4.128	0.25701	T	.	.	0.069	0.03231	B	.;.	.;.	1.784542	0.22686	15.72	0.89736014642451534	0.19055	0.91725	0.54131	D	AEFBI	0.220695	0.34542	N	-0.650219626373267	0.17455	0.8982734	-0.550637914121366	0.20789	1.121692	0.999994443301198	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.67	3.85	0.43556	0.718000	0.25537	5.148000	0.47742	-0.182000	0.10109	0.957000	0.33433	1.000000	0.68203	0.622000	0.31948	0.1472:0.1387:0.7141:0.0	7.334	0.25772	572	0.70300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	86	chr2	37316479	.	G	A	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.327;DP=760;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.602;SOR=0.501	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.07895	10407.8	176	chr2	38071251	.	C	T	10407.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.82;DP=1593;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.148;SOR=0.772	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	16	0	3	0
chr2	38748123	38748123	T	G	exonic	SRSF7	.	nonsynonymous SNV	SRSF7:NM_001031684:exon5:c.A496C:p.I166L,SRSF7:NM_001195446:exon5:c.A496C:p.I166L,SRSF7:NM_001363802:exon5:c.A496C:p.I166L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00529678837023	.	0.000399361	0.0005	9.641e-05	0.0003	0.0001	0.0002	0.0002	0	0.0021	0.000414	64	154602	rs539664765	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	0.0003	0.0009	0	0.0002	3.744e-05	0.0026	0.0002	0.0004	0.0029	0.0006	0.0006	0.0004	0.0008	0.0034	0.0005	0.0005	0.0027	0.0024	0.0001	0	0.0034	0	0	0	0	0.0003	0.0009	0.0027	0.269	0.16091	T	0.753	0.15206	T	0.0	0.02946	B	0.0	0.01387	B	0.375819	0.13460	N	0.659472	0.997392	0.22676	N	0.69	0.16971	N	2.52	0.14160	T	0.06	0.06253	N	0.222	0.26111	-1.0254	0.21952	T	0.047	0.19998	T	10	0.0055072904	0.00122	T	0.005297	0.13556	T	0.092	0.26621	0.332	0.31843	0.165150595986	0.16160	0.33724423367539574	0.33637	0.472962302528	0.46531	0.46339225769	0.33776	T	0.021058	0.16467	T	-0.572082	0.00215	T	-0.598524	0.12935	T	0.0124918923685489	0.00206	T	0.686731	0.29555	T	0.10462176	0.24733	0.07331182	0.15918	0.10462176	0.24732	0.07331182	0.15917	-3.551	0.18422	T	.	.	0.078	0.14155	B	.;.;.	.;.;.	2.602611	0.33784	19.44	0.9405799049145338	0.24191	0.43476	0.27106	N	AEFDBCI	0.180444	0.30775	N	-0.425564088730779	0.24577	1.327958	-0.357556821388924	0.26275	1.450307	0.999999945444375	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.96	4.07	0.46726	0.657000	0.24647	4.050000	0.41500	-0.201000	0.08892	0.007000	0.17678	0.879000	0.27682	0.995000	0.73285	0.0:0.7701:0.1474:0.0825	9.118	0.35930	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1343.33	45	chr2	38748123	.	T	G	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.414;SOR=0.729	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1374	18	0	1	0
chr2	38861016	38861016	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon5:c.C1088T:p.S363F,DHX57:NM_198963:exon5:c.C1394T:p.S465F	.	.	.	.	.	.	.	.	.	.	.	3243748	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00573104893292	0.0005	0.000399361	0.0002	0.0012	0.0002	0	0	0.0001	0	0.0001	0.0001876	29	154602	rs36035994	8.898e-05	8.893e-05	7.083e-05	0.0001	0.0015	7.626e-05	7.171e-05	0.0011	0.0010	0.0015	0.0002	3.835e-05	0	0	0.0005	3.778e-05	0.0003	5.802e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	1.47e-05	0.0005	0	.	.	.	0.109	0.37449	T	0.008	0.14655	B	0.007	0.12992	B	0.200876	0.16604	N	0.490290	0.885408	0.27976	N	1.87	0.49600	L	.	.	.	.	.	.	0.311	0.35088	-1.0408	0.17071	T	0.018	0.07659	T	10	0.025093138	0.00714	T	0.005731	0.14862	T	.	.	.	.	0.391930172978	0.38808	0.41092860481546084	0.41008	.	.	0.427234262228	0.28830	T	0.031671	0.22147	T	-0.386426	0.02836	T	-0.378292	0.35922	T	0.027588427066803	0.01629	T	0.691931	0.30130	T	0.052552734	0.09818	0.08448331	0.19439	0.052552734	0.09817	0.08448331	0.19439	-5.272	0.39665	T	.	.	0.115	0.22933	B	.	.	2.882443	0.38144	20.7	0.75502386985745762	0.11100	0.96276	0.68351	D	AEFBI	0.239485	0.36144	N	-0.645145429916276	0.17601	0.9071357	-0.529285815367922	0.21359	1.155091	0.763982981762272	0.23557	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	3.608000	0.53860	6.667000	0.56266	-0.119000	0.14319	0.998000	0.41325	1.000000	0.68203	0.500000	0.29017	0.0705:0.0:0.9295:0.0	14.480	0.67152	742	0.52873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1178.33	33	chr2	38861016	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=750;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.283;SOR=0.984	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T,ARHGEF33:NM_001367623:exon16:c.G1562C:p.S521T	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014170	0.000000	0.024038	0.008333	0.083333	0.000000	0.029126	0.009091	0.02632	2661.33	34	chr2	38959867	.	G	C	2661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.445;DP=933;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.02;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	18	0	1	0
chr2	39272307	39272307	T	C	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon25:c.A1886G:p.K629R,MAP4K3:NM_003618:exon26:c.A1949G:p.K650R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0259628171334	.	0.000399361	0.0002	0	0	0.0031	0	0	0	0	0.000194	30	154602	rs200566214	8.281e-05	8.277e-05	7.627e-05	8.942e-05	0.0027	7.072e-05	6.621e-05	0.0023	0.0021	8.968e-05	0	0	0.0027	0	0	2.699e-06	4.971e-05	5.797e-05	7.22e-05	7.217e-05	3.853e-05	0.0001	0.0019	3.967e-05	3.124e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	0	0	0.0002	1.0	0.00964	T	0.789	0.04587	T	0.049	0.22227	B	0.048	0.24975	B	0.000000	0.84330	D	0.000000	0.99979	0.58761	D	0.025	0.08010	N	-0.68	0.72678	T	-0.01	0.07155	N	0.21	0.23380	-0.8757	0.50097	T	0.160	0.49447	T	10	0.0128545165	0.00275	T	0.025963	0.48901	D	0.091	0.26358	.	.	0.496871534903	0.49321	0.34795625316923146	0.34709	0.369682073933	0.38498	0.684638142586	0.64934	T	0.050964	0.28745	T	-0.408958	0.02019	T	-0.365143	0.37457	T	0.0825120621087766	0.10306	T	0.854615	0.54143	D	0.15430418	0.34932	0.21521665	0.46101	0.15430418	0.34931	0.21521665	0.46100	-2.044	0.03351	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	3.477047	0.48538	22.6	0.98891922597102855	0.48019	0.88586	0.48583	D	AEFBI	0.348865	0.44284	N	-0.288213874232632	0.29601	1.643074	-0.0231405420792079	0.38671	2.281758	0.991200881179697	0.32408	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	3.634000	0.54043	2.933000	0.35626	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.122	0.81171	401	0.82673	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	605.33	35	chr2	39272307	.	T	C	605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.06;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.83;SOR=0.653	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1116	18	0	1	0
chr2	39769856	39769856	C	A	exonic	THUMPD2	.	nonsynonymous SNV	THUMPD2:NM_001321468:exon3:c.G526T:p.D176Y,THUMPD2:NM_001321469:exon3:c.G247T:p.D83Y,THUMPD2:NM_001321470:exon3:c.G247T:p.D83Y,THUMPD2:NM_001321474:exon3:c.G526T:p.D176Y,THUMPD2:NM_001321475:exon3:c.G247T:p.D83Y,THUMPD2:NM_025264:exon3:c.G526T:p.D176Y	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	7.7e-05	0.00439297	0.0017	0	8.673e-05	0	0	3.025e-05	0.0011	0.0125	0.0015071	233	154602	rs372180419	0.0008	0.0008	0.0005	0.0012	0.0125	0.0008	0.0008	0.0119	0.0116	6.025e-05	0.0001	0	0	0	0.0002	6.929e-05	0.0008	0.0125	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	7.352e-05	0	0.0147	0.005	0.63226	D	0.013	0.63109	D	0.991	0.64070	D	0.913	0.64886	D	0.250127	0.03641	N	1.495250	1	0.08975	N	2.175	0.60977	M	.	.	.	-4.02	0.74269	D	0.323	0.36359	-0.9973	0.30673	T	0.131	0.44148	T	8	0.003576994	0.00065	T	.	.	.	0.052	0.14661	.	.	0.0551355673512	0.04727	0.3979613167786036	0.39711	0.0648718899618	0.07242	0.23792591691	0.02606	T	0.246994	0.61655	T	-0.381991	0.03027	T	-0.311092	0.43541	T	0.0844520195745752	0.10547	T	0.729327	0.34443	T	0.21591656	0.44037	0.16266005	0.37773	0.21591656	0.44037	0.16266005	0.37773	-5.698	0.43676	T	.	.	0.080	0.07985	B	.	.	2.874130	0.38013	20.6	0.99134319136610594	0.53356	0.19810	0.20804	N	AEFDBI	0.107701	0.21449	N	-0.36169959923519	0.26845	1.468235	-0.499697313726954	0.22163	1.202416	0.106550817213823	0.16532	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.26	-0.682	0.10769	0.144000	0.15956	-0.176000	0.11179	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.0:0.4192:0.1667:0.4141	4.340	0.10544	727	0.54702	THUMP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1466.33	33	chr2	39769856	.	C	A	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=721;ExcessHet=0;FS=3.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.776;SOR=1.071	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1305	18	0	1	0
chr2	40429705	40429705	G	T	exonic	SLC8A1	.	nonsynonymous SNV	SLC8A1:NM_001112800:exon1:c.C576A:p.D192E,SLC8A1:NM_001252624:exon1:c.C576A:p.D192E,SLC8A1:NM_001112801:exon2:c.C576A:p.D192E,SLC8A1:NM_001112802:exon2:c.C576A:p.D192E,SLC8A1:NM_001351483:exon2:c.C576A:p.D192E,SLC8A1:NM_001351484:exon2:c.C576A:p.D192E,SLC8A1:NM_001351485:exon2:c.C576A:p.D192E,SLC8A1:NM_001351486:exon2:c.C576A:p.D192E,SLC8A1:NM_001351487:exon2:c.C576A:p.D192E,SLC8A1:NM_001351488:exon2:c.C576A:p.D192E,SLC8A1:NM_001351489:exon2:c.C576A:p.D192E,SLC8A1:NM_001351490:exon2:c.C576A:p.D192E,SLC8A1:NM_001351491:exon2:c.C576A:p.D192E,SLC8A1:NM_001351492:exon2:c.C576A:p.D192E,SLC8A1:NM_001351493:exon2:c.C576A:p.D192E,SLC8A1:NM_001351494:exon2:c.C576A:p.D192E,SLC8A1:NM_001372263:exon2:c.C576A:p.D192E,SLC8A1:NM_021097:exon2:c.C576A:p.D192E	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0187650653858	.	.	2.48e-05	0	0	0	0	0	0.0033	0	1.94e-05	3	154602	rs755112990	2.326e-05	2.394e-05	1.906e-05	2.751e-05	0.0012	1.675e-05	1.478e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.349e-05	6.624e-05	9.275e-05	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.212	0.19710	T	0.39	0.16231	T	0.998	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.21	0.30464	L	-0.01	0.62762	T	-1.19	0.34397	N	0.39	0.43223	-0.8018	0.55038	T	0.230	0.59534	T	10	0.37172884	0.53527	T	0.018765	0.40941	T	0.346	0.66769	0.67	0.80803	0.866202921342	0.86490	0.4890325140458355	0.48823	0.342380788811	0.36179	0.848488390446	0.89386	D	0.377489	0.74066	T	-0.152384	0.27938	T	-0.219997	0.52737	T	0.306252896785736	0.25260	T	0.845515	0.52873	T	0.092284575	0.21646	0.11436145	0.27605	0.092284575	0.21645	0.11436145	0.27604	-4.196	0.28610	T	.	.	0.098	0.20972	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.401903	0.00359	0.006	0.86693522749917662	0.16709	0.18814	0.20413	N	AEFGBI	0.413196	0.48297	N	-0.838173219575619	0.12343	0.6010494	-0.869131757947399	0.12828	0.6621661	0.999917962859243	0.45857	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.59	-1.28	0.08834	-0.830000	0.04517	0.074000	0.14299	-3.559000	0.00076	0.003000	0.16062	0.000000	0.08366	0.079000	0.17189	0.5729:0.0:0.4271:0.0	10.057	0.41421	778	0.48011	.;Sodium/calcium exchanger membrane region;.;.;.;.;Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	36	chr2	40429705	.	G	T	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=824;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=1.14;SOR=0.601	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr2	42444578	42444578	T	C	exonic	KCNG3	.	nonsynonymous SNV	KCNG3:NM_133329:exon2:c.A667G:p.I223V,KCNG3:NM_172344:exon2:c.A634G:p.I212V	.	425	1096	1	0	0	1	0.000455996	0.0005	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0407758002022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84e-06	5.472e-06	5.493e-06	4.178e-06	6.336e-06	2.01e-06	1.29e-06	2.64e-06	1.69e-06	0	0	0	0	0	0	6.336e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.09319	T	0.528	0.10173	T	0.689	0.48154	P	0.265	0.66185	B	0.001271	0.39594	N	0.212522	0.99282	0.41754	D	0.44	0.12706	N	-5.04	0.98594	D	-0.32	0.12283	N	0.156	0.18784	0.744	0.93720	D	0.903	0.96772	D	10	0.22830549	0.39732	T	0.040776	0.59564	D	0.391	0.70684	0.33	0.31519	0.917485680295	0.91665	0.7248189267334971	0.72425	1.07319002152	0.76879	0.706559419632	0.68094	T	0.349195	0.71708	T	0.0527617	0.58697	T	-0.161988	0.58173	T	0.532516896724701	0.33827	D	0.606339	0.22814	T	0.04282613	0.06567	0.0420939	0.04935	0.04282613	0.06566	0.0420939	0.04935	-3.771	0.20372	T	.	.	0.119	0.24498	B	.;.	.;.	2.197022	0.28021	17.66	0.99185614150044987	0.54819	0.90773	0.52233	D	AEFBI	0.564945	0.57153	D	-0.0503418427186006	0.39587	2.336904	0.0423190033537807	0.41703	2.509832	0.977059780734879	0.29783	0.660377	0.49826	0	0.624306	0.53593	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	5.16	4.0	0.45673	4.041000	0.57051	5.037000	0.46877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0868:0.0:0.9132	9.668	0.39163	642	0.63909	Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	37	chr2	42444578	.	T	C	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.104;DP=705;ExcessHet=0;FS=3.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.56;ReadPosRankSum=0.483;SOR=1.327	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	18	0	1	0
chr2	42767595	42767595	G	A	exonic	HAAO	.	nonsynonymous SNV	HAAO:NM_012205:exon9:c.C782T:p.S261L	.	409	1107	6	0	0	6	0.0027027	0.0014	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.000599042	0.0015	0	0.0006	0.0005	0	0.0008	0.0035	0.0043	0.0005563	86	154602	rs534302281	0.0005	0.0005	0.0004	0.0007	0.0035	0.0005	0.0005	0.0032	0.0030	0.0001	0.0004	0.0006	0.0002	1.961e-05	0.0030	0.0003	0.0008	0.0035	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	0.0003	0	0.0004	0	0.0034	0.0004	0	0.0017	0.324	0.13392	T	0.304	0.20100	T	0.001	0.07471	B	0.0	0.01387	B	0.199162	0.03307	N	1.574650	0.999997	0.08975	N	0.93	0.23535	L	1.62	0.28189	T	-1.13	0.29114	N	0.145	0.14622	-1.0467	0.15332	T	0.036	0.15640	T	9	0.0066372156	0.00150	T	.	.	.	0.030	0.07022	.	.	0.406394481233	0.40250	0.2559838105515484	0.25512	0.0531030045541	0.05856	0.4195548594	0.27775	T	0.003949	0.03363	T	-0.608041	0.00130	T	-0.649236	0.09007	T	0.0083693863811171	0.00101	T	0.492651	0.15191	T	0.12217173	0.28715	0.08638086	0.20010	0.13329817	0.31009	0.098226376	0.23410	-4.779	0.34345	T	.	.	0.081	0.08224	B	.	.	1.678634	0.21398	15.18	0.95378440945246834	0.26800	0.05083	0.10879	N	AEFDBCI	0.245470	0.36640	N	-0.908894475437126	0.10633	0.5090536	-0.88252366091611	0.12508	0.6438087	0.950587112832461	0.27903	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	4.71	-0.0748	0.13062	0.221000	0.17463	0.290000	0.16862	0.674000	0.70861	0.124000	0.23245	0.004000	0.18990	0.928000	0.46473	0.4058:0.0:0.3555:0.2388	2.655	0.04704	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003036	0.000000	0.004076	0.000000	0.000000	0.000000	0.003086	0.007576	0.02632	1123.33	41	chr2	42767595	.	G	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=748;ExcessHet=0;FS=4.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.451;SOR=1.156	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1120	18	0	1	0
chr2	43224600	43224600	-	CTGCTG	exonic	ZFP36L2	.	nonframeshift insertion	ZFP36L2:NM_006887:exon2:c.1203_1204insCAGCAG:p.Q401_G402insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00479233	0.0343	0.0045	0.0227	0	0	0.0310	0.0455	0.0495	0.0019978	52	26028	rs556928050	0.0057	0.0058	0.0053	0.0061	0.0179	0.0056	0.0056	0.0170	0.0167	0.0009	0.0021	0.0025	7.094e-05	0.0057	0.0048	0.0054	0.0061	0.0179	0.0047	0.0047	0.0042	0.0052	0.0205	0.0044	0.0043	0.0173	0.0161	0.0009	0.0088	0.0039	0.0041	0.0002	0.0056	0.0034	0.0063	0.0057	0.0205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1211.29	37	chr2	43224600	.	C	CCTGCTG	1211.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=0.115;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1056	18	0	1	0
chr2	43224865	43224873	GGAGGCCGC	-	exonic	ZFP36L2	.	nonframeshift deletion	ZFP36L2:NM_006887:exon2:c.931_939del:p.A311_S313del	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.236e-05	0	0	0	0	0.0002	0	0	3.84e-05	1	26028	rs779543125	2.912e-05	3.147e-05	2.811e-05	3.016e-05	0.0002	2.18e-05	1.915e-05	0.0001	7.092e-05	0	0.0002	0	0	0	0.0002	1.968e-05	3.603e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	672.29	22	chr2	43224864	.	TGGAGGCCGC	T	672.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.021;DP=554;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=-2.008;SOR=0.765	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,901	18	0	1	0
chr2	43675916	43675916	T	A	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A407T:p.N136I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.412	0.45237	.	.	.	.	.	.	.	0.22816008	0.39713	T	.	.	.	.	.	.	.	.	.	0.5518910618632601	0.55115	.	.	0.249532878399	0.03719	T	0.17616	0.52600	T	.	.	.	.	.	.	.	.	.	0.887611	0.61581	D	0.14513706	0.33283	0.19014652	0.42401	0.14513706	0.33283	0.19014652	0.42400	-8.6	0.65089	D	.	.	0.245	0.47965	B	.	.	2.586626	0.33551	19.37	0.76438180280518553	0.11468	0.81233	0.40680	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999705049663039	0.41986	0.11394	0.02926	0	0.059962	0.00310	0	0.112256	0.03162	0	0.166187	0.04126	0	0.250524	0.32652	2.75	-2.78	0.05512	0.140000	0.15877	-1.225000	0.05976	0.609000	0.47794	0.955000	0.33325	0.000000	0.08366	0.965000	0.52897	0.0:0.3411:0.174:0.4849	4.425	0.10923	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3225.33	203	chr2	43675916	.	T	A	3225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1318;ExcessHet=0;FS=3.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.214;SOR=0.53	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr2	43676045	43676045	T	C	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A278G:p.K93R	.	406	1113	3	0	0	3	0.0013459	.	.	.	2205167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0014	0.000599042	0.0007	0	0.0005	0	0	0.0011	0.0011	0.0002	0.0007244	112	154602	rs139124904	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0001	0.0006	0.0042	0	0	0.0026	0.0007	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0.0040	0	0	0.0068	0.0006	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.021444082	0.00513	T	.	.	.	.	.	.	.	.	.	0.4446345336837162	0.44381	.	.	0.293852090836	0.09487	T	0.05551	0.30028	T	.	.	.	.	.	.	.	.	.	0.90471	0.66491	D	0.081111036	0.18621	0.20556799	0.44732	0.081111036	0.18620	0.20556799	0.44731	-3.889	0.22137	T	.	.	0.087	0.11414	B	.	.	3.004991	0.40166	21.1	0.88668321645987846	0.18159	0.85830	0.45008	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996518426726	0.74766	0.199473	0.04044	0	0.059962	0.00310	0	0.112256	0.03162	0	0.250985	0.05351	0	0.679347	0.42376	3.14	1.99	0.25423	3.963000	0.56480	0.853000	0.22156	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.0:0.1223:0.0:0.8777	6.592	0.21847	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2386.33	173	chr2	43676045	.	T	C	2386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.733;DP=2615;ExcessHet=0;FS=3.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.43;SOR=0.998	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	18	0	1	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.015152	0.023098	0.017544	0.050000	0.025862	0.018293	0.049242	0.07895	2159.79	35	chr2	43697278	.	C	T	2159.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.3672;FS=1.086;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.662;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	16	0	3	0
chr2	43794624	43794624	A	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon6:c.A488C:p.N163T,DYNC2LI1:NM_001348912:exon6:c.A488C:p.N163T,DYNC2LI1:NM_001348913:exon6:c.A488C:p.N163T,DYNC2LI1:NM_015522:exon6:c.A488C:p.N163T,DYNC2LI1:NM_016008:exon6:c.A488C:p.N163T	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00274801557525	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762694520	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.656e-05	0.0004	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.507	0.13306	T	0.579	0.09267	T	0.0	0.16609	B	0.002	0.10090	B	0.082474	0.20807	N	0.548927	1	0.08975	N	0.895	0.22405	L	2.36	0.30669	T	-0.64	0.18670	N	0.225	0.32812	-1.0373	0.18140	T	0.041	0.17827	T	10	0.022382349	0.00558	T	0.002748	0.05694	T	0.035	0.08770	0.287	0.24601	0.0551355673512	0.04727	0.39371943880390525	0.39286	0.038995642377	0.04153	0.310890257359	0.12041	T	0.027774	0.20267	T	-0.526149	0.00405	T	-0.683034	0.06800	T	0.00992984838126777	0.00132	T	0.580242	0.20999	T	0.05328237	0.10061	0.040197138	0.04289	0.05328237	0.10061	0.040197138	0.04289	-4.09	0.25142	T	0.08420241075176124	0.04623	0.068	0.04975	B	.;.;.	.;.;.	0.857895	0.12304	8.843	0.84101207753127771	0.15097	0.06249	0.12239	N	AEBI	0.074239	0.14875	N	-0.97418555632361	0.09157	0.4322553	-0.909555875663623	0.11868	0.6072635	7.15942430231962E-5	0.04552	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.04	0.19220	0.307000	0.19048	0.443000	0.18445	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.4533:0.3421:0.0735:0.1311	3.247	0.06398	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	35	chr2	43794624	.	A	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=794;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.119;SOR=0.875	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1257	18	0	1	0
chr2	43813208	43813208	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon13:c.A1864G:p.M622V	Sitosterolemia, Autosomal recessive	0	1457	65	0	0	65	0.0218194	.	.	.	191425	Sitosterolemia_2|Sitosterolemia_1|Cardiovascular_phenotype|not_provided|Sitosterolemia|not_specified	MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.011	.	0.0052	0.00239617	0.0054	0.0016	0.0041	0.0006	0.0003	0.0074	0.0102	0.0051	0.005401	835	154602	rs140374206	0.0061	0.0061	0.0060	0.0062	0.0202	0.0060	0.0059	0.0172	0.0161	0.0019	0.0048	0.0155	0.0002	0.0006	0.0202	0.0064	0.0071	0.0055	0.0048	0.0048	0.0050	0.0045	0.0066	0.0045	0.0044	0.0061	0.0059	0.0014	0.0011	0.0057	0.0193	0	0	0.0544	0.0066	0.0109	0.0041	0.531	0.07002	T	0.144	0.33109	T	0.0	0.02946	B	0.0	0.01387	B	0.216745	0.03425	N	1.568630	1	0.08975	N	0	0.06538	N	-2.49	0.89145	D	-0.36	0.13035	N	0.018	0.00252	-0.6531	0.62579	T	0.334	0.70125	T	10	0.0076950192	0.00175	T	.	.	.	0.011	0.01250	.	.	0.504052602331	0.50044	0.7185875474098846	0.71801	0.0703236255297	0.07878	0.225100964308	0.01626	T	0.198767	0.55585	T	-0.493517	0.00622	T	-0.472284	0.25270	T	0.000250442206110192	0.00002	T	0.458654	0.13238	T	0.097186916	0.22905	0.107392155	0.25852	0.10175871	0.24038	0.097454526	0.23198	-2.812	0.08294	T	.	.	0.056	0.00487	B	.;.	.;.	-0.629185	0.01494	0.094	0.68266087374631024	0.08605	0.02739	0.07414	N	AEFBI	0.158635	0.28432	N	-1.60752377494272	0.01227	0.05337413	-1.64739804604442	0.01389	0.06277521	0.781759617847762	0.23856	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-5.22	0.02592	-0.667000	0.05374	-2.542000	0.03629	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.1141:0.5016:0.0:0.3844	8.877	0.34510	650	0.62973	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.040404	0.023098	0.017544	0.000000	0.000000	0.009146	0.011364	0.02632	1409.33	34	chr2	43813208	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.303;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.052;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	43875162	43875162	C	T	exonic	ABCG8	.	nonsynonymous SNV	ABCG8:NM_001357321:exon11:c.C1502T:p.P501L,ABCG8:NM_022437:exon11:c.C1505T:p.P502L	Sitosterolemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2104130	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.832	0.236598454583	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs761153163	2.531e-05	2.531e-05	3.403e-05	1.65e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0001	0	0.0003	0	0	0	0	1.978e-05	4.967e-05	0	9.853e-05	9.85e-05	8.99e-05	0.0001	0.0007	6.005e-05	4.878e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	-0.89	0.74793	T	-9.64	0.98556	D	0.961	0.97095	0.294	0.87466	D	0.583	0.85035	D	10	0.9247127	0.91821	D	0.236598	0.88507	D	0.832	0.94691	0.688	0.82558	0.938835521695	0.93820	0.9212514961884668	0.92101	0.121385338241	0.13675	0.668998479843	0.62694	T	0.775173	0.94014	D	0.239967	0.77658	D	0.282767	0.87270	D	0.9943026304245	0.85516	D	0.953205	0.82144	D	0.8562103	0.87798	0.65593284	0.79855	0.8562103	0.87799	0.65593284	0.79855	-7.994	0.61030	D	0.3765634251142148	0.47148	0.266	0.50054	B	.;.	.;.	5.251072	0.88165	29.5	0.99812631636508942	0.89620	0.97905	0.78016	D	AEFDBI	0.961381	0.98259	D	0.653781618006422	0.76614	6.519113	0.572592785622157	0.72983	5.896472	0.999999999832432	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	7.417000	0.79365	6.020000	0.52779	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.0:1.0:0.0:0.0	17.471	0.87541	824	0.40336	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	33	chr2	43875162	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.3;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr2	43925942	43925942	C	T	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon26:c.G2756A:p.R919Q	Leigh syndrome, French-Canadian type, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1910402	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0457544903383	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs762844474	6.173e-06	6.157e-06	4.096e-06	8.269e-06	1.16e-05	2.9e-06	2.1e-06	2.63e-06	1.69e-06	0	0	0	0	0	0	6.315e-06	1.66e-05	1.16e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.024	0.47745	D	0.029	0.54541	D	1.0	0.90584	D	0.926	0.66095	D	0.000140	0.49741	D	0.128526	0.994601	0.42345	D	2.84	0.82582	M	1.79	0.25509	T	-2.67	0.57110	D	0.221	0.24758	-0.8541	0.51682	T	0.165	0.50225	T	10	0.36892486	0.53321	T	0.045754	0.62133	D	0.217	0.51112	0.636	0.77251	0.41883969893	0.41498	0.3929304136132955	0.39208	0.14486258664	0.16365	0.333058297634	0.15395	T	0.259532	0.63081	T	-0.10571	0.35479	T	-0.374135	0.36405	T	0.949603140354156	0.63151	D	0.934007	0.75281	D	0.16064732	0.36020	0.13204455	0.31695	0.16064732	0.36020	0.13204455	0.31695	-7.337	0.56458	T	0.4935313871032672	0.56998	0.128	0.27222	B	.	.	4.343217	0.66645	25.0	0.99939263358362851	0.99734	0.89833	0.50558	D	AEFDBI	0.274362	0.38956	N	0.604488432202182	0.73457	5.969359	0.535803736116001	0.70418	5.501995	0.999970332728702	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	2.371000	0.43902	7.709000	0.66702	0.549000	0.26987	0.967000	0.34061	1.000000	0.68203	0.656000	0.32857	0.0:0.9258:0.0:0.0741	14.190	0.65170	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	33	chr2	43925942	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=716;ExcessHet=0;FS=0.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.467;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	18	0	1	0
chr2	44280851	44280851	C	T	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon2:c.C566T:p.T189M	Cystinuria, Autosomal recessive, Autosomal dominant	10	1495	15	2	0	19	0.00631439	.	.	.	719883	Cystinuria|not_provided	Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.669249309455	0.0042	0.00119808	0.0026	0.0006	0.0026	0	0.0002	0.0039	0.0022	0.0015	0.0027037	418	154602	rs140317484	0.0039	0.0039	0.0038	0.0039	0.0081	0.0038	0.0038	0.0063	0.0056	0.0006	0.0023	0.0011	2.52e-05	0.0003	0.0081	0.0046	0.0031	0.0014	0.0029	0.0029	0.0030	0.0028	0.0048	0.0027	0.0026	0.0042	0.0041	0.0008	0.0011	0.0048	0.0003	0.0002	0.0002	0.0102	0.0047	0.0033	0.0008	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000002	0.62929	D	0.057373	1	0.81001	D	4.44	0.98786	H	-6.59	0.99734	D	-4.76	0.83625	D	0.753	0.76019	0.753	0.93827	D	0.990	0.99727	D	10	0.111916244	0.20973	T	0.669249	0.97238	D	0.968	0.99597	.	.	0.962578441827	0.96218	0.833905129635974	0.83349	0.0336267795191	0.03527	0.457308322191	0.32941	T	0.445912	0.99945	T	0.209523	0.74784	D	0.532194	0.95259	D	0.130563631088554	0.15434	T	0.973903	0.98076	D	0.83964694	0.86583	0.77218	0.86552	0.7815047	0.82748	0.7895046	0.87615	-10.176	0.75705	D	0.8433856664751872	0.91136	0.140	0.32054	B	.;.;.;.;.;.	.;.;.;.;.;.	5.116103	0.85548	28.6	0.99908951329891671	0.97875	0.97042	0.72354	D	AEFDBI	0.893492	0.83150	D	0.876648716003994	0.90571	10.464	0.742196447383394	0.85572	8.621012	0.999999722158397	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	5.501000	0.66665	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.101	0.89434	848	0.35897	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.005435	0.014620	0.000000	0.000000	0.006098	0.007576	0.02632	1001.33	38	chr2	44280851	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=717;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.407;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1429	18	0	1	0
chr2	44343945	44343945	T	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon4:c.A416G:p.N139S,PREPL:NM_001042386:exon4:c.A416G:p.N139S,PREPL:NM_001171613:exon4:c.A149G:p.N50S,PREPL:NM_001171617:exon4:c.A149G:p.N50S,PREPL:NM_001374277:exon4:c.A149G:p.N50S,PREPL:NM_006036:exon4:c.A416G:p.N139S,PREPL:NM_001171603:exon5:c.A416G:p.N139S,PREPL:NM_001171606:exon5:c.A416G:p.N139S,PREPL:NM_001374275:exon5:c.A416G:p.N139S,PREPL:NM_001374276:exon5:c.A416G:p.N139S	.	430	1090	2	0	0	2	0.00091659	.	.	.	518241	not_provided|PREPL-related_disorder|Myasthenic_syndrome,_congenital,_22	MedGen:C3661900|.|MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	0.00412292526536	0.0025	0.000199681	0.0028	0.0006	0.0007	0	0.0008	0.0047	0.0034	0.0001	0.0004398	68	154602	rs138555092	0.0024	0.0024	0.0024	0.0023	0.0038	0.0023	0.0023	0.0026	0.0024	0.0006	0.0008	0.0100	0	0.0013	0.0038	0.0025	0.0031	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0013	0.0012	0.0017	0.0016	0.0005	0.0055	0.0007	0.0089	0	0.0009	0.0034	0.0020	0.0009	0.0002	0.307	0.14159	T	0.556	0.12211	T	0.0	0.07471	B	0.001	0.12992	B	0.596725	0.10997	N	0.834058	0.999987	0.18878	N	0.345	0.11182	N	1.09	0.39223	T	-0.13	0.42957	N	0.063	0.04547	-1.0170	0.24690	T	0.044	0.18742	T	10	0.0030634105	0.00051	T	0.004123	0.09869	T	0.038	0.09825	.	.	0.143124449307	0.13826	0.14062476374069	0.13985	0.00548066125561	0.00480	0.255181491375	0.04334	T	0.015173	0.18622	T	-0.677117	0.00050	T	-0.747514	0.03583	T	0.00330174723611626	0.00035	T	0.737626	0.40554	T	0.016988471	0.00237	0.022017227	0.00236	0.019390598	0.00469	0.022566486	0.00279	-2.744	0.09621	T	0.13388803545867412	0.14412	0.066	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.740964	0.01229	0.062	0.87772938032960868	0.17471	0.06337	0.12335	N	AEFBI	0.057676	0.10764	N	-1.26476096307748	0.04108	0.1847762	-1.23775729273645	0.05315	0.2529345	0.960741922608	0.28509	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.6	-8.58	0.00780	-1.158000	0.03264	-5.567000	0.01672	-0.722000	0.03793	0.004000	0.16614	0.000000	0.08366	0.969000	0.54022	0.0935:0.5326:0.0:0.3739	11.738	0.51042	835	0.38313	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003528	0.000000	0.004076	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	979.33	37	chr2	44343945	.	T	C	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=690;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.381;SOR=1.056	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1221	18	0	1	0
chr2	45599504	45599504	G	A	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon4:c.C593T:p.P198L	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0056	0.00259585	0.0053	0.0010	0.0010	0	0.0118	0.0071	0.0055	0.0035	0.0048382	748	154602	rs147790397	0.0062	0.0062	0.0061	0.0062	0.0069	0.0061	0.0060	0.0067	0.0067	0.0008	0.0010	0.0076	2.519e-05	0.0094	0.0010	0.0069	0.0044	0.0039	0.0048	0.0048	0.0048	0.0047	0.0075	0.0045	0.0044	0.0069	0.0067	0.0007	0.0011	0.0011	0.0081	0.0002	0.0108	0.0034	0.0075	0.0019	0.0044	0.007	0.59928	D	0.166	0.30828	T	0.001	0.07471	B	0.002	0.06944	B	0.005114	0.33089	N	0.214512	1	0.08975	N	1.935	0.51832	L	1.85	0.24472	T	-1.92	0.44657	N	0.21	0.23380	-1.0370	0.18233	T	0.029	0.12585	T	10	0.0040596724	0.00079	T	.	.	.	0.055	0.15663	.	.	0.199424873507	0.19547	0.34430823728472876	0.34344	0.0131367131703	0.01263	0.361073434353	0.19541	T	0.003315	0.02718	T	-0.530612	0.00381	T	-0.528425	0.19443	T	0.0107957162507319	0.00153	T	0.812119	0.46368	T	0.053039797	0.09979	0.06995704	0.14804	0.053039797	0.09978	0.06995704	0.14804	-3.343	0.14298	T	.	.	0.069	0.03231	B	.	.	1.581587	0.20241	14.65	0.88742237979295013	0.18219	0.12972	0.17589	N	AEFDBI	0.046578	0.07750	N	-0.703603884921446	0.15920	0.8066236	-0.654035504183129	0.18115	0.9662884	0.981694922232912	0.30298	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.08	0.46880	1.357000	0.33694	1.526000	0.27126	0.618000	0.50648	0.494000	0.26909	0.292000	0.24171	0.720000	0.34772	0.1547:0.0:0.8453:0.0	10.341	0.43062	812	0.42537	.	.	.	.	.	rs147790397	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	2194.33	37	chr2	45599504	.	G	A	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=834;ExcessHet=0;FS=7.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.978;SOR=0.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr2	46369837	46369837	C	G	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon7:c.C790G:p.L264V	Erythrocytosis, familial, 4	0	1512	10	0	0	10	0.00329598	.	.	.	1816783	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0226182430945	.	.	5.824e-05	0	0	0	0	1.817e-05	0	0.0003	3.88e-05	6	154602	rs199738228	3.629e-05	3.694e-05	1.226e-05	6.059e-05	0.0006	2.831e-05	2.567e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0.0003	0	1.657e-05	0.0006	2.626e-05	2.624e-05	0	5.372e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.033	0.44358	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.77	0.45869	L	2.23	0.18083	T	-2.91	0.60982	D	0.811	0.80669	-1.1177	0.02482	T	0.072	0.29387	T	10	0.7183091	0.73493	D	0.022618	0.45526	T	0.296	0.61616	0.579	0.70476	0.490941945927	0.48727	0.4354340642456766	0.43460	0.617952798246	0.56210	0.668892264366	0.62679	T	0.452264	0.79266	T	-0.242952	0.14975	T	-0.256759	0.49146	T	0.471050143241882	0.31569	T	0.824517	0.48627	T	0.76149386	0.81541	0.43985766	0.67324	0.76149386	0.81543	0.43985766	0.67325	-8.47	0.64230	D	.	.	0.473	0.63329	A	.	.	3.726596	0.53285	23.3	0.9981355455049471	0.89708	0.93353	0.57990	D	AEFBCI	0.678826	0.64306	D	0.410977102389036	0.62025	4.411897	0.395222154906324	0.61268	4.324765	0.928123217823022	0.26916	0.706548	0.73137	0	0.547309	0.14657	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.65	3.53	0.39533	0.520000	0.22586	1.801000	0.28882	0.594000	0.32500	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.6708:0.0:0.3292	8.923	0.34783	892	0.26670	PAS fold-3|PAS domain|PAS domain|PAS domain|PAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2385.33	34	chr2	46369837	.	C	G	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.267;DP=859;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.355;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	46480673	46480673	-	GCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA	exonic	TMEM247	.	nonframeshift insertion	TMEM247:NM_001145051:exon2:c.386_387insGCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA:p.V133_V134insAMEQLQREQQHEV	.	416	1056	38	3	9	53	0.0204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0016	0.0026	0.0019	0.0027	0.0075	0.0044	0.0014	0.0004995	13	26028	rs775332040	0.0063	0.0061	0.0064	0.0062	0.0072	0.0062	0.0062	0.0071	0.0070	0.0014	0.0061	0.0041	2.841e-05	0.0039	0.0035	0.0072	0.0066	0.0012	0.0069	0.0069	0.0077	0.0061	0.0104	0.0065	0.0064	0.0098	0.0095	0.0020	0.0465	0.0099	0.0026	0	0.0027	0.0034	0.0104	0.0081	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3864.47	33	chr2	46480673	.	G	GGCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA	3864.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.823;DP=1175;ExcessHet=0.3672;FS=1.693;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=18.32;ReadPosRankSum=-1.039;SOR=0.592	GT:AD:DP:GQ:PL	0/0:26,0:57:99:1016,1104,2182	18	0	1	0
chr2	46615095	46615095	C	T	exonic	PIGF	.	nonsynonymous SNV	PIGF:NM_002643:exon2:c.G70A:p.V24I,PIGF:NM_173074:exon2:c.G70A:p.V24I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00176046466528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.977e-07	1.368e-06	0	1.399e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.622	0.09209	T	0.405	0.14771	T	0.0	0.07471	B	0.001	0.08700	B	0.193991	0.16772	N	0.641780	1	0.08975	N	-0.22	0.03977	N	.	.	.	0.06	0.14588	N	0.045	0.01825	-0.9920	0.32089	T	0.030	0.13023	T	9	0.058507502	0.06888	T	0.00176	0.02986	T	0.034	0.08419	0.415	0.45380	0.204665344411	0.20097	0.24070936471381188	0.23984	0.00656919236779	0.00574	0.251054406166	0.03879	T	0.034187	0.23222	T	-0.285695	0.10073	T	-0.648158	0.09083	T	0.0602534450590611	0.07209	T	0.693931	0.30359	T	0.023133699	0.01028	0.027592905	0.00923	0.023133699	0.01028	0.027592905	0.00923	-3.041	0.10629	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	0.943792	0.13196	9.697	0.80299316921037001	0.13137	0.04246	0.09772	N	AEFDGBHI	0.032226	0.03598	N	-0.673948708515903	0.16765	0.857109	-0.460832988067896	0.23242	1.266476	0.999992846264113	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.28	2.72	0.31179	0.801000	0.26716	0.154000	0.15327	0.599000	0.40250	0.893000	0.31264	0.985000	0.30750	0.997000	0.79791	0.0:0.371:0.0:0.629	8.209	0.30631	762	0.50290	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	33	chr2	46615095	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.395;DP=700;ExcessHet=0;FS=4.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.836;SOR=0.348	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr2	46917239	46917239	C	T	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288953:exon2:c.C44T:p.S15F	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	437	1082	3	0	0	3	0.0013844	.	.	.	2476795	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0019755591959	.	0.000798722	0.0047	0	0	0	0	0	0	0.0079	0.0004075	63	154602	rs555979766	0.0009	0.0008	0.0005	0.0013	0.0065	0.0009	0.0008	0.0060	0.0058	0	0.0001	0	0	6.008e-05	0.0005	0.0002	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0062	0.048	0.40068	D	0.399	0.15059	T	0.011	0.15914	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.25018	T	-0.55	0.16799	N	0.295	0.33360	-1.0132	0.25912	T	0.042	0.18035	T	7	0.0037568212	0.00070	T	0.001976	0.03535	T	0.028	0.06331	0.205	0.12076	0.260249123532	0.25628	.	.	.	.	.	.	.	.	.	.	-0.628013	0.00098	T	-0.672123	0.07473	T	0.0182769970305211	0.00546	T	0.490951	0.15096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	1.016781	0.13959	10.52	0.96153592390488918	0.28875	0.01026	0.03852	N	AEFBI	0.037318	0.05114	N	-0.993324690734008	0.08746	0.4112518	-1.14309657736267	0.06892	0.3333502	0.999404639576694	0.39524	0.559995	0.30671	0	0.475579	0.06741	0	0.507148	0.09336	0	0.550183	0.17644	0	.	.	0.235	0.235	0.14697	0.492000	0.22144	-1.685000	0.04918	0.333000	0.19617	0.019000	0.19563	0.000000	0.08366	0.039000	0.14166	.	.	.	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	808.33	52	chr2	46917239	.	C	T	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.61;DP=765;ExcessHet=0;FS=0.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.294;SOR=0.916	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr2	47151473	47151473	C	T	exonic	STPG4	.	nonsynonymous SNV	STPG4:NM_001163561:exon3:c.G184A:p.E62K,STPG4:NM_173649:exon3:c.G184A:p.E62K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.020389935043	.	.	8.243e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs375315225	8.21e-06	8.209e-06	9.531e-06	6.876e-06	0.0002	4.38e-06	3.46e-06	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0.0002	0	8.281e-05	3.478e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48186	D	0.024	0.59732	D	0.987	0.61912	D	0.747	0.55931	P	0.002320	0.36806	N	0.121832	0.671087	0.30364	N	.	.	.	1.29	0.35775	T	-2.39	0.53096	N	0.604	0.66959	-0.7906	0.55694	T	0.142	0.46349	T	10	0.63744795	0.68863	D	0.02039	0.42975	T	0.177	0.44549	0.505	0.59924	0.47558534428	0.47187	0.492818859971522	0.49202	0.124861937674	0.14065	.	.	.	0.102414	0.41010	T	-0.166865	0.25710	T	-0.251764	0.49643	T	0.715616166591644	0.41478	D	0.844016	0.52137	T	0.44771594	0.63896	0.4527468	0.68168	0.44771594	0.63897	0.4527468	0.68168	-9.536	0.71082	D	.	.	0.332	0.59788	B	.;.	.;.	4.531967	0.71148	25.6	0.99902446105359644	0.97426	0.77097	0.37870	D	AEFBI	0.189943	0.31718	N	0.434818603768807	0.63347	4.566733	0.410209620829303	0.62200	4.431518	0.932400122260707	0.27087	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.12	3.11	0.34883	1.339000	0.33489	4.790000	0.44894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.6936:0.3064:0.0	12.899	0.57508	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1607.33	33	chr2	47151473	.	C	T	1607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.613;DP=767;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.244;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	18	0	1	0
chr2	47369504	47369510	GCATGGC	-	exonic	EPCAM	.	startloss	EPCAM:NM_002354:exon1:c.1_5del:p.M1?	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.191e-07	6.84e-07	0	1.456e-06	1.277e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.277e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2128.77	16	chr2	47369503	.	AGCATGGC	A	2128.77	.	AC=2;AF=0.053;AN=38;DP=642;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.47;SOR=2.03	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	18	1	0	0
chr2	47379942	47379942	A	G	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon7:c.A831G:p.I277M	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	1	1494	27	0	0	27	0.00895522	.	.	.	133308	Hereditary_cancer-predisposing_syndrome|EPCAM-related_disorder|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0330641448387	0.0018	0.000798722	0.0023	0.0007	0.0021	0.0001	0.0013	0.0028	0.0024	0.0032	0.0018758	290	154602	rs115283528	0.0017	0.0017	0.0016	0.0018	0.0203	0.0016	0.0016	0.0173	0.0162	0.0008	0.0018	0.0087	2.52e-05	0.0021	0.0203	0.0013	0.0029	0.0031	0.0015	0.0015	0.0013	0.0016	0.0023	0.0013	0.0012	0.0013	0.0012	0.0004	0	0.0013	0.0089	0	0.0019	0.0442	0.0015	0.0033	0.0023	0.017	0.51248	D	0.008	0.69154	D	0.744	0.43069	P	0.23	0.38212	B	0.095263	0.20132	N	0.561927	0.974431	0.26319	N	1.87	0.49600	L	-0.73	0.73100	T	-0.59	0.17624	N	0.411	0.45142	-0.8956	0.48427	T	0.157	0.48858	T	10	0.00895828	0.00203	T	0.033064	0.54719	D	0.127	0.34888	.	.	0.608920829255	0.60578	0.30863277506753106	0.30776	0.0225156976006	0.02270	0.322267889977	0.13764	T	0.043546	0.71266	T	-0.396175	0.02452	T	-0.346469	0.39609	T	0.0334976814454722	0.02553	T	0.832417	0.50060	T	0.04547569	0.07452	0.05144522	0.08279	0.047041897	0.07974	0.052679587	0.08724	-7.486	0.57512	T	0.11134327674242744	0.09510	0.120	0.24666	B	.;.	.;.	1.650257	0.21054	15.03	0.97568116696703333	0.34664	0.73255	0.35835	D	AEFBI	0.156726	0.28213	N	-0.375635278500224	0.26339	1.436784	-0.409902969695779	0.24706	1.354463	7.77684535278468E-4	0.07793	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.4	-0.506	0.11391	1.082000	0.30415	0.635000	0.20265	0.756000	0.94297	1.000000	0.71638	0.948000	0.28948	0.259000	0.23493	0.4028:0.2938:0.1596:0.1438	1.214	0.01794	868	0.31772	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017623	0.025253	0.025815	0.023392	0.000000	0.008621	0.009146	0.007576	0.02632	621.33	65	chr2	47379942	.	A	G	621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.073;SOR=0.737	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	47521602	47521602	G	A	exonic	KCNK12	.	nonsynonymous SNV	KCNK12:NM_022055:exon2:c.C598T:p.L200F	.	418	1089	13	2	0	17	0.00774487	.	.	.	2743853	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00789649830827	0.0013	0.000998403	0.0042	0.0013	0.0063	0.0007	0.0031	0.0054	0.0059	0.0040	0.0014295	221	154602	rs200300645	0.0015	0.0015	0.0015	0.0016	0.0127	0.0015	0.0015	0.0103	0.0095	0.0008	0.0022	0.0095	2.666e-05	0.0022	0.0127	0.0011	0.0028	0.0030	0.0015	0.0015	0.0014	0.0016	0.0021	0.0013	0.0013	0.0012	0.0011	0.0007	0	0.0014	0.0092	0	0.0019	0.0442	0.0014	0.0043	0.0021	0.066	0.36113	T	0.05	0.48080	T	0.294	0.32391	B	0.174	0.35540	B	0.610702	0.10869	U	0.810288	0.843717	0.28595	N	0.695	0.17993	N	2.42	0.15376	T	-0.78	0.21644	N	0.027	0.00571	-1.0081	0.27510	T	0.023	0.09650	T	10	0.0046395063	0.00097	T	0.007896	0.20955	T	0.035	0.08770	.	.	0.102598925029	0.09809	0.6752524843428158	0.67463	1.88089738843	0.92596	0.552733778954	0.46243	T	0.054211	0.29661	T	-0.638529	0.00085	T	-0.694595	0.06126	T	0.00454185760674965	0.00048	T	0.711729	0.32279	T	0.060103748	0.12295	0.08195359	0.18668	0.060103748	0.12295	0.08195359	0.18667	-6.939	0.53588	T	.	.	0.103	0.18539	B	.	.	2.553711	0.33055	19.23	0.97334824037469136	0.33442	0.23911	0.22227	N	ALL	0.299254	0.40836	N	-0.432187918253378	0.24349	1.314052	-0.360911018509541	0.26173	1.44397	0.99999999992317	0.74766	0.695654	0.57023	0	0.218748	0.04544	0	0.723109	0.80598	0	0.618803	0.45993	0	.	.	4.06	2.2	0.26966	0.479000	0.21938	6.089000	0.53426	0.658000	0.54486	0.130000	0.23345	1.000000	0.68203	0.991000	0.66497	0.1793:0.245:0.3663:0.2093	1.210	0.01786	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015720	0.015789	0.021798	0.029412	0.000000	0.000000	0.003106	0.007576	0.02632	1430.33	101	chr2	47521602	.	G	A	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=788;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.876;SOR=0.825	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1336	18	0	1	0
chr2	47799746	47799746	A	G	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A1373G:p.H458R,MSH6:NM_001281493:exon3:c.A857G:p.H286R,MSH6:NM_000179:exon4:c.A1763G:p.H588R,MSH6:NM_001281494:exon4:c.A857G:p.H286R	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	182080	Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_5|Endometrial_carcinoma|not_provided|Mismatch_repair_cancer_syndrome_3|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MedGen:C3661900|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|MeSH:D003123,MedGen:C0009405	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.872	0.115947713134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786202725	3.215e-05	3.215e-05	4.492e-05	1.925e-05	4.047e-05	2.478e-05	2.22e-05	3.085e-05	2.753e-05	0	0	0	0	0	0	4.047e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.39097	T	0.12	0.37730	T	0.771	0.43934	P	0.449	0.46066	P	0.000001	0.62929	D	0.098035	1	0.81001	D	3.23	0.89537	M	-2.03	0.85613	D	-4.96	0.85027	D	0.876	0.92550	0.244	0.86643	D	0.611	0.86246	D	10	0.8728316	0.86558	D	0.115948	0.79528	D	0.872	0.96170	0.547	0.66156	0.894629328705	0.89358	0.76952613567449	0.76901	.	.	0.672458648682	0.63188	T	0.834048	0.96066	D	0.429812	0.91522	D	0.379619	0.91417	D	0.98840606212616	0.78739	D	0.947205	0.79983	D	0.8481024	0.87196	0.66364753	0.80283	0.8481024	0.87197	0.66364753	0.80284	-9.118	0.68472	D	0.3392007059267185	0.43702	0.203	0.53480	B	.;.;.;.;.	.;.;.;.;.	3.720188	0.53157	23.3	0.99545296056206545	0.70773	0.99104	0.91284	D	AEFBCI	0.918408	0.88743	D	0.5778617530878	0.71794	5.705452	0.615667157578967	0.76075	6.425115	0.999999999967214	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	5.25	0.73169	9.255000	0.94710	11.247000	0.90615	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.160	0.72452	904	0.23766	.;.;DNA mismatch repair protein MutS, connector domain;DNA mismatch repair protein MutS, connector domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1627.33	123	chr2	47799746	.	A	G	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.86;DP=871;ExcessHet=0;FS=0.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.11;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	18	0	1	0
chr2	47905515	47905515	T	G	exonic	FBXO11	.	nonsynonymous SNV	FBXO11:NM_001190274:exon1:c.A206C:p.Q69P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0587684685251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.847e-06	1.368e-06	0	3.848e-06	2.166e-06	3.1e-07	1.2e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.166e-06	0	0	6.617e-06	6.575e-06	0	1.354e-05	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.313	0.13879	T	0.355	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	0.82	0.48142	T	-0.42	0.14193	N	0.403	0.44379	-1.0943	0.04854	T	0.059	0.24760	T	7	0.14366207	0.27272	T	0.058768	0.67431	D	0.142	0.37995	0.233	0.16155	0.438144244647	0.43432	0.1277951998195003	0.12705	0.454471116637	0.45140	0.838419854641	0.87853	D	0.06598	0.32826	T	-0.00437789	0.51050	T	-0.244065	0.50400	T	0.218983114378409	0.21413	T	0.378962	0.09121	T	0.16107403	0.36092	0.2811677	0.54096	0.16107403	0.36091	0.2811677	0.54095	-2.579	0.06345	T	.	.	0.049	0.00117	B	.	.	2.860085	0.37787	20.6	0.9161953772289485	0.20904	0.13315	0.17786	N	AEFDGBHCI	0.166968	0.29360	N	-0.230397304829005	0.31892	1.792922	-0.167364290113835	0.32744	1.866042	0.99999998286376	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	2.63	2.63	0.30420	1.213000	0.32011	2.563000	0.33324	0.494000	0.22454	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	6.808	0.22970	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	109.34	17	chr2	47905515	.	T	G	109.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.664;DP=399;ExcessHet=0;FS=2.241;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.485;SOR=0.223	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,406	18	0	1	0
chr2	47905538	47905538	-	GGCGGC	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.182_183insGCCGCC:p.P66_L67insPP	.	.	.	.	.	.	.	.	.	.	.	1505931	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923188952	2.764e-06	2.053e-06	3.542e-06	1.921e-06	0.0001	7.4e-07	2e-07	3.6e-07	1.4e-07	0	0.0001	0	0	0	0	2.163e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1084.78	20	chr2	47905538	.	T	TGGCGGC	1084.78	.	AC=2;AF=0.053;AN=38;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=0.9959;MLEAC=2;MLEAF=0.053;MQ=60;QD=26.01;SOR=1.697	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,574	18	1	0	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del	.	419	1077	19	0	7	26	0.00874367	.	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	85.29	21	chr2	47905551	.	GGCT	G	85.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.707;DP=549;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-2.312;SOR=0.336	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,714	18	0	1	0
chr2	48479951	48479951	C	T	exonic	PPP1R21	.	nonsynonymous SNV	PPP1R21:NM_001135629:exon13:c.C1253T:p.T418I,PPP1R21:NM_001193475:exon13:c.C1253T:p.T418I,PPP1R21:NM_152994:exon13:c.C1253T:p.T418I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00359636974763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.128	0.36233	T	0.773	0.44016	P	0.165	0.35299	B	0.027577	0.25736	N	0.442434	0.663311	0.30429	N	1.59	0.40313	L	.	.	.	-0.66	0.19085	N	0.612	0.66873	-0.9499	0.40989	T	0.088	0.34133	T	9	0.4482569	0.58534	T	0.003596	0.08216	T	0.059	0.16972	0.588	0.71623	0.344945010812	0.34105	0.40029729735461456	0.39944	0.016044927882	0.01538	0.502808570862	0.39219	T	0.033299	0.22856	T	-0.0792343	0.39838	T	-0.351591	0.39022	T	0.575351997024156	0.35440	D	0.89751	0.64163	D	0.1166079	0.27500	0.12516841	0.30162	0.1166079	0.27500	0.12516841	0.30162	-4.005	0.25423	T	.	.	0.150	0.39271	B	.;.;.	.;.;.	3.021204	0.40437	21.2	0.99843491362085812	0.92403	0.81408	0.40818	D	AEFGBCI	0.153586	0.27847	N	0.196853538183113	0.51047	3.289271	0.328588808232513	0.57227	3.887599	0.999998625600317	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	3.120000	0.50123	4.052000	0.41516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8575:0.1425:0.0	14.956	0.70760	659	0.61982	.;.;Uncharacterised domain KLRAQ/TTKRSYEDQ, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2116.33	190	chr2	48479951	.	C	T	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=843;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.343;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V,STON1-GTF2A1L:NM_001198593:exon2:c.G353T:p.G118V,STON1:NM_006873:exon2:c.G353T:p.G118V,STON1-GTF2A1L:NM_172311:exon2:c.G353T:p.G118V,STON1:NM_001198595:exon3:c.G353T:p.G118V	.	432	1026	62	2	0	66	0.0311615	.	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020725	0.005051	0.025815	0.020979	0.100000	0.034483	0.006098	0.030303	0.05263	6276.83	34	chr2	48580986	.	G	T	6276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.492;DP=2064;ExcessHet=0.119;FS=5.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.193;SOR=1.071	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	17	0	2	0
chr2	53716666	53716666	C	T	exonic	ASB3;GPR75-ASB3	.	nonsynonymous SNV	ASB3:NM_001201965:exon5:c.G463A:p.V155M,ASB3:NM_145863:exon5:c.G463A:p.V155M,GPR75-ASB3:NM_001164165:exon6:c.G796A:p.V266M,ASB3:NM_016115:exon6:c.G682A:p.V228M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0952391688918	0.0035	.	0.0022	0.0002	0.0004	0	0.0002	0.0039	0.0011	6.057e-05	0.0023415	362	154602	rs140678678	0.0035	0.0035	0.0034	0.0035	0.0040	0.0034	0.0033	0.0039	0.0039	0.0006	0.0005	0.0095	0	0.0008	0.0007	0.0040	0.0034	0.0001	0.0025	0.0025	0.0026	0.0023	0.0041	0.0023	0.0022	0.0037	0.0036	0.0007	0.0066	0.0009	0.0112	0	0.0006	0	0.0041	0.0014	0	0.001	0.78490	D	0.005	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	.	.	.	1.73	0.44655	L	-0.37	0.68892	T	-2.5	0.54702	D	0.682	0.68863	0.022	0.82686	D	0.440	0.77871	T	9	0.023719639	0.00629	T	0.095239	0.76394	D	0.527	0.80007	.	.	0.837760505905	0.83621	0.6577762979730166	0.65714	0.348436115935	0.36714	0.609840989113	0.54293	T	0.097617	0.40061	T	-0.146198	0.28908	T	0.0181729	0.71512	D	0.0534397973199831	0.06095	T	0.960604	0.85735	D	0.5768021	0.71433	0.5413359	0.73491	0.5768021	0.71434	0.5413359	0.73492	-9.666	0.71888	D	.	.	0.237	0.47094	B	.;.;.;.	.;.;.;.	4.883983	0.80130	27.3	0.99875033916598732	0.95244	0.95967	0.66935	D	AEFBI	0.562492	0.57006	D	0.774886778807782	0.84511	8.308699	0.731920936141584	0.84800	8.394762	0.983894998131199	0.30631	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	4.396000	0.59445	5.921000	0.51166	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.231	0.93826	923	0.18507	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002591	0.000000	0.000000	0.000000	0.050000	0.008621	0.003049	0.000000	0.05263	4110.81	33	chr2	53716666	.	C	T	4110.81	.	AC=2;AF=0.053;AN=38;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.23;SOR=0.753	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1325	18	1	0	0
chr2	53813024	53813024	A	C	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127398:exon10:c.A1015C:p.N339H,ERLEC1:NM_001127397:exon11:c.A1177C:p.N393H,ERLEC1:NM_015701:exon11:c.A1177C:p.N393H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0826024780415	0.0009	0.000199681	0.0012	0.0003	0.0007	0	0	0.0018	0	0.0010	0.0012225	189	154602	rs139630231	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0001	0.0005	0	0	0.0002	0.0009	0.0020	0.0011	0.0008	0.0009	0.0009	0.0011	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0.0077	0.0004	0	0	9.414e-05	0	0.0016	0	0.0008	0.249	0.28271	T	0.156	0.31833	T	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.46	0.71463	M	3.8	0.48769	T	-1.95	0.47175	N	0.8	0.84817	-0.4321	0.70998	T	0.280	0.65189	T	9	0.10999063	0.20540	T	0.082602	0.73936	D	0.175	0.44197	.	.	0.531342499125	0.52783	0.7136145514444947	0.71304	0.619018765651	0.56272	0.638254642487	0.58315	T	0.22811	0.59357	T	-0.25062	0.14021	T	-0.138632	0.60236	T	0.0541893295129363	0.06222	T	0.947605	0.79780	D	0.2852898	0.51551	0.26691777	0.52543	0.2852898	0.51550	0.26691777	0.52542	-3.916	0.63377	T	.	.	0.150	0.33249	B	.;.;.	.;.;.	4.223946	0.63913	24.6	0.99126054744599512	0.53116	0.95996	0.67064	D	AEFBCI	0.896859	0.83839	D	0.603790936126484	0.73412	5.962233	0.665339639922427	0.79759	7.150421	0.999994021826585	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	8.736000	0.91258	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.395	0.83423	911	0.21964	.;Protein OS9-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3108.83	37	chr2	53813024	.	A	C	3108.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.06;DP=887;ExcessHet=0.119;FS=1.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.35;SOR=0.831	GT:AD:DP:GQ:PL	0/1:94,71:165:99:1729,0,2272	17	0	2	0
chr2	54827702	54827702	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon5:c.A662G:p.Y221C	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0201103579475	0.0011	0.000199681	0.0018	0	0	0	0.0025	0.0031	0	0.0010	0.0005498	85	154602	rs191679730	0.0020	0.0019	0.0020	0.0020	0.0023	0.0019	0.0019	0.0022	0.0022	0.0004	0.0008	0.0015	0	0.0029	0.0004	0.0023	0.0014	0.0008	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0026	0.0024	0.0005	0	0.0003	0.0012	0	0.0034	0	0.0029	0.0005	0.0008	0.041	0.41915	D	0.022	0.57587	D	1.0	0.90584	D	0.968	0.71741	D	0.663640	0.10405	U	0.613969	0.999988	0.54805	D	2.27	0.64531	M	1.75	0.26152	T	-6.24	0.90530	D	0.843	0.83885	-0.9992	0.30143	T	0.174	0.51737	T	10	0.10374683	0.19089	T	0.02011	0.42635	T	0.410	0.72176	.	.	0.53371040847	0.53021	0.6910964588528513	0.69049	0.535229922184	0.50900	0.811780750751	0.83765	D	0.225954	0.59084	T	-0.116623	0.33678	T	0.057913	0.74106	D	0.0596599477577806	0.07115	T	0.973003	0.90263	D	0.42668325	0.62535	0.447736	0.67843	0.42668325	0.62535	0.447736	0.67843	-10.06	0.74270	D	.	.	0.826	0.78526	P	.	.	5.035991	0.83793	28.1	0.99844460569694649	0.92489	0.98657	0.85222	D	AEFBI	0.918621	0.88794	D	0.808020936917449	0.86604	8.939369	0.803946858103094	0.90065	10.24151	0.99999943016181	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.79	5.79	0.91751	8.947000	0.92735	9.375000	0.80475	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.120	0.81152	378	0.83833	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1393.33	36	chr2	54827702	.	A	G	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.114;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.786;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	54950761	54950761	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon29:c.G4195A:p.V1399I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00707992935952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255637169	7.148e-06	6.84e-06	7.052e-06	7.246e-06	8.342e-06	3.61e-06	2.64e-06	3.93e-06	2.84e-06	0	0	0	0	0	0	8.342e-06	1.724e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.123	0.27544	T	0.168	0.30631	T	0.059	0.23051	B	0.055	0.25995	B	.	.	.	.	0.999999	0.08975	N	1.17	0.29769	L	1.48	0.31731	T	-0.15	0.09297	N	0.152	0.15609	-1.0295	0.20616	T	0.059	0.24797	T	9	0.11238435	0.21077	T	0.00708	0.18759	T	0.022	0.04323	.	.	0.230578612272	0.22657	0.12045167175263102	0.11972	0.200203842647	0.22421	0.474930226803	0.35359	T	0.014637	0.12421	T	-0.305046	0.08192	T	-0.675954	0.07232	T	0.137100322182573	0.16023	T	0.844715	0.52235	T	0.03149752	0.03000	0.06543063	0.13260	0.03149752	0.03000	0.06543063	0.13259	-3.406	0.15137	T	.	.	0.066	0.02173	B	.	.	2.107759	0.26822	17.25	0.95257962344063885	0.26522	0.62674	0.31853	D	AEFBCI	0.123396	0.23898	N	-0.484242450693389	0.22596	1.20769	-0.40933424672475	0.24723	1.355453	0.999947125433624	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.97	4.17	0.48303	2.340000	0.43631	4.883000	0.45686	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.186000	0.21481	0.0679:0.2705:0.6615:0.0	10.285	0.42741	525	0.74024	HELP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	34	chr2	54950761	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.06;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1484	18	0	1	0
chr2	54960267	54960267	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon34:c.G4901A:p.R1634H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.032243584135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183166949	7.861e-06	7.524e-06	8.461e-06	7.245e-06	0.0002	4.22e-06	3.08e-06	7.314e-05	4.944e-05	0	0.0002	0	2.798e-05	0	0	2.781e-06	0	1.262e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.011	0.55530	D	0.005	0.72224	D	1.0	0.90584	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.82	0.47800	L	1.19	0.37578	T	-3.14	0.64019	D	0.604	0.62188	-0.7524	0.57810	T	0.207	0.56594	T	10	0.58954036	0.66302	D	0.032244	0.54125	D	0.408	0.72022	0.403	0.43408	0.757359631849	0.75515	0.37321193101493927	0.37235	0.741070227318	0.63271	0.862341463566	0.91456	D	0.190782	0.54543	T	-0.0775959	0.40105	T	-0.112569	0.62406	T	0.87821638584137	0.52814	D	0.972478	0.90093	D	0.41358635	0.61662	0.2745263	0.53381	0.41358635	0.61663	0.2745263	0.53380	-13.827	0.92481	D	.	.	0.927	0.84804	P	.	.	5.423105	0.90721	31	0.99954867025280936	0.99969	0.98536	0.83832	D	AEFDBI	0.926487	0.90768	D	0.790318726713047	0.85494	8.593285	0.778388764799953	0.88255	9.51351	0.999999999999998	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.08	5.08	0.68373	9.602000	0.97623	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.823	0.92072	544	0.72685	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	41	chr2	54960267	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=842;ExcessHet=0;FS=4.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.05;SOR=1.036	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1248	18	0	1	0
chr2	55025659	55025659	G	T	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.C1822A:p.L608M,RTN4:NM_001321860:exon3:c.C1822A:p.L608M,RTN4:NM_001321861:exon3:c.C1822A:p.L608M,RTN4:NM_001321862:exon3:c.C1822A:p.L608M,RTN4:NM_001321863:exon3:c.C1822A:p.L608M,RTN4:NM_020532:exon3:c.C2440A:p.L814M,RTN4:NM_207521:exon3:c.C1822A:p.L608M,RTN4:NM_001321904:exon4:c.C1822A:p.L608M	.	431	1076	13	2	0	17	0.00783771	.	.	.	697606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.084	.	0.0061	0.00379393	0.0054	0.0010	0.0028	0	0.0020	0.0082	0.0055	0.0025	0.0055756	862	154602	rs80121116	0.0079	0.0079	0.0081	0.0078	0.0091	0.0078	0.0078	0.0089	0.0089	0.0009	0.0036	0.0186	0	0.0023	0.0057	0.0091	0.0075	0.0025	0.0056	0.0056	0.0057	0.0055	0.0086	0.0053	0.0051	0.0081	0.0078	0.0016	0.0011	0.0047	0.0239	0	0.0020	0.0034	0.0086	0.0057	0.0010	0.039	0.45393	D	0.122	0.36365	T	0.855	0.47121	P	0.459	0.46380	P	0.000677	0.00662	N	3.669530	1	0.08975	N	2.25	0.63811	M	2.2	0.18724	T	-0.08	0.08187	N	0.205	0.23758	-0.9536	0.40345	T	0.047	0.20275	T	10	0.0038111806	0.00072	T	.	.	.	0.084	0.24469	.	.	0.171388866994	0.16791	0.07742202268788945	0.07678	0.121087646277	0.13643	0.242997542024	0.03067	T	0.200326	0.55787	T	-0.554311	0.00275	T	-0.562325	0.16159	T	0.0115987356139833	0.00176	T	0.582242	0.21661	T	0.06344893	0.13360	0.050419915	0.07911	0.06344893	0.13359	0.050419915	0.07910	-5.777	0.44373	T	.	.	0.09	0.15070	B	.;.;.;.;.	.;.;.;.;.	0.225672	0.06073	2.518	0.89292706127827759	0.18673	0.10869	0.16249	N	AEFBCI	0.096377	0.19456	N	-0.713090422477892	0.15654	0.7907477	-0.911291229989815	0.11827	0.604934	0.999759432413961	0.42595	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	-2.7	0.05651	-0.139000	0.10338	-0.721000	0.07705	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.1916:0.3586:0.4498:0.0	8.820	0.34182	625	0.65529	.;.;.;.;.	.	.	.	.	rs80121116	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.005435	0.005848	0.000000	0.000000	0.021341	0.007576	0.02632	1478.33	34	chr2	55025659	.	G	T	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=0.046;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	18	0	1	0
chr2	55025668	55025668	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A1813G:p.K605E,RTN4:NM_001321860:exon3:c.A1813G:p.K605E,RTN4:NM_001321861:exon3:c.A1813G:p.K605E,RTN4:NM_001321862:exon3:c.A1813G:p.K605E,RTN4:NM_001321863:exon3:c.A1813G:p.K605E,RTN4:NM_020532:exon3:c.A2431G:p.K811E,RTN4:NM_207521:exon3:c.A1813G:p.K605E,RTN4:NM_001321904:exon4:c.A1813G:p.K605E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00684201210084	.	.	8.271e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs750533154	4.105e-06	4.104e-06	2.723e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	2.52e-05	0	0.0002	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.07	0.43721	T	0.952	0.54136	P	0.452	0.46163	P	0.012651	0.29101	N	0.241247	0.539053	0.32039	D	2.565	0.75005	M	1.77	0.26152	T	-1.09	0.29114	N	0.093	0.08786	-1.0502	0.14341	T	0.066	0.27260	T	10	0.10158855	0.18570	T	0.006842	0.18093	T	0.043	0.11576	0.207	0.12356	0.288352970974	0.28455	0.2596687052663438	0.25880	0.0358732820116	0.03783	0.28581058979	0.08316	T	0.203948	0.56257	T	-0.170728	0.25123	T	-0.483016	0.24127	T	0.575286746025085	0.35438	D	0.615039	0.23774	T	0.21724649	0.44204	0.18256006	0.41191	0.21724649	0.44204	0.18256006	0.41190	-3.183	0.12274	T	.	.	0.074	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.785963	0.22706	15.73	0.99475370405568742	0.66579	0.49238	0.28388	N	AEFBCI	0.114273	0.22514	N	-0.0917061216936896	0.37754	2.201205	-0.200668375321246	0.31512	1.784118	0.999667079545915	0.41534	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	1.56	0.22423	0.275000	0.18461	0.154000	0.15327	0.665000	0.62972	0.748000	0.29111	0.185000	0.23452	0.940000	0.48062	0.0:0.1363:0.1313:0.7324	6.450	0.21100	625	0.65529	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1918.33	34	chr2	55025668	.	T	C	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.444;DP=835;ExcessHet=0;FS=3.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.043;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	18	0	1	0
chr2	55049789	55049789	G	A	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_020532:exon1:c.C512T:p.S171F,RTN4:NM_153828:exon1:c.C512T:p.S171F,RTN4:NM_207520:exon1:c.C512T:p.S171F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.187073180636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.971	0.57185	D	0.543	0.48966	P	0.506851	0.11887	N	0.714690	0.986319	0.40413	D	0.895	0.22405	L	1.09	0.39223	T	-1.23	0.39503	N	0.333	0.39659	-1.0069	0.27881	T	0.100	0.37060	T	10	0.23342708	0.40360	T	0.187073	0.85916	D	0.113	0.31778	0.225	0.14960	0.487843537783	0.48417	0.08361803799500017	0.08295	0.0922585899238	0.10416	0.931985735893	0.99096	D	0.109177	0.42282	T	-0.055513	0.43605	T	-0.317517	0.42848	T	0.899812877178192	0.55220	D	0.806319	0.45525	T	0.23745282	0.46609	0.30682072	0.56706	0.23745282	0.46609	0.30682072	0.56705	-6.565	0.61648	T	.	.	0.418	0.60555	A	.;.;.;.	.;.;.;.	4.746216	0.76591	26.5	0.98809797968465585	0.46590	0.43260	0.27059	N	ALL	0.213706	0.33926	N	-0.00750640178098397	0.41515	2.484565	-0.04621071824906	0.37654	2.207658	0.999999999673056	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.47	3.47	0.38831	3.422000	0.52509	7.926000	0.74773	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	10.613	0.44627	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	210.33	15	chr2	55049789	.	G	A	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-1.641;SOR=0.49	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	18	0	1	0
chr2	55049888	55049888	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_020532:exon1:c.A413G:p.E138G,RTN4:NM_153828:exon1:c.A413G:p.E138G,RTN4:NM_207520:exon1:c.A413G:p.E138G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.221786192781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.567e-06	3.42e-06	3.295e-06	1.78e-06	3.088e-06	6.8e-07	1.9e-07	8.2e-07	2.3e-07	0	0	0	0	0	0	3.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.027	0.55341	D	0.221	0.30336	B	0.133	0.33073	B	0.700890	0.06202	N	1.234340	0.897288	0.81001	D	0.805	0.20218	L	1.01	0.41058	T	-0.89	0.43524	N	0.339	0.38232	-1.0689	0.09657	T	0.084	0.32729	T	10	0.20116574	0.36190	T	0.221786	0.87823	D	0.176	0.44373	0.188	0.09776	0.453679287548	0.44989	0.12662339495494848	0.12588	0.0790241718364	0.08888	0.856227517128	0.90550	D	0.100228	0.40582	T	-0.0563512	0.43475	T	-0.318721	0.42716	T	0.562252483175984	0.34940	D	0.738026	0.36463	T	0.19643141	0.41471	0.2574995	0.51467	0.19643141	0.41471	0.2574995	0.51466	-4.293	0.32397	T	.	.	0.200	0.42404	B	.;.;.;.	.;.;.;.	2.999621	0.40076	21.1	0.99346664774851301	0.60412	0.62401	0.31770	D	AEFDGBHCI	0.409216	0.48058	N	-0.31765426900516	0.28477	1.571047	-0.203688438534621	0.31404	1.776905	0.999999996646426	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.2	3.2	0.35826	2.423000	0.44361	2.756000	0.34570	0.546000	0.25710	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	8.016	0.29543	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	572.33	20	chr2	55049888	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.5;DP=554;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=2.43;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,931	18	0	1	0
chr2	55180656	55180656	G	A	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353785:exon6:c.C620T:p.T207I,CLHC1:NM_001353779:exon7:c.C674T:p.T225I,CLHC1:NM_001353782:exon8:c.C818T:p.T273I,CLHC1:NM_001353786:exon8:c.C674T:p.T225I,CLHC1:NM_001353787:exon8:c.C674T:p.T225I,CLHC1:NM_001135598:exon9:c.C872T:p.T291I,CLHC1:NM_001353780:exon9:c.C1040T:p.T347I,CLHC1:NM_001353783:exon9:c.C818T:p.T273I,CLHC1:NM_001353784:exon9:c.C872T:p.T291I,CLHC1:NM_001353781:exon10:c.C872T:p.T291I,CLHC1:NM_152385:exon11:c.C1238T:p.T413I	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0014	0.0107827	0.0051	0.0002	0.0012	0.0398	0.0077	0.0026	0.0110	0.0015	0.0047218	730	154602	rs76870665	0.0033	0.0033	0.0033	0.0034	0.0511	0.0033	0.0032	0.0492	0.0485	0.0002	0.0008	0.0039	0.0511	0.0086	0.0012	0.0016	0.0041	0.0020	0.0032	0.0032	0.0030	0.0034	0.0405	0.0030	0.0029	0.0360	0.0343	7.223e-05	0	0.0013	0.0049	0.0405	0.0072	0	0.0021	0.0043	0.0019	0.464	0.08634	T	0.228	0.25286	T	0.766	0.43754	P	0.243	0.38752	B	0.042740	0.23812	N	0.396846	1	0.18198	N	2.39	0.68882	M	2.18	0.18875	T	-1.62	0.39314	N	0.135	0.13626	-1.0448	0.15884	T	0.007	0.02399	T	10	0.0023792386	0.00035	T	.	.	.	0.025	0.05312	.	.	0.124217242631	0.12060	0.1570814942002049	0.15629	0.00918750411922	0.00832	0.358732521534	0.19201	T	0.002625	0.02014	T	-0.545462	0.00311	T	-0.519051	0.20390	T	0.00917395028099565	0.00116	T	0.734627	0.35069	T	0.06757886	0.14646	0.055721316	0.09825	0.07432854	0.16672	0.045785457	0.06238	-3.39	0.17424	T	0.2534411652156697	0.34282	0.097	0.16626	B	.;.;.	.;.;.	2.016777	0.25627	16.83	0.98784659867986335	0.46190	0.01783	0.05581	N	AEFDHCI	0.064635	0.12563	N	-0.228984072849751	0.31949	1.796694	-0.276013101367932	0.28890	1.61434	0.689165812533894	0.22568	0.638212	0.43195	0	0.667123	0.63270	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.98	3.22	0.36041	1.382000	0.33980	3.987000	0.40955	0.613000	0.49114	0.021000	0.19753	0.872000	0.27604	0.997000	0.79791	0.2467:0.0:0.5914:0.1618	4.188	0.09867	466	0.78352	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05263	2905.81	39	chr2	55180656	.	G	A	2905.81	.	AC=2;AF=0.053;AN=38;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.91;SOR=1.464	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr2	55217953	55217953	T	C	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353780:exon4:c.A223G:p.K75E,CLHC1:NM_152385:exon4:c.A223G:p.K75E	.	.	.	.	.	.	.	.	.	.	.	3656644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0288741078379	.	.	4.194e-05	9.72e-05	8.696e-05	0.0001	0	1.517e-05	0	6.478e-05	3.23e-05	5	154602	rs773186159	3.138e-05	3.215e-05	3.471e-05	2.802e-05	9.77e-05	2.392e-05	2.135e-05	4.791e-05	3.525e-05	0	4.951e-05	0	2.61e-05	0	0	3.095e-05	0	9.77e-05	3.942e-05	3.94e-05	0	8.069e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.997123	0.81001	D	2.685	0.78553	M	0.51	0.55439	T	-2.33	0.74051	N	0.912	0.91391	-0.3408	0.73820	T	0.342	0.70778	T	10	0.36936405	0.53353	T	0.028874	0.51484	D	0.208	0.49714	0.207	0.12356	0.449088463789	0.44533	0.7404621057900231	0.73991	0.0539975230124	0.05968	0.611887812614	0.54584	T	0.082669	0.36880	T	0.162967	0.70476	D	0.180958	0.82049	D	0.364825929717441	0.27597	T	0.761124	0.39853	T	0.753092	0.81048	0.80526125	0.88600	0.753092	0.81049	0.80526125	0.88601	-10.465	0.76646	D	0.8203786253296779	0.89349	0.765	0.76393	P	.;.;.	.;.;.	4.521219	0.70884	25.6	0.998555828432941	0.93458	0.94357	0.60908	D	AEFI	0.757256	0.69627	D	0.753304856391709	0.83119	7.934784	0.745446928428057	0.85817	8.695045	0.999975356475771	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	5.276000	0.65391	7.889000	0.72943	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.101	0.80981	422	0.81333	Translin-associated factor X-interacting protein 1, N-terminal;Translin-associated factor X-interacting protein 1, N-terminal;Translin-associated factor X-interacting protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1171.33	35	chr2	55217953	.	T	C	1171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.885;DP=723;ExcessHet=0;FS=7.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.86;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	18	0	1	0
chr2	55237312	55237312	G	A	exonic	MTIF2	.	nonsynonymous SNV	MTIF2:NM_001321004:exon14:c.C1987T:p.R663C,MTIF2:NM_001321005:exon14:c.C1258T:p.R420C,MTIF2:NM_001321001:exon15:c.C1987T:p.R663C,MTIF2:NM_001321002:exon15:c.C1987T:p.R663C,MTIF2:NM_002453:exon15:c.C1987T:p.R663C,MTIF2:NM_001005369:exon16:c.C1987T:p.R663C,MTIF2:NM_001321003:exon16:c.C1987T:p.R663C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.131061459549	.	.	8.247e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs762071712	8.902e-06	8.893e-06	6.814e-06	1.101e-05	1.163e-05	4.97e-06	3.83e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.056331	1	0.81001	D	4.65	0.99371	H	-0.46	0.70014	T	-7.48	0.94988	D	0.872	0.86941	0.681	0.92938	D	0.696	0.89503	D	10	0.97442114	0.97153	D	0.131061	0.81328	D	0.690	0.88726	0.797	0.91729	0.93268529992	0.93199	0.7739053659469254	0.77340	0.366090419773	0.38189	0.443796694279	0.31096	T	0.809237	0.95215	D	0.312004	0.83896	D	0.311026	0.88701	D	0.999812185764313	0.99146	D	0.940206	0.77406	D	0.7817508	0.82761	0.7168269	0.83285	0.7817508	0.82763	0.7168269	0.83286	-11.176	0.80615	D	.	.	0.472	0.64799	A	.;.;.	.;.;.	5.239192	0.87955	29.4	0.99909412817299115	0.97949	0.97337	0.74114	D	AEFDBHCI	0.817415	0.73891	D	1.02310621386927	0.96412	14.66287	0.915909083648163	0.96228	14.44859	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	6.188000	0.71968	11.778000	0.96035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.328	0.98710	403	0.82567	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	631.33	34	chr2	55237312	.	G	A	631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.434;DP=676;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.136;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr2	55672909	55672909	C	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon9:c.G850C:p.V284L	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0123105707603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.05686	T	0.61	0.07691	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.07	0.27075	L	0.38	0.57575	T	-0.38	0.13418	N	0.572	0.59478	-1.0505	0.14258	T	0.117	0.41363	T	10	0.31811035	0.49214	T	0.012311	0.30768	T	0.175	0.44197	0.394	0.41935	0.415205042976	0.41139	0.4911910135296833	0.49040	0.135733827695	0.15309	0.514081656933	0.40794	T	0.015767	0.13159	T	-0.0209662	0.48717	T	-0.267893	0.48033	T	0.635170102119446	0.37833	D	.	.	.	0.4233349	0.62313	0.31171015	0.57177	0.4233349	0.62313	0.31171015	0.57176	-1.663	0.02134	T	0.08988623713153274	0.05541	0.143	0.31381	B	.	.	2.444385	0.31468	18.75	0.97812776300310422	0.36142	0.98800	0.87016	D	AEFDBIJ	0.639302	0.61741	D	-0.0303406047666719	0.40485	2.405057	0.196315068735688	0.49643	3.165191	0.999999999999931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	4.685000	0.61381	3.312000	0.37472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	20.363	0.98865	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5079.83	34	chr2	55672909	.	C	G	5079.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=1032;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.728;SOR=0.675	GT:AD:DP:GQ:PL	0/1:107,134:241:99:3335,0,2560	17	0	2	0
chr2	58048935	58048935	T	C	exonic	VRK2	.	nonsynonymous SNV	VRK2:NM_001130480:exon2:c.T104C:p.I35T,VRK2:NM_001130481:exon2:c.T104C:p.I35T,VRK2:NM_001130482:exon2:c.T35C:p.I12T,VRK2:NM_001130483:exon2:c.T104C:p.I35T,VRK2:NM_006296:exon2:c.T104C:p.I35T,VRK2:NM_001288838:exon4:c.T104C:p.I35T,VRK2:NM_001288837:exon5:c.T104C:p.I35T	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	.	0.0026	0.00319489	0.0049	0.0002	0.0005	0	0.0039	0.0038	0.0121	0.0177	0.0043466	672	154602	rs144870539	0.0037	0.0037	0.0030	0.0043	0.0179	0.0036	0.0035	0.0172	0.0169	0.0003	0.0011	0.0008	2.522e-05	0.0039	0.0118	0.0029	0.0039	0.0179	0.0028	0.0028	0.0025	0.0031	0.0160	0.0026	0.0025	0.0131	0.0120	0.0004	0	0.0027	0.0006	0.0002	0.0040	0.0068	0.0035	0.0014	0.0160	0.0	0.91255	D	0.001	0.83351	D	0.955	0.58077	P	0.823	0.70482	P	0.000000	0.84330	D	0.087751	0.999707	0.48408	D	4.675	0.99424	H	-0.54	0.70950	T	-4.43	0.79998	D	0.816	0.84609	0.691	0.93060	D	0.691	0.89342	D	10	0.013455421	0.00285	T	.	.	.	0.538	0.80664	.	.	0.912745004354	0.91186	0.8664656802548126	0.86611	0.108113305918	0.12188	0.538242340088	0.44198	T	0.350059	0.71782	T	-0.0795587	0.39787	T	0.127223	0.78711	D	0.116437750245254	0.14078	T	0.836416	0.61387	T	0.90567607	0.91895	0.781187	0.87102	0.90567607	0.91896	0.781187	0.87103	-9.921	0.81373	D	.	.	0.152	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.442716	0.68994	25.3	0.99838950329381626	0.91972	0.90931	0.52533	D	AEFDBCI	0.698749	0.65632	D	0.929905970733908	0.93146	11.85038	0.849755546974797	0.93001	11.76317	0.99999999725518	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.96	5.96	0.96695	5.175000	0.64857	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	14.999	0.71112	780	0.47616	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	2029.81	38	chr2	58048935	.	T	C	2029.81	.	AC=2;AF=0.053;AN=38;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.42;SOR=1.131	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1332	18	1	0	0
chr2	60787527	60787527	A	G	exonic	PAPOLG	.	nonsynonymous SNV	PAPOLG:NM_022894:exon15:c.A1303G:p.M435V	.	.	.	.	.	.	.	.	.	.	.	2341001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.528	0.00674578660019	.	.	8.438e-05	0.0001	0.0004	0	0	7.704e-05	0	0	7.76e-05	12	154602	rs531545418	6.637e-05	6.704e-05	7.216e-05	6.052e-05	0.0004	5.563e-05	5.153e-05	0.0003	0.0002	5.976e-05	0.0004	0	2.52e-05	1.873e-05	0.0002	5.216e-05	6.625e-05	0.0001	5.913e-05	5.91e-05	3.854e-05	8.068e-05	0.0003	3.077e-05	2.21e-05	8.881e-05	5.389e-05	2.412e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.101	0.68238	T	0.208	0.63109	T	0.203	0.29776	B	0.114	0.31755	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.835	0.48228	L	.	.	.	-2.54	0.59389	D	0.689	0.69474	-0.4206	0.71373	T	0.319	0.68848	T	9	0.4466288	0.58437	T	0.006746	0.17812	T	0.528	0.80067	0.57	0.69299	0.761725014765	0.75955	0.755533015738392	0.75500	0.828076181443	0.67503	0.793049573898	0.80906	T	0.084432	0.37277	T	0.171351	0.71247	D	0.330323	0.89522	D	0.136609569191933	0.15980	T	0.920508	0.71260	D	0.45826307	0.64563	0.31622043	0.57604	0.45826307	0.64563	0.31622043	0.57603	-8.716	0.65850	D	.	.	0.145	0.54346	B	.;.	.;.	4.403021	0.68047	25.2	0.99429335503709004	0.64179	0.99564	0.97489	D	AEFBI	0.730609	0.67795	D	0.456186003266956	0.64554	4.712672	0.523149522365889	0.69551	5.376545	0.986439182449511	0.31063	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	7.022000	0.76169	11.271000	0.91406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.863:0.0:0.0:0.137	11.237	0.48177	697	0.58201	Poly(A) polymerase, RNA-binding domain;Poly(A) polymerase, RNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1788.83	34	chr2	60787527	.	A	G	1788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=713;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.827;SOR=0.734	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1026,0,583	17	0	2	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A,REL:NM_002908:exon11:c.A1297G:p.T433A	.	431	1067	24	0	0	24	0.0111214	.	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.034091	0.1053	7382.43	34	chr2	60921972	.	A	G	7382.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.84;DP=1149;ExcessHet=0.7564;FS=1.738;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.145;SOR=0.625	GT:AD:DP:GQ:PL	0/1:89,84:173:99:2350,0,2225	15	0	4	0
chr2	61008939	61008939	G	A	exonic	PUS10	.	nonsynonymous SNV	PUS10:NM_001322123:exon3:c.C203T:p.P68L,PUS10:NM_001322124:exon3:c.C203T:p.P68L,PUS10:NM_144709:exon3:c.C203T:p.P68L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00104710804567	.	.	1.667e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756902274	6.843e-06	6.841e-06	0	1.376e-05	0.0001	3.46e-06	2.52e-06	6.248e-05	4.759e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.334	0.18340	T	0.0	0.02946	B	0.0	0.01387	B	0.715199	0.06281	N	1.141950	0.694963	0.33364	D	-1.1	0.00987	N	.	.	.	-0.57	0.17210	N	0.133	0.17553	-1.0340	0.19173	T	0.052	0.22192	T	9	0.027821809	0.00922	T	0.001047	0.01191	T	0.148	0.39182	0.235	0.16457	0.234412748748	0.23057	0.21286763807727385	0.21202	0.0383945426521	0.04090	0.270917832851	0.06262	T	0.013182	0.11452	T	-0.291597	0.09477	T	-0.453035	0.27363	T	0.0338105298578739	0.02606	T	0.788921	0.42853	T	0.03671166	0.04569	0.035783008	0.02895	0.03671166	0.04569	0.035783008	0.02895	-3.406	0.15137	T	.	.	0.069	0.08560	B	.;.;.	.;.;.	1.205238	0.15976	12.23	0.59351792919960156	0.06204	0.08191	0.14151	N	AEFBI	0.040404	0.06005	N	-0.891786353598588	0.11037	0.5305011	-0.735917907775374	0.16070	0.8483276	0.105772882933565	0.16512	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.58	-1.82	0.07433	0.267000	0.18318	2.366000	0.32401	0.618000	0.50648	0.536000	0.27236	1.000000	0.68203	0.998000	0.85391	0.6555:0.0:0.2024:0.1421	6.638	0.22083	360	0.84920	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	35	chr2	61008939	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.526;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr2	61083247	61083247	C	T	exonic	KIAA1841	.	nonsynonymous SNV	KIAA1841:NM_001330432:exon7:c.C385T:p.R129C,KIAA1841:NM_001129993:exon8:c.C823T:p.R275C,KIAA1841:NM_001330433:exon8:c.C823T:p.R275C,KIAA1841:NM_001330434:exon8:c.C823T:p.R275C,KIAA1841:NM_001330435:exon8:c.C823T:p.R275C,KIAA1841:NM_001330436:exon8:c.C823T:p.R275C,KIAA1841:NM_032506:exon8:c.C823T:p.R275C	.	439	1069	12	2	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0435212788134	0.0008	0.00159744	0.0011	9.808e-05	0.0004	0.0001	0	0.0003	0.0022	0.0059	0.0008861	137	154602	rs140620846	0.0008	0.0008	0.0006	0.0010	0.0067	0.0008	0.0007	0.0062	0.0060	0.0003	0.0002	0	0.0008	1.872e-05	0.0031	0.0004	0.0007	0.0067	0.0008	0.0008	0.0007	0.0008	0.0085	0.0007	0.0006	0.0064	0.0057	0.0003	0	0.0005	0	0.0004	0	0	0.0008	0.0009	0.0085	0.0	0.91255	D	0.001	0.83351	D	0.403	0.90584	B	0.08	0.67658	B	0.000006	0.62929	D	0.109289	0.99999	0.58761	D	2.005	0.54552	M	.	.	.	-7.0	0.93697	D	0.517	0.55453	-0.5897	0.65233	T	0.310	0.68085	T	9	0.016627222	0.00351	T	0.043521	0.61028	D	0.427	0.73445	.	.	0.620138186352	0.61706	0.6383828255590289	0.63772	0.118335029965	0.13327	0.531667590141	0.43270	T	0.35427	0.72144	T	-0.313216	0.07467	T	-0.219661	0.52770	T	0.129381190369104	0.15324	T	0.873813	0.58316	D	0.7603953	0.81476	0.47367552	0.69493	0.7603953	0.81478	0.47367552	0.69493	-9.549	0.71163	D	.	.	0.112	0.25364	B	.;.;.;.;.	.;.;.;.;.	3.976757	0.58430	24.0	0.97388331696376018	0.33711	0.90578	0.51870	D	AEFBI	0.246862	0.36755	N	0.00858502247680668	0.42246	2.54175	-0.0406254711371744	0.37899	2.225322	1.74965175825222E-5	0.02871	0.744818	0.98587	0	0.588066	0.40923	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.48	-0.618	0.10995	3.943000	0.56332	3.279000	0.37216	-0.173000	0.11020	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.1151:0.5612:0.0:0.3237	6.016	0.18832	383	0.83590	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2999.83	33	chr2	61083247	.	C	T	2999.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.33;DP=830;ExcessHet=0.119;FS=1.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.427;SOR=0.816	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1426	17	0	2	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	16	0	3	0
chr2	62831118	62831118	G	T	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001354217:exon6:c.G594T:p.E198D,EHBP1:NM_001142614:exon7:c.G594T:p.E198D,EHBP1:NM_001142615:exon7:c.G594T:p.E198D,EHBP1:NM_001142616:exon7:c.G594T:p.E198D,EHBP1:NM_001354212:exon7:c.G594T:p.E198D,EHBP1:NM_001354213:exon7:c.G594T:p.E198D,EHBP1:NM_001354214:exon7:c.G594T:p.E198D,EHBP1:NM_001354215:exon7:c.G594T:p.E198D,EHBP1:NM_001354216:exon7:c.G594T:p.E198D,EHBP1:NM_001354218:exon7:c.G594T:p.E198D,EHBP1:NM_001354219:exon7:c.G594T:p.E198D,EHBP1:NM_001354220:exon7:c.G594T:p.E198D,EHBP1:NM_001354221:exon7:c.G594T:p.E198D,EHBP1:NM_001354222:exon7:c.G594T:p.E198D,EHBP1:NM_015252:exon7:c.G594T:p.E198D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0144802509878	.	.	0.0001	9.623e-05	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs200124260	0.0001	0.0001	0.0001	0.0001	0.0010	9.795e-05	9.27e-05	0.0005	0.0003	0.0001	4.73e-05	0	2.541e-05	3.748e-05	0.0010	0.0001	0.0001	4.765e-05	7.224e-05	7.219e-05	8.996e-05	5.373e-05	0.0001	3.969e-05	3.126e-05	7.911e-05	5.995e-05	2.407e-05	0	0	0	0	0	0	0.0001	0	0	0.156	0.47320	T	0.472	0.32891	T	0.233	0.77913	B	0.065	0.82059	B	0.000006	0.62929	N	0.104542	0.976244	0.39259	D	1.955	0.52871	M	-0.81	0.74477	T	-1.25	0.33401	N	0.275	0.31140	-0.4091	0.71739	T	0.437	0.77644	T	10	0.10822213	0.20136	T	0.01448	0.34624	T	0.190	0.46781	0.106	0.01810	0.526266166122	0.52272	0.17747377974381634	0.17666	0.0926667827727	0.10463	0.698562085629	0.66937	T	0.019417	0.15476	T	-0.178215	0.24000	T	-0.234091	0.51375	T	0.132468119263649	0.15608	T	0.836316	0.50742	T	0.06853518	0.14940	0.057602126	0.10501	0.06853518	0.14940	0.057602126	0.10500	-6.123	0.47297	T	.	.	0.067	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	2.577568	0.33415	19.33	0.99775672302554341	0.86346	0.89766	0.50444	D	AEFGBI	0.385150	0.46600	N	-0.00307005324493722	0.41717	2.50027	0.00523373533062773	0.39957	2.377139	0.0292108467839491	0.13874	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.95	1.98	0.25351	1.782000	0.38284	0.306000	0.17032	-0.106000	0.15538	1.000000	0.71638	0.949000	0.28973	0.987000	0.62547	0.317:0.0:0.5547:0.1282	5.452	0.15867	496	0.76301	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	33	chr2	62831118	.	G	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=721;ExcessHet=0;FS=2.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.4;SOR=0.468	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1408	18	0	1	0
chr2	62948717	62948717	G	A	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142614:exon13:c.G1871A:p.S624N,EHBP1:NM_001142615:exon13:c.G1871A:p.S624N,EHBP1:NM_001142616:exon13:c.G1871A:p.S624N,EHBP1:NM_001354217:exon13:c.G1976A:p.S659N,EHBP1:NM_001354218:exon13:c.G1871A:p.S624N,EHBP1:NM_001354219:exon13:c.G1871A:p.S624N,EHBP1:NM_001354220:exon13:c.G1871A:p.S624N,EHBP1:NM_001354212:exon14:c.G1976A:p.S659N,EHBP1:NM_001354213:exon14:c.G1976A:p.S659N,EHBP1:NM_001354214:exon14:c.G1976A:p.S659N,EHBP1:NM_001354215:exon14:c.G1976A:p.S659N,EHBP1:NM_001354216:exon14:c.G1976A:p.S659N,EHBP1:NM_015252:exon14:c.G1976A:p.S659N	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0163734082483	0.0004	.	0.0005	9.696e-05	0.0018	0	0	0.0005	0.0011	0	0.0003881	60	154602	rs140493234	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0011	0.0019	0	0	0.0029	0.0002	0.0005	0.0002	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.216e-05	0	0.0009	0.0009	0	0	0.0034	0.0005	0.0005	0.0002	0.133	0.28646	T	0.515	0.13403	T	0.004	0.17786	B	0.006	0.21085	B	0.000000	0.84330	N	0.042311	0.572864	0.32309	D	1.52	0.38360	L	-0.88	0.74689	T	-0.92	0.27463	N	0.258	0.29197	-0.5515	0.66730	T	0.268	0.63992	T	10	0.014242977	0.00300	T	0.016373	0.37594	T	0.150	0.39571	.	.	0.420780279148	0.41693	0.2455782241165902	0.24471	0.0945963051	0.10686	0.549833476543	0.45834	T	0.010892	0.09789	T	-0.405789	0.02121	T	-0.406105	0.32674	T	0.0125584370921436	0.00209	T	0.789521	0.43637	T	0.18528767	0.39884	0.15227534	0.35833	0.16819286	0.37261	0.14758891	0.34920	-4.224	0.28664	T	.	.	0.127	0.28807	B	.;.;.;.	.;.;.;.	3.107036	0.41893	21.4	0.97510087117562183	0.34347	0.89153	0.49448	D	AEFBI	0.178244	0.30550	N	-0.088129188631157	0.37913	2.21264	0.0819518579984197	0.43640	2.661697	0.516162326566969	0.21058	0.615465	0.37627	0	0.633656	0.55848	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	6.03	4.22	0.49153	2.675000	0.46541	3.557000	0.39072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.268:0.0:0.732:0.0	9.318	0.37108	377	0.83897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1787.33	33	chr2	62948717	.	G	A	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.201;DP=741;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.64;SOR=0.537	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	62993545	62993545	C	G	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142615:exon17:c.C2749G:p.L917V,EHBP1:NM_001142616:exon17:c.C2749G:p.L917V,EHBP1:NM_001354217:exon17:c.C2854G:p.L952V,EHBP1:NM_001354218:exon17:c.C2749G:p.L917V,EHBP1:NM_001354219:exon17:c.C2746G:p.L916V,EHBP1:NM_001354220:exon17:c.C2746G:p.L916V,EHBP1:NM_001354222:exon17:c.C1903G:p.L635V,EHBP1:NM_001142614:exon18:c.C2857G:p.L953V,EHBP1:NM_001354212:exon19:c.C2962G:p.L988V,EHBP1:NM_001354213:exon19:c.C2962G:p.L988V,EHBP1:NM_001354214:exon19:c.C2962G:p.L988V,EHBP1:NM_001354215:exon19:c.C2959G:p.L987V,EHBP1:NM_001354216:exon19:c.C2959G:p.L987V,EHBP1:NM_001354221:exon19:c.C2116G:p.L706V,EHBP1:NM_015252:exon19:c.C2962G:p.L988V	.	.	.	.	.	.	.	.	.	.	.	3221300	EHBP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0124398984289	0.0011	0.000199681	0.0010	0.0003	0.0004	0	0	0.0014	0.0011	0.0012	0.0009961	154	154602	rs150215775	0.0012	0.0012	0.0012	0.0013	0.0020	0.0012	0.0012	0.0017	0.0016	0.0002	0.0005	0.0003	0	0.0003	0.0005	0.0014	0.0008	0.0020	0.0008	0.0008	0.0009	0.0008	0.0017	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0004	0.0006	0	0.0002	0	0.0014	0	0.0017	0.459	0.24955	T	0.507	0.11227	T	0.328	0.33195	B	0.053	0.31289	B	0.029254	0.25481	N	0.393637	0.760827	0.34036	D	0.695	0.17993	N	-0.78	0.73949	T	-0.54	0.18459	N	0.145	0.14622	-0.7898	0.55741	T	0.163	0.49897	T	10	0.011664897	0.00254	T	0.01244	0.31014	T	0.135	0.36572	.	.	0.43068463968	0.42687	0.2262068955260195	0.22535	0.102553780101	0.11607	0.288395822048	0.08689	T	0.010154	0.09196	T	-0.402026	0.02245	T	-0.374886	0.36320	T	0.0278418358172615	0.01665	T	0.910709	0.71216	D	0.101232074	0.23911	0.08370412	0.19203	0.101232074	0.23910	0.08370412	0.19203	-3.655	0.19067	T	.	.	0.067	0.02428	B	.;.;.;.	.;.;.;.	2.171093	0.27664	17.54	0.91071297199696499	0.20323	0.94423	0.61117	D	AEFBI	0.529650	0.55068	D	0.258317075518706	0.54050	3.571773	0.380061436528824	0.60336	4.220063	0.985050314080483	0.30820	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	1.339000	0.33489	2.794000	0.34813	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.1417:0.8582:0.0:0.0	15.080	0.71774	351	0.85421	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	916.33	34	chr2	62993545	.	C	G	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=2.06;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr2	63484955	63484955	G	A	exonic	WDPCP	.	nonsynonymous SNV	WDPCP:NM_001354045:exon5:c.C286T:p.R96C,WDPCP:NM_015910:exon5:c.C286T:p.R96C,WDPCP:NM_001354044:exon6:c.C214T:p.R72C	.	.	.	.	.	.	.	.	.	.	.	1004203	Bardet-Biedl_syndrome|Heart_defect_-_tongue_hamartoma_-_polysyndactyly_syndrome|Bardet-Biedl_syndrome_15|WDPCP-related_disorder	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009008,MedGen:C1857587,OMIM:217085,Orphanet:1338|MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992,Orphanet:110|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.184226558031	.	.	1.672e-05	0	0	0	0	1.51e-05	0	6.104e-05	2.59e-05	4	154602	rs375338402	1.643e-05	1.71e-05	1.635e-05	1.652e-05	0.0002	1.112e-05	9.34e-06	2.004e-05	1.055e-05	2.993e-05	6.734e-05	7.671e-05	7.56e-05	1.873e-05	0.0002	6.3e-06	4.975e-05	3.479e-05	3.948e-05	3.941e-05	6.433e-05	1.347e-05	0.0002	1.717e-05	1.131e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0.0002	0	0	2.944e-05	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.66	0.85173	T	-5.4	0.95842	D	0.929	0.93370	0.568	0.91479	D	0.742	0.91202	D	10	0.72630453	0.73996	D	0.184227	0.85736	D	0.455	0.75415	0.424	0.46857	0.962191848888	0.96178	0.552280107357883	0.55154	0.637075281149	0.57461	0.747625291348	0.74096	T	0.146841	0.48463	T	0.258163	0.79359	D	0.358758	0.90656	D	0.869208812713623	0.51915	D	0.940306	0.80130	D	0.5568595	0.70336	0.54053086	0.73446	0.5568595	0.70337	0.54053086	0.73446	-6.544	0.50625	T	0.7532656329379175	0.83532	0.873	0.82660	P	.;.;.	.;.;.	5.867468	0.93881	33	0.99939892170235445	0.99767	0.95981	0.66997	D	AEFI	0.835272	0.75321	D	0.854880587943842	0.89384	9.949642	0.848018461032179	0.92899	11.70018	0.834254169457884	0.24748	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	5.497000	0.66642	11.903000	0.99411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8697:0.1303	16.648	0.85039	493	0.76500	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	826.33	36	chr2	63484955	.	G	A	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=718;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.508;SOR=0.923	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	18	0	1	0
chr2	64553270	64553270	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375969:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375970:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375971:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375972:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375973:exon2:c.G1796A:p.R599Q,AFTPH:NM_017657:exon2:c.G1796A:p.R599Q,AFTPH:NM_203437:exon2:c.G1796A:p.R599Q	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0105635573149	0.0012	0.000199681	0.0010	0.0002	0.0002	0	0.0003	0.0016	0	0.0004	0.0008991	139	154602	rs145180972	0.0012	0.0012	0.0012	0.0012	0.0047	0.0012	0.0011	0.0033	0.0028	0.0002	0.0010	0.0107	2.519e-05	9.361e-05	0.0047	0.0011	0.0017	0.0005	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0008	0.0023	0.0021	0.0001	0	0.0030	0.0052	0	0.0003	0.0102	0.0011	0.0009	0.0004	0.151	0.24564	T	0.567	0.09588	T	0.999	0.77913	D	0.744	0.55835	P	0.000519	0.43753	D	0.143981	0.918307	0.27353	N	2.43	0.70455	M	1.89	0.23884	T	-0.36	0.13035	N	0.162	0.25867	-0.9407	0.42505	T	0.146	0.46967	T	10	0.0066280365	0.00150	T	0.010564	0.27238	T	0.106	0.30130	.	.	0.395439683604	0.39153	0.09268503856702141	0.09200	0.145550282508	0.16445	0.31736022234	0.13020	T	0.005785	0.05228	T	-0.390562	0.02668	T	-0.36917	0.36985	T	0.0419444429151859	0.04044	T	0.837516	0.51368	T	0.06829398	0.14865	0.066421665	0.13602	0.06829398	0.14865	0.066421665	0.13602	-2.131	0.03764	T	.	.	0.081	0.10256	B	.;.;.	.;.;.	3.608351	0.51007	23.0	0.99494756820086461	0.67687	0.94159	0.60291	D	AEFDBI	0.485845	0.52526	N	0.303078558336739	0.56307	3.795164	0.364641707865849	0.59393	4.116906	0.999957760131871	0.48110	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	5.13	0.69729	3.440000	0.52649	5.710000	0.49419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7339:0.2661	14.489	0.67220	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.015152	0.004076	0.002924	0.100000	0.000000	0.000000	0.007576	0.05263	2742.83	63	chr2	64553270	.	G	A	2742.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.472;DP=826;ExcessHet=0.119;FS=2.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.713;SOR=0.899	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1117	17	0	2	0
chr2	64553332	64553332	A	G	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A1858G:p.T620A,AFTPH:NM_001375969:exon2:c.A1858G:p.T620A,AFTPH:NM_001375970:exon2:c.A1858G:p.T620A,AFTPH:NM_001375971:exon2:c.A1858G:p.T620A,AFTPH:NM_001375972:exon2:c.A1858G:p.T620A,AFTPH:NM_001375973:exon2:c.A1858G:p.T620A,AFTPH:NM_017657:exon2:c.A1858G:p.T620A,AFTPH:NM_203437:exon2:c.A1858G:p.T620A	.	437	1068	16	1	0	18	0.00835655	.	.	.	2811968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00948321171599	0.0034	0.00199681	0.0033	0.0005	0.0047	0	0.0005	0.0048	0.0022	0.0011	0.0032729	506	154602	rs34934815	0.0036	0.0036	0.0037	0.0036	0.0075	0.0036	0.0035	0.0057	0.0051	0.0009	0.0041	0.0069	0	0.0004	0.0075	0.0041	0.0037	0.0008	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0043	0.0041	0.0007	0	0.0050	0.0098	0	9.418e-05	0.0034	0.0047	0.0071	0.0004	0.06	0.37326	T	0.185	0.36765	T	0.144	0.27697	B	0.081	0.28987	B	0.763166	0.09606	N	0.901569	1	0.08975	N	1.735	0.44892	L	1.85	0.24656	T	-0.89	0.25551	N	0.104	0.08786	-1.0046	0.28577	T	0.067	0.27399	T	10	0.0027565658	0.00043	T	0.009483	0.24832	T	0.026	0.05648	.	.	0.497932935699	0.49429	0.10551513955855517	0.10481	0.133463505659	0.15028	0.232785195112	0.02181	T	0.004055	0.03463	T	-0.493843	0.00619	T	-0.475609	0.24915	T	0.0116994565290231	0.00179	T	0.605739	0.22785	T	0.047546048	0.08144	0.0723883	0.15610	0.047546048	0.08144	0.0723883	0.15610	-3.663	0.18773	T	.	.	0.083	0.09433	B	.;.;.	.;.;.	1.171557	0.15615	11.98	0.9401678727682018	0.24121	0.87132	0.46580	D	AEFBI	0.086384	0.17514	N	-0.337635485713454	0.27729	1.523727	-0.264747097594054	0.29267	1.638415	0.999514073788788	0.40117	0.706298	0.61202	0	0.606735	0.50208	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	3.6	0.40374	2.497000	0.45014	4.198000	0.42449	0.756000	0.94297	0.908000	0.31627	0.998000	0.33993	0.953000	0.50222	0.8013:0.0:0.069:0.1297	7.163	0.24851	788	0.46569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.006793	0.000000	0.200000	0.008621	0.006098	0.003788	0.02632	781.33	62	chr2	64553332	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.441;DP=693;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.169;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1117	18	0	1	0
chr2	65018676	65018676	T	C	exonic	SLC1A4	.	nonsynonymous SNV	SLC1A4:NM_001193493:exon6:c.T467C:p.I156T,SLC1A4:NM_001348406:exon7:c.T701C:p.I234T,SLC1A4:NM_001348407:exon7:c.T701C:p.I234T,SLC1A4:NM_003038:exon7:c.T1361C:p.I454T	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.106596639987	7.7e-05	.	8.243e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs376729396	2.394e-05	2.394e-05	2.995e-05	1.788e-05	4.472e-05	1.738e-05	1.539e-05	1.746e-05	1.503e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.518e-05	4.967e-05	0	3.944e-05	3.94e-05	5.141e-05	2.69e-05	7.241e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.241e-05	0	6.552e-05	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	0.987	0.61912	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.75	0.95014	H	0.05	0.61923	T	-2.31	0.58085	N	0.953	0.99670	0.184	0.85639	D	0.508	0.81507	D	10	0.85410285	0.84600	D	0.106597	0.78228	D	0.586	0.83416	.	.	0.918698969145	0.91787	0.9088934662583353	0.90863	1.17662573671	0.79888	0.858147025108	0.90837	D	0.515545	0.82958	D	0.175057	0.71587	D	0.293116	0.87857	D	0.913348972797394	0.56958	D	0.963904	0.86656	D	0.83406717	0.86187	0.73104954	0.84108	0.83406717	0.86188	0.73104954	0.84109	-7.957	0.60776	D	0.34939980664409265	0.44670	0.748	0.76407	P	.;.	.;.	4.979870	0.82485	27.8	0.99826966265997918	0.90939	0.97062	0.72468	D	AEFDBCIJ	0.907113	0.86073	D	0.911667442714906	0.92320	11.35606	0.875209298230321	0.94398	12.731	0.999999999999992	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	8.017000	0.88732	7.935000	0.75225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.378	0.83253	886	0.28090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	772.33	40	chr2	65018676	.	T	C	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=719;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.766;SOR=0.504	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	67403239	67403239	G	C	exonic	ETAA1	.	nonsynonymous SNV	ETAA1:NM_019002:exon5:c.G557C:p.S186T	.	512	984	23	3	0	29	0.0145218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0006	0.000599042	0.0025	0	0.0008	0.0001	0.0002	0.0014	0.0077	0.0144	0.0002911	45	154602	rs201056460	0.0016	0.0016	0.0012	0.0019	0.0190	0.0015	0.0015	0.0160	0.0149	0.0003	0.0010	0.0037	5.083e-05	3.882e-05	0.0190	0.0008	0.0025	0.0120	0.0012	0.0012	0.0009	0.0014	0.0085	0.0010	0.0010	0.0064	0.0057	7.228e-05	0	0.0020	0.0040	0	0	0.0102	0.0012	0.0019	0.0085	0.009	0.57480	D	0.035	0.52389	D	0.01	0.15535	B	0.022	0.19653	B	0.005845	0.32460	N	0.352858	0.99806	0.22374	N	1.04	0.26193	L	2.16	0.19166	T	-1.3	0.32590	N	0.061	0.03283	-1.0206	0.23519	T	0.039	0.16763	T	10	0.0032284558	0.00055	T	.	.	.	0.027	0.05988	.	.	0.082315109003	0.07666	0.050468486461131404	0.04989	0.038995642377	0.04153	0.419647246599	0.27787	T	0.022452	0.17305	T	-0.624252	0.00104	T	-0.66151	0.08164	T	0.0128142455102638	0.00218	T	0.514149	0.16548	T	0.10648474	0.25179	0.11903876	0.28733	0.10648474	0.25178	0.11903876	0.28732	-4.154	0.26082	T	.	.	0.085	0.10352	B	.	.	1.547575	0.19836	14.46	0.94698218446344595	0.25348	0.78913	0.39008	D	AEFGBI	0.113732	0.22429	N	-0.428456259082109	0.24476	1.321859	-0.263942683120013	0.29295	1.640143	0.998497796866115	0.37071	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.16	2.16	0.26663	1.707000	0.37507	2.593000	0.33479	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7377:0.0:0.2623:0.0	10.797	0.45668	948	0.11499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005102	0.004076	0.008772	0.000000	0.008772	0.030675	0.026515	0.05263	1365.83	33	chr2	67403239	.	G	C	1365.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.103;DP=721;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.01;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	17	0	2	0
chr2	68380846	68380846	A	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon3:c.A322C:p.K108Q	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0006	0.00898562	0.0072	0.0004	0.0010	0	0	0.0016	0.0044	0.0448	0.0061642	953	154602	rs34515106	0.0034	0.0034	0.0023	0.0045	0.0416	0.0033	0.0033	0.0404	0.0400	8.964e-05	0.0007	0.0246	7.558e-05	5.616e-05	0.0029	0.0004	0.0047	0.0416	0.0023	0.0023	0.0016	0.0029	0.0414	0.0021	0.0020	0.0367	0.0349	0.0001	0	0.0005	0.0236	0.0002	0	0	0.0007	0.0009	0.0414	0.34	0.12714	T	0.245	0.24054	T	0.546	0.38028	P	0.154	0.34351	B	0.000007	0.62929	D	0.176415	0.998056	0.44459	D	1.445	0.36358	L	2.09	0.20122	T	-0.83	0.22727	N	0.295	0.33360	-1.0637	0.10855	T	0.031	0.13418	T	10	0.004865825	0.00104	T	.	.	.	0.070	0.20419	.	.	0.617017443408	0.61392	0.41767449752869146	0.41683	0.226157206265	0.25167	0.572419404984	0.49020	T	0.146341	0.48389	T	-0.494014	0.00618	T	-0.451693	0.27511	T	0.0243076559245668	0.01183	T	0.948605	0.80233	D	0.24333003	0.47270	0.088147804	0.20533	0.24333003	0.47270	0.088147804	0.20533	-4.34	0.28734	T	.	.	0.121	0.25034	B	.	.	3.326929	0.45779	22.2	0.97958558228684089	0.37158	0.92082	0.54905	D	AEFBCI	0.873794	0.79633	D	0.20340031234684	0.51364	3.318211	0.353056940264651	0.58690	4.041289	0.999999991328986	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.808000	0.68834	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8621:0.1378:0.0:0.0	12.643	0.56079	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1314.33	34	chr2	68380846	.	A	C	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=788;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.917;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1447	18	0	1	0
chr2	68513563	68513563	A	G	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon5:c.A505G:p.N169D	.	433	1080	9	0	0	9	0.00414938	.	.	.	3289724	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00327466638672	0.0006	0.000399361	0.0006	0	0.0011	0	0	0.0006	0	0.0009	0.0004916	76	154602	rs145654399	0.0006	0.0006	0.0006	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0	0.0009	0.0037	0	3.746e-05	0.0068	0.0005	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	9.636e-05	0	0.0014	0.0035	0	0	0.0034	0.0007	0.0014	0.0004	0.836	0.02840	T	0.859	0.03418	T	0.039	0.21116	B	0.014	0.16862	B	0.915975	0.08520	N	0.966138	1	0.08975	N	-0.695	0.01866	N	2.01	0.21291	T	-0.64	0.18670	N	0.1	0.08227	-0.9601	0.39162	T	0.018	0.07234	T	10	0.0062438548	0.00141	T	0.003275	0.07237	T	0.008	0.00669	.	.	0.246773566709	0.24272	0.10513774435908821	0.10443	0.0435277124011	0.04688	0.293653845787	0.09458	T	0.025622	0.19125	T	-0.697356	0.00038	T	-0.824921	0.01356	T	0.00972487050076408	0.00127	T	0.626037	0.24205	T	0.044666413	0.07179	0.040119555	0.04263	0.044666413	0.07179	0.040119555	0.04263	-4.059	0.24683	T	.	.	0.071	0.03736	B	.	.	0.106895	0.05072	1.611	0.62635984920107424	0.07013	0.02997	0.07858	N	AEFBI	0.036514	0.04877	N	-1.75202921020877	0.00673	0.02905452	-1.73852517746109	0.00977	0.04377642	3.20258260461768E-4	0.06498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.17	-5.25	0.02567	-0.552000	0.06110	-0.682000	0.07881	-0.840000	0.02799	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.5816:0.0674:0.1091:0.2419	4.249	0.10136	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1208.33	33	chr2	68513563	.	A	G	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.433;DP=711;ExcessHet=0;FS=0.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.605;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1118	18	0	1	0
chr2	68646184	68646184	-	TACT	exonic	PROKR1	.	frameshift insertion	PROKR1:NM_138964:exon2:c.363_364insTACT:p.Y123Lfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	1.365e-06	2.763e-06	2.706e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.706e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4340.29	33	chr2	68646184	.	C	CTACT	4340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.569;DP=906;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.3;SOR=0.94	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1446	18	0	1	0
chr2	68945406	68945406	T	C	exonic	GKN2	.	nonsynonymous SNV	GKN2:NM_182536:exon6:c.A517G:p.I173V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00491915443242	.	.	2.473e-05	9.701e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs749069078	2.535e-05	2.599e-05	1.5e-05	3.581e-05	0.0004	1.871e-05	1.633e-05	0.0003	0.0002	2.988e-05	0	0	0	0	0.0002	1.801e-06	3.32e-05	0.0004	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	2.414e-05	0	0	0	0	0	0	0	0	0.0006	0.015	0.52492	D	0.0	0.92824	D	0.009	0.15093	B	0.018	0.18489	B	0.041158	0.23980	N	0.424108	1	0.81001	D	1.54	0.38927	L	0.79	0.49068	T	-0.84	0.22944	N	0.163	0.17140	-1.0410	0.17011	T	0.102	0.37644	T	10	0.07101056	0.10409	T	0.004919	0.12380	T	0.025	0.05312	0.478	0.55663	0.183819452728	0.17975	0.5845234697399282	0.58382	0.0178036153524	0.01746	0.443079471588	0.30998	T	0.003799	0.03212	T	-0.380367	0.03100	T	-0.483824	0.24040	T	0.0627312585711479	0.07592	T	0.564843	0.19943	T	0.065620184	0.14042	0.063445784	0.12568	0.065620184	0.14041	0.063445784	0.12568	-3.47	0.16014	T	.	.	0.106	0.19720	B	.	.	0.884057	0.12572	9.101	0.98496286437120184	0.42156	0.61935	0.31630	D	AEFBI	0.086583	0.17555	N	-0.373106665673531	0.26430	1.442448	-0.300379245609223	0.28086	1.563271	0.99958646031345	0.40607	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	0.377	0.15430	0.073000	0.14504	-0.258000	0.10450	0.665000	0.62972	0.992000	0.37556	0.263000	0.23997	0.826000	0.38927	0.0:0.2511:0.1584:0.5905	4.500	0.11271	886	0.28090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	382.33	33	chr2	68945406	.	T	C	382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.368;DP=673;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=-0.491;SOR=0.923	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	18	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S,TIA1:NM_001351509:exon12:c.A1043G:p.N348S,TIA1:NM_001351510:exon12:c.A1034G:p.N345S,TIA1:NM_001351512:exon12:c.A932G:p.N311S,TIA1:NM_001351513:exon12:c.A926G:p.N309S,TIA1:NM_022037:exon12:c.A1037G:p.N346S,TIA1:NM_001351508:exon13:c.A1067G:p.N356S,TIA1:NM_001351511:exon13:c.A959G:p.N320S,TIA1:NM_001351515:exon13:c.A767G:p.N256S,TIA1:NM_001351524:exon13:c.A650G:p.N217S,TIA1:NM_001351525:exon13:c.A650G:p.N217S,TIA1:NM_022173:exon13:c.A1070G:p.N357S,TIA1:NM_001351517:exon15:c.A647G:p.N216S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	433	1063	25	1	0	27	0.0125406	.	.	.	250766	TIA1-related_disorder|not_specified|Welander_distal_myopathy|Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.006793	0.002924	0.000000	0.008621	0.012195	0.018939	0.02632	1539.33	34	chr2	70212810	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.098;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.952;SOR=0.489	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1310	18	0	1	0
chr2	70816630	70816630	T	C	exonic	CLEC4F	.	nonsynonymous SNV	CLEC4F:NM_001258027:exon4:c.A751G:p.N251D,CLEC4F:NM_001321308:exon4:c.A751G:p.N251D,CLEC4F:NM_173535:exon4:c.A751G:p.N251D	.	428	1065	28	1	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0007	0.00159744	0.0029	0	0.0009	0	0.0020	0.0012	0.0077	0.0145	0.0024579	380	154602	rs62622841	0.0016	0.0016	0.0012	0.0021	0.0149	0.0016	0.0016	0.0142	0.0139	0.0002	0.0004	0.0021	2.519e-05	0.0022	0.0047	0.0007	0.0017	0.0149	0.0013	0.0013	0.0009	0.0017	0.0124	0.0011	0.0011	0.0099	0.0090	0.0002	0	0.0012	0.0037	0.0004	0.0024	0.0068	0.0010	0.0014	0.0124	0.117	0.29288	T	0.169	0.30534	T	0.061	0.23190	B	0.021	0.19346	B	0.539396	0.11553	N	0.702565	1	0.08975	N	0.445	0.12748	N	0.86	0.46777	T	-1.01	0.26639	N	0.107	0.09207	-0.9877	0.33175	T	0.112	0.40006	T	10	0.0044952333	0.00092	T	.	.	.	0.011	0.01250	.	.	0.478451964739	0.47474	0.18297663003121645	0.18216	0.0422964412412	0.04561	0.324426352978	0.14091	T	0.003951	0.03363	T	-0.58948	0.00169	T	-0.607199	0.12212	T	0.00546013592927516	0.00059	T	0.531447	0.17660	T	0.069418676	0.15208	0.056244295	0.10014	0.069418676	0.15208	0.056244295	0.10013	-5.3	0.39943	T	.	.	0.128	0.27283	B	.;.	.;.	0.514610	0.08836	5.613	0.97215028829663985	0.32874	0.05466	0.11346	N	AEFBI	0.069850	0.13844	N	-0.855892286631546	0.11906	0.5772341	-0.926100291121661	0.11479	0.5850418	7.6935927945451E-4	0.07776	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.04	1.54	0.22290	-0.027000	0.12319	-0.806000	0.07354	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.526000	0.29613	0.0:0.115:0.2154:0.6696	3.968	0.08930	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.026515	0.02632	1850.33	41	chr2	70816630	.	T	C	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=1440;ExcessHet=0;FS=3.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.015;SOR=0.981	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr2	70833960	70833960	C	T	exonic	CD207	.	nonsynonymous SNV	CD207:NM_015717:exon3:c.G251A:p.R84H	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0028	0.00379393	0.0029	0.0090	0.0010	0	0.0020	0.0011	0.0078	0.0148	0.0027619	427	154602	rs115727537	0.0017	0.0018	0.0014	0.0021	0.0144	0.0017	0.0017	0.0137	0.0134	0.0090	0.0009	0.0022	0.0001	0.0022	0.0048	0.0007	0.0023	0.0144	0.0036	0.0036	0.0033	0.0039	0.0129	0.0033	0.0032	0.0103	0.0094	0.0082	0	0.0014	0.0037	0.0006	0.0024	0.0068	0.0010	0.0024	0.0129	0.164	0.23360	T	0.103	0.38305	T	0.293	0.32367	B	0.017	0.18140	B	0.035235	0.24670	N	0.352176	0.971471	0.25651	N	1.35	0.33515	L	1.57	0.29342	T	-0.27	0.11366	N	0.12	0.11054	-1.0614	0.11410	T	0.030	0.12848	T	10	0.0052460134	0.00114	T	.	.	.	0.052	0.14661	.	.	0.252681307341	0.24864	0.13976538233500724	0.13899	0.183107272903	0.20593	0.295289248228	0.09701	T	0.05284	0.29274	T	-0.500324	0.00569	T	-0.479781	0.24468	T	0.00600929241448447	0.00066	T	0.721628	0.33490	T	0.0338815	0.03695	0.032381486	0.01966	0.028527945	0.02204	0.032973662	0.02117	-3.679	0.19008	T	.	.	0.080	0.07602	B	.	.	2.013343	0.25586	16.81	0.92125937401362568	0.21482	0.28590	0.23595	N	AEFDBI	0.077627	0.15643	N	-0.641494482600159	0.17708	0.9135327	-0.586541904374573	0.19843	1.066498	0.302758094702012	0.19205	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.77	2.9	0.32809	0.202000	0.17094	0.136000	0.15109	-0.176000	0.10722	0.199000	0.24297	0.004000	0.18990	0.973000	0.55318	0.1835:0.7182:0.0:0.0983	6.250	0.20052	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.026515	0.02632	1680.33	159	chr2	70833960	.	C	T	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=1300;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.901;SOR=0.514	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	18	0	1	0
chr2	70921196	70921196	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C346T:p.R116C	.	12	1507	2	1	0	4	0.00132538	.	.	.	2684500	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.860	0.216486708072	0.0002	.	0.0002	0	8.664e-05	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs145436494	7.938e-05	7.935e-05	6.808e-05	9.078e-05	0.0010	6.736e-05	6.269e-05	0.0005	0.0003	2.988e-05	0	3.827e-05	0	1.88e-05	0.0010	6.745e-05	9.936e-05	0.0003	9.849e-05	9.842e-05	6.424e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.001	0.83351	D	0.882	0.48483	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.97	0.96243	D	-6.0	0.89534	D	0.74	0.74007	0.988	0.96986	D	0.889	0.96322	D	10	0.8256893	0.81750	D	0.216487	0.87561	D	0.860	0.95728	.	.	0.999369179717	0.99936	0.4922512179309445	0.49146	0.308498618732	0.33160	0.528531312943	0.42827	T	0.797918	0.94816	D	0.250576	0.78655	D	0.422483	0.92825	D	0.264684487197718	0.23519	T	0.972503	0.90119	D	0.4977564	0.66963	0.4811754	0.69956	0.4977564	0.66964	0.4811754	0.69956	-11.307	0.81315	D	.	.	0.417	0.60485	A	.	.	5.450569	0.91046	32	0.99940738883005076	0.99797	0.90396	0.51538	D	AEFBI	0.592704	0.58831	D	0.541239083240704	0.69549	5.372938	0.555228828628594	0.71763	5.704477	0.999999113373154	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	2.153000	0.41907	3.931000	0.40536	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.752	0.85349	724	0.55085	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2045.33	42	chr2	70921196	.	C	T	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=900;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.439;SOR=0.538	GT:AD:DP:GQ:PL	0/1:92,79:171:99:2059,0,2389	18	0	1	0
chr2	70933146	70933146	A	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon3:c.A815T:p.Y272F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.294915890228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.939	0.52645	P	0.596	0.50617	P	0.000000	0.84330	D	0.000000	0.999653	0.48079	D	2.74	0.80084	M	-3.01	0.92208	D	-1.67	0.39887	N	0.341	0.38232	0.141	0.84897	D	0.652	0.87900	D	10	0.52339953	0.62771	D	0.294916	0.90689	D	0.654	0.86986	0.518	0.61915	0.989034557547	0.98891	0.31484867574840686	0.31397	0.208274733947	0.23301	0.533725321293	0.43560	T	0.230241	0.59627	T	0.161684	0.70356	D	-0.00552849	0.69976	D	0.969543397426605	0.68627	D	0.819918	0.47811	T	0.4256124	0.62464	0.28458568	0.54458	0.4256124	0.62464	0.28458568	0.54457	-3.556	0.17225	T	.	.	0.161	0.35540	B	.	.	3.752440	0.53796	23.4	0.9844840477754	0.41598	0.99374	0.95195	D	AEFDBI	0.896540	0.83772	D	0.239127202668127	0.53103	3.480803	0.248658837927782	0.52573	3.431294	0.99997296769031	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.06	3.91	0.44383	2.764000	0.47295	5.340000	0.48343	0.691000	0.84096	0.983000	0.35670	1.000000	0.68203	0.809000	0.38129	0.9102:0.0:0.0898:0.0	8.911	0.34711	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1765.33	126	chr2	70933146	.	A	T	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=810;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.459;SOR=0.614	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1481	18	0	1	0
chr2	70984136	70984136	-	T	exonic	ANKRD53	.	frameshift insertion	ANKRD53:NM_024933:exon6:c.918dupT:p.V307Cfs*163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3356.29	33	chr2	70984136	.	G	GT	3356.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.177;DP=855;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.92;SOR=0.625	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1483	18	0	1	0
chr2	70984617	70984617	C	G	exonic	ANKRD53	.	nonsynonymous SNV	ANKRD53:NM_001115116:exon6:c.C910G:p.H304D,ANKRD53:NM_001369683:exon6:c.C808G:p.H270D	.	425	1089	8	0	0	8	0.00365965	.	.	.	3986003	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0377383374609	7.7e-05	.	0.0002	0.0002	0.0014	0	0	3.014e-05	0	0.0002	0.0001488	23	154602	rs374591854	6.774e-05	6.772e-05	6.807e-05	6.74e-05	0.0006	5.671e-05	5.262e-05	0.0004	0.0004	0	0.0006	0	0	0	0.0002	2.968e-05	0.0001	0.0003	7.222e-05	7.217e-05	0.0001	2.685e-05	0.0003	3.968e-05	3.125e-05	0.0001	8.279e-05	2.405e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0002	0.073	0.35537	T	0.009	0.66756	D	0.808	0.45299	P	0.353	0.42910	B	0.237948	0.15775	N	0.566774	1.000	0.20292	N	1.445	0.36358	L	-0.07	0.65378	T	-1.71	0.40660	N	0.297	0.33578	-1.0280	0.21103	T	0.128	0.43564	T	10	0.025941402	0.00773	T	0.037738	0.57799	D	0.068	0.19811	.	.	0.666079160208	0.66326	0.6382441236999145	0.63758	0.982510094696	0.73790	0.345086455345	0.17195	T	0.005111	0.04549	T	-0.384933	0.02899	T	-0.416062	0.31527	T	0.0506516432817852	0.05614	T	0.593441	0.21910	T	0.08597838	0.19966	0.106225796	0.25550	0.08597838	0.19966	0.106225796	0.25549	-2.889	0.09034	T	.	.	0.305	0.53379	B	.;.	.;.	2.474242	0.31895	18.88	0.94396491718994835	0.24783	0.23567	0.22118	N	AEFDBHCI	0.123986	0.23985	N	-0.465153108125891	0.23229	1.24595	-0.542596939560754	0.21002	1.134145	0.999999924314892	0.74766	0.656854	0.48797	0	0.615948	0.52940	0	0.607795	0.38427	0	0.699908	0.69081	0	.	.	3.91	2.98	0.33575	0.470000	0.21795	2.405000	0.32612	0.596000	0.33519	0.004000	0.16614	0.990000	0.31317	0.109000	0.18697	0.0:0.8265:0.0:0.1735	5.284	0.15000	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	994.33	35	chr2	70984617	.	C	G	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.052;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.178;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr2	70993734	70993734	T	C	exonic	TEX261	.	nonsynonymous SNV	TEX261:NM_144582:exon2:c.A112G:p.T38A	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.0107827	0.0079	0.0002	0.0423	0.0302	0.0057	0.0019	0.0033	0.0021	0.0073673	1139	154602	rs151285112	0.0027	0.0027	0.0029	0.0025	0.0377	0.0026	0.0026	0.0362	0.0356	0.0003	0.0377	0.0053	0.0225	0.0057	0.0006	0.0004	0.0040	0.0017	0.0043	0.0043	0.0039	0.0048	0.0245	0.0040	0.0039	0.0220	0.0212	0.0005	0	0.0241	0.0063	0.0245	0.0043	0	0.0007	0.0090	0.0012	0.004	0.65419	D	0.009	0.72224	D	0.979	0.59044	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	.	.	.	-3.83	0.72120	D	0.785	0.78356	-0.3919	0.72282	T	0.262	0.63339	T	9	0.009312004	0.00210	T	.	.	.	0.364	0.68407	.	.	0.244539031024	0.24083	0.9567365325411059	0.95658	2.76950302636	0.98794	0.747094035149	0.74018	T	0.303789	0.67612	T	-0.0878043	0.38437	T	0.129667	0.78872	D	0.0219382681559926	0.00902	T	0.851715	0.56785	D	0.50696236	0.67502	0.340587	0.59809	0.50696236	0.67503	0.340587	0.59808	-3.864	0.21764	T	.	.	0.636	0.72332	P	.;.	.;.	4.742912	0.76508	26.5	0.99817844683714196	0.90061	0.94132	0.60209	D	AEFDBHCI	0.889863	0.82435	D	0.741130192078565	0.82326	7.735127	0.707858982232676	0.82975	7.902083	0.999999999977627	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.17	5.17	0.70848	7.280000	0.77977	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.011	0.58139	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	474.33	44	chr2	70993734	.	T	C	474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=686;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.45;SOR=0.818	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	71124406	71124406	T	G	exonic	MCEE	.	nonsynonymous SNV	MCEE:NM_032601:exon2:c.A178C:p.K60Q	Methylmalonyl-CoA epimerase deficiency, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	200013	not_provided|not_specified|Methylmalonic_acidemia_due_to_methylmalonyl-CoA_epimerase_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009615,MedGen:C1855100,OMIM:251120,Orphanet:308425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00419329	0.0021	9.771e-05	0.0002	0	0	0	0.0022	0.0154	0.0018305	283	154602	rs147401037	0.0009	0.0009	0.0005	0.0012	0.0136	0.0008	0.0008	0.0129	0.0127	2.987e-05	2.236e-05	0	2.519e-05	0	0.0019	3.597e-06	0.0010	0.0136	0.0005	0.0005	0.0002	0.0008	0.0155	0.0004	0.0004	0.0127	0.0117	4.813e-05	0	0	0	0	0	0	0	0	0.0155	0.292	0.26409	T	0.379	0.22494	T	0.031	0.20130	B	0.026	0.20792	B	0.000504	0.43753	D	0.255145	0.999996	0.58761	D	1.54	0.38927	L	-0.66	0.72348	T	-3.02	0.62630	D	0.766	0.76388	-0.7068	0.60110	T	0.258	0.62900	T	10	0.009763122	0.00219	T	.	.	.	0.302	0.62290	.	.	0.766255123119	0.76412	0.6201283003213636	0.61945	0.125120315367	0.14101	0.406165480614	0.25926	T	0.365963	0.73130	T	-0.218302	0.18224	T	-0.0740289	0.65337	T	0.0424730093951456	0.04141	T	0.984002	0.94749	D	0.51176524	0.67782	0.21203265	0.45656	0.47624975	0.65673	0.2590334	0.51645	-5.03	0.37164	T	0.13418665297687954	0.14472	0.125	0.26451	B	.;.	.;.	3.133574	0.42348	21.5	0.91110143463874482	0.20363	0.94197	0.60408	D	AEFBI	0.701608	0.65824	D	-0.322745449513777	0.28286	1.55892	-0.276118489698271	0.28886	1.61412	0.985702518430939	0.30934	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	2.77	0.31614	4.432000	0.59666	.	.	0.660000	0.55035	1.000000	0.71638	0.132000	0.23010	0.977000	0.56843	0.0:0.0:0.3094:0.6906	10.464	0.43783	871	0.31377	Glyoxalase/fosfomycin resistance/dioxygenase domain;Vicinal oxygen chelate (VOC) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1502.33	39	chr2	71124406	.	T	G	1502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.564;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.506;SOR=0.656	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr2	71149341	71149341	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon10:c.G1784A:p.R595Q	.	436	1051	32	3	0	38	0.017757	.	.	.	2811988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.020274678179	0.0022	0.00159744	0.0029	0.0002	0.0037	0.0001	0.0002	0.0039	0.0035	0.0023	0.0025873	400	154602	rs115361918	0.0020	0.0020	0.0018	0.0022	0.0426	0.0019	0.0019	0.0383	0.0366	0.0019	0.0033	0.0123	2.52e-05	0.0001	0.0426	0.0015	0.0042	0.0025	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0006	0	0.0054	0.0135	0	0	0.0238	0.0026	0.0085	0.0023	0.02	0.49613	D	0.087	0.40747	T	1.0	0.90584	D	0.977	0.73820	D	0.000011	0.62929	N	0.107790	0.999582	0.50061	D	2.755	0.80505	M	1.96	0.22270	T	-1.23	0.31170	N	0.23	0.25867	-1.1283	0.01865	T	0.086	0.33522	T	10	0.007098645	0.00161	T	0.020275	0.42842	T	0.177	0.44549	.	.	0.562875150688	0.55950	0.08509729497497982	0.08443	0.33767179458	0.35753	0.437681108713	0.30261	T	0.006553	0.05980	T	-0.418312	0.01753	T	-0.376703	0.36106	T	0.0518937704265915	0.05829	T	0.836316	0.50742	T	0.162351	0.36306	0.103670575	0.24880	0.162351	0.36306	0.103670575	0.24880	-2.975	0.09914	T	.	.	0.074	0.05103	B	.	.	4.242512	0.64330	24.7	0.99951904555326809	0.99951	0.92353	0.55515	D	AEFBI	0.614299	0.60167	D	0.399904150871398	0.61418	4.342557	0.385913687221664	0.60694	4.260069	0.685508698563358	0.22528	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.75	3.96	0.45097	3.885000	0.55896	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1346:0.0:0.8654:0.0	11.062	0.47169	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026741	0.020202	0.039402	0.038012	0.000000	0.025862	0.012346	0.000000	0.02632	831.33	35	chr2	71149341	.	G	A	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=693;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.127;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	18	0	1	0
chr2	71202556	71202556	T	A	exonic	PAIP2B	.	nonsynonymous SNV	PAIP2B:NM_020459:exon2:c.A34T:p.S12C	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	8.3e-05	0.00379393	0.0023	0	0.0002	0	0	0	0	0.0166	0.0019275	298	154602	rs375789692	0.0009	0.0009	0.0005	0.0013	0.0146	0.0009	0.0009	0.0139	0.0136	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.498e-06	0.0012	0.0146	0.0006	0.0006	0.0002	0.0009	0.0170	0.0005	0.0004	0.0140	0.0129	4.813e-05	0	0	0	0	0	0	0	0.0005	0.0170	0.005	0.63226	D	0.048	0.48594	D	0.07	0.23866	B	0.111	0.31539	B	0.003819	0.34463	N	0.340460	0.706803	0.33477	D	1.495	0.37439	L	.	.	.	-2.16	0.48850	N	0.246	0.27792	-0.5519	0.66715	T	0.203	0.55989	T	9	0.00356102	0.00064	T	.	.	.	0.080	0.23350	.	.	0.321108458156	0.31720	0.34066084109677697	0.33979	0.0678676884174	0.07595	0.307368397713	0.11508	T	0.210135	0.57054	T	-0.400008	0.02315	T	-0.334387	0.40980	T	0.0376710711402283	0.03274	T	0.687031	0.29593	T	0.13762963	0.31859	0.13585345	0.32515	0.13762963	0.31859	0.13585345	0.32514	-5.771	0.44321	T	.	.	0.069	0.02960	B	.	.	3.922039	0.57271	23.8	0.98234624693300165	0.39423	0.94687	0.61986	D	AEFBI	0.749318	0.69079	D	0.0900120035364082	0.45997	2.847098	0.215265896773462	0.50695	3.258815	0.817366273486372	0.24462	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.13	5.13	0.69729	5.209000	0.65041	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	13.182	0.59082	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2326.33	35	chr2	71202556	.	T	A	2326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=828;ExcessHet=0;FS=0.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.765;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1366	18	0	1	0
chr2	71535087	71535087	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon14:c.A1354G:p.M452V,DYSF:NM_001130976:exon14:c.A1351G:p.M451V,DYSF:NM_001130977:exon14:c.A1351G:p.M451V,DYSF:NM_001130978:exon14:c.A1351G:p.M451V,DYSF:NM_001130983:exon14:c.A1354G:p.M452V,DYSF:NM_001130984:exon14:c.A1354G:p.M452V,DYSF:NM_001130986:exon14:c.A1354G:p.M452V,DYSF:NM_003494:exon14:c.A1351G:p.M451V,DYSF:NM_001130979:exon15:c.A1444G:p.M482V,DYSF:NM_001130980:exon15:c.A1444G:p.M482V,DYSF:NM_001130981:exon15:c.A1444G:p.M482V,DYSF:NM_001130982:exon15:c.A1447G:p.M483V,DYSF:NM_001130985:exon15:c.A1447G:p.M483V,DYSF:NM_001130987:exon15:c.A1447G:p.M483V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1508	14	0	0	14	0.00462046	0.0161	0.168	.	266446	not_specified|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.0353071200105	0.0012	0.00139776	0.0013	0.0004	0.0011	0	0	0.0016	0.0022	0.0021	0.0012678	196	154602	rs141818764	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0012	0.0020	0	0	0.0012	0.0018	0.0016	0.0016	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0009	0.0013	0.0012	0.0003	0	0.0013	0.0023	0	0	0.0034	0.0015	0.0009	0.0023	0.037	0.43393	D	0.018	0.59732	D	0.001	0.35330	B	0.006	0.37080	B	0.000093	0.51296	N	0.204193	0.534562	0.33008	D	2.125	0.59049	M	-0.22	0.66474	T	-1.99	0.47175	N	0.302	0.44474	-0.7346	0.58730	T	0.135	0.44991	T	10	0.01796338	0.00387	T	0.035307	0.56258	D	0.097	0.27909	.	.	0.590700200879	0.58746	0.50391622055171	0.50313	0.152725938462	0.17232	0.393586605787	0.24173	T	0.376003	0.73949	T	-0.372563	0.03466	T	-0.321167	0.42448	T	0.028368233790925	0.01742	T	0.817418	0.51794	T	0.51351404	0.67884	0.5371858	0.73255	0.585124	0.71888	0.5802731	0.75674	-7.506	0.62033	D	0.187273842424892	0.24411	0.082	0.25882	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.221859	0.43898	21.8	0.97456062147104838	0.34058	0.92784	0.56537	D	AEFBI	0.753686	0.69379	D	-0.187677957809644	0.33646	1.911275	-0.0341875693923052	0.38181	2.245904	0.999990054801985	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.84	3.64	0.40864	4.888000	0.62855	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9117:0.0:0.0883:0.0	9.494	0.38143	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1840.33	34	chr2	71535087	.	A	G	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=826;ExcessHet=0;FS=18.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.05;SOR=1.202	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	18	0	1	0
chr2	71660585	71660585	T	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon43:c.T4778C:p.I1593T,DYSF:NM_001130986:exon43:c.T4781C:p.I1594T,DYSF:NM_001130455:exon44:c.T4823C:p.I1608T,DYSF:NM_001130977:exon44:c.T4841C:p.I1614T,DYSF:NM_001130980:exon44:c.T4871C:p.I1624T,DYSF:NM_001130984:exon44:c.T4844C:p.I1615T,DYSF:NM_001130985:exon44:c.T4874C:p.I1625T,DYSF:NM_003494:exon44:c.T4820C:p.I1607T,DYSF:NM_001130978:exon45:c.T4883C:p.I1628T,DYSF:NM_001130979:exon45:c.T4913C:p.I1638T,DYSF:NM_001130981:exon45:c.T4934C:p.I1645T,DYSF:NM_001130982:exon45:c.T4916C:p.I1639T,DYSF:NM_001130983:exon45:c.T4886C:p.I1629T,DYSF:NM_001130987:exon45:c.T4937C:p.I1646T	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	2	1484	36	0	0	36	0.011984	.	.	YES	194665	Qualitative_or_quantitative_defects_of_dysferlin|not_specified|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.363	.	0.0012	0.00319489	0.0033	9.61e-05	0.0010	0.0002	0.0005	0.0026	0.0044	0.0127	0.0029172	451	154602	rs146384562	0.0021	0.0021	0.0017	0.0024	0.0136	0.0020	0.0020	0.0129	0.0126	0.0002	0.0010	0.0017	0	0.0014	0.0064	0.0013	0.0025	0.0136	0.0017	0.0017	0.0015	0.0019	0.0151	0.0015	0.0015	0.0124	0.0113	9.622e-05	0	0.0037	0.0023	0	0.0006	0.0034	0.0016	0.0009	0.0151	0.001	0.78490	D	0.038	0.51421	D	0.0	0.17989	B	0.003	0.30579	B	0.004116	0.34102	N	0.313928	0.69987	0.33410	D	1.27	0.32069	L	-0.58	0.71425	T	-3.38	0.66780	D	0.624	0.64223	-0.4479	0.70469	T	0.221	0.58447	T	10	0.012410134	0.00267	T	.	.	.	0.363	0.68319	.	.	0.760002136387	0.75782	0.6077555353843563	0.60707	0.208774122506	0.23348	0.392420083284	0.24010	T	0.752	0.93211	D	-0.293494	0.09288	T	-0.183329	0.56213	T	0.0465958301588332	0.04891	T	0.964204	0.86724	D	0.32428068	0.54999	0.49371374	0.70717	0.46025723	0.64687	0.4232503	0.66202	-10.4	0.76271	D	0.3412174310421623	0.43894	0.139	0.33755	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.520026	0.70858	25.6	0.9956121916625863	0.71769	0.96820	0.71115	D	AEFBI	0.737569	0.68272	D	0.0548768012775958	0.44368	2.712078	0.242070305115118	0.52198	3.396399	0.999999998182358	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.135000	0.64617	.	.	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.122	0.64726	418	0.81602	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007064	0.000000	0.004076	0.020588	0.000000	0.008621	0.012346	0.000000	0.02632	1066.33	34	chr2	71660585	.	T	C	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.915;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=0.727;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	0	1	0
chr2	72135145	72135145	C	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon2:c.G479A:p.R160Q,CYP26B1:NM_019885:exon3:c.G704A:p.R235Q	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	.	.	.	.	.	.	0.9314	0.578	.	85584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0280403603893	.	.	0.0002	0	0.0002	0.0005	0	3.043e-05	0	0.0006	0.0001164	18	154602	rs267599444	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0008	0.0008	5.975e-05	0.0002	3.826e-05	0.0011	0	0.0005	8.903e-05	6.627e-05	0.0005	5.909e-05	5.905e-05	6.425e-05	5.371e-05	0.0002	3.075e-05	2.209e-05	2.847e-05	1.858e-05	2.406e-05	0	0	0	0.0002	0	0	7.35e-05	0.0005	0.0002	0.005	0.65419	D	0.007	0.69154	D	0.782	0.44333	P	0.523	0.48316	P	0.000001	0.84330	D	0.052058	0.992237	0.41590	D	1.995	0.54099	M	-0.46	0.70014	T	-1.84	0.43149	N	0.594	0.62526	-0.3757	0.72786	T	0.344	0.70891	T	10	0.3321089	0.50422	T	0.02804	0.50772	D	0.333	0.65522	0.704	0.84054	0.700872361148	0.69828	0.42148509424606795	0.42064	0.379646040224	0.39352	0.527902305126	0.42739	T	0.173131	0.52188	T	-0.220251	0.17958	T	-0.232185	0.51560	T	0.078979529440403	0.09856	T	0.90471	0.71813	D	0.5931054	0.72319	0.3605307	0.61493	0.5931054	0.72320	0.3605307	0.61492	-6.094	0.47059	T	.	.	0.120	0.27343	B	.;.;.;.	.;.;.;.	5.415668	0.90628	31	0.99946171002840412	0.99901	0.87844	0.47525	D	AEFDBI	0.673952	0.63984	D	0.422990691050206	0.62688	4.488961	0.44600377354187	0.64461	4.701765	0.999998406540271	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.03	5.03	0.67015	2.044000	0.40863	7.694000	0.65937	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.825000	0.38878	0.0:1.0:0.0:0.0	17.309	0.87091	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1505.33	36	chr2	72135145	.	C	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.593;DP=755;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.16;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr2	73088530	73088530	G	A	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon3:c.C1088T:p.P363L,RAB11FIP5:NM_015470:exon3:c.C1088T:p.P363L	.	419	1097	6	0	0	6	0.00272727	.	.	.	3308540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0202232363663	.	.	0.0002	0	8.661e-05	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs201939228	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0001	0	0	0	0.0033	9.712e-05	0.0003	0.0018	0.0001	0.0001	8.988e-05	0.0002	0.0004	8.165e-05	6.722e-05	0.0001	8.283e-05	2.411e-05	0	0.0003	0	0	0	0.0032	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.02	0.18235	B	0.012	0.16012	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	0.3	0.58755	T	-5.41	0.85176	D	0.574	0.59648	-0.5232	0.67796	T	0.284	0.65567	T	10	0.05217597	0.05212	T	0.020223	0.42769	T	0.215	0.50805	0.267	0.21418	0.612129062911	0.60900	0.49523469877638576	0.49444	0.118568909948	0.13351	0.524407625198	0.42248	T	0.177135	0.85908	T	-0.293328	0.09304	T	-0.21875	0.52857	T	0.219044134020805	0.21416	T	0.766723	0.39447	T	0.33118635	0.55568	0.3176898	0.57742	0.33118635	0.55568	0.3176898	0.57741	-2.625	0.06695	T	.	.	0.101	0.19559	B	.;.	.;.	3.619786	0.51223	23.1	0.99735094467945895	0.83047	0.95398	0.64564	D	AEFBI	0.277068	0.39166	N	-0.14979531714233	0.35243	2.021862	-0.241825825984249	0.30054	1.688906	0.999999941322968	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	4.13	3.24	0.36257	5.886000	0.69487	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0955:0.0:0.9045:0.0	10.811	0.45749	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1404.33	34	chr2	73088530	.	G	A	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.09;DP=754;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.1;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1418,0,1893	18	0	1	0
chr2	73228820	73228820	C	T	exonic	PRADC1	.	nonsynonymous SNV	PRADC1:NM_032319:exon4:c.G421A:p.A141T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0144653327034	.	.	1.69e-05	0.0001	8.804e-05	0	0	0	0	0	1.29e-05	2	154602	rs746635883	1.096e-05	1.163e-05	1.226e-05	9.637e-06	0.0004	6.49e-06	5.25e-06	6.889e-05	2.88e-05	0	4.481e-05	0	0	0	0.0004	8.097e-06	3.319e-05	1.16e-05	2.628e-05	2.627e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	.	.	2.413e-05	0	6.546e-05	0	0.0002	0	0	1.47e-05	0	0	0.006	0.61437	D	0.043	0.49942	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.86	0.49225	L	3.18	0.07478	T	-2.7	0.57599	D	0.923	0.92667	-1.1837	0.00318	T	0.060	0.25018	T	10	0.8142999	0.80683	D	0.014465	0.34608	T	0.192	0.47115	0.598	0.72862	0.483596354421	0.47990	0.7786931001856804	0.77820	0.346408278094	0.36549	0.763937711716	0.76516	T	0.048356	0.27994	T	-0.0093014	0.50363	T	-0.168272	0.57601	T	0.912294983863831	0.56815	D	0.89841	0.64469	D	0.4176021	0.61932	0.3833402	0.63300	0.4176021	0.61932	0.3833402	0.63300	-5.398	0.40900	T	.	.	0.847	0.79595	P	.	.	5.335713	0.89535	30	0.99935601615537961	0.99579	0.95225	0.63902	D	AEFDBCI	0.748205	0.69002	D	0.663448909436576	0.77243	6.637144	0.634121704464854	0.77434	6.678508	0.999999999997304	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	6.412000	0.73221	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.599	0.84659	592	0.68746	PA domain|PRADC1-like protein, PA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2641.33	36	chr2	73228820	.	C	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=818;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.585;SOR=0.559	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	73249174	73249174	A	G	exonic	CCT7	.	nonsynonymous SNV	CCT7:NM_001009570:exon3:c.A355G:p.M119V,CCT7:NM_001166284:exon6:c.A706G:p.M236V,CCT7:NM_006429:exon8:c.A967G:p.M323V,CCT7:NM_001166285:exon9:c.A835G:p.M279V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	.	0.0009	0.00339457	0.0079	0.0003	0.0002	0	0.0732	0.0063	0.0222	0.0004	0.0061772	955	154602	rs139247672	0.0036	0.0036	0.0036	0.0035	0.0007	0.0035	0.0034	0.0006	0.0006	0.0003	6.856e-05	0.0126	0	0.0707	0.0002	0.0007	0.0048	0.0004	0.0057	0.0057	0.0031	0.0083	0.0014	0.0054	0.0053	0.0012	0.0011	0.0003	0	0.0001	0.0127	0	0.0664	0	0.0014	0.0024	0.0008	0.598	0.08508	T	0.761	0.25438	T	0.004	0.12183	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	-1.11	0.77466	T	-0.29	0.14193	N	0.751	0.75559	-0.9316	0.43903	T	0.125	0.42945	T	10	0.006125331	0.00138	T	.	.	.	0.335	0.65718	.	.	0.426936546926	0.42313	0.7979695325777644	0.79749	0.471672694869	0.46430	0.682282447815	0.64596	T	0.276234	0.64881	T	-0.245972	0.14596	T	-0.125694	0.61331	T	0.0790525893353293	0.09865	T	0.872913	0.58144	D	0.20503122	0.42632	0.10082272	0.24117	0.20348373	0.42428	0.10082272	0.24116	-7.974	0.63785	D	0.2157208687744676	0.29005	0.092	0.14247	B	.;.;.;.	.;.;.;.	2.999388	0.40067	21.1	0.51586663721877868	0.04590	0.95904	0.66656	D	AEFBCI	0.951620	0.96635	D	-0.200538172552351	0.33111	1.874935	-0.00960361017426635	0.39279	2.326576	0.999993479141609	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.63	0.40741	9.053000	0.93310	8.160000	0.76734	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9158:0.0:0.0842:0.0	9.585	0.38675	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr2	73249174	.	A	G	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=685;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.19;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	587	0.69154	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.02632	978.33	33	chr2	73265335	.	G	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=711;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.8;SOR=0.525	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1283	18	0	1	0
chr2	73426482	73426482	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon6:c.G1267A:p.V423I,ALMS1:NM_015120:exon6:c.G1267A:p.V423I	Alstrom syndrome, Autosomal recessive	2	1502	17	1	0	19	0.00628515	.	.	.	238977	not_provided|Cardiovascular_phenotype|Retinal_dystrophy|Alstrom_syndrome|not_specified|Monogenic_diabetes	MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00345612667814	0.0033	0.00179712	0.0026	0.0009	0.0005	0	0.0027	0.0030	0	0.0050	0.0027167	420	154602	rs45630557	0.0040	0.0040	0.0040	0.0040	0.0054	0.0039	0.0039	0.0050	0.0048	0.0007	0.0004	0.0009	5.038e-05	0.0028	0.0017	0.0044	0.0035	0.0054	0.0029	0.0029	0.0030	0.0028	0.0064	0.0027	0.0026	0.0047	0.0041	0.0008	0	0.0007	0.0003	0	0.0037	0	0.0047	0.0024	0.0064	.	.	.	1.0	0.02459	T	0.0	0.02946	B	0.0	0.01387	B	0.747686	0.06466	N	1.155680	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	-0.9575	0.39644	T	0.026	0.11087	T	10	0.004122615	0.00081	T	0.003456	0.07786	T	.	.	.	.	0.171388866994	0.16791	0.006995272376326678	0.00666	.	.	0.252609908581	0.04047	T	0.013741	0.17914	T	-0.577617	0.00199	T	-0.598757	0.12915	T	0.00138119108586919	0.00014	T	0.568943	0.20320	T	0.0102147795	0.00006	0.023596251	0.00373	0.012878834	0.00044	0.026542263	0.00749	-3.545	0.17067	T	.	.	0.065	0.02038	B	.;.;.	.;.;.	-1.080854	0.00664	0.018	0.72303482062225	0.09926	0.00493	0.02333	N	AEFGBI	0.014563	0.00238	N	-1.60831193230195	0.01223	0.05320218	-1.59728870139726	0.01672	0.07592029	0.00646401893511308	0.11224	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.67	0.203	0.14472	-0.251000	0.08837	0.014000	0.13486	-1.554000	0.00958	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6658:0.0:0.3342:0.0	8.390	0.31685	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	973.33	35	chr2	73426482	.	G	A	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.27;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1216	18	0	1	0
chr2	73452251	73452251	G	C	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G5724C:p.Q1908H,ALMS1:NM_015120:exon8:c.G5724C:p.Q1908H	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	451652	not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00792811468091	.	.	4.983e-05	0.0001	0.0002	0	0	4.505e-05	0	0	3.88e-05	6	154602	rs779739318	2.394e-05	2.394e-05	2.723e-05	2.063e-05	0.0007	1.739e-05	1.539e-05	0.0002	0.0001	5.975e-05	2.238e-05	0	0	0	0.0007	2.428e-05	1.656e-05	0	5.258e-05	5.254e-05	7.709e-05	2.692e-05	7.349e-05	2.558e-05	1.831e-05	2.846e-05	1.858e-05	4.828e-05	0	0	0	0	0	0.0032	7.349e-05	0	0	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	0.064457	0.21952	N	0.331135	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.255	0.28849	-1.0810	0.07156	T	0.095	0.35844	T	10	0.10016468	0.18224	T	0.007928	0.21033	T	.	.	.	.	0.259272394797	0.25527	0.34008037822311404	0.33921	.	.	0.307304024696	0.11499	T	0.160189	0.50393	T	-0.240916	0.15232	T	-0.402307	0.33116	T	0.18764542122584	0.19704	T	0.742826	0.36203	T	0.041562658	0.06142	0.06966087	0.14704	0.041562658	0.06142	0.06966087	0.14704	-7.021	0.54187	T	0.2178741884745096	0.29329	0.300	0.53017	B	.;.;.	.;.;.	2.118062	0.26958	17.30	0.99612158162997044	0.74873	0.09412	0.15173	N	AEFGBI	0.036443	0.04857	N	-0.144318066158557	0.35478	2.038267	-0.331522703112259	0.27087	1.500596	0.99643866173959	0.34743	0.706548	0.73137	0	0.633563	0.54681	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.13	1.37	0.21200	0.419000	0.20967	-2.522000	0.03652	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.977000	0.56843	0.3175:0.0:0.6825:0.0	6.091	0.19219	492	0.76569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1971.33	118	chr2	73452251	.	G	C	1971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.232;DP=1180;ExcessHet=0;FS=10.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.29;SOR=0.339	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	73701287	73701287	G	A	exonic	NAT8B	.	unknown	UNKNOWN	.	422	1082	17	1	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00499201	0.0042	0.0010	0.0030	0.0067	0.0006	0.0048	0	0.0051	0.0042302	654	154602	rs116094901	0.0057	0.0057	0.0058	0.0056	0.0104	0.0056	0.0055	0.0096	0.0092	0.0010	0.0024	0.0071	0.0104	0.0003	0.0085	0.0061	0.0067	0.0036	0.0038	0.0038	0.0042	0.0034	0.0095	0.0035	0.0034	0.0074	0.0066	0.0012	0	0.0026	0.0086	0.0095	9.411e-05	0.0034	0.0056	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.008621	0.012195	0.007576	0.07895	6212.77	159	chr2	73701287	.	G	A	6212.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.79;DP=984;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.817;SOR=0.722	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	17	1	1	0
chr2	73732634	73732634	G	A	exonic	TPRKB	.	nonsynonymous SNV	TPRKB:NM_001330386:exon3:c.C208T:p.R70W,TPRKB:NM_001330387:exon3:c.C208T:p.R70W,TPRKB:NM_001330390:exon3:c.C37T:p.R13W	.	20	205	1	0	0	1	0.00243309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000331150023714	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919434439	5.821e-05	4.417e-05	0	0.0001	0.0004	9.64e-06	3.61e-06	6.801e-05	2.847e-05	0	0	0	0	0	0	0	0	0.0004	3.293e-05	3.285e-05	3.861e-05	2.697e-05	6.56e-05	1.263e-05	8e-06	8.02e-06	3e-06	4.84e-05	0	6.56e-05	0	0	0	0	2.942e-05	0	0	0.0	0.91255	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32482	T	0.13	0.05503	N	0.106	0.09066	-1.0174	0.24560	T	0.051	0.21495	T	5	0.027290463	0.00878	T	3.31E-4	0.00035	T	0.009	0.00846	0.403	0.43408	0.148003135375	0.14442	0.28874499137148296	0.28787	.	.	.	.	.	.	.	.	-0.593562	0.00159	T	-0.630625	0.10368	T	0.0181707042992216	0.00538	T	0.805019	0.45286	T	.	.	.	.	.	.	.	.	-4.745	0.33944	T	.	.	0.129	0.27642	B	.;.	.;.	-0.242676	0.02879	0.410	0.51896775924368732	0.04647	0.00032	0.00291	N	AEFBI	0.036489	0.04869	N	-1.18502759477639	0.05227	0.2377486	-1.43133479389043	0.02943	0.1363706	0.0177920900300238	0.12990	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	0.131	-0.261	0.12322	-0.937000	0.04051	-0.889000	0.07035	-0.825000	0.02924	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	.	.	.	394	0.83065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	317.42	14	chr2	73732634	.	G	A	317.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=282;ExcessHet=0;FS=7.908;InbreedingCoeff=-0.0324;MLEAC=1;MLEAF=0.026;MQ=58.84;MQRankSum=1.19;QD=14.43;ReadPosRankSum=0.363;SOR=0.069	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	18	0	1	0
chr2	73784343	73784343	G	A	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon1:c.G34A:p.A12T	.	628	884	8	2	0	12	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000846598976948	.	.	0	0	.	.	.	0	.	.	6.47e-05	10	154602	rs763969172	0.0016	0.0014	0.0009	0.0023	0.0186	0.0016	0.0015	0.0178	0.0175	0.0002	0.0004	8.669e-05	0	5.959e-05	0.0029	0.0004	0.0012	0.0186	0.0008	0.0008	0.0006	0.0011	0.0155	0.0007	0.0007	0.0126	0.0116	4.914e-05	0	0.0005	0	0	0	0.0068	0.0006	0.0010	0.0155	0.621	0.05293	T	1.0	0.01155	T	0.331	0.33259	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	0.88	0.01664	N	0.032	0.00825	-1.0002	0.29860	T	0.022	0.09421	T	8	0.0033150315	0.00057	T	8.47E-4	0.00734	T	0.026	0.05648	0.142	0.04556	0.0806252709748	0.07271	0.0034152991731072188	0.00319	0.0643857280339	0.07174	.	.	.	0.013262	0.11507	T	-0.651193	0.00071	T	-0.691913	0.06280	T	0.0201953202878348	0.00719	T	0.386161	0.09499	T	0.017668607	0.00292	0.04122659	0.04637	0.017668607	0.00292	0.04122659	0.04637	-3.259	0.13214	T	.	.	0.08	0.07793	B	.	.	0.294376	0.06705	3.211	0.64985530446057449	0.07645	0.00366	0.01868	N	AEFI	0.021671	0.00992	N	-1.3769359367759	0.02855	0.126686	-1.37359659550125	0.03535	0.1651233	0.940112614179508	0.27418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	1.72	0.23498	0.044000	0.13876	0.604000	0.19959	-0.585000	0.04679	0.002000	0.15269	0.001000	0.17328	0.085000	0.17524	0.0:0.0:0.2736:0.7264	6.092	0.19222	392	0.83172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	66.73	17	chr2	73784343	.	G	A	66.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.812;DP=275;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.0426;MLEAC=1;MLEAF=0.028;MQ=36.77;MQRankSum=-0.601;QD=7.41;ReadPosRankSum=0.12;SOR=1.911	GT:AD:DP:GQ:PL	0/0:8,0:8:21:0,21,315	17	0	1	1
chr2	73816730	73816730	G	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon3:c.G2507C:p.R836P,C2orf78:NM_001353344:exon3:c.G2507C:p.R836P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00491138453729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.46	0.12597	T	0.195	0.29512	B	0.095	0.30245	B	0.297965	0.03936	N	1.732830	1	0.08975	N	-0.205	0.04094	N	1.0	0.41392	T	1.17	0.01121	N	0.121	0.11197	-1.0270	0.21429	T	0.029	0.12365	T	10	0.034401357	0.01648	T	0.004911	0.12349	T	0.052	0.14661	0.304	0.27325	0.117506650769	0.11410	0.0397730886058929	0.03923	0.127572063365	0.14372	.	.	.	0.012526	0.10994	T	-0.234935	0.16001	T	-0.575245	0.14972	T	0.114306904639911	0.13864	T	0.252475	0.03851	T	0.076651715	0.17349	0.09693446	0.23053	0.076651715	0.17349	0.09693446	0.23052	-0.484	0.00574	T	.	.	0.097	0.16010	B	.	.	-0.026197	0.04105	0.968	0.14365890704111181	0.00314	0.02797	0.07515	N	AEFBI	0.058567	0.10997	N	-1.76342496438241	0.00641	0.02764354	-1.72442710464585	0.01034	0.04636498	3.61905624874092E-5	0.03775	0.446893	0.09132	0	0.547309	0.14657	0	0.55458	0.18720	0	0.530356	0.10902	0	.	.	5.35	-3.06	0.05053	-0.291000	0.08379	-0.016000	0.12991	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.0:0.3371:0.2893	3.603	0.07576	403	0.82567	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2072.33	35	chr2	73816730	.	G	C	2072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.969;DP=840;ExcessHet=0;FS=6.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.64;SOR=0.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	18	0	1	0
chr2	74214154	74214154	A	G	exonic	MTHFD2	.	nonsynonymous SNV	MTHFD2:NM_006636:exon8:c.A965G:p.K322R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0238913277298	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs772259335	2.189e-05	2.189e-05	1.089e-05	3.3e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0001	0	0	0	0	0	0.0003	3.597e-06	6.624e-05	0.0003	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.084	0.32929	T	0.102	0.38450	T	0.151	0.33382	B	0.232	0.42645	B	0.000000	0.84330	D	0.043429	1	0.81001	D	0.785	0.19527	N	0.39	0.57419	T	-1.64	0.42575	N	0.348	0.39659	-0.8857	0.49299	T	0.158	0.49060	T	10	0.3629901	0.52880	T	0.023891	0.46868	T	0.173	0.43840	0.485	0.56780	0.645281600169	0.64234	0.5307383535676192	0.52997	0.534655600941	0.50860	0.694038927555	0.66285	T	0.355804	0.72275	T	-0.113256	0.34232	T	-0.104268	0.63065	T	0.271120045682065	0.23795	T	0.968703	0.88660	D	0.34632167	0.56779	0.3968095	0.64312	0.34632167	0.56779	0.3968095	0.64312	-8.711	0.65818	D	.	.	0.097	0.29116	B	.;.;.	.;.;.	3.965832	0.58200	23.9	0.99870926346260358	0.94815	0.96025	0.67194	D	AEFGBCI	0.870586	0.79162	D	0.204260510322793	0.51404	3.322033	0.364433585355289	0.59383	4.115543	0.999992073027151	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.141000	0.76920	8.150000	0.76709	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.016	0.64040	715	0.56137	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain;Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1911.81	35	chr2	74214154	.	A	G	1911.81	.	AC=2;AF=0.053;AN=38;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.86;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1025	18	1	0	0
chr2	74252252	74252252	C	T	exonic	SLC4A5	.	nonsynonymous SNV	SLC4A5:NM_021196:exon11:c.G1405A:p.G469R,SLC4A5:NM_133478:exon16:c.G1405A:p.G469R	.	417	1101	4	0	0	4	0.00181324	.	.	.	3211296	SLC4A5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.358	0.628688771126	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0003	0.0024	0.0077	0.001009	156	154602	rs142491962	0.0006	0.0006	0.0004	0.0009	0.0065	0.0006	0.0006	0.0061	0.0059	2.994e-05	0.0005	7.701e-05	7.588e-05	0	0.0014	0.0002	0.0008	0.0065	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0002	0.0050	0.0044	7.224e-05	0	0.0001	0	0	0	0	0.0002	0.0009	0.0068	0.29	0.23360	T	0.068	0.45530	T	0.998	0.73220	D	0.866	0.68536	P	0.004959	0.33236	N	0.138350	0.999992	0.18878	N	0.55	0.14455	N	-5.06	0.98629	D	-0.85	0.23156	N	0.386	0.45615	0.722	0.93444	D	0.931	0.97719	D	10	0.009356618	0.00211	T	0.628689	0.96805	D	0.358	0.67872	0.37	0.38013	0.781510581047	0.77949	0.5879902588108937	0.58729	0.920462800593	0.71423	0.632985413074	0.57568	T	0.076817	0.35509	T	-0.194949	0.21536	T	-0.0493604	0.67066	D	0.0419302150721655	0.04043	T	0.921408	0.71494	D	0.13031532	0.30411	0.09011922	0.21114	0.13031532	0.30411	0.09011922	0.21113	-8.402	0.63778	D	.	.	0.237	0.50545	B	.;.;.;.;.;.	.;.;.;.;.;.	2.748800	0.36020	20.1	0.99691542547096901	0.79977	0.07022	0.13048	N	AEFBI	0.108893	0.21647	N	-0.113585061955255	0.36801	2.132124	-0.219462602300922	0.30838	1.739853	0.997153917230822	0.35326	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	1.674000	0.37160	2.807000	0.34886	0.589000	0.31548	0.007000	0.17678	0.935000	0.28640	0.018000	0.11154	0.0:1.0:0.0:0.0	16.487	0.84031	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001036	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1356.33	35	chr2	74252252	.	C	T	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=730;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.187;SOR=0.552	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	74371596	74371596	T	C	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135041:exon3:c.A184G:p.I62V,DCTN1:NM_023019:exon3:c.A184G:p.I62V,DCTN1:NM_001135040:exon5:c.A526G:p.I176V,DCTN1:NM_001190836:exon5:c.A475G:p.I159V,DCTN1:NM_001190837:exon7:c.A565G:p.I189V,DCTN1:NM_001378992:exon7:c.A517G:p.I173V,DCTN1:NM_001378991:exon8:c.A535G:p.I179V,DCTN1:NM_004082:exon8:c.A586G:p.I196V	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	.	288008	Neuronopathy,_distal_hereditary_motor,_type_7B|Perry_syndrome|Amyotrophic_lateral_sclerosis_type_1|not_specified|Amyotrophic_lateral_sclerosis|not_provided	MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	.	0.0055	0.00319489	0.0080	0.0009	0.0116	0	0.0075	0.0136	0.0068	0.0009	0.0036157	559	154602	rs55862001	0.0063	0.0063	0.0064	0.0062	0.0070	0.0062	0.0062	0.0069	0.0068	0.0007	0.0045	0.0202	0	0.0014	0.0039	0.0070	0.0077	0.0009	0.0045	0.0045	0.0052	0.0037	0.0067	0.0042	0.0041	0.0062	0.0060	0.0012	0.0033	0.0033	0.0231	0	0.0027	0.0034	0.0067	0.0038	0.0010	0.535	0.11807	T	0.814	0.05602	T	0.001	0.09854	B	0.002	0.10090	B	0.000485	0.43931	D	0.000000	0.999431	0.51308	D	0.755	0.19153	N	-0.55	0.76948	T	0.2	0.05706	N	0.322	0.37613	-0.8590	0.51334	T	0.163	0.49881	T	10	0.0054398477	0.00120	T	.	.	.	0.107	0.30369	.	.	0.753781183419	0.75155	0.1600682663228829	0.15927	0.485480497904	0.47424	0.778232097626	0.78662	T	0.064877	0.32546	T	-0.372237	0.03483	T	-0.304719	0.44223	T	0.00745671852347459	0.00086	T	0.80082	0.44648	T	0.023740001	0.01140	0.038885724	0.03856	0.028419433	0.02176	0.038055927	0.03590	-2.372	0.05295	T	.	.	0.082	0.23779	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.139822	0.42460	21.5	0.97383848228949832	0.33686	0.92591	0.56072	D	AEFBI	0.484785	0.52466	N	-0.190991738788671	0.33509	1.901844	0.0435966184303226	0.41763	2.514535	0.999331724331915	0.39185	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.500000	0.60108	6.124000	0.53825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0819:0.0:0.9181	9.466	0.37978	546	0.72524	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005612	0.021277	0.005450	0.002941	0.000000	0.000000	0.003165	0.003817	0.02632	1439.33	34	chr2	74371596	.	T	C	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=753;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.68;SOR=0.915	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	18	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N,C2orf81:NM_001316764:exon2:c.G172A:p.D58N	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023810	0.010638	0.000000	0.012605	0.000000	0.000000	0.075269	0.023810	0.02632	1957.33	38	chr2	74416088	.	C	T	1957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.249;DP=804;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.202;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	18	0	1	0
chr2	74482155	74482155	C	A	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon1:c.G683T:p.R228L,CCDC142:NM_032779:exon1:c.G683T:p.R228L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.372759537932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.993	0.65571	D	0.902	0.64047	P	0.023769	0.26381	N	0.281727	0.506842	0.31680	N	2.05	0.56469	M	-1.9	0.84628	D	-3.55	0.68764	D	0.52	0.56317	0.357	0.88451	D	0.650	0.87788	D	10	0.74329495	0.75110	D	0.37276	0.92786	D	0.506	0.78724	0.45	0.51121	0.882986942167	0.88183	0.41730312027128497	0.41646	1.63092040909	0.89220	0.589915752411	0.51482	T	0.082566	0.36857	T	0.18438	0.72445	D	0.0270728	0.72088	D	0.976729273796082	0.71511	D	0.814719	0.46890	T	0.2817774	0.51219	0.34026957	0.59781	0.2817774	0.51219	0.34026957	0.59780	-3.103	0.11330	T	.	.	0.152	0.34227	B	.;.	.;.	4.025229	0.59480	24.1	0.9976381379179714	0.85254	0.50406	0.28655	D	ALL	0.283999	0.39697	N	0.504485776022766	0.67354	5.070537	0.441328031013534	0.64162	4.665146	0.999999979620124	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.4	3.51	0.39297	1.113000	0.30798	0.782000	0.21490	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.671000	0.33280	0.0:0.8858:0.0:0.1142	7.542	0.26911	521	0.74284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1680.33	34	chr2	74482155	.	C	A	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.47;DP=783;ExcessHet=0;FS=3.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.026;SOR=0.879	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	18	0	1	0
chr2	74491141	74491141	G	A	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon4:c.G44A:p.R15Q,TTC31:NM_001376134:exon5:c.G347A:p.R116Q,TTC31:NM_001376135:exon5:c.G347A:p.R116Q,TTC31:NM_001376138:exon5:c.G128A:p.R43Q,TTC31:NM_001376139:exon5:c.G128A:p.R43Q,TTC31:NM_001376140:exon5:c.G128A:p.R43Q,TTC31:NM_001376141:exon5:c.G128A:p.R43Q,TTC31:NM_001376145:exon5:c.G128A:p.R43Q,TTC31:NM_001376129:exon6:c.G560A:p.R187Q,TTC31:NM_001376130:exon6:c.G560A:p.R187Q,TTC31:NM_001376132:exon6:c.G560A:p.R187Q,TTC31:NM_001376133:exon6:c.G560A:p.R187Q,TTC31:NM_001376136:exon6:c.G560A:p.R187Q,TTC31:NM_001376137:exon6:c.G560A:p.R187Q,TTC31:NM_022492:exon6:c.G560A:p.R187Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0385636800635	.	0.000599042	0.0002	0	0	0	0.0002	4.495e-05	0.0011	0.0010	0.0001746	27	154602	rs559169951	0.0001	0.0001	8.44e-05	0.0001	0.0012	9.805e-05	9.221e-05	0.0010	0.0010	2.987e-05	0	0	0	0.0004	0.0003	2.698e-05	6.623e-05	0.0012	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0.0004	0	2.94e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.89	0.48942	P	0.082	0.29098	B	0.471275	0.12275	N	0.733823	1	0.08975	N	1.1	0.28011	L	1.0	0.79072	T	-2.77	0.58733	D	0.525	0.57946	-0.5368	0.67285	T	0.508	0.81503	D	10	0.013127476	0.00280	T	0.038564	0.58299	D	0.229	0.52916	.	.	0.809627414608	0.80784	0.13045283044747077	0.12970	0.496165126897	0.48136	0.336551964283	0.15921	T	0.157879	0.50067	T	-0.221575	0.17779	T	-0.141495	0.59988	T	0.141398834877578	0.16395	T	0.865313	0.57956	D	0.12774141	0.29885	0.1623589	0.37718	0.12774141	0.29885	0.1623589	0.37717	-8.542	0.65222	D	.	.	0.325	0.54854	B	.;.;.	.;.;.	3.699337	0.52748	23.3	0.99867753839276596	0.94547	0.14892	0.18639	N	AEFGBI	0.060749	0.11567	N	-0.135957378160356	0.35833	2.063373	-0.245115895776798	0.29939	1.681536	0.998582504176612	0.37247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	2.04	0.25787	1.562000	0.35961	2.927000	0.35595	0.676000	0.76740	0.437000	0.26463	0.630000	0.25861	0.993000	0.69303	0.2341:0.0:0.7659:0.0	5.988	0.18674	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1384.33	33	chr2	74491141	.	G	A	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=733;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.28;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1378	18	0	1	0
chr2	74532698	74532698	G	A	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_013247:exon7:c.G1195A:p.G399S	3-methylglutaconic aciduria, type VIII, Autosomal recessive	1	1493	26	2	0	30	0.00994695	.	.	.	19380	not_provided|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.788	.	0.0034	0.00359425	0.0044	0.0006	0.0016	0	0.0002	0.0040	0.0044	0.0144	0.0040685	629	154602	rs72470545	0.0040	0.0040	0.0035	0.0044	0.0145	0.0039	0.0038	0.0138	0.0135	0.0007	0.0016	0.0033	5.038e-05	0.0001	0.0080	0.0037	0.0037	0.0145	0.0027	0.0027	0.0025	0.0028	0.0129	0.0024	0.0024	0.0103	0.0094	0.0007	0.0022	0.0019	0.0043	0	9.423e-05	0.0204	0.0038	0.0024	0.0129	0.02	0.49613	D	0.021	0.58089	D	0.986	0.61523	D	0.936	0.67150	D	0.000014	0.62929	D	0.113567	0.999998	0.81001	A	2.31	0.66127	M	-1.95	0.85003	D	-2.13	0.48354	N	0.304	0.34336	0.540	0.91096	D	0.629	0.86985	D	9	0.009953827	0.00223	T	.	.	.	0.788	0.92988	.	.	0.93517315524	0.93450	0.7741013277673383	0.77360	1.36314406624	0.84392	0.395702064037	0.24471	T	0.329495	0.69979	T	-0.107422	0.35194	T	0.0845964	0.75886	D	0.0282974163263637	0.01731	T	0.940906	0.77861	D	0.41837454	0.61984	0.33673406	0.59472	0.41891634	0.62019	0.38411376	0.63359	-8.881	0.66927	D	0.3577732525459057	0.45448	0.263	0.49797	B	.	.	4.882135	0.80076	27.2	0.99865328837292089	0.94366	0.93935	0.59619	D	AEFBHCI	0.871255	0.79257	D	0.625185260027072	0.74771	6.189748	0.564910731327461	0.72443	5.810319	0.99999999520885	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	3.99	0.45527	4.924000	0.63118	10.013000	0.83102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0932:0.0:0.9068:0.0	10.694	0.45085	189	0.92630	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.015152	0.001359	0.005848	0.000000	0.000000	0.003049	0.022727	0.02632	1850.33	33	chr2	74532698	.	G	A	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=762;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.21;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	18	0	1	0
chr2	74607100	74607100	C	G	exonic	M1AP	.	nonsynonymous SNV	M1AP:NM_001281295:exon4:c.G550C:p.E184Q,M1AP:NM_001281296:exon4:c.G550C:p.E184Q,M1AP:NM_001321739:exon4:c.G550C:p.E184Q,M1AP:NM_138804:exon4:c.G550C:p.E184Q	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00993059038475	7.7e-05	0.000199681	0.0007	0	8.639e-05	0	0	0.0002	0.0044	0.0042	0.0005757	89	154602	rs150883431	0.0003	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0031	0.0030	2.987e-05	0.0002	0.0015	0	0	0.0010	0.0001	0.0005	0.0035	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	6.535e-05	0.0029	0	0	0	0.0001	0	0.0019	0.241	0.17643	T	0.294	0.20877	T	0.074	0.24142	B	0.047	0.24832	B	0.006753	0.31824	N	0.342331	0.906761	0.36307	D	1.54	0.38927	L	0.86	0.46777	T	-0.75	0.21003	N	0.092	0.07262	-0.9681	0.37592	T	0.111	0.39770	T	10	0.0033352673	0.00058	T	0.009931	0.25856	T	0.018	0.03083	.	.	0.0297737177859	0.01360	0.21449906498807306	0.21365	0.145960491873	0.16482	0.443019837141	0.30990	T	0.039984	0.25376	T	-0.545003	0.00313	T	-0.558057	0.16560	T	0.0245947352141074	0.01220	T	0.634137	0.24845	T	0.1607327	0.36035	0.078706495	0.17653	0.1607327	0.36035	0.078706495	0.17653	-3.903	0.22348	T	.	.	0.087	0.13503	B	.;.;.	.;.;.	1.545392	0.19810	14.45	0.95183297831523217	0.26355	0.20704	0.21138	N	AEFDBI	0.183945	0.31127	N	-0.49273990470945	0.22318	1.190885	-0.437810960284965	0.23896	1.305634	0.989181179697631	0.31747	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.76	4.88	0.63131	1.263000	0.32606	3.269000	0.37146	0.544000	0.25403	0.012000	0.18695	0.151000	0.23179	0.632000	0.32210	0.0:0.8383:0.1617:0.0	12.978	0.57951	130	0.94779	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2359.33	36	chr2	74607100	.	C	G	2359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=797;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.041;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1332	18	0	1	0
chr2	74880489	74880489	G	A	exonic	HK2	.	nonsynonymous SNV	HK2:NM_000189:exon10:c.G1490A:p.R497Q,HK2:NM_001371525:exon10:c.G1406A:p.R469Q	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.644	0.067500261838	0.0006	0.000599042	0.0004	9.733e-05	0.0010	0.0001	0	0.0005	0.0011	6.07e-05	0.0004334	67	154602	rs145124653	0.0004	0.0004	0.0004	0.0005	0.0047	0.0004	0.0004	0.0033	0.0028	8.961e-05	0.0017	0	7.557e-05	1.872e-05	0.0047	0.0004	0.0008	0.0002	0.0010	0.0010	0.0006	0.0013	0.0058	0.0008	0.0008	0.0048	0.0045	7.218e-05	0	0.0058	0	0.0004	0	0.0068	0.0007	0.0009	0.0006	0.148	0.25154	T	0.344	0.20293	T	0.914	0.50529	P	0.254	0.39164	B	0.064231	0.21967	N	0.471570	0.833207	0.34950	D	1.355	0.33814	L	-4.81	0.98183	D	-1.38	0.35399	N	0.601	0.69562	0.572	0.91535	D	0.842	0.94736	D	10	0.037165135	0.02055	T	0.068	0.70184	D	0.644	0.86485	.	.	0.901481142098	0.90050	0.2959695514716237	0.29509	0.477027003376	0.46822	0.228934794664	0.01890	T	0.451168	0.79200	T	-0.146906	0.28798	T	0.00893949	0.70914	D	0.0240572653782406	0.01152	T	0.840516	0.51562	T	0.09092838	0.21293	0.089599505	0.20960	0.09092838	0.21293	0.089599505	0.20960	-5.933	0.45716	T	.	.	0.085	0.13221	B	.;.	.;.	2.390499	0.30700	18.52	0.9936598019286732	0.61240	0.36220	0.25483	N	AEFBCI	0.223826	0.34814	N	-0.389745419070266	0.25834	1.405318	-0.456308927691798	0.23369	1.274108	0.997446584822794	0.35625	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	0.948	0.18685	-0.202000	0.09453	1.006000	0.23296	0.676000	0.76740	0.000000	0.06391	0.020000	0.20764	0.975000	0.56047	0.3937:0.0:0.6063:0.0	8.016	0.29541	236	0.90801	Hexokinase, N-terminal;Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1303.33	34	chr2	74880489	.	G	A	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=751;ExcessHet=0;FS=1.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.638;SOR=0.536	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1358	18	0	1	0
chr2	75652233	75652233	G	A	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon3:c.G313A:p.V105I	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0066	0.00698882	0.0064	0.0015	0.0051	0	0.0038	0.0089	0.0067	0.0050	0.0067205	1039	154602	rs41382847	0.0078	0.0079	0.0077	0.0078	0.0135	0.0076	0.0076	0.0110	0.0101	0.0015	0.0069	0.0156	7.605e-05	0.0035	0.0135	0.0084	0.0089	0.0051	0.0072	0.0072	0.0072	0.0071	0.0106	0.0068	0.0067	0.0093	0.0088	0.0019	0.0648	0.0106	0.0173	0	0.0035	0.0238	0.0092	0.0118	0.0077	0.337	0.12837	T	0.609	0.18232	T	0.049	0.22227	B	0.139	0.33484	B	0.005705	0.32572	N	0.350899	0.820154	0.34764	D	2.215	0.62545	M	.	.	.	-0.62	0.18248	N	0.131	0.13341	-0.9021	0.47771	T	0.160	0.49497	T	9	0.0036410093	0.00067	T	.	.	.	0.093	0.26882	.	.	0.388970301349	0.38507	0.38865756458208917	0.38780	0.124701401956	0.14047	0.263330161572	0.05293	T	0.02843	0.20599	T	-0.562607	0.00245	T	-0.574808	0.15011	T	0.0129354608994399	0.00223	T	0.846715	0.52677	T	0.061409265	0.12713	0.058713328	0.10896	0.061409265	0.12713	0.058713328	0.10895	-4.238	0.27298	T	.	.	0.071	0.08802	B	.;.;.;.	.;.;.;.	1.401483	0.18154	13.58	0.88444799273911778	0.17982	0.87846	0.47528	D	AEFBI	0.224617	0.34882	N	-0.429890856278066	0.24428	1.318859	-0.37311085757294	0.25802	1.421183	0.988494046095323	0.31535	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.85	-0.463	0.11557	2.128000	0.41668	0.714000	0.20960	-0.113000	0.14837	1.000000	0.71638	0.981000	0.30433	0.996000	0.76049	0.3156:0.0:0.6844:0.0	10.753	0.45421	958	0.09170	.;.;.;.	RP11-342K6.2|MRPL19	Muscle_Skeletal|Nerve_Tibial	GCFC2	Brain_Nucleus_accumbens_basal_ganglia	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.020408	0.016304	0.008772	0.050000	0.017241	0.012195	0.015152	0.02632	326.33	34	chr2	75652233	.	G	A	326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.514;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=-0.022;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	18	0	1	0
chr2	75652630	75652630	A	G	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon4:c.A448G:p.I150V	.	424	1082	15	1	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00150728751698	0.0006	0.000399361	0.0010	0	0	0	0	0.0008	0.0011	0.0037	0.0007956	123	154602	rs202085777	0.0005	0.0005	0.0004	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	2.992e-05	8.97e-05	0.0052	0	0	0.0099	0.0001	0.0010	0.0036	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	0	0	0.0001	0.0040	0	0	0.0068	0.0004	0.0014	0.0041	0.434	0.09430	T	0.59	0.14116	T	0.002	0.09854	B	0.006	0.12133	B	0.001308	0.39449	N	0.282844	0.836738	0.28686	N	-0.46	0.02758	N	.	.	.	0.05	0.06369	N	0.143	0.14338	-1.0548	0.13093	T	0.044	0.19111	T	9	0.011534005	0.00252	T	0.001507	0.02343	T	0.090	0.26093	.	.	0.387529464389	0.38369	0.2683027445148386	0.26743	0.0845685799742	0.09552	0.346059650183	0.17341	T	0.037281	0.24416	T	-0.521622	0.00431	T	-0.52384	0.19907	T	0.0326717347152332	0.02417	T	0.864914	0.56300	D	0.041503947	0.06125	0.037506916	0.03419	0.041503947	0.06125	0.037506916	0.03419	-2.545	0.06097	T	.	.	0.083	0.22680	B	.;.;.;.	.;.;.;.	1.509514	0.19395	14.24	0.85466671940532013	0.15910	0.78000	0.38420	D	AEFBI	0.273080	0.38856	N	-0.419855350779655	0.24774	1.340048	-0.207521615844711	0.31264	1.767763	0.99990500929393	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.1	0.47196	4.899000	0.62932	4.355000	0.43100	0.756000	0.94297	1.000000	0.71638	0.159000	0.23246	0.544000	0.30032	0.7719:0.0:0.2281:0.0	4.733	0.12354	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.005051	0.004076	0.026316	0.000000	0.000000	0.003049	0.007634	0.02632	1669.33	33	chr2	75652630	.	A	G	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=770;ExcessHet=0;FS=3.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.348;SOR=0.452	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	75687859	75687859	A	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon11:c.T1151A:p.I384N,GCFC2:NM_003203:exon11:c.T1658A:p.I553N	.	433	1059	29	1	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0065	0.00439297	0.0090	0.0011	0.0022	0	0.0210	0.0110	0.0110	0.0106	0.0085575	1323	154602	rs41286003	0.0089	0.0089	0.0086	0.0092	0.0221	0.0088	0.0087	0.0190	0.0178	0.0008	0.0033	0.0459	5.053e-05	0.0196	0.0221	0.0080	0.0095	0.0119	0.0080	0.0080	0.0072	0.0088	0.0118	0.0076	0.0075	0.0093	0.0085	0.0013	0.0011	0.0046	0.0556	0	0.0212	0.0136	0.0088	0.0071	0.0118	0.0	0.91255	D	0.001	0.83351	D	0.963	0.55692	D	0.837	0.59984	P	0.247990	0.15570	N	0.649855	0.707577	0.81001	D	1.76	0.45711	L	0.43	0.56772	T	-5.17	0.84105	D	0.674	0.68169	-1.0069	0.27881	T	0.111	0.39912	T	10	0.010547429	0.00234	T	.	.	.	0.444	0.74657	.	.	0.804346720858	0.80252	0.6978294067936864	0.69723	0.557126499698	0.52338	0.35052549839	0.17998	T	0.282542	0.65529	T	-0.324844	0.06509	T	-0.229997	0.51771	T	0.0485459195345418	0.05241	T	0.884012	0.60664	D	0.7522641	0.81000	0.8183412	0.89433	0.7522641	0.81002	0.8183412	0.89433	-11.018	0.79757	D	.	.	0.500	0.64970	A	.;.	.;.	3.175650	0.43089	21.7	0.9913156376359108	0.53275	0.94369	0.60946	D	AEFBI	0.322456	0.42494	N	0.115307806236015	0.47176	2.947072	0.153225531536175	0.47312	2.963415	0.98693433088627	0.31153	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	4.136000	0.57766	6.698000	0.56362	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	14.230	0.65432	951	0.11083	GC-rich sequence DNA-binding factor-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.010101	0.009511	0.032164	0.050000	0.000000	0.009146	0.022727	0.02632	1332.33	34	chr2	75687859	.	A	T	1332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.38;DP=741;ExcessHet=0;FS=7.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.701;SOR=1.27	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1417	18	0	1	0
chr2	75689214	75689214	G	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon10:c.C844A:p.Q282K,GCFC2:NM_003203:exon10:c.C1351A:p.Q451K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00321354024211	.	0.000399361	9.148e-05	0	0	0.0012	0	1.511e-05	0	0	8.41e-05	13	154602	rs187749452	9.14e-06	1.642e-05	9.821e-06	8.457e-06	0.0002	5.1e-06	3.93e-06	0.0001	8.856e-05	0	0	0	0.0002	0	0	0	0	4.781e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.858	0.02684	T	0.188	0.28669	T	0.027	0.19556	B	0.012	0.16012	B	0.088765	0.20463	N	0.523932	0.999268	0.23357	N	0.84	0.21119	L	2.62	0.12988	T	-0.36	0.13035	N	0.181	0.24260	-0.9610	0.38993	T	0.020	0.08453	T	10	0.012213767	0.00263	T	0.003214	0.07057	T	0.058	0.16647	.	.	0.167679373172	0.16340	0.18075085904401533	0.17994	0.114616797068	0.12926	0.284994721413	0.08198	T	0.016387	0.13553	T	-0.550707	0.00289	T	-0.657744	0.08418	T	0.024569147987575	0.01217	T	0.610139	0.23115	T	0.06803471	0.14787	0.049918775	0.07728	0.06803471	0.14786	0.049918775	0.07728	-6.051	0.46703	T	.	.	0.079	0.07412	B	.;.	.;.	2.056745	0.26148	17.02	0.72012629930230654	0.09825	0.48190	0.28151	N	AEFBI	0.085655	0.17364	N	-0.485645776220878	0.22551	1.204894	-0.316637581225131	0.27561	1.530203	0.00920931828376598	0.11815	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.71	3.8	0.42887	0.535000	0.22822	4.881000	0.45666	0.676000	0.76740	0.913000	0.31760	1.000000	0.68203	0.981000	0.58702	0.0:0.1671:0.6291:0.2038	7.753	0.28076	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	33	chr2	75689214	.	G	T	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=2.03;SOR=0.714	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	18	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.33	43	chr2	79158731	.	G	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=1240;ExcessHet=0;FS=33.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.26;MQRankSum=-11.21;QD=0.45;ReadPosRankSum=-4.601;SOR=3.456	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	200025	SUCLG1-related_disorder|Mitochondrial_DNA_depletion_syndrome_9|Mitochondrial_DNA_depletion_syndrome|not_specified|not_provided	.|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	825.33	33	chr2	84443366	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.678;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.612;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr2	84552940	84552942	AAG	-	exonic	DNAH6	.	nonframeshift deletion	DNAH6:NM_001370:exon10:c.1508_1510del:p.E505del	.	427	1092	3	0	0	3	0.00137174	.	.	.	697678	not_provided|DNAH6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00319489	0.0016	0.0059	0.0029	0	0	0.0013	0.0078	0.0001	0.0004226	11	26028	rs143228855	0.0011	0.0012	0.0012	0.0011	0.0083	0.0011	0.0011	0.0065	0.0058	0.0061	0.0030	0.0038	2.533e-05	0	0.0083	0.0009	0.0027	0.0002	0.0025	0.0024	0.0024	0.0025	0.0053	0.0022	0.0022	0.0048	0.0045	0.0053	0	0.0033	0.0026	0	0	0.0136	0.0011	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017641	0.020408	0.024457	0.026316	0.050000	0.017241	0.003049	0.003788	0.02632	2361.29	37	chr2	84552939	.	CAAG	C	2361.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=766;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.172;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	18	0	1	0
chr2	84584059	84584059	T	C	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon15:c.T2290C:p.Y764H	.	436	1076	10	0	0	10	0.00462535	.	.	.	3192400	DNAH6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.183	.	.	0.00579073	0.0038	0	0.0004	0	0	0	0	0.0273	0.0032276	499	154602	rs200199170	0.0016	0.0016	0.0009	0.0024	0.0258	0.0015	0.0015	0.0249	0.0246	0	2.236e-05	0	0	0	0.0012	1.169e-05	0.0016	0.0258	0.0008	0.0008	0.0004	0.0013	0.0261	0.0007	0.0007	0.0224	0.0210	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0261	0.051	0.39334	T	.	.	.	0.614	0.39766	P	0.293	0.40773	B	0.001272	0.39594	N	0.000000	0.892514	0.35984	D	2.32	0.66415	M	1.67	0.27331	T	-4.11	0.74980	D	0.739	0.74098	-0.7467	0.58107	T	0.174	0.51785	T	10	0.0076731145	0.00174	T	.	.	.	0.183	0.45592	0.436	0.48828	0.408853032482	0.40503	0.7354688801750067	0.73491	0.147024445095	0.16587	0.763294935226	0.76421	T	0.038791	0.24963	T	-0.335125	0.05734	T	-0.234563	0.51328	T	0.146278109477469	0.16804	T	0.777622	0.41060	T	0.29990986	0.52897	0.32841283	0.58730	0.29990986	0.52897	0.32841283	0.58729	-5.546	0.42296	T	.	.	0.335	0.55549	B	.;.	.;.	3.978615	0.58476	24.0	0.99183095809638688	0.54730	0.93454	0.58260	D	AEI	0.637185	0.61606	D	0.439094723694174	0.63586	4.595334	0.446326584897032	0.64482	4.704304	0.907342551405763	0.26256	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.144000	0.71525	7.829000	0.70041	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.0:1.0	14.995	0.71077	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1636.33	33	chr2	84584059	.	T	C	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.071;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr2	84604372	84604372	T	G	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon19:c.T2902G:p.L968V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.113909208911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.971653	0.25642	N	3.22	0.89398	M	-0.13	0.64818	T	-2.74	0.58248	D	0.471	0.50688	-0.5069	0.68399	T	0.405	0.75515	T	9	0.9050407	0.89868	D	0.113909	0.79257	D	0.389	0.70521	0.85	0.95202	0.605592448911	0.60243	0.45283112225144956	0.45201	0.456204352265	0.45275	0.485704362392	0.36844	T	0.231693	0.59808	T	0.075131	0.61466	D	-0.129856	0.60983	T	0.872982740402222	0.52285	D	0.935406	0.75832	D	0.23091853	0.45854	0.33780658	0.59566	0.23091853	0.45855	0.33780658	0.59566	-11.264	0.81086	D	.	.	0.442	0.61796	A	.;.	.;.	1.597127	0.20419	14.74	0.99464610267651066	0.65996	0.63564	0.32129	D	AEFI	0.144781	0.26783	N	-0.0976268394243894	0.37495	2.182303	-0.281336509459296	0.28712	1.603063	2.1921785181038E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	-1.48	0.08286	0.003000	0.12984	-0.142000	0.11507	-0.123000	0.13640	0.808000	0.29825	0.044000	0.21668	0.148000	0.20235	0.0:0.5559:0.0:0.4441	11.850	0.51684	808	0.43318	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	33	chr2	84604372	.	T	G	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.453;DP=721;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.853;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr2	84619759	84619759	A	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon24:c.A3647T:p.H1216L	.	434	1066	22	0	0	22	0.0102136	.	.	.	3221642	DNAH6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.726	0.287306943384	0.0002	0.000599042	0.0027	0	0	0	0	0.0010	0	0.0064	0.000414	64	154602	rs367551290	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0036	0	2.025e-05	0.0021	8.064e-05	0.0006	0.0059	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0	0.0032	0	0	0	8.82e-05	0.0005	0.0039	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999906	0.50806	D	3.86	0.95841	H	-0.32	0.68181	T	-9.94	0.98767	D	0.754	0.75559	0.166	0.85333	D	0.518	0.81990	D	9	0.036367	0.01932	T	0.287307	0.90442	D	0.726	0.90369	.	.	0.777960513408	0.77591	0.865096577779505	0.86474	0.501682463928	0.48545	0.623549222946	0.56230	T	0.509166	0.82612	D	0.0423664	0.57355	T	0.290553	0.87709	D	0.288859407349234	0.24542	T	0.954105	0.82551	D	0.6581019	0.75797	0.7632945	0.86016	0.6581019	0.75798	0.7632945	0.86017	-15.236	0.96382	D	.	.	0.919	0.84161	P	.;.	.;.	4.329581	0.66332	24.9	0.97849179643389239	0.36385	0.98760	0.86500	D	AEFI	0.911771	0.87149	D	0.832401136101166	0.88086	9.447688	0.769030768999676	0.87573	9.268184	0.985059572233249	0.30820	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.212000	0.94233	11.148000	0.87267	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.717	0.62186	705	0.57330	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002273	0.000000	0.006494	0.000000	0.000000	0.000000	0.005376	0.010870	0.02632	1144.33	33	chr2	84619759	.	A	T	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.78;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	18	0	1	0
chr2	84621332	84621332	G	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon25:c.G3934T:p.V1312L	.	436	1075	11	0	0	11	0.00509024	.	.	.	3206927	DNAH6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.207	.	.	0.00698882	0.0111	0	0.0049	0.0016	0	0	0	0.0299	0.0018823	291	154602	rs536205406	0.0018	0.0017	0.0010	0.0026	0.0291	0.0017	0.0017	0.0281	0.0277	0	2.801e-05	0	0.0009	0	0.0014	1.39e-05	0.0020	0.0291	0.0011	0.0011	0.0006	0.0016	0.0313	0.0010	0.0009	0.0272	0.0257	0	0	0	0	0.0025	0	0	1.47e-05	0.0005	0.0313	0.195	0.20759	T	.	.	.	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.993671	0.42016	D	1.065	0.27018	L	0.31	0.58613	T	-1.1	0.28497	N	0.556	0.58117	-0.9377	0.42979	T	0.139	0.45810	T	9	0.0050103962	0.00108	T	.	.	.	0.207	0.49555	0.729	0.86286	0.57674044448	0.57342	0.8791307904824415	0.87880	0.0816516279141	0.09195	0.569755673409	0.48643	T	0.005429	0.04881	T	-0.319592	0.06931	T	-0.210219	0.53675	T	0.0455757744952358	0.04706	T	0.80432	0.45191	T	0.21282794	0.43646	0.22386102	0.47278	0.21282794	0.43646	0.22386102	0.47277	-6.472	0.50070	T	.	.	0.311	0.53861	B	.;.	.;.	4.724952	0.76048	26.4	0.99273695377691173	0.57661	0.96174	0.67873	D	AEFI	0.742885	0.68636	D	-0.0139051730231737	0.41226	2.462145	0.183516655819133	0.48944	3.10372	0.999101509176022	0.38452	0.549168	0.22868	0	0.588015	0.36545	0	0.624306	0.44879	0	0.616125	0.45549	0	.	.	5.02	5.02	0.66742	5.338000	0.65718	11.769000	0.95814	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.109	0.86547	698	0.58074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001232	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	1787.33	35	chr2	84621332	.	G	T	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.582;DP=746;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.87;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1348	18	0	1	0
chr2	84669433	84669433	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon38:c.C6229T:p.R2077C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.356920129997	.	.	4.452e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs576447190	8.144e-05	7.935e-05	8.881e-05	7.387e-05	0.0002	6.892e-05	6.414e-05	8.282e-05	7.72e-05	0	0.0001	0	0	0	0.0002	9.824e-05	3.441e-05	1.262e-05	4.603e-05	4.598e-05	6.426e-05	2.693e-05	7.35e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	4.833e-05	0	0	0	0	0	0	7.35e-05	0	0	0.0	0.91255	D	.	.	.	0.983	0.60381	D	0.749	0.56004	P	.	.	.	.	0.999999	0.58761	D	2.825	0.82220	M	0.7	0.51474	T	-7.45	0.94899	D	0.859	0.85660	-0.3271	0.74218	T	0.295	0.66612	T	9	0.86177814	0.85401	D	0.35692	0.92413	D	0.552	0.81485	.	.	0.527455595252	0.52393	0.9358296372106351	0.93562	0.432291660162	0.43405	0.659931123257	0.61399	T	0.145439	0.48256	T	0.0894412	0.63126	D	0.155128	0.80507	D	0.695743192156289	0.40517	D	0.969003	0.88824	D	0.66150874	0.75979	0.68539834	0.81502	0.66150874	0.75981	0.68539834	0.81503	-9.52	0.70983	D	.	.	0.463	0.62825	A	.;.	.;.	5.488503	0.91455	32	0.99938329580113117	0.99698	0.94391	0.61016	D	AEFI	0.722423	0.67236	D	0.707091686148027	0.80100	7.219514	0.672152479238642	0.80271	7.261698	0.102214778130351	0.16407	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.460000	0.59844	7.641000	0.63200	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.767	0.88390	594	0.68584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1531.33	35	chr2	84669433	.	C	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.01;DP=785;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.925;SOR=0.851	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1291	18	0	1	0
chr2	84704121	84704121	A	G	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon51:c.A8284G:p.T2762A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0321064411709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.18434	T	.	.	.	0.173	0.28803	B	0.124	0.32546	B	.	.	.	.	0.999584	0.47691	D	0.665	0.16292	N	-0.78	0.73631	T	-3.91	0.73042	D	0.485	0.51940	-0.8163	0.54165	T	0.209	0.56826	T	9	0.22451293	0.39256	T	0.032106	0.54021	D	0.354	0.67510	0.325	0.30711	0.672464597322	0.66969	0.7696921730370141	0.76918	0.108456008198	0.12232	0.66061091423	0.61498	T	0.274802	0.64731	T	0.0114537	0.53223	T	-0.221324	0.52610	T	0.537930428981781	0.34027	D	0.860814	0.55431	D	0.27403966	0.50471	0.3308871	0.58954	0.27403966	0.50471	0.3308871	0.58953	-4.338	0.28706	T	.	.	0.224	0.45581	B	.;.	.;.	3.158290	0.42778	21.6	0.99700725456612438	0.80591	0.94121	0.60176	D	AEFBI	0.690072	0.65052	D	-0.128521416840119	0.36153	2.085979	0.0711596127703251	0.43107	2.619292	0.999916520768063	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.024000	0.63865	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.140	0.64844	599	0.68140	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	35	chr2	84704121	.	A	G	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.276;DP=743;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.625;SOR=0.886	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	18	0	1	0
chr2	85322677	85322677	C	T	exonic	TGOLN2	.	unknown	UNKNOWN	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0	0.0007	0.0003687	57	154602	rs150874201	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	6.036e-05	0.0001	0	2.542e-05	1.88e-05	0.0009	0.0005	0.0003	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0004	0.0004	0.0004	0.0001	0.0362	0.0003	0	0.0002	9.443e-05	0	0.0005	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	63	chr2	85322677	.	C	T	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=761;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.694;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1132,0,1280	18	0	1	0
chr2	85343319	85343319	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1756A:p.A586T	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0089	.	0.0086	0.0052	0.0056	0	0.0086	0.0119	0.0198	0.0030	0.0078524	1214	154602	rs143283662	0.0081	0.0095	0.0081	0.0081	0.0296	0.0080	0.0079	0.0260	0.0246	0.0051	0.0044	0.0146	2.519e-05	0.0085	0.0296	0.0088	0.0092	0.0023	0.0079	0.0087	0.0082	0.0077	0.0109	0.0076	0.0074	0.0102	0.0100	0.0045	0.0044	0.0069	0.0168	0.0002	0.0054	0.0340	0.0109	0.0128	0.0037	0.359	0.11957	T	0.435	0.13518	T	0.392	0.34646	B	0.06	0.26717	B	0.021399	0.26843	N	0.378221	0.886002	0.35849	D	1.145	0.29067	L	1.85	0.24472	T	-0.13	0.08971	N	0.027	0.00571	-1.0511	0.14092	T	0.022	0.09330	T	10	0.0038142502	0.00072	T	.	.	.	0.041	0.10877	.	.	0.0806252709748	0.07271	0.34702988945191915	0.34616	0.0721809193313	0.08090	0.345627218485	0.17275	T	0.003362	0.02768	T	-0.485256	0.00690	T	-0.462848	0.26288	T	0.00579000855353255	0.00063	T	0.782822	0.41925	T	0.0648611	0.13805	0.06569235	0.13352	0.0648611	0.13805	0.06569235	0.13352	-6.015	0.46406	T	.	.	0.074	0.05145	B	.	.	2.508222	0.32389	19.03	0.97707709646145702	0.35477	0.14533	0.18453	N	AEFDGBI	0.082621	0.16731	N	-0.468265707214611	0.23126	1.23968	-0.422141506085331	0.24348	1.332844	0.905570000125748	0.26208	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.741806	0.99463	0	.	.	5.02	2.79	0.31792	0.546000	0.22991	0.355000	0.17517	0.505000	0.23025	0.159000	0.23783	0.026000	0.21063	0.654000	0.32802	0.0:0.6331:0.0:0.3669	5.069	0.13935	888	0.27761	.	.	.	.	.	chr2:85570442	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.048913	0.043860	0.050000	0.043103	0.021341	0.007576	0.05263	1343.83	110	chr2	85343319	.	C	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=864;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=0.308;SOR=0.545	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1300	17	0	2	0
chr2	85343340	85343340	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon11:c.G1735A:p.G579S	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0179667562974	0.0014	0.000998403	0.0018	0.0004	0.0003	0	0.0011	0.0028	0.0022	0.0013	0.0015782	244	154602	rs142803140	0.0016	0.0018	0.0016	0.0016	0.0088	0.0016	0.0016	0.0068	0.0061	0.0005	0.0002	0.0010	2.519e-05	0.0008	0.0088	0.0018	0.0019	0.0012	0.0013	0.0014	0.0015	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0004	0	0.0004	0.0020	0	0.0008	0.0103	0.0022	0.0014	0.0006	0.049	0.39820	D	0.16	0.31427	T	0.876	0.48154	P	0.666	0.52990	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	1.81	0.25182	T	-4.1	0.74900	D	0.742	0.74189	-1.1336	0.01618	T	0.084	0.32814	T	10	0.039714843	0.02482	T	0.017967	0.39871	T	0.320	0.64215	.	.	0.158396225186	0.15383	0.9026882381291687	0.90240	0.272573378288	0.29765	0.552577853203	0.46222	T	0.11436	0.43212	T	-0.0992027	0.36555	T	0.0785587	0.75481	D	0.151198744773865	0.17199	T	0.918208	0.70605	D	0.62703764	0.74140	0.5067506	0.71493	0.62703764	0.74141	0.5067506	0.71493	-6.652	0.51448	T	.	.	0.231	0.46413	B	.	.	4.564284	0.71947	25.8	0.99810560419153793	0.89442	0.98846	0.87627	D	AEFDGBI	0.819616	0.74060	D	0.352482948944565	0.58870	4.062078	0.389883387069412	0.60939	4.287482	0.999999999968406	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.02	5.02	0.66742	7.298000	0.78152	5.853000	0.50357	0.505000	0.23025	1.000000	0.71638	0.999000	0.35428	0.699000	0.34110	0.0:1.0:0.0:0.0	16.187	0.81775	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.016304	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	521.33	93	chr2	85343340	.	C	T	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.277;SOR=0.607	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	18	0	1	0
chr2	85349530	85349530	T	C	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon5:c.A851G:p.H284R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0559423765479	.	0.000798722	0.0006	0.0002	0	0.0069	0	0	0.0011	0.0004	0.0004786	74	154602	rs201718270	0.0003	0.0003	0.0003	0.0003	0.0096	0.0003	0.0003	0.0088	0.0085	5.974e-05	0	0	0.0096	0	0	2.698e-06	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0.0001	0	0	0	0.0068	0	0	0	0.0005	0.0008	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.155	0.88459	M	0.3	0.58755	T	-7.05	0.93856	D	0.842	0.83781	-0.0751	0.80662	T	0.432	0.77355	T	10	0.04840538	0.04288	T	0.055942	0.66422	D	0.476	0.76816	.	.	0.646584788285	0.64365	0.9441175690499636	0.94393	0.45488885097	0.45167	0.555064558983	0.46571	T	0.270039	0.64228	T	0.00841507	0.52808	T	0.246276	0.85445	D	0.1950179446907	0.20136	T	0.724428	0.33821	T	0.77906984	0.82597	0.7286804	0.83969	0.77906984	0.82598	0.7286804	0.83970	-13.152	0.89979	D	.	.	0.741	0.74676	P	.	.	3.962977	0.58142	23.9	0.99628128245240832	0.75837	0.99138	0.91786	D	AEFDBHI	0.960040	0.98066	D	0.396986092978072	0.61257	4.324537	0.385393618672695	0.60664	4.25647	0.999999996888791	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.831000	0.84922	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.054000	0.15518	0.0:0.0:0.0:1.0	13.446	0.60593	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1089.33	36	chr2	85349530	.	T	C	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=755;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.185;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	18	0	1	0
chr2	85542218	85542218	A	G	exonic	MAT2A	.	nonsynonymous SNV	MAT2A:NM_005911:exon6:c.A613G:p.I205V	.	.	.	.	.	.	.	.	.	.	.	1041703	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Cardiovascular_phenotype	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.00830280904841	7.7e-05	.	5.765e-05	9.61e-05	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs141849127	3.42e-05	3.42e-05	2.45e-05	4.4e-05	0.0004	2.631e-05	2.375e-05	0.0003	0.0003	0	0	0	5.038e-05	0	0	9.892e-06	3.312e-05	0.0004	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.388	0.10909	T	0.345	0.18789	T	0.0	0.02946	B	0.004	0.10090	B	0.000001	0.84330	D	0.099244	0.999878	0.50225	D	0.915	0.23335	L	-1.49	0.81235	T	-0.26	0.12283	N	0.131	0.12627	-0.6577	0.62377	T	0.311	0.68157	T	10	0.15236115	0.28780	T	0.008303	0.21979	T	0.266	0.57999	.	.	0.455605821045	0.45183	0.7949033704414055	0.79443	1.02032609309	0.75088	0.726032733917	0.70927	T	0.297459	0.67005	T	-0.270485	0.11703	T	-0.29005	0.45767	T	0.104021761690397	0.12793	T	0.922708	0.71908	D	0.080792956	0.18531	0.0733744	0.15937	0.080792956	0.18531	0.0733744	0.15937	-6.434	0.49938	T	.	.	0.124	0.26074	B	.;.	.;.	3.094120	0.41671	21.4	0.95918812102622797	0.28181	0.95675	0.65680	D	AEFDBHCI	0.589109	0.58612	D	-0.0612019957879733	0.39103	2.300696	0.160696261355369	0.47713	2.997317	0.999999991704964	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	6.04	6.04	0.98025	4.139000	0.57788	9.368000	0.80425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9186:0.0:0.0814:0.0	8.968	0.35051	596	0.68392	S-adenosylmethionine synthetase, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1232.33	43	chr2	85542218	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=775;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.674;SOR=1.132	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr2	85550733	85550733	G	T	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon13:c.C1735A:p.P579T,GGCX:NM_000821:exon14:c.C1906A:p.P636T	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	287409	not_provided|Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_1|Body_skin_hyperlaxity_due_to_vitamin_K-dependent_coagulation_factor_deficiency|GGCX-related_disorder	MedGen:C3661900|MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434|MONDO:MONDO:0012570,MedGen:C1835813,OMIM:610842,Orphanet:91135|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0471386177847	0.0012	0.000599042	0.0009	0.0002	0.0009	0	0	0.0013	0.0044	0.0003	0.0008603	133	154602	rs61733105	0.0008	0.0008	0.0008	0.0008	0.0126	0.0008	0.0007	0.0102	0.0094	0.0003	0.0019	0.0064	2.519e-05	0.0001	0.0126	0.0007	0.0015	0.0003	0.0014	0.0014	0.0013	0.0015	0.0068	0.0012	0.0011	0.0057	0.0053	0.0003	0	0.0068	0.0055	0	0.0003	0.0204	0.0009	0.0019	0.0002	0.01	0.56456	D	0.039	0.51737	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	1.56	0.29602	T	-2.0	0.46146	N	0.544	0.57092	-0.7714	0.56781	T	0.208	0.56676	T	10	0.009128422	0.00206	T	0.047139	0.62782	D	0.146	0.38789	.	.	0.351830644314	0.34792	0.5763554698397407	0.57564	1.01389843922	0.74865	0.572177171707	0.48986	T	0.12056	0.44288	T	-0.151149	0.28131	T	0.00363255	0.70570	D	0.0432210997207127	0.04278	T	0.89771	0.64209	D	0.30495334	0.53345	0.22007027	0.46769	0.292351	0.52210	0.2105526	0.45445	-5.694	0.43640	T	0.6604570120523879	0.73387	0.103	0.19073	B	.;.	.;.	4.511141	0.70647	25.6	0.99673825937048144	0.78782	0.97373	0.74339	D	AEFDBCIJ	0.725842	0.67470	D	0.806940358747134	0.86540	8.917855	0.802862888699582	0.89990	10.20908	0.999999999999991	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.66	5.66	0.87293	6.660000	0.74263	8.638000	0.77881	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.614	0.87965	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	591.33	46	chr2	85550733	.	G	T	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.113;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.385;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	18	0	1	0
chr2	85616397	85616397	C	T	exonic	USP39	.	nonsynonymous SNV	USP39:NM_001256725:exon1:c.C202T:p.P68S,USP39:NM_001256726:exon1:c.C202T:p.P68S,USP39:NM_006590:exon1:c.C202T:p.P68S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0123862387906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.067e-06	2.736e-06	2.738e-06	1.387e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.385	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.180027	0.17128	N	0.582727	1	0.26742	N	0	0.06538	N	2.38	0.15964	T	-1.27	0.31981	N	0.247	0.27910	-0.9758	0.35948	T	0.018	0.07659	T	10	0.09729493	0.17512	T	0.012386	0.30920	T	0.023	0.04649	0.185	0.09388	0.530160902827	0.52664	0.5457914988815303	0.54505	0.225690265536	0.25117	0.637741088867	0.58243	T	0.014832	0.17967	T	-0.310354	0.07717	T	-0.683579	0.06767	T	0.0752220303383509	0.09365	T	0.727427	0.34191	T	0.045830645	0.07568	0.112346485	0.27107	0.045830645	0.07567	0.112346485	0.27106	-3.269	0.13340	T	.	.	0.102	0.18950	B	.;.;.;.	.;.;.;.	1.104405	0.14890	11.41	0.85277597427398022	0.15793	0.37278	0.25725	N	ALL	0.097632	0.19687	N	-1.00060504217151	0.08591	0.4034117	-0.960995065666132	0.10670	0.5388152	0.999999999764636	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.29	0.27658	1.071000	0.30278	0.164000	0.15440	0.511000	0.23309	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.7428:0.0:0.2572	7.463	0.26474	607	0.67291	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	918.33	36	chr2	85616397	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.906;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.113;SOR=0.752	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1156	18	0	1	0
chr2	86137530	86137530	A	G	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon24:c.A2041G:p.S681G	.	439	1070	12	1	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0010	0.0463259	0.0186	0.0009	0.0009	0.1684	0.0174	0.0023	0.0232	0.0298	0.0173025	2675	154602	rs2241433	0.0087	0.0087	0.0083	0.0092	0.1889	0.0086	0.0085	0.1853	0.1839	0.0004	0.0008	0	0.1889	0.0205	0.0033	0.0005	0.0164	0.0300	0.0097	0.0097	0.0077	0.0118	0.1822	0.0093	0.0091	0.1725	0.1686	0.0011	0	0.0024	0	0.1822	0.0196	0.0034	0.0009	0.0109	0.0327	0.0	0.91255	D	0.037	0.51737	D	0.734	0.42776	P	0.257	0.39298	B	0.040958	0.01885	N	1.925870	0.983851	0.24850	P	2.395	0.69210	M	1.29	0.35775	T	-1.06	0.27669	N	0.074	0.04790	-1.0935	0.04974	T	0.001	0.00222	T	9	0.0013791025	0.00015	T	.	.	.	0.158	0.41098	.	.	.	.	0.08341541099390706	0.08275	0.0489390980061	0.05346	0.392340242863	0.23999	T	0.015721	0.13134	T	-0.491515	0.00638	T	-0.334984	0.40912	T	0.0365653665484626	0.03079	T	0.486851	0.14885	T	0.20675988	0.42861	0.19804087	0.43617	0.20675988	0.42861	0.19804087	0.43616	-7.5	0.57610	T	.	.	0.091	0.13127	B	.	.	2.603636	0.33800	19.45	0.9851216936797158	0.42362	0.81921	0.41231	D	AEFDBCI	0.392853	0.47073	N	0.112457103501768	0.47043	2.935642	0.111424385791305	0.45132	2.781859	0.827433245842945	0.24632	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.38	3.23	0.36150	1.908000	0.39537	3.255000	0.37052	0.756000	0.94297	0.696000	0.28588	1.000000	0.68203	0.954000	0.50415	0.9117:0.0:0.0883:0.0	8.838	0.34280	566	0.70798	.	.	.	.	.	rs2241433	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.030303	0.02632	940.33	52	chr2	86137530	.	A	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.784;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.05;SOR=0.663	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,103,1554	18	0	1	0
chr2	86173668	86173668	T	C	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon4:c.A403G:p.T135A,IMMT:NM_001100170:exon4:c.A403G:p.T135A,IMMT:NM_006839:exon4:c.A403G:p.T135A	.	450	1065	6	1	0	8	0.00374181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0008	0.028754	0.0163	0.0007	0.0008	0.1133	0.0233	0.0029	0.0184	0.0336	0.0122832	1899	154602	rs59649940	0.0070	0.0069	0.0064	0.0076	0.1348	0.0069	0.0069	0.1318	0.1306	0.0004	0.0004	0	0.1348	0.0235	0.0027	0.0005	0.0089	0.0279	0.0068	0.0068	0.0050	0.0087	0.1029	0.0065	0.0063	0.0956	0.0928	0.0007	0	0.0010	0	0.1029	0.0224	0.0034	0.0010	0.0061	0.0290	0.241	0.17643	T	0.732	0.12668	T	0.0	0.07471	B	0.002	0.12133	B	0.160214	0.17687	N	0.593745	0.999985	0.19072	N	.	.	.	1.38	0.34050	T	-1.52	0.36980	N	0.039	0.03613	-1.0667	0.10154	T	0.002	0.00615	T	10	0.0013077557	0.00014	T	.	.	.	0.022	0.04323	.	.	.	.	0.21741057840740907	0.21657	0.110166838886	0.12430	0.273176163435	0.06559	T	0.008	0.34452	T	-0.634927	0.00089	T	-0.540985	0.18200	T	0.00232965904119592	0.00024	T	0.555444	0.21547	T	0.021082893	0.00693	0.024055175	0.00420	0.021082893	0.00693	0.024055175	0.00420	-2.954	0.09694	T	.	.	0.066	0.03301	B	.;.;.;.;.;.	.;.;.;.;.;.	0.428813	0.07991	4.708	0.53943993770796761	0.05039	0.08549	0.14463	N	AEFBI	0.065620	0.12808	N	-0.777285394776923	0.13904	0.6884064	-0.863034997967787	0.12974	0.6705137	0.655320876524615	0.22211	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.86	-0.414	0.11743	0.053000	0.14067	-0.286000	0.10231	-0.137000	0.12594	0.072000	0.22128	0.002000	0.18203	0.692000	0.33898	0.0:0.3828:0.0:0.6171	9.625	0.38912	523	0.74147	.;.;.;.;.;.	.	.	.	.	rs59649940	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009596	0.000000	0.000000	0.008772	0.050000	0.008621	0.012270	0.030303	0.02632	1007.33	45	chr2	86173668	.	T	C	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=793;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.724;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1254	18	0	1	0
chr2	86480260	86480260	T	A	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon16:c.T2410A:p.S804T,KDM3A:NM_018433:exon16:c.T2410A:p.S804T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0940854238458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.424	0.15456	T	0.0	0.02946	B	0.001	0.04355	B	0.522162	0.05208	N	1.231740	1	0.08975	N	0	0.06538	N	0.25	0.59449	T	-0.85	0.23156	N	0.104	0.12770	-0.9871	0.33323	T	0.129	0.43726	T	10	0.08136621	0.13310	T	0.094085	0.76189	D	0.205	0.49236	0.128	0.03331	0.292942362817	0.28906	0.33185839586783034	0.33098	0.100793356914	0.11392	0.306913197041	0.11440	T	0.047995	0.27888	T	-0.286999	0.09940	T	-0.650031	0.08953	T	0.0255757941327265	0.01348	T	0.545645	0.18668	T	0.05430057	0.10398	0.04178083	0.04826	0.05430057	0.10398	0.04178083	0.04826	-4.026	0.24192	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	0.448315	0.08186	4.919	0.81127167040217929	0.13532	0.09246	0.15041	N	AEFDBHCI	0.031224	0.03291	N	-0.978017569343422	0.09074	0.4279926	-1.05904306528592	0.08519	0.4192718	0.9999782926961	0.50053	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.86	-3.53	0.04369	-0.945000	0.04019	-0.340000	0.09823	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2971:0.1977:0.1918:0.3134	0.019	0.00002	482	0.77288	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2259.33	34	chr2	86480260	.	T	A	2259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.746;DP=1033;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.66;SOR=0.671	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	86720791	86720791	G	C	exonic	RMND5A	.	nonsynonymous SNV	RMND5A:NM_022780:exon1:c.G124C:p.E42Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.808954452409	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs185613013	6.935e-06	1.026e-05	6.89e-06	6.981e-06	2.384e-05	3.51e-06	2.56e-06	3.96e-06	2.25e-06	0	0	0	0	0	0	7.251e-06	0	2.384e-05	6.58e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.103	0.30097	T	0.198	0.27767	T	0.126	0.26920	B	0.092	0.30031	B	0.000029	0.55875	D	0.000000	1	0.81001	D	1.285	0.32305	L	.	.	.	-1.28	0.32185	N	0.269	0.30461	-0.9496	0.41040	T	0.098	0.36548	T	9	0.23857495	0.40980	T	0.808954	0.98509	D	0.046	0.12618	.	.	0.082315109003	0.07666	0.33885602309105023	0.33798	1.06599822823	0.76627	0.914839625359	0.97906	D	0.029811	0.21277	T	-0.100905	0.36274	T	-0.38272	0.35404	T	0.272335201501846	0.23847	T	0.817618	0.47476	T	0.24650571	0.47620	0.11048048	0.26639	0.24650571	0.47620	0.11048048	0.26639	-4.149	0.26009	T	.	.	0.362	0.57330	A	.	.	3.631133	0.51438	23.1	0.98239530478657322	0.39467	0.51787	0.28977	D	ALL	0.554697	0.56543	D	-0.304494706449287	0.28976	1.602879	-0.160578630064189	0.33003	1.883375	0.999999316481307	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.15	3.26	0.36471	3.520000	0.53221	11.379000	0.92623	0.559000	0.28343	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0871:0.0:0.9129:0.0	11.872	0.51803	333	0.86326	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	42	chr2	86720791	.	G	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=906;ExcessHet=0;FS=5.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.02;MQRankSum=-0.249;QD=11.55;ReadPosRankSum=-2.593;SOR=0.953	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr2	86984811	86984811	A	G	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon19:c.A2615G:p.Y872C,RGPD2:NM_001078170:exon19:c.A2639G:p.Y880C,RGPD1:NM_001382344:exon19:c.A2639G:p.Y880C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0148094463921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.434e-06	6.986e-06	2.506e-06	2.366e-06	3.855e-05	4.1e-07	1.5e-07	.	.	0	0	0	3.855e-05	0	0	0	0	1.981e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.115	0.36630	T	0.999	0.77913	D	0.923	0.65830	D	.	.	.	.	0.780018	0.34255	D	0.695	0.17993	N	1.4	0.33630	T	-5.32	0.84525	D	0.651	0.68863	-0.9064	0.47285	T	0.156	0.48772	T	9	0.6265645	0.68276	D	0.014809	0.35167	T	0.233	0.53499	0.403	0.43408	0.242244723065	0.23846	0.03738915728788069	0.03684	.	.	0.91236358881	0.97689	D	0.284848	0.65763	T	-0.0403852	0.45891	T	-0.295787	0.45168	T	0.969634608716965	0.68660	D	0.910709	0.68343	D	0.30774316	0.53590	0.38524032	0.63445	0.30774316	0.53590	0.38524032	0.63445	-4.338	0.28706	T	.	.	0.408	0.60041	A	.;.;.;.	.;.;.;.	3.880453	0.56390	23.7	0.99515877367213801	0.68919	0.93698	0.58936	D	AEFI	0.768821	0.70427	D	0.36611775257577	0.59596	4.140255	0.268011276197734	0.53680	3.535864	7.96114560288291E-4	0.07826	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.45	2.45	0.28953	8.413000	0.90113	4.699000	0.44401	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	1.0:0.0:0.0:0.0	8.433	0.31930	546	0.72524	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	67.45	11	chr2	86984811	.	A	G	67.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=284;ExcessHet=0;FS=2.869;InbreedingCoeff=-0.0344;MLEAC=1;MLEAF=0.026;MQ=49.62;MQRankSum=0.549;QD=4.5;ReadPosRankSum=-1.663;SOR=1.781	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,128	18	0	1	0
chr2	86987000	86987000	A	T	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon20:c.A4077T:p.K1359N,RGPD2:NM_001078170:exon20:c.A4101T:p.K1367N,RGPD1:NM_001382344:exon20:c.A4101T:p.K1367N	.	140	1342	38	2	0	42	0.0154072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	.	0.0046	0.00319489	0.0257	0.0063	0.0236	0	0.0714	0.0294	0.0185	0.0464	0.0032535	503	154602	rs200614914	0.0085	0.0084	0.0083	0.0086	0.0129	0.0083	0.0083	0.0110	0.0108	0.0013	0.0041	0.0080	0	0.0050	0.0129	0.0091	0.0081	0.0116	0.0059	0.0058	0.0058	0.0059	0.0102	0.0055	0.0054	0.0079	0.0071	0.0019	0	0.0067	0.0078	0	0.0054	0.0068	0.0077	0.0035	0.0102	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.740104	0.33813	D	3.48	0.92553	M	0.56	0.54540	T	-3.94	0.73378	D	0.63	0.65930	-0.3505	0.73539	T	0.272	0.64318	T	9	0.013425499	0.00285	T	.	.	.	0.275	0.59130	0.695	0.83219	0.202086224978	0.19791	0.028640529261616688	0.02814	.	.	0.781320095062	0.79126	T	0.403098	0.75994	T	-0.306874	0.08026	T	-0.202549	0.54404	T	0.053325045628606	0.06074	T	0.985001	0.94819	D	0.62276155	0.73911	0.563675	0.74749	0.62276155	0.73912	0.563675	0.74750	-11.857	0.84147	D	.	.	0.859	0.80277	P	.;.;.;.	.;.;.;.	2.950365	0.39262	20.9	0.99837476353400023	0.91800	0.72485	0.35477	D	AEFI	0.369293	0.45608	N	0.314513138487155	0.56894	3.854849	0.115960413105428	0.45364	2.800929	2.12320490887038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.35	1.19	0.20120	1.054000	0.30064	1.076000	0.23848	0.359000	0.20063	1.000000	0.71638	0.992000	0.31684	0.915000	0.45038	0.8335:0.0:0.1665:0.0	5.292	0.15045	544	0.72685	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005442	0.000000	0.007205	0.006329	0.000000	0.000000	0.004386	0.000000	0.02632	3642.33	33	chr2	86987000	.	A	T	3642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.411;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.85;MQRankSum=-1.204;QD=10.81;ReadPosRankSum=-1.239;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1332	18	0	1	0
chr2	87748182	87748182	T	C	exonic	PLGLB1;PLGLB2	.	nonsynonymous SNV	PLGLB1:NM_001032392:exon1:c.T29C:p.L10P,PLGLB2:NM_002665:exon1:c.T29C:p.L10P	.	286	1233	3	0	0	3	0.00121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	0.00359425	0.0009	0	0.0063	0	0	0.0005	0	0.0037	0.0010373	27	26028	rs200791595	0.0021	0.0017	0.0013	0.0028	0.0144	0.0020	0.0020	0.0136	0.0133	0.0002	0.0007	0.0050	2.801e-05	0.0010	0.0008	0.0007	0.0020	0.0144	0.0011	0.0013	0.0010	0.0012	0.0112	0.0009	0.0009	0.0085	0.0075	0.0001	0	0.0009	0.0084	0	0.0005	0	0.0008	0.0030	0.0112	0.016	0.51853	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.926582	0.36839	D	.	.	.	-0.25	0.67011	T	-3.4	0.67014	D	0.515	0.54584	-0.6149	0.64200	T	0.263	0.63372	T	6	0.013778657	0.00291	T	.	.	.	0.432	0.73807	0.566	0.68768	0.652492809915	0.64960	0.6299709681805652	0.62931	.	.	0.670973658562	0.62977	T	.	.	.	-0.248979	0.14223	T	-0.118741	0.61906	T	0.061215661531451	0.07358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.46938	B	.	.	3.831914	0.55391	23.6	0.99660085483594851	0.77883	0.19516	0.20691	N	AEFI	0.588433	0.58570	D	-0.203912041097513	0.32973	1.865533	-0.296797683945778	0.28203	1.570651	1.53134341839697E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.812	0.812	0.17886	0.561000	0.23220	6.933000	0.56965	0.211000	0.17986	0.465000	0.26683	0.969000	0.29651	0.920000	0.45560	0.0:0.0:0.0:1.0	3.923	0.08753	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	109.0	6	chr2	87748182	.	T	C	109.0	.	AC=2;AF=0.053;AN=38;DP=151;ExcessHet=0;FS=0;InbreedingCoeff=0.7982;MLEAC=1;MLEAF=0.026;MQ=30.77;QD=27.25;SOR=3.258	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,323	18	1	0	0
chr2	87785112	87785112	T	C	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon19:c.A2615G:p.Y872C,RGPD2:NM_001078170:exon19:c.A2639G:p.Y880C,RGPD1:NM_001382344:exon19:c.A2639G:p.Y880C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0130832490864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	1.697e-06	4.6e-06	0	3.478e-06	0	0	.	.	0	0	0	0	0	0	3.478e-06	0	0	0	1.319e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.819963	0.34762	D	0.695	0.17993	N	1.4	0.33630	T	-5.32	0.84525	D	0.635	0.64818	-0.9692	0.37366	T	0.119	0.41735	T	9	0.43980157	0.58028	T	0.013083	0.32199	T	0.211	0.50185	0.407	0.44066	0.238705975628	0.23479	0.027095611989315992	0.02659	.	.	0.889497995377	0.95198	D	0.175622	0.52528	T	-0.0300916	0.47404	T	-0.281001	0.46702	T	0.952820139076041	0.63880	D	0.910709	0.68343	D	0.33035395	0.55500	0.39392805	0.64100	0.33035395	0.55500	0.39392805	0.64100	-4.159	0.26155	T	.	.	0.258	0.52752	B	.;.	.;.	4.373675	0.67362	25.1	0.99504017592439731	0.68206	0.90746	0.52183	D	AEFI	0.669570	0.63696	D	0.191911229499394	0.50811	3.267615	0.101119460824155	0.44604	2.739099	0.00112067956718639	0.08239	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.341000	0.78540	2.352000	0.32320	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:0.0:1.0	8.251	0.30884	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	199.33	34	chr2	87785112	.	T	C	199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=753;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.8;MQRankSum=-0.336;QD=1.76;ReadPosRankSum=2.13;SOR=1.078	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	18	0	1	0
chr2	88027814	88027814	C	G	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750C:p.M250I,KRCC1:NM_016618:exon4:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00351585505232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0010	6.979e-06	2.825e-06	6.402e-06	2.04e-06	1.31e-06	2.66e-06	1.71e-06	0	0	0	0	0	0	6.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.30311206	0.47844	T	0.003516	0.07969	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182404402236162	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.028968	0.55587	T	-0.196166	0.55010	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.521594	0.49371	22.8	0.99389095936253258	0.62247	0.88569	0.48558	D	AEFDBI	0.317149	0.42122	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	124.74	59	chr2	88027814	.	C	G	124.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.823;DP=1296;ExcessHet=0.119;FS=247.26;InbreedingCoeff=-0.1955;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.759;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:61:.:.:0,61,1676:.	11	0	1	7
chr2	88027814	88027814	C	T	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750A:p.M250I,KRCC1:NM_016618:exon4:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00360557328611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.2972219	0.47284	T	0.003606	0.08247	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182418173270626	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.0289227	0.55579	T	-0.196231	0.55004	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.581203	0.50486	22.9	0.99264800120860308	0.57356	0.66198	0.32995	D	AEFDBI	0.185647	0.31297	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	124.74	59	chr2	88027814	.	C	T	124.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.823;DP=1296;ExcessHet=0.119;FS=247.26;InbreedingCoeff=-0.1955;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.759;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:61:.:.:0,61,1676:.	11	0	1	7
chr2	88027815	88027815	A	G	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.T749C:p.M250T,KRCC1:NM_016618:exon4:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00528123107148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0022	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	4.07e-05	0	0.0003	0.0009	0.0001	0.0002	0.0004	0.0004	1.317e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.08	0.41913	T	0.999	0.77913	D	0.973	0.72923	D	0.000010	0.62929	D	0.062069	0.784912	0.34313	D	2.87	0.83286	M	1.42	0.33189	T	-3.83	0.72120	D	0.491	0.52475	-0.7288	0.59024	T	0.150	0.47752	T	10	0.41297394	0.56350	T	0.005281	0.13494	T	0.158	0.41098	0.227	0.15257	0.501874446873	0.49824	0.012083173853278386	0.01167	0.74405189753	0.63417	0.795596718788	0.81293	T	0.187443	0.54105	T	0.189621	0.72929	D	0.0346014	0.72576	D	0.983057200908661	0.74866	D	0.843416	0.52040	T	0.40812683	0.61291	0.47128996	0.69345	0.40812683	0.61292	0.47128996	0.69345	-6.531	0.50525	T	.	.	0.801	0.77334	P	.	.	4.234492	0.64146	24.7	0.99299857433100569	0.58577	0.89661	0.50269	D	AEFDBI	0.422194	0.48830	N	0.625202900801271	0.74771	6.189935	0.642215646163538	0.78030	6.795306	0.999999404383334	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	3.809000	0.55311	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.446	0.66929	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03846	48.13	65	chr2	88027815	.	A	G	48.13	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.106;DP=1325;ExcessHet=0;FS=69.397;InbreedingCoeff=-0.1207;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.57;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:34:.:.:0,34,1852:.	12	0	1	6
chr2	88182798	88182798	C	T	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244678:exon4:c.C428T:p.S143F,THNSL2:NM_001384382:exon5:c.C428T:p.S143F,THNSL2:NM_001384383:exon5:c.C902T:p.S301F,THNSL2:NM_001244676:exon6:c.C902T:p.S301F,THNSL2:NM_018271:exon6:c.C902T:p.S301F	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.402521880167	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs759180679	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0003	7.7e-06	6.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	9.935e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	0.815	0.61523	P	0.395	0.61001	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.98	0.85499	M	-4.14	0.96772	D	-4.71	0.82341	D	0.807	0.81758	1.070	0.98577	D	0.939	0.98010	D	10	0.85915864	0.85127	D	0.402522	0.93428	D	0.866	0.95949	0.467	0.53891	0.886442875499	0.88532	0.6766900977145784	0.67608	0.446624210647	0.44532	0.473755657673	0.35197	T	0.657046	0.89662	D	0.470808	0.93367	D	0.438506	0.93283	D	0.990826189517975	0.81058	D	0.928507	0.73679	D	0.8902779	0.90531	0.89440924	0.94579	0.8902779	0.90533	0.89440924	0.94579	-11.035	0.79975	D	.	.	0.409	0.62048	A	.;.;.	.;.;.	5.065374	0.84448	28.3	0.9984163067443681	0.92229	0.97367	0.74301	D	AEFGBI	0.908276	0.86338	D	0.766647386403842	0.83984	8.162899	0.753409923339131	0.86409	8.880749	0.999999999990469	0.74766	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.041000	0.76279	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:1.0:0.0:0.0	19.050	0.93023	952	0.10565	.;.;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2276.33	44	chr2	88182798	.	C	T	2276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=838;ExcessHet=0;FS=11.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.732;SOR=0.29	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1219	18	0	1	0
chr2	88574904	88574904	G	T	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon13:c.C2126A:p.P709Q,EIF2AK3:NM_004836:exon13:c.C2579A:p.P860Q	Wolcott-Rallison syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0498846459298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.46129	T	0.088	0.40586	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-0.74	0.74371	T	-2.35	0.51968	N	0.532	0.56058	0.088	0.83961	D	0.558	0.83873	D	10	0.5689179	0.65208	D	0.049885	0.64005	D	0.454	0.75347	0.391	0.41443	0.904525955387	0.90357	0.446609520362306	0.44578	0.520348052865	0.49834	0.477595508099	0.35726	T	0.297976	0.67055	T	0.170664	0.71184	D	0.0073712	0.70813	D	0.907645463943481	0.56199	D	0.855714	0.54342	D	0.2170701	0.44181	0.2790056	0.53865	0.2170701	0.44181	0.2790056	0.53864	-3.705	0.19392	T	.	.	0.425	0.60910	A	.;.;.	.;.;.	4.633873	0.73709	26.0	0.99453655488030313	0.65427	0.98233	0.80775	D	AEFBCI	0.852062	0.76896	D	0.808362136524787	0.86628	8.946269	0.804419652660572	0.90098	10.25564	0.99999999999654	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.594000	0.90622	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	19.532	0.95226	841	0.37094	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	46.33	35	chr2	88574904	.	G	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=744;ExcessHet=0;FS=44.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.108;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,117,1432:.	18	0	1	0
chr2	88574905	88574905	G	T	exonic	EIF2AK3	.	nonsynonymous SNV	EIF2AK3:NM_001313915:exon13:c.C2125A:p.P709T,EIF2AK3:NM_004836:exon13:c.C2578A:p.P860T	Wolcott-Rallison syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.0553660016972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.45756	T	0.088	0.40586	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.095	0.27400	L	-0.75	0.74477	T	-2.81	0.61435	D	0.519	0.54932	-0.0020	0.82215	T	0.516	0.81869	D	10	0.6433604	0.69185	D	0.055366	0.66207	D	0.483	0.77271	0.397	0.42426	0.898679974086	0.89767	0.4036095341057984	0.40276	1.05760609486	0.76358	0.504642426968	0.39474	T	0.336942	0.70639	T	0.20193	0.74073	D	0.0522815	0.73735	D	0.952494561672211	0.63804	D	0.89891	0.64583	D	0.30674693	0.53503	0.2641103	0.52226	0.30674693	0.53503	0.2641103	0.52225	-3.161	0.12010	T	.	.	0.422	0.60778	A	.;.;.	.;.;.	4.412661	0.68277	25.2	0.99785772459236199	0.87219	0.98233	0.80775	D	AEFBCI	0.839001	0.75645	D	0.758616209016475	0.83464	8.024577	0.772103616091954	0.87796	9.347537	0.99999999999654	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.594000	0.90622	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	19.532	0.95226	841	0.37094	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	46.33	35	chr2	88574905	.	G	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.886;DP=744;ExcessHet=0;FS=44.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.125;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,117,1432:.	18	0	1	0
chr2	94603085	94603085	G	A	exonic	LOC100509620	.	nonsynonymous SNV	LOC100509620:NM_001382497:exon5:c.G329A:p.R110H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250449904	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.571e-05	0.0004	0.0004	6.048e-05	0.0006	0	0.0001	0	0	0.0001	8.396e-05	1.206e-05	9.192e-05	9.186e-05	0.0001	6.715e-05	0.0002	5.524e-05	4.361e-05	7.91e-05	5.995e-05	2.404e-05	0	0.0002	0	0	0	0	0.0001	0	0	0.045	0.40832	D	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.02	0.85542	D	-3.37	0.66665	D	0.173	0.18512	.	.	.	.	.	.	.	0.13581991	0.25844	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770923	0.40135	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09191	B	.	.	2.009263	0.25529	16.80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271000	0.18390	1.358000	0.25859	0.318000	0.19305	0.000000	0.06391	0.006000	0.19429	0.037000	0.13953	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	540.33	34	chr2	94603085	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=686;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.51;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1162	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,18:232:99:0|1:94876587_C_A:112,0,8871:94876587	7	0	12	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	1153.43	347	chr2	94876599	.	C	T	1153.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.864;DP=4199;ExcessHet=0.7564;FS=4.755;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=57.82;MQRankSum=-14.46;QD=1;ReadPosRankSum=-2.48;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:259,0:259:99:.:.:0,120,1800:.	15	0	4	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,51:336:99:0|1:94876587_C_A:1284,0,11814:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,66:369:99:0|1:94876587_C_A:1839,0,12469:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,77:458:99:0|1:94876671_A_G:2076,0,15547:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,78:460:99:0|1:94876671_A_G:2095,0,15580:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:375,55:430:99:.:.:476,0,9595:.	3	0	16	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	5398.38	564	chr2	94876737	.	C	A	5398.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.203;DP=3835;ExcessHet=2.9153;FS=1.937;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.27;MQRankSum=-14.34;QD=1.77;ReadPosRankSum=-2.14;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	12	0	7	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5526.38	560	chr2	94876740	.	A	C	5526.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.091;DP=3824;ExcessHet=2.9153;FS=1.93;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.4;MQRankSum=-14.25;QD=1.84;ReadPosRankSum=-2.05;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	12	0	7	0
chr2	95149484	95149484	T	C	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.A1220G:p.H407R,ZNF514:NM_032788:exon5:c.A1001G:p.H334R	.	390	1122	10	0	0	10	0.00443656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	.	0.0010	0.00339457	0.0017	0.0006	0.0006	0	0	0.0011	0.0022	0.0068	0.0016106	249	154602	rs141510791	0.0014	0.0014	0.0012	0.0017	0.0073	0.0014	0.0014	0.0068	0.0066	0.0002	0.0012	0.0003	0	9.36e-05	0.0055	0.0012	0.0014	0.0073	0.0012	0.0012	0.0009	0.0014	0.0077	0.0010	0.0010	0.0057	0.0050	0.0004	0	0.0012	0.0014	0	9.438e-05	0	0.0014	0.0043	0.0077	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.953275	0.37823	D	3.715	0.94732	H	-2.18	0.86722	D	-7.83	0.96005	D	0.639	0.72746	0.677	0.92885	D	0.791	0.92914	D	9	0.015602708	0.00327	T	.	.	.	0.604	0.84398	.	.	0.935693242267	0.93502	0.36414015189395926	0.36328	0.309480003285	0.33256	0.851956009865	0.89909	D	0.38788	0.74869	T	-0.062832	0.42463	T	0.140835	0.79598	D	0.132421882821341	0.15604	T	0.758124	0.38180	T	0.8201964	0.85233	0.71664095	0.83274	0.8201964	0.85234	0.71664095	0.83275	-11.481	0.82230	D	.	.	0.948	0.86679	P	.;.	.;.	2.898845	0.38415	20.7	0.99507799071575931	0.68440	0.12746	0.17454	N	AEFDBHCI	0.595607	0.59009	D	0.675354672854593	0.78017	6.787664	0.478011926596152	0.66535	4.964816	0.99441713441941	0.33626	0.646311	0.45356	0	0.670034	0.63936	0	0.658983	0.55881	0	0.699875	0.68795	0	.	.	2.4	2.4	0.28568	3.351000	0.51947	2.543000	0.33225	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.993000	0.69303	0.0:0.0:0.0:1.0	8.675	0.33334	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	1992.33	33	chr2	95149484	.	T	C	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=782;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.479;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr2	95150037	95150037	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G667A:p.D223N,ZNF514:NM_032788:exon5:c.G448A:p.D150N	.	431	1086	5	0	0	5	0.00229674	.	.	.	2453410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0012703278923	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765126553	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.559	0.09144	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	0.999995	0.08975	N	0.75	0.19020	N	3.5	0.05014	T	-0.74	0.20791	N	0.09	0.06854	-0.9614	0.38916	T	0.011	0.04088	T	9	0.048018277	0.04197	T	0.00127	0.01733	T	0.046	0.12618	0.545	0.65873	0.208000267992	0.20380	0.02177175760786996	0.02129	0.0391618071246	0.04173	0.244533360004	0.03214	T	0.025123	0.18850	T	-0.537408	0.00347	T	-0.807072	0.01732	T	0.0225517343402341	0.00971	T	0.174883	0.01686	T	0.01988252	0.00529	0.029019812	0.01196	0.01988252	0.00529	0.029019812	0.01196	-3.21	0.12603	T	.	.	0.095	0.14706	B	.;.	.;.	0.553274	0.09217	6.001	0.52325745692660997	0.04727	0.00069	0.00489	N	AEFBCI	0.035640	0.04621	N	-1.08797316189328	0.06864	0.317186	-1.09437063746344	0.07810	0.3814027	0.0139203205759582	0.12527	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.18	2.3	0.27735	-0.322000	0.08049	-1.095000	0.06346	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	0.0:0.7452:0.0:0.2548	5.482	0.16020	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2499.33	33	chr2	95150037	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=868;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.52;SOR=0.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr2	95150133	95150133	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G571A:p.G191S,ZNF514:NM_032788:exon5:c.G352A:p.G118S	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00223007863182	0.0022	0.00119808	0.0029	0.0007	0.0021	0	0.0056	0.0037	0.0044	0.0019	0.0028137	435	154602	rs151077080	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0011	0	0.0046	0.0017	0.0035	0.0027	0.0020	0.0023	0.0023	0.0023	0.0024	0.0034	0.0021	0.0020	0.0031	0.0029	0.0006	0	0.0008	0.0023	0	0.0051	0	0.0034	0.0009	0.0029	0.208	0.19782	T	0.451	0.12920	T	0.034	0.20480	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.57	0.04645	T	1.54	0.00702	N	0.048	0.01999	-0.9680	0.37612	T	0.014	0.05465	T	9	0.006148815	0.00138	T	0.00223	0.04233	T	0.012	0.01476	.	.	0.141422826196	0.13715	0.02770498026431738	0.02720	0.0396205225071	0.04231	0.246488302946	0.03407	T	0.013314	0.11540	T	-0.701883	0.00036	T	-0.780029	0.02452	T	0.000867880939040333	0.00008	T	0.339066	0.07293	T	0.018181358	0.00339	0.03133039	0.01706	0.018181358	0.00339	0.03133039	0.01705	-5.765	0.44268	T	.	.	0.084	0.09481	B	.;.	.;.	0.555394	0.09238	6.022	0.63366756943036573	0.07205	0.00097	0.00633	N	AEFBCI	0.043966	0.07015	N	-1.2406463053428	0.04424	0.1996404	-1.3349206712708	0.03986	0.1871118	0.0027188511871545	0.09654	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.18	-0.612	0.11016	-0.682000	0.05286	-0.860000	0.07144	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5769:0.0:0.4231	7.430	0.26292	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2161.33	33	chr2	95150133	.	C	T	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=965;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.594;SOR=0.599	GT:AD:DP:GQ:PL	0/1:107,88:195:99:2175,0,2512	18	0	1	0
chr2	95310404	95310404	C	T	exonic	KCNIP3	.	nonsynonymous SNV	KCNIP3:NM_013434:exon2:c.C65T:p.T22I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0190335219571	.	0.000599042	7.459e-05	0	0	0.0009	0	1.506e-05	0	0	7.76e-05	12	154602	rs141559644	8.212e-05	8.209e-05	8.578e-05	7.841e-05	0.0029	7.004e-05	6.555e-05	0.0025	0.0023	0	0	0	0.0029	0	0	4.497e-06	0	0	5.253e-05	5.249e-05	3.855e-05	6.715e-05	0.0016	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0.0016	0	0	0	0	0	0.25	0.21801	T	0.47	0.12246	T	0.0	0.02946	B	0.0	0.01387	B	0.551464	0.11431	N	0.764889	1	0.08975	N	0.55	0.14455	N	-0.5	0.71895	T	-0.76	0.23808	N	0.12	0.11054	-1.0194	0.23910	T	0.117	0.41275	T	10	0.011351317	0.00249	T	0.019034	0.41279	T	0.116	0.32463	.	.	0.221890330934	0.21812	0.139054246115322	0.13828	0.45287846608	0.44993	0.395358920097	0.24422	T	0.091252	0.38756	T	-0.459417	0.00991	T	-0.521852	0.20108	T	0.512008726596832	0.33072	D	0.525647	0.17278	T	0.039787427	0.05560	0.043664917	0.05483	0.039787427	0.05559	0.043664917	0.05483	-3.716	0.19555	T	.	.	0.082	0.08657	B	.;.	.;.	0.878591	0.12517	9.047	0.64327084200422924	0.07463	0.53655	0.29424	D	AEFDBI	0.066970	0.13142	N	-0.786649480907401	0.13658	0.6743836	-0.755047684821908	0.15599	0.8211805	0.100864792308449	0.16364	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.02	0.475	0.15984	0.277000	0.18496	-0.006000	0.13130	0.599000	0.40250	0.010000	0.18352	0.000000	0.08366	0.524000	0.29567	0.0:0.5316:0.1492:0.3192	5.004	0.13621	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1636.33	33	chr2	95310404	.	C	T	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.187;DP=774;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.18;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr2	95594429	95594429	C	G	exonic	TRIM43	.	nonsynonymous SNV	TRIM43:NM_138800:exon2:c.C406G:p.H136D	.	456	1063	3	0	0	3	0.00140911	.	.	.	3337004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00392952966489	.	.	0.0002	0.0005	0	0	0.0002	6.076e-05	0	0.0007	0.0023821	62	26028	rs2464729	0.0007	0.0010	0.0005	0.0009	0.0069	0.0007	0.0006	0.0064	0.0063	0.0020	0.0003	0	0.0007	1.877e-05	0	0.0002	0.0009	0.0069	0.0014	0.0015	0.0015	0.0013	0.0069	0.0012	0.0012	0.0051	0.0044	0.0028	0	0.0009	0	0.0010	0	0	0.0006	0.0014	0.0069	0.274	0.15823	T	0.409	0.14588	T	0.356	0.33761	B	0.172	0.35394	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.41	0.57100	T	-3.44	0.67477	D	0.234	0.26354	-1.0055	0.28307	T	0.098	0.36574	T	9	0.016666204	0.00352	T	0.00393	0.09274	T	0.045	0.12272	.	.	0.570510961217	0.56716	0.18942858001382776	0.18860	0.145945834864	0.16482	0.440152704716	0.30597	T	0.105811	0.41660	T	-0.521718	0.00430	T	-0.535418	0.18750	T	0.0270707010481778	0.01555	T	0.00715928	0.00032	T	0.07744654	0.17579	0.09199854	0.21658	0.07744654	0.17578	0.09199854	0.21657	-8.328	0.63284	D	.	.	0.211	0.43855	B	.	.	0.148078	0.05405	1.884	0.704874107900341	0.09312	0.00687	0.02939	N	AEFI	0.031528	0.03391	N	-1.01483339283439	0.08295	0.38845	-1.20985890650865	0.05750	0.2748825	4.18142645057232E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.22	-2.44	0.06126	0.306000	0.19030	-2.290000	0.03944	-0.486000	0.05055	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.238:0.2478:0.0:0.5142	2.178	0.03631	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1731.33	35	chr2	95594429	.	C	G	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=810;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.58;MQRankSum=-4.71;QD=10.07;ReadPosRankSum=1.62;SOR=1.065	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:178,55:233:99:1210,0,4676	0	0	19	0
chr2	95855402	95855402	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.C5957T:p.A1986V	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000631896702872	.	.	0.0002	0.0001	8.678e-05	0	0	0.0003	0.0011	0.0002	3.84e-05	1	26028	rs76606859	2.053e-06	8.893e-06	4.086e-06	0	.	5.5e-07	1.5e-07	.	.	0	0	0	0	5.639e-05	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.57	0.13552	T	-1.77	0.41809	N	0.165	0.17416	-0.9544	0.40203	T	0.019	0.07846	T	7	0.08118898	0.13264	T	6.32E-4	0.00319	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.010211084344198413	0.00983	.	.	.	.	.	0.003816	0.03222	T	-0.347539	0.04883	T	-0.736992	0.04019	T	0.100647859275341	0.12429	T	0.462454	0.13421	T	0.03511514	0.04071	0.05560817	0.09786	0.03511514	0.04071	0.05560817	0.09786	-6.012	0.46381	T	.	.	0.260	0.49451	B	.	.	1.035434	0.14157	10.73	0.98637519765940418	0.44001	0.07756	0.13755	N	AEFI	0.042056	0.06477	N	-0.800839877268318	0.13288	0.6535874	-0.97423012277431	0.10366	0.5216334	2.64000259135655E-4	0.06244	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.04	0.02742	1.747000	0.37925	-0.122000	0.11711	0.318000	0.19305	0.993000	0.37899	0.000000	0.08366	0.055000	0.15596	0.2997:0.0:0.4912:0.2092	5.100	0.14091	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	307	chr2	95855402	.	G	A	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=4748;ExcessHet=0;FS=5.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.72;MQRankSum=-6.456;QD=0.31;ReadPosRankSum=-1.937;SOR=1.249	GT:AD:DP:GQ:PL	0/0:236,0:236:99:0,120,1800	18	0	1	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/0:257,0:257:79:0,79,6679	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:202,119:321:99:2463,0,5403	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:194,75:269:99:1884,0,5501	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:230,33:263:99:469,0,9150	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:197,60:257:99:1480,0,5567	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:80,10:90:99:175,0,3262	6	0	13	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	230.75	104	chr2	95859918	.	ATTTC	A	230.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.928;DP=2254;ExcessHet=0.3672;FS=0.711;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=58.54;MQRankSum=-4.385;QD=0.62;ReadPosRankSum=0.84;SOR=0.583	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	16	0	3	0
chr2	95859954	95859954	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4901A:p.S1634N	.	975	535	5	7	0	19	0.0174472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0169	0.0155	0.0311	0.0479	0.0038	0.0313	0.0175	0.0027	0.0027296	422	154602	rs113412941	2.866e-05	0.0003	2.969e-05	2.76e-05	7.591e-05	2.16e-05	1.902e-05	3.222e-05	2.187e-05	0	0	0	0	0.0007	0	0	0	7.591e-05	3.955e-05	0.0002	5.153e-05	2.699e-05	0.0001	1.72e-05	1.132e-05	2.271e-05	9.11e-06	0	0	0.0001	0	0	0.0002	0	2.948e-05	0	0	0.288	0.15098	T	0.037	0.51737	D	0.618	0.39878	P	0.187	0.36167	B	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-0.15	0.09297	N	0.085	0.06190	-1.0222	0.22998	T	0.027	0.11751	T	9	0.006032169	0.00135	T	.	.	.	0.013	0.01715	.	.	0.0762999501168	0.06990	0.0030737086632448584	0.00286	.	.	0.462406307459	0.33641	T	6.79E-4	0.00299	T	-0.348796	0.04804	T	-0.738798	0.03941	T	0.00345835183009096	0.00037	T	0.289271	0.05243	T	0.03892725	0.05279	0.047470983	0.06844	0.03892725	0.05279	0.047470983	0.06843	-4.896	0.35690	T	.	.	0.179	0.39081	B	.	.	0.950372	0.13263	9.766	0.70770463222112867	0.09405	0.00569	0.02581	N	AEFI	0.025482	0.01752	N	-0.895806730769085	0.10941	0.5254352	-1.0436911237332	0.08838	0.4365797	1.00806530901643E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	0.951	0.18703	0.029000	0.13555	-4.313000	0.02222	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6192:0.0:0.3808	4.087	0.09427	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.35	104	chr2	95859954	.	C	T	36.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=2389;ExcessHet=0;FS=2.011;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=59.14;MQRankSum=-5.614;QD=0.24;ReadPosRankSum=1.47;SOR=0.587	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	18	0	1	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,37:142:99:0|1:95859969_A_AT:1176,0,4270:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,37:142:99:0|1:95859969_A_AT:1176,0,4270:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,34:141:99:0|1:95859969_A_AT:1106,0,4323:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:100,34:134:99:1128,0,2621	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,33:127:99:0|1:95860002_T_A:1103,0,3741:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,33:122:99:0|1:95860002_T_A:1118,0,3607:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,27:106:99:0|1:95860020_G_A:896,0,3216:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,26:105:99:0|1:95860020_G_A:854,0,3219:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:75,18:93:99:531,0,2127	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,22:136:99:0|1:95927222_G_GAT:581,0,4721:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,33:157:99:0|1:95927222_G_GAT:1012,0,5107:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,44:174:99:0|1:95927222_G_GAT:1456,0,5326:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,84:237:99:0|1:95927222_G_GAT:3067,0,6172:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,118:285:99:0|1:95927222_G_GAT:4401,0,6612:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,121:291:99:0|1:95927222_G_GAT:4457,0,6654:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,51:164:99:0|1:95929092_T_C:1736,0,4540:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,66:210:99:0|1:95929092_T_C:2338,0,5848:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,84:250:99:0|1:95929092_T_C:3027,0,6717:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,90:261:99:0|1:95929092_T_C:3264,0,6909:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,98:270:99:0|1:95929092_T_C:3567,0,6927:95929092	0	0	19	0
chr2	95935472	95935472	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.T1717C:p.S573P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.00527153839806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.12	0.28906	N	0.175	0.18784	-0.9044	0.47515	T	0.225	0.58957	T	6	0.090824604	0.15857	T	0.005272	0.13464	T	0.177	0.44549	0.26	0.20315	0.303453137403	0.29957	0.0025964046087465953	0.00241	.	.	.	.	.	0.008067	0.07427	T	-0.141922	0.29583	T	-0.441637	0.28624	T	0.039472528729692	0.03595	T	0.268373	0.04464	T	0.13172004	0.30693	0.07496957	0.16457	0.13172004	0.30693	0.07496957	0.16457	-4.435	0.30028	T	.	.	0.196	0.48156	B	.;.	.;.	0.902052	0.12763	9.279	0.84518185438774429	0.15338	0.00147	0.00892	N	AEFGI	0.051239	0.09033	N	-0.976929361326503	0.09098	0.4292066	-1.22904852238101	0.05448	0.2596297	7.79519956303825E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.93	0.07180	-2.368000	0.01156	-4.076000	0.02356	0.358000	0.20042	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3254:0.4164:0.0:0.2581	1.787	0.02859	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	70.34	41	chr2	95935472	.	A	G	70.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.161;DP=742;ExcessHet=0;FS=28.792;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=38.93;MQRankSum=0.895;QD=1.02;ReadPosRankSum=1.31;SOR=4.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1022:.	18	0	1	0
chr2	95962541	95962541	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon7:c.C806T:p.S269F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.00991441437078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279538962	4.833e-06	5.472e-06	4.124e-06	5.548e-06	5.402e-06	2.01e-06	1.29e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.402e-06	1.663e-05	0	1.316e-05	1.314e-05	0	2.694e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.37	0.80214	T	-1.02	0.26843	N	0.37	0.41162	-0.6036	0.64668	T	0.372	0.73121	T	7	0.22886527	0.39801	T	0.009914	0.25811	T	0.308	0.62947	0.488	0.57257	0.611199080189	0.60807	0.13704277996643888	0.13628	.	.	.	.	.	0.005249	0.04698	T	-0.000453583	0.51593	T	-0.238428	0.50952	T	0.378739476203918	0.28134	T	0.859414	0.55137	D	0.06853617	0.14940	0.07008977	0.14850	0.06853617	0.14940	0.07008977	0.14850	-7.233	0.55717	T	.	.	0.298	0.52801	B	.	.	3.291875	0.45147	22.1	0.95293401780183162	0.26602	0.23486	0.22091	N	AEFGBI	0.042304	0.06545	N	-0.402296208579968	0.25388	1.377831	-0.560339649073927	0.20531	1.106604	8.76863986404052E-5	0.04703	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	1.25	1.25	0.20475	2.545000	0.45429	-0.343000	0.09801	0.463000	0.21641	0.933000	0.32380	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.963	0.18547	284	0.88763	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1319.33	36	chr2	95962541	.	G	A	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.407;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1249	18	0	1	0
chr2	96024538	96024538	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon14:c.C1363T:p.R455C,GPAT2:NM_001321530:exon14:c.C1345T:p.R449C,GPAT2:NM_001321525:exon15:c.C1576T:p.R526C,GPAT2:NM_001321526:exon15:c.C1576T:p.R526C,GPAT2:NM_001321527:exon15:c.C1576T:p.R526C,GPAT2:NM_001321528:exon15:c.C1576T:p.R526C,GPAT2:NM_207328:exon15:c.C1558T:p.R520C,GPAT2:NM_001321531:exon16:c.C1558T:p.R520C	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.107826512024	0.0069	0.00219649	0.0060	0.0015	0.0018	0	0.0020	0.0086	0.0045	0.0064	0.0063389	980	154602	rs2579514	0.0097	0.0097	0.0097	0.0096	0.0113	0.0096	0.0095	0.0111	0.0111	0.0016	0.0024	0.0115	5.038e-05	0.0017	0.0052	0.0113	0.0076	0.0063	0.0059	0.0059	0.0064	0.0053	0.0100	0.0055	0.0054	0.0094	0.0092	0.0019	0	0.0025	0.0115	0.0002	0.0019	0.0068	0.0100	0.0038	0.0046	0.075	0.38633	T	0.061	0.45530	T	0.995	0.77913	D	0.629	0.62312	P	0.039907	0.24117	N	0.433683	0.866083	0.35475	D	1.79	0.46772	L	-1.18	0.78314	T	-2.87	0.60348	D	0.413	0.45615	-0.0349	0.81527	T	0.373	0.73197	T	10	0.008728266	0.00198	T	0.107827	0.78408	D	0.360	0.68052	.	.	0.780935779709	0.77891	0.3718647657975317	0.37100	1.24239440514	0.81593	0.490861952305	0.37558	T	0.19526	0.55129	T	-0.31901	0.06978	T	-0.220624	0.52677	T	0.0104605663342505	0.00144	T	0.873613	0.58243	D	0.18516286	0.39866	0.10823617	0.26070	0.18516286	0.39866	0.10823617	0.26069	-6.424	0.49696	T	.	.	0.102	0.18331	B	.;.;.	.;.;.	3.932541	0.57488	23.9	0.99889263894804836	0.96359	0.77108	0.37877	D	AEFBCI	0.393372	0.47104	N	0.296037873417817	0.55947	3.75889	0.253188650728571	0.52832	3.455345	0.498637974936373	0.20923	0.553676	0.25195	0	0.514364	0.08380	0	0.505578	0.09266	0	0.620846	0.47308	0	.	.	4.63	4.63	0.57175	1.902000	0.39479	7.494000	0.59405	0.640000	0.52149	0.938000	0.32564	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	12.861	0.57303	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.002717	0.002924	0.000000	0.000000	0.021341	0.007576	0.02632	1224.33	33	chr2	96024538	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.493;SOR=0.685	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	96025943	96025943	C	T	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon11:c.G1012A:p.V338M,GPAT2:NM_001321530:exon11:c.G1012A:p.V338M,GPAT2:NM_001321525:exon12:c.G1225A:p.V409M,GPAT2:NM_001321526:exon12:c.G1225A:p.V409M,GPAT2:NM_001321527:exon12:c.G1225A:p.V409M,GPAT2:NM_001321528:exon12:c.G1225A:p.V409M,GPAT2:NM_207328:exon12:c.G1225A:p.V409M,GPAT2:NM_001321531:exon13:c.G1225A:p.V409M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.11103632897	8.1e-05	.	0.0003	0.0013	0.0003	0.0001	0	0.0002	0.0011	0.0003	0.0002689	7	26028	rs2692900	9.388e-05	0.0002	8.728e-05	0.0001	0.0002	8.107e-05	7.598e-05	0.0001	0.0001	0.0002	0.0001	3.83e-05	2.52e-05	0	0	8.82e-05	0.0001	0.0002	7.231e-05	0.0001	7.712e-05	6.727e-05	0.0002	3.973e-05	3.128e-05	4.765e-05	3.339e-05	2.415e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.029	0.45756	D	0.008	0.67890	D	0.89	0.48942	P	0.286	0.40541	B	0.000795	0.41772	D	0.172164	0.554421	0.31308	N	2.075	0.57047	M	-1.16	0.78082	T	-1.08	0.28084	N	0.449	0.50418	-0.3428	0.73762	T	0.272	0.64370	T	10	0.14049667	0.26705	T	0.111036	0.78865	D	0.299	0.61955	.	.	0.747480226326	0.74520	0.2688373911568421	0.26796	0.436534825472	0.43739	0.625965237617	0.56573	T	0.023084	0.17685	T	-0.233024	0.16250	T	-0.256344	0.49189	T	0.01862266945301	0.00576	T	0.863414	0.55914	D	0.052868087	0.09923	0.09603933	0.22802	0.052868087	0.09923	0.09603933	0.22802	-7.181	0.55345	T	.	.	0.417	0.60746	A	.;.;.	.;.;.	3.189857	0.43335	21.7	0.99720421404065829	0.81984	0.13034	0.17625	N	AEFI	0.177751	0.30500	N	-0.199704741341172	0.33148	1.877269	-0.210551811480098	0.31156	1.760607	0.00117766821663554	0.08304	0.553676	0.25195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	4.7	3.82	0.43153	0.416000	0.20918	2.687000	0.34060	-0.227000	0.07798	0.191000	0.24200	0.992000	0.31684	0.940000	0.48062	0.1967:0.8033:0.0:0.0	10.324	0.42965	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000566	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	674.33	37	chr2	96025943	.	C	T	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=733;ExcessHet=0;FS=7.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.13;MQRankSum=-6.064;QD=7.84;ReadPosRankSum=0.005;SOR=1.536	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1398	18	0	1	0
chr2	96115824	96115824	T	C	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.A326G:p.D109G	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949	0.290049764217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.095	0.97289	H	.	.	.	.	.	.	0.946	0.95374	0.861	0.95163	D	0.822	0.94019	D	9	0.98468006	0.98677	D	0.29005	0.90532	D	.	.	0.933	0.98990	0.810750342552	0.80897	0.9818756798931852	0.98179	.	.	0.911249995232	0.97587	D	0.762766	0.93586	D	0.50331	0.94381	D	0.485193	0.94302	D	0.984927415847778	0.76075	D	0.999138	0.99663	D	0.817508	0.85052	0.8241972	0.89809	0.817508	0.85054	0.8241972	0.89809	-11.285	0.81198	D	.	.	0.994	0.94980	P	.	.	5.489903	0.91472	32	0.99777439819834524	0.86433	0.91577	0.53820	D	AEFDGBCI	0.962376	0.98394	D	0.888191481883278	0.91168	10.74938	0.769358477230547	0.87597	9.27663	0.999999999942353	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.48	4.48	0.53973	8.017000	0.88732	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.833	0.51581	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1436.33	38	chr2	96115824	.	T	C	1436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1016;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.094;SOR=0.692	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr2	96145051	96145051	G	A	exonic	DUSP2	.	nonsynonymous SNV	DUSP2:NM_004418:exon1:c.C304T:p.R102W	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0486785028326	0.0008	.	0.0005	0	0	0	0	0.0018	0	0	0.0006404	99	154602	rs202128160	0.0030	0.0029	0.0031	0.0030	0.0036	0.0029	0.0029	0.0035	0.0035	0.0004	0.0014	0.0006	0	0.0010	0.0024	0.0036	0.0025	8.922e-05	0.0021	0.0021	0.0024	0.0018	0.0038	0.0019	0.0019	0.0034	0.0033	0.0003	0	0.0027	0.0014	0	0.0002	0.0069	0.0038	0.0014	0	0.006	0.61437	D	0.006	0.70582	D	0.957	0.54824	D	0.326	0.41929	B	0.505589	0.11900	N	0.767253	0.999077	0.21650	N	1.995	0.54099	M	1.45	0.32482	T	-3.15	0.64132	D	0.1	0.08227	-1.0287	0.20876	T	0.056	0.23565	T	10	0.0112270415	0.00246	T	0.048679	0.63478	D	0.042	0.11227	.	.	0.251679625132	0.24793	0.4418131379139081	0.44098	1.1193126594	0.78252	0.919108450413	0.98254	D	0.379662	0.74237	T	-0.559087	0.00257	T	-0.578288	0.14698	T	0.0276129498296681	0.01632	T	0.825917	0.48908	T	0.14256355	0.32802	0.11035285	0.26607	0.14256355	0.32802	0.11035285	0.26606	-8.574	0.64917	D	.	.	0.122	0.25592	B	.	.	3.317400	0.45614	22.2	0.99877200163070956	0.95410	0.12652	0.17398	N	ALL	0.317464	0.42145	N	-0.299465328961258	0.29169	1.615211	-0.419721594066968	0.24419	1.337044	0.999999999964746	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.1	1.22	0.20300	-0.155000	0.10101	0.630000	0.20219	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.749000	0.35751	0.1043:0.378:0.3609:0.1568	3.064	0.05834	296	0.88164	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003236	0.000000	0.004412	0.006250	0.000000	0.000000	0.003356	0.004032	0.05263	1448.81	34	chr2	96145051	.	G	A	1448.81	.	AC=2;AF=0.053;AN=38;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.69;SOR=1.455	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1087	18	1	0	0
chr2	96195459	96195459	T	A	exonic	STARD7	.	nonsynonymous SNV	STARD7:NM_001385622:exon2:c.A78T:p.Q26H,STARD7:NM_020151:exon2:c.A381T:p.Q127H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00219649	0.0009	0	0.0002	0	0	0	0	0.0069	0.0007568	117	154602	rs570567602	0.0003	0.0003	0.0001	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	2.237e-05	0	0	0	0	8.995e-07	0.0001	0.0057	0.0002	0.0002	0.0002	0.0003	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	0.08	0.33585	T	0.115	0.36630	T	0.921	0.51088	P	0.455	0.46267	P	0.166690	0.17497	N	0.564860	0.999736	0.20548	N	0	0.06538	N	1.21	0.37230	T	-0.92	0.24676	N	0.075	0.04913	-1.0481	0.14932	T	0.040	0.17063	T	10	0.004811257	0.00102	T	.	.	.	0.060	0.17295	0.359	0.36222	0.0934897674506	0.08844	0.3201365188747313	0.31926	0.539162828098	0.51153	0.287214577198	0.08518	T	0.010581	0.15470	T	-0.524445	0.00414	T	-0.523216	0.19971	T	0.0603771436796204	0.07227	T	0.477152	0.14354	T	0.029966941	0.02580	0.04382768	0.05540	0.029966941	0.02579	0.04382768	0.05539	-4.074	0.24905	T	.	.	0.076	0.07841	B	.;.	.;.	2.048515	0.26042	16.98	0.98509143057487325	0.42313	0.14261	0.18308	N	AEFDBIJ	0.062163	0.11933	N	-0.432881094399584	0.24324	1.312582	-0.432023915751927	0.24064	1.315651	0.999915362342014	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	0.69	0.17203	0.030000	0.13576	0.157000	0.15360	-0.117000	0.14459	0.448000	0.26550	0.427000	0.24836	0.987000	0.62547	0.1462:0.3256:0.0:0.5282	4.305	0.10384	296	0.88164	START domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1506.33	33	chr2	96195459	.	T	A	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.546;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.535;SOR=0.689	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1335	18	0	1	0
chr2	96269282	96269282	G	A	exonic	CIAO1	.	nonsynonymous SNV	CIAO1:NM_004804:exon6:c.G706A:p.G236S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0224080713107	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776406200	2.736e-05	2.736e-05	2.042e-05	3.438e-05	0.0002	2.062e-05	1.816e-05	0.0001	8.645e-05	0	0	0	2.519e-05	0	0	2.158e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.13436	T	0.24	0.24406	T	0.029	0.19866	B	0.003	0.08700	B	0.428307	0.12781	N	0.766825	0.708062	0.33490	D	0.115	0.08564	N	-0.02	0.62918	T	-1.22	0.30964	N	0.26	0.29429	-0.9965	0.30892	T	0.087	0.33690	T	10	0.06930208	0.09925	T	0.022408	0.45296	T	0.042	0.11227	0.292	0.25400	0.347879110917	0.34393	0.24260482366837607	0.24174	0.353311194782	0.37138	0.378253251314	0.22007	T	0.069282	0.33671	T	-0.35083	0.04675	T	-0.46742	0.25795	T	0.0326656570895161	0.02415	T	0.690631	0.30012	T	0.026720745	0.01766	0.04408823	0.05634	0.026720745	0.01766	0.04408823	0.05634	-2.569	0.06271	T	.	.	0.072	0.04119	B	.	.	1.855662	0.23572	16.07	0.94868856477529262	0.25687	0.49111	0.28359	N	AEFBHCI	0.140691	0.26266	N	-0.934509696552784	0.10043	0.478063	-0.755880769677542	0.15578	0.8199872	0.999637992504603	0.41205	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.69	0.47	0.15957	0.813000	0.26883	2.524000	0.33135	-0.642000	0.04431	0.673000	0.28375	0.996000	0.32793	0.388000	0.26514	0.4581:0.0:0.5419:0.0	9.421	0.37718	291	0.88420	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	34	chr2	96269282	.	G	A	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=718;ExcessHet=0;FS=0.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.057;SOR=0.544	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	96284585	96284585	C	T	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I	Retinitis pigmentosa 33, Autosomal dominant	0	1411	103	8	0	119	0.0404624	0.9982	0.89	.	101450	not_specified|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0038	0.00419329	0.0053	0.0003	0.0040	0	0.0017	0.0065	0.0055	0.0092	0.0051746	800	154602	rs143898031	0.0045	0.0046	0.0043	0.0048	0.0495	0.0045	0.0044	0.0448	0.0430	0.0010	0.0045	0.0198	0	0.0007	0.0495	0.0039	0.0068	0.0101	0.0036	0.0036	0.0034	0.0039	0.0083	0.0034	0.0033	0.0063	0.0058	0.0007	0.0044	0.0073	0.0205	0.0002	0.0007	0.0476	0.0037	0.0104	0.0083	0.141	0.25560	T	0.159	0.31527	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	1.34	0.34841	T	-0.28	0.11547	N	0.291	0.32921	-1.1047	0.03567	T	0.026	0.11264	T	10	0.008113712	0.00184	T	0.008952	0.23583	T	0.062	0.17934	.	.	0.174091166621	0.17034	0.5685495379776625	0.56782	0.810597044278	0.66712	0.613193273544	0.54767	T	0.094437	0.39416	T	-0.457552	0.01018	T	-0.422057	0.30840	T	0.00818022676011606	0.00098	T	0.905909	0.66829	D	0.13796365	0.31925	0.070453815	0.14972	0.13796365	0.31925	0.070453815	0.14972	-6.034	0.46563	T	0.26735886023795424	0.36023	0.077	0.06295	B	.	.	3.656982	0.51934	23.2	0.99634088163219547	0.76203	0.96016	0.67153	D	AEFDBCI	0.560424	0.56884	D	-0.0620636731460172	0.39066	2.297824	0.168667584025889	0.48139	3.033977	0.999997737677715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.801000	0.68775	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.92:0.0:0.08	12.526	0.55431	291	0.88420	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038771	0.005051	0.039402	0.084795	0.000000	0.043103	0.030488	0.015152	0.02632	836.33	37	chr2	96284585	.	C	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=687;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.196;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1291	18	0	1	0
chr2	96289939	96289939	T	C	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon21:c.A2800G:p.T934A	Retinitis pigmentosa 33, Autosomal dominant	0	1491	27	4	0	35	0.0116009	.	.	YES	176954	Retinitis_pigmentosa_33|Retinal_dystrophy|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0002	0.00439297	0.0030	0.0002	0.0003	0	0	0.0006	0.0022	0.0196	0.0026584	411	154602	rs149616320	0.0014	0.0014	0.0009	0.0019	0.0166	0.0014	0.0013	0.0159	0.0156	8.961e-05	0.0003	0	0	1.872e-05	0.0047	0.0004	0.0015	0.0166	0.0010	0.0010	0.0008	0.0011	0.0166	0.0008	0.0008	0.0137	0.0126	0.0002	0	0.0002	0	0.0002	0	0.0034	0.0007	0.0014	0.0166	0.928	0.02262	T	0.834	0.03674	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	D	0.055481	0.999988	0.81001	D	0.63	0.15941	N	-0.25	0.67011	T	-1.47	0.35991	N	0.184	0.19995	-0.9045	0.47504	T	0.163	0.49963	T	10	0.010088056	0.00226	T	.	.	.	0.165	0.42395	.	.	0.436739265542	0.43292	0.5706196549623248	0.56989	0.94614905809	0.72416	0.64514040947	0.59295	T	0.226826	0.59195	T	-0.382492	0.03005	T	-0.30792	0.43882	T	0.0235686665673508	0.01092	T	0.781022	0.41604	T	0.32588062	0.55131	0.2603615	0.51798	0.32588062	0.55131	0.2603615	0.51797	-7.187	0.55388	T	0.1834308797246747	0.23745	0.067	0.02609	B	.	.	3.030621	0.40590	21.2	0.67612076650963937	0.08406	0.93456	0.58265	D	AEFDBCI	0.428187	0.49182	N	-0.252644075754081	0.30998	1.73384	-0.0173378992172096	0.38931	2.300858	0.999995431897257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	2.233000	0.42672	4.134000	0.42048	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.070	0.71702	291	0.88420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.100000	0.000000	0.003049	0.018939	0.02632	1783.33	33	chr2	96289939	.	T	C	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.426;DP=776;ExcessHet=0;FS=5.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.357;SOR=1.008	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1236	18	0	1	0
chr2	96326786	96326786	T	C	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.T179C:p.M60T,ITPRIPL1:NM_001163523:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001163524:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001324490:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001008949:exon3:c.T155C:p.M52T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0192640925957	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs777775962	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0001	8.31e-06	6.7e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	6.295e-06	1.656e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.089	0.27697	B	0.056	0.32230	B	0.001342	0.39310	N	0.000000	0.916534	0.27391	N	0.895	0.22405	L	1.74	0.26737	T	-5.26	0.84105	D	0.715	0.71765	-1.0505	0.14258	T	0.038	0.16505	T	10	0.10219425	0.18717	T	0.019264	0.41574	T	0.158	0.41098	0.316	0.29258	0.262175524916	0.25828	0.4323505643769283	0.43152	0.67402453772	0.59623	0.617793083191	0.55417	T	0.031095	0.21883	T	-0.236493	0.15800	T	-0.317803	0.42815	T	0.247297951146496	0.22752	T	0.682432	0.29103	T	0.13141795	0.30633	0.1397072	0.33324	0.13141795	0.30633	0.1397072	0.33324	-3.745	0.20461	T	.	.	0.924	0.84525	P	.;.;.;.	.;.;.;.	3.652690	0.51852	23.2	0.96886196495114829	0.31481	0.86868	0.46245	D	AEFDBI	0.293256	0.40393	N	-0.352032983159133	0.27197	1.490274	-0.211166261798151	0.31132	1.759145	0.999961460305204	0.48965	0.732398	0.92422	0	0.587265	0.34161	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.12	3.93	0.44666	1.148000	0.31226	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.2999:0.0:0.0:0.7001	8.843	0.34310	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1297.33	44	chr2	96326786	.	T	C	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=866;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.225;SOR=0.778	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	96327136	96327136	G	A	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G529A:p.D177N,ITPRIPL1:NM_001163523:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001163524:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001324490:exon2:c.G481A:p.D161N,ITPRIPL1:NM_001008949:exon3:c.G505A:p.D169N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00558482911478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.044	0.55759	D	0.0	0.07471	B	0.002	0.10090	B	0.160639	0.17674	N	0.418407	0.525751	0.31934	D	1.04	0.26193	L	2.27	0.17596	T	-3.62	0.69593	D	0.059	0.03069	-0.8327	0.53127	T	0.144	0.46714	T	10	0.17515224	0.32431	T	0.005585	0.14409	T	0.049	0.13647	0.214	0.13354	0.299086750705	0.29526	0.28578010142256716	0.28491	0.156659074234	0.17688	0.32191824913	0.13713	T	0.007	0.06517	T	-0.11828	0.33405	T	-0.407678	0.32492	T	0.347412616014481	0.26917	T	0.817618	0.47476	T	0.07478621	0.16806	0.04965615	0.07632	0.07478621	0.16806	0.04965615	0.07631	-2.984	0.10786	T	.	.	0.108	0.20508	B	.;.;.;.	.;.;.;.	3.925567	0.57339	23.8	0.8981176582912368	0.19122	0.94831	0.62480	D	AEFDBI	0.489439	0.52734	N	0.288845129259457	0.55582	3.722296	0.402351362852543	0.61709	4.375149	0.999999986436515	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	5.276000	0.65391	8.709000	0.78130	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.400	0.87347	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4200.33	305	chr2	96327136	.	G	A	4200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=1106;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.271;SOR=0.702	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	96359059	96359059	C	T	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon9:c.C815T:p.S272F,NCAPH:NM_001281710:exon10:c.C1190T:p.S397F,NCAPH:NM_001281711:exon10:c.C1151T:p.S384F,NCAPH:NM_015341:exon10:c.C1223T:p.S408F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0266646676479	.	.	8.244e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs781184446	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	1.872e-05	0	0	0	0	6.575e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.446e-05	0	0	0	0	0.039	0.42487	D	0.012	0.64786	D	0.845	0.51142	P	0.715	0.54683	P	0.001997	0.37503	N	0.299544	0.917273	0.36575	D	2.565	0.75005	M	0.9	0.45248	T	-2.67	0.57110	D	0.353	0.39457	-0.7648	0.57143	T	0.151	0.47839	T	10	0.4097519	0.56142	T	0.026665	0.49557	D	0.187	0.46274	0.527	0.63263	0.657716601585	0.65485	0.34899482327535075	0.34813	0.595800269434	0.54840	0.285329282284	0.08246	T	0.080629	0.36409	T	-0.135994	0.30531	T	-0.350257	0.39176	T	0.919990241527557	0.57895	D	0.836716	0.50835	T	0.14739774	0.33698	0.1363384	0.32618	0.14739774	0.33698	0.1363384	0.32617	-6.218	0.49400	T	0.3861195729084485	0.47990	0.120	0.28290	B	.;.;.;.	.;.;.;.	4.043689	0.59881	24.2	0.99751065264815963	0.84228	0.95705	0.65805	D	AEFBI	0.649663	0.62405	D	0.399603270905702	0.61400	4.340679	0.404529604045867	0.61848	4.39063	0.999932102773509	0.46732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.82	5.82	0.92740	5.282000	0.65421	4.874000	0.45597	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.1664:0.8335:0.0:0.0	12.524	0.55422	287	0.88635	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1238.33	33	chr2	96359059	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.374;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr2	96604271	96604271	A	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001349262:exon16:c.T1522G:p.S508A,KANSL3:NM_001115016:exon17:c.T2128G:p.S710A,KANSL3:NM_001349260:exon17:c.T1573G:p.S525A,KANSL3:NM_001349256:exon18:c.T2206G:p.S736A,KANSL3:NM_001349257:exon18:c.T2206G:p.S736A,KANSL3:NM_001349258:exon18:c.T2200G:p.S734A,KANSL3:NM_001349259:exon18:c.T1945G:p.S649A,KANSL3:NM_001349261:exon18:c.T1522G:p.S508A	.	423	1070	28	1	0	30	0.0138249	.	.	.	2812112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0071	0.00359425	0.0076	0.0018	0.0052	0	0.0099	0.0101	0.0081	0.0057	0.0072185	1116	154602	rs116798525	0.0083	0.0083	0.0082	0.0084	0.0158	0.0082	0.0081	0.0132	0.0122	0.0016	0.0060	0.0057	0	0.0101	0.0158	0.0091	0.0084	0.0056	0.0064	0.0065	0.0065	0.0064	0.0095	0.0061	0.0060	0.0089	0.0086	0.0013	0	0.0081	0.0084	0.0004	0.0081	0.0068	0.0095	0.0062	0.0054	0.269	0.16091	T	0.227	0.25362	T	0.057	0.22878	B	0.038	0.23361	B	0.014170	0.28613	N	0.396945	1	0.81001	D	.	.	.	0.61	0.53516	T	-0.87	0.23590	N	0.103	0.08646	-1.0854	0.06335	T	0.060	0.25090	T	10	0.0054763258	0.00121	T	.	.	.	0.025	0.05312	.	.	0.365710854667	0.36188	0.1756338456002082	0.17482	0.177105754943	0.19927	0.462651818991	0.33675	T	.	.	.	-0.455082	0.01054	T	-0.418509	0.31246	T	0.00415087224318446	0.00044	T	0.594241	0.21993	T	.	.	.	.	.	.	.	.	-3.44	0.15600	T	.	.	0.071	0.03773	B	.	.	2.511508	0.32436	19.04	0.9927431583880294	0.57661	0.91974	0.54667	D	AEFDBHCIJ	0.168493	0.29525	N	-0.338168762303963	0.27709	1.522483	-0.133476696145841	0.34050	1.954389	0.999991106496403	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.779548	0.98927	0	0.733575	0.97253	0	.	.	5.94	4.8	0.61157	2.269000	0.43005	7.044000	0.57347	0.756000	0.94297	0.984000	0.35821	1.000000	0.68203	0.981000	0.58702	0.9149:0.0:0.0851:0.0	8.682	0.33375	204	0.92044	.	STARD7-AS1	Pancreas	STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|STARD7|NCAPH	Adipose_Subcutaneous|Adrenal_Gland|Artery_Coronary|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Stomach|Vagina	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.023098	0.011696	0.000000	0.025862	0.024390	0.000000	0.05263	4975.81	34	chr2	96604271	.	A	C	4975.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.31;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	18	1	0	0
chr2	96619749	96619749	T	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001115016:exon4:c.A400G:p.M134V,KANSL3:NM_001349256:exon4:c.A400G:p.M134V,KANSL3:NM_001349257:exon4:c.A400G:p.M134V,KANSL3:NM_001349258:exon4:c.A400G:p.M134V,KANSL3:NM_001349259:exon4:c.A139G:p.M47V	.	433	1088	1	0	0	1	0.000459348	.	.	.	2716059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00466739238787	.	.	8.363e-05	0	0	0	0	9.297e-05	0	0.0001	3.88e-05	6	154602	rs370590181	2.208e-05	2.257e-05	1.687e-05	2.742e-05	0.0011	1.582e-05	1.378e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.479e-05	5.148e-05	2.514e-05	1.971e-05	1.97e-05	3.854e-05	0	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0.0005	0	0.589	0.05826	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010893	0.29744	N	0.401640	1	0.81001	D	-0.83	0.01527	N	1.12	0.38718	T	-0.09	0.08340	N	0.145	0.14622	-0.9915	0.32218	T	0.032	0.13592	T	10	0.02164501	0.00522	T	0.004667	0.11597	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.18248174036570855	0.18167	0.230142155962	0.25565	0.369675278664	0.20785	T	.	.	.	-0.42816	0.01521	T	-0.660463	0.08236	T	0.0134920640124277	0.00247	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	-0.586	0.00638	T	.	.	0.053	0.00259	B	.	.	0.280984	0.06578	3.068	0.77428874588156449	0.11872	0.33792	0.24913	N	AEFBI	0.116959	0.22933	N	-0.967343415335847	0.09307	0.439956	-0.807070427958418	0.14325	0.7478873	0.981082319076267	0.30215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	0.307	0.15057	-0.213000	0.09309	-1.734000	0.04824	-0.121000	0.13915	0.001000	0.13787	0.000000	0.08366	0.998000	0.85391	0.0:0.3389:0.1459:0.5152	5.363	0.15402	204	0.92044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	34	chr2	96619749	.	T	C	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.683;DP=740;ExcessHet=0;FS=1.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.495;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	18	0	1	0
chr2	96651892	96651892	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon7:c.G505A:p.V169I	.	428	1073	21	0	0	21	0.00969082	0.9833	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	.	0.00139776	0.0016	0	0	0	0	0.0003	0	0.0042	0.0003558	55	154602	rs551147801	0.0006	0.0006	0.0004	0.0008	0.0051	0.0006	0.0006	0.0047	0.0046	3.165e-05	0.0008	0.0010	0	0.0001	0.0040	0.0003	0.0010	0.0051	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	2.407e-05	0	0.0012	0.0017	0	0	0.0034	0.0003	0.0014	0.0041	.	.	.	1.0	0.01155	T	0.905	0.49920	P	0.805	0.58399	P	0.001259	0.39669	N	0.000000	.	.	.	1.315	0.32790	L	.	.	.	.	.	.	0.208	0.23125	-0.6983	0.60519	T	0.252	0.62154	T	7	0.008345634	0.00189	T	.	.	.	.	.	0.42	0.46200	0.0762999501168	0.06990	0.1784777294692949	0.17766	.	.	0.360017836094	0.19389	T	0.023363	0.17850	T	-0.2825	0.10405	T	-0.178576	0.56655	T	0.232966984635278	0.22092	T	0.682032	0.29555	T	0.08571195	0.19893	0.26364842	0.52174	0.08571195	0.19892	0.26364842	0.52173	-3.351	0.14404	T	.	.	0.129	0.32922	B	.;.;.	.;.;.	3.357735	0.46337	22.3	0.8940959130885785	0.18772	0.85141	0.44249	D	AEFBI	.	.	.	0.514035707327495	0.67921	5.14641	0.55623933869242	0.71832	5.715402	0.760659097695506	0.23504	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.075334	0.01956	0	0.976725	0.80079	5.69	5.69	0.88346	2.895000	0.48347	9.871000	0.82128	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	16.729	0.85290	202	0.92131	C2 domain|C2 domain;C2 domain|C2 domain|Ferlin, second C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.000000	0.000000	0.004310	0.000000	0.000000	0.012048	0.000000	0.02632	1831.33	33	chr2	96651892	.	G	A	1831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=806;ExcessHet=0;FS=2.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.204;SOR=0.92	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	18	0	1	0
chr2	96689738	96689738	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon26:c.G2620A:p.A874T	.	385	1098	37	2	0	41	0.0183281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0007	0.00219649	0.0057	0.0005	0	0.0017	0	0.0024	0.0172	0.0112	0.0007956	123	154602	rs200820148	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0093	0.0002	0.0009	0.0092	0.0004	2.055e-05	0.0061	0.0002	0.0019	0.0102	0.0008	0.0008	0.0005	0.0010	0.0099	0.0006	0.0006	0.0077	0.0069	0.0003	0	0.0010	0.0049	0.0004	0	0.0034	0.0002	0.0019	0.0099	.	.	.	0.2	0.33894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.10198	-0.9879	0.33126	T	0.089	0.34353	T	7	0.0031657815	0.00053	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.46933288399365947	0.46852	.	.	0.283456027508	0.07980	T	.	.	.	-0.517655	0.00454	T	-0.508391	0.21481	T	0.00570861671985965	0.00062	T	0.624238	0.24084	T	0.022747038	0.00960	0.11416561	0.27556	0.022747038	0.00960	0.11416561	0.27556	-4.91	0.35847	T	.	.	0.081	0.12655	B	.;.;.;.	.;.;.;.	1.528673	0.19615	14.35	0.7415529009742533	0.10590	0.16561	0.19446	N	AEFDBI	.	.	.	-0.952372442010241	0.09640	0.4570959	-0.939041153051163	0.11178	0.5678947	0.251354163830948	0.18683	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.295875	0.34619	5.28	3.49	0.39065	-0.153000	0.10130	1.816000	0.29002	-0.143000	0.12349	0.000000	0.06391	0.009000	0.19889	0.062000	0.16114	0.1711:0.0:0.6693:0.1596	5.365	0.15410	189	0.92630	Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007712	0.000000	0.000000	0.004505	0.083333	0.041667	0.027397	0.011905	0.02632	580.33	36	chr2	96689738	.	G	A	580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.188;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.686;SOR=0.869	GT:AD:DP:GQ:PL	0/1:20,25:45:99:594,0,488	18	0	1	0
chr2	96699651	96699651	T	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon43:c.T4712C:p.V1571A	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	.	.	.	.	.	.	0.327729	0.14166	U	0.571232	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.37197	-0.3890	0.72374	T	0.255	0.62507	T	8	0.27155256	0.44694	T	.	.	.	.	.	0.547	0.66156	0.115124310173	0.11017	0.7516688496969532	0.75113	.	.	0.424351990223	0.28435	T	.	.	.	0.026083	0.55199	T	-0.20031	0.54618	T	0.395594328641891	0.28776	T	0.963304	0.86380	D	0.073254876	0.16357	0.21336676	0.45844	0.073254876	0.16356	0.21336676	0.45843	-6.132	0.47371	T	.	.	0.265	0.56091	B	.;.;.;.	.;.;.;.	3.103382	0.41828	21.4	0.80896415409605515	0.13421	0.35694	0.25361	N	AEFBI	.	.	.	0.0956850067433394	0.46261	2.869229	0.0287700086971241	0.41058	2.460319	0.998427502813618	0.36942	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.050693	0.00103	0	0.811976	0.48258	5.29	4.14	0.47821	0.861000	0.27540	5.109000	0.47498	0.665000	0.62972	0.026000	0.20160	0.999000	0.35428	0.994000	0.71098	0.0:0.1678:0.0:0.8322	7.973	0.29302	187	0.92701	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1253.33	35	chr2	96699651	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.04;DP=757;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.366;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr2	96826911	96826911	T	C	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_199078:exon2:c.T1304C:p.V435A,CNNM3:NM_017623:exon3:c.T1448C:p.V483A	.	430	1091	1	0	0	1	0.000458085	.	.	.	2346314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0243315530253	.	0.000599042	0.0003	0	0.0007	0	0	0.0004	0.0011	6.057e-05	0.0002717	42	154602	rs144405040	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	0.0002	0.0015	3.826e-05	0	0	0.0003	0.0003	0.0006	0.0001	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0019	0.0017	0.0001	0	0.0025	0	0	0	0	0.0003	0.0005	0	0.703	0.04134	T	0.957	0.04619	T	0.055	0.22733	B	0.089	0.29769	B	0.060139	0.22271	N	0.433417	0.953428	0.26404	N	2.19	0.61577	M	-2.34	0.89953	D	-0.64	0.18670	N	0.237	0.26717	-0.7968	0.55333	T	0.326	0.69410	T	10	0.004407227	0.00090	T	0.024332	0.47317	T	0.171	0.43483	.	.	0.0846915920261	0.08053	0.4019376065826426	0.40109	.	.	0.362865149975	0.19803	T	0.02732	0.20035	T	-0.321116	0.06807	T	-0.279589	0.46845	T	0.0327118191974711	0.02424	T	0.736326	0.36121	T	0.01750225	0.00278	0.024706122	0.00495	0.01750225	0.00278	0.024706122	0.00495	-4.992	0.36753	T	.	.	0.149	0.32922	B	.;.	.;.	1.177027	0.15673	12.02	0.78980832217438079	0.12537	0.15331	0.18859	N	AEFBI	0.081996	0.16597	N	-0.948205390937055	0.09733	0.4619365	-0.856369135430595	0.13135	0.6797102	0.773114624832324	0.23706	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	-1.34	0.08665	-0.061000	0.11650	1.020000	0.23398	-0.109000	0.15193	0.145000	0.23581	1.000000	0.68203	0.998000	0.85391	0.0976:0.0702:0.487:0.3453	6.022	0.18863	128	0.94857	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1275.33	36	chr2	96826911	.	T	C	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.065;DP=723;ExcessHet=0;FS=4.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.209;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.015152	0.027174	0.043860	0.000000	0.034483	0.009146	0.015152	0.02632	1279.33	42	chr2	96842402	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.268;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1339	18	0	1	0
chr2	96857983	96857983	G	A	exonic	ANKRD39	.	nonsynonymous SNV	ANKRD39:NM_016466:exon1:c.C5T:p.A2V	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.924015195089	0.0018	0.000798722	0.0024	0	0.0021	0	0.0058	0.0059	0	0.0001	0.001216	188	154602	rs200576046	0.0020	0.0020	0.0021	0.0020	0.0064	0.0020	0.0019	0.0048	0.0042	0.0005	0.0006	0.0024	0	0.0010	0.0064	0.0023	0.0019	0.0002	0.0015	0.0015	0.0017	0.0013	0.0026	0.0014	0.0013	0.0023	0.0021	0.0005	0	0.0006	0.0014	0	0.0009	0.0240	0.0026	0.0024	0.0002	0.0	0.91255	D	0.115	0.36630	T	0.989	0.62824	D	0.358	0.43079	B	0.001751	0.38106	U	0.101047	0.855429	0.28435	N	2.24	0.63355	M	-0.25	0.67011	T	-1.26	0.31778	N	0.165	0.17416	-0.5739	0.65860	T	0.228	0.59309	T	10	0.01957041	0.00439	T	0.924015	0.99443	D	0.232	0.53354	.	.	0.784192324939	0.78219	0.4955871684034741	0.49479	0.734712489315	0.62915	0.655134141445	0.60715	T	0.032949	0.22707	T	-0.296773	0.08968	T	-0.202748	0.54385	T	0.0527603069960655	0.05979	T	0.433957	0.11861	T	0.31874722	0.54534	0.54148823	0.73500	0.31874722	0.54534	0.54148823	0.73501	-6.139	0.47427	T	.	.	0.196	0.41723	B	.	.	3.598466	0.50813	23.0	0.9987119828420149	0.94902	0.03074	0.07987	N	ALL	0.205951	0.33225	N	0.0874469861908864	0.45879	2.837053	0.0300529917057093	0.41117	2.464954	0.999999999999991	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.81	4.81	0.61401	0.187000	0.16806	8.420000	0.77146	0.673000	0.70640	0.001000	0.13787	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	13.255	0.59500	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004639	0.000000	0.008242	0.005882	0.000000	0.000000	0.000000	0.003817	0.02632	584.33	35	chr2	96857983	.	G	A	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=698;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.447;SOR=0.49	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1156	18	0	1	0
chr2	96861872	96861872	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon13:c.G1466A:p.R489H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00759029788918	.	.	1.083e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs779891089	6.853e-06	6.84e-06	6.818e-06	6.889e-06	5.399e-06	3.47e-06	2.53e-06	1.94e-06	1.28e-06	0	0	3.833e-05	0	0	0	5.399e-06	4.975e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.531	0.07002	T	0.545	0.09588	T	0.004	0.12183	B	0.002	0.06944	B	0.008098	0.31024	N	0.318421	0.99951	0.47363	D	0.69	0.16971	N	1.53	0.30401	T	-0.05	0.07736	N	0.221	0.24758	-1.0887	0.05752	T	0.043	0.18576	T	10	0.052056104	0.05182	T	0.00759	0.20139	T	0.021	0.04004	0.435	0.48664	0.138757226776	0.13463	0.5235242594536705	0.52276	0.357119935229	0.37442	0.231879174709	0.02110	T	0.082023	0.36733	T	-0.384965	0.02897	T	-0.604848	0.12406	T	0.0544302017820455	0.06262	T	0.221078	0.02846	T	0.02840371	0.02172	0.025984703	0.00665	0.02840371	0.02171	0.025984703	0.00665	-2.631	0.06742	T	.	.	0.075	0.05360	B	.	.	2.049495	0.26056	16.98	0.89397541995882523	0.18762	0.59177	0.30843	D	AEFDBCI	0.123820	0.23960	N	-0.894033580014989	0.10983	0.527665	-0.773488925662589	0.15146	0.7951203	0.999299134858588	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.93	3.16	0.35406	1.021000	0.29642	-0.135000	0.11577	-0.800000	0.03169	0.020000	0.19661	0.153000	0.23196	0.387000	0.26492	0.0:0.6506:0.0:0.3494	6.676	0.22285	115	0.95340	Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	373.33	36	chr2	96861872	.	C	T	373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.198;SOR=0.701	GT:AD:DP:GQ:PL	0/1:29,15:44:99:387,0,761	18	0	1	0
chr2	96877946	96877946	G	T	exonic	FAM178B	.	nonsynonymous SNV	FAM178B:NM_001172667:exon4:c.C328A:p.L110M,FAM178B:NM_016490:exon4:c.C271A:p.L91M,FAM178B:NM_001122646:exon16:c.C1951A:p.L651M	.	431	1087	4	0	0	4	0.00183655	.	.	.	2373938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.120034292365	.	0.000199681	0.0001	0	0	0	0	3.059e-05	0	0.0007	9.06e-05	14	154602	rs552281954	5.474e-05	5.472e-05	2.995e-05	7.977e-05	0.0009	4.478e-05	4.148e-05	0.0006	0.0005	0	0	0	0	0	0.0009	7.194e-06	8.28e-05	0.0007	3.281e-05	3.28e-05	5.137e-05	1.342e-05	0.0004	1.26e-05	7.97e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0004	0.005	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.950386	0.26506	N	.	.	.	-0.09	0.67543	T	-1.87	0.43717	N	0.491	0.52475	-0.4560	0.70201	T	0.461	0.79072	T	9	0.13193017	0.25110	T	0.120034	0.80048	D	0.290	0.60924	.	.	0.507748507896	0.50414	0.33121652795149553	0.33034	0.385509509165	0.39847	0.422740221024	0.28214	T	.	.	.	-0.251698	0.13891	T	-0.21231	0.53473	T	0.398106604814529	0.28871	T	0.687731	0.30552	T	.	.	.	.	.	.	.	.	-6.228	0.48149	T	.	.	0.139	0.34339	B	.;.	.;.	2.895563	0.38363	20.7	0.99563909022103358	0.71953	0.72560	0.35511	D	AEFDBHCIJ	0.441240	0.49947	N	0.324816931444091	0.57425	3.90975	0.268048651721663	0.53683	3.53606	0.999999004128913	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.463000	0.34887	3.895000	0.40316	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0962:0.0:0.9038:0.0	9.749	0.39633	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1445.33	34	chr2	96877946	.	G	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=775;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.094;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr2	97091553	97091553	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G154A:p.V52I,FAHD2B:NM_199336:exon2:c.G154A:p.V52I,FAHD2B:NM_001320848:exon3:c.G154A:p.V52I	.	422	1063	35	2	0	39	0.0180139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00173163364902	.	.	0.0042	0.0010	0.0058	0	0.0014	0.0058	0.0033	0.0019	0.000414	64	154602	rs201241480	0.0053	0.0062	0.0055	0.0051	0.0166	0.0052	0.0051	0.0139	0.0129	0.0015	0.0042	0.0102	2.519e-05	0.0015	0.0166	0.0059	0.0061	0.0014	0.0048	0.0049	0.0051	0.0046	0.0078	0.0045	0.0044	0.0067	0.0062	0.0013	0	0.0078	0.0121	0	0.0025	0.0374	0.0067	0.0072	0.0021	0.949	0.02151	T	0.918	0.02891	T	0.004	0.12183	B	0.006	0.12133	B	0.000023	0.55875	D	0.069098	0.94745	0.26600	N	1.745	0.45235	L	1.45	0.32482	T	0.21	0.04776	N	0.2	0.22098	-0.9844	0.33975	T	0.017	0.07140	T	10	0.00686273	0.00156	T	0.001732	0.02908	T	0.068	0.19811	.	.	0.115124310173	0.11017	0.19258797205350334	0.19176	1.16890855372	0.79700	0.578303396702	0.49846	T	0.003811	0.03222	T	-0.270776	0.11670	T	-0.626728	0.10663	T	0.000679144243674442	0.00006	T	0.59684	0.22194	T	0.01966555	0.00501	0.034362644	0.02489	0.01966555	0.00501	0.034362644	0.02489	-3.404	0.15110	T	.	.	0.076	0.06069	B	.;.	.;.	-0.358622	0.02371	0.260	0.2118341943439164	0.00796	0.15989	0.19178	N	AEFI	0.073248	0.14644	N	-1.10502397537055	0.06553	0.301989	-1.13329804189448	0.07071	0.3426243	4.67086552133833E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-1.41	0.08473	1.171000	0.31505	-0.204000	0.10916	-1.152000	0.01424	0.795000	0.29657	0.000000	0.08366	0.190000	0.21601	0.0:0.6841:0.3159:0.0	6.207	0.19821	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016437	0.015152	0.021739	0.028689	0.000000	0.017241	0.012270	0.000000	0.02632	1638.33	57	chr2	97091553	.	C	T	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1030;ExcessHet=0;FS=10.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.43;MQRankSum=-4.538;QD=6.45;ReadPosRankSum=-1.257;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1335:.	18	0	1	0
chr2	97091559	97091559	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G148A:p.G50R,FAHD2B:NM_199336:exon2:c.G148A:p.G50R,FAHD2B:NM_001320848:exon3:c.G148A:p.G50R	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00185952859811	.	.	0.0042	0.0010	0.0060	0	0.0014	0.0058	0.0033	0.0019	0.000401	62	154602	rs201521399	0.0052	0.0062	0.0053	0.0050	0.0166	0.0051	0.0050	0.0139	0.0129	0.0015	0.0043	0.0104	2.519e-05	0.0016	0.0166	0.0057	0.0058	0.0013	0.0048	0.0049	0.0050	0.0046	0.0077	0.0045	0.0044	0.0065	0.0061	0.0014	0	0.0077	0.0121	0	0.0026	0.0374	0.0066	0.0076	0.0021	0.108	0.29420	T	0.083	0.41405	T	0.025	0.19245	B	0.013	0.16460	B	0.062582	0.22087	N	0.466822	0.692741	0.30176	N	2.465	0.71551	M	1.51	0.30937	T	-3.74	0.71042	D	0.307	0.34659	-1.0756	0.08225	T	0.032	0.13811	T	10	0.006063968	0.00136	T	0.00186	0.03245	T	0.053	0.14996	0.536	0.64585	0.242244723065	0.23846	0.4310816599483757	0.43025	1.64272014905	0.89387	0.510626316071	0.40310	T	0.118203	0.43885	T	-0.182537	0.23358	T	-0.499978	0.22349	T	0.0192758174834097	0.00633	T	0.677032	0.28590	T	0.11903311	0.28036	0.12738456	0.30665	0.11903311	0.28035	0.12738456	0.30664	-3.809	0.20939	T	.	.	0.093	0.16054	B	.;.	.;.	1.691139	0.21548	15.25	0.7587086688925444	0.11243	0.08906	0.14763	N	AEFI	0.076863	0.15473	N	-0.714474486073387	0.15613	0.7884411	-0.804707894553468	0.14382	0.75116	1.70633620179861E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-0.396	0.11808	1.903000	0.39488	-0.078000	0.12213	0.181000	0.17804	0.312000	0.25432	0.000000	0.08366	0.384000	0.26424	0.0:0.7212:0.0:0.2788	4.755	0.12452	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015924	0.015152	0.021739	0.024590	0.000000	0.017241	0.012346	0.000000	0.02632	1618.33	57	chr2	97091559	.	C	T	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=1028;ExcessHet=0;FS=10.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.13;MQRankSum=-4.318;QD=6.53;ReadPosRankSum=-0.713;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1335:.	18	0	1	0
chr2	97113741	97113741	T	A	exonic	ANKRD36	.	startloss	ANKRD36:NM_001354587:exon1:c.T2A:p.M1?,ANKRD36:NM_198555:exon1:c.T2A:p.M1?	.	419	1085	17	1	0	19	0.00867976	.	.	.	2812121	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00106518764044	.	.	0.0007	0	0.0009	0	0.0005	0.0009	0.0011	0.0002	0.0001229	19	154602	rs200032015	0.0011	0.0016	0.0011	0.0012	0.0070	0.0011	0.0011	0.0052	0.0047	8.962e-05	0.0016	0.0002	2.557e-05	0.0011	0.0070	0.0012	0.0021	0.0006	0.0022	0.0023	0.0023	0.0021	0.0035	0.0020	0.0020	0.0031	0.0029	0.0006	0	0.0030	0	0.0002	0.0012	0.0204	0.0035	0.0043	0.0008	0.001	0.78490	D	0.003	0.76473	D	0.051	0.22415	B	0.006	0.12133	B	.	.	.	.	0.99999	0.08975	N	.	.	.	1.46	0.32238	T	0.12	0.05604	N	0.227	0.27792	-0.9921	0.32063	T	0.053	0.22346	T	7	0.01968062	0.00443	T	0.001065	0.01215	T	0.052	0.14661	.	.	0.227934060464	0.22382	.	.	.	.	.	.	.	8.56E-4	0.00427	T	-0.539227	0.00339	T	-0.613459	0.11706	T	0.00988814057269051	0.00131	T	0.9	0.65058	D	0.44090632	0.63461	0.4275052	0.66493	0.44090632	0.63461	0.4275052	0.66494	-8.821	0.66538	D	.	.	.	.	.	.;.;.;.	.;.;.;.	0.655734	0.10239	6.978	0.76167093785279882	0.11360	0.03592	0.08815	N	ALL	0.008833	0.00045	N	-1.24055682125328	0.04425	0.199695	-1.40772010868346	0.03174	0.1475413	0.999398086805947	0.39470	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-1.847000	0.01767	-0.970000	0.06749	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005285	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.015152	0.02632	2516.33	176	chr2	97113741	.	T	A	2516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.93;DP=805;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.91;MQRankSum=-11.14;QD=14.3;ReadPosRankSum=-3.358;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1322:.	18	0	1	0
chr2	97113750	97113750	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.G11A:p.G4D,ANKRD36:NM_198555:exon1:c.G11A:p.G4D	.	420	1061	22	1	18	42	0.0111836	.	.	.	2812122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00115918542162	.	.	0.0003	0	0.0005	0	0	0.0005	0	6.072e-05	0.0002911	45	154602	rs2315151	0.0012	0.0017	0.0011	0.0012	0.0070	0.0011	0.0011	0.0053	0.0047	0.0001	0.0018	0.0001	2.557e-05	0.0008	0.0070	0.0012	0.0021	0.0006	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0006	0	0.0031	0	0.0006	0.0009	0.0205	0.0034	0.0043	0.0008	0.961	0.02093	T	0.873	0.03589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.47	0.31987	T	-0.83	0.22727	N	0.116	0.18920	-1.0277	0.21200	T	0.030	0.12717	T	8	0.0074519515	0.00169	T	0.001159	0.01459	T	0.017	0.02790	.	.	0.0297737177859	0.01360	.	.	.	.	0.540459513664	0.44510	T	0.005871	0.05316	T	-0.686301	0.00044	T	-0.763838	0.02977	T	0.000916655189181022	0.00009	T	0.20228	0.02325	T	0.08302275	0.19152	0.13654648	0.32662	0.08302275	0.19151	0.13654648	0.32661	-4.103	0.25335	T	.	.	0.079	0.35435	B	.;.;.;.	.;.;.;.	-0.609451	0.01547	0.101	0.76287701801026975	0.11407	0.01420	0.04791	N	ALL	0.017382	0.00452	N	-2.08254664144961	0.00140	0.005981055	-2.17440596492091	0.00128	0.005612994	0.999994122269243	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-1.086000	0.03497	-4.491000	0.02129	-0.593000	0.04642	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006871	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.015152	0.02632	2962.33	200	chr2	97113750	.	G	A	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.41;MQRankSum=-10.49;QD=14.81;ReadPosRankSum=-2.713;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1322:.	18	0	1	0
chr2	97113752	97113752	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon1:c.A13G:p.K5E,ANKRD36:NM_198555:exon1:c.A13G:p.K5E	.	430	1070	21	1	0	23	0.0106334	.	.	.	2812123	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00165992481869	.	.	0.0004	0	0.0005	0	0	0.0006	0	0.0001	3.88e-05	6	154602	rs774044606	0.0012	0.0017	0.0012	0.0013	0.0075	0.0012	0.0011	0.0057	0.0051	0.0001	0.0018	0.0001	2.556e-05	0.0008	0.0075	0.0013	0.0022	0.0007	0.0025	0.0026	0.0026	0.0024	0.0041	0.0023	0.0022	0.0036	0.0035	0.0006	0	0.0034	0	0.0006	0.0015	0.0207	0.0041	0.0048	0.0009	1.0	0.00964	T	1.0	0.07617	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	1.41	0.33412	T	0.67	0.02263	N	0.038	0.05929	-1.0291	0.20746	T	0.030	0.12760	T	8	0.008763403	0.00198	T	0.00166	0.02728	T	0.010	0.01040	.	.	0.0762999501168	0.06990	.	.	.	.	0.503748595715	0.39350	T	0.00329	0.02698	T	-0.388821	0.02738	T	-0.796291	0.01997	T	0.0041556169877256	0.00044	T	0.228877	0.03057	T	0.06290562	0.13190	0.098388776	0.23454	0.06290562	0.13189	0.098388776	0.23454	-2.875	0.08896	T	.	.	0.076	0.44872	B	.;.;.;.	.;.;.;.	-1.401056	0.00359	0.006	0.1199548739821252	0.00196	0.01015	0.03823	N	ALL	0.014133	0.00214	N	-1.83159160776058	0.00472	0.02032915	-1.92702046445657	0.00433	0.019136	0.999831654930162	0.43792	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	0.453	-0.905	0.09992	-4.521000	0.00254	-3.530000	0.02717	-3.502000	0.00080	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	224	0.91330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008985	0.000000	0.004076	0.000000	0.000000	0.008621	0.015244	0.026515	0.05263	4887.83	198	chr2	97113752	.	A	G	4887.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=983;ExcessHet=0.119;FS=0.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.08;MQRankSum=-1.888;QD=12.97;ReadPosRankSum=-0.562;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1322:.	17	0	2	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,17:121:99:0|1:97185336_GC_G:401,0,4316:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,17:122:99:0|1:97185336_GC_G:398,0,4358:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,17:122:99:0|1:97185336_GC_G:398,0,4358:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,17:126:99:0|1:97185336_GC_G:386,0,4522:97185336	2	0	17	0
chr2	97185463	97185463	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon30:c.C1994T:p.A665V	.	473	1039	9	1	0	11	0.00526568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000856481893255	.	.	1.028e-05	0	0	0	0	0	0	7.184e-05	6.5e-06	1	154602	rs75833559	6.854e-07	1.368e-06	1.364e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.231	0.25061	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.28	0.17271	T	-0.12	0.08809	N	0.032	0.00825	-0.9609	0.39012	T	0.011	0.04181	T	9	0.024200886	0.00658	T	8.56E-4	0.00734	T	0.014	0.01968	.	.	0.0138822411134	0.00435	.	.	.	.	0.743070244789	0.73424	T	0.009014	0.08238	T	-0.403894	0.02183	T	-0.817942	0.01494	T	0.0093427544450017	0.00119	T	0.645735	0.25721	T	0.01868397	0.00391	0.033223134	0.02182	0.01868397	0.00391	0.033223134	0.02182	0.645	0.00185	T	.	.	0.086	0.24123	B	.;.	.;.	-0.742138	0.01226	0.062	0.12259307603739275	0.00208	0.00022	0.00232	N	AEFBI	0.011068	0.00091	N	-1.92734804361364	0.00301	0.01294208	-1.94461049785471	0.00398	0.01761863	1.54412391909507E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.2	-1.87	0.07317	-0.125000	0.10555	0.003000	0.13321	-0.635000	0.04468	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4714:0.0:0.5286	4.360	0.10632	216	0.91608	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	64.01	177	chr2	97185463	.	C	T	64.01	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.92;DP=2578;ExcessHet=0.119;FS=39.003;InbreedingCoeff=-0.12;MLEAC=2;MLEAF=0.063;MQ=49.4;MQRankSum=-5.535;QD=0.3;ReadPosRankSum=-2.624;SOR=3.247	GT:AD:DP:GQ:PL	./.:132,0:132:0:0,0,3435	14	0	2	3
chr2	97191130	97191130	T	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon36:c.T2296G:p.S766A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0123279931647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.117	0.36365	T	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	-1.12	0.77593	T	-0.72	0.20358	N	0.077	0.07125	-0.7453	0.58180	T	0.334	0.70117	T	9	0.10382989	0.19110	T	0.012328	0.30806	T	0.226	0.52472	0.111	0.02112	0.379193981924	0.37526	.	.	.	.	0.723955571651	0.70624	T	0.00522	0.04667	T	-0.188558	0.22471	T	-0.508627	0.21457	T	0.329386591911316	0.26200	T	0.720328	0.34232	T	0.07056233	0.15554	0.07619968	0.16853	0.07056233	0.15553	0.07619968	0.16852	-9.803	0.72724	D	.	.	0.142	0.31330	B	.;.	.;.	0.528896	0.08976	5.758	0.94468059427165152	0.24913	0.00799	0.03256	N	AEFBI	0.024586	0.01546	N	-0.724435315588378	0.15337	0.7720038	-0.98420814216891	0.10140	0.5088098	9.02244248594929E-6	0.01202	0.428477	0.06694	0	0.446627	0.06534	0	0.547309	0.15389	0	0.322989	0.05693	1	.	.	0.926	-0.386	0.11846	-1.484000	0.02422	-2.207000	0.04057	-0.583000	0.04693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3106:0.0:0.6894	2.979	0.05584	210	0.91826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	34	chr2	97191130	.	T	G	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=652;ExcessHet=0;FS=4.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-1.901;SOR=1.432	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	97196788	97196788	G	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon42:c.G2653C:p.V885L	.	548	972	2	0	0	2	0.00102775	1.0000	0.876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413627419	5.021e-06	6.156e-06	4.249e-06	5.813e-06	5.56e-06	2.09e-06	1.34e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	1.723e-05	0	6.582e-06	6.569e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.0	0.91255	D	0.069	0.43913	T	0.734	0.42776	P	0.55	0.49239	P	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-1.14	0.77843	T	-0.16	0.09460	N	0.12	0.11054	-0.6115	0.64341	T	0.428	0.77101	T	8	0.15589231	0.29371	T	0.007485	0.19846	T	0.189	0.46613	0.076	0.00544	0.514811571519	0.51123	.	.	.	.	0.732054591179	0.71807	T	0.002366	0.01759	T	-0.234497	0.16060	T	-0.446837	0.28048	T	0.195064420463176	0.20139	T	0.569643	0.20837	T	0.24145216	0.47061	0.2600372	0.51761	0.24145216	0.47061	0.2600372	0.51760	-8.207	0.62472	D	.	.	0.442	0.61806	A	.;.	.;.	3.602124	0.50884	23.0	0.86650243096674007	0.16679	0.25467	0.22707	N	AEFGBI	0.070875	0.14085	N	-0.409246735889057	0.25145	1.362777	-0.607367550776906	0.19304	1.035073	0.0590397470283429	0.15147	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.192219	0.04218	2	.	.	0.673	0.673	0.17109	1.873000	0.39195	2.559000	0.33304	0.323000	0.19410	0.994000	0.38300	1.000000	0.68203	0.032000	0.13371	.	.	.	207	0.91931	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	43	chr2	97196788	.	G	C	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.753;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.07;SOR=0.7	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr2	97217352	97217352	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon64:c.G3755A:p.G1252D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00178122432125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	1.368e-06	0	1.45e-06	1.266e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.697	0.05786	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	0.62	0.53302	T	-0.52	0.16187	N	0.042	0.01498	-1.0525	0.13709	T	0.035	0.14857	T	8	0.06608343	0.09011	T	0.001781	0.03037	T	0.029	0.06676	0.351	0.34922	0.0297737177859	0.01360	.	.	.	.	0.575203418732	0.49410	T	7.11E-4	0.00326	T	-0.336777	0.05614	T	-0.721534	0.04722	T	0.0483558394652632	0.05207	T	0.374563	0.08910	T	0.051813785	0.09572	0.09743006	0.23190	0.051813785	0.09572	0.09743006	0.23190	.	.	.	.	.	0.136	0.29724	B	.;.	.;.	-1.978316	0.00106	0.002	0.43911570116371529	0.03339	0.00034	0.00302	N	AEFBI	0.013973	0.00205	N	-1.96103376664724	0.00256	0.01098617	-2.01166704167269	0.00289	0.0127759	7.11441546047313E-5	0.04552	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	0.569	-1.14	0.09241	-1.289000	0.02888	-1.280000	0.05829	-4.540000	0.00026	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	205	0.92010	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	180.33	74	chr2	97217352	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1625;ExcessHet=0;FS=2.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.26;MQRankSum=-4.219;QD=1.8;ReadPosRankSum=0.196;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:99:.:.:0,120,1800:.	18	0	1	0
chr2	97243941	97243941	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4403A:p.R1468K	.	591	875	55	1	0	57	0.031544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00111599007646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436849374	6.883e-07	1.369e-06	0	1.384e-06	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.321	0.19073	T	0.188	0.29318	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	2.34	0.16351	T	-0.84	0.22944	N	0.124	0.11626	-1.0172	0.24625	T	0.027	0.11618	T	9	0.0719215	0.10666	T	0.001116	0.01336	T	0.007	0.00512	.	.	0.0611884634855	0.05136	.	.	.	.	0.696967959404	0.66706	T	0.002586	0.01974	T	-0.358284	0.04228	T	-0.752427	0.03392	T	0.0658219197223839	0.08052	T	0.567243	0.20104	T	0.05432452	0.10408	0.052856594	0.08789	0.05432452	0.10408	0.052856594	0.08789	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	-0.510566	0.01833	0.146	0.79641931180110503	0.12834	0.00665	0.02874	N	AEFI	0.033355	0.03938	N	-1.01331001360076	0.08327	0.3900481	-1.1679063988186	0.06452	0.310638	1.33660293609482E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.467	0.15933	-0.785000	0.04735	-1.647000	0.04992	-0.644000	0.04415	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2058:0.0:0.7942:0.0	5.569	0.16468	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.93	36	chr2	97243941	.	G	A	65.93	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.03;DP=940;ExcessHet=0;FS=41.626;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.028;MQ=40.72;MQRankSum=-1.696;QD=0.43;ReadPosRankSum=-1.515;SOR=5.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1375:.	17	0	1	1
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	298.09	36	chr2	97243955	.	G	A	298.09	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1574;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.092;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.61;ReadPosRankSum=-1.56;SOR=8.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1375:.	16	0	3	0
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	324.11	36	chr2	97243956	.	T	C	324.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.47;DP=1573;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.0926;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.66;ReadPosRankSum=-1.32;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1375:.	16	0	3	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1375:.	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1375:.	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,9:116:16:0|1:97243989_C_T:16,0,4466:97243989	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,79:186:99:0|1:97513219_T_C:2995,0,4255:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,85:199:99:0|1:97513219_T_C:3217,0,4531:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,105:229:99:0|1:97513244_G_T:4036,0,4789:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,113:237:99:0|1:97513244_G_T:4331,0,4840:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,113:237:99:0|1:97513244_G_T:4331,0,4840:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,125:256:99:0|1:97513268_C_T:4854,0,5124:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,126:257:99:0|1:97513268_C_T:4896,0,5121:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,127:259:99:0|1:97513268_C_T:4915,0,5140:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,129:260:99:0|1:97513268_C_T:4962,0,5052:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:91,63:154:99:1362,0,2172	0	0	19	0
chr2	97532378	97532378	T	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon35:c.A2198C:p.Q733P	.	851	661	4	6	0	16	0.0119581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0063	0	0.0033	0	0	0.0104	0.0263	0.0061	0.000194	30	154602	rs200165552	0.0039	0.0032	0.0036	0.0041	0.0432	0.0037	0.0037	0.0366	0.0341	0.0021	0.0028	0.0183	0	0	0.0432	0.0033	0.0078	0.0046	0.0034	0.0034	0.0034	0.0035	0.0048	0.0031	0.0030	0.0042	0.0040	0.0007	0	0.0044	0.0197	0	0	0.0211	0.0048	0.0076	0.0041	.	.	.	0.029	0.54541	D	0.797	0.44809	P	0.064	0.27215	B	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.047	0.07398	.	.	.	.	.	.	.	0.0049084425	0.00105	T	.	.	.	.	.	.	.	0.29132392195	0.28731	0.01527620853014781	0.01483	.	.	0.608801245689	0.54146	T	0.005835	0.05277	T	-0.0895418	0.38151	T	-0.366397	0.37311	T	.	.	.	0.522848	0.17479	T	0.12447194	0.29203	0.23109838	0.48231	0.12447194	0.29203	0.23109838	0.48230	-3.71	0.19466	T	.	.	0.135	0.32661	B	.;.;.	.;.;.	0.951506	0.13275	9.778	0.68154009143421568	0.08571	0.00176	0.01036	N	AEFI	.	.	.	.	.	.	.	.	.	7.73258317692177E-6	0.01202	0.262962	0.04601	0	0.195528	0.04277	0	0.183335	0.04453	0	0.330827	0.05736	0	0.081692	0.18706	1.39	-2.79	0.05494	0.141000	0.15897	-0.146000	0.11468	0.297000	0.18867	0.358000	0.25825	0.000000	0.08366	0.234000	0.22842	0.2819:0.0:0.4823:0.2358	2.990	0.05617	270	0.89404	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045627	0.056818	0.045662	0.113636	0.000000	0.088235	0.000000	0.010870	0.06667	734.34	14	chr2	97532378	.	T	G	734.34	.	AC=2;AF=0.067;AN=30;DP=301;ExcessHet=0;FS=0;InbreedingCoeff=0.9953;MLEAC=2;MLEAF=0.067;MQ=44.41;QD=28.24;SOR=1.022	GT:AD:DP:GQ:PL	./.:.:.:.:.	14	1	0	4
chr2	97545720	97545720	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon24:c.G1627A:p.D543N	.	631	878	2	11	0	24	0.0134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0401358	0.0032	0.0099	0.0011	0.0021	0.0014	0.0045	0	8.249e-05	0.0049353	763	154602	rs202068566	0.0015	0.0079	0.0015	0.0015	0.0101	0.0015	0.0014	0.0091	0.0088	0.0101	0.0003	0	0	0.0412	0	2.835e-05	0.0008	7.536e-05	0.0038	0.0045	0.0043	0.0034	0.0108	0.0035	0.0034	0.0099	0.0095	0.0108	0	0.0008	0	0	0.0005	0	5.603e-05	0.0030	0.0002	.	.	.	0.173	0.30143	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.695	0.17993	N	.	.	.	.	.	.	0.398	0.43899	.	.	.	.	.	.	.	0.005491048	0.00121	T	.	.	.	.	.	.	.	0.185906805712	0.18197	4.16050493205468E-4	0.00037	.	.	0.743850827217	0.73540	T	0.023296	0.17808	T	-0.0319045	0.47140	T	-0.283605	0.46435	T	.	.	.	0.557944	0.24174	T	0.05115556	0.09351	0.0730632	0.15835	0.05115556	0.09350	0.0730632	0.15835	-5.803	0.44600	T	.	.	0.114	0.31882	B	.;.;.	.;.;.	2.046137	0.26014	16.97	0.3368146854038564	0.02019	0.02506	0.06996	N	AEFBI	.	.	.	.	.	.	.	.	.	3.35830703131488E-4	0.06583	0.074898	0.01738	0	0.063388	0.01293	0	0.063197	0.01477	0	0.088406	0.02457	0	0.0489367	0.08445	0.882	0.882	0.18306	1.688000	0.37308	-0.373000	0.09593	0.564000	0.28548	0.772000	0.29380	0.000000	0.08366	0.010000	0.09038	0.0:1.0:0.0:0.0	5.059	0.13883	334	0.86273	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009259	0.013889	0.004983	0.000000	0.000000	0.010638	0.033613	0.004348	0.1176	156.02	33	chr2	97545720	.	C	T	156.02	.	AC=4;AF=0.118;AN=34;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=0.9334;MLEAC=3;MLEAF=0.088;MQ=29.46;QD=26;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,3:3:9:101,9,0	15	2	0	2
chr2	97560855	97560855	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon7:c.C769T:p.P257S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.004e-05	0.0003	0.0001	0	0	0	0	0	8.41e-05	13	154602	rs780443525	8.291e-05	0.0001	9.643e-05	6.924e-05	0.0026	7.054e-05	6.594e-05	0.0021	0.0020	0.0026	0.0002	0	0	0	0	9.118e-06	0.0002	1.176e-05	0.0010	0.0012	0.0011	0.0009	0.0034	0.0009	0.0008	0.0029	0.0027	0.0034	0	0.0005	0	0	0	0	0	0.0005	0.0002	.	.	.	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	.	.	.	-0.975	0.01213	N	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	0.035990536	0.01875	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.16001757514502346	0.15922	.	.	0.693395614624	0.66194	T	0.005734	0.05178	T	-0.185808	0.22875	T	-0.504677	0.21864	T	.	.	.	0.549445	0.18903	T	0.040250804	0.05709	0.111498825	0.26896	0.040250804	0.05709	0.111498825	0.26895	-1.682	0.02182	T	.	.	0.085	0.10159	B	.;.	.;.	-1.143853	0.00590	0.015	0.47617598895545221	0.03907	0.00164	0.00976	N	AEFBI	.	.	.	.	.	.	.	.	.	8.6213073504853E-5	0.04703	0.24053	0.04163	0	0.097471	0.02872	0	0.083675	0.02720	0	0.276818	0.05458	0	0.0868661	0.19730	0.379	-0.758	0.10492	-0.094000	0.11060	0.023000	0.13619	-1.058000	0.01623	0.181000	0.24076	0.000000	0.08366	0.000000	0.00833	.	.	.	362	0.84826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	42	chr2	97560855	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.526;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.71;MQRankSum=0.972;QD=18.35;ReadPosRankSum=2.08;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr2	97738070	97738070	G	A	exonic	ZAP70	.	nonsynonymous SNV	ZAP70:NM_207519:exon5:c.G778A:p.E260K,ZAP70:NM_001378594:exon12:c.G1699A:p.E567K,ZAP70:NM_001079:exon13:c.G1699A:p.E567K	Autoimmune disease, multisystem, infantile-onset, 2, Autosomal recessive;Immunodeficiency 48, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2134890	ZAP70-Related_Severe_Combined_Immunodeficiency	MedGen:C2931299	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.042303701033	.	.	8.36e-05	0	0	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs757015607	2.264e-05	2.258e-05	1.91e-05	2.621e-05	0.0002	1.615e-05	1.42e-05	0.0001	9.516e-05	0	2.272e-05	0.0002	5.055e-05	0	0	8.108e-06	1.66e-05	0.0002	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.103	0.30097	T	0.263	0.22828	T	0.073	0.24078	B	0.007	0.12992	B	0.012936	0.29007	N	0.155218	0.999999	0.08975	N	0.975	0.24501	L	-1.76	0.83578	D	-1.71	0.46503	N	0.369	0.42050	-0.7928	0.55566	T	0.331	0.69902	T	10	0.24116066	0.41289	T	0.042304	0.60393	D	0.307	0.62838	0.559	0.67821	0.653256221078	0.65036	0.740404198590105	0.73985	0.81174973913	0.66768	0.581207633018	0.50256	T	0.656452	0.89637	D	-0.0104436	0.50204	T	-0.252778	0.49543	T	0.0686326615713895	0.08458	T	0.939306	0.77145	D	0.3714077	0.58688	0.2198691	0.46741	0.3714077	0.58689	0.2198691	0.46740	-7.993	0.61023	D	0.2192220691689077	0.29535	0.156	0.49567	B	.;.	.;.	3.797039	0.54692	23.5	0.98357199970033138	0.40608	0.79241	0.39229	D	AEFDGBCI	0.313597	0.41871	N	-0.486963256884697	0.22508	1.202291	-0.41694380296152	0.24500	1.34193	0.998951277176034	0.38059	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	3.289000	0.51454	5.775000	0.49767	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.060000	0.15972	0.0:0.0:1.0:0.0	14.315	0.65999	456	0.79013	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	801.33	34	chr2	97738070	.	G	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=739;ExcessHet=0;FS=8.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.706;SOR=1.728	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr2	97814299	97814299	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon14:c.C1382T:p.T461I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00915928553797	8.3e-05	0.000399361	0.0002	0.0001	8.67e-05	0	0.0005	0.0002	0	0.0008	0.0002458	38	154602	rs201622776	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	5.975e-05	8.946e-05	0	0	0.0005	0	0.0004	0.0002	0.0006	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0.0003	0	0.0004	0	0.0003	0.0009	0.0010	0.06	0.37326	T	0.002	0.79402	D	0.997	0.70673	D	0.879	0.62418	P	0.000000	0.84330	D	0.053824	0.999999	0.58761	D	2.125	0.59049	M	1.38	0.34050	T	-3.34	0.66325	D	0.442	0.48042	-0.9607	0.39050	T	0.138	0.45526	T	10	0.1337358	0.25453	T	0.009159	0.24083	T	0.267	0.58126	.	.	0.043077524339	0.03247	0.43165223521929397	0.43082	0.726433526448	0.62512	0.765551447868	0.76757	T	0.227265	0.59251	T	-0.201594	0.20575	T	-0.166558	0.57757	T	0.30878472328186	0.25364	T	0.877512	0.59164	D	0.35875362	0.57740	0.2988008	0.55914	0.35875362	0.57741	0.2988008	0.55913	-9.421	0.70367	D	.	.	0.559	0.67174	A	.	.	4.832832	0.78829	27.0	0.99916711405858605	0.98449	0.98773	0.86667	D	AEFBI	0.826671	0.74611	D	0.631896357196981	0.75203	6.264467	0.674111826890011	0.80418	7.294351	0.999999999994946	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.334000	0.78476	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.341	0.94330	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1352.33	33	chr2	97814299	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.122;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1318	18	0	1	0
chr2	98093216	98093216	C	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_144992:exon2:c.C124A:p.L42M	.	.	.	.	.	.	.	.	.	.	.	3202222	VWA3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00530277103546	0.0011	0.000399361	0.0012	0.0002	0.0002	0	0.0018	0.0016	0.0044	0.0012	0.001119	173	154602	rs200359284	0.0011	0.0011	0.0011	0.0011	0.0015	0.0011	0.0011	0.0013	0.0012	0.0002	0.0003	7.652e-05	0	0.0024	0.0007	0.0011	0.0011	0.0015	0.0009	0.0009	0.0009	0.0008	0.0017	0.0008	0.0007	0.0012	0.0011	0.0002	0	0.0003	0	0	0.0016	0	0.0014	0.0005	0.0017	0.109	0.29288	T	0.019	0.59159	D	0.82	0.45712	P	0.278	0.40236	B	0.014478	0.28523	N	0.246804	0.999998	0.29201	N	1.28	0.32218	L	7.36	0.00416	T	-0.76	0.21215	N	0.202	0.22357	-0.8606	0.51220	T	0.001	0.00318	T	10	0.007692039	0.00175	T	0.005303	0.13556	T	0.081	0.23632	.	.	0.0806252709748	0.07271	0.19066139056105205	0.18984	0.127796915303	0.14414	0.309877634048	0.11889	T	8.96E-4	0.00456	T	-0.512332	0.00487	T	-0.533334	0.18955	T	0.0100202060311041	0.00134	T	0.776522	0.40874	T	0.07417105	0.16626	0.075564034	0.16649	0.07403451	0.16585	0.0918049	0.21603	-4.146	0.25966	T	.	.	0.104	0.18991	B	.	.	2.056307	0.26141	17.01	0.98225266975148628	0.39343	0.05796	0.11732	N	AEFDGBI	0.105601	0.21095	N	-0.227322540434671	0.32016	1.801179	-0.235760094234398	0.30265	1.702574	0.0317367774950671	0.14018	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	2.41	0.28644	0.024000	0.13447	0.354000	0.17507	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2903:0.6286:0.0:0.081	8.043	0.29692	460	0.78750	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1594.33	34	chr2	98093216	.	C	A	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.361;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr2	98121411	98121411	G	T	exonic	VWA3B	.	stopgain	VWA3B:NM_144992:exon5:c.G655T:p.E219X	.	429	1089	4	0	0	4	0.00183318	.	.	.	763484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0006	0	0	0.0082	0	4.496e-05	0	0.0002	0.0005692	88	154602	rs139296152	0.0004	0.0004	0.0004	0.0004	0.0133	0.0004	0.0004	0.0123	0.0120	0	4.472e-05	0	0.0133	0	0	3.957e-05	0.0004	0.0004	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0052	0	0	0	0	0.0077	0	0	1.47e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.057916	0.02103	N	1.902860	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.235631	0.15911	T	-0.107797	0.62787	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.270653	0.64981	24.8	0.96784735760620999	0.31087	0.03301	0.08357	N	AEFDBI	0.038761	0.05532	N	-0.358336674656555	0.26967	1.475902	-0.725411345802071	0.16329	0.8632943	0.00550120761415263	0.10959	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.33	-2.37	0.06262	0.103000	0.15128	0.656000	0.20461	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2707:0.2458:0.3065:0.1769	0.997	0.01376	457	0.78953	von Willebrand factor, type A	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1590.33	34	chr2	98121411	.	G	T	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.255;DP=734;ExcessHet=0;FS=7.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0;SOR=0.282	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr2	98162934	98162934	G	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon2:c.G43A:p.V15M,VWA3B:NM_144992:exon8:c.G1072A:p.V358M	.	427	1089	6	0	0	6	0.00274725	.	.	.	763485	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	.	0.00259585	0.0010	0	0	0.0125	0	4.509e-05	0	0.0003	0.0008732	135	154602	rs149236888	0.0006	0.0006	0.0006	0.0006	0.0179	0.0005	0.0005	0.0168	0.0164	0	4.472e-05	0	0.0179	0	0	3.237e-05	0.0005	0.0005	0.0004	0.0004	0.0004	0.0005	0.0114	0.0003	0.0003	0.0091	0.0082	0	0	6.532e-05	0	0.0114	0	0	1.47e-05	0.0005	0.0004	0.023	0.48186	D	0.03	0.54159	D	0.779	0.44223	P	0.317	0.41633	B	0.629265	0.10703	N	0.778444	0.999786	0.20372	N	2.14	0.59869	M	3.28	0.06523	T	-1.16	0.29727	N	0.302	0.34120	-1.0604	0.11656	T	0.024	0.10194	T	10	0.0046381354	0.00097	T	.	.	.	0.053	0.14996	.	.	0.29132392195	0.28731	0.07559982563667005	0.07495	0.103489838642	0.11711	0.305013388395	0.11153	T	0.002483	0.01875	T	-0.554963	0.00272	T	-0.561981	0.16191	T	0.0351484858846393	0.02834	T	0.705929	0.31637	T	0.05294634	0.09949	0.0728986	0.15780	0.05294634	0.09949	0.0728986	0.15780	-4.475	0.30560	T	.	.	0.131	0.28086	B	.	.	2.398439	0.30807	18.55	0.98333253237070639	0.40358	0.27565	0.23313	N	AEFDGBCIJ	0.278830	0.39302	N	-0.241030644301582	0.31463	1.764456	-0.262439575800613	0.29346	1.643385	0.999998115636786	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.68	-0.563	0.11188	0.256000	0.18120	1.367000	0.25926	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.908000	0.44358	0.1742:0.4327:0.3931:0.0	6.457	0.21139	453	0.79178	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	520.33	34	chr2	98162934	.	G	A	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=658;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.373;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	18	0	1	0
chr2	98312294	98312294	C	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon22:c.C2801T:p.T934I,VWA3B:NM_144992:exon28:c.C3830T:p.T1277I	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.0129792	0.0115	0.0006	0.0036	0.0503	0.0153	0.0094	0.0078	0.0106	0.0111836	1729	154602	rs2271038	0.0098	0.0098	0.0096	0.0100	0.0573	0.0097	0.0096	0.0554	0.0546	0.0008	0.0048	0.0036	0.0573	0.0130	0.0121	0.0084	0.0087	0.0125	0.0075	0.0075	0.0067	0.0083	0.0493	0.0071	0.0070	0.0444	0.0424	0.0010	0	0.0057	0.0049	0.0493	0.0118	0.0034	0.0080	0.0066	0.0112	0.072	0.34982	T	0.533	0.11371	T	0.261	0.31520	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.33	0.06138	T	-0.53	0.16393	N	0.096	0.07673	-0.9435	0.42057	T	0.002	0.00556	T	9	0.0029001534	0.00046	T	.	.	.	0.067	0.19503	.	.	.	.	0.13017953049751194	0.12942	0.0882361222215	0.09970	0.298939734697	0.10243	T	0.001721	0.01148	T	-0.652809	0.00070	T	-0.667996	0.07738	T	0.0027483472469388	0.00029	T	0.49475	0.15329	T	0.028671041	0.02240	0.04810641	0.07073	0.034224115	0.03797	0.04810641	0.07073	-4.321	0.29435	T	.	.	0.101	0.23605	B	.;.	.;.	0.346239	0.07195	3.786	0.94490893941064569	0.24956	0.06785	0.12808	N	AEFDGBCI	0.045352	0.07407	N	-0.997441856833061	0.08659	0.4068055	-1.04821465623484	0.08744	0.4314253	0.013013184112008	0.12404	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.28	1.25	0.20475	0.293000	0.18785	-0.402000	0.09404	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5643:0.4357:0.0:0.0	9.877	0.40380	434	0.80536	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.008621	0.018293	0.000000	0.02632	1486.33	34	chr2	98312294	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=834;ExcessHet=0;FS=9.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.835;SOR=1.403	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr2	99065057	99065057	T	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349013:exon12:c.A959G:p.N320S,TSGA10:NM_001349014:exon12:c.A959G:p.N320S,TSGA10:NM_001349012:exon14:c.A1286G:p.N429S,TSGA10:NM_182911:exon15:c.A1286G:p.N429S,TSGA10:NM_025244:exon16:c.A1286G:p.N429S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0127537371483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12428	T	0.831	0.03706	T	0.001	0.07471	B	0.003	0.08700	B	0.021810	0.26758	N	0.349077	0.991168	0.24073	N	-0.145	0.04423	N	2.61	0.78427	T	0.37	0.04533	N	0.061	0.03613	-0.9959	0.31055	T	0.144	0.46696	T	10	0.046427935	0.03832	T	0.012754	0.31594	T	0.030	0.07022	.	.	0.117191471859	0.11215	0.04130864157475855	0.04075	0.0954305345072	0.10779	0.495855122805	0.38250	T	0.014869	0.12575	T	-0.218052	0.18260	T	-0.550993	0.17232	T	0.33415162563324	0.26391	T	0.786121	0.42437	T	0.02980488	0.02535	0.042699125	0.05145	0.02980488	0.02534	0.042699125	0.05144	-3.428	0.15436	T	.	.	0.076	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.605649	0.20521	14.79	0.4202721769900406	0.03070	0.62874	0.31915	D	AEBI	0.191776	0.31896	N	-0.732596989018564	0.15111	0.7586498	-0.48755340650557	0.22495	1.222124	0.0052865637085332	0.10888	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.3	2.9	0.32809	1.597000	0.36340	2.835000	0.35045	-0.904000	0.02305	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0865:0.1613:0.7523	6.850	0.23194	335	0.86220	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	33	chr2	99065057	.	T	C	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=745;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.475;SOR=0.496	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	18	0	1	0
chr2	99105434	99105434	A	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349012:exon7:c.T384G:p.I128M,TSGA10:NM_001349013:exon8:c.T384G:p.I128M,TSGA10:NM_001349014:exon8:c.T384G:p.I128M,TSGA10:NM_182911:exon8:c.T384G:p.I128M,TSGA10:NM_025244:exon9:c.T384G:p.I128M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0650983533095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17821	T	0.153	0.32144	T	0.999	0.77913	D	0.997	0.86255	D	0.000015	0.62929	D	0.000000	0.91559	0.36530	D	2.14	0.59869	M	0.76	0.78199	T	-1.12	0.30762	N	0.447	0.48689	-0.0607	0.80978	T	0.475	0.79872	T	10	0.25622073	0.43023	T	0.065098	0.69478	D	0.175	0.44197	0.119	0.02647	0.714430744804	0.71192	0.24371171187646787	0.24285	0.458275355136	0.45440	0.716483592987	0.69535	T	0.047323	0.27688	T	0.0810979	0.62169	D	-0.121285	0.61697	T	0.913748204708099	0.57013	D	0.870713	0.58680	D	0.15952277	0.35830	0.15141152	0.35667	0.15952277	0.35829	0.15141152	0.35667	-8.303	0.63115	D	.	.	0.283	0.55930	B	.;.;.;.;.	.;.;.;.;.	3.438295	0.47819	22.5	0.99241809446599394	0.56565	0.81692	0.41045	D	AEFI	0.464606	0.51303	N	0.465022713398048	0.65062	4.775233	0.462455115220923	0.65520	4.834263	0.0036828467864577	0.10235	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.98	4.98	0.65679	1.875000	0.39214	4.993000	0.46541	0.735000	0.85950	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8374:0.0:0.0:0.1626	9.150	0.36117	335	0.86220	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1378.33	35	chr2	99105434	.	A	C	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=843;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.303;SOR=0.585	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	323.58	38	chr2	99390613	.	G	A	323.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.215;DP=1448;ExcessHet=0.119;FS=184.646;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.083;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:91,0:91:69:.:.:0,69,2216:.	16	0	2	1
chr2	99405959	99405959	C	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon17:c.G2759T:p.S920I,REV1:NM_016316:exon17:c.G2762T:p.S921I,REV1:NM_001321454:exon18:c.G2870T:p.S957I,REV1:NM_001321455:exon18:c.G2549T:p.S850I,REV1:NM_001321458:exon18:c.G1292T:p.S431I,REV1:NM_001321459:exon18:c.G1193T:p.S398I,REV1:NM_001321460:exon18:c.G1193T:p.S398I	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0170279375559	0.0010	0.00119808	0.0015	0.0005	0.0037	0	0.0012	0.0013	0.0066	0.0018	0.0014553	225	154602	rs3087396	0.0011	0.0011	0.0011	0.0012	0.0035	0.0011	0.0011	0.0025	0.0023	0.0007	0.0029	0.0004	0	0.0012	0.0035	0.0010	0.0018	0.0021	0.0012	0.0012	0.0013	0.0010	0.0039	0.0010	0.0010	0.0026	0.0021	0.0005	0	0.0013	0.0006	0.0002	0.0016	0.0068	0.0014	0.0014	0.0039	0.066	0.36310	T	0.217	0.26145	T	0.492	0.37115	P	0.216	0.37572	B	0.001843	0.37840	N	0.346719	0.984838	0.24765	N	2.52	0.73523	M	1.6	0.28604	T	-1.75	0.42763	N	0.391	0.47857	-1.0321	0.19777	T	0.074	0.29992	T	10	0.0062645376	0.00141	T	0.017028	0.38558	T	0.089	0.25827	.	.	0.250512400709	0.24649	0.4659477433860269	0.46513	0.15301633933	0.17264	0.393102139235	0.24105	T	0.038092	0.24717	T	-0.501754	0.00559	T	-0.498438	0.22511	T	0.00930295737957474	0.00118	T	0.854015	0.53996	D	0.092062406	0.21589	0.091627955	0.21553	0.092062406	0.21589	0.091627955	0.21552	-4.932	0.36159	T	.	.	0.121	0.25133	B	.;.	.;.	1.843294	0.23417	16.01	0.97014184658083036	0.31997	0.95707	0.65813	D	AEFBHCI	0.169830	0.29670	N	-0.358791350501746	0.26951	1.474874	-0.346722897383323	0.26611	1.470982	0.874893757824793	0.25494	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.99	3.05	0.34272	1.113000	0.30798	0.292000	0.16883	-0.313000	0.06017	0.824000	0.30046	0.014000	0.20376	0.994000	0.71098	0.0:0.5264:0.2599:0.2137	5.820	0.17778	383	0.83590	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.020202	0.005435	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	1390.33	33	chr2	99405959	.	C	A	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=685;ExcessHet=0;FS=3.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.82;ReadPosRankSum=1.44;SOR=0.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1241	18	0	1	0
chr2	99439110	99439110	G	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon6:c.C704T:p.A235V,REV1:NM_001321454:exon6:c.C704T:p.A235V,REV1:NM_016316:exon6:c.C704T:p.A235V,REV1:NM_001321455:exon7:c.C494T:p.A165V	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0495309120588	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.079e-05	1.29e-05	2	154602	rs774470983	1.437e-05	1.436e-05	1.633e-05	1.238e-05	0.0003	9.23e-06	7.84e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	9.892e-06	3.311e-05	6.957e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.189	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.105651	1	0.81001	D	2.6	0.76081	M	0.97	0.42502	T	-1.57	0.37955	N	0.602	0.78072	-0.7410	0.58401	T	0.260	0.63033	T	10	0.56802154	0.65161	D	0.049531	0.63854	D	0.295	0.61502	0.364	0.37036	0.572958119198	0.56962	0.4858266309938118	0.48502	0.523815387963	0.50087	0.48337906599	0.36521	T	0.032179	0.22374	T	-0.0328595	0.47001	T	-0.081377	0.64803	T	0.766411662101746	0.44225	D	0.942106	0.78341	D	0.45902416	0.64610	0.43679282	0.67120	0.45902416	0.64610	0.43679282	0.67120	-3.031	0.10519	T	.	.	0.396	0.59341	A	.;.	.;.	4.777689	0.77400	26.7	0.99915819374672643	0.98379	0.99729	0.99021	D	AEFDBI	0.884618	0.81445	D	0.806102418196647	0.86486	8.901089	0.799295274465404	0.89745	10.10293	0.99999999985898	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.011000	0.88184	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.495	0.95059	384	0.83545	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1407.33	48	chr2	99439110	.	G	A	1407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.3;SOR=0.644	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	100298868	100298868	G	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon7:c.C1444A:p.H482N,LONRF2:NM_001371783:exon8:c.C715A:p.H239N	.	425	1092	5	0	0	5	0.00228415	.	.	.	2812172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	.	0.0074	0.00319489	0.0074	0.0024	0.0027	0	0.0219	0.0102	0.0033	0.0008	0.0074708	1155	154602	rs116702638	0.0094	0.0094	0.0097	0.0091	0.0107	0.0093	0.0092	0.0105	0.0105	0.0013	0.0038	0.0054	0	0.0193	0.0024	0.0107	0.0067	0.0010	0.0070	0.0070	0.0069	0.0072	0.0098	0.0067	0.0065	0.0091	0.0089	0.0019	0	0.0042	0.0049	0	0.0210	0	0.0098	0.0076	0.0010	0.166	0.23183	T	0.517	0.10572	T	0.003	0.11197	B	0.016	0.17743	B	0.002062	0.37317	N	0.258855	0.715228	0.34796	D	-0.425	0.02884	N	1.05	0.39990	T	-2.17	0.49018	N	0.211	0.23506	-1.0678	0.09903	T	0.019	0.08173	T	10	0.00684464	0.00156	T	.	.	.	0.049	0.13647	.	.	0.295226631146	0.29124	0.32937313727823714	0.32850	0.389715505407	0.40204	0.481564313173	0.36272	T	0.022653	0.17425	T	-0.636122	0.00088	T	-0.675491	0.07261	T	0.0163635422777987	0.00405	T	0.652235	0.26282	T	0.08047845	0.18442	0.09920867	0.23679	0.08047845	0.18442	0.09920867	0.23678	-8.521	0.64568	D	.	.	0.141	0.31023	B	.;.	.;.	0.916531	0.12909	9.421	0.75059455686708343	0.10929	0.57950	0.30511	D	AEFDGBI	0.096426	0.19465	N	-0.818687413691486	0.12834	0.6281359	-0.70805924372528	0.16760	0.8881217	0.999783068285757	0.43007	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.09	2.09	0.26154	1.117000	0.30848	1.121000	0.24244	-0.106000	0.15538	0.911000	0.31706	0.002000	0.18203	0.037000	0.13953	0.0:0.1467:0.5877:0.2655	8.965	0.35031	615	0.66512	Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1403.33	33	chr2	100298868	.	G	T	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.31;DP=748;ExcessHet=0;FS=5.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.88;SOR=0.372	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1426	18	0	1	0
chr2	100321585	100321585	C	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.G509A:p.G170E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.530536896482	.	.	1.723e-05	0	0	0	0	0	0	9.518e-05	6.5e-06	1	154602	rs757957788	3.631e-06	4.104e-06	1.443e-06	5.847e-06	3.815e-05	1.06e-06	7.7e-07	1.013e-05	4.81e-06	0	0	0	3.111e-05	0	0	0	1.757e-05	3.815e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	0.177	0.22224	T	0.28	0.21678	T	0.005	0.12996	B	0.004	0.10090	B	0.784917	0.06676	U	1.193380	0.999999	0.08975	N	0.655	0.16177	N	-1.74	0.83413	D	-1.55	0.37566	N	0.176	0.18920	-0.8716	0.50409	T	0.249	0.61797	T	10	0.13616371	0.25907	T	0.530537	0.95582	D	0.295	0.61502	0.376	0.38994	0.71789583753	0.71541	0.14799952451372206	0.14721	0.883092311226	0.69844	0.804783880711	0.82692	D	0.006236	0.05676	T	-0.026436	0.47933	T	-0.27575	0.47237	T	0.136002217831019	0.15926	T	0.518348	0.16810	T	0.0649074	0.13818	0.12238308	0.29522	0.0649074	0.13817	0.12238308	0.29521	-3.456	0.15821	T	.	.	0.145	0.31956	B	.	.	1.256644	0.16543	12.61	0.97259892396115544	0.33084	0.02486	0.06960	N	AEFDBHCIJ	0.038803	0.05544	N	-1.17206444035002	0.05426	0.2473485	-1.20756279682702	0.05787	0.2767478	0.999999999993141	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.7	-3.0	0.05148	0.080000	0.14657	-0.598000	0.08285	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1426:0.4081:0.2641:0.1852	1.988	0.03231	616	0.66398	Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	33	chr2	100321585	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=766;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.601;SOR=0.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1266	18	0	1	0
chr2	100571765	100571765	C	G	exonic	PDCL3	.	nonsynonymous SNV	PDCL3:NM_024065:exon5:c.C544G:p.L182V	.	435	1068	16	3	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0209902006365	0.0024	0.00179712	0.0025	0.0008	0.0029	0	0	0.0037	0.0022	0.0008	0.0023738	367	154602	rs143476375	0.0027	0.0027	0.0026	0.0027	0.0215	0.0026	0.0026	0.0184	0.0173	0.0010	0.0035	0.0025	0	0.0002	0.0215	0.0029	0.0036	0.0013	0.0024	0.0024	0.0026	0.0022	0.0036	0.0022	0.0021	0.0033	0.0031	0.0005	0.0340	0.0025	0.0023	0	9.42e-05	0.0204	0.0036	0.0052	0.0006	0.258	0.16683	T	0.462	0.12526	T	0.999	0.77913	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.085	0.57729	M	2.55	0.13795	T	-0.75	0.21003	N	0.751	0.75009	-1.1449	0.01185	T	0.046	0.19599	T	10	0.012798905	0.00274	T	0.02099	0.43686	T	0.169	0.43123	.	.	0.318252033908	0.31440	0.7155559781120975	0.71498	0.26085393997	0.28643	0.636228084564	0.58028	T	0.014871	0.12581	T	-0.310515	0.07703	T	-0.219966	0.52741	T	0.0257021485899063	0.01366	T	0.909409	0.67928	D	0.14566047	0.33380	0.13060042	0.31379	0.14566047	0.33379	0.13060042	0.31378	-9.838	0.72936	D	.	.	0.118	0.24088	B	.	.	2.586580	0.33543	19.37	0.98415843542061332	0.41234	0.88216	0.48045	D	AEFDBCI	0.627630	0.61001	D	0.338169545156009	0.58117	3.982291	0.289564544529349	0.54928	3.656646	0.999993620219114	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.89	3.08	0.34576	2.257000	0.42896	2.206000	0.31328	0.596000	0.33519	0.975000	0.34726	0.992000	0.31684	0.996000	0.76049	0.0:0.6802:0.0:0.3198	8.000	0.29449	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.045455	0.025815	0.023392	0.000000	0.017241	0.015244	0.000000	0.02632	2890.33	33	chr2	100571765	.	C	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.302;DP=849;ExcessHet=0;FS=1.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=-0.715;QD=13.08;ReadPosRankSum=-0.985;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	18	0	1	0
chr2	100990347	100990347	C	T	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon18:c.C1919T:p.A640V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00453436806559	.	.	3.298e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs772104477	1.505e-05	1.505e-05	5.445e-06	2.475e-05	0.0001	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	1.079e-05	1.656e-05	0.0001	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.385	0.15746	T	0.005	0.12996	B	0.0	0.01387	B	0.118661	0.02705	N	2.104730	1	0.08975	N	-0.755	0.01709	N	3.67	0.04188	T	0.6	0.02518	N	0.028	0.00618	-0.9559	0.39934	T	0.004	0.01226	T	10	0.020392358	0.00469	T	0.004534	0.11157	T	0.031	0.07369	.	.	0.322865848456	0.31899	0.18318000066817058	0.18236	0.281612833915	0.30635	0.309588015079	0.11845	T	0.038936	0.25016	T	-0.460885	0.00971	T	-0.697152	0.05983	T	0.0140284754281385	0.00271	T	0.290471	0.05292	T	0.012743599	0.00040	0.025755653	0.00632	0.012743599	0.00040	0.025755653	0.00632	-4.067	0.24802	T	0.04680527209110874	0.00656	0.053	0.00254	B	.	.	-0.220504	0.02987	0.448	0.74560062188575627	0.10741	0.00172	0.01016	N	AEFDBI	0.024767	0.01585	N	-1.69810909602811	0.00849	0.03670527	-1.61556794381814	0.01563	0.07086446	0.802884173400202	0.24217	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.68	-0.785	0.10397	-0.620000	0.05661	-2.037000	0.04308	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1206:0.3747:0.124:0.3807	2.904	0.05365	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2394.33	33	chr2	100990347	.	C	T	2394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.632;DP=791;ExcessHet=0;FS=0.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.02;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr2	102176724	102176724	A	-	exonic	IL1R1	.	frameshift deletion	IL1R1:NM_001320983:exon10:c.1243delA:p.K415Nfs*21,IL1R1:NM_001320984:exon10:c.1126delA:p.K376Nfs*21,IL1R1:NM_001320985:exon10:c.970delA:p.K324Nfs*21,IL1R1:NM_000877:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001288706:exon12:c.1582delA:p.K528Nfs*21,IL1R1:NM_001320978:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320980:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320981:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320982:exon12:c.1675delA:p.K559Nfs*21	.	420	1098	4	0	0	4	0.00181818	.	.	.	719167	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0033	0.0002	0.0002	0.0001	0	0	0.0033	0.0236	0.0001537	4	26028	rs376163784	0.0014	0.0014	0.0008	0.0019	0.0219	0.0013	0.0013	0.0210	0.0207	0	0.0002	0	2.519e-05	0	0.0007	5.396e-06	0.0015	0.0219	0.0009	0.0009	0.0004	0.0014	0.0251	0.0008	0.0007	0.0214	0.0201	9.625e-05	0	0.0007	0	0	0	0	2.94e-05	0	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	2224.79	33	chr2	102176723	.	GA	G	2224.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=794;ExcessHet=0.119;FS=1.934;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.238;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	17	0	2	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T,IL1RL2:NM_001351447:exon9:c.G1057A:p.A353T,IL1RL2:NM_001351449:exon10:c.G958A:p.A320T,IL1RL2:NM_001351450:exon10:c.G958A:p.A320T,IL1RL2:NM_001351446:exon11:c.G1411A:p.A471T,IL1RL2:NM_003854:exon11:c.G1411A:p.A471T	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.010101	0.021739	0.049708	0.000000	0.025862	0.012195	0.049242	0.05263	4105.83	39	chr2	102235010	.	G	A	4105.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.8;DP=937;ExcessHet=0.119;FS=0.905;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=2.23;SOR=0.617	GT:AD:DP:GQ:PL	0/1:94,77:171:99:1923,0,2328	17	0	2	0
chr2	102708361	102708361	G	A	exonic	SLC9A2	.	nonsynonymous SNV	SLC9A2:NM_003048:exon12:c.G2311A:p.D771N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0200662400056	0.0039	0.00159744	0.0043	0.0007	0.0054	0	0.0011	0.0063	0.0033	0.0012	0.0042561	658	154602	rs56156264	0.0049	0.0049	0.0050	0.0049	0.0057	0.0048	0.0048	0.0054	0.0053	0.0005	0.0057	0.0159	2.519e-05	0.0011	0.0024	0.0055	0.0039	0.0013	0.0041	0.0041	0.0043	0.0039	0.0074	0.0038	0.0037	0.0063	0.0059	0.0009	0.0022	0.0074	0.0144	0.0002	0.0005	0	0.0058	0.0052	0.0017	0.1	0.30515	T	0.536	0.09897	T	0.003	0.11197	B	0.004	0.10090	B	0.509189	0.05137	N	1.288820	0.993338	0.23730	N	0.345	0.11182	N	0.42	0.56937	T	-0.75	0.21003	N	0.024	0.00445	-1.0303	0.20357	T	0.067	0.27468	T	10	0.0032167137	0.00055	T	0.020066	0.42586	T	0.111	0.31313	.	.	0.477762074677	0.47404	0.1536255016202586	0.15284	0.440040231654	0.44017	0.316749334335	0.12928	T	0.119256	0.44065	T	-0.606407	0.00133	T	-0.641503	0.09559	T	0.00544505847270863	0.00059	T	0.754824	0.37774	T	0.044928093	0.07265	0.04185151	0.04850	0.044928093	0.07265	0.04185151	0.04849	-4.474	0.30547	T	.	.	0.070	0.03407	B	.	.	3.017558	0.40373	21.2	0.97363986279610959	0.33588	0.76087	0.37291	D	AEFDBI	0.128573	0.24640	N	-0.57390251186758	0.19740	1.035514	-0.400864552989621	0.24971	1.370561	0.999840763089124	0.43971	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	3.97	0.45241	2.937000	0.48672	5.178000	0.47853	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.1702:0.1742:0.6556:0.0	5.752	0.17422	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2507.33	43	chr2	102708361	.	G	A	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=866;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.04;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr2	102726966	102726966	C	T	exonic	MFSD9	.	stopgain	MFSD9:NM_001322080:exon4:c.G123A:p.W41X,MFSD9:NM_001322081:exon4:c.G123A:p.W41X,MFSD9:NM_032718:exon4:c.G306A:p.W102X	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.00139776	0.0015	0.0004	0.0002	0.0001	0.0002	0.0011	0.0077	0.0059	0.0013648	211	154602	rs34960597	0.0018	0.0018	0.0016	0.0019	0.0066	0.0017	0.0017	0.0061	0.0060	0.0002	0.0002	0	0	0.0001	0.0028	0.0017	0.0015	0.0066	0.0010	0.0010	0.0011	0.0009	0.0064	0.0009	0.0008	0.0047	0.0041	0.0004	0	0.0003	0	0.0002	9.439e-05	0	0.0015	0.0009	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296788	0.82709	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.174930	0.98570	40	0.99564999475522387	0.72014	0.99462	0.96329	D	AEFDGBI	0.243780	0.36500	N	1.10430208720808	0.98212	17.69392	0.97468520419877	0.98075	17.37009	0.99999999999996	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	7.425000	0.79444	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	19.692	0.96001	797	0.45241	Sugar transporter, conserved site|Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004663	0.000000	0.002717	0.002941	0.000000	0.000000	0.003268	0.019231	0.02632	467.33	75	chr2	102726966	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=0.236;SOR=0.69	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr2	102736694	102736694	G	-	exonic	MFSD9	.	frameshift deletion	MFSD9:NM_032718:exon1:c.117delC:p.V40Sfs*28	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0009	0	0.0008	0	0	0.0003	0.0023	0.0044	0.0006792	105	154602	rs759295165	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0036	0.0035	0	0.0004	0	5.042e-05	0	0.0042	0.0002	0.0005	0.0040	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.000000	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1349.29	39	chr2	102736693	.	CG	C	1349.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=748;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.218;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr2	105080006	105080006	C	T	exonic	MRPS9	.	nonsynonymous SNV	MRPS9:NM_182640:exon5:c.C433T:p.R145C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.244674202022	.	0.000199681	9.065e-05	0	0	0	0	2.999e-05	0	0.0005	8.41e-05	13	154602	rs570793446	4.456e-05	4.583e-05	3.274e-05	5.649e-05	0.0007	3.582e-05	3.264e-05	0.0005	0.0005	0	0	0	0	0	0	5.403e-06	1.66e-05	0.0007	4.603e-05	4.596e-05	1.286e-05	8.072e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.39	0.91563	M	-3.01	0.92208	D	-7.31	0.94511	D	0.883	0.88137	0.965	0.96626	D	0.880	0.96025	D	10	0.63072014	0.68500	D	0.244674	0.88854	D	0.769	0.92212	0.446	0.50466	0.978759306225	0.97853	0.8848027628440854	0.88448	0.788677996729	0.65652	0.655198454857	0.60723	T	0.312685	0.68449	T	0.0278685	0.55439	T	0.174519	0.81677	D	0.988415241241455	0.78748	D	0.912409	0.68863	D	0.8117134	0.84666	0.6506744	0.79562	0.8117134	0.84668	0.6506744	0.79563	-10.166	0.74899	D	.	.	0.393	0.59182	A	.	.	5.429861	0.90806	31	0.9990461408491117	0.97576	0.96934	0.71741	D	AEFBI	0.887766	0.82029	D	0.80521915493146	0.86431	8.883569	0.745428583578531	0.85817	8.694635	0.999994159055777	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	4.83	0.61880	6.946000	0.75758	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9298:0.0:0.0702	14.570	0.67798	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	846.33	33	chr2	105080006	.	C	T	846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=698;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.246;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr2	105097231	105097231	G	A	exonic	MRPS9	.	nonsynonymous SNV	MRPS9:NM_182640:exon10:c.G1006A:p.G336R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.33039705811	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0024	0	0	0.0014748	228	154602	rs145751106	0.0017	0.0017	0.0016	0.0017	0.0020	0.0016	0.0016	0.0020	0.0019	0.0003	0.0005	3.831e-05	0	0.0003	0.0003	0.0020	0.0013	0.0003	0.0010	0.0010	0.0011	0.0008	0.0019	0.0009	0.0008	0.0017	0.0016	0.0003	0	0.0003	0	0	0.0003	0	0.0019	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.515	0.99023	H	-2.44	0.88767	D	-7.11	0.93999	D	0.846	0.84194	1.067	0.98512	D	0.906	0.96885	D	10	0.30035305	0.47582	T	0.330397	0.91734	D	0.889	0.96799	0.882	0.96934	0.968432832994	0.96809	0.9183686540628835	0.91812	0.737164365154	0.63037	0.654929459095	0.60686	T	0.475195	0.80634	T	0.165622	0.70720	D	0.46145	0.93839	D	0.461686551570892	0.31227	T	0.967103	0.88031	D	0.8911107	0.90603	0.84781885	0.91358	0.8911107	0.90604	0.84781885	0.91358	-10.194	0.75064	D	.	.	0.744	0.74782	P	.	.	5.375302	0.90099	31	0.99919861857242886	0.98654	0.99022	0.90087	D	AEFGBI	0.917843	0.88604	D	1.0670190272009	0.97473	16.18936	0.949689325897937	0.97394	16.05641	0.999981807426184	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.04	0.67293	9.356000	0.96506	11.858000	0.98250	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0683:0.0:0.9317:0.0	14.971	0.70887	912	0.21483	Ribosomal protein S9, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2071.33	33	chr2	105097231	.	G	A	2071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=726;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.11;ReadPosRankSum=0.04;SOR=0.86	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1320:.	18	0	1	0
chr2	105280415	105280415	G	A	exonic	TGFBRAP1	.	nonsynonymous SNV	TGFBRAP1:NM_001142621:exon6:c.C1430T:p.T477M,TGFBRAP1:NM_001328646:exon6:c.C1430T:p.T477M,TGFBRAP1:NM_004257:exon6:c.C1430T:p.T477M	.	415	1104	3	0	0	3	0.00135685	.	.	.	2237710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0231548525166	.	0.000199681	8.273e-06	0	0	0	0	0	0	6.099e-05	1.94e-05	3	154602	rs369902946	3.763e-05	3.762e-05	4.084e-05	3.438e-05	0.0002	2.96e-05	2.656e-05	2.995e-05	2.589e-05	0	2.236e-05	0	0	0	0.0002	3.867e-05	6.624e-05	6.957e-05	4.596e-05	5.249e-05	7.71e-05	1.342e-05	0.0002	2.108e-05	1.526e-05	1.972e-05	1.124e-05	2.405e-05	0	6.537e-05	0	0	0	0	5.88e-05	0	0.0002	0.037	0.43085	D	0.033	0.53072	D	0.114	0.26387	B	0.095	0.30245	B	0.000746	0.42006	D	0.273789	0.999991	0.08975	N	1.61	0.41143	L	0.94	0.43672	T	-1.18	0.30140	N	0.176	0.19190	-0.9773	0.35616	T	0.106	0.38636	T	10	0.16033137	0.30101	T	0.023155	0.46105	T	0.048	0.13305	0.489	0.57415	0.444404870569	0.44059	0.17543141139359755	0.17462	0.60250010159	0.55259	0.386988162994	0.23245	T	0.219252	0.58220	T	-0.260834	0.12804	T	-0.515593	0.20741	T	0.424055874347687	0.29840	T	0.882412	0.60266	D	0.04832573	0.08403	0.0864096	0.20019	0.04832573	0.08403	0.0864096	0.20018	-6.06	0.46778	T	.	.	0.078	0.07365	B	.;.;.	.;.;.	3.429755	0.47660	22.5	0.99599244481225657	0.74101	0.84429	0.43511	D	AEFBI	0.244449	0.36556	N	-0.33161347602214	0.27953	1.537865	-0.299118183042598	0.28128	1.565865	0.998548831382073	0.37167	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.53	0.55009	4.027000	0.56949	8.517000	0.77410	0.676000	0.76740	0.918000	0.31901	1.000000	0.68203	0.683000	0.33629	0.072:0.0:0.928:0.0	14.220	0.65362	926	0.17793	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1;Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1;Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1174.33	33	chr2	105280415	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=724;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.032;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1311	18	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	144.83	36	chr2	106413119	.	A	G	144.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=682;ExcessHet=0.119;FS=27.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.82;MQRankSum=-3.338;QD=1.77;ReadPosRankSum=-0.833;SOR=4.777	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1217	17	0	2	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.57	33	chr2	106423468	.	G	A	31.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.13;DP=1127;ExcessHet=0.119;FS=14.106;InbreedingCoeff=-0.0701;MLEAC=2;MLEAF=0.056;MQ=29.14;MQRankSum=0.954;QD=0.28;ReadPosRankSum=-2.58;SOR=3.208	GT:AD:DP:GQ:PL	0/1:51,7:58:20:20,0,1469	16	0	2	1
chr2	106424689	106424689	T	C	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A3278G:p.N1093S	.	124	1378	20	0	0	20	0.00720461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0109900991948	0.0002	.	0.0006	0	0	0	0	0.0004	0.0022	0.0028	0.0005175	80	154602	rs372584133	0.0003	0.0004	0.0002	0.0005	0.0053	0.0003	0.0003	0.0036	0.0030	2.993e-05	0.0002	0.0028	0	0	0.0053	0.0001	0.0005	0.0026	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	0	0	6.539e-05	0.0035	0	0	0.0068	0.0002	0.0009	0.0025	0.209	0.19710	T	0.378	0.24840	T	0.989	0.62824	D	0.968	0.71741	D	.	.	.	.	0.984889	0.24761	N	1.15	0.29295	L	1.03	0.40469	T	-2.78	0.58896	D	0.541	0.58202	-1.0181	0.24334	T	0.131	0.44268	T	9	0.021067947	0.00497	T	0.01099	0.28145	T	0.159	0.41286	.	.	0.0716867268079	0.06686	0.008667860909136705	0.00830	.	.	0.894022285938	0.95751	D	0.00916	0.08356	T	-0.541865	0.00327	T	-0.556055	0.16749	T	0.129021382654079	0.15291	T	0.966503	0.88196	D	0.09697732	0.22853	0.14644057	0.34693	0.09697732	0.22852	0.14644057	0.34692	-4.889	0.35611	T	.	.	0.106	0.28807	B	.;.	.;.	3.061679	0.41119	21.3	0.98910031628870443	0.48345	0.89153	0.49448	D	AEFI	0.455462	0.50774	N	0.0764076757856445	0.45364	2.794156	-0.0167841595398945	0.38956	2.302677	0.369369619047931	0.19854	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	2.35	0.28166	6.001000	0.70352	7.931000	0.75020	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:0.0:1.0	8.255	0.30912	911	0.21964	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003645	0.000000	0.006849	0.000000	0.000000	0.017857	0.000000	0.000000	0.05263	13735.8	45	chr2	106424689	.	T	C	13735.8	.	AC=2;AF=0.053;AN=38;DP=1462;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.96;QD=32.17;SOR=0.717	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	1	0	0
chr2	106425126	106425126	T	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A2841C:p.L947F	.	113	1395	14	0	0	14	0.00499287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0020587420718	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1476016006	0.0005	0.0005	0.0005	0.0006	0.0046	0.0005	0.0005	0.0030	0.0025	0.0020	0.0011	0.0091	0.0005	9.36e-05	0.0046	0.0002	0.0014	0.0005	0.0019	0.0024	0.0019	0.0020	0.0025	0.0018	0.0017	0.0021	0.0020	0.0025	0.0066	0.0022	0.0203	0.0004	0	0.0308	0.0009	0.0033	0.0010	0.574	0.06106	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.01	0.01154	N	0.99	0.41750	T	-0.98	0.25986	N	0.03	0.00942	-1.0068	0.27912	T	0.031	0.13330	T	9	0.005949378	0.00133	T	0.002059	0.03775	T	0.030	0.07022	0.216	0.13643	0.0138822411134	0.00435	0.018732201110094104	0.01827	.	.	0.342962920666	0.16881	T	0.001418	0.00874	T	-0.354284	0.04464	T	-0.746681	0.03617	T	0.0213250157278407	0.00834	T	0.0176316	0.00098	T	0.034799747	0.03973	0.05283961	0.08786	0.034799747	0.03973	0.05283961	0.08785	-4.196	0.26694	T	.	.	0.050	0.00681	B	.;.	.;.	-0.178293	0.03203	0.531	0.095329349896583163	0.00099	0.01478	0.04921	N	AEFI	0.048129	0.08182	N	-1.51119489834506	0.01775	0.07778743	-1.43651834146274	0.02894	0.1340043	6.37762098460014E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	1.35	0.21078	0.207000	0.17194	0.674000	0.20619	-0.675000	0.04277	0.001000	0.13787	0.023000	0.20922	0.056000	0.15673	0.3626:0.0:0.3923:0.2451	2.125	0.03510	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	182.33	45	chr2	106425126	.	T	G	182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.91;DP=902;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.17;MQRankSum=-6.895;QD=1.28;ReadPosRankSum=3.52;SOR=0.812	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr2	106436830	106436830	C	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon10:c.G1301T:p.S434I	.	215	1306	1	0	0	1	0.000382702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0544868067156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226222375	0.0001	0.0001	6.96e-05	0.0002	0.0018	9.632e-05	9.054e-05	0.0016	0.0015	0	0	0	0	0	0	0	0.0002	0.0018	4.819e-05	9.427e-05	1.775e-05	8.437e-05	0.0013	1.809e-05	1.223e-05	0.0003	0.0002	7.128e-05	0	0	0	0	0	0	0	0	0.0013	0.002	0.72154	D	0.001	0.83351	D	0.61	0.39628	P	0.094	0.30180	B	.	.	.	.	0.982832	0.24933	N	2.36	0.67893	M	-1.82	0.84047	D	-3.61	0.69477	D	0.475	0.58543	-0.5715	0.65955	T	0.386	0.74143	T	9	0.06451008	0.08565	T	0.054487	0.65874	D	0.360	0.68052	0.411	0.44723	0.427829143865	0.42401	0.17500017144937907	0.17419	.	.	0.819028973579	0.84880	D	0.159339	0.50274	T	-0.248893	0.14234	T	-0.134597	0.60582	T	0.252673136639034	0.22992	T	0.940106	0.77361	D	0.23578289	0.46419	0.24945699	0.50517	0.23578289	0.46419	0.24945699	0.50516	-4.527	0.31240	T	.	.	0.255	0.48938	B	.;.	.;.	3.426603	0.47601	22.5	0.97550424860676987	0.34566	0.86365	0.45631	D	AEFI	0.397104	0.47331	N	-0.196003461962889	0.33300	1.887686	-0.217123143235881	0.30922	1.745283	2.34418188109914E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.52	1.62	0.22817	4.070000	0.57267	2.778000	0.34716	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.681:0.0:0.319	4.723	0.12305	904	0.23766	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	114.39	7	chr2	106436830	.	C	A	114.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.652;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0309;MLEAC=1;MLEAF=0.026;MQ=25.65;MQRankSum=-0.494;QD=7.63;ReadPosRankSum=0.573;SOR=0.399	GT:AD:DP:GQ:PL	0/0:9,0:9:21:0,21,315	18	0	1	0
chr2	106457568	106457568	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon3:c.G251C:p.R84T	.	.	.	.	.	.	.	.	0.0001	0	.	2199101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0267196708753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369411358	3.256e-05	1.968e-05	1.463e-05	4.837e-05	0.0004	2.082e-05	1.677e-05	7.096e-05	5.171e-05	0	0	0	0	0	0.0004	1.11e-05	0.0002	0.0001	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.059	0.23051	B	0.086	0.29521	B	.	.	.	.	0.993833	0.23639	N	0	0.06538	N	-0.07	0.63738	T	-2.3	0.51157	N	0.31	0.37301	-0.9761	0.35882	T	0.107	0.39051	T	9	0.2208744	0.38797	T	0.02672	0.49603	D	0.148	0.39182	0.574	0.69826	0.101711395817	0.09552	0.0652353595106193	0.06462	.	.	0.791073262691	0.80606	T	0.015987	0.13301	T	-0.0719523	0.41013	T	-0.341131	0.40215	T	0.29386064548116	0.24750	T	0.955304	0.82980	D	0.11493519	0.27128	0.19044435	0.42448	0.11493519	0.27128	0.19044435	0.42447	-6.423	0.49688	T	.	.	0.244	0.52426	B	.;.	.;.	3.197952	0.43478	21.7	0.911450287257069	0.20398	0.74841	0.36622	D	AEFI	0.528763	0.55015	D	-0.62087764688303	0.18317	0.950055	-0.557507303076289	0.20607	1.111003	1.56512949094587E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.36	1.16	0.19936	3.609000	0.53867	6.122000	0.53799	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.3536:0.0:0.6464	4.333	0.10514	882	0.29131	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	105.33	17	chr2	106457568	.	C	G	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.94;MQRankSum=-1.847;QD=4.05;ReadPosRankSum=0.463;SOR=0.787	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	18	0	1	0
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007634	0.000000	0.000000	0.008333	0.000000	0.000000	0.000000	0.046512	0.02632	1053.33	37	chr2	106468221	.	C	G	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=803;ExcessHet=0;FS=7.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0.756;QD=8.1;ReadPosRankSum=0.051;SOR=1.325	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1277	18	0	1	0
chr2	106813156	106813156	A	G	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142352:exon6:c.T1387C:p.W463R	.	477	1038	7	0	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0044	0.000798722	0.0067	0.0008	0	0	0.0010	0.0081	0	0.0151	0.0009444	146	154602	rs200605446	0.0059	0.0051	0.0061	0.0058	0.0068	0.0058	0.0058	0.0067	0.0066	0.0008	0.0009	0	0	0.0004	0.0017	0.0068	0.0039	0.0022	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0011	0.0122	0.0033	0	0	0.0001	0.0035	0.0056	0.0034	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	5.5	0.00015	N	0.303	0.34228	-1.0067	0.27943	T	0.055	0.23148	T	4	0.005378127	0.00118	T	.	.	.	0.042	0.11227	0.414	0.45216	0.183819452728	0.17975	.	.	.	.	.	.	.	.	.	.	-0.629577	0.00096	T	-0.669159	0.07662	T	0.0427707527022904	0.04196	T	0.152985	0.01314	T	.	.	.	.	.	.	.	.	-2.445	0.05416	T	.	.	0.189	0.40683	B	.	.	0.298370	0.06740	3.255	0.38758578689221168	0.02633	0.05170	0.10987	N	AEFI	0.026739	0.02061	N	-0.671035362527751	0.16851	0.8621118	-0.907709831414495	0.11912	0.6097471	0.00438912569728279	0.10527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.820000	0.26979	.	.	0.187000	0.17834	0.327000	0.25564	.	.	0.049000	0.15107	.	.	.	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001420	0.000000	0.000000	0.000000	0.000000	0.000000	0.006757	0.000000	0.02632	1323.33	60	chr2	106813156	.	A	G	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.131;DP=1300;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.967;QD=10.85;ReadPosRankSum=-0.809;SOR=0.905	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,119,1800	18	0	1	0
chr2	106843388	106843388	G	A	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142351:exon2:c.C590T:p.S197F,ST6GAL2:NM_001142352:exon2:c.C590T:p.S197F,ST6GAL2:NM_001322362:exon2:c.C590T:p.S197F,ST6GAL2:NM_032528:exon2:c.C590T:p.S197F	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0146773956813	.	0.000199681	0.0003	0	0	0	0	0.0001	0.0011	0.0021	0.0002975	46	154602	rs528424981	0.0002	0.0002	9.121e-05	0.0002	0.0024	0.0001	0.0001	0.0016	0.0015	0	4.472e-05	7.655e-05	0	0	0.0024	4.496e-05	0.0003	0.0018	0.0001	0.0001	8.993e-05	0.0001	0.0019	7.572e-05	6.277e-05	0.0010	0.0007	0	0	6.533e-05	0.0003	0	0	0.0068	5.88e-05	0.0005	0.0019	0.2	0.20381	T	0.726	0.11515	T	0.002	0.22494	B	0.004	0.18140	B	0.040884	0.24009	N	0.470160	1	0.08975	N	1.385	0.34509	L	2.44	0.32722	T	-1.34	0.33401	N	0.175	0.18784	-1.0682	0.09813	T	0.054	0.22731	T	10	0.012376279	0.00266	T	0.014677	0.34954	T	0.036	0.09122	0.398	0.42590	0.26547132957	0.26150	0.421935847746121	0.42110	0.53814913595	0.51084	0.317902386189	0.13103	T	0.060217	0.31328	T	-0.507238	0.00520	T	-0.508652	0.21454	T	0.0236757202190498	0.01104	T	0.655934	0.26583	T	0.103871815	0.24553	0.11651733	0.28127	0.103871815	0.24553	0.11651733	0.28127	-5.788	0.44470	T	.	.	0.150	0.51394	B	.;.;.	.;.;.	2.916323	0.38697	20.8	0.97283439382756831	0.33195	0.62882	0.31917	D	AEFDGBCI	0.353782	0.44608	N	-0.21725775632088	0.32425	1.828535	-0.069618252304235	0.36653	2.135815	0.968657326036834	0.29069	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.31	4.37	0.51830	5.413000	0.66140	8.203000	0.76806	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.749000	0.35751	0.0:0.1473:0.8527:0.0	14.507	0.67342	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05263	4905.81	37	chr2	106843388	.	G	A	4905.81	.	AC=2;AF=0.053;AN=38;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.31;SOR=0.991	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,110,1126	18	1	0	0
chr2	107827047	107827047	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon1:c.G34C:p.V12L	.	50	1425	43	4	0	51	0.0175801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0037	0.00778754	0.0117	0.0015	0.0105	0.0005	0.0007	0.0077	0.0160	0.0369	0.0065523	1013	154602	rs200269994	0.0062	0.0062	0.0053	0.0071	0.0311	0.0061	0.0060	0.0301	0.0297	0.0009	0.0057	0.0112	0.0001	0.0007	0.0187	0.0047	0.0073	0.0311	0.0042	0.0043	0.0039	0.0046	0.0279	0.0040	0.0039	0.0241	0.0226	0.0011	0	0.0041	0.0130	0	0.0002	0.0170	0.0050	0.0057	0.0279	0.078	0.33923	T	0.019	0.59159	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999983	0.18198	N	1.905	0.50856	L	0.17	0.60485	T	-1.08	0.28084	N	0.3	0.33904	-0.9830	0.34305	T	0.098	0.36574	T	9	0.0045077205	0.00093	T	.	.	.	0.074	0.21613	.	.	0.0482279557977	0.04254	0.023948682735829722	0.02345	.	.	0.881772816181	0.94199	D	0.088728	0.38221	T	-0.521336	0.00432	T	-0.497265	0.22632	T	0.00373020266113619	0.00040	T	0.49835	0.15517	T	0.076150656	0.17202	0.07288651	0.15777	0.076150656	0.17202	0.07288651	0.15777	-2.504	0.05808	T	.	.	0.200	0.42302	B	.	.	2.225963	0.28409	17.79	0.72210839047421527	0.09894	0.47494	0.27995	N	AEFI	0.165060	0.29151	N	-1.01880791318778	0.08214	0.3843195	-1.00716027016521	0.09627	0.4800498	1.13447791479607E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	2.33	-0.383	0.11856	0.967000	0.28941	8.571000	0.77606	-0.635000	0.04468	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.5143:0.0:0.4857:0.0	5.184	0.14502	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016112	0.005263	0.004098	0.013423	0.000000	0.017241	0.037267	0.034615	0.05263	1782.83	33	chr2	107827047	.	G	C	1782.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.73;DP=852;ExcessHet=0.119;FS=0.613;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-1.312;QD=12.13;ReadPosRankSum=-1.511;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	17	0	2	0
chr2	107838873	107838873	G	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon4:c.G314T:p.C105F	.	354	1158	9	1	0	11	0.00472712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	0.0064	.	0.0083	0.0012	0.0032	0.0001	0.0002	0.0135	0.0072	0.0051	0.0004226	11	26028	rs201257819	0.0068	0.0076	0.0068	0.0067	0.0113	0.0066	0.0066	0.0084	0.0076	0.0016	0.0026	0.0054	2.689e-05	0.0006	0.0113	0.0078	0.0064	0.0041	0.0009	0.0037	0.0009	0.0008	0.0014	0.0007	0.0006	0.0011	0.0010	0.0004	0	0.0003	0.0006	0	0.0004	0.0085	0.0014	0.0011	0	0.003	0.68238	D	0.1	0.38742	T	0.91	0.50240	P	0.374	0.43683	B	.	.	.	.	0.815926	0.28943	N	1.795	0.47270	L	1.29	0.35775	T	-5.66	0.87063	D	0.756	0.75466	-0.9425	0.42218	T	0.075	0.30303	T	9	0.013834447	0.00292	T	.	.	.	0.203	0.48915	.	.	0.26547132957	0.26150	0.055147581009005346	0.05455	.	.	0.735643208027	0.72332	T	0.129151	0.45725	T	-0.41153	0.01941	T	-0.360603	0.37984	T	0.0675463819058475	0.08302	T	0.922608	0.71859	D	0.68219423	0.77088	0.79595137	0.88016	0.68219423	0.77089	0.79595137	0.88017	-3.589	0.17698	T	.	.	0.385	0.58733	A	.	.	4.411628	0.68252	25.2	0.91849717677320597	0.21162	0.80262	0.39946	D	AEFI	0.401190	0.47578	N	0.157169927235108	0.49153	3.118827	0.0835817840959671	0.43722	2.66822	2.53260807916806E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	6.634000	0.74149	11.785000	0.96215	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	11.902	0.51974	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017464	0.010000	0.019337	0.010417	0.000000	0.044643	0.008547	0.012931	0.02632	770.33	44	chr2	107838873	.	G	T	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.585;DP=756;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.86;MQRankSum=-0.07;QD=12.04;ReadPosRankSum=0.836;SOR=0.99	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	107863009	107863009	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.C2446T:p.R816C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00749810394954	.	.	0.0030	0.0056	0.0018	0.0013	0.0026	0.0026	0.0038	0.0054	3.84e-05	1	26028	rs766011043	3.09e-05	3.763e-05	2.937e-05	3.244e-05	3.214e-05	2.342e-05	2.086e-05	2.333e-05	2.065e-05	0	0	0	0	0.0001	0	3.214e-05	3.419e-05	1.224e-05	6.997e-05	0.0001	5.975e-05	8.106e-05	9.111e-05	3.585e-05	2.677e-05	2.414e-05	1.326e-05	9.111e-05	0	0	0	0	0.0003	0	6.529e-05	0	0	1.0	0.00964	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.921769	0.27276	N	-2.425	0.00069	N	2.14	0.19450	T	7.05	0.00003	N	0.39	0.43126	-0.9890	0.32853	T	0.012	0.04747	T	9	0.008809537	0.00200	T	0.007498	0.19899	T	0.099	0.28413	0.351	0.34922	0.0401082797425	0.02173	0.05841745805818003	0.05782	.	.	0.681491017342	0.64482	T	0.019668	0.15628	T	-0.261368	0.12740	T	-0.613214	0.11725	T	0.0050751572938049	0.00055	T	0.779322	0.41328	T	0.046607945	0.07831	0.06377719	0.12685	0.046607945	0.07830	0.06377719	0.12684	5.38	0.00002	T	.	.	0.059	0.00780	B	.	.	3.543328	0.49775	22.8	0.082087098339994405	0.00060	0.02150	0.06324	N	AEFI	0.042708	0.06661	N	-1.15873268568843	0.05638	0.2575266	-0.973235833793755	0.10389	0.5229182	1.09470275652647E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	5.109000	0.64456	6.234000	0.55243	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.381000	0.26357	0.0:0.1351:0.0:0.8649	6.362	0.20640	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000626	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004310	0.02632	1472.33	73	chr2	107863009	.	C	T	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=1638;ExcessHet=0;FS=8.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.1;MQRankSum=-0.673;QD=18.18;ReadPosRankSum=-1.127;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	18	0	1	0
chr2	107863015	107863015	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.G2452C:p.E818Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00254934695365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185166956	2.103e-05	2.532e-05	2.095e-05	2.112e-05	2.11e-05	1.492e-05	1.295e-05	1.405e-05	1.174e-05	0	0	0	0	9.527e-05	0	2.11e-05	3.411e-05	0	3.939e-05	4.668e-05	3.026e-05	4.93e-05	4.95e-05	1.452e-05	9.36e-06	1.314e-05	6.64e-06	0	0	0	0	0	0.0003	0	4.95e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999546	0.21009	N	-1.485	0.00523	N	2.09	0.20122	T	1.71	0.00570	N	0.187	0.20395	-0.9565	0.39825	T	0.010	0.03582	T	9	0.03294137	0.01457	T	0.002549	0.05121	T	0.049	0.13647	0.225	0.14960	0.0138822411134	0.00435	0.07698888234091501	0.07634	.	.	0.682731330395	0.64661	T	0.006837	0.06266	T	-0.305926	0.08113	T	-0.677218	0.07155	T	0.020782433699347	0.00778	T	0.378962	0.09121	T	0.046814393	0.07898	0.037605986	0.03450	0.046814393	0.07897	0.037605986	0.03450	-7.209	0.55546	T	.	.	0.171	0.37615	B	.	.	2.369636	0.30405	18.43	0.092779009446700006	0.00091	0.04028	0.09464	N	AEFI	0.037112	0.05053	N	-1.51398607041552	0.01757	0.07695381	-1.29925080203735	0.04441	0.2094958	2.38726055354434E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	2.323000	0.43482	4.963000	0.46353	-0.790000	0.03253	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2226:0.56:0.2174:0.0	5.746	0.17390	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1402.33	73	chr2	107863015	.	G	C	1402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=1632;ExcessHet=0;FS=8.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.51;MQRankSum=-0.647;QD=18.21;ReadPosRankSum=-0.807;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	18	0	1	0
chr2	107863021	107863021	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2458G:p.K820E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00185178221873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425230152	2.042e-05	2.942e-05	2.104e-05	1.979e-05	2.027e-05	1.433e-05	1.239e-05	1.327e-05	1.133e-05	0	0	0	0	9.547e-05	0	2.027e-05	3.427e-05	0	3.978e-05	4.659e-05	3.057e-05	4.977e-05	5.002e-05	1.563e-05	9.45e-06	1.328e-05	6.68e-06	0	0	0	0	0	0.0003	0	5.002e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996059	0.23127	N	-2.455	0.00064	N	2.1	0.19990	T	1.97	0.00421	N	0.296	0.33469	-0.9618	0.38839	T	0.010	0.03627	T	9	0.044572175	0.03428	T	0.001852	0.03219	T	0.118	0.32913	0.274	0.22528	0.0297737177859	0.01360	0.037541671494561835	0.03700	.	.	0.653557062149	0.60491	T	0.006787	0.06218	T	-0.250449	0.14043	T	-0.597529	0.13019	T	0.0781928848828909	0.09754	T	0.654235	0.26451	T	0.065219015	0.13917	0.09678615	0.23011	0.065219015	0.13917	0.09678615	0.23010	-2.853	0.08682	T	.	.	0.082	0.08899	B	.	.	2.731569	0.35759	19.98	0.13604876327655771	0.00274	0.02951	0.07781	N	AEFI	0.021647	0.00987	N	-1.30102668987557	0.03664	0.1640726	-1.08624337370419	0.07970	0.3898958	4.30747365962144E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	6.686000	0.74378	9.984000	0.82942	-0.731000	0.03728	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.1351:0.0:0.8649:0.0	7.990	0.29394	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	73	chr2	107863021	.	A	G	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=1629;ExcessHet=0;FS=4.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.18;MQRankSum=-0.457;QD=17.48;ReadPosRankSum=-0.549;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	18	0	1	0
chr2	107871305	107871305	C	T	exonic	RGPD4	.	stopgain	RGPD4:NM_182588:exon20:c.C3301T:p.R1101X	.	139	1382	1	0	0	1	0.000361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	5.145e-05	0.0001	8.69e-05	0.0001	0	4.696e-05	0	0	3.84e-05	1	26028	rs556511922	2.329e-05	2.326e-05	2.59e-05	2.066e-05	0.0002	1.677e-05	1.48e-05	0.0001	7.817e-05	2.995e-05	0.0002	0	7.557e-05	0	0	1.889e-05	0	0	4.141e-05	3.958e-05	4.018e-05	4.272e-05	0.0002	1.787e-05	1.176e-05	5.588e-05	3.019e-05	2.651e-05	0	0.0002	0	0	0	0	2.992e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.207	0.22998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32575	0.84874	D	0.49944	0.94603	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.945602	0.97018	36	0.99638239397961981	0.76510	0.66703	0.33171	D	AEFI	0.259361	0.37772	N	0.18881935900764	0.50664	3.254138	-0.100047049087459	0.35390	2.046832	1.10332200590765E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.33	-0.118	0.12887	1.708000	0.37518	1.108000	0.24132	0.271000	0.18527	1.000000	0.71638	1.000000	0.68203	0.217000	0.22379	0.534:0.466:0.0:0.0	8.471	0.32148	963	0.08280	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3007.33	221	chr2	107871305	.	C	T	3007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=2726;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.46;MQRankSum=-3.041;QD=10.82;ReadPosRankSum=1.42;SOR=0.537	GT:AD:DP:GQ:PL	0/1:150,128:278:99:3021,0,3410	18	0	1	0
chr2	107880082	107880082	G	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon21:c.G5039A:p.S1680N	.	561	948	13	0	0	13	0.00680985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0116	0.0101837	0.0063	0.0234	0.0043	0	0	0.0056	0.0044	0.0058	0.0059831	925	154602	rs149740184	0.0039	0.0039	0.0038	0.0039	0.0232	0.0038	0.0037	0.0218	0.0213	0.0232	0.0055	0.0600	0	3.744e-05	0.0123	0.0019	0.0083	0.0043	0.0096	0.0098	0.0096	0.0096	0.0217	0.0092	0.0090	0.0205	0.0201	0.0217	0.0647	0.0071	0.0586	0	0	0.0136	0.0025	0.0057	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999978	0.18612	N	-1.795	0.00292	N	1.3	0.35590	T	-0.01	0.07155	N	0.227	0.25499	-1.0051	0.28427	T	0.001	0.00287	T	9	0.0024957657	0.00038	T	.	.	.	0.110	0.31079	.	.	0.0401082797425	0.02173	0.10043015754090968	0.09974	.	.	0.623435258865	0.56214	T	0.004012	0.03423	T	-0.667237	0.00057	T	-0.71496	0.05043	T	0.0042505707572721	0.00045	T	0.434357	0.11884	T	0.0537452	0.10214	0.08793742	0.20471	0.0537452	0.10214	0.08793742	0.20471	-0.855	0.00852	T	.	.	0.130	0.27762	B	.	.	1.413550	0.18294	13.66	0.52742819887358072	0.04805	0.01469	0.04901	N	AEFI	0.029382	0.02763	N	-1.2867235420239	0.03834	0.1720009	-1.13356713013068	0.07066	0.3423706	8.78563616993132E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.854	0.854	0.18144	5.145000	0.64681	9.211000	0.79238	-0.526000	0.04970	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.8127:0.0:0.1873:0.0	5.129	0.14233	960	0.08626	GCC2, Rab binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014371	0.021739	0.024862	0.022124	0.000000	0.008929	0.003731	0.000000	0.02632	2355.33	41	chr2	107880082	.	G	A	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1144;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-2.3;QD=13.46;ReadPosRankSum=-0.148;SOR=0.786	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,101,1800	18	0	1	0
chr2	108247205	108247205	T	C	exonic	SULT1C3	.	nonsynonymous SNV	SULT1C3:NM_001008743:exon2:c.T11C:p.I4T,SULT1C3:NM_001320878:exon2:c.T11C:p.I4T	.	439	1060	21	2	0	25	0.011655	.	.	.	2215923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00154417805914	0.0019	0.000599042	0.0014	0.0002	0.0008	0	0	0.0018	0	0.0022	0.001423	220	154602	rs145344319	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0.0014	0.0022	5.329e-05	7.859e-05	0.0041	0.0019	0.0025	0.0021	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0015	0.0005	0	0.0008	0.0009	0	0	0.0034	0.0019	0.0024	0.0029	0.251	0.17069	T	0.34	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	0.001889	0.00837	N	13.828700	1	0.08975	N	0	0.06538	N	4.78	0.01551	T	-0.4	0.13805	N	0.037	0.01135	-0.9156	0.46142	T	0.003	0.01059	T	10	0.0070406795	0.00160	T	0.001544	0.02420	T	0.023	0.04649	.	.	0.146414634003	0.14194	0.2950949393018245	0.29422	0.0705022220903	0.07900	0.46228787303	0.33624	T	0.001542	0.00986	T	-0.694049	0.00040	T	-0.774657	0.02618	T	0.00395966875437523	0.00042	T	0.328667	0.06851	T	0.030933708	0.02843	0.038975026	0.03885	0.030933708	0.02842	0.038975026	0.03885	-2.529	0.05983	T	.	.	0.061	0.01059	B	.	.	-0.881287	0.00957	0.037	0.49644701866555579	0.04246	0.00727	0.03054	N	AEFBI	0.041655	0.06360	N	-1.97817681628281	0.00236	0.01009899	-2.05030213229017	0.00239	0.01052244	1.60551189643201E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.38	0.02465	-0.421000	0.07118	-0.041000	0.12668	-2.054000	0.00416	0.028000	0.20300	0.002000	0.18203	0.000000	0.00833	0.4973:0.2377:0.0:0.265	3.181	0.06192	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.02632	846.33	28	chr2	108247205	.	T	C	846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=821;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.663;SOR=0.465	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,74:168:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:5917,3041,3833:108259008	6	3	9	1
chr2	108655105	108655105	A	G	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193485:exon1:c.A31G:p.I11V,LIMS1:NM_001371494:exon1:c.A31G:p.I11V,LIMS1:NM_001371499:exon1:c.A31G:p.I11V	.	578	940	3	0	1	4	0.0015932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00211065366782	.	0.000599042	0.0018	0.0004	0.0004	0	0	0.0024	0	0.0031	0.0003074	8	26028	rs552726408	0.0011	0.0011	0.0010	0.0012	0.0017	0.0011	0.0010	0.0013	0.0012	0.0002	0.0008	0.0002	0	0.0002	0.0017	0.0012	0.0009	0.0015	0.0009	0.0009	0.0010	0.0008	0.0026	0.0008	0.0007	0.0019	0.0017	0.0001	0	0.0026	0.0003	0	0.0002	0	0.0011	0.0010	0.0017	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.21260	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9899	0.32626	T	0.038	0.16376	T	9	0.005480647	0.00121	T	0.002111	0.03908	T	.	.	.	.	.	.	0.04385975325115533	0.04329	.	.	0.347984969616	0.17625	T	0.005921	0.05364	T	-0.711289	0.00031	T	-0.79723	0.01973	T	0.00187266397902224	0.00019	T	0.0343466	0.00230	T	.	.	.	.	.	.	.	.	-2.88	0.08945	T	.	.	0.055	0.00693	B	.;.	.;.	0.268091	0.06459	2.934	0.77926895245624639	0.12082	0.00525	0.02440	N	AEBI	0.036461	0.04863	N	-1.33157701789711	0.03320	0.148091	-1.23865267625697	0.05301	0.2522563	0.999172172741162	0.38651	0.617157	0.39670	1	0.547309	0.14657	0	0.602189	0.34648	0	0.687789	0.68303	1	.	.	5.23	3.35	0.37468	-0.477000	0.06663	0.054000	0.14040	-0.112000	0.15009	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1539:0.2711:0.575:0.0	6.731	0.22569	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001245	0.000000	0.001377	0.005682	0.000000	0.000000	0.000000	0.000000	0.02632	292.33	32	chr2	108655105	.	A	G	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=429;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.54;MQRankSum=0.143;QD=14.62;ReadPosRankSum=1.74;SOR=0.368	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,666	18	0	1	0
chr2	108736169	108736169	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon6:c.C702G:p.D234E	.	136	1384	2	0	0	2	0.000722022	.	.	.	628374	Familial_acute_necrotizing_encephalopathy|not_specified	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.00519116099118	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0003	0	0.0008	0.0001921	5	26028	rs148149640	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0007	0.0006	0	0.0002	0	0	0	0.0012	0.0001	0.0002	0.0008	9.848e-05	9.842e-05	7.709e-05	0.0001	0.0004	6.002e-05	4.876e-05	7.909e-05	5.994e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0001	0.0005	0.0004	0.541	0.06779	T	0.238	0.24549	T	0.372	0.34134	B	0.1	0.30674	B	.	.	.	.	0.999816	0.23950	N	1.51	0.38214	L	1.59	0.28836	T	-1.29	0.32387	N	0.63	0.64393	-1.0754	0.08266	T	0.040	0.17020	T	9	0.1357204	0.25825	T	0.005191	0.13218	T	0.153	0.40148	0.255	0.19533	0.764377725622	0.76223	0.1301059518603745	0.12935	0.38567493287	0.39859	0.497942984104	0.38541	T	0.316088	0.68766	T	-0.348958	0.04793	T	-0.374868	0.36320	T	0.0417778986407469	0.04015	T	0.787921	0.42712	T	0.056723427	0.11197	0.06697641	0.13795	0.056723427	0.11197	0.06697641	0.13795	-3.01	0.10289	T	.	.	0.170	0.37445	B	.	.	2.189849	0.27918	17.62	0.99690153194828157	0.79842	0.74298	0.36345	D	AEFBI	0.149746	0.27390	N	-0.0778671945104186	0.38364	2.24584	0.0757442179049967	0.43332	2.63717	0.00169438114149657	0.08790	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	4.23	0.49319	1.000000	0.29371	0.404000	0.18035	0.585000	0.30472	1.000000	0.71638	0.993000	0.31925	0.952000	0.50033	0.2338:0.5918:0.0:0.1744	3.570	0.07463	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2890.33	115	chr2	108736169	.	C	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.045;DP=1101;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.2;MQRankSum=-1.757;QD=13.7;ReadPosRankSum=0.914;SOR=0.621	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr2	108766553	108766553	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C6014G:p.T2005S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0133560641699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.018	0.59732	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.996761	0.43403	D	2.505	0.72935	M	1.61	0.28391	T	-2.57	0.55501	D	0.373	0.41459	-0.8378	0.52793	T	0.200	0.55654	T	9	0.41614744	0.56554	T	0.013356	0.32703	T	0.156	0.40720	0.199	0.11247	0.648601781325	0.64568	0.1632440045804664	0.16244	0.956542286108	0.72841	0.628178715706	0.56887	T	0.755272	0.93326	D	-0.110531	0.34681	T	-0.396547	0.33787	T	0.699636697104021	0.40702	D	0.923208	0.72041	D	0.15443169	0.34954	0.23990944	0.49352	0.15443169	0.34954	0.23990944	0.49351	-10.389	0.76207	D	0.5927194685302472	0.65954	0.550	0.66777	A	.	.	3.724962	0.53253	23.3	0.98241169358989555	0.39485	0.99032	0.90231	D	AEFBI	0.856415	0.77365	D	0.809680823488538	0.86710	8.972934	0.802794798490409	0.89986	10.20691	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.902000	0.86082	7.716000	0.67067	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.953	0.97211	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4185.33	40	chr2	108766553	.	C	G	4185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=1066;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.07;MQRankSum=-1.979;QD=11.28;ReadPosRankSum=-3.046;SOR=0.541	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr2	108767711	108767711	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7172G:p.T2391S	.	129	1390	3	0	0	3	0.00107797	.	.	.	448727	Familial_acute_necrotizing_encephalopathy|not_provided	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0122518310145	.	.	4.226e-05	0	0.0002	0	0	4.622e-05	0	0	0.0034962	91	26028	rs2433786	0.0040	0.0086	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0045	0.0009	0.0024	0.0010	0.0001	0.0033	0.0022	0.0046	0.0042	0.0008	0.0051	0.0055	0.0056	0.0046	0.0088	0.0048	0.0047	0.0082	0.0080	0.0018	0	0.0040	0.0009	0.0004	0.0032	0	0.0088	0.0033	0.0012	0.499	0.07772	T	0.161	0.31326	T	0.268	0.31720	B	0.28	0.40294	B	.	.	.	.	0.997912	0.22840	N	0	0.06538	N	0.9	0.45248	T	-0.9	0.24244	N	0.239	0.26957	-1.0151	0.25304	T	0.055	0.23224	T	9	0.021814346	0.00530	T	0.012252	0.30654	T	0.170	0.43303	0.473	0.54859	0.604599270341	0.60143	0.09958770073658234	0.09889	0.363966548102	0.38019	0.43197453022	0.29478	T	0.114465	0.43230	T	-0.495801	0.00604	T	-0.481235	0.24315	T	0.0250890230857195	0.01285	T	0.0423958	0.00299	T	0.056074448	0.10984	0.061345	0.11832	0.056074448	0.10984	0.061345	0.11831	-4.949	0.36281	T	0.11030140206905947	0.09307	0.095	0.15115	B	.	.	3.388128	0.46898	22.4	0.96315430158120496	0.29397	0.89888	0.50651	D	AEFDBI	0.335022	0.43359	N	-0.192695834077233	0.33436	1.89704	0.0102674842455193	0.40192	2.394654	0.999997239845877	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.47	4.54	0.55220	3.217000	0.50886	3.334000	0.37651	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3071:0.573:0.1199:0.0	8.691	0.33426	850	0.35610	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	612.33	40	chr2	108767711	.	C	G	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.65;DP=934;ExcessHet=0;FS=4.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.66;MQRankSum=-11.44;QD=2.31;ReadPosRankSum=1.54;SOR=1.039	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr2	108768038	108768038	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7499T:p.T2500I	.	135	1363	23	1	0	25	0.0090876	.	.	.	365495	not_specified|Familial_acute_necrotizing_encephalopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	0.00856227742663	0.0015	0.00139776	0.0027	0.0003	0.0008	0	0	0.0029	0.0066	0.0070	0.0023221	359	154602	rs140280672	0.0016	0.0016	0.0014	0.0019	0.0121	0.0016	0.0016	0.0094	0.0085	0.0003	0.0007	0.0272	0	0	0.0121	0.0007	0.0030	0.0072	0.0013	0.0013	0.0012	0.0014	0.0071	0.0012	0.0011	0.0052	0.0046	0.0001	0	0.0003	0.0274	0	9.432e-05	0.0068	0.0008	0.0024	0.0071	0.04	0.42199	D	0.001	0.83351	D	0.055	0.22733	B	0.008	0.13708	B	.	.	.	.	0.984944	0.24755	N	2.24	0.63355	M	1.52	0.30669	T	-2.97	0.61865	D	0.164	0.17278	-1.0426	0.16532	T	0.078	0.31133	T	9	0.0037479103	0.00070	T	0.008562	0.22631	T	0.067	0.19503	.	.	0.271610670623	0.26767	0.2872351489239603	0.28636	0.453889941167	0.45073	0.377137988806	0.21850	T	0.643506	0.89096	D	-0.576731	0.00202	T	-0.597065	0.13059	T	0.0382993759863325	0.03386	T	0.868313	0.57032	D	0.14970307	0.34116	0.14868432	0.35137	0.14970307	0.34116	0.14868432	0.35136	-5.028	0.37143	T	0.2951649030215336	0.39209	0.117	0.23605	B	.	.	2.581300	0.33471	19.35	0.99795765758653443	0.88106	0.35455	0.25306	N	AEFDBI	0.166553	0.29315	N	-0.350681026129678	0.27247	1.493391	-0.265479786162202	0.29244	1.636846	0.99999933746556	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.61	3.81	0.43020	1.606000	0.36437	2.245000	0.31642	0.549000	0.26987	0.010000	0.18352	0.010000	0.20010	0.998000	0.85391	0.0:0.8613:0.0:0.1387	12.135	0.53269	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012005	0.007937	0.009589	0.021930	0.000000	0.035714	0.000000	0.004202	0.02632	4996.33	40	chr2	108768038	.	C	T	4996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.816;DP=1058;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=1.46;QD=13.18;ReadPosRankSum=0.191;SOR=0.649	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr2	108781340	108781340	G	A	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon26:c.G8671A:p.G2891S	.	0	1517	5	0	0	5	0.00164528	.	.	.	516295	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00259585	0.0011	0.0002	0.0006	0.0003	0	6.003e-05	0	0.0069	0.0009767	151	154602	rs376940698	0.0005	0.0005	0.0003	0.0008	0.0069	0.0005	0.0005	0.0065	0.0063	5.974e-05	0.0007	0.0004	0.0019	1.872e-05	0.0005	2.878e-05	0.0006	0.0069	0.0004	0.0004	0.0002	0.0006	0.0077	0.0003	0.0003	0.0057	0.0050	4.814e-05	0	0.0002	0.0012	0.0012	0	0	4.411e-05	0.0005	0.0077	0.58	0.05992	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.5	0.00507	N	1.74	0.26301	T	1.21	0.01064	N	0.094	0.07398	-0.9620	0.38800	T	0.013	0.05033	T	9	0.0043631196	0.00089	T	.	.	.	0.021	0.04004	.	.	0.15499578495	0.15088	0.09860042773383884	0.09791	0.351519266258	0.36992	0.279061615467	0.07362	T	0.114437	0.43226	T	-0.687151	0.00043	T	-0.757071	0.03218	T	0.00417180793140321	0.00044	T	0.155884	0.01367	T	0.019634185	0.00498	0.034645382	0.02569	0.019634185	0.00497	0.034645382	0.02568	-2.311	0.04615	T	0.04573714328647655	0.00598	0.069	0.03231	B	.	.	0.313853	0.06887	3.424	0.19921633511793266	0.00694	0.03404	0.08522	N	AEFBI	0.032487	0.03680	N	-1.56708925986297	0.01437	0.06268964	-1.44026719315202	0.02859	0.1323192	0.996104888014782	0.34527	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	0.789	0.17750	0.615000	0.24023	0.819000	0.21831	-0.292000	0.06281	0.004000	0.16614	0.008000	0.19753	0.206000	0.22070	0.5584:0.2406:0.201:0.0	5.699	0.17144	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	416.33	33	chr2	108781340	.	G	A	416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=663;ExcessHet=0;FS=1.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.578;SOR=0.914	GT:AD:DP:GQ:PL	0/1:32,17:49:99:430,0,742	18	0	1	0
chr2	109129946	109129946	C	T	exonic	SH3RF3	.	nonsynonymous SNV	SH3RF3:NM_001099289:exon1:c.C406T:p.P136S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.100587773131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs974527688	1.517e-06	4.788e-06	1.49e-06	1.545e-06	1.905e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.905e-06	0	0	6.593e-06	6.569e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.503	0.07670	T	0.73	0.05165	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	0.16	0.05217	N	0.11	0.09631	-1.0110	0.26604	T	0.057	0.23866	T	8	0.050785184	0.04862	T	0.100588	0.77296	D	0.014	0.01968	0.233	0.16155	0.102598925029	0.09809	0.3569931502599159	0.35613	0.192786017122	0.21608	0.81636941433	0.84471	D	0.002813	0.02207	T	-0.352784	0.04554	T	-0.744526	0.03703	T	0.0499625510984024	0.05494	T	0.491551	0.15120	T	0.028086325	0.02093	0.078679465	0.17644	0.028086325	0.02092	0.078679465	0.17644	-3.449	0.15725	T	.	.	0.066	0.02118	B	.	.	0.685795	0.10542	7.254	0.93464623731424612	0.23253	0.06330	0.12327	N	AEFDBCIJ	0.056137	0.10355	N	-1.08154010073936	0.06983	0.3230734	-1.12223807567815	0.07277	0.3533328	0.9999457274008	0.47345	0.59774	0.34471	0	0.552344	0.17405	0	0.596491	0.31596	0	0.492483	0.08430	1	.	.	3.89	0.317	0.15106	-0.030000	0.12257	2.280000	0.31891	0.578000	0.29377	0.000000	0.06391	0.997000	0.33255	0.046000	0.14843	0.2799:0.5052:0.2149:0.0	7.869	0.28719	397	0.82902	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	448.33	25	chr2	109129946	.	C	T	448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.501;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.415;SOR=0.551	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	18	0	1	0
chr2	109553086	109553086	C	G	splicing	SEPTIN10	NM_001321507:exon7:c.762+1G>C;NM_001321510:exon6:c.660+1G>C;NM_001321499:exon6:c.660+1G>C;NM_001321511:exon5:c.591+1G>C;NM_001321509:exon9:c.1035+1G>C;NM_178584:exon8:c.1092+1G>C;NM_144710:exon9:c.1161+1G>C;NM_001321506:exon5:c.591+1G>C;NM_001321496:exon7:c.762+1G>C;NM_001321505:exon6:c.582+1G>C;NM_001321513:exon9:c.1134+1G>C;NM_001321515:exon8:c.1065+1G>C;NM_001321514:exon9:c.1116+1G>C;NM_001321500:exon8:c.1092+1G>C;NM_001321504:exon6:c.582+1G>C;NM_001321512:exon9:c.1161+1G>C;NM_001321498:exon9:c.1161+1G>C;NM_001321501:exon9:c.1035+1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.557e-06	0.0002	9.571e-06	5.523e-06	9.017e-06	4.06e-06	2.96e-06	4.56e-06	3.32e-06	0	0	0	0	0	0	9.017e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348181	0.86382	D	0.262362	0.86203	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.054848	0.84220	28.3	0.99516967320173511	0.68979	0.99561	0.97457	D	AEFBI	.	.	.	1.01798668413956	0.96272	14.49747	0.833271238848173	0.92001	11.18292	0.999999995839285	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.231514	0.04749	0	0.221052	0.04502	0	0.966943	0.69625	4.78	4.78	0.60666	7.533000	0.80893	5.950000	0.51632	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	17.406	0.87364	808	0.43318	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03846	32.19	34	chr2	109553086	.	C	G	32.19	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.75;DP=983;ExcessHet=0;FS=49.721;InbreedingCoeff=-0.1232;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.438;SOR=4.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	12	0	1	6
chr2	109615093	109615093	C	T	exonic	SOWAHC	.	nonsynonymous SNV	SOWAHC:NM_023016:exon1:c.C604T:p.R202C	.	434	1079	7	2	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.302855200115	0.0001	0.00119808	0.0047	0.0010	0.0046	0	0	0.0002	0	0.0081	0.0004916	76	154602	rs372917403	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	6.336e-05	0	0	2.799e-05	0	0.0014	4.728e-05	0.0004	0.0086	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	2.94e-05	0	0.0058	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.799	0.58136	P	0.002940	0.35704	N	0.236671	0.981802	0.25012	N	2.62	0.76659	M	1.59	0.28836	T	-3.71	0.70674	D	0.2	0.22098	-1.0526	0.13682	T	0.088	0.34050	T	10	0.005182892	0.00113	T	0.302855	0.90939	D	0.147	0.38986	.	.	0.146414634003	0.14194	0.4825705525211693	0.48177	.	.	0.725829720497	0.70897	T	0.117832	0.43820	T	-0.418869	0.01739	T	-0.366776	0.37265	T	0.0921842563577738	0.11474	T	0.714629	0.32694	T	0.35899708	0.57759	0.2714814	0.53049	0.35899708	0.57760	0.2714814	0.53048	-5.841	0.44930	T	.	.	0.141	0.30971	B	.	.	3.754574	0.53839	23.4	0.99852211400378554	0.93102	0.05636	0.11547	N	AEFDBCI	0.102652	0.20587	N	-0.238732698998468	0.31556	1.770581	-0.377779147922745	0.25661	1.41256	0.999999909914771	0.74766	0.652421	0.48094	0	0.296712	0.05252	1	0.64067	0.45733	0	0.404113	0.06833	1	.	.	3.98	3.98	0.45383	0.025000	0.13469	4.038000	0.41399	0.463000	0.21641	0.000000	0.06391	0.999000	0.35428	0.051000	0.15275	0.0:1.0:0.0:0.0	13.901	0.63306	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001761	0.000000	0.000000	0.003817	0.000000	0.000000	0.000000	0.007353	0.02632	857.33	33	chr2	109615093	.	C	T	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=741;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.083;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	18	0	1	0
chr2	110164552	110164552	G	T	exonic	NPHP1	.	nonsynonymous SNV	NPHP1:NM_000272:exon8:c.C907A:p.R303S,NPHP1:NM_207181:exon8:c.C907A:p.R303S	Joubert syndrome 4, Autosomal recessive;Nephronophthisis 1, juvenile, Autosomal recessive;Senior-Loken syndrome-1, Autosomal recessive	5	1515	2	0	0	2	0.000659631	.	.	.	1347298	Senior-Loken_syndrome_1|Nephronophthisis_1|Joubert_syndrome_with_renal_defect|Inborn_genetic_diseases|Nephronophthisis	MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphanet:3156|MONDO:MONDO:0009728,MedGen:C1855681,OMIM:256100,Orphanet:655,Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583,Orphanet:220497|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00333819525995	0.0002	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs142670785	3.509e-05	4.11e-05	2.941e-05	4.078e-05	0.0002	2.699e-05	2.436e-05	3.269e-05	2.924e-05	0	0	0	0	0	0.0002	4.266e-05	5.076e-05	0	5.296e-05	5.272e-05	5.167e-05	5.433e-05	0.0001	2.574e-05	1.842e-05	5.853e-05	4.247e-05	0	0	0	0	0	0	0	0.0001	0	0	0.537	0.08261	T	0.79	0.18449	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.2	0.60361	T	-0.56	0.17834	N	0.148	0.15046	-0.9986	0.30311	T	0.054	0.22921	T	9	0.064249754	0.08492	T	0.003338	0.07451	T	0.085	0.24743	.	.	0.544652427739	0.54119	0.3306527555716022	0.32978	0.0881719619469	0.09959	.	.	.	0.07311	0.34618	T	-0.292909	0.09347	T	-0.550863	0.17244	T	0.0258920804424797	0.01391	T	0.236176	0.03494	T	0.082781605	0.19085	0.046383835	0.06452	0.082781605	0.19085	0.046383835	0.06452	-2.732	0.09335	T	0.08910616465072307	0.05410	0.236	0.46938	B	.;.	.;.	-0.002530	0.04265	1.061	0.17595533782944922	0.00519	0.03279	0.08322	N	AEFI	0.061651	0.11800	N	-2.06472793260997	0.00153	0.006548121	-2.09541953796694	0.00191	0.008390258	0.0763823237010231	0.15726	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.92	-5.97	0.02041	-0.160000	0.10029	-0.004000	0.13159	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2717:0.2309:0.3317:0.1656	0.959	0.01304	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1122.33	46	chr2	110164552	.	G	T	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=834;ExcessHet=0;FS=2.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.339;SOR=0.434	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	110457071	110457071	T	C	exonic	LIMS4	.	nonsynonymous SNV	LIMS4:NM_001371340:exon3:c.A368G:p.H123R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.194633888565	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408796126	0.0005	0.0006	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0002	0	0	0.0141	0.0001	0	0	0.0003	0.0007	0.0002	0.0004	0.0006	0.0007	0	.	6.746e-05	2.827e-05	.	.	0	0	0	0.0068	0	0	0.0455	0	0	0	.	.	.	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	0.999848	0.49770	D	.	.	.	.	.	.	.	.	.	0.609	0.62611	-0.0536	0.81130	T	0.585	0.85122	D	5	0.6312955	0.68531	D	0.194634	0.86374	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068514	0.33476	T	.	.	.	.	.	.	.	.	.	0.963754	0.86559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45798	B	.	.	3.795850	0.54659	23.5	0.99123815021696837	0.53063	0.93900	0.59517	D	AEFI	0.665772	0.63447	D	0.0288546034386853	0.43171	2.61529	-0.0074757725768311	0.39375	2.333746	0.00392958359142553	0.10341	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.0	2.0	0.25495	7.477000	0.80071	7.913000	0.74126	0.297000	0.18867	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	7.962	0.29240	958	0.09170	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	230.32	.	chr2	110457071	.	T	C	230.32	.	AC=2;AF=0.125;AN=16;DP=71;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.25;MQ=25.77;QD=28.79;SOR=4.407	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	1	0	11
chr2	110794148	110794148	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon5:c.G319A:p.E107K,ACOXL:NM_001365487:exon5:c.G319A:p.E107K,ACOXL:NM_001371254:exon5:c.G319A:p.E107K	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0031	0.00858626	0.0072	0.0012	0.0054	0.0001	0.0036	0.0048	0.0101	0.0267	0.0067011	1036	154602	rs150003283	0.0057	0.0057	0.0050	0.0064	0.0278	0.0056	0.0056	0.0269	0.0265	0.0010	0.0045	0.0067	0	0.0039	0.0137	0.0044	0.0058	0.0278	0.0046	0.0046	0.0044	0.0047	0.0313	0.0043	0.0042	0.0272	0.0257	0.0009	0.0132	0.0052	0.0037	0.0002	0.0052	0.0204	0.0048	0.0066	0.0313	0.181	0.38633	T	0.997	0.12281	T	0.963	0.55692	D	0.49	0.47330	P	0.017858	0.27622	N	0.269326	0.643766	0.32900	D	0.02	0.07987	N	-3.54	0.94799	D	-1.11	0.28703	N	0.454	0.51137	0.418	0.89363	D	0.620	0.86605	D	10	0.012831628	0.00274	T	.	.	.	0.417	0.72705	.	.	0.759181903428	0.75699	0.4340138023773377	0.43318	0.480607175355	0.47077	0.413700193167	0.26968	T	0.24249	0.61124	T	-0.200347	0.20756	T	-0.0409645	0.67637	D	0.01714679548178	0.00459	T	0.789521	0.45334	T	0.034968484	0.04025	0.05617905	0.09992	0.034968484	0.04025	0.05617905	0.09992	-6.138	0.55811	T	.	.	0.102	0.20235	B	.;.;.	.;.;.	2.961285	0.39439	21.0	0.99908643534056318	0.97875	0.70441	0.34591	D	AEFBI	0.114364	0.22529	N	-0.0346067539696674	0.40293	2.390379	-0.0312167145111858	0.38313	2.255471	0.988516361138336	0.31541	0.719381	0.83141	0	0.610034	0.51514	0	0.723133	0.82415	0	0.530356	0.10902	0	.	.	5.33	3.53	0.39533	2.062000	0.41039	0.634000	0.20256	0.676000	0.76740	0.990000	0.36992	0.084000	0.22431	0.987000	0.62547	0.0824:0.1491:0.7686:0.0	9.015	0.35324	867	0.32089	Acyl-CoA oxidase/dehydrogenase, central domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.008772	0.000000	0.008621	0.012195	0.018939	0.05263	2361.83	33	chr2	110794148	.	G	A	2361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=817;ExcessHet=0.119;FS=1.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.45;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	938.33	107	chr2	110963643	.	G	A	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=821;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.549;SOR=0.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	18	0	1	0
chr2	110995975	110995975	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon14:c.C1252T:p.R418W,ACOXL:NM_001371254:exon15:c.C1342T:p.R448W	.	427	1093	1	0	1	2	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0044	0.00419329	0.0011	0.0137	0.0006	0	0	4.499e-05	0	6.057e-05	0.0010414	161	154602	rs139353759	0.0004	0.0004	0.0004	0.0003	0.0144	0.0004	0.0003	0.0132	0.0127	0.0144	0.0007	0	5.039e-05	0	0.0016	0.0001	0.0007	0	0.0034	0.0034	0.0035	0.0033	0.0143	0.0031	0.0030	0.0132	0.0128	0.0143	0	0.0012	0	0	0	0	0.0002	0.0010	0	0.078	0.42199	T	0.046	0.92824	D	0.021	0.18474	B	0.033	0.22329	B	0.036168	0.24554	N	0.350307	0.554608	0.32162	D	2.125	0.59049	M	0.84	0.47477	T	-3.62	0.90771	D	0.321	0.37509	-0.9977	0.30563	T	0.095	0.35844	T	10	0.003551811	0.00064	T	.	.	.	0.078	0.22779	.	.	0.252681307341	0.24864	0.34142744704328043	0.34055	0.20919778314	0.23389	0.262737989426	0.05220	T	0.121073	0.44378	T	-0.53386	0.00365	T	-0.528599	0.19426	T	0.0309473164042663	0.02137	T	0.746025	0.37241	T	0.15355076	0.34799	0.15679084	0.36693	0.15355076	0.34799	0.15679084	0.36692	-8.5	0.72029	D	.	.	0.215	0.44410	B	.;.;.;.	.;.;.;.	1.507218	0.19370	14.23	0.81631563064624102	0.13781	0.39963	0.26330	N	AEFBI	0.173864	0.30096	N	-0.752521631796553	0.14565	0.7265895	-0.710476774786177	0.16699	0.8846774	0.995770277412393	0.34318	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.58	2.76	0.31527	-0.283000	0.08467	-3.770000	0.02549	-0.172000	0.11096	0.925000	0.32113	0.000000	0.08366	0.859000	0.40722	0.1454:0.6826:0.0:0.172	6.582	0.21795	.	.	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	39	chr2	110995975	.	C	T	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=795;ExcessHet=0;FS=0.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.886;SOR=0.627	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr2	111092935	111092935	C	T	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon17:c.C1511T:p.T504I,ACOXL:NM_001371254:exon18:c.C1601T:p.T534I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	.	0.00898562	0.0050	9.612e-05	0.0003	0	0	1.499e-05	0.0044	0.0365	0.0044178	683	154602	rs375847802	0.0023	0.0023	0.0013	0.0033	0.0360	0.0022	0.0022	0.0350	0.0346	0.0001	6.709e-05	3.827e-05	0.0002	0	0.0017	5.666e-05	0.0023	0.0360	0.0013	0.0013	0.0006	0.0021	0.0406	0.0012	0.0011	0.0360	0.0342	7.229e-05	0	0	0	0.0004	0	0.0034	1.47e-05	0	0.0406	0.08	0.33585	T	0.019	0.63109	D	0.347	0.33585	B	0.248	0.38946	B	0.009584	0.30291	N	0.269725	0.656032	0.33008	D	2.215	0.62545	M	0.73	0.50721	T	-3.65	0.69950	D	0.294	0.41459	-0.9652	0.38171	T	0.137	0.45337	T	10	0.0046423674	0.00097	T	.	.	.	0.207	0.49555	0.572	0.69564	0.434272847907	0.43049	0.40634966700123853	0.40550	0.355027518676	0.37268	0.497088760138	0.38422	T	0.032712	0.22604	T	-0.284399	0.10207	T	-0.155533	0.58752	T	0.0253618148546537	0.01320	T	0.725127	0.33902	T	0.50962067	0.67657	0.4348326	0.66990	0.50962067	0.67658	0.4348326	0.66990	-6.641	0.66525	T	.	.	0.440	0.61775	A	.;.;.	.;.;.	1.013970	0.13930	10.49	0.99372470325919959	0.61498	0.16611	0.19469	N	AEFBI	0.074752	0.14992	N	-0.481965154704816	0.22673	1.212245	-0.50776382060406	0.21941	1.189402	0.00113357524713481	0.08261	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.530356	0.10902	0	.	.	5.97	2.14	0.26518	0.241000	0.17843	0.376000	0.17729	0.599000	0.40250	0.162000	0.23825	0.025000	0.21018	0.708000	0.34389	0.2552:0.5518:0.1233:0.0697	5.457	0.15894	783	0.47268	Acyl-CoA oxidase, C-terminal;.;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002535	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	726.33	33	chr2	111092935	.	C	T	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=663;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.133;SOR=1.07	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	18	0	1	0
chr2	111833262	111833262	T	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon20:c.A2434G:p.T812A	.	.	.	.	.	.	.	.	.	.	.	2363651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00410687717145	.	.	0.0001	0	0	0	0	0	0	0.0010	3.84e-05	1	26028	rs769523865	4.272e-05	4.241e-05	2.19e-05	6.383e-05	0.0006	3.401e-05	3.087e-05	0.0005	0.0005	0	0	0	0	3.766e-05	0	9.058e-07	6.678e-05	0.0006	6.573e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.411	0.10115	T	0.813	0.03910	T	0.0	0.02946	B	0.0	0.01387	B	0.001520	0.38793	U	0.000000	0.999862	0.19989	N	0.29	0.10111	N	.	.	.	-0.38	0.13418	N	0.137	0.13484	-1.0218	0.23129	T	0.051	0.21806	T	9	0.04121679	0.02758	T	0.004107	0.09838	T	0.020	0.03691	0.342	0.33464	0.0297737177859	0.01360	0.1440123693634915	0.14324	.	.	0.349791049957	0.17891	T	0.005031	0.04462	T	-0.450832	0.01117	T	-0.524571	0.19833	T	0.0159781118856463	0.00380	T	0.609039	0.23055	T	0.07923403	0.18090	0.028976792	0.01186	0.07923403	0.18090	0.028976792	0.01186	-3.335	0.14193	T	.	.	0.058	0.00647	B	.	.	1.650357	0.21054	15.03	0.9479581287610146	0.25540	0.40708	0.26496	N	AEFBI	0.039432	0.05728	N	-0.758552685309237	0.14402	0.7171171	-0.656160658015593	0.18061	0.9631884	1.60900025767574E-4	0.05650	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.4	2.0	0.25495	1.028000	0.29734	0.143000	0.15197	0.573000	0.29008	0.996000	0.39380	0.140000	0.23083	0.962000	0.52141	0.0:0.2653:0.0:0.7347	7.669	0.27616	909	0.22467	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1821.33	33	chr2	111833262	.	T	C	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.704;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.31;MQRankSum=-3.304;QD=15.05;ReadPosRankSum=0.656;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr2	112021489	112021489	T	C	exonic	MERTK	.	nonsynonymous SNV	MERTK:NM_006343:exon17:c.T2257C:p.Y753H	Retinitis pigmentosa 38, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.0661501963694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.008831	0.30645	U	0.000000	1	0.81001	D	2	0.54354	M	-1.72	0.83241	D	-4.82	0.80943	D	0.857	0.95608	0.488	0.90376	D	0.685	0.89136	D	10	0.8540115	0.84590	D	0.06615	0.69791	D	0.838	0.94914	0.719	0.85408	0.937624962539	0.93697	0.8033696096349648	0.80290	0.686564950529	0.60336	0.883773088455	0.94464	D	0.663116	0.89915	D	0.303075	0.83213	D	0.19757	0.82994	D	0.998410701751709	0.94084	D	0.972803	0.96889	D	0.88403445	0.90002	0.8854505	0.93945	0.88403445	0.90003	0.8854505	0.93945	-12.743	0.88276	D	0.7431990869793649	0.82528	0.952	0.93631	P	.;.;.;.;.	.;.;.;.;.	5.377920	0.90137	31	0.99842536766616752	0.92316	0.88975	0.49171	D	AEBCI	0.909481	0.86618	D	0.725798806598713	0.81323	7.495422	0.690628536829012	0.81665	7.580557	0.999999999982447	0.74766	0.722319	0.85440	0	0.588015	0.36545	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	8.017000	0.88732	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.300	0.73644	904	0.23766	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr2	112021489	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=690;ExcessHet=0;FS=8.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.518;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	18	0	1	0
chr2	112389563	112389563	C	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.G3382A:p.A1128T,RGPD5:NM_005054:exon20:c.G3382A:p.A1128T	.	117	1380	25	0	0	25	0.00897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0117884177492	.	0.00159744	0.0016	0.0003	0.0013	0	0	0.0012	0.0079	0.0034	0.0006533	101	154602	rs200798390	0.0010	0.0010	0.0008	0.0011	0.0073	0.0009	0.0009	0.0052	0.0045	0.0005	0.0009	0.0049	2.519e-05	0.0002	0.0073	0.0007	0.0017	0.0038	0.0011	0.0011	0.0010	0.0012	0.0039	0.0009	0.0009	0.0026	0.0021	0.0002	0	0.0018	0.0055	0.0002	9.422e-05	0.0068	0.0011	0.0038	0.0039	0.474	0.15930	T	0.061	0.45530	T	0.993	0.65571	D	0.967	0.71530	D	.	.	.	.	0.783633	0.34298	D	2.295	0.65404	M	0.83	0.47815	T	-2.32	0.51478	N	0.77	0.80180	-0.8638	0.50988	T	0.189	0.54064	T	9	0.024629205	0.00684	T	0.011788	0.29763	T	0.176	0.44373	.	.	0.0846915920261	0.08053	0.018012939980075516	0.01755	.	.	0.760875821114	0.76059	T	0.017391	0.21649	T	-0.368876	0.03651	T	-0.303479	0.44355	T	0.0596955825237714	0.07120	T	0.955004	0.82846	D	0.15582679	0.35198	0.16746406	0.38633	0.15582679	0.35198	0.16746406	0.38632	-9.788	0.72632	D	.	.	0.310	0.53793	B	.;.	.;.	3.837150	0.55501	23.6	0.98953823016604758	0.49189	0.84527	0.43609	D	AEFI	0.489665	0.52747	N	0.171251221420047	0.49823	3.178443	0.0379768823520195	0.41495	2.493846	9.5524812134711E-5	0.04910	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	4.740000	0.61783	-3.510000	0.02732	0.268000	0.18485	1.000000	0.71638	0.000000	0.08366	0.665000	0.33109	0.2945:0.7055:0.0:0.0	6.327	0.20457	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010996	0.000000	0.006906	0.023810	0.083333	0.017544	0.016129	0.004425	0.02632	1770.33	34	chr2	112389563	.	C	T	1770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.093;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.99;MQRankSum=-0.322;QD=3.89;ReadPosRankSum=0.489;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	18	0	1	0
chr2	112389647	112389647	G	A	exonic	RGPD5;RGPD8	.	stopgain	RGPD8:NM_001164463:exon20:c.C3298T:p.R1100X,RGPD5:NM_005054:exon20:c.C3298T:p.R1100X	.	139	1382	1	0	0	1	0.000361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448577135	8.292e-06	1.368e-05	9.624e-06	6.946e-06	9.013e-06	4.42e-06	3.49e-06	4.56e-06	3.32e-06	0	0	0	0	0	0	9.013e-06	3.331e-05	0	1.412e-05	1.988e-05	1.365e-05	1.463e-05	3.078e-05	2.35e-06	8.8e-07	5.11e-06	1.91e-06	0	0	0	0	0	0	0	3.078e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.474	0.50958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353232	0.86726	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.605960	0.96685	36	0.99558902439723906	0.71645	0.70352	0.34555	D	AEFI	0.178879	0.30616	N	0.271184720850043	0.54692	3.634344	0.00428280944829224	0.39914	2.373816	1.10835367914579E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.3	-0.183	0.12631	2.499000	0.45032	-2.767000	0.03382	0.299000	0.18918	1.000000	0.71638	0.000000	0.08366	0.891000	0.42908	0.0:0.0:0.3613:0.6386	7.110	0.24564	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	419.33	225	chr2	112389647	.	G	A	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.665;DP=3919;ExcessHet=0;FS=13.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.82;MQRankSum=-4.162;QD=1.47;ReadPosRankSum=0.847;SOR=1.736	GT:AD:DP:GQ:PL	0/1:241,44:285:99:433,0,6095	18	0	1	0
chr2	112389745	112389745	A	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.T3200A:p.F1067Y,RGPD5:NM_005054:exon20:c.T3200A:p.F1067Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.00966507269189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.23007	T	0.536	0.09897	T	0.674	0.41239	P	0.829	0.59562	P	.	.	.	.	0.527576	0.31948	D	0.335	0.10427	N	0.97	0.42502	T	-1.63	0.39119	N	0.784	0.78072	-1.0335	0.19332	T	0.098	0.36754	T	9	0.7097076	0.72965	D	0.009665	0.25245	T	0.270	0.58507	0.809	0.92581	0.0138822411134	0.00435	0.010744106004135221	0.01035	.	.	0.900638580322	0.96512	D	0.027897	0.30725	T	-0.0681728	0.41618	T	-0.335702	0.40831	T	0.398162806182405	0.28873	T	0.791221	0.45479	T	0.13623948	0.31589	0.07944704	0.17886	0.13623948	0.31589	0.07944704	0.17886	-2.784	0.08037	T	.	.	0.248	0.54146	B	.;.	.;.	3.247373	0.44358	21.9	0.87674924704279578	0.17399	0.86335	0.45595	D	AEI	0.449616	0.50436	N	-0.139648975632851	0.35676	2.052275	-0.181101952415185	0.32231	1.831716	1.8629812697016E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.797000	0.68743	-0.031000	0.12795	0.330000	0.19542	1.000000	0.71638	0.000000	0.08366	0.834000	0.39329	0.715:0.0:0.0:0.2849	4.631	0.11888	915	0.20917	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	854.33	45	chr2	112389745	.	A	T	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.539;DP=1043;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.16;MQRankSum=3.31;QD=8.72;ReadPosRankSum=-2.112;SOR=0.397	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C,CKAP2L:NM_152515:exon9:c.C2185T:p.R729C	Filippi syndrome, Autosomal recessive	439	1042	40	1	0	42	0.0197554	.	.	.	696976	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.005051	0.010870	0.002924	0.000000	0.000000	0.015244	0.015152	0.02632	1446.33	34	chr2	112738876	.	G	A	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=737;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.063;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr2	112781781	112781781	T	C	exonic	IL1A	.	nonsynonymous SNV	IL1A:NM_000575:exon4:c.A142G:p.M48V,IL1A:NM_001371554:exon4:c.A142G:p.M48V	.	421	1096	5	0	0	5	0.00227583	.	.	.	3192472	IL1A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.016	.	.	0.00239617	0.0012	9.61e-05	0.0003	0.0002	0	0.0001	0.0011	0.0078	0.0010608	164	154602	rs369264124	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	6.708e-05	0	0	1.872e-05	0.0010	4.047e-05	0.0005	0.0074	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0	5.88e-05	0.0009	0.0083	0.735	0.03753	T	0.532	0.10034	T	0.003	0.11197	B	0.005	0.11217	B	0.914614	0.08529	N	0.962343	1	0.08975	N	0.46	0.12951	N	1.0	0.41392	T	-0.8	0.22078	N	0.104	0.08786	-0.9384	0.42869	T	0.059	0.24686	T	10	0.0056381226	0.00125	T	.	.	.	0.016	0.02506	.	.	0.326616659874	0.32268	0.1337213303931991	0.13296	0.34718799159	0.36609	0.287189394236	0.08514	T	0.11704	0.43683	T	-0.665952	0.00058	T	-0.725645	0.04528	T	0.0123537263944126	0.00201	T	0.470553	0.13922	T	0.034499295	0.03882	0.033582523	0.02276	0.034499295	0.03882	0.033582523	0.02276	-2.3	0.04555	T	.	.	0.085	0.10256	B	.	.	-0.487968	0.01906	0.159	0.44223580576665367	0.03385	0.03195	0.08186	N	AEFGBHCI	0.032669	0.03732	N	-1.4482617174076	0.02230	0.0982701	-1.52867040641082	0.02126	0.09732255	0.999999985125046	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.68	-6.2	0.01894	-0.990000	0.03842	-0.959000	0.06786	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1284:0.4772:0.1321:0.2623	4.419	0.10897	625	0.65529	Interleukin-1 propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1213.33	33	chr2	112781781	.	T	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=710;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.327;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	18	0	1	0
chr2	112913015	112913015	G	A	exonic	IL37	.	startloss	IL37:NM_014439:exon2:c.G3A:p.M1?,IL37:NM_173202:exon2:c.G3A:p.M1?,IL37:NM_173203:exon2:c.G3A:p.M1?,IL37:NM_173204:exon2:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	3225390	Inflammatory_bowel_disease_(infantile_ulcerative_colitis)_31,_autosomal_recessive	MONDO:MONDO:0030314,MedGen:C5444224,OMIM:619398	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0580025385033	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs776169140	1.752e-05	1.779e-05	1.254e-05	2.256e-05	2.093e-05	1.203e-05	1.016e-05	1.394e-05	1.164e-05	0	0	0	0	0	0	2.093e-05	1.694e-05	1.251e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.349e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.924	0.52359	P	0.827	0.59428	P	0.053709	0.22785	N	0.232221	0.998468	0.22137	N	.	.	.	0.24	0.59583	T	-0.79	0.25986	N	0.851	0.84713	-0.4621	0.69997	T	0.292	0.66326	T	9	0.9669539	0.96198	D	0.058003	0.67166	D	0.283	0.60100	0.974	0.99756	0.408172294925	0.40431	0.21522970099255834	0.21438	.	.	.	.	.	0.001749	0.01176	T	0.253032	0.78885	D	0.150867	0.80240	D	0.991132080554962	0.81393	D	0.9	0.65058	D	0.9130142	0.92577	0.75102955	0.85284	0.9130142	0.92578	0.75102955	0.85285	-6.594	0.53873	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.021527	0.40446	21.2	0.99252197031941614	0.56924	0.57516	0.30397	D	AEFBI	0.012603	0.00142	N	-0.0255035817597636	0.40703	2.421786	-0.107337978795715	0.35094	2.026264	0.0226527280151388	0.13447	0.549168	0.22868	0	0.588066	0.40923	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.04	3.04	0.34171	1.566000	0.36005	2.600000	0.33516	0.672000	0.70159	0.937000	0.32526	1.000000	0.68203	0.476000	0.28476	0.0:0.0:1.0:0.0	9.812	0.39994	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	304.33	34	chr2	112913015	.	G	A	304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=642;ExcessHet=0;FS=1.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.558;SOR=0.42	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1098	18	0	1	0
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T,IL1RN:NM_000577:exon5:c.G316A:p.A106T,IL1RN:NM_001379360:exon5:c.G268A:p.A90T,IL1RN:NM_173841:exon6:c.G379A:p.A127T,IL1RN:NM_173843:exon6:c.G268A:p.A90T,IL1RN:NM_001318914:exon7:c.G268A:p.A90T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	448759	not_provided|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|IL1RN-related_disorder|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.010101	0.013587	0.023392	0.000000	0.000000	0.003049	0.007576	0.02632	1018.33	33	chr2	113132707	.	G	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.737;DP=730;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.59;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr2	113183468	113183468	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon2:c.G1012A:p.A338T	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00181494122261	7.8e-05	.	0.0002	0	0	0	0	0.0002	0.0013	0.0002	0.0001229	19	154602	rs142771344	0.0002	0.0002	0.0002	0.0002	0.0080	0.0002	0.0002	0.0061	0.0055	0.0001	0.0003	0.0004	2.528e-05	0	0.0080	0.0001	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	7.218e-05	0	0.0010	0	0	0	0.0238	0.0002	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.003	0.13644	B	0.001	0.04355	B	0.002600	0.00901	N	2.636420	1	0.08975	N	-0.69	0.01958	N	3.0	0.09167	T	0.09	0.05917	N	0.036	0.04668	-0.9669	0.37834	T	0.008	0.02926	T	9	0.018571496	0.00405	T	0.001815	0.03115	T	0.030	0.07022	.	.	0.138757226776	0.13463	0.04444124895240298	0.04388	0.088955365628	0.10057	0.315831273794	0.12790	T	0.006082	0.05517	T	-0.620107	0.00110	T	-0.83503	0.01176	T	0.0118307167033173	0.00184	T	0.345165	0.07572	T	0.07154771	0.15849	0.041474838	0.04721	0.07154771	0.15848	0.041474838	0.04721	-4.32	0.28664	T	.	.	0.067	0.08176	B	.;.	.;.	-1.152780	0.00580	0.014	0.25920794704955197	0.01217	0.01750	0.05513	N	AEFBCI	0.018397	0.00554	N	-1.7248663453284	0.00757	0.0327028	-1.81410424900186	0.00715	0.03185843	0.99999999998961	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	-11.0	0.00133	-1.720000	0.01971	-2.975000	0.03176	-1.440000	0.01105	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2116:0.2424:0.3463:0.1997	0.934	0.01256	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.006793	0.008772	0.000000	0.025862	0.000000	0.003788	0.02632	838.33	44	chr2	113183468	.	G	A	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.456;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.206;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1099	18	0	1	0
chr2	113201396	113201396	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon17:c.G3152A:p.R1051Q	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0235273992307	0.0048	0.00159744	0.0036	0.0014	0.0025	0	0.0006	0.0055	0	0.0016	0.0035834	554	154602	rs143129434	0.0039	0.0039	0.0039	0.0039	0.0044	0.0038	0.0038	0.0043	0.0043	0.0018	0.0034	0.0051	7.557e-05	0.0006	0.0021	0.0044	0.0039	0.0016	0.0036	0.0036	0.0040	0.0031	0.0057	0.0033	0.0032	0.0047	0.0045	0.0015	0	0.0057	0.0072	0	0.0003	0	0.0051	0.0052	0.0010	0.001	0.78490	D	0.025	0.58089	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.890979	0.27882	N	1.87	0.49600	L	2.59	0.13317	T	-1.42	0.34992	N	0.355	0.44666	-1.1301	0.01777	T	0.066	0.27121	T	10	0.007448405	0.00169	T	0.023527	0.46494	T	0.181	0.45247	.	.	0.538973816733	0.53549	0.7660072783222187	0.76549	2.04250429842	0.94277	0.501843750477	0.39085	T	0.058434	0.30840	T	-0.51131	0.00493	T	-0.499989	0.22349	T	0.0214733978783514	0.00851	T	0.862614	0.58632	D	0.35550728	0.57492	0.31806865	0.57777	0.35550728	0.57492	0.31806865	0.57776	-10.126	0.75412	D	.	.	0.558	0.67136	A	.;.	.;.	5.507595	0.91651	32	0.99949942069287123	0.99938	0.89299	0.49680	D	AEFBCI	.	.	.	0.669504729249229	0.77634	6.712942	0.671620851516471	0.80229	7.252846	0.999999817714789	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.22	5.22	0.72285	3.875000	0.55821	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.272	0.82453	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1235.33	34	chr2	113201396	.	G	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.128;DP=746;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.518;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr2	113439094	113439094	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330339:exon2:c.G23A:p.R8Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00345767519119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1188.33	35	chr2	113439094	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.73;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.05;MQRankSum=1.06;QD=21.61;ReadPosRankSum=-0.184;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr2	113443854	113443854	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon3:c.G329A:p.C110Y,CBWD2:NM_001330337:exon3:c.G329A:p.C110Y,CBWD2:NM_172003:exon3:c.G329A:p.C110Y,CBWD2:NM_001330339:exon4:c.G221A:p.C74Y	.	459	1044	19	0	0	19	0.00901756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.103116682965	.	.	0.0008	0	0	0	.	0.0012	0	0	2.59e-05	4	154602	rs200145218	0.0034	0.0046	0.0034	0.0034	0.0179	0.0033	0.0033	0.0149	0.0138	0.0007	0.0032	0.0034	0	0.0076	0.0179	0.0035	0.0032	0.0021	0.0026	0.0038	0.0023	0.0030	0.0043	0.0024	0.0023	0.0034	0.0031	0.0004	0.0236	0.0043	0.0024	0	0.0071	0.0141	0.0029	0.0035	0.0009	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.26	0.98092	H	0.45	0.56446	T	-10.04	0.98852	D	0.902	0.90251	0.289	0.87380	D	0.508	0.81503	D	10	0.24361351	0.41578	T	0.103117	0.77697	D	0.614	0.84932	.	.	0.599654944907	0.59646	0.5078442566509896	0.50706	.	.	0.858874857426	0.90944	D	0.427626	0.77704	T	0.308	0.83601	D	0.204788	0.83387	D	0.890385329723358	0.54119	D	0.999058	0.99576	D	0.9396918	0.95216	0.8888412	0.94186	0.9396918	0.95217	0.8888412	0.94186	-9.262	0.69368	D	.	.	0.984	0.95995	P	.;.;.	.;.;.	5.438484	0.90909	32	0.99599616731712604	0.74101	0.95228	0.63913	D	AEFI	0.775335	0.70878	D	0.879044043988155	0.90695	10.52251	0.681370157874719	0.80966	7.417813	0.721406329907596	0.22936	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.85	2.85	0.32333	8.628000	0.90746	8.539000	0.77485	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0:0.0:1.0:0.0	11.531	0.49859	763	0.50172	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	543.33	41	chr2	113443854	.	G	A	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.892;DP=802;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.82;MQRankSum=-1.15;QD=5.38;ReadPosRankSum=-1.1;SOR=0.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	18	0	1	0
chr2	113742772	113742772	C	T	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon7:c.G652A:p.E218K,SLC35F5:NM_001330315:exon7:c.G670A:p.E224K,SLC35F5:NM_001330316:exon7:c.G670A:p.E224K,SLC35F5:NM_001330317:exon7:c.G652A:p.E218K,SLC35F5:NM_025181:exon7:c.G670A:p.E224K	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00526062414607	0.0045	0.00159744	0.0037	0.0013	0.0015	0	0.0021	0.0058	0.0033	0.0008	0.0038486	595	154602	rs150656361	0.0050	0.0050	0.0050	0.0051	0.0060	0.0049	0.0049	0.0059	0.0059	0.0008	0.0016	0.0005	0	0.0025	0.0047	0.0060	0.0042	0.0009	0.0036	0.0036	0.0038	0.0034	0.0067	0.0034	0.0033	0.0062	0.0060	0.0011	0	0.0014	0.0006	0	0.0016	0	0.0067	0.0028	0.0006	0.637	0.17940	T	0.383	0.19246	T	0.021	0.20480	B	0.038	0.23361	B	0.006726	0.31837	N	0.357944	0.994698	0.42380	D	-0.345	0.03330	N	0.92	0.44461	T	-0.47	0.15178	N	0.583	0.60410	-1.0398	0.17374	T	0.040	0.17234	T	10	0.0055446923	0.00122	T	0.005261	0.13433	T	0.066	0.19193	.	.	0.42130639912	0.41750	0.5381613818164451	0.53741	0.174014622126	0.19591	0.506434679031	0.39724	T	0.010092	0.09137	T	-0.516214	0.00463	T	-0.507743	0.21548	T	0.0153049123563055	0.00339	T	0.948805	0.82551	D	0.1245969	0.29230	0.117520146	0.28370	0.1245969	0.29230	0.117520146	0.28370	-4.883	0.35543	T	.	.	0.179	0.58611	B	.;.;.	.;.;.	3.166865	0.42928	21.6	0.98164123056445352	0.38797	0.99545	0.97286	D	AEFGBI	0.825321	0.74504	D	-0.0325763100122963	0.40383	2.397311	0.176349605014107	0.48553	3.06979	0.999972730028718	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	7.019000	0.76152	3.960000	0.40741	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8492:0.1508:0.0	14.052	0.64267	741	0.52966	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1449.33	33	chr2	113742772	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.181;SOR=0.64	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr2	119263325	119263325	C	T	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon5:c.C1454T:p.T485M,STEAP3:NM_018234:exon6:c.C1454T:p.T485M,STEAP3:NM_182915:exon6:c.C1484T:p.T495M	.	413	1096	13	0	0	13	0.00589569	.	.	.	3803973	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	7.7e-05	0.0175719	0.0106	0.0001	0.0007	0	0	3.711e-05	0.0085	0.0701	0.0076713	1186	154602	rs141086904	0.0037	0.0037	0.0021	0.0053	0.0596	0.0036	0.0036	0.0583	0.0577	0.0002	4.494e-05	0	5.043e-05	0	0.0014	3.059e-05	0.0039	0.0596	0.0022	0.0022	0.0014	0.0031	0.0666	0.0020	0.0019	0.0606	0.0582	0.0002	0	6.546e-05	0	0.0004	0	0	1.471e-05	0.0014	0.0666	0.183	0.21718	T	0.012	0.63918	D	0.997	0.70673	D	0.784	0.57456	P	0.004593	0.33588	N	0.246616	1	0.81001	D	2.215	0.62545	M	3.11	0.08194	T	-0.34	0.12661	N	0.239	0.27077	-1.1777	0.00404	T	0.038	0.16203	T	9	0.0023077726	0.00034	T	.	.	.	0.121	0.33580	.	.	0.381239546501	0.37731	0.4382685838113282	0.43743	0.656627174343	0.58652	0.337816208601	0.16111	T	0.045491	0.27138	T	-0.476182	0.00779	T	-0.410442	0.32175	T	0.0282693833428354	0.01728	T	0.838216	0.51127	T	0.030691225	0.02777	0.04746581	0.06844	0.02951852	0.02460	0.04746581	0.06843	-4.83	0.36436	T	.	.	0.109	0.20780	B	.;.;.	.;.;.	3.490302	0.48778	22.7	0.99507748147826458	0.68440	0.62894	0.31921	D	AEFDBI	0.406900	0.47920	N	0.217874491831188	0.52066	3.383194	0.157484541678619	0.47541	2.982691	0.999998687254177	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	2.198000	0.42339	4.870000	0.45558	0.599000	0.40250	0.785000	0.29533	1.000000	0.68203	0.110000	0.18741	0.0:0.9129:0.0:0.0871	10.632	0.44732	938	0.14419	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.030303	0.02632	335.33	34	chr2	119263325	.	C	T	335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=603;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.03;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr2	119452057	119452057	C	T	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon9:c.G874A:p.A292T	.	431	1070	20	1	0	22	0.0101758	.	.	.	719210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.00774449728477	0.0038	0.00119808	0.0048	0.0007	0.0064	0	0.0011	0.0065	0.0059	0.0032	0.0038874	601	154602	rs140893531	0.0041	0.0041	0.0040	0.0041	0.0262	0.0040	0.0040	0.0228	0.0215	0.0010	0.0032	0.0072	0	0.0005	0.0262	0.0043	0.0048	0.0034	0.0038	0.0038	0.0042	0.0033	0.0052	0.0035	0.0034	0.0047	0.0046	0.0008	0.0680	0.0045	0.0058	0	0.0004	0.0306	0.0052	0.0057	0.0029	0.839	0.02818	T	0.547	0.09522	T	0.001	0.07471	B	0.009	0.14300	B	0.134378	0.18519	N	0.487155	1	0.08975	N	0.04	0.08086	N	1.16	0.38073	T	0.55	0.02721	N	0.307	0.34659	-1.0075	0.27696	T	0.029	0.12585	T	10	0.0034151971	0.00060	T	0.007744	0.20536	T	0.038	0.09825	.	.	0.316788114976	0.31282	0.174988369672844	0.17417	0.092802932358	0.10482	0.265227228403	0.05529	T	0.065123	0.32609	T	-0.638099	0.00085	T	-0.687857	0.06513	T	0.000873557410316044	0.00008	T	0.179182	0.01770	T	0.023302292	0.01059	0.03663332	0.03149	0.023302292	0.01059	0.03663332	0.03148	-4.812	0.34731	T	.	.	0.063	0.01491	B	.	.	0.555117	0.09238	6.019	0.6138686733643739	0.06696	0.12907	0.17550	N	AEFBCI	0.130667	0.24931	N	-1.276428183442	0.03961	0.1779107	-1.20324611166479	0.05858	0.2802926	0.0325168889516921	0.14058	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.42	0.21524	-0.029000	0.12278	-1.436000	0.05444	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.6734:0.1212:0.2054	8.701	0.33484	939	0.14249	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019637	0.000000	0.017663	0.040936	0.050000	0.034483	0.024390	0.000000	0.02632	1028.33	33	chr2	119452057	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.27;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	18	0	1	0
chr2	119681416	119681416	A	G	exonic	TMEM177	.	nonsynonymous SNV	TMEM177:NM_001105198:exon2:c.A563G:p.K188R,TMEM177:NM_001105199:exon2:c.A563G:p.K188R,TMEM177:NM_030577:exon2:c.A563G:p.K188R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0312119814058	.	.	1.656e-05	0	8.663e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs748992087	8.894e-06	8.893e-06	8.169e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0.0002	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.06	0.45744	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	2.93	0.84523	M	0.67	0.52187	T	-0.94	0.25118	N	0.55	0.57604	-0.4570	0.70168	T	0.289	0.66065	T	10	0.7250259	0.73916	D	0.031212	0.53345	D	0.332	0.65424	0.684	0.82175	0.478068462777	0.47436	0.4432242420443288	0.44240	0.191067036934	0.21425	0.723685443401	0.70584	T	0.09001	0.38494	T	-0.134704	0.30738	T	-0.205567	0.54117	T	0.358111935549107	0.27335	T	0.568943	0.20238	T	0.123382	0.28974	0.12228351	0.29499	0.123382	0.28974	0.12228351	0.29498	-3.197	0.12444	T	.	.	0.095	0.15115	B	.;.;.	.;.;.	3.739344	0.53540	23.4	0.99818909756807939	0.90238	0.97220	0.73400	D	AEFDBCI	0.896147	0.83692	D	0.610542781233267	0.73841	6.032406	0.502284022824778	0.68143	5.179738	0.999999999840116	0.74766	0.706548	0.73137	0	0.71359	0.82159	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	8.322000	0.89915	10.386000	0.83314	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	1.0:0.0:0.0:0.0	12.051	0.52806	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	46	chr2	119681416	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=1832;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.818;SOR=0.479	GT:AD:DP:GQ:PL	0/1:57,28:85:99:737,0,1719	18	0	1	0
chr2	120222370	120222370	C	T	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.G607A:p.V203I	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0063	0	0	0	0	0.0003	0	0.0102	0.0005692	88	154602	rs551008780	0.0006	0.0006	0.0003	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	3.165e-05	0	0	2.798e-05	0	0.0014	5.005e-05	0.0007	0.0094	0.0003	0.0003	0.0002	0.0004	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0.0002	0	0	0	0	0.0101	0.71	0.04044	T	0.501	0.11153	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.997567	0.22606	N	-1.995	0.00197	N	1.97	0.22067	T	0.19	0.04947	N	0.037	0.01135	.	.	.	.	.	.	.	0.004203975	0.00084	T	.	.	.	.	.	.	.	0.537262924806	0.53376	0.3218051688916848	0.32093	0.187302612443	0.21046	0.550898313522	0.45984	T	0.001997	0.01403	T	-0.656454	0.00066	T	-0.708621	0.05366	T	.	.	.	0.605739	0.22785	T	0.024513133	0.01291	0.034353644	0.02486	0.024513133	0.01291	0.034353644	0.02486	-4.439	0.30082	T	.	.	0.079	0.07318	B	.	.	2.512071	0.32444	19.04	0.95413741429505683	0.26883	0.76041	0.37265	D	AEFDGBCI	0.184390	0.31171	N	.	.	.	.	.	.	0.999999768463324	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.99	3.12	0.34986	4.602000	0.60805	.	.	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.0:0.7844:0.0:0.2156	6.308	0.20358	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000888	0.000000	0.000000	0.000000	0.000000	0.000000	0.004854	0.000000	0.05263	5335.83	33	chr2	120222370	.	C	T	5335.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.96;DP=991;ExcessHet=0.119;FS=1.112;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.739;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1038	17	0	2	0
chr2	120984646	120984646	C	T	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon11:c.C1433T:p.T478M,GLI2:NM_001371271:exon12:c.C1859T:p.T620M,GLI2:NM_001374353:exon12:c.C1808T:p.T603M,GLI2:NM_005270:exon12:c.C1859T:p.T620M	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	223606	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_specified|not_provided|Anophthalmia-microphthalmia_syndrome|Bardet-Biedl_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:CN169374|MedGen:C3661900|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.0008	0.00219649	0.0026	0.0004	0.0003	0.0001	0	0.0019	0.0045	0.0107	0.0023738	367	154602	rs142775128	0.0021	0.0021	0.0018	0.0024	0.0104	0.0020	0.0020	0.0098	0.0096	0.0001	0.0005	0.0037	5.038e-05	0.0002	0.0055	0.0016	0.0026	0.0104	0.0013	0.0013	0.0012	0.0014	0.0089	0.0011	0.0011	0.0068	0.0060	0.0004	0	0.0006	0.0035	0.0004	9.411e-05	0.0068	0.0016	0.0014	0.0089	0.122	0.27663	T	0.037	0.51737	D	0.832	0.46138	P	0.226	0.38054	B	0.515791	0.11796	N	0.806041	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-1.5	0.36586	N	0.185	0.20129	-1.0557	0.12855	T	0.031	0.13504	T	10	0.00654158	0.00148	T	.	.	.	0.062	0.17934	.	.	0.339440827056	0.33553	0.23877867945309053	0.23791	0.465526152677	0.45986	0.310651242733	0.12005	T	0.441684	0.78613	T	-0.588781	0.00170	T	-0.609125	0.12055	T	0.00664244789238777	0.00074	T	0.612939	0.23352	T	0.03308176	0.03456	0.04148887	0.04728	0.036132056	0.04387	0.037408102	0.03388	-4.641	0.32683	T	.	.	0.082	0.08948	B	.;.	.;.	1.907197	0.24225	16.32	0.92458925033073125	0.21885	0.20783	0.21167	N	AEFDBI	0.278556	0.39281	N	-0.546217494471762	0.20602	1.087282	-0.623952830292463	0.18879	1.010464	0.999553440065076	0.40362	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.9	3.08	0.34576	2.217000	0.42521	.	.	0.599000	0.40250	0.005000	0.17040	0.138000	0.23065	0.000000	0.00833	0.0:0.7701:0.1528:0.0771	9.809	0.39978	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	2297.33	34	chr2	120984646	.	C	T	2297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=769;ExcessHet=0;FS=3.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-1.172;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	18	0	1	0
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013171	0.030612	0.005450	0.032164	0.000000	0.008621	0.009317	0.003817	0.02632	1055.33	35	chr2	121736754	.	T	C	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.108;DP=736;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.988;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr2	127201203	127201203	C	T	exonic	CYP27C1	.	nonsynonymous SNV	CYP27C1:NM_001001665:exon3:c.G307A:p.A103T,CYP27C1:NM_001367501:exon3:c.G307A:p.A103T,CYP27C1:NM_001367502:exon4:c.G802A:p.A268T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0198656517909	.	.	7.414e-05	0	0	0	0	0.0001	0	6.056e-05	7.12e-05	11	154602	rs777423171	7.32e-05	7.319e-05	7.215e-05	7.426e-05	0.0003	6.181e-05	5.741e-05	7.398e-05	6.797e-05	2.987e-05	0	0	0	1.873e-05	0.0003	8.813e-05	6.623e-05	1.159e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.252	0.17014	T	0.211	0.26631	T	0.977	0.58535	D	0.782	0.57384	P	0.000000	0.84330	D	0.000000	0.953982	0.37856	D	1.495	0.37439	L	-0.36	0.68754	T	-1.25	0.31576	N	0.624	0.63968	-0.8301	0.53295	T	0.216	0.57784	T	10	0.6363391	0.68803	D	0.019866	0.42339	T	0.382	0.69946	0.536	0.64585	0.309839678437	0.30585	0.6908360899042536	0.69023	0.888851575013	0.70127	0.481665015221	0.36287	T	0.07409	0.34855	T	-0.147019	0.28781	T	-0.257276	0.49095	T	0.528285026550293	0.33671	D	0.824018	0.48536	T	0.1674595	0.37144	0.26488397	0.52314	0.1674595	0.37143	0.26488397	0.52313	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	2.664204	0.34721	19.70	0.99644548459764448	0.76881	0.87993	0.47732	D	AEFBI	0.363563	0.45241	N	-0.218826552846375	0.32360	1.824237	-0.282271741995873	0.28681	1.601086	0.911165820276688	0.26359	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.04	2.16	0.26663	3.810000	0.55318	0.020000	0.13575	-0.285000	0.06363	0.998000	0.41325	0.013000	0.20296	0.900000	0.43643	0.1661:0.7478:0.0:0.0861	8.040	0.29677	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2822.33	202	chr2	127201203	.	C	T	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=904;ExcessHet=0;FS=4.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.835;SOR=0.982	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	127584147	127584147	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon13:c.G1369A:p.A457T	.	69	1438	11	4	0	19	0.00656304	.	.	.	3202601	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.496	0.0317086460166	0.0018	0.00159744	0.0022	0.0001	0.0013	0	0	0.0031	0.0061	0.0022	0.0018887	292	154602	rs144080203	0.0017	0.0017	0.0017	0.0017	0.0031	0.0017	0.0016	0.0020	0.0017	0.0004	0.0018	0.0218	2.52e-05	1.873e-05	0.0031	0.0013	0.0029	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0020	0.0017	0.0005	0	0.0026	0.0176	0	0	0.0034	0.0017	0.0028	0.0027	0.001	0.78490	D	0.032	0.53426	D	1.0	0.90584	D	0.94	0.67560	D	0.000004	0.62929	D	0.061331	0.999991	0.58761	D	1.61	0.41143	L	-0.68	0.72568	T	-3.55	0.68764	D	0.522	0.55799	-0.5336	0.67405	T	0.290	0.66192	T	10	0.02222094	0.00549	T	0.031709	0.53723	D	0.496	0.78100	.	.	0.59231078066	0.58908	0.6648139025092835	0.66418	0.442165834421	0.44191	0.640366315842	0.58616	T	0.289652	0.66244	T	-0.267179	0.12074	T	-0.163036	0.58077	T	0.0428284704889194	0.04207	T	0.968903	0.88767	D	0.6082532	0.73134	0.7391139	0.84579	0.6082532	0.73135	0.7391139	0.84580	-5.852	0.45025	T	.	.	0.203	0.44527	B	.;.	.;.	4.486115	0.70031	25.5	0.999317423056444	0.99387	0.96279	0.68366	D	AEFDBI	0.780081	0.71209	D	0.403351340995426	0.61608	4.364042	0.348958207713784	0.58444	4.014998	0.997130512780973	0.35307	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	2.9	0.32809	6.792000	0.74912	11.684000	0.94262	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.1508:0.0:0.8492:0.0	11.101	0.47397	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1759.33	34	chr2	127584147	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=769;ExcessHet=0;FS=3.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.362;SOR=0.418	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr2	127584202	127584202	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon13:c.A1424G:p.E475G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	0.10732360849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.56640	D	0.999	0.77913	D	0.978	0.74104	D	0.000188	0.48115	D	0.144593	0.999981	0.54805	D	3.445	0.92174	M	-1.01	0.76168	T	-5.4	0.85103	D	0.653	0.66358	0.744	0.93722	D	0.734	0.90905	D	10	0.90357494	0.89721	D	0.107324	0.78335	D	0.824	0.94390	0.761	0.88972	0.94079720839	0.94018	0.6429946623745841	0.64234	0.48238453677	0.47196	0.453015327454	0.32355	T	0.563075	0.85408	D	0.208094	0.74651	D	0.0611368	0.74321	D	0.996837973594666	0.90180	D	0.933807	0.75196	D	0.82847315	0.85797	0.87348205	0.93107	0.82847315	0.85798	0.87348205	0.93107	-8.407	0.63811	D	.	.	0.157	0.34819	B	.;.	.;.	4.496166	0.70279	25.5	0.99925808102488467	0.99042	0.98568	0.84190	D	AEFDBI	0.955264	0.97297	D	0.966126932003136	0.94603	12.88902	0.858461216109364	0.93500	12.08445	0.99999999619017	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	4.7	0.58776	9.260000	0.94752	11.076000	0.85665	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.612	0.68119	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1703.33	34	chr2	127584202	.	A	G	1703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.087;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.354;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr2	127590174	127590174	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon16:c.A1937G:p.N646S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0269645229081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.02274	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.671191	0.06037	N	1.167850	1	0.08975	N	-0.665	0.02058	N	-2.08	0.86010	D	0.84	0.01761	N	0.05	0.02179	-0.6824	0.61261	T	0.244	0.61319	T	10	0.022657692	0.00571	T	0.026965	0.49829	D	0.223	0.52023	0.343	0.33626	0.186928172975	0.18263	0.22733391698649666	0.22648	0.0652916421919	0.07291	0.251021236181	0.03876	T	0.052491	0.29175	T	-0.227195	0.17020	T	-0.564126	0.15992	T	0.9481001496315	0.62821	D	0.857714	0.54741	D	0.04073073	0.05870	0.036532417	0.03119	0.04073073	0.05869	0.036532417	0.03119	-1.692	0.02208	T	.	.	0.057	0.00543	B	.;.	.;.	-0.081766	0.03751	0.779	0.42021263251809748	0.03070	0.04854	0.10589	N	AEFDBI	0.126084	0.24287	N	-1.44255579062194	0.02276	0.1003282	-1.39353947473681	0.03320	0.1546485	0.999448599506702	0.39736	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.39	-6.41	0.01766	-0.977000	0.03892	0.006000	0.13366	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.2389:0.2245:0.5366:0.0	10.998	0.46800	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1200.33	33	chr2	127590174	.	A	G	1200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=732;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.776;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr2	127620434	127620434	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon26:c.G3415A:p.G1139S	.	.	.	.	.	.	.	.	.	.	.	3206935	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.761	.	0.0025	0.00259585	0.0010	0.0109	0.0005	0	0	6.114e-05	0	6.428e-05	0.0008991	139	154602	rs199900811	0.0003	0.0003	0.0004	0.0003	0.0108	0.0003	0.0003	0.0099	0.0095	0.0108	0.0007	0	0	5.636e-05	0.0009	3.071e-05	0.0009	4.67e-05	0.0032	0.0032	0.0031	0.0032	0.0106	0.0029	0.0028	0.0098	0.0095	0.0106	0	0.0018	0	0	0	0	5.883e-05	0.0038	0	0.098	0.30800	T	0.168	0.30631	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-2.84	0.91305	D	-5.65	0.86988	D	0.811	0.80669	0.393	0.88997	D	0.719	0.90368	D	10	0.015123755	0.00318	T	.	.	.	0.761	0.91879	.	.	0.864806235569	0.86349	0.6878761299856756	0.68727	0.415926434887	0.42235	0.725630760193	0.70869	T	0.250687	0.62082	T	-0.0790588	0.39869	T	0.124049	0.78502	D	0.0582590248090995	0.06892	T	0.967003	0.87984	D	0.65402657	0.75579	0.66022193	0.80093	0.65402657	0.75580	0.66022193	0.80094	-6.535	0.50556	T	.	.	0.245	0.48103	B	.;.	.;.	5.112594	0.85479	28.6	0.99868702467244774	0.94637	0.97798	0.77211	D	AEFDBI	0.953517	0.96987	D	0.608113122335976	0.73686	6.007019	0.582933204999272	0.73718	6.01635	0.999999999999908	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	9.410000	0.96665	11.711000	0.94653	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.049	0.86387	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	527.33	46	chr2	127620434	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=3.31;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	127627281	127627281	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon32:c.C4353A:p.F1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.158242407878	.	.	3.637e-05	0	0	0	0	3.269e-05	0.0012	6.745e-05	2.59e-05	4	154602	rs781673276	2.327e-05	2.326e-05	2.043e-05	2.615e-05	0.0016	1.675e-05	1.478e-05	0.0008	0.0006	0	2.239e-05	0	0	0	0.0016	1.529e-05	9.942e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.991	0.64070	D	0.783	0.57419	P	0.000001	0.84330	D	0.056827	0.99431	0.42237	D	3.185	0.88900	M	-3.45	0.94469	D	-5.19	0.87063	D	0.768	0.80572	-0.6721	0.61733	T	0.270	0.64193	T	10	0.8125786	0.80527	D	0.158242	0.83867	D	0.748	0.91328	0.677	0.81496	0.833988851327	0.83241	0.8257265811233876	0.82530	0.477184100314	0.46833	0.623649001122	0.56245	T	0.025091	0.49651	T	0.0821453	0.62290	D	0.0365854	0.72705	D	0.81680953502655	0.47536	D	0.960504	0.85148	D	0.6955315	0.77812	0.5418114	0.73518	0.6955315	0.77814	0.5418114	0.73519	-12.182	0.85726	D	.	.	0.917	0.83999	P	.;.;.	.;.;.	3.437734	0.47809	22.5	0.99866745642968513	0.94457	0.94118	0.60166	D	AEFDBI	0.660338	0.63094	D	0.1422813616026	0.48447	3.056862	0.139020688579472	0.46563	2.90029	0.997657519498631	0.35867	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.78	3.9	0.44240	1.305000	0.33098	0.378000	0.17749	0.596000	0.33519	1.000000	0.71638	0.264000	0.24003	0.974000	0.55675	0.0:0.7559:0.0:0.2441	8.050	0.29734	946	0.12043	FERM domain;FERM domain;FERM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1002.33	33	chr2	127627281	.	C	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.999;DP=693;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.837;SOR=0.474	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	127632260	127632260	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon38:c.G5186A:p.R1729Q	.	151	1351	19	1	0	21	0.00771208	.	.	.	2812301	not_provided|MYO7B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.440	0.187200906884	0.0033	0.00199681	0.0054	0.0015	0.0027	0	0.0018	0.0085	0.0053	0.0017	0.0047994	742	154602	rs190699169	0.0066	0.0066	0.0067	0.0065	0.0077	0.0065	0.0065	0.0076	0.0075	0.0012	0.0049	0.0096	0	0.0010	0.0061	0.0077	0.0056	0.0016	0.0043	0.0043	0.0046	0.0040	0.0064	0.0040	0.0039	0.0059	0.0057	0.0016	0.0088	0.0052	0.0121	0	0.0005	0.0068	0.0064	0.0057	0.0004	0.005	0.63226	D	0.032	0.53426	D	0.798	0.44840	P	0.173	0.35463	B	0.003113	0.35419	N	0.235061	0.85526	0.38633	D	2.07	0.56829	M	-3.11	0.92721	D	-2.94	0.61435	D	0.499	0.53445	0.432	0.89566	D	0.626	0.86846	D	10	0.010098875	0.00226	T	0.187201	0.85924	D	0.440	0.74377	.	.	0.705268275649	0.70270	0.25544587263230817	0.25458	0.477577091457	0.46870	0.379588216543	0.22199	T	0.265597	0.86471	T	-0.291825	0.09455	T	-0.187117	0.55861	T	0.0249095812512221	0.01261	T	0.960204	0.88252	D	0.47223198	0.65427	0.26433262	0.52251	0.47223198	0.65428	0.26433262	0.52250	-7.162	0.55208	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	4.540858	0.71374	25.7	0.99904668835716104	0.97576	0.62386	0.31766	D	AEFDBCI	0.361771	0.45127	N	0.232212449699079	0.52766	3.448751	0.260344191376282	0.53239	3.493936	0.999974361142931	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.74	4.74	0.59717	3.386000	0.52232	8.660000	0.77968	0.614000	0.49286	0.995000	0.38783	1.000000	0.68203	0.902000	0.43815	0.1827:0.0:0.8173:0.0	8.511	0.32376	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.002717	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	910.33	39	chr2	127632260	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=700;ExcessHet=0;FS=2.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.221;SOR=0.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1176	18	0	1	0
chr2	127635740	127635740	C	T	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon43:c.C5761T:p.R1921C	.	420	1093	9	0	0	9	0.00410023	.	.	.	3208217	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.723	.	.	0.0061901	0.0057	0.0002	0	0	0	7.835e-05	0.0060	0.0352	0.00326	504	154602	rs376214274	0.0017	0.0017	0.0009	0.0024	0.0267	0.0016	0.0016	0.0258	0.0254	0.0002	2.296e-05	0	0	0	0.0017	6.863e-05	0.0013	0.0267	0.0009	0.0009	0.0005	0.0014	0.0284	0.0008	0.0008	0.0245	0.0230	0.0001	0	0	0	0	0	0	0	0	0.0284	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999978	0.58761	D	2.965	0.85198	M	-1.25	0.79072	T	-7.04	0.94647	D	0.638	0.71143	0.453	0.89882	D	0.655	0.88008	D	10	0.014722198	0.00309	T	.	.	.	0.723	0.90235	.	.	0.901322659266	0.90034	0.5962163036213441	0.59551	0.518546932681	0.49708	0.696794033051	0.66681	T	0.206987	0.77226	T	-0.153265	0.27801	T	0.0273416	0.72105	D	0.175365895533775	0.18937	T	0.985868	0.98679	D	0.74615586	0.80646	0.73086077	0.84097	0.74615586	0.80647	0.73086077	0.84098	-10.462	0.76628	D	.	.	0.259	0.49383	B	.;.;.	.;.;.	5.689968	0.93051	33	0.99933388570630655	0.99488	0.89556	0.50095	D	AEFBI	0.848652	0.76547	D	0.740228777511065	0.82269	7.720655	0.676939425967568	0.80632	7.341958	0.999993485981864	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.43	4.5	0.54382	2.827000	0.47813	5.835000	0.50197	0.579000	0.29447	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.228:0.7719:0.0:0.0	14.328	0.66091	946	0.12043	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.022727	0.02632	856.33	39	chr2	127635740	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.431;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.004;SOR=0.79	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	127764615	127764615	T	C	exonic	WDR33	.	nonsynonymous SNV	WDR33:NM_001006622:exon6:c.A839G:p.Y280C	.	436	1055	29	2	0	33	0.015399	.	.	.	4020734	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	.	0.0051	0.00299521	0.0065	0.0015	0.0140	0	0.0017	0.0102	0.0037	0.0045	0.0031047	480	154602	rs62621432	0.0066	0.0065	0.0066	0.0066	0.0149	0.0065	0.0065	0.0124	0.0114	0.0015	0.0059	0.0047	0	0.0022	0.0149	0.0074	0.0063	0.0039	0.0051	0.0051	0.0054	0.0047	0.0076	0.0048	0.0047	0.0071	0.0069	0.0012	0	0.0076	0.0087	0	0.0011	0.0238	0.0076	0.0076	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.38	0.34198	N	0.599	0.61764	-0.6292	0.63605	T	0.205	0.56293	T	8	0.00841099	0.00191	T	.	.	.	0.098	0.28162	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.391012	0.02650	T	-0.328747	0.41609	T	0.0715279357274032	0.08864	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.108	0.20469	B	.	.	2.362505	0.30306	18.40	0.99746070043336688	0.83852	0.94541	0.61500	D	AEFBI	0.626769	0.60947	D	0.636090970056344	0.75470	6.311802	0.640669472655033	0.77917	6.772694	0.999993581770831	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.203000	0.50777	2.942000	0.35671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.549	0.67639	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010237	0.020202	0.010324	0.012579	0.000000	0.000000	0.013072	0.012097	0.02632	1441.33	33	chr2	127764615	.	T	C	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=747;ExcessHet=0;FS=3.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.968;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr2	127955216	127955216	G	A	exonic	SAP130	.	nonsynonymous SNV	SAP130:NM_001330300:exon15:c.C2084T:p.P695L,SAP130:NM_001330303:exon15:c.C2087T:p.P696L,SAP130:NM_024545:exon15:c.C2165T:p.P722L,SAP130:NM_001145928:exon16:c.C2270T:p.P757L,SAP130:NM_001330299:exon16:c.C2189T:p.P730L,SAP130:NM_001330301:exon16:c.C2192T:p.P731L,SAP130:NM_001330302:exon16:c.C2189T:p.P730L	.	.	.	.	.	.	.	.	.	.	.	2325496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0051380726183	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs199999073	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	2.519e-05	0	0	2.698e-06	0	0	3.287e-05	3.284e-05	0	6.729e-05	9.657e-05	1.261e-05	7.98e-06	3.25e-05	1.915e-05	9.657e-05	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.063	0.49390	T	0.487	0.36886	P	0.087	0.29615	B	0.003574	0.34767	N	0.316225	0.990995	0.41283	D	0.695	0.17993	N	.	.	.	-1.22	0.33401	N	0.356	0.40765	-1.0289	0.20811	T	0.091	0.34737	T	9	0.17447358	0.32327	T	0.005138	0.13063	T	0.041	0.10877	0.243	0.17677	0.0675242888579	0.06100	0.1328156232275818	0.13205	0.450744263737	0.44841	0.524847626686	0.42308	T	0.037771	0.24597	T	-0.214522	0.18747	T	-0.376794	0.36096	T	0.524108171463013	0.33517	D	0.928407	0.73561	D	0.06842849	0.14907	0.07025677	0.14906	0.06842849	0.14907	0.07025677	0.14905	-4.563	0.31831	T	.	.	0.087	0.11797	B	.;.;.;.	.;.;.;.	4.691399	0.75173	26.3	0.98140191875863669	0.38597	0.96479	0.69344	D	AEFBI	0.539305	0.55633	D	-0.0561010920494246	0.39331	2.31759	0.0932116267891038	0.44206	2.706887	0.960749127832963	0.28509	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	6.459000	0.73429	9.755000	0.81488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.953	0.88979	553	0.71930	.;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2430.33	33	chr2	127955216	.	G	A	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.04;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.632;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	18	0	1	0
chr2	127955235	127955235	T	C	exonic	SAP130	.	nonsynonymous SNV	SAP130:NM_001330300:exon15:c.A2065G:p.T689A,SAP130:NM_001330303:exon15:c.A2068G:p.T690A,SAP130:NM_024545:exon15:c.A2146G:p.T716A,SAP130:NM_001145928:exon16:c.A2251G:p.T751A,SAP130:NM_001330299:exon16:c.A2170G:p.T724A,SAP130:NM_001330301:exon16:c.A2173G:p.T725A,SAP130:NM_001330302:exon16:c.A2170G:p.T724A	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00193474131365	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1468030444	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.297	0.30729	T	0.0	0.02946	B	0.001	0.04355	B	0.018908	0.27374	N	0.398688	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.7	0.29933	N	0.29	0.32812	-1.0370	0.18233	T	0.039	0.16892	T	9	0.060213715	0.07362	T	0.001935	0.03430	T	0.030	0.07022	0.143	0.04650	0.123314135267	0.11883	0.16701787394892922	0.16621	0.433014905397	0.43471	0.399066090584	0.24938	T	0.029289	0.21023	T	-0.219086	0.18118	T	-0.552479	0.17089	T	0.053229171132137	0.06059	T	0.645735	0.25721	T	0.043922525	0.06931	0.033848323	0.02348	0.043922525	0.06930	0.033848323	0.02348	-3.176	0.12190	T	.	.	0.061	0.01834	B	.;.;.;.	.;.;.;.	2.303816	0.29484	18.14	0.98181244351295427	0.38950	0.70837	0.34757	D	AEFBI	0.136342	0.25698	N	-0.674499282638428	0.16750	0.8561534	-0.504378832636932	0.22034	1.194804	0.00276477703658912	0.09691	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	2.21	0.27042	1.635000	0.36747	2.826000	0.34993	-0.130000	0.13190	0.984000	0.35821	1.000000	0.68203	0.995000	0.73285	0.2645:0.1656:0.0:0.5698	3.518	0.07291	553	0.71930	.;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1898.33	33	chr2	127955235	.	T	C	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.836;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=1.48;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	18	0	1	0
chr2	128145957	128145957	C	T	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon18:c.C2006T:p.A669V	.	438	1053	31	0	0	31	0.0145063	.	.	.	719238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0022	0.00539137	0.0050	0.0004	0.0019	0.0002	0.0002	0.0034	0.0077	0.0204	0.0045666	706	154602	rs145894335	0.0033	0.0033	0.0027	0.0039	0.0209	0.0032	0.0031	0.0201	0.0198	0.0003	0.0024	0.0070	0	0.0002	0.0109	0.0021	0.0040	0.0209	0.0023	0.0023	0.0023	0.0023	0.0155	0.0021	0.0021	0.0127	0.0117	0.0004	0	0.0022	0.0066	0	0.0003	0.0136	0.0029	0.0033	0.0155	0.004	0.65419	D	0.01	0.65728	D	0.892	0.49086	P	0.242	0.38699	B	0.000000	0.84330	D	0.047393	1	0.81001	D	2.81	0.81869	M	1.52	0.30669	T	-3.12	0.63782	D	0.645	0.65673	-0.9866	0.33445	T	0.122	0.42441	T	10	0.011684418	0.00254	T	.	.	.	0.245	0.55201	.	.	0.895439184812	0.89440	0.8481167545759013	0.84772	0.0697944257895	0.07817	0.720441579819	0.70111	T	0.218714	0.58152	T	-0.125224	0.32271	T	0.0455578	0.73290	D	0.0234209251446868	0.01074	T	0.938306	0.76795	D	0.4475158	0.63884	0.3700085	0.62259	0.4475158	0.63884	0.3700085	0.62258	-9.733	0.72297	D	.	.	0.304	0.53308	B	.	.	3.786032	0.54463	23.5	0.99879059546602955	0.95572	0.98365	0.82038	D	AEFBI	0.569740	0.57440	D	0.573095046566848	0.71499	5.660151	0.610219403928439	0.75680	6.353748	0.999999999999041	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	5.696000	0.67947	4.821000	0.45119	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	19.953	0.97211	352	0.85375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.006793	0.008772	0.000000	0.017241	0.012195	0.007576	0.02632	1197.33	34	chr2	128145957	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.39;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	18	0	1	0
chr2	128187557	128187557	A	G	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon40:c.A4585G:p.K1529E	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00759418280096	0.0002	0.000199681	0.0001	0	8.916e-05	0	0	0.0002	0	0	0.0001294	20	154602	rs200412844	8.277e-05	8.277e-05	7.895e-05	8.663e-05	0.0002	7.069e-05	6.618e-05	4.092e-05	3.741e-05	0	8.947e-05	0.0016	0	0	0.0002	5.216e-05	0.0002	2.319e-05	6.564e-05	6.561e-05	5.138e-05	8.055e-05	0.0001	3.513e-05	2.614e-05	2.259e-05	9.07e-06	0	0	0.0001	0.0014	0	0	0	4.41e-05	0	0	0.847	0.02760	T	0.879	0.03232	T	0.0	0.02946	B	0.0	0.01387	B	0.031596	0.25146	N	0.493324	0.993991	0.23608	N	0	0.06538	N	3.18	0.07478	T	0.01	0.06868	N	0.099	0.08088	-0.9327	0.43740	T	0.009	0.03403	T	9	0.009604424	0.00216	T	0.007594	0.20139	T	0.024	0.04979	.	.	0.410603549233	0.40672	0.1676028950349995	0.16680	0.750313055497	0.63739	0.251235663891	0.03899	T	0.014304	0.12203	T	-0.400232	0.02307	T	-0.576013	0.14902	T	0.00742033298529833	0.00086	T	0.705929	0.31637	T	0.04468123	0.07183	0.044833604	0.05896	0.04468123	0.07182	0.044833604	0.05896	-3.502	0.16459	T	.	.	0.060	0.00995	B	.	.	0.424700	0.07954	4.663	0.53521774006393885	0.04956	0.49557	0.28460	N	AEFDGBCI	0.100835	0.20265	N	-0.922104120212503	0.10326	0.4929151	-0.801137218458984	0.14468	0.7561011	0.999981111470203	0.51787	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.65	-0.698	0.10713	0.279000	0.18532	0.617000	0.20091	-0.156000	0.11795	0.985000	0.35982	0.960000	0.29291	0.743000	0.35541	0.315:0.2816:0.4034:0.0	6.787	0.22864	443	0.79878	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	4162.33	329	chr2	128187557	.	A	G	4162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1051;ExcessHet=0;FS=4.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.711;SOR=0.814	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr2	128268254	128268254	G	A	exonic	HS6ST1	.	nonsynonymous SNV	HS6ST1:NM_004807:exon2:c.C1144T:p.R382W	.	2	1501	17	2	0	21	0.00694674	.	.	.	178326	Hypogonadotropic_hypogonadism_15_with_or_without_anosmia|not_specified|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|HYPOGONADOTROPIC_HYPOGONADISM_15_WITH_OR_WITHOUT_ANOSMIA,_SUSCEPTIBILITY_TO|HS6ST1-related_disorder|not_provided	MONDO:MONDO:0013946,MedGen:C3553977,OMIM:614880,Orphanet:478|MedGen:CN169374|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|.|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.634	.	0.0005	0.00199681	0.0022	0.0007	0.0011	0.0001	0	0.0005	0	0.0123	0.0018111	280	154602	rs199538589	0.0012	0.0012	0.0009	0.0016	0.0118	0.0012	0.0011	0.0112	0.0110	0.0006	0.0008	0.0032	0.0003	0	0.0037	0.0005	0.0013	0.0118	0.0010	0.0010	0.0008	0.0012	0.0122	0.0009	0.0008	0.0097	0.0088	0.0009	0	0.0007	0.0026	0.0002	0	0.0068	0.0005	0.0005	0.0122	0.002	0.72154	D	0.002	0.79402	D	0.997	0.70673	D	0.73	0.55268	P	0.017530	0.27701	N	0.418082	0.994266	0.42219	D	2.085	0.57729	M	-1.88	0.84487	D	-2.83	0.59710	D	0.852	0.84817	0.389	0.88936	D	0.661	0.88231	D	9	0.018632412	0.00407	T	.	.	.	0.634	0.85975	.	.	0.819291598037	0.81758	0.5040630473211578	0.50328	.	.	0.839391112328	0.88003	D	0.488452	0.81409	T	-0.117225	0.33577	T	0.0682329	0.74792	D	0.0266707779836263	0.01498	T	0.938606	0.76932	D	0.19860494	0.41769	0.24489604	0.49966	0.24586004	0.47549	0.2792515	0.53891	-7.896	0.60359	D	0.3949869659013052	0.48764	0.292	0.52335	B	.	.	5.207776	0.87384	29.2	0.998532613914344	0.93279	0.96498	0.69439	D	AEFGBI	0.465561	0.51358	N	0.406920813015504	0.61803	4.386344	0.347388840391108	0.58350	4.005064	0.995860555628383	0.34373	0.609539	0.35627	0	0.633656	0.55848	0	0.493711	0.08198	1	0.635551	0.53088	0	.	.	4.48	4.48	0.53973	5.539000	0.66909	8.483000	0.77305	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0:0.0:1.0:0.0	17.538	0.87737	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006959	0.005102	0.006793	0.004167	0.000000	0.034483	0.003165	0.011538	0.02632	1539.33	34	chr2	128268254	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=797;ExcessHet=0;FS=14.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.58;MQRankSum=1.67;QD=11.75;ReadPosRankSum=1.55;SOR=0.169	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	18	0	1	0
chr2	130074621	130074621	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.G2851A:p.G951S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00108707236391	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs781580394	3.573e-05	0.0002	3.692e-05	3.453e-05	0.0006	2.775e-05	2.512e-05	0.0004	0.0003	0.0006	2.252e-05	0	0.0003	0	0	1.621e-05	3.33e-05	2.327e-05	0.0004	0.0012	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0002	0	0.0002	0.0001	0	0	0	0	0.048	0.40068	D	0.025	0.56192	D	0.004	0.12183	B	0.052	0.25551	B	.	.	.	.	0.934286	0.26974	N	3.01	0.86067	M	2.93	0.09822	T	-4.63	0.79229	D	0.358	0.39962	-1.1217	0.02227	T	0.043	0.18326	T	8	0.78999317	0.78576	D	0.001087	0.01287	T	0.152	0.39956	0.941	0.99207	0.0401082797425	0.02173	0.03490225994518632	0.03437	.	.	0.637140393257	0.58158	T	0.581961	0.86325	D	-0.183537	0.23212	T	-0.501415	0.22201	T	0.384240175975191	0.28345	T	0.774523	0.40643	T	0.24555722	0.47515	0.17024769	0.39120	0.24555722	0.47515	0.17024769	0.39119	-6.304	0.48754	T	.	.	0.272	0.50627	B	.	.	2.109745	0.26851	17.26	0.98838047364609949	0.47068	0.50287	0.28628	D	AEFI	0.284588	0.39741	N	-0.539547023982616	0.20812	1.099973	-0.693200525092323	0.17130	0.9094818	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.000000	0.08366	0.089000	0.17737	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	87	chr2	130074621	.	C	T	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=1125;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.76;MQRankSum=-0.313;QD=0.84;ReadPosRankSum=0.065;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800:.	18	0	1	0
chr2	130074756	130074756	G	A	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C2716T:p.R906W	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.011753552245	.	.	2.569e-05	0	0	0	0	4.532e-05	0	0	3.84e-05	1	26028	rs767643792	5.921e-05	0.0001	7.811e-05	4.012e-05	0.0005	4.907e-05	4.525e-05	0.0003	0.0002	0.0005	2.252e-05	0.0013	2.524e-05	0	0	2.348e-05	0.0001	0	4.464e-05	8.097e-05	5.123e-05	3.741e-05	1.811e-05	1.705e-05	1.048e-05	.	.	0	0	0	0.0014	0	0	0	1.811e-05	0	0	0.0	0.91255	D	0.018	0.59732	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.996296	0.23058	N	4.035	0.96960	H	-3.53	0.94764	D	-5.99	0.89401	D	0.358	0.39962	0.464	0.90040	D	0.890	0.96338	D	8	0.6248418	0.68183	D	0.011754	0.29684	T	0.419	0.72855	0.761	0.88972	0.224531998449	0.22054	0.26440055664724665	0.26353	.	.	0.51852196455	0.41418	T	0.568847	0.85690	D	0.117669	0.66138	D	-0.0687535	0.65715	T	0.368645254086549	0.27746	T	0.864914	0.56300	D	0.10784629	0.25500	0.22893003	0.47950	0.10784629	0.25500	0.22893003	0.47949	-10.043	0.74169	D	.	.	0.191	0.41063	B	.	.	2.601194	0.33767	19.44	0.96653118823940254	0.30596	0.12645	0.17395	N	AEFI	0.148416	0.27229	N	-0.574327537940568	0.19727	1.034722	-0.926740504173687	0.11464	0.5841918	1.09804713802342E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.151000	0.31263	.	.	-1.580000	0.00921	1.000000	0.71638	0.017000	0.20586	0.006000	0.07323	0.3273:0.0:0.3415:0.3311	1.479	0.02286	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	484.33	185	chr2	130074756	.	G	A	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=1344;ExcessHet=0;FS=24.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.59;MQRankSum=0.534;QD=10.3;ReadPosRankSum=0.64;SOR=2.225	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	130110630	130110630	A	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon7:c.T968C:p.L323P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.00601161705397	.	0.00119808	0.0005	0.0051	0.0005	0	0	0	0	0	0.0002305	6	26028	rs201878365	0.0004	0.0014	0.0004	0.0003	0.0046	0.0003	0.0003	0.0039	0.0036	0.0046	0.0002	4.554e-05	2.713e-05	0	0.0003	0.0003	0.0005	5.304e-05	0.0004	0.0009	0.0004	0.0005	0.0024	0.0003	0.0003	0.0018	0.0016	0.0024	0	0	0	0	0	0	1.915e-05	0.0008	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.636690	0.10636	U	0.705821	0.99454	0.23497	N	3.44	0.92123	M	-0.45	0.69896	T	-1.19	0.30346	N	0.756	0.75466	-0.5232	0.67796	T	0.547	0.83364	D	10	0.030408233	0.01167	T	0.006012	0.15698	T	0.443	0.74588	0.462	0.53079	0.538974603628	0.53549	0.4094986619098943	0.40865	.	.	0.908264398575	0.97303	D	0.075038	0.35083	T	0.14264	0.68575	D	-0.0328833	0.68177	D	0.189734019777998	0.19828	T	0.416558	0.10945	T	0.39482892	0.60373	0.1671358	0.38576	0.39482892	0.60373	0.1671358	0.38575	-12.161	0.85627	D	.	.	0.826	0.78551	P	.;.	.;.	2.735697	0.35818	20.0	0.99494765004036023	0.67687	0.18962	0.20473	N	AEFI	0.126447	0.24339	N	0.166774480425964	0.49609	3.159374	-0.149590111319636	0.33424	1.911801	1.61241616938762E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.887	0.887	0.18335	3.685000	0.54410	.	.	0.339000	0.19733	0.983000	0.35670	0.013000	0.20296	0.009000	0.08673	1.0:0.0:0.0:0.0	4.064	0.09330	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	185.33	34	chr2	130110630	.	A	G	185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.934;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=33.47;MQRankSum=0.819;QD=9.75;ReadPosRankSum=-0.761;SOR=0.321	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,596	18	0	1	0
chr2	130120076	130120081	GCAGCT	-	exonic	POTEF	.	nonframeshift deletion	POTEF:NM_001099771:exon3:c.435_440del:p.R145_A147delinsS	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	6.089e-05	0.0006	0.0002	0	0	0	0	0	0.0001537	4	26028	rs528233858	0.0001	0.0001	0.0001	7.711e-05	0.0039	9.062e-05	8.544e-05	0.0034	0.0032	0.0039	0.0001	0	0	0	0	0	0.0002	0	0.0006	0.0009	0.0006	0.0007	0.0026	0.0005	0.0005	0.0022	0.0020	0.0026	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1454.29	33	chr2	130120075	.	GGCAGCT	G	1454.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=976;ExcessHet=0;FS=1.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.73;MQRankSum=-0.605;QD=15.15;ReadPosRankSum=1.2;SOR=0.863	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1310	18	0	1	0
chr2	130144962	130144962	G	A	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_001258307:exon1:c.C35T:p.P12L,CCDC74B:NM_207310:exon1:c.C35T:p.P12L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.216913308597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.104	0.74150	T	0.7	0.41856	P	0.133	0.34693	B	.	.	.	.	0.999064	0.29367	N	0.895	0.22405	L	1.46	0.53943	T	-3.07	0.77391	D	0.163	0.24260	-0.8830	0.49521	T	0.116	0.40964	T	9	0.3083871	0.48335	T	0.216913	0.87582	D	0.108	0.30607	0.174	0.08014	0.669371813672	0.66658	0.1865882490716326	0.18576	2.6155260816	0.98254	0.788058757782	0.80147	T	0.050106	0.28500	T	-0.05464	0.43740	T	-0.316263	0.42984	T	0.396848946809769	0.28823	T	0.867113	0.56785	D	0.08793049	0.20495	0.13174874	0.31630	0.08793049	0.20495	0.13174874	0.31629	-3.731	0.20268	T	.	.	0.142	0.47360	B	.;.;.;.;.;.	.;.;.;.;.;.	2.898908	0.38415	20.7	0.99594679839645406	0.73807	0.12662	0.17404	N	AEFDGBHCI	0.058882	0.11081	N	-0.380967934255648	0.26148	1.424819	-0.475734297876446	0.22824	1.24163	0.414971256197894	0.20244	0.660085	0.49399	0	0.662677	0.63036	0	0.673471	0.61138	0	0.444512	0.06955	0	.	.	2.22	2.22	0.27116	1.088000	0.30489	.	.	0.339000	0.19733	0.902000	0.31475	0.599000	0.25709	0.015000	0.10482	0.0:0.0:1.0:0.0	7.964	0.29248	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	745.33	44	chr2	130144962	.	G	A	745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=814;ExcessHet=0;FS=1.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.26;MQRankSum=1.18;QD=15.86;ReadPosRankSum=-0.596;SOR=1.398	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	130153842	130153842	G	C	exonic	SMPD4	.	nonsynonymous SNV	SMPD4:NM_001171083:exon14:c.C1564G:p.L522V,SMPD4:NM_017751:exon16:c.C1783G:p.L595V,SMPD4:NM_017951:exon17:c.C1870G:p.L624V	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0119729062107	.	.	8.267e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs759061621	8.21e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	5.396e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.46129	D	0.017	0.60972	D	.	.	.	.	.	.	0.013179	0.28928	N	0.342226	0.990251	0.41120	D	.	.	.	.	.	.	-1.52	0.44094	N	0.358	0.41754	-0.7905	0.55700	T	0.208	0.56771	T	9	0.25055614	0.42384	T	0.011973	0.30115	T	0.078	0.22779	.	.	0.427139414373	0.42328	0.3294470051070983	0.32857	3.09917820347	0.99381	0.450773596764	0.32050	T	0.119003	0.44023	T	-0.188878	0.22424	T	-0.327559	0.41741	T	0.296390239449918	0.24854	T	0.970303	0.89317	D	0.09081923	0.21264	0.090918116	0.21348	0.09081923	0.21264	0.090918116	0.21347	-4.4	0.29557	T	0.4678728360297895	0.54886	0.110	0.28863	B	.;.;.;.;.	.;.;.;.;.	2.261700	0.28903	17.95	0.99602943423670021	0.74338	0.88461	0.48399	D	AEFDBCI	0.447838	0.50331	N	0.0606023974084172	0.44630	2.733668	-0.0119930329957525	0.39171	2.318599	0.00167795271748688	0.08770	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	2.06	0.25932	2.041000	0.40834	.	.	-0.234000	0.07639	1.000000	0.71638	0.986000	0.30841	0.036000	0.13842	0.3339:0.0:0.6661:0.0	5.441	0.15809	982	0.03397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2234.33	34	chr2	130153842	.	G	C	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=861;ExcessHet=0;FS=3.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.83;MQRankSum=-4.311;QD=11.23;ReadPosRankSum=0.308;SOR=0.935	GT:AD:DP:GQ:PL	0/1:102,97:199:99:2248,0,2374	18	0	1	0
chr2	130182662	130182662	C	A	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_001330282:exon2:c.C206A:p.P69H,MZT2B:NM_025029:exon2:c.C206A:p.P69H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.542029862521	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404133676	1.214e-05	1.231e-05	1.552e-05	8.673e-06	3.769e-05	7.39e-06	6.05e-06	1.001e-05	5.88e-06	0	0	0	0	0	0	1.295e-05	0	3.769e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999917	0.81001	D	.	.	.	0.07	0.76168	T	-8.43	0.97580	D	0.773	0.77039	-0.4012	0.71989	T	0.305	0.67565	T	10	0.8693902	0.86198	D	0.54203	0.95740	D	0.647	0.86636	0.691	0.82843	0.35421846163	0.35036	0.7288338305181713	0.72827	3.42736044518	0.99715	0.894284784794	0.95783	D	0.374062	0.73793	T	0.216254	0.75421	D	0.0728575	0.75100	D	0.995983600616455	0.88445	D	0.90391	0.70013	D	0.89452714	0.90900	0.8461882	0.91249	0.89452714	0.90901	0.8461882	0.91250	-13.851	0.92563	D	.	.	0.985	0.96865	P	.;.;.	.;.;.	5.539626	0.91949	32	0.99678992535638822	0.79108	0.56518	0.30138	D	AEFDGBCI	0.460478	0.51064	N	0.279703047613921	0.55120	3.676391	0.277539814200694	0.54230	3.588699	0.999999973899165	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	3.76	0.42368	3.054000	0.49600	.	.	0.448000	0.21234	0.931000	0.32310	1.000000	0.68203	0.975000	0.56047	0.183:0.817:0.0:0.0	11.299	0.48530	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1437.33	33	chr2	130182662	.	C	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.771;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=-2.069;QD=13.43;ReadPosRankSum=-0.321;SOR=0.692	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1431	18	0	1	0
chr2	130339141	130339141	C	A	exonic	CCDC115	.	nonsynonymous SNV	CCDC115:NM_001321118:exon5:c.G507T:p.Q169H,CCDC115:NM_001321119:exon5:c.G498T:p.Q166H,CCDC115:NM_032357:exon5:c.G522T:p.Q174H	Congenital disorder of glycosylation, type IIo, Autosomal recessive	430	1088	4	0	0	4	0.00183486	.	.	.	2125804	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00210084697673	7.7e-05	0.000798722	0.0004	0	8.658e-05	0	0	4.507e-05	0	0.0029	0.0003687	57	154602	rs375063387	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	1.876e-05	0.0010	2.968e-05	0.0003	0.0025	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	9.696e-05	0.0022	0.0018	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0035	0.088	0.34095	T	0.192	0.28300	T	0.001	0.12183	B	0.004	0.14941	B	0.753894	0.06500	N	1.124610	1	0.19072	N	1.785	0.46417	L	1.94	0.22678	T	-1.87	0.43717	N	0.121	0.16028	-0.9875	0.33224	T	0.036	0.15640	T	10	0.0072297156	0.00164	T	0.002101	0.03882	T	0.065	0.18881	0.094	0.01195	0.273938319068	0.27005	0.2672728501604312	0.26640	0.255596257143	0.28147	0.33934545517	0.16341	T	0.120973	0.44360	T	-0.600057	0.00146	T	-0.640264	0.09650	T	0.0463063327358821	0.04839	T	0.544846	0.18617	T	0.07897821	0.18016	0.036506947	0.03110	0.07897821	0.18016	0.036506947	0.03110	-4.967	0.36479	T	.	.	0.112	0.27283	B	.;.	.;.	1.375325	0.17862	13.41	0.95886090125588952	0.28090	0.48494	0.28219	N	AEFDBIJ	0.052660	0.09420	N	-0.709043830726751	0.15767	0.7974915	-0.693640714435391	0.17119	0.9088306	0.999948644710096	0.47345	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.0	1.07	0.19399	0.554000	0.23113	.	.	0.549000	0.26987	0.991000	0.37257	0.239000	0.23838	0.210000	0.22183	0.391:0.5017:0.0:0.1073	4.555	0.11529	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	774.33	33	chr2	130339141	.	C	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.355;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.554;SOR=0.773	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	130346051	130346051	C	T	exonic	IMP4	.	nonsynonymous SNV	IMP4:NM_001320309:exon6:c.C373T:p.P125S,IMP4:NM_001371725:exon6:c.C712T:p.P238S,IMP4:NM_001371730:exon6:c.C457T:p.P153S,IMP4:NM_001371731:exon6:c.C373T:p.P125S,IMP4:NM_001320304:exon7:c.C622T:p.P208S,IMP4:NM_001320305:exon7:c.C574T:p.P192S,IMP4:NM_001320306:exon7:c.C463T:p.P155S,IMP4:NM_001320307:exon7:c.C463T:p.P155S,IMP4:NM_001320310:exon7:c.C373T:p.P125S,IMP4:NM_001320311:exon7:c.C364T:p.P122S,IMP4:NM_001371728:exon7:c.C625T:p.P209S,IMP4:NM_001371732:exon7:c.C373T:p.P125S,IMP4:NM_001371733:exon7:c.C373T:p.P125S,IMP4:NM_001371734:exon7:c.C373T:p.P125S,IMP4:NM_033416:exon7:c.C628T:p.P210S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	0.0058	0.00958466	0.0021	0.0210	0.0018	0.0002	0	0.0001	0	0	0.0020763	321	154602	rs114061533	0.0007	0.0007	0.0008	0.0005	0.0205	0.0006	0.0006	0.0192	0.0187	0.0205	0.0015	0.0010	2.519e-05	3.744e-05	0.0007	6.115e-05	0.0017	0	0.0060	0.0060	0.0061	0.0058	0.0199	0.0056	0.0055	0.0188	0.0184	0.0199	0	0.0039	0.0012	0	0	0.0034	7.349e-05	0.0043	0.0002	0.016	0.55530	D	0.017	0.61642	D	0.975	0.58077	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	1.88	0.23884	T	-7.79	0.96058	D	0.737	0.76573	-0.8721	0.50371	T	0.081	0.31972	T	10	0.009857744	0.00221	T	.	.	.	0.336	0.65816	.	.	0.451023696535	0.44722	0.7485669654971965	0.74802	0.862312818367	0.69017	0.677957177162	0.63975	T	0.250928	0.62110	T	-0.351608	0.04626	T	-0.26158	0.48666	T	0.100043258959822	0.12362	T	0.985601	0.95079	D	0.76913965	0.81996	0.71780133	0.83341	0.76913965	0.81998	0.71780133	0.83342	-8.597	0.65069	D	.	.	0.692	0.72951	P	.;.;.;.	.;.;.;.	4.583428	0.72430	25.8	0.9993191409315606	0.99439	0.98707	0.85832	D	AEFBCI	0.876626	0.80074	D	0.903930147343287	0.91952	11.15217	0.87145240158026	0.94204	12.58209	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.199000	0.77351	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	17.801	0.88496	982	0.03397	Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.030303	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3211.33	44	chr2	130346051	.	C	T	3211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.849;DP=881;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.161;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr2	130356160	130356160	G	T	exonic	PTPN18	.	nonsynonymous SNV	PTPN18:NM_001142370:exon1:c.G53T:p.R18L,PTPN18:NM_014369:exon1:c.G53T:p.R18L	.	404	1117	1	0	0	1	0.000447427	.	.	.	2392486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0029542695144	.	.	0.0045	0	0	0	0	0.0091	.	0	9.7e-05	15	154602	rs372603340	6.807e-05	0.0001	4.489e-05	9.3e-05	0.0015	5.554e-05	5.141e-05	0.0012	0.0011	0	0	0	0	0	0	4.134e-06	0.0003	0.0015	2.631e-05	2.625e-05	3.861e-05	1.345e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.263	0.91255	T	0.274	0.22084	T	0.005	0.12996	B	0.002	0.06944	B	0.572476	0.11224	N	0.674479	1	0.08975	N	1.075	0.27130	L	3.03	0.15028	T	-0.4	0.13805	N	0.107	0.15609	-0.9748	0.36170	T	0.022	0.09147	T	10	0.0066203177	0.00150	T	0.002954	0.06280	T	0.006	0.00375	0.463	0.53242	0.273503213844	0.26977	0.1747270780649372	0.17391	0.220064939331	0.24547	0.650236725807	0.60019	T	0.005437	0.04891	T	-0.477144	0.00769	T	-0.601194	0.12710	T	0.0211204341531509	0.00814	T	0.675032	0.29705	T	0.15829729	0.35620	0.1066199	0.25653	0.15829729	0.35620	0.1066199	0.25652	-5.005	0.36894	T	.	.	0.113	0.28693	B	.;.	.;.	0.904250	0.12785	9.300	0.65219115854944798	0.07711	0.24826	0.22513	N	ALL	0.042205	0.06520	N	-1.28039013476445	0.03911	0.1756172	-1.32978948808855	0.04050	0.1902261	0.999999999999663	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.58	-0.726	0.10606	0.195000	0.16960	.	.	-0.795000	0.03215	0.000000	0.06391	0.001000	0.17328	0.024000	0.12247	0.2168:0.0:0.4324:0.3509	3.286	0.06523	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	479.33	33	chr2	130356160	.	G	T	479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.714;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:78:.:.:0,78,1170:.	18	0	1	0
chr2	130463328	130463328	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.C2716T:p.R906W,POTEI:NM_001371926:exon17:c.C2782T:p.R928W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.00924961912642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419461472	0.0001	0.0001	0.0002	9.021e-05	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	4.608e-05	0.0028	2.599e-05	0	0.0002	5.474e-05	0.0003	2.381e-05	6.695e-05	0.0002	8.067e-05	4.995e-05	0.0003	1.775e-05	8.92e-06	.	.	6.772e-05	0	0.0003	0.0009	0	0	0	0	0	0	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	0.995258	0.23335	N	3.785	0.95291	H	-3.53	0.94764	D	-5.74	0.87687	D	0.257	0.29081	0.515	0.90753	D	0.891	0.96375	D	6	0.27030283	0.44561	T	0.00925	0.24296	T	0.379	0.69696	0.732	0.86547	0.575246599268	0.57192	0.15534679830196535	0.15455	.	.	0.613530874252	0.54814	T	0.553042	0.84900	D	-0.0463498	0.45000	T	-0.0142117	0.69409	D	0.415594915952879	0.29527	T	0.864914	0.56300	D	0.1584009	0.35639	0.2432071	0.49760	0.1584009	0.35638	0.2432071	0.49758	-10.494	0.76813	D	.	.	0.204	0.42962	B	.	.	3.267633	0.44713	22.0	0.99687294510434277	0.79708	0.16037	0.19201	N	AEFI	0.323385	0.42560	N	-0.25053336129287	0.31081	1.73936	-0.536842343947179	0.21156	1.14315	1.16600828321794E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	2.185000	0.42215	.	.	0.189000	0.17846	1.000000	0.71638	0.779000	0.26763	0.024000	0.12247	3.0E-4:2.0E-4:0.5045:0.4949	2.877	0.05288	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	56.39	33	chr2	130463328	.	G	A	56.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=274;ExcessHet=0;FS=0;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=25.72;MQRankSum=2.93;QD=2.97;ReadPosRankSum=-1.051;SOR=0.321	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,328	18	0	1	0
chr2	130464045	130464045	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.C1999T:p.H667Y,POTEI:NM_001371926:exon17:c.C2065T:p.H689Y	.	933	588	1	0	0	1	0.000849618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.0199681	0.0369	0.0504	0.0909	0	0	0	0.1667	0	0.0039573	103	26028	rs550511723	0.0005	0.0009	0.0006	0.0005	0.0143	0.0005	0.0005	0.0131	0.0126	0.0143	0.0017	0.0007	0	0.0001	0.0004	3.498e-05	0.0015	0.0001	0.0018	0.0083	0.0020	0.0015	0.0078	0.0012	0.0011	0.0012	0.0010	0.0017	.	0.0024	0	0	0	0	0.0078	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.75	0.45442	L	2.53	0.14038	T	-0.89	0.24026	N	0.105	0.08925	-0.9942	0.31512	T	0.029	0.12409	T	7	0.002271235	0.00033	T	.	.	.	0.016	0.02506	0.181	0.08877	.	.	0.004200482245101664	0.00394	.	.	0.732345223427	0.71849	T	0.015852	0.13217	T	-0.362922	0.03968	T	-0.759089	0.03145	T	0.00490050080736641	0.00053	T	0.250975	0.03793	T	0.16880018	0.37359	0.1442219	0.34247	0.16880018	0.37358	0.1442219	0.34246	-4.029	0.24236	T	.	.	0.100	0.17275	B	.	.	0.228792	0.06102	2.547	0.90721081935473535	0.19971	0.00736	0.03080	N	AEFI	.	.	.	-0.908224819060857	0.10649	0.5098735	-1.16115700310104	0.06569	0.3166623	1.1032823498007E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-0.184000	0.09693	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4143:0.2666:0.3191	3.197	0.06241	982	0.03397	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	574.81	19	chr2	130464045	.	G	A	574.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.151;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=0.0576;MLEAC=1;MLEAF=0.028;MQ=31.71;MQRankSum=0.837;QD=30.24;ReadPosRankSum=-1.042;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,29:.	17	0	1	1
chr2	130509011	130509011	A	0	exonic	POTEI	.	.	.	.	429	960	87	2	44	135	0.0452511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	996.22	501	chr2	130509011	.	A	*	996.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=3066;ExcessHet=0.7564;FS=4.114;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=56.3;MQRankSum=-8.752;QD=0.6;ReadPosRankSum=-3.796;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	17	0	2	0
chr2	130509017	130509017	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G219C:p.R73S,POTEI:NM_001371926:exon2:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0078305631702	.	0.000199681	5.449e-05	0	0.0002	0	0	6.73e-05	0	0	5.17e-05	8	154602	rs565163372	4.636e-05	4.572e-05	4.468e-05	4.806e-05	0.0002	3.715e-05	3.381e-05	4.35e-05	3.978e-05	3.162e-05	0	0	0	0	0.0002	5.546e-05	7.081e-05	0	2.851e-05	4.107e-05	1.391e-05	4.385e-05	6.985e-05	9.66e-06	5.49e-06	5.26e-06	1.97e-06	2.622e-05	0	6.985e-05	0	0	0	0	3.171e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	-1.27	0.79277	T	-0.83	0.22727	N	0.154	0.29544	-0.5666	0.66150	T	0.392	0.74604	T	6	0.04784739	0.04157	T	0.007831	0.20773	T	0.170	0.43303	0.268	0.21576	0.148003135375	0.14442	0.027062630361776367	0.02656	.	.	0.482457220554	0.36396	T	0.017405	0.14204	T	-0.203926	0.20240	T	-0.346686	0.39584	T	0.0406105547533618	0.03802	T	0.777622	0.41060	T	0.24995448	0.47993	0.19455664	0.43084	0.24995448	0.47993	0.19455664	0.43084	-9.231	0.69172	D	.	.	0.543	0.66506	A	.;.;.	.;.;.	1.442591	0.18626	13.84	0.94078087534524812	0.24226	0.00563	0.02562	N	AEFI	0.041189	0.06229	N	-0.684236656993075	0.16471	0.8394566	-0.941226752303721	0.11127	0.5649736	1.11275397622661E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.023000	0.13424	.	.	0.179000	0.17797	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3726.52	130	chr2	130509017	.	C	G	3726.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=2619;ExcessHet=0.3672;FS=2.539;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.91;MQRankSum=-0.355;QD=3.28;ReadPosRankSum=-0.383;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	18	0	1	0
chr2	130509017	130509017	C	0	exonic	POTEI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3726.52	130	chr2	130509017	.	C	*	3726.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.436;DP=2619;ExcessHet=0.3672;FS=2.539;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.91;MQRankSum=-0.355;QD=3.28;ReadPosRankSum=-0.383;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	17	0	2	0
chr2	130509040	130509151	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	0	exonic	POTEI	.	.	.	.	438	1014	22	0	48	70	0.0107317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2503.48	130	chr2	130509040	.	AGCACCACTTGCCCATCTTGCTCCTGAGTGTCTTCATAGTGGAGTCGTCCTGGTCTCCAGAAGTGCCCACGTTGCTCTTGCCGCTCCCCCTGCAGCAGGGGAAGCAGTGGCG	*	2503.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5;DP=2353;ExcessHet=0.3672;FS=2.702;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=53.96;MQRankSum=2.05;QD=2.32;ReadPosRankSum=-4.673;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	17	0	2	0
chr2	130509105	130509105	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G131C:p.G44A,POTEI:NM_001371926:exon2:c.G131C:p.G44A	.	445	1073	3	0	1	4	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00670092047845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172032725	6.902e-07	1.373e-06	0	1.387e-06	9.026e-07	0	0	.	.	0	0	0	0	0	0	9.026e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	-1.65	0.82625	D	-0.52	0.16187	N	0.073	0.19728	-0.7080	0.60051	T	0.346	0.71099	T	6	0.07718462	0.12150	T	0.006701	0.17699	T	0.165	0.42395	0.386	0.40624	0.0611884634855	0.05136	0.010405848084612982	0.01001	.	.	0.493091166019	0.37867	T	0.017477	0.14250	T	-0.191462	0.22043	T	-0.512799	0.21028	T	0.0550540752168022	0.06366	T	0.756024	0.38228	T	0.07629352	0.17246	0.09242864	0.21783	0.07629352	0.17245	0.09242864	0.21782	-8.85	0.66726	D	.	.	0.174	0.38043	B	.;.;.	.;.;.	2.182785	0.27823	17.59	0.85208430055464002	0.15751	0.00268	0.01460	N	AEFI	0.028725	0.02584	N	-1.2100028865274	0.04853	0.2199423	-1.43743100838247	0.02886	0.1335958	3.57838110354988E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.244000	0.08921	.	.	0.191000	0.17858	0.082000	0.22389	0.000000	0.08366	0.032000	0.13371	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	1947.8	130	chr2	130509105	.	C	G	1947.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.661;DP=1433;ExcessHet=0.119;FS=2.63;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=49.4;MQRankSum=-0.039;QD=4.42;ReadPosRankSum=-0.374;SOR=0.488	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	17	0	1	1
chr2	130509105	130509105	C	0	exonic	POTEI	.	.	.	.	445	1073	3	0	1	4	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1947.8	130	chr2	130509105	.	C	*	1947.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.661;DP=1433;ExcessHet=0.119;FS=2.63;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=49.4;MQRankSum=-0.039;QD=4.42;ReadPosRankSum=-0.374;SOR=0.488	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	17	0	1	1
chr2	130509151	130509151	G	0	exonic	POTEI	.	.	.	.	453	1059	7	0	3	10	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2962.0	130	chr2	130509151	.	G	*	2962.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1320;ExcessHet=0.119;FS=11.692;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=40.7;MQRankSum=5.08;QD=6.3;ReadPosRankSum=-1.106;SOR=0.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	18	0	1	0
chr2	130657365	130657365	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2605T:p.R869W	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.00494755541337	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753778996	2.436e-05	4.645e-05	2.773e-05	2.097e-05	9.412e-05	1.769e-05	1.566e-05	2.494e-05	1.408e-05	9.412e-05	0	0	0	1.877e-05	0	2.383e-05	5.043e-05	2.326e-05	6.881e-05	7.921e-05	6.715e-05	7.055e-05	0.0001	3.673e-05	2.83e-05	2.905e-05	1.9e-05	8.012e-05	0	0.0001	0	0	0	0	7.55e-05	0	0	0.0	0.91255	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	0.993767	0.23652	N	3.585	0.93597	H	-3.53	0.94764	D	-6.23	0.90490	D	0.433	0.47208	0.524	0.90879	D	0.892	0.96408	D	7	0.633593	0.68655	D	0.004948	0.12473	T	0.381	0.69863	0.619	0.75347	0.782959667303	0.78095	0.27008664431921553	0.26921	.	.	.	.	.	0.558508	0.85179	D	0.174883	0.71571	D	0.0134312	0.71204	D	0.794588736723283	0.45991	D	0.864914	0.56300	D	0.30595618	0.53433	0.26759586	0.52619	0.30595618	0.53433	0.26759586	0.52618	-10.046	0.74187	D	.	.	0.164	0.36214	B	.	.	2.963228	0.39466	21.0	0.99720415064130596	0.81984	0.16741	0.19528	N	AEFI	.	.	.	-0.25647436305523	0.30846	1.723829	-0.545349225353148	0.20929	1.129854	1.6014627922771E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.736	-1.47	0.08312	2.640000	0.46245	.	.	0.196000	0.17891	1.000000	0.71638	0.880000	0.27694	0.012000	0.09680	0.6188:0.3811:0.0:0.0	3.917	0.08726	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	193.33	103	chr2	130657365	.	C	T	193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=1532;ExcessHet=0;FS=8.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.54;MQRankSum=-4.116;QD=1.56;ReadPosRankSum=2.43;SOR=1.241	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr2	130657714	130657714	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2954T:p.P985L	.	74	1431	17	0	0	17	0.00590483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00319489	0.0132	0.0015	0.0078	0	0.0020	0.0050	0.0408	0.0317	0.0007684	20	26028	rs552095587	0.0015	0.0015	0.0011	0.0019	0.0128	0.0015	0.0015	0.0121	0.0119	0.0003	0.0007	0.0063	2.632e-05	6.057e-05	0.0082	0.0006	0.0020	0.0128	0.0011	0.0011	0.0011	0.0011	0.0126	0.0009	0.0009	0.0097	0.0087	0.0005	0	0.0007	0.0068	0	0	0.0037	0.0007	0.0006	0.0126	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.977524	0.39375	D	3.655	0.94224	H	2.73	0.11839	T	-8.19	0.96809	D	0.324	0.36464	-1.0053	0.28368	T	0.099	0.36882	T	7	0.012013733	0.00260	T	.	.	.	0.181	0.45247	.	.	0.462111473445	0.45839	0.02712786375202906	0.02662	.	.	.	.	.	0.598495	0.87097	D	-0.49592	0.00603	T	-0.472807	0.25214	T	0.0969079647454294	0.12013	T	0.974802	0.91047	D	0.36426046	0.58158	0.28347903	0.54341	0.36426046	0.58159	0.28347903	0.54340	-8.023	0.61227	D	.	.	0.379	0.58352	A	.	.	2.518707	0.32546	19.07	0.98912866454171977	0.48399	0.52235	0.29083	D	AEFI	.	.	.	-0.170624640995066	0.34360	1.960361	-0.423347139363444	0.24314	1.330746	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	5.537000	0.66897	.	.	0.196000	0.17891	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:0.9999:0.0:1.0E-4	6.920	0.23561	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	628.83	21	chr2	130657714	.	C	T	628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=428;ExcessHet=0.119;FS=2.373;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=35.37;MQRankSum=1.02;QD=13.38;ReadPosRankSum=-0.528;SOR=0.233	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	17	0	2	0
chr2	131218837	131218842	AGCTGC	-	exonic	POTEE	.	nonframeshift deletion	POTEE:NM_001083538:exon4:c.435_440del:p.R145_A147delinsS	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314897064	4.793e-06	6.704e-05	4.088e-06	5.506e-06	0.0002	1.99e-06	1.28e-06	7.853e-05	5.332e-05	0.0002	0	0	0	0	0	0	1.66e-05	0	3.286e-05	0.0004	5.144e-05	1.344e-05	0.0001	1.261e-05	7.98e-06	4.742e-05	3.056e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	286.29	36	chr2	131218836	.	GAGCTGC	G	286.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=1015;ExcessHet=0;FS=18.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.7;MQRankSum=-6.592;QD=0.94;ReadPosRankSum=-0.364;SOR=1.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	131228294	131228294	T	C	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon8:c.T968C:p.L323P	.	500	1021	1	0	0	1	0.000489476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.051297894719	.	.	0.0001	0.0010	0	0	0	7.336e-05	0	0	3.84e-05	1	26028	rs756509399	6.305e-05	0.0001	8.046e-05	4.546e-05	0.0023	5.237e-05	4.854e-05	0.0019	0.0017	0.0023	6.714e-05	0	0	0	0	1.799e-06	0.0002	0	0.0005	0.0008	0.0005	0.0006	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.537e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.636690	0.10636	U	0.705821	0.999993	0.23430	N	3.97	0.96570	H	-0.45	0.69896	T	-1.19	0.30346	N	0.773	0.77039	-0.6439	0.62979	T	0.452	0.78603	T	10	0.35395676	0.52191	T	0.051298	0.64601	D	0.345	0.66676	.	.	0.632812818788	0.62980	0.3628526703399157	0.36199	.	.	0.906807422638	0.97160	D	0.078594	0.35930	T	0.107627	0.65106	D	-0.0831778	0.64670	T	0.343496051579805	0.26762	T	0.416558	0.10945	T	0.40444222	0.61039	0.1740594	0.39774	0.40444222	0.61039	0.1740594	0.39774	-12.149	0.89854	D	.	.	0.920	0.84184	P	.;.;.	.;.;.	2.634349	0.34263	19.58	0.99453899453103745	0.65427	0.16849	0.19576	N	AEFI	0.129816	0.24813	N	0.0637076661703731	0.44775	2.745475	-0.214087939344784	0.31030	1.752327	1.61241616938762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	0.887	0.887	0.18335	3.235000	0.51027	.	.	0.312000	0.19173	0.980000	0.35271	0.178000	0.23398	0.037000	0.13953	0.0:0.0:0.0:1.0	4.064	0.09330	929	0.16858	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	34	chr2	131228294	.	T	C	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.62;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.44;MQRankSum=-0.227;QD=9.08;ReadPosRankSum=-1.222;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1345	18	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.013889	0.032303	0.066372	0.000000	0.053571	0.015038	0.008000	0.02632	1011.33	34	chr2	131252927	.	T	G	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.175;DP=940;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.85;MQRankSum=-0.378;QD=3.33;ReadPosRankSum=-0.403;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	131252997	131252997	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1676A:p.G559D	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0686340242042	.	.	2.015e-05	0	0	0	0.0005	0	0	0	6.5e-06	1	154602	rs201809555	2.463e-05	2.531e-05	2.996e-05	1.926e-05	0.0004	1.804e-05	1.601e-05	6.257e-05	2.582e-05	0	0	0	0	1.872e-05	0.0004	2.428e-05	4.972e-05	3.48e-05	1.32e-05	1.315e-05	1.29e-05	1.352e-05	6.556e-05	2.19e-06	8.2e-07	.	.	0	0	6.556e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.173	0.30143	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	-1.93	0.84842	D	-0.11	0.08653	N	0.081	0.05670	-0.8797	0.49786	T	0.306	0.67649	T	8	0.03947276	0.02440	T	0.068634	0.70505	D	0.157	0.40909	0.222	0.14518	0.171388866994	0.16791	0.0019335634069241809	0.00179	.	.	0.586339116096	0.50978	T	0.016866	0.13857	T	-0.29152	0.09484	T	-0.475614	0.24913	T	0.0450959080890132	0.04619	T	0.59724	0.23473	T	0.16037226	0.35973	0.19828093	0.43652	0.16037226	0.35973	0.19828093	0.43651	-7.328	0.56394	T	.	.	0.126	0.26545	B	.;.	.;.	0.864572	0.12371	8.909	0.95113844527397207	0.26204	0.00068	0.00484	N	AEFI	0.020858	0.00867	N	-1.65962233654192	0.00995	0.04314064	-1.78405808933216	0.00811	0.0362249	9.00505683457145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-1.175000	0.03211	.	.	-1.385000	0.01156	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3381.85	292	chr2	131252997	.	G	A	3381.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1341;ExcessHet=0.119;FS=1.226;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=36.1;MQRankSum=-2.366;QD=4.75;ReadPosRankSum=-0.134;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	131264570	131264570	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G3115A:p.V1039M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.181998000204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340227061	0.0008	0.0010	0.0009	0.0008	0.0013	0.0008	0.0007	0.0010	0.0009	0.0008	0.0002	5.28e-05	0.0013	0.0151	0.0003	0.0002	0.0010	0.0008	0.0012	0.0017	0.0008	0.0016	0.0026	0.0010	0.0010	0.0015	0.0012	0.0003	0	0	0	0.0026	0.0139	0	0.0003	0.0006	0.0015	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.86	0.61233	P	.	.	.	.	1	0.81001	D	4.845	0.99712	H	-3.6	0.95009	D	-2.22	0.49846	N	0.388	0.42931	0.818	0.94630	D	0.927	0.97604	D	8	0.03802854	0.02194	T	0.181998	0.85592	D	0.471	0.76487	0.772	0.89846	0.844756491308	0.84327	0.015369438433464408	0.01492	.	.	0.689803123474	0.65678	T	0.742892	0.92893	D	-0.17937	0.23830	T	-0.0312678	0.68284	D	0.17251884542116	0.18750	T	0.865513	0.56452	D	0.23717295	0.46577	0.2602486	0.51786	0.23717295	0.46577	0.2602486	0.51785	-10.918	0.79207	D	.	.	0.403	0.59716	A	.	.	3.087079	0.41550	21.4	0.99526757873198946	0.69591	0.63594	0.32138	D	AEFI	0.343255	0.43913	N	0.346296523023586	0.58544	4.027296	0.0171496876502731	0.40511	2.418871	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.993000	0.31925	0.563000	0.30483	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	153.35	6	chr2	131264570	.	G	A	153.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=235;ExcessHet=0;FS=6.99;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=26.82;MQRankSum=-0.963;QD=10.22;ReadPosRankSum=-0.793;SOR=0.048	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,326	18	0	1	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N	.	420	1099	3	0	0	3	0.00136302	.	.	.	707721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008466	0.005051	0.020380	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1633.33	37	chr2	131479422	.	T	A	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.256;DP=791;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.1;MQRankSum=2.91;QD=9.84;ReadPosRankSum=0.773;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	18	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.02632	564.45	36	chr2	131480177	.	G	A	564.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.45;DP=2530;ExcessHet=0;FS=85.338;InbreedingCoeff=-0.0342;MLEAC=1;MLEAF=0.026;MQ=52.3;MQRankSum=-6.65;QD=2.34;ReadPosRankSum=-1.774;SOR=4.433	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	18	0	1	0
chr2	131491965	131491965	T	G	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon2:c.A230C:p.K77T	.	0	225	1	0	0	1	0.00221729	.	.	.	4037301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0296356961217	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759614565	4.649e-05	4.652e-05	3.676e-05	5.646e-05	0.0002	3.738e-05	3.406e-05	3.004e-05	2.669e-05	0	2.733e-05	0.0006	0	0	0.0002	3.987e-05	8.636e-05	1.25e-05	4.609e-05	4.598e-05	1.288e-05	8.086e-05	7.357e-05	2.113e-05	1.529e-05	2.848e-05	1.86e-05	0	0	6.547e-05	0.0003	0	0	0	7.357e-05	0	0	0.003	0.68238	D	0.012	0.63918	D	0.993	0.65571	D	0.911	0.64720	D	0.000000	0.84330	D	0.048398	0.998675	0.45259	D	2.72	0.79541	M	0.91	0.44856	T	-5.19	0.83625	D	0.563	0.58713	-0.8122	0.54417	T	0.185	0.53391	T	10	0.44930905	0.58597	T	0.029636	0.52109	D	0.283	0.60100	0.594	0.72371	0.56963480967	0.56629	0.6336227710995452	0.63296	1.09675032137	0.77605	0.900795221329	0.96528	D	0.22888	0.59454	T	-0.153515	0.27764	T	-0.298814	0.44848	T	0.950727164745331	0.63400	D	0.939006	0.77019	D	0.6636774	0.76095	0.5251055	0.72563	0.6636774	0.76096	0.5251055	0.72563	-12.666	0.87941	D	.	.	0.640	0.70519	P	.	.	5.328526	0.89429	30	0.99638716256351767	0.76510	0.39698	0.26271	N	AEFDGBCI	0.194557	0.32163	N	0.206419471741423	0.51510	3.331632	0.0566258062627869	0.42394	2.563361	0.999989086992392	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.86	1.65	0.23015	3.324000	0.51734	.	.	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1512:0.0:0.8488	5.622	0.16740	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	38	chr2	131491965	.	T	G	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=737;ExcessHet=0;FS=3.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.14;MQRankSum=-1.071;QD=9.54;ReadPosRankSum=0.761;SOR=1.284	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1449	18	0	1	0
chr2	131492228	131492228	C	G	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon1:c.G149C:p.G50A	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0002	0.00379393	0.0006	0.0049	0.0009	0.0004	0	0.0004	0	0	0.0005304	82	154602	rs10178851	0.0010	0.0011	0.0011	0.0009	0.0263	0.0009	0.0009	0.0248	0.0243	0.0263	0.0009	7.819e-05	0.0002	0.0002	0.0024	0.0003	0.0021	0.0002	0.0077	0.0078	0.0080	0.0075	0.0263	0.0074	0.0072	0.0250	0.0245	0.0263	0	0.0033	0	0	0	0	0.0003	0.0047	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.029461	0.25452	N	0.448888	1	0.08975	N	-0.985	0.01192	N	1.65	0.27650	T	0.08	0.06026	N	0.096	0.07673	-0.9978	0.30535	T	0.008	0.02638	T	10	0.0037489235	0.00070	T	.	.	.	0.037	0.09474	.	.	0.209622950755	0.20551	0.18854438320404213	0.18772	0.331921115045	0.35258	0.864394664764	0.91757	D	0.001099	0.00611	T	-0.554031	0.00276	T	-0.560642	0.16317	T	0.000291533886464554	0.00002	T	0.149385	0.01246	T	0.024817655	0.01351	0.030575732	0.01530	0.024817655	0.01351	0.030575732	0.01530	0.029	0.00339	T	.	.	0.059	0.00754	B	.	.	1.258560	0.16560	12.62	0.24840320818707706	0.01117	0.02013	0.06052	N	AEFDBCIJ	0.027129	0.02161	N	-1.62724626239063	0.01134	0.04927992	-1.53637662764303	0.02071	0.09470705	0.999912804119052	0.45857	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.72	-0.378	0.11875	0.840000	0.27253	.	.	-0.586000	0.04674	0.580000	0.27586	1.000000	0.68203	0.392000	0.26603	0.2562:0.401:0.3428:0.0	3.927	0.08768	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002623	0.005319	0.004155	0.003571	0.000000	0.000000	0.003145	0.000000	0.02632	981.33	38	chr2	131492228	.	C	G	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.01;MQRankSum=-7.641;QD=9.26;ReadPosRankSum=2.32;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1449	18	0	1	0
chr2	132645287	132645287	C	T	exonic	GPR39	.	nonsynonymous SNV	GPR39:NM_001508:exon2:c.C1043T:p.S348L	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.0409893252672	.	.	8.241e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs746210788	1.368e-06	1.368e-06	2.722e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000026	0.55875	D	0.074840	0.999999	0.81001	D	2.325	0.66631	M	0.95	0.43279	T	-4.89	0.81431	D	0.847	0.84298	-0.5455	0.66956	T	0.276	0.64753	T	10	0.9011611	0.89477	D	0.040989	0.59680	D	0.664	0.87479	0.709	0.84509	0.81822831969	0.81651	0.7058261638803228	0.70524	0.995737323308	0.74226	0.588798820972	0.51324	T	0.528147	0.83622	D	0.201701	0.74052	D	0.148807	0.80108	D	0.99729198217392	0.91218	D	0.941006	0.77964	D	0.76181406	0.81560	0.6512982	0.79596	0.76181406	0.81562	0.6512982	0.79597	-12.213	0.85873	D	0.6450853962491638	0.71639	0.791	0.76888	P	.	.	5.754132	0.93395	33	0.99916941596385678	0.98449	0.96224	0.68106	D	AEFDBHCI	0.904110	0.85401	D	0.852023177837831	0.89224	9.884252	0.829832494068671	0.91784	11.06663	0.999999999999957	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.726000	0.83783	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.195	0.93673	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2097.33	35	chr2	132645287	.	C	T	2097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=907;ExcessHet=0;FS=2.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.365;SOR=0.525	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	132646095	132646095	G	A	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.C220T:p.R74C,LYPD1:NM_001321235:exon3:c.C220T:p.R74C,LYPD1:NM_144586:exon3:c.C376T:p.R126C,LYPD1:NM_001321234:exon4:c.C424T:p.R142C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0045	0.00419329	0.0013	0.0140	0.0008	0	0	3.069e-05	0	0.0005	0.0011643	180	154602	rs58347009	0.0005	0.0005	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0004	0	0.0001	0	0.0026	6.595e-05	0.0008	0.0004	0.0039	0.0039	0.0038	0.0039	0.0135	0.0036	0.0035	0.0125	0.0122	0.0135	0	0.0010	0	0	0	0	0.0001	0.0024	0.0002	0.054	0.39097	T	0.179	0.29540	T	0.03	0.20002	B	0.004	0.10090	B	0.680023	0.06086	N	1.160310	1	0.08975	N	0	0.06538	N	-1.48	0.81150	T	-0.61	0.18042	N	0.147	0.14905	-0.8920	0.48758	T	0.134	0.44720	T	10	0.0043471456	0.00088	T	.	.	.	0.149	0.39377	.	.	0.406120066682	0.40223	0.6885819505860581	0.68798	0.515052659661	0.49424	0.276668488979	0.07032	T	0.054204	0.29658	T	-0.488192	0.00665	T	-0.462354	0.26343	T	0.00995597675578201	0.00132	T	0.432757	0.11926	T	0.053014606	0.09972	0.032820486	0.02076	0.053014606	0.09972	0.032820486	0.02076	-3.145	0.11820	T	.	.	0.097	0.17615	B	.;.	.;.	1.490723	0.19177	14.13	0.94574524982146857	0.25112	0.40899	0.26538	N	AEFDBHCIJ	0.153398	0.27825	N	-0.965707474711075	0.09343	0.4418082	-0.912399038843217	0.11801	0.603421	0.69024693654394	0.22580	0.706548	0.73137	0	0.573888	0.26702	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	5.55	2.75	0.31439	1.048000	0.29989	.	.	-0.117000	0.14459	0.063000	0.21864	0.924000	0.28388	0.410000	0.27006	0.2924:0.1192:0.4514:0.137	1.743	0.02778	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005187	0.000000	0.006793	0.006993	0.000000	0.043103	0.000000	0.000000	0.02632	1610.33	33	chr2	132646095	.	G	A	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=739;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.041;SOR=0.94	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1416	18	0	1	0
chr2	132782991	132782991	G	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C3820T:p.R1274C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	.	0.00439297	0.0016	0.0002	8.639e-05	0	0	0.0001	0	0.0112	0.0014553	225	154602	rs535070542	0.0007	0.0007	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	2.987e-05	2.236e-05	0	0	0	0.0024	3.688e-05	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0.0001	0	0	0.0003	0	0	0	5.881e-05	0	0.0110	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.001921	0.37643	U	0.000000	0.999768	0.81001	D	2.545	0.74286	M	1.48	0.31731	T	-4.11	0.74980	D	0.923	0.92667	-0.9513	0.40747	T	0.142	0.46349	T	10	0.009795606	0.00220	T	.	.	.	0.399	0.71321	.	.	0.368394457434	0.36455	0.3935146497504014	0.39266	0.320019156333	0.34209	0.741193532944	0.73149	T	0.044222	0.26749	T	-0.107154	0.35240	T	0.0826999	0.75759	D	0.100738267906844	0.12439	T	0.975469	0.91344	D	0.37069884	0.58637	0.26393282	0.52205	0.37069884	0.58637	0.26393282	0.52204	-9.84	0.72948	D	.	.	0.854	0.79981	P	.;.	.;.	5.659605	0.92865	33	0.99945852775352384	0.99901	0.97216	0.73376	D	AEFBI	0.841248	0.75846	D	0.717797375947227	0.80798	7.375022	0.74258770698927	0.85601	8.629911	0.858515324534032	0.25180	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	5.5	0.81386	6.568000	0.73878	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.770	0.88400	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3293.33	33	chr2	132782991	.	G	A	3293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.913;DP=1360;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.799;SOR=0.662	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr2	132784935	132784935	A	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.T1876C:p.S626P	.	439	1073	10	0	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.012434163557	8.3e-05	0.000998403	0.0011	0.0001	0	0.0005	0	0.0004	0	0.0081	0.0009185	142	154602	rs201000665	0.0005	0.0005	0.0004	0.0007	0.0063	0.0005	0.0005	0.0058	0.0057	6.085e-05	0.0002	0	0.0005	0	0.0018	0.0002	0.0005	0.0063	0.0006	0.0006	0.0003	0.0009	0.0067	0.0005	0.0005	0.0048	0.0042	4.814e-05	0	0.0025	0	0.0002	0	0.0034	0.0003	0.0005	0.0067	0.011	0.55530	D	0.099	0.38891	T	0.42	0.35330	B	0.197	0.36707	B	0.254944	0.15432	U	0.466067	1	0.18198	N	2.155	0.60227	M	0.84	0.47477	T	-1.7	0.40468	N	0.186	0.20262	-1.0094	0.27105	T	0.095	0.35791	T	10	0.0037727058	0.00070	T	0.012434	0.30996	T	0.076	0.22200	.	.	0.082315109003	0.07666	0.076513547544345	0.07587	0.0490270278888	0.05361	0.30133664608	0.10600	T	0.005112	0.04549	T	-0.481841	0.00721	T	-0.462988	0.26274	T	0.0273570029385819	0.01594	T	0.50265	0.15781	T	0.20821725	0.43051	0.24029279	0.49400	0.20821725	0.43051	0.24029279	0.49399	-3.727	0.19717	T	.	.	0.078	0.07036	B	.;.	.;.	0.716596	0.10854	7.532	0.98996354087645733	0.50044	0.13105	0.17666	N	AEFBI	0.166332	0.29291	N	-0.618814560407376	0.18379	0.9537493	-0.674466003117495	0.17600	0.9365959	3.57138190330216E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	1.95	0.25130	1.188000	0.31711	.	.	0.751000	0.87719	0.131000	0.23362	0.007000	0.19602	0.113000	0.18872	0.7842:0.0:0.2158:0.0	8.598	0.32887	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	6366.83	37	chr2	132784935	.	A	G	6366.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.219;DP=2178;ExcessHet=0.119;FS=1.739;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.56;SOR=0.816	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	17	0	2	0
chr2	134953452	134953452	A	G	exonic	CCNT2	.	nonsynonymous SNV	CCNT2:NM_001241:exon9:c.A997G:p.M333V,CCNT2:NM_058241:exon9:c.A997G:p.M333V,CCNT2:NM_001320748:exon10:c.A565G:p.M189V,CCNT2:NM_001320749:exon10:c.A472G:p.M158V	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	7.7e-05	0.00219649	0.0011	0.0002	0	0.0007	0	9.876e-05	0	0.0071	0.0009444	146	154602	rs377180297	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	0.0002	4.473e-05	0	0.0004	0	0.0016	7.286e-05	0.0005	0.0063	0.0004	0.0004	0.0002	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	0.0002	0	0	0	0.0006	0	0	8.819e-05	0	0.0087	1.0	0.00964	T	0.424	0.15456	T	0.0	0.02946	B	0.0	0.01387	B	0.447441	0.12550	N	0.787370	1	0.08975	N	0	0.06538	N	2.05	0.20664	T	0.06	0.06253	N	0.056	0.02759	-1.0568	0.12569	T	0.015	0.06234	T	10	0.002007991	0.00028	T	.	.	.	0.030	0.07022	.	.	0.236890367714	0.23314	0.30673898240813696	0.30586	0.0983630218035	0.11110	0.249537572265	0.03719	T	0.086407	0.37718	T	-0.721361	0.00027	T	-0.806211	0.01752	T	0.00807758681216015	0.00096	T	0.49985	0.15613	T	0.040594198	0.05823	0.042638987	0.05124	0.040594198	0.05823	0.042638987	0.05124	-2.853	0.09590	T	.	.	0.049	0.00120	B	.;.	.;.	-1.781816	0.00163	0.002	0.39634167417772453	0.02747	0.14321	0.18341	N	AEFGBCI	0.040615	0.06065	N	-1.98801825991373	0.00224	0.009619033	-2.02737783272952	0.00268	0.01181856	0.999999997240044	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	-11.4	0.00070	-0.745000	0.04939	-3.302000	0.02893	-2.043000	0.00423	0.100000	0.22794	0.000000	0.08366	0.909000	0.44452	0.6662:0.1265:0.0751:0.1321	4.427	0.10933	915	0.20917	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2865.33	33	chr2	134953452	.	A	G	2865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=841;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.649;SOR=0.801	GT:AD:DP:GQ:PL	0/1:119,111:230:99:2879,0,3169	18	0	1	0
chr2	134980968	134980968	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon7:c.T3434C:p.F1145S,MAP3K19:NM_001282883:exon7:c.T1169C:p.F390S,MAP3K19:NM_001018046:exon8:c.T1319C:p.F440S,MAP3K19:NM_001018047:exon8:c.T1175C:p.F392S,MAP3K19:NM_025052:exon9:c.T3773C:p.F1258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.072646300862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000347	0.45440	D	0.000000	0.998733	0.81001	D	1.355	0.33814	L	1.76	0.25996	T	-6.49	0.94647	D	0.931	0.94432	-0.9240	0.44999	T	0.143	0.46495	T	10	0.92144215	0.91497	D	0.072646	0.71584	D	0.643	0.86435	0.815	0.92992	0.608018665328	0.60488	0.8427551262469224	0.84236	0.736878551072	0.63027	0.830686748028	0.86668	D	0.023488	0.17920	T	0.228461	0.76576	D	0.0903916	0.76271	D	0.998370468616486	0.93972	D	0.952705	0.82105	D	0.86104345	0.88166	0.89707744	0.94769	0.86104345	0.88167	0.89707744	0.94769	-14.922	0.95667	D	.	.	0.983	0.92764	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.114235	0.85514	28.6	0.99862474909271814	0.94093	0.91219	0.53094	D	AEFBCI	0.890344	0.82530	D	0.713750665781323	0.80532	7.315393	0.716504619448664	0.83632	8.072922	0.938856271519112	0.27361	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.6	5.6	0.84997	7.086000	0.76553	11.261000	0.91078	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.97	0.70878	904	0.23766	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	192	chr2	134980968	.	A	G	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=830;ExcessHet=0;FS=6.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.202;SOR=1.108	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1483	18	0	1	0
chr2	134986803	134986803	G	A	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.C1730T:p.S577L,MAP3K19:NM_001321177:exon7:c.C2120T:p.S707L,MAP3K19:NM_025052:exon7:c.C2069T:p.S690L	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.116860808735	0.0038	0.00239617	0.0036	0.0012	0.0026	0	0.0008	0.0054	0.0033	0.0018	0.0034799	538	154602	rs55867035	0.0040	0.0040	0.0039	0.0040	0.0059	0.0039	0.0038	0.0044	0.0043	0.0007	0.0037	0.0068	0	0.0011	0.0059	0.0045	0.0036	0.0015	0.0037	0.0037	0.0039	0.0035	0.0054	0.0035	0.0034	0.0050	0.0048	0.0011	0.0187	0.0048	0.0063	0.0002	0.0008	0.0102	0.0054	0.0057	0.0023	0.0	0.91255	D	0.001	0.83351	D	0.998	0.77913	D	0.608	0.57337	P	0.015622	0.28194	N	0.170573	1	0.81001	D	2.455	0.71248	M	-1.1	0.78537	T	-2.93	0.61284	D	0.1	0.23884	0.030	0.82852	D	0.468	0.79460	T	10	0.008818835	0.00200	T	0.116861	0.79648	D	0.255	0.56562	.	.	0.816400970077	0.81467	0.31529524285398297	0.31442	0.124052883674	0.13968	0.394872546196	0.24353	T	0.009168	0.08364	T	-0.251388	0.13928	T	-0.132511	0.60761	T	0.0447551780606734	0.04557	T	0.864713	0.59112	D	0.31624252	0.54320	0.32199183	0.58143	0.31624252	0.54320	0.32199183	0.58142	-3.949	0.26082	T	.	.	0.092	0.18828	B	.;.;.;.;.	.;.;.;.;.	3.238386	0.44194	21.9	0.99864946210166361	0.94276	0.92047	0.54827	D	AEFBI	0.377990	0.46155	N	0.367295993602464	0.59658	4.147141	0.33157358952513	0.57405	3.905999	0.506580128004331	0.20986	0.603402	0.35316	0	0.588066	0.40923	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	5.67	5.67	0.87673	2.462000	0.44706	8.346000	0.77004	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.109000	0.18697	0.0:0.0:1.0:0.0	19.778	0.96401	897	0.25382	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2454.33	34	chr2	134986803	.	G	A	2454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.645;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	18	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H,MAP3K19:NM_001321177:exon7:c.T1189C:p.Y397H,MAP3K19:NM_025052:exon7:c.T1138C:p.Y380H	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.005051	0.029891	0.026316	0.000000	0.017241	0.033537	0.015152	0.07895	5683.77	40	chr2	134987734	.	A	G	5683.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.736;DP=1318;ExcessHet=0;FS=1.068;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=-0.14;SOR=0.598	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1873,0,2288	17	1	1	0
chr2	135126596	135126596	A	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon11:c.A913G:p.I305V,RAB3GAP1:NM_012233:exon11:c.A913G:p.I305V	Warburg micro syndrome 1, Autosomal recessive	4	1474	41	3	0	47	0.0156928	.	.	.	135518	Warburg_micro_syndrome_1|not_specified|RAB3GAP1-related_disorder|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	0.0072	0.00898562	0.0089	0.0021	0.0054	0.0001	0.0026	0.0099	0.0110	0.0189	0.0086804	1342	154602	rs116775947	0.0077	0.0078	0.0072	0.0083	0.0187	0.0076	0.0076	0.0180	0.0177	0.0012	0.0052	0.0198	7.568e-05	0.0024	0.0141	0.0073	0.0083	0.0187	0.0066	0.0065	0.0069	0.0062	0.0228	0.0062	0.0061	0.0194	0.0181	0.0016	0	0.0078	0.0202	0.0002	0.0025	0.0034	0.0086	0.0076	0.0228	0.341	0.12673	T	0.279	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.041509	0.23942	N	0.490245	0.999958	0.19072	N	1.04	0.26193	L	0.01	0.62459	T	-0.27	0.12099	N	0.13	0.14338	-1.0304	0.20325	T	0.085	0.33099	T	10	0.005227387	0.00114	T	.	.	.	0.097	0.27909	.	.	0.17948927462	0.17512	0.2884991921773474	0.28762	0.184370431722	0.20736	0.294789135456	0.09627	T	0.061067	0.31556	T	-0.59588	0.00154	T	-0.613122	0.11732	T	0.00159665183169324	0.00016	T	0.777722	0.41106	T	0.027858831	0.02039	0.03528073	0.02750	0.027074276	0.01849	0.05714349	0.10334	-3.78	0.20506	T	0.1100644318538572	0.09261	0.061	0.01449	B	.;.;.	.;.;.	0.537842	0.09066	5.847	0.67689070614332958	0.08430	0.26068	0.22886	N	AEFBCI	0.112483	0.22231	N	-1.17102947563102	0.05442	0.2481394	-1.14005652483478	0.06947	0.3361967	0.991107614601228	0.32374	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	-5.78	0.02169	0.048000	0.13962	0.132000	0.15059	-0.191000	0.09375	0.038000	0.20882	0.279000	0.24096	0.981000	0.58702	0.1983:0.6775:0.1243:0.0	14.072	0.64387	832	0.38914	.;.;.	.	.	.	.	rs116775947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012085	0.000000	0.012228	0.005848	0.000000	0.008621	0.024390	0.011364	0.02632	1143.33	40	chr2	135126596	.	A	G	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=772;ExcessHet=0;FS=3.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-2.226;SOR=0.999	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	18	0	1	0
chr2	135130027	135130027	C	T	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon12:c.C1006T:p.R336C,RAB3GAP1:NM_012233:exon12:c.C1006T:p.R336C	Warburg micro syndrome 1, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	206842	not_provided|Warburg_micro_syndrome_1|not_specified|Amenorrhea	MedGen:C3661900|MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0139611848774	0.0045	0.00199681	0.0045	0.0006	0.0023	0.0001	0.0038	0.0067	0.0055	0.0021	0.0043014	665	154602	rs150478342	0.0042	0.0042	0.0040	0.0045	0.0046	0.0041	0.0041	0.0045	0.0044	0.0005	0.0036	0.0063	0.0002	0.0059	0.0012	0.0046	0.0038	0.0022	0.0041	0.0041	0.0040	0.0042	0.0064	0.0038	0.0037	0.0059	0.0057	0.0011	0	0.0037	0.0066	0	0.0043	0	0.0064	0.0019	0.0029	0.11	0.29158	T	0.251	0.23707	T	0.006	0.13644	B	0.003	0.08700	B	0.000000	0.84330	D	0.051769	0.999997	0.58761	D	-0.705	0.01820	N	-0.56	0.71187	T	-1.97	0.45587	N	0.417	0.45709	-0.8641	0.50966	T	0.154	0.48360	T	10	0.010591298	0.00235	T	0.013961	0.33748	T	0.165	0.42395	.	.	0.77802213224	0.77597	0.2844282953665454	0.28355	0.303245547565	0.32643	0.495335102081	0.38178	T	0.355143	0.72219	T	-0.326493	0.06381	T	-0.2338	0.51402	T	0.0127724853921448	0.00217	T	0.966503	0.87759	D	0.27245972	0.50315	0.12647483	0.30460	0.2680177	0.49874	0.14211549	0.33819	-4.726	0.33718	T	0.1041798317734197	0.08119	0.104	0.18705	B	.;.;.	.;.;.	3.842022	0.55601	23.6	0.98332486068672253	0.40358	0.83692	0.42793	D	AEFBI	0.252903	0.37249	N	-0.0904584411929508	0.37810	2.205185	0.105299663919169	0.44818	2.756358	0.697943650891043	0.22663	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	2.608000	0.45973	4.023000	0.41268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1543:0.8457:0.0:0.0	13.702	0.62093	833	0.38804	.;.;.	.	.	.	.	rs150478342	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	655.33	36	chr2	135130027	.	C	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.051;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.987;SOR=0.756	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1575	18	0	1	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L,RAB3GAP1:NM_012233:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	489.92	33	chr2	135153721	.	G	C	489.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.996;DP=1209;ExcessHet=0.3672;FS=266.608;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.64;SOR=9.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	15	0	3	1
chr2	135269005	135269005	T	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon11:c.A1343G:p.N448S,ZRANB3:NM_032143:exon11:c.A1343G:p.N448S	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.047852108332	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs527503710	0.0002	0.0002	9.824e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	2.701e-06	0.0003	0.0025	0.0001	0.0001	1.287e-05	0.0002	0.0037	7.59e-05	6.293e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.234	0.18562	T	0.066	0.44501	T	0.294	0.32693	B	0.287	0.40572	B	0.000005	0.62929	D	0.139118	0.990062	0.41080	D	-0.42	0.02904	N	-2.97	0.92007	D	-1.4	0.34596	N	0.24	0.27077	0.048	0.83199	D	0.552	0.83607	D	10	0.016221672	0.00341	T	0.047852	0.63111	D	0.355	0.67600	0.401	0.43081	0.643017298775	0.64006	0.24679131454246303	0.24593	0.0664678907798	0.07414	0.388327896595	0.23435	T	0.004518	0.03927	T	-0.396806	0.02430	T	-0.347376	0.39505	T	0.0599702310969217	0.07165	T	0.967503	0.88224	D	0.087009	0.20245	0.08465792	0.19490	0.087009	0.20245	0.08465792	0.19489	-7.273	0.56003	T	.	.	0.076	0.06525	B	.;.	.;.	3.095253	0.41689	21.4	0.99331245764536857	0.59777	0.93579	0.58603	D	AEFBI	0.321244	0.42410	N	-0.0263890044163785	0.40663	2.418709	0.173675485697843	0.48409	3.057252	0.648606548585139	0.22136	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	5.55	0.83298	3.429000	0.52567	6.055000	0.53123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0733:0.0:0.9267	10.367	0.43215	824	0.40336	.;Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1635.33	34	chr2	135269005	.	T	C	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=742;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.183;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1238	18	0	1	0
chr2	135350084	135350084	G	T	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon5:c.C491A:p.S164Y,ZRANB3:NM_032143:exon5:c.C491A:p.S164Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.456318075658	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs544233017	7.047e-05	7.046e-05	3.54e-05	0.0001	0.0011	5.915e-05	5.524e-05	0.0010	0.0009	0	0	0	0	0	0	1.799e-06	3.313e-05	0.0011	2.628e-05	2.625e-05	0	5.375e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.555	0.93317	H	-3.36	0.94067	D	-3.81	0.71882	D	0.867	0.87373	1.049	0.98090	D	0.919	0.97328	D	10	0.78653586	0.78295	D	0.456318	0.94433	D	0.935	0.98526	0.705	0.84145	0.915671678084	0.91482	0.7906200967371104	0.79014	0.356834011381	0.37416	0.595841646194	0.52318	T	0.53626	0.84041	D	0.256766	0.79228	D	0.518063	0.94978	D	0.941609084606171	0.61501	D	0.941406	0.78138	D	0.8146269	0.84860	0.76649886	0.86208	0.8146269	0.84861	0.76649886	0.86209	-14.424	0.94353	D	.	.	0.695	0.72737	P	.;.	.;.	5.273101	0.88542	29.6	0.99499700710290673	0.67973	0.99457	0.96268	D	AEFDBI	0.893995	0.83252	D	1.00213663107791	0.95809	13.98837	0.945389739745056	0.97264	15.843	0.999999995056341	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	5.42	0.78666	9.947000	0.98954	11.680000	0.94210	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.216	0.93762	760	0.50470	.;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1587.33	33	chr2	135350084	.	G	T	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.665;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.03;QD=11.34;ReadPosRankSum=-2.055;SOR=0.643	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,110,1401	18	0	1	0
chr2	135641766	135641766	A	G	exonic	R3HDM1	.	nonsynonymous SNV	R3HDM1:NM_001282800:exon12:c.A1282G:p.S428G,R3HDM1:NM_001282798:exon15:c.A1450G:p.S484G,R3HDM1:NM_001354199:exon15:c.A1450G:p.S484G,R3HDM1:NM_001354200:exon15:c.A1450G:p.S484G,R3HDM1:NM_001378107:exon15:c.A1450G:p.S484G,R3HDM1:NM_015361:exon15:c.A1450G:p.S484G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0338406920794	.	.	5.795e-05	0	8.657e-05	0	0	4.514e-05	0	0.0002	4.53e-05	7	154602	rs557924039	4.447e-05	4.446e-05	3.676e-05	5.226e-05	0.0005	3.575e-05	3.257e-05	0.0002	0.0001	0	2.238e-05	0	0	0	0.0005	3.418e-05	1.656e-05	0.0003	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.004	0.65419	D	0.036	0.53072	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.077143	0.999996	0.81001	D	2.69	0.78713	M	0.11	0.61208	T	-2.58	0.55662	D	0.905	0.91047	-0.3628	0.73180	T	0.374	0.73227	T	10	0.77145123	0.77116	D	0.033841	0.55262	D	0.410	0.72176	.	.	0.744421343069	0.74212	0.8505030545118412	0.85012	0.84474731915	0.68233	0.714083433151	0.69185	T	0.255114	0.62586	T	0.0871186	0.62864	D	0.19334	0.82758	D	0.464778363704681	0.31340	T	0.914509	0.79272	D	0.5180993	0.68150	0.42964923	0.66640	0.5180993	0.68151	0.42964923	0.66640	-10.148	0.75811	D	.	.	0.332	0.69354	B	.;.;.	.;.;.	4.755808	0.76843	26.6	0.99849750049048813	0.92925	0.97918	0.78116	D	AEFBHCI	0.909572	0.86638	D	0.808655969174022	0.86645	8.952165	0.803181342205511	0.90013	10.21857	0.999989058155495	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.7	5.7	0.88690	9.215000	0.94270	11.086000	0.85840	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.975	0.79840	359	0.84979	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3156.81	44	chr2	135641766	.	A	G	3156.81	.	AC=2;AF=0.053;AN=38;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.88;SOR=2.254	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1386	18	1	0	0
chr2	135788521	135788521	C	T	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon17:c.G5587A:p.V1863M	Lactase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00424205514348	7.7e-05	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs371505824	6.853e-06	6.841e-06	6.818e-06	6.887e-06	0.0002	3.47e-06	2.53e-06	2.62e-06	1.68e-06	2.993e-05	0	0	0	0	0.0002	6.299e-06	1.661e-05	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.151	0.24564	T	0.194	0.28120	T	0.029	0.19866	B	0.009	0.14300	B	0.168795	0.03094	N	1.586460	1	0.08975	N	0.91	0.23283	L	1.62	0.28189	T	-0.36	0.13035	N	0.027	0.00571	-1.0366	0.18357	T	0.051	0.21883	T	10	0.035773635	0.01842	T	0.004242	0.10247	T	0.002	0.00045	.	.	0.139678290688	0.13603	0.35420725621695415	0.35334	0.625912473599	0.56749	0.298323482275	0.10152	T	0.266086	0.63801	T	-0.455177	0.01052	T	-0.794753	0.02036	T	0.0445708658074781	0.04524	T	0.427157	0.11500	T	0.02323899	0.01046	0.032245964	0.01930	0.02323899	0.01046	0.032245964	0.01930	-5.406	0.40977	T	.	.	0.081	0.08368	B	.	.	-1.286605	0.00450	0.009	0.89223413701123944	0.18613	0.01181	0.04234	N	AEFBI	0.053713	0.09701	N	-1.33298061276468	0.03305	0.1473895	-1.38346414868569	0.03427	0.1598654	0.999747307043614	0.42466	0.498214	0.20090	0	0.446627	0.06534	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.69	-2.59	0.05847	-3.075000	0.00679	-4.508000	0.02121	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.109:0.5886:0.0:0.3024	7.525	0.26818	244	0.90442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2766.33	167	chr2	135788521	.	C	T	2766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=1879;ExcessHet=0;FS=5.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.308;SOR=0.344	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	18	0	1	0
chr2	135866246	135866248	ACT	-	exonic	MCM6	.	nonframeshift deletion	MCM6:NM_005915:exon6:c.811_813del:p.S271del	Lactase persistence/nonpersistence, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.25e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs774158529	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2577.29	35	chr2	135866245	.	CACT	C	2577.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.197;DP=819;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.478;SOR=0.93	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1356	18	0	1	0
chr2	135876353	135876353	C	T	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon1:c.G13A:p.A5T	Lactase persistence/nonpersistence, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0169246003799	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373740116	5.498e-06	6.156e-06	4.104e-06	6.905e-06	0.0002	2.37e-06	1.71e-06	3.86e-06	1.45e-06	3.008e-05	0	0	0	0	0.0002	2.7e-06	1.663e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.637	0.07037	T	0.319	0.32965	B	0.043	0.24256	B	0.000158	0.49130	D	0.180712	0.994733	0.42395	D	-0.06	0.04898	N	4.01	0.03208	T	-0.15	0.09297	N	0.122	0.11340	-0.7286	0.59034	T	0.008	0.02801	T	10	0.10653618	0.19747	T	0.016925	0.38413	T	0.110	0.31079	.	.	0.263709349026	0.25991	0.4672426337566118	0.46643	0.198041994674	0.22181	0.625500142574	0.56507	T	0.052588	0.29203	T	-0.164049	0.26139	T	-0.473421	0.25149	T	0.267495668017856	0.23639	T	0.739426	0.35812	T	0.16673085	0.37027	0.23643543	0.48914	0.16673085	0.37027	0.23643543	0.48913	-6.216	0.48053	T	.	.	0.100	0.17232	B	.	.	3.596048	0.50772	23.0	0.99574708205314344	0.72621	0.70321	0.34542	D	AEFGBHCIJ	0.468836	0.51547	N	-0.178036271406517	0.34050	1.938911	0.013021885690457	0.40318	2.404278	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.95	0.64894	2.833000	0.47861	5.757000	0.49661	0.527000	0.24520	0.987000	0.36337	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	18.386	0.90411	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	333.33	24	chr2	135876353	.	C	T	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.717;DP=632;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.1;SOR=0.538	GT:AD:DP:GQ:PL	0/0:22,0:22:54:0,54,810	18	0	1	0
chr2	135985447	135985447	-	GCTGGC	exonic	DARS1	.	nonframeshift insertion	DARS1:NM_001349:exon1:c.21_22insGCCAGC:p.S7_R8insAS	.	421	1097	4	0	0	4	0.00181984	.	.	.	794770	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0005	0	0	0	0	0.0002	0.0023	0.0029	0.0004786	74	154602	rs551090724	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	5.974e-05	6.708e-05	0	0	7.514e-05	0.0012	9.353e-05	0.0004	0.0038	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.405e-05	0	0.0003	0.0003	0	0	0	0.0002	0.0009	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1248.29	40	chr2	135985447	.	G	GGCTGGC	1248.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.453;DP=829;ExcessHet=0;FS=8.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.86;SOR=0.552	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	18	0	1	0
chr2	137057139	137057139	C	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.C859T:p.H287Y	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00865920343071	0.0005	0.00139776	0.0009	0	0.0007	0.0001	0	0.0007	0	0.0032	0.0008344	129	154602	rs138536184	0.0006	0.0006	0.0005	0.0007	0.0043	0.0006	0.0006	0.0032	0.0031	8.961e-05	0.0006	0	5.038e-05	3.745e-05	0.0043	0.0004	0.0010	0.0035	0.0005	0.0005	0.0004	0.0006	0.0039	0.0004	0.0004	0.0026	0.0021	2.407e-05	0	0.0009	0	0	9.434e-05	0	0.0006	0.0009	0.0039	0.036	0.43393	D	0.155	0.32461	T	0.865	0.47557	P	0.582	0.50238	P	0.000209	0.47681	D	0.254140	0.838657	0.35031	D	.	.	.	2.46	0.22678	T	-1.81	0.42575	N	0.482	0.51672	-1.0549	0.13066	T	0.075	0.30272	T	10	0.010668129	0.00236	T	0.008659	0.22878	T	0.112	0.31546	.	.	0.306053231325	0.30222	0.2265960925020215	0.22574	0.463648763095	0.45864	0.308384954929	0.11663	T	0.02182	0.16927	T	-0.503573	0.00546	T	-0.499489	0.22401	T	0.0358017558464927	0.02946	T	0.746025	0.36642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.10449	B	.;.;.	.;.;.	2.959009	0.39404	21.0	0.99716485825744017	0.81703	0.96634	0.70130	D	AEFGI	0.586393	0.58445	D	0.149417804205922	0.48785	3.086508	0.228422151497015	0.51429	3.325623	0.00420211334434453	0.10457	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	4.771000	0.62011	5.929000	0.51288	0.549000	0.26987	0.997000	0.40164	0.972000	0.29809	0.955000	0.50612	0.1503:0.8496:0.0:0.0	14.126	0.64749	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1314.33	65	chr2	137057139	.	C	T	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.209;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.667;SOR=0.692	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	137970176	137970176	C	T	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_001024075:exon2:c.C149T:p.T50I,HNMT:NM_006895:exon2:c.C149T:p.T50I	Mental retardation, autosomal recessive 51, Autosomal recessive	427	1093	2	0	0	2	0.000914077	.	.	.	2358634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00498961428986	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.000194	30	154602	rs199629619	0.0001	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	3.102e-05	4.723e-05	0	0	0	0.0018	0.0002	0.0002	9.799e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.721e-05	0.0002	0.0002	0	0	6.54e-05	0	0	0	0	0.0003	0.0005	0	0.051	0.39334	T	0.07	0.43721	T	0.0	0.21573	B	0.002	0.16012	B	0.749514	0.09712	N	0.899265	0.999999	0.08975	N	1.95	0.52479	M	1.89	0.23688	T	-2.3	0.59059	N	0.171	0.30347	-0.9980	0.30479	T	0.025	0.10821	T	10	0.035957783	0.01870	T	0.00499	0.12598	T	0.063	0.18251	.	.	0.236278675362	0.23226	0.3702894558521705	0.36942	0.0664068669372	0.07407	0.407606720924	0.26126	T	0.111423	0.42690	T	-0.485025	0.00692	T	-0.628505	0.10528	T	0.0227613891678489	0.00996	T	0.531747	0.17943	T	0.15782401	0.35541	0.083363965	0.19098	0.15782401	0.35540	0.083363965	0.19097	-4.421	0.29840	T	0.32568498690632075	0.42383	0.124	0.38117	B	.;.;.	.;.;.	1.878661	0.23864	16.18	0.95313615282134367	0.26649	0.10867	0.16247	N	AEFGBCI	0.360370	0.45036	N	-0.980251124534344	0.09026	0.4255091	-0.953391523193075	0.10844	0.5488297	0.999854914587957	0.44174	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.563494	0.21769	0	.	.	5.28	0.281	0.14938	0.157000	0.16219	-1.133000	0.06232	0.597000	0.34315	0.090000	0.22578	0.000000	0.08366	0.918000	0.45347	0.2516:0.3447:0.2529:0.1507	1.590	0.02493	818	0.41518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	636.33	38	chr2	137970176	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.89;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.616;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr2	138005156	138005156	C	T	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_006895:exon5:c.C454T:p.P152S	Mental retardation, autosomal recessive 51, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2716333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00378180175392	.	.	3.304e-05	0	0	0	0	1.501e-05	0	0.0002	2.59e-05	4	154602	rs762749102	2.841e-05	2.873e-05	1.934e-05	3.754e-05	0.0004	2.114e-05	1.902e-05	0.0003	0.0003	0	0	0	0	0	0	9.128e-07	5.023e-05	0.0004	6.574e-06	6.563e-06	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.149	0.24758	T	0.152	0.32249	T	0.042	0.21471	B	0.021	0.19346	B	0.012500	0.29156	N	0.415561	0.997495	0.43934	D	2.75	0.80375	M	2.06	0.20523	T	-1.13	0.29114	N	0.31	0.34981	-1.0958	0.04639	T	0.052	0.22269	T	10	0.14252985	0.27071	T	0.003782	0.08806	T	0.043	0.11576	0.307	0.27806	0.354183961838	0.35022	0.3965635980936812	0.39571	0.063845511626	0.07113	0.343398422003	0.16947	T	0.066149	0.32870	T	-0.360387	0.04108	T	-0.476012	0.24872	T	0.229765951633453	0.21940	T	0.783622	0.42065	T	0.30846122	0.53653	0.16163571	0.37587	0.30846122	0.53653	0.16163571	0.37586	-5.709	0.43773	T	0.3373060406797763	0.43520	0.120	0.24901	B	.;.	.;.	2.755570	0.36129	20.2	0.98956379981424136	0.49246	0.85564	0.44709	D	AEFBI	0.710131	0.66400	D	-0.161377155818123	0.34751	1.987451	-0.0123327498216134	0.39156	2.317457	0.998896298187855	0.37915	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.48	4.57	0.55860	1.982000	0.40260	3.982000	0.40914	0.599000	0.40250	0.960000	0.33603	0.999000	0.35428	0.996000	0.76049	0.0:0.9188:0.0:0.0812	13.164	0.58981	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1561.33	36	chr2	138005156	.	C	T	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=746;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.481;SOR=0.764	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1256	18	0	1	0
chr2	140238274	140238274	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon89:c.C13438T:p.P4480S	.	464	1052	6	0	0	6	0.0028436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00399361	0.0021	0	0.0002	0.0145	0.0003	0.0006	0.0023	0.0055	0.0018952	293	154602	rs75758215	0.0011	0.0011	0.0009	0.0013	0.0176	0.0010	0.0010	0.0165	0.0161	0.0001	0.0002	0.0002	0.0176	0.0002	0.0050	0.0002	0.0022	0.0052	0.0009	0.0009	0.0008	0.0011	0.0129	0.0008	0.0008	0.0104	0.0095	0.0001	0	0.0005	0.0006	0.0129	0.0003	0	0.0003	0.0010	0.0066	0.315	0.13789	T	0.231	0.25061	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.715	0.44382	L	1.03	0.40469	T	-1.05	0.27463	N	0.701	0.70527	-0.9644	0.38330	T	0.128	0.43605	T	10	0.008606732	0.00195	T	.	.	.	0.228	0.52768	.	.	0.23524818089	0.23142	0.6792548427150938	0.67864	0.502864399541	0.48636	0.743744850159	0.73524	T	0.307231	0.67939	T	-0.293543	0.09284	T	-0.184043	0.56147	T	0.0621516181530887	0.07504	T	0.912409	0.68863	D	0.15304549	0.34711	0.2950626	0.55537	0.15304549	0.34711	0.2950626	0.55536	-5.605	0.42838	T	.	.	0.502	0.64654	A	.	.	4.028405	0.59550	24.1	0.99676912350307612	0.78977	0.99004	0.89829	D	AEFI	0.936186	0.93213	D	0.760307874649189	0.83574	8.053339	0.787978252393895	0.88946	9.77714	0.999999831305807	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	9.352000	0.96480	.	.	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.078	0.97757	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	1079.33	100	chr2	140238274	.	G	A	1079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=724;ExcessHet=0;FS=3.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.656;SOR=0.4	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	18	0	1	0
chr2	140325822	140325822	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon80:c.A12280G:p.I4094V	.	433	1088	1	0	0	1	0.000459348	.	.	.	3699499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.231	0.0610505090154	.	.	5.803e-05	0	0	0	0	7.529e-05	0	0.0001	4.53e-05	7	154602	rs755528146	3.628e-05	3.625e-05	2.997e-05	4.265e-05	0.0003	2.83e-05	2.566e-05	6.099e-05	2.837e-05	2.99e-05	0	0	0	0	0.0003	4.138e-05	1.657e-05	3.479e-05	1.971e-05	1.969e-05	2.57e-05	1.344e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.719413	0.06304	N	1.216860	1	0.08975	N	-0.915	0.01320	N	-3.22	0.93352	D	0.21	0.04776	N	0.14	0.13911	-0.5151	0.68098	T	0.393	0.74677	T	10	0.04888627	0.04401	T	0.061051	0.68205	D	0.231	0.53208	0.477	0.55502	0.179529687257	0.17594	0.17225645808497847	0.17145	0.154882509621	0.17493	0.229292303324	0.01916	T	0.059396	0.31103	T	-0.23026	0.16614	T	-0.387001	0.34904	T	0.831062376499176	0.48613	D	0.680532	0.28920	T	0.024735058	0.01335	0.030595673	0.01535	0.024735058	0.01335	0.030595673	0.01535	-2.703	0.07329	T	.	.	0.054	0.00297	B	.	.	-0.456644	0.02009	0.179	0.13184186417745253	0.00252	0.02117	0.06260	N	AEFI	0.070767	0.14060	N	-1.6600403877183	0.00993	0.04306937	-1.65237675458202	0.01363	0.06158328	5.28639924591405E-4	0.07225	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-6.07	0.01976	-0.273000	0.08580	.	.	-0.186000	0.09761	0.001000	0.13787	0.000000	0.08366	0.940000	0.48062	0.0:0.2277:0.3367:0.4356	7.103	0.24529	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1601.33	127	chr2	140325822	.	T	C	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.782;DP=744;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.189;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr2	140334515	140334515	T	G	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon79:c.A12161C:p.E4054A	.	432	1074	14	2	0	18	0.00831025	.	.	.	732776	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0422532623378	0.0045	0.00219649	0.0035	0.0020	0.0022	0.0001	0.0011	0.0048	0.0035	0.0024	0.0034993	541	154602	rs79879036	0.0047	0.0048	0.0048	0.0047	0.0149	0.0046	0.0046	0.0124	0.0114	0.0019	0.0025	0.0151	0.0005	0.0010	0.0149	0.0051	0.0055	0.0024	0.0037	0.0037	0.0037	0.0037	0.0060	0.0035	0.0034	0.0050	0.0047	0.0017	0.0055	0.0060	0.0153	0.0004	0.0011	0.0068	0.0045	0.0057	0.0027	0.736	0.03741	T	0.224	0.25591	T	0.76	0.43524	P	0.484	0.47189	P	0.000008	0.62929	D	0.062767	0.983277	0.39994	D	0.695	0.17993	N	-3.68	0.95282	D	-0.33	0.12472	N	0.578	0.59986	-0.9041	0.47550	T	0.127	0.43442	T	10	0.009902418	0.00222	T	0.042253	0.60367	D	0.465	0.76089	.	.	0.268702046668	0.26493	0.774075906437719	0.77357	0.507590868077	0.48939	0.605115115643	0.53626	T	0.287376	0.66017	T	-0.187374	0.22644	T	-0.040421	0.67673	D	0.0300023271018627	0.01990	T	0.781022	0.41604	T	0.07963886	0.18206	0.06470844	0.13009	0.07963886	0.18205	0.06470844	0.13008	-9.669	0.71907	D	.	.	0.412	0.60259	A	.	.	3.469678	0.48398	22.6	0.98221350340564839	0.39307	0.96639	0.70156	D	AEFI	0.691520	0.65149	D	0.295540001995611	0.55922	3.756348	0.42177134061413	0.62922	4.51631	0.411530896176104	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.757000	0.68422	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.1392:0.8608	12.491	0.55242	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.005051	0.009511	0.017544	0.000000	0.000000	0.018293	0.000000	0.02632	1536.33	34	chr2	140334515	.	T	G	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.517;DP=746;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.302;SOR=0.385	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	140501848	140501848	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon55:c.A8689G:p.M2897V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0208281564685	7.7e-05	0.000199681	0.0002	0	8.831e-05	0	0	0.0004	0	0	0.0001876	29	154602	rs146626756	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	5.901e-05	5.299e-05	3.016e-05	0.0001	0.0043	0	0	0	7.04e-05	0.0004	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	8.9e-05	5.401e-05	0	0	0.0003	0.0075	0	0	0.0034	1.474e-05	0	0	0.364	0.11770	T	0.311	0.19660	T	0.48	0.36739	P	0.203	0.37000	B	0.000000	0.84330	U	0.000000	0.96292	0.38318	D	1.385	0.34509	L	-3.65	0.95179	D	-1.67	0.39887	N	0.33	0.37093	0.435	0.89617	D	0.716	0.90250	D	10	0.021428198	0.00512	T	0.020828	0.43499	T	0.421	0.73005	.	.	0.353785824208	0.34994	0.5565508081077131	0.55582	0.217784899984	0.24309	0.569637417793	0.48626	T	0.331952	0.70197	T	0.0153259	0.53748	T	-0.0154083	0.69331	D	0.0546415976180682	0.06297	T	0.737926	0.35508	T	0.35452884	0.57417	0.29448867	0.55479	0.35452884	0.57418	0.29448867	0.55478	-4.185	0.26534	T	.	.	0.102	0.18080	B	.	.	2.704924	0.35341	19.87	0.95695772544001911	0.27580	0.92817	0.56618	D	AEI	0.469389	0.51579	N	0.13125696215912	0.47926	3.011519	0.286815326425561	0.54769	3.640954	0.892902233118935	0.25894	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	2.148000	0.41859	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.412	0.83555	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1195.33	99	chr2	140501848	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.028;DP=752;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.697;SOR=0.552	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr2	140769243	140769243	A	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon35:c.T5728A:p.S1910T	.	434	1082	6	0	0	6	0.00276498	.	.	.	2446945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.017206703545	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	8.41e-05	13	154602	rs200076285	7.533e-05	7.524e-05	6.133e-05	8.948e-05	0.0004	6.389e-05	5.945e-05	0.0003	0.0002	0	0	0.0018	0	0	0.0002	9.903e-06	0.0003	0.0004	6.577e-05	6.562e-05	6.436e-05	6.725e-05	0.0006	3.52e-05	2.619e-05	0.0002	9.003e-05	0	0	0	0.0017	0	0	0	1.473e-05	0	0.0006	0.214	0.19361	T	0.324	0.18903	T	0.044	0.21686	B	0.022	0.19653	B	0.004178	0.34034	N	0.200305	0.996478	0.23003	N	1.88	0.49984	L	-2.84	0.91305	D	-1.85	0.43334	N	0.455	0.49237	-0.3339	0.74020	T	0.608	0.86098	D	10	0.06331578	0.08231	T	0.017207	0.38815	T	0.222	0.51872	0.385	0.40460	0.388112687808	0.38423	0.5784417953319664	0.57773	0.228694491547	0.25423	0.576929986477	0.49652	T	0.226447	0.59147	T	-0.219794	0.18022	T	-0.253172	0.49503	T	0.0552499133299907	0.06400	T	0.79912	0.44420	T	0.13057686	0.30463	0.13066056	0.31392	0.13057686	0.30463	0.13066056	0.31391	-5.201	0.38952	T	.	.	0.089	0.11941	B	.	.	2.252754	0.28777	17.91	0.9731116892113777	0.33327	0.89094	0.49356	D	AEFI	0.322140	0.42472	N	-0.101347184413441	0.37333	2.170578	0.0496621307812151	0.42056	2.537123	6.61732739569857E-4	0.07575	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.59	4.42	0.52775	3.922000	0.56173	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8556:0.1444:0.0:0.0	12.528	0.55442	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2375.83	33	chr2	140769243	.	A	T	2375.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.764;DP=825;ExcessHet=0.119;FS=2.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.97;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr2	140923069	140923069	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon21:c.G3215A:p.R1072H	.	433	1087	2	0	0	2	0.000919118	.	.	.	3207906	LRP1B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.328	.	.	0.00978435	0.0041	0.0002	0.0003	0	0	1.501e-05	0.0011	0.0294	0.0036416	563	154602	rs370586151	0.0017	0.0017	0.0010	0.0023	0.0268	0.0016	0.0016	0.0259	0.0255	8.977e-05	4.481e-05	0	2.522e-05	0	0.0010	9.897e-06	0.0018	0.0268	0.0011	0.0011	0.0006	0.0016	0.0338	0.0010	0.0009	0.0296	0.0280	4.818e-05	0	0	0	0.0002	0	0	0	0	0.0338	0.087	0.32453	T	0.076	0.42614	T	0.0	0.02946	B	0.002	0.06944	B	0.000001	0.84330	U	0.000000	0.987797	0.40651	D	2	0.54354	M	-3.85	0.95859	D	-1.9	0.50830	N	0.254	0.28732	-0.2922	0.75204	T	0.654	0.87962	D	10	0.013710856	0.00290	T	.	.	.	0.328	0.65026	.	.	0.513146447579	0.50955	0.8314965894793759	0.83108	0.814884222991	0.66894	0.271289378405	0.06310	T	0.492957	0.84011	T	-0.230141	0.16631	T	-0.0824085	0.64727	T	0.0252475004527636	0.01304	T	0.869313	0.58915	D	0.082178235	0.18918	0.066194676	0.13524	0.082178235	0.18917	0.066194676	0.13523	-6.965	0.53778	T	.	.	0.076	0.08033	B	.;.	.;.	2.309012	0.29552	18.16	0.99610070262046546	0.74753	0.82735	0.41923	D	AEFI	0.302011	0.41037	N	-0.437053765148192	0.24181	1.303866	-0.323783653649861	0.27332	1.515918	2.13797329014645E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	0.034	0.13500	1.461000	0.34866	.	.	0.599000	0.40250	0.986000	0.36153	0.010000	0.20010	0.997000	0.79791	0.2449:0.4843:0.0:0.2707	4.195	0.09898	894	0.26265	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1024.33	35	chr2	140923069	.	C	T	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=730;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.65;SOR=0.416	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1364	18	0	1	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.02632	2640.33	42	chr2	140994107	.	T	C	2640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=886;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.51;SOR=0.651	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr2	142885441	142885441	C	T	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon2:c.C74T:p.T25M,KYNU:NM_003937:exon2:c.C74T:p.T25M,KYNU:NM_001199241:exon3:c.C74T:p.T25M	.	423	1087	11	1	0	13	0.00594422	.	.	.	707742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00139776	0.0021	0	0.0027	0	0	0.0003	0.0022	0.0124	0.0018111	280	154602	rs199895914	0.0010	0.0010	0.0006	0.0014	0.0128	0.0009	0.0009	0.0122	0.0119	8.963e-05	0.0011	0	2.519e-05	1.872e-05	0.0019	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0008	0.0127	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0	0	0	0	0	0.0005	0.0005	0.0127	0.016	0.57480	D	0.035	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	0.000385	0.44960	D	0.225320	1	0.08975	N	2.74	0.80084	M	0.46	0.64630	T	-1.97	0.48020	N	0.439	0.51137	-0.7057	0.60164	T	0.247	0.61589	T	10	0.008279264	0.00188	T	.	.	.	0.191	0.46948	.	.	0.790655237196	0.78871	0.42017046998309715	0.41933	0.0607266434557	0.06755	0.367408037186	0.20458	T	0.054891	0.29853	T	-0.338039	0.05526	T	-0.247315	0.50082	T	0.074337959309471	0.09248	T	0.735226	0.35853	T	0.10781959	0.25493	0.09831209	0.23432	0.097442456	0.22968	0.11528473	0.27828	-5.837	0.44896	T	.	.	0.108	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.159454	0.42806	21.6	0.99803471985251913	0.88817	0.17750	0.19971	N	AEFBCI	0.127978	0.24556	N	0.1610350199355	0.49335	3.135126	0.0862344356662809	0.43854	2.67869	0.999994528473169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	1.673000	0.37150	3.159000	0.36559	0.599000	0.40250	0.003000	0.16062	0.202000	0.23578	0.588000	0.31090	0.1606:0.7592:0.0:0.0802	7.948	0.29159	841	0.37094	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1734.33	35	chr2	142885441	.	C	T	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.599;DP=773;ExcessHet=0;FS=5.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.187;SOR=0.409	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1247	18	0	1	0
chr2	142960678	142960678	G	A	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637A:p.D213N,KYNU:NM_003937:exon8:c.G637A:p.D213N,KYNU:NM_001199241:exon9:c.G637A:p.D213N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.016205500901	7.7e-05	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs373954314	4.109e-06	4.105e-06	6.815e-06	1.377e-06	5.403e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.403e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.092	0.41405	T	0.008	0.14655	B	0.022	0.19653	B	0.000498	0.43931	D	0.260668	0.999988	0.54805	D	2.18	0.61292	M	0.42	0.56937	T	-3.19	0.65512	D	0.273	0.31027	-0.6715	0.61761	T	0.246	0.61495	T	10	0.43572837	0.57780	T	0.016206	0.37354	T	0.197	0.47942	.	.	0.794676578507	0.79276	0.7187372660965697	0.71816	0.0566205886456	0.06256	0.487263202667	0.37060	T	0.607449	0.87509	D	-0.143227	0.29379	T	-0.443512	0.28415	T	0.917368233203888	0.57517	D	0.827017	0.49863	T	0.2561123	0.48649	0.18989725	0.42363	0.2561123	0.48649	0.18989725	0.42362	-8.143	0.63599	D	0.18234390506909112	0.23556	0.096	0.22537	B	.;.;.;.	.;.;.;.	3.584362	0.50547	23.0	0.99811325506449089	0.89531	0.97294	0.73849	D	AEFBI	0.896780	0.83822	D	0.289861361025884	0.55632	3.727405	0.414208647025604	0.62447	4.460473	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	54.58	72	chr2	142960678	.	G	A	54.58	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.346;DP=1280;ExcessHet=0;FS=140.983;InbreedingCoeff=-0.1354;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.65;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:89:99:.:.:0,235,3052:.	11	0	1	7
chr2	144399911	144399911	A	C	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon7:c.T1204G:p.L402V,ZEB2:NM_014795:exon8:c.T1276G:p.L426V	Mowat-Wilson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00568662680307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.029	0.62352	D	0.598	0.39274	P	0.436	0.45556	B	0.000010	0.62929	D	0.067136	0.99974	0.48716	D	2.135	0.59519	M	2.41	0.15492	T	-0.96	0.25551	N	0.276	0.36148	-1.1133	0.02801	T	0.048	0.20553	T	10	0.1534262	0.28960	T	0.005687	0.14742	T	0.129	0.35316	0.179	0.08626	0.261638197198	0.25763	0.29750094558808143	0.29663	1.31395625431	0.83289	0.610770881176	0.54425	T	0.02493	0.73667	T	-0.133277	0.30966	T	-0.42922	0.30023	T	0.347762763291453	0.26930	T	0.944706	0.79398	D	0.08913044	0.20814	0.082371004	0.18795	0.08913044	0.20813	0.082371004	0.18794	-5.837	0.44896	T	0.4470129396322169	0.53149	0.082	0.26545	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.465013	0.31763	18.84	0.9779254292627827	0.36008	0.78762	0.38909	D	AEFBCI	0.462732	0.51195	N	-0.371500912018467	0.26490	1.446085	-0.287825955360489	0.28498	1.589467	0.999747213453097	0.42466	0.706548	0.73137	0	0.610034	0.51514	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.53	1.86	0.24489	2.243000	0.42765	1.150000	0.24473	-0.714000	0.03913	1.000000	0.71638	0.888000	0.27792	0.984000	0.60418	0.5146:0.0:0.2142:0.2712	3.261	0.06446	819	0.41190	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	7342.33	34	chr2	144399911	.	A	C	7342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.168;DP=1247;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.693;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	18	0	1	0
chr2	147972762	147972762	G	T	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_002552:exon4:c.C202A:p.P68T,ORC4:NM_181741:exon4:c.C202A:p.P68T,ORC4:NM_181742:exon4:c.C202A:p.P68T,ORC4:NM_001190879:exon5:c.C202A:p.P68T,ORC4:NM_001374270:exon6:c.C202A:p.P68T	Meier-Gorlin syndrome 2, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.0314775019167	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs766148321	6.176e-06	8.209e-06	2.731e-06	9.656e-06	8.17e-05	2.91e-06	2.11e-06	3.788e-05	2.676e-05	0	0	0	0	0	0	1.804e-06	0	8.17e-05	6.576e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.025	0.51853	D	0.041	0.69154	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.048711	1	0.81001	D	3.5	0.92762	M	0.16	0.60610	T	-6.47	0.93475	D	0.739	0.74007	0.060	0.83437	D	0.528	0.82448	D	10	0.8914622	0.88489	D	0.031478	0.53550	D	0.587	0.83471	0.748	0.87905	0.912343839665	0.91146	0.6650625523075531	0.66443	0.517476731111	0.49612	0.613424062729	0.54800	T	0.129598	0.66340	T	0.152588	0.69509	D	0.162934	0.80986	D	0.909760057926178	0.56476	D	0.956404	0.87711	D	0.8277121	0.85744	0.7648629	0.86110	0.8500315	0.87339	0.77797794	0.86906	-8.661	0.65491	D	0.5455333084130176	0.61469	0.353	0.64136	A	.;.;.;.;.;.	.;.;.;.;.;.	4.781244	0.77498	26.7	0.99772356845057064	0.86003	0.97815	0.77336	D	AEFBI	0.918517	0.88770	D	1.01088296630098	0.96069	14.26769	0.955196943176692	0.97556	16.33604	0.999895971939834	0.45129	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	6.415000	0.73235	11.756000	0.95519	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.015	0.92870	898	0.25240	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	559.33	36	chr2	147972762	.	G	T	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.918;DP=649;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.564;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	18	0	1	0
chr2	148489926	148489926	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon11:c.G4294A:p.G1432R,MBD5:NM_018328:exon12:c.G3595A:p.G1199R	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	201240	not_provided|Intellectual_disability,_autosomal_dominant_1	MedGen:C3661900|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.302	0.0450540323599	0.0002	.	9.08e-05	9.677e-05	0	0.0002	0	6.006e-05	0.0011	0.0002	7.12e-05	11	154602	rs201334086	3.557e-05	3.557e-05	3.131e-05	3.988e-05	0.0003	2.762e-05	2.501e-05	8.198e-05	5.784e-05	0	0	0.0005	0.0002	0	0.0003	1.439e-05	0.0001	5.797e-05	7.888e-05	7.876e-05	0.0001	4.034e-05	0.0006	4.498e-05	3.513e-05	0.0002	8.398e-05	4.816e-05	0	0	0.0014	0.0006	0	0	1.471e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.78396	D	0.000005	0.62929	D	0.000000	0.999233	0.81001	D	0.895	0.22405	L	0.23	0.61677	T	-1.37	0.38734	N	0.539	0.62103	-0.5048	0.68475	T	0.288	0.65968	T	10	0.15922481	0.29923	T	0.045054	0.61794	D	0.302	0.62290	0.184	0.09259	0.428053063409	0.42423	0.4486388613139225	0.44781	0.187520301896	0.21068	0.604862213135	0.53590	T	0.041102	0.25748	T	0.00970198	0.52983	T	0.0128283	0.71165	D	0.213410399235777	0.21130	T	0.912709	0.69569	D	0.45625213	0.64437	0.4782838	0.69778	0.45625213	0.64437	0.4782838	0.69778	-2.796	0.08147	T	.	.	0.183	0.44707	B	.;.;.;.	.;.;.;.	4.100693	0.61141	24.3	0.99705444664170217	0.80936	0.99077	0.90888	D	AEFBI	0.884344	0.81396	D	0.760228115872001	0.83570	8.05199	0.817552651786079	0.90984	10.66332	0.999999999999616	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.01	6.01	0.97420	8.570000	0.90537	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.518	0.99217	650	0.62973	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2432.33	50	chr2	148489926	.	G	A	2432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=800;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.678;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	18	0	1	0
chr2	151437270	151437270	C	T	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon12:c.C1402T:p.P468S,RIF1:NM_001177663:exon13:c.C1402T:p.P468S,RIF1:NM_001177664:exon13:c.C1402T:p.P468S,RIF1:NM_018151:exon13:c.C1402T:p.P468S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00606981021827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.736e-06	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.412	0.14456	T	0.074	0.30795	B	0.014	0.26820	B	0.000794	0.41772	N	0.278541	0.997074	0.81001	D	1.87	0.49600	L	2.58	0.13434	T	-2.9	0.60827	D	0.287	0.33250	-1.0097	0.27012	T	0.018	0.07565	T	10	0.10432607	0.19227	T	0.00607	0.15875	T	0.080	0.23350	0.466	0.53729	0.292174397486	0.28832	0.3165661440825328	0.31569	0.0521512716169	0.05740	0.258996814489	0.04772	T	0.210743	0.57131	T	-0.213477	0.18892	T	-0.544422	0.17865	T	0.167132124304771	0.18383	T	0.787021	0.42899	T	0.060168862	0.12314	0.08558277	0.19771	0.060168862	0.12314	0.08558277	0.19770	-2.535	0.06025	T	.	.	0.074	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.247093	0.28697	17.88	0.50167447680552057	0.04337	0.69529	0.34224	D	AEFDBCI	0.080389	0.16251	N	-0.447367299975786	0.23828	1.282456	-0.304127512702091	0.27966	1.555608	0.450275813185682	0.20534	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.64	0.57399	1.283000	0.32843	.	.	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.0:0.7309:0.0:0.2691	5.981	0.18641	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	110	chr2	151437270	.	C	T	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=745;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-1.25;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr2	151455045	151455045	A	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon21:c.A2495G:p.N832S,RIF1:NM_001177663:exon22:c.A2495G:p.N832S,RIF1:NM_001177664:exon22:c.A2495G:p.N832S,RIF1:NM_018151:exon22:c.A2495G:p.N832S	.	.	.	.	.	.	.	.	.	.	.	4054956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.206871900288	7.7e-05	.	2.472e-05	9.638e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373042016	1.026e-05	1.026e-05	1.225e-05	8.252e-06	0.0002	6.16e-06	4.89e-06	3.984e-05	2.374e-05	0.0001	0	0	0	0	0.0002	5.396e-06	3.312e-05	2.319e-05	3.288e-05	3.284e-05	0	6.732e-05	9.66e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.66e-05	0	6.549e-05	0	0	0	0	0	0	0	0.456	0.08839	T	0.565	0.08961	T	0.013	0.16609	B	0.002	0.12992	B	0.543236	0.05326	N	1.203820	1	0.08975	N	0	0.06538	N	-4.92	0.98371	D	-0.36	0.13035	N	0.061	0.05670	0.310	0.87712	D	0.762	0.91890	D	10	0.036370605	0.01932	T	0.206872	0.87063	D	0.177	0.44549	.	.	0.474515700568	0.47080	0.06504760522674656	0.06443	0.0384574760045	0.04094	0.336455643177	0.15907	T	0.09035	0.38566	T	-0.243798	0.14869	T	-0.351307	0.39055	T	0.00693225720897317	0.00079	T	0.556544	0.19325	T	0.015249674	0.00129	0.020011337	0.00115	0.015249674	0.00129	0.020011337	0.00115	-2.822	0.08388	T	.	.	0.066	0.02861	B	.;.;.;.;.	.;.;.;.;.	0.050789	0.04644	1.301	0.67756685796369598	0.08450	0.03004	0.07870	N	AEFGBI	0.023763	0.01370	N	-1.32598854808046	0.03381	0.1509141	-1.29070375864893	0.04555	0.2151301	0.953333850337991	0.28067	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-3.26	0.04750	-0.863000	0.04367	.	.	-0.059000	0.16651	0.000000	0.06391	0.001000	0.17328	0.923000	0.45890	0.2973:0.0:0.3699:0.3327	4.942	0.13323	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2236.33	33	chr2	151455045	.	A	G	2236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.188;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1425	18	0	1	0
chr2	151463700	151463700	T	C	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.T4180C:p.S1394P,RIF1:NM_001177663:exon30:c.T4180C:p.S1394P,RIF1:NM_001177664:exon30:c.T4180C:p.S1394P,RIF1:NM_018151:exon30:c.T4180C:p.S1394P	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00893332246764	7.7e-05	0.000199681	3.316e-05	0	0	0	0	4.523e-05	0	6.079e-05	3.23e-05	5	154602	rs370921071	1.437e-05	1.436e-05	2.042e-05	8.252e-06	0.0001	9.23e-06	7.84e-06	3.349e-05	1.981e-05	0	0	0.0002	0.0001	0	0	8.094e-06	3.312e-05	0	3.284e-05	3.281e-05	3.856e-05	2.687e-05	0.0002	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0	0.0068	1.471e-05	0.0005	0.0002	1.0	0.00964	T	0.475	0.12526	T	0.0	0.02946	B	0.0	0.01387	B	0.850707	0.07056	N	1.064770	1	0.08975	N	-1.25	0.00764	N	1.62	0.28189	T	0.01	0.11728	N	0.026	0.02272	-1.0009	0.29660	T	0.023	0.09787	T	10	0.016160399	0.00340	T	0.008933	0.23535	T	0.021	0.04004	.	.	0.102598925029	0.09809	0.035788549952210376	0.03525	0.0513312634541	0.05647	0.294651567936	0.09606	T	0.103634	0.41247	T	-0.453326	0.01079	T	-0.788318	0.02211	T	0.0166590271508435	0.00425	T	0.362864	0.08399	T	0.03236061	0.03247	0.048025943	0.07045	0.03236061	0.03247	0.048025943	0.07044	-3.899	0.22768	T	.	.	0.047	0.00077	B	.;.;.;.;.	.;.;.;.;.	-0.038766	0.04024	0.922	0.060891861989756595	0.00019	0.04097	0.09562	N	AEFBCI	0.020434	0.00807	N	-1.36673557828273	0.02955	0.1312861	-1.2896947429811	0.04569	0.215807	0.0461090095403894	0.14677	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	0.841	0.18052	-0.132000	0.10446	.	.	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.2291:0.426:0.2734:0.0715	4.708	0.12239	806	0.43582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2134.33	74	chr2	151463700	.	T	C	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.538;DP=1405;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.554;SOR=0.558	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T,NEB:NM_001164507:exon174:c.G24520A:p.A8174T,NEB:NM_001164508:exon174:c.G24520A:p.A8174T,NEB:NM_001271208:exon175:c.G24625A:p.A8209T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	268544	Nemaline_myopathy_2|NEB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	2444.83	114	chr2	151494220	.	C	T	2444.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=815;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.492;SOR=0.679	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	17	0	2	0
chr2	151512812	151512812	A	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon133:c.T18128C:p.M6043T,NEB:NM_001164507:exon161:c.T23267C:p.M7756T,NEB:NM_001164508:exon161:c.T23267C:p.M7756T,NEB:NM_001271208:exon162:c.T23372C:p.M7791T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	177067	not_provided|not_specified|Nemaline_myopathy_2|NEB-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0265597914517	0.0015	0.000199681	0.0018	0.0002	0.0004	0	0	0.0026	0.0037	0.0017	0.0014424	223	154602	rs201767727	0.0015	0.0015	0.0014	0.0015	0.0042	0.0014	0.0014	0.0029	0.0024	0.0001	0.0006	0.0162	0	0.0002	0.0042	0.0013	0.0020	0.0014	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0009	0.0003	0	0.0003	0.0187	0	9.425e-05	0.0102	0.0011	0.0005	0.0014	0.268	0.16144	T	0.114	0.44905	T	0.996	0.68779	D	0.93	0.66466	D	0.000000	0.84330	D	0.085543	0.997174	0.43684	D	1.035	0.25616	L	0.9	0.45248	T	-2.57	0.55501	D	0.665	0.91276	-0.8362	0.52898	T	0.209	0.56812	T	10	0.0072886944	0.00166	T	0.02656	0.49457	D	0.219	0.51417	.	.	0.54294064856	0.53946	0.10906890648319095	0.10835	0.325890546285	0.34736	0.733500659466	0.72018	T	0.043184	0.44593	T	-0.255524	0.13429	T	-0.169898	0.57453	T	0.0353002263818053	0.02860	T	0.850515	0.68393	D	0.46223137	0.64809	0.41840926	0.65866	0.42844704	0.62651	0.43272364	0.66849	-2.703	0.09632	T	.	.	0.272	0.50572	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.649817	0.51790	23.1	0.94645462078591625	0.25246	0.95120	0.63511	D	AEFBI	0.755140	0.69480	D	0.317342865222644	0.57037	3.869821	0.430055078599464	0.63447	4.578478	0.976110644675405	0.29695	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.72	5.72	0.89380	5.192000	0.64953	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.299	0.82622	856	0.34373	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	1540.33	34	chr2	151512812	.	A	G	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.123;DP=782;ExcessHet=0;FS=6.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.379;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	18	0	1	0
chr2	151534291	151534291	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon115:c.G16202A:p.R5401Q,NEB:NM_001164507:exon143:c.G21341A:p.R7114Q,NEB:NM_001271208:exon143:c.G21341A:p.R7114Q	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	284387	Inborn_genetic_diseases|Nemaline_myopathy_2|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.0100182936567	8.2e-05	0.000199681	0.0002	0	0	0.0007	0.0002	0.0002	0	0.0004	0.0001876	29	154602	rs372284984	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	0	4.472e-05	0.0003	0.0011	0	0.0010	9.534e-05	8.283e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0012	7.088e-05	5.745e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0	0.0001	0	0.0012	0.386	0.10980	T	0.275	0.33000	T	0.796	0.44790	P	0.227	0.38084	B	0.021149	0.26891	N	0.431390	1	0.81001	D	0.345	0.11182	N	1.01	0.41058	T	-0.8	0.22078	N	0.403	0.51405	-1.0868	0.06084	T	0.053	0.22462	T	10	0.029992968	0.01126	T	0.010018	0.26057	T	0.092	0.26621	.	.	0.459370960843	0.45562	0.07073201283251092	0.07010	.	.	0.387763917446	0.23355	T	0.014633	0.47444	T	-0.367109	0.03742	T	-0.435102	0.29358	T	0.0430038199674423	0.04238	T	0.663534	0.62070	T	0.0820836	0.18893	0.04689621	0.06637	0.0820836	0.18892	0.04689621	0.06636	-2.062	0.04457	T	.	.	0.106	0.19679	B	.;.;.;.;.;.	.;.;.;.;.;.	2.349094	0.30116	18.34	0.99654143081716018	0.77505	0.80145	0.39861	D	AEFI	0.155816	0.28107	N	0.177651171713481	0.50128	3.205731	0.31755268110024	0.56572	3.820601	0.00890022465600196	0.11760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	1.872000	0.39185	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1695:0.6858:0.0:0.1447	6.113	0.19333	897	0.25382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1366.33	33	chr2	151534291	.	C	T	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.305;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	18	0	1	0
chr2	151569306	151569306	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon82:c.G12358A:p.V4120I,NEB:NM_001164507:exon110:c.G17497A:p.V5833I,NEB:NM_001164508:exon110:c.G17497A:p.V5833I,NEB:NM_001271208:exon110:c.G17497A:p.V5833I	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	246899	not_provided|not_specified|Nemaline_myopathy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0103385765401	0.0016	0.00139776	0.0023	0.0006	0.0013	0.0001	0.0003	0.0021	0.0033	0.0065	0.0021733	336	154602	rs149881695	0.0029	0.0029	0.0028	0.0031	0.0059	0.0028	0.0028	0.0055	0.0053	0.0007	0.0013	0.0026	2.52e-05	0.0003	0.0043	0.0030	0.0038	0.0059	0.0020	0.0020	0.0022	0.0019	0.0056	0.0018	0.0018	0.0040	0.0034	0.0006	0	0.0035	0.0023	0.0002	0.0008	0	0.0027	0.0014	0.0056	0.064	0.36509	T	0.15	0.42614	T	0.539	0.37887	P	0.089	0.29769	B	0.000001	0.62929	D	0.056646	0.99658	0.43291	D	1.295	0.32453	L	3.2	0.08460	T	-0.51	0.18042	N	0.207	0.22998	-1.1350	0.01557	T	0.042	0.17952	T	10	0.0064363778	0.00146	T	0.010339	0.26763	T	0.105	0.29889	.	.	0.438593652726	0.43481	0.559535376864877	0.55880	0.0936402175111	0.10581	0.454801738262	0.32600	T	0.012825	0.46095	T	-0.487416	0.00671	T	-0.470859	0.25423	T	0.0124948242847624	0.00206	T	0.840916	0.55818	T	0.10451197	0.24706	0.0737715	0.16066	0.123301886	0.28955	0.09899753	0.23622	-3.052	0.10752	T	.	.	0.098	0.16187	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.639750	0.51603	23.1	0.99699367962171559	0.80522	0.88989	0.49193	D	AEFDGBHCI	0.343142	0.43906	N	0.272465036355448	0.54758	3.640623	0.355315102796979	0.58829	4.055963	0.999995088601413	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	2.547000	0.45446	.	.	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.489000	0.28769	0.0:0.9297:0.0:0.0703	14.783	0.69408	903	0.23940	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.007576	0.02632	2483.33	43	chr2	151569306	.	C	T	2483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.009;SOR=0.681	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr2	151609937	151609937	A	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon77:c.T11437A:p.L3813M,NEB:NM_001164507:exon81:c.T12202A:p.L4068M,NEB:NM_001164508:exon81:c.T12202A:p.L4068M,NEB:NM_001271208:exon81:c.T12202A:p.L4068M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0173036490897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.29688	T	0.196	0.27943	T	0.352	0.33688	B	0.24	0.38599	B	0.166795	0.17494	N	0.591503	0.999993	0.21331	N	2.28	0.64929	M	1.44	0.32722	T	-0.02	0.09627	N	0.372	0.47672	-1.0492	0.14621	T	0.078	0.31224	T	10	0.19662213	0.35561	T	0.017304	0.38942	T	0.125	0.34456	0.418	0.45873	0.277730125212	0.27379	0.07964451616888829	0.07899	0.191294756893	0.21457	0.353399753571	0.18422	T	0.014686	0.45350	T	-0.135701	0.30575	T	-0.432701	0.29629	T	0.233373478055	0.22111	T	0.710029	0.37500	T	0.07177624	0.15916	0.067636274	0.14018	0.07177624	0.15916	0.067636274	0.14017	-5.87	0.45178	T	.	.	0.114	0.22644	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.988491	0.13663	10.20	0.97637124474202441	0.35057	0.38465	0.25994	N	AEFBI	0.233654	0.35654	N	-0.487224553010629	0.22499	1.201773	-0.532605383355155	0.21270	1.149837	0.144287950142019	0.17330	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	-1.67	0.07798	0.088000	0.14821	.	.	0.756000	0.94297	0.001000	0.13787	0.834000	0.27239	0.999000	0.91618	0.251:0.6224:0.1266:0.0	11.394	0.49071	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2168.33	40	chr2	151609937	.	A	T	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.137;DP=809;ExcessHet=0;FS=10.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.244;SOR=1.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr2	151627174	151627174	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon66:c.G9410A:p.R3137K,NEB:NM_001164507:exon70:c.G10175A:p.R3392K,NEB:NM_001164508:exon70:c.G10175A:p.R3392K,NEB:NM_001271208:exon70:c.G10175A:p.R3392K	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1319694	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.00352823173859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.937	0.14284	T	0.0	0.02946	B	0.001	0.04355	B	0.007913	0.31126	N	0.386726	0.99989	0.19853	N	-0.205	0.04094	N	1.91	0.23283	T	-0.13	0.17417	N	0.154	0.27673	-1.0400	0.17313	T	0.029	0.12322	T	10	0.08949089	0.15507	T	0.003528	0.08031	T	0.231	0.53208	0.517	0.61763	0.101711395817	0.09552	0.3847595080248362	0.38390	0.0537011207665	0.05932	0.212492972612	0.00922	T	0.013475	0.36102	T	-0.215686	0.18586	T	-0.547594	0.17557	T	0.308101862668991	0.25336	T	0.728927	0.34400	T	0.05885054	0.11889	0.06912546	0.14524	0.05885054	0.11888	0.06912546	0.14524	-2.554	0.34145	T	.	.	0.067	0.02370	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.438404	0.08085	4.812	0.73877803797597175	0.10488	0.03911	0.09294	N	AEFGBI	0.086413	0.17520	N	-1.08524654758605	0.06915	0.3196804	-0.948620839807185	0.10955	0.5551389	0.352621722054533	0.19698	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	0.491	0.16076	-2.028000	0.01519	.	.	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.6111:0.0:0.3889	10.962	0.46602	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2363.33	34	chr2	151627174	.	C	T	2363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.629;DP=830;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.321;SOR=0.842	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	151644012	151644012	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon57:c.G7762A:p.E2588K,NEB:NM_001164508:exon57:c.G7762A:p.E2588K,NEB:NM_001271208:exon57:c.G7762A:p.E2588K,NEB:NM_004543:exon57:c.G7762A:p.E2588K	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1489526	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0342531894103	.	.	8.28e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756738995	1.368e-05	1.368e-05	5.445e-06	2.2e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.349e-05	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.40319	T	0.155	0.46862	T	0.996	0.68779	D	0.966	0.71341	D	0.000087	0.51296	D	0.135373	0.621288	0.33104	D	2.265	0.64440	M	1.4	0.33630	T	-1.35	0.33598	N	0.655	0.75192	-0.9890	0.32853	T	0.181	0.52828	T	10	0.6425734	0.69142	D	0.034253	0.55552	D	0.145	0.38592	0.419	0.46036	0.625697750477	0.62264	0.3299478989436322	0.32907	0.343060986304	0.36237	0.834486484528	0.87251	D	0.031033	0.34577	T	-0.0663955	0.41903	T	-0.333149	0.41118	T	0.83282894735296	0.48751	D	0.938006	0.84427	D	0.25442928	0.48471	0.20080738	0.44030	0.25442928	0.48471	0.20080738	0.44029	-10.779	0.78466	D	.	.	0.38	0.58428	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.939433	0.57636	23.9	0.99892568489608768	0.96666	0.98274	0.81158	D	AEFBI	0.582233	0.58193	D	0.638435063578069	0.75622	6.33866	0.665017706891758	0.79735	7.145255	0.991630786627596	0.32556	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	2.979000	0.49004	.	.	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	19.876	0.96868	886	0.28090	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4698.33	36	chr2	151644012	.	C	T	4698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.43;DP=1052;ExcessHet=0;FS=3.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=0.927;QD=12.7;ReadPosRankSum=0.004;SOR=0.882	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1460	18	0	1	0
chr2	151662338	151662338	G	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon46:c.C5767G:p.Q1923E,NEB:NM_001164508:exon46:c.C5767G:p.Q1923E,NEB:NM_001271208:exon46:c.C5767G:p.Q1923E,NEB:NM_004543:exon46:c.C5767G:p.Q1923E	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	4	1515	3	0	0	3	0.00098912	.	.	YES	1414833	Nemaline_myopathy_2|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00838163311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03227	T	1.0	0.07105	T	0.022	0.18677	B	0.058	0.26451	B	0.008194	0.30970	N	0.349225	0.99981	0.23019	N	1.435	0.35949	L	0.98	0.42122	T	-1.22	0.30964	N	0.304	0.34336	-1.0648	0.10596	T	0.068	0.27879	T	10	0.18605113	0.34052	T	0.008382	0.22181	T	0.109	0.30843	0.547	0.66156	0.422040124859	0.41822	0.469396120583915	0.46858	0.0549889752522	0.06090	0.534501492977	0.43668	T	0.020488	0.42827	T	-0.215693	0.18584	T	-0.547604	0.17555	T	0.253146350383759	0.23013	T	0.480552	0.47714	T	0.19070755	0.40667	0.21050718	0.45440	0.19070755	0.40667	0.21050718	0.45439	-2.102	0.03593	T	.	.	0.074	0.05017	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.602376	0.33784	19.44	0.93255477254859886	0.22947	0.89259	0.49616	D	AEFBI	0.252669	0.37231	N	-0.37466164634543	0.26375	1.438976	-0.145781260810442	0.33570	1.921731	0.997396438077351	0.35572	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.86	4.98	0.65679	1.902000	0.39479	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:0.2587:0.7413:0.0	15.687	0.77178	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	332.33	22	chr2	151662338	.	G	C	332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.665;SOR=0.999	GT:AD:DP:GQ:PL	0/0:38,0:38:96:0,96,1440	18	0	1	0
chr2	151675340	151675340	G	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon35:c.C3826A:p.P1276T,NEB:NM_001164508:exon35:c.C3826A:p.P1276T,NEB:NM_001271208:exon35:c.C3826A:p.P1276T,NEB:NM_004543:exon35:c.C3826A:p.P1276T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	284423	Nemaline_myopathy_2|not_provided	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0035	0.00419329	0.0021	0.0159	0.0043	0	0	8.847e-05	0.0026	0.0002	0.0009573	148	154602	rs34234609	0.0004	0.0004	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0017	0	0	1.903e-05	0.0021	8.628e-05	0.0011	9.655e-05	0.0031	0.0031	0.0034	0.0027	0.0100	0.0028	0.0028	0.0092	0.0089	0.0100	0	0.0024	0	0	9.43e-05	0	4.41e-05	0.0061	0	0.006	0.61437	D	0.111	0.37173	T	0.006	0.13644	B	0.008	0.13708	B	0.000234	0.47286	D	0.187235	0.98816	0.40715	D	1.4	0.35362	L	3.43	0.05507	T	-3.07	0.65512	D	0.567	0.59648	-1.0607	0.11582	T	0.011	0.03903	T	10	0.010675013	0.00237	T	.	.	.	0.129	0.35316	.	.	0.345405024496	0.34151	0.2459255158347204	0.24506	0.0710384528649	0.07961	0.452746778727	0.32319	T	0.096207	0.79748	T	-0.474564	0.00796	T	-0.447916	0.27928	T	0.0392625124445558	0.03557	T	0.862114	0.61048	D	0.27271038	0.50340	0.20423855	0.44538	0.27271038	0.50340	0.20423855	0.44537	-5.408	0.40996	T	.	.	0.077	0.06571	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.293458	0.29342	18.09	0.9968200150175619	0.79307	0.93037	0.57167	D	AEFBI	0.478120	0.52082	N	-0.14743251378333	0.35344	2.028917	0.0121332382143204	0.40278	2.401168	0.998962424580636	0.38084	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	4.6	0.56512	2.349000	0.43710	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0833:0.0:0.9167:0.0	12.054	0.52819	859	0.33891	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008569	0.000000	0.014946	0.014706	0.000000	0.008621	0.000000	0.000000	0.02632	915.33	33	chr2	151675340	.	G	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=788;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.068;SOR=0.817	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,23:152:37:.:.:0,37,3089:.	12	0	6	1
chr2	151687483	151687483	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon27:c.C2573T:p.A858V,NEB:NM_001164508:exon27:c.C2573T:p.A858V,NEB:NM_001271208:exon27:c.C2573T:p.A858V,NEB:NM_004543:exon27:c.C2573T:p.A858V	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	268543	Inborn_genetic_diseases|Nemaline_myopathy_2|NEB-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0298449609549	8.1e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs372217127	8.62e-05	8.619e-05	8.713e-05	8.527e-05	0.0014	7.354e-05	6.904e-05	0.0007	0.0005	2.987e-05	8.945e-05	0.0021	0	0	0.0014	4.137e-05	0.0002	2.319e-05	8.546e-05	8.538e-05	6.426e-05	0.0001	0.0002	4.959e-05	3.964e-05	5.291e-05	2.836e-05	0	0	0.0002	0.0014	0	0	0	7.351e-05	0	0	0.358	0.40832	T	0.059	0.54159	T	0.621	0.39935	P	0.161	0.34794	B	0.000167	0.48594	N	0.176984	0.897018	0.38620	D	1.155	0.29575	L	3.3	0.06368	T	-1.53	0.39314	N	0.688	0.78072	-0.8385	0.52746	T	0.013	0.04938	T	10	0.13296977	0.25307	T	0.029845	0.52278	D	0.131	0.35738	.	.	0.439551795455	0.43578	0.21115558175969198	0.21031	0.288151895696	0.31219	0.546998202801	0.45433	T	0.027969	0.49585	T	-0.322218	0.06718	T	-0.452312	0.27441	T	0.122277095913887	0.14651	T	0.690331	0.38410	T	0.11576778	0.27314	0.14576612	0.34559	0.11576778	0.27314	0.14576612	0.34559	-1.662	0.02131	T	.	.	0.299	0.52905	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.446149	0.47969	22.5	0.72919763062883725	0.10143	0.96854	0.71299	D	AEFGBI	0.804499	0.72934	D	0.093954758176261	0.46180	2.862468	0.230024200417197	0.51521	3.333924	0.999999276966114	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.54	4.67	0.58089	5.419000	0.66174	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0779:0.0:0.922:0.0	13.173	0.59033	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2144.33	33	chr2	151687483	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=796;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.73;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	151725500	151725500	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon6:c.A355G:p.T119A,NEB:NM_001164508:exon6:c.A355G:p.T119A,NEB:NM_001271208:exon6:c.A355G:p.T119A,NEB:NM_004543:exon6:c.A355G:p.T119A	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	628676	Nemaline_myopathy_2|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.263	0.0255515818936	0.0002	0.000798722	0.0003	0.0001	0	0	0	0.0001	0	0.0018	0.0003105	48	154602	rs182207224	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0001	0.0015	0.0014	0	4.473e-05	0	0	0	0.0005	7.826e-05	0.0002	0.0017	0.0001	0.0001	0.0001	0.0002	0.0021	9.739e-05	8.254e-05	0.0011	0.0009	2.406e-05	0	0	0	0	0	0	0.0001	0.0005	0.0021	0.108	0.29420	T	0.0	0.92824	D	0.62	0.39915	P	0.37	0.43538	B	0.000001	0.62929	D	0.056778	0.585571	0.39155	D	2.085	0.57729	M	0.28	0.59037	T	-1.74	0.49352	N	0.688	0.69387	-0.6508	0.62679	T	0.268	0.63908	T	10	0.033915758	0.01582	T	0.025552	0.48513	D	0.263	0.57612	.	.	0.59817006922	0.59497	0.4061082607670968	0.40526	0.171380258948	0.19308	0.534846782684	0.43716	T	0.04676	0.36543	T	-0.297086	0.08938	T	-0.21275	0.53433	T	0.0632435179960832	0.07669	T	0.887611	0.61827	D	0.22659773	0.45344	0.20540711	0.44709	0.22659773	0.45344	0.20540711	0.44708	-7.331	0.56415	T	.	.	0.267	0.50129	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.884650	0.56480	23.7	0.99044079715126054	0.51095	0.98080	0.79428	D	AEFBI	0.885182	0.81548	D	0.489345847538413	0.66466	4.953805	0.571270470742281	0.72887	5.881555	0.999999999986384	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.17	6.17	0.99707	7.488000	0.80254	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.822	0.85699	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	38	chr2	151725500	.	T	C	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.603;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.629;SOR=0.659	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	18	0	1	0
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.88	18	chr2	151812356	.	C	G	46.88	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.325;DP=405;ExcessHet=0.4139;FS=246.399;InbreedingCoeff=-0.0268;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.371;SOR=7.378	GT:AD:DP:GQ:PL	0/0:13,4:17:8:0,8,178	12	0	3	4
chr2	152099004	152099004	G	A	exonic	CACNB4	.	nonsynonymous SNV	CACNB4:NM_000726:exon1:c.C8T:p.S3F,CACNB4:NM_001145798:exon1:c.C8T:p.S3F	Episodic ataxia, type 5, Autosomal dominant	8	1509	5	0	0	5	0.00165399	.	.	.	201270	Episodic_ataxia_type_5|not_specified|Idiopathic_generalized_epilepsy|Juvenile_myoclonic_epilepsy|not_provided	MONDO:MONDO:0013464,MedGen:C1866039,OMIM:613855,Orphanet:211067|MedGen:CN169374|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	.	.	0.000199681	0.0005	0	0.0028	0	0	0.0008	0	0.0003	8.41e-05	13	154602	rs542973906	0.0003	0.0003	0.0003	0.0003	0.0020	0.0003	0.0003	0.0010	0.0008	3.301e-05	3.263e-05	0.0004	0	0.0001	0.0020	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0005	0.0004	4.812e-05	0	0	0	0	9.414e-05	0	0.0004	0	0.0012	0.055	0.39334	T	0.12	0.35970	T	0.418	0.35279	B	0.064	0.27215	B	0.007433	0.01168	N	3.060610	0.775345	0.29392	N	-0.345	0.03330	N	-0.67	0.72458	T	-0.22	0.10480	N	0.373	0.41459	-0.8741	0.50219	T	0.156	0.48755	T	10	0.02147293	0.00514	T	.	.	.	0.191	0.46948	.	.	0.852185675163	0.85076	0.3609376565164136	0.36007	0.789290064861	0.65692	0.668266534805	0.62590	T	0.070125	0.33882	T	-0.327231	0.06323	T	-0.387812	0.34808	T	0.108559037806583	0.13274	T	0.585741	0.21356	T	0.114753544	0.27088	0.19987255	0.43890	0.114753544	0.27088	0.19987255	0.43889	-5.496	0.42646	T	.	.	0.115	0.29697	B	.;.;.;.	.;.;.;.	3.402489	0.47165	22.4	0.98812170405043209	0.46639	0.81392	0.40805	D	AEFDGBHCI	0.255994	0.37500	N	-0.237185257389327	0.31618	1.77472	-0.0670093914428873	0.36763	2.143657	0.999999998431601	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.4	3.5	0.39181	0.931000	0.28471	6.278000	0.55377	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.1114:0.0:0.8886:0.0	8.630	0.33074	661	0.61838	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	20	chr2	152099004	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.236;DP=680;ExcessHet=0;FS=3.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.227;SOR=0.306	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1011	18	0	1	0
chr2	152607411	152607411	A	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon10:c.A949G:p.M317V	.	469	1052	1	0	0	1	0.000475059	0.2688	0.436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0581284884376	.	.	9.701e-06	0	0	0	0	1.754e-05	0	0	6.5e-06	1	154602	rs778481687	2.743e-06	2.736e-06	2.728e-06	2.757e-06	2.991e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.991e-05	0	0	0	0	0	2.703e-06	0	0	6.583e-06	6.573e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.002	0.72154	D	0.043	0.49942	D	0.102	0.25827	B	0.054	0.25828	B	0.000000	0.84330	D	0.068519	1	0.81001	D	3.31	0.90591	M	-1.69	0.82985	D	-3.39	0.66896	D	0.834	0.82964	-0.1741	0.78328	T	0.518	0.81980	D	10	0.6705427	0.70686	D	0.058128	0.67208	D	0.560	0.81946	0.648	0.78542	0.648762833658	0.64584	0.6191195858179608	0.61844	0.448017709294	0.44648	0.85267573595	0.90017	D	.	.	.	0.261224	0.79642	D	0.152939	0.80371	D	0.775899291038513	0.44797	D	0.972403	0.89999	D	.	.	.	.	.	.	.	.	-13.167	0.90039	D	.	.	0.596	0.68719	P	.	.	4.243177	0.64354	24.7	0.9834345847763275	0.40467	0.97480	0.75020	D	AEBI	0.852327	0.76923	D	0.185578249716742	0.50506	3.240008	0.338818474378577	0.57838	3.951067	0.999998675188107	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	5.237000	0.65185	9.340000	0.80208	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.021	0.80294	316	0.87161	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	502.33	34	chr2	152607411	.	A	G	502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.185;DP=705;ExcessHet=0;FS=6.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-0.956;SOR=1.19	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	18	0	1	0
chr2	152636543	152636545	AAT	-	exonic	FMNL2	.	nonframeshift deletion	FMNL2:NM_052905:exon22:c.2797_2799del:p.N933del	.	417	1100	4	1	0	6	0.00271985	.	.	.	3500740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0032	0.00139776	0.0040	0.0017	0.0020	0	0.0045	0.0049	0.0087	0.0039	0.0002305	6	26028	rs563346055	0.0035	0.0034	0.0035	0.0034	0.0040	0.0034	0.0033	0.0039	0.0038	0.0004	0.0010	0.0002	0	0.0034	0.0021	0.0040	0.0028	0.0024	0.0021	0.0021	0.0021	0.0020	0.0033	0.0019	0.0018	0.0029	0.0028	0.0006	0	0.0014	0	0	0.0028	0.0034	0.0033	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1376.29	40	chr2	152636542	.	CAAT	C	1376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=791;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.105;SOR=0.601	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	152647886	152647886	G	A	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon26:c.G3260A:p.G1087D	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0294165265723	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001682	26	154602	rs368904283	0.0001	0.0001	8.716e-05	0.0001	0.0016	9.878e-05	9.287e-05	0.0008	0.0006	0	0	0	0	9.373e-05	0.0016	8.907e-05	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	2.405e-05	0	0	0	0	0	0.0136	0.0001	0.0005	0.0008	0.045	0.40832	D	0.769	0.04492	T	0.419	0.35307	B	0.168	0.35187	B	.	.	.	.	0.966669	0.81001	D	.	.	.	-0.95	0.75438	T	0.86	0.01712	N	0.298	0.33687	-0.7084	0.60031	T	0.210	0.56946	T	9	0.062619686	0.08035	T	0.029417	0.51930	D	0.385	0.70194	.	.	0.260580752073	0.25663	0.5642980615919432	0.56356	0.444287325335	0.44339	0.62017673254	0.55755	T	.	.	.	-0.254518	0.13550	T	-0.24589	0.50223	T	0.0644711056208471	0.07853	T	0.770923	0.40135	T	.	.	.	.	.	.	.	.	-3.095	0.11239	T	.	.	0.396	0.59341	A	.	.	3.309208	0.45458	22.1	0.9846106724654361	0.41745	0.89244	0.49592	D	AEFDGBCI	0.606107	0.59657	D	0.11596065551476	0.47207	2.949683	0.335135366100619	0.57616	3.928047	0.999999999227754	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.741806	0.99463	0	.	.	6.04	6.04	0.98025	5.226000	0.65129	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.589	0.99430	325	0.86759	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1958.33	33	chr2	152647886	.	G	A	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.59;DP=765;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.574;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1344	18	0	1	0
chr2	156571251	156571251	C	G	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon13:c.C1726G:p.L576V,GPD2:NM_001083112:exon13:c.C1726G:p.L576V	.	.	.	.	.	.	.	.	.	.	.	3199530	GPD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00700418466134	0.0022	0.000998403	0.0006	0.0066	0.0002	0	0	0	0	0	0.0005175	80	154602	rs116790305	0.0002	0.0002	0.0002	0.0002	0.0058	0.0001	0.0001	0.0051	0.0049	0.0058	0.0002	0	0	0	0	1.08e-05	0.0003	1.161e-05	0.0016	0.0016	0.0015	0.0017	0.0056	0.0014	0.0014	0.0050	0.0048	0.0056	0	0.0002	0	0	0	0	1.47e-05	0.0014	0.0002	0.158	0.23905	T	0.192	0.28300	T	0.001	0.07471	B	0.008	0.13708	B	0.000001	0.62929	D	0.051659	0.977468	0.81001	D	1.385	0.34509	L	0.69	0.51714	T	0.32	0.03955	N	0.352	0.39457	-1.0513	0.14036	T	0.066	0.27087	T	10	0.006027341	0.00135	T	0.007004	0.18541	T	0.070	0.20419	.	.	0.647759520205	0.64484	0.5772806217060202	0.57657	0.235179819059	0.26047	0.67937785387	0.64179	T	0.09952	0.40442	T	-0.425551	0.01578	T	-0.381301	0.35571	T	0.0219124325408378	0.00899	T	0.985721	0.95129	D	0.10381369	0.24539	0.10759322	0.25905	0.10381369	0.24538	0.10759322	0.25904	-2.631	0.06742	T	.	.	0.106	0.19639	B	.;.;.;.	.;.;.;.	2.339699	0.29980	18.30	0.99004826052557415	0.50231	0.89799	0.50500	D	AEFBI	0.400176	0.47516	N	-0.175584066309398	0.34153	1.945986	-0.0170191989273381	0.38946	2.301905	0.146016325792606	0.17359	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	6.06	3.15	0.35301	2.880000	0.48228	-0.705000	0.07776	0.599000	0.40250	0.996000	0.39380	0.000000	0.08366	0.997000	0.79791	0.2703:0.5746:0.0:0.155	6.023	0.18869	872	0.31118	Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1128.33	36	chr2	156571251	.	C	G	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=790;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.21;SOR=0.796	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,108,1620	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:112,53:165:99:173,0,2103	8	0	9	2
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.1053	3819.41	41	chr2	157799450	.	G	C	3819.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.235;DP=846;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-1.396;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1324	16	1	2	0
chr2	158176648	158176648	G	A	exonic	CCDC148	.	nonsynonymous SNV	CCDC148:NM_001301684:exon11:c.C1064T:p.A355V,CCDC148:NM_138803:exon13:c.C1502T:p.A501V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0236221424967	0.0005	0.000399361	0.0001	0.0009	0.0003	0	0	0	0	0	9.06e-05	14	154602	rs143639142	4.865e-05	4.925e-05	5.59e-05	4.132e-05	0.0018	3.932e-05	3.61e-05	0.0014	0.0013	0.0018	0.0001	0	0	0	0	0	4.98e-05	2.323e-05	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.471e-05	0	0	0.591	0.08335	T	0.149	0.32891	T	0.087	0.24971	B	0.137	0.33328	B	.	.	.	.	0.965754	0.38487	D	1.63	0.41750	L	1.86	0.24285	T	-0.45	0.14782	N	0.311	0.36884	-1.0873	0.05995	T	0.034	0.14683	T	9	0.028595686	0.00990	T	0.023622	0.46588	T	0.138	0.37187	.	.	0.272205846399	0.26826	0.25754285690520845	0.25668	0.0651090913709	0.07273	0.482539623976	0.36407	T	0.020892	0.16365	T	-0.393588	0.02550	T	-0.388579	0.34719	T	0.0935564566175851	0.11633	T	0.79652	0.44001	T	0.05095913	0.09288	0.10420765	0.25022	0.05095913	0.09287	0.10420765	0.25021	-5.403	0.40948	T	.	.	0.134	0.29060	B	.;.	.;.	4.062945	0.60307	24.2	0.98212756978089988	0.39228	0.92064	0.54865	D	AEFI	0.626877	0.60954	D	-0.294283255990514	0.29369	1.628008	-0.0559161082975334	0.37235	2.177434	0.787857553132395	0.23962	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.82	4.94	0.64645	5.478000	0.66531	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0763:0.0:0.9237:0.0	13.329	0.59912	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	33	chr2	158176648	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=702;ExcessHet=0;FS=3.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.706;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr2	158345242	158345242	T	G	exonic	CCDC148	.	nonsynonymous SNV	CCDC148:NM_001301685:exon3:c.A224C:p.Q75P,CCDC148:NM_138803:exon3:c.A224C:p.Q75P	.	.	.	.	.	.	.	.	.	.	.	697096	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.221	.	.	0.0071885	0.0020	0.0229	0.0007	0	0	0	0	0	0.0019211	297	154602	rs4664950	0.0006	0.0006	0.0006	0.0005	0.0216	0.0006	0.0005	0.0203	0.0198	0.0216	0.0008	0	0	0	0.0002	2.519e-05	0.0012	3.48e-05	0.0064	0.0065	0.0071	0.0058	0.0224	0.0061	0.0060	0.0212	0.0208	0.0224	0	0.0021	0	0	0	0	8.823e-05	0.0052	0	0.019	0.61437	D	0.019	0.60972	D	0.997	0.70673	D	0.931	0.66596	D	.	.	.	.	0.943355	0.81001	D	2.39	0.68882	M	0.78	0.49358	T	-2.05	0.63901	N	0.67	0.72477	-0.5409	0.67129	T	0.266	0.63727	T	9	0.011478305	0.00251	T	.	.	.	0.221	0.51721	.	.	0.574465425021	0.57114	0.3899274742961576	0.38907	0.0473126783939	0.05155	0.361320465803	0.19579	T	0.026905	0.19814	T	-0.231459	0.16456	T	-0.0876659	0.64338	T	0.0274502270175645	0.01609	T	0.807119	0.45664	T	0.4214618	0.62189	0.42707235	0.66464	0.4214618	0.62190	0.42707235	0.66464	-5.669	0.44022	T	.	.	0.434	0.66407	A	.;.;.	.;.;.	3.667194	0.52131	23.2	0.99481891628277819	0.66959	0.87111	0.46553	D	AEFDGI	0.362749	0.45189	N	0.644660167200652	0.76024	6.410661	0.637057402361705	0.77651	6.720433	0.0834629968015133	0.15929	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	1.859000	0.39058	.	.	0.665000	0.62972	0.996000	0.39380	0.986000	0.30841	0.995000	0.73285	0.0:0.0:0.0:1.0	12.693	0.56355	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	5115.85	258	chr2	158345242	.	T	G	5115.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.113;DP=1107;ExcessHet=0.119;FS=1.102;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.37;SOR=0.582	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	158603089	158603089	C	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon4:c.C265T:p.P89S,PKP4:NM_001304969:exon4:c.C265T:p.P89S,PKP4:NM_001304971:exon4:c.C265T:p.P89S,PKP4:NM_001377218:exon4:c.C265T:p.P89S,PKP4:NM_001377219:exon4:c.C265T:p.P89S,PKP4:NM_001377222:exon4:c.C265T:p.P89S,PKP4:NM_001377223:exon4:c.C265T:p.P89S,PKP4:NM_001377224:exon4:c.C265T:p.P89S,PKP4:NM_001377225:exon4:c.C265T:p.P89S,PKP4:NM_001377226:exon4:c.C265T:p.P89S,PKP4:NM_003628:exon4:c.C265T:p.P89S,PKP4:NM_001377220:exon5:c.C265T:p.P89S,PKP4:NM_001377221:exon5:c.C265T:p.P89S	.	633	882	6	1	0	8	0.00451467	.	.	.	2470579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0435778561471	0.0004	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0056	0.0084	0.0014165	219	154602	rs141436976	0.0007	0.0008	0.0005	0.0009	0.0070	0.0007	0.0007	0.0064	0.0062	0.0001	0.0005	0.0001	0	1.904e-05	0.0049	0.0004	0.0007	0.0070	0.0006	0.0006	0.0005	0.0006	0.0084	0.0005	0.0004	0.0063	0.0056	9.642e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0084	0.078	0.33923	T	0.166	0.30828	T	0.908	0.52883	P	0.436	0.45556	B	0.000008	0.62929	N	0.112285	0.999983	0.54805	D	1.95	0.52479	M	-0.75	0.73311	T	-1.2	0.30555	N	0.475	0.58543	-0.4954	0.68815	T	0.317	0.68682	T	10	0.010946542	0.00241	T	0.043578	0.61054	D	0.169	0.43123	.	.	0.828990981994	0.82737	0.5212918508278581	0.52052	0.476211014082	0.46760	0.647814512253	0.59675	T	0.086002	0.50565	T	-0.257897	0.13147	T	-0.137819	0.60307	T	0.0388773493468761	0.03488	T	0.959304	0.84657	D	0.08772303	0.20439	0.09836137	0.23446	0.08772303	0.20439	0.09836137	0.23445	-2.855	0.08701	T	.	.	0.200	0.42332	B	.;.;.	.;.;.	4.086204	0.60819	24.3	0.99780952648240284	0.86780	0.93711	0.58973	D	AEFBI	0.547813	0.56136	D	0.439731599507377	0.63623	4.599635	0.514351411168226	0.68954	5.291984	0.999999822605033	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	3.056000	0.49616	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.415	0.74680	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	293.33	48	chr2	158603089	.	C	T	293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=655;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-1.271;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	18	0	1	0
chr2	158625352	158625352	G	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon7:c.G1078T:p.D360Y,PKP4:NM_001304969:exon7:c.G1078T:p.D360Y,PKP4:NM_001304970:exon7:c.G52T:p.D18Y,PKP4:NM_001304971:exon7:c.G1078T:p.D360Y,PKP4:NM_001377218:exon7:c.G1078T:p.D360Y,PKP4:NM_001377219:exon7:c.G1078T:p.D360Y,PKP4:NM_001377222:exon7:c.G1072T:p.D358Y,PKP4:NM_001377223:exon7:c.G1072T:p.D358Y,PKP4:NM_001377224:exon7:c.G1072T:p.D358Y,PKP4:NM_001377225:exon7:c.G1078T:p.D360Y,PKP4:NM_001377226:exon7:c.G1078T:p.D360Y,PKP4:NM_003628:exon7:c.G1078T:p.D360Y,PKP4:NM_001377220:exon8:c.G1078T:p.D360Y,PKP4:NM_001377221:exon8:c.G1078T:p.D360Y	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0616727035755	.	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0055	0.0085	0.0013907	215	154602	rs147567711	0.0010	0.0010	0.0007	0.0013	0.0086	0.0010	0.0010	0.0080	0.0078	0.0002	0.0007	0.0002	0	1.872e-05	0.0055	0.0006	0.0009	0.0086	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	9.624e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0085	0.033	0.46910	D	0.576	0.15506	T	0.975	0.59353	D	0.814	0.58796	P	0.003865	0.34390	N	0.327328	0.999975	0.53665	D	1.7	0.43825	L	-0.83	0.74159	T	-1.66	0.39692	N	0.804	0.80572	-0.1334	0.79322	T	0.457	0.78854	T	10	0.015235871	0.00320	T	0.061673	0.68408	D	0.384	0.70112	.	.	0.824951134962	0.82329	0.5963781270473225	0.59567	0.595986134547	0.54857	0.654217720032	0.60585	T	0.071874	0.44089	T	-0.1437	0.29302	T	0.0282004	0.72161	D	0.0424957916180826	0.04145	T	0.958004	0.84234	D	0.18200856	0.39398	0.1365738	0.32668	0.18200856	0.39398	0.1365738	0.32667	-2.286	0.05410	T	.	.	0.502	0.64763	A	.;.;.	.;.;.	4.888369	0.80238	27.3	0.99425511164952263	0.63984	0.97369	0.74314	D	AEFDBI	0.787538	0.71729	D	0.56631309840315	0.71080	5.597006	0.585167556103316	0.73877	6.042719	0.998662664791023	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	4.8	0.61157	6.840000	0.75163	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0684:0.0:0.9316:0.0	15.06	0.71611	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2717.33	171	chr2	158625352	.	G	T	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=799;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.03;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1170:.	18	0	1	0
chr2	158625353	158625353	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon7:c.A1079G:p.D360G,PKP4:NM_001304969:exon7:c.A1079G:p.D360G,PKP4:NM_001304970:exon7:c.A53G:p.D18G,PKP4:NM_001304971:exon7:c.A1079G:p.D360G,PKP4:NM_001377218:exon7:c.A1079G:p.D360G,PKP4:NM_001377219:exon7:c.A1079G:p.D360G,PKP4:NM_001377222:exon7:c.A1073G:p.D358G,PKP4:NM_001377223:exon7:c.A1073G:p.D358G,PKP4:NM_001377224:exon7:c.A1073G:p.D358G,PKP4:NM_001377225:exon7:c.A1079G:p.D360G,PKP4:NM_001377226:exon7:c.A1079G:p.D360G,PKP4:NM_003628:exon7:c.A1079G:p.D360G,PKP4:NM_001377220:exon8:c.A1079G:p.D360G,PKP4:NM_001377221:exon8:c.A1079G:p.D360G	.	433	1072	15	2	0	19	0.0087841	.	.	.	2470486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.0248247340476	.	0.000998403	0.0017	0	0.0011	0	0	0.0007	0.0055	0.0085	0.0013907	215	154602	rs147809285	0.0010	0.0010	0.0007	0.0013	0.0086	0.0010	0.0010	0.0080	0.0078	0.0002	0.0007	0.0002	0	1.872e-05	0.0055	0.0006	0.0009	0.0086	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	9.621e-05	0	0.0005	0.0003	0	0	0	0.0005	0.0005	0.0085	0.124	0.33091	T	0.563	0.09863	T	0.274	0.36905	B	0.173	0.35463	B	0.003865	0.34390	N	0.327328	0.999985	0.54805	D	1.7	0.43825	L	-0.81	0.73949	T	-0.78	0.21644	N	0.644	0.71055	-0.5475	0.66881	T	0.288	0.65958	T	10	0.008636117	0.00196	T	0.024825	0.47815	T	0.291	0.61040	.	.	0.683250482097	0.68055	0.510190951091813	0.50941	0.278459395054	0.30327	0.606106162071	0.53767	T	0.054141	0.38193	T	-0.186502	0.22773	T	-0.033282	0.68150	D	0.0764412397918313	0.09526	T	0.952705	0.81989	D	0.14982837	0.34139	0.15118317	0.35624	0.14982837	0.34139	0.15118317	0.35623	-1.787	0.02739	T	.	.	0.270	0.51437	B	.;.;.	.;.;.	3.982574	0.58557	24.0	0.98903222936065971	0.48235	0.98957	0.89158	D	AEFDBI	0.911614	0.87112	D	0.29493304526921	0.55891	3.753	0.442955629743591	0.64266	4.677847	0.999999968098423	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	8.377000	0.90032	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.215	0.82026	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2717.33	171	chr2	158625353	.	A	G	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=799;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.151;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1170:.	18	0	1	0
chr2	158662984	158662984	G	A	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon14:c.G2299A:p.E767K,PKP4:NM_001304969:exon14:c.G2296A:p.E766K,PKP4:NM_001304970:exon14:c.G1270A:p.E424K,PKP4:NM_001304971:exon14:c.G2299A:p.E767K,PKP4:NM_001377218:exon14:c.G2299A:p.E767K,PKP4:NM_001377219:exon14:c.G2296A:p.E766K,PKP4:NM_001377222:exon14:c.G2293A:p.E765K,PKP4:NM_001377223:exon14:c.G2293A:p.E765K,PKP4:NM_001377224:exon14:c.G2290A:p.E764K,PKP4:NM_001377225:exon14:c.G2299A:p.E767K,PKP4:NM_001377226:exon14:c.G2296A:p.E766K,PKP4:NM_003628:exon14:c.G2299A:p.E767K,PKP4:NM_001377220:exon15:c.G2296A:p.E766K,PKP4:NM_001377221:exon15:c.G2296A:p.E766K	.	.	.	.	.	.	.	.	.	.	.	1850880	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.564	0.0922048362961	0.0002	0.000199681	6.601e-05	0	0	0.0001	0	9.007e-05	0.0011	0	5.82e-05	9	154602	rs145132821	8.209e-05	8.209e-05	8.44e-05	7.976e-05	8.544e-05	7.002e-05	6.552e-05	7.135e-05	6.626e-05	5.974e-05	2.236e-05	0.0005	2.519e-05	0	0	8.544e-05	0.0001	0	8.544e-05	8.531e-05	7.715e-05	9.411e-05	0.0002	4.959e-05	3.964e-05	3.246e-05	1.912e-05	9.637e-05	0	0	0.0014	0.0002	0	0	4.412e-05	0	0	0.022	0.49613	D	0.054	0.49120	T	0.999	0.77913	D	0.87	0.61806	P	0.000013	0.62929	D	0.112090	1	0.81001	D	2.155	0.60227	M	-1.78	0.83737	D	-2.25	0.50337	N	0.839	0.83473	0.319	0.87861	D	0.641	0.87454	D	10	0.55679953	0.64563	D	0.092205	0.75849	D	0.564	0.82175	.	.	0.868592361541	0.86731	0.7081992436231779	0.70761	0.389420141229	0.40185	0.813383281231	0.84012	D	0.08753	0.58480	T	0.116813	0.66050	D	0.134568	0.79190	D	0.20302602648735	0.20581	T	0.983102	0.94506	D	0.21819709	0.44321	0.23631509	0.48899	0.21819709	0.44321	0.23631509	0.48898	-12.222	0.85916	D	.	.	0.265	0.63914	B	.;.;.	.;.;.	4.893486	0.80360	27.3	0.99935727356195192	0.99579	0.99455	0.96243	D	AEFDBI	0.921198	0.89430	D	0.60373551007317	0.73409	5.961662	0.605873239123616	0.75364	6.297776	0.999999999999987	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.739000	0.83905	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.091	0.97819	797	0.45241	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5169.81	35	chr2	158662984	.	G	A	5169.81	.	AC=2;AF=0.053;AN=38;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=0.995	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	18	1	0	0
chr2	159219340	159219340	G	C	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon18:c.G2878C:p.V960L,TANC1:NM_001350063:exon19:c.G3112C:p.V1038L,TANC1:NM_001145909:exon21:c.G3457C:p.V1153L,TANC1:NM_001350064:exon21:c.G3460C:p.V1154L,TANC1:NM_033394:exon21:c.G3481C:p.V1161L,TANC1:NM_001350065:exon22:c.G3460C:p.V1154L	.	.	.	.	.	.	.	.	.	.	.	2197254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.052258766431	.	.	2.484e-05	0	0	0.0001	0	0	0.0011	6.056e-05	1.94e-05	3	154602	rs375860483	2.121e-05	2.121e-05	1.77e-05	2.475e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0001	0	0	0	0.0003	0	0	3.597e-06	3.311e-05	0.0002	1.977e-05	1.97e-05	1.288e-05	2.699e-05	0.0002	5.26e-06	2.46e-06	.	.	0	0	0	0	0.0002	9.452e-05	0	1.474e-05	0	0	0.124	0.27426	T	0.221	0.25827	T	0.149	0.27956	B	0.102	0.30857	B	0.000003	0.62929	D	0.060077	1	0.81001	D	1.76	0.45711	L	-0.45	0.69896	T	-1.83	0.42957	N	0.784	0.78072	-0.2411	0.76597	T	0.433	0.77407	T	10	0.62863636	0.68388	D	0.052259	0.64996	D	0.437	0.74164	0.585	0.71245	0.681180290059	0.67846	0.5769769153119664	0.57626	0.420287518812	0.42557	0.656648695469	0.60930	T	0.206238	0.56553	T	0.0147451	0.53670	T	0.0478322	0.73440	D	0.303819212332143	0.25161	T	0.975102	0.91204	D	0.3283369	0.55334	0.27812198	0.53771	0.3283369	0.55334	0.27812198	0.53770	-8.882	0.66933	D	.	.	0.378	0.58298	A	.	.	4.555246	0.71734	25.7	0.99502358493110599	0.68089	0.99286	0.93967	D	AEFBI	0.924452	0.90251	D	0.517454198340813	0.68122	5.173955	0.596330252305967	0.74675	6.177748	0.999999999999994	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.667671	0.60360	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	10.003000	0.99689	9.996000	0.83014	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.000	0.92809	649	0.63102	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4135.81	35	chr2	159219340	.	G	C	4135.81	.	AC=2;AF=0.053;AN=38;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.1;SOR=1.455	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	18	1	0	0
chr2	159225745	159225745	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon21:c.A3266G:p.Q1089R,TANC1:NM_001350063:exon22:c.A3500G:p.Q1167R,TANC1:NM_001145909:exon24:c.A3845G:p.Q1282R,TANC1:NM_001350064:exon24:c.A3848G:p.Q1283R,TANC1:NM_033394:exon24:c.A3869G:p.Q1290R,TANC1:NM_001350065:exon25:c.A3848G:p.Q1283R	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0534964807248	0.0007	0.000798722	0.0018	0.0003	0.0028	0	0.0003	0.0013	0.0045	0.0056	0.0015847	245	154602	rs199615131	0.0011	0.0011	0.0009	0.0013	0.0066	0.0010	0.0010	0.0062	0.0060	0.0004	0.0018	0.0023	2.519e-05	9.36e-05	0.0019	0.0007	0.0020	0.0066	0.0007	0.0007	0.0007	0.0007	0.0052	0.0006	0.0006	0.0036	0.0031	9.62e-05	0	0.0012	0.0023	0	9.411e-05	0	0.0007	0.0009	0.0052	0.023	0.48186	D	0.145	0.33000	T	0.943	0.53072	P	0.811	0.58656	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.46	0.70014	T	-1.84	0.43149	N	0.61	0.62696	-0.1862	0.78024	T	0.442	0.78002	T	9	0.011367381	0.00249	T	0.053496	0.65491	D	0.530	0.80188	.	.	0.749038299637	0.74677	0.697122691076064	0.69653	0.46764219819	0.46137	0.793706059456	0.81006	T	0.185714	0.53878	T	-0.0687969	0.41519	T	0.130736	0.78940	D	0.0450868787807642	0.04617	T	0.854814	0.54193	D	0.37676585	0.59082	0.34330449	0.60044	0.37676585	0.59082	0.34330449	0.60044	-9.909	0.73365	D	.	.	0.244	0.47827	B	.	.	4.480025	0.69888	25.4	0.99865948305939289	0.94366	0.95888	0.66586	D	AEFDBHCI	0.939664	0.94057	D	0.695800779805498	0.79355	7.060656	0.718718804657128	0.83802	8.117907	1.0	0.98316	0.714207	0.82060	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.63	5.63	0.86108	9.205000	0.94181	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.832	0.78541	651	0.62880	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	682.33	33	chr2	159225745	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.531;DP=721;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.278;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	159229661	159229661	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.G3632A:p.R1211H,TANC1:NM_001350063:exon25:c.G3866A:p.R1289H,TANC1:NM_001350064:exon27:c.G4214A:p.R1405H,TANC1:NM_033394:exon27:c.G4235A:p.R1412H,TANC1:NM_001350065:exon28:c.G4214A:p.R1405H	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.0831228060382	0.0002	0.00119808	0.0007	0	0.0006	0.0001	0	0.0005	0.0022	0.0025	0.0006404	99	154602	rs201882245	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0004	0.0025	0.0024	8.961e-05	0.0004	0.0003	0	7.496e-05	0.0014	0.0004	0.0006	0.0028	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	4.817e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0.0005	0.0027	0.017	0.51248	D	0.003	0.76473	D	0.995	0.67487	D	0.758	0.56327	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.87	0.74583	T	-3.6	0.69357	D	0.507	0.53884	-0.1203	0.79627	T	0.504	0.81315	D	9	0.017304182	0.00368	T	0.083123	0.74047	D	0.516	0.79340	.	.	0.78657237741	0.78459	0.5392971891969099	0.53854	0.719350977625	0.62131	0.510847449303	0.40342	T	0.594865	0.86930	D	-0.244414	0.14792	T	-0.127851	0.61152	T	0.117754386827483	0.14208	T	0.996967	0.98830	D	0.3567762	0.57590	0.16929331	0.38953	0.3567762	0.57590	0.16929331	0.38952	-10.049	0.74204	D	.	.	0.674	0.71913	P	.	.	5.377096	0.90129	31	0.99927895526742894	0.99163	0.99830	0.99731	D	AEFDBI	0.902390	0.85023	D	0.810506191536066	0.86760	8.989708	0.839601065884331	0.92395	11.40132	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.566861	0.19136	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.958000	0.99013	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.293	0.98545	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1366.33	33	chr2	159229661	.	G	A	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.024;DP=709;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.509;SOR=1.139	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	18	0	1	0
chr2	159282762	159282762	C	G	exonic	WDSUB1	.	nonsynonymous SNV	WDSUB1:NM_001128212:exon2:c.G308C:p.C103S,WDSUB1:NM_001128213:exon2:c.G308C:p.C103S,WDSUB1:NM_001307994:exon2:c.G308C:p.C103S,WDSUB1:NM_001330274:exon2:c.G308C:p.C103S,WDSUB1:NM_001330276:exon2:c.G308C:p.C103S,WDSUB1:NM_001330277:exon2:c.G47C:p.C16S,WDSUB1:NM_001330278:exon2:c.G308C:p.C103S,WDSUB1:NM_152528:exon2:c.G308C:p.C103S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.0497777982132	0.0008	.	0.0006	9.61e-05	0.0007	0	0	0.0009	0	0	0.0004981	77	154602	rs147091578	0.0007	0.0007	0.0008	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	0.0002	0.0010	0	0	0.0002	0	0.0008	0.0005	4.637e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0003	0	0.0007	0	0	0	0	0.0010	0.0005	0	0.004	0.68238	D	0.038	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	N	0.040834	1	0.81001	D	.	.	.	0.11	0.61208	T	-7.77	0.96269	D	0.886	0.89577	-0.3481	0.73608	T	0.336	0.70305	T	10	0.662606	0.70241	D	0.049778	0.63958	D	0.581	0.83137	0.766	0.89373	0.675970969783	0.67322	0.7880234304787089	0.78754	0.482050726966	0.47176	0.747820198536	0.74124	T	0.097775	0.40093	T	0.01225	0.53333	T	0.194379	0.82817	D	0.244885161519051	0.22642	T	0.807119	0.46084	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.76591	P	.;.;.;.;.	.;.;.;.;.	4.795419	0.77860	26.8	0.99394685909247826	0.62519	0.99308	0.94281	D	AEFDGBI	0.930123	0.91694	D	0.673579805887829	0.77903	6.764927	0.659533987429056	0.79323	7.058075	0.999999999999039	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.6	4.72	0.59248	7.805000	0.84566	7.698000	0.66136	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8694:0.1306:0.0	16.563	0.84421	682	0.59757	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1481.33	34	chr2	159282762	.	C	G	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=726;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-1.042;SOR=0.95	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	18	0	1	0
chr2	159349180	159349180	C	G	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon28:c.G4856C:p.G1619A,BAZ2B:NM_001329857:exon29:c.G4802C:p.G1601A,BAZ2B:NM_001329858:exon29:c.G4889C:p.G1630A,BAZ2B:NM_013450:exon29:c.G4964C:p.G1655A	.	.	.	.	.	.	.	.	.	.	.	3196318	BAZ2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0119452831937	0.0007	0.000599042	0.0002	0.0028	8.675e-05	0	0	0	0	0	0.0002199	34	154602	rs34949465	0.0001	0.0001	0.0001	8.938e-05	0.0042	0.0001	9.967e-05	0.0036	0.0034	0.0042	0.0002	0	0	0	0.0002	2.698e-06	0.0004	3.478e-05	0.0010	0.0010	0.0011	0.0010	0.0036	0.0009	0.0009	0.0031	0.0030	0.0036	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0002	0.083	0.46129	T	0.236	0.24987	T	0.748	0.45573	P	0.147	0.34014	B	0.002494	0.36462	U	0.000000	0.993278	0.41889	D	2.34	0.67151	M	0.49	0.55775	T	-0.67	0.21429	N	0.732	0.76481	-0.9071	0.47203	T	0.139	0.45753	T	10	0.029918313	0.01118	T	0.011945	0.30057	T	0.152	0.39956	.	.	0.626795333227	0.62375	0.36890750500170855	0.36804	0.0512016197912	0.05634	0.525375068188	0.42383	T	0.012982	0.11314	T	-0.215591	0.18599	T	-0.0826029	0.64713	T	0.0270440361937644	0.01550	T	0.959204	0.84623	D	0.050028138	0.08975	0.0866538	0.20089	0.050028138	0.08974	0.0866538	0.20089	-3.961	0.23218	T	.	.	0.100	0.17189	B	.;.	.;.	3.049167	0.40908	21.3	0.97172062325726904	0.32682	0.88234	0.48071	D	AEFBI	0.209844	0.33579	N	0.193349828471145	0.50879	3.273864	0.283140169606572	0.54554	3.620114	0.989393603852852	0.31812	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.774000	0.55048	6.030000	0.52909	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.676	0.95929	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1987.33	33	chr2	159349180	.	C	G	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.115;DP=798;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.556;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	18	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.02632	3038.33	36	chr2	159350063	.	C	T	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.485;DP=868;ExcessHet=0;FS=4.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.18;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr2	159898895	159898895	C	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon2:c.G259T:p.D87Y,LY75-CD302:NM_001198760:exon2:c.G259T:p.D87Y,LY75:NM_002349:exon2:c.G259T:p.D87Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0290940489646	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs765949228	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.237e-05	1.051e-05	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.068e-05	3.311e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	0.997	0.70673	D	0.906	0.64351	P	0.221919	0.16118	N	0.447212	0.999999	0.08975	N	2.76	0.80626	M	1.47	0.31987	T	-4.28	0.76334	D	0.67	0.72477	-0.9744	0.36257	T	0.161	0.49548	T	10	0.63492596	0.68727	D	0.029094	0.51667	D	0.151	0.39764	0.5	0.59147	0.229924730088	0.22615	0.7228391615059485	0.72227	0.302519786144	0.32581	.	.	.	0.429117	0.77802	T	-0.0893608	0.38182	T	-0.25848	0.48977	T	0.681374463389201	0.39851	D	0.772623	0.41422	T	0.405667	0.61123	0.27457514	0.53387	0.405667	0.61123	0.27457514	0.53386	-5.841	0.44930	T	.	.	0.310	0.56690	B	.;.;.	.;.;.	3.082916	0.41477	21.4	0.99248046155005076	0.56792	0.45569	0.27568	N	AEFDGBHCI	0.195558	0.32258	N	0.12190964058044	0.47487	2.973684	-0.022087813010137	0.38720	2.285254	0.999999999470153	0.74766	0.656854	0.48797	0	0.685571	0.66316	0	0.67347	0.61138	0	0.655142	0.61905	0	.	.	5.92	3.17	0.35510	0.373000	0.20215	0.874000	0.22338	0.599000	0.40250	0.137000	0.23458	0.294000	0.24182	0.984000	0.60418	0.0:0.7298:0.0:0.2702	9.445	0.37859	621	0.65931	.;.;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1514.33	33	chr2	159898895	.	C	A	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.764;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	18	0	1	0
chr2	159984073	159984073	C	A	exonic	PLA2R1	.	nonsynonymous SNV	PLA2R1:NM_001007267:exon13:c.G2038T:p.V680L,PLA2R1:NM_001195641:exon13:c.G2038T:p.V680L,PLA2R1:NM_007366:exon13:c.G2038T:p.V680L	.	449	1072	1	0	0	1	0.0004662	0.9905	0.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0017	0.000998403	0.0009	0.0004	0.0008	0	0	0.0014	0.0011	0	0.0008926	138	154602	rs149133741	0.0011	0.0011	0.0011	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0002	0.0011	0.0008	0	0	0	0.0014	0.0008	5.231e-05	0.0010	0.0010	0.0011	0.0009	0.0016	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0014	0.0003	0	0	0	0.0016	0.0028	0	0.022	0.48642	D	0.017	0.60337	D	0.838	0.53992	P	0.175	0.45392	B	0.000147	0.49130	N	0.136360	0.999984	0.54805	D	2.005	0.54552	M	2.35	0.16217	T	-1.97	0.47344	N	0.397	0.45331	-1.1336	0.01618	T	0.030	0.12717	T	10	0.021524668	0.00517	T	0.011188	0.28559	T	0.054	0.15330	0.392	0.41606	0.491863012465	0.48820	0.6040406060433965	0.60335	0.151841041816	0.17138	0.625977396965	0.56574	T	0.12513	0.45063	T	-0.41655	0.01800	T	-0.401201	0.33243	T	0.0584062673151493	0.06915	T	0.865113	0.56452	D	0.17347172	0.38098	0.15863046	0.37035	0.17347172	0.38097	0.15863046	0.37035	-5.242	0.42499	T	.	.	0.386	0.59650	A	.;.	.;.	3.874086	0.56268	23.7	0.99481222679063686	0.66904	0.87213	0.46685	D	AEFBCI	0.764658	0.70138	D	0.177242734812633	0.50107	3.203986	0.260791496829948	0.53264	3.496346	0.999999422635396	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.59	4.69	0.58546	2.716000	0.46888	2.168000	0.31032	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1445:0.8555:0.0:0.0	14.922	0.70493	636	0.64483	C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005102	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	239.33	23	chr2	159984073	.	C	A	239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.912;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.45;SOR=0.399	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	18	0	1	0
chr2	161416504	161416504	C	T	exonic	TBR1	.	nonsynonymous SNV	TBR1:NM_006593:exon1:c.C94T:p.L32F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.035376100049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.307	0.19908	T	0.005	0.12996	B	0.003	0.08700	B	0.011267	0.29595	N	0.322160	0.999999	0.58761	D	1.095	0.27400	L	-2.27	0.87433	D	-0.18	0.09796	N	0.298	0.33687	-0.1190	0.79657	T	0.556	0.83808	D	10	0.1734454	0.32171	T	0.035376	0.56304	D	0.215	0.50805	0.296	0.26041	0.332276917938	0.32835	0.5695582387100309	0.56883	.	.	0.753842949867	0.75014	T	0.253087	0.62356	T	0.000787688	0.51762	T	-0.236645	0.51126	T	0.584865859875217	0.35806	D	0.770523	0.40040	T	0.18915862	0.40445	0.20821	0.45113	0.18915862	0.40445	0.20821	0.45112	-4.535	0.31344	T	.	.	0.136	0.29642	B	.	.	5.563316	0.92155	32	0.9925224513219093	0.56924	0.97134	0.72889	D	AEFDBCI	0.765344	0.70186	D	0.0897049984129094	0.45984	2.845895	0.256393002742456	0.53015	3.472574	0.999999991095005	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.526665	0.08891	0	.	.	5.15	5.15	0.70287	4.533000	0.60328	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.784	0.88443	700	0.57880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5758.81	39	chr2	161416504	.	C	T	5758.81	.	AC=2;AF=0.053;AN=38;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.82;SOR=1.063	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	18	1	0	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1450,0,1481	16	1	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	436	1075	9	2	0	13	0.00601017	.	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.006793	0.005848	0.050000	0.008621	0.003049	0.000000	0.02632	1108.33	35	chr2	162276886	.	G	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=686;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.463;SOR=1.013	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1122,0,897	18	0	1	0
chr2	162310791	162310791	C	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon2:c.G596T:p.G199V	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	432	1088	2	0	0	2	0.000918274	.	.	.	3094106	Singleton-Merten_syndrome_1|Aicardi-Goutieres_syndrome_7	MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0215944150525	.	.	5.897e-05	0	8.905e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs753834225	2.6e-05	2.599e-05	4.085e-06	4.814e-05	0.0004	1.933e-05	1.693e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.313e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.049929	1	0.81001	D	2.985	0.85602	M	1.96	0.45636	T	-3.33	0.93366	D	0.768	0.76573	-0.6440	0.62974	T	0.245	0.61412	T	10	0.29033837	0.46614	T	0.021594	0.44390	T	0.193	0.47281	0.464	0.53404	0.809092775902	0.80730	0.6586831205924255	0.65805	0.215301781691	0.24062	0.372845113277	0.21239	T	0.175736	0.52543	T	-0.146904	0.28798	T	-0.126827	0.61238	T	0.935249507427216	0.60332	D	0.811819	0.46320	T	0.68651557	0.77322	0.5457326	0.73741	0.68651557	0.77323	0.5457326	0.73741	-5.195	0.42929	T	0.6984718404596627	0.77713	0.390	0.67315	A	.;.;.;.	.;.;.;.	3.813240	0.55018	23.6	0.99763348227002757	0.85254	0.95744	0.65969	D	AEFGBI	0.235050	0.35771	N	0.644459101218071	0.76010	6.408377	0.613701920550917	0.75933	6.399212	0.999999949860133	0.74766	0.615465	0.37627	0	0.581341	0.33841	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.81	4.9	0.63643	3.673000	0.54326	4.020000	0.41242	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.8663:0.1337:0.0	16.043	0.80504	544	0.72685	Caspase recruitment domain;Caspase recruitment domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1287.33	34	chr2	162310791	.	C	A	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.407;DP=726;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.667;SOR=0.856	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	163610458	163610458	G	T	exonic	FIGN	.	nonsynonymous SNV	FIGN:NM_001321825:exon2:c.C1341A:p.D447E,FIGN:NM_018086:exon3:c.C1374A:p.D458E	.	420	1101	1	0	0	1	0.000453926	.	.	.	2676777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0240908991932	.	.	4.971e-05	0	8.643e-05	0	0	7.494e-05	0	0	5.82e-05	9	154602	rs769689570	6.909e-05	6.909e-05	7.895e-05	5.913e-05	0.0021	5.78e-05	5.391e-05	0.0012	0.0009	0	8.944e-05	0	0	0	0.0021	7.284e-05	6.623e-05	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	6.551e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.409e-05	0.0005	0	0.221	0.18889	T	0.956	0.02575	T	0.178	0.28960	B	0.093	0.30104	B	0.000000	0.84330	D	0.048522	1.000	0.81001	D	0.295	0.10161	N	-2.95	0.91903	D	-1.86	0.43524	N	0.056	0.02759	-0.1134	0.79789	T	0.552	0.83593	D	10	0.10394347	0.19136	T	0.024091	0.47073	T	0.265	0.57870	0.282	0.23801	0.352477664867	0.34857	0.32895444274641467	0.32808	0.199639565115	0.22366	0.604802966118	0.53583	T	0.195713	0.55187	T	-0.225453	0.17256	T	-0.364653	0.37512	T	0.0518693667693878	0.05825	T	0.70393	0.31399	T	0.1556906	0.35175	0.1777936	0.40404	0.1556906	0.35174	0.1777936	0.40403	-4.943	0.36215	T	.	.	0.083	0.09288	B	.	.	2.159127	0.27505	17.49	0.97631409110513767	0.35023	0.87036	0.46457	D	AEFDBI	0.224488	0.34871	N	-0.123814537321443	0.36356	2.100444	0.0678946873330586	0.42946	2.606648	0.97890639345375	0.29970	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.9	5.0	0.66209	2.845000	0.47954	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0684:0.1293:0.8023:0.0	11.192	0.47919	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1490.33	36	chr2	163610458	.	G	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=840;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.309;SOR=0.663	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	163610697	163610697	T	C	exonic	FIGN	.	nonsynonymous SNV	FIGN:NM_001321825:exon2:c.A1102G:p.T368A,FIGN:NM_018086:exon3:c.A1135G:p.T379A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0302720960611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.852	0.03487	T	0.062	0.23277	B	0.016	0.17743	B	0.000384	0.44960	D	0.222920	0.999877	0.81001	D	-0.055	0.04927	N	-2.77	0.90904	D	2.17	0.00335	N	0.377	0.41853	-0.2397	0.76634	T	0.519	0.82024	D	10	0.09652713	0.17319	T	0.030272	0.52614	D	0.374	0.69273	0.227	0.15257	0.474801865133	0.47109	0.3774751127799524	0.37662	0.252522508138	0.27822	0.667145311832	0.62431	T	0.033032	0.22741	T	0.0644023	0.60163	T	-0.145267	0.59660	T	0.474365741014481	0.31691	T	0.608239	0.22965	T	0.13091761	0.30532	0.1337452	0.32064	0.13091761	0.30532	0.1337452	0.32063	-3.115	0.11469	T	.	.	0.064	0.01692	B	.	.	2.539308	0.32847	19.16	0.3814951937832472	0.02556	0.95814	0.66267	D	AEFBI	0.603568	0.59500	D	-0.187765767491492	0.33644	1.911018	0.0603120095238513	0.42571	2.577356	0.997834571837436	0.36087	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	5.015000	0.63798	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.588	0.84597	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3771.33	36	chr2	163610697	.	T	C	3771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1054;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.12;SOR=0.707	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	164694379	164694379	C	T	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.G3013A:p.E1005K,COBLL1:NM_001278460:exon12:c.G3151A:p.E1051K,COBLL1:NM_001365670:exon12:c.G3148A:p.E1050K,COBLL1:NM_001365672:exon12:c.G3013A:p.E1005K,COBLL1:NM_001365673:exon12:c.G3013A:p.E1005K,COBLL1:NM_014900:exon12:c.G3127A:p.E1043K,COBLL1:NM_001365671:exon13:c.G3190A:p.E1064K,COBLL1:NM_001365674:exon13:c.G3052A:p.E1018K,COBLL1:NM_001365675:exon13:c.G3052A:p.E1018K,COBLL1:NM_001278458:exon15:c.G3328A:p.E1110K	.	424	1095	3	0	0	3	0.00136799	.	.	.	3952086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00921176256957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415298824	1.573e-05	1.573e-05	8.168e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	4.497e-06	0	0.0002	3.944e-05	3.94e-05	2.57e-05	5.383e-05	0.0002	1.716e-05	1.13e-05	2.262e-05	9.08e-06	4.828e-05	0	0.0001	0	0	0	0	0	0.0005	0.0002	0.2	0.20835	T	0.585	0.09175	T	0.006	0.13644	B	0.001	0.04355	B	0.338579	0.04174	N	1.368040	1	0.08975	N	2.28	0.64929	M	.	.	.	-1.58	0.40660	N	0.08	0.10340	-1.0285	0.20940	T	0.051	0.21883	T	9	0.05851221	0.06890	T	0.009212	0.24201	T	0.061	0.17616	0.209	0.12639	0.440915056915	0.43709	0.1773925857246207	0.17658	0.0549889752522	0.06090	0.369859278202	0.20812	T	0.008391	0.23413	T	-0.163662	0.26199	T	-0.472865	0.25209	T	0.0620419191418246	0.07487	T	0.717028	0.32946	T	0.03399905	0.03731	0.04341053	0.05394	0.03399905	0.03731	0.04341053	0.05393	-4.426	0.29907	T	.	.	0.086	0.10835	B	.;.;.;.	.;.;.;.	0.687443	0.10558	7.269	0.88692411782219993	0.18179	0.02824	0.07562	N	AEFDBHCI	0.093968	0.19006	N	-1.01666722684232	0.08258	0.3865485	-1.02346249041972	0.09269	0.4602441	0.999999989026147	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	3.08	0.34576	0.638000	0.24363	1.789000	0.28782	-0.172000	0.11096	0.001000	0.13787	0.029000	0.21193	0.002000	0.04165	0.1012:0.5751:0.1688:0.1549	4.472	0.11138	872	0.31118	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1135.33	126	chr2	164694379	.	C	T	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=755;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.044;SOR=0.663	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1212	18	0	1	0
chr2	164743751	164743754	TATC	-	exonic	COBLL1	.	frameshift deletion	COBLL1:NM_001278461:exon2:c.163_166del:p.D55Kfs*25,COBLL1:NM_014900:exon2:c.163_166del:p.D55Kfs*25,COBLL1:NM_001278460:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365670:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365671:exon3:c.301_304del:p.D101Kfs*25,COBLL1:NM_001365672:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365673:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365674:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001365675:exon3:c.163_166del:p.D55Kfs*25,COBLL1:NM_001278458:exon4:c.322_325del:p.D108Kfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1481.29	33	chr2	164743750	.	TTATC	T	1481.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.09;SOR=0.796	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1297	18	0	1	0
chr2	165140852	165140852	G	C	exonic	SCN3A	.	nonsynonymous SNV	SCN3A:NM_001081676:exon13:c.C1818G:p.S606R,SCN3A:NM_001081677:exon13:c.C1818G:p.S606R,SCN3A:NM_006922:exon13:c.C1818G:p.S606R	.	147	1374	1	0	0	1	0.000363769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.145142394069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.082	0.41573	T	0.409	0.65571	B	0.552	0.56974	P	0.000000	0.84330	D	0.000000	0.999605	0.47795	D	3.215	0.89331	M	-2.77	0.90904	D	-4.22	0.75854	D	0.69	0.69562	0.884	0.95455	D	0.861	0.95363	D	10	0.57252944	0.65399	D	0.145142	0.82735	D	0.617	0.85091	0.209	0.12639	0.738178334999	0.73583	0.819589037628608	0.81915	1.29869024389	0.82957	0.648658752441	0.59796	T	0.823602	0.95713	D	0.18556	0.72555	D	0.0287672	0.72198	D	0.996535658836365	0.89544	D	0.956938	0.83911	D	0.8801021	0.89675	0.87418103	0.93156	0.8801021	0.89676	0.87418103	0.93156	-9.907	0.73443	D	.	.	0.831	0.82022	P	.;.;.;.;.	.;.;.;.;.	4.696758	0.75312	26.3	0.99658631975511058	0.77757	0.96174	0.67873	D	AEFGI	0.809370	0.73289	D	0.694830970797248	0.79294	7.047341	0.727169084272099	0.84441	8.292876	0.99803698553338	0.36340	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	5.391000	0.66015	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.659	0.99629	848	0.35897	Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3372.33	308	chr2	165140852	.	G	C	3372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.803;DP=945;ExcessHet=0;FS=3.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.904;SOR=0.539	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1479	18	0	1	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	8	1446	61	7	0	75	0.0252781	.	.	.	136097	not_provided|Nephronophthisis_12|Asphyxiating_thoracic_dystrophy_4|not_specified|Nephronophthisis|Jeune_thoracic_dystrophy|Connective_tissue_disorder	MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.000000	0.014946	0.043860	0.050000	0.017241	0.021341	0.030303	0.02632	1162.33	34	chr2	165917310	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=720;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=2.46;SOR=0.431	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	1	0
chr2	166284701	166284701	T	C	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon12:c.A1726G:p.S576G,SCN9A:NM_002977:exon12:c.A1726G:p.S576G	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	516671	Inborn_genetic_diseases|not_provided|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.826	0.277108268596	.	.	6.626e-05	0	0	0	0	0.0001	0	6.057e-05	5.17e-05	8	154602	rs202090277	5.747e-05	5.746e-05	4.901e-05	6.601e-05	0.0003	4.743e-05	4.366e-05	6.092e-05	4.424e-05	0.0001	6.708e-05	0	0	0	0.0003	6.026e-05	6.625e-05	3.478e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.192	0.29740	T	0.999	0.77913	D	0.988	0.77976	D	0.000105	0.50451	D	0.141506	0.999999	0.58761	D	3.32	0.90714	M	-3.49	0.94621	D	-3.8	0.71762	D	0.764	0.79214	1.078	0.98832	D	0.930	0.97679	D	10	0.86584985	0.85829	D	0.277108	0.90096	D	0.826	0.94466	.	.	0.912968498065	0.91209	0.7348260758283284	0.73427	0.267686544496	0.29308	0.60834145546	0.54081	T	0.60113	0.87218	D	0.184983	0.72501	D	0.264608	0.86310	D	0.458898723125458	0.31125	T	0.885211	0.76978	D	0.74847245	0.80779	0.6834253	0.81391	0.74847245	0.80781	0.6834253	0.81392	-12.723	0.89410	D	0.4389746917465869	0.52481	0.243	0.61978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.141441	0.62054	24.4	0.99750205657026991	0.84228	0.98435	0.82748	D	AEFBI	0.939750	0.94077	D	0.758368586226959	0.83450	8.020429	0.744445317263778	0.85744	8.672114	0.99999999740498	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	7.674000	0.83146	7.910000	0.73981	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	16.145	0.81371	559	0.71409	.;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1824.33	33	chr2	166284701	.	T	C	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.125;DP=787;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.586;SOR=0.93	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	18	0	1	0
chr2	166286602	166286602	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon11:c.G1336A:p.E446K,SCN9A:NM_002977:exon11:c.G1336A:p.E446K	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	2	1516	4	0	0	4	0.00131752	.	.	.	794852	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.427	0.0292474244326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175228324	6.396e-06	6.84e-06	8.436e-06	4.311e-06	0.0013	3.01e-06	2.18e-06	0.0006	0.0004	0	0	0	0	0	0.0013	1.835e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25457	T	0.333	0.18505	T	0.061	0.23190	B	0.028	0.21332	B	0.600290	0.10965	N	0.811985	0.938463	0.37226	D	0.55	0.14455	N	-3.88	0.96015	D	-0.71	0.20145	N	0.564	0.59393	0.304	0.87623	D	0.805	0.93393	D	10	0.45330295	0.58834	T	0.029247	0.51792	D	0.427	0.73445	.	.	0.835456322876	0.83388	0.33017419835296774	0.32930	0.166143637461	0.18748	0.602673411369	0.53282	T	0.238066	0.60590	T	0.177273	0.71792	D	0.0168635	0.71427	D	0.657298624515533	0.38777	D	0.90391	0.66280	D	0.18645407	0.40054	0.14282149	0.33965	0.18645407	0.40054	0.14282149	0.33964	-7.001	0.54223	T	.	.	0.108	0.30423	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.980757	0.39761	21.0	0.99162492743998454	0.54127	0.99357	0.94965	D	AEFDBIJ	0.866352	0.78574	D	0.108227117660622	0.46846	2.918841	0.282885769176482	0.54541	3.618677	0.930365595070193	0.27005	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.357000	0.78710	5.989000	0.52298	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	19.851	0.96739	563	0.71062	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	612.33	33	chr2	166286602	.	C	T	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.849;DP=623;ExcessHet=0;FS=4.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.679;SOR=0.122	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr2	166432502	166432502	T	A	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon16:c.A2408T:p.D803V	.	433	1060	25	4	0	33	0.0153275	.	.	.	697139	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0029	0.00299521	0.0035	0.0008	0.0029	0	0.0003	0.0043	0.0189	0.0043	0.003163	489	154602	rs148715564	0.0025	0.0025	0.0023	0.0028	0.0241	0.0025	0.0024	0.0208	0.0196	0.0008	0.0038	0.0211	2.52e-05	0.0011	0.0241	0.0019	0.0051	0.0046	0.0027	0.0027	0.0027	0.0026	0.0062	0.0025	0.0024	0.0045	0.0039	0.0006	0	0.0045	0.0202	0	0.0007	0.0374	0.0026	0.0090	0.0062	0.008	0.58626	D	0.071	0.43531	T	0.89	0.48942	P	0.599	0.50715	P	0.674926	0.06058	N	1.173820	0.999647	0.20796	N	1.775	0.45938	L	-1.73	0.83327	D	-3.21	0.64826	D	0.198	0.24758	-0.4964	0.68780	T	0.370	0.72985	T	10	0.0068911016	0.00156	T	.	.	.	0.407	0.71946	.	.	0.833789463224	0.83220	0.3576625464741428	0.35680	0.0478619375495	0.05220	0.27166607976	0.06359	T	0.464206	0.79985	T	-0.430671	0.01469	T	-0.391276	0.34403	T	0.0886948189914002	0.11061	T	0.181582	0.01831	T	0.19315112	0.41013	0.13550666	0.32442	0.19315112	0.41013	0.13550666	0.32441	-5.047	0.37346	T	.	.	0.071	0.04396	B	.;.;.;.;.	.;.;.;.;.	1.191716	0.15830	12.13	0.93693795261220436	0.23601	0.17821	0.20001	N	AEFHCI	0.231834	0.35500	N	-0.557061957680997	0.20264	1.066895	-0.782328897511471	0.14929	0.7825812	0.974590910610634	0.29556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.51	-5.18	0.02624	-0.247000	0.08884	-0.041000	0.12668	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.3942:0.0684:0.2212:0.3163	2.095	0.03444	537	0.73184	Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.033233	0.060606	0.031250	0.040936	0.000000	0.017241	0.042683	0.011364	0.05263	6416.81	35	chr2	166432502	.	T	A	6416.81	.	AC=2;AF=0.053;AN=38;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.15;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	1	0	0
chr2	166441505	166441505	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon15:c.G2048A:p.R683Q	.	12	1470	39	1	0	41	0.0137538	.	.	.	99990	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.787	.	0.0031	0.00638978	0.0056	0.0007	0.0029	0	0	0.0039	0.0067	0.0224	0.0050517	781	154602	rs116825611	0.0037	0.0037	0.0031	0.0043	0.0206	0.0036	0.0036	0.0198	0.0195	0.0004	0.0023	0.0236	2.521e-05	0.0003	0.0115	0.0023	0.0045	0.0206	0.0026	0.0026	0.0027	0.0025	0.0203	0.0024	0.0023	0.0171	0.0159	0.0006	0	0.0012	0.0219	0	0.0002	0.0136	0.0024	0.0062	0.0203	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000110	0.50451	D	0.000000	0.999701	0.48408	D	1.595	0.40691	L	-4.29	0.97149	D	-3.94	0.73378	D	0.711	0.74462	1.026	0.97642	D	0.910	0.97012	D	10	0.013575166	0.00288	T	.	.	.	0.787	0.92948	.	.	0.986878801639	0.98673	0.7030954503724556	0.70250	0.271094702539	0.29633	0.438645839691	0.30392	T	0.738384	0.93955	D	0.0152406	0.53738	T	0.265372	0.86346	D	0.0222640236973209	0.00939	T	0.993421	0.97849	D	0.8230196	0.85424	0.73580307	0.84385	0.8230196	0.85425	0.73580307	0.84386	-7.754	0.59382	D	.	.	0.213	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	4.937178	0.81443	27.6	0.99955698526693537	0.99975	0.98705	0.85807	D	AEFDI	0.951883	0.96684	D	0.589331314128678	0.72507	5.816814	0.554543455063248	0.71714	5.697109	0.999993935172976	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.905000	0.86479	7.651000	0.63703	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	15.709	0.77370	539	0.73055	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.014946	0.011696	0.000000	0.000000	0.009146	0.011364	0.02632	2701.33	34	chr2	166441505	.	C	T	2701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.807;DP=824;ExcessHet=0;FS=3.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.32;SOR=0.961	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	18	0	1	0
chr2	166444775	166444775	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon13:c.A1613G:p.N538S	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0002	0.00459265	0.0031	0	0	0.0353	0	0.0011	0.0054	0.0012	0.0012613	195	154602	rs78403942	0.0006	0.0006	0.0006	0.0006	0.0143	0.0006	0.0006	0.0133	0.0129	3.053e-05	2.445e-05	0.0048	0.0143	1.908e-05	0.0002	6.933e-05	0.0009	0.0006	0.0007	0.0007	0.0007	0.0007	0.0156	0.0006	0.0006	0.0129	0.0119	2.407e-05	0	0	0.0049	0.0156	9.423e-05	0	7.351e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.112093	0.02649	N	1.741270	1	0.08975	N	-1.025	0.01131	N	-4.3	0.97172	D	1.31	0.01488	N	0.029	0.01068	-0.2307	0.76869	T	0.272	0.64401	T	10	0.0064884126	0.00147	T	.	.	.	0.272	0.58758	.	.	0.539879176108	0.53640	0.06481041292915053	0.06420	0.029846534252	0.03076	0.254973471165	0.04310	T	0.452162	0.79260	T	-0.49006	0.00649	T	-0.46439	0.26123	T	0.0132908070502156	0.00238	T	0.466353	0.29103	T	0.025017047	0.01392	0.020557923	0.00142	0.025017047	0.01392	0.020557923	0.00142	-1.94	0.02963	T	.	.	0.064	0.02670	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.837804	0.01035	0.044	0.23336182578870104	0.00982	0.01202	0.04284	N	AEFI	0.082172	0.16635	N	-2.08666205034322	0.00137	0.00586314	-2.10775830047511	0.00179	0.007893968	0.996758219254748	0.34982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	-11.2	0.00099	-4.303000	0.00293	-4.526000	0.02112	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.2446:0.1414:0.2306:0.3835	0.705	0.00856	542	0.72843	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	34	chr2	166444775	.	T	C	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.905;DP=752;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.388;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr2	166462403	166462403	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon10:c.G1069A:p.V357I	.	434	1085	3	0	0	3	0.00138058	.	.	.	2105766	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.285	0.0593794178862	0.0009	0.000199681	0.0011	0.0005	0.0011	0	0.0003	0.0019	0.0025	0.0002	0.0005821	90	154602	rs200494318	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	9.027e-05	0.0005	3.895e-05	0	1.907e-05	0.0005	0.0013	0.0012	9.664e-05	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0002	0	0.0003	0	0	0	0	0.0011	0.0005	0	0.215	0.50676	T	0.016	0.60972	D	0.09	0.25173	B	0.089	0.29769	B	0.153306	0.02980	N	1.801380	1	0.08975	N	0.895	0.22405	L	-4.23	0.97006	D	-0.07	0.08033	N	0.116	0.10483	0.047	0.83182	D	0.765	0.92002	D	10	0.036837906	0.02003	T	0.059379	0.67645	D	0.285	0.60338	.	.	0.702360448851	0.69978	0.05596179342164845	0.05537	0.0366361011954	0.03876	0.249093979597	0.03673	T	0.480257	0.81840	T	-0.295032	0.09137	T	-0.203046	0.54357	T	0.0133890834141368	0.00242	T	0.941706	0.78221	D	0.06327235	0.13306	0.039921265	0.04197	0.06327235	0.13306	0.039921265	0.04196	-3.861	0.21719	T	.	.	0.088	0.11893	B	.;.;.;.;.;.	.;.;.;.;.;.	2.124899	0.27051	17.33	0.63091230844875557	0.07132	0.02666	0.07285	N	AEFI	0.054371	0.09879	N	-0.911867355649387	0.10563	0.5053931	-0.893616840530456	0.12244	0.6287231	4.07208132149699E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.14	-0.334	0.12038	0.285000	0.18642	0.273000	0.16680	-0.242000	0.07441	0.005000	0.17040	0.009000	0.19889	0.912000	0.44740	0.2031:0.2595:0.1843:0.3531	0.274	0.00219	564	0.70960	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	750.33	69	chr2	166462403	.	C	T	750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.973;DP=691;ExcessHet=0;FS=0.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.456;SOR=0.545	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1156	18	0	1	0
chr2	166903664	166903664	G	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001079810:exon2:c.G182T:p.S61I,XIRP2:NM_001199143:exon2:c.G182T:p.S61I,XIRP2:NM_152381:exon2:c.G182T:p.S61I	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0689438744107	.	0.000399361	0.0006	0	8.77e-05	0	0	0	0.0011	0.0042	0.0004786	74	154602	rs535394458	0.0003	0.0003	0.0001	0.0004	0.0041	0.0002	0.0002	0.0038	0.0036	0	0	0	0	0	0.0003	0	0.0002	0.0041	0.0001	0.0001	5.141e-05	0.0002	0.0046	9.744e-05	8.258e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.004	0.68238	D	0.065	0.44702	T	0.904	0.49848	P	0.499	0.50587	P	.	.	.	.	1	0.08975	N	.	.	.	-1.35	0.80125	T	-1.51	0.36787	N	0.214	0.39052	-0.5762	0.65768	T	0.415	0.76211	T	8	0.010494888	0.00233	T	0.068944	0.70592	D	0.101	0.28911	0.265	0.21103	0.191931220699	0.18833	0.021634611875649874	0.02115	0.0859833665422	0.09713	0.27125826478	0.06306	T	.	.	.	-0.417785	0.01767	T	-0.373416	0.36491	T	0.095908029323736	0.11901	T	0.407359	0.10471	T	.	.	.	.	.	.	.	.	-4.63	0.32546	T	.	.	0.103	0.24226	B	.;.;.	.;.;.	3.193837	0.43402	21.7	0.98703048307391694	0.44939	0.06750	0.12772	N	AEFI	0.060950	0.11618	N	-0.535450513707735	0.20942	1.10776	-0.712627430154224	0.16647	0.8815981	1.6850468982265E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	0.444	0.15803	0.276000	0.18478	0.042000	0.13882	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.218:0.3671:0.4148:0.0	4.348	0.10576	272	0.89337	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2427.33	34	chr2	166903664	.	G	T	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.233;DP=784;ExcessHet=0;FS=10.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=2.77;SOR=0.265	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr2	167242806	167242806	T	C	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.T748C:p.S250P,XIRP2:NM_152381:exon9:c.T1414C:p.S472P	.	429	1045	46	2	0	50	0.0233645	.	.	.	778897	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0025	0.00439297	0.0063	0.0004	0.0035	0	0.0003	0.0033	0.0134	0.0289	0.0055045	851	154602	rs143400009	0.0045	0.0045	0.0035	0.0054	0.0369	0.0044	0.0044	0.0329	0.0313	0.0010	0.0024	0.0049	5.038e-05	0.0004	0.0369	0.0029	0.0047	0.0301	0.0031	0.0031	0.0025	0.0037	0.0247	0.0029	0.0028	0.0211	0.0197	0.0006	0	0.0035	0.0063	0.0002	0.0004	0.0340	0.0034	0.0038	0.0247	0.006	0.63226	D	.	.	.	0.999	0.90584	D	0.996	0.88582	D	0.001944	0.37596	N	0.262543	0.999984	0.81001	D	2.9	0.83903	M	4.07	0.03063	T	-1.77	0.43717	N	0.354	0.42639	-1.2009	0.00143	T	0.028	0.11882	T	10	0.005220413	0.00114	T	.	.	.	0.095	0.27398	.	.	0.215869574891	0.21205	0.17762130883602176	0.17681	0.171636757321	0.19330	0.411723613739	0.26695	T	0.143441	0.47955	T	-0.449406	0.01139	T	-0.396004	0.33850	T	0.0422405308829457	0.04099	T	0.747925	0.36851	T	0.29689428	0.52624	0.4320337	0.66802	0.29689428	0.52624	0.4320337	0.66802	-2.586	0.06397	T	.	.	0.183	0.39765	B	.;.;.	.;.;.	4.240903	0.64293	24.7	0.99888557470709538	0.96281	0.95306	0.64209	D	AEFI	0.762766	0.70007	D	0.598691571459322	0.73092	5.91011	0.585353958195039	0.73888	6.044908	0.999999855070745	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	2.925000	0.48580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.437	0.74881	665	0.61472	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.034743	0.015152	0.021739	0.070175	0.000000	0.034483	0.024390	0.060606	0.02632	2907.33	34	chr2	167242806	.	T	C	2907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=826;ExcessHet=0;FS=8.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.44;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr2	167243881	167243881	A	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.A1823T:p.K608M,XIRP2:NM_152381:exon9:c.A2489T:p.K830M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2690326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.026941925353	.	.	8.293e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs779761167	1.779e-05	1.779e-05	5.445e-06	3.025e-05	0.0002	1.238e-05	1.051e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	0.0002	1.315e-05	1.314e-05	0	2.691e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.003	0.68238	D	.	.	.	0.998	0.90584	D	0.87	0.64797	P	0.000002	0.62929	D	0.097761	0.997631	0.81001	D	1.975	0.53506	M	4.06	0.03063	T	-2.87	0.61284	D	0.415	0.46649	-1.1551	0.00881	T	0.028	0.11882	T	10	0.19531497	0.35378	T	0.026942	0.49802	D	0.096	0.27654	0.329	0.31357	0.201204373187	0.19734	0.6841255612075248	0.68351	0.171559014542	0.19320	0.403291702271	0.25527	T	0.325886	0.69656	T	-0.324885	0.06506	T	-0.500852	0.22260	T	0.855738282203674	0.50667	D	0.739226	0.35772	T	0.19578293	0.41380	0.12441201	0.29988	0.19578293	0.41380	0.12441201	0.29987	-6.373	0.51236	T	.	.	0.157	0.34667	B	.;.;.	.;.;.	3.322330	0.45702	22.2	0.99209632239228274	0.55533	0.95971	0.66952	D	AEFI	0.510154	0.53932	D	0.284926733264679	0.55382	3.702483	0.235116194744699	0.51808	3.360109	0.96907487983519	0.29100	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.36	0.37579	1.653000	0.36940	5.207000	0.47953	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.934000	0.47231	0.7942:0.1358:0.07:0.0	8.485	0.32228	656	0.62345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1169.33	34	chr2	167243881	.	A	T	1169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=1038;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.192;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr2	167251237	167251237	A	G	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.A9179G:p.H3060R,XIRP2:NM_152381:exon9:c.A9845G:p.H3282R	.	432	1087	3	0	0	3	0.00137804	.	.	.	777158	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.012	0.00239804226469	0.0007	0.000399361	0.0009	0.0003	0.0011	0	0.0002	0.0013	0.0011	0.0002	0.0008797	136	154602	rs190407445	0.0013	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0013	0.0004	0.0009	0.0048	0	5.623e-05	0.0009	0.0014	0.0018	0.0002	0.0008	0.0008	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0005	0	0.0005	0.0046	0	0	0.0068	0.0012	0	0.0002	0.213	0.19430	T	0.462	0.12526	T	0.0	0.02946	B	0.0	0.01387	B	0.132073	0.02816	N	1.577760	1	0.08975	N	0.315	0.10303	N	4.5	0.02032	T	-0.06	0.07882	N	0.017	0.00226	-0.9354	0.43333	T	0.004	0.01330	T	10	0.0038044453	0.00071	T	0.002398	0.04701	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.13998587036779928	0.13921	0.0206115458999	0.02030	0.196560412645	0.00364	T	0.010909	0.09797	T	-0.76173	0.00015	T	-0.872807	0.00716	T	0.00918257481234837	0.00116	T	0.391261	0.09725	T	0.017636936	0.00289	0.033234306	0.02184	0.017636936	0.00289	0.033234306	0.02184	-2.574	0.06308	T	.	.	0.064	0.02012	B	.;.;.;.	.;.;.;.	-2.146358	0.00073	0.001	0.10214799386380036	0.00123	0.00127	0.00790	N	AEFBI	0.036174	0.04777	N	-2.24821254456091	0.00060	0.002559707	-2.2852922434339	0.00072	0.003146624	0.999580889778123	0.40607	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	-9.31	0.00548	-0.296000	0.08323	-1.802000	0.04699	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4647:0.2969:0.2384:0.0	9.249	0.36703	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2168.33	200	chr2	167251237	.	A	G	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.052;DP=1323;ExcessHet=0;FS=3.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.714;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr2	167258114	167258114	G	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199145:exon8:c.G902T:p.R301M,XIRP2:NM_001079810:exon10:c.G1568T:p.R523M,XIRP2:NM_001199143:exon11:c.G1667T:p.R556M	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0299972436548	0.0003	0.000199681	0.0004	0	0.0018	0	0	0.0003	0	0.0006	0.0003687	57	154602	rs187579128	0.0003	0.0003	0.0002	0.0003	0.0082	0.0002	0.0002	0.0063	0.0056	0.0002	0.0013	0	0	0	0.0082	0.0002	0.0006	0.0005	0.0003	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	0.0009	0.0008	7.227e-05	0	0.0014	0	0	0	0	0.0002	0.0019	0	0.032	0.47745	D	0.101	0.39492	T	0.4	0.40811	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78199	T	-1.02	0.26843	N	0.214	0.23884	-0.8600	0.51263	T	0.211	0.57067	T	8	0.011079311	0.00244	T	0.029997	0.52399	D	0.128	0.35103	.	.	0.318828661733	0.31499	.	.	.	.	.	.	.	.	.	.	-0.461671	0.00960	T	-0.476468	0.24824	T	0.016791582471536	0.00434	T	0.516848	0.16688	T	.	.	.	.	.	.	.	.	-3.603	0.20089	T	.	.	0.148	0.34205	B	.;.;.	.;.;.	0.259378	0.06380	2.845	0.92702688615321027	0.22195	0.59668	0.30979	D	AEFI	0.196131	0.32313	N	-0.378795725072503	0.26227	1.429708	-0.40748225030383	0.24777	1.358737	0.228250423536601	0.18435	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	6.06	2.78	0.31702	0.794000	0.26619	0.751000	0.21237	0.676000	0.76740	0.049000	0.21372	0.089000	0.22506	0.108000	0.18652	0.3084:0.0:0.5161:0.1754	3.401	0.06900	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.017241	0.000000	0.000000	0.02632	2017.33	33	chr2	167258114	.	G	T	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.021;DP=774;ExcessHet=0;FS=5.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.883;SOR=1.146	GT:AD:DP:GQ:PL	0/1:81,73:154:99:2031,0,2283	18	0	1	0
chr2	168247287	168247292	GCCGGG	-	exonic	STK39	.	nonframeshift deletion	STK39:NM_013233:exon1:c.144_149del:p.P49_A50del	.	35	129	12	48	2	110	0.295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297992868	0.0017	0.0013	0.0017	0.0016	0.0023	0.0016	0.0016	0.0017	0.0016	0.0022	0.0023	0	0.0021	0.0002	0.0022	0.0017	0.0014	0.0009	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0024	0.0022	0.0028	0	0.0019	0	0.0012	0	0	0.0019	0.0030	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1589.07	1	chr2	168247286	.	CGCCGGG	C	1589.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.306;DP=153;ExcessHet=0;FS=0;InbreedingCoeff=0.6911;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=26.23;ReadPosRankSum=-1.876;SOR=0.627	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,740	15	1	0	3
chr2	168850945	168850945	T	C	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001171631:exon13:c.T740C:p.L247P	.	432	1071	19	0	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0035	0.0169728	0.0114	0.0019	0.0541	0.0745	0	0.0065	0.0105	0.0154	0.006106	944	154602	rs118103537	0.0069	0.0055	0.0066	0.0071	0.0387	0.0067	0.0067	0.0370	0.0362	0.0010	0.0322	0.0190	0.0387	7.987e-05	0.0115	0.0010	0.0082	0.0144	0.0048	0.0048	0.0041	0.0056	0.0544	0.0045	0.0044	0.0491	0.0471	0.0008	0	0.0129	0.0176	0.0544	0	0.0136	0.0011	0.0057	0.0143	0.0	0.91255	D	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.13	0.38556	T	-0.12	0.08809	N	0.139	0.13769	-1.0418	0.16770	T	0.007	0.02321	T	9	0.00228104	0.00033	T	.	.	.	0.038	0.09825	.	.	.	.	0.42850621485408225	0.42767	0.161174285547	0.18189	.	.	.	.	.	.	-0.666002	0.00058	T	-0.681547	0.06889	T	0.0109697287305494	0.00158	T	0.344566	0.07542	T	.	.	.	.	.	.	.	.	-4.375	0.29216	T	.	.	0.134	0.28948	B	.;.	.;.	-0.681065	0.01365	0.077	0.68700796775879425	0.08739	0.01257	0.04415	N	AEFDBI	0.121754	0.23657	N	-1.27524182856208	0.03975	0.1786065	-1.36107588233821	0.03677	0.172013	0.99966287833631	0.41534	0.562547	0.31514	0	0.653731	0.59785	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	4.76	-5.19	0.02616	-2.553000	0.01002	-3.746000	0.02565	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.241:0.2769:0.0:0.4821	4.259	0.10183	768	0.49510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009544	0.000000	0.005618	0.000000	0.100000	0.008929	0.012270	0.026718	0.02632	2441.33	35	chr2	168850945	.	T	C	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1771;ExcessHet=0;FS=10.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.13;SOR=1.391	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	18	0	1	0
chr2	168877265	168877265	T	G	exonic	SPC25	.	nonsynonymous SNV	SPC25:NM_020675:exon4:c.A319C:p.K107Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0705414026475	0.0002	0.000199681	0.0004	0	0.0002	0	0.0002	0.0002	0	0.0022	0.0003428	53	154602	rs202047860	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.238e-05	0	0	9.366e-05	0.0003	9.714e-05	0.0003	0.0026	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	4.811e-05	0	0	0	0	0	0	0.0002	0.0005	0.0029	0.027	0.56456	D	0.023	0.57104	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.148532	0.999855	0.49910	D	2.36	0.67893	M	-2.12	0.86283	D	-1.83	0.60665	N	0.394	0.43514	0.091	0.84014	D	0.644	0.87579	D	10	0.021394432	0.00511	T	0.070541	0.71031	D	0.387	0.70358	.	.	0.825146589094	0.82349	0.5487411580663297	0.54800	0.822820859791	0.67256	0.558284282684	0.47025	T	0.053396	0.29432	T	-0.214747	0.18716	T	-0.0867937	0.64402	T	0.150634680781521	0.17154	T	0.777022	0.40965	T	0.2536553	0.48389	0.16435963	0.38079	0.2536553	0.48389	0.16435963	0.38078	-3.459	0.15863	T	.	.	0.128	0.41602	B	.;.	.;.	4.353161	0.66884	25.0	0.99502015573602953	0.68089	0.91113	0.52886	D	AEFGBI	0.466752	0.51427	N	0.403966837354803	0.61640	4.367838	0.441813420585599	0.64193	4.668886	0.999999800609258	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	2.828000	0.47822	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.217	0.59293	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1472.33	33	chr2	168877265	.	T	G	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=772;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.141;SOR=0.778	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1248	18	0	1	0
chr2	168935313	168935313	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon23:c.A2927G:p.Q976R	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	285414	not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|ABCB11-related_disorder	MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0630471727963	0.0006	.	0.0005	0.0005	0.0002	0	0.0003	0.0007	0	0.0002	0.0004334	67	154602	rs199940188	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0003	0.0039	0.0034	0.0006	0.0002	0.0055	0	5.618e-05	0.0054	0.0002	0.0008	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0	6.534e-05	0.0072	0	9.411e-05	0	0.0003	0.0005	0	0.769	0.03392	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	0.025057	0.26156	N	0.418604	0.999595	0.20909	N	-1.72	0.00341	N	-2.31	0.87750	D	0.91	0.01595	N	0.148	0.15046	-0.8478	0.52120	T	0.211	0.57134	T	10	0.00719887	0.00164	T	0.063047	0.68844	D	0.161	0.41658	.	.	0.517322629239	0.51374	0.5683443633351937	0.56762	0.153187692452	0.17289	0.215077936649	0.01045	T	0.209351	0.56954	T	-0.444391	0.01219	T	-0.522079	0.20084	T	0.00169547739832152	0.00017	T	0.633437	0.24778	T	0.04173554	0.06202	0.068955116	0.14468	0.04173554	0.06201	0.068955116	0.14467	-0.944	0.00939	T	0.038667763551449054	0.00294	0.051	0.00179	B	.;.;.	.;.;.	0.023856	0.04450	1.174	0.5678593571559355	0.05627	0.10433	0.15941	N	AEFBCI	0.129535	0.24775	N	-1.26780466414973	0.04069	0.1829828	-1.0981464927333	0.07737	0.3775207	0.999871348006449	0.44625	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.78	2.24	0.27264	0.429000	0.21131	-0.177000	0.11169	-0.123000	0.13640	0.034000	0.20669	0.000000	0.08366	0.238000	0.22948	0.0:0.6217:0.0:0.3783	10.062	0.41452	847	0.35998	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	4918.81	35	chr2	168935313	.	T	C	4918.81	.	AC=2;AF=0.053;AN=38;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.63;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1193	18	1	0	0
chr2	168970082	168970082	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon15:c.A1772G:p.N591S	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	1	1494	27	0	0	27	0.00895522	.	.	.	191668	not_specified|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.291	.	0.0005	0.0309505	0.0158	0.0018	0.0007	0.0015	0	0.0001	0.0111	0.1122	0.013732	2123	154602	rs11568367	0.0068	0.0068	0.0037	0.0100	0.1081	0.0067	0.0067	0.1063	0.1055	0.0016	0.0002	0	0.0010	1.873e-05	0.0040	0.0001	0.0068	0.1081	0.0042	0.0042	0.0023	0.0061	0.1153	0.0039	0.0038	0.1074	0.1042	0.0014	0	0.0002	0	0.0012	0	0	7.36e-05	0.0019	0.1153	0.135	0.26192	T	0.2	0.27591	T	0.98	0.59353	D	0.883	0.62698	P	0.000000	0.84330	D	0.044538	1	0.81001	D	-0.67	0.02046	N	-0.6	0.71662	T	-0.84	0.22944	N	0.695	0.70000	-0.4305	0.71051	T	0.228	0.59346	T	10	0.0026473403	0.00041	T	.	.	.	0.291	0.61040	.	.	.	.	0.524109046432155	0.52334	0.510600942341	0.49165	0.542424082756	0.44788	T	0.153035	0.49370	T	-0.461527	0.00962	T	-0.348875	0.39334	T	0.017062296466863	0.00453	T	0.963704	0.86510	D	0.17271739	0.37979	0.18334891	0.41319	0.15815155	0.35596	0.16906022	0.38911	-5.47	0.41587	T	0.3565312259165439	0.45334	0.100	0.37501	B	.;.;.	.;.;.	4.004459	0.59035	24.1	0.99869880373179787	0.94726	0.92628	0.56160	D	AEFDBHCI	0.769332	0.70462	D	0.279990503235525	0.55134	3.677821	0.380140974523956	0.60340	4.220599	0.999999999963722	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	6.269000	0.72536	4.241000	0.42707	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.033	0.71382	843	0.36859	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.037879	0.05263	4833.83	33	chr2	168970082	.	T	C	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1066;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.5;SOR=0.559	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1479	17	0	2	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1044.25	38	chr2	169157427	.	A	G	1044.25	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.208;DP=749;ExcessHet=0.3672;FS=165.109;InbreedingCoeff=-0.1726;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.932;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:40:.:.:0,40,1325:.	12	0	3	4
chr2	169157428	169157428	-	GGGTGGTG	exonic	LRP2	.	frameshift insertion	LRP2:NM_004525:exon64:c.11961_11962insCACCACCC:p.I3988Hfs*22	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	682.79	51	chr2	169157428	.	T	TGGGTGGTG	682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.199;DP=919;ExcessHet=0.119;FS=92.682;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=1.58;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800:.	17	0	2	0
chr2	169157430	169157437	AATCCTCC	-	exonic	LRP2	.	frameshift deletion	LRP2:NM_004525:exon64:c.11953_11960del:p.G3985Yfs*14	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1061.96	27	chr2	169157429	.	AAATCCTCC	A	1061.96	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.366;DP=654;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3106;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.87;ReadPosRankSum=1.24;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:51:.:.:0,51,1331:.	7	0	2	10
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	G	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:10:.:.:0,10,1234:.	6	0	2	11
chr2	169157430	169157430	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	*	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:10:.:.:0,10,1234:.	6	0	2	11
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	G	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:4:.:.:0,4,1197:.	5	0	2	12
chr2	169157431	169157431	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	*	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:4:.:.:0,4,1197:.	5	0	2	12
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	G	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,618:.	3	0	2	14
chr2	169157433	169157433	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	*	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,618:.	3	0	2	14
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	G	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,618:.	4	0	2	13
chr2	169157434	169157434	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	*	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,618:.	4	0	2	13
chr2	169157436	169157436	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11954C:p.G3985A	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.094844139814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.963e-05	0.0021	9.586e-05	8.343e-05	0.0001	7.644e-05	7.154e-05	9.486e-05	8.871e-05	3.219e-05	0	3.955e-05	0	0	0	0.0001	7.09e-05	2.388e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.103814	0.999998	0.58761	D	2.815	0.81989	M	-1.85	0.84267	D	-3.44	0.67477	D	0.682	0.68863	0.380	0.88792	D	0.640	0.87434	D	10	0.6728179	0.70815	D	0.094844	0.76324	D	0.607	0.84559	0.496	0.58520	0.827288872919	0.82565	0.8308267525920461	0.83041	1.70071209603	0.90279	0.435361415148	0.29943	T	0.269024	0.64119	T	0.221167	0.75886	D	0.0799145	0.75572	D	0.987110495567322	0.77675	D	0.963604	0.86445	D	0.24565183	0.47526	0.27967104	0.53937	0.24565183	0.47526	0.27967104	0.53936	-6.662	0.51523	T	.	.	0.250	0.48448	B	.;.	.;.	3.405079	0.47205	22.4	0.99252938159557735	0.56924	0.93755	0.59098	D	AEFBI	0.403661	0.47726	N	0.431237016008458	0.63148	4.542994	0.420543337839202	0.62847	4.507159	0.998516418245828	0.37109	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.571000	0.60593	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.8707:0.1293:0.0	16.750	0.85343	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	300.54	38	chr2	169157436	.	C	G	300.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.843;DP=777;ExcessHet=0.3672;FS=156.251;InbreedingCoeff=-0.0868;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.92;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:81:.:.:0,81,1129:.	18	0	1	0
chr2	169157436	169157436	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	300.54	38	chr2	169157436	.	C	*	300.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.843;DP=777;ExcessHet=0.3672;FS=156.251;InbreedingCoeff=-0.0868;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.92;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:81:.:.:0,81,1129:.	17	0	2	0
chr2	169157437	169157437	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11953C:p.G3985R	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3508712	LRP2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.602	0.203609127207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	0.0002	0	1.38e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.103814	1	0.81001	D	2.815	0.81989	M	-1.86	0.84341	D	-4.75	0.80256	D	0.855	0.85132	0.339	0.88174	D	0.608	0.86081	D	10	0.7769506	0.77537	D	0.203609	0.86885	D	0.602	0.84291	0.524	0.62818	0.774801070231	0.77273	0.9005944074231604	0.90031	1.84831481728	0.92256	0.514880537987	0.40906	T	0.324763	0.69555	T	0.296866	0.82715	D	0.188651	0.82492	D	0.99759715795517	0.91939	D	0.960604	0.85218	D	0.49745262	0.66945	0.3962246	0.64269	0.49745262	0.66946	0.3962246	0.64269	-6.379	0.49345	T	.	.	0.381	0.58505	A	.;.	.;.	3.539775	0.49704	22.8	0.99893898806594628	0.96742	0.97088	0.72619	D	AEFBI	0.648092	0.62303	D	0.376887958852258	0.60170	4.203269	0.37201848805068	0.59845	4.165976	0.99903127065887	0.38264	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.0	0.66209	4.596000	0.60764	5.910000	0.51009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.135:0.865:0.0:0.0	16.096	0.80936	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	323.07	33	chr2	169157437	.	C	G	323.07	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.75;DP=671;ExcessHet=0.3672;FS=200.397;InbreedingCoeff=-0.1461;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:22:.:.:0,22,873:.	15	0	1	3
chr2	169157437	169157437	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	323.07	33	chr2	169157437	.	C	*	323.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.75;DP=671;ExcessHet=0.3672;FS=200.397;InbreedingCoeff=-0.1461;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:22:.:.:0,22,873:.	14	0	2	3
chr2	169173147	169173147	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon57:c.G11092A:p.V3698M	Donnai-Barrow syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	.	134938	not_provided|Donnai-Barrow_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.428	.	0.0057	0.00379393	0.0055	0.0013	0.0050	0	0.0062	0.0070	0.0077	0.0048	0.0053039	820	154602	rs34355135	0.0059	0.0059	0.0058	0.0060	0.0146	0.0058	0.0058	0.0121	0.0111	0.0014	0.0072	0.0054	2.519e-05	0.0079	0.0146	0.0062	0.0055	0.0045	0.0056	0.0056	0.0056	0.0056	0.0088	0.0053	0.0052	0.0076	0.0071	0.0010	0	0.0088	0.0086	0.0004	0.0078	0.0136	0.0077	0.0095	0.0033	0.124	0.27426	T	0.004	0.74150	D	0.607	0.39488	P	0.145	0.33871	B	0.000316	0.45977	N	0.187206	0.999972	0.53665	D	1.845	0.48678	L	-3.93	0.96111	D	-0.76	0.21215	N	0.254	0.28732	0.063	0.83487	D	0.724	0.90550	D	10	0.016275853	0.00343	T	.	.	.	0.428	0.73517	.	.	0.447959960469	0.44417	0.4909127697783522	0.49011	0.296777690307	0.32065	0.279854148626	0.07472	T	0.239095	0.60714	T	-0.301991	0.08472	T	-0.200027	0.54644	T	0.00806051794869114	0.00096	T	0.131687	0.01039	T	0.035712652	0.04255	0.064438894	0.12916	0.029464262	0.02445	0.064438894	0.12916	-6.947	0.53646	T	0.3203382336483285	0.41847	0.130	0.27880	B	.;.	.;.	0.786667	0.11567	8.162	0.89657563839000531	0.18986	0.66020	0.32934	D	AEFBI	0.187087	0.31438	N	-0.581812183638063	0.19498	1.020897	-0.703857200929259	0.16864	0.8941455	0.890710157411384	0.25842	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.59	-0.879	0.10076	1.303000	0.33075	-0.890000	0.07031	-0.828000	0.02899	0.592000	0.27682	0.000000	0.08366	0.710000	0.34452	0.1079:0.5032:0.209:0.1798	3.473	0.07141	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.015152	0.008152	0.002924	0.000000	0.008621	0.018293	0.003788	0.02632	1625.33	36	chr2	169173147	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=846;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.329;SOR=0.853	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr2	169174129	169174129	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon56:c.G10804A:p.A3602T	Donnai-Barrow syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	134937	not_specified|Donnai-Barrow_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.421	.	0.0105	0.00878594	0.0030	0.0306	0.0022	0	0	0.0002	0.0011	0.0004	0.0027619	427	154602	rs144081819	0.0012	0.0012	0.0013	0.0011	0.0361	0.0011	0.0011	0.0345	0.0338	0.0361	0.0019	0	7.557e-05	3.744e-05	0.0078	0.0002	0.0023	0.0003	0.0096	0.0097	0.0103	0.0090	0.0330	0.0092	0.0091	0.0316	0.0310	0.0330	0	0.0032	0	0.0002	0	0.0034	0.0003	0.0109	0.0004	0.193	0.20912	T	0.349	0.17531	T	0.999	0.77913	D	0.935	0.67021	D	0.000000	0.84330	N	0.049433	0.999999	0.58761	D	0.81	0.20779	L	-3.77	0.95595	D	-1.03	0.27052	N	0.265	0.30004	0.364	0.88551	D	0.689	0.89272	D	10	0.00956285	0.00215	T	.	.	.	0.421	0.73005	.	.	0.51743518642	0.51388	0.30351578916579286	0.30264	0.260949431281	0.28653	0.348758071661	0.17740	T	0.171379	0.51948	T	-0.373346	0.03428	T	-0.285377	0.46250	T	0.017821982010078	0.00510	T	0.785321	0.42297	T	0.07238729	0.16097	0.1601054	0.37307	0.09768484	0.23029	0.15630835	0.36601	-5.602	0.42810	T	0.33146591189512603	0.42947	0.079	0.07318	B	.;.	.;.	2.695267	0.35192	19.83	0.98852393245789272	0.47322	0.90017	0.50872	D	AEFDBIJ	0.557791	0.56727	D	0.140152050072271	0.48345	3.048033	0.130702981206468	0.46126	2.863866	0.999998356198931	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.41	4.54	0.55220	1.743000	0.37883	2.729000	0.34373	-0.808000	0.03092	0.985000	0.35982	0.993000	0.31925	0.440000	0.27671	0.0:0.9309:0.0:0.0691	15.008	0.71185	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.05263	4589.81	34	chr2	169174129	.	C	T	4589.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=1.298	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	1	0	0
chr2	169181452	169181452	T	C	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon52:c.A10165G:p.I3389V	Donnai-Barrow syndrome, Autosomal recessive	1	1487	32	2	0	36	0.0119601	.	.	.	499026	not_specified|Inborn_genetic_diseases|LRP2-related_disorder|Donnai-Barrow_syndrome|not_provided|DSD_incomplete_virilization	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.641	.	0.0004	0.00299521	0.0021	0.0003	0.0004	0.0001	0.0003	0.0010	0.0033	0.0101	0.001824	282	154602	rs140272085	0.0012	0.0012	0.0009	0.0016	0.0101	0.0012	0.0011	0.0096	0.0094	5.976e-05	0.0004	0.0104	5.038e-05	0.0004	0.0073	0.0004	0.0022	0.0101	0.0009	0.0009	0.0008	0.0010	0.0106	0.0008	0.0007	0.0083	0.0074	2.404e-05	0	0.0004	0.0078	0	9.406e-05	0.0068	0.0006	0.0019	0.0106	0.103	0.30097	T	0.002	0.79402	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.035	0.55589	M	-3.08	0.92560	D	-0.95	0.25332	N	0.489	0.52297	0.846	0.94983	D	0.858	0.95264	D	10	0.01166299	0.00254	T	.	.	.	0.641	0.86333	.	.	0.582593569427	0.57931	0.7600378516161672	0.75951	0.74352935063	0.63396	0.468133062124	0.34424	T	0.437069	0.78323	T	-0.190964	0.22116	T	-0.039264	0.67752	D	0.0460502854988149	0.04793	T	0.940306	0.77472	D	0.25344846	0.48367	0.27967116	0.53937	0.20892246	0.43143	0.2457165	0.50065	-7.168	0.55251	T	0.4877398244537198	0.56520	0.147	0.32372	B	.;.	.;.	3.744492	0.53636	23.4	0.99867159558426877	0.94547	0.98423	0.82623	D	AEFBI	0.931006	0.91917	D	0.72441804123133	0.81233	7.474422	0.682306101991986	0.81035	7.433764	0.999999997500825	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.7	5.7	0.88690	8.017000	0.88732	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.724000	0.34901	0.0:0.0:0.0:1.0	15.968	0.79778	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.000000	0.020468	0.000000	0.008621	0.021341	0.015152	0.02632	1418.33	36	chr2	169181452	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.523;DP=721;ExcessHet=0;FS=1.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.157;SOR=0.951	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1190	18	0	1	0
chr2	169182251	169182251	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon51:c.G9914A:p.R3305H	Donnai-Barrow syndrome, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	697149	Donnai-Barrow_syndrome|not_specified|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.435	.	0.0003	0.00319489	0.0032	0.0002	0.0248	0.0096	0.0003	0.0002	0.0033	0.0003	0.0031047	480	154602	rs3213760	0.0013	0.0013	0.0015	0.0012	0.0230	0.0013	0.0013	0.0218	0.0213	0.0004	0.0230	0.0017	0.0127	0.0002	0.0002	0.0002	0.0013	0.0003	0.0016	0.0016	0.0015	0.0017	0.0114	0.0014	0.0014	0.0100	0.0095	0.0001	0	0.0114	0.0014	0.0060	9.418e-05	0	0.0003	0.0024	0.0008	0.007	0.59928	D	0.004	0.74150	D	0.997	0.70673	D	0.787	0.57594	P	0.004183	0.34013	N	0.303069	0.844698	0.35123	D	2.325	0.66631	M	-4.09	0.96627	D	-3.29	0.65742	D	0.262	0.29659	0.473	0.90159	D	0.785	0.92719	D	10	0.008709729	0.00197	T	.	.	.	0.435	0.74022	.	.	0.734644564284	0.73227	0.6621995955557346	0.66156	0.944579039114	0.72368	0.301373541355	0.10605	T	0.469949	0.80327	T	-0.281804	0.10477	T	-0.158644	0.58474	T	0.0289044028211211	0.01823	T	0.79802	0.44234	T	0.11035952	0.26086	0.07962277	0.17942	0.1158959	0.27343	0.083352394	0.19094	-5.149	0.38419	T	0.5677118814046596	0.63506	0.106	0.19720	B	.;.	.;.	2.020038	0.25669	16.85	0.99772849686480314	0.86088	0.68942	0.33994	D	AEFBI	0.246583	0.36732	N	-0.025121886081504	0.40720	2.423098	-0.0832017897664596	0.36083	2.095505	0.338798587632329	0.19562	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.03	3.19	0.35720	0.637000	0.24348	0.541000	0.19334	-0.178000	0.10482	1.000000	0.71638	0.886000	0.27767	0.002000	0.04165	0.3481:0.3998:0.0:0.252	3.382	0.06835	903	0.23940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.003106	0.000000	0.02632	1604.33	38	chr2	169182251	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.352;DP=801;ExcessHet=0;FS=6.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.488;SOR=1.21	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1462	18	0	1	0
chr2	169207167	169207167	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon39:c.C6553T:p.L2185F	Donnai-Barrow syndrome, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	.	719394	Donnai-Barrow_syndrome|LRP2-related_disorder|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.674	0.0614650332293	0.0003	0.000599042	0.0006	0	0.0002	0	0	0.0004	0.0011	0.0028	0.000608	94	154602	rs143884041	0.0007	0.0007	0.0007	0.0008	0.0024	0.0007	0.0007	0.0021	0.0020	5.983e-05	0.0002	0	0	0	0.0007	0.0007	0.0009	0.0024	0.0005	0.0005	0.0004	0.0006	0.0014	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0007	0	0	0	0	0.0007	0.0005	0.0014	0.009	0.57480	D	0.058	0.46182	T	0.996	0.68779	D	0.905	0.64260	P	0.000009	0.62929	D	0.064405	0.999995	0.58761	D	1.245	0.31408	L	-3.34	0.93975	D	-2.86	0.60188	D	0.29	0.32812	0.561	0.91386	D	0.784	0.92652	D	10	0.033501506	0.01528	T	0.061465	0.68339	D	0.674	0.87965	.	.	0.509200194529	0.50559	0.6913785171807288	0.69077	0.290016544937	0.31410	0.529114246368	0.42909	T	0.284148	0.65692	T	-0.184848	0.23016	T	-0.0432241	0.67483	D	0.135400494861176	0.15872	T	0.860314	0.55333	D	0.28326744	0.51360	0.2930931	0.55338	0.24487591	0.47441	0.24835414	0.50384	-3.227	0.12813	T	0.35778444766682344	0.45449	0.143	0.31431	B	.;.	.;.	3.954204	0.57946	23.9	0.99728681986174139	0.82619	0.94226	0.60497	D	AEFBI	0.414439	0.48371	N	0.610669509985455	0.73848	6.033732	0.6429634121047	0.78087	6.80636	0.975041573932338	0.29597	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.98	5.1	0.68917	4.211000	0.58304	9.912000	0.82435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0681:0.0:0.7987:0.1332	10.286	0.42747	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1655.33	41	chr2	169207167	.	G	A	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.289;DP=755;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.216;SOR=0.514	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	18	0	1	0
chr2	169211992	169211992	T	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon37:c.A6256T:p.T2086S	Donnai-Barrow syndrome, Autosomal recessive	1	1489	31	1	0	33	0.0109598	.	.	.	282716	Donnai-Barrow_syndrome|LRP2-related_disorder|DSD_incomplete_virilization|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|.|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0004	0.00219649	0.0015	9.694e-05	0.0002	0.0001	0	0.0010	0.0033	0.0066	0.0013777	213	154602	rs146149181	0.0010	0.0010	0.0008	0.0012	0.0087	0.0010	0.0009	0.0068	0.0061	2.988e-05	0.0002	0.0098	2.519e-05	0	0.0087	0.0004	0.0019	0.0066	0.0007	0.0007	0.0007	0.0007	0.0071	0.0006	0.0005	0.0052	0.0045	0	0	0.0001	0.0078	0	0	0.0136	0.0005	0.0014	0.0071	0.045	0.40832	D	0.072	0.43344	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.049477	0.840605	0.28636	N	-0.935	0.01286	N	-2.73	0.90679	D	0.64	0.02368	N	0.097	0.07811	-0.3355	0.73974	T	0.459	0.78992	T	10	0.0057308376	0.00128	T	.	.	.	0.319	0.64112	0.34	0.33141	0.262679179196	0.25893	0.401373352216543	0.40052	0.213517207137	0.23864	0.333176523447	0.15413	T	0.062169	0.31846	T	-0.420928	0.01687	T	-0.374521	0.36360	T	0.041402267804435	0.03945	T	0.754725	0.37732	T	0.12659773	0.29647	0.14224476	0.33846	0.12102871	0.28469	0.18182682	0.41070	-3.808	0.20924	T	0.14272205938023666	0.16163	0.115	0.23041	B	.;.	.;.	2.518492	0.32539	19.07	0.9836469207651185	0.40678	0.91023	0.52710	D	AEFBI	0.571408	0.57540	D	-0.393648514411365	0.25693	1.396717	-0.152797696815702	0.33301	1.903465	0.999682378136073	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	4.75	0.59954	3.807000	0.55295	5.973000	0.52033	-0.201000	0.08892	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.925:0.0:0.075	13.767	0.62488	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009577	0.000000	0.000000	0.017544	0.000000	0.025862	0.018405	0.011364	0.05263	2601.83	34	chr2	169211992	.	T	A	2601.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.93;DP=772;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.633;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	17	0	2	0
chr2	169307305	169307305	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon4:c.G403A:p.D135N	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283583	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.698	.	0.0017	0.000998403	0.0024	0.0038	8.649e-05	0.0015	0.0206	0.0014	0.0099	0.0002	0.0019793	306	154602	rs142594441	0.0011	0.0011	0.0012	0.0011	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0.0003	0	0.0007	0.0218	0	0.0002	0.0013	0.0003	0.0031	0.0031	0.0021	0.0042	0.0037	0.0029	0.0028	0.0033	0.0031	0.0037	0	0.0003	0	0.0017	0.0258	0	0.0004	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.665	0.77964	M	-4.36	0.97317	D	-2.68	0.64710	D	0.735	0.73555	1.084	0.99014	D	0.954	0.98517	D	9	0.013331026	0.00283	T	.	.	.	0.698	0.89099	.	.	0.915887886028	0.91504	0.8613836590095767	0.86102	0.861664930379	0.68989	0.419243574142	0.27732	T	0.537545	0.89015	D	-0.120603	0.33026	T	0.053466	0.73813	D	0.0584209133659598	0.06918	T	0.957804	0.85835	D	0.63745034	0.74695	0.62446314	0.78113	0.6572696	0.75754	0.53442425	0.73098	-5.044	0.37314	T	.	.	0.174	0.46608	B	.;.;.	.;.;.	3.575810	0.50385	22.9	0.99886242326216323	0.96126	0.99203	0.92752	D	AEFI	0.778945	0.71130	D	0.528680605497761	0.68793	5.266365	0.398084566915532	0.61446	4.34487	0.999998937943014	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.216000	0.65079	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.0:1.0:0.0:0.0	19.219	0.93775	874	0.30607	EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1461.33	35	chr2	169307305	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=834;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.67;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	170040979	170040979	C	T	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon32:c.C4654T:p.R1552C	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0134403443086	0.0007	0.000199681	0.0004	0.0005	0	0.0002	0	0.0006	0	0	0.0003622	56	154602	rs139002361	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	0.0010	2.241e-05	0	0.0002	1.878e-05	0.0016	0.0003	0.0004	3.482e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0003	0	0	0	0.0004	9.434e-05	0	0.0005	0.0009	0	0.052	0.41915	T	0.08	0.41913	T	0.001	0.07471	B	0.0	0.01387	B	0.057595	0.22469	N	0.527727	0.549969	0.32124	D	1.61	0.41143	L	0.74	0.50459	T	-2.36	0.57762	N	0.278	0.31478	-0.9698	0.37242	T	0.063	0.26279	T	10	0.03970158	0.02481	T	0.01344	0.32845	T	0.065	0.18881	.	.	0.043077524339	0.03247	0.3162960665546384	0.31542	0.168985823448	0.19054	0.254804909229	0.04291	T	0.197541	0.55425	T	-0.330245	0.06094	T	-0.349117	0.39307	T	0.0322787239209104	0.02352	T	0.934307	0.76258	D	0.09703224	0.22865	0.08901421	0.20790	0.09703224	0.22865	0.08901421	0.20789	-2.032	0.03304	T	.	.	0.071	0.20547	B	.;.;.	.;.;.	3.132758	0.42339	21.5	0.98748253335093261	0.45618	0.73328	0.35870	D	AEFBI	0.293344	0.40399	N	-0.220276112948713	0.32303	1.820285	-0.0901815128970536	0.35795	2.075193	0.925423525106949	0.26815	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.28	3.39	0.37919	2.024000	0.40670	1.743000	0.28415	0.549000	0.26987	0.951000	0.33123	0.921000	0.28324	0.978000	0.57271	0.3055:0.6153:0.0:0.0792	7.245	0.25290	492	0.76569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1405.33	33	chr2	170040979	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=741;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.04;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	170055568	170055568	C	T	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon33:c.C4769T:p.A1590V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00517924039984	.	.	2.487e-05	0	8.694e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs748322148	1.917e-05	1.915e-05	1.634e-05	2.201e-05	0.0001	1.329e-05	1.144e-05	8.001e-05	6.238e-05	8.967e-05	0.0001	0	2.521e-05	0	0	4.499e-06	3.314e-05	0.0001	6.574e-06	6.568e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.304	0.23095	T	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.724377	0.06332	N	1.118720	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.9	0.31778	N	0.136	0.15187	-0.9821	0.34515	T	0.065	0.27017	T	10	0.0885379	0.15253	T	0.005179	0.13187	T	0.084	0.24469	0.467	0.53891	0.143184338766	0.13958	0.09402160008789225	0.09334	0.122279640433	0.13775	0.262906104326	0.05240	T	0.093079	0.39137	T	-0.424667	0.01598	T	-0.592736	0.13430	T	0.9537513256073	0.64102	D	0.711029	0.32195	T	0.020309428	0.00585	0.036905102	0.03233	0.020309428	0.00584	0.036905102	0.03232	-2.795	0.08138	T	.	.	0.069	0.11076	B	.;.;.	.;.;.	0.181632	0.05692	2.138	0.8207544798587828	0.14006	0.08060	0.14034	N	AEFBI	0.055743	0.10248	N	-1.30308637407349	0.03640	0.1629511	-1.4744069721704	0.02556	0.1177576	0.999999374438249	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.39	-7.66	0.01137	0.631000	0.24258	-0.316000	0.10002	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.2157:0.6472:0.0:0.1371	11.378	0.48982	456	0.79013	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1136.33	34	chr2	170055568	.	C	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=748;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=2.32;SOR=0.833	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	170392418	170392418	A	T	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon16:c.A1714T:p.I572L,MYO3B:NM_138995:exon16:c.A1714T:p.I572L	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0543397664191	8.2e-05	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs376020126	8.069e-05	8.824e-05	4.521e-05	0.0001	0.0012	6.856e-05	6.407e-05	0.0010	0.0009	0	0	0	0	0	0.0005	6.335e-06	0.0001	0.0012	7.876e-05	7.874e-05	3.853e-05	0.0001	0.0012	4.492e-05	3.509e-05	0.0005	0.0004	2.405e-05	0	6.535e-05	0	0	0	0	4.409e-05	0.0005	0.0012	0.245	0.17410	T	0.695	0.05825	T	0.064	0.23455	B	0.054	0.25828	B	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	1.205	0.30389	L	-2.34	0.87989	D	-0.63	0.18459	N	0.438	0.48872	-0.1757	0.78288	T	0.540	0.83022	D	10	0.059693575	0.07214	T	0.05434	0.65820	D	0.375	0.69358	0.45	0.51121	0.824748956951	0.82309	0.45507552544827956	0.45425	0.0778573199524	0.08765	0.502373933792	0.39159	T	0.097244	0.66340	T	-0.184082	0.23129	T	-0.0827488	0.64702	T	0.147091132136939	0.16870	T	0.880312	0.59828	D	0.34695888	0.56829	0.26999685	0.52886	0.34695888	0.56830	0.26999685	0.52885	-7.965	0.60831	D	.	.	0.137	0.33550	B	.;.;.	.;.;.	3.342137	0.46062	22.2	0.98106138360869055	0.38310	0.98913	0.88541	D	AEFI	0.911075	0.86985	D	0.0552090966079607	0.44383	2.713334	0.244380502071744	0.52331	3.408598	0.999999909314895	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.66	5.66	0.87293	7.454000	0.79769	8.152000	0.76714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	15.902	0.79172	385	0.83500	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	978.33	37	chr2	170392418	.	A	T	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=730;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.925;SOR=1.274	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr2	170466606	170466606	G	A	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.G2909A:p.R970Q,MYO3B:NM_138995:exon25:c.G2909A:p.R970Q	.	429	1086	6	0	1	7	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0002	0.00159744	0.0009	0.0004	0.0025	0.0001	0	0.0008	0.0044	0.0007	0.0009314	144	154602	rs35169479	0.0008	0.0008	0.0007	0.0008	0.0142	0.0007	0.0007	0.0117	0.0108	0.0006	0.0028	0	7.557e-05	0	0.0142	0.0006	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0057	0.0010	0.0009	0.0047	0.0044	0.0003	0	0.0057	0	0.0002	0	0.0170	0.0008	0.0028	0.0006	0.413	0.13610	T	0.659	0.06533	T	0.006	0.23190	B	0.002	0.17295	B	0.128727	0.18720	N	0.556293	0.998107	0.22348	N	1.125	0.28843	L	-2.2	0.86888	D	-1.24	0.31375	N	0.235	0.26837	-0.7834	0.56110	T	0.323	0.69143	T	10	0.008142799	0.00185	T	.	.	.	0.134	0.36365	.	.	0.808193943808	0.80639	0.17938255528870656	0.17857	0.0864879405707	0.09766	0.244054973125	0.03167	T	0.113048	0.68737	T	-0.380408	0.03097	T	-0.316872	0.42916	T	0.00468234962152995	0.00050	T	0.770523	0.41150	T	0.06649662	0.14312	0.058361154	0.10769	0.06649662	0.14312	0.058361154	0.10769	-7.359	0.56615	T	.	.	0.066	0.03773	B	.;.;.	.;.;.	1.236001	0.16311	12.46	0.98999556298753755	0.50127	0.23319	0.22037	N	AEFDBI	0.129214	0.24730	N	-0.551617342789493	0.20433	1.077107	-0.437994493513972	0.23891	1.305305	0.0109513059057003	0.12108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.22	2.79	0.31792	0.464000	0.21700	0.163000	0.15428	-0.123000	0.13640	0.057000	0.21666	0.000000	0.08366	0.678000	0.33484	0.4281:0.0:0.5719:0.0	7.870	0.28723	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1658.33	35	chr2	170466606	.	G	A	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=760;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.017;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr2	170466665	170466665	C	T	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.C2968T:p.R990C,MYO3B:NM_138995:exon25:c.C2968T:p.R990C	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.254186200516	0.0023	0.000599042	0.0017	0.0006	0.0004	0	0.0009	0.0025	0.0011	0.0010	0.0017464	270	154602	rs34236931	0.0031	0.0031	0.0032	0.0030	0.0037	0.0030	0.0030	0.0036	0.0036	0.0004	0.0007	3.826e-05	0.0001	0.0017	0.0010	0.0037	0.0021	0.0013	0.0020	0.0020	0.0023	0.0017	0.0036	0.0018	0.0018	0.0033	0.0031	0.0007	0	0.0007	0	0	0.0012	0	0.0036	0.0010	0.0015	0.0	0.91255	D	0.026	0.55759	D	0.999	0.77913	D	0.967	0.71530	D	0.015499	0.28233	N	0.370135	0.999925	0.51308	D	2.125	0.59049	M	-0.87	0.74583	T	-6.43	0.91311	D	0.6	0.61849	0.030	0.82854	D	0.529	0.82487	D	10	0.034805417	0.01703	T	0.254186	0.89241	D	0.401	0.71479	.	.	0.890682411703	0.88960	0.6898158765870739	0.68921	0.48989108763	0.47742	0.258893281221	0.04759	T	0.278714	0.86089	T	-0.30382	0.08303	T	-0.211929	0.53511	T	0.0614848311045679	0.07400	T	0.967603	0.90930	D	0.4664482	0.65072	0.47311696	0.69458	0.4664482	0.65072	0.47311696	0.69459	-11.058	0.81890	D	.	.	0.160	0.35310	B	.;.;.	.;.;.	3.669155	0.52162	23.2	0.99924551658918237	0.98980	0.69000	0.34016	D	AEFBI	0.573766	0.57682	D	0.282619946123107	0.55266	3.690878	0.179657026851009	0.48733	3.085337	0.0070553516480583	0.11374	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.05	3.12	0.34986	1.225000	0.32154	0.904000	0.22573	-0.223000	0.07921	0.020000	0.19661	0.004000	0.18990	0.950000	0.49671	0.5436:0.4564:0.0:0.0	12.768	0.56781	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	884.33	35	chr2	170466665	.	C	T	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=712;ExcessHet=0;FS=3.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.236;SOR=1.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr2	172070913	172070913	T	C	exonic	METAP1D	.	nonsynonymous SNV	METAP1D:NM_001322278:exon6:c.T193C:p.Y65H,METAP1D:NM_001322279:exon6:c.T193C:p.Y65H,METAP1D:NM_199227:exon6:c.T547C:p.Y183H	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.022154152248	0.0004	0.000399361	0.0013	0.0002	0.0003	0	0.0002	0.0015	0	0.0032	0.0011902	184	154602	rs61996337	0.0010	0.0010	0.0009	0.0011	0.0063	0.0009	0.0009	0.0047	0.0041	0.0002	0.0009	0.0029	0	0.0002	0.0063	0.0008	0.0013	0.0032	0.0011	0.0011	0.0010	0.0012	0.0031	0.0010	0.0009	0.0021	0.0019	7.215e-05	0.0154	0.0027	0.0029	0.0002	0	0.0034	0.0011	0.0009	0.0031	0.102	0.30235	T	0.107	0.37730	T	0.003	0.11197	B	0.013	0.16460	B	0.000588	0.43095	D	0.239007	0.935139	0.37111	D	1.285	0.32305	L	-1.28	0.79376	T	-2.58	0.55662	D	0.722	0.72388	-0.5578	0.66488	T	0.336	0.70289	T	10	0.021490395	0.00515	T	0.022154	0.45019	T	0.274	0.59007	.	.	0.650641314552	0.64773	0.7661109053565551	0.76560	0.197340261225	0.22113	0.698041439056	0.66862	T	0.329785	0.70005	T	-0.323718	0.06598	T	-0.242079	0.50596	T	0.0186510405068825	0.00579	T	0.918508	0.70719	D	0.34495115	0.56671	0.23907225	0.49246	0.34495115	0.56671	0.23907225	0.49245	-3.874	0.21913	T	.	.	0.093	0.14201	B	.	.	2.978645	0.39725	21.0	0.9941323607349688	0.63405	0.90686	0.52070	D	AEFCI	0.410807	0.48153	N	-0.0880321578450131	0.37918	2.21295	0.118339771342983	0.45487	2.810997	0.999982482930368	0.51787	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	5.229000	0.65144	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.030	0.71363	792	0.45996	Peptidase M24	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1124.33	33	chr2	172070913	.	T	C	1124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.737;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr2	172489630	172489630	A	G	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon20:c.A2651G:p.Q884R,ITGA6:NM_001079818:exon20:c.A2651G:p.Q884R,ITGA6:NM_001316306:exon20:c.A2294G:p.Q765R	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	283699	Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia|ITGA6-related_disorder|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0116222495212	0.0006	0.000399361	0.0009	0.0002	0.0010	0	0	0.0010	0.0011	0.0012	0.0007891	122	154602	rs61757096	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0005	0.0023	0.0019	0.0004	0.0009	0.0039	2.52e-05	0	0.0035	0.0005	0.0010	0.0010	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0014	0.0012	0.0001	0	0.0019	0.0029	0	9.411e-05	0.0102	0.0008	0.0014	0.0006	1.0	0.00964	T	0.546	0.09555	T	0.0	0.02946	B	0.002	0.06944	B	0.328170	0.04114	N	1.343860	1	0.08975	N	0.205	0.09354	N	0.8	0.48769	T	0.2	0.06612	N	0.054	0.05799	-1.0412	0.16951	T	0.076	0.30366	T	10	0.0053096414	0.00116	T	0.011622	0.29427	T	0.063	0.18251	.	.	0.350524144436	0.34660	0.49612528534616235	0.49533	0.431060661898	0.43325	0.221626952291	0.01406	T	0.049281	0.28261	T	-0.627636	0.00099	T	-0.724773	0.04568	T	0.00384265592605782	0.00041	T	0.723828	0.35200	T	0.019697199	0.00506	0.031792473	0.01818	0.019697199	0.00506	0.031792473	0.01818	-5.632	0.45579	T	.	.	0.071	0.04238	B	.;.;.;.;.	.;.;.;.;.	0.781819	0.11518	8.118	0.62217049621971721	0.06906	0.13839	0.18080	N	AEFBI	0.119270	0.23286	N	-1.08669563900196	0.06887	0.3183668	-1.06364687253851	0.08425	0.414185	0.731888225338986	0.23060	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	0.092	0.13781	0.146000	0.16000	0.147000	0.15245	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.600000	0.31387	0.3559:0.5067:0.1373:0.0	8.073	0.29863	764	0.49969	.;.;Integrin alpha-2;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	768.33	35	chr2	172489630	.	A	G	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=676;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.342;SOR=1.032	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1113	18	0	1	0
chr2	173955644	173955644	T	C	exonic	SP3	.	nonsynonymous SNV	SP3:NM_001017371:exon2:c.A664G:p.I222V,SP3:NM_001172712:exon4:c.A859G:p.I287V,SP3:NM_003111:exon4:c.A868G:p.I290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00518866072814	.	0.000399361	5.769e-05	0	8.639e-05	0	0	8.996e-05	0	0	5.82e-05	9	154602	rs201150383	3.489e-05	3.489e-05	3.539e-05	3.438e-05	0.0002	2.697e-05	2.438e-05	4.358e-05	2.767e-05	0	0.0001	0	0	1.873e-05	0.0002	3.597e-05	6.623e-05	0	3.938e-05	3.937e-05	3.854e-05	4.026e-05	0.0002	1.714e-05	1.128e-05	5.278e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0	0.638	0.05031	T	1.0	0.01155	T	0.146	0.27821	B	0.057	0.26280	B	0.000002	0.62929	D	0.102098	0.98338	0.40549	D	0.12	0.08593	N	3.6	0.04494	T	0.15	0.05310	N	0.093	0.07262	-0.8440	0.52379	T	0.006	0.01907	T	10	0.042162478	0.02940	T	0.005189	0.13218	T	0.092	0.26621	.	.	0.138757226776	0.13463	0.36653202909885685	0.36567	0.245544508446	0.27076	0.61973464489	0.55691	T	0.038968	0.25026	T	-0.433265	0.01417	T	-0.674228	0.07340	T	0.055578759396549	0.06454	T	0.857714	0.54741	D	0.030394685	0.02696	0.059755594	0.11269	0.030394685	0.02695	0.059755594	0.11269	-3.309	0.13853	T	.	.	0.238	0.47206	B	.;.;.	.;.;.	2.615074	0.33970	19.50	0.97045618919567855	0.32130	0.80281	0.39960	D	AEFGBCI	0.227873	0.35162	N	-0.298243301299277	0.29216	1.618246	-0.0364780536297816	0.38080	2.238562	0.999999904531121	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	2.874000	0.48181	6.147000	0.54138	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1437:0.8563	12.057	0.52840	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1423.33	34	chr2	173955644	.	T	C	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.434;DP=763;ExcessHet=0;FS=3.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.054;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr2	174246778	174246778	G	A	exonic	OLA1	.	nonsynonymous SNV	OLA1:NM_001328688:exon2:c.C38T:p.P13L,OLA1:NM_013341:exon2:c.C38T:p.P13L	.	.	.	.	.	.	.	.	.	.	.	2346994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0115052927581	.	0.000199681	0.0001	9.737e-05	0.0003	0	0.0002	0.0001	0	0	0.0001552	24	154602	rs557878124	0.0001	0.0001	0.0001	0.0001	0.0021	9.342e-05	8.825e-05	0.0012	0.0009	0.0011	0.0002	0	0	5.623e-05	0.0021	5.939e-05	0.0005	2.324e-05	0.0001	0.0001	9e-05	0.0001	0.0001	7.091e-05	5.747e-05	6.805e-05	5.088e-05	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.152	0.38185	T	0.198	0.35710	T	0.0	0.27095	B	0.001	0.26147	B	0.003744	0.34535	N	0.334108	0.998679	0.81001	D	0.895	0.22405	L	0.98	0.42888	T	-2.19	0.63090	N	0.258	0.29544	-1.0860	0.06227	T	0.054	0.22997	T	10	0.06359863	0.08309	T	0.011505	0.29187	T	0.037	0.09474	0.368	0.37687	0.411799315854	0.40795	0.4551860655419165	0.45436	0.357537245228	0.37467	0.651178717613	0.60153	T	0.441854	0.78623	T	-0.340839	0.05330	T	-0.442655	0.28511	T	0.0444258893091164	0.04497	T	0.875013	0.58582	D	0.067477554	0.14615	0.069918424	0.14791	0.067477554	0.14615	0.069918424	0.14790	-7.074	0.59720	T	.	.	0.104	0.25624	B	.;.;.;.	.;.;.;.	3.144032	0.42536	21.6	0.97503598832116423	0.34309	0.81644	0.41006	D	AEFDBI	0.253495	0.37299	N	-0.228325894772806	0.31976	1.798461	-0.0297092537754384	0.38380	2.260333	0.999996126984592	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.67	3.7	0.41607	3.315000	0.51661	6.294000	0.55403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0952:0.0:0.5558:0.3489	6.236	0.19971	883	0.28872	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004550	0.000000	0.010870	0.005882	0.050000	0.000000	0.000000	0.000000	0.02632	1410.33	34	chr2	174246778	.	G	A	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.456;DP=803;ExcessHet=0;FS=2.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.836;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	97.14	75	chr2	174877875	.	C	T	97.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.512;DP=1203;ExcessHet=0;FS=29.875;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.83;SOR=4.946	GT:AD:DP:GQ:PL	0/0:69,0:69:53:0,53,1480	16	0	1	2
chr2	175964413	175964413	G	C	exonic	LNPK	.	nonsynonymous SNV	LNPK:NM_001305011:exon6:c.C83G:p.P28R,LNPK:NM_001305010:exon7:c.C458G:p.P153R,LNPK:NM_001305008:exon8:c.C650G:p.P217R,LNPK:NM_001305009:exon8:c.C452G:p.P151R,LNPK:NM_030650:exon8:c.C452G:p.P151R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00340863451272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.16091	T	0.537	0.13634	T	0.022	0.18677	B	0.009	0.14300	B	0.009877	0.30165	N	0.384655	0.564945	0.32244	D	0.49	0.13296	N	.	.	.	-1.28	0.32185	N	0.286	0.36359	-0.9222	0.45252	T	0.066	0.27191	T	9	0.092626005	0.16326	T	0.003409	0.07664	T	0.021	0.04004	0.254	0.19378	0.507213507908	0.50361	0.17800671877754637	0.17719	0.146693973692	0.16557	0.441379189491	0.30766	T	0.18572	0.53878	T	-0.139487	0.29973	T	-0.43814	0.29017	T	0.346794277429581	0.26892	T	0.867913	0.56927	D	0.115037434	0.27150	0.08821551	0.20554	0.115037434	0.27150	0.08821551	0.20553	-5.836	0.44887	T	.	.	0.131	0.33412	B	.;.;.	.;.;.	3.844572	0.55656	23.6	0.85514439050494717	0.15940	0.74626	0.36511	D	AEFDBHCI	0.332882	0.43215	N	0.0101475605445195	0.42315	2.547338	0.167607134049056	0.48084	3.029086	0.505279178688695	0.20976	0.656854	0.48797	0	0.69481	0.67340	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	5.2	4.31	0.50718	2.512000	0.45146	8.699000	0.78102	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.998000	0.85391	0.2267:0.0:0.7733:0.0	7.950	0.29174	524	0.74079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	731.33	36	chr2	175964413	.	G	C	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=668;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.475;SOR=0.315	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	18	0	1	0
chr2	176107440	176107440	G	T	exonic	HOXD11	.	nonsynonymous SNV	HOXD11:NM_021192:exon1:c.G85T:p.A29S	.	358	1128	36	0	0	36	0.0157068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0006	0.00299521	0.0027	0	0.0004	0.0001	0.0005	0.0009	0.0069	0.0149	0.0021604	334	154602	rs149509317	0.0012	0.0012	0.0008	0.0016	0.0134	0.0012	0.0011	0.0128	0.0125	5.974e-05	0.0002	0.0051	0	0.0005	0.0099	0.0003	0.0015	0.0134	0.0009	0.0009	0.0006	0.0012	0.0149	0.0008	0.0007	0.0121	0.0111	0.0001	0	0.0003	0.0035	0	0.0008	0.0204	0.0005	0	0.0149	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.123823	0.18903	U	0.279028	0.736799	0.29775	N	-0.865	0.01458	N	1.23	0.36872	T	1.7	0.00577	N	0.089	0.06720	-0.9750	0.36125	T	0.020	0.08500	T	10	0.0053617954	0.00118	T	.	.	.	0.079	0.23065	.	.	0.352476196916	0.34857	0.1524045203916383	0.15162	.	.	0.786069333553	0.79845	T	0.055075	0.29904	T	-0.610507	0.00126	T	-0.638051	0.09811	T	0.0383724460094429	0.03398	T	0.854215	0.54045	D	0.04982427	0.08905	0.056197006	0.09996	0.04982427	0.08905	0.056197006	0.09995	-3.976	0.23443	T	.	.	0.075	0.05317	B	.	.	3.357113	0.46327	22.3	0.92758743153326395	0.22268	0.87566	0.47147	D	AEFDGBHCI	0.149820	0.27399	N	-0.709866793387474	0.15744	0.796111	-0.470061119821844	0.22982	1.251077	0.999999278440789	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.48	2.48	0.29194	3.401000	0.52348	4.527000	0.43710	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1546:0.4302:0.4152	5.517	0.16203	746	0.52331	Domain of unknown function DUF3528, homeobox protein, eukaryotic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.005435	0.008772	0.000000	0.025862	0.003049	0.018939	0.02632	4001.33	39	chr2	176107440	.	G	T	4001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1021;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.461;SOR=0.739	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	176107582	176107587	GCGGCG	-	exonic	HOXD11	.	nonframeshift deletion	HOXD11:NM_021192:exon1:c.227_232del:p.G81_G82del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs762528392	9.828e-05	0.0002	8.013e-05	0.0001	0.0012	8.413e-05	7.884e-05	0.0010	0.0009	0	0	0	0	0	0	4.765e-05	0.0001	0.0012	6.019e-05	5.921e-05	2.613e-05	9.592e-05	0.0013	3.127e-05	2.246e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.463e-05	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3222.77	39	chr2	176107581	.	CGCGGCG	C	3222.77	.	AC=2;AF=0.053;AN=38;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.95;SOR=3.383	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chr2	176117357	176117357	C	T	exonic	HOXD10	.	nonsynonymous SNV	HOXD10:NM_002148:exon1:c.C524T:p.T175I	Charcot-Marie-Tooth disease, foot deformity of, Autosomal dominant;Vertical talus, congenital, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0289503775012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.426	0.13872	T	0.001	0.07471	B	0.006	0.12133	B	0.000029	0.55875	D	0.161366	0.999973	0.53665	D	1.36	0.34107	L	-3.27	0.93640	D	-1.58	0.38151	N	0.714	0.71676	0.153	0.85105	D	0.720	0.90393	D	10	0.63892794	0.68943	D	0.02895	0.51542	D	0.415	0.72555	0.375	0.38830	0.936525638422	0.93587	0.34754309459326327	0.34668	0.101051018076	0.11422	0.719819486141	0.70020	T	0.226528	0.59157	T	0.264769	0.79969	D	0.142546	0.79711	D	0.72340589761734	0.41871	D	0.89801	0.64352	D	0.1601951	0.35944	0.23321559	0.48504	0.1601951	0.35944	0.23321559	0.48503	-5.76	0.44224	T	.	.	0.185	0.39982	B	.	.	4.986033	0.82625	27.8	0.98829335663409479	0.46919	0.95047	0.63245	D	AEFDBIJ	0.711029	0.66460	D	0.0418103546293579	0.43765	2.663194	0.254056935505751	0.52881	3.459975	0.999999999999962	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.99	5.99	0.97299	4.466000	0.59882	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.476	0.99179	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2336.33	38	chr2	176117357	.	C	T	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.033;DP=837;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.639;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1221	18	0	1	0
chr2	176123231	176123231	G	T	exonic	HOXD9	.	nonsynonymous SNV	HOXD9:NM_014213:exon1:c.G463T:p.G155W	.	403	1108	7	0	4	11	0.0031489	.	.	.	3198994	HOXD9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.476	0.955930260268	.	0.000798722	0.0043	0.0039	0	0	0	0.0070	0	0.0028	0.0007503	116	154602	rs191379716	0.0023	0.0021	0.0023	0.0022	0.0029	0.0022	0.0022	0.0024	0.0024	0.0002	0.0029	0.0007	0	0.0016	0.0006	0.0025	0.0019	0.0014	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0023	0.0022	0.0002	0.0022	0.0010	0.0009	0	0.0009	0	0.0027	0	0.0011	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.97	0.72226	D	0.000000	0.00162	N	7739.210000	0.986206	0.24639	N	2.235	0.63160	M	-3.35	0.94022	D	-4.44	0.77637	D	0.613	0.62950	0.027	0.82797	D	0.809	0.93568	D	10	0.017174155	0.00365	T	0.95593	0.99704	D	0.476	0.76816	.	.	0.972141704607	0.97183	0.6372730592047343	0.63661	1.55718316775	0.87994	0.928060889244	0.98874	D	0.514646	0.82909	D	-0.153589	0.27752	T	0.00449808	0.70627	D	0.0609635424345177	0.07319	T	0.80282	0.44919	T	0.6591159	0.75852	0.7983209	0.88164	0.6591159	0.75853	0.7983209	0.88165	-6.283	0.48587	T	.	.	0.452	0.62316	A	.	.	4.055630	0.60153	24.2	0.99439367229066966	0.64670	0.87399	0.46927	D	AEFDBCI	0.535938	0.55436	D	0.346017366362378	0.58530	4.025736	0.272653709162637	0.53947	3.561496	0.998210038955848	0.36589	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.52	2.6	0.30173	3.484000	0.52965	8.929000	0.78407	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8277:0.1723	12.187	0.53554	717	0.55835	Hox9, N-terminal activation domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1682.85	87	chr2	176123231	.	G	T	1682.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=864;ExcessHet=0.119;FS=5.438;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.89;SOR=0.737	GT:AD:DP:GQ:PL	0/0:37,0:37:82:0,82,1067	18	0	1	0
chr2	176123231	176123231	G	C	exonic	HOXD9	.	nonsynonymous SNV	HOXD9:NM_014213:exon1:c.G463C:p.G155R	.	403	1108	7	0	4	11	0.0031489	.	.	.	3211036	HOXD9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.463	0.947574720286	.	.	0.0025	0	0	0	0	0.0006	0	0.0050	0.0001811	28	154602	rs191379716	0.0009	0.0008	0.0008	0.0010	0.0018	0.0008	0.0008	0.0015	0.0014	8.123e-05	4.265e-05	5.479e-05	0	0.0013	0.0012	0.0009	0.0006	0.0018	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	7.286e-05	0	0.0002	0	0	0.0007	0	0.0010	0.0014	0.0009	0.005	0.63226	D	0.006	0.70582	D	0.961	0.55431	D	0.674	0.53247	P	0.000000	0.00162	N	7739.210000	0.991515	0.24023	N	1.885	0.50048	L	-3.28	0.93691	D	-3.75	0.71157	D	0.369	0.41063	-0.0003	0.82251	T	0.799	0.93198	D	10	0.029539794	0.01080	T	0.947575	0.99637	D	0.463	0.75956	0.552	0.66856	0.974294610393	0.97402	0.6359551298934923	0.63529	1.23621605308	0.81471	0.930284500122	0.99003	D	0.396303	0.75496	T	-0.165452	0.25925	T	-0.0172215	0.69212	D	0.327405780553818	0.26121	T	0.751225	0.37284	T	0.5188764	0.68195	0.6973059	0.82174	0.5188764	0.68196	0.6973059	0.82175	-5.965	0.45986	T	.	.	0.497	0.64435	A	.	.	3.239769	0.44223	21.9	0.99636359301433719	0.76387	0.89043	0.49277	D	AEFDBCI	0.427387	0.49135	N	0.207477110945599	0.51560	3.336341	0.169007824090087	0.48157	3.035556	0.998210038955848	0.36589	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.52	2.6	0.30173	3.484000	0.52965	8.929000	0.78407	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8277:0.1723	12.187	0.53554	717	0.55835	Hox9, N-terminal activation domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1682.85	87	chr2	176123231	.	G	C	1682.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=864;ExcessHet=0.119;FS=5.438;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.89;SOR=0.737	GT:AD:DP:GQ:PL	0/0:37,0:37:82:0,82,1067	18	0	1	0
chr2	176130417	176130417	-	GCGGCG	exonic	HOXD8	.	nonframeshift insertion	HOXD8:NM_001199746:exon1:c.51_52insGCGGCG:p.A23_G24insAA,HOXD8:NM_019558:exon1:c.51_52insGCGGCG:p.A23_G24insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0016	0.0057	0	0	.	0.0004	0	0.0021	0.00011	17	154602	rs560225489	0.0005	0.0005	0.0004	0.0005	0.0096	0.0004	0.0004	0.0086	0.0083	0.0096	0.0015	0.0018	9.975e-05	0	0.0006	0.0001	0.0014	0.0008	0.0032	0.0032	0.0035	0.0029	0.0100	0.0030	0.0029	0.0092	0.0089	0.0100	0	0.0025	0.0026	0	0	0	0.0002	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	890.29	38	chr2	176130417	.	T	TGCGGCG	890.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.636;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=0.6;SOR=0.754	GT:AD:DP:GQ:PL	0/0:42,0:42:91:0,91,1188	18	0	1	0
chr2	176130551	176130568	CGCACGCGCCCCCGCAGG	-	exonic	HOXD8	.	nonframeshift deletion	HOXD8:NM_001199746:exon1:c.185_202del:p.P65_A70del,HOXD8:NM_019558:exon1:c.185_202del:p.P65_A70del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00758786	0.0022	0.0882	0	0	0	0	0	0.0002	0.0001537	4	26028	rs564911040	0.0006	0.0007	0.0007	0.0005	0.0232	0.0006	0.0006	0.0217	0.0211	0.0232	0.0015	0	0	0	0.0006	3.994e-05	0.0020	9.759e-05	0.0075	0.0076	0.0080	0.0070	0.0261	0.0072	0.0070	0.0248	0.0243	0.0261	0	0.0029	0	0.0002	0	0	8.839e-05	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1638.29	43	chr2	176130550	.	CCGCACGCGCCCCCGCAGG	C	1638.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.853;DP=783;ExcessHet=0;FS=4.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=0.111;SOR=0.477	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr2	177875884	177875884	T	C	exonic	PDE11A	.	nonsynonymous SNV	PDE11A:NM_001077196:exon2:c.A10G:p.K4E,PDE11A:NM_001077358:exon4:c.A268G:p.K90E,PDE11A:NM_016953:exon5:c.A1342G:p.K448E,PDE11A:NM_001077197:exon6:c.A592G:p.K198E	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0118044190984	.	.	6.601e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs770808795	6.849e-05	6.977e-05	6.407e-05	7.295e-05	0.0004	5.72e-05	5.332e-05	0.0003	0.0003	0	0	0	2.52e-05	0	0.0003	4.863e-05	0.0001	0.0004	1.972e-05	1.97e-05	0	4.038e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.456	0.47320	T	0.89	0.52389	T	0.737	0.42882	P	0.324	0.41853	B	0.000001	0.84330	D	0.126561	0.999767	0.48888	D	0.185	0.09099	N	-0.1	0.73205	T	-0.28	0.11547	N	0.764	0.76203	-0.7738	0.56648	T	0.182	0.52980	T	10	0.2970218	0.47264	T	0.011804	0.29782	T	0.218	0.51265	0.437	0.48993	0.742639354551	0.74032	0.4595286924047484	0.45870	0.310549246955	0.33367	0.635275483131	0.57893	T	0.051731	0.28960	T	-0.0849637	0.38906	T	-0.0493024	0.67070	D	0.103408467619412	0.12728	T	0.921408	0.71494	D	0.23033963	0.45787	0.24440838	0.49906	0.25506657	0.48539	0.2661547	0.52456	-4.892	0.61959	T	.	.	0.115	0.29283	B	.;.;.;.	.;.;.;.	3.132672	0.42339	21.5	0.98064508654884897	0.37975	0.97497	0.75132	D	AEFI	0.827342	0.74664	D	0.0214739809848609	0.42832	2.588244	0.239707977795276	0.52066	3.384053	0.53638706055811	0.21217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.162000	0.64785	7.854000	0.71106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.345	0.66218	725	0.54935	GAF domain|GAF domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2635.81	33	chr2	177875884	.	T	C	2635.81	.	AC=2;AF=0.053;AN=38;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.29;SOR=0.738	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	18	1	0	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	0	1435	82	5	0	92	0.0310601	.	.	.	205134	not_specified|not_provided|Pigmented_nodular_adrenocortical_disease,_primary,_2|PDE11A-related_disorder|Bardet-Biedl_syndrome_16	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013105	0.000000	0.006793	0.020468	0.000000	0.008621	0.015244	0.026515	0.02632	1500.29	51	chr2	178072266	.	TA	T	1500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=856;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.794;SOR=0.612	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.02632	842.33	33	chr2	178324247	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=706;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.353;SOR=0.548	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1230	18	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5404.79	227	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	5404.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.32;DP=1612;ExcessHet=0.119;FS=0.605;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-4.573;SOR=0.589	GT:AD:DP:GQ:PL	0/1:145,97:242:99:3611,0,5748	17	0	2	0
chr2	178503801	178503801	G	A	exonic	PLEKHA3	.	nonsynonymous SNV	PLEKHA3:NM_019091:exon8:c.G817A:p.A273T	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0008	0.00399361	0.0033	0.0002	0.0009	0.0001	0	0.0011	0.0011	0.0192	0.0027878	431	154602	rs145044786	0.0016	0.0016	0.0011	0.0022	0.0181	0.0016	0.0015	0.0173	0.0170	0.0002	0.0006	0.0015	0.0001	0	0.0033	0.0005	0.0025	0.0181	0.0015	0.0015	0.0013	0.0016	0.0222	0.0013	0.0012	0.0188	0.0175	0.0002	0	0.0016	0.0012	0	0	0	0.0011	0.0014	0.0222	0.26	0.16574	T	0.707	0.05582	T	0.0	0.02946	B	0.001	0.04355	B	0.042380	0.23849	N	0.464010	0.90154	0.27690	N	0.55	0.14455	N	2.63	0.12884	T	-0.24	0.10833	N	0.024	0.00445	-0.9654	0.38132	T	0.011	0.04321	T	10	0.0019107759	0.00026	T	.	.	.	0.115	0.32236	.	.	0.248417906384	0.24464	0.13601584638444106	0.13525	0.387255995529	0.40007	0.339420676231	0.16351	T	0.022339	0.17240	T	-0.678852	0.00049	T	-0.733621	0.04166	T	0.0108611034300655	0.00155	T	0.751525	0.37371	T	0.03181383	0.03091	0.047337435	0.06798	0.03181383	0.03090	0.047337435	0.06797	-3.032	0.10530	T	.	.	0.071	0.03773	B	.	.	1.641845	0.20951	14.98	0.7718937070749986	0.11773	0.85205	0.44317	D	AEFGBI	0.105423	0.21064	N	-0.612414703231113	0.18570	0.9651844	-0.408913275132726	0.24735	1.356198	0.892687780450018	0.25889	0.706548	0.73137	0	0.653731	0.59785	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.85	0.758	0.17579	1.173000	0.31529	.	.	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.999000	0.91618	0.2912:0.0:0.4495:0.2593	3.869	0.08533	322	0.86904	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004878	0.000000	0.002747	0.000000	0.000000	0.000000	0.007874	0.025424	0.02632	2289.33	35	chr2	178503801	.	G	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.4;DP=889;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.728;SOR=0.81	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	178528662	178528662	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon188:c.G79894C:p.E26632Q,TTN:NM_133432:exon189:c.G80269C:p.E26757Q,TTN:NM_133437:exon189:c.G80470C:p.E26824Q,TTN:NM_133378:exon309:c.G99385C:p.E33129Q,TTN:NM_001256850:exon310:c.G102166C:p.E34056Q,TTN:NM_001267550:exon360:c.G107089C:p.E35697Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	189407	Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_provided|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.098293764584	0.0002	0.000199681	0.0005	0	9.379e-05	0	0	0.0002	0.0011	0.0027	0.0004075	63	154602	rs199531140	0.0002	0.0002	9.806e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	8.97e-05	3.83e-05	0	0	0.0014	4.409e-05	0.0002	0.0019	0.0001	0.0001	8.997e-05	0.0002	0.0015	9.144e-05	7.7e-05	0.0007	0.0005	2.407e-05	0	6.533e-05	0.0003	0	0	0.0068	0.0001	0.0005	0.0015	0.186	0.23007	T	.	.	.	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	0.992469	0.24505	N	2.175	0.60977	M	-0.06	0.63568	T	-1.73	0.41046	N	0.329	0.54234	-0.7236	0.59284	T	0.253	0.62337	T	9	0.011174649	0.00245	T	0.098294	0.76918	D	0.070	0.20419	.	.	0.202086224978	0.19791	.	.	0.0905715805652	0.10218	0.328484535217	0.14705	T	.	.	.	-0.440145	0.01291	T	-0.411181	0.32088	T	0.0264453348872487	0.01466	T	0.90091	0.68959	D	.	.	.	.	.	.	.	.	-4.0	0.23804	T	.	.	0.173	0.37988	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.202176	0.28086	17.68	0.8347100170993379	0.14744	0.92320	0.55440	D	AEFGBI	0.675111	0.64060	D	0.0492952514518216	0.44110	2.691078	0.157815701923684	0.47559	2.984203	0.999998093390914	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.56	4.68	0.58319	2.667000	0.46473	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9285:0.0:0.0715	14.319	0.66027	350	0.85473	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2566.33	34	chr2	178528662	.	C	G	2566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.27;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	18	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1496	25	0	0	25	0.00828638	.	.	.	56816	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0017	0.0011	0.0233	0.0036481	564	154602	rs56347248	0.0022	0.0022	0.0016	0.0028	0.0211	0.0021	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.038e-05	7.493e-05	0.0043	0.0010	0.0027	0.0211	0.0017	0.0018	0.0015	0.0020	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0016	0.0009	0	0	0	0.0016	0.0014	0.0238	0.52	0.07259	T	.	.	.	0.437	0.35811	B	0.235	0.38432	B	.	.	.	.	0.976515	0.39283	D	-0.115	0.04602	N	-0.06	0.63568	T	-0.59	0.17834	N	0.044	0.20793	-0.7920	0.55612	T	0.135	0.44933	T	9	0.003139168	0.00052	T	.	.	.	0.126	0.34673	.	.	0.494906320408	0.49125	.	.	0.126400502665	0.14248	0.424147129059	0.28407	T	.	.	.	-0.430651	0.01469	T	-0.374457	0.36368	T	0.0279211896563883	0.01677	T	0.818018	0.47860	T	.	.	.	.	.	.	.	.	-3.49	0.16292	T	.	.	0.131	0.28174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.161078	0.27534	17.49	0.8587454016514926	0.16167	0.93700	0.58941	D	AEFBI	.	.	.	0.0801936018471561	0.45539	2.808774	0.257360012518291	0.53068	3.477797	0.999984022272872	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.59	5.59	0.84677	5.019000	0.63828	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1352:0.0:0.0:0.8648	11.421	0.49223	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2751.33	33	chr2	178534020	.	T	C	2751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.903;DP=1975;ExcessHet=0;FS=2.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.068;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1195	18	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	56807	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.05263	4110.83	33	chr2	178534724	.	C	T	4110.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.67;DP=1847;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.53;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1195	17	0	2	0
chr2	178537377	178537377	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72635A:p.G24212E,TTN:NM_133432:exon184:c.G73010A:p.G24337E,TTN:NM_133437:exon184:c.G73211A:p.G24404E,TTN:NM_133378:exon304:c.G92126A:p.G30709E,TTN:NM_001256850:exon305:c.G94907A:p.G31636E,TTN:NM_001267550:exon355:c.G99830A:p.G33277E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	56784	Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_specified	MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MedGen:CN239352|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	.	0.00179712	0.0012	0	0.0002	0	0	1.778e-05	0	0.0107	0.0009314	144	154602	rs397517781	0.0005	0.0005	0.0003	0.0007	0.0079	0.0004	0.0004	0.0074	0.0072	0	2.317e-05	0	0	0	0.0002	2.726e-06	0.0003	0.0079	0.0002	0.0002	9.001e-05	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	0	0.0005	0.0077	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.905	0.84014	M	-0.72	0.72994	T	-6.07	0.93404	D	0.639	0.91505	0.340	0.88184	D	0.622	0.86680	D	9	0.013269186	0.00282	T	.	.	.	0.797	0.93346	0.877	0.96683	0.787362342877	0.78539	.	.	0.526218639335	0.50253	0.689847886562	0.65685	T	.	.	.	-0.120418	0.33056	T	0.058537	0.74148	D	0.217123034449683	0.21319	T	0.90231	0.66926	D	.	.	.	.	.	.	.	.	-9.473	0.70691	D	.	.	0.976	0.90447	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777519	0.36477	20.3	0.92758354521796416	0.22267	0.98614	0.84715	D	AEFBI	0.911992	0.87201	D	0.949152951046742	0.93950	12.39341	0.903860341396854	0.95739	13.91775	1.0	0.98316	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	20.036	0.97557	383	0.83590	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1655.33	37	chr2	178537377	.	C	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=752;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.63;SOR=0.615	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1401	18	0	1	0
chr2	178539675	178539675	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1498	22	2	0	26	0.00860357	.	.	.	56764	Long_QT_syndrome|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0058	0.00399361	0.0044	0.0006	0.0042	0	0.0009	0.0067	0.0033	0.0009	0.0047412	733	154602	rs149001703	0.0061	0.0061	0.0062	0.0059	0.0108	0.0059	0.0059	0.0086	0.0078	0.0012	0.0063	0.0011	7.558e-05	0.0009	0.0108	0.0072	0.0055	0.0011	0.0050	0.0050	0.0049	0.0050	0.0141	0.0047	0.0046	0.0125	0.0119	0.0012	0.0033	0.0141	0.0006	0	0.0003	0.0034	0.0068	0.0099	0.0004	0.272	0.15930	T	.	.	.	0.044	0.21686	B	0.036	0.22909	B	.	.	.	.	0.925767	0.36814	D	-1.165	0.00881	N	1.31	0.35405	T	-2.26	0.50502	N	0.372	0.53620	-0.9416	0.42362	T	0.024	0.10239	T	9	0.004747838	0.00100	T	.	.	.	0.176	0.44373	.	.	0.144782658237	0.14088	.	.	0.0737544068941	0.08270	0.333610296249	0.15479	T	.	.	.	-0.565098	0.00237	T	-0.575105	0.14984	T	0.0358890173563926	0.02962	T	0.910809	0.68393	D	.	.	.	.	.	.	.	.	0.177	0.00292	T	.	.	0.064	0.01762	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.951309	0.24787	16.52	0.94437002722538843	0.24857	0.97441	0.74770	D	AEFBCI	0.707181	0.66200	D	-0.232602821107118	0.31803	1.786997	0.0708973245925936	0.43093	2.618261	0.99999999989433	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.865000	0.62695	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	16.822	0.85699	423	0.81269	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008056	0.015152	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6389.83	35	chr2	178539675	.	T	C	6389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=1878;ExcessHet=0.119;FS=1.732;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.53;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1496	26	0	0	26	0.00861498	.	.	YES	56719	Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2302.33	44	chr2	178545939	.	G	A	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=811;ExcessHet=0;FS=5.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.392;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr2	178546480	178546480	A	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1486	32	2	0	36	0.0119681	.	.	.	56709	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0386268382034	0.0026	0.00179712	0.0029	0.0007	0.0056	0	0	0.0038	0.0023	0.0014	0.0029236	452	154602	rs72648256	0.0029	0.0029	0.0029	0.0029	0.0217	0.0028	0.0028	0.0186	0.0175	0.0006	0.0058	0.0096	0	0.0003	0.0217	0.0028	0.0054	0.0010	0.0030	0.0030	0.0032	0.0028	0.0058	0.0027	0.0027	0.0048	0.0045	0.0007	0.0724	0.0058	0.0089	0	0.0005	0.0204	0.0030	0.0066	0.0019	0.077	0.53172	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	0.999917	0.52396	D	2.37	0.68279	M	-0.6	0.72889	T	-2.75	0.65397	D	0.344	0.63544	-0.0816	0.80518	T	0.475	0.79862	T	9	0.0069538355	0.00158	T	0.038627	0.58335	D	0.362	0.68230	0.414	0.45216	0.456738291233	0.45297	.	.	0.446550992324	0.44524	0.683138608932	0.64719	T	.	.	.	-0.355689	0.04380	T	-0.281365	0.46664	T	0.0569647524834986	0.06682	T	0.846715	0.53348	T	.	.	.	.	.	.	.	.	-5.637	0.43129	T	.	.	0.549	0.66730	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.244476	0.16405	12.52	0.9353988724361828	0.23366	0.94583	0.61639	D	AEFBI	0.621735	0.60632	D	0.621269056086818	0.74523	6.146958	0.589645623696016	0.74194	6.096106	0.999789397888448	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	4.88	0.63131	4.287000	0.58794	.	.	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.993000	0.69303	0.8609:0.0:0.1391:0.0	9.145	0.36089	484	0.77165	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020141	0.030303	0.031250	0.026316	0.000000	0.017241	0.006098	0.000000	0.02632	3076.33	44	chr2	178546480	.	A	T	3076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=938;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.683;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr2	178548270	178548270	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon167:c.G66161A:p.R22054K,TTN:NM_133432:exon168:c.G66536A:p.R22179K,TTN:NM_133437:exon168:c.G66737A:p.R22246K,TTN:NM_133378:exon288:c.G85652A:p.R28551K,TTN:NM_001256850:exon289:c.G88433A:p.R29478K,TTN:NM_001267550:exon339:c.G93356A:p.R31119K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0695507415634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	.	.	.	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.999999	0.58761	D	0.255	0.09829	N	0.44	0.56609	T	-2.19	0.49352	N	0.336	0.62526	-0.4926	0.68916	T	0.164	0.50111	T	9	0.2601843	0.43465	T	0.069551	0.70760	D	0.329	0.65126	0.502	0.59460	0.295623431141	0.29171	.	.	0.462811898634	0.45803	0.571834206581	0.48937	T	.	.	.	-0.0691412	0.41466	T	-0.337093	0.40673	T	0.404055238150109	0.29095	T	0.824917	0.49142	T	.	.	.	.	.	.	.	.	-3.364	0.14576	T	.	.	0.166	0.36614	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.462565	0.31724	18.83	0.76952904098544417	0.11676	0.98672	0.85404	D	AEFBI	0.924082	0.90157	D	0.47378421032623	0.65565	4.838423	0.539236400038287	0.70653	5.536792	0.999999999999947	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.65	5.65	0.86881	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:1.0:0.0:0.0	19.727	0.96163	498	0.76166	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2542.33	44	chr2	178548270	.	C	T	2542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=1716;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.015;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1495	26	0	0	26	0.00862069	.	.	.	56678	Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.0036675	567	154602	rs148617456	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0241	0.0016	0.0015	0.0205	0.0192	0.0002	0	0.0018	0.0009	0	0	0	0.0016	0.0019	0.0241	0.041	0.41915	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.15	0.29295	L	-0.5	0.70480	T	-2.78	0.66085	D	0.487	0.67650	-0.0690	0.80802	T	0.488	0.80515	T	9	0.0062122345	0.00140	T	.	.	.	0.416	0.72631	.	.	0.52628473709	0.52276	.	.	0.457598942377	0.45392	0.550748407841	0.45962	T	.	.	.	-0.333518	0.05850	T	-0.234932	0.51292	T	0.046113912415414	0.04804	T	0.887511	0.61533	D	.	.	.	.	.	.	.	.	-5.9	0.45435	T	.	.	0.140	0.30713	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063934	0.41155	21.3	0.98470008578502022	0.41849	0.97160	0.73043	D	AEFBI	0.707248	0.66204	D	0.716954307711086	0.80744	7.362555	0.730721168650621	0.84709	8.368916	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	4.921000	0.63096	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.026515	0.02632	1972.33	44	chr2	178550073	.	C	T	1972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.506;DP=901;ExcessHet=0;FS=3.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.143;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1495	24	2	0	28	0.00927767	.	.	YES	56665	Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy|not_provided|TTN-related_myopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.018939	0.02632	2752.33	33	chr2	178552074	.	A	C	2752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=902;ExcessHet=0;FS=0.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.515;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1314	18	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1496	26	0	0	26	0.00861498	.	.	.	56661	Cardiomyopathy|Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.403	.	0.0015	0.0061901	0.0041	0.0002	0.0011	0.0004	0	0.0018	0.0012	0.0265	0.0036481	564	154602	rs149567378	0.0022	0.0023	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0008	0.0008	0.0002	5.702e-05	0.0044	0.0011	0.0030	0.0210	0.0019	0.0019	0.0016	0.0021	0.0243	0.0017	0.0016	0.0207	0.0194	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0017	0.0019	0.0243	0.011	0.55530	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.565	0.39561	L	-0.33	0.68329	T	-3.4	0.71397	D	0.405	0.67995	-0.2039	0.77569	T	0.431	0.77284	T	9	0.006216377	0.00140	T	.	.	.	0.403	0.71636	.	.	0.366277470483	0.36239	.	.	0.515550123524	0.49465	0.626902043819	0.56706	T	.	.	.	-0.330574	0.06068	T	-0.230704	0.51704	T	0.0440367366895231	0.04426	T	0.949405	0.82942	D	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	0.107	0.20038	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.866965	0.37901	20.6	0.92786797022447076	0.22304	0.97433	0.74719	D	AEFBI	0.830258	0.74901	D	0.710948418442647	0.80351	7.274923	0.713889188448926	0.83433	8.02034	0.999999999999992	0.74766	0.554377	0.28877	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	6.170000	0.71810	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.324	0.98691	535	0.73288	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.009146	0.022727	0.02632	1802.33	33	chr2	178552364	.	C	T	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=806;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.52;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1314	18	0	1	0
chr2	178557942	178557942	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon156:c.C60217A:p.P20073T,TTN:NM_133432:exon157:c.C60592A:p.P20198T,TTN:NM_133437:exon157:c.C60793A:p.P20265T,TTN:NM_133378:exon277:c.C79708A:p.P26570T,TTN:NM_001256850:exon278:c.C82489A:p.P27497T,TTN:NM_001267550:exon328:c.C87412A:p.P29138T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1511	10	1	0	12	0.00395517	.	.	.	56628	Tip-toe_gait|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.724	0.182721582318	8.3e-05	0.00219649	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0030	0.0010026	155	154602	rs72648227	0.0009	0.0009	0.0007	0.0010	0.0042	0.0008	0.0008	0.0038	0.0037	0.0001	0.0006	0.0070	2.519e-05	0.0017	0.0024	0.0005	0.0011	0.0042	0.0009	0.0009	0.0007	0.0011	0.0048	0.0008	0.0007	0.0033	0.0028	0.0001	0	0.0018	0.0078	0	0.0013	0	0.0005	0.0005	0.0048	0.006	0.91255	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.12	0.86283	D	-5.87	0.94223	D	0.504	0.73285	0.956	0.96482	D	0.872	0.95731	D	9	0.010123581	0.00226	T	0.182722	0.85639	D	0.724	0.90280	.	.	0.729987623446	0.72758	.	.	0.487905608832	0.47607	0.641880512238	0.58832	T	.	.	.	-0.159127	0.26894	T	-0.0031417	0.70132	D	0.0713008449434733	0.08833	T	0.972803	0.94559	D	.	.	.	.	.	.	.	.	-13.793	0.92364	D	.	.	0.988	0.93009	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.908996	0.38583	20.8	0.90053429235007454	0.19339	0.94304	0.60741	D	AEFBHCI	0.924000	0.90134	D	1.06393502832342	0.97406	16.07503	0.982192047283936	0.98253	17.79259	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	5.63	5.63	0.86108	8.133000	0.89497	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	20.040	0.97574	462	0.78611	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2157.33	33	chr2	178557942	.	G	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.156;DP=868;ExcessHet=0;FS=11.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.95;SOR=0.451	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2171,0,2091	18	0	1	0
chr2	178559871	178559871	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T59066G:p.F19689C,TTN:NM_133432:exon155:c.T59441G:p.F19814C,TTN:NM_133437:exon155:c.T59642G:p.F19881C,TTN:NM_133378:exon275:c.T78557G:p.F26186C,TTN:NM_001256850:exon276:c.T81338G:p.F27113C,TTN:NM_001267550:exon326:c.T86261G:p.F28754C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.0566008861111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.994	0.66517	D	0.707	0.54387	P	.	.	.	.	1	0.81001	D	3.375	0.91388	M	-0.09	0.64086	T	-5.51	0.88630	D	0.551	0.84922	-0.0866	0.80404	T	0.435	0.77529	T	9	0.47143626	0.59886	T	0.056601	0.66665	D	0.496	0.78100	0.375	0.38830	0.773553141154	0.77147	.	.	0.429354364312	0.43229	0.655157208443	0.60718	T	.	.	.	0.161915	0.70378	D	-0.005197	0.69998	D	0.584034323692322	0.35774	D	0.933007	0.74900	D	.	.	.	.	.	.	.	.	-8.051	0.61417	D	.	.	0.686	0.72380	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.112481	0.41986	21.5	0.89159858402702086	0.18561	0.99258	0.93561	D	AEFDBI	0.950219	0.96363	D	0.84702394240749	0.88939	9.770615	0.846291154186519	0.92798	11.63787	0.99999995780585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.576	0.84532	460	0.78750	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1885.33	36	chr2	178559871	.	A	C	1885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.728;DP=917;ExcessHet=0;FS=5.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.461;SOR=0.478	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,112,1368	18	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1497	25	0	0	25	0.00828089	.	.	.	56579	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0014	0.00579073	0.0042	0.0002	0.0011	0	0	0.0017	0.0011	0.0225	0.003564	551	154602	rs56264840	0.0022	0.0022	0.0016	0.0027	0.0202	0.0021	0.0021	0.0194	0.0191	0.0003	0.0007	0.0008	5.04e-05	7.49e-05	0.0043	0.0010	0.0027	0.0202	0.0017	0.0017	0.0015	0.0020	0.0232	0.0016	0.0015	0.0197	0.0184	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0232	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999825	0.50225	D	2.485	0.72352	M	0.35	0.58029	T	-4.57	0.79659	D	0.379	0.60495	-0.4672	0.69823	T	0.323	0.69212	T	9	0.0070592165	0.00160	T	.	.	.	0.417	0.72705	0.578	0.70347	0.250039746154	0.24611	.	.	0.496214373149	0.48140	0.663874268532	0.61963	T	.	.	.	-0.435452	0.01376	T	-0.382017	0.35485	T	0.133976625754777	0.15744	T	0.934307	0.75413	D	.	.	.	.	.	.	.	.	-10.339	0.75916	D	.	.	0.865	0.80585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.816132	0.23080	15.88	0.9232112540969486	0.21715	0.94092	0.60088	D	AEFBI	0.724372	0.67370	D	0.448065803602407	0.64093	4.656293	0.379467926255422	0.60300	4.216094	0.00891551601152706	0.11764	0.553676	0.25195	0	0.546412	0.12157	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	2.79	0.31792	3.299000	0.51533	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.4327:0.0:0.5673:0.0	7.167	0.24872	443	0.79878	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.026515	0.02632	2833.33	36	chr2	178563572	.	G	T	2833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=1942;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.665;SOR=0.715	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr2	178563646	178563646	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G55291A:p.D18431N,TTN:NM_133432:exon155:c.G55666A:p.D18556N,TTN:NM_133437:exon155:c.G55867A:p.D18623N,TTN:NM_133378:exon275:c.G74782A:p.D24928N,TTN:NM_001256850:exon276:c.G77563A:p.D25855N,TTN:NM_001267550:exon326:c.G82486A:p.D27496N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	499299	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.0120698359093	.	0.000998403	0.0006	0	8.652e-05	0.0007	0	1.499e-05	0.0011	0.0038	0.0005045	78	154602	rs554231442	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0036	0.0035	0	0	0	5.04e-05	0	0.0009	5.847e-05	0.0002	0.0039	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.407e-05	0	6.55e-05	0	0.0008	0	0	5.881e-05	0	0.0058	0.068	0.43393	T	.	.	.	0.06	0.23119	B	0.013	0.16460	B	.	.	.	.	0.99943	0.47641	D	1.415	0.35607	L	0.32	0.58468	T	-3.11	0.64246	D	0.173	0.35088	-0.8720	0.50379	T	0.164	0.50061	T	9	0.008889884	0.00201	T	0.01207	0.30309	T	0.143	0.38195	0.685	0.82271	0.238705975628	0.23479	.	.	0.0908490664805	0.10259	0.395129799843	0.24390	T	.	.	.	-0.546585	0.00306	T	-0.558746	0.16495	T	0.0374089329057595	0.03229	T	0.912309	0.68816	D	.	.	.	.	.	.	.	.	-4.742	0.33908	T	.	.	0.116	0.23219	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.601500	0.33767	19.44	0.89688073390152212	0.19013	0.79844	0.39646	D	AEFBI	0.348611	0.44268	N	0.107105667915525	0.46795	2.914369	0.277928060398702	0.54252	3.590865	0.969714564207953	0.29150	0.487112	0.14033	0	0.546412	0.12157	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	2.551000	0.45481	.	.	0.599000	0.40250	1.000000	0.71638	0.923000	0.28366	0.976000	0.56436	0.0:0.8895:0.0:0.1105	11.143	0.47635	440	0.80101	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2661.33	36	chr2	178563646	.	C	T	2661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=1884;ExcessHet=0;FS=1.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.745;SOR=0.785	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr2	178568643	178568643	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C50294A:p.T16765N,TTN:NM_133432:exon155:c.C50669A:p.T16890N,TTN:NM_133437:exon155:c.C50870A:p.T16957N,TTN:NM_133378:exon275:c.C69785A:p.T23262N,TTN:NM_001256850:exon276:c.C72566A:p.T24189N,TTN:NM_001267550:exon326:c.C77489A:p.T25830N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0412474079624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475904379	6.844e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.38407	T	.	.	.	0.331	0.33259	B	0.351	0.42849	B	.	.	.	.	0.893777	0.36011	D	2.87	0.83286	M	-0.32	0.68181	T	-2.39	0.55983	N	0.319	0.53357	-0.0948	0.80218	T	0.358	0.72069	T	9	0.3081959	0.48317	T	0.041247	0.59822	D	0.245	0.55201	0.323	0.30387	0.372446077551	0.36852	.	.	0.201909423797	0.22604	0.391892790794	0.23936	T	.	.	.	-0.135673	0.30581	T	-0.332031	0.41244	T	0.310427351253235	0.25432	T	0.834417	0.50357	T	.	.	.	.	.	.	.	.	-6.712	0.51901	T	.	.	0.101	0.17700	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.229931	0.28468	17.81	0.87583848850786383	0.17333	0.97007	0.72153	D	AEFBI	0.885684	0.81641	D	0.394339844477854	0.61115	4.308363	0.461658015208815	0.65471	4.827757	0.999994336834995	0.74766	0.553676	0.25195	0	0.601575	0.49859	0	0.54472	0.12158	0	0.620846	0.47308	0	.	.	6.03	5.15	0.70287	5.625000	0.67446	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1232:0.8768:0.0	17.576	0.87847	435	0.80441	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2027.33	98	chr2	178568643	.	G	T	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=2278;ExcessHet=0;FS=2.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.75;SOR=0.816	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	18	0	1	0
chr2	178575301	178575301	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G43636A:p.A14546T,TTN:NM_133432:exon155:c.G44011A:p.A14671T,TTN:NM_133437:exon155:c.G44212A:p.A14738T,TTN:NM_133378:exon275:c.G63127A:p.A21043T,TTN:NM_001256850:exon276:c.G65908A:p.A21970T,TTN:NM_001267550:exon326:c.G70831A:p.A23611T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1183042	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.0435901636639	0.0002	.	6.678e-05	0.0001	0	0	0	9.041e-05	0	6.09e-05	7.12e-05	11	154602	rs373765469	4.175e-05	4.173e-05	4.085e-05	4.265e-05	3.958e-05	3.312e-05	3.002e-05	3e-05	2.672e-05	0	2.237e-05	0.0004	0	0	0	3.958e-05	4.971e-05	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.385e-05	7.237e-05	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0.0003	0	0	0	2.942e-05	0	0	0.046	0.48642	D	.	.	.	0.929	0.51690	P	0.355	0.42984	B	.	.	.	.	0.997067	0.43605	D	1.99	0.53851	M	0.34	0.58176	T	-2.21	0.50666	N	0.38	0.58202	-0.6588	0.62329	T	0.194	0.54739	T	9	0.13415396	0.25532	T	0.04359	0.61059	D	0.163	0.42028	.	.	0.245101548738	0.24120	.	.	0.213166303579	0.23823	0.599353432655	0.52813	T	.	.	.	-0.199232	0.20915	T	-0.342432	0.40069	T	0.0584918550811933	0.06929	T	0.955204	0.83632	D	.	.	.	.	.	.	.	.	-5.668	0.43408	T	.	.	0.123	0.25689	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.031313	0.40608	21.2	0.90329016023232689	0.19595	0.93942	0.59640	D	AEFBI	.	.	.	0.413888215430264	0.62185	4.430427	0.422529720771164	0.62970	4.521967	0.861194344415107	0.25229	0.638212	0.43195	0	0.636889	0.57051	0	0.385369	0.06276	2	0.668105	0.65232	0	.	.	5.6	4.71	0.59010	4.873000	0.62751	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.93:0.0:0.07	14.874	0.70118	435	0.80441	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	8209.81	98	chr2	178575301	.	C	T	8209.81	.	AC=2;AF=0.053;AN=38;DP=1923;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.95;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:122:99:.:.:0,120,1800:.	18	1	0	0
chr2	178584459	178584459	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1470	49	2	0	53	0.017708	.	.	.	56381	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0019	0.0129792	0.0088	0.0002	0.0022	0.0192	0.0006	0.0036	0.0089	0.0377	0.0079624	1231	154602	rs72646861	0.0045	0.0045	0.0034	0.0055	0.0352	0.0044	0.0043	0.0342	0.0338	0.0006	0.0017	0.0198	0.0151	0.0002	0.0161	0.0016	0.0064	0.0352	0.0035	0.0035	0.0030	0.0041	0.0342	0.0033	0.0032	0.0299	0.0283	0.0005	0.0044	0.0014	0.0185	0.0199	0.0005	0.0068	0.0020	0.0057	0.0342	0.053	0.78490	T	.	.	.	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.68	0.78455	M	0.52	0.55266	T	-6.03	0.89722	D	0.496	0.81360	-0.4509	0.70370	T	0.239	0.60726	T	9	0.006336957	0.00143	T	.	.	.	0.360	0.68052	.	.	0.612662979051	0.60954	.	.	0.517476731111	0.49612	0.771674871445	0.77675	T	.	.	.	-0.33593	0.05674	T	-0.228856	0.51882	T	0.048045884679476	0.05151	T	0.945105	0.79487	D	.	.	.	.	.	.	.	.	-8.361	0.64785	D	.	.	0.366	0.57597	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.081587	0.60724	24.3	0.89618393577052835	0.18952	0.95943	0.66827	D	AEFDBI	0.897210	0.83913	D	0.849151916285406	0.89058	9.818826	0.840293287160525	0.92435	11.42541	0.999721983117602	0.42220	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.148000	0.64701	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.665	0.99682	416	0.81733	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.005051	0.010870	0.029240	0.050000	0.008621	0.009146	0.022727	0.02632	2330.33	35	chr2	178584459	.	G	A	2330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=867;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.334;SOR=0.62	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1420	18	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1495	26	0	0	26	0.00862069	.	.	.	56378	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.518	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0232	0.003661	566	154602	rs150661999	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.492e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0016	0.0020	0.0240	0.0016	0.0015	0.0205	0.0191	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0016	0.0014	0.0240	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999999	0.81001	D	3.11	0.87757	M	-0.35	0.68616	T	-2.23	0.50666	N	0.456	0.64223	0.409	0.89236	D	0.629	0.86960	D	9	0.008097768	0.00184	T	.	.	.	0.518	0.79461	.	.	0.720176921917	0.71771	.	.	0.455381697114	0.45213	0.577912807465	0.49792	T	.	.	.	-0.32077	0.06834	T	-0.216621	0.53063	T	0.0811897725999269	0.10139	T	0.956104	0.83996	D	.	.	.	.	.	.	.	.	-9.665	0.72712	D	.	.	0.691	0.72593	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.813963	0.37048	20.4	0.97582930358672293	0.34747	0.95696	0.65767	D	AEFGBI	0.645504	0.62137	D	0.926986148134166	0.93019	11.76993	0.866370983973504	0.93936	12.38489	0.999999998610919	0.74766	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.342000	0.51877	.	.	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.557	0.99307	415	0.81806	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.018939	0.02632	2643.33	35	chr2	178584852	.	C	T	2643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=890;ExcessHet=0;FS=4.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.475;SOR=0.565	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1420	18	0	1	0
chr2	178584954	178584954	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.C37492G:p.P12498A,TTN:NM_133432:exon139:c.C37867G:p.P12623A,TTN:NM_133437:exon139:c.C38068G:p.P12690A,TTN:NM_133378:exon259:c.C56983G:p.P18995A,TTN:NM_001256850:exon260:c.C59764G:p.P19922A,TTN:NM_001267550:exon310:c.C64687G:p.P21563A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	283999	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_9|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.593	0.0184940978438	8.4e-05	.	8.396e-06	0	0	0	0	1.522e-05	0	0	2.59e-05	4	154602	rs72646860	1.164e-05	1.163e-05	1.362e-05	9.632e-06	0.0003	7.09e-06	5.8e-06	6.103e-05	2.525e-05	0.0001	0	0	0	0	0.0003	8.997e-06	1.657e-05	0	3.287e-05	3.284e-05	1.285e-05	5.384e-05	7.355e-05	1.261e-05	7.98e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.355e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.35	0.91085	M	-1.29	0.79475	T	-6.43	0.91311	D	0.378	0.60918	0.770	0.94044	D	0.800	0.93241	D	9	0.43722188	0.57871	T	0.018494	0.40571	T	0.593	0.83802	.	.	0.765553852641	0.76341	.	.	0.457628982806	0.45392	0.596329450607	0.52386	T	.	.	.	-0.12236	0.32741	T	-0.107562	0.62806	T	0.533681947976307	0.33870	D	0.916508	0.70155	D	.	.	.	.	.	.	.	.	-7.829	0.60934	D	.	.	0.773	0.76067	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.956253	0.39350	20.9	0.97083790743693466	0.32294	0.99733	0.99053	D	AEFBI	0.956872	0.97569	D	1.13831387496832	0.98783	19.36578	1.07409117223649	0.99617	24.38465	0.99999999999994	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	20.879	0.99870	414	0.81871	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2199.33	35	chr2	178584954	.	G	C	2199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.995;DP=852;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.68;SOR=0.886	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1420	18	0	1	0
chr2	178595558	178595558	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon123:c.A30601G:p.M10201V,TTN:NM_133432:exon124:c.A30976G:p.M10326V,TTN:NM_133437:exon124:c.A31177G:p.M10393V,TTN:NM_133378:exon244:c.A50092G:p.M16698V,TTN:NM_001256850:exon245:c.A52873G:p.M17625V,TTN:NM_001267550:exon295:c.A57796G:p.M19266V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2411496	Cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.0431530124307	8.4e-05	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs372963343	2.113e-05	2.121e-05	1.672e-05	2.564e-05	0.0004	1.499e-05	1.301e-05	0.0002	0.0002	0	0	0	0	0	0.0004	3.674e-06	1.699e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.554	0.06502	T	.	.	.	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	0.890397	0.35940	D	-0.695	0.01866	N	0.7	0.51474	T	-2.19	0.49352	N	0.359	0.45803	-1.0212	0.23324	T	0.057	0.24018	T	9	0.111819774	0.20953	T	0.043153	0.60838	D	0.206	0.49396	.	.	0.19670166235	0.19296	.	.	0.0859450684059	0.09713	0.458904266357	0.33159	T	.	.	.	-0.320359	0.06868	T	-0.393403	0.34152	T	0.102887866230179	0.12672	T	0.862114	0.57764	D	.	.	.	.	.	.	.	.	-1.617	0.03482	T	.	.	0.097	0.16010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.608412	0.33872	19.47	0.88658093706104735	0.18151	0.98031	0.79020	D	AEFBI	0.960583	0.98147	D	-0.196164463204247	0.33293	1.887234	0.0710597949212003	0.43101	2.618892	0.997314306916037	0.35488	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	6.07	4.9	0.63643	6.177000	0.71893	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1296:0.8704	13.589	0.61412	418	0.81602	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	37	chr2	178595558	.	T	C	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.153;DP=778;ExcessHet=0;FS=0.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.59;SOR=0.573	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	178595768	178595768	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon123:c.C30391G:p.L10131V,TTN:NM_133432:exon124:c.C30766G:p.L10256V,TTN:NM_133437:exon124:c.C30967G:p.L10323V,TTN:NM_133378:exon244:c.C49882G:p.L16628V,TTN:NM_001256850:exon245:c.C52663G:p.L17555V,TTN:NM_001267550:exon295:c.C57586G:p.L19196V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	56291	not_provided|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0220979387438	.	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0	0.0001617	25	154602	rs397517630	0.0001	0.0001	0.0001	0.0001	0.0080	0.0001	0.0001	0.0062	0.0055	5.986e-05	0.0004	0	0	0	0.0080	0.0001	0.0002	0.0001	7.89e-05	7.876e-05	9.002e-05	6.726e-05	0.0002	4.499e-05	3.514e-05	5.292e-05	2.837e-05	2.408e-05	0	0.0002	0	0	0	0.0068	7.355e-05	0	0.0002	0.338	0.14743	T	.	.	.	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999986	0.58761	D	-0.465	0.02725	N	0.59	0.53943	T	-1.93	0.47344	N	0.417	0.52029	-0.6851	0.61136	T	0.149	0.47575	T	9	0.118359536	0.22374	T	0.022098	0.44952	T	0.211	0.50185	.	.	0.476445137733	0.47274	.	.	0.465770963553	0.46000	0.688776254654	0.65530	T	.	.	.	-0.336574	0.05629	T	-0.408862	0.32357	T	0.070157282122762	0.08673	T	0.915808	0.69967	D	.	.	.	.	.	.	.	.	-1.917	0.02903	T	.	.	0.116	0.23465	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.184873	0.27852	17.60	0.95183854781613619	0.26357	0.97666	0.76269	D	AEFBI	0.877776	0.80262	D	0.414786343581126	0.62233	4.436127	0.494396100619317	0.67616	5.108191	0.997406887977956	0.35583	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	6.05	5.16	0.70563	5.016000	0.63806	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1368:0.0:0.8632:0.0	11.656	0.50578	418	0.81602	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	505.33	37	chr2	178595768	.	G	C	505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.716;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.466;SOR=0.774	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	56201	Primary_dilated_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	.	0.0015	0.00599042	0.0045	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0037192	575	154602	rs55663050	0.0022	0.0022	0.0016	0.0029	0.0211	0.0022	0.0021	0.0203	0.0199	0.0004	0.0007	0.0008	0.0002	7.498e-05	0.0043	0.0011	0.0030	0.0211	0.0018	0.0018	0.0016	0.0021	0.0245	0.0016	0.0016	0.0209	0.0196	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0245	0.197	0.20607	T	.	.	.	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.999998	0.58761	D	1.295	0.32453	L	-0.35	0.68892	T	-2.19	0.51157	N	0.32	0.53445	-0.1546	0.78803	T	0.443	0.78033	T	9	0.0046233535	0.00096	T	.	.	.	0.233	0.53499	.	.	0.378498632473	0.37457	.	.	0.43613436949	0.43717	0.786140263081	0.79856	T	.	.	.	-0.372229	0.03483	T	-0.290538	0.45718	T	0.048630500485067	0.05257	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-2.304	0.04577	T	.	.	0.157	0.34819	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.106696	0.41893	21.4	0.91567465207823096	0.20846	0.98825	0.87349	D	AEFBI	0.947774	0.95869	D	0.782204565675657	0.84981	8.44205	0.790845855814436	0.89147	9.85807	0.999999999973674	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.85	0.96733	413	0.81939	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1055.33	34	chr2	178612802	.	C	G	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.55;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1425	18	0	1	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T,TTN:NM_133432:exon82:c.C20725A:p.P6909T,TTN:NM_133437:exon82:c.C20926A:p.P6976T,TTN:NM_133378:exon202:c.C39841A:p.P13281T,TTN:NM_001256850:exon203:c.C42622A:p.P14208T,TTN:NM_001267550:exon253:c.C47545A:p.P15849T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1495	26	0	0	26	0.00862069	.	.	.	56178	Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0233	0.0036804	569	154602	rs146181477	0.0022	0.0022	0.0016	0.0028	0.0211	0.0022	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.056e-05	7.493e-05	0.0043	0.0011	0.0027	0.0211	0.0018	0.0018	0.0015	0.0020	0.0243	0.0016	0.0015	0.0207	0.0193	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0243	0.512	0.07449	T	.	.	.	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	0.814352	0.30443	N	1.735	0.44892	L	0.74	0.50459	T	-3.86	0.75058	D	0.332	0.41162	-0.8910	0.48846	T	0.128	0.43482	T	9	0.004316628	0.00087	T	.	.	.	0.152	0.39956	.	.	0.227934060464	0.22382	.	.	0.106357007443	0.12022	0.341280579567	0.16630	T	.	.	.	-0.478698	0.00753	T	-0.443473	0.28420	T	0.0223469174444407	0.00947	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	-5.205	0.38992	T	.	.	0.097	0.15832	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.764698	0.36273	20.2	0.89396471440767089	0.18761	0.95196	0.63793	D	AEFBI	0.624755	0.60821	D	0.183013412871647	0.50385	3.228884	0.349756529587991	0.58493	4.02008	0.999987839813543	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	3.839000	0.55539	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.841	0.96687	426	0.81110	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1955.33	34	chr2	178617806	.	G	T	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.031;DP=798;ExcessHet=0;FS=2.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.062;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	18	0	1	0
chr2	178621649	178621649	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon73:c.G17980A:p.A5994T,TTN:NM_133432:exon74:c.G18355A:p.A6119T,TTN:NM_133437:exon74:c.G18556A:p.A6186T,TTN:NM_133378:exon194:c.G37471A:p.A12491T,TTN:NM_001256850:exon195:c.G40252A:p.A13418T,TTN:NM_001267550:exon245:c.G45175A:p.A15059T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1497	23	0	0	23	0.00762347	.	.	.	56147	Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.366	.	0.0015	0.00339457	0.0033	0.0003	0.0011	0	0	0.0018	0.0011	0.0159	0.0027943	432	154602	rs144668626	0.0019	0.0019	0.0014	0.0024	0.0155	0.0018	0.0018	0.0148	0.0145	0.0003	0.0007	0.0009	2.529e-05	7.498e-05	0.0035	0.0011	0.0024	0.0155	0.0016	0.0016	0.0014	0.0018	0.0193	0.0014	0.0014	0.0161	0.0149	0.0001	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0193	0.023	0.48186	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.215	0.62545	M	-0.24	0.66834	T	-2.79	0.61722	D	0.361	0.68950	-0.0744	0.80678	T	0.501	0.81134	D	9	0.006442368	0.00146	T	.	.	.	0.366	0.68582	.	.	0.430239905395	0.42638	.	.	0.457598942377	0.45392	0.454853713512	0.32607	T	.	.	.	-0.293428	0.09295	T	-0.181941	0.56343	T	0.0415014445753765	0.03963	T	0.947205	0.79675	D	.	.	.	.	.	.	.	.	-6.072	0.47988	T	.	.	0.109	0.20741	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.702705	0.52822	23.3	0.96553543848679368	0.30233	0.98914	0.88555	D	AEFBI	0.936874	0.93382	D	0.897424415611873	0.91632	10.983	0.902844141597971	0.95695	13.87403	0.999999999999998	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	20.879	0.99870	421	0.81399	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.022727	0.02632	3139.33	35	chr2	178621649	.	C	T	3139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=880;ExcessHet=0;FS=1.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.72;SOR=0.612	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1438	18	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	56094	Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016633	0.005051	0.012228	0.032164	0.050000	0.008772	0.018293	0.022727	0.05263	1173.83	33	chr2	178650756	.	G	C	1173.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.162;DP=692;ExcessHet=0.119;FS=0.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.266;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	17	0	2	0
chr2	178652878	178652878	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38929T:p.P12977S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	5	1460	53	4	0	61	0.0204629	.	.	.	238500	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0049	0.00638978	0.0065	0.0014	0.0013	0.0001	0.0011	0.0055	0.0057	0.0225	0.0058925	911	154602	rs150223722	0.0064	0.0064	0.0059	0.0069	0.0232	0.0063	0.0062	0.0224	0.0220	0.0010	0.0020	0.0002	5.043e-05	0.0013	0.0106	0.0061	0.0056	0.0232	0.0039	0.0040	0.0040	0.0039	0.0207	0.0037	0.0036	0.0175	0.0162	0.0010	0	0.0024	0.0003	0	0.0017	0.0034	0.0058	0.0047	0.0207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.00516212	0.00112	T	.	.	.	.	.	.	.	0.838613394838	0.83707	.	.	.	.	.	.	.	.	.	.	-0.52601	0.00406	T	-0.510768	0.21237	T	.	.	.	0.728227	0.34274	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.772844	0.22541	15.66	0.56665513275893198	0.05601	0.18245	0.20180	N	AEFBI	0.157657	0.28320	N	.	.	.	.	.	.	0.0286487783079109	0.13843	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.83	3.93	0.44666	0.120000	0.15476	.	.	0.654000	0.53741	0.008000	0.17931	0.009000	0.19889	0.150000	0.20306	0.0:0.1335:0.6663:0.2002	9.634	0.38960	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1425.33	33	chr2	178652878	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=751;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=1.04;QD=12.96;ReadPosRankSum=0.556;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	18	0	1	0
chr2	178652905	178652905	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon200:c.C38902T:p.P12968S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1511	8	1	0	10	0.00329815	.	.	.	238501	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00890477763684	0.0002	0.00259585	0.0011	0.0001	0.0006	0	0.0014	0.0010	0.0011	0.0032	0.0010155	157	154602	rs192528655	0.0008	0.0008	0.0007	0.0010	0.0041	0.0008	0.0008	0.0037	0.0036	9.087e-05	0.0006	0.0070	2.529e-05	0.0016	0.0023	0.0005	0.0011	0.0041	0.0009	0.0009	0.0007	0.0011	0.0056	0.0008	0.0007	0.0040	0.0034	0.0001	0	0.0017	0.0081	0	0.0013	0	0.0005	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	0.0061616898	0.00139	T	0.008905	0.23463	T	.	.	.	.	0.647246297556	0.64432	.	.	.	.	.	.	.	.	.	.	-0.473537	0.00808	T	-0.455085	0.27137	T	.	.	.	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725460	0.10947	7.612	0.50825434023128024	0.04453	0.19936	0.20852	N	AEFBI	0.230008	0.35345	N	.	.	.	.	.	.	0.0160283788976358	0.12783	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.66	3.76	0.42368	0.930000	0.28458	.	.	-0.126000	0.13398	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.1797:0.1665:0.6538:0.0	5.413	0.15659	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1480.33	33	chr2	178652905	.	G	A	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=755;ExcessHet=0;FS=6.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=2.34;SOR=0.4	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1494,0,1611	18	0	1	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S,TTN:NM_001256850:exon156:c.C34501T:p.P11501S,TTN:NM_001267550:exon182:c.C37432T:p.P12478S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	233	1271	16	2	0	20	0.0078064	.	.	.	56080	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0164089182367	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200992277	0.0027	0.0022	0.0019	0.0034	0.0214	0.0026	0.0025	0.0204	0.0200	0.0004	0.0009	0.0009	0.0002	6.625e-05	0.0046	0.0014	0.0029	0.0214	0.0022	0.0019	0.0018	0.0026	0.0313	0.0020	0.0019	0.0261	0.0242	0.0002	0	0.0024	0.0011	0	0	0	0.0021	0.0022	0.0313	0.04	0.42199	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999912	0.51042	D	.	.	.	-0.61	0.71779	T	-3.52	0.68412	D	0.182	0.22357	-0.6420	0.63060	T	0.242	0.61012	T	9	0.0039824545	0.00077	T	0.016409	0.37653	T	0.131	0.35738	.	.	0.242244723065	0.23846	.	.	0.10059525999	0.11367	0.374639153481	0.21494	T	.	.	.	-0.104603	0.35662	T	-0.388031	0.34782	T	0.0182385127210197	0.00544	T	0.525248	0.26315	T	.	.	.	.	.	.	.	.	-8.519	0.64555	D	.	.	0.159	0.35098	B	.;.;.	.;.;.	1.398936	0.18129	13.56	0.77473308228391879	0.11891	0.11269	0.16522	N	AEFI	0.073094	0.14609	N	-0.457765735320585	0.23478	1.261062	-0.487687774750454	0.22491	1.221904	0.00265572977610148	0.09608	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.01	0.19044	-0.131000	0.10461	.	.	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.1907:0.1228:0.4717:0.2148	1.972	0.03202	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	326.36	5	chr2	178659026	.	G	A	326.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.026;MQ=26.2;MQRankSum=0.688;QD=15.54;ReadPosRankSum=0;SOR=0.387	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	18	0	1	0
chr2	178659050	178659050	C	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.G31696T:p.V10566L,TTN:NM_001256850:exon156:c.G34477T:p.V11493L,TTN:NM_001267550:exon182:c.G37408T:p.V12470L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	260	1256	5	1	0	7	0.00277888	.	.	.	102176	Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_9|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0109321475301	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs398124448	0.0007	0.0007	0.0005	0.0009	0.0060	0.0006	0.0006	0.0054	0.0052	0.0003	0.0016	0.0001	0.0003	0	0.0007	0.0003	0.0008	0.0060	0.0006	0.0011	0.0006	0.0006	0.0030	0.0005	0.0004	0.0016	0.0012	0.0005	0	0.0020	0	0	0	0	0.0004	0.0022	0.0030	0.162	0.23541	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-1.01	0.76168	T	-1.13	0.29114	N	0.045	0.02559	-0.5890	0.65260	T	0.373	0.73159	T	9	0.008723885	0.00198	T	0.010932	0.28020	T	0.179	0.44899	0.36	0.36385	0.312608672186	0.30878	.	.	0.15123232868	0.17072	0.400403320789	0.25125	T	.	.	.	-0.131645	0.31232	T	-0.426876	0.30291	T	0.0208958887590466	0.00790	T	0.427757	0.45191	T	.	.	.	.	.	.	.	.	-8.083	0.61635	D	.	.	0.183	0.39664	B	.;.;.	.;.;.	0.492161	0.08614	5.382	0.67442982664134965	0.08356	0.07155	0.13180	N	AEFI	0.109734	0.21786	N	-0.626383833471058	0.18155	0.9402753	-0.733430989941681	0.16130	0.8518425	0.00459449338617584	0.10632	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.74	0.23636	-1.590000	0.02205	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.676000	0.33425	0.0:0.7439:0.0:0.2561	8.944	0.34907	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.38	6	chr2	178659050	.	C	A	187.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.528;DP=274;ExcessHet=0;FS=0;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=26.1;MQRankSum=-0.621;QD=8.15;ReadPosRankSum=-0.756;SOR=1.179	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	18	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1497	23	0	0	23	0.00762347	.	.	.	56069	Tibial_muscular_dystrophy|Cardiomyopathy|not_specified|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0036869	570	154602	rs140640738	0.0021	0.0022	0.0015	0.0026	0.0204	0.0020	0.0020	0.0195	0.0192	0.0005	0.0007	0.0009	0.0002	7.563e-05	0.0039	0.0010	0.0028	0.0204	0.0018	0.0018	0.0016	0.0021	0.0239	0.0016	0.0016	0.0204	0.0190	0.0003	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0239	0.226	0.18562	T	.	.	.	0.256	0.31372	B	0.076	0.28435	B	.	.	.	.	1	0.81001	D	2.395	0.69210	M	-0.99	0.76168	T	-1.17	0.29933	N	0.162	0.17002	-0.6563	0.62439	T	0.287	0.65899	T	9	0.0028508902	0.00045	T	.	.	.	0.114	0.32008	0.103	0.01643	0.315314060047	0.31143	.	.	0.0921290850825	0.10402	0.378360688686	0.22023	T	.	.	.	-0.455528	0.01047	T	-0.410855	0.32125	T	0.0261382429619195	0.01425	T	0.39586	0.12846	T	.	.	.	.	.	.	.	.	-8.571	0.64898	D	.	.	0.381	0.58487	A	.;.;.;.	.;.;.;.	2.365297	0.30344	18.41	0.79256076521976482	0.12660	0.92980	0.57023	D	AEFBI	0.394143	0.47151	N	-0.239806522051127	0.31511	1.767698	-0.183750437617861	0.32132	1.825115	0.00121544646940768	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.842000	0.27280	.	.	0.665000	0.62972	0.955000	0.33325	1.000000	0.68203	0.867000	0.41218	0.126:0.0681:0.0:0.806	7.624	0.27367	394	0.83065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	642.33	39	chr2	178675085	.	T	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=694;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.643;SOR=0.913	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr2	178712855	178712855	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon91:c.G23438A:p.S7813N,TTN:NM_001256850:exon92:c.G26219A:p.S8740N,TTN:NM_001267550:exon94:c.G27170A:p.S9057N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0131758966293	.	.	4.183e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs768427223	1.163e-05	1.231e-05	6.808e-06	1.651e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.471	0.08458	T	.	.	.	0.055	0.22733	B	0.023	0.19966	B	.	.	.	.	0.999987	0.54805	D	.	.	.	-0.4	0.69287	T	-1.15	0.29525	N	0.29	0.32812	-0.9277	0.44473	T	0.151	0.47874	T	9	0.058496773	0.06885	T	0.013176	0.32380	T	0.086	0.25016	0.465	0.53566	0.143124449307	0.13826	.	.	0.0824360099112	0.09297	0.451746702194	0.32182	T	.	.	.	-0.436397	0.01358	T	-0.564306	0.15975	T	0.0265980951928869	0.01488	T	0.566943	0.23084	T	.	.	.	.	.	.	.	.	-2.381	0.06367	T	.	.	0.085	0.10111	B	.;.;.;.	.;.;.;.	1.876115	0.23830	16.17	0.84197374239661527	0.15152	0.45841	0.27627	N	AEFBI	0.124565	0.24068	N	-0.411774149957724	0.25054	1.357332	-0.276868031658715	0.28862	1.612532	0.00287489255554033	0.09767	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	1.31	0.20837	0.590000	0.23655	.	.	0.599000	0.40250	0.517000	0.27088	0.434000	0.24870	0.983000	0.59808	0.1407:0.3846:0.4747:0.0	12.528	0.55444	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6659.33	34	chr2	178712855	.	C	T	6659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=1226;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.382;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1266	18	0	1	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1495	26	0	0	26	0.00862069	.	.	.	55924	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.192	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.0037192	575	154602	rs149855485	0.0023	0.0023	0.0016	0.0029	0.0210	0.0022	0.0022	0.0202	0.0199	0.0004	0.0007	0.0008	7.559e-05	7.493e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0196	0.0002	0	0.0017	0.0009	0.0002	0	0	0.0017	0.0014	0.0245	0.043	0.41364	D	.	.	.	0.99	0.63424	D	0.683	0.53559	P	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.41	0.52938	N	0.226	0.32259	-0.4178	0.71463	T	0.313	0.68326	T	9	0.005892992	0.00132	T	.	.	.	0.192	0.47115	.	.	0.44711355012	0.44333	.	.	0.349254591091	0.36782	0.562482059002	0.47618	T	.	.	.	-0.371096	0.03539	T	-0.288911	0.45886	T	0.0385244386504448	0.03425	T	0.869813	0.73860	D	.	.	.	.	.	.	.	.	-5.161	0.38543	T	.	.	0.216	0.44617	B	.;.;.;.	.;.;.;.	3.448176	0.47999	22.5	0.86646601825568803	0.16677	0.81721	0.41068	D	AEFBCI	0.334148	0.43301	N	0.419899694833852	0.62517	4.468879	0.441882660854808	0.64196	4.669426	0.364662819652845	0.19811	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	1.594000	0.36307	.	.	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	19.812	0.96549	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.018939	0.02632	1507.33	34	chr2	178717244	.	C	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=750;ExcessHet=0;FS=3.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.19;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	18	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1496	26	0	0	26	0.00861498	.	.	.	55886	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.185	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs149523263	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0003	0.0007	0.0008	5.039e-05	7.491e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0245	0.315	0.13789	T	.	.	.	0.885	0.48692	P	0.484	0.47189	P	.	.	.	.	0.992504	0.41663	D	.	.	.	-0.23	0.66652	T	-3.28	0.65627	D	0.39	0.45615	-0.5456	0.66952	T	0.246	0.61530	T	9	0.0049153566	0.00105	T	.	.	.	0.185	0.45933	0.578	0.70347	0.323615622048	0.31974	.	.	0.255002372626	0.28080	0.692162632942	0.66016	T	.	.	.	-0.403512	0.02196	T	-0.335473	0.40855	T	0.0733571982613626	0.09114	T	0.655934	0.29249	T	.	.	.	.	.	.	.	.	-5.741	0.47264	T	.	.	0.925	0.84574	P	.;.;.;.	.;.;.;.	0.710161	0.10788	7.474	0.85799480559834507	0.16120	0.31520	0.24358	N	AEFBI	0.349517	0.44328	N	-0.44675294682716	0.23851	1.283709	-0.585824586972663	0.19863	1.06759	0.0050570851190488	0.10811	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	-2.56	0.05903	0.894000	0.27983	.	.	-0.113000	0.14837	0.173000	0.23973	0.001000	0.17328	0.989000	0.64315	0.7189:0.0:0.2811:0.0	13.015	0.58157	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1556.33	44	chr2	178720104	.	G	C	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.702;DP=839;ExcessHet=0;FS=3.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.775;SOR=0.959	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	50	2	0	54	0.0180481	.	.	.	55845	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.005051	0.009511	0.029240	0.000000	0.008621	0.012195	0.015152	0.05263	4193.83	35	chr2	178724331	.	G	A	4193.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.324;DP=987;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.611;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	17	0	2	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1494	26	0	0	26	0.00862641	.	.	.	55832	Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs146627500	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0201	0.0198	0.0003	0.0007	0.0008	5.04e-05	7.492e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0244	0.114	0.28646	T	.	.	.	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.42502	T	-0.54	0.16598	N	0.282	0.31925	-1.0827	0.06833	T	0.056	0.23753	T	9	0.003027141	0.00050	T	.	.	.	0.090	0.26093	.	.	0.134241683229	0.13084	.	.	0.0864879405707	0.09766	0.372696995735	0.21219	T	.	.	.	-0.5345	0.00361	T	-0.523629	0.19927	T	0.0105953431527729	0.00148	T	0.708229	0.31875	T	.	.	.	.	.	.	.	.	-3.332	0.15587	T	.	.	0.111	0.21691	B	.;.;.;.	.;.;.;.	0.350729	0.07236	3.837	0.62127654994000703	0.06883	0.05411	0.11281	N	AEFGBCI	0.125355	0.24182	N	-1.21182827757915	0.04826	0.2186909	-1.26363312318132	0.04932	0.2338384	0.999762739685858	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	-6.74	0.01580	-0.713000	0.05110	.	.	-0.123000	0.13640	0.033000	0.20612	0.000000	0.08366	0.939000	0.47918	0.4322:0.3181:0.0839:0.1659	2.94	0.05470	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2003.33	35	chr2	178727190	.	T	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.786;DP=798;ExcessHet=0;FS=1.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.007;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1493	27	0	0	27	0.00896117	.	.	.	55811	Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.286	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0244	0.0037904	586	154602	rs184412722	0.0023	0.0023	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	0.0002	7.493e-05	0.0042	0.0011	0.0030	0.0214	0.0018	0.0018	0.0015	0.0022	0.0244	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.418e-05	0	0.0017	0.0019	0.0244	0.075	0.34444	T	.	.	.	0.362	0.33945	B	0.11	0.31460	B	.	.	.	.	1	0.81001	D	.	.	.	0.32	0.58468	T	-2.25	0.50337	N	0.417	0.45709	-0.5551	0.66591	T	0.244	0.61272	T	9	0.005814582	0.00130	T	.	.	.	0.286	0.60456	.	.	0.173771789658	0.16945	.	.	0.0891353627514	0.10071	0.453017085791	0.32355	T	.	.	.	-0.448893	0.01146	T	-0.400661	0.33307	T	0.0272107643053202	0.01574	T	0.841416	0.55722	T	.	.	.	.	.	.	.	.	-5.947	0.45833	T	.	.	0.347	0.56370	A	.;.;.;.	.;.;.;.	2.852582	0.37665	20.6	0.93888962463808012	0.23911	0.97952	0.78382	D	AEFBI	0.889010	0.82269	D	0.31910689628272	0.57128	3.879228	0.382029825457792	0.60457	4.233519	0.999998892425968	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	6.260000	0.72463	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.068:0.0:0.932	12.2	0.53629	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2283.33	34	chr2	178729332	.	T	C	2283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=950;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.45;SOR=0.652	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1358	18	0	1	0
chr2	178731800	178731800	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.T13343C:p.V4448A,TTN:NM_001256850:exon56:c.T16124C:p.V5375A,TTN:NM_001267550:exon58:c.T17075C:p.V5692A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	228834	Cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.00785641332453	.	0.000199681	6.627e-05	0	0	0	0	1.499e-05	0	0.0004	5.82e-05	9	154602	rs570039271	2.395e-05	2.394e-05	1.906e-05	2.888e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0	0	2.52e-05	0	0	8.995e-07	3.313e-05	0.0004	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	.	.	.	0.022	0.18677	B	0.027	0.21085	B	.	.	.	.	1	0.81001	D	.	.	.	1.05	0.39990	T	-1.88	0.43906	N	0.354	0.40164	-1.0626	0.11118	T	0.068	0.27980	T	9	0.085484326	0.14435	T	0.007856	0.20851	T	0.132	0.35948	0.578	0.70347	0.33440975612	0.33058	.	.	0.107757450643	0.12158	0.429047346115	0.29078	T	.	.	.	-0.35599	0.04362	T	-0.406401	0.32642	T	0.0460064222241467	0.04784	T	0.454655	0.21965	T	.	.	.	.	.	.	.	.	-2.058	0.03408	T	.	.	0.281	0.51445	B	.;.;.;.	.;.;.;.	2.201220	0.28072	17.68	0.87786845563754301	0.17481	0.89743	0.50406	D	AEFBI	0.439232	0.49829	N	-0.137513211814065	0.35767	2.058684	0.0913943659929411	0.44115	2.699501	0.999907575942255	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	3.864000	0.55736	.	.	0.756000	0.94297	0.993000	0.37899	0.999000	0.35428	0.897000	0.43391	1.0:0.0:0.0:0.0	16.394	0.83400	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2112.33	34	chr2	178731800	.	A	G	2112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=914;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.493;SOR=0.575	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1358	18	0	1	0
chr2	178735576	178735576	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1481	38	3	0	44	0.0146374	.	.	.	55759	Cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype|not_specified|TTN-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0229239419314	0.0026	0.00179712	0.0032	0.0005	0.0055	0	0	0.0043	0.0023	0.0015	0.0031436	486	154602	rs72648925	0.0030	0.0030	0.0030	0.0030	0.0210	0.0029	0.0029	0.0180	0.0168	0.0006	0.0053	0.0096	0	0.0004	0.0210	0.0030	0.0054	0.0010	0.0029	0.0029	0.0031	0.0026	0.0048	0.0026	0.0026	0.0040	0.0036	0.0007	0.0724	0.0048	0.0092	0	0.0003	0.0204	0.0031	0.0057	0.0012	0.845	0.02774	T	.	.	.	0.042	0.21471	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.21	0.66294	T	-1.59	0.38345	N	0.218	0.25499	-0.7643	0.57171	T	0.210	0.56973	T	9	0.010286361	0.00230	T	0.022924	0.45860	T	0.101	0.28911	0.411	0.44723	0.267755039894	0.26402	.	.	0.0944205393079	0.10659	0.299888879061	0.10385	T	.	.	.	-0.400026	0.02314	T	-0.345051	0.39772	T	0.0151876776152873	0.00332	T	0.525248	0.26896	T	.	.	.	.	.	.	.	.	-4.441	0.30109	T	.	.	0.092	0.13456	B	.;.;.;.	.;.;.;.	2.060744	0.26204	17.03	0.78687213788378996	0.12409	0.90596	0.51903	D	AEFBI	0.631242	0.61229	D	-0.0168114708298125	0.41095	2.452012	0.154209315163401	0.47365	2.967873	0.99297273192638	0.33037	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.79	0.60909	2.045000	0.40873	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.7496:0.2504	13.953	0.63641	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.005051	0.028533	0.029240	0.000000	0.008621	0.009146	0.000000	0.02632	2033.33	34	chr2	178735576	.	G	C	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.496;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	0	1	0
chr2	178739374	178739374	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.G12770A:p.G4257D,TTN:NM_001256850:exon46:c.G12908A:p.G4303D,TTN:NM_133432:exon46:c.G13145A:p.G4382D,TTN:NM_133437:exon46:c.G13346A:p.G4449D,TTN:NM_001267550:exon48:c.G13859A:p.G4620D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	57005	not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Tibial_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.404	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0237	0.0038033	588	154602	rs55857742	0.0023	0.0023	0.0016	0.0029	0.0215	0.0022	0.0022	0.0207	0.0203	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0011	0.0030	0.0215	0.0018	0.0018	0.0015	0.0022	0.0245	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.413e-05	0	0.0017	0.0019	0.0245	0.072	0.43708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.39	0.80387	T	-3.42	0.67241	D	0.18	0.29544	-0.4215	0.71343	T	0.463	0.79184	T	9	0.0029836297	0.00049	T	.	.	.	0.404	0.71714	.	.	0.460085558651	0.45632	.	.	0.111281827237	0.12551	0.334556162357	0.15621	T	.	.	.	-0.303831	0.08303	T	-0.191623	0.55438	T	0.0117996802454498	0.00183	T	0.761124	0.38584	T	.	.	.	.	.	.	.	.	-6.471	0.51765	T	.	.	0.263	0.49778	B	.;.;.;.;.;.	.;.;.;.;.;.	2.343047	0.30033	18.31	0.8799622643053111	0.17638	0.83349	0.42473	D	AEFBI	0.400265	0.47522	N	0.110203264691486	0.46938	2.926641	0.242081919184515	0.52201	3.396456	0.989212832954963	0.31756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	4.11	0.47350	2.483000	0.44891	.	.	0.599000	0.40250	0.985000	0.35982	0.982000	0.30508	0.916000	0.45140	0.0:0.8472:0.0:0.1528	12.781	0.56855	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.026515	0.02632	2740.33	34	chr2	178739374	.	C	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=860;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.742;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr2	178740653	178740653	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.A11491T:p.I3831F,TTN:NM_001256850:exon46:c.A11629T:p.I3877F,TTN:NM_133432:exon46:c.A11866T:p.I3956F,TTN:NM_133437:exon46:c.A12067T:p.I4023F,TTN:NM_001267550:exon48:c.A12580T:p.I4194F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	56990	Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_2|Tibial_muscular_dystrophy|not_specified|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.00299521	0.0055	0.0009	0.0043	0	0.0219	0.0057	0.0078	0.0042	0.0052975	819	154602	rs34618570	0.0069	0.0069	0.0071	0.0067	0.0070	0.0068	0.0067	0.0069	0.0068	0.0007	0.0048	0.0006	2.521e-05	0.0229	0.0009	0.0070	0.0067	0.0043	0.0060	0.0061	0.0047	0.0075	0.0064	0.0057	0.0056	0.0059	0.0057	0.0013	0	0.0058	0.0003	0	0.0290	0	0.0064	0.0038	0.0050	0.116	0.34800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610667	0.32618	D	.	.	.	0.23	0.62183	T	-1.47	0.36980	N	0.119	0.10911	-1.0001	0.29888	T	0.084	0.32872	T	9	0.0029030144	0.00047	T	.	.	.	0.087	0.25287	.	.	0.442775082573	0.43898	.	.	0.135862692089	0.15322	0.299296498299	0.10295	T	.	.	.	-0.524741	0.00413	T	-0.520133	0.20280	T	0.00357285521115748	0.00038	T	0.728227	0.36333	T	.	.	.	.	.	.	.	.	-4.504	0.32422	T	.	.	0.138	0.30022	B	.;.;.;.;.;.	.;.;.;.;.;.	0.909426	0.12836	9.351	0.61580015160357771	0.06744	0.85559	0.44704	D	AEBI	0.569282	0.57413	D	-0.828822805991774	0.12577	0.6139307	-0.773280992937793	0.15151	0.7954179	0.990516968018341	0.32178	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	2.68	0.30839	2.312000	0.43386	.	.	-0.278000	0.06506	0.812000	0.29879	0.005000	0.19230	0.267000	0.23694	0.0:0.2125:0.0:0.7875	8.187	0.30506	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	3005.33	34	chr2	178740653	.	T	A	3005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=966;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.53;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr2	178746258	178746258	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G16142A:p.R5381H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	588045	TTN-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.0115312968031	.	0.000399361	0.0005	9.752e-05	0.0002	0.0005	0	4.536e-05	0	0.0027	0.0003687	57	154602	rs369189673	0.0002	0.0002	8.449e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	5.996e-05	2.245e-05	3.84e-05	7.574e-05	0	0	1.44e-05	0.0003	0.0023	0.0001	0.0001	9.007e-05	0.0001	0.0027	7.584e-05	6.288e-05	0.0016	0.0013	4.818e-05	0	0	0	0.0004	0	0	0	0.0005	0.0027	0.371	0.11514	T	0.362	0.16865	T	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	0.523058	0.81001	D	.	.	.	-0.29	0.67712	T	-1.19	0.30346	N	0.596	0.61511	-0.3507	0.73533	T	0.412	0.75978	T	9	0.044131517	0.03336	T	0.011531	0.29247	T	0.215	0.50805	.	.	0.671674792424	0.66890	.	.	.	.	.	.	.	.	.	.	-0.374101	0.03392	T	-0.315073	0.43113	T	0.0642101473675281	0.07814	T	0.727827	0.34232	T	.	.	.	.	.	.	.	.	-4.853	0.35202	T	.	.	.	.	.	.	.	3.698450	0.52737	23.3	0.99330076060802996	0.59738	0.97082	0.72584	D	AEFBI	0.854323	0.77134	D	0.762309675555994	0.83705	8.087631	0.774211238844797	0.87950	9.402501	0.999999999892197	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.88	5.88	0.94564	6.171000	0.71829	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9288:0.0:0.0712	13.438	0.60547	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1710.33	35	chr2	178746258	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.443;DP=792;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.368;SOR=0.613	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1310	18	0	1	0
chr2	178746913	178746913	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.C15487T:p.R5163C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	173276	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0116044365935	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs727504760	1.642e-05	1.71e-05	1.498e-05	1.788e-05	6.714e-05	1.111e-05	9.34e-06	1.781e-05	8.94e-06	0	6.714e-05	0	5.04e-05	1.872e-05	0	1.259e-05	1.656e-05	3.478e-05	6.58e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.094	0.31383	T	0.064	0.44905	T	0.996	0.68779	D	0.9	0.63913	P	.	.	.	.	1	0.81001	D	.	.	.	0.02	0.62318	T	-0.18	0.09796	N	0.419	0.45898	-0.5554	0.66580	T	0.277	0.64926	T	9	0.52102077	0.62643	D	0.011604	0.29387	T	0.226	0.52472	0.598	0.72862	0.674760430698	0.67200	.	.	.	.	.	.	.	.	.	.	-0.153327	0.27793	T	-0.361166	0.37918	T	0.357133461060079	0.27297	T	0.565243	0.19970	T	.	.	.	.	.	.	.	.	-5.423	0.41140	T	.	.	.	.	.	.	.	2.106326	0.26800	17.24	0.99779199927319373	0.86606	0.65408	0.32728	D	AEFBI	0.475781	0.51947	N	0.41999079274405	0.62520	4.469442	0.420439445270871	0.62840	4.506384	0.999989835507333	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	5.819000	0.68924	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.077:0.0:0.923:0.0	12.805	0.56992	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2378.33	35	chr2	178746913	.	G	A	2378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.855;DP=856;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.395;SOR=0.601	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2392,0,2578	18	0	1	0
chr2	178747908	178747908	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G14492A:p.C4831Y	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1495	27	0	0	27	0.00894929	.	.	.	56937	not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0016	0.00599042	0.0048	0.0002	0.0013	0.0002	0.0002	0.0024	0.0022	0.0236	0.004075	630	154602	rs150615457	0.0025	0.0025	0.0019	0.0031	0.0214	0.0024	0.0024	0.0206	0.0202	0.0004	0.0007	0.0078	0.0002	7.494e-05	0.0043	0.0012	0.0034	0.0214	0.0020	0.0020	0.0017	0.0023	0.0243	0.0018	0.0018	0.0207	0.0194	0.0003	0	0.0020	0.0069	0	9.418e-05	0	0.0018	0.0019	0.0243	0.164	0.23360	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.62	0.18248	N	0.365	0.40665	-1.0397	0.17404	T	0.056	0.23677	T	9	0.0023964047	0.00036	T	.	.	.	0.071	0.20720	.	.	0.104622674875	0.10061	.	.	.	.	.	.	.	.	.	.	-0.606244	0.00133	T	-0.626684	0.10667	T	0.000297577760647982	0.00002	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	-2.316	0.04644	T	.	.	.	.	.	.	.	0.582094	0.09507	6.283	0.46977788880536381	0.03805	0.06117	0.12094	N	ALL	0.051159	0.09011	N	-1.2018487862931	0.04973	0.2256495	-1.16424173951511	0.06516	0.3138828	0.999981151506482	0.51787	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.62	-0.0456	0.13179	0.703000	0.25321	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1987:0.2859:0.0:0.5154	4.639	0.11923	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.030303	0.02632	2179.33	35	chr2	178747908	.	C	T	2179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.569;DP=1089;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=2.78;SOR=0.708	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr2	178748073	178748073	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.T14327C:p.L4776S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1514	5	2	0	9	0.00296345	.	.	.	56935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	.	0.00259585	0.0016	0	0.0017	0.0001	0	0.0002	0.0022	0.0098	0.0014036	217	154602	rs142132973	0.0009	0.0009	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0011	0.0002	5.048e-05	0	0.0092	0.0002	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0089	0.0004	0.0004	0.0068	0.0061	2.409e-05	0	0.0005	0.0003	0.0002	0	0	0.0003	0.0009	0.0089	0.0	0.91255	D	0.413	0.14412	T	0.013	0.16609	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	-0.49	0.70365	T	1.61	0.00644	N	0.133	0.12913	-0.8046	0.54873	T	0.247	0.61647	T	9	0.003499031	0.00062	T	.	.	.	0.114	0.32008	.	.	0.415820034956	0.41198	.	.	.	.	.	.	.	.	.	.	-0.57488	0.00207	T	-0.591303	0.13552	T	0.0135396634239514	0.00249	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-3.488	0.16265	T	.	.	.	.	.	.	.	-0.157106	0.03316	0.578	0.99023995424720712	0.50634	0.09458	0.15209	N	ALL	0.060665	0.11546	N	-1.01190128807363	0.08356	0.391508	-1.05563316139597	0.08590	0.4230754	0.999981579601552	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	6.05	-0.358	0.11950	0.142000	0.15917	.	.	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.553:0.0:0.447:0.0	10.317	0.42927	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	2854.33	35	chr2	178748073	.	A	G	2854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=1073;ExcessHet=0;FS=5.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.579;SOR=0.983	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr2	178756545	178756545	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133437:exon44:c.G10418A:p.S3473N,TTN:NM_001267550:exon46:c.G10931A:p.S3644N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	141536	not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.106	.	0.0003	0.0161741	0.0066	0.0001	0.0004	0.0576	0.0227	0.0014	0.0112	0.0027	0.0059637	922	154602	rs78535378	0.0037	0.0037	0.0037	0.0038	0.0861	0.0036	0.0036	0.0837	0.0827	0.0002	0.0002	0.0007	0.0861	0.0247	0.0017	0.0002	0.0035	0.0022	0.0042	0.0043	0.0032	0.0053	0.0622	0.0040	0.0039	0.0566	0.0544	9.621e-05	0	0.0003	0.0012	0.0622	0.0235	0	0.0007	0.0014	0.0025	0.636	0.05061	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.23052	N	.	.	.	-0.5	0.70480	T	0.16	0.05217	N	0.063	0.03502	-1.0805	0.07252	T	0.007	0.02399	T	8	0.0015839636	0.00018	T	.	.	.	0.106	0.30130	.	.	0.444807159249	0.44105	.	.	0.0777257753559	0.08742	.	.	.	.	.	.	-0.617091	0.00115	T	-0.562468	0.16145	T	0.0113518299514934	0.00169	T	0.338366	0.07261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.559225	0.19974	14.53	0.93154339230994887	0.22803	0.22221	0.21673	N	AEFGBI	.	.	.	-0.339329586410404	0.27666	1.519755	-0.250841348771231	0.29742	1.668832	0.999995802299368	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	4.63	0.57175	0.633000	0.24289	.	.	0.599000	0.40250	0.132000	0.23378	0.000000	0.08366	0.856000	0.40543	0.1429:0.6449:0.1382:0.074	5.716	0.17232	341	0.85936	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1959.33	42	chr2	178756545	.	C	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.502;DP=899;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.696;SOR=0.665	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	178766401	178766401	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon40:c.C9545T:p.S3182F,TTN:NM_133432:exon40:c.C9545T:p.S3182F,TTN:NM_133437:exon40:c.C9545T:p.S3182F,TTN:NM_001256850:exon41:c.C9683T:p.S3228F,TTN:NM_001267550:exon41:c.C9683T:p.S3228F,TTN:NM_133378:exon41:c.C9683T:p.S3228F,TTN:NM_133379:exon41:c.C9683T:p.S3228F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0475012508315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.001	0.83351	D	0.988	0.68779	D	0.81	0.68059	P	.	.	.	.	0.963057	0.38326	D	.	.	.	3.22	0.07024	T	-4.11	0.80085	D	0.309	0.70527	-1.1209	0.02276	T	0.071	0.28806	T	9	0.29437706	0.47010	T	0.047501	0.62952	D	0.196	0.47777	0.603	0.73466	0.33085137897	0.32697	.	.	0.38453098163	0.39751	0.653679609299	0.60509	T	.	.	.	0.0324084	0.56044	T	-0.191224	0.55474	T	0.625253500037995	0.37422	D	0.957104	0.87368	D	.	.	.	.	.	.	.	.	-7.961	0.60803	D	.	.	0.451	0.62276	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.029868	0.59586	24.1	0.97240958490695262	0.32996	0.92178	0.55119	D	AEFGBI	0.774195	0.70797	D	0.692413797684951	0.79136	7.014239	0.697101974735015	0.82156	7.69839	0.999999997839338	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	4.692000	0.61431	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.648	0.95787	339	0.86048	.;.;Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype;Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1858.33	34	chr2	178766401	.	G	A	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=793;ExcessHet=0;FS=2.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.102;SOR=0.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	18	0	1	0
chr2	178774998	178774998	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon28:c.C6575T:p.T2192M,TTN:NM_133432:exon28:c.C6575T:p.T2192M,TTN:NM_133437:exon28:c.C6575T:p.T2192M,TTN:NM_001256850:exon29:c.C6713T:p.T2238M,TTN:NM_001267550:exon29:c.C6713T:p.T2238M,TTN:NM_133378:exon29:c.C6713T:p.T2238M,TTN:NM_133379:exon29:c.C6713T:p.T2238M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1518	2	1	0	4	0.00131579	.	.	YES	56495	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Ventricular_tachycardia|not_provided|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00600512130116	.	.	0.0002	9.614e-05	0.0003	0	0	0.0003	0	0	0.0001488	23	154602	rs201284459	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	5.976e-05	0.0004	0	0	0	0.0017	0.0001	0.0002	8.115e-05	5.258e-05	5.254e-05	6.424e-05	4.036e-05	0.0002	2.558e-05	1.831e-05	5.291e-05	2.837e-05	2.413e-05	0	0.0002	0	0	0	0	5.881e-05	0	0	0.143	0.25355	T	1.0	0.01155	T	0.002	0.12996	B	0.002	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	3.56	0.04696	T	-1.81	0.42575	N	0.15	0.15888	-0.9321	0.43829	T	0.006	0.01944	T	9	0.017633706	0.00378	T	0.006005	0.15668	T	0.077	0.22490	.	.	0.0551355673512	0.04727	.	.	0.0870122964197	0.09816	0.221312403679	0.01387	T	.	.	.	-0.5552	0.00271	T	-0.724765	0.04569	T	0.0199940782040358	0.00700	T	0.484852	0.19565	T	.	.	.	.	.	.	.	.	-3.408	0.15164	T	.	.	0.058	0.00693	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.696875	0.35217	19.84	0.73345169560619428	0.10294	0.08777	0.14656	N	AEFGBI	0.131488	0.25044	N	-1.15273992424132	0.05735	0.2622282	-1.02004009742779	0.09344	0.4643864	0.668219105286703	0.22346	0.516011	0.20929	0	0.601575	0.49859	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.62	2.43	0.28797	2.718000	0.46904	.	.	-0.104000	0.15758	0.110000	0.22992	0.999000	0.35428	0.880000	0.42090	0.3948:0.0:0.4485:0.1567	4.165	0.09768	344	0.85734	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1551.33	33	chr2	178774998	.	G	A	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=775;ExcessHet=0;FS=1.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.21;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr2	178775871	178775871	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.G5855A:p.R1952H,TTN:NM_133432:exon27:c.G5855A:p.R1952H,TTN:NM_133437:exon27:c.G5855A:p.R1952H,TTN:NM_001256850:exon28:c.G5993A:p.R1998H,TTN:NM_001267550:exon28:c.G5993A:p.R1998H,TTN:NM_133378:exon28:c.G5993A:p.R1998H,TTN:NM_133379:exon28:c.G5993A:p.R1998H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	56421	Tip-toe_gait|Tibial_muscular_dystrophy|TTN-related_myopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_provided|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0481180325089	0.0008	0.00159744	0.0018	0	8.649e-05	0.0001	0	0.0012	0.0011	0.0079	0.0014553	225	154602	rs144135510	0.0009	0.0009	0.0007	0.0012	0.0077	0.0009	0.0009	0.0072	0.0070	0.0002	0.0002	0.0078	2.519e-05	1.872e-05	0.0012	0.0004	0.0011	0.0077	0.0008	0.0008	0.0007	0.0009	0.0087	0.0007	0.0006	0.0066	0.0059	0.0001	0	0.0002	0.0066	0	0	0	0.0007	0	0.0087	0.017	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.939	0.75477	D	.	.	.	.	0.937106	0.37179	D	.	.	.	-0.2	0.66113	T	-3.12	0.76496	D	0.338	0.62611	-0.3866	0.72448	T	0.343	0.70851	T	9	0.0073085725	0.00166	T	0.048118	0.63228	D	0.246	0.55340	.	.	0.323342291347	0.31936	.	.	0.4417022315	0.44153	0.709797382355	0.68565	T	.	.	.	-0.303787	0.08307	T	-0.20458	0.54212	T	0.0792865792762227	0.09894	T	0.979302	0.94722	D	.	.	.	.	.	.	.	.	-8.638	0.66661	D	.	.	0.230	0.46250	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.859124	0.79503	27.1	0.97431441238290972	0.33931	0.90618	0.51944	D	AEFBI	0.704456	0.66017	D	0.570552651699765	0.71343	5.636335	0.589103562354271	0.74155	6.089477	0.999991015998139	0.74766	0.553676	0.25195	0	0.54472	0.11627	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	4.802000	0.62233	.	.	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.559	0.91047	344	0.85734	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001514	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2042.33	33	chr2	178775871	.	C	T	2042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=828;ExcessHet=0;FS=8.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.929;SOR=0.64	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.33	33	chr2	178776739	.	G	C	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.822;DP=1051;ExcessHet=0;FS=96.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.65;SOR=6.438	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr2	178795088	178795088	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon7:c.G1079C:p.R360T,TTN:NM_001267550:exon7:c.G1079C:p.R360T,TTN:NM_003319:exon7:c.G1079C:p.R360T,TTN:NM_133378:exon7:c.G1079C:p.R360T,TTN:NM_133379:exon7:c.G1079C:p.R360T,TTN:NM_133432:exon7:c.G1079C:p.R360T,TTN:NM_133437:exon7:c.G1079C:p.R360T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1498	24	0	0	24	0.00794702	.	.	.	55752	Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0119808	0.0062	0.0158	0.0023	0	0.0002	0.0024	0.0022	0.0242	0.0056015	866	154602	rs56128843	0.0029	0.0029	0.0024	0.0035	0.0222	0.0028	0.0028	0.0213	0.0210	0.0161	0.0017	0.0078	5.04e-05	5.63e-05	0.0045	0.0011	0.0043	0.0222	0.0061	0.0061	0.0058	0.0064	0.0253	0.0057	0.0056	0.0217	0.0203	0.0139	0	0.0042	0.0069	0	9.414e-05	0.0034	0.0018	0.0047	0.0253	0.202	0.40573	T	0.148	0.32675	T	0.049	0.39849	B	0.024	0.35463	B	.	.	.	.	0.991562	0.24656	N	.	.	.	0.05	0.61923	T	-2.16	0.55501	N	0.211	0.26111	-1.0117	0.26385	T	0.084	0.32872	T	9	0.0042310655	0.00085	T	.	.	.	0.205	0.49236	.	.	0.326074293725	0.32213	.	.	0.131694048728	0.14851	0.443247795105	0.31022	T	.	.	.	-0.358862	0.04195	T	-0.270672	0.47751	T	0.00485736865674171	0.00052	T	0.771723	0.42389	T	.	.	.	.	.	.	.	.	-3.089	0.12383	T	.	.	0.258	0.49285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.871459	0.37970	20.6	0.87640978987418272	0.17374	0.93855	0.59386	D	AEFDBI	0.579134	0.58006	D	-0.140723798226333	0.35630	2.049057	0.0513447974566371	0.42138	2.543468	0.997183769758073	0.35354	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.566403	0.31848	0	.	.	6.16	4.37	0.51830	1.105000	0.30699	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.990000	0.65344	0.0:0.6524:0.1423:0.2053	6.433	0.21009	365	0.84644	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008560	0.000000	0.004076	0.008772	0.000000	0.000000	0.009146	0.034091	0.02632	2937.33	34	chr2	178795088	.	C	G	2937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.826;DP=876;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.12;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	18	0	1	0
chr2	178799710	178799710	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon6:c.G691A:p.A231T,TTN:NM_001267550:exon6:c.G691A:p.A231T,TTN:NM_003319:exon6:c.G691A:p.A231T,TTN:NM_133378:exon6:c.G691A:p.A231T,TTN:NM_133379:exon6:c.G691A:p.A231T,TTN:NM_133432:exon6:c.G691A:p.A231T,TTN:NM_133437:exon6:c.G691A:p.A231T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	686087	not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0260772671225	.	.	0.0002	0	8.639e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs752452129	5.336e-05	5.336e-05	2.586e-05	8.113e-05	0.0008	4.344e-05	4.017e-05	0.0007	0.0006	0	0	0	0	0	0.0003	1.799e-06	6.623e-05	0.0008	1.314e-05	1.313e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.0	0.91255	D	0.139	0.33666	T	0.779	0.53363	P	0.232	0.50343	B	.	.	.	.	0.991947	0.41514	D	.	.	.	-0.11	0.64445	T	-2.07	0.57275	N	0.451	0.80375	-0.4375	0.70813	T	0.273	0.64484	T	9	0.07129669	0.10491	T	0.026077	0.49013	D	0.205	0.49236	0.246	0.18139	0.281381271821	0.27740	.	.	0.114828217214	0.12950	0.640542149544	0.58641	T	.	.	.	-0.235449	0.15935	T	-0.17158	0.57299	T	0.253864350667746	0.23045	T	0.862314	0.60027	D	.	.	.	.	.	.	.	.	-2.973	0.09893	T	.	.	0.143	0.31583	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.677361	0.52329	23.2	0.99735991644658117	0.83119	0.93860	0.59400	D	AEFBI	0.510549	0.53955	D	0.37098195795485	0.59856	4.168598	0.490362219092646	0.67348	5.072188	0.999999957002301	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.02	6.02	0.97559	3.233000	0.51011	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.541	0.99263	364	0.84707	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	33	chr2	178799710	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.836;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.771;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr2	178802144	178802144	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon3:c.G289A:p.V97M,TTN:NM_001267550:exon3:c.G289A:p.V97M,TTN:NM_003319:exon3:c.G289A:p.V97M,TTN:NM_133378:exon3:c.G289A:p.V97M,TTN:NM_133379:exon3:c.G289A:p.V97M,TTN:NM_133432:exon3:c.G289A:p.V97M,TTN:NM_133437:exon3:c.G289A:p.V97M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	173627	not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|not_provided|Dilated_cardiomyopathy_1G	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.623	.	0.0003	0.00119808	0.0021	0.0003	8.637e-05	0	0.0228	0.0014	0.0066	0	0.0017011	263	154602	rs185921345	0.0011	0.0011	0.0011	0.0011	0.0007	0.0010	0.0010	0.0002	0.0001	0.0002	2.236e-05	0.0007	2.519e-05	0.0246	0.0007	0.0002	0.0011	4.638e-05	0.0020	0.0020	0.0013	0.0027	0.0008	0.0018	0.0017	0.0004	0.0004	0.0002	0	0	0.0012	0.0008	0.0234	0	0.0006	0.0009	0	0.004	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.84481	D	.	.	.	.	0.836786	0.42826	D	.	.	.	-1.24	0.78967	T	-1.83	0.53258	N	0.438	0.78641	0.782	0.94191	D	0.683	0.89058	D	9	0.008271962	0.00188	T	.	.	.	0.623	0.85406	.	.	0.762971822872	0.76081	.	.	0.454083579922	0.45095	0.673191070557	0.63292	T	.	.	.	-0.215569	0.18602	T	-0.0879748	0.64313	T	0.0544091394271735	0.06259	T	0.985101	0.95549	D	.	.	.	.	.	.	.	.	-9.74	0.72396	D	.	.	0.878	0.81337	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.367601	0.67210	25.1	0.96433080349155653	0.29799	0.96253	0.68242	D	AEFBI	0.809447	0.73295	D	1.0330374043781	0.96673	14.99194	0.945742052970925	0.97275	15.86066	0.999999999992921	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	6.088000	0.71022	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9272:0.0:0.0728	13.159	0.58953	365	0.84644	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1150.33	33	chr2	178802144	.	C	T	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=765;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.482;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	18	0	1	0
chr2	178802236	178802236	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon3:c.C197T:p.T66M,TTN:NM_001267550:exon3:c.C197T:p.T66M,TTN:NM_003319:exon3:c.C197T:p.T66M,TTN:NM_133378:exon3:c.C197T:p.T66M,TTN:NM_133379:exon3:c.C197T:p.T66M,TTN:NM_133432:exon3:c.C197T:p.T66M,TTN:NM_133437:exon3:c.C197T:p.T66M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	499789	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_9|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.0657148149623	7.7e-05	.	5.767e-05	0	0	0	0.0005	5.993e-05	0	0	4.53e-05	7	154602	rs372755739	4.652e-05	4.72e-05	5.173e-05	4.125e-05	0.0001	3.727e-05	3.411e-05	5.395e-05	4.042e-05	0	0	3.826e-05	0	0.0001	0	4.586e-05	1.656e-05	0.0001	3.943e-05	3.94e-05	2.57e-05	5.382e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	9.423e-05	0	7.349e-05	0	0	0.401	0.12632	T	0.495	0.11371	T	0.014	0.29645	B	0.006	0.17295	B	.	.	.	.	0.982535	0.24956	N	.	.	.	-0.43	0.69657	T	-0.85	0.23156	N	0.297	0.37093	-0.8896	0.48969	T	0.214	0.57560	T	9	0.0671556	0.09317	T	0.065715	0.69661	D	0.124	0.34239	.	.	0.236890367714	0.23314	.	.	0.0878705355583	0.09920	0.201941877604	0.00515	T	.	.	.	-0.315913	0.07238	T	-0.48891	0.23506	T	0.00964201055597439	0.00125	T	0.750125	0.39028	T	.	.	.	.	.	.	.	.	-6.153	0.49775	T	.	.	0.072	0.04159	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.010852	0.13896	10.46	0.72860483964098388	0.10121	0.18212	0.20166	N	AEFBI	0.192848	0.31999	N	-0.959385433418334	0.09483	0.4490033	-0.958952796039051	0.10716	0.5414996	0.999733164857888	0.42341	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	-1.97	0.07091	-0.354000	0.07731	.	.	-0.892000	0.02379	0.139000	0.23489	0.000000	0.08366	0.761000	0.36181	0.6679:0.0:0.2151:0.1171	8.683	0.33382	365	0.84644	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr2	178802236	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=771;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=0.122;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	18	0	1	0
chr2	178834304	178834304	C	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon24:c.G4462A:p.G1488S	.	432	1086	4	0	0	4	0.00183824	.	.	.	2879573	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.381	.	.	0.00159744	0.0026	0	0.0053	0.0051	0.0170	0.0005	0.0106	0.0005	0.0003234	50	154602	rs199670476	0.0005	0.0005	0.0005	0.0005	0.0029	0.0005	0.0005	0.0025	0.0023	6.332e-05	2.801e-05	0.0004	0.0029	0.0119	0.0002	0.0001	0.0007	0.0005	0.0016	0.0016	0.0007	0.0024	0.0060	0.0014	0.0013	0.0043	0.0038	9.632e-05	0	0	0.0006	0.0060	0.0173	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993537	0.41970	D	.	.	.	.	.	.	.	.	.	.	.	-0.1797	0.78187	T	0.388	0.74298	T	9	0.0074644983	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483738660812	0.36571	T	.	.	.	-0.339454	0.05426	T	-0.257211	0.49101	T	0.0996705841103163	0.12321	T	0.630337	0.24523	T	.	.	.	.	.	.	.	.	-9.424	0.70386	D	.	.	0.288	0.51976	B	.	.	5.019157	0.83397	28.0	0.99845786951854953	0.92576	0.95954	0.66877	D	AEFHIJ	0.812178	0.73497	D	0.817819474525873	0.87206	9.138969	0.756319616195019	0.86629	8.950768	0.99999999955792	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.612816	0.40813	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	4.535000	0.60341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.079	0.97766	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001337	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2249.33	34	chr2	178834304	.	C	T	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=803;ExcessHet=0;FS=3.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.311;SOR=0.89	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	178855422	178855422	A	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon19:c.T2985A:p.D995E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00713625890927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160406402	6.85e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.474	0.12107	T	.	.	.	.	.	.	0.287130	0.14836	N	0.620505	0.980796	0.25086	N	.	.	.	1.42	0.33189	T	-1.8	0.42384	N	.	.	-1.0122	0.26228	T	0.047	0.19998	T	10	0.124570936	0.23662	T	0.007136	0.18924	T	0.011	0.01250	.	.	0.215869574891	0.21205	.	.	.	.	0.286740630865	0.08449	T	.	.	.	-0.314792	0.07332	T	-0.589323	0.13724	T	0.174302995204926	0.18868	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	-4.409	0.29679	T	.	.	0.142	0.31279	B	.;.	.;.	1.836510	0.23336	15.98	0.98780944943128846	0.46127	0.71548	0.35061	D	AEFDBIJ	0.278580	0.39283	N	-0.455059705837334	0.23569	1.266592	-0.309176119536091	0.27802	1.545284	0.979168076759836	0.29998	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.99	2.52	0.29514	1.280000	0.32807	.	.	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.954000	0.50415	0.7306:0.138:0.0:0.1314	8.368	0.31558	376	0.83959	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	38	chr2	178855422	.	A	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=699;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.237;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1340	18	0	1	0
chr2	179115204	179115204	T	G	exonic	SESTD1	.	nonsynonymous SNV	SESTD1:NM_178123:exon16:c.A1700C:p.Q567P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0659102629389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.011	0.64786	D	0.932	0.51990	P	0.888	0.63021	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.27	0.36146	T	-4.18	0.75537	D	0.761	0.75927	-0.9764	0.35816	T	0.131	0.44228	T	9	0.69685227	0.72198	D	0.06591	0.69720	D	0.337	0.65913	0.437	0.48993	0.225033846419	0.22103	0.7481086516992231	0.74756	1.48735837486	0.86818	0.81251001358	0.83877	D	0.373431	0.73743	T	0.100603	0.64359	D	-0.0932666	0.63914	T	0.984897792339325	0.76055	D	0.945705	0.79334	D	0.7609886	0.81511	0.69621557	0.82112	0.7609886	0.81513	0.69621557	0.82113	-14.944	0.95720	D	.	.	0.978	0.90812	P	.	.	4.281433	0.65228	24.8	0.99317469120849367	0.59241	0.99708	0.98849	D	AEFBI	0.963889	0.98590	D	0.480963320345414	0.65980	4.89115	0.518023461500823	0.69204	5.327058	0.999932432932992	0.46732	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	7.650000	0.82668	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:0.0:1.0	15.898	0.79134	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	808.33	42	chr2	179115204	.	T	G	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.55;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr2	179143632	179143632	T	C	exonic	SESTD1	.	nonsynonymous SNV	SESTD1:NM_178123:exon9:c.A809G:p.K270R	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0291635053176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.07969	T	0.359	0.17014	T	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.39	0.33842	T	-0.32	0.12283	N	0.713	0.71587	-0.9917	0.32167	T	0.118	0.41516	T	9	0.49204352	0.61049	T	0.029164	0.51725	D	0.258	0.56959	0.232	0.16005	0.387796008065	0.38391	0.2798859471908921	0.27901	0.864032496067	0.69109	0.831209421158	0.86747	D	0.014327	0.12216	T	0.0178592	0.54092	T	-0.212123	0.53493	T	0.644984722137451	0.38248	D	0.90061	0.65471	D	0.115773536	0.27314	0.17988692	0.40752	0.115773536	0.27314	0.17988692	0.40751	-2.391	0.05078	T	.	.	0.094	0.14477	B	.	.	3.551061	0.49917	22.9	0.99871214182382562	0.94902	0.97905	0.78016	D	AEFBI	0.899454	0.84386	D	0.562200111451444	0.70828	5.559224	0.646704126960891	0.78366	6.861707	0.999999510568725	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.654000	0.82708	7.912000	0.74078	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.641	0.84955	277	0.89083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	97	chr2	179143632	.	T	C	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=719;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.175;SOR=1.007	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1309	18	0	1	0
chr2	181535469	181535471	AAG	-	exonic	ITGA4	.	nonframeshift deletion	ITGA4:NM_000885:exon28:c.3041_3043del:p.E1016del	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0036	0.0006	0	0.0001	0	9.021e-05	0.0045	0.0257	0.0001537	4	26028	rs537103343	0.0015	0.0015	0.0009	0.0021	0.0225	0.0014	0.0014	0.0217	0.0213	0.0002	0	0	2.532e-05	1.877e-05	0	0.0001	0.0016	0.0225	0.0008	0.0008	0.0005	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005133	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.022727	0.02632	2034.29	34	chr2	181535468	.	CAAG	C	2034.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.517;DP=739;ExcessHet=0;FS=10.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-1.352;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	18	0	1	0
chr2	181909915	181909915	G	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon8:c.G971A:p.G324E,ITPRID2:NM_001130445:exon9:c.G1430A:p.G477E,ITPRID2:NM_001287503:exon9:c.G1430A:p.G477E,ITPRID2:NM_006751:exon9:c.G1430A:p.G477E	.	438	1083	1	0	0	1	0.000461467	.	.	.	3264714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0128927682625	.	.	2.507e-05	0	0	0	0	4.551e-05	0	0	2.59e-05	4	154602	rs774253208	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	6.098e-05	2.523e-05	2.99e-05	0	0	0	0	0.0003	1.17e-05	3.315e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.051	0.39575	T	0.207	0.28764	T	1.0	0.90584	D	1.0	0.97372	D	0.005501	0.32753	N	0.315132	0.998194	0.44615	D	.	.	.	2.69	0.14907	T	0.68	0.02297	N	0.417	0.46274	-1.0334	0.19363	T	0.104	0.38169	T	10	0.33399087	0.50580	T	0.012893	0.31852	T	0.265	0.57870	0.156	0.05964	0.610517158426	0.60738	0.19022676294235558	0.18940	0.0664007650245	0.07407	0.662418723106	0.61756	T	0.055659	0.30070	T	-0.130903	0.31349	T	-0.362164	0.37803	T	0.593658924102783	0.36150	D	0.949205	0.80472	D	0.16293472	0.36401	0.17155227	0.39346	0.16293472	0.36401	0.17155227	0.39345	-0.791	0.00864	T	.	.	0.337	0.69665	B	.;.;.	.;.;.	3.771079	0.54161	23.5	0.99791675974391292	0.87750	0.88992	0.49197	D	AEFBCI	0.720470	0.67102	D	0.579193706544566	0.71876	5.718199	0.603721542566357	0.75210	6.270371	0.999999999920794	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	4.531000	0.60314	7.666000	0.64515	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	18.637	0.91337	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	34	chr2	181909915	.	G	A	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.011;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	0	1	0
chr2	181915997	181915997	G	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon10:c.G1898A:p.R633Q,ITPRID2:NM_001130445:exon11:c.G2357A:p.R786Q,ITPRID2:NM_001287503:exon11:c.G2357A:p.R786Q,ITPRID2:NM_006751:exon11:c.G2357A:p.R786Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00522913950568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867145815	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	4.56e-06	5.974e-05	0	0	2.519e-05	0	0	0	0	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.496	0.07944	T	0.515	0.10967	T	0.0	0.02946	B	0.001	0.04355	B	0.822287	0.06891	N	1.075750	1	0.08975	N	.	.	.	2.84	0.13095	T	0.43	0.03297	N	0.102	0.08506	-0.9391	0.42759	T	0.012	0.04795	T	10	0.03508693	0.01742	T	0.005229	0.13341	T	0.069	0.20116	0.063	0.00257	0.0884992946249	0.08302	0.04744002941713298	0.04687	0.0242011642753	0.02460	0.230435460806	0.02000	T	0.032217	0.22391	T	-0.354169	0.04470	T	-0.746516	0.03623	T	0.025373783741459	0.01322	T	0.146985	0.03449	T	0.07757952	0.17616	0.027628906	0.00930	0.07757952	0.17616	0.027628906	0.00930	-3.155	0.11939	T	.	.	0.064	0.02609	B	.;.;.;.	.;.;.;.	0.496065	0.08651	5.423	0.63728113490892568	0.07301	0.02886	0.07670	N	AEFBCI	0.058057	0.10864	N	-1.30589101898465	0.03607	0.1614251	-1.21751798218967	0.05628	0.268698	0.991533794551612	0.32521	0.722319	0.85440	0	0.724815	0.89359	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.95	1.43	0.21585	1.969000	0.40134	0.148000	0.15257	-0.105000	0.15698	0.009000	0.18154	0.001000	0.17328	0.003000	0.05239	0.768:0.0:0.0987:0.1333	7.756	0.28088	679	0.60090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1682.33	33	chr2	181915997	.	G	A	1682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.172;SOR=0.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	181922056	181922056	T	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon14:c.T2794A:p.S932T,ITPRID2:NM_001287503:exon15:c.T3253A:p.S1085T,ITPRID2:NM_001130445:exon16:c.T3319A:p.S1107T,ITPRID2:NM_006751:exon16:c.T3319A:p.S1107T	.	433	1088	1	0	0	1	0.000459348	.	.	.	3264748	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.00982272340155	0.0005	0.000199681	0.0003	9.623e-05	8.64e-05	0	0.0003	0.0005	0.0011	0	0.0002652	41	154602	rs138326546	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	2.987e-05	2.236e-05	0	0	0.0006	0.0007	0.0003	0.0003	3.478e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	7.213e-05	0	6.538e-05	0	0	0.0008	0	0.0008	0.0005	0.0002	0.003	0.68238	D	0.168	0.92824	T	0.993	0.65571	D	0.879	0.62418	P	0.000003	0.62929	D	0.000000	0.962777	0.38310	D	.	.	.	2.37	0.19588	T	0.04	0.57435	N	0.504	0.57946	-0.9327	0.43740	T	0.117	0.41363	T	10	0.07118794	0.10460	T	0.009823	0.25608	T	0.135	0.36572	.	.	0.510113526977	0.50651	0.26370517449098746	0.26283	0.186698491415	0.20978	0.59881067276	0.52737	T	0.111936	0.42781	T	-0.400446	0.02300	T	-0.354465	0.38692	T	0.0876544298459212	0.10937	T	0.905609	0.66735	D	0.16259912	0.36347	0.1886192	0.42162	0.16259912	0.36347	0.1886192	0.42161	-5.435	0.48548	T	.	.	0.151	0.43640	B	.;.;.;.;.	.;.;.;.;.	4.305231	0.65771	24.9	0.99429015490677952	0.64179	0.84706	0.43793	D	AEFBCI	0.518853	0.54438	D	0.626806268040794	0.74877	6.207714	0.6208304070407	0.76453	6.494086	0.999988612710137	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.627000	0.46135	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1378:0.8622	12.646	0.56097	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1639.33	33	chr2	181922056	.	T	A	1639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=761;ExcessHet=0;FS=1.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-2.065;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr2	184937150	184937150	C	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C1754G:p.T585S	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0022486078475	7.7e-05	0.000199681	0.0002	0	8.781e-05	0	0	0.0002	0	0.0005	0.0001746	27	154602	rs373736637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	0	0.0001	0	2.527e-05	0	0.0007	0.0001	0.0002	0.0004	7.231e-05	7.221e-05	7.716e-05	6.724e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	8.825e-05	0	0.0008	0.227	0.18498	T	0.738	0.09425	T	0.024	0.19075	B	0.005	0.11217	B	0.004619	0.33568	N	0.210118	1	0.08975	N	2.33	0.66821	M	3.46	0.05249	T	-0.23	0.10656	N	0.071	0.04426	-0.9303	0.44095	T	0.011	0.04274	T	10	0.015689284	0.00329	T	0.002249	0.04287	T	0.020	0.03691	0.134	0.03833	0.043077524339	0.03247	0.0639701319482684	0.06336	0.0334174714276	0.03497	0.312005460262	0.12210	T	0.001972	0.06354	T	-0.52297	0.00423	T	-0.68157	0.06888	T	0.0419196830486211	0.04041	T	0.454055	0.13467	T	0.03717625	0.04717	0.044322427	0.05715	0.03717625	0.04716	0.044322427	0.05714	-2.756	0.07786	T	.	.	0.094	0.14614	B	.;.	.;.	0.865412	0.12382	8.917	0.87965321728069046	0.17614	0.05640	0.11551	N	AEFI	0.045505	0.07449	N	-0.854265832769596	0.11945	0.5793774	-0.765417446010792	0.15344	0.8065327	2.40740943943437E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	2.63	0.30420	0.817000	0.26938	-0.462000	0.09033	-0.176000	0.10722	0.876000	0.30908	0.000000	0.08366	0.969000	0.54022	0.1562:0.4669:0.2945:0.0824	4.200	0.09919	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	692.33	41	chr2	184937150	.	C	G	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1019;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.247;SOR=1.094	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr2	184938136	184938136	C	T	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C2740T:p.P914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00673362327205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05183	T	0.574	0.09457	T	0.004	0.12183	B	0.003	0.08700	B	0.109549	0.19480	N	0.478541	1	0.08975	N	1.525	0.38595	L	3.51	0.04959	T	0.14	0.05405	N	0.03	0.00717	-0.9365	0.43164	T	0.010	0.03537	T	10	0.04475823	0.03469	T	0.006734	0.17784	T	0.014	0.01968	0.11	0.02049	0.043077524339	0.03247	0.0698540818434061	0.06923	0.0408902475237	0.04386	0.199956983328	0.00455	T	0.001953	0.01974	T	-0.336386	0.05642	T	-0.720972	0.04749	T	0.0425404077469503	0.04154	T	0.586341	0.21412	T	0.058596496	0.11808	0.043295868	0.05356	0.058596496	0.11808	0.043295868	0.05356	-1.731	0.02312	T	.	.	0.073	0.04640	B	.;.	.;.	-0.299201	0.02620	0.328	0.14121060946965622	0.00301	0.02231	0.06481	N	AEFDBI	0.035270	0.04511	N	-0.971839317562574	0.09208	0.4348858	-0.964992722237471	0.10577	0.5336033	0.00110585530623819	0.08228	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	0.828	0.17978	0.310000	0.19112	-0.451000	0.09099	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3382:0.3951:0.2666	3.885	0.08599	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2352.33	109	chr2	184938136	.	C	T	2352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.653;DP=1598;ExcessHet=0;FS=9.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.624;SOR=0.737	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr2	185788763	185788763	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.T1627C:p.Y543H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00952230166686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.233e-07	6.84e-07	0	1.466e-06	2.802e-05	0	0	.	.	0	2.802e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.151	0.32355	T	.	.	.	.	.	.	0.029353	0.25467	N	0.285083	1	0.08975	N	0.975	0.24501	L	0.7	0.51474	T	-4.2	0.75695	D	0.25	0.28264	-0.9920	0.32089	T	0.131	0.44088	T	8	0.1811865	0.33338	T	0.009522	0.24924	T	0.045	0.12272	.	.	0.300110245524	0.29617	0.30507823696496533	0.30420	.	.	0.402892738581	0.25472	T	0.084235	0.37232	T	-0.129528	0.31573	T	-0.423834	0.30638	T	0.827134609222412	0.48309	D	0.648535	0.25952	T	0.1483487	0.33872	0.2051832	0.44677	0.1483487	0.33872	0.2051832	0.44676	-3.151	0.11891	T	.	.	0.141	0.31048	B	.	.	1.106358	0.14913	11.43	0.9066698345914308	0.19918	0.02831	0.07574	N	AEFI	0.055248	0.10114	N	-0.416646077433976	0.24884	1.346905	-0.528388235583338	0.21383	1.156521	2.15378788892171E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	2.23	0.27189	0.465000	0.21715	1.558000	0.27338	0.665000	0.62972	0.000000	0.06391	0.214000	0.23665	0.747000	0.35681	0.0:0.2565:0.0:0.7435	7.014	0.24056	790	0.46189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2287.33	33	chr2	185788763	.	T	C	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.35;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.05;SOR=0.711	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1292	18	0	1	0
chr2	185789355	185789355	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G2219A:p.R740H	.	430	1087	4	1	0	6	0.00275229	.	.	.	2754654	not_specified|FSIP2-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0289105577056	.	0.00159744	0.0018	0	0	0	0	0.0007	0	0.0029	0.0003363	52	154602	rs79400482	0.0009	0.0008	0.0008	0.0010	0.0026	0.0008	0.0008	0.0023	0.0022	0.0003	0.0011	0	2.8e-05	8.834e-05	0.0002	0.0008	0.0008	0.0026	0.0008	0.0008	0.0009	0.0006	0.0025	0.0007	0.0006	0.0014	0.0011	0.0002	0	0.0017	0	0.0002	0	0	0.0010	0.0014	0.0025	0.031	0.45039	D	0.055	0.46862	T	.	.	.	.	.	.	0.075671	0.02299	N	1.876640	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.43	0.14390	N	0.049	0.02088	-1.0217	0.23162	T	0.062	0.25672	T	8	0.0062770247	0.00142	T	0.028911	0.51509	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.07121006052287021	0.07058	.	.	0.250207602978	0.03789	T	0.003943	0.03353	T	-0.654057	0.00068	T	-0.71502	0.05040	T	0.0156200355927939	0.00358	T	0.221578	0.02858	T	0.026352307	0.01682	0.024798859	0.00506	0.026352307	0.01682	0.024798859	0.00506	-4.191	0.26621	T	.	.	0.085	0.10304	B	.	.	0.138914	0.05329	1.819	0.6463340533995261	0.07548	0.01385	0.04712	N	AEFGI	.	.	.	-1.04577682632431	0.07671	0.3571204	-1.09009670663688	0.07894	0.3858648	7.52851396010441E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.94	0.25058	-0.033000	0.12196	-0.011000	0.13060	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2873:0.4819:0.1508:0.08	3.778	0.08188	790	0.46189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	33	chr2	185789355	.	G	A	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=1329;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.76;SOR=0.643	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1292	18	0	1	0
chr2	185790930	185790930	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G3794A:p.R1265H	.	432	1084	4	2	0	8	0.00367647	.	.	.	3214547	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00938498	0.0231	0	0.0127	0	0	0	0	0.0417	0.0024644	381	154602	rs200959994	0.0022	0.0022	0.0013	0.0032	0.0374	0.0022	0.0021	0.0362	0.0357	0.0002	0.0002	0	5.612e-05	0	0.0009	2.511e-05	0.0027	0.0374	0.0014	0.0014	0.0008	0.0020	0.0398	0.0012	0.0011	0.0352	0.0334	0.0002	0	0	0	0.0004	0	0	0	0.0014	0.0398	0.238	0.17821	T	0.397	0.15157	T	.	.	.	.	.	.	0.802356	0.06777	N	1.094680	1	0.08975	N	-1.15	0.00907	N	0.95	0.43279	T	1.06	0.01297	N	0.022	0.00372	-1.0050	0.28457	T	0.054	0.22883	T	8	0.0026957989	0.00042	T	.	.	.	0.018	0.03083	.	.	.	.	0.03942693988362319	0.03888	.	.	0.263157516718	0.05272	T	8.33E-4	0.00412	T	-0.651516	0.00071	T	-0.680771	0.06936	T	0.00641867255947901	0.00071	T	0.289271	0.05243	T	0.028150957	0.02110	0.039733328	0.04134	0.028150957	0.02109	0.039733328	0.04134	-3.151	0.11891	T	.	.	0.059	0.00847	B	.	.	0.663501	0.10320	7.050	0.84808125793802402	0.15510	0.00257	0.01410	N	AEFDI	.	.	.	-0.900536729878747	0.10829	0.5194833	-0.969374266741157	0.10478	0.5279287	1.17094141688093E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	0.271	0.14894	0.451000	0.21492	1.782000	0.28725	-0.676000	0.04273	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.6836:0.0:0.3164:0.0	6.301	0.20319	786	0.46839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004110	0.000000	0.000000	0.006024	0.000000	0.000000	0.000000	0.013514	0.02632	1614.33	111	chr2	185790930	.	G	A	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.741;DP=2203;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.268;SOR=0.69	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	18	0	1	0
chr2	185792126	185792126	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G4990A:p.D1664N	.	428	1091	3	0	0	3	0.001373	.	.	.	3966555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0476939883215	.	0.000599042	0.0012	0	0	0	0	0	0	0.0022	0.0001358	21	154602	rs569770014	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0.0004	3.992e-05	0	2.953e-05	0.0012	0.0001	0.0004	0.0021	0.0002	0.0002	7.746e-05	0.0003	0.0025	0.0001	9.739e-05	0.0014	0.0011	0	0	0.0004	0	0	0	0	0.0001	0	0.0025	0.055	0.38407	T	0.142	0.33330	T	.	.	.	.	.	.	0.001077	0.40389	N	0.112602	1	0.08975	N	2.325	0.66631	M	0.01	0.62459	T	-4.15	0.75297	D	0.207	0.22998	-0.7340	0.58761	T	0.259	0.63021	T	8	0.01400122	0.00295	T	0.047694	0.63038	D	0.195	0.47612	.	.	0.449088463789	0.44533	0.5581696758350817	0.55743	.	.	0.433680683374	0.29712	T	0.174182	0.52332	T	-0.543511	0.00319	T	-0.559968	0.16380	T	0.118613614928243	0.14294	T	0.636336	0.25008	T	0.12564525	0.29448	0.15569644	0.36485	0.12564525	0.29448	0.15569644	0.36484	-3.24	0.12976	T	.	.	0.105	0.19194	B	.	.	2.468319	0.31809	18.85	0.98714370433386345	0.45098	0.44685	0.27372	N	AEFI	.	.	.	-0.0968816772268129	0.37529	2.184697	-0.172513095613968	0.32552	1.853104	8.40684253490875E-5	0.04703	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	4.31	0.50718	2.795000	0.47553	4.480000	0.43530	0.676000	0.76740	0.741000	0.29037	1.000000	0.68203	0.031000	0.13245	0.0:0.0:0.8124:0.1876	10.888	0.46185	781	0.47532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002695	0.000000	0.000000	0.000000	0.000000	0.000000	0.006024	0.000000	0.02632	2614.33	194	chr2	185792126	.	G	A	2614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.636;DP=2889;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.23;SOR=0.894	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	18	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S	.	436	1070	16	0	0	16	0.00742115	.	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.009259	0.015957	0.016129	0.023256	0.000000	0.000000	0.000000	0.000000	0.02632	2040.33	91	chr2	185796083	.	G	A	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1823;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.828;SOR=0.631	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr2	185803399	185803399	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.T14093C:p.V4698A	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.039174188685	.	0.000399361	0.0018	0	0	0	0	0	0	0.0036	0.0002199	34	154602	rs182963899	0.0004	0.0003	0.0003	0.0005	0.0037	0.0003	0.0003	0.0033	0.0032	0	0.0004	4e-05	0	2.947e-05	0.0023	0.0001	0.0007	0.0037	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0001	0.0021	0.0017	0	0	0.0004	0	0	0	0	0.0001	0	0.0033	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999608	0.20887	N	1.245	0.31408	L	0.7	0.51474	T	-3.67	0.70191	D	0.217	0.24260	-0.9963	0.30946	T	0.086	0.33466	T	7	0.016221017	0.00341	T	0.039174	0.58658	D	0.159	0.41286	.	.	0.350307294319	0.34646	0.2011767321406828	0.20034	.	.	0.34696751833	0.17475	T	0.088186	0.38105	T	-0.42679	0.01550	T	-0.388882	0.34683	T	0.0631665977021789	0.07657	T	0.313269	0.06152	T	0.2177495	0.44265	0.26292327	0.52091	0.2177495	0.44265	0.26292327	0.52090	-4.554	0.31589	T	.	.	0.126	0.26794	B	.	.	1.000578	0.13788	10.34	0.78148227299068107	0.12176	0.47867	0.28079	N	AEFCI	.	.	.	-0.219174100903874	0.32347	1.823286	-0.196571479347642	0.31663	1.793979	0.0013480638109157	0.08462	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.91	4.91	0.63897	0.988000	0.29216	0.931000	0.22780	-0.178000	0.10482	0.831000	0.30147	0.629000	0.25856	0.009000	0.08673	0.0:0.0:0.0:1.0	10.860	0.46030	736	0.53558	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4760.83	68	chr2	185803399	.	T	C	4760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.36;DP=1942;ExcessHet=0.119;FS=2.895;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.341;SOR=0.869	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2316,0,1927	17	0	2	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V	.	435	1058	27	2	0	31	0.0144388	.	.	.	3210115	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002577	0.000000	0.007246	0.000000	0.000000	0.000000	0.005682	0.000000	0.05263	4964.81	68	chr2	185804598	.	A	G	4964.81	.	AC=2;AF=0.053;AN=38;DP=1755;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=0.948	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	18	1	0	0
chr2	185809103	185809103	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G19797C:p.K6599N	.	428	1042	49	3	0	55	0.0257129	.	.	.	3199559	FSIP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0073	0.00678914	0.0116	0.0016	0.0042	0.0002	0.0166	0.0124	0.0173	0.0272	0.0103815	1605	154602	rs116639972	0.0093	0.0092	0.0088	0.0098	0.0225	0.0092	0.0091	0.0216	0.0213	0.0013	0.0045	0.0046	5.079e-05	0.0181	0.0168	0.0087	0.0090	0.0225	0.0075	0.0075	0.0070	0.0081	0.0249	0.0072	0.0070	0.0212	0.0199	0.0015	0	0.0041	0.0063	0.0002	0.0138	0.0102	0.0105	0.0076	0.0249	0.023	0.48186	D	0.067	0.44302	T	.	.	.	.	.	.	0.806472	0.09284	N	0.911688	1	0.08975	N	1.845	0.48678	L	0.73	0.50721	T	-2.68	0.57275	D	0.129	0.12341	-0.9822	0.34491	T	0.068	0.27879	T	8	0.0036090612	0.00065	T	.	.	.	0.014	0.01968	.	.	.	.	0.0519133847101251	0.05133	.	.	0.26068842411	0.04973	T	0.05467	0.29791	T	-0.613095	0.00121	T	-0.635191	0.10024	T	0.022243021460658	0.00936	T	0.653235	0.26349	T	0.15171036	0.34474	0.12621611	0.30401	0.15171036	0.34474	0.12621611	0.30400	-3.901	0.22318	T	.	.	0.319	0.54463	B	.	.	0.746859	0.11166	7.803	0.99714873155108819	0.81633	0.03258	0.08289	N	AEFI	.	.	.	-0.588860956506698	0.19282	1.007925	-0.710675363931795	0.16695	0.884392	1.7529838628638E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-1.78	0.07527	-0.771000	0.04805	-0.560000	0.08482	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.378000	0.26290	0.5388:0.0:0.3047:0.1566	4.555	0.11531	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal	RP11-410E4.1	Brain_Hypothalamus	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011917	0.005051	0.008152	0.010490	0.000000	0.000000	0.036585	0.011364	0.02632	876.33	40	chr2	185809103	.	G	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=791;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.351;SOR=1.093	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	46.32	37	chr2	186504214	.	G	C	46.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=870;ExcessHet=0;FS=27.45;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=1.86;SOR=4.546	GT:AD:DP:GQ:PL	./.:41,0:41:0:0,0,611	9	0	1	9
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	1518.25	38	chr2	186504215	.	G	A	1518.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,12:43:18:.:.:60,0,221:.	14	0	3	2
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,13:43:18:.:.:60,18,237:.	6	0	11	2
chr2	186508609	186508611	ACA	-	exonic	ZC3H15	.	nonframeshift deletion	ZC3H15:NM_018471:exon10:c.1157_1159del:p.N387del	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001294	20	154602	rs771050701	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	2.988e-05	0.0002	0	0	0	0.0012	0.0001	0.0004	0.0002	7.224e-05	7.218e-05	8.996e-05	5.371e-05	0.0002	3.969e-05	3.126e-05	6.805e-05	5.088e-05	2.406e-05	0	0	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1197.29	34	chr2	186508608	.	GACA	G	1197.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=696;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.498;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr2	186837373	186837373	G	T	exonic	ZSWIM2	.	nonsynonymous SNV	ZSWIM2:NM_182521:exon5:c.C676A:p.L226M	.	438	1042	39	3	0	45	0.0211367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0052	0.00758786	0.0063	0.0007	0.0046	0.0003	0.0023	0.0064	0.0088	0.0152	0.0060995	943	154602	rs112852209	0.0061	0.0061	0.0057	0.0066	0.0215	0.0060	0.0060	0.0184	0.0173	0.0010	0.0049	0.0092	2.521e-05	0.0016	0.0215	0.0058	0.0071	0.0157	0.0052	0.0052	0.0051	0.0054	0.0180	0.0049	0.0048	0.0150	0.0138	0.0010	0.0230	0.0082	0.0086	0.0004	0.0027	0.0170	0.0064	0.0085	0.0180	0.01	0.56456	D	0.041	0.50514	D	0.998	0.73220	D	0.956	0.69739	D	0.026222	0.25954	N	0.186044	0.999995	0.08975	N	2.685	0.78553	M	-2.35	0.88066	D	-0.7	0.19933	N	0.498	0.53093	-0.0390	0.81439	T	0.672	0.88650	D	10	0.009911716	0.00222	T	.	.	.	0.280	0.59740	.	.	0.791342778918	0.78940	0.32150059492245986	0.32063	0.0631787556016	0.07030	0.470625162125	0.34766	T	0.00634	0.05774	T	-0.314603	0.07348	T	-0.212358	0.53470	T	0.0367514119437494	0.03112	T	0.623338	0.24021	T	0.13558008	0.31461	0.11903988	0.28733	0.13558008	0.31461	0.11903988	0.28732	-5.48	0.41681	T	.	.	0.118	0.24192	B	.	.	2.776612	0.36460	20.3	0.99566399658400728	0.72136	0.76340	0.37433	D	AEFBI	0.141867	0.26416	N	0.291440255807139	0.55713	3.735498	0.18552157423038	0.49053	3.113237	1.37602646018858E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	2.77	0.31614	2.477000	0.44839	2.839000	0.35068	0.618000	0.50648	0.933000	0.32380	0.998000	0.33993	0.918000	0.45347	0.256:0.0:0.744:0.0	8.823	0.34195	472	0.77968	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.010101	0.017663	0.002924	0.000000	0.025862	0.033537	0.018939	0.02632	1383.33	38	chr2	186837373	.	G	T	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=759;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.26;SOR=0.751	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	187484906	187484906	G	T	exonic	TFPI	.	nonsynonymous SNV	TFPI:NM_001032281:exon5:c.C440A:p.T147K,TFPI:NM_006287:exon5:c.C440A:p.T147K,TFPI:NM_001318941:exon6:c.C440A:p.T147K,TFPI:NM_001329240:exon6:c.C440A:p.T147K,TFPI:NM_001329241:exon6:c.C440A:p.T147K,TFPI:NM_001329239:exon7:c.C440A:p.T147K	.	431	1077	13	1	0	15	0.00691563	.	.	.	697209	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0007	0.00339457	0.0023	9.682e-05	0.0006	0	0	0.0012	0.0022	0.0115	0.0021798	337	154602	rs145362964	0.0017	0.0018	0.0014	0.0021	0.0107	0.0017	0.0016	0.0101	0.0099	0.0001	0.0009	0.0026	2.615e-05	3.759e-05	0.0035	0.0013	0.0016	0.0107	0.0011	0.0011	0.0010	0.0013	0.0133	0.0010	0.0010	0.0107	0.0097	0.0002	0	0.0007	0.0020	0.0006	0	0	0.0011	0.0019	0.0133	0.004	0.68238	D	0.003	0.76473	D	0.004	0.26920	B	0.058	0.35540	B	0.095127	0.20138	N	0.522228	0.999999	0.08975	N	1.115	0.28702	L	0.28	0.59037	T	-2.83	0.59710	D	0.245	0.34659	-0.9439	0.41992	T	0.169	0.50842	T	10	0.006154537	0.00139	T	.	.	.	0.194	0.47447	.	.	0.702643714836	0.70006	0.7596616269546297	0.75914	0.705682767766	0.61405	0.460870265961	0.33430	T	0.354962	0.72204	T	-0.350493	0.04696	T	-0.268273	0.47994	T	0.0690983527222691	0.08525	T	0.822218	0.48193	T	0.29618052	0.52560	0.29761112	0.55794	0.29618052	0.52560	0.29761112	0.55793	-6.134	0.47387	T	.	.	0.321	0.58697	B	.;.;.;.;.	.;.;.;.;.	4.020530	0.59374	24.1	0.9635561730039498	0.29533	0.95093	0.63412	D	AEFBI	0.945176	0.95317	D	-0.184955865533176	0.33760	1.919048	-0.077110583661863	0.36338	2.113496	0.999999973600661	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.570000	0.81721	11.288000	0.91948	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.268000	0.23719	0.0:0.0:1.0:0.0	17.368	0.87258	563	0.71062	Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain;Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain;Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain|Pancreatic trypsin inhibitor Kunitz domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.02632	852.33	83	chr2	187484906	.	G	T	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=705;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.293;SOR=0.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr2	188997207	188997207	C	A	exonic	COL3A1	.	nonsynonymous SNV	COL3A1:NM_000090:exon25:c.C1804A:p.P602T	Ehlers-Danlos syndrome, type IV, Autosomal dominant	6	1480	34	2	0	38	0.0126751	.	.	YES	140548	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_provided|not_specified|Ehlers-Danlos_syndrome,_type_4	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	.	0.0051	0.00459265	0.0044	0.0028	0.0035	0	0.0023	0.0063	0.0044	0.0013	0.0045148	698	154602	rs35795890	0.0056	0.0056	0.0056	0.0056	0.0231	0.0055	0.0055	0.0199	0.0187	0.0038	0.0044	0.0054	0	0.0026	0.0231	0.0062	0.0067	0.0015	0.0051	0.0051	0.0054	0.0048	0.0088	0.0048	0.0047	0.0076	0.0072	0.0032	0.0022	0.0088	0.0061	0	0.0029	0.0170	0.0062	0.0137	0.0004	0.257	0.16738	T	0.194	0.34596	T	0.5	0.37145	P	0.491	0.47360	P	0.000167	0.48594	D	0.000000	0.999987	0.54805	D	2.17	0.60663	M	-3.21	0.93291	D	-2.94	0.61435	D	0.538	0.56576	0.468	0.90086	D	0.750	0.91461	D	10	0.019590318	0.00440	T	.	.	.	0.432	0.73807	.	.	0.666604380541	0.66380	0.505887764471684	0.50510	0.701659533164	0.61175	0.552785634995	0.46250	T	0.74382	0.92926	D	-0.212023	0.19096	T	-0.0741653	0.65329	T	0.0324853885028538	0.02385	T	0.956971	0.83666	D	0.1438616	0.33047	0.182762	0.41223	0.12463344	0.29238	0.18800995	0.42066	-5.25	0.40455	T	0.17285243274658627	0.21869	0.059	0.00780	B	.;.	.;.	2.711398	0.35441	19.90	0.98417760763383189	0.41244	0.98382	0.82208	D	AEFBI	0.830994	0.74962	D	0.363796007484067	0.59471	4.126867	0.465489916956993	0.65717	4.859266	0.999754629188474	0.42595	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.03	6.03	0.97798	2.990000	0.49090	2.034000	0.30268	0.599000	0.40250	0.989000	0.36753	0.975000	0.29991	0.932000	0.46971	0.0:1.0:0.0:0.0	20.155	0.98103	839	0.37672	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.035354	0.027174	0.017544	0.050000	0.034483	0.012195	0.003788	0.02632	2687.33	33	chr2	188997207	.	C	A	2687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=951;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.462;SOR=0.597	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	40.5	32	chr2	189057318	.	A	C	40.5	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.631;DP=837;ExcessHet=0.119;FS=125.926;InbreedingCoeff=-0.1093;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.27;SOR=7.614	GT:AD:DP:GQ:PL	0/0:46,6:52:32:0,32,1126	14	0	2	3
chr2	189068016	189068016	G	A	exonic	COL5A2	.	nonsynonymous SNV	COL5A2:NM_000393:exon21:c.C1400T:p.P467L	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	0.0023	0.078	YES	140643	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_2|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.266	.	0.0117	0.00858626	0.0028	0.0310	0.0009	0	0	1.504e-05	0.0011	0.0001	0.0025291	391	154602	rs115570272	0.0009	0.0009	0.0011	0.0008	0.0324	0.0009	0.0009	0.0308	0.0302	0.0324	0.0012	0	2.52e-05	0	0.0012	8.283e-05	0.0019	6.957e-05	0.0092	0.0092	0.0097	0.0087	0.0313	0.0088	0.0086	0.0299	0.0294	0.0313	0	0.0045	0	0	0	0	0.0001	0.0099	0	0.359	0.11957	T	0.343	0.17857	T	0.0	0.02946	B	0.0	0.01387	B	0.418965	0.12896	N	0.690561	0.852468	0.35246	D	2.155	0.60227	M	-4.51	0.97672	D	-0.1	0.08495	N	0.085	0.06190	0.360	0.88496	D	0.679	0.88888	D	9	0.0141711235	0.00298	T	.	.	.	0.266	0.57999	.	.	0.574025660704	0.57070	0.06052584474761591	0.05992	0.409775159195	0.41788	0.430266231298	0.29244	T	0.256242	0.62713	T	-0.388952	0.02732	T	-0.307104	0.43970	T	0.00774569092025374	0.00090	T	0.749125	0.37025	T	0.021974063	0.00830	0.033092644	0.02149	0.02741783	0.01930	0.033740066	0.02318	-5.357	0.40504	T	0.061419244298593814	0.01752	0.059	0.00742	B	.;.	.;.	3.429509	0.47660	22.5	0.82028313204655778	0.13982	0.77225	0.37946	D	AEFBI	0.222185	0.34671	N	-0.279320758627153	0.29948	1.665359	-0.136273528018563	0.33941	1.946895	0.921508023880055	0.26674	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.74	3.94	0.44807	1.299000	0.33028	6.621000	0.56120	-0.106000	0.15538	0.948000	0.32982	1.000000	0.68203	0.947000	0.49155	0.2773:0.0:0.7227:0.0	9.142	0.36069	836	0.38045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1236.33	33	chr2	189068016	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=699;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.998;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1058	18	0	1	0
chr2	189068227	189068227	G	A	exonic	COL5A2	.	nonsynonymous SNV	COL5A2:NM_000393:exon20:c.C1301T:p.T434M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	2	1509	11	0	0	11	0.00363156	0.0025	0.204	YES	209562	not_specified|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_2|Connective_tissue_disorder|not_provided|Ehlers-Danlos_syndrome,_classic_type,_1|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MedGen:CN169374|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.229	0.0590324780846	0.0018	0.000399361	0.0018	0	8.67e-05	0	0.0005	0.0027	0.0033	0.0018	0.0016171	250	154602	rs145850743	0.0012	0.0012	0.0011	0.0012	0.0021	0.0011	0.0011	0.0015	0.0014	0.0002	0.0002	0.0293	0	0.0004	0.0021	0.0005	0.0026	0.0017	0.0012	0.0012	0.0012	0.0011	0.0019	0.0010	0.0010	0.0010	0.0007	0.0002	0.0132	0.0001	0.0268	0	0.0002	0.0034	0.0007	0.0033	0.0019	0.088	0.32296	T	0.138	0.33780	T	0.025	0.19245	B	0.013	0.16460	B	0.000035	0.55875	D	0.000000	0.98319	0.39984	D	1.03	0.25572	L	-3.41	0.94306	D	-1.61	0.38734	N	0.313	0.35301	-0.0730	0.80710	T	0.597	0.85635	D	9	0.01739955	0.00371	T	0.059032	0.67525	D	0.229	0.52916	.	.	0.652360573229	0.64946	0.09867706354062715	0.09798	0.938037164653	0.72112	0.441466838121	0.30777	T	0.346631	0.71486	T	-0.288362	0.09801	T	-0.211616	0.53540	T	0.0383728711862613	0.03398	T	0.817618	0.47476	T	0.035361096	0.04147	0.06214971	0.12114	0.032855596	0.03391	0.06461538	0.12978	-5.013	0.36981	T	0.15083449891557466	0.17747	0.088	0.11510	B	.;.	.;.	3.549983	0.49897	22.9	0.99376958943212335	0.61715	0.95345	0.64359	D	AEFBI	0.310504	0.41650	N	-0.399433187436685	0.25490	1.384032	-0.235931315977408	0.30259	1.702185	0.994288675256262	0.33568	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.22	4.35	0.51454	2.466000	0.44742	6.591000	0.56026	-0.759000	0.03520	0.995000	0.38783	1.000000	0.68203	0.633000	0.32236	0.0732:0.0:0.9268:0.0	13.808	0.62734	837	0.37933	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1428.33	40	chr2	189068227	.	G	A	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.939;SOR=0.771	GT:AD:DP:GQ:PL	0/1:38,57:95:99:1442,0,784	18	0	1	0
chr2	189689880	189689880	A	T	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon3:c.A955T:p.I319L,ANKAR:NM_144708:exon3:c.A955T:p.I319L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0078573028721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226922867	5.581e-06	5.473e-06	1.387e-06	9.822e-06	7.254e-06	2.4e-06	1.74e-06	3.12e-06	2.26e-06	0	0	0	0	0	0	7.254e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.32675	T	0.002	0.09854	B	0.003	0.08700	B	0.011481	0.29512	N	0.299061	0.935099	0.37109	D	1.63	0.41750	L	0.59	0.53943	T	-0.74	0.20791	N	0.224	0.26233	-0.8784	0.49888	T	0.143	0.46422	T	10	0.1287174	0.24487	T	0.007857	0.20851	T	0.070	0.20419	0.303	0.27164	0.716887018219	0.71440	0.3422800668710417	0.34141	0.0989282270927	0.11174	0.607162237167	0.53915	T	0.007958	0.07329	T	-0.117764	0.33491	T	-0.406936	0.32579	T	0.296673656073513	0.24866	T	0.620138	0.23804	T	0.115836054	0.27330	0.123793356	0.29848	0.115836054	0.27330	0.123793356	0.29847	-2.871	0.08857	T	.	.	0.107	0.20078	B	.;.	.;.	3.165146	0.42900	21.6	0.98177769524422676	0.38916	0.75431	0.36932	D	AEFGI	0.190327	0.31756	N	-0.0863713463985017	0.37990	2.218304	0.0659348526068162	0.42849	2.599024	0.946951009653852	0.27730	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.97	4.82	0.61641	2.112000	0.41516	4.044000	0.41450	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7833:0.1423:0.0744:0.0	7.558	0.27000	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr2	189689880	.	A	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=734;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.735;SOR=0.79	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1369,0,1190	18	0	1	0
chr2	189694986	189694986	A	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon6:c.A1313C:p.Y438S,ANKAR:NM_144708:exon6:c.A1313C:p.Y438S	.	.	.	.	.	.	.	.	.	.	.	707900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.210	.	0.0059	0.00599042	0.0030	0.0300	0.0012	0	0	0.0001	0	9.397e-05	0.0016365	253	154602	rs115747871	0.0006	0.0006	0.0007	0.0006	0.0235	0.0006	0.0006	0.0221	0.0215	0.0235	0.0012	0	0	0	0.0010	1.424e-05	0.0013	1.585e-05	0.0063	0.0063	0.0066	0.0060	0.0220	0.0060	0.0058	0.0208	0.0203	0.0220	0	0.0022	0	0	0	0.0034	2.94e-05	0.0047	0	0.179	0.22053	T	0.087	0.40747	T	.	.	.	.	.	.	0.000210	0.47681	D	0.000000	0.976576	0.39288	D	2.535	0.73915	M	0.93	0.44065	T	-2.34	0.51811	N	0.731	0.75466	-0.9798	0.35048	T	0.092	0.34983	T	8	0.009079933	0.00205	T	.	.	.	0.210	0.50028	.	.	0.604032067404	0.60086	0.7337775217222232	0.73322	0.389124977791	0.40165	0.634785175323	0.57824	T	0.012424	0.10924	T	-0.389095	0.02726	T	-0.314099	0.43218	T	0.0417772622357799	0.04013	T	0.743326	0.36245	T	0.23123224	0.45891	0.23168594	0.48307	0.23123224	0.45892	0.23168594	0.48306	-3.007	0.10256	T	.	.	0.204	0.43032	B	.;.	.;.	4.259828	0.64723	24.7	0.98709483132765219	0.45025	0.92719	0.56379	D	AEFI	0.722690	0.67254	D	0.331616794068215	0.57778	3.946558	0.409317816603991	0.62146	4.425083	0.999778314649122	0.42865	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	4.782000	0.62089	10.995000	0.84717	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	15.343	0.74023	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003027	0.010204	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1560.33	34	chr2	189694986	.	A	C	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.481;DP=736;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.742;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr2	190497538	190497538	G	A	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375993:exon5:c.G377A:p.R126H,MFSD6:NM_001375994:exon5:c.G377A:p.R126H,MFSD6:NM_001375987:exon6:c.G1991A:p.R664H,MFSD6:NM_001375989:exon6:c.G1991A:p.R664H,MFSD6:NM_001375990:exon6:c.G1991A:p.R664H,MFSD6:NM_001375986:exon7:c.G1991A:p.R664H,MFSD6:NM_001375988:exon7:c.G1991A:p.R664H,MFSD6:NM_001375992:exon7:c.G1991A:p.R664H,MFSD6:NM_017694:exon7:c.G1991A:p.R664H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00875229031036	0.0002	.	4.118e-05	0.0004	0	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs139530596	4.788e-06	4.788e-06	4.084e-06	5.5e-06	7.557e-05	1.99e-06	1.28e-06	2.003e-05	1.055e-05	0	2.236e-05	0	7.557e-05	0	0	1.799e-06	0	1.159e-05	3.286e-05	3.284e-05	6.426e-05	0	9.658e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.658e-05	0	0	0	0	0	0	1.47e-05	0	0	0.263	0.16412	T	0.373	0.39340	T	0.044	0.21686	B	0.016	0.17743	B	0.000276	0.46590	N	0.225478	0.913743	0.36481	D	1.1	0.28011	L	1.29	0.35775	T	0.52	0.02853	N	0.083	0.05929	-1.0422	0.16651	T	0.067	0.27674	T	10	0.04608679	0.03756	T	0.008752	0.23099	T	0.035	0.08770	.	.	0.393316636838	0.38940	0.32042140026467375	0.31955	0.517787163206	0.49640	0.461127310991	0.33465	T	0.00927	0.08447	T	-0.389647	0.02705	T	-0.501285	0.22215	T	0.0897717699408531	0.11191	T	0.868313	0.57032	D	0.06536952	0.13964	0.037606496	0.03450	0.06536952	0.13964	0.037606496	0.03450	-3.966	0.23293	T	.	.	0.093	0.13969	B	.;.;.	.;.;.	3.238184	0.44194	21.9	0.99494694944535067	0.67687	0.83098	0.42245	D	AEFDGCIJ	0.242458	0.36391	N	-0.166738083595112	0.34524	1.971671	0.0114463123074618	0.40245	2.398789	0.999945549085844	0.47345	0.740787	0.97801	0	0.724815	0.89359	0	0.767554	0.98243	0	0.668105	0.65232	0	.	.	5.74	4.85	0.62375	2.731000	0.47015	5.910000	0.51009	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.996000	0.76049	0.0737:0.0:0.7822:0.1442	9.175	0.36263	591	0.68823	.;.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2761.33	33	chr2	190497538	.	G	A	2761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=835;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.375;SOR=0.847	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	18	0	1	0
chr2	191416233	191416233	T	C	exonic	MYO1B	.	nonsynonymous SNV	MYO1B:NM_012223:exon28:c.T3104C:p.I1035T,MYO1B:NM_001330237:exon29:c.T3191C:p.I1064T,MYO1B:NM_001330238:exon29:c.T3191C:p.I1064T,MYO1B:NM_001130158:exon30:c.T3278C:p.I1093T,MYO1B:NM_001161819:exon30:c.T3278C:p.I1093T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0230804830968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.041	0.54159	D	0.935	0.52277	P	0.818	0.58969	P	0.000000	0.84330	D	0.000000	0.999967	0.58761	D	2.165	0.60562	M	1.16	0.38073	T	-2.73	0.61722	D	0.857	0.87157	-0.7344	0.58740	T	0.205	0.56321	T	10	0.93489313	0.92822	D	0.02308	0.46020	T	0.364	0.68407	0.846	0.94965	0.324576393752	0.32066	0.7763958575296147	0.77589	1.25182992795	0.81823	0.863419234753	0.91615	D	0.105555	0.41613	T	0.242221	0.77871	D	0.110157	0.77583	D	0.958179496922254	0.65201	D	0.963904	0.89999	D	0.33179238	0.55617	0.45496646	0.68311	0.33179238	0.55617	0.45496646	0.68311	-7.847	0.60029	D	.	.	0.807	0.79148	P	.;.;.;.	.;.;.;.	4.649876	0.74108	26.1	0.99830677497992992	0.91284	0.98170	0.80208	D	AEFBCI	0.912544	0.87332	D	0.653719637476496	0.76610	6.518366	0.646978789277028	0.78386	6.865827	0.99999999727968	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	6.789000	0.74898	7.901000	0.73554	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	14.399	0.66598	528	0.73785	.;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1660.33	34	chr2	191416233	.	T	C	1660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=791;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.211;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	18	0	1	0
chr2	195683744	195683744	A	T	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon3:c.A1054T:p.N352Y,SLC39A10:NM_020342:exon3:c.A1054T:p.N352Y	.	437	1083	2	0	0	2	0.000922509	.	.	.	2350483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0390690779346	0.0002	0.000199681	0.0004	0	0.0009	0	0	0.0004	0	0.0005	0.000304	47	154602	rs143138746	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0040	0.0035	5.978e-05	0.0005	3.829e-05	0	1.875e-05	0.0056	0.0003	0.0005	0.0005	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.623e-05	0	0.0002	0	0	0	0	0.0003	0	0.0002	0.018	0.50676	D	0.051	0.47828	T	0.924	0.51285	P	0.347	0.42698	B	0.000712	0.42254	D	0.290368	0.981696	0.81001	D	0.805	0.20218	L	-0.16	0.65378	T	-2.12	0.48184	N	0.307	0.34659	-0.7660	0.57077	T	0.189	0.53945	T	10	0.064230025	0.08487	T	0.039069	0.58594	D	0.143	0.38195	.	.	0.221890330934	0.21812	0.514636805628982	0.51386	0.56151172001	0.52655	0.3714594841	0.21041	T	0.051	0.28783	T	-0.268244	0.11953	T	-0.255498	0.49272	T	0.0503964448173039	0.05569	T	0.779122	0.41282	T	0.091780335	0.21514	0.13027813	0.31307	0.091780335	0.21514	0.13027813	0.31307	-6.367	0.49252	T	.	.	0.145	0.31857	B	.;.	.;.	3.251273	0.44425	21.9	0.99277971870998827	0.57799	0.80059	0.39800	D	AEFDGBCI	0.408513	0.48016	N	0.283129291783981	0.55293	3.693423	0.310144131095958	0.56136	3.776497	0.999965971965366	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	3.93	0.44666	4.380000	0.59348	4.637000	0.44139	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9252:0.0:0.0748:0.0	10.672	0.44961	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.010101	0.002717	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1413.33	38	chr2	195683744	.	A	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.63;SOR=0.747	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1427,0,1407	18	0	1	0
chr2	195716774	195716774	G	T	exonic	SLC39A10	.	stopgain	SLC39A10:NM_001127257:exon7:c.G1834T:p.G612X,SLC39A10:NM_020342:exon7:c.G1834T:p.G612X	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116508	0.19190	N	0.566576	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.260193	0.98688	40	0.98950982879574245	0.49131	0.88342	0.48226	D	AEFDGBHCI	0.052537	0.09387	N	0.853925515021332	0.89332	9.927986	0.686923639745734	0.81384	7.514351	0.996742287366629	0.34974	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	2.780000	0.47429	11.436000	0.92754	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.519000	0.29452	0.0722:0.0:0.9278:0.0	13.889	0.63231	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5054.33	34	chr2	195716774	.	G	T	5054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.782;DP=922;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.981;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,129:245:99:0|1:195716774_G_T:5068,0,4442:195716774	18	0	1	0
chr2	195716775	195716775	G	C	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon7:c.G1835C:p.G612A,SLC39A10:NM_020342:exon7:c.G1835C:p.G612A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0111975322435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.735	0.05072	T	0.01	0.15535	B	0.012	0.16012	B	0.116508	0.19190	N	0.566576	0.931892	0.27035	N	0.97	0.24054	L	0.0	0.62608	T	-0.06	0.07882	N	0.172	0.18376	-1.0196	0.23845	T	0.111	0.39959	T	10	0.09471136	0.16861	T	0.011198	0.28580	T	0.116	0.32463	0.459	0.52590	0.348910101417	0.34498	0.40400487296317106	0.40316	0.250531978544	0.27623	0.478873312473	0.35902	T	0.01229	0.10825	T	-0.0737665	0.40724	T	-0.343737	0.39922	T	0.145854905247688	0.16768	T	0.810419	0.46176	T	0.033077378	0.03456	0.057170093	0.10345	0.033077378	0.03455	0.057170093	0.10345	-3.696	0.19259	T	.	.	0.077	0.06205	B	.;.	.;.	2.731199	0.35751	19.98	0.52376274267878664	0.04736	0.74009	0.36200	D	AEFDGBHCI	0.103060	0.20659	N	-0.366191612084132	0.26682	1.458042	-0.143364218136419	0.33665	1.928076	0.922592904717809	0.26713	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.169000	0.50509	11.436000	0.92754	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.456000	0.28029	0.0:0.1289:0.6728:0.1982	9.336	0.37213	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5054.33	34	chr2	195716775	.	G	C	5054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=925;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.967;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,129:245:99:0|1:195716774_G_T:5068,0,4442:195716774	18	0	1	0
chr2	195738049	195738049	G	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon65:c.C11947T:p.R3983W	.	432	1075	14	1	0	16	0.00738689	.	.	.	590986	Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation|Abdominal_situs_inversus|Primary_ciliary_dyskinesia|not_provided	MedGen:C5681165,Orphanet:399805|Human_Phenotype_Ontology:HP:0003363,MedGen:C0037221|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.545	.	0.0075	0.00439297	0.0087	0.0017	0.0033	0	0.0123	0.0118	0.01	0.0068	0.0085898	1328	154602	rs114621989	0.0092	0.0092	0.0092	0.0091	0.0100	0.0090	0.0090	0.0099	0.0098	0.0016	0.0041	0.0044	5.039e-05	0.0136	0.0050	0.0100	0.0078	0.0077	0.0072	0.0071	0.0076	0.0067	0.0105	0.0068	0.0067	0.0098	0.0096	0.0016	0.0395	0.0058	0.0040	0.0002	0.0125	0.0034	0.0105	0.0038	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.68	0.99435	H	1.4	0.33630	T	-7.69	0.95603	D	0.955	0.96416	-0.0663	0.80860	T	0.307	0.67759	T	10	0.014028847	0.00296	T	.	.	.	0.545	0.81077	.	.	0.475352637851	0.47162	0.9096751928006794	0.90941	0.237508045894	0.26287	0.696987569332	0.66709	T	0.273031	0.64546	T	-0.0849219	0.38912	T	0.115627	0.77943	D	0.122496466792581	0.14672	T	0.998616	0.99247	D	0.8600765	0.88091	0.82640654	0.89951	0.8600765	0.88093	0.7841544	0.87284	-13.08	0.91789	D	.	.	0.945	0.86403	P	.;.	.;.	4.773758	0.77302	26.7	0.99882093547858575	0.95813	0.75467	0.36951	D	AEFDGBCI	0.728546	0.67653	D	0.655860558299101	0.76749	6.544172	0.441226445923178	0.64155	4.664338	0.999894865939282	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.591603	0.36755	0	.	.	4.51	3.59	0.40253	2.355000	0.43761	3.671000	0.39437	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:0.4753:0.5247	11.010	0.46872	926	0.17793	.;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.000000	0.009511	0.005917	0.000000	0.000000	0.009259	0.007634	0.02632	971.33	34	chr2	195738049	.	G	A	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.626;DP=771;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.29;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr2	195799307	195799307	C	T	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon55:c.G10342A:p.A3448T	.	431	1087	4	0	0	4	0.00183655	.	.	.	2840374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0229851458429	.	0.000399361	9.127e-05	0	0.0003	0	0	6e-05	0	0.0002	8.41e-05	13	154602	rs142989058	5.944e-05	6.293e-05	5.974e-05	5.913e-05	0.0012	4.917e-05	4.53e-05	0.0006	0.0004	9.343e-05	0.0002	0	0	0	0.0012	3.372e-05	0.0001	0.0003	5.913e-05	5.907e-05	5.143e-05	6.718e-05	0.0002	3.077e-05	2.21e-05	5.285e-05	2.835e-05	4.816e-05	0	0.0002	0	0	0	0	4.411e-05	0	0.0002	0.001	0.78490	D	.	.	.	0.987	0.61912	D	0.956	0.69739	D	0.000001	0.84330	D	0.053672	0.999995	0.58761	D	4.13	0.97473	H	2.72	0.11947	T	-3.82	0.71997	D	0.63	0.64393	-0.6340	0.63401	T	0.146	0.47092	T	10	0.59357417	0.66516	D	0.022985	0.45924	T	0.352	0.67326	.	.	0.490282680104	0.48660	0.7441125316055569	0.74357	0.217335507608	0.24254	0.73432469368	0.72138	T	0.239491	0.60762	T	-0.265258	0.12291	T	-0.304543	0.44242	T	0.837090611457825	0.49091	D	0.971503	0.89686	D	0.667124	0.76279	0.7820607	0.87156	0.667124	0.76280	0.7820607	0.87156	-10.089	0.74443	D	.	.	0.787	0.76709	P	.	.	4.024549	0.59468	24.1	0.99889093118862293	0.96359	0.99293	0.94067	D	AEFBI	0.816946	0.73855	D	0.792649395116494	0.85644	8.637776	0.683256056628089	0.81109	7.450252	0.814119489821282	0.24408	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	4.3	0.50540	5.206000	0.65026	3.855000	0.40108	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.1461:0.8539:0.0:0.0	14.723	0.68938	917	0.20147	Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	535.33	34	chr2	195799307	.	C	T	535.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=728;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.613;SOR=1.358	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	18	0	1	0
chr2	195809750	195809755	GCTCAT	-	exonic	DNAH7	.	nonframeshift deletion	DNAH7:NM_018897:exon52:c.9878_9883del:p.H3293_E3294del	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.506e-05	0	0.0017	0.0001811	28	154602	rs767955666	8.826e-05	9.029e-05	4.736e-05	0.0001	0.0015	7.53e-05	7.068e-05	0.0013	0.0012	3.124e-05	0	0	0	0	0.0002	0	1.703e-05	0.0015	4.605e-05	4.598e-05	1.286e-05	8.084e-05	0.0012	2.111e-05	1.528e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.471e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1075.29	34	chr2	195809749	.	CGCTCAT	C	1075.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=676;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.43;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	18	0	1	0
chr2	195957431	195957431	G	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon19:c.C2908G:p.L970V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.718	0.0354250403492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.89	0.96051	H	-0.98	0.75789	T	-2.96	0.61722	D	0.762	0.76019	0.689	0.93040	D	0.723	0.90499	D	10	0.8551353	0.84706	D	0.035425	0.56337	D	0.718	0.90011	0.739	0.87147	0.647723231329	0.64480	0.6184058468727619	0.61773	0.233966516908	0.25932	0.637360215187	0.58189	T	0.485629	0.81245	T	0.199181	0.73815	D	0.0483327	0.73473	D	0.998911142349243	0.95567	D	0.964404	0.86792	D	0.8768079	0.89406	0.840113	0.90846	0.8768079	0.89408	0.840113	0.90846	-10.839	0.78767	D	.	.	0.357	0.57009	A	.	.	4.270642	0.64981	24.8	0.99812925561404175	0.89620	0.98399	0.82379	D	AEFI	0.750030	0.69127	D	0.996059619830168	0.95622	13.79827	0.895641809660521	0.95380	13.56694	0.98513376549831	0.30834	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	4.325000	0.59022	8.556000	0.77547	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0735:0.0:0.9265:0.0	13.087	0.58562	923	0.18507	Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	222.33	33	chr2	195957431	.	G	C	222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.039;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=-1.76;SOR=0.283	GT:AD:DP:GQ:PL	0/0:27,0:27:70:0,70,928	18	0	1	0
chr2	196274090	196274090	C	T	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon14:c.G2101A:p.V701I,HECW2:NM_001348768:exon16:c.G3169A:p.V1057I,HECW2:NM_020760:exon16:c.G3169A:p.V1057I	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	743602	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.301	0.0423978529589	.	.	0.0001	0	8.688e-05	0	0	0	0	0.0007	8.41e-05	13	154602	rs375808221	4.447e-05	4.446e-05	2.314e-05	6.601e-05	0.0008	3.575e-05	3.257e-05	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0008	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.085	0.41074	T	0.994	0.66517	D	0.97	0.72226	D	0.000215	0.47681	D	0.140583	1	0.81001	D	2.08	0.57402	M	-1.89	0.84557	D	-0.2	0.10136	N	0.358	0.39962	0.274	0.87137	D	0.684	0.89080	D	10	0.13611254	0.25897	T	0.042398	0.60441	D	0.301	0.62179	0.168	0.07302	0.584956310741	0.58168	0.18994431902551312	0.18912	0.769564632785	0.64698	0.564721286297	0.47933	T	0.049329	0.28275	T	-0.182652	0.23342	T	-0.0998975	0.63405	T	0.240822289145108	0.22457	T	0.908809	0.67676	D	0.15459196	0.34981	0.09394721	0.22216	0.15459196	0.34981	0.09394721	0.22216	-5.206	0.39003	T	0.27351752399763946	0.36756	0.077	0.17402	B	.;.;.;.	.;.;.;.	3.568102	0.50241	22.9	0.99771647839279798	0.85918	0.92243	0.55265	D	AEFGBCI	0.667695	0.63573	D	0.66177444646864	0.77132	6.616359	0.66927836602036	0.80053	7.214273	0.999999999999999	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.608075	0.38828	0	0.735409	0.98432	0	.	.	5.45	5.45	0.79688	4.580000	0.60654	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.642	0.88043	870	0.31527	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	873.33	33	chr2	196274090	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=716;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.83;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1297	18	0	1	0
chr2	196319544	196319546	CTC	-	exonic	HECW2	.	nonframeshift deletion	HECW2:NM_001304840:exon7:c.276_278del:p.R92del,HECW2:NM_001348768:exon9:c.1344_1346del:p.R448del,HECW2:NM_020760:exon9:c.1344_1346del:p.R448del	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	429	1066	27	0	0	27	0.0125058	.	.	.	717986	not_provided|HECW2-related_disorder|Neurodevelopmental_disorder_with_hypotonia,_seizures,_and_absent_language	MedGen:C3661900|.|MONDO:MONDO:0014995,MedGen:C4310643,OMIM:617268	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0035	0.0005	0.0041	0	0.0083	0.0043	0.0110	0.0010	0.00146	38	26028	rs562760525	0.0029	0.0029	0.0029	0.0029	0.0146	0.0028	0.0028	0.0121	0.0111	0.0007	0.0029	0.0023	2.519e-05	0.0087	0.0146	0.0028	0.0036	0.0012	0.0031	0.0031	0.0030	0.0032	0.0040	0.0029	0.0028	0.0036	0.0034	0.0005	0.0011	0.0039	0.0035	0	0.0089	0.0170	0.0040	0.0038	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.010101	0.013587	0.011696	0.000000	0.025862	0.006098	0.007576	0.02632	2539.29	40	chr2	196319543	.	ACTC	A	2539.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=883;ExcessHet=0;FS=8.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=0.159;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1091	18	0	1	0
chr2	196319673	196319673	G	A	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon7:c.C149T:p.T50I,HECW2:NM_001348768:exon9:c.C1217T:p.T406I,HECW2:NM_020760:exon9:c.C1217T:p.T406I	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	422	1097	3	0	0	3	0.0013655	.	.	.	758755	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	0.00531743535389	0.0002	0.000399361	0.0004	0.0003	0.0029	0	0	8.991e-05	0.0011	6.056e-05	0.0003234	50	154602	rs146190713	0.0001	0.0001	0.0001	0.0001	0.0016	9.94e-05	9.348e-05	0.0013	0.0012	0	0.0016	0.0003	0	0	0.0009	5.216e-05	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.712e-05	0.0004	0.0003	7.216e-05	0	0.0007	0	0	0	0.0034	0.0001	0	0	0.143	0.25355	T	0.183	0.29153	T	0.09	0.25173	B	0.05	0.25278	B	0.147425	0.02935	N	1.559630	0.99861	0.22043	N	0	0.06538	N	1.55	0.29866	T	-0.73	0.20576	N	0.188	0.20528	-0.9829	0.34328	T	0.054	0.22921	T	10	0.010553092	0.00234	T	0.005317	0.13618	T	0.036	0.09122	.	.	0.189391138174	0.18552	0.19328460737389871	0.19246	0.328415424313	0.34954	0.408473283052	0.26245	T	0.027871	0.20317	T	-0.508962	0.00509	T	-0.544398	0.17867	T	0.013516544659252	0.00248	T	0.717528	0.33029	T	0.03895558	0.05288	0.053285174	0.08947	0.043903466	0.06924	0.06548365	0.13277	-4.749	0.33991	T	0.14176157587571106	0.15976	0.137	0.29887	B	.;.;.;.	.;.;.;.	2.524881	0.32633	19.10	0.98924430546576803	0.48620	0.91077	0.52814	D	AEFBI	0.282769	0.39603	N	-0.434979539422903	0.24253	1.308204	-0.266593429998096	0.29205	1.634447	0.995363332345679	0.34087	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.64	3.78	0.42629	2.289000	0.43184	4.403000	0.43254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:0.7015:0.2985	13.241	0.59424	803	0.44167	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1477.33	43	chr2	196319673	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=808;ExcessHet=0;FS=5.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.141;SOR=0.61	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	196666752	196666752	C	T	exonic	CCDC150	.	nonsynonymous SNV	CCDC150:NM_001080539:exon7:c.C796T:p.R266C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.011219957314	.	0.00119808	0.0004	0.0002	0.0001	0	0	5.645e-05	0	0.0021	0.0002652	41	154602	rs574804509	8.363e-05	8.482e-05	6.001e-05	0.0001	0.0009	7.151e-05	6.698e-05	0.0008	0.0007	0.0002	6.787e-05	0	0.0001	0	0.0002	1.441e-05	0.0002	0.0009	0.0001	0.0001	9.013e-05	0.0002	0.0021	8.182e-05	6.736e-05	0.0011	0.0009	0.0001	0	6.557e-05	0	0	0	0	2.942e-05	0	0.0021	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.916	0.65201	D	0.005823	0.32475	N	0.235349	1	0.27750	N	2.38	0.68558	M	1.49	0.31470	T	-3.78	0.71519	D	0.503	0.53532	-0.9852	0.33784	T	0.140	0.45903	T	10	0.0092769265	0.00210	T	0.01122	0.28621	T	0.110	0.31079	0.258	0.20002	0.143124449307	0.13826	0.1223406858630664	0.12161	0.268599254573	0.29375	0.242195427418	0.02991	T	0.107812	0.42033	T	-0.401438	0.02266	T	-0.384792	0.35161	T	0.1011737009035	0.12486	T	0.768323	0.39714	T	0.22734414	0.45432	0.1358286	0.32511	0.22734414	0.45433	0.1358286	0.32510	-8.4	0.63765	D	.	.	0.118	0.24054	B	.	.	2.895572	0.38363	20.7	0.99883447761924848	0.95892	0.27339	0.23250	N	AEFBI	0.137160	0.25806	N	0.152056237753927	0.48909	3.097475	0.0110384428264234	0.40227	2.397352	0.0145001662335106	0.12603	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.53	4.62	0.56946	1.656000	0.36971	1.699000	0.28119	0.599000	0.40250	0.002000	0.15269	0.002000	0.18203	0.021000	0.11733	0.1579:0.8421:0.0:0.0	13.231	0.59372	267	0.89517	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	470.33	34	chr2	196666752	.	C	T	470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=680;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.136;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr2	196892401	196892401	C	T	exonic	PGAP1	.	nonsynonymous SNV	PGAP1:NM_024989:exon9:c.G1034A:p.G345E,PGAP1:NM_001321099:exon10:c.G512A:p.G171E	Mental retardation, autosomal recessive 42, Autosomal recessive	.	.	.	.	.	.	.	0.0047	0.27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.025e-07	8.928e-06	1.616e-06	0	1.062e-06	0	0	.	.	0	0	0	0	0	0	1.062e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.016260	0.28027	N	0.369282	1	0.81001	D	0.345	0.11182	N	.	.	.	-0.47	0.24026	N	0.211	0.33687	-1.0409	0.17041	T	0.067	0.27708	T	9	0.08465713	0.14210	T	0.005824	0.15131	T	0.073	0.21317	0.443	0.49975	0.509053020717	0.50544	0.612476177143206	0.61179	0.252176079985	0.27787	0.615294694901	0.55063	T	0.057274	0.30520	T	-0.0837371	0.39104	T	-0.358059	0.38278	T	0.142413005232811	0.16481	T	0.711829	0.32321	T	0.03891986	0.05276	0.06608482	0.13486	0.03891986	0.05275	0.06608482	0.13485	-3.047	0.10696	T	.	.	0.127	0.27131	B	.;.;.	.;.;.	1.241003	0.16370	12.49	0.5284964686497684	0.04826	0.57952	0.30512	D	AEFBI	0.184920	0.31225	N	-0.704401609202122	0.15897	0.8052829	-0.535060875751496	0.21204	1.145944	2.58577039305788E-4	0.06190	0.651	0.46895	0	0.547309	0.14657	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	4.78	2.93	0.33092	0.968000	0.28955	0.841000	0.22043	-0.240000	0.07525	0.822000	0.30018	0.268000	0.24029	0.984000	0.60418	0.3592:0.6408:0.0:0.0	10.243	0.42503	350	0.85473	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1030.33	36	chr2	196892401	.	C	T	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=724;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.815;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	18	0	1	0
chr2	196990814	196990814	A	G	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001367495:exon28:c.T3091C:p.F1031L,ANKRD44:NM_001367497:exon28:c.T3037C:p.F1013L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17496783	0.32404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59564	0.22108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.60582	A	.	.	2.327280	0.29806	18.24	0.54073269943863167	0.05065	0.81848	0.41171	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999972863413357	0.50053	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.092715	0.02821	0	0.308618	0.35059	5.65	3.27	0.36580	0.786000	0.26505	4.732000	0.44559	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.6691:0.1345:0.0679:0.1285	3.943	0.08831	421	0.81399	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	31.2	3	chr2	196990814	.	A	G	31.2	.	AC=2;AF=0.059;AN=34;DP=76;ExcessHet=0;FS=0;InbreedingCoeff=0.5065;MLEAC=1;MLEAF=0.029;MQ=60;QD=15.6;SOR=0.693	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,182	16	1	0	2
chr2	197409865	197409865	C	T	exonic	SF3B1	.	nonsynonymous SNV	SF3B1:NM_012433:exon7:c.G809A:p.R270Q	Myelodysplastic syndrome, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.00644896034098	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193846732	5.473e-06	5.472e-06	8.167e-06	2.75e-06	2.519e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.568	0.08870	T	0.762	0.43602	P	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-0.6	0.17834	N	0.513	0.54409	-0.9721	0.36755	T	0.110	0.39604	T	9	0.30997863	0.48480	T	0.006449	0.16985	T	0.255	0.56562	0.355	0.35571	0.477794650704	0.47409	0.7546275151382916	0.75409	1.3757722902	0.84659	0.879760444164	0.93928	D	0.184066	0.53661	T	-0.0582134	0.43188	T	-0.139868	0.60130	T	0.477124750614166	0.31792	T	0.954705	0.82752	D	0.14620176	0.33478	0.15289286	0.35952	0.14620176	0.33478	0.15289286	0.35951	-5.221	0.39155	T	.	.	0.135	0.29283	B	.	.	4.736527	0.76341	26.5	0.9987792482192821	0.95491	0.99007	0.89872	D	AEFDBI	0.904868	0.85568	D	0.282270636697575	0.55249	3.689138	0.408461516321125	0.62091	4.418861	0.999999987861622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.816000	0.84708	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.084	0.93177	630	0.65016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1612.33	34	chr2	197409865	.	C	T	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.146;DP=754;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.604;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,22:68:99:.:.:163,0,713:.	1	0	17	1
chr2	197805199	197805199	G	A	exonic	PLCL1	.	nonsynonymous SNV	PLCL1:NM_006226:exon1:c.G100A:p.V34M	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00778754	0	.	.	.	.	.	.	.	0.0025357	66	26028	rs192178250	0.0005	0.0005	0.0006	0.0005	0.0214	0.0005	0.0005	0.0198	0.0192	0.0214	0.0017	0	0	0	0.0003	2.643e-05	0.0017	9.231e-05	0.0049	0.0049	0.0047	0.0051	0.0171	0.0046	0.0045	0.0161	0.0156	0.0171	0	0.0018	0	0	0	0.0034	2.942e-05	0.0024	0.0006	0.229	0.18371	T	0.151	0.32355	T	0.205	0.29827	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	0.29	0.04161	N	0.104	0.08786	-0.9657	0.38073	T	0.003	0.00800	T	8	0.0028840005	0.00046	T	.	.	.	0.019	0.03383	.	.	0.0954503805726	0.09146	0.22882713779542208	0.22797	0.381205266977	0.39485	0.834799110889	0.87298	D	0.03924	0.25119	T	-0.680065	0.00048	T	-0.735363	0.04088	T	0.0712125768283407	0.08820	T	0.421058	0.11199	T	0.02915027	0.02365	0.044088382	0.05634	0.02915027	0.02364	0.044088382	0.05634	-6.489	0.50201	T	.	.	0.144	0.31683	B	.	.	1.233756	0.16288	12.44	0.90499371589837818	0.19756	0.05465	0.11345	N	AEFDBHCI	0.049768	0.08632	N	-0.940331666953462	0.09912	0.4712204	-0.975679341426421	0.10333	0.5197655	0.999956546819232	0.48110	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.492483	0.08430	1	.	.	4.02	0.702	0.17269	0.717000	0.25523	0.622000	0.20140	0.652000	0.53365	0.001000	0.13787	0.525000	0.25331	0.051000	0.15275	0.0:0.4299:0.383:0.1871	6.587	0.21819	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002132	0.000000	0.000000	0.004386	0.000000	0.000000	0.012048	0.000000	0.02632	357.33	21	chr2	197805199	.	G	A	357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=574;ExcessHet=0;FS=6.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=1.85;SOR=2.16	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	18	0	1	0
chr2	199272237	199272237	C	T	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon11:c.G2176A:p.A726T,SATB2:NM_001172517:exon12:c.G2176A:p.A726T,SATB2:NM_015265:exon12:c.G2176A:p.A726T	Glass syndrome, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	450177	Chromosome_2q32-q33_deletion_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	.	0.00239617	0.0012	9.61e-05	0	0	0	0	0	0.0088	0.0010608	164	154602	rs551624897	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	0	0	0	0	0.0005	8.993e-07	0.0004	0.0075	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	2.405e-05	0	0	0	0	0	0	0	0	0.0095	0.307	0.18308	T	0.827	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.040434	0.24059	N	0.405180	1	0.08975	N	0.345	0.11182	N	0.9	0.46028	T	0.02	0.06739	N	0.035	0.08366	-1.0343	0.19078	T	0.039	0.16892	T	10	0.004018724	0.00078	T	.	.	.	0.025	0.05312	0.258	0.20002	0.184605227958	0.18053	0.048395945774403516	0.04782	1.014331219	0.74887	0.274340391159	0.06715	T	0.098205	0.40179	T	-0.70227	0.00035	T	-0.776692	0.02555	T	0.0341003142758401	0.02655	T	0.69773	0.30785	T	0.024098374	0.01209	0.050859954	0.08067	0.02329161	0.01057	0.05186298	0.08432	-4.04	0.24400	T	.	.	0.063	0.01512	B	.;.;.;.;.;.	.;.;.;.;.;.	0.507976	0.08767	5.545	0.81291108516409605	0.13613	0.06611	0.12627	N	AEFBI	0.070131	0.13911	N	-1.40890632763749	0.02560	0.1131995	-1.43116993020324	0.02945	0.1364495	0.0558214240707865	0.15032	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.63	-4.53	0.03217	-0.100000	0.10959	-1.460000	0.05389	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.2308:0.4774:0.2918	8.821	0.34186	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1816.33	34	chr2	199272237	.	C	T	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.16;SOR=0.705	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1830,0,1982	18	0	1	0
chr2	199349123	199349123	G	A	exonic	SATB2	.	nonsynonymous SNV	SATB2:NM_001172509:exon7:c.C751T:p.R251C,SATB2:NM_001172517:exon8:c.C751T:p.R251C,SATB2:NM_015265:exon8:c.C751T:p.R251C	Glass syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3762634	not_specified|Chromosome_2q32-q33_deletion_syndrome	MedGen:CN169374|MONDO:MONDO:0012864,MedGen:C2676739,OMIM:612313,Orphanet:251019	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0155528169832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239435557	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.474e-05	1e-06	7.3e-07	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.089	0.45961	T	1.0	0.90584	D	0.927	0.66185	D	0.000290	0.46274	D	0.143132	0.999922	0.58761	D	1.59	0.40313	L	0.83	0.47815	T	-2.73	0.58085	D	0.397	0.54932	-0.8337	0.53061	T	0.142	0.46275	T	10	0.27505755	0.45062	T	0.015553	0.36344	T	0.251	0.56024	0.318	0.29581	0.423782897388	0.41995	0.4226032196182818	0.42177	1.40020819914	0.85182	0.819907188416	0.85013	D	0.609415	0.87599	D	-0.0566984	0.43423	T	-0.143373	0.59825	T	0.870425939559937	0.52034	D	0.956904	0.83579	D	0.22747228	0.45448	0.17731631	0.40325	0.22747228	0.45448	0.17731631	0.40324	-4.949	0.36281	T	0.2332475592117161	0.31573	0.238	0.56357	B	.;.;.;.;.;.	.;.;.;.;.;.	5.605664	0.92493	32	0.99937819037483189	0.99698	0.98952	0.89087	D	AEFDBIJ	0.771657	0.70622	D	0.300474934812333	0.56173	3.781706	0.450863348283543	0.64771	4.740265	0.999996944624734	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	6.621000	0.74096	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8535:0.1465	14.525	0.67467	807	0.43470	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	35	chr2	199349123	.	G	A	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.113;DP=696;ExcessHet=0;FS=5.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.272;SOR=0.305	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	199925158	199925158	A	T	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A430T:p.N144Y	.	623	894	5	0	0	5	0.00278862	.	.	.	3208070	C2orf69-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.00270416351351	.	0.000399361	0.0006	0	0.0002	0	0	0.0003	0	0.0033	0.0005304	82	154602	rs186306624	0.0004	0.0004	0.0003	0.0006	0.0039	0.0004	0.0004	0.0035	0.0034	0	0.0004	0.0003	0	0	0.0022	0.0002	0.0004	0.0039	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.81e-05	0	0.0002	0.0003	0	0	0	0.0003	0.0019	0.0031	0.065	0.36310	T	0.146	0.32891	T	0.015	0.17086	B	0.034	0.22546	B	0.314658	0.14373	N	0.744629	0.862036	0.28340	N	1.65	0.42232	L	.	.	.	-3.06	0.63090	D	0.18	0.19459	-1.0043	0.28666	T	0.092	0.35119	T	9	0.01052779	0.00234	T	0.002704	0.05550	T	0.025	0.05312	.	.	0.254761474806	0.25079	0.6009532227429295	0.60026	0.505372073468	0.48780	.	.	.	0.037574	0.24526	T	-0.483767	0.00703	T	-0.46978	0.25539	T	0.0200636796739436	0.00707	T	0.687331	0.29630	T	0.07315291	0.16327	0.12000046	0.28962	0.07315291	0.16327	0.12000046	0.28962	-7.246	0.55811	T	.	.	0.120	0.24867	B	.	.	1.894778	0.24068	16.26	0.94473699754494123	0.24923	0.52346	0.29110	D	AEFBI	0.123309	0.23885	N	-0.529049778894993	0.21145	1.120039	-0.459242612195243	0.23286	1.269141	0.00675780374704426	0.11300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	1.2	0.20181	1.067000	0.30227	2.217000	0.31417	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.998000	0.85391	0.5722:0.0:0.292:0.1357	4.510	0.11316	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000532	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1940.33	36	chr2	199925158	.	A	T	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.391;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1326	18	0	1	0
chr2	199925261	199925261	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A533G:p.N178S	.	471	1050	0	1	0	2	0.000951475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.000999559515257	0.0002	0.00139776	0.0006	0.0001	0	0.0075	0	5.997e-05	0	0.0001	0.0005692	88	154602	rs141729817	0.0004	0.0004	0.0004	0.0004	0.0061	0.0003	0.0003	0.0055	0.0053	0	0.0002	3.827e-05	0.0061	0	0.0007	0.0002	0.0006	0.0004	0.0005	0.0005	0.0005	0.0005	0.0069	0.0004	0.0004	0.0052	0.0045	0.0001	0	0.0008	0	0.0069	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.083606	0.20743	N	0.570907	1	0.08975	N	-0.555	0.02337	N	.	.	.	0.31	0.04022	N	0.008	0.00068	-0.9797	0.35071	T	0.011	0.03949	T	9	0.0035810173	0.00065	T	0.001	0.01073	T	0.183	0.45592	.	.	0.112648838833	0.10856	0.17149742620742983	0.17069	0.264940589873	0.29051	.	.	.	3.5E-4	0.00102	T	-0.725109	0.00026	T	-0.80978	0.01670	T	0.00468297175229741	0.00050	T	0.759724	0.38410	T	0.017233592	0.00257	0.03271385	0.02049	0.017233592	0.00256	0.03271385	0.02048	-5.279	0.39734	T	.	.	0.051	0.00161	B	.	.	-1.609213	0.00235	0.004	0.59567612764797295	0.06255	0.04641	0.10310	N	AEFBI	0.034989	0.04429	N	-2.10421203826457	0.00125	0.005368849	-2.05261452712796	0.00236	0.01040418	0.999996343080032	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-12.1	0.00008	-0.309000	0.08185	-2.928000	0.03221	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0986:0.1758:0.7256:0.0	19.027	0.92915	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1052.33	36	chr2	199925261	.	A	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.824;DP=730;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.103;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1326	18	0	1	0
chr2	199925327	199925327	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A599G:p.N200S	.	441	1058	22	1	0	24	0.011215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.0277556	0.0163	0.0014	0.0036	0.0982	0.0127	0.0061	0.0145	0.0339	0.015058	2328	154602	rs150129946	0.0091	0.0091	0.0084	0.0099	0.0775	0.0090	0.0089	0.0752	0.0743	0.0012	0.0036	0.0052	0.0775	0.0126	0.0061	0.0048	0.0125	0.0360	0.0084	0.0084	0.0071	0.0099	0.0907	0.0080	0.0079	0.0839	0.0812	0.0014	0	0.0061	0.0043	0.0907	0.0145	0.0034	0.0043	0.0109	0.0365	0.36	0.11919	T	0.806	0.03993	T	0.016	0.17332	B	0.029	0.21540	B	0.000849	0.41440	D	0.261542	0.72905	0.33699	D	0.69	0.16971	N	.	.	.	-0.79	0.21860	N	0.028	0.00618	-1.0462	0.15476	T	0.005	0.01761	T	9	0.001547128	0.00018	T	.	.	.	0.032	0.07718	.	.	.	.	0.17443525607362523	0.17362	0.282605507449	0.30711	.	.	.	0.002084	0.01490	T	-0.642711	0.00080	T	-0.618509	0.11302	T	0.00639136410793986	0.00071	T	0.752925	0.37500	T	0.03661274	0.04537	0.04759537	0.06891	0.03661274	0.04537	0.04759537	0.06890	-3.096	0.11250	T	.	.	0.091	0.12985	B	.	.	1.962724	0.24933	16.58	0.95025572698175864	0.26014	0.92795	0.56564	D	AEFBI	0.155834	0.28109	N	-0.28007695657649	0.29918	1.663456	-0.0498607988241431	0.37496	2.196231	0.892599707885436	0.25887	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	2.398000	0.44140	7.121000	0.57595	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.988000	0.63387	0.9219:0.0:0.0781:0.0	9.408	0.37636	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006054	0.000000	0.005435	0.005917	0.000000	0.008621	0.012195	0.011364	0.02632	980.33	36	chr2	199925327	.	A	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.56;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1326	18	0	1	0
chr2	200542649	200542649	G	A	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon5:c.G458A:p.R153H,SGO2:NM_001160046:exon5:c.G458A:p.R153H,SGO2:NM_152524:exon5:c.G458A:p.R153H	.	438	1075	9	0	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0219167100076	0.0003	.	0.0005	0.0001	0.0007	0	0	0.0006	0.0022	0.0007	0.0004463	69	154602	rs202174872	0.0005	0.0005	0.0005	0.0005	0.0111	0.0005	0.0005	0.0089	0.0081	0.0007	0.0009	0.0001	5.058e-05	3.76e-05	0.0111	0.0005	0.0009	0.0005	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0007	0	0.0002	0.0002	0.0136	0.0005	0.0014	0	0.395	0.10659	T	0.365	0.23501	T	0.007	0.14184	B	0.008	0.13708	B	0.410707	0.13001	N	0.711977	1	0.08975	N	.	.	.	-0.12	0.64630	T	-0.15	0.09297	N	0.139	0.13769	-1.0354	0.18731	T	0.095	0.35897	T	10	0.014786422	0.00311	T	0.021917	0.44752	T	0.017	0.02790	.	.	0.132336055621	0.12781	0.05282767123021306	0.05224	0.0772625545728	0.08684	0.244033172727	0.03165	T	0.065428	0.32686	T	-0.463051	0.00941	T	-0.494265	0.22945	T	0.000585562892622775	0.00005	T	0.711029	0.32195	T	0.023719769	0.01137	0.02392369	0.00407	0.023719769	0.01136	0.02392369	0.00406	-3.519	0.18045	T	.	.	0.089	0.12084	B	.;.	.;.	1.272505	0.16714	12.72	0.64818093490152506	0.07599	0.02031	0.06090	N	AEFBI	0.035371	0.04540	N	-1.35472306695792	0.03076	0.136848	-1.36474666101775	0.03635	0.1699659	0.17805839117721	0.17832	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.2	-2.24	0.06518	-0.474000	0.06686	-0.176000	0.11179	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.4629:0.1239:0.4132:0.0	6.327	0.20453	593	0.68665	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.010101	0.020380	0.020468	0.000000	0.000000	0.003049	0.000000	0.02632	1925.33	34	chr2	200542649	.	G	A	1925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.528;DP=795;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.806;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	200573308	200573308	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon7:c.A2962G:p.K988E,SGO2:NM_001160046:exon7:c.A2962G:p.K988E,SGO2:NM_152524:exon7:c.A2962G:p.K988E	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00470223672841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464173831	2.752e-06	2.736e-06	4.104e-06	1.384e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.601e-05	0	0	0	0	0	0.0005	9.01e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.009	0.57480	D	0.036	0.52060	D	0.09	0.25173	B	0.112	0.31615	B	0.105402	0.19660	N	0.429759	1	0.08975	N	.	.	.	2.35	0.16217	T	-1.98	0.45769	N	0.124	0.11626	-1.0738	0.08598	T	0.083	0.32440	T	10	0.08888534	0.15346	T	0.004702	0.11691	T	0.048	0.13305	0.221	0.14371	0.223146558224	0.21909	0.045569509805981824	0.04500	0.111268295074	0.12551	0.330388784409	0.14993	T	0.143089	0.47902	T	-0.196829	0.21263	T	-0.520508	0.20243	T	0.387245297431946	0.28460	T	0.534647	0.17878	T	0.1134047	0.26784	0.12923652	0.31079	0.1134047	0.26783	0.12923652	0.31078	-5.226	0.39205	T	.	.	0.115	0.22861	B	.	.	2.611775	0.33921	19.48	0.9927860650548147	0.57834	0.03484	0.08648	N	AEFGBI	0.051265	0.09041	N	-0.299118318163113	0.29182	1.616073	-0.454824259420877	0.23413	1.276635	1.70184242080096E-4	0.05721	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.18	2.76	0.31527	0.952000	0.28747	3.749000	0.39677	0.691000	0.84096	0.001000	0.13787	0.987000	0.30940	0.404000	0.26872	0.7225:0.1842:0.0933:0.0	5.068	0.13928	714	0.56256	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1183.33	40	chr2	200573308	.	A	G	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=904;ExcessHet=0;FS=7.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-1.302;SOR=0.909	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr2	200573530	200573530	A	G	exonic	SGO2	.	nonsynonymous SNV	SGO2:NM_001160033:exon7:c.A3184G:p.I1062V,SGO2:NM_001160046:exon7:c.A3184G:p.I1062V,SGO2:NM_152524:exon7:c.A3184G:p.I1062V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0016650323601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.04521	T	0.952	0.02603	T	0.001	0.07471	B	0.001	0.04355	B	0.453376	0.04827	N	1.344680	1	0.08975	N	.	.	.	2.86	0.10482	T	0.17	0.05125	N	0.058	0.02964	-0.9478	0.41347	T	0.010	0.03811	T	10	0.035767198	0.01842	T	0.001665	0.02728	T	0.009	0.00846	0.209	0.12639	0.126345400529	0.12197	0.008068807138948333	0.00771	0.0538433685987	0.05949	0.268086284399	0.05893	T	0.02894	0.20850	T	-0.322787	0.06672	T	-0.701437	0.05748	T	0.0236224457621574	0.01098	T	0.381062	0.09207	T	0.013451888	0.00059	0.021192081	0.00179	0.013451888	0.00059	0.021192081	0.00179	-3.535	0.16926	T	.	.	0.082	0.08560	B	.	.	-0.435807	0.02082	0.193	0.19023985314785088	0.00624	0.01134	0.04120	N	AEGBI	0.030318	0.03028	N	-1.40080026939734	0.02632	0.1164955	-1.40667043737088	0.03184	0.1480452	5.28670766529688E-4	0.07225	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.16	-4.16	0.03606	0.179000	0.16653	0.090000	0.14504	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.335000	0.25317	0.3536:0.0:0.5043:0.1422	6.722	0.22525	714	0.56256	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2171.33	40	chr2	200573530	.	A	G	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.952;DP=864;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.317;SOR=0.908	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr2	200864129	200864129	G	A	exonic	CLK1	.	nonsynonymous SNV	CLK1:NM_001162407:exon1:c.C98T:p.P33L	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0109111134605	.	0.000798722	0.0011	0	0	0	0	0	0	0.0031	0.0001811	28	154602	rs533474872	0.0002	0.0002	8.322e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0.0004	9.27e-07	0.0003	0.0027	9.846e-05	9.843e-05	7.708e-05	0.0001	0.0031	6.001e-05	4.875e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.102	0.30235	T	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.07	0.63738	T	-0.15	0.09297	N	0.104	0.08786	-1.0599	0.11781	T	0.088	0.34023	T	9	0.003710866	0.00069	T	0.010911	0.27979	T	0.045	0.12272	.	.	0.101711395817	0.09552	0.05086444501505491	0.05028	0.252663030745	0.27833	.	.	.	.	.	.	-0.509637	0.00504	T	-0.508199	0.21501	T	0.0520611932143576	0.05858	T	0.378562	0.09103	T	.	.	.	.	.	.	.	.	-3.353	0.14431	T	.	.	0.106	0.19760	B	.	.	0.342227	0.07159	3.741	0.86528594788807434	0.16597	0.01131	0.04113	N	ALL	0.025861	0.01843	N	-1.54950943791821	0.01538	0.06715565	-1.61243482426466	0.01581	0.0717121	0.999999999954401	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.166054	0.03999	2	0.249971	0.05119	0	.	.	2.28	-2.17	0.06663	0.254000	0.18084	-0.666000	0.07957	-0.483000	0.05064	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4345:0.2114:0.3541:0.0	3.371	0.06801	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2153.33	33	chr2	200864129	.	G	A	2153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=866;ExcessHet=0;FS=0.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.242;SOR=0.718	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr2	201160933	201160933	G	A	exonic	CFLAR	.	nonsynonymous SNV	CFLAR:NM_001202515:exon5:c.G560A:p.R187K,CFLAR:NM_001202516:exon7:c.G1190A:p.R397K,CFLAR:NM_001202518:exon7:c.G1007A:p.R336K,CFLAR:NM_001202517:exon8:c.G1007A:p.R336K,CFLAR:NM_001202519:exon8:c.G1007A:p.R336K,CFLAR:NM_001351593:exon8:c.G1007A:p.R336K,CFLAR:NM_001127183:exon9:c.G1295A:p.R432K,CFLAR:NM_001308042:exon9:c.G1295A:p.R432K,CFLAR:NM_001351590:exon9:c.G1295A:p.R432K,CFLAR:NM_001351594:exon9:c.G1007A:p.R336K,CFLAR:NM_003879:exon9:c.G1295A:p.R432K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00342275112978	.	0.000199681	8.555e-06	0	8.763e-05	0	0	0	0	0	1.29e-05	2	154602	rs566207314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.562e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.892	0.04699	T	1.0	0.02405	T	0.063	0.23376	B	0.016	0.17743	B	0.053183	0.02046	N	2.080600	1	0.08975	N	-0.295	0.03650	N	2.21	0.18414	T	-0.52	0.20791	N	0.059	0.05037	-1.0099	0.26949	T	0.018	0.07518	T	10	0.022605062	0.00569	T	0.003423	0.07694	T	0.010	0.01040	0.449	0.50957	0.273495378476	0.26946	0.11921836544816607	0.11848	0.312835549356	0.33584	0.189612329006	0.00218	T	0.044849	0.26942	T	-0.409527	0.02002	T	-0.743169	0.03759	T	0.0234076575103754	0.01071	T	0.589341	0.23687	T	0.15382072	0.34848	0.07198937	0.15479	0.15382072	0.34848	0.07198937	0.15479	-3.531	0.19437	T	.	.	0.084	0.13315	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.532941	0.09019	5.798	0.71678106310043155	0.09711	0.08471	0.14396	N	AEFBCI	0.069019	0.13641	N	-1.43417232918198	0.02344	0.1034015	-1.41354769727289	0.03116	0.14472	0.940755135023365	0.27446	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.61	-4.0	0.03787	-0.453000	0.06853	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.748000	0.35716	0.4722:0.0:0.3083:0.2196	5.232	0.14749	606	0.67383	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	39	chr2	201160933	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.202;SOR=0.593	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr2	201209363	201209363	A	T	exonic	CASP10	.	nonsynonymous SNV	CASP10:NM_001206524:exon7:c.A1015T:p.I339L,CASP10:NM_001206542:exon7:c.A1087T:p.I363L,CASP10:NM_001230:exon7:c.A1087T:p.I363L,CASP10:NM_032974:exon9:c.A1216T:p.I406L,CASP10:NM_032977:exon9:c.A1216T:p.I406L	Autoimmune lymphoproliferative syndrome, type II, Autosomal dominant;Gastric cancer, somatic;Lymphoma, non-Hodgkin, somatic	0	1513	9	0	0	9	0.0029654	.	.	.	283866	not_provided|Hypomyelination_and_Congenital_Cataract|Autoimmune_lymphoproliferative_syndrome_type_2A	MedGen:C3661900|MONDO:MONDO:0012514,MedGen:C1864663,OMIM:610532,Orphanet:85163|MONDO:MONDO:0011383,MedGen:C1858968,OMIM:603909,Orphanet:3261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	.	0.0026	0.00479233	0.0049	0.0005	0.0010	0	0.0051	0.0044	0.0066	0.0151	0.0046636	721	154602	rs80358239	0.0044	0.0044	0.0040	0.0048	0.0150	0.0043	0.0043	0.0143	0.0140	0.0004	0.0013	0.0019	0	0.0049	0.0036	0.0040	0.0039	0.0150	0.0034	0.0034	0.0034	0.0034	0.0139	0.0031	0.0030	0.0113	0.0103	0.0004	0	0.0014	0.0014	0	0.0039	0	0.0052	0.0028	0.0139	0.144	0.28026	T	0.496	0.22494	T	0.202	0.47796	B	0.228	0.50090	B	0.106479	0.02597	N	1.767010	1	0.08975	N	0.385	0.12166	N	2.29	0.17113	T	-0.96	0.26200	N	0.139	0.25130	-1.0013	0.29545	T	0.027	0.11574	T	10	0.006909907	0.00157	T	.	.	.	0.267	0.58126	0.569	0.69167	0.370424759081	0.36655	0.23218510815205856	0.23133	0.078089185992	0.08789	0.315587550402	0.12752	T	0.034476	0.23338	T	-0.456726	0.01030	T	-0.416508	0.31477	T	0.000736261959413802	0.00007	T	0.765423	0.45334	T	0.11972358	0.28185	0.06245331	0.12222	0.13420628	0.31190	0.072225735	0.15557	-1.242	0.01312	T	0.2821639316482911	0.37763	0.154	0.34383	B	.;.;.;.;.	.;.;.;.;.	0.228888	0.06102	2.548	0.83785163860430634	0.14918	0.22508	0.21770	N	AEFDGBCI	0.092519	0.18731	N	-1.10262030248123	0.06596	0.3041041	-1.15610378063068	0.06659	0.3212677	0.997672082506346	0.35891	0.615465	0.37627	0	0.624146	0.53433	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.97	-0.462	0.11560	-1.204000	0.03127	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5325:0.0:0.3425:0.1249	5.263	0.14899	585	0.69300	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1311.33	37	chr2	201209363	.	A	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=797;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.343;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1325,0,1279	18	0	1	0
chr2	201469980	201469980	C	T	exonic	STRADB	.	nonsynonymous SNV	STRADB:NM_001206864:exon4:c.C121T:p.R41C,STRADB:NM_018571:exon4:c.C121T:p.R41C	.	.	.	.	.	.	.	.	.	.	.	3330873	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0246633213159	.	0.000399361	0.0001	0	0	0	0	0	0	0.0008	9.7e-05	15	154602	rs565091574	5.61e-05	5.678e-05	4.493e-05	6.739e-05	0.0008	4.611e-05	4.237e-05	0.0007	0.0006	2.987e-05	0	0	0	0	0	3.597e-06	9.939e-05	0.0008	1.97e-05	1.969e-05	2.571e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.067	0.44501	T	0.034	0.20480	B	0.003	0.08700	B	0.000675	0.42516	D	0.247202	1	0.08975	N	0	0.06538	N	0.01	0.62918	T	-0.48	0.15379	N	0.096	0.07673	-0.8993	0.48064	T	0.135	0.45049	T	10	0.018655032	0.00408	T	0.024663	0.47647	T	0.106	0.30130	0.34	0.33141	0.0934897674506	0.08844	0.39494961908354703	0.39409	0.996567813786	0.74253	0.257383435965	0.04585	T	0.034843	0.23481	T	-0.393829	0.02541	T	-0.411289	0.32075	T	0.115352342143715	0.13970	T	0.40156	0.10241	T	0.09847948	0.23229	0.08875282	0.20714	0.09847948	0.23229	0.08875282	0.20714	-4.11	0.25730	T	.	.	0.089	0.12181	B	.;.	.;.	2.194357	0.27984	17.65	0.98897701399833737	0.48127	0.27573	0.23315	N	AEFBI	0.288753	0.40057	N	-0.572189002911389	0.19793	1.038692	-0.488541867763473	0.22469	1.220525	0.999617289365011	0.40981	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.683762	0.67416	0	.	.	5.55	5.55	0.83298	2.505000	0.45084	.	.	0.581000	0.30040	0.025000	0.20085	0.387000	0.24645	0.273000	0.23843	0.0:1.0:0.0:0.0	17.674	0.88130	422	0.81333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	37	chr2	201469980	.	C	T	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=720;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.784;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	18	0	1	0
chr2	201492274	201492274	G	A	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.C4067T:p.S1356F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0498141286641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	0.977	0.39309	D	.	.	.	0.0	0.62608	T	-2.91	0.60982	D	0.165	0.17416	-0.8809	0.49689	T	0.146	0.47074	T	9	0.13421261	0.25544	T	0.049814	0.63975	D	0.064	0.18567	0.275	0.22687	0.431931272081	0.42809	0.04933575002135199	0.04876	0.637029871856	0.57456	0.386210799217	0.23134	T	.	.	.	-0.139289	0.30003	T	-0.437856	0.29048	T	0.37457873749791	0.27974	T	0.485951	0.14839	T	.	.	.	.	.	.	.	.	-5.139	0.38315	T	.	.	0.161	0.35519	B	.	.	3.457220	0.48168	22.6	0.98654674389303443	0.44247	0.40596	0.26472	N	AEFBI	0.120457	0.23464	N	-0.313353323741673	0.28639	1.581389	-0.321712996077783	0.27398	1.520029	0.00156107474826205	0.08639	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	4.28	0.50183	2.362000	0.43823	.	.	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.451000	0.27917	0.0876:0.0:0.9124:0.0	10.999	0.46808	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	840.33	33	chr2	201492274	.	G	A	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.31;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr2	201872296	201872296	C	T	exonic	CDK15	.	nonsynonymous SNV	CDK15:NM_001261435:exon11:c.C1028T:p.T343M,CDK15:NM_001261436:exon11:c.C1028T:p.T343M,CDK15:NM_001366386:exon11:c.C1028T:p.T343M,CDK15:NM_139158:exon11:c.C875T:p.T292M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0141996099187	7.7e-05	.	5.766e-05	0	0	0	0	5.994e-05	0	0.0002	4.53e-05	7	154602	rs375122798	3.352e-05	3.352e-05	3.539e-05	3.163e-05	0.0010	2.566e-05	2.312e-05	0.0005	0.0003	5.974e-05	4.472e-05	0.0002	0	3.744e-05	0.0010	1.978e-05	6.623e-05	5.797e-05	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.18e-06	8.2e-07	.	.	2.416e-05	0	0	0.0003	0	0	0	0	0	0	0.057	0.42199	T	0.251	0.39799	T	.	.	.	.	.	.	0.765115	0.06564	N	1.118330	1	0.08975	N	0.875	0.21512	L	0.93	0.44065	T	-0.68	0.19509	N	0.321	0.38129	-0.9963	0.30946	T	0.082	0.32353	T	10	0.09571901	0.17116	T	0.014	0.34156	T	0.041	0.10877	.	.	0.195762928549	0.19159	0.26231965694259957	0.26144	0.0919478431582	0.10381	0.380782008171	0.22367	T	.	.	.	-0.326451	0.06384	T	-0.504047	0.21929	T	0.0516301840543747	0.05784	T	0.761624	0.38671	T	.	.	.	.	.	.	.	.	-5.24	0.41178	T	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	2.577432	0.33407	19.33	0.9623193173344794	0.29122	0.13360	0.17812	N	AEFBI	0.047925	0.08123	N	-0.687370197968248	0.16380	0.8340624	-0.642873313310101	0.18397	0.982579	0.91844617150485	0.26572	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	3.1	0.34780	1.686000	0.37287	.	.	-0.089000	0.16174	0.719000	0.28811	1.000000	0.68203	0.735000	0.35267	0.6552:0.3448:0.0:0.0	9.784	0.39829	116	0.95299	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1355.33	87	chr2	201872296	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1240;ExcessHet=0;FS=2.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.481;SOR=0.672	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	18	0	1	0
chr2	202035234	202035234	G	A	exonic	FZD7	.	nonsynonymous SNV	FZD7:NM_003507:exon1:c.G587A:p.G196E	.	385	1114	22	1	0	24	0.0106572	.	.	.	697252	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.241	.	0.0052	0.00379393	0.0080	0.0015	0.0051	0.0012	0.0029	0.0112	0.0103	0.0069	0.0077877	1204	154602	rs34908164	0.0100	0.0099	0.0100	0.0099	0.0115	0.0098	0.0098	0.0113	0.0112	0.0018	0.0046	0.0025	0.0006	0.0022	0.0056	0.0115	0.0086	0.0078	0.0069	0.0070	0.0074	0.0065	0.0120	0.0066	0.0065	0.0113	0.0111	0.0019	0	0.0052	0.0023	0.0010	0.0012	0.0034	0.0120	0.0109	0.0064	0.152	0.24468	T	0.643	0.06903	T	0.212	0.30008	B	0.05	0.25278	B	0.410093	0.13008	N	0.708385	1	0.08975	N	0.975	0.24501	L	-0.98	0.75789	T	-1.35	0.33598	N	0.291	0.32921	-0.9969	0.30783	T	0.109	0.39344	T	10	0.0064643323	0.00146	T	.	.	.	0.241	0.54641	.	.	0.546911003084	0.54346	0.39633418643055696	0.39548	1.20464397403	0.80653	0.636838555336	0.58116	T	0.325165	0.69591	T	-0.399875	0.02319	T	-0.334845	0.40926	T	0.00461873763491411	0.00049	T	0.59804	0.22252	T	0.11452147	0.27034	0.19855107	0.43694	0.11452147	0.27034	0.19855107	0.43693	-3.449	0.15725	T	.	.	0.099	0.16843	B	.	.	3.053620	0.40982	21.3	0.74618492157724425	0.10763	0.26292	0.22951	N	AEFDBHCI	0.111875	0.22134	N	-0.598175887330292	0.19000	0.9909846	-0.463324773165451	0.23171	1.262298	0.999999797962117	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	4.65	3.73	0.41982	2.304000	0.43315	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1489:0.6981:0.153	9.803	0.39940	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005556	0.000000	0.005435	0.002924	0.000000	0.000000	0.012422	0.007576	0.02632	2379.33	174	chr2	202035234	.	G	A	2379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.531;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1170	18	0	1	0
chr2	202105884	202105884	C	G	exonic	KIAA2012	.	nonsynonymous SNV	KIAA2012:NM_001277372:exon9:c.C1448G:p.A483G,KIAA2012:NM_001367720:exon9:c.C1448G:p.A483G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0042568437677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229689290	2.86e-06	2.736e-06	2.822e-06	2.899e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.393	0.15355	T	.	.	.	.	.	.	0.459829	0.04863	N	1.359360	1	0.08975	N	.	.	.	.	.	.	-1.44	0.35399	N	0.08	0.05542	-1.0519	0.13872	T	0.038	0.16591	T	9	0.039362103	0.02421	T	0.004257	0.10310	T	0.040	0.10527	0.053	0.00123	0.0138822411134	0.00435	0.08468808868590262	0.08402	.	.	0.196388632059	0.00359	T	0.019254	0.15372	T	-0.30207	0.08465	T	-0.671679	0.07500	T	0.0675791885451325	0.08308	T	0.419458	0.11115	T	0.022515297	0.00919	0.033797167	0.02335	0.022515297	0.00919	0.033797167	0.02334	-3.501	0.16445	T	.	.	0.111	0.24363	B	.;.;.	.;.;.	-0.329332	0.02492	0.292	0.91758900528743126	0.21059	0.02586	0.07142	N	AEFDBI	0.054164	0.09825	N	-1.17599411845026	0.05364	0.244359	-1.27990762888901	0.04703	0.2224347	0.128177581183982	0.17035	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.68	-1.73	0.07646	-0.973000	0.03908	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1682:0.3262:0.1777:0.3279	0.623	0.00730	377	0.83897	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1696.33	33	chr2	202105884	.	C	G	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=789;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.49;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C,CARF:NM_001282910:exon4:c.C118T:p.R40C,CARF:NM_001322429:exon4:c.C310T:p.R104C,CARF:NM_001352677:exon4:c.C40T:p.R14C,CARF:NM_001104586:exon5:c.C346T:p.R116C,CARF:NM_001282911:exon5:c.C118T:p.R40C,CARF:NM_001322428:exon5:c.C346T:p.R116C,CARF:NM_001322427:exon6:c.C346T:p.R116C,CARF:NM_024744:exon6:c.C346T:p.R116C	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.016304	0.026316	0.000000	0.034483	0.000000	0.000000	0.02632	1255.33	37	chr2	202952598	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.64;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.788;SOR=0.615	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr2	203133135	203133135	A	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon26:c.A3715G:p.I1239V,NBEAL1:NM_001378026:exon27:c.A3802G:p.I1268V	.	.	.	.	.	.	.	.	.	.	.	781112	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00593198680856	.	0.000599042	0.0009	0	0	0	0	0	0	0.0024	0.0001423	22	154602	rs573346429	0.0001	0.0001	6.319e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	9.869e-06	9.074e-05	0.0021	5.254e-05	5.249e-05	1.285e-05	9.4e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.398	0.10553	T	0.765	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998098	0.22354	N	0.805	0.20218	L	0.54	0.54911	T	-0.25	0.11008	N	0.075	0.04913	-1.0309	0.20163	T	0.078	0.31193	T	9	0.012604207	0.00270	T	0.005932	0.15460	T	0.048	0.13305	0.243	0.17677	0.232513804876	0.22884	0.07795713754506468	0.07731	0.0890324981176	0.10061	0.386472910643	0.23171	T	0.001703	0.01130	T	-0.55795	0.00261	T	-0.579159	0.14620	T	0.0134099099572671	0.00243	T	0.684632	0.29288	T	0.025961433	0.01593	0.040428996	0.04366	0.025961433	0.01593	0.040428996	0.04365	-3.567	0.17381	T	.	.	0.071	0.03736	B	.	.	1.171746	0.15615	11.98	0.80649991644681462	0.13303	0.63873	0.32226	D	AEFGBI	0.052435	0.09358	N	-0.487050858414662	0.22505	1.202123	-0.321333903099037	0.27410	1.520791	6.53553361954207E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.55	2.03	0.25714	2.308000	0.43350	2.683000	0.34031	0.688000	0.82842	0.988000	0.36536	0.962000	0.29361	0.998000	0.85391	0.5756:0.1773:0.2471:0.0	5.139	0.14281	319	0.87030	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	341.33	33	chr2	203133135	.	A	G	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.797;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr2	203145115	203145115	G	A	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon32:c.G5172A:p.M1724I,NBEAL1:NM_001378026:exon33:c.G5259A:p.M1753I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00722304138311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.09374	T	0.521	0.10429	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.044196	0.998235	0.44662	D	0.975	0.24501	L	0.67	0.52187	T	-1.31	0.32791	N	0.436	0.47487	-1.0382	0.17863	T	0.121	0.42036	T	10	0.17471391	0.32365	T	0.007223	0.19143	T	0.073	0.21317	0.429	0.47680	0.292423486923	0.28857	0.31767818265751385	0.31680	0.120949254395	0.13625	0.605539798737	0.53686	T	0.135548	0.46742	T	-0.139427	0.29982	T	-0.438054	0.29026	T	0.427384704351425	0.29964	T	0.832417	0.50060	T	0.29544353	0.52493	0.18352155	0.41346	0.29544353	0.52493	0.18352155	0.41345	-3.201	0.12493	T	.	.	0.499	0.64559	A	.	.	3.222741	0.43917	21.8	0.96159419130363266	0.28893	0.92146	0.55047	D	AEFBI	0.282735	0.39600	N	-0.0193030038630184	0.40981	2.443312	0.165392126195975	0.47964	3.018846	0.00109112677381813	0.08217	0.651	0.46895	0	0.588066	0.40923	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.49	5.49	0.81022	2.105000	0.41449	11.745000	0.95278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1371:0.8629:0.0	15.697	0.77267	313	0.87327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1636.33	36	chr2	203145115	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=740;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.162;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr2	203490048	203490048	T	C	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_001329728:exon4:c.A268G:p.M90V,RAPH1:NM_203365:exon4:c.A268G:p.M90V,RAPH1:NM_213589:exon4:c.A268G:p.M90V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.0455361449858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.32e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.004	0.92824	D	0.969	0.65571	D	0.914	0.75168	D	0.000021	0.62929	D	0.000000	0.999997	0.58761	D	2.455	0.71248	M	0.47	0.56937	T	-3.66	0.72240	D	0.841	0.90476	-0.3382	0.73896	T	0.336	0.70264	T	10	0.69963217	0.78748	D	0.045536	0.62027	D	0.467	0.76222	0.359	0.36222	0.858191669756	0.85682	0.4249930862521477	0.42416	0.812633280634	0.66805	0.820127487183	0.85046	D	0.704097	0.91505	D	0.328703	0.85074	D	0.234382	0.84879	D	0.970324981854689	0.68908	D	0.944306	0.81786	D	0.6570168	0.75739	0.7138539	0.83114	0.6570168	0.75740	0.7138539	0.83115	-10.843	0.80496	D	.	.	0.488	0.70718	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.249554	0.64489	24.7	0.99413752461097515	0.63405	0.99079	0.90917	D	AEFBI	0.928923	0.91389	D	0.734994504210297	0.81926	7.637877	0.735163695440577	0.85045	8.464877	0.999999999822127	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	8.017000	0.88732	7.925000	0.74723	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.705	0.77333	362	0.84826	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1331.33	33	chr2	203490048	.	T	C	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=715;ExcessHet=0;FS=1.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-2.022;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr2	205047664	205047664	G	A	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon4:c.G478A:p.G160S,PARD3B:NM_057177:exon4:c.G478A:p.G160S,PARD3B:NM_152526:exon4:c.G478A:p.G160S,PARD3B:NM_205863:exon4:c.G478A:p.G160S	.	426	1095	1	0	0	1	0.000456413	.	.	.	3364328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0125300679663	0.0003	0.000199681	0.0002	0	0	0	0	0.0004	0	0.0001	0.0001358	21	154602	rs191906362	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0023	0.0019	0	0.0002	0	0	4.058e-05	0.0036	0.0002	0.0002	1.263e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0001	0	0	0	0	0.0004	0	0	0.147	0.30656	T	0.746	0.13832	T	0.9	0.49598	P	0.272	0.39956	B	0.004468	0.33710	N	0.283940	0.824745	0.34828	D	1.89	0.50145	L	3.01	0.10871	T	-0.58	0.20791	N	0.098	0.08088	-1.0628	0.11069	T	0.033	0.13986	T	10	0.07620707	0.11875	T	0.01253	0.31184	T	0.074	0.21613	.	.	0.559923220125	0.55653	0.23624498813528982	0.23539	0.022813631958	0.02307	0.348242104053	0.17662	T	0.002677	0.09523	T	-0.36609	0.03797	T	-0.445567	0.28186	T	0.0576817849455271	0.06799	T	0.828517	0.49290	T	0.098250434	0.23172	0.10952739	0.26399	0.098250434	0.23172	0.10952739	0.26399	-2.91	0.09726	T	.	.	0.068	0.04975	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.957760	0.39377	20.9	0.99205875230648011	0.55442	0.65239	0.32671	D	AEFDGBHCI	0.472284	0.51747	N	0.0588897243893696	0.44552	2.727195	0.210374177806954	0.50423	3.234433	0.999999999613544	0.74766	0.658043	0.49183	0	0.573888	0.26702	0	0.659943	0.59835	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	2.849000	0.47985	3.455000	0.38473	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	16.283	0.82530	891	0.26808	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6290.83	34	chr2	205047664	.	G	A	6290.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.213;DP=2185;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.802;SOR=0.647	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	17	0	2	0
chr2	205401024	205401024	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon18:c.A2435G:p.K812R,PARD3B:NM_152526:exon18:c.A2456G:p.K819R,PARD3B:NM_001302769:exon19:c.A2642G:p.K881R,PARD3B:NM_205863:exon19:c.A2642G:p.K881R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0147362471348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159173231	7.61e-06	8.209e-06	8.231e-06	6.978e-06	0.0016	4.08e-06	2.99e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	3.335e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.21385	T	0.397	0.19131	T	0.997	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	0.627757	0.35566	D	2.67	0.78151	M	1.31	0.35405	T	-0.49	0.17417	N	0.247	0.28849	-0.5377	0.67251	T	0.200	0.55667	T	10	0.23977852	0.41124	T	0.014736	0.35052	T	0.102	0.29158	0.264	0.20946	0.675459934904	0.67270	0.036085109179377725	0.03555	0.17661787198	0.19876	0.511968076229	0.40498	T	0.024778	0.26443	T	-0.0962828	0.37041	T	-0.37608	0.36179	T	0.787106335163116	0.45501	D	0.838916	0.57764	T	0.17971659	0.39056	0.14941572	0.35280	0.17971659	0.39056	0.14941572	0.35279	-5.876	0.46546	T	.	.	0.085	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.054414	0.60118	24.2	0.99756772503418789	0.84694	0.93924	0.59587	D	AEFDI	0.513394	0.54121	D	0.569030307686825	0.71249	5.622129	0.529314811013291	0.69971	5.437131	0.999999588428724	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	3.081000	0.49818	11.173000	0.88038	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	14.043	0.64210	896	0.25515	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	821.33	34	chr2	205401024	.	A	G	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.237;DP=686;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.952;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	18	0	1	0
chr2	205440578	205440578	C	T	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon19:c.C2743T:p.R915W,PARD3B:NM_152526:exon19:c.C2764T:p.R922W,PARD3B:NM_001302769:exon20:c.C2950T:p.R984W	.	.	.	.	.	.	.	.	.	.	.	2400153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0386111732267	0.0002	0.000199681	0.0001	0	0	0	0.0006	0.0001	0	6.058e-05	9.7e-05	15	154602	rs199699507	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	4.472e-05	0	2.52e-05	0.0002	0	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	8.663e-05	7.255e-05	0.0002	9.011e-05	4.814e-05	0	6.537e-05	0	0	0.0002	0	0.0002	0	0.0006	0.031	0.49613	D	0.003	0.76473	D	0.004	0.12183	B	0.0	0.08700	B	0.001173	0.39978	N	0.097227	0.888435	0.81001	D	2.35	0.67516	M	2.59	0.15843	T	-2.21	0.49684	N	0.32	0.41459	-1.1449	0.01185	T	0.071	0.28871	T	10	0.052745968	0.05357	T	0.038611	0.58323	D	0.073	0.21317	.	.	0.520535218364	0.51697	0.14491364225601164	0.14414	0.0227694806356	0.02300	0.487342149019	0.37071	T	0.011674	0.10383	T	-0.336757	0.05616	T	-0.429356	0.30008	T	0.0578938966790491	0.06833	T	0.839416	0.51368	T	0.06373714	0.13451	0.06157522	0.11913	0.06373714	0.13450	0.06157522	0.11912	-6.762	0.52276	T	.	.	0.132	0.33619	B	.;.;.;.;.	.;.;.;.;.	3.464859	0.48308	22.6	0.98419192404310218	0.41266	0.61280	0.31439	D	AEFBCI	0.370276	0.45671	N	-0.280210118558179	0.29914	1.663112	-0.236586020961861	0.30236	1.700696	0.135236847876762	0.17169	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.34	2.48	0.29194	0.783000	0.26463	1.182000	0.24703	-0.249000	0.07183	0.642000	0.28102	0.916000	0.28226	0.884000	0.42379	0.3656:0.568:0.0:0.0664	9.166	0.36216	768	0.49510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1719.33	33	chr2	205440578	.	C	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=773;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.415;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr2	206304824	206304824	A	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A296T:p.D99V,ZDBF2:NM_001369654:exon6:c.A296T:p.D99V,ZDBF2:NM_001285549:exon7:c.A290T:p.D97V	.	427	1082	12	1	0	14	0.00642792	.	.	.	2982334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.059	0.00150610793014	0.0009	0.00139776	0.0018	0	0.0011	0	0	0.0015	0.0022	0.0062	0.0016365	253	154602	rs149317779	0.0013	0.0013	0.0011	0.0015	0.0106	0.0013	0.0013	0.0085	0.0077	8.963e-05	0.0011	3.828e-05	2.519e-05	3.745e-05	0.0106	0.0010	0.0015	0.0075	0.0011	0.0011	0.0011	0.0010	0.0052	0.0009	0.0009	0.0036	0.0031	0.0003	0.0099	0.0012	0.0006	0	0	0.0102	0.0012	0.0033	0.0052	0.085	0.32769	T	0.033	0.53072	D	0.652	0.40767	P	0.113	0.31689	B	0.010663	0.01282	N	3.311150	1	0.08975	N	0.69	0.16971	N	2.29	0.17113	T	-1.64	0.39314	N	0.211	0.23506	-1.0246	0.22214	T	0.026	0.10954	T	10	0.005754322	0.00128	T	0.001506	0.02318	T	0.059	0.16972	.	.	0.209622950755	0.20551	0.039830665300983996	0.03929	0.341368232332	0.36070	0.259487062693	0.04830	T	0.01732	0.29940	T	-0.543983	0.00317	T	-0.550445	0.17284	T	0.0346557185982412	0.02749	T	.	.	.	0.10526064	0.24887	0.046848074	0.06619	0.10526064	0.24887	0.046848074	0.06618	-3.595	0.17785	T	.	.	0.111	0.26010	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.468404	0.08381	5.134	0.75972991080953822	0.11283	0.36710	0.25596	N	AEFBI	0.045790	0.07529	N	-0.832117958751698	0.12494	0.6093761	-0.974997277389136	0.10348	0.5206438	0.0099870363551659	0.11946	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	1.49	1.49	0.21966	-0.250000	0.08849	0.101000	0.14649	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0:0.0:0.0:0.0	4.968	0.13450	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.015152	0.008152	0.005848	0.100000	0.034483	0.006098	0.003788	0.02632	1619.33	34	chr2	206304824	.	A	T	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.029;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr2	206305315	206305315	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C787T:p.R263C,ZDBF2:NM_001369654:exon6:c.C787T:p.R263C,ZDBF2:NM_001285549:exon7:c.C781T:p.R261C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00689105057657	.	.	4.371e-05	0	0	0.0001	0	0	0	0.0003	3.88e-05	6	154602	rs749077567	1.301e-05	1.3e-05	9.539e-06	1.653e-05	0.0002	8.32e-06	6.71e-06	0.0001	9.488e-05	0	0	0	2.521e-05	0	0	1.8e-06	0	0.0002	1.315e-05	1.314e-05	0	2.692e-05	6.556e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.556e-05	0	0	0	0	0	0	0	0.223	0.18757	T	0.09	0.40267	T	0.001	0.07471	B	0.001	0.04355	B	0.043743	0.01924	N	2.387210	1	0.08975	N	-0.425	0.02884	N	2.2	0.18570	T	1.58	0.00668	N	0.042	0.01498	-1.0304	0.20325	T	0.020	0.08313	T	10	0.03088206	0.01218	T	0.006891	0.18233	T	0.026	0.05648	0.315	0.29096	0.0806252709748	0.07271	0.029732379500074544	0.02922	0.286669972311	0.31060	0.154909521341	0.00006	T	7.1E-4	0.00840	T	-0.59275	0.00161	T	-0.793029	0.02082	T	0.040365837699199	0.03756	T	.	.	.	0.03760651	0.04853	0.02099958	0.00167	0.03760651	0.04852	0.02099958	0.00167	-4.598	0.32147	T	.	.	0.081	0.13783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.136209	0.05307	1.801	0.65937486326552408	0.07915	0.00500	0.02358	N	AEFBI	0.022445	0.01122	N	-1.88651903281729	0.00366	0.01572227	-1.98281414364662	0.00333	0.01469636	0.9999998595965	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.92	-9.85	0.00395	-0.957000	0.03971	-2.137000	0.04158	-1.081000	0.01566	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.161:0.2598:0.3379:0.2412	2.064	0.03380	884	0.28482	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2401.33	34	chr2	206305315	.	C	T	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.23;DP=1558;ExcessHet=0;FS=6.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.485;SOR=1.08	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr2	206306587	206306587	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2059T:p.R687C,ZDBF2:NM_001369654:exon6:c.C2059T:p.R687C,ZDBF2:NM_001285549:exon7:c.C2053T:p.R685C	.	426	1086	10	0	0	10	0.00458295	.	.	.	697264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0035	0.00379393	0.0040	0.0009	0.0015	0.0002	0.0006	0.0040	0.0068	0.0107	0.0039844	616	154602	rs192597586	0.0047	0.0047	0.0045	0.0049	0.0095	0.0046	0.0046	0.0090	0.0088	0.0005	0.0021	0.0026	5.039e-05	0.0004	0.0033	0.0050	0.0041	0.0095	0.0030	0.0030	0.0032	0.0027	0.0077	0.0027	0.0026	0.0057	0.0050	0.0007	0.0044	0.0028	0.0040	0	0.0004	0	0.0046	0.0014	0.0077	0.072	0.34982	T	0.03	0.54159	D	0.143	0.27649	B	0.005	0.11217	B	0.204098	0.16527	N	0.460073	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.02	0.07299	N	0.073	0.04668	-1.0676	0.09948	T	0.027	0.11751	T	10	0.004863441	0.00104	T	.	.	.	0.072	0.21020	.	.	0.18995819373	0.18626	0.05791993812508963	0.05732	0.0862770978425	0.09741	0.234137713909	0.02288	T	0.00349	0.09129	T	-0.655254	0.00067	T	-0.706042	0.05501	T	0.0121225805317121	0.00193	T	.	.	.	0.05399236	0.10297	0.033078384	0.02143	0.05399236	0.10296	0.033078384	0.02143	-5.108	0.37991	T	.	.	0.101	0.17742	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.946820	0.13229	9.728	0.92072997945247037	0.21420	0.02386	0.06774	N	AEFBI	0.038963	0.05590	N	-1.07273575931547	0.07149	0.3312424	-1.09082094671271	0.07880	0.3851052	0.117035133085202	0.16792	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.586402	0.36253	0	.	.	4.51	0.754	0.17558	-1.458000	0.02478	-1.114000	0.06289	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1723:0.473:0.1669:0.1877	1.523	0.02367	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1869.33	34	chr2	206306587	.	C	T	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.87;DP=1610;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=3.42;SOR=0.927	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1883,0,1758	18	0	1	0
chr2	206306635	206306635	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2107T:p.R703C,ZDBF2:NM_001369654:exon6:c.C2107T:p.R703C,ZDBF2:NM_001285549:exon7:c.C2101T:p.R701C	.	431	1090	1	0	0	1	0.000458505	.	.	.	2355262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00577191341456	.	0.000399361	7.501e-05	0	0	0.0003	0	0	0.0011	0.0003	7.12e-05	11	154602	rs184921981	5.748e-05	5.746e-05	5.718e-05	5.777e-05	0.0004	4.744e-05	4.367e-05	0.0002	0.0002	0	0.0001	0	0.0004	0	0.0002	2.968e-05	6.627e-05	0.0003	5.256e-05	5.251e-05	5.143e-05	5.374e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0008	0.104	0.29959	T	0.054	0.47097	T	0.143	0.27649	B	0.003	0.08700	B	0.573088	0.05491	N	1.289450	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.22	0.04694	N	0.091	0.06990	-1.0155	0.25175	T	0.045	0.19234	T	10	0.013024062	0.00278	T	0.005772	0.14982	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.05888926746992743	0.05829	0.0915855860622	0.10345	0.240398108959	0.02827	T	0.002163	0.06315	T	-0.513002	0.00483	T	-0.670121	0.07600	T	0.0831001400947571	0.10379	T	.	.	.	0.046945326	0.07941	0.03292648	0.02105	0.046945326	0.07941	0.03292648	0.02104	-2.027	0.03284	T	.	.	0.089	0.13409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.582184	0.09507	6.284	0.80449250645767001	0.13208	0.01486	0.04939	N	AEFBI	0.049274	0.08495	N	-1.66247654391204	0.00984	0.0426325	-1.76124332711768	0.00891	0.03985588	0.99872791527109	0.37539	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.579976	0.35079	0	.	.	4.42	-7.97	0.01007	-0.564000	0.06027	0.009000	0.13411	-0.598000	0.04625	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	0.1956:0.2429:0.5615:0.0	8.868	0.34458	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1735.33	34	chr2	206306635	.	C	T	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=1642;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.579;SOR=0.601	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	18	0	1	0
chr2	206308333	206308333	G	C	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G3805C:p.E1269Q,ZDBF2:NM_001369654:exon6:c.G3805C:p.E1269Q,ZDBF2:NM_001285549:exon7:c.G3799C:p.E1267Q	.	.	.	.	.	.	.	.	.	.	.	2099295	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00957340914372	0.0002	0.000599042	0.0004	0	0.0003	0	0.0002	0.0007	0	6.087e-05	0.0003363	52	154602	rs200401599	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	0.0003	0.0004	0	9.37e-05	0.0016	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	0	0	0.0010	0.0003	0	0	0.0034	0.0003	0.0005	0	0.029	0.45756	D	0.05	0.48080	T	0.816	0.45573	P	0.245	0.38823	B	.	.	.	.	1	0.08975	N	2.51	0.73131	M	0.87	0.46412	T	-0.95	0.25332	N	0.216	0.24135	-1.0307	0.20227	T	0.086	0.33494	T	9	0.01539582	0.00323	T	0.009573	0.25039	T	0.048	0.13305	.	.	0.15556083564	0.15200	0.05877836932939441	0.05818	0.147075874367	0.16591	0.305474549532	0.11222	T	0.008575	0.23230	T	-0.410895	0.01960	T	-0.493849	0.22988	T	0.0364984075277462	0.03069	T	.	.	.	0.06446912	0.13681	0.045912184	0.06281	0.06446912	0.13680	0.045912184	0.06281	-6.711	0.51893	T	.	.	0.134	0.35288	B	.;.;.;.	.;.;.;.	0.416427	0.07869	4.572	0.97659341581278192	0.35189	0.04810	0.10532	N	AEFBI	0.046405	0.07703	N	-0.691015239486307	0.16276	0.8278241	-0.862351121856735	0.12991	0.6714441	1.07555770039288E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.95	-0.967	0.09789	-0.466000	0.06749	0.696000	0.20807	-0.113000	0.14837	0.053000	0.21524	0.993000	0.31925	0.754000	0.35928	0.5327:0.0:0.4673:0.0	7.298	0.25575	896	0.25515	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1704.33	34	chr2	206308333	.	G	C	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=1233;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.52;SOR=0.579	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr2	206311175	206311175	G	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G6647A:p.R2216Q,ZDBF2:NM_001369654:exon6:c.G6647A:p.R2216Q,ZDBF2:NM_001285549:exon7:c.G6641A:p.R2214Q	.	.	.	.	.	.	.	.	.	.	.	2141940	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.00903135175223	0.0008	0.000199681	0.0002	0.0014	8.848e-05	0.0001	0	4.607e-05	0	0	0.0001358	21	154602	rs199913989	5.821e-05	5.814e-05	6.268e-05	5.37e-05	0.0008	4.815e-05	4.436e-05	0.0006	0.0005	0.0008	0.0002	0	2.519e-05	0	0.0002	3.329e-05	0.0001	0	0.0004	0.0004	0.0004	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	6.539e-05	0	0	0	0	2.941e-05	0.0005	0	0.683	0.04391	T	1.0	0.01155	T	0.11	0.26188	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.455	0.12820	N	1.04	0.40218	T	-0.49	0.15578	N	0.032	0.00825	-0.9931	0.31801	T	0.025	0.10509	T	9	0.00885427	0.00200	T	0.009031	0.23774	T	0.020	0.03691	.	.	0.0716867268079	0.06686	0.01527991293841844	0.01483	0.0662787447715	0.07392	0.186038643122	0.00163	T	0.001799	0.09664	T	-0.639194	0.00084	T	-0.731468	0.04261	T	0.00160948908887804	0.00016	T	.	.	.	0.016969927	0.00236	0.033835385	0.02346	0.016969927	0.00235	0.033835385	0.02345	-4.122	0.25614	T	.	.	0.093	0.22861	B	.;.;.	.;.;.	0.291301	0.06675	3.178	0.50756490966493717	0.04440	0.04591	0.10243	N	AEFBHCI	0.030394	0.03052	N	-1.51757840228867	0.01734	0.07591269	-1.46309276587471	0.02653	0.1224337	2.30679412799277E-4	0.06048	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.46	-1.9	0.07248	-0.346000	0.07809	0.048000	0.13961	-0.135000	0.12811	0.002000	0.15269	0.200000	0.23563	0.228000	0.22680	0.511:0.2261:0.2629:0.0	6.739	0.22613	903	0.23940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	34	chr2	206311175	.	G	A	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=916;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.015;SOR=0.831	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	206663253	206663253	-	CC	exonic	DYTN	.	frameshift insertion	DYTN:NM_001093730:exon11:c.1282_1283insGG:p.E428Gfs*61	.	426	1072	21	3	0	27	0.0124367	.	.	.	576096	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0042	0.0003	0.0015	0	0.0009	0.0030	0.0045	0.0167	0.0004226	11	26028	rs534558800	0.0035	0.0035	0.0030	0.0040	0.0180	0.0034	0.0034	0.0173	0.0170	0.0002	0.0010	0.0084	2.519e-05	0.0022	0.0049	0.0026	0.0032	0.0180	0.0024	0.0024	0.0023	0.0024	0.0180	0.0022	0.0021	0.0150	0.0139	0.0006	0	0.0006	0.0052	0	0.0014	0	0.0030	0.0028	0.0180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.02632	2224.29	37	chr2	206663253	.	T	TCC	2224.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=861;ExcessHet=0;FS=6.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.598;SOR=1.25	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	18	0	1	0
chr2	206665968	206665968	C	G	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon10:c.G1042C:p.E348Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00930373434843	.	.	1.658e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775532913	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	0.990019	0.24225	N	2.045	0.56016	M	2.16	0.19166	T	-0.76	0.21215	N	0.275	0.31140	-1.0835	0.06683	T	0.055	0.23375	T	9	0.2451607	0.41760	T	0.009304	0.24413	T	0.090	0.26093	0.238	0.16912	0.0297737177859	0.01360	0.20812569252810936	0.20728	0.139407092502	0.15712	0.382192134857	0.22567	T	0.001838	0.01251	T	-0.198391	0.21036	T	-0.439886	0.28820	T	0.610861778259277	0.36835	D	0.535646	0.17968	T	0.13867933	0.32064	0.18826479	0.42106	0.13867933	0.32064	0.18826479	0.42105	-3.626	0.18233	T	.	.	0.115	0.23113	B	.	.	2.822021	0.37176	20.4	0.99605245807894094	0.74456	0.74477	0.36435	D	AEFI	0.138949	0.26039	N	0.0433833647759958	0.43838	2.669037	0.0220358919958373	0.40740	2.436196	0.0187803558019218	0.13095	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.88	4.01	0.45821	0.664000	0.24749	0.669000	0.20577	0.599000	0.40250	0.988000	0.36536	0.281000	0.24108	0.076000	0.17014	0.0:0.9004:0.0:0.0996	9.052	0.35545	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1814.33	37	chr2	206665968	.	C	G	1814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=800;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.205;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr2	206760904	206760904	C	A	exonic	MDH1B	.	nonsynonymous SNV	MDH1B:NM_001039845:exon2:c.G132T:p.W44C,MDH1B:NM_001282940:exon2:c.G132T:p.W44C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	.	.	0.00199681	0.0014	0	0	0	0	1.502e-05	0	0.0100	0.0011902	184	154602	rs376380517	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	0	0	0	0	0	0.0002	3.652e-06	0.0005	0.0085	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	0	0	0	0	0	0	0	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	N	0.055519	1	0.81001	D	3.07	0.87108	M	0.25	0.59449	T	-11.07	0.99335	D	0.957	0.96758	-0.0273	0.81688	T	0.427	0.77029	T	10	0.026294261	0.00800	T	.	.	.	0.502	0.78475	0.646	0.78330	0.762636210987	0.76047	0.9466555707015513	0.94648	0.656389725194	0.58641	0.607684969902	0.53988	T	0.475022	0.80624	T	-0.0461473	0.45032	T	0.167901	0.81283	D	0.614460468292236	0.36980	D	0.864413	0.56163	D	0.8708294	0.88927	0.8422697	0.90989	0.8708294	0.88928	0.8422697	0.90989	-12.713	0.88168	D	.	.	0.965	0.88666	P	.;.	.;.	5.735303	0.93300	33	0.99234314252932043	0.56342	0.99458	0.96281	D	AEFDGBI	0.912474	0.87316	D	0.780252833665985	0.84855	8.40611	0.728143797440921	0.84515	8.314	0.999999995400968	0.74766	0.549168	0.22868	0	0.59043	0.45803	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.62	4.73	0.59485	7.168000	0.77132	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8709:0.1291:0.0	16.777	0.85415	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	756.33	50	chr2	206760904	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=789;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.228;SOR=0.564	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	207613173	207613173	T	C	exonic	METTL21A	.	nonsynonymous SNV	METTL21A:NM_001127395:exon4:c.A530G:p.Y177C,METTL21A:NM_001330130:exon4:c.A530G:p.Y177C,METTL21A:NM_001330134:exon4:c.A530G:p.Y177C,METTL21A:NM_145280:exon4:c.A530G:p.Y177C,METTL21A:NM_001330137:exon5:c.A584G:p.Y195C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	.	0.0078	0.0101837	0.0023	0.0251	0.0011	0	0	0.0001	0.0033	0	0.002335	361	154602	rs74546744	0.0008	0.0008	0.0009	0.0007	0.0273	0.0008	0.0007	0.0259	0.0253	0.0273	0.0012	0	0	0	0.0019	5.216e-05	0.0018	4.639e-05	0.0066	0.0067	0.0071	0.0062	0.0232	0.0063	0.0062	0.0220	0.0215	0.0232	0	0.0019	0	0	0	0	0.0001	0.0038	0	0.018	0.50676	D	0.039	0.51112	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.675	0.78361	M	2.24	0.17923	T	-4.34	0.79316	D	0.794	0.91505	-1.0288	0.20843	T	0.030	0.13111	T	10	0.009384215	0.00212	T	.	.	.	0.401	0.71479	.	.	0.608522253762	0.60537	0.6934842598315477	0.69289	0.903949664944	0.70762	0.707569956779	0.68241	T	0.055489	0.30020	T	-0.370173	0.03585	T	-0.28625	0.46161	T	0.027878916095944	0.01671	T	0.955704	0.83186	D	0.79629433	0.83670	0.67038846	0.80661	0.79629433	0.83672	0.67038846	0.80661	-13.032	0.89495	D	.	.	0.886	0.81864	P	.;.;.;.;.;.	.;.;.;.;.;.	5.240354	0.87974	29.4	0.99813267101530678	0.89708	0.99740	0.99109	D	AEFBI	0.918598	0.88790	D	0.837900098849827	0.88408	9.567359	0.786819922442525	0.88860	9.74443	0.999999859736415	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.621000	0.82276	7.640000	0.63152	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.0:0.0:1.0	15.516	0.75562	598	0.68232	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.016304	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1878.33	130	chr2	207613173	.	T	C	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=2585;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.868;SOR=0.57	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	18	0	1	0
chr2	207621902	207621902	T	A	exonic	METTL21A	.	nonsynonymous SNV	METTL21A:NM_001127395:exon3:c.A163T:p.T55S,METTL21A:NM_001308021:exon3:c.A163T:p.T55S,METTL21A:NM_001330130:exon3:c.A163T:p.T55S,METTL21A:NM_001330131:exon3:c.A163T:p.T55S,METTL21A:NM_001330132:exon3:c.A163T:p.T55S,METTL21A:NM_001330133:exon3:c.A163T:p.T55S,METTL21A:NM_001330134:exon3:c.A163T:p.T55S,METTL21A:NM_001330135:exon3:c.A163T:p.T55S,METTL21A:NM_001330136:exon3:c.A163T:p.T55S,METTL21A:NM_001330137:exon3:c.A163T:p.T55S,METTL21A:NM_145280:exon3:c.A163T:p.T55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00936244137289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054668047	5.473e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.503	0.07670	T	0.501	0.11153	T	0.073	0.24078	B	0.037	0.29769	B	0.001703	0.38216	N	0.304002	1	0.81001	D	0.865	0.21413	L	0.98	0.42122	T	0.06	0.08187	N	0.274	0.37717	-1.0287	0.20876	T	0.066	0.27121	T	10	0.14929524	0.28257	T	0.009362	0.24553	T	0.018	0.03083	.	.	0.341460817117	0.33762	0.2946763549382778	0.29380	0.244826148591	0.27001	0.383210778236	0.22711	T	0.004078	0.03719	T	-0.221709	0.17761	T	-0.54076	0.18221	T	0.0412933103469645	0.03925	T	0.344566	0.31676	T	0.14242405	0.32776	0.059970174	0.11343	0.14242405	0.32776	0.059970174	0.11342	-8.07	0.63971	D	.	.	0.136	0.29642	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.366214	0.17758	13.35	0.8613972970934104	0.16339	0.76226	0.37369	D	AEFDGBCI	0.308862	0.41532	N	-0.729148402418669	0.15205	0.7642961	-0.693312065432016	0.17127	0.9093147	0.999988654938015	0.51787	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.549297	0.17558	0	.	.	4.08	1.64	0.22949	1.155000	0.31311	0.399000	0.17978	-0.120000	0.14102	1.000000	0.71638	0.967000	0.29559	0.064000	0.16252	0.0:0.2644:0.0:0.7356	8.121	0.30132	565	0.70868	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr2	207621902	.	T	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=758;ExcessHet=0;FS=10.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.061;SOR=1.325	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	18	0	1	0
chr2	207712024	207712024	T	C	exonic	CCNYL1	.	nonsynonymous SNV	CCNYL1:NM_001142300:exon1:c.T128C:p.V43A,CCNYL1:NM_001330218:exon1:c.T128C:p.V43A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.079578759055	.	0.000798722	0.0007	0	0	0	0	0	0	0.0078	0.0001811	28	154602	rs557924804	0.0001	0.0001	6.846e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	9.474e-07	0.0002	0.0022	0.0001	0.0001	5.143e-05	0.0002	0.0041	9.15e-05	7.705e-05	0.0027	0.0023	2.408e-05	0	0	0	0	0	0	0	0	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.849	0.46879	P	0.377	0.43762	B	.	.	.	.	1	0.25826	N	1.87	0.49600	L	1.42	0.33189	T	1.11	0.07736	N	0.145	0.15749	-1.0717	0.09043	T	0.031	0.13242	T	8	0.004886389	0.00104	T	0.079579	0.73267	D	0.035	0.08770	.	.	0.493523153317	0.48987	0.1470991605094765	0.14631	1.01503540728	0.74912	0.902334451675	0.96695	D	0.011237	0.13521	T	-0.562748	0.00244	T	-0.586362	0.13982	T	0.0619955642035982	0.07479	T	0.29847	0.11799	T	0.063795544	0.13469	0.10370718	0.24888	0.063795544	0.13469	0.10370718	0.24888	-2.727	0.07919	T	.	.	0.133	0.28636	B	.;.;.	.;.;.	1.207204	0.16000	12.25	0.59968804360259731	0.06350	0.01358	0.04650	N	ALL	0.013520	0.00182	N	-0.509638637171788	0.21766	1.157605	-0.585221507059758	0.19878	1.068498	0.999999999738866	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.96	2.91	0.32903	0.848000	0.27362	0.322000	0.17195	0.502000	0.22824	0.133000	0.23395	0.776000	0.26740	0.900000	0.43643	0.0:0.4886:0.0:0.5114	4.254	0.10159	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	697.33	35	chr2	207712024	.	T	C	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.292;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.569;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1064	18	0	1	0
chr2	207712062	207712062	G	A	exonic	CCNYL1	.	nonsynonymous SNV	CCNYL1:NM_001142300:exon1:c.G166A:p.G56R,CCNYL1:NM_001330218:exon1:c.G166A:p.G56R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.374159976195	7.7e-05	.	3.984e-05	0	0	0	0	6.787e-05	0	0	1.94e-05	3	154602	rs372198238	1.418e-05	1.779e-05	1.126e-05	1.713e-05	0.0002	9.26e-06	7.53e-06	1.115e-05	8.98e-06	0	0	0	0	0	0.0002	1.743e-05	0	0	1.314e-05	1.312e-05	0	2.686e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.53900	D	0.018	0.59732	D	0.025	0.19245	B	0.013	0.16460	B	0.101554	0.19834	U	0.474569	1	0.81001	D	1.555	0.39373	L	1.38	0.34050	T	-4.21	0.75776	D	0.383	0.43223	-1.0615	0.11385	T	0.048	0.20513	T	9	0.13779256	0.26210	T	0.37416	0.92818	D	0.040	0.10527	0.292	0.25400	0.110392049598	0.10638	0.24685097066375808	0.24599	0.847429405182	0.68384	0.912337124348	0.97686	D	0.069035	0.33608	T	-0.183198	0.23262	T	-0.397984	0.33618	T	0.361268699169159	0.27459	T	0.667933	0.27701	T	0.22137316	0.44713	0.26610968	0.52452	0.22137316	0.44713	0.26610968	0.52451	-4.015	0.25804	T	.	.	0.159	0.35225	B	.;.;.	.;.;.	2.322758	0.29746	18.22	0.99865401720265423	0.94366	0.59957	0.31059	D	ALL	0.188233	0.31551	N	-0.273662507212795	0.30168	1.679698	-0.150207496233299	0.33401	1.910184	0.999999999998679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.67	3.67	0.41236	4.647000	0.61115	2.681000	0.34017	0.511000	0.23309	0.956000	0.33378	0.998000	0.33993	0.875000	0.41745	0.0:0.0:1.0:0.0	12.741	0.56627	658	0.62094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	35	chr2	207712062	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.413;DP=715;ExcessHet=0;FS=4.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.899;SOR=0.518	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1064	18	0	1	0
chr2	208124234	208124234	T	C	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.A130G:p.M44V	Cataract 4, multiple types, Autosomal dominant	2	1500	18	2	0	22	0.00727995	.	.	.	284994	Cataract_4_multiple_types|Aculeiform_cataract|not_provided	MONDO:MONDO:0007281,MedGen:C3540850,OMIM:115700,Orphanet:1377|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00599042	0.0082	0.0054	0.0048	0.0019	0.0084	0.0107	0.0040	0.0057	0.0072509	1121	154602	rs61731517	0.0080	0.0081	0.0080	0.0079	0.0093	0.0078	0.0078	0.0080	0.0080	0.0056	0.0064	0.0237	0.0010	0.0074	0.0093	0.0082	0.0086	0.0051	0.0082	0.0082	0.0081	0.0082	0.0101	0.0078	0.0076	0.0088	0.0083	0.0063	0.0044	0.0101	0.0285	0.0029	0.0081	0.0034	0.0085	0.0090	0.0046	0.37	0.11550	T	1.0	0.01155	T	0.063	0.23376	B	0.105	0.31087	B	0.000000	0.84330	D	0.000000	0.995086	0.42537	D	-0.545	0.02503	N	-0.52	0.70717	T	-1.63	0.39119	N	0.146	0.14763	-0.9761	0.35882	T	0.097	0.36367	T	10	0.00966838	0.00218	T	.	.	.	0.135	0.36572	.	.	0.651456268764	0.64855	0.6244178123042705	0.62374	0.307753395875	0.33067	0.404888302088	0.25748	T	0.199616	0.55695	T	-0.409854	0.01992	T	-0.355248	0.38603	T	0.0163154748330445	0.00402	T	.	.	.	0.6777895	0.76850	0.28431818	0.54430	0.6777895	0.76852	0.28431818	0.54429	-4.081	0.25009	T	.	.	0.169	0.37121	B	.	.	2.841034	0.37485	20.5	0.96681134562736515	0.30701	0.87236	0.46715	D	AEFBI	0.283239	0.39639	N	-0.350088478121713	0.27269	1.49475	-0.167784692447453	0.32730	1.864983	0.991294669232677	0.32439	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	1.336000	0.33455	5.595000	0.49008	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.530	0.49853	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009212	0.010101	0.009511	0.022152	0.000000	0.017544	0.009146	0.015385	0.02632	1125.33	33	chr2	208124234	.	T	C	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.18;MQRankSum=-6.509;QD=14.43;ReadPosRankSum=1.77;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	18	0	1	0
chr2	208314312	208314312	G	A	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon14:c.G1715A:p.R572Q	Corneal fleck dystrophy, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	287351	PIKFYVE-related_disorder|Fleck_corneal_dystrophy|not_provided	.|MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850,Orphanet:98970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0154856276866	0.0013	0.000798722	0.0016	0.0004	0.0005	0	0.0026	0.0023	0	0.0005	0.0016041	248	154602	rs146158348	0.0014	0.0014	0.0014	0.0014	0.0016	0.0014	0.0013	0.0016	0.0015	0.0003	0.0006	0.0002	2.521e-05	0.0017	0.0003	0.0016	0.0013	0.0005	0.0013	0.0013	0.0012	0.0014	0.0023	0.0012	0.0011	0.0020	0.0019	0.0002	0	0.0004	0.0003	0	0.0028	0	0.0023	0.0005	0.0002	0.058	0.37750	T	0.281	0.29442	T	0.999	0.77913	D	0.978	0.74104	D	0.000003	0.62929	D	0.000000	0.999995	0.58761	D	0.805	0.20218	L	1.52	0.30669	T	-0.57	0.17210	N	0.469	0.50508	-1.0242	0.22344	T	0.124	0.42862	T	10	0.021681428	0.00524	T	0.015486	0.36250	T	0.173	0.43840	.	.	0.512526160644	0.50892	0.4013452042221	0.40049	1.03364375487	0.75500	0.73122292757	0.71684	T	0.24319	0.61207	T	-0.34289	0.05191	T	-0.265835	0.48240	T	0.064973664225603	0.07927	T	0.953105	0.85427	D	0.16655943	0.36998	0.10787526	0.25976	0.2313748	0.45908	0.10208825	0.24459	-3.409	0.15177	T	.	.	0.166	0.41341	B	.;.	.;.	5.556154	0.92096	32	0.99941860655455383	0.99824	0.99763	0.99288	D	AEFBI	0.798807	0.72525	D	0.689349067566482	0.78936	6.972759	0.740950411907338	0.85479	8.593069	0.999999999999998	0.74766	0.732398	0.92422	0	0.587265	0.34161	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	9.721000	0.98002	11.871000	0.98575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.626	0.95674	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	339.33	33	chr2	208314312	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=636;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.215;SOR=0.877	GT:AD:DP:GQ:PL	0/1:21,16:37:99:353,0,452	18	0	1	0
chr2	208325402	208325402	A	T	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon20:c.A2591T:p.Y864F	Corneal fleck dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.009911424166	0.0002	0.000199681	4.948e-05	0.0004	8.678e-05	0	0	1.5e-05	0	0	4.53e-05	7	154602	rs147128074	2.941e-05	2.941e-05	3.131e-05	2.75e-05	0.0009	2.216e-05	1.97e-05	0.0007	0.0006	0.0009	4.473e-05	0	0	0	0.0003	1.799e-06	9.935e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	6.535e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000002	0.62929	D	0.000000	0.999999	0.58761	D	1.585	0.39878	L	1.11	0.38883	T	-3.33	0.66206	D	0.59	0.61002	-0.7193	0.59497	T	0.235	0.60148	T	10	0.3010829	0.47652	T	0.009911	0.25811	T	0.310	0.63162	.	.	0.552154753999	0.54872	0.505905391395797	0.50512	0.937855584435	0.72103	0.685110509396	0.65003	T	0.82945	0.95912	D	-0.231707	0.16424	T	-0.206444	0.54035	T	0.399564567369157	0.28925	T	0.974903	0.91072	D	0.6279266	0.74187	0.4273489	0.66483	0.6279266	0.74189	0.4273489	0.66483	-10.313	0.75764	D	.	.	0.333	0.59738	B	.;.	.;.	4.393613	0.67831	25.1	0.98872550759387179	0.47667	0.99391	0.95423	D	AEFBI	0.873276	0.79555	D	0.794263625392438	0.85744	8.668878	0.798939704916221	0.89719	10.09258	0.999999997902098	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	9.246000	0.94587	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.382	0.83303	826	0.39940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	36	chr2	208325402	.	A	T	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.73;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1318	18	0	1	0
chr2	208444824	208444824	C	G	exonic	PTH2R	.	nonsynonymous SNV	PTH2R:NM_001309516:exon7:c.C457G:p.L153V,PTH2R:NM_001371907:exon7:c.C457G:p.L153V,PTH2R:NM_005048:exon7:c.C790G:p.L264V,PTH2R:NM_001371905:exon8:c.C457G:p.L153V,PTH2R:NM_001371906:exon8:c.C457G:p.L153V	.	436	1085	1	0	0	1	0.000460617	.	.	.	3588801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0226104653123	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.059e-05	3.23e-05	5	154602	rs750293004	2.6e-05	2.599e-05	2.178e-05	3.026e-05	0.0019	1.933e-05	1.692e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.619e-05	8.279e-05	4.638e-05	1.971e-05	1.97e-05	3.854e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.001765	0.38052	N	0.000000	0.998787	0.45440	D	2.83	0.82355	M	1.31	0.35405	T	-2.66	0.56945	D	0.763	0.76666	-0.8559	0.51555	T	0.191	0.54301	T	10	0.8672771	0.85977	D	0.02261	0.45515	T	0.379	0.69696	0.766	0.89373	0.152612264143	0.14878	0.7019937263022875	0.70140	0.206822157952	0.23117	0.635895431042	0.57982	T	0.144355	0.71103	T	0.0451108	0.57712	T	0.00731802	0.70809	D	0.818400144577026	0.47653	D	0.951205	0.81406	D	0.7678928	0.81922	0.7231265	0.83649	0.7678928	0.81923	0.7231265	0.83650	-12.273	0.86155	D	0.5153504568402651	0.58846	0.331	0.59964	B	.;.	.;.	3.376498	0.46681	22.3	0.99847095528898977	0.92663	0.86607	0.45923	D	AEFI	0.386200	0.46665	N	0.446858205013534	0.64025	4.648056	0.365482191569399	0.59446	4.122476	1.15814349726873E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	2.57	0.29928	1.788000	0.38346	1.160000	0.24546	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.6155:0.0:0.3845	6.742	0.22628	443	0.79878	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	33	chr2	208444824	.	C	G	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.664;DP=727;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.094;SOR=0.51	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1310	18	0	1	0
chr2	208450802	208450802	G	C	exonic	PTH2R	.	nonsynonymous SNV	PTH2R:NM_001309516:exon8:c.G574C:p.D192H,PTH2R:NM_001371907:exon8:c.G574C:p.D192H,PTH2R:NM_005048:exon8:c.G907C:p.D303H,PTH2R:NM_001371905:exon9:c.G574C:p.D192H,PTH2R:NM_001371906:exon9:c.G574C:p.D192H	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0596253402235	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs201254276	8.278e-05	8.345e-05	6.535e-05	0.0001	0.0005	7.07e-05	6.619e-05	0.0001	7.544e-05	0	8.944e-05	0.0002	0	0	0.0005	9.264e-05	8.28e-05	0	7.879e-05	7.874e-05	0.0001	4.029e-05	0.0001	4.494e-05	3.51e-05	6.804e-05	5.088e-05	2.406e-05	0	6.535e-05	0.0003	0	0	0	0.0001	0	0	0.003	0.68238	D	0.014	0.62352	D	0.961	0.61118	D	0.81	0.64351	P	0.289561	0.14794	N	0.572908	0.999975	0.53665	D	3.045	0.86684	M	1.18	0.37746	T	-4.72	0.79998	D	0.758	0.82862	-0.6541	0.62534	T	0.224	0.58818	T	10	0.6752655	0.70953	D	0.059625	0.67727	D	0.383	0.70029	.	.	0.257292322809	0.25322	0.8045198490595471	0.80405	0.234406508874	0.25976	0.587596833706	0.51155	T	0.081116	0.71849	T	-0.123323	0.32581	T	-0.130208	0.60954	T	0.934759974479675	0.60246	D	0.844715	0.55431	T	0.46239224	0.64819	0.6397587	0.78957	0.46239224	0.64820	0.6397587	0.78958	-13.849	0.92556	D	0.3973369354559582	0.48967	0.741	0.74667	P	.;.	.;.	4.585596	0.72484	25.8	0.99503948911330631	0.68206	0.96814	0.71082	D	AEFI	0.568367	0.57358	D	0.683309298846689	0.78538	6.892069	0.624022339024304	0.76688	6.537436	0.00722943537449644	0.11414	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	4.05	0.46415	5.677000	0.67810	7.285000	0.58036	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.1706:0.0:0.8294:0.0	9.226	0.36566	441	0.80015	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	476.33	34	chr2	208450802	.	G	C	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.35;DP=668;ExcessHet=0;FS=2.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.926;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	18	0	1	0
chr2	210203398	210203398	A	G	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon8:c.T917C:p.M306T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.131174891866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.849e-07	0	1.381e-06	9.031e-07	0	0	.	.	0	0	0	0	0	0	9.031e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.184	0.29056	T	0.863	0.47474	P	0.601	0.50808	P	0.000000	0.84330	D	0.035431	0.999999	0.58761	D	1.555	0.39373	L	-3.82	0.95761	D	-2.55	0.55181	D	0.652	0.66272	0.719	0.93406	D	0.835	0.94468	D	10	0.7906078	0.78627	D	0.131175	0.81340	D	0.781	0.92705	0.693	0.83032	0.973523732714	0.97324	0.81729814341943	0.81686	0.299065426323	0.32277	0.681230187416	0.64445	T	0.88076	0.97499	D	0.292097	0.82328	D	0.182	0.82100	D	0.788304626941681	0.45579	D	0.908709	0.67605	D	0.46967185	0.65269	0.51698613	0.72093	0.46967185	0.65270	0.51698613	0.72093	-12.894	0.88921	D	.	.	0.396	0.59341	A	.	.	4.331457	0.66370	25.0	0.83975082884867935	0.15026	0.93596	0.58651	D	AEFDGBHCI	0.917896	0.88617	D	0.344328750859737	0.58441	4.016344	0.364280247618323	0.59373	4.114521	0.999999882292844	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.43	5.43	0.79006	6.887000	0.75425	9.307000	0.79926	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	15.483	0.75271	708	0.56926	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	35	chr2	210203398	.	A	G	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=687;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.643;SOR=0.915	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr2	210204652	210204652	G	A	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon7:c.C799T:p.R267W	.	1	1509	12	0	0	12	0.0039604	.	.	.	961757	not_provided|Long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0020531,MedGen:C0220711	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.705	0.408641614334	0.0003	0.000199681	0.0006	9.654e-05	0.0004	0.0002	0	0.0006	0.0011	0.0012	0.0005498	85	154602	rs200297060	0.0006	0.0006	0.0006	0.0007	0.0023	0.0006	0.0006	0.0014	0.0014	5.985e-05	0.0004	3.83e-05	5.05e-05	0	0.0023	0.0006	0.0005	0.0017	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0006	0.0006	0.0001	0	0.0004	0	0	9.438e-05	0	0.0008	0	0.0010	0.007	0.59928	D	0.023	0.57104	D	0.239	0.30839	B	0.064	0.27215	B	0.000001	0.84330	D	0.056311	0.999882	0.50402	D	3.13	0.88074	M	-5.66	0.99262	D	-7.24	0.94326	D	0.683	0.68950	0.973	0.96751	D	0.945	0.98215	D	10	0.45657068	0.59026	T	0.408642	0.93551	D	0.705	0.89422	.	.	0.98656492695	0.98641	0.875363944341555	0.87503	0.317858102707	0.34021	0.611904144287	0.54586	T	0.88975	0.97751	D	-0.00712774	0.50666	T	0.186906	0.82392	D	0.225856333971024	0.21753	T	0.931207	0.74412	D	0.5467127	0.69772	0.3989779	0.64473	0.5467127	0.69773	0.3989779	0.64473	-12.897	0.88934	D	.	.	0.113	0.22391	B	.	.	3.807950	0.54910	23.5	0.99285964060629939	0.58078	0.93368	0.58030	D	AEFBI	0.841401	0.75860	D	-0.117231414316774	0.36641	2.120774	-0.0546899957391567	0.37289	2.181241	0.395393702262242	0.20084	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	3.38	0.37806	3.654000	0.54193	3.702000	0.39529	-0.208000	0.08445	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0719:0.0:0.7914:0.1368	10.100	0.41670	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1245.33	33	chr2	210204652	.	G	A	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.182;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr2	210441367	210441367	G	A	exonic	LANCL1	.	nonsynonymous SNV	LANCL1:NM_001136574:exon5:c.C484T:p.L162F,LANCL1:NM_001136575:exon5:c.C484T:p.L162F,LANCL1:NM_006055:exon5:c.C484T:p.L162F	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0810914469866	.	0.000998403	0.0006	9.679e-05	0	0.0082	0	0	0	0	0.0005045	78	154602	rs182044267	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	8.964e-05	0	0	0.0044	0	0	9.898e-06	0.0001	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0069	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0069	0	0	1.47e-05	0	0	0.002	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.77	0.80896	M	0.38	0.57575	T	-3.66	0.70920	D	0.862	0.85872	-0.2616	0.76044	T	0.354	0.71720	T	10	0.015193343	0.00319	T	0.081091	0.73605	D	0.405	0.71791	.	.	0.703346008949	0.70077	0.6669076643601194	0.66628	0.0456225196555	0.04953	0.608413755894	0.54092	T	0.181599	0.53333	T	-0.0480234	0.44747	T	0.165064	0.81113	D	0.159702390360528	0.17850	T	0.968503	0.88585	D	0.79054433	0.83307	0.71478325	0.83167	0.79054433	0.83309	0.71478325	0.83168	-7.052	0.54413	T	.	.	0.642	0.70605	P	.;.;.;.;.;.	.;.;.;.;.;.	5.044393	0.83977	28.2	0.99903546737340521	0.97502	0.98056	0.79226	D	AEFBI	0.564059	0.57100	D	0.791018181170668	0.85539	8.60657	0.725441137403395	0.84309	8.25663	0.226718289017342	0.18418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	3.98	0.45383	6.487000	0.73540	9.790000	0.81641	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1452:0.0:0.8548:0.0	12.286	0.54111	410	0.82135	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	34	chr2	210441367	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=737;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.526;SOR=0.673	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	210441414	210441414	T	G	exonic	LANCL1	.	nonsynonymous SNV	LANCL1:NM_001136574:exon5:c.A437C:p.H146P,LANCL1:NM_001136575:exon5:c.A437C:p.H146P,LANCL1:NM_006055:exon5:c.A437C:p.H146P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	.	0.00239617	0.0008	0	0	0.0101	0	0	0	0.0004	0.0007244	112	154602	rs202027938	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0051	0.0048	0	2.239e-05	0	0.0057	0	0	2.702e-06	0.0006	0.0005	0.0003	0.0003	0.0002	0.0004	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0	0	0.0089	0	0	0	0.0005	0.0006	0.069	0.35537	T	0.144	0.33109	T	0.035	0.20614	B	0.21	0.37304	B	0.002433	0.36574	N	0.301640	0.924063	0.36764	D	-0.695	0.01866	N	1.04	0.40218	T	-0.93	0.28703	N	0.449	0.48689	-1.0311	0.20099	T	0.065	0.27017	T	10	0.005235046	0.00114	T	.	.	.	0.128	0.35103	.	.	0.336892272479	0.33291	0.5837122180996948	0.58300	0.0125326048477	0.01191	0.317235708237	0.13001	T	0.022734	0.17478	T	-0.440333	0.01288	T	-0.397323	0.33696	T	0.0425481195408877	0.04156	T	0.60384	0.23382	T	0.37439483	0.58907	0.16256501	0.37756	0.37439483	0.58908	0.16256501	0.37755	-4.94	0.36182	T	.	.	0.193	0.44029	B	.;.;.;.;.;.	.;.;.;.;.;.	2.407968	0.30945	18.59	0.919595930104667	0.21288	0.67857	0.33586	D	AEFBI	0.466914	0.51436	N	-0.408209505238329	0.25180	1.365034	-0.286538394746271	0.28541	1.592178	0.00212209461673548	0.09174	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	3.43	0.38372	0.476000	0.21890	0.684000	0.20706	0.609000	0.47794	0.275000	0.25094	0.455000	0.24973	0.993000	0.69303	0.0:0.3892:0.0:0.6108	3.296	0.06555	409	0.82198	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	34	chr2	210441414	.	T	G	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=715;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.699;SOR=0.515	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	210648034	210648034	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon26:c.C3313T:p.P1105S,CPS1:NM_001122633:exon27:c.C3313T:p.P1105S,CPS1:NM_001369256:exon27:c.C3346T:p.P1116S,CPS1:NM_001369257:exon28:c.C3313T:p.P1105S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	883654	Congenital_hyperammonemia,_type_I|CPS1-related_disorder|not_provided	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.494	0.0964869829126	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0007	8.41e-05	13	154602	rs761921978	5.678e-05	5.678e-05	4.22e-05	7.151e-05	0.0010	4.677e-05	4.302e-05	0.0006	0.0006	0	0	0	0	0	0.0010	4.497e-06	6.624e-05	0.0008	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.528	0.07093	T	0.643	0.07059	T	0.238	0.30817	B	0.126	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	-4.37	0.97343	D	-0.63	0.28084	N	0.712	0.71498	0.839	0.94896	D	0.885	0.96185	D	10	0.37321413	0.53635	T	0.096487	0.76611	D	0.494	0.77973	0.34	0.33141	0.955078305994	0.95460	0.8493174372997226	0.84893	0.786206304104	0.65525	0.758834838867	0.75756	T	0.584738	0.86456	D	0.0662238	0.60386	T	0.240566	0.85174	D	0.154851795547265	0.17483	T	0.915508	0.69822	D	0.29826957	0.52748	0.21811399	0.46503	0.29826957	0.52748	0.21811399	0.46502	-7.069	0.54537	T	0.21552923449718284	0.28978	0.253	0.49018	B	.;.;.	.;.;.	3.403815	0.47185	22.4	0.97141732595482599	0.32547	0.98567	0.84178	D	AEFBI	0.938033	0.93663	D	0.275486991549162	0.54909	3.655521	0.410444951496737	0.62213	4.43322	0.99999998392425	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	5.809000	0.68843	7.703000	0.66393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.188	0.98226	398	0.82839	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.002725	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1692.83	34	chr2	210648034	.	C	T	1692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.033;DP=737;ExcessHet=0.119;FS=0.657;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.389;SOR=0.628	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1249	17	0	2	0
chr2	214983804	214983804	T	C	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon21:c.A3271G:p.I1091V,ABCA12:NM_173076:exon29:c.A4225G:p.I1409V	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	0	1509	11	2	0	15	0.0049456	.	.	.	287732	not_specified|Congenital_ichthyosis_of_skin|Autosomal_recessive_congenital_ichthyosis_4B|not_provided	MedGen:CN169374|MedGen:C0020758|MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.331	0.0411772193292	0.0062	0.00179712	0.0055	0.0012	0.0046	0	0.0021	0.0079	0.0088	0.0033	0.005401	835	154602	rs149610963	0.0084	0.0084	0.0086	0.0082	0.0097	0.0083	0.0082	0.0096	0.0095	0.0011	0.0049	0.0084	0	0.0015	0.0026	0.0097	0.0092	0.0033	0.0055	0.0055	0.0055	0.0055	0.0087	0.0052	0.0051	0.0081	0.0079	0.0017	0	0.0063	0.0069	0	0.0015	0.0034	0.0087	0.0076	0.0044	0.135	0.26192	T	0.102	0.38450	T	0.248	0.31148	B	0.209	0.37260	B	0.000363	0.45194	D	0.155094	0.736717	0.29775	N	0.575	0.15311	N	-3.32	0.93882	D	-0.79	0.21860	N	0.41	0.45520	-0.0305	0.81620	T	0.572	0.84517	D	10	0.01076436	0.00238	T	0.041177	0.59784	D	0.331	0.65325	.	.	0.802770121755	0.80093	0.687552841180615	0.68695	0.230498149656	0.25597	0.405340313911	0.25811	T	0.404933	0.76126	T	-0.279606	0.10710	T	-0.16773	0.57650	T	0.0196792639094943	0.00671	T	0.846715	0.52677	T	0.16701017	0.37072	0.07205103	0.15499	0.118723884	0.27966	0.07205103	0.15498	-7.374	0.56792	T	0.2953387131833016	0.39227	0.081	0.14108	B	.;.	.;.	3.232890	0.44098	21.9	0.99761482348184538	0.85091	0.95081	0.63368	D	AEFI	0.557885	0.56733	D	-0.0972708774498381	0.37512	2.183457	0.0909943623296094	0.44093	2.697873	0.0338175704230453	0.14124	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.160000	0.64774	4.381000	0.43181	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1305:0.8694	13.494	0.60868	864	0.32732	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.010101	0.006793	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	1496.33	33	chr2	214983804	.	T	C	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=730;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.91;SOR=0.781	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1336	18	0	1	0
chr2	215004271	215004271	A	G	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon12:c.T1667C:p.V556A,ABCA12:NM_173076:exon20:c.T2621C:p.V874A	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0737757777423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05420	T	0.264	0.22761	T	0.969	0.56768	D	0.48	0.47081	P	0.000041	0.55875	D	0.000000	0.534933	0.31460	N	1.5	0.37844	L	-1.84	0.84195	D	-0.64	0.19297	N	0.511	0.54234	-0.2113	0.77380	T	0.475	0.79842	T	10	0.2671188	0.44221	T	0.073776	0.71874	D	0.427	0.73445	0.422	0.46529	0.731822560003	0.72943	0.5922421896407504	0.59154	0.679748189831	0.59947	0.642065525055	0.58858	T	0.083569	0.37085	T	0.0972591	0.63996	D	-0.0980705	0.63546	T	0.838721990585327	0.49223	D	0.744226	0.36418	T	0.09014683	0.21085	0.14701438	0.34808	0.09014683	0.21085	0.14701438	0.34807	-0.708	0.00727	T	0.2770829490521125	0.37176	0.418	0.62922	A	.;.	.;.	3.286235	0.45050	22.1	0.97706179666014847	0.35465	0.89604	0.50175	D	AEI	0.539057	0.55619	D	0.156681409992603	0.49129	3.116763	0.276727194450039	0.54182	3.584134	0.0122947471479882	0.12307	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	4.279000	0.58747	11.253000	0.90812	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.534	0.67535	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2855.33	33	chr2	215004271	.	A	G	2855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=839;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.304;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	215312569	215312569	C	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon2:c.C91A:p.L31M	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0832995436849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.76473	D	0.999	0.77913	D	0.993	0.81110	D	0.000001	0.84330	D	0.000000	0.74087	0.44627	D	3.46	0.92336	M	-2.27	0.87433	D	-1.66	0.39692	N	0.709	0.71232	0.690	0.93047	D	0.808	0.93529	D	10	0.9492437	0.94256	D	0.083	0.74086	D	0.570	0.82516	0.771	0.89767	0.795510299367	0.79361	0.812856599216048	0.81241	0.341759167531	0.36122	0.505860984325	0.39644	T	0.595252	0.86948	D	0.149181	0.69191	D	-0.0234882	0.68799	D	0.927677154541016	0.59067	D	0.905209	0.66592	D	0.9412078	0.95370	0.8144793	0.89185	0.9412078	0.95370	0.8144793	0.89186	-8.018	0.61193	D	0.3935345708451892	0.48638	0.258	0.52235	B	.;.	.;.	3.852242	0.55811	23.7	0.99260256862276641	0.57188	0.56926	0.30243	D	ALL	0.163069	0.28931	N	0.209923511369435	0.51680	3.347337	-0.0191787872003842	0.38849	2.294792	0.999999266391183	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.65	3.84	0.43422	1.112000	0.30786	1.311000	0.25538	0.599000	0.40250	0.639000	0.28076	0.739000	0.26469	0.490000	0.28791	0.0:0.7839:0.0:0.2161	9.774	0.39777	687	0.59234	Methylglyoxal synthase-like domain|Methylglyoxal synthase-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	34	chr2	215312569	.	C	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.106;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1385	18	0	1	0
chr2	215410056	215410056	G	T	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon14:c.C2000A:p.T667N,FN1:NM_001306130:exon14:c.C2000A:p.T667N,FN1:NM_001306131:exon14:c.C2000A:p.T667N,FN1:NM_001306132:exon14:c.C2000A:p.T667N,FN1:NM_001365517:exon14:c.C2000A:p.T667N,FN1:NM_001365518:exon14:c.C2000A:p.T667N,FN1:NM_001365519:exon14:c.C2000A:p.T667N,FN1:NM_001365520:exon14:c.C2000A:p.T667N,FN1:NM_001365521:exon14:c.C2000A:p.T667N,FN1:NM_001365522:exon14:c.C2000A:p.T667N,FN1:NM_001365523:exon14:c.C2000A:p.T667N,FN1:NM_001365524:exon14:c.C2000A:p.T667N,FN1:NM_002026:exon14:c.C2000A:p.T667N,FN1:NM_212474:exon14:c.C2000A:p.T667N,FN1:NM_212476:exon14:c.C2000A:p.T667N,FN1:NM_212478:exon14:c.C2000A:p.T667N,FN1:NM_212482:exon14:c.C2000A:p.T667N	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0444987429189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.76473	D	0.996	0.90584	D	0.944	0.92359	D	0.008503	0.30805	N	0.312951	1	0.81001	D	1.75	0.45442	L	0.15	0.60734	T	-2.72	0.63323	D	0.715	0.75927	-0.5093	0.68312	T	0.300	0.67129	T	10	0.57202095	0.65372	D	0.044499	0.61517	D	0.367	0.68670	0.591	0.71999	0.752927672277	0.75068	0.6022126251577025	0.60152	0.932667358247	0.71902	0.683983564377	0.64841	T	0.446154	0.78890	T	0.0391174	0.56930	T	-0.181587	0.56377	T	0.98185259103775	0.74150	D	0.945705	0.79334	D	0.38546073	0.59708	0.32460907	0.58383	0.38546073	0.59708	0.32460907	0.58382	-8.389	0.63692	D	0.6125378222645659	0.68024	0.199	0.47965	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.393250	0.46987	22.4	0.99341818691889283	0.60210	0.96199	0.67990	D	AEFDBHCIJ	0.916441	0.88264	D	0.554837893980431	0.70379	5.49263	0.515969526272674	0.69063	5.307292	0.999999997396412	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.65	2.88	0.32617	5.843000	0.69141	4.607000	0.44021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2083:0.0:0.7917:0.0	10.478	0.43865	860	0.33753	.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1816.33	33	chr2	215410056	.	G	T	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=767;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.6;SOR=0.587	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	18	0	1	0
chr2	216043924	216043924	G	A	exonic	PECR	.	nonsynonymous SNV	PECR:NM_018441:exon7:c.C806T:p.T269I	.	.	.	.	.	.	.	.	.	.	.	2763327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0214577859428	0.0002	.	0.0001	0	0	0	0	3.022e-05	0	0.0007	8.41e-05	13	154602	rs374888148	4.988e-05	5.269e-05	3.589e-05	6.395e-05	0.0005	4.043e-05	3.715e-05	0.0004	0.0003	0	0	0	0	0	0.0003	2.191e-05	6.695e-05	0.0005	5.257e-05	5.254e-05	5.138e-05	5.381e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.996e-05	0	0	6.549e-05	0	0	0	0	4.409e-05	0.0005	0.0006	0.198	0.20532	T	0.189	0.28575	T	0.003	0.11197	B	0.005	0.11217	B	0.616062	0.10821	N	0.845034	1	0.08975	N	1.845	0.48678	L	-1.73	0.83327	D	-2.05	0.47008	N	0.092	0.07125	-0.8577	0.51427	T	0.321	0.69021	T	10	0.0356566	0.01824	T	0.021458	0.44231	T	0.169	0.43123	.	.	0.746778594565	0.74449	0.5648703444711348	0.56414	0.0559469541111	0.06180	0.32763877511	0.14578	T	0.178852	0.52964	T	-0.314326	0.07372	T	-0.339852	0.40362	T	0.0255997052929348	0.01352	T	0.418758	0.11073	T	0.10692721	0.25284	0.11378268	0.27462	0.10692721	0.25284	0.11378268	0.27461	-3.976	0.23443	T	.	.	0.149	0.32851	B	.	.	-1.464895	0.00316	0.005	0.87199753251639323	0.17058	0.02666	0.07285	N	AEFBI	0.147629	0.27134	N	-1.13707311442394	0.05995	0.2748361	-1.19320304059096	0.06022	0.2886694	0.103770566601848	0.16456	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	-1.62	0.07926	-2.997000	0.00718	-3.918000	0.02453	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2076:0.1919:0.6005	10.569	0.44382	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1178.33	35	chr2	216043924	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=1.46;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	18	0	1	0
chr2	216162028	216162028	A	C	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon16:c.A1814C:p.K605T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0252023044111	.	.	1.648e-05	9.612e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs778076339	2.531e-05	2.531e-05	2.995e-05	2.063e-05	0.0026	1.868e-05	1.631e-05	0.0016	0.0013	5.974e-05	0	0	0	0	0.0026	1.709e-05	0	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-05	2.404e-05	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0.0068	0	0	0	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.047738	0.999996	0.58761	D	2.995	0.85803	M	1.42	0.33189	T	-3.25	0.65283	D	0.612	0.63204	-0.8784	0.49888	T	0.170	0.51052	T	10	0.76536167	0.76662	D	0.025202	0.48177	D	0.239	0.54358	0.652	0.78963	0.165150595986	0.16160	0.620890953980976	0.62022	0.571196979018	0.53256	0.469043344259	0.34548	T	0.399992	0.75768	T	-0.157537	0.27139	T	-0.282539	0.46544	T	0.945148944854736	0.62203	D	0.847515	0.52873	T	0.48307574	0.66086	0.28372982	0.54367	0.48307574	0.66087	0.28372982	0.54366	-7.482	0.57484	T	.	.	0.239	0.47283	B	.;.	.;.	3.649587	0.51790	23.1	0.99816573917533169	0.89973	0.96263	0.68290	D	AEFBI	0.792837	0.72102	D	0.545536219484485	0.69811	5.410313	0.497683097846066	0.67837	5.137697	0.989387945337434	0.31809	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.52	4.37	0.51830	3.828000	0.55453	6.149000	0.54167	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9167:0.0:0.0833:0.0	9.043	0.35489	738	0.53389	Ku, C-terminal;Ku, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	498.33	33	chr2	216162028	.	A	C	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.574;DP=673;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.121;SOR=0.42	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1058	18	0	1	0
chr2	217835109	217835109	T	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon18:c.A2887G:p.S963G,TNS1:NM_001308023:exon19:c.A2887G:p.S963G,TNS1:NM_022648:exon19:c.A2887G:p.S963G	.	425	1080	17	0	0	17	0.00780891	.	.	.	3211380	TNS1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.393	0.106410655065	.	0.000199681	0.0010	0	0	0.0001	0.0002	0.0005	0	0.0049	0.0008861	137	154602	rs201800226	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.362e-05	7.868e-05	0	0	0	0.0025	0.0003	0.0008	0.0043	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	7.215e-05	0	0.0001	0	0	0	0	0.0004	0.0014	0.0027	0.005	0.63226	D	0.089	0.55759	T	0.85	0.61523	P	0.281	0.43650	B	0.967421	0.07756	N	1.015350	0.998821	0.45510	D	2.075	0.57047	M	-3.01	0.92457	D	-1.9	0.44284	N	0.41	0.45047	0.041	0.83074	D	0.644	0.87575	D	10	0.00945285	0.00213	T	0.106411	0.78200	D	0.393	0.70844	.	.	0.778334313524	0.77629	0.3624967717252459	0.36163	0.113200891925	0.12776	0.473637521267	0.35181	T	0.095558	0.39645	T	-0.177945	0.24042	T	-0.0278417	0.68511	D	0.0310361588703694	0.02151	T	0.863614	0.58780	D	0.15090305	0.34331	0.1746471	0.39875	0.15090305	0.34331	0.1746471	0.39875	-6.372	0.49291	T	.	.	0.095	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.306134	0.45409	22.1	0.99562357059714002	0.71831	0.94422	0.61114	D	AEFBI	0.695923	0.65443	D	0.14108985190973	0.48390	3.051922	0.233805037125471	0.51731	3.353321	0.999999015720487	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.196000	0.64973	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.252000	0.23314	0.0:0.0:0.0:1.0	14.375	0.66432	947	0.11584	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003033	0.000000	0.002717	0.000000	0.000000	0.000000	0.018634	0.003788	0.02632	537.33	34	chr2	217835109	.	T	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=679;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.292;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1119	18	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H,TNS1:NM_001308023:exon17:c.A2416C:p.N806H,TNS1:NM_022648:exon17:c.A2416C:p.N806H	.	398	1105	18	1	0	20	0.00896861	.	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.007576	0.02632	1211.33	33	chr2	217847726	.	T	G	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=993;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.186;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	18	0	1	0
chr2	217848163	217848163	-	GCTGCTGCT	exonic	TNS1	.	nonframeshift insertion	TNS1:NM_001308022:exon16:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ,TNS1:NM_001308023:exon17:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ,TNS1:NM_022648:exon17:c.1978_1979insAGCAGCAGC:p.Q659_P660insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0003	0.0001	0	0	4.355e-05	0	0.0120	0.0007633	118	154602	rs780034157	0.0006	0.0006	0.0003	0.0009	0.0090	0.0006	0.0006	0.0085	0.0083	0.0003	4.849e-05	0	8.305e-05	0	0	6.489e-05	0.0007	0.0090	0.0004	0.0004	0.0003	0.0006	0.0108	0.0003	0.0003	0.0085	0.0077	0.0002	0	0.0001	0	0	0	0	1.474e-05	0	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2522.29	33	chr2	217848163	.	G	GGCTGCTGCT	2522.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.279;DP=1472;ExcessHet=0;FS=4.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.73;ReadPosRankSum=-0.146;SOR=1.057	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	18	0	1	0
chr2	218072786	218072786	C	T	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C287T:p.T96I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0430455592828	.	.	0.0002	0	0	0	0	0	0	0.0006	1.94e-05	3	154602	rs199580808	3.2e-05	3.147e-05	2.582e-05	3.836e-05	0.0016	2.426e-05	2.161e-05	0.0008	0.0006	0	2.939e-05	4.094e-05	0	0	0.0016	1.49e-05	5.22e-05	0.0002	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000552	0.43413	D	0.000000	0.939784	0.81001	D	2.865	0.83145	M	2.11	0.19860	T	-5.38	0.85541	D	0.749	0.76481	-0.9074	0.47168	T	0.121	0.42101	T	8	0.9101268	0.90377	D	0.043046	0.60780	D	0.304	0.62510	0.823	0.93527	0.459552425292	0.45580	0.7867754855646095	0.78629	0.229937591646	0.25545	0.581452012062	0.50290	T	0.214118	0.64256	T	-0.0116104	0.50039	T	0.0390331	0.72864	D	0.68072497844696	0.39821	D	0.831217	0.49813	T	0.53888404	0.69334	0.5159955	0.72034	0.53888404	0.69335	0.5159955	0.72035	-11.752	0.83622	D	.	.	0.761	0.75543	P	.;.	.;.	4.365730	0.67173	25.1	0.99857214983433462	0.93639	0.81596	0.40968	D	AEFDBHCI	0.601184	0.59353	D	0.269183150703099	0.54594	3.624605	0.230560274178592	0.51552	3.336685	0.999745949494051	0.42466	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	3.17	0.35510	3.667000	0.54283	5.665000	0.49233	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.964000	0.52637	0.0:0.8238:0.1762:0.0	11.926	0.52107	894	0.26265	RUN domain|RUN domain;RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	42	chr2	218072786	.	C	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.496;DP=779;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.591;SOR=0.587	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1333	18	0	1	0
chr2	218344833	218344833	G	A	exonic	PNKD	.	nonsynonymous SNV	PNKD:NM_022572:exon9:c.G938A:p.R313H,PNKD:NM_015488:exon10:c.G1010A:p.R337H	Paroxysmal nonkinesigenic dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	190882	not_provided|Paroxysmal_nonkinesigenic_dyskinesia_1|Paroxysmal_nonkinesigenic_dyskinesia	MedGen:C3661900|MONDO:MONDO:0700089,MedGen:C4551506,OMIM:118800,Orphanet:98810|MONDO:MONDO:0700088,MedGen:C1869117,Orphanet:98810	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.489	0.219375644293	7.7e-05	.	4.954e-05	0	0	0	0	3.006e-05	0	0.0002	4.53e-05	7	154602	rs374137801	3.352e-05	3.352e-05	2.451e-05	4.263e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	3.312e-05	0.0003	3.286e-05	3.283e-05	2.57e-05	4.036e-05	4.825e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.825e-05	0	0	0	0	0	0	4.412e-05	0	0	0.045	0.61437	D	0.06	0.50514	T	0.99	0.63424	D	0.353	0.49411	B	0.001596	0.38554	N	0.210963	0.882808	0.35786	D	2.07	0.56829	M	-3.94	0.96143	D	-2.33	0.54382	N	0.199	0.44187	0.660	0.92675	D	0.801	0.93266	D	10	0.33150783	0.50372	T	0.219376	0.87705	D	0.489	0.77656	.	.	0.940734887063	0.94012	0.3135816166384723	0.31271	0.3598936142	0.37679	0.511857032776	0.40482	T	0.691061	0.91018	D	-0.0936035	0.37480	T	-0.0359722	0.67971	D	0.282990902662277	0.24297	T	0.958704	0.85218	D	0.06281793	0.13162	0.06394471	0.12744	0.06281793	0.13162	0.06394471	0.12743	-9.231	0.69437	D	0.3440177595277742	0.44161	0.146	0.32275	B	.;.;.	.;.;.	4.781959	0.77512	26.7	0.9983008280426614	0.91198	0.66547	0.33116	D	AEFDBI	0.277606	0.39208	N	0.447077044629788	0.64037	4.649532	0.447119891374819	0.64530	4.710521	0.991964759187964	0.32671	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.81	3.79	0.42757	4.568000	0.60573	8.333000	0.76982	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3626:0.0:0.6374:0.0	3.742	0.08059	785	0.46916	Hydroxyacylglutathione hydrolase, C-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1178.33	41	chr2	218344833	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=892;ExcessHet=0;FS=4.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.16;SOR=1.179	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr2	218387204	218387204	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon6:c.T545C:p.F182S	.	.	.	.	.	.	.	.	.	.	.	2215175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.664	0.159595919975	7.7e-05	0.000199681	2.49e-05	0	0	0	0	4.516e-05	0	0	3.23e-05	5	154602	rs145226482	3.626e-05	3.625e-05	3.404e-05	3.851e-05	0.0029	2.828e-05	2.565e-05	0.0019	0.0015	2.987e-05	2.237e-05	0	0	0	0.0029	2.338e-05	8.279e-05	3.479e-05	2.626e-05	2.624e-05	2.569e-05	2.685e-05	6.534e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.534e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.984	0.76113	D	0.000241	0.46924	D	0.149958	0.999979	0.53665	D	3.37	0.91327	M	-0.54	0.70950	T	-7.1	0.93974	D	0.784	0.78072	0.409	0.89227	D	0.603	0.85894	D	10	0.91852593	0.91210	D	0.159596	0.83977	D	0.664	0.87479	.	.	0.895091469945	0.89405	0.8642807266137608	0.86392	0.69926860194	0.61024	0.610577464104	0.54397	T	0.841738	0.96315	D	0.145057	0.68803	D	0.126954	0.78693	D	0.972899496555328	0.69878	D	0.975102	0.91204	D	0.96442485	0.97722	0.9711722	0.99514	0.96442485	0.97722	0.9711722	0.99515	-12.879	0.88859	D	.	.	0.536	0.66203	A	.	.	5.235419	0.87887	29.4	0.99852334490757477	0.93191	0.95979	0.66988	D	AEFGBCI	0.956770	0.97552	D	0.698502381194811	0.79534	7.097925	0.59426192279721	0.74526	6.152284	0.999999999997553	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.526665	0.08891	0	.	.	5.18	5.18	0.71140	7.699000	0.83526	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	15.208	0.72882	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	797.33	33	chr2	218387204	.	T	C	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.656;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.296;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	18	0	1	0
chr2	218394133	218394133	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon13:c.T1328C:p.V443A	.	414	1080	27	1	0	29	0.0132481	.	.	.	708030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0075	0.00698882	0.0085	0.0020	0.0058	0.0050	0.0049	0.0108	0.0099	0.0083	0.0085251	1318	154602	rs17215556	0.0094	0.0094	0.0093	0.0094	0.0106	0.0092	0.0092	0.0104	0.0104	0.0011	0.0058	0.0002	0.0032	0.0054	0.0090	0.0106	0.0076	0.0077	0.0071	0.0071	0.0076	0.0065	0.0110	0.0067	0.0066	0.0103	0.0101	0.0020	0	0.0088	0	0.0033	0.0037	0.0068	0.0110	0.0080	0.0068	0.121	0.27783	T	0.122	0.35710	T	0.008	0.14655	B	0.088	0.29688	B	0.003390	0.35013	N	0.198663	0.99986	0.50061	D	2.135	0.59519	M	-0.52	0.70717	T	-1.36	0.33798	N	0.658	0.66787	-0.7510	0.57883	T	0.196	0.55056	T	10	0.013764232	0.00291	T	.	.	.	0.172	0.43662	.	.	0.79161799632	0.78968	0.5413373954947179	0.54058	0.566308058926	0.52931	0.53330373764	0.43500	T	0.351936	0.71944	T	-0.397229	0.02414	T	-0.333974	0.41026	T	0.0189439310259744	0.00604	T	0.514149	0.16548	T	0.20398343	0.42493	0.18141866	0.41004	0.20398343	0.42493	0.18141866	0.41003	-6.288	0.48627	T	.	.	0.405	0.59854	A	.	.	3.573429	0.50344	22.9	0.98931554381899145	0.48750	0.91526	0.53715	D	AEFDGBHCI	0.792517	0.72079	D	-0.0848950177941772	0.38055	2.223034	0.0591517357268589	0.42515	2.572918	1.0	0.98316	0.616025	0.39624	0	0.574621	0.32753	0	0.607795	0.38427	0	0.604944	0.38103	0	.	.	4.86	4.86	0.62624	5.829000	0.69007	6.049000	0.53076	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0:0.0:0.0:1.0	14.312	0.65975	936	0.14734	.	.	.	.	.	rs17215556	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.001359	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	1664.33	34	chr2	218394133	.	T	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.02;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1341	18	0	1	0
chr2	218394727	218394727	C	T	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon14:c.C1484T:p.A495V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00607828459304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.586	0.08332	T	0.012	0.16265	B	0.009	0.14300	B	0.010127	0.30054	N	0.277119	0.999037	0.21690	N	1.53	0.38800	L	1.93	0.22881	T	-0.46	0.14978	N	0.217	0.24260	-1.0540	0.13305	T	0.047	0.20275	T	10	0.15218222	0.28750	T	0.006078	0.15905	T	0.042	0.11227	0.297	0.26202	0.541920164434	0.53844	0.20275836299086267	0.20192	0.124157417918	0.13980	0.410348266363	0.26505	T	0.167571	0.51425	T	-0.24678	0.14496	T	-0.592259	0.13471	T	0.474195420742035	0.31685	T	0.782222	0.41780	T	0.10893762	0.25756	0.0866153	0.20078	0.10893762	0.25756	0.0866153	0.20077	-4.196	0.26694	T	.	.	0.071	0.03849	B	.	.	2.579183	0.33439	19.34	0.97363287827631384	0.33583	0.27801	0.23378	N	AEFDBCI	0.187744	0.31504	N	-0.317006627363927	0.28502	1.572619	-0.184291381509033	0.32112	1.823812	0.999991323017868	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.74	3.82	0.43153	0.542000	0.22930	3.271000	0.37160	0.524000	0.24156	0.655000	0.28216	1.000000	0.68203	0.924000	0.46004	0.1219:0.648:0.2301:0.0	9.849	0.40212	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5232.81	167	chr2	218394727	.	C	T	5232.81	.	AC=2;AF=0.053;AN=38;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.33;SOR=0.729	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chr2	218429401	218429401	C	A	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon7:c.C684A:p.H228Q	Cholestasis, progressive canalicular (1)	416	1081	24	1	0	26	0.011883	.	.	.	366181	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0065	0.00239617	0.0071	0.0011	0.0102	0	0.0059	0.0094	0.0144	0.0032	0.0068369	1057	154602	rs148353573	0.0066	0.0066	0.0066	0.0065	0.0149	0.0065	0.0064	0.0124	0.0114	0.0012	0.0081	0.0257	2.519e-05	0.0065	0.0149	0.0066	0.0075	0.0032	0.0060	0.0060	0.0062	0.0058	0.0080	0.0057	0.0056	0.0074	0.0072	0.0011	0.0154	0.0078	0.0306	0	0.0057	0.0170	0.0080	0.0062	0.0027	0.633	0.05106	T	0.614	0.07592	T	0.001	0.07471	B	0.005	0.11217	B	0.000160	0.49130	D	0.137540	0.952916	0.58761	D	1.15	0.29295	L	1.58	0.29085	T	0.76	0.01978	N	0.224	0.35301	-1.0330	0.19490	T	0.025	0.10733	T	10	0.005089283	0.00110	T	.	.	.	0.051	0.14325	0.331	0.31681	0.171388866994	0.16791	0.15647472865071707	0.15568	0.189111939812	0.21227	0.356495201588	0.18874	T	0.075743	0.35250	T	-0.6343	0.00090	T	-0.67451	0.07322	T	0.000438966105577135	0.00004	T	0.684232	0.29249	T	0.044937074	0.07269	0.043821502	0.05540	0.044937074	0.07268	0.043821502	0.05539	-2.641	0.06821	T	.	.	0.111	0.21428	B	.;.	.;.	-0.292839	0.02648	0.336	0.34031459427493765	0.02060	0.19388	0.20641	N	AEFDBI	0.618131	0.60405	D	-1.48832403371047	0.01932	0.08479754	-1.39829127432	0.03270	0.1522101	6.956126258102E-4	0.07645	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.8	0.679	0.17141	-1.924000	0.01657	-9.390000	0.00827	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.0:0.4522:0.0:0.5478	8.171	0.30418	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021169	0.025510	0.014946	0.035088	0.000000	0.008621	0.027439	0.015152	0.02632	2011.33	33	chr2	218429401	.	C	A	2011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.73;DP=764;ExcessHet=0;FS=1.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.441;SOR=0.53	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	218454943	218454943	C	T	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon26:c.G2927A:p.R976H	.	436	1040	45	1	0	47	0.0220969	.	.	.	719611	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.111	.	0.0047	0.00319489	0.0053	0.0010	0.0049	0	0.0074	0.0066	0.0155	0.0050	0.005097	788	154602	rs61752208	0.0057	0.0057	0.0056	0.0058	0.0097	0.0056	0.0056	0.0077	0.0069	0.0008	0.0047	0.0041	7.557e-05	0.0068	0.0097	0.0061	0.0053	0.0055	0.0049	0.0049	0.0046	0.0051	0.0101	0.0046	0.0045	0.0088	0.0083	0.0011	0	0.0101	0.0037	0.0004	0.0064	0.0136	0.0062	0.0057	0.0046	0.08	0.33585	T	0.052	0.47581	T	0.902	0.56973	P	0.277	0.50479	B	0.004459	0.33730	N	0.291939	0.999948	0.19238	N	.	.	.	0.79	0.50976	T	-1.49	0.36586	N	0.175	0.22228	-0.9968	0.30810	T	0.073	0.29707	T	10	0.0056904554	0.00126	T	.	.	.	0.111	0.31313	.	.	0.484561410422	0.48089	0.12187288382234782	0.12114	0.538746203884	0.51126	0.2870631814	0.08496	T	0.005326	0.04771	T	-0.424174	0.01609	T	-0.378347	0.35915	T	0.0147221900276854	0.00307	T	0.759724	0.38410	T	0.037994392	0.04977	0.048039705	0.07052	0.037994392	0.04976	0.048039705	0.07051	-3.702	0.22677	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	2.669803	0.34803	19.73	0.99799431956377838	0.88461	0.71741	0.35144	D	AEFGBI	0.103271	0.20695	N	-0.129099176258609	0.36129	2.084232	-0.134383631516921	0.34015	1.951945	0.968379357749628	0.29047	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	3.83	0.43287	1.329000	0.33375	2.260000	0.31754	-0.176000	0.10722	0.766000	0.29311	0.983000	0.30585	0.482000	0.28611	0.0:0.8616:0.0:0.1384	11.873	0.51812	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.006793	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	952.33	42	chr2	218454943	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.95;DP=779;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.061;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	18	0	1	0
chr2	218485743	218485743	C	A	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon16:c.G1591T:p.A531S	.	2	223	1	0	0	1	0.00223714	0.9965	0.754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	0.000399361	0.0013	0	0	0	0	0	0	0.0093	0.001022	158	154602	rs562434975	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0004	0.0074	0.0072	0	2.298e-05	3.843e-05	0	0	0.0003	1.801e-06	0.0004	0.0079	0.0002	0.0002	9.024e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0.0002	0	0	0	0	0.0054	0.024	0.47745	D	0.698	0.06970	T	0.6	0.39325	P	0.389	0.44119	B	0.008452	0.30835	N	0.375150	0.869139	0.35529	D	2.325	0.66631	M	0.99	0.41750	T	-1.44	0.35399	N	0.262	0.32921	-0.9563	0.39861	T	0.106	0.38661	T	10	0.01013729	0.00227	T	0.007913	0.20981	T	0.046	0.12618	.	.	0.29893580763	0.29502	0.2815794952381553	0.28070	0.384302552524	0.39735	0.678700208664	0.64081	T	0.003115	0.02515	T	-0.478983	0.00750	T	-0.45497	0.27149	T	0.0946122983999145	0.11753	T	0.885811	0.61165	D	0.18434629	0.39746	0.13166231	0.31611	0.18434629	0.39746	0.13166231	0.31610	-9.444	0.70510	D	.	.	0.148	0.32661	B	.;.;.;.	.;.;.;.	4.425841	0.68596	25.3	0.99600428181605516	0.74160	0.97973	0.78548	D	AEFBI	0.644952	0.62102	D	0.173199231564939	0.49914	3.18677	0.250633502091719	0.52686	3.441739	0.962605160250899	0.28634	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	4.46	4.46	0.53567	4.040000	0.57044	4.915000	0.45989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:1.0:0.0:0.0	15.837	0.78586	914	0.21048	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	523.33	33	chr2	218485743	.	C	A	523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=763;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=3.39;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr2	218634158	218634158	G	T	exonic	PLCD4	.	nonsynonymous SNV	PLCD4:NM_032726:exon12:c.G1660T:p.G554C	.	419	1102	1	0	0	1	0.000453515	.	.	.	4051616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.739	0.101997708052	8.1e-05	.	0.0001	0	0.0003	0	0	0.0002	0	0	7.12e-05	11	154602	rs369726189	4.93e-05	4.994e-05	4.768e-05	5.093e-05	0.0021	3.996e-05	3.672e-05	0.0012	0.0009	0	0.0001	0	0	0	0.0021	4.409e-05	9.942e-05	0	3.286e-05	3.283e-05	6.425e-05	0	7.35e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.145	0.97549	H	0.26	0.59314	T	-8.58	0.97481	D	0.723	0.72477	0.371	0.88663	D	0.557	0.83845	D	10	0.8614643	0.85368	D	0.101998	0.77521	D	0.739	0.90939	.	.	0.888031577584	0.88692	0.7248802491499622	0.72432	0.851204937113	0.68538	0.750844538212	0.74571	T	0.872254	0.97251	D	0.235203	0.77209	D	0.297719	0.88093	D	0.99634450674057	0.89155	D	0.938806	0.91949	D	0.89327425	0.90789	0.8415527	0.90940	0.89327425	0.90791	0.8415527	0.90941	-9.994	0.73876	D	.	.	0.410	0.60106	A	.;.;.	.;.;.	4.963687	0.82096	27.7	0.99703016774993092	0.80798	0.99446	0.96131	D	AEFBI	0.941105	0.94393	D	1.10075506251293	0.98147	17.53887	1.01676592965828	0.98926	19.90779	0.999999999728888	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	9.923000	0.98785	8.599000	0.77719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.028	0.92921	923	0.18507	Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1653.33	41	chr2	218634158	.	G	T	1653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=955;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.404;SOR=0.706	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr2	218634560	218634560	G	A	exonic	PLCD4	.	nonsynonymous SNV	PLCD4:NM_032726:exon13:c.G1826A:p.R609H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.0115245956715	.	0.000199681	0.0009	0	8.639e-05	0	0	0	0	0.0065	0.0007309	113	154602	rs543955232	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0049	2.987e-05	0.0001	3.826e-05	2.519e-05	0	0.0007	8.994e-06	0.0003	0.0054	0.0002	0.0002	6.423e-05	0.0003	0.0039	0.0001	9.233e-05	0.0026	0.0021	4.811e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0039	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.979	0.74454	D	0.000810	0.41658	D	0.220293	0.999892	0.50595	D	3.46	0.92336	M	0.42	0.56937	T	-4.44	0.77637	D	0.558	0.59563	0.026	0.82772	D	0.456	0.78814	T	10	0.022393554	0.00558	T	0.011525	0.29227	T	0.517	0.79400	.	.	0.804294555599	0.80246	0.6077237105237117	0.60704	0.885700694334	0.69982	0.263643443584	0.05332	T	0.841506	0.96308	D	-0.291139	0.09522	T	-0.188366	0.55744	T	0.326033111623558	0.26065	T	0.914708	0.86445	D	0.2963753	0.52578	0.1733155	0.39649	0.2963753	0.52578	0.1733155	0.39648	-8.437	0.64010	D	.	.	0.237	0.47105	B	.;.;.	.;.;.	5.285195	0.88739	29.7	0.99883452793489402	0.95892	0.99806	0.99590	D	AEFDBI	0.823733	0.74378	D	0.855546262667097	0.89421	9.965094	0.737831899861871	0.85245	8.523472	0.999999999710625	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	9.910000	0.98672	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.0:1.0:0.0	19.522	0.95182	923	0.18507	Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain;Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.017241	0.003049	0.000000	0.02632	2403.33	43	chr2	218634560	.	G	A	2403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=857;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.161;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	218642927	218642927	C	A	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G3589T:p.V1197L,ZNF142:NM_001105537:exon8:c.G3589T:p.V1197L,ZNF142:NM_001366290:exon8:c.G4189T:p.V1397L,ZNF142:NM_001379662:exon8:c.G3589T:p.V1197L,ZNF142:NM_001366287:exon9:c.G3100T:p.V1034L,ZNF142:NM_001366288:exon9:c.G3100T:p.V1034L,ZNF142:NM_001366289:exon9:c.G3100T:p.V1034L,ZNF142:NM_001379659:exon9:c.G4189T:p.V1397L,ZNF142:NM_001379660:exon9:c.G4189T:p.V1397L,ZNF142:NM_001379661:exon9:c.G4189T:p.V1397L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.011321708429	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs528176678	7.391e-05	7.388e-05	5.447e-05	9.354e-05	0.0014	6.25e-05	5.809e-05	0.0007	0.0005	0	4.472e-05	0	0	0	0.0014	5.756e-05	6.625e-05	0.0003	9.189e-05	9.186e-05	0.0001	8.053e-05	0.0006	5.522e-05	4.36e-05	0.0002	8.981e-05	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.102	0.30235	T	0.175	0.29945	T	0.998	0.73220	D	0.995	0.83170	D	0.000048	0.53742	D	0.123897	0.999934	0.51612	D	0.91	0.23283	L	2.23	0.18083	T	-1.43	0.35194	N	0.28	0.31925	-1.1112	0.02968	T	0.090	0.34463	T	10	0.1623554	0.30429	T	0.011322	0.28825	T	0.124	0.34239	0.267	0.21418	0.594932130068	0.59170	0.1976109155608916	0.19678	0.249377360343	0.27514	0.579116880894	0.49962	T	0.019491	0.15519	T	-0.391301	0.02638	T	-0.495306	0.22836	T	0.100378014147282	0.12400	T	0.80342	0.45053	T	0.22051325	0.44609	0.14124267	0.33642	0.22051325	0.44609	0.14124267	0.33641	-1.302	0.01404	T	.	.	0.164	0.43626	B	.;.	.;.	3.592578	0.50700	23.0	0.99800145007557006	0.88461	0.94098	0.60106	D	AEFBCI	0.518578	0.54422	D	0.59764038758236	0.73026	5.899493	0.605978664450885	0.75372	6.299147	0.999999998549457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	3.904000	0.56038	4.926000	0.46086	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.977	0.92714	917	0.20147	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1531.33	34	chr2	218642927	.	C	A	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=839;ExcessHet=0;FS=3.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.582;SOR=0.44	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr2	218651734	218651734	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366290:exon4:c.G847A:p.V283I,ZNF142:NM_001379659:exon5:c.G847A:p.V283I,ZNF142:NM_001379660:exon5:c.G847A:p.V283I,ZNF142:NM_001379661:exon5:c.G847A:p.V283I	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0006	0	0	0	0	0	0	0.0012	5.17e-05	8	154602	rs537511344	9.678e-05	7.73e-05	7.425e-05	0.0001	0.0012	8.207e-05	7.636e-05	0.0010	0.0009	0.0002	0	0	0	0	0	1.087e-05	0.0002	0.0012	5.25e-05	5.249e-05	2.569e-05	8.053e-05	0.0006	2.554e-05	1.828e-05	0.0002	8.989e-05	4.808e-05	0	0	0	0	9.414e-05	0	1.47e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1488.33	34	chr2	218651734	.	C	T	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=749;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.015;SOR=0.843	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1321	18	0	1	0
chr2	218672858	218672858	T	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon2:c.T29A:p.I10N,STK36:NM_001369423:exon2:c.T29A:p.I10N,STK36:NM_015690:exon2:c.T29A:p.I10N	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.326092110099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000314	0.45977	D	0.000000	1	0.81001	D	3.895	0.96086	H	1.3	0.86815	T	-5.97	0.90490	D	0.793	0.81758	0.885	0.95471	D	0.835	0.94468	D	10	0.95840204	0.95222	D	0.326092	0.91617	D	0.510	0.78971	0.906	0.98027	0.961027252966	0.96060	0.7955228741977718	0.79505	0.948607816731	0.72518	0.804933309555	0.82715	D	0.498986	0.82019	T	0.266605	0.80134	D	0.145183	0.79878	D	0.99826568365097	0.93671	D	0.959004	0.96179	D	0.90188146	0.91552	0.89716303	0.94774	0.90188146	0.91553	0.89716303	0.94775	-18.516	0.99701	D	.	.	0.977	0.92114	P	.;.;.;.	.;.;.;.	5.348258	0.89719	31	0.99399495218679856	0.62748	0.93684	0.58897	D	AEFGBHC	0.690105	0.65055	D	0.850688466887884	0.89145	9.85345	0.797998279026903	0.89654	10.065	0.999999998026639	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.84	5.84	0.93373	4.913000	0.63039	7.735000	0.67855	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.216	0.82037	845	0.36510	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1625.33	34	chr2	218672858	.	T	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=764;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.951;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr2	218693763	218693763	G	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon18:c.G2189A:p.R730H,STK36:NM_001369423:exon18:c.G2189A:p.R730H,STK36:NM_015690:exon18:c.G2189A:p.R730H	.	.	.	.	.	.	.	.	.	.	.	2362780	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.213	0.00674137158073	.	.	0.0001	0	0.0004	0.0002	0	5.996e-05	0	0.0001	0.00011	17	154602	rs373669832	7.32e-05	7.388e-05	8.44e-05	6.188e-05	0.0002	6.181e-05	5.742e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	0.0002	0	0	6.565e-05	0.0001	0.0001	5.908e-05	5.906e-05	5.138e-05	6.713e-05	0.0004	3.075e-05	2.208e-05	6.828e-05	2.857e-05	2.405e-05	0	6.537e-05	0	0.0004	0	0	5.88e-05	0.0005	0	0.735	0.03972	T	0.407	0.21678	T	0.0	0.02946	B	0.0	0.01387	B	0.927019	0.07511	N	1.045340	1	0.08975	N	-0.315	0.03579	N	-0.51	0.70597	T	-0.46	0.14978	N	0.067	0.04307	-1.0136	0.25784	T	0.152	0.48049	T	10	0.026168853	0.00790	T	0.006741	0.17812	T	0.213	0.50496	.	.	0.37953744168	0.37561	0.20031925113775598	0.19948	0.210335235867	0.23523	0.199034526944	0.00429	T	0.110772	0.42573	T	-0.467203	0.00885	T	-0.600014	0.12810	T	0.00898006482702581	0.00112	T	0.411359	0.10665	T	0.018350232	0.00356	0.04054289	0.04406	0.018350232	0.00356	0.04054289	0.04405	-4.402	0.29585	T	.	.	0.059	0.00820	B	.;.;.	.;.;.	-0.013368	0.04192	1.017	0.34503902151796523	0.02114	0.00449	0.02181	N	AEFBI	0.028726	0.02584	N	-1.34898596978334	0.03136	0.1395791	-1.34921880089931	0.03815	0.1787245	0.75531355058824	0.23424	0.651	0.46895	0	0.601575	0.49859	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.96	-5.19	0.02616	-0.561000	0.06048	-2.044000	0.04297	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.8517:0.0:0.1483:0.0	17.058	0.86415	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	905.33	34	chr2	218693763	.	G	A	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.217;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr2	218696531	218696531	G	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001369423:exon22:c.G2516A:p.R839Q,STK36:NM_015690:exon22:c.G2516A:p.R839Q	.	432	1067	21	2	0	25	0.0115794	.	.	.	719614	STK36-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.016	.	0.0067	0.00499201	0.0080	0.0008	0.0020	0.0003	0.0115	0.0108	0.0055	0.0082	0.0078071	1207	154602	rs13023540	0.0078	0.0078	0.0077	0.0078	0.0085	0.0076	0.0076	0.0083	0.0083	0.0009	0.0028	0.0003	5.038e-05	0.0139	0.0021	0.0085	0.0067	0.0073	0.0062	0.0062	0.0063	0.0061	0.0097	0.0059	0.0057	0.0091	0.0088	0.0012	0.0044	0.0027	0	0.0004	0.0142	0	0.0097	0.0066	0.0052	0.218	0.19090	T	0.633	0.07127	T	0.964	0.55854	D	0.289	0.40655	B	0.000840	0.41547	D	0.000000	1	0.81001	D	2.4	0.69460	M	-0.46	0.70014	T	-0.62	0.18248	N	0.157	0.16725	-0.9708	0.37030	T	0.103	0.37894	T	10	0.0047221184	0.00099	T	.	.	.	0.094	0.27141	.	.	0.758441514024	0.75625	0.2747308017526561	0.27386	0.338949971352	0.35853	0.388024359941	0.23391	T	0.118418	0.43922	T	-0.375377	0.03331	T	-0.301591	0.44557	T	0.0114167901091856	0.00170	T	0.817118	0.47377	T	0.060002606	0.12260	0.05583777	0.09868	0.060002606	0.12260	0.05583777	0.09867	-3.024	0.10442	T	.	.	0.090	0.12512	B	.;.	.;.	2.997196	0.40031	21.1	0.99902731577144455	0.97426	0.82890	0.42059	D	AEFBI	0.178238	0.30550	N	0.147581823396023	0.48699	3.078887	0.233824552593028	0.51734	3.353413	0.103093068718456	0.16436	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.43	4.55	0.55429	2.813000	0.47701	7.576000	0.60835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.1645:0.0:0.8355:0.0	9.378	0.37460	811	0.42639	.;.	AC053503.4|BCS1L|STK36|STK36	Kidney_Cortex|Nerve_Tibial|Nerve_Tibial|Pituitary	STK36	Testis	rs13023540	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	5281.83	33	chr2	218696531	.	G	A	5281.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.26;DP=1050;ExcessHet=0.119;FS=1.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.884;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr2	218752800	218752800	A	G	exonic	TTLL4	.	nonsynonymous SNV	TTLL4:NM_014640:exon17:c.A3014G:p.D1005G	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0034	0.000998403	0.0048	0.0011	0.0012	0	0.0275	0.0054	0.0088	0.0004	0.0045084	697	154602	rs116116034	0.0047	0.0047	0.0048	0.0046	0.0048	0.0046	0.0046	0.0047	0.0046	0.0007	0.0012	0	2.519e-05	0.0245	0.0003	0.0048	0.0030	0.0003	0.0049	0.0049	0.0035	0.0064	0.0052	0.0046	0.0045	0.0048	0.0046	0.0010	0.0110	0.0014	0	0	0.0299	0	0.0052	0.0028	0	0.01	0.58626	D	0.039	0.53072	D	0.996	0.68779	D	0.905	0.64260	P	0.000658	0.42656	D	0.234860	1	0.81001	D	3.185	0.88900	M	3.79	0.04267	T	-5.83	0.90729	D	0.51	0.56748	-0.4195	0.71409	T	0.295	0.66650	T	10	0.009419471	0.00213	T	.	.	.	0.183	0.45592	.	.	0.48748946032	0.48381	0.661158519121343	0.66052	0.323622915882	0.34524	0.475717514753	0.35468	T	0.030686	0.45582	T	-0.357973	0.04245	T	-0.284645	0.46326	T	0.079053227678991	0.09865	T	0.921108	0.71398	D	0.52064085	0.68296	0.634132	0.78646	0.52064085	0.68297	0.634132	0.78647	-9.303	0.69626	D	.	.	0.185	0.58651	B	.;.;.;.	.;.;.;.	4.618300	0.73312	26.0	0.99809938586311242	0.89353	0.99510	0.96896	D	AEFBI	0.784015	0.71482	D	0.475956575064487	0.65688	4.854235	0.531112233723282	0.70093	5.454933	0.9999997172103	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.783000	0.74853	8.047000	0.76340	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.736	0.69031	831	0.39019	.;.;.;.	.	.	.	.	rs116116034	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1344.33	34	chr2	218752800	.	A	G	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.124;DP=744;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.096;SOR=0.835	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	18	0	1	0
chr2	218814578	218814578	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.C1297T:p.R433W	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	588145	CYP27A1-related_disorder|Cholestanol_storage_disease|Cardiovascular_phenotype|not_provided	.|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.580	0.182828030634	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0	0.0013	0.0002005	31	154602	rs143002163	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0006	5.974e-05	4.472e-05	0	2.519e-05	0	0.0010	0.0001	0.0002	0.0008	0.0001	0.0001	7.709e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	0.0001	0.0005	0.0008	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.99	0.78936	D	0.001514	0.38793	N	0.252345	0.999987	0.54805	D	3.225	0.89467	M	-0.85	0.74371	T	-3.33	0.66206	D	0.536	0.56403	0.592	0.91791	D	0.683	0.89033	D	10	0.3845939	0.54445	T	0.182828	0.85646	D	0.580	0.83081	.	.	0.910976343166	0.91008	0.816549742780487	0.81610	0.724429857465	0.62389	0.409924387932	0.26446	T	0.807084	0.95139	D	-0.115579	0.33850	T	0.0107617	0.71032	D	0.35541138611328	0.27230	T	0.933807	0.75196	D	0.55894953	0.70452	0.5944135	0.76457	0.55894953	0.70453	0.5944135	0.76458	-10.241	0.75342	D	.	.	0.183	0.39748	B	.	.	4.450875	0.69188	25.3	0.99893037119489159	0.96666	0.72496	0.35482	D	AEFBI	0.920504	0.89258	D	0.544309856560189	0.69734	5.399516	0.391346872533874	0.61029	4.297661	0.999995437058502	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	1.507000	0.35365	2.782000	0.34741	0.599000	0.40250	0.021000	0.19753	1.000000	0.68203	0.430000	0.27449	0.0:1.0:0.0:0.0	17.780	0.88432	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	3340.33	37	chr2	218814578	.	C	T	3340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=917;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.437;SOR=0.514	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr2	218890259	218890259	A	G	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon3:c.A652G:p.M218V	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	284757	Tooth_agenesis,_selective,_4|Odonto-onycho-dermal_dysplasia|not_provided|Inborn_genetic_diseases|SchC6pf-Schulz-Passarge_syndrome	MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	0.0141032217069	7.7e-05	.	6.765e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs373991357	6.298e-05	6.293e-05	3.951e-05	8.669e-05	0.0006	5.232e-05	4.849e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0.0003	3.417e-05	4.968e-05	0.0006	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	0.932	0.02239	T	0.846	0.03548	T	0.0	0.02946	B	0.002	0.06944	B	0.000069	0.52346	N	0.128612	0.604187	0.30915	N	-2.08	0.00163	N	-0.62	0.71895	T	-0.15	0.09297	N	0.295	0.33360	-0.9444	0.41911	T	0.069	0.28213	T	10	0.053732544	0.05612	T	0.014103	0.33987	T	0.126	0.34673	.	.	0.633945079878	0.63094	0.37590291508837986	0.37504	0.0735930790758	0.08253	0.335866063833	0.15819	T	0.161913	0.50636	T	-0.410972	0.01958	T	-0.463947	0.26170	T	0.00867787473416869	0.00106	T	0.789321	0.42944	T	0.04733538	0.08075	0.0656489	0.13335	0.04733538	0.08074	0.0656489	0.13335	2.987	0.00021	T	0.08899138239684137	0.05393	0.036	0.00006	B	.	.	1.986193	0.25231	16.69	0.43360318253045371	0.03259	0.22142	0.21646	N	AEFBI	0.066839	0.13110	N	-0.848685919378769	0.12082	0.5868043	-0.548879251386358	0.20836	1.124404	0.999984588337406	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.46	3.57	0.40014	3.376000	0.52148	7.578000	0.60885	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.092:0.0:0.908:0.0	11.137	0.47604	777	0.48198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1467.33	36	chr2	218890259	.	A	G	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.634;DP=745;ExcessHet=0;FS=1.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.186;SOR=0.944	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	219006485	219006485	C	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon30:c.G4699A:p.E1567K	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00503622355902	0.0004	0.00119808	0.0016	0	0.0005	0	0	0.0007	0.0011	0.0088	0.0014101	218	154602	rs149635127	0.0010	0.0010	0.0009	0.0012	0.0080	0.0010	0.0010	0.0075	0.0073	8.961e-05	0.0005	0.0031	0	0	0.0028	0.0006	0.0012	0.0080	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	2.406e-05	0	0.0004	0.0043	0	0	0	0.0005	0.0009	0.0046	0.376	0.11334	T	0.002	0.79402	D	0.152	0.28062	B	0.058	0.26451	B	0.130895	0.18642	N	0.445778	0.737426	0.29769	N	.	.	.	3.53	0.04852	T	-0.68	0.19509	N	0.197	0.24260	-1.0335	0.19332	T	0.020	0.08220	T	10	0.0048318207	0.00103	T	0.005036	0.12722	T	0.032	0.07718	.	.	0.273070737957	0.26916	0.36986674017828475	0.36900	0.0804903107758	0.09062	0.286842107773	0.08464	T	0.012049	0.10654	T	-0.582721	0.00185	T	-0.603983	0.12478	T	0.020103478559073	0.00711	T	0.634537	0.24876	T	0.13680832	0.31702	0.14295444	0.33991	0.13680832	0.31702	0.14295444	0.33990	-2.262	0.04352	T	.	.	0.075	0.05317	B	.;.	.;.	1.646257	0.21009	15.01	0.99669575394439025	0.78523	0.44148	0.27255	N	AEFBI	0.129140	0.24720	N	-0.377654692256713	0.26266	1.432249	-0.328266726446925	0.27190	1.507017	0.965988178007688	0.28870	0.59774	0.34471	0	0.59043	0.45803	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	2.297000	0.43254	3.062000	0.36164	0.596000	0.33519	0.119000	0.23158	0.431000	0.24855	0.341000	0.25455	0.1848:0.8152:0.0:0.0	11.062	0.47169	599	0.68140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.014620	0.050000	0.000000	0.012195	0.011364	0.02632	1541.33	41	chr2	219006485	.	C	T	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.88;DP=791;ExcessHet=0;FS=5.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.106;SOR=1.048	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr2	219030153	219030153	G	C	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon9:c.C1022G:p.A341G,CFAP65:NM_001278295:exon10:c.C1184G:p.A395G,CFAP65:NM_194302:exon10:c.C1217G:p.A406G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00369904059859	.	.	0.0001	0.0003	0.0002	0	0	0.0001	0	0	0.0001229	19	154602	rs200260682	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0002	0.0002	0	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0003	0	0	0	0	0.0004	0.0009	0	0.369	0.11807	T	0.263	0.45110	T	0.034	0.20480	B	0.026	0.20792	B	0.650350	0.05920	N	1.210680	1	0.08975	N	.	.	.	3.41	0.08194	T	-1.55	0.41428	N	0.248	0.28849	-0.9347	0.43439	T	0.020	0.08220	T	10	0.07880509	0.12605	T	0.003699	0.08558	T	0.047	0.12962	0.422	0.46529	0.119812018005	0.11559	0.3289394323188497	0.32806	0.0848422555487	0.09587	0.251787185669	0.03958	T	0.045449	0.27127	T	-0.55386	0.00276	T	-0.701294	0.05755	T	0.0142529898830175	0.00282	T	0.681532	0.30863	T	0.044008777	0.06961	0.053299602	0.08950	0.044008777	0.06960	0.053299602	0.08950	-5.245	0.39536	T	.	.	0.130	0.27998	B	.;.;.;.	.;.;.;.	1.931638	0.24533	16.43	0.97551338107837893	0.34571	0.13936	0.18133	N	AEFDGBCI	0.167707	0.29441	N	-0.810026022388942	0.13054	0.6404083	-0.798757851078501	0.14526	0.7594025	0.354112794500684	0.19712	0.608966	0.35542	0	0.615948	0.52940	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	4.94	0.795	0.17786	0.179000	0.16653	2.822000	0.34969	-0.105000	0.15698	0.013000	0.18845	0.997000	0.33255	0.783000	0.37026	0.2156:0.301:0.1958:0.2876	0.481	0.00512	595	0.68488	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	33	chr2	219030153	.	G	C	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.249;DP=737;ExcessHet=0;FS=2.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.506;SOR=0.993	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	18	0	1	0
chr2	219035598	219035598	T	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon4:c.A229C:p.I77L,CFAP65:NM_152389:exon4:c.A229C:p.I77L,CFAP65:NM_001278295:exon5:c.A391C:p.I131L,CFAP65:NM_194302:exon5:c.A424C:p.I142L	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0005	0.0071885	0.0036	0.0002	0	0.0466	0	0.0004	0.0033	0.0002	0.00326	504	154602	rs75663378	0.0011	0.0011	0.0011	0.0011	0.0318	0.0011	0.0011	0.0304	0.0298	5.974e-05	2.236e-05	0.0002	0.0318	5.616e-05	0	0.0002	0.0014	0.0002	0.0018	0.0018	0.0013	0.0023	0.0441	0.0016	0.0015	0.0394	0.0376	0.0002	0	0	0.0009	0.0441	0	0	0.0004	0.0014	0.0008	0.219	0.41915	T	0.021	0.92824	D	0.053	0.22573	B	0.022	0.19653	B	0.475097	0.12231	N	0.700200	0.999582	0.20930	N	.	.	.	1.6	0.28604	T	-0.48	0.21860	N	0.292	0.33030	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034270287	0.00060	T	.	.	.	0.025	0.05312	.	.	0.214338557667	0.21045	0.25884908083715663	0.25798	0.0816263488406	0.09187	0.325879335403	0.14310	T	0.032807	0.22648	T	-0.613135	0.00121	T	-0.612522	0.11781	T	0.00969948854250371	0.00127	T	0.721628	0.35686	T	0.08688568	0.20210	0.06664217	0.13680	0.08688568	0.20210	0.06664217	0.13680	-2.247	0.10010	T	.	.	0.121	0.52252	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.614453	0.09830	6.592	0.93637158098150208	0.23514	0.11540	0.16701	N	AEFBI	0.205932	0.33224	N	-0.789253153377991	0.13589	0.6705467	-0.859833901620405	0.13051	0.6749338	0.374785222071486	0.19904	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	-7.63	0.01150	-0.643000	0.05518	-5.371000	0.01744	0.661000	0.55757	0.005000	0.17040	0.000000	0.08366	0.954000	0.50415	0.3643:0.3639:0.0:0.2717	6.353	0.20588	591	0.68823	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1252.33	33	chr2	219035598	.	T	G	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.101;DP=770;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.598;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr2	219182444	219182446	GAA	-	exonic	RETREG2	.	nonframeshift deletion	RETREG2:NM_001321109:exon9:c.826_828del:p.E278del,RETREG2:NM_001321110:exon9:c.721_723del:p.E243del,RETREG2:NM_024293:exon9:c.1447_1449del:p.E485del	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	.	8.238e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs370732354	3.626e-05	3.625e-05	3.539e-05	3.713e-05	0.0012	2.828e-05	2.565e-05	0.0009	0.0008	0.0012	4.472e-05	0	0	0	0	0	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1461.29	52	chr2	219182443	.	GGAA	G	1461.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=933;ExcessHet=0;FS=6.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.709;SOR=1.177	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr2	219218298	219218298	C	-	exonic	ABCB6	.	frameshift deletion	ABCB6:NM_001349828:exon1:c.376delG:p.V126Sfs*78,ABCB6:NM_005689:exon1:c.376delG:p.V126Sfs*124	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1019575	not_provided|ABCB6-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0001	0.0014	0	0	0	0	0	0	3.84e-05	1	26028	rs377591749	4.587e-05	4.583e-05	4.632e-05	4.541e-05	0.0016	3.664e-05	3.35e-05	0.0013	0.0011	0.0016	6.708e-05	0	0	0	0	0	0.0002	0	0.0003	0.0003	0.0002	0.0004	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	6.533e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2507.29	37	chr2	219218297	.	AC	A	2507.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=843;ExcessHet=0;FS=4.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.896;SOR=1.061	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr2	219223604	219223604	C	T	exonic	ATG9A	.	nonsynonymous SNV	ATG9A:NM_024085:exon9:c.G1580A:p.R527H,ATG9A:NM_001077198:exon10:c.G1580A:p.R527H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0191382245823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365968995	2.748e-06	4.788e-06	2.732e-06	2.764e-06	2.706e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.706e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.45756	D	0.07	0.43721	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.048767	1	0.81001	D	2.4	0.69460	M	1.76	0.35031	T	-3.35	0.71519	D	0.707	0.71055	-0.8013	0.55068	T	0.221	0.58409	T	10	0.82116044	0.81319	D	0.019138	0.41421	T	0.427	0.73445	0.677	0.81496	0.498862405439	0.49522	0.6634147103236736	0.66278	2.32432958864	0.96653	0.874878168106	0.93258	D	0.516022	0.82983	D	0.202232	0.74101	D	0.0527154	0.73763	D	0.966844737529755	0.67714	D	0.90231	0.87031	D	0.4510958	0.64110	0.20675965	0.44904	0.4510958	0.64111	0.20675965	0.44903	-9.486	0.70772	D	.	.	0.464	0.64141	A	.;.;.;.;.	.;.;.;.;.	5.643026	0.92756	33	0.99724841545871978	0.82336	0.97311	0.73954	D	AEFDBCI	0.920082	0.89153	D	0.842071639418929	0.88651	9.659489	0.8514732716144	0.93102	11.82535	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.813000	0.84661	7.727000	0.67598	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.279	0.98503	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1972.33	33	chr2	219223604	.	C	T	1972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.172;DP=1067;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.567;SOR=0.81	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr2	219231952	219231952	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A173C:p.E58A,ANKZF1:NM_018089:exon3:c.A173C:p.E58A	.	417	1103	1	1	0	3	0.00135808	.	.	.	1153998	ANKZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00259585	0.0012	0	8.645e-05	0	0	0	0	0.0088	0.0010479	162	154602	rs369043900	0.0005	0.0005	0.0003	0.0007	0.0079	0.0005	0.0005	0.0074	0.0072	0	0	0	0	0	0.0010	1.799e-06	0.0006	0.0079	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0.0089	0.193	0.25873	T	0.29	0.30436	T	0.075	0.24198	B	0.055	0.25995	B	0.004762	0.33407	N	0.346719	0.99741	0.43869	D	2.71	0.79292	M	1.73	0.26445	T	-1.03	0.53258	N	0.133	0.12913	-0.9685	0.37510	T	0.116	0.40919	T	10	0.0032258332	0.00055	T	.	.	.	0.022	0.04323	0.341	0.33302	0.712709602629	0.71019	0.32588230398109863	0.32501	0.120202699321	0.13538	0.362540781498	0.19756	T	0.002944	0.21502	T	-0.528519	0.00392	T	-0.525702	0.19717	T	0.0572965060756237	0.06736	T	0.792121	0.43364	T	0.037600532	0.04850	0.024819145	0.00508	0.037600532	0.04849	0.024819145	0.00508	-4.568	0.31767	T	.	.	0.089	0.22208	B	.;.;.;.	.;.;.;.	1.886983	0.23966	16.22	0.94873875164361976	0.25697	0.87961	0.47687	D	AEFDBI	0.099441	0.20018	N	-0.0053343925648749	0.41612	2.492203	-0.00856346660108221	0.39325	2.330044	0.999859346607416	0.44174	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	2.77	0.31614	0.414000	0.20885	3.961000	0.40748	0.684000	0.82519	0.669000	0.28339	1.000000	0.68203	0.983000	0.59808	0.7544:0.0:0.2456:0.0	5.123	0.14202	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	975.33	34	chr2	219231952	.	A	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=701;ExcessHet=0;FS=10.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.009;SOR=1.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1009.33	34	chr2	219231956	.	A	C	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=734;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.183;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr2	219236371	219236371	T	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon11:c.T1477C:p.Y493H,ANKZF1:NM_001042410:exon14:c.T2107C:p.Y703H,ANKZF1:NM_018089:exon14:c.T2107C:p.Y703H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.361500649458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-3.82	0.95761	D	-2.89	0.69950	D	0.819	0.81857	1.051	0.98137	D	0.927	0.97574	D	10	0.8701224	0.86274	D	0.361501	0.92523	D	0.925	0.98154	0.673	0.81101	0.98744551425	0.98730	0.68002420286849	0.67941	0.609113261058	0.55654	0.677169024944	0.63863	T	0.201739	0.55970	T	0.534946	0.95310	D	0.530636	0.95241	D	0.989032485938325	0.79299	D	0.89841	0.64469	D	0.6724671	0.76565	0.6477056	0.79397	0.6724671	0.76567	0.6477056	0.79397	-8.233	0.62647	D	.	.	0.759	0.75447	P	.;.;.	.;.;.	4.789933	0.77721	26.8	0.99836360439065608	0.91714	0.95565	0.65228	D	AEFBCI	0.833712	0.75188	D	0.835928166814104	0.88292	9.524219	0.78839980932342	0.88977	9.789	0.999999994731815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.029000	0.76210	6.131000	0.53917	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.566	0.76036	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1675.33	38	chr2	219236371	.	T	C	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=855;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.182;SOR=0.84	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	0	1	0
chr2	219243545	219243545	C	G	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon1:c.G29C:p.R10P,GLB1L:NM_001286423:exon2:c.G29C:p.R10P,GLB1L:NM_024506:exon2:c.G29C:p.R10P	.	428	1093	1	0	0	1	0.000457247	.	.	.	3443313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.515	0.0105381559471	.	.	3.307e-05	0	0	0	0	6.017e-05	0	0	2.59e-05	4	154602	rs755593846	3.283e-05	3.283e-05	3.811e-05	2.75e-05	0.0012	2.543e-05	2.249e-05	0.0006	0.0004	8.961e-05	0	0	0	0	0.0012	3.058e-05	6.623e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.31	0.23541	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.417000	0.04625	N	1.386070	1	0.08975	N	0	0.06538	N	-4.28	0.97126	D	0.62	0.93697	N	0.105	0.11340	-0.1128	0.79802	T	0.662	0.88280	D	10	0.19088215	0.34751	T	0.010538	0.27195	T	0.515	0.79279	0.574	0.69826	0.163833314356	0.15978	0.6996923110227794	0.69910	0.151989637949	0.17153	0.287597000599	0.08574	T	0.21421	0.57573	T	0.00451565	0.52277	T	-0.100839	0.63334	T	0.0322118892387108	0.02340	T	0.378962	0.18617	T	0.12041014	0.28334	0.071212284	0.15221	0.12041014	0.28333	0.071212284	0.15221	-2.024	0.03273	T	.	.	0.086	0.17146	B	.;.;.;.;.	.;.;.;.;.	-0.209814	0.03040	0.468	0.66669065796616411	0.08127	0.00143	0.00871	N	AEFDBHI	0.065257	0.12719	N	-1.6923219712839	0.00869	0.03761971	-1.7182921937549	0.01059	0.04752538	0.999998356668665	0.74766	0.632932	0.41330	0	0.588066	0.40923	0	0.608524	0.38960	0	0.755437	0.99637	0	.	.	4.97	-4.74	0.03013	-0.628000	0.05611	-0.040000	0.12681	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.444:0.2166:0.1946:0.1449	1.614	0.02537	535	0.73288	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	986.33	33	chr2	219243545	.	C	G	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=744;ExcessHet=0;FS=4.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.17;SOR=0.387	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	219498187	219498187	T	G	exonic	SPEGNB	.	stoploss	SPEGNB:NM_001286811:exon4:c.T715G:p.X239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	.	.	7.822e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs772147782	8.69e-07	2.736e-06	0	1.772e-06	1.315e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.315e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0775245	0.40117	T	-0.349135	0.39304	T	0.552219092845917	0.34561	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.035371	0.25873	16.92	0.76351426751172013	0.11433	0.98080	0.79428	D	AEFDGBHCI	.	.	.	0.0868039723423909	0.45848	2.834522	0.116321042200685	0.45383	2.802446	1.0	0.98316	0.199473	0.04044	0	0.170008	0.04002	0	0.215285	0.04585	0	0.088244	0.02422	0	0.953436	0.62768	5.18	5.18	0.71140	1.509000	0.35387	3.851000	0.40089	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:0.0:1.0	12.644	0.56085	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1396.33	43	chr2	219498187	.	T	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.121;DP=876;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.56;SOR=0.51	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,111,1665:.	18	0	1	0
chr2	219549197	219549197	G	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon4:c.G788A:p.R263Q,TMEM198:NM_001303098:exon5:c.G788A:p.R263Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0044	0.00519169	0.0013	0.0138	0.0006	0	0	0.0001	0	6.058e-05	0.0013001	201	154602	rs144974523	0.0004	0.0004	0.0005	0.0004	0.0139	0.0004	0.0004	0.0128	0.0124	0.0139	0.0008	3.826e-05	0	0	0.0009	4.496e-05	0.0008	4.638e-05	0.0040	0.0040	0.0039	0.0041	0.0140	0.0038	0.0037	0.0131	0.0127	0.0140	0	0.0013	0	0	0	0	4.41e-05	0.0038	0	0.039	0.42487	D	0.123	0.35582	T	0.989	0.62824	D	0.398	0.44426	B	0.009398	0.30383	N	0.298390	0.880629	0.28055	N	2.165	0.60562	M	.	.	.	-2.72	0.57920	D	0.401	0.44187	-1.0724	0.08894	T	0.024	0.10239	T	9	0.00884372	0.00200	T	.	.	.	0.098	0.28162	.	.	0.367992661779	0.36405	0.7759420193178419	0.77544	0.437078892741	0.43779	0.627881705761	0.56845	T	0.044141	0.26724	T	-0.434494	0.01393	T	-0.38522	0.35110	T	0.0345451729127426	0.02730	T	0.938606	0.76932	D	0.16858517	0.37324	0.124482915	0.30003	0.16858517	0.37324	0.124482915	0.30003	-3.663	0.18773	T	.	.	0.156	0.35498	B	.;.	.;.	4.651889	0.74163	26.1	0.99888849973157734	0.96359	0.95667	0.65647	D	AEFBI	0.582666	0.58220	D	0.404731878040677	0.61682	4.372621	0.489426998673379	0.67287	5.063925	0.999993893281908	0.74766	0.634777	0.41761	0	0.627178	0.54094	0	0.643519	0.47002	0	0.63947	0.58350	0	.	.	5.48	4.59	0.56297	5.565000	0.67067	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2626:0.0:0.7374:0.0	5.811	0.17730	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1342.33	34	chr2	219549197	.	G	A	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.294;SOR=0.625	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr2	219563457	219563457	G	A	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon7:c.C2578T:p.P860S,OBSL1:NM_001173431:exon7:c.C2578T:p.P860S,OBSL1:NM_015311:exon7:c.C2578T:p.P860S	3-M syndrome 2	.	.	.	.	.	.	.	.	.	.	719665	3M_syndrome_2|not_provided	MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	.	.	0.00479233	0.0016	0	8.684e-05	0.0201	0	0.0002	0	0.0001	0.0014295	221	154602	rs117788171	0.0012	0.0012	0.0012	0.0011	0.0382	0.0011	0.0011	0.0366	0.0360	0	0	0.0025	0.0382	0	0.0007	3.868e-05	0.0007	0.0002	0.0009	0.0009	0.0007	0.0010	0.0213	0.0008	0.0007	0.0181	0.0168	0	0	0	0.0043	0.0213	9.416e-05	0	5.883e-05	0.0005	0.0006	0.399	0.10517	T	0.906	0.36901	T	0.002	0.37393	B	0.019	0.37572	B	.	.	.	.	1	0.08975	N	0.315	0.10303	N	-0.13	0.64818	T	0.16	0.18877	N	0.272	0.34336	-1.0627	0.11093	T	0.063	0.26065	T	9	0.0036526322	0.00067	T	.	.	.	0.040	0.10527	.	.	0.542721108892	0.53925	0.38052030163082373	0.37967	0.171380258948	0.19308	0.276728093624	0.07041	T	0.011121	0.09959	T	-0.50622	0.00527	T	-0.462682	0.26307	T	0.0193305514691035	0.00638	T	0.728627	0.36682	T	0.07918061	0.18076	0.088930644	0.20766	0.08387399	0.19387	0.11397373	0.27509	-4.238	0.32159	T	.	.	0.090	0.44527	B	.;.;.;.;.	.;.;.;.;.	1.354449	0.17625	13.27	0.96368038056859628	0.29573	0.13667	0.17985	N	AEFBCI	0.285925	0.39843	N	-0.66032190571382	0.17160	0.8806621	-0.593794338006899	0.19654	1.055464	0.999798551201646	0.43153	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	4.69	1.61	0.22752	-0.148000	0.10203	0.721000	0.21012	0.672000	0.70159	0.000000	0.06391	0.015000	0.20450	0.508000	0.29198	0.0:0.0:0.4666:0.5334	13.246	0.59453	114	0.95383	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4622.33	73	chr2	219563457	.	G	A	4622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=1036;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.889;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1287:.	18	0	1	0
chr2	219566965	219566965	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon5:c.G1999A:p.A667T,OBSL1:NM_001173431:exon5:c.G1999A:p.A667T,OBSL1:NM_015311:exon5:c.G1999A:p.A667T	3-M syndrome 2	0	1521	1	0	0	1	0.000328623	.	.	.	697355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	.	0.0038	0.00419329	0.0011	0.0128	0.0007	0	0	4.54e-05	0	0	0.0010996	170	154602	rs141057611	0.0004	0.0004	0.0005	0.0004	0.0136	0.0004	0.0004	0.0126	0.0122	0.0136	0.0007	3.826e-05	0	0	0.0005	6.116e-05	0.0009	2.319e-05	0.0038	0.0038	0.0037	0.0038	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0016	0	0	0	0	2.94e-05	0.0038	0	0.009	0.57480	D	0.062	0.51421	T	0.114	0.28960	B	0.135	0.39904	B	.	.	.	.	0.981252	0.25199	N	1.245	0.31408	L	1.13	0.38556	T	-0.78	0.21644	N	0.163	0.26957	-0.9849	0.33856	T	0.073	0.29419	T	9	0.007147908	0.00162	T	.	.	.	0.009	0.00846	.	.	0.220303561663	0.21668	0.4330655427152288	0.43223	0.174836253178	0.19684	0.318722516298	0.13228	T	0.014514	0.12343	T	-0.549722	0.00293	T	-0.551383	0.17194	T	0.0133907157261565	0.00242	T	0.890911	0.62511	D	0.08476337	0.19634	0.118859	0.28690	0.08434723	0.19519	0.09731925	0.23159	-3.932	0.25438	T	.	.	0.068	0.12276	B	.;.;.;.;.	.;.;.;.;.	2.924411	0.38829	20.8	0.99702257536190242	0.80729	0.87036	0.46457	D	AEFBCI	0.257711	0.37639	N	-0.286541052417816	0.29667	1.647261	-0.1652954221724	0.32822	1.871294	0.997502843205149	0.35692	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.579976	0.35079	0	.	.	5.05	3.19	0.35720	0.755000	0.26070	1.895000	0.29544	0.596000	0.33519	0.951000	0.33123	0.952000	0.29052	0.862000	0.40904	0.1805:0.6456:0.1739:0.0	8.124	0.30149	115	0.95340	Immunoglobulin subtype;Immunoglobulin subtype;.;.;Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1772.33	33	chr2	219566965	.	C	T	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.398;DP=829;ExcessHet=0;FS=4.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.495;SOR=0.401	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr2	219607057	219607057	G	A	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon13:c.G1139A:p.R380Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0205672911328	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs375742770	6.431e-05	6.43e-05	5.99e-05	6.877e-05	0.0031	5.362e-05	4.977e-05	0.0020	0.0017	2.987e-05	6.708e-05	0	0	0	0.0031	5.486e-05	0.0001	4.637e-05	3.943e-05	3.94e-05	2.569e-05	5.381e-05	6.545e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.413e-05	0	6.545e-05	0	0	0	0	5.88e-05	0	0	0.037	0.43085	D	0.054	0.47097	T	.	.	.	.	.	.	0.002253	0.36929	N	0.164028	0.661758	0.33059	D	.	.	.	3.32	0.06214	T	-2.08	0.47514	N	0.312	0.35194	-1.0308	0.20195	T	0.025	0.10777	T	10	0.15683737	0.29529	T	0.020567	0.43191	T	0.054	0.15330	.	.	0.0482279557977	0.04254	0.3634899111886708	0.36262	.	.	0.533183336258	0.43484	T	.	.	.	-0.343759	0.05132	T	-0.516228	0.20678	T	0.225494671140713	0.21735	T	0.89741	0.64114	D	0.1064163	0.25162	0.09955482	0.23774	0.1064163	0.25162	0.09955482	0.23773	-7.829	0.59899	D	.	.	0.194	0.41387	B	.	.	5.012775	0.83260	28.0	0.99923548083800218	0.98917	0.82150	0.41422	D	AEFDBI	0.356689	0.44798	N	0.347752106547348	0.58619	4.035482	0.343955500533083	0.58144	3.983344	0.760861287268756	0.23507	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.61	3.73	0.41982	4.634000	0.61023	7.568000	0.60641	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2041:0.0:0.7959:0.0	6.794	0.22899	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2250.33	38	chr2	219607057	.	G	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.041;SOR=0.677	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr2	221426613	221426613	G	C	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon15:c.C2544G:p.N848K,EPHA4:NM_001363748:exon16:c.C2697G:p.N899K,EPHA4:NM_004438:exon16:c.C2697G:p.N899K,EPHA4:NM_001304536:exon17:c.C2697G:p.N899K	.	.	.	.	.	.	.	.	.	.	.	708074	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	0.0059	0.00539137	0.0017	0.0194	0.0010	0	0	1.599e-05	0	0	0.00152	235	154602	rs61731200	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0179	0.0174	0.0191	0.0010	0	0	0	0	6.297e-06	0.0010	0	0.0055	0.0056	0.0057	0.0054	0.0192	0.0052	0.0051	0.0181	0.0176	0.0192	0	0.0018	0	0	0	0	0.0001	0.0071	0	0.049	0.39820	D	0.149	0.32675	T	0.116	0.26475	B	0.023	0.19966	B	0.000004	0.62929	D	0.134765	0.999986	0.58761	D	1.525	0.38595	L	0.09	0.61443	T	-1.52	0.38540	N	0.373	0.53708	-0.9670	0.37814	T	0.071	0.29001	T	10	0.0076327324	0.00173	T	.	.	.	0.098	0.28162	0.35	0.34760	0.626125694583	0.62308	0.5202953512320242	0.51952	0.683800107588	0.60187	0.637767612934	0.58246	T	0.116349	0.43562	T	-0.482252	0.00717	T	-0.450562	0.27635	T	0.0195079748437686	0.00655	T	0.729327	0.34443	T	0.1725655	0.37954	0.1519014	0.35763	0.17972858	0.39059	0.13397172	0.32113	-10.726	0.78134	D	0.26829790525326136	0.36134	0.216	0.44999	B	.;.;.	.;.;.	2.644994	0.34426	19.62	0.99140659133879927	0.53518	0.98709	0.85857	D	AEFBI	0.589832	0.58656	D	-0.15402775142638	0.35064	2.009311	-0.0293113504821619	0.38397	2.261625	0.941779735721905	0.27492	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.77	1.98	0.25351	2.343000	0.43657	3.989000	0.40972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.3186:0.0:0.6814:0.0	10.242	0.42497	920	0.19381	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	796.33	33	chr2	221426613	.	G	C	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=700;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.643;SOR=1.264	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr2	221501139	221501139	G	A	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon3:c.C704T:p.T235M,EPHA4:NM_001363748:exon4:c.C857T:p.T286M,EPHA4:NM_004438:exon4:c.C857T:p.T286M,EPHA4:NM_001304536:exon5:c.C857T:p.T286M	.	430	1088	3	1	0	5	0.00229253	.	.	.	733214	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0181169551908	0.0002	.	0.0004	0	0.0032	0	0	0.0001	0	0.0002	0.0003234	50	154602	rs200225096	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	5.993e-05	0.0027	0.0001	0.0001	1.873e-05	0.0002	9.72e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.655e-05	0	0.0007	0.0003	0	0	0	0.0001	0.0005	0.0002	0.042	0.42783	D	0.028	0.55759	D	0.079	0.24468	B	0.009	0.14300	B	0.000000	0.84330	D	0.046113	0.999951	0.52935	D	1.26	0.31868	L	-0.08	0.63911	T	-0.95	0.25332	N	0.55	0.57690	-0.8782	0.49903	T	0.197	0.55244	T	10	0.018712014	0.00410	T	0.018117	0.40075	T	0.125	0.34456	.	.	0.429810549338	0.42601	0.41733634977744494	0.41649	0.886143667092	0.70005	0.685169517994	0.65012	T	0.096663	0.39870	T	-0.392512	0.02591	T	-0.340271	0.40313	T	0.0589616004721113	0.07004	T	0.762924	0.38892	T	0.21248867	0.43601	0.30254707	0.56286	0.23636903	0.46486	0.30908626	0.56924	-8.466	0.64204	D	0.26884779653703217	0.36199	0.103	0.20780	B	.;.;.	.;.;.	3.437079	0.47799	22.5	0.99453550964473258	0.65427	0.98011	0.78855	D	AEFBIJ	0.879558	0.80560	D	0.206555877620935	0.51515	3.332231	0.420839940345221	0.62864	4.509386	0.999999994002853	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	6.07	6.07	0.98675	7.709000	0.83610	5.931000	0.51320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.644	0.99572	863	0.32847	Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1391.33	34	chr2	221501139	.	G	A	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.49;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr2	222916332	222916332	A	G	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon3:c.A392G:p.Q131R,ACSL3:NM_001354158:exon4:c.A392G:p.Q131R,ACSL3:NM_203372:exon4:c.A392G:p.Q131R,ACSL3:NM_004457:exon5:c.A392G:p.Q131R	.	.	.	.	.	.	.	.	.	.	.	4109785	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00549309144737	.	.	7.512e-05	0	0	0	0.0002	0.0001	0	0	5.82e-05	9	154602	rs765847576	2.752e-05	2.941e-05	3.423e-05	2.075e-05	2.075e-05	2.075e-05	1.827e-05	1.382e-05	1.154e-05	0	0	0	0	0.0002	0	2.075e-05	0.0001	0	2.628e-05	2.627e-05	5.138e-05	0	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0003	0	1.47e-05	0	0	0.061	0.37118	T	0.135	0.34124	T	0.0	0.02946	B	0.001	0.04355	B	0.546427	0.11481	N	0.821697	1	0.08975	N	-0.65	0.02095	N	1.07	0.39586	T	-1.5	0.36586	N	0.144	0.14480	-1.0374	0.18109	T	0.054	0.22921	T	10	0.09828007	0.17758	T	0.005493	0.14136	T	0.088	0.25558	0.516	0.61611	0.294470080753	0.29051	0.2922500914603254	0.29138	0.231541109432	0.25707	0.264913618565	0.05490	T	0.06525	0.32640	T	-0.444989	0.01209	T	-0.684636	0.06704	T	0.0818936824798584	0.10228	T	0.669433	0.27806	T	0.09306753	0.21850	0.111919045	0.27001	0.09306753	0.21849	0.111919045	0.27001	-6.949	0.53661	T	.	.	0.072	0.04238	B	.;.	.;.	1.635896	0.20880	14.95	0.98303441386693535	0.40068	0.24318	0.22356	N	AEFDBHCI	0.153440	0.27830	N	-0.534925481842864	0.20959	1.108745	-0.372937833405168	0.25807	1.421505	0.999999406201089	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	5.22	4.06	0.46572	3.289000	0.51454	5.419000	0.48560	0.756000	0.94297	0.097000	0.22731	0.963000	0.29397	0.941000	0.48210	0.8494:0.0:0.1506:0.0	8.508	0.32362	927	0.17636	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	564.33	33	chr2	222916332	.	A	G	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.112;DP=733;ExcessHet=0;FS=3.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=1.28;SOR=1.296	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	223959784	223959784	G	A	exonic	MRPL44	.	nonsynonymous SNV	MRPL44:NM_022915:exon2:c.G430A:p.E144K	.	428	1093	1	0	0	1	0.000457247	.	.	.	3135326	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.00876502217387	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541910635	1.71e-05	1.71e-05	1.089e-05	2.338e-05	5.974e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	5.974e-05	0	0	0	0	0	1.709e-05	1.656e-05	3.478e-05	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	1.914e-05	1.03e-05	7.218e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.248	0.17239	T	0.051	0.47828	T	0.027	0.19556	B	0.005	0.11217	B	0.000418	0.44736	D	0.252278	1	0.08975	N	1.04	0.26193	L	1.17	0.37910	T	-0.39	0.13611	N	0.218	0.24385	-1.0347	0.18951	T	0.045	0.19397	T	10	0.10770184	0.20017	T	0.008765	0.23123	T	0.092	0.26621	.	.	0.371903410333	0.36803	0.2434835533774798	0.24262	0.167181305185	0.18855	0.305670619011	0.11253	T	0.009096	0.08305	T	-0.305285	0.08170	T	-0.49477	0.22891	T	0.321717232465744	0.25892	T	0.855914	0.54393	D	0.19187944	0.40834	0.11655056	0.28135	0.19187944	0.40833	0.11655056	0.28134	-0.989	0.00987	T	0.1050193516000093	0.08278	0.102	0.18164	B	.	.	2.783455	0.36570	20.3	0.97870035740482941	0.36526	0.70570	0.34645	D	AEFDGBHIJ	0.390451	0.46927	N	-0.505379274088254	0.21905	1.165953	-0.361171341566076	0.26165	1.443479	0.999999999714753	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.616919	0.45865	0	.	.	5.7	4.81	0.61401	4.719000	0.61629	6.523000	0.55837	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.034000	0.13613	0.0843:0.0:0.9157:0.0	11.700	0.50831	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2328.33	33	chr2	223959784	.	G	A	2328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=922;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.526;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr2	224796987	224796987	A	G	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon43:c.T4786C:p.S1596P,DOCK10:NM_001363762:exon43:c.T4843C:p.S1615P,DOCK10:NM_014689:exon43:c.T4804C:p.S1602P	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.00734975460636	.	0.000399361	0.0005	0.0001	0	0.0001	0	6.016e-05	0.0011	0.0033	0.0004075	63	154602	rs201933376	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0.0001	0	0.0002	4.498e-05	0.0002	0.0032	0.0001	0.0001	6.428e-05	0.0002	0.0033	7.091e-05	5.748e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.47e-05	0	0.0033	0.013	0.53900	D	0.009	0.69154	D	0.958	0.54977	D	0.418	0.45020	B	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.125	0.59049	M	3.54	0.04799	T	-3.41	0.67129	D	0.929	0.94077	-1.1948	0.00193	T	0.040	0.17020	T	10	0.020558476	0.00476	T	0.00735	0.19496	T	0.481	0.77142	.	.	0.439551795455	0.43578	0.6945832434658576	0.69399	0.702793909677	0.61229	0.823256969452	0.85527	D	0.174243	0.52340	T	-0.114742	0.33985	T	0.0599837	0.74243	D	0.136322886650673	0.15954	T	0.945505	0.79230	D	0.7909911	0.83335	0.8241624	0.89806	0.7909911	0.83337	0.8241624	0.89807	-8.404	0.63791	D	.	.	0.691	0.82343	P	.;.;.	.;.;.	4.388397	0.67704	25.1	0.99902417574585523	0.97426	0.98950	0.89059	D	AEFDGBI	0.969120	0.99155	D	0.71576303105237	0.80666	7.345079	0.759055896631479	0.86831	9.017444	0.999999999575565	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.631631	0.49550	0	.	.	6.02	6.02	0.97559	8.947000	0.92735	9.317000	0.80010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.545	0.84275	764	0.49969	.;Dedicator of cytokinesis, C-terminal;Dedicator of cytokinesis, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr2	224796987	.	A	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=705;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=2.18;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr2	224796988	224796988	C	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon43:c.G4785T:p.K1595N,DOCK10:NM_001363762:exon43:c.G4842T:p.K1614N,DOCK10:NM_014689:exon43:c.G4803T:p.K1601N	.	435	1077	9	1	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00679227016762	.	0.000399361	0.0005	0.0001	0	0.0001	0	4.51e-05	0.0011	0.0033	0.000401	62	154602	rs563171508	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0.0001	0	0.0002	4.498e-05	0.0002	0.0032	0.0001	0.0001	6.426e-05	0.0002	0.0033	7.091e-05	5.748e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.47e-05	0	0.0033	0.002	0.72154	D	0.001	0.83351	D	0.996	0.68779	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	0.995273	0.42618	D	1.84	0.48285	L	3.65	0.04267	T	-4.39	0.78046	D	0.754	0.75283	-1.2355	0.00021	T	0.037	0.15986	T	10	0.011714876	0.00255	T	0.006792	0.17953	T	0.228	0.52768	0.43	0.47843	0.331619326243	0.32766	0.6520677910569415	0.65142	0.4417022315	0.44153	0.868186175823	0.92308	D	0.160402	0.50424	T	-0.444035	0.01224	T	-0.413023	0.31877	T	0.140398492942416	0.16310	T	0.960604	0.85218	D	0.75837505	0.81357	0.6073475	0.77169	0.75837505	0.81359	0.6073475	0.77170	-4.862	0.35305	T	.	.	0.688	0.74435	P	.;.;.	.;.;.	3.513982	0.49220	22.7	0.99903033891818049	0.97426	0.92038	0.54807	D	AEFDGBI	0.542474	0.55820	D	0.614538908895502	0.74094	6.07456	0.61069232687739	0.75715	6.359837	0.98722347822292	0.31214	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.631631	0.49550	0	.	.	6.02	4.21	0.48984	1.218000	0.32071	0.270000	0.16646	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	1.000000	0.97212	0.0:0.854:0.0:0.146	11.952	0.52245	764	0.49969	.;Dedicator of cytokinesis, C-terminal;Dedicator of cytokinesis, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr2	224796988	.	C	A	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.302;DP=705;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=2.02;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr2	224876067	224876067	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon8:c.G884A:p.R295K,DOCK10:NM_001363762:exon8:c.G941A:p.R314K,DOCK10:NM_014689:exon8:c.G902A:p.R301K	.	427	1080	14	1	0	16	0.00735294	.	.	.	2818983	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00369490155213	0.0026	0.00119808	0.0021	0.0028	0.0014	0	0.0008	0.0028	0.0011	0.0012	0.0021798	337	154602	rs180691490	0.0020	0.0020	0.0020	0.0020	0.0099	0.0019	0.0019	0.0078	0.0071	0.0022	0.0027	0.0040	0	0.0003	0.0099	0.0021	0.0026	0.0008	0.0025	0.0025	0.0026	0.0024	0.0042	0.0023	0.0022	0.0034	0.0031	0.0019	0	0.0042	0.0029	0	0.0002	0.0102	0.0030	0.0033	0.0008	0.654	0.04786	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.089059	0.998972	0.21747	N	-0.895	0.01383	N	4.04	0.03121	T	0.18	0.07444	N	0.066	0.04307	-0.9096	0.46904	T	0.004	0.01261	T	10	0.0065520704	0.00148	T	0.003695	0.08527	T	0.101	0.28911	.	.	0.337621943819	0.33374	0.23291971021446928	0.23206	0.156396254559	0.17651	0.335184276104	0.15715	T	0.016191	0.13433	T	-0.675256	0.00051	T	-0.745785	0.03652	T	0.0115443909339612	0.00174	T	0.776822	0.40920	T	0.057521734	0.11460	0.044186946	0.05669	0.057521734	0.11459	0.044186946	0.05669	-1.975	0.03363	T	.	.	0.065	0.02861	B	.;.;.	.;.;.	1.613232	0.20610	14.83	0.54172775093694581	0.05085	0.60802	0.31300	D	AEFDGBHCI	0.145618	0.26887	N	-0.492230622636038	0.22334	1.191879	-0.259131156653793	0.29459	1.650561	0.999991894807102	0.74766	0.732398	0.92422	0	0.648423	0.57943	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	5.76	3.7	0.41607	4.795000	0.62183	2.238000	0.31588	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.582000	0.30943	0.0:0.5068:0.0:0.4932	4.155	0.09720	893	0.26510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009082	0.000000	0.014946	0.005882	0.000000	0.017241	0.009202	0.003788	0.02632	588.33	33	chr2	224876067	.	C	T	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=678;ExcessHet=0;FS=4.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=2.67;SOR=0.264	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	18	0	1	0
chr2	224886119	224886119	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon6:c.G538A:p.G180S,DOCK10:NM_001363762:exon6:c.G595A:p.G199S,DOCK10:NM_014689:exon6:c.G556A:p.G186S	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.0972429376915	.	.	1.659e-05	0	8.673e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs776429569	1.916e-05	1.984e-05	2.178e-05	1.65e-05	0.0001	1.328e-05	1.144e-05	7.997e-05	6.236e-05	0	2.237e-05	0	0	0	0	1.349e-05	0	0.0001	2.632e-05	2.627e-05	1.286e-05	4.043e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.57	0.93460	H	-0.79	0.73739	T	-4.38	0.77143	D	0.81	0.81162	0.634	0.92341	D	0.715	0.90210	D	10	0.9655412	0.96030	D	0.097243	0.76739	D	0.749	0.91371	0.923	0.98673	0.877379728821	0.87618	0.6675988601219017	0.66697	0.658221441278	0.58738	0.732056736946	0.71807	T	0.57063	0.85777	D	0.0524778	0.58660	T	0.0742728	0.75195	D	0.887014865875244	0.53748	D	0.979822	0.93110	D	0.53006166	0.68834	0.43106875	0.66736	0.53006166	0.68835	0.43106875	0.66736	-8.635	0.65988	D	.	.	0.812	0.81422	P	.;.;.	.;.;.	4.961046	0.82032	27.7	0.99894225535719594	0.96742	0.94291	0.60700	D	ALL	0.922794	0.89829	D	1.02737079262625	0.96526	14.80305	0.954062523085229	0.97525	16.27756	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	7.905000	0.86479	6.013000	0.52675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.647	0.95779	878	0.29785	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2538.83	34	chr2	224886119	.	C	T	2538.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=1055;ExcessHet=0.119;FS=0.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.654;SOR=0.628	GT:AD:DP:GQ:PL	0/1:72,50:122:99:1151,0,1715	17	0	2	0
chr2	224886510	224886510	C	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon5:c.G420T:p.K140N,DOCK10:NM_001363762:exon5:c.G477T:p.K159N,DOCK10:NM_014689:exon5:c.G438T:p.K146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0341860904586	0.0027	0.00239617	0.0007	0.0088	8.945e-05	0	0	0	0	0	0.0006792	105	154602	rs140831525	0.0002	0.0002	0.0003	0.0002	0.0094	0.0002	0.0002	0.0086	0.0083	0.0094	0.0003	0	0	0	0.0002	1.8e-06	0.0004	0	0.0025	0.0025	0.0026	0.0024	0.0088	0.0023	0.0022	0.0081	0.0078	0.0088	0	0.0009	0	0	0	0	2.945e-05	0	0	0.021	0.49117	D	0.075	0.45318	T	0.947	0.53479	P	0.711	0.54536	P	0.000001	0.84330	D	0.094573	0.981394	0.39772	D	2.415	0.69758	M	0.69	0.51714	T	-2.32	0.53096	N	0.438	0.50958	-0.6659	0.62013	T	0.191	0.54242	T	10	0.00823158	0.00187	T	0.034186	0.55504	D	0.217	0.51112	0.311	0.28451	0.588891999268	0.58564	0.35871174781886783	0.35785	0.561225617221	0.52626	0.654471039772	0.60621	T	0.150762	0.49039	T	-0.47056	0.00843	T	-0.442871	0.28487	T	0.0852691974348321	0.10647	T	0.915608	0.69895	D	0.5136367	0.67892	0.18863954	0.42165	0.5136367	0.67893	0.18863954	0.42165	-5.215	0.39336	T	.	.	0.590	0.70747	P	.;.;.	.;.;.	3.362315	0.46425	22.3	0.99743432416899025	0.83703	0.82980	0.42139	D	AEFDGBCIJ	0.645320	0.62126	D	0.371138825972088	0.59862	4.169502	0.35175928578643	0.58615	4.032944	0.999999998808905	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.547309	0.15389	0	0.677038	0.66255	0	.	.	5.69	4.55	0.55429	3.889000	0.55925	1.554000	0.27312	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1544:0.0:0.8456	8.343	0.31416	878	0.29785	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1074.33	33	chr2	224886510	.	C	A	1074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=720;ExcessHet=0;FS=4.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.508;SOR=0.354	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	18	0	1	0
chr2	225513525	225513525	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G376A:p.G126S,NYAP2:NM_001371273:exon4:c.G376A:p.G126S	.	428	1066	23	5	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00559105	0.0070	0.0131	0.0036	0	0.0015	0.0095	0.0068	0.0013	0.0064488	997	154602	rs61752215	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0105	0.0042	0.0572	2.52e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0083	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0044	0.0550	0	0.0016	0.0170	0.0066	0.0067	0.0010	1.0	0.00964	T	0.985	0.02393	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.955	0.23872	L	1.28	0.35960	T	0.06	0.06253	N	0.839	0.83473	-1.0657	0.10386	T	0.098	0.36548	T	10	0.0072583854	0.00165	T	.	.	.	0.271	0.58633	.	.	0.043077524339	0.03247	0.19063985266315145	0.18981	0.340736581271	0.36013	0.712054312229	0.68891	T	0.004777	0.04195	T	-0.423853	0.01617	T	-0.371224	0.36745	T	0.0854194623662757	0.10666	T	0.791221	0.43226	T	0.1879688	0.40274	0.24215227	0.49630	0.1879688	0.40274	0.24215227	0.49628	2.523	0.00032	T	.	.	0.148	0.32804	B	.;.	.;.	3.433565	0.47730	22.5	0.98737237100527531	0.45452	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.355289609203242	0.59019	4.078083	0.363728750906551	0.59340	4.110883	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.02632	3950.33	34	chr2	225513525	.	G	A	3950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.274;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1327:.	18	0	1	0
chr2	225513526	225513526	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G377A:p.G126D,NYAP2:NM_001371273:exon4:c.G377A:p.G126D	.	426	1068	23	5	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	.	0.0088	0.00539137	0.0070	0.0131	0.0033	0	0.0015	0.0095	0.0068	0.0013	0.0064229	993	154602	rs61753537	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0106	0.0040	0.0572	2.521e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0082	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0042	0.0550	0	0.0016	0.0170	0.0066	0.0066	0.0010	0.152	0.24468	T	0.627	0.07267	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.94	0.43672	T	-2.32	0.51478	N	0.91	0.91162	-0.8570	0.51477	T	0.185	0.53376	T	10	0.007973403	0.00181	T	.	.	.	0.303	0.62400	.	.	0.102598925029	0.09809	0.2733870242097265	0.27251	0.672938121939	0.59561	0.790424525738	0.80507	T	0.086051	0.37638	T	-0.3985	0.02369	T	-0.334806	0.40931	T	0.0451339892480626	0.04626	T	0.947205	0.79675	D	0.39915887	0.60674	0.43386617	0.66925	0.39915887	0.60675	0.43386617	0.66925	-6.284	0.48595	T	.	.	0.788	0.76741	P	.;.	.;.	4.722858	0.75993	26.4	0.9982111281595506	0.90414	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.568793636542226	0.71232	5.619923	0.516089587561411	0.69071	5.308454	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.02632	3950.33	34	chr2	225513526	.	G	A	3950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.307;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1327:.	18	0	1	0
chr2	225582058	225582058	A	G	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.A641G:p.K214R,NYAP2:NM_001371273:exon5:c.A641G:p.K214R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0115198083064	0.0002	.	0.0002	0	0	0	0	9.013e-05	0	0.0013	0.0002005	31	154602	rs377255280	0.0002	0.0002	0.0001	0.0002	0.0057	0.0001	0.0001	0.0042	0.0037	2.987e-05	0	0	0	0	0.0057	4.407e-05	0.0002	0.0017	0.0001	0.0001	8.99e-05	0.0001	0.0023	7.084e-05	5.741e-05	0.0013	0.0010	0	0	0	0	0	0	0	8.819e-05	0	0.0023	0.446	0.09101	T	0.521	0.10429	T	0.999	0.77913	D	0.994	0.82059	D	0.000086	0.51296	D	0.169857	0.902278	0.81001	D	1.235	0.30780	L	0.96	0.42888	T	-0.58	0.17417	N	0.177	0.19055	-0.9447	0.41863	T	0.169	0.50874	T	10	0.045532793	0.03636	T	0.01152	0.29227	T	0.116	0.32463	.	.	0.043077524339	0.03247	0.0507034753932133	0.05012	0.326667578844	0.34810	0.556968092918	0.46840	T	0.006561	0.05989	T	-0.534802	0.00360	T	-0.576361	0.14871	T	0.190819540770534	0.19893	T	0.728227	0.34274	T	0.08178637	0.18810	0.09237101	0.21765	0.08178637	0.18809	0.09237101	0.21765	-3.196	0.12432	T	.	.	0.085	0.10111	B	.;.	.;.	2.112540	0.26887	17.27	0.99689580134390254	0.79842	0.86389	0.45659	D	AEFI	0.250954	0.37091	N	0.41313692775845	0.62143	4.42559	0.423222441198756	0.63015	4.527162	0.00718479383067404	0.11405	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	4.75	0.59954	5.002000	0.63701	2.705000	0.34191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.932:0.0:0.068:0.0	11.821	0.51512	691	0.58815	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2343.33	35	chr2	225582058	.	A	G	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=877;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.709;SOR=0.771	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1425	18	0	1	0
chr2	225582978	225582978	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.G1561A:p.G521S,NYAP2:NM_001371273:exon5:c.G1561A:p.G521S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.116999605156	0.0007	0.00119808	0.0005	0.0062	0.0003	0	0	1.639e-05	0	0	0.0004075	63	154602	rs201097764	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0043	0.0051	0.0002	0	0	0	0.0003	5.398e-06	0.0003	0	0.0014	0.0014	0.0013	0.0015	0.0050	0.0013	0.0012	0.0044	0.0042	0.0050	0	0.0006	0	0	0	0	0	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	2.045	0.56016	M	-1.12	0.77593	T	-5.71	0.87457	D	0.871	0.86833	0.218	0.86222	D	0.615	0.86401	D	10	0.025979102	0.00776	T	0.117	0.79664	D	0.529	0.80128	.	.	0.427607127396	0.42382	0.3897268440950617	0.38887	1.08672446178	0.77311	0.77806520462	0.78637	T	0.228715	0.59434	T	0.0512422	0.58502	T	0.302334	0.88305	D	0.133943220210659	0.15741	T	0.885811	0.61165	D	0.8908619	0.90582	0.84096456	0.90902	0.8908619	0.90583	0.84096456	0.90902	-8.104	0.61778	D	.	.	0.561	0.67272	A	.;.	.;.	5.159114	0.86435	28.9	0.99799567407167078	0.88461	0.99806	0.99590	D	AEFI	0.948151	0.95947	D	0.606209510603926	0.73568	5.987236	0.509483105902731	0.68628	5.246209	0.999999965459307	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	9.602000	0.97623	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	19.710	0.96085	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1071.33	35	chr2	225582978	.	G	A	1071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=786;ExcessHet=0;FS=2.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.481;SOR=1.029	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1425	18	0	1	0
chr2	226796370	226796370	C	T	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G2369A:p.R790H	.	418	1103	1	0	0	1	0.000453104	.	.	.	2308000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0151257423453	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs778839568	1.369e-05	1.436e-05	1.226e-05	1.513e-05	4.637e-05	8.94e-06	7.27e-06	1.583e-05	9.3e-06	0	0	3.826e-05	0	0	0	1.349e-05	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.563	0.09022	T	0.999	0.77913	D	0.893	0.63340	P	0.000001	0.62929	D	0.000000	0.998662	0.45243	D	1.265	0.31966	L	0.33	0.58323	T	-0.82	0.22508	N	0.333	0.37405	-0.8245	0.53651	T	0.227	0.59171	T	10	0.43795776	0.57916	T	0.015126	0.35682	T	0.184	0.45763	0.419	0.46036	0.812021637403	0.81025	0.24032468463711382	0.23946	0.814713288017	0.66887	0.570031762123	0.48683	T	0.479229	0.80872	T	-0.019537	0.48920	T	-0.26584	0.48240	T	0.869446873664856	0.51938	D	0.79842	0.44325	T	0.1059952	0.25063	0.082194895	0.18740	0.1059952	0.25063	0.082194895	0.18740	-3.447	0.15697	T	.	.	0.086	0.10739	B	.	.	2.863955	0.37848	20.6	0.99923854928676237	0.98917	0.93385	0.58075	D	AEFDBCI	0.663696	0.63313	D	0.298075300736483	0.56050	3.769351	0.303034671978674	0.55717	3.734606	0.999999999997306	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.604944	0.38103	0	.	.	4.79	3.9	0.44240	4.096000	0.57463	3.324000	0.37570	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.8583:0.1417:0.0	15.167	0.72515	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1744.33	78	chr2	226796370	.	C	T	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=1157;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=2.6;SOR=0.569	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1371	18	0	1	0
chr2	226798535	226798535	G	C	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.C204G:p.S68R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.0828056793552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460898587	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.038	0.51421	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.15	0.60148	M	-1.01	0.76168	T	-2.02	0.46503	N	0.76	0.75834	0.199	0.85887	D	0.661	0.88239	D	10	0.8261662	0.81796	D	0.082806	0.73981	D	0.497	0.78163	0.277	0.23004	0.950855950807	0.95033	0.6539881204997464	0.65334	0.445220571064	0.44417	0.788699328899	0.80244	T	0.811607	0.95298	D	0.290264	0.82177	D	0.179167	0.81947	D	0.851495921611786	0.50296	D	0.977902	0.92154	D	0.5947141	0.72405	0.47901103	0.69823	0.5947141	0.72406	0.47901103	0.69823	-9.785	0.72613	D	.	.	0.954	0.87326	P	.	.	5.305772	0.89070	29.8	0.99796362974801589	0.88194	0.74770	0.36585	D	ALL	0.738307	0.68323	D	0.751998006077371	0.83036	7.912872	0.720510974675465	0.83938	8.154417	0.999999999999986	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	5.49	5.49	0.81022	4.808000	0.62274	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.335	0.94300	946	0.12043	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1847.33	35	chr2	226798535	.	G	C	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.061;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.28;SOR=0.661	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1371	18	0	1	0
chr2	227098696	227098696	G	A	exonic	COL4A4	.	nonsynonymous SNV	COL4A4:NM_000092:exon19:c.C1202T:p.A401V	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	0	1513	7	2	0	11	0.003622	0.8343	0.73	YES	496718	not_specified|Alport_syndrome|not_provided|Kidney_disorder	MedGen:CN169374|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.227	.	.	0.00319489	0.0030	0.0001	0.0002	0.0001	0	0.0003	0.0023	0.0202	0.0025291	391	154602	rs199581317	0.0012	0.0012	0.0007	0.0018	0.0182	0.0012	0.0012	0.0174	0.0171	8.965e-05	2.236e-05	0.0031	5.039e-05	0	0.0043	1.71e-05	0.0013	0.0182	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	0	0	0	0.0006	0	0	0	2.94e-05	0.0005	0.0172	0.334	0.12961	T	0.297	0.20551	T	0.005	0.12996	B	0.008	0.13708	B	.	.	.	.	0.99998	0.18612	N	0	0.06538	N	-3.28	0.93691	D	-1.19	0.30346	N	0.163	0.17140	-0.3370	0.73930	T	0.675	0.88751	D	9	0.008965433	0.00203	T	.	.	.	0.227	0.52620	.	.	0.612470515539	0.60935	0.16943269369724265	0.16863	0.573937016384	0.53438	0.334677904844	0.15639	T	0.369343	0.73407	T	-0.383068	0.02979	T	-0.308091	0.43864	T	0.0231892007287518	0.01046	T	0.216378	0.02701	T	0.054112643	0.10336	0.0782109	0.17497	0.054112643	0.10336	0.0782109	0.17497	-1.711	0.02258	T	0.13748597104781216	0.15132	0.084	0.09530	B	.	.	3.275365	0.44858	22.0	0.99826748803389598	0.90939	0.40419	0.26432	N	AEFI	0.103564	0.20745	N	-0.328326831787421	0.28076	1.54563	-0.226970553168699	0.30574	1.722628	2.5949837220943E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	2.38	0.28415	1.997000	0.40406	4.789000	0.44887	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.924000	0.46004	0.1924:0.0:0.6421:0.1654	5.399	0.15586	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.011364	0.02632	908.33	39	chr2	227098696	.	G	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.398;DP=717;ExcessHet=0;FS=8.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.354;SOR=1.6	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	227280446	227280446	C	G	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon30:c.C2230G:p.P744A	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.112548006601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.159	0.31527	T	1.0	0.90584	D	0.999	0.92359	D	0.001642	0.38382	N	0.117523	0.99981	0.49394	D	2.605	0.76211	M	-3.19	0.93170	D	-3.32	0.66085	D	0.433	0.47208	0.787	0.94251	D	0.851	0.95046	D	10	0.51926994	0.62547	D	0.112548	0.79073	D	0.426	0.73372	0.295	0.25881	0.869132158565	0.86785	0.16832599828363334	0.16752	0.182580710226	0.20522	0.363789856434	0.19936	T	0.64456	0.89140	D	0.144997	0.68798	D	-0.029498	0.68403	D	0.94807493686676	0.62817	D	0.357364	0.08134	T	0.13398781	0.31147	0.15862918	0.37035	0.13398781	0.31147	0.15862918	0.37035	-6.162	0.47615	T	0.3461271271266906	0.44362	0.071	0.03736	B	.	.	3.817139	0.55095	23.6	0.98760811083966094	0.45816	0.95768	0.66071	D	AEFBI	0.311364	0.41711	N	0.598507256446517	0.73081	5.908256	0.58601283564483	0.73934	6.052696	0.418204745368907	0.20269	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	3.553000	0.53459	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.732	0.77574	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1316.33	35	chr2	227280446	.	C	G	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=729;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.41;SOR=0.514	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1330,0,1360	18	0	1	0
chr2	227290795	227290795	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.G3119C:p.R1040T	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3845654	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0626756258039	.	0.000199681	8.368e-06	0	8.714e-05	0	0	0	0	0	1.29e-05	2	154602	rs187864249	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0001	2.36e-06	1.7e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.613	0.05567	T	0.43	0.13713	T	0.007	0.14184	B	0.007	0.12992	B	0.142887	0.18229	N	0.554792	0.913764	0.27449	N	-0.09	0.04745	N	-3.35	0.94022	D	-0.91	0.24460	N	0.261	0.29544	-0.4516	0.70348	T	0.569	0.84399	D	10	0.062354624	0.07959	T	0.062676	0.68726	D	0.220	0.51569	.	.	0.737894262927	0.73554	0.2737578506257544	0.27288	0.278499169253	0.30333	0.290980368853	0.09064	T	0.391941	0.75174	T	-0.103614	0.35826	T	-0.210764	0.53623	T	0.0512844324111938	0.05724	T	0.653935	0.28269	T	0.1401483	0.32346	0.061159924	0.11765	0.1401483	0.32346	0.061159924	0.11765	-3.479	0.16139	T	0.12110335199337476	0.11458	0.090	0.48978	B	.;.	.;.	1.794073	0.22807	15.77	0.73085365237829358	0.10201	0.55893	0.29979	D	AEFDI	0.135999	0.25651	N	-0.433467824330809	0.24303	1.311349	-0.276661272130024	0.28868	1.612967	0.00169053823228202	0.08780	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	2.8	0.31881	-0.237000	0.09007	3.299000	0.37367	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.995000	0.73285	0.0786:0.2873:0.4859:0.1482	4.516	0.11342	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1691.33	33	chr2	227290795	.	G	C	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=772;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.675;SOR=0.52	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr2	227330847	227330847	-	AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	splicing	MFF	NM_001277062:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277061:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277063:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277066:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277065:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277064:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_020194:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277068:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277067:exon3:c.31+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	429	1076	16	0	1	17	0.00738007	.	.	.	1919999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0	0	0	0.0002	0	0.0002	3.84e-05	1	26028	.	0.0001	0.0003	0.0001	0.0001	0.0007	0.0001	0.0001	0.0004	0.0004	0.0007	8.953e-05	0.0003	0.0002	0.0001	0.0002	9.738e-05	0.0002	0.0003	8.577e-05	0.0006	7.749e-05	9.442e-05	0.0001	4.977e-05	3.978e-05	4.765e-05	3.07e-05	0.0001	0	6.551e-05	0.0003	0	9.466e-05	0	7.371e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	700.79	41	chr2	227330847	.	G	GAAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	700.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.84;DP=1333;ExcessHet=0.119;FS=11.381;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-10.44;QD=1.18;ReadPosRankSum=-3.93;SOR=2.07	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1378	17	0	2	0
chr2	227340380	227340380	-	ACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	exonic	MFF	.	frameshift insertion	MFF:NM_001277066:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28,MFF:NM_001277068:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.A148Pfs*62,MFF:NM_001277062:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.V148Pfs*23,MFF:NM_001277063:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W148Pfs*53,MFF:NM_001277064:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.G169Dfs*27,MFF:NM_001277065:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28,MFF:NM_001277067:exon5:c.290_291insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.V98Pfs*23,MFF:NM_001277061:exon6:c.518_519insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W174Pfs*48,MFF:NM_020194:exon6:c.518_519insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W174Pfs*48	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0003	9.022e-05	8.504e-05	0.0002	0.0002	0.0003	0.0001	0.0005	0	0.0001	0.0002	7.315e-05	0.0001	0.0003	3.292e-05	0.0010	3.865e-05	2.692e-05	7.268e-05	1.263e-05	7.99e-06	1.927e-05	1.034e-05	7.268e-05	0	6.539e-05	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	55.29	36	chr2	227340380	.	T	TACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	55.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=781;ExcessHet=0;FS=1.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.33;MQRankSum=-7.029;QD=1.08;ReadPosRankSum=2.14;SOR=0.914	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.05263	2256.83	35	chr2	227363746	.	T	G	2256.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.366;DP=829;ExcessHet=0.119;FS=1.007;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.397;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	17	0	2	0
chr2	227366246	227366246	T	C	splicing	TM4SF20	NM_024795:exon3:c.250-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.944	.	3526032	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.343e-05	0	0	0	0	6.071e-05	0	0	2.59e-05	4	154602	rs770367143	1.098e-05	1.231e-05	1.639e-05	5.521e-06	2.524e-05	6.5e-06	5.26e-06	3e-07	1.1e-07	0	0	0.0003	2.524e-05	0	0	1.801e-06	4.991e-05	1.175e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0006	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123351	0.66706	D	0.111866	0.77696	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.259032	0.88304	29.5	0.99225241037378831	0.56026	0.91687	0.54051	D	AEFBI	.	.	.	0.982771929793471	0.95190	13.38998	0.817429193746579	0.90977	10.65944	0.99999985413566	0.74766	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.062806	0.01542	0	0.961844	0.66244	6.03	6.03	0.97798	4.049000	0.57110	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:0.0:1.0	12.95	0.57792	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	933.33	34	chr2	227366246	.	T	C	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.77;DP=723;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.791;SOR=0.919	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	227981848	227981848	C	G	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_030623:exon11:c.G4885C:p.V1629L,SPHKAP:NM_001142644:exon12:c.G4972C:p.V1658L	.	427	1087	7	1	0	9	0.00412277	.	.	.	708087	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0068	0.00459265	0.0081	0.0018	0.0133	0.0077	0.0014	0.0093	0.0067	0.0063	0.0079106	1223	154602	rs61755300	0.0087	0.0088	0.0089	0.0086	0.0109	0.0086	0.0086	0.0101	0.0098	0.0019	0.0109	0.0041	0.0098	0.0024	0.0094	0.0096	0.0073	0.0053	0.0066	0.0066	0.0063	0.0068	0.0099	0.0062	0.0061	0.0093	0.0090	0.0016	0	0.0080	0.0029	0.0098	0.0020	0.0204	0.0099	0.0109	0.0048	0.136	0.26085	T	0.291	0.21078	T	0.998	0.73220	D	0.985	0.76457	D	0.000801	0.41658	D	0.205096	0.987618	0.40620	D	2.155	0.60227	M	3.31	0.06291	T	-0.82	0.22508	N	0.448	0.48872	-1.1503	0.01016	T	0.021	0.08778	T	10	0.0047121346	0.00099	T	.	.	.	0.081	0.23632	0.392	0.41606	0.137902524267	0.13322	0.5567947757542651	0.55606	0.120133638722	0.13532	0.539786577225	0.44415	T	0.048169	0.27938	T	-0.388351	0.02756	T	-0.318939	0.42692	T	0.0196398308161504	0.00667	T	0.861114	0.55479	D	0.2723998	0.50309	0.14320236	0.34041	0.2723998	0.50309	0.14320236	0.34040	-2.656	0.07062	T	.	.	0.679	0.72099	P	.;.	.;.	3.974095	0.58372	24.0	0.99187957098449708	0.54877	0.93310	0.57875	D	AEFBI	0.589192	0.58617	D	0.447848538271241	0.64080	4.654816	0.523444404221448	0.69570	5.379431	0.0475069569526591	0.14733	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	3.581000	0.53658	4.873000	0.45587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.9243:0.0:0.0757	12.460	0.55063	839	0.37672	A-kinase anchor 110kDa, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.010870	0.014620	0.050000	0.000000	0.009146	0.007576	0.02632	518.33	34	chr2	227981848	.	C	G	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=676;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.439;SOR=0.406	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr2	227991324	227991324	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_030623:exon9:c.A4637G:p.E1546G,SPHKAP:NM_001142644:exon10:c.A4724G:p.E1575G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0141436157675	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775285111	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.265	0.30729	T	0.999	0.77913	D	0.987	0.77487	D	0.000188	0.48115	D	0.211461	0.999274	0.46519	D	2.34	0.67151	M	2.54	0.14038	T	-2.62	0.56301	D	0.8	0.79599	-1.1381	0.01431	T	0.084	0.32957	T	10	0.45756817	0.60980	T	0.014144	0.34055	T	0.198	0.48105	0.13	0.03494	0.282179105231	0.27821	0.3778589115104448	0.37700	0.338184895751	0.35792	0.504336535931	0.39432	T	0.072586	0.34489	T	-0.0655294	0.42039	T	-0.0576052	0.66499	T	0.899531424045563	0.55186	D	0.807619	0.45757	T	0.23494582	0.46323	0.36314553	0.61707	0.23494582	0.46323	0.36314553	0.61706	-4.183	0.29733	T	.	.	0.155	0.39116	B	.;.	.;.	4.671723	0.74675	26.2	0.99871696232683449	0.94902	0.97047	0.72382	D	AEI	0.806233	0.73060	D	0.678979606982518	0.78254	6.834861	0.695249350117776	0.82015	7.664195	0.119569880501902	0.16847	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	5.175000	0.64857	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.329	0.66103	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	33	chr2	227991324	.	T	C	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.993;DP=809;ExcessHet=0;FS=1.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.2;SOR=0.521	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr2	229231960	229231960	C	G	exonic	PID1	.	nonsynonymous SNV	PID1:NM_001330156:exon1:c.G95C:p.R32P	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.000864691568323	.	0.00279553	0.0038	0.0011	0.0068	0	0	0.0071	0.0065	0.0020	0.0006145	95	154602	rs540348737	0.0033	0.0032	0.0033	0.0034	0.0065	0.0033	0.0032	0.0048	0.0045	0.0005	0.0053	0.0104	0	0.0006	0.0065	0.0035	0.0042	0.0013	0.0031	0.0031	0.0033	0.0029	0.0078	0.0029	0.0028	0.0066	0.0062	0.0007	0	0.0078	0.0089	0	0.0003	0.0068	0.0039	0.0100	0.0006	0.123	0.27544	T	0.264	0.22761	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.144	0.14480	-1.0300	0.20454	T	0.055	0.23300	T	6	0.0064780414	0.00147	T	8.65E-4	0.00755	T	0.102	0.29158	.	.	0.0806252709748	0.07271	0.66059101479111	0.65996	.	.	.	.	.	0.030096	0.21412	T	-0.524812	0.00412	T	-0.525542	0.19735	T	0.000870357677529826	0.00008	T	0.357964	0.08163	T	0.14444602	0.33156	0.13237602	0.31767	0.14444602	0.33155	0.13237602	0.31766	-3.517	0.16671	T	.	.	0.217	0.44630	B	.	.	-0.503672	0.01855	0.150	0.6524991073089258	0.07720	0.00785	0.03216	N	AEFBI	0.092815	0.18786	N	-0.971765390163869	0.09211	0.4349701	-1.10014220486402	0.07698	0.3754756	0.00366813902409609	0.10226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.928	0.928	0.18569	-0.298000	0.08302	-1.985000	0.04389	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.156	0.14363	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1728.33	35	chr2	229231960	.	C	G	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=790;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.58;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,109,1328:.	18	0	1	0
chr2	229859051	229859051	C	T	exonic	TRIP12	.	nonsynonymous SNV	TRIP12:NM_001284215:exon3:c.G622A:p.A208T,TRIP12:NM_001348316:exon3:c.G622A:p.A208T,TRIP12:NM_001348317:exon3:c.G622A:p.A208T,TRIP12:NM_001348318:exon3:c.G622A:p.A208T,TRIP12:NM_001348331:exon3:c.G622A:p.A208T,TRIP12:NM_004238:exon3:c.G622A:p.A208T,TRIP12:NM_001284214:exon4:c.G748A:p.A250T,TRIP12:NM_001348315:exon4:c.G748A:p.A250T,TRIP12:NM_001348319:exon4:c.G748A:p.A250T,TRIP12:NM_001348320:exon4:c.G748A:p.A250T,TRIP12:NM_001348321:exon4:c.G748A:p.A250T,TRIP12:NM_001348323:exon4:c.G748A:p.A250T,TRIP12:NM_001348324:exon4:c.G748A:p.A250T,TRIP12:NM_001348326:exon4:c.G748A:p.A250T,TRIP12:NM_001348327:exon4:c.G748A:p.A250T,TRIP12:NM_001348328:exon4:c.G748A:p.A250T,TRIP12:NM_001348329:exon4:c.G748A:p.A250T,TRIP12:NM_001348330:exon4:c.G748A:p.A250T,TRIP12:NM_001348332:exon4:c.G748A:p.A250T,TRIP12:NM_001348333:exon4:c.G748A:p.A250T,TRIP12:NM_001348334:exon4:c.G748A:p.A250T,TRIP12:NM_001348335:exon4:c.G748A:p.A250T,TRIP12:NM_001348336:exon4:c.G748A:p.A250T,TRIP12:NM_001348322:exon5:c.G748A:p.A250T,TRIP12:NM_001348325:exon5:c.G748A:p.A250T	.	419	1097	4	2	0	8	0.00363306	.	.	.	1333025	not_provided|Clark-Baraitser_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0030914,MedGen:C2931130,OMIM:617752,Orphanet:600731|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00805348452219	.	0.000199681	0.0001	0	0	0	0	1.499e-05	0	0.0009	0.0001229	19	154602	rs539119124	9.645e-05	9.645e-05	5.717e-05	0.0001	0.0012	8.309e-05	7.849e-05	0.0010	0.0009	0	0	0	0	0	0.0007	2.428e-05	0.0001	0.0012	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.152	0.34800	T	0.356	0.26631	T	0.0	0.02946	B	0.0	0.01387	B	0.000873	0.41335	N	0.165039	0.993204	0.81001	D	0.345	0.11182	N	0.78	0.49358	T	0.18	0.34795	N	0.131	0.15888	-1.0834	0.06702	T	0.068	0.27980	T	10	0.020144016	0.00459	T	0.008053	0.21342	T	0.037	0.09474	0.196	0.10839	0.280695755116	0.27685	0.09470516669658194	0.09402	0.651620842457	0.58389	0.53727221489	0.44061	T	0.020514	0.16136	T	-0.440874	0.01278	T	-0.46241	0.26338	T	0.0455157934942267	0.04695	T	0.828317	0.52334	T	0.028537812	0.02207	0.05179657	0.08407	0.02893089	0.02306	0.065473944	0.13273	-3.625	0.18715	T	.	.	0.071	0.04396	B	.;.;.;.	.;.;.;.	2.529308	0.32697	19.12	0.99886402022613341	0.96126	0.92744	0.56440	D	AEFBI	0.316424	0.42072	N	-0.361360500236459	0.26857	1.469012	-0.145114360072523	0.33595	1.923458	0.999575408551533	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	4.71	0.59010	1.817000	0.38640	2.554000	0.33279	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8975:0.0:0.1025	12.058	0.52846	876	0.30350	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr2	229859051	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.457;DP=707;ExcessHet=0;FS=6.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.595;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1378	18	0	1	0
chr2	230046653	230046653	G	A	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon4:c.C473T:p.A158V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0751462307587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.111	0.37173	T	0.234	0.43716	B	0.152	0.45921	B	0.000269	0.46590	D	0.094162	0.99996	0.52935	D	2.595	0.75868	M	-1.57	0.81900	D	-3.36	0.66549	D	0.777	0.77413	0.121	0.84556	D	0.539	0.82999	D	10	0.73142123	0.74324	D	0.075146	0.72216	D	0.634	0.85975	0.745	0.87654	0.713815690768	0.71130	0.6616692867895871	0.66103	1.16483280756	0.79586	0.729648530483	0.71455	T	0.495862	0.81840	T	0.192465	0.73190	D	0.0386856	0.72841	D	0.986987113952637	0.77573	D	0.908309	0.67561	D	0.42611185	0.62496	0.3059564	0.56621	0.42611185	0.62497	0.3059564	0.56620	-8.464	0.64191	D	.	.	0.766	0.75731	P	.;.;.	.;.;.	4.482429	0.69953	25.4	0.99906889127012632	0.97726	0.97110	0.72748	D	AEFDBI	0.582800	0.58227	D	0.350791161655516	0.58781	4.052594	0.432512986036819	0.63602	4.597223	0.960434248405783	0.28488	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	4.073000	0.57290	11.340000	0.92555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.358	0.90305	952	0.10565	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3001.83	36	chr2	230046653	.	G	A	3001.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.243;DP=875;ExcessHet=0.119;FS=0.489;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.71;SOR=0.76	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1760,0,2271	17	0	2	0
chr2	230392096	230392096	C	T	exonic	SP140L	.	nonsynonymous SNV	SP140L:NM_001308163:exon10:c.C794T:p.A265V,SP140L:NM_001352894:exon10:c.C794T:p.A265V,SP140L:NM_001308162:exon11:c.C899T:p.A300V,SP140L:NM_001352893:exon11:c.C869T:p.A290V,SP140L:NM_001352892:exon12:c.C974T:p.A325V,SP140L:NM_138402:exon12:c.C974T:p.A325V	.	426	1093	2	0	1	3	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0063	0.00698882	0.0022	0.0239	0.0014	0	0	0.0001	0.0022	0.0002	0.0020246	313	154602	rs145339453	0.0007	0.0007	0.0008	0.0006	0.0235	0.0007	0.0007	0.0222	0.0216	0.0235	0.0015	0	0	0	0.0021	5.397e-05	0.0016	6.956e-05	0.0068	0.0068	0.0069	0.0068	0.0228	0.0065	0.0063	0.0216	0.0211	0.0228	0	0.0044	0	0	0	0	5.883e-05	0.0095	0	1.0	0.13131	T	1.0	0.19480	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.915	0.00232	N	-0.47	0.72568	T	1.09	0.49018	N	0.035	0.13198	-1.0070	0.27850	T	0.028	0.12058	T	9	0.008670807	0.00196	T	.	.	.	0.034	0.08419	.	.	0.16115917748	0.15686	0.06319088419212764	0.06258	0.0574924983243	0.06368	0.251217365265	0.03897	T	0.055544	0.50181	T	-0.610534	0.00126	T	-0.631513	0.10301	T	0.000728469967532468	0.00007	T	0.0523948	0.00375	T	0.014533886	0.00097	0.028864464	0.01164	0.014533886	0.00097	0.028864464	0.01164	0.277	0.00264	T	.	.	0.066	0.17189	B	.;.;.;.	.;.;.;.	-1.208368	0.00522	0.012	0.12215511254036035	0.00206	0.00188	0.01093	N	AEFBI	0.014226	0.00218	N	-1.80328977363254	0.00537	0.02312534	-1.76864528162402	0.00865	0.03866182	0.00759445606339083	0.11502	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	3.16	-2.67	0.05703	-1.754000	0.01915	-8.287000	0.00995	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4199:0.2495:0.0:0.3306	2.707	0.04844	958	0.09170	.;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2575.33	38	chr2	230392096	.	C	T	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=1348;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=-1.432;QD=12.56;ReadPosRankSum=-0.167;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1290:.	18	0	1	0
chr2	230996243	230996243	G	C	exonic	SPATA3	.	nonsynonymous SNV	SPATA3:NM_139073:exon1:c.G10C:p.V4L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00363599915461	0.0004	.	0.0002	0	0	0	0	0.0004	0	0.0001	5.17e-05	8	154602	rs367718469	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0	8.432e-05	3.982e-05	0	2.032e-05	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.118e-05	5.77e-05	0.0001	9.922e-05	4.843e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.202	0.20230	T	0.231	0.25670	T	.	.	.	.	.	.	0.573976	0.11210	N	0.724708	0.502834	0.31755	D	0.695	0.17993	N	.	.	.	-1.45	0.35597	N	0.079	0.15187	-0.9020	0.47782	T	0.115	0.40853	T	7	0.07166505	0.10596	T	0.003636	0.08340	T	0.089	0.25827	.	.	0.201204373187	0.19734	0.08290281177807934	0.08225	.	.	0.394769817591	0.24340	T	0.00412	0.03532	T	-0.423236	0.01632	T	-0.549534	0.17370	T	0.123570643365383	0.14776	T	0.525647	0.17608	T	0.12940696	0.30225	0.14315352	0.34031	0.12940696	0.30225	0.14315352	0.34030	-2.61	0.06580	T	.	.	0.543	0.68391	A	.;.;.;.;.	.;.;.;.;.	2.224933	0.28394	17.78	0.99526420824270012	0.69591	0.88935	0.49110	D	AEFDBI	0.352871	0.44548	N	0.0291678673271057	0.43184	2.616438	0.0565020498278843	0.42386	2.562897	0.999957600431202	0.48110	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.85	3.85	0.43556	2.378000	0.43964	5.552000	0.48896	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.0:1.0:0.0	11.569	0.50076	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2883.33	48	chr2	230996243	.	G	C	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.497;DP=1144;ExcessHet=0;FS=3.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.575;SOR=0.46	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr2	231108575	231108575	G	A	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.C1388T:p.T463M,HTR2B:NM_001320758:exon4:c.C1262T:p.T421M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0635161757872	0.0002	.	0.0002	0.0002	0	0	0	3.014e-05	0	0.0011	0.0001423	22	154602	rs150480687	8.484e-05	8.482e-05	4.085e-05	0.0001	0.0011	7.21e-05	6.798e-05	0.0009	0.0009	0	0	3.827e-05	5.044e-05	3.746e-05	0.0002	1.889e-05	3.312e-05	0.0011	5.917e-05	5.911e-05	8.997e-05	2.692e-05	0.0001	3.079e-05	2.211e-05	4.741e-05	3.054e-05	0.0001	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-0.05	0.63403	T	-1.09	0.28290	N	0.657	0.66700	-0.2269	0.76969	T	0.439	0.77777	T	10	0.46060538	0.59260	T	0.063516	0.68991	D	0.221	0.51721	.	.	0.953414758104	0.95291	0.65367113882847	0.65303	0.619759957096	0.56315	0.625450074673	0.56500	T	0.108363	0.42134	T	-0.105254	0.35553	T	0.0255931	0.71992	D	0.150209207389785	0.17120	T	0.943106	0.78551	D	0.37610415	0.59033	0.597928	0.76650	0.37610415	0.59033	0.597928	0.76651	-6.043	0.46637	T	.	.	0.113	0.22171	B	.	.	4.716812	0.75825	26.4	0.99887992671217762	0.96281	0.98591	0.84452	D	AEFGBI	0.811386	0.73438	D	0.824214947209428	0.87595	9.272828	0.824142718106639	0.91421	10.87733	0.999999999676357	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	6.454000	0.73411	5.243000	0.48069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.279	0.98503	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	825.33	33	chr2	231108575	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=671;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.888;SOR=1.263	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr2	231108762	231108762	C	G	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.G1201C:p.A401P,HTR2B:NM_001320758:exon4:c.G1075C:p.A359P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0107490978324	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865839831	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0010	1.99e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.19225	T	0.148	0.32675	T	0.0	0.02946	B	0.002	0.06944	B	0.015550	0.28216	N	0.438760	1	0.30044	N	2.3	0.65703	M	1.25	0.36512	T	-0.37	0.13226	N	0.201	0.22228	-1.0500	0.14397	T	0.073	0.29610	T	10	0.14553341	0.27605	T	0.010749	0.27641	T	0.162	0.41843	0.558	0.67684	0.540062346617	0.53657	0.6489850348240542	0.64834	0.224907285127	0.25025	0.330766558647	0.15051	T	0.040672	0.25605	T	-0.12933	0.31603	T	-0.42355	0.30670	T	0.135751441121101	0.15904	T	0.812919	0.46506	T	0.07142994	0.15813	0.12929608	0.31092	0.07142994	0.15813	0.12929608	0.31091	-5.413	0.41044	T	.	.	0.094	0.14339	B	.	.	1.201739	0.15941	12.21	0.9761804795814939	0.34949	0.90642	0.51988	D	AEFBI	0.553206	0.56456	D	-0.473375758112996	0.22956	1.229367	-0.359051321061215	0.26230	1.44746	0.999877222834154	0.44625	0.562547	0.31514	0	0.546412	0.12157	0	0.572659	0.19721	0	0.635551	0.53088	0	.	.	5.9	4.11	0.47350	1.452000	0.34767	3.338000	0.37683	-0.182000	0.10109	0.878000	0.30948	0.998000	0.33993	0.412000	0.27050	0.0:0.7418:0.0:0.2582	8.185	0.30495	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2003.33	33	chr2	231108762	.	C	G	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.671;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.93;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr2	231206248	231206248	A	G	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon2:c.A10G:p.I4V,ARMC9:NM_001291656:exon2:c.A10G:p.I4V,ARMC9:NM_001352754:exon2:c.A10G:p.I4V,ARMC9:NM_001352755:exon2:c.A10G:p.I4V,ARMC9:NM_001352756:exon2:c.A10G:p.I4V,ARMC9:NM_001352757:exon2:c.A10G:p.I4V,ARMC9:NM_001352758:exon2:c.A10G:p.I4V,ARMC9:NM_001352759:exon2:c.A10G:p.I4V,ARMC9:NM_025139:exon2:c.A10G:p.I4V	.	432	1089	1	0	0	1	0.000458926	.	.	.	743537	ARMC9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0047	0.00539137	0.0014	0.0164	0.0005	0	0	0	0	0	0.0013325	206	154602	rs61753914	0.0004	0.0004	0.0005	0.0004	0.0162	0.0004	0.0004	0.0151	0.0146	0.0162	0.0004	0	0	0	0.0010	2.699e-06	0.0008	1.159e-05	0.0041	0.0041	0.0044	0.0039	0.0144	0.0039	0.0037	0.0134	0.0131	0.0144	0	0.0016	0	0.0002	0	0.0034	0	0.0014	0	0.483	0.08164	T	0.877	0.04066	T	0.001	0.07471	B	0.003	0.08700	B	0.002209	0.37012	N	0.257192	0.817034	0.28930	N	0.905	0.23240	L	2.36	0.40218	T	-0.11	0.09460	N	0.123	0.22486	-1.0143	0.25561	T	0.020	0.08546	T	10	0.0020937324	0.00030	T	.	.	.	0.014	0.01968	.	.	0.185906805712	0.18197	0.13180756973383317	0.13105	0.179767263721	0.20220	0.379405379295	0.22172	T	0.036773	0.24231	T	-0.616419	0.00116	T	-0.645246	0.09291	T	0.00636970114367593	0.00071	T	0.822518	0.48242	T	0.01653061	0.00204	0.047702957	0.06930	0.017665055	0.00292	0.05070128	0.08010	-3.566	0.17367	T	.	.	0.064	0.02518	B	.;.;.;.	.;.;.;.	0.300956	0.06766	3.283	0.84481597069505987	0.15317	0.11847	0.16900	N	AEFBI	0.057794	0.10795	N	-1.02849565665546	0.08016	0.3743895	-0.942931263289747	0.11088	0.5627166	0.991612459779635	0.32549	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.2	0.25	0.14795	0.353000	0.19868	0.550000	0.19412	0.756000	0.94297	0.052000	0.21487	0.003000	0.18671	0.941000	0.48210	0.684:0.0:0.316:0.0	8.630	0.33072	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001512	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1923.33	46	chr2	231206248	.	A	G	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.363;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.912;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1355	18	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del	.	403	1114	5	0	0	5	0.00223914	.	.	.	719700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005699	0.015152	0.001359	0.013986	0.000000	0.000000	0.009146	0.000000	0.02632	3349.29	33	chr2	231460685	.	TTCC	T	3349.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.897;DP=818;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=-1.196;SOR=0.553	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	231460727	231460727	-	TCG	exonic	NCL	.	nonframeshift insertion	NCL:NM_005381:exon4:c.752_753insCGA:p.D250_E251insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.12e-05	9.623e-05	0	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs752861959	5.893e-05	5.884e-05	5.728e-05	6.059e-05	7.208e-05	4.884e-05	4.503e-05	5.896e-05	5.461e-05	2.993e-05	0	0	0	0	0	7.208e-05	8.29e-05	0	3.943e-05	3.939e-05	3.857e-05	4.032e-05	0.0002	1.715e-05	1.129e-05	2.847e-05	1.859e-05	0	0	0	0	0.0002	0	0	7.354e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1416.29	33	chr2	231460727	.	T	TTCG	1416.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.753;DP=761;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.601;SOR=0.98	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	231593316	231593316	T	C	exonic	TEX44	.	nonsynonymous SNV	TEX44:NM_152614:exon1:c.T365C:p.V122A	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0059	0.00339457	0.0064	0.0010	0.0025	0	0.0018	0.0069	0.0055	0.0160	0.0061707	954	154602	rs148284031	0.0069	0.0069	0.0065	0.0072	0.0177	0.0067	0.0067	0.0170	0.0167	0.0008	0.0023	0.0187	2.519e-05	0.0014	0.0052	0.0066	0.0069	0.0177	0.0046	0.0046	0.0049	0.0042	0.0166	0.0043	0.0042	0.0137	0.0126	0.0011	0.0396	0.0024	0.0207	0	0.0007	0	0.0060	0.0047	0.0166	0.698	0.04200	T	0.822	0.03806	T	0.018	0.17786	B	0.018	0.18489	B	0.040679	0.01881	N	2.788130	1	0.08975	N	.	.	.	2.28	0.17271	T	-0.33	0.12472	N	0.02	0.00308	-1.0065	0.28004	T	0.011	0.04088	T	10	0.003635943	0.00066	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.033004459914763355	0.03248	0.385916819378	0.39884	.	.	.	0.002265	0.01662	T	-0.707435	0.00033	T	-0.775984	0.02577	T	0.000997550479526504	0.00010	T	0.214779	0.02659	T	0.015386248	0.00136	0.02219863	0.00250	0.015386248	0.00136	0.02219863	0.00249	-2.61	0.06580	T	.	.	0.127	0.27069	B	.	.	-0.642433	0.01460	0.089	0.52680109740977787	0.04794	0.00838	0.03362	N	AEFBI	0.020522	0.00818	N	-1.71499427806288	0.00790	0.03412661	-1.7970231199847	0.00769	0.03428198	0.669869460002155	0.22363	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.82	-7.63	0.01150	-0.407000	0.07240	-0.475000	0.08954	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.2912:0.24:0.3174:0.1514	1.108	0.01593	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.010101	0.010870	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1759.33	34	chr2	231593316	.	T	C	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.623;DP=983;ExcessHet=0;FS=3.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.581;SOR=0.756	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1773,0,2154	18	0	1	0
chr2	231593771	231593771	C	T	exonic	TEX44	.	nonsynonymous SNV	TEX44:NM_152614:exon1:c.C820T:p.R274C	.	414	1092	16	0	0	16	0.00727273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	7.7e-05	0.00359425	0.0026	9.714e-05	0.0005	0.0001	0	0.0005	0.0033	0.0167	0.0022768	352	154602	rs150621017	0.0013	0.0013	0.0008	0.0018	0.0165	0.0012	0.0012	0.0157	0.0155	8.961e-05	0.0006	0.0004	7.557e-05	1.955e-05	0.0043	0.0003	0.0012	0.0165	0.0008	0.0008	0.0004	0.0013	0.0186	0.0007	0.0007	0.0155	0.0144	0	0	0.0007	0	0.0002	0	0.0034	0.0003	0	0.0186	0.087	0.32453	T	0.022	0.57587	D	0.262	0.31549	B	0.068	0.27651	B	0.003813	0.34463	N	0.000000	0.969659	0.38743	D	.	.	.	1.62	0.28189	T	-7.45	0.94899	D	0.208	0.23125	-1.0670	0.10085	T	0.050	0.21182	T	10	0.0068344176	0.00155	T	.	.	.	0.096	0.27654	.	.	0.0762999501168	0.06990	0.20772594693970844	0.20688	0.126491588652	0.14259	.	.	.	0.022076	0.17084	T	-0.551518	0.00286	T	-0.55202	0.17132	T	0.0606769904587318	0.07274	T	0.611339	0.23205	T	0.18050888	0.39175	0.153769	0.36119	0.18050888	0.39175	0.153769	0.36119	-6.444	0.49852	T	.	.	0.125	0.26514	B	.	.	1.064488	0.14465	11.04	0.94549513014352127	0.25064	0.34797	0.25152	N	AEFDBI	0.111189	0.22023	N	-0.794288364431603	0.13458	0.6631143	-0.723428858588875	0.16377	0.8661116	0.00676749017638534	0.11302	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.96	2.05	0.25860	0.100000	0.15067	-0.128000	0.11649	-2.025000	0.00433	0.500000	0.26956	0.000000	0.08366	0.055000	0.15596	0.1526:0.7571:0.0:0.0903	8.466	0.32119	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.026515	0.02632	1626.33	37	chr2	231593771	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.202;DP=779;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.513;SOR=0.809	GT:AD:DP:GQ:PL	0/1:39,61:100:99:1640,0,974	18	0	1	0
chr2	232263211	232263211	T	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon13:c.T1430G:p.L477R,DIS3L2:NM_152383:exon13:c.T1430G:p.L477R	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	238679	Perlman_syndrome|not_provided|DIS3L2-related_disorder	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.510	0.0325097522616	.	.	8.333e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201719374	5.609e-05	5.609e-05	5.581e-05	5.638e-05	6.835e-05	4.61e-05	4.236e-05	5.597e-05	5.11e-05	0	4.472e-05	0	0	0	0	6.835e-05	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	7.347e-05	0.0002	0.0001	2.846e-05	1.858e-05	0	0.0296	0	0	0	0	0	7.347e-05	0.0005	0	0.007	0.59928	D	0.038	0.51421	D	0.899	0.49514	P	0.771	0.56890	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	1.28	0.35960	T	-3.99	0.77798	D	0.86	0.85660	-0.8703	0.50506	T	0.157	0.48959	T	10	0.048276722	0.04257	T	0.03251	0.54314	D	0.510	0.78971	0.618	0.75232	0.397201501934	0.39331	0.8236105928229279	0.82318	1.00916610978	0.74694	0.629024028778	0.57006	T	0.175447	0.52503	T	0.0913757	0.63345	D	0.130147	0.78903	D	0.443510774349259	0.30558	T	0.946705	0.79569	D	0.846371	0.87068	0.6509974	0.79579	0.846371	0.87069	0.6509974	0.79580	-12.562	0.87480	D	0.5704966065535744	0.63770	0.164	0.36254	B	.;.;.;.	.;.;.;.	4.825740	0.78650	26.9	0.99665767629669255	0.78266	0.99037	0.90305	D	AEFBI	0.882117	0.80999	D	0.529285425112568	0.68830	5.271463	0.508669877540246	0.68573	5.238609	0.999999998863284	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.755000	0.84048	7.765000	0.68366	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.0:1.0	15.080	0.71774	783	0.47268	.;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	35	chr2	232263211	.	T	G	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.251;DP=803;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.706;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr2	232381292	232381292	G	A	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon10:c.G1234A:p.V412I	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	.	0.0028	0.00259585	0.0012	0.0132	0.0008	0	0	4.599e-05	0.0011	6.105e-05	0.0007684	20	26028	rs139149878	0.0004	0.0005	0.0005	0.0004	0.0134	0.0004	0.0004	0.0123	0.0119	0.0134	0.0008	0	0	0	0.0031	7.644e-05	0.0010	5.798e-05	0.0032	0.0032	0.0034	0.0029	0.0108	0.0029	0.0028	0.0100	0.0096	0.0108	0	0.0014	0	0	0	0.0068	7.352e-05	0.0024	0	0.064	0.36509	T	0.057	0.46406	T	0.037	0.20876	B	0.154	0.34351	B	0.010084	0.30071	N	0.342605	0.999997	0.08975	N	-0.655	0.02084	N	-4.05	0.96496	D	-0.24	0.10833	N	0.101	0.08366	-0.1668	0.78505	T	0.571	0.84481	D	10	0.011789709	0.00256	T	.	.	.	0.289	0.60808	.	.	0.901405453299	0.90042	0.649274653449852	0.64863	1.68168134764	0.89993	0.447175502777	0.31558	T	0.322244	0.69327	T	-0.392372	0.02597	T	-0.326004	0.41913	T	0.011362997135056	0.00169	T	0.855114	0.54241	D	0.09273838	0.21764	0.03932294	0.03997	0.09273838	0.21764	0.03932294	0.03997	-5.873	0.45204	T	.	.	0.102	0.17995	B	.	.	1.517389	0.19483	14.29	0.96531965892588489	0.30154	0.01003	0.03794	N	AEFDGBI	0.021568	0.00974	N	-1.12479293206611	0.06204	0.2849942	-1.20333415426079	0.05856	0.280221	0.0215765341547969	0.13360	0.660377	0.49826	0	0.547309	0.14657	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.35	-0.536	0.11282	1.500000	0.35290	0.049000	0.13974	0.373000	0.20310	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4906:0.0:0.1834:0.326	3.389	0.06858	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007878	0.000000	0.016304	0.007752	0.000000	0.000000	0.000000	0.003788	0.02632	2424.33	38	chr2	232381292	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=1126;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.7;MQRankSum=1.24;QD=10.63;ReadPosRankSum=0.625;SOR=0.798	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1339	18	0	1	0
chr2	232525348	232525348	C	A	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon13:c.C1654A:p.P552T,PRSS56:NM_001369848:exon13:c.C1657A:p.P553T	Microphthalmia, isolated 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796106625654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.249e-07	6.84e-07	0	1.47e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1	0.28011	L	.	.	.	.	.	.	0.568	0.59138	.	.	.	.	.	.	.	0.64632744	0.69347	D	0.796107	0.98402	D	.	.	.	.	0.46289702323	0.45912	0.7665545667738595	0.76604	.	.	0.767659306526	0.77075	T	0.066488	0.32958	T	0.173323	0.71427	D	0.0111906	0.71058	D	.	.	.	0.732927	0.34859	T	0.2893043	0.51928	0.53274214	0.73000	0.2893043	0.51928	0.53274214	0.73001	-4.626	0.32497	T	.	.	0.501	0.64631	A	.;.	.;.	4.480325	0.69901	25.4	0.94832156943801549	0.25613	0.96574	0.69822	D	AEFDBCI	0.689583	0.65020	D	.	.	.	.	.	.	0.99999999999507	0.74766	0.095506	0.02484	0	0.059962	0.00310	0	0.104817	0.03109	0	0.079188	0.02158	0	.	.	4.07	4.07	0.46726	4.824000	0.62391	7.418000	0.58694	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	14.820	0.69696	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	877.33	35	chr2	232525348	.	C	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.153;DP=761;ExcessHet=0;FS=5.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.401;SOR=0.62	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1190	18	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K,CHRND:NM_001256657:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	192261	Lethal_multiple_pterygium_syndrome|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	1056.33	33	chr2	232526593	.	C	G	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.872;DP=739;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=2.53;SOR=0.901	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr2	232544900	232544900	A	G	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon11:c.A1378G:p.N460D	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	0	1511	10	1	0	12	0.00395517	0.0024	0.172	.	285318	CHRNG-associated_hypo-akinesia_disorder_of_prenatal_onset|Lethal_multiple_pterygium_syndrome|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MONDO:MONDO:0100158,MedGen:CN323274|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0511886734335	0.0002	0.000399361	0.0005	0.0002	8.688e-05	0	0	0.0002	0	0.0023	0.0003687	57	154602	rs138232636	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	2.987e-05	0.0002	0	0	0	0.0016	0.0002	0.0004	0.0022	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0.0005	0	0	0	0	0.0001	0.0005	0.0033	0.28	0.15509	T	0.66	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.877419	0.08780	U	0.905665	0.977844	0.25287	N	1.525	0.38595	L	-1.89	0.84557	D	-0.45	0.14782	N	0.206	0.27792	-0.4928	0.68909	T	0.468	0.79476	T	10	0.011244088	0.00247	T	0.051189	0.64555	D	0.242	0.54781	.	.	0.844340815084	0.84284	.	.	0.245959487969	0.27123	0.304541051388	0.11082	T	0.12043	0.44266	T	-0.402167	0.02241	T	-0.357246	0.38371	T	0.079155748262095	0.09877	T	0.787421	0.42899	T	0.31829092	0.54495	0.3117458	0.57179	0.27824175	0.50879	0.30706838	0.56729	-1.848	0.02656	T	.	.	0.074	0.05188	B	.;.	.;.	3.516897	0.49280	22.8	0.99295945375523942	0.58433	0.75340	0.36883	D	AEFDBCI	0.533927	0.55318	D	-0.0778507318527609	0.38364	2.245899	0.0466743801742749	0.41912	2.525969	0.99999999787588	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.88	4.88	0.63131	6.360000	0.73005	5.858000	0.50403	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	14.153	0.64936	917	0.20147	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	826.33	36	chr2	232544900	.	A	G	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.782;SOR=0.6	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1446	18	0	1	0
chr2	232545678	232545678	C	T	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon12:c.C1516T:p.P506S	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	0	1490	32	0	0	32	0.0106242	.	.	.	237286	Autosomal_recessive_multiple_pterygium_syndrome|Lethal_multiple_pterygium_syndrome|not_provided|CHRNG-related_disorder	MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	.	0.0065	0.00279553	0.0068	0.0015	0.0019	0	0.0045	0.0084	0.0055	0.0115	0.0068498	1059	154602	rs71421651	0.0084	0.0084	0.0083	0.0085	0.0109	0.0083	0.0082	0.0103	0.0101	0.0011	0.0023	0.0059	0	0.0055	0.0059	0.0092	0.0075	0.0109	0.0054	0.0054	0.0061	0.0046	0.0093	0.0051	0.0049	0.0080	0.0078	0.0015	0	0.0047	0.0032	0	0.0031	0	0.0086	0.0043	0.0093	0.04	0.42199	D	0.051	0.47828	T	0.361	0.33905	B	0.222	0.37884	B	0.000043	0.53742	D	0.074868	0.99982	0.49910	D	2.265	0.64440	M	-1.42	0.85003	T	-4.78	0.82638	D	0.128	0.24385	0.033	0.82918	D	0.460	0.79038	T	10	0.008921087	0.00202	T	.	.	.	0.405	0.71791	.	.	0.847731155471	0.84626	.	.	0.330394397792	0.35121	0.555997252464	0.46703	T	0.506774	0.82481	D	-0.361308	0.04057	T	-0.282376	0.46559	T	0.0289974919559285	0.01836	T	0.850115	0.54640	D	0.2856958	0.51589	0.27120733	0.53019	0.28236347	0.51274	0.27120733	0.53018	-8.456	0.64137	D	.	.	0.111	0.21578	B	.;.	.;.	3.597168	0.50793	23.0	0.99722713874155877	0.82195	0.91722	0.54125	D	AEFDBCI	0.328063	0.42884	N	0.169387878500467	0.49733	3.170391	0.173429386781178	0.48397	3.056082	0.999999990009894	0.74766	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	4.53	4.53	0.55009	2.995000	0.49129	1.740000	0.28393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:0.9176:0.0:0.0824	12.755	0.56704	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	1110.33	33	chr2	232545678	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=768;ExcessHet=0;FS=4.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.704;SOR=1.232	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	35.72	16	chr2	232549510	.	C	T	35.72	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0796;MLEAC=1;MLEAF=0.031;MQ=56.59;MQRankSum=-3.445;QD=2.55;ReadPosRankSum=1.01;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,438:.	15	0	1	3
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	42.38	16	chr2	232549513	.	C	T	42.38	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.34;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.1004;MLEAC=1;MLEAF=0.033;MQ=56;MQRankSum=-3.138;QD=3.53;ReadPosRankSum=0.447;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,446:.	14	0	1	4
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	44.85	16	chr2	232549518	.	A	T	44.85	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.36;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0846;MLEAC=1;MLEAF=0.031;MQ=55.62;MQRankSum=-2.362;QD=4.08;ReadPosRankSum=0.447;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,306:.	15	0	1	3
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	44.77	16	chr2	232549519	.	C	T	44.77	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.447;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.031;MQ=55.62;MQRankSum=-2.362;QD=4.07;ReadPosRankSum=0.447;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,306:.	15	0	1	3
chr2	232549525	232549525	T	C	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.A358G:p.R120G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00253191833817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988700174	7.622e-06	1.567e-05	8.24e-06	7.09e-06	1.293e-05	1.78e-06	1.2e-06	4.02e-06	2.04e-06	0	0	0	0	0	0	1.293e-05	0	0	6.582e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.317	0.13699	T	0.148	0.32675	T	0.65	0.40644	P	0.415	0.44933	B	.	.	.	.	0.98261	0.24951	N	2.05	0.56469	M	1.37	0.34253	T	-0.55	0.16799	N	0.174	0.18649	-1.0255	0.21919	T	0.090	0.34546	T	8	0.18827486	0.34375	T	0.002532	0.05065	T	0.049	0.13647	0.481	0.56142	0.744681466868	0.74238	0.11256495900239101	0.11184	.	.	0.36315536499	0.19845	T	0.240422	0.60874	T	-0.173133	0.24763	T	-0.48647	0.23762	T	0.338491348514844	0.26564	T	0.59884	0.22311	T	0.12546013	0.29411	0.20061272	0.44001	0.12546013	0.29411	0.20061272	0.44000	-7.723	0.59167	D	.	.	0.120	0.24901	B	.	.	2.182338	0.27816	17.59	0.90259914200950342	0.19530	0.05198	0.11021	N	AEFGBI	0.101547	0.20393	N	-0.316897915568869	0.28507	1.572883	-0.431873427428098	0.24067	1.315899	0.999875630302105	0.44625	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.446000	0.21410	0.877000	0.22363	0.661000	0.55757	0.836000	0.30223	0.845000	0.27336	0.794000	0.37478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	47.73	17	chr2	232549525	.	T	C	47.73	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.14;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0796;MLEAC=1;MLEAF=0.031;MQ=55.16;MQRankSum=-2.287;QD=4.77;ReadPosRankSum=-0.282;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,382:.	15	0	1	3
chr2	232549530	232549530	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C353A:p.A118D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00215114005637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484242912	0	4.69e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.07994	T	0.592	0.08161	T	0.956	0.54666	P	0.887	0.62952	P	.	.	.	.	0.92348	0.27237	N	1.82	0.47800	L	1.29	0.35775	T	-0.09	0.08340	N	0.182	0.19728	-0.9515	0.40712	T	0.139	0.45640	T	8	0.22539988	0.39368	T	0.002151	0.04016	T	0.081	0.23632	0.393	0.41770	0.730657502441	0.72826	0.08914081496926869	0.08847	.	.	0.392814904451	0.24066	T	0.192982	0.54830	T	-0.181875	0.23458	T	-0.499028	0.22448	T	0.284047822348565	0.24341	T	0.464953	0.13579	T	0.42828092	0.62639	0.34581423	0.60259	0.42828092	0.62639	0.34581423	0.60258	-5.1	0.37908	T	.	.	0.115	0.23113	B	.	.	2.606083	0.33840	19.46	0.89761259335368337	0.19078	0.14941	0.18664	N	AEFGBCI	0.071620	0.14265	N	-0.0341153908112047	0.40315	2.392057	-0.20293493821147	0.31431	1.778708	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.916000	0.31843	0.908000	0.28083	0.871000	0.41478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	53.39	16	chr2	232549530	.	G	T	53.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.465;DP=290;ExcessHet=0;FS=0;InbreedingCoeff=-0.0703;MLEAC=1;MLEAF=0.029;MQ=53.89;MQRankSum=-2.1;QD=6.67;ReadPosRankSum=-1.068;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,382:.	16	0	1	2
chr2	232549659	232549659	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G224A:p.R75Q	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00411811444132	.	.	0.0004	0	0	0	0	0.0002	0	0.0007	3.88e-05	6	154602	rs756415955	8.24e-05	6.875e-05	7.989e-05	8.454e-05	0.0008	6.346e-05	5.686e-05	0.0001	0.0001	6.284e-05	5.78e-05	0	0.0002	0	0.0008	5.226e-05	9.754e-05	0.0002	4.598e-05	4.596e-05	3.853e-05	5.378e-05	6.546e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	4.825e-05	0	6.546e-05	0	0	0	0	5.878e-05	0	0	0.0	0.91255	D	0.184	0.29056	T	0.829	0.46068	P	0.238	0.38539	B	.	.	.	.	0.99881	0.21894	N	1.38	0.34346	L	1.0	0.41392	T	-2.72	0.57920	D	0.086	0.06322	-1.0611	0.11483	T	0.055	0.23224	T	8	0.08057231	0.13093	T	0.004118	0.09869	T	0.102	0.29158	.	.	0.399304321381	0.39546	0.08535260995392956	0.08469	.	.	0.383756101131	0.22788	T	0.096631	0.39864	T	-0.386442	0.02835	T	-0.489744	0.23418	T	0.119540885637497	0.14385	T	0.547645	0.18800	T	0.45335877	0.64254	0.42849258	0.66561	0.45335877	0.64255	0.42849258	0.66561	-9.224	0.69127	D	.	.	0.110	0.21315	B	.	.	2.252619	0.28777	17.91	0.99442132038749853	0.64820	0.14307	0.18333	N	AEFDBCI	0.102845	0.20620	N	-0.216845649265845	0.32443	1.829667	-0.254625226136773	0.29611	1.660443	0.999934744439048	0.46732	0.660085	0.49399	0	0.435331	0.06439	0	0.662677	0.59975	0	0.444512	0.06955	0	.	.	0.685	0.685	0.17173	0.442000	0.21343	0.029000	0.13704	0.596000	0.33519	0.993000	0.37899	0.993000	0.31925	0.998000	0.85391	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	281.33	29	chr2	232549659	.	C	T	281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.462;SOR=0.859	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,635	18	0	1	0
chr2	232768480	232768480	A	T	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon3:c.T554A:p.F185Y,KCNJ13:NM_002242:exon3:c.T794A:p.F265Y	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2988420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.274973403937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.954	0.54400	P	0.719	0.54822	P	0.000000	0.84330	D	0.042564	1	0.81001	D	3.585	0.93597	H	-3.71	0.95387	D	-2.89	0.60665	D	0.624	0.68863	0.942	0.96279	D	0.896	0.96562	D	10	0.94090545	0.93416	D	0.274973	0.90020	D	0.858	0.95655	0.882	0.96934	0.88999436298	0.88890	0.6693653395676826	0.66874	1.51082159887	0.87234	0.680639743805	0.64361	T	0.756589	0.93372	D	0.246706	0.78291	D	0.117	0.78009	D	0.989587426185608	0.79812	D	0.834817	0.50404	T	0.67919654	0.76926	0.644773	0.79234	0.67919654	0.76927	0.644773	0.79235	-5.588	0.42683	T	0.27768476350658194	0.37245	0.39	0.61280	A	.;.	.;.	3.962911	0.58130	23.9	0.99343911415616659	0.60291	0.99296	0.94110	D	AEFDBI	.	.	.	0.722191096846923	0.81086	7.440829	0.698880156440357	0.82293	7.731376	0.999869056408493	0.44398	0.475973	0.10046	0	0.636889	0.57051	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.92	4.76	0.60189	9.290000	0.95109	4.677000	0.44304	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8688:0.1312:0.0:0.0	13.398	0.60309	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2371.33	37	chr2	232768480	.	A	T	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=840;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.928;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	18	0	1	0
chr2	232794835	232794835	A	C	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon12:c.A1352C:p.N451T,GIGYF2:NM_001103146:exon13:c.A1370C:p.N457T,GIGYF2:NM_001103147:exon15:c.A1433C:p.N478T,GIGYF2:NM_015575:exon15:c.A1370C:p.N457T	.	0	1521	1	0	0	1	0.000328623	.	.	.	15793	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	0.026	0.0184111286572	0.0009	0.000199681	0.0004	0	8.654e-05	0	0.0002	0.0007	0	0	0.0003363	52	154602	rs116074753	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0005	0.0005	8.963e-05	0.0002	0	0	7.488e-05	0.0010	0.0006	0.0004	2.319e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0003	0	0	0	0.0034	0.0006	0.0005	0	0.322	0.15251	T	0.408	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.811671	0.09246	N	0.923124	4.18469e-09	0.08975	A	.	.	.	-0.63	0.73631	T	-0.41	0.16598	N	0.127	0.14480	-0.9526	0.40520	T	0.151	0.47944	T	9	0.06393552	0.08405	T	0.018411	0.40464	T	0.026	0.05648	.	.	0.263709349026	0.25991	0.11088330912890412	0.11017	0.334707703219	0.35486	0.254237294197	0.04227	T	0.104564	0.41425	T	-0.4864	0.00680	T	-0.559402	0.16432	T	0.0124804763098086	0.00206	T	0.716128	0.32863	T	0.022252588	0.00876	0.026784616	0.00787	0.028199896	0.02121	0.03795557	0.03559	-0.974	0.01018	T	.	.	0.060	0.04681	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.423911	0.07943	4.654	0.87452160033640924	0.17238	0.05969	0.11929	N	AEFBI	0.039484	0.05742	N	-1.10976370167432	0.06469	0.2978622	-1.10107406101474	0.07680	0.3745253	0.386227817360765	0.20005	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	-3.72	0.04125	-0.758000	0.04872	-0.715000	0.07732	0.756000	0.94297	0.004000	0.16614	0.000000	0.08366	0.999000	0.91618	0.6372:0.1242:0.1421:0.0965	5.405	0.15616	883	0.28872	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1457.33	33	chr2	232794835	.	A	C	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=742;ExcessHet=0;FS=7.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.644;SOR=1.269	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,56:110:99:0|1:232847515_C_CCG:5281,2290,2065:232847515	6	3	10	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1474	42	6	0	54	0.017988	.	.	.	177079	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Oguchi_disease|not_specified	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016113	0.010101	0.023098	0.008772	0.000000	0.034483	0.018293	0.011364	0.05263	3313.83	34	chr2	233320749	.	G	A	3313.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.725;DP=901;ExcessHet=0.119;FS=2.053;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.257;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	17	0	2	0
chr2	233335071	233335071	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.G916A:p.E306K	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1521	1	0	0	1	0.000328623	.	.	YES	2749233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0321503963129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs397514682	1.232e-05	1.231e-05	5.446e-06	1.926e-05	0.0002	7.7e-06	6.35e-06	6.246e-05	4.757e-05	0	0	0	5.038e-05	0	0.0002	2.698e-06	3.313e-05	0.0001	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	3.11	0.08194	T	-3.37	0.66665	D	0.907	0.90818	-1.0220	0.23063	T	0.088	0.34133	T	10	0.7971338	0.79171	D	0.03215	0.54051	D	0.275	0.59130	0.539	0.65018	0.703980281492	0.70141	0.7037248417315666	0.70313	0.587072184464	0.54300	0.818653285503	0.84822	D	0.382201	0.74434	T	-0.124582	0.32377	T	-0.235202	0.51265	T	0.973209202289581	0.70002	D	.	.	.	0.5053662	0.67409	0.42527598	0.66341	0.5053662	0.67410	0.42527598	0.66341	-11.78	0.83762	D	.	.	0.309	0.53671	B	.	.	5.541562	0.91968	32	0.99925017486802559	0.99042	0.96012	0.67135	D	AEFBCI	0.915787	0.88107	D	0.85607533802623	0.89452	9.977384	0.771396448962076	0.87744	9.329313	0.999999999992292	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	16.687	0.85170	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	861.33	34	chr2	233335071	.	G	A	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=702;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.255;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr2	233448335	233448335	C	T	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon12:c.C1175T:p.T392M,DGKD:NM_003648:exon13:c.C1442T:p.T481M,DGKD:NM_152879:exon14:c.C1574T:p.T525M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0158290347627	7.7e-05	.	5.794e-05	0	0	0.0002	0	4.519e-05	0	0.0001	4.53e-05	7	154602	rs149840484	1.505e-05	1.505e-05	1.361e-05	1.65e-05	0.0001	9.85e-06	8.41e-06	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0	9.892e-06	1.656e-05	5.797e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.046	0.41364	D	0.163	0.31225	T	0.318	0.32936	B	0.042	0.24114	B	0.004302	0.33881	N	0.289012	0.998969	0.21756	N	1.125	0.28843	L	-1.2	0.80125	T	-1.85	0.43334	N	0.423	0.46274	-0.7602	0.57394	T	0.262	0.63274	T	10	0.13871536	0.26379	T	0.015829	0.36777	T	0.313	0.63482	.	.	0.858660360297	0.85729	0.14619007944041568	0.14541	0.532937180173	0.50740	0.507709920406	0.39903	T	0.21052	0.57104	T	-0.149277	0.28426	T	-0.187774	0.55798	T	0.05534848602436	0.06416	T	.	.	.	0.04023359	0.05706	0.075141005	0.16512	0.04023359	0.05706	0.075141005	0.16511	-10.593	0.77380	D	.	.	0.093	0.19720	B	.;.	.;.	3.105420	0.41865	21.4	0.99033656441222617	0.50851	0.68268	0.33738	D	AEFDBHCI	0.133035	0.25255	N	-0.144085103294285	0.35487	2.038964	0.00983964969697571	0.40171	2.393152	0.999999976234422	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	4.44	4.44	0.53164	1.636000	0.36758	4.817000	0.45088	0.596000	0.33519	0.529000	0.27181	0.997000	0.33255	0.890000	0.42831	0.0:0.9156:0.0:0.0844	11.189	0.47898	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	547.33	33	chr2	233448335	.	C	T	547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=696;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=1.43;SOR=0.351	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1454	18	0	1	0
chr2	233511792	233511792	C	T	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382298:exon18:c.G2170A:p.D724N,USP40:NM_001365479:exon20:c.G2443A:p.D815N,USP40:NM_001382295:exon20:c.G2443A:p.D815N,USP40:NM_001382296:exon20:c.G2443A:p.D815N,USP40:NM_001382297:exon20:c.G2443A:p.D815N,USP40:NM_001382299:exon20:c.G2287A:p.D763N,USP40:NM_001382300:exon20:c.G2443A:p.D815N,USP40:NM_001382301:exon20:c.G2443A:p.D815N,USP40:NM_018218:exon20:c.G2440A:p.D814N	.	.	.	.	.	.	.	.	.	.	.	3623072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0331708558507	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001423	22	154602	rs576476551	8.468e-05	8.756e-05	2.737e-05	0.0001	0.0014	7.25e-05	6.694e-05	0.0012	0.0011	0	0	0	0	0	0	0	8.331e-05	0.0014	7.888e-05	7.877e-05	3.859e-05	0.0001	0.0025	4.498e-05	3.513e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.008	0.58626	D	0.009	0.66756	D	0.96	0.55278	D	0.623	0.51505	P	0.745798	0.06455	N	1.139100	1	0.81001	D	2.52	0.73523	M	0.82	0.48142	T	-2.01	0.46337	N	0.133	0.32481	-0.7663	0.57060	T	0.218	0.57994	T	10	0.01328063	0.00282	T	0.033171	0.54790	D	0.188	0.46444	0.313	0.28774	0.67158868663	0.66881	0.33942877418541373	0.33855	0.24754003639	0.27304	0.467417746782	0.34326	T	0.018753	0.15062	T	-0.518123	0.00451	T	-0.547104	0.17605	T	0.246971833266943	0.22737	T	0.946405	0.79487	D	0.12681405	0.29692	0.10207263	0.24454	0.12681405	0.29692	0.10207263	0.24454	-5.83	0.45401	T	.	.	0.35	0.56573	A	.;.;.	.;.;.	4.498984	0.70345	25.5	0.99871032722561615	0.94902	0.91379	0.53415	D	AEFBI	0.447904	0.50336	N	0.375071117545853	0.60073	4.192505	0.352617370069487	0.58664	4.038434	0.999977921248042	0.50053	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.85	4.85	0.62375	4.583000	0.60675	7.481000	0.59259	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0:1.0:0.0:0.0	15.284	0.73518	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	939.33	33	chr2	233511792	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.288;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.256;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr2	233637204	233637204	C	G	exonic	UGT1A10	.	nonsynonymous SNV	UGT1A10:NM_019075:exon1:c.C682G:p.L228V	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00828246481989	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs374057045	2.258e-05	2.257e-05	2.178e-05	2.338e-05	4.473e-05	1.61e-05	1.417e-05	1.83e-05	1.582e-05	0	4.473e-05	0	0	0	0	2.608e-05	1.656e-05	1.159e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.129	0.26852	T	0.237	0.24621	T	0.004	0.12183	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	0.26	0.59314	T	0.16	0.17210	N	0.062	0.03392	-0.9638	0.38448	T	0.108	0.39099	T	9	0.06825337	0.09628	T	0.008282	0.21928	T	0.044	0.11924	.	.	0.200317383148	0.19677	0.13049520392051436	0.12974	0.0280664298658	0.02883	.	.	.	0.140013	0.47433	T	-0.377414	0.03235	T	-0.604058	0.12472	T	0.06652839159778	0.08155	T	0.433757	0.11839	T	0.030097704	0.02615	0.033320863	0.02208	0.030097704	0.02614	0.033320863	0.02208	-2.641	0.08788	T	0.12522451910548674	0.12418	0.076	0.12276	B	.;.	.;.	-1.888201	0.00130	0.002	0.70748899451034575	0.09398	0.00341	0.01769	N	AEFGBI	0.041367	0.06280	N	-1.49085543221414	0.01914	0.08400215	-1.64280431701303	0.01414	0.06390295	0.0115105836354879	0.12195	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-7.04	0.01423	-0.920000	0.04121	-20.000000	0.00162	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1881:0.2363:0.4405:0.1351	3.133	0.06044	471	0.78036	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	9049.81	302	chr2	233637204	.	C	G	9049.81	.	AC=2;AF=0.053;AN=38;DP=1107;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.97;SOR=0.761	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	1	0	0
chr2	233672196	233672196	C	T	exonic	UGT1A9	.	nonsynonymous SNV	UGT1A9:NM_021027:exon1:c.C262T:p.R88W	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0244567501446	0.0006	.	0.0004	0.0003	0	0	0	0.0006	0	0.0002	0.0004334	67	154602	rs143487779	0.0011	0.0011	0.0011	0.0010	0.0013	0.0010	0.0010	0.0013	0.0012	0.0002	2.236e-05	0	0	0	0.0003	0.0013	0.0015	0.0002	0.0006	0.0006	0.0008	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	0.0002	0	0	0	0	0	0	0.0012	0	0.0002	0.018	0.50676	D	0.015	0.61642	D	0.998	0.73220	D	0.791	0.57754	P	.	.	.	.	1	0.08975	N	2.535	0.73915	M	0.08	0.61559	T	-3.02	0.62630	D	0.299	0.33796	-0.8637	0.50995	T	0.227	0.59171	T	9	0.125698	0.23889	T	0.024457	0.47448	T	0.169	0.43123	.	.	0.712338906145	0.70982	0.20609863756821378	0.20526	0.05320953922	0.05865	.	.	.	0.56046	0.85277	D	-0.42788	0.01527	T	-0.393872	0.34100	T	0.0713640483785221	0.08841	T	0.759324	0.38363	T	0.19306067	0.41000	0.101140395	0.24205	0.19306067	0.41000	0.101140395	0.24204	-7.471	0.57406	T	0.21704321447805314	0.29205	0.139	0.30450	B	.	.	2.479328	0.31965	18.90	0.99681774993642613	0.79307	0.10005	0.15628	N	AEFDI	0.452358	0.50594	N	-0.37224286808607	0.26462	1.444412	-0.596817369877486	0.19576	1.050893	0.990081848738085	0.32033	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.45	1.34	0.21018	-1.915000	0.01669	-2.713000	0.03439	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4434:0.5566:0.0	10.291	0.42777	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3578.33	40	chr2	233672196	.	C	T	3578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=1104;ExcessHet=0;FS=4.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.655;SOR=0.916	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	18	0	1	0
chr2	233713320	233713320	T	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.T329A:p.F110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0244665117169	.	.	3.295e-05	0	0.0003	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs778430084	4.104e-06	1.71e-05	4.084e-06	4.125e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	1.799e-06	0	3.478e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.238	0.17821	T	0.271	0.22291	T	0.0	0.02946	B	0.008	0.13708	B	0.826462	0.09139	N	0.925359	1	0.08975	N	1.7	0.43825	L	0.23	0.59717	T	-0.39	0.13611	N	0.169	0.17966	-0.9848	0.33879	T	0.147	0.47165	T	10	0.06668523	0.09181	T	0.024467	0.47458	T	0.073	0.21317	0.328	0.31196	0.268211541103	0.26431	0.19767057168218666	0.19684	0.187802654429	0.21102	.	.	.	0.075745	0.35252	T	-0.229837	0.16671	T	-0.567922	0.15641	T	0.0558336712419987	0.06496	T	0.306369	0.05889	T	0.085422255	0.19814	0.07413036	0.16185	0.085422255	0.19814	0.07413036	0.16185	-4.32	0.28457	T	.	.	0.124	0.25946	B	.	.	0.161103	0.05518	1.979	0.69850750129785322	0.09105	0.23473	0.22087	N	AEFBI	0.222167	0.34669	N	-1.09969918698491	0.06650	0.3066846	-1.1286106242579	0.07158	0.3471191	0.988442924938744	0.31518	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.87	0.979	0.18864	0.417000	0.20934	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4802:0.0:0.0:0.5198	10.830	0.45856	481	0.77356	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.33	45	chr2	233713320	.	T	A	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.97;DP=1484;ExcessHet=0;FS=7.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-10.65;QD=0.23;ReadPosRankSum=-3.893;SOR=1.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1345:.	18	0	1	0
chr2	233713330	233713330	A	T	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.A339T:p.R113S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00423569976087	.	.	4.119e-05	0	0.0003	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs28946883	4.788e-06	1.847e-05	4.084e-06	5.5e-06	6.71e-05	1.99e-06	1.28e-06	1.78e-05	8.93e-06	0	6.71e-05	0	2.519e-05	0	0	8.993e-07	0	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.454	0.08891	T	0.421	0.14075	T	0.0	0.02946	B	0.001	0.04355	B	0.480470	0.04978	N	1.266470	1	0.08975	N	-1.265	0.00749	N	0.12	0.61089	T	0.72	0.02099	N	0.09	0.06854	-1.0301	0.20422	T	0.065	0.26737	T	10	0.03095895	0.01226	T	0.004236	0.10216	T	0.055	0.15663	0.384	0.40298	0.305730143919	0.30178	0.34179644191172476	0.34092	0.183674440416	0.20659	.	.	.	0.039021	0.25043	T	-0.296341	0.09010	T	-0.66345	0.08035	T	0.149709612131119	0.17080	T	0.462454	0.13421	T	0.096403666	0.22707	0.029851688	0.01370	0.096403666	0.22706	0.029851688	0.01370	0.172	0.00293	T	0.062191001208913424	0.01826	0.268	0.50232	B	.	.	-1.537982	0.00273	0.004	0.41234177293518404	0.02962	0.00201	0.01154	N	AEFBI	0.062927	0.12127	N	-2.23613029333737	0.00064	0.002722399	-2.34088431692541	0.00054	0.002364388	0.999999999999994	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.87	-9.74	0.00425	-8.396000	0.00027	-8.448000	0.00968	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4922:0.2282:0.1087:0.1709	3.229	0.06343	481	0.77356	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	151.33	45	chr2	233713330	.	A	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.845;DP=1492;ExcessHet=0;FS=3.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-11.25;QD=0.81;ReadPosRankSum=-3.607;SOR=1.147	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1345:.	18	0	1	0
chr2	233713451	233713451	T	G	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.T460G:p.F154V	.	.	.	.	.	.	.	.	.	.	.	3929247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00589153037459	.	.	0.0001	0.0002	0	0	0.0002	1.498e-05	0	0.0005	3.84e-05	1	26028	rs779404172	3.694e-05	6.225e-05	2.723e-05	4.676e-05	0.0003	2.894e-05	2.592e-05	0.0002	0.0002	5.975e-05	0	0.0004	0	1.872e-05	0	8.094e-06	4.969e-05	0.0003	9.847e-05	0.0001	0.0001	9.397e-05	0.0006	6.001e-05	4.876e-05	0.0002	9e-05	0.0002	0	0	0.0006	0	0	0	2.94e-05	0	0.0006	0.837	0.02832	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.043030	0.23780	N	0.490982	1	0.08975	N	-0.19	0.04217	N	0.72	0.50976	T	-2.68	0.57275	D	0.144	0.14480	-0.9919	0.32115	T	0.051	0.21883	T	10	0.028345376	0.00967	T	0.005892	0.15340	T	0.053	0.14996	0.534	0.64293	0.295623431141	0.29171	0.46507876356932326	0.46426	0.213945522374	0.23918	.	.	.	0.106073	0.41711	T	-0.321029	0.06813	T	-0.698913	0.05884	T	0.0150652959557829	0.00325	T	0.0571943	0.00415	T	0.06884388	0.15034	0.058217835	0.10720	0.06884388	0.15033	0.058217835	0.10720	-1.129	0.01154	T	0.11090072501328564	0.09423	0.197	0.41918	B	.	.	-1.817759	0.00151	0.002	0.34744115804164499	0.02142	0.00964	0.03693	N	AEFDBI	0.080252	0.16223	N	-1.76419391292462	0.00639	0.02754996	-1.78048369310609	0.00824	0.03678748	0.997093965649564	0.35269	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	-2.95	0.05229	-3.639000	0.00455	-20.000000	0.00162	-5.503000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3031:0.0:0.3489:0.3481	5.207	0.14618	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	734.33	45	chr2	233713451	.	T	G	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.386;DP=1846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.44;MQRankSum=-12.01;QD=3.09;ReadPosRankSum=-2.818;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1345:.	18	0	1	0
chr2	233713454	233713454	C	A	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.C463A:p.H155N	.	.	.	.	.	.	.	.	.	.	.	3929248	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00602853514255	.	.	0.0001	0.0002	0	0	0.0002	1.498e-05	0	0.0005	3.84e-05	1	26028	rs776428029	3.489e-05	6.088e-05	2.586e-05	4.401e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	5.975e-05	0	0.0004	0	1.872e-05	0	8.094e-06	4.968e-05	0.0003	9.849e-05	0.0001	0.0001	9.396e-05	0.0006	6.002e-05	4.876e-05	0.0002	9.007e-05	0.0002	0	0	0.0006	0	0	0	2.94e-05	0	0.0006	0.326	0.13306	T	0.307	0.19908	T	0.0	0.02946	B	0.001	0.04355	B	0.749021	0.09715	N	0.894418	1	0.08975	N	-1.24	0.00794	N	0.12	0.61089	T	-0.24	0.10833	N	0.087	0.06454	-1.0378	0.17985	T	0.036	0.15465	T	10	0.017449945	0.00373	T	0.006029	0.15757	T	0.141	0.37795	0.298	0.26362	0.583991495718	0.58072	0.2824694483403466	0.28159	0.178770249441	0.20113	.	.	.	0.060426	0.31385	T	-0.495225	0.00608	T	-0.712464	0.05169	T	0.721589982509613	0.41779	D	0.010399	0.00057	T	0.059699588	0.12165	0.028128022	0.01021	0.059699588	0.12164	0.028128022	0.01021	-2.28	0.04446	T	0.07939510170312794	0.03904	0.102	0.18122	B	.	.	-2.174240	0.00068	0.001	0.51376495547005263	0.04552	0.00720	0.03034	N	AEFDBI	0.081951	0.16588	N	-2.24497363378118	0.00061	0.002604572	-2.29294536887662	0.00069	0.003026222	0.99999999946999	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	-9.76	0.00419	-9.556000	0.00014	-20.000000	0.00162	-2.731000	0.00202	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3175:0.1684:0.162:0.3521	0.349	0.00322	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	45	chr2	233713454	.	C	A	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.831;DP=1852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.48;MQRankSum=-12.34;QD=2.89;ReadPosRankSum=-3.174;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1345:.	18	0	1	0
chr2	233719022	233719022	C	T	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C202T:p.H68Y	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00622855362268	0.0018	0.00119808	0.0023	0.0006	0.0014	0	0.0002	0.0033	0.0044	0.0022	0.0021669	335	154602	rs45621441	0.0017	0.0017	0.0017	0.0017	0.0036	0.0016	0.0016	0.0024	0.0020	0.0003	0.0015	0.0305	2.519e-05	3.744e-05	0.0036	0.0011	0.0031	0.0019	0.0015	0.0015	0.0015	0.0015	0.0014	0.0014	0.0013	0.0010	0.0009	0.0005	0	0.0014	0.0285	0	0	0.0034	0.0012	0.0024	0.0012	0.674	0.04508	T	0.888	0.03152	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	0.999976	0.18612	N	0.265	0.09922	N	0.08	0.61559	T	-0.76	0.21215	N	0.187	0.20395	-1.0321	0.19777	T	0.076	0.30645	T	9	0.005566001	0.00123	T	0.006229	0.16347	T	0.034	0.08419	.	.	0.426670027402	0.42282	0.159423423863104	0.15863	0.0276588172285	0.02828	0.370199084282	0.20860	T	0.082155	0.36763	T	-0.520952	0.00435	T	-0.540102	0.18287	T	0.000902118436942808	0.00009	T	0.129787	0.01020	T	0.03557431	0.04212	0.0509173	0.08089	0.03557431	0.04211	0.0509173	0.08088	-6.102	0.47125	T	0.12361323523802124	0.12006	0.084	0.09868	B	.	.	0.194605	0.05804	2.244	0.76478777257343034	0.11484	0.02368	0.06741	N	AEFBI	0.467442	0.51467	N	-1.16494674392801	0.05538	0.2527413	-1.16145325985793	0.06565	0.3163944	0.0796339437512826	0.15823	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	1.2	0.20181	0.052000	0.14046	-5.306000	0.01768	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1493:0.5071:0.0:0.3436	4.260	0.10186	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.008621	0.015244	0.003788	0.02632	2634.33	33	chr2	233719022	.	C	T	2634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=1425;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=1.02;QD=14.55;ReadPosRankSum=-0.602;SOR=0.586	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1603	18	0	1	0
chr2	233719178	233719178	G	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G358A:p.V120I	.	425	1096	1	0	0	1	0.000455996	.	.	.	3622937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00799367958007	.	.	2.471e-05	0	8.639e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs749190317	1.71e-05	2.668e-05	2.178e-05	1.238e-05	0.0002	1.174e-05	9.92e-06	8.863e-05	6.429e-05	0	0.0002	0	0	0	0.0002	1.259e-05	3.312e-05	0	1.314e-05	1.97e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.519	0.07283	T	0.677	0.06166	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.135	0.04517	N	0.11	0.61208	T	0.01	0.06868	N	0.049	0.02088	-1.0471	0.15217	T	0.080	0.31556	T	9	0.046560496	0.03863	T	0.007994	0.21188	T	0.060	0.17295	0.561	0.68093	0.170165803431	0.16609	0.15712744814220897	0.15633	0.023437749327	0.02374	0.234319731593	0.02303	T	0.055104	0.29912	T	-0.472371	0.00822	T	-0.690603	0.06354	T	0.0251601985325307	0.01294	T	0.237376	0.03328	T	0.030063393	0.02607	0.02659211	0.00757	0.030063393	0.02606	0.02659211	0.00757	-2.839	0.08548	T	0.07615060266089214	0.03453	0.081	0.08081	B	.	.	-2.408970	0.00039	0.001	0.29299164056202215	0.01547	0.00725	0.03048	N	AEFBI	0.339946	0.43692	N	-2.13360964197039	0.00108	0.004616884	-2.24216676080983	0.00090	0.003953686	0.999997209240374	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-8.32	0.00873	-2.248000	0.01271	-20.000000	0.00162	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3011:0.0:0.3124:0.3865	6.031	0.18906	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1625.33	33	chr2	233719178	.	G	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=1375;ExcessHet=0;FS=5.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.84;MQRankSum=-6.883;QD=11.53;ReadPosRankSum=0.114;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1603:.	18	0	1	0
chr2	233719187	233719187	G	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G367A:p.A123T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00240890350579	.	.	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs747678615	1.3e-05	2.463e-05	1.361e-05	1.238e-05	0.0001	8.31e-06	6.7e-06	5.806e-05	3.952e-05	0	0.0001	0	0	0	0	8.993e-06	4.967e-05	0	1.314e-05	1.97e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.423	0.09746	T	0.454	0.12812	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.53	0.13656	N	0.26	0.59314	T	0.0	0.07008	N	0.064	0.03613	-1.0560	0.12776	T	0.058	0.24391	T	9	0.041697443	0.02849	T	0.002409	0.04729	T	0.037	0.09474	0.229	0.15556	0.440182696023	0.43640	0.21965528456699723	0.21881	0.0291907414725	0.03001	0.256625294685	0.04496	T	0.07342	0.34693	T	-0.294513	0.09188	T	-0.660824	0.08211	T	0.061531977597531	0.07408	T	0.350665	0.07816	T	0.022116518	0.00853	0.04436366	0.05732	0.022116518	0.00853	0.04436366	0.05732	-3.246	0.13051	T	0.0831328530398246	0.04459	0.083	0.09239	B	.	.	-3.304448	0.00005	0.001	0.63320035409905551	0.07193	0.00580	0.02616	N	AEFBI	0.277749	0.39219	N	-2.06282056722163	0.00154	0.006608958	-2.17784182881415	0.00125	0.005516307	0.999381576060591	0.39415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-8.32	0.00873	-12.604000	0.00002	-20.000000	0.00162	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1791:0.1929:0.1506:0.4774	1.177	0.01725	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	33	chr2	233719187	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=1372;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.34;MQRankSum=-7.945;QD=10.84;ReadPosRankSum=0.099;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1603:.	18	0	1	0
chr2	233719188	233719188	C	T	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C368T:p.A123V	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00313279934008	.	.	4.942e-05	0	8.637e-05	0	0	5.994e-05	0	6.056e-05	3.84e-05	1	26028	rs771753301	1.437e-05	2.805e-05	1.497e-05	1.375e-05	0.0001	9.23e-06	7.84e-06	5.806e-05	3.953e-05	0	0.0001	0	0	0	0	9.892e-06	4.967e-05	1.159e-05	1.314e-05	1.97e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.694	0.04251	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.43	0.02865	N	0.35	0.58029	T	0.76	0.01978	N	0.072	0.04547	-1.0428	0.16473	T	0.054	0.22731	T	9	0.036700636	0.01982	T	0.003133	0.06815	T	0.043	0.11576	0.327	0.31034	0.436886369515	0.43307	0.1970430394127282	0.19621	0.0252821957818	0.02574	0.234658464789	0.02330	T	0.065414	0.32683	T	-0.444123	0.01223	T	-0.699881	0.05833	T	0.0188316577419937	0.00594	T	0.316668	0.06305	T	0.03039424	0.02696	0.030701973	0.01560	0.03039424	0.02695	0.030701973	0.01560	-2.917	0.09314	T	0.0629766063435898	0.01903	0.090	0.12512	B	.	.	-0.225657	0.02963	0.439	0.33790315577667701	0.02032	0.00158	0.00946	N	AEFBI	0.265977	0.38298	N	-1.74705354439909	0.00688	0.02969856	-1.72441870395808	0.01034	0.04636665	0.0630699447627013	0.15283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	0.018	0.13434	-1.773000	0.01883	-3.451000	0.02777	-0.815000	0.03024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1267:0.1715:0.1309:0.5709	1.919	0.03102	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	33	chr2	233719188	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=1372;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.28;MQRankSum=-8.139;QD=10.84;ReadPosRankSum=0.591;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1603:.	18	0	1	0
chr2	233719190	233719190	C	A	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.C370A:p.L124I	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0145272384415	.	.	2.471e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs772886660	1.163e-05	2.463e-05	1.361e-05	9.626e-06	0.0001	7.08e-06	5.79e-06	5.806e-05	3.952e-05	0	0.0001	0	0	0	0	8.094e-06	3.312e-05	0	1.314e-05	1.97e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.629	0.05167	T	0.496	0.11335	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	-0.08	0.63911	T	-0.29	0.11728	N	0.07	0.04307	-1.0141	0.25625	T	0.103	0.38044	T	9	0.07709813	0.12125	T	0.014527	0.34707	T	0.028	0.06331	0.358	0.36060	0.375861065471	0.37200	0.20625425025764918	0.20542	0.0265551599437	0.02714	0.285872220993	0.08324	T	0.079546	0.36154	T	-0.331452	0.06002	T	-0.631019	0.10338	T	0.0316834808246921	0.02255	T	0.228477	0.03050	T	0.05735409	0.11405	0.03374375	0.02321	0.05735409	0.11404	0.03374375	0.02321	-4.936	0.36137	T	0.14076138785930456	0.15779	0.100	0.17275	B	.	.	-0.402160	0.02204	0.220	0.25601526268997399	0.01188	0.04525	0.10155	N	AEFBI	0.668329	0.63614	D	-1.81224385664798	0.00516	0.02220719	-1.83348323786182	0.00658	0.02925937	0.130798124907093	0.17086	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-2.52	0.05978	-0.647000	0.05495	-1.483000	0.05337	-1.850000	0.00573	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.306:0.2616:0.4325	5.416	0.15672	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1572.33	33	chr2	233719190	.	C	A	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.69;DP=1376;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.35;MQRankSum=-8.151;QD=10.77;ReadPosRankSum=0.055;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1603:.	18	0	1	0
chr2	233719200	233719200	G	C	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.G380C:p.C127S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00276604601753	0.0002	0.000199681	4.942e-05	0.0003	0	0	0	2.997e-05	0	6.056e-05	5.17e-05	8	154602	rs147555582	8.893e-05	0.0001	8.304e-05	9.489e-05	0.0004	7.622e-05	7.167e-05	0.0002	0.0002	0.0004	0.0002	0	0	0	0.0003	6.745e-05	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	6.506e-05	5.319e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.458	0.08787	T	0.43	0.13713	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.375	0.00080	N	0.18	0.60361	T	2.13	0.00351	N	0.042	0.01498	-0.9662	0.37974	T	0.039	0.16763	T	9	0.051525354	0.05046	T	0.002766	0.05723	T	0.086	0.25016	0.378	0.39319	0.229924730088	0.22615	0.30732299820869136	0.30645	0.0279100400615	0.02864	0.301891744137	0.10683	T	0.058	0.30612	T	-0.536849	0.00350	T	-0.729488	0.04350	T	0.0291197220023201	0.01856	T	0.124488	0.00967	T	0.04500807	0.07292	0.12058462	0.29100	0.04500807	0.07292	0.12058462	0.29099	0.151	0.00300	T	0.02897933377865692	0.00065	0.074	0.05188	B	.	.	-1.134044	0.00601	0.015	0.50773097353549379	0.04443	0.00641	0.02803	N	AEFBI	0.253501	0.37299	N	-1.90982652785077	0.00328	0.01407816	-1.83596950972512	0.00651	0.02893624	0.318888580645218	0.19363	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	-2.28	0.06438	-2.066000	0.01472	-2.163000	0.04120	-2.111000	0.00389	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4078:0.4566:0.1356	12.543	0.55530	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1773.33	33	chr2	233719200	.	G	C	1773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=1388;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.51;MQRankSum=-7.763;QD=11.37;ReadPosRankSum=-2.267;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1603:.	18	0	1	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007617	0.000000	0.013661	0.008333	0.055556	0.008621	0.006494	0.007752	0.05263	6687.83	34	chr2	233729862	.	G	T	6687.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=1823;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0.968;QD=13.24;ReadPosRankSum=-0.41;SOR=0.84	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	17	0	2	0
chr2	233760930	233760930	A	G	exonic	UGT1A1	.	nonsynonymous SNV	UGT1A1:NM_000463:exon1:c.A643G:p.I215V	Crigler-Najjar syndrome, type I, Autosomal recessive;Crigler-Najjar syndrome, type II, Autosomal recessive;Hyperbilirubinemia, familial transient neonatal, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	1383278	not_provided|Crigler-Najjar_syndrome_type_1|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Gilbert_syndrome|UGT1A1-related_disorder	MedGen:C3661900|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00556121100589	7.7e-05	.	7.413e-05	0	0	0.0001	0	7.492e-05	0	0.0002	5.82e-05	9	154602	rs144398951	3.694e-05	3.694e-05	2.995e-05	4.4e-05	0.0012	2.894e-05	2.592e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	2.428e-05	0.0001	0.0001	5.91e-05	5.906e-05	6.425e-05	5.372e-05	0.0002	3.076e-05	2.209e-05	5.28e-05	2.833e-05	2.407e-05	0	0.0002	0	0	0	0.0034	4.41e-05	0.0005	0	0.488	0.08042	T	0.535	0.09931	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999894	0.19781	N	0.34	0.10450	N	0.23	0.59717	T	-0.24	0.11913	N	0.023	0.00571	-1.0666	0.10177	T	0.046	0.19680	T	9	0.044555217	0.03426	T	0.005561	0.14349	T	0.080	0.23350	.	.	0.28058544554	0.27657	0.46227409960638804	0.46145	0.0941342584963	0.10624	.	.	.	0.159808	0.50340	T	-0.482096	0.00719	T	-0.693606	0.06182	T	0.30451574921608	0.25190	T	0.190281	0.05188	T	0.049234968	0.08710	0.041665714	0.04789	0.049234968	0.08709	0.041665714	0.04788	-4.053	0.28260	T	0.08747540585429459	0.05143	0.088	0.15654	B	.;.	.;.	-1.420717	0.00345	0.006	0.43073768273821966	0.03218	0.10052	0.15663	N	AEFDBCI	0.704204	0.65999	D	-1.72282313131853	0.00764	0.03298689	-1.78120734700082	0.00821	0.0366769	0.999999999997007	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.93	-11.9	0.00018	-0.472000	0.06702	-5.540000	0.01682	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.2035:0.2627:0.2423:0.2915	0.661	0.00788	627	0.65350	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	6193.33	33	chr2	233760930	.	A	G	6193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.393;DP=1171;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.316;SOR=0.717	GT:AD:DP:GQ:PL	0/1:259,254:513:99:6207,0,7223	18	0	1	0
chr2	233794447	233794447	T	C	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon8:c.T907C:p.Y303H	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0118389574031	.	.	0.0004	0	0	0	0	0.0012	0	0	3.88e-05	6	154602	rs757592602	7.724e-05	7.388e-05	6.633e-05	8.845e-05	0.0005	6.532e-05	6.071e-05	0.0001	7.633e-05	0	2.801e-05	0.0025	0	0	0.0005	2.688e-05	0.0002	1.262e-05	6.571e-05	6.567e-05	0.0001	1.345e-05	2.941e-05	3.517e-05	2.616e-05	4.88e-06	1.83e-06	0	0	0	0.0020	0	9.414e-05	0	2.941e-05	0	0	0.166	0.23183	T	0.0	0.92824	D	.	.	.	.	.	.	0.005206	0.32996	N	0.000000	0.925366	0.27194	N	.	.	.	2.82	0.10871	T	-2.47	0.53898	N	0.653	0.67304	-1.1009	0.03984	T	0.043	0.18618	T	8	0.05623001	0.06270	T	0.011839	0.29861	T	0.097	0.27909	.	.	0.0884992946249	0.08302	0.49130036931435644	0.49051	2.46197207718E-4	0.00014	.	.	.	0.007613	0.07006	T	-0.229851	0.16668	T	-0.319633	0.42616	T	0.0936735942959785	0.11647	T	0.772323	0.40326	T	0.07909447	0.18050	0.15544428	0.36437	0.07909447	0.18050	0.15544428	0.36436	-5.088	0.37780	T	.	.	0.329	0.55159	B	.;.	.;.	3.022806	0.40463	21.2	0.99746346453207069	0.83927	0.67803	0.33566	D	AEFDBI	0.322629	0.42507	N	0.271734676728941	0.54720	3.637042	0.339512877949414	0.57877	3.955403	0.9266842990445	0.26860	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.245000	0.42784	4.850000	0.45366	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	11.941	0.52188	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	916.33	33	chr2	233794447	.	T	C	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=696;ExcessHet=0;FS=2.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.624;SOR=1.001	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chr2	233819939	233819939	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon31:c.C3395T:p.P1132L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	.	0.00459265	0.0014	0.0147	0.0040	0	0	0	0	0	0.0002652	41	154602	rs28900687	0.0003	0.0003	0.0003	0.0003	0.0098	0.0003	0.0003	0.0089	0.0085	0.0098	0.0004	0	2.838e-05	0	0.0023	2.996e-05	0.0010	2.559e-05	0.0032	0.0032	0.0033	0.0030	0.0112	0.0029	0.0028	0.0103	0.0100	0.0112	0	0.0006	0	0	0	0	8.822e-05	0.0009	0	0.018	0.50676	D	0.0	0.92824	D	.	.	.	.	.	.	0.000256	0.46924	U	0.000000	0.976283	0.39262	D	.	.	.	3.46	0.05249	T	-4.56	0.78636	D	0.307	0.35514	-1.1783	0.00395	T	0.021	0.09056	T	8	0.0077261627	0.00175	T	.	.	.	0.114	0.32008	.	.	0.304760801415	0.30091	0.26883527041753474	0.26796	2.46197207718E-4	0.00014	.	.	.	0.063596	0.32217	T	-0.53605	0.00354	T	-0.532387	0.19049	T	0.0499915897226269	0.05499	T	0.759324	0.38363	T	0.1117067	0.26396	0.133861	0.32090	0.1117067	0.26396	0.133861	0.32090	-7.328	0.56394	T	.	.	0.323	0.54747	B	.;.	.;.	3.942285	0.57693	23.9	0.99895305042565963	0.96819	0.55744	0.29941	D	AEFDBI	0.080512	0.16280	N	0.147088719646555	0.48675	3.076817	0.136220092102637	0.46417	2.887951	0.0621255060145731	0.15253	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	5.56	4.68	0.58319	1.054000	0.30064	3.786000	0.39810	0.533000	0.24879	0.731000	0.28933	0.999000	0.35428	0.358000	0.25841	0.0:0.9112:0.0:0.0888	10.768	0.45503	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	907.33	34	chr2	233819939	.	C	T	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=741;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-1.057;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	18	0	1	0
chr2	235930831	235930831	G	A	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_001037131:exon12:c.G1391A:p.R464Q	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0578050787965	7.7e-05	0.00119808	0.0008	0	0.0003	0	0	6.004e-05	0	0.0057	0.000705	109	154602	rs377633728	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0.0002	6.708e-05	0.0003	0	0	0.0016	4.227e-05	0.0005	0.0050	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	9.635e-05	0	0.0001	0.0006	0.0002	0	0.0034	0	0	0.0048	0.57	0.06184	T	0.552	0.09361	T	0.943	0.53072	P	0.494	0.47478	P	0.725813	0.09896	N	0.837651	1	0.81001	D	1.095	0.27400	L	-0.85	0.74371	T	-0.81	0.22294	N	0.411	0.45142	-0.5410	0.67125	T	0.371	0.73001	T	10	0.0064775646	0.00147	T	0.057805	0.67095	D	0.328	0.65026	.	.	0.812174102129	0.81040	0.5986446052123972	0.59795	0.485800927683	0.47462	0.450743794441	0.32045	T	0.04426	0.26761	T	-0.271713	0.11566	T	-0.161844	0.58186	T	0.0360180071893805	0.02985	T	0.778722	0.41238	T	0.06558059	0.14029	0.07037647	0.14946	0.055631086	0.10837	0.071023755	0.15158	-5.074	0.37632	T	.	.	0.094	0.14523	B	.;.	.;.	4.815136	0.78372	26.9	0.99920318893742788	0.98721	0.97903	0.78000	D	AEFDBI	0.871638	0.79314	D	0.479621984025414	0.65900	4.881172	0.54970692294974	0.71377	5.645595	0.999999999998761	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.510000	0.73640	7.438000	0.58849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.067	0.93098	976	0.04745	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2883.33	263	chr2	235930831	.	G	A	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.31;DP=947;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.027;SOR=0.794	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1232	18	0	1	0
chr2	236123935	236123935	C	T	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_014914:exon17:c.C2228T:p.T743M,AGAP1:NM_001037131:exon18:c.C2387T:p.T796M	.	425	1079	18	0	0	18	0.00827206	.	.	.	2877019	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.157	0.0501328786028	0.0002	0.00119808	0.0012	0	8.657e-05	0.0001	0	0.0002	0.0011	0.0080	0.0009961	154	154602	rs201123570	0.0006	0.0006	0.0003	0.0008	0.0081	0.0005	0.0005	0.0076	0.0074	8.969e-05	0.0001	0.0004	0	0	0.0023	5.396e-05	0.0005	0.0081	0.0004	0.0004	0.0001	0.0007	0.0077	0.0003	0.0003	0.0057	0.0050	0	0	0.0008	0	0.0004	0	0.0136	2.94e-05	0	0.0077	0.324	0.13392	T	0.242	0.25670	T	0.003	0.12996	B	0.001	0.11217	B	0.000000	0.84330	N	0.043574	0.999987	0.18198	N	0.905	0.23240	L	1.36	0.34452	T	1.24	0.01121	N	0.187	0.24135	-1.0359	0.18575	T	0.048	0.20513	T	10	0.01215592	0.00262	T	0.050133	0.64112	D	0.157	0.40909	.	.	0.253981072376	0.25009	0.2979052493888897	0.29703	0.425487217938	0.42952	0.678285360336	0.64022	T	0.031085	0.21878	T	-0.455402	0.01049	T	-0.421943	0.30852	T	0.0112411783867895	0.00165	T	0.522748	0.17058	T	0.0811227	0.18623	0.07703519	0.17122	0.09174097	0.21503	0.083002545	0.18989	0.228	0.00376	T	.	.	0.043	0.00061	B	.;.;.;.;.	.;.;.;.;.	1.614611	0.20630	14.84	0.49773766417784437	0.04268	0.12278	0.17170	N	AEFDBI	0.044386	0.07134	N	-0.935920142972459	0.10011	0.476409	-0.827086641246968	0.13840	0.7200992	0.218584330572427	0.18328	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.3	1.81	0.24139	2.680000	0.46583	1.133000	0.24342	-0.749000	0.03603	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.155:0.1409:0.7041	5.792	0.17629	988	0.01987	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002132	0.010417	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.02632	3062.33	191	chr2	236123935	.	C	T	3062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=1393;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=2.18;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr2	236264149	236264149	A	G	exonic	ASB18	.	nonsynonymous SNV	ASB18:NM_212556:exon1:c.T197C:p.M66T	.	.	.	.	.	.	.	.	.	.	.	3586829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0058301559913	.	.	8.467e-06	0	0	0	0	1.525e-05	0	0	6.5e-06	1	154602	rs771980462	1.026e-05	1.026e-05	9.531e-06	1.1e-05	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.195e-06	4.969e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.014	0.53172	D	0.014	0.62352	D	0.033	0.20350	B	0.01	0.14941	B	.	.	.	.	0.999675	0.20721	N	0	0.06538	N	1.26	0.43672	T	-1.77	0.41809	N	0.256	0.28965	-1.0904	0.05466	T	0.050	0.21222	T	9	0.12686566	0.24121	T	0.00583	0.15161	T	0.036	0.09122	0.506	0.60078	0.137902524267	0.13322	0.33854810276045066	0.33767	0.0591035602444	0.06565	0.313485145569	0.12434	T	0.040269	0.25469	T	-0.20444	0.20168	T	-0.53144	0.19143	T	0.118695330392843	0.14302	T	0.40286	0.10299	T	0.17163414	0.37808	0.2236528	0.47251	0.17163414	0.37807	0.2236528	0.47250	-1.901	0.02828	T	.	.	0.165	0.36416	B	.;.	.;.	0.938190	0.13140	9.639	0.945544020589971	0.25073	0.38880	0.26088	N	AEFBI	0.067403	0.13248	N	-0.756524041802822	0.14457	0.7202736	-0.648426551962563	0.18256	0.9744646	0.999701466932849	0.41986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	1.24	0.20416	0.746000	0.25942	-0.368000	0.09627	0.691000	0.84096	0.812000	0.29879	0.000000	0.08366	0.333000	0.25271	0.8467:0.0:0.1533:0.0	9.628	0.38928	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1145.33	41	chr2	236264149	.	A	G	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.299;DP=737;ExcessHet=0;FS=6.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-2.086;SOR=1.465	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	237340980	237340980	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon35:c.G6115C:p.V2039L,COL6A3:NM_057167:exon37:c.G7318C:p.V2440L,COL6A3:NM_004369:exon38:c.G7936C:p.V2646L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1292544	Inborn_genetic_diseases|not_provided|Bethlem_myopathy_1A	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.089173137264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419214464	6.841e-06	6.84e-06	6.806e-06	6.875e-06	7.194e-06	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.003	0.76473	D	0.005	0.59044	B	0.01	0.65999	B	0.006785	0.31798	N	0.140523	0.999921	0.19486	N	1.25	0.31749	L	-1.84	0.84195	D	-0.44	0.14588	N	0.493	0.61002	-0.3220	0.74366	T	0.557	0.83831	D	10	0.35792542	0.52497	T	0.089173	0.75275	D	0.344	0.66582	.	.	0.82535041295	0.82370	0.363650839497409	0.36279	0.144877207135	0.16365	0.477469027042	0.35708	T	0.157488	0.50011	T	0.0140567	0.53576	T	-0.217585	0.52969	T	0.037122156471014	0.03177	T	0.910709	0.68343	D	0.044062667	0.06977	0.048346225	0.07162	0.044062667	0.06977	0.048346225	0.07161	-5.35	0.40435	T	0.4123862355351214	0.50249	0.168	0.37539	B	.;.;.;.;.	.;.;.;.;.	3.101520	0.41800	21.4	0.90727658460681371	0.19977	0.50918	0.28774	D	AEFBI	0.311233	0.41702	N	-0.476911408239556	0.22839	1.222334	-0.41513728000773	0.24553	1.345141	0.99503561979057	0.33919	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.05	2.12	0.26372	1.044000	0.29939	1.364000	0.25903	-0.193000	0.09282	0.386000	0.26055	0.998000	0.33993	0.990000	0.65344	0.0:0.7736:0.0:0.2264	10.409	0.43465	955	0.09969	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1685.33	33	chr2	237340980	.	C	G	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=796;ExcessHet=0;FS=3.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.149;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1060:.	18	0	1	0
chr2	237344941	237344941	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon32:c.G5353A:p.G1785R,COL6A3:NM_057167:exon34:c.G6556A:p.G2186R,COL6A3:NM_004369:exon35:c.G7174A:p.G2392R	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.4886	0.522	YES	269717	not_provided|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.813	0.679182776197	.	.	7.457e-05	0.0003	0.0002	0	0	6.028e-05	0	0	6.47e-05	10	154602	rs773673162	5.815e-05	5.814e-05	5.037e-05	6.6e-05	0.0002	4.81e-05	4.431e-05	0.0001	7.816e-05	0.0002	0.0002	0	0	0	0	5.845e-05	4.967e-05	1.159e-05	9.867e-05	9.853e-05	0.0001	8.081e-05	0.0002	6.013e-05	4.885e-05	0.0001	9.949e-05	0.0002	0	0.0001	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000106	0.50451	D	0.000000	1	0.81001	D	0.6	0.15550	N	-4.29	0.97149	D	-3.87	0.75220	D	0.797	0.79310	1.076	0.98750	D	0.945	0.98211	D	9	0.8499272	0.84167	D	0.679183	0.97339	D	0.813	0.93969	0.57	0.69299	0.932136169751	0.93144	0.634276261768967	0.63361	0.177680901241	0.19995	0.780408263206	0.78989	T	0.265247	0.63710	T	0.210166	0.74845	D	0.418146	0.92683	D	0.172686998090842	0.18761	T	0.933707	0.75920	D	0.49590546	0.66854	0.49405447	0.70737	0.49590546	0.66854	0.49405447	0.70737	-9.525	0.71014	D	.	.	0.868	0.80740	P	.;.;.;.	.;.;.;.	8.029574	0.97104	37	0.89185565319530047	0.18582	0.99619	0.98049	D	AEFDBI	0.957460	0.97665	D	0.696947311165814	0.79430	7.076	0.616480760080949	0.76134	6.43577	0.999999999999975	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	7.242000	0.77660	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	16.977	0.86188	955	0.09969	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1799.33	41	chr2	237344941	.	C	T	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=807;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.751;SOR=0.767	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr2	237368568	237368568	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon7:c.G3074A:p.R1025Q,COL6A3:NM_057167:exon9:c.G4277A:p.R1426Q,COL6A3:NM_004369:exon10:c.G4895A:p.R1632Q	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	2	1499	17	4	0	25	0.00826993	.	.	.	100841	Bethlem_myopathy_1A|Dystonia_27|Ullrich_congenital_muscular_dystrophy_1A|Collagen_6-related_myopathy|not_specified|not_provided	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.138	.	0.0010	0.0169728	0.0106	0.0005	0.0010	0.0362	0.0315	0.0028	0.0110	0.0330	0.0094824	1466	154602	rs111231885	0.0050	0.0050	0.0043	0.0057	0.0371	0.0049	0.0049	0.0355	0.0349	0.0005	0.0008	0.0010	0.0371	0.0266	0.0095	0.0012	0.0081	0.0284	0.0057	0.0057	0.0037	0.0077	0.0385	0.0054	0.0052	0.0341	0.0324	0.0003	0	0.0011	0.0014	0.0385	0.0340	0.0170	0.0016	0.0062	0.0310	0.298	0.15406	T	0.138	0.33780	T	0.744	0.43069	P	0.115	0.31843	B	0.094742	0.20157	N	0.403035	1	0.08975	N	1.59	0.40313	L	-1.13	0.77719	T	-0.42	0.14588	N	0.111	0.17691	-0.9007	0.47920	T	0.077	0.30676	T	10	0.003070861	0.00051	T	.	.	.	0.138	0.37187	.	.	.	.	0.27369107487964184	0.27282	0.181760226822	0.20427	0.32082092762	0.13546	T	0.120905	0.44348	T	-0.531824	0.00375	T	-0.510245	0.21290	T	0.0120523430210651	0.00191	T	0.820918	0.48005	T	0.04517161	0.07349	0.023076456	0.00323	0.042766616	0.06546	0.024133898	0.00429	-2.857	0.10409	T	0.12059516096656088	0.11355	0.070	0.06479	B	.;.;.;.;.	.;.;.;.;.	0.705618	0.10744	7.433	0.67849119648323708	0.08478	0.04402	0.09988	N	AEFBI	0.188685	0.31595	N	-0.965459690025199	0.09349	0.4420911	-1.04912676057481	0.08725	0.4303999	0.989070004496577	0.31712	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.57	-0.801	0.10344	-0.909000	0.04167	0.000000	0.13247	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2239:0.426:0.1205:0.2297	1.627	0.02561	944	0.12746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012097	0.000000	0.010870	0.020468	0.000000	0.008621	0.003049	0.018939	0.02632	1440.33	33	chr2	237368568	.	C	T	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.478;SOR=0.692	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,102,1775	18	0	1	0
chr2	237371833	237371833	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.G2363A:p.R788Q,COL6A3:NM_057164:exon7:c.G2963A:p.R988Q,COL6A3:NM_057165:exon8:c.G3566A:p.R1189Q,COL6A3:NM_057167:exon8:c.G3566A:p.R1189Q,COL6A3:NM_004369:exon9:c.G4184A:p.R1395Q	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	100829	Bethlem_myopathy_1A|Dystonia_27|Ullrich_congenital_muscular_dystrophy_1A|not_provided|Collagen_6-related_myopathy|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.0181709	0.0092	0.0004	0.0273	0.0745	0.0056	0.0011	0.0055	0.0022	0.0083763	1295	154602	rs80272723	0.0036	0.0036	0.0037	0.0035	0.0757	0.0035	0.0035	0.0735	0.0726	0.0004	0.0223	0.0002	0.0757	0.0071	0.0016	0.0003	0.0041	0.0024	0.0044	0.0044	0.0039	0.0049	0.0779	0.0041	0.0040	0.0716	0.0692	0.0006	0	0.0081	0	0.0779	0.0052	0	0.0006	0.0019	0.0042	0.363	0.18184	T	0.672	0.33000	T	0.933	0.52105	P	0.341	0.42432	B	0.002747	0.36001	N	0.119023	0.976172	0.39253	D	0.455	0.12820	N	-1.65	0.82625	D	-0.57	0.17834	N	0.215	0.26475	-0.8600	0.51263	T	0.025	0.10464	T	10	0.0020683706	0.00029	T	.	.	.	0.256	0.56694	.	.	0.844122399407	0.84262	0.327226935328165	0.32635	0.494085474366	0.47983	0.265912353992	0.05615	T	0.147401	0.48546	T	-0.409031	0.02017	T	-0.302795	0.44429	T	0.0173847819792866	0.00476	T	0.891911	0.62748	D	0.080497004	0.18448	0.03938273	0.04017	0.08278213	0.19085	0.039549347	0.04072	-5.137	0.42232	T	0.07706686783883282	0.03577	0.084	0.18331	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.193687	0.27969	17.64	0.98657143777394474	0.44275	0.57514	0.30396	D	AEFDBI	0.251373	0.37125	N	-0.327679387743932	0.28101	1.547169	-0.203961634891066	0.31394	1.776257	0.999768398395006	0.42728	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.64	4.77	0.60425	0.596000	0.23744	2.156000	0.30947	-0.187000	0.09635	0.874000	0.30870	1.000000	0.68203	0.844000	0.39860	0.0:0.7979:0.0:0.2021	9.481	0.38067	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1149.33	35	chr2	237371833	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=749;ExcessHet=0;FS=6.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.408;SOR=1.417	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S,COL6A3:NM_057166:exon3:c.C254G:p.T85S,COL6A3:NM_057165:exon4:c.C857G:p.T286S,COL6A3:NM_057167:exon4:c.C857G:p.T286S,COL6A3:NM_004369:exon5:c.C1475G:p.T492S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100808	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.02632	2260.33	149	chr2	237381337	.	G	C	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=779;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-1.196;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1142:.	18	0	1	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H,COL6A3:NM_057166:exon3:c.G250C:p.D84H,COL6A3:NM_057165:exon4:c.G853C:p.D285H,COL6A3:NM_057167:exon4:c.G853C:p.D285H,COL6A3:NM_004369:exon5:c.G1471C:p.D491H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100807	not_provided|not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.02632	2254.33	147	chr2	237381341	.	C	G	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.266;DP=777;ExcessHet=0;FS=2.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-1.694;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1142:.	18	0	1	0
chr2	237527469	237527469	G	A	exonic	MLPH	.	nonsynonymous SNV	MLPH:NM_001281473:exon7:c.G853A:p.A285T,MLPH:NM_001042467:exon8:c.G973A:p.A325T,MLPH:NM_024101:exon8:c.G973A:p.A325T	Griscelli syndrome, type 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00471551015111	7.7e-05	.	8.237e-05	0	0	0.0001	0	0.0001	0	0.0001	6.47e-05	10	154602	rs369514614	9.713e-05	9.713e-05	0.0001	9.213e-05	0.0002	8.376e-05	7.915e-05	9.468e-05	8.872e-05	0	0.0001	0	2.519e-05	0	0.0002	0.0001	0.0001	3.478e-05	5.914e-05	5.91e-05	5.139e-05	6.726e-05	0.0001	3.078e-05	2.21e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.677	0.07071	T	0.777	0.07468	T	0.043	0.23997	B	0.029	0.22131	B	0.743658	0.06443	N	1.134500	1	0.20930	N	0.99	0.25021	L	2.06	0.29866	T	-0.48	0.19085	N	0.122	0.16864	-1.0073	0.27758	T	0.050	0.21104	T	10	0.056817025	0.06428	T	0.004716	0.11722	T	0.044	0.11924	.	.	0.246215685461	0.24236	0.15293347959640843	0.15215	0.101771959714	0.11512	0.268619447947	0.05962	T	0.141302	0.47629	T	-0.44432	0.01220	T	-0.650309	0.08933	T	0.0213763894986152	0.00840	T	0.615039	0.24395	T	0.030157208	0.02631	0.04389756	0.05564	0.030157208	0.02630	0.04389756	0.05564	-3.615	0.31932	T	0.20370237983557327	0.27128	0.086	0.24532	B	.;.;.	.;.;.	-0.091276	0.03692	0.751	0.87898894124246885	0.17564	0.03734	0.09030	N	AEFDBCI	0.131214	0.25007	N	-1.17146619330755	0.05435	0.2478053	-1.31906598912916	0.04184	0.1968114	0.341556975429706	0.19589	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.71	-3.17	0.04882	-0.337000	0.07898	-0.856000	0.07159	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4046:0.0:0.3393:0.256	3.942	0.08828	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1858.33	34	chr2	237527469	.	G	A	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.624;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.715;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1248	18	0	1	0
chr2	237827434	237827434	C	A	exonic	RBM44	.	nonsynonymous SNV	RBM44:NM_001080504:exon12:c.C2531A:p.A844D	.	460	1055	7	0	0	7	0.00330657	0.9908	0.858	.	2283847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.00742423257258	0.0011	0.000998403	0.0018	0.0004	0.0022	0	0	0.0028	0	0.0015	0.0005886	91	154602	rs199634505	0.0011	0.0012	0.0010	0.0012	0.0054	0.0011	0.0011	0.0039	0.0034	0.0004	0.0007	0.0042	0	6.086e-05	0.0054	0.0011	0.0013	0.0014	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0013	0.0011	0.0001	0	0.0018	0.0032	0	0	0.0034	0.0014	0.0019	0.0017	0.033	0.44358	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.716896	0.33576	D	.	.	.	2.51	0.14284	T	-2.91	0.60982	D	0.284	0.39052	-1.0230	0.22736	T	0.046	0.19839	T	9	0.010333866	0.00230	T	0.007424	0.19685	T	0.153	0.40148	.	.	0.305410167561	0.30157	0.5779593409105788	0.57724	0.19089632529	0.21403	0.451999336481	0.32217	T	.	.	.	-0.483458	0.00706	T	-0.48046	0.24398	T	0.0334966674879988	0.02553	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.31151	B	.;.;.	.;.;.	2.934224	0.38996	20.9	0.9975662005486694	0.84694	0.71453	0.35019	D	AEFI	0.292295	0.40320	N	0.393846983267477	0.61088	4.305345	0.447652619518583	0.64565	4.714702	0.216836057064981	0.18307	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	0.032000	0.13620	1.806000	0.28922	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.988000	0.63387	0.0:0.8361:0.1639:0.0	12.831	0.57128	982	0.03397	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM44, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM44, RNA recognition motif;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010983	0.015306	0.017143	0.005988	0.000000	0.008772	0.006250	0.004065	0.02632	564.33	33	chr2	237827434	.	C	A	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=678;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.314;SOR=1.038	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1246	18	0	1	0
chr2	238081724	238081724	C	T	exonic	SCLY	.	nonsynonymous SNV	SCLY:NM_016510:exon5:c.C500T:p.P167L	.	434	1081	6	1	0	8	0.00368664	.	.	.	2432022	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.199029072943	.	.	9.082e-05	0	0	0	0	7.507e-05	0	0.0004	7.12e-05	11	154602	rs773962297	9.304e-05	9.303e-05	8.168e-05	0.0001	0.0017	8.025e-05	7.518e-05	0.0009	0.0007	0	0	0	2.519e-05	0	0.0017	6.026e-05	0.0003	0.0004	6.571e-05	6.567e-05	8.992e-05	4.036e-05	0.0001	3.517e-05	2.616e-05	4.764e-05	3.338e-05	2.413e-05	0	0	0	0	9.42e-05	0	0.0001	0.0005	0	0.029	0.91255	D	0.018	0.67890	D	0.999	0.77913	D	0.879	0.62418	P	0.000618	0.42945	D	0.231804	1	0.81001	D	3.12	0.87914	M	1.51	0.87910	T	-6.54	0.94758	D	0.465	0.50146	0.225	0.86328	D	0.569	0.84377	D	10	0.79340994	0.78858	D	0.199029	0.86629	D	0.359	0.67962	0.715	0.85051	0.91296434331	0.91208	.	.	0.394222162191	0.40582	0.619552612305	0.55667	T	.	.	.	0.0716149	0.61045	D	0.169641	0.81388	D	0.630746364593506	0.37649	D	0.960304	0.85063	D	.	.	.	.	.	.	.	.	-8.691	0.65687	D	.	.	0.332	0.55376	B	.;.;.	.;.;.	4.465754	0.69550	25.4	0.99843995028405252	0.92403	0.98379	0.82178	D	AEFDBI	0.741435	0.68537	D	0.477075522751307	0.65754	4.862412	0.476300668683268	0.66424	4.950132	0.999999854472093	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.998000	0.63670	3.871000	0.40188	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.148000	0.20235	0.0:1.0:0.0:0.0	18.910	0.92455	964	0.07719	Aminotransferase class V domain;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1190.33	33	chr2	238081724	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.977;SOR=0.717	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1160	18	0	1	0
chr2	238130392	238130392	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G574A:p.G192R,ESPNL:NM_194312:exon9:c.G1678A:p.G560R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0693573402986	0.0007	0.00159744	0.0007	0.0038	0.0001	0.0029	0	0.0002	0	0.0010	0.0005627	87	154602	rs145074139	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0021	0.0028	0.0002	0	0.0008	0	0	4.68e-05	0.0005	0.0006	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0018	0.0017	0.0022	0	0.0003	0	0.0025	0	0	2.941e-05	0.0014	0.0006	0.196	0.20683	T	0.395	0.18617	T	0.009	0.17332	B	0.007	0.17743	B	0.819610	0.09188	N	0.878539	1	0.08975	N	1.335	0.33326	L	-0.05	0.63403	T	-2.3	0.51157	N	0.058	0.15888	-0.9937	0.31643	T	0.097	0.36341	T	10	0.0038446784	0.00073	T	0.069357	0.70706	D	0.131	0.35738	0.226	0.15109	0.149567049428	0.14543	0.08051695251524227	0.07986	0.153672317114	0.17337	0.531638860703	0.43265	T	0.003771	0.03181	T	-0.417466	0.01776	T	-0.371622	0.36700	T	0.00308815792051086	0.00032	T	0.635136	0.24942	T	0.044621535	0.07163	0.09384508	0.22185	0.044621535	0.07162	0.09384508	0.22185	-4.823	0.34858	T	.	.	0.131	0.29311	B	.;.;.	.;.;.	0.511841	0.08805	5.585	0.78534550850602469	0.12342	0.09500	0.15242	N	AEFBI	0.114676	0.22577	N	-1.09530028795792	0.06729	0.3106143	-1.14816182804525	0.06801	0.3286075	0.368077773525818	0.19843	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	2.05	0.25860	0.488000	0.22080	-0.080000	0.12189	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.1722:0.6316:0.0	5.106	0.14117	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1774.83	66	chr2	238130392	.	G	A	1774.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.75;DP=820;ExcessHet=0.119;FS=2.683;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.355;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,17:47:99:0|1:238130392_G_A:594,0,1129:238130392	17	0	2	0
chr2	238130423	238130423	C	T	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.C605T:p.A202V,ESPNL:NM_194312:exon9:c.C1709T:p.A570V	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0229322685702	.	0.000399361	5.425e-05	0	0.0002	0	0	5.913e-05	0	0	6.47e-05	10	154602	rs548689443	5.359e-05	5.609e-05	4.783e-05	5.942e-05	0.0002	4.363e-05	4.035e-05	4.273e-05	3.844e-05	0	4.535e-05	0	7.607e-05	3.889e-05	0.0002	5.406e-05	4.993e-05	8.201e-05	5.255e-05	5.25e-05	6.427e-05	4.031e-05	0.0003	2.557e-05	1.83e-05	8.868e-05	5.28e-05	2.407e-05	0	0.0003	0	0	0	0	4.413e-05	0	0	0.23	0.18626	T	0.181	0.29346	T	0.006	0.15914	B	0.003	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.46	0.20145	N	0.07	0.04307	-1.0498	0.14453	T	0.086	0.33354	T	9	0.021183103	0.00502	T	0.022932	0.45860	T	0.041	0.10877	.	.	0.0551355673512	0.04727	0.024275579551919734	0.02378	0.120064589103	0.13520	0.439498960972	0.30508	T	0.001332	0.00808	T	-0.360208	0.04118	T	-0.529489	0.19337	T	0.0262936742965941	0.01445	T	0.49745	0.15470	T	0.027279178	0.01897	0.03319585	0.02174	0.027279178	0.01897	0.03319585	0.02174	-4.756	0.35042	T	.	.	0.077	0.11366	B	.;.;.	.;.;.	-0.949766	0.00845	0.029	0.90594287968749887	0.19848	0.01644	0.05287	N	AEFBI	0.058092	0.10874	N	-1.33676403467122	0.03264	0.1455108	-1.43082254047335	0.02948	0.1366132	0.914785047855133	0.26464	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.37	-4.7	0.03051	-2.696000	0.00898	0.000000	0.13247	-0.267000	0.06790	0.000000	0.06391	0.176000	0.23382	0.000000	0.00833	0.1421:0.307:0.2815:0.2693	1.085	0.01549	969	0.06854	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	339.33	76	chr2	238130423	.	C	T	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.215;DP=955;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.538;SOR=0.494	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	18	0	1	0
chr2	238140785	238140785	C	T	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.C31T:p.H11Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0202634953554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.011272	0.29595	N	0.402778	1	0.81001	D	1.125	0.28843	L	-0.5	0.70480	T	-0.79	0.21860	N	0.172	0.18376	-0.8674	0.50724	T	0.170	0.51117	T	8	0.17817274	0.32889	T	0.020263	0.42817	T	0.082	0.23913	0.294	0.25720	0.775984134536	0.77392	0.316846618741447	0.31597	0.220734750985	0.24623	0.392889857292	0.24076	T	0.007164	0.06575	T	-0.122723	0.32679	T	-0.41406	0.31758	T	0.163351521280267	0.18116	T	0.874313	0.58483	D	0.095375724	0.22444	0.110189	0.26567	0.095375724	0.22443	0.110189	0.26567	-4.233	0.27226	T	.	.	0.075	0.05317	B	.	.	1.482242	0.19077	14.08	0.76632981561082403	0.11547	0.69808	0.34335	D	AEFBI	0.237178	0.35951	N	0.0724613863230069	0.45181	2.778995	0.194478210852926	0.49545	3.156321	0.999999997836029	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	4.77	0.60425	2.707000	0.46812	0.737000	0.21131	0.599000	0.40250	1.000000	0.71638	0.234000	0.23804	0.898000	0.43474	0.0:0.7157:0.0:0.2843	4.577	0.11631	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	734.33	37	chr2	238140785	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=689;ExcessHet=0;FS=3.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.373;SOR=0.287	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr2	238161621	238161621	G	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon2:c.G226T:p.V76F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00289964474509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.59	0.08217	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.13	0.48354	N	0.11	0.09631	-1.0010	0.29631	T	0.059	0.24686	T	5	0.07129055	0.10488	T	0.003	0.06133	T	0.051	0.14325	0.101	0.01536	0.0611884634855	0.05136	0.174198146402236	0.17338	.	.	.	.	.	0.009703	0.08820	T	-0.256817	0.13276	T	-0.606676	0.12257	T	0.0769643162966993	0.09594	T	0.354665	0.08016	T	0.047345825	0.08078	0.094944604	0.22495	0.047345825	0.08078	0.094944604	0.22494	-5.952	0.45876	T	.	.	0.148	0.32756	B	.	.	-0.887184	0.00947	0.037	0.95485612825030108	0.27054	0.04881	0.10624	N	AEFDBCI	0.069128	0.13668	N	-1.10086819959311	0.06628	0.305669	-1.29676803121982	0.04475	0.2111348	0.999725372846737	0.42220	0.514905	0.20481	0	0.578056	0.33634	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.4	-3.91	0.03892	-0.396000	0.07338	-2.611000	0.03550	-1.764000	0.00673	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.524:0.1418:0.1943:0.14	1.43	0.02191	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	33	chr2	238161621	.	G	T	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=737;ExcessHet=0;FS=1.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.075;SOR=0.478	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	238164320	238164320	C	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon6:c.C847T:p.R283C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.308395710082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242808103	6.514e-06	1.094e-05	7.145e-06	5.866e-06	7.44e-06	3.07e-06	2.22e-06	3.2e-06	2.31e-06	0	0	0	0	0	0	7.44e-06	1.741e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.011	0.64786	D	.	.	.	.	.	.	0.035946	0.24582	N	0.353536	0.999841	0.49770	D	.	.	.	0.93	0.44065	T	-6.51	0.91653	D	0.619	0.63459	-0.8736	0.50257	T	0.158	0.49178	T	8	0.73059887	0.74271	D	0.308396	0.91107	D	0.301	0.62179	0.561	0.68093	0.623049244626	0.61998	0.45652942995381224	0.45570	.	.	.	.	.	0.383283	0.74517	T	-0.030352	0.47366	T	-0.281375	0.46664	T	0.904633343219757	0.55815	D	0.756924	0.38041	T	0.32840264	0.55340	0.2911088	0.55135	0.32840264	0.55340	0.2911088	0.55134	-11.485	0.82251	D	.	.	0.495	0.64352	A	.	.	5.307898	0.89104	29.9	0.9949370148317831	0.67630	0.93164	0.57492	D	AEFDBCI	0.753966	0.69399	D	-0.190312755762293	0.33537	1.903772	-0.259910885317387	0.29431	1.648838	0.9999979966686	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.4	3.52	0.39415	3.619000	0.53937	5.490000	0.48745	-0.221000	0.07976	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9085:0.0:0.0915	11.364	0.48898	969	0.06854	C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1308.83	38	chr2	238164320	.	C	T	1308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.25;DP=745;ExcessHet=0.119;FS=1.655;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.155;SOR=0.954	GT:AD:DP:GQ:PL	0/1:33,27:60:99:782,0,787	17	0	2	0
chr2	238334015	238334015	G	A	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_001139490:exon7:c.G1043A:p.R348Q,TRAF3IP1:NM_015650:exon7:c.G1043A:p.R348Q	Senior-Loken syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1041251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00943345299379	7.7e-05	.	4.025e-05	0.0001	0.0002	0	0	1.925e-05	0	0	3.23e-05	5	154602	rs369516358	4.25e-05	4.446e-05	4.5e-05	3.998e-05	0.0002	3.384e-05	3.071e-05	2.918e-05	2.593e-05	0	4.506e-05	0	0	0	0.0002	3.873e-05	0.0002	5.83e-05	3.964e-05	3.951e-05	5.16e-05	2.709e-05	7.361e-05	1.723e-05	1.135e-05	2.85e-05	1.861e-05	2.429e-05	0	0	0	0	0	0	7.361e-05	0	0	0.161	0.48186	T	0.277	0.39799	T	0.645	0.41705	P	0.115	0.31843	B	0.074526	0.21278	N	0.454048	0.999995	0.29226	N	2.745	0.80253	M	1.88	0.23884	T	-1.15	0.36385	N	0.137	0.20528	-1.0423	0.16621	T	0.044	0.18742	T	10	0.11669126	0.22019	T	0.009433	0.24716	T	0.030	0.07022	.	.	0.259272394797	0.25527	0.2923548752615567	0.29148	0.243943641455	0.26902	0.274120688438	0.06685	T	0.017628	0.14352	T	-0.348759	0.04806	T	-0.541102	0.18187	T	0.050478754731825	0.05584	T	0.813219	0.46599	T	0.05906707	0.11959	0.054012485	0.09208	0.05906707	0.11959	0.054012485	0.09207	-4.376	0.29230	T	0.2980234112649496	0.39519	0.090	0.12560	B	.;.	.;.	2.437080	0.31360	18.72	0.96738773693853652	0.30917	0.28576	0.23592	N	AEFBI	0.047431	0.07987	N	-0.508267761092406	0.21813	1.160295	-0.610264065290543	0.19229	1.030776	0.10131473491642	0.16374	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.55	1.59	0.22622	0.747000	0.25956	3.255000	0.37052	0.618000	0.50648	0.589000	0.27658	0.998000	0.33993	0.726000	0.34967	0.1879:0.0:0.643:0.1691	4.758	0.12469	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	35	chr2	238334015	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.823;DP=687;ExcessHet=0;FS=2.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.359;SOR=0.899	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1097	18	0	1	0
chr2	239102883	239102883	C	T	exonic	HDAC4	.	nonsynonymous SNV	HDAC4:NM_001378414:exon16:c.G2126A:p.R709H,HDAC4:NM_001378415:exon16:c.G2126A:p.R709H,HDAC4:NM_001378416:exon16:c.G2111A:p.R704H,HDAC4:NM_001378417:exon16:c.G2111A:p.R704H,HDAC4:NM_006037:exon16:c.G2111A:p.R704H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810	0.315076119279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384258636	7.526e-06	7.524e-06	4.084e-06	1.1e-05	2.519e-05	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	0	2.319e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.01	0.86067	M	-0.59	0.71543	T	-4.76	0.80340	D	0.842	0.84609	0.644	0.92465	D	0.672	0.88620	D	10	0.89939004	0.89297	D	0.315076	0.91304	D	0.810	0.93854	0.71	0.84601	0.918591304824	0.91776	0.854970157755187	0.85460	2.12076249528	0.95014	0.79033613205	0.80494	T	0.90116	0.98062	D	0.38989	0.89318	D	0.322273	0.89184	D	0.999520659446716	0.97759	D	0.995613	0.98457	D	0.92185384	0.93427	0.7833337	0.87232	0.92185384	0.93428	0.7833337	0.87233	-16.06	0.97849	D	0.9651329704172128	0.98878	0.495	0.72332	A	.;.	.;.	5.341512	0.89624	31	0.99955249080484909	0.99969	0.98110	0.79682	D	AEFBI	.	.	.	0.925300192107407	0.92943	11.72352	0.817827200965968	0.91002	10.67208	0.999999999999946	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.77	4.77	0.60425	7.539000	0.80984	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.172	0.89680	808	0.43318	Histone deacetylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	964.33	33	chr2	239102883	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=718;ExcessHet=0;FS=4.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.803;SOR=0.371	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	18	0	1	0
chr2	240045709	240045709	G	A	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.C364T:p.R122C	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.00964350842777	.	.	0.0003	0	0	0.0010	0	0.0003	0	0.0004	3.84e-05	1	26028	rs199947939	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	7.01e-05	0	0.0005	5.699e-05	0.0004	9.95e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0.0001	0.0005	0.0004	0.009	0.57480	D	0.0	0.92824	D	0.218	0.30213	B	0.066	0.27432	B	0.000221	0.47681	D	0.000000	0.999815	0.49394	D	2.55	0.74443	M	-1.09	0.77206	T	-6.79	0.92863	D	0.234	0.26354	-0.1151	0.79749	T	0.422	0.76710	T	10	0.18081683	0.33283	T	0.009644	0.25199	T	0.458	0.75619	.	.	0.921780773804	0.92098	0.8418669633792113	0.84146	1.19150631811	0.80291	0.244575038552	0.03218	T	0.118567	0.43948	T	-0.19024	0.22224	T	-0.151359	0.59123	T	0.13862239485144	0.16156	T	0.822518	0.48242	T	0.34686038	0.56821	0.45574844	0.68361	0.34686038	0.56822	0.45574844	0.68362	-6.312	0.48817	T	.	.	0.198	0.42126	B	.;.	.;.	3.905732	0.56920	23.8	0.99772772311824798	0.86088	0.95385	0.64513	D	AEFDGBI	0.644703	0.62086	D	0.156598630829419	0.49124	3.116414	0.224790299335864	0.51227	3.307041	0.94509557818108	0.27645	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.96	3.96	0.45097	3.391000	0.52271	-0.000000	0.13247	0.669000	0.69127	1.000000	0.71638	0.000000	0.08366	0.819000	0.38590	0.0:0.0:1.0:0.0	14.327	0.66084	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1069.33	34	chr2	240045709	.	G	A	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.83;DP=1194;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.26;MQRankSum=0.089;QD=16.2;ReadPosRankSum=-2.789;SOR=1.153	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr2	240046030	240046030	C	T	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.G43A:p.V15M	.	415	1105	2	0	0	2	0.000904159	.	.	.	3367355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00342251321051	0.0002	0.000599042	0.0005	0	0	0	0.0005	0.0006	0	0.0008	0.0004657	72	154602	rs200327452	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0010	5.976e-05	0.0002	0.0039	0	0.0004	0.0003	0.0003	0.0008	0.0013	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	6.537e-05	0.0046	0.0002	9.427e-05	0	0.0002	0.0005	0.0012	0.064	0.36509	T	0.062	0.45318	T	0.236	0.30770	B	0.081	0.28987	B	0.765398	0.09589	U	0.825249	1	0.08975	N	0.93	0.23535	L	5.32	0.01079	T	-0.4	0.13805	N	0.04	0.01347	-0.9392	0.42743	T	0.005	0.01578	T	10	0.00798592	0.00181	T	0.003423	0.07694	T	0.066	0.19193	.	.	0.0846915920261	0.08053	0.05659280976282616	0.05600	0.812701319876	0.66811	0.230189681053	0.01982	T	0.006514	0.05941	T	-0.69024	0.00042	T	-0.788886	0.02195	T	0.0273453657955827	0.01593	T	0.718228	0.33111	T	0.039347447	0.05414	0.08618407	0.19951	0.039347447	0.05414	0.08618407	0.19950	-4.471	0.30507	T	.	.	0.147	0.32469	B	.;.	.;.	1.052163	0.14333	10.91	0.93918300916545416	0.23958	0.07212	0.13237	N	AEFDGBI	0.082022	0.16603	N	-0.995352723524068	0.08703	0.4090556	-1.01536503288813	0.09447	0.4700561	0.00165441506172001	0.08750	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.03	-1.46	0.08338	-1.536000	0.02312	-20.000000	0.00162	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.520000	0.29475	0.0:0.172:0.828:0.0	19.626	0.95672	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2007.33	34	chr2	240046030	.	C	T	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.636;DP=1222;ExcessHet=0;FS=4.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=-0.273;QD=15.44;ReadPosRankSum=0.787;SOR=1.119	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr2	240129931	240129931	G	A	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.C361T:p.R121W	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0028	0.00139776	0.0051	0.0012	0.0050	0	0.0073	0.0056	0.0112	0.0071	0.0047024	727	154602	rs115914450	0.0041	0.0041	0.0040	0.0042	0.0078	0.0040	0.0040	0.0073	0.0071	0.0007	0.0027	0.0030	7.557e-05	0.0072	0.0040	0.0040	0.0038	0.0078	0.0031	0.0031	0.0032	0.0030	0.0044	0.0028	0.0028	0.0039	0.0037	0.0008	0	0.0024	0.0043	0.0002	0.0063	0.0034	0.0043	0.0014	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.63	0.00629	N	0.207	0.22998	-1.0490	0.14677	T	0.049	0.20868	T	7	0.00360775	0.00065	T	.	.	.	0.027	0.05988	.	.	0.0884992946249	0.08302	0.060819580912718274	0.06021	0.195389630327	0.21877	0.206911593676	0.00687	T	.	.	.	-0.671541	0.00054	T	-0.734091	0.04145	T	0.00930137150031257	0.00118	T	0.435556	0.11926	T	.	.	.	.	.	.	.	.	-5.393	0.40852	T	.	.	0.366	0.57573	A	.	.	-0.254570	0.02823	0.391	0.78456567122932019	0.12309	0.00329	0.01719	N	AEFBCI	0.032994	0.03832	N	-2.02558438502064	0.00186	0.007984023	-2.19083033208253	0.00117	0.005156783	0.999998989451334	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	1.54	-3.09	0.05006	-2.417000	0.01112	-0.583000	0.08366	-2.444000	0.00282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1797:0.1277:0.4403:0.2524	1.715	0.02724	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007078	0.005051	0.002725	0.005848	0.000000	0.008621	0.024540	0.003817	0.02632	3126.33	37	chr2	240129931	.	G	A	3126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=927;ExcessHet=0;FS=4.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.261;SOR=0.486	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	18	0	1	0
chr2	240130020	240130020	C	G	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.G272C:p.G91A	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0037	0.0115815	0.0101	0.0018	0.0033	0.0002	0.0008	0.0042	0.0144	0.0515	0.0086286	1334	154602	rs115716357	0.0059	0.0059	0.0047	0.0071	0.0470	0.0058	0.0057	0.0458	0.0453	0.0010	0.0030	0.0193	0.0001	0.0005	0.0118	0.0030	0.0078	0.0470	0.0041	0.0042	0.0038	0.0045	0.0462	0.0039	0.0038	0.0413	0.0393	0.0008	0.0055	0.0044	0.0181	0	0.0003	0.0102	0.0032	0.0062	0.0462	0.0	0.91255	D	0.0	0.92824	D	0.337	0.33382	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.78	0.42001	N	0.215	0.24010	-1.0377	0.18016	T	0.037	0.15899	T	7	0.0024957657	0.00038	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.047931641576438616	0.04736	0.202601885681	0.22681	0.344620317221	0.17126	T	.	.	.	-0.624069	0.00104	T	-0.633438	0.10156	T	0.0118260331577385	0.00183	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.145	0.31931	B	.	.	0.147951	0.05405	1.883	0.98719788304269318	0.45186	0.05368	0.11229	N	AEFDBCI	0.027371	0.02223	N	-0.863289464914987	0.11724	0.5673902	-1.02932197752064	0.09144	0.4532831	0.928712867865185	0.26940	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	1.48	0.499	0.16119	-0.052000	0.11821	-1.597000	0.05092	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7043:0.0:0.2957	3.479	0.07160	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022681	0.035354	0.014946	0.014706	0.100000	0.008621	0.012270	0.041667	0.02632	1423.33	37	chr2	240130020	.	C	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=828;ExcessHet=0;FS=3.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.715;SOR=0.967	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	18	0	1	0
chr2	240462223	240462223	C	T	exonic	GPC1	.	nonsynonymous SNV	GPC1:NM_002081:exon3:c.C358T:p.R120W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.162938050928	.	.	3.13e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs752501624	4.809e-06	8.209e-06	4.097e-06	5.53e-06	0.0004	2e-06	1.29e-06	6.29e-05	2.595e-05	0	0	0	0	0	0.0004	1.804e-06	1.665e-05	2.332e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.542e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.542e-05	0	0	0	0	0	0	0	0.003	0.72154	D	0.008	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.735027	0.06393	N	1.148330	0.989397	0.40944	D	2.75	0.80375	M	0.63	0.73631	T	-5.9	0.89871	D	0.576	0.59816	-0.5912	0.65173	T	0.341	0.70664	T	10	0.46243423	0.59367	T	0.162938	0.84239	D	0.249	0.55752	0.477	0.55502	0.958154008984	0.95770	0.46738886837157767	0.46657	0.61274772462	0.55863	0.497827529907	0.38525	T	0.408	0.76367	T	0.0378671	0.56765	T	-0.183383	0.56207	T	0.926035046577454	0.58809	D	0.953205	0.82322	D	0.39391917	0.60309	0.42463577	0.66297	0.39391917	0.60309	0.42463577	0.66297	-10.08	0.74389	D	.	.	0.130	0.28578	B	.;.;.;.;.	.;.;.;.;.	4.488348	0.70083	25.5	0.99872763297173517	0.94989	0.58466	0.30649	D	AEFBCI	0.662225	0.63217	D	0.208150566227671	0.51592	3.339347	-0.00513904315150558	0.39482	2.341687	0.999444463582638	0.39736	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.1	3.1	0.34780	-0.070000	0.11483	2.014000	0.30178	0.543000	0.25316	0.000000	0.06391	0.998000	0.33993	0.452000	0.27939	0.0:1.0:0.0:0.0	12.012	0.52588	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	43	chr2	240462223	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-1.094;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr2	240529254	240529254	G	A	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354024:exon4:c.C469T:p.R157W,ANKMY1:NM_016552:exon4:c.C469T:p.R157W,ANKMY1:NM_001282771:exon5:c.C736T:p.R246W,ANKMY1:NM_001354023:exon6:c.C736T:p.R246W	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0183285849306	0.0032	0.00159744	0.0019	0.0035	0.0005	0	0.0002	0.0023	0.0022	0.0022	0.0018628	288	154602	rs141683622	0.0017	0.0017	0.0016	0.0017	0.0231	0.0016	0.0016	0.0199	0.0187	0.0027	0.0015	0.0105	5.038e-05	0.0004	0.0231	0.0013	0.0031	0.0022	0.0023	0.0023	0.0023	0.0024	0.0031	0.0021	0.0021	0.0026	0.0024	0.0030	0	0.0020	0.0127	0	0.0004	0.0204	0.0018	0.0047	0.0031	0.155	0.30943	T	0.014	0.76473	D	0.997	0.70673	D	0.507	0.47859	P	0.877026	0.07211	N	1.063240	1	0.81001	D	2.33	0.66821	M	0.97	0.42502	T	-3.54	0.76822	D	0.545	0.57177	-0.9548	0.40131	T	0.157	0.48942	T	10	0.0055651963	0.00123	T	0.018329	0.40357	T	0.235	0.53788	.	.	0.744673418284	0.74237	0.6798103662453437	0.67920	0.406304590416	0.41509	0.220648571849	0.01348	T	0.18545	0.53842	T	-0.411645	0.01938	T	-0.367126	0.37225	T	0.0255231670118667	0.01342	T	0.892111	0.62800	D	0.22641642	0.45322	0.12773886	0.30744	0.22641642	0.45322	0.12773886	0.30743	-9.809	0.72760	D	.	.	0.130	0.29995	B	.;.;.;.	.;.;.;.	2.621760	0.34075	19.52	0.99834612356398045	0.91628	0.76334	0.37430	D	AEFBI	0.391756	0.47007	N	0.0172032028497385	0.42637	2.572806	-0.0876661890152635	0.35898	2.082474	0.011544007067625	0.12200	0.615465	0.37627	0	0.653731	0.59785	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.06	4.15	0.47978	1.303000	0.33075	1.460000	0.26674	0.676000	0.76740	0.790000	0.29595	0.132000	0.23010	0.205000	0.22041	0.0:0.0:0.8336:0.1664	12.705	0.56423	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.024457	0.055556	0.000000	0.034483	0.003049	0.000000	0.05263	3478.83	33	chr2	240529254	.	G	A	3478.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.454;DP=911;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.716;SOR=0.699	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1288	17	0	2	0
chr2	240568650	240568650	C	T	exonic	RNPEPL1	.	nonsynonymous SNV	RNPEPL1:NM_018226:exon1:c.C64T:p.P22S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.313e-06	4.789e-06	4.35e-06	0	0.0002	3.9e-07	1.4e-07	.	.	0	0	0	0.0002	0	0	1.276e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	0.06445	T	-6.53	0.91741	D	.	.	.	.	.	.	.	.	.	0.34651154	0.51604	T	.	.	.	.	.	.	.	.	.	0.4044165718094861	0.40357	.	.	0.779976844788	0.78924	T	0.10643	0.41776	T	.	.	.	.	.	.	.	.	.	0.460354	0.13329	T	0.09360842	0.21989	0.23512913	0.48748	0.09360842	0.21988	0.23512913	0.48747	-5.426	0.41169	T	.	.	0.096	0.15296	B	.	.	2.346611	0.30078	18.33	0.98223082288416985	0.39316	0.06123	0.12101	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999993136	0.74766	0.11394	0.02926	0	0.033551	0.00054	0	0.125351	0.03401	0	0.104772	0.03119	1	0.164824	0.28485	1.92	1.92	0.24912	0.669000	0.24823	1.926000	0.29741	0.368000	0.20244	0.005000	0.17040	0.990000	0.31317	0.833000	0.39279	0.0:1.0:0.0:0.0	9.451	0.37891	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.06	2	chr2	240568650	.	C	T	31.06	.	AC=2;AF=0.056;AN=36;DP=91;ExcessHet=0;FS=0;InbreedingCoeff=0.4408;MLEAC=1;MLEAF=0.028;MQ=60;QD=15.53;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,213	17	1	0	1
chr2	240591997	240591997	G	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon4:c.G535A:p.G179S,CAPN10:NM_023085:exon4:c.G535A:p.G179S	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.361217143378	0.0003	0.000199681	0.0001	0.0005	0	0	0	7.893e-05	0	0.0001	0.00011	17	154602	rs139668112	7.871e-05	7.867e-05	6.537e-05	9.219e-05	0.0003	6.67e-05	6.205e-05	0.0001	7.817e-05	8.961e-05	0.0002	0	2.519e-05	9.478e-05	0.0003	6.025e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0008	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.695	0.94570	H	-0.19	0.65931	T	-5.19	0.87911	D	0.969	0.97961	0.851	0.95045	D	0.806	0.93446	D	10	0.9155197	0.90913	D	0.361217	0.92516	D	0.844	0.95138	.	.	0.906106087035	0.90517	0.8983753291587085	0.89808	1.11030858762	0.78038	0.749133825302	0.74318	T	0.870032	0.97185	D	0.193681	0.73303	D	0.319868	0.89086	D	0.972591757774353	0.69760	D	0.983602	0.97198	D	0.8417087	0.86731	0.7930256	0.87833	0.8417087	0.86732	0.7930256	0.87834	-14.688	0.95558	D	.	.	0.443	0.66208	A	.;.;.;.	.;.;.;.	4.778688	0.77428	26.7	0.99773828673313325	0.86174	0.98238	0.80821	D	AEFBI	0.880798	0.80768	D	0.765166112599782	0.83888	8.13709	0.609970443295341	0.75664	6.350542	0.999999409486956	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	8.959000	0.92953	9.646000	0.81159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.415	0.66711	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1466.33	34	chr2	240591997	.	G	A	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.591;DP=721;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-1.84;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr2	240592060	240592060	C	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon4:c.C598A:p.P200T,CAPN10:NM_023085:exon4:c.C598A:p.P200T	.	0	1512	10	0	0	10	0.00329598	.	.	.	733323	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.122	.	0.0007	0.00838658	0.0047	0.0007	0.0016	0.0540	0	0.0007	0.0062	0.0009	0.0034346	531	154602	rs3792268	0.0022	0.0022	0.0023	0.0021	0.0499	0.0022	0.0021	0.0480	0.0473	0.0013	0.0015	0	0.0499	0.0001	0.0033	0.0008	0.0025	0.0013	0.0021	0.0021	0.0018	0.0024	0.0387	0.0019	0.0018	0.0343	0.0326	0.0006	0	0.0014	0	0.0387	0	0.0034	0.0008	0.0043	0.0025	0.144	0.25255	T	0.171	0.30339	T	0.001	0.09854	B	0.002	0.06944	B	0.953518	0.08271	N	0.978492	1	0.08975	N	1.14	0.29013	L	-2.19	0.86815	D	-2.23	0.52776	N	0.058	0.13769	-0.7691	0.56907	T	0.189	0.53960	T	10	0.0033745766	0.00059	T	.	.	.	0.122	0.33800	.	.	0.866183225784	0.86488	0.33931110069592474	0.33844	0.38469603296	0.39763	0.339198350906	0.16318	T	0.184771	0.53753	T	-0.458986	0.00997	T	-0.390343	0.34511	T	0.00510928330171263	0.00055	T	0.60284	0.23898	T	0.061425317	0.12719	0.044545412	0.05795	0.061425317	0.12719	0.044545412	0.05795	-4.262	0.29106	T	.	.	0.069	0.02993	B	.;.;.;.	.;.;.;.	0.018792	0.04415	1.151	0.90999501848006625	0.20249	0.02530	0.07040	N	AEFBI	0.050226	0.08758	N	-1.00029555709928	0.08598	0.4037346	-1.04629914209216	0.08785	0.4336137	0.139644435560318	0.17248	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.37	1.46	0.21769	1.134000	0.31055	-0.362000	0.09668	-0.222000	0.07959	0.501000	0.26963	0.000000	0.08366	0.000000	0.00833	0.364:0.5343:0.0:0.1018	5.105	0.14111	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.;Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.040404	0.004087	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1620.33	34	chr2	240592060	.	C	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.864;DP=747;ExcessHet=0;FS=2.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.029;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr2	240596469	240596469	G	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon8:c.G1429A:p.A477T	.	0	1519	3	0	0	3	0.000986518	.	.	.	697466	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.234	.	0.0096	0.00938498	0.0027	0.0308	0.0010	0	0	6.036e-05	0	0.0001	0.0025355	392	154602	rs148303768	0.0009	0.0009	0.0010	0.0008	0.0305	0.0009	0.0009	0.0289	0.0283	0.0305	0.0019	0	0	0	0.0033	8.638e-05	0.0017	6.958e-05	0.0087	0.0088	0.0087	0.0087	0.0304	0.0083	0.0082	0.0290	0.0285	0.0304	0	0.0032	0	0	0	0	0.0001	0.0047	0	0.365	0.11732	T	0.026	0.55759	D	0.485	0.49185	P	0.312	0.41825	B	0.063228	0.22041	N	0.450508	1	0.08975	N	1.08	0.27187	L	-2.25	0.87272	D	-0.94	0.25118	N	0.211	0.23506	-0.7367	0.58621	T	0.162	0.49698	T	10	0.0035008192	0.00062	T	.	.	.	0.234	0.53644	.	.	0.865929765651	0.86463	0.4056280234822578	0.40478	0.419378779789	0.42491	0.332485675812	0.15310	T	0.201279	0.55911	T	-0.48952	0.00654	T	-0.453625	0.27296	T	0.00861568848828911	0.00105	T	0.752925	0.37500	T	0.03343307	0.03561	0.04511337	0.05999	0.03343307	0.03561	0.04511337	0.05999	0.464	0.00220	T	.	.	0.068	0.03736	B	.;.	.;.	0.853419	0.12254	8.799	0.91831074649655531	0.21141	0.38293	0.25956	N	AEFDBCI	0.178096	0.30535	N	-0.594438360757651	0.19112	0.9977576	-0.694170453463583	0.17105	0.9080601	0.999314912890937	0.39113	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	0.925	0.18550	2.652000	0.46347	0.106000	0.14715	0.676000	0.76740	0.283000	0.25169	0.000000	0.08366	0.203000	0.21983	0.1994:0.0:0.6341:0.1666	4.915	0.13196	994	0.00715	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.005051	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1442.33	36	chr2	240596469	.	G	A	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=746;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.58;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1460	18	0	1	0
chr2	240682704	240682704	-	C	exonic	AQP12B	.	frameshift insertion	AQP12B:NM_001102467:exon1:c.133dupG:p.V45Gfs*26	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.373e-05	0.0001	0	0	0	4.605e-05	0	0	5.17e-05	8	154602	rs774356588	0.0002	0.0004	0.0002	0.0002	0.0056	0.0002	0.0002	0.0049	0.0047	0.0056	0.0004	0	0	0	0.0002	6.297e-05	0.0002	0.0008	0.0024	0.0029	0.0023	0.0025	0.0083	0.0022	0.0021	0.0075	0.0073	0.0083	0	0.0007	0	0	0	0	0.0001	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	604.29	105	chr2	240682704	.	A	AC	604.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=1384;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.17;MQRankSum=-9.43;QD=5.76;ReadPosRankSum=2.27;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1433:.	18	0	1	0
chr2	240691981	240691981	G	A	exonic	AQP12A	.	nonsynonymous SNV	AQP12A:NM_198998:exon1:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00390486697223	0.0012	.	0.0007	0.0024	0.0005	0.0004	0.0002	0.0007	0.0011	0.0002	0.0012613	195	154602	rs149487583	9.691e-05	0.0071	9.302e-05	0.0001	0.0007	8.359e-05	7.864e-05	0.0005	0.0004	0.0003	0.0007	0	0.0002	3.76e-05	0	7.111e-05	0.0001	0.0001	0.0001	0.0004	0.0002	6.943e-05	0.0003	7.3e-05	6.018e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	5.961e-05	0	0	0.166	0.27783	T	0.285	0.21343	T	0.995	0.67487	D	0.586	0.50343	P	0.140848	0.18296	N	0.556195	0.81014	0.34629	D	2.505	0.72935	M	2.8	0.11082	T	-1.4	0.43906	N	0.22	0.24634	-1.1056	0.03476	T	0.007	0.02399	T	10	0.033152044	0.01483	T	0.003905	0.09180	T	0.099	0.28413	.	.	0.208816687407	0.20498	0.3042102624337775	0.30334	0.446053434822	0.44485	0.615734934807	0.55125	T	0.174252	0.52342	T	-0.4883	0.00664	T	-0.530534	0.19234	T	0.0208558782861143	0.00786	T	0.789521	0.42989	T	0.09934852	0.23444	0.079486035	0.17899	0.09934852	0.23444	0.079486035	0.17898	-3.612	0.18031	T	.	.	0.106	0.20196	B	.;.	.;.	2.857755	0.37752	20.6	0.99896397487963451	0.96895	0.68492	0.33823	D	AEFDI	0.152951	0.27772	N	-0.0309426049442125	0.40458	2.402967	-0.144442879842436	0.33623	1.925227	0.0683590927609874	0.15455	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.43	2.43	0.28797	2.260000	0.42923	4.254000	0.42773	0.591000	0.32079	0.525000	0.27150	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	10.601	0.44555	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005066	0.000000	0.008197	0.000000	0.000000	0.000000	0.009202	0.003846	0.02632	980.33	36	chr2	240691981	.	G	A	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.124;DP=1201;ExcessHet=0;FS=6.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-10.46;QD=6.01;ReadPosRankSum=3.59;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1222:.	18	0	1	0
chr2	240742970	240742970	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379637:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379639:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379640:exon32:c.C3293T:p.S1098L,KIF1A:NM_001379641:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379648:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379649:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379650:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379651:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379653:exon32:c.C3296T:p.S1099L,KIF1A:NM_004321:exon32:c.C3296T:p.S1099L,KIF1A:NM_001320705:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330289:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330290:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379632:exon33:c.C3548T:p.S1183L,KIF1A:NM_001379633:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379634:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379635:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379638:exon33:c.C3323T:p.S1108L,KIF1A:NM_001379642:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379645:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379646:exon33:c.C3398T:p.S1133L,KIF1A:NM_001244008:exon34:c.C3599T:p.S1200L,KIF1A:NM_001379631:exon34:c.C3674T:p.S1225L	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	450897	not_provided|Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9	MedGen:C3661900|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0588993988299	.	.	9.144e-05	0.0003	0	0	0	0.0001	0	8.012e-05	3.84e-05	1	26028	rs763750448	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.979e-05	6.735e-05	0	2.523e-05	1.889e-05	0	0.0002	0.0002	5.834e-05	7.228e-05	7.223e-05	7.707e-05	6.726e-05	0.0001	3.971e-05	3.127e-05	6.803e-05	5.087e-05	4.827e-05	0	0	0	0	0	0	0.0001	0	0	0.356	0.21968	T	0.147	0.34241	T	0.386	0.35064	B	0.029	0.21540	B	0.016190	0.28043	U	0.336375	0.999269	0.46490	D	1.555	0.39373	L	-0.97	0.75670	T	-3.01	0.62518	D	0.554	0.60241	-0.4509	0.70370	T	0.280	0.65139	T	10	0.14887118	0.28184	T	0.058899	0.67480	D	0.206	0.49396	.	.	0.549535270781	0.54609	0.3348749960511559	0.33400	0.38830470761	0.40095	0.683194100857	0.64728	T	0.317179	0.68866	T	-0.183853	0.23165	T	-0.222433	0.52503	T	0.0407920870069119	0.03834	T	0.974203	0.90777	D	0.11106671	0.26247	0.12556934	0.30253	0.11106671	0.26247	0.12556934	0.30252	-12.136	0.85507	D	.	.	0.115	0.44122	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.565633	0.71987	25.8	0.99816065102214602	0.89973	0.80256	0.39942	D	AEFDBCI	0.427374	0.49135	N	0.00426122267347775	0.42049	2.526288	0.120965630794193	0.45622	2.822173	0.999273439629424	0.38974	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.604944	0.38103	0	.	.	4.6	4.6	0.56512	3.457000	0.52771	8.410000	0.77125	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.782	0.88436	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1073.33	103	chr2	240742970	.	G	A	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.058;DP=713;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.106;SOR=0.934	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr2	240746156	240746156	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon28:c.G2782A:p.V928M,KIF1A:NM_001379637:exon28:c.G2857A:p.V953M,KIF1A:NM_001379639:exon28:c.G2782A:p.V928M,KIF1A:NM_001379640:exon28:c.G2782A:p.V928M,KIF1A:NM_001379641:exon28:c.G2782A:p.V928M,KIF1A:NM_001379648:exon28:c.G2857A:p.V953M,KIF1A:NM_001379649:exon28:c.G2782A:p.V928M,KIF1A:NM_001379650:exon28:c.G2782A:p.V928M,KIF1A:NM_001379651:exon28:c.G2782A:p.V928M,KIF1A:NM_001379653:exon28:c.G2782A:p.V928M,KIF1A:NM_004321:exon28:c.G2782A:p.V928M,KIF1A:NM_001320705:exon29:c.G2809A:p.V937M,KIF1A:NM_001330289:exon29:c.G2809A:p.V937M,KIF1A:NM_001330290:exon29:c.G2884A:p.V962M,KIF1A:NM_001379632:exon29:c.G3034A:p.V1012M,KIF1A:NM_001379633:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379634:exon29:c.G2884A:p.V962M,KIF1A:NM_001379635:exon29:c.G2884A:p.V962M,KIF1A:NM_001379638:exon29:c.G2809A:p.V937M,KIF1A:NM_001379642:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379645:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379646:exon29:c.G2884A:p.V962M,KIF1A:NM_001244008:exon30:c.G3085A:p.V1029M,KIF1A:NM_001379631:exon30:c.G3160A:p.V1054M	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	244353	Hereditary_spastic_paraplegia_30|not_provided|Intellectual_disability|Hereditary_spastic_paraplegia|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_specified|KIF1A-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0770635392542	0.0019	0.000599042	0.0022	0.0004	0.0021	0.0009	0	0.0040	0	0.0004	0.0011125	172	154602	rs183359489	0.0026	0.0025	0.0027	0.0025	0.0093	0.0025	0.0025	0.0073	0.0066	0.0007	0.0009	3.949e-05	5.427e-05	0.0005	0.0093	0.0031	0.0018	9.979e-05	0.0015	0.0015	0.0016	0.0014	0.0026	0.0014	0.0013	0.0022	0.0021	0.0006	0	0.0018	0	0	9.409e-05	0.0034	0.0026	0.0009	0	0.063	0.37750	T	0.181	0.29346	T	0.776	0.77913	P	0.143	0.66904	B	0.081690	0.20851	U	0.336055	0.977249	0.25325	N	0.895	0.22405	L	-0.72	0.72994	T	-0.88	0.23808	N	0.191	0.20925	-0.6336	0.63418	T	0.351	0.71470	T	10	0.0064137876	0.00145	T	0.077064	0.72681	D	0.162	0.41843	.	.	0.571805964	0.56847	0.3413837928640317	0.34051	0.454739614007	0.45157	0.490992546082	0.37576	T	0.161617	0.50594	T	-0.392494	0.02592	T	-0.338357	0.40531	T	0.0164996068946533	0.00414	T	0.889911	0.62511	D	0.08152843	0.18737	0.103772976	0.24907	0.07657588	0.17326	0.08800213	0.20491	-6.24	0.54383	T	.	.	0.086	0.14523	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.683811	0.52454	23.2	0.99752932778855286	0.84382	0.37935	0.25874	N	AEFBCI	0.345184	0.44042	N	-0.0975148357127983	0.37500	2.182663	-0.117471366012413	0.34686	1.998013	0.961930002833746	0.28587	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	2.206000	0.42416	2.091000	0.30548	0.549000	0.26987	0.005000	0.17040	0.007000	0.19602	0.757000	0.36037	0.0:1.0:0.0:0.0	16.018	0.80257	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.005051	0.002732	0.014706	0.000000	0.017241	0.003067	0.000000	0.02632	994.33	38	chr2	240746156	.	C	T	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=734;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-0.492;SOR=1.008	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	18	0	1	0
chr2	240761338	240761338	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon23:c.C2129T:p.A710V,KIF1A:NM_001379633:exon23:c.C2129T:p.A710V,KIF1A:NM_001379636:exon23:c.C2129T:p.A710V,KIF1A:NM_001379637:exon23:c.C2204T:p.A735V,KIF1A:NM_001379639:exon23:c.C2129T:p.A710V,KIF1A:NM_001379640:exon23:c.C2129T:p.A710V,KIF1A:NM_001379641:exon23:c.C2129T:p.A710V,KIF1A:NM_001379642:exon23:c.C2129T:p.A710V,KIF1A:NM_001379645:exon23:c.C2129T:p.A710V,KIF1A:NM_001379648:exon23:c.C2204T:p.A735V,KIF1A:NM_001379649:exon23:c.C2129T:p.A710V,KIF1A:NM_001379650:exon23:c.C2129T:p.A710V,KIF1A:NM_001379651:exon23:c.C2129T:p.A710V,KIF1A:NM_001379653:exon23:c.C2129T:p.A710V,KIF1A:NM_004321:exon23:c.C2129T:p.A710V,KIF1A:NM_001244008:exon24:c.C2156T:p.A719V,KIF1A:NM_001320705:exon24:c.C2156T:p.A719V,KIF1A:NM_001330289:exon24:c.C2156T:p.A719V,KIF1A:NM_001330290:exon24:c.C2231T:p.A744V,KIF1A:NM_001379631:exon24:c.C2231T:p.A744V,KIF1A:NM_001379634:exon24:c.C2231T:p.A744V,KIF1A:NM_001379635:exon24:c.C2231T:p.A744V,KIF1A:NM_001379638:exon24:c.C2156T:p.A719V,KIF1A:NM_001379646:exon24:c.C2231T:p.A744V	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1886846	Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0994101438901	8e-05	.	1.689e-05	0.0001	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs373868831	2.053e-06	2.052e-06	0	4.128e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.158	0.24372	T	0.401	0.14961	T	0.115	0.26429	B	0.105	0.31087	B	0.032204	0.25061	U	0.359742	1	0.81001	D	2.14	0.59869	M	-0.71	0.72889	T	-3.27	0.66436	D	0.514	0.54496	-0.6105	0.64382	T	0.297	0.66830	T	10	0.3130065	0.48756	T	0.09941	0.77103	D	0.125	0.34456	.	.	0.548741273365	0.54530	0.7493970559125758	0.74886	0.494919414214	0.48041	0.824671506882	0.85745	D	0.574425	0.85962	D	-0.147194	0.28751	T	-0.267064	0.48116	T	0.73923659324646	0.42696	D	0.981902	0.93870	D	0.33426064	0.55818	0.20144396	0.44124	0.33426064	0.55818	0.20144396	0.44123	-10.321	0.76744	D	0.17169803677073445	0.21656	0.879	0.86575	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.121079	0.61598	24.4	0.99814702363930397	0.89797	0.77950	0.38389	D	AEFBCI	0.599141	0.59227	D	0.0224895298074672	0.42879	2.591962	0.171391335708819	0.48286	3.046613	0.999668752195653	0.41534	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	5.05	5.05	0.67566	3.097000	0.49943	11.626000	0.93661	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1446:0.8554:0.0	14.834	0.69800	988	0.01987	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1307.33	33	chr2	240761338	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.595;DP=781;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.39;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N	Hyperoxaluria, primary, type 1, Autosomal recessive	4	1474	42	2	0	46	0.0153641	.	.	YES	200420	Primary_hyperoxaluria,_type_I|not_provided|not_specified	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008174	0.014620	0.000000	0.008621	0.018293	0.018939	0.05263	3115.81	97	chr2	240868891	.	C	A	3115.81	.	AC=2;AF=0.053;AN=38;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.12;SOR=1.609	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	1	0	0
chr2	240891751	240891751	G	A	exonic	MAB21L4	.	nonsynonymous SNV	MAB21L4:NM_001085437:exon2:c.C527T:p.A176V,MAB21L4:NM_001282921:exon2:c.C80T:p.A27V,MAB21L4:NM_024861:exon2:c.C23T:p.A8V	.	419	1089	14	0	0	14	0.00638686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0108186377131	0.0005	0.000998403	0.0009	0.0016	0.0007	0	0	0.0007	0.0034	0.0022	0.0007568	117	154602	rs201604905	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	0.0011	0.0003	0.0028	5.042e-05	0	0.0059	0.0003	0.0010	0.0025	0.0008	0.0008	0.0008	0.0007	0.0016	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0004	0.0017	0.0002	0	0.0034	0.0004	0.0009	0.0012	0.103	0.31682	T	0.164	0.33442	T	0.078	0.24389	B	0.012	0.16460	B	0.011502	0.29503	N	0.234705	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.77	0.41809	N	0.137	0.13484	-1.0287	0.20876	T	0.024	0.10419	T	10	0.0045983195	0.00096	T	0.010819	0.27789	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.35883695406420824	0.35797	0.0728121074558	0.08157	.	.	.	0.026109	0.19387	T	-0.607646	0.00131	T	-0.651476	0.08851	T	0.00406787252061537	0.00043	T	0.654235	0.26653	T	0.03601277	0.04350	0.046702866	0.06566	0.03601277	0.04350	0.046702866	0.06566	-2.855	0.08701	T	.	.	0.119	0.29941	B	.;.;.	.;.;.	0.580636	0.09490	6.269	0.93161620481933205	0.22814	0.03500	0.08672	N	AEFDBI	0.050115	0.08728	N	-1.03396349406728	0.07906	0.3688617	-1.09987671852482	0.07703	0.3757531	0.745550986779005	0.23279	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	0.325	0.15145	-0.372000	0.07559	-0.121000	0.11721	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4148:0.0:0.5852:0.0	6.846	0.23169	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1469.33	99	chr2	240891751	.	G	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.877;DP=1251;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.158;SOR=0.542	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr2	240935539	240935539	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.C2120T:p.A707V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs761142473	5.438e-05	7.456e-05	1.939e-05	9.194e-05	0.0012	4.371e-05	3.983e-05	0.0010	0.0009	0	0	0	0	0	0	0	0.0001	0.0012	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.173	0.30143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9768	0.35727	T	0.055	0.23186	T	6	0.074613184	0.11427	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.022431472784869202	0.02195	.	.	.	.	.	0.007746	0.07136	T	-0.511629	0.00491	T	-0.598052	0.12975	T	0.0226035825908184	0.00977	T	.	.	.	0.021017548	0.00684	0.06446892	0.12926	0.021017548	0.00684	0.06446892	0.12926	-4.083	0.25039	T	.	.	0.075	0.05360	B	.	.	-0.671474	0.01388	0.080	0.74557569486764563	0.10740	0.00772	0.03181	N	AEFBI	0.025195	0.01686	N	-0.892899404047256	0.11010	0.5290881	-1.06087053807356	0.08481	0.4172425	0.310628909818173	0.19283	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-3.61	0.04264	-0.826000	0.04536	-2.701000	0.03452	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1468:0.1531:0.0:0.7001	6.385	0.20757	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1109.33	36	chr2	240935539	.	C	T	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/0:29,0:29:78:0,78,1170	18	0	1	0
chr2	241096105	241096105	C	G	exonic	MTERF4	.	nonsynonymous SNV	MTERF4:NM_001330179:exon3:c.G475C:p.D159H,MTERF4:NM_182501:exon4:c.G1039C:p.D347H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0296055265371	7.7e-05	0.000798722	0.0006	0	8.649e-05	0.0017	0	1.499e-05	0	0.0037	0.0005563	86	154602	rs114751344	0.0003	0.0003	0.0003	0.0004	0.0039	0.0003	0.0003	0.0034	0.0033	0	4.473e-05	0	0.0039	0	0	7.196e-06	0.0003	0.0037	0.0001	0.0001	5.146e-05	0.0002	0.0039	9.751e-05	8.264e-05	0.0026	0.0021	0	0	0	0	0.0006	0	0	0	0	0.0039	0.029	0.54683	D	0.001	0.83351	D	0.789	0.44570	P	0.175	0.35598	B	.	.	.	.	1	0.21728	N	.	.	.	4.26	0.71662	T	-0.84	0.33598	N	0.165	0.22486	-1.0366	0.18357	T	0.092	0.35228	T	9	0.0040772557	0.00080	T	0.029606	0.52085	D	0.047	0.12962	.	.	0.251639045875	0.24756	0.09380180060682339	0.09312	0.187972154103	0.21122	0.268482208252	0.05944	T	0.158358	0.50134	T	-0.434789	0.01388	T	-0.398477	0.33560	T	0.0188786489436765	0.00598	T	0.333767	0.07077	T	0.104964055	0.24816	0.069946215	0.14801	0.104964055	0.24816	0.069946215	0.14800	-9.362	0.69997	D	.	.	0.167	0.39915	B	.;.;.	.;.;.	0.217757	0.06006	2.446	0.8752562802428866	0.17290	0.36364	0.25516	N	AEFDGBHCI	0.157767	0.28333	N	-0.822531985262485	0.12735	0.6227009	-0.933022795112395	0.11318	0.5758507	0.999999946853676	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	2.01	2.01	0.25568	0.186000	0.16787	-0.047000	0.12595	0.200000	0.17917	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:1.0:0.0:0.0	7.299	0.25583	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4466.81	34	chr2	241096105	.	C	G	4466.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.09;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	1	0	0
chr2	241209381	241209381	G	A	exonic	ANO7	.	nonsynonymous SNV	ANO7:NM_001370694:exon12:c.G1174A:p.A392T	.	.	.	.	.	.	.	.	.	.	.	4027975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.00894954701749	.	.	0.0001	0.0003	0.0017	0	0	0	0	0	3.23e-05	5	154602	rs759669755	9.096e-05	9.508e-05	7.906e-05	0.0001	0.0005	7.795e-05	7.33e-05	0.0003	0.0003	3.058e-05	0.0005	0	0.0003	1.996e-05	0	6.931e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	7.575e-05	6.28e-05	8.873e-05	5.587e-05	0.0002	0	0.0003	0	0.0004	0	0	5.878e-05	0	0.0002	0.042	0.41637	D	0.166	0.32783	T	0.21	0.29968	B	0.141	0.33616	B	0.351907	0.13802	N	0.642064	0.985073	0.24743	N	2.395	0.69210	M	-0.27	0.67367	T	-2.85	0.60029	D	0.432	0.49511	-0.7100	0.59952	T	0.293	0.66489	T	10	0.03400594	0.01594	T	0.00895	0.23583	T	0.173	0.43840	.	.	0.178374595973	0.17440	0.5662456989960888	0.56552	0.184314391142	0.20729	0.58602565527	0.50935	T	0.140649	0.47530	T	-0.389507	0.02710	T	-0.458884	0.26722	T	0.0693778899835401	0.08564	T	0.855714	0.54342	D	0.14770006	0.33752	0.23070215	0.48181	0.14770006	0.33752	0.23070215	0.48180	-7.278	0.56593	T	.	.	0.113	0.22135	B	.;.	.;.	1.845774	0.23451	16.02	0.96956346443551367	0.31759	0.15612	0.18997	N	AEFDBHCI	0.074074	0.14836	N	-0.789808604819024	0.13575	0.6697321	-0.888400858211384	0.12368	0.6358122	0.999996985067913	0.74766	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.36	2.48	0.29194	0.812000	0.26869	0.036000	0.13800	0.505000	0.23025	0.032000	0.20554	0.000000	0.08366	0.779000	0.36868	0.1104:0.0:0.8896:0.0	9.615	0.38850	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1491.33	35	chr2	241209381	.	G	A	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=752;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-1.299;SOR=0.79	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1298	18	0	1	0
chr2	241326003	241326003	C	A	exonic	SEPTIN2	.	nonsynonymous SNV	SEPTIN2:NM_001321032:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349288:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349290:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349302:exon3:c.C20A:p.T7N,SEPTIN2:NM_004404:exon3:c.C20A:p.T7N,SEPTIN2:NM_006155:exon3:c.C20A:p.T7N,SEPTIN2:NM_001008491:exon4:c.C20A:p.T7N,SEPTIN2:NM_001008492:exon4:c.C20A:p.T7N,SEPTIN2:NM_001282972:exon4:c.C125A:p.T42N,SEPTIN2:NM_001321029:exon4:c.C110A:p.T37N,SEPTIN2:NM_001321030:exon4:c.C20A:p.T7N,SEPTIN2:NM_001321035:exon4:c.C20A:p.T7N,SEPTIN2:NM_001349287:exon4:c.C185A:p.T62N,SEPTIN2:NM_001349289:exon4:c.C20A:p.T7N,SEPTIN2:NM_001349291:exon4:c.C20A:p.T7N,SEPTIN2:NM_001321031:exon5:c.C20A:p.T7N,SEPTIN2:NM_001321033:exon5:c.C20A:p.T7N,SEPTIN2:NM_001321034:exon5:c.C20A:p.T7N,SEPTIN2:NM_001282973:exon6:c.C20A:p.T7N	.	440	1081	0	1	0	2	0.000924214	.	.	.	2731502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0162922461467	7.7e-05	.	3.326e-05	0	8.691e-05	0	0	4.532e-05	0	0	2.59e-05	4	154602	rs374059214	2.808e-05	2.805e-05	2.589e-05	3.029e-05	0.0005	2.089e-05	1.88e-05	0.0001	7.555e-05	0	2.247e-05	0	0	0	0.0005	2.07e-05	9.945e-05	9.32e-05	3.286e-05	3.283e-05	5.14e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.158	0.25154	T	0.314	0.92824	T	0.309	0.32767	B	0.035	0.30479	B	0.087379	0.20537	N	0.554130	0.862842	0.81001	D	0.695	0.17993	N	0.69	0.64445	T	-0.53	0.75375	N	0.169	0.18103	-0.9126	0.46531	T	0.109	0.39439	T	10	0.14417681	0.27365	T	0.016292	0.37474	T	0.107	0.30369	.	.	0.487287018651	0.48362	0.47808324717026585	0.47728	0.820147628991	0.67127	0.411530196667	0.26669	T	0.103217	0.41167	T	-0.219967	0.17996	T	-0.371597	0.36702	T	0.0574198391825674	0.06757	T	0.788921	0.46599	T	0.08383279	0.19376	0.10847716	0.26130	0.08383279	0.19376	0.10847716	0.26130	-3.497	0.17987	T	.	.	0.068	0.07793	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.005522	0.40175	21.1	0.98132493433132373	0.38530	0.99138	0.91786	D	AEFBI	0.852688	0.76960	D	-0.075960258871649	0.38449	2.252099	0.187389539944584	0.49154	3.122161	0.999999999992236	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	3.899000	0.56000	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.567	0.99354	988	0.01987	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1123.33	33	chr2	241326003	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=726;ExcessHet=0;FS=5.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-3.399;SOR=1.267	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R,FARP2:NM_001282984:exon2:c.A134G:p.H45R,FARP2:NM_014808:exon2:c.A134G:p.H45R	.	427	1047	45	3	0	51	0.0237762	.	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009577	0.000000	0.002717	0.020468	0.000000	0.008621	0.012270	0.022727	0.02632	1518.33	41	chr2	241373241	.	A	G	1518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=874;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.146;SOR=0.796	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr2	241484296	241484296	C	T	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_014808:exon21:c.C2386T:p.R796W	.	420	1097	5	0	0	5	0.00227376	.	.	.	3253096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.718	0.209276204664	.	0.000199681	9.891e-05	9.619e-05	0.0003	0	0	4.497e-05	0	0.0003	8.41e-05	13	154602	rs200700734	6.157e-05	6.225e-05	5.173e-05	7.151e-05	0.0003	5.095e-05	4.715e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	5.216e-05	3.312e-05	0.0003	4.595e-05	4.593e-05	5.138e-05	4.027e-05	0.0002	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.81e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.96	0.70309	D	0.000259	0.46924	D	0.139885	0.982608	0.39912	D	2.63	0.76995	M	-1.08	0.77078	T	-5.17	0.83489	D	0.395	0.43610	0.284	0.87304	D	0.597	0.85648	D	10	0.6746839	0.70920	D	0.209276	0.87190	D	0.718	0.90011	.	.	0.814554111179	0.81281	0.6313428661758689	0.63068	0.343904063785	0.36312	0.306480020285	0.11376	T	0.649803	0.89360	D	-0.127447	0.31909	T	-0.124653	0.61418	T	0.746346771717072	0.43082	D	0.939406	0.77188	D	0.7430927	0.80469	0.53708726	0.73249	0.7430927	0.80471	0.53708726	0.73249	-10.787	0.78477	D	.	.	0.134	0.28976	B	.	.	4.417088	0.68379	25.2	0.99926894552240064	0.99103	0.88705	0.48760	D	AEFBI	0.709697	0.66370	D	0.564937004933761	0.70996	5.584315	0.479774366524855	0.66652	4.979921	0.64516135665358	0.22095	0.615465	0.37627	0	0.633656	0.55848	0	0.566861	0.19136	0	0.636168	0.56350	0	.	.	5.25	3.19	0.35720	4.455000	0.59813	0.476000	0.18759	0.587000	0.30956	1.000000	0.71638	0.993000	0.31925	0.211000	0.22211	0.4288:0.5712:0.0:0.0	12.427	0.54891	982	0.03397	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	98	chr2	241484296	.	C	T	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=729;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.193;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	18	0	1	0
chr2	241634014	241634014	G	A	exonic	THAP4	.	nonsynonymous SNV	THAP4:NM_015963:exon2:c.C143T:p.T48I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.11557647212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891659131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.999	0.77913	D	0.998	0.88582	D	0.001644	0.38382	N	0.221174	0.995697	0.42811	D	0.99	0.25021	L	-3.98	0.96277	D	-1.36	0.33798	N	0.708	0.71143	1.016	0.97469	D	0.896	0.96555	D	10	0.74060917	0.74930	D	0.115576	0.79480	D	0.640	0.86283	0.442	0.49811	0.986036891696	0.98588	0.3572613686981577	0.35640	1.39497567221	0.85071	0.805538952351	0.82808	D	0.422774	0.77374	T	0.211356	0.74956	D	0.0658217	0.74632	D	0.907368302345276	0.56163	D	0.787421	0.42665	T	0.1457358	0.33394	0.11479748	0.27712	0.1457358	0.33394	0.11479748	0.27711	-6.625	0.51244	T	.	.	0.129	0.27672	B	.	.	3.945835	0.57774	23.9	0.99909162124801898	0.97875	0.96618	0.70046	D	AEFDBI	0.766200	0.70245	D	0.647629528135833	0.76216	6.445571	0.646254958118646	0.78333	6.854974	0.999999995295803	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	4.234000	0.58458	9.614000	0.81092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.700	0.85205	970	0.06235	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1696.33	34	chr2	241634014	.	G	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=823;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-1.72;SOR=0.946	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	18	0	1	0
chr2	241653596	241653596	G	A	exonic	ATG4B	.	nonsynonymous SNV	ATG4B:NM_013325:exon4:c.G269A:p.R90Q,ATG4B:NM_178326:exon4:c.G269A:p.R90Q	.	428	1066	27	1	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0074	0.00379393	0.0133	0.0019	0.0151	0	0.0038	0.0217	0.0203	0.0059	0.0054721	846	154602	rs143448469	0.0084	0.0084	0.0086	0.0082	0.0115	0.0083	0.0083	0.0094	0.0093	0.0012	0.0061	0.0085	0	0.0019	0.0115	0.0095	0.0081	0.0058	0.0063	0.0063	0.0069	0.0056	0.0101	0.0060	0.0058	0.0095	0.0092	0.0020	0	0.0059	0.0089	0.0002	0.0014	0.0170	0.0101	0.0085	0.0052	0.161	0.31834	T	0.322	0.20100	T	0.556	0.38244	P	0.091	0.30945	B	0.000000	0.84330	D	0.047151	1	0.81001	D	2.23	0.63091	M	0.95	0.43279	T	-1.7	0.50992	N	0.368	0.42149	-1.0923	0.05159	T	0.069	0.28379	T	10	0.011255324	0.00247	T	.	.	.	0.139	0.37390	.	.	0.481781477641	0.47810	0.6773881101384202	0.67677	0.531207737867	0.50628	0.730025172234	0.71509	T	0.192883	0.54817	T	-0.431599	0.01450	T	-0.383344	0.35330	T	0.0161125259673247	0.00388	T	0.90111	0.76517	D	0.22813143	0.45527	0.14164001	0.33723	0.22813143	0.45527	0.14164001	0.33722	-10.691	0.78884	D	.	.	0.102	0.30291	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.449558	0.48029	22.5	0.99368769700867821	0.61326	0.86693	0.46028	D	AEFDGBHCI	0.595943	0.59030	D	-0.0734414435126395	0.38560	2.260309	0.0329078568499295	0.41254	2.475339	0.999999999999996	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	3.977000	0.56581	6.481000	0.55737	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0767:0.0:0.9233:0.0	13.453	0.60636	976	0.04745	.;.;.;.;.;.;.;.	GAL3ST2|AC114730.3	Adipose_Subcutaneous|Artery_Aorta	D2HGDH	Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007107	0.005208	0.009537	0.005882	0.000000	0.000000	0.009317	0.007634	0.07895	3393.79	36	chr2	241653596	.	G	A	3393.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.472;DP=820;ExcessHet=0.3672;FS=1.555;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.21;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	16	0	3	0
chr2	241678520	241678520	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320902:exon3:c.G331A:p.G111R,DTYMK:NM_001165031:exon4:c.G388A:p.G130R,DTYMK:NM_001320904:exon4:c.G403A:p.G135R,DTYMK:NM_012145:exon4:c.G460A:p.G154R,DTYMK:NM_001320905:exon5:c.G577A:p.G193R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00140212359867	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770798383	9.577e-06	1.026e-05	9.529e-06	9.626e-06	1.159e-05	5.56e-06	4.35e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.525	0.07140	T	0.521	0.10429	T	0.004	0.12183	B	0.003	0.08700	B	0.207286	0.16451	N	0.658943	1	0.08975	N	0.375	0.12094	N	1.0	0.41392	T	-0.83	0.22727	N	0.122	0.11340	-1.0570	0.12517	T	0.030	0.12892	T	10	0.056549966	0.06356	T	0.001402	0.02062	T	0.045	0.12272	0.429	0.47680	0.274431252636	0.27063	0.30412683750699876	0.30325	0.324506436646	0.34611	0.322048723698	0.13732	T	0.117323	0.43732	T	-0.288385	0.09799	T	-0.544364	0.17869	T	0.0202120886029221	0.00721	T	0.738226	0.35599	T	0.0966057	0.22757	0.06306565	0.12437	0.0966057	0.22756	0.06306565	0.12437	-3.725	0.19688	T	.	.	0.125	0.26419	B	.	.	-1.374652	0.00379	0.007	0.69556503133308745	0.09010	0.03794	0.09121	N	AEFBCI	0.062113	0.11920	N	-1.84483279675278	0.00444	0.01911525	-2.02771482007791	0.00267	0.01179967	0.999827516793063	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-10.1	0.00330	-0.129000	0.10493	-4.775000	0.01992	-2.739000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0819:0.4526:0.1799:0.2856	6.262	0.20114	970	0.06235	Thymidylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1320.33	33	chr2	241678520	.	C	T	1320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=871;ExcessHet=0;FS=4.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.35;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr2	241803765	241803765	C	T	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C796T:p.P266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00214314871601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.42	0.14116	T	0.238	0.30817	B	0.178	0.35748	B	0.037725	0.24367	N	0.344624	1	0.08975	N	2.03	0.55503	M	2.56	0.13673	T	-3.63	0.69714	D	0.152	0.15609	-1.0393	0.17526	T	0.036	0.15334	T	10	0.12764469	0.24275	T	0.002143	0.03989	T	0.039	0.10176	0.408	0.44230	0.132336055621	0.12781	0.2310309852957576	0.23018	1.13890927585	0.78860	0.69467318058	0.66376	T	0.05	0.28469	T	-0.252286	0.13819	T	-0.600168	0.12797	T	0.599838376045227	0.36394	D	0.355164	0.08047	T	0.17594758	0.38481	0.2919989	0.55225	0.17594758	0.38481	0.2919989	0.55225	-6.704	0.51840	T	0.4421168010077407	0.52742	0.098	0.16099	B	.	.	1.796136	0.22833	15.78	0.91361589645264818	0.20626	0.26999	0.23153	N	ALL	0.073717	0.14753	N	-0.642301814356422	0.17684	0.9121193	-0.706295112520465	0.16803	0.8906521	0.999999968276995	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	2.55	0.29757	0.027000	0.13512	0.094000	0.14556	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1301:0.6171:0.2528:0.0	11.152	0.47687	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1173.33	33	chr2	241803765	.	C	T	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.945;SOR=0.623	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1187,0,1368	18	0	1	0
chr2	241803822	241803822	C	A	exonic	GAL3ST2	.	nonsynonymous SNV	GAL3ST2:NM_022134:exon4:c.C853A:p.H285N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00331264291704	.	0.000199681	0.0008	0	0	0	0	0.0034	0	0	0.000414	64	154602	rs550417478	0.0025	0.0023	0.0025	0.0024	0.0027	0.0024	0.0024	0.0027	0.0026	0.0004	0.0010	0.0010	0	0.0060	0	0.0027	0.0017	0	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0006	0	0.0013	0.0012	0	0.0043	0	0.0028	0.0014	0	0.007	0.59928	D	0.016	0.60972	D	0.998	0.73220	D	0.96	0.70309	D	0.000004	0.62929	D	0.000000	0.976535	0.25368	N	3.46	0.92336	M	1.87	0.24085	T	-5.93	0.89029	D	0.582	0.60325	-0.8556	0.51577	T	0.184	0.53209	T	10	0.017413855	0.00371	T	0.003313	0.07359	T	0.140	0.37593	.	.	0.388653054685	0.38476	0.7189243869128571	0.71835	1.35702460636	0.84203	0.859146475792	0.90985	D	0.244861	0.61406	T	-0.392227	0.02603	T	-0.339548	0.40397	T	0.175163768142674	0.18924	T	0.863014	0.55864	D	0.91055506	0.92347	0.90017796	0.94988	0.91055506	0.92348	0.90017796	0.94989	-12.008	0.84891	D	0.9535990235067398	0.98370	0.553	0.66931	A	.	.	3.909195	0.56999	23.8	0.98292188295864824	0.39964	0.72089	0.35299	D	ALL	0.175455	0.30263	N	0.456445406331015	0.64569	4.714518	0.325236505867723	0.57027	3.867211	0.999999964915543	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.52	3.63	0.40741	1.268000	0.32665	3.491000	0.38715	0.524000	0.24156	0.790000	0.29595	1.000000	0.68203	0.681000	0.33571	0.0:0.8345:0.0:0.1655	9.571	0.38594	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002252	0.000000	0.001587	0.003185	0.000000	0.000000	0.003289	0.000000	0.02632	1008.33	33	chr2	241803822	.	C	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.828;DP=746;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.251;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr2	241816455	241816455	C	T	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.C901T:p.P301S,NEU4:NM_001167600:exon4:c.C862T:p.P288S,NEU4:NM_001167601:exon4:c.C862T:p.P288S,NEU4:NM_080741:exon4:c.C898T:p.P300S,NEU4:NM_001167602:exon5:c.C862T:p.P288S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00930186410867	.	.	4.769e-05	0	0	0	0	2.144e-05	0	0.0002	3.23e-05	5	154602	rs773964832	3.02e-05	3.01e-05	2.185e-05	3.865e-05	0.0004	2.289e-05	2.039e-05	0.0003	0.0002	0	6.753e-05	0	0	0	0	4.501e-06	8.308e-05	0.0004	5.908e-05	5.905e-05	6.423e-05	5.37e-05	0.0012	3.075e-05	2.208e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	0.404	0.11732	T	0.473	0.12176	T	0.0	0.09854	B	0.002	0.06944	B	0.810845	0.06826	N	1.080770	1	0.08975	N	-0.095	0.04716	N	-0.9	0.75001	T	-0.23	0.10656	N	0.054	0.02759	-0.9881	0.33077	T	0.147	0.47237	T	10	0.043589383	0.03225	T	0.009302	0.24413	T	0.091	0.26358	0.236	0.16608	0.227934060464	0.22382	0.10555269316953661	0.10485	0.048125126839	0.05251	0.480133891106	0.36075	T	0.091187	0.38743	T	-0.382176	0.03019	T	-0.507311	0.21592	T	0.0232164041334594	0.01049	T	0.333267	0.07048	T	0.02059828	0.00624	0.036756348	0.03188	0.02059828	0.00623	0.036756348	0.03187	-4.53	0.31279	T	.	.	0.072	0.06803	B	.;.;.;.;.	.;.;.;.;.	-0.513280	0.01825	0.144	0.87551555166088302	0.17309	0.01789	0.05595	N	AEFDBCI	0.034600	0.04314	N	-1.2576931541822	0.04199	0.1890668	-1.28047593181022	0.04694	0.2220361	0.679599882872455	0.22463	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.04	-2.69	0.05668	-2.418000	0.01111	-2.581000	0.03584	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2463:0.2989:0.1227:0.3321	0.648	0.00769	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1022.33	47	chr2	241816455	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.833;DP=911;ExcessHet=0;FS=14.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=-0.039;SOR=0.781	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr2	241816476	241816476	A	G	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.A922G:p.S308G,NEU4:NM_001167600:exon4:c.A883G:p.S295G,NEU4:NM_001167601:exon4:c.A883G:p.S295G,NEU4:NM_080741:exon4:c.A919G:p.S307G,NEU4:NM_001167602:exon5:c.A883G:p.S295G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00320228711533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.919e-06	1.026e-05	5.46e-06	1.241e-05	0.0001	4.98e-06	3.84e-06	5.424e-05	4.062e-05	2.991e-05	0	0	0	0	0	1.8e-06	1.661e-05	0.0001	4.598e-05	5.25e-05	2.57e-05	6.717e-05	0.0014	2.109e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.63	0.05152	T	0.43	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.968589	0.07763	N	1.020000	1	0.08975	N	-0.805	0.01590	N	-1.0	0.76300	T	-0.04	0.07590	N	0.045	0.01740	-0.9987	0.30283	T	0.163	0.49947	T	10	0.030975044	0.01228	T	0.003202	0.07026	T	0.070	0.20419	0.182	0.09004	0.184867976434	0.18130	0.353710961905931	0.35285	0.0447857060935	0.04840	0.467198312283	0.34297	T	0.110011	0.42436	T	-0.218504	0.18198	T	-0.551643	0.17167	T	0.0508447838080135	0.05647	T	0.177382	0.01733	T	0.04740202	0.08094	0.028635297	0.01119	0.04740202	0.08094	0.028635297	0.01119	-2.968	0.10278	T	.	.	0.050	0.00148	B	.;.;.;.;.	.;.;.;.;.	-0.694503	0.01334	0.074	0.50123290972112178	0.04329	0.00813	0.03295	N	AEFDBCI	0.019585	0.00693	N	-1.55926295508529	0.01481	0.06465425	-1.60190587033389	0.01644	0.07460582	0.620727207979428	0.21882	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.07	-2.49	0.06034	-0.914000	0.04146	-0.301000	0.10115	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5032:0.1941:0.3027:0.0	3.987	0.09010	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1035.33	47	chr2	241816476	.	A	G	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.09;DP=912;ExcessHet=0;FS=15.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=1.34;SOR=0.709	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr2	241872550	241872550	C	T	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.C995T:p.S332L	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0006	0.00239617	0.0029	0.0010	0.0226	0.0031	0	0.0001	0.0052	0.0015	0.0023609	365	154602	rs150144782	0.0009	0.0010	0.0010	0.0009	0.0179	0.0009	0.0009	0.0168	0.0163	0.0006	0.0179	0	0.0129	1.984e-05	0.0005	3.328e-05	0.0011	0.0010	0.0014	0.0014	0.0015	0.0013	0.0084	0.0012	0.0012	0.0072	0.0067	0.0008	0	0.0084	0	0.0066	0	0	0.0001	0.0019	0.0014	0.475	0.08359	T	0.077	0.42436	T	0.056	0.22806	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.95	0.22474	T	-0.61	0.18042	N	0.083	0.05929	-0.9980	0.30479	T	0.015	0.06138	T	9	0.003286928	0.00056	T	.	.	.	0.034	0.08419	.	.	0.194818534648	0.19098	0.27407093509427777	0.27320	0.153113182787	0.17276	0.234416991472	0.02310	T	0.005537	0.04992	T	-0.645387	0.00077	T	-0.683574	0.06768	T	0.00184077770157933	0.00019	T	0.456654	0.13107	T	0.025799619	0.01559	0.038967036	0.03882	0.025799619	0.01558	0.038967036	0.03881	-2.025	0.03277	T	.	.	0.112	0.22024	B	.	.	-0.061873	0.03875	0.843	0.76107293355401406	0.11336	0.01343	0.04616	N	AEFGBHCI	0.019495	0.00682	N	-1.6158189996282	0.01187	0.05162187	-1.7278871718766	0.01019	0.04570946	0.999974649317057	0.50053	0.533608	0.22052	0	0.61073	0.52368	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.84	-5.69	0.02233	-1.302000	0.02854	-3.929000	0.02446	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1764:0.2554:0.5682	6.731	0.22573	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2296.33	35	chr2	241872550	.	C	T	2296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.89;DP=932;ExcessHet=0;FS=6.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-2.052;SOR=1.135	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr2	241872723	241872723	A	-	exonic	RTP5	.	frameshift deletion	RTP5:NM_173821:exon2:c.1168delA:p.K390Rfs*93	.	365	1152	5	0	0	5	0.00216544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00139776	0.0013	0	0	0	0	0.0005	0.0012	0.0088	0.0011061	171	154602	rs530164671	0.0007	0.0007	0.0004	0.0009	0.0081	0.0006	0.0006	0.0076	0.0074	3.04e-05	2.342e-05	0.0042	0	0	0.0007	0.0001	0.0010	0.0081	0.0004	0.0004	0.0003	0.0005	0.0072	0.0003	0.0003	0.0054	0.0047	0	0	0	0.0037	0	9.418e-05	0	0.0001	0	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05263	5558.77	35	chr2	241872722	.	GA	G	5558.77	.	AC=2;AF=0.053;AN=38;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.69;SOR=0.761	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	1	0	0
chr3	1321796	1321796	G	A	exonic	CNTN6	.	nonsynonymous SNV	CNTN6:NM_001349357:exon6:c.G596A:p.R199Q,CNTN6:NM_001289081:exon7:c.G692A:p.R231Q,CNTN6:NM_001349356:exon7:c.G800A:p.R267Q,CNTN6:NM_001289080:exon8:c.G908A:p.R303Q,CNTN6:NM_014461:exon8:c.G908A:p.R303Q,CNTN6:NM_001349352:exon9:c.G908A:p.R303Q,CNTN6:NM_001349353:exon9:c.G908A:p.R303Q,CNTN6:NM_001349354:exon9:c.G908A:p.R303Q,CNTN6:NM_001349355:exon9:c.G908A:p.R303Q,CNTN6:NM_001349350:exon10:c.G908A:p.R303Q,CNTN6:NM_001349351:exon10:c.G908A:p.R303Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	697838	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.396	0.0865327259045	0.0070	0.00259585	0.0056	0.0014	0.0018	0	0.0061	0.0087	0.0088	0.0012	0.0059831	925	154602	rs41293401	0.0085	0.0085	0.0087	0.0083	0.0102	0.0084	0.0084	0.0101	0.0100	0.0010	0.0020	0.0026	0	0.0072	0.0007	0.0102	0.0063	0.0014	0.0062	0.0062	0.0065	0.0059	0.0104	0.0059	0.0058	0.0098	0.0095	0.0015	0.0121	0.0045	0.0017	0	0.0070	0.0034	0.0104	0.0081	0	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.985	0.76457	D	0.000160	0.49130	D	0.000000	0.999975	0.53665	D	0.27	0.09956	N	-0.22	0.66474	T	-2.16	0.48850	N	0.84	0.83781	-0.5088	0.68330	T	0.196	0.54985	T	10	0.020736754	0.00483	T	0.086533	0.74755	D	0.396	0.71084	.	.	0.864534791568	0.86321	0.4660911549389278	0.46528	0.0195420639017	0.01909	0.403156906366	0.25509	T	0.216215	0.57831	T	-0.169154	0.25364	T	-0.0027804	0.70156	D	0.0269487268650619	0.01537	T	0.954005	0.82493	D	0.23896591	0.46781	0.2292308	0.47989	0.26914942	0.49987	0.2292308	0.47988	-7.739	0.59278	D	.	.	0.170	0.48355	B	.;.	.;.	4.894080	0.80374	27.3	0.99957884476905234	0.99986	0.98961	0.89215	D	AEFI	0.842250	0.75937	D	0.597831235242187	0.73040	5.901428	0.703204526677779	0.82624	7.812802	0.999986469490647	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	9.128000	0.93719	11.632000	0.93711	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.459	0.90681	976	0.04745	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	702.33	33	chr3	1321796	.	G	A	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.714;DP=700;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.298;SOR=1.247	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr3	3026248	3026248	G	A	exonic	CNTN4	.	nonsynonymous SNV	CNTN4:NM_001206956:exon6:c.G649A:p.D217N,CNTN4:NM_175613:exon6:c.G649A:p.D217N,CNTN4:NM_001206955:exon14:c.G1633A:p.D545N,CNTN4:NM_001350095:exon15:c.G1633A:p.D545N,CNTN4:NM_175607:exon15:c.G1633A:p.D545N	.	425	1092	5	0	0	5	0.00228415	.	.	.	3304740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0103259651431	7.7e-05	.	0.0001	0	0	0	0	0.0001	0.0011	0.0003	8.41e-05	13	154602	rs368264759	4.722e-05	4.72e-05	4.494e-05	4.953e-05	0.0009	3.795e-05	3.477e-05	0.0003	0.0002	2.991e-05	0	0	0	5.617e-05	0.0009	3.599e-05	0.0002	0.0001	3.286e-05	3.283e-05	5.14e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.042	0.41637	D	0.08	0.41913	T	0.425	0.35474	B	0.243	0.38752	B	0.000025	0.55875	D	0.118791	0.999906	0.50806	D	1.59	0.40313	L	2.89	0.10196	T	-1.38	0.36586	N	0.133	0.15469	-1.1229	0.02156	T	0.045	0.19152	T	10	0.18938318	0.34535	T	0.010326	0.26741	T	0.205	0.49236	.	.	0.568696542634	0.56534	0.4325700884373079	0.43174	0.132844441926	0.14965	0.508112490177	0.39958	T	0.092648	0.39047	T	-0.481643	0.00723	T	-0.655324	0.08585	T	0.0693639666146607	0.08561	T	0.843416	0.52040	T	0.160166	0.35940	0.17749494	0.40355	0.160166	0.35939	0.17749494	0.40354	-5.431	0.41217	T	.	.	0.226	0.45978	B	.;.;.;.	.;.;.;.	4.549083	0.71574	25.7	0.99840422943859841	0.92057	0.93246	0.57707	D	AEFBI	0.715292	0.66750	D	0.162132739390374	0.49387	3.139743	0.24545186515685	0.52389	3.414218	0.985140240707029	0.30836	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	5.706000	0.68016	11.706000	0.94575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	18.279	0.90032	963	0.08280	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1635.33	33	chr3	3026248	.	G	A	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=766;ExcessHet=0;FS=4.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.196;SOR=1.147	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	18	0	1	0
chr3	3147456	3147456	-	TAAACT	exonic	TRNT1	.	nonframeshift insertion	TRNT1:NM_001302946:exon7:c.749_750insTAAACT:p.P250_A251insKL,TRNT1:NM_001367321:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_001367322:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_001367323:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_182916:exon7:c.809_810insTAAACT:p.P270_A271insKL	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	462	1059	1	0	0	1	0.000471921	.	.	.	452316	not_provided|not_specified|Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome|Retinal_dystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0014	0	8.657e-05	0.0147	0	3.016e-05	0	0.0025	0.0003074	8	26028	rs527331900	0.0005	0.0005	0.0005	0.0006	0.0118	0.0005	0.0005	0.0109	0.0106	0	2.238e-05	0	0.0118	0	0	7.197e-06	0.0011	0.0027	0.0007	0.0007	0.0006	0.0007	0.0160	0.0006	0.0005	0.0132	0.0122	0	0	6.539e-05	0	0.0160	0	0	0	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	705.29	33	chr3	3147456	.	C	CTAAACT	705.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.391;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	18	0	1	0
chr3	3147503	3147503	G	C	exonic	TRNT1	.	nonsynonymous SNV	TRNT1:NM_001302946:exon7:c.G796C:p.D266H,TRNT1:NM_001367321:exon7:c.G856C:p.D286H,TRNT1:NM_001367322:exon7:c.G856C:p.D286H,TRNT1:NM_001367323:exon7:c.G856C:p.D286H,TRNT1:NM_182916:exon7:c.G856C:p.D286H	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.002564598782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.176	0.29843	T	0.0	0.02946	B	0.001	0.06944	B	0.372219	0.13510	N	0.746656	0.952106	0.29495	N	-0.115	0.04602	N	0.89	0.45636	T	-0.95	0.25332	N	0.083	0.12055	-1.0725	0.08873	T	0.049	0.21065	T	10	0.11585188	0.21838	T	0.002565	0.05150	T	0.047	0.12962	0.426	0.47185	0.416202232284	0.41236	0.5235179385488519	0.52275	0.00462238195674	0.00407	0.325620770454	0.14272	T	0.020764	0.16287	T	-0.258323	0.13097	T	-0.608839	0.12080	T	0.43750074505806	0.30337	T	0.207379	0.02472	T	0.19009238	0.40579	0.12032629	0.29040	0.19009238	0.40579	0.12032629	0.29039	-4.052	0.34286	T	0.14099720117186798	0.15825	0.081	0.12323	B	.;.	.;.	3.232695	0.44089	21.9	0.97124890625191174	0.32473	0.76227	0.37369	D	AEFBCI	0.117737	0.23051	N	-0.241673623504246	0.31436	1.762732	0.0174100041711367	0.40524	2.419799	0.899277228827159	0.26047	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	4.72	0.59248	2.034000	0.40767	7.238000	0.57892	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3262:0.6738:0.0	13.312	0.59823	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1082.33	33	chr3	3147503	.	G	C	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=737;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.597;SOR=0.917	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	18	0	1	0
chr3	3179687	3179687	T	C	exonic	CRBN	.	startloss	CRBN:NM_001173482:exon1:c.A1G:p.M1?,CRBN:NM_016302:exon1:c.A1G:p.M1?	Mental retardation, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.458	0.39147	P	0.678	0.59497	P	0.004774	0.33407	U	0.267510	0.999957	0.52396	D	.	.	.	.	.	.	-0.47	0.15178	N	0.965	0.97535	-0.2169	0.77234	T	0.392	0.74554	T	8	0.98231184	0.98303	D	0.845883	0.98810	D	0.418	0.72780	0.997	0.99969	0.497936662304	0.49429	0.5528459867060492	0.55210	.	.	.	.	.	0.023031	0.17650	T	0.564779	0.96331	D	0.573489	0.96271	D	0.998559892177582	0.94478	D	0.9	0.65058	D	0.92893285	0.94130	0.91543365	0.96075	0.92893285	0.94131	0.91543365	0.96076	-7.472	0.57413	T	.	.	.	.	.	.;.;.	.;.;.	3.409872	0.47294	22.4	0.98659034718467375	0.44303	0.17699	0.19950	N	ALL	0.036422	0.04851	N	0.220593970302776	0.52199	3.395504	0.212211933819376	0.50522	3.24356	1.0	0.98316	0.034631	0.00232	3	0.374146	0.05931	1	0.289072	0.05449	1	0.003489	0.00041	3	.	.	3.31	3.31	0.37025	4.185000	0.58128	4.548000	0.43792	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.287	0.48460	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	57	chr3	3179687	.	T	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=796;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.068;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr3	4313174	4313174	A	G	exonic	SETMAR	.	nonsynonymous SNV	SETMAR:NM_001243723:exon2:c.A433G:p.K145E,SETMAR:NM_001276325:exon2:c.A433G:p.K145E,SETMAR:NM_006515:exon2:c.A433G:p.K145E	.	435	1083	3	1	0	5	0.00230309	.	.	.	2203111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.114256043569	.	.	4.956e-05	0	0	0	0	3.002e-05	0	0.0002	3.88e-05	6	154602	rs779189977	1.71e-05	1.71e-05	1.225e-05	2.2e-05	0.0014	1.174e-05	9.92e-06	0.0007	0.0005	0	0	0	0	0	0.0014	5.396e-06	3.312e-05	0.0001	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0002	0.007	0.68238	D	0.019	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.205	0.62170	M	-2.63	0.90083	D	-1.02	0.36980	N	0.407	0.44761	-0.3046	0.74856	T	0.619	0.86547	D	9	0.22900897	0.39819	T	0.114256	0.79304	D	0.346	0.66769	.	.	0.791053330979	0.78911	0.38218366357054334	0.38133	0.0369096761219	0.03911	0.308303982019	0.11651	T	0.038158	0.24739	T	-0.121799	0.32831	T	-0.153053	0.58973	T	0.116224763155459	0.14056	T	0.889911	0.83579	D	0.33849362	0.56159	0.2313799	0.48267	0.33849362	0.56159	0.2313799	0.48266	-10.224	0.75241	D	.	.	0.201	0.55876	B	.;.;.	.;.;.	2.956882	0.39368	20.9	0.99490197094641075	0.67403	0.69500	0.34212	D	AEFBI	0.145130	0.26827	N	-0.291865420866623	0.29461	1.633981	-0.254242135982768	0.29626	1.661276	0.784309030989033	0.23901	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.18	1.32	0.20897	0.112000	0.15312	0.329000	0.17264	0.756000	0.94297	0.779000	0.29461	0.743000	0.26496	0.693000	0.33928	0.3368:0.6631:0.0:0.0	16.098	0.80948	937	0.14592	SET domain|SET domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1567.33	34	chr3	4313174	.	A	G	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.276;DP=800;ExcessHet=0;FS=1.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.744;SOR=0.89	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr3	4676696	4676696	G	A	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_001168272:exon23:c.G2817A:p.M939I,ITPR1:NM_002222:exon23:c.G2790A:p.M930I,ITPR1:NM_001099952:exon24:c.G2835A:p.M945I,ITPR1:NM_001378452:exon24:c.G2862A:p.M954I	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	290716	not_specified|Autosomal_dominant_cerebellar_ataxia|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.300	0.0205052174552	.	0.000199681	0.0006	0	0	0.0002	0	0	0.0011	0.0042	0.0004657	72	154602	rs543514234	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0030	0	0	0	0.0029	0	0	3.598e-06	0.0002	0.0034	0.0001	0.0001	6.426e-05	0.0002	0.0031	9.147e-05	7.703e-05	0.0019	0.0016	0	0	0	0	0.0012	0	0	0	0	0.0031	0.273	0.15930	T	0.206	0.27056	T	0.005	0.12996	B	0.013	0.16460	B	0.000004	0.62929	D	0.140285	0.995397	0.81001	D	1.32	0.33002	L	-2.68	0.90391	D	-0.89	0.24244	N	0.254	0.28732	-0.2736	0.75714	T	0.501	0.81173	D	10	0.011951476	0.00259	T	0.020505	0.43119	T	0.300	0.62068	0.634	0.77032	0.528307593906	0.52478	0.6798120738536172	0.67920	0.794935810401	0.66003	0.44218108058	0.30876	T	0.456825	0.79544	T	-0.284816	0.10164	T	-0.183051	0.56240	T	0.019786870557817	0.00680	T	0.882612	0.60317	D	0.18580265	0.39959	0.20436007	0.44557	0.22144279	0.44721	0.24248827	0.49669	-4.305	0.29078	T	0.07535422261314331	0.03347	0.151	0.34797	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.552218	0.49937	22.9	0.97220001348232932	0.32896	0.77841	0.38322	D	AEFBHCI	0.172964	0.30002	N	-0.368833192740808	0.26585	1.45207	-0.181241264280874	0.32225	1.831373	0.999863638577468	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	4.1	0.47196	2.116000	0.41553	6.506000	0.55795	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	16.866	0.85897	935	0.14827	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1197.33	34	chr3	4676696	.	G	A	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.112;DP=736;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.499;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	18	0	1	0
chr3	9384669	9384670	TT	-	exonic	THUMPD3	.	frameshift deletion	THUMPD3:NM_001114092:exon10:c.1505_1506del:p.W503Afs*20,THUMPD3:NM_015453:exon10:c.1505_1506del:p.W503Afs*20	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1562.29	87	chr3	9384668	.	CTT	C	1562.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=753;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0.471;SOR=0.522	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr3	9725976	9725976	C	T	exonic	CPNE9	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	34	chr3	9725976	.	C	T	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=698;ExcessHet=0;FS=7.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.582;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	18	0	1	0
chr3	9725998	9725998	A	T	exonic	CPNE9	.	unknown	UNKNOWN	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.0225607667351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.034	0.54159	D	0.074	0.24142	B	0.151	0.34210	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.41	0.91792	M	1.69	0.27032	T	-3.16	0.65056	D	0.952	0.97317	-0.9875	0.33224	T	0.102	0.37568	T	10	0.8322639	0.82387	D	0.022561	0.45460	T	0.477	0.76881	0.752	0.88237	0.396645960531	0.39282	0.8706116154324051	0.87027	1.80444484246	0.91712	0.84194290638	0.88390	D	0.052428	0.44448	T	0.266161	0.80094	D	0.144546	0.79838	D	0.976014316082001	0.71190	D	0.960404	0.85096	D	0.62601197	0.74085	0.54513735	0.73707	0.62601197	0.74086	0.54513735	0.73708	-10.704	0.78767	D	.	.	0.977	0.90519	P	.;.;.	.;.;.	4.232876	0.64109	24.7	0.98283246892435983	0.39879	0.99334	0.94646	D	AEFBI	0.904538	0.85496	D	0.253533667157282	0.53813	3.548789	0.371309701345154	0.59802	4.161251	0.999999999966239	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.31	5.31	0.75063	7.089000	0.76571	8.027000	0.76256	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.932	0.70570	724	0.55085	Copine|von Willebrand factor, type A|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2013.33	160	chr3	9725998	.	A	T	2013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.314;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	18	0	1	0
chr3	9734490	9734490	A	G	exonic	BRPF1	.	nonsynonymous SNV	BRPF1:NM_001003694:exon2:c.A350G:p.D117G,BRPF1:NM_001319049:exon2:c.A350G:p.D117G,BRPF1:NM_001319050:exon2:c.A350G:p.D117G,BRPF1:NM_004634:exon2:c.A350G:p.D117G	Intellectual developmental disorder with dysmorphic facies and ptosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0180332992492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.51248	T	0.152	0.39040	T	0.043	0.29470	B	0.088	0.38015	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.95	0.43279	T	-3.09	0.63438	D	0.671	0.68950	-0.9999	0.29945	T	0.126	0.43174	T	10	0.4820043	0.60487	T	0.018033	0.39953	T	0.206	0.49396	0.697	0.83406	0.699080592734	0.69648	0.621515318912508	0.62084	2.20945217804	0.95737	0.759830474854	0.75903	T	0.176781	0.52685	T	0.141591	0.68476	D	-0.0343904	0.68077	D	0.916390156289522	0.57379	D	0.952505	0.81867	D	0.46892256	0.65224	0.47100475	0.69327	0.46892256	0.65224	0.47100475	0.69327	-10.975	0.79882	D	0.2865502215123609	0.38259	0.278	0.53495	B	.;.;.;.	.;.;.;.	4.420235	0.68456	25.2	0.99515822723939029	0.68919	0.95602	0.65379	D	AEFBCI	0.843148	0.76020	D	0.138140142386745	0.48250	3.03976	0.310063705196889	0.56130	3.776018	0.999999999997752	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	6.976000	0.75917	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.673	0.77047	743	0.52768	.;.;.;Enhancer of polycomb-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2212.33	35	chr3	9734490	.	A	G	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.008;DP=850;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-2.104;SOR=0.792	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1141	18	0	1	0
chr3	9818851	9818851	G	A	exonic	TTLL3	.	nonsynonymous SNV	TTLL3:NM_001025930:exon6:c.G889A:p.V297I,TTLL3:NM_001366051:exon6:c.G460A:p.V154I	.	421	1099	2	0	0	2	0.000909091	.	.	.	3935849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0310225235443	0.0002	0.000199681	3.312e-05	0	0	0	0	5.993e-05	0	0	5.17e-05	8	154602	rs374967773	4.583e-05	4.583e-05	5.581e-05	3.575e-05	0.0002	3.661e-05	3.347e-05	4.351e-05	3.944e-05	2.987e-05	0	0	0	0	0.0002	5.486e-05	4.967e-05	1.159e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0001	2.108e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.07545	T	0.671	0.11443	T	.	.	.	.	.	.	0.067317	0.21750	U	0.359453	1	0.81001	D	.	.	.	1.16	0.38073	T	0.04	0.07155	N	0.153	0.15749	-1.0473	0.15159	T	0.034	0.14464	T	9	0.03063941	0.01191	T	0.031023	0.53207	D	0.050	0.13987	.	.	0.149567049428	0.14543	0.11379244015927799	0.11307	0.0964755797854	0.10890	0.497183531523	0.38436	T	.	.	.	-0.357853	0.04253	T	-0.554164	0.16929	T	0.144250566096565	0.16636	T	0.806819	0.46699	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.24901	B	.;.;.;.	.;.;.;.	3.312661	0.45526	22.1	0.8720493464940009	0.17062	0.75754	0.37107	D	AEFDGBCI	0.289024	0.40077	N	-0.169515961324761	0.34408	1.963568	0.0149970021947869	0.40409	2.411214	0.998624921623848	0.37330	0.706548	0.73137	0	0.643519	0.57511	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	2.815000	0.47717	6.610000	0.56085	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0862:0.2148:0.6991:0.0	8.056	0.29765	481	0.77356	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1369.33	37	chr3	9818851	.	G	A	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=761;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.048;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	18	0	1	0
chr3	9818911	9818911	G	A	exonic	TTLL3	.	nonsynonymous SNV	TTLL3:NM_001025930:exon6:c.G949A:p.E317K,TTLL3:NM_001366051:exon6:c.G520A:p.E174K	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00279553	0.0011	0	0	0.0134	0	2.997e-05	0	0.0007	0.0009961	154	154602	rs3806669	0.0004	0.0004	0.0004	0.0004	0.0101	0.0003	0.0003	0.0093	0.0089	0	0	0	0.0101	0	0	1.978e-05	0.0006	0.0007	0.0004	0.0004	0.0003	0.0006	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	0	0	0.0110	0	0	1.47e-05	0	0.0015	0.131	0.91255	T	0.293	0.47336	T	.	.	.	.	.	.	0.726335	0.06343	U	1.223630	0.999998	0.18878	N	.	.	.	3.6	0.38556	T	-1.79	0.46146	N	0.173	0.18512	-1.0446	0.15942	T	0.042	0.18076	T	8	0.0046506226	0.00097	T	.	.	.	0.081	0.23632	.	.	0.276482976112	0.27267	0.22829360660721013	0.22744	0.107180644816	0.12099	0.349036425352	0.17780	T	.	.	.	-0.425122	0.01587	T	-0.372403	0.36609	T	0.0147678354706328	0.00309	T	0.605339	0.23564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.12891	B	.;.;.	.;.;.	1.884712	0.23939	16.21	0.81104994901555372	0.13522	0.08569	0.14480	N	AEFDBCI	0.069355	0.13724	N	-0.42565107285734	0.24573	1.327771	-0.548776560924038	0.20839	1.124565	0.748089451487472	0.23316	0.706548	0.73137	0	0.643519	0.57511	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	4.71	1.87	0.24559	1.865000	0.39117	1.954000	0.29902	0.618000	0.50648	0.024000	0.20007	0.029000	0.21193	0.025000	0.12405	0.3208:0.0:0.6792:0.0	6.221	0.19895	481	0.77356	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1478.33	37	chr3	9818911	.	G	A	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.158;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.491;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	18	0	1	0
chr3	9839171	9839171	A	T	exonic	RPUSD3	.	nonsynonymous SNV	RPUSD3:NM_001142547:exon7:c.T680A:p.V227E,RPUSD3:NM_001351738:exon8:c.T753A:p.S251R,RPUSD3:NM_173659:exon8:c.T725A:p.V242E	.	0	225	1	0	0	1	0.00221729	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	1.679e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs763198758	1.307e-05	1.3e-05	1.092e-05	1.525e-05	0.0001	8.36e-06	6.74e-06	6.262e-05	4.769e-05	0	0	0	0	0	0	5.428e-06	5.003e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.35918	T	0.043	0.49942	D	0.928	0.54400	P	0.494	0.54186	P	0.220816	0.16143	N	0.631198	0.999998	0.58761	D	2.015	0.55033	M	1.58	0.29085	T	-1.03	0.27052	N	0.509	0.54147	-0.9550	0.40096	T	0.080	0.31795	T	10	0.4426375	0.58198	T	0.009816	0.25608	T	0.205	0.49236	0.677	0.81496	0.218845423259	0.21516	0.7181777489663255	0.71760	0.670111394048	0.59393	0.40348470211	0.25554	T	0.008244	0.07584	T	-0.275184	0.11185	T	-0.39639	0.33805	T	0.236737087368965	0.22269	T	0.69603	0.30863	T	0.0974127	0.22960	0.11078784	0.26717	0.0974127	0.22960	0.11078784	0.26716	-6.596	0.52455	T	.	.	0.251	0.48551	B	.;.	.;.	2.033975	0.25852	16.91	0.90996164865448936	0.20246	0.23530	0.22106	N	AEFGBCI	0.236482	0.35892	N	-0.810637087098628	0.13038	0.63954	-1.05684210802851	0.08564	0.4217122	0.99706012158619	0.35242	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.72	-5.66	0.02255	-0.034000	0.12176	0.141000	0.15172	-0.065000	0.16512	0.068000	0.22015	0.000000	0.08366	0.090000	0.17789	0.3053:0.1226:0.5721:0.0	9.901	0.40514	477	0.77662	.;Pseudouridine synthase, RsuA/RluB/C/D/E/F|Pseudouridine synthase, RsuA/RluB/C/D/E/F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	730.33	39	chr3	9839171	.	A	T	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=687;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.15;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr3	9867240	9867241	CC	-	exonic	CIDEC	.	frameshift deletion	CIDEC:NM_001321144:exon5:c.388_389del:p.G130Hfs*46,CIDEC:NM_001199552:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_001199623:exon6:c.649_650del:p.G217Hfs*46,CIDEC:NM_001321143:exon6:c.388_389del:p.G130Hfs*46,CIDEC:NM_001378491:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_022094:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_001199551:exon7:c.640_641del:p.G214Hfs*46,CIDEC:NM_001321142:exon7:c.610_611del:p.G204Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0002	6.008e-05	0	0.0004	9.7e-05	15	154602	rs777480698	9.44e-05	9.645e-05	8.712e-05	0.0001	0.0004	8.135e-05	7.651e-05	0.0003	0.0002	2.987e-05	0	0	7.557e-05	3.747e-05	0	8.633e-05	8.279e-05	0.0004	5.25e-05	5.249e-05	5.138e-05	5.367e-05	7.349e-05	2.554e-05	1.828e-05	2.846e-05	1.858e-05	0	0	6.536e-05	0	0	9.406e-05	0	7.349e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1425.29	40	chr3	9867239	.	GCC	G	1425.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.274;SOR=0.754	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1305	18	0	1	0
chr3	9893079	9893079	C	G	exonic	JAGN1	.	nonsynonymous SNV	JAGN1:NM_001363890:exon2:c.C92G:p.S31C,JAGN1:NM_032492:exon2:c.C254G:p.S85C	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0222805343604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.112	0.37037	T	0.975	0.58077	D	0.815	0.58847	P	0.000567	0.43250	D	0.239229	0.999811	0.49394	D	1.85	0.49092	L	.	.	.	-2.63	0.56466	D	0.312	0.35194	-0.1637	0.78580	T	0.425	0.76883	T	9	0.7841961	0.78107	D	0.022281	0.45152	T	0.231	0.53208	0.628	0.76366	0.683740502345	0.68104	0.6627413893646246	0.66211	0.212106756448	0.23704	0.526173651218	0.42496	T	0.678045	0.90516	D	-8.60054e-05	0.51642	T	-0.2379	0.51002	T	0.779613614082336	0.45026	D	0.80002	0.44558	T	0.2279283	0.45502	0.17835206	0.40498	0.2279283	0.45503	0.17835206	0.40498	-4.712	0.33549	T	0.4634591731430876	0.54522	0.089	0.12037	B	.;.	.;.	3.806161	0.54877	23.5	0.98816351311557915	0.46704	0.94644	0.61841	D	AEFDBHCI	0.796274	0.72345	D	0.675974272007514	0.78056	6.795716	0.657737313030869	0.79189	7.029903	0.99999999998018	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	5.73	0.89730	4.046000	0.57088	7.664000	0.64404	0.544000	0.25403	0.976000	0.34826	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.488	0.95031	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	181.33	40	chr3	9893079	.	C	G	181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.141;DP=866;ExcessHet=0;FS=64.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.78;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	18	0	1	0
chr3	9902952	9902952	C	T	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_001193380:exon1:c.C20T:p.A7V,IL17RE:NM_153480:exon1:c.C20T:p.A7V,IL17RE:NM_153483:exon2:c.C140T:p.A47V	.	372	1109	40	1	0	42	0.0185841	.	.	.	698311	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0068	0.00279553	0.0074	0.0017	0.0035	0	0.0015	0.0104	0.0055	0.0082	0.0073673	1139	154602	rs12492494	0.0087	0.0087	0.0087	0.0087	0.0224	0.0086	0.0085	0.0192	0.0180	0.0014	0.0048	0.0127	5.038e-05	0.0011	0.0224	0.0096	0.0089	0.0085	0.0061	0.0061	0.0063	0.0058	0.0091	0.0058	0.0056	0.0085	0.0082	0.0018	0.0055	0.0082	0.0121	0.0002	0.0003	0.0170	0.0091	0.0066	0.0087	0.006	0.61437	D	0.0	0.92824	D	0.025	0.21471	B	0.031	0.27651	B	0.001211	0.39820	N	0.111469	1	0.08975	N	2.455	0.71248	M	1.29	0.36691	T	-0.79	0.50337	N	0.247	0.27910	-1.0023	0.29255	T	0.058	0.24242	T	10	0.004919827	0.00105	T	.	.	.	0.102	0.29158	.	.	0.104622674875	0.10061	0.6083380226000853	0.60765	.	.	0.304964482784	0.11146	T	0.018267	0.14759	T	-0.343868	0.05125	T	-0.254395	0.49382	T	0.0340284239846373	0.02643	T	0.685131	0.29365	T	0.051265508	0.09390	0.09706823	0.23088	0.051265508	0.09390	0.09706823	0.23088	-4.611	0.32310	T	.	.	0.223	0.60794	B	.;.;.;.	.;.;.;.	1.993303	0.25328	16.72	0.96743365609625154	0.30932	0.07162	0.13187	N	AEFDBHCI	0.079960	0.16159	N	-0.943008520452756	0.09851	0.4680409	-0.972191591647751	0.10413	0.5242698	0.999999998785102	0.74766	0.241074	0.04172	3	0.547309	0.14657	0	0.503968	0.08637	0	0.447301	0.06993	0	.	.	5.17	2.27	0.27501	0.785000	0.26491	1.388000	0.26092	-0.952000	0.02027	0.003000	0.16062	0.001000	0.17328	0.039000	0.14166	0.1624:0.5918:0.1572:0.0886	4.101	0.09485	680	0.59965	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.019022	0.008772	0.000000	0.008621	0.024390	0.026515	0.02632	1687.33	37	chr3	9902952	.	C	T	1687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=779;ExcessHet=0;FS=4.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.248;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	9906996	9906996	C	T	exonic	IL17RE	.	nonsynonymous SNV	IL17RE:NM_153481:exon4:c.C214T:p.R72W,IL17RE:NM_001193380:exon6:c.C562T:p.R188W,IL17RE:NM_153480:exon6:c.C562T:p.R188W,IL17RE:NM_153483:exon7:c.C682T:p.R228W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0248767714717	7.7e-05	.	2.472e-05	0	0	0	0	2.998e-05	0	6.056e-05	1.94e-05	3	154602	rs373337717	1.026e-05	1.026e-05	1.225e-05	8.25e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	4.55e-06	0	4.472e-05	0	0	0	0	1.079e-05	0	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.83e-05	5.24e-06	2.45e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.967	0.80445	D	0.024936	0.26177	N	0.388255	1	0.08975	N	1.935	0.51832	L	2.38	0.15843	T	-4.32	0.92980	D	0.548	0.61002	-1.0529	0.13601	T	0.103	0.37869	T	10	0.30455527	0.47980	T	0.024877	0.47865	T	0.099	0.28413	.	.	0.583146274015	0.57986	0.5142960138391185	0.51352	.	.	0.269913524389	0.06130	T	0.03741	0.24464	T	-0.187141	0.22680	T	-0.330744	0.41386	T	0.805438876152039	0.46727	D	0.905309	0.67324	D	0.2715812	0.50229	0.28655788	0.54665	0.2715812	0.50229	0.28655788	0.54664	-6.718	0.51946	T	.	.	0.183	0.51341	B	.;.;.;.	.;.;.;.	4.362547	0.67097	25.1	0.99910467875202769	0.98022	0.51899	0.29004	D	AEFBI	0.220939	0.34562	N	0.339580927587869	0.58191	3.990062	0.245039884538833	0.52368	3.412058	0.997823896876825	0.36074	0.615465	0.37627	0	0.573078	0.20572	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.7	3.71	0.41733	1.422000	0.34434	2.313000	0.32088	0.599000	0.40250	0.796000	0.29669	0.905000	0.28034	0.933000	0.47100	0.2903:0.7097:0.0:0.0	13.734	0.62289	671	0.60868	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal;.;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3938.81	37	chr3	9906996	.	C	T	3938.81	.	AC=2;AF=0.053;AN=38;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.67;SOR=1.65	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	1	0	0
chr3	9943452	9943452	C	T	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon8:c.C901T:p.R301C,CRELD1:NM_001374318:exon9:c.C985T:p.R329C,CRELD1:NM_001374319:exon9:c.C901T:p.R301C,CRELD1:NM_015513:exon9:c.C985T:p.R329C,CRELD1:NM_001031717:exon10:c.C985T:p.R329C,CRELD1:NM_001077415:exon10:c.C985T:p.R329C,CRELD1:NM_001374316:exon10:c.C985T:p.R329C,CRELD1:NM_001374317:exon10:c.C985T:p.R329C	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	18466	not_provided|Atrioventricular_septal_defect,_susceptibility_to,_2	MedGen:C3661900|MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.715	0.303919901057	0.0013	0.000798722	0.0006	0.0005	0.0003	0.0001	0.0005	0.0010	0	6.056e-05	0.0006662	103	154602	rs28942091	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0009	0.0009	0.0003	0.0005	0	2.519e-05	0.0003	0.0010	0.0009	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	9.429e-05	0	0.0013	0.0005	0.0002	0.178	0.23271	T	0.09	0.46862	T	1.0	0.90584	D	0.973	0.86255	D	0.008732	0.30696	N	0.374939	0.999988	0.54805	D	3.155	0.88459	M	-3.06	0.92457	D	-0.99	0.27876	N	0.773	0.77039	0.981	0.96874	D	0.888	0.96285	D	9	0.30895013	0.48386	T	0.30392	0.90972	D	0.715	0.89877	.	.	0.984984454091	0.98482	0.8250822619629183	0.82466	0.227251636705	0.25277	0.264449745417	0.05432	T	0.382466	0.74454	T	0.0981197	0.64089	D	0.317725	0.88996	D	0.0682023692009495	0.08397	T	0.816518	0.47523	T	0.18486987	0.39822	0.13095032	0.31454	0.21638325	0.44096	0.12236571	0.29516	-10.066	0.74306	D	0.17994534461799375	0.23134	0.421	0.60736	A	.;.;.;.	.;.;.;.	4.281242	0.65215	24.8	0.9993225417624213	0.99439	0.93199	0.57584	D	AEFDBCI	0.491304	0.52842	N	0.566172902454911	0.71074	5.595708	0.451085041580149	0.64785	4.742043	0.999999999999941	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	3.611000	0.53881	3.331000	0.37627	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.614000	0.31742	0.0:1.0:0.0:0.0	14.946	0.70685	628	0.65206	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.010101	0.002725	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2141.33	34	chr3	9943452	.	C	T	2141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=808;ExcessHet=0;FS=6.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.526;SOR=1.165	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr3	9944565	9944565	A	G	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon9:c.A1165G:p.I389V,CRELD1:NM_001374319:exon10:c.A1165G:p.I389V,CRELD1:NM_015513:exon10:c.A1249G:p.I417V,CRELD1:NM_001077415:exon11:c.A1249G:p.I417V,CRELD1:NM_001374316:exon11:c.A1249G:p.I417V	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	2	1496	24	0	0	24	0.00795756	.	.	.	1275042	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0282874559487	0.0019	0.00179712	0.0027	0.0003	0.0006	0.0001	0.0021	0.0030	0.0039	0.0054	0.0022703	351	154602	rs115361983	0.0023	0.0023	0.0021	0.0024	0.0050	0.0022	0.0022	0.0046	0.0044	0.0004	0.0010	0.0042	5.04e-05	0.0021	0.0043	0.0022	0.0027	0.0050	0.0016	0.0016	0.0016	0.0015	0.0046	0.0014	0.0013	0.0031	0.0026	0.0007	0	0.0010	0.0055	0	0.0008	0	0.0021	0.0014	0.0046	0.027	0.46513	D	0.044	0.49663	D	0.493	0.37004	P	0.155	0.34417	B	.	.	.	.	0.612953	0.81001	D	0.55	0.14455	N	0.17	0.60485	T	-0.09	0.08340	N	0.202	0.24634	-1.0016	0.29459	T	0.106	0.38611	T	8	0.008063853	0.00183	T	0.028287	0.50986	D	0.086	0.25016	.	.	0.498387242485	0.49473	.	.	.	.	.	.	.	0.002587	0.01974	T	-0.426495	0.01557	T	-0.384178	0.35232	T	0.0145331668245755	0.00297	T	0.831917	0.49916	T	0.07659884	0.17335	0.11151908	0.26901	0.08927661	0.20853	0.1245708	0.30023	-3.794	0.20715	T	.	.	0.148	0.32613	B	.;.;.	.;.;.	3.794293	0.54638	23.5	0.99730122280845368	0.82690	0.94990	0.63039	D	AEFDBHCI	0.690326	0.65069	D	0.0620998676865274	0.44702	2.739383	0.225965104077771	0.51292	3.313078	0.99999999880878	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	5.305000	0.65541	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.052	0.64267	628	0.65206	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05263	1222.83	34	chr3	9944565	.	A	G	1222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=698;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.045;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	17	0	2	0
chr3	10104680	10104680	G	T	exonic	FANCD2OS	.	nonsynonymous SNV	FANCD2OS:NM_001164839:exon2:c.C95A:p.P32Q,FANCD2OS:NM_173472:exon2:c.C95A:p.P32Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0117089053865	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.113e-05	1.29e-05	2	154602	rs777528115	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	4.967e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.988	0.77976	D	0.000001	0.62929	D	0.000000	0.998793	0.45457	D	0.975	0.24501	L	.	.	.	-7.53	0.95131	D	0.612	0.62866	-0.5075	0.68378	T	0.270	0.64141	T	9	0.34226167	0.51261	T	0.011709	0.29605	T	0.305	0.62620	0.183	0.09131	0.307332253619	0.30352	0.3729002511919312	0.37204	0.597372302995	0.54935	0.523887217045	0.42174	T	0.109611	0.42363	T	0.148788	0.69155	D	0.0728013	0.75097	D	0.988830268383026	0.79119	D	0.731927	0.34732	T	0.58768547	0.72025	0.5109298	0.71738	0.58768547	0.72026	0.5109298	0.71739	-4.223	0.27083	T	.	.	0.324	0.63033	B	.;.;.	.;.;.	4.044082	0.59893	24.2	0.98907073219071906	0.48290	0.89249	0.49600	D	AEFDGBI	0.470902	0.51667	N	0.320091281866438	0.57179	3.884471	0.340987310280779	0.57968	3.964652	0.999062479807949	0.38343	0.679555	0.55442	0	0.600882	0.49574	2	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.62	4.75	0.59954	4.165000	0.57984	8.450000	0.77217	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1474:0.8526:0.0	14.525	0.67467	332	0.86382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1335.33	39	chr3	10104680	.	G	T	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.058;DP=738;ExcessHet=0;FS=3.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.552;SOR=1.126	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr3	10292862	10292862	C	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon1:c.G52A:p.G18R,GHRL:NM_001134945:exon1:c.G52A:p.G18R,GHRL:NM_001134946:exon1:c.G52A:p.G18R	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0044	0.00259585	0.0019	0	0.0025	0	0	0.0043	0.0041	0.0003	0.0013066	202	154602	rs139684563	0.0068	0.0065	0.0070	0.0065	0.0082	0.0066	0.0066	0.0080	0.0080	0.0013	0.0032	0.0018	0.0007	0.0014	0.0007	0.0082	0.0051	0.0007	0.0041	0.0041	0.0045	0.0037	0.0066	0.0038	0.0037	0.0061	0.0059	0.0016	0	0.0052	0.0017	0	0.0011	0	0.0066	0.0028	0.0008	0.073	0.91255	T	0.111	0.92824	T	0.882	0.55854	P	0.232	0.38314	B	.	.	.	.	1	0.19599	N	.	.	.	1.49	0.58029	T	-0.55	0.96495	N	0.291	0.32921	-1.0257	0.21853	T	0.042	0.17952	T	8	0.004208863	0.00084	T	.	.	.	0.030	0.07022	0.376	0.38994	0.154104182512	0.14974	.	.	.	.	0.377694875002	0.21929	T	.	.	.	-0.547393	0.00302	T	-0.549674	0.17358	T	0.000341636018590249	0.00003	T	0.510149	0.18565	T	.	.	.	.	.	.	.	.	-3.379	0.18248	T	.	.	0.090	0.37746	B	.;.;.;.	.;.;.;.	0.744202	0.11139	7.780	0.85790405032500527	0.16114	0.02450	0.06893	N	ALL	0.049011	0.08423	N	-0.773305719593918	0.14008	0.6943929	-0.971571712933078	0.10427	0.5250817	0.999999999996331	0.74766	0.559995	0.30671	0	0.484254	0.07192	0	0.536957	0.11973	0	0.550183	0.17644	0	.	.	3.3	-1.38	0.08554	0.372000	0.20199	0.185000	0.15676	-0.376000	0.05418	0.006000	0.17386	0.101000	0.22673	0.022000	0.11911	0.1235:0.3858:0.3134:0.1773	2.188	0.03655	716	0.55970	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001225	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1255.33	35	chr3	10292862	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.988;SOR=0.666	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1438	18	0	1	0
chr3	10359892	10359892	C	T	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001330611:exon10:c.G1756A:p.V586M,ATP2B2:NM_001363862:exon10:c.G1756A:p.V586M,ATP2B2:NM_001683:exon10:c.G1756A:p.V586M,ATP2B2:NM_001353564:exon11:c.G1756A:p.V586M,ATP2B2:NM_001001331:exon13:c.G1891A:p.V631M	.	104	1408	10	0	0	10	0.00353857	.	.	.	32840	RECLASSIFIED_-_ATP2B2_POLYMORPHISM|ATP2B2-related_disorder|not_provided|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy	MedGen:C4015888|.|MedGen:C3661900|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0053	0.00798722	0.0088	0.0023	0.0467	0	0.0014	0.0065	0.0022	0.0036	0.0088615	1370	154602	rs61736451	0.0096	0.0096	0.0099	0.0093	0.0457	0.0095	0.0094	0.0440	0.0434	0.0016	0.0457	0.0003	0.0002	0.0013	0.0036	0.0099	0.0081	0.0039	0.0079	0.0079	0.0077	0.0081	0.0280	0.0075	0.0074	0.0258	0.0249	0.0029	0.0011	0.0280	0.0009	0	0.0012	0	0.0088	0.0071	0.0041	0.242	0.20683	T	0.157	0.31730	T	0.852	0.47012	P	0.425	0.45259	B	0.000006	0.62929	D	0.063307	0.999996	0.58761	A	1.645	0.42016	L	-0.82	0.74053	T	-0.86	0.24026	N	0.395	0.45426	-0.4523	0.70325	T	0.243	0.61166	T	9	0.00996235	0.00223	T	.	.	.	0.341	0.66297	.	.	.	.	0.8330530744206257	0.83264	1.76582254262	0.91186	0.801763296127	0.82231	T	0.266681	0.63865	T	-0.283985	0.10249	T	-0.145663	0.59626	T	0.0119818224087574	0.00188	T	0.885811	0.61165	D	0.1698673	0.37529	0.20088486	0.44042	0.18504024	0.39847	0.18995409	0.42370	-6.919	0.54310	T	0.16272952729859402	0.20006	0.345	0.60619	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.432378	0.47710	22.5	0.998434556513217	0.92403	0.79792	0.39610	D	AEFBI	0.530620	0.55124	D	0.197475479177819	0.51079	3.291961	0.221473599922519	0.51041	3.290122	0.999929019684545	0.46280	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	2.192000	0.42281	1.089000	0.23963	0.529000	0.24592	0.995000	0.38783	0.519000	0.25298	0.989000	0.64315	0.0:1.0:0.0:0.0	18.000	0.89118	679	0.60090	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs61736451	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1464.33	33	chr3	10359892	.	C	T	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=773;ExcessHet=0;FS=2.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.444;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1227	18	0	1	0
chr3	10378407	10378407	T	C	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001330611:exon7:c.A911G:p.K304R,ATP2B2:NM_001363862:exon7:c.A911G:p.K304R,ATP2B2:NM_001683:exon7:c.A911G:p.K304R,ATP2B2:NM_001353564:exon8:c.A911G:p.K304R,ATP2B2:NM_001001331:exon10:c.A1046G:p.K349R	.	413	1107	2	0	0	2	0.000902527	.	.	.	2411988	Hearing_loss,_autosomal_dominant_82	MONDO:MONDO:0030719,MedGen:C5676948,OMIM:619804	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.0603930592264	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001876	29	154602	rs536636171	7.456e-05	7.388e-05	4.261e-05	0.0001	0.0011	6.305e-05	5.86e-05	0.0009	0.0009	0	2.236e-05	0	0	0	0	2.698e-06	0.0001	0.0011	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.097	0.37966	T	0.118	0.36233	T	0.011	0.15914	B	0.033	0.22329	B	0.733083	0.09838	N	0.859113	1	0.81001	D	0.27	0.09956	N	-3.05	0.92407	D	-2.0	0.46146	N	0.448	0.65416	0.067	0.83568	D	0.703	0.89786	D	10	0.068045884	0.09569	T	0.060393	0.67986	D	0.541	0.80842	0.363	0.36874	0.887583475496	0.88648	0.503648621810019	0.50286	1.75140480427	0.90995	0.703874111176	0.67705	T	0.221479	0.58506	T	-0.104237	0.35724	T	0.0369606	0.72730	D	0.154625624462789	0.17465	T	0.927307	0.79398	D	0.15123205	0.34390	0.16587059	0.38350	0.15123205	0.34390	0.16587059	0.38349	-6.673	0.51607	T	0.1920123407708581	0.25215	0.105	0.21728	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.980812	0.82498	27.8	0.99694615030163958	0.80180	0.97578	0.75670	D	AEFDGBI	0.937208	0.93466	D	0.0828563909437188	0.45665	2.819161	0.233720635644782	0.51728	3.352875	0.999999999012111	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.75	4.75	0.59954	8.012000	0.88211	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.435	0.66852	779	0.47767	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	781.33	40	chr3	10378407	.	T	C	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=760;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.24;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr3	10844230	10844230	A	G	exonic	SLC6A11	.	nonsynonymous SNV	SLC6A11:NM_014229:exon5:c.A640G:p.I214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0182333145515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001421585	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.236e-05	9.23e-06	7.84e-06	8.52e-06	6.89e-06	0	2.236e-05	0	0	0	0	1.439e-05	6.623e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.824e-05	8.14e-06	5.14e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	2.94e-05	0	0	0.032	0.44694	D	0.126	0.35205	T	0.081	0.24602	B	0.256	0.39259	B	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	1.895	0.50365	L	-1.0	0.76037	T	-0.83	0.22727	N	0.378	0.41952	-0.3914	0.72297	T	0.377	0.73468	T	10	0.24420261	0.41648	T	0.018233	0.40224	T	0.401	0.71479	0.541	0.65304	0.823609048703	0.82194	0.49872622062524735	0.49793	0.760600988679	0.64244	0.618989348412	0.55587	T	0.112299	0.42846	T	-0.0111857	0.50100	T	-0.238358	0.50958	T	0.426498383283615	0.29931	T	0.906909	0.67118	D	0.2630394	0.49368	0.18797845	0.42061	0.2630394	0.49367	0.18797845	0.42060	-7.76	0.59423	D	.	.	0.138	0.30022	B	.	.	3.675678	0.52287	23.2	0.99612816184788677	0.74932	0.97340	0.74132	D	AEFDBI	0.717077	0.66871	D	0.235730019128579	0.52937	3.465027	0.384374446493909	0.60601	4.249517	0.999659531252218	0.41424	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.168000	0.58007	11.257000	0.90944	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.8519:0.1481:0.0:0.0	11.665	0.50632	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1645.33	35	chr3	10844230	.	A	G	1645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.685;DP=750;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.781;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1186:.	18	0	1	0
chr3	10875078	10875078	C	T	exonic	SLC6A11	.	nonsynonymous SNV	SLC6A11:NM_014229:exon6:c.C874T:p.R292W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.440366199466	.	.	8.367e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs757531916	2.058e-06	2.736e-06	0	4.141e-06	1.165e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.695	0.94570	H	-1.02	0.76300	T	-6.94	0.93440	D	0.906	0.90704	0.808	0.94510	D	0.758	0.91763	D	10	0.9395711	0.93283	D	0.440366	0.94153	D	0.854	0.95507	0.522	0.62518	0.94778359972	0.94723	0.7376326952781574	0.73708	1.57236916457	0.88220	0.817094027996	0.84582	D	0.656612	0.89643	D	0.377219	0.88529	D	0.304072	0.88384	D	0.997934460639954	0.92797	D	0.921608	0.71541	D	0.9368778	0.94930	0.9356959	0.97483	0.9368778	0.94930	0.9356959	0.97483	-13.761	0.92254	D	.	.	0.886	0.81827	P	.	.	5.145893	0.86174	28.8	0.99907812746027091	0.97801	0.91588	0.53843	D	AEFBI	0.619474	0.60489	D	0.784965397446847	0.85154	8.492952	0.657681819092726	0.79184	7.029054	0.939139748245901	0.27374	0.549168	0.22868	0	0.573888	0.26702	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	5.25	4.37	0.51830	2.566000	0.45611	2.163000	0.30996	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.933000	0.47100	0.143:0.857:0.0:0.0	15.037	0.71417	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1579.33	34	chr3	10875078	.	C	T	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=769;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.201;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1462	18	0	1	0
chr3	11018647	11018647	C	G	exonic	SLC6A1	.	stopgain	SLC6A1:NM_001348250:exon5:c.C420G:p.Y140X,SLC6A1:NM_001348251:exon5:c.C60G:p.Y20X,SLC6A1:NM_003042:exon5:c.C420G:p.Y140X	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.9e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	8.764190	0.97991	38	0.99715845803623193	0.81703	0.94598	0.61689	D	AEFDBI	0.162699	0.28890	N	0.647254133725166	0.76191	6.441153	0.486709776876107	0.67108	5.04014	0.9095199609595	0.26314	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	3.71	0.41733	3.332000	0.51798	2.256000	0.31725	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8347:0.0:0.1653	9.207	0.36459	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.95	34	chr3	11018647	.	C	G	93.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.803;DP=1057;ExcessHet=0;FS=143.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.49;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1246:.	18	0	1	0
chr3	11018648	11018648	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A421G:p.I141V,SLC6A1:NM_001348251:exon5:c.A61G:p.I21V,SLC6A1:NM_003042:exon5:c.A421G:p.I141V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0134550420386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-06	1.029e-05	1.377e-06	1.388e-06	1.822e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.822e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.336	0.18232	T	0.1	0.25713	B	0.09	0.29851	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-0.81	0.73949	T	-0.8	0.22078	N	0.48	0.51494	-0.6455	0.62909	T	0.281	0.65239	T	10	0.49007845	0.60939	T	0.013455	0.32862	T	0.274	0.59007	0.594	0.72371	0.35158688536	0.34763	0.606656179932116	0.60596	1.10768363041	0.77946	0.767571687698	0.77061	T	0.166415	0.51264	T	0.0481983	0.58110	T	-0.168543	0.57575	T	0.885394752025604	0.53572	D	0.946405	0.79487	D	0.3557571	0.57511	0.3215052	0.58098	0.3557571	0.57512	0.3215052	0.58097	-7.56	0.58031	D	0.21143025180598024	0.28348	0.131	0.40873	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.885109	0.56491	23.7	0.99830203036871212	0.91198	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.0702871894512385	0.45080	2.770647	0.228486286727377	0.51435	3.32594	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	9.197000	0.94121	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	100.59	34	chr3	11018648	.	A	G	100.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.337;DP=1226;ExcessHet=0.119;FS=143.297;InbreedingCoeff=-0.07;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.57;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1246:.	16	0	2	1
chr3	11018650	11018650	C	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.C423G:p.I141M,SLC6A1:NM_001348251:exon5:c.C63G:p.I21M,SLC6A1:NM_003042:exon5:c.C423G:p.I141M	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.168165705583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.921e-07	2.745e-05	0	1.39e-06	9.12e-07	0	0	.	.	0	0	0	0	0	0	9.12e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.056	0.46632	T	0.997	0.70673	D	0.983	0.75793	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	-0.86	0.74477	T	-2.72	0.57920	D	0.712	0.71498	-0.1389	0.79192	T	0.487	0.80481	T	10	0.740451	0.74920	D	0.168166	0.84634	D	0.549	0.81310	0.642	0.77903	0.775990597106	0.77392	0.7922737914106367	0.79179	2.20691490998	0.95719	0.801707386971	0.82223	T	0.479037	0.80861	T	0.223315	0.76090	D	0.0830001	0.75779	D	0.992396652698517	0.82863	D	0.979902	0.93196	D	0.84575653	0.87024	0.824651	0.89838	0.84575653	0.87025	0.824651	0.89839	-9.95	0.73612	D	0.4152341453612568	0.50488	0.503	0.74451	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.233609	0.28512	17.82	0.99523552016800376	0.69407	0.49042	0.28344	N	AEFDBI	0.466840	0.51432	N	-0.0123338758181482	0.41298	2.467657	-0.19231532369841	0.31818	1.804246	0.126199393065238	0.16994	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-2.98	0.05179	-0.318000	0.08091	-8.895000	0.00897	0.547000	0.25779	0.340000	0.25675	0.000000	0.08366	0.998000	0.85391	0.0:0.2937:0.0:0.7063	13.005	0.58106	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	594.8	102	chr3	11018650	.	C	G	594.8	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.351;DP=1828;ExcessHet=0.7564;FS=184.928;InbreedingCoeff=-0.2947;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.66;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:99,0:99:59:.:.:0,59,2102:.	7	0	2	10
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1818	277.31	105	chr3	11018654	.	A	G	277.31	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-3.101;DP=1834;ExcessHet=0.7564;FS=172.536;InbreedingCoeff=-0.2748;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.95;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	7	0	4	8
chr3	11298742	11298742	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001136031:exon2:c.C47T:p.A16V,ATG7:NM_001144912:exon2:c.C47T:p.A16V,ATG7:NM_001349236:exon2:c.C47T:p.A16V,ATG7:NM_001349237:exon2:c.C47T:p.A16V,ATG7:NM_006395:exon2:c.C47T:p.A16V,ATG7:NM_001349233:exon3:c.C47T:p.A16V,ATG7:NM_001349234:exon3:c.C47T:p.A16V,ATG7:NM_001349235:exon3:c.C47T:p.A16V,ATG7:NM_001349232:exon4:c.C47T:p.A16V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00255007878281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.888	0.18732	T	0.008	0.15535	B	0.014	0.16862	B	0.000000	0.84330	D	0.000000	0.997736	0.46519	D	1.235	0.30780	L	0.77	0.49642	T	-1.46	0.40274	N	0.282	0.32148	-1.0559	0.12803	T	0.092	0.35174	T	10	0.19337314	0.35104	T	0.00255	0.05121	T	0.093	0.26882	0.358	0.36060	0.635043139505	0.63204	0.44623286879870006	0.44541	0.266350073935	0.29174	0.688198685646	0.65446	T	0.098627	0.49805	T	-0.13711	0.30351	T	-0.434725	0.29399	T	0.283799648284912	0.24331	T	0.943906	0.78806	D	0.092977695	0.21827	0.11605896	0.28018	0.092977695	0.21826	0.11605896	0.28018	-5.847	0.44982	T	.	.	0.088	0.47094	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.545915	0.49826	22.8	0.93860112084066916	0.23865	0.90082	0.50985	D	AEFBI	0.210225	0.33614	N	-0.030613411087642	0.40473	2.404101	0.195988603805205	0.49625	3.163594	0.999998316606923	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	2.224000	0.42587	4.849000	0.45357	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.997000	0.79791	0.0:0.8596:0.0:0.1404	10.776	0.45553	655	0.62421	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;.;.;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2830.81	33	chr3	11298742	.	C	T	2830.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.44;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	1	0	0
chr3	11298777	11298777	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001136031:exon2:c.C82T:p.H28Y,ATG7:NM_001144912:exon2:c.C82T:p.H28Y,ATG7:NM_001349236:exon2:c.C82T:p.H28Y,ATG7:NM_001349237:exon2:c.C82T:p.H28Y,ATG7:NM_006395:exon2:c.C82T:p.H28Y,ATG7:NM_001349233:exon3:c.C82T:p.H28Y,ATG7:NM_001349234:exon3:c.C82T:p.H28Y,ATG7:NM_001349235:exon3:c.C82T:p.H28Y,ATG7:NM_001349232:exon4:c.C82T:p.H28Y	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.00790857879451	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400707538	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	0.79	0.49068	T	-4.96	0.83557	D	0.861	0.87917	-0.4344	0.70919	T	0.358	0.71998	T	10	0.8127272	0.80541	D	0.007909	0.20981	T	0.416	0.72631	0.504	0.59770	0.794174676061	0.79225	0.8221237066898556	0.82169	0.683117949677	0.60146	0.762381136417	0.76285	T	0.286429	0.87761	T	0.0282254	0.55487	T	-0.0157047	0.69311	D	0.992834568023682	0.83423	D	0.962104	0.87848	D	0.80308133	0.84103	0.88198686	0.93701	0.80308133	0.84104	0.88198686	0.93701	-7.8	0.59699	D	.	.	0.291	0.57355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.059414	0.60236	24.2	0.99842794792709455	0.92316	0.98398	0.82369	D	AEFGBI	0.890512	0.82562	D	0.924046529384758	0.92887	11.68929	0.916025701882504	0.96232	14.45373	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.432000	0.79528	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.474	0.99171	655	0.62421	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;.;.;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1075.33	33	chr3	11298777	.	C	T	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.753;DP=706;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.128;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	0	1	0
chr3	11364687	11364687	G	A	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon15:c.G1711A:p.D571N,ATG7:NM_001349236:exon15:c.G1711A:p.D571N,ATG7:NM_001349237:exon15:c.G1669A:p.D557N,ATG7:NM_001349238:exon15:c.G895A:p.D299N,ATG7:NM_001136031:exon16:c.G1828A:p.D610N,ATG7:NM_006395:exon16:c.G1828A:p.D610N,ATG7:NM_001349233:exon17:c.G1828A:p.D610N,ATG7:NM_001349234:exon17:c.G1828A:p.D610N,ATG7:NM_001349235:exon17:c.G1828A:p.D610N,ATG7:NM_001349232:exon18:c.G1828A:p.D610N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0116595330811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010940656	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.195	0.33585	T	0.259	0.33000	T	0.984	0.61118	D	0.463	0.46548	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.36	0.34107	L	0.9	0.45636	T	-1.36	0.33798	N	0.693	0.74918	-0.8299	0.53308	T	0.227	0.59183	T	10	0.30248535	0.47785	T	0.01166	0.29506	T	0.115	0.32236	0.161	0.06507	0.697181737278	0.69456	0.4850574085507603	0.48425	0.273939008093	0.29895	0.789423346519	0.80355	T	0.129462	0.45775	T	-0.14086	0.29753	T	-0.440112	0.28796	T	0.973237454891205	0.70014	D	0.978402	0.95985	D	0.22757107	0.45460	0.20088989	0.44042	0.22757107	0.45460	0.20088989	0.44041	-3.862	0.39033	T	.	.	0.497	0.64459	A	.;.;.;.	.;.;.;.	4.887895	0.80225	27.3	0.99809541868911933	0.89353	0.99111	0.91387	D	AEFBI	0.842803	0.75988	D	0.456187619690907	0.64554	4.712681	0.561855331431496	0.72225	5.776549	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.210000	0.94212	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	19.393	0.94585	667	0.61242	.;.;THIF-type NAD/FAD binding fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1636.33	33	chr3	11364687	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=789;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.263;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1383	18	0	1	0
chr3	12519111	12519111	C	G	exonic	TSEN2	.	nonsynonymous SNV	TSEN2:NM_001145393:exon7:c.C935G:p.T312R,TSEN2:NM_001321279:exon7:c.C935G:p.T312R,TSEN2:NM_001145392:exon8:c.C1013G:p.T338R,TSEN2:NM_001321277:exon8:c.C1013G:p.T338R,TSEN2:NM_001321278:exon8:c.C1013G:p.T338R,TSEN2:NM_025265:exon8:c.C1013G:p.T338R,TSEN2:NM_001145394:exon9:c.C836G:p.T279R	Pontocerebellar hypoplasia type 2B, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	168093	Pontocerebellar_hypoplasia_type_2B|not_provided|Pontoneocerebellar_hypoplasia	MONDO:MONDO:0012890,MedGen:C2676466,OMIM:612389,Orphanet:2524|MedGen:C3661900|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.080	0.0196023200173	0.0008	0.000399361	0.0007	9.61e-05	0.0006	0	0	0.0010	0	0.0009	0.0006662	103	154602	rs145142315	0.0005	0.0005	0.0004	0.0005	0.0029	0.0005	0.0004	0.0019	0.0015	5.974e-05	0.0004	0.0044	0	0	0.0029	0.0004	0.0004	0.0009	0.0005	0.0005	0.0006	0.0004	0.0006	0.0004	0.0003	0.0005	0.0004	7.217e-05	0	0.0004	0.0046	0	0	0	0.0006	0.0005	0.0006	0.004	0.65419	D	0.166	0.30828	T	0.029	0.26116	B	0.072	0.35999	B	0.000759	0.42006	D	0.234404	0.957774	0.26249	N	0.87	0.21467	L	0.53	0.55090	T	-3.5	0.70920	D	0.375	0.41656	-1.0304	0.20325	T	0.069	0.28280	T	10	0.014025748	0.00296	T	0.019602	0.42004	T	0.080	0.23350	.	.	0.426202426774	0.42236	0.48756490736101177	0.48676	0.0368184653303	0.03901	0.364135503769	0.19986	T	0.089693	0.57379	T	-0.374665	0.03365	T	-0.361397	0.37890	T	0.0449270263711947	0.04588	T	0.834817	0.55989	T	0.21933375	0.44463	0.2965419	0.55686	0.19455718	0.41210	0.24949014	0.50521	-11.386	0.83202	D	0.5815352431237928	0.64838	0.196	0.41708	B	.;.;.;.;.;.	.;.;.;.;.;.	3.160432	0.42816	21.6	0.98591187228559085	0.43375	0.10941	0.16299	N	AEFBI	0.056250	0.10384	N	-0.457348436638232	0.23491	1.261914	-0.272800306549809	0.28997	1.621188	0.999855783134033	0.44174	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.39	5.39	0.77615	1.543000	0.35754	3.882000	0.40245	0.596000	0.33519	0.028000	0.20300	0.272000	0.24054	0.997000	0.79791	0.1398:0.6117:0.2485:0.0	9.645	0.39028	740	0.53092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	2843.81	34	chr3	12519111	.	C	G	2843.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.16;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	1	0	0
chr3	12574864	12574864	A	G	exonic	MKRN2	.	nonsynonymous SNV	MKRN2:NM_001271707:exon4:c.A586G:p.S196G,MKRN2:NM_014160:exon5:c.A715G:p.S239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0718510612964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438570246	4.104e-06	4.104e-06	5.445e-06	2.75e-06	4.472e-05	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	3.597e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.999	0.77913	D	0.97	0.72226	D	0.000006	0.62929	D	0.157550	0.981304	0.41561	D	-1.075	0.01037	N	-2.16	0.86549	D	1.48	0.00756	N	0.473	0.52208	-0.2427	0.76556	T	0.476	0.79914	T	10	0.3584823	0.52539	T	0.071851	0.71379	D	0.374	0.69273	0.652	0.78963	0.901295844035	0.90031	0.7812033256607556	0.78071	0.736792843513	0.63020	0.614679574966	0.54977	T	0.188	0.54111	T	-0.160911	0.26620	T	-0.293067	0.45452	T	0.406285375356674	0.29179	T	0.676832	0.50694	T	0.08187904	0.18835	0.11455968	0.27653	0.08187904	0.18834	0.11455968	0.27653	-3.551	0.22587	T	.	.	0.107	0.19919	B	.;.;.	.;.;.	3.685363	0.52475	23.2	0.9396941250508356	0.24043	0.93126	0.57395	D	AEFDBCIJ	0.177242	0.30448	N	0.25597989315576	0.53935	3.560501	0.360294357138306	0.59129	4.088374	0.999767079163292	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.945000	0.56346	9.320000	0.80036	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9275:0.0:0.0725:0.0	10.45	0.43702	700	0.57880	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2621.33	34	chr3	12574864	.	A	G	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.951;DP=875;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.929;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1409	18	0	1	0
chr3	12817705	12817705	G	A	exonic	CAND2	.	nonsynonymous SNV	CAND2:NM_012298:exon8:c.G2494A:p.A832T,CAND2:NM_001162499:exon10:c.G2773A:p.A925T	.	.	.	.	.	.	.	.	.	.	.	2726671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0375546645316	.	.	2.646e-05	0	0	0	0	4.65e-05	0	0	1.94e-05	3	154602	rs774791381	1.87e-05	2.668e-05	2.2e-05	1.535e-05	3.027e-05	1.281e-05	1.098e-05	1.389e-05	1.16e-05	3.027e-05	0	4.051e-05	0	1.91e-05	0	2.085e-05	1.681e-05	0	1.313e-05	1.313e-05	2.568e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.119	0.32141	T	0.289	0.21078	T	1.0	0.90584	D	0.992	0.80445	D	0.115825	0.19218	N	0.547106	0.632991	0.31258	N	1.745	0.45235	L	-0.2	0.66113	T	-1.6	0.38540	N	0.113	0.10056	-0.6923	0.60801	T	0.285	0.65734	T	10	0.11951935	0.22620	T	0.037555	0.57689	D	0.086	0.25016	0.217	0.13788	0.757704877949	0.75550	0.1280928331873558	0.12734	0.172383796929	0.19416	0.536725819111	0.43984	T	0.010335	0.09344	T	-0.179496	0.23811	T	-0.49561	0.22805	T	0.260822236537933	0.23350	T	0.823718	0.48487	T	0.070553094	0.15551	0.08143518	0.18506	0.070553094	0.15550	0.08143518	0.18506	-5.689	0.43596	T	.	.	0.085	0.14201	B	.;.	.;.	2.423873	0.31176	18.66	0.99895444036361492	0.96819	0.89861	0.50605	D	AEFDBI	0.237732	0.35997	N	0.111983478148435	0.47022	2.933755	0.186267654270288	0.49095	3.116822	0.999438337562011	0.39683	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	4.74	4.74	0.59717	1.131000	0.31019	4.021000	0.41251	0.676000	0.76740	0.608000	0.27813	1.000000	0.68203	0.930000	0.46718	0.0:0.1821:0.8179:0.0	11.483	0.49587	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2205.33	40	chr3	12817705	.	G	A	2205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.235;DP=835;ExcessHet=0;FS=2.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.251;SOR=0.884	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	12901342	12901342	G	A	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon14:c.C2986T:p.H996Y,IQSEC1:NM_001376938:exon16:c.C3310T:p.H1104Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243279198	8.037e-06	8.911e-06	8.665e-06	7.394e-06	0.0001	4.31e-06	3.15e-06	3.826e-05	2.268e-05	0	0.0001	0	0	0	0	6.607e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.481	0.51583	-1.0479	0.14988	T	0.021	0.08778	T	7	0.014332116	0.00302	T	.	.	.	.	.	.	.	0.168254554758	0.16434	0.21509398744792244	0.21425	.	.	0.792461872101	0.80818	T	0.01139	0.10166	T	-0.456558	0.01032	T	-0.424446	0.30566	T	0.0632088216221369	0.07664	T	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.747667	0.22237	15.54	0.63978740292772485	0.07368	0.91300	0.53256	D	AEFDBI	0.298010	0.40744	N	-0.330844099851717	0.27982	1.539677	-0.417262820666875	0.24490	1.341366	0.999999700848011	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.07	3.07	0.34476	4.831000	0.62441	3.891000	0.40294	0.571000	0.28931	1.000000	0.71638	0.999000	0.35428	0.004000	0.06068	0.0:0.0:1.0:0.0	11.848	0.51669	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1262.33	37	chr3	12901342	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=811;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.021;SOR=0.813	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr3	13339919	13339919	C	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon25:c.G3406A:p.G1136S	.	427	1087	7	1	0	9	0.00412277	.	.	.	720187	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0072	0.00239617	0.0058	0.0016	0.0025	0	0.0113	0.0082	0.0121	0.0016	0.0058279	901	154602	rs114096350	0.0076	0.0076	0.0076	0.0075	0.0084	0.0074	0.0074	0.0083	0.0082	0.0014	0.0049	0.0022	0	0.0146	0.0019	0.0084	0.0064	0.0021	0.0060	0.0060	0.0061	0.0058	0.0081	0.0056	0.0055	0.0076	0.0073	0.0017	0	0.0053	0.0035	0.0002	0.0166	0	0.0081	0.0047	0.0014	0.175	0.22400	T	0.256	0.23298	T	0.172	0.28767	B	0.059	0.26602	B	0.004769	0.33407	N	0.247074	0.969035	0.38700	D	1.1	0.28011	L	1.04	0.40218	T	0.32	0.03955	N	0.36	0.40164	-1.0911	0.05351	T	0.046	0.19559	T	10	0.008646876	0.00196	T	.	.	.	0.022	0.04323	.	.	0.368743488249	0.36480	0.3656043433622361	0.36474	0.183203080201	0.20607	0.299419939518	0.10314	T	0.022369	0.17257	T	-0.554441	0.00274	T	-0.561943	0.16195	T	0.00712861587904812	0.00081	T	0.70443	0.31478	T	0.022155683	0.00859	0.040996384	0.04560	0.022155683	0.00859	0.040996384	0.04559	-4.87	0.35396	T	.	.	0.077	0.06525	B	.	.	0.768721	0.11385	7.999	0.93128085776179514	0.22767	0.72081	0.35295	D	AEFBCI	0.152902	0.27767	N	-0.634244164029589	0.17922	0.9263802	-0.580901606414848	0.19991	1.07509	0.967538436368108	0.28984	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.19	3.4	0.38031	2.302000	0.43298	0.544000	0.19360	-0.171000	0.11205	0.846000	0.30379	0.083000	0.22416	0.008000	0.08271	0.0:0.7773:0.0:0.2227	9.722	0.39474	814	0.42100	Bacterial Ig-like, group 2|Bacterial Ig-like, group 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2007.33	34	chr3	13339919	.	C	T	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=806;ExcessHet=0;FS=9.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.682;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1216	18	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.07895	4932.79	34	chr3	13571581	.	C	T	4932.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.21;DP=1003;ExcessHet=0.3672;FS=3.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.752;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	16	0	3	0
chr3	14158042	14158042	A	G	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.T1262C:p.F421S,XPC:NM_001354727:exon9:c.T1841C:p.F614S,XPC:NM_001354729:exon9:c.T1823C:p.F608S,XPC:NM_004628:exon9:c.T1841C:p.F614S	Xeroderma pigmentosum, group C, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	139230	Xeroderma_pigmentosum,_group_C|not_provided|not_specified	MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0065	0.00738818	0.0019	0.0212	0.0008	0	0	4.526e-05	0	6.449e-05	0.0018176	281	154602	rs144766677	0.0007	0.0007	0.0008	0.0006	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0011	0	0	0	0.0012	3.356e-05	0.0020	1.161e-05	0.0066	0.0066	0.0069	0.0062	0.0234	0.0063	0.0061	0.0222	0.0217	0.0234	0	0.0011	0	0	0	0	5.881e-05	0.0057	0	0.847	0.02760	T	0.533	0.10000	T	0.013	0.16609	B	0.012	0.16012	B	0.572730	0.11222	N	0.827429	1	0.08975	N	1.76	0.45711	L	2.08	0.20255	T	-0.69	0.19720	N	0.083	0.05929	-0.9653	0.38151	T	0.021	0.08639	T	10	0.0030424297	0.00050	T	.	.	.	0.028	0.06331	.	.	0.0716867268079	0.06686	0.6015973904220197	0.60090	0.229049300073	0.25467	0.269284456968	0.06048	T	0.05879	0.30939	T	-0.555908	0.00269	T	-0.552375	0.17099	T	0.00102658063608188	0.00010	T	0.506149	0.16021	T	0.082294576	0.18951	0.05861703	0.10860	0.082294576	0.18951	0.05861703	0.10860	-7.209	0.55546	T	0.4990513869816032	0.57458	0.087	0.11366	B	.	.	1.175766	0.15656	12.01	0.31485855820675596	0.01777	0.28305	0.23518	N	AEFDBCI	0.159790	0.28564	N	-1.12517299757964	0.06199	0.2846834	-1.15883103892698	0.06611	0.3187755	0.999504240481636	0.40062	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.59	0.101	0.13823	0.890000	0.27931	1.031000	0.23480	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.4012:0.2451:0.0:0.3537	6.711	0.22466	789	0.46346	Rad4/PNGase transglutaminase-like fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.012228	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2462.81	37	chr3	14158042	.	A	G	2462.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.69;SOR=2.472	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1335	18	1	0	0
chr3	14158513	14158513	T	C	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.A791G:p.D264G,XPC:NM_001354727:exon9:c.A1370G:p.D457G,XPC:NM_001354729:exon9:c.A1352G:p.D451G,XPC:NM_001354730:exon9:c.A1370G:p.D457G,XPC:NM_004628:exon9:c.A1370G:p.D457G	Xeroderma pigmentosum, group C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0296908413538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.014	0.62352	D	0.291	0.32334	B	0.217	0.37636	B	0.021198	0.26883	N	0.409870	0.697013	0.33383	D	2.135	0.59519	M	1.2	0.37405	T	-2.81	0.59389	D	0.139	0.13769	-0.8726	0.50333	T	0.107	0.38931	T	10	0.16393706	0.30683	T	0.029691	0.52149	D	0.074	0.21613	0.199	0.11247	0.253205268125	0.24938	0.3517453119887073	0.35088	0.158322275687	0.17880	0.339202880859	0.16318	T	0.371166	0.73558	T	-0.165059	0.25985	T	-0.474872	0.24994	T	0.527905464172363	0.33656	D	0.654835	0.26514	T	0.25415453	0.48441	0.1824565	0.41173	0.25415453	0.48441	0.1824565	0.41172	-3.201	0.12493	T	0.4274954006977505	0.51520	0.073	0.04764	B	.	.	1.837187	0.23342	15.98	0.96596642866554205	0.30391	0.92053	0.54840	D	AEFBCI	0.274881	0.38996	N	-0.358066881171422	0.26977	1.476526	-0.372752827063915	0.25812	1.421844	0.999994269119281	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	3.31	0.37025	2.373000	0.43920	1.789000	0.28782	0.665000	0.62972	0.998000	0.41325	0.025000	0.21018	0.064000	0.16252	0.0:0.137:0.0:0.863	10.005	0.41123	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	37	chr3	14158513	.	T	C	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.327;DP=748;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.783;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr3	14479174	14479174	G	A	exonic	SLC6A6	.	nonsynonymous SNV	SLC6A6:NM_001134367:exon13:c.G1843A:p.V615I,SLC6A6:NM_003043:exon13:c.G1540A:p.V514I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0261846860436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.13252	T	0.0	0.02946	B	0.003	0.08700	B	0.061642	0.22156	N	0.474449	0.999992	0.08975	N	-0.055	0.04927	N	.	.	.	.	.	.	0.135	0.13198	-0.9837	0.34140	T	0.124	0.42736	T	10	0.045062065	0.03533	T	0.026185	0.49115	D	.	.	0.427	0.47350	0.043077524339	0.03247	0.1390822013152825	0.13831	.	.	0.25244858861	0.04029	T	0.072827	0.34551	T	-0.257865	0.13152	T	-0.608181	0.12133	T	0.0942636281251907	0.11713	T	0.876612	0.58915	D	0.019114893	0.00437	0.02960055	0.01315	0.019114893	0.00437	0.02960055	0.01315	-3.538	0.16968	T	0.09680259060754973	0.06741	0.072	0.04238	B	.;.	.;.	1.561145	0.19999	14.54	0.3901827755273905	0.02667	0.23327	0.22040	N	AEFBI	0.078552	0.15851	N	-0.875079748910181	0.11438	0.5519505	-0.714901949067736	0.16590	0.8783379	0.993050133528946	0.33067	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	2.32	0.27895	0.560000	0.23204	2.176000	0.31092	0.618000	0.50648	0.212000	0.24446	0.988000	0.31051	0.998000	0.85391	0.2069:0.259:0.534:0.0	7.047	0.24229	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1474.33	34	chr3	14479174	.	G	A	1474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=753;ExcessHet=0;FS=2.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.578;SOR=0.968	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1488,0,1173	18	0	1	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014170	0.000000	0.016393	0.014620	0.000000	0.017544	0.021472	0.011450	0.02632	856.33	42	chr3	14514356	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.943;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.726;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1310	18	0	1	0
chr3	14517814	14517814	T	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon10:c.A1114T:p.M372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.87e-07	6.84e-07	1.366e-06	0	2.28e-05	0	0	.	.	0	2.28e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.663	0.06448	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.22804484	0.39700	T	.	.	.	.	.	.	.	0.483301346737	0.47961	0.21758779784991739	0.21674	.	.	0.465338587761	0.34042	T	0.019416	0.15476	T	0.00382577	0.52182	T	-0.232281	0.51552	T	.	.	.	0.670533	0.27914	T	0.17883763	0.38924	0.38130134	0.63143	0.17883763	0.38924	0.38130134	0.63143	-0.557	0.00619	T	.	.	0.095	0.15832	B	.;.;.	.;.;.	1.436834	0.18559	13.80	0.62682024299662875	0.07025	0.88479	0.48426	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.990977421840037	0.32331	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.177715	0.29333	4.0	-1.76	0.07574	0.850000	0.27389	0.649000	0.20393	0.609000	0.47794	1.000000	0.71638	0.949000	0.28973	0.996000	0.76049	0.0:0.1678:0.2935:0.5387	4.994	0.13575	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	743.33	37	chr3	14517814	.	T	A	743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=723;ExcessHet=0;FS=3.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.47;SOR=0.361	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	18	0	1	0
chr3	14682769	14682769	C	A	exonic	C3orf20	.	nonsynonymous SNV	C3orf20:NM_032137:exon3:c.C56A:p.P19H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0358113473402	.	.	4.956e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs755732675	2.189e-05	2.189e-05	1.089e-05	3.3e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.312e-05	0.0003	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000364	0.45194	D	0.000000	0.993974	0.81001	D	1.495	0.37439	L	1.89	0.23688	T	-4.76	0.80340	D	0.715	0.71765	-0.9955	0.31164	T	0.120	0.41886	T	10	0.6907275	0.71839	D	0.035811	0.56586	D	0.300	0.62068	0.445	0.50302	0.365120060079	0.36123	0.5068744728620146	0.50609	0.484872331888	0.47389	.	.	.	0.122996	0.44705	T	-0.198155	0.21071	T	-0.206256	0.54052	T	0.730884790420532	0.42256	D	0.710429	0.32156	T	0.6759004	0.76749	0.6185769	0.77788	0.6759004	0.76750	0.6185769	0.77789	-4.373	0.29188	T	.	.	0.743	0.74769	P	.	.	4.131016	0.61814	24.4	0.99681090048939103	0.79241	0.89798	0.50499	D	AEFBI	0.504365	0.53596	D	0.546821993692306	0.69888	5.421537	0.539736626376811	0.70687	5.541852	0.873107244122998	0.25459	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	3.995000	0.56715	7.600000	0.61533	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.386000	0.26469	0.0:1.0:0.0:0.0	15.838	0.78592	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	33	chr3	14682769	.	C	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=732;ExcessHet=0;FS=3.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.931;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1237	18	0	1	0
chr3	14728494	14728494	C	G	exonic	C3orf20	.	nonsynonymous SNV	C3orf20:NM_001184957:exon12:c.C1380G:p.F460L,C3orf20:NM_001184958:exon12:c.C1380G:p.F460L,C3orf20:NM_032137:exon12:c.C1746G:p.F582L	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0029971420584	0.0068	0.00219649	0.0059	0.0013	0.0041	0	0.0030	0.0092	0.0077	0.0005	0.0063518	982	154602	rs35363400	0.0086	0.0086	0.0089	0.0083	0.0104	0.0085	0.0084	0.0102	0.0102	0.0012	0.0056	0.0005	2.519e-05	0.0043	0.0014	0.0104	0.0071	0.0006	0.0063	0.0063	0.0069	0.0057	0.0102	0.0059	0.0058	0.0096	0.0093	0.0021	0.0230	0.0071	0	0	0.0026	0	0.0102	0.0080	0.0004	0.319	0.14256	T	0.485	0.11725	T	0.021	0.18474	B	0.009	0.14300	B	0.050699	0.02015	N	2.272200	1	0.08975	N	0.665	0.16292	N	3.49	0.07236	T	0.47	0.03297	N	0.063	0.03502	-0.9486	0.41211	T	0.015	0.06090	T	10	0.0049746633	0.00107	T	0.002997	0.06427	T	0.025	0.05312	0.197	0.10975	0.0138822411134	0.00435	0.24176502467370015	0.24090	0.0936402175111	0.10581	.	.	.	0.001217	0.00709	T	-0.698459	0.00037	T	-0.766669	0.02880	T	0.000316693098865248	0.00003	T	0.291471	0.05330	T	0.044411674	0.07093	0.033032537	0.02133	0.044411674	0.07093	0.033032537	0.02133	-2.054	0.03575	T	.	.	0.268	0.50204	B	.;.;.	.;.;.	-0.273065	0.02738	0.364	0.61885247883464733	0.06822	0.03199	0.08192	N	AEFBI	0.036734	0.04943	N	-1.2242725295259	0.04650	0.2103191	-1.261458728331	0.04963	0.2354065	0.00609020068578502	0.11125	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.3	1.47	0.21832	-0.057000	0.11726	-0.098000	0.11976	-1.095000	0.01525	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.5728:0.4272:0.0	9.453	0.37901	850	0.35610	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1620.33	34	chr3	14728494	.	C	G	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.293;DP=759;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-2.559;SOR=0.729	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1634,0,1990	18	0	1	0
chr3	14821382	14821382	A	G	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.A2311G:p.T771A,FGD5:NM_152536:exon1:c.A2311G:p.T771A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0599666342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758102680	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.92824	D	0.999	0.77913	D	0.98	0.79672	D	0.000012	0.62929	D	0.000000	0.999999	0.58761	D	2.395	0.69210	M	-1.15	0.77964	T	-2.96	0.61722	D	0.501	0.60664	0.314	0.87773	D	0.612	0.86283	D	10	0.5589818	0.64680	D	0.059967	0.67842	D	0.440	0.74377	0.17	0.07536	0.82761734433	0.82598	0.498132606413672	0.49734	0.647461528529	0.58125	0.664123654366	0.61999	T	0.045417	0.27117	T	0.100428	0.64338	D	-0.0935188	0.63896	T	0.949006378650665	0.63018	D	0.781022	0.41604	T	0.3377255	0.56098	0.374615	0.62623	0.3377255	0.56098	0.374615	0.62623	-7.097	0.54739	T	.	.	0.411	0.60199	A	.;.;.	.;.;.	4.119486	0.61562	24.4	0.99808404486233249	0.89264	0.98426	0.82655	D	AEFDBI	0.886524	0.81799	D	0.774308025875422	0.84476	8.298314	0.735081247778577	0.85037	8.463136	0.999999960381602	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	8.617000	0.90710	6.977000	0.57111	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.079	0.71772	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2005.33	36	chr3	14821382	.	A	G	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.573;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr3	14926147	14926147	G	C	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_152536:exon18:c.G4146C:p.K1382N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.036770149645	.	.	8.282e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777680897	6.842e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.007	0.69154	D	0.992	0.64738	D	0.928	0.66279	D	0.000575	0.43250	D	0.098818	0.999677	0.81001	D	2.635	0.77114	M	2.13	0.19588	T	-1.68	0.40082	N	0.552	0.57775	-1.0183	0.24269	T	0.109	0.39320	T	10	0.6339275	0.68673	D	0.03677	0.57199	D	0.267	0.58126	0.674	0.81200	0.591650888875	0.58842	0.5900949824051624	0.58939	0.693826668167	0.60735	0.565224528313	0.48004	T	0.418612	0.77090	T	-0.180144	0.23713	T	-0.399687	0.33420	T	0.81395311167434	0.47330	D	0.829517	0.49484	T	0.11806381	0.27823	0.13386129	0.32090	0.11806381	0.27823	0.13386129	0.32090	-5.593	0.42728	T	.	.	0.606	0.69115	P	.	.	3.523604	0.49401	22.8	0.99797305798887359	0.88283	0.77384	0.38041	D	AEFDGBCI	0.408548	0.48018	N	0.181176457610154	0.50296	3.220941	0.110094659573462	0.45062	2.776306	0.999962356901673	0.48965	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.61	1.24	0.20416	0.661000	0.24706	2.361000	0.32372	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4754:0.0:0.5246:0.0	9.598	0.38754	900	0.24599	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1336.33	37	chr3	14926147	.	G	C	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.616;DP=730;ExcessHet=0;FS=8.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.466;SOR=0.911	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:215,40:255:66:0|1:15003967_C_G:0,66,6377:15003967	8	0	11	0
chr3	15023341	15023341	G	A	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon6:c.G698A:p.G233E,NR2C2:NM_003298:exon7:c.G755A:p.G252E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.139267528693	7.7e-05	.	7.425e-05	0	8.643e-05	0	0	7.503e-05	0	0.0002	5.82e-05	9	154602	rs141549777	3.079e-05	3.078e-05	2.995e-05	3.163e-05	0.0002	2.347e-05	2.095e-05	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0.0003	0	0	0.0002	1.978e-05	0.0001	6.956e-05	3.285e-05	3.283e-05	2.568e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	.	.	2.412e-05	0	0	0.0003	0	0	0	1.47e-05	0.0005	0.0002	0.175	0.22400	T	0.322	0.21745	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.093526	0.993652	0.42009	D	0.755	0.19153	N	-3.14	0.92884	D	-0.23	0.10656	N	0.444	0.48227	0.031	0.82862	D	0.608	0.86094	D	10	0.12213865	0.23165	T	0.139268	0.82175	D	0.517	0.79400	.	.	0.341886373756	0.33793	0.7787589395014495	0.77826	1.13531885789	0.78762	0.65823584795	0.61157	T	0.131998	0.46182	T	-0.0468873	0.44919	T	-0.0454477	0.67332	D	0.0584160102376698	0.06916	T	0.949605	0.80601	D	0.17035642	0.37606	0.3003873	0.56072	0.17035642	0.37606	0.3003873	0.56071	-4.747	0.33968	T	.	.	0.164	0.45714	B	.;.;.;.;.	.;.;.;.;.	2.966358	0.39520	21.0	0.98112769962384305	0.38367	0.97761	0.76941	D	AEFDBCI	0.668198	0.63606	D	-0.431587902675185	0.24369	1.315305	-0.287248628371244	0.28518	1.59069	0.648730314054577	0.22138	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	4.88	0.63131	5.192000	0.64953	6.698000	0.56362	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.1257:0.8743:0.0	17.248	0.86918	570	0.70478	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	728.33	33	chr3	15023341	.	G	A	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.85;DP=697;ExcessHet=0;FS=5.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.744;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	18	0	1	0
chr3	15074864	15074864	C	T	exonic	RBSN	.	nonsynonymous SNV	RBSN:NM_001302378:exon13:c.G1273A:p.G425R,RBSN:NM_022340:exon14:c.G1273A:p.G425R	.	426	1062	33	1	0	35	0.0162112	.	.	.	166150	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.195434023651	0.0036	0.00259585	0.0055	0.0007	0.0010	0	0.0070	0.0072	0.0067	0.0071	0.0052069	805	154602	rs144008665	0.0054	0.0054	0.0052	0.0056	0.0130	0.0053	0.0052	0.0106	0.0098	0.0005	0.0012	0.0003	7.557e-05	0.0074	0.0130	0.0057	0.0048	0.0076	0.0040	0.0040	0.0036	0.0045	0.0070	0.0038	0.0037	0.0055	0.0053	0.0008	0	0.0031	0.0003	0.0002	0.0077	0.0068	0.0060	0.0043	0.0070	0.028	0.46129	D	0.008	0.67890	D	0.979	0.59044	D	0.551	0.49270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.49	0.55775	T	-2.54	0.55025	D	0.736	0.79792	-0.7383	0.58540	T	0.169	0.50842	T	10	0.0075536966	0.00172	T	0.195434	0.86421	D	0.197	0.47942	0.322	0.30226	0.52891208781	0.52539	0.5606232059612715	0.55989	1.243952825	0.81618	0.664383888245	0.62036	T	0.090354	0.38568	T	-0.214009	0.18817	T	-0.0760405	0.65192	T	0.0545332893113079	0.06279	T	0.854215	0.54045	D	0.2833947	0.51372	0.25550038	0.51234	0.2833947	0.51372	0.25550038	0.51233	-4.542	0.31434	T	.	.	0.297	0.52945	B	.;.	.;.	4.122498	0.61634	24.4	0.99931917575123164	0.99439	0.98708	0.85845	D	AEFDBCI	0.896546	0.83774	D	0.584265364167002	0.72193	5.767207	0.609250153351065	0.75613	6.341222	0.999999996829047	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.563000	0.81293	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	20.049	0.97617	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.010101	0.001359	0.011696	0.000000	0.008621	0.009146	0.011364	0.05263	3064.83	39	chr3	15074864	.	C	T	3064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=866;ExcessHet=0.119;FS=2.554;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.24;SOR=0.899	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr3	15451673	15451673	C	T	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_080539:exon16:c.G1237A:p.D413N,COLQ:NM_005677:exon17:c.G1339A:p.D447N,COLQ:NM_080538:exon17:c.G1309A:p.D437N	Myasthenic syndrome, congenital, 5, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	631002	Congenital_myasthenic_syndrome_5|Inborn_genetic_diseases	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.783	0.613245393386	.	.	1.648e-05	0	8.639e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs770753693	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0001	8.94e-06	7.26e-06	4.907e-05	3.165e-05	0	6.708e-05	0	0.0001	0	0	6.295e-06	3.312e-05	3.478e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.92359	D	0.000000	0.84330	D	0.046027	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.52	0.60507	D	0.691	0.90476	1.012	0.97389	D	0.908	0.96949	D	10	0.83328635	0.82488	D	0.613245	0.96630	D	0.783	0.92787	.	.	0.982093447026	0.98190	0.7548930069117097	0.75436	0.0949871506179	0.10726	0.73571228981	0.72342	T	0.50555	0.82414	D	-0.0501656	0.44421	T	-0.0176871	0.69181	D	0.386661409556021	0.28437	T	0.934707	0.75876	D	0.62252843	0.73899	0.5722859	0.75229	0.62252843	0.73900	0.5722859	0.75229	-7.024	0.54209	T	0.6396002771396248	0.71011	0.223	0.47632	B	.;.;.;.	.;.;.;.	5.426590	0.90767	31	0.99888928951962375	0.96359	0.98669	0.85367	D	AEFI	0.879865	0.80610	D	0.828683388508142	0.87864	9.367681	0.806621333846898	0.90248	10.322	0.999999999998764	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.442000	0.79626	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.361	0.94428	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1143.33	34	chr3	15451673	.	C	T	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.772;DP=702;ExcessHet=0;FS=1.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.33;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	18	0	1	0
chr3	15596396	15596396	T	A	exonic	HACL1	.	nonsynonymous SNV	HACL1:NM_001284413:exon3:c.A215T:p.Y72F,HACL1:NM_001284415:exon3:c.A215T:p.Y72F,HACL1:NM_001284416:exon3:c.A215T:p.Y72F,HACL1:NM_012260:exon3:c.A215T:p.Y72F	.	442	1072	5	1	2	9	0.0032543	.	.	.	3216349	HACL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0363321832887	0.0003	0.00159744	0.0013	9.69e-05	8.676e-05	0	0	0.0006	0	0.0072	0.0011319	175	154602	rs146264180	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0065	0	0.0002	0	0	0.0002	0.0026	0.0003	0.0007	0.0071	0.0006	0.0006	0.0005	0.0006	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0011	0.0001	0	0	0	0.0068	0.0006	0.0009	0.0085	0.006	0.61437	D	0.16	0.52060	T	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	D	0.118819	1	0.81001	D	1.705	0.44259	L	1.41	0.45636	T	-3.54	0.71762	D	0.549	0.58798	-0.5932	0.65093	T	0.250	0.61981	T	10	0.013445586	0.00285	T	0.036332	0.56926	D	0.275	0.59130	.	.	0.502379540653	0.49875	0.6964501688370138	0.69586	0.383136898695	0.39647	0.589257359505	0.51388	T	0.411011	0.78403	T	-0.35242	0.04577	T	-0.275835	0.47229	T	0.092017065563697	0.11454	T	0.970203	0.96026	D	0.58209443	0.71722	0.53946155	0.73384	0.58209443	0.71723	0.53946155	0.73385	-5.869	0.58401	T	.	.	0.131	0.29394	B	.;.;.;.;.;.	.;.;.;.;.;.	3.519191	0.49320	22.8	0.98685702513880968	0.44681	0.96506	0.69479	D	AEFBI	0.489549	0.52741	N	0.568418093849482	0.71211	5.616418	0.586953807329364	0.74004	6.063891	0.99999513940917	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	4.008000	0.56815	4.885000	0.45705	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.020	0.71285	500	0.76024	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain;Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain;.;.;.;Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	637.33	33	chr3	15596396	.	T	A	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=-1.874;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,33:84:99:651,0,1185	18	0	1	0
chr3	16208561	16208561	C	G	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon4:c.C970G:p.P324A,GALNT15:NM_054110:exon4:c.C970G:p.P324A	.	431	1083	7	1	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0006	0.0123802	0.0107	0.0011	0.0593	0.0449	0.0110	0.0017	0.0121	0.0013	0.0098252	1519	154602	rs12634179	0.0041	0.0041	0.0043	0.0038	0.0516	0.0040	0.0039	0.0497	0.0490	0.0007	0.0478	3.826e-05	0.0516	0.0123	0.0007	0.0006	0.0048	0.0016	0.0052	0.0052	0.0046	0.0059	0.0438	0.0049	0.0048	0.0391	0.0373	0.0011	0	0.0187	0	0.0438	0.0143	0	0.0010	0.0038	0.0021	0.752	0.03565	T	0.973	0.02465	T	0.001	0.07471	B	0.002	0.06944	B	0.022706	0.26581	N	0.432927	0.965842	0.25920	N	0.005	0.07933	N	0.1	0.61326	T	-0.35	0.13418	N	0.065	0.03726	-1.0760	0.08144	T	0.012	0.04700	T	10	0.0016605556	0.00020	T	.	.	.	0.055	0.15663	.	.	.	.	0.28860886469581315	0.28773	0.0404014523321	0.04329	0.29603895545	0.09813	T	0.009071	0.08280	T	-0.559344	0.00256	T	-0.531445	0.19143	T	0.00155269134112455	0.00016	T	0.69713	0.30934	T	0.050854705	0.09251	0.054251224	0.09294	0.050854705	0.09251	0.054251224	0.09293	-3.833	0.21298	T	.	.	0.069	0.04723	B	.;.	.;.	1.912649	0.24293	16.34	0.66035963670175535	0.07943	0.82235	0.41494	D	AEFI	0.163355	0.28963	N	-0.678537185040102	0.16635	0.8492307	-0.455180163907077	0.23402	1.276024	0.996384545931478	0.34709	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	4.12	0.47504	3.266000	0.51272	3.499000	0.38765	0.520000	0.23804	0.980000	0.35271	0.999000	0.35428	0.990000	0.65344	0.0:0.8053:0.1276:0.0671	11.747	0.51093	883	0.28872	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1275.33	33	chr3	16208561	.	C	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=737;ExcessHet=0;FS=4.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.976;SOR=1.056	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr3	16227466	16227466	G	A	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319052:exon5:c.G476A:p.R159H,GALNT15:NM_054110:exon10:c.G1886A:p.R629H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00619977307506	.	.	3.296e-05	9.612e-05	8.657e-05	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs756197962	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	5.974e-05	2.236e-05	0	0	0	0.0003	8.094e-06	0	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.625	0.07316	T	0.004	0.12183	B	0.001	0.04355	B	0.828632	0.09123	N	0.922020	0.998355	0.29366	N	0.92	0.23413	L	1.53	0.30401	T	-0.69	0.19720	N	0.065	0.03726	-0.9519	0.40643	T	0.110	0.39604	T	10	0.041873336	0.02883	T	0.006	0.16259	T	0.021	0.04004	.	.	0.0920862733494	0.08535	0.16483035889546718	0.16403	0.0442287248236	0.04768	0.222121089697	0.01436	T	0.015787	0.13173	T	-0.383619	0.02956	T	-0.607291	0.12205	T	0.0409140959382057	0.03856	T	0.658834	0.26791	T	0.09096778	0.21301	0.07500923	0.16470	0.09096778	0.21301	0.07500923	0.16470	-4.702	0.33428	T	.	.	0.057	0.00533	B	.	.	-0.303947	0.02601	0.322	0.76446029193459586	0.11471	0.03425	0.08555	N	AEFI	0.085101	0.17251	N	-0.711117712967965	0.15709	0.7940276	-0.800127640681174	0.14492	0.7574852	0.00270084125270477	0.09639	0.623552	0.39893	0	0.547309	0.14657	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.4	0.574	0.16553	-0.546000	0.06152	-1.801000	0.04701	-0.113000	0.14837	0.004000	0.16614	0.000000	0.08366	0.099000	0.18236	0.4212:0.0:0.5788:0.0	7.947	0.29154	872	0.31118	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1107.33	37	chr3	16227466	.	G	A	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=774;ExcessHet=0;FS=7.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.08;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1037	18	0	1	0
chr3	16294937	16294937	A	T	exonic	OXNAD1	.	nonsynonymous SNV	OXNAD1:NM_001330670:exon6:c.A426T:p.R142S,OXNAD1:NM_001330671:exon6:c.A426T:p.R142S,OXNAD1:NM_001352977:exon6:c.A372T:p.R124S,OXNAD1:NM_001352978:exon6:c.A372T:p.R124S,OXNAD1:NM_138381:exon6:c.A372T:p.R124S,OXNAD1:NM_001352980:exon7:c.A291T:p.R97S,OXNAD1:NM_001352981:exon7:c.A291T:p.R97S,OXNAD1:NM_001352982:exon7:c.A291T:p.R97S,OXNAD1:NM_001352983:exon7:c.A291T:p.R97S	.	418	1103	1	0	0	1	0.000453104	.	.	.	2272932	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00241671552332	.	.	0.0001	0	0	0.0001	0	0	0	0.0009	0.0001035	16	154602	rs764566338	6.022e-05	6.156e-05	2.723e-05	9.354e-05	0.0009	4.963e-05	4.628e-05	0.0008	0.0007	0	6.715e-05	0	2.52e-05	0	0.0002	0	4.97e-05	0.0009	1.314e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0	0.0002	0.572	0.06145	T	0.754	0.04737	T	0.067	0.23653	B	0.009	0.14300	B	0.000000	0.84330	D	0.090873	0.996089	0.23119	N	0.52	0.13579	N	2.61	0.13095	T	0.23	0.04613	N	0.225	0.33578	-1.0028	0.29109	T	0.019	0.08033	T	10	0.022970736	0.00588	T	0.002417	0.04757	T	0.098	0.28162	0.576	0.70087	0.101711395817	0.09552	0.6918358670062897	0.69123	0.038674952326	0.04113	0.347437143326	0.17544	T	0.009712	0.08820	T	-0.5075	0.00519	T	-0.583548	0.14228	T	0.0155535317709466	0.00353	T	0.877412	0.59112	D	0.21078953	0.43385	0.111589745	0.26918	0.21078953	0.43385	0.111589745	0.26917	-4.704	0.33453	T	.	.	0.227	0.52801	B	.;.;.;.;.	.;.;.;.;.	1.705408	0.21718	15.32	0.92225717771724525	0.21600	0.07738	0.13738	N	AEFBI	0.104818	0.20962	N	-0.838937862109993	0.12323	0.5999876	-0.832796710499222	0.13702	0.7122295	0.999888717152083	0.44867	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.65	-3.14	0.04928	0.020000	0.13359	1.478000	0.26801	0.756000	0.94297	0.007000	0.17678	0.217000	0.23687	0.998000	0.85391	0.5334:0.0:0.3541:0.1125	6.958	0.23764	766	0.49742	FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	33	chr3	16294937	.	A	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.498;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.462;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr3	16302680	16302680	T	C	exonic	OXNAD1	.	nonsynonymous SNV	OXNAD1:NM_001330670:exon8:c.T770C:p.I257T,OXNAD1:NM_001330671:exon8:c.T770C:p.I257T,OXNAD1:NM_001352977:exon8:c.T716C:p.I239T,OXNAD1:NM_001352978:exon8:c.T716C:p.I239T,OXNAD1:NM_138381:exon8:c.T716C:p.I239T,OXNAD1:NM_001352980:exon9:c.T635C:p.I212T,OXNAD1:NM_001352981:exon9:c.T635C:p.I212T,OXNAD1:NM_001352982:exon9:c.T635C:p.I212T,OXNAD1:NM_001352983:exon9:c.T635C:p.I212T	.	.	.	.	.	.	.	.	.	.	.	2424863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00618456942732	0.0002	.	8e-05	0.0004	9.126e-05	0	0	4.86e-05	0	6.677e-05	5.82e-05	9	154602	rs144054197	3.353e-05	3.42e-05	3.405e-05	3.302e-05	0.0006	2.567e-05	2.313e-05	0.0004	0.0003	0.0006	0.0001	0	0	0	0.0002	1.439e-05	4.97e-05	4.641e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0003	0	0	0	0	0	0.0005	0	0.004	0.65419	D	0.064	0.44905	T	0.959	0.55135	D	0.696	0.54017	P	0.000004	0.62929	D	0.140101	0.999971	0.53665	D	2.43	0.70455	M	2.2	0.18570	T	-2.07	0.47344	N	0.745	0.75101	-1.0275	0.21266	T	0.125	0.42945	T	10	0.5855292	0.66088	D	0.006185	0.16200	T	0.240	0.54500	.	.	0.350088858571	0.34617	0.8042388786433923	0.80377	0.179236820395	0.20168	0.63987827301	0.58547	T	0.288236	0.66102	T	-0.19374	0.21710	T	-0.107418	0.62816	T	0.118139966837619	0.14247	T	0.904909	0.66542	D	0.35801238	0.57684	0.32677743	0.58582	0.35801238	0.57684	0.32677743	0.58581	-8.789	0.66329	D	.	.	0.381	0.61290	A	.;.;.;.;.	.;.;.;.;.	4.182338	0.62975	24.5	0.99860429977390852	0.93911	0.94709	0.62060	D	AEFDBHCIJ	0.620907	0.60579	D	0.623039573657516	0.74634	6.166138	0.6356912107024	0.77551	6.70089	0.999999999999953	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658105	0.52812	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.043000	0.64012	4.767000	0.44750	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.154	0.81460	714	0.56256	Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	792.33	33	chr3	16302680	.	T	C	792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.217;DP=706;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.142;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1361	18	0	1	0
chr3	16593675	16593675	A	T	exonic	DAZL	.	nonsynonymous SNV	DAZL:NM_001190811:exon9:c.T775A:p.S259T,DAZL:NM_001351:exon9:c.T715A:p.S239T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00359625195719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.841e-07	0	1.38e-06	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.269	0.22426	T	0.0	0.02946	B	0.002	0.06944	B	0.077251	0.21115	N	0.518653	0.706607	0.33475	D	1.31	0.32734	L	1.78	0.25678	T	-0.71	0.20145	N	0.328	0.37301	-1.0412	0.16951	T	0.056	0.23413	T	10	0.18374076	0.33716	T	0.003596	0.08216	T	0.033	0.08068	0.158	0.06178	0.424463159835	0.42065	0.13061702249137677	0.12986	0.19754653574	0.22128	0.465164154768	0.34018	T	0.135215	0.46690	T	-0.164784	0.26025	T	-0.474477	0.25035	T	0.460495289606075	0.31183	T	0.709529	0.32034	T	0.10514264	0.24859	0.07599481	0.16786	0.10514264	0.24858	0.07599481	0.16785	-3.824	0.21164	T	.	.	0.069	0.03026	B	.;.	.;.	2.060213	0.26197	17.03	0.93795450159623539	0.23762	0.90895	0.52464	D	AEFI	0.317043	0.42116	N	-0.113743469347474	0.36794	2.131639	0.0498336689608138	0.42064	2.537752	0.951158908263957	0.27939	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.82	4.67	0.58089	2.950000	0.48774	4.632000	0.44120	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9149:0.0:0.0851:0.0	9.360	0.37355	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	77.33	14	chr3	16593675	.	A	T	77.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.887;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.78;SOR=0.693	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,787	18	0	1	0
chr3	19456808	19456808	C	A	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon11:c.C1866A:p.D622E	.	.	.	.	.	.	.	.	.	.	.	2394120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0291930260323	0.0002	.	7.454e-05	9.671e-05	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs370658355	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	2.993e-05	0	3.834e-05	0	0	0	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.312e-05	0.0002	0.0001	0.0001	0	6.638e-05	0	0	0	0	0.0003	0	0	0.527	0.07093	T	0.445	0.13140	T	0.106	0.26037	B	0.123	0.32463	B	0.006029	0.32324	U	0.000000	0.999989	0.54805	D	0.85	0.21244	L	-4.09	0.96627	D	-1.27	0.31981	N	0.108	0.09349	0.062	0.83472	D	0.707	0.89907	D	9	0.13689443	0.26044	T	0.029193	0.51750	D	0.347	0.66863	0.453	0.51612	0.83933164562	0.83779	0.5141464190917435	0.51337	0.906771272957	0.70874	0.689732313156	0.65668	T	0.390099	0.75036	T	-0.195007	0.21528	T	-0.225742	0.52182	T	0.0440843515098095	0.04435	T	0.881012	0.60027	D	0.07973278	0.18231	0.07571912	0.16697	0.07973278	0.18231	0.07571912	0.16697	-3.451	0.15752	T	.	.	0.237	0.47128	B	.	.	2.565101	0.33231	19.28	0.94943798959183934	0.25843	0.91700	0.54078	D	AEFBI	0.490666	0.52805	N	-0.104227822526102	0.37208	2.161477	0.0858864505747462	0.43835	2.67731	2.07347416839392E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	4.48	0.53973	0.592000	0.23685	1.121000	0.24244	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.7623:0.0:0.2377	7.104	0.24533	752	0.51611	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1492.33	33	chr3	19456808	.	C	A	1492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.508;DP=762;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.284;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1219	18	0	1	0
chr3	19934017	19934017	A	G	exonic	EFHB	.	startloss	EFHB:NM_144715:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00208510187702	.	.	1.663e-05	0	0	0	0	0	0	9.183e-05	6.5e-06	1	154602	rs752578107	1.04e-05	1.026e-05	8.258e-06	1.257e-05	1.187e-05	6.24e-06	4.95e-06	6.58e-06	5.07e-06	0	0	0	0	0	0	1.18e-05	1.674e-05	1.187e-05	2.63e-05	2.627e-05	2.571e-05	2.693e-05	5.88e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.009	0.57480	D	0.055	0.46862	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-0.25	0.11008	N	0.154	0.15888	-0.9896	0.32702	T	0.026	0.11264	T	7	0.7163359	0.73370	D	0.002085	0.03828	T	0.132	0.35948	0.975	0.99766	0.337621943819	0.33374	0.03494500523616043	0.03441	.	.	.	.	.	5.04E-4	0.00188	T	-0.255594	0.13420	T	-0.497263	0.22632	T	0.0652627096321007	0.07970	T	0.9	0.65058	D	0.20606768	0.42769	0.25390738	0.51047	0.20606768	0.42769	0.25390738	0.51046	-8.462	0.64177	D	.	.	.	.	.	.	.	0.212666	0.05959	2.400	0.71189516632782479	0.09545	0.03865	0.09226	N	AEFBCI	0.014043	0.00209	N	-1.02812597129047	0.08023	0.3747725	-1.11800568608056	0.07356	0.3575036	0.999949024532734	0.47345	0.446893	0.09132	0	0.547309	0.14657	0	0.043771	0.00183	3	0.530356	0.10902	0	.	.	4.12	-1.22	0.09005	-0.356000	0.07711	0.135000	0.15097	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4104:0.1902:0.2154:0.184	0.374	0.00358	760	0.50470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1242.33	40	chr3	19934017	.	A	G	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-1.835;SOR=0.657	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1295	18	0	1	0
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W	.	428	1062	31	1	0	33	0.015299	.	.	.	3206732	KAT2B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.010101	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.02632	1045.33	35	chr3	20140317	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=716;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=1.25;SOR=0.845	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1154	18	0	1	0
chr3	21437104	21437104	C	T	exonic	ZNF385D	.	nonsynonymous SNV	ZNF385D:NM_024697:exon5:c.G539A:p.S180N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00373343153997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368223028	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.151	0.24564	T	0.473	0.12142	T	0.067	0.23653	B	0.025	0.20508	B	0.000939	0.41028	D	0.295113	0.995504	0.23274	N	1.445	0.36358	L	0.9	0.45248	T	-1.64	0.39314	N	0.157	0.16308	-1.0834	0.06702	T	0.055	0.23300	T	10	0.059945077	0.07287	T	0.003733	0.08651	T	0.095	0.27398	0.206	0.12216	0.0675242888579	0.06100	0.16545008298838498	0.16465	0.155848599088	0.17590	0.341601610184	0.16678	T	0.017983	0.14575	T	-0.296065	0.09037	T	-0.663053	0.08062	T	0.357240693623785	0.27301	T	0.773423	0.40508	T	0.1380006	0.31933	0.10554951	0.25375	0.1380006	0.31933	0.10554951	0.25375	-5.173	0.38666	T	.	.	0.064	0.01738	B	.	.	2.538526	0.32831	19.16	0.9900752354881861	0.50293	0.80468	0.40098	D	AEFBI	0.197360	0.32428	N	-0.120477289349581	0.36501	2.110752	0.0796650789789075	0.43527	2.652658	0.144451102301759	0.17333	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.631631	0.49550	0	.	.	6.09	4.22	0.49153	1.794000	0.38408	1.897000	0.29556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.1956:0.534:0.1249:0.1455	2.725	0.04888	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2427.33	34	chr3	21437104	.	C	T	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.942;DP=913;ExcessHet=0;FS=5.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.058;SOR=1.037	GT:AD:DP:GQ:PL	0/1:162,101:263:99:2441,0,4137	18	0	1	0
chr3	23967897	23967897	G	A	exonic	NR1D2	.	nonsynonymous SNV	NR1D2:NM_001145425:exon7:c.G1192A:p.D398N,NR1D2:NM_005126:exon7:c.G1417A:p.D473N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0417383593559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.43	0.13713	T	.	.	.	.	.	.	0.001654	0.38382	N	0.308537	0.983574	0.40032	D	.	.	.	-4.09	0.96627	D	-0.31	0.12099	N	0.592	0.61172	0.280	0.87228	D	0.759	0.91784	D	10	0.4581454	0.59118	T	0.041738	0.60088	D	0.330	0.65226	0.437	0.48993	0.660364553915	0.65752	0.30832656234520495	0.30745	0.200394867274	0.22444	0.689833581448	0.65682	T	.	.	.	0.0356233	0.56469	T	-0.186606	0.55907	T	0.736513614654541	0.42551	D	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.08997	B	.	.	3.745977	0.53668	23.4	0.99770295654834584	0.85834	0.96493	0.69413	D	AEFBI	0.541382	0.55756	D	-0.0513332134552327	0.39544	2.333598	0.193287952045334	0.49479	3.150519	0.999999997283264	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.673000	0.67781	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.352	0.98816	541	0.72942	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	636.33	33	chr3	23967897	.	G	A	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=671;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.36;SOR=1.15	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1236	18	0	1	0
chr3	25794369	25794369	G	C	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_017897:exon3:c.G1255C:p.E419Q,OXSM:NM_001145391:exon4:c.G1006C:p.E336Q	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0053234488548	0.0031	0.00239617	0.0041	0.0004	0.0064	0	0.0068	0.0054	0.0055	0.0005	0.0040685	629	154602	rs151328335	0.0037	0.0037	0.0037	0.0037	0.0046	0.0036	0.0036	0.0041	0.0039	0.0005	0.0046	0.0008	0	0.0096	0.0005	0.0039	0.0042	0.0004	0.0034	0.0034	0.0034	0.0034	0.0056	0.0031	0.0030	0.0047	0.0043	0.0007	0	0.0056	0.0012	0	0.0081	0	0.0043	0.0047	0.0008	0.087	0.32453	T	0.098	0.39040	T	0.009	0.25541	B	0.009	0.25551	B	0.000038	0.55875	D	0.158405	0.999952	0.52396	D	1.55	0.39271	L	.	.	.	-1.61	0.38734	N	0.178	0.23125	-0.9201	0.45540	T	0.125	0.42883	T	9	0.0075330734	0.00171	T	0.005323	0.13618	T	0.061	0.17616	.	.	0.446010312102	0.44222	0.7865000648753434	0.78602	0.0658031930893	0.07344	0.418930232525	0.27690	T	0.202306	0.56044	T	-0.491004	0.00642	T	-0.474065	0.25079	T	0.0167205965425796	0.00429	T	0.815518	0.59457	T	0.323841	0.54962	0.2105971	0.45453	0.323841	0.54962	0.2105971	0.45452	-4.752	0.35214	T	.	.	0.115	0.30842	B	.;.	.;.	2.796561	0.36774	20.3	0.98364029156886168	0.40678	0.95528	0.65080	D	AEFBI	0.570384	0.57479	D	-0.0648078191521985	0.38945	2.288758	0.0591855829400681	0.42518	2.573046	0.999989905225253	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.4	3.58	0.40133	4.746000	0.61828	8.197000	0.76799	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3417:0.6583:0.0	16.246	0.82265	594	0.68584	Polyketide synthase, beta-ketoacyl synthase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1638.33	33	chr3	25794369	.	G	C	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=755;ExcessHet=0;FS=6.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.85;SOR=1.262	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	0	1	0
chr3	26710325	26710325	T	G	exonic	LRRC3B	.	nonsynonymous SNV	LRRC3B:NM_001317808:exon2:c.T653G:p.I218S,LRRC3B:NM_001317809:exon2:c.T653G:p.I218S,LRRC3B:NM_052953:exon2:c.T653G:p.I218S,LRRC3B:NM_001317810:exon3:c.T653G:p.I218S,LRRC3B:NM_001317811:exon3:c.T653G:p.I218S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.116972802174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	-0.14	0.65006	T	-3.79	0.71639	D	0.861	0.85979	-0.1312	0.79373	T	0.421	0.76616	T	10	0.8551552	0.84708	D	0.116973	0.79662	D	0.565	0.82232	0.368	0.37687	0.960425676539	0.96000	0.9467039483456209	0.94653	2.5862836791	0.98110	0.901504278183	0.96606	D	0.243207	0.61209	T	0.326984	0.84956	D	0.231913	0.84760	D	0.992439270019531	0.82912	D	0.966503	0.87759	D	0.6736995	0.76631	0.696108	0.82106	0.6736995	0.76632	0.696108	0.82107	-12.282	0.86197	D	.	.	0.957	0.88195	P	.;.;.	.;.;.	5.154094	0.86338	28.9	0.99443006984839288	0.64870	0.98679	0.85488	D	AEFI	0.917618	0.88548	D	0.830725171691951	0.87985	9.411412	0.827486900633442	0.91635	10.98824	0.999974062396851	0.50053	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	8.017000	0.88732	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	15.770	0.77928	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1900.33	34	chr3	26710325	.	T	G	1900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.196;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	18	0	1	0
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S,NEK10:NM_199347:exon15:c.A1202G:p.N401S	.	433	1052	34	3	0	40	0.0186567	.	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.031722	0.015152	0.057065	0.046784	0.000000	0.025862	0.009146	0.003788	0.02632	1257.33	37	chr3	27297207	.	T	C	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.164;DP=711;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.182;SOR=0.985	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	18	0	1	0
chr3	27395109	27395109	G	A	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon18:c.C2326T:p.H776Y,SLC4A7:NM_001258380:exon18:c.C2311T:p.H771Y,SLC4A7:NM_001321107:exon18:c.C2326T:p.H776Y,SLC4A7:NM_001321108:exon18:c.C2338T:p.H780Y,SLC4A7:NM_001321103:exon19:c.C2710T:p.H904Y,SLC4A7:NM_001321104:exon19:c.C2671T:p.H891Y,SLC4A7:NM_001321105:exon19:c.C2671T:p.H891Y,SLC4A7:NM_001321106:exon19:c.C2659T:p.H887Y,SLC4A7:NM_003615:exon19:c.C2683T:p.H895Y	.	443	1065	14	0	0	14	0.00652985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0227623404329	0.0002	0.00179712	0.0013	0	8.953e-05	0	0	0.0007	0.0012	0.0078	0.0011449	177	154602	rs146857770	0.0007	0.0007	0.0004	0.0009	0.0066	0.0006	0.0006	0.0062	0.0060	9.733e-05	0.0007	0.0053	0	0	0.0040	0.0002	0.0011	0.0066	0.0005	0.0005	0.0004	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	7.216e-05	0	0.0004	0.0043	0	0	0	0.0003	0.0005	0.0060	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.026799	0.25861	N	0.448038	1	0.08975	N	-0.46	0.02758	N	-1.19	0.78427	T	-1.27	0.31981	N	0.058	0.09772	-0.9670	0.37814	T	0.119	0.41691	T	10	0.0047834218	0.00101	T	0.022762	0.45677	T	0.135	0.36572	.	.	0.043077524339	0.03247	0.5067648554276866	0.50598	0.334685067799	0.35479	0.322349965572	0.13777	T	0.138823	0.53302	T	-0.514765	0.00472	T	-0.509867	0.21330	T	0.00497517793744369	0.00054	T	0.837416	0.51077	T	0.031601924	0.03028	0.0328628	0.02089	0.031601924	0.03028	0.0328628	0.02089	-3.801	0.22723	T	.	.	0.104	0.25978	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.000205	0.13788	10.33	0.25054941583939572	0.01137	0.12567	0.17347	N	AEFGBI	0.090132	0.18265	N	-1.15779027031845	0.05653	0.2582603	-1.00131861558796	0.09756	0.4872611	0.169012847517651	0.17707	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.06	-0.612	0.11016	0.098000	0.15027	0.051000	0.14001	-0.227000	0.07798	0.001000	0.13787	0.731000	0.26417	0.851000	0.40252	0.1907:0.1851:0.4657:0.1585	3.137	0.06055	473	0.77910	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.;.;.;.;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002523	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	954.33	36	chr3	27395109	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.089;SOR=0.794	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr3	27431420	27431420	A	C	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001321103:exon7:c.T1028G:p.L343R,SLC4A7:NM_001321104:exon7:c.T989G:p.L330R,SLC4A7:NM_001321105:exon7:c.T989G:p.L330R,SLC4A7:NM_001321106:exon7:c.T977G:p.L326R,SLC4A7:NM_003615:exon7:c.T1001G:p.L334R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.055548583731	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs756654553	3.01e-05	3.01e-05	9.529e-06	5.088e-05	0.0005	2.282e-05	2.032e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	1.656e-05	0.0005	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.047	0.44029	D	0.121	0.35840	T	0.268	0.36838	B	0.459	0.49454	P	0.060416	0.22250	N	0.321128	1	0.81001	D	1.245	0.31408	L	-1.07	0.78199	T	-1.29	0.34198	N	0.719	0.78737	-0.4815	0.69313	T	0.304	0.67492	T	10	0.44699088	0.58459	T	0.055549	0.66274	D	0.263	0.57612	0.334	0.32167	0.508672771687	0.50506	0.5109642635321001	0.51018	0.976168458682	0.73573	0.531454563141	0.43239	T	0.144977	0.48187	T	-0.027542	0.47774	T	0.0286381	0.72189	D	0.307037272309366	0.25293	T	0.859414	0.61165	D	0.6254494	0.74054	0.5621983	0.74666	0.6254494	0.74056	0.5621983	0.74667	-3.285	0.14219	T	.	.	0.101	0.17657	B	.;.;.;.;.;.	.;.;.;.;.;.	2.147176	0.27346	17.43	0.996326907328006	0.76142	0.83856	0.42949	D	ALL	0.644884	0.62098	D	0.0853282114533462	0.45779	2.82879	0.254262637202392	0.52890	3.461093	0.999999999999999	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.723	0.93126	0	.	.	5.98	5.98	0.97147	2.587000	0.45793	3.185000	0.36675	0.691000	0.84096	0.985000	0.35982	0.975000	0.29991	0.998000	0.85391	0.9273:0.0:0.0727:0.0	10.498	0.43974	375	0.84013	Band 3 cytoplasmic domain;Band 3 cytoplasmic domain;.;.;.;Band 3 cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	37	chr3	27431420	.	A	C	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=757;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.694;SOR=0.536	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	30671754	30671754	G	A	exonic	TGFBR2	.	nonsynonymous SNV	TGFBR2:NM_003242:exon4:c.G571A:p.V191I,TGFBR2:NM_001024847:exon5:c.G646A:p.V216I	Colorectal cancer, hereditary nonpolyposis, type 6;Esophageal cancer, somatic;Loeys-Dietz syndrome 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	141338	Loeys-Dietz_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Loeys-Dietz_syndrome_2|Colorectal_cancer,_hereditary_nonpolyposis,_type_6|Malignant_tumor_of_esophagus|not_specified	MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:558|MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331,Orphanet:144|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	.	0.00399361	0.0016	0.0003	0.0003	0.0187	0	3e-05	0	0.0015	0.0014359	222	154602	rs56105708	0.0005	0.0005	0.0005	0.0006	0.0130	0.0005	0.0005	0.0121	0.0118	0.0001	8.944e-05	0.0003	0.0130	3.744e-05	0.0003	2.338e-05	0.0009	0.0017	0.0007	0.0007	0.0005	0.0009	0.0170	0.0006	0.0005	0.0141	0.0131	7.215e-05	0	6.536e-05	0	0.0170	0	0	1.47e-05	0	0.0023	0.454	0.12305	T	0.38	0.15988	T	0.001	0.07471	B	0.001	0.04355	B	0.013132	0.28942	N	0.392978	0.999998	0.08975	N	1.1	0.28011	L	-0.1	0.64264	T	-0.33	0.12472	N	0.06	0.05162	-1.0490	0.14677	T	0.073	0.29707	T	10	0.003921181	0.00075	T	.	.	.	0.044	0.11924	.	.	0.185906805712	0.18197	0.22926216477411798	0.22841	0.428904230715	0.43201	0.347205489874	0.17511	T	0.325929	0.69659	T	-0.525775	0.00407	T	-0.51308	0.20999	T	0.0120333356674731	0.00190	T	0.860314	0.55333	D	0.039510984	0.05469	0.03974742	0.04138	0.034988083	0.04031	0.040069323	0.04246	-3.595	0.17785	T	0.15669441868854578	0.18870	0.074	0.06341	B	.;.	.;.	2.766702	0.36307	20.2	0.96686468180010476	0.30719	0.66433	0.33076	D	AEFDBHCI	0.254604	0.37389	N	-0.457207383341804	0.23497	1.262205	-0.335011477060621	0.26977	1.493762	0.999998626796156	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.28	4.4	0.52402	2.222000	0.42568	5.235000	0.48044	0.674000	0.70861	0.981000	0.35396	1.000000	0.68203	0.422000	0.27272	0.2181:0.0:0.7819:0.0	8.881	0.34533	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1330.33	38	chr3	30671754	.	G	A	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=765;ExcessHet=0;FS=5.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=1.19;SOR=1.258	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	18	0	1	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.050000	0.000000	0.003067	0.007576	0.05263	733.81	36	chr3	30778259	.	C	T	733.81	.	AC=2;AF=0.053;AN=38;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.22;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	18	1	0	0
chr3	31533134	31533134	G	A	exonic	STT3B	.	nonsynonymous SNV	STT3B:NM_178862:exon1:c.G136A:p.G46S	.	415	1106	1	0	0	1	0.000451875	.	.	.	691371	STT3B-congenital_disorder_of_glycosylation	MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	.	0.00299521	0.0031	0	0	0.0424	0	0	0	0.0021	0.0004851	75	154602	rs527396203	0.0002	0.0003	0.0002	0.0002	0.0067	0.0002	0.0002	0.0059	0.0056	0	0	0	0.0067	0	0	1.67e-05	0.0006	0.0013	0.0004	0.0004	0.0004	0.0004	0.0106	0.0003	0.0003	0.0084	0.0076	0	0	6.573e-05	0	0.0106	0	0	2.953e-05	0	0.0008	0.446	0.09101	T	0.401	0.14961	T	0.84	0.46486	P	0.495	0.47504	P	.	.	.	.	0.884867	0.35827	D	0.805	0.20218	L	.	.	.	-0.06	0.07882	N	0.186	0.20262	-0.9886	0.32953	T	0.111	0.39841	T	8	0.0049657524	0.00106	T	.	.	.	0.093	0.26882	0.115	0.02372	0.221890330934	0.21812	0.48282286541460606	0.48202	0.842956260801	0.68156	0.896368026733	0.96027	D	0.081938	0.36712	T	-0.425162	0.01587	T	-0.373104	0.36526	T	0.142977323729141	0.16528	T	0.513749	0.16498	T	0.1301855	0.30385	0.2523996	0.50868	0.1301855	0.30384	0.2523996	0.50867	-4.16	0.26170	T	.	.	0.097	0.15921	B	.	.	2.556910	0.33103	19.24	0.98783640850043097	0.46175	0.74580	0.36487	D	ALL	0.247123	0.36776	N	-0.0746622136045438	0.38507	2.256334	-0.0260698863087299	0.38542	2.272179	0.999999999999981	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.47	3.47	0.38831	1.913000	0.39587	.	.	0.494000	0.22454	1.000000	0.71638	.	.	0.994000	0.71098	0.0:0.0:1.0:0.0	14.227	0.65410	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000543	0.000000	0.001433	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	714.33	14	chr3	31533134	.	G	A	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=403;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=-0.681;SOR=0.627	GT:AD:DP:GQ:PL	0/0:19,0:19:54:0,54,810	18	0	1	0
chr3	31664183	31664183	C	T	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon10:c.G1954A:p.A652T,OSBPL10:NM_017784:exon11:c.G2146A:p.A716T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0260352440518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010053434	8.213e-06	8.209e-06	9.533e-06	6.879e-06	1.16e-05	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.093e-06	3.316e-05	1.16e-05	6.578e-06	6.567e-06	0	1.347e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.246	0.17353	T	0.523	0.10354	T	0.888	0.48822	P	0.363	0.43280	B	0.000639	0.42799	D	0.262454	1	0.08975	N	0.375	0.12094	N	1.56	0.29602	T	-0.8	0.25551	N	0.117	0.14905	-0.9942	0.31512	T	0.088	0.33885	T	10	0.10366398	0.19069	T	0.026035	0.48976	D	0.066	0.19193	.	.	0.302793454619	0.29890	0.3681024778690525	0.36724	0.286984204698	0.31096	0.324022829533	0.14031	T	0.018076	0.14632	T	-0.245322	0.14678	T	-0.590165	0.13651	T	0.510048449039459	0.32999	D	0.910909	0.68443	D	0.03568189	0.04245	0.09238247	0.21768	0.03568189	0.04245	0.09238247	0.21768	-5.749	0.45281	T	.	.	0.086	0.10931	B	.;.	.;.	2.609937	0.33897	19.47	0.96776669874361276	0.31057	0.22456	0.21752	N	AEFDBCI	0.167043	0.29368	N	-0.627572839640279	0.18119	0.9381527	-0.674472140961651	0.17600	0.9365869	0.981940160359526	0.30331	0.706298	0.61202	0	0.759151	0.99529	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	2.33	0.27981	0.623000	0.24141	1.390000	0.26108	-0.218000	0.08083	0.003000	0.16062	0.760000	0.26617	0.853000	0.40368	0.5195:0.4805:0.0:0.0	14.712	0.68853	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	828.33	78	chr3	31664183	.	C	T	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=709;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.884;SOR=0.525	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	32357422	32357422	G	A	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_178868:exon2:c.G197A:p.R66Q	.	.	.	.	.	.	.	.	.	.	.	2280305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0170800628816	7.7e-05	0.000399361	0.0001	0	0.0005	0.0002	0	0.0001	0	0	0.00011	17	154602	rs149146364	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.974e-05	0.0005	0.0002	0.0004	0	0.0017	0.0001	0.0006	5.797e-05	0.0002	0.0002	0.0001	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	9.65e-05	0	0.0009	0.0006	0.0004	0	0	4.411e-05	0.0028	0.0002	0.304	0.14303	T	0.502	0.11115	T	0.984	0.60733	D	0.68	0.53472	P	0.057416	0.22483	N	0.450649	0.631771	0.81001	D	1.245	0.31408	L	1.84	0.24656	T	-1.03	0.27052	N	0.493	0.52651	-0.9853	0.33760	T	0.070	0.28544	T	10	0.11672652	0.22027	T	0.01708	0.38630	T	0.141	0.37795	.	.	0.158540857583	0.15491	0.38031876254145325	0.37946	0.455994801244	0.45262	0.435278356075	0.29931	T	0.008445	0.07757	T	-0.361335	0.04055	T	-0.409638	0.32268	T	0.0585384209615634	0.06937	T	0.930707	0.74322	D	0.10515697	0.24861	0.051112376	0.08161	0.10515697	0.24861	0.051112376	0.08160	-10.613	0.77494	D	.	.	0.123	0.25882	B	.	.	3.756481	0.53871	23.4	0.99591303159716127	0.73631	0.71163	0.34896	D	AEFBHCI	0.379709	0.46263	N	0.232993487452714	0.52803	3.452343	0.272637521721509	0.53947	3.561401	0.994329635110365	0.33586	0.732398	0.92422	0	0.59043	0.45803	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	6.08	5.2	0.71720	1.750000	0.37956	9.783000	0.81608	0.618000	0.50648	0.962000	0.33725	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.5808:0.4192	13.630	0.61662	946	0.12043	Marvel domain|Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	700.33	34	chr3	32357422	.	G	A	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=705;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.738;SOR=0.874	GT:AD:DP:GQ:PL	0/1:33,28:61:99:714,0,773	18	0	1	0
chr3	32873854	32873854	A	G	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon2:c.A889G:p.I297V	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	.	0.000798722	0.0018	0.0001	8.657e-05	0	0	1.516e-05	0	0.0148	0.0014618	226	154602	rs530720674	0.0008	0.0008	0.0004	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0	0	0	0	0	0.0009	2.88e-05	0.0007	0.0129	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	2.411e-05	0	0	0	0	0	0	0	0	0.0121	0.271	0.15984	T	0.358	0.17064	T	0.993	0.65571	D	0.987	0.77487	D	0.000001	0.62929	U	0.000000	1	0.81001	D	1.02	0.25474	L	0.96	0.42888	T	-0.57	0.17210	N	0.276	0.31253	-0.9559	0.39934	T	0.171	0.51197	T	10	0.015493184	0.00325	T	.	.	.	0.204	0.49076	0.564	0.68499	0.440933369655	0.43716	0.37916615449894325	0.37831	0.886304860184	0.70013	0.671640992165	0.63071	T	0.082684	0.36884	T	-0.377469	0.03232	T	-0.304597	0.44238	T	0.0950434490508009	0.11803	T	0.832517	0.50110	T	0.11061842	0.26145	0.081068866	0.18393	0.11061842	0.26144	0.081068866	0.18393	-4.924	0.36004	T	.	.	0.179	0.39029	B	.	.	2.447179	0.31507	18.76	0.99643338050678387	0.76819	0.96033	0.67230	D	AEFDGBHCI	0.688586	0.64953	D	0.479129773976413	0.65871	4.877484	0.515321809838017	0.69019	5.301078	1.0	0.98316	0.645754	0.44609	0	0.615948	0.52940	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	5.224000	0.65119	6.990000	0.57158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.778	0.69366	849	0.35778	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1496.33	37	chr3	32873854	.	A	G	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.919;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.15;SOR=0.661	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	33014213	33014213	C	T	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon12:c.G1184A:p.G395D,GLB1:NM_000404:exon15:c.G1577A:p.G526D,GLB1:NM_001079811:exon15:c.G1487A:p.G496D,GLB1:NM_001317040:exon16:c.G1721A:p.G574D	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	549547	not_provided|not_specified|Intellectual_disability|Mucopolysaccharidosis,_MPS-IV-B|GM1_gangliosidosis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582|MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.306	.	0.0033	0.00559105	0.0014	0.0142	0.0012	0	0	0.0002	0.0022	6.056e-05	0.0013454	208	154602	rs147332381	0.0005	0.0005	0.0005	0.0005	0.0142	0.0005	0.0005	0.0131	0.0127	0.0142	0.0011	0	0	0	0.0017	8.004e-05	0.0016	4.637e-05	0.0043	0.0044	0.0046	0.0040	0.0146	0.0041	0.0040	0.0136	0.0132	0.0146	0	0.0024	0	0	0	0	0.0002	0.0033	0.0002	0.516	0.16793	T	0.5	0.13066	T	0.002	0.09854	B	0.004	0.10090	B	0.907412	0.08577	N	0.955447	1	0.08975	N	.	.	.	-4.27	0.97172	D	-0.96	0.42575	N	0.093	0.10626	-0.0726	0.80720	T	0.683	0.89047	D	10	0.007707536	0.00175	T	.	.	.	0.306	0.62729	.	.	0.831870488214	0.83027	0.61000189406808	0.60932	0.308413385656	0.33155	0.224763512611	0.01603	T	.	.	.	-0.236177	0.15841	T	-0.0997048	0.63420	T	0.00359795940576702	0.00038	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.08948	B	.;.;.	.;.;.	0.147298	0.05401	1.878	0.43716210362941221	0.03310	0.10645	0.16093	N	AEFBI	0.295346	0.40548	N	-0.990815807878325	0.08799	0.4139605	-1.00218398060043	0.09737	0.4861903	0.66733488694449	0.22336	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	0.87	0.18239	-1.604000	0.02179	-3.481000	0.02754	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3728:0.2708:0.3564	5.114	0.14159	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005040	0.005051	0.009511	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1360.33	33	chr3	33014213	.	C	T	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.148;DP=758;ExcessHet=0;FS=3.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.933;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr3	33077148	33077148	-	TT	exonic	GLB1	.	frameshift insertion	GLB1:NM_001317040:exon2:c.164_165insAA:p.N56Rfs*64	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747738770	4.029e-05	4.104e-05	4.426e-05	3.62e-05	0.0012	3.129e-05	2.833e-05	0.0009	0.0008	0.0012	3.072e-05	0	0	0	0.0002	9.845e-07	0.0002	2.554e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1242.29	34	chr3	33077148	.	C	CTT	1242.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=739;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.959;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1252:.	18	0	1	0
chr3	33077150	33077150	-	TACCTCTTT	exonic	GLB1	.	nonframeshift insertion	GLB1:NM_001317040:exon2:c.162_163insAAAGAGGTA:p.A54_P55insKEV	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0018	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs769579539	4.095e-05	4.104e-05	4.566e-05	3.61e-05	0.0013	3.194e-05	2.897e-05	0.0009	0.0008	0.0013	3.06e-05	0	0	0	0.0002	9.825e-07	0.0002	2.549e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1284.29	34	chr3	33077150	.	G	GTACCTCTTT	1284.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=740;ExcessHet=0;FS=2.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.481;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1252:.	18	0	1	0
chr3	33114165	33114165	C	A	exonic	CRTAP	.	nonsynonymous SNV	CRTAP:NM_006371:exon1:c.C88A:p.R30S	Osteogenesis imperfecta, type VII, Autosomal recessive	1	1513	6	0	2	8	0.00197889	.	.	.	561384	Osteogenesis_imperfecta_type_7|not_provided	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.514404021768	.	.	0.0003	0	0	0	0	0.0002	0.0020	0.0012	0.0001552	24	154602	rs553076085	0.0001	0.0001	7.899e-05	0.0002	0.0013	0.0001	9.512e-05	0.0008	0.0007	0	2.285e-05	0	0	0	0.0013	6.323e-05	0.0002	0.0009	7.885e-05	7.875e-05	9e-05	6.72e-05	0.0008	4.497e-05	3.512e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	0.0001	0	0.0008	0.017	0.56456	D	0.322	0.19016	T	0.626	0.40074	P	0.3	0.43538	B	0.000003	0.62929	D	0.059868	0.99978	0.49076	D	2.25	0.63811	M	-0.96	0.75553	T	-0.9	0.24244	N	0.478	0.54234	-0.3022	0.74924	T	0.364	0.72498	T	10	0.14050329	0.26707	T	0.514404	0.95351	D	0.316	0.63799	0.369	0.37850	0.860281486465	0.85893	0.5639539647538084	0.56322	0.165905707828	0.18718	0.881907701492	0.94216	D	0.126983	0.45372	T	-0.227726	0.16951	T	-0.159081	0.58434	T	0.0846753445083178	0.10574	T	0.847215	0.52823	T	0.54783183	0.69835	0.37500122	0.62654	0.54783183	0.69836	0.37500122	0.62653	-4.084	0.25054	T	.	.	0.314	0.56363	B	.;.	.;.	4.851022	0.79284	27.1	0.99439033048274961	0.64670	0.77304	0.37993	D	ALL	0.499010	0.53288	N	0.135563686963298	0.48128	3.029165	0.164224251106483	0.47899	3.013452	0.999999999999996	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.28	4.28	0.50183	2.222000	0.42568	7.248000	0.57921	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	16.904	0.85990	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001535	0.000000	0.001359	0.000000	0.000000	0.008621	0.003125	0.003788	0.05263	1945.83	34	chr3	33114165	.	C	A	1945.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=777;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.046;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	17	0	2	0
chr3	33152939	33152939	C	A	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon5:c.G1693T:p.D565Y	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0131310852859	0.0023	0.000998403	0.0020	0.0003	0.0005	0	0.0008	0.0034	0.0011	6.07e-05	0.001934	299	154602	rs186544854	0.0028	0.0028	0.0029	0.0027	0.0057	0.0027	0.0027	0.0042	0.0037	0.0003	0.0008	0.0047	0	0.0004	0.0057	0.0033	0.0022	1.159e-05	0.0021	0.0021	0.0023	0.0018	0.0037	0.0019	0.0018	0.0033	0.0032	0.0005	0	0.0016	0.0035	0	0.0003	0	0.0037	0.0033	0	0.018	0.50676	D	0.006	0.70582	D	0.779	0.44223	P	0.246	0.38861	B	0.037449	0.24401	N	0.444709	0.739105	0.33802	D	1.95	0.52479	M	2.73	0.11839	T	-4.33	0.76740	D	0.206	0.22870	-1.0405	0.17162	T	0.025	0.10464	T	10	0.004412234	0.00090	T	0.013131	0.32289	T	0.099	0.28413	.	.	0.269558022972	0.26553	0.5650212336957493	0.56429	0.155211787068	0.17521	0.31748637557	0.13040	T	0.064438	0.32434	T	-0.468603	0.00867	T	-0.44673	0.28060	T	0.047360521584272	0.05030	T	0.693131	0.30283	T	0.12872684	0.30087	0.11174428	0.26957	0.12872684	0.30087	0.11174428	0.26956	-7.117	0.54882	T	.	.	0.118	0.24226	B	.	.	2.063045	0.26232	17.05	0.84300067506521981	0.15211	0.94681	0.61966	D	AEFDBI	0.213316	0.33891	N	-0.0290334162151889	0.40545	2.409572	-0.0605379399793659	0.37038	2.163279	0.999848575426657	0.43971	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	4.0	0.45673	2.934000	0.48649	3.376000	0.37968	0.596000	0.33519	0.998000	0.41325	0.847000	0.27355	0.001000	0.02609	0.0:0.7818:0.1427:0.0755	9.476	0.38034	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1917.33	39	chr3	33152939	.	C	A	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.376;DP=857;ExcessHet=0;FS=3.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.408;SOR=0.463	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr3	33174922	33174922	C	A	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon4:c.G562T:p.G188W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.163811248053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	0.39	0.57419	T	-8.0	0.96495	D	0.966	0.97643	-0.6012	0.64767	T	0.248	0.61704	T	10	0.86420625	0.85656	D	0.163811	0.84306	D	0.569	0.82460	0.519	0.62066	0.513503867364	0.50992	0.747838078414088	0.74729	0.330024752078	0.35094	0.819716572762	0.84985	D	0.269387	0.64158	T	0.309483	0.83706	D	0.206774	0.83493	D	0.99806934595108	0.93135	D	0.816718	0.47282	T	0.9073728	0.92051	0.83748525	0.90673	0.9073728	0.92052	0.83748525	0.90674	-11.44	0.82016	D	.	.	0.852	0.79889	P	.	.	5.386234	0.90253	31	0.99687816876882152	0.79708	0.98468	0.83094	D	AEFBI	0.908118	0.86301	D	0.68573921506326	0.78699	6.924291	0.724039056899851	0.84206	8.227349	0.999999999448096	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.597571	0.31856	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.206000	0.77400	7.537000	0.60015	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.067	0.89320	716	0.55970	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	43	chr3	33174922	.	C	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=876;ExcessHet=0;FS=4.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-1.302;SOR=1.175	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr3	33581928	33581928	G	A	exonic	CLASP2	.	nonsynonymous SNV	CLASP2:NM_001207044:exon17:c.C1541T:p.A514V,CLASP2:NM_001375715:exon17:c.C1541T:p.A514V,CLASP2:NM_001375716:exon17:c.C1562T:p.A521V,CLASP2:NM_001375718:exon17:c.C1559T:p.A520V,CLASP2:NM_001375720:exon17:c.C1541T:p.A514V,CLASP2:NM_001375713:exon20:c.C1901T:p.A634V,CLASP2:NM_001365630:exon21:c.C2198T:p.A733V,CLASP2:NM_001365633:exon21:c.C2201T:p.A734V,CLASP2:NM_001365634:exon21:c.C2198T:p.A733V,CLASP2:NM_001375703:exon21:c.C2201T:p.A734V,CLASP2:NM_001375705:exon21:c.C2198T:p.A733V,CLASP2:NM_001375697:exon22:c.C2216T:p.A739V,CLASP2:NM_001365627:exon23:c.C2240T:p.A747V,CLASP2:NM_001365628:exon23:c.C2243T:p.A748V,CLASP2:NM_001365629:exon23:c.C2240T:p.A747V,CLASP2:NM_001365631:exon23:c.C2240T:p.A747V,CLASP2:NM_001365632:exon23:c.C2240T:p.A747V,CLASP2:NM_001375694:exon23:c.C2240T:p.A747V,CLASP2:NM_001375701:exon23:c.C2243T:p.A748V,CLASP2:NM_015097:exon23:c.C2243T:p.A748V,CLASP2:NM_001375700:exon24:c.C2267T:p.A756V	.	.	.	.	.	.	.	.	0.9954	0.93	.	3948313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	.	8.2e-05	.	3.605e-05	0.0002	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs374516433	8.93e-06	8.894e-06	4.102e-06	1.38e-05	0.0002	4.98e-06	3.84e-06	0.0001	8.697e-05	0.0002	6.728e-05	0	0	0	0	0	3.323e-05	0	5.912e-05	5.909e-05	6.422e-05	5.378e-05	0.0002	3.077e-05	2.21e-05	0.0001	8.449e-05	0.0002	0	0	0	0	0	0	0	0	0	0.088	0.61437	T	0.026	0.59159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	.	.	.	2.09	0.20122	T	-2.03	0.47344	N	0.845	0.84090	-1.1333	0.01631	T	0.109	0.39368	T	10	0.27238107	0.44782	T	0.027223	0.50054	D	0.277	0.59375	.	.	0.413703809202	0.40986	.	.	0.561187484419	0.52626	0.819673001766	0.84978	D	0.02298	0.22347	T	-0.11009	0.34752	T	-0.159244	0.58420	T	0.203284895717734	0.20596	T	0.963704	0.93196	D	.	.	.	.	.	.	.	.	-5.189	0.38830	T	.	.	0.272	0.56812	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.070435	0.84568	28.3	0.99888445776513657	0.96281	0.99781	0.99420	D	AEFDBI	0.925154	0.90426	D	0.705099201152979	0.79966	7.190994	0.773274302326348	0.87883	9.378036	0.999999999999999	0.74766	0.741868	0.97996	0	0.653731	0.59785	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.602000	0.97623	11.838000	0.97738	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.432	0.99087	308	0.87611	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	34	chr3	33581928	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.181;DP=702;ExcessHet=0;FS=3.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.055;SOR=0.342	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1409	18	0	1	0
chr3	33826615	33826615	T	G	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001256192:exon6:c.T752G:p.L251W	.	459	1043	16	4	0	24	0.0113744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00738818	0.0063	0.0007	0.0026	0	0.0008	0.0048	0.0064	0.0232	0.0050452	780	154602	rs111356602	0.0047	0.0048	0.0043	0.0051	0.0185	0.0046	0.0046	0.0177	0.0174	0.0005	0.0029	0.0139	7.589e-05	0.0007	0.0049	0.0039	0.0050	0.0185	0.0039	0.0039	0.0039	0.0039	0.0226	0.0036	0.0035	0.0191	0.0179	0.0008	0.0033	0.0038	0.0159	0	0.0008	0	0.0047	0.0019	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3890.77	37	chr3	33826615	.	T	G	3890.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.259;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.965;SOR=0.637	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1495	17	1	1	0
chr3	36484993	36484993	G	A	exonic	STAC	.	nonsynonymous SNV	STAC:NM_003149:exon4:c.G506A:p.R169H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.130297546564	7.7e-05	.	0.0001	0	0.0006	0	0	6.022e-05	0	0.0001	8.41e-05	13	154602	rs141427741	5.246e-05	5.609e-05	5.217e-05	5.275e-05	0.0005	4.296e-05	3.923e-05	0.0003	0.0003	3.034e-05	0.0005	0	7.778e-05	0	0	4.069e-05	3.341e-05	5.965e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.546e-05	0	0.0002	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.61	0.82254	D	-3.59	0.69236	D	0.858	0.85449	0.472	0.90148	D	0.706	0.89900	D	10	0.8127971	0.80547	D	0.130298	0.81244	D	0.745	0.91198	.	.	0.973440577398	0.97315	0.7018556303686895	0.70126	0.812905501583	0.66818	0.81127178669	0.83687	D	0.264907	0.63673	T	0.0366554	0.56605	T	0.171254	0.81485	D	0.703519761562347	0.40887	D	0.975802	0.91539	D	0.7367697	0.80108	0.62072617	0.77906	0.7367697	0.80109	0.62072617	0.77907	-9.372	0.70060	D	.	.	0.938	0.85713	P	.	.	6.139017	0.94649	34	0.99925168063808545	0.99042	0.98909	0.88484	D	AEFBI	0.892233	0.82897	D	0.908763230824967	0.92182	11.27881	0.902025890957601	0.95660	13.83877	0.999999866502651	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.66	5.66	0.87293	9.602000	0.97623	11.645000	0.93827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.916	0.92479	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1133.33	36	chr3	36484993	.	G	A	1133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=760;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.003;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	36738589	36738589	C	T	exonic	DCLK3	.	nonsynonymous SNV	DCLK3:NM_033403:exon2:c.G71A:p.R24Q	.	428	1086	7	1	0	9	0.00412655	.	.	.	2827245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0070	0.00359425	0.0066	0.0024	0.0024	0.0001	0.0070	0.0090	0.0064	0.0054	0.0064488	997	154602	rs56070233	0.0096	0.0091	0.0097	0.0096	0.0107	0.0095	0.0094	0.0106	0.0105	0.0015	0.0037	0.0010	0	0.0094	0.0020	0.0107	0.0081	0.0055	0.0059	0.0059	0.0060	0.0057	0.0096	0.0056	0.0054	0.0090	0.0087	0.0016	0.0055	0.0054	0.0020	0.0002	0.0048	0	0.0096	0.0043	0.0050	0.017	0.51248	D	0.244	0.24123	T	0.983	0.60381	D	0.462	0.46509	P	.	.	.	.	0.917694	0.27366	N	2.535	0.73915	M	-0.41	0.69413	T	-0.68	0.19509	N	0.153	0.15749	-0.8260	0.53556	T	0.158	0.49178	T	9	0.006421715	0.00145	T	.	.	.	0.143	0.38195	.	.	0.825670268879	0.82401	0.07007910054653656	0.06944	0.267279357033	0.29270	0.345959246159	0.17325	T	0.018212	0.14721	T	-0.400386	0.02302	T	-0.337515	0.40627	T	0.0289347017189896	0.01827	T	0.842916	0.51943	T	0.115766086	0.27314	0.10042387	0.24010	0.115766086	0.27314	0.10042387	0.24009	-3.604	0.17915	T	.	.	0.102	0.26794	B	.;.	.;.	3.204664	0.43592	21.8	0.99949025522606161	0.99931	0.37581	0.25794	N	AEFBI	0.300269	0.40910	N	0.0806295534046454	0.45559	2.810481	0.0808397725441146	0.43586	2.657267	0.063287727864441	0.15290	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.22	5.22	0.72285	0.214000	0.17331	1.423000	0.26381	0.599000	0.40250	0.099000	0.22773	0.797000	0.26915	0.897000	0.43391	0.2189:0.7811:0.0:0.0	11.900	0.51956	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	1715.33	43	chr3	36738589	.	C	T	1715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=801;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1729,0,1332	18	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V,TRANK1:NM_001329998:exon23:c.A8740G:p.I2914V	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.006793	0.005848	0.000000	0.017241	0.015244	0.026515	0.05263	3063.83	40	chr3	36829633	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.34;DP=874;ExcessHet=0.119;FS=1.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.15;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	17	0	2	0
chr3	36855829	36855829	T	A	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon12:c.A3761T:p.D1254V,TRANK1:NM_001329998:exon13:c.A3893T:p.D1298V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0355212713509	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451794716	4.789e-06	4.788e-06	4.084e-06	5.501e-06	0.0002	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.005	0.72224	D	0.994	0.66517	D	0.892	0.63276	P	0.005074	0.33125	N	0.207319	1	0.81001	D	2.22	0.62911	M	1.79	0.25509	T	-4.35	0.76900	D	0.379	0.42050	-0.8488	0.52051	T	0.175	0.51943	T	10	0.3843604	0.54430	T	0.035521	0.56396	D	0.191	0.46948	0.269	0.21735	0.350088858571	0.34617	0.7008997828665912	0.70030	0.795883944927	0.66040	0.363862842321	0.19947	T	0.191305	0.54610	T	0.0530297	0.58733	T	-0.161603	0.58208	T	0.979156613349915	0.72686	D	0.827917	0.49191	T	0.34050098	0.56319	0.2535628	0.51006	0.34050098	0.56319	0.2535628	0.51005	-4.581	0.31932	T	.	.	0.113	0.22135	B	.;.	.;.	3.524269	0.49411	22.8	0.99187127518337026	0.54877	0.95096	0.63423	D	AEFDBI	0.496734	0.53155	N	0.442761916498591	0.63792	4.620062	0.391475809054239	0.61040	4.298563	0.999762911148182	0.42728	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	5.45	0.79688	4.479000	0.59970	6.058000	0.53147	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:0.0:1.0	15.828	0.78506	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2338.33	207	chr3	36855829	.	T	A	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=1646;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.336;SOR=0.716	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr3	37025815	37025815	G	A	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354625:exon9:c.G143A:p.S48N,MLH1:NM_001354621:exon10:c.G194A:p.S65N,MLH1:NM_001354623:exon10:c.G194A:p.S65N,MLH1:NM_001354624:exon10:c.G143A:p.S48N,MLH1:NM_001354626:exon10:c.G143A:p.S48N,MLH1:NM_001354627:exon10:c.G143A:p.S48N,MLH1:NM_001167619:exon11:c.G494A:p.S165N,MLH1:NM_001258273:exon11:c.G494A:p.S165N,MLH1:NM_001354615:exon11:c.G494A:p.S165N,MLH1:NM_001354616:exon11:c.G494A:p.S165N,MLH1:NM_001354622:exon11:c.G194A:p.S65N,MLH1:NM_001354629:exon11:c.G1118A:p.S373N,MLH1:NM_000249:exon12:c.G1217A:p.S406N,MLH1:NM_001167617:exon12:c.G923A:p.S308N,MLH1:NM_001167618:exon12:c.G494A:p.S165N,MLH1:NM_001258271:exon12:c.G1217A:p.S406N,MLH1:NM_001354617:exon12:c.G494A:p.S165N,MLH1:NM_001354618:exon12:c.G494A:p.S165N,MLH1:NM_001354620:exon12:c.G923A:p.S308N,MLH1:NM_001354628:exon12:c.G1217A:p.S406N,MLH1:NM_001354630:exon12:c.G1217A:p.S406N,MLH1:NM_001258274:exon13:c.G494A:p.S165N,MLH1:NM_001354619:exon13:c.G494A:p.S165N	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	YES	50073	Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Carcinoma_of_colon|not_provided|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Mismatch_repair_cancer_syndrome_1|Muir-Torré_syndrome|not_specified|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MedGen:CN169374|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.024	0.0136817591132	0.0014	0.000399361	0.0009	0.0003	0.0021	0	0	0.0012	0.0022	0.0003	0.0009185	142	154602	rs41294980	0.0011	0.0011	0.0010	0.0011	0.0014	0.0010	0.0010	0.0012	0.0012	0.0001	0.0013	0.0005	0	7.488e-05	0.0014	0.0012	0.0011	0.0003	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0003	0	0	0	0.0014	0.0033	0.0004	0.255	0.16848	T	0.525	0.11515	T	0.384	0.34453	B	0.081	0.28987	B	0.176831	0.03153	N	1.598200	1	0.08975	N	1.455	0.36767	L	-2.48	0.89071	D	0.46	0.04861	N	0.31	0.34981	-1.0320	0.19809	T	0.053	0.22384	T	10	0.01582715	0.00332	T	0.013682	0.33266	T	0.385	0.70194	.	.	0.854821475468	0.85342	0.19107657347908633	0.19025	0.0717791696343	0.08041	0.278761684895	0.07321	T	0.274235	0.64672	T	-0.256289	0.13338	T	-0.148182	0.59404	T	0.0049494812678473	0.00053	T	0.505949	0.15996	T	0.025862552	0.01572	0.04823017	0.07119	0.023537483	0.01101	0.05277425	0.08760	-5.255	0.39496	T	0.14108107689935998	0.15841	0.079	0.07460	B	.;.;.;.;.;.	.;.;.;.;.;.	1.526935	0.19596	14.34	0.95398342299662342	0.26846	0.27255	0.23226	N	AEFDBHCI	0.132692	0.25209	N	-0.371049334449799	0.26506	1.447101	-0.407736037891218	0.24770	1.358293	0.99999777704043	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	2.94	0.33188	2.951000	0.48782	1.918000	0.29691	0.676000	0.76740	0.178000	0.24038	0.011000	0.20116	0.607000	0.31564	0.1564:0.1391:0.5612:0.1433	3.022	0.05709	200	0.92234	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5142.33	39	chr3	37025815	.	G	A	5142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=1107;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.068;SOR=0.596	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr3	37054509	37054509	G	A	exonic	LRRFIP2	.	nonsynonymous SNV	LRRFIP2:NM_001348311:exon13:c.C994T:p.R332W,LRRFIP2:NM_017724:exon13:c.C994T:p.R332W,LRRFIP2:NM_001134369:exon14:c.C1066T:p.R356W,LRRFIP2:NM_001348308:exon14:c.C1096T:p.R366W,LRRFIP2:NM_001348309:exon14:c.C1096T:p.R366W,LRRFIP2:NM_001348310:exon14:c.C1066T:p.R356W,LRRFIP2:NM_001348304:exon15:c.C1189T:p.R397W,LRRFIP2:NM_001348305:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348306:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348307:exon15:c.C1168T:p.R390W,LRRFIP2:NM_001348301:exon16:c.C1261T:p.R421W,LRRFIP2:NM_001348302:exon16:c.C1261T:p.R421W,LRRFIP2:NM_001348303:exon16:c.C1198T:p.R400W,LRRFIP2:NM_001348299:exon17:c.C1270T:p.R424W,LRRFIP2:NM_001348300:exon17:c.C1270T:p.R424W,LRRFIP2:NM_001282691:exon18:c.C1303T:p.R435W,LRRFIP2:NM_001348298:exon21:c.C1444T:p.R482W,LRRFIP2:NM_001348297:exon23:c.C1654T:p.R552W,LRRFIP2:NM_006309:exon27:c.C1957T:p.R653W	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.101082738309	0.0010	0.000199681	0.0007	0.0004	8.64e-05	0	0.0002	0.0011	0.0011	0.0002	0.0007503	116	154602	rs149817415	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0001	0.0002	0.0003	0	0.0003	0	0.0010	0.0007	0.0005	0.0009	0.0009	0.0010	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0003	0	0.0001	0	0.0002	0.0004	0.0034	0.0016	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.046962	1	0.81001	D	2.8	0.81625	M	-1.7	0.83072	D	-7.0	0.94729	D	0.949	0.98466	0.569	0.91494	D	0.720	0.90404	D	10	0.5233386	0.62768	D	0.101083	0.77376	D	0.645	0.86536	.	.	0.94844368393	0.94789	0.5872269579126616	0.58652	.	.	0.662067532539	0.61705	T	0.525929	0.83506	D	0.10572	0.64903	D	0.333531	0.89655	D	0.204763827304367	0.20676	T	0.998211	0.99160	D	0.80054486	0.83940	0.7337418	0.84265	0.80054486	0.83942	0.7337418	0.84266	-16.601	0.98530	D	.	.	0.844	0.83274	P	.;.;.;.;.	.;.;.;.;.	5.785222	0.93543	33	0.99923967003842185	0.98917	0.34959	0.25190	N	ALL	0.760030	0.69818	D	0.710946562022752	0.80351	7.274895	0.647847256227456	0.78450	6.87878	0.999999999942487	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.18	4.23	0.49319	1.724000	0.37685	8.282000	0.76904	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.7769:0.2231	15.169	0.72540	154	0.93967	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1176.33	34	chr3	37054509	.	G	A	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=748;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.471;SOR=0.45	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr3	37324636	37324636	G	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon14:c.G2750T:p.R917I,GOLGA4:NM_001172713:exon15:c.G2816T:p.R939I	.	.	.	.	.	.	.	.	.	.	.	2202253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0239467717682	.	.	4.214e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs770506566	3.355e-05	3.42e-05	1.499e-05	5.23e-05	0.0005	2.568e-05	2.314e-05	0.0004	0.0004	0	0	0	0	0	0	2.7e-06	1.657e-05	0.0005	3.285e-05	3.281e-05	1.285e-05	5.377e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0.0034	0	0	0.0008	0.003	0.72154	D	0.022	0.67890	D	0.498	0.37115	P	0.216	0.37572	B	0.004231	0.33968	N	0.000000	0.946117	0.81001	D	2.28	0.64929	M	1.86	0.24472	T	-3.0	0.74504	D	0.409	0.44952	-1.0990	0.04214	T	0.048	0.20355	T	10	0.09321493	0.16477	T	0.023947	0.46930	T	0.075	0.21907	0.316	0.29258	0.36076525451	0.35686	0.03921464561633683	0.03867	0.245424699257	0.27071	0.281022787094	0.07634	T	0.07847	0.42369	T	-0.309883	0.07758	T	-0.372384	0.36609	T	0.280240075798357	0.24182	T	0.943606	0.78679	D	0.13755943	0.31846	0.21701416	0.46350	0.13755943	0.31846	0.21701416	0.46349	-4.021	0.24117	T	.	.	0.160	0.35705	B	.;.;.;.	.;.;.;.	1.366996	0.17764	13.36	0.96853825041790009	0.31354	0.88247	0.48090	D	AEFBI	0.640497	0.61817	D	-0.492674067845463	0.22320	1.191013	-0.477696430446102	0.22769	1.238367	0.999404204629053	0.39524	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.05	-0.687	0.10751	1.420000	0.34411	0.770000	0.21388	-0.758000	0.03527	1.000000	0.71638	0.998000	0.33993	0.926000	0.46234	0.5975:0.179:0.2235:0.0	5.038	0.13783	229	0.91079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1363.33	35	chr3	37324636	.	G	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=745;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.953;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr3	38007777	38007777	T	C	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon15:c.A2330G:p.D777G,PLCD1:NM_006225:exon15:c.A2267G:p.D756G	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0669384462643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	0.996	0.68779	D	0.871	0.61869	P	0.000130	0.49741	D	0.203076	0.999939	0.51612	D	2.495	0.72670	M	1.78	0.25678	T	-3.37	0.68764	D	0.352	0.39659	-0.8428	0.52460	T	0.146	0.46967	T	10	0.3048461	0.48006	T	0.066938	0.70022	D	0.250	0.55888	0.431	0.48007	0.627195870872	0.62415	0.49758987617443856	0.49679	0.807291587251	0.66545	0.566183447838	0.48139	T	0.685537	0.90808	D	0.021851	0.54632	T	-0.206389	0.54039	T	0.985782146453857	0.76677	D	0.814719	0.46890	T	0.24314588	0.47250	0.23882036	0.49215	0.24314588	0.47250	0.23882036	0.49214	-6.15	0.47517	T	.	.	0.142	0.34427	B	.;.	.;.	4.152734	0.62308	24.4	0.99745181061800858	0.83852	0.95889	0.66590	D	AEFDBCI	0.506348	0.53711	D	0.601853758696996	0.73291	5.942306	0.561011747386206	0.72167	5.767304	0.99999998650527	0.74766	0.732398	0.92422	0	0.694456	0.67091	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	5.284000	0.65431	4.231000	0.42652	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0811:0.0:0.9189	10.033	0.41282	580	0.69689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1119.33	33	chr3	38007777	.	T	C	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-2.073;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	18	0	1	0
chr3	38009974	38009974	T	G	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon8:c.A1280C:p.H427P,PLCD1:NM_006225:exon8:c.A1217C:p.H406P	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	3470864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0197469712698	0.0003	.	0.0002	0.0002	8.906e-05	0	0	0.0002	0.0036	0.0006	0.0001876	29	154602	rs140647901	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0006	0.0005	8.961e-05	0.0003	0	0	0	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.712e-05	0.0003	0.0002	4.811e-05	0	0.0004	0	0	0	0	0.0002	0	0.0008	0.152	0.24468	T	0.258	0.23231	T	0.021	0.18474	B	0.049	0.25116	B	0.274165	0.15069	N	0.693413	1	0.08975	N	1.895	0.50365	L	-0.01	0.62762	T	-1.27	0.35597	N	0.283	0.32037	-0.9604	0.39106	T	0.140	0.45997	T	10	0.041179866	0.02750	T	0.019747	0.42191	T	0.079	0.23065	.	.	0.588622743037	0.58537	0.7668173869665917	0.76630	0.349500434729	0.36803	0.252739071846	0.04061	T	0.228822	0.59448	T	-0.337277	0.05578	T	-0.354659	0.38670	T	0.00804982851469434	0.00095	T	0.882612	0.60317	D	0.51910573	0.68208	0.2562887	0.51326	0.51910573	0.68209	0.2562887	0.51325	-9.127	0.70616	D	0.36808649656872655	0.46389	0.279	0.54897	B	.;.	.;.	0.230731	0.06121	2.565	0.6040298910818257	0.06455	0.12630	0.17385	N	AEFDBCI	0.114769	0.22594	N	-1.0660771257315	0.07276	0.3374992	-1.08956448636001	0.07904	0.386416	0.999947977805295	0.47345	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.92	1.03	0.19161	-0.252000	0.08825	-0.509000	0.08757	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3362:0.1644:0.4993	5.280	0.14982	573	0.70213	.;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1313.33	40	chr3	38009974	.	T	G	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=796;ExcessHet=0;FS=2.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.064;SOR=1.032	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr3	38120523	38120523	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon34:c.G4789A:p.V1597M,DLEC1:NM_007335:exon34:c.G4780A:p.V1594M,DLEC1:NM_007337:exon34:c.G4780A:p.V1594M	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0404350498867	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001423	22	154602	rs577919194	5.336e-05	5.336e-05	2.178e-05	8.525e-05	0.0009	4.344e-05	4.017e-05	0.0007	0.0007	0	0	0	0	0	0	8.993e-07	3.311e-05	0.0009	4.595e-05	4.593e-05	1.285e-05	8.053e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.986	0.76916	D	0.000158	0.49130	D	0.080319	0.988034	0.40692	D	2.78	0.81115	M	0.19	0.60236	T	-1.55	0.38924	N	0.156	0.16168	-0.3011	0.74955	T	0.354	0.71743	T	10	0.027414978	0.00888	T	0.040435	0.59376	D	0.183	0.45592	.	.	0.702187695337	0.69960	0.31824630668429765	0.31737	0.522871762998	0.50003	0.425403207541	0.28580	T	0.083478	0.37062	T	-0.233022	0.16250	T	-0.185484	0.56012	T	0.790798008441925	0.45742	D	0.837116	0.52040	T	0.16061541	0.36015	0.2759728	0.53538	0.16061541	0.36014	0.2759728	0.53537	-4.948	0.36270	T	.	.	0.130	0.27880	B	.;.	.;.	3.884535	0.56480	23.7	0.99883790878076428	0.95970	0.83922	0.43012	D	AEFBCI	0.382787	0.46454	N	0.643870616740781	0.75972	6.401488	0.595209376272867	0.74593	6.163932	0.947360421965286	0.27749	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	2.702000	0.46770	6.510000	0.55805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.1352:0.7068:0.1579	10.285	0.42742	553	0.71930	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2289.81	33	chr3	38120523	.	G	A	2289.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.8;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	1	0	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.05263	3944.81	36	chr3	38122376	.	C	T	3944.81	.	AC=2;AF=0.053;AN=38;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.6;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	18	1	0	0
chr3	38126510	38126510	C	T	exonic	ACAA1	.	nonsynonymous SNV	ACAA1:NM_001130410:exon7:c.G718A:p.G240R,ACAA1:NM_001607:exon8:c.G817A:p.G273R	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.915	0.311249327291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-3.25	0.96243	D	-7.23	0.95131	D	0.969	0.97961	1.038	0.97869	D	0.913	0.97106	D	10	0.9718852	0.96815	D	0.311249	0.91192	D	0.967	0.99571	0.919	0.98532	0.9658348867	0.96546	0.96655591358103	0.96643	1.23110400944	0.81337	0.783590376377	0.79470	T	0.866347	0.97076	D	0.529293	0.95157	D	0.522516	0.95085	D	0.990754663944244	0.80985	D	0.989912	0.96822	D	0.9821175	0.99268	0.96789396	0.99370	0.9821175	0.99268	0.96789396	0.99371	-11.884	0.84281	D	.	.	0.975	0.90188	P	.;.;.	.;.;.	7.107172	0.96149	35	0.9992506800356612	0.99042	0.94701	0.62033	D	AEFDBCI	0.973003	0.99465	D	0.930941201293935	0.93192	11.87919	0.867294275545993	0.93986	12.42063	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.981000	0.70207	4.707000	0.44438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.063	0.93081	553	0.71930	Thiolase, N-terminal;.;Thiolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	33	chr3	38126510	.	C	T	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=726;ExcessHet=0;FS=10.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.175;SOR=0.464	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	38183042	38183042	C	A	exonic	OXSR1	.	nonsynonymous SNV	OXSR1:NM_005109:exon2:c.C110A:p.A37D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0153384844865	0.0008	.	0.0007	9.619e-05	8.678e-05	0	0.0002	0.0012	0.0011	0.0004	0.000718	111	154602	rs138580801	0.0008	0.0008	0.0008	0.0008	0.0023	0.0008	0.0008	0.0013	0.0011	2.992e-05	0.0001	0.0005	0	0.0002	0.0023	0.0010	0.0007	0.0003	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	9.627e-05	0	0.0006	0.0003	0	9.446e-05	0.0034	0.0010	0.0005	0.0004	0.021	0.49117	D	0.196	0.30828	T	0.051	0.22415	B	0.081	0.28987	B	0.033968	0.24830	N	0.471165	0.797225	0.34464	D	0.72	0.18721	N	-0.17	0.65563	T	-1.14	0.30762	N	0.345	0.38848	-0.8982	0.48175	T	0.122	0.42357	T	10	0.027602464	0.00904	T	0.015338	0.36015	T	0.044	0.11924	.	.	0.240615537116	0.23683	0.9199792867116431	0.91973	1.1158116496	0.78167	0.512913405895	0.40630	T	0.108863	0.42226	T	-0.461182	0.00966	T	-0.441709	0.28617	T	0.0169867311479199	0.00448	T	0.946205	0.79443	D	0.52729577	0.68677	0.3425057	0.59976	0.52729577	0.68678	0.3425057	0.59975	-7.251	0.55847	T	.	.	0.223	0.49499	B	.;.	.;.	1.764027	0.22436	15.62	0.98918737768455367	0.48509	0.16719	0.19518	N	AEFBI	0.065763	0.12845	N	-0.553055353220485	0.20389	1.074411	-0.446507720150497	0.23647	1.29074	0.990838974576066	0.32285	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.2	2.31	0.27816	-0.363000	0.07645	0.314000	0.17114	0.599000	0.40250	0.000000	0.06391	0.947000	0.28924	0.984000	0.60418	0.0:0.6899:0.0:0.3101	9.094	0.35787	464	0.78488	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1123.33	33	chr3	38183042	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=724;ExcessHet=0;FS=0.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.12;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1121	18	0	1	0
chr3	38251450	38251450	G	A	exonic	OXSR1	.	nonsynonymous SNV	OXSR1:NM_005109:exon16:c.G1423A:p.D475N	.	431	1074	17	0	0	17	0.00785219	.	.	.	2363656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0246765103145	0.0010	0.000399361	0.0007	0	0.0016	0.0001	0	0.0009	0.0022	0.0004	0.0006792	105	154602	rs145431865	0.0006	0.0006	0.0006	0.0006	0.0050	0.0005	0.0005	0.0036	0.0031	0.0003	0.0014	0	5.039e-05	1.872e-05	0.0050	0.0006	0.0009	0.0004	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	4.813e-05	0	0.0006	0	0	0	0	0.0007	0.0014	0	0.052	0.39097	T	0.096	0.39340	T	0.228	0.30509	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.655	0.42436	L	-1.04	0.76561	T	-3.75	0.71157	D	0.591	0.61087	-0.4454	0.70552	T	0.353	0.71611	T	10	0.059049547	0.07038	T	0.024677	0.47667	T	0.376	0.69443	.	.	0.806232872179	0.80441	0.35497379330828527	0.35411	0.966220291154	0.73190	0.857851743698	0.90794	D	0.445586	0.78855	T	-0.353928	0.04485	T	-0.316548	0.42951	T	0.0615864307264436	0.07416	T	0.966703	0.87848	D	0.49359933	0.66717	0.32648548	0.58555	0.49359933	0.66717	0.32648548	0.58554	-10.103	0.74526	D	.	.	0.294	0.52467	B	.	.	4.165679	0.62598	24.5	0.99853679764498693	0.93279	0.99029	0.90187	D	AEFBI	0.815328	0.73733	D	0.2468415530401	0.53482	3.516934	0.390099330104215	0.60952	4.288989	0.999999999808642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	7.906000	0.86803	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.165	0.86692	442	0.79946	Serine/threonine-protein kinase OSR1/WNK, CCT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.002924	0.050000	0.000000	0.006098	0.003788	0.02632	2262.33	185	chr3	38251450	.	G	A	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=819;ExcessHet=0;FS=2.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.57;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	251.47	33	chr3	38274345	.	GCACCC	G	251.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.778;DP=1269;ExcessHet=0.3672;FS=140.054;InbreedingCoeff=-0.0851;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.67;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38274346	38274349	CACC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_456del:p.T152Sfs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	251.47	33	chr3	38274345	.	GCACC	G	251.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.778;DP=1269;ExcessHet=0.3672;FS=140.054;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.67;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	17	0	2	0
chr3	38274346	38274346	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	718.62	33	chr3	38274346	.	C	*	718.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.141;DP=1459;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=3.59;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	16	0	3	0
chr3	38274348	38274348	C	G	exonic	SLC22A13	.	nonsynonymous SNV	SLC22A13:NM_004256:exon2:c.C455G:p.T152S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.017359748494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0020	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	2.238e-05	7.686e-05	5.053e-05	1.873e-05	0.0005	0.0004	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.105	0.38016	T	0.0	0.02946	B	0.002	0.06944	B	0.000041	0.55875	N	0.160393	0.99224	0.23913	N	-1.99	0.00200	N	-0.5	0.70480	T	0.9	0.01618	N	0.046	0.01825	-1.0462	0.15476	T	0.089	0.34160	T	10	0.14881968	0.28175	T	0.01736	0.39027	T	0.152	0.39956	0.69	0.82748	0.426436156839	0.42259	0.3084365791395323	0.30756	0.0676656924038	0.07564	0.273172974586	0.06559	T	0.075269	0.35137	T	-0.252894	0.13746	T	-0.601041	0.12725	T	0.420658379793167	0.29715	T	0.480552	0.14510	T	0.038479067	0.05134	0.06160156	0.11920	0.038479067	0.05134	0.06160156	0.11919	0.094	0.00317	T	.	.	0.106	0.19559	B	.	.	0.642485	0.10110	6.855	0.55694458031465099	0.05396	0.76760	0.37673	D	AEFBI	0.227826	0.35158	N	-1.16639776644557	0.05515	0.2516357	-1.01584251878332	0.09436	0.4694843	0.996808560441363	0.35023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.2	0.48814	3.549000	0.53431	0.356000	0.17526	-0.187000	0.09635	0.924000	0.32081	0.000000	0.08366	0.064000	0.16252	0.0:0.8541:0.1459:0.0	14.714	0.68872	432	0.80690	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	683.62	33	chr3	38274348	.	C	G	683.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	683.62	33	chr3	38274348	.	C	*	683.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	16	0	3	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	CTGGG	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38274349	38274349	-	GGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insGGGG:p.L153Gfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	CGGGG	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	*	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38274350	38274350	-	TGGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.457_458insTGGGG:p.M154Gfs*62	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	209.29	33	chr3	38274350	.	C	CTGGGG	209.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.96;DP=851;ExcessHet=0;FS=153.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.62;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1363:.	18	0	1	0
chr3	38496510	38496510	T	G	exonic	EXOG	.	nonsynonymous SNV	EXOG:NM_001145464:exon1:c.T143G:p.L48W,EXOG:NM_005107:exon1:c.T143G:p.L48W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0219492464526	.	.	8.314e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs775615944	6.847e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.39820	T	0.207	0.54934	T	0.964	0.55854	D	0.41	0.54860	B	0.054785	0.02065	N	2.108500	1	0.21485	N	1.79	0.46772	L	0.83	0.73949	T	-1.77	0.41809	N	0.203	0.32921	-0.6759	0.61561	T	0.302	0.67344	T	10	0.11931619	0.22576	T	0.021949	0.44785	T	0.227	0.52620	0.381	0.39807	0.338592109245	0.33472	0.5808419902416797	0.58013	0.24751225784	0.27297	0.355312824249	0.18702	T	0.280868	0.65358	T	-0.0584383	0.43153	T	-0.321719	0.42386	T	0.219260051846504	0.21427	T	0.60154	0.22486	T	0.041255124	0.06040	0.103345945	0.24794	0.041255124	0.06040	0.103345945	0.24793	-6.193	0.47866	T	.	.	0.080	0.22861	B	.;.;.	.;.;.	0.125575	0.05223	1.730	0.9174247180199212	0.21040	0.03912	0.09295	N	ALL	0.120408	0.23457	N	-0.72673630848774	0.15273	0.7682593	-0.967671513987168	0.10516	0.5301375	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.72	-5.38	0.02465	-1.231000	0.03049	-2.686000	0.03468	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1365:0.373:0.2787:0.2119	2.282	0.03865	477	0.77662	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2802.81	33	chr3	38496510	.	T	G	2802.81	.	AC=2;AF=0.053;AN=38;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.2;SOR=1.076	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1255	18	1	0	0
chr3	38579461	38579461	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon18:c.C3260T:p.A1087V,SCN5A:NM_001099404:exon18:c.C3263T:p.A1088V,SCN5A:NM_001099405:exon18:c.C3263T:p.A1088V,SCN5A:NM_001160160:exon18:c.C3260T:p.A1087V,SCN5A:NM_001354701:exon18:c.C3260T:p.A1087V,SCN5A:NM_198056:exon18:c.C3263T:p.A1088V	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	909492	Cardiac_arrhythmia|not_provided	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.106854158	.	.	9.018e-06	0	0	0	0	0	0	6.59e-05	6.5e-06	1	154602	rs778016632	2.055e-06	2.736e-06	1.363e-06	2.754e-06	3.481e-05	5.5e-07	1.5e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	0	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15984	T	0.612	0.16280	T	0.025	0.21781	B	0.038	0.23986	B	0.202723	0.03331	N	1.543990	0.619802	0.32695	D	0.46	0.12951	N	-3.7	0.95663	D	-0.38	0.13418	N	0.156	0.26837	-0.0295	0.81641	T	0.788	0.92815	D	10	0.09685749	0.17404	T	0.106854	0.78266	D	0.232	0.53354	0.307	0.27806	0.617229050736	0.61413	0.4526584610213486	0.45183	0.0327901517294	0.03426	.	.	.	0.381184	0.74356	T	0.0602657	0.59646	T	-0.151209	0.59137	T	0.117385654064531	0.14171	T	0.873813	0.58316	D	0.034759693	0.03961	0.057418093	0.10434	0.034759693	0.03961	0.057418093	0.10433	-4.483	0.30784	T	0.11432342206569455	0.10104	0.073	0.04517	B	.;.;.;.;.;.	.;.;.;.;.;.	1.585523	0.20285	14.68	0.79674545966602095	0.12849	0.47174	0.27924	N	AEFDBHCIJ	0.240115	0.36196	N	-0.526067770702512	0.21241	1.12576	-0.513117213337492	0.21796	1.180826	0.999999999727493	0.74766	0.554377	0.28877	0	0.491513	0.07743	0	0.584781	0.30282	0	0.567892	0.33627	0	.	.	4.42	2.55	0.29757	1.190000	0.31735	3.046000	0.36101	0.672000	0.70159	0.387000	0.26063	1.000000	0.68203	0.340000	0.25432	0.0:0.2153:0.5987:0.186	7.034	0.24160	543	0.72751	Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1275.83	33	chr3	38579461	.	G	A	1275.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.296;DP=692;ExcessHet=0.119;FS=0.882;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.834;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr3	38581298	38581298	C	G	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon17:c.G2861C:p.R954T,SCN5A:NM_001099404:exon17:c.G2861C:p.R954T,SCN5A:NM_001099405:exon17:c.G2861C:p.R954T,SCN5A:NM_001160160:exon17:c.G2861C:p.R954T,SCN5A:NM_001160161:exon17:c.G2861C:p.R954T,SCN5A:NM_001354701:exon17:c.G2861C:p.R954T,SCN5A:NM_198056:exon17:c.G2861C:p.R954T	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.13183993391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.30097	T	0.123	0.35710	T	0.003	0.16867	B	0.014	0.18489	B	0.000003	0.62929	D	0.060852	0.582312	0.31089	N	0	0.06538	N	-1.7	0.83072	D	-0.1	0.11913	N	0.235	0.30118	-0.4320	0.71001	T	0.339	0.70551	T	10	0.24385747	0.41607	T	0.13184	0.81412	D	0.390	0.70603	0.297	0.26202	0.721647961302	0.71918	0.7447736514280714	0.74423	0.0401256696675	0.04292	0.407306671143	0.26084	T	0.381708	0.74396	T	0.0870376	0.62853	D	-0.112753	0.62391	T	0.668321907520294	0.39262	D	0.726327	0.56785	T	0.15542729	0.35128	0.13614973	0.32578	0.15542729	0.35127	0.13614973	0.32577	-1.747	0.02739	T	0.1818212988338712	0.23463	0.107	0.27069	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.368428	0.46533	22.3	0.84500309515401861	0.15328	0.88833	0.48954	D	AEFDBHCIJ	0.850146	0.76697	D	-0.313755539704577	0.28624	1.580419	-0.180818939327813	0.32241	1.832409	0.999999999993623	0.74766	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	4.59	0.56297	4.158000	0.57932	3.338000	0.37683	0.599000	0.40250	0.975000	0.34726	0.940000	0.28757	0.210000	0.22183	0.0:1.0:0.0:0.0	17.619	0.87977	551	0.72115	Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2612.33	101	chr3	38581298	.	C	G	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=1104;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.348;SOR=0.718	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr3	39103525	39103525	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_031899:exon2:c.C92T:p.A31V	.	423	1082	15	2	0	19	0.00870362	.	.	.	708833	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.309	0.055553734427	0.0045	0.000998403	0.0044	0.0018	0.0021	0	0.0011	0.0068	0.0056	0.0014	0.0044178	683	154602	rs140965034	0.0058	0.0059	0.0058	0.0059	0.0103	0.0057	0.0057	0.0082	0.0074	0.0010	0.0021	0.0034	5.04e-05	0.0015	0.0103	0.0069	0.0055	0.0016	0.0041	0.0041	0.0041	0.0040	0.0069	0.0038	0.0037	0.0064	0.0062	0.0012	0	0.0036	0.0035	0	0.0011	0.0102	0.0069	0.0052	0.0012	0.079	0.50676	T	0.003	0.76473	D	0.998	0.73220	D	0.883	0.62698	P	0.000113	0.50451	D	0.169966	0.999997	0.81001	D	3.01	0.86067	M	1.09	0.39223	T	-3.9	0.73579	D	0.697	0.70175	-0.5431	0.67047	T	0.193	0.54579	T	10	0.009057999	0.00205	T	0.055554	0.66278	D	0.309	0.63055	.	.	0.253981072376	0.25009	0.8611171344085738	0.86075	0.562925925514	0.52745	0.66104221344	0.61558	T	0.097135	0.61438	T	-0.332059	0.05957	T	-0.242792	0.50526	T	0.0425861674960746	0.04161	T	0.89911	0.64631	D	0.27576798	0.50640	0.17571062	0.40056	0.27576798	0.50640	0.17571062	0.40055	-8.723	0.65896	D	.	.	0.584	0.68231	P	.;.;.	.;.;.	5.179522	0.86839	29.0	0.99905353714743061	0.97651	0.90587	0.51887	D	AEFDBHCI	0.720418	0.67098	D	0.612667567709137	0.73976	6.054688	0.53551609172726	0.70396	5.499116	0.999999998265908	0.74766	0.743674	0.98306	0	0.635938	0.57008	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.66	4.66	0.57857	4.830000	0.62434	11.720000	0.94800	-0.168000	0.11412	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.1605:0.8395:0.0	14.331	0.66114	359	0.84979	.;.;GRASP55/65 PDZ-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011628	0.020202	0.006793	0.008824	0.050000	0.000000	0.009259	0.015267	0.02632	1611.33	34	chr3	39103525	.	G	A	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=836;ExcessHet=0;FS=1.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.826;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	18	0	1	0
chr3	39121070	39121070	A	G	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon8:c.A851G:p.Y284C,TTC21A:NM_001366899:exon9:c.A998G:p.Y333C,TTC21A:NM_001366900:exon9:c.A974G:p.Y325C,TTC21A:NM_145755:exon9:c.A998G:p.Y333C	.	425	1080	17	0	0	17	0.00780891	.	.	.	3221215	TTC21A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.060	0.00715128831217	0.0003	0.000399361	0.0010	0.0002	0.0014	0	0.0002	0.0014	0.0022	0.0004	0.0008667	134	154602	rs201536754	0.0008	0.0008	0.0008	0.0008	0.0101	0.0008	0.0007	0.0080	0.0072	0.0001	0.0028	0.0106	0	1.872e-05	0.0101	0.0005	0.0017	0.0004	0.0009	0.0009	0.0008	0.0010	0.0032	0.0008	0.0008	0.0025	0.0022	7.22e-05	0	0.0032	0.0110	0	0	0.0034	0.0007	0.0019	0.0002	0.245	0.17410	T	0.11	0.37310	T	0.003	0.11197	B	0.001	0.06944	B	0.559051	0.11355	N	0.800555	1	0.08975	N	0.75	0.19020	N	0.58	0.54149	T	-1.63	0.39119	N	0.08	0.07673	-1.0383	0.17832	T	0.066	0.27330	T	10	0.0040737092	0.00080	T	0.007151	0.18951	T	0.060	0.17295	.	.	0.414539908741	0.41071	0.09259233196301442	0.09191	0.160688802949	0.18139	0.221277058125	0.01385	T	0.007128	0.06547	T	-0.563235	0.00243	T	-0.585502	0.14058	T	0.00705704552161898	0.00080	T	0.675032	0.28342	T	0.07110289	0.15715	0.046708573	0.06570	0.07110289	0.15715	0.046708573	0.06569	-4.451	0.30243	T	.	.	0.062	0.01367	B	.;.	.;.	0.446493	0.08165	4.900	0.5272290911502977	0.04802	0.37682	0.25817	N	AEFGBI	0.095043	0.19209	N	-0.82054889926489	0.12786	0.625494	-0.753853610119121	0.15628	0.8228525	0.999658939015577	0.41424	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	5.95	2.25	0.27340	3.037000	0.49465	-0.223000	0.10745	0.756000	0.94297	0.115000	0.23085	0.000000	0.08366	0.001000	0.02609	0.5876:0.1626:0.0935:0.1563	2.192	0.03663	373	0.84140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.003788	0.02632	3019.33	38	chr3	39121070	.	A	G	3019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=879;ExcessHet=0;FS=2.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.539;SOR=0.569	GT:AD:DP:GQ:PL	0/1:118,124:242:99:3033,0,3008	18	0	1	0
chr3	39129169	39129169	G	A	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.G1871A:p.S624N,TTC21A:NM_001366899:exon15:c.G2018A:p.S673N,TTC21A:NM_001366900:exon15:c.G1994A:p.S665N,TTC21A:NM_145755:exon15:c.G2015A:p.S672N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0303677983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.261	0.22962	T	0.988	0.62325	D	0.676	0.53321	P	0.000011	0.62929	D	0.067325	0.764501	0.34077	D	2.135	0.59519	M	0.11	0.76168	T	-1.74	0.41239	N	0.295	0.37301	-0.1160	0.79728	T	0.507	0.81454	D	10	0.28910917	0.46492	T	0.030368	0.52693	D	0.210	0.50028	0.498	0.58835	0.831874080974	0.83027	0.29099165301796487	0.29012	0.498617798066	0.48330	0.412031978369	0.26738	T	0.006133	0.05569	T	-0.108404	0.35033	T	-0.393492	0.34142	T	0.889597952365875	0.54032	D	0.679032	0.28770	T	0.3235373	0.54937	0.24187201	0.49594	0.3235373	0.54937	0.24187201	0.49593	-7.189	0.55438	T	.	.	0.176	0.42462	B	.;.	.;.	2.906323	0.38538	20.8	0.99669297964766934	0.78458	0.85034	0.44135	D	AEFBI	0.394165	0.47153	N	0.356267059269863	0.59072	4.083666	0.432954759655508	0.63630	4.600609	0.999998603016257	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	2.647000	0.46304	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.935	0.92555	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1952.33	35	chr3	39129169	.	G	A	1952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.194;DP=793;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.053;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	39129193	39129193	T	C	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.T1895C:p.L632P,TTC21A:NM_001366899:exon15:c.T2042C:p.L681P,TTC21A:NM_001366900:exon15:c.T2018C:p.L673P,TTC21A:NM_145755:exon15:c.T2039C:p.L680P	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.106374452102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.90584	D	0.921	0.76113	D	0.061825	0.22142	N	0.318910	1	0.81001	D	3.3	0.90472	M	-0.3	0.79761	T	-6.37	0.91184	D	0.923	0.92667	0.424	0.89452	D	0.664	0.88351	D	10	0.91583085	0.90944	D	0.106374	0.78195	D	0.673	0.87917	0.616	0.75000	0.815279306624	0.81353	0.8899980095346787	0.88969	0.74807911618	0.63619	0.556256532669	0.46739	T	0.17826	0.52885	T	0.355799	0.86925	D	0.273304	0.86754	D	0.98775988817215	0.78191	D	0.839616	0.51418	T	0.7615444	0.81545	0.7066331	0.82703	0.7615444	0.81546	0.7066331	0.82704	-14.777	0.95441	D	.	.	0.905	0.85584	P	.;.	.;.	4.011450	0.59186	24.1	0.99856865473304501	0.93548	0.95309	0.64221	D	AEFBI	0.850211	0.76704	D	0.613725205889292	0.74042	6.065947	0.523358486576801	0.69566	5.378599	0.999999271246721	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.85	4.65	0.57626	6.076000	0.70901	6.111000	0.53665	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0:0.1408:0.8592	12.336	0.54390	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	35	chr3	39129193	.	T	C	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.412;DP=838;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=2.03;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	39135169	39135169	C	T	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon21:c.C2816T:p.A939V,TTC21A:NM_001366899:exon22:c.C2963T:p.A988V,TTC21A:NM_001366900:exon22:c.C2939T:p.A980V,TTC21A:NM_145755:exon22:c.C2960T:p.A987V	.	426	1083	13	0	0	13	0.00596604	.	.	.	3185109	not_provided|TTC21A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0076	0.00219649	0.0080	0.0015	0.0026	0.0003	0.0054	0.0118	0.01	0.0056	0.0079818	1234	154602	rs79015599	0.0096	0.0096	0.0098	0.0093	0.0112	0.0094	0.0094	0.0111	0.0110	0.0016	0.0025	0.0019	0.0001	0.0069	0.0042	0.0112	0.0065	0.0055	0.0072	0.0072	0.0076	0.0068	0.0111	0.0069	0.0067	0.0104	0.0102	0.0025	0.0877	0.0022	0.0037	0	0.0078	0	0.0111	0.0052	0.0044	0.275	0.15770	T	0.292	0.20877	T	0.002	0.32207	B	0.003	0.18783	B	0.271176	0.15125	N	0.647297	1	0.08975	N	2.015	0.55033	M	1.15	0.38236	T	-1.59	0.38924	N	0.07	0.07811	-1.0688	0.09679	T	0.044	0.19111	T	10	0.0024488568	0.00037	T	.	.	.	0.037	0.09474	.	.	0.0806252709748	0.07271	0.17081410747736048	0.17001	0.129924708877	0.14651	0.272715091705	0.06498	T	0.007519	0.06921	T	-0.657348	0.00065	T	-0.70598	0.05504	T	0.00301996009467174	0.00032	T	0.614539	0.23442	T	0.043325085	0.06732	0.055911183	0.09893	0.043325085	0.06731	0.055911183	0.09892	-3.025	0.10453	T	.	.	0.077	0.06250	B	.;.	.;.	1.048117	0.14294	10.87	0.90938553121732468	0.20187	0.08861	0.14726	N	AEFGBHCI	0.058167	0.10892	N	-1.10514600761943	0.06551	0.3018753	-1.1190649187688	0.07336	0.3564484	0.999999829774834	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.75052	0.99595	0	.	.	4.66	0.839	0.18042	0.490000	0.22112	-2.178000	0.04099	-0.172000	0.11096	0.017000	0.19353	0.000000	0.08366	0.959000	0.51448	0.1225:0.5721:0.0:0.3054	6.262	0.20114	363	0.84772	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.009511	0.000000	0.000000	0.000000	0.015244	0.015152	0.02632	363.33	33	chr3	39135169	.	C	T	363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.762;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,900	18	0	1	0
chr3	39143578	39143578	T	C	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.A1307G:p.N436S,CSRNP1:NM_001320560:exon5:c.A1247G:p.N416S,CSRNP1:NM_033027:exon5:c.A1247G:p.N416S	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00229822606496	.	.	4.122e-05	0	8.643e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs775143708	2.052e-05	2.052e-05	2.042e-05	2.063e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	2.521e-05	0	8.944e-05	0	0	3.744e-05	0.0003	1.529e-05	6.623e-05	1.159e-05	1.314e-05	1.312e-05	0	2.687e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0.0034	0	0	0	0.625	0.05229	T	0.766	0.04539	T	0.001	0.07471	B	0.001	0.04355	B	0.000318	0.00561	N	9.442000	0.999997	0.08975	N	0.625	0.15840	N	1.04	0.40218	T	0.2	0.04861	N	0.017	0.00226	-1.0549	0.13066	T	0.053	0.22346	T	10	0.019136965	0.00424	T	0.002298	0.04424	T	0.028	0.06331	.	.	0.231005064126	0.22704	0.07239712369360737	0.07176	0.199001487683	0.22291	0.309333652258	0.11806	T	0.067746	0.33280	T	-0.524471	0.00414	T	-0.794171	0.02052	T	0.104493878781796	0.12843	T	0.659934	0.26896	T	0.03425469	0.03810	0.027205061	0.00857	0.03425469	0.03809	0.027205061	0.00857	-1.012	0.01013	T	.	.	0.063	0.01645	B	.;.	.;.	-0.458945	0.02002	0.177	0.64960230585367074	0.07638	0.03274	0.08314	N	AEFDBHCI	0.035614	0.04615	N	-1.18880407112241	0.05169	0.2349893	-1.17808819609373	0.06277	0.3016462	0.999999411141586	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.43	-2.6	0.05830	-1.037000	0.03667	-0.312000	0.10031	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.0:0.3082:0.4498:0.242	5.698	0.17138	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2053.33	157	chr3	39143578	.	T	C	2053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=2009;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.65;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800:.	18	0	1	0
chr3	39144409	39144409	G	T	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon4:c.C568A:p.P190T,CSRNP1:NM_001320560:exon4:c.C508A:p.P170T,CSRNP1:NM_033027:exon4:c.C508A:p.P170T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00417887885368	0.0012	0.000599042	0.0013	0.0003	0.0015	0	0.0002	0.0021	0.0011	0	0.0013001	201	154602	rs145888015	0.0017	0.0017	0.0017	0.0017	0.0024	0.0017	0.0016	0.0021	0.0019	0.0002	0.0024	0.0004	0	0.0003	0.0009	0.0020	0.0019	3.479e-05	0.0012	0.0012	0.0014	0.0011	0.0020	0.0011	0.0010	0.0016	0.0015	0.0004	0	0.0020	0.0006	0	0.0002	0.0034	0.0019	0.0052	0	0.233	0.18122	T	0.12	0.35970	T	0.152	0.28062	B	0.069	0.27757	B	0.000554	0.43413	D	0.156845	1	0.08975	N	0.69	0.16971	N	2.49	0.14531	T	1.18	0.01107	N	0.131	0.12627	-1.0006	0.29746	T	0.019	0.07753	T	10	0.006747216	0.00153	T	0.004179	0.10058	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.1927263571788251	0.19190	0.31758600541	0.34000	0.398767948151	0.24896	T	0.114088	0.43163	T	-0.640777	0.00082	T	-0.699376	0.05860	T	0.013392302398815	0.00242	T	0.646635	0.25786	T	0.046507858	0.07794	0.0607372	0.11616	0.046507858	0.07793	0.0607372	0.11615	-4.326	0.28540	T	.	.	0.076	0.06295	B	.;.	.;.	2.331167	0.29866	18.26	0.55885972583956067	0.05436	0.71476	0.35029	D	AEFDBHCI	0.114877	0.22610	N	-0.563117661186311	0.20074	1.055571	-0.498818475397158	0.22187	1.20383	0.999999978414917	0.74766	0.489673	0.17934	0	0.552637	0.17590	0	0.759307	0.98198	0	0.636168	0.56350	0	.	.	5.14	3.17	0.35510	3.117000	0.50099	5.384000	0.48464	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.003000	0.05239	0.0:0.1428:0.7096:0.1476	10.537	0.44198	370	0.84343	Cysteine/serine-rich nuclear protein, N-terminal domain;Cysteine/serine-rich nuclear protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1536.33	99	chr3	39144409	.	G	T	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=1650;ExcessHet=0;FS=2.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.134;SOR=0.508	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr3	39184680	39184680	G	A	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.C815T:p.T272I,XIRP1:NM_194293:exon2:c.C4766T:p.T1589I	.	426	1093	3	0	0	3	0.00137049	.	.	.	720428	not_provided|XIRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.055	.	.	0.0105831	0.0056	0	0	0	0	2.997e-05	0.0022	0.0409	0.0049353	763	154602	rs367987838	0.0024	0.0024	0.0014	0.0034	0.0384	0.0023	0.0023	0.0373	0.0369	0.0002	0	0	7.557e-05	0	0.0009	2.428e-05	0.0029	0.0384	0.0014	0.0014	0.0006	0.0022	0.0428	0.0012	0.0012	0.0381	0.0362	4.811e-05	0	0	0	0	0	0	1.47e-05	0.0014	0.0428	0.007	0.59928	D	0.144	0.67890	T	0.002	0.09854	B	0.002	0.06944	B	0.162266	0.17626	U	0.562398	1	0.08975	N	1.95	0.52479	M	3.91	0.18083	T	-1.51	0.43906	N	0.037	0.01135	-1.0274	0.21299	T	0.033	0.14029	T	10	0.0019234419	0.00026	T	.	.	.	0.055	0.15663	0.328	0.31196	0.225215365344	0.22153	0.1671135550963803	0.16631	0.0729607557204	0.08176	0.301204442978	0.10581	T	0.132215	0.46217	T	-0.677721	0.00049	T	-0.716289	0.04977	T	0.0171126064956207	0.00457	T	0.40306	0.10319	T	0.069862105	0.15340	0.10463911	0.25137	0.07094698	0.15667	0.10463911	0.25136	-5.634	0.44478	T	.	.	0.140	0.35622	B	.;.	.;.	0.498979	0.08683	5.453	0.98687423878303482	0.44709	0.12249	0.17152	N	AEFBHCI	0.086322	0.17502	N	-0.764193074309983	0.14251	0.7083419	-0.786873862669531	0.14817	0.7761893	0.999953401891131	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.37	0.452	0.15846	-0.055000	0.11763	-2.340000	0.03878	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4888:0.0:0.5112:0.0	7.643	0.27470	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.018939	0.02632	2615.33	40	chr3	39184680	.	G	A	2615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=992;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.39;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr3	39189421	39189421	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001198621:exon2:c.G25A:p.A9T,XIRP1:NM_194293:exon2:c.G25A:p.A9T	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00466215108462	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001488	23	154602	rs200072362	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0038	0.0033	0.0002	0.0003	0.0012	0	0	0.0053	0.0001	0.0004	2.381e-05	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0	0.0068	0.0003	0	0	0.087	0.32769	T	0.186	0.28860	T	0.094	0.25382	B	0.035	0.22741	B	0.236280	0.15810	U	0.613800	1	0.08975	N	1.185	0.30054	L	3.48	0.05130	T	-0.6	0.17834	N	0.149	0.15187	-0.9958	0.31082	T	0.015	0.06138	T	10	0.025814652	0.00765	T	0.004662	0.11566	T	0.027	0.05988	.	.	0.104622674875	0.10061	0.37259341877305424	0.37173	0.0839709123402	0.09469	0.315196096897	0.12693	T	0.088577	0.38189	T	-0.494385	0.00615	T	-0.64195	0.09528	T	0.0338719793051134	0.02616	T	0.627737	0.24333	T	0.027039435	0.01840	0.04280248	0.05182	0.027039435	0.01840	0.04280248	0.05182	-3.35	0.14391	T	.	.	0.071	0.09627	B	.;.	.;.	2.658426	0.34630	19.68	0.92364606829283957	0.21769	0.64400	0.32395	D	AEFDBCI	0.248055	0.36852	N	-0.699186007757726	0.16045	0.8140311	-0.680534631584193	0.17448	0.9277975	0.999974145309159	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.39	2.4	0.28568	1.795000	0.38418	1.665000	0.27922	-0.218000	0.08083	0.982000	0.35529	0.814000	0.27065	0.089000	0.17737	0.1998:0.6067:0.1936:0.0	6.937	0.23654	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005051	0.002717	0.002924	0.000000	0.000000	0.006135	0.007576	0.02632	787.33	45	chr3	39189421	.	C	T	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.148;SOR=0.73	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr3	39266436	39266436	T	C	exonic	CX3CR1	.	nonsynonymous SNV	CX3CR1:NM_001171171:exon2:c.A74G:p.D25G,CX3CR1:NM_001171172:exon2:c.A74G:p.D25G,CX3CR1:NM_001171174:exon2:c.A170G:p.D57G,CX3CR1:NM_001337:exon2:c.A74G:p.D25G	.	427	1079	16	0	0	16	0.00735971	.	.	.	698076	CX3CR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.045589990427	0.0009	0.00159744	0.0018	0.0004	0.0011	0.0001	0.0005	0.0017	0.0033	0.0049	0.0019211	297	154602	rs139019894	0.0017	0.0017	0.0016	0.0019	0.0061	0.0017	0.0017	0.0046	0.0045	0.0002	0.0008	0.0005	0	0.0005	0.0061	0.0017	0.0016	0.0050	0.0017	0.0018	0.0018	0.0017	0.0035	0.0016	0.0015	0.0022	0.0018	0.0004	0.0835	0.0006	0.0006	0	0.0003	0.0034	0.0021	0.0014	0.0035	0.323	0.20230	T	0.324	0.22291	T	0.748	0.43202	P	0.314	0.41528	B	0.001844	0.37840	N	0.288099	0.973387	0.40183	D	2.16	0.60381	M	-0.23	0.67011	T	-2.01	0.61284	N	0.156	0.16447	-0.6697	0.61842	T	0.235	0.60173	T	10	0.0067985356	0.00154	T	0.04559	0.62052	D	0.243	0.54921	.	.	0.87347482101	0.87224	0.45125566082470925	0.45043	0.915994666327	0.71242	0.367373347282	0.20453	T	0.242901	0.61174	T	-0.338096	0.05522	T	-0.257612	0.49063	T	0.037596380330805	0.03260	T	0.768023	0.39669	T	0.20018595	0.41985	0.1535245	0.36072	0.20018595	0.41985	0.1535245	0.36072	-6.789	0.52878	T	.	.	0.241	0.53709	B	.;.;.;.;.;.	.;.;.;.;.;.	1.797848	0.22853	15.79	0.97595132944791785	0.34814	0.99225	0.93076	D	AEFGBI	0.696385	0.65474	D	0.106768863302816	0.46777	2.913044	0.116353122033283	0.45383	2.802575	0.999999996952366	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	5.39	0.77615	2.443000	0.44540	4.165000	0.42235	0.665000	0.62972	0.137000	0.23458	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.0:1.0	14.227	0.65413	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.008621	0.015244	0.007576	0.02632	1768.33	37	chr3	39266436	.	T	C	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.858;DP=781;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.242;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1297	18	0	1	0
chr3	39383727	39383727	G	C	exonic	SLC25A38	.	startloss	SLC25A38:NM_001354798:exon1:c.G3C:p.M1?,SLC25A38:NM_017875:exon1:c.G3C:p.M1?	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.352974777131	.	.	8.323e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs762340842	2.736e-06	2.736e-06	0	5.501e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.116	0.36497	T	0.003	0.11197	B	0.006	0.12133	B	0.000315	0.45977	D	0.073825	1	0.81001	D	.	.	.	-1.24	0.78967	T	-0.53	0.16393	N	0.825	0.82057	-0.5060	0.68432	T	0.319	0.68874	T	9	0.98268574	0.98363	D	0.352975	0.92317	D	0.452	0.75211	0.992	0.99914	0.799485235877	0.79761	0.3370868445225146	0.33621	.	.	.	.	.	0.010424	0.09418	T	0.483923	0.93830	D	0.66	0.99401	D	0.985042810440063	0.76158	D	0.9	0.65058	D	0.6848416	0.77231	0.63371897	0.78623	0.6848416	0.77232	0.63371897	0.78624	-9.647	0.71771	D	.	.	.	.	.	.;.;.;.	.;.;.;.	3.686623	0.52507	23.2	0.98621705758528011	0.43785	0.92867	0.56741	D	ALL	0.036890	0.04988	N	-0.207073078859169	0.32843	1.856762	-0.145996745561596	0.33562	1.921149	0.999999999999991	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.25	4.25	0.49658	4.377000	0.59330	10.809000	0.83812	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.0:1.0:0.0	12.005	0.52547	779	0.47767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1311.33	33	chr3	39383727	.	G	C	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.058;DP=724;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.44;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	18	0	1	0
chr3	40044238	40044238	A	G	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284423:exon3:c.A299G:p.K100R,MYRIP:NM_001284424:exon3:c.A299G:p.K100R,MYRIP:NM_001284425:exon3:c.A169G:p.R57G,MYRIP:NM_015460:exon3:c.A299G:p.K100R	.	430	1081	10	1	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0182370416144	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs78333608	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.153	0.24372	T	0.686	0.06325	T	0.016	0.17332	B	0.006	0.12133	B	0.000002	0.62929	D	0.057568	0.870215	0.36039	D	.	.	.	-1.05	0.76690	T	-0.77	0.21429	N	0.38	0.42149	-1.0714	0.09108	T	0.038	0.16376	T	9	0.007050365	0.00160	T	0.018237	0.40237	T	0.171	0.43483	.	.	0.747945037046	0.74567	0.17237666544480867	0.17157	0.0958547809108	0.10824	0.505407094955	0.39581	T	0.103352	0.41192	T	-0.413328	0.01889	T	-0.366501	0.37298	T	0.010854448576527	0.00155	T	0.756624	0.37993	T	0.07325204	0.16357	0.07547721	0.16620	0.07325204	0.16356	0.07547721	0.16620	-4.442	0.30705	T	.	.	0.090	0.12512	B	.;.;.	.;.;.	2.387104	0.30647	18.50	0.99485037414579836	0.67124	0.81850	0.41173	D	AEFBCI	0.534868	0.55373	D	-0.265677819356349	0.30483	1.700102	-0.0652685974124645	0.36836	2.148911	0.999537568198276	0.40238	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	4.15	0.47978	3.759000	0.54939	5.854000	0.50366	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.9043:0.0:0.0957:0.0	9.706	0.39380	860	0.33753	Rab-binding domain;Rab-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.05263	5061.83	42	chr3	40044238	.	A	G	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.558;DP=938;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.575;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1325:.	17	0	2	0
chr3	40044239	40044239	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284425:exon3:c.G170A:p.R57K	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00357324005961	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs75059664	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.066	0.36113	T	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.72	0.26588	T	-1.27	0.31981	N	0.227	0.25499	-1.0767	0.08003	T	0.042	0.18035	T	7	0.0034650266	0.00061	T	0.003573	0.08154	T	0.078	0.22779	.	.	0.276898752692	0.27294	.	.	.	.	.	.	.	.	.	.	-0.439613	0.01300	T	-0.404257	0.32890	T	0.00482526047398929	0.00052	T	0.259074	0.04125	T	.	.	.	.	.	.	.	.	-3.986	0.23594	T	.	.	0.089	0.12132	B	.	.	0.336994	0.07107	3.682	0.91495170851510488	0.20769	0.75806	0.37136	D	AEFBCI	0.106788	0.21295	N	-0.898890919636809	0.10868	0.5215509	-0.783454552380941	0.14900	0.7809845	0.996668658651023	0.34909	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	2.64	0.30504	3.215000	0.50871	1.109000	0.24140	-1.332000	0.01214	1.000000	0.71638	0.897000	0.27914	0.812000	0.38265	0.221:0.0:0.779:0.0	11.507	0.49724	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.007576	0.05263	5061.83	42	chr3	40044239	.	G	A	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=935;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.351;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1325:.	17	0	2	0
chr3	40044263	40044263	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284425:exon3:c.G194A:p.S65N	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0122810275619	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs143190306	0.0002	0.0002	0.0002	0.0002	0.0099	0.0002	0.0002	0.0078	0.0071	0.0003	0.0006	0	0	1.872e-05	0.0099	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	9.139e-05	7.696e-05	0.0001	8.876e-05	2.404e-05	0	0.0003	0	0	0	0.0068	0.0002	0	0.0002	0.025	0.47320	D	0.296	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.97	0.22067	T	0.23	0.04613	N	0.293	0.33140	-1.0743	0.08493	T	0.035	0.14857	T	7	0.047712415	0.04125	T	0.012281	0.30711	T	0.018	0.03083	.	.	0.240491677333	0.23641	.	.	.	.	.	.	.	.	.	.	-0.31371	0.07425	T	-0.334366	0.40982	T	0.0220483418210576	0.00915	T	0.332367	0.07003	T	.	.	.	.	.	.	.	.	-5.395	0.40871	T	.	.	0.197	0.41873	B	.	.	0.667958	0.10363	7.091	0.98435108797201221	0.41442	0.84359	0.43441	D	AEFBCI	0.202345	0.32894	N	-0.0748753413632162	0.38498	2.255639	0.0605489899286033	0.42585	2.578265	0.99990450012971	0.45458	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	3.71	0.41733	3.717000	0.54640	3.689000	0.39491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1747:0.0:0.8253:0.0	9.225	0.36559	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	1725.33	42	chr3	40044263	.	G	A	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.494;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.073;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr3	40462029	40462032	ACTG	0	exonic	RPL14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36694.9	59	chr3	40462029	.	ACTG	*	36694.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=1513;ExcessHet=0.0107;FS=0.848;InbreedingCoeff=0.4747;MLEAC=1;MLEAF=0.026;MQ=58.24;MQRankSum=-0.473;QD=31.34;ReadPosRankSum=0.299;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:62:99:.:.:614,747,2590:.	18	0	1	0
chr3	40487313	40487313	C	G	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145083:exon4:c.C671G:p.A224G,ZNF619:NM_001145093:exon5:c.C803G:p.A268G,ZNF619:NM_001145082:exon6:c.C923G:p.A308G,ZNF619:NM_001145094:exon6:c.C776G:p.A259G,ZNF619:NM_001363277:exon6:c.C629G:p.A210G,ZNF619:NM_173656:exon6:c.C755G:p.A252G	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00724181994539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.38633	T	0.061	0.49120	T	0.998	0.73220	D	0.965	0.71173	D	.	.	.	.	0.999985	0.18612	N	0.41	0.12415	N	1.26	0.36330	T	-2.41	0.57275	N	0.118	0.11912	-1.0475	0.15102	T	0.119	0.41735	T	9	0.20559764	0.36792	T	0.007242	0.19198	T	0.059	0.16972	0.563	0.68364	0.29527378943	0.29149	0.027645007409229674	0.02714	0.185115657917	0.20806	0.273412108421	0.06591	T	0.147121	0.48505	T	-0.224686	0.17359	T	-0.560523	0.16327	T	0.491989180838879	0.32337	T	0.292471	0.05369	T	0.11959427	0.28157	0.14658839	0.34723	0.11959427	0.28157	0.14658839	0.34722	-6.123	0.48317	T	.	.	0.170	0.37633	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.993875	0.13720	10.26	0.99394713630019782	0.62519	0.00389	0.01958	N	AEFBHCI	0.032946	0.03818	N	-0.366395971980335	0.26674	1.457582	-0.451594722885396	0.23504	1.282082	0.142967511696724	0.17307	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.64	1.61	0.22752	0.385000	0.20413	-2.347000	0.03869	0.449000	0.21268	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.5659:0.4341:0.0	7.725	0.27920	628	0.65206	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1549.33	33	chr3	40487313	.	C	G	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.174;DP=746;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.72;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	18	0	1	0
chr3	40487424	40487424	G	A	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145083:exon4:c.G782A:p.R261Q,ZNF619:NM_001145093:exon5:c.G914A:p.R305Q,ZNF619:NM_001145082:exon6:c.G1034A:p.R345Q,ZNF619:NM_001145094:exon6:c.G887A:p.R296Q,ZNF619:NM_001363277:exon6:c.G740A:p.R247Q,ZNF619:NM_173656:exon6:c.G866A:p.R289Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00176550416599	7.7e-05	.	3.3e-05	9.76e-05	0	0.0001	0	2.999e-05	0	0	3.23e-05	5	154602	rs374238547	2.052e-05	2.052e-05	1.225e-05	2.888e-05	2.518e-05	1.456e-05	1.264e-05	1.746e-05	1.503e-05	0	0	0	0	0	0	2.518e-05	0	2.319e-05	3.945e-05	3.941e-05	0	8.076e-05	0.0001	1.716e-05	1.13e-05	4.742e-05	3.055e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.969	0.03013	T	0.871	0.05805	T	0.021	0.27154	B	0.006	0.14941	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	1.75	0.26152	T	0.46	0.08340	N	0.121	0.13769	-0.9745	0.36235	T	0.024	0.10194	T	9	0.018016338	0.00389	T	0.001766	0.02986	T	0.002	0.00045	.	.	0.190952846119	0.18690	0.03037046038193193	0.02986	0.0350039370526	0.03692	0.317263543606	0.13005	T	0.008638	0.07968	T	-0.420957	0.01686	T	-0.660924	0.08203	T	0.0264873881253019	0.01472	T	0.125887	0.00981	T	0.026391272	0.01691	0.042071402	0.04928	0.026391272	0.01691	0.042071402	0.04928	-2.218	0.08749	T	.	.	0.390	0.58999	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.066119	0.03848	0.829	0.48441712889468042	0.04043	0.00392	0.01969	N	AEFBHCI	0.035099	0.04461	N	-1.6611013653212	0.00989	0.0428761	-1.69176578777332	0.01174	0.05283431	0.15918508897193	0.17566	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.69	-1.02	0.09618	-3.161000	0.00637	-12.996000	0.00486	-0.302000	0.06182	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.1222:0.0:0.4528:0.425	5.131	0.14241	628	0.65206	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1361.33	33	chr3	40487424	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=717;ExcessHet=0;FS=4.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=2.64;SOR=0.346	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	18	0	1	0
chr3	41681599	41681599	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon28:c.G1981A:p.V661M,ULK4:NM_001322500:exon29:c.G2887A:p.V963M,ULK4:NM_017886:exon29:c.G2887A:p.V963M	.	437	1083	2	0	0	2	0.000922509	.	.	.	225810	ULK4-related_disorder|Intellectual_disability,_moderate	.|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.0399049784214	0.0037	0.00219649	0.0032	0.0009	0.0020	0.0001	0.0051	0.0043	0.0011	0.0015	0.0032859	508	154602	rs188590896	0.0042	0.0042	0.0042	0.0042	0.0048	0.0041	0.0041	0.0047	0.0046	0.0006	0.0021	0.0021	5.039e-05	0.0053	0.0005	0.0048	0.0042	0.0015	0.0037	0.0037	0.0040	0.0033	0.0055	0.0034	0.0033	0.0050	0.0048	0.0012	0.0263	0.0030	0.0020	0.0002	0.0051	0	0.0055	0.0033	0.0006	0.02	0.49613	D	0.012	0.63918	D	0.934	0.52202	P	0.289	0.40655	B	0.003024	0.35542	U	0.118518	0.501971	0.31718	N	1.39	0.34934	L	-0.12	0.64630	T	-0.41	0.14000	N	0.438	0.47672	-0.9206	0.45472	T	0.115	0.40740	T	10	0.006424904	0.00146	T	0.039905	0.59076	D	0.131	0.35738	.	.	0.473222633396	0.46952	0.39931275101669483	0.39846	0.0851734426046	0.09628	0.403169602156	0.25510	T	0.001977	0.01384	T	-0.446794	0.01179	T	-0.41028	0.32193	T	0.0187744089330003	0.00589	T	0.728327	0.34315	T	0.042193618	0.06354	0.05921393	0.11075	0.042193618	0.06354	0.05921393	0.11075	-6.075	0.46902	T	.	.	0.175	0.38245	B	.	.	2.266805	0.28969	17.97	0.99593718519354701	0.73748	0.77957	0.38393	D	ALL	0.171792	0.29878	N	-0.0191656622714363	0.40989	2.443784	0.0127442424918409	0.40305	2.40331	0.999999999999997	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.735289	0.94003	0	0.655142	0.61905	0	.	.	5.75	3.97	0.45241	2.502000	0.45058	1.341000	0.25737	-0.172000	0.11096	0.979000	0.35152	0.752000	0.26558	0.346000	0.25568	0.1309:0.6886:0.1136:0.0669	7.599	0.27235	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1222.33	36	chr3	41681599	.	C	T	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=737;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.732;SOR=0.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1440	18	0	1	0
chr3	41789798	41789798	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon20:c.G1150A:p.V384I,ULK4:NM_001322500:exon21:c.G2056A:p.V686I,ULK4:NM_017886:exon21:c.G2056A:p.V686I	.	436	1084	2	0	0	2	0.000921659	.	.	.	225812	not_provided|Intellectual_disability,_moderate|ULK4-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0112668917059	0.0040	0.00259585	0.0035	0.0009	0.0027	0	0.0054	0.0047	0.0022	0.0014	0.0034411	532	154602	rs77615850	0.0044	0.0044	0.0044	0.0043	0.0050	0.0043	0.0042	0.0049	0.0048	0.0006	0.0026	0.0021	0	0.0054	0.0005	0.0050	0.0043	0.0013	0.0039	0.0039	0.0042	0.0035	0.0055	0.0036	0.0035	0.0050	0.0048	0.0013	0.0263	0.0042	0.0020	0.0002	0.0051	0	0.0055	0.0043	0.0006	0.227	0.18498	T	0.173	0.30143	T	0.997	0.70673	D	0.788	0.57636	P	0.000001	0.62929	U	0.000000	0.854069	0.35272	D	2.3	0.65703	M	0.23	0.59717	T	-0.39	0.13611	N	0.224	0.25130	-0.7772	0.56459	T	0.191	0.54286	T	10	0.0080269575	0.00182	T	0.011267	0.28723	T	0.133	0.36157	.	.	0.438170831126	0.43439	0.5470940459472768	0.54635	0.0468457703428	0.05097	0.419090300798	0.27712	T	6.97E-4	0.00312	T	-0.406153	0.02109	T	-0.351762	0.39003	T	0.00809893818084221	0.00096	T	0.865513	0.56452	D	0.10971512	0.25937	0.08749443	0.20340	0.10971512	0.25937	0.08749443	0.20339	-8.17	0.62223	D	.	.	0.120	0.24633	B	.	.	3.671336	0.52203	23.2	0.99821895945213046	0.90502	0.97464	0.74918	D	AEFDGBI	0.427633	0.49150	N	0.413363984766932	0.62155	4.427039	0.419766790136978	0.62799	4.501385	0.999735327477693	0.42341	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.04	0.67293	4.640000	0.61065	5.866000	0.50483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.9313:0.0:0.0687	14.819	0.69684	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	795.33	34	chr3	41789798	.	C	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.05;DP=731;ExcessHet=0;FS=0.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.672;SOR=0.538	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr3	41907856	41907856	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon11:c.C265T:p.P89S,ULK4:NM_001322500:exon12:c.C1171T:p.P391S,ULK4:NM_017886:exon12:c.C1171T:p.P391S	.	438	1063	21	0	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0052	0.00199681	0.0036	0.0010	0.0020	0.0001	0.0011	0.0056	0.0057	0.0010	0.0037645	582	154602	rs184541140	0.0048	0.0048	0.0048	0.0047	0.0056	0.0047	0.0046	0.0055	0.0055	0.0007	0.0026	0.0010	0	0.0017	0.0041	0.0056	0.0045	0.0010	0.0041	0.0041	0.0047	0.0034	0.0069	0.0038	0.0037	0.0064	0.0062	0.0013	0	0.0035	0.0009	0	0.0025	0.0170	0.0069	0.0028	0.0010	0.582	0.05954	T	0.739	0.05000	T	0.013	0.16609	B	0.007	0.12992	B	0.180798	0.17108	N	0.637398	0.526933	0.31943	D	1.8	0.47472	L	0.66	0.64630	T	-0.55	0.20576	N	0.109	0.18512	-1.0464	0.15418	T	0.081	0.32031	T	10	0.0039798915	0.00077	T	.	.	.	0.061	0.17616	.	.	0.429091045357	0.42525	0.35750256836678257	0.35664	0.0361349943124	0.03815	0.299195349216	0.10281	T	0.002107	0.12263	T	-0.517535	0.00455	T	-0.511053	0.21208	T	0.00483710736998527	0.00052	T	0.693931	0.30359	T	0.047248695	0.08045	0.060743336	0.11619	0.04473377	0.07202	0.053627197	0.09068	-2.664	0.07006	T	.	.	0.072	0.04198	B	.;.	.;.	1.862649	0.23660	16.10	0.96882864762041909	0.31465	0.41737	0.26723	N	ALL	0.095910	0.19371	N	-0.369413803255449	0.26565	1.450765	-0.155766020014808	0.33188	1.895802	0.999954336430192	0.48110	0.615465	0.37627	0	0.593476	0.48661	0	0.658983	0.55881	0	0.649648	0.60094	0	.	.	5.68	3.79	0.42757	0.361000	0.20003	1.656000	0.27872	0.676000	0.76740	0.937000	0.32526	1.000000	0.68203	0.974000	0.55675	0.0808:0.1443:0.7748:0.0	9.692	0.39299	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	517.33	34	chr3	41907856	.	G	A	517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=689;ExcessHet=0;FS=1.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.63;SOR=0.859	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1190	18	0	1	0
chr3	42202459	42202459	C	T	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon12:c.C1229T:p.P410L,TRAK1:NM_001265610:exon12:c.C1229T:p.P410L,TRAK1:NM_001349248:exon12:c.C1229T:p.P410L,TRAK1:NM_001349249:exon12:c.C1229T:p.P410L,TRAK1:NM_014965:exon12:c.C1277T:p.P426L,TRAK1:NM_001042646:exon13:c.C1451T:p.P484L,TRAK1:NM_001265608:exon13:c.C1451T:p.P484L,TRAK1:NM_001349245:exon13:c.C1139T:p.P380L,TRAK1:NM_001349246:exon13:c.C1451T:p.P484L,TRAK1:NM_001349247:exon13:c.C1451T:p.P484L	.	428	1093	1	0	0	1	0.000457247	.	.	.	734061	not_provided|TRAK1-related_disorder|Developmental_and_epileptic_encephalopathy,_68|Inborn_genetic_diseases	MedGen:C3661900|.|MONDO:MONDO:0032598,MedGen:C4748688,OMIM:618201|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0214983699705	0.0009	0.00139776	0.0005	0.0044	0.0005	0	0	4.85e-05	0	0	0.000414	64	154602	rs138190882	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0006	0	0	0	0.0026	6.873e-05	0.0004	1.539e-05	0.0009	0.0009	0.0008	0.0010	0.0029	0.0008	0.0007	0.0024	0.0023	0.0029	0	0.0005	0	0	0	0	0.0001	0.0009	0	0.416	0.10980	T	0.645	0.12993	T	0.207	0.40281	B	0.065	0.28435	B	0.000002	0.62929	N	0.058716	0.999981	0.54805	D	0.285	0.10073	N	1.12	0.38718	T	-1.33	0.40082	N	0.375	0.47487	-1.1258	0.01994	T	0.064	0.26456	T	10	0.0070628524	0.00161	T	0.021498	0.44277	T	0.103	0.29403	.	.	0.594028420653	0.59081	0.5469960512660359	0.54625	0.278022119108	0.30289	0.527930498123	0.42742	T	0.090191	0.48710	T	-0.49552	0.00606	T	-0.485713	0.23842	T	0.0169836126755125	0.00448	T	0.806719	0.57909	T	0.06630631	0.14253	0.059661146	0.11235	0.06630631	0.14253	0.059661146	0.11234	-9.203	0.71919	D	.	.	0.068	0.14015	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.655283	0.34581	19.67	0.84964378638929039	0.15603	0.97991	0.78693	D	AEFDBI	0.366760	0.45446	N	-0.595769230371959	0.19073	0.9953442	-0.432554744788787	0.24048	1.314724	0.999993887110624	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	4.877000	0.62779	4.886000	0.45715	-0.172000	0.11096	1.000000	0.71638	0.998000	0.33993	0.205000	0.22041	0.0:0.9342:0.0:0.0658	17.392	0.87325	688	0.59122	Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2936.33	91	chr3	42202459	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1032;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.241;SOR=0.66	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr3	42202465	42202465	C	T	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon12:c.C1235T:p.T412M,TRAK1:NM_001265610:exon12:c.C1235T:p.T412M,TRAK1:NM_001349248:exon12:c.C1235T:p.T412M,TRAK1:NM_001349249:exon12:c.C1235T:p.T412M,TRAK1:NM_014965:exon12:c.C1283T:p.T428M,TRAK1:NM_001042646:exon13:c.C1457T:p.T486M,TRAK1:NM_001265608:exon13:c.C1457T:p.T486M,TRAK1:NM_001349245:exon13:c.C1145T:p.T382M,TRAK1:NM_001349246:exon13:c.C1457T:p.T486M,TRAK1:NM_001349247:exon13:c.C1457T:p.T486M	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0245243764735	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs536156969	1.948e-05	2.052e-05	1.755e-05	2.151e-05	0.0018	1.355e-05	1.151e-05	0.0008	0.0006	3.385e-05	0	5.209e-05	0	0	0.0018	4.775e-06	3.662e-05	0.0002	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0004	2.108e-05	1.526e-05	6.847e-05	2.865e-05	0	0	0.0001	0	0.0004	0	0	4.41e-05	0	0	0.114	0.39334	T	0.11	0.43721	T	1.0	0.90584	D	0.987	0.88582	D	0.000000	0.84330	D	0.000000	0.998	0.43943	D	2.215	0.62545	M	0.8	0.48769	T	-0.75	0.26843	N	0.633	0.68690	-0.7141	0.59751	T	0.256	0.62620	T	10	0.27059925	0.44592	T	0.024524	0.47518	T	0.208	0.49714	0.114	0.02306	0.819614843764	0.81791	0.5888162179159341	0.58811	0.920855412777	0.71446	0.635645568371	0.57946	T	0.071018	0.43822	T	-0.053028	0.43986	T	-0.128675	0.61084	T	0.776523530483246	0.44835	D	0.879712	0.65680	D	0.10844947	0.25642	0.11711628	0.28273	0.10844947	0.25642	0.11711628	0.28273	-9.583	0.84724	D	.	.	0.078	0.13268	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.079357	0.84758	28.4	0.99888980182896869	0.96359	0.98739	0.86233	D	AEFDBI	0.523326	0.54697	D	0.670879349378651	0.77723	6.73027	0.693478591298929	0.81884	7.632047	0.999999893884243	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.907000	0.69646	5.927000	0.51257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	19.381	0.94526	688	0.59122	Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2383.33	91	chr3	42202465	.	C	T	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1036;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.004;SOR=0.717	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R,TRAK1:NM_001349249:exon15:c.C2126G:p.P709R,TRAK1:NM_001042646:exon16:c.C2348G:p.P783R,TRAK1:NM_001349245:exon16:c.C1973G:p.P658R,TRAK1:NM_001349246:exon16:c.C2285G:p.P762R	.	421	1082	19	0	0	19	0.00870362	.	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.010101	0.019022	0.002924	0.000000	0.025862	0.012195	0.022727	0.02632	2287.33	59	chr3	42223223	.	C	G	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.71;DP=965;ExcessHet=0;FS=0.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.032;SOR=0.698	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr3	42502805	42502805	G	C	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251884:exon1:c.G35C:p.W12S,VIPR1:NM_004624:exon1:c.G70C:p.G24R	.	2	223	1	0	0	1	0.00223714	.	.	.	3929645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0533436385292	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs765645789	4.393e-05	6.909e-05	4.633e-05	4.13e-05	0.0014	3.362e-05	3.029e-05	0.0011	0.0009	4.341e-05	0	0	0	0	0	0	0.0001	0.0014	3.942e-05	3.938e-05	2.571e-05	5.375e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.155	0.24183	T	0.075	0.42794	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.21009	N	.	.	.	0.84	0.47477	T	-0.16	0.09460	N	0.16	0.16725	-1.0026	0.29168	T	0.039	0.16677	T	9	0.03774804	0.02148	T	0.053344	0.65431	D	0.035	0.08770	0.579	0.70476	0.225215365344	0.22153	0.32451825547543905	0.32364	0.103416740195	0.11694	0.682860374451	0.64680	T	0.139416	0.47342	T	-0.204645	0.20139	T	-0.531735	0.19113	T	0.0353313740206733	0.02865	T	0.578142	0.20837	T	0.051326316	0.09410	0.059804842	0.11287	0.051326316	0.09410	0.059804842	0.11286	-3.94	0.22903	T	.	.	0.223	0.45396	B	.;.	.;.	0.999123	0.13776	10.32	0.63182828108481648	0.07156	0.08756	0.14638	N	AEFDBHCI	0.069529	0.13765	N	-1.42774742561413	0.02397	0.1058234	-1.42527525840742	0.03001	0.1391771	0.999999996924712	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.88	-1.79	0.07504	0.150000	0.16082	1.149000	0.24466	-0.178000	0.10482	0.177000	0.24026	0.780000	0.26771	0.224000	0.22571	0.2577:0.2923:0.4501:0.0	4.969	0.13454	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.23	2	chr3	42502805	.	G	C	65.23	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0;DP=118;ExcessHet=0;FS=0;InbreedingCoeff=-0.0592;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,148:.	17	0	1	1
chr3	42502806	42502806	G	T	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251884:exon1:c.G36T:p.W12C,VIPR1:NM_004624:exon1:c.G71T:p.G24V	.	2	223	1	0	0	1	0.00223714	.	.	.	3929646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.258486533311	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs750829637	4.573e-05	7.935e-05	4.805e-05	4.318e-05	0.0015	3.534e-05	3.195e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0001	0.0015	5.255e-05	5.25e-05	2.57e-05	8.063e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.242	0.17584	T	0.013	0.63109	D	0.281	0.32101	B	0.077	0.28532	B	.	.	.	.	0.999997	0.23342	N	.	.	.	0.84	0.47477	T	0.08	0.06026	N	0.198	0.21839	-1.0385	0.17771	T	0.061	0.25346	T	9	0.07235536	0.10790	T	0.258487	0.89410	D	0.114	0.32008	0.535	0.64439	0.350088858571	0.34617	0.3282892880108024	0.32741	0.177515370142	0.19969	0.653833150864	0.60530	T	0.149214	0.48812	T	-0.130626	0.31395	T	-0.425412	0.30456	T	0.158363953511287	0.17750	T	0.586841	0.21439	T	0.07024234	0.15454	0.09196498	0.21649	0.07024234	0.15453	0.09196498	0.21649	-4.49	0.30757	T	.	.	0.122	0.25592	B	.;.	.;.	2.518550	0.32539	19.07	0.76021053930178317	0.11302	0.30437	0.24082	N	AEFDBHCI	0.186764	0.31407	N	-0.632204089108521	0.17983	0.9299757	-0.607957250085612	0.19288	1.034198	0.999999999161873	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.88	2.89	0.32713	2.755000	0.47219	5.275000	0.48164	0.654000	0.53741	0.236000	0.24706	0.999000	0.35428	0.202000	0.21954	0.0:0.2365:0.7635:0.0	8.615	0.32990	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.2	2	chr3	42502806	.	G	T	65.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0;DP=119;ExcessHet=0;FS=0;InbreedingCoeff=-0.0578;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,148:.	17	0	1	1
chr3	42536241	42536241	G	T	exonic	VIPR1	.	nonsynonymous SNV	VIPR1:NM_001251883:exon10:c.G704T:p.R235L,VIPR1:NM_001251884:exon12:c.G1190T:p.R397L,VIPR1:NM_001251885:exon13:c.G1253T:p.R418L,VIPR1:NM_004624:exon13:c.G1334T:p.R445L,VIPR1:NM_001251882:exon14:c.G1211T:p.R404L	.	.	.	.	.	.	.	.	.	.	.	708855	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	.	0.00978435	0.0057	0	0	0.0699	0	0.0003	0.0039	0.0020	0.0025097	388	154602	rs3733055	0.0012	0.0012	0.0012	0.0012	0.0368	0.0011	0.0011	0.0352	0.0345	0	2.402e-05	0.0006	0.0368	0.0001	0	1.634e-05	0.0017	0.0019	0.0016	0.0016	0.0014	0.0018	0.0428	0.0014	0.0014	0.0382	0.0364	0	0	6.533e-05	0.0003	0.0428	0	0	0	0.0028	0.0025	0.005	0.63226	D	0.075	0.47828	T	0.929	0.51690	P	0.726	0.55126	P	0.000070	0.52346	D	0.126842	1	0.81001	D	2.57	0.75187	M	0.78	0.58613	T	-2.12	0.51157	N	0.388	0.44570	-0.4922	0.68930	T	0.157	0.48891	T	10	0.0056530237	0.00125	T	.	.	.	0.154	0.40340	.	.	0.706318304701	0.70376	0.5577707014246107	0.55704	0.400445151667	0.41042	0.488855749369	0.37280	T	0.497417	0.81930	T	-0.297851	0.08864	T	-0.168484	0.57581	T	0.0803748810786736	0.10035	T	0.911709	0.68653	D	0.26316005	0.49380	0.28110278	0.54089	0.26316005	0.49380	0.28110278	0.54088	-9.406	0.72802	D	.	.	0.126	0.33133	B	.;.;.;.	.;.;.;.	4.938551	0.81482	27.6	0.99785355841041268	0.87131	0.96866	0.71365	D	AEFDBHCI	0.816515	0.73822	D	0.598622818941784	0.73088	5.909419	0.556936539378222	0.71881	5.722919	0.999999318147431	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	5.29	4.41	0.52588	4.773000	0.62025	6.554000	0.55920	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.530000	0.29707	0.0764:0.0:0.9236:0.0	13.318	0.59853	784	0.47045	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000507	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	651.33	37	chr3	42536241	.	G	T	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=654;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.147;SOR=0.77	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1088	18	0	1	0
chr3	42685820	42685820	C	G	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon1:c.C202G:p.R68G	Nemaline myopathy 8, autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0365068757995	.	.	1.742e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771098609	2.739e-06	2.736e-06	0	5.505e-06	4.639e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.639e-05	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.175	0.22400	T	0.075	0.42794	T	0.001	0.07471	B	0.001	0.04355	B	0.934554	0.08396	N	0.969671	0.99944	0.21199	N	-0.495	0.02627	N	-0.21	0.66294	T	-1.87	0.43717	N	0.085	0.06190	-0.9683	0.37551	T	0.088	0.34050	T	10	0.10285765	0.18876	T	0.036507	0.57034	D	0.196	0.47777	0.623	0.75803	0.143124449307	0.13826	0.47903360002961326	0.47823	0.842300171656	0.68125	0.329316020012	0.14830	T	0.24819	0.61795	T	-0.322617	0.06685	T	-0.600563	0.12765	T	0.0381032497010063	0.03350	T	0.235276	0.03258	T	0.06349709	0.13375	0.098628506	0.23520	0.06349709	0.13375	0.098628506	0.23519	-2.183	0.03959	T	0.08327712177457239	0.04482	0.056	0.00505	B	.	.	-0.374157	0.02310	0.245	0.69655109701440043	0.09042	0.18377	0.20235	N	AEFDBI	0.092143	0.18658	N	-1.42362988390406	0.02432	0.1073994	-1.43816780286095	0.02879	0.1332612	0.999999987568957	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.13	-8.75	0.00721	0.311000	0.19129	-4.293000	0.02233	-0.100000	0.15956	0.831000	0.30147	0.000000	0.08366	0.075000	0.16954	0.2145:0.4674:0.3181:0.0	9.447	0.37867	358	0.85037	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2760.33	36	chr3	42685820	.	C	G	2760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.947;DP=840;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.76;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr3	42686231	42686231	G	T	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon1:c.G613T:p.G205C	Nemaline myopathy 8, autosomal recessive	.	.	.	.	.	.	.	.	.	.	631411	Nemaline_myopathy_8	MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.432	0.424512133408	.	.	0.0004	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs746095931	9.839e-05	0.0001	6.339e-05	0.0001	0.0016	8.477e-05	7.973e-05	0.0014	0.0013	3.101e-05	0	0	0	0	0	9.224e-07	8.614e-05	0.0016	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.041	0.41915	D	0.154	0.32040	T	1.0	0.90584	D	0.99	0.78936	D	0.000416	0.44736	D	0.226754	0.955064	0.37907	D	0.69	0.16971	N	-0.6	0.71662	T	-0.81	0.22294	N	0.414	0.45426	-0.1660	0.78525	T	0.420	0.76570	T	10	0.13030007	0.24798	T	0.424512	0.93860	D	0.432	0.73807	0.592	0.72123	0.774958753016	0.77289	0.5501635544450104	0.54942	1.72006505206	0.90558	0.583057761192	0.50516	T	0.091722	0.38854	T	-0.315621	0.07263	T	-0.245158	0.50292	T	0.212696206987846	0.21093	T	0.707729	0.31835	T	0.23965622	0.46858	0.18899539	0.42220	0.2485431	0.47842	0.21478732	0.46041	-6.056	0.46745	T	.	.	0.196	0.41828	B	.	.	5.184566	0.86933	29.1	0.99615012507238321	0.75052	0.98665	0.85319	D	AEFDBI	0.835097	0.75305	D	0.325033376072643	0.57437	3.910923	0.266753280506642	0.53608	3.528955	0.999999987041243	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.56	3.67	0.41236	4.892000	0.62883	7.384000	0.58471	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.1974:0.8026:0.0	10.450	0.43704	358	0.85037	BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002546	0.000000	0.002725	0.000000	0.000000	0.000000	0.006289	0.003846	0.05263	2668.81	36	chr3	42686231	.	G	T	2668.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.78;SOR=1.207	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	1	0	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I	Nemaline myopathy 8, autosomal recessive	418	1070	32	2	0	36	0.0165441	.	.	.	251129	not_provided|Nemaline_myopathy_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.005435	0.011696	0.000000	0.000000	0.009202	0.015152	0.02632	1007.33	39	chr3	42690989	.	C	A	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.828;DP=721;ExcessHet=0;FS=3.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.386;SOR=0.367	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	18	0	1	0
chr3	42699048	42699048	G	A	exonic	HHATL	.	nonsynonymous SNV	HHATL:NM_020707:exon4:c.C272T:p.T91M	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0499675344458	.	0.000599042	0.0001	0	0	0.0015	0	0	0.0022	0.0001	0.0001358	21	154602	rs61739734	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.767e-05	0.0016	0.0014	5.974e-05	0	3.826e-05	0.0019	0	0.0009	5.306e-05	0.0002	0.0002	0.0001	0.0001	5.138e-05	0.0002	0.0021	8.162e-05	6.719e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	8.82e-05	0	0.0004	0.004	0.65419	D	0.003	0.76473	D	0.952	0.54136	P	0.186	0.36104	B	0.003784	0.34487	N	0.316615	0.99999	0.58761	D	1.445	0.36358	L	2.21	0.86549	T	-1.46	0.57110	N	0.461	0.49874	-0.1585	0.78708	T	0.434	0.77504	T	10	0.0418863	0.02885	T	0.049968	0.64040	D	0.181	0.45247	.	.	0.796913402319	0.79502	0.48007255572469754	0.47927	0.519238787512	0.49752	0.582083106041	0.50378	T	0.03829	0.27785	T	-0.242647	0.15013	T	-0.145949	0.59600	T	0.113800369394138	0.13813	T	0.955704	0.86510	D	0.09492799	0.22329	0.15150467	0.35685	0.09492799	0.22329	0.15150467	0.35684	-5.363	0.40562	T	.	.	0.139	0.45470	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.882078	0.56424	23.7	0.99779879063723986	0.86693	0.90880	0.52436	D	AEFDBHCI	0.941570	0.94501	D	0.312585275534194	0.56793	3.844772	0.399264288477608	0.61520	4.353191	0.999999999985017	0.74766	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	9.886000	0.98550	8.433000	0.77176	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:1.0:0.0	18.528	0.90933	406	0.82375	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1915.33	44	chr3	42699048	.	G	A	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=766;ExcessHet=0;FS=3.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.027;SOR=0.466	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	18	0	1	0
chr3	42914407	42914407	T	G	exonic	ZNF662	.	nonsynonymous SNV	ZNF662:NM_001134656:exon4:c.T412G:p.S138A,ZNF662:NM_207404:exon5:c.T334G:p.S112A	.	425	1090	7	0	0	7	0.00320073	.	.	.	2827308	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00765343810189	0.0018	0.000599042	0.0019	0.0005	0.0013	0	0.0014	0.0021	0.0011	0.0039	0.0020569	318	154602	rs149596515	0.0025	0.0025	0.0025	0.0026	0.0029	0.0025	0.0024	0.0028	0.0027	0.0003	0.0014	0.0003	0	0.0007	0.0024	0.0029	0.0025	0.0029	0.0019	0.0020	0.0020	0.0019	0.0034	0.0018	0.0017	0.0030	0.0029	0.0004	0	0.0016	0.0003	0	0.0002	0.0068	0.0034	0.0033	0.0027	0.231	0.18246	T	0.714	0.07220	T	0.231	0.30614	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	0.64	0.52867	T	-0.74	0.20791	N	0.149	0.21319	-1.0341	0.19141	T	0.075	0.30055	T	9	0.004776776	0.00101	T	0.007653	0.20299	T	0.018	0.03083	.	.	0.529161192476	0.52563	0.05169968579732348	0.05111	0.0510955764814	0.05625	0.365413248539	0.20171	T	0.00831	0.07636	T	-0.518119	0.00451	T	-0.518174	0.20480	T	0.00766812092723879	0.00089	T	0.492351	0.15167	T	0.05923834	0.12014	0.03759628	0.03447	0.05923834	0.12014	0.03759628	0.03447	-4.721	0.33657	T	.	.	0.102	0.17995	B	.;.	.;.	1.027465	0.14072	10.64	0.69761514520715495	0.09076	0.00415	0.02058	N	AEFBCI	0.089980	0.18236	N	-0.83406891995665	0.12446	0.6066866	-0.889067855517039	0.12352	0.6348957	0.999702336949515	0.41986	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	2.93	1.76	0.23776	0.002000	0.12962	-0.036000	0.12731	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.2365:0.1374:0.0:0.626	2.456	0.04253	628	0.65206	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1160.33	34	chr3	42914407	.	T	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.336;SOR=0.737	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr3	43691018	43691018	A	G	exonic	ABHD5	.	nonsynonymous SNV	ABHD5:NM_001355186:exon1:c.A26G:p.D9G,ABHD5:NM_001365650:exon1:c.A26G:p.D9G,ABHD5:NM_016006:exon1:c.A26G:p.D9G	Chanarin-Dorfman syndrome, Autosomal recessive	1	1507	14	0	0	14	0.00462351	.	.	.	290374	Inborn_genetic_diseases|not_provided|Triglyceride_storage_disease_with_ichthyosis|ABHD5-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.303	0.190875716616	0.0004	0.00139776	0.0008	0.0001	9.381e-05	0	0	0.0005	0.0068	0.0034	0.000705	109	154602	rs144420157	0.0006	0.0006	0.0005	0.0008	0.0040	0.0006	0.0006	0.0037	0.0035	6.85e-05	5.104e-05	0	0	3.978e-05	0.0036	0.0004	0.0009	0.0040	0.0004	0.0004	0.0003	0.0006	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0.0001	0	0	0	0.0034	0.0006	0.0014	0.0027	0.073	0.34800	T	0.221	0.25827	T	0.039	0.21116	B	0.01	0.14941	B	0.169348	0.03098	N	1.607600	0.999914	0.19599	N	0.805	0.20218	L	-1.09	0.77206	T	-0.53	0.16393	N	0.265	0.30004	-0.8406	0.52607	T	0.276	0.64804	T	10	0.007172376	0.00163	T	0.190876	0.86150	D	0.303	0.62400	.	.	0.707991828018	0.70544	0.5032814447181239	0.50250	0.194151377078	0.21749	0.688348174095	0.65468	T	0.177016	0.52716	T	-0.231002	0.16518	T	-0.105433	0.62973	T	0.00758662155697759	0.00088	T	0.553645	0.19140	T	0.143814	0.33037	0.21795222	0.46480	0.143814	0.33037	0.21795222	0.46479	-2.501	0.05788	T	.	.	0.067	0.04640	B	.;.	.;.	2.543447	0.32903	19.18	0.80954980608822802	0.13449	0.47895	0.28085	N	ALL	0.116016	0.22787	N	-0.800202490282737	0.13305	0.6545094	-0.813694365021125	0.14164	0.7386812	0.999999999999999	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.02	1.81	0.24139	0.368000	0.20132	5.361000	0.48400	0.752000	0.88150	0.003000	0.16062	1.000000	0.68203	0.012000	0.09680	0.7377:0.2623:0.0:0.0	6.168	0.19617	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005595	0.005208	0.005435	0.008772	0.000000	0.017241	0.006289	0.000000	0.02632	493.33	27	chr3	43691018	.	A	G	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.638;DP=664;ExcessHet=0;FS=6.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.07;SOR=0.683	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1139	18	0	1	0
chr3	44447422	44447422	T	A	exonic	ZNF445	.	nonsynonymous SNV	ZNF445:NM_001369454:exon7:c.A2213T:p.Q738L,ZNF445:NM_181489:exon8:c.A2249T:p.Q750L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.01088048006	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs752800002	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.03402	T	0.401	0.14961	T	0.118	0.26577	B	0.037	0.23121	B	0.265270	0.15234	N	0.552822	1	0.08975	N	0.29	0.10111	N	3.28	0.06523	T	-0.54	0.16598	N	0.323	0.36359	-0.9059	0.47343	T	0.009	0.03183	T	10	0.056465715	0.06334	T	0.01088	0.27915	T	0.026	0.05648	0.385	0.40460	0.337439445736	0.33357	0.2690212344669273	0.26815	0.253544675859	0.27924	0.250206112862	0.03789	T	0.004	0.03512	T	-0.314254	0.07379	T	-0.592327	0.13465	T	0.0317784400162246	0.02271	T	.	.	.	0.024374453	0.01263	0.029745612	0.01347	0.024374453	0.01263	0.029745612	0.01347	-2.847	0.08624	T	.	.	0.101	0.20391	B	.;.	.;.	1.005683	0.13845	10.40	0.5453616111105295	0.05157	0.01231	0.04354	N	AEFDBCI	0.044485	0.07162	N	-1.08308696649813	0.06954	0.3216553	-1.059830109981	0.08503	0.418399	0.712833792382851	0.22840	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.49	0.795	0.17786	0.364000	0.20053	-0.080000	0.12189	-0.245000	0.07249	0.002000	0.15269	0.000000	0.08366	0.690000	0.33838	0.0:0.0:0.4224:0.5775	10.127	0.41832	288	0.88579	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1804.33	36	chr3	44447422	.	T	A	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=754;ExcessHet=0;FS=5.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.097;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	18	0	1	0
chr3	44499890	44499890	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A887G:p.K296R	.	313	1207	2	0	0	2	0.000827815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0292031119403	.	.	4.209e-05	0	0	0	0	4.576e-05	0	0.0001	3.88e-05	6	154602	rs766164160	3.629e-05	3.625e-05	3.271e-05	3.992e-05	0.0009	2.831e-05	2.567e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.248e-05	0.0001	0.0002	4.596e-05	4.593e-05	2.57e-05	6.713e-05	6.535e-05	2.108e-05	1.526e-05	7.97e-06	2.98e-06	4.81e-05	0	6.535e-05	0	0	0	0.0068	1.47e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999817	0.20249	N	.	.	.	2.07	0.20387	T	-1.27	0.31981	N	0.21	0.23380	-1.0676	0.09948	T	0.090	0.34546	T	8	0.1514915	0.28633	T	0.029203	0.51759	D	0.119	0.33137	.	.	0.0884992946249	0.08302	0.004797649383568562	0.00451	0.118245638541	0.13311	0.327452600002	0.14550	T	0.036219	0.24020	T	-0.429087	0.01501	T	-0.617462	0.11384	T	0.320841978226978	0.25856	T	.	.	.	0.16653526	0.36995	0.21492383	0.46062	0.16653526	0.36994	0.21492383	0.46061	-5.508	0.41942	T	.	.	0.081	0.08081	B	.	.	3.700914	0.52779	23.3	0.9979834492135522	0.88372	0.44271	0.27281	N	AEFBHCI	0.625255	0.60852	D	0.149883936041625	0.48808	3.088431	0.0860990869377003	0.43846	2.678152	0.34742034164557	0.19647	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	3.38	3.38	0.37806	4.680000	0.61346	1.484000	0.26842	0.609000	0.47794	1.000000	0.71638	0.039000	0.21534	0.762000	0.36218	0.0:0.0:0.0:1.0	11.486	0.49604	323	0.86843	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4255.81	41	chr3	44499890	.	T	C	4255.81	.	AC=2;AF=0.053;AN=38;DP=937;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.18;SOR=0.736	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	1	0	0
chr3	44500301	44500301	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A476G:p.Y159C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0120677420276	.	.	2.511e-05	0	0	0	0	4.565e-05	0	0	1.94e-05	3	154602	rs775843252	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0024	8.31e-06	6.7e-06	0.0015	0.0012	2.987e-05	0	0	0	0	0.0024	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.37230	T	-6.13	0.90100	D	0.238	0.26837	-1.0085	0.27385	T	0.070	0.28609	T	8	0.15161651	0.28655	T	0.012068	0.30309	T	0.044	0.11924	.	.	0.345405024496	0.34151	0.02116559798389852	0.02069	0.0267389081646	0.02732	0.406017869711	0.25905	T	0.132882	0.46324	T	-0.219896	0.18007	T	-0.553642	0.16978	T	0.111309299021064	0.13559	T	.	.	.	0.18092687	0.39238	0.2509347	0.50695	0.18092687	0.39237	0.2509347	0.50694	-7.601	0.58318	D	.	.	0.304	0.53293	B	.;.	.;.	1.587123	0.20305	14.69	0.87476883987597753	0.17255	0.05361	0.11221	N	AEFBCI	0.135076	0.25530	N	-0.628381854553684	0.18095	0.9367146	-0.754098515412646	0.15622	0.8225097	0.00287857700595568	0.09767	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.27	2.08	0.26079	-0.712000	0.05116	-0.315000	0.10009	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.1898:0.1138:0.0:0.6964	3.741	0.08055	323	0.86843	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2575.33	41	chr3	44500301	.	T	C	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=915;ExcessHet=0;FS=8.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.316;SOR=0.466	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr3	44594390	44594390	C	T	exonic	ZNF660	.	nonsynonymous SNV	ZNF660:NM_173658:exon3:c.C197T:p.T66I	.	355	1165	2	0	0	2	0.000857633	.	.	.	3927900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00369807080297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245055182	6.156e-06	6.156e-06	8.167e-06	4.125e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	4.637e-05	0	6.581e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.985	0.02393	T	0.004	0.12183	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	3.17	0.07599	T	0.66	0.02297	N	0.096	0.07673	-0.9222	0.45252	T	0.013	0.04938	T	8	0.03369856	0.01553	T	0.003698	0.08558	T	0.064	0.18567	0.339	0.32979	0.0297737177859	0.01360	0.023939676479290718	0.02344	0.0536122395253	0.05918	0.416641622782	0.27375	T	0.010096	0.09146	T	-0.268975	0.11871	T	-0.624141	0.10863	T	0.025038990184468	0.01278	T	.	.	.	0.03706288	0.04679	0.048624445	0.07261	0.03706288	0.04679	0.048624445	0.07261	-3.206	0.12554	T	.	.	0.198	0.41992	B	.	.	0.609669	0.09781	6.547	0.80057114386106787	0.13025	0.10583	0.16049	N	AEFBCI	0.080661	0.16313	N	-0.871349618923551	0.11528	0.5567928	-0.839742314023742	0.13534	0.7026316	0.00273332911239554	0.09669	0.638212	0.43195	0	0.670034	0.63936	0	0.575934	0.27490	0	0.620846	0.47308	0	.	.	4.46	0.665	0.17066	-0.739000	0.04971	-0.078000	0.12213	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.0:0.5701:0.0:0.4299	8.111	0.30078	326	0.86709	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1587.33	33	chr3	44594390	.	C	T	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.139;DP=749;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.255;SOR=0.818	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,112,1424	18	0	1	0
chr3	44641962	44641962	G	C	exonic	ZNF197;ZNF660-ZNF197	.	nonsynonymous SNV	ZNF197:NM_001323296:exon5:c.G193C:p.D65H,ZNF197:NM_001323293:exon6:c.G832C:p.D278H,ZNF197:NM_006991:exon6:c.G832C:p.D278H,ZNF197:NM_001323295:exon7:c.G223C:p.D75H,ZNF660-ZNF197:NM_001351732:exon7:c.G832C:p.D278H,ZNF660-ZNF197:NM_001351733:exon7:c.G832C:p.D278H	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00793395599834	0.0026	0.000998403	0.0023	0.0008	0.0003	0	0.0008	0.0039	0.0012	6.757e-05	0.0021798	337	154602	rs148794995	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0004	0.0010	0.0010	0	0.0005	0.0010	0.0033	0.0020	3.486e-05	0.0018	0.0018	0.0019	0.0016	0.0027	0.0016	0.0015	0.0024	0.0023	0.0010	0	0.0015	0.0017	0	0.0006	0.0136	0.0027	0.0024	0.0004	0.597	0.05686	T	0.145	0.33000	T	0.994	0.66517	D	0.707	0.54387	P	0.057419	0.22483	N	0.223039	1	0.81001	D	0.69	0.16971	N	3.3	0.06368	T	-1.46	0.35792	N	0.392	0.43320	-0.9850	0.33832	T	0.015	0.05994	T	10	0.008803248	0.00199	T	0.007934	0.21033	T	0.067	0.19503	.	.	0.505211317368	0.50158	0.1247322050210679	0.12399	0.561683472197	0.52667	0.364371597767	0.20021	T	0.059519	0.31138	T	-0.574793	0.00207	T	-0.600216	0.12794	T	0.0266565248820667	0.01496	T	.	.	.	0.06396473	0.13522	0.05837907	0.10776	0.06396473	0.13522	0.05837907	0.10776	-4.552	0.31563	T	.	.	0.101	0.20857	B	.;.	.;.	3.454564	0.48119	22.6	0.98848374629935487	0.47254	0.06284	0.12277	N	AEFBCI	0.179830	0.30712	N	-0.00520636012048688	0.41619	2.492663	-0.00173339953684026	0.39638	2.353234	0.0236431733450834	0.13522	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.4	3.53	0.39533	1.215000	0.32035	4.907000	0.45915	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.998000	0.85391	0.2053:0.0:0.7947:0.0	6.874	0.23319	326	0.86709	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	570.33	34	chr3	44641962	.	G	C	570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=678;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.739;SOR=0.982	GT:AD:DP:GQ:PL	0/1:42,25:67:99:584,0,1150	18	0	1	0
chr3	44838281	44838281	A	G	exonic	KIF15	.	nonsynonymous SNV	KIF15:NM_020242:exon27:c.A3178G:p.M1060V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00670379049941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	0	2.76e-06	9.008e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.008e-07	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.439	0.27855	T	0.001	0.07471	B	0.0	0.01387	B	0.000006	0.62929	D	0.000000	0.859172	0.29901	N	1.97	0.53315	M	1.06	0.39781	T	-0.6	0.19933	N	0.324	0.36464	-1.0359	0.18575	T	0.065	0.27017	T	10	0.1056335	0.19534	T	0.006704	0.17699	T	0.111	0.31313	0.289	0.24921	0.243972157842	0.24002	0.17655980995752105	0.17574	0.213234750306	0.23835	0.544515192509	0.45084	T	0.005931	0.05373	T	-0.118037	0.33445	T	-0.407328	0.32535	T	0.313508033752441	0.25557	T	.	.	.	0.08292267	0.19124	0.14568926	0.34544	0.08292267	0.19124	0.14568926	0.34543	-2.861	0.08759	T	.	.	0.142	0.43144	B	.;.	.;.	2.343347	0.30033	18.31	0.91343086733750889	0.20606	0.88393	0.48300	D	AEFBI	0.256892	0.37572	N	-0.221430616473445	0.32255	1.817122	-0.0108009873473681	0.39225	2.322588	0.905658501533402	0.26210	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.26	5.26	0.73479	2.871000	0.48157	11.169000	0.87908	0.729000	0.85517	0.987000	0.36337	1.000000	0.68203	0.991000	0.66497	0.8375:0.1625:0.0:0.0	10.469	0.43813	301	0.87912	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	34	chr3	44838281	.	A	G	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=705;ExcessHet=0;FS=1.824;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.074;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	18	0	1	0
chr3	44893589	44893589	T	C	exonic	TGM4	.	nonsynonymous SNV	TGM4:NM_003241:exon5:c.T443C:p.F148S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.0248980037134	.	0.000998403	0.0005	0	0	0.0076	0	0	0	0	0.0004592	71	154602	rs146491241	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0057	0	2.237e-05	0	0.0066	0	0	3.598e-06	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0079	0.0002	0.0002	0.0060	0.0053	0	0	6.54e-05	0	0.0079	0	0	0	0	0	0.001	0.78490	D	0.004	0.74150	D	0.949	0.53761	P	0.642	0.52168	P	0.010814	0.29776	U	0.148250	0.918596	0.36611	D	2.255	0.64187	M	-2.43	0.88689	D	-6.11	0.90023	D	0.504	0.53620	0.312	0.87744	D	0.615	0.86401	D	10	0.019378632	0.00432	T	0.024898	0.47884	T	0.522	0.79704	.	.	0.939588796861	0.93895	0.4614179819358731	0.46059	0.524007859483	0.50104	0.454250156879	0.32524	T	0.448435	0.79032	T	-0.182937	0.23300	T	-0.0251652	0.68689	D	0.192082785059578	0.19966	T	.	.	.	0.37037674	0.58613	0.39198136	0.63955	0.37037674	0.58614	0.39198136	0.63955	-10.167	0.74905	D	.	.	0.573	0.67769	P	.	.	2.492344	0.32161	18.96	0.99663743025449647	0.78138	0.05775	0.11707	N	AEFDGBHI	0.044808	0.07256	N	-0.180277573309802	0.33956	1.932501	-0.422377980116764	0.24342	1.332429	0.999992594967781	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.32	2.32	0.27895	0.336000	0.19565	-0.329000	0.09904	0.502000	0.22824	0.061000	0.21800	0.001000	0.17328	0.212000	0.22240	0.2194:0.0:0.0:0.7806	6.400	0.20837	307	0.87649	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	35	chr3	44893589	.	T	C	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=766;ExcessHet=0;FS=8.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.254;SOR=1.405	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.05263	2102.83	34	chr3	44901672	.	G	A	2102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.378;DP=1094;ExcessHet=0.119;FS=1.136;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.03;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	17	0	2	0
chr3	44932942	44932942	T	C	exonic	ZDHHC3	.	nonsynonymous SNV	ZDHHC3:NM_001349376:exon6:c.A659G:p.H220R,ZDHHC3:NM_016598:exon6:c.A659G:p.H220R,ZDHHC3:NM_001349378:exon7:c.A437G:p.H146R	.	423	1066	32	1	0	34	0.0156971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0101	0.00798722	0.0071	0.0116	0.0080	0	0.0030	0.0086	0.0099	0.0027	0.0073026	1129	154602	rs147965604	0.0076	0.0076	0.0078	0.0075	0.0293	0.0075	0.0075	0.0257	0.0243	0.0135	0.0087	0.0190	5.038e-05	0.0029	0.0293	0.0078	0.0097	0.0028	0.0089	0.0089	0.0093	0.0086	0.0130	0.0085	0.0084	0.0121	0.0117	0.0130	0.0099	0.0095	0.0179	0.0002	0.0023	0.0476	0.0077	0.0133	0.0025	0.065	0.36310	T	0.44	0.13328	T	.	.	.	.	.	.	0.705819	0.10055	N	0.850968	1	0.08975	N	.	.	.	1.19	0.37578	T	-0.48	0.15379	N	0.311	0.35088	-1.0314	0.20002	T	0.026	0.11043	T	10	0.003359139	0.00058	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	.	.	0.633772817613	0.57261	0.343545198441	0.16967	T	.	.	.	-0.657484	0.00065	T	-0.706176	0.05494	T	0.00178245243419207	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	-3.03	0.10508	T	.	.	0.056	0.00436	B	.	.	-0.134882	0.03438	0.631	0.70780664795059445	0.09408	0.07641	0.13649	N	AEFDBI	0.071916	0.14335	N	-1.20182301635428	0.04973	0.2256664	-1.24089317232467	0.05268	0.2505639	0.987531395176155	0.31287	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.9	-1.89	0.07271	0.299000	0.18892	-6.439000	0.01398	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.523000	0.29544	0.1574:0.3711:0.0:0.4715	4.339	0.10541	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031219	0.025253	0.046196	0.049708	0.000000	0.034483	0.021341	0.000000	0.02632	1326.33	33	chr3	44932942	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=715;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.753;SOR=1.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	45547438	45547438	G	A	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon21:c.G2620A:p.E874K,LARS2:NM_015340:exon22:c.G2620A:p.E874K	Perrault syndrome 4, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	229092	Perrault_syndrome_4|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014126,MedGen:C3809105,OMIM:615300,Orphanet:2855|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00922629034206	7.7e-05	0.000399361	0.0003	0.0002	0.0002	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs142215302	0.0002	0.0002	0.0002	0.0002	0.0059	0.0002	0.0002	0.0043	0.0038	5.976e-05	0.0003	0	0	0	0.0059	0.0001	0.0004	0.0007	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	4.816e-05	0	0.0005	0	0	0	0	0.0002	0	0.0015	0.031	0.47320	D	0.054	0.48594	T	0.913	0.50474	P	0.121	0.32300	B	0.008166	0.30981	N	0.371923	0.587627	0.31047	N	1.87	0.49600	L	1.82	0.25018	T	-2.25	0.54702	N	0.332	0.56919	-0.9255	0.44786	T	0.050	0.21417	T	10	0.06568867	0.08898	T	0.009226	0.24249	T	0.095	0.27398	.	.	0.517158968016	0.51359	.	.	0.435120579737	0.43627	0.516972899437	0.41200	T	0.501504	0.82168	D	-0.346595	0.04945	T	-0.371473	0.36718	T	0.0744486916420353	0.09262	T	0.857914	0.54791	D	0.12538211	0.29394	0.15082322	0.35555	0.12538211	0.29394	0.15082322	0.35554	-7.983	0.60954	D	0.16135672937486548	0.19748	0.119	0.24430	B	.;.;.;.;.	.;.;.;.;.	3.791108	0.54572	23.5	0.99843258243071575	0.92316	0.87344	0.46855	D	AEFDBHCI	0.532583	0.55239	D	0.392459568396383	0.61014	4.296894	0.459788798870106	0.65347	4.812427	0.999999859613735	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	4.809000	0.62282	7.425000	0.58746	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0743:0.0:0.9257:0.0	12.897	0.57498	563	0.71062	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	1258.33	33	chr3	45547438	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.66;DP=694;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=-0.462;SOR=0.886	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1270	18	0	1	0
chr3	45595343	45595343	C	T	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.C464T:p.A155V	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0068760914447	7.7e-05	.	4.184e-05	0.0004	0	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs371364321	1.848e-05	1.915e-05	1.498e-05	2.201e-05	0.0005	1.265e-05	1.085e-05	0.0003	0.0003	0.0005	0	0	0	0	0	3.597e-06	6.624e-05	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.544e-05	0	0	0	0	1.47e-05	0.0005	0	0.443	0.09182	T	0.425	0.13912	T	0.001	0.07471	B	0.001	0.04355	B	0.807245	0.06805	N	1.125660	1	0.08975	N	0.83	0.20963	L	0.43	0.56772	T	-0.59	0.17624	N	0.027	0.00571	-1.0596	0.11855	T	0.061	0.25310	T	10	0.031085908	0.01240	T	0.006876	0.18177	T	0.020	0.03691	.	.	0.40318662893	0.39936	0.09825966348604429	0.09756	0.121607008955	0.13703	0.291892766953	0.09198	T	0.080541	0.36388	T	-0.602294	0.00141	T	-0.745446	0.03666	T	0.00864784260270498	0.00106	T	0.584142	0.21248	T	0.029534759	0.02463	0.030930026	0.01613	0.029534759	0.02463	0.030930026	0.01612	-3.713	0.19510	T	.	.	0.084	0.09723	B	.;.	.;.	-0.158183	0.03310	0.575	0.83415865967854241	0.14714	0.05695	0.11615	N	ALL	0.046628	0.07764	N	-1.3585960831006	0.03037	0.1350335	-1.43915685150441	0.02869	0.1328135	0.999999993712322	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.493711	0.08198	1	0.638787	0.57140	0	.	.	4.22	-5.66	0.02255	-1.014000	0.03752	-1.971000	0.04412	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1113:0.1621:0.3508:0.3757	2.184	0.03644	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1448.33	52	chr3	45595343	.	C	T	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=975;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.212;SOR=0.682	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1483	18	0	1	0
chr3	45771406	45771406	A	G	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_022405:exon5:c.T635C:p.F212S,SLC6A20:NM_001385683:exon6:c.T779C:p.F260S,SLC6A20:NM_020208:exon6:c.T746C:p.F249S	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	889023	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.920	0.344071105639	0.0006	0.00179712	0.0015	9.612e-05	0.0004	0	0	0.0005	0	0.0084	0.0012613	195	154602	rs147760034	0.0008	0.0008	0.0006	0.0010	0.0083	0.0008	0.0008	0.0078	0.0076	5.974e-05	0.0003	0	0	0	0.0033	0.0003	0.0009	0.0083	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0004	0.0059	0.0052	9.616e-05	0	0.0008	0	0	0	0	0.0004	0.0005	0.0079	0.0	0.91255	D	0.0	0.92824	D	0.953	0.55554	P	0.736	0.59497	P	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	4.11	0.97368	H	-1.47	0.81067	T	-7.63	0.95424	D	0.962	0.98167	0.682	0.92955	D	0.716	0.90265	D	10	0.025021076	0.00710	T	0.344071	0.92093	D	0.920	0.97965	.	.	0.954105210161	0.95361	0.9585109165606687	0.95836	1.04937305826	0.76093	0.783488988876	0.79454	T	0.555145	0.85008	D	0.0964946	0.63912	D	0.371522	0.91125	D	0.298189729416848	0.24929	T	0.945305	0.89432	D	0.98748904	0.99624	0.9782924	0.99771	0.98748904	0.99624	0.9782924	0.99771	-11.945	0.84582	D	.	.	0.870	0.87648	P	.;.;.;.	.;.;.;.	5.119404	0.85627	28.7	0.99850123942819768	0.92925	0.98271	0.81130	D	AEFBI	0.928166	0.91196	D	0.789230275273876	0.85425	8.572749	0.720608179672144	0.83942	8.156442	0.999999997023007	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.05	5.05	0.67566	7.255000	0.77760	10.777000	0.83733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	14.791	0.69466	425	0.81160	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	2033.33	34	chr3	45771406	.	A	G	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=788;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.229;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	18	0	1	0
chr3	45828570	45828570	C	T	exonic	LZTFL1	.	nonsynonymous SNV	LZTFL1:NM_020347:exon8:c.G646A:p.A216T,LZTFL1:NM_001276379:exon9:c.G634A:p.A212T,LZTFL1:NM_001276378:exon10:c.G595A:p.A199T	Bardet-Biedl syndrome 17, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	1154479	not_provided|LZTFL1-related_disorder|Bardet-Biedl_syndrome_17	MedGen:C3661900|.|MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0186270554208	0.0002	0.00139776	0.0007	0.0002	0	0	0	5.997e-05	0	0.0048	0.000608	94	154602	rs146191659	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	5.974e-05	2.237e-05	0	0	0	0.0014	2.158e-05	0.0003	0.0051	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	0.0001	0	0	0	0	0	0	5.881e-05	0	0.0054	0.02	0.49613	D	0.384	0.34241	T	0.968	0.56581	D	0.586	0.50343	P	0.000000	0.84330	D	0.047201	1	0.81001	D	2.33	0.66821	M	1.75	0.26152	T	-1.66	0.39692	N	0.478	0.51940	-0.4093	0.71733	T	0.350	0.71431	T	10	0.009453058	0.00213	T	0.018627	0.40756	T	0.110	0.31079	.	.	0.678500513152	0.67576	0.15667804420353335	0.15588	1.14340301719	0.79003	0.431376218796	0.29396	T	0.00877	0.08027	T	-0.400943	0.02283	T	-0.348162	0.39416	T	0.0871957746759604	0.10881	T	0.79512	0.43772	T	0.14569652	0.33387	0.20995775	0.45362	0.15726864	0.35446	0.19225466	0.42728	-3.503	0.17510	T	.	.	0.08	0.14523	B	.;.;.	.;.;.	3.844395	0.55656	23.6	0.99902155141751248	0.97350	0.98185	0.80341	D	AEFBI	0.585816	0.58410	D	0.374955985064682	0.60066	4.191782	0.426571642553943	0.63227	4.552231	0.999999951994725	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.78	4.91	0.63897	5.344000	0.65751	4.857000	0.45432	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.9312:0.0:0.0688	14.813	0.69641	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	830.33	37	chr3	45828570	.	C	T	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.74;DP=716;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.18;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr3	45901062	45901062	A	G	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.A238G:p.I80V,CCR9:NM_031200:exon3:c.A274G:p.I92V,CCR9:NM_001256369:exon4:c.A238G:p.I80V	.	427	1092	3	0	0	3	0.00137174	.	.	.	3886561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.00614475366822	0.0068	0.00259585	0.0055	0.0024	0.0017	0	0.0068	0.0079	0.0077	0.0027	0.0055239	854	154602	rs45530037	0.0092	0.0092	0.0095	0.0089	0.0108	0.0091	0.0090	0.0107	0.0106	0.0014	0.0024	0.0010	0	0.0070	0.0040	0.0108	0.0103	0.0023	0.0057	0.0057	0.0059	0.0055	0.0093	0.0054	0.0052	0.0087	0.0085	0.0021	0	0.0022	0.0009	0	0.0089	0	0.0093	0.0033	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.02	0.19048	B	0.001934	0.37643	N	0.232817	0.93754	0.26887	N	0.565	0.15224	N	1.24	0.36691	T	-0.2	0.10136	N	0.104	0.09066	-1.0491	0.14649	T	0.034	0.14726	T	10	0.012058288	0.00261	T	0.006145	0.16082	T	0.112	0.31546	.	.	0.361758802978	0.35793	0.06370158300519942	0.06309	0.285566892373	0.30966	0.328147530556	0.14655	T	0.044316	0.26777	T	-0.521563	0.00431	T	-0.510935	0.21219	T	0.0164667113502253	0.00411	T	0.359964	0.08281	T	0.113918446	0.26900	0.07492517	0.16441	0.113918446	0.26900	0.07492517	0.16441	-3.125	0.11586	T	.	.	0.059	0.01884	B	.;.;.	.;.;.	1.153078	0.15411	11.83	0.53530439740931968	0.04958	0.65096	0.32623	D	AEFBI	0.300494	0.40926	N	-0.837704199620552	0.12354	0.601697	-0.772411541023031	0.15173	0.7966424	0.999841289609368	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	2.53	0.29594	4.140000	0.57795	1.051000	0.23638	0.756000	0.94297	1.000000	0.71638	0.020000	0.20764	0.618000	0.31844	0.7247:0.0:0.1464:0.1289	5.497	0.16100	484	0.77165	.;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2343.33	34	chr3	45901062	.	A	G	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=827;ExcessHet=0;FS=5.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.515;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1251	18	0	1	0
chr3	45901395	45901395	C	T	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.C571T:p.P191S,CCR9:NM_031200:exon3:c.C607T:p.P203S,CCR9:NM_001256369:exon4:c.C571T:p.P191S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0144950872134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	0.02052	T	0.983	0.02405	T	0.035	0.20614	B	0.099	0.30579	B	0.001796	0.37998	U	0.000000	1	0.81001	D	1.385	0.34509	L	1.16	0.38073	T	-3.74	0.71042	D	0.136	0.14338	-1.0745	0.08452	T	0.072	0.29227	T	10	0.11446488	0.21537	T	0.014495	0.34657	T	0.082	0.23913	0.65	0.78753	0.418964662724	0.41514	0.3779897638799152	0.37713	0.524358026389	0.50121	0.341315895319	0.16635	T	0.302854	0.67523	T	-0.151438	0.28086	T	-0.455306	0.27111	T	0.206686899065971	0.20779	T	0.674133	0.28269	T	0.22794214	0.45505	0.28275362	0.54265	0.22794214	0.45505	0.28275362	0.54264	-6.387	0.49408	T	.	.	0.182	0.39528	B	.;.;.	.;.;.	1.997835	0.25383	16.74	0.61755238450143668	0.06789	0.86239	0.45481	D	AEFBI	0.285298	0.39796	N	-0.695045740181566	0.16162	0.8210003	-0.659402101277974	0.17979	0.9584587	0.999899738297811	0.45129	0.634777	0.41761	0	0.643519	0.57511	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.51	1.73	0.23565	3.245000	0.51106	0.218000	0.16040	-0.257000	0.07002	1.000000	0.71638	0.833000	0.27230	0.655000	0.32830	0.0:0.7688:0.0:0.2312	9.512	0.38249	484	0.77165	.;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	34	chr3	45901395	.	C	T	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.342;DP=877;ExcessHet=0;FS=149.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.128;SOR=7.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1251	18	0	1	0
chr3	45967832	45967832	T	C	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.A1502G:p.K501R	Cataract 18, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1542733	Cataract_18	MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00614816150294	.	0.000199681	0.0002	0	0	0.0029	0	0	0	0	0.0001682	26	154602	rs146010173	0.0001	0.0001	9.937e-05	0.0001	0.0033	8.915e-05	8.399e-05	0.0029	0.0027	2.987e-05	0	0	0.0033	0	0	8.993e-07	0.0001	0.0001	0.0001	0.0001	5.14e-05	0.0002	0.0023	6.508e-05	5.32e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0.0008	0.153	0.24372	T	0.478	0.11968	T	0.008	0.14655	B	0.007	0.12992	B	0.204591	0.16515	N	0.652897	0.950089	0.26516	N	2.43	0.70455	M	1.99	0.21865	T	-0.68	0.19509	N	0.101	0.11626	-1.0576	0.12362	T	0.031	0.13199	T	10	0.0047347844	0.00100	T	0.006148	0.16111	T	0.033	0.08068	.	.	0.229924730088	0.22615	0.15899051762371547	0.15820	0.132247561378	0.14905	0.281267821789	0.07669	T	0.00967	0.08788	T	-0.526794	0.00401	T	-0.533471	0.18942	T	0.035646427125906	0.02918	T	0.661834	0.27067	T	0.051567063	0.09489	0.057358783	0.10413	0.051567063	0.09489	0.057358783	0.10412	-3.844	0.21463	T	0.2873892948954121	0.38354	0.099	0.16538	B	.;.	.;.	1.514934	0.19458	14.27	0.97841164697377503	0.36332	0.67347	0.33400	D	AEFDGBCI	0.262001	0.37984	N	-0.499122735808923	0.22108	1.178264	-0.388595369390229	0.25336	1.392689	0.999996960566201	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.4	2.8	0.31881	0.743000	0.25899	1.752000	0.28483	0.665000	0.62972	0.064000	0.21895	0.988000	0.31051	0.768000	0.36443	0.1421:0.0781:0.0:0.7798	6.145	0.19495	390	0.83257	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1481.33	56	chr3	45967832	.	T	C	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.891;DP=1019;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.56;SOR=0.74	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr3	45967860	45967860	G	A	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.C1474T:p.R492W	Cataract 18, autosomal recessive, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	291589	Cataract_18|FYCO1-related_disorder|not_provided	MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0186888804903	0.0026	0.00179712	0.0027	0.0002	0.0026	0.0001	0.0021	0.0039	0.0055	0.0007	0.0006274	97	154602	rs143704916	0.0025	0.0025	0.0026	0.0024	0.0029	0.0025	0.0024	0.0029	0.0028	0.0004	0.0029	0.0004	7.557e-05	0.0014	0.0016	0.0029	0.0026	0.0005	0.0026	0.0026	0.0027	0.0025	0.0077	0.0024	0.0023	0.0066	0.0062	0.0004	0	0.0077	0	0.0002	0.0008	0	0.0035	0.0028	0.0004	0.01	0.56456	D	0.011	0.64786	D	0.989	0.62824	D	0.431	0.45421	B	0.334439	0.04150	N	1.435910	1	0.08975	N	1.5	0.37844	L	2.02	0.21666	T	-2.58	0.55662	D	0.265	0.30004	-1.0365	0.18388	T	0.047	0.19998	T	10	0.004735142	0.00100	T	0.018689	0.40835	T	0.073	0.21317	.	.	0.29527378943	0.29149	0.18505202132207824	0.18423	0.383985489066	0.39712	0.178364992142	0.00080	T	0.041947	0.26023	T	-0.503996	0.00543	T	-0.496739	0.22686	T	0.0212506916887722	0.00827	T	0.787921	0.42712	T	0.0805889	0.18473	0.061113063	0.11748	0.06520861	0.13914	0.082107544	0.18712	-6.423	0.49688	T	0.3452860605667937	0.44281	0.090	0.12560	B	.;.	.;.	2.326607	0.29799	18.24	0.99770301325805177	0.85834	0.39927	0.26322	N	AEFDBCI	0.393957	0.47141	N	-0.24171235665711	0.31436	1.762635	-0.3576786001593	0.26272	1.450072	0.999989741928877	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	3.58	0.40133	2.064000	0.41059	0.645000	0.20357	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.001000	0.02609	0.0943:0.1264:0.5164:0.2629	3.103	0.05950	390	0.83257	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1058.33	56	chr3	45967860	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1081;ExcessHet=0;FS=5.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.752;SOR=0.683	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr3	46373903	46373903	G	A	exonic	CCR5	.	nonsynonymous SNV	CCR5:NM_000579:exon3:c.G1001A:p.R334Q,CCR5:NM_001100168:exon3:c.G1001A:p.R334Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0378352214141	.	.	2.578e-05	0	0	0	0	4.586e-05	0	0	1.94e-05	3	154602	rs764318467	2.198e-05	2.257e-05	1.912e-05	2.487e-05	0.0002	1.59e-05	1.361e-05	9.783e-05	6.972e-05	0.0002	9.031e-05	0	0.0001	0	0	9.021e-06	6.649e-05	2.342e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.911e-05	9.625e-05	0	6.532e-05	0	0.0002	0	0	0	0.0005	0	0.001	0.78490	D	0.136	0.34009	T	0.799	0.44910	P	0.161	0.34794	B	0.390051	0.04472	U	1.687520	0.999966	0.18878	N	3.475	0.92503	M	1.22	0.37052	T	-2.88	0.60507	D	0.189	0.30233	-0.8621	0.51111	T	0.151	0.47997	T	10	0.10455492	0.19281	T	0.037835	0.57860	D	0.213	0.50496	0.417	0.45709	0.54823119731	0.54479	0.4613755258366227	0.46055	.	.	0.268115460873	0.05897	T	0.252003	0.62232	T	-0.249037	0.14216	T	-0.299309	0.44799	T	0.161254356293566	0.17963	T	0.936606	0.76191	D	0.169689	0.37500	0.31709328	0.57686	0.169689	0.37500	0.31709328	0.57685	-4.449	0.30216	T	.	.	0.096	0.15430	B	.;.	.;.	2.676609	0.34910	19.76	0.9979857971867836	0.88372	0.45578	0.27570	N	AEFBCI	0.231806	0.35498	N	-0.140451393842778	0.35641	2.049851	-0.286486203048774	0.28543	1.592288	0.99993894008345	0.46732	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.47	3.65	0.40985	2.460000	0.44689	2.363000	0.32383	0.676000	0.76740	0.106000	0.22914	0.051000	0.21832	0.036000	0.13842	0.0752:0.1413:0.7836:0.0	9.617	0.38863	426	0.81110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3357.33	34	chr3	46373903	.	G	A	3357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=864;ExcessHet=0;FS=3.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.486;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr3	46409095	46409095	A	G	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.A1052G:p.D351G,CCRL2:NM_003965:exon2:c.A1016G:p.D339G	.	.	.	.	.	.	.	.	.	.	.	2398936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0101614318922	.	0.000399361	0.0002	0	8.649e-05	0.0016	0	6.036e-05	0.0011	0	0.0001294	20	154602	rs184378837	5.552e-05	5.541e-05	5.997e-05	5.102e-05	0.0011	4.552e-05	4.164e-05	0.0008	0.0007	0	2.246e-05	0	0.0011	0	0.0002	2.973e-05	6.635e-05	0	9.189e-05	9.186e-05	0.0001	8.054e-05	0.0015	5.522e-05	4.36e-05	0.0008	0.0006	0	0	6.538e-05	0	0.0015	0	0	7.35e-05	0	0	0.25	0.17761	T	0.248	0.24477	T	0.001	0.09854	B	0.001	0.06944	B	0.140026	0.02878	N	1.862430	1	0.08975	N	0	0.06538	N	0.23	0.59851	T	-2.16	0.48850	N	0.088	0.07125	-1.0509	0.14147	T	0.114	0.40513	T	10	0.0080550015	0.00183	T	0.010161	0.26368	T	0.082	0.23913	.	.	0.383760037723	0.37989	0.25135576522842995	0.25049	0.0357140560537	0.03767	0.222281813622	0.01446	T	0.090139	0.38521	T	-0.585622	0.00178	T	-0.64936	0.08999	T	0.289837121963501	0.24583	T	0.685431	0.29402	T	0.054218873	0.10372	0.057978764	0.10636	0.054218873	0.10372	0.057978764	0.10635	-2.682	0.07371	T	.	.	0.073	0.06571	B	.;.;.;.	.;.;.;.	0.123782	0.05206	1.718	0.92458904503659822	0.21885	0.11539	0.16700	N	AEFDBHCI	0.137682	0.25874	N	-1.18807593611134	0.05180	0.2355156	-1.21748303069996	0.05629	0.2687259	0.999999531457911	0.74766	0.51972	0.21558	0	0.588066	0.40923	0	0.615948	0.41167	0	0.678554	0.66404	0	.	.	4.95	-0.272	0.12280	0.031000	0.13598	0.177000	0.15587	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.412:0.1586:0.2756:0.1538	0.931	0.01250	423	0.81269	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2740.83	37	chr3	46409095	.	A	G	2740.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.75;DP=880;ExcessHet=0.119;FS=11.3;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.35;SOR=0.272	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1415,0,1858	17	0	2	0
chr3	46438036	46438036	A	C	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon16:c.T1870G:p.C624G,LTF:NM_001321121:exon16:c.T1996G:p.C666G,LTF:NM_002343:exon16:c.T2002G:p.C668G,LTF:NM_001321122:exon19:c.T1963G:p.C655G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0168416246501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28772	T	0.012	0.63918	D	0.998	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	3.29	0.06445	T	-10.07	0.98864	D	0.881	0.88137	-1.1921	0.00219	T	0.047	0.20077	T	10	0.8405925	0.83214	D	0.016842	0.38283	T	0.438	0.74235	0.726	0.86024	0.525664996154	0.52213	0.6559542799452452	0.65531	0.193022807787	0.21635	0.570993483067	0.48819	T	0.259248	0.63049	T	0.186819	0.72670	D	0.0305763	0.72315	D	0.998691141605377	0.94887	D	0.89491	0.63503	D	0.93723077	0.94966	0.90918726	0.95630	0.93723077	0.94966	0.90918726	0.95631	-3.865	0.25305	T	.	.	0.868	0.80734	P	.;.;.;.	.;.;.;.	4.720985	0.75937	26.4	0.98034887944037019	0.37743	0.98426	0.82655	D	AEFI	0.941267	0.94431	D	0.708283068730576	0.80175	7.23652	0.687582971387945	0.81434	7.526053	0.999998637730704	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	8.265000	0.89801	9.206000	0.79210	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	11.582	0.50153	423	0.81269	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1054.33	33	chr3	46438036	.	A	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=718;ExcessHet=0;FS=0.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.124;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M,LTF:NM_001321121:exon11:c.G1345A:p.V449M,LTF:NM_002343:exon11:c.G1351A:p.V451M,LTF:NM_001321122:exon14:c.G1312A:p.V438M	.	427	1036	57	2	0	61	0.0285982	.	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013595	0.000000	0.006793	0.017544	0.000000	0.017241	0.036585	0.015152	0.07895	3721.77	35	chr3	46446446	.	C	T	3721.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.01;DP=777;ExcessHet=0;FS=1.211;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.224;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	17	1	1	0
chr3	46671004	46671004	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon26:c.C2842T:p.H948Y,ALS2CL:NM_147129:exon26:c.C2842T:p.H948Y	.	413	1100	9	0	0	9	0.00407424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00426521386259	.	0.000599042	0.0006	0	0	0	0	7.493e-05	0	0.0038	0.0004722	73	154602	rs567139051	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	0	4.472e-05	0	0	0	0.0014	3.597e-05	0.0004	0.0040	0.0002	0.0002	6.422e-05	0.0002	0.0035	0.0001	8.709e-05	0.0022	0.0018	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0035	0.025	0.47320	D	0.052	0.47581	T	0.476	0.36665	P	0.04	0.23831	B	0.493482	0.12031	N	0.730444	1	0.08975	N	0.345	0.11182	N	1.73	0.26445	T	-0.73	0.20576	N	0.039	0.03175	-1.0336	0.19300	T	0.026	0.10998	T	10	0.0025564432	0.00039	T	0.004265	0.10310	T	0.026	0.05648	.	.	0.107399877778	0.10242	0.1337909567434456	0.13303	0.149307884708	0.16836	0.298631966114	0.10198	T	0.016179	0.13427	T	-0.622905	0.00106	T	-0.668692	0.07693	T	0.0102476517232086	0.00139	T	0.630737	0.24588	T	0.0456181	0.07498	0.0457095	0.06211	0.0456181	0.07498	0.0457095	0.06210	-4.764	0.34168	T	.	.	0.071	0.04080	B	.;.	.;.	0.765663	0.11352	7.972	0.96355614039760484	0.29533	0.03623	0.08862	N	AEFDBI	0.105223	0.21030	N	-0.928615822516833	0.10176	0.4850889	-0.954336296930807	0.10823	0.5475924	0.920128776591723	0.26622	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.61	0.295	0.15001	-0.877000	0.04305	-0.313000	0.10024	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.400000	0.26782	0.0:0.3738:0.246:0.3803	3.681	0.07844	319	0.87030	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	773.33	35	chr3	46671004	.	G	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.783;DP=709;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.585;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	1	0
chr3	46676321	46676321	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.G2110A:p.G704R,ALS2CL:NM_147129:exon19:c.G2110A:p.G704R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2337404	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0467636966519	.	0.000399361	0.0002	0	8.642e-05	0	0	3.001e-05	0	0.0013	0.0001746	27	154602	rs565114772	0.0001	0.0001	6.535e-05	0.0002	0.0013	9.941e-05	9.35e-05	0.0011	0.0010	0	2.236e-05	0	0	0	0.0007	3.417e-05	0.0002	0.0013	9.859e-05	0.0001	8.998e-05	0.0001	0.0019	6.008e-05	4.881e-05	0.0010	0.0007	4.82e-05	0	6.539e-05	0	0.0002	0	0	2.942e-05	0	0.0019	0.098	0.30800	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999983	0.58761	D	2.7	0.79018	M	1.57	0.29342	T	-4.7	0.79829	D	0.885	0.88577	-0.8167	0.54140	T	0.182	0.52965	T	10	0.2534304	0.42710	T	0.046764	0.62611	D	0.347	0.66863	0.489	0.57415	0.317667799068	0.31381	0.5775521865056367	0.57684	0.607010650221	0.55521	0.64257389307	0.58930	T	0.319884	0.69112	T	-0.0770493	0.40192	T	0.0760144	0.75311	D	0.440874129533768	0.30461	T	0.939106	0.77081	D	0.38150588	0.59425	0.34192067	0.59925	0.38150588	0.59425	0.34192067	0.59924	-9.256	0.69330	D	.	.	0.313	0.54761	B	.;.	.;.	4.770825	0.77233	26.7	0.99932549043374774	0.99439	0.98397	0.82359	D	AEFDBI	0.783796	0.71467	D	0.629178828234893	0.75027	6.234048	0.555565600921466	0.71786	5.708141	0.999999999995891	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	6.638000	0.74166	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	15.499	0.75417	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	35	chr3	46676321	.	C	T	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=723;ExcessHet=0;FS=2.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=1.26;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1406	18	0	1	0
chr3	46678278	46678278	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon16:c.C1738T:p.P580S,ALS2CL:NM_147129:exon16:c.C1738T:p.P580S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0210860446951	.	.	8.849e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs752851592	2.068e-06	2.052e-06	1.368e-06	2.779e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.086	0.32610	T	0.031	0.53788	D	0.997	0.70673	D	0.895	0.63489	P	0.036719	0.24488	N	0.336100	1	0.08975	N	2.52	0.73523	M	0.6	0.53731	T	-2.41	0.52938	N	0.421	0.46180	-0.7434	0.58277	T	0.232	0.59806	T	10	0.34076756	0.51139	T	0.021086	0.43804	T	0.280	0.59740	0.428	0.47515	0.441740949975	0.43797	0.5014140098186924	0.50063	0.419392534385	0.42491	0.383897393942	0.22808	T	0.039681	0.25274	T	-0.0432332	0.45469	T	-0.284392	0.46352	T	0.519842565059662	0.33359	D	0.816118	0.47137	T	0.061873987	0.12862	0.06357504	0.12613	0.061873987	0.12862	0.06357504	0.12612	-2.866	0.08808	T	.	.	0.083	0.08997	B	.;.	.;.	3.067262	0.41210	21.3	0.96595077254147077	0.30383	0.91430	0.53517	D	AEFDBI	0.520744	0.54547	D	0.11943824378471	0.47371	2.963649	0.00199520476505477	0.39807	2.365983	0.999989435751366	0.51787	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.1	4.23	0.49319	5.433000	0.66269	7.323000	0.58172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0877:0.0:0.9123:0.0	11.369	0.48930	315	0.87208	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	86	chr3	46678278	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=704;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.32;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	18	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1864.33	39	chr3	46858411	.	C	T	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.871;SOR=0.637	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr3	46998748	46998748	G	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon22:c.G3151T:p.D1051Y,NBEAL2:NM_015175:exon23:c.G3253T:p.D1085Y	Gray platelet syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0363089984163	.	.	2.966e-05	0	0	0	0	5.755e-05	0	0	1.29e-05	2	154602	rs772177163	8.425e-06	1.231e-05	6.941e-06	9.942e-06	1.1e-05	4.49e-06	3.55e-06	5.86e-06	4.63e-06	0	0	0	0	0	0	1.1e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.921	0.65636	D	0.007977	0.01188	N	2.433060	0.759519	0.81001	D	2.365	0.68172	M	1.22	0.37052	T	-6.47	0.91479	D	0.732	0.73285	-0.9443	0.41927	T	0.217	0.57889	T	10	0.7884839	0.78453	D	0.036309	0.56907	D	0.308	0.62947	0.491	0.57732	0.405336283486	0.40149	0.567451490773696	0.56673	0.83129568198	0.67629	0.554537296295	0.46497	T	0.158767	0.50192	T	0.0957348	0.63828	D	-0.10026	0.63378	T	0.996840834617615	0.90201	D	0.908909	0.67748	D	0.4924744	0.66650	0.51576996	0.72022	0.4924744	0.66651	0.51576996	0.72022	-12.175	0.85693	D	0.535564732384791	0.60588	0.521	0.65528	A	.	.	5.080172	0.84782	28.4	0.99493696257778308	0.67630	0.90548	0.51815	D	ALL	0.507795	0.53794	D	0.661516960083434	0.77114	6.613165	0.643162305290491	0.78103	6.809303	0.999999999999999	0.74766	0.839682	0.99964	0	0.827368	0.99789	0	0.736553	0.94036	0	0.636	0.56748	0	.	.	5.05	5.05	0.67566	5.160000	0.64774	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.694000	0.33958	0.0872:0.0:0.9128:0.0	10.748	0.45393	26	0.98304	Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1415.83	33	chr3	46998748	.	G	T	1415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=716;ExcessHet=0.119;FS=1.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.01;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	17	0	2	0
chr3	47002699	47002699	A	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon32:c.A5254T:p.T1752S,NBEAL2:NM_015175:exon33:c.A5356T:p.T1786S	Gray platelet syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	294961	NBEAL2-related_disorder|Gray_platelet_syndrome	.|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00924260263153	8e-05	0.000399361	0.0005	0	0	0.0023	0	0.0005	0	0.0002	0.0002329	36	154602	rs373627201	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0	0	0.0035	0.0010	0	0	6.313e-05	0.0004	0.0002	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	6.532e-05	0.0049	0.0027	0	0	0.0001	0	0.0008	0.827	0.02906	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.117661	0.02696	N	1.676290	1	0.08975	N	-0.895	0.01383	N	0.52	0.55266	T	0.61	0.02480	N	0.046	0.01825	-0.9937	0.31643	T	0.045	0.19518	T	10	0.00289917	0.00046	T	0.009243	0.24272	T	0.016	0.02506	.	.	0.318133320967	0.31420	0.10148668507596915	0.10079	0.169426523582	0.19097	0.426373720169	0.28713	T	0.130766	0.45986	T	-0.648468	0.00074	T	-0.707621	0.05419	T	0.00389594801580501	0.00041	T	0.080392	0.00592	T	0.013541815	0.00062	0.02477482	0.00503	0.013541815	0.00062	0.02477482	0.00503	-2.508	0.05836	T	0.08648505640593106	0.04984	0.070	0.03301	B	.	.	-0.503703	0.01855	0.150	0.19791864858284372	0.00684	0.12405	0.17248	N	AEFDBHCI	0.058594	0.11005	N	-2.20327692405933	0.00075	0.003226859	-2.1498290805972	0.00145	0.006371974	0.999999999975069	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	5.06	-4.6	0.03148	-0.331000	0.07958	0.131000	0.15046	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3593:0.0:0.4881:0.1526	6.226	0.19919	25	0.98345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.009091	0.000000	0.000000	0.02632	2430.33	43	chr3	47002699	.	A	T	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=898;ExcessHet=0;FS=1.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.632;SOR=0.857	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr3	47003251	47003251	C	G	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon34:c.C5560G:p.P1854A,NBEAL2:NM_015175:exon35:c.C5662G:p.P1888A	Gray platelet syndrome, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	889194	not_specified|not_provided|Gray_platelet_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	.	0.000599042	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0102	0.0012872	199	154602	rs200641534	0.0008	0.0008	0.0005	0.0011	0.0099	0.0007	0.0007	0.0093	0.0091	2.987e-05	0.0004	0.0007	0.0001	0	0.0038	0.0002	0.0009	0.0099	0.0005	0.0005	0.0003	0.0008	0.0110	0.0004	0.0004	0.0086	0.0078	4.814e-05	0	0.0005	0.0006	0.0002	0	0.0034	0.0002	0.0009	0.0110	0.274	0.15823	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012993	0.28987	N	0.316013	1	0.08975	N	1.78	0.46185	L	0.49	0.55775	T	-1.51	0.36787	N	0.255	0.28849	-1.0230	0.22736	T	0.093	0.35498	T	10	0.005277723	0.00115	T	.	.	.	0.064	0.18567	.	.	0.228066490088	0.22430	0.3114813273173009	0.31061	0.184002297361	0.20694	0.375576615334	0.21628	T	0.026963	0.19847	T	-0.519116	0.00445	T	-0.511911	0.21119	T	0.0108572421454539	0.00155	T	0.729627	0.34527	T	0.029273508	0.02396	0.03950321	0.04059	0.029273508	0.02395	0.03950321	0.04059	-3.967	0.23308	T	.	.	0.062	0.01367	B	.	.	1.519748	0.19514	14.30	0.91058482078549119	0.20310	0.28716	0.23630	N	AEFDGBCI	0.063515	0.12278	N	-0.394554004495757	0.25662	1.39473	-0.488080824988276	0.22480	1.221263	0.999990728773109	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	2.26	0.27418	0.543000	0.22945	0.233000	0.16214	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.827000	0.38976	0.1974:0.6117:0.1908:0.0	7.037	0.24177	25	0.98345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1582.33	43	chr3	47003251	.	C	G	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.917;DP=807;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-1.925;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr3	47004218	47004218	C	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon36:c.C5921T:p.T1974M,NBEAL2:NM_015175:exon37:c.C6023T:p.T2008M	Gray platelet syndrome, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	889201	not_provided|Gray_platelet_syndrome	MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0332485287028	0.0010	0.000798722	0.0009	0.0003	0.0006	0	0.0002	0.0012	0	0.0012	0.0009638	149	154602	rs201015564	0.0016	0.0016	0.0017	0.0016	0.0023	0.0016	0.0016	0.0018	0.0018	2.987e-05	0.0007	0	5.038e-05	0.0003	0.0023	0.0019	0.0021	0.0013	0.0011	0.0011	0.0012	0.0009	0.0017	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0011	0	0	9.414e-05	0	0.0017	0.0024	0.0014	0.035	0.43708	D	.	.	.	0.347	0.33585	B	0.031	0.21939	B	0.775159	0.06621	N	1.125780	1	0.08975	N	0	0.06538	N	0.44	0.56609	T	-0.78	0.21644	N	0.135	0.13198	-1.0133	0.25880	T	0.091	0.34710	T	10	0.006426841	0.00146	T	0.033249	0.54847	D	0.030	0.07022	.	.	0.338449385132	0.33456	0.3284392821181768	0.32756	0.529839768189	0.50541	0.360432714224	0.19449	T	0.021793	0.16908	T	-0.473234	0.00812	T	-0.457471	0.26875	T	0.00670183427683428	0.00075	T	0.818018	0.47523	T	0.0146467015	0.00102	0.03717971	0.03315	0.0146467015	0.00102	0.03717971	0.03315	-5.19	0.38840	T	.	.	0.079	0.07507	B	.	.	2.076220	0.26402	17.11	0.905178321550418	0.19774	0.02565	0.07104	N	AEFBI	0.035809	0.04669	N	-1.091605840882	0.06796	0.3139196	-1.14067075634737	0.06936	0.3356137	0.999372563842687	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.06	0.061	0.13653	0.984000	0.29163	3.721000	0.39586	-0.184000	0.09925	0.038000	0.20882	1.000000	0.68203	0.295000	0.24381	0.0912:0.5932:0.3156:0.0	9.735	0.39548	25	0.98345	PH-BEACH domain|PH-BEACH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	3101.33	35	chr3	47004218	.	C	T	3101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=898;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.402;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	18	0	1	0
chr3	47267256	47267256	G	A	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon5:c.C374T:p.T125I,KIF9:NM_001377475:exon5:c.C374T:p.T125I,KIF9:NM_022342:exon6:c.C599T:p.T200I,KIF9:NM_182902:exon6:c.C599T:p.T200I,KIF9:NM_001134878:exon7:c.C599T:p.T200I	.	432	1069	21	0	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0074	0.00419329	0.0099	0.0018	0.0032	0	0.0200	0.0132	0.0132	0.0071	0.0091849	1420	154602	rs115200348	0.0095	0.0097	0.0095	0.0096	0.0102	0.0094	0.0094	0.0100	0.0100	0.0011	0.0039	0.0098	2.52e-05	0.0194	0.0061	0.0102	0.0084	0.0065	0.0079	0.0079	0.0077	0.0081	0.0115	0.0075	0.0074	0.0108	0.0106	0.0018	0	0.0018	0.0118	0	0.0215	0	0.0115	0.0071	0.0064	0.003	0.68238	D	0.115	0.55341	T	0.969	0.56768	D	0.922	0.65739	D	0.000012	0.62929	D	0.110564	0.963501	0.41858	D	1.825	0.47900	L	-0.93	0.75215	T	-3.47	0.71397	D	0.452	0.51761	0.056	0.83360	D	0.472	0.79700	T	10	0.010240376	0.00229	T	.	.	.	0.315	0.63694	.	.	0.929514880557	0.92879	0.328074583812485	0.32720	0.677923367899	0.59857	0.668195366859	0.62580	T	0.488178	0.81393	T	-0.331267	0.06016	T	-0.236942	0.51097	T	0.0251898383779963	0.01298	T	0.927207	0.73169	D	0.8332084	0.86127	0.74378324	0.84855	0.8332084	0.86128	0.74378324	0.84856	-10.349	0.76126	D	.	.	0.530	0.65942	A	.;.;.;.;.	.;.;.;.;.	4.795080	0.77860	26.8	0.99483659758339715	0.67014	0.75811	0.37138	D	AEFDGBHCI	0.553565	0.56476	D	0.715830948533987	0.80669	7.346067	0.731403687661654	0.84763	8.38351	0.999999999978896	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.695668	0.68540	0	.	.	5.93	5.93	0.95888	4.597000	0.60770	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	18.915	0.92471	14	0.98855	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain	.	.	.	.	rs115200348	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	895.33	34	chr3	47267256	.	G	A	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=728;ExcessHet=0;FS=1.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.331;SOR=0.429	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1473	18	0	1	0
chr3	47273580	47273580	C	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_001377474:exon4:c.G338A:p.R113Q,KIF9:NM_001377475:exon4:c.G338A:p.R113Q,KIF9:NM_022342:exon4:c.G338A:p.R113Q,KIF9:NM_182902:exon4:c.G338A:p.R113Q,KIF9:NM_001134878:exon5:c.G338A:p.R113Q	.	.	.	.	.	.	.	.	.	.	.	3695309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.0925361781665	.	.	4.278e-05	0	0	0	0	1.525e-05	0	0.0003	3.23e-05	5	154602	rs1054567498	1.508e-05	1.573e-05	1.636e-05	1.378e-05	0.0003	9.87e-06	8.43e-06	6.105e-05	4.06e-05	0	0	0	0	0	0.0003	9.905e-06	0	0.0001	1.971e-05	1.97e-05	2.569e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.997887	0.81001	D	2.345	0.67358	M	-0.89	0.74793	T	-3.99	0.73893	D	0.865	0.86297	0.179	0.85546	D	0.569	0.84368	D	10	0.72993267	0.74228	D	0.092536	0.75909	D	0.601	0.84237	0.562	0.68229	0.907176970148	0.90625	0.6433019630086328	0.64265	0.729428383131	0.62664	0.667129397392	0.62428	T	0.483798	0.81138	T	0.0444561	0.57627	T	0.0857607	0.75963	D	0.988714039325714	0.79012	D	0.966603	0.87805	D	0.9760761	0.98797	0.8914737	0.94371	0.9760761	0.98797	0.8914737	0.94371	-7.63	0.58520	D	.	.	0.302	0.69016	B	.;.;.;.;.	.;.;.;.;.	5.582169	0.92310	32	0.99955097278089389	0.99969	0.92960	0.56973	D	AEFGBCI	0.869017	0.78937	D	0.79815350995602	0.85989	8.744168	0.773488299162983	0.87895	9.383561	0.999999999964437	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.491896	0.07777	0	.	.	5.23	5.23	0.72570	6.209000	0.72107	5.890000	0.50749	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	16	0.98727	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	763.33	34	chr3	47273580	.	C	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=674;ExcessHet=0;FS=1.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.895;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	18	0	1	0
chr3	47409265	47409265	A	G	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon16:c.A1367G:p.Q456R,PTPN23:NM_015466:exon17:c.A1745G:p.Q582R	.	.	.	.	.	.	.	.	.	.	YES	1415719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0223776899713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437170371	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0001	1.048e-05	8.75e-06	3.982e-05	2.373e-05	0.0001	0	0	0	0	0	1.619e-05	0	1.159e-05	1.97e-05	1.97e-05	0	4.033e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.134	0.26300	T	0.11	0.37310	T	0.145	0.27759	B	0.157	0.34536	B	0.000004	0.62929	D	0.063428	0.999956	0.52396	D	2.175	0.60977	M	1.47	0.31987	T	-1.66	0.39692	N	0.446	0.48411	-1.0619	0.11288	T	0.076	0.30584	T	10	0.25646794	0.43051	T	0.022378	0.45263	T	0.089	0.25827	0.308	0.27967	0.67016000163	0.66737	0.2976545890195886	0.29678	0.47165718075	0.46430	0.679619789124	0.64214	T	0.096155	0.39767	T	-0.152078	0.27988	T	-0.456226	0.27012	T	0.610404431819916	0.36817	D	0.819518	0.47762	T	0.41884774	0.62014	0.3008661	0.56120	0.41884774	0.62015	0.3008661	0.56119	-6.72	0.51961	T	.	.	0.219	0.44948	B	.	.	3.694726	0.52664	23.3	0.99084716632144532	0.52051	0.90883	0.52441	D	AEFDBCI	0.719401	0.67029	D	-0.0440163500506851	0.39870	2.358326	0.0482742667086695	0.41988	2.531951	0.999994165948977	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	3.06	0.34374	7.199000	0.77351	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9057:0.0:0.0943:0.0	8.602	0.32913	20	0.98525	ALIX V-shaped domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1025.33	35	chr3	47409265	.	A	G	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.279;DP=768;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.18;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr3	47409780	47409780	G	A	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon18:c.G1697A:p.R566H,PTPN23:NM_015466:exon19:c.G2075A:p.R692H	.	431	1089	2	0	0	2	0.000917431	.	.	.	1417626	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0283498987938	.	.	4.785e-05	0	0	0	0	3.439e-05	0	0.0002	3.88e-05	6	154602	rs758897665	4.465e-05	4.515e-05	3.282e-05	5.66e-05	0.0007	3.59e-05	3.271e-05	0.0002	0.0001	0	2.25e-05	0	2.523e-05	0	0.0007	3.869e-05	0	0.0002	3.285e-05	3.283e-05	0	6.724e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.973e-05	4.823e-05	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.945	0.68163	D	0.001989	0.37503	N	0.210718	0.996045	0.42987	D	1.75	0.45442	L	1.48	0.31731	T	-4.29	0.76414	D	0.268	0.30347	-0.9455	0.41731	T	0.135	0.44971	T	10	0.27076364	0.44610	T	0.02835	0.51038	D	0.125	0.34456	0.308	0.27967	0.605023657363	0.60186	0.2405833597484726	0.23972	0.0720758104395	0.08078	0.473599165678	0.35175	T	0.326083	0.69674	T	-0.272058	0.11529	T	-0.36414	0.37572	T	0.444365940742668	0.30590	T	0.759024	0.38317	T	0.40456676	0.61047	0.36666164	0.61991	0.40456676	0.61047	0.36666164	0.61991	-10.074	0.74354	D	.	.	0.111	0.21728	B	.	.	3.702985	0.52822	23.3	0.99923953796872722	0.98917	0.82203	0.41467	D	AEFDBCI	0.221380	0.34601	N	0.270082663494179	0.54638	3.628973	0.14876424590458	0.47075	2.943378	0.999935816282958	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	2.742000	0.47109	8.533000	0.77464	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.313000	0.24807	0.1019:0.0:0.8981:0.0	9.658	0.39100	20	0.98525	ALIX V-shaped domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.000000	0.000000	0.000000	0.008621	0.003086	0.000000	0.02632	1029.33	100	chr3	47409780	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=812;ExcessHet=0;FS=3.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.812;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr3	47909122	47909122	G	C	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.C5230G:p.P1744A,MAP4:NM_001385682:exon9:c.C5299G:p.P1767A,MAP4:NM_001385687:exon10:c.C5350G:p.P1784A,MAP4:NM_001385688:exon10:c.C5350G:p.P1784A,MAP4:NM_001385689:exon10:c.C5350G:p.P1784A	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0002	0.000798722	0.0016	0	0.0003	0	0	0.0003	0.0011	0.0106	0.0013325	206	154602	rs201731116	0.0008	0.0008	0.0005	0.0012	0.0109	0.0008	0.0008	0.0103	0.0101	2.987e-05	0.0004	0.0005	0.0001	0	0.0029	0.0002	0.0008	0.0109	0.0005	0.0005	0.0003	0.0007	0.0100	0.0004	0.0004	0.0077	0.0069	4.813e-05	0	0.0005	0.0003	0.0002	0	0.0034	0.0002	0.0005	0.0100	0.0	0.91255	D	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.98	0.93175	N	0.412	0.45237	-0.8460	0.52243	T	0.192	0.54506	T	8	0.006774664	0.00154	T	.	.	.	0.130	0.35528	.	.	0.371018649785	0.36716	.	.	.	.	.	.	.	0.027624	0.24420	T	-0.407992	0.02050	T	-0.35101	0.39089	T	0.112883777588479	0.13720	T	0.782022	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.73583	A	.;.	.;.	3.626613	0.51346	23.1	0.9907388720401511	0.51786	0.97353	0.74214	D	AEFBI	0.553810	0.56491	D	0.438028884008352	0.63528	4.588166	0.535437762175494	0.70392	5.49834	0.99999995983723	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.73	5.73	0.89730	6.019000	0.70471	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.994	0.86234	8	0.99202	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2452.33	34	chr3	47909122	.	G	C	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=846;ExcessHet=0;FS=1.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.583;SOR=0.729	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1581	18	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	51.69	33	chr3	48174283	.	C	G	51.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.121;DP=1411;ExcessHet=0.3672;FS=127.421;InbreedingCoeff=-0.0885;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.679;SOR=10.408	GT:AD:DP:GQ:PL	0/1:69,30:99:43:43,0,1022	16	0	3	0
chr3	48180744	48180744	G	T	exonic	CDC25A	.	nonsynonymous SNV	CDC25A:NM_001789:exon6:c.C526A:p.Q176K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0079572607889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	1.0	0.01155	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.050406	0.999194	0.81001	D	2.78	0.81115	M	1.8	0.25344	T	-0.8	0.28290	N	0.537	0.56489	-1.0178	0.24431	T	0.150	0.47822	T	10	0.5686978	0.65196	D	0.007957	0.21110	T	0.243	0.54921	0.713	0.84872	0.572846908325	0.56951	0.277621713704435	0.27675	1.01917520793	0.75045	0.527014374733	0.42614	T	0.157438	0.50004	T	0.0674912	0.60542	T	-0.14083	0.60045	T	0.853409726973628	0.50462	D	0.919408	0.70943	D	0.40412134	0.61017	0.27501974	0.53435	0.40412134	0.61017	0.27501974	0.53434	-5.745	0.44092	T	.	.	0.134	0.35477	B	.;.	.;.	4.014072	0.59233	24.1	0.99036978852543867	0.50939	0.95254	0.64011	D	AEFDBI	0.667659	0.63570	D	0.712984003200585	0.80482	7.304259	0.722819735248964	0.84111	8.201978	0.999999999648052	0.74766	0.645754	0.44609	0	0.516746	0.08562	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	5.791000	0.68692	11.575000	0.93308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.854	0.78740	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1884.81	34	chr3	48180744	.	G	T	1884.81	.	AC=2;AF=0.053;AN=38;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.45;SOR=0.966	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1289	18	1	0	0
chr3	48409644	48409644	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon33:c.G5866A:p.D1956N,PLXNB1:NM_002673:exon33:c.G5866A:p.D1956N	.	427	1094	1	0	0	1	0.00045683	.	.	.	2310071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.581	0.095496289903	.	.	0.0002	0	8.646e-05	0	0	3.006e-05	0.0011	0.0013	0.0001682	26	154602	rs769608602	0.0001	0.0001	8.032e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	9.376e-05	0.0002	3.417e-05	6.623e-05	0.0016	6.572e-05	6.563e-05	3.857e-05	9.41e-05	0.0012	3.517e-05	2.617e-05	0.0005	0.0004	0	0	0	0	0	9.454e-05	0	4.411e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	1.71	0.26737	T	-4.76	0.81595	D	0.782	0.80375	-0.3111	0.74674	T	0.243	0.61166	T	10	0.6671893	0.70497	D	0.095496	0.76439	D	0.581	0.83137	0.839	0.94541	0.755811135456	0.75359	0.7915033158034491	0.79102	1.45782429626	0.86289	0.736598908901	0.72473	T	0.427098	0.77668	T	-0.331072	0.06031	T	-0.288871	0.45891	T	0.691841125488281	0.40333	D	0.992801	0.97620	D	0.91506016	0.92771	0.8098945	0.88893	0.91506016	0.92772	0.8098945	0.88894	-11.163	0.80544	D	.	.	0.383	0.58611	A	.;.;.	.;.;.	4.434083	0.68789	25.3	0.99910613018148597	0.98022	0.95812	0.66259	D	AEFBCI	0.931295	0.91990	D	0.800353861664509	0.86126	8.787028	0.675394728910067	0.80513	7.315913	0.999999999490161	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	7.770000	0.84193	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.723	0.77487	20	0.98525	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1387.33	36	chr3	48409644	.	C	T	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=840;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=2.47;SOR=0.618	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr3	48419726	48419726	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon11:c.G2560A:p.E854K,PLXNB1:NM_002673:exon11:c.G2560A:p.E854K	.	392	1109	21	0	0	21	0.00937919	.	.	.	3221104	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.00199681	0.0020	0	0.0005	0	0	0.0004	0.0016	0.0118	0.0014101	218	154602	rs151201859	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	5.978e-05	0.0001	0.0023	5.044e-05	0	0.0031	0.0001	0.0011	0.0106	0.0006	0.0006	0.0004	0.0009	0.0151	0.0005	0.0005	0.0123	0.0113	4.81e-05	0	0.0003	0.0014	0	0	0.0034	0.0001	0	0.0151	0.012	0.54683	D	0.77	0.04477	T	0.985	0.61118	D	0.41	0.44785	B	0.045398	0.23542	N	0.381504	0.718221	0.81001	D	1.04	0.26193	L	4.02	0.03178	T	-1.2	0.30555	N	0.339	0.38027	-0.6722	0.61729	T	0.006	0.02093	T	10	0.007759124	0.00176	T	.	.	.	0.098	0.28162	.	.	0.409337501531	0.40548	0.438695224230036	0.43786	0.249944974402	0.27571	0.542636275291	0.44818	T	0.089664	0.38421	T	-0.476921	0.00771	T	-0.448445	0.27868	T	0.0410106461134325	0.03874	T	0.753825	0.37593	T	0.12798642	0.29934	0.1042639	0.25038	0.12798642	0.29934	0.1042639	0.25037	-6.449	0.49891	T	.	.	0.063	0.02145	B	.;.	.;.	3.124665	0.42199	21.5	0.99816810544598378	0.89973	0.84705	0.43792	D	AEFDBCI	0.404312	0.47765	N	-0.173397769430185	0.34246	1.952329	-0.104883513123654	0.35193	2.033184	0.999520058267335	0.40175	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.56	2.76	0.31527	2.387000	0.44043	3.215000	0.36822	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.998000	0.85391	0.0:0.8113:0.0:0.1887	8.067	0.29826	15	0.98792	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	3208.81	34	chr3	48419726	.	C	T	3208.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.56;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	1	0	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.02632	1961.33	33	chr3	48423797	.	C	T	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=747;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.846;SOR=0.835	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr3	48424601	48424601	A	G	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.T11C:p.L4P,PLXNB1:NM_002673:exon3:c.T11C:p.L4P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0121084153014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984148790	8.656e-06	8.893e-06	8.545e-06	8.77e-06	1.112e-05	4.62e-06	3.65e-06	5.93e-06	4.68e-06	0	0	0	0	0	0	1.112e-05	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.078	0.33923	T	0.118	0.36233	T	0.031	0.20130	B	0.011	0.15521	B	0.574553	0.11205	N	0.726069	0.80466	0.58761	D	1.59	0.40313	L	3.85	0.03675	T	-1.56	0.37759	N	0.274	0.32921	-0.9108	0.46756	T	0.007	0.02399	T	10	0.14534447	0.27571	T	0.012108	0.30386	T	0.097	0.27909	0.344	0.33788	0.321115633427	0.31720	0.774458562172351	0.77395	0.501532870558	0.48536	0.752530813217	0.74820	T	0.171921	0.52022	T	-0.163963	0.26151	T	-0.453026	0.27363	T	0.23974901827221	0.22408	T	0.605339	0.22755	T	0.5103463	0.67699	0.37631115	0.62755	0.5103463	0.67700	0.37631115	0.62755	-3.696	0.19925	T	.	.	0.089	0.13550	B	.;.;.	.;.;.	3.817084	0.55095	23.6	0.9742320954701239	0.33885	0.72932	0.35683	D	AEFBCI	0.299369	0.40844	N	-0.398740772545438	0.25513	1.385551	-0.243221282342464	0.30005	1.685762	0.999926601660703	0.46280	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.655142	0.61905	0	.	.	4.12	2.96	0.33383	3.751000	0.54882	6.139000	0.54026	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.821000	0.38685	0.8041:0.0:0.1959:0.0	6.250	0.20047	15	0.98792	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	33	chr3	48424601	.	A	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.774;DP=732;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-0.669;SOR=1.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr3	48433151	48433151	G	A	exonic	CCDC51	.	nonsynonymous SNV	CCDC51:NM_001256964:exon4:c.C493T:p.R165C,CCDC51:NM_001256965:exon4:c.C166T:p.R56C,CCDC51:NM_001256966:exon4:c.C166T:p.R56C,CCDC51:NM_001256967:exon4:c.C166T:p.R56C,CCDC51:NM_001256968:exon4:c.C166T:p.R56C,CCDC51:NM_001256969:exon4:c.C166T:p.R56C,CCDC51:NM_024661:exon4:c.C493T:p.R165C	.	431	1076	14	1	0	16	0.00738007	.	.	.	720506	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.229	.	.	0.00579073	0.0060	0	0.0004	0.0001	0	6.351e-05	0.0023	0.0428	0.0048188	745	154602	rs34044760	0.0026	0.0026	0.0014	0.0038	0.0412	0.0025	0.0025	0.0401	0.0396	0.0002	2.238e-05	0	0.0002	0	0.0026	2.071e-05	0.0021	0.0412	0.0013	0.0013	0.0006	0.0019	0.0385	0.0011	0.0011	0.0340	0.0323	2.405e-05	0	0	0	0.0002	0	0.0034	4.409e-05	0.0005	0.0385	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000017	0.62929	D	0.118054	1	0.81001	D	2.625	0.76847	M	1.49	0.31470	T	-3.83	0.72120	D	0.874	0.88798	-0.7677	0.56984	T	0.187	0.53782	T	10	0.0046747625	0.00098	T	.	.	.	0.229	0.52916	0.396	0.42262	0.580186101316	0.57690	0.24809570692682759	0.24723	0.980953571967	0.73737	0.513428688049	0.40703	T	0.219361	0.58235	T	-0.299173	0.08738	T	-0.171101	0.57342	T	0.092709675722794	0.11535	T	0.955304	0.82980	D	0.2875993	0.51769	0.19448353	0.43074	0.2875993	0.51769	0.19448353	0.43073	-9.322	0.69745	D	.	.	0.260	0.49490	B	.;.;.;.	.;.;.;.	5.545805	0.92007	32	0.99934861250546569	0.99579	0.90475	0.51682	D	AEFDGBHCI	0.828817	0.74784	D	0.66105202752361	0.77086	6.607418	0.591569462264956	0.74334	6.119359	0.999999999997832	0.74766	0.675202	0.55065	0	0.696144	0.67643	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	4.969000	0.63449	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.8398:0.1602	13.101	0.58632	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004103	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015385	0.02632	1562.33	37	chr3	48433151	.	G	A	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=795;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.226;SOR=0.824	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr3	48525645	48525645	C	T	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon10:c.G991A:p.E331K,PFKFB4:NM_001317136:exon10:c.G979A:p.E327K,PFKFB4:NM_004567:exon10:c.G1012A:p.E338K,PFKFB4:NM_001317134:exon11:c.G1099A:p.E367K,PFKFB4:NM_001317138:exon11:c.G439A:p.E147K	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.126551623674	7.7e-05	0.000199681	0.0002	0	0.0005	0	0	0.0003	0	0	0.000194	30	154602	rs201998835	9.354e-05	9.508e-05	9.994e-05	8.708e-05	0.0007	8.068e-05	7.559e-05	0.0005	0.0005	0	0.0007	0	5.155e-05	1.878e-05	0.0003	7.857e-05	0.0002	2.335e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.151e-05	7.706e-05	0.0001	0.0001	0	0	0.0003	0	0	0	0	0.0002	0	0.0002	0.069	0.35537	T	0.082	0.41573	T	0.538	0.90584	P	0.105	0.77976	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.67	0.72458	T	-2.85	0.60029	D	0.812	0.80767	-0.0506	0.81193	T	0.455	0.78761	T	10	0.53915477	0.63619	D	0.126552	0.80823	D	0.568	0.82403	.	.	0.860512727691	0.85916	0.6550757154885551	0.65443	1.41615846991	0.85522	0.76645219326	0.76893	T	0.318134	0.68953	T	-0.108948	0.34943	T	-0.00853343	0.69779	D	0.23373547202155	0.22128	T	0.941006	0.77964	D	0.3886688	0.59937	0.3698356	0.62246	0.3886688	0.59938	0.3698356	0.62245	-8.562	0.64838	D	.	.	0.522	0.65555	A	.;.	.;.	4.595229	0.72728	25.9	0.99883688660276593	0.95892	0.94297	0.60718	D	AEFDGBCI	0.946768	0.95658	D	0.425073373295504	0.62804	4.502571	0.450683320560184	0.64760	4.738829	0.999999999278062	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.1	4.1	0.47196	7.840000	0.85068	7.638000	0.63056	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:1.0:0.0:0.0	14.207	0.65284	16	0.98727	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	897.33	33	chr3	48525645	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=702;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.857;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr3	48536296	48536296	C	T	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon8:c.G800A:p.R267Q,PFKFB4:NM_001317136:exon8:c.G767A:p.R256Q,PFKFB4:NM_001317137:exon8:c.G800A:p.R267Q,PFKFB4:NM_004567:exon8:c.G800A:p.R267Q,PFKFB4:NM_001317134:exon9:c.G887A:p.R296Q,PFKFB4:NM_001317138:exon9:c.G227A:p.R76Q	.	428	1092	2	0	0	2	0.000914913	.	.	.	2674264	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.689	0.167241551126	.	0.000199681	6.614e-05	0.0002	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs550543115	3.762e-05	3.762e-05	1.361e-05	6.188e-05	0.0005	2.96e-05	2.656e-05	0.0003	0.0003	8.961e-05	6.708e-05	0	5.038e-05	0	0	4.497e-06	3.312e-05	0.0005	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	7.214e-05	0	0	0	0	0	0	0	0	0.0008	0.117	0.29420	T	0.101	0.38742	T	0.994	0.66517	D	0.677	0.53365	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	-0.78	0.73631	T	-2.69	0.58407	D	0.724	0.72567	0.092	0.84029	D	0.499	0.81077	T	10	0.44740045	0.58483	T	0.167242	0.84565	D	0.689	0.88679	.	.	0.840687982487	0.83916	0.6911691836858521	0.69056	1.3244401102	0.83517	0.703263282776	0.67616	T	0.310902	0.68283	T	0.000279433	0.51693	T	0.0988842	0.76834	D	0.530173420906067	0.33740	D	0.929107	0.73907	D	0.2829164	0.51326	0.22049524	0.46827	0.2829164	0.51326	0.22049524	0.46826	-3.357	0.14484	T	.	.	0.150	0.35034	B	.;.;.;.	.;.;.;.	5.305668	0.89070	29.8	0.99925432078489418	0.99042	0.91615	0.53899	D	AEFGBI	0.620901	0.60579	D	0.439014007978603	0.63583	4.59479	0.368198554088759	0.59612	4.140485	0.99999983589873	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.43	3.55	0.39770	4.047000	0.57095	4.884000	0.45695	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.990000	0.65344	0.0:0.9055:0.0:0.0945	10.624	0.44686	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	3488.81	33	chr3	48536296	.	C	T	3488.81	.	AC=2;AF=0.053;AN=38;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.43;SOR=1.241	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	1	0	0
chr3	48536348	48536348	G	A	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon8:c.C748T:p.R250C,PFKFB4:NM_001317136:exon8:c.C715T:p.R239C,PFKFB4:NM_001317137:exon8:c.C748T:p.R250C,PFKFB4:NM_004567:exon8:c.C748T:p.R250C,PFKFB4:NM_001317134:exon9:c.C835T:p.R279C,PFKFB4:NM_001317138:exon9:c.C175T:p.R59C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0248992983901	.	.	2.473e-05	0	0	0.0001	0	1.5e-05	0	6.057e-05	2.59e-05	4	154602	rs142200739	3.626e-05	3.625e-05	3.948e-05	3.3e-05	0.0002	2.828e-05	2.565e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	3.687e-05	1.656e-05	3.478e-05	1.97e-05	1.968e-05	2.57e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	.	.	.	-7.0	0.94511	D	0.923	0.92667	-0.4411	0.70693	T	0.311	0.68139	T	9	0.86300075	0.85529	D	0.024899	0.47884	T	0.530	0.80188	0.729	0.86286	0.67932339552	0.67659	0.7876701208185184	0.78719	1.59857585291	0.88656	0.902643322945	0.96727	D	0.572796	0.85883	D	0.321713	0.84591	D	0.39347	0.91899	D	0.997195363044739	0.90986	D	0.980002	0.93225	D	0.8145725	0.84856	0.5678452	0.74982	0.8145725	0.84857	0.5678452	0.74983	-10.874	0.78962	D	.	.	0.745	0.77480	P	.;.;.;.	.;.;.;.	6.293406	0.94960	34	0.99914261594407516	0.98309	0.97631	0.76028	D	AEFGBI	0.932167	0.92210	D	0.562341856945152	0.70838	5.560522	0.510756788544315	0.68712	5.258207	0.999999822688134	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.43	3.54	0.39650	6.775000	0.74812	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.824:0.176	11.841	0.51628	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	33	chr3	48536348	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=736;ExcessHet=0;FS=4.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.051;SOR=1.207	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr3	48562898	48562898	A	T	exonic	UCN2	.	nonsynonymous SNV	UCN2:NM_033199:exon2:c.T227A:p.L76Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0181540439958	.	.	0.0004	0	0.0003	0	0	5.691e-05	0	0.0019	0.0001682	26	154602	rs780430031	0.0001	0.0001	8.619e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	9.527e-05	0.0002	4.151e-05	6.671e-05	0.0017	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0012	3.967e-05	3.125e-05	0.0005	0.0004	0	0	6.536e-05	0	0	9.418e-05	0	4.41e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.008508	0.30805	N	0.000000	0.72086	0.33616	D	2.085	0.57729	M	.	.	.	-6.0	0.89534	D	0.863	0.85979	-0.3954	0.72172	T	0.241	0.60881	T	9	0.3478374	0.51710	T	0.018154	0.40116	T	0.345	0.66676	0.522	0.62518	0.144782658237	0.14088	0.1533732438109597	0.15259	0.135082931244	0.15230	0.661604642868	0.61639	T	0.502536	0.82238	D	0.078541	0.61868	D	0.304664	0.88411	D	0.320601016283035	0.25846	T	0.540046	0.18281	T	0.868934	0.88777	0.8614162	0.92276	0.868934	0.88778	0.8614162	0.92276	-4.607	0.32260	T	.	.	0.581	0.68090	P	.	.	4.157963	0.62416	24.5	0.99545064551715623	0.70773	0.73447	0.35927	D	AEFDBCI	0.546730	0.56071	D	0.48592430903905	0.66267	4.928213	0.485960968634569	0.67058	5.033589	0.999999999925732	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	2.695000	0.46710	10.949000	0.84388	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.760000	0.36145	1.0:0.0:0.0:0.0	13.646	0.61752	12	0.98946	Corticotropin-releasing factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1506.33	33	chr3	48562898	.	A	T	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=754;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.906;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr3	48594462	48594462	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon3:c.C172T:p.R58C	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1417627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.560	0.191479436885	.	.	4.162e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs780696923	1.918e-05	1.984e-05	1.227e-05	2.616e-05	0.0007	1.33e-05	1.145e-05	0.0002	9.95e-05	0	6.708e-05	0	0	0	0.0007	6.295e-06	0	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.081	0.24602	B	0.029	0.21540	B	0.000872	0.41335	D	0.000000	0.931657	0.27041	N	3.325	0.90780	M	-1.89	0.84557	D	-1.34	0.33401	N	0.602	0.62018	-0.1049	0.79987	T	0.573	0.84559	D	10	0.8440664	0.83568	D	0.191479	0.86186	D	0.560	0.81946	0.756	0.88567	0.938344076386	0.93770	0.9166779566197542	0.91642	0.337273134576	0.35723	0.689513683319	0.65636	T	0.465249	0.80047	T	-0.0139641	0.49708	T	-0.0211664	0.68951	D	0.703983783721924	0.40909	D	0.882712	0.60367	D	0.51646173	0.68056	0.24657223	0.50169	0.51646173	0.68057	0.24657223	0.50168	-8.573	0.64911	D	.	.	0.320	0.54521	B	.	.	4.822095	0.78552	26.9	0.98678034670358783	0.44568	0.70491	0.34612	D	AEFDGBHCI	0.589666	0.58646	D	0.0655381408185661	0.44861	2.752501	0.11084815245452	0.45101	2.779454	0.999999984947515	0.74766	0.789315	0.99827	0	0.958517	0.99986	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.88	4.0	0.45673	5.608000	0.67336	9.639000	0.81144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.235000	0.22869	0.0837:0.0:0.7567:0.1596	8.019	0.29561	10	0.99061	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1567.33	111	chr3	48594462	.	G	A	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.033;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr3	48633592	48633592	C	G	exonic	SLC26A6	.	nonsynonymous SNV	SLC26A6:NM_001040454:exon1:c.G4C:p.D2H,SLC26A6:NM_001281732:exon2:c.G67C:p.D23H,SLC26A6:NM_001281733:exon2:c.G67C:p.D23H,SLC26A6:NM_022911:exon2:c.G67C:p.D23H,SLC26A6:NM_134263:exon2:c.G67C:p.D23H,SLC26A6:NM_134426:exon2:c.G67C:p.D23H	.	407	1107	7	1	0	9	0.00404858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	0.0018	0.00299521	0.0030	0.0024	0.0044	0	0	0.0039	0.0101	0.0011	0.0003558	55	154602	rs193176261	0.0023	0.0023	0.0023	0.0024	0.0113	0.0023	0.0022	0.0091	0.0083	0.0023	0.0046	0.0304	2.519e-05	9.462e-05	0.0113	0.0017	0.0048	0.0006	0.0025	0.0025	0.0026	0.0024	0.0050	0.0023	0.0022	0.0041	0.0038	0.0018	0	0.0050	0.0225	0	0.0002	0.0272	0.0017	0.0109	0.0008	0.012	0.59928	D	0.021	0.63918	D	0.151	0.30717	B	0.117	0.38358	B	.	.	.	.	0.999756	0.26487	N	0.345	0.11182	N	-3.08	0.93640	D	-1.21	0.36385	N	0.237	0.32701	0.249	0.86731	D	0.791	0.92924	D	9	0.004698992	0.00099	T	.	.	.	0.282	0.59981	.	.	0.80457792194	0.80274	0.46150374793851057	0.46068	0.254597488694	0.28029	0.58295238018	0.50501	T	0.030681	0.66135	T	-0.310032	0.07745	T	-0.212425	0.53463	T	0.0214555847510762	0.00849	T	0.755224	0.37818	T	0.14830953	0.33865	0.17394736	0.39756	0.14830953	0.33864	0.17394736	0.39755	-5.915	0.45800	T	.	.	0.119	0.37024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.319337	0.45644	22.2	0.98025994956380536	0.37674	0.55579	0.29899	D	AEFGBI	0.266498	0.38340	N	-0.227056879534691	0.32027	1.801905	-0.144173935976914	0.33634	1.925947	0.999999995554248	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.75	4.75	0.59954	0.218000	0.17407	5.902000	0.50901	0.599000	0.40250	0.021000	0.19753	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	15.277	0.73448	5	0.99359	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.070707	0.031250	0.011696	0.050000	0.000000	0.000000	0.000000	0.02632	1388.33	33	chr3	48633592	.	C	G	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.64;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.987;SOR=0.638	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1402,0,2039	18	0	1	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L	.	421	1052	47	2	0	51	0.0236659	.	.	.	698156	not_provided|CELSR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.028701	0.010101	0.047554	0.020588	0.000000	0.017241	0.021341	0.022727	0.02632	1739.33	33	chr3	48639758	.	G	A	1739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=797;ExcessHet=0;FS=3.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.651;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	1	0
chr3	48640298	48640298	A	G	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.T9287C:p.L3096P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.247983366108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	0.999917	0.51042	D	0.695	0.17993	N	-0.6	0.71662	T	-1.0	0.26422	N	0.287	0.32481	-0.8966	0.48331	T	0.150	0.47734	T	9	0.18615553	0.34068	T	0.247983	0.88991	D	0.290	0.60924	0.128	0.03331	0.746981172926	0.74469	0.15710673650637613	0.15631	0.487422719547	0.47563	0.650024414062	0.59989	T	0.157781	0.50052	T	0.0133111	0.53478	T	-0.218656	0.52866	T	0.374194279216919	0.27959	T	0.587141	0.21465	T	0.23424226	0.46241	0.2375355	0.49054	0.23424226	0.46241	0.2375355	0.49053	-3.059	0.10831	T	.	.	0.056	0.00428	B	.	.	3.176438	0.43098	21.7	0.98130148263311034	0.38514	0.87532	0.47102	D	AEFBI	0.293292	0.40395	N	-0.410288523721983	0.25109	1.360549	-0.271167386025925	0.29052	1.624671	0.996941171801605	0.35138	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.03	2.89	0.32713	2.476000	0.44830	6.843000	0.56720	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.8179:0.0:0.1821:0.0	5.990	0.18688	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	33	chr3	48640298	.	A	G	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.046;DP=732;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.061;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I	.	415	1027	71	9	0	89	0.0415306	.	.	.	48715	Variant_of_unknown_significance|not_provided	MedGen:C2986382|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.015152	0.020436	0.058480	0.050000	0.025862	0.018293	0.015267	0.05263	3090.81	33	chr3	48645117	.	C	T	3090.81	.	AC=2;AF=0.053;AN=38;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.01;SOR=1.125	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	1	0	0
chr3	48765017	48765017	C	T	exonic	PRKAR2A	.	nonsynonymous SNV	PRKAR2A:NM_001321989:exon7:c.G776A:p.R259H,PRKAR2A:NM_001321982:exon8:c.G860A:p.R287H,PRKAR2A:NM_001321983:exon8:c.G860A:p.R287H,PRKAR2A:NM_004157:exon8:c.G860A:p.R287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.117853535576	.	.	4.148e-05	0	0	0	0	1.512e-05	0	0.0002	3.23e-05	5	154602	rs779197243	2.532e-05	2.531e-05	1.362e-05	3.713e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	0	0	0	0	0	0.0002	7.196e-06	1.656e-05	0.0003	5.252e-05	5.25e-05	2.57e-05	8.055e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0010	0.564	0.36912	T	0.213	0.31225	T	0.175	0.28858	B	0.076	0.28435	B	0.000002	0.62929	D	0.060923	1	0.81001	D	1.7	0.43825	L	-3.07	0.92508	D	-1.98	0.45769	N	0.453	0.49237	0.231	0.86429	D	0.714	0.90170	D	10	0.34177417	0.51221	T	0.117854	0.79774	D	0.553	0.81544	0.385	0.40460	0.888306609885	0.88720	0.6867228884755804	0.68612	1.19765383722	0.80452	0.449647843838	0.31896	T	0.658016	0.89702	D	-0.014774	0.49595	T	0.00068075	0.70380	D	0.562318384647369	0.34942	D	0.975402	0.96808	D	0.13516031	0.31379	0.10407039	0.24986	0.13516031	0.31379	0.10407039	0.24985	-5.628	0.43048	T	.	.	0.115	0.33846	B	.;.;.	.;.;.	4.113228	0.61418	24.3	0.99717115208008722	0.81773	0.95644	0.65551	D	AEFBI	0.499431	0.53312	N	0.131601516158048	0.47942	3.012946	0.213589006188179	0.50601	3.250423	0.996022416068224	0.34476	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.8	3.91	0.44383	1.939000	0.39841	4.784000	0.44855	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.985000	0.61073	0.0:0.9229:0.0:0.0771	13.450	0.60619	1	0.99630	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1966.81	36	chr3	48765017	.	C	T	1966.81	.	AC=2;AF=0.053;AN=38;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.36;SOR=0.849	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	18	1	0	0
chr3	49013066	49013066	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G1454A:p.R485H,WDR6:NM_001320547:exon2:c.G1379A:p.R460H,WDR6:NM_018031:exon2:c.G1532A:p.R511H	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.143908924888	0.0008	0.000798722	0.0011	0.0004	0.0005	0	0.0003	0.0014	0.0011	0.0012	0.0010543	163	154602	rs142520902	0.0012	0.0012	0.0012	0.0012	0.0080	0.0011	0.0011	0.0062	0.0055	0.0006	0.0009	0.0003	2.523e-05	0.0006	0.0080	0.0012	0.0014	0.0016	0.0010	0.0010	0.0010	0.0010	0.0021	0.0009	0.0008	0.0011	0.0009	0.0005	0	0.0015	0	0	0.0006	0.0102	0.0012	0.0033	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.88582	D	0.000000	0.84330	D	0.000000	0.999858	0.81001	D	1.79	0.46772	L	-0.22	0.90083	T	-4.71	0.79915	D	0.711	0.71765	0.782	0.94191	D	0.830	0.94313	D	10	0.16239479	0.30435	T	0.143909	0.82620	D	0.684	0.88443	.	.	0.920913373336	0.92011	0.8852919513013255	0.88498	0.858137607656	0.68846	0.743246555328	0.73450	T	0.152551	0.67814	T	-0.105573	0.35500	T	0.0454957	0.73287	D	0.0458476212297395	0.04755	T	0.877412	0.59112	D	0.45112568	0.64112	0.23708549	0.48997	0.45112568	0.64113	0.23708549	0.48996	-10.903	0.79123	D	.	.	0.895	0.82448	P	.;.;.;.	.;.;.;.	5.028960	0.83633	28.1	0.99936757636496798	0.99621	0.98134	0.79889	D	AEFDBCI	0.925463	0.90505	D	0.827740561056247	0.87805	9.347594	0.82317825321104	0.91357	10.845	0.999999999999895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.053000	0.93310	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.378	0.94508	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.003788	0.05263	4719.81	35	chr3	49013066	.	G	A	4719.81	.	AC=2;AF=0.053;AN=38;DP=959;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.47;SOR=0.927	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	1	0	0
chr3	49013626	49013626	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G2014A:p.G672S,WDR6:NM_001320547:exon2:c.G1939A:p.G647S,WDR6:NM_018031:exon2:c.G2092A:p.G698S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00856076383831	0.0013	0.00179712	0.0012	0	0	0.0015	0.0029	0.0013	0.0022	0.0012	0.0011966	185	154602	rs142396671	0.0015	0.0015	0.0015	0.0015	0.0016	0.0015	0.0014	0.0016	0.0015	0.0002	0.0001	0	0.0016	0.0034	0.0002	0.0016	0.0008	0.0012	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0015	0.0013	0.0001	0	0	0	0.0025	0.0041	0	0.0017	0.0014	0.0017	0.505	0.07619	T	0.861	0.03399	T	0.0	0.07471	B	0.001	0.13708	B	0.002104	0.37227	N	0.331029	0.970985	0.26797	N	0.23	0.09627	N	-0.35	0.74159	T	-0.98	0.25986	N	0.099	0.08506	-1.0574	0.12414	T	0.126	0.43174	T	10	0.006213665	0.00140	T	0.008561	0.22631	T	0.093	0.26882	.	.	0.529311486226	0.52578	0.4188522927932348	0.41801	0.206106104933	0.23033	0.440957605839	0.30708	T	0.02615	0.28139	T	-0.476241	0.00778	T	-0.486943	0.23712	T	0.0057678345095615	0.00063	T	0.723528	0.33942	T	0.035037883	0.04047	0.073364705	0.15934	0.029757258	0.02524	0.08170301	0.18588	-4.255	0.27541	T	.	.	0.074	0.07507	B	.;.;.;.;.	.;.;.;.;.	2.252719	0.28777	17.91	0.8762941690110263	0.17365	0.64078	0.32291	D	AEFBCI	0.322724	0.42513	N	-0.426763623525616	0.24535	1.325446	-0.205488043315911	0.31339	1.772606	0.999996344650136	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	3.33	0.37245	1.837000	0.38841	6.933000	0.56965	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.1651:0.144:0.2703:0.4206	0.796	0.00999	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1398.33	35	chr3	49013626	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=888;ExcessHet=0;FS=1.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-2.731;SOR=0.785	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	0	1	0
chr3	49108462	49108462	G	T	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon26:c.C3757A:p.P1253T,USP19:NM_001351103:exon26:c.C3802A:p.P1268T,USP19:NM_001351104:exon26:c.C3808A:p.P1270T,USP19:NM_001351106:exon26:c.C3802A:p.P1268T,USP19:NM_001351108:exon26:c.C3763A:p.P1255T,USP19:NM_001199161:exon27:c.C4105A:p.P1369T,USP19:NM_001199162:exon27:c.C4069A:p.P1357T,USP19:NM_001351098:exon27:c.C4066A:p.P1356T,USP19:NM_001351099:exon27:c.C4096A:p.P1366T,USP19:NM_001351101:exon27:c.C4105A:p.P1369T,USP19:NM_001351107:exon27:c.C4060A:p.P1354T	.	429	1085	6	1	1	9	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00279553	0.0087	0.0015	0.0123	0	0	0.0126	0.05	0.0022	0.0009185	142	154602	rs200833787	0.0023	0.0023	0.0022	0.0023	0.0089	0.0022	0.0022	0.0068	0.0060	0.0027	0.0063	0.0353	0.0002	7.212e-05	0.0089	0.0017	0.0051	0.0008	0.0029	0.0029	0.0030	0.0028	0.0066	0.0027	0.0026	0.0056	0.0052	0.0019	0	0.0066	0.0276	0	0	0.0374	0.0018	0.0118	0.0014	0.029	0.48186	D	0.37	0.19782	T	.	.	.	.	.	.	.	.	.	.	0.996697	0.23850	N	.	.	.	2.06	0.20523	T	-1.26	0.31778	N	0.218	0.25006	-1.0637	0.10855	T	0.029	0.12497	T	9	0.0037465394	0.00070	T	.	.	.	0.037	0.09474	.	.	0.143184338766	0.13958	.	.	.	.	.	.	.	.	.	.	-0.551398	0.00286	T	-0.560816	0.16301	T	0.00503155485836064	0.00054	T	0.814918	0.46941	T	.	.	.	.	.	.	.	.	-4.501	0.30902	T	.	.	0.060	0.00995	B	.;.;.	.;.;.	2.457845	0.31662	18.81	0.98054008758325639	0.37890	0.90737	0.52166	D	AEFDBI	0.221949	0.34651	N	-0.342163299314726	0.27560	1.513127	-0.202239065886087	0.31455	1.780362	0.736483490262638	0.23140	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.4	1.58	0.22557	0.360000	0.19987	0.018000	0.13546	0.676000	0.76740	0.994000	0.38300	0.390000	0.24659	0.998000	0.85391	0.3094:0.0:0.5508:0.1397	4.797	0.12644	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033800	0.069149	0.036145	0.010870	0.000000	0.000000	0.000000	0.000000	0.02632	840.33	37	chr3	49108462	.	G	T	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=787;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.529;SOR=0.744	GT:AD:DP:GQ:PL	0/1:52,37:89:99:854,0,1188	18	0	1	0
chr3	49110787	49110787	C	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon23:c.G3274T:p.V1092L,USP19:NM_001351103:exon23:c.G3319T:p.V1107L,USP19:NM_001351104:exon23:c.G3325T:p.V1109L,USP19:NM_001351106:exon23:c.G3319T:p.V1107L,USP19:NM_001351108:exon23:c.G3280T:p.V1094L,USP19:NM_006677:exon23:c.G3313T:p.V1105L,USP19:NM_001199160:exon24:c.G3616T:p.V1206L,USP19:NM_001199161:exon24:c.G3622T:p.V1208L,USP19:NM_001199162:exon24:c.G3586T:p.V1196L,USP19:NM_001351098:exon24:c.G3583T:p.V1195L,USP19:NM_001351099:exon24:c.G3613T:p.V1205L,USP19:NM_001351100:exon24:c.G3619T:p.V1207L,USP19:NM_001351101:exon24:c.G3622T:p.V1208L,USP19:NM_001351105:exon24:c.G3466T:p.V1156L,USP19:NM_001351107:exon24:c.G3577T:p.V1193L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00724607402375	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563967011	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49613	D	0.018	0.59732	D	0.663	0.40973	P	0.252	0.39069	B	0.000001	0.62929	D	0.097664	0.991783	0.41474	D	0.63	0.15941	N	1.8	0.25344	T	-1.61	0.38734	N	0.543	0.59986	-1.1253	0.02021	T	0.029	0.12541	T	10	0.47426373	0.60048	T	0.007246	0.19225	T	0.191	0.46948	0.763	0.89133	0.134007934775	0.12933	0.27834612520134283	0.27747	0.583846362237	0.54080	0.753840625286	0.75013	T	0.025523	0.27918	T	-0.146684	0.28831	T	-0.365612	0.37401	T	0.712140619754791	0.41305	D	0.854015	0.53996	D	0.13864501	0.32058	0.1188575	0.28690	0.13864501	0.32058	0.1188575	0.28689	-5.603	0.42820	T	.	.	0.559	0.71237	A	.;.;.;.;.;.	.;.;.;.;.;.	4.227207	0.63986	24.6	0.99612586620465349	0.74932	0.98909	0.88484	D	AEFDBI	0.717972	0.66931	D	0.179400202425321	0.50212	3.213285	0.32831445401124	0.57210	3.885917	0.999985924109549	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.65	0.57626	4.998000	0.63670	5.929000	0.51288	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.6578:0.0:0.3422	3.665	0.07790	0	0.99858	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1530.33	36	chr3	49110787	.	C	A	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=773;ExcessHet=0;FS=1.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.405;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr3	49271371	49271371	C	T	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon3:c.G613A:p.G205S	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00498835903467	0.0034	0.00119808	0.0029	0.0008	0.0010	0	0.0014	0.0045	0.0022	0.0012	0.0030983	479	154602	rs150162031	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	0	0.0019	0.0080	0.0056	0.0047	0.0017	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0046	0.0044	0.0011	0.0011	0.0035	0.0003	0	0.0015	0.0068	0.0050	0.0038	0.0008	0.162	0.23541	T	0.297	0.20551	T	0.051	0.22415	B	0.067	0.27542	B	0.079406	0.20986	N	0.404485	0.999992	0.08975	N	1.445	0.36358	L	0.79	0.49068	T	-2.9	0.60827	D	0.115	0.10340	-1.0477	0.15045	T	0.055	0.23338	T	10	0.0040697157	0.00079	T	0.004988	0.12598	T	0.012	0.01476	.	.	0.289474373501	0.28556	0.12887484892142367	0.12812	0.0816453080078	0.09195	.	.	.	0.037492	0.24493	T	-0.52518	0.00410	T	-0.523435	0.19946	T	0.00917204199756853	0.00116	T	0.582642	0.21138	T	0.05229814	0.09735	0.06583787	0.13400	0.05229814	0.09734	0.06583787	0.13400	-2.482	0.05660	T	.	.	0.076	0.06069	B	.	.	0.841708	0.12137	8.685	0.55620872445190972	0.05380	0.03476	0.08635	N	AEFDGBI	0.033556	0.04004	N	-0.759683506032497	0.14371	0.7153474	-0.734477403460254	0.16104	0.8503523	0.725265385761274	0.22980	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.16	2.19	0.26890	0.477000	0.21906	2.023000	0.30218	0.469000	0.21855	0.314000	0.25450	0.990000	0.31317	0.130000	0.19568	0.0:0.6775:0.0:0.3225	6.116	0.19348	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1045.33	33	chr3	49271371	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=695;ExcessHet=0;FS=8.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.581;SOR=1.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr3	49357420	49357420	C	T	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.G442A:p.A148T	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	1	1480	41	0	0	41	0.0136621	.	.	.	3206544	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0078	0.0125799	0.0041	0.0323	0.0018	0	0	0.0008	0.0023	0.0075	0.0039133	605	154602	rs6446261	0.0018	0.0018	0.0017	0.0018	0.0328	0.0017	0.0017	0.0311	0.0305	0.0328	0.0027	0.0039	5.041e-05	0	0.0090	0.0003	0.0035	0.0075	0.0096	0.0097	0.0095	0.0098	0.0320	0.0092	0.0091	0.0306	0.0300	0.0320	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0081	0.0079	0.581	0.05973	T	0.516	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.050785	0.23039	N	0.475441	1	0.81001	D	1.29	0.32370	L	3.7	0.04079	T	-0.44	0.14588	N	0.122	0.11340	-0.9341	0.43530	T	0.003	0.00994	T	10	0.0057239234	0.00127	T	.	.	.	0.036	0.09122	.	.	0.310458034454	0.30648	.	.	0.625492213557	0.56726	0.266051054001	0.05632	T	0.046592	0.27470	T	-0.64502	0.00078	T	-0.675618	0.07253	T	0.00226996346110567	0.00024	T	0.460354	0.25495	T	0.036734007	0.04575	0.030052433	0.01414	0.036734007	0.04575	0.030052433	0.01413	.	.	.	.	.	0.088	0.13268	B	.;.;.	.;.;.	2.313638	0.29619	18.18	0.91150700794935624	0.20404	0.68796	0.33938	D	AEFGBCI	0.286005	0.39849	N	-0.459519707602378	0.23419	1.257467	-0.361417653601922	0.26157	1.443024	0.99999992207612	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	3.28	0.36691	0.873000	0.27702	2.188000	0.31185	0.596000	0.33519	0.954000	0.33273	0.999000	0.35428	0.731000	0.35132	0.1517:0.6012:0.0:0.2471	4.660	0.12023	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010171	0.010417	0.014986	0.008264	0.050000	0.025862	0.003145	0.007692	0.05263	1764.81	61	chr3	49357420	.	C	T	1764.81	.	AC=2;AF=0.053;AN=38;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=46.08;QD=32.09;SOR=1.739	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,114,1440	18	1	0	0
chr3	49358265	49358265	C	G	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon1:c.G14C:p.R5P	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	2	1481	39	0	0	39	0.0129957	.	.	.	3217126	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.043	.	.	0.0125799	0.0059	0.0383	0	0	0	0.0015	0	0.0047	0.0012484	193	154602	rs8179169	0.0017	0.0017	0.0016	0.0018	0.0329	0.0016	0.0016	0.0313	0.0306	0.0329	0.0029	0.0041	5.632e-05	0	0.0047	0.0003	0.0036	0.0075	0.0097	0.0097	0.0095	0.0098	0.0321	0.0093	0.0091	0.0306	0.0301	0.0321	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0080	0.0079	0.056	0.53900	T	0.062	0.45318	T	0.0	0.02946	B	0.0	0.01387	B	0.973120	0.07792	N	1.021110	1	0.08975	N	0.55	0.14455	N	4.07	0.12988	T	-0.98	0.29525	N	0.1	0.40063	-0.9659	0.38033	T	0.017	0.06807	T	10	0.0021373928	0.00031	T	.	.	.	0.043	0.11576	.	.	0.43656330218	0.43278	.	.	0.930252368807	0.71791	0.628332972527	0.56908	T	0.041852	0.25994	T	-0.600678	0.00144	T	-0.612612	0.11774	T	0.0213533665627042	0.00838	T	0.422258	0.11242	T	0.20519191	0.42654	0.19333829	0.42897	0.20519191	0.42654	0.19333829	0.42896	.	.	.	.	.	0.077	0.11701	B	.;.;.;.	.;.;.;.	0.471235	0.08407	5.163	0.9515917842168633	0.26303	0.05059	0.10849	N	AEFGBHCIJ	.	.	.	-1.18523976353331	0.05223	0.237591	-1.2369128723785	0.05328	0.2535777	0.999999999999359	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	-5.29	0.02535	-0.629000	0.05605	-1.318000	0.05730	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.2114:0.2629:0.2908:0.2349	0.981	0.01346	1	0.99630	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009732	0.018293	0.013793	0.013605	0.000000	0.032609	0.003846	0.000000	0.05263	4722.81	80	chr3	49358265	.	C	G	4722.81	.	AC=2;AF=0.053;AN=38;DP=1221;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=53.66;QD=30.28;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800:.	18	1	0	0
chr3	49421550	49421550	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164711:exon2:c.G113A:p.R38Q,AMT:NM_000481:exon3:c.G281A:p.R94Q,AMT:NM_001164710:exon3:c.G281A:p.R94Q,AMT:NM_001164712:exon3:c.G281A:p.R94Q	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2091466	Glycine_encephalopathy|AMT-related_disorder	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.639	0.105863090118	7.7e-05	.	6.59e-05	0.0002	8.637e-05	0	0	1.498e-05	0	0.0002	5.82e-05	9	154602	rs368129012	3.762e-05	3.762e-05	2.995e-05	4.538e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	0	0.0002	2.158e-05	3.312e-05	0.0003	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0010	3.968e-05	3.125e-05	0.0004	0.0003	7.216e-05	0	6.537e-05	0	0	0	0	2.94e-05	0	0.0010	0.438	0.11370	T	0.575	0.09588	T	0.999	0.77913	D	0.837	0.59984	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.99	0.85699	M	-0.98	0.83737	T	-2.45	0.53577	N	0.511	0.54234	0.479	0.90252	D	0.715	0.90207	D	10	0.71646357	0.73378	D	0.105863	0.78119	D	0.639	0.86232	.	.	0.946859879238	0.94630	0.7796854547001408	0.77919	0.834789737378	0.67770	0.508735775948	0.40045	T	0.915339	0.98439	D	0.0762887	0.61604	D	0.151242	0.80262	D	0.926009118556976	0.58804	D	0.905909	0.67223	D	0.7567677	0.81263	0.5836407	0.75859	0.7567677	0.81264	0.5836407	0.75860	-8.301	0.69726	D	0.7832347692386288	0.86283	0.197	0.53906	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.398179	0.90409	31	0.99930541174085252	0.99334	0.98115	0.79725	D	ALL	0.909717	0.86670	D	0.813320882066434	0.86932	9.046778	0.791082849423455	0.89167	9.864859	1.0	0.98316	0.542737	0.22433	0	0.601644	0.50151	0	0.685571	0.62057	0	0.695668	0.68540	0	.	.	5.41	5.41	0.78313	5.346000	0.65762	7.678000	0.65147	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.041	0.86363	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2863.81	46	chr3	49421550	.	C	T	2863.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.52;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	1	0	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F,DAG1:NM_001177643:exon2:c.G258C:p.L86F,DAG1:NM_001177644:exon2:c.G258C:p.L86F,DAG1:NM_004393:exon2:c.G258C:p.L86F,DAG1:NM_001177635:exon3:c.G258C:p.L86F,DAG1:NM_001177637:exon3:c.G258C:p.L86F,DAG1:NM_001177638:exon3:c.G258C:p.L86F,DAG1:NM_001177640:exon3:c.G258C:p.L86F,DAG1:NM_001177641:exon3:c.G258C:p.L86F,DAG1:NM_001177642:exon3:c.G258C:p.L86F,DAG1:NM_001177636:exon4:c.G258C:p.L86F,DAG1:NM_001165928:exon5:c.G258C:p.L86F,DAG1:NM_001177634:exon5:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	192381	DAG1-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided	.|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1363.33	41	chr3	49510792	.	G	C	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=876;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.323;SOR=0.991	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1426	18	0	1	0
chr3	49663187	49663187	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11029T:p.H3677Y	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00950092052565	.	.	8.381e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs778988400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.101	0.38596	T	0.999	0.77913	D	0.915	0.65091	D	0.004183	0.34013	N	0.265926	0.999997	0.58761	D	1.485	0.37223	L	2.13	0.19588	T	0.08	0.06026	N	0.404	0.44474	-1.1001	0.04079	T	0.104	0.38267	T	10	0.30275017	0.47810	T	0.009501	0.24878	T	0.105	0.29889	0.23	0.15705	0.253981072376	0.25009	0.11894680064854962	0.11821	0.319986332736	0.34200	0.642325460911	0.58894	T	0.105371	0.41577	T	-0.100232	0.36386	T	-0.381753	0.35518	T	0.439456433057785	0.30409	T	0.671533	0.28021	T	0.11871096	0.27964	0.115826756	0.27960	0.11871096	0.27964	0.115826756	0.27960	-5.157	0.38502	T	.	.	0.149	0.32827	B	.	.	3.377027	0.46690	22.3	0.9382738129940229	0.23812	0.96684	0.70389	D	AEFDBI	0.462193	0.51164	N	0.504858119590089	0.67376	5.073461	0.505796495747461	0.68380	5.212024	0.999999999999766	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.05	5.05	0.67566	3.583000	0.53673	5.742000	0.49579	0.549000	0.26987	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.010	0.89144	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2334.33	37	chr3	49663187	.	C	T	2334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=818;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.175;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	0	1	0
chr3	49663442	49663442	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11284A:p.P3762T	.	420	1078	24	0	0	24	0.0110092	.	.	.	2827428	not_provided|BSN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0108063378822	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0004	0.0023	0.0066	0.0010026	155	154602	rs144229405	0.0006	0.0006	0.0005	0.0008	0.0067	0.0006	0.0006	0.0063	0.0061	0	0.0002	0.0023	5.038e-05	0	0.0019	0.0002	0.0007	0.0067	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0064	0.015	0.52492	D	0.06	0.45744	T	0.079	0.24468	B	0.095	0.30245	B	0.017031	0.27826	N	0.326424	1	0.08975	N	1.87	0.49600	L	2.29	0.17113	T	-1.58	0.38151	N	0.268	0.30347	-1.0552	0.12987	T	0.050	0.21182	T	10	0.0037391782	0.00069	T	0.010806	0.27768	T	0.066	0.19193	.	.	0.226560886239	0.22246	0.09192954584532985	0.09125	0.308978366714	0.33215	0.343515455723	0.16964	T	0.225006	0.58962	T	-0.558339	0.00260	T	-0.570927	0.15365	T	0.0306765184533137	0.02094	T	0.731327	0.34690	T	0.13208981	0.30767	0.108388096	0.26108	0.13208981	0.30767	0.108388096	0.26107	-3.832	0.21283	T	.	.	0.062	0.01309	B	.	.	2.739040	0.35869	20.1	0.7998964767988519	0.12993	0.74041	0.36216	D	AEFDGBI	0.354905	0.44682	N	-0.273314751723846	0.30181	1.680581	-0.219681796617042	0.30831	1.739349	0.999999987122754	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	3.791000	0.55173	2.663000	0.33894	0.599000	0.40250	0.515000	0.27072	0.083000	0.22416	0.994000	0.71098	0.0:1.0:0.0:0.0	17.099	0.86520	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.007576	0.05263	4507.81	37	chr3	49663442	.	C	A	4507.81	.	AC=2;AF=0.053;AN=38;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.43;SOR=1.237	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	1	0	0
chr3	49674589	49674589	A	G	exonic	APEH	.	nonsynonymous SNV	APEH:NM_001640:exon2:c.A113G:p.Q38R	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0105875124332	0.0002	0.000798722	0.0022	0	0.0011	0	0	0.0006	0.0034	0.0081	0.000925	143	154602	rs373871160	0.0007	0.0007	0.0005	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	2.997e-05	0.0002	0.0023	5.132e-05	0	0.0022	0.0002	0.0008	0.0069	0.0004	0.0004	0.0003	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0072	0.214	0.20002	T	0.39	0.15746	T	0.026	0.19406	B	0.007	0.12992	B	0.000166	0.48594	D	0.184382	0.859709	0.35366	D	0.6	0.15550	N	0.95	0.43279	T	-0.68	0.23156	N	0.433	0.48042	-1.0567	0.12595	T	0.044	0.19111	T	10	0.0069631636	0.00158	T	0.010588	0.27302	T	0.123	0.34020	.	.	0.56205713848	0.55868	0.4088749442169822	0.40803	0.326912076486	0.34833	0.654809296131	0.60669	T	0.248251	0.61802	T	-0.419043	0.01734	T	-0.370838	0.36791	T	0.0676119346168108	0.08312	T	0.840116	0.52137	T	0.25801915	0.48849	0.31162238	0.57168	0.25801915	0.48849	0.31162238	0.57167	-1.76	0.02392	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	4.853973	0.79367	27.1	0.9004736317270754	0.19334	0.76614	0.37589	D	ALL	0.546461	0.56055	D	-0.421080291024909	0.24731	1.33748	-0.203554513993897	0.31407	1.77722	0.999999999978632	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	3.76	0.42368	5.050000	0.64066	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8577:0.0:0.0:0.1423	10.777	0.45553	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.000000	0.000000	0.000000	0.000000	0.025862	0.006369	0.007576	0.05263	1577.81	34	chr3	49674589	.	A	G	1577.81	.	AC=2;AF=0.053;AN=38;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.56;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	18	1	0	0
chr3	49684128	49684128	A	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon18:c.T2078G:p.I693R	.	420	1079	23	0	0	23	0.0105456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.209783175871	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1057319	4.791e-06	2.052e-05	5.448e-06	4.127e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.099	0.38891	T	0.942	0.52977	P	0.705	0.54320	P	0.000294	0.46274	D	0.000000	1	0.81001	D	.	.	.	-3.17	0.93054	D	-3.05	0.62976	D	0.892	0.89131	-0.0852	0.80437	T	0.440	0.77833	T	10	0.88283724	0.87600	D	0.209783	0.87217	D	0.905	0.97398	.	.	0.940305963794	0.93968	0.9500131830112917	0.94984	0.784417504062	0.65439	0.657443225384	0.61044	T	.	.	.	0.47166	0.93396	D	0.439731	0.93313	D	0.929950773715973	0.59434	D	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.78393	P	.	.	4.368423	0.67236	25.1	0.98985773057694881	0.49841	0.98639	0.85009	D	AEBCI	0.925398	0.90489	D	0.580109755690605	0.71934	5.727079	0.625255245723132	0.76780	6.554294	0.999999997193309	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	8.777000	0.91421	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.761	0.77846	1	0.99630	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.33	91	chr3	49684128	.	A	C	55.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.646;DP=1202;ExcessHet=0;FS=16.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-13.34;QD=0.26;ReadPosRankSum=2.22;SOR=1.625	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1151	18	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	162.83	60	chr3	49685734	.	T	G	162.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.085;DP=1616;ExcessHet=0.119;FS=21.115;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-15.36;QD=0.3;ReadPosRankSum=-1.936;SOR=3.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,101,1151:.	17	0	2	0
chr3	49718211	49718211	-	GCGGCGGCAGCGGCAGGCACG	exonic	AMIGO3	.	nonframeshift insertion	AMIGO3:NM_198722:exon1:c.1254_1255insCGTGCCTGCCGCTGCCGCCGC:p.R418_W419insRACRCRR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.732e-05	0.0012	0	7.858e-05	0	6.172e-05	3.84e-05	1	26028	rs757049755	5.211e-05	5.204e-05	6e-05	4.413e-05	0.0004	4.268e-05	3.897e-05	0.0002	0.0002	0	2.238e-05	0.0002	0.0004	1.914e-05	0	3.599e-05	8.294e-05	0.0001	7.883e-05	7.879e-05	6.427e-05	9.406e-05	0.0012	4.496e-05	3.512e-05	0.0005	0.0003	0	0	0	0.0003	0.0012	0	0	4.411e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1451.29	35	chr3	49718211	.	A	AGCGGCGGCAGCGGCAGGCACG	1451.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=0.068;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1120	18	0	1	0
chr3	49791440	49791440	C	T	splicing	CDHR4	NM_001007540:exon18:c.2311+1G>A	.	.	.	423	1091	7	1	0	9	0.00410771	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00319489	0.0061	0.0019	0.0098	0	0	0.0122	0.0106	0.0007	0.0013001	201	154602	rs147683073	0.0025	0.0025	0.0025	0.0026	0.0118	0.0025	0.0024	0.0096	0.0087	0.0026	0.0061	0.0338	2.8e-05	6.1e-05	0.0118	0.0018	0.0060	0.0007	0.0033	0.0033	0.0033	0.0032	0.0080	0.0031	0.0030	0.0069	0.0064	0.0022	0	0.0080	0.0277	0	0	0.0479	0.0021	0.0128	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984885	0.40206	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.600851	0.00144	T	-0.630166	0.10402	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.217658	0.28299	17.75	0.61323535665788342	0.06680	0.08362	0.14301	N	AEFDBI	.	.	.	0.117092156748241	0.47261	2.954242	-0.211997840551692	0.31103	1.757218	0.999959909841783	0.48110	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.058706	0.01089	0	0.26604	0.33504	5.59	1.75	0.23707	0.446000	0.21410	0.536000	0.19291	-0.835000	0.02838	0.210000	0.24424	0.071000	0.22219	0.039000	0.14166	0.14:0.5697:0.1356:0.1547	3.179	0.06183	2	0.99499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1564.33	34	chr3	49791440	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=871;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.38;SOR=0.8	GT:AD:DP:GQ:PL	0/1:92,68:160:99:1578,0,2160	18	0	1	0
chr3	49795287	49795287	C	T	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon8:c.G940A:p.G314S	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	.	0.00419329	0.0013	0	0	0.0180	0	0.0005	0	0.0014	0.0004204	65	154602	rs76459693	0.0013	0.0012	0.0013	0.0013	0.0435	0.0013	0.0012	0.0417	0.0409	6.33e-05	5.602e-05	3.971e-05	0.0435	0.0001	0.0004	0.0001	0.0009	0.0011	0.0009	0.0009	0.0008	0.0010	0.0214	0.0008	0.0007	0.0182	0.0170	0.0002	0	6.543e-05	0.0003	0.0214	0	0	0.0002	0.0005	0.0012	0.398	0.10553	T	0.406	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.02	0.85542	D	-0.47	0.15178	N	0.117	0.10626	-0.8567	0.51498	T	0.131	0.44228	T	9	0.0034510195	0.00061	T	.	.	.	0.152	0.39956	.	.	0.225215365344	0.22153	0.3785342843536288	0.37768	0.029538132252	0.03033	0.274319916964	0.06713	T	0.011372	0.10158	T	-0.491902	0.00634	T	-0.430681	0.29859	T	0.00210773391823605	0.00022	T	0.419458	0.11115	T	0.028900255	0.02298	0.036371537	0.03071	0.028900255	0.02298	0.036371537	0.03071	-4.895	0.35678	T	.	.	0.086	0.10545	B	.	.	0.597971	0.09663	6.436	0.53082342919117753	0.04871	0.02197	0.06416	N	AEFDBI	0.054823	0.10002	N	-1.14295017226167	0.05897	0.2700464	-1.11975740200259	0.07323	0.3557643	0.999940820982628	0.47345	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	5.66	0.226	0.14625	0.521000	0.22601	1.625000	0.27708	-0.116000	0.14526	0.000000	0.06391	0.040000	0.21562	0.002000	0.04165	0.2234:0.2428:0.5338:0.0	6.652	0.22157	2	0.99499	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1337.33	35	chr3	49795287	.	C	T	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=737;ExcessHet=0;FS=3.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.863;SOR=1.067	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1356	18	0	1	0
chr3	49795666	49795666	A	G	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon7:c.T809C:p.L270P	.	434	1086	1	1	0	3	0.00137931	.	.	.	3642037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.421882722247	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs780163835	2.501e-05	2.394e-05	1.269e-05	3.767e-05	0.0004	1.816e-05	1.607e-05	0.0003	0.0002	0	0	0	0	0	0	4.634e-06	0	0.0004	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.43708	D	0.005	0.72224	D	0.79	0.44599	P	0.365	0.43339	B	.	.	.	.	0.999998	0.08975	N	1.445	0.36358	L	-1.74	0.83413	D	-2.8	0.59226	D	0.421	0.46086	-0.6911	0.60857	T	0.344	0.70940	T	9	0.4213335	0.56884	T	0.421883	0.93809	D	0.346	0.66769	0.817	0.93127	0.690855691084	0.68820	0.722722451988872	0.72216	0.0840471645538	0.09481	0.405492007732	0.25833	T	0.089292	0.38341	T	-0.216197	0.18514	T	-0.222387	0.52507	T	0.208105482592791	0.20854	T	0.482752	0.14626	T	0.61669123	0.73586	0.62538254	0.78164	0.61669123	0.73587	0.62538254	0.78165	-10.874	0.78962	D	.	.	0.309	0.53671	B	.	.	2.416546	0.31068	18.63	0.98881069606648009	0.47823	0.03072	0.07984	N	AEFDBI	0.095857	0.19360	N	-0.283896862203813	0.29769	1.65388	-0.305199784580227	0.27931	1.553425	0.999983773503394	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	2.78	0.31702	0.796000	0.26646	2.589000	0.33457	0.726000	0.85437	0.001000	0.13787	0.004000	0.18990	0.083000	0.17415	0.7594:0.1565:0.0841:0.0	6.388	0.20775	2	0.99499	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	944.33	36	chr3	49795666	.	A	G	944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.069;DP=732;ExcessHet=0;FS=5.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.736;SOR=0.377	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr3	49967940	49967940	C	T	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.C515T:p.P172L	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0100298902649	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs142246877	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0027	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.001	0.78490	D	0.021	0.64786	D	0.321	0.33029	B	0.062	0.26930	B	0.000894	0.41231	D	0.109289	0.999863	0.81001	D	1.65	0.42232	L	1.43	0.34452	T	-1.85	0.50992	N	0.486	0.52029	-1.0993	0.04177	T	0.083	0.32440	T	9	0.004526913	0.00093	T	0.01003	0.26080	T	0.083	0.24192	.	.	0.15499578495	0.15088	0.14153409268837117	0.14076	0.305705308733	0.32871	0.419859230518	0.27816	T	0.042636	0.26245	T	-0.382983	0.02983	T	-0.319179	0.42666	T	0.0381481344631312	0.03359	T	0.770723	0.40088	T	0.08188415	0.18837	0.20852245	0.45158	0.08188415	0.18837	0.20852245	0.45157	-5.356	0.40494	T	.	.	0.103	0.24599	B	.;.	.;.	3.351299	0.46229	22.3	0.99153785998759991	0.53903	0.90023	0.50882	D	AEFBI	0.339796	0.43682	N	0.143595569422062	0.48509	3.062314	0.316290365851008	0.56498	3.813063	0.999999963288483	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	4.948000	0.63290	3.916000	0.40440	0.599000	0.40250	0.957000	0.33433	0.985000	0.30750	0.998000	0.85391	0.0:1.0:0.0:0.0	20.241	0.98374	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2465.33	39	chr3	49967940	.	C	T	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=815;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=0.755;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	18	0	1	0
chr3	49968422	49968422	G	A	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.G997A:p.E333K	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0143845706614	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs143972186	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0028	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.003	0.68238	D	0.029	0.60972	D	0.997	0.70673	D	0.985	0.76457	D	0.000098	0.51296	D	0.128334	0.999955	0.81001	D	1.67	0.42885	L	1.11	0.38883	T	-0.85	0.26843	N	0.602	0.62781	-0.9783	0.35390	T	0.157	0.48976	T	9	0.009088129	0.00206	T	0.014385	0.34475	T	0.185	0.45933	.	.	0.452650218784	0.44890	0.11714516375178394	0.11642	0.724846526864	0.62416	0.580195665359	0.50113	T	0.024564	0.18538	T	-0.218656	0.18177	T	-0.0831343	0.64675	T	0.0142588193611451	0.00283	T	0.941106	0.80130	D	0.2278714	0.45495	0.30712542	0.56735	0.2278714	0.45495	0.30712542	0.56734	-5.463	0.41521	T	.	.	0.097	0.24767	B	.;.	.;.	4.537798	0.71295	25.7	0.99890397515720919	0.96436	0.96020	0.67171	D	AEFBI	0.584761	0.58345	D	0.581729494852184	0.72037	5.742766	0.632814666593863	0.77337	6.65978	0.999999901186462	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	5.689000	0.67897	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0698:0.0:0.9302:0.0	13.733	0.62284	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1910.33	39	chr3	49968422	.	G	A	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.271;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	18	0	1	0
chr3	50118454	50118454	-	GA	exonic	RBM5	.	nonframeshift insertion	RBM5:NM_005778:exon25:c.2446_2447insGA:p.X816delinsX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0012	0.0006	0.0018	0	0.0009	0	0.0026	0.0001537	4	26028	rs762191784	0.0006	0.0015	0.0005	0.0007	0.0025	0.0005	0.0005	0.0023	0.0022	0.0015	0.0007	7.798e-05	0.0007	0.0002	0.0009	0.0004	0.0006	0.0025	0.0007	0.0008	0.0007	0.0008	0.0034	0.0006	0.0006	0.0022	0.0018	0.0012	0	0.0003	0	0.0004	0	0.0035	0.0005	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1616.43	92	chr3	50118454	.	T	TGA	1616.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=1323;ExcessHet=8.9063;FS=1.618;InbreedingCoeff=-0.401;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=0.889;SOR=0.558	GT:AD:DP:GQ:PL	0/0:53,0:61:99:101,261,1962	18	0	1	0
chr3	50219955	50219955	G	A	exonic	SLC38A3	.	nonsynonymous SNV	SLC38A3:NM_006841:exon15:c.G1381A:p.E461K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	4.104e-06	5.449e-06	1.376e-06	2.52e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.52e-05	0	0	2.699e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	2.595	0.75868	M	.	.	.	.	.	.	0.768	0.76573	.	.	.	.	.	.	.	0.7785865	0.77664	D	.	.	.	.	.	.	.	0.550675598306	0.54725	0.8154444795544619	0.81500	.	.	0.458853423595	0.33153	T	0.15246	0.49287	T	0.319444	0.84433	D	0.221083	0.84230	D	.	.	.	0.910909	0.68443	D	0.28574216	0.51594	0.5078556	0.71557	0.28574216	0.51594	0.5078556	0.71558	-5.355	0.40484	T	.	.	0.619	0.69665	P	.	.	4.909303	0.80764	27.4	0.78035842450204829	0.12128	0.96894	0.71520	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999454	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.092715	0.02821	0	0.975507	0.78449	5.68	5.68	0.88021	9.500000	0.96964	11.740000	0.95175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	17.279	0.87010	3	0.99430	Amino acid transporter, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1607.33	35	chr3	50219955	.	G	A	1607.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=765;ExcessHet=0;FS=0.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.341;SOR=0.589	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1423	18	0	1	0
chr3	50289298	50289298	C	T	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon8:c.G842A:p.G281D	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.223879235158	0.0004	0.000599042	0.0010	0.0005	0.0041	0	0.0005	0.0013	0	0.0003	0.000401	62	154602	rs200964278	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0001	0.0010	0	0	9.605e-05	0.0005	0.0006	0.0007	0.0005	0.0004	0.0004	0.0005	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0005	0	0	0	0	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-0.12	0.64630	T	-6.63	0.92173	D	0.935	0.94077	0.136	0.84808	D	0.508	0.81493	D	10	0.34879106	0.51786	T	0.223879	0.87923	D	0.771	0.92294	.	.	0.913650058545	0.91278	0.8627013955263363	0.86234	.	.	0.782371461391	0.79285	T	0.568111	0.85655	D	0.082294	0.62308	D	0.266172	0.86386	D	0.277674555778503	0.24073	T	0.954105	0.82551	D	0.93165517	0.94402	0.9243303	0.96701	0.93165517	0.94403	0.9243303	0.96702	-15.485	0.96885	D	.	.	0.993	0.94691	P	.;.	.;.	5.002361	0.83007	27.9	0.99829716794358681	0.91198	0.97108	0.72736	D	AEFBCI	0.785544	0.71589	D	0.85114359018627	0.89174	9.864012	0.78670130163603	0.88852	9.741135	0.999999979394153	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.360000	0.65839	5.942000	0.51497	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:1.0:0.0:0.0	16.942	0.86090	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1168.33	35	chr3	50289298	.	C	T	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.605;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.153;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr3	50331570	50331570	C	T	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_001206957:exon3:c.G296A:p.R99H,RASSF1:NM_170713:exon3:c.G539A:p.R180H,RASSF1:NM_007182:exon4:c.G749A:p.R250H,RASSF1:NM_170712:exon4:c.G296A:p.R99H,RASSF1:NM_170714:exon4:c.G761A:p.R254H	Lung cancer, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0628764804876	.	.	8.589e-05	0	0.0006	0	0	3.074e-05	0.0011	0	6.47e-05	10	154602	rs746197371	3.826e-05	3.831e-05	3.986e-05	3.662e-05	0.0008	3.01e-05	2.7e-05	0.0006	0.0005	0	0.0002	0	0.0008	0	0	1.372e-05	0	2.345e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.233e-05	0	0	0	0.0002	0	0	0	0	0	0.067	0.65419	T	0.015	0.63109	D	0.996	0.68779	D	0.912	0.64797	D	0.000001	0.84330	D	0.056105	0.999751	0.49910	D	2.325	0.66631	M	1.55	0.29866	T	-3.72	0.72710	D	0.419	0.59986	-0.9760	0.35904	T	0.132	0.44347	T	10	0.31790304	0.49195	T	0.062876	0.68790	D	0.166	0.42578	.	.	0.588592515688	0.58534	0.44213106978656247	0.44130	1.20683058914	0.80723	0.568078935146	0.48406	T	0.236642	0.60416	T	-0.255433	0.13440	T	-0.349642	0.39245	T	0.880419015884399	0.53043	D	0.933007	0.76420	D	0.19115485	0.40731	0.14852577	0.35105	0.19115485	0.40731	0.14852577	0.35105	-6.992	0.56451	T	.	.	0.097	0.16756	B	.;.;.;.;.	.;.;.;.;.	4.978394	0.82446	27.8	0.99927790204135225	0.99163	0.86872	0.46250	D	AEFGBCI	0.448121	0.50348	N	0.413532397240506	0.62167	4.428109	0.39351756709428	0.61164	4.312817	0.999999812926954	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.37	5.37	0.76949	3.830000	0.55469	5.866000	0.50483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.8341:0.0:0.1659	8.361	0.31518	2	0.99499	.;.;.;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2218.33	33	chr3	50331570	.	C	T	2218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.56;DP=804;ExcessHet=0;FS=2.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.339;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	18	0	1	0
chr3	50340783	50340783	A	G	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_007182:exon1:c.T23C:p.I8T,RASSF1:NM_170714:exon1:c.T23C:p.I8T	Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.850240660668	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336006640	5.876e-06	8.209e-06	8.716e-06	2.972e-06	6.445e-05	2.53e-06	1.83e-06	1.067e-05	3.99e-06	0	0	0	6.445e-05	0	0	4.661e-06	0	1.289e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.351	0.19721	T	0.999	0.77913	D	0.994	0.82059	D	0.014612	0.28482	N	0.295707	0.999987	0.54805	D	1.04	0.26193	L	-1.29	0.79475	T	-1.1	0.28497	N	0.569	0.60579	-0.0752	0.80660	T	0.486	0.80421	T	10	0.6942888	0.72047	D	0.850241	0.98845	D	0.438	0.74235	0.128	0.03331	0.976853939544	0.97660	0.6832497647287618	0.68263	1.2823345532	0.82575	0.926550149918	0.98780	D	0.159459	0.50291	T	0.259577	0.79491	D	0.135088	0.79225	D	0.62740833067999	0.37511	D	0.792821	0.43457	T	0.20659274	0.42839	0.21296301	0.45787	0.20659274	0.42839	0.21296301	0.45786	-4.429	0.29948	T	.	.	0.711	0.77442	P	.;.	.;.	4.584175	0.72443	25.8	0.99623289604939114	0.75533	0.93637	0.58764	D	ALL	0.943435	0.94928	D	0.503117916222944	0.67273	5.059788	0.523629560092051	0.69585	5.381245	0.99999999999998	0.74766	0.685219	0.55550	0	0.52208	0.09955	0	0.674405	0.61402	0	0.56751	0.32155	0	.	.	5.35	5.35	0.76297	7.707000	0.83595	10.978000	0.84582	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8311:0.0:0.0:0.1689	8.738	0.33699	2	0.99499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	33	chr3	50340783	.	A	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.702;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	50375843	50375843	T	C	exonic	CACNA2D2	.	nonsynonymous SNV	CACNA2D2:NM_001005505:exon20:c.A1811G:p.K604R,CACNA2D2:NM_001174051:exon20:c.A1811G:p.K604R,CACNA2D2:NM_001291101:exon20:c.A1604G:p.K535R,CACNA2D2:NM_006030:exon20:c.A1811G:p.K604R	.	.	.	.	.	.	.	.	.	.	.	989694	Developmental_and_epileptic_encephalopathy	MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0136979103269	.	.	1.656e-05	0	0	0.0001	0	0	0	6.057e-05	1.29e-05	2	154602	rs767025665	8.9e-06	8.893e-06	1.226e-05	5.504e-06	6.956e-05	4.97e-06	3.83e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	0	0	2.698e-06	4.969e-05	6.956e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.5	0.10623	T	0.674	0.06245	T	0.003	0.12183	B	0.011	0.16012	B	0.000808	0.41658	D	0.196935	0.961724	0.26875	N	-0.035	0.05024	N	-1.14	0.77843	T	-0.28	0.11728	N	0.228	0.25622	-0.9819	0.34561	T	0.155	0.48636	T	10	0.084077984	0.14054	T	0.013698	0.33301	T	0.169	0.43123	0.496	0.58520	0.161926535498	0.15789	0.6688133414222553	0.66819	0.393146132386	0.40487	0.376305580139	0.21732	T	0.007096	0.34833	T	-0.27748	0.10938	T	-0.454829	0.27166	T	0.238903194665909	0.22369	T	0.733627	0.34942	T	0.03040277	0.02698	0.037925053	0.03550	0.03040277	0.02698	0.037925053	0.03549	-4.931	0.36082	T	.	.	0.064	0.01810	B	.;.;.;.;.;.	.;.;.;.;.;.	1.087708	0.14711	11.26	0.97390264195632659	0.33721	0.13639	0.17969	N	AEFDGBHCI	0.080142	0.16200	N	-0.817710527228881	0.12857	0.6295158	-0.692606810557408	0.17145	0.9103401	0.999903638804757	0.45458	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.562822	0.20929	0	.	.	4.68	-0.436	0.11663	0.276000	0.18478	-0.291000	0.10192	0.665000	0.62972	0.982000	0.35529	0.026000	0.21063	0.999000	0.91618	0.0:0.4496:0.1413:0.4091	6.686	0.22333	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3567.33	36	chr3	50375843	.	T	C	3567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.955;DP=900;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.063;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr3	50608381	50608381	C	T	exonic	CISH	.	nonsynonymous SNV	CISH:NM_145071:exon2:c.G233A:p.R78Q,CISH:NM_013324:exon3:c.G284A:p.R95Q	.	410	1109	3	0	0	3	0.00135074	.	.	.	734170	not_provided|CISH-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.173	.	0.0002	0.00279553	0.0007	0	0	0.0070	0	0.0004	0	0.0004	0.000705	109	154602	rs148162012	0.0005	0.0005	0.0005	0.0005	0.0110	0.0005	0.0005	0.0102	0.0098	0	4.754e-05	0.0039	0.0110	0	0	0.0001	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0108	0.0005	0.0005	0.0085	0.0077	0	0	6.533e-05	0.0052	0.0108	9.409e-05	0	0.0002	0	0.0012	0.211	0.23905	T	0.374	0.16280	T	0.474	0.36620	P	0.056	0.26147	B	0.001454	0.38980	N	0.270973	0.99837	0.44834	D	2.045	0.56016	M	0.95	0.43279	T	-0.29	0.11728	N	0.409	0.44952	-1.0408	0.17071	T	0.047	0.20077	T	10	0.008878231	0.00201	T	.	.	.	0.173	0.43840	.	.	0.507748507896	0.50414	0.33194288116426274	0.33107	0.444199936278	0.44336	0.627451002598	0.56784	T	0.043297	0.26455	T	-0.446628	0.01182	T	-0.4092	0.32318	T	0.0521514234120675	0.05873	T	0.846915	0.52723	T	0.10873826	0.25710	0.08687597	0.20157	0.10873826	0.25710	0.08687597	0.20157	-2.912	0.09264	T	.	.	0.098	0.18164	B	.;.	.;.	3.402400	0.47155	22.4	0.99805905586378874	0.88995	0.91815	0.54322	D	AEFBCI	0.416505	0.48493	N	0.0747070626100613	0.45285	2.787593	0.248532177086461	0.52566	3.430639	0.999999997210691	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	3.433000	0.52597	3.844000	0.40055	0.599000	0.40250	0.987000	0.36337	0.999000	0.35428	0.995000	0.73285	0.0:1.0:0.0:0.0	20.177	0.98183	9	0.99126	.;CIS, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1367.33	40	chr3	50608381	.	C	T	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=839;ExcessHet=0;FS=5.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.194;SOR=1.246	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr3	50647150	50647150	C	T	exonic	MAPKAPK3	.	nonsynonymous SNV	MAPKAPK3:NM_001243925:exon10:c.C943T:p.L315F,MAPKAPK3:NM_004635:exon10:c.C943T:p.L315F,MAPKAPK3:NM_001243926:exon12:c.C943T:p.L315F	.	421	1100	1	0	0	1	0.000454339	.	.	.	989706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.323	0.0595736929588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868590760	2.774e-06	3.42e-06	0	5.593e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.557e-05	0	0	0	2.574e-05	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.28	0.90206	M	0.7	0.51474	T	-3.66	0.70067	D	0.784	0.78072	-0.3248	0.74287	T	0.363	0.72445	T	10	0.5527941	0.64350	D	0.059574	0.67710	D	0.323	0.64522	0.493	0.58048	0.685509544888	0.68282	0.5607024582646079	0.55997	1.37639475624	0.84676	0.649191737175	0.59872	T	0.361559	0.72762	T	0.0737205	0.61296	D	-0.131882	0.60813	T	0.981496930122375	0.73944	D	0.995	0.98337	D	0.54363614	0.69600	0.5904981	0.76240	0.54363614	0.69601	0.5904981	0.76241	-8.26	0.62828	D	.	.	0.854	0.93569	P	.;.;.;.	.;.;.;.	4.921114	0.81058	27.5	0.99897941014070324	0.97048	0.96480	0.69349	D	AEFDBI	0.587563	0.58517	D	0.834429062185636	0.88205	9.49143	0.802118846227818	0.89941	10.18652	0.999999999550423	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	5.029000	0.63903	6.007000	0.52582	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	20.190	0.98228	7	0.99271	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2176.33	159	chr3	50647150	.	C	T	2176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.355;DP=876;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.686;SOR=0.635	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1406	18	0	1	0
chr3	51391745	51391745	C	T	exonic	RBM15B	.	nonsynonymous SNV	RBM15B:NM_013286:exon1:c.C346T:p.P116S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0739074726204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176113524	2.085e-05	2.531e-05	1.858e-05	2.315e-05	0.0004	1.463e-05	1.265e-05	7.109e-05	2.962e-05	0	2.68e-05	0.0002	0	0	0.0004	1.655e-05	5.217e-05	1.24e-05	1.317e-05	1.314e-05	2.574e-05	0	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.373	0.11442	T	0.725	0.05256	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.59	0.13317	T	0.15	0.05310	N	0.2	0.22098	-0.9600	0.39181	T	0.017	0.07045	T	9	0.102377534	0.18760	T	0.073907	0.71909	D	.	.	0.35	0.34760	0.28494636882	0.28116	0.2821836856041985	0.28131	.	.	0.889254331589	0.95168	D	0.024832	0.18689	T	-0.224767	0.17346	T	-0.560639	0.16317	T	0.0359294321591734	0.02969	T	0.481052	0.14533	T	0.06940628	0.15202	0.072599076	0.15682	0.06940628	0.15202	0.072599076	0.15682	-6.391	0.49440	T	.	.	0.081	0.08272	B	.	.	2.756253	0.36138	20.2	0.96561971847497641	0.30265	0.08040	0.14016	N	AEFDBHCIJ	0.072224	0.14407	N	-1.02000904160627	0.08189	0.3830967	-0.969748053429826	0.10469	0.5274379	0.99999997602965	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.66	2.76	0.31527	0.789000	0.26547	3.470000	0.38575	0.446000	0.21189	0.985000	0.35982	0.975000	0.29991	0.933000	0.47100	0.1838:0.8162:0.0:0.0	11.335	0.48736	7	0.99271	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	829.33	38	chr3	51391745	.	C	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.37;DP=700;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.66;SOR=0.968	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1116	18	0	1	0
chr3	51829696	51829696	G	T	exonic	IQCF3	.	nonsynonymous SNV	IQCF3:NM_001085479:exon6:c.G50T:p.R17I,IQCF3:NM_001207023:exon6:c.G50T:p.R17I	.	408	1098	16	0	0	16	0.00723327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0009	0.00359425	0.0033	0	0.0007	0.0001	0.0002	0.0017	0.0024	0.0175	0.0028201	436	154602	rs201305590	0.0018	0.0018	0.0013	0.0024	0.0169	0.0018	0.0018	0.0161	0.0159	8.963e-05	0.0005	0.0088	2.519e-05	0.0004	0.0080	0.0007	0.0024	0.0169	0.0014	0.0014	0.0010	0.0018	0.0162	0.0012	0.0012	0.0133	0.0122	7.217e-05	0.0011	0.0007	0.0092	0	0.0003	0	0.0012	0.0014	0.0162	0.028	0.46129	D	0.13	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.39	0.33842	T	-0.77	0.96495	N	0.219	0.36884	-1.0412	0.16951	T	0.031	0.13242	T	9	0.0038856268	0.00074	T	.	.	.	0.027	0.05988	.	.	0.0920862733494	0.08535	0.039497915795247085	0.03895	0.36538535664	0.38135	0.321182668209	0.13601	T	0.014567	0.12376	T	-0.646992	0.00075	T	-0.68851	0.06476	T	0.010346648393807	0.00141	T	0.536546	0.20426	T	0.051029682	0.09311	0.05201158	0.08486	0.051029682	0.09310	0.05201158	0.08486	-6.331	0.48967	T	.	.	0.098	0.69210	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.238427	0.00494	0.011	0.85686116361670706	0.16048	0.00913	0.03561	N	AEFBI	0.032840	0.03785	N	-1.9154874713227	0.00319	0.01370181	-2.02509407177228	0.00271	0.01195088	0.938324185053291	0.27338	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.79	-7.58	0.01172	-2.441000	0.01091	-4.491000	0.02129	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3809:0.1729:0.1224:0.3238	0.695	0.00840	183	0.92871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.000000	0.001359	0.002924	0.000000	0.008621	0.003067	0.015152	0.02632	1719.33	35	chr3	51829696	.	G	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=767;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.386;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1255	18	0	1	0
chr3	51863174	51863174	A	G	exonic	IQCF2	.	nonsynonymous SNV	IQCF2:NM_203424:exon3:c.A299G:p.E100G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.012487695855	7.7e-05	.	0.0001	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs372504942	7.046e-05	7.046e-05	7.214e-05	6.875e-05	0.0007	5.913e-05	5.522e-05	0.0005	0.0004	0	0.0007	0	0	1.872e-05	0.0007	5.396e-05	0.0001	0	9.857e-05	9.851e-05	2.57e-05	0.0002	0.0003	6.007e-05	4.88e-05	9.047e-05	7.012e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.043	0.41364	D	0.014	0.62352	D	0.992	0.64738	D	0.952	0.69102	D	0.016255	0.28027	N	0.257228	0.998349	0.22212	N	3.245	0.89746	M	1.7	0.26885	T	-5.46	0.85541	D	0.427	0.46649	-1.0163	0.24916	T	0.135	0.44933	T	10	0.2428062	0.41484	T	0.012488	0.31109	T	0.120	0.33359	.	.	0.197625483188	0.19356	0.17282140100280122	0.17202	0.950846693469	0.72616	0.387574642897	0.23327	T	0.163197	0.50816	T	-0.345775	0.04997	T	-0.356188	0.38493	T	0.751821935176849	0.43386	D	0.50295	0.15803	T	0.18000539	0.39099	0.35249388	0.60826	0.18000539	0.39099	0.35249388	0.60826	-7.685	0.58903	D	.	.	0.366	0.57585	A	.	.	3.577123	0.50415	22.9	0.99818368682342296	0.90150	0.68992	0.34013	D	AEFDBI	0.090880	0.18412	N	0.284830955384272	0.55380	3.702018	0.174610462084896	0.48459	3.061612	0.00159472813996148	0.08681	0.487112	0.14033	0	0.547309	0.14657	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	4.95	2.45	0.28953	0.652000	0.24573	3.430000	0.38309	0.756000	0.94297	0.951000	0.33123	0.148000	0.23153	0.871000	0.41478	0.6558:0.0:0.0:0.3442	7.558	0.27002	237	0.90758	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	33	chr3	51863174	.	A	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.871;DP=743;ExcessHet=0;FS=4.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.131;SOR=0.812	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1214	18	0	1	0
chr3	51989026	51989026	G	A	exonic	ABHD14A-ACY1;ACY1	.	nonsynonymous SNV	ACY1:NM_001198896:exon13:c.G962A:p.R321H,ACY1:NM_001198897:exon13:c.G983A:p.R328H,ACY1:NM_001198898:exon14:c.G1073A:p.R358H,ACY1:NM_000666:exon15:c.G1178A:p.R393H,ACY1:NM_001198895:exon15:c.G1178A:p.R393H,ABHD14A-ACY1:NM_001316331:exon17:c.G1448A:p.R483H	.	0	1519	3	0	0	3	0.000986518	.	.	.	33153	not_specified|not_provided|Aminoacylase_1_deficiency|ACY1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.322	0.0221070693253	0.0046	0.00279553	0.0040	0.0006	0.0012	0.0003	0.0065	0.0061	0.0033	0.0004	0.0040556	627	154602	rs121912701	0.0042	0.0042	0.0044	0.0040	0.0047	0.0041	0.0041	0.0046	0.0046	0.0007	0.0015	0.0075	7.557e-05	0.0056	0.0016	0.0047	0.0039	0.0003	0.0034	0.0034	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0009	0	0.0014	0.0078	0	0.0040	0.0034	0.0056	0.0019	0.0004	0.271	0.47320	T	0.183	0.45110	T	0.987	0.61912	D	0.79	0.57710	P	0.127522	0.18764	N	0.555850	1.63594e-06	0.08975	A	0.47	0.13106	N	0.58	0.54149	T	-1.37	0.42957	N	0.706	0.70966	-0.7520	0.57830	T	0.122	0.42441	T	9	0.06689611	0.09244	T	0.022107	0.44964	T	0.322	0.64420	.	.	0.411265580357	0.40742	0.5421054336288056	0.54135	0.623418994379	0.63515	0.280049979687	0.07499	T	0.216745	0.57900	T	-0.357922	0.04248	T	-0.276518	0.47161	T	0.0429165743705527	0.04221	T	0.79972	0.46506	T	0.17550808	0.38413	0.090769485	0.21305	0.17550808	0.38413	0.090769485	0.21304	-5.584	0.46514	T	0.13250981941009074	0.14135	0.071	0.13690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.546571	0.19829	14.46	0.99407731860301507	0.63122	0.13376	0.17820	N	AEFDBHCI	0.519045	0.54448	D	-0.662005241832962	0.17111	0.877753	-0.796424197371175	0.14583	0.7626883	0.999998325056083	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.37	-0.979	0.09751	0.093000	0.14925	-2.115000	0.04190	-1.796000	0.00631	0.000000	0.06391	0.000000	0.08366	0.447000	0.27828	0.5807:0.0:0.4193:0.0	11.480	0.49568	173	0.93306	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3036.83	44	chr3	51989026	.	G	A	3036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.004;DP=932;ExcessHet=0.119;FS=2.15;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.467;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1359	17	0	2	0
chr3	51993838	51993849	CCTTGGCCTTGG	-	exonic	RPL29	.	nonframeshift deletion	RPL29:NM_000992:exon4:c.380_391del:p.A127_K130del	.	605	636	130	74	77	355	0.179355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0105	.	0.0019	0.0190	0.0012	0.0005	0	0.0007	0	0.0003	0.0002305	6	26028	rs567070035	0.0010	0.0011	0.0011	0.0009	0.0208	0.0009	0.0009	0.0195	0.0190	0.0208	0.0014	0.0004	0.0016	0.0001	0.0044	0.0004	0.0021	0.0004	0.0100	0.0100	0.0099	0.0101	0.0337	0.0096	0.0094	0.0322	0.0316	0.0337	0	0.0022	0.0003	0.0027	9.47e-05	0.0034	0.0007	0.0096	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6586.2	33	chr3	51993837	.	TCCTTGGCCTTGG	T	6586.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=590;ExcessHet=0.6984;FS=0.455;InbreedingCoeff=0.0952;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=0;QD=23.52;ReadPosRankSum=-0.679;SOR=0.639	GT:AD:DP:GQ:PL	0/1:18,9:27:99:315,0,708	18	0	1	0
chr3	52229932	52229932	G	A	exonic	TWF2	.	nonsynonymous SNV	TWF2:NM_007284:exon7:c.C748T:p.L250F	.	413	1108	0	1	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0597093969895	.	0.000798722	0.0003	0	0	0.0021	0.0003	0.0001	0.0011	0.0007	0.000304	47	154602	rs114956852	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0031	0.0029	0	0	0	0.0036	0.0002	0	6.569e-05	0.0004	0.0005	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0	0	0.0041	0.0003	0	0.0001	0.0005	0.0012	0.076	0.34269	T	0.104	0.50226	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	0.999579	0.47641	D	2.11	0.58565	M	1.14	0.38397	T	-2.13	0.48354	N	0.638	0.67995	-1.0366	0.18357	T	0.069	0.28280	T	9	0.035268128	0.01767	T	0.059709	0.67757	D	0.166	0.42578	.	.	0.57016763796	0.56682	0.3182430016360264	0.31737	0.359210506715	0.37617	0.699607074261	0.67086	T	0.359692	0.72605	T	-0.272249	0.11508	T	-0.182858	0.56258	T	0.0585186945837101	0.06934	T	0.971703	0.89738	D	0.11959023	0.28157	0.112725966	0.27200	0.11959023	0.28157	0.112725966	0.27199	-10.593	0.77380	D	.	.	0.226	0.45798	B	.;.	.;.	3.727352	0.53295	23.3	0.99858414765134484	0.93729	0.98387	0.82258	D	AEFDBI	0.625184	0.60848	D	-0.00690446045033224	0.41542	2.486675	0.00497587016708748	0.39945	2.376234	0.999999771922814	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	3.959000	0.56451	5.819000	0.50068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.165:0.0:0.835:0.0	9.024	0.35377	154	0.93967	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain;Actin-depolymerising factor homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	4088.81	37	chr3	52229932	.	G	A	4088.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.45;SOR=1.591	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	1	0	0
chr3	52372236	52372236	A	G	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon43:c.A6676G:p.I2226V	.	416	1093	13	0	0	13	0.00591178	.	.	.	453247	not_provided|Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MedGen:C3661900|MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0062	0.00199681	0.0059	0.0010	0.0014	0	0.0076	0.0079	0.0079	0.0059	0.0057632	891	154602	rs112505934	0.0071	0.0071	0.0071	0.0072	0.0079	0.0070	0.0070	0.0078	0.0077	0.0011	0.0024	0.0062	0	0.0063	0.0033	0.0079	0.0073	0.0058	0.0053	0.0053	0.0053	0.0053	0.0083	0.0050	0.0049	0.0077	0.0075	0.0012	0.0429	0.0027	0.0061	0.0002	0.0057	0	0.0083	0.0014	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000781	0.41888	U	0.000000	0.976029	0.39239	D	.	.	.	2.33	0.16492	T	0.15	0.05310	N	0.274	0.31027	-0.9585	0.39461	T	0.008	0.02842	T	10	0.011133552	0.00245	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.28984887749406174	0.28897	0.10357624358	0.11719	0.292885124683	0.09345	T	.	.	.	-0.603439	0.00139	T	-0.63261	0.10218	T	3.5456228943076e-05	0.00000	T	0.820118	0.47860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01491	B	.	.	0.837653	0.12093	8.645	0.68054314344574773	0.08541	0.67016	0.33281	D	AEFDGBI	0.141527	0.26373	N	-0.847241378410047	0.12117	0.5887538	-0.647784528518466	0.18273	0.9754083	0.64026108865765	0.22047	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.59522	0.37078	0	.	.	4.36	1.88	0.24630	0.910000	0.28193	0.019000	0.13561	-0.113000	0.14837	0.997000	0.40164	0.000000	0.08366	0.834000	0.39329	0.7456:0.1671:0.0873:0.0	5.862	0.18004	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.005435	0.002924	0.050000	0.000000	0.003049	0.003788	0.02632	1282.33	33	chr3	52372236	.	A	G	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.984;DP=746;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.438;SOR=0.9	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1250	18	0	1	0
chr3	52381790	52381790	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon49:c.G7759A:p.V2587M	.	427	1094	1	0	0	1	0.00045683	.	.	.	1025428	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0297846431255	.	.	0.0004	0	0	0.0010	0	0.0001	0	0.0014	0.0001746	27	154602	rs747611842	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0010	0.0009	0.0001	0	7.724e-05	0.0013	0	0	5.865e-05	0.0001	0.0006	3.284e-05	3.283e-05	6.421e-05	0	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	7.235e-05	0	0	0	0	0	0	0	0	0.0004	0.265	0.16305	T	0.134	0.34241	T	.	.	.	.	.	.	0.000285	0.46274	D	0.000000	1	0.81001	D	.	.	.	1.02	0.40749	T	-0.98	0.25986	N	0.474	0.50958	-0.8120	0.54429	T	0.181	0.52874	T	10	0.13129309	0.24987	T	0.029785	0.52230	D	0.178	0.44724	0.405	0.43738	0.557597400255	0.55419	0.6284365031234221	0.62776	0.478096384883	0.46899	0.68270534277	0.64657	T	.	.	.	-0.342247	0.05233	T	-0.349896	0.39218	T	0.191265766913982	0.19918	T	0.851815	0.53646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31633	B	.	.	2.998526	0.40058	21.1	0.99262180517214349	0.57255	0.98240	0.80839	D	AEFDBI	0.747198	0.68933	D	0.358605523059313	0.59196	4.096976	0.340688412211882	0.57948	3.962779	0.99999789500014	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.19	4.33	0.51083	5.913000	0.69690	7.402000	0.58581	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0722:0.0:0.9278:0.0	14.113	0.64666	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1587.33	35	chr3	52381790	.	G	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=729;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=1.79;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr3	52396383	52396383	C	T	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon71:c.C11275T:p.R3759C	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.0780119977188	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs540632160	4.204e-06	6.156e-06	8.327e-06	0	5.338e-05	1.51e-06	9.9e-07	8.84e-06	3.31e-06	3.07e-05	0	0	5.338e-05	0	0	9.128e-07	1.691e-05	1.23e-05	1.314e-05	1.313e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.4	0.33630	T	-7.49	0.95015	D	0.97	0.98065	0.184	0.85635	D	0.384	0.73973	T	10	0.8924437	0.88590	D	0.078012	0.72905	D	0.551	0.81427	.	.	0.72188249907	0.71942	0.8943862598346876	0.89409	0.681907863845	0.60075	0.847870707512	0.89292	D	.	.	.	0.255078	0.79073	D	0.128625	0.78802	D	0.999547302722931	0.97846	D	0.984402	0.94639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.75291	P	.	.	6.357842	0.95076	34	0.99922860756898146	0.98852	0.96930	0.71719	D	AEFBI	0.585702	0.58402	D	0.804289644564848	0.86373	8.864857	0.659205729038897	0.79298	7.052911	0.999650465455725	0.41424	0.660377	0.49826	0	0.694456	0.67091	0	0.608075	0.38828	0	0.664235	0.64389	0	.	.	4.35	4.35	0.51454	2.951000	0.48782	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	17.068	0.86439	68	0.97118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1917.81	38	chr3	52396383	.	C	T	1917.81	.	AC=2;AF=0.053;AN=38;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.96;SOR=1.46	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1156	18	1	0	0
chr3	52398090	52398090	A	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon75:c.A12017C:p.Q4006P	.	.	.	.	.	.	.	.	.	.	.	989733	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_specified|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.00889820256379	7.7e-05	.	4.986e-05	0	0	0	0	9.024e-05	0	0	5.17e-05	8	154602	rs369197857	9.989e-05	9.987e-05	9.258e-05	0.0001	0.0002	8.647e-05	8.135e-05	0.0001	9.743e-05	0	6.71e-05	0	0	0	0.0002	0.0001	0.0001	0	6.569e-05	6.566e-05	6.422e-05	6.724e-05	0.0001	3.516e-05	2.616e-05	4.764e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.032	0.44694	D	0.2	0.27591	T	.	.	.	.	.	.	0.378945	0.13417	N	0.685638	0.985635	0.40312	D	.	.	.	3.1	0.08283	T	-3.15	0.64132	D	0.446	0.48411	-1.0282	0.21038	T	0.021	0.08732	T	10	0.14725587	0.27906	T	0.008898	0.23463	T	0.145	0.38592	.	.	0.215109475489	0.21095	0.6912927649491258	0.69069	0.155391498231	0.17539	0.290194749832	0.08950	T	.	.	.	-0.320278	0.06874	T	-0.461165	0.26471	T	0.0538143892499847	0.06158	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06525	B	.	.	1.691224	0.21548	15.25	0.86030057593435638	0.16267	0.72285	0.35386	D	AEFDCI	0.436897	0.49692	N	-0.715799860859892	0.15577	0.7862718	-0.70808666311485	0.16759	0.8880857	0.998936130289044	0.38009	0.660377	0.49826	0	0.606735	0.50208	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	5.06	2.61	0.30255	3.333000	0.51806	3.309000	0.37448	-0.054000	0.16847	0.771000	0.29368	0.014000	0.20376	0.097000	0.18139	0.7876:0.1396:0.0728:0.0	7.753	0.28076	68	0.97118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1299.33	127	chr3	52398090	.	A	C	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=782;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.262;SOR=0.533	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1367	18	0	1	0
chr3	52442890	52442890	G	A	exonic	SEMA3G	.	nonsynonymous SNV	SEMA3G:NM_020163:exon2:c.C133T:p.R45C	.	417	1101	4	0	0	4	0.00181324	.	.	.	3601943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.325	0.0927602468743	.	.	3.31e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs756251735	1.173e-05	1.163e-05	8.227e-06	1.528e-05	8.317e-05	7.15e-06	5.84e-06	3.849e-05	2.715e-05	0	0	0	0	0	0	8.138e-06	1.672e-05	8.317e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	0	0	0.0002	0.035	0.65419	D	0.047	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.002924	0.35704	N	0.216523	0.999955	0.52396	D	2.595	0.75868	M	1.87	0.24085	T	-3.17	0.69835	D	0.823	0.81857	-0.8439	0.52386	T	0.162	0.49847	T	10	0.42082208	0.56851	T	0.09276	0.75949	D	0.325	0.64725	0.536	0.64585	0.543561272632	0.54008	0.8509915681883926	0.85061	0.883893223361	0.69880	0.651868581772	0.60250	T	0.068859	0.38977	T	0.11472	0.65838	D	-0.0729895	0.65412	T	0.941725134849548	0.61524	D	0.929807	0.77081	D	0.14281641	0.32851	0.17369232	0.39713	0.14281641	0.32850	0.17369232	0.39712	-8.947	0.67355	D	.	.	0.232	0.56863	B	.;.	.;.	6.181853	0.94741	34	0.99910473049066417	0.98022	0.85633	0.44787	D	AEFDBI	0.421174	0.48770	N	0.533420862692859	0.69081	5.306349	0.450257162285572	0.64732	4.735429	0.999994282421895	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	4.93	4.06	0.46572	3.289000	0.51454	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0878:0.0:0.9122:0.0	11.078	0.47259	68	0.97118	Sema domain;Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1309.33	35	chr3	52442890	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=795;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.15;SOR=0.5	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	18	0	1	0
chr3	52485779	52485779	C	T	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon15:c.C1655T:p.A552V	.	415	1076	29	2	0	33	0.015103	0.0001	0.048	.	708976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0016	0.00379393	0.0087	0.0006	0.0106	0	0	0.0053	0.004	0.0192	0.0026649	412	154602	rs145370808	0.0028	0.0029	0.0025	0.0032	0.0144	0.0028	0.0027	0.0137	0.0134	0.0003	0.0024	0.0016	0.0001	9.795e-05	0.0073	0.0023	0.0035	0.0144	0.0021	0.0021	0.0020	0.0021	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0024	0.0020	0.0004	9.42e-05	0.0034	0.0027	0.0028	0.0139	0.434	0.09430	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.760350	0.09628	N	0.885461	0.967293	0.25855	N	0.55	0.14455	N	3.24	0.06845	T	-0.31	0.12099	N	0.215	0.24010	-0.9191	0.45675	T	0.007	0.02439	T	10	0.0030722618	0.00051	T	.	.	.	0.018	0.03083	.	.	0.102598925029	0.09809	0.2263066253576028	0.22545	0.41680062442	0.42316	0.34879937768	0.17745	T	0.046095	0.27320	T	-0.647012	0.00075	T	-0.68984	0.06399	T	0.000702881056771046	0.00006	T	0.638636	0.25202	T	0.022411427	0.00902	0.032923006	0.02105	0.022411427	0.00902	0.032923006	0.02104	-4.194	0.26665	T	.	.	0.072	0.04599	B	.;.	.;.	1.995832	0.25356	16.73	0.1049769887297079	0.00134	0.35386	0.25290	N	AEFBI	0.043549	0.06897	N	-0.802405481257783	0.13249	0.651333	-0.683131908689011	0.17382	0.924025	0.826187499843318	0.24611	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.24	2.42	0.28720	0.985000	0.29177	1.384000	0.26059	0.599000	0.40250	0.807000	0.29812	1.000000	0.68203	0.307000	0.24666	0.0:0.7672:0.0:0.2328	6.156	0.19554	74	0.96871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007606	0.000000	0.005479	0.011696	0.000000	0.008621	0.012346	0.003788	0.02632	2030.33	33	chr3	52485779	.	C	T	2030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.238;DP=809;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.253;SOR=0.53	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr3	52491908	52491908	G	T	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon21:c.G3941T:p.R1314L	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0249423898914	.	.	0.0004	0	0.0003	0	0	6.123e-05	0.0012	0.0024	0.0002652	41	154602	rs201606509	0.0001	0.0001	8.726e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0.0002	0	0	0.0005	1.531e-05	0.0002	0.0021	0.0001	0.0001	8.993e-05	0.0001	0.0015	6.506e-05	5.318e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0.0102	2.94e-05	0.0005	0.0015	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.891	0.63213	P	0.000001	0.84330	D	0.051757	0.999043	0.45943	D	1.65	0.42232	L	3.03	0.08898	T	-3.35	0.66436	D	0.487	0.52119	-1.1698	0.00543	T	0.045	0.19316	T	10	0.028581738	0.00989	T	0.024942	0.47924	T	0.184	0.45763	0.423	0.46693	0.134007934775	0.12933	0.6280868978715021	0.62741	1.35666730936	0.84197	0.372727304697	0.21222	T	0.354904	0.72199	T	-0.388089	0.02767	T	-0.335477	0.40855	T	0.144151980956503	0.16628	T	0.928207	0.73493	D	0.4698201	0.65279	0.45103255	0.68057	0.4698201	0.65279	0.45103255	0.68058	-11.341	0.81495	D	.	.	0.492	0.64210	A	.;.	.;.	3.415274	0.47393	22.4	0.99849000023292678	0.92838	0.88735	0.48806	D	AEFGBCI	0.754095	0.69408	D	0.503013882806651	0.67266	5.058982	0.536712055303781	0.70478	5.511224	0.999999998671246	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.6	5.6	0.84997	2.831000	0.47845	7.558000	0.60417	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	19.611	0.95600	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	5124.81	39	chr3	52491908	.	G	T	5124.81	.	AC=2;AF=0.053;AN=38;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.23;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	1	0	0
chr3	52501750	52501750	C	T	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon3:c.C328T:p.H110Y	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0055	0.00778754	0.0146	0.0086	0.0043	0	0.0060	0.0061	0.0048	0.0302	0.0047283	731	154602	rs138055453	0.0066	0.0065	0.0061	0.0071	0.0249	0.0065	0.0064	0.0240	0.0236	0.0088	0.0025	0.0016	0.0006	0.0016	0.0064	0.0058	0.0066	0.0249	0.0060	0.0060	0.0058	0.0062	0.0228	0.0057	0.0055	0.0193	0.0180	0.0082	0	0.0039	0.0020	0.0014	0.0018	0.0034	0.0054	0.0024	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006599	0.31929	N	0.267885	0.985305	0.24723	N	-1.935	0.00224	N	-1.8	0.83893	D	2.09	0.00367	N	0.253	0.28616	-0.9010	0.47889	T	0.099	0.36932	T	10	0.006114602	0.00138	T	.	.	.	0.151	0.39764	.	.	0.435590266561	0.43178	0.7307644744657892	0.73021	0.232899817162	0.25826	0.479709684849	0.36017	T	0.049443	0.28307	T	-0.427664	0.01532	T	-0.368162	0.37104	T	0.00039861538395269	0.00003	T	0.0353298	0.00239	T	0.03496488	0.04025	0.045913834	0.06285	0.03496488	0.04025	0.045913834	0.06285	-6.591	0.50984	T	.	.	0.048	0.00092	B	.	.	1.051579	0.14328	10.90	0.427189866574537	0.03168	0.01428	0.04809	N	AEFBI	0.062788	0.12091	N	-1.04483334277099	0.07689	0.3580576	-0.780515850165557	0.14973	0.7851391	0.999770935207612	0.42865	0.67177	0.52595	0	0.547309	0.14657	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	0.929000	0.28445	2.326000	0.32165	-0.108000	0.15293	0.763000	0.29277	1.000000	0.68203	0.083000	0.17415	0.0:0.1019:0.0:0.8981	7.260	0.25372	84	0.96491	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008673	0.005155	0.006849	0.005952	0.000000	0.000000	0.003125	0.015267	0.02632	1042.33	36	chr3	52501750	.	C	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.154;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.356;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1286	18	0	1	0
chr3	52512856	52512856	G	A	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon29:c.G3056A:p.R1019H	.	365	1134	21	2	0	25	0.0109027	.	.	.	698236	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0039	0.00778754	0.0070	0.0010	0.0019	0.0002	0.0015	0.0050	0.0023	0.0275	0.0063453	981	154602	rs150311081	0.0063	0.0063	0.0057	0.0069	0.0246	0.0062	0.0061	0.0237	0.0234	0.0007	0.0020	0.0015	0.0004	0.0014	0.0047	0.0058	0.0058	0.0246	0.0039	0.0040	0.0038	0.0041	0.0235	0.0037	0.0036	0.0200	0.0187	0.0010	0	0.0031	0.0020	0.0012	0.0018	0.0034	0.0053	0.0019	0.0235	0.047	0.40319	D	0.011	0.64786	D	0.0	0.02946	B	0.002	0.06944	B	0.780586	0.06652	N	1.092920	1	0.08975	N	0.6	0.15550	N	-2.87	0.91478	D	-0.53	0.16393	N	0.172	0.18376	-0.5686	0.66071	T	0.434	0.77465	T	10	0.0047327876	0.00100	T	.	.	.	0.131	0.35738	.	.	0.481543764896	0.47786	0.653500378001125	0.65286	0.249637812395	0.27546	0.22370660305	0.01534	T	0.210043	0.57042	T	-0.442554	0.01249	T	-0.38955	0.34605	T	0.00556040071942966	0.00061	T	0.278772	0.04827	T	0.032839213	0.03386	0.03432039	0.02478	0.032839213	0.03385	0.03432039	0.02478	-4.847	0.35134	T	.	.	0.070	0.03336	B	.	.	1.875320	0.23824	16.16	0.9715612980354309	0.32607	0.10570	0.16040	N	AEFDBHCI	0.151095	0.27551	N	-1.0358706963245	0.07867	0.3669483	-1.01246301995592	0.09510	0.4735894	0.999975545097058	0.50053	0.67177	0.52595	0	0.578056	0.33634	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	5.84	1.8	0.24069	0.386000	0.20429	2.080000	0.30490	-0.119000	0.14319	0.000000	0.06391	0.032000	0.21310	0.036000	0.13842	0.1541:0.2764:0.5694:0.0	6.607	0.21924	83	0.96533	FAS1 domain|FAS1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.001362	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	710.33	39	chr3	52512856	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=723;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.049;SOR=0.783	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr3	52520095	52520095	G	A	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon51:c.G5387A:p.R1796Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.262867192635	.	.	1.666e-05	0	0	0	0	3.043e-05	0	0	1.29e-05	2	154602	rs750335748	4.732e-05	4.788e-05	3.818e-05	5.658e-05	5.767e-05	3.803e-05	3.485e-05	4.621e-05	4.205e-05	2.99e-05	2.238e-05	0	2.525e-05	0	0	5.767e-05	1.66e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.008	0.67890	D	0.897	0.49385	P	0.435	0.45529	B	0.001067	0.40389	N	0.202030	0.70541	0.33464	D	1.175	0.29870	L	-2.67	0.90332	D	-1.82	0.42763	N	0.456	0.49328	0.021	0.82680	D	0.515	0.81826	D	10	0.71605337	0.73353	D	0.262867	0.89577	D	0.378	0.69612	0.799	0.91874	0.783185248428	0.78118	0.7400512194347415	0.73950	0.595573208933	0.54826	0.375516802073	0.21620	T	0.311036	0.68295	T	-0.0495985	0.44509	T	-0.226156	0.52142	T	0.620683372020721	0.37234	D	0.911209	0.68535	D	0.19219568	0.40879	0.12362286	0.29807	0.19219568	0.40879	0.12362286	0.29806	-6.434	0.49775	T	.	.	0.099	0.16713	B	.	.	3.509089	0.49129	22.7	0.99841034773172521	0.92143	0.47475	0.27991	N	AEFGBI	0.214776	0.34021	N	-0.115314444447907	0.36724	2.126718	-0.0998304912323296	0.35399	2.047461	0.999860339608384	0.44398	0.67177	0.52595	0	0.547309	0.14657	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.8	3.02	0.33970	3.561000	0.53515	3.927000	0.40510	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.267:0.0:0.5382:0.1948	3.215	0.06297	83	0.96533	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3005.33	37	chr3	52520095	.	G	A	3005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=875;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.494;SOR=0.983	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	18	0	1	0
chr3	52534625	52534625	T	C	exonic	NT5DC2	.	nonsynonymous SNV	NT5DC2:NM_022908:exon1:c.A29G:p.E10G	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0003	0.00459265	0.0020	0.0006	0	0.0130	0.0057	0.0008	0.0067	0.0015	0.0018628	288	154602	rs145529151	0.0008	0.0008	0.0008	0.0008	0.0111	0.0007	0.0007	0.0102	0.0099	0.0003	2.236e-05	0	0.0111	0.0054	0.0007	0.0001	0.0022	0.0014	0.0013	0.0013	0.0010	0.0015	0.0155	0.0011	0.0011	0.0127	0.0117	0.0005	0	0.0001	0	0.0155	0.0056	0	0.0002	0.0028	0.0023	0.157	0.23997	T	0.331	0.18505	T	0.0	0.02946	B	0.0	0.01387	B	0.031789	0.01742	U	6.254030	1	0.08975	N	0	0.06538	N	1.89	0.23688	T	-0.18	0.09796	N	0.128	0.12198	-1.0450	0.15825	T	0.022	0.09330	T	10	0.0033584535	0.00058	T	.	.	.	0.035	0.08770	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	0.012083	0.10683	T	-0.658909	0.00064	T	-0.708222	0.05388	T	0.00273690444362809	0.00028	T	0.371963	0.08817	T	0.041920383	0.06261	0.02878614	0.01148	0.041920383	0.06261	0.02878614	0.01148	-3.303	0.13776	T	.	.	0.079	0.07365	B	.	.	0.251331	0.06306	2.764	0.7222528915413754	0.09899	0.01871	0.05765	N	AEFDGBHCI	0.049979	0.08690	N	-1.19375471244033	0.05094	0.2314144	-1.22318550392523	0.05539	0.2642004	0.999986664330601	0.51787	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.375	0.06713	1	.	.	3.04	0.601	0.16708	-0.628000	0.05611	-0.696000	0.07817	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2396:0.1361:0.0:0.6243	2.396	0.04122	85	0.96447	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1656.33	33	chr3	52534625	.	T	C	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=759;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.058;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr3	52648391	52648391	C	T	exonic	PBRM1	.	nonsynonymous SNV	PBRM1:NM_001350075:exon8:c.G766A:p.A256T,PBRM1:NM_018313:exon8:c.G766A:p.A256T,PBRM1:NM_001366070:exon9:c.G829A:p.A277T,PBRM1:NM_001366071:exon9:c.G829A:p.A277T,PBRM1:NM_001366072:exon9:c.G829A:p.A277T,PBRM1:NM_001366073:exon9:c.G820A:p.A274T,PBRM1:NM_001366075:exon9:c.G829A:p.A277T,PBRM1:NM_001366076:exon9:c.G820A:p.A274T,PBRM1:NM_181042:exon9:c.G766A:p.A256T,PBRM1:NM_001350074:exon10:c.G829A:p.A277T,PBRM1:NM_001350076:exon10:c.G829A:p.A277T,PBRM1:NM_001350078:exon10:c.G829A:p.A277T,PBRM1:NM_001350079:exon10:c.G829A:p.A277T,PBRM1:NM_001366074:exon10:c.G817A:p.A273T,PBRM1:NM_001350077:exon11:c.G820A:p.A274T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00400252632717	.	.	3.312e-05	0	0	0	0	6.028e-05	0	0	2.59e-05	4	154602	rs776146971	1.098e-05	1.3e-05	9.559e-06	1.241e-05	3.009e-05	6.5e-06	5.26e-06	5.77e-06	4.56e-06	3.009e-05	2.258e-05	0	0	3.75e-05	0	1.082e-05	0	0	2.631e-05	2.628e-05	3.857e-05	1.347e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.467	0.09458	T	0.666	0.07919	T	0.007	0.24602	B	0.003	0.18489	B	0.000022	0.55875	D	0.119017	0.998132	0.44547	D	0.08	0.08321	N	1.52	0.30669	T	0.21	0.07008	N	0.327	0.39356	-1.0632	0.10974	T	0.040	0.17149	T	10	0.1323168	0.25184	T	0.004003	0.09493	T	0.042	0.11227	.	.	0.366092821824	0.36220	0.5409107550760102	0.54016	1.22914692326	0.81295	0.68328666687	0.64741	T	0.053678	0.29509	T	-0.232433	0.16328	T	-0.463993	0.26165	T	0.163220437971818	0.18106	T	0.919208	0.70896	D	0.19662355	0.41497	0.1041738	0.25014	0.21445057	0.43851	0.11876101	0.28666	-2.58	0.06782	T	.	.	0.082	0.22753	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.389136	0.67717	25.1	0.99739162268311488	0.83337	0.91701	0.54080	D	AEFBI	0.220290	0.34506	N	-0.161673535968342	0.34739	1.986596	0.0846308261045587	0.43773	2.672342	0.999994980642627	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	2.431000	0.44433	5.929000	0.51288	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9243:0.0:0.0757	12.719	0.56500	28	0.98252	.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;.;.;.;.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	636.33	36	chr3	52648391	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=704;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.351;SOR=0.949	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr3	52778000	52778000	C	T	exonic	ITIH1	.	stopgain	ITIH1:NM_002215:exon2:c.C121T:p.R41X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs759052053	1.163e-05	1.163e-05	9.529e-06	1.375e-05	6.708e-05	7.08e-06	5.79e-06	2.194e-05	1.43e-05	5.974e-05	6.708e-05	0	0	0	0	5.396e-06	1.656e-05	5.797e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.479638	0.12181	N	0.689972	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.12	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367562	0.87843	D	0.466048	0.93926	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.832989	0.99858	50	0.9951710766455043	0.68979	0.58888	0.30764	D	AEFBCI	0.546775	0.56074	D	0.478542776318965	0.65840	4.873178	0.282902854119632	0.54541	3.618775	0.989218988377739	0.31756	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.88	0.773	0.17660	1.253000	0.32488	2.094000	0.30565	0.599000	0.40250	1.000000	0.71638	0.857000	0.27449	0.997000	0.79791	0.3864:0.4398:0.0:0.1738	4.276	0.10255	32	0.98147	VIT domain|VIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	33	chr3	52778000	.	C	T	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=812;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.848;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	18	0	1	0
chr3	52814021	52814021	C	T	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon21:c.G2587A:p.G863S,ITIH4:NM_002218:exon23:c.G2677A:p.G893S	.	413	1090	18	1	0	20	0.00909091	.	.	.	698242	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0040	0.00539137	0.0061	0.0011	0.0018	0	0.0026	0.0052	0.0023	0.0205	0.005595	865	154602	rs151083454	0.0059	0.0059	0.0055	0.0063	0.0177	0.0058	0.0058	0.0170	0.0167	0.0007	0.0021	0.0016	2.519e-05	0.0023	0.0049	0.0058	0.0054	0.0177	0.0039	0.0039	0.0038	0.0041	0.0153	0.0037	0.0036	0.0125	0.0115	0.0011	0	0.0037	0.0020	0.0002	0.0026	0.0068	0.0055	0.0033	0.0153	1.0	0.04832	T	0.795	0.06128	T	0.0	0.02946	B	0.002	0.06944	B	0.114756	0.02672	N	1.820270	1	0.08975	N	-1.725	0.00339	N	2.89	0.10196	T	1.1	0.01229	N	0.057	0.09631	-0.9695	0.37304	T	0.013	0.05129	T	10	0.0028267205	0.00045	T	.	.	.	0.022	0.04323	.	.	0.323886383625	0.31992	0.16089126465551357	0.16010	0.271104478552	0.29633	0.254898905754	0.04302	T	0.034529	0.23358	T	-0.65851	0.00064	T	-0.7044	0.05588	T	0.000266800669837077	0.00002	T	0.572043	0.20971	T	0.030960612	0.02851	0.041129094	0.04604	0.030960612	0.02851	0.041129094	0.04604	-3.085	0.11644	T	0.04118628777188473	0.00389	0.064	0.01715	B	.;.;.	.;.;.	-0.272951	0.02738	0.364	0.43481433377480122	0.03277	0.00236	0.01316	N	AEFDBI	0.115502	0.22707	N	-1.08195259201831	0.06976	0.3226915	-1.12549250914013	0.07216	0.3501602	0.956762914664364	0.28265	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.25	-0.979	0.09751	-0.239000	0.08983	0.308000	0.17052	-0.130000	0.13190	0.001000	0.13787	0.009000	0.19889	0.005000	0.06747	0.0:0.3751:0.1916:0.4333	5.011	0.13653	56	0.97520	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.002725	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	1553.33	33	chr3	52814021	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=734;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.219;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr3	53233167	53233167	C	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon6:c.G737A:p.R246Q,TKT:NM_001135055:exon6:c.G737A:p.R246Q,TKT:NM_001258028:exon7:c.G761A:p.R254Q	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	431	1065	25	1	0	27	0.0125174	.	.	.	698251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0146851353604	0.0032	0.00179712	0.0030	0.0010	0.0022	0	0.0002	0.0037	0.0022	0.0047	0.003053	472	154602	rs139694567	0.0043	0.0043	0.0043	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0026	0.0046	5.04e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.089	0.32141	T	0.055	0.48080	T	0.842	0.46562	P	0.253	0.39112	B	0.000001	0.62929	D	0.054326	0.999775	0.49394	D	0.76	0.19266	N	1.95	0.22474	T	-1.87	0.43717	N	0.518	0.57263	-1.1292	0.01821	T	0.029	0.12541	T	10	0.020147294	0.00459	T	0.014685	0.34971	T	0.119	0.33137	.	.	0.513674172182	0.51010	0.4065224521706497	0.40568	0.63453964438	0.57307	0.469364464283	0.34593	T	0.404	0.76037	T	-0.450405	0.01123	T	-0.418248	0.31276	T	0.0185645089946174	0.00571	T	0.985701	0.95103	D	0.37940398	0.59274	0.17648907	0.40186	0.5238036	0.68478	0.20858358	0.45165	-8.761	0.66145	D	0.2650634960635672	0.35741	0.090	0.17488	B	.;.;.;.	.;.;.;.	5.277650	0.88614	29.7	0.99869633706115868	0.94726	0.90007	0.50855	D	AEFGBHCI	0.616598	0.60310	D	0.320066418979664	0.57179	3.884338	0.443787975992137	0.64318	4.684352	0.999999999997967	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	4.119000	0.57638	5.894000	0.50799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.8106:0.0:0.1894	7.731	0.27951	476	0.77720	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.020202	0.009511	0.011696	0.000000	0.000000	0.015244	0.011364	0.02632	1410.33	125	chr3	53233167	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1160;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.882;SOR=1.126	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr3	53235012	53235012	G	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon5:c.C600A:p.D200E,TKT:NM_001135055:exon5:c.C600A:p.D200E,TKT:NM_001258028:exon6:c.C624A:p.D208E	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	435	1061	25	1	0	27	0.012564	.	.	.	698252	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0099925915377	0.0032	0.00179712	0.0030	0.0010	0.0021	0	0.0002	0.0037	0.0022	0.0047	0.0030077	465	154602	rs150551962	0.0043	0.0043	0.0042	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0025	0.0046	5.038e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.58	0.06282	T	0.604	0.07842	T	0.0	0.02946	B	0.003	0.08700	B	0.000001	0.84330	N	0.091707	0.699474	0.33406	D	-0.74	0.01752	N	1.0	0.41392	T	-0.11	0.08653	N	0.075	0.22742	-1.0383	0.17832	T	0.022	0.09559	T	10	0.0050515532	0.00109	T	0.009993	0.25990	T	0.121	0.33580	0.591	0.71999	0.188950314367	0.18478	0.2628957130852342	0.26202	0.346780503942	0.36582	0.441164582968	0.30736	T	0.25233	0.62270	T	-0.668634	0.00056	T	-0.731718	0.04250	T	0.000775153748033776	0.00007	T	0.821518	0.48098	T	0.20183973	0.42208	0.04764035	0.06905	0.21242823	0.43594	0.052317426	0.08596	-2.769	0.11000	T	0.08845102626155471	0.05302	0.095	0.24157	B	.;.;.;.	.;.;.;.	-0.594179	0.01588	0.107	0.52132479713537527	0.04690	0.24686	0.22470	N	AEFGBHCI	0.270188	0.38630	N	-1.78220852389748	0.00590	0.02542901	-1.80306897735056	0.00749	0.03340434	0.999999998898184	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.47	-8.32	0.00873	-1.110000	0.03417	-2.744000	0.03406	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5047:0.0729:0.2492:0.1733	3.486	0.07182	479	0.77495	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010595	0.020202	0.009511	0.011696	0.000000	0.000000	0.015337	0.007634	0.02632	1594.33	33	chr3	53235012	.	G	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=778;ExcessHet=0;FS=5.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.177;SOR=0.74	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr3	53292458	53292458	G	T	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C517A:p.P173T,DCP1A:NM_001290204:exon6:c.C880A:p.P294T,DCP1A:NM_001290206:exon6:c.C631A:p.P211T,DCP1A:NM_018403:exon7:c.C994A:p.P332T,DCP1A:NM_001290205:exon8:c.C778A:p.P260T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0505120082266	0.0062	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.005181	801	154602	rs34229192	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0011	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0054	0	0.0080	0.0024	0.0006	.	.	.	0.56	0.18959	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.95	0.52479	M	.	.	.	.	.	.	0.27	0.36464	.	.	.	.	.	.	.	0.0080038905	0.00182	T	0.050512	0.64274	D	.	.	.	.	0.324009150485	0.32011	0.38244878352603096	0.38159	.	.	0.338424742222	0.16202	T	0.01075	0.09672	T	-0.269599	0.11801	T	-0.154064	0.58883	T	.	.	.	0.828817	0.49341	T	0.2888838	0.51888	0.5038363	0.71320	0.2888838	0.51888	0.5038363	0.71320	-3.917	0.22557	T	.	.	0.064	0.04002	B	.;.	.;.	2.125515	0.27058	17.33	0.86176792881069075	0.16363	0.86977	0.46383	D	AEFGBCI	0.222494	0.34698	N	.	.	.	.	.	.	0.974666095230642	0.29562	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	4.86	3.97	0.45241	1.717000	0.37612	4.615000	0.44052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.421	0.60447	446	0.79659	.;.	.	.	.	.	rs34229192	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1866.33	37	chr3	53292458	.	G	T	1866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.182;DP=871;ExcessHet=0;FS=2.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.296;SOR=0.914	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1476	18	0	1	0
chr3	53292562	53292562	G	C	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C413G:p.A138G,DCP1A:NM_001290204:exon6:c.C776G:p.A259G,DCP1A:NM_001290206:exon6:c.C527G:p.A176G,DCP1A:NM_018403:exon7:c.C890G:p.A297G,DCP1A:NM_001290205:exon8:c.C674G:p.A225G	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349665841121	0.0063	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.0051875	802	154602	rs35988197	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0010	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0053	0	0.0079	0.0024	0.0006	.	.	.	0.389	0.21011	T	0.988	0.62325	D	0.76	0.56425	P	.	.	.	.	.	.	.	1.78	0.46185	L	.	.	.	.	.	.	0.395	0.49692	.	.	.	.	.	.	.	0.009402096	0.00212	T	0.034967	0.56032	D	.	.	.	.	0.541875923249	0.53840	0.2256122484868594	0.22476	.	.	0.470529198647	0.34753	T	0.011278	0.10082	T	-0.224975	0.17318	T	-0.0899644	0.64164	T	.	.	.	0.849315	0.53201	T	0.16626175	0.36950	0.48547235	0.70218	0.16626175	0.36949	0.48547235	0.70219	-4.523	0.31188	T	.	.	0.131	0.39064	B	.;.	.;.	3.857926	0.55934	23.7	0.83482152682483601	0.14750	0.95973	0.66961	D	AEFBI	0.498457	0.53255	N	.	.	.	.	.	.	0.9933578246098	0.33183	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	5.31	5.31	0.75063	4.873000	0.62751	9.559000	0.80991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1442:0.8558:0.0	14.743	0.69087	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1489.33	37	chr3	53292562	.	G	C	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.485;DP=851;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.89;SOR=0.715	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1476	18	0	1	0
chr3	53718690	53718695	GGAGAC	-	exonic	CACNA1D	.	nonframeshift deletion	CACNA1D:NM_000720:exon11:c.1487_1492del:p.R498_R499del	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3743727	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369929308	2.852e-06	2.736e-06	2.816e-06	2.889e-06	3.702e-06	6.7e-07	4.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3352.29	38	chr3	53718689	.	TGGAGAC	T	3352.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=868;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.141;SOR=0.866	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1395	18	0	1	0
chr3	54918601	54918601	A	-	exonic	LRTM1	.	frameshift deletion	LRTM1:NM_001304389:exon3:c.668delT:p.V223Gfs*4,LRTM1:NM_020678:exon3:c.896delT:p.V299Gfs*4	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0005	9.615e-05	0.0004	0	0.0002	0.0007	0	0.0008	0.0005239	81	154602	rs750192575	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0012	0.0012	0.0001	0.0003	0.0002	2.519e-05	0.0005	0.0002	0.0011	0.0009	0.0014	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0008	0.0007	0.0003	0	0.0004	0	0	0.0003	0	0.0009	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1764.29	40	chr3	54918600	.	CA	C	1764.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=843;ExcessHet=0;FS=3.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.216;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1198	18	0	1	0
chr3	55950564	55950564	A	C	exonic	ERC2	.	nonsynonymous SNV	ERC2:NM_015576:exon12:c.T2258G:p.L753R	.	434	1082	6	0	0	6	0.00276498	0.0310	0.124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0110	0.00738818	0.0027	0.0313	0.0013	0	0	1.5e-05	0.0022	6.07e-05	0.0025355	392	154602	rs78657377	0.0008	0.0008	0.0010	0.0007	0.0305	0.0008	0.0008	0.0290	0.0284	0.0305	0.0014	0	0	0	0.0016	2.249e-05	0.0015	3.478e-05	0.0083	0.0083	0.0086	0.0080	0.0293	0.0079	0.0078	0.0279	0.0274	0.0293	0	0.0020	0	0	0	0.0034	2.94e-05	0.0057	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1706.33	180	chr3	55950564	.	A	C	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.624;DP=817;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.878;SOR=1.041	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1405	18	0	1	0
chr3	56571213	56571213	G	T	exonic	CCDC66	.	stopgain	CCDC66:NM_001353151:exon6:c.G748T:p.E250X,CCDC66:NM_001012506:exon7:c.G745T:p.E249X,CCDC66:NM_001141947:exon7:c.G847T:p.E283X,CCDC66:NM_001353147:exon7:c.G847T:p.E283X,CCDC66:NM_001353148:exon7:c.G847T:p.E283X,CCDC66:NM_001353149:exon7:c.G826T:p.E276X,CCDC66:NM_001353150:exon7:c.G847T:p.E283X,CCDC66:NM_001353153:exon7:c.G745T:p.E249X,CCDC66:NM_001353154:exon7:c.G847T:p.E283X,CCDC66:NM_001353155:exon7:c.G826T:p.E276X,CCDC66:NM_001353152:exon8:c.G745T:p.E249X	.	538	980	2	0	2	4	0.00101937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0004	0	0	0	0	0	0	0.0026	0.0003169	49	154602	rs556042658	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0005	4.746e-06	0.0002	0.0026	5.918e-05	5.909e-05	2.573e-05	9.415e-05	0.0017	3.079e-05	2.212e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.472e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000416	0.44736	D	0.155094	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28699	0.81906	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.109017	0.98477	39	0.99644713402484164	0.76881	0.95355	0.64397	D	AEFBI	0.072082	0.14372	N	1.04590953694348	0.96992	15.43104	0.901071351247439	0.95620	13.79769	0.985190012484585	0.30843	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	4.409000	0.59524	7.344000	0.58262	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.664	0.88103	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	874.33	33	chr3	56571213	.	G	T	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.513;DP=734;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.925;SOR=0.892	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K,TASOR:NM_001365635:exon18:c.C2923A:p.Q975K	.	431	1038	48	5	0	58	0.027179	.	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.010101	0.017663	0.026316	0.000000	0.008621	0.021341	0.026515	0.02632	883.33	38	chr3	56633868	.	G	T	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.765;DP=769;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.063;SOR=0.499	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	57198277	57198277	G	A	exonic	HESX1	.	nonsynonymous SNV	HESX1:NM_003865:exon4:c.C478T:p.R160C,HESX1:NM_001376059:exon6:c.C478T:p.R160C,HESX1:NM_001376060:exon6:c.C478T:p.R160C,HESX1:NM_001376061:exon6:c.C478T:p.R160C,HESX1:NM_001376058:exon7:c.C478T:p.R160C	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	22730	GROWTH_HORMONE_DEFICIENCY_WITH_PITUITARY_ANOMALIES|Septo-optic_dysplasia_sequence	MedGen:C2750027|Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.912	0.7185837252	.	.	8.292e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs28936702	1.849e-05	1.915e-05	1.635e-05	2.065e-05	3.483e-05	1.266e-05	1.085e-05	1.296e-05	1.107e-05	0	0	3.83e-05	0	0	0	1.98e-05	1.658e-05	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	4.12	0.97420	H	-5.73	0.99303	D	-7.53	0.95131	D	0.807	0.80278	0.895	0.95608	D	0.993	0.99830	D	9	0.990981	0.99615	D	0.718584	0.97721	D	0.912	0.97662	0.975	0.99766	0.996147397946	0.99610	0.9106944834585501	0.91043	0.412041259716	0.41953	0.709908723831	0.68580	T	0.963952	0.99555	D	0.543851	0.95526	D	0.558914	0.95934	D	0.999748647212982	0.98780	D	0.994301	0.98122	D	0.9269811	0.93935	0.8542323	0.91789	0.9364005	0.94882	0.91244334	0.95863	-12.255	0.86071	D	0.9023530054800712	0.95335	0.978	0.91023	P	.;.;.	.;.;.	5.223516	0.87673	29.3	0.99914671999741123	0.98309	0.86840	0.46210	D	AEFBI	0.701049	0.65786	D	1.10222209724316	0.98175	17.60258	0.951438426263697	0.97446	16.14431	0.999999978199531	0.74766	0.608746	0.35421	0	0.633656	0.55848	0	0.731467	0.93227	0	0.444512	0.06955	0	.	.	5.25	5.25	0.73169	5.817000	0.68907	11.803000	0.96709	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.217	0.93770	436	0.80373	Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2169.83	33	chr3	57198277	.	G	A	2169.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.9;DP=758;ExcessHet=0.119;FS=3.392;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.287;SOR=0.74	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1410,0,1330	17	0	2	0
chr3	57384875	57384875	G	A	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon49:c.C7814T:p.A2605V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454946400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.63e-05	2.627e-05	2.57e-05	2.692e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.63628	.	.	.	.	.	.	.	0.794913	0.78982	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590264	0.86716	D	.	.	.	.	.	.	.	.	.	0.935106	0.75644	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.68805	P	.	.	5.036173	0.83793	28.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.003000	0.99689	11.584000	0.93361	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	.	.	.	303	0.87825	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	79	chr3	57384875	.	G	A	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=704;ExcessHet=0;FS=3.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.397;SOR=1.079	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	57630458	57630458	T	G	exonic	DENND6A	.	nonsynonymous SNV	DENND6A:NM_152678:exon18:c.A1583C:p.K528T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00623712404706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.288	0.21144	T	0.991	0.64070	D	0.642	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	.	.	.	-3.86	0.72471	D	0.69	0.69562	-0.7874	0.55880	T	0.227	0.59246	T	9	0.5948583	0.66584	D	0.006237	0.16376	T	0.320	0.64215	0.57	0.69299	0.24933006939	0.24537	0.627926300067591	0.62725	0.834932950729	0.67778	0.833869338036	0.87156	D	0.143205	0.47921	T	0.212163	0.75034	D	0.0669805	0.74708	D	0.987965404987335	0.78366	D	0.953805	0.82399	D	0.60184544	0.72790	0.31509185	0.57497	0.60184544	0.72791	0.31509185	0.57497	-12.471	0.87069	D	.	.	0.734	0.74359	P	.	.	4.778888	0.77442	26.7	0.99822157275806311	0.90502	0.98930	0.88779	D	AEFDGBIJ	0.735728	0.68145	D	0.499857939807725	0.67083	5.03446	0.550086621562705	0.71403	5.649585	0.999999999921513	0.74766	0.75658	0.98901	0	0.708844	0.79440	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.74	5.74	0.90070	5.950000	0.69982	7.934000	0.75174	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.018	0.80260	201	0.92177	Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	512.33	33	chr3	57630458	.	T	G	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.899;DP=649;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.748;SOR=0.268	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	57757682	57757682	C	T	exonic	SLMAP	.	nonsynonymous SNV	SLMAP:NM_001304421:exon1:c.C31T:p.R11C,SLMAP:NM_001304420:exon2:c.C31T:p.R11C,SLMAP:NM_001377538:exon2:c.C31T:p.R11C,SLMAP:NM_001377539:exon2:c.C31T:p.R11C,SLMAP:NM_001377540:exon2:c.C31T:p.R11C,SLMAP:NM_001377541:exon2:c.C31T:p.R11C,SLMAP:NM_001377542:exon2:c.C31T:p.R11C,SLMAP:NM_001377545:exon2:c.C31T:p.R11C,SLMAP:NM_001377549:exon2:c.C31T:p.R11C,SLMAP:NM_001377551:exon2:c.C31T:p.R11C,SLMAP:NM_001377552:exon2:c.C31T:p.R11C,SLMAP:NM_001377555:exon2:c.C31T:p.R11C,SLMAP:NM_001377557:exon2:c.C31T:p.R11C,SLMAP:NM_001377559:exon2:c.C31T:p.R11C,SLMAP:NM_001377562:exon2:c.C31T:p.R11C,SLMAP:NM_001377921:exon2:c.C31T:p.R11C,SLMAP:NM_001377922:exon2:c.C31T:p.R11C,SLMAP:NM_001377923:exon2:c.C31T:p.R11C,SLMAP:NM_001377924:exon2:c.C31T:p.R11C,SLMAP:NM_001377925:exon2:c.C31T:p.R11C,SLMAP:NM_007159:exon2:c.C31T:p.R11C	.	.	.	.	.	.	.	.	.	.	.	1398015	Brugada_syndrome	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.0388756163064	.	.	6.622e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs767298958	4.446e-05	4.583e-05	3.403e-05	5.5e-05	0.0007	3.575e-05	3.257e-05	0.0006	0.0005	0	0	0	0	1.872e-05	0	8.993e-07	4.967e-05	0.0007	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.091	0.32769	T	0.157	0.32461	T	0.614	0.57185	P	0.104	0.50152	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.125	0.08623	N	1.26	0.36330	T	-3.23	0.74193	D	0.788	0.82057	-1.0372	0.18171	T	0.102	0.37768	T	10	0.3568303	0.52413	T	0.038876	0.58482	D	0.359	0.67962	0.427	0.47350	0.408543089712	0.40467	0.8198830767564685	0.81945	2.4135721607	0.97228	0.868498802185	0.92353	D	0.62912	0.88482	D	-0.0496144	0.44507	T	0.0473333	0.73408	D	0.286468460330266	0.24442	T	0.990776	0.97178	D	0.5152423	0.67985	0.4536431	0.68226	0.5152423	0.67986	0.4536431	0.68226	-11.16	0.80528	D	.	.	0.811	0.77793	P	.;.;.;.;.	.;.;.;.;.	6.118468	0.94602	34	0.99456305206275908	0.65530	0.89665	0.50275	D	AEFDGBCI	0.935169	0.92962	D	0.395202105786051	0.61162	4.314	0.52449321865356	0.69644	5.389678	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.61	5.61	0.85347	7.856000	0.85294	6.004000	0.52535	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.627	0.95676	236	0.90801	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2275.33	37	chr3	57757682	.	C	T	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.638;DP=880;ExcessHet=0;FS=3.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.089;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr3	58077281	58077281	C	G	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon2:c.C528G:p.D176E,FLNB:NM_001164318:exon2:c.C528G:p.D176E,FLNB:NM_001164319:exon2:c.C528G:p.D176E,FLNB:NM_001457:exon2:c.C528G:p.D176E	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3845909	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.914	0.511540451279	.	0.000199681	1.653e-05	0	0	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs202241565	1.231e-05	1.231e-05	1.77e-05	6.876e-06	0.0002	7.7e-06	6.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.312e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.087940	0.999979	0.53665	D	2.61	0.76335	M	-3.39	0.94210	D	-3.73	0.70920	D	0.811	0.93018	0.771	0.94058	D	0.859	0.95309	D	10	0.89421344	0.88771	D	0.51154	0.95309	D	0.914	0.97738	0.749	0.87988	0.971991250286	0.97168	0.7481681976522424	0.74762	1.94421044628	0.93273	0.799761652946	0.81926	T	0.865966	0.97064	D	0.396542	0.89713	D	0.439485	0.93307	D	0.96546459197998	0.67276	D	0.984102	0.94582	D	0.8495075	0.87298	0.6975229	0.82186	0.8495075	0.87300	0.6975229	0.82187	-12.073	0.85205	D	0.5859632678869431	0.65275	0.987	0.92685	P	.;.;.;.	.;.;.;.	3.000153	0.40085	21.1	0.99655341565911115	0.77568	0.94396	0.61032	D	AEFDGBI	0.495435	0.53080	N	0.421780746860481	0.62620	4.48106	0.334274130142172	0.57564	3.92271	0.99999574514703	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.04	3.25	0.36363	1.804000	0.38510	-0.221000	0.10763	-0.176000	0.10722	1.000000	0.71638	0.217000	0.23687	0.971000	0.54645	0.0:0.6892:0.0:0.3108	8.136	0.30214	506	0.75555	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr3	58077281	.	C	G	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=767;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.212;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1352	18	0	1	0
chr3	58130751	58130751	C	G	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon25:c.C4233G:p.F1411L,FLNB:NM_001164318:exon25:c.C4233G:p.F1411L,FLNB:NM_001164319:exon25:c.C4233G:p.F1411L,FLNB:NM_001457:exon25:c.C4233G:p.F1411L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	367365	not_provided|FLNB-Related_Spectrum_Disorders|FLNB-related_disorder	MedGen:C3661900|MedGen:CN239400|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.820	0.332673060182	0.0004	0.000199681	0.0007	0	0.0005	0	0	0.0011	0	0.0002	0.000608	94	154602	rs143831841	0.0006	0.0006	0.0005	0.0006	0.0045	0.0005	0.0005	0.0032	0.0027	8.965e-05	0.0004	0.0005	0	0	0.0045	0.0006	0.0009	0.0001	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0004	0.0012	0	0	0.0034	0.0011	0.0028	0.0004	0.003	0.78490	D	0.002	0.79402	D	0.995	0.67487	D	0.982	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	-2.32	0.87830	D	-5.75	0.88224	D	0.868	0.90476	0.935	0.96181	D	0.857	0.95231	D	10	0.6121359	0.67503	D	0.332673	0.91795	D	0.820	0.94238	0.835	0.94294	0.951054475844	0.95053	0.8061838995509899	0.80573	0.975079256264	0.73533	0.809175550938	0.83366	D	0.844054	0.96389	D	0.105612	0.64894	D	0.338395	0.89852	D	0.115772243935204	0.14012	T	0.983368	0.94382	D	0.7385407	0.80209	0.77409256	0.86669	0.83847	0.86501	0.75830936	0.85719	-10.551	0.77139	D	0.7519093213558078	0.83397	0.987	0.93037	P	.;.;.;.;.	.;.;.;.;.	4.243811	0.64366	24.7	0.99904909905401584	0.97576	0.94613	0.61738	D	AEFBCI	0.643741	0.62025	D	0.849379135431809	0.89074	9.824005	0.775540825754157	0.88046	9.437694	0.999999999999914	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	2.747000	0.47151	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.431	0.94764	424	0.81215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005556	0.000000	0.009537	0.000000	0.000000	0.008621	0.012195	0.003817	0.05263	1576.83	34	chr3	58130751	.	C	G	1576.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=737;ExcessHet=0.119;FS=0.706;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.395;SOR=0.811	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1205	17	0	2	0
chr3	58168601	58168601	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon43:c.G7288A:p.V2430I,FLNB:NM_001164318:exon44:c.G7327A:p.V2443I,FLNB:NM_001457:exon44:c.G7360A:p.V2454I,FLNB:NM_001164317:exon45:c.G7453A:p.V2485I	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	500635	not_provided|FLNB-Related_Spectrum_Disorders	MedGen:C3661900|MedGen:CN239400	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.237	0.0429541431207	0.0012	0.000199681	0.0015	0.0003	8.646e-05	0.0002	0.0020	0.0024	0.0022	0.0004	0.0013389	207	154602	rs146499414	0.0010	0.0010	0.0010	0.0010	0.0007	0.0010	0.0010	0.0003	0.0003	8.961e-05	6.708e-05	0.0314	2.519e-05	0.0025	0.0007	0.0003	0.0030	0.0005	0.0013	0.0013	0.0014	0.0012	0.0012	0.0012	0.0011	0.0005	0.0004	9.619e-05	0	0	0.0372	0	0.0020	0	0.0006	0	0.0012	0.784	0.03253	T	1.0	0.03840	T	0.03	0.22733	B	0.044	0.24394	B	0.000144	0.49130	D	0.141760	0.998439	0.81001	D	-0.705	0.01820	N	-2.18	0.86722	D	0.61	0.02480	N	0.126	0.13198	-0.6947	0.60689	T	0.302	0.67344	T	10	0.008996904	0.00203	T	0.042954	0.60734	D	0.237	0.54074	.	.	0.502130797271	0.49849	0.09903369202012345	0.09834	0.222724169244	0.24812	0.420743077993	0.27937	T	0.259295	0.63054	T	-0.31436	0.07369	T	-0.264866	0.48337	T	0.0110279821840682	0.00159	T	0.90421	0.66396	D	0.022251276	0.00876	0.033477206	0.02250	0.022216326	0.00869	0.04445868	0.05763	-1.189	0.01235	T	.	.	0.060	0.02200	B	.;.;.;.;.;.	.;.;.;.;.;.	2.268031	0.28984	17.98	0.8662259260267825	0.16660	0.80082	0.39816	D	AEFBHCI	0.389385	0.46862	N	-0.541880510714172	0.20739	1.095517	-0.336828055912744	0.26919	1.490216	0.999999239949116	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.67	3.79	0.42757	2.712000	0.46854	3.501000	0.38778	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.493000	0.28859	0.1585:0.0:0.8415:0.0	10.396	0.43382	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1497.33	37	chr3	58168601	.	G	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.377;DP=814;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.561;SOR=0.593	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr3	58293715	58293715	G	A	exonic	ABHD6	.	nonsynonymous SNV	ABHD6:NM_020676:exon9:c.G964A:p.D322N,ABHD6:NM_001320126:exon10:c.G964A:p.D322N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0317814510094	0.0002	.	4.949e-05	0	0	0	0	9.007e-05	0	0	5.17e-05	8	154602	rs144907290	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	2.987e-05	0	0	0	0	0	0.0003	0.0005	2.319e-05	8.542e-05	8.537e-05	8.991e-05	8.07e-05	0.0002	4.957e-05	3.962e-05	9.047e-05	7.012e-05	4.826e-05	0	0	0	0	0	0	0.0002	0	0	0.161	0.23631	T	0.075	0.42794	T	0.338	0.33405	B	0.016	0.17743	B	0.000002	0.62929	D	0.136202	0.999999	0.58761	D	1.815	0.47718	L	-1.17	0.78199	T	-1.75	0.41428	N	0.275	0.31140	-0.4149	0.71554	T	0.375	0.73347	T	10	0.3459286	0.51557	T	0.031781	0.53776	D	0.340	0.66202	.	.	0.880541316822	0.87936	0.23042614769109465	0.22957	0.225206234634	0.25062	0.471815437078	0.34930	T	0.163769	0.50895	T	-0.224999	0.17316	T	-0.324303	0.42100	T	0.165951265000428	0.18300	T	0.874113	0.58433	D	0.12732883	0.29799	0.13954523	0.33292	0.12732883	0.29798	0.13954523	0.33291	-4.131	0.25745	T	.	.	0.101	0.18580	B	.;.	.;.	3.885520	0.56503	23.7	0.99787159253464153	0.87308	0.98848	0.87654	D	AEFBI	0.923108	0.89909	D	0.309187408498464	0.56618	3.826905	0.445405998703102	0.64422	4.697063	0.999999992091787	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.601000	0.82027	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:1.0:0.0	18.733	0.91708	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	36	chr3	58293715	.	G	A	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=715;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.248;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1233	18	0	1	0
chr3	58428581	58428581	T	A	exonic	PDHB	.	nonsynonymous SNV	PDHB:NM_001315536:exon8:c.A772T:p.M258L,PDHB:NM_000925:exon9:c.A826T:p.M276L,PDHB:NM_001173468:exon10:c.A772T:p.M258L	Pyruvate dehydrogenase E1-beta deficiency	.	.	.	.	.	.	.	.	.	.	977988	Pyruvate_dehydrogenase_complex_deficiency|Pyruvate_dehydrogenase_E1-beta_deficiency	MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243|MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111,Orphanet:255138,Orphanet:765	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0294086841065	.	0.000399361	0.0003	0	0	0	0	0	0.0011	0.0019	0.0002264	35	154602	rs372743787	0.0001	0.0001	5.855e-05	0.0001	0.0016	8.85e-05	8.335e-05	0.0014	0.0013	0	0	0	0	0	0	6.297e-06	4.969e-05	0.0016	7.876e-05	7.873e-05	2.569e-05	0.0001	0.0025	4.492e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.596	0.05703	T	0.646	0.06859	T	0.0	0.19406	B	0.001	0.23361	B	0.000260	0.46924	D	0.250146	0.897475	0.27766	N	-0.01	0.05129	N	-2.65	0.90210	D	-0.33	0.13805	N	0.261	0.35832	-0.5946	0.65036	T	0.498	0.80985	T	10	0.017248362	0.00367	T	0.029409	0.51922	D	0.197	0.47942	0.395	0.42099	0.942884942728	0.94229	0.4190998959928851	0.41825	0.379131718483	0.39314	0.291305243969	0.09112	T	0.289822	0.66260	T	-0.37044	0.03571	T	-0.312151	0.43427	T	0.0536388591422337	0.06129	T	0.965403	0.87236	D	0.23821974	0.46697	0.15200262	0.35782	0.23821974	0.46697	0.15200262	0.35781	-3.981	0.23518	T	0.11158007631717998	0.09556	0.117	0.31832	B	.;.;.;.	.;.;.;.	2.122756	0.27023	17.32	0.89881318829483869	0.19184	0.86038	0.45246	D	AEFDBCI	0.521339	0.54581	D	-0.235691602127365	0.31677	1.778726	0.0232659446146634	0.40796	2.440579	0.999999388471018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	2.935000	0.48657	0.337000	0.17343	0.663000	0.56723	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.0:0.0:1.0	16.566	0.84437	411	0.82069	Transketolase, C-terminal domain;.;.;Transketolase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1253.33	35	chr3	58428581	.	T	A	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=763;ExcessHet=0;FS=7.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.751;SOR=1.472	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	58508985	58508985	C	G	exonic	ACOX2	.	nonsynonymous SNV	ACOX2:NM_003500:exon14:c.G1891C:p.D631H	Bile acid synthesis defect, congenital, 6, Autosomal recessive	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.176084945929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383456151	4.104e-06	4.104e-06	5.445e-06	2.75e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	2.698e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	D	0.000000	1	0.81001	D	3.745	0.94976	H	-1.92	0.84773	D	-6.53	0.91741	D	0.971	0.98167	0.873	0.95317	D	0.829	0.94260	D	10	0.9927707	0.99812	D	0.176085	0.85196	D	0.869	0.96059	0.964	0.99641	0.971999218585	0.97169	0.8208016460682747	0.82037	0.77212903692	0.64820	0.610770046711	0.54425	T	0.508316	0.82566	D	0.305527	0.83403	D	0.38262	0.91523	D	0.994656324386597	0.86077	D	0.933407	0.75038	D	0.88854957	0.90383	0.80887896	0.88829	0.88854957	0.90384	0.80887896	0.88830	-10.578	0.77294	D	0.7498283870452334	0.83191	0.918	0.84037	P	.;.	.;.	5.036345	0.83793	28.1	0.99546469917897762	0.70836	0.94398	0.61038	D	AEFBI	0.851880	0.76876	D	0.88083942576396	0.90790	10.56703	0.796853253063265	0.89574	10.031	0.999998726744868	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	5.370000	0.65897	7.562000	0.60503	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.289	0.94076	646	0.63441	Acyl-CoA oxidase, C-terminal;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2021.83	37	chr3	58508985	.	C	G	2021.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=794;ExcessHet=0.119;FS=3.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.429;SOR=0.978	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	17	0	2	0
chr3	58869478	58869478	C	T	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon8:c.G700A:p.V234I,CFAP20DC:NM_001351531:exon8:c.G250A:p.V84I,CFAP20DC:NM_198463:exon9:c.G490A:p.V164I	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00863542090811	0.0002	0.000199681	0.0003	9.628e-05	0.0002	0	0	0.0004	0.0044	0.0002	0.0002781	43	154602	rs149329107	0.0003	0.0003	0.0003	0.0003	0.0110	0.0002	0.0002	0.0088	0.0080	0.0001	0.0003	0	0	0	0.0110	0.0002	0.0006	0.0002	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.221e-05	0	0.0003	0.0003	0	0	0.0102	0.0004	0.0014	0.0004	0.672	0.08787	T	0.375	0.19539	T	0.003	0.11197	B	0.001	0.04355	B	0.629657	0.05804	N	1.201380	1	0.08975	N	0.47	0.13106	N	0.76	0.49919	T	-0.13	0.09297	N	0.038	0.04307	-1.0168	0.24755	T	0.069	0.28247	T	10	0.018782318	0.00412	T	0.008635	0.22804	T	0.069	0.20116	.	.	0.0762999501168	0.06990	0.11912289086623194	0.11839	0.0979166354652	0.11043	.	.	.	.	.	.	-0.615112	0.00118	T	-0.789278	0.02184	T	0.00402846669868367	0.00043	T	0.537746	0.24942	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.067	0.03588	B	.;.;.	.;.;.	-2.345278	0.00046	0.001	0.75770501299726511	0.11204	0.00696	0.02965	N	AEFI	0.030913	0.03200	N	-1.73464609999455	0.00726	0.03134585	-1.76801588366996	0.00867	0.03875903	0.0108164564529036	0.12086	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.13	-4.98	0.02794	-3.749000	0.00422	-9.876000	0.00766	-1.950000	0.00484	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.1512:0.0:0.8488	14.665	0.68511	460	0.78750	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.005435	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	1586.33	36	chr3	58869478	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=719;ExcessHet=0;FS=1.835;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.84;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr3	62273767	62273767	A	C	exonic	PTPRG	.	nonsynonymous SNV	PTPRG:NM_001375471:exon22:c.A3301C:p.N1101H,PTPRG:NM_002841:exon23:c.A3388C:p.N1130H	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00512190765296	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0	0.0005	0.0001552	24	154602	rs141205324	0.0001	0.0001	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	8.947e-05	0	0	0	0.0047	8.725e-05	0.0003	0.0005	6.564e-05	6.561e-05	6.423e-05	6.711e-05	0.0004	3.513e-05	2.614e-05	7.304e-05	3.034e-05	0	0	0.0001	0	0	0	0.0068	4.41e-05	0.0005	0.0004	0.04	0.42199	D	0.064	0.44905	T	0.001	0.09854	B	0.009	0.14300	B	0.053615	0.22793	N	0.542921	1	0.08975	N	1.24	0.30952	L	2.75	0.11622	T	-1.33	0.33197	N	0.348	0.39760	-1.0169	0.24722	T	0.025	0.10464	T	10	0.08548468	0.14435	T	0.005122	0.13001	T	0.048	0.13305	.	.	0.388970301349	0.38507	0.273502990090942	0.27263	0.199183699879	0.22318	0.308757036924	0.11719	T	0.240672	0.60904	T	-0.515515	0.00467	T	-0.650318	0.08931	T	0.0499970242381096	0.05499	T	0.637136	0.26451	T	0.18822324	0.40311	0.08977211	0.21013	0.18822324	0.40311	0.08977211	0.21012	-7.404	0.56933	T	.	.	0.067	0.04041	B	.;.	.;.	2.198271	0.28035	17.66	0.99048042539665548	0.51185	0.73815	0.36105	D	AEFBI	0.139940	0.26170	N	-0.100292580412695	0.37380	2.173892	0.108062009420303	0.44959	2.767822	0.924089082630977	0.26767	0.706298	0.61202	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	3.442000	0.52663	4.591000	0.43958	0.756000	0.94297	0.990000	0.36992	0.169000	0.23327	0.997000	0.79791	1.0:0.0:0.0:0.0	16.613	0.84745	585	0.69300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	1225.33	33	chr3	62273767	.	A	C	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.044;DP=733;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.131;SOR=1.17	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1457	18	0	1	0
chr3	63912696	63912696	A	C	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.A98C:p.Q33P,ATXN7:NM_001377406:exon2:c.A98C:p.Q33P,ATXN7:NM_000333:exon3:c.A98C:p.Q33P,ATXN7:NM_001377405:exon3:c.A98C:p.Q33P	Spinocerebellar ataxia 7, Autosomal dominant	41	1480	1	0	0	1	0.000337724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0297112532598	.	0.000998403	0.0012	0	0	0	0	0.0086	0	0	7.76e-05	12	154602	rs538503525	0.0004	0.0004	0.0004	0.0004	0.0156	0.0003	0.0003	0.0139	0.0133	0.0015	0.0011	0	0.0156	0	0	0.0001	0.0003	8.516e-05	0.0010	0.0010	0.0009	0.0011	0.0054	0.0009	0.0008	0.0038	0.0033	0.0024	0	0.0009	0	0.0054	0.0001	0	0.0002	0.0005	0.0002	0.033	0.49613	D	0.11	0.37310	T	0.824	0.60733	P	0.507	0.64171	P	.	.	.	.	0.803679	0.29084	N	0	0.06538	N	2.39	0.15724	T	-0.67	0.19297	N	0.392	0.43417	-1.0833	0.06720	T	0.067	0.27674	T	9	0.0067643225	0.00154	T	0.029711	0.52165	D	0.077	0.22490	.	.	0.411923116668	0.40804	0.3081436967785667	0.35754	.	.	0.818183541298	0.84750	D	0.138915	0.47266	T	-0.133524	0.30926	T	-0.429574	0.29983	T	0.068770388505558	0.08478	T	0.339666	0.09873	T	0.19486837	0.41253	0.35773236	0.61262	0.19486837	0.41253	0.35773236	0.61262	-7.617	0.58430	D	.	.	0.070	0.06114	B	.;.;.;.;.	.;.;.;.;.	2.167728	0.27620	17.52	0.93122763975924649	0.22759	0.80307	0.39979	D	ALL	0.202555	0.32914	N	0.054495465977598	0.44350	2.710642	-0.0230354325133135	0.38675	2.28209	0.999999999999999	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	2.86	2.86	0.32427	0.401000	0.20673	0.571000	0.19607	0.539000	0.25131	1.000000	0.71638	0.953000	0.29079	0.759000	0.36109	1.0:0.0:0.0:0.0	7.552	0.26972	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001548	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	73.4	20	chr3	63912696	.	A	C	73.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=0.389;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:45:.:.:0,45,675:.	18	0	1	0
chr3	64533267	64533267	G	T	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon37:c.C5533A:p.R1845S,ADAMTS9:NM_182920:exon38:c.C5617A:p.R1873S	.	434	1084	4	0	0	4	0.00184162	.	.	.	2219399	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0509867807435	7.7e-05	.	0.0001	0	8.654e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs372271088	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.77e-05	0.0007	0.0005	0	8.946e-05	0	0	0	0.0014	0.0001	0.0001	1.16e-05	5.258e-05	5.254e-05	5.139e-05	5.383e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.025	0.52492	D	0.013	0.63109	D	0.981	0.59675	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-3.03	0.62747	D	0.784	0.80572	-1.0802	0.07310	T	0.095	0.35950	T	10	0.83027136	0.82192	D	0.050987	0.64471	D	0.404	0.71714	.	.	0.645464088254	0.64252	0.7166796118980967	0.71610	0.787745447411	0.65616	0.732623100281	0.71889	T	0.147943	0.48627	T	-0.0661436	0.41942	T	-0.0426441	0.67523	D	0.476626098155975	0.31773	T	0.927507	0.73308	D	0.6493464	0.75328	0.46051538	0.68666	0.6493464	0.75330	0.46051538	0.68667	-9.345	0.69889	D	.	.	0.291	0.65314	B	.;.	.;.	5.549114	0.92035	32	0.99826779131858168	0.90939	0.94528	0.61457	D	AEFBCI	0.907423	0.86143	D	0.727166853124651	0.81413	7.516374	0.73275711695203	0.84865	8.412788	0.999999999346754	0.74766	0.562547	0.31514	0	0.547309	0.14657	0	0.61531	0.40942	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	8.735000	0.91247	11.496000	0.92946	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.722	0.91661	773	0.48803	Peptidase M12B, GON-ADAMTSs|Peptidase M12B, GON-ADAMTSs;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	794.33	35	chr3	64533267	.	G	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=725;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=1.08;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1405	18	0	1	0
chr3	64681245	64681245	G	C	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon3:c.C635G:p.P212R,ADAMTS9:NM_182920:exon3:c.C635G:p.P212R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.038063216427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.36310	T	0.676	0.59732	T	0.004	0.12183	B	0.004	0.10090	B	0.033985	0.24827	N	0.433418	0.999946	0.19238	N	2.005	0.54552	M	0.35	0.60973	T	-1.78	0.58896	N	0.196	0.27673	-0.9886	0.32953	T	0.143	0.46550	T	10	0.13376144	0.25459	T	0.038063	0.57999	D	0.082	0.23913	0.255	0.19533	0.58162856405	0.57834	0.18335679320861054	0.18254	0.204652363038	0.22886	0.28236156702	0.07824	T	0.080972	0.36489	T	-0.107605	0.35163	T	-0.392344	0.34276	T	0.424677073955536	0.29863	T	0.589041	0.21605	T	0.09520225	0.22400	0.11417621	0.27559	0.09520225	0.22400	0.11417621	0.27558	-4.372	0.29571	T	.	.	0.072	0.13268	B	.;.;.	.;.;.	1.138282	0.15254	11.71	0.77921101293641715	0.12079	0.78931	0.39021	D	AEFDBCI	0.278986	0.39314	N	-0.525696648276789	0.21251	1.126458	-0.485947465339317	0.22539	1.224759	0.99855605070234	0.37186	0.562547	0.31514	0	0.573888	0.26702	0	0.616487	0.41570	0	0.635551	0.53088	0	.	.	5.92	3.12	0.34986	2.964000	0.48885	2.844000	0.35098	0.672000	0.70159	0.996000	0.39380	0.994000	0.32194	0.417000	0.27162	0.1989:0.0:0.8011:0.0	10.876	0.46120	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1701.33	34	chr3	64681245	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.574;DP=739;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.61;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr3	64686893	64686893	G	A	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon2:c.C191T:p.P64L,ADAMTS9:NM_182920:exon2:c.C191T:p.P64L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.244955641045	7.7e-05	.	8.239e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs372962935	2.052e-06	2.052e-06	1.361e-06	2.75e-06	5.974e-05	5.5e-07	1.5e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	0	1.159e-05	3.286e-05	3.283e-05	1.285e-05	5.38e-05	9.649e-05	1.261e-05	7.98e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.018	0.65728	D	0.912	0.50421	P	0.929	0.66367	D	0.000064	0.52346	D	0.077012	1	0.81001	D	2.47	0.71715	M	0.35	0.60973	T	-5.51	0.89833	D	0.386	0.53181	-0.1104	0.79858	T	0.402	0.75281	T	10	0.5721989	0.65381	D	0.244956	0.88865	D	0.419	0.72855	.	.	0.830279919501	0.82867	0.7992612556104227	0.79879	0.494804857025	0.48035	0.49212411046	0.37734	T	0.329264	0.69958	T	-0.0452333	0.45167	T	-0.121223	0.61702	T	0.990538001060486	0.80756	D	0.917608	0.70392	D	0.7359055	0.80059	0.8414702	0.90935	0.7359055	0.80060	0.8414702	0.90936	-2.867	0.09746	T	.	.	0.195	0.54448	B	.;.;.	.;.;.	4.637162	0.73792	26.0	0.99871780261267817	0.94902	0.93133	0.57412	D	ALL	0.908050	0.86285	D	0.660907573302638	0.77075	6.605661	0.609197921467456	0.75609	6.340537	0.999999999994086	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	5.02	4.13	0.47661	6.788000	0.74893	8.570000	0.77602	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8575:0.1425	15.138	0.72261	911	0.21964	Peptidase M12B, propeptide;.;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1563.33	41	chr3	64686893	.	G	A	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.011;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.63;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	18	0	1	0
chr3	66263371	66263371	T	G	exonic	SLC25A26	.	nonsynonymous SNV	SLC25A26:NM_001164796:exon4:c.T181G:p.L61V,SLC25A26:NM_001350992:exon4:c.T181G:p.L61V,SLC25A26:NM_001350991:exon5:c.T445G:p.L149V,SLC25A26:NM_001379210:exon5:c.T445G:p.L149V,SLC25A26:NM_001350993:exon6:c.T181G:p.L61V,SLC25A26:NM_173471:exon6:c.T445G:p.L149V	Combined oxidative phosphorylation deficiency 28, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	YES	734275	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	.	0.00359425	0.0016	0	0	0.0210	0	0	0	0.0005	0.001216	188	154602	rs141974918	0.0006	0.0006	0.0006	0.0006	0.0191	0.0005	0.0005	0.0180	0.0175	2.993e-05	2.244e-05	7.674e-05	0.0191	0	0	9.021e-06	0.0004	0.0004	0.0008	0.0008	0.0007	0.0010	0.0230	0.0007	0.0007	0.0197	0.0184	0	0	6.533e-05	0	0.0230	0	0	0	0.0009	0.0010	0.052	0.39097	T	0.227	0.39040	T	0.096	0.25489	B	0.241	0.38645	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.62	0.41497	L	-1.31	0.79666	T	-1.12	0.32185	N	0.738	0.74644	-0.4948	0.68836	T	0.270	0.64130	T	10	0.016282588	0.00343	T	.	.	.	0.495	0.78036	.	.	0.216624796971	0.21254	0.6720802852410893	0.67146	0.0399935858434	0.04279	0.750469923019	0.74516	T	0.204935	0.56385	T	-0.0936835	0.37468	T	0.108249	0.77456	D	0.0653749577919013	0.07986	T	.	.	.	0.18659294	0.40075	0.25934756	0.51681	0.25839332	0.48888	0.27548352	0.53485	-8.137	0.62000	D	.	.	0.136	0.37312	B	.;.;.	.;.;.	2.744923	0.35961	20.1	0.99304798748580225	0.58759	0.94335	0.60838	D	AEFBI	0.609562	0.59872	D	-0.0423241294099502	0.39945	2.364018	0.0803800624155984	0.43562	2.655462	0.25686601784904	0.18745	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.54	4.39	0.52211	2.781000	0.47437	2.824000	0.34981	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1483:0.0:0.8517	8.525	0.32462	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2040.33	35	chr3	66263371	.	T	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.047;DP=802;ExcessHet=0;FS=1.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.168;SOR=0.554	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr3	66380318	66380318	G	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon12:c.C2225T:p.T742I,LRIG1:NM_001377348:exon12:c.C2198T:p.T733I,LRIG1:NM_001377349:exon12:c.C1943T:p.T648I,LRIG1:NM_001377344:exon18:c.C3152T:p.T1051I,LRIG1:NM_001377345:exon19:c.C2447T:p.T816I,LRIG1:NM_001377346:exon19:c.C2447T:p.T816I,LRIG1:NM_015541:exon19:c.C3227T:p.T1076I	.	.	.	.	.	.	.	.	.	.	.	2782156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0215809198752	7.7e-05	.	1.648e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs376409463	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.619e-05	0	4.637e-05	3.942e-05	3.94e-05	3.853e-05	4.034e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.02	0.53172	D	0.076	0.42614	T	0.261	0.39628	B	0.094	0.39460	B	0.052489	0.22889	N	0.354667	1	0.19363	N	1.95	0.52479	M	-0.08	0.63911	T	-1.24	0.31375	N	0.156	0.21056	-0.9595	0.39274	T	0.141	0.46128	T	10	0.081471354	0.13341	T	0.021581	0.44367	T	0.075	0.21907	.	.	0.326275561783	0.32232	0.19018966377551141	0.18936	0.129818777364	0.14634	0.306691706181	0.11407	T	0.122658	0.44648	T	-0.169091	0.25373	T	-0.38381	0.35275	T	0.0842351689934731	0.10519	T	.	.	.	0.03220721	0.03201	0.03628925	0.03045	0.03220721	0.03201	0.03628925	0.03044	-4.765	0.34180	T	.	.	0.217	0.54804	B	.;.	.;.	1.647456	0.21022	15.02	0.99022407626294506	0.50613	0.13342	0.17802	N	AEFBCI	0.059440	0.11227	N	-0.61739520200142	0.18421	0.9562696	-0.712039299021946	0.16662	0.8824356	0.987328285300392	0.31238	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	0.053	0.13618	0.243000	0.17880	2.073000	0.30453	0.676000	0.76740	0.008000	0.17931	0.946000	0.28899	0.077000	0.17074	0.0818:0.2777:0.4132:0.2272	3.887	0.08608	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	35	chr3	66380318	.	G	A	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.072;DP=775;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.155;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr3	66383098	66383098	G	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon8:c.C1373T:p.T458M,LRIG1:NM_001377348:exon8:c.C1346T:p.T449M,LRIG1:NM_001377349:exon8:c.C1091T:p.T364M,LRIG1:NM_001377344:exon14:c.C2300T:p.T767M,LRIG1:NM_001377345:exon15:c.C1595T:p.T532M,LRIG1:NM_001377346:exon15:c.C1595T:p.T532M,LRIG1:NM_015541:exon15:c.C2375T:p.T792M	.	434	1087	1	0	0	1	0.00045977	.	.	.	2395016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.041822158842	.	0.000399361	9.891e-05	0	8.642e-05	0	0	8.998e-05	0	0.0003	9.7e-05	15	154602	rs202007714	0.0001	0.0001	8.848e-05	0.0001	0.0019	9.091e-05	8.598e-05	0.0011	0.0008	0.0002	0	0	0.0001	1.872e-05	0.0019	7.104e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.709e-05	9.535e-05	6.941e-05	0.0002	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.055	0.39334	T	0.0	0.92824	D	0.517	0.57185	P	0.136	0.54270	B	0.000000	0.84330	D	0.049363	0.999988	0.81001	D	2.8	0.81625	M	-0.32	0.69413	T	-4.99	0.83027	D	0.666	0.71498	-0.2276	0.76950	T	0.377	0.73468	T	10	0.33841413	0.50946	T	0.041822	0.60137	D	0.455	0.75415	.	.	0.512013392622	0.50841	0.45738412920777743	0.45656	0.133136074667	0.14996	0.535939097404	0.43872	T	0.392377	0.75206	T	-0.00885143	0.50426	T	0.0600276	0.74246	D	0.429542064666748	0.30043	T	.	.	.	0.37753168	0.59137	0.30251586	0.56283	0.37753168	0.59137	0.30251586	0.56282	-5.203	0.44224	T	.	.	0.161	0.44643	B	.;.	.;.	3.543155	0.49775	22.8	0.99867200004572965	0.94547	0.95845	0.66400	D	AEFDGBHCI	0.895289	0.83514	D	0.393818302857874	0.61088	4.305173	0.404868599595514	0.61868	4.393026	0.999999999999797	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	5.01	0.66477	8.039000	0.89191	8.449000	0.77214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.1447:0.8552:0.0	16.501	0.84101	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2451.33	35	chr3	66383098	.	G	A	2451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=814;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.094;SOR=0.62	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1369	18	0	1	0
chr3	69009776	69009776	G	C	exonic	EOGT	.	nonsynonymous SNV	EOGT:NM_001278689:exon4:c.C71G:p.P24R,EOGT:NM_173654:exon4:c.C71G:p.P24R	Adams-Oliver syndrome 4, Autosomal recessive	432	1068	21	1	0	23	0.0106531	.	.	.	709030	Adams-Oliver_syndrome_4|not_provided	MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0005	0.00459265	0.0033	0.0002	0.0005	0.0001	0	0.0007	0.0033	0.0209	0.0028978	448	154602	rs140016031	0.0016	0.0016	0.0010	0.0022	0.0203	0.0016	0.0015	0.0195	0.0192	5.974e-05	0.0005	0.0081	0	0	0.0036	0.0002	0.0025	0.0203	0.0011	0.0011	0.0008	0.0014	0.0223	0.0009	0.0009	0.0188	0.0176	2.409e-05	0	0.0004	0.0072	0	0	0	0.0003	0.0009	0.0223	0.109	0.29288	T	0.231	0.43721	T	0.09	0.25173	B	0.047	0.24832	B	0.166091	0.17514	N	0.576273	1	0.19599	N	1.59	0.40313	L	.	.	.	-0.01	0.15782	N	0.165	0.17966	-1.0243	0.22311	T	0.067	0.27674	T	9	0.0032445192	0.00055	T	.	.	.	0.032	0.07718	.	.	0.112648838833	0.10856	0.4196951627285961	0.41885	0.20632500761	0.23060	0.255860716105	0.04410	T	0.011635	0.21883	T	-0.475384	0.00788	T	-0.438713	0.28954	T	0.0180658668688304	0.00529	T	0.513449	0.16474	T	0.023744848	0.01140	0.041926388	0.04877	0.015647365	0.00150	0.037156157	0.03309	-3.107	0.11551	T	.	.	0.068	0.04723	B	.;.;.;.;.;.	.;.;.;.;.;.	0.959404	0.13359	9.863	0.86468746231025351	0.16556	0.34701	0.25129	N	ALL	0.287777	0.39984	N	-0.761114436584886	0.14333	0.7131189	-0.772692625488729	0.15166	0.7962486	0.999999999379872	0.74766	0.714207	0.82060	0	0.546412	0.12157	0	0.648423	0.49468	0	0.616919	0.45865	0	.	.	5.01	1.83	0.24279	2.483000	0.44891	1.590000	0.27524	0.618000	0.50648	0.078000	0.22289	0.007000	0.19602	0.002000	0.04165	0.1478:0.0:0.7212:0.131	8.794	0.34027	604	0.67577	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	784.33	33	chr3	69009776	.	G	C	784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.451;DP=697;ExcessHet=0;FS=2.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.957;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	18	0	1	0
chr3	70972152	70972152	T	C	exonic	FOXP1	.	nonsynonymous SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R	Mental retardation with language impairment and with or without autistic features, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	363694	FOXP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0018	0	0.0167	0.0354	0	0.0015	0.0152	0.0003	0.0008215	127	154602	rs76145927	0.0023	0.0022	0.0024	0.0023	0.0561	0.0023	0.0022	0.0540	0.0532	0.0004	0.0098	0.0017	0.0561	0.0120	0.0009	0.0002	0.0033	0.0004	0.0035	0.0035	0.0027	0.0043	0.0398	0.0032	0.0032	0.0354	0.0336	0.0006	0	0.0056	0.0009	0.0398	0.0162	0	0.0005	0.0033	0.0004	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.009577841	0.00216	T	.	.	.	.	.	.	.	0.805881646239	0.80406	0.9195165937247104	0.91927	.	.	.	.	.	.	.	.	0.110814	0.65437	D	0.448089	0.93529	D	.	.	.	0.964304	0.86758	D	.	.	.	.	.	.	.	.	-9.855	0.73039	D	.	.	0.999	0.98631	P	.;.	.;.	2.099985	0.26722	17.22	0.96490831351314887	0.30005	0.98453	0.82934	D	AEFBI	0.876408	0.80040	D	.	.	.	.	.	.	0.999999999998693	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.756000	0.84058	3.551000	0.39048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.576	0.84532	665	0.61472	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	354.33	33	chr3	70972152	.	T	C	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.982;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=0.96;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	18	0	1	0
chr3	72848308	72848308	A	C	exonic	SHQ1	.	nonsynonymous SNV	SHQ1:NM_018130:exon1:c.T33G:p.D11E	.	427	1091	4	0	0	4	0.00182983	.	.	.	720631	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.00466636702786	0.0020	0.00139776	0.0014	0.0002	0.0004	0.0001	0	0.0023	0	0.0007	0.0013907	215	154602	rs146220182	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0024	0.0024	0.0002	0.0011	0.0060	2.519e-05	0.0001	0.0026	0.0025	0.0022	0.0008	0.0014	0.0014	0.0014	0.0013	0.0026	0.0012	0.0012	0.0019	0.0017	0.0004	0.0110	0.0026	0.0046	0	0.0002	0.0068	0.0018	0.0024	0.0002	0.088	0.32296	T	0.015	0.61642	D	0.006	0.13644	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.999717	0.48481	D	2.13	0.59329	M	1.56	0.29602	T	-2.77	0.58733	D	0.281	0.31814	-1.0740	0.08556	T	0.057	0.23904	T	10	0.007459402	0.00169	T	0.004666	0.11566	T	0.243	0.54921	0.572	0.69564	0.165133752707	0.16062	0.5913796959812789	0.59067	0.0591815698512	0.06573	0.524812698364	0.42305	T	0.112693	0.42916	T	-0.437827	0.01332	T	-0.407542	0.32509	T	0.0137107989545512	0.00256	T	0.731927	0.34732	T	0.5738682	0.71272	0.18034878	0.40828	0.5738682	0.71274	0.18034878	0.40828	-5.515	0.42008	T	.	.	0.225	0.45629	B	.	.	1.489845	0.19165	14.12	0.95518578919279018	0.27134	0.38610	0.26027	N	ALL	0.130360	0.24889	N	-0.786829083007534	0.13652	0.674118	-0.780277192897034	0.14978	0.7854812	0.999999999968203	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.81	0.994	0.18950	0.316000	0.19217	1.649000	0.27835	-0.784000	0.03305	0.730000	0.28923	0.931000	0.28545	0.178000	0.21234	0.4583:0.1543:0.3874:0.0	4.779	0.12566	772	0.48957	CS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1608.33	35	chr3	72848308	.	A	C	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.225;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	18	0	1	0
chr3	72888319	72888319	G	A	exonic	GXYLT2	.	nonsynonymous SNV	GXYLT2:NM_001080393:exon1:c.G86A:p.R29H	.	1008	510	3	1	0	5	0.00487805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0146721442035	.	.	0	.	.	.	.	.	.	.	0.0005379	14	26028	rs745383897	0.0009	0.0007	0.0009	0.0009	0.0060	0.0008	0.0008	0.0033	0.0025	0.0002	0.0017	0.0013	0	0	0.0060	0.0009	0.0011	0.0022	0.0010	0.0010	0.0009	0.0010	0.0018	0.0008	0.0008	0.0012	0.0011	0.0001	0.0198	0.0018	0.0006	0.0002	0.0005	0.0069	0.0011	0.0015	0.0017	0.26	0.16574	T	0.156	0.31833	T	0.131	0.27154	B	0.006	0.12133	B	0.000612	0.00648	U	408.164000	1	0.08975	N	0.695	0.17993	N	.	.	.	0.01	0.06868	N	0.113	0.10056	-1.0597	0.11830	T	0.051	0.21844	T	9	0.0050777197	0.00110	T	0.014672	0.34938	T	0.035	0.08770	.	.	0.119812018005	0.11559	0.3581853087134045	0.35732	0.189873462192	0.21310	0.828981459141	0.86406	D	2.81E-4	0.00069	T	-0.509578	0.00505	T	-0.550301	0.17298	T	0.696078777313232	0.40532	D	0.432057	0.11757	T	0.05838303	0.11738	0.06624707	0.13544	0.05838303	0.11737	0.06624707	0.13544	-5.827	0.44809	T	.	.	0.208	0.43503	B	.	.	1.830320	0.23256	15.95	0.99623093251909145	0.75533	0.07148	0.13173	N	ALL	0.036513	0.04877	N	-0.817076492993374	0.12874	0.6304017	-0.780354524399652	0.14977	0.7853767	0.99999999807978	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	2.04	1.07	0.19399	2.196000	0.42320	4.075000	0.41695	0.297000	0.18867	0.088000	0.22533	0.998000	0.33993	0.007000	0.07825	0.1984:0.0:0.8016:0.0	5.023	0.13710	849	0.35778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	118.04	1	chr3	72888319	.	G	A	118.04	.	AC=2;AF=0.063;AN=32;DP=63;ExcessHet=0;FS=0;InbreedingCoeff=0.3375;MLEAC=2;MLEAF=0.063;MQ=60;QD=23.61;SOR=1.022	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,243	15	1	0	3
chr3	72997044	72997044	G	A	exonic	PPP4R2	.	nonsynonymous SNV	PPP4R2:NM_001318025:exon1:c.G7A:p.V3I,PPP4R2:NM_001318028:exon1:c.G7A:p.V3I,PPP4R2:NM_174907:exon1:c.G7A:p.V3I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0656075599681	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs750748054	1.832e-05	4.104e-05	1.094e-05	2.599e-05	0.0002	1.22e-05	1.019e-05	8.979e-05	6.8e-05	0	0	0	0	0	0.0002	1.104e-05	1.981e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.09486	T	1.0	0.12072	T	0.023	0.18885	B	0.008	0.13708	B	0.000185	0.48115	D	0.140163	0.749135	0.81001	D	-0.02	0.05091	N	1.09	0.39223	T	0.11	0.05706	N	0.067	0.13198	-1.0316	0.19937	T	0.037	0.15856	T	10	0.04302609	0.03109	T	0.065608	0.69631	D	0.091	0.26358	.	.	0.043077524339	0.03247	0.046988064066047205	0.04641	0.0585039543478	0.06489	0.817917883396	0.84709	D	0.001473	0.04972	T	-0.259537	0.12954	T	-0.610584	0.11938	T	0.135706610287442	0.15899	T	0.729627	0.36245	T	0.07834853	0.17837	0.09365129	0.22132	0.07834853	0.17837	0.09365129	0.22131	-4.172	0.26345	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	2.342149	0.30018	18.31	0.99422280839998278	0.63838	0.27606	0.23325	N	AEFBHCIJ	0.067251	0.13211	N	-0.592999114230102	0.19155	1.000381	-0.375698785633939	0.25724	1.416388	0.999999994035941	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.0	2.8	0.31881	1.051000	0.30027	4.938000	0.46187	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1631:0.0:0.8369:0.0	9.275	0.36853	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	312.33	35	chr3	72997044	.	G	A	312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.108;DP=617;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-1.106;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	18	0	1	0
chr3	73062632	73062632	G	A	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00190026104022	.	.	1.657e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs756862575	1.368e-05	1.368e-05	1.77e-05	9.627e-06	1.709e-05	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.157	0.23997	T	0.038	0.51421	D	0.026	0.19406	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.24	0.31375	N	0.15	0.15328	-1.0454	0.15709	T	0.055	0.23072	T	7	0.075226426	0.11600	T	0.002	0.03351	T	0.024	0.04979	0.491	0.57732	0.0762999501168	0.06990	0.05327138773165531	0.05269	0.0141959289867	0.01355	0.39793369174	0.24781	T	0.002937	0.02330	T	-0.227161	0.17025	T	-0.548592	0.17461	T	0.0653155485113318	0.07977	T	0.442956	0.12306	T	0.04260299	0.06490	0.09110867	0.21402	0.04260299	0.06490	0.09110867	0.21401	-4.113	0.25481	T	.	.	0.151	0.33458	B	.	.	0.742911	0.11122	7.768	0.77041000023911199	0.11712	0.00964	0.03693	N	AEFBI	0.032255	0.03607	N	-1.33525438101969	0.03280	0.1462604	-1.43932839122989	0.02868	0.1327347	0.780095436815839	0.23826	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	0.468	-0.935	0.09893	0.365000	0.20076	-0.519000	0.08701	-0.377000	0.05411	0.266000	0.25007	0.000000	0.08366	0.006000	0.07323	.	.	.	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3362.33	150	chr3	73062632	.	G	A	3362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=2451;ExcessHet=0;FS=3.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.032;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	73065058	73065058	C	G	exonic	PPP4R2	.	nonsynonymous SNV	PPP4R2:NM_001318025:exon7:c.C674G:p.S225C,PPP4R2:NM_001318027:exon7:c.C332G:p.S111C,PPP4R2:NM_001318026:exon8:c.C731G:p.S244C,PPP4R2:NM_174907:exon8:c.C845G:p.S282C	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0088	0.00279553	0.0057	0.0013	0.0038	0	0.0048	0.0087	0.0055	0.0010	0.0062224	962	154602	rs34742137	0.0095	0.0095	0.0098	0.0092	0.0114	0.0094	0.0093	0.0112	0.0111	0.0018	0.0050	0.0050	0	0.0043	0.0061	0.0114	0.0084	0.0010	0.0065	0.0065	0.0071	0.0059	0.0105	0.0062	0.0061	0.0099	0.0096	0.0020	0	0.0063	0.0046	0	0.0050	0.0034	0.0105	0.0123	0.0006	0.011	0.55530	D	0.023	0.57104	D	0.953	0.54283	P	0.41	0.44785	B	0.663385	0.10407	N	0.868319	0.97674	0.39303	D	2.24	0.63355	M	1.33	0.35031	T	-2.31	0.51319	N	0.366	0.40765	-0.9858	0.33639	T	0.124	0.42736	T	10	0.0063696206	0.00144	T	.	.	.	0.116	0.32463	.	.	0.220282294035	0.21616	0.12454862336063753	0.12380	0.15539898781	0.17539	0.314911603928	0.12649	T	0.035405	0.23707	T	-0.480222	0.00737	T	-0.450258	0.27668	T	0.0263717637470888	0.01456	T	0.871513	0.57764	D	0.118089296	0.27830	0.10126789	0.24239	0.118089296	0.27830	0.10126789	0.24238	-5.647	0.43219	T	.	.	0.078	0.06990	B	.	.	3.696601	0.52696	23.3	0.98977046283346182	0.49660	0.98221	0.80666	D	AEFBI	0.546245	0.56042	D	0.441738497107681	0.63737	4.613136	0.437927567504437	0.63944	4.638804	0.999971094996064	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.599000	0.53795	4.910000	0.45943	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.789000	0.37270	0.0:0.8489:0.1511:0.0	14.043	0.64211	842	0.36989	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.005051	0.004087	0.005848	0.000000	0.000000	0.012346	0.003788	0.02632	1224.33	33	chr3	73065058	.	C	G	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=740;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.463;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	18	0	1	0
chr3	73383966	73383966	G	A	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_001303139:exon8:c.C1694T:p.P565L,PDZRN3:NM_001303140:exon8:c.C1571T:p.P524L,PDZRN3:NM_001303141:exon8:c.C1766T:p.P589L,PDZRN3:NM_001303142:exon8:c.C1751T:p.P584L,PDZRN3:NM_015009:exon10:c.C2600T:p.P867L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.146180323085	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001617	25	154602	rs570021330	9.618e-05	9.85e-05	4.947e-05	0.0001	0.0014	8.296e-05	7.806e-05	0.0012	0.0011	0	4.569e-05	0	0	0	0.0007	9.051e-06	8.381e-05	0.0014	4.597e-05	4.594e-05	3.854e-05	5.374e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.022	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.183806	0.17031	N	0.633028	1	0.81001	D	2.84	0.82582	M	-1.56	0.81815	D	-3.54	0.74348	D	0.642	0.67564	0.504	0.90601	D	0.733	0.90862	D	10	0.06531763	0.08793	T	0.14618	0.82832	D	0.490	0.77720	0.21	0.12781	0.819461315173	0.81775	0.38738101722940943	0.38653	0.526887597323	0.50308	0.738758385181	0.72790	T	0.236913	0.60448	T	-0.0373527	0.46340	T	0.14349	0.79770	D	0.222085810509812	0.21567	T	0.894311	0.63503	D	0.17058924	0.37642	0.2173348	0.46395	0.17058924	0.37642	0.2173348	0.46394	-4.861	0.35294	T	0.6523394318825	0.72467	0.172	0.48593	B	.;.;.;.	.;.;.;.	2.969450	0.39573	21.0	0.99848054244582563	0.92750	0.95887	0.66581	D	AEFDBI	0.737893	0.68294	D	0.610657484214588	0.73848	6.033606	0.604381299166341	0.75257	6.278787	0.999999994103415	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.4	5.4	0.77957	4.513000	0.60194	9.762000	0.81515	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0:0.0:1.0:0.0	18.795	0.91956	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2379.33	34	chr3	73383966	.	G	A	2379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=786;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-1.722;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr3	74285307	74285307	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.C2702T:p.T901M	.	437	1079	6	0	0	6	0.00277264	0.0161	0.18	.	698288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0080	0.00359425	0.0095	0.0013	0.0024	0	0.0125	0.0143	0.0149	0.0031	0.0089197	1379	154602	rs141921900	0.0098	0.0097	0.0100	0.0095	0.0113	0.0096	0.0096	0.0111	0.0110	0.0011	0.0030	0.0017	0.0001	0.0131	0.0034	0.0113	0.0085	0.0030	0.0080	0.0081	0.0082	0.0079	0.0128	0.0077	0.0075	0.0121	0.0118	0.0015	0.0396	0.0053	0.0020	0	0.0138	0.0034	0.0128	0.0057	0.0015	0.034	0.44029	D	0.09	0.40267	T	0.004	0.12183	B	0.015	0.17295	B	0.001587	0.38554	N	0.290390	0.73933	0.33805	D	0.46	0.12951	N	0.56	0.54540	T	-1.36	0.33798	N	0.206	0.22870	-0.9641	0.38389	T	0.066	0.27364	T	10	0.004834354	0.00103	T	.	.	.	0.090	0.26093	.	.	0.494232246516	0.49056	0.38907339473874325	0.38822	0.24617174184	0.27154	0.451213866472	0.32110	T	0.123059	0.44716	T	-0.619003	0.00112	T	-0.650255	0.08936	T	0.018050021024756	0.00529	T	0.541746	0.18406	T	0.029654887	0.02495	0.059998732	0.11353	0.029654887	0.02494	0.059998732	0.11353	-5.225	0.39195	T	.	.	0.123	0.25753	B	.	.	3.708067	0.52926	23.3	0.98739609107162862	0.45482	0.94718	0.62091	D	AEFI	0.512489	0.54068	D	-0.535684375750678	0.20935	1.107315	-0.410120203248802	0.24700	1.354076	0.00135713156360695	0.08470	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.4	2.15	0.26590	3.830000	0.55469	4.270000	0.42842	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.2572:0.0:0.7428:0.0	10.829	0.45853	933	0.16026	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1814.33	34	chr3	74285307	.	G	A	1814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=750;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.483;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	18	0	1	0
chr3	75664401	75664401	C	A	exonic	FRG2C	.	nonsynonymous SNV	FRG2C:NM_001124759:exon1:c.C22A:p.P8T	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.198970959228	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs77483733	0.0024	0.0024	0.0023	0.0024	0.0610	0.0023	0.0023	0.0590	0.0582	2.993e-05	4.473e-05	0	0.0610	0.0049	0	0.0002	0.0038	0.0038	0.0024	0.0025	0.0020	0.0028	0.0502	0.0022	0.0021	0.0452	0.0432	0.0002	0	0.0001	0	0.0502	0.0038	0	0.0004	0.0014	0.0052	0.562	0.06341	T	0.741	0.04982	T	0.004	0.12183	B	0.01	0.14941	B	0.905707	0.08588	U	0.930858	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-1.56	0.37759	N	0.069	0.04188	-0.9944	0.31459	T	0.035	0.14987	T	9	0.004037738	0.00078	T	0.198971	0.86625	D	0.045	0.12272	0.144	0.04746	0.0401082797425	0.02173	0.012025101400946616	0.01161	.	.	.	.	.	0.022065	0.17078	T	-0.634606	0.00090	T	-0.630891	0.10348	T	0.0230427016499927	0.01029	T	0.211579	0.02577	T	0.04899747	0.08630	0.06833749	0.14257	0.04899747	0.08629	0.06833749	0.14257	-3.339	0.14245	T	.	.	0.055	0.00375	B	.;.	.;.	-0.841626	0.01028	0.043	0.52915801883311298	0.04839	0.01611	0.05216	N	AEFI	0.032739	0.03752	N	-1.14039961821758	0.05940	0.272127	-1.17091985999595	0.06400	0.3079492	0.704577674711711	0.22743	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	0.517	0.517	0.16223	-1.177000	0.03206	.	.	-2.788000	0.00188	0.036000	0.20778	0.000000	0.08366	0.000000	0.00833	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1792.83	70	chr3	75664401	.	C	A	1792.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.22;DP=1377;ExcessHet=0.119;FS=12.877;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.41;MQRankSum=4.79;QD=7.79;ReadPosRankSum=-0.022;SOR=0.261	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	17	0	2	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,64:138:99:0|1:75730450_C_T:2465,0,2885:75730450	0	0	19	0
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.33	121	chr3	75730602	.	C	T	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.305;DP=1584;ExcessHet=0;FS=7.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.47;MQRankSum=-5.21;QD=0.81;ReadPosRankSum=-0.125;SOR=2.503	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	18	0	1	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,6:84:17:.:.:17,0,3190:.	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,35:150:99:.:.:563,0,4463:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,48:154:99:.:.:1596,0,4106:.	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,43:167:99:0|1:75736920_C_A:1412,0,5004:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,44:166:99:0|1:75736920_C_A:1459,0,4974:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:118,21:139:99:196,0,3635	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:120,35:155:99:500,0,3601	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,60:174:99:.:.:1242,0,3748:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,63:177:99:0|1:75737092_C_T:2302,0,4593:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,63:177:99:0|1:75737092_C_T:2302,0,4597:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,63:174:99:0|1:75737092_C_T:2311,0,4471:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,54:161:99:0|1:75737092_C_T:1945,0,4330:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,32:125:99:0|1:75737092_C_T:1064,0,3788:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,6:87:2:0|1:75737228_T_C:2,0,3353:75737228	7	0	12	0
chr3	75737305	75737305	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2318G:p.L773R,ZNF717:NM_001290208:exon5:c.T2318G:p.L773R,ZNF717:NM_001290209:exon5:c.T2168G:p.L723R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.00331934626058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.61	0.53516	T	-4.05	0.74504	D	0.471	0.50688	-0.8526	0.51788	T	0.290	0.66162	T	9	0.37885755	0.54040	T	0.003319	0.07390	T	0.312	0.63375	.	.	0.339555952218	0.33569	0.04195265777246963	0.04140	.	.	0.605777144432	0.53720	T	.	.	.	-0.0399953	0.45950	T	-0.295227	0.45225	T	0.929656445980072	0.59385	D	0.718628	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.58953	A	.	.	2.543601	0.32911	19.18	0.99387992568594197	0.62202	0.15034	0.18711	N	AEFDBHCI	0.394461	0.47171	N	0.0972906044305647	0.46335	2.875525	-0.196168874740586	0.31677	1.794957	0.999999972591631	0.74766	0.632932	0.41330	0	0.666794	0.63253	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.74	1.74	0.23636	4.921000	0.63096	.	.	-0.170000	0.11276	0.822000	0.30018	0.003000	0.18671	0.001000	0.02609	1.0:0.0:0.0:0.0	7.585	0.27156	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1632.33	127	chr3	75737305	.	A	C	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=2102;ExcessHet=0;FS=4.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.61;MQRankSum=3;QD=10.33;ReadPosRankSum=-0.767;SOR=1.028	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr3	75737432	75737432	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2191G:p.M731V,ZNF717:NM_001290208:exon5:c.A2191G:p.M731V,ZNF717:NM_001290209:exon5:c.A2041G:p.M681V	.	327	1193	2	0	0	2	0.000837521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000798811264289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970408528	6.416e-06	6.841e-06	8.444e-06	4.334e-06	0.0002	3.02e-06	2.19e-06	9.22e-06	3.45e-06	0	0	0	5.567e-05	0	0.0002	1.85e-06	6.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.29720	N	.	.	.	3.32	0.06214	T	-0.1	0.08495	N	0.044	0.01658	-0.9609	0.39012	T	0.016	0.06425	T	9	0.07448462	0.11390	T	7.99E-4	0.00629	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.017995381911134797	0.01753	.	.	0.290602117777	0.09010	T	.	.	.	-0.191343	0.22062	T	-0.512627	0.21046	T	0.0411555045945869	0.03900	T	0.0953905	0.00711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02518	B	.	.	0.730558	0.10996	7.658	0.37201905252011835	0.02437	0.01152	0.04164	N	AEFDBHCI	0.073079	0.14605	N	-1.33806866314382	0.03250	0.1448652	-1.42357960019624	0.03018	0.1399707	0.99994101693999	0.47345	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.49	0.19	0.14406	-1.959000	0.01609	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2697:0.0:0.2747:0.4557	2.53	0.04415	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	179	chr3	75737432	.	T	C	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=3133;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.06;MQRankSum=1.24;QD=8.75;ReadPosRankSum=2.13;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	18	0	1	0
chr3	75737449	75737449	G	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2174G:p.T725R,ZNF717:NM_001290208:exon5:c.C2174G:p.T725R,ZNF717:NM_001290209:exon5:c.C2024G:p.T675R	.	313	1207	2	0	0	2	0.000827815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00253471366253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.138e-06	2.053e-06	1.407e-06	2.888e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	3.431e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.23	0.06931	T	0.02	0.06739	N	0.23	0.25867	-1.1097	0.03096	T	0.051	0.21650	T	9	0.16191414	0.30358	T	0.002535	0.05065	T	0.179	0.44899	.	.	0.0551355673512	0.04727	0.023024040397825355	0.02254	.	.	0.387971907854	0.23384	T	.	.	.	-0.137075	0.30356	T	-0.434675	0.29406	T	0.381920724679947	0.28256	T	0.170383	0.01611	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.409718	0.18251	13.63	0.9139004390069897	0.20656	0.31492	0.24350	N	AEFDBHCI	0.188805	0.31607	N	0.033069091646845	0.43365	2.630808	-0.199878160374372	0.31542	1.785994	0.999990884608289	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.75	1.75	0.23707	1.937000	0.39821	.	.	0.458000	0.21545	1.000000	0.71638	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	9.630	0.38936	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1772.33	193	chr3	75737449	.	G	C	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=3228;ExcessHet=0;FS=3.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.92;MQRankSum=1.19;QD=8.17;ReadPosRankSum=0.111;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	18	0	1	0
chr3	75737516	75737516	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2107G:p.M703V,ZNF717:NM_001290208:exon5:c.A2107G:p.M703V,ZNF717:NM_001290209:exon5:c.A1957G:p.M653V,ZNF717:NM_001324027:exon5:c.A2107G:p.M703V	.	325	1196	1	0	0	1	0.000417885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.000899127056802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.279e-06	4.789e-06	4.224e-06	4.336e-06	4.627e-06	1.54e-06	1.01e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.627e-06	1.718e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.18	0.09796	N	0.051	0.02272	-0.9812	0.34724	T	0.017	0.07187	T	9	0.08289203	0.13729	T	8.99E-4	0.00844	T	0.084	0.24469	.	.	0.0138822411134	0.00435	0.022592001733607987	0.02211	.	.	0.251361638308	0.03913	T	.	.	.	-0.190955	0.22116	T	-0.51207	0.21103	T	0.05938529379036	0.07071	T	0.0692931	0.00507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01986	B	.	.	0.776277	0.11463	8.068	0.50161841369890658	0.04336	0.01301	0.04519	N	AEFDBHCI	0.057376	0.10682	N	-0.877794072723842	0.11372	0.5484504	-1.01290737306039	0.09500	0.4730415	0.999950926036131	0.48110	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	1.27	0.20595	-0.669000	0.05363	.	.	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.362:0.0:0.0:0.638	3.417	0.06951	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	478.33	189	chr3	75737516	.	T	C	478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.535;DP=3305;ExcessHet=0;FS=5.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.98;MQRankSum=-4.609;QD=3.13;ReadPosRankSum=-1.895;SOR=1.009	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	18	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,91:171:99:.:.:3465,0,3060:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,109:227:99:0|1:75737590_A_G:4216,0,4614:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,116:239:99:0|1:75737590_A_G:4501,0,4816:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,119:240:99:0|1:75737590_A_G:4633,0,4723:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,110:232:99:0|1:75737590_A_G:4252,0,4792:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,101:210:99:0|1:75737590_A_G:3913,0,4273:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:183,0:183:55:.:.:0,55,4922:.	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,45:191:99:0|1:75737881_T_C:1261,0,5807:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,37:186:99:0|1:75737881_T_C:1063,0,6075:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,36:183:99:0|1:75737881_T_C:1038,0,6002:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	13	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,30:214:99:0|1:75737994_T_C:677,0,7555:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,24:200:99:0|1:75737994_T_C:478,0,7318:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,14:191:55:0|1:75737994_T_C:55,0,7390:75737994	11	0	7	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1194.93	268	chr3	75738074	.	G	A	1194.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.911;DP=3462;ExcessHet=0.7564;FS=13.466;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.6;MQRankSum=-9.806;QD=1.67;ReadPosRankSum=-2.295;SOR=2.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:178,12:190:32:0|1:75737994_T_C:0,32,7470:75737994	14	0	4	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	969.93	268	chr3	75738077	.	A	C	969.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.037;DP=3428;ExcessHet=0.7564;FS=15.621;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.63;MQRankSum=-9.456;QD=1.39;ReadPosRankSum=-2.301;SOR=2.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0:181:99:.:.:0,120,1800:.	14	0	4	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	264.83	249	chr3	75738100	.	T	C	264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.181;DP=3200;ExcessHet=0.119;FS=21.392;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-10.54;QD=1;ReadPosRankSum=-3.038;SOR=3.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,120,1800:.	17	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:112,23:135:99:240,0,3444	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:69,32:101:99:676,0,2023	1	0	18	0
chr3	77580008	77580008	G	A	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001378193:exon16:c.G2390A:p.R797Q,ROBO2:NM_001378197:exon16:c.G2390A:p.R797Q,ROBO2:NM_002942:exon16:c.G2390A:p.R797Q,ROBO2:NM_001290039:exon17:c.G2402A:p.R801Q,ROBO2:NM_001290040:exon17:c.G2402A:p.R801Q,ROBO2:NM_001290065:exon17:c.G611A:p.R204Q,ROBO2:NM_001378192:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378194:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378198:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378199:exon17:c.G2471A:p.R824Q,ROBO2:NM_001378202:exon17:c.G2402A:p.R801Q	Vesicoureteral reflux 2	0	1515	7	0	0	7	0.00230491	.	.	.	622098	Congenital_anomaly_of_kidney_and_urinary_tract|not_provided	MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.389	0.575818480957	.	.	4.973e-05	0	0	0	0	7.497e-05	0	6.057e-05	3.88e-05	6	154602	rs201678507	4.447e-05	4.446e-05	4.221e-05	4.676e-05	0.0009	3.575e-05	3.258e-05	0.0003	0.0002	2.988e-05	2.236e-05	0	0	0	0.0009	3.328e-05	8.281e-05	0.0002	2.631e-05	2.627e-05	3.857e-05	1.347e-05	6.563e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.563e-05	0	0	0	0	2.941e-05	0.0005	0	0.377	0.11478	T	0.331	0.22291	T	0.995	0.67487	D	0.87	0.61806	P	0.002315	0.36806	U	0.000000	.	.	.	0.84	0.21119	L	0.41	0.57100	T	-1.44	0.35399	N	0.921	0.93959	-0.9088	0.47001	T	0.204	0.56224	T	9	0.6948363	0.72078	D	0.575818	0.96181	D	0.389	0.70521	0.672	0.81002	0.936176637225	0.93551	0.564047401222642	0.56331	0.564210339272	0.52818	0.686376988888	0.65185	T	0.120751	0.44323	T	0.0964989	0.63912	D	0.137506	0.79383	D	0.403245389461517	0.29064	T	0.957904	0.84151	D	0.36438426	0.58167	0.23745362	0.49043	0.34447253	0.56633	0.23664348	0.48940	-6.647	0.51554	T	.	.	0.268	0.52590	B	.;.;.;.;.	.;.;.;.;.	5.394793	0.90367	31	0.99939317707407094	0.99734	0.99052	0.90523	D	AEFI	0.914426	0.87776	D	0.496038807880149	0.66857	5.004876	0.543053891707383	0.70916	5.576055	0.999999958183019	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	9.941000	0.98916	9.911000	0.82427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	19.050	0.93023	679	0.60090	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	893.33	33	chr3	77580008	.	G	A	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=712;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.49;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	18	0	1	0
chr3	77622301	77622301	C	G	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001378193:exon23:c.C3629G:p.S1210C,ROBO2:NM_002942:exon23:c.C3629G:p.S1210C,ROBO2:NM_001290039:exon24:c.C3641G:p.S1214C,ROBO2:NM_001290040:exon24:c.C3641G:p.S1214C,ROBO2:NM_001290065:exon24:c.C1850G:p.S617C,ROBO2:NM_001378192:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378197:exon24:c.C3755G:p.S1252C,ROBO2:NM_001378198:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378199:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378202:exon24:c.C3632G:p.S1211C,ROBO2:NM_001378194:exon25:c.C3827G:p.S1276C	Vesicoureteral reflux 2	0	1518	4	0	0	4	0.00131579	.	.	.	3727470	Vesicoureteral_reflux_2	MONDO:MONDO:0012573,MedGen:C1970483,OMIM:610878,Orphanet:289365	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.286	0.14622542197	.	.	2.485e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs755603547	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.025	0.56192	D	0.999	0.90584	D	0.984	0.86255	D	0.000970	0.40836	D	0.000000	.	.	.	2.22	0.62911	M	-0.15	0.68181	T	-2.9	0.60827	D	0.814	0.81459	-0.1301	0.79399	T	0.446	0.78228	T	9	0.5610354	0.64789	D	0.146225	0.82835	D	0.368	0.68757	0.392	0.41606	0.692491047091	0.68984	0.3414592856749596	0.34058	0.600408321793	0.55127	0.730992436409	0.71651	T	0.480885	0.80968	T	0.134267	0.67776	D	0.0519428	0.73712	D	0.56103002722639	0.34893	D	0.959204	0.86103	D	0.27371246	0.50438	0.29430073	0.55460	0.27371246	0.50438	0.29430073	0.55459	-6.9	0.53299	T	.	.	0.495	0.68553	A	.;.;.;.	.;.;.;.	4.466072	0.69550	25.4	0.99050237252841855	0.51230	0.98939	0.88905	D	AEFI	0.916133	0.88191	D	0.695041198458521	0.79309	7.050269	0.669872621522223	0.80098	7.223935	0.999999429847807	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.568000	0.81546	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0:1.0:0.0:0.0	19.508	0.95122	551	0.72115	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1732.33	33	chr3	77622301	.	C	G	1732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.419;DP=760;ExcessHet=0;FS=4.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.347;SOR=0.438	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr3	81499127	81499127	G	A	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon15:c.C2035T:p.R679C	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	296321	not_provided|Adult_polyglucosan_body_disease|Glycogen_storage_disease,_type_IV|Glycogen_storage_disease_IV,_classic_hepatic	MedGen:C3661900|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0894280177662	.	0.00119808	0.0012	0	0.0006	0.0006	0	0.0001	0.0017	0.0068	0.0006856	106	154602	rs202158511	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0036	0.0035	3.028e-05	0.0002	0	2.536e-05	0	0.0005	0.0002	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0.0003	0	0.0002	0	0	0.0002	0	0.0027	0.03	0.46129	D	0.059	0.45961	T	0.562	0.38380	P	0.495	0.47504	P	0.000042	0.53742	D	0.126798	0.999864	0.50061	D	2.915	0.84231	M	-1.26	0.79176	T	-5.77	0.87911	D	0.393	0.43417	-0.1894	0.77943	T	0.446	0.78197	T	10	0.011604905	0.00253	T	0.089428	0.75325	D	0.453	0.75279	.	.	0.856832758723	0.85544	0.693656659411994	0.69305	0.0542229240898	0.05990	0.359625995159	0.19331	T	0.831275	0.95974	D	-0.259618	0.12945	T	-0.145981	0.59598	T	0.237512204736352	0.22304	T	0.827017	0.49049	T	0.5143306	0.67932	0.3563095	0.61144	0.61440486	0.73465	0.34849802	0.60488	-10.366	0.76074	D	0.2623384385643773	0.35405	0.275	0.50844	B	.;.	.;.	4.936856	0.81443	27.5	0.99835171130951428	0.91628	0.90042	0.50915	D	AEFBI	0.592344	0.58809	D	0.17694476689029	0.50094	3.202732	0.152404689326532	0.47269	2.959721	0.986760971866417	0.31121	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	4.46	0.53567	4.304000	0.58899	4.996000	0.46562	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0886:0.0:0.7469:0.1645	7.372	0.25978	721	0.55360	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr3	81499127	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=718;ExcessHet=0;FS=6.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.957;SOR=1.42	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1203	18	0	1	0
chr3	81535255	81535255	A	C	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon14:c.T1874G:p.F625C	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	293011	not_provided|Glycogen_storage_disease,_type_IV|Adult_polyglucosan_body_disease	MedGen:C3661900|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.873	0.273817553358	.	.	3.398e-05	0	0	0	0	6.126e-05	0	0	2.59e-05	4	154602	rs769567764	1.233e-05	1.231e-05	9.544e-06	1.515e-05	5.402e-06	7.71e-06	6.36e-06	1.94e-06	1.28e-06	0	0	0.0002	0	0	0	5.402e-06	0.0001	0	6.581e-06	6.567e-06	0	1.347e-05	6.566e-05	0	0	.	.	0	0	6.566e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.67	0.78151	M	-1.25	0.79072	T	-6.83	0.93020	D	0.895	0.90138	0.385	0.88872	D	0.639	0.87372	D	10	0.940312	0.93357	D	0.273818	0.89979	D	0.873	0.96207	0.732	0.86547	0.977972772946	0.97773	0.8600987526389777	0.85973	0.270586652875	0.29581	0.740214943886	0.73005	T	0.742104	0.92865	D	0.280145	0.81328	D	0.272289	0.86703	D	0.97138386964798	0.69297	D	0.975402	0.91601	D	0.97184104	0.98429	0.9342301	0.97384	0.97184104	0.98429	0.9342301	0.97384	-8.949	0.67368	D	0.5754126061973124	0.64240	0.412	0.60968	A	.;.	.;.	4.985347	0.82613	27.8	0.99458943291077739	0.65684	0.99123	0.91564	D	AEBI	0.935135	0.92955	D	0.828475658996745	0.87851	9.363237	0.798221271019903	0.89669	10.07138	0.999999949828538	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	8.829000	0.91674	11.167000	0.87842	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	16.177	0.81677	645	0.63593	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1651.33	38	chr3	81535255	.	A	C	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=788;ExcessHet=0;FS=1.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=1.5;SOR=0.491	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.02632	1668.33	40	chr3	86968949	.	T	A	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=1.29;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1180	18	0	1	0
chr3	89472553	89472553	A	C	exonic	EPHA3	.	nonsynonymous SNV	EPHA3:NM_005233:exon16:c.A2780C:p.H927P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0459662479236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.038	0.51421	D	0.0	0.02946	B	0.0	0.01387	B	0.000004	0.62929	D	0.110120	0.993949	0.81001	D	-1.24	0.00794	N	-1.97	0.85173	D	-1.82	0.42763	N	0.181	0.19593	-0.6791	0.61414	T	0.259	0.62923	T	9	0.22624686	0.39474	T	0.045966	0.62234	D	0.294	0.61388	0.547	0.66156	0.911386941356	0.91049	0.41040694425895624	0.40956	0.297816076613	0.32164	0.310654461384	0.12005	T	0.144454	0.48109	T	-0.0500153	0.44444	T	-0.30962	0.43700	T	0.651855945587158	0.38542	D	0.683732	0.29211	T	0.21071462	0.43376	0.35867807	0.61340	0.21071462	0.43376	0.35867807	0.61339	-5.179	0.38728	T	.	.	0.050	0.00154	B	.	.	2.016366	0.25620	16.83	0.97401860959024944	0.33775	0.87150	0.46603	D	AEFI	0.643950	0.62038	D	-0.235687848594159	0.31680	1.778736	0.0361765120442768	0.41409	2.487242	0.0471258400803688	0.14717	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.296000	0.58852	.	.	-0.053000	0.16966	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.8551:0.1449:0.0:0.0	11.941	0.52188	574	0.70151	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2410.33	34	chr3	89472553	.	A	C	2410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1320;ExcessHet=0;FS=9.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.692;SOR=0.269	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	0	1	0
chr3	97875341	97875341	C	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C4147G:p.L1383V	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0249601	.	.	.	.	.	.	.	.	0.008414	219	26028	rs75843914	0.0046	0.0047	0.0038	0.0055	0.0702	0.0045	0.0045	0.0678	0.0669	0.0006	0.0213	0.0021	0.0702	0	0.0025	0.0002	0.0059	0.0425	0.0049	0.0050	0.0037	0.0062	0.0548	0.0046	0.0045	0.0496	0.0475	0.0009	0	0.0120	0.0014	0.0548	0	0.0034	0.0003	0.0043	0.0445	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	0.0036702454	0.00067	T	.	.	.	.	.	.	.	0.61907107664	0.61598	0.006938976387440674	0.00660	.	.	.	.	.	3.93E-4	0.00124	T	-0.592346	0.00162	T	-0.560261	0.16352	T	.	.	.	0.29697	0.05508	T	0.034461148	0.03870	0.09793139	0.23330	0.034461148	0.03870	0.09793139	0.23329	-3.433	0.15504	T	.	.	0.052	0.00239	B	.	.	-1.091764	0.00650	0.018	0.49300846330134845	0.04186	0.00533	0.02466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00212894333082125	0.09174	0.162113	0.03585	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24566	0.04862	0	0.22281	0.31441	5.54	-1.58	0.08029	-0.145000	0.10248	-0.022000	0.12912	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2729:0.1138:0.4988:0.1145	3.049	0.05790	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1222.33	41	chr3	97875341	.	C	G	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.227;DP=1346;ExcessHet=0;FS=10.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.21;SOR=0.199	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3251.33	41	chr3	97876101	.	T	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=2547;ExcessHet=0;FS=2.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.39;SOR=0.881	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	18	0	1	0
chr3	97876355	97876355	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5161C:p.D1721H	.	546	962	14	0	0	14	0.00722394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs184723985	0.0018	0.0013	0.0017	0.0019	0.0045	0.0017	0.0017	0.0026	0.0021	0.0002	0.0021	0.0314	3.77e-05	0.0001	0.0045	0.0014	0.0033	0.0009	0.0019	0.0019	0.0018	0.0020	0.0019	0.0017	0.0016	0.0015	0.0014	0.0004	0.0066	0.0019	0.0283	0	0	0.0034	0.0018	0.0038	0.0015	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	0.007268429	0.00165	T	.	.	.	.	.	.	.	0.652000541684	0.64910	0.047204641125051655	0.04663	.	.	.	.	.	0.007194	0.06605	T	-0.334989	0.05743	T	-0.261229	0.48701	T	.	.	.	0.576842	0.20728	T	0.12326695	0.28948	0.27458337	0.53388	0.12326695	0.28948	0.27458337	0.53387	-5.962	0.45960	T	.	.	0.213	0.44148	B	.	.	1.889782	0.24000	16.23	0.58158180620391209	0.05930	0.11385	0.16599	N	AEFBI	.	.	.	.	.	.	.	.	.	7.03257526286482E-4	0.07666	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.777257	0.45976	5.17	4.22	0.49153	0.692000	0.25161	2.076000	0.30469	0.676000	0.76740	0.035000	0.20724	0.027000	0.21108	0.427000	0.27384	0.0941:0.165:0.7409:0.0	8.135	0.30208	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2555.33	41	chr3	97876355	.	G	C	2555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=2401;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.633;SOR=0.754	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	18	0	1	0
chr3	97959130	97959130	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C602T:p.P201L,RIOX2:NM_001261829:exon4:c.C602T:p.P201L,RIOX2:NM_032778:exon4:c.C602T:p.P201L,RIOX2:NM_153182:exon4:c.C602T:p.P201L	.	424	1076	20	2	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0600294035795	0.0054	0.00279553	0.0057	0.0011	0.0086	0	0.0044	0.0077	0.0088	0.0018	0.0056791	878	154602	rs56183666	0.0069	0.0069	0.0070	0.0067	0.0102	0.0067	0.0067	0.0081	0.0075	0.0009	0.0080	0.0111	0	0.0037	0.0102	0.0077	0.0073	0.0012	0.0052	0.0052	0.0055	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0011	0	0.0077	0.0101	0.0002	0.0041	0.0102	0.0078	0.0080	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.20959	T	-9.16	0.98474	D	0.911	0.91276	-0.5538	0.66642	T	0.172	0.51405	T	10	0.0103621185	0.00231	T	0.060029	0.67865	D	0.480	0.77077	.	.	0.677007972574	0.67426	0.8165847900631961	0.81614	0.419956848209	0.42533	0.541483700275	0.44656	T	0.194756	0.55062	T	-0.162868	0.26320	T	-0.000610659	0.70296	D	0.179403686056173	0.19197	T	0.957304	0.94010	D	0.9434746	0.95602	0.93115646	0.97174	0.9434746	0.95602	0.93115646	0.97174	-13.665	0.92184	D	.	.	0.565	0.68098	P	.;.;.;.	.;.;.;.	5.286213	0.88757	29.7	0.99909547267073862	0.97949	0.98958	0.89172	D	AEFDBI	0.862216	0.78045	D	1.01259695378206	0.96120	14.32271	0.944203309665823	0.97226	15.78445	0.999999999999989	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.090000	0.93496	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.845	0.96701	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	619.33	33	chr3	97959130	.	G	A	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=662;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.921;SOR=0.951	GT:AD:DP:GQ:PL	0/1:17,22:39:99:633,0,419	18	0	1	0
chr3	98132708	98132708	A	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.11delA:p.N5Mfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472079441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.578e-06	6.568e-06	0	1.347e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3344.29	41	chr3	98132707	.	GA	G	3344.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.287;DP=1738;ExcessHet=0;FS=2.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.46;MQRankSum=-0.273;QD=14.42;ReadPosRankSum=-1.29;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1350	18	0	1	0
chr3	98132879	98132879	T	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.T182C:p.L61S	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00213903153302	0.0002	.	0.0002	0	8.72e-05	0	0	0.0004	0	0.0001	7.68e-05	2	26028	rs374301921	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	2.989e-05	0.0003	0.0005	0	0	0.0014	0.0002	0.0004	0.0001	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	0.0008	0.0003	0	0	0	0.0003	0.0014	0	0.048	0.40068	D	0.042	0.50226	D	0.447	0.36006	B	0.128	0.32786	B	0.195283	0.16740	N	0.440664	0.999953	0.19072	N	1.195	0.30194	L	7.21	0.00433	T	-4.18	0.75537	D	0.451	0.48872	-0.8839	0.49448	T	0.001	0.00408	T	10	0.05077949	0.04862	T	0.002139	0.03989	T	0.129	0.35316	.	.	0.389904358541	0.38601	0.2927559015561627	0.29188	0.380299228091	0.39395	0.236000180244	0.02442	T	0.008446	0.07757	T	-0.361617	0.04039	T	-0.451238	0.27561	T	0.105943620204926	0.12998	T	0.690631	0.30012	T	0.3050177	0.53351	0.32545573	0.58461	0.3050177	0.53351	0.32545573	0.58460	-6.408	0.49572	T	.	.	0.388	0.58913	A	.;.	.;.	2.687056	0.35067	19.80	0.98003586155743949	0.37498	0.22861	0.21887	N	AEFI	0.119934	0.23385	N	-0.395874126374815	0.25616	1.391831	-0.410365089986413	0.24693	1.353641	2.96292211136304E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	2.210000	0.42455	.	.	0.430000	0.20916	0.029000	0.20367	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	10.101	0.41677	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000595	0.000000	0.000000	0.000000	0.000000	0.000000	0.003731	0.000000	0.02632	5134.33	41	chr3	98132879	.	T	C	5134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=1886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.47;MQRankSum=-0.447;QD=13.66;ReadPosRankSum=-0.419;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1350	18	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	487.75	41	chr3	98133455	.	GACCCC	G	487.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.825;DP=1767;ExcessHet=0.3672;FS=79.695;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=0.637;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	16	0	3	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	14	0	5	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3550.9	41	chr3	98133456	.	ACCCC	*	3550.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:79,0:119:99:0|1:98133456_ACCCC_A:1070,1305,4272:98133456	16	0	3	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	412.34	59	chr3	98133457	.	C	G	412.34	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:79,0:119:99:0|1:98133456_ACCCC_A:1070,1305,4272:98133456	10	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:98133456_ACCCC_A:1070,0,2848:98133456	4	0	7	8
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4817.21	59	chr3	98133460	.	C	CGGGGG	4817.21	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:78,0:118:99:0|1:98133456_ACCCC_A:1073,1305,4238:98133456	9	0	3	7
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,40:118:99:0|1:98133456_ACCCC_A:1073,0,2814:98133456	7	0	5	7
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4817.21	59	chr3	98133460	.	C	G	4817.21	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:78,0:118:99:0|1:98133456_ACCCC_A:1073,1305,4238:98133456	10	0	2	7
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	2226.54	47	chr3	98133463	.	C	T	2226.54	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0:76:0:.:.:0,0,1786:.	17	0	1	1
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2226.54	47	chr3	98133463	.	C	G	2226.54	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:76,0:76:0:.:.:0,0,1786:.	14	0	4	1
chr3	98149398	98149398	A	T	exonic	OR5H14	.	nonsynonymous SNV	OR5H14:NM_001005514:exon1:c.A13T:p.N5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00630487212058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000372	0.45194	D	0.000000	1	0.08975	N	3.6	0.93737	H	2.47	0.14783	T	-7.71	0.95665	D	0.6	0.61849	-0.9054	0.47401	T	0.163	0.49881	T	10	0.5401185	0.63671	D	0.006305	0.16551	T	0.094	0.27141	0.5	0.59147	0.226586394389	0.22295	0.12827193926158556	0.12752	0.0906683578425	0.10232	0.333424270153	0.15451	T	0.090425	0.38583	T	-0.0966685	0.36976	T	-0.376634	0.36116	T	0.997502744197845	0.91716	D	0.90141	0.65732	D	0.69060284	0.77544	0.5455719	0.73732	0.69060284	0.77546	0.5455719	0.73732	-9.901	0.73316	D	.	.	0.194	0.41480	B	.;.	.;.	3.760212	0.53945	23.4	0.98758353337374116	0.45770	0.79055	0.39103	D	AEFI	0.141129	0.26322	N	0.255694743139305	0.53922	3.559118	-0.0297755432139627	0.38375	2.260117	1.83599889239543E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	3.611000	0.53881	.	.	0.476000	0.22017	0.784000	0.29521	0.697000	0.26210	0.089000	0.17737	1.0:0.0:0.0:0.0	8.422	0.31866	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3209.33	39	chr3	98149398	.	A	T	3209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.739;DP=1792;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.02;MQRankSum=1.84;QD=13.05;ReadPosRankSum=2.43;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	18	0	1	0
chr3	98264780	98264780	A	G	exonic	OR5H6	.	nonsynonymous SNV	OR5H6:NM_001005479:exon1:c.A448G:p.I150V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.000804722537784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.507352	0.05127	N	1.332910	1	0.08975	N	0.665	0.16292	N	.	.	.	.	.	.	.	.	-1.0268	0.21494	T	0.029	0.12234	T	10	0.03802216	0.02194	T	8.05E-4	0.00629	T	.	.	0.306	0.27646	.	.	0.0593043815327894	0.05870	.	.	0.189243301749	0.00212	T	0.001644	0.01075	T	-0.410397	0.01975	T	-0.827284	0.01311	T	0.0466402419586564	0.04900	T	0.10199	0.01283	T	0.042621266	0.06497	0.026816418	0.00793	0.042621266	0.06496	0.026816418	0.00793	-3.631	0.18306	T	.	.	0.072	0.04356	B	.;.;.	.;.;.	-1.890002	0.00129	0.002	0.42842313126610915	0.03185	0.00139	0.00851	N	AEI	0.030977	0.03221	N	-2.52503465746352	0.00014	0.0006021608	-2.57978518766043	0.00015	0.0006691082	0.0025565459975026	0.09527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.19	-4.38	0.03371	-7.296000	0.00050	.	.	-4.312000	0.00033	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3238:0.1509:0.2236:0.3018	0.132	0.00069	762	0.50290	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2591.33	169	chr3	98264780	.	A	G	2591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=2753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.689;SOR=0.714	GT:AD:DP:GQ:PL	0/1:128,99:227:99:2605,0,3355	18	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.05263	5457.83	33	chr3	98283014	.	A	G	5457.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.279;DP=1714;ExcessHet=0.119;FS=1.094;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.59;SOR=0.784	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	17	0	2	0
chr3	98354007	98354007	G	A	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.G154A:p.E52K	.	428	1092	2	0	0	2	0.000914913	.	.	.	2375524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00146450042141	0.0005	.	0.0008	0	0.0002	0	0.0012	0.0010	0.0022	0.0011	0.0006598	102	154602	rs139874815	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	8.961e-05	8.944e-05	0	0	0.0016	0.0007	0.0007	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0004	0.0001	0	0.0001	0	0	0.0012	0	0.0006	0.0005	0.0010	0.023	0.48186	D	0.003	0.76473	D	0.01	0.15535	B	0.021	0.19346	B	0.005811	0.32491	U	0.000000	1	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-3.03	0.62747	D	0.103	0.08646	-0.9694	0.37324	T	0.005	0.01797	T	10	0.022303313	0.00554	T	0.001465	0.02215	T	0.095	0.27398	.	.	0.143124449307	0.13826	0.28674312363362076	0.28587	0.00840729258209	0.00763	0.262499809265	0.05191	T	0.010234	0.09261	T	-0.551468	0.00286	T	-0.610474	0.11947	T	0.0227498983911667	0.00994	T	0.108289	0.00809	T	0.14042582	0.32399	0.16351962	0.37929	0.14042582	0.32399	0.16351962	0.37928	-6.532	0.50533	T	.	.	0.255	0.48968	B	.	.	1.733287	0.22059	15.46	0.97654391117581552	0.35155	0.08655	0.14553	N	AEFI	0.067537	0.13282	N	-0.756312512921483	0.14461	0.720604	-0.780418058395976	0.14975	0.7852814	1.67985311817997E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	3.9	0.44240	0.427000	0.21098	.	.	-0.888000	0.02403	0.001000	0.13787	0.785000	0.26813	0.000000	0.00833	0.1889:0.0:0.8111:0.0	7.681	0.27680	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3056.33	37	chr3	98354007	.	G	A	3056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=857;ExcessHet=0;FS=3.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.17;ReadPosRankSum=0.84;SOR=0.954	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr3	98354353	98354353	C	T	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.C500T:p.T167I	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00116257791848	.	0.000798722	0.0006	0	0.0003	0	0	0.0002	0	0.0035	0.0005627	87	154602	rs200319864	0.0003	0.0003	0.0003	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0001	0	0	0	0.0024	0.0002	0.0005	0.0033	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	0	0	0.0002	0	0	0.0002	0.0009	0.0035	0.027	0.46513	D	0.093	0.39799	T	0.091	0.25247	B	0.158	0.34617	B	0.082869	0.20785	U	0.245457	1	0.08975	N	2.005	0.54552	M	8.73	0.00091	T	-4.72	0.79998	D	0.237	0.26717	-1.0255	0.21919	T	0.001	0.00255	T	10	0.011091977	0.00244	T	0.001163	0.01459	T	0.065	0.18881	.	.	0.146414634003	0.14194	0.11858389257733806	0.11785	0.0103282779288	0.00949	0.212327748537	0.00914	T	0.008401	0.07715	T	-0.542561	0.00323	T	-0.554864	0.16861	T	0.0866907032853627	0.10821	T	0.727127	0.34152	T	0.23283513	0.46078	0.3193494	0.57897	0.23283513	0.46078	0.3193494	0.57896	-6.088	0.47010	T	.	.	0.188	0.40457	B	.	.	1.762983	0.22423	15.61	0.99344118048459207	0.60291	0.11086	0.16398	N	AEFI	0.088665	0.17974	N	-0.42138307726111	0.24721	1.336837	-0.451914550562452	0.23495	1.281552	6.55504801669791E-6	0.01202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	3.14	0.35196	0.251000	0.18025	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.0:0.7598:0.1543:0.0859	8.581	0.32788	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2342.33	37	chr3	98354353	.	C	T	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=913;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.015;SOR=0.657	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr3	98469641	98469641	A	G	exonic	OR5K1	.	nonsynonymous SNV	OR5K1:NM_001004736:exon1:c.A65G:p.E22G	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00246543017696	0.0027	0.000798722	0.0021	0.0005	0.0018	0	0.0002	0.0032	0.0011	0.0010	0.0019469	301	154602	rs190259915	0.0023	0.0023	0.0023	0.0023	0.0073	0.0022	0.0022	0.0055	0.0049	0.0004	0.0018	0.0205	2.519e-05	0.0003	0.0073	0.0021	0.0039	0.0010	0.0022	0.0022	0.0023	0.0020	0.0045	0.0020	0.0019	0.0036	0.0033	0.0004	0	0.0045	0.0216	0	0.0003	0.0034	0.0024	0.0009	0.0006	0.222	0.18823	T	0.134	0.34241	T	0.003	0.11197	B	0.005	0.11217	B	0.016489	0.27965	N	0.165696	0.999866	0.19989	N	1.56	0.39490	L	7.4	0.00411	T	-3.21	0.64826	D	0.114	0.10198	-0.9330	0.43695	T	0.001	0.00287	T	10	0.0047115386	0.00099	T	0.002465	0.04868	T	0.122	0.33800	.	.	0.562540394707	0.55916	0.16676417018101172	0.16596	0.0219589980584	0.02200	0.211319386959	0.00868	T	0.030826	0.21757	T	-0.613179	0.00121	T	-0.658492	0.08369	T	0.0189501159278525	0.00605	T	0.0263974	0.00160	T	0.11977177	0.28196	0.19219825	0.42721	0.11977177	0.28195	0.19219825	0.42720	-5.69	0.43605	T	.	.	0.110	0.21125	B	.;.	.;.	1.986168	0.25231	16.69	0.98704123096557006	0.44953	0.96821	0.71120	D	AEFGI	0.380193	0.46292	N	-0.318731664849088	0.28436	1.568469	-0.239865086665649	0.30123	1.693331	0.00259263629106932	0.09558	0.487112	0.14033	0	0.573888	0.26702	0	0.446627	0.06593	0	0.542086	0.14980	0	.	.	5.05	3.85	0.43556	3.307000	0.51597	.	.	0.667000	0.69007	0.108000	0.22953	0.018000	0.20648	0.610000	0.31640	0.9107:0.0:0.0893:0.0	9.207	0.36455	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3814.33	35	chr3	98469641	.	A	G	3814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.271;DP=926;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.27;MQRankSum=-2.123;QD=15.57;ReadPosRankSum=1.08;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	18	0	1	0
chr3	98580709	98580709	G	A	exonic	CPOX	.	nonsynonymous SNV	CPOX:NM_000097:exon7:c.C1339T:p.R447C	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	15498	not_provided|Hereditary_coproporphyria|Coproporphyria	MedGen:C3661900|MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273|MedGen:C0342856	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.856	0.130931915103	7.7e-05	0.000199681	0.0005	9.614e-05	8.66e-05	0	0	0.0006	0.0022	0.0012	0.0004916	76	154602	rs28931603	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0011	0.0011	0.0001	8.944e-05	0	2.519e-05	5.617e-05	0.0003	0.0003	0.0002	0.0013	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	7.213e-05	0.0022	0.0002	0	0	0	0	0.0004	0.0005	0.0008	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.931	0.66596	D	0.000000	0.84330	D	0.049049	1	0.81001	A	2.965	0.85198	M	-3.23	0.93414	D	-5.89	0.88767	D	0.841	0.83678	1.033	0.97771	D	0.872	0.95748	D	9	0.5640648	0.64950	D	0.130932	0.81314	D	0.856	0.95581	.	.	0.946289092156	0.94572	0.724178119186816	0.72361	1.67917241818	0.89949	0.526952803135	0.42605	T	0.721312	0.92126	D	0.0434571	0.57496	T	0.244095	0.85341	D	0.226823409425112	0.21799	T	0.995839	0.98556	D	0.69564253	0.77818	0.3690235	0.62181	0.577449	0.71470	0.46184576	0.68751	-8.199	0.62419	D	0.3586552622947066	0.45528	0.119	0.24294	B	.;.	.;.	5.444201	0.90971	32	0.99914058298546604	0.98238	0.98053	0.79201	D	AEFGBI	0.827079	0.74643	D	0.73888704046814	0.82179	7.69923	0.670749664784127	0.80164	7.238399	0.999999851734118	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	3.83	0.43287	6.178000	0.71900	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0778:0.0:0.7782:0.144	9.195	0.36385	484	0.77165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	33	chr3	98580709	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=719;ExcessHet=0;FS=1.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.441;SOR=0.905	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:149,37:186:99:190,0,3056	11	0	6	2
chr3	100320904	100320904	C	G	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_018309:exon17:c.C1906G:p.P636A,TBC1D23:NM_001199198:exon18:c.C1951G:p.P651A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.037891471475	.	.	4.145e-05	0	0	0	0	1.508e-05	0.0011	0.0002	3.88e-05	6	154602	rs766251210	3.423e-05	3.42e-05	2.452e-05	4.404e-05	0.0005	2.634e-05	2.377e-05	0.0002	0.0002	0	2.239e-05	0	0	0	0.0005	1.26e-05	6.629e-05	0.0003	1.972e-05	1.969e-05	1.286e-05	2.688e-05	0.0002	5.24e-06	2.45e-06	.	.	2.41e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.144	0.26629	T	0.174	0.30045	T	0.99	0.63424	D	0.857	0.61067	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.545	0.39105	L	1.11	0.39781	T	-5.17	0.85397	D	0.924	0.92784	-0.7784	0.56392	T	0.221	0.58421	T	9	0.7353759	0.74583	D	0.037891	0.57891	D	0.283	0.60100	0.328	0.31196	0.543165868402	0.53969	0.6300774595900699	0.62941	0.863152698956	0.69054	0.772356033325	0.77778	T	0.296151	0.66879	T	-0.107345	0.35206	T	-0.0859934	0.64462	T	0.472842514514923	0.31635	T	0.970803	0.89999	D	0.40703183	0.61217	0.33247527	0.59095	0.47094637	0.65349	0.36346325	0.61732	-11.101	0.80209	D	.	.	0.870	0.81952	P	.;.;.	.;.;.	4.759487	0.76940	26.6	0.99621499664899071	0.75473	0.99015	0.89987	D	AEFDBHI	0.844695	0.76164	D	0.695733208976983	0.79352	7.059743	0.703713649240825	0.82661	7.822541	0.999999999834125	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	7.452000	0.79743	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93728	504	0.75712	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	623.33	27	chr3	100320904	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=695;ExcessHet=0;FS=6.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.601;SOR=1.341	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.05263	1387.83	34	chr3	100775231	.	C	G	1387.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.204;DP=719;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.776;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	17	0	2	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,6:36:44:.:.:0,44,747:.	7	0	11	1
chr3	101242904	101242904	C	G	exonic	IMPG2	.	nonsynonymous SNV	IMPG2:NM_016247:exon14:c.G2806C:p.V936L	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0280324295809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.841e-07	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	1.18	0.37746	T	-1.4	0.34596	N	0.343	0.38438	-0.9961	0.31001	T	0.147	0.47255	T	10	0.42235488	0.56948	T	0.028032	0.50763	D	0.216	0.50959	0.438	0.49157	0.72916163003	0.72675	0.4936535912255155	0.49286	0.380877868181	0.39448	0.772289156914	0.77768	T	0.088848	0.38246	T	-0.0330824	0.46968	T	-0.285297	0.46259	T	0.973632156848907	0.70176	D	0.921608	0.71541	D	0.26285192	0.49348	0.23741142	0.49038	0.26285192	0.49348	0.23741142	0.49037	-5.556	0.42388	T	0.6442071349368309	0.71536	0.487	0.63997	A	.	.	4.036958	0.59739	24.1	0.99741182614761226	0.83482	0.98097	0.79572	D	AEFBI	0.879732	0.80589	D	0.573391220638474	0.71516	5.662984	0.606080461220114	0.75379	6.300418	0.999999999963597	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.17	5.17	0.70848	4.667000	0.61255	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	19.048	0.93013	279	0.89001	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	37	chr3	101242904	.	C	G	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=1.05;QD=13.51;ReadPosRankSum=0.195;SOR=0.73	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	101366549	101366549	A	G	exonic	SENP7	.	nonsynonymous SNV	SENP7:NM_001282803:exon6:c.T707C:p.I236T,SENP7:NM_001077203:exon8:c.T1004C:p.I335T,SENP7:NM_001282801:exon8:c.T1001C:p.I334T,SENP7:NM_001282802:exon8:c.T1100C:p.I367T,SENP7:NM_020654:exon9:c.T1199C:p.I400T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00199510547226	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.059e-05	1.94e-05	3	154602	rs772499577	1.026e-05	1.026e-05	5.446e-06	1.513e-05	0.0003	6.16e-06	4.89e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.095e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	1.0	0.04728	T	1.0	0.09298	T	0.0	0.02946	B	0.0	0.04355	B	0.591292	0.11047	N	0.836031	1	0.08975	N	-0.895	0.01383	N	2.29	0.17113	T	0.43	0.03297	N	0.006	0.00527	-0.9676	0.37693	T	0.010	0.03719	T	10	0.029911578	0.01117	T	0.001995	0.03588	T	0.004	0.00165	0.185	0.09388	0.0675242888579	0.06100	0.039968995342167926	0.03942	0.140071736936	0.15782	0.27424159646	0.06702	T	2.83E-4	0.01384	T	-0.529254	0.00388	T	-0.901159	0.00494	T	0.019571753599083	0.00660	T	0.594141	0.21965	T	0.03002865	0.02596	0.035197467	0.02727	0.03002865	0.02596	0.035197467	0.02726	-2.716	0.07567	T	.	.	0.047	0.00130	B	.;.;.;.;.	.;.;.;.;.	-1.071827	0.00675	0.019	0.12759056678847575	0.00231	0.00740	0.03091	N	AEFGBI	0.013237	0.00169	N	-2.04458709286432	0.00169	0.007256682	-1.99103389525849	0.00320	0.01412882	3.75003092740647E-4	0.06745	0.651	0.46895	0	0.633656	0.55848	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.66	-4.1	0.03674	-1.385000	0.02646	-0.169000	0.11245	-1.758000	0.00680	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2119:0.1814:0.4615:0.1452	3.585	0.07518	216	0.91608	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1766.33	38	chr3	101366549	.	A	G	1766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=775;ExcessHet=0;FS=4.211;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.128;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1226	18	0	1	0
chr3	101849911	101849911	C	A	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon1:c.C283A:p.Q95K	.	438	1082	2	0	0	2	0.000923361	.	.	.	3214670	NFKBIZ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.111454458825	.	.	0.0011	0	0	0	.	0.0031	0	0.0007	0.0002652	41	154602	rs779117101	0.0039	0.0036	0.0040	0.0038	0.0046	0.0038	0.0038	0.0045	0.0044	0.0005	0.0006	0.0004	0	0.0016	0.0025	0.0046	0.0022	0.0010	0.0024	0.0024	0.0025	0.0023	0.0037	0.0022	0.0021	0.0033	0.0032	0.0007	0.0363	0.0010	0.0006	0	0.0024	0	0.0037	0.0005	0.0010	1.0	0.17881	T	0.302	0.32891	T	0.002	0.09854	B	0.003	0.08700	B	0.464394	0.04888	N	1.442940	1	0.18878	N	0	0.06538	N	0.7	0.51474	T	-1.11	0.28703	N	0.05	0.02366	-1.0180	0.24366	T	0.071	0.29001	T	10	0.0035072267	0.00063	T	0.111454	0.78924	D	0.050	0.13987	.	.	0.271610670623	0.26767	0.041503845988275945	0.04095	0.296176561892	0.32004	0.714493870735	0.69245	T	0.021547	0.44778	T	-0.438671	0.01317	T	-0.402493	0.33096	T	0.0268270086750162	0.01519	T	0.640436	0.25296	T	0.15036616	0.34235	0.0959983	0.22791	0.15036616	0.34235	0.0959983	0.22790	-3.516	0.16657	T	.	.	0.138	0.30049	B	.;.;.	.;.;.	1.598825	0.20445	14.75	0.92025055095039776	0.21364	0.10914	0.16280	N	ALL	0.042434	0.06585	N	-0.78864551197682	0.13605	0.6714519	-0.705969767649621	0.16812	0.8911254	0.999999999983678	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.33	1.19	0.20120	0.785000	0.26491	0.894000	0.22496	0.448000	0.21234	0.070000	0.22072	0.002000	0.18203	0.756000	0.36000	0.0:0.5751:0.3285:0.0964	7.234	0.25234	875	0.30485	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	211.34	7	chr3	101849911	.	C	A	211.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=285;ExcessHet=0;FS=2.158;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.493;SOR=0.223	GT:AD:DP:GQ:PL	0/0:15,0:15:33:0,33,495	18	0	1	0
chr3	101852898	101852898	C	G	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon4:c.C473G:p.T158R,NFKBIZ:NM_001005474:exon5:c.C173G:p.T58R	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.025466746736	0.0002	.	0.0006	0.0002	8.637e-05	0	0	0.0003	0.0011	0.0028	0.0004592	71	154602	rs200501545	0.0003	0.0003	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	0.0002	0	5.038e-05	1.872e-05	0.0026	0.0002	0.0005	0.0028	0.0003	0.0003	0.0001	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	4.815e-05	0	0.0008	0	0.0002	0	0.0034	0.0002	0.0005	0.0025	0.014	0.56456	D	0.02	0.59732	D	0.045	0.31412	B	0.045	0.24526	B	0.222627	0.16102	N	0.627172	0.999906	0.19694	N	1.59	0.40313	L	0.55	0.55439	T	-0.57	0.62747	N	0.346	0.38746	-1.0344	0.19046	T	0.074	0.29865	T	10	0.005786538	0.00129	T	0.025467	0.48437	D	0.157	0.40909	.	.	0.387796008065	0.38391	0.40951504944090567	0.40867	0.30562062205	0.32864	0.29991799593	0.10389	T	0.188919	0.54297	T	-0.400702	0.02291	T	-0.352972	0.38864	T	0.0180281534868893	0.00527	T	0.760524	0.38496	T	0.10958825	0.25909	0.11487651	0.27730	0.10958825	0.25909	0.11487651	0.27730	-4.245	0.29598	T	.	.	0.177	0.46401	B	.;.;.;.;.	.;.;.;.;.	1.559149	0.19974	14.53	0.89784635165409099	0.19099	0.33219	0.24775	N	AEFDBCI	0.171200	0.29815	N	-0.695533902895842	0.16148	0.8201956	-0.666914051830135	0.17790	0.9475198	0.999999594075001	0.74766	0.489673	0.17934	0	0.516746	0.08562	0	0.575934	0.27490	0	0.662433	0.64102	0	.	.	5.62	2.48	0.29194	1.158000	0.31347	1.461000	0.26681	0.599000	0.40250	0.014000	0.18986	0.010000	0.20010	0.195000	0.21750	0.0:0.4331:0.0:0.5669	5.278	0.14971	875	0.30485	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1196.33	39	chr3	101852898	.	C	G	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.038;DP=812;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.105;SOR=0.542	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr3	105524427	105524427	A	C	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon3:c.A313C:p.I105L,ALCAM:NM_001243281:exon3:c.A313C:p.I105L,ALCAM:NM_001243283:exon3:c.A313C:p.I105L,ALCAM:NM_001627:exon3:c.A313C:p.I105L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0188285542578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894	0.02459	T	0.288	0.92824	T	0.993	0.65571	D	0.987	0.77487	D	0.000000	0.84330	D	0.050313	0.99993	0.51612	D	0.83	0.20963	L	0.04	0.62051	T	-0.04	0.07590	N	0.561	0.58543	-0.7717	0.56764	T	0.253	0.62269	T	10	0.31940135	0.49327	T	0.018829	0.41019	T	0.220	0.51569	0.422	0.46529	0.516939936371	0.51336	0.7567292228760127	0.75620	0.252438216393	0.27810	0.613391876221	0.54796	T	0.106294	0.41752	T	0.0498217	0.58320	T	-0.166211	0.57788	T	0.581144273281097	0.35663	D	0.918208	0.70605	D	0.3584692	0.57718	0.2214508	0.46955	0.3584692	0.57719	0.2214508	0.46954	-3.115	0.11867	T	.	.	0.146	0.32709	B	.;.;.	.;.;.	3.333471	0.45896	22.2	0.89635341741724328	0.18968	0.92984	0.57033	D	AEFBI	0.733335	0.67980	D	0.333997140088821	0.57900	3.95944	0.408636410053289	0.62101	4.420119	0.999999998284012	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	4.696000	0.61460	11.245000	0.90552	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.134	0.81276	636	0.64483	Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	34	chr3	105524427	.	A	C	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-0.784;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	18	0	1	0
chr3	107377771	107377771	G	A	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.G184A:p.G62R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0081	0.00499201	0.0020	0.0222	0.0007	0	0	7.494e-05	0.0022	0	0.0018823	291	154602	rs116546605	0.0007	0.0007	0.0008	0.0006	0.0231	0.0006	0.0006	0.0217	0.0212	0.0231	0.0015	0	7.559e-05	1.872e-05	0.0009	3.597e-05	0.0014	0.0002	0.0064	0.0064	0.0065	0.0063	0.0219	0.0060	0.0059	0.0207	0.0203	0.0219	0	0.0025	0	0	9.434e-05	0	0.0001	0.0038	0.0004	0.096	0.31088	T	0.018	0.59732	D	0.17	0.28703	B	0.027	0.21085	B	0.130384	0.18660	N	0.441579	0.999995	0.08975	N	0	0.06538	N	0.84	0.47477	T	1.67	0.00599	N	0.201	0.22228	-1.0618	0.11312	T	0.030	0.12979	T	10	0.0035351217	0.00063	T	.	.	.	0.044	0.11924	0.162	0.06618	0.107399877778	0.10242	0.04046608837318997	0.03992	0.0465308909399	0.05060	0.295031487942	0.09662	T	0.002022	0.01432	T	-0.665765	0.00058	T	-0.711516	0.05218	T	0.0134037528383482	0.00243	T	0.284172	0.05010	T	0.028765023	0.02265	0.066893935	0.13764	0.028765023	0.02265	0.066893935	0.13764	-3.795	0.20730	T	.	.	0.095	0.14933	B	.	.	2.326665	0.29799	18.24	0.88973468746993489	0.18406	0.47105	0.27909	N	AEFDBI	0.122462	0.23761	N	-0.811495939471922	0.13016	0.6383349	-0.739208220942943	0.15987	0.8436074	0.0986880301957099	0.16311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.74	0.23636	2.192000	0.42281	1.370000	0.25949	-0.825000	0.02924	0.987000	0.36337	0.831000	0.27213	0.000000	0.00833	0.3394:0.0:0.6606:0.0	7.921	0.29006	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	2268.33	36	chr3	107377771	.	G	A	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=996;ExcessHet=0;FS=3.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.485;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1366	18	0	1	0
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.02632	700.33	34	chr3	107747993	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.392;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=2.77;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr3	108353673	108353673	C	T	exonic	HHLA2	.	nonsynonymous SNV	HHLA2:NM_001282556:exon4:c.C311T:p.A104V,HHLA2:NM_001282557:exon4:c.C311T:p.A104V,HHLA2:NM_001370244:exon4:c.C311T:p.A104V,HHLA2:NM_007072:exon4:c.C311T:p.A104V,HHLA2:NM_001282558:exon5:c.C311T:p.A104V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.046612615768	.	.	3.326e-05	0	0	0	0	4.508e-05	0	6.073e-05	2.59e-05	4	154602	rs771206254	2.532e-05	2.531e-05	2.451e-05	2.614e-05	0.0001	1.868e-05	1.631e-05	3.984e-05	2.374e-05	0.0001	2.24e-05	3.827e-05	0	1.873e-05	0	2.159e-05	0	6.957e-05	8.548e-05	8.538e-05	0.0001	6.731e-05	0.0002	4.961e-05	3.965e-05	0.0001	8.458e-05	0.0002	0	6.555e-05	0	0	0	0	4.412e-05	0	0	0.367	0.45756	T	0.0	0.92824	D	0.998	0.73220	D	0.923	0.65830	D	0.000916	0.41128	D	0.000000	0.67604	0.81001	D	1.675	0.43121	L	-0.12	0.64630	T	-2.1	0.61865	N	0.678	0.72656	-0.5228	0.67811	T	0.288	0.65997	T	10	0.8000406	0.79420	D	0.046613	0.62540	D	0.408	0.72022	0.772	0.89846	0.787118677529	0.78515	0.42616866438014245	0.42533	0.655725557415	0.58609	0.369136095047	0.20709	T	0.047617	0.41014	T	-0.170831	0.25109	T	-0.301636	0.44553	T	0.748897671699524	0.43224	D	0.807619	0.45757	T	0.099418774	0.23461	0.14134547	0.33663	0.099418774	0.23461	0.14134547	0.33662	-5.982	0.46129	T	.	.	0.277	0.55978	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.874893	0.56279	23.7	0.99901381478775919	0.97275	0.81116	0.40589	D	AEFBI	0.552018	0.56385	D	0.200269356718837	0.51213	3.304329	0.159813795275605	0.47663	2.993256	5.52880233240213E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.58	0.56077	2.648000	0.46313	1.650000	0.27840	0.599000	0.40250	0.999000	0.42656	0.899000	0.27943	0.201000	0.21925	0.0:0.9093:0.0:0.0907	10.640	0.44778	291	0.88420	Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain;Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1405.33	33	chr3	108353673	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1266;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.13;SOR=0.925	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1379	18	0	1	0
chr3	108394107	108394107	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon37:c.G5243A:p.R1748Q	.	419	1090	13	0	0	13	0.00592795	.	.	.	697740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	0.0053	0.00379393	0.0085	0.0011	0.0027	0.0001	0.0224	0.0101	0.0122	0.0090	0.0079947	1236	154602	rs56118396	0.0073	0.0073	0.0072	0.0075	0.0103	0.0072	0.0072	0.0098	0.0095	0.0013	0.0021	0.0005	0.0001	0.0194	0.0031	0.0074	0.0062	0.0103	0.0062	0.0062	0.0058	0.0066	0.0086	0.0059	0.0057	0.0081	0.0078	0.0013	0.0143	0.0019	0.0009	0.0004	0.0199	0	0.0086	0.0024	0.0081	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	-1.07	0.76948	T	2.16	0.00339	N	0.114	0.10198	-0.9384	0.42869	T	0.080	0.31795	T	9	0.004033953	0.00078	T	.	.	.	0.121	0.33580	.	.	0.260735089382	0.25697	0.04463529659902546	0.04407	0.0932311091372	0.10534	0.183556064963	0.00131	T	0.040009	0.25382	T	-0.602125	0.00142	T	-0.628292	0.10545	T	0.000304934806533025	0.00002	T	0.121088	0.00938	T	0.018657751	0.00388	0.042751234	0.05162	0.018657751	0.00388	0.042751234	0.05161	-0.025	0.00358	T	.	.	0.066	0.02091	B	.	.	-0.497752	0.01874	0.153	0.39174246166261367	0.02687	0.01390	0.04723	N	AEFBI	0.058089	0.10871	N	-1.88771121008546	0.00364	0.0156342	-1.79436086791697	0.00777	0.03467481	0.00152812571980073	0.08613	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	-3.55	0.04343	-0.016000	0.12550	-1.472000	0.05362	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.609000	0.31615	0.1173:0.4811:0.0:0.4016	7.693	0.27745	316	0.87161	Myosin tail	.	.	.	.	rs56118396	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.005051	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	540.33	35	chr3	108394107	.	C	T	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=675;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.96;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr3	108398714	108398714	G	A	exonic	MYH15	.	stopgain	MYH15:NM_014981:exon36:c.C5116T:p.Q1706X	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	2.484e-05	0	0	0	0	1.498e-05	0	0.0001	1.94e-05	3	154602	rs369988310	3.215e-05	3.215e-05	2.314e-05	4.125e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	7.194e-06	9.935e-05	0.0003	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.217	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391691	0.89427	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.313415	0.96385	36	0.99425631440897744	0.63984	0.95230	0.63920	D	AEFBI	0.096197	0.19423	N	0.502281161466001	0.67225	5.053306	0.19479820684601	0.49560	3.157842	0.00646219642633201	0.11224	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	1.56	0.22423	4.727000	0.61687	1.388000	0.26092	0.676000	0.76740	1.000000	0.71638	0.043000	0.21642	0.063000	0.16184	0.193:0.0:0.6859:0.1211	7.261	0.25379	321	0.86949	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	36	chr3	108398714	.	G	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.265;DP=712;ExcessHet=0;FS=5.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.187;SOR=0.414	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	18	0	1	0
chr3	108554425	108554425	T	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon18:c.A2275G:p.I759V	.	561	935	21	5	0	31	0.0163072	.	.	.	2827615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0079	0.00678914	0.0151	0.0016	0.0152	0	0.0157	0.0210	0.0142	0.0136	0.0090684	1402	154602	rs13071874	0.0093	0.0098	0.0090	0.0095	0.0282	0.0092	0.0091	0.0245	0.0231	0.0012	0.0082	0.0216	2.558e-05	0.0118	0.0282	0.0092	0.0097	0.0113	0.0085	0.0085	0.0084	0.0086	0.0128	0.0081	0.0079	0.0108	0.0105	0.0016	0.0022	0.0103	0.0216	0	0.0107	0.0340	0.0114	0.0137	0.0128	0.671	0.04548	T	0.364	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.281368	0.963917	0.26004	N	1.61	0.41143	L	2.59	0.30133	T	-0.16	0.09460	N	0.051	0.03392	-1.0326	0.19618	T	0.031	0.13199	T	10	0.0028879046	0.00046	T	.	.	.	0.108	0.30607	.	.	0.409937222855	0.40610	0.04936724437716958	0.04879	0.123356630989	0.13895	0.384122222662	0.22839	T	0.003201	0.08027	T	-0.639528	0.00084	T	-0.678441	0.07079	T	0.00574206013498265	0.00063	T	0.733327	0.34901	T	0.028787773	0.02270	0.03298957	0.02120	0.028787773	0.02270	0.03298957	0.02120	-3.583	0.20700	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.728230	0.21999	15.44	0.97090227063027923	0.32319	0.68082	0.33669	D	AEFDBIJ	0.104944	0.20982	N	-0.194218152139997	0.33375	1.892736	-0.0284053599549227	0.38438	2.264582	0.999996611189207	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.567339	0.31927	0	.	.	5.15	5.15	0.70287	0.574000	0.23416	4.238000	0.42691	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.1488:0.1508:0.7004	5.505	0.16139	774	0.48577	.;.;.	.	.	.	.	rs13071874	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019657	0.005102	0.027174	0.008772	0.000000	0.034483	0.012195	0.037879	0.05263	1578.83	34	chr3	108554425	.	T	C	1578.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=731;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.165;SOR=0.703	GT:AD:DP:GQ:PL	0/1:36,34:70:99:732,0,888	17	0	2	0
chr3	108633032	108633032	G	A	exonic	DZIP3	.	nonsynonymous SNV	DZIP3:NM_014648:exon9:c.G776A:p.R259Q	.	.	.	.	.	.	.	.	.	.	.	3431316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0243717534182	7.7e-05	0.000399361	0.0002	0	0	0	0	9.013e-05	0	0.0012	0.0001876	29	154602	rs201597941	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	6.784e-05	3.017e-05	0	0	0	0.0002	0.0002	0.0003	0.0007	7.904e-05	7.877e-05	0.0001	4.042e-05	0.0002	4.507e-05	3.52e-05	7.921e-05	6.003e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.082	0.33254	T	0.0	0.92824	D	0.996	0.68779	D	0.591	0.50479	P	0.001203	0.39820	N	0.000000	0.730061	0.29838	N	0.695	0.17993	N	0.84	0.47477	T	-0.52	0.19933	N	0.587	0.60749	-0.9968	0.30810	T	0.102	0.37618	T	10	0.035321593	0.01776	T	0.024372	0.47357	T	0.111	0.31313	.	.	0.647389606501	0.64446	0.38536747165432234	0.38451	0.274934000933	0.29976	0.511389613152	0.40416	T	0.036363	0.29359	T	-0.349812	0.04739	T	-0.353245	0.38832	T	0.221993193030357	0.21563	T	0.891311	0.62583	D	0.09772749	0.23040	0.066096	0.13489	0.09772749	0.23040	0.066096	0.13489	-3.003	0.10213	T	.	.	0.439	0.61669	A	.;.;.	.;.;.	4.474707	0.69757	25.4	0.99946948472894992	0.99913	0.85673	0.44831	D	AEFBI	0.474022	0.51846	N	0.293753230408805	0.55830	3.747254	0.34475955802971	0.58193	3.988399	0.69487161490405	0.22630	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.39	4.39	0.52211	4.228000	0.58419	11.355000	0.92579	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.304	0.54212	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	33	chr3	108633032	.	G	A	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-0.211;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr3	108634899	108634899	G	A	exonic	DZIP3	.	nonsynonymous SNV	DZIP3:NM_014648:exon10:c.G845A:p.S282N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00402358911509	.	0.00159744	0.0007	0	0	0	0	0	0	0.0051	0.000608	94	154602	rs200630414	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0032	3.01e-05	2.266e-05	0	2.547e-05	0	0	2.705e-06	0.0001	0.0037	0.0001	0.0001	5.149e-05	0.0002	0.0037	7.585e-05	6.289e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.299	0.17183	T	0.589	0.38596	T	0.0	0.02946	B	0.0	0.06944	B	0.002564	0.36316	N	0.196016	0.946689	0.26623	N	0.345	0.11182	N	0.89	0.45636	T	0.05	0.09965	N	0.238	0.31253	-1.0690	0.09634	T	0.042	0.17994	T	10	0.007355958	0.00167	T	0.004024	0.09556	T	0.024	0.04979	0.28	0.23483	0.281780670237	0.27795	0.10852380762602983	0.10781	0.0802949593895	0.09039	0.519406676292	0.41543	T	0.027895	0.25016	T	-0.588067	0.00172	T	-0.617091	0.11413	T	0.0355978573040198	0.02911	T	0.59614	0.22137	T	0.04346074	0.06778	0.044223413	0.05680	0.04346074	0.06778	0.044223413	0.05679	-3.118	0.11504	T	.	.	0.075	0.07841	B	.;.;.	.;.;.	1.865908	0.23701	16.12	0.58196119817632408	0.05938	0.40628	0.26479	N	AEFBI	0.067690	0.13319	N	-0.797454381760893	0.13376	0.6585095	-0.592917984516219	0.19676	1.056784	0.00477360487119593	0.10707	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.08	2.08	0.26079	0.573000	0.23401	4.146000	0.42119	-0.144000	0.12334	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.2101:0.0:0.5927:0.1972	3.600	0.07566	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	35	chr3	108634899	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.199;DP=714;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.853;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr3	108853774	108853774	T	C	exonic	TRAT1	.	nonsynonymous SNV	TRAT1:NM_001317747:exon5:c.T347C:p.V116A,TRAT1:NM_016388:exon6:c.T458C:p.V153A	.	.	.	.	.	.	.	.	.	.	.	3617406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00488508948831	.	.	8.239e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs775809636	3.42e-06	3.42e-06	6.806e-06	0	0.0001	1e-06	7.3e-07	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	0	0	0	5.257e-05	5.253e-05	7.709e-05	2.691e-05	0.0002	2.557e-05	1.83e-05	9.569e-05	6.965e-05	0.0002	0	0	0	0	0	0	0	0	0	0.28	0.16683	T	0.4	0.15059	T	0.015	0.20876	B	0.016	0.20255	B	0.100825	0.19867	N	0.467182	1	0.08975	N	1.15	0.29295	L	1.33	0.35031	T	-2.16	0.48850	N	0.077	0.12198	-1.0465	0.15389	T	0.070	0.28740	T	10	0.07010335	0.10152	T	0.004885	0.12255	T	0.021	0.04004	0.217	0.13788	0.203808441222	0.19973	0.11508379137400579	0.11436	0.0422848965363	0.04555	0.3765630126	0.21767	T	0.463873	0.79965	T	-0.345104	0.05042	T	-0.551966	0.17138	T	0.0674939525320538	0.08295	T	0.392161	0.09760	T	0.06633625	0.14263	0.06367928	0.12650	0.06633625	0.14262	0.06367928	0.12650	-2.93	0.09446	T	.	.	0.094	0.14523	B	.;.	.;.	1.208830	0.16017	12.26	0.96194993196845202	0.29004	0.06291	0.12284	N	AEFI	0.078493	0.15837	N	-0.735270541006857	0.15036	0.7542575	-0.754359853945931	0.15616	0.8221388	3.09260678413671E-4	0.06454	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	5.33	2.9	0.32809	0.684000	0.25043	-0.414000	0.09328	0.665000	0.62972	0.029000	0.20367	0.000000	0.08366	0.007000	0.07825	0.0:0.1816:0.0:0.8184	7.022	0.24097	672	0.60758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	34	chr3	108853774	.	T	C	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=758;ExcessHet=0;FS=3.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.891;SOR=1.022	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1501,0,1943	18	0	1	0
chr3	111884471	111884471	A	G	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_001134438:exon2:c.A394G:p.T132A,PHLDB2:NM_001134439:exon2:c.A394G:p.T132A,PHLDB2:NM_145753:exon2:c.A394G:p.T132A,PHLDB2:NM_001134437:exon3:c.A475G:p.T159A	.	.	.	.	.	.	.	.	.	.	.	2759056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00737115204262	.	.	1.65e-05	0	8.64e-05	0	0	0	0	6.061e-05	1.29e-05	2	154602	rs758062645	3.968e-05	3.967e-05	3.675e-05	4.263e-05	0.0002	3.113e-05	2.846e-05	0.0001	0.0001	0	0.0001	0	0	3.744e-05	0	2.698e-05	3.311e-05	0.0002	3.283e-05	3.281e-05	0	6.714e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.634	0.11406	T	0.764	0.10572	T	0.0	0.11197	B	0.001	0.08700	B	0.198453	0.16662	N	0.605788	1	0.08975	N	0.915	0.23335	L	1.62	0.28189	T	-0.63	0.18459	N	0.126	0.11912	-1.0379	0.17954	T	0.020	0.08453	T	10	0.017507672	0.00374	T	0.007371	0.19550	T	0.011	0.01250	0.199	0.11247	0.213573922156	0.20996	0.2640916998863036	0.26322	0.0894054983916	0.10103	0.3739541471	0.21397	T	0.003975	0.06883	T	-0.470069	0.00849	T	-0.638699	0.09764	T	0.0147420784710852	0.00308	T	0.661834	0.27067	T	0.018174404	0.00338	0.020063557	0.00117	0.018174404	0.00338	0.020063557	0.00117	-3.328	0.14100	T	.	.	0.071	0.03925	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.294396	0.00443	0.009	0.49767003981163399	0.04267	0.04829	0.10556	N	AEFBCI	0.049654	0.08600	N	-1.70333076568256	0.00830	0.03589404	-1.70613725292476	0.01111	0.04991066	0.999904668350359	0.45458	0.706548	0.73137	0	0.59043	0.45803	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.24	-6.21	0.01887	-0.227000	0.09131	0.018000	0.13546	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.198:0.3661:0.0781:0.3579	2.421	0.04178	587	0.69154	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1428.33	35	chr3	111884471	.	A	G	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=759;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-2.144;SOR=0.863	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1442,0,1740	18	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	10708.3	35	chr3	111885119	.	TCCTGTG	T	10708.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.892;DP=1198;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.653;SOR=0.697	GT:AD:DP:GQ:PL	0/1:74,54:128:99:2037,0,2944	14	0	5	0
chr3	111967711	111967711	G	A	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_145753:exon14:c.G3073A:p.E1025K,PHLDB2:NM_001134437:exon15:c.G3154A:p.E1052K,PHLDB2:NM_001134438:exon15:c.G3202A:p.E1068K,PHLDB2:NM_001134439:exon15:c.G3202A:p.E1068K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0506497223554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.982	0.77487	D	0.000001	0.62929	D	0.056319	1	0.81001	D	2.79	0.81396	M	0.51	0.55439	T	-3.59	0.70067	D	0.413	0.58458	-0.3725	0.72885	T	0.359	0.72147	T	10	0.45332956	0.58835	T	0.05065	0.64333	D	0.284	0.60219	0.213	0.13210	0.807217496071	0.80541	0.5369428931450627	0.53619	0.351707542515	0.37009	0.670667409897	0.62933	T	0.192499	0.61553	T	0.0682055	0.60630	T	-0.139804	0.60135	T	0.994358956813812	0.85594	D	0.941906	0.90967	D	0.5974969	0.72556	0.4405093	0.67367	0.5974969	0.72557	0.4405093	0.67368	-13.992	0.93786	D	.	.	0.532	0.76533	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.644178	0.92763	33	0.99937172762660531	0.99661	0.98083	0.79454	D	AEFGBHCIJ	0.940346	0.94217	D	0.905977567810262	0.92049	11.20566	0.890517791386103	0.95147	13.35266	1.0	0.98316	0.730579	0.87903	0	0.688826	0.66785	0	0.650271	0.49498	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	9.179000	0.93989	11.874000	0.98652	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.693	0.91550	580	0.69689	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	606.33	44	chr3	111967711	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.09;DP=723;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-2.021;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1092	18	0	1	0
chr3	111991537	111991537	G	C	exonic	ABHD10	.	nonsynonymous SNV	ABHD10:NM_018394:exon5:c.G737C:p.G246A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.0677710946143	.	.	2.471e-05	0	0	0	0	1.498e-05	0.0011	6.057e-05	1.94e-05	3	154602	rs764283828	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0001	4.96e-06	3.82e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.997	0.70673	D	0.942	0.67772	D	0.000000	0.84330	D	0.049329	1	0.81001	D	3.535	0.93119	H	-0.19	0.65931	T	-5.33	0.84601	D	0.766	0.76388	-0.0133	0.81979	T	0.484	0.80326	T	10	0.92542255	0.91891	D	0.067771	0.70262	D	0.701	0.89238	0.789	0.91142	0.918932036857	0.91811	0.8904646685795368	0.89016	0.668106992026	0.59278	0.546248674393	0.45327	T	0.101005	0.40734	T	0.220924	0.75864	D	0.282219	0.87242	D	0.939499497413635	0.61100	D	0.925008	0.72455	D	0.70747375	0.78469	0.67825055	0.81101	0.70747375	0.78470	0.67825055	0.81102	-8.297	0.63075	D	.	.	0.535	0.66155	A	.	.	4.909695	0.80764	27.4	0.99843256463361774	0.92316	0.99388	0.95384	D	AEFGBI	0.927805	0.91105	D	0.939921391153297	0.93574	12.13005	0.907351619291369	0.95885	14.07002	0.999999999942758	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.516000	0.97042	11.872000	0.98601	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.591	0.91167	585	0.69300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2780.33	41	chr3	111991537	.	G	C	2780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=1081;ExcessHet=0;FS=0.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.334;SOR=0.766	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr3	112057059	112057059	T	C	exonic	TMPRSS7	.	nonsynonymous SNV	TMPRSS7:NM_001042575:exon8:c.T860C:p.F287S,TMPRSS7:NM_001366279:exon8:c.T827C:p.F276S	.	428	1066	25	3	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	0.0064	0.00459265	0.0065	0.0016	0.0050	0.0001	0.0008	0.0072	0.0101	0.0128	0.0064682	1000	154602	rs141142047	0.0066	0.0067	0.0065	0.0068	0.0170	0.0065	0.0065	0.0143	0.0133	0.0013	0.0069	0.0089	2.521e-05	0.0011	0.0170	0.0068	0.0080	0.0104	0.0054	0.0054	0.0054	0.0054	0.0091	0.0051	0.0050	0.0079	0.0074	0.0015	0	0.0091	0.0109	0	0.0012	0.0068	0.0074	0.0099	0.0089	0.001	0.78490	D	0.028	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999956	0.52396	D	2.495	0.72670	M	0.72	0.50976	T	-6.25	0.90568	D	0.909	0.91047	-0.6506	0.62688	T	0.204	0.56114	T	10	0.021408916	0.00512	T	.	.	.	0.521	0.79643	.	.	0.779737604534	0.77770	0.8576990534865051	0.85732	0.551012216591	0.51955	0.687632322311	0.65365	T	0.113788	0.43110	T	-0.0652983	0.42074	T	0.143815	0.79792	D	0.025992948649218	0.01405	T	0.837416	0.50983	T	0.8668933	0.88617	0.85431194	0.91794	0.8668933	0.88619	0.85431194	0.91794	-12.842	0.88888	D	.	.	0.986	0.92404	P	.;.;.	.;.;.	4.827556	0.78691	26.9	0.99902571316446365	0.97426	0.95205	0.63827	D	AEFBI	0.729572	0.67724	D	0.740764466384371	0.82301	7.729235	0.745601846988102	0.85829	8.698615	0.999994077417377	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	6.101000	0.71131	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.096	0.64551	712	0.56465	CUB domain|CUB domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.010101	0.010870	0.008772	0.050000	0.034483	0.027439	0.022727	0.02632	1129.33	33	chr3	112057059	.	T	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.546;DP=707;ExcessHet=0;FS=2.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.54;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	18	0	1	0
chr3	112109565	112109565	C	T	exonic	C3orf52	.	nonsynonymous SNV	C3orf52:NM_024616:exon4:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0280553630877	.	.	3.644e-05	0	0	0	0.0003	3.272e-05	0	0	3.23e-05	5	154602	rs761711287	3.174e-05	3.763e-05	4.123e-05	2.218e-05	0.0002	2.433e-05	2.176e-05	1.932e-05	1.677e-05	0	0	0	0	0.0002	0.0002	2.725e-05	3.335e-05	1.169e-05	8.542e-05	8.532e-05	7.712e-05	9.409e-05	0.0001	4.957e-05	3.962e-05	6.804e-05	5.088e-05	2.409e-05	0	0	0	0	0.0003	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.22	0.59851	T	-5.11	0.83092	D	0.788	0.78451	-0.2684	0.75855	T	0.368	0.72818	T	10	0.6387961	0.68936	D	0.028055	0.50789	D	0.270	0.58507	0.237	0.16760	0.481468437379	0.47776	.	.	.	.	.	.	.	.	.	.	-0.0381763	0.46219	T	0.025459	0.71984	D	0.449752628803253	0.30788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.62989	A	.	.	4.767003	0.77135	26.6	0.99873374442155094	0.95076	0.78351	0.38643	D	AEFDGBHI	0.346039	0.44099	N	0.497923456323009	0.66967	5.019434	0.381460410834515	0.60420	4.229635	0.999999998417873	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	3.958000	0.56444	7.527000	0.59855	0.580000	0.29708	0.909000	0.31653	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	14.133	0.64801	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1471.33	116	chr3	112109565	.	C	T	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=1623;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.025;SOR=0.512	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	18	0	1	0
chr3	112169290	112169290	A	T	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon23:c.T2814A:p.F938L,SLC9C1:NM_183061:exon24:c.T2958A:p.F986L	.	435	1084	3	0	0	3	0.00138185	.	.	.	697750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	.	0.0047	0.00359425	0.0064	0.0012	0.0017	0	0.0059	0.0093	0.0089	0.0046	0.0064941	1004	154602	rs144423530	0.0077	0.0077	0.0077	0.0078	0.0089	0.0076	0.0076	0.0088	0.0087	0.0006	0.0035	0.0016	0	0.0076	0.0017	0.0089	0.0057	0.0048	0.0061	0.0061	0.0060	0.0063	0.0098	0.0058	0.0057	0.0092	0.0090	0.0012	0.0033	0.0072	0.0014	0.0004	0.0067	0	0.0098	0.0038	0.0039	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000211	0.47681	N	0.093937	0.999951	0.19072	N	1.52	0.38360	L	-2.88	0.91533	D	-4.91	0.83557	D	0.694	0.69913	-0.0293	0.81645	T	0.674	0.88696	D	10	0.015887707	0.00334	T	.	.	.	0.432	0.73807	0.679	0.81691	0.589131389434	0.58588	0.4557867718362405	0.45496	0.386311765763	0.39923	0.53951561451	0.44377	T	0.53721	0.84089	D	-0.255318	0.13454	T	-0.127846	0.61154	T	0.0535679611152521	0.06117	T	.	.	.	0.38036737	0.59343	0.32286474	0.58223	0.38036737	0.59344	0.32286474	0.58222	-5.903	0.46028	T	.	.	0.742	0.76179	P	.;.	.;.	2.936961	0.39040	20.9	0.98761635769132106	0.45816	0.72887	0.35662	D	AEFI	0.479784	0.52178	N	-0.147937583161936	0.35323	2.027414	-0.232042399387118	0.30396	1.711011	4.39839553939223E-4	0.06970	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.83	3.39	0.37919	4.949000	0.63298	3.636000	0.39331	-0.118000	0.14412	0.998000	0.41325	0.993000	0.31925	0.094000	0.17991	0.6796:0.3204:0.0:0.0	10.268	0.42646	830	0.39242	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	2437.81	33	chr3	112169290	.	A	T	2437.81	.	AC=2;AF=0.053;AN=38;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.94;SOR=1.739	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	1	0	0
chr3	112349838	112349838	T	A	exonic	CD200	.	nonsynonymous SNV	CD200:NM_001365851:exon5:c.T821A:p.V274D	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.000998403	0.0030	0.0009	0.0011	0	0.0005	0.0041	0.0023	0.0034	0.0029172	451	154602	rs141526201	0.0043	0.0043	0.0044	0.0043	0.0057	0.0042	0.0042	0.0049	0.0049	0.0013	0.0009	0.0014	5.104e-05	0.0009	0.0057	0.0050	0.0035	0.0030	0.0026	0.0026	0.0030	0.0022	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0.0011	0.0018	0.0014	0	0.0005	0	0.0045	0.0019	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1395.33	35	chr3	112349838	.	T	A	1395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.425;DP=740;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.382;SOR=0.51	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	112995145	112995145	A	G	exonic	GTPBP8	.	nonsynonymous SNV	GTPBP8:NM_138485:exon2:c.A347G:p.K116R,GTPBP8:NM_014170:exon3:c.A446G:p.K149R	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00772538363916	0.0028	0.00159744	0.0043	0.0008	0.0016	0	0.0039	0.0067	0.0011	0.0011	0.0042237	653	154602	rs148441248	0.0038	0.0039	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0018	3.899e-05	0	0.0035	0.0016	0.0044	0.0037	0.0012	0.0032	0.0032	0.0034	0.0030	0.0047	0.0030	0.0029	0.0043	0.0042	0.0009	0.0230	0.0038	0	0	0.0034	0	0.0047	0.0043	0.0004	0.099	0.53172	T	0.207	0.34837	T	0.1	0.34593	B	0.107	0.38902	B	0.104350	0.19707	N	0.552717	0.838986	0.81001	D	0.05	0.08135	N	2.69	0.41392	T	-1.58	0.38151	N	0.368	0.47949	-1.0815	0.07060	T	0.055	0.23186	T	10	0.008291602	0.00188	T	0.007725	0.20483	T	0.068	0.19811	.	.	0.0551355673512	0.04727	0.5830510845061457	0.58234	0.106196479679	0.12011	0.562918543816	0.47679	T	0.007539	0.15507	T	-0.28076	0.10587	T	-0.170941	0.57356	T	0.0345167606473334	0.02725	T	0.918208	0.70605	D	0.07598313	0.17156	0.08414591	0.19334	0.07598313	0.17156	0.08414591	0.19334	-8.501	0.64436	D	.	.	0.109	0.20857	B	.;.;.;.	.;.;.;.	3.601940	0.50884	23.0	0.99865718969210548	0.94366	0.94828	0.62470	D	AEFBI	0.564716	0.57139	D	-0.0524318513382396	0.39495	2.32991	0.120097556906409	0.45577	2.818491	0.999998337406157	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.72	4.57	0.55860	5.935000	0.69862	9.350000	0.80289	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9233:0.0:0.0767:0.0	10.555	0.44299	455	0.79073	GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;.;GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;GTP binding domain|EngB-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	1521.83	33	chr3	112995145	.	A	G	1521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.449;DP=763;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.506;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	17	0	2	0
chr3	113279968	113279968	A	G	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon13:c.A2168G:p.D723G,BOC:NM_001378073:exon13:c.A2168G:p.D723G,BOC:NM_001378074:exon13:c.A2168G:p.D723G,BOC:NM_001378075:exon13:c.A2165G:p.D722G,BOC:NM_033254:exon13:c.A2165G:p.D722G	.	.	.	.	.	.	.	.	.	.	.	2369691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0305066140432	0.0005	.	9.237e-05	0	0	0	0	0.0002	0	6.537e-05	9.06e-05	14	154602	rs202019169	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	8.971e-05	4.486e-05	0	0	3.755e-05	0	0.0003	0.0003	3.484e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.751e-05	8.264e-05	0.0002	0.0002	2.415e-05	0	6.547e-05	0	0	0	0	0.0003	0	0	0.007	0.59928	D	0.005	0.72224	D	0.987	0.61912	D	0.939	0.67449	D	0.000061	0.53742	D	0.164920	0.999996	0.58761	D	1.59	0.40313	L	0.38	0.57575	T	-3.9	0.72932	D	0.655	0.66529	-0.8141	0.54300	T	0.235	0.60173	T	10	0.56302756	0.64895	D	0.030507	0.52803	D	0.379	0.69696	.	.	0.837931633645	0.83639	0.6218958125947293	0.62122	0.816700282092	0.66967	0.608588218689	0.54115	T	0.480775	0.80962	T	-0.0908259	0.37940	T	-0.131573	0.60839	T	0.417275995016098	0.29590	T	0.922708	0.71908	D	0.7092764	0.78568	0.5404906	0.73443	0.7092764	0.78569	0.5404906	0.73444	-9.345	0.69959	D	.	.	0.705	0.73161	P	.;.;.	.;.;.	4.369789	0.67261	25.1	0.99758621096674738	0.84851	0.97885	0.77862	D	AEFDBHCI	0.881519	0.80896	D	0.35043465186598	0.58761	4.050578	0.330861768495641	0.57359	3.901561	0.999999999999077	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.177118	0.04338	0	0.542086	0.14980	0	.	.	5.53	5.53	0.82530	8.697000	0.91034	11.281000	0.91737	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	1.0:0.0:0.0:0.0	15.648	0.76822	555	0.71762	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1640.33	35	chr3	113279968	.	A	G	1640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.504;DP=776;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.867;SOR=0.938	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr3	113326478	113326478	G	A	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon28:c.C4483T:p.R1495W	.	443	1073	6	0	0	6	0.0027881	.	.	.	708471	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.168	.	0.0096	0.00599042	0.0052	0.0244	0.0032	0	0	0.0055	0	0.0014	0.0015459	239	154602	rs58191991	0.0040	0.0038	0.0041	0.0039	0.0236	0.0039	0.0039	0.0222	0.0216	0.0236	0.0033	0.0024	0.0002	0.0018	0.0118	0.0038	0.0051	0.0013	0.0087	0.0087	0.0087	0.0087	0.0214	0.0083	0.0081	0.0203	0.0198	0.0214	0	0.0066	0.0026	0	0.0009	0.0170	0.0042	0.0076	0.0015	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.000063	0.52346	D	0.128211	0.520857	0.31570	N	.	.	.	0.87	0.46412	T	-3.84	0.72240	D	0.222	0.24883	-0.8335	0.53074	T	0.117	0.41297	T	10	0.0041759014	0.00083	T	.	.	.	0.168	0.42943	.	.	0.42324137094	0.41940	0.2361723734705648	0.23532	0.248791913693	0.27447	0.492648363113	0.37806	T	.	.	.	-0.451679	0.01104	T	-0.405325	0.32764	T	0.024550257594143	0.01215	T	0.89781	0.64256	D	0.28719503	0.51731	0.21179019	0.45622	0.28719503	0.51731	0.21179019	0.45621	-9.976	0.73768	D	.	.	0.441	0.61730	A	.	.	3.670169	0.52182	23.2	0.99920535513453057	0.98721	0.41382	0.26645	N	AEFBI	0.308458	0.41504	N	0.0191386978474371	0.42725	2.579787	-0.0244139690839011	0.38615	2.27761	0.0463244745015267	0.14686	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.2	4.3	0.50540	1.822000	0.38690	3.679000	0.39461	-0.154000	0.11915	0.212000	0.24446	1.000000	0.68203	0.398000	0.26737	0.0836:0.0:0.7554:0.161	8.910	0.34705	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021040	0.005319	0.035088	0.039130	0.000000	0.038462	0.000000	0.027027	0.02632	634.33	35	chr3	113326478	.	G	A	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.429;DP=736;ExcessHet=0;FS=4.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.921;SOR=0.307	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr3	113445346	113445346	A	T	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon18:c.T2529A:p.N843K,SPICE1:NM_001331079:exon18:c.T2571A:p.N857K,SPICE1:NM_144718:exon18:c.T2529A:p.N843K	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0059	0.00379393	0.0015	0.0171	0.0004	0	0	7.573e-05	0.0011	0	0.0013971	216	154602	rs58193594	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0008	3.833e-05	0	0	0.0010	2.16e-05	0.0015	3.485e-05	0.0049	0.0049	0.0048	0.0050	0.0171	0.0046	0.0045	0.0161	0.0157	0.0171	0	0.0017	0	0	0	0	5.882e-05	0.0028	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.027	0.21085	B	0.000675	0.42516	D	0.235755	0.883657	0.28005	N	1.24	0.30952	L	1.72	0.26588	T	0.71	0.02130	N	0.157	0.16308	-1.0022	0.29284	T	0.014	0.05369	T	10	0.0048015714	0.00102	T	.	.	.	0.037	0.09474	0.254	0.19378	0.16115917748	0.15686	0.06939992689784065	0.06877	0.107562860731	0.12137	0.597671151161	0.52576	T	0.001105	0.00619	T	-0.648244	0.00074	T	-0.689654	0.06409	T	0.00731825224196647	0.00084	T	0.642236	0.25428	T	0.028683865	0.02245	0.02848957	0.01090	0.028683865	0.02244	0.02848957	0.01090	-2.737	0.07619	T	.	.	0.14	0.30686	B	.	.	0.736367	0.11056	7.710	0.77576701534733394	0.11934	0.48106	0.28132	N	AEFGBI	0.079256	0.16006	N	-0.610629007612493	0.18625	0.9684189	-0.466138427739817	0.23093	1.257587	2.62888508910871E-4	0.06244	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	-0.143	0.12787	0.778000	0.26393	-0.135000	0.11577	-0.093000	0.16093	0.999000	0.42656	0.005000	0.19230	0.840000	0.39645	0.5352:0.0:0.2685:0.1963	3.398	0.06889	196	0.92420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000514	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1377.33	34	chr3	113445346	.	A	T	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=797;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.108;SOR=0.92	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1348	18	0	1	0
chr3	113604938	113604938	G	A	exonic	SIDT1	.	nonsynonymous SNV	SIDT1:NM_001322296:exon12:c.G1180A:p.A394T,SIDT1:NM_001322295:exon13:c.G1282A:p.A428T,SIDT1:NM_001322297:exon13:c.G913A:p.A305T,SIDT1:NM_001322298:exon13:c.G823A:p.A275T,SIDT1:NM_001322300:exon13:c.G85A:p.A29T,SIDT1:NM_001308350:exon14:c.G1366A:p.A456T,SIDT1:NM_001322294:exon14:c.G1366A:p.A456T,SIDT1:NM_001322299:exon14:c.G625A:p.A209T,SIDT1:NM_017699:exon14:c.G1366A:p.A456T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0198736149308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61732220	1.573e-05	1.71e-05	2.45e-05	6.876e-06	1.978e-05	1.048e-05	8.75e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.15149	T	0.301	0.20293	T	0.638	0.40359	P	0.233	0.38358	B	0.000207	0.47681	D	0.090977	1	0.81001	D	1.7	0.43825	L	1.92	0.23082	T	-1.76	0.41618	N	0.756	0.75466	-1.1283	0.01865	T	0.073	0.29707	T	10	0.46264225	0.59379	T	0.019874	0.42339	T	0.210	0.50028	0.383	0.40134	0.19670166235	0.19296	0.48691926618123405	0.48611	0.415299196279	0.42189	0.779643476009	0.78874	T	0.04268	0.26261	T	-0.00635083	0.50775	T	-0.231413	0.51636	T	0.592169055780045	0.36091	D	0.948505	0.80194	D	0.05438607	0.10428	0.14314298	0.34029	0.05438607	0.10427	0.14314298	0.34028	-9.875	0.73196	D	.	.	0.115	0.22861	B	.;.	.;.	3.549740	0.49897	22.9	0.98740288698236856	0.45497	0.99316	0.94394	D	AEFDBI	0.893901	0.83232	D	0.342504737347378	0.58345	4.006176	0.422457802370167	0.62967	4.52143	0.999999999999794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	9.884000	0.98542	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	20.244	0.98395	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	33	chr3	113604938	.	G	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=755;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-1.041;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1318:.	18	0	1	0
chr3	113657825	113657825	G	A	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.C3857T:p.P1286L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0157043218704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.089	0.40426	T	.	.	.	.	.	.	0.000050	0.53742	D	0.134693	0.999224	0.81001	D	.	.	.	2.37	0.15964	T	-1.92	0.44657	N	0.202	0.24385	-1.1002	0.04067	T	0.035	0.15247	T	10	0.13978449	0.26574	T	0.015704	0.36577	T	0.088	0.25558	0.169	0.07419	0.043077524339	0.03247	0.23263094539280815	0.23178	0.405131685381	0.41401	0.353787481785	0.18479	T	.	.	.	-0.118803	0.33320	T	-0.408429	0.32407	T	0.938524067401886	0.60921	D	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.15430	B	.;.	.;.	3.302813	0.45351	22.1	0.99314432848241596	0.59129	0.99579	0.97647	D	AEFBI	0.633933	0.61399	D	0.127843494598187	0.47764	2.997681	0.194798764072788	0.49560	3.157842	0.922875872007368	0.26723	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.78	4.89	0.63387	6.776000	0.74817	11.933000	0.99945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.8654:0.1346	16.152	0.81445	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3447.33	87	chr3	113657825	.	G	A	3447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1394;ExcessHet=0;FS=5.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-1.115;SOR=0.762	GT:AD:DP:GQ:PL	0/1:101,122:223:99:3461,0,2509	18	0	1	0
chr3	114236396	114236396	A	T	exonic	ZNF80	.	nonsynonymous SNV	ZNF80:NM_007136:exon1:c.T679A:p.Y227N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00102636918161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.259	0.23097	T	0.008	0.14655	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.22	0.03977	N	3.19	0.07353	T	-0.25	0.11008	N	0.12	0.11054	-0.9392	0.42743	T	0.008	0.02842	T	9	0.031539798	0.01291	T	0.001026	0.01120	T	0.018	0.03083	0.24	0.17218	0.132336055621	0.12781	0.01500929834017997	0.01457	0.433043292513	0.43471	0.286775559187	0.08454	T	0.00353	0.02940	T	-0.375842	0.03309	T	-0.777647	0.02525	T	0.0865440948463593	0.10802	T	0.334967	0.07125	T	0.06284952	0.13171	0.058449436	0.10801	0.06284952	0.13171	0.058449436	0.10800	-4.236	0.27270	T	.	.	0.227	0.45906	B	.;.	.;.	0.492193	0.08614	5.383	0.84242186446358369	0.15178	0.00494	0.02336	N	AEFDBI	0.046264	0.07664	N	-1.22288377155059	0.04669	0.2112395	-1.23911309510458	0.05294	0.251908	0.0184579517394489	0.13060	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.22	-0.601	0.11054	-1.098000	0.03456	-0.229000	0.10694	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.3876:0.1937:0.2301:0.1885	0.331	0.00297	838	0.37812	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1578.33	106	chr3	114236396	.	A	T	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.792;DP=1843;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.061;SOR=0.507	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.05263	5664.83	35	chr3	114350760	.	C	T	5664.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.48;DP=985;ExcessHet=0.119;FS=0.376;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.387;SOR=0.717	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr3	114380262	114380262	T	C	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon3:c.A154G:p.T52A,ZBTB20:NM_001348800:exon10:c.A154G:p.T52A,ZBTB20:NM_001348803:exon12:c.A154G:p.T52A	Primrose syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	733700	not_specified|not_provided|ZBTB20-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0090	0.00738818	0.0028	0.0281	0.0033	0	0	0	0.0093	0	0.0007827	121	154602	rs72950611	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0006	0.0250	0.0244	0.0264	0.0011	3.973e-05	0	0	0.0009	9.269e-06	0.0011	3.787e-05	0.0073	0.0073	0.0075	0.0070	0.0254	0.0069	0.0068	0.0241	0.0236	0.0254	0	0.0024	0	0	0	0	0	0.0062	0.0004	0.02	0.49613	D	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.171312	0.17366	U	0.379291	1	0.81001	D	0	0.06538	N	3.1	0.08283	T	-0.25	0.11008	N	0.153	0.15749	-0.9567	0.39789	T	0.004	0.01365	T	10	0.0036848187	0.00068	T	.	.	.	0.076	0.22200	.	.	0.220282294035	0.21616	0.40076885888774166	0.39991	1.12507142131	0.78425	0.540225744247	0.44477	T	0.067597	0.33242	T	-0.602352	0.00141	T	-0.616384	0.11471	T	0.0200465232308112	0.00705	T	0.534647	0.17878	T	0.06364207	0.13422	0.06395894	0.12747	0.06875876	0.15006	0.06203821	0.12075	-3.309	0.13853	T	.	.	0.118	0.24123	B	.	.	1.718955	0.21882	15.39	0.96852974030653172	0.31350	0.66917	0.33246	D	ALL	0.084206	0.17064	N	-0.231077734935121	0.31865	1.791104	-0.00725712988480354	0.39385	2.334479	0.999999945043605	0.74766	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.67	4.5	0.54382	0.825000	0.27047	0.198000	0.15820	0.665000	0.62972	1.000000	0.71638	0.991000	0.31484	1.000000	0.97212	0.116:0.0721:0.1337:0.6781	4.312	0.10420	797	0.45241	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	962.33	33	chr3	114380262	.	T	C	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=708;ExcessHet=0;FS=2.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.199;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	90.93	76	chr3	115676196	.	G	C	90.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.197;DP=1627;ExcessHet=0.119;FS=169.168;InbreedingCoeff=-0.059;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.362;SOR=10.505	GT:AD:DP:GQ:PL	0/0:77,27:108:9:0,9,1433	17	0	2	0
chr3	119648196	119648196	A	G	exonic	POPDC2	.	nonsynonymous SNV	POPDC2:NM_001369919:exon3:c.T1073C:p.M358T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00119808	0.0064	0.0014	0.0097	0	0	0.0118	0.0057	0	0.0020504	317	154602	rs138545017	0.0040	0.0040	0.0041	0.0039	0.0049	0.0039	0.0039	0.0048	0.0047	0.0004	0.0035	0.0002	0	0.0006	0.0014	0.0049	0.0038	7.457e-05	0.0028	0.0028	0.0027	0.0029	0.0049	0.0026	0.0025	0.0044	0.0043	0.0007	0	0.0035	0	0	0.0003	0.0034	0.0049	0.0052	0	0.144	0.25255	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999788	0.81001	D	.	.	.	2.05	0.20664	T	-0.92	0.24676	N	0.455	0.49237	-0.9752	0.36082	T	0.115	0.40808	T	6	0.007886887	0.00179	T	.	.	.	0.086	0.25016	.	.	0.427139414373	0.42328	.	.	.	.	.	.	.	.	.	.	-0.554372	0.00274	T	-0.566759	0.15748	T	0.0131200195273093	0.00231	T	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.50979	B	.	.	2.938895	0.39066	20.9	0.9793162779351362	0.36964	0.94860	0.62581	D	AEFDBI	0.846959	0.76382	D	0.365225349419141	0.59547	4.135144	0.427588459050082	0.63288	4.559812	0.999999990941557	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	4.97	4.97	0.65419	5.681000	0.67839	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.820	0.69696	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	44	chr3	119648196	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=802;ExcessHet=0;FS=6.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.257;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1575	18	0	1	0
chr3	120168200	120168200	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon10:c.C1265T:p.S422L,GPR156:NM_153002:exon10:c.C1277T:p.S426L	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00184518602031	7.7e-05	0.00119808	0.0004	0	8.687e-05	0.0044	0	0.0002	0	0.0001	0.0003946	61	154602	rs192562612	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0	0.0003	0.0004	0.0045	0	0.0009	9.504e-05	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0005	0.0012	0.0066	0	0	0.0002	0	0.0002	0.205	0.21467	T	0.413	0.14500	T	0.002	0.09854	B	0.001	0.04355	B	0.534371	0.05276	N	1.269050	1	0.08975	N	1.21	0.30464	L	1.97	0.22067	T	-1.12	0.28906	N	0.061	0.03283	-1.0065	0.28004	T	0.037	0.16160	T	9	0.0034298897	0.00060	T	0.001845	0.03193	T	0.054	0.15330	.	.	0.0138822411134	0.00435	0.1441040982240516	0.14333	0.215792106592	0.24110	0.287955611944	0.08625	T	0.004393	0.03798	T	-0.70283	0.00035	T	-0.782076	0.02391	T	0.0110768497971508	0.00161	T	0.734027	0.34984	T	0.04433273	0.07067	0.08232319	0.18780	0.04433273	0.07066	0.08232319	0.18779	-3.665	0.18891	T	.	.	0.075	0.07985	B	.;.;.	.;.;.	0.327952	0.07020	3.581	0.88552818389788257	0.18067	0.06109	0.12085	N	AEFBI	0.052031	0.09249	N	-1.28539860746547	0.03850	0.1727532	-1.41376498403213	0.03114	0.1446157	0.999997595174801	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.65	-6.57	0.01674	0.299000	0.18892	0.182000	0.15643	-0.244000	0.07312	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	0.7247:0.1056:0.1696:0.0	12.040	0.52742	760	0.50470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.02632	1470.33	43	chr3	120168200	.	G	A	1470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=849;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.164;SOR=0.709	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1484,0,954	18	0	1	0
chr3	120335948	120335948	T	C	exonic	LRRC58	.	nonsynonymous SNV	LRRC58:NM_001099678:exon2:c.A506G:p.E169G	.	.	.	.	.	.	.	.	.	.	.	2824844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.409	0.0770612567251	0.0049	0.00159744	0.0035	0.0018	0.0012	0	0.0024	0.0056	0.0075	6.594e-05	0.0032794	507	154602	rs140152656	0.0046	0.0048	0.0048	0.0044	0.0057	0.0045	0.0045	0.0055	0.0055	0.0007	0.0013	0.0003	0	0.0024	0.0002	0.0057	0.0037	4.768e-05	0.0031	0.0032	0.0034	0.0029	0.0056	0.0029	0.0028	0.0051	0.0050	0.0013	0	0.0011	0.0003	0	0.0021	0	0.0056	0.0019	0.0002	0.006	0.61437	D	0.083	0.41405	T	0.948	0.53620	P	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.92	0.51302	L	0.26	0.59314	T	-4.78	0.80510	D	0.84	0.83576	-0.5475	0.66881	T	0.244	0.61225	T	10	0.05185336	0.05129	T	0.077061	0.72681	D	0.409	0.72099	.	.	0.852457279734	0.85104	0.7024748587043665	0.70188	2.08303156752	0.94650	0.512126088142	0.40520	T	0.119172	0.44050	T	-0.0414089	0.45739	T	0.17414	0.81653	D	0.0322589908715296	0.02349	T	0.946905	0.79612	D	0.4775878	0.65754	0.41157064	0.65384	0.4775878	0.65755	0.41157064	0.65384	-6.358	0.49180	T	.	.	0.467	0.63023	A	.	.	4.872015	0.79818	27.2	0.99902879289048874	0.97426	0.97887	0.77878	D	AEFBI	0.779062	0.71137	D	0.638542219768947	0.75629	6.339894	0.629284189008744	0.77077	6.610283	0.999993081195845	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	5.32	0.75377	7.097000	0.76621	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	13.011	0.58139	781	0.47532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	759.33	36	chr3	120335948	.	T	C	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.78;DP=677;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.73;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr3	120781151	120781151	C	G	exonic	GTF2E1	.	nonsynonymous SNV	GTF2E1:NM_005513:exon5:c.C1001G:p.S334C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0188425813202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283384499	4.789e-06	4.788e-06	1.361e-06	8.251e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.984	0.60733	D	0.711	0.54536	P	0.000097	0.51296	D	0.171916	0.975131	0.39163	D	1.935	0.51832	L	0.81	0.48460	T	-1.91	0.44471	N	0.309	0.34874	-0.6941	0.60717	T	0.221	0.58447	T	10	0.32362658	0.49697	T	0.018843	0.41032	T	0.139	0.37390	0.309	0.28128	0.265735104816	0.26182	0.1274168819607243	0.12667	0.727438838198	0.62567	0.424802601337	0.28497	T	0.134669	0.46604	T	-0.171755	0.24968	T	-0.387636	0.34828	T	0.725161671638489	0.41961	D	0.690331	0.29972	T	0.16663258	0.37011	0.078439906	0.17569	0.16663258	0.37011	0.078439906	0.17569	-8.122	0.61899	D	.	.	0.111	0.21578	B	.	.	4.104713	0.61238	24.3	0.98536870089053197	0.42670	0.82546	0.41758	D	ALL	0.559365	0.56821	D	0.342621295570958	0.58351	4.006815	0.252968230714862	0.52819	3.454164	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.548927	0.17530	0	.	.	5.39	5.39	0.77615	2.156000	0.41936	7.639000	0.63104	0.599000	0.40250	0.838000	0.30254	1.000000	0.68203	0.072000	0.16771	0.0:1.0:0.0:0.0	18.317	0.90164	317	0.87119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2449.33	34	chr3	120781151	.	C	G	2449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=817;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.619;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	18	0	1	0
chr3	121418393	121418393	C	T	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348344:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348345:exon26:c.C3283T:p.P1095S,STXBP5L:NM_001348343:exon27:c.C3355T:p.P1119S,STXBP5L:NM_014980:exon27:c.C3355T:p.P1119S	.	426	1090	6	0	0	6	0.00274474	.	.	.	3216238	STXBP5L-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00424582178419	0.0006	0.00139776	0.0005	0.0018	0.0004	0	0	0.0004	0.0022	0.0005	0.0004463	69	154602	rs182836802	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0012	0.0005	0.0058	2.521e-05	0	0.0035	0.0002	0.0009	0.0005	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0011	0.0010	0.0014	0	0.0007	0.0046	0	0	0.0034	0.0002	0.0014	0.0010	0.073	0.35726	T	0.151	0.32355	T	0.0	0.02946	B	0.001	0.06944	B	0.000446	0.44317	D	0.201833	0.991206	0.41332	D	0.895	0.22405	L	1.8	0.25344	T	-3.66	0.76094	D	0.132	0.12770	-1.0779	0.07761	T	0.044	0.18865	T	10	0.010337204	0.00230	T	0.004246	0.10247	T	0.081	0.23632	.	.	0.123314135267	0.11883	0.16486506190231473	0.16406	0.182014968346	0.20459	0.457533031702	0.32972	T	0.168038	0.51489	T	-0.519462	0.00443	T	-0.549027	0.17420	T	0.0233895667714799	0.01070	T	0.943706	0.78720	D	0.11546322	0.27246	0.16180968	0.37619	0.11546322	0.27246	0.16180968	0.37618	-6.262	0.48421	T	.	.	0.070	0.05404	B	.;.;.	.;.;.	2.744068	0.35953	20.1	0.98396342357770816	0.41020	0.76372	0.37451	D	AEFHCI	0.295275	0.40543	N	-0.0857306988196388	0.38018	2.220332	0.0678047627661476	0.42941	2.606294	0.245095474104048	0.18616	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.35	4.36	0.51643	3.086000	0.49857	3.267000	0.37132	0.599000	0.40250	0.960000	0.33603	0.998000	0.33993	0.896000	0.43308	0.0:0.7829:0.0:0.2171	6.365	0.20656	133	0.94666	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1072.33	38	chr3	121418393	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=702;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=2.32;SOR=0.27	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	18	0	1	0
chr3	121440042	121440042	G	A	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon27:c.C7339T:p.R2447C	.	440	1077	5	0	0	5	0.00231589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.110129722111	.	.	5.779e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs773110058	2.26e-05	2.257e-05	1.227e-05	3.303e-05	0.0003	1.612e-05	1.418e-05	0.0002	0.0002	0	0	0	2.522e-05	0	0	7.203e-06	0	0.0003	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000030	0.55875	D	0.119263	0.993178	0.41858	D	4.085	0.97236	H	-4.54	0.97732	D	-6.46	0.91436	D	0.661	0.67045	1.104	0.99787	D	0.967	0.98948	D	10	0.83459514	0.82617	D	0.11013	0.78738	D	0.777	0.92542	0.81	0.92650	0.718980613371	0.71650	0.721810602941884	0.72125	0.209469143	0.23414	0.603937864304	0.53460	T	0.671907	0.90271	D	0.188924	0.72865	D	0.369859	0.91066	D	0.970004200935364	0.68793	D	0.941106	0.78031	D	0.8151864	0.84897	0.58790624	0.76096	0.8151864	0.84899	0.58790624	0.76097	-10.71	0.78044	D	0.7112415689620686	0.79150	0.226	0.45738	B	.;.	.;.	5.243188	0.88022	29.4	0.99912334705850192	0.98167	0.78787	0.38925	D	AEFBI	0.408829	0.48035	N	0.740459704708232	0.82283	7.724386	0.64715087689872	0.78398	6.868384	0.0236772614399562	0.13524	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	1.820000	0.38670	4.469000	0.43488	0.676000	0.76740	0.729000	0.28913	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.181	0.89712	153	0.93993	DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1287.33	113	chr3	121440042	.	G	A	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=730;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr3	121533037	121533037	A	C	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon6:c.T913G:p.S305A	.	426	1093	3	0	0	3	0.00137049	.	.	.	3210139	POLQ-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.084	0.0287951423964	0.0022	0.00159744	0.0016	0.0004	0.0007	0	0.0014	0.0026	0.0022	0.0004	0.0017982	278	154602	rs61757736	0.0027	0.0027	0.0028	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0006	0.0015	0	0	0.0016	0.0021	0.0032	0.0028	0.0002	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0018	0.0032	0.0031	0.0002	0.0088	0.0020	0	0	0.0012	0.0034	0.0036	0.0028	0.0006	0.235	0.18000	T	0.404	0.14818	T	0.069	0.23796	B	0.076	0.28435	B	0.154786	0.17851	N	0.629187	0.768435	0.29463	N	0.71	0.18616	N	-0.5	0.70480	T	-1.82	0.42763	N	0.458	0.49511	-0.8746	0.50181	T	0.176	0.52115	T	10	0.012671828	0.00271	T	0.028795	0.51417	D	0.084	0.24469	.	.	0.621764943585	0.61869	0.4122820358535492	0.41144	0.137002657953	0.15452	0.436821252108	0.30143	T	0.082176	0.36767	T	-0.367536	0.03721	T	-0.300861	0.44635	T	0.0147433689241096	0.00308	T	0.50325	0.15827	T	0.24800208	0.47783	0.15590806	0.36525	0.24800208	0.47783	0.15590806	0.36524	-5.885	0.45307	T	0.8201010947346068	0.89326	0.119	0.24430	B	.;.	.;.	2.941689	0.39111	20.9	0.98921917824416949	0.48583	0.94995	0.63057	D	AEFBI	0.229477	0.35299	N	-0.233693670461218	0.31759	1.784074	-0.0305461986709249	0.38341	2.257606	0.141890274065905	0.17288	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.29	4.05	0.46415	3.383000	0.52206	8.980000	0.78490	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7415:0.2585:0.0:0.0	11.742	0.51064	271	0.89373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.020202	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	936.33	33	chr3	121533037	.	A	C	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.902;DP=745;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.455;SOR=0.884	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr3	121586134	121586134	C	T	exonic	ARGFX	.	nonsynonymous SNV	ARGFX:NM_001012659:exon5:c.C482T:p.T161I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0267640429904	0.0028	0.000599042	0.0019	0.0010	0.0003	0	0.0005	0.0031	0	0.0002	0.0022315	345	154602	rs146404354	0.0042	0.0042	0.0045	0.0039	0.0052	0.0041	0.0040	0.0051	0.0050	0.0005	0.0007	0	0	0.0003	0.0005	0.0052	0.0038	0.0001	0.0024	0.0024	0.0028	0.0019	0.0043	0.0022	0.0021	0.0039	0.0038	0.0008	0	0.0014	0	0	0.0008	0	0.0043	0.0009	0.0002	0.022	0.48642	D	0.026	0.55759	D	0.005	0.12996	B	0.001	0.04355	B	0.002443	0.00888	N	3.135170	1	0.08975	N	1.5	0.37844	L	-2.49	0.89145	D	-1.39	0.34397	N	0.081	0.05670	-0.6588	0.62329	T	0.432	0.77348	T	10	0.006714791	0.00152	T	0.026764	0.49648	D	0.134	0.36365	.	.	0.0611884634855	0.05136	.	.	0.103416740195	0.11694	0.269695729017	0.06102	T	0.012915	0.11266	T	-0.507279	0.00520	T	-0.496882	0.22672	T	0.0044591412858853	0.00048	T	0.444656	0.12411	T	0.040168952	0.05683	0.04170527	0.04802	0.040168952	0.05683	0.04170527	0.04802	-3.85	0.21553	T	.	.	0.099	0.16582	B	.	.	-0.691121	0.01341	0.074	0.94174593556714448	0.24390	0.00845	0.03380	N	AEFBI	0.018505	0.00566	N	-1.43407405907888	0.02345	0.1034406	-1.52516266837558	0.02152	0.09853252	0.00103176442059294	0.08148	0.497415	0.19182	0	0.547309	0.14657	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	3.56	-3.98	0.03810	-1.351000	0.02729	-3.057000	0.03100	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3017:0.2618:0.0:0.4365	3.352	0.06738	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1949.33	34	chr3	121586134	.	C	T	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.441;DP=784;ExcessHet=0;FS=3.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=1.16;QD=15.72;ReadPosRankSum=0.381;SOR=0.432	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1263	18	0	1	0
chr3	121692003	121692003	T	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon13:c.A7121G:p.K2374R,GOLGB1:NM_001366283:exon13:c.A7238G:p.K2413R,GOLGB1:NM_001366284:exon13:c.A7121G:p.K2374R,GOLGB1:NM_001256486:exon14:c.A7361G:p.K2454R,GOLGB1:NM_001256487:exon14:c.A7244G:p.K2415R,GOLGB1:NM_001366282:exon14:c.A7361G:p.K2454R,GOLGB1:NM_004487:exon14:c.A7346G:p.K2449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00410411187665	0.0005	0.000199681	0.0003	9.636e-05	8.637e-05	0	0.0008	0.0004	0	0	0.0002781	43	154602	rs141700840	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0	2.241e-05	0.0025	0	0.0007	0	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	2.405e-05	0	6.532e-05	0.0032	0	0.0004	0	0.0003	0.0005	0	0.554	0.07969	T	0.701	0.05707	T	0.005	0.12996	B	0.009	0.14300	B	0.000978	0.40836	D	0.173281	0.99653	0.22984	N	1.155	0.29575	L	2.53	0.14038	T	-0.39	0.13611	N	0.086	0.12055	-0.9975	0.30618	T	0.021	0.09009	T	10	0.0065080225	0.00147	T	0.004104	0.09806	T	0.058	0.16647	.	.	0.327952845175	0.32413	0.08809904998315389	0.08742	0.0922585899238	0.10416	0.349080562592	0.17786	T	0.015063	0.12707	T	-0.572359	0.00214	T	-0.747552	0.03582	T	0.0196461184613203	0.00667	T	0.79772	0.44325	T	0.03378218	0.03665	0.043009393	0.05255	0.03378218	0.03665	0.043009393	0.05254	-4.377	0.29625	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	0.913505	0.12881	9.391	0.80076898622141068	0.13034	0.38294	0.25956	N	AEFBI	0.076042	0.15287	N	-0.594700190155189	0.19104	0.9972882	-0.492499651672308	0.22359	1.214072	0.99830768287507	0.36726	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.65	0.57626	0.504000	0.22335	0.925000	0.22734	0.665000	0.62972	0.004000	0.16614	0.952000	0.29052	0.950000	0.49671	0.0:0.0834:0.0:0.9166	9.333	0.37194	395	0.83006	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2523.33	33	chr3	121692003	.	T	C	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.557;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:75,42:137:99:167,0,1152	4	0	13	2
chr3	121699862	121699862	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon11:c.C1303G:p.L435V,GOLGB1:NM_001366283:exon11:c.C1420G:p.L474V,GOLGB1:NM_001366284:exon11:c.C1303G:p.L435V,GOLGB1:NM_001256486:exon12:c.C1543G:p.L515V,GOLGB1:NM_001256487:exon12:c.C1426G:p.L476V,GOLGB1:NM_001366282:exon12:c.C1543G:p.L515V,GOLGB1:NM_004487:exon12:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0113713261511	0.0009	0.000998403	0.0006	0.0002	0.0006	0	0.0008	0.0009	0	0	0.0006727	104	154602	rs138003912	0.0009	0.0009	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	9.049e-05	0.0005	0.0024	0	0.0008	0	0.0010	0.0012	0	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0007	0.0007	0.0002	0	0.0008	0.0032	0	0.0004	0	0.0009	0.0005	0	0.041	0.41915	D	0.67	0.06305	T	0.948	0.53620	P	0.475	0.46927	P	0.310854	0.14436	N	0.639587	0.900289	0.27714	N	2.215	0.62545	M	2.46	0.23884	T	-0.83	0.25551	N	0.3	0.36464	-1.0586	0.12108	T	0.041	0.17573	T	10	0.011124253	0.00244	T	0.011371	0.28926	T	0.100	0.28662	.	.	0.48748946032	0.48381	0.08020059054051669	0.07955	0.373947390385	0.38853	0.314472615719	0.12584	T	0.016853	0.13851	T	-0.484808	0.00694	T	-0.474718	0.25010	T	0.0466383672391458	0.04900	T	0.857714	0.56740	D	0.04190374	0.06258	0.050656777	0.07996	0.04190374	0.06257	0.050656777	0.07995	-3.807	0.22393	T	.	.	0.069	0.03372	B	.;.;.;.	.;.;.;.	1.588612	0.20324	14.69	0.98139469999248707	0.38588	0.87647	0.47256	D	AEFBI	0.100141	0.20143	N	-0.302606735223563	0.29050	1.607505	-0.349123694849623	0.26535	1.466373	0.0844810700885953	0.15956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.72	0.988	0.18914	1.336000	0.33455	0.961000	0.22991	-0.746000	0.03629	1.000000	0.71638	0.994000	0.32194	0.429000	0.27427	0.4266:0.0:0.5734:0.0	7.677	0.27659	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1419.33	35	chr3	121699862	.	G	C	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=747;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.702;SOR=0.54	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1390	18	0	1	0
chr3	121781793	121781793	G	A	exonic	IQCB1	.	nonsynonymous SNV	IQCB1:NM_001023571:exon10:c.C961T:p.R321C,IQCB1:NM_001023570:exon13:c.C1360T:p.R454C,IQCB1:NM_001319107:exon13:c.C1360T:p.R454C	Senior-Loken syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2134879	Nephronophthisis	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.683	0.109962392981	7.7e-05	0.000199681	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.94e-05	3	154602	rs374241434	1.574e-05	1.573e-05	1.634e-05	1.513e-05	6.957e-05	1.048e-05	8.75e-06	2.995e-05	2.038e-05	0	0	0	2.521e-05	0	0	1.349e-05	1.656e-05	6.957e-05	1.971e-05	1.969e-05	3.857e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.000118	0.50451	D	0.175225	0.999922	0.52396	D	2.505	0.72935	M	-1.32	0.79761	T	-4.79	0.85027	D	0.37	0.50598	0.173	0.85449	D	0.589	0.85277	D	10	0.371924	0.53541	T	0.109962	0.78715	D	0.683	0.88396	.	.	0.966308267856	0.96594	0.5174883186511613	0.51671	0.11491008491	0.12965	0.249932259321	0.03761	T	0.344934	0.71338	T	0.0398559	0.57029	T	0.00100174	0.70402	D	0.931224286556244	0.59645	D	0.787321	0.42620	T	0.52108824	0.68322	0.31201917	0.57206	0.52108824	0.68323	0.31201917	0.57205	-10.25	0.76496	D	0.4616532142091171	0.54376	0.115	0.25265	B	.;.	.;.	5.195058	0.87139	29.1	0.99919357980789159	0.98654	0.86362	0.45627	D	AEFDBI	0.335807	0.43413	N	0.504512873356407	0.67357	5.070735	0.436919973692919	0.63881	4.630968	0.209608178145255	0.18222	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.61	3.74	0.42108	4.428000	0.59641	4.319000	0.42992	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1029:0.0:0.8971:0.0	8.760	0.33827	639	0.64210	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	44	chr3	121781793	.	G	A	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.236;DP=901;ExcessHet=0;FS=84.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=1.12;SOR=6.592	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr3	121872672	121872672	C	T	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon4:c.C230T:p.S77F,EAF2:NM_018456:exon5:c.C620T:p.S207F	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00159744	0.0011	0	8.703e-05	0.0150	0	0	0	6.065e-05	0.0009573	148	154602	rs200859609	0.0004	0.0004	0.0003	0.0004	0.0117	0.0003	0.0003	0.0108	0.0105	0	0	0	0.0117	0	0	5.398e-06	0.0007	0.0002	0.0005	0.0005	0.0004	0.0005	0.0128	0.0004	0.0004	0.0103	0.0094	0	0	0.0004	0	0.0128	0	0	0	0.0009	0	0.027	0.58626	D	0.423	0.62352	T	0.779	0.44223	P	0.177	0.35687	B	0.126177	0.18814	N	0.553824	1	0.08975	N	2.78	0.81115	M	.	.	.	-1.75	0.45404	N	0.333	0.37820	-1.0092	0.27167	T	0.072	0.29098	T	9	0.0046519935	0.00097	T	.	.	.	0.086	0.25016	.	.	0.209622950755	0.20551	0.1851376496143711	0.18431	0.201334601978	0.22533	0.328157424927	0.14656	T	0.178404	0.52904	T	-0.433669	0.01409	T	-0.382738	0.35401	T	0.0665746978342997	0.08161	T	0.734227	0.35027	T	0.05003569	0.08978	0.08015399	0.18106	0.05003569	0.08978	0.08015399	0.18106	-7.395	0.56869	T	.	.	0.102	0.22171	B	.;.	.;.	3.070616	0.41274	21.3	0.98581279728790761	0.43245	0.45273	0.27502	N	AEFBI	0.124874	0.24113	N	-0.250156032301205	0.31096	1.740337	-0.339082136321548	0.26849	1.485724	0.0900319818834573	0.16099	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.75	3.86	0.43689	3.677000	0.54354	5.612000	0.49058	0.549000	0.26987	0.382000	0.26022	1.000000	0.68203	0.466000	0.28252	0.0:0.9077:0.0:0.0922	11.145	0.47648	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	33	chr3	121872672	.	C	T	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=711;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.283;SOR=0.533	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr3	122001864	122001864	C	T	exonic	ILDR1	.	nonsynonymous SNV	ILDR1:NM_001199799:exon4:c.G380A:p.R127Q,ILDR1:NM_175924:exon4:c.G380A:p.R127Q	Deafness, autosomal recessive 42, Autosomal recessive	.	.	.	.	.	.	.	0.9998	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	1.362e-06	4.128e-06	3.48e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.037	0.54934	D	0.993	0.65571	D	0.865	0.61524	P	0.001452	0.38980	N	0.221552	0.999261	0.81001	D	1.04	0.26193	L	1.7	0.26885	T	-0.59	0.19085	N	0.48	0.57775	-1.1357	0.01528	T	0.087	0.33634	T	10	0.36406344	0.52961	T	0.00787	0.20877	T	0.123	0.34020	0.359	0.36222	0.488548280593	0.48485	0.4573916619636289	0.45657	0.294646407871	0.31881	0.624006927013	0.56295	T	0.003927	0.03333	T	-0.0751721	0.40498	T	-0.345756	0.39690	T	0.7914759516716	0.45786	D	0.924008	0.72230	D	0.109993525	0.26001	0.051294178	0.08225	0.109993525	0.26001	0.051294178	0.08225	-5.258	0.39526	T	.	.	0.118	0.30791	B	.;.;.	.;.;.	5.990462	0.94278	34	0.99943386608542462	0.99848	0.84228	0.43311	D	AEFDBI	0.365734	0.45380	N	0.494618438247657	0.66773	4.993915	0.508224570359585	0.68544	5.234543	0.999764258389036	0.42728	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.663205	0.64265	0	.	.	5.14	5.14	0.70008	2.361000	0.43814	6.008000	0.52598	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.912000	0.44740	0.0:0.9084:0.0:0.0916	9.795	0.39898	425	0.81160	.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	37	chr3	122001864	.	C	T	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.071;SOR=0.713	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	122409790	122409790	C	T	exonic	FAM162A	.	nonsynonymous SNV	FAM162A:NM_014367:exon5:c.C424T:p.R142C	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00695633036593	0.0010	0.00119808	0.0012	0.0003	0.0011	0	0	0.0018	0	0.0010	0.0012354	191	154602	rs200828064	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0019	0.0018	0.0003	0.0016	3.826e-05	0	0.0001	0.0017	0.0019	0.0015	0.0011	0.0012	0.0012	0.0011	0.0013	0.0037	0.0011	0.0010	0.0029	0.0026	0.0003	0	0.0037	0	0	9.441e-05	0.0034	0.0015	0.0014	0.0015	0.078	0.35165	T	0.074	0.43913	T	1.0	0.90584	D	0.938	0.67350	D	0.852977	0.07069	N	1.063990	0.992975	0.41798	D	2.2	0.62015	M	1.35	0.34648	T	-4.64	0.79316	D	0.482	0.51672	-0.6882	0.60992	T	0.260	0.63110	T	10	0.020639926	0.00479	T	0.006956	0.18402	T	0.274	0.59007	.	.	0.718990368013	0.71651	0.5326395550435546	0.53188	0.38152030644	0.39505	0.342588871717	0.16826	T	0.039027	0.25047	T	-0.361466	0.04047	T	-0.305227	0.44171	T	0.043101588203678	0.04256	T	0.889111	0.62070	D	0.253392	0.48360	0.19107679	0.42546	0.253392	0.48360	0.19107679	0.42545	-10.546	0.77111	D	.	.	0.234	0.46722	B	.;.	.;.	3.957508	0.58015	23.9	0.9950742718750536	0.68440	0.93321	0.57904	D	AEFDGBI	0.733638	0.68002	D	0.393175693818725	0.61052	4.301246	0.472325041761356	0.66163	4.916401	0.99999999915101	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.185000	0.50635	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	14.636	0.68287	467	0.78285	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	510.33	33	chr3	122409790	.	C	T	510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.927;DP=688;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.103;SOR=1.085	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1305	18	0	1	0
chr3	122415486	122415486	G	T	exonic	WDR5B	.	nonsynonymous SNV	WDR5B:NM_019069:exon1:c.C43A:p.L15I	.	433	1087	2	0	0	2	0.000919118	.	.	.	2754364	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00444761306482	.	.	0.0002	0	8.648e-05	0	0	0.0002	0	0.0003	0.0001423	22	154602	rs772415715	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	6.715e-05	0	0	0	0.0002	0.0001	0.0002	0.0003	5.257e-05	5.253e-05	2.57e-05	8.069e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.489	0.08018	T	0.213	0.26467	T	0.006	0.13644	B	0.01	0.14941	B	0.058237	0.22418	N	0.507705	1	0.08975	N	0	0.06538	N	0.72	0.50976	T	-0.07	0.08033	N	0.144	0.14480	-1.0433	0.16324	T	0.059	0.24612	T	10	0.058737755	0.06953	T	0.004448	0.10906	T	0.035	0.08770	0.253	0.19223	0.337868961071	0.33390	0.2485554253703162	0.24769	0.0813357452052	0.09147	0.242609456182	0.03030	T	0.015631	0.13075	T	-0.375267	0.03336	T	-0.476498	0.24819	T	0.0575135079697148	0.06771	T	0.761624	0.38671	T	0.06879444	0.15018	0.07675686	0.17034	0.06879444	0.15018	0.07675686	0.17033	-3.719	0.19599	T	.	.	0.062	0.01233	B	.	.	1.122082	0.15080	11.57	0.60110087276938962	0.06384	0.25819	0.22812	N	ALL	0.101370	0.20361	N	-0.88168658867708	0.11278	0.5434318	-0.853629670099769	0.13201	0.6834966	0.999999964772302	0.74766	0.266657	0.04791	1	0.093493	0.02558	3	0.47417	0.07244	0	0.372554	0.06265	0	.	.	4.78	1.96	0.25203	1.936000	0.39812	0.821000	0.21853	0.676000	0.76740	0.987000	0.36337	0.000000	0.08366	0.116000	0.19000	0.1497:0.1702:0.6801:0.0	6.699	0.22404	444	0.79803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1711.33	34	chr3	122415486	.	G	T	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=834;ExcessHet=0;FS=4.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.425;SOR=1.067	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr3	122556070	122556070	T	C	exonic	PARP9	.	nonsynonymous SNV	PARP9:NM_001146102:exon4:c.A206G:p.N69S,PARP9:NM_001146103:exon4:c.A101G:p.N34S,PARP9:NM_001146104:exon4:c.A101G:p.N34S,PARP9:NM_001146105:exon4:c.A101G:p.N34S,PARP9:NM_001146106:exon4:c.A101G:p.N34S,PARP9:NM_031458:exon4:c.A206G:p.N69S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00424402260117	.	0.000599042	0.0004	0	0	0.0001	0	3.105e-05	0.0034	0.0026	0.0003363	52	154602	rs542919548	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0020	0.0019	0.0002	0	0	2.52e-05	0	0.0002	2.519e-05	0.0002	0.0023	0.0001	0.0001	7.824e-05	0.0002	0.0032	7.73e-05	6.408e-05	0.0019	0.0016	2.473e-05	0	0	0	0	0	0	2.954e-05	0	0.0032	0.229	0.18371	T	0.125	0.35330	T	0.003	0.11197	B	0.007	0.12992	B	0.696529	0.06177	N	1.152870	1	0.08975	N	0.55	0.14455	N	3.18	0.16492	T	-0.49	0.34992	N	0.065	0.03726	-0.9658	0.38053	T	0.025	0.10777	T	10	0.0042847097	0.00086	T	0.004244	0.10247	T	0.026	0.05648	.	.	0.181679512989	0.17746	0.07987606234235436	0.07922	0.113139730866	0.12771	0.311400592327	0.12118	T	0.002884	0.21469	T	-0.708683	0.00032	T	-0.796917	0.01981	T	0.0112288495264323	0.00165	T	0.642236	0.25428	T	0.017457724	0.00274	0.019132009	0.00078	0.017457724	0.00274	0.019132009	0.00078	-3.032	0.11586	T	.	.	0.060	0.01810	B	.;.;.;.;.	.;.;.;.;.	-0.430520	0.02102	0.197	0.44707284327176872	0.03457	0.11923	0.16948	N	AEFDBIJ	0.087373	0.17717	N	-1.06237845757352	0.07346	0.3409841	-1.06694172015145	0.08357	0.41058	0.997489634977208	0.35668	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.31	0.142	0.14111	-0.071000	0.11465	-0.998000	0.06656	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.3219:0.0:0.6781	8.252	0.30893	461	0.78683	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	944.33	36	chr3	122556070	.	T	C	944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=719;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.243;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	18	0	1	0
chr3	122565906	122565906	G	A	exonic	DTX3L	.	nonsynonymous SNV	DTX3L:NM_138287:exon2:c.G235A:p.E79K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0093960294447	.	.	8.275e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs748994219	1.026e-05	1.026e-05	1.225e-05	8.25e-06	2.519e-05	6.16e-06	4.89e-06	3.09e-06	2.24e-06	0	0	0	2.519e-05	1.873e-05	0	7.194e-06	6.623e-05	1.159e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.37750	T	0.903	0.19421	T	0.001	0.07471	B	0.0	0.04355	B	0.032369	0.01752	N	2.203020	1	0.08975	N	0.345	0.11182	N	1.57	0.41392	T	-0.56	0.17003	N	0.136	0.13484	-1.0411	0.16981	T	0.075	0.30303	T	10	0.060353547	0.07401	T	0.009396	0.24646	T	0.046	0.12618	0.341	0.33302	0.288727942641	0.28479	0.20541249577607945	0.20458	0.131290004378	0.14809	0.270934164524	0.06263	T	0.02184	0.16939	T	-0.342192	0.05237	T	-0.729312	0.04358	T	0.0413936072313018	0.03943	T	0.686731	0.29555	T	0.03293492	0.03415	0.044662658	0.05837	0.03293492	0.03415	0.044662658	0.05837	-2.365	0.04923	T	.	.	0.086	0.10691	B	.;.	.;.	-0.358330	0.02373	0.260	0.60312188596707417	0.06433	0.01530	0.05038	N	AEFDBCI	0.018085	0.00522	N	-1.68619921737585	0.00892	0.03860096	-1.78889765663025	0.00795	0.035499	0.999999998241325	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.92	-7.95	0.01015	-1.639000	0.02113	-3.598000	0.02668	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2974:0.0:0.7026:0.0	16.641	0.84985	467	0.78285	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	477.33	35	chr3	122565906	.	G	A	477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=710;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=-1.311;SOR=0.467	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr3	122568928	122568928	C	T	exonic	DTX3L	.	nonsynonymous SNV	DTX3L:NM_138287:exon3:c.C839T:p.T280I	.	440	1066	15	1	0	17	0.00791066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0012	0.00199681	0.0028	0	0.0010	0	0.0003	0.0015	0.0034	0.0129	0.0024256	375	154602	rs150765058	0.0020	0.0020	0.0016	0.0024	0.0127	0.0019	0.0019	0.0121	0.0118	0.0002	0.0011	0.0002	2.519e-05	0.0002	0.0040	0.0014	0.0022	0.0127	0.0014	0.0014	0.0015	0.0012	0.0099	0.0012	0.0012	0.0077	0.0069	0.0005	0.0022	0.0011	0	0.0002	0	0	0.0017	0.0019	0.0099	0.24	0.17701	T	0.26	0.23029	T	0.055	0.22733	B	0.012	0.16012	B	0.970369	0.07774	N	1.014710	1	0.08975	N	1.355	0.33814	L	1.47	0.31987	T	-1.77	0.41809	N	0.034	0.00942	-0.9992	0.30143	T	0.051	0.21572	T	10	0.002496779	0.00038	T	.	.	.	0.027	0.05988	.	.	0.166414681773	0.16258	0.22390698128926792	0.22305	0.12876088093	0.14513	0.320928812027	0.13562	T	0.069773	0.33794	T	-0.705954	0.00034	T	-0.776442	0.02562	T	0.011062904583555	0.00160	T	0.573743	0.20563	T	0.032648463	0.03331	0.041804355	0.04836	0.032648463	0.03331	0.041804355	0.04836	-4.119	0.25569	T	.	.	0.097	0.15609	B	.	.	-0.401025	0.02208	0.221	0.62373071284015558	0.06946	0.04383	0.09962	N	AEFDGBI	0.020812	0.00859	N	-1.10467207507121	0.06560	0.3023053	-1.19944497374781	0.05920	0.2834475	0.999999295850087	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.52	-4.73	0.03022	-0.980000	0.03880	-4.061000	0.02365	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1237:0.1693:0.0:0.707	9.653	0.39072	462	0.78611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1572.33	34	chr3	122568928	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.11;DP=781;ExcessHet=0;FS=1.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.607;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	18	0	1	0
chr3	122636042	122636042	T	C	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001308321:exon7:c.T1070C:p.F357S,PARP15:NM_152615:exon8:c.T1277C:p.F426S,PARP15:NM_001308320:exon9:c.T1394C:p.F465S,PARP15:NM_001113523:exon12:c.T1979C:p.F660S	.	435	1084	2	1	0	4	0.00184162	.	.	.	2349710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.342	0.0187948495088	.	.	1.654e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs752861790	3.831e-05	3.831e-05	3.812e-05	3.85e-05	0.0026	3.026e-05	2.719e-05	0.0016	0.0013	2.988e-05	0	0	0	0	0.0026	2.698e-05	0.0001	1.159e-05	7.221e-05	7.218e-05	7.71e-05	6.711e-05	0.0001	3.968e-05	3.125e-05	4.765e-05	3.339e-05	4.811e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999975	0.53665	D	3.51	0.92865	H	1.87	0.24085	T	-7.2	0.95634	D	0.893	0.89242	-0.6438	0.62983	T	0.223	0.58742	T	9	0.88816774	0.88151	D	0.018795	0.40979	T	0.342	0.66392	.	.	0.361360026772	0.35753	0.9137294679728841	0.91347	0.365701277882	0.38159	0.577637434006	0.49754	T	0.121954	0.44528	T	0.0572258	0.59263	T	-0.0919297	0.64016	T	0.971384522915957	0.69297	D	0.872813	0.58002	D	0.8271664	0.85707	0.76341116	0.86023	0.8271664	0.85708	0.76341116	0.86024	-10.923	0.79234	D	.	.	0.785	0.76600	P	.;.;.;.	.;.;.;.	3.387776	0.46888	22.4	0.99757863554995818	0.84772	0.75578	0.37011	D	AEDGBIJ	0.469559	0.51589	N	0.356553459793028	0.59086	4.085296	0.098892331474305	0.44495	2.730025	0.999999997333784	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.8	2.64	0.30504	2.386000	0.44034	2.552000	0.33269	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0:0.1027:0.0:0.8973	7.863	0.28680	531	0.73574	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	1090.33	45	chr3	122636042	.	T	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.116;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1356	18	0	1	0
chr3	122718848	122718848	C	T	exonic	PARP14	.	nonsynonymous SNV	PARP14:NM_017554:exon14:c.C4697T:p.T1566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0245065411676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.104	0.38160	T	0.533	0.37766	P	0.317	0.41633	B	0.760736	0.06538	N	1.122620	1	0.08975	N	2.4	0.69460	M	0.72	0.50976	T	-3.28	0.65627	D	0.078	0.05287	-0.9138	0.46377	T	0.131	0.44188	T	10	0.11602098	0.21875	T	0.024507	0.47498	T	0.050	0.13987	0.311	0.28451	0.495640347216	0.49198	0.2940798763515341	0.29320	0.23827783894	0.26374	0.319477140903	0.13342	T	0.158387	0.50138	T	-0.303658	0.08318	T	-0.67396	0.07357	T	0.119940146803856	0.14424	T	0.471053	0.13966	T	0.059904005	0.12228	0.053589	0.09054	0.059904005	0.12228	0.053589	0.09054	-5.618	0.42956	T	.	.	0.109	0.20663	B	.	.	-0.597821	0.01577	0.105	0.985002539254897	0.42204	0.11888	0.16925	N	AEFBI	0.125902	0.24261	N	-0.832250288111308	0.12491	0.609186	-0.989297795708188	0.10024	0.5023397	0.00615239341168821	0.11143	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	-3.32	0.04663	-2.744000	0.00867	-1.561000	0.05168	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.492:0.1737:0.2609:0.0734	4.292	0.10326	855	0.34697	WWE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	35	chr3	122718848	.	C	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.267;DP=1106;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.44;SOR=0.918	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr3	123124132	123124132	G	A	exonic	PDIA5	.	nonsynonymous SNV	PDIA5:NM_006810:exon9:c.G676A:p.G226S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.0571235572356	.	.	5.766e-05	0	0.0002	0	0	1.499e-05	0.0011	0.0002	4.53e-05	7	154602	rs763335058	3.763e-05	3.762e-05	2.995e-05	4.538e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	2.987e-05	0.0001	0	0	0	0.0002	1.889e-05	3.312e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.006	0.61437	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.135	0.28956	L	-0.45	0.69896	T	-5.22	0.83830	D	0.603	0.62103	-0.2952	0.75119	T	0.446	0.78197	T	10	0.8860818	0.87936	D	0.057124	0.66853	D	0.641	0.86333	0.843	0.94784	0.893365600727	0.89231	0.8643225492454258	0.86396	0.233473178775	0.25879	0.584162533283	0.50671	T	0.230466	0.59654	T	0.143879	0.68692	D	0.243195	0.85298	D	0.765461564064026	0.44169	D	0.855414	0.54290	D	0.58412653	0.71833	0.50171405	0.71195	0.58412653	0.71834	0.50171405	0.71195	-6.409	0.49579	T	.	.	0.086	0.10691	B	.	.	4.812824	0.78317	26.9	0.99896608364897044	0.96971	0.98767	0.86589	D	AEFDBI	0.878821	0.80433	D	0.743752340266674	0.82497	7.77726	0.730732814313527	0.84714	8.369155	0.999999999847936	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	6.834000	0.75131	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	17.267	0.86975	829	0.39537	Thioredoxin domain|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2254.33	37	chr3	123124132	.	G	A	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.602;DP=783;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.297;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1493	18	0	1	0
chr3	123161429	123161429	G	T	exonic	PDIA5	.	nonsynonymous SNV	PDIA5:NM_006810:exon16:c.G1453T:p.A485S	.	432	1089	1	0	0	1	0.000458926	.	.	.	2357996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0129014834022	.	.	0.0004	9.626e-05	0	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143043425	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.987e-05	0	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.665e-05	7.256e-05	0.0001	8.876e-05	9.65e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.737	0.03730	T	0.743	0.04930	T	0.008	0.14655	B	0.032	0.22131	B	0.917767	0.08508	N	0.966428	1	0.08975	N	0.365	0.12025	N	3.92	0.03462	T	-0.12	0.08809	N	0.104	0.08786	-0.8966	0.48331	T	0.007	0.02360	T	10	0.022210926	0.00549	T	0.012901	0.31871	T	0.036	0.09122	.	.	0.112648838833	0.10856	0.6093781763751679	0.60869	0.0679411648131	0.07611	0.267855674028	0.05863	T	0.018602	0.14967	T	-0.518997	0.00446	T	-0.644887	0.09317	T	0.0111237652415482	0.00162	T	0.789921	0.43036	T	0.020126518	0.00561	0.03338597	0.02224	0.020126518	0.00560	0.03338597	0.02223	-3.724	0.19673	T	.	.	0.077	0.06525	B	.	.	-0.003961	0.04254	1.055	0.74558775646986108	0.10740	0.27769	0.23369	N	AEFDBHCI	0.562150	0.56986	D	-1.4218501526268	0.02447	0.1080887	-1.37425613048961	0.03528	0.1647716	0.58449642951994	0.21597	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.32	-0.324	0.12076	0.849000	0.27375	1.041000	0.23557	-0.740000	0.03671	0.161000	0.23811	0.000000	0.08366	0.266000	0.23669	0.2912:0.1193:0.5895:0.0	8.488	0.32242	831	0.39019	Thioredoxin domain|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1240.33	42	chr3	123161429	.	G	T	1240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.52;SOR=0.705	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1254,0,800	18	0	1	0
chr3	123209224	123209224	A	G	exonic	SEC22A	.	nonsynonymous SNV	SEC22A:NM_012430:exon2:c.A7G:p.M3V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0024935617248	.	.	2.473e-05	9.619e-05	0	0.0001	0	0	0	6.064e-05	1.94e-05	3	154602	rs746682356	4.105e-06	4.104e-06	1.361e-06	6.876e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.28271	T	0.208	0.39799	T	0.0	0.02946	B	0.0	0.01387	B	0.002913	0.35737	N	0.319209	0.998953	0.45755	D	2.23	0.63091	M	1.79	0.25509	T	-2.64	0.63782	D	0.373	0.41459	-1.0547	0.13119	T	0.058	0.24354	T	10	0.20392847	0.36566	T	0.002494	0.04953	T	0.171	0.43483	0.581	0.70733	0.320526991862	0.31653	0.45823066223830594	0.45741	0.110930127955	0.12519	0.397450447083	0.24714	T	0.472513	0.80476	T	-0.281754	0.10483	T	-0.460968	0.26493	T	0.141711369156837	0.16422	T	0.693531	0.30785	T	0.057582173	0.11479	0.09355722	0.22103	0.057582173	0.11478	0.09355722	0.22103	-5.287	0.39814	T	.	.	0.068	0.24599	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.231997	0.16270	12.43	0.92285917865527889	0.21672	0.90018	0.50874	D	AEFBI	0.359282	0.44966	N	-0.225031841057357	0.32109	1.807369	-0.172520886409489	0.32552	1.853085	0.00230652191987025	0.09310	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.63	0.752	0.17546	1.987000	0.40309	-0.159000	0.11341	-0.043000	0.17390	1.000000	0.71638	0.004000	0.18990	0.997000	0.79791	0.5336:0.151:0.17:0.1454	1.223	0.01810	618	0.66225	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	35	chr3	123209224	.	A	G	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=709;ExcessHet=0;FS=6.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.373;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	18	0	1	0
chr3	123528394	123528394	C	T	exonic	HACD2	.	nonsynonymous SNV	HACD2:NM_001329786:exon3:c.G40A:p.V14I,HACD2:NM_001329787:exon4:c.G40A:p.V14I,HACD2:NM_198402:exon4:c.G373A:p.V125I,HACD2:NM_001329783:exon5:c.G442A:p.V148I,HACD2:NM_001329784:exon6:c.G94A:p.V32I	.	429	1091	2	0	0	2	0.000915751	.	.	.	2353980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00753305947364	0.0002	.	0.0001	0.0001	0.0005	0	0	0.0001	0	0	9.06e-05	14	154602	rs202187144	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0.0001	0.0006	0	0	0	0.0054	0.0001	0.0003	4.653e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	0.0001	8.877e-05	4.828e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.575	0.08559	T	0.581	0.08476	T	0.613	0.39753	P	0.172	0.35394	B	0.000006	0.62929	D	0.062067	0.999996	0.58761	D	0.24	0.09707	N	1.56	0.29602	T	-0.31	0.12661	N	0.369	0.41063	-1.0860	0.06227	T	0.046	0.19720	T	10	0.07929033	0.12737	T	0.007533	0.19979	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.46724219308350895	0.46643	0.660611883695	0.58878	0.628473460674	0.56928	T	0.00759	0.06987	T	-0.376745	0.03266	T	-0.444795	0.28273	T	0.0279592877366871	0.01683	T	0.788221	0.46890	T	0.065478735	0.13998	0.07296085	0.15800	0.065478735	0.13998	0.07296085	0.15800	-6.566	0.50793	T	.	.	0.135	0.29339	B	.;.	.;.	3.547479	0.49856	22.8	0.97872424511323142	0.36540	0.72571	0.35516	D	AEFBHCI	0.641725	0.61896	D	0.128755976651392	0.47808	3.001382	0.271933121642397	0.53906	3.557516	0.999999966736717	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	5.805000	0.68809	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.428	0.74794	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.004076	0.020468	0.000000	0.017241	0.000000	0.000000	0.02632	964.33	33	chr3	123528394	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=741;ExcessHet=0;FS=2.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.446;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	18	0	1	0
chr3	123931177	123931177	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366336:exon8:c.A1247G:p.E416G,CCDC14:NM_001366338:exon8:c.A1247G:p.E416G,CCDC14:NM_001366339:exon9:c.A1364G:p.E455G,CCDC14:NM_001366337:exon10:c.A1247G:p.E416G,CCDC14:NM_001308317:exon11:c.A1247G:p.E416G,CCDC14:NM_022757:exon11:c.A1580G:p.E527G,CCDC14:NM_001366335:exon12:c.A1703G:p.E568G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0280318344195	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330740715	1.027e-05	1.026e-05	5.449e-06	1.514e-05	0.0001	6.17e-06	4.89e-06	8.024e-05	6.257e-05	0	0	0	2.522e-05	0	0	0	3.315e-05	0.0001	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.156	0.92824	T	0.992	0.64738	D	0.73	0.55268	P	0.001179	0.39978	N	0.206931	0.862698	0.35416	D	.	.	.	0.55	0.54728	T	-4.53	0.79829	D	0.521	0.55453	-0.5548	0.66603	T	0.245	0.61354	T	10	0.33476645	0.50645	T	0.028032	0.50763	D	0.124	0.34239	.	.	0.720972507343	0.71851	0.13512863371810796	0.13436	0.351684003519	0.37005	0.377224862576	0.21863	T	0.294173	0.66686	T	-0.0995123	0.36506	T	-0.280089	0.46794	T	0.952404379844666	0.63783	D	0.805919	0.64163	T	.	.	.	.	.	.	.	.	-8.875	0.68248	D	.	.	0.186	0.43869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.944466	0.81627	27.6	0.99919642734404479	0.98654	0.86759	0.46109	D	AEFGBI	0.224830	0.34900	N	0.29540124871822	0.55916	3.755646	0.345965930486884	0.58265	3.996072	0.782480471031075	0.23869	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.17	4.01	0.45821	4.008000	0.56815	5.930000	0.51304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0894:0.0:0.9106	9.686	0.39263	779	0.47767	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1095.33	35	chr3	123931177	.	T	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=722;ExcessHet=0;FS=5.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.782;SOR=1.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	18	0	1	0
chr3	124719237	124719237	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon27:c.G3634A:p.A1212T,KALRN:NM_007064:exon27:c.G3637A:p.A1213T,KALRN:NM_001024660:exon60:c.G8728A:p.A2910T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00894019798539	7.7e-05	.	2.472e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs146977122	2.121e-05	2.121e-05	2.178e-05	2.063e-05	0.0005	1.52e-05	1.324e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.158e-05	4.967e-05	1.159e-05	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.552	0.06543	T	0.57	0.19480	T	.	.	.	.	.	.	0.000007	0.62929	D	0.063050	0.549518	0.32529	D	.	.	.	-0.13	0.64818	T	-1.24	0.38151	N	0.161	0.16864	-0.9254	0.44801	T	0.113	0.40377	T	10	0.15567157	0.29335	T	0.00894	0.23559	T	0.111	0.31313	.	.	0.446291797366	0.44249	.	.	.	.	0.670887410641	0.62964	T	0.014192	0.12131	T	-0.12372	0.32517	T	-0.351846	0.38993	T	0.362778782844543	0.27518	T	0.741226	0.36463	T	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.271	0.51227	B	.;.	.;.	4.141395	0.62054	24.4	0.98903936096978895	0.48235	0.98057	0.79234	D	AEFGBI	0.934508	0.92799	D	0.34478214473721	0.58463	4.01885	0.466104819902493	0.65756	4.864372	0.99999992925987	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.52	4.57	0.55860	6.857000	0.75254	8.393000	0.77090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.078:0.0:0.922:0.0	14.941	0.70643	761	0.50382	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2250.33	34	chr3	124719237	.	G	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=808;ExcessHet=0;FS=3.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.499;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr3	124796776	124796776	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C846G:p.S282R,ITGB5:NM_001354764:exon10:c.C981G:p.S327R,ITGB5:NM_001354765:exon10:c.C981G:p.S327R,ITGB5:NM_002213:exon10:c.C1305G:p.S435R	.	.	.	.	.	.	.	.	.	.	.	2227924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0371585842553	0.0008	0.000399361	0.0001	0.0012	8.694e-05	0	0	0	0.0012	0	0.0001294	20	154602	rs141196770	3.356e-05	3.352e-05	3.814e-05	2.892e-05	0.0010	2.569e-05	2.314e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0.0002	1.8e-06	0.0001	0	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.487	0.11656	T	0.25	0.31189	B	0.202	0.36942	B	0.107278	0.19578	N	0.575030	1	0.08975	N	-0.245	0.03879	N	-3.04	0.92357	D	-1.16	0.29727	N	0.258	0.29197	-0.5566	0.66534	T	0.438	0.77739	T	10	0.016452432	0.00347	T	0.037159	0.57442	D	0.176	0.44373	0.456	0.52102	0.983145603634	0.98295	0.52662235661895	0.52586	0.28871146839	0.31282	0.269775986671	0.06112	T	0.433412	0.78086	T	-0.294446	0.09193	T	-0.246168	0.50195	T	0.0221775784257982	0.00928	T	0.49475	0.15376	T	0.027617028	0.01978	0.041906316	0.04870	0.027617028	0.01978	0.041906316	0.04870	-3.393	0.14963	T	.	.	0.112	0.31532	B	.;.	.;.	1.298071	0.16994	12.89	0.98231530405293055	0.39396	0.18286	0.20197	N	AEFDBHCI	0.289425	0.40107	N	-0.803739948952158	0.13215	0.6494229	-0.751988647720356	0.15673	0.8254845	0.999999624828541	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.11	3.28	0.36691	0.068000	0.14398	2.758000	0.34584	-0.153000	0.12021	0.001000	0.13787	0.984000	0.30665	0.444000	0.27761	0.142:0.1235:0.6072:0.1273	4.500	0.11266	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	830.33	59	chr3	124796776	.	G	C	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.394;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.108;SOR=0.713	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	124796785	124796785	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C837G:p.S279R,ITGB5:NM_001354764:exon10:c.C972G:p.S324R,ITGB5:NM_001354765:exon10:c.C972G:p.S324R,ITGB5:NM_002213:exon10:c.C1296G:p.S432R	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0129158891781	0.0004	0.000399361	0.0012	0	0.0002	0	0	0.0007	0.0012	0.0063	0.0009508	147	154602	rs150312150	0.0006	0.0006	0.0004	0.0008	0.0059	0.0006	0.0006	0.0054	0.0053	0	0.0003	0.0046	0	0	0.0035	0.0002	0.0007	0.0059	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	9.62e-05	0	0.0007	0.0052	0	0	0	0.0004	0	0.0046	0.052	0.39097	T	0.249	0.23776	T	0.014	0.16867	B	0.016	0.17743	B	0.000000	0.84330	N	0.086462	0.999955	0.52396	D	1.665	0.42610	L	-0.18	0.65747	T	-2.15	0.48687	N	0.457	0.49420	-0.9201	0.45540	T	0.143	0.46532	T	10	0.022109747	0.00544	T	0.012916	0.31907	T	0.148	0.39182	0.367	0.37524	0.746073329902	0.74378	0.6587996648570885	0.65816	0.744109997126	0.63423	0.430301964283	0.29249	T	0.612137	0.87723	D	-0.322596	0.06687	T	-0.234382	0.51345	T	0.0383054088154707	0.03386	T	0.831417	0.60805	T	0.3502235	0.57085	0.3172702	0.57702	0.3502235	0.57085	0.3172702	0.57702	-4.225	0.27112	T	.	.	0.333	0.55424	B	.;.	.;.	2.870006	0.37944	20.6	0.99215733822871466	0.55747	0.93104	0.57338	D	AEFDBHCI	0.797201	0.72411	D	-0.0933624009340882	0.37683	2.195936	0.100109165932602	0.44555	2.734984	0.999999973673797	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.26	4.32	0.50899	4.672000	0.61290	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0811:0.0:0.9189:0.0	14.465	0.67053	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	856.33	59	chr3	124796785	.	G	C	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.508;DP=738;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.193;SOR=0.467	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr3	124809080	124809080	T	G	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354764:exon9:c.A881C:p.Q294P,ITGB5:NM_001354765:exon9:c.A881C:p.Q294P,ITGB5:NM_002213:exon9:c.A1205C:p.Q402P	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.120757467024	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0017	0.0002135	33	154602	rs536114448	0.0001	0.0001	6.262e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0005	1.079e-05	0.0002	0.0018	6.567e-05	6.562e-05	0	0.0001	0.0021	3.515e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.125	0.27310	T	0.117	0.36365	T	0.999	0.77913	D	0.972	0.72692	D	0.000058	0.53742	D	0.131198	1	0.81001	D	0.995	0.25082	L	-3.07	0.92508	D	-2.59	0.55821	D	0.758	0.75650	0.663	0.92713	D	0.777	0.92439	D	10	0.2229256	0.39057	T	0.120757	0.80137	D	0.853	0.95470	.	.	0.986361564734	0.98620	0.8658328736791546	0.86548	0.943060605836	0.72287	0.543304145336	0.44912	T	0.736361	0.92661	D	0.0491796	0.58239	T	0.290603	0.87712	D	0.199357042209998	0.20381	T	0.79532	0.46599	T	0.42472312	0.62404	0.39521325	0.64195	0.42472312	0.62405	0.39521325	0.64195	-5.65	0.43246	T	.	.	0.113	0.32054	B	.;.	.;.	4.268948	0.64932	24.8	0.99248903288940415	0.56792	0.97453	0.74846	D	AEFBI	0.960053	0.98068	D	0.598182897834337	0.73061	5.904948	0.62954446412755	0.77097	6.613892	0.999999999999171	0.74766	0.732398	0.92422	0	0.627178	0.54094	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	7.538000	0.80960	7.932000	0.75071	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.0:1.0	15.498	0.75410	866	0.32446	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1339.33	33	chr3	124809080	.	T	G	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.437;SOR=0.701	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1467	18	0	1	0
chr3	124913597	124913597	A	T	exonic	MUC13	.	nonsynonymous SNV	MUC13:NM_033049:exon7:c.T1049A:p.L350Q	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0852566408937	.	.	4.119e-05	0	8.637e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs757646115	4.241e-05	4.241e-05	4.628e-05	3.85e-05	0.0024	3.376e-05	3.065e-05	0.0015	0.0012	0	0.0002	0.0002	0	0	0.0024	1.888e-05	0.0002	0	6.563e-05	6.561e-05	6.421e-05	6.711e-05	0.0003	3.513e-05	2.613e-05	8.867e-05	5.28e-05	0	0	0.0003	0	0	0	0.0102	2.94e-05	0.0005	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.899217	0.07344	N	1.060720	1	0.08975	N	2.05	0.56469	M	.	.	.	.	.	.	0.445	0.48319	-0.2489	0.76389	T	0.726	0.90625	D	10	0.35813743	0.52513	T	0.085257	0.74496	D	.	.	.	.	0.502191834036	0.49857	0.9531813747419894	0.95302	.	.	0.320645570755	0.13519	T	0.087876	0.38038	T	-0.283721	0.10276	T	-0.334803	0.40931	T	0.114377364516258	0.13872	T	0.477152	0.14354	T	0.041387983	0.06086	0.067214295	0.13876	0.041387983	0.06086	0.067214295	0.13876	-8.354	0.63458	D	.	.	0.188	0.40441	B	.	.	1.911983	0.24286	16.34	0.98431601904851662	0.41409	0.04385	0.09965	N	AEFBI	0.069759	0.13821	N	-0.361976505017852	0.26835	1.467605	-0.584531248132694	0.19895	1.069537	0.936075388088772	0.27239	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.08	2.9	0.32809	0.815000	0.26910	1.201000	0.24837	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7847:0.2153:0.0:0.0	7.686	0.27704	889	0.27310	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.050000	0.008621	0.000000	0.000000	0.02632	1685.33	39	chr3	124913597	.	A	T	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=782;ExcessHet=0;FS=5.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.713;SOR=0.443	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	18	0	1	0
chr3	125563703	125563703	C	G	exonic	OSBPL11	.	nonsynonymous SNV	OSBPL11:NM_022776:exon7:c.G1009C:p.A337P	.	430	1090	1	0	1	2	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00639010457038	.	.	0.0004	0	0	0	0	1.499e-05	0	0.0027	0.0002975	46	154602	rs146042429	0.0002	0.0002	5.581e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.988e-05	0	0	0	0	0	2.698e-06	0.0002	0.0024	9.848e-05	9.842e-05	5.139e-05	0.0001	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.362	0.11844	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.01387	B	0.236843	0.15798	N	0.620908	0.809204	0.29021	N	0	0.06538	N	2.2	0.18570	T	-0.01	0.07155	N	0.208	0.23125	-1.0133	0.25880	T	0.017	0.07140	T	10	0.0069034696	0.00157	T	0.00639	0.16812	T	0.033	0.08068	0.392	0.41606	0.250512400709	0.24649	0.20020077892826815	0.19937	0.61343527354	0.55908	0.345027327538	0.17186	T	0.016841	0.13845	T	-0.52424	0.00415	T	-0.531049	0.19182	T	0.0229632219552941	0.01019	T	0.69713	0.30670	T	0.06195635	0.12888	0.041967664	0.04891	0.06195635	0.12887	0.041967664	0.04890	-2.965	0.09809	T	.	.	0.069	0.03197	B	.	.	1.701808	0.21679	15.30	0.95227784930594184	0.26456	0.63280	0.32040	D	AEFBI	0.206120	0.33241	N	-0.836811660042394	0.12377	0.6029344	-0.720062887150652	0.16461	0.8709383	0.00166747586990934	0.08760	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.83	0.66	0.17038	0.090000	0.14865	.	.	0.549000	0.26987	0.598000	0.27730	0.270000	0.24042	0.990000	0.65344	0.2229:0.3407:0.0:0.4364	2.506	0.04363	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	31	chr3	125563703	.	C	G	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.34;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	18	0	1	0
chr3	126158447	126158447	G	A	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270364:exon3:c.C350T:p.P117L,ALDH1L1:NM_001270365:exon3:c.C320T:p.P107L,ALDH1L1:NM_012190:exon3:c.C320T:p.P107L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.0826987222533	0.0008	0.000399361	0.0008	0.0003	0.0003	0	0	0.0014	0	0.0002	0.0006662	103	154602	rs149080804	0.0011	0.0011	0.0011	0.0011	0.0013	0.0011	0.0010	0.0013	0.0013	0.0002	0.0006	3.831e-05	0	0.0002	0.0002	0.0013	0.0011	0.0002	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0013	0	0	9.411e-05	0	0.0011	0.0019	0	0.001	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.35	0.98464	H	-1.97	0.85173	D	-8.96	0.98804	D	0.914	0.94432	0.927	0.96063	D	0.836	0.94503	D	10	0.6392314	0.68960	D	0.082699	0.73957	D	0.828	0.94541	.	.	0.975417919692	0.97515	0.9103714976162477	0.91011	0.750607852197	0.63758	0.793024301529	0.80902	T	0.80987	0.95237	D	0.0979201	0.64067	D	0.363888	0.90848	D	0.388467460870743	0.28506	T	0.997234	0.98911	D	0.7894856	0.83241	0.67623496	0.80987	0.7894856	0.83242	0.67623496	0.80988	-13.156	0.94077	D	.	.	0.967	0.89791	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.105365	0.85319	28.6	0.99872071616988545	0.94989	0.98872	0.87979	D	AEFDBI	0.971973	0.99391	D	0.948209888882295	0.93913	12.36614	0.822035725929392	0.91283	10.80852	0.999999980386838	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	9.822000	0.98298	11.594000	0.93426	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.0:1.0:0.0	15.449	0.74987	794	0.45591	Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1612.33	39	chr3	126158447	.	G	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=747;ExcessHet=0;FS=5.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.437;SOR=1.279	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1309	18	0	1	0
chr3	126536323	126536323	C	G	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C150G:p.S50R	.	432	1072	17	0	1	18	0.00786673	.	.	.	3297393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0654933683097	0.0008	0.000798722	0.0010	0.0006	0.0004	0	0	0.0014	0.0033	0.0011	0.001022	158	154602	rs147017058	0.0014	0.0014	0.0013	0.0015	0.0153	0.0013	0.0013	0.0127	0.0117	0.0009	0.0007	0.0029	0	0	0.0153	0.0015	0.0016	0.0011	0.0011	0.0011	0.0011	0.0011	0.0015	0.0010	0.0009	0.0013	0.0012	0.0004	0	0.0009	0.0032	0	0	0.0408	0.0015	0.0024	0.0010	0.003	0.68238	D	0.02	0.60337	D	0.999	0.77913	D	0.965	0.71173	D	0.077178	0.21120	N	0.450948	0.901504	0.27691	N	2.455	0.71248	M	-0.4	0.69287	T	-1.61	0.38734	N	0.525	0.55453	-0.6095	0.64424	T	0.346	0.71060	T	10	0.014990956	0.00315	T	0.065493	0.69595	D	0.212	0.50341	0.424	0.46857	0.683872430874	0.68117	0.9055490879127142	0.90527	1.8037777233	0.91694	0.504722952843	0.39487	T	0.007551	0.17550	T	-0.371903	0.03499	T	-0.347522	0.39488	T	0.0500039741012342	0.05501	T	0.79532	0.52582	T	0.13184346	0.30719	0.11423102	0.27574	0.13184346	0.30719	0.11423102	0.27573	-3.17	0.12117	T	.	.	0.634	0.74756	P	.;.	.;.	1.723463	0.21940	15.41	0.99120887092430421	0.52985	0.36346	0.25512	N	AEFBCI	0.165964	0.29251	N	-0.484961235902419	0.22573	1.206271	-0.743055200314894	0.15893	0.8381397	0.998146440410154	0.36487	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.03	-3.62	0.04251	-0.265000	0.08671	0.014000	0.13486	-0.341000	0.05685	0.933000	0.32380	0.962000	0.29361	0.224000	0.22571	0.0:0.6675:0.0:0.3325	9.821	0.40049	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1435.33	41	chr3	126536323	.	C	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=761;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.104;SOR=0.865	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1455	18	0	1	0
chr3	126654869	126654869	G	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs773329142	1.011e-05	1.642e-05	4.931e-06	1.556e-05	0.0003	5.39e-06	4.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0003	1.979e-05	1.97e-05	0	4.05e-05	0.0006	5.26e-06	2.46e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300242	0.82987	D	0.194	0.82768	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.625622	0.95503	35	0.96933405206962642	0.31668	0.04905	0.10654	N	ALL	0.033397	0.03951	N	-0.179455719101579	0.33990	1.934852	-0.577118542322713	0.20091	1.080856	0.99999999999964	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.07	-0.228	0.12452	0.018000	0.13315	2.087000	0.30527	0.576000	0.29215	0.006000	0.17386	0.322000	0.24328	0.020000	0.11549	0.2697:0.1909:0.5394:0.0	4.101	0.09486	862	0.33134	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	500.33	35	chr3	126654869	.	G	T	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.769;DP=663;ExcessHet=0;FS=3.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.245;SOR=0.62	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1049	18	0	1	0
chr3	126727132	126727132	C	T	exonic	CHCHD6	.	nonsynonymous SNV	CHCHD6:NM_001320610:exon2:c.C142T:p.P48S,CHCHD6:NM_032343:exon2:c.C142T:p.P48S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0184860357885	0.0005	0.000998403	0.0003	0.0012	0.0005	0	0	0.0003	0.0011	0	0.0003363	52	154602	rs139974706	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0.0007	0.0013	0	0	1.872e-05	0.0035	0.0001	0.0006	1.159e-05	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0004	0.0012	0.0011	0.0011	0	0.0018	0	0	0	0	0.0001	0.0024	0	0.132	0.26519	T	0.327	0.21011	T	0.243	0.30970	B	0.078	0.28627	B	0.164098	0.17572	N	0.567636	1	0.08975	N	.	.	.	1.02	0.40749	T	-1.17	0.34198	N	0.136	0.24758	-1.0525	0.13709	T	0.080	0.31824	T	10	0.011856049	0.00257	T	0.018486	0.40571	T	0.035	0.08770	.	.	0.16115917748	0.15686	0.19158332000526715	0.19076	0.0526948635946	0.05807	0.301848828793	0.10676	T	0.005216	0.04657	T	-0.607701	0.00131	T	-0.68623	0.06610	T	0.0112220169575332	0.00165	T	0.530047	0.17581	T	0.030376067	0.02690	0.032493185	0.01993	0.030376067	0.02690	0.032493185	0.01993	-3.964	0.23263	T	.	.	0.070	0.04681	B	.;.	.;.	0.067257	0.04764	1.385	0.95078144214533755	0.26125	0.01238	0.04371	N	AEFBI	0.040570	0.06054	N	-0.857027040197855	0.11878	0.5756929	-0.98798706814173	0.10054	0.5040183	0.0461403415749677	0.14678	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.92	0.806	0.17851	0.349000	0.19801	-0.522000	0.08684	-0.242000	0.07441	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.4724:0.2499:0.2777	3.208	0.06274	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.015152	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1218.33	122	chr3	126727132	.	C	T	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=741;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.418;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	18	0	1	0
chr3	127018321	127018321	C	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon19:c.C3688T:p.P1230S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0519613252776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.064	0.44905	T	0.845	0.46707	P	0.794	0.57880	P	0.000014	0.62929	D	0.000000	0.999944	0.51968	D	2.905	0.84014	M	0.53	0.55090	T	-4.02	0.74269	D	0.843	0.83885	-0.1957	0.77782	T	0.351	0.71478	T	10	0.89129347	0.88472	D	0.051961	0.64878	D	0.367	0.68670	0.689	0.82653	0.603713162293	0.60054	0.8076294725806723	0.80717	2.12076249528	0.95014	0.693473875523	0.66205	T	0.597548	0.87053	D	0.0209648	0.54511	T	-0.207662	0.53917	T	0.994094789028168	0.85193	D	0.954105	0.82551	D	0.27569216	0.50632	0.23120733	0.48245	0.27569216	0.50632	0.23120733	0.48244	-13.029	0.89483	D	.	.	0.932	0.85202	P	.	.	3.936421	0.57567	23.9	0.99889065716388359	0.96359	0.97640	0.76089	D	AEFBCI	0.837258	0.75491	D	0.524966389171134	0.68570	5.23548	0.408515769337908	0.62094	4.419241	0.999999569992554	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.18	4.18	0.48473	7.879000	0.85694	7.599000	0.61500	0.545000	0.25583	1.000000	0.71638	0.928000	0.28476	0.352000	0.25704	0.0:1.0:0.0:0.0	15.650	0.76836	938	0.14419	IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	613.33	35	chr3	127018321	.	C	T	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=686;ExcessHet=0;FS=1.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.829;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1355	18	0	1	0
chr3	127284446	127284446	C	T	exonic	PRR20G	.	nonsynonymous SNV	PRR20G:NM_001362810:exon3:c.G247A:p.G83S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs180913645	0	8.906e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0038	0.0003	0	0	0	0.0060	0.0008	0	0	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010530114	0.00234	T	.	.	.	.	.	.	.	.	.	0.011852316231535487	0.01145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.032440852	0.03270	0.064482704	0.12930	0.032440852	0.03270	0.064482704	0.12929	-5.577	0.42582	T	.	.	0.161	0.35622	B	.	.	1.223940	0.16181	12.37	0.72997503498293115	0.10170	0.01775	0.05566	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.426310257147131	0.20333	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0533551	0.11823	2.9	-5.79	0.02162	-0.150000	0.10174	-2.388000	0.03816	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1243:0.1734:0.5983:0.104	5.805	0.17697	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	109.78	4	chr3	127284446	.	C	T	109.78	.	AC=2;AF=0.071;AN=28;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2058;MLEAC=2;MLEAF=0.071;MQ=60;QD=27.45;SOR=1.609	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,35	13	1	0	5
chr3	127618065	127618065	C	T	exonic	MCM2	.	nonsynonymous SNV	MCM2:NM_004526:exon12:c.C1997T:p.T666I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0177443855341	.	.	8.303e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756055737	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.232	0.24987	T	0.024	0.19075	B	0.072	0.28043	B	0.000000	0.84330	D	0.089532	1	0.81001	D	1.19	0.30124	L	2.91	0.10008	T	-3.58	0.69118	D	0.29	0.32812	-1.0250	0.22083	T	0.023	0.09787	T	10	0.25601768	0.43001	T	0.017744	0.39556	T	0.076	0.22200	0.463	0.53242	0.324009150485	0.32011	0.5500861612313266	0.54934	0.418664140437	0.42450	0.686828136444	0.65250	T	0.228398	0.59394	T	-0.13856	0.30118	T	-0.436808	0.29166	T	0.799621939659119	0.46327	D	0.981402	0.93712	D	0.5258457	0.68594	0.28101942	0.54081	0.5258457	0.68595	0.28101942	0.54080	-5.545	0.42287	T	0.1323630103709916	0.14105	0.227	0.45883	B	.	.	2.701168	0.35283	19.86	0.99119794836226027	0.52958	0.94606	0.61715	D	AEFDGBHCI	0.645905	0.62163	D	-0.0854221917332155	0.38030	2.221326	0.0833257873600572	0.43709	2.667192	0.999999999988794	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	4.93	0.64394	4.698000	0.61475	3.276000	0.37195	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.855000	0.40485	0.0:0.9177:0.0:0.0823	12.880	0.57404	883	0.28872	MCM domain|MCM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	34	chr3	127618065	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=789;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.5;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,25:95:99:.:.:127,0,1381:.	3	0	16	0
chr3	128904091	128904091	A	C	exonic	ACAD9	.	nonsynonymous SNV	ACAD9:NM_014049:exon10:c.A988C:p.K330Q	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	139957	not_provided|ACAD9-related_disorder|Acyl-CoA_dehydrogenase_9_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.755	.	0.0004	0.00599042	0.0024	0.0003	0	0.0287	0	0.0003	0.0022	0.0007	0.0023027	356	154602	rs79530903	0.0010	0.0010	0.0010	0.0011	0.0283	0.0010	0.0010	0.0269	0.0264	5.974e-05	0.0001	0.0008	0.0283	3.744e-05	0.0003	0.0001	0.0027	0.0007	0.0014	0.0014	0.0015	0.0014	0.0280	0.0013	0.0012	0.0243	0.0229	0.0003	0	0.0012	0.0012	0.0280	9.413e-05	0	0.0003	0.0047	0.0017	0.057	0.37966	T	0.213	0.26467	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.087401	1	0.81001	D	1.635	0.41844	L	-3.98	0.96277	D	-1.99	0.45949	N	0.603	0.62103	0.596	0.91852	D	0.817	0.93819	D	10	0.02150324	0.00516	T	.	.	.	0.755	0.91626	.	.	0.965145438206	0.96477	0.7684427270801581	0.76793	0.762324441734	0.64334	0.550609827042	0.45942	T	0.611206	0.87681	D	-0.0129288	0.49855	T	0.229602	0.84650	D	0.0130155592343673	0.00226	T	0.973503	0.90460	D	0.50635314	0.67467	0.349527	0.60576	0.46380976	0.64908	0.38862124	0.63701	-5.081	0.37706	T	0.23520670162858104	0.31847	0.114	0.22500	B	.	.	4.003199	0.59000	24.0	0.99450291017949533	0.65223	0.98683	0.85537	D	AEFDBI	0.814512	0.73671	D	0.568277464307811	0.71201	5.615133	0.576053489782208	0.73226	5.936122	0.999980362252618	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.550000	0.73804	9.059000	0.78659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	13.373	0.60169	596	0.68392	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2311.33	208	chr3	128904091	.	A	C	2311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=838;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.853;SOR=0.977	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1372	18	0	1	0
chr3	128906229	128906229	C	T	exonic	ACAD9	.	nonsynonymous SNV	ACAD9:NM_014049:exon12:c.C1258T:p.R420C	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	292574	not_provided|Acyl-CoA_dehydrogenase_9_deficiency	MedGen:C3661900|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.891	0.446789579215	0.0002	0.000199681	5.777e-05	9.628e-05	0.0002	0	0	6.011e-05	0	0	5.17e-05	8	154602	rs202147766	6.772e-05	6.772e-05	7.079e-05	6.463e-05	0.0007	5.67e-05	5.261e-05	0.0002	0.0001	5.974e-05	6.708e-05	0	2.519e-05	0	0.0007	7.374e-05	0.0001	0	3.938e-05	3.937e-05	5.137e-05	2.685e-05	7.349e-05	1.714e-05	1.128e-05	2.846e-05	1.858e-05	0	0	6.531e-05	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.045124	1	0.81001	D	4.105	0.97342	H	-4.22	0.96982	D	-7.81	0.95950	D	0.907	0.90818	1.066	0.98474	D	0.966	0.98927	D	10	0.9837326	0.98527	D	0.44679	0.94267	D	0.891	0.96873	.	.	0.992482964149	0.99239	0.9425149098301583	0.94232	0.870746733738	0.69391	0.64967751503	0.59941	T	0.93784	0.99000	D	0.356724	0.86999	D	0.529679	0.95229	D	0.999132692813873	0.96293	D	0.989888	0.96793	D	0.9625511	0.97536	0.8121228	0.89035	0.9625511	0.97536	0.8121228	0.89036	-13.829	0.92488	D	0.9449545960204117	0.97949	0.579	0.68015	P	.	.	5.128641	0.85820	28.7	0.99935474535165836	0.99579	0.86179	0.45410	D	AEFDBI	0.390792	0.46948	N	0.888990409793398	0.91210	10.76935	0.769132794796661	0.87577	9.270833	0.770022450954549	0.23656	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.5	0.54382	2.195000	0.42310	1.419000	0.26347	0.599000	0.40250	0.970000	0.34288	0.732000	0.26423	0.957000	0.51019	0.2013:0.7987:0.0:0.0	12.406	0.54777	597	0.68309	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	35	chr3	128906229	.	C	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=699;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.572;SOR=1.143	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr3	128945414	128945414	C	G	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon9:c.G1042C:p.A348P,CFAP92:NM_001348521:exon10:c.G946C:p.A316P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0112914448186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018505	0.27466	N	0.418229	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9581	0.39534	T	0.180	0.52629	T	9	0.56930995	0.65229	D	0.011291	0.28764	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101624	0.64467	D	-0.0918	0.64025	T	0.901576936244965	0.55433	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.71546	P	.	.	2.395990	0.30777	18.54	0.9950951466453084	0.68558	0.16766	0.19539	N	AEFDBI	0.315815	0.42028	N	-0.122629368680982	0.36408	2.104076	-0.340690527300127	0.26797	1.482594	0.00153027157235599	0.08613	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	1.68	0.23219	0.441000	0.21325	0.224000	0.16109	-0.257000	0.07002	0.071000	0.22100	0.007000	0.19602	0.114000	0.18915	0.1269:0.5816:0.1244:0.167	4.127	0.09602	605	0.67457	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	33	chr3	128945414	.	C	G	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.142;DP=914;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=2.4;SOR=0.797	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr3	128976995	128976995	C	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon5:c.G7A:p.D3N,CFAP92:NM_001348523:exon5:c.G544A:p.D182N,CFAP92:NM_001348521:exon6:c.G7A:p.D3N,CFAP92:NM_020741:exon6:c.G880A:p.D294N,CFAP92:NM_001348522:exon7:c.G544A:p.D182N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00586150795439	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0033	0.0004334	67	154602	rs368155872	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	5.976e-05	0	0	0.0002	0	0.0005	7.917e-05	0.0003	0.0037	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0025	0.009	0.58626	D	0.033	0.53426	D	1.0	0.90584	D	0.889	0.63100	P	0.012237	0.29245	N	0.159885	1	0.08975	N	0.895	0.22405	L	.	.	.	-2.07	0.47344	N	0.165	0.17416	-1.0556	0.12882	T	0.108	0.39246	T	9	0.0072848797	0.00166	T	0.005862	0.15251	T	0.186	0.46104	.	.	0.0611884634855	0.05136	0.02086658751259671	0.02039	0.606121699755	0.55470	0.336169153452	0.15864	T	0.019784	0.15694	T	-0.612042	0.00123	T	-0.653089	0.08739	T	0.0800929932141362	0.09999	T	0.626737	0.24270	T	0.11398242	0.26914	0.08103384	0.18381	0.11398242	0.26913	0.08103384	0.18380	-3.675	0.19112	T	.	.	0.104	0.22609	B	.;.;.;.	.;.;.;.	3.137981	0.42432	21.5	0.99655472667420431	0.77568	0.18441	0.20261	N	AEFBI	0.114375	0.22530	N	-0.0665516235493234	0.38867	2.283013	-0.226826353503049	0.30578	1.722954	2.73897709760963E-4	0.06300	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.63	3.63	0.40741	2.910000	0.48464	3.831000	0.39996	0.549000	0.26987	0.196000	0.24261	0.944000	0.28851	0.003000	0.05239	0.0:1.0:0.0:0.0	11.102	0.47400	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	906.33	36	chr3	128976995	.	C	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=756;ExcessHet=0;FS=0.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.223;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	18	0	1	0
chr3	129001672	129001672	C	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon1:c.C44A:p.A15E,EFCC1:NM_001377501:exon1:c.C44A:p.A15E,EFCC1:NM_024768:exon1:c.C44A:p.A15E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.467839088906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.091e-06	8.224e-06	3.025e-06	3.16e-06	3.869e-06	7.2e-07	4.9e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.52389	D	0.935	0.52277	P	0.693	0.53889	P	0.027204	0.25793	U	0.297853	1	0.81001	D	1.995	0.54099	M	.	.	.	.	.	.	0.177	0.19055	-0.8919	0.48767	T	0.156	0.48790	T	10	0.24058536	0.41220	T	0.467839	0.94627	D	.	.	0.155	0.05858	0.0297737177859	0.01360	0.043447255684841396	0.04289	.	.	0.815758824348	0.84378	D	0.003895	0.03302	T	-0.0820252	0.39386	T	-0.3556	0.38561	T	0.806812926116893	0.46823	D	0.417558	0.11011	T	0.24500819	0.47455	0.4319665	0.66797	0.24500819	0.47455	0.4319665	0.66797	-5.103	0.37939	T	.	.	0.107	0.20117	B	.	.	2.898443	0.38406	20.7	0.98812634535318666	0.46639	0.57125	0.30295	D	AEFDBHCIJ	0.116285	0.22829	N	-0.170884883040074	0.34351	1.959611	-0.314768486850872	0.27621	1.534006	0.999998945647974	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.12	2.12	0.26372	1.386000	0.34025	0.730000	0.21079	0.462000	0.21616	0.659000	0.28251	0.052000	0.21854	0.632000	0.32210	0.0:1.0:0.0:0.0	7.826	0.28478	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1088.33	31	chr3	129001672	.	C	A	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=694;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=1.12;SOR=1.335	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1143	18	0	1	0
chr3	129002130	129002130	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon1:c.G502A:p.E168K,EFCC1:NM_001377501:exon1:c.G502A:p.E168K,EFCC1:NM_024768:exon1:c.G502A:p.E168K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.803151243564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs559054712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.972e-05	1.97e-05	2.571e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.544e-05	0	0	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	0.974	0.57829	D	0.466	0.46637	P	0.000003	0.62929	U	0.000000	0.999703	0.81001	D	2.545	0.74286	M	.	.	.	.	.	.	0.294	0.33250	-0.5605	0.66385	T	0.269	0.64077	T	10	0.30940896	0.48428	T	0.803151	0.98461	D	.	.	0.479	0.55823	0.0297737177859	0.01360	0.3751174565956962	0.37425	.	.	0.976567625999	0.99994	D	0.150765	0.49039	T	-0.0630093	0.42436	T	-0.328285	0.41660	T	0.885902009573266	0.53627	D	0.868313	0.57032	D	0.8137327	0.84801	0.802036	0.88397	0.8137327	0.84802	0.802036	0.88398	-7.014	0.54136	T	.	.	0.779	0.76326	P	.	.	4.813577	0.78331	26.9	0.99872848643559542	0.94989	0.93548	0.58517	D	AEFDBHCI	0.634941	0.61463	D	0.272299460373005	0.54750	3.639798	0.228072714220721	0.51411	3.323853	0.999967594977985	0.48965	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.74	2.82	0.32061	4.016000	0.56871	8.913000	0.78384	0.503000	0.22915	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1975:0.8025:0.0	10.651	0.44842	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	798.33	34	chr3	129002130	.	G	A	798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=728;ExcessHet=0;FS=6.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.804;SOR=1.379	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1143	18	0	1	0
chr3	129034216	129034216	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon5:c.G1339A:p.G447S,EFCC1:NM_024768:exon5:c.G1336A:p.G446S	.	.	.	.	.	.	.	.	.	.	.	2211927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.0111173278485	.	0.000199681	4.944e-05	0	0	0	0.0002	5.997e-05	0	6.056e-05	4.53e-05	7	154602	rs567338824	7.456e-05	7.456e-05	7.759e-05	7.15e-05	8.363e-05	6.315e-05	5.873e-05	6.959e-05	6.454e-05	0	0	0	0	7.488e-05	0	8.363e-05	8.279e-05	8.115e-05	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0002	2.555e-05	1.828e-05	1.972e-05	1.124e-05	2.406e-05	0	6.53e-05	0	0	9.413e-05	0	5.88e-05	0	0.0002	.	.	.	1.0	0.01155	T	0.168	0.28654	B	0.032	0.22131	B	0.313955	0.04032	N	1.493250	1	0.08975	N	0.38	0.12130	N	.	.	.	.	.	.	0.09	0.06854	-1.0282	0.21038	T	0.054	0.22731	T	10	0.025031328	0.00710	T	0.011117	0.28415	T	0.033	0.08068	0.298	0.26362	0.0138822411134	0.00435	0.07400098099341103	0.07337	.	.	0.250974923372	0.03871	T	5.78E-4	0.00232	T	-0.448054	0.01159	T	-0.644706	0.09329	T	0.0299891568720341	0.01988	T	0.511749	0.16382	T	0.03150005	0.03000	0.046562962	0.06516	0.03150005	0.03000	0.046562962	0.06516	-3.505	0.16501	T	.	.	0.072	0.04198	B	.	.	0.190460	0.05766	2.210	0.47550955130232181	0.03897	0.00799	0.03256	N	AEFDBI	0.045842	0.07542	N	-1.38888845535807	0.02741	0.1214899	-1.49851322345166	0.02357	0.1082687	0.99972397590897	0.42220	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.47	-6.32	0.01820	0.116000	0.15393	-0.050000	0.12557	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3134:0.1346:0.552:0.0	7.257	0.25356	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	159.33	33	chr3	129034216	.	G	A	159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=737;ExcessHet=0;FS=79.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.278;SOR=6.183	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	18	0	1	0
chr3	129039837	129039837	G	A	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon8:c.G1789A:p.V597I,EFCC1:NM_024768:exon8:c.G1786A:p.V596I	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00573061592155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212422839	1.514e-05	1.505e-05	1.641e-05	1.385e-05	0.0002	9.91e-06	8.46e-06	2.389e-05	1.262e-05	9.018e-05	0	0	2.544e-05	0	0.0002	1.356e-05	3.336e-05	0	1.314e-05	1.313e-05	1.284e-05	1.346e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.018650	0.27435	N	0.292535	0.999982	0.18198	N	-1.555	0.00461	N	.	.	.	.	.	.	0.115	0.10340	-0.9716	0.36862	T	0.013	0.05225	T	10	0.02670452	0.00831	T	0.005731	0.14862	T	0.045	0.12272	0.133	0.03747	0.0138822411134	0.00435	0.058080122797966836	0.05749	.	.	0.393999516964	0.24231	T	8.15E-4	0.00397	T	-0.490361	0.00647	T	-0.759999	0.03112	T	0.023817831289488	0.01122	T	0.388161	0.09588	T	0.019022882	0.00427	0.0277018	0.00943	0.019022882	0.00427	0.0277018	0.00943	-3.458	0.15849	T	.	.	0.070	0.03552	B	.	.	-0.162824	0.03284	0.564	0.68028183689491362	0.08533	0.08628	0.14530	N	ALL	0.037069	0.05041	N	-1.32760325859248	0.03363	0.150091	-1.12636551832151	0.07199	0.3493067	0.999846329431595	0.43971	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.553173	0.17726	1	.	.	3.94	-0.203	0.12555	0.608000	0.23921	-0.430000	0.09227	-0.962000	0.01975	0.985000	0.35982	0.000000	0.08366	0.057000	0.15750	0.5412:0.2088:0.25:0.0	3.326	0.06654	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2439.33	201	chr3	129039837	.	G	A	2439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=823;ExcessHet=0;FS=9.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.123;SOR=1.261	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr3	129171697	129171697	T	C	exonic	CNBP	.	nonsynonymous SNV	CNBP:NM_001127192:exon2:c.A61G:p.T21A,CNBP:NM_001127193:exon2:c.A61G:p.T21A,CNBP:NM_001127194:exon2:c.A61G:p.T21A,CNBP:NM_001127195:exon2:c.A61G:p.T21A,CNBP:NM_001127196:exon2:c.A61G:p.T21A,CNBP:NM_003418:exon2:c.A61G:p.T21A	Myotonic dystrophy 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1309572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	.	0.0013	0.000998403	0.0027	0.0003	0.0005	0.0001	0.0132	0.0034	0.0022	0.0001	0.0023932	370	154602	rs140065732	0.0019	0.0019	0.0019	0.0019	0.0016	0.0019	0.0018	0.0015	0.0015	0.0001	0.0004	0.0050	0	0.0141	0.0003	0.0016	0.0021	0.0002	0.0026	0.0026	0.0022	0.0031	0.0030	0.0024	0.0023	0.0027	0.0025	0.0003	0	0.0003	0.0049	0.0002	0.0144	0	0.0030	0.0014	0	0.564	0.47320	T	0.57	0.10857	T	0.047	0.29512	B	0.05	0.32463	B	0.000016	0.62929	D	0.153551	0.999996	0.58761	D	0.975	0.24501	L	-1.0	0.76037	T	-0.18	0.21215	N	0.269	0.34981	-0.7370	0.58606	T	0.254	0.62451	T	10	0.009103715	0.00206	T	.	.	.	0.208	0.49714	.	.	0.921627489761	0.92083	0.40961882795662113	0.40877	1.21448580171	0.80910	0.717456459999	0.69676	T	0.198127	0.55501	T	-0.152326	0.27947	T	0.011585	0.71084	D	0.00940018152719962	0.00120	T	0.652935	0.31283	T	0.1466438	0.33560	0.072902076	0.15780	0.10972497	0.25939	0.07556488	0.16649	-6.924	0.56415	T	.	.	0.073	0.22861	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.807518	0.36945	20.4	0.9774257727594784	0.35689	0.97767	0.76985	D	AEFBI	0.669071	0.63663	D	-0.0486080850925516	0.39664	2.342779	0.159911836203351	0.47669	2.993698	0.999999999917143	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	4.633000	0.61016	1.933000	0.29783	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.175	0.65074	385	0.83500	Zinc finger, CCHC-type;Zinc finger, CCHC-type;.;.;.;.;.;Zinc finger, CCHC-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1248.33	40	chr3	129171697	.	T	C	1248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=859;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.717;SOR=0.562	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr3	129252353	129252353	A	C	exonic	COPG1	.	nonsynonymous SNV	COPG1:NM_016128:exon3:c.A163C:p.I55L	.	.	.	.	.	.	.	.	.	.	.	3235536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0060217471161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0097	0.0056	0.0049	0.0064	0.0052	0.0051	0.0063	0.0062	0.0037	0.0003	0.0022	0.0011	0.0001	0.0030	0.0064	0.0038	0.0016	3.286e-05	6.566e-05	3.859e-05	2.688e-05	5.886e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	9.457e-05	0	5.886e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	0.999539	0.47451	D	-0.57	0.02306	N	1.72	0.26588	T	-0.22	0.10480	N	0.403	0.44379	-1.0706	0.09282	T	0.028	0.12058	T	10	0.22875726	0.39787	T	0.006022	0.15728	T	0.130	0.35528	0.772	0.89846	0.265735104816	0.26182	0.5028169752677454	0.50203	0.366017429103	0.38187	0.809481918812	0.83413	D	0.067902	0.33321	T	-0.184249	0.23104	T	-0.502438	0.22094	T	0.347409278154373	0.26917	T	0.816718	0.47282	T	0.2182684	0.44330	0.12141374	0.29295	0.2182684	0.44330	0.12141374	0.29295	-4.394	0.29475	T	.	.	0.073	0.04847	B	.	.	2.886678	0.38214	20.7	0.76156090026892409	0.11355	0.91759	0.54203	D	AEBCI	0.618301	0.60416	D	-0.372133318062997	0.26466	1.444651	-0.127561790552725	0.34283	1.970341	0.999999548183057	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	6.116000	0.71264	6.964000	0.57067	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	12.737	0.56601	508	0.75398	Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.33	34	chr3	129252353	.	A	C	36.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.576;DP=786;ExcessHet=0;FS=71.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.357;SOR=6.593	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr3	129428450	129428450	C	G	exonic	EFCAB12	.	nonsynonymous SNV	EFCAB12:NM_207307:exon1:c.G39C:p.L13F	.	432	1087	3	0	0	3	0.00137804	.	.	.	2747142	Autism	Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00228224964611	8e-05	0.000599042	0.0003	0	0	0	0	0	0	0.0020	0.0002005	31	154602	rs370961897	0.0001	0.0001	7.502e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	4.527e-05	0	2.524e-05	0	0.0005	1.711e-05	0.0002	0.0017	9.189e-05	9.187e-05	3.854e-05	0.0001	0.0019	5.522e-05	4.36e-05	0.0010	0.0007	2.405e-05	0	6.531e-05	0	0	0	0	2.94e-05	0.0005	0.0019	0.15	0.24661	T	0.229	0.25210	T	0.815	0.45525	P	0.235	0.38432	B	0.059399	0.02121	N	2.308720	1	0.08975	N	0.895	0.22405	L	2.38	0.15843	T	-0.67	0.19297	N	0.119	0.10911	-1.0238	0.22476	T	0.034	0.14464	T	10	0.007913053	0.00180	T	0.002282	0.04369	T	0.054	0.15330	.	.	0.136095386433	0.13204	0.07453405773748568	0.07389	0.15491243362	0.17493	0.260771751404	0.04983	T	0.004292	0.03699	T	-0.588059	0.00172	T	-0.64211	0.09516	T	0.0446557412442209	0.04539	T	0.471653	0.14010	T	0.09396653	0.22081	0.09225217	0.21731	0.09396653	0.22080	0.09225217	0.21731	-4.871	0.35407	T	.	.	0.080	0.08368	B	.;.	.;.	2.066600	0.26282	17.06	0.70981573759761241	0.09475	0.60647	0.31255	D	ALL	0.118034	0.23097	N	-0.449034908322672	0.23772	1.278993	-0.535376430125765	0.21195	1.14545	0.999999999981504	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.53	3.53	0.39533	0.378000	0.20298	0.174000	0.15553	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.612000	0.31691	0.0:1.0:0.0:0.0	10.854	0.45995	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2983.33	34	chr3	129428450	.	C	G	2983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.671;DP=868;ExcessHet=0;FS=0.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.205;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	18	0	1	0
chr3	129431542	129431542	C	G	exonic	MBD4	.	nonsynonymous SNV	MBD4:NM_001276273:exon7:c.G748C:p.D250H,MBD4:NM_001276270:exon8:c.G1684C:p.D562H,MBD4:NM_003925:exon8:c.G1702C:p.D568H	.	424	1065	32	1	0	34	0.0157116	.	.	.	215269	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	.	0.0044	0.00419329	0.0054	0.0012	0.0041	0	0.0005	0.0062	0.0110	0.0101	0.001022	158	154602	rs2307293	0.0074	0.0074	0.0072	0.0076	0.0110	0.0073	0.0072	0.0104	0.0102	0.0013	0.0034	0.0083	2.521e-05	0.0005	0.0068	0.0080	0.0078	0.0110	0.0052	0.0052	0.0056	0.0049	0.0118	0.0049	0.0048	0.0094	0.0085	0.0011	0.0307	0.0048	0.0104	0.0002	0.0005	0.0068	0.0078	0.0085	0.0118	0.005	0.68238	D	0.03	0.54159	D	0.997	0.73220	D	0.957	0.75793	D	0.000069	0.52346	D	0.164390	0.963902	0.81001	D	1.905	0.50856	L	0.98	0.42122	T	-3.18	0.75456	D	0.178	0.39254	-0.7362	0.58647	T	0.131	0.44129	T	10	0.009672582	0.00218	T	.	.	.	0.178	0.44724	.	.	0.458283960492	0.45451	0.7266496205129804	0.72608	0.54536870506	0.51572	0.430127859116	0.29226	T	0.518784	0.83131	D	-0.37689	0.03259	T	-0.306477	0.44037	T	0.0162388160515095	0.00397	T	0.922508	0.71813	D	0.60559386	0.72992	0.42838448	0.66553	0.60559386	0.72993	0.42838448	0.66554	-10.301	0.75694	D	.	.	0.393	0.59160	A	.;.;.	.;.;.	4.924803	0.81138	27.5	0.99247647619537593	0.56759	0.92127	0.55004	D	AEFBI	0.304100	0.41189	N	0.282336914429471	0.55252	3.689473	0.270801018861921	0.53840	3.551252	0.999733706754032	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	1.404000	0.34232	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7638:0.0:0.2362	8.707	0.33524	442	0.79946	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.008621	0.015244	0.011364	0.02632	1116.33	34	chr3	129431542	.	C	G	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.115;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.715;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr3	129464694	129464694	G	-	exonic	IFT122	.	frameshift deletion	IFT122:NM_052990:exon5:c.320delG:p.N108Tfs*8,IFT122:NM_001280546:exon6:c.26delG:p.N10Tfs*8,IFT122:NM_018262:exon7:c.476delG:p.N160Tfs*8,IFT122:NM_052989:exon7:c.476delG:p.N160Tfs*8,IFT122:NM_001280541:exon8:c.629delG:p.N211Tfs*8,IFT122:NM_001280545:exon8:c.26delG:p.N10Tfs*8,IFT122:NM_052985:exon8:c.629delG:p.N211Tfs*8	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2091.29	37	chr3	129464693	.	CG	C	2091.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-1.403;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr3	129464697	129464698	AC	-	exonic	IFT122	.	frameshift deletion	IFT122:NM_052990:exon5:c.323_324del:p.N108Kfs*32,IFT122:NM_001280546:exon6:c.29_30del:p.N10Kfs*32,IFT122:NM_018262:exon7:c.479_480del:p.N160Kfs*32,IFT122:NM_052989:exon7:c.479_480del:p.N160Kfs*40,IFT122:NM_001280541:exon8:c.632_633del:p.N211Kfs*32,IFT122:NM_001280545:exon8:c.29_30del:p.N10Kfs*40,IFT122:NM_052985:exon8:c.632_633del:p.N211Kfs*40	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2088.29	37	chr3	129464696	.	AAC	A	2088.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.518;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-1.381;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr3	129476757	129476757	G	A	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon8:c.G770A:p.S257N,IFT122:NM_001280546:exon9:c.G476A:p.S159N,IFT122:NM_018262:exon10:c.G926A:p.S309N,IFT122:NM_001280541:exon11:c.G1079A:p.S360N,IFT122:NM_052989:exon11:c.G1103A:p.S368N,IFT122:NM_001280545:exon12:c.G653A:p.S218N,IFT122:NM_052985:exon12:c.G1256A:p.S419N	Cranioectodermal dysplasia 1, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	191289	Connective_tissue_disorder|not_specified|not_provided|Cranioectodermal_dysplasia_1|Rod-cone_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0012	0.00559105	0.0032	0.0003	0.0003	0.0139	0.0003	0.0016	0	0.0092	0.0030207	467	154602	rs150550701	0.0022	0.0022	0.0019	0.0024	0.0087	0.0021	0.0021	0.0082	0.0080	0.0003	0.0006	0.0001	0.0084	0.0003	0.0012	0.0017	0.0020	0.0087	0.0016	0.0016	0.0013	0.0019	0.0141	0.0015	0.0014	0.0115	0.0105	0.0002	0	0.0003	0	0.0141	0.0002	0	0.0017	0.0014	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.001	0.12996	B	0.003	0.10090	B	0.000000	0.84330	D	0.044612	0.999942	0.51968	D	-0.63	0.02141	N	0.44	0.59449	T	2.39	0.00694	N	0.251	0.39153	-1.0102	0.26854	T	0.048	0.20474	T	10	0.0068077445	0.00155	T	.	.	.	0.104	0.29647	.	.	0.627901115463	0.62486	0.21813654603121127	0.21729	0.197538282878	0.22128	0.774731636047	0.78133	T	0.109141	0.42277	T	-0.554756	0.00273	T	-0.557969	0.16568	T	0.0168030649433126	0.00435	T	0.746025	0.45053	T	0.18376361	0.39659	0.12710655	0.30603	0.18210562	0.39413	0.15228488	0.35834	-4.035	0.35088	T	0.0331516724954932	0.00137	0.125	0.32445	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.637585	0.34311	19.59	0.20858519992147853	0.00769	0.91270	0.53196	D	AEFBI	0.350599	0.44399	N	-0.428437218003848	0.24476	1.321901	-0.140962237781974	0.33758	1.93443	0.998653122759032	0.37392	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	4.77	0.60425	2.768000	0.47329	5.016000	0.46707	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0724:0.0:0.9276:0.0	14.007	0.63984	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	3938.83	33	chr3	129476757	.	G	A	3938.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.54;DP=937;ExcessHet=0.119;FS=0.4;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.114;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1304	17	0	2	0
chr3	129560431	129560431	G	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon31:c.C5032A:p.L1678M	.	409	1105	8	0	0	8	0.00360685	.	.	.	720149	not_provided|PLXND1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00199681	0.0015	0	0	0	0	8.035e-05	0	0.0103	0.0012031	186	154602	rs200252007	0.0006	0.0006	0.0004	0.0009	0.0094	0.0006	0.0006	0.0089	0.0087	2.995e-05	0	0	2.521e-05	0	0.0021	2.797e-05	0.0007	0.0094	0.0002	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0070	0.173	0.22573	T	0.171	0.30339	T	0.998	0.73220	D	0.977	0.73820	D	0.000402	0.44736	D	0.090405	0.99973	0.48635	D	1.445	0.36358	L	2.7	0.12162	T	-0.23	0.10656	N	0.53	0.55886	-1.1273	0.01916	T	0.077	0.30676	T	10	0.015358686	0.00322	T	.	.	.	0.109	0.30843	0.404	0.43573	0.403154071476	0.39927	0.23408618568868378	0.23323	1.59034253558	0.88517	0.57325220108	0.49137	T	0.135491	0.46734	T	-0.482775	0.00713	T	-0.458287	0.26785	T	0.0586171622835817	0.06948	T	0.830517	0.49623	T	0.10721294	0.25350	0.081668586	0.18579	0.10721294	0.25350	0.081668586	0.18579	-5.925	0.45647	T	.	.	0.104	0.18910	B	.	.	3.790264	0.54550	23.5	0.99334023082782341	0.59895	0.97888	0.77885	D	AEFDBI	0.739431	0.68399	D	0.240604195838506	0.53176	3.487708	0.186416695521506	0.49101	3.117522	0.999999694555698	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.85	3.94	0.44807	3.460000	0.52793	3.992000	0.40997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0862:0.0:0.9138:0.0	12.263	0.53977	517	0.74620	Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003027	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	151.33	34	chr3	129560431	.	G	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=625;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=2.44;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:81:0,81,1215	18	0	1	0
chr3	129575841	129575841	C	G	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon10:c.G2361C:p.E787D	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0226215720311	.	.	9.213e-06	0	0	0	0	0	0	6.806e-05	6.5e-06	1	154602	rs779593197	3.426e-06	3.42e-06	5.455e-06	1.377e-06	3.485e-05	1e-06	7.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	1.802e-06	0	3.485e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.22	0.25907	T	0.22	0.30288	B	0.074	0.28220	B	0.000491	0.00618	N	3.510990	0.999274	0.46519	D	1.04	0.26193	L	1.21	0.37230	T	-1.64	0.39314	N	0.2	0.22098	-1.0415	0.16860	T	0.102	0.37793	T	10	0.23592371	0.40662	T	0.022622	0.45526	T	0.069	0.20116	0.583	0.70990	0.418401263072	0.41457	0.6837841910342137	0.68317	0.267880577552	0.29325	0.429571211338	0.29149	T	0.182102	0.53400	T	-0.253738	0.13642	T	-0.501624	0.22179	T	0.155620163630831	0.17542	T	0.623338	0.24021	T	0.10994835	0.25992	0.10698891	0.25750	0.10994835	0.25992	0.10698891	0.25749	-5.755	0.44180	T	.	.	0.394	0.59262	A	.	.	1.352174	0.17601	13.26	0.98627238995677002	0.43866	0.69500	0.34212	D	AEFDBHCI	0.260353	0.37851	N	-0.637093284115143	0.17838	0.9213211	-0.661102565348029	0.17937	0.9559903	0.99999688052817	0.74766	0.67177	0.52595	0	0.578056	0.33634	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	3.96	0.963	0.18769	-0.167000	0.09928	-0.401000	0.09410	0.599000	0.40250	0.873000	0.30851	0.093000	0.22564	0.969000	0.54022	0.0:0.6095:0.0:0.3905	7.518	0.26779	544	0.72685	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1614.33	34	chr3	129575841	.	C	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.42;SOR=0.652	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr3	129977137	129977137	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G650A:p.S217N	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00590662224223	.	0.000199681	3.673e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs551488413	2.454e-05	2.737e-05	1.137e-05	3.811e-05	0.0004	1.766e-05	1.558e-05	0.0003	0.0003	3.276e-05	0	0	0	0	0	0	1.758e-05	0.0004	1.977e-05	1.971e-05	0	4.044e-05	0.0006	5.26e-06	2.46e-06	0.0002	9.047e-05	0	0	0	0	0	0	0	0	0	0.0006	0.352	0.13971	T	0.41	0.15059	T	0.808	0.45299	P	0.299	0.41006	B	0.000130	0.49741	D	0.180572	0.89883	0.27741	N	1.525	0.38595	L	0.8	0.48769	T	-0.61	0.18042	N	0.095	0.08786	-1.0485	0.14818	T	0.083	0.32671	T	10	0.06545794	0.08833	T	0.005907	0.15400	T	0.063	0.18251	0.301	0.26843	0.617599811619	0.61451	0.139879571752777	0.13910	0.281042322189	0.30577	0.676942586899	0.63831	T	0.285243	0.65803	T	-0.499538	0.00575	T	-0.655005	0.08607	T	0.109420172870159	0.13363	T	0.616838	0.24459	T	0.09470554	0.22273	0.09858834	0.23509	0.09470554	0.22272	0.09858834	0.23508	-5.455	0.41445	T	.	.	0.235	0.46881	B	.;.	.;.	1.639318	0.20925	14.97	0.95897601513213715	0.28120	0.44801	0.27398	N	AEFDBI	0.056015	0.10321	N	-0.299109901562314	0.29182	1.616095	-0.345026839409814	0.26663	1.474215	0.636628074678971	0.22015	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.81	2.99	0.33673	1.224000	0.32142	4.082000	0.41745	0.590000	0.31872	0.957000	0.33433	1.000000	0.68203	0.002000	0.04165	0.098:0.1785:0.7235:0.0	6.793	0.22894	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1628.33	59	chr3	129977137	.	G	A	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=1681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.125;SOR=0.643	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28,COL6A5:NM_153264:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	545.79	48	chr3	130421333	.	AGGAT	A	545.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.13;DP=765;ExcessHet=0.119;FS=88.032;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=1.21;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1072:.	17	0	2	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	540.41	48	chr3	130421334	.	G	C	540.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1072:.	15	0	4	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	540.41	48	chr3	130421334	.	G	*	540.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1072:.	17	0	2	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0:34:0:.:.:0,0,337:.	10	0	6	3
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0:34:0:.:.:0,0,337:.	9	0	7	3
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	5712.42	63	chr3	130421335	.	G	*	5712.42	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0:34:0:.:.:0,0,337:.	14	0	2	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:38,0:38:0:.:.:0,0,722:.	3	0	13	3
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6329.56	63	chr3	130421337	.	T	*	6329.56	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:38,0:38:0:.:.:0,0,722:.	14	0	2	3
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10,COL6A5:NM_153264:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2384.72	56	chr3	130421338	.	T	TCACC	2384.72	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.854;DP=1150;ExcessHet=8.9063;FS=144.438;InbreedingCoeff=-0.485;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.37;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:29:.:.:0,29,889:.	14	0	2	3
chr3	130426383	130426383	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon31:c.G5216C:p.R1739P,COL6A5:NM_153264:exon31:c.G5216C:p.R1739P	.	0	225	1	0	0	1	0.00221729	.	.	.	3657384	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.434	0.0586823569898	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs748298425	2.216e-05	2.121e-05	7.052e-06	3.768e-05	0.0004	1.588e-05	1.384e-05	0.0003	0.0002	0	0	0	0	0	0	2.781e-06	0	0.0004	1.974e-05	1.97e-05	3.856e-05	0	0.0002	5.25e-06	2.46e-06	.	.	0	0	6.563e-05	0	0	0	0	1.47e-05	0	0.0002	0.016	0.51853	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999981	0.18198	N	.	.	.	-2.5	0.89219	D	-1.41	0.34795	N	0.521	0.55106	-0.5574	0.66503	T	0.491	0.80648	T	9	0.16502017	0.30857	T	0.058682	0.67403	D	0.434	0.73951	0.475	0.55182	0.226586394389	0.22295	0.9175539045798963	0.91730	0.0693334402013	0.07761	0.210284054279	0.00824	T	0.028097	0.20428	T	-0.174308	0.24587	T	-0.198015	0.54835	T	0.0477731833670029	0.05103	T	0.631037	0.24617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.52630	B	.	.	1.734593	0.22072	15.47	0.89334638407644573	0.18708	0.04185	0.09687	N	AEFBI	0.220285	0.34506	N	-1.20160443873227	0.04977	0.2258303	-1.19512107019841	0.05991	0.2870464	0.0191775038044251	0.13136	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.95	-0.252	0.12357	0.109000	0.15252	0.983000	0.23138	-0.961000	0.01979	0.001000	0.13787	0.026000	0.21063	0.237000	0.22922	0.7394:0.0:0.2606:0.0	8.575	0.32755	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1565.33	36	chr3	130426383	.	G	C	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=803;ExcessHet=0;FS=3.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.857;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1378	18	0	1	0
chr3	130471687	130471687	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon40:c.T7580C:p.L2527P	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	.	0.0263578	0.0285	0.0109	0.0160	0.0657	0	0.0006	0	0.0428	0.0037645	582	154602	rs79145375	0.0054	0.0051	0.0043	0.0065	0.0483	0.0053	0.0053	0.0464	0.0457	0.0160	0.0021	0	0.0483	0.0248	0.0044	0.0003	0.0092	0.0431	0.0099	0.0099	0.0087	0.0111	0.0468	0.0095	0.0093	0.0420	0.0401	0.0163	0	0.0037	0	0.0468	0.0224	0	0.0010	0.0071	0.0438	0.003	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999514	0.21065	N	.	.	.	-1.29	0.79475	T	-2.17	0.49018	N	0.19	0.20793	-0.6062	0.64560	T	0.230	0.59571	T	8	0.0027344525	0.00043	T	.	.	.	0.177	0.44549	.	.	.	.	0.425289673021384	0.42445	0.041224094407	0.04422	0.503200650215	0.39274	T	0.011191	0.16015	T	-0.44479	0.01212	T	-0.375181	0.36285	T	0.00969623317858612	0.00127	T	0.324568	0.07525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.47827	B	.;.;.	.;.;.	1.140838	0.15283	11.73	0.96755206101889679	0.30976	0.14460	0.18415	N	AEFI	0.145076	0.26819	N	-0.670072565404082	0.16878	0.863785	-0.66580335578034	0.17819	0.9491404	1.33745527043954E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	0.531000	0.22759	1.420000	0.26356	0.609000	0.47794	0.541000	0.27275	0.964000	0.29435	0.041000	0.14368	0.0:0.2822:0.0:0.7178	7.354	0.25882	380	0.83728	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2298.83	107	chr3	130471687	.	T	C	2298.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.197;DP=809;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.96;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	17	0	2	0
chr3	130565231	130565231	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.C899T:p.S300F	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0496727804386	.	.	8.282e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs746495709	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0002	6.16e-06	4.89e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.0	0.92824	D	0.939	0.52645	P	0.602	0.50862	P	0.004508	0.33669	N	0.212364	0.999988	0.18198	N	2.98	0.85499	M	-1.24	0.78967	T	-4.74	0.80172	D	0.372	0.41360	-0.2048	0.77546	T	0.521	0.82119	D	10	0.43955112	0.58012	T	0.049673	0.63915	D	0.356	0.67691	0.466	0.53729	0.543910352347	0.54045	0.552486893211384	0.55174	0.329062908688	0.35019	0.347632408142	0.17573	T	0.232816	0.59947	T	-0.0695311	0.41403	T	-0.240799	0.50720	T	0.966296434402466	0.67537	D	0.70043	0.31009	T	0.5300451	0.68833	0.43129534	0.66752	0.5300451	0.68834	0.43129534	0.66752	-5.276	0.39705	T	.	.	0.103	0.18414	B	.	.	3.339113	0.46004	22.2	0.99764934210856637	0.85417	0.57620	0.30425	D	AEFBI	0.311882	0.41748	N	0.0837804001301322	0.45708	2.822756	-0.0759137004909552	0.36388	2.11704	0.981589674939926	0.30283	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.8	4.8	0.61157	0.987000	0.29203	3.979000	0.40889	0.599000	0.40250	0.000000	0.06391	0.997000	0.33255	0.029000	0.12982	0.0:1.0:0.0:0.0	17.817	0.88548	659	0.61982	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1840.33	33	chr3	130565231	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=798;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.631;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	18	0	1	0
chr3	130661991	130661991	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6185A:p.G2062D	.	427	1094	1	0	0	1	0.00045683	.	.	.	2284897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.644	0.047430954349	8.3e-05	.	8.286e-05	0	0	0	0	7.494e-05	0	0.0003	6.47e-05	10	154602	rs372431409	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	0	0	0.0001	0	0	0.0010	2.428e-05	9.938e-05	0.0004	5.257e-05	5.254e-05	6.425e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	9.429e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	0.931995	0.37007	D	3.155	0.88459	M	-2.03	0.85613	D	-5.95	0.89152	D	0.913	0.91505	0.721	0.93438	D	0.756	0.91675	D	9	0.9451467	0.93839	D	0.047431	0.62920	D	0.644	0.86485	.	.	0.665750352487	0.66293	0.5739850754486059	0.57327	0.409156735794	0.41733	0.550466656685	0.45923	T	0.447486	0.78973	T	-0.0188773	0.49012	T	0.0396552	0.72905	D	0.824996829032898	0.48146	D	0.941906	0.78301	D	0.7146814	0.78866	0.7352693	0.84354	0.7146814	0.78867	0.7352693	0.84355	-12.831	0.88654	D	.	.	0.916	0.83930	P	.	.	4.695326	0.75284	26.3	0.99725833786828255	0.82406	0.87275	0.46765	D	AEFBI	0.498742	0.53272	N	0.5554910787063	0.70419	5.498476	0.455725821692303	0.65087	4.779376	0.462217057372942	0.20634	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.17	0.70848	4.711000	0.61570	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0679:0.13:0.8021:0.0	11.924	0.52089	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2090.33	33	chr3	130661991	.	G	A	2090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=811;ExcessHet=0;FS=0.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.285;SOR=0.632	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1384	18	0	1	0
chr3	130665069	130665069	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon35:c.C6569T:p.P2190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0155537792771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.11586	T	0.185	0.28958	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.39	0.88377	D	-0.33	0.12472	N	0.108	0.09349	-0.6969	0.60586	T	0.413	0.76081	T	9	0.05368513	0.05599	T	0.015554	0.36344	T	0.084	0.24469	0.358	0.36060	0.255777322467	0.25185	0.04674379345673704	0.04617	0.0575164109144	0.06368	0.231086194515	0.02049	T	0.024945	0.18750	T	-0.161122	0.26589	T	-0.469217	0.25599	T	0.020212008614129	0.00721	T	0.537446	0.18074	T	0.023203133	0.01041	0.03700556	0.03263	0.023203133	0.01041	0.03700556	0.03263	-2.958	0.09736	T	.	.	0.073	0.04847	B	.	.	0.265188	0.06434	2.904	0.085102785543520465	0.00068	0.02557	0.07090	N	AEFBI	0.052196	0.09292	N	-1.08619753144259	0.06897	0.3188141	-1.10157931381415	0.07670	0.3740076	0.00287514683131839	0.09767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	-0.811	0.10310	-0.245000	0.08908	-1.347000	0.05657	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4981:0.0:0.5019	9.050	0.35534	446	0.79659	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	45	chr3	130665069	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=761;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=2.05;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	130718421	130718421	G	C	exonic	PIK3R4	.	nonsynonymous SNV	PIK3R4:NM_014602:exon8:c.C2095G:p.L699V	.	418	1103	1	0	0	1	0.000453104	.	.	.	697835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0003	0.00579073	0.0039	9.61e-05	0.0063	0.0238	0.0181	0.0011	0.0055	6.058e-05	0.0034799	538	154602	rs56369596	0.0017	0.0017	0.0017	0.0016	0.0236	0.0016	0.0016	0.0224	0.0219	2.988e-05	0.0050	0	0.0236	0.0189	0	0.0001	0.0019	6.957e-05	0.0025	0.0025	0.0017	0.0034	0.0251	0.0023	0.0022	0.0216	0.0202	2.407e-05	0	0.0016	0	0.0251	0.0180	0	0.0005	0.0019	0.0002	0.098	0.56456	T	0.22	0.92824	T	0.989	0.62824	D	0.729	0.55225	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	1.66	0.47130	T	-1.25	0.35991	N	0.775	0.77226	-1.0287	0.20876	T	0.095	0.35765	T	10	0.0046711564	0.00098	T	.	.	.	0.181	0.45247	.	.	0.503490013456	0.49987	0.6591278423793836	0.65849	0.809278591952	0.66664	0.598607182503	0.52708	T	0.033954	0.23124	T	-0.184325	0.23093	T	-0.0159174	0.69297	D	0.0359620509607352	0.02974	T	0.921408	0.76326	D	0.17825238	0.38835	0.169659	0.39016	0.17825238	0.38834	0.169659	0.39016	-7.255	0.55875	T	.	.	0.133	0.33156	B	.;.;.;.	.;.;.;.	3.996445	0.58859	24.0	0.99824963748688356	0.90764	0.98971	0.89357	D	AEFBI	0.868853	0.78915	D	0.535440523272507	0.69200	5.323483	0.591350708838586	0.74319	6.116698	0.999999999814032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	5.46	0.80021	7.728000	0.83805	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.297	0.94114	396	0.82953	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2659.33	245	chr3	130718421	.	G	C	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.696;DP=886;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.993;SOR=0.553	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1391	18	0	1	0
chr3	131184732	131184732	A	G	exonic	NEK11	.	nonsynonymous SNV	NEK11:NM_001321223:exon14:c.A1430G:p.Y477C	.	443	1067	12	0	0	12	0.0055918	.	.	.	2824936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.103	.	.	0.000998403	0.0054	0	0	0	0.0208	0.0075	0	0.0051	0.0009767	151	154602	rs180926777	0.0025	0.0026	0.0025	0.0026	0.0064	0.0025	0.0024	0.0046	0.0040	0.0002	0.0016	0.0009	0	0.0018	0.0064	0.0027	0.0029	0.0018	0.0024	0.0024	0.0028	0.0021	0.0045	0.0022	0.0022	0.0041	0.0040	0.0004	0	0.0012	0	0	0.0008	0.0034	0.0045	0.0033	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.57	0.71307	T	-1.39	0.34397	N	0.251	0.28381	-0.9322	0.43814	T	0.176	0.52021	T	8	0.0051582754	0.00112	T	.	.	.	0.103	0.29403	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	.	.	.	-0.505252	0.00534	T	-0.495089	0.22859	T	0.01677787154233	0.00433	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	-3.461	0.15890	T	.	.	0.085	0.10014	B	.	.	0.014632	0.04385	1.133	0.96811363837201414	0.31187	0.01198	0.04275	N	AEFBI	0.046139	0.07627	N	-1.09320624012412	0.06767	0.3124868	-1.22577292787335	0.05499	0.262161	9.03701400337986E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.39	-1.61	0.07951	-0.472000	0.06702	-0.163000	0.11303	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.3825:0.2549:0.3626:0.0	2.974	0.05571	699	0.57969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1325.33	34	chr3	131184732	.	A	G	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=743;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.524;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	18	0	1	0
chr3	132601191	132601191	T	C	exonic	ACKR4	.	nonsynonymous SNV	ACKR4:NM_178445:exon1:c.T794C:p.I265T,ACKR4:NM_016557:exon2:c.T794C:p.I265T	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0162901373016	0.0026	.	0.0024	0.0012	0.0012	0.0003	0.0024	0.0031	0.0011	0.0024	0.0003074	8	26028	rs145975679	0.0034	0.0034	0.0034	0.0033	0.0038	0.0033	0.0032	0.0037	0.0037	0.0004	0.0016	0.0015	7.56e-05	0.0030	0.0009	0.0038	0.0030	0.0026	0.0023	0.0023	0.0023	0.0022	0.0035	0.0021	0.0020	0.0029	0.0028	0.0012	0.0011	0.0011	0.0014	0.0002	0.0024	0.0034	0.0033	0.0019	0.0035	0.337	0.12837	T	0.097	0.39190	T	0.351	0.33667	B	0.197	0.36707	B	0.000231	0.47286	D	0.241583	1	0.81001	D	1.575	0.39704	L	1.14	0.38397	T	-2.33	0.51646	N	0.347	0.38848	-1.0917	0.05254	T	0.063	0.26136	T	10	0.015879035	0.00334	T	0.01629	0.37474	T	0.171	0.43483	.	.	0.566480848757	0.56312	0.3048211868356733	0.30395	.	.	0.411705493927	0.26693	T	0.080811	0.36453	T	-0.418002	0.01762	T	-0.375628	0.36232	T	0.017670769943331	0.00499	T	0.884412	0.60756	D	0.13303593	0.30958	0.14656669	0.34719	0.13303593	0.30957	0.14656669	0.34718	-4.083	0.25039	T	.	.	0.161	0.35519	B	.	.	3.890665	0.56604	23.8	0.98571271472234245	0.43115	0.99283	0.93924	D	AEFGI	0.829490	0.74839	D	-0.18745308337415	0.33655	1.911929	-0.0319963128446853	0.38279	2.252939	0.999999975425141	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	5.42	4.24	0.49486	4.805000	0.62253	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1329:0.0:0.0:0.8671	11.676	0.50694	831	0.39019	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001832	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.008333	0.02632	3026.33	33	chr3	132601191	.	T	C	3026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.557;DP=859;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.82;MQRankSum=-0.716;QD=13.69;ReadPosRankSum=-0.408;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	18	0	1	0
chr3	132661022	132661022	A	T	exonic	UBA5	.	startloss	UBA5:NM_001321238:exon1:c.A1T:p.M1?	Epileptic encephalopathy, early infantile, 44, Autosomal recessive	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273684442	1.613e-06	3.42e-06	1.586e-06	1.642e-06	1.012e-06	2.7e-07	1e-07	.	.	0	0	0	0	0	0	1.012e-06	2.049e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.18198	N	.	.	.	.	.	.	-1.91	0.44471	N	.	.	-0.9517	0.40678	T	0.090	0.34655	T	5	0.34197617	0.51237	T	.	.	.	0.098	0.28162	0.668	0.80602	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.0330514	0.46973	T	-0.260072	0.48817	T	0.181380183018214	0.19322	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.046218	0.03975	0.896	0.63989409519199902	0.07371	0.01528	0.05033	N	AEFDGBHCI	0.011511	0.00103	N	-0.751709458244778	0.14587	0.7278707	-0.983611820774777	0.10153	0.5095631	0.999994095773244	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.043771	0.00183	3	0.249971	0.05119	0	.	.	3.05	-2.49	0.06034	-1.084000	0.03503	-0.309000	0.10054	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.3983:0.2035:0.3982:0.0	4.088	0.09432	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.33	39	chr3	132661022	.	A	T	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=714;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.613;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1287	18	0	1	0
chr3	132722196	132722198	CTG	-	exonic	NPHP3	.	nonframeshift deletion	NPHP3:NM_153240:exon1:c.158_160del:p.A53del	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive	8	1511	3	0	0	3	0.000991736	.	.	.	493749	Retinal_dystrophy|NPHP3-related_Meckel-like_syndrome|Renal-hepatic-pancreatic_dysplasia_1|Nephronophthisis_3|not_provided|Nephronophthisis	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009966,MedGen:C2673885,OMIM:267010,Orphanet:3032|MONDO:MONDO:0008833,MedGen:C3715199,OMIM:208540|MONDO:MONDO:0011456,MedGen:C1858392,OMIM:604387,Orphanet:655|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	4.931e-05	0	0.0002	2.59e-05	4	154602	rs766573820	3.173e-05	3.01e-05	3.065e-05	3.283e-05	0.0004	2.391e-05	2.125e-05	8.129e-05	6.315e-05	0	3.221e-05	0	0	0	0.0004	2.62e-05	1.776e-05	0.0001	2.631e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.943e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	889.29	33	chr3	132722195	.	CCTG	C	889.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=692;ExcessHet=0;FS=11.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.563;SOR=1.521	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr3	132722337	132722337	G	C	exonic	NPHP3	.	nonsynonymous SNV	NPHP3:NM_153240:exon1:c.C19G:p.L7V	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.96855461011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.50676	D	0.033	0.92824	D	0.451	0.36091	B	0.112	0.31615	B	0.000294	0.46274	D	0.089231	0.994696	0.42380	D	0.695	0.17993	N	-3.18	0.93111	D	-0.18	0.40274	N	0.358	0.52208	-0.3177	0.74486	T	0.543	0.83185	D	10	0.3639266	0.52950	T	0.968555	0.99806	D	0.248	0.55615	0.193	0.10437	0.79156988546	0.78963	0.45654433021310153	0.45572	0.28891512826	0.31300	0.906275808811	0.97106	D	0.148213	0.48666	T	0.126815	0.67050	D	-0.0556158	0.66637	D	0.329304069280624	0.26196	T	0.90181	0.65830	D	0.4969813	0.66917	0.29475403	0.55506	0.4969813	0.66918	0.29475403	0.55505	-2.691	0.14417	T	0.3939016366476133	0.48669	0.120	0.48521	B	.;.	.;.	2.888470	0.38249	20.7	0.99020690815289625	0.50569	0.74324	0.36358	D	ALL	0.264488	0.38182	N	-0.568644516740783	0.19902	1.045263	-0.576364074271323	0.20111	1.081993	0.999999812971179	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.58	1.71	0.23429	1.791000	0.38377	4.171000	0.42274	0.509000	0.23192	0.982000	0.35529	1.000000	0.68203	0.183000	0.21389	0.2795:0.0:0.7205:0.0	8.318	0.31272	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	948.33	43	chr3	132722337	.	G	C	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.979;DP=730;ExcessHet=0;FS=2.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.687;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr3	133655431	133655431	G	A	exonic	TOPBP1	.	nonsynonymous SNV	TOPBP1:NM_001363889:exon6:c.C601T:p.L201F,TOPBP1:NM_007027:exon6:c.C601T:p.L201F	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00685007232673	8.4e-05	0.00179712	0.0013	0.0001	0	0.0001	0	0	0.0011	0.0091	0.0011061	171	154602	rs374437816	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0	2.393e-05	0	2.582e-05	0	0.0007	3.621e-06	0.0008	0.0083	0.0003	0.0003	7.714e-05	0.0006	0.0087	0.0002	0.0002	0.0066	0.0059	9.632e-05	0	0	0	0	0	0	0	0.0005	0.0087	0.064	0.36509	T	0.211	0.26631	T	0.027	0.19556	B	0.008	0.13708	B	0.001342	0.39310	N	0.213253	0.733033	0.33740	D	-0.2	0.04182	N	0.38	0.57575	T	-1.22	0.30964	N	0.219	0.24510	-1.0099	0.26949	T	0.061	0.25528	T	10	0.010058701	0.00225	T	0.00685	0.18121	T	0.081	0.23632	.	.	0.204265027416	0.20035	0.3151446428210923	0.31427	0.222461882437	0.24777	0.393697500229	0.24189	T	0.093166	0.39155	T	-0.475807	0.00783	T	-0.449985	0.27699	T	0.0363523373005231	0.03042	T	0.808619	0.45852	T	0.15188013	0.34504	0.06982334	0.14761	0.15188013	0.34504	0.06982334	0.14760	-2.264	0.04362	T	.	.	0.108	0.20391	B	.;.	.;.	3.693325	0.52633	23.3	0.99375048398740062	0.61628	0.91710	0.54099	D	AEFDGBCI	0.485757	0.52522	N	-0.278066868542326	0.29998	1.668565	-0.0589614785635752	0.37105	2.168121	0.969790180996603	0.29156	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.4	3.5	0.39181	4.540000	0.60375	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.156:0.0:0.844:0.0	10.908	0.46305	855	0.34697	BRCT domain|BRCT domain;BRCT domain|BRCT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1004.33	33	chr3	133655431	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.493;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.96;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr3	133811163	133811163	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G374C:p.R125T,SRPRB:NM_021203:exon5:c.G374C:p.R125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.080248268715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	1	0.81001	D	2.465	0.71551	M	1.64	0.27822	T	-5.99	0.89401	D	0.971	0.98167	-0.6921	0.60810	T	0.217	0.57967	T	10	0.98317224	0.98439	D	0.080248	0.73418	D	0.593	0.83802	0.911	0.98230	0.666577489966	0.66377	0.6595841042932219	0.65895	0.981204246999	0.73746	0.735932707787	0.72374	T	0.302427	0.67483	T	0.274107	0.80805	D	0.155959	0.80558	D	0.9972163438797	0.91033	D	0.931007	0.74365	D	0.7757549	0.82394	0.7889489	0.87580	0.7757549	0.82395	0.7889489	0.87581	-15.17	0.96239	D	.	.	0.996	0.95886	P	.	.	6.145521	0.94664	34	0.986594790397188	0.44303	0.99798	0.99538	D	AEFBI	0.919974	0.89128	D	0.884315895857466	0.90969	10.65269	0.862540314803169	0.93726	12.23806	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.317000	0.95419	11.685000	0.94275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.38	33	chr3	133811163	.	G	C	34.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.287;DP=1203;ExcessHet=0;FS=190.343;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.191;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1346:.	18	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S,SRPRB:NM_021203:exon5:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	99.18	152	chr3	133811164	.	G	C	99.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.731;DP=2066;ExcessHet=0.3672;FS=124.298;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.55;SOR=9.419	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	11	0	3	5
chr3	133955008	133955008	C	T	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon4:c.G583A:p.V195M	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.067379731123	.	.	4.123e-05	0	0	0	0.0008	0	0	0	3.23e-05	5	154602	rs758784301	6.157e-06	6.156e-06	9.529e-06	2.75e-06	.	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0001	0	0	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.056075	0.999998	0.81001	D	2.05	0.56469	M	1.09	0.39223	T	-1.98	0.45769	N	0.728	0.72925	-0.7528	0.57789	T	0.195	0.54913	T	10	0.71671367	0.73394	D	0.06738	0.70150	D	0.314	0.63588	0.761	0.88972	0.39619538035	0.39233	0.7821353079601289	0.78164	0.536128822372	0.50953	0.665987491608	0.62266	T	0.170067	0.51768	T	-0.0306994	0.47314	T	-0.281874	0.46612	T	0.495661199092865	0.32471	T	0.958204	0.84269	D	0.4868763	0.66316	0.48913142	0.70440	0.4868763	0.66317	0.48913142	0.70441	-8.348	0.63418	D	0.30333367949773443	0.40082	0.613	0.69407	P	.	.	4.583924	0.72443	25.8	0.99848218779777209	0.92750	0.81169	0.40630	D	AEFDBI	0.327265	0.42829	N	0.21072002682775	0.51717	3.350868	0.181642707625011	0.48843	3.094773	0.976521420220361	0.29733	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.89	5.02	0.66742	2.842000	0.47931	6.007000	0.52582	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.991000	0.66497	0.0:0.9322:0.0:0.0678	15.082	0.71794	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1178.33	34	chr3	133955008	.	C	T	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=690;ExcessHet=0;FS=3.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.746;SOR=0.347	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr3	134029726	134029726	G	A	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon1:c.C77T:p.S26L	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	720195	not_provided|SLCO2A1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	0.196217567825	0.0025	0.000399361	0.0042	0.0006	0.0028	0	0.0082	0.0067	0	0.0004	0.0018952	293	154602	rs201797879	0.0041	0.0040	0.0041	0.0040	0.0048	0.0040	0.0039	0.0047	0.0047	0.0005	0.0012	0.0001	0	0.0030	0.0013	0.0048	0.0040	0.0006	0.0027	0.0027	0.0028	0.0027	0.0051	0.0025	0.0024	0.0047	0.0045	0.0006	0.0011	0.0010	0	0	0.0017	0	0.0051	0.0014	0.0004	0.036	0.43393	D	0.016	0.60972	D	0.414	0.66517	B	0.062	0.49313	B	1.000000	0.07966	U	1.719030	0.999878	0.19925	N	0.55	0.14455	N	1.06	0.54149	T	-2.24	0.50175	N	0.317	0.43995	-1.0230	0.22736	T	0.105	0.38341	T	10	0.007827938	0.00178	T	0.196218	0.86466	D	0.123	0.34020	.	.	0.728633293707	0.72622	0.3192763800621531	0.31840	0.0953066022556	0.10761	0.711259007454	0.68776	T	0.205528	0.56461	T	-0.398498	0.02369	T	-0.340486	0.40289	T	0.0206827890633618	0.00768	T	0.832417	0.50060	T	0.094091475	0.22114	0.1427364	0.33947	0.074492924	0.16719	0.12384023	0.29856	-5.16	0.38533	T	0.2327777085538905	0.31507	0.187	0.40295	B	.;.	.;.	4.512297	0.70673	25.6	0.99717830681296304	0.81843	0.63582	0.32134	D	AEFDBCI	0.164066	0.29042	N	-0.310952779650803	0.28730	1.587168	-0.270338171797216	0.29081	1.62644	0.999670257315734	0.41644	0.65757	0.49021	0	0.563428	0.19063	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	3.02	3.02	0.33970	4.304000	0.58899	8.643000	0.77902	0.500000	0.22704	0.997000	0.40164	1.000000	0.68203	0.562000	0.30459	0.0:0.0:1.0:0.0	9.639	0.38993	883	0.28872	Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003579	0.000000	0.000000	0.002959	0.000000	0.000000	0.018987	0.003817	0.02632	810.33	42	chr3	134029726	.	G	A	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=718;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.663;SOR=0.88	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,902	18	0	1	0
chr3	134537191	134537191	C	T	exonic	CEP63	.	nonsynonymous SNV	CEP63:NM_001042383:exon6:c.C478T:p.R160C,CEP63:NM_001042384:exon6:c.C478T:p.R160C,CEP63:NM_001042400:exon6:c.C478T:p.R160C,CEP63:NM_001353108:exon6:c.C478T:p.R160C,CEP63:NM_001353109:exon6:c.C478T:p.R160C,CEP63:NM_001353110:exon6:c.C478T:p.R160C,CEP63:NM_001353111:exon6:c.C478T:p.R160C,CEP63:NM_001353113:exon6:c.C478T:p.R160C,CEP63:NM_001353117:exon6:c.C478T:p.R160C,CEP63:NM_001353118:exon6:c.C505T:p.R169C,CEP63:NM_001353119:exon6:c.C478T:p.R160C,CEP63:NM_001353120:exon6:c.C478T:p.R160C,CEP63:NM_001353123:exon6:c.C478T:p.R160C,CEP63:NM_001353124:exon6:c.C478T:p.R160C,CEP63:NM_001353125:exon6:c.C394T:p.R132C,CEP63:NM_001353112:exon7:c.C478T:p.R160C,CEP63:NM_001353121:exon7:c.C478T:p.R160C,CEP63:NM_001353122:exon7:c.C478T:p.R160C,CEP63:NM_001353126:exon7:c.C115T:p.R39C,CEP63:NM_025180:exon7:c.C478T:p.R160C	.	.	.	.	.	.	.	.	.	.	.	3163537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0216134560464	.	.	2.473e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs147553684	6.158e-06	6.841e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.94	0.37405	T	-5.39	0.87300	D	0.598	0.61764	-0.7207	0.59429	T	0.241	0.60941	T	10	0.4937149	0.61142	T	0.021613	0.44401	T	0.221	0.51721	0.299	0.26522	0.717097244813	0.71461	0.36918821376820865	0.36832	0.248968393867	0.27470	0.780515313148	0.79005	T	0.176956	0.69652	T	0.0357391	0.56484	T	0.105709	0.77287	D	0.85416179895401	0.50528	D	0.980402	0.95926	D	0.6686819	0.76362	0.5396241	0.73393	0.6686819	0.76363	0.5396241	0.73394	-8.742	0.67368	D	0.5245315512075456	0.59630	0.251	0.53959	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.526969	0.91835	32	0.99931911437267462	0.99439	0.87951	0.47673	D	AEFBI	0.576500	0.57847	D	0.693494983763843	0.79205	7.029021	0.677115797936079	0.80644	7.344972	0.999999982594055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.520000	0.45215	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.842	0.96691	921	0.19240	.;.;Centrosomal protein Cep63/Deup1, N-terminal;.;.;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1482.83	35	chr3	134537191	.	C	T	1482.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.527;DP=724;ExcessHet=0.119;FS=0.642;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.126;SOR=0.607	GT:AD:DP:GQ:PL	0/1:24,34:58:99:835,0,575	17	0	2	0
chr3	136003140	136003140	G	A	exonic	PPP2R3A	.	nonsynonymous SNV	PPP2R3A:NM_002718:exon2:c.G1642A:p.G548S	.	435	1083	4	0	0	4	0.00184332	.	.	.	3215379	PPP2R3A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00646324843911	0.0002	0.00139776	0.0010	0.0001	0	0.0008	0	4.513e-05	0.0022	0.0063	0.0008021	124	154602	rs371563412	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0065	0.0063	0	2.238e-05	0	0.0002	0	0.0002	7.195e-06	0.0004	0.0070	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0.0002	0	0	7.351e-05	0.0005	0.0077	0.14	0.25664	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.093765	0.02480	N	1.753360	1	0.08975	N	1.155	0.29575	L	3.45	0.05311	T	-0.15	0.09297	N	0.044	0.01658	-1.0025	0.29197	T	0.013	0.05321	T	10	0.004806608	0.00102	T	0.006463	0.17014	T	0.068	0.19811	.	.	0.043077524339	0.03247	0.08855444432182104	0.08788	0.061124321464	0.06801	0.235332250595	0.02386	T	0.012548	0.11008	T	-0.637233	0.00087	T	-0.68495	0.06686	T	0.0148463926823302	0.00313	T	0.645335	0.25688	T	0.06539899	0.13973	0.069887035	0.14781	0.06539899	0.13973	0.069887035	0.14780	-1.888	0.02785	T	.	.	0.068	0.02670	B	.	.	0.962341	0.13387	9.895	0.82802106238431117	0.14382	0.05955	0.11913	N	AEFBI	0.074118	0.14845	N	-0.697817529940127	0.16084	0.8163413	-0.58161675757536	0.19973	1.073999	0.514873713333222	0.21048	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.52	4.64	0.57399	2.045000	0.40873	3.275000	0.37188	0.590000	0.31872	0.200000	0.24308	1.000000	0.68203	0.379000	0.26312	0.1871:0.0:0.8129:0.0	8.228	0.30739	304	0.87780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1895.33	41	chr3	136003140	.	G	A	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=1172;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.14;SOR=0.603	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr3	136145123	136145123	T	C	exonic	PPP2R3A	.	nonsynonymous SNV	PPP2R3A:NM_001190447:exon13:c.T1202C:p.L401P,PPP2R3A:NM_181897:exon13:c.T1547C:p.L516P,PPP2R3A:NM_002718:exon14:c.T3410C:p.L1137P	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.00199681	0.0013	0	0	0	0	3.008e-05	0	0.0091	0.0010543	163	154602	rs535866427	0.0006	0.0006	0.0004	0.0008	0.0091	0.0006	0.0006	0.0086	0.0083	8.968e-05	2.239e-05	0	2.521e-05	0	0.0003	4.857e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0006	0.0108	0.0003	0.0002	0.0084	0.0076	0	0	6.534e-05	0	0	0	0	0	0	0.0108	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.001718	0.38216	N	0.171002	0.999998	0.58761	D	2.045	0.56016	M	2.97	0.29866	T	-1.18	0.37759	N	0.523	0.55280	-0.9337	0.43590	T	0.137	0.45280	T	10	0.0049233735	0.00105	T	.	.	.	0.165	0.42395	0.238	0.16912	0.321115633427	0.31720	0.5989735952257256	0.59828	0.259252817373	0.28482	0.459696471691	0.33268	T	0.013606	0.11736	T	-0.227089	0.17035	T	-0.0917255	0.64032	T	0.067099882015504	0.08238	T	0.70043	0.31009	T	0.5104371	0.67704	0.47084212	0.69317	0.5104371	0.67705	0.47084212	0.69318	-2.705	0.09314	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	4.244641	0.64379	24.7	0.99896095026491205	0.96895	0.84917	0.44012	D	AEFBCI	0.737642	0.68277	D	0.512452246220375	0.67826	5.133621	0.504122671058449	0.68267	5.196564	0.999999623162516	0.74766	0.651	0.46895	0	0.514364	0.08380	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.69	5.69	0.88346	4.911000	0.63024	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.423000	0.27295	0.0:0.0:0.0:1.0	13.688	0.62005	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	819.33	37	chr3	136145123	.	T	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=686;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.113;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1333	18	0	1	0
chr3	136327686	136327686	C	T	exonic	PCCB	.	nonsynonymous SNV	PCCB:NM_000532:exon13:c.C1352T:p.T451I,PCCB:NM_001178014:exon14:c.C1412T:p.T471I	Propionicacidemia, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	YES	708603	not_provided|Propionic_acidemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.486	0.0472963051034	0.0002	0.00179712	0.0005	9.612e-05	0	0	0	0.0001	0	0.0031	0.0004657	72	154602	rs145135400	0.0003	0.0003	0.0002	0.0004	0.0033	0.0002	0.0002	0.0030	0.0029	0	4.472e-05	0	0	0	0.0009	7.824e-05	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0046	0.881	0.03125	T	0.719	0.05805	T	0.0	0.02946	B	0.002	0.10090	B	0.006688	0.31864	N	0.357319	1	0.81001	D	-2.195	0.00125	N	-3.49	0.97343	D	0.96	0.02038	N	0.616	0.74371	-0.2841	0.75429	T	0.493	0.80772	T	10	0.015039772	0.00316	T	0.047296	0.62856	D	0.486	0.77464	.	.	0.794198460529	0.79228	0.5838600639256928	0.58315	0.10943183784	0.12343	0.40513291955	0.25782	T	0.551794	0.84837	D	-0.0810675	0.39541	T	0.107725	0.77423	D	0.0419647081702453	0.04048	T	0.90371	0.66210	D	0.025217675	0.01436	0.034889895	0.02638	0.024935598	0.01376	0.03201962	0.01874	1.027	0.00233	T	0.04617891211752158	0.00623	0.084	0.22717	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.589980	0.20337	14.70	0.21000547919876791	0.00781	0.67879	0.33594	D	AEFBI	0.548342	0.56167	D	-0.833353200162267	0.12464	0.6076926	-0.569424329907104	0.20292	1.092621	0.087944261289388	0.16048	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.79	1.8	0.24069	0.813000	0.26883	0.948000	0.22902	0.469000	0.21855	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.6137:0.0:0.3863	9.299	0.36997	394	0.83065	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1050.33	34	chr3	136327686	.	C	T	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.169;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1406	18	0	1	0
chr3	136330016	136330016	T	C	exonic	PCCB	.	nonsynonymous SNV	PCCB:NM_000532:exon15:c.T1610C:p.I537T,PCCB:NM_001178014:exon16:c.T1670C:p.I557T	Propionicacidemia, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.318200643431	.	.	8.243e-06	0	8.642e-05	0	0	0	0	0	6.5e-06	1	154602	rs759733016	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0.0002	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.93	0.51791	P	0.786	0.57542	P	0.000018	0.62929	D	0.113352	0.999999	0.81001	D	3.135	0.88152	M	-4.67	0.97973	D	-3.78	0.73684	D	0.717	0.71942	1.096	0.99499	D	0.954	0.98521	D	10	0.74255365	0.75061	D	0.318201	0.91394	D	0.938	0.98636	0.65	0.78753	0.98672461406	0.98657	0.763241242110953	0.76272	0.457163589501	0.45363	0.806106686592	0.82894	D	0.881854	0.97530	D	0.347445	0.86335	D	0.358159	0.90632	D	0.993593871593475	0.84455	D	0.985501	0.95043	D	0.6367447	0.74657	0.6962401	0.82114	0.6367447	0.74659	0.6962401	0.82115	-12.369	0.86602	D	.	.	0.696	0.80838	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.823830	0.78594	26.9	0.99830902595771431	0.91284	0.95734	0.65927	D	AEFDBHCI	0.941122	0.94398	D	0.754349086763813	0.83187	7.952312	0.715477292136185	0.83553	8.052172	0.999999986474056	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.376000	0.78918	7.779000	0.68628	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.247	0.73203	394	0.83065	Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1233.33	33	chr3	136330016	.	T	C	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.974;DP=707;ExcessHet=0;FS=1.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.789;SOR=0.52	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	18	0	1	0
chr3	138162433	138162433	T	C	exonic	DBR1	.	nonsynonymous SNV	DBR1:NM_016216:exon8:c.A1091G:p.N364S	.	431	1090	1	0	0	1	0.000458505	.	.	.	2098486	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.346	.	0.0005	0.00559105	0.0027	0.0014	8.639e-05	0.0337	0	0.0001	0	0.0007	0.0025097	388	154602	rs117574050	0.0010	0.0010	0.0010	0.0010	0.0290	0.0009	0.0009	0.0276	0.0270	0.0013	4.472e-05	0.0011	0.0290	0	0	3.597e-05	0.0015	0.0008	0.0015	0.0015	0.0013	0.0017	0.0324	0.0014	0.0013	0.0284	0.0269	0.0012	0	0.0003	0.0003	0.0324	0	0	8.82e-05	0.0005	0.0004	0.06	0.37326	T	0.056	0.46632	T	0.261	0.31520	B	0.367	0.43430	B	0.000380	0.45194	N	0.274240	0.999958	0.52396	D	2.13	0.59329	M	-0.11	0.64445	T	-4.56	0.78636	D	0.187	0.20395	-0.6535	0.62561	T	0.070	0.28577	T	10	0.008396745	0.00190	T	.	.	.	0.346	0.66769	.	.	0.285698343383	0.28168	0.6988408204198442	0.69825	0.336636038769	0.35660	0.303295791149	0.10893	T	0.430938	0.77923	T	-0.535889	0.00354	T	-0.511843	0.21125	T	0.0978463634093577	0.12118	T	0.762324	0.38756	T	0.101667725	0.24017	0.18749988	0.41986	0.101667725	0.24017	0.18749988	0.41985	-9.99	0.73852	D	.	.	0.051	0.00195	B	.	.	-0.836611	0.01037	0.044	0.95764078461665059	0.27759	0.88145	0.47945	D	AEFDGBI	0.074168	0.14859	N	-1.01379197555464	0.08317	0.3895424	-1.11629516365328	0.07389	0.3592012	0.999995328245904	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	-10.9	0.00151	0.172000	0.16518	-11.510000	0.00598	-1.462000	0.01081	0.987000	0.36337	0.000000	0.08366	0.868000	0.41282	0.0:0.655:0.0:0.345	20.248	0.98401	530	0.73653	Lariat debranching enzyme, C-terminal|Lariat debranching enzyme, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2161.33	44	chr3	138162433	.	T	C	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.461;DP=853;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=2.59;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr3	138223423	138223423	A	G	exonic	ARMC8	.	nonsynonymous SNV	ARMC8:NM_001282342:exon3:c.A103G:p.T35A,ARMC8:NM_001267041:exon4:c.A229G:p.T77A,ARMC8:NM_001267042:exon4:c.A229G:p.T77A,ARMC8:NM_001363941:exon4:c.A229G:p.T77A,ARMC8:NM_001363942:exon4:c.A103G:p.T35A,ARMC8:NM_014154:exon5:c.A187G:p.T63A,ARMC8:NM_015396:exon5:c.A187G:p.T63A,ARMC8:NM_213654:exon5:c.A187G:p.T63A	.	437	1058	26	1	0	28	0.0130597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0020	0.00379393	0.0028	0.0003	0.0023	0	0.0003	0.0022	0.0011	0.0098	0.0026714	413	154602	rs146088572	0.0023	0.0023	0.0021	0.0026	0.0116	0.0023	0.0022	0.0094	0.0092	0.0004	0.0030	0.0009	0	0.0001	0.0116	0.0019	0.0029	0.0099	0.0019	0.0019	0.0017	0.0021	0.0116	0.0017	0.0017	0.0092	0.0083	0.0005	0.0022	0.0033	0.0003	0	0.0003	0.0136	0.0022	0.0028	0.0116	0.514	0.07449	T	0.614	0.22962	T	0.012	0.17989	B	0.014	0.20792	B	0.000295	0.46274	D	0.232973	0.988438	0.40763	D	0	0.06538	N	1.36	0.34452	T	-1.12	0.30555	N	0.258	0.30574	-1.0731	0.08745	T	0.038	0.16462	T	10	0.007252604	0.00165	T	.	.	.	0.019	0.03383	.	.	0.196089822672	0.19227	0.15376029250558546	0.15298	0.642605149853	0.57820	0.557981133461	0.46983	T	0.040801	0.25649	T	-0.530853	0.00380	T	-0.528061	0.19480	T	0.0257044843958931	0.01366	T	0.832517	0.50622	T	0.058245815	0.11693	0.07300166	0.15813	0.058245815	0.11693	0.07300166	0.15812	-4.419	0.38190	T	.	.	0.062	0.01762	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.555694	0.33087	19.24	0.94680712454225624	0.25314	0.90946	0.52562	D	AEFGBI	0.245310	0.36627	N	-0.201161614229716	0.33086	1.873	0.0454931421428507	0.41854	2.521533	0.999996554470424	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	2.417000	0.44307	11.243000	0.90488	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.268	0.65679	435	0.80441	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.008772	0.000000	0.000000	0.012195	0.018939	0.05263	1840.83	36	chr3	138223423	.	A	G	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.796;DP=761;ExcessHet=0.119;FS=8.863;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.811;SOR=0.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	17	0	2	0
chr3	140678379	140678379	C	G	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon1:c.C150G:p.C50W	.	423	1092	7	0	0	7	0.00319489	.	.	.	2336128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.234	0.0157483482268	0.0005	.	0.0006	0	0.0007	0	0	0.0008	0.0011	0.0003	0.0004657	72	154602	rs141361028	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0048	0.0042	0.0001	0.0009	0.0046	0	0	0.0064	0.0004	0.0010	0.0004	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0022	0.0020	0.0002	0	0.0029	0.0043	0	0	0.0068	0.0007	0.0009	0.0002	0.069	0.35537	T	0.222	0.25748	T	0.999	0.77913	D	0.887	0.62952	P	0.101498	0.19837	N	0.511513	0.999946	0.51968	D	1.04	0.26193	L	1.04	0.40218	T	-1.85	0.43334	N	0.785	0.78167	-1.0414	0.16890	T	0.097	0.36315	T	10	0.08149922	0.13349	T	0.015748	0.36654	T	0.234	0.53644	.	.	0.502878934189	0.49925	0.8091116214778893	0.80866	0.961546008612	0.73030	0.723027408123	0.70487	T	0.005089	0.04527	T	-0.300767	0.08588	T	-0.268186	0.48002	T	0.0547075814622254	0.06308	T	0.679332	0.28809	T	0.19993033	0.41950	0.16060242	0.37398	0.19993033	0.41950	0.16060242	0.37397	-6.701	0.51818	T	.	.	0.927	0.84804	P	.	.	3.700671	0.52779	23.3	0.99298717592739283	0.58541	0.80023	0.39774	D	AEFI	0.499204	0.53299	N	0.172065467400196	0.49862	3.181898	0.213339131662549	0.50586	3.249167	1.32045791463176E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.76	0.42368	1.477000	0.35039	0.821000	0.21853	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.927000	0.46353	0.0:0.8191:0.0:0.1809	8.257	0.30923	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6371.83	33	chr3	140678379	.	C	G	6371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.688;DP=1139;ExcessHet=0.119;FS=2.462;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.854;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	17	0	2	0
chr3	141443101	141443101	G	A	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.G713A:p.R238H,ZBTB38:NM_001376166:exon3:c.G713A:p.R238H,ZBTB38:NM_001376176:exon3:c.G713A:p.R238H,ZBTB38:NM_001376180:exon3:c.G713A:p.R238H,ZBTB38:NM_001376183:exon3:c.G713A:p.R238H,ZBTB38:NM_001376188:exon3:c.G713A:p.R238H,ZBTB38:NM_001350100:exon4:c.G713A:p.R238H,ZBTB38:NM_001376119:exon4:c.G713A:p.R238H,ZBTB38:NM_001376127:exon4:c.G713A:p.R238H,ZBTB38:NM_001376152:exon4:c.G713A:p.R238H,ZBTB38:NM_001376157:exon4:c.G713A:p.R238H,ZBTB38:NM_001376162:exon4:c.G713A:p.R238H,ZBTB38:NM_001376163:exon4:c.G713A:p.R238H,ZBTB38:NM_001376168:exon4:c.G713A:p.R238H,ZBTB38:NM_001376172:exon4:c.G713A:p.R238H,ZBTB38:NM_001376175:exon4:c.G713A:p.R238H,ZBTB38:NM_001376179:exon4:c.G713A:p.R238H,ZBTB38:NM_001376181:exon4:c.G713A:p.R238H,ZBTB38:NM_001376184:exon4:c.G713A:p.R238H,ZBTB38:NM_001376185:exon4:c.G713A:p.R238H,ZBTB38:NM_001376186:exon4:c.G713A:p.R238H,ZBTB38:NM_001376187:exon4:c.G713A:p.R238H,ZBTB38:NM_001376189:exon4:c.G713A:p.R238H,ZBTB38:NM_001376190:exon4:c.G713A:p.R238H,ZBTB38:NM_001376115:exon5:c.G713A:p.R238H,ZBTB38:NM_001376120:exon5:c.G713A:p.R238H,ZBTB38:NM_001376126:exon5:c.G713A:p.R238H,ZBTB38:NM_001376128:exon5:c.G713A:p.R238H,ZBTB38:NM_001376142:exon5:c.G713A:p.R238H,ZBTB38:NM_001376158:exon5:c.G713A:p.R238H,ZBTB38:NM_001376159:exon5:c.G713A:p.R238H,ZBTB38:NM_001376165:exon5:c.G713A:p.R238H,ZBTB38:NM_001376167:exon5:c.G713A:p.R238H,ZBTB38:NM_001376169:exon5:c.G713A:p.R238H,ZBTB38:NM_001376170:exon5:c.G713A:p.R238H,ZBTB38:NM_001376171:exon5:c.G713A:p.R238H,ZBTB38:NM_001376173:exon5:c.G713A:p.R238H,ZBTB38:NM_001376174:exon5:c.G713A:p.R238H,ZBTB38:NM_001376177:exon5:c.G713A:p.R238H,ZBTB38:NM_001376178:exon5:c.G713A:p.R238H,ZBTB38:NM_001376182:exon5:c.G713A:p.R238H,ZBTB38:NM_001350099:exon6:c.G713A:p.R238H,ZBTB38:NM_001376113:exon6:c.G713A:p.R238H,ZBTB38:NM_001376116:exon6:c.G713A:p.R238H,ZBTB38:NM_001376125:exon6:c.G713A:p.R238H,ZBTB38:NM_001376143:exon6:c.G713A:p.R238H,ZBTB38:NM_001376150:exon6:c.G713A:p.R238H,ZBTB38:NM_001376160:exon6:c.G713A:p.R238H,ZBTB38:NM_001376161:exon6:c.G713A:p.R238H,ZBTB38:NM_001376112:exon7:c.G713A:p.R238H,ZBTB38:NM_001376114:exon7:c.G713A:p.R238H,ZBTB38:NM_001376117:exon7:c.G713A:p.R238H,ZBTB38:NM_001376118:exon7:c.G713A:p.R238H,ZBTB38:NM_001080412:exon8:c.G713A:p.R238H,ZBTB38:NM_001376121:exon8:c.G713A:p.R238H,ZBTB38:NM_001376122:exon8:c.G713A:p.R238H,ZBTB38:NM_001376123:exon8:c.G713A:p.R238H,ZBTB38:NM_001376124:exon8:c.G713A:p.R238H	.	434	1061	26	1	0	28	0.0130233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00279553	0.0032	0.0002	0.0004	0	0	0.0004	0.0022	0.0211	0.0026908	416	154602	rs377023098	0.0015	0.0015	0.0009	0.0021	0.0209	0.0014	0.0014	0.0201	0.0198	5.974e-05	0.0004	0.0009	0.0002	0	0.0035	0.0002	0.0018	0.0209	0.0007	0.0007	0.0004	0.0010	0.0178	0.0006	0.0006	0.0148	0.0136	0.0001	0	0.0001	0.0006	0.0002	0	0.0068	0.0002	0	0.0178	0.532	0.06980	T	0.543	0.09725	T	0.0	0.02946	B	0.0	0.01387	B	0.741391	0.06430	N	1.147300	1	0.08975	N	1.95	0.52479	M	3.55	0.08460	T	0.11	0.07736	N	0.058	0.02964	-0.9316	0.43903	T	0.013	0.05081	T	9	0.0043236613	0.00087	T	.	.	.	0.054	0.15330	.	.	0.082315109003	0.07666	0.21962120125670054	0.21878	0.514898390114	0.49413	0.202820792794	0.00543	T	0.015443	0.12953	T	-0.670972	0.00054	T	-0.720325	0.04780	T	0.00300759105265751	0.00031	T	0.629237	0.24427	T	0.027447535	0.01938	0.022425618	0.00267	0.027447535	0.01937	0.022425618	0.00267	-4.186	0.26548	T	.	.	0.069	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	0.233126	0.06140	2.588	0.4961296238526568	0.04240	0.09414	0.15175	N	AEFBI	0.070745	0.14055	N	-0.907266734746788	0.10670	0.5110632	-0.866328005923405	0.12896	0.6659944	0.999773346032568	0.42865	0.719381	0.83141	0	0.702456	0.74545	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.28	2.35	0.28166	0.017000	0.13294	0.019000	0.13561	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2746:0.0:0.477:0.2484	4.538	0.11443	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2897.33	34	chr3	141443101	.	G	A	2897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=867;ExcessHet=0;FS=0.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.732;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	18	0	1	0
chr3	141444594	141444594	A	G	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376166:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376176:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376180:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376183:exon3:c.A2206G:p.M736V,ZBTB38:NM_001376188:exon3:c.A2206G:p.M736V,ZBTB38:NM_001350100:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376119:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376127:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376152:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376157:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376162:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376163:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376168:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376172:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376175:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376179:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376181:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376184:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376185:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376186:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376187:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376189:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376190:exon4:c.A2206G:p.M736V,ZBTB38:NM_001376115:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376120:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376126:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376128:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376142:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376158:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376159:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376165:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376167:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376169:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376170:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376171:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376173:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376174:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376177:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376178:exon5:c.A2206G:p.M736V,ZBTB38:NM_001376182:exon5:c.A2206G:p.M736V,ZBTB38:NM_001350099:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376113:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376116:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376125:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376143:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376150:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376160:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376161:exon6:c.A2206G:p.M736V,ZBTB38:NM_001376112:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376114:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376117:exon7:c.A2206G:p.M736V,ZBTB38:NM_001376118:exon7:c.A2206G:p.M736V,ZBTB38:NM_001080412:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376121:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376122:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376123:exon8:c.A2206G:p.M736V,ZBTB38:NM_001376124:exon8:c.A2206G:p.M736V	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0024486076659	.	0.000798722	0.0007	0	0.0010	0	0	0.0002	0.0033	0.0030	0.0005821	90	154602	rs200730943	0.0003	0.0003	0.0002	0.0004	0.0073	0.0003	0.0003	0.0055	0.0049	0.0001	0.0007	0.0002	0	0	0.0073	9.622e-05	0.0005	0.0028	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0	0	0.0008	0.0003	0	0	0.0102	0.0001	0.0005	0.0025	0.816	0.02989	T	1.0	0.10000	T	0.0	0.02946	B	0.0	0.01387	B	0.275978	0.03802	N	1.462160	1	0.08975	N	0.975	0.24501	L	3.86	0.06762	T	0.02	0.06739	N	0.069	0.04790	-0.9476	0.41380	T	0.012	0.04510	T	9	0.003121525	0.00052	T	0.002449	0.04840	T	0.014	0.01968	0.205	0.12076	0.0675242888579	0.06100	0.028373563987510994	0.02787	0.41830726126	0.42424	0.221770316362	0.01415	T	0.002988	0.02391	T	-0.690901	0.00041	T	-0.768886	0.02805	T	0.00933414055993115	0.00119	T	0.512749	0.16428	T	0.022477835	0.00914	0.038824305	0.03837	0.022477835	0.00914	0.038824305	0.03837	-1.419	0.01606	T	.	.	0.060	0.01577	B	.;.;.;.;.	.;.;.;.;.	-0.755340	0.01198	0.059	0.78649343985980003	0.12392	0.04484	0.10099	N	AEFBI	0.036923	0.04997	N	-1.0779048504822	0.07052	0.3264602	-1.0628154479985	0.08442	0.4150934	0.999810907957028	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	-2.69	0.05668	-0.813000	0.04598	-1.625000	0.05036	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.3922:0.2299:0.3778:0.0	7.134	0.24694	821	0.40814	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.011696	0.000000	0.017241	0.006098	0.003788	0.02632	1454.33	34	chr3	141444594	.	A	G	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.848;DP=854;ExcessHet=0;FS=2.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.244;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	18	0	1	0
chr3	141444754	141444754	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376166:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376176:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376180:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376183:exon3:c.C2366T:p.P789L,ZBTB38:NM_001376188:exon3:c.C2366T:p.P789L,ZBTB38:NM_001350100:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376119:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376127:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376152:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376157:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376162:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376163:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376168:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376172:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376175:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376179:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376181:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376184:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376185:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376186:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376187:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376189:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376190:exon4:c.C2366T:p.P789L,ZBTB38:NM_001376115:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376120:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376126:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376128:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376142:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376158:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376159:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376165:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376167:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376169:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376170:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376171:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376173:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376174:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376177:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376178:exon5:c.C2366T:p.P789L,ZBTB38:NM_001376182:exon5:c.C2366T:p.P789L,ZBTB38:NM_001350099:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376113:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376116:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376125:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376143:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376150:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376160:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376161:exon6:c.C2366T:p.P789L,ZBTB38:NM_001376112:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376114:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376117:exon7:c.C2366T:p.P789L,ZBTB38:NM_001376118:exon7:c.C2366T:p.P789L,ZBTB38:NM_001080412:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376121:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376122:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376123:exon8:c.C2366T:p.P789L,ZBTB38:NM_001376124:exon8:c.C2366T:p.P789L	.	.	.	.	.	.	.	.	.	.	.	3356901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00467848631684	.	.	8.325e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs752377477	2.121e-05	2.121e-05	1.906e-05	2.338e-05	4.472e-05	1.52e-05	1.324e-05	1.174e-05	9.55e-06	0	4.472e-05	0	2.519e-05	1.873e-05	0	1.799e-05	6.623e-05	3.478e-05	6.575e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.526	0.07116	T	0.519	0.10501	T	0.0	0.02946	B	0.0	0.01387	B	0.875850	0.07204	N	1.066810	1	0.08975	N	0.915	0.23335	L	3.1	0.08283	T	-0.15	0.09297	N	0.071	0.04426	-0.9584	0.39479	T	0.013	0.05177	T	9	0.038012415	0.02192	T	0.004678	0.11628	T	0.040	0.10527	0.224	0.14813	0.043077524339	0.03247	0.11067955290298502	0.10996	0.420908205615	0.42609	0.246695369482	0.03428	T	0.007676	0.07071	T	-0.421811	0.01666	T	-0.760813	0.03084	T	0.0152875096193424	0.00338	T	0.590441	0.21717	T	0.01375432	0.00069	0.024291677	0.00446	0.01375432	0.00068	0.024291677	0.00446	-3.117	0.11492	T	.	.	0.077	0.06341	B	.;.;.;.	.;.;.;.	1.012417	0.13913	10.47	0.61262512074870357	0.06665	0.29276	0.23779	N	AEFDBIJ	0.102859	0.20622	N	-0.909135784361842	0.10627	0.5087625	-0.820551828490116	0.13998	0.7291427	0.999986821475244	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.33	3.29	0.36801	0.327000	0.19408	1.704000	0.28151	-0.193000	0.09282	0.000000	0.06391	0.005000	0.19230	0.071000	0.16709	0.0:0.7163:0.0:0.2837	8.757	0.33812	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1588.33	34	chr3	141444754	.	C	T	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=791;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.488;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	18	0	1	0
chr3	141974061	141974061	C	T	exonic	TFDP2	.	nonsynonymous SNV	TFDP2:NM_001178142:exon3:c.G242A:p.C81Y,TFDP2:NM_001375779:exon4:c.G311A:p.C104Y,TFDP2:NM_001178140:exon5:c.G566A:p.C189Y,TFDP2:NM_001178141:exon5:c.G359A:p.C120Y,TFDP2:NM_001375756:exon6:c.G467A:p.C156Y,TFDP2:NM_001375774:exon6:c.G599A:p.C200Y,TFDP2:NM_001375780:exon6:c.G311A:p.C104Y,TFDP2:NM_006286:exon6:c.G470A:p.C157Y,TFDP2:NM_001178139:exon8:c.G650A:p.C217Y,TFDP2:NM_001375773:exon8:c.G653A:p.C218Y,TFDP2:NM_001178138:exon9:c.G470A:p.C157Y,TFDP2:NM_001375775:exon9:c.G584A:p.C195Y,TFDP2:NM_001375776:exon9:c.G470A:p.C157Y,TFDP2:NM_001375778:exon9:c.G467A:p.C156Y	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.0760620500717	0.0003	.	0.0004	0	8.639e-05	0	0	0.0004	0	0.0011	0.0003881	60	154602	rs199842925	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	9.01e-05	0.0002	0.0004	2.54e-05	0	0.0005	0.0005	0.0005	0.0008	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0002	0.0003	0	0	0	0.0005	0.0005	0.0004	0.05	0.39575	D	0.132	0.35455	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	1.7	0.49642	T	-8.63	0.98162	D	0.884	0.88246	-0.6348	0.63367	T	0.290	0.66182	T	10	0.5726603	0.65405	D	0.076062	0.72440	D	0.467	0.76222	.	.	0.276254252017	0.27237	0.7573639160833922	0.75684	1.30456342951	0.83096	0.940853953362	0.99488	D	0.418831	0.77105	T	-0.0479031	0.44767	T	0.145184	0.79878	D	0.216803951891657	0.21303	T	0.969303	0.88939	D	0.79761565	0.83753	0.88094807	0.93628	0.79761565	0.83755	0.88094807	0.93629	-7.843	0.59995	D	.	.	0.684	0.72303	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.260622	0.88332	29.6	0.9950701685253367	0.68381	0.98061	0.79268	D	AEFBI	0.951058	0.96526	D	0.776564625914938	0.84621	8.339156	0.790289772766199	0.89109	9.842338	0.999999999999017	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	7.769000	0.84183	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.994	0.97380	431	0.80762	Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;.;.;.;.;.;.;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal;Transcription factor DP, C-terminal|Transcription factor DP, C-terminal|Transcription factor DP, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	911.33	35	chr3	141974061	.	C	T	911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.112;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.346;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	0	1	0
chr3	142459225	142459225	A	G	splicing	ATR	NM_001354579:exon42:c.7157+2T>C;NM_001184:exon43:c.7349+2T>C	.	.	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	0.9779	0.56	.	794342	Seckel_syndrome_1|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0004	9.917e-05	0	0	0	0	0	0.0031	0.0003493	54	154602	rs200556378	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0	1.799e-06	0.0004	0.0032	0.0001	0.0001	6.422e-05	0.0002	0.0035	8.16e-05	6.718e-05	0.0022	0.0018	4.809e-05	0	0	0	0	0	0	0	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30341	0.83239	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.407994	0.68162	25.2	0.97554321019205759	0.34587	0.98281	0.81223	D	AEFDBIJ	.	.	.	0.867105099824678	0.90059	10.23511	0.652768778395702	0.78815	6.953242	0.962538290744902	0.28629	0.156188	0.03335	0	0.156173	0.03658	0	0.083675	0.02720	0	0.092715	0.02821	0	0.808912	0.48015	4.3	3.14	0.35196	7.364000	0.78783	6.189000	0.54741	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.9141:0.0:0.0859:0.0	9.449	0.37876	366	0.84579	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1052.33	34	chr3	142459225	.	A	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=707;ExcessHet=0;FS=2.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.183;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T,ATR:NM_001184:exon35:c.T5987C:p.M1996T	Seckel syndrome 1, Autosomal recessive	2	1490	29	1	0	31	0.0102956	.	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided|Seckel_syndrome_1	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.008772	0.100000	0.000000	0.009146	0.011364	0.02632	1902.33	33	chr3	142493223	.	A	G	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.247;DP=794;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.808;SOR=0.772	GT:AD:DP:GQ:PL	0/1:84,83:167:99:1916,0,2105	18	0	1	0
chr3	142499704	142499704	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon30:c.A5111G:p.D1704G,ATR:NM_001184:exon31:c.A5303G:p.D1768G	Seckel syndrome 1, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	989293	Inborn_genetic_diseases|Seckel_syndrome_1|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0173343863745	.	.	4.119e-05	0	8.64e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs763130593	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0005	1.584e-05	1.356e-05	0.0001	7.541e-05	2.987e-05	4.472e-05	0	0	0	0.0005	1.529e-05	8.28e-05	4.637e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.243	0.17526	T	0.194	0.28120	T	0.109	0.26142	B	0.031	0.21939	B	0.000437	0.44522	D	0.190522	0.929982	0.36943	D	0.975	0.24501	L	3.97	0.03326	T	-1.33	0.33197	N	0.299	0.33796	-0.8920	0.48758	T	0.010	0.03765	T	10	0.14567864	0.27629	T	0.017334	0.38985	T	0.072	0.21020	0.537	0.64730	0.398365109743	0.39450	0.3462730884819536	0.34541	0.921030021075	0.71453	0.442907273769	0.30975	T	0.080926	0.36478	T	-0.320093	0.06889	T	-0.505886	0.21739	T	0.165563836693764	0.18273	T	0.874613	0.58533	D	0.26537517	0.49606	0.14023457	0.33434	0.26537517	0.49606	0.14023457	0.33434	-3.109	0.11399	T	.	.	0.076	0.05756	B	.	.	4.086414	0.60831	24.3	0.97447105666973366	0.34012	0.94204	0.60429	D	AEFBI	0.463168	0.51220	N	-0.133859294723242	0.35924	2.069704	0.035198456149123	0.41363	2.483686	0.997381040500076	0.35561	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	4.031000	0.56978	7.915000	0.74225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:0.3088:0.6912	10.491	0.43938	379	0.83778	PIK-related kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1350.33	33	chr3	142499704	.	T	C	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.083;DP=742;ExcessHet=0;FS=3.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.433;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	18	0	1	0
chr3	143989719	143989719	A	G	exonic	DIPK2A	.	nonsynonymous SNV	DIPK2A:NM_001134470:exon3:c.A544G:p.K182E,DIPK2A:NM_001363944:exon3:c.A457G:p.K153E,DIPK2A:NM_173552:exon3:c.A1171G:p.K391E	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0115960158139	0.0002	0.000199681	0.0005	0	0.0003	0	0	0.0008	0.0022	0.0005	0.0004722	73	154602	rs151253605	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	5.974e-05	0.0004	0.0091	0	0	0.0007	0.0001	0.0011	0.0007	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	8.992e-05	0	0	6.532e-05	0.0089	0	0	0	0.0001	0.0005	0.0006	0.106	0.30515	T	0.313	0.57104	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	1.44	0.32722	T	-0.57	0.22727	N	0.493	0.54234	-1.0651	0.10526	T	0.098	0.36728	T	10	0.0083890855	0.00190	T	0.011596	0.29387	T	0.122	0.33800	.	.	0.50557994651	0.50197	0.6903090311022394	0.68970	1.06356656184	0.76555	.	.	.	.	.	.	-0.186769	0.22734	T	-0.145263	0.59660	T	0.0398063630384064	0.03654	T	0.872913	0.58047	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.19438	B	.;.;.;.	.;.;.;.	3.191302	0.43364	21.7	0.99632317616514421	0.76142	0.94733	0.62143	D	AEFDBCIJ	0.859690	0.77741	D	0.31162719972725	0.56745	3.839729	0.429427229917585	0.63405	4.573684	0.999999999932966	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.001000	0.76051	9.341000	0.80216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.348	0.83004	934	0.15400	FAM69, protein-kinase domain;.;FAM69, protein-kinase domain;FAM69, protein-kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1468.33	37	chr3	143989719	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=738;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.747;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	18	0	1	0
chr3	146454096	146454096	G	C	exonic	PLSCR2	.	nonsynonymous SNV	PLSCR2:NM_001199979:exon5:c.C596G:p.T199R,PLSCR2:NM_020359:exon6:c.C389G:p.T130R,PLSCR2:NM_001199978:exon7:c.C608G:p.T203R	.	440	1077	5	0	0	5	0.00231589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0028	0.00179712	0.0036	0.0013	0.0111	0	0.0011	0.0040	0.0033	0.0010	0.0036287	561	154602	rs141636818	0.0049	0.0049	0.0049	0.0048	0.0099	0.0048	0.0047	0.0092	0.0089	0.0006	0.0099	0.0015	0	0.0012	0.0016	0.0056	0.0041	0.0010	0.0034	0.0034	0.0038	0.0030	0.0065	0.0031	0.0030	0.0054	0.0051	0.0011	0	0.0065	0.0020	0	0.0011	0	0.0050	0.0043	0.0006	0.013	0.53900	D	0.018	0.59732	D	.	.	.	.	.	.	0.062518	0.22093	U	0.161832	0.729056	0.33699	D	0.345	0.11182	N	2.15	0.19311	T	-1.17	0.29933	N	0.254	0.30574	-0.9952	0.31245	T	0.028	0.12147	T	10	0.006890893	0.00156	T	.	.	.	0.089	0.25827	.	.	0.225215365344	0.22153	0.47201870392917633	0.47120	0.271476130198	0.29669	0.345931947231	0.17321	T	0.02228	0.17204	T	-0.554188	0.00275	T	-0.559434	0.16430	T	0.0232514970083528	0.01053	T	0.666633	0.32360	T	0.20730224	0.42931	0.21042201	0.45428	0.20730224	0.42931	0.21042201	0.45427	-3.929	0.22738	T	.	.	0.123	0.27732	B	.;.;.;.;.	.;.;.;.;.	1.855932	0.23579	16.07	0.94667745912501455	0.25290	0.97962	0.78461	D	AEFI	0.644355	0.62064	D	-0.560573041755487	0.20153	1.060337	-0.492498746229914	0.22359	1.214074	0.999965506094033	0.48965	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	3.57	3.57	0.40014	4.580000	0.60654	0.739000	0.21146	-0.120000	0.14102	1.000000	0.71638	0.001000	0.17328	0.011000	0.09372	0.0:0.0:1.0:0.0	15.712	0.77402	911	0.21964	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2309.33	35	chr3	146454096	.	G	C	2309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.13;DP=796;ExcessHet=0;FS=3.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.56;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	18	0	1	0
chr3	146593988	146593988	G	A	exonic	PLSCR5	.	stopgain	PLSCR5:NM_001085420:exon4:c.C385T:p.R129X,PLSCR5:NM_001321245:exon4:c.C349T:p.R117X	.	430	1070	21	1	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0015	0.0001	0.0017	0	0	0.0007	0.0045	0.0064	0.0013519	209	154602	rs182408490	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0055	0.0053	0.0002	0.0015	0.0002	2.52e-05	0.0003	0.0066	0.0003	0.0017	0.0059	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0006	0.0056	0.0049	9.636e-05	0	0.0016	0.0009	0	0	0.0102	0.0006	0	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.074	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296981	0.82723	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.835174	0.98089	38	0.99838237944328934	0.91886	0.97426	0.74675	D	AEFI	0.158187	0.28381	N	0.751397290095938	0.82997	7.902815	0.596829152603664	0.74710	6.183835	0.999999996134232	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	3.291000	0.51470	3.296000	0.37344	0.676000	0.76740	0.970000	0.34288	0.985000	0.30750	0.927000	0.46353	0.0:0.0:1.0:0.0	19.822	0.96595	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.011364	0.05263	1808.81	33	chr3	146593988	.	G	A	1808.81	.	AC=2;AF=0.053;AN=38;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.66;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	18	1	0	0
chr3	147391160	147391160	T	C	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001243256:exon3:c.A157G:p.T53A,ZIC4:NM_001168378:exon4:c.A925G:p.T309A,ZIC4:NM_001168379:exon4:c.A889G:p.T297A,ZIC4:NM_032153:exon4:c.A775G:p.T259A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0378511751992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.977	0.58535	D	0.989	0.78396	D	0.000233	0.47286	D	0.000000	.	.	.	0.88	0.21560	L	2.73	0.18724	T	-4.38	0.82141	D	0.851	0.86191	-0.7859	0.55967	T	0.131	0.44268	T	9	0.71945995	0.73564	D	0.037851	0.57866	D	0.257	0.56827	0.219	0.14078	0.601225841429	0.59804	0.6908358971097711	0.69023	1.12731222335	0.78490	0.811773061752	0.83763	D	0.605252	0.87408	D	0.00533437	0.52386	T	-0.230114	0.51760	T	0.992853701114655	0.83449	D	0.909209	0.69158	D	0.6355593	0.74594	0.69296795	0.81928	0.6355593	0.74596	0.69296795	0.81929	-12.315	0.90287	D	.	.	0.819	0.79547	P	.;.;.;.;.;.	.;.;.;.;.;.	5.114963	0.85525	28.6	0.99691046898137847	0.79909	0.97901	0.77985	D	AEFDBHCIJ	0.845416	0.76233	D	0.358022894457197	0.59164	4.093633	0.405272495385022	0.61891	4.39593	0.999999999993199	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.85	4.85	0.62375	6.077000	0.70910	7.918000	0.74374	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.434	0.66840	900	0.24599	Zinc finger C2H2-type;.;.;Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3314.81	33	chr3	147391160	.	T	C	3314.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.69;SOR=1.179	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	1	0	0
chr3	148844683	148844683	T	C	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon8:c.T694C:p.F232L	.	438	1075	9	0	0	9	0.0041686	.	.	.	3199619	CPB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0055	0.0155751	0.0122	0.0119	0.0718	0.0383	0.0006	0.0023	0.0099	0.0018	0.0110413	1707	154602	rs73866671	0.0052	0.0052	0.0055	0.0049	0.0592	0.0051	0.0050	0.0573	0.0565	0.0131	0.0592	0.0013	0.0357	0.0005	0.0059	0.0022	0.0062	0.0023	0.0084	0.0084	0.0079	0.0089	0.0400	0.0080	0.0078	0.0355	0.0338	0.0119	0	0.0249	0.0017	0.0400	9.411e-05	0.0068	0.0021	0.0099	0.0033	0.112	0.28900	T	0.198	0.27767	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	N	0.146556	0.983727	0.24861	N	-0.925	0.01302	N	1.79	0.25509	T	0.49	0.07444	N	0.153	0.15749	-1.0421	0.16681	T	0.006	0.02206	T	10	0.0076907873	0.00175	T	.	.	.	0.124	0.34239	0.722	0.85673	.	.	0.8108561223526667	0.81040	0.230685163225	0.25618	0.520207822323	0.41656	T	0.040412	0.25519	T	-0.532169	0.00373	T	-0.489305	0.23464	T	0.0203023193476111	0.00730	T	0.507849	0.20265	T	0.43253073	0.62917	0.21916755	0.46646	0.43253073	0.62918	0.21916755	0.46645	-0.253	0.00452	T	.	.	0.564	0.68479	A	.;.;.	.;.;.	1.715739	0.21842	15.37	0.97993574251112581	0.37423	0.93201	0.57589	D	AEFI	0.749395	0.69084	D	-0.545118508627888	0.20637	1.089359	-0.296155887677446	0.28225	1.572031	0.159999231080481	0.17578	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	4.62	0.56946	4.979000	0.63525	4.566000	0.43861	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.8662:0.0:0.0:0.1338	12.057	0.52838	521	0.74284	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	722.33	38	chr3	148844683	.	T	C	722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.652;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.011;SOR=0.58	GT:AD:DP:GQ:PL	0/1:39,29:68:99:736,0,1113	18	0	1	0
chr3	149050327	149050327	C	G	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon15:c.G1519C:p.V507L,HLTF:NM_001318935:exon15:c.G1522C:p.V508L,HLTF:NM_003071:exon15:c.G1522C:p.V508L,HLTF:NM_139048:exon15:c.G1522C:p.V508L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0439677558881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.931e-07	6.841e-07	0	1.392e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.678e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.574	0.08685	T	0.15	0.27995	B	0.087	0.29615	B	.	.	.	.	0.967189	0.38578	D	1.345	0.33447	L	-3.37	0.94114	D	-0.22	0.10480	N	0.096	0.08506	0.186	0.85674	D	0.678	0.88877	D	9	0.26365924	0.43845	T	0.043968	0.61252	D	0.256	0.56694	0.54	0.65161	0.960386095974	0.95996	0.3920947321579241	0.39124	0.535463457308	0.50911	0.618199467659	0.55474	T	0.232642	0.59925	T	0.039675	0.57004	T	-0.180786	0.56451	T	0.388529142940372	0.28509	T	0.89841	0.64469	D	0.077795774	0.17678	0.13647489	0.32647	0.077795774	0.17678	0.13647489	0.32646	-4.939	0.36171	T	.	.	0.491	0.64192	A	.;.;.;.	.;.;.;.	3.179545	0.43155	21.7	0.97927649426124697	0.36935	0.79117	0.39145	D	AEFBI	0.114009	0.22472	N	0.0261251517574081	0.43045	2.605262	0.210582949575582	0.50435	3.23546	0.996392646164195	0.34715	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	1.880000	0.39263	7.560000	0.60459	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9202:0.0:0.0798	12.069	0.52905	906	0.23090	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	37	chr3	149050327	.	C	G	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.732;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.393;SOR=0.713	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1201,0,799	18	0	1	0
chr3	149140178	149140178	C	T	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.C392T:p.P131L	Hermansky-Pudlak syndrome 3	0	1519	3	0	0	3	0.000986518	.	.	YES	888165	Hermansky-Pudlak_syndrome_3|not_specified|not_provided	MONDO:MONDO:0013555,MedGen:C3888001,OMIM:614072,Orphanet:231512,Orphanet:79430|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.779	0.130990766981	.	0.00119808	0.0002	0	8.637e-05	0.0002	0	5.998e-05	0	0.0008	0.0002329	36	154602	rs577273287	0.0001	0.0001	7.079e-05	0.0001	0.0010	8.915e-05	8.399e-05	0.0008	0.0008	0	0.0005	0	0	0	0.0005	2.608e-05	9.935e-05	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.715e-05	0.0004	0.0003	2.407e-05	0	0.0007	0	0	0	0	0.0001	0	0.0010	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.054697	1	0.81001	D	2.515	0.73286	M	-1.01	0.76168	T	-7.61	0.95366	D	0.881	0.87917	0.333	0.88070	D	0.642	0.87477	D	10	0.2632987	0.43806	T	0.130991	0.81320	D	0.779	0.92623	0.561	0.68093	0.966122989864	0.96575	0.8477761004963824	0.84738	0.597952910678	0.54975	0.642516732216	0.58922	T	0.806518	0.95119	D	0.0841198	0.62519	D	0.291708	0.87777	D	0.50471305847168	0.32802	D	0.928707	0.73770	D	0.62234986	0.73889	0.58985394	0.76204	0.62234986	0.73890	0.58985394	0.76205	-10.434	0.76467	D	0.9453345539821836	0.97969	0.395	0.59285	A	.	.	4.561104	0.71881	25.7	0.99881491288956803	0.95733	0.99368	0.95115	D	AEFBI	0.757601	0.69650	D	0.755159421830618	0.83240	7.965923	0.709506226954916	0.83099	7.934085	0.999999999912062	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	6.393000	0.73149	7.605000	0.61698	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:1.0:0.0:0.0	19.869	0.96841	929	0.16858	Hermansky-Pudlak syndrome 3 protein, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2864.33	33	chr3	149140178	.	C	T	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=868;ExcessHet=0;FS=4.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.376;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	18	0	1	0
chr3	149140447	149140447	G	A	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661A:p.V221I	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	1881855	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0233615148823	.	.	2.489e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs143063861	1.164e-05	1.163e-05	1.499e-05	8.26e-06	0.0003	7.09e-06	5.8e-06	0.0002	0.0001	0.0003	8.964e-05	0	0	0	0	9.002e-07	3.314e-05	0	0.0001	0.0001	0.0001	0.0001	0.0004	7.581e-05	6.285e-05	0.0003	0.0002	0.0004	0	6.545e-05	0	0	0	0	0	0	0	0.157	0.23997	T	0.458	0.12668	T	0.002	0.09854	B	0.004	0.10090	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.08	0.63911	T	-0.3	0.11913	N	0.172	0.18376	-1.0305	0.20292	T	0.112	0.40075	T	10	0.047745645	0.04132	T	0.023362	0.46316	T	0.021	0.04004	.	.	0.485275477626	0.48159	0.1403249545493893	0.13955	0.474521150152	0.46639	0.284571111202	0.08138	T	0.086197	0.37672	T	-0.503186	0.00549	T	-0.591818	0.13510	T	0.0320944599807262	0.02321	T	0.627137	0.24302	T	0.023032779	0.01011	0.035012756	0.02673	0.023032779	0.01010	0.035012756	0.02672	-3.418	0.15300	T	0.3356839481455061	0.43360	0.071	0.03773	B	.	.	1.066231	0.14482	11.05	0.93617748478542118	0.23484	0.06008	0.11973	N	AEFGBI	0.047024	0.07874	N	-1.08296411548186	0.06956	0.3217651	-1.03893290378048	0.08939	0.4420479	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	538.67	73	chr3	149140447	.	G	A	538.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.872;DP=1351;ExcessHet=0.3672;FS=95.1;InbreedingCoeff=-0.1015;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.9;SOR=9.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:59:.:.:0,59,1626:.	17	0	1	1
chr3	149140447	149140447	G	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661C:p.V221L	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.025739431246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.209	0.26798	T	0.079	0.24468	B	0.028	0.21332	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.02	0.62918	T	-0.49	0.15578	N	0.235	0.26475	-0.9940	0.31565	T	0.154	0.48412	T	10	0.08933401	0.15465	T	0.025739	0.48694	D	0.031	0.07369	0.24	0.17218	0.609694075345	0.60655	0.2119832897861091	0.21114	0.524358026389	0.50121	0.327225655317	0.14515	T	0.093969	0.39320	T	-0.231716	0.16421	T	-0.570621	0.15393	T	0.0895576784528686	0.11166	T	0.751925	0.37414	T	0.03419477	0.03792	0.046344537	0.06438	0.03419477	0.03791	0.046344537	0.06438	-3.021	0.10409	T	0.15839746414402936	0.19190	0.091	0.13080	B	.	.	1.144967	0.15324	11.76	0.95015166124385597	0.25991	0.18357	0.20227	N	AEFGBI	0.095109	0.19220	N	-0.944638851462693	0.09814	0.4661255	-0.950657822332143	0.10908	0.55243	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	538.67	73	chr3	149140447	.	G	C	538.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.872;DP=1351;ExcessHet=0.3672;FS=95.1;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.9;SOR=9.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:59:.:.:0,59,1626:.	16	0	2	1
chr3	149186675	149186675	G	A	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon11:c.C1922T:p.S641L	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1445641	Inborn_genetic_diseases|Deficiency_of_ferroxidase	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.343	0.158256372874	.	.	6.59e-05	0	0	0.0001	0	0.0001	0	0	5.17e-05	8	154602	rs758412535	1.094e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	2.519e-05	0	0.0002	1.079e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.226	0.29740	T	.	.	.	.	.	.	0.074327	0.21291	N	0.518405	1	0.08975	N	.	.	.	-6.59	0.99734	D	-2.49	0.54864	N	0.161	0.16864	0.880	0.95409	D	0.928	0.97635	D	10	0.20345509	0.36501	T	0.158256	0.83869	D	0.343	0.66488	.	.	0.851967921838	0.85054	0.7092465032520435	0.70866	0.0873131275209	0.09842	0.318350762129	0.13171	T	0.034671	0.23413	T	-0.0797004	0.39763	T	-0.160578	0.58300	T	0.0525412611679216	0.05941	T	0.806319	0.45525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.08997	B	.;.	.;.	2.086341	0.26537	17.15	0.98920414240902499	0.48546	0.10358	0.15887	N	AEFGBCIJ	0.371043	0.45719	N	-0.612801685938015	0.18559	0.9644861	-0.537690453193134	0.21132	1.141814	0.980907037576806	0.30192	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.81	3.99	0.45527	1.265000	0.32629	0.976000	0.23092	0.618000	0.50648	0.008000	0.17931	0.000000	0.08366	0.948000	0.49324	0.1491:0.0:0.716:0.1349	7.648	0.27501	903	0.23940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	34	chr3	149186675	.	G	A	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=827;ExcessHet=0;FS=1.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.306;SOR=0.571	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1452	18	0	1	0
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S,WWTR1:NM_015472:exon5:c.A853T:p.T285S,WWTR1:NM_001168278:exon6:c.A853T:p.T285S,WWTR1:NM_001348362:exon8:c.A853T:p.T285S	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.012228	0.029240	0.000000	0.000000	0.015244	0.041667	0.05263	1029.83	34	chr3	149527888	.	T	A	1029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.702;DP=701;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.21;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	17	0	2	0
chr3	149767173	149767173	A	G	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon5:c.T1489C:p.C497R,ANKUB1:NM_001315505:exon5:c.T1051C:p.C351R,ANKUB1:NM_001315506:exon5:c.T1489C:p.C497R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	0.0117812	0.0056	0.0355	0.0056	0	0	0.0001	0	0.0005	0.0010867	168	154602	rs16862234	0.0009	0.0009	0.0011	0.0008	0.0346	0.0009	0.0009	0.0328	0.0321	0.0346	0.0014	0.0001	0	0	0.0032	5.886e-05	0.0022	0.0001	0.0097	0.0097	0.0100	0.0093	0.0336	0.0093	0.0091	0.0322	0.0316	0.0336	0	0.0031	0.0009	0	0	0	0.0002	0.0066	0	0.004	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999951	0.81001	D	.	.	.	1.39	0.33842	T	-3.4	0.67014	D	0.73	0.73105	-1.0863	0.06173	T	0.027	0.11529	T	9	0.006714225	0.00152	T	.	.	.	0.194	0.47447	.	.	0.523392987388	0.51985	0.3114380724980516	0.31056	.	.	0.523485541344	0.42117	T	.	.	.	-0.466864	0.00890	T	-0.417632	0.31348	T	0.0367121084652391	0.03105	T	0.59544	0.22079	T	0.79726297	0.83731	0.762415	0.85964	0.79726297	0.83733	0.762415	0.85964	-1.93	0.03250	T	.	.	0.688	0.72450	P	.;.	.;.	3.666968	0.52120	23.2	0.9949044448513249	0.67403	0.96168	0.67845	D	AEFBI	0.754703	0.69450	D	0.416690539321462	0.62339	4.448288	0.472506233112305	0.66174	4.917932	0.56386574764026	0.21436	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	4.206000	0.58271	8.919000	0.78393	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	13.980	0.63811	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004274	0.006250	0.010204	0.004630	0.000000	0.000000	0.000000	0.000000	0.02632	1050.33	33	chr3	149767173	.	A	G	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.145;DP=729;ExcessHet=0;FS=2.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.818;SOR=1.04	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	18	0	1	0
chr3	149780310	149780310	T	C	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon3:c.A380G:p.Y127C,ANKUB1:NM_001315506:exon3:c.A380G:p.Y127C	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0096	0.00259585	0.0065	0.0028	0.0048	0	0.0074	0.0109	0.0164	0.0028	0.002238	346	154602	rs62622807	0.0092	0.0088	0.0093	0.0090	0.0104	0.0090	0.0090	0.0103	0.0102	0.0017	0.0051	0.0059	5.596e-05	0.0085	0.0028	0.0104	0.0079	0.0038	0.0071	0.0071	0.0075	0.0066	0.0110	0.0067	0.0066	0.0104	0.0101	0.0017	0.0164	0.0069	0.0061	0	0.0078	0.0034	0.0110	0.0076	0.0033	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.036746	0.24484	N	0.344622	0.626684	0.30734	N	1.845	0.48678	L	1.59	0.28836	T	-4.27	0.77308	D	0.535	0.60241	-0.9800	0.35002	T	0.059	0.24871	T	10	0.009616643	0.00217	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.6313377433510485	0.63067	.	.	0.464682281017	0.33951	T	0.119024	0.44027	T	-0.479141	0.00748	T	-0.449998	0.27697	T	0.0280924054870064	0.01701	T	0.824917	0.49388	T	0.1765746	0.38577	0.19020109	0.42409	0.1765746	0.38577	0.19020109	0.42408	-6.139	0.48165	T	.	.	0.345	0.57261	A	.;.	.;.	4.040737	0.59821	24.1	0.99617837872995507	0.75233	0.65854	0.32878	D	AEFGBI	0.259308	0.37768	N	0.110943789790052	0.46974	2.929609	0.0792487679677218	0.43505	2.650986	0.999044745899756	0.38290	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	2.57	0.29928	1.470000	0.34963	5.183000	0.47871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.4138:0.0:0.0:0.5862	9.733	0.39540	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1407.33	35	chr3	149780310	.	T	C	1407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.234;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr3	149968529	149968529	C	T	exonic	PFN2	.	nonsynonymous SNV	PFN2:NM_002628:exon2:c.G154A:p.V52I,PFN2:NM_053024:exon2:c.G154A:p.V52I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0159572332623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.28900	T	0.189	0.37310	T	0.007	0.19245	B	0.009	0.14300	B	0.026221	0.25958	N	0.440690	0.932823	0.81001	D	0.795	0.19620	N	-2.11	0.86888	D	-0.63	0.19085	N	0.259	0.33578	-0.4138	0.71589	T	0.393	0.74641	T	10	0.24845102	0.42141	T	0.015957	0.36975	T	0.199	0.48268	0.493	0.58048	0.546836033694	0.54339	0.7340708309852572	0.73352	0.96515572476	0.73150	0.686116635799	0.65147	T	0.405111	0.76138	T	-0.100723	0.36305	T	-0.382458	0.35434	T	0.492427051067352	0.32353	T	0.862114	0.55677	D	0.10226245	0.24163	0.09642907	0.22912	0.10226245	0.24162	0.09642907	0.22912	-3.047	0.10696	T	.	.	0.096	0.22135	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.588335	0.50618	23.0	0.98956341352744948	0.49246	0.77955	0.38392	D	AEFDBHCI	.	.	.	-0.220370960934859	0.32298	1.820033	-0.0285801526218841	0.38428	2.263993	0.999982751229931	0.51787	0.542737	0.22433	0	0.627608	0.54475	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.42	4.53	0.55009	3.133000	0.50225	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8517:0.0:0.1483	10.719	0.45226	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	638.33	34	chr3	149968529	.	C	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.722;SOR=0.583	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr3	150410374	150410374	C	T	exonic	TSC22D2	.	nonsynonymous SNV	TSC22D2:NM_001303264:exon1:c.C1024T:p.P342S,TSC22D2:NM_014779:exon1:c.C1024T:p.P342S	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0076321161382	0.0003	0.000399361	0.0011	0	0.0031	0	0	0.0013	0	0.0003	0.0008021	124	154602	rs201624303	0.0006	0.0006	0.0006	0.0007	0.0185	0.0006	0.0006	0.0156	0.0146	0.0005	0.0018	0.0025	0	0	0.0185	0.0005	0.0011	0.0001	0.0006	0.0006	0.0007	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0001	0	0.0013	0.0020	0	0	0.0377	0.0007	0.0028	0.0002	0.054	0.38633	T	0.143	0.33219	T	0.099	0.25639	B	0.055	0.25995	B	0.065523	0.21874	N	0.379920	0.902866	0.36214	D	1.39	0.34934	L	1.52	0.30669	T	-1.92	0.44657	N	0.097	0.07811	-1.0560	0.12776	T	0.052	0.22153	T	10	0.003964931	0.00076	T	0.007632	0.20246	T	0.030	0.07022	.	.	0.0675242888579	0.06100	0.3004463357521972	0.29957	.	.	0.592732131481	0.51880	T	0.009947	0.09021	T	-0.53234	0.00372	T	-0.54471	0.17836	T	0.0600328401745895	0.07174	T	0.789521	0.42989	T	0.13773008	0.31879	0.11777066	0.28430	0.13773008	0.31878	0.11777066	0.28429	-4.257	0.27570	T	.	.	0.065	0.01834	B	.	.	1.587164	0.20305	14.69	0.99076738980367907	0.51858	0.23049	0.21949	N	ALL	0.171704	0.29869	N	-0.503662913502919	0.21962	1.169307	-0.436769850692242	0.23925	1.307418	0.999999999999998	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.78	3.78	0.42629	0.713000	0.25464	1.117000	0.24210	0.591000	0.32079	0.012000	0.18695	0.271000	0.24048	0.146000	0.20164	0.0:1.0:0.0:0.0	15.433	0.74838	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011111	0.025510	0.006793	0.029240	0.000000	0.008621	0.006098	0.003788	0.02632	1735.33	35	chr3	150410374	.	C	T	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.535;DP=952;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.608;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	18	0	1	0
chr3	150411052	150411052	G	T	exonic	TSC22D2	.	nonsynonymous SNV	TSC22D2:NM_001303264:exon1:c.G1702T:p.A568S,TSC22D2:NM_014779:exon1:c.G1702T:p.A568S	.	428	1091	3	0	0	3	0.001373	.	.	.	2473312	Keratoconus	Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0104317837359	0.0012	0.000399361	0.0014	0.0006	0.0007	0	0.0002	0.0023	0.0022	0.0002	0.001423	220	154602	rs151080920	0.0019	0.0019	0.0019	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0004	0.0007	0.0031	0	0.0003	0.0005	0.0022	0.0014	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0003	0.0023	0	0	0	0.0021	0.0014	0.0002	0.009	0.57480	D	0.395	0.15255	T	0.958	0.54977	D	0.518	0.48133	P	0.045921	0.23488	N	0.289980	1	0.08975	N	1.61	0.41143	L	1.39	0.33842	T	-1.14	0.29323	N	0.204	0.22614	-1.0054	0.28337	T	0.102	0.37768	T	10	0.010551751	0.00234	T	0.010432	0.26958	T	0.074	0.21613	.	.	0.0675242888579	0.06100	0.24174690199234644	0.24088	.	.	0.352105677128	0.18232	T	0.00632	0.05755	T	-0.484546	0.00696	T	-0.474341	0.25049	T	0.0261150068513846	0.01421	T	0.807619	0.45757	T	0.12007663	0.28263	0.09104731	0.21385	0.12007663	0.28262	0.09104731	0.21384	-4.782	0.34380	T	.	.	0.075	0.05535	B	.	.	2.387288	0.30655	18.50	0.99600792960974316	0.74219	0.44275	0.27282	N	ALL	0.596434	0.59060	D	0.131265044272749	0.47926	3.011554	0.204734598577668	0.50110	3.206511	0.999999999997388	0.74766	0.789315	0.99827	0	0.504199	0.08210	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	4.5	4.5	0.54382	1.939000	0.39841	9.425000	0.80773	-0.119000	0.14319	0.013000	0.18845	1.000000	0.68203	0.637000	0.32341	0.0:0.0:1.0:0.0	16.831	0.85808	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3082.33	49	chr3	150411052	.	G	T	3082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=1203;ExcessHet=0;FS=2.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.556;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	18	0	1	0
chr3	150666831	150666831	C	A	exonic	ERICH6	.	nonsynonymous SNV	ERICH6:NM_001308234:exon13:c.G1246T:p.A416S,ERICH6:NM_152394:exon13:c.G1684T:p.A562S	.	.	.	.	.	.	.	.	.	.	.	3668326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00590066931616	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770279340	3.01e-05	3.01e-05	2.314e-05	3.713e-05	3.777e-05	2.282e-05	2.032e-05	2.828e-05	2.507e-05	0	0	0	0	0	0	3.777e-05	3.312e-05	0	1.314e-05	1.313e-05	0	2.691e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.184	0.24955	T	0.148	0.33219	T	0.998	0.73220	D	0.934	0.66904	D	0.000007	0.62929	D	0.000000	0.942112	0.37359	D	2.26	0.64354	M	2.7	0.12162	T	-1.49	0.39119	N	0.402	0.44283	-1.1304	0.01763	T	0.069	0.28379	T	10	0.25123358	0.42460	T	0.005901	0.15371	T	0.116	0.32463	0.334	0.32167	0.195762928549	0.19159	0.29541956389722807	0.29454	0.529981694492	0.50551	0.514487683773	0.40851	T	0.033037	0.22746	T	-0.197092	0.21225	T	-0.520885	0.20204	T	0.928105592727661	0.59135	D	0.770023	0.39993	T	0.18192247	0.39385	0.15890042	0.37084	0.18192247	0.39385	0.15890042	0.37084	-5.471	0.41596	T	.	.	0.251	0.48572	B	.;.	.;.	4.373544	0.67350	25.1	0.99755824795104919	0.84615	0.85480	0.44616	D	AEFBI	0.431097	0.49353	N	0.596449647123223	0.72951	5.887514	0.605295479030849	0.75324	6.290373	0.990166614599036	0.32060	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	5.41	0.78313	3.593000	0.53747	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1615:0.8385:0.0:0.0	13.013	0.58145	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	873.33	35	chr3	150666831	.	C	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=1.6;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	18	0	1	0
chr3	150669424	150669424	A	-	exonic	ERICH6	.	frameshift deletion	ERICH6:NM_001308234:exon12:c.933delT:p.R312Efs*6,ERICH6:NM_152394:exon12:c.1371delT:p.R458Efs*6	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0006	9.61e-05	0.0007	0	0	0.0009	0.0011	0.0004	0.0003074	8	26028	rs758495871	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0007	0.0007	8.968e-05	0.0009	0.0016	2.522e-05	3.744e-05	0.0014	0.0007	0.0011	0.0005	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0002	0.0012	0	9.436e-05	0.0068	0.0007	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.005051	0.005435	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	2307.29	33	chr3	150669423	.	GA	G	2307.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=2.09;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr3	151338390	151338390	C	T	exonic	P2RY12	.	nonsynonymous SNV	P2RY12:NM_176876:exon2:c.G456A:p.M152I,P2RY12:NM_022788:exon3:c.G456A:p.M152I	Bleeding disorder, platelet-type, 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0122811956081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.125	0.35330	T	0.592	0.39119	P	0.348	0.42747	B	0.000000	0.84330	D	0.043353	1	0.81001	D	1.81	0.47622	L	1.26	0.36330	T	-1.82	0.42763	N	0.676	0.68342	-1.0928	0.05082	T	0.101	0.37417	T	10	0.72169137	0.73705	D	0.012281	0.30711	T	0.105	0.29889	0.619	0.75347	0.69744551405	0.69483	0.4648151446565921	0.46400	0.556522500148	0.52305	0.515333116055	0.40970	T	0.155194	0.49681	T	-0.0749744	0.40528	T	-0.345472	0.39722	T	0.874809145927429	0.52466	D	0.863614	0.55989	D	0.5548044	0.70222	0.47463587	0.69553	0.5548044	0.70224	0.47463587	0.69553	-4.78	0.34357	T	.	.	0.770	0.75917	P	.	.	3.728958	0.53327	23.3	0.99377741865365421	0.61759	0.93389	0.58086	D	AEFI	0.628060	0.61029	D	0.267322218766555	0.54501	3.615463	0.378510938125895	0.60241	4.209631	0.999965796806559	0.48965	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	5.41	0.78313	3.763000	0.54969	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.581	0.95460	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2304.33	33	chr3	151338390	.	C	T	2304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.731;DP=813;ExcessHet=0;FS=4.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.681;SOR=1.061	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	18	0	1	0
chr3	151438358	151438358	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.C140T:p.P47L,IGSF10:NM_001178146:exon2:c.C140T:p.P47L,IGSF10:NM_001385061:exon7:c.C6203T:p.P2068L,IGSF10:NM_001385060:exon8:c.C6203T:p.P2068L,IGSF10:NM_178822:exon8:c.C6203T:p.P2068L,IGSF10:NM_001385062:exon9:c.C6203T:p.P2068L,IGSF10:NM_001385063:exon9:c.C6203T:p.P2068L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.034210191563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000341	0.45440	D	0.000000	1	0.81001	D	3.14	0.88230	M	-0.57	0.71307	T	-9.55	0.98488	D	0.63	0.64393	0.714	0.93350	D	0.728	0.90673	D	10	0.9286305	0.92206	D	0.03421	0.55518	D	0.691	0.88773	0.747	0.87821	0.899491837321	0.89849	0.6679274232331618	0.66730	0.183290922129	0.20616	0.59113240242	0.51653	T	0.229573	0.59543	T	0.373449	0.88284	D	0.298657	0.88137	D	0.999926567077637	0.99732	D	0.913509	0.69206	D	0.69505817	0.77786	0.59478515	0.76477	0.69505817	0.77788	0.59478515	0.76478	-13.321	0.90642	D	.	.	0.737	0.74502	P	.	.	4.355419	0.66934	25.0	0.99889344036015648	0.96359	0.99241	0.93311	D	AEFDBI	.	.	.	0.985695943440519	0.95289	13.47912	0.837179406702374	0.92244	11.31662	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	9.540000	0.97163	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:1.0:0.0	19.875	0.96865	814	0.42100	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3221.33	38	chr3	151438358	.	G	A	3221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.785;DP=925;ExcessHet=0;FS=0.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.558;SOR=0.653	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr3	151443470	151443470	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon6:c.G5477A:p.G1826D,IGSF10:NM_001385060:exon7:c.G5477A:p.G1826D,IGSF10:NM_178822:exon7:c.G5477A:p.G1826D,IGSF10:NM_001385062:exon8:c.G5477A:p.G1826D,IGSF10:NM_001385063:exon8:c.G5477A:p.G1826D	.	428	1087	7	0	0	7	0.00320954	.	.	.	800375	Premature_ovarian_failure|not_provided	MONDO:MONDO:0005387,MedGen:C0085215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0154544927008	0.0002	0.000399361	0.0004	9.628e-05	8.646e-05	0.0001	0.0009	0.0002	0	0.0018	0.0003816	59	154602	rs147801336	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0029	0.0024	2.987e-05	8.944e-05	0	0	0.0004	0.0042	0.0001	0.0004	0.0017	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0007	0	0	0.0003	0.0034	0.0002	0	0.0015	0.006	0.61437	D	0.005	0.72224	D	0.002	0.09854	B	0.017	0.18140	B	0.374029	0.13485	N	0.637226	0.985552	0.24700	N	1.385	0.34509	L	-0.3	0.67874	T	-1.89	0.44094	N	0.068	0.04072	-0.9327	0.43740	T	0.201	0.55780	T	9	0.022068024	0.00542	T	0.015454	0.36188	T	0.150	0.39571	.	.	0.612662979051	0.60954	0.6566080735774252	0.65596	0.0295101065631	0.03033	0.274061501026	0.06677	T	0.063312	0.32143	T	-0.463186	0.00939	T	-0.457125	0.26912	T	0.048098911662074	0.05162	T	0.715628	0.32820	T	0.29208627	0.52186	0.39892805	0.64469	0.29208627	0.52186	0.39892805	0.64469	-9.651	0.71796	D	.	.	0.144	0.31758	B	.	.	1.972092	0.25051	16.62	0.94083987058924379	0.24236	0.05904	0.11855	N	AEFDCI	0.503769	0.53562	D	-0.566209853220989	0.19979	1.049805	-0.494440533920402	0.22306	1.210924	0.99778833426933	0.36027	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.41	0.28644	4.014000	0.56857	3.298000	0.37359	-0.326000	0.05813	1.000000	0.71638	0.998000	0.33993	0.950000	0.49671	0.1466:0.2502:0.6032:0.0	7.738	0.27990	813	0.42397	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2485.33	192	chr3	151443470	.	C	T	2485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.282;SOR=0.694	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1365	18	0	1	0
chr3	151445177	151445177	C	A	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.G4804T:p.E1602X,IGSF10:NM_001385060:exon6:c.G4804T:p.E1602X,IGSF10:NM_178822:exon6:c.G4804T:p.E1602X,IGSF10:NM_001385062:exon7:c.G4804T:p.E1602X,IGSF10:NM_001385063:exon7:c.G4804T:p.E1602X	.	436	1084	2	0	0	2	0.000921659	.	.	.	733877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00279553	0.0026	0.0004	0.0019	0.0037	0.0003	0.0026	0.0011	0.0053	0.0026843	415	154602	rs79363433	0.0035	0.0035	0.0033	0.0036	0.0062	0.0034	0.0033	0.0056	0.0054	0.0004	0.0015	0.0012	0.0062	0.0002	0.0016	0.0036	0.0033	0.0054	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0033	0.0028	0.0006	0.0022	0.0018	0.0012	0.0044	0	0.0102	0.0032	0.0014	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.215678	0.16259	N	0.511109	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410788	0.57187	T	0.287735	0.87534	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.472085	0.95267	34	0.98807294647819333	0.46558	0.35912	0.25412	N	AEFBIJ	0.137410	0.25839	N	0.344421690677322	0.58446	4.016855	0.0533158814760486	0.42233	2.550888	0.99998934215917	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	4.88	0.63131	1.337000	0.33467	1.298000	0.25456	0.599000	0.40250	0.105000	0.22895	0.006000	0.19429	0.006000	0.07323	0.0:0.8493:0.1507:0.0	14.046	0.64225	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	3346.33	34	chr3	151445177	.	C	A	3346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=847;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.094;SOR=0.791	GT:AD:DP:GQ:PL	0/1:74,126:200:99:3360,0,1638	18	0	1	0
chr3	151446956	151446956	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C3025T:p.R1009C,IGSF10:NM_001385060:exon6:c.C3025T:p.R1009C,IGSF10:NM_178822:exon6:c.C3025T:p.R1009C,IGSF10:NM_001385062:exon7:c.C3025T:p.R1009C,IGSF10:NM_001385063:exon7:c.C3025T:p.R1009C	.	428	1086	8	0	0	8	0.00366972	.	.	.	2099438	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.225	.	7.7e-05	0.00459265	0.0034	9.654e-05	0.0003	0	0	0.0002	0.0022	0.0242	0.0029366	454	154602	rs140953154	0.0016	0.0016	0.0009	0.0022	0.0240	0.0015	0.0015	0.0232	0.0228	0	4.472e-05	0	2.519e-05	0	0.0016	8.363e-05	0.0015	0.0240	0.0008	0.0008	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0180	9.625e-05	0	0	0	0	0	0	2.94e-05	0	0.0228	0.003	0.68238	D	0.031	0.53788	D	0.999	0.77913	D	0.642	0.52168	P	0.038104	0.24322	N	0.293803	0.701021	0.33421	D	2.3	0.65703	M	-0.4	0.69287	T	-2.81	0.59389	D	0.352	0.39356	-0.4376	0.70810	T	0.246	0.61459	T	10	0.005230248	0.00114	T	.	.	.	0.225	0.52323	.	.	0.808982704999	0.80719	0.4857493066353003	0.48494	0.13870021875	0.15641	0.190077885985	0.00226	T	0.010772	0.09688	T	-0.30806	0.07919	T	-0.197029	0.54929	T	0.107509240820821	0.13164	T	0.744226	0.36418	T	0.22701162	0.45394	0.14243293	0.33884	0.22701162	0.45394	0.14243293	0.33883	-8.708	0.65798	D	.	.	0.127	0.27039	B	.	.	4.911271	0.80804	27.4	0.99908697256026691	0.97875	0.96516	0.69530	D	AEFBI	0.657212	0.62892	D	0.335311030475802	0.57968	3.966632	0.345015051504374	0.58209	3.990014	0.999996484416945	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.37	5.37	0.76949	5.065000	0.64175	6.360000	0.55506	0.509000	0.23192	1.000000	0.71638	0.999000	0.35428	0.539000	0.29915	0.0759:0.0:0.9241:0.0	13.412	0.60394	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3448.33	34	chr3	151446956	.	G	A	3448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=939;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-1.142;SOR=0.898	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	0	1	0
chr3	151447129	151447129	G	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C2852A:p.T951K,IGSF10:NM_001385060:exon6:c.C2852A:p.T951K,IGSF10:NM_178822:exon6:c.C2852A:p.T951K,IGSF10:NM_001385062:exon7:c.C2852A:p.T951K,IGSF10:NM_001385063:exon7:c.C2852A:p.T951K	.	430	1059	32	1	0	34	0.0157993	.	.	.	1574776	not_provided|IGSF10-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0083	0.00179712	0.0065	0.0017	0.0028	0	0.0036	0.0098	0.0055	0.0033	0.0063065	975	154602	rs34197438	0.0084	0.0084	0.0085	0.0082	0.0114	0.0082	0.0082	0.0094	0.0093	0.0019	0.0032	0.0125	2.519e-05	0.0037	0.0114	0.0096	0.0079	0.0038	0.0058	0.0058	0.0063	0.0053	0.0095	0.0055	0.0054	0.0088	0.0086	0.0016	0	0.0045	0.0104	0.0002	0.0042	0.0034	0.0095	0.0062	0.0023	0.022	0.48642	D	0.021	0.58089	D	0.024	0.19075	B	0.009	0.14300	B	0.376526	0.13450	N	0.617423	1	0.08975	N	1.95	0.52479	M	-0.26	0.67187	T	-1.53	0.37178	N	0.244	0.27554	-1.0495	0.14537	T	0.078	0.31133	T	10	0.0036440492	0.00067	T	.	.	.	0.021	0.04004	.	.	0.415947407303	0.41207	0.3970992224791316	0.39624	0.0788734340217	0.08873	0.23283341527	0.02184	T	0.002737	0.02125	T	-0.491033	0.00641	T	-0.467723	0.25763	T	0.00452521683333631	0.00048	T	0.510449	0.16283	T	0.07119942	0.15745	0.09973796	0.23825	0.07119942	0.15744	0.09973796	0.23825	-3.526	0.16798	T	.	.	0.119	0.24396	B	.	.	0.273608	0.06509	2.991	0.94026698343412329	0.24138	0.03615	0.08851	N	AEFBI	0.095518	0.19297	N	-1.07326612314621	0.07139	0.3307499	-1.07560448843985	0.08182	0.4011916	0.783642499272121	0.23890	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.542086	0.14980	0	.	.	4.61	0.528	0.16282	-0.102000	0.10926	0.222000	0.16086	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.3604:0.0:0.463:0.1766	4.819	0.12747	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.020202	0.014946	0.017544	0.000000	0.008621	0.006098	0.011364	0.02632	3081.33	34	chr3	151447129	.	G	T	3081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1029;ExcessHet=0;FS=5.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.51;SOR=0.858	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	0	1	0
chr3	154429186	154429186	A	C	exonic	GPR149	.	nonsynonymous SNV	GPR149:NM_001038705:exon1:c.T430G:p.S144A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00541288513356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.195	0.28032	T	0.134	0.27266	B	0.031	0.21939	B	0.005059	0.33144	N	0.317631	0.999994	0.08975	N	1.675	0.43121	L	1.64	0.27822	T	-1.13	0.29114	N	0.252	0.28498	-1.0499	0.14425	T	0.043	0.18368	T	10	0.10046756	0.18297	T	0.005413	0.13893	T	0.010	0.01040	0.231	0.15855	0.152612264143	0.14878	0.2685623422855064	0.26769	0.0900557989908	0.10158	0.38711887598	0.23262	T	0.153457	0.49432	T	-0.230087	0.16639	T	-0.56828	0.15607	T	0.150374940554177	0.17133	T	0.390061	0.09662	T	0.122194454	0.28720	0.17284603	0.39569	0.122194454	0.28719	0.17284603	0.39568	-3.793	0.20700	T	.	.	0.077	0.06341	B	.	.	1.265758	0.16637	12.67	0.94334754858933922	0.24671	0.51981	0.29023	D	AEFDBHI	0.131818	0.25089	N	-0.661844559147827	0.17115	0.8780244	-0.65328627276084	0.18134	0.9673674	0.995593489105812	0.34213	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.52	3.0	0.33773	0.371000	0.20182	0.076000	0.14327	0.756000	0.94297	0.477000	0.26777	0.000000	0.08366	0.169000	0.20946	0.5606:0.1118:0.1442:0.1834	2.099	0.03452	886	0.28090	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1596.33	34	chr3	154429186	.	A	C	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=768;ExcessHet=0;FS=2.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.338;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr3	155115078	155115078	G	A	exonic	MME	.	nonsynonymous SNV	MME:NM_000902:exon4:c.G281A:p.R94H,MME:NM_001354642:exon4:c.G281A:p.R94H,MME:NM_001354643:exon4:c.G281A:p.R94H,MME:NM_007287:exon4:c.G281A:p.R94H,MME:NM_007288:exon4:c.G281A:p.R94H,MME:NM_007289:exon4:c.G281A:p.R94H	Charcot-Marie-Tooth disease, axonal, type 2T, Autosomal recessive, Autosomal dominant	429	1091	2	0	0	2	0.000915751	.	.	.	1494879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.0392022550628	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs201870091	8.209e-06	8.209e-06	8.168e-06	8.251e-06	6.709e-05	4.38e-06	3.46e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.324	0.25768	T	0.242	0.34959	T	0.007	0.14184	B	0.006	0.12133	B	0.000116	0.50451	N	0.174911	0.946072	0.37513	D	1.59	0.40313	L	-0.83	0.74159	T	-2.35	0.58248	N	0.232	0.29774	-0.7853	0.56002	T	0.244	0.61319	T	10	0.20761222	0.37063	T	0.039202	0.58675	D	0.367	0.68670	0.532	0.64002	0.707016183132	0.70446	0.41189108995617035	0.41105	0.0767748290938	0.08620	0.340968877077	0.16584	T	0.493205	0.81685	T	-0.00332605	0.51196	T	-0.1457	0.59622	T	0.212274342775345	0.21072	T	0.90121	0.71149	D	0.28747907	0.51758	0.18285663	0.41239	0.28747907	0.51758	0.18285663	0.41238	-6.928	0.53507	T	0.20841513037705736	0.27878	0.102	0.31228	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.658242	0.34622	19.68	0.98433566760580526	0.41431	0.73398	0.35904	D	AEFBCI	0.302771	0.41093	N	-0.457567926898789	0.23484	1.261466	-0.308448353479505	0.27824	1.546766	0.96688775514933	0.28936	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.46	3.68	0.41359	1.786000	0.38326	2.644000	0.33772	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.2966:0.0:0.7034:0.0	8.330	0.31339	822	0.40702	Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1210.33	35	chr3	155115078	.	G	A	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=706;ExcessHet=0;FS=5.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.166;SOR=0.85	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1286	18	0	1	0
chr3	155500718	155500718	C	G	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon13:c.G1745C:p.G582A,PLCH1:NM_001130961:exon13:c.G1745C:p.G582A,PLCH1:NM_001349250:exon13:c.G1745C:p.G582A,PLCH1:NM_001349251:exon14:c.G1781C:p.G594A,PLCH1:NM_001349252:exon14:c.G1781C:p.G594A,PLCH1:NM_014996:exon14:c.G1781C:p.G594A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00534239852325	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746804352	6.174e-06	6.157e-06	6.828e-06	5.513e-06	0.0003	2.91e-06	2.1e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	4.511e-06	3.32e-05	0	2.628e-05	2.627e-05	1.284e-05	4.034e-05	6.545e-05	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0.0032	1.47e-05	0.0005	0	0.275	0.16091	T	0.191	0.30729	T	0.0	0.14184	B	0.003	0.13708	B	0.118041	0.02700	N	1.721060	1	0.08975	N	0.14	0.08730	N	0.75	0.50192	T	-0.98	0.25986	N	0.068	0.04072	-1.0893	0.05650	T	0.064	0.26456	T	10	0.032283932	0.01377	T	0.005342	0.13679	T	0.095	0.27398	0.361	0.36548	0.379193981924	0.37526	0.17938455208870374	0.17857	0.395066701546	0.40657	0.271036565304	0.06277	T	0.03164	0.22134	T	-0.33766	0.05552	T	-0.707316	0.05434	T	0.0239643100649118	0.01140	T	0.832317	0.50011	T	0.038020458	0.04986	0.035317596	0.02761	0.038020458	0.04986	0.035317596	0.02761	-4.052	0.31305	T	.	.	0.061	0.01960	B	.;.;.;.;.	.;.;.;.;.	0.940600	0.13162	9.664	0.90007701868867385	0.19298	0.00632	0.02776	N	AEFI	0.043776	0.06962	N	-1.02799265233753	0.08026	0.3749044	-0.988948139952505	0.10033	0.5027881	0.688395554444937	0.22560	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.66	-0.428	0.11693	-0.111000	0.10778	0.365000	0.17616	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.289:0.2391:0.3192:0.1528	1.496	0.02317	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1172.33	33	chr3	155500718	.	C	G	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=717;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.681;SOR=1.09	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	18	0	1	0
chr3	155596325	155596325	G	A	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon2:c.C97T:p.R33C,PLCH1:NM_001130961:exon2:c.C97T:p.R33C,PLCH1:NM_001349250:exon2:c.C97T:p.R33C,PLCH1:NM_001349251:exon3:c.C133T:p.R45C,PLCH1:NM_001349252:exon3:c.C133T:p.R45C,PLCH1:NM_014996:exon3:c.C133T:p.R45C	.	432	1078	12	0	0	12	0.00553506	.	.	.	3185270	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.211	.	0.0032	0.00339457	0.0041	0.0006	0.0054	0	0.0009	0.0059	0.0044	0.0012	0.0041073	635	154602	rs150143990	0.0051	0.0052	0.0053	0.0050	0.0071	0.0050	0.0050	0.0060	0.0058	0.0006	0.0066	0.0153	0.0001	0.0012	0.0071	0.0056	0.0059	0.0011	0.0042	0.0042	0.0044	0.0040	0.0071	0.0039	0.0038	0.0060	0.0056	0.0008	0	0.0071	0.0164	0	0.0004	0.0034	0.0061	0.0052	0.0010	0.054	0.42487	T	0.012	0.64786	D	0.864	0.68779	P	0.371	0.59428	B	0.307593	0.14490	N	0.639874	0.994407	0.42269	D	1.5	0.37844	L	-0.09	0.64086	T	-1.78	0.42001	N	0.377	0.48596	-0.7512	0.57873	T	0.178	0.52350	T	10	0.010420203	0.00232	T	.	.	.	0.211	0.50185	.	.	0.750385564285	0.74813	0.43437989155751033	0.43354	1.20945217804	0.80786	0.59161734581	0.51722	T	0.246216	0.61564	T	-0.351772	0.04616	T	-0.274347	0.47379	T	0.0216247507308653	0.00867	T	0.962104	0.86445	D	0.074392036	0.16690	0.067561164	0.13994	0.074392036	0.16690	0.067561164	0.13994	-3.409	0.15738	T	.	.	0.117	0.37501	B	.;.;.;.;.	.;.;.;.;.	5.542149	0.91973	32	0.99908449058996118	0.97875	0.90264	0.51303	D	AEFI	0.681610	0.64491	D	0.459950472960491	0.64769	4.739147	0.512021896541662	0.68796	5.270035	0.0818719120363002	0.15885	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	4.46	0.53567	4.528000	0.60294	8.313000	0.76950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1215:0.5731:0.3054	7.487	0.26610	595	0.68488	.;Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.015152	0.004076	0.008772	0.000000	0.000000	0.012195	0.003788	0.02632	1721.33	156	chr3	155596325	.	G	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.366;DP=860;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.6;SOR=0.568	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr3	155829719	155829719	T	G	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001363883:exon3:c.A1145C:p.N382T,SLC33A1:NM_001190992:exon5:c.A1451C:p.N484T,SLC33A1:NM_004733:exon5:c.A1451C:p.N484T	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	290000	not_specified|Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia|Huppke-Brendel_syndrome|Hereditary_spastic_paraplegia_42	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013772,MedGen:C4751114,OMIM:614482,Orphanet:300313|MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00769841663997	0.0022	0.000998403	0.0016	0.0004	0.0008	0.0003	0	0.0025	0.0011	0.0010	0.0018046	279	154602	rs144015992	0.0031	0.0031	0.0032	0.0030	0.0037	0.0030	0.0030	0.0036	0.0036	0.0005	0.0011	0.0014	0.0001	0.0001	0.0007	0.0037	0.0025	0.0011	0.0018	0.0018	0.0023	0.0013	0.0030	0.0016	0.0016	0.0026	0.0025	0.0008	0	0.0016	0.0006	0.0008	9.423e-05	0	0.0030	0.0038	0.0006	0.889	0.05061	T	0.767	0.04523	T	0.002	0.09854	B	0.012	0.16012	B	0.001752	0.38106	N	0.314588	0.999	0.21971	N	-0.08	0.04796	N	-0.59	0.71543	T	-0.43	0.25332	N	0.198	0.21969	-1.0057	0.28247	T	0.079	0.31314	T	10	0.0067625046	0.00153	T	0.007698	0.20431	T	0.101	0.28911	.	.	0.605204069629	0.60204	0.46653806632036554	0.46572	0.391143789511	0.40312	0.493725419044	0.37955	T	0.065709	0.32758	T	-0.476689	0.00774	T	-0.454479	0.27204	T	0.00281897036022858	0.00029	T	0.689931	0.30130	T	0.03867317	0.05195	0.039250873	0.03975	0.047084894	0.07991	0.03893474	0.03872	-1.655	0.02114	T	0.12738842124302793	0.13034	0.080	0.20196	B	.;.;.;.;.	.;.;.;.;.	2.236680	0.28556	17.84	0.93259980320684333	0.22954	0.55883	0.29976	D	AEFBI	0.214549	0.34001	N	-0.768171025183652	0.14145	0.7022363	-0.521494610653492	0.21570	1.167487	0.999957472648713	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	4.51	0.54589	0.878000	0.27770	2.873000	0.35279	0.661000	0.55757	0.217000	0.24502	1.000000	0.68203	0.995000	0.73285	0.0:0.1829:0.1502:0.6669	5.287	0.15018	852	0.35056	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1272.33	34	chr3	155829719	.	T	G	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.849;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	5341.98	127	chr3	155853645	.	G	A	5341.98	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,0:114:99:0|1:155853644_G_C:630,846,3045:155853644	16	0	2	1
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,41:114:99:0|1:155853644_G_C:630,0,2081:155853644	8	0	10	1
chr3	157313724	157313725	CT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167912:exon11:c.1906_1907del:p.H637Ffs*21,VEPH1:NM_024621:exon11:c.1906_1907del:p.H637Ffs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs777623013	2.463e-05	2.463e-05	2.995e-05	1.925e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	1.656e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1541.29	37	chr3	157313723	.	ACT	A	1541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=754;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.592;SOR=0.565	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1403	18	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,38:220:99:0|1:157381266_G_C:979,0,7454:157381266	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,39:221:99:0|1:157381266_G_C:1004,0,7451:157381266	9	0	7	3
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_001167912:exon7:c.1007_1011del:p.D336Vfs*24,VEPH1:NM_024621:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5885.78	34	chr3	157381271	.	AGGTGT	A	5885.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	15	0	4	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5885.78	34	chr3	157381271	.	AGGTG	A	5885.78	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:180,0:220:99:0|1:157381266_G_C:1020,1562,9056:157381266	17	0	2	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	5	0	6	8
chr3	157381273	157381273	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1010G:p.T337S,VEPH1:NM_001167912:exon7:c.C1010G:p.T337S,VEPH1:NM_024621:exon7:c.C1010G:p.T337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00350531858902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.747e-05	0.0022	5.293e-05	4.212e-05	5.704e-05	3.724e-05	3.405e-05	4.408e-05	3.984e-05	3.467e-05	0	0	0	1.905e-05	0	5.704e-05	7.641e-05	1.223e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.09458	T	0.224	0.25907	T	0.001	0.07471	B	0.004	0.10090	B	0.068245	0.21685	N	0.513806	0.999999	0.08975	N	0.97	0.24054	L	1.23	0.36872	T	-0.91	0.24676	N	0.15	0.15328	-1.0676	0.09948	T	0.080	0.31705	T	10	0.15599683	0.29389	T	0.003505	0.07939	T	0.040	0.10527	0.225	0.14960	0.180583059064	0.17676	0.10228205871346645	0.10158	0.0361008489801	0.03815	0.28724116087	0.08522	T	0.044067	0.26699	T	-0.281228	0.10538	T	-0.641741	0.09542	T	0.1442781239748	0.16639	T	0.614539	0.23442	T	0.035869364	0.04304	0.04799097	0.07034	0.035869364	0.04303	0.04799097	0.07033	-4.648	0.32769	T	.	.	0.105	0.20430	B	.;.;.	.;.;.	1.456503	0.18780	13.92	0.62458372572789278	0.06968	0.32891	0.24695	N	AEFDBI	0.174348	0.30148	N	-0.672997241274589	0.16794	0.8587321	-0.590103442945406	0.19750	1.061081	0.998887147635486	0.37891	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.59	0.56297	2.485000	0.44909	4.424000	0.43326	-0.153000	0.12021	0.445000	0.26527	0.993000	0.31925	0.780000	0.36908	0.0:0.1397:0.8603:0.0	15.381	0.74372	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	1096.8	48	chr3	157381273	.	G	C	1096.8	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:180,0:220:99:0|1:157381266_G_C:1020,1562,9056:157381266	11	0	1	7
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1096.8	48	chr3	157381273	.	G	*	1096.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-5.988;DP=3340;ExcessHet=1.3;FS=103.783;InbreedingCoeff=-0.2903;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.08;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	8	0	4	7
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1702.6	48	chr3	157381275	.	G	*	1702.6	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,40:220:99:0|1:157381266_G_C:1020,0,7374:157381266	13	0	4	2
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_001167912:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_024621:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	1702.6	48	chr3	157381275	.	G	GCCCC	1702.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:180,0:220:99:0|1:157381266_G_C:1020,1562,9056:157381266	15	0	2	2
chr3	157381275	157381275	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1008G:p.D336E,VEPH1:NM_001167912:exon7:c.C1008G:p.D336E,VEPH1:NM_024621:exon7:c.C1008G:p.D336E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00635440847357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.135e-06	0.0002	5.489e-06	2.769e-06	5.444e-06	1.49e-06	9.8e-07	1.96e-06	1.29e-06	0	0	0	0	0	0	5.444e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.25873	T	0.051	0.47828	T	0.037	0.20876	B	0.039	0.23607	B	0.000027	0.55875	N	0.155307	0.610768	0.30862	N	1.465	0.36909	L	1.2	0.37405	T	-1.91	0.44471	N	0.329	0.36989	-1.1002	0.04067	T	0.048	0.20632	T	10	0.082680225	0.13672	T	0.006354	0.16696	T	0.085	0.24743	0.307	0.27806	0.117506650769	0.11410	0.22891689739805393	0.22806	0.0443737032538	0.04785	0.632842183113	0.57548	T	0.104774	0.41465	T	-0.210542	0.19303	T	-0.540205	0.18276	T	0.201581314206123	0.20502	T	0.685131	0.29593	T	0.055491958	0.10791	0.073092036	0.15845	0.055491958	0.10791	0.073092036	0.15845	-2.344	0.04911	T	.	.	0.388	0.58913	A	.;.;.	.;.;.	0.953755	0.13297	9.802	0.97893421265121461	0.36690	0.13235	0.17741	N	AEFDBI	0.197331	0.32426	N	-1.3282961693786	0.03355	0.1497388	-1.42487362353296	0.03005	0.1393659	0.999032131386444	0.38264	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	-7.02	0.01433	-0.193000	0.09572	-0.182000	0.11122	-0.106000	0.15538	0.008000	0.17931	0.000000	0.08366	0.779000	0.36868	0.4331:0.2723:0.2946:0.0	7.543	0.26917	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	1702.6	48	chr3	157381275	.	G	C	1702.6	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:180,0:220:99:0|1:157381266_G_C:1020,1562,9056:157381266	16	0	1	2
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_001167912:exon7:c.1006_1007insGGGGG:p.D336Gfs*19,VEPH1:NM_024621:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3348.89	48	chr3	157381276	.	T	TCCCCC	3348.89	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.683;DP=1968;ExcessHet=0.7564;FS=96.049;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.65;ReadPosRankSum=1.12;SOR=10.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,40:207:99:0|1:157381266_G_C:1060,0,6829:157381266	14	0	4	1
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.000000	0.009642	0.008772	0.000000	0.008929	0.009259	0.030534	0.02632	758.33	41	chr3	157437630	.	G	C	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=739;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.703;SOR=0.259	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1319	18	0	1	0
chr3	158122165	158122165	C	T	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271834:exon2:c.C61T:p.R21C,RSRC1:NM_001271838:exon2:c.C61T:p.R21C,RSRC1:NM_016625:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.00889814725774	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148955979	5.541e-06	6.156e-06	4.135e-06	6.961e-06	3.101e-05	2.38e-06	1.72e-06	1.96e-06	1.29e-06	3.101e-05	0	0	0	0	0	5.442e-06	0	1.189e-05	6.577e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.045	0.53426	D	0.997	0.73220	D	0.656	0.55619	P	0.000000	0.84330	D	0.050905	0.999993	0.58761	D	1.32	0.33002	L	.	.	.	-2.73	0.83489	D	0.562	0.63968	-0.4964	0.68780	T	0.279	0.65048	T	9	0.42948604	0.57395	T	0.008898	0.23463	T	0.294	0.61388	.	.	0.691819975625	0.68917	0.36268330038705143	0.36182	0.101183211326	0.11438	0.83138012886	0.86773	D	0.209965	0.57032	T	0.0272289	0.55354	T	-0.198664	0.54773	T	0.925737142562866	0.58762	D	0.790621	0.45053	T	0.4667982	0.65093	0.29942426	0.55976	0.4667982	0.65094	0.29942426	0.55975	-11.409	0.85569	D	.	.	0.405	0.62460	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.955722	0.57980	23.9	0.98248009963681104	0.39548	0.91871	0.54443	D	AEFGBI	0.369266	0.45606	N	0.22450485535523	0.52389	3.41336	0.149672513791695	0.47125	2.94746	0.393575259421834	0.20068	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	3.83	0.43287	3.078000	0.49794	3.257000	0.37065	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.2629:0.7371:0.0:0.0	14.760	0.69220	521	0.74284	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	476.33	27	chr3	158122165	.	C	T	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=586;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.4;SOR=0.714	GT:AD:DP:GQ:PL	0/0:28,0:28:75:0,75,1125	18	0	1	0
chr3	158203173	158203173	G	A	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271838:exon4:c.G422A:p.G141D,RSRC1:NM_016625:exon4:c.G422A:p.G141D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00477597659891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.044	0.91255	D	0.065	0.44702	T	0.354	0.33710	B	0.289	0.40655	B	0.002075	0.37317	N	0.292333	1	0.81001	D	1.095	0.27400	L	.	.	.	-1.75	0.66780	N	0.217	0.29429	-0.9297	0.44183	T	0.118	0.41538	T	9	0.14465183	0.27448	T	0.004776	0.11910	T	0.049	0.13647	0.182	0.09004	0.649436034143	0.64652	0.24992038276425038	0.24906	0.0968026728174	0.10928	0.570001363754	0.48678	T	0.080085	0.41611	T	-0.0299844	0.47420	T	-0.280847	0.46717	T	0.453011495484477	0.30907	T	0.756624	0.52334	T	0.074311055	0.16667	0.12139064	0.29288	0.074311055	0.16666	0.12139064	0.29288	-1.544	0.01856	T	.	.	0.243	0.57180	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.116159	0.26937	17.29	0.99443300288607861	0.64870	0.90329	0.51419	D	AEFGI	0.334258	0.43308	N	-0.120494468398573	0.36501	2.110699	-0.0571478882500645	0.37181	2.173635	5.98132739656101E-4	0.07414	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.04	1.98	0.25351	1.138000	0.31103	1.153000	0.24496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1614:0.583:0.2557	9.32	0.37119	578	0.69858	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	83.33	42	chr3	158203173	.	G	A	83.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.57;DP=683;ExcessHet=0;FS=35.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.515;SOR=4.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr3	159993478	159993478	A	C	exonic	IL12A	.	nonsynonymous SNV	IL12A:NM_001354583:exon3:c.A292C:p.T98P,IL12A:NM_000882:exon4:c.A406C:p.T136P	.	426	1086	8	2	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.00843435092597	.	0.000199681	0.0004	0	0	0	0	0.0002	0	0.0020	0.0003363	52	154602	rs201655135	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0015	0.0015	0	0.0002	0	0	0	0.0016	0.0001	0.0001	0.0018	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0006	0.0005	4.814e-05	0	0.0010	0	0	0	0.0034	0.0002	0	0.0012	0.022	0.48642	D	0.059	0.45961	T	0.952	0.54136	P	0.6	0.50752	P	0.675530	0.10304	N	0.845782	0.999238	0.46406	D	.	.	.	.	.	.	-2.33	0.51646	N	0.17	0.21839	-0.8153	0.54226	T	0.188	0.53886	T	9	0.024997741	0.00708	T	0.008434	0.22307	T	0.529	0.80128	.	.	0.495773158881	0.49211	0.2888499817382312	0.28797	0.439593300517	0.43988	0.31991392374	0.13408	T	0.093031	0.39127	T	-0.31318	0.07470	T	-0.228186	0.51947	T	0.0752771075845379	0.09372	T	0.577942	0.21745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10835	B	.;.	.;.	1.972634	0.25058	16.62	0.98293580775060374	0.39973	0.31389	0.24325	N	AEFBI	0.167280	0.29394	N	-0.0949251910993832	0.37615	2.190934	-0.247640804069643	0.29853	1.675935	0.999196270100104	0.38711	0.57788	0.32782	0	0.546412	0.12157	0	0.491513	0.07944	0	0.421255	0.06892	1	.	.	3.8	2.66	0.30672	0.756000	0.26084	0.632000	0.20237	0.751000	0.87719	0.009000	0.18154	0.015000	0.20450	0.194000	0.21720	0.8789:0.0:0.1211:0.0	5.666	0.16971	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	399.33	31	chr3	159993478	.	A	C	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=650;ExcessHet=0;FS=2.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.25;SOR=0.144	GT:AD:DP:GQ:PL	0/0:44,0:44:90:0,90,1331	18	0	1	0
chr3	160226077	160226077	G	C	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.G442C:p.E148Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.203777019055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.177	0.29740	T	.	.	.	.	.	.	0.016459	0.27975	U	0.227351	0.768599	0.29462	N	0.55	0.14455	N	.	.	.	-0.77	0.21429	N	0.072	0.04547	-0.9706	0.37073	T	0.082	0.32382	T	7	0.109375566	0.20402	T	0.203777	0.86894	D	0.051	0.14325	0.164	0.06842	0.0666544352282	0.05500	0.14887449473041728	0.14809	.	.	.	.	.	0.015197	0.12791	T	-0.164732	0.26033	T	-0.474402	0.25042	T	0.399537265300751	0.28925	T	0.550545	0.18982	T	0.20150469	0.42163	0.122778654	0.29613	0.20150469	0.42163	0.122778654	0.29613	-4.266	0.27697	T	.	.	0.240	0.47426	B	.	.	3.064445	0.41164	21.3	0.99401699628509699	0.62841	0.56202	0.30057	D	AEFDGBHCI	0.268692	0.38513	N	-0.119265612680299	0.36553	2.114487	-0.105881107087998	0.35153	2.030331	0.999997889056431	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.37	3.37	0.37692	1.319000	0.33260	8.898000	0.78364	0.479000	0.22080	0.022000	0.19841	1.000000	0.68203	0.090000	0.17789	0.0:0.0:1.0:0.0	13.645	0.61748	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	34	chr3	160226077	.	G	C	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.025;SOR=0.69	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1047	18	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	225.45	46	chr3	160404347	.	T	C	225.45	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.497;DP=1041;ExcessHet=0.7564;FS=160.418;InbreedingCoeff=-0.1181;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.42;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:56,5:61:67:0|1:160404346_G_C:0,67,2091:160404346	15	0	4	0
chr3	160423518	160423518	C	T	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon13:c.C2113T:p.R705C,SMC4:NM_001002800:exon14:c.C2113T:p.R705C,SMC4:NM_001288753:exon14:c.C2038T:p.R680C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.0723627988006	.	.	8.302e-06	0	0	0	0	0	0	6.061e-05	1.29e-05	2	154602	rs760971978	1.505e-05	1.505e-05	1.634e-05	1.375e-05	3.48e-05	9.85e-06	8.42e-06	9.24e-06	6.89e-06	0	2.236e-05	0	2.521e-05	0	0	1.439e-05	1.656e-05	3.48e-05	1.317e-05	1.314e-05	2.573e-05	0	4.838e-05	2.19e-06	8.2e-07	8.02e-06	3e-06	4.838e-05	0	0	0	0	0	0	0	0	0	0.014	0.54683	D	0.025	0.56192	D	1.0	0.90584	D	0.975	0.73362	D	0.000002	0.62929	D	0.099662	1	0.81001	D	2.905	0.84014	M	-2.16	0.86549	D	-2.51	0.58896	D	0.564	0.58883	0.692	0.93079	D	0.794	0.93018	D	10	0.39175868	0.54942	T	0.072363	0.71512	D	0.721	0.90146	0.632	0.76810	0.922248795929	0.92146	0.7649930140919271	0.76448	0.307190005126	0.33019	0.416585385799	0.27368	T	0.613584	0.87789	D	0.126945	0.67063	D	0.126099	0.78636	D	0.92729252576828	0.59007	D	0.984801	0.94749	D	0.608103	0.73126	0.30246556	0.56278	0.608103	0.73127	0.30246556	0.56277	-8.48	0.64297	D	.	.	0.110	0.29995	B	.;.;.;.	.;.;.;.	5.122113	0.85684	28.7	0.99937805775810284	0.99698	0.95246	0.63981	D	AEFDBI	0.435936	0.49637	N	0.582750483736952	0.72098	5.752601	0.553581319529693	0.71645	5.686774	0.999999931250389	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.09	0.68647	3.088000	0.49873	4.076000	0.41702	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.978000	0.57271	0.1292:0.7359:0.0:0.1348	8.053	0.29749	755	0.51144	RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge;RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge;.;RecF/RecN/SMC, N-terminal|SMCs flexible hinge|SMCs flexible hinge	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1537.33	40	chr3	160423518	.	C	T	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=806;ExcessHet=0;FS=1.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.378;SOR=0.945	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,103,1452	18	0	1	0
chr3	160677917	160677917	C	T	exonic	ARL14	.	stopgain	ARL14:NM_025047:exon1:c.C571T:p.Q191X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.724e-05	0	8.777e-05	0	0	1.545e-05	0	0	1.29e-05	2	154602	rs771563756	1.098e-05	1.094e-05	1.364e-05	8.283e-06	9.016e-05	6.5e-06	5.26e-06	3.001e-05	1.815e-05	0	9.016e-05	0	0	0	0	9.917e-06	1.662e-05	0	3.29e-05	3.284e-05	3.858e-05	2.695e-05	0.0003	1.262e-05	7.99e-06	0.0001	8.29e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.761877	0.06544	U	1.205560	0.925479	0.27191	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34709	0.86311	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.208983	0.97298	37	0.99620114775872926	0.75353	0.35339	0.25279	N	AEFDGBCI	0.172098	0.29911	N	0.97375554759375	0.94880	13.11734	0.822576317194873	0.91318	10.82606	0.999999999928181	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	0.614000	0.24009	3.952000	0.40682	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0:0.8566:0.1434:0.0	14.971	0.70884	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	34	chr3	160677917	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.017;DP=736;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.592;SOR=0.412	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,113,1347	18	0	1	0
chr3	161068925	161068925	T	C	exonic	PPM1L	.	nonsynonymous SNV	PPM1L:NM_001317911:exon4:c.T470C:p.I157T,PPM1L:NM_139245:exon4:c.T851C:p.I284T,PPM1L:NM_001317912:exon5:c.T314C:p.I105T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0436217201411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.878	0.50336	P	0.608	0.51027	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	2.25	0.17761	T	-4.15	0.79659	D	0.678	0.68516	-1.1273	0.01916	T	0.066	0.27191	T	10	0.6439785	0.69218	D	0.043622	0.61079	D	0.577	0.82912	0.704	0.84054	0.650668676097	0.64777	0.8388446482165836	0.83844	2.01238709721	0.93922	0.905140817165	0.96991	D	0.313357	0.68511	T	0.221	0.75880	D	0.0798186	0.75566	D	0.992237508296967	0.82666	D	0.891311	0.62583	D	0.6733357	0.76612	0.6091006	0.77266	0.6733357	0.76613	0.6091006	0.77267	-4.557	0.33730	T	.	.	0.585	0.74595	P	.;.;.	.;.;.	5.025566	0.83546	28.1	0.99815374877051022	0.89885	0.92371	0.55557	D	AEFGBCI	0.889530	0.82370	D	0.536545949963569	0.69268	5.332724	0.565857426673158	0.72508	5.820885	0.999999998598625	0.74766	0.615465	0.37627	0	0.491513	0.07743	0	0.658983	0.55881	0	0.52698	0.09003	0	.	.	5.19	5.19	0.71428	7.650000	0.82668	7.891000	0.73051	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.226	0.65405	643	0.63827	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1620.33	35	chr3	161068925	.	T	C	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.068;DP=801;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.565;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	18	0	1	0
chr3	161249479	161249479	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon14:c.G1229A:p.R410Q,NMD3:NM_015938:exon14:c.G1229A:p.R410Q	.	.	.	.	.	.	.	.	.	.	.	3359163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0114995185514	7.7e-05	.	7.696e-05	9.97e-05	0	0.0001	0.0002	0	0	0.0004	6.47e-05	10	154602	rs369937656	4.253e-05	4.652e-05	3.688e-05	4.825e-05	0.0003	3.386e-05	3.074e-05	0.0002	0.0001	0	0	0	0.0001	0	0.0002	2.883e-05	4.985e-05	0.0003	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.053	0.38863	T	0.056	0.47097	T	0.669	0.62824	P	0.046	0.51761	B	0.000014	0.62929	D	0.156026	1	0.81001	D	2.475	0.71894	M	1.93	0.22881	T	-2.05	0.47514	N	0.688	0.69387	-0.9656	0.38092	T	0.114	0.40536	T	10	0.40929833	0.56113	T	0.011	0.29187	T	0.115	0.32236	.	.	0.501624679856	0.49800	0.38580406853094706	0.38495	0.094433556557	0.10659	0.644528031349	0.59207	T	0.057563	0.30601	T	-0.231001	0.16518	T	-0.263617	0.48462	T	0.248631447553635	0.22811	T	0.974403	0.90895	D	0.20869991	0.43115	0.15698186	0.36728	0.20869991	0.43115	0.15698186	0.36727	-4.488	0.30731	T	.	.	0.329	0.62043	B	.;.;.	.;.;.	4.501380	0.70410	25.5	0.99944243482359807	0.99868	0.96997	0.72096	D	AEFDBCI	0.882806	0.81122	D	0.644927465250098	0.76042	6.413869	0.673804472150647	0.80393	7.289142	0.9999999995538	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	8.904000	0.92204	7.531000	0.59918	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	18.010	0.89143	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr3	161249479	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.223;DP=738;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.119;SOR=0.918	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1224	18	0	1	0
chr3	161503133	161503133	G	A	exonic	OTOL1	.	nonsynonymous SNV	OTOL1:NM_001080440:exon4:c.G625A:p.G209R	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	0.602019184131	0.0007	0.000199681	0.0012	0.0011	0	0	0	0.0020	0	0	0.0003752	58	154602	rs199985412	0.0014	0.0013	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	5.039e-05	5.144e-05	0	0.0007	0.0006	0.0016	0.0012	0.0009	0.0008	0.0008	0.0009	0.0008	0.0016	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0003	0	0	0.0002	0	0.0016	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999002	0.45857	D	3.96	0.96509	H	-6.11	0.99530	D	-5.2	0.83695	D	0.93	0.93487	1.025	0.97621	D	0.987	0.99602	D	10	0.710117	0.72990	D	0.602019	0.96499	D	0.943	0.98816	0.948	0.99368	0.601576847986	0.59839	0.8355351794433269	0.83513	0.0223282141052	0.02243	0.762776136398	0.76343	T	0.424669	0.77503	T	0.233523	0.77051	D	0.558672	0.95814	D	0.141914642215613	0.16439	T	0.995467	0.98429	D	0.767931	0.81924	0.7667565	0.86224	0.767931	0.81926	0.7667565	0.86225	-12.72	0.88176	D	.	.	0.779	0.76326	P	.	.	4.324563	0.66219	24.9	0.99922751731550785	0.98852	0.99462	0.96329	D	AEFI	0.842896	0.75997	D	0.777662999592875	0.84690	8.358903	0.679013683780137	0.80789	7.377468	0.168234363307228	0.17696	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	9.232000	0.94431	11.470000	0.92855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.0:0.0:1.0:0.0	17.137	0.86621	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001556	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003937	0.02632	2159.33	35	chr3	161503133	.	G	A	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=774;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.944;SOR=1.03	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1264	18	0	1	0
chr3	165059224	165059224	G	C	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon11:c.C1222G:p.L408V	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.334027818939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.924	0.51285	P	0.889	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.19	0.49352	N	0.686	0.69213	0.982	0.96888	D	0.903	0.96789	D	10	0.83913934	0.83068	D	0.334028	0.91831	D	0.739	0.90939	0.691	0.82843	0.741087402981	0.73877	0.566995531822616	0.56627	0.194225081393	0.21761	0.499023616314	0.38692	T	0.340846	0.70982	T	0.19038	0.72998	D	0.0356912	0.72647	D	0.977200090885162	0.71729	D	0.829517	0.49484	T	0.84004134	0.86611	0.7030806	0.82500	0.84004134	0.86613	0.7030806	0.82501	-10.722	0.78111	D	.	.	0.515	0.65256	A	.	.	4.267495	0.64907	24.8	0.99845696734703004	0.92576	0.99060	0.90640	D	AEFI	0.935272	0.92990	D	0.728317240559586	0.81488	7.534111	0.696877462813716	0.82140	7.694244	0.999999081021576	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.748000	0.83977	5.875000	0.50578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	19.576	0.95438	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	158.33	39	chr3	165059224	.	G	C	158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.305;DP=1042;ExcessHet=0;FS=222.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.25;SOR=8.581	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	18	0	1	0
chr3	165188532	165188532	A	T	exonic	SLITRK3	.	nonsynonymous SNV	SLITRK3:NM_001318810:exon2:c.T2299A:p.S767T,SLITRK3:NM_001318811:exon2:c.T2299A:p.S767T,SLITRK3:NM_014926:exon2:c.T2299A:p.S767T	.	432	1064	25	1	0	27	0.012529	.	.	.	2825046	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00500885179933	0.0075	0.00459265	0.0050	0.0079	0.0050	0	0.0011	0.0066	0.0055	0.0010	0.0050387	779	154602	rs114564937	0.0057	0.0057	0.0058	0.0057	0.0234	0.0056	0.0056	0.0202	0.0190	0.0076	0.0069	0.0127	2.519e-05	0.0013	0.0234	0.0060	0.0082	0.0010	0.0066	0.0066	0.0068	0.0065	0.0113	0.0063	0.0062	0.0099	0.0094	0.0068	0	0.0113	0.0104	0	0.0011	0.0510	0.0067	0.0123	0.0013	0.593	0.05755	T	0.766	0.04539	T	0.0	0.02946	B	0.003	0.08700	B	0.109454	0.19484	N	0.274210	1	0.08975	N	0	0.06538	N	0.69	0.51714	T	-0.28	0.11547	N	0.099	0.10911	-1.0681	0.09836	T	0.029	0.12497	T	10	0.0052300096	0.00114	T	0.005009	0.12660	T	0.008	0.00669	.	.	0.289831133145	0.28582	0.3365773162473722	0.33570	0.182540845117	0.20516	0.445128530264	0.31278	T	0.015192	0.12791	T	-0.631665	0.00093	T	-0.670725	0.07562	T	0.00067123491512401	0.00006	T	0.410359	0.10588	T	0.049547575	0.08816	0.029576747	0.01311	0.049547575	0.08815	0.029576747	0.01311	-4.119	0.25569	T	.	.	0.067	0.02548	B	.;.	.;.	-0.315846	0.02550	0.307	0.22275419563544599	0.00888	0.14836	0.18610	N	AEFDBI	0.191038	0.31825	N	-1.47198114430266	0.02050	0.0901026	-1.51161872813398	0.02254	0.1034005	0.593698443047895	0.21668	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.4	-5.98	0.02034	-0.270000	0.08614	0.563000	0.19530	-0.065000	0.16512	0.000000	0.06391	0.003000	0.18671	0.033000	0.13494	0.2122:0.5141:0.1569:0.1168	4.042	0.09239	901	0.24189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022155	0.045455	0.036685	0.011696	0.000000	0.025862	0.012195	0.007576	0.05263	5722.83	35	chr3	165188532	.	A	T	5722.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=1098;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.72;SOR=0.75	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	17	0	2	0
chr3	165829781	165829781	C	A	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon2:c.G1253T:p.G418V	Apnea, postanesthetic (3)	2	1495	24	1	0	26	0.00862069	.	.	YES	28258	Deficiency_of_butyrylcholinesterase|BCHE,_fluoride_2|BCHE-related_disorder	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:C3889588|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.101294479083	0.0036	0.00199681	0.0030	0.0005	0.0020	0	0.0017	0.0047	0.0033	0.0007	0.0031371	485	154602	rs28933390	0.0041	0.0041	0.0042	0.0040	0.0076	0.0040	0.0040	0.0058	0.0052	0.0004	0.0025	0.0024	5.039e-05	0.0019	0.0076	0.0049	0.0036	0.0007	0.0031	0.0031	0.0030	0.0032	0.0053	0.0029	0.0028	0.0048	0.0046	0.0010	0.0011	0.0029	0.0014	0	0.0013	0.0034	0.0053	0.0047	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.088	0.25022	B	0.072	0.28043	B	0.000219	0.47681	D	0.219988	0.998433	0.81001	A	0.235	0.09667	N	-0.14	0.65006	T	-1.96	0.45404	N	0.266	0.30118	-0.8784	0.49888	T	0.088	0.34133	T	9	0.01191321	0.00258	T	0.101294	0.77410	D	0.077	0.22490	.	.	0.846113530671	0.84463	0.6543701978509309	0.65373	0.0319269504354	0.03313	0.399992108345	0.25067	T	0.524091	0.83410	D	-0.396417	0.02444	T	-0.340836	0.40250	T	0.0518772446842959	0.05825	T	0.787021	0.42574	T	0.76492524	0.81744	0.535401	0.73153	0.76492524	0.81746	0.535401	0.73154	-6.421	0.49673	T	0.09405499381777237	0.06253	0.185	0.40048	B	.	.	1.933699	0.24560	16.44	0.93028901734608516	0.22629	0.66422	0.33073	D	AEFBI	0.552100	0.56390	D	-0.610209302217186	0.18637	0.9691694	-0.471836815746863	0.22934	1.248124	9.16409283121542E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.46	3.1	0.34780	1.394000	0.34118	5.125000	0.47615	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.1527:0.0:0.8473	8.943	0.34900	910	0.22284	Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.008152	0.020468	0.000000	0.008621	0.006098	0.003788	0.02632	1617.33	34	chr3	165829781	.	C	A	1617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.036;DP=771;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.452;SOR=0.86	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	18	0	1	0
chr3	167576127	167576127	G	T	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001366158:exon5:c.C277A:p.H93N,WDR49:NM_001348951:exon8:c.C1300A:p.H434N,WDR49:NM_001348952:exon8:c.C1300A:p.H434N,WDR49:NM_001366157:exon8:c.C1300A:p.H434N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00829868597983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.319	0.28958	T	0.004	0.29046	B	0.002	0.24256	B	0.103037	0.19766	N	0.547220	0.999907	0.19694	N	1.85	0.49092	L	1.76	0.26445	T	-2.57	0.55501	D	0.329	0.42931	-1.0314	0.20002	T	0.082	0.32353	T	10	0.18877351	0.34447	T	0.008299	0.21979	T	0.059	0.16972	0.465	0.53566	0.357929162469	0.35400	0.08260015198264475	0.08195	0.0315044383723	0.03265	0.608449459076	0.54097	T	0.005078	0.04516	T	-0.248986	0.14223	T	-0.595427	0.13198	T	0.205467686057091	0.20714	T	0.70043	0.31009	T	0.11414362	0.26949	0.0968497	0.23028	0.11414362	0.26949	0.0968497	0.23027	-6.15	0.47517	T	.	.	0.110	0.28976	B	.;.;.;.	.;.;.;.	2.530666	0.32720	19.13	0.82414214579683198	0.14179	0.88359	0.48251	D	AEFI	0.433741	0.49508	N	-0.0803626733758603	0.38255	2.237694	0.0115703199668488	0.40250	2.399218	0.0269578884704994	0.13744	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.76	3.98	0.45383	3.694000	0.54474	4.591000	0.43958	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.229:0.0:0.771:0.0	9.008	0.35286	829	0.39537	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	161.33	33	chr3	167576127	.	G	T	161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=707;ExcessHet=0;FS=34.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=0.186;SOR=5.433	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr3	167621509	167621509	A	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.T741G:p.D247E,WDR49:NM_001348952:exon4:c.T741G:p.D247E,WDR49:NM_001366157:exon4:c.T741G:p.D247E	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	.	0.000599042	0.0050	0.0052	0	0	0.0192	0.0069	0.0153	0.0008	0.0014812	229	154602	rs199768118	0.0074	0.0070	0.0074	0.0073	0.0082	0.0072	0.0072	0.0081	0.0080	0.0009	0.0017	0.0019	8.405e-05	0.0221	0.0012	0.0082	0.0059	0.0010	0.0062	0.0062	0.0059	0.0065	0.0091	0.0059	0.0057	0.0085	0.0083	0.0015	0.0055	0.0010	0.0026	0	0.0210	0.0034	0.0091	0.0010	0.0006	0.093	0.31532	T	0.036	0.52060	D	0.999	0.77913	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	1.53	0.30401	T	-1.66	0.46503	N	0.387	0.42834	-0.9810	0.34771	T	0.089	0.34353	T	8	0.008512706	0.00193	T	.	.	.	0.193	0.47281	0.622	0.75690	0.152612264143	0.14878	.	.	.	.	.	.	.	.	.	.	-0.457512	0.01019	T	-0.419573	0.31125	T	0.0388814978897951	0.03489	T	0.477752	0.14466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.52671	B	.;.;.;.	.;.;.;.	2.552193	0.33039	19.22	0.98786345254888808	0.46222	0.85376	0.44503	D	AEFI	0.304131	0.41192	N	0.0974093780209554	0.46340	2.876	0.0712987830678102	0.43112	2.619833	1.95318645543187E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	1.61	0.22752	1.420000	0.34411	2.594000	0.33484	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7765:0.0:0.2235:0.0	9.159	0.36171	842	0.36989	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	34	chr3	167621509	.	A	C	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=693;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.019;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	18	0	1	0
chr3	167621517	167621517	G	T	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.C733A:p.P245T,WDR49:NM_001348952:exon4:c.C733A:p.P245T,WDR49:NM_001366157:exon4:c.C733A:p.P245T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00790111578278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.20002	T	0.042	0.50226	D	0.802	0.45105	P	0.272	0.39956	B	.	.	.	.	1	0.81001	D	.	.	.	1.87	0.24085	T	-2.78	0.71397	D	0.445	0.48319	-1.1133	0.02801	T	0.047	0.20156	T	8	0.5021648	0.61611	D	0.007901	0.20955	T	0.163	0.42028	0.737	0.86978	0.154104182512	0.14974	.	.	.	.	.	.	.	.	.	.	-0.141858	0.29595	T	-0.441545	0.28636	T	0.688551485538483	0.40181	D	0.727127	0.36078	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.39012	B	.;.;.;.	.;.;.;.	3.037682	0.40717	21.2	0.99523887181343496	0.69407	0.92497	0.55850	D	AEFI	0.472806	0.51776	N	0.0259993990291191	0.43040	2.604807	0.107110514496044	0.44911	2.763825	0.00743831054080605	0.11465	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.54	0.55220	3.657000	0.54214	2.946000	0.35689	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0784:0.0:0.9216:0.0	13.247	0.59458	842	0.36989	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1981.33	34	chr3	167621517	.	G	T	1981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.042;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-1.014;SOR=0.715	GT:AD:DP:GQ:PL	0/1:45,75:120:99:1995,0,976	18	0	1	0
chr3	167627286	167627286	G	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C172G:p.Q58E,WDR49:NM_001348952:exon3:c.C172G:p.Q58E,WDR49:NM_001366157:exon3:c.C172G:p.Q58E	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.0135783	0.0012	0.0159	0	0	0	0	0	0.025	0.0009508	147	154602	rs77319753	0.0014	0.0014	0.0014	0.0015	0.0269	0.0014	0.0014	0.0252	0.0245	0.0269	0.0032	0	7.53e-05	9.303e-05	0.0090	0.0004	0.0041	0.0141	0.0085	0.0085	0.0084	0.0085	0.0262	0.0081	0.0079	0.0250	0.0244	0.0262	0.0022	0.0037	0	0.0012	0	0.0068	0.0008	0.0071	0.0127	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	1.01	0.41058	T	0.51	0.02898	N	0.048	0.01999	-1.0941	0.04884	T	0.016	0.06425	T	8	0.0038439333	0.00073	T	.	.	.	0.125	0.34456	.	.	0.144782658237	0.14088	.	.	.	.	.	.	.	.	.	.	-0.674961	0.00051	T	-0.723387	0.04633	T	0.00859171539074002	0.00105	T	0.174383	0.01678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.00142	B	.;.	.;.	1.165256	0.15545	11.93	0.79373966206559421	0.12713	0.01533	0.05044	N	AEFI	0.056392	0.10421	N	-0.676723383152416	0.16687	0.8523274	-0.584740273411319	0.19891	1.069224	0.0113295462184001	0.12167	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	3.438000	0.52634	3.927000	0.40510	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	0.0:0.8562:0.1438:0.0	14.996	0.71087	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	804.33	33	chr3	167627286	.	G	C	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=707;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.604;SOR=0.377	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	18	0	1	0
chr3	167790410	167790410	G	A	exonic	SERPINI1	.	nonsynonymous SNV	SERPINI1:NM_001122752:exon3:c.G289A:p.V97I,SERPINI1:NM_005025:exon3:c.G289A:p.V97I	Encephalopathy, familial, with neuroserpin inclusion bodies, Autosomal dominant	3	1479	38	2	0	42	0.014	.	.	.	293333	SERPINI1-related_disorder|Familial_encephalopathy_with_neuroserpin_inclusion_bodies|not_provided	.|MONDO:MONDO:0011412,MedGen:C1858680,OMIM:604218,Orphanet:85110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0328983958797	0.0045	0.00219649	0.0047	0.0004	0.0028	0	0.0009	0.0060	0.0088	0.0070	0.0046571	720	154602	rs61750375	0.0052	0.0052	0.0050	0.0054	0.0113	0.0051	0.0051	0.0091	0.0083	0.0009	0.0035	0.0067	2.521e-05	0.0010	0.0113	0.0054	0.0060	0.0082	0.0036	0.0036	0.0039	0.0033	0.0060	0.0033	0.0032	0.0051	0.0050	0.0007	0.0044	0.0037	0.0075	0	0.0008	0.0102	0.0056	0.0047	0.0060	1.0	0.00964	T	1.0	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	0.072584	0.21399	N	0.510004	0.997854	0.22475	N	-0.96	0.01244	N	-1.76	0.83578	D	0.72	0.02442	N	0.118	0.10769	-0.8820	0.49601	T	0.118	0.41538	T	10	0.003496945	0.00062	T	0.032898	0.54598	D	0.128	0.35103	.	.	0.349806870941	0.34587	0.12769553884308935	0.12695	0.0739654645064	0.08289	0.265640407801	0.05581	T	0.066618	0.41999	T	-0.418963	0.01736	T	-0.370023	0.36887	T	0.000506542078013656	0.00004	T	0.513049	0.16451	T	0.0813746	0.18693	0.034470256	0.02519	0.099284485	0.23429	0.027892668	0.00977	-3.401	0.15070	T	0.07746155032237506	0.03632	0.101	0.17700	B	.;.;.;.	.;.;.;.	0.245951	0.06257	2.711	0.1125454455996657	0.00164	0.58987	0.30791	D	AEFDHCI	0.196709	0.32367	N	-0.97674131696484	0.09102	0.4294178	-0.769956646674864	0.15233	0.8001048	0.00303427363349803	0.09882	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.45	3.38	0.37806	1.259000	0.32559	1.149000	0.24466	-0.154000	0.11915	0.801000	0.29734	0.536000	0.25389	0.361000	0.25909	0.0975:0.1414:0.4717:0.2893	3.431	0.07000	805	0.43675	Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.002924	0.000000	0.025862	0.012195	0.015152	0.02632	1642.33	33	chr3	167790410	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=760;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-2.087;SOR=0.945	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,113,1298	18	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S,MECOM:NM_001366466:exon3:c.G460T:p.A154S,MECOM:NM_001366473:exon3:c.G460T:p.A154S,MECOM:NM_004991:exon3:c.G460T:p.A154S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	436	1039	45	2	0	49	0.0230371	.	.	.	3221779	MECOM-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.023098	0.014620	0.000000	0.008621	0.018293	0.018939	0.05263	1919.83	33	chr3	169143748	.	C	A	1919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.11;DP=804;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.839;SOR=0.815	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1330	17	0	2	0
chr3	170303089	170303089	A	G	exonic	PRKCI	.	nonsynonymous SNV	PRKCI:NM_002740:exon18:c.A1753G:p.I585V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0221346840599	7.7e-05	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs374370739	2.752e-06	3.42e-06	2.739e-06	2.765e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.803e-06	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.011	0.15521	B	0.000000	0.84330	D	0.047350	1	0.81001	D	0.535	0.13693	N	0.75	0.50192	T	0.07	0.06138	N	0.521	0.55106	-1.0548	0.13093	T	0.069	0.28213	T	9	0.27619874	0.45181	T	0.022135	0.44997	T	0.159	0.41286	.	.	0.802968466151	0.80112	0.3676458992214215	0.36678	1.54489099394	0.87806	0.766446590424	0.76892	T	0.103207	0.41165	T	-0.042338	0.45600	T	-0.298592	0.44874	T	0.613938808441162	0.36959	D	0.935306	0.75759	D	0.24757332	0.47736	0.26509687	0.52337	0.24757332	0.47736	0.26509687	0.52336	-4.332	0.28623	T	.	.	0.169	0.37235	B	.	.	3.633871	0.51490	23.1	0.98667470359547227	0.44428	0.98927	0.88737	D	AEFGBI	0.903335	0.85229	D	-0.0441033833731986	0.39868	2.358034	0.208683036791838	0.50330	3.226066	0.999999811875311	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	8.765000	0.91371	11.160000	0.87621	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.077	0.80784	803	0.44167	AGC-kinase, C-terminal|AGC-kinase, C-terminal|Atypical protein kinase C iota type, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1084.33	36	chr3	170303089	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=678;ExcessHet=0;FS=5.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-1.112;SOR=1.365	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I,SKIL:NM_001248008:exon4:c.G1525A:p.V509I,SKIL:NM_005414:exon5:c.G1525A:p.V509I,SKIL:NM_001145098:exon6:c.G1465A:p.V489I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	1298.33	34	chr3	170390318	.	G	A	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=731;ExcessHet=0;FS=2.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.46;SOR=0.992	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1362	18	0	1	0
chr3	170998046	170998046	G	C	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_001278658:exon10:c.C1075G:p.L359V,SLC2A2:NM_001278659:exon10:c.C913G:p.L305V,SLC2A2:NM_000340:exon11:c.C1432G:p.L478V	Fanconi-Bickel syndrome, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	293779	SLC2A2-related_disorder|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	.|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.00890319125531	0.0011	0.000399361	0.0010	0.0002	0	0	0.0018	0.0011	0.0011	0.0023	0.0009508	147	154602	rs5397	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0002	0.0001	0	0	0.0011	0.0005	0.0014	0.0013	0.0022	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0013	0	0.0014	0.0005	0.0025	0.357	0.12032	T	0.737	0.05036	T	0.043	0.21573	B	0.04	0.23831	B	0.009530	0.30318	N	0.345965	0.928115	0.36885	D	0.49	0.13296	N	-0.96	0.75553	T	-0.28	0.11547	N	0.075	0.04913	-1.0613	0.11434	T	0.132	0.44425	T	10	0.010517448	0.00234	T	0.008903	0.23463	T	0.090	0.26093	.	.	0.516162830352	0.51260	0.4817847910657274	0.48098	0.166197381552	0.18754	0.449450194836	0.31869	T	0.238634	0.60658	T	-0.486422	0.00680	T	-0.477655	0.24696	T	0.00428323383558468	0.00046	T	0.813419	0.46649	T	0.0684418	0.14910	0.040046085	0.04240	0.05942514	0.12074	0.051368464	0.08253	-3.233	0.12888	T	0.10844219643555432	0.08941	0.066	0.02173	B	.	.	0.835277	0.12070	8.622	0.95680526812552436	0.27539	0.43429	0.27096	N	ALL	0.734619	0.68069	D	-0.912838903687013	0.10541	0.5041921	-0.809780062119685	0.14259	0.7441296	0.999999981263485	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	6.17	1.36	0.21139	0.127000	0.15617	0.142000	0.15184	0.676000	0.76740	0.029000	0.20367	0.001000	0.17328	0.992000	0.67800	0.2423:0.2193:0.5384:0.0	6.334	0.20493	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1542.33	40	chr3	170998046	.	G	C	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.256;DP=797;ExcessHet=0;FS=5.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.072;SOR=0.36	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr3	171686718	171686718	C	T	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_002662:exon16:c.G1834A:p.E612K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00693887146917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.625	0.07316	T	0.0	0.02946	B	0.001	0.04355	B	0.543495	0.11511	N	0.775970	1	0.81001	D	-0.22	0.03977	N	3.41	0.05574	T	-0.87	0.23590	N	0.146	0.14763	-1.0333	0.19395	T	0.015	0.06090	T	10	0.095954	0.17176	T	0.006939	0.18374	T	0.044	0.11924	0.334	0.32167	0.403040389579	0.39917	0.5396088827909524	0.53885	0.117647876754	0.13252	0.333504378796	0.15463	T	0.039266	0.25130	T	-0.290036	0.09632	T	-0.654393	0.08650	T	0.0940194583217049	0.11686	T	0.791221	0.43226	T	0.07491365	0.16844	0.10236754	0.24533	0.07491365	0.16844	0.10236754	0.24533	-4.851	0.35179	T	0.16482640879820573	0.20393	0.064	0.01577	B	.	.	2.146653	0.27338	17.43	0.98067057984176853	0.37999	0.84121	0.43205	D	AEFBI	0.213815	0.33935	N	-0.559596874877708	0.20183	1.062153	-0.409163802641396	0.24728	1.35577	0.861838431089623	0.25241	0.562547	0.31514	0	0.588066	0.40923	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.68	3.89	0.44098	2.261000	0.42932	4.017000	0.41215	0.599000	0.40250	0.871000	0.30813	0.914000	0.28189	0.867000	0.41218	0.0:0.8406:0.0:0.1594	9.655	0.39083	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	540.33	27	chr3	171686718	.	C	T	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.816;DP=563;ExcessHet=0;FS=9.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.962;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,934	18	0	1	0
chr3	171688875	171688875	A	C	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon14:c.T1340G:p.V447G,PLD1:NM_002662:exon14:c.T1340G:p.V447G	.	.	.	.	.	.	.	.	0.7886	0.434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.0790179036906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.364e-06	1.378e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.73	0.94857	H	1.91	0.23283	T	-6.47	0.91479	D	0.773	0.78356	-0.3950	0.72184	T	0.238	0.60511	T	10	0.8661579	0.85861	D	0.079018	0.73138	D	0.779	0.92623	0.621	0.75576	0.772778510145	0.77069	0.9420857630831782	0.94189	0.598596633043	0.55023	0.648828148842	0.59819	T	0.654551	0.89558	D	0.30126	0.83070	D	0.194963	0.82851	D	0.996987760066986	0.90511	D	0.961804	0.85620	D	0.96209884	0.97490	0.8412763	0.90922	0.96209884	0.97491	0.8412763	0.90923	-16.825	0.98779	D	0.8342700792830291	0.90436	0.941	0.86333	P	.;.	.;.	6.230435	0.94839	34	0.99657499661393489	0.77694	0.97381	0.74389	D	AEFDBHCI	0.949159	0.96151	D	0.899346975589142	0.91727	11.03265	0.805928425759139	0.90203	10.30137	0.999999998604055	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	9.287000	0.95066	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	15.540	0.75769	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1571.33	35	chr3	171688875	.	A	C	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.569;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr3	171713936	171713936	C	G	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_001130081:exon9:c.G868C:p.E290Q,PLD1:NM_002662:exon9:c.G868C:p.E290Q	.	433	1080	8	1	0	10	0.00460829	.	.	.	697928	PLD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0356924497802	0.0017	0.000798722	0.0017	0.0002	0.0015	0	0.0002	0.0025	0.0033	0.0008	0.0013066	202	154602	rs142070781	0.0018	0.0018	0.0018	0.0017	0.0031	0.0017	0.0017	0.0020	0.0018	0.0005	0.0017	0.0058	0	7.489e-05	0.0031	0.0019	0.0025	0.0006	0.0013	0.0013	0.0015	0.0012	0.0028	0.0012	0.0011	0.0021	0.0019	0.0004	0.0011	0.0028	0.0049	0	0	0.0034	0.0018	0.0019	0	0.381	0.20154	T	0.495	0.12740	T	0.006	0.13644	B	0.016	0.17743	B	0.000033	0.55875	D	0.157817	0.997629	0.52935	D	1.01	0.25309	L	-0.77	0.73523	T	-0.96	0.25551	N	0.27	0.30574	-0.7288	0.59024	T	0.285	0.65734	T	10	0.009873867	0.00221	T	0.035692	0.56514	D	0.088	0.25558	.	.	0.835297739687	0.83372	0.5479126788619827	0.54717	0.453324414724	0.45024	0.471404582262	0.34874	T	0.136345	0.46866	T	-0.393133	0.02567	T	-0.343343	0.39966	T	0.0173284270596964	0.00473	T	0.854615	0.54143	D	0.15598544	0.35226	0.09822955	0.23411	0.1869148	0.40121	0.10320213	0.24754	-8.698	0.65733	D	0.2395052756741605	0.32440	0.233	0.46562	B	.;.	.;.	4.049233	0.60011	24.2	0.99432230009719491	0.64325	0.96400	0.68952	D	AEFBI	0.914466	0.87786	D	0.0521306820468999	0.44241	2.701725	0.256149342682307	0.52999	3.471247	0.999961239578934	0.48965	0.643511	0.44296	0	0.588066	0.40923	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	5.36	5.36	0.76624	5.853000	0.69232	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.221	0.89836	963	0.08280	.;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1261.33	35	chr3	171713936	.	C	G	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=741;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.281;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	18	0	1	0
chr3	172344199	172344199	G	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon19:c.G2191A:p.G731S,FNDC3B:NM_022763:exon19:c.G2191A:p.G731S	.	.	.	.	.	.	.	.	.	.	.	3973581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0045817322432	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780973777	4.789e-06	4.788e-06	5.445e-06	4.125e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.03085	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.000003	0.62929	D	0.142094	0.999873	0.50225	D	-0.29	0.03673	N	0.57	0.54347	T	-0.88	0.23808	N	0.235	0.27554	-0.9951	0.31272	T	0.053	0.22655	T	10	0.104201496	0.19198	T	0.004582	0.11315	T	0.092	0.26621	0.313	0.28774	0.193917141947	0.19028	0.30400730492785727	0.30313	0.275911508279	0.30067	0.419240087271	0.27732	T	0.039376	0.25168	T	-0.202084	0.20505	T	-0.528056	0.19480	T	0.206782404183951	0.20784	T	0.813219	0.46599	T	0.059491877	0.12097	0.072385736	0.15610	0.059491877	0.12097	0.072385736	0.15610	-3.843	0.21448	T	.	.	0.113	0.24700	B	.;.;.	.;.;.	3.061747	0.41119	21.3	0.53494747732594505	0.04951	0.94358	0.60911	D	AEFBI	0.384034	0.46531	N	-0.461428158800756	0.23354	1.253549	-0.231712633083585	0.30408	1.711766	0.999993379506561	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.91	5.03	0.67015	3.275000	0.51342	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.2549:0.0:0.7451:0.0	5.662	0.16951	845	0.36510	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1571.33	35	chr3	172344199	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.38;SOR=0.696	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1585,0,1719	18	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.02632	2198.33	158	chr3	175097119	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1739;ExcessHet=0;FS=6.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.416;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	1	0
chr3	178842768	178842768	G	A	exonic	KCNMB2	.	nonsynonymous SNV	KCNMB2:NM_001278911:exon5:c.G539A:p.G180E,KCNMB2:NM_181361:exon5:c.G539A:p.G180E,KCNMB2:NM_005832:exon6:c.G539A:p.G180E	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0135044039846	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs781033629	8.826e-05	8.824e-05	4.765e-05	0.0001	0.0014	7.556e-05	7.102e-05	0.0012	0.0011	0	0	0	0	0	0	3.598e-06	6.624e-05	0.0014	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.376	0.11334	T	1.0	0.01155	T	0.017	0.17573	B	0.027	0.21085	B	0.000011	0.62929	D	0.154746	0.999832	0.49637	D	-0.05	0.04954	N	3.11	0.08194	T	0.09	0.05917	N	0.142	0.23884	-0.8943	0.48549	T	0.011	0.04321	T	10	0.0176996	0.00379	T	0.013504	0.32951	T	0.156	0.40720	0.463	0.53242	0.043077524339	0.03247	0.6878217481705801	0.68722	1.03228781939	0.75458	0.641217827797	0.58737	T	0.031822	0.22214	T	-0.488675	0.00661	T	-0.504804	0.21850	T	0.0582015658936055	0.06883	T	0.864914	0.56300	D	0.1584665	0.35649	0.2963199	0.55664	0.1584665	0.35649	0.2963199	0.55663	-1.632	0.02058	T	.	.	0.160	0.38693	B	.;.;.;.;.;.	.;.;.;.;.;.	2.719362	0.35566	19.93	0.92681095845324502	0.22167	0.96382	0.68865	D	AEFBI	0.572029	0.57577	D	-0.278118862439741	0.29995	1.668428	0.0254582013448706	0.40901	2.448394	0.991004451670188	0.32341	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	3.364000	0.52052	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.422	0.99051	527	0.73864	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1827.33	138	chr3	178842768	.	G	A	1827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=769;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.14;SOR=0.58	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	18	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.07895	2834.79	30	chr3	179240022	.	T	C	2834.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.57;DP=764;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.84;MQRankSum=-0.958;QD=15.24;ReadPosRankSum=0.125;SOR=0.676	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1355	16	0	3	0
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V,KCNMB3:NM_001163677:exon2:c.T217G:p.L73V,KCNMB3:NM_014407:exon2:c.T223G:p.L75V,KCNMB3:NM_171828:exon2:c.T217G:p.L73V,KCNMB3:NM_171829:exon2:c.T157G:p.L53V	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	808	0.43318	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.020202	0.014946	0.011696	0.000000	0.008621	0.018293	0.037879	0.05263	4400.83	37	chr3	179250780	.	A	C	4400.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.125;DP=970;ExcessHet=0.119;FS=1.799;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.246;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	17	0	2	0
chr3	179623963	179623963	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G337C:p.D113H,NDUFB5:NM_001199958:exon5:c.G386C:p.R129T,NDUFB5:NM_002492:exon6:c.G493C:p.D165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0806083610803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.04	0.63240	T	-5.48	0.88224	D	0.931	0.93605	-0.1401	0.79162	T	0.410	0.75852	T	9	0.9509015	0.94426	D	0.080608	0.73498	D	0.681	0.88300	0.804	0.92230	0.716271271468	0.71378	0.9058208730488819	0.90555	0.781304724026	0.65305	0.509268164635	0.40119	T	0.456411	0.79518	T	0.20708	0.74555	D	0.0596797	0.74223	D	0.998048782348633	0.93084	D	0.907609	0.67324	D	0.88413477	0.90010	0.7096465	0.82875	0.88413477	0.90011	0.7096465	0.82875	-2.739	0.20238	T	.	.	0.935	0.85485	P	.;.;.	.;.;.	3.938161	0.57613	23.9	0.99620339343689335	0.75353	0.97698	0.76492	D	AEFBI	0.905132	0.85626	D	0.457902356998463	0.64654	4.724727	0.520580993976032	0.69377	5.351571	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	244.85	35	chr3	179623963	.	G	C	244.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=985;ExcessHet=0;FS=89.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=3.07;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1147:.	18	0	1	0
chr3	179623965	179623965	T	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199958:exon5:c.T388C:p.W130R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.911e-06	7.209e-05	5.595e-06	4.223e-06	4.609e-06	2.04e-06	1.31e-06	1.35e-06	9.8e-07	0	0	0	0	3.954e-05	0	4.609e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.63	0.18459	N	0.216	0.24135	-0.6731	0.61688	T	0.257	0.62744	T	5	0.18694821	0.34183	T	.	.	.	0.026	0.05648	0.427	0.47350	0.642851068427	0.63989	.	.	.	.	.	.	.	0.020626	0.16209	T	-0.187287	0.22658	T	-0.506801	0.21643	T	0.103307284206534	0.12717	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38569	B	.;.	.;.	-0.256571	0.02815	0.388	0.96799615222830182	0.31146	0.24487	0.22409	N	AEFBI	0.119912	0.23382	N	-0.120171839563191	0.36516	2.111697	-0.134043431856465	0.34028	1.952845	0.00856043913646686	0.11698	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	2.76	0.31527	-0.517000	0.06360	-3.582000	0.02679	-0.711000	0.03940	0.658000	0.28243	0.000000	0.08366	0.137000	0.19835	0.0:0.1615:0.0:0.8385	8.627	0.33056	696	0.58299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	250.83	35	chr3	179623965	.	T	C	250.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.405;DP=974;ExcessHet=0.119;FS=89.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:25:.:.:0,25,1499:.	17	0	2	0
chr3	179623966	179623966	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G340C:p.G114R,NDUFB5:NM_001199958:exon5:c.G389C:p.W130S,NDUFB5:NM_002492:exon6:c.G496C:p.G166R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0882672381383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	6.021e-05	2.739e-06	1.383e-06	1.807e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.879e-05	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.32141	T	0.165	0.45961	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.75	0.50192	T	-4.46	0.78388	D	0.888	0.88687	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8808993	0.87400	D	0.088267	0.75100	D	0.456	0.75483	0.739	0.87147	0.566919426312	0.56356	0.7376073152616416	0.73705	0.783907768696	0.65412	0.677991628647	0.63980	T	0.153633	0.49457	T	0.27209	0.80629	D	0.153062	0.80378	D	0.99599552154541	0.88464	D	0.823718	0.48487	T	0.61235124	0.73354	0.39464846	0.64153	0.61235124	0.73355	0.39464846	0.64153	-1.995	0.08463	T	.	.	0.903	0.82925	P	.;.;.	.;.;.	4.282394	0.65240	24.8	0.99925815286718667	0.99042	0.97711	0.76584	D	AEFBI	0.923417	0.89987	D	0.466383344546995	0.65140	4.784983	0.531954369807172	0.70153	5.463319	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	254.13	35	chr3	179623966	.	G	C	254.13	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=992;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.064;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:73:.:.:0,73,1343:.	17	0	2	0
chr3	179623967	179623967	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G341C:p.G114A,NDUFB5:NM_001199958:exon5:c.G390C:p.W130C,NDUFB5:NM_002492:exon6:c.G497C:p.G166A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.12197857641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	3.148e-05	0	1.378e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.22400	T	0.356	0.20293	T	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-3.38	0.67359	D	0.654	0.70702	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8367439	0.82829	D	0.121979	0.80285	D	0.312	0.63375	0.735	0.86806	0.6236463853	0.62058	0.6873497321933157	0.68674	0.733095003342	0.62821	0.602588236332	0.53270	T	0.262495	0.63407	T	0.126212	0.66989	D	-0.0564815	0.66576	D	0.994511246681213	0.85849	D	0.922708	0.71908	D	0.6165376	0.73578	0.3834939	0.63311	0.6165376	0.73579	0.3834939	0.63311	-3.903	0.22348	T	.	.	0.686	0.72384	P	.;.;.	.;.;.	4.102283	0.61177	24.3	0.99815934126713535	0.89973	0.97711	0.76584	D	AEFBI	0.917384	0.88491	D	0.466819051696706	0.65162	4.788135	0.532535031141129	0.70190	5.469161	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	35	chr3	179623967	.	G	C	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.949;DP=890;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	17	0	2	0
chr3	179745208	179745208	C	T	exonic	USP13	.	nonsynonymous SNV	USP13:NM_003940:exon13:c.C1700T:p.A567V	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.018163752203	.	0.00139776	0.0007	0	8.642e-05	0	0	0	0	0.0050	0.0005886	91	154602	rs554239812	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0041	0.0001	0	0	0	0	0.0002	4.033e-06	0.0001	0.0047	0.0002	0.0002	0.0001	0.0002	0.0062	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0062	0.427	0.13610	T	0.379	0.16668	T	0.206	0.29860	B	0.09	0.29851	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.33	0.10399	N	-0.77	0.73523	T	0.03	0.08971	N	0.23	0.30233	-0.8115	0.54460	T	0.210	0.56987	T	10	0.010353208	0.00231	T	0.018164	0.40130	T	0.204	0.49076	0.379	0.39482	0.76226186153	0.76009	0.5042067756078514	0.50342	0.307753395875	0.33067	0.865832209587	0.91966	D	0.026181	0.19430	T	-0.30699	0.08016	T	-0.213068	0.53402	T	0.108240590602843	0.13240	T	0.792821	0.44420	T	0.1585431	0.35663	0.13017787	0.31286	0.1585431	0.35662	0.13017787	0.31285	-7.344	0.62532	T	.	.	0.376	0.58185	A	.;.;.	.;.;.	4.808499	0.78206	26.9	0.94813394510028126	0.25576	0.94230	0.60510	D	AEFBIJ	0.413439	0.48311	N	-0.100722153289776	0.37361	2.172543	0.0867337742179027	0.43879	2.680682	0.999998852049275	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	4.5	0.54382	3.219000	0.50901	7.551000	0.60274	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.842000	0.39752	0.1385:0.8615:0.0:0.0	15.535	0.75733	808	0.43318	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	629.33	35	chr3	179745208	.	C	T	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=692;ExcessHet=0;FS=12.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.48;SOR=0.081	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,33:189:66:.:.:66,0,3379:.	14	0	5	0
chr3	180604253	180604253	C	T	exonic	TTC14	.	nonsynonymous SNV	TTC14:NM_001042601:exon4:c.C515T:p.S172F,TTC14:NM_001288582:exon4:c.C515T:p.S172F,TTC14:NM_133462:exon4:c.C515T:p.S172F	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0442153925657	0.0029	.	0.0022	0.0004	0.0002	0	0.0005	0.0037	0.0011	0.0005	0.0022768	352	154602	rs138114640	0.0036	0.0036	0.0037	0.0034	0.0044	0.0035	0.0034	0.0043	0.0042	0.0006	0.0004	0.0008	0	0.0014	0.0003	0.0044	0.0028	0.0005	0.0017	0.0017	0.0018	0.0015	0.0030	0.0015	0.0014	0.0026	0.0025	0.0007	0	0.0005	0.0006	0	0.0004	0	0.0030	0.0005	0.0006	0.018	0.68238	D	0.004	0.79402	D	0.981	0.73220	D	0.819	0.69102	P	0.000002	0.62929	D	0.106321	0.999995	0.58761	D	2.775	0.80997	M	0.68	0.51952	T	-2.82	0.65858	D	0.499	0.54496	-0.3182	0.74472	T	0.328	0.69589	T	10	0.0110434	0.00243	T	0.044215	0.61378	D	0.197	0.47942	.	.	0.760563670609	0.75838	0.7308864032049274	0.73033	0.485000296084	0.47400	0.543506741524	0.44941	T	0.224785	0.58933	T	-0.241597	0.15144	T	-0.11748	0.62008	T	0.0448740050196648	0.04579	T	0.928707	0.73770	D	0.32165232	0.54779	0.28533942	0.54536	0.32165232	0.54779	0.28533942	0.54535	-9.03	0.71517	D	.	.	0.39	0.59011	A	.;.;.;.;.	.;.;.;.;.	4.351148	0.66834	25.0	0.99815115056758996	0.89885	0.98802	0.87042	D	AEFDBI	0.635701	0.61512	D	0.747593670358807	0.82746	7.839798	0.694712202429908	0.81974	7.654412	0.999999999999992	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	5.489000	0.66595	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.268	0.89996	606	0.67383	S1 domain;.;.;S1 domain;S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	957.33	33	chr3	180604253	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=678;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.604;SOR=0.559	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1301	18	0	1	0
chr3	180619889	180619889	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon15:c.G2080A:p.A694T	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.211736770405	.	.	6.739e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs769886847	1.097e-05	1.163e-05	1.228e-05	9.647e-06	2.996e-05	6.49e-06	5.26e-06	6.53e-06	5.03e-06	2.996e-05	0	0	0	0	0	1.171e-05	3.321e-05	0	6.621e-06	6.576e-06	0	1.357e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.35	0.17478	T	0.995	0.67487	D	0.748	0.55971	P	.	.	.	.	0.999998	0.81001	D	2.955	0.85029	M	-1.11	0.77466	T	-3.57	0.68999	D	0.844	0.83987	0.044	0.83124	D	0.582	0.84951	D	9	0.62912256	0.68414	D	0.211737	0.87320	D	0.463	0.75956	0.138	0.04187	0.875609160862	0.87439	.	.	0.312588091171	0.33560	0.602254092693	0.53222	T	0.037273	0.24416	T	0.125118	0.66882	D	0.0983133	0.76796	D	0.984526872634888	0.75805	D	0.886911	0.61435	D	0.4268691	0.62547	0.42243674	0.66145	0.4268691	0.62547	0.42243674	0.66145	-6.02	0.46447	T	.	.	.	.	.	.	.	4.885100	0.80157	27.3	0.99831629277736733	0.91284	0.94310	0.60759	D	AEFDCIJ	0.716723	0.66847	D	0.708408311882753	0.80185	7.238	0.704977205559537	0.82756	7.846696	0.999999958022554	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.0	0.00009	3	.	.	5.55	5.55	0.83298	7.053000	0.76350	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.502	0.95088	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	33	chr3	180619889	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=795;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=1.74;SOR=0.862	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr3	180679313	180679313	T	G	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon1:c.A68C:p.E23A	Ciliary dyskinesia, primary, 14	0	1520	2	0	0	2	0.000657462	.	.	.	293446	not_provided|Primary_ciliary_dyskinesia_14|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00932865766129	8.1e-05	.	0.0003	0.0001	8.639e-05	0	0.0002	0.0004	0.0011	0.0005	0.0002717	42	154602	rs200225521	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0.0002	0.0001	0.0012	0	3.745e-05	0.0019	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	9.626e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0	0.0002	0.088	0.32296	T	0.016	0.60972	D	0.482	0.36779	P	0.161	0.34794	B	0.000041	0.55875	D	0.159069	0.996073	0.43003	D	2.25	0.63811	M	.	.	.	-4.09	0.74821	D	0.49	0.52386	-0.5896	0.65237	T	0.236	0.60282	T	9	0.08464903	0.14208	T	0.009329	0.24483	T	0.143	0.38195	.	.	0.488897681448	0.48522	.	.	0.167866755791	0.18923	0.483332842588	0.36515	T	0.025224	0.18905	T	-0.257037	0.13249	T	-0.242829	0.50521	T	0.0664061926778105	0.08137	T	0.782222	0.41780	T	0.29219335	0.52196	0.21992828	0.46749	0.30438828	0.53296	0.22557949	0.47506	-11.088	0.80138	D	.	.	.	.	.	.	.	3.078024	0.41394	21.3	0.98696340343103184	0.44838	0.19099	0.20527	N	AEFDGBHCI	0.122891	0.23824	N	0.0064452918882998	0.42149	2.534075	0.0438319436038556	0.41773	2.515	0.999999999974222	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	5.59	5.59	0.84677	0.671000	0.24853	1.860000	0.29316	0.665000	0.62972	0.050000	0.21411	0.986000	0.30841	0.810000	0.38174	0.0:0.0:0.0:1.0	13.137	0.58831	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1825.33	33	chr3	180679313	.	T	G	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.467;DP=802;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.698;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1266	18	0	1	0
chr3	182793775	182793775	C	G	exonic	ATP11B	.	nonsynonymous SNV	ATP11B:NM_014616:exon1:c.C16G:p.R6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.701777313666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.232	0.60337	T	0.0	0.02946	B	0.002	0.06944	B	0.580442	0.11148	U	0.771658	0.623664	0.32728	D	0.205	0.09354	N	-0.04	0.63240	T	-0.28	0.12283	N	0.378	0.41952	-0.8376	0.52806	T	0.149	0.47610	T	10	0.31171894	0.48639	T	0.701777	0.97561	D	0.142	0.37995	0.489	0.57415	0.549535270781	0.54609	0.7679376743912163	0.76742	0.912256096767	0.71105	0.813529729843	0.84035	D	0.012888	0.11245	T	-0.0450043	0.45204	T	-0.302422	0.44468	T	0.341795367868593	0.26695	T	0.90351	0.66162	D	0.18420434	0.39724	0.24950436	0.50523	0.18420434	0.39724	0.24950436	0.50522	-6.541	0.50602	T	.	.	0.234	0.53868	B	.;.	.;.	3.374025	0.46641	22.3	0.95526334881634956	0.27153	0.28189	0.23485	N	ALL	0.168123	0.29485	N	-0.411459068503681	0.25066	1.358016	-0.297917934160479	0.28167	1.568346	0.99999999996481	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.08	3.08	0.34576	1.757000	0.38029	4.154000	0.42167	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	11.474	0.49531	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	479.33	36	chr3	182793775	.	C	G	479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.909;DP=669;ExcessHet=0;FS=4.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.787;SOR=1.043	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr3	183270411	183270411	G	A	exonic	B3GNT5	.	nonsynonymous SNV	B3GNT5:NM_032047:exon2:c.G613A:p.E205K	.	435	1081	4	2	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00642235049605	7.7e-05	0.000199681	0.0007	0	0	0	0	4.498e-05	0	0.0052	0.0005821	90	154602	rs369390470	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	0	0	0.0012	6.295e-06	0.0002	0.0062	0.0002	0.0002	0.0001	0.0002	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0044	0.398	0.10553	T	0.465	0.12421	T	0.014	0.16867	B	0.008	0.13708	B	0.088994	0.20451	N	0.513582	1	0.81001	D	0.31	0.10265	N	1.01	0.41058	T	-0.82	0.22508	N	0.075	0.05414	-1.0544	0.13198	T	0.092	0.35174	T	10	0.0064162016	0.00145	T	0.006422	0.16899	T	0.057	0.16321	.	.	0.334371577756	0.33041	0.36830186867704673	0.36744	0.320336579067	0.34239	0.379410505295	0.22174	T	0.092074	0.38929	T	-0.521638	0.00430	T	-0.520016	0.20293	T	0.0368775715300348	0.03133	T	0.80112	0.44691	T	0.12518145	0.29352	0.11545953	0.27872	0.12518145	0.29352	0.11545953	0.27871	-3.757	0.20164	T	.	.	0.067	0.02670	B	.;.;.	.;.;.	2.029198	0.25788	16.89	0.98838063540084009	0.47068	0.50956	0.28783	D	AEFDGBI	0.247426	0.36800	N	-0.182697512518706	0.33855	1.925535	-0.018502432869171	0.38881	2.297035	0.999999999335376	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	3.071000	0.49740	5.167000	0.47814	0.676000	0.76740	0.181000	0.24076	0.989000	0.31174	0.991000	0.66497	0.0:0.0:0.8581:0.1419	15.066	0.71660	777	0.48198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2260.33	46	chr3	183270411	.	G	A	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=866;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.449;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr3	183758909	183758909	A	G	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon13:c.A1600G:p.T534A,YEATS2:NM_001351370:exon13:c.A1603G:p.T535A,YEATS2:NM_001351371:exon13:c.A1600G:p.T534A,YEATS2:NM_018023:exon13:c.A1600G:p.T534A	.	434	1070	16	2	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00644576973245	0.0005	0.000798722	0.0012	0.0002	0.0003	0.0001	0	0.0010	0.0011	0.0044	0.0011125	172	154602	rs151134207	0.0010	0.0011	0.0009	0.0011	0.0080	0.0010	0.0010	0.0062	0.0055	0.0004	0.0005	0.0118	0	0	0.0080	0.0005	0.0021	0.0049	0.0007	0.0007	0.0007	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	9.619e-05	0	0.0014	0.0063	0.0002	0	0	0.0005	0.0028	0.0046	0.121	0.27783	T	0.193	0.28210	T	0.002	0.09854	B	0.002	0.06944	B	0.050432	0.23072	N	0.426796	0.930975	0.27058	N	0.55	0.14455	N	1.62	0.28189	T	-1.15	0.29525	N	0.101	0.08366	-1.0310	0.20131	T	0.023	0.09741	T	10	0.0034987628	0.00062	T	0.006446	0.16956	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.1511654164816643	0.15038	0.101752101259	0.11512	0.354154497385	0.18531	T	0.021974	0.17024	T	-0.657884	0.00065	T	-0.717652	0.04910	T	0.00480504175451121	0.00052	T	0.568143	0.20156	T	0.027486753	0.01947	0.035520084	0.02821	0.027486753	0.01947	0.035520084	0.02820	-3.292	0.13634	T	.	.	0.075	0.05711	B	.	.	1.408825	0.18239	13.63	0.90428604438978444	0.19688	0.75346	0.36886	D	AEFGBI	0.087966	0.17834	N	-0.554371110846177	0.20347	1.071928	-0.384748616274632	0.25452	1.399723	0.00896655278382044	0.11772	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	1.49	0.21966	1.355000	0.33671	2.664000	0.33900	-0.094000	0.16080	0.996000	0.39380	1.000000	0.68203	0.833000	0.39279	0.6501:0.1322:0.2177:0.0	5.754	0.17430	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.006793	0.011696	0.050000	0.017241	0.015244	0.000000	0.02632	1160.33	37	chr3	183758909	.	A	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=827;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.515;SOR=0.596	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr3	183772434	183772434	G	T	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon16:c.G2077T:p.V693L,YEATS2:NM_001351370:exon16:c.G2080T:p.V694L,YEATS2:NM_001351371:exon16:c.G2077T:p.V693L,YEATS2:NM_018023:exon16:c.G2077T:p.V693L	.	424	1084	13	1	0	15	0.00687128	.	.	.	2825083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00662662918082	0.0065	0.00319489	0.0061	0.0015	0.0022	0.0001	0.0073	0.0080	0.0033	0.0070	0.0061772	955	154602	rs116616592	0.0073	0.0073	0.0073	0.0073	0.0083	0.0072	0.0071	0.0081	0.0081	0.0010	0.0022	0.0048	2.519e-05	0.0079	0.0035	0.0083	0.0050	0.0057	0.0054	0.0054	0.0053	0.0054	0.0085	0.0050	0.0049	0.0079	0.0077	0.0011	0	0.0033	0.0043	0	0.0086	0	0.0085	0.0047	0.0048	0.189	0.21224	T	0.433	0.13595	T	0.003	0.11197	B	0.001	0.04355	B	0.001582	0.38554	N	0.177257	0.991977	0.41522	D	0.805	0.20218	L	1.47	0.31987	T	-1.03	0.27052	N	0.189	0.20660	-1.1090	0.03157	T	0.036	0.15683	T	10	0.005942464	0.00133	T	0.006627	0.17501	T	0.019	0.03383	0.256	0.19689	0.043077524339	0.03247	0.1722589919553197	0.17145	0.101044409469	0.11422	0.486510664225	0.36956	T	0.034294	0.23262	T	-0.544993	0.00313	T	-0.547659	0.17551	T	0.00699830324474287	0.00080	T	0.888611	0.61875	D	0.083659455	0.19330	0.07778828	0.17362	0.083659455	0.19329	0.07778828	0.17362	-4.836	0.35008	T	.	.	0.191	0.40984	B	.	.	2.279837	0.29148	18.03	0.98546538949757334	0.42795	0.93470	0.58304	D	AEFDBI	0.227762	0.35152	N	-0.308814744371015	0.28811	1.59236	-0.113364895508075	0.34850	2.009394	0.86066448640555	0.25219	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	2.013000	0.40561	3.842000	0.40046	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0727:0.0:0.9273:0.0	14.043	0.64210	698	0.58074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	2117.33	42	chr3	183772434	.	G	T	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=760;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-1.013;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1343	18	0	1	0
chr3	183829630	183829630	T	G	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324437:exon8:c.A856C:p.N286H,PARL:NM_001037639:exon9:c.A958C:p.N320H,PARL:NM_001324436:exon9:c.A1006C:p.N336H,PARL:NM_018622:exon10:c.A1108C:p.N370H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.013024486116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.133	0.37730	T	0.241	0.37004	B	0.081	0.39112	B	0.003633	0.34687	N	0.283385	0.999638	0.21303	N	1.245	0.31408	L	0.52	0.55266	T	-1.67	0.39887	N	0.14	0.19995	-1.0248	0.22148	T	0.048	0.20632	T	10	0.055667162	0.06121	T	0.013024	0.32090	T	0.054	0.15330	0.172	0.07774	0.708053928561	0.70550	0.4552739247417924	0.45445	0.19268807253	0.21596	0.300830245018	0.10524	T	0.040247	0.25463	T	-0.16949	0.25313	T	-0.481237	0.24315	T	0.228731870651245	0.21891	T	0.843516	0.52087	T	0.03424236	0.03804	0.04952984	0.07589	0.03424236	0.03803	0.04952984	0.07589	-5.438	0.41284	T	.	.	0.074	0.09191	B	.;.;.;.	.;.;.;.	1.596025	0.20407	14.73	0.97929191533734383	0.36942	0.02220	0.06460	N	AEFBI	0.048961	0.08410	N	-0.567914745534952	0.19924	1.046609	-0.566135833155013	0.20379	1.097673	0.804660857360517	0.24248	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.7	1.93	0.24985	0.298000	0.18874	0.495000	0.18939	-0.137000	0.12594	0.014000	0.18986	0.767000	0.26670	0.997000	0.79791	0.1292:0.2134:0.1344:0.523	1.479	0.02286	612	0.66786	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	988.33	35	chr3	183829630	.	T	G	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=718;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.87;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	18	0	1	0
chr3	184032869	184032869	C	-	exonic	HTR3D	.	frameshift deletion	HTR3D:NM_001163646:exon1:c.39delC:p.L14Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.144e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	37	chr3	184032868	.	TC	T	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=719;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.413;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr3	184038574	184038574	C	T	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon5:c.C560T:p.A187V,HTR3D:NM_001145143:exon7:c.C935T:p.A312V,HTR3D:NM_001163646:exon7:c.C1085T:p.A362V	.	.	.	.	.	.	.	.	.	.	.	2352599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0209482959164	0.0002	0.000199681	0.0001	0.0002	0.0003	0.0002	0	0.0002	0	0	0.0001423	22	154602	rs142947621	0.0001	0.0001	0.0001	0.0001	0.0009	9.671e-05	9.15e-05	0.0004	0.0002	0.0001	0.0003	0	2.519e-05	0	0.0009	9.622e-05	0.0004	3.478e-05	0.0003	0.0003	0.0002	0.0004	0.0013	0.0002	0.0002	0.0009	0.0007	0.0003	0	0.0013	0	0.0004	0	0	0.0001	0.0014	0	0.127	0.27080	T	0.198	0.27767	T	0.085	0.35504	B	0.031	0.27757	B	0.291438	0.14762	N	0.580121	1	0.08975	N	1.13	0.28900	L	-1.53	0.81559	D	-1.41	0.34795	N	0.219	0.24510	-0.9180	0.45824	T	0.190	0.54198	T	10	0.039667934	0.02475	T	0.020948	0.43640	T	0.130	0.35528	.	.	0.457013227636	0.45327	0.07014313585679094	0.06951	0.188820646202	0.21197	.	.	.	0.083153	0.36990	T	-0.370641	0.03561	T	-0.459658	0.26636	T	0.0116401920778675	0.00178	T	0.335166	0.07140	T	0.030236257	0.02652	0.03743916	0.03398	0.030236257	0.02652	0.03743916	0.03397	-4.727	0.33730	T	.	.	0.086	0.11269	B	.;.;.;.	.;.;.;.	-0.573072	0.01647	0.115	0.90894572669957996	0.20143	0.01392	0.04728	N	AEFBI	0.063203	0.12198	N	-1.1135960296552	0.06400	0.2945053	-1.20487993132839	0.05831	0.2789497	0.00948587090056548	0.11862	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.53	-2.29	0.06419	-1.758000	0.01908	-4.836000	0.01964	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1685:0.2824:0.3314:0.2176	1.079	0.01537	239	0.90673	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	68	chr3	184038574	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=1034;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=1.26;QD=12.08;ReadPosRankSum=0.226;SOR=0.612	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr3	184038904	184038904	C	A	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon6:c.C769A:p.L257M,HTR3D:NM_001145143:exon8:c.C1144A:p.L382M,HTR3D:NM_001163646:exon8:c.C1294A:p.L432M	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	.	0.0090	0.00938498	0.0049	0.0255	0.0084	0.0002	0.0003	0.0023	0.0110	0.0035	0.0045795	708	154602	rs115389821	0.0026	0.0026	0.0026	0.0026	0.0273	0.0026	0.0025	0.0258	0.0252	0.0273	0.0079	0.0064	0.0004	0.0003	0.0135	0.0015	0.0062	0.0036	0.0089	0.0089	0.0088	0.0090	0.0225	0.0085	0.0083	0.0213	0.0208	0.0225	0	0.0114	0.0046	0	0.0003	0.0442	0.0022	0.0184	0.0048	0.036	0.43393	D	0.036	0.52060	D	0.372	0.68779	B	0.377	0.60615	B	0.000124	0.49741	D	0.000000	0.998285	0.22833	N	2.165	0.60562	M	-1.85	0.84267	D	-1.59	0.39503	N	0.459	0.51672	-0.3990	0.72059	T	0.438	0.77708	T	10	0.010040611	0.00225	T	.	.	.	0.469	0.76355	.	.	0.535584383668	0.53208	0.09576115716129735	0.09508	0.56031135281	0.52562	.	.	.	0.00821	0.07549	T	-0.305625	0.08140	T	-0.192861	0.55322	T	0.0194617689242302	0.00650	T	0.511449	0.16356	T	0.15048273	0.34256	0.15137953	0.35662	0.15048273	0.34256	0.15137953	0.35661	-6.913	0.58778	T	.	.	0.170	0.40164	B	.;.;.;.	.;.;.;.	3.198392	0.43488	21.7	0.9938717465868433	0.62157	0.97399	0.74502	D	AEFDGBI	0.397479	0.47354	N	0.188782622342907	0.50661	3.253971	0.215602674663568	0.50713	3.260472	0.938049403297843	0.27325	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.11	3.23	0.36150	4.016000	0.56871	1.049000	0.23621	0.596000	0.33519	0.998000	0.41325	0.063000	0.22074	0.583000	0.30967	0.0:0.878:0.0:0.122	7.056	0.24278	237	0.90758	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.070707	0.042120	0.014620	0.050000	0.008621	0.000000	0.000000	0.02632	3460.33	90	chr3	184038904	.	C	A	3460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=1826;ExcessHet=0;FS=0.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.6;MQRankSum=-2.979;QD=14.66;ReadPosRankSum=2.04;SOR=0.763	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr3	184233337	184233337	C	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon3:c.C470A:p.T157N	.	412	1106	3	1	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0236403804416	.	0.000199681	0.0022	0.0023	0.0043	0	0	0.0023	0	0.0021	0.0002587	40	154602	rs548730521	0.0010	0.0009	0.0009	0.0010	0.0013	0.0009	0.0009	0.0011	0.0010	0.0004	0.0004	0.0010	0	0.0002	0.0004	0.0011	0.0006	0.0013	0.0008	0.0008	0.0009	0.0008	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0004	0.0020	0	0	0	0.0013	0	0.0010	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.61	0.41143	L	0.76	0.49919	T	-2.81	0.59389	D	0.495	0.52829	-0.7119	0.59859	T	0.231	0.59682	T	9	0.01944679	0.00434	T	0.02364	0.46609	T	0.105	0.29889	.	.	0.60213386617	0.59895	0.7777761007718031	0.77727	1.70097506575	0.90296	0.702666819096	0.67530	T	0.002099	0.01509	T	-0.410283	0.01979	T	-0.386747	0.34931	T	0.0176681367121807	0.00499	T	0.749925	0.37107	T	0.3085608	0.53661	0.4765941	0.69674	0.3085608	0.53661	0.4765941	0.69674	-9.645	0.71759	D	.	.	0.401	0.59628	A	.	.	4.387511	0.67679	25.1	0.99151033751765749	0.53820	0.96301	0.68472	D	AEFDBI	0.680506	0.64417	D	0.478173977567875	0.65818	4.870497	0.437437031807813	0.63912	4.634988	0.999974992469125	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	2.924000	0.48572	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	14.522	0.67445	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr3	184233337	.	C	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.755;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1153	18	0	1	0
chr3	184241313	184241313	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon16:c.G2435A:p.R812Q,VWA5B2:NM_138345:exon18:c.G3089A:p.R1030Q	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00462073205793	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943003452	2.931e-05	2.805e-05	3.244e-05	2.609e-05	0.0004	2.18e-05	1.962e-05	0.0003	0.0002	3.165e-05	0.0001	0	0.0004	2.047e-05	0	1.854e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.40832	D	0.203	0.27325	T	0.922	0.51142	P	0.163	0.34892	B	0.038948	0.24226	N	0.286637	0.999756	0.20482	N	.	.	.	2.88	0.17923	T	-1.29	0.32387	N	0.122	0.11340	-1.0224	0.22932	T	0.033	0.14247	T	10	0.04551524	0.03632	T	0.004621	0.11440	T	0.027	0.05988	.	.	0.0551355673512	0.04727	0.5145790085973394	0.51379	0.732076528421	0.62769	0.372174859047	0.21143	T	0.084718	0.37341	T	-0.455243	0.01051	T	-0.512206	0.21088	T	0.0981554687023163	0.12153	T	0.841416	0.51702	T	0.10129113	0.23925	0.14559361	0.34524	0.10129113	0.23925	0.14559361	0.34523	-4.97	0.36512	T	.	.	0.086	0.14979	B	.;.	.;.	2.085054	0.26522	17.15	0.99075467870944367	0.51834	0.01948	0.05923	N	AEFBCI	0.155735	0.28097	N	-0.678056457258939	0.16648	0.8500624	-0.782644045725467	0.14921	0.7821408	0.99984066191042	0.43971	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.51	1.75	0.23707	1.747000	0.37925	3.632000	0.39319	0.676000	0.76740	0.198000	0.24285	1.000000	0.68203	0.027000	0.12703	0.302:0.0:0.698:0.0	6.576	0.21764	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	35	chr3	184241313	.	G	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=717;ExcessHet=0;FS=3.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.915;SOR=1.142	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	18	0	1	0
chr3	184326895	184326895	C	T	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon16:c.C2755T:p.R919C,EIF4G1:NM_198242:exon19:c.C2848T:p.R950C,EIF4G1:NM_198244:exon20:c.C3079T:p.R1027C,EIF4G1:NM_182917:exon22:c.C3343T:p.R1115C,EIF4G1:NM_001194947:exon23:c.C3361T:p.R1121C,EIF4G1:NM_001291157:exon23:c.C3220T:p.R1074C,EIF4G1:NM_198241:exon23:c.C3340T:p.R1114C,EIF4G1:NM_001194946:exon24:c.C3361T:p.R1121C	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.019439800465	7.7e-05	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs150054202	4.104e-06	4.104e-06	1.361e-06	6.875e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0	3.597e-06	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.055180	1	0.81001	D	2.545	0.74286	M	3.74	0.04905	T	-4.9	0.81514	D	0.895	0.91391	-1.1758	0.00435	T	0.070	0.28445	T	10	0.7888348	0.78482	D	0.01944	0.41802	T	0.277	0.59375	.	.	0.557128652785	0.55373	0.7068249356968431	0.70624	1.38216369645	0.84803	0.646243214607	0.59452	T	0.572792	0.85883	D	0.0754097	0.61500	D	0.0520723	0.73721	D	0.989951074123383	0.80172	D	0.993092	0.97891	D	0.5286567	0.68754	0.36647794	0.61976	0.5286567	0.68755	0.36647794	0.61976	-9.175	0.70392	D	.	.	0.528	0.65833	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.683778	0.93016	33	0.99945719546262513	0.99901	0.99020	0.90058	D	AEFBCI	0.919451	0.88999	D	0.791869276743714	0.85595	8.622962	0.761645240016221	0.87026	9.081573	0.999999999999985	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	4.991000	0.63616	5.863000	0.50453	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:1.0:0.0:0.0	18.077	0.89360	912	0.21483	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.33	35	chr3	184326895	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=724;ExcessHet=0;FS=1.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-2.013;SOR=0.985	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1384	18	0	1	0
chr3	184344792	184344792	C	T	exonic	FAM131A	.	nonsynonymous SNV	FAM131A:NM_001366133:exon5:c.C668T:p.S223L,FAM131A:NM_001171093:exon6:c.C668T:p.S223L,FAM131A:NM_144635:exon6:c.C923T:p.S308L,FAM131A:NM_001366134:exon7:c.C668T:p.S223L	.	433	1088	1	0	0	1	0.000459348	.	.	.	2269537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0114463849395	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs138134153	0.0001	0.0001	8.589e-05	0.0001	0.0007	9.818e-05	9.233e-05	0.0005	0.0004	0.0002	0	0	0	1.938e-05	0.0007	8.274e-05	0.0001	0.0006	8.532e-05	8.529e-05	0.0001	6.71e-05	0.0004	4.952e-05	3.958e-05	7.909e-05	5.995e-05	0	0	6.531e-05	0	0	0	0	0.0001	0	0.0004	0.165	0.28148	T	0.167	0.34009	T	0.011	0.15914	B	0.007	0.12992	B	0.293503	0.14725	N	0.646591	1	0.81001	D	0.55	0.14455	N	1.88	0.23884	T	-0.27	0.17417	N	0.149	0.39558	-1.0625	0.11142	T	0.038	0.16203	T	10	0.05492884	0.05925	T	0.011446	0.29087	T	0.055	0.15663	.	.	0.215109475489	0.21095	0.2525001106502619	0.25164	0.356215154731	0.37372	0.478987038136	0.35918	T	.	.	.	-0.373774	0.03408	T	-0.446717	0.28060	T	0.0386876847412976	0.03453	T	0.863614	0.59164	D	0.05972023	0.12171	0.047497615	0.06855	0.05972023	0.12170	0.047497615	0.06854	-3.78	0.20506	T	.	.	0.106	0.19800	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.065018	0.41174	21.3	0.99151921869598136	0.53848	0.69895	0.34370	D	AEFDBCI	0.190008	0.31725	N	-0.25826815107972	0.30774	1.719143	-0.116584352081505	0.34721	2.000462	0.999780001381845	0.43007	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	4.73	2.57	0.29928	2.840000	0.47915	3.960000	0.40741	0.594000	0.32500	0.991000	0.37257	1.000000	0.68203	0.984000	0.60418	0.0:0.4582:0.0:0.5418	4.296	0.10344	913	0.21160	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	183	chr3	184344792	.	C	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=825;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=0.618;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1319	18	0	1	0
chr3	184353348	184353348	G	A	exonic	CLCN2	.	nonsynonymous SNV	CLCN2:NM_001171088:exon16:c.C1798T:p.R600C,CLCN2:NM_001171087:exon17:c.C1879T:p.R627C,CLCN2:NM_001171089:exon17:c.C1930T:p.R644C,CLCN2:NM_004366:exon17:c.C1930T:p.R644C	Leukoencephalopathy with ataxia, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	214428	not_provided|Familial_hyperaldosteronism_type_II|Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema|Epilepsy,_idiopathic_generalized,_susceptibility_to,_11|CLCN2-related_disorder	MedGen:C3661900|MONDO:MONDO:0011576,MedGen:C1854107,OMIM:605635,Orphanet:404|MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540|MONDO:MONDO:0011875,MedGen:C2750893,OMIM:607628,Orphanet:307|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.702	0.386947497132	0.0008	0.00219649	0.0020	9.899e-05	0.0013	0	0	0.0013	0.0022	0.0079	0.001727	267	154602	rs148545588	0.0016	0.0016	0.0014	0.0018	0.0080	0.0015	0.0015	0.0075	0.0073	0.0003	0.0014	0.0080	0	0	0.0021	0.0011	0.0026	0.0080	0.0014	0.0014	0.0014	0.0014	0.0081	0.0013	0.0012	0.0061	0.0054	0.0004	0	0.0029	0.0092	0	0	0.0068	0.0012	0.0019	0.0081	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051901	1	0.81001	D	3.12	0.87914	M	-2.4	0.88455	D	-6.68	0.92391	D	0.857	0.88356	0.654	0.92593	D	0.766	0.92037	D	10	0.017526686	0.00375	T	0.386947	0.93101	D	0.702	0.89284	.	.	0.973735163585	0.97345	0.5790541243793773	0.57834	1.12173174847	0.78316	0.567868113518	0.48376	T	0.596564	0.87008	D	-0.0294601	0.47496	T	0.190174	0.82580	D	0.135102088183494	0.15845	T	0.959804	0.85735	D	0.6149127	0.73491	0.41207558	0.65421	0.6035984	0.72885	0.45449358	0.68281	-10.281	0.76109	D	0.8525024356825835	0.91826	0.230	0.48613	B	.;.;.;.	.;.;.;.	5.041179	0.83904	28.2	0.99941098437012743	0.99797	0.98525	0.83712	D	AEFGBI	0.743447	0.68675	D	0.783182918296974	0.85043	8.459995	0.745799855015292	0.85841	8.703133	0.999999977104317	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	2.897000	0.48363	9.889000	0.82259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:0.0:0.8499:0.1501	14.153	0.64936	911	0.21964	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.015152	0.02632	1179.33	39	chr3	184353348	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.665;DP=819;ExcessHet=0;FS=2.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-1.269;SOR=0.417	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr3	184358977	184358977	C	T	exonic	CLCN2	.	nonsynonymous SNV	CLCN2:NM_001171087:exon2:c.G218A:p.R73H,CLCN2:NM_001171088:exon2:c.G218A:p.R73H,CLCN2:NM_001171089:exon2:c.G218A:p.R73H,CLCN2:NM_004366:exon2:c.G218A:p.R73H	Leukoencephalopathy with ataxia, Autosomal recessive	1	1512	9	0	0	9	0.00296736	0.0001	0.016	.	214444	Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema|not_provided|CLCN2-related_disorder|not_specified	MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	0.112669331794	0.0018	0.000798722	0.0026	0.0003	0.0009	0	0.0091	0.0031	0.0022	0.0024	0.0022962	355	154602	rs144412275	0.0021	0.0021	0.0020	0.0022	0.0049	0.0020	0.0020	0.0035	0.0030	0.0003	0.0008	0.0002	0	0.0091	0.0049	0.0020	0.0016	0.0019	0.0020	0.0020	0.0018	0.0022	0.0026	0.0018	0.0017	0.0023	0.0022	0.0003	0	0.0005	0	0	0.0090	0.0034	0.0026	0.0019	0.0017	0.166	0.52492	T	0.141	0.65728	T	0.002	0.12183	B	0.001	0.08700	B	0.001226	0.39743	N	0.166139	1	0.81001	D	1.295	0.32453	L	-1.92	0.84773	D	-1.09	0.30346	N	0.736	0.73645	-0.3825	0.72573	T	0.462	0.79140	T	10	0.008010447	0.00221	T	0.112669	0.79089	D	0.476	0.76816	.	.	0.795139984237	0.79323	0.4061443546484251	0.40530	0.355573427921	0.37314	0.403641432524	0.25576	T	0.199539	0.55684	T	-0.194094	0.21658	T	-0.052417	0.66857	D	0.0230246977345587	0.01026	T	0.850615	0.53448	D	0.038138475	0.05025	0.029830104	0.01366	0.051851172	0.09585	0.036840748	0.03211	-8.256	0.62801	D	0.16337366042337542	0.20126	0.105	0.24901	B	.;.;.;.;.	.;.;.;.;.	1.654789	0.21106	15.05	0.99050560948796329	0.51253	0.47293	0.27950	N	AEFBI	0.253923	0.37334	N	-0.642938217995712	0.17667	0.9110069	-0.581937714042541	0.19964	1.073512	0.999992531837411	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.567892	0.33627	0	.	.	4.6	3.73	0.41982	-0.337000	0.07898	0.390000	0.17879	-0.177000	0.10537	0.000000	0.06391	0.992000	0.31684	0.881000	0.42162	0.0:0.9126:0.0:0.0874	11.024	0.46949	907	0.22727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1180.33	43	chr3	184358977	.	C	T	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=713;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-1.157;SOR=0.416	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr3	184368264	184368264	T	A	exonic	POLR2H	.	nonsynonymous SNV	POLR2H:NM_001278698:exon5:c.T487A:p.L163I,POLR2H:NM_001346879:exon5:c.T379A:p.L127I	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0054	0.00299521	0.0059	0.0020	0.0038	0	0.0032	0.0090	0.0023	0.0013	0.0055756	862	154602	rs41543313	0.0064	0.0064	0.0067	0.0062	0.0077	0.0063	0.0063	0.0076	0.0075	0.0012	0.0036	0.0005	0	0.0024	0.0040	0.0077	0.0061	0.0011	0.0047	0.0047	0.0054	0.0040	0.0081	0.0044	0.0043	0.0076	0.0073	0.0013	0.0055	0.0046	0.0003	0	0.0020	0.0102	0.0081	0.0038	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.14	0.09135	N	0.203	0.22486	-0.3618	0.73210	T	0.222	0.58498	T	5	0.004061103	0.00079	T	.	.	.	0.079	0.23065	.	.	0.243187853663	0.23924	0.30279045500957597	0.30192	.	.	.	.	.	.	.	.	-0.528573	0.00392	T	-0.525354	0.19754	T	0.0257210508345898	0.01369	T	0.259974	0.04152	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.083	0.09288	B	.	.	0.110803	0.05102	1.635	0.86846517202047036	0.16812	0.39277	0.26177	N	AEBCI	0.070818	0.14074	N	-0.427388170555457	0.24512	1.324108	-0.53313488273555	0.21255	1.149004	0.999997583904363	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.74	-6.8	0.01548	-0.521000	0.06331	-1.324000	0.05715	-0.122000	0.13826	0.163000	0.23839	0.000000	0.08366	0.995000	0.73285	0.0:0.0639:0.6444:0.2917	13.273	0.59607	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	983.33	33	chr3	184368264	.	T	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=705;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-0.167;SOR=0.421	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1417	18	0	1	0
chr3	184373063	184373063	A	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon6:c.T512G:p.L171R,THPO:NM_001177597:exon6:c.T500G:p.L167R,THPO:NM_001290028:exon6:c.T512G:p.L171R,THPO:NM_001289998:exon7:c.T512G:p.L171R,THPO:NM_001290003:exon7:c.T932G:p.L311R,THPO:NM_001290022:exon7:c.T500G:p.L167R	Thrombocythemia 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.105047595066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.998	0.73220	D	0.892	0.63276	P	0.000823	0.41547	D	0.000000	1	0.81001	D	2.24	0.63355	M	-0.13	0.64818	T	-1.67	0.50012	N	0.853	0.85343	-0.6020	0.64735	T	0.245	0.61389	T	10	0.42954317	0.57399	T	0.105048	0.77995	D	0.364	0.68407	0.386	0.40624	0.819232285153	0.81752	0.33267852982529267	0.33180	0.973302796414	0.73459	0.431510597467	0.29415	T	0.544861	0.84482	D	0.152337	0.69486	D	-0.0189546	0.69097	D	0.953813433647156	0.64116	D	0.573243	0.20505	T	0.5103882	0.67702	0.35186973	0.60773	0.5103882	0.67703	0.35186973	0.60773	-3.756	0.20149	T	0.13995634362985418	0.15620	0.249	0.52937	B	.;.;.;.;.	.;.;.;.;.	3.934172	0.57522	23.9	0.99734355869644953	0.82975	0.87011	0.46425	D	AEFDBCI	0.446755	0.50268	N	0.287783890755577	0.55530	3.71691	0.268412058480272	0.53705	3.538081	0.999997897798877	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	4.32	4.32	0.50899	3.147000	0.50335	9.303000	0.79891	0.662000	0.56354	0.999000	0.42656	1.000000	0.68203	0.330000	0.25202	1.0:0.0:0.0:0.0	9.810	0.39985	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4040.33	92	chr3	184373063	.	A	C	4040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.064;DP=1658;ExcessHet=0;FS=2.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.693;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1299	18	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.02632	2278.33	52	chr3	184383641	.	C	T	2278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.593;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.797;SOR=0.688	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1255	18	0	1	0
chr3	184870747	184870747	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon19:c.G1637A:p.R546Q,VPS8:NM_001009921:exon20:c.G1676A:p.R559Q,VPS8:NM_001349293:exon20:c.G1676A:p.R559Q,VPS8:NM_001349294:exon20:c.G1676A:p.R559Q,VPS8:NM_001349295:exon20:c.G1676A:p.R559Q,VPS8:NM_015303:exon20:c.G1670A:p.R557Q,VPS8:NM_001349292:exon21:c.G1676A:p.R559Q	.	437	1082	3	0	0	3	0.0013844	.	.	.	3626676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00924875835884	.	.	9.178e-05	0	0.0001	0	0	3.674e-05	0.0014	0.0004	5.82e-05	9	154602	rs759209310	5.479e-05	5.472e-05	4.36e-05	6.609e-05	0.0002	4.482e-05	4.152e-05	0.0001	0.0001	0	0	0	0	0	0.0002	5.4e-05	3.315e-05	0.0002	2.629e-05	2.625e-05	0	5.379e-05	0.0004	8.14e-06	5.14e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0004	0.263	0.16412	T	0.413	0.14412	T	0.979	0.59044	D	0.236	0.38470	B	0.008473	0.30825	N	0.307987	1	0.08975	N	1.61	0.41143	L	2.2	0.18570	T	-0.46	0.14978	N	0.481	0.52119	-1.0189	0.24074	T	0.028	0.12190	T	10	0.09655419	0.17327	T	0.009249	0.24296	T	0.063	0.18251	.	.	0.388174495139	0.38433	0.2972052126229819	0.29633	.	.	0.375344634056	0.21595	T	0.012998	0.11321	T	-0.356992	0.04303	T	-0.454379	0.27213	T	0.107100136578083	0.13120	T	0.961904	0.85651	D	0.05580201	0.10893	0.0627907	0.12340	0.05580201	0.10892	0.0627907	0.12339	-4.536	0.31356	T	.	.	0.102	0.17995	B	.;.;.;.	.;.;.;.	4.547077	0.71521	25.7	0.99804068594047035	0.88817	0.63938	0.32246	D	AEFBI	0.109239	0.21704	N	0.0384551503671863	0.43612	2.650765	0.177563711825325	0.48621	3.075504	0.00164433690865032	0.08740	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.35	4.47	0.53770	2.849000	0.47985	8.656000	0.77953	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.998000	0.85391	0.1524:0.0:0.8476:0.0	9.776	0.39786	765	0.49814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2827.81	33	chr3	184870747	.	G	A	2827.81	.	AC=2;AF=0.053;AN=38;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1106	18	1	0	0
chr3	184886122	184886122	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon20:c.G1708A:p.V570I,VPS8:NM_001009921:exon21:c.G1747A:p.V583I,VPS8:NM_001349293:exon21:c.G1747A:p.V583I,VPS8:NM_001349294:exon21:c.G1747A:p.V583I,VPS8:NM_001349295:exon21:c.G1747A:p.V583I,VPS8:NM_001349297:exon21:c.G28A:p.V10I,VPS8:NM_015303:exon21:c.G1741A:p.V581I,VPS8:NM_001349292:exon22:c.G1747A:p.V583I	.	437	1071	14	0	0	14	0.00649351	.	.	.	720328	VPS8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00888207575459	0.0043	0.000998403	0.0040	0.0015	0.0015	0	0.0002	0.0062	0.0086	0.0020	0.0028784	445	154602	rs61742617	0.0038	0.0038	0.0038	0.0038	0.0052	0.0037	0.0037	0.0044	0.0044	0.0006	0.0012	0.0017	2.527e-05	0.0004	0.0052	0.0045	0.0032	0.0018	0.0026	0.0026	0.0030	0.0021	0.0045	0.0024	0.0023	0.0041	0.0039	0.0011	0	0.0014	0.0003	0	0.0002	0.0068	0.0045	0.0052	0.0019	0.038	0.42783	D	0.122	0.35710	T	0.865	0.47557	P	0.421	0.45113	B	0.001579	0.38612	N	0.257927	0.990834	0.81001	D	1.79	0.46772	L	2.07	0.20387	T	-0.37	0.13226	N	0.261	0.31590	-1.0432	0.16354	T	0.025	0.10598	T	10	0.011211127	0.00246	T	0.008882	0.23415	T	0.061	0.17616	.	.	0.354610295913	0.35065	0.35082575116241993	0.34996	.	.	0.336408913136	0.15899	T	0.016591	0.13686	T	-0.516923	0.00458	T	-0.511994	0.21110	T	0.0160576871120795	0.00385	T	0.860314	0.55333	D	0.047003925	0.07961	0.052382987	0.08618	0.047003925	0.07961	0.052382987	0.08617	-6.081	0.46952	T	.	.	0.078	0.07412	B	.;.;.	.;.;.	1.785745	0.22700	15.73	0.99558418248310299	0.71583	0.90107	0.51028	D	AEFBI	0.183403	0.31073	N	-0.0418415516867627	0.39967	2.365649	0.013562200068986	0.40343	2.406199	2.565026486874E-4	0.06190	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.1	0.26226	2.102000	0.41421	0.130000	0.15034	0.656000	0.54149	0.997000	0.40164	0.001000	0.17328	0.999000	0.91618	0.2366:0.0:0.6434:0.1201	6.117	0.19354	744	0.52588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.006793	0.000000	0.000000	0.008621	0.006135	0.007576	0.02632	751.33	34	chr3	184886122	.	G	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.717;DP=682;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.068;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	18	0	1	0
chr3	185527573	185527573	G	C	exonic	LIPH	.	nonsynonymous SNV	LIPH:NM_139248:exon4:c.C539G:p.A180G	Hypotrichosis 7, Autosomal recessive;Woolly hair, autosomal recessive 2 with or without hypotrichosis, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	2379318	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.938	0.415042497366	7.7e-05	.	0.0002	0	0.0002	0	0	7.493e-05	0.0011	0.0010	0.0001682	26	154602	rs138900382	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	5.979e-05	0.0002	0	0	0	0.0014	7.298e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	9.332e-05	0.0007	0.0005	2.433e-05	0	0.0007	0	0	0	0	8.851e-05	0	0.0016	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.23	0.97958	H	-3.16	0.92996	D	-3.82	0.71997	D	0.877	0.87481	1.088	0.99168	D	0.941	0.98074	D	10	0.86513126	0.85753	D	0.415042	0.93677	D	0.938	0.98636	.	.	0.997387421742	0.99736	0.9462759170524324	0.94609	0.578496217759	0.53757	0.559158325195	0.47149	T	0.953027	0.99337	D	0.212016	0.75021	D	0.475422	0.94107	D	0.80437034368515	0.46653	D	0.945105	0.79107	D	0.94940066	0.96204	0.91132766	0.95783	0.94940066	0.96205	0.91132766	0.95784	-15.705	0.97285	D	0.8421534748498323	0.91041	0.766	0.75749	P	.	.	5.455530	0.91101	32	0.99815528232338246	0.89885	0.95372	0.64463	D	AEFDBHCI	0.942127	0.94631	D	1.11008586591157	0.98317	17.95384	1.02402831731378	0.99040	20.39454	0.999999999999997	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.542086	0.14980	0	.	.	5.8	5.8	0.92081	9.306000	0.95285	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	19.030	0.92933	743	0.52768	Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	1057.33	38	chr3	185527573	.	G	C	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=755;ExcessHet=0;FS=5.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-2.194;SOR=1.263	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	0	1	0
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I,DGKG:NM_001080745:exon24:c.G2199C:p.M733I,DGKG:NM_001346:exon25:c.G2316C:p.M772I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	261.44	26	chr3	186150150	.	C	G	261.44	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.989;DP=527;ExcessHet=0.3672;FS=187.346;InbreedingCoeff=-0.2269;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=0.496;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,4:34:40:.:.:0,40,652:.	10	0	2	7
chr3	186150150	186150150	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241A:p.M747I,DGKG:NM_001080745:exon24:c.G2199A:p.M733I,DGKG:NM_001346:exon25:c.G2316A:p.M772I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00859096310238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401138172	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.16507882	0.30865	T	0.008591	0.22705	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.14645895888831176	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731992	0.40813	T	-0.342922	0.40012	T	0.488949269197456	0.32226	T	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.748954	0.53721	23.4	0.99049024059349722	0.51207	0.80611	0.40203	D	AEFBI	0.402778	0.47673	N	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	261.44	26	chr3	186150150	.	C	T	261.44	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.989;DP=527;ExcessHet=0.3672;FS=187.346;InbreedingCoeff=-0.2269;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=0.496;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:34:40:.:.:0,84,707:.	11	0	1	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T,DGKG:NM_001080745:exon24:c.T2198C:p.M733T,DGKG:NM_001346:exon25:c.T2315C:p.M772T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1154	268.55	26	chr3	186150151	.	A	G	268.55	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-1.712;DP=536;ExcessHet=0.3672;FS=156.254;InbreedingCoeff=-0.2123;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=1.24;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:30,0:30:0:.:.:0,0,556:.	10	0	3	6
chr3	186251809	186251809	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon18:c.G1636A:p.G546R,DGKG:NM_001080745:exon18:c.G1594A:p.G532R,DGKG:NM_001346:exon19:c.G1711A:p.G571R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.035765125741	.	.	4.128e-05	0	0	0	0	1.501e-05	0	0.0002	3.23e-05	5	154602	rs79928844	3.352e-05	3.42e-05	3.54e-05	3.163e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	5.975e-05	2.237e-05	0	7.56e-05	0	0.0002	1.799e-05	1.656e-05	0.0002	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.01	0.58626	D	0.01	0.65728	D	0.999	0.90584	D	0.952	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	0.6	0.54540	T	-5.79	0.88065	D	0.77	0.76760	-0.3579	0.73325	T	0.334	0.70101	T	10	0.7538474	0.75834	D	0.035765	0.56560	D	0.451	0.75143	0.277	0.23004	0.88496615109	0.88383	0.6973716162950228	0.69678	0.463572617837	0.45859	0.733421444893	0.72006	T	0.371873	0.73616	T	0.086979	0.62847	D	0.146842	0.79983	D	0.861284852027893	0.51168	D	0.962204	0.86689	D	0.49472776	0.66784	0.4131499	0.65496	0.49472776	0.66785	0.4131499	0.65496	-10.06	0.79675	D	.	.	0.608	0.69202	P	.;.;.	.;.;.	5.248700	0.88117	29.5	0.9987160441080144	0.94902	0.99077	0.90888	D	AEFDBI	0.967388	0.98986	D	0.759226325055771	0.83506	8.034875	0.71744485843587	0.83703	8.092018	0.999999999999936	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.905000	0.86479	7.719000	0.67224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.022	0.86309	573	0.70213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2926.83	39	chr3	186251809	.	C	T	2926.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.4;DP=850;ExcessHet=0.119;FS=0.976;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.068;SOR=0.695	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1252,0,1093	17	0	2	0
chr3	186620776	186620776	G	A	exonic	AHSG	.	nonsynonymous SNV	AHSG:NM_001354573:exon6:c.G866A:p.R289H,AHSG:NM_001354571:exon7:c.G953A:p.R318H,AHSG:NM_001354572:exon7:c.G947A:p.R316H,AHSG:NM_001622:exon7:c.G950A:p.R317H	.	419	1102	1	0	0	1	0.000453515	.	.	YES	481154	Alopecia-intellectual_disability_syndrome_1	MONDO:MONDO:0021035,MedGen:C1859878,OMIM:203650	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.155	0.0104644665876	0.0002	0.000399361	8.249e-05	9.664e-05	8.646e-05	0	0	6.003e-05	0	0.0002	9.06e-05	14	154602	rs201849460	7.388e-05	7.388e-05	6.534e-05	8.25e-05	0.0003	6.248e-05	5.807e-05	0.0002	0.0002	0	0.0002	0	2.519e-05	0	0	5.935e-05	0.0001	0.0003	7.224e-05	7.218e-05	8.997e-05	5.372e-05	0.0006	3.969e-05	3.126e-05	0.0002	9.014e-05	4.813e-05	0	0	0	0	0	0	8.822e-05	0	0.0006	0.002	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.987	0.77487	D	0.126003	0.18821	N	0.476987	0.946655	0.26624	N	2.505	0.72935	M	3.09	0.08460	T	-2.11	0.48020	N	0.56	0.74553	-1.1152	0.02659	T	0.060	0.24981	T	10	0.40598676	0.55895	T	0.010464	0.27023	T	0.155	0.40530	.	.	0.569101917167	0.56574	0.34989199239960084	0.34903	0.503748791046	0.48683	0.466874361038	0.34252	T	0.420399	0.77212	T	-0.331399	0.06006	T	-0.42166	0.30885	T	0.109173275597811	0.13337	T	0.864214	0.56114	D	0.104659885	0.24742	0.1021929	0.24486	0.084728524	0.19623	0.11312034	0.27297	-2.967	0.09830	T	.	.	0.184	0.39832	B	.;.	.;.	3.732557	0.53402	23.4	0.99903793928295981	0.97502	0.33212	0.24774	N	AEFDBHCI	0.703684	0.65964	D	0.175344635353657	0.50016	3.195922	0.00601018280282631	0.39992	2.379822	0.99999984341093	0.74766	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	5.47	2.59	0.30091	1.543000	0.35754	7.295000	0.58069	0.671000	0.69459	0.491000	0.26886	1.000000	0.68203	0.078000	0.17132	0.0887:0.3339:0.5774:0.0	7.225	0.25185	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	37	chr3	186620776	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.6;SOR=0.732	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1921,0,1584	18	0	1	0
chr3	186671788	186671788	T	C	exonic	HRG	.	nonsynonymous SNV	HRG:NM_000412:exon4:c.T557C:p.V186A	Thrombophilia due to HRG deficiency, Autosomal dominant;Thrombophilia due to elevated HRG, Autosomal dominant	.	.	.	.	.	.	.	0	0.002	.	3971964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00231536100543	.	.	5.776e-05	0	0	0	0	9.001e-05	0	6.07e-05	4.53e-05	7	154602	rs201250387	3.148e-05	3.147e-05	3.268e-05	3.026e-05	0.0007	2.413e-05	2.158e-05	0.0002	0.0001	0	0	0	0	0	0.0007	3.328e-05	3.313e-05	3.478e-05	2.643e-05	2.631e-05	2.58e-05	2.708e-05	5.895e-05	8.17e-06	5.16e-06	1.976e-05	1.127e-05	0	0	0	0	0	0	0	5.895e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.406237	0.04565	N	1.475760	1	0.08975	N	-0.515	0.02571	N	2.29	0.17113	T	1.62	0.00637	N	0.047	0.01911	-1.0629	0.11045	T	0.011	0.03996	T	10	0.037033558	0.02033	T	0.002315	0.04452	T	0.046	0.12618	.	.	0.0482279557977	0.04254	0.11375319271105756	0.11303	0.0922650661797	0.10416	0.335345059633	0.15740	T	0.055856	0.30123	T	-0.518719	0.00448	T	-0.791198	0.02132	T	0.0273150534337971	0.01589	T	0.256474	0.04006	T	0.015798967	0.00158	0.027912755	0.00981	0.015798967	0.00158	0.027912755	0.00980	-3.256	0.13176	T	0.07181482645762964	0.02892	0.125	0.26357	B	.	.	-3.744263	0.00002	0.001	0.18381620489875325	0.00576	0.00268	0.01460	N	AEFBI	0.369639	0.45629	N	-2.71213166213678	0.00005	0.0002203021	-2.75429339701056	0.00006	0.0002608193	0.99999999995993	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	-10.4	0.00257	-5.285000	0.00160	-20.000000	0.00162	-5.186000	0.00013	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.137:0.0892:0.2042:0.5696	5.612	0.16690	940	0.13648	Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	527.33	37	chr3	186671788	.	T	C	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=723;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=0.954;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1243	18	0	1	0
chr3	186741585	186741585	A	C	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_001166451:exon9:c.A1081C:p.K361Q,KNG1:NM_000893:exon10:c.A1189C:p.K397Q,KNG1:NM_001102416:exon10:c.A1189C:p.K397Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00318795038732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.35537	T	0.138	0.48855	T	0.707	0.42016	P	0.299	0.41006	B	0.201627	0.03324	N	1.585020	1	0.08975	N	1.67	0.42885	L	2.35	0.25678	T	-1.0	0.35991	N	0.056	0.10911	-0.9532	0.40416	T	0.053	0.22462	T	10	0.118202835	0.22342	T	0.003188	0.06996	T	0.060	0.17295	0.314	0.28935	0.268660756437	0.26461	0.3954710042193623	0.39462	0.0737171720781	0.08266	0.213217824697	0.00955	T	0.276541	0.64913	T	-0.355837	0.04371	T	-0.748911	0.03529	T	0.13101558985902	0.15476	T	0.646135	0.26583	T	0.08316409	0.19193	0.07316507	0.15868	0.08316409	0.19193	0.07316507	0.15868	-3.838	0.21373	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	0.280167	0.06573	3.060	0.39860921061931748	0.02777	0.08700	0.14591	N	AEBI	0.761657	0.69930	D	-1.18455178337909	0.05233	0.2380878	-1.35766372336836	0.03716	0.1739217	0.999999697123509	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.18	-7.34	0.01280	-0.305000	0.08227	-0.390000	0.09482	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3161:0.0:0.6839:0.0	15.123	0.72133	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	33	chr3	186741585	.	A	C	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.218;DP=660;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.44;SOR=1.098	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1213	18	0	1	0
chr3	186804706	186804706	G	A	exonic	RFC4	.	nonsynonymous SNV	RFC4:NM_002916:exon2:c.C8T:p.A3V,RFC4:NM_181573:exon2:c.C8T:p.A3V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0427719351424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	2.15	0.50459	T	-2.45	0.74051	N	0.73	0.73105	-0.3318	0.74081	T	0.328	0.69581	T	10	0.3876762	0.54661	T	0.042772	0.60640	D	0.233	0.53499	0.167	0.07186	0.664611728801	0.66179	0.479623303267401	0.47882	0.316716437892	0.33929	0.619127929211	0.55606	T	0.039146	0.42981	T	0.17514	0.71595	D	0.0138005	0.71228	D	0.983434200286865	0.75103	D	0.969103	0.88867	D	0.39475176	0.60367	0.38444328	0.63385	0.39475176	0.60368	0.38444328	0.63385	-10.315	0.75776	D	.	.	0.689	0.75132	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.330957	0.89461	30	0.99916232242530201	0.98449	0.98802	0.87042	D	AEFBI	0.712495	0.66560	D	0.794304985913698	0.85748	8.669676	0.7466839339386	0.85910	8.723277	0.999999999999463	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.32	5.32	0.75377	8.763000	0.91362	11.668000	0.94068	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.851	0.85860	856	0.34373	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1087.33	40	chr3	186804706	.	G	A	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.009;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.636;SOR=0.636	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1444	18	0	1	0
chr3	187199976	187199976	G	T	exonic	RTP1	.	nonsynonymous SNV	RTP1:NM_153708:exon2:c.G698T:p.G233V	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	0.00638978	0.0035	0	0	0	0	0	0.0012	0.0363	0.0034734	537	154602	rs370018432	0.0019	0.0020	0.0010	0.0028	0.0316	0.0019	0.0018	0.0306	0.0302	0	2.411e-05	0	2.538e-05	0	0.0016	3.007e-05	0.0020	0.0316	0.0009	0.0009	0.0004	0.0013	0.0268	0.0007	0.0007	0.0230	0.0216	2.405e-05	0	6.533e-05	0	0	0	0	0	0	0.0268	0.055	0.38407	T	0.06	0.45744	T	0.18	0.29046	B	0.031	0.21939	B	0.000198	0.48115	D	0.092841	0.999936	0.51612	D	1.35	0.33515	L	-0.3	0.67874	T	-1.1	0.28497	N	0.278	0.31478	-0.7975	0.55292	T	0.195	0.54869	T	10	0.0046980083	0.00099	T	.	.	.	0.133	0.36157	0.522	0.62518	0.314436011497	0.31061	0.6390223661705394	0.63836	0.407534205699	0.41611	0.523221313953	0.42080	T	0.110935	0.42602	T	-0.338232	0.05511	T	-0.234939	0.51292	T	0.0296429253467967	0.01935	T	0.620638	0.23835	T	0.1320763	0.30765	0.14924471	0.35246	0.1320763	0.30765	0.14924471	0.35246	-4.086	0.25083	T	.	.	0.111	0.21503	B	.	.	3.479220	0.48577	22.6	0.99117563973487954	0.52906	0.75778	0.37120	D	AEFDBI	0.402485	0.47655	N	0.0779929302952618	0.45437	2.800282	0.266265302954435	0.53580	3.526248	0.995349558969859	0.34076	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.455000	0.52757	6.669000	0.56273	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.418	0.74711	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.037879	0.02632	2094.33	41	chr3	187199976	.	G	T	2094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=886;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=1.02;SOR=0.752	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr3	187235841	187235841	C	T	exonic	MASP1	.	nonsynonymous SNV	MASP1:NM_139125:exon11:c.G2030A:p.R677H	3MC syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0319820869359	.	.	8.243e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs768033628	8.209e-06	8.209e-06	2.722e-06	1.375e-05	5.797e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	3.597e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.166	0.30926	T	0.024	0.19075	B	0.019	0.18783	B	0.255922	0.15412	N	0.657841	0.951633	0.81001	D	.	.	.	-3.31	0.93835	D	-2.01	0.46337	N	0.201	0.22228	-0.5646	0.66227	T	0.630	0.87005	D	10	0.22566846	0.39402	T	0.031982	0.53925	D	0.325	0.64725	.	.	0.870287601984	0.86902	0.382936870300514	0.38208	0.150861580423	0.17018	0.240948051214	0.02876	T	.	.	.	-0.232761	0.16284	T	-0.390594	0.34481	T	0.157156556844711	0.17658	T	0.738226	0.35986	T	.	.	.	.	.	.	.	.	-6.042	0.46629	T	.	.	0.068	0.02670	B	.;.	.;.	1.448966	0.18694	13.88	0.956966860584476	0.27582	0.66716	0.33175	D	AEFBHCI	0.443694	0.50090	N	-0.694703646745514	0.16171	0.8215659	-0.662000777287876	0.17914	0.9546846	0.999662674558037	0.41534	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	-4.41	0.03339	0.581000	0.23520	-0.161000	0.11322	-0.182000	0.10109	0.996000	0.39380	0.459000	0.24993	0.966000	0.53164	0.1006:0.4663:0.0989:0.3342	3.661	0.07776	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2457.33	42	chr3	187235841	.	C	T	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.635;DP=832;ExcessHet=0;FS=4.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.536;SOR=0.84	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1301	18	0	1	0
chr3	187371162	187371162	T	C	exonic	RTP4	.	nonsynonymous SNV	RTP4:NM_022147:exon2:c.T530C:p.L177P	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00125541594854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.258	0.23164	T	0.0	0.02946	B	0.0	0.01387	B	0.594540	0.05611	N	1.261530	1	0.08975	N	-0.805	0.01590	N	2.21	0.18414	T	2.28	0.00297	N	0.028	0.00618	-0.9868	0.33396	T	0.018	0.07470	T	10	0.041783452	0.02866	T	0.001255	0.01683	T	0.024	0.04979	0.281	0.23642	0.350746614512	0.34690	0.13007177215283655	0.12932	0.210956148774	0.23596	0.205325752497	0.00628	T	3.72E-4	0.00113	T	-0.415104	0.01839	T	-0.834045	0.01193	T	0.0407987851446347	0.03836	T	0.243476	0.03544	T	0.036886673	0.04625	0.048585877	0.07247	0.036886673	0.04625	0.048585877	0.07247	-3.1	0.11296	T	.	.	0.049	0.00109	B	.	.	-0.406823	0.02188	0.216	0.7051997829509562	0.09322	0.00022	0.00232	N	AEFBI	0.013731	0.00193	N	-1.24189611320571	0.04407	0.1988446	-1.21732530604623	0.05631	0.2688526	0.991684467508957	0.32573	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.22	1.37	0.21200	-0.225000	0.09156	-1.442000	0.05430	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1992:0.5887:0.0:0.2121	3.502	0.07237	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1835.33	134	chr3	187371162	.	T	C	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.391;DP=1619;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.039;SOR=0.606	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr3	188609231	188609231	C	T	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon5:c.C500T:p.P167L,LPP:NM_001375465:exon5:c.C500T:p.P167L,LPP:NM_001375455:exon6:c.C500T:p.P167L,LPP:NM_001375456:exon6:c.C500T:p.P167L,LPP:NM_001375458:exon6:c.C500T:p.P167L,LPP:NM_001375459:exon6:c.C500T:p.P167L,LPP:NM_001375461:exon6:c.C500T:p.P167L,LPP:NM_001375463:exon6:c.C500T:p.P167L,LPP:NM_005578:exon6:c.C500T:p.P167L,LPP:NM_001167671:exon7:c.C500T:p.P167L,LPP:NM_001375457:exon7:c.C500T:p.P167L,LPP:NM_001375460:exon7:c.C500T:p.P167L,LPP:NM_001375462:exon7:c.C500T:p.P167L,LPP:NM_001375464:exon7:c.C500T:p.P167L	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	0	1521	1	0	0	1	0.000328623	.	.	.	708727	LPP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	0.0756852701419	0.0021	0.000399361	0.0023	0.0004	0.0007	0.0001	0.0015	0.0038	0.0022	0.0001	0.0022057	341	154602	rs149437411	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0032	0.0031	0.0006	0.0009	7.652e-05	5.038e-05	0.0016	0.0005	0.0032	0.0018	0.0003	0.0016	0.0016	0.0016	0.0017	0.0030	0.0015	0.0014	0.0026	0.0025	0.0005	0.0033	0.0007	0.0003	0.0006	0.0009	0	0.0030	0.0005	0.0002	0.008	0.91255	D	0.009	0.72224	D	1.0	0.90584	D	0.969	0.72001	D	0.000001	0.62929	D	0.100947	1	0.81001	D	2.215	0.62545	M	1.69	0.42122	T	-4.23	0.87143	D	0.769	0.76666	-0.5510	0.66749	T	0.364	0.72476	T	10	0.0121845305	0.00263	T	0.075685	0.72348	D	0.279	0.59619	.	.	0.35158688536	0.34763	0.49882407759614367	0.49803	.	.	0.76735919714	0.77029	T	0.098351	0.81674	T	-0.195214	0.21496	T	-0.0530589	0.66813	D	0.0583990158018796	0.06915	T	0.942806	0.78939	D	0.15938053	0.35806	0.16861488	0.38834	0.17074548	0.37667	0.17206265	0.39432	-6.198	0.47907	T	.	.	0.805	0.84099	P	.;.;.;.;.	.;.;.;.;.	5.231409	0.87810	29.4	0.99829687965029434	0.91198	0.98565	0.84156	D	AEFBI	0.773901	0.70777	D	0.769266537345632	0.84153	8.208993	0.778132328304941	0.88236	9.506681	0.999999999999993	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.047000	0.76316	7.719000	0.67224	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.126	0.93369	787	0.46738	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2713.33	69	chr3	188609231	.	C	T	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1246;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.972;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr3	189880135	189880135	T	C	exonic	TP63	.	nonsynonymous SNV	TP63:NM_001114982:exon9:c.T1139C:p.F380S,TP63:NM_001114979:exon11:c.T1421C:p.F474S	ADULT syndrome, Autosomal dominant;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Autosomal dominant;Hay-Wells syndrome, Autosomal dominant;Limb-mammary syndrome, Autosomal dominant;Orofacial cleft 8, Autosomal dominant;Rapp-Hodgkin syndrome, Autosomal dominant;Split-hand/foot malformation 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.614563823495	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs777582372	5.61e-05	5.609e-05	4.493e-05	6.739e-05	0.0005	4.61e-05	4.237e-05	0.0004	0.0003	2.987e-05	0	0	0	0	0.0002	3.058e-05	8.283e-05	0.0005	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.073	0.36709	T	1.0	0.02617	T	0.093	0.25333	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	-6.33	0.99669	D	1.49	0.00846	N	0.361	0.40264	1.135	0.99931	D	0.948	0.98287	D	7	0.17121643	0.31828	T	0.614564	0.96645	D	0.488	0.77592	0.257	0.19845	0.742007462506	0.73969	.	.	.	.	.	.	.	.	.	.	-0.080352	0.39657	T	-0.0370406	0.67900	D	0.0573405274608238	0.06744	T	0.475352	0.14216	T	.	.	.	.	.	.	.	.	-2.343	0.04795	T	.	.	0.091	0.14247	B	.;.	.;.	2.727431	0.35692	19.96	0.96559524292004129	0.30254	0.91909	0.54526	D	AEFGBI	0.342926	0.43891	N	-0.132574315799895	0.35978	2.073592	0.0254030653532759	0.40898	2.448203	0.925719556989949	0.26825	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.79	4.6	0.56512	2.185000	0.42215	4.989000	0.46514	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1355:0.0:0.0:0.8645	11.395	0.49077	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr3	189880135	.	T	C	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=701;ExcessHet=0;FS=4.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.009;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H,P3H2:NM_018192:exon2:c.G555T:p.Q185H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	1	1507	14	0	0	14	0.00462351	.	.	YES	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.005848	0.000000	0.017241	0.003049	0.003788	0.02632	1358.33	33	chr3	189995368	.	C	A	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.96;DP=719;ExcessHet=0;FS=3.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.458;SOR=0.949	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1402	18	0	1	0
chr3	190440295	190440296	GA	-	exonic	TMEM207	.	frameshift deletion	TMEM207:NM_207316:exon4:c.252_253del:p.H85Qfs*36	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0002	0	0.0003	0	0	3.011e-05	0	0.0009	0.0001617	25	154602	rs546277645	0.0001	0.0001	7.623e-05	0.0001	0.0009	9.266e-05	8.731e-05	0.0007	0.0007	5.974e-05	0.0003	0	0	0	0.0005	3.597e-05	0.0003	0.0009	0.0001	0.0001	8.999e-05	0.0002	0.0010	9.745e-05	8.259e-05	0.0005	0.0004	0	0	0.0009	0	0	0	0	5.882e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1753.29	34	chr3	190440294	.	TGA	T	1753.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,930	18	0	1	0
chr3	191380871	191380871	A	G	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_174908:exon8:c.A653G:p.K218R,CCDC50:NM_178335:exon9:c.A1181G:p.K394R	.	1	1468	50	3	0	56	0.0187166	.	.	.	173908	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0035	0.00499201	0.0065	0.0011	0.0016	0	0.0002	0.0050	0.0101	0.0252	0.0061901	957	154602	rs114502673	0.0065	0.0065	0.0057	0.0073	0.0258	0.0064	0.0063	0.0249	0.0245	0.0007	0.0016	0.0058	0.0001	0.0004	0.0106	0.0059	0.0065	0.0258	0.0038	0.0039	0.0040	0.0037	0.0230	0.0036	0.0035	0.0195	0.0182	0.0009	0.0066	0.0018	0.0049	0	9.413e-05	0.0068	0.0056	0.0038	0.0230	.	.	.	.	.	.	0.705	0.41986	P	0.439	0.45685	B	0.000050	0.53742	D	0.132805	0.653512	0.30512	N	2.225	0.63025	M	.	.	.	.	.	.	.	.	-1.0102	0.26854	T	0.096	0.36159	T	10	0.006295413	0.00142	T	.	.	.	0.092	0.26621	.	.	0.394837016283	0.39092	0.018683176227404726	0.01822	0.45893775672	0.45492	0.605645656586	0.53701	T	0.005	0.04113	T	-0.427499	0.01535	T	-0.368595	0.37053	T	0.0189041882867734	0.00600	T	0.80202	0.45053	T	0.11414416	0.26949	0.0980237	0.23354	0.11414416	0.26949	0.0980237	0.23354	-7.596	0.58283	D	0.12031312152752395	0.11301	0.088	0.11654	B	.;.	.;.	3.501968	0.48999	22.7	0.99859256809670549	0.93820	0.91605	0.53878	D	AEFBI	0.620857	0.60576	D	0.0902555239688302	0.46009	2.84803	0.217124440906525	0.50797	3.268055	0.999999986345712	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.090000	0.49888	5.306000	0.48250	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.366	0.54558	971	0.05719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.005435	0.002941	0.000000	0.008621	0.009146	0.018939	0.02632	731.33	39	chr3	191380871	.	A	G	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=698;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.255;SOR=1.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr3	193270625	193270625	G	A	exonic	PLAAT1	.	nonsynonymous SNV	PLAAT1:NM_020386:exon4:c.G427A:p.V143I,PLAAT1:NM_001366112:exon5:c.G427A:p.V143I	.	.	.	.	.	.	.	.	.	.	.	3376135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00473275536475	0.0003	0.000199681	3.297e-05	0.0003	0	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs147242865	6.57e-05	6.567e-05	6.809e-05	6.328e-05	0.0002	5.497e-05	5.109e-05	9.753e-05	6.953e-05	0.0002	2.237e-05	0	2.52e-05	5.619e-05	0.0002	6.568e-05	0.0001	3.481e-05	9.851e-05	9.843e-05	0.0001	6.715e-05	0.0003	6.003e-05	4.877e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	4.411e-05	0	0.0002	.	.	.	0.333	0.18395	T	.	.	.	.	.	.	0.000000	0.84330	N	0.052987	0.99752	0.22627	N	.	.	.	0.83	0.47815	T	.	.	.	0.07	0.04307	-0.9849	0.33856	T	0.020	0.08453	T	9	0.021992981	0.00539	T	0.004733	0.11784	T	0.135	0.36572	.	.	0.0401082797425	0.02173	.	.	0.150424504173	0.16965	0.237670361996	0.02584	T	.	.	.	-0.503005	0.00550	T	-0.654331	0.08653	T	0.0522275529801846	0.05885	T	0.632437	0.24680	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.301663	0.17036	12.92	0.78644034708307187	0.12390	0.18414	0.20250	N	AEFDI	0.033565	0.04007	N	-0.868620849384523	0.11594	0.5603816	-0.621088340906734	0.18951	1.01471	8.36505298874182E-6	0.01202	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.64	1.86	0.24489	1.865000	0.39117	0.915000	0.22659	-0.116000	0.14526	1.000000	0.71638	0.980000	0.30356	0.986000	0.61781	0.6456:0.1421:0.0762:0.1361	3.356	0.06752	633	0.64743	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1347.33	33	chr3	193270625	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.631;DP=745;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.691;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1384	18	0	1	0
chr3	193335076	193335076	T	C	exonic	ATP13A5	.	nonsynonymous SNV	ATP13A5:NM_198505:exon10:c.A967G:p.T323A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.037069094625	.	0.000399361	0.0001	0	0	0	0	1.5e-05	0	0.0010	0.0001294	20	154602	rs566822422	8.416e-05	8.414e-05	6.127e-05	0.0001	0.0009	7.205e-05	6.652e-05	0.0008	0.0007	0	0	0	0	0	0.0002	2.609e-05	0.0002	0.0009	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.021	0.49117	D	0.018	0.59732	D	0.014	0.16867	B	0.073	0.28123	B	0.000022	0.55875	D	0.074445	0.993991	0.42123	D	1.775	0.45938	L	-2.77	0.90904	D	-4.05	0.74504	D	0.401	0.44187	0.052	0.83279	D	0.653	0.87931	D	10	0.045642614	0.03660	T	0.037069	0.57386	D	0.351	0.67234	0.4	0.42917	0.594367484798	0.59114	0.42871717333102566	0.42788	0.104487865406	0.11823	0.4285145998	0.29005	T	0.262609	0.63420	T	-0.220537	0.17920	T	-0.140004	0.60118	T	0.133136137312446	0.15669	T	0.753825	0.37593	T	0.2531723	0.48337	0.26259074	0.52053	0.2531723	0.48337	0.26259074	0.52052	-8.522	0.64575	D	.	.	0.095	0.14933	B	.	.	3.319698	0.45653	22.2	0.98668470631320726	0.44442	0.96137	0.67702	D	AEFGBI	0.476462	0.51987	N	-0.178366987760621	0.34036	1.937968	-0.0210266282040865	0.38766	2.288728	0.137603735155808	0.17211	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.11	4.96	0.65153	3.804000	0.55272	3.506000	0.38809	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0718:0.0:0.9282	11.181	0.47856	451	0.79296	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1360.33	37	chr3	193335076	.	T	C	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=737;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-2.11;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr3	193448239	193448239	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon18:c.A2119G:p.I707V	.	419	1082	21	0	0	21	0.00961098	.	.	.	3199835	ATP13A4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0011	0.00798722	0.0053	0.0002	0.0016	0.0001	0	0.0015	0.0044	0.0316	0.0047541	735	154602	rs139578706	0.0028	0.0028	0.0020	0.0036	0.0284	0.0027	0.0027	0.0275	0.0271	0.0001	0.0015	0.0009	7.557e-05	0	0.0173	0.0011	0.0030	0.0284	0.0020	0.0020	0.0016	0.0025	0.0340	0.0019	0.0018	0.0297	0.0281	0.0001	0	0.0024	0.0006	0.0002	0	0.0204	0.0013	0.0024	0.0340	0.311	0.14064	T	0.311	0.19660	T	0.027	0.19556	B	0.038	0.23361	B	0.004371	0.33816	N	0.249276	0.96754	0.25844	N	0.965	0.23975	L	-0.25	0.67011	T	0.01	0.06868	N	0.326	0.37509	-0.9742	0.36301	T	0.092	0.34983	T	10	0.0068852603	0.00156	T	.	.	.	0.051	0.14325	.	.	0.630113592811	0.62709	0.14474421721900954	0.14397	0.137857802033	0.15542	0.44773003459	0.31633	T	0.306865	0.67905	T	-0.496828	0.00596	T	-0.464806	0.26078	T	0.0173163278083805	0.00471	T	0.375062	0.09032	T	0.12286591	0.28863	0.09017917	0.21131	0.12286591	0.28863	0.09017917	0.21131	-7.554	0.57989	D	.	.	0.073	0.04681	B	.;.	.;.	2.349307	0.30116	18.34	0.97513264720364456	0.34363	0.91546	0.53756	D	AEFBI	0.421381	0.48782	N	-0.202024640915687	0.33050	1.870798	-0.00907672235147589	0.39303	2.328322	0.507512550410884	0.20993	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.84	4.84	0.62125	2.637000	0.46219	1.888000	0.29498	0.665000	0.62972	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.540	0.61128	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.008152	0.017544	0.000000	0.017241	0.006098	0.018939	0.05263	1879.83	38	chr3	193448239	.	T	C	1879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.048;DP=817;ExcessHet=0.119;FS=1.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=1.31;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr3	193491351	193491351	A	G	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon6:c.T581C:p.I194T	.	425	1090	7	0	0	7	0.00320073	.	.	.	2221503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.765	0.112315977974	0.0002	0.000998403	0.0003	0	0.0006	0	0	0.0004	0.0011	0.0005	0.0003234	50	154602	rs181256207	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0027	0.0023	0.0001	0.0005	0.0002	0	0	0.0040	0.0002	0.0005	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.405e-05	0	0.0004	0.0003	0	0	0	0.0002	0.0014	0.0002	0.003	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.981	0.75168	D	0.000284	0.46274	D	0.092754	0.998681	0.45275	D	1.455	0.36767	L	-2.46	0.88924	D	-3.72	0.73893	D	0.694	0.70790	0.459	0.89969	D	0.755	0.91637	D	10	0.30752397	0.48254	T	0.112316	0.79042	D	0.765	0.92046	.	.	0.836976481537	0.83542	0.7168744031805802	0.71630	0.51541283519	0.49451	0.636393368244	0.58052	T	0.079068	0.55367	T	-0.0020792	0.51368	T	0.138732	0.79462	D	0.116427307145898	0.14077	T	0.834417	0.50357	T	0.5770476	0.71447	0.6349355	0.78690	0.5770476	0.71448	0.6349355	0.78690	-6.986	0.58799	T	.	.	0.374	0.61088	A	.;.;.	.;.;.	4.566939	0.72014	25.8	0.99852582952964841	0.93191	0.97183	0.73178	D	AEFBI	0.582393	0.58203	D	0.643394905218938	0.75943	6.395983	0.657112627506573	0.79140	7.02017	0.973810322345497	0.29488	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.259000	0.77791	11.100000	0.86102	0.691000	0.84096	0.993000	0.37899	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	14.996	0.71084	929	0.16858	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.000000	0.02632	1276.33	51	chr3	193491351	.	A	G	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=740;ExcessHet=0;FS=3.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.739;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1381	18	0	1	0
chr3	193617246	193617246	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_015560:exon4:c.G517A:p.V173I,OPA1:NM_130834:exon4:c.G517A:p.V173I,OPA1:NM_130836:exon4:c.G517A:p.V173I,OPA1:NM_130837:exon4:c.G517A:p.V173I,OPA1:NM_001354664:exon5:c.G145A:p.V49I	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1179680	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	0.0282287598621	.	.	8.259e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs778997114	6.778e-05	6.841e-05	3.406e-05	0.0001	0.0011	5.674e-05	5.264e-05	0.0009	0.0008	0	0	0	0	0	0.0002	5.4e-06	0	0.0011	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.328	0.20683	T	0.51	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	0.236583	0.15804	N	0.637066	1	0.08975	N	0.55	0.14455	N	-3.11	0.92721	D	-0.39	0.25118	N	0.085	0.06854	-0.5389	0.67205	T	0.485	0.80345	T	10	0.0414702	0.02805	T	0.028229	0.50935	D	0.165	0.42395	0.24	0.17218	0.297458270211	0.29361	0.2512277634630935	0.25036	0.0788483161384	0.08873	0.269982248545	0.06138	T	0.137359	0.47026	T	-0.305413	0.08158	T	-0.296986	0.45041	T	0.0210772636565094	0.00809	T	0.836716	0.52772	T	0.022386769	0.00897	0.039858334	0.04177	0.022386769	0.00897	0.039858334	0.04176	-3.825	0.23038	T	0.10101912013938462	0.07518	0.078	0.10642	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.433729	0.31314	18.70	0.63932168953544311	0.07356	0.83901	0.42992	D	AEFBI	0.098833	0.19908	N	-0.431400994496139	0.24375	1.315699	-0.243650457174743	0.29990	1.684812	0.0980645289322579	0.16295	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	2.01	0.25568	2.557000	0.45533	0.577000	0.19666	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	1.000000	0.97212	0.3381:0.0:0.6619:0.0	10.382	0.43302	925	0.17918	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	967.33	33	chr3	193617246	.	G	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.147;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.928;SOR=0.738	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr3	194341081	194341081	C	A	exonic	CPN2	.	nonsynonymous SNV	CPN2:NM_001080513:exon2:c.G1622T:p.R541L,CPN2:NM_001291988:exon2:c.G1622T:p.R541L	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00681108974781	0.0015	0.00179712	0.0019	0.0005	0.0025	0	0.0002	0.0019	0.0054	0.0046	0.0015459	239	154602	rs150510546	0.0013	0.0013	0.0011	0.0014	0.0121	0.0012	0.0012	0.0097	0.0088	0.0005	0.0018	0.0004	0	0.0001	0.0121	0.0011	0.0018	0.0040	0.0011	0.0010	0.0010	0.0011	0.0050	0.0009	0.0009	0.0034	0.0029	0.0001	0	0.0015	0.0006	0	0	0.0068	0.0014	0.0033	0.0050	0.276	0.15717	T	0.254	0.23433	T	0.001	0.07471	B	0.001	0.04355	B	0.298552	0.03939	N	1.739800	1	0.08975	N	0.345	0.11182	N	0.56	0.54540	T	0.96	0.01488	N	0.092	0.07125	-1.0525	0.13709	T	0.062	0.25780	T	10	0.0036023557	0.00065	T	0.006811	0.18010	T	0.063	0.18251	.	.	0.388653054685	0.38476	0.3873093252239935	0.38645	0.225813559586	0.25129	0.217184200883	0.01154	T	0.133804	0.46469	T	-0.630927	0.00094	T	-0.681481	0.06894	T	0.0484604067682386	0.05227	T	0.39926	0.10144	T	0.040326152	0.05735	0.06738721	0.13933	0.040326152	0.05735	0.06738721	0.13933	-3.187	0.12322	T	.	.	0.081	0.09917	B	.;.	.;.	-1.873188	0.00134	0.002	0.71189580806832742	0.09545	0.01507	0.04986	N	AEFBI	0.185067	0.31239	N	-2.19234984836467	0.00080	0.003417943	-2.30214911587398	0.00066	0.002882801	0.999999999999937	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.7	-11.4	0.00070	-5.139000	0.00174	-11.910000	0.00565	-1.399000	0.01142	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5269:0.0872:0.0625:0.3235	5.067	0.13925	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.015152	0.009511	0.008772	0.050000	0.034483	0.009146	0.003788	0.05263	1249.83	35	chr3	194341081	.	C	A	1249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.28;DP=736;ExcessHet=0.119;FS=2.302;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.4;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1330	17	0	2	0
chr3	194360829	194360829	G	A	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.C215T:p.P72L,LRRC15:NM_001135057:exon3:c.C233T:p.P78L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0334649822104	7.7e-05	0.000199681	4.148e-05	0	0	0	0	6.014e-05	0	6.252e-05	3.88e-05	6	154602	rs141605466	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0002	1.456e-05	1.264e-05	1.377e-05	1.15e-05	2.987e-05	0	0	0	0	0.0002	2.068e-05	4.968e-05	2.319e-05	2.626e-05	2.625e-05	2.57e-05	2.685e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.447	0.10311	T	0.174	0.31527	T	0.001	0.09854	B	0.002	0.06944	B	0.074035	0.21309	N	0.473995	1	0.08975	N	-0.87	0.01450	N	-2.45	0.88847	D	-1.39	0.34397	N	0.097	0.08925	-0.7002	0.60429	T	0.345	0.70980	T	10	0.056767255	0.06415	T	0.033465	0.55002	D	0.039	0.10176	.	.	0.84128526366	0.83977	0.6602962595694574	0.65966	.	.	0.352670311928	0.18315	T	0.069383	0.33696	T	-0.180404	0.23675	T	-0.389258	0.34638	T	0.0208546632978887	0.00786	T	0.725627	0.33984	T	0.032405272	0.03259	0.047831845	0.06976	0.032405272	0.03258	0.047831845	0.06976	-3.369	0.15987	T	.	.	0.232	0.46505	B	.;.	.;.	2.090331	0.26594	17.17	0.83646211833842465	0.14841	0.09771	0.15451	N	AEFBI	0.050423	0.08812	N	-0.726130930543051	0.15290	0.7692529	-0.594397708834087	0.19638	1.054563	0.659491213429237	0.22254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.04	3.22	0.36041	2.846000	0.47962	7.536000	0.59999	0.676000	0.76740	0.211000	0.24435	1.000000	0.68203	0.907000	0.44265	0.0717:0.0:0.7917:0.1366	10.255	0.42569	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1449.33	104	chr3	194360829	.	G	A	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=1092;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.166;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	18	0	1	0
chr3	194397532	194397532	T	C	exonic	GP5	.	nonsynonymous SNV	GP5:NM_004488:exon2:c.A751G:p.R251G	.	.	.	.	.	.	.	.	.	.	.	4148885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00857974822764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.499	0.11227	T	0.001	0.07471	B	0.004	0.10090	B	0.359241	0.13696	N	0.600559	1	0.08975	N	-0.275	0.03743	N	0.65	0.52642	T	-1.91	0.44471	N	0.051	0.02272	-1.0062	0.28095	T	0.036	0.15509	T	10	0.10751355	0.19974	T	0.00858	0.22680	T	0.074	0.21613	0.476	0.55342	0.236278675362	0.23226	0.50581910209385	0.50503	.	.	0.278910309076	0.07341	T	0.105022	0.41511	T	-0.322255	0.06715	T	-0.700674	0.05789	T	0.0414046235382557	0.03945	T	0.346465	0.07620	T	0.09092085	0.21290	0.06984897	0.14767	0.09092085	0.21290	0.06984897	0.14767	-5.795	0.44531	T	.	.	0.095	0.15070	B	.	.	1.008695	0.13873	10.43	0.76525760487096361	0.11503	0.17004	0.19646	N	AEFDBIJ	0.207866	0.33399	N	-1.31160391994464	0.03542	0.1583767	-1.29520453436861	0.04495	0.212151	0.99994864832686	0.47345	0.764865	0.99124	0	0.628146	0.54582	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.06	-1.16	0.09181	0.058000	0.14178	-0.725000	0.07688	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2582:0.1464:0.5954	5.061	0.13896	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	61	chr3	194397532	.	T	C	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.237;DP=929;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.431;SOR=0.619	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	18	0	1	0
chr3	194617104	194617104	G	C	exonic	TMEM44	.	nonsynonymous SNV	TMEM44:NM_001011655:exon6:c.C778G:p.L260V,TMEM44:NM_001166306:exon6:c.C778G:p.L260V,TMEM44:NM_138399:exon6:c.C778G:p.L260V,TMEM44:NM_001166305:exon7:c.C919G:p.L307V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0003	0.00419329	0.0096	0.0004	0.0022	0	0	0.0003	0.0091	0.0496	0.0015524	240	154602	rs149267668	0.0012	0.0013	0.0007	0.0017	0.0184	0.0012	0.0011	0.0176	0.0173	6.408e-05	9.105e-05	0	2.786e-05	0	0.0007	0.0002	0.0013	0.0184	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0001	0	0	0	0	5.881e-05	0.0005	0.0207	0.153	0.24372	T	0.111	0.37173	T	0.096	0.25489	B	0.103	0.30945	B	0.000276	0.46590	D	0.000000	0.75692	0.33993	D	1.34	0.33385	L	1.03	0.40469	T	-1.21	0.39119	N	0.121	0.27197	-1.0309	0.20163	T	0.078	0.31224	T	10	0.005316913	0.00117	T	.	.	.	0.037	0.09474	.	.	0.0846915920261	0.08053	0.2164425022267074	0.21560	0.156764246655	0.17697	0.478634595871	0.35869	T	0.003862	0.21780	T	-0.51579	0.00465	T	-0.498736	0.22479	T	0.0207705687942124	0.00777	T	0.654634	0.28809	T	0.11683522	0.27551	0.0691593	0.14534	0.11683522	0.27551	0.0691593	0.14534	-5.448	0.51908	T	.	.	0.192	0.41125	B	.;.;.;.;.	.;.;.;.;.	2.057945	0.26162	17.02	0.93008608150202865	0.22601	0.38953	0.26104	N	AEFDBI	0.085837	0.17403	N	-0.37070691152692	0.26517	1.447868	-0.276241546557587	0.28883	1.613864	0.446392230801974	0.20500	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	2.18	0.26813	0.378000	0.20298	6.060000	0.53164	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.814000	0.38357	0.0963:0.1766:0.5443:0.1828	3.163	0.06135	967	0.07127	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002583	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.02632	603.33	36	chr3	194617104	.	G	C	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=1048;ExcessHet=0;FS=5.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.473;SOR=0.255	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr3	194659010	194659010	C	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon7:c.G706T:p.V236F	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.0857110456141	.	.	0.0002	0	0	0	0	2.999e-05	0	0.0016	0.0002005	31	154602	rs200655440	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0019	0.0018	0	0	0	0	1.872e-05	0.0019	4.946e-05	0.0002	0.0022	7.877e-05	7.874e-05	3.854e-05	0.0001	0.0014	4.492e-05	3.509e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0014	0.003	0.68238	D	0.118	0.36233	T	0.969	0.56768	D	0.881	0.62579	P	0.000010	0.62929	D	0.111723	0.999888	0.50402	D	2.515	0.73286	M	-2.76	0.90848	D	-3.78	0.71519	D	0.732	0.73285	-0.0473	0.81264	T	0.582	0.84973	D	10	0.27880937	0.45451	T	0.085711	0.74588	D	0.656	0.87085	.	.	0.90986826797	0.90896	0.7193633110943062	0.71879	0.15031345319	0.16954	0.357797443867	0.19064	T	0.075844	0.35275	T	-0.0888954	0.38259	T	0.0927472	0.76428	D	0.202415533777771	0.20548	T	0.922208	0.71716	D	0.51328915	0.67872	0.38783762	0.63642	0.51328915	0.67873	0.38783762	0.63642	-8.273	0.62915	D	.	.	0.282	0.51515	B	.	.	3.921894	0.57260	23.8	0.99242888153015285	0.56597	0.95598	0.65363	D	AEFDBCI	0.655663	0.62792	D	0.225134556465787	0.52421	3.416242	0.293555605980121	0.55163	3.679576	0.999999876113343	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	6.17	3.37	0.37692	4.756000	0.61902	1.745000	0.28430	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.7884:0.0:0.2116	10.527	0.44142	932	0.16191	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1235.33	41	chr3	194659010	.	C	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=795;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.79;SOR=0.524	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1376	18	0	1	0
chr3	195519067	195519067	C	T	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.G444A:p.M148I,PPP1R2:NM_001291504:exon5:c.G525A:p.M175I,PPP1R2:NM_006241:exon5:c.G522A:p.M174I,PPP1R2:NM_001316325:exon6:c.G462A:p.M154I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0119141706426	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs750466168	1.031e-05	1.026e-05	1.232e-05	8.289e-06	1.356e-05	6.19e-06	4.91e-06	8.14e-06	6.46e-06	0	0	0	0	0	0	1.356e-05	0	0	6.57e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.037	0.43085	D	0.1	0.38742	T	0.963	0.55692	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.85	0.49092	L	.	.	.	-1.76	0.41618	N	0.512	0.54322	-0.2207	0.77133	T	0.448	0.78336	T	9	0.30541712	0.48059	T	0.011914	0.29998	T	0.243	0.54921	0.286	0.24440	0.586694575381	0.58343	0.19270543897747536	0.19188	.	.	0.546733617783	0.45396	T	0.11888	0.44001	T	0.038619	0.56864	T	-0.182303	0.56309	T	0.638266205787659	0.37964	D	0.761924	0.38711	T	0.43053976	0.62787	0.3439525	0.60099	0.43053976	0.62788	0.3439525	0.60098	-3.671	0.18891	T	.	.	0.403	0.59716	A	.;.	.;.	3.260811	0.44598	22.0	0.98161923589725963	0.38781	0.98364	0.82028	D	AEFGBI	0.616247	0.60288	D	0.731932961389334	0.81726	7.590106	0.703213923354502	0.82624	7.812964	0.98695895552645	0.31157	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	6.295000	0.72726	7.566000	0.60594	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.936	0.86073	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	57.33	78	chr3	195519067	.	C	T	57.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.592;DP=1237;ExcessHet=0;FS=68.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.31;MQRankSum=-1.581;QD=0.47;ReadPosRankSum=0.885;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1458:.	18	0	1	0
chr3	195519068	195519068	A	G	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.T443C:p.M148T,PPP1R2:NM_001291504:exon5:c.T524C:p.M175T,PPP1R2:NM_006241:exon5:c.T521C:p.M174T,PPP1R2:NM_001316325:exon6:c.T461C:p.M154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0133850550382	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs758930365	1.394e-06	2.741e-06	0	2.796e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.16793	T	1.0	0.01155	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.545	0.74286	M	.	.	.	-1.14	0.29323	N	0.675	0.68255	-0.3584	0.73310	T	0.406	0.75557	T	9	0.33047637	0.50285	T	0.013385	0.32738	T	0.225	0.52323	0.282	0.23801	0.63470690541	0.63171	0.316806076815987	0.31593	.	.	0.631590008736	0.57371	T	0.166075	0.51217	T	0.0330966	0.56136	T	-0.00808859	0.69810	D	0.4387147128582	0.30382	T	0.646635	0.25786	T	0.24516653	0.47472	0.21074143	0.45473	0.24516653	0.47472	0.21074143	0.45472	-3.2	0.12480	T	.	.	0.342	0.56051	A	.;.	.;.	3.000912	0.40094	21.1	0.87394221429255625	0.17196	0.98867	0.87911	D	AEFGBI	0.803324	0.72850	D	0.637927365369088	0.75590	6.33285	0.617386050681991	0.76201	6.447751	0.809762738365655	0.24334	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.412000	0.79304	11.032000	0.85074	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	13.590	0.61421	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	150.95	78	chr3	195519068	.	A	G	150.95	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.591;DP=1462;ExcessHet=0.7564;FS=117.019;InbreedingCoeff=-0.1348;MLEAC=4;MLEAF=0.111;MQ=56.47;MQRankSum=-1.328;QD=0.37;ReadPosRankSum=0.956;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1458:.	14	0	4	1
chr3	195519078	195519078	C	T	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.G433A:p.D145N,PPP1R2:NM_001291504:exon5:c.G514A:p.D172N,PPP1R2:NM_006241:exon5:c.G511A:p.D171N,PPP1R2:NM_001316325:exon6:c.G451A:p.D151N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00905860885421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	0.179	0.29540	T	0.77	0.43887	P	0.636	0.51948	P	0.000001	0.62929	D	0.054903	1	0.81001	D	2.135	0.59519	M	.	.	.	-1.11	0.28703	N	0.392	0.43320	-0.7119	0.59859	T	0.290	0.66182	T	9	0.29898494	0.47453	T	0.009059	0.23845	T	0.127	0.34888	0.441	0.49648	0.527045900269	0.52351	0.20509771747031716	0.20426	.	.	0.424687385559	0.28481	T	0.108867	0.42226	T	-0.126186	0.32115	T	-0.419034	0.31186	T	0.923710107803345	0.58450	D	0.744526	0.36463	T	0.11809541	0.27830	0.12941259	0.31116	0.11809541	0.27830	0.12941259	0.31116	-6.385	0.49392	T	.	.	0.105	0.19398	B	.;.	.;.	3.559599	0.50079	22.9	0.99845862148642861	0.92576	0.95864	0.66482	D	AEFGBI	0.559613	0.56835	D	0.385958440756816	0.60660	4.257442	0.44069786671966	0.64120	4.660221	0.98695895552645	0.31157	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.568000	0.60573	5.956000	0.51737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0:1.0:0.0:0.0	16.936	0.86073	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	109.85	35	chr3	195519078	.	C	T	109.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.927;DP=1054;ExcessHet=0;FS=202.274;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=56.8;MQRankSum=-1.813;QD=1.11;ReadPosRankSum=1.69;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:24:.:.:0,24,1208:.	18	0	1	0
chr3	195579418	195579418	A	G	exonic	APOD	.	nonsynonymous SNV	APOD:NM_001647:exon2:c.T44C:p.F15S	.	407	1092	23	0	0	23	0.0104214	.	.	.	697996	not_provided|APOD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.191	0.0106765433329	0.0046	0.00139776	0.0042	0.0008	0.0042	0	0.0083	0.0058	0.0056	0.0005	0.0040556	627	154602	rs5952	0.0047	0.0047	0.0048	0.0046	0.0071	0.0046	0.0045	0.0054	0.0051	0.0007	0.0046	0.0007	0	0.0071	0.0071	0.0052	0.0044	0.0007	0.0042	0.0042	0.0040	0.0044	0.0063	0.0039	0.0038	0.0053	0.0051	0.0011	0.0044	0.0063	0.0020	0	0.0068	0.0102	0.0058	0.0066	0.0012	0.004	0.72154	D	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.391946	0.13243	N	0.701798	1	0.08975	N	1.5	0.37844	L	2.03	0.20959	T	-1.66	0.44852	N	0.312	0.35194	-1.0289	0.20811	T	0.027	0.11707	T	10	0.0046077073	0.00096	T	0.010677	0.27493	T	0.191	0.46948	.	.	0.332386209738	0.32853	0.39952335144674217	0.39867	0.231353726995	0.25683	0.335872769356	0.15819	T	0.143503	0.47964	T	-0.392143	0.02606	T	-0.333867	0.41038	T	0.0362776724728635	0.03028	T	0.433257	0.15733	T	0.14031689	0.32379	0.15112346	0.35612	0.14031689	0.32378	0.15112346	0.35611	-4.849	0.35157	T	.	.	0.103	0.26978	B	.;.;.	.;.;.	1.724349	0.21947	15.42	0.96601951292706412	0.30409	0.04721	0.10415	N	AEFDBI	0.089882	0.18217	N	-0.778734682236333	0.13865	0.6862076	-0.791428063803516	0.14705	0.7697434	0.111814176163366	0.16668	0.623552	0.39893	0	0.610034	0.51514	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.68	1.61	0.22752	2.306000	0.43333	5.925000	0.51226	0.756000	0.94297	0.488000	0.26863	1.000000	0.68203	0.014000	0.10232	0.7035:0.0:0.2965:0.0	7.376	0.26004	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	781.33	33	chr3	195579418	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.709;DP=692;ExcessHet=0;FS=0.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.284;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I,MUC20:NM_001291833:exon2:c.G443T:p.S148I,MUC20:NM_020790:exon2:c.G443T:p.S148I,MUC20:NM_152673:exon2:c.G443T:p.S148I	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	70.63	118	chr3	195725046	.	G	T	70.63	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.08;DP=2187;ExcessHet=0.119;FS=79.84;InbreedingCoeff=-0.0722;MLEAC=2;MLEAF=0.056;MQ=37.31;MQRankSum=-3.837;QD=0.18;ReadPosRankSum=-4.28;SOR=6.592	GT:AD:DP:GQ:PL	0/0:169,0:169:12:0,12,4074	16	0	2	1
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	822.88	15	chr3	195725633	.	GCC	G	822.88	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.949;DP=131;ExcessHet=0;FS=14.988;InbreedingCoeff=-0.0889;MLEAC=2;MLEAF=0.091;MQ=33.14;MQRankSum=3.39;QD=21.1;ReadPosRankSum=2.11;SOR=0.014	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	10	0	1	8
chr3	195725634	195725634	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C1031T:p.A344V	.	1184	322	10	4	2	20	0.0271903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0125858967358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352280116	0.0075	0.0019	0.0071	0.0079	0.0191	0.0071	0.0070	0.0166	0.0157	0.0121	0.0024	0.0088	0.0191	0.0083	0.0073	0.0063	0.0087	0.0081	0.0047	0.0010	0	0.0083	.	0	0	.	.	0	0	0	0.2500	0	0	0	0	.	0	0.436	0.17410	T	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.93	0.14408	T	0.08	0.06026	N	0.039	0.04188	-0.9799	0.35025	T	0.027	0.11663	T	4	0.0044902265	0.00092	T	0.012586	0.31297	T	0.053	0.14996	0.12	0.02719	.	.	0.021717678755532547	0.02123	.	.	.	.	.	0.002308	0.09270	T	-0.635626	0.00088	T	-0.679412	0.07019	T	0.00417808576458406	0.00045	T	.	.	.	0.05312774	0.10008	0.09751601	0.23215	0.05312774	0.10008	0.09751601	0.23214	-10.072	0.74342	D	.	.	0.497	0.70345	A	.;.;.	.;.;.	1.040089	0.14208	10.78	0.97137123168121464	0.32525	0.01279	0.04467	N	AEFI	0.056585	0.10471	N	-0.642813956337898	0.17670	0.9112259	-0.84890743290659	0.13314	0.6899907	1.15960121852374E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	1.317000	0.33237	-1.745000	0.04804	0.184000	0.17816	0.052000	0.21487	0.000000	0.08366	0.002000	0.04165	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	762.52	15	chr3	195725634	.	C	T	762.52	.	AC=1;AF=0.038;AN=26;DP=248;ExcessHet=0.1773;FS=13.512;InbreedingCoeff=-0.112;MLEAC=2;MLEAF=0.077;MQ=36.88;QD=10.17;SOR=0.019	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.,.:.:.:.:.:.:.	12	0	1	6
chr3	195725634	195725634	C	0	exonic	MUC20	.	.	.	.	1184	322	10	4	2	20	0.0271903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	762.52	15	chr3	195725634	.	C	*	762.52	.	AC=1;AF=0.038;AN=26;DP=248;ExcessHet=0.1773;FS=13.512;InbreedingCoeff=-0.112;MLEAC=2;MLEAF=0.077;MQ=36.88;QD=10.17;SOR=0.019	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.,.:.:.:.:.:.:.	12	0	1	6
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32,MUC20:NM_001291833:exon4:c.556_632del:p.V186Lfs*23,MUC20:NM_020790:exon4:c.613_689del:p.P205Gfs*24	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	206.94	15	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	206.94	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.07;DP=322;ExcessHet=0;FS=4.945;InbreedingCoeff=0.1072;MLEAC=2;MLEAF=0.083;MQ=35.85;MQRankSum=4.1;QD=5.05;ReadPosRankSum=0.35;SOR=0.2	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	11	0	1	7
chr3	195725660	195725660	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G1057A:p.G353S	.	1007	500	13	0	2	15	0.0128332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0187149916559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182495100	0.0028	0.0008	0.0028	0.0029	0.0088	0.0026	0.0025	0.0073	0.0068	0.0047	0.0008	0.0025	0.0088	0.0019	0.0029	0.0024	0.0035	0.0025	0.0023	0.0014	0.0047	0	0.0082	0.0004	0.0002	.	.	0	0	0.0082	0	0	0	0	0.0023	0	0	0.167	0.25768	T	1.0	0.04947	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.95	0.13673	T	0.02	0.06739	N	0.082	0.05799	-0.9398	0.42648	T	0.013	0.05273	T	4	0.0047961473	0.00101	T	0.018715	0.40875	T	0.015	0.02232	0.117	0.02508	0.0138822411134	0.00435	0.041023980521367506	0.04047	.	.	.	.	.	0.003266	0.09328	T	-0.697398	0.00038	T	-0.768426	0.02820	T	0.00219954852904153	0.00023	T	.	.	.	0.07301397	0.16286	0.10828989	0.26083	0.07301397	0.16286	0.10828989	0.26082	-7.132	0.54991	T	.	.	0.142	0.37024	B	.;.;.	.;.;.	1.179202	0.15696	12.04	0.82410166005133978	0.14177	0.01010	0.03813	N	AEFI	0.062499	0.12017	N	-0.860753912406302	0.11787	0.5707371	-1.08065924404146	0.08081	0.3958111	1.15960121852374E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	0.004000	0.13007	0.512000	0.19089	0.205000	0.17943	0.165000	0.23867	0.001000	0.17328	0.039000	0.14166	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	781.42	21	chr3	195725660	.	G	A	781.42	.	AC=1;AF=0.028;AN=36;DP=457;ExcessHet=0.119;FS=19.155;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.028;MQ=36.09;QD=12.02;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,141:.	17	0	1	1
chr3	195725660	195725660	G	0	exonic	MUC20	.	.	.	.	1007	500	13	0	2	15	0.0128332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	781.42	21	chr3	195725660	.	G	*	781.42	.	AC=1;AF=0.028;AN=36;DP=457;ExcessHet=0.119;FS=19.155;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.028;MQ=36.09;QD=12.02;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,141:.	17	0	1	1
chr3	195725664	195725664	T	C	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.T1061C:p.L354P	.	1209	279	4	0	30	34	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0256055254813	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1380180343	0.0152	0.0017	0.0153	0.0151	0.0420	0.0142	0.0139	0.0355	0.0331	0.0297	0.0137	0.0186	0.0420	0.0129	0.0115	0.0134	0.0205	0.0102	0.0034	0.0052	0.0025	0.0046	0.0060	0.0013	0.0009	.	.	0	0	0.0060	0	0	0.0405	0	0.0012	0	0	0.349	0.15823	T	0.347	0.21947	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0	0.06538	N	2.88	0.14907	T	0.38	0.11366	N	0.019	0.01004	-0.9800	0.35002	T	0.012	0.04558	T	3	0.003928691	0.00075	T	0.025606	0.48570	D	0.056	0.15993	0.344	0.33788	.	.	0.015491436027774854	0.01505	.	.	.	.	.	0.001288	0.04008	T	-0.783148	0.00010	T	-0.830907	0.01246	T	0.00181852192895544	0.00019	T	.	.	.	0.06442869	0.13669	0.16039895	0.37361	0.06442869	0.13668	0.16039895	0.37360	4.303	0.00008	T	.	.	0.036	0.00005	B	.;.;.	.;.;.	0.474922	0.08445	5.202	0.15675441487521538	0.00392	0.00023	0.00238	N	AEFI	0.041883	0.06426	N	-1.57874941594194	0.01374	0.05988492	-1.79679866405169	0.00769	0.034314	2.48845846791929E-4	0.06141	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	-0.966000	0.03935	-0.877000	0.07079	-1.065000	0.01608	0.024000	0.20007	0.000000	0.08366	0.022000	0.11911	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1111.39	29	chr3	195725664	.	T	C	1111.39	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.337;DP=581;ExcessHet=1.7609;FS=9.149;InbreedingCoeff=0.0852;MLEAC=6;MLEAF=1;MQ=36.16;MQRankSum=0.621;QD=11.95;ReadPosRankSum=-0.803;SOR=0.173	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:6,0:6:0:.:.:0,0,0:.	1	0	2	16
chr3	195725664	195725664	T	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1111.39	29	chr3	195725664	.	T	*	1111.39	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.337;DP=581;ExcessHet=1.7609;FS=9.149;InbreedingCoeff=0.0852;MLEAC=3;MLEAF=0.5;MQ=36.16;MQRankSum=0.621;QD=11.95;ReadPosRankSum=-0.803;SOR=0.173	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:6,0:6:0:.:.:0,0,0:.	2	0	1	16
chr3	195725683	195725683	G	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	616.43	35	chr3	195725683	.	G	*	616.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.251;DP=1015;ExcessHet=0.119;FS=12.462;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=38.21;MQRankSum=-1.393;QD=5.66;ReadPosRankSum=6.1;SOR=0.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	18	0	1	0
chr3	195725686	195725686	-	TGGTCCC	exonic	MUC20	.	frameshift insertion	MUC20:NM_001282506:exon2:c.1083_1084insTGGTCCC:p.R362Wfs*46,MUC20:NM_001291833:exon4:c.570_571insTGGTCCC:p.R191Wfs*46,MUC20:NM_020790:exon4:c.627_628insTGGTCCC:p.S210Wfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364976666	5.991e-05	9.133e-05	5.433e-05	6.474e-05	0.0011	3.828e-05	3.183e-05	0.0002	8.487e-05	0	0	9.529e-05	8.052e-05	0.0004	0.0011	1.72e-05	5.623e-05	2.662e-05	5.491e-05	8.747e-05	0.0001	0	0.0001	0	0	.	.	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	601.68	35	chr3	195725686	.	A	ATGGTCCC	601.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.228;DP=1055;ExcessHet=0.1336;FS=14.301;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.042;MQ=38.33;MQRankSum=-1.555;QD=4.89;ReadPosRankSum=5.76;SOR=0.161	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:51,0:51:0:.:.:0,0,98:.	11	0	1	7
chr3	195725686	195725686	A	0	exonic	MUC20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	601.68	35	chr3	195725686	.	A	*	601.68	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.228;DP=1055;ExcessHet=0.1336;FS=14.301;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.042;MQ=38.33;MQRankSum=-1.555;QD=4.89;ReadPosRankSum=5.76;SOR=0.161	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:51,0:51:0:.:.:0,0,98:.	11	0	1	7
chr3	195774204	195774204	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_138297:exon2:c.C184T:p.P62S,MUC4:NM_004532:exon3:c.C337T:p.P113S,MUC4:NM_018406:exon4:c.C13045T:p.P4349S,MUC4:NM_001322468:exon21:c.C10885T:p.P3629S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0504353458662	.	.	2.573e-05	0	0	0.0001	0	1.564e-05	0	6.461e-05	1.94e-05	3	154602	rs760330404	1.579e-05	1.642e-05	8.198e-06	2.346e-05	0.0001	1.052e-05	8.78e-06	7.142e-05	5.495e-05	0	9.052e-05	0	0	0	0	6.308e-06	1.664e-05	0.0001	1.314e-05	1.313e-05	2.569e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.007	0.61437	D	0.012	0.63918	D	1.0	0.90584	D	0.984	0.76113	D	0.005267	0.32945	N	0.138494	0.769642	0.29451	N	.	.	.	0.83	0.58613	T	-6.67	0.92605	D	0.515	0.57690	-0.3570	0.73351	T	0.376	0.73370	T	9	0.30866247	0.48360	T	0.050435	0.64240	D	0.205	0.49236	.	.	0.178374595973	0.17440	0.4696296360153093	0.46881	.	.	0.450902462006	0.32067	T	.	.	.	-0.115521	0.33859	T	-0.221567	0.52587	T	0.406915614618134	0.29202	T	0.878612	0.60417	D	.	.	.	.	.	.	.	.	-7.633	0.58541	D	.	.	0.574	0.77135	P	.;.;.;.	.;.;.;.	3.364311	0.46465	22.3	0.9990056015930725	0.97275	0.86383	0.45652	D	AEFGBI	0.512277	0.54056	D	0.510463571945516	0.67705	5.11767	0.44031705635494	0.64096	4.657286	0.875224398135558	0.25501	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	5.945000	0.69938	9.594000	0.81053	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:1.0:0.0	16.427	0.83656	794	0.45591	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	34	chr3	195774204	.	G	A	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.073;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.224;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,983	18	0	1	0
chr3	195778916	195778920	CGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7584.05	481	chr3	195778916	.	CGTGA	*	7584.05	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=6401;ExcessHet=0.7564;FS=7.501;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=56.4;MQRankSum=-2.52;QD=5.94;ReadPosRankSum=8.35;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:286,0:343:99:0|1:195778916_CGTGA_C:1299,2157,12786:195778916	18	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1333	33235.5	441	chr3	195778917	.	G	*	33235.5	.	AC=4;AF=0.133;AN=30;BaseQRankSum=3.61;DP=6934;ExcessHet=4.595;FS=4.108;InbreedingCoeff=-0.3196;MLEAC=5;MLEAF=0.167;MQ=56.41;MQRankSum=-4.995;QD=9.52;ReadPosRankSum=-0.848;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,57:327:99:0|1:195778917_G_C:3051,0,8993:195778917	11	0	4	4
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	428	1020	58	0	16	74	0.0276454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6646.05	560	chr3	195778921	.	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	6646.05	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=6962;ExcessHet=0.7564;FS=4.353;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=55.9;MQRankSum=-1.209;QD=4.34;ReadPosRankSum=7.62;SOR=1.033	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:397,0:454:99:0|1:195778916_CGTGA_C:965,2157,17456:195778916	18	0	1	0
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	45498.8	626	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	45498.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.89;DP=8901;ExcessHet=4.0818;FS=1.787;InbreedingCoeff=-0.2179;MLEAC=4;MLEAF=0.105;MQ=55.88;MQRankSum=-5.582;QD=8.72;ReadPosRankSum=-2.868;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:463,57:571:99:0|1:195778917_G_C:1618,0,18704:195778917	15	0	4	0
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:308,0:308:0:.:.:0,0,3603:.	9	0	6	4
chr3	195779001	195779001	A	0	exonic	MUC4	.	.	.	.	424	967	14	0	117	131	0.00718686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	171.08	626	chr3	195779001	.	A	*	171.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.189;DP=6930;ExcessHet=1.0667;FS=3.257;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.391;QD=0.07;ReadPosRankSum=-1.285;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:308,0:308:0:.:.:0,0,3603:.	9	0	3	7
chr3	195779003	195779003	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12577G:p.L4193V,MUC4:NM_001322468:exon18:c.C10465G:p.L3489V	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00625251064453	.	.	0.0005	0	0	0	0	0.0011	0	0	7.12e-05	11	154602	rs761201303	2.447e-06	0.0010	3.184e-06	1.673e-06	2.047e-06	6.5e-07	1.8e-07	3.4e-07	1.3e-07	0	0	0	0	3.193e-05	0	2.047e-06	0	0	0.0002	0.0029	0.0002	0.0002	0.0002	0.0001	9.191e-05	0.0001	9.55e-05	7.375e-05	0	0	0.0009	0	0.0002	0	0.0002	0.0005	0.0002	0.196	0.20683	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.22725	N	.	.	.	1.42	0.33842	T	-0.1	0.08495	N	0.024	0.00770	-1.0638	0.10831	T	0.065	0.26913	T	7	0.030462623	0.01173	T	0.006253	0.16406	T	0.054	0.15330	.	.	0.0297737177859	0.01360	0.0020913656908392295	0.00194	.	.	0.507066369057	0.39812	T	.	.	.	-0.388518	0.02750	T	-0.795856	0.02008	T	0.0925729423398809	0.11519	T	0.766023	0.39401	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22609	B	.;.	.;.	1.023270	0.14027	10.60	0.27562330860588846	0.01374	0.00134	0.00826	N	AEFBI	0.057100	0.10609	N	-0.790410142405561	0.13559	0.6688327	-1.01661514034547	0.09420	0.4685524	1.17130386014526E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.194000	0.01328	-3.644000	0.02635	0.148000	0.17689	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	1.0E-4:1.0E-4:0.5468:0.453	3.388	0.06856	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006881	0.027174	0.000000	0.004132	0.050000	0.010204	0.010204	0.000000	0.04167	179.08	626	chr3	195779003	.	G	C	179.08	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=1;MLEAF=0.042;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:308,0:308:0:.:.:0,0,3603:.	11	0	1	7
chr3	195779003	195779003	G	0	exonic	MUC4	.	.	.	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	179.08	626	chr3	195779003	.	G	*	179.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:308,0:308:0:.:.:0,0,3603:.	9	0	3	7
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,51:356:99:0|1:195778916_CGTGA_C:1652,0,11640:195778916	5	1	5	8
chr3	195779084	195779084	C	0	exonic	MUC4	.	.	.	.	640	776	13	4	89	110	0.0133503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	92.25	404	chr3	195779084	.	C	*	92.25	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=5327;ExcessHet=0.5115;FS=0;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.15;MQ=58.15;MQRankSum=-7.181;QD=0.07;ReadPosRankSum=-6.241;SOR=0.728	GT:AD:DP:GQ:PL	./.:286,0:286:0:0,0,2655	8	0	2	9
chr3	195779088	195779135	GGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12445_12492del:p.I4149_T4164del	.	431	1083	6	0	2	8	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.363e-05	0.0003	4.981e-05	3.727e-05	0.0002	3.409e-05	3.114e-05	6.809e-05	4.363e-05	3.557e-05	0	0.0002	0.0002	4.514e-05	0	3.539e-05	0.0001	2.672e-05	0.0015	0.0080	0.0013	0.0016	0.0032	0.0013	0.0012	0.0018	0.0014	0.0009	0.0027	0.0014	0.0018	0.0032	0.0017	0	0.0016	0.0032	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	898.29	388	chr3	195779087	.	CGGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	C	898.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=5325;ExcessHet=0;FS=54.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.81;MQRankSum=-1.823;QD=2.9;ReadPosRankSum=-3.227;SOR=3.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	18	0	1	0
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	925.03	388	chr3	195779136	.	G	*	925.03	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.75;DP=5790;ExcessHet=1.383;FS=4.45;InbreedingCoeff=-0.0826;MLEAC=1;MLEAF=0.029;MQ=48.69;MQRankSum=-3.878;QD=0.55;ReadPosRankSum=-5.297;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	16	0	1	2
chr3	195779162	195779162	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12418T:p.G4140C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00257765613358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-06	3.939e-05	9.277e-06	4.759e-06	0.0003	3.32e-06	2.4e-06	9.5e-07	6.4e-07	0	0	0	0	8.48e-05	0.0003	4.046e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.17	0.37910	T	-1.45	0.35597	N	0.125	0.13911	-1.0616	0.11361	T	0.072	0.29098	T	7	0.122222096	0.23183	T	0.002578	0.05206	T	0.030	0.07022	0.173	0.07894	0.17258766438	0.16869	0.017848761707203956	0.01739	.	.	0.522485077381	0.41976	T	.	.	.	-0.293215	0.09316	T	-0.658959	0.08337	T	0.0762772783696955	0.09504	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.54789	B	.;.	.;.	2.430453	0.31268	18.69	0.82939869376632058	0.14456	0.00204	0.01168	N	AEFBI	0.094831	0.19168	N	-0.780594731283185	0.13815	0.6834163	-1.05113382156332	0.08684	0.4281571	1.15638432658259E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.125000	0.10555	-0.650000	0.08033	0.083000	0.17575	0.209000	0.24412	0.000000	0.08366	0.006000	0.07323	0.0:0.5069:0.0:0.4931	2.664	0.04729	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	310.43	388	chr3	195779162	.	C	A	310.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.642;DP=5788;ExcessHet=0.119;FS=22.886;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=48.82;MQRankSum=1.34;QD=0.83;ReadPosRankSum=3.17;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	18	0	1	0
chr3	195779162	195779162	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	310.43	388	chr3	195779162	.	C	*	310.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.642;DP=5788;ExcessHet=0.119;FS=22.886;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=48.82;MQRankSum=1.34;QD=0.83;ReadPosRankSum=3.17;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	18	0	1	0
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	14308.8	600	chr3	195779166	.	G	*	14308.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.82;DP=6613;ExcessHet=0.0027;FS=30.185;InbreedingCoeff=0.2692;MLEAC=2;MLEAF=0.1;MQ=50.73;MQRankSum=2.08;QD=17.45;ReadPosRankSum=1.67;SOR=0.225	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:397,0:397:0:.:.:0,0,988:.	9	0	1	9
chr3	195779180	195779180	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12400T:p.L4134F	.	431	1031	55	1	4	61	0.0268995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	.	0.00419329	0.0028	0.0449	0.0052	0	0	0	0	0.0001	0.0004528	70	154602	rs376661673	0.0012	0.0024	0.0012	0.0012	0.0218	0.0011	0.0011	0.0200	0.0193	0.0218	0.0020	0.0021	0.0038	0.0015	0.0015	0.0006	0.0018	0.0008	0.0024	0.0086	0.0023	0.0025	0.0086	0.0022	0.0021	0.0077	0.0073	0.0086	0.0013	0.0018	0.0003	0	0.0009	0.0147	0.0003	0.0012	0.0005	0.122	0.31682	T	0.687	0.06090	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-1.42	0.34992	N	0.017	0.02462	-1.0263	0.21658	T	0.029	0.12322	T	8	0.0066381395	0.00150	T	.	.	.	0.114	0.32008	.	.	0.0138822411134	0.00435	0.002251550363716431	0.00209	.	.	0.504269659519	0.39422	T	.	.	.	-0.389721	0.02702	T	-0.797584	0.01964	T	0.00476424314566729	0.00051	T	0.740126	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28174	B	.;.	.;.	1.857231	0.23593	16.08	0.3982221116324855	0.02772	0.00023	0.00238	N	AEFBI	0.032384	0.03648	N	-1.82500070419633	0.00487	0.02095318	-1.9394512879322	0.00408	0.01805407	1.87221308730375E-4	0.05844	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.817000	0.04579	-7.437000	0.01157	-2.483000	0.00269	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2435:0.2547:0.2471:0.2546	0.139	0.00075	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019841	0.012821	0.019900	0.027473	0.000000	0.058824	0.020161	0.000000	0.02778	191.72	521	chr3	195779180	.	G	A	191.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.01;DP=5894;ExcessHet=0;FS=17.43;InbreedingCoeff=0.2963;MLEAC=1;MLEAF=0.028;MQ=49.8;MQRankSum=-1.951;QD=3.2;ReadPosRankSum=0.641;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:346,0:346:99:.:.:0,120,1800:.	17	0	1	1
chr3	195779218	195779218	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12362T:p.A4121V	.	534	929	55	1	3	60	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00199681	0.0012	0.0189	0	0	0	0	0	0	0.0003842	10	26028	rs570653011	0.0020	0.0026	0.0019	0.0020	0.0105	0.0019	0.0019	0.0093	0.0089	0.0082	0.0044	0.0063	0.0105	0.0029	0.0026	0.0014	0.0033	0.0014	0.0020	0.0079	0.0021	0.0018	0.0056	0.0017	0.0016	0.0048	0.0044	0.0056	0.0020	0.0009	0.0010	0.0008	0.0020	0.0070	0.0006	0.0017	0.0018	0.627	0.05198	T	0.336	0.18505	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.32	0.12283	N	0.016	0.00485	-1.0054	0.28337	T	0.037	0.15986	T	8	0.004960388	0.00106	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	0.0014571820117349596	0.00134	.	.	0.478965163231	0.35914	T	.	.	.	-0.395893	0.02463	T	-0.806449	0.01746	T	0.000308449673652253	0.00003	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.;.	.;.	0.546246	0.09146	5.931	0.77954834034286202	0.12093	0.00508	0.02383	N	AEFBI	0.056400	0.10424	N	-1.64873185852342	0.01040	0.04512938	-1.74631554552793	0.00947	0.04240378	1.32593971836097E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	0.072000	0.14482	-0.730000	0.07666	-1.704000	0.00753	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2743:0.0:0.7257:0.0	5.068	0.13930	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046729	0.093750	0.021186	0.014706	0.000000	0.095238	0.036458	0.026316	0.02941	92.13	521	chr3	195779218	.	G	A	92.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.57;DP=5472;ExcessHet=0;FS=0;InbreedingCoeff=0.3968;MLEAC=1;MLEAF=0.029;MQ=52.79;MQRankSum=-1.854;QD=1.68;ReadPosRankSum=2.39;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:346,0:346:99:.:.:0,120,1800:.	16	0	1	2
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2843.92	500	chr3	195779220	.	A	*	2843.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=5325;ExcessHet=0;FS=4.787;InbreedingCoeff=0.2311;MLEAC=2;MLEAF=0.143;MQ=56.61;MQRankSum=3.11;QD=9.29;ReadPosRankSum=1.67;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:334,0:334:0:.:.:0,0,1253:.	6	0	1	12
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2307.89	476	chr3	195779228	.	T	*	2307.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=5021;ExcessHet=0;FS=2.92;InbreedingCoeff=0.2615;MLEAC=2;MLEAF=0.167;MQ=57.3;MQRankSum=3.12;QD=9.34;ReadPosRankSum=-1.692;SOR=0.185	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:324,0:324:0:.:.:0,0,2561:.	5	0	1	13
chr3	195779322	195779322	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12257_12258insCC:p.S4087Lfs*173	.	512	995	7	3	5	18	0.00649026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0	0	0	0	0.0013	0	0.0018	.	.	.	rs759807858	0.0009	0.0015	0.0008	0.0010	0.0030	0.0009	0.0008	0.0027	0.0025	0.0006	0.0002	0.0047	0	0	0.0024	0.0008	0.0012	0.0030	6.664e-05	0.0006	4.325e-05	9.135e-05	0.0001	2.89e-05	1.969e-05	1.887e-05	1.023e-05	8.228e-05	0	0.0001	0	0	0	0	7.116e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	669.94	296	chr3	195779322	.	A	AGG	669.94	.	AC=2;AF=0.056;AN=36;DP=2953;ExcessHet=0;FS=0;InbreedingCoeff=0.6828;MLEAC=2;MLEAF=0.056;MQ=47.47;QD=36.66;SOR=1.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:190,0:190:99:.:.:0,114,1800:.	17	1	0	1
chr3	195779325	195779325	A	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.12255delT:p.D4085Efs*174	.	588	918	7	3	6	19	0.00703083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0.0014	0	0.0020	.	.	.	rs753835663	0.0010	0.0014	0.0009	0.0011	0.0033	0.0009	0.0009	0.0029	0.0028	0.0007	0.0002	0.0060	0	0	0.0019	0.0008	0.0014	0.0033	0.0001	0.0009	0.0001	0.0001	0.0003	6.901e-05	5.031e-05	9.147e-05	5.5e-05	0.0003	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	763.94	296	chr3	195779324	.	CA	C	763.94	.	AC=2;AF=0.056;AN=36;DP=2967;ExcessHet=0;FS=0;InbreedingCoeff=0.6828;MLEAC=2;MLEAF=0.056;MQ=47.39;QD=30.13;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:190,0:190:99:.:.:0,114,1800:.	17	1	0	1
chr3	195779325	195779325	A	0	exonic	MUC4	.	.	.	.	723	766	9	4	20	37	0.0109748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	1411.3	296	chr3	195779325	.	A	*	1411.3	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.374;DP=3010;ExcessHet=0;FS=3.691;InbreedingCoeff=0.546;MLEAC=3;MLEAF=0.115;MQ=55;MQRankSum=-14;QD=5.53;ReadPosRankSum=-2.874;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:190,0:190:99:.:.:0,114,1800:.	12	1	0	6
chr3	195779327	195779327	C	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.12253delG:p.D4085Mfs*174	.	720	773	7	3	19	32	0.00833868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0.0013	0	0.0020	.	.	.	rs749980001	0.0009	0.0015	0.0008	0.0010	0.0033	0.0009	0.0009	0.0029	0.0028	0.0007	0.0002	0.0059	0	0	0.0018	0.0007	0.0013	0.0033	0.0001	0.0008	0.0001	0.0002	0.0008	6.779e-05	5.069e-05	7.389e-05	4.423e-05	0.0002	0	0.0001	0	0.0008	0	0	9.078e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	2373.07	296	chr3	195779326	.	TC	T	2373.07	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.08;DP=2983;ExcessHet=0.0027;FS=8.452;InbreedingCoeff=0.4772;MLEAC=2;MLEAF=0.067;MQ=55.05;MQRankSum=-14.42;QD=4.41;ReadPosRankSum=-2.887;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:68:.:.:0,68,5471:.	14	1	0	4
chr3	195779335	195779335	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12245A:p.P4082H	.	490	1018	7	3	4	17	0.00634456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00180689246163	.	.	0.0009	0	0	0	0	0.0009	0	0.0013	.	.	.	.	0.0007	0.0012	0.0006	0.0008	0.0027	0.0007	0.0006	0.0024	0.0022	8.981e-05	0.0001	0.0045	0	0	0.0021	0.0005	0.0010	0.0027	4.457e-05	0.0002	0	9.163e-05	7.161e-05	1.441e-05	9.01e-06	1.899e-05	1.026e-05	4.107e-05	0	0	0	0	0	0	7.161e-05	0	0	0.072	0.42199	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.18	0.09796	N	0.075	0.04913	-1.0064	0.28034	T	0.037	0.16160	T	7	0.025258154	0.00726	T	0.001807	0.03115	T	0.002	0.00045	0.164	0.06842	0.0138822411134	0.00435	0.006124461012039382	0.00581	.	.	0.525325775146	0.42376	T	.	.	.	-0.33395	0.05817	T	-0.717472	0.04918	T	0.0169262058219215	0.00443	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.;.	.;.	2.130127	0.27116	17.35	0.84023736791277071	0.15053	0.00538	0.02482	N	AEFBI	0.074869	0.15020	N	-1.22839780153285	0.04592	0.2075884	-1.35039577409552	0.03801	0.1780501	1.53857166002041E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	0.829000	0.21929	0.173000	0.17773	0.081000	0.22364	0.001000	0.17328	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1267.42	296	chr3	195779335	.	G	T	1267.42	.	AC=2;AF=0.059;AN=34;DP=2896;ExcessHet=0;FS=0;InbreedingCoeff=0.8137;MLEAC=2;MLEAF=0.059;MQ=43.43;QD=28.73;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800:.	16	1	0	2
chr3	195779344	195779344	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12236C:p.S4079T	.	518	988	7	3	6	19	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00354025192197	.	0.00259585	0.0008	0.0043	0	0	0	0.0008	0	0.0002	0.0006916	18	26028	rs201606843	0.0010	0.0047	0.0007	0.0012	0.0042	0.0009	0.0009	0.0037	0.0036	0.0014	0.0008	0.0074	0.0017	0.0003	0.0008	0.0006	0.0017	0.0042	0.0012	0.0035	0.0014	0.0009	0.0028	0.0009	0.0008	0.0021	0.0018	0.0028	0	0.0008	0	0	0.0004	0.0156	0.0007	0	0	1.0	0.00964	T	0.458	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.31088	N	.	.	.	1.29	0.35775	T	-0.22	0.10480	N	0.055	0.03956	-1.0089	0.27261	T	0.035	0.15074	T	7	0.010114998	0.00226	T	0.00354	0.08062	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.0010827751267465356	0.00100	.	.	0.597083687782	0.52493	T	.	.	.	-0.337964	0.05531	T	-0.723239	0.04641	T	0.000837459423592235	0.00008	T	0.49605	0.15399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	-0.779922	0.01146	0.054	0.2084108579602908	0.00768	0.00091	0.00603	N	AEFBI	0.062084	0.11912	N	-1.85706924428011	0.00420	0.01806415	-1.94315667313069	0.00401	0.01773408	1.71647384336543E-4	0.05786	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.386000	0.20429	-0.460000	0.09044	-2.225000	0.00346	0.024000	0.20007	0.000000	0.08366	0.008000	0.08271	0.0:0.7312:0.0:0.2688	5.400	0.15591	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1668.42	296	chr3	195779344	.	C	G	1668.42	.	AC=2;AF=0.059;AN=34;DP=2908;ExcessHet=0;FS=0;InbreedingCoeff=0.8137;MLEAC=2;MLEAF=0.059;MQ=44.01;QD=27.39;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800:.	16	1	0	2
chr3	195779348	195779348	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12232G:p.T4078A	.	497	1010	7	3	5	18	0.00639449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00558112130345	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs867000502	0.0008	0.0024	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	9.228e-05	0.0002	0.0068	0.0005	0.0001	0.0007	0.0005	0.0016	0.0038	6.432e-05	0.0005	4.996e-05	7.957e-05	0.0001	2.479e-05	1.564e-05	3.594e-05	2.179e-05	4.781e-05	0	0	0	0	0	0	0.0001	0	0	0.399	0.10517	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.34050	T	-0.2	0.10656	N	0.025	0.01135	-1.0312	0.20066	T	0.036	0.15378	T	7	0.032523215	0.01406	T	0.005581	0.14409	T	0.116	0.32463	0.141	0.04462	0.0138822411134	0.00435	0.0016348145852771723	0.00151	.	.	0.513516902924	0.40715	T	.	.	.	-0.330307	0.06089	T	-0.71224	0.05180	T	0.0395774206418778	0.03613	T	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.;.	.;.	0.063231	0.04735	1.364	0.15367596653047688	0.00373	0.00120	0.00751	N	AEFBI	0.062070	0.11907	N	-1.89793912134882	0.00347	0.01488908	-2.00956016551023	0.00292	0.01290975	2.42342441530431E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.450000	0.21475	-3.779000	0.02542	0.085000	0.17582	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	0.2464:0.2537:0.2463:0.2535	0.133	0.00070	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1846.8	296	chr3	195779348	.	T	C	1846.8	.	AC=2;AF=0.056;AN=36;DP=2914;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=43.75;QD=28.77;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800:.	17	1	0	1
chr3	195779351	195779351	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12229C:p.D4077H	.	505	1001	7	3	6	19	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00220071018002	.	0.00259585	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs571574310	0.0008	0.0021	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	0.0001	0.0002	0.0068	0.0004	3.314e-05	0.0007	0.0005	0.0016	0.0038	9.644e-05	0.0008	0.0001	8.559e-05	0.0001	4.498e-05	3.167e-05	3.837e-05	2.276e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.3	0.16091	T	0.106	0.38160	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.38	0.15379	N	0.065	0.03841	-1.0614	0.11410	T	0.028	0.11882	T	7	0.0069993734	0.00159	T	0.002201	0.04151	T	0.128	0.35103	0.151	0.05441	0.0138822411134	0.00435	0.002611084531484482	0.00242	.	.	0.556186378002	0.46729	T	.	.	.	-0.363594	0.03931	T	-0.760054	0.03111	T	0.0268409512829791	0.01522	T	0.605039	0.22725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	0.228750	0.06102	2.547	0.1122228957335428	0.00163	0.00416	0.02058	N	AEFBI	0.080898	0.16362	N	-1.54262066526545	0.01577	0.06894808	-1.74102727225216	0.00968	0.04333797	1.43075145935211E-4	0.05573	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.108000	0.10827	-5.597000	0.01661	0.078000	0.17572	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2996:0.4006:0.2998:0.0	2.748	0.04947	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1981.8	296	chr3	195779351	.	C	G	1981.8	.	AC=2;AF=0.056;AN=36;DP=2916;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=43.45;QD=31.05;SOR=1.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:176,0:176:99:.:.:0,120,1800:.	17	1	0	1
chr3	195779372	195779372	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12208A:p.P4070T	.	482	1018	7	6	9	28	0.00924574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0196441212856	.	.	5.894e-05	0	0	0	0	0.0001	0	0	.	.	.	rs867543975	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	4.355e-05	0.0001	0.0064	0	0	0.0021	0.0005	0.0014	0.0035	0.0001	0.0006	9.96e-05	0.0001	0.0006	5.096e-05	3.673e-05	7.037e-05	4.828e-05	0	0	0	0	0.0006	0.0002	0	0.0002	0	0	0.29	0.14996	T	0.199	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29602	T	-0.37	0.15782	N	0.017	0.00226	-1.0077	0.27634	T	0.031	0.13418	T	7	0.034207344	0.01621	T	0.019644	0.42054	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.004583564881801972	0.00431	.	.	0.555163383484	0.46585	T	.	.	.	-0.372528	0.03468	T	-0.772887	0.02674	T	0.0338267409433816	0.02608	T	0.59684	0.22194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.;.	.;.	-0.246798	0.02861	0.404	0.72364385229519168	0.09947	0.00065	0.00468	N	AEFBI	0.046793	0.07810	N	-1.3404336947986	0.03225	0.1436975	-1.45104001981547	0.02761	0.1275674	1.18676957427108E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.340000	0.07868	-8.022000	0.01043	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3306:0.3412:0.3282	2.167	0.03603	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002994	0.000000	0.000000	0.000000	0.000000	0.000000	0.010638	0.006757	0.05556	3217.8	253	chr3	195779372	.	G	T	3217.8	.	AC=2;AF=0.056;AN=36;DP=2823;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=46.03;QD=35.21;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,120,1800:.	17	1	0	1
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.125	4903.95	250	chr3	195779374	.	C	A	4903.95	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=4;MLEAF=0.167;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:167,0:167:0:.:.:0,0,4087:.	9	0	3	7
chr3	195779374	195779374	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206A:p.S4069N	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0128577008312	.	.	7.978e-05	0	0	0	0	0.0002	0	0	.	.	.	rs150394536	0.0013	0.0011	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0035	5.063e-05	0.0001	0.0083	0	0	0.0008	0.0010	0.0019	0.0041	0.0001	0.0004	6.219e-05	0.0002	0.0002	5.226e-05	3.671e-05	0.0001	7.961e-05	0	0	0	0	0	0	0	0.0002	0	0	0.05	0.39575	D	0.145	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.50976	T	-0.38	0.13418	N	0.027	0.01347	-1.0732	0.08724	T	0.057	0.23980	T	7	0.04491505	0.03503	T	0.012858	0.31797	T	0.043	0.11576	0.132	0.03662	0.0138822411134	0.00435	0.0015149652723430009	0.00140	.	.	0.555448949337	0.46625	T	.	.	.	-0.340207	0.05374	T	-0.72646	0.04489	T	0.0234442759583474	0.01076	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	-0.337979	0.02454	0.282	0.57510427609479231	0.05785	0.00260	0.01424	N	AEFBI	0.098906	0.19920	N	-0.957344642240742	0.09529	0.4513623	-1.15047258852807	0.06760	0.3264632	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	4903.95	250	chr3	195779374	.	C	T	4903.95	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=3;MLEAF=0.125;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:167,0:167:0:.:.:0,0,4087:.	11	1	0	7
chr3	195779375	195779375	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12205G:p.S4069G	.	488	1019	3	3	9	18	0.00439668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0128824445826	.	.	5.854e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs747726297	0.0007	0.0007	0.0005	0.0009	0.0034	0.0007	0.0007	0.0031	0.0029	4.264e-05	0.0001	0.0063	0	0	0.0007	0.0004	0.0014	0.0034	3.763e-05	0.0003	2.444e-05	5.152e-05	8.032e-05	9.99e-06	4.77e-06	2.129e-05	1.09e-05	0	0	0	0	0	0	0	8.032e-05	0	0	0.035	0.43708	D	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.46777	T	-1.1	0.28497	N	0.019	0.00618	-1.0692	0.09590	T	0.057	0.24055	T	7	0.055978596	0.06203	T	0.012882	0.31834	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.0018607697187511334	0.00172	.	.	0.519302546978	0.41528	T	.	.	.	-0.32519	0.06481	T	-0.70489	0.05562	T	0.0232069504183903	0.01047	T	0.720928	0.33404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26638	B	.;.	.;.	0.266663	0.06444	2.919	0.30910586073570662	0.01715	0.00752	0.03125	N	AEFBI	0.114220	0.22507	N	-0.993415001990743	0.08743	0.4111488	-1.165294542488	0.06497	0.3129581	1.16204050497744E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.880000	0.04291	-4.866000	0.01950	-1.782000	0.00650	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:1.0E-4:0.4478:0.552	3.255	0.06426	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3207.8	217	chr3	195779375	.	T	C	3207.8	.	AC=2;AF=0.056;AN=36;DP=2714;ExcessHet=0;FS=0;InbreedingCoeff=0.8178;MLEAC=2;MLEAF=0.056;MQ=46.65;QD=34.83;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	17	1	0	1
chr3	195779390	195779390	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12190A:p.P4064T	.	455	1056	3	3	5	14	0.00424328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00216979468948	.	.	5.885e-05	0	0	0	0	0.0001	0	0	.	.	.	rs377680835	0.0006	0.0006	0.0005	0.0008	0.0032	0.0006	0.0006	0.0028	0.0027	0	9.694e-05	0.0059	0	0	0.0006	0.0004	0.0012	0.0032	3.747e-05	0.0002	2.434e-05	5.132e-05	8.215e-05	9.95e-06	4.76e-06	2.177e-05	1.103e-05	0	0	0	0	0	0	0	8.215e-05	0	0	0.01	0.56456	D	0.81	0.04079	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.39223	T	1.13	0.01949	N	0.017	0.00372	-1.0497	0.14481	T	0.047	0.20275	T	7	0.05192232	0.05146	T	0.00217	0.04071	T	0.002	0.00045	0.173	0.07894	0.0138822411134	0.00435	0.0015594181715905598	0.00143	.	.	0.556219995022	0.46734	T	.	.	.	-0.278186	0.10861	T	-0.637371	0.09863	T	0.0664544471469562	0.08144	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.	.;.	0.653005	0.10212	6.953	0.80725508010237279	0.13339	0.00023	0.00238	N	AEFBI	0.040914	0.06150	N	-1.22252448038688	0.04675	0.2114811	-1.37461058520955	0.03525	0.1645831	1.93577006927337E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.208000	0.17212	-4.246000	0.02259	0.086000	0.17587	0.669000	0.28339	0.000000	0.08366	0.023000	0.12082	0.3325:0.0:0.6675:0.0	4.395	0.10790	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	3182.61	217	chr3	195779390	.	G	T	3182.61	.	AC=2;AF=0.059;AN=34;DP=2846;ExcessHet=0;FS=0;InbreedingCoeff=0.6904;MLEAC=2;MLEAF=0.059;MQ=48.67;QD=28.54;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	16	1	0	2
chr3	195779392	195779392	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12188G:p.T4063S	.	456	1055	3	3	5	14	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00169975901753	.	.	5.896e-05	0	0	0	0	0.0002	0	0	.	.	.	rs549946968	0.0006	0.0006	0.0005	0.0007	0.0030	0.0006	0.0006	0.0027	0.0026	0	9.241e-05	0.0052	0	0	0.0006	0.0004	0.0011	0.0030	3.657e-05	0.0001	2.373e-05	5.014e-05	8.106e-05	9.71e-06	4.69e-06	2.149e-05	1.095e-05	0	0	0	0	0	0	0	8.106e-05	0	0	0.139	0.28646	T	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	1	0.22150	N	.	.	.	1.59	0.31205	T	-0.52	0.18248	N	0.054	0.02559	-1.0065	0.28004	T	0.040	0.17191	T	7	0.053790867	0.05627	T	0.002	0.02830	T	0.024	0.04979	0.094	0.01195	0.0138822411134	0.00435	0.0020188336523209852	0.00186	.	.	0.523128151894	0.42066	T	.	.	.	-0.291532	0.09483	T	-0.656542	0.08502	T	0.0377629015682616	0.03290	T	0.466053	0.13673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	1.256625	0.16543	12.61	0.46672847949078178	0.03756	0.01261	0.04425	N	AEFBI	0.072068	0.14370	N	-1.18907812038378	0.05165	0.2347855	-1.29624405083705	0.04481	0.2114758	8.37637314344522E-5	0.04703	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.083000	0.11250	0.943000	0.22867	0.086000	0.17587	0.333000	0.25615	0.001000	0.17328	0.022000	0.11911	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	3182.61	217	chr3	195779392	.	G	C	3182.61	.	AC=2;AF=0.059;AN=34;DP=2843;ExcessHet=0;FS=0;InbreedingCoeff=0.6904;MLEAC=2;MLEAF=0.059;MQ=48.74;QD=23.69;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	16	1	0	2
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.2083	4879.21	216	chr3	195779396	.	C	T	4879.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-3.05;DP=2869;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.1684;MLEAC=7;MLEAF=0.292;MQ=54.32;MQRankSum=-11.44;QD=8.53;ReadPosRankSum=3.75;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	8	1	3	7
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009474	0.000000	0.013699	0.014706	0.000000	0.000000	0.000000	0.014085	0.05882	59469.9	189	chr3	195779399	.	G	C	59469.9	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.02;DP=3272;ExcessHet=0;FS=0.638;InbreedingCoeff=0.7185;MLEAC=2;MLEAF=0.059;MQ=56.12;MQRankSum=0.104;QD=34.28;ReadPosRankSum=0.403;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	16	1	0	2
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	10	6	2	1
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3477.33	189	chr3	195779404	.	G	C	3477.33	.	AC=2;AF=0.056;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=2;MLEAF=0.056;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	17	1	0	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	10	5	2	2
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3192.38	189	chr3	195779418	.	A	AGG	3192.38	.	AC=2;AF=0.059;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=2;MLEAF=0.059;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	16	1	0	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	9	6	2	2
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3190.95	189	chr3	195779420	.	CAT	C	3190.95	.	AC=2;AF=0.059;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=2;MLEAF=0.059;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	16	1	0	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	11	5	2	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H,MUC4:NM_001322468:exon17:c.C10373A:p.P3458H	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.060920	0.079710	0.028226	0.205357	0.100000	0.000000	0.051136	0.024590	0.05556	3191.99	189	chr3	195779431	.	G	T	3191.99	.	AC=2;AF=0.056;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=2;MLEAF=0.056;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	17	1	0	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	11	6	1	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A,MUC4:NM_001322468:exon17:c.A10360G:p.T3454A	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.171460	0.201493	0.120155	0.395161	0.500000	0.020833	0.193548	0.109375	0.08333	3317.78	189	chr3	195779444	.	T	C	3317.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=3;MLEAF=0.083;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:143:99:.:.:6140,6149,6275:.	16	1	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,140:143:99:.:.:6140,304,0:.	11	6	1	1
chr3	195779469	195779516	GCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12064_12111del:p.P4022_S4037del,MUC4:NM_001322468:exon17:c.10288_10335del:p.Q3430_A4615delinsDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0023	0	0	0.0027	0.0006	0	0.0002	.	.	.	rs758470711	7.774e-05	0.0002	7.662e-05	7.89e-05	0.0009	6.3e-05	5.789e-05	0.0006	0.0005	0.0009	8.155e-05	0.0010	0.0003	0	0	3.678e-05	0.0003	1.82e-05	0.0006	0.0012	0.0006	0.0007	0.0020	0.0004	0.0004	0.0012	0.0010	0.0020	0	0.0002	0.0015	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	39.18	166	chr3	195779468	.	TGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGG	T	39.18	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.987;DP=2601;ExcessHet=0;FS=0;InbreedingCoeff=0.1888;MLEAC=1;MLEAF=0.029;MQ=55.4;MQRankSum=0.645;QD=2.8;ReadPosRankSum=2.87;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:90:.:.:0,90,1350:.	16	0	1	2
chr3	195779470	195779470	C	0	exonic	MUC4	.	.	.	.	2	173	39	7	5	58	0.132832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1003.07	166	chr3	195779470	.	C	*	1003.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.9;DP=2566;ExcessHet=0.0128;FS=3.737;InbreedingCoeff=0.4167;MLEAC=1;MLEAF=0.029;MQ=49.72;MQRankSum=2.36;QD=29.5;ReadPosRankSum=0.11;SOR=1.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,105,1575:.	16	0	1	2
chr3	195779471	195779471	T	0	exonic	MUC4	.	.	.	.	526	856	87	26	27	166	0.0750945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1003.15	166	chr3	195779471	.	T	*	1003.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.967;DP=2562;ExcessHet=0.0128;FS=3.737;InbreedingCoeff=0.4167;MLEAC=1;MLEAF=0.029;MQ=49.51;MQRankSum=2.36;QD=29.5;ReadPosRankSum=0.493;SOR=1.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,105,1575:.	16	0	1	2
chr3	195779483	195779483	C	0	exonic	MUC4	.	.	.	.	602	774	90	31	25	177	0.0894118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	488.37	166	chr3	195779483	.	C	*	488.37	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.799;DP=2577;ExcessHet=0;FS=1.314;InbreedingCoeff=0.7286;MLEAC=1;MLEAF=0.031;MQ=55.19;MQRankSum=-6.237;QD=1.57;ReadPosRankSum=0.05;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,105,1575:.	15	0	1	3
chr3	195779492	195779492	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12088A:p.A4030T,MUC4:NM_001322468:exon17:c.G10312A:p.A3438T	.	504	998	10	1	9	21	0.0059761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00418503029548	.	.	0.0011	0.0068	0	0.0066	0	0.0010	0	0	7.68e-05	2	26028	rs201610286	0.0006	0.0014	0.0005	0.0006	0.0056	0.0005	0.0005	0.0046	0.0043	0.0021	0.0014	0.0008	0.0056	0.0007	0	0.0003	0.0005	0.0013	0.0012	0.0030	0.0013	0.0012	0.0038	0.0010	0.0009	0.0028	0.0025	0.0038	0	0.0009	0.0009	0	0.0010	0	0.0005	0	0.0006	0.544	0.06713	T	0.348	0.17804	T	.	.	.	.	.	.	0.380396	0.13397	U	0.326178	1	0.08975	N	.	.	.	1.32	0.35775	T	0.77	0.01949	N	0.049	0.06059	-1.0415	0.16860	T	0.036	0.15726	T	8	0.0062698424	0.00141	T	0.004185	0.10058	T	0.028	0.06331	.	.	0.0138822411134	0.00435	5.312176544221146E-4	0.00049	.	.	0.53436434269	0.43649	T	.	.	.	-0.380383	0.03099	T	-0.784171	0.02330	T	0.00133984037597319	0.00013	T	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03736	B	.;.	.;.	-0.379171	0.02292	0.240	0.1287385868035672	0.00237	0.00006	0.00120	N	AEFI	0.022889	0.01203	N	-1.83812636536535	0.00459	0.01972532	-1.94292326004565	0.00401	0.01775236	4.60139763418673E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.955000	0.00741	-6.298000	0.01438	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2712:0.2994:0.4294	2.314	0.03938	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017065	0.046667	0.005376	0.017241	0.000000	0.013158	0.012931	0.012346	0.05556	71.2	166	chr3	195779492	.	C	T	71.2	.	AC=2;AF=0.056;AN=36;DP=2422;ExcessHet=0;FS=0;InbreedingCoeff=0.7405;MLEAC=1;MLEAF=0.028;MQ=46;QD=32.36;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,105,1575:.	17	1	0	1
chr3	195779501	195779501	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12079T:p.T4027S,MUC4:NM_001322468:exon17:c.A10303T:p.T3435S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00374578285358	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1481210309	3.122e-05	0.0004	3.451e-05	2.79e-05	0.0001	2.285e-05	2.028e-05	4.148e-05	2.417e-05	3.422e-05	0.0001	0.0001	6.89e-05	2.515e-05	0	2.623e-05	2.052e-05	1.382e-05	9.815e-06	0.0003	1.882e-05	0	3.169e-05	0	0	.	.	3.169e-05	0	0	0	0	0	0	0	0	0	0.532	0.10482	T	0.835	0.03674	T	.	.	.	.	.	.	0.584203	0.11114	U	0.395708	1	0.08975	N	.	.	.	1.44	0.32722	T	0.17	0.05125	N	0.065	0.03726	-1.0370	0.18233	T	0.032	0.13942	T	8	0.06966394	0.10027	T	0.003746	0.08682	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.001275087623026635	0.00117	.	.	0.49954688549	0.38764	T	.	.	.	-0.33093	0.06041	T	-0.713135	0.05135	T	0.0378775149583817	0.03310	T	0.510449	0.16283	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32945	B	.;.	.;.	0.777854	0.11479	8.082	0.45705155810256842	0.03607	0.00373	0.01896	N	AEFI	0.073427	0.14686	N	-1.09220533376408	0.06785	0.31339	-1.23885946884122	0.05298	0.252097	1.16378297766622E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.007000	0.12747	0.135000	0.15097	-1.362000	0.01180	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3911:0.0:0.6089	2.735	0.04915	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.56	166	chr3	195779501	.	T	A	71.56	.	AC=2;AF=0.056;AN=36;DP=2422;ExcessHet=0;FS=0;InbreedingCoeff=0.6305;MLEAC=1;MLEAF=0.028;MQ=46;QD=28.88;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,105,1575:.	17	1	0	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	5	7	1	6
chr3	195779676	195779676	A	0	exonic	MUC4	.	.	.	.	468	870	11	10	163	194	0.0175042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	2274.57	157	chr3	195779676	.	A	*	2274.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-0.398;DP=2996;ExcessHet=0;FS=1.264;InbreedingCoeff=0.8688;MLEAC=11;MLEAF=0.344;MQ=54.34;MQRankSum=1.62;QD=1.98;ReadPosRankSum=2.7;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	11	5	0	3
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,200:205:99:1|1:195779564_T_G:8383,384,0:195779564	7	5	1	6
chr3	195779707	195779710	GTGT	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.11870_11873del:p.D3957Vfs*301,MUC4:NM_001322468:exon16:c.10142_10145del:p.G3381Afs*119	.	461	1029	13	7	12	39	0.0129496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0013	0	0	0	0.0006	0	0.0003	0.0002689	7	26028	rs752130891	0.0048	0.0054	0.0044	0.0052	0.0096	0.0047	0.0047	0.0071	0.0062	0.0015	0.0067	0.0126	2.965e-05	0.0058	0.0096	0.0049	0.0069	0.0018	0.0016	0.0084	0.0016	0.0017	0.0025	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0025	0.0015	0	0.0008	0	0.0025	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2592.42	203	chr3	195779706	.	AGTGT	A	2592.42	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.58;DP=2795;ExcessHet=0;FS=0;InbreedingCoeff=0.9991;MLEAC=2;MLEAF=0.053;MQ=53.8;MQRankSum=1.79;QD=27.58;ReadPosRankSum=4.4;SOR=0.815	GT:AD:DP:GQ:PL	0/0:143,0:143:99:0,120,1800	18	1	0	0
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006422	0.007353	0.000000	0.000000	0.000000	0.000000	0.026316	0.000000	0.02941	236.26	203	chr3	195779779	.	G	A	236.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.15;DP=2963;ExcessHet=0;FS=0;InbreedingCoeff=-0.0045;MLEAC=1;MLEAF=0.029;MQ=34.94;MQRankSum=0.366;QD=33.75;ReadPosRankSum=1.15;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	16	0	1	2
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,135:150:32:.:.:5372,0,32:.	5	6	2	6
chr3	195779966	195779966	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11614T:p.P3872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00593011867297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751870830	9.79e-06	1.987e-05	5.944e-06	1.374e-05	8.004e-05	5.46e-06	4.21e-06	3.47e-05	2.284e-05	4.507e-05	2.926e-05	0	0	0	0	4.849e-06	0	8.004e-05	2.536e-05	0.0004	1.657e-05	3.449e-05	8.877e-05	6.74e-06	2.87e-06	1.568e-05	6.49e-06	8.877e-05	0	0	0	0	0	0	1.676e-05	0	0	0.276	0.15717	T	0.965	0.02516	T	.	.	.	.	.	.	.	.	.	.	0.99999	0.58761	D	.	.	.	1.57	0.30669	T	0.47	0.03639	N	0.159	0.16586	-1.0463	0.15447	T	0.036	0.15378	T	7	0.08696544	0.14835	T	0.00593	0.15460	T	0.047	0.12962	0.122	0.02867	0.0138822411134	0.00435	0.006639965916138862	0.00631	.	.	0.466674238443	0.34224	T	.	.	.	-0.354092	0.04475	T	-0.746405	0.03628	T	0.136093737497614	0.15934	T	0.648535	0.25952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06159	B	.;.	.;.	0.745573	0.11150	7.792	0.88340590134953767	0.17900	0.00155	0.00932	N	AEFBI	0.050577	0.08853	N	-0.975544654075224	0.09128	0.4307401	-1.18753841709483	0.06117	0.2934697	4.06979251931331E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.611000	0.02165	-5.082000	0.01857	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3732.43	268	chr3	195779966	.	G	A	3732.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=4033;ExcessHet=0.119;FS=1.74;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=54.49;MQRankSum=0.225;QD=7.73;ReadPosRankSum=-0.853;SOR=0.646	GT:AD:DP:GQ:PL	0/0:248,0:248:99:0,120,1800	18	0	1	0
chr3	195779966	195779966	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3732.43	268	chr3	195779966	.	G	*	3732.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=4033;ExcessHet=0.119;FS=1.74;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=54.49;MQRankSum=0.225;QD=7.73;ReadPosRankSum=-0.853;SOR=0.646	GT:AD:DP:GQ:PL	0/0:248,0:248:99:0,120,1800	18	0	1	0
chr3	195780016	195780112	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	0	exonic	MUC4	.	.	.	.	474	577	408	37	26	508	0.294621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	25634.0	268	chr3	195780016	.	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	*	25634.0	.	AC=1;AF=0.029;AN=34;BaseQRankSum=5.3;DP=4863;ExcessHet=0.0568;FS=7.231;InbreedingCoeff=0.2861;MLEAC=1;MLEAF=0.029;MQ=53.79;MQRankSum=5.44;QD=18.39;ReadPosRankSum=-0.59;SOR=0.753	GT:AD:DP:GQ:PL	0/0:248,0:248:99:0,120,1800	16	0	1	2
chr3	195780062	195780062	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11518T:p.P3840S,MUC4:NM_001322468:exon15:c.C10078T:p.P3360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00191585631282	.	.	0.0011	0	0	0	0	0.0031	0	0	0.0001294	20	154602	rs77359000	4.961e-05	0.0003	4.155e-05	5.806e-05	0.0008	3.601e-05	3.186e-05	0.0003	0.0002	8.663e-05	0	0.0001	0.0008	0	0.0005	4.027e-05	7.523e-05	2.452e-05	7.115e-05	0.0011	6.979e-05	7.257e-05	0.0007	2.36e-05	1.418e-05	.	.	8.741e-05	0.0028	0	0	0.0007	0	0	3.551e-05	0	0	0.195	0.20759	T	0.743	0.04930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.72	0.02099	N	0.081	0.05670	-1.0123	0.26196	T	0.046	0.19680	T	7	0.008221775	0.00187	T	0.001916	0.03377	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.0039050109296569226	0.00366	.	.	0.447340726852	0.31581	T	.	.	.	-0.349742	0.04743	T	-0.740157	0.03884	T	0.0408287172558713	0.03842	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	0.464580	0.08344	5.093	0.88083583345962002	0.17703	0.00192	0.01112	N	AEFBI	0.054969	0.10039	N	-1.24007928164337	0.04431	0.1999952	-1.34230980039169	0.03896	0.1827371	1.27391591289984E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.778000	0.04770	-0.825000	0.07279	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.123552	0.272727	0.153179	0.140845	0.000000	0.064516	0.089109	0.052632	0.05882	4631.74	396	chr3	195780062	.	G	A	4631.74	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=2;MLEAF=0.059;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:316,0:316:99:.:.:0,120,1800:.	16	1	0	2
chr3	195780062	195780062	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	4631.74	396	chr3	195780062	.	G	*	4631.74	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=5;MLEAF=0.147;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:316,0:316:99:.:.:0,120,1800:.	13	1	3	2
chr3	195780103	195780103	G	0	exonic	MUC4	.	.	.	.	460	608	62	9	383	463	0.0617284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6505.95	396	chr3	195780103	.	G	*	6505.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.79;DP=4985;ExcessHet=0.0101;FS=13.569;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.25;MQ=51.06;MQRankSum=1.46;QD=8.97;ReadPosRankSum=-1.24;SOR=0.586	GT:AD:DP:GQ:PL	./.:326,0:326:0:0,0,7344	7	0	3	9
chr3	195780140	195780140	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11440A:p.L3814I,MUC4:NM_001322468:exon15:c.C10000A:p.L3334I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00751893784639	.	.	0.0003	0.0032	0	0	0	0.0002	0	0.0003	.	.	.	rs1394893485	5.823e-05	0.0002	6.291e-05	5.344e-05	0.0016	4.666e-05	4.246e-05	0.0012	0.0010	0.0016	7.125e-05	5.233e-05	7.51e-05	2.667e-05	0	2.455e-05	6.805e-05	3.051e-05	0.0002	0.0007	0.0002	0.0003	0.0008	0.0001	0.0001	0.0004	0.0003	0.0008	0	0.0006	0	0	0.0002	0.0111	5.568e-05	0	0	0.126	0.27194	T	0.312	0.19599	T	.	.	.	.	.	.	.	.	.	.	0.999615	0.47849	D	.	.	.	1.48	0.32958	T	0.07	0.06138	N	0.049	0.03613	-1.0282	0.21038	T	0.029	0.12365	T	7	0.0076615512	0.00174	T	0.007519	0.19952	T	0.048	0.13305	0.139	0.04277	0.0138822411134	0.00435	2.4349943138021597E-4	0.00022	.	.	0.452853739262	0.32334	T	.	.	.	-0.350226	0.04713	T	-0.740852	0.03855	T	0.00629011413528231	0.00070	T	0.777722	0.41106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23041	B	.;.	.;.	-0.114255	0.03558	0.685	0.91724837911726576	0.21021	0.01495	0.04959	N	AEFBI	0.069134	0.13670	N	-1.80280118923879	0.00538	0.02317863	-1.90666639562053	0.00475	0.02103213	1.17879017613203E-4	0.05269	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.192000	0.09585	-5.863000	0.01571	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.3322:0.3337:0.3341:0.0	2.187	0.03650	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	928.55	389	chr3	195780140	.	G	T	928.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.591;DP=5485;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=57.36;MQRankSum=-3.169;QD=6.19;ReadPosRankSum=9.36;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:339,0:339:99:.:.:0,107,1800:.	15	0	1	3
chr3	195780193	195780193	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11387G:p.T3796S,MUC4:NM_001322468:exon15:c.C9947G:p.T3316S	.	439	1036	47	0	0	47	0.0221803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0102740603301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774134232	0.0007	0.0096	0.0007	0.0007	0.0014	0.0007	0.0007	0.0011	0.0010	0.0004	0.0012	0.0009	0.0014	0.0018	0.0005	0.0006	0.0008	0.0004	0.0022	0.0099	0.0020	0.0024	0.0033	0.0020	0.0019	0.0022	0.0019	0.0013	0.0024	0.0029	0.0024	0.0033	0.0037	0	0.0023	0.0015	0.0029	0.115	0.28520	T	1.0	0.01155	T	.	.	.	.	.	.	0.647533	0.05904	U	1.826270	1	0.81001	D	.	.	.	1.26	0.37746	T	0.37	0.06138	N	0.022	0.00407	-1.0305	0.20292	T	0.054	0.22921	T	8	0.029604882	0.01087	T	0.010274	0.26610	T	0.029	0.06676	0.113	0.02240	0.0138822411134	0.00435	4.978917510209087E-4	0.00045	.	.	0.464994490147	0.33994	T	.	.	.	-0.317265	0.07125	T	-0.693506	0.06189	T	0.0254426680646495	0.01331	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.42962	B	.;.	.;.	1.906476	0.24211	16.31	0.43164588235131718	0.03231	0.01212	0.04309	N	AEFBI	0.118083	0.23105	N	-0.943984195751418	0.09828	0.4668993	-1.14835345052112	0.06798	0.328425	1.53996112590549E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.580000	0.23505	-0.484000	0.08901	0.093000	0.17603	0.001000	0.13787	0.000000	0.08366	0.052000	0.15357	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	430.38	408	chr3	195780193	.	G	C	430.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.903;DP=7807;ExcessHet=0;FS=9.67;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=53.88;MQRankSum=-6.515;QD=2.36;ReadPosRankSum=4.69;SOR=1.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:518,0:518:99:.:.:0,120,1800:.	18	0	1	0
chr3	195780212	195780212	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A11368G:p.T3790A,MUC4:NM_001322468:exon15:c.A9928G:p.T3310A	.	450	1068	4	0	0	4	0.00186916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.157947	0.0020	0.0075	0.0026	0	0.0019	0.0021	0	0.0013	0.0057502	889	154602	rs78552467	0.0020	0.0055	0.0020	0.0019	0.0047	0.0019	0.0019	0.0040	0.0038	0.0047	0.0024	0.0026	0.0029	0.0017	0.0021	0.0018	0.0024	0.0020	0.0022	0.0093	0.0023	0.0020	0.0046	0.0019	0.0018	0.0038	0.0036	0.0046	0.0016	0.0008	0.0004	0.0003	0.0010	0.0120	0.0018	0.0016	0.0003	0.431	0.13610	T	0.038	0.51421	D	.	.	.	.	.	.	0.569665	0.11251	U	0.388960	1	0.81001	D	.	.	.	1.54	0.30401	T	-0.8	0.22078	N	0.022	0.00770	-1.0425	0.16562	T	0.030	0.12804	T	8	0.002778381	0.00044	T	.	.	.	0.039	0.10176	.	.	0.0138822411134	0.00435	4.4809569040158624E-4	0.00040	.	.	0.473674535751	0.35186	T	.	.	.	-0.33269	0.05910	T	-0.715663	0.05008	T	0.00922962232850453	0.00117	T	0.506749	0.16047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.;.	.;.	0.368375	0.07406	4.035	0.63711632242100646	0.07297	0.00870	0.03447	N	AEFBI	0.062952	0.12134	N	-1.03928605296556	0.07799	0.3635398	-1.20137345916064	0.05888	0.2818536	1.1658109177863E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	3.439000	0.52642	-7.285000	0.01189	0.091000	0.17597	0.737000	0.28995	0.000000	0.08366	0.046000	0.14843	3.0E-4:2.0E-4:0.4983:0.5012	2.830	0.05161	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027363	0.070652	0.001684	0.076190	0.150000	0.012195	0.020833	0.013158	0.03333	394.05	19	chr3	195780212	.	T	C	394.05	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.28;DP=8246;ExcessHet=0;FS=2.754;InbreedingCoeff=0.1084;MLEAC=1;MLEAF=0.033;MQ=54.66;MQRankSum=1.32;QD=20.74;ReadPosRankSum=2.05;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:574,0:574:0:.:.:0,0,9820:.	14	0	1	4
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	820.79	19	chr3	195780215	.	C	*	820.79	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-0.755;DP=8489;ExcessHet=2.1469;FS=13.715;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.208;MQ=55.03;MQRankSum=-8.258;QD=0.49;ReadPosRankSum=0.181;SOR=1.971	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:576,0:576:0:.:.:0,0,6864:.	8	0	4	7
chr3	195780371	195780371	-	TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTAGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACTAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACTAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.904e-06	3.685e-06	0	3.728e-06	2.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66797.9	40	chr3	195780371	.	C	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTAGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	66797.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.348;DP=9675;ExcessHet=6.1876;FS=1.117;InbreedingCoeff=-0.2527;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=4.54;QD=20.79;ReadPosRankSum=-16.11;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:534,0:534:99:.:.:0,120,1800:.	18	0	1	0
chr3	195780371	195780371	-	TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSS	.	1	82	100	38	5	181	0.517647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0077	0	0	0	0.0041	0	0.0003	0.0001488	23	154602	.	0.0070	0.0048	0.0071	0.0070	0.0084	0.0069	0.0068	0.0073	0.0069	0.0045	0.0084	0.0061	4.682e-05	0.0248	0.0074	0.0066	0.0096	0.0022	0.0055	0.0036	0.0050	0.0059	0.0068	0.0049	0.0047	0.0059	0.0055	0.0022	0	0.0068	0.0038	0.0008	0.0134	0	0.0068	0.0088	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66797.9	40	chr3	195780371	.	C	CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	66797.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.348;DP=9675;ExcessHet=6.1876;FS=1.117;InbreedingCoeff=-0.2527;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=4.54;QD=20.79;ReadPosRankSum=-16.11;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:534,0:534:99:.:.:0,120,1800:.	18	0	1	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	45874.5	680	chr3	195780499	.	G	*	45874.5	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.721;DP=7497;ExcessHet=0.0925;FS=0;InbreedingCoeff=0.2762;MLEAC=5;MLEAF=0.147;MQ=54.24;MQRankSum=1.72;QD=9.76;ReadPosRankSum=-1.183;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:453,0:453:0:.:.:0,0,0:.	12	0	5	2
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,271:465:99:1|0:195780492_AGGGGTGGCCT_A:10547,0,7267:195780492	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	4	0	5	10
chr3	195780590	195780590	G	0	exonic	MUC4	.	.	.	.	755	498	22	0	247	269	0.021611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	301.13	579	chr3	195780590	.	G	*	301.13	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.87;DP=6561;ExcessHet=2.5072;FS=1.283;InbreedingCoeff=0.0198;MLEAC=7;MLEAF=0.389;MQ=50.81;MQRankSum=11.14;QD=0.13;ReadPosRankSum=2.14;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,277:579:99:0|1:195780492_AGGGGTGGCCT_A:10275,0,11783:195780492	5	0	4	10
chr3	195780658	195780658	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T10922C:p.V3641A,MUC4:NM_001322468:exon13:c.T9674C:p.V3225A	.	429	1058	34	0	1	35	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000705685479196	.	.	0.0015	0.0068	0	0	0	0.0020	0.0045	0.0005	7.68e-05	2	26028	rs879460868	0.0002	0.0009	0.0002	0.0002	0.0018	0.0002	0.0002	0.0008	0.0006	0.0002	0.0002	0.0003	2.861e-05	0.0004	0.0018	0.0002	0.0002	8.979e-05	0.0002	0.0007	0.0002	0.0003	0.0005	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0005	0	0	0.0002	0	0.0002	0.0008	0	0.006	0.61437	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.47130	T	-0.22	0.10480	N	0.029	0.01004	-1.0550	0.13040	T	0.041	0.17573	T	8	0.0060595274	0.00136	T	7.06E-4	0.00435	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.0013862887263178488	0.00127	.	.	0.480499744415	0.36125	T	.	.	.	-0.334995	0.05743	T	-0.718973	0.04846	T	0.00599053286477247	0.00066	T	0.487551	0.14930	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31608	B	.;.	.;.	-0.381201	0.02283	0.238	0.29312650245332855	0.01548	0.00026	0.00253	N	AEFBI	0.040979	0.06170	N	-1.21669360863065	0.04757	0.2153945	-1.36156097678698	0.03672	0.1717444	1.37229785910317E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.743	-0.753	0.10510	-0.408000	0.07232	-0.875000	0.07087	-2.074000	0.00407	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.343:0.0:0.657:0.0	3.955	0.08880	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026744	0.053571	0.021552	0.023810	0.000000	0.000000	0.018750	0.000000	0.02632	630.33	553	chr3	195780658	.	A	G	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.097;DP=6527;ExcessHet=0;FS=11.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-6.479;QD=1.71;ReadPosRankSum=3.85;SOR=1.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:366,0:366:99:.:.:0,120,1800:.	18	0	1	0
chr3	195780693	195780693	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G10887C:p.Q3629H,MUC4:NM_001322468:exon13:c.G9639C:p.Q3213H	.	432	1065	23	0	2	25	0.0106828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000797059051977	.	.	0.0009	0.0035	0	0	0	0.0015	0	0.0004	0.0001537	4	26028	rs71187741	8.731e-05	0.0010	8.09e-05	9.39e-05	0.0004	7.398e-05	6.882e-05	0.0002	0.0002	0.0004	0.0004	0	0	2.289e-05	0	8.171e-05	0.0001	3.911e-05	0.0002	0.0010	0.0002	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0008	0	0	0	0	0.0002	0.0011	0	0.335	0.16683	T	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.23529	N	.	.	.	1.44	0.35219	T	-0.3	0.11913	N	0.034	0.00942	-0.9998	0.29973	T	0.048	0.20434	T	8	0.004631281	0.00097	T	7.97E-4	0.00629	T	0.033	0.08068	0.127	0.03251	0.0138822411134	0.00435	0.009704117481466185	0.00932	.	.	0.490210533142	0.37467	T	.	.	.	-0.377653	0.03223	T	-0.780249	0.02446	T	0.00129230059404023	0.00013	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19598	B	.;.	.;.	-0.004473	0.04251	1.053	0.31744035902742451	0.01804	0.00006	0.00120	N	AEFBI	0.024324	0.01488	N	-1.81233255103216	0.00516	0.02219699	-1.89846433722479	0.00493	0.02184563	2.35175023955934E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-3.002000	0.00716	-3.500000	0.02739	-1.935000	0.00495	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3252:0.6748:0.0	6.114	0.19336	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021863	0.052941	0.020958	0.014286	0.000000	0.015152	0.025773	0.015152	0.02778	271.71	553	chr3	195780693	.	C	G	271.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.382;DP=6655;ExcessHet=0;FS=10.04;InbreedingCoeff=-0.0413;MLEAC=1;MLEAF=0.028;MQ=48.14;MQRankSum=-5.147;QD=0.7;ReadPosRankSum=-6.454;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:366,0:366:99:.:.:0,120,1800:.	17	0	1	1
chr3	195780706	195780706	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10874T:p.A3625V,MUC4:NM_001322468:exon13:c.C9626T:p.A3209V	.	435	1067	19	0	1	20	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000822420040839	.	.	0.0005	0	0	0	0	0.0013	0	0	.	.	.	rs867391165	4.323e-06	0.0003	1.422e-06	7.303e-06	3.798e-05	1.56e-06	1.02e-06	1.009e-05	4.8e-06	0	0	0	0	0	0	1.861e-06	1.742e-05	3.798e-05	9.431e-06	0.0004	0	1.955e-05	5.045e-05	0	0	.	.	5.045e-05	0	0	0	0	0	0	0	0	0	0.088	0.32296	T	0.087	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	0.27	0.05125	N	0.033	0.00882	-1.0115	0.26447	T	0.039	0.16806	T	8	0.018132657	0.00392	T	8.22E-4	0.00670	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.0016526067618037664	0.00153	.	.	0.461363464594	0.33498	T	.	.	.	-0.394458	0.02517	T	-0.804388	0.01795	T	0.0143684729092892	0.00288	T	0.655434	0.26547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.;.	.;.	0.186944	0.05738	2.181	0.9607270479013057	0.28629	0.00026	0.00253	N	AEFBI	0.047837	0.08098	N	-1.87978236223019	0.00378	0.01623157	-1.97814973378812	0.00340	0.01503316	1.32161766167243E-4	0.05486	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.03	-1.02	0.09618	-1.659000	0.02077	-2.240000	0.04011	-1.695000	0.00765	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3669:0.0:0.6331:0.0	6.571	0.21735	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021033	0.047059	0.021341	0.014286	0.000000	0.015152	0.015625	0.022388	0.02632	175.33	553	chr3	195780706	.	G	A	175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.234;DP=6604;ExcessHet=0;FS=14.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.67;MQRankSum=-4.793;QD=0.46;ReadPosRankSum=-7.563;SOR=1.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:366,0:366:99:.:.:0,120,1800:.	18	0	1	0
chr3	195780850	195780850	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T10730C:p.V3577A,MUC4:NM_001322468:exon13:c.T9482C:p.V3161A	.	521	994	3	2	2	9	0.00350877	.	.	.	2825199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.000854863878711	.	.	0.0022	0.0037	0.0026	0	0.0017	0.0036	0.0051	0.0008	7.68e-05	2	26028	rs199985629	0.0005	0.0014	0.0004	0.0005	0.0022	0.0004	0.0004	0.0017	0.0015	0.0022	0.0012	0.0011	0	0.0018	0.0022	0.0004	0.0006	9.886e-05	0.0005	0.0020	0.0006	0.0005	0.0012	0.0004	0.0003	0.0006	0.0004	0.0009	0	0.0012	0	0.0005	0.0013	0	0.0003	0.0013	0	0.431	0.11550	T	0.609	0.07716	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.41750	T	-0.08	0.08187	N	0.091	0.06990	-1.0286	0.20908	T	0.049	0.21026	T	8	0.006213963	0.00140	T	8.55E-4	0.00734	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.009985721365206375	0.00960	.	.	0.525611162186	0.42416	T	.	.	.	-0.352167	0.04591	T	-0.74364	0.03739	T	0.000454941909993067	0.00004	T	0.513749	0.16498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38818	B	.;.	.;.	0.670734	0.10390	7.116	0.27272057659275267	0.01346	0.00042	0.00346	N	AEFBI	0.034446	0.04269	N	-1.35804104531052	0.03043	0.1352977	-1.47566198146687	0.02545	0.117244	2.66241609414398E-5	0.03498	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	1.02	-2.03	0.06959	0.044000	0.13876	-2.597000	0.03566	0.101000	0.17621	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.4907:0.2623:0.2471:0.0	2.740	0.04928	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042373	0.075949	0.033557	0.070588	0.166667	0.038462	0.008850	0.000000	0.05263	788.81	442	chr3	195780850	.	A	G	788.81	.	AC=2;AF=0.053;AN=38;DP=4063;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=29.3;QD=30.89;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:331,0:331:99:.:.:0,120,1800:.	18	1	0	0
chr3	195780885	195780891	CTGACCT	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10689_10695del:p.G3564Pfs*693,MUC4:NM_001322468:exon13:c.9441_9447del:p.V3148Tfs*351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.383e-07	6.963e-07	1.458e-06	0	.	0	0	.	.	0	0	0	0	2.077e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	557.77	474	chr3	195780884	.	CCTGACCT	C	557.77	.	AC=2;AF=0.053;AN=38;DP=4630;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=31.44;QD=31.57;SOR=2.147	GT:AD:DP:GQ:PL	0/0:367,0:367:99:0,120,1800	18	1	0	0
chr3	195780895	195780935	GATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10645_10685del:p.D3549Hfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.905e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	512.77	682	chr3	195780894	.	GGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	G	512.77	.	AC=2;AF=0.053;AN=38;DP=6718;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=31.92;QD=36.45;SOR=2.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:520,0:520:99:.:.:0,112,1800:.	18	1	0	0
chr3	195781207	195781207	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10373T:p.P3458L,MUC4:NM_001322468:exon12:c.C9173T:p.P3058L	.	432	1042	10	0	38	48	0.00477555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00120307283544	.	.	0.0006	0.0005	0	0	0.0012	0.0010	0	0	.	.	.	rs879759934	0.0011	0.0026	0.0011	0.0012	0.0053	0.0011	0.0011	0.0035	0.0030	0.0019	0.0009	0.0011	0.0002	0.0007	0.0053	0.0012	0.0010	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0001	9.857e-05	0.0001	9.874e-05	8.503e-05	0	0.0001	0	0	0.0004	0	0.0002	0	0.0002	0.013	0.53900	D	0.398	0.15206	T	.	.	.	.	.	.	.	.	.	.	1	0.21520	N	.	.	.	1.08	0.39401	T	0.1	0.06138	N	0.046	0.01825	-1.0168	0.24755	T	0.103	0.38019	T	8	0.02877155	0.01007	T	0.001203	0.01558	T	0.033	0.08068	0.159	0.06287	0.202086224978	0.19791	7.427820568819189E-4	0.00068	.	.	0.513316571712	0.40686	T	.	.	.	-0.285342	0.10110	T	-0.64765	0.09120	T	0.0210792842930623	0.00810	T	0.746025	0.37107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.36594	B	.;.	.;.	1.994383	0.25342	16.73	0.76875715862694394	0.11645	0.02620	0.07203	N	AEFBCI	0.055164	0.10093	N	-0.679693110555333	0.16601	0.8472753	-0.923299002498952	0.11544	0.5888008	4.84207045945908E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	0.743	0.743	0.17496	0.283000	0.18605	-0.221000	0.10763	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	1748.71	567	chr3	195781207	.	G	A	1748.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.991;DP=7014;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=55.32;MQRankSum=-2.03;QD=7.14;ReadPosRankSum=-2.34;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:472,0:472:99:.:.:0,120,1800:.	17	0	1	1
chr3	195781234	195781234	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10346T:p.A3449V,MUC4:NM_001322468:exon12:c.C9146T:p.A3049V	.	460	1029	28	2	3	35	0.015311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.000563479903346	.	.	0.0005	0.0027	0	0	0.0012	0.0003	0	0.0001	.	.	.	rs865988567	0.0002	0.0012	0.0002	0.0002	0.0031	0.0001	0.0001	0.0026	0.0024	0.0031	0.0004	0.0001	3.17e-05	6.908e-05	0.0003	7.206e-05	0.0003	0.0001	0.0003	0.0018	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	7.698e-05	0	0	0.0002	0	0.0001	0	0	0.369	0.11586	T	0.095	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32958	T	-0.7	0.19933	N	0.041	0.01421	-1.0086	0.27354	T	0.038	0.16591	T	8	0.012799859	0.00274	T	5.63E-4	0.00221	T	0.028	0.06331	.	.	0.0138822411134	0.00435	1.400514204918446E-4	0.00012	.	.	0.488370060921	0.37212	T	.	.	.	-0.369719	0.03608	T	-0.768852	0.02806	T	0.0145343560725451	0.00297	T	0.691131	0.30243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	-0.084122	0.03738	0.772	0.63688682330724611	0.07290	0.02188	0.06398	N	AEFBCI	0.058145	0.10887	N	-1.73849665328504	0.00714	0.03082306	-1.85502480068086	0.00599	0.02659145	2.27321539588462E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	0.743	-1.49	0.08259	-0.413000	0.07188	-1.144000	0.06200	-1.683000	0.00782	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.265:0.0:0.735:0.0	4.978	0.13495	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000687	0.000000	0.002008	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	666.58	540	chr3	195781234	.	G	A	666.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.66;DP=7854;ExcessHet=0.119;FS=13.702;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=56.7;MQRankSum=-2.231;QD=1;ReadPosRankSum=-4.172;SOR=2.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:486,0:486:99:.:.:0,120,1800:.	16	0	2	1
chr3	195781292	195781292	T	0	exonic	MUC4	.	.	.	.	432	934	41	0	115	156	0.0214772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18047.4	839	chr3	195781292	.	T	*	18047.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.323;DP=9717;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.26;MQRankSum=-4.562;QD=4.59;ReadPosRankSum=1.07;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	17	0	2	0
chr3	195781317	195781317	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	20244.4	887	chr3	195781317	.	G	*	20244.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=9881;ExcessHet=1.3;FS=0.572;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.7;MQRankSum=-5.349;QD=5.09;ReadPosRankSum=0.036;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	17	0	2	0
chr3	195781344	195781344	A	0	exonic	MUC4	.	.	.	.	429	1063	17	3	10	33	0.0107027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1174.26	863	chr3	195781344	.	A	*	1174.26	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.112;DP=10473;ExcessHet=0;FS=4.608;InbreedingCoeff=0.3697;MLEAC=1;MLEAF=0.031;MQ=58.36;MQRankSum=1.2;QD=1.13;ReadPosRankSum=-1.628;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	15	0	1	3
chr3	195781351	195781351	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10229A:p.P3410H,MUC4:NM_001322468:exon12:c.C9029A:p.P3010H	.	421	1076	13	2	10	27	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00121522304319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778132636	1.641e-05	0.0002	1.618e-05	1.665e-05	0.0002	1.074e-05	9.17e-06	6.518e-05	4.235e-05	0.0002	0	8.352e-05	0	0	0.0002	1.155e-05	3.61e-05	0	4.219e-05	0.0003	2.754e-05	5.748e-05	0.0001	1.815e-05	1.195e-05	3.521e-05	2.13e-05	0.0001	0	7.051e-05	0	0	0	0	1.565e-05	0	0	0.022	0.48642	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.37910	T	-0.57	0.17210	N	0.038	0.02462	-1.0385	0.17771	T	0.084	0.32729	T	8	0.099711806	0.18113	T	0.001215	0.01583	T	0.016	0.02506	.	.	0.0551355673512	0.04727	4.5752884900895235E-4	0.00041	.	.	0.471931934357	0.34946	T	.	.	.	-0.317217	0.07128	T	-0.693436	0.06192	T	0.0713543837680392	0.08840	T	0.535446	0.17943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32128	B	.;.	.;.	1.907809	0.24231	16.32	0.85416962964254128	0.15879	0.03420	0.08548	N	AEFBCI	0.065392	0.12753	N	-0.699385715415552	0.16039	0.8137034	-0.949231515902597	0.10941	0.5543254	3.0968326685005E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.137000	0.15816	0.921000	0.22704	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.016000	0.10718	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	922.91	863	chr3	195781351	.	G	T	922.91	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.563;DP=10507;ExcessHet=0;FS=4.834;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=58.56;MQRankSum=1.16;QD=0.9;ReadPosRankSum=-1.583;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	18	1	0	0
chr3	195781351	195781351	G	0	exonic	MUC4	.	.	.	.	421	1076	13	2	10	27	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	922.91	863	chr3	195781351	.	G	*	922.91	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.563;DP=10507;ExcessHet=0;FS=4.834;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=1.16;QD=0.9;ReadPosRankSum=-1.583;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	18	0	1	0
chr3	195781359	195781361	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10219_10221del:p.M3407del,MUC4:NM_001322468:exon12:c.9019_9021del:p.A3007_A4615delinsSSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	420	1086	11	2	3	18	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.531e-05	0	0	0	0	0	0	0.0003	.	.	.	rs762698074	9.696e-06	0.0001	8.824e-06	1.059e-05	0.0002	5.41e-06	4.17e-06	2.8e-06	1.8e-06	3.36e-05	2.958e-05	4.178e-05	0	0	0.0002	6.736e-06	3.61e-05	0	4.909e-05	0.0003	4.118e-05	5.734e-05	0.0001	2.237e-05	1.609e-05	3.533e-05	2.138e-05	0.0001	0	0	0	0	0	0	3.113e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	445.69	863	chr3	195781358	.	GCAT	G	445.69	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.036;DP=10442;ExcessHet=0;FS=0;InbreedingCoeff=0.1006;MLEAC=1;MLEAF=0.028;MQ=38.54;MQRankSum=1.75;QD=34.84;ReadPosRankSum=-1.645;SOR=2.147	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	17	0	1	1
chr3	195781366	195781366	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A10214C:p.D3405A,MUC4:NM_001322468:exon12:c.A9014C:p.D3005A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000692495189344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.706e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.058e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.877	0.03268	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30401	T	-0.55	0.16799	N	0.041	0.01421	-1.0006	0.29746	T	0.034	0.14596	T	8	0.07409394	0.11280	T	6.92E-4	0.00418	T	0.025	0.05312	0.195	0.10705	0.0138822411134	0.00435	5.30653042009119E-4	0.00049	.	.	0.471520483494	0.34889	T	.	.	.	-0.339195	0.05444	T	-0.725006	0.04557	T	0.0493263217484399	0.05381	T	0.79972	0.44511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40489	B	.;.	.;.	1.511447	0.19414	14.25	0.94428839671675879	0.24842	0.00421	0.02078	N	AEFBCI	0.047331	0.07959	N	-1.25866060542241	0.04186	0.18848	-1.34570518675769	0.03856	0.1807618	1.23241025634707E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.489000	0.06570	-3.451000	0.02777	0.091000	0.17597	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.4186:0.5813	3.501	0.07234	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	193.71	1065	chr3	195781366	.	T	G	193.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.319;DP=10707;ExcessHet=0;FS=0;InbreedingCoeff=-0.0384;MLEAC=1;MLEAF=0.028;MQ=32.47;MQRankSum=1.38;QD=32.29;ReadPosRankSum=-1.15;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:639,0:639:99:.:.:0,120,1800:.	17	0	1	1
chr3	195781486	195781486	-	CGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10093_10094insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.T3364_G3365insDTSSASTGHATPLPVT,MUC4:NM_001322468:exon12:c.8893_8894insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.G2965_A4615delinsDTSSASTGHATPLPVTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	419	1084	11	6	2	25	0.0104975	.	.	.	3185992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.0008	0.0115	0	0.0005	0.0085	0.0037	0.0046	0.0001537	4	26028	rs780551832	0.0069	0.0087	0.0067	0.0070	0.0137	0.0067	0.0067	0.0109	0.0100	0.0042	0.0113	0.0123	0.0005	0.0034	0.0137	0.0072	0.0094	0.0030	0.0034	0.0072	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0046	0.0010	0	0.0044	0.0064	0	0.0007	0	0.0053	0.0059	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5503.77	679	chr3	195781486	.	C	CCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	5503.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.6;DP=9342;ExcessHet=0;FS=1.338;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=53.52;MQRankSum=1.92;QD=31.55;ReadPosRankSum=-0.159;SOR=0.712	GT:AD:DP:GQ:PL	0/0:639,0:639:99:0,120,1800	18	1	0	0
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3437.39	679	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	3437.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.22;DP=9158;ExcessHet=0.7564;FS=3.274;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.05;MQRankSum=-9.668;QD=1.05;ReadPosRankSum=-3.2;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,55:724:99:0|1:195781522_A_G:209,0,27596:195781522	15	0	4	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	354.08	679	chr3	195781535	.	C	*	354.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.668;DP=9232;ExcessHet=1.3;FS=3.311;InbreedingCoeff=-0.1692;MLEAC=4;MLEAF=0.111;MQ=58.31;MQRankSum=-16.18;QD=0.09;ReadPosRankSum=-5.596;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,55:724:99:0|1:195781522_A_G:209,0,27596:195781522	14	0	4	1
chr3	195781555	195781555	-	CC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.10024_10025insGG:p.T3342Rfs*918,MUC4:NM_001322468:exon12:c.8824_8825insGG:p.S2942Rfs*560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673	0.0116	0.0319	0.0508	0.1072	0.0441	0.1087	0.1044	.	.	.	rs767488255	3.671e-05	0.0020	3.447e-05	3.903e-05	0.0003	2.783e-05	2.478e-05	5.335e-05	3.146e-05	0.0002	6.518e-05	4.921e-05	3.324e-05	0.0003	0.0003	1.933e-05	0.0001	0	0.0008	0.0046	0.0007	0.0010	0.0018	0.0007	0.0007	0.0010	0.0007	0.0010	0	0.0009	0.0006	0.0018	0.0015	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	109.65	679	chr3	195781555	.	G	GCC	109.65	.	AC=1;AF=0.031;AN=32;DP=8430;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.031;MQ=56.05;QD=0.06;SOR=1.1	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:512,0:512:0:.:.:0,0,12648:.	15	0	1	3
chr3	195781555	195781555	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	109.65	679	chr3	195781555	.	G	*	109.65	.	AC=2;AF=0.063;AN=32;DP=8430;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=56.05;QD=0.06;SOR=1.1	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:512,0:512:0:.:.:0,0,12648:.	14	0	2	3
chr3	195781558	195781559	TC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10021_10022del:p.D3341Hfs*32,MUC4:NM_001322468:exon12:c.8821_8822del:p.T2941Qfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0681	0.0117	0.0346	0.0520	0.1081	0.0448	0.1087	0.1052	.	.	.	rs760242746	4.615e-05	0.0025	4.469e-05	4.764e-05	0.0005	3.567e-05	3.224e-05	0.0003	0.0002	0.0005	6.619e-05	0	3.409e-05	0.0004	0.0003	2.124e-05	8.638e-05	0	0.0007	0.0048	0.0006	0.0008	0.0018	0.0006	0.0005	0.0009	0.0007	0.0008	0	0.0009	0.0007	0.0018	0.0014	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	30.65	679	chr3	195781557	.	GTC	G	30.65	.	AC=1;AF=0.031;AN=32;DP=8414;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.031;MQ=55.86;QD=0.02;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:512,0:512:0:.:.:0,0,12648:.	15	0	1	3
chr3	195781557	195781559	GTC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	30.65	679	chr3	195781557	.	GTC	*	30.65	.	AC=2;AF=0.063;AN=32;DP=8414;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=2;MLEAF=0.063;MQ=55.86;QD=0.02;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:512,0:512:0:.:.:0,0,12648:.	14	0	2	3
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:458,59:569:99:.:.:972,0,20721:.	7	0	10	2
chr3	195781607	195781703	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	0	exonic	MUC4	.	.	.	.	455	767	10	10	280	310	0.0191816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5738.6	732	chr3	195781607	.	GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC	*	5738.6	.	AC=3;AF=0.167;AN=18;DP=7165;ExcessHet=0.0506;FS=4.874;InbreedingCoeff=-0.0857;MLEAC=5;MLEAF=0.278;MQ=52.52;MQRankSum=1.54;QD=3.34;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:418,0:418:0:.:.:0,0,9519:.	6	0	3	10
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:239,59:441:99:.:.:5118,3248,14673:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,211:396:99:.:.:14318,5884,6871:.	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:271,0:271:0:.:.:0,0,0:.	5	2	3	9
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H	.	536	587	364	31	4	430	0.26625	.	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.125	11129.9	626	chr3	195781645	.	G	T	11129.9	.	AC=2;AF=0.125;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=4;MLEAF=0.25;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:271,0:271:0:.:.:0,0,0:.	7	1	0	11
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	11129.9	626	chr3	195781645	.	G	*	11129.9	.	AC=5;AF=0.313;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=9;MLEAF=0.563;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:271,0:271:0:.:.:0,0,0:.	5	2	1	11
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:271,0:271:0:.:.:0,0,0:.	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:271,0:271:0:.:.:0,0,0:.	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,103:266:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2043,0,6442:195781775	7	1	10	1
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001754	0.000000	0.015625	0.008929	0.000000	0.000000	0.000000	0.000000	0.02941	2566.14	312	chr3	195781996	.	G	A	2566.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.469;DP=3293;ExcessHet=0;FS=10.588;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=38.18;MQRankSum=2.47;QD=8.85;ReadPosRankSum=-0.72;SOR=1.26	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:356,0:356:0:.:.:0,0,3045:.	16	0	1	2
chr3	195782158	195782158	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9422A:p.S3141N	.	429	1080	8	0	5	13	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00413666342871	.	.	0.0020	0.0067	0.0053	0.0053	0.0011	0.0023	0	0.0006	0.0003363	52	154602	rs746330856	0.0002	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0006	0.0005	0.0009	0.0003	0.0004	0.0003	0.0006	0.0014	0.0002	0.0004	0.0003	0.0009	0.0041	0.0010	0.0009	0.0021	0.0008	0.0007	0.0016	0.0014	0.0021	0	0.0009	0.0006	0.0005	0.0002	0	0.0005	0	0.0005	0.06	0.37326	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.75	0.21003	N	0.055	0.02658	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0050902963	0.00110	T	0.004137	0.09931	T	0.009	0.00846	.	.	0.0138822411134	0.00435	3.115421126634219E-4	0.00028	.	.	0.588040709496	0.51217	T	.	.	.	-0.376137	0.03295	T	-0.778071	0.02512	T	0.0141998693782046	0.00280	T	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33273	B	.;.	.;.	-0.286937	0.02674	0.344	0.7398967156372207	0.10529	0.00110	0.00700	N	AEFBI	0.069643	0.13794	N	-1.26842644718318	0.04062	0.1826157	-1.3993107211073	0.03260	0.1516938	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.244000	0.08921	-4.607000	0.02072	-3.157000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.066778	0.117647	0.018817	0.016304	0.000000	0.029412	0.068966	0.063218	0.03846	218.07	622	chr3	195782158	.	C	T	218.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-4.278;DP=7395;ExcessHet=0;FS=1.063;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.038;MQ=57.15;MQRankSum=-10.13;QD=0.4;ReadPosRankSum=7.46;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:451,0:451:99:.:.:0,120,1800:.	12	0	1	6
chr3	195782159	195782159	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9421G:p.S3141G	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00399215593514	.	.	0.0021	0.0067	0.0050	0.0053	0.0011	0.0025	0	0.0006	0.0001164	18	154602	rs878957136	0.0003	0.0012	0.0002	0.0003	0.0026	0.0002	0.0002	0.0013	0.0009	0.0007	0.0005	0.0003	0.0002	0.0005	0.0026	0.0002	0.0004	0.0004	0.0007	0.0036	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0012	0	0.0008	0.0005	0	0.0002	0	0.0005	0	0.0004	0.107	0.29554	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31987	T	-0.95	0.25332	N	0.045	0.01740	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0053928494	0.00118	T	0.003992	0.09462	T	0.009	0.00846	.	.	0.0138822411134	0.00435	2.4761697068474513E-4	0.00022	.	.	0.552296519279	0.46182	T	.	.	.	-0.351777	0.04616	T	-0.74308	0.03762	T	0.0136572361789874	0.00254	T	0.471053	0.13966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	-0.357385	0.02376	0.261	0.36881785549618518	0.02398	0.00372	0.01892	N	AEFBI	0.070461	0.13989	N	-1.21758775206701	0.04744	0.214791	-1.34443261781201	0.03871	0.1815001	1.39184038827566E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.121000	0.10618	-2.585000	0.03580	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	3.621	0.07637	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.064167	0.117647	0.010870	0.016129	0.000000	0.029412	0.068966	0.068966	0.03571	211.5	641	chr3	195782159	.	T	C	211.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-5.584;DP=7411;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=57.3;MQRankSum=-10.71;QD=0.38;ReadPosRankSum=6.62;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:451,0:451:99:.:.:0,120,1800:.	13	0	1	5
chr3	195782200	195782200	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9380A:p.S3127Y	.	426	1061	7	0	28	35	0.00328793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0093742069722	.	.	0.0010	0.0051	0	0.0032	0.0006	0.0009	0	0.0004	.	.	.	rs757354628	1.935e-05	6.326e-05	1.742e-05	2.135e-05	0.0003	1.309e-05	1.1e-05	0.0001	0.0001	0.0002	0	0	0.0003	0	0.0003	7.139e-06	4.163e-05	2.882e-05	4.931e-05	0.0003	4.121e-05	5.784e-05	7.923e-05	2.247e-05	1.615e-05	2.1e-05	1.082e-05	7.923e-05	0	7.193e-05	0	0	0	0	4.644e-05	0	0	0.001	0.78490	D	0.028	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.37	0.34253	T	-1.12	0.28906	N	0.098	0.07949	-1.0471	0.15217	T	0.054	0.22959	T	7	0.014383912	0.00303	T	0.009374	0.24577	T	0.098	0.28162	.	.	0.1749357433	0.17121	1.0570646054035391E-4	0.00009	.	.	0.595713615417	0.52299	T	.	.	.	-0.240659	0.15265	T	-0.583466	0.14236	T	0.115360602736473	0.13971	T	0.884312	0.60710	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.57829	A	.;.	.;.	1.835683	0.23322	15.97	0.66572446463117263	0.08098	0.20911	0.21213	N	AEFBI	0.167029	0.29367	N	-0.725015443842149	0.15320	0.7710517	-0.925726695320293	0.11488	0.5855354	4.08127828342176E-4	0.06860	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	-0.318000	0.09987	-1.062000	0.01615	0.303000	0.25352	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033594	0.064706	0.005102	0.000000	0.000000	0.000000	0.036290	0.030928	0.03125	277.55	600	chr3	195782200	.	G	T	277.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.743;DP=7713;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.56;MQRankSum=-14.79;QD=0.51;ReadPosRankSum=-2.606;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:451,0:451:99:.:.:0,120,1800:.	15	0	1	3
chr3	195782353	195782356	GTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.9224_9227del:p.V3075Afs*1183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3278.29	731	chr3	195782352	.	GGTGA	G	3278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.04;DP=7962;ExcessHet=0;FS=4.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.64;MQRankSum=-6.008;QD=5.13;ReadPosRankSum=0.308;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:472,0:472:99:.:.:0,120,1800:.	18	0	1	0
chr3	195782358	195782449	AGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.9131_9222del:p.T3044Sfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2172.04	731	chr3	195782357	.	CAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGG	C	2172.04	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=8100;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.89;MQRankSum=-7.317;QD=5.39;ReadPosRankSum=-2.678;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:472,0:472:99:.:.:0,120,1800:.	18	0	1	0
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	236.02	625	chr3	195782411	.	G	C	236.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.64;DP=7570;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-3.478;QD=0.19;ReadPosRankSum=-4.439;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:472,0:472:99:.:.:0,120,1800:.	17	0	2	0
chr3	195782411	195782411	G	0	exonic	MUC4	.	.	.	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.02	625	chr3	195782411	.	G	*	236.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.64;DP=7570;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=-3.478;QD=0.19;ReadPosRankSum=-4.439;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:472,0:472:99:.:.:0,120,1800:.	18	0	1	0
chr3	195782416	195782416	T	0	exonic	MUC4	.	.	.	.	469	990	7	0	56	63	0.0035229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	168.07	642	chr3	195782416	.	T	*	168.07	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.85;DP=7506;ExcessHet=0.4139;FS=0;InbreedingCoeff=-0.1462;MLEAC=2;MLEAF=0.125;MQ=56.8;MQRankSum=-8.486;QD=0.14;ReadPosRankSum=-5.271;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:476,0:476:0:.:.:0,0,9924:.	7	0	1	11
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6615.26	804	chr3	195782507	.	G	*	6615.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.789;DP=8144;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=55.73;MQRankSum=-6.257;QD=2.61;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:502,0:502:99:.:.:0,120,1800:.	14	2	3	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:70,182:444:99:1|0:195782548_ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT_A:11192,3546,13142:195782548	7	0	6	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2111.23	845	chr3	195782572	.	A	*	2111.23	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.65;DP=9235;ExcessHet=2.2993;FS=0;InbreedingCoeff=-0.2677;MLEAC=7;MLEAF=0.35;MQ=54.73;MQRankSum=-9.794;QD=0.84;ReadPosRankSum=-2.64;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,182:454:99:0|1:195782557_G_*:5250,0,16044:195782557	5	0	5	9
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:107,182:391:99:9481,3890,13373	6	0	6	7
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	./.:533,0:533:0:0,0,3543	6	0	5	8
chr3	195782692	195782692	A	0	exonic	MUC4	.	.	.	.	437	963	105	8	9	130	0.0591109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2334.76	898	chr3	195782692	.	A	*	2334.76	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-3.519;DP=9868;ExcessHet=0.0506;FS=1.163;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.208;MQ=52.78;MQRankSum=-4.59;QD=2.55;ReadPosRankSum=-5.129;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:728,0:728:0:.:.:0,0,15661:.	9	1	2	7
chr3	195782702	195782702	A	0	exonic	MUC4	.	.	.	.	483	896	103	8	32	151	0.0622711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6391.2	942	chr3	195782702	.	A	*	6391.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.125;DP=10537;ExcessHet=0.1504;FS=1.785;InbreedingCoeff=-0.1296;MLEAC=6;MLEAF=0.3;MQ=52.53;MQRankSum=-3.271;QD=3.76;ReadPosRankSum=-0.193;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:763,0:763:0:.:.:0,0,8780:.	7	1	2	9
chr3	195782760	195782807	ACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8773_8820del:p.Q2925_G2940del,MUC4:NM_001322468:exon8:c.8101_8148del:p.P2703_A4615delinsTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.807e-05	3.779e-05	1.236e-05	2.397e-05	1.995e-05	1.203e-05	1.005e-05	1.303e-05	1.059e-05	0	0	9.158e-05	0	0	0	1.995e-05	0	1.53e-05	2.435e-05	0.0001	2.37e-05	2.504e-05	9.66e-05	4.04e-06	1.51e-06	1.697e-05	6.97e-06	9.66e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1009.67	978	chr3	195782759	.	CACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTG	C	1009.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.74;DP=11266;ExcessHet=0;FS=6.542;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=42.74;MQRankSum=1.71;QD=20.61;ReadPosRankSum=-2.661;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:799,0:799:99:.:.:0,120,1800:.	17	0	1	1
chr3	195782770	195782770	A	0	exonic	MUC4	.	.	.	.	420	1086	13	0	3	16	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	172.79	978	chr3	195782770	.	A	*	172.79	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.69;DP=11264;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=1;MLEAF=0.028;MQ=42.36;MQRankSum=-0.242;QD=3.84;ReadPosRankSum=-1.218;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:799,0:799:99:.:.:0,120,1800:.	17	0	1	1
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	16430.2	849	chr3	195782949	.	A	*	16430.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.824;DP=11095;ExcessHet=0;FS=3.826;InbreedingCoeff=0.4035;MLEAC=2;MLEAF=0.2;MQ=56.53;MQRankSum=2.53;QD=15.14;ReadPosRankSum=0.951;SOR=0.625	GT:AD:DP:GQ:PL	./.:766,0:766:0:0,0,0	4	0	1	14
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55,MUC4:NM_001322468:exon8:c.7888_7889del:p.Q2630Gfs*32	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6698.88	493	chr3	195783018	.	AGC	A	6698.88	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2;DP=8800;ExcessHet=0.3892;FS=0;InbreedingCoeff=0.0686;MLEAC=1;MLEAF=0.028;MQ=54.08;MQRankSum=9.63;QD=5.25;ReadPosRankSum=-1.705;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	17	0	1	1
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6698.88	493	chr3	195783018	.	AGC	*	6698.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2;DP=8800;ExcessHet=0.3892;FS=0;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=54.08;MQRankSum=9.63;QD=5.25;ReadPosRankSum=-1.705;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	16	0	2	1
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6522.88	493	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	T	6522.88	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.02;DP=8396;ExcessHet=0.3892;FS=0.53;InbreedingCoeff=0.0686;MLEAC=1;MLEAF=0.028;MQ=55.23;MQRankSum=6.95;QD=4.46;ReadPosRankSum=-1.243;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	17	0	1	1
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6522.88	493	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*	6522.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.02;DP=8396;ExcessHet=0.3892;FS=0.53;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=55.23;MQRankSum=6.95;QD=4.46;ReadPosRankSum=-1.243;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	16	0	2	1
chr3	195783057	195783057	T	0	exonic	MUC4	.	.	.	.	0	207	1	0	18	19	0.00240964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	859.77	493	chr3	195783057	.	T	*	859.77	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.43;DP=8169;ExcessHet=0.8031;FS=0.56;InbreedingCoeff=-0.1091;MLEAC=4;MLEAF=0.143;MQ=55.83;MQRankSum=-6.533;QD=0.53;ReadPosRankSum=5.71;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:321,0:401:99:0|1:195783057_T_C:871,1016,14266:195783057	11	0	3	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10805.8	355	chr3	195783068	.	G	*	10805.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=2.51;DP=7610;ExcessHet=1.4758;FS=5.085;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.22;MQRankSum=-10.42;QD=3.69;ReadPosRankSum=-2.88;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:234,0:301:99:0|1:195783068_G_T:2086,2806,12696:195783068	8	0	4	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10736.8	358	chr3	195783070	.	A	*	10736.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=3.79;DP=7581;ExcessHet=1.4758;FS=7.09;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.3;MQRankSum=-10.39;QD=3.64;ReadPosRankSum=-2.999;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:239,0:306:99:0|1:195783068_G_T:2073,2796,12816:195783068	8	0	4	7
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	5203.28	458	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*	5203.28	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-0.194;DP=7760;ExcessHet=0.856;FS=1.163;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.038;MQ=56.91;MQRankSum=-3.105;QD=3.1;ReadPosRankSum=2.52;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:298,0:298:99:.:.:0,120,1800:.	12	0	1	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	92777.8	319	chr3	195783084	.	A	*	92777.8	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.675;DP=7548;ExcessHet=0.007;FS=2.736;InbreedingCoeff=0.437;MLEAC=4;MLEAF=0.125;MQ=57.31;MQRankSum=7.15;QD=22.91;ReadPosRankSum=3.08;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:254:99:.:.:7576,7676,10048:.	12	0	4	3
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:214,0:268:99:0|1:195783068_G_T:1623,2264,10676:195783068	8	0	6	5
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	108773.0	320	chr3	195783093	.	A	*	108773.0	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.349;DP=7624;ExcessHet=0.0275;FS=3.375;InbreedingCoeff=0.3644;MLEAC=5;MLEAF=0.179;MQ=57.42;MQRankSum=4.92;QD=23.07;ReadPosRankSum=3.47;SOR=0.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:294:99:.:.:8718,8883,11222:.	10	0	4	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:285,0:314:99:.:.:394,1223,11440:.	6	0	5	8
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	329.52	321	chr3	195783105	.	C	*	329.52	.	AC=4;AF=0.154;AN=26;BaseQRankSum=4.36;DP=7378;ExcessHet=1.7113;FS=6.552;InbreedingCoeff=0.0048;MLEAC=5;MLEAF=0.192;MQ=57.33;MQRankSum=-7.859;QD=0.2;ReadPosRankSum=3.55;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:288,0:316:99:0|1:195783068_G_T:340,1179,11465:195783068	9	0	4	6
chr3	195783223	195783271	TGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAG	0	exonic	MUC4	.	.	.	.	485	951	12	3	71	89	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	249.25	466	chr3	195783223	.	TGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAG	*	249.25	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.18;DP=4859;ExcessHet=0;FS=18.036;InbreedingCoeff=0.5379;MLEAC=2;MLEAF=0.059;MQ=40.74;MQRankSum=-2.261;QD=1.07;ReadPosRankSum=-2.324;SOR=0.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:240,0:240:99:.:.:0,120,1800:.	16	1	0	2
chr3	195783271	195783271	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8309A:p.P2770H	.	420	1087	7	1	7	16	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.0319489	0.0018	0.0005	0	0	0	0.0005	0	0.0048	0.0061472	160	26028	rs879938832	0.0002	0.0011	0.0002	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0.0005	0.0002	8.396e-05	0	6.373e-05	0	0.0001	0.0002	0.0016	0.0006	0.0022	0.0006	0.0005	0.0057	0.0004	0.0004	0.0039	0.0033	0.0009	0	0.0004	0	0.0002	0.0004	0	0.0001	0	0.0057	0.239	0.17761	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.19	0.41392	T	-0.27	0.17210	N	0.1	0.08227	-1.0551	0.13013	T	0.036	0.15596	T	8	0.004978657	0.00107	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	3.386297374527492E-5	0.00003	.	.	0.55265724659	0.46233	T	.	.	.	-0.340036	0.05386	T	-0.726215	0.04501	T	0.0298220855379801	0.01962	T	0.583442	0.21195	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29228	B	.;.	.;.	2.047488	0.26028	16.97	0.8677383761751003	0.16763	0.00574	0.02597	N	AEFBI	0.067239	0.13209	N	-1.0408149609539	0.07769	0.3620234	-1.24139812211855	0.05259	0.2501762	2.38810058409634E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-0.304000	0.08238	-0.559000	0.08487	0.221000	0.18078	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2569:0.0:0.4299:0.3132	1.857	0.02988	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	137.14	466	chr3	195783271	.	G	T	137.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.176;DP=4818;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=55.89;MQRankSum=-7.256;QD=0.79;ReadPosRankSum=4.39;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:240,0:240:99:.:.:0,120,1800:.	16	0	1	2
chr3	195783311	195783311	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8269A:p.D2757N	.	425	1077	4	1	15	21	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0019	0.0169	0	0.0064	0	0.0002	0	0.0006	0.0002652	41	154602	rs58408822	0.0006	0.0016	0.0006	0.0007	0.0023	0.0006	0.0006	0.0019	0.0017	0.0023	0.0023	0.0008	0.0017	0.0005	0.0003	0.0004	0.0009	0.0020	0.0022	0.0059	0.0021	0.0023	0.0049	0.0019	0.0018	0.0042	0.0039	0.0049	0	0.0021	0.0009	0.0015	0.0027	0	0.0009	0	0.0030	0.087	0.43708	T	0.353	0.17425	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.31470	T	-0.3	0.11913	N	0.028	0.01825	-0.9984	0.30367	T	0.029	0.12365	T	8	0.004288763	0.00086	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	1.3812347566698146E-5	0.00001	.	.	0.574782729149	0.49352	T	.	.	.	-0.420389	0.01700	T	-0.841636	0.01074	T	0.00881340839730039	0.00109	T	0.889511	0.62170	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	1.280743	0.16803	12.77	0.93219075986132272	0.22895	0.00023	0.00238	N	AEFBI	0.039733	0.05813	N	-1.42363924912042	0.02432	0.1073949	-1.51431325299676	0.02234	0.1024184	1.42165787645841E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.589	0.11097	-1.570000	0.02244	-4.000000	0.02402	0.120000	0.17638	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4705:0.0:0.5295	4.148	0.09692	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004202	0.000000	0.007752	0.000000	0.000000	0.000000	0.003846	0.000000	0.02941	659.14	369	chr3	195783311	.	C	T	659.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.814;DP=3461;ExcessHet=0;FS=10.133;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=56.63;MQRankSum=-5.633;QD=2.76;ReadPosRankSum=10.85;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,111,1665:.	16	0	1	2
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4826.7	365	chr3	195783321	.	A	*	4826.7	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.524;DP=3197;ExcessHet=0;FS=3.209;InbreedingCoeff=0.3698;MLEAC=2;MLEAF=0.063;MQ=56.45;MQRankSum=-0.133;QD=11.69;ReadPosRankSum=6.33;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,111,1665:.	15	1	0	3
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	4909.15	363	chr3	195783323	.	G	*	4909.15	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-3.144;DP=3354;ExcessHet=0;FS=4.024;InbreedingCoeff=0.309;MLEAC=2;MLEAF=0.067;MQ=56.46;MQRankSum=-0.211;QD=12.21;ReadPosRankSum=7.28;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,111,1665:.	14	1	0	4
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	40.52	279	chr3	195783327	.	G	*	40.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.072;DP=2870;ExcessHet=0;FS=16.939;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=50.94;MQRankSum=-2.512;QD=0.34;ReadPosRankSum=-0.853;SOR=2.147	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,111,1665:.	18	1	0	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	97.0	279	chr3	195783332	.	T	*	97.0	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.89;DP=2758;ExcessHet=0.0101;FS=13.896;InbreedingCoeff=0.3847;MLEAC=2;MLEAF=0.056;MQ=48.8;MQRankSum=1.44;QD=0.66;ReadPosRankSum=-0.925;SOR=1.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:98:.:.:0,98,2167:.	17	1	0	1
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	54.31	279	chr3	195783335	.	C	*	54.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=2697;ExcessHet=0.0101;FS=17.156;InbreedingCoeff=0.446;MLEAC=2;MLEAF=0.053;MQ=48.63;MQRankSum=1.43;QD=0.41;ReadPosRankSum=0.139;SOR=1.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,99,1485:.	18	1	0	0
chr3	195783338	195783338	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8242T:p.G2748C	.	455	1007	2	0	58	60	0.000992063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000829727467245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.488e-05	4.903e-05	3.373e-05	3.605e-05	0.0001	2.573e-05	2.247e-05	5.908e-05	4.287e-05	0	6.527e-05	0	3.781e-05	5.163e-05	0	2.736e-05	4.544e-05	0.0001	0	2.421e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-0.68	0.21003	N	0.166	0.17553	-1.0283	0.21005	T	0.040	0.17277	T	8	0.07973048	0.12859	T	8.3E-4	0.00691	T	0.017	0.02790	0.228	0.15406	0.104622674875	0.10061	3.373903443510514E-5	0.00003	.	.	0.550686538219	0.45954	T	.	.	.	-0.317087	0.07139	T	-0.69325	0.06203	T	0.0756152001734978	0.09417	T	0.823618	0.48435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56876	A	.;.	.;.	1.876856	0.23837	16.17	0.92086116401981777	0.21435	0.00220	0.01242	N	AEFBI	0.088572	0.17956	N	-1.158922318391	0.05634	0.2573805	-1.25988911580476	0.04986	0.2365479	1.21477736443141E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.144	0.12783	-2.092000	0.01442	-3.442000	0.02784	0.120000	0.17638	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.3349:0.3894:0.0:0.2756	1.611	0.02531	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.54	279	chr3	195783338	.	C	A	1423.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.682;DP=2666;ExcessHet=0;FS=7.466;InbreedingCoeff=0.6297;MLEAC=1;MLEAF=0.026;MQ=53.91;MQRankSum=-4.13;QD=7.95;ReadPosRankSum=8.98;SOR=1.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:45:.:.:0,45,675:.	18	0	1	0
chr3	195783338	195783338	C	0	exonic	MUC4	.	.	.	.	455	1007	2	0	58	60	0.000992063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1423.54	279	chr3	195783338	.	C	*	1423.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.682;DP=2666;ExcessHet=0;FS=7.466;InbreedingCoeff=0.6297;MLEAC=2;MLEAF=0.053;MQ=53.91;MQRankSum=-4.13;QD=7.95;ReadPosRankSum=8.98;SOR=1.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:45:.:.:0,45,675:.	18	1	0	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12527.1	280	chr3	195783346	.	A	*	12527.1	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.493;DP=2707;ExcessHet=2.5225;FS=0;InbreedingCoeff=0.086;MLEAC=4;MLEAF=0.25;MQ=52.37;MQRankSum=-1.593;QD=18.45;ReadPosRankSum=0.546;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:34,0:34:0:.:.:0,0,0:.	7	1	0	11
chr3	195783354	195783354	-	GT	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.8225_8226insAC:p.S2743Lfs*262	.	2	202	1	0	21	22	0.00246914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0013	0.0007	0.0007	0.0061	0.0007	0.0006	0.0037	0.0030	0.0026	0.0007	0.0014	0.0004	0.0014	0.0061	0.0006	0.0014	0.0002	0.0001	0.0003	0.0001	9.938e-05	0.0003	5.598e-05	4.188e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	537.57	239	chr3	195783354	.	A	AGT	537.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.27;DP=1975;ExcessHet=0.0113;FS=21.369;InbreedingCoeff=0.3265;MLEAC=1;MLEAF=0.029;MQ=37.44;MQRankSum=2.87;QD=3.79;ReadPosRankSum=-0.834;SOR=2.383	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,310:.	16	0	1	2
chr3	195783354	195783354	A	0	exonic	MUC4	.	.	.	.	502	956	29	30	5	94	0.0444778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	537.57	239	chr3	195783354	.	A	*	537.57	.	AC=3;AF=0.088;AN=34;BaseQRankSum=3.27;DP=1975;ExcessHet=0.0113;FS=21.369;InbreedingCoeff=0.3265;MLEAC=3;MLEAF=0.088;MQ=37.44;MQRankSum=2.87;QD=3.79;ReadPosRankSum=-0.834;SOR=2.383	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,310:.	15	1	1	2
chr3	195783357	195783357	-	GGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.8222_8223insCACTTACTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACC:p.E2741Dfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0008	0.0019	0.0018	0.0174	0.0017	0.0016	0.0108	0.0087	0.0046	0.0022	0.0037	0.0011	0.0054	0.0174	0.0014	0.0042	0.0004	0.0006	0.0002	0.0006	0.0007	0.0017	0.0003	0.0002	0.0007	0.0004	0.0017	0	0.0014	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4679.71	226	chr3	195783357	.	C	CGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTG	4679.71	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=1904;ExcessHet=0.0234;FS=5.732;InbreedingCoeff=0.0733;MLEAC=2;MLEAF=0.143;MQ=47.81;MQRankSum=-0.674;QD=18.64;ReadPosRankSum=-0.967;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,310:.	6	0	1	12
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4679.71	226	chr3	195783357	.	C	*	4679.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.61;DP=1904;ExcessHet=0.0234;FS=5.732;InbreedingCoeff=0.0733;MLEAC=5;MLEAF=0.357;MQ=47.81;MQRankSum=-0.674;QD=18.64;ReadPosRankSum=-0.967;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,310:.	5	1	1	12
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1271.65	205	chr3	195783367	.	A	*	1271.65	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.909;DP=2296;ExcessHet=0;FS=11.24;InbreedingCoeff=0.2326;MLEAC=4;MLEAF=0.333;MQ=37.9;MQRankSum=-0.179;QD=11.25;ReadPosRankSum=2.84;SOR=2.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:13,0:15:45:1|0:195783285_G_A:45,84,630:195783285	5	1	0	13
chr3	195783415	195783415	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8165A:p.P2722H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000511194972926	.	.	0.0003	0	0	0.0029	0	0.0004	0	0	.	.	.	rs757915947	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0027	0.0025	0	0	0.0010	0.0033	0.0008	0.0006	7.44e-05	0.0006	0.0002	3.194e-05	0.0004	0	6.51e-05	0.0006	0	0	.	.	0	0	0	0	0.0006	0	0	0	0	0	0.189	0.23997	T	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.20292	N	.	.	.	1.48	0.31987	T	-0.42	0.20358	N	0.096	0.07673	-1.0016	0.29459	T	0.032	0.13898	T	6	0.010089844	0.00226	T	5.11E-4	0.00163	T	0.014	0.01968	0.19	0.10039	0.0297737177859	0.01360	8.704670884257128E-5	0.00007	.	.	0.542042016983	0.44734	T	.	.	.	-0.341949	0.05253	T	-0.728962	0.04374	T	0.0409642838981407	0.03865	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	1.363002	0.17722	13.33	0.3891870080358984	0.02654	0.00088	0.00587	N	AEFBI	0.034961	0.04420	N	-0.933277390823719	0.10070	0.4795295	-1.12522507782047	0.07221	0.3504127	1.81192519909741E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-1.38	0.08554	-3.524000	0.00493	-1.108000	0.06307	0.061000	0.17545	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.2797:0.0:0.3924:0.3279	1.629	0.02564	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003623	0.000000	0.020000	0.000000	0.000000	0.000000	0.000000	0.000000	0.0625	888.95	36	chr3	195783415	.	G	T	888.95	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.35;DP=720;ExcessHet=0.1424;FS=3.319;InbreedingCoeff=0.2166;MLEAC=2;MLEAF=0.063;MQ=43.34;MQRankSum=1.06;QD=15.6;ReadPosRankSum=1.16;SOR=0.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	14	0	2	3
chr3	195783428	195783428	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8152G:p.T2718A	.	597	866	30	28	1	87	0.0473047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.0237	0.0238	0.0833	0.0417	0.0076	0.0226	0.1364	0.0264	0.0005239	81	154602	rs749577790	0.0010	0.0025	0.0011	0.0009	0.0178	0.0009	0.0009	0.0156	0.0147	0.0178	0.0020	0.0013	0.0013	0.0004	0.0025	0.0006	0.0018	0.0006	0.0005	0.0020	0.0006	0.0005	0.0026	0.0003	0.0002	0.0011	0.0008	0.0026	0	0	0	0	0	0	0.0003	0	0	0.533	0.06957	T	0.021	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-0.25	0.11008	N	0.088	0.06587	-1.0018	0.29401	T	0.031	0.13330	T	6	0.004846126	0.00103	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	7.087951438264742E-5	0.00006	.	.	0.493092894554	0.37868	T	.	.	.	-0.380284	0.03103	T	-0.784028	0.02334	T	0.0124774696351845	0.00205	T	0.545645	0.18668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07177	B	.;.	.;.	0.114009	0.05128	1.655	0.30242050217476973	0.01644	0.00332	0.01732	N	AEFBI	0.043707	0.06942	N	-0.975987764756456	0.09118	0.4302547	-1.13514259483109	0.07037	0.3408692	1.82519108507176E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	-2.656000	0.00926	-1.039000	0.06521	-2.107000	0.00391	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	4.216	0.09993	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.013889	0.020833	0.000000	0.000000	0.000000	0.000000	0.000000	0.05882	244.87	36	chr3	195783428	.	T	C	244.87	.	AC=2;AF=0.059;AN=34;DP=711;ExcessHet=0;FS=10.072;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=36.84;QD=4.01;SOR=4.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	16	1	0	2
chr3	195783428	195783428	T	0	exonic	MUC4	.	.	.	.	597	866	30	28	1	87	0.0473047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	244.87	36	chr3	195783428	.	T	*	244.87	.	AC=2;AF=0.059;AN=34;DP=711;ExcessHet=0;FS=10.072;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=36.84;QD=4.01;SOR=4.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	16	1	0	2
chr3	195783431	195783431	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8149C:p.D2717H	.	606	857	30	28	1	87	0.0477778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	.	0.0339	0.1379	0.1111	0.0417	0.0090	0.0348	0.1364	0.0275	0.0006145	95	154602	rs867961643	0.0013	0.0030	0.0014	0.0013	0.0157	0.0013	0.0012	0.0135	0.0127	0.0157	0.0032	0.0019	0.0021	0.0006	0.0034	0.0008	0.0021	0.0015	0.0006	0.0021	0.0006	0.0006	0.0026	0.0003	0.0002	0.0010	0.0007	0.0026	0	0	0	0	0	0	0.0004	0	0	0.3	0.24661	T	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.48	0.31731	T	-0.37	0.13805	N	0.069	0.07262	-1.0452	0.15767	T	0.026	0.11353	T	6	0.0033222735	0.00057	T	.	.	.	0.010	0.01040	0.179	0.08626	0.0138822411134	0.00435	1.6551406321450152E-4	0.00014	.	.	0.543667495251	0.44963	T	.	.	.	-0.372147	0.03487	T	-0.77234	0.02692	T	0.0237382436057755	0.01113	T	0.70183	0.31167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27998	B	.;.	.;.	0.432875	0.08032	4.752	0.15393519927946278	0.00375	0.00086	0.00577	N	AEFBI	0.041390	0.06286	N	-1.75355711707499	0.00669	0.02886574	-1.93702347512985	0.00413	0.01825583	0.00154248320366266	0.08631	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-6.511000	0.00078	-4.662000	0.02045	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2545:0.2918:0.4537	2.400	0.04131	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.189286	0.166667	0.020833	0.360000	0.000000	0.083333	0.173077	0.181818	0.05882	157.03	36	chr3	195783431	.	C	G	157.03	.	AC=2;AF=0.059;AN=34;DP=707;ExcessHet=0;FS=9.927;InbreedingCoeff=0.9355;MLEAC=1;MLEAF=0.029;MQ=37.58;QD=2.66;SOR=4.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	16	1	0	2
chr3	195783431	195783431	C	0	exonic	MUC4	.	.	.	.	606	857	30	28	1	87	0.0477778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	157.03	36	chr3	195783431	.	C	*	157.03	.	AC=2;AF=0.059;AN=34;DP=707;ExcessHet=0;FS=9.927;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=37.58;QD=2.66;SOR=4.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	16	1	0	2
chr3	195783439	195783439	T	0	exonic	MUC4	.	.	.	.	23	186	1	0	16	17	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	72.55	36	chr3	195783439	.	T	*	72.55	.	AC=2;AF=0.067;AN=30;DP=690;ExcessHet=0;FS=16.021;InbreedingCoeff=0.8636;MLEAC=2;MLEAF=0.067;MQ=35;QD=1.73;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	14	1	0	4
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	94.35	36	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C	94.35	.	AC=2;AF=0.067;AN=30;DP=689;ExcessHet=0;FS=19.759;InbreedingCoeff=0.845;MLEAC=1;MLEAF=0.033;MQ=40.85;MQRankSum=-0.319;QD=2.14;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	14	1	0	4
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	94.35	36	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	*	94.35	.	AC=2;AF=0.067;AN=30;DP=689;ExcessHet=0;FS=19.759;InbreedingCoeff=0.845;MLEAC=2;MLEAF=0.067;MQ=40.85;MQRankSum=-0.319;QD=2.14;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	14	1	0	4
chr3	195783456	195783456	G	0	exonic	MUC4	.	.	.	.	569	867	12	11	63	97	0.0192308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1197.96	36	chr3	195783456	.	G	*	1197.96	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.467;DP=690;ExcessHet=0;FS=14.412;InbreedingCoeff=0.9713;MLEAC=4;MLEAF=0.125;MQ=43.21;MQRankSum=0.153;QD=14.26;ReadPosRankSum=-0.867;SOR=4.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	14	2	0	3
chr3	195783496	195783496	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8084A:p.S2695Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0888	0.0154	0.125	0.0433	0.1306	0.0761	0.0465	0.1018	0.0001153	3	26028	rs769072565	0.0030	0.0079	0.0029	0.0031	0.0047	0.0029	0.0029	0.0043	0.0041	0.0010	0.0017	0.0052	0.0023	0.0052	0.0046	0.0029	0.0031	0.0047	0.0007	0.0028	0.0013	0	0.0016	0	0	.	.	0	0	0	0	0	0	0	0.0016	0	0	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.46	0.32722	T	-0.05	0.10480	N	0.043	0.01577	-1.0116	0.26416	T	0.041	0.17530	T	6	0.0036363006	0.00066	T	.	.	.	0.013	0.01715	.	.	.	.	1.467579142754757E-4	0.00012	.	.	0.542433857918	0.44789	T	.	.	.	-0.263888	0.12448	T	-0.616834	0.11435	T	0.0421908303122861	0.04090	T	0.684832	0.29327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	1.371228	0.17813	13.38	0.30667092946257996	0.01689	0.00838	0.03362	N	AEFBI	0.089729	0.18187	N	-0.82776420852381	0.12603	0.6153997	-1.00259515949732	0.09728	0.4856676	1.73116509190477E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	0.001000	0.12940	-0.141000	0.11517	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.303:0.0:0.697:0.0	3.506	0.07252	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	487.82	36	chr3	195783496	.	G	T	487.82	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.65;DP=523;ExcessHet=0;FS=11.335;InbreedingCoeff=0.6512;MLEAC=1;MLEAF=0.031;MQ=48.7;MQRankSum=0;QD=28.7;ReadPosRankSum=-1.645;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1002:.	15	0	1	3
chr3	195783496	195783496	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	487.82	36	chr3	195783496	.	G	*	487.82	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.65;DP=523;ExcessHet=0;FS=11.335;InbreedingCoeff=0.6512;MLEAC=1;MLEAF=0.031;MQ=48.7;MQRankSum=0;QD=28.7;ReadPosRankSum=-1.645;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1002:.	15	1	0	3
chr3	195783503	195783549	CGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8031_8077del:p.S2677Rfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0	0	0	0.0242	0.0011	0	0.0016	.	.	.	.	8.57e-06	0.0001	8.468e-06	8.675e-06	7.219e-05	3.69e-06	2.66e-06	1.195e-05	4.47e-06	0	0	0	7.219e-05	0	0	6.921e-06	2.728e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	68.21	31	chr3	195783502	.	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	T	68.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.967;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=0.5797;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1002:.	14	0	1	4
chr3	195783502	195783549	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	68.21	31	chr3	195783502	.	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	*	68.21	.	AC=2;AF=0.067;AN=30;BaseQRankSum=0.967;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=0.5797;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1002:.	14	1	0	4
chr3	195783739	195783739	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T7841C:p.L2614P,MUC4:NM_001322468:exon7:c.T7793C:p.L2598P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0.0667	0.25	.	.	.	0.05	.	0	0.0009605	25	26028	rs764992987	0.0155	0.0012	0.0143	0.0166	0.0556	0.0142	0.0136	0.0402	0.0350	0.0556	0.0134	0.0144	0.0046	0.0092	0	0.0108	0.0148	0.0334	0	0.0080	0	0	.	0	0	.	.	.	.	.	.	.	.	.	0	.	.	0.201	0.25664	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.984714	0.24776	N	.	.	.	1.24	0.36691	T	-0.25	0.11008	N	0.067	0.05542	-1.0117	0.26385	T	0.046	0.19640	T	5	0.002751112	0.00043	T	.	.	.	0.021	0.04004	.	.	.	.	0.0013921414159647548	0.00128	.	.	0.503696978092	0.39342	T	.	.	.	-0.350107	0.04721	T	-0.740681	0.03862	T	0.0149376645411832	0.00318	T	0.408659	0.10529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00730	B	.;.	.;.	0.321266	0.06959	3.506	0.17937263249226953	0.00543	0.00028	0.00265	N	AEFBI	0.022344	0.01105	N	-1.00562698779696	0.08486	0.3980915	-1.22102010087203	0.05573	0.2659155	1.55833964054938E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.756000	0.04882	-2.185000	0.04088	-2.028000	0.00431	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3475:0.0:0.6525:0.0	3.806	0.08293	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.180412	0.140000	0.500000	0.155172	0	0.500000	0.107143	0.142857	1.0	54.98	47	chr3	195783739	.	A	G	54.98	.	AC=2;AF=1;AN=2;DP=1027;ExcessHet=0;FS=0;InbreedingCoeff=0.3461;MLEAC=5;MLEAF=1;MQ=46;QD=27.49;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	18
chr3	195783889	195783889	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7690dupA:p.T2564Nfs*26,MUC4:NM_001322468:exon7:c.7642dupA:p.T2548Nfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0.0017	0.0001	0	0	3.88e-05	6	154602	rs775414158	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0012	0.0011	0	2.937e-05	0	0.0016	0.0010	0.0005	6.342e-05	0.0002	0.0002	0.0001	0.0001	6.709e-05	0.0002	8.849e-05	6.771e-05	5.533e-05	3.772e-05	2.582e-05	0	0	0	0	0	0.0009	0	8.849e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3618.29	531	chr3	195783889	.	G	GT	3618.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.234;DP=8572;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.73;MQRankSum=0.957;QD=5.34;ReadPosRankSum=1;SOR=0.86	GT:AD:DP:GQ:PL	0/0:411,0:411:99:0,120,1800	18	0	1	0
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	31151.9	578	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	31151.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.24;DP=9366;ExcessHet=0;FS=0;InbreedingCoeff=0.528;MLEAC=3;MLEAF=0.083;MQ=54.47;MQRankSum=-0.353;QD=33.42;ReadPosRankSum=-3.38;SOR=0.747	GT:AD:DP:GQ:PL	0/0:462,0:462:99:0,120,1800	16	1	1	1
chr3	195784222	195784222	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7358T:p.S2453I,MUC4:NM_001322468:exon7:c.G7310T:p.S2437I	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00123067916613	.	.	0.0008	0.0005	0	0	0.0005	0.0015	0	0.0003	0.0001488	23	154602	rs778868605	7.232e-05	0.0009	7.612e-05	6.842e-05	7.09e-05	5.984e-05	5.538e-05	5.165e-05	4.688e-05	7.09e-05	0	0.0001	0	0.0004	0	6.49e-05	0.0001	0	0.0006	0.0033	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0007	0	0	0.0012	0	0.0008	0.0033	0.0003	0.167	0.27783	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20909	N	.	.	.	1.47	0.31987	T	-0.5	0.18459	N	0.091	0.06990	-0.9912	0.32295	T	0.028	0.11882	T	8	0.024404973	0.00670	T	0.001231	0.01633	T	0.019	0.03383	0.296	0.26041	0.0611884634855	0.05136	1.8125435560606282E-4	0.00016	.	.	0.579718947411	0.50047	T	.	.	.	-0.345844	0.04993	T	-0.734557	0.04123	T	0.0165328343169427	0.00416	T	0.518148	0.16784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.50044	B	.;.	.;.	1.229455	0.16240	12.41	0.92940184326513287	0.22508	0.00376	0.01908	N	AEFDBCI	0.029546	0.02808	N	-1.30213955474078	0.03651	0.1634745	-1.38485414412822	0.03412	0.1591326	1.4555076539631E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.45	0.08365	-0.904000	0.04188	-7.951000	0.01055	-1.299000	0.01246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3013:0.3987:0.3:0.0	2.814	0.05117	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03571	888.58	1016	chr3	195784222	.	C	A	888.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.123;DP=12537;ExcessHet=0;FS=0;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=59.3;MQRankSum=-4.48;QD=1.74;ReadPosRankSum=-2.98;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:707,0:707:99:.:.:0,120,1800:.	13	0	1	5
chr3	195784238	195784238	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7342T:p.P2448S,MUC4:NM_001322468:exon7:c.C7294T:p.P2432S	.	408	1104	9	0	1	10	0.00405954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000863838312464	.	.	0.0007	0.0004	0	0	0.0006	0.0011	0	0.0003	.	.	.	rs767095427	1.063e-05	0.0003	1.456e-05	6.618e-06	0.0001	5.93e-06	4.57e-06	2.75e-05	1.462e-05	0.0001	0	9.091e-05	0	6.577e-05	0	5.358e-06	0	0	0.0002	0.0017	0.0002	0.0001	0.0003	0.0001	9.318e-05	0.0001	8.79e-05	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0015	0	0.931	0.08018	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.28391	T	-0.07	0.08033	N	0.047	0.01911	-1.0015	0.29488	T	0.037	0.15770	T	8	0.02548623	0.00741	T	8.64E-4	0.00755	T	0.012	0.01476	0.155	0.05858	0.0138822411134	0.00435	4.261584325015362E-4	0.00038	.	.	0.51801776886	0.41346	T	.	.	.	-0.356185	0.04350	T	-0.749412	0.03509	T	0.0607865366847168	0.07291	T	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08417	B	.;.	.;.	0.847285	0.12193	8.739	0.96811081693435341	0.31187	0.00361	0.01848	N	AEFDBCI	0.037527	0.05175	N	-1.30116415194799	0.03662	0.1639944	-1.41352889436045	0.03116	0.1447291	1.53166465818705E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.55	0.08105	-1.034000	0.03678	-5.367000	0.01745	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4368:0.0:0.5632:0.0	5.287	0.15018	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	162.04	1016	chr3	195784238	.	G	A	162.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.36;DP=13069;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=59.36;MQRankSum=-4.902;QD=0.31;ReadPosRankSum=-3.574;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:707,0:707:99:.:.:0,120,1800:.	14	0	1	4
chr3	195784244	195784244	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7336A:p.A2446T,MUC4:NM_001322468:exon7:c.G7288A:p.A2430T	.	433	1078	10	0	1	11	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000820917494916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290099392	5.921e-05	0.0002	5.365e-05	6.49e-05	0.0008	4.799e-05	4.41e-05	0.0002	0.0001	0.0001	0.0002	0.0003	2.959e-05	2.212e-05	0.0008	4.833e-05	9.917e-05	0	9.552e-05	0.0010	0.0001	6.535e-05	0.0002	5.482e-05	4.311e-05	5.282e-05	3.706e-05	0.0001	0	0	0	0.0002	0	0	0.0001	0	0	0.879	0.12109	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.35775	T	0.23	0.05503	N	0.039	0.01577	-1.0324	0.19681	T	0.025	0.10910	T	8	0.039129823	0.02381	T	8.21E-4	0.00670	T	0.029	0.06676	.	.	0.0138822411134	0.00435	1.3437775429296162E-4	0.00011	.	.	0.575703263283	0.49481	T	.	.	.	-0.357915	0.04249	T	-0.751897	0.03413	T	0.0118334493951269	0.00184	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02733	B	.;.	.;.	0.503812	0.08731	5.502	0.92524653414164304	0.21967	0.00151	0.00912	N	AEFDBCI	0.026535	0.02009	N	-1.59426760012223	0.01293	0.05631308	-1.68263876273484	0.01216	0.05476597	7.32536357830108E-5	0.04552	0.713056	0.82018	0	0.446627	0.06534	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-2.07	0.06873	-2.951000	0.00743	-1.283000	0.05821	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2294:0.3384:0.2294:0.2028	0.531	0.00586	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	1042.55	1016	chr3	195784244	.	C	T	1042.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-5.101;DP=13113;ExcessHet=0;FS=4.19;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.35;MQRankSum=-24.85;QD=0.94;ReadPosRankSum=-5.602;SOR=1.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:707,0:707:99:.:.:0,120,1800:.	15	0	1	3
chr3	195784253	195784253	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7327T:p.T2443S,MUC4:NM_001322468:exon7:c.A7279T:p.T2427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00297583410487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250775982	3.413e-05	0.0001	3.537e-05	3.287e-05	0.0001	2.556e-05	2.266e-05	4.272e-05	2.601e-05	0	0.0001	0.0003	8.667e-05	2.167e-05	0	2.552e-05	7.797e-05	0	7.184e-06	0.0004	0	1.465e-05	1.532e-05	0	0	.	.	0	0	0	0	0	0	0	1.532e-05	0	0	0.158	0.23905	T	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.22	0.37052	T	-0.42	0.14193	N	0.12	0.12913	-1.0594	0.11905	T	0.036	0.15683	T	7	0.09307006	0.16441	T	0.002976	0.06339	T	0.030	0.07022	0.177	0.08379	0.0138822411134	0.00435	8.433381505329954E-5	0.00007	.	.	0.553493976593	0.46351	T	.	.	.	-0.281767	0.10481	T	-0.642515	0.09486	T	0.094187685300404	0.11705	T	0.515049	0.16594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33846	B	.;.	.;.	1.715760	0.21849	15.37	0.60171392431979309	0.06399	0.01116	0.04076	N	AEFDBCI	0.050301	0.08777	N	-0.971369795143328	0.09219	0.4354167	-1.12376378097729	0.07248	0.3518398	1.15460308272511E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	.	.	.	1.810000	0.38570	-1.238000	0.05941	0.263000	0.18423	0.948000	0.32982	0.000000	0.08366	0.006000	0.07323	0.0:0.3493:0.0:0.6507	2.751	0.04955	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	1374.55	1016	chr3	195784253	.	T	A	1374.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.028;DP=13325;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=58.18;MQRankSum=-25.83;QD=1.23;ReadPosRankSum=-2.928;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:707,0:707:99:.:.:0,120,1800:.	15	0	1	3
chr3	195784267	195784290	ACGTTGGTGACAGGAAGACGGGTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7290_7313del:p.T2431_V2438del,MUC4:NM_001322468:exon7:c.7242_7265del:p.P2415_A4615delinsTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	424	1077	8	0	13	21	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.276e-05	0	0	0	0	0.0002	0	0	.	.	.	rs773708999	0.0024	0.0088	0.0023	0.0024	0.0156	0.0023	0.0023	0.0125	0.0113	0.0034	0.0042	0.0047	0	0.0029	0.0156	0.0021	0.0034	0.0026	0.0001	0.0015	0.0001	0.0002	0.0005	9.324e-05	7.791e-05	0.0002	0.0002	0.0001	0	0.0005	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	4156.99	1016	chr3	195784266	.	AACGTTGGTGACAGGAAGACGGGTG	A	4156.99	.	AC=1;AF=0.033;AN=30;BaseQRankSum=6.82;DP=13448;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=57.17;MQRankSum=-17.97;QD=5.09;ReadPosRankSum=-1.41;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:707,0:707:99:.:.:0,120,1800:.	14	0	1	4
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	57016.6	1258	chr3	195784271	.	T	*	57016.6	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.013;DP=17952;ExcessHet=12.1646;FS=0;InbreedingCoeff=-0.4421;MLEAC=1;MLEAF=0.028;MQ=59.33;MQRankSum=-3.66;QD=4.45;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:879,0:1082:99:.:.:2728,5360,31600:.	17	0	1	1
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del,MUC4:NM_001322468:exon7:c.7214_7237del:p.G2405_A4615delinsASPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	3930.97	1413	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	3930.97	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.52;DP=17742;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.033;MQ=57.21;MQRankSum=-17.91;QD=4.07;ReadPosRankSum=-5.19;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1281,0:1281:99:.:.:0,120,1800:.	14	0	1	4
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2359.08	1413	chr3	195784299	.	T	*	2359.08	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.249;DP=17823;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.033;MQ=59.22;MQRankSum=2.37;QD=1.11;ReadPosRankSum=2.39;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1281,0:1281:99:.:.:0,120,1800:.	14	0	1	4
chr3	195784340	195784340	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7240A:p.A2414T,MUC4:NM_001322468:exon7:c.G7192A:p.A2398T	.	460	1045	15	2	0	19	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00433362787869	.	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs200964957	0.0022	0.0036	0.0020	0.0024	0.0109	0.0021	0.0021	0.0083	0.0074	0.0032	0.0050	0.0043	0	0.0036	0.0109	0.0019	0.0030	0.0032	0.0007	0.0039	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0006	0.0011	0	0.0013	0.0008	0	0	0	0.0006	0.0008	0.0006	0.575	0.13219	T	0.299	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.38	0.34050	T	0.17	0.06612	N	0.043	0.01658	-1.0104	0.26791	T	0.028	0.11926	T	7	0.032047182	0.01349	T	0.004334	0.10529	T	0.017	0.02790	.	.	0.0138822411134	0.00435	4.8440990828133E-4	0.00044	.	.	0.495961010456	0.38265	T	.	.	.	-0.334216	0.05799	T	-0.717854	0.04901	T	0.00313935512708717	0.00033	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.;.	.;.	0.528788	0.08976	5.756	0.94107301117828379	0.24274	0.00235	0.01311	N	AEFBCI	0.041178	0.06227	N	-1.31152042636515	0.03542	0.1584179	-1.39536983910569	0.03301	0.1537084	1.36829983409383E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-4.156000	0.00322	-4.105000	0.02340	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025384	0.036842	0.016340	0.057522	0.000000	0.010638	0.021875	0.003968	0.02778	5140.72	1991	chr3	195784340	.	C	T	5140.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.675;DP=18148;ExcessHet=0;FS=0;InbreedingCoeff=0.2963;MLEAC=1;MLEAF=0.028;MQ=56.82;MQRankSum=-17.01;QD=5.07;ReadPosRankSum=-9.381;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1281,0:1281:99:.:.:0,120,1800:.	17	0	1	1
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D,MUC4:NM_001322468:exon7:c.C7189G:p.H2397D	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037603	0.042553	0.035599	0.082609	0.000000	0.021277	0.028481	0.007937	0.02778	6177.6	1991	chr3	195784343	.	G	C	6177.6	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.241;DP=18333;ExcessHet=0.1259;FS=1.338;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=56.85;MQRankSum=-4.309;QD=5.01;ReadPosRankSum=-9.079;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1281,0:1281:99:.:.:0,120,1800:.	17	0	1	1
chr3	195784460	195784460	A	0	exonic	MUC4	.	.	.	.	1145	92	157	109	19	394	0.670841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	51311.1	1858	chr3	195784460	.	A	*	51311.1	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.22;DP=23579;ExcessHet=0;FS=0;InbreedingCoeff=0.3667;MLEAC=3;MLEAF=0.375;MQ=58.19;MQRankSum=-0.584;QD=19.64;ReadPosRankSum=1.02;SOR=0.555	GT:AD:DP:GQ:PL	./.:1473,0:1473:0:0,0,0	3	0	1	15
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	100412.0	440	chr3	195784652	.	C	*	100412.0	.	AC=1;AF=0.042;AN=24;BaseQRankSum=1.63;DP=8111;ExcessHet=0.1263;FS=0.649;InbreedingCoeff=0.3259;MLEAC=1;MLEAF=0.042;MQ=52.85;MQRankSum=-1.375;QD=29.4;ReadPosRankSum=3.28;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:51,0:227:99:0|1:195784652_C_G:7076,7229,9047:195784652	11	0	1	7
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	173916.0	1112	chr3	195784719	.	A	*	173916.0	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.87;DP=14491;ExcessHet=0.0379;FS=0;InbreedingCoeff=0.4154;MLEAC=4;MLEAF=0.154;MQ=56.65;MQRankSum=0.291;QD=23.18;ReadPosRankSum=-1.256;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:641:88:.:.:19504,18988,22909:.	11	1	1	6
chr3	195784924	195784924	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6656G:p.T2219R,MUC4:NM_001322468:exon7:c.C6608G:p.T2203R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	.	0.0015	0	0	0.0032	0.0102	0.0008	0.0034	0.0009	0.0003105	48	154602	rs760474331	9.823e-05	0.0004	0.0001	7.892e-05	0.0008	8.38e-05	7.866e-05	0.0006	0.0005	0	0	0	0.0008	0.0011	0	3.45e-05	0.0002	6.796e-05	0.0004	0.0007	0.0002	0.0005	0.0014	0.0003	0.0003	0.0007	0.0005	4.914e-05	0.0022	0	0	0.0014	0.0029	0	0.0001	0	0.0006	0.006	0.68238	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.28	0.36330	T	-0.5	0.19933	N	0.093	0.14338	-1.0520	0.13845	T	0.081	0.32090	T	6	0.0067575574	0.00153	T	.	.	.	0.112	0.31546	.	.	0.0297737177859	0.01360	0.0047360653174486475	0.00446	.	.	0.517487943172	0.41272	T	.	.	.	-0.260971	0.12786	T	-0.612643	0.11770	T	0.021819335402207	0.00889	T	0.812919	0.46506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.46109	B	.;.	.;.	2.106551	0.26808	17.25	0.81657109447468745	0.13794	0.01045	0.03900	N	AEFBI	0.064849	0.12615	N	-1.28725235816055	0.03828	0.1717064	-1.5596710357527	0.01910	0.08712463	1.29955529593604E-5	0.02871	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.063000	0.30177	-1.222000	0.05984	0.177000	0.17786	0.032000	0.20554	0.000000	0.08366	0.006000	0.07323	.	.	.	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2431.33	2214	chr3	195784924	.	G	C	2431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.608;DP=23510;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=1.17;QD=1.64;ReadPosRankSum=1.68;SOR=0.71	GT:AD:DP:GQ:PL	0/0:1607,0:1607:99:0,120,1800	18	0	1	0
chr3	195785132	195785132	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6448G:p.T2150A,MUC4:NM_001322468:exon6:c.A6448G:p.T2150A	.	2	217	1	0	6	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00595102262378	.	.	0.0005	0.0038	0	0	0	0	0	0	1.29e-05	2	154602	rs753715454	0.0016	0.0017	0.0014	0.0018	0.0092	0.0015	0.0015	0.0078	0.0073	0.0042	0.0045	0.0028	0.0092	0.0036	0.0003	0.0011	0.0029	0.0036	0.0006	0.0024	0.0008	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0010	0	0.0005	0	0	0.0010	0	0.0005	0	0.0006	0.123	0.27544	T	0.131	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.62	0.28604	T	-0.23	0.13805	N	0.028	0.00717	-1.0253	0.21985	T	0.042	0.17910	T	7	0.009046972	0.00205	T	0.005951	0.15520	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.0018691287366703617	0.00172	.	.	0.461126625538	0.33465	T	.	.	.	-0.343244	0.05167	T	-0.730823	0.04290	T	0.00568317456085818	0.00062	T	0.473453	0.14099	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.492305	0.01892	0.156	0.65482961675126961	0.07785	0.00739	0.03088	N	AEFBCI	0.041769	0.06394	N	-1.12060933506001	0.06277	0.2885292	-1.29165129709036	0.04543	0.2145078	2.25352818074072E-5	0.03498	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.679000	0.00910	-4.137000	0.02321	-2.017000	0.00438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:2.0E-4:0.0:0.9998	5.200	0.14580	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	544.14	1556	chr3	195785132	.	T	C	544.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.868;DP=18621;ExcessHet=0;FS=3.086;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=52.29;MQRankSum=3.32;QD=12.96;ReadPosRankSum=2.29;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1244,0:1244:0:.:.:0,0,11870:.	16	0	1	2
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	2631.34	1686	chr3	195785314	.	A	AC	2631.34	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.56;DP=17159;ExcessHet=0.3672;FS=1.913;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.094;MQ=57.24;MQRankSum=-2.505;QD=1.25;ReadPosRankSum=1.93;SOR=0.789	GT:AD:DP:GQ:PL	0/1:933,79:1012:71:71,0,37350	13	0	3	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	573736.0	1545	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	573736.0	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.84;DP=17971;ExcessHet=0;FS=0;InbreedingCoeff=0.6577;MLEAC=2;MLEAF=0.056;MQ=57.37;MQRankSum=-0.512;QD=26.8;ReadPosRankSum=0.165;SOR=0.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,61:999:26:.:.:42644,33350,37388:.	16	0	2	1
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGAAAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTTTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTTTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	.	0	2.75e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.639e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	573736.0	1545	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGAAAC	573736.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.84;DP=17971;ExcessHet=0;FS=0;InbreedingCoeff=0.6577;MLEAC=1;MLEAF=0.028;MQ=57.37;MQRankSum=-0.512;QD=26.8;ReadPosRankSum=0.165;SOR=0.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:999:26:.:.:42644,36543,40799:.	17	0	1	1
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	22762.9	1058	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	22762.9	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.304;DP=13211;ExcessHet=0.0101;FS=0.518;InbreedingCoeff=0.3698;MLEAC=4;MLEAF=0.111;MQ=52.52;MQRankSum=-14.42;QD=22.16;ReadPosRankSum=-11.01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:927,0:927:99:.:.:0,120,1800:.	15	1	2	1
chr3	195785800	195785800	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5780A:p.S1927Y,MUC4:NM_001322468:exon6:c.C5780A:p.S1927Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00367358691015	.	.	0.0015	0	0	0.0037	0.0092	0.0008	0.0038	0.0010	0.0002717	42	154602	rs200815654	0.0003	0.0006	0.0003	0.0003	0.0016	0.0002	0.0002	0.0013	0.0011	0	2.946e-05	0	0.0016	0.0035	0	8.285e-05	0.0004	0.0002	0.0004	0.0007	0.0002	0.0006	0.0016	0.0003	0.0003	0.0008	0.0006	0	0	0	0	0.0016	0.0031	0	0.0002	0.0005	0.0006	0.004	0.65419	D	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.42	0.33189	T	-0.4	0.13805	N	0.087	0.06454	-1.0406	0.17132	T	0.036	0.15378	T	6	0.009141922	0.00207	T	0.003674	0.08464	T	0.012	0.01476	.	.	0.0551355673512	0.04727	4.330026366298004E-4	0.00039	.	.	0.558222472668	0.47016	T	.	.	.	-0.298614	0.08791	T	-0.666715	0.07820	T	0.0181590440089666	0.00537	T	0.880212	0.59782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.52969	B	.;.	.;.	1.604372	0.20508	14.78	0.76809164798735852	0.11618	0.05478	0.11361	N	AEFBCI	0.067000	0.13149	N	-1.00805244713655	0.08436	0.3955294	-1.16317791159856	0.06534	0.3148439	3.47764912971636E-5	0.03775	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.026000	0.12340	0.438000	0.18395	-1.497000	0.01035	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	2454.11	877	chr3	195785800	.	G	T	2454.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.57;DP=12775;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.27;MQRankSum=3.46;QD=1.82;ReadPosRankSum=0.106;SOR=0.69	GT:AD:DP:GQ:PL	0/0:774,0:774:99:0,120,1800	16	0	1	2
chr3	195785855	195785855	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G5725A:p.D1909N,MUC4:NM_001322468:exon6:c.G5725A:p.D1909N	.	408	1105	7	0	2	9	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00134860183168	.	.	0.0041	0.0030	0.0019	0.0012	0	0.0063	0.0038	0.0029	0.0009444	146	154602	rs3103962	0.0022	0.0047	0.0022	0.0022	0.0042	0.0021	0.0021	0.0027	0.0023	0.0007	0.0012	0.0025	8.935e-05	0.0002	0.0042	0.0025	0.0021	0.0014	0.0019	0.0035	0.0020	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0008	0.0011	0.0015	0.0023	0.0004	0.0002	0.0036	0.0030	0.0019	0.0017	0.1	0.30515	T	0.36	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.36	0.34452	T	-0.33	0.12472	N	0.037	0.02366	-1.0345	0.19014	T	0.031	0.13461	T	8	0.0053756535	0.00118	T	0.001349	0.01936	T	0.055	0.15663	.	.	0.0138822411134	0.00435	3.717077622336155E-4	0.00034	.	.	0.584268033504	0.50686	T	.	.	.	-0.359028	0.04185	T	-0.753495	0.03352	T	0.00180360728884325	0.00018	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	2.061221	0.26211	17.04	0.97409865315967703	0.33820	0.02871	0.07644	N	AEFDGBCI	0.055460	0.10173	N	-0.949747703426852	0.09699	0.4601384	-1.13421185370058	0.07055	0.3417515	5.15302862961625E-5	0.04171	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.13	-0.522	0.11332	0.646000	0.24486	-2.628000	0.03532	0.055000	0.17525	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.2848:0.4686:0.0:0.2466	2.296	0.03896	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003628	0.010417	0.001661	0.000000	0.000000	0.000000	0.006897	0.000000	0.02941	2336.14	877	chr3	195785855	.	C	T	2336.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.79;DP=12886;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.39;MQRankSum=1.29;QD=1.98;ReadPosRankSum=-0.202;SOR=0.717	GT:AD:DP:GQ:PL	0/0:774,0:774:99:0,120,1800	16	0	1	2
chr3	195786289	195786289	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5291A:p.T1764N,MUC4:NM_001322468:exon6:c.C5291A:p.T1764N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00288369811063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762639759	7.305e-07	4.13e-06	0	1.481e-06	9.443e-07	0	0	.	.	0	0	0	0	0	0	9.443e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.23631	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.998872	0.45601	D	.	.	.	1.43	0.32958	T	-0.17	0.09627	N	0.066	0.08786	-1.0304	0.20325	T	0.048	0.20355	T	7	0.075591594	0.11701	T	0.002884	0.06074	T	0.096	0.27654	0.098	0.01383	0.0138822411134	0.00435	1.9107310317840158E-4	0.00017	.	.	0.574587523937	0.49325	T	.	.	.	-0.350662	0.04686	T	-0.741478	0.03829	T	0.196937739849091	0.20246	T	0.864413	0.56163	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43640	B	.;.	.;.	1.199011	0.15912	12.19	0.69880203458573376	0.09114	0.04616	0.10276	N	AEFDBCI	0.082889	0.16788	N	-0.924947611451403	0.10260	0.4894898	-1.13182017946414	0.07099	0.3440407	6.09737466362473E-4	0.07437	0.569682	0.32691	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	.	.	.	1.860000	0.39068	-0.632000	0.08120	0.167000	0.17740	0.010000	0.18352	0.000000	0.08366	0.008000	0.08271	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	10387.6	761	chr3	195786289	.	G	T	10387.6	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.556;DP=10516;ExcessHet=0.119;FS=2.009;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.69;MQRankSum=2.14;QD=7.31;ReadPosRankSum=0.666;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:552,150:702:99:0|1:195786255_G_A:4039,0,21160:195786255	16	0	2	1
chr3	195786692	195786692	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4888G:p.T1630A,MUC4:NM_001322468:exon5:c.A4888G:p.T1630A	.	411	1102	9	0	0	9	0.00406688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00199681	0.0087	0.0020	0.0090	0.0427	0.0006	0.0042	0.0041	0.0151	0.0010373	27	26028	rs74500246	0.0023	0.0069	0.0023	0.0023	0.0059	0.0022	0.0022	0.0051	0.0048	0.0005	0.0041	0.0045	0.0059	0.0006	0.0018	0.0020	0.0028	0.0052	0.0026	0.0079	0.0025	0.0027	0.0279	0.0024	0.0023	0.0230	0.0212	0.0009	0.0050	0.0056	0.0046	0.0279	0.0020	0	0.0015	0.0039	0.0042	0.926	0.03587	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.28189	T	-0.17	0.09627	N	0.045	0.01740	-0.9577	0.39608	T	0.053	0.22539	T	7	0.0057762265	0.00129	T	.	.	.	0.027	0.05988	.	.	0.0138822411134	0.00435	0.0013996328587127945	0.00128	.	.	0.472726225853	0.35055	T	.	.	.	-0.364331	0.03891	T	-0.761113	0.03073	T	0.011518552387113	0.00174	T	0.541746	0.18406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06617	B	.;.	.;.	0.288039	0.06644	3.143	0.59756809278937539	0.06299	0.00207	0.01180	N	AEFBI	0.054523	0.09922	N	-1.06909136316264	0.07219	0.3346587	-1.25036143067023	0.05126	0.2434934	1.30642004914175E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.338000	0.01184	-4.211000	0.02279	-2.107000	0.00391	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:7.0E-4:0.0:0.9993	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009987	0.005618	0.013834	0.004762	0.055556	0.000000	0.017986	0.013889	0.02778	1138.71	840	chr3	195786692	.	T	C	1138.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.7;DP=8862;ExcessHet=0;FS=1.93;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.34;MQRankSum=-8.898;QD=1.36;ReadPosRankSum=-1.529;SOR=0.894	GT:AD:DP:GQ:PL	0/0:485,0:485:99:0,120,1800	17	0	1	1
chr3	195787051	195787051	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4529T:p.P1510L,MUC4:NM_001322468:exon5:c.C4529T:p.P1510L	.	454	1058	9	0	1	10	0.00423529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000872298701567	.	.	0.0004	0	0	0	0	0.0002	0	0.0007	1.29e-05	2	154602	rs199664463	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0001	0.0005	0.0005	0.0002	0.0001	0	2.83e-05	0	0.0013	0.0001	0.0003	0.0007	0.0001	0.0002	0.0001	0.0001	0.0006	6.73e-05	5.404e-05	9.854e-05	4.106e-05	3.391e-05	0.0050	0	0	0	0	0	0.0001	0	0.0006	0.057	0.37966	T	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	-0.33	0.12472	N	0.056	0.02861	-1.0085	0.27385	T	0.036	0.15509	T	8	0.015502483	0.00325	T	8.72E-4	0.00777	T	0.013	0.01715	.	.	0.0297737177859	0.01360	9.818747572338761E-6	0.00000	.	.	0.483713299036	0.36568	T	.	.	.	-0.297818	0.08867	T	-0.665572	0.07895	T	0.00419578833352175	0.00045	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18580	B	.;.	.;.	1.926325	0.24464	16.41	0.80183866171444929	0.13083	0.00290	0.01555	N	AEFBI	0.048533	0.08291	N	-1.17930422346206	0.05313	0.2419222	-1.28156003227526	0.04679	0.2213052	1.17065881968259E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	0.312	0.15082	2.090000	0.41306	-2.348000	0.03868	0.170000	0.17755	0.031000	0.20493	0.000000	0.08366	0.002000	0.04165	0.4067:0.0:0.5933:0.0	2.826	0.05148	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2006.33	51	chr3	195787051	.	G	A	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=879;ExcessHet=0;FS=13.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.3;MQRankSum=-2.228;QD=20.06;ReadPosRankSum=1.11;SOR=0.032	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,5:15:34:.:.:202,0,34:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,5:13:99:0|1:195787238_C_*:457,251,279:195787238	10	0	6	3
chr3	195787243	195787243	G	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4337delC:p.P1446Lfs*1558,MUC4:NM_001322468:exon5:c.4337delC:p.H1446Lfs*863	.	721	767	5	1	28	35	0.0045425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1396416248	0.0023	0.0054	0.0022	0.0023	0.0041	0.0021	0.0021	0.0032	0.0029	0.0013	0.0006	0.0054	0.0041	0.0023	0.0008	0.0025	0.0029	0.0004	0.0004	0.0057	0.0005	0.0004	0.0006	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0029	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	90.02	12	chr3	195787242	.	AG	A	90.02	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.46;DP=298;ExcessHet=0;FS=3.424;InbreedingCoeff=0.0285;MLEAC=2;MLEAF=0.091;MQ=37.02;MQRankSum=-0.908;QD=7.5;ReadPosRankSum=-2.362;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,43:.	10	0	1	8
chr3	195787245	195787245	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4335G:p.I1445M,MUC4:NM_001322468:exon5:c.C4335G:p.I1445M	.	794	694	4	1	29	35	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0324580274424	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228901631	0.0013	0.0052	0.0013	0.0013	0.0023	0.0012	0.0011	0.0017	0.0014	0.0012	0.0003	0.0046	0.0023	0.0011	0.0008	0.0014	0.0018	6.767e-05	0.0001	0.0074	0.0002	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0.0002	0	0	0.033	0.44358	D	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32722	T	-0.1	0.08495	N	0.076	0.22486	-1.0330	0.19490	T	0.024	0.10148	T	7	0.060831457	0.07532	T	0.032458	0.54278	D	0.118	0.32913	0.17	0.07536	0.0138822411134	0.00435	1.8549583422076175E-5	0.00001	.	.	0.475635021925	0.35456	T	.	.	.	-0.331908	0.05968	T	-0.71454	0.05064	T	0.0534780945884143	0.06101	T	0.80002	0.44558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.35581	B	.;.	.;.	1.109029	0.14942	11.46	0.55533398527950439	0.05362	0.00177	0.01040	N	AEFGI	0.045122	0.07343	N	-1.82617061069096	0.00484	0.02084429	-1.94669258445356	0.00395	0.01744831	0.00294313514667599	0.09819	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.155000	0.16180	-1.028000	0.06557	0.061000	0.17545	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2569:0.2433:0.2564:0.2434	0.134	0.00071	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	48.13	11	chr3	195787245	.	G	C	48.13	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.349;DP=297;ExcessHet=0;FS=4.616;InbreedingCoeff=0.0251;MLEAC=2;MLEAF=0.091;MQ=37.29;MQRankSum=-0.605;QD=4.38;ReadPosRankSum=-2.362;SOR=0.048	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,43:.	10	0	1	8
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,5:11:99:0|1:195787238_C_*:365,162,195:195787238	7	0	7	5
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:22:66:1|1:195787453_G_A:990,990,990:195787453	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:18:54:1|1:195787453_G_A:810,810,810:195787453	7	5	1	6
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	725.76	4	chr3	195787598	.	GCAT	G	725.76	.	AC=6;AF=0.188;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=6;MLEAF=0.188;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	13	3	0	3
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:4:12:1|1:195787453_G_A:180,180,180:195787453	10	5	1	3
chr3	195787599	195787599	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3981C:p.M1327I,MUC4:NM_001322468:exon4:c.G3981C:p.M1327I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00238630808805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200851738	0.0041	0.0072	0.0040	0.0041	0.0286	0.0039	0.0038	0.0216	0.0191	0.0286	0.0099	0.0084	0.0185	0.0016	0.0024	0.0030	0.0063	0.0067	0.0007	0.0031	0.0007	0.0007	0.0010	0.0002	0.0001	9.869e-05	4.111e-05	0	0	0.0010	0	0	0.0021	0	0.0006	0	0	0.533	0.09572	T	0.429	0.13792	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	-0.13	0.08971	N	0.099	0.08088	-1.0200	0.23715	T	0.026	0.11131	T	7	0.0068490505	0.00156	T	0.002386	0.04646	T	0.025	0.05312	0.078	0.00601	0.0138822411134	0.00435	0.001284383071289368	0.00118	.	.	0.525663435459	0.42424	T	.	.	.	-0.402096	0.02243	T	-0.815359	0.01549	T	0.0010036658985378	0.00010	T	0.646135	0.25753	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.48355	B	.;.	.;.	-0.318243	0.02538	0.305	0.35878869987664419	0.02277	0.00238	0.01325	N	AEFI	0.033709	0.04050	N	-1.81618439156033	0.00507	0.02180808	-1.89498516261218	0.00501	0.02219431	6.01015288416931E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.078000	0.03524	-6.241000	0.01455	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3292:0.3453:0.3255	2.135	0.03531	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	31.65	4	chr3	195787599	.	C	G	31.65	.	AC=2;AF=0.077;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=1;MLEAF=0.038;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:4:12:1|1:195787453_G_A:180,180,180:195787453	12	1	0	6
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:195787453_G_A:180,12,0:195787453	4	8	1	6
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V,MUC4:NM_001322468:exon4:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.06667	248.93	3	chr3	195787606	.	T	A	248.93	.	AC=2;AF=0.067;AN=30;DP=197;ExcessHet=0;FS=0;InbreedingCoeff=0.4408;MLEAC=2;MLEAF=0.067;MQ=35.9;QD=28.22;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,41:.	14	1	0	4
chr3	195787651	195787651	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3929T:p.A1310V,MUC4:NM_001322468:exon4:c.C3929T:p.A1310V	.	677	844	1	0	0	1	0.000592066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000987050074551	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs369467782	3.43e-05	0.0002	2.508e-05	4.323e-05	0.0004	2.353e-05	1.989e-05	0.0001	8.902e-05	0	3.514e-05	0	0	3.206e-05	0.0004	1.547e-05	6.183e-05	0.0002	0	1.069e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.473	0.08408	T	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.143	0.14338	-1.0020	0.29342	T	0.036	0.15596	T	8	0.006201923	0.00140	T	9.87E-4	0.01050	T	0.007	0.00512	0.187	0.09646	0.0138822411134	0.00435	2.6768136789778523E-4	0.00023	.	.	0.474425941706	0.35290	T	.	.	.	-0.352028	0.04601	T	-0.74344	0.03747	T	0.00168162824946241	0.00017	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21163	B	.;.	.;.	0.290615	0.06670	3.171	0.96924675166215379	0.31632	0.00200	0.01150	N	AEFI	0.041652	0.06360	N	-1.3137078862287	0.03517	0.1572585	-1.43402867846011	0.02918	0.1351418	1.26513995383553E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-0.350000	0.07769	-7.353000	0.01175	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.661:0.0:0.339:0.0	3.746	0.08074	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.128788	0.000000	0.150000	0.333333	0	0.000000	0.150000	0.000000	0.06667	75.25	1	chr3	195787651	.	G	A	75.25	.	AC=2;AF=0.067;AN=30;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=0.2809;MLEAC=2;MLEAF=0.067;MQ=36.67;QD=27.68;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,34:.	14	1	0	4
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del,MUC4:NM_001322468:exon4:c.3675_3722del:p.G1230_A4615delinsDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3819.47	11	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T	3819.47	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.751;DP=307;ExcessHet=0.0378;FS=19.966;InbreedingCoeff=0.3451;MLEAC=2;MLEAF=0.056;MQ=35.96;MQRankSum=-1.117;QD=29.61;ReadPosRankSum=-0.735;SOR=4.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:4,0:9:99:0|1:195787857_T_A:198,210,378:195787857	16	0	2	1
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V,MUC4:NM_001322468:exon4:c.C3722T:p.A1241V	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025000	0.111111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	69.43	9	chr3	195787858	.	G	A	69.43	.	AC=2;AF=0.056;AN=36;DP=292;ExcessHet=0.0101;FS=12.075;InbreedingCoeff=0.3028;MLEAC=1;MLEAF=0.028;MQ=38.14;QD=5.79;SOR=3.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:27:.:.:0,27,369:.	17	1	0	1
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	69.43	9	chr3	195787858	.	G	*	69.43	.	AC=2;AF=0.056;AN=36;DP=292;ExcessHet=0.0101;FS=12.075;InbreedingCoeff=0.3028;MLEAC=2;MLEAF=0.056;MQ=38.14;QD=5.79;SOR=3.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:27:.:.:0,27,369:.	16	0	2	1
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3202.6	13	chr3	195787862	.	C	*	3202.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.571;DP=289;ExcessHet=0.0393;FS=17.151;InbreedingCoeff=0.3513;MLEAC=2;MLEAF=0.059;MQ=35.8;MQRankSum=-1.266;QD=25.02;ReadPosRankSum=0.468;SOR=4.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:5,0:10:99:0|1:195787857_T_A:195,210,417:195787857	15	0	2	2
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	4448.9	27	chr3	195787897	.	T	*	4448.9	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.327;DP=435;ExcessHet=0.0393;FS=10.484;InbreedingCoeff=0.3966;MLEAC=2;MLEAF=0.059;MQ=36.09;MQRankSum=-1.533;QD=22.13;ReadPosRankSum=1.04;SOR=3.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:11,0:18:99:0|1:195787857_T_A:221,254,670:195787857	15	0	2	2
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9934.29	76	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	9934.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.528;DP=1129;ExcessHet=0;FS=10.747;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=38.75;MQRankSum=0.506;QD=30.38;ReadPosRankSum=-7.767;SOR=2.31	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,101,1718	16	2	1	0
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	5594.28	1027	chr3	195788132	.	T	*	5594.28	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.91;DP=5429;ExcessHet=1.7113;FS=2.868;InbreedingCoeff=-0.0662;MLEAC=3;MLEAF=0.136;MQ=52.31;MQRankSum=-7.356;QD=2.39;ReadPosRankSum=-0.022;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:313,0:313:0:.:.:0,0,3612:.	9	0	2	8
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	3918.26	1027	chr3	195788137	.	C	*	3918.26	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.12;DP=4189;ExcessHet=0.3364;FS=0.558;InbreedingCoeff=0.1389;MLEAC=2;MLEAF=0.063;MQ=53.33;MQRankSum=2.64;QD=2.34;ReadPosRankSum=0.21;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:221,0:244:73:.:.:73,733,6770:.	14	0	2	3
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	2576.03	1027	chr3	195788146	.	A	*	2576.03	.	AC=1;AF=0.045;AN=22;BaseQRankSum=6.26;DP=5346;ExcessHet=0.9858;FS=2.483;InbreedingCoeff=0.0048;MLEAC=1;MLEAF=0.045;MQ=53.89;MQRankSum=-7.422;QD=1.45;ReadPosRankSum=-0.8;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	10	0	1	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	1609.21	1027	chr3	195788160	.	G	*	1609.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.81;DP=5710;ExcessHet=0.856;FS=2.597;InbreedingCoeff=0.0074;MLEAC=1;MLEAF=0.033;MQ=54.98;MQRankSum=-8.432;QD=0.86;ReadPosRankSum=-2.644;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	14	0	1	4
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	388.13	545	chr3	195788174	.	A	*	388.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.46;DP=5245;ExcessHet=0.1336;FS=2.658;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.033;MQ=55.45;MQRankSum=-6.99;QD=0.59;ReadPosRankSum=-1.755;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	14	0	1	4
chr3	195788180	195788180	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3400A:p.A1134T,MUC4:NM_001322468:exon4:c.G3400A:p.A1134T	.	470	951	19	0	82	101	0.00989068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	.	.	0.000998403	0.0111	0.0095	0.0213	0.0462	0.0024	0.0159	0	0.0060	0.0014295	221	154602	rs79645763	0.0003	0.0059	0.0003	0.0003	0.0027	0.0003	0.0003	0.0021	0.0019	0.0006	0.0004	0.0007	0.0027	0.0011	0.0005	0.0002	0.0006	8.487e-05	0.0038	0.0092	0.0037	0.0038	0.0071	0.0034	0.0033	0.0044	0.0035	0.0032	0.0082	0.0020	0.0037	0.0071	0.0066	0	0.0040	0.0042	0.0024	0.788	0.03218	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.049	0.05670	-1.0145	0.25497	T	0.033	0.14203	T	8	0.00656271	0.00149	T	.	.	.	0.000	0.00003	.	.	0.0138822411134	0.00435	0.003076283846689497	0.00286	.	.	0.321211725473	0.13606	T	.	.	.	-0.369551	0.03617	T	-0.768611	0.02814	T	0.00730006613025309	0.00084	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06114	B	.;.	.;.	0.065437	0.04751	1.376	0.90268847605123925	0.19538	0.00053	0.00405	N	AEFBI	0.030727	0.03149	N	-1.33967753435907	0.03233	0.1440755	-1.46984832069324	0.02595	0.1196181	1.98884394019904E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.814	-1.63	0.07900	-4.258000	0.00301	-0.347000	0.09772	-1.291000	0.01255	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2638:0.3161:0.0:0.4201	1.939	0.03140	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004065	0.010989	0.005597	0.000000	0.000000	0.000000	0.003968	0.000000	0.03333	277.07	521	chr3	195788180	.	C	T	277.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.97;DP=5493;ExcessHet=0;FS=32.612;InbreedingCoeff=0.2549;MLEAC=1;MLEAF=0.033;MQ=54.82;MQRankSum=-6.676;QD=2.29;ReadPosRankSum=-3.532;SOR=4.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	14	0	1	4
chr3	195788183	195788183	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3397G:p.H1133D,MUC4:NM_001322468:exon4:c.C3397G:p.H1133D	.	458	976	6	0	82	88	0.00306435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0072	0.0052	0.0132	0.0269	0.0018	0.0104	0	0.0043	0.000925	143	154602	rs755264800	0.0001	0.0050	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0003	0.0001	0.0002	0.0011	0.0005	0.0003	0.0001	0.0002	1.356e-05	0.0015	0.0045	0.0014	0.0015	0.0025	0.0013	0.0012	0.0015	0.0014	0.0007	0.0028	0.0010	0.0014	0.0025	0.0027	0	0.0018	0.0034	0.0008	1.0	0.00964	T	0.488	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.3	0.11913	N	0.172	0.27197	-1.0240	0.22410	T	0.035	0.14987	T	8	0.004650831	0.00097	T	.	.	.	0.027	0.05988	0.212	0.13066	0.0138822411134	0.00435	0.012443506741045308	0.01203	.	.	0.346953630447	0.17472	T	.	.	.	-0.378935	0.03164	T	-0.782091	0.02391	T	0.0449845124125565	0.04599	T	0.531447	0.17660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14797	B	.;.	.;.	1.334099	0.17395	13.14	0.75021871002754792	0.10915	0.00019	0.00214	N	AEFBI	0.020795	0.00858	N	-1.2886627646921	0.03810	0.1709067	-1.45455562657595	0.02729	0.1260527	1.89401554455299E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.706	-1.41	0.08473	-1.345000	0.02744	0.000000	0.13247	-1.834000	0.00587	0.000000	0.06391	0.003000	0.18671	0.006000	0.07323	0.2873:0.4226:0.2901:0.0	2.842	0.05193	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	213.57	521	chr3	195788183	.	G	C	213.57	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.09;DP=5639;ExcessHet=0;FS=29.394;InbreedingCoeff=0.3182;MLEAC=1;MLEAF=0.031;MQ=55.15;MQRankSum=-6.67;QD=1.68;ReadPosRankSum=-3.048;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	15	0	1	3
chr3	195788386	195788386	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3194A:p.A1065E,MUC4:NM_001322468:exon4:c.C3194A:p.A1065E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	.	0.0012	0.0137	0	0	0	0.0005	0	0	0.0002305	6	26028	rs867474974	0.0002	0.0012	0.0002	0.0002	0.0037	0.0002	0.0002	0.0029	0.0026	0.0037	0.0007	0.0002	5.714e-05	0.0001	0.0002	0.0001	0.0003	0.0002	0.0007	0.0015	0.0006	0.0008	0.0039	0.0006	0.0006	0.0033	0.0030	0.0039	0	0.0003	0.0003	0	0	0	6.191e-05	0	0	0.089	0.35918	T	0.023	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.17	0.09627	N	0.07	0.32037	-1.0034	0.28933	T	0.036	0.15553	T	8	0.005916208	0.00133	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.003948554940629903	0.00369	.	.	0.397288918495	0.24692	T	.	.	.	-0.290132	0.09622	T	-0.654531	0.08639	T	0.0267039674841368	0.01503	T	0.742326	0.36163	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47997	B	.;.	.;.	1.132573	0.15190	11.66	0.64209205409267334	0.07431	0.01103	0.04044	N	AEFBI	0.059355	0.11204	N	-1.72164472824251	0.00768	0.03316299	-1.81440952154314	0.00714	0.03181751	1.36224800253507E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.573	-1.15	0.09211	-4.025000	0.00351	-6.780000	0.01308	-1.958000	0.00478	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5176:0.0:0.4824:0.0	4.100	0.09482	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016939	0.010753	0.033951	0.004464	0.050000	0.000000	0.006369	0.004237	0.02632	6092.33	717	chr3	195788386	.	G	T	6092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.301;DP=9168;ExcessHet=0;FS=5.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=-4.063;QD=13.66;ReadPosRankSum=-0.579;SOR=1.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:686,0:686:99:.:.:0,120,1800:.	18	0	1	0
chr3	195788423	195788423	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3157C:p.D1053H,MUC4:NM_001322468:exon4:c.G3157C:p.D1053H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00124631409427	.	.	0.0001	0.0018	0	0	0	0	0	0	.	.	.	rs779864878	0.0013	0.0029	0.0013	0.0012	0.0040	0.0012	0.0012	0.0034	0.0032	0.0026	0.0040	0.0020	0.0003	0.0003	0.0005	0.0012	0.0011	0.0014	0.0007	0.0018	0.0007	0.0006	0.0035	0.0005	0.0005	0.0027	0.0025	0.0035	0	0.0004	0	0.0002	0.0001	0	0.0001	0.0007	0	0.24	0.23007	T	0.099	0.38891	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-0.23	0.10656	N	0.079	0.09066	-1.0246	0.22214	T	0.042	0.17952	T	8	0.012852192	0.00275	T	0.001246	0.01658	T	0.003	0.00094	0.222	0.14518	0.0138822411134	0.00435	0.0025534802943244636	0.00237	.	.	0.454276353121	0.32528	T	.	.	.	-0.366472	0.03776	T	-0.764188	0.02965	T	0.0253438661795726	0.01318	T	0.632737	0.24712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.;.	.;.	1.408190	0.18233	13.62	0.65317868333146878	0.07738	0.00066	0.00474	N	AEFBI	0.044773	0.07245	N	-1.98166725549338	0.00232	0.009929117	-2.08329739263822	0.00202	0.008921747	6.32892867691061E-5	0.04366	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.814	-1.63	0.07900	-0.133000	0.10430	-5.055000	0.01868	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3091:0.238:0.4529	2.947	0.05492	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001239	0.000000	0.001712	0.000000	0.000000	0.000000	0.000000	0.000000	0.02778	3811.71	674	chr3	195788423	.	C	G	3811.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.868;DP=8650;ExcessHet=0;FS=4.829;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.31;MQRankSum=-3.502;QD=10.53;ReadPosRankSum=10.13;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:617,0:617:99:.:.:0,120,1800:.	17	0	1	1
chr3	195788434	195788434	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3146T:p.A1049V,MUC4:NM_001322468:exon4:c.C3146T:p.A1049V	.	467	1053	1	0	1	2	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000568179270928	.	.	0.0002	0	0	0	0	0.0006	0	0	3.88e-05	6	154602	rs13077555	0.0008	0.0027	0.0008	0.0008	0.0023	0.0008	0.0007	0.0018	0.0017	0.0009	0.0023	0.0023	2.935e-05	0.0002	0.0010	0.0008	0.0005	0.0008	4.589e-05	0.0004	5.993e-05	3.125e-05	0.0002	1.947e-05	1.282e-05	5.12e-06	1.92e-06	3.642e-05	0	7.255e-05	0.0003	0.0002	0	0	3.087e-05	0	0	0.769	0.03392	T	0.04	0.51112	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.13	0.08971	N	0.106	0.10340	-1.0216	0.23195	T	0.035	0.15160	T	8	0.013029456	0.00278	T	5.68E-4	0.00233	T	0.013	0.01715	.	.	0.0138822411134	0.00435	6.776312928360077E-4	0.00062	.	.	0.404170304537	0.25649	T	.	.	.	-0.309213	0.07818	T	-0.68194	0.06865	T	0.0202551340078644	0.00725	T	0.634137	0.24845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.;.	.;.	-0.811073	0.01086	0.048	0.96692224136448046	0.30741	0.00223	0.01258	N	AEFBI	0.035508	0.04582	N	-1.87536734771267	0.00386	0.01657636	-1.98733659176661	0.00326	0.01438037	0.00294809772929446	0.09819	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.577	-1.15	0.09211	1.381000	0.33969	1.366000	0.25918	-1.743000	0.00699	0.004000	0.16614	0.001000	0.17328	0.002000	0.04165	0.4294:0.0:0.329:0.2415	2.178	0.03631	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003641	0.010417	0.003257	0.008772	0.000000	0.000000	0.000000	0.000000	0.02778	3845.71	674	chr3	195788434	.	G	A	3845.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.942;DP=8221;ExcessHet=0;FS=4.837;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.95;MQRankSum=-3.424;QD=10.86;ReadPosRankSum=9.54;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:563,0:563:99:.:.:0,120,1800:.	17	0	1	1
chr3	195788443	195788443	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T3137C:p.F1046S,MUC4:NM_001322468:exon4:c.T3137C:p.F1046S	.	516	1004	1	0	1	2	0.00049776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.127396	0.0013	0.0132	0	0	0	0.0006	0	0	0.0245505	639	26028	rs556018023	0.0020	0.0032	0.0020	0.0019	0.0081	0.0019	0.0019	0.0072	0.0068	0.0081	0.0054	0.0046	0.0003	0.0005	0.0021	0.0018	0.0018	0.0020	0.0033	0.0039	0.0030	0.0036	0.0117	0.0030	0.0029	0.0106	0.0102	0.0117	0	0.0014	0.0008	0.0003	0.0002	0.0100	0.0003	0.0044	0.0004	0.839	0.03544	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	-0.27	0.11366	N	0.133	0.13769	-1.0155	0.25175	T	0.039	0.16892	T	8	0.004041642	0.00079	T	.	.	.	0.012	0.01476	.	.	0.0138822411134	0.00435	0.005755218264974699	0.00545	.	.	0.395828127861	0.24488	T	.	.	.	-0.265592	0.12253	T	-0.619281	0.11241	T	0.000306852374594948	0.00002	T	0.637636	0.25136	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.;.	.;.	-0.336942	0.02459	0.283	0.82487914441247479	0.14218	0.00059	0.00440	N	AEFBI	0.020474	0.00813	N	-1.77921514338153	0.00598	0.02576686	-1.85602667437965	0.00596	0.0264733	1.20824973979081E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	0.814	-0.378	0.11875	0.142000	0.15917	-1.754000	0.04787	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.2533:0.3376:0.0	2.750	0.04954	604	0.67577	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.020631	0.015464	0.027331	0.026316	0.000000	0.000000	0.014085	0.018018	0.03125	3863.77	674	chr3	195788443	.	A	G	3863.77	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.733;DP=8172;ExcessHet=0;FS=4.001;InbreedingCoeff=0.2806;MLEAC=1;MLEAF=0.031;MQ=57.92;MQRankSum=-3.732;QD=11.04;ReadPosRankSum=7.1;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:563,0:563:99:.:.:0,120,1800:.	15	0	1	3
chr3	195788530	195788530	A	0	exonic	MUC4	.	.	.	.	496	1011	8	0	7	15	0.00394089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8145.32	554	chr3	195788530	.	A	*	8145.32	.	AC=1;AF=0.071;AN=14;BaseQRankSum=6.12;DP=6522;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.2667;MLEAC=2;MLEAF=0.143;MQ=56.73;MQRankSum=0.433;QD=11.13;ReadPosRankSum=-0.576;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:427,0:427:0:.:.:0,0,8183:.	6	0	1	12
chr3	195788539	195788539	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3041T:p.P1014L,MUC4:NM_001322468:exon4:c.C3041T:p.P1014L	.	470	1039	8	0	5	13	0.00383509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.000199681	0.0016	0.0138	0.0018	0	0	8.806e-05	0	0.0001	7.68e-05	2	26028	rs201510137	0.0002	0.0009	0.0002	0.0002	0.0051	0.0002	0.0002	0.0038	0.0036	0.0045	0.0002	0.0002	5.832e-05	2.052e-05	0.0051	7.068e-05	0.0006	0.0001	0.0003	0.0029	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0.0002	0.0005	0	0.014	0.53172	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.82	0.25344	T	-0.33	0.12472	N	0.067	0.03956	-0.9977	0.30563	T	0.028	0.12147	T	8	0.0065782964	0.00149	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.0017282372830762552	0.00159	.	.	0.449976801872	0.31940	T	.	.	.	-0.311002	0.07661	T	-0.684509	0.06712	T	0.0140130451045321	0.00270	T	0.687331	0.29630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.;.	.;.	1.275146	0.16744	12.74	0.87154692688318536	0.17026	0.00565	0.02569	N	AEFDBI	0.052069	0.09259	N	-1.1259136392453	0.06185	0.2840592	-1.19450581767164	0.06001	0.2875632	4.21802555500006E-5	0.03989	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	1.01	1.01	0.19044	4.418000	0.59580	-5.828000	0.01583	0.177000	0.17786	0.136000	0.23442	0.000000	0.08366	0.001000	0.02609	0.2757:0.0:0.7242:0.0	3.382	0.06835	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017429	0.015152	0.014205	0.036885	0.000000	0.037037	0.000000	0.011538	0.02941	8374.57	594	chr3	195788539	.	G	A	8374.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.14;DP=7052;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=56.57;MQRankSum=1.39;QD=11.32;ReadPosRankSum=1.26;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:449,0:449:99:.:.:0,120,1800:.	16	0	1	2
chr3	195788539	195788539	G	0	exonic	MUC4	.	.	.	.	470	1039	8	0	5	13	0.00383509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	8374.57	594	chr3	195788539	.	G	*	8374.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.14;DP=7052;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=56.57;MQRankSum=1.39;QD=11.32;ReadPosRankSum=1.26;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:449,0:449:99:.:.:0,120,1800:.	16	0	1	2
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	16785.5	539	chr3	195788543	.	T	*	16785.5	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.948;DP=6476;ExcessHet=0.8031;FS=0.556;InbreedingCoeff=-0.2398;MLEAC=2;MLEAF=0.111;MQ=57.24;MQRankSum=-4.112;QD=12.93;ReadPosRankSum=2.17;SOR=0.644	GT:AD:DP:GQ:PL	./.:408,0:408:0:0,0,9183	8	0	1	10
chr3	195788563	195788563	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3017T:p.A1006V,MUC4:NM_001322468:exon3:c.C3017T:p.A1006V	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000868104877413	.	.	0.0002	0.0008	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs773615692	4.353e-05	5.983e-05	3.439e-05	5.291e-05	0.0033	3.441e-05	3.096e-05	0.0021	0.0017	0	8.478e-05	4.025e-05	2.745e-05	0	0.0033	2.267e-05	0.0002	2.536e-05	8.596e-05	0.0002	7.757e-05	9.476e-05	0.0004	4.987e-05	3.986e-05	9.656e-05	7.028e-05	0.0002	0	0	0	0	0	0	4.428e-05	0	0.0004	0.04	0.42199	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.26	0.36512	T	-0.13	0.08971	N	0.039	0.03175	-1.0187	0.24139	T	0.040	0.17234	T	8	0.044014364	0.03312	T	8.68E-4	0.00777	T	0.020	0.03691	.	.	0.0846915920261	0.08053	9.431781503919801E-4	0.00087	.	.	0.485113561153	0.36762	T	.	.	.	-0.283248	0.10327	T	-0.644643	0.09334	T	0.226750567555428	0.21796	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	0.193817	0.05794	2.238	0.98905515571889735	0.48272	0.01534	0.05046	N	AEFDBI	0.045594	0.07473	N	-1.12421361549723	0.06215	0.2854847	-1.16969711000549	0.06421	0.3090449	1.81805118737094E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	1.24	1.24	0.20416	0.208000	0.17212	-0.601000	0.08270	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	8.535	0.32521	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010256	0.005051	0.006887	0.034161	0.000000	0.026786	0.003067	0.000000	0.02632	7939.33	555	chr3	195788563	.	G	A	7939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=6321;ExcessHet=0;FS=2.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=1.23;QD=18.51;ReadPosRankSum=2.53;SOR=0.888	GT:AD:DP:GQ:PL	0/0:419,0:419:99:0,120,1800	18	0	1	0
chr3	195788677	195788677	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2903T:p.T968M,MUC4:NM_001322468:exon3:c.C2903T:p.T968M	.	417	1085	20	0	0	20	0.00913242	.	.	.	2822249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0022	0.00499201	0.0032	0.0006	0.0008	0	0	0.0030	0.0052	0.0094	0.0025226	390	154602	rs62282503	0.0027	0.0027	0.0025	0.0029	0.0076	0.0026	0.0026	0.0072	0.0070	0.0007	0.0004	0.0165	5.04e-05	0	0.0057	0.0023	0.0043	0.0076	0.0020	0.0020	0.0021	0.0019	0.0104	0.0018	0.0017	0.0081	0.0073	0.0004	0.0088	0.0009	0.0173	0	0	0.0034	0.0022	0.0014	0.0104	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.119835	0.02715	N	2.069380	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.6	0.17834	N	0.13	0.26233	-1.0296	0.20583	T	0.034	0.14769	T	10	0.0057825744	0.00129	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.0031421507045275004	0.00293	.	.	0.356689542532	0.18903	T	.	.	.	-0.546085	0.00308	T	-0.551922	0.17142	T	0.0117893886558595	0.00182	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.	.;.	1.057089	0.14384	10.96	0.24927879123083707	0.01125	0.01512	0.04997	N	AEFBI	0.058391	0.10953	N	-1.31518238147632	0.03500	0.1564828	-1.36173198250375	0.03669	0.1716494	1.67131872455135E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.22	0.249	0.14790	0.934000	0.28510	0.036000	0.13800	-0.325000	0.05822	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1593:0.0:0.5729:0.2679	3.446	0.07050	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.02632	5774.33	315	chr3	195788677	.	G	A	5774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=3965;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=-1.731;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:235,0:235:99:.:.:0,120,1800:.	18	0	1	0
chr3	195788852	195788852	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A2728G:p.T910A,MUC4:NM_001322468:exon3:c.A2728G:p.T910A	.	415	1065	42	0	0	42	0.019337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0075	0.0155751	0.0096	0.0194	0.0042	0.0001	0.0002	0.0040	0.0102	0.0390	0.0090232	1395	154602	rs56943541	0.0062	0.0062	0.0051	0.0073	0.0404	0.0061	0.0060	0.0393	0.0388	0.0192	0.0040	0.0082	0.0002	0.0004	0.0156	0.0035	0.0080	0.0404	0.0092	0.0093	0.0089	0.0096	0.0391	0.0088	0.0087	0.0346	0.0328	0.0191	0.0011	0.0060	0.0075	0.0008	0.0003	0.0238	0.0039	0.0128	0.0391	0.0	0.91255	D	0.321	0.19073	T	.	.	.	.	.	.	0.277752	0.15003	N	0.551928	1	0.18198	N	.	.	.	0.96	0.42888	T	-0.5	0.15782	N	0.187	0.41853	-1.1053	0.03507	T	0.018	0.07565	T	10	0.0030997694	0.00051	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.005676888620947402	0.00537	.	.	0.379200518131	0.22144	T	.	.	.	-0.610085	0.00126	T	-0.619845	0.11197	T	0.0369301723646151	0.03144	T	0.491951	0.15143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22208	B	.;.	.;.	1.041610	0.14225	10.80	0.46889329741341601	0.03791	0.01682	0.05369	N	AEFBI	0.057494	0.10715	N	-0.773186617132331	0.14011	0.6945784	-0.859506745960561	0.13059	0.6753832	5.42944761998302E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	1.293000	0.32959	-0.008000	0.13101	0.588000	0.31329	0.010000	0.18352	0.000000	0.08366	0.004000	0.06068	0.0:0.145:0.0:0.855	4.692	0.12168	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.008152	0.011696	0.000000	0.000000	0.021341	0.030303	0.02632	2842.33	73	chr3	195788852	.	T	C	2842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=1443;ExcessHet=0;FS=7.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.507;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:99:.:.:0,120,1800:.	18	0	1	0
chr3	195870129	195870129	G	C	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001010938:exon11:c.C1600G:p.L534V,TNK2:NM_001308046:exon11:c.C1624G:p.L542V,TNK2:NM_001382271:exon11:c.C1624G:p.L542V,TNK2:NM_001382272:exon11:c.C1600G:p.L534V,TNK2:NM_001382273:exon11:c.C1528G:p.L510V,TNK2:NM_001382274:exon11:c.C1528G:p.L510V,TNK2:NM_001382275:exon11:c.C1624G:p.L542V,TNK2:NM_005781:exon11:c.C1528G:p.L510V	.	426	1081	14	1	0	16	0.00734619	.	.	.	1561896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0027	0.00299521	0.0036	0	0.0116	0	0	0.0046	0	0.0091	0.001423	220	154602	rs199636920	0.0026	0.0026	0.0025	0.0027	0.0105	0.0025	0.0025	0.0083	0.0075	0.0007	0.0049	0.0119	2.883e-05	0.0001	0.0105	0.0025	0.0037	0.0028	0.0025	0.0025	0.0024	0.0025	0.0053	0.0022	0.0022	0.0044	0.0040	0.0007	0	0.0053	0.0098	0.0002	0.0003	0.0068	0.0029	0.0043	0.0040	0.214	0.19361	T	0.621	0.20551	T	0.825	0.47121	P	0.327	0.46291	B	0.000159	0.49130	D	0.137530	0.960498	0.26144	N	0	0.06538	N	0.65	0.52642	T	-0.29	0.13226	N	0.452	0.48963	-1.1122	0.02887	T	0.075	0.30272	T	10	0.0076940656	0.00175	T	.	.	.	0.122	0.33800	.	.	0.834651424375	0.83307	0.12156457790278327	0.12083	0.0152577344784	0.01452	0.338176399469	0.16165	T	0.007432	0.29735	T	-0.5167	0.00460	T	-0.513614	0.20944	T	0.0119528158015316	0.00187	T	0.946005	0.86103	D	0.08645281	0.20096	0.060136728	0.11402	0.08645281	0.20095	0.060136728	0.11402	-4.678	0.33137	T	.	.	0.068	0.02861	B	.;.;.;.;.	.;.;.;.;.	3.378193	0.46710	22.3	0.98109772370810466	0.38343	0.98312	0.81520	D	AEFDBI	0.620664	0.60564	D	-0.141011003557913	0.35618	2.048193	-0.0452247894835639	0.37696	2.210776	0.999999921487396	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.39	3.59	0.40253	4.492000	0.60054	5.864000	0.50463	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1528:0.0:0.8472:0.0	11.102	0.47403	884	0.28482	Cdc42 binding domain-like;.;Cdc42 binding domain-like;Cdc42 binding domain-like;Cdc42 binding domain-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011759	0.000000	0.016620	0.005917	0.000000	0.035088	0.018634	0.003817	0.02632	1462.33	40	chr3	195870129	.	G	C	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.326;DP=881;ExcessHet=0;FS=2.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-1.259;SOR=0.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1163	18	0	1	0
chr3	195882073	195882073	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001010938:exon6:c.C937T:p.H313Y,TNK2:NM_001308046:exon6:c.C961T:p.H321Y,TNK2:NM_001382271:exon6:c.C961T:p.H321Y,TNK2:NM_001382272:exon6:c.C937T:p.H313Y,TNK2:NM_001382273:exon6:c.C865T:p.H289Y,TNK2:NM_001382274:exon6:c.C865T:p.H289Y,TNK2:NM_001382275:exon6:c.C961T:p.H321Y,TNK2:NM_005781:exon6:c.C865T:p.H289Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0415073987513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383078167	2.741e-06	2.736e-06	4.089e-06	1.379e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.032	0.58089	D	0.997	0.70673	D	0.748	0.59984	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.66	0.16226	N	-1.63	0.82440	D	-4.57	0.78721	D	0.741	0.75283	0.090	0.83996	D	0.511	0.81632	D	10	0.870664	0.86330	D	0.041507	0.59964	D	0.702	0.89284	0.78	0.90465	0.938431286101	0.93779	0.6908966824558921	0.69029	1.15268127864	0.79260	0.923464417458	0.98575	D	0.507785	0.82961	D	0.128036	0.67169	D	0.0429932	0.73124	D	0.838782012462616	0.49228	D	0.986201	0.95317	D	0.71261454	0.78751	0.55195427	0.74091	0.71261454	0.78752	0.55195427	0.74092	-13.617	0.91745	D	.	.	0.651	0.70958	P	.;.;.	.;.;.	5.063787	0.84412	28.3	0.99786944649170872	0.87308	0.99253	0.93488	D	AEFGBI	0.923046	0.89894	D	0.506360186177902	0.67463	5.085279	0.590579541093431	0.74260	6.107363	0.999977244616244	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.329000	0.72876	11.760000	0.95608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.125	0.86589	884	0.28482	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	36	chr3	195882073	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=759;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.482;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	18	0	1	0
chr3	196209422	196209422	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon3:c.G362A:p.R121H	.	425	1095	2	0	0	2	0.000912409	.	.	.	2374052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.343	0.0347767878889	.	.	0.0003	0	0.0004	0	0	0.0002	0.002	0.0010	0.0001617	25	154602	rs775236590	0.0001	0.0001	8.328e-05	0.0001	0.0016	9.301e-05	8.764e-05	0.0008	0.0006	0	0.0002	0	7.598e-05	0	0.0016	6.217e-05	0.0003	0.0006	8.534e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.953e-05	3.959e-05	0.0002	8.992e-05	7.215e-05	0	0.0001	0	0	0	0	7.349e-05	0	0.0006	0.001	0.78490	D	0.044	0.49663	D	0.999	0.77913	D	0.91	0.64641	D	0.001408	0.39109	N	0.117171	0.991741	0.41463	D	3.66	0.94269	H	1.74	0.26301	T	-4.73	0.80085	D	0.477	0.51226	-0.5957	0.64992	T	0.193	0.54564	T	10	0.51462287	0.62294	D	0.034777	0.55905	D	0.343	0.66488	0.744	0.87570	0.208816687407	0.20498	0.6706171266003973	0.66999	0.726573013998	0.62520	0.403994292021	0.25625	T	0.341003	0.70996	T	-0.181388	0.23530	T	-0.157778	0.58551	T	0.378758784420681	0.28135	T	0.942906	0.78488	D	0.36586678	0.58278	0.33060887	0.58928	0.36586678	0.58278	0.33060887	0.58927	-6.394	0.49463	T	.	.	0.113	0.22428	B	.	.	3.768575	0.54117	23.4	0.9995528318069874	0.99969	0.90722	0.52138	D	AEFDBI	0.552255	0.56399	D	0.704364679378554	0.79920	7.180542	0.636485064921647	0.77607	6.712228	0.99987344899622	0.44625	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.81	4.94	0.64645	2.483000	0.44891	1.103000	0.24087	0.599000	0.40250	1.000000	0.71638	0.981000	0.30433	0.971000	0.54645	0.0:0.914:0.0:0.086	10.878	0.46131	749	0.51929	Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	1409.33	42	chr3	196209422	.	C	T	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.1;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.782;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	18	0	1	0
chr3	196233080	196233080	C	T	exonic	SLC51A	.	nonsynonymous SNV	SLC51A:NM_152672:exon9:c.C904T:p.L302F	.	428	1087	7	0	0	7	0.00320954	.	.	.	3213728	SLC51A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.287	0.0338992608071	.	0.000599042	0.0009	9.61e-05	0.0002	0	0	4.497e-05	0.0011	0.0061	0.0007374	114	154602	rs530565206	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	0	6.708e-05	0	0	1.872e-05	0.0016	3.777e-05	0.0004	0.0066	0.0002	0.0002	6.423e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	1.47e-05	0	0.0054	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000506	0.43753	D	0.000000	1	0.81001	D	3.12	0.87914	M	0.67	0.52187	T	-2.93	0.61284	D	0.662	0.67132	-0.4245	0.71245	T	0.314	0.68389	T	10	0.029058963	0.01034	T	0.033899	0.55304	D	0.287	0.60574	0.673	0.81101	0.750896097382	0.74864	0.6149989480306773	0.61431	0.630607113728	0.57042	0.544940471649	0.45143	T	0.285911	0.65870	T	-0.117281	0.33568	T	0.0612304	0.74327	D	0.249617232013531	0.22856	T	0.821218	0.48050	T	0.20066597	0.42050	0.23545495	0.48790	0.20066597	0.42050	0.23545495	0.48789	-7.276	0.56024	T	.	.	0.442	0.61811	A	.	.	4.156843	0.62392	24.5	0.99893476299758754	0.96666	0.78575	0.38787	D	AEFGBHCI	0.718683	0.66980	D	0.71552006399303	0.80648	7.341501	0.684006168425629	0.81166	7.463277	0.999999977612648	0.74766	0.706298	0.61202	0	0.518115	0.08659	0	0.709663	0.75317	0	0.664235	0.64389	0	.	.	6.03	6.03	0.97798	1.292000	0.32948	4.911000	0.45953	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.979000	0.57723	0.0:0.9246:0.0:0.0754	13.371	0.60159	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2162.33	40	chr3	196233080	.	C	T	2162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.299;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1311	18	0	1	0
chr3	196323857	196323857	T	C	exonic	TM4SF19	.	nonsynonymous SNV	TM4SF19:NM_001204898:exon4:c.A512G:p.N171S,TM4SF19:NM_001204897:exon5:c.A586G:p.T196A,TM4SF19:NM_138461:exon5:c.A590G:p.N197S	.	414	1102	6	0	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.010352409184	0.0050	0.00159744	0.0043	0.0010	0.0025	0	0.0074	0.0063	0.0088	0.0006	0.0010996	170	154602	rs146878860	0.0052	0.0052	0.0053	0.0050	0.0058	0.0051	0.0050	0.0057	0.0056	0.0007	0.0030	0.0010	2.519e-05	0.0111	0.0047	0.0058	0.0045	0.0005	0.0041	0.0041	0.0041	0.0042	0.0057	0.0039	0.0037	0.0052	0.0051	0.0012	0.0011	0.0039	0.0014	0	0.0105	0.0102	0.0057	0.0033	0.0004	0.042	0.41637	D	0.159	0.31527	T	0.905	0.49920	P	0.426	0.45295	B	0.000104	0.50451	D	0.131131	0.83	0.34903	D	3.015	0.86134	M	1.43	0.32958	T	-4.31	0.76576	D	0.399	0.43995	-1.0621	0.11239	T	0.036	0.15640	T	10	0.007756263	0.00176	T	0.010352	0.26785	T	0.163	0.42028	.	.	0.350746614512	0.34690	0.7582464465980078	0.75772	0.684078331255	0.60201	.	.	.	0.102279	0.40985	T	-0.358703	0.04203	T	-0.283183	0.46477	T	0.0553786780900558	0.06421	T	0.767423	0.39577	T	0.22617799	0.45293	0.2721572	0.53123	0.22617799	0.45294	0.2721572	0.53122	-6.234	0.49353	T	.	.	0.092	0.13783	B	.;.	.;.	3.049380	0.40908	21.3	0.99575208005561144	0.72682	0.66983	0.33269	D	ALL	0.203177	0.32971	N	-0.285027751350199	0.29726	1.651027	-0.154954215413627	0.33219	1.897888	0.999999988880403	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.31	2.95	0.33285	1.873000	0.39195	1.525000	0.27119	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1958:0.0:0.8042	6.214	0.19860	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.002717	0.005848	0.050000	0.000000	0.000000	0.007576	0.02632	1567.33	40	chr3	196323857	.	T	C	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=771;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.943;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	18	0	1	0
chr3	196327567	196327567	C	A	exonic	TM4SF19	.	nonsynonymous SNV	TM4SF19:NM_001204897:exon2:c.G24T:p.Q8H,TM4SF19:NM_001204898:exon2:c.G24T:p.Q8H,TM4SF19:NM_138461:exon2:c.G24T:p.Q8H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00575507565025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.001	0.83351	D	0.09	0.25173	B	0.006	0.12133	B	0.969300	0.08170	N	0.984540	1	0.08975	N	0	0.06538	N	1.89	0.30401	T	-0.44	0.14588	N	0.145	0.21969	-1.0291	0.20746	T	0.046	0.19680	T	10	0.08431238	0.14119	T	0.005755	0.14922	T	0.077	0.22490	0.082	0.00727	0.0666544352282	0.05500	0.41087226751347145	0.41003	0.365871484556	0.38178	0.346125394106	0.17350	T	5.0E-4	0.00188	T	-0.292876	0.09349	T	-0.658472	0.08370	T	0.133821977686669	0.15730	T	0.259474	0.04134	T	0.060401097	0.12388	0.05709488	0.10317	0.060401097	0.12387	0.05709488	0.10317	-4.074	0.24905	T	.	.	0.165	0.36416	B	.;.;.	.;.;.	0.997295	0.13754	10.30	0.94910336921805161	0.25773	0.30661	0.24139	N	AEFDGBHI	0.113192	0.22343	N	-0.877578181244259	0.11377	0.5487282	-0.801807887587937	0.14453	0.7551701	0.999888630074587	0.44867	0.497415	0.19182	0	0.550933	0.16991	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	5.58	4.71	0.59010	2.059000	0.41010	1.527000	0.27132	-0.173000	0.11020	0.320000	0.25502	0.999000	0.35428	0.011000	0.09372	0.1724:0.8276:0.0:0.0	12.06	0.52854	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1494.33	38	chr3	196327567	.	C	A	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=852;ExcessHet=0;FS=5.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.644;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,111,1318:.	18	0	1	0
chr3	196371925	196371925	T	C	exonic	UBXN7	.	nonsynonymous SNV	UBXN7:NM_015562:exon6:c.A586G:p.I196V	.	428	1072	21	1	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00699320238984	0.0032	0.00159744	0.0025	0.0007	0.0019	0	0.0002	0.0036	0.0033	0.0016	0.0025032	387	154602	rs61742253	0.0028	0.0028	0.0028	0.0028	0.0080	0.0027	0.0027	0.0061	0.0055	0.0010	0.0039	0.0103	2.522e-05	0.0003	0.0080	0.0029	0.0034	0.0015	0.0023	0.0023	0.0024	0.0022	0.0036	0.0021	0.0021	0.0028	0.0026	0.0008	0	0.0036	0.0089	0	9.432e-05	0.0136	0.0031	0.0047	0.0019	0.017	0.53172	D	0.033	0.53788	D	0.035	0.20614	B	0.139	0.33484	B	0.000003	0.62929	D	0.102481	0.999947	0.51968	D	1.18	0.29980	L	0.93	0.44065	T	-0.71	0.20145	N	0.166	0.19861	-1.0823	0.06908	T	0.080	0.31765	T	10	0.0057495534	0.00128	T	0.006993	0.18513	T	0.053	0.14996	.	.	0.123314135267	0.11883	0.6019032175553808	0.60121	0.982007380805	0.73772	0.831505179405	0.86793	D	0.037788	0.24604	T	-0.514987	0.00470	T	-0.508515	0.21468	T	0.0262301213299861	0.01437	T	0.880812	0.59928	D	0.101016246	0.23857	0.09402935	0.22239	0.101016246	0.23857	0.09402935	0.22238	-6.84	0.52856	T	.	.	0.080	0.19998	B	.;.	.;.	3.148954	0.42619	21.6	0.99605104096503883	0.74456	0.90505	0.51737	D	AEFBI	0.177594	0.30484	N	-0.226282982509362	0.32058	1.803987	-0.0758118767059594	0.36392	2.117344	4.14668628775966E-4	0.06899	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	2.95	0.33285	3.216000	0.50878	4.131000	0.42030	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0736:0.2744:0.652	6.962	0.23779	912	0.21483	UAS;UAS	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.008772	0.000000	0.008621	0.003049	0.003788	0.02632	1873.33	35	chr3	196371925	.	T	C	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=751;ExcessHet=0;FS=1.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.09;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr3	196472505	196472505	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G1030A:p.A344T	RIDDLE syndrome, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	1154427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	7.7e-05	0.0201677	0.0101	0.0003	0.0007	0.0102	0	0	0.0066	0.0681	0.0089197	1379	154602	rs143837151	0.0044	0.0044	0.0026	0.0063	0.0657	0.0043	0.0043	0.0642	0.0637	0.0002	0.0001	0	0.0095	0	0.0023	5.126e-05	0.0051	0.0657	0.0028	0.0028	0.0016	0.0040	0.0704	0.0025	0.0024	0.0642	0.0618	0.0002	0	0.0001	0	0.0123	0	0	5.881e-05	0.0009	0.0704	0.09	0.31987	T	0.17	0.30436	T	0.024	0.19075	B	0.008	0.13708	B	0.542405	0.11522	N	0.782596	1	0.08975	N	1.585	0.39878	L	2.93	0.09822	T	-0.55	0.16799	N	0.08	0.05542	-1.0109	0.26635	T	0.022	0.09421	T	10	0.0034058094	0.00060	T	.	.	.	0.029	0.06676	.	.	.	.	0.10308734749577732	0.10238	0.067048045344	0.07489	0.19515812397	0.00330	T	0.001958	0.01365	T	-0.675578	0.00051	T	-0.692146	0.06266	T	0.00279983423963199	0.00029	T	0.542646	0.18460	T	0.02367948	0.01129	0.033994835	0.02388	0.02367948	0.01129	0.033994835	0.02388	-3.536	0.16940	T	.	.	0.075	0.05579	B	.	.	0.236985	0.06174	2.625	0.97013527114413256	0.31993	0.06090	0.12064	N	AEFDGBI	0.035513	0.04585	N	-0.776778590308673	0.13917	0.6891587	-0.862733429440971	0.12982	0.6709204	0.00192574776603112	0.09011	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	0.563	0.16481	-0.283000	0.08467	-0.412000	0.09340	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1392:0.5775:0.0:0.2833	4.917	0.13205	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.026515	0.05263	5852.83	35	chr3	196472505	.	C	T	5852.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.06;DP=1104;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.16;SOR=0.754	GT:AD:DP:GQ:PL	0/1:111,133:244:99:3522,0,3198	17	0	2	0
chr3	196508236	196508236	A	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.T296C:p.V99A,SMCO1:NM_001320473:exon3:c.T272C:p.V91A	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	.	0.0247604	0.0137	0.0002	0.0008	0.0102	0	1.498e-05	0.0078	0.0934	0.011908	1841	154602	rs118152136	0.0060	0.0060	0.0035	0.0085	0.0912	0.0059	0.0059	0.0895	0.0888	0.0003	0.0002	0	0.0096	0	0.0024	6.835e-05	0.0071	0.0912	0.0036	0.0035	0.0019	0.0053	0.0949	0.0033	0.0032	0.0878	0.0849	0.0002	0	0.0001	0	0.0124	0	0	5.88e-05	0.0014	0.0949	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.98502	0.24748	N	1.95	0.52479	M	1.06	0.39781	T	0.67	0.02263	N	0.019	0.00279	-1.0016	0.29459	T	0.034	0.14813	T	9	0.0012427568	0.00014	T	.	.	.	0.116	0.32463	.	.	.	.	0.047299551094572775	0.04672	0.269601559135	0.29478	.	.	.	0.00203	0.01442	T	-0.669071	0.00056	T	-0.66267	0.08086	T	0.00748855217213379	0.00087	T	0.387861	0.09571	T	0.028127715	0.02105	0.058714386	0.10896	0.028127715	0.02104	0.058714386	0.10895	-3.203	0.12517	T	.	.	0.139	0.30450	B	.	.	0.060417	0.04716	1.350	0.86693008397666127	0.16708	0.03899	0.09275	N	AEFDBIJ	0.046932	0.07849	N	-0.860176934644316	0.11800	0.5714887	-0.776231268759997	0.15079	0.7912207	0.999957956758676	0.48110	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-1.7	0.07721	-0.470000	0.06717	0.153000	0.15315	-0.045000	0.17359	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2974:0.3144:0.2361:0.1521	0.916	0.01223	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.000000	0.000000	0.000000	0.017241	0.006098	0.037879	0.05263	3946.83	34	chr3	196508236	.	A	G	3946.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=879;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.486;SOR=0.7	GT:AD:DP:GQ:PL	0/1:55,81:136:99:2120,0,1383	17	0	2	0
chr3	196569000	196569000	C	G	exonic	FBXO45	.	nonsynonymous SNV	FBXO45:NM_001105573:exon1:c.C16G:p.P6A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.00179712	0.5	.	.	.	0.5	.	.	.	0.0005563	86	154602	rs558273863	0.0115	0.0071	0.0114	0.0117	0.0123	0.0113	0.0112	0.0121	0.0120	0.0009	0.0050	0.0002	0	0.0133	0.0006	0.0123	0.0076	0	0.0068	0.0069	0.0071	0.0065	0.0105	0.0065	0.0063	0.0098	0.0096	0.0023	0.0088	0.0041	0	0	0.0146	0.0034	0.0105	0.0058	0	0.0	0.91255	D	0.639	0.06992	T	0.0	0.02946	B	0.0	0.01387	B	0.547622	0.11470	U	0.785958	0.600221	0.81001	D	0	0.06538	N	1.12	0.38718	T	-0.59	0.17624	N	0.165	0.17416	-1.0297	0.20551	T	0.051	0.21728	T	10	0.0016505718	0.00020	T	.	.	.	0.075	0.21907	.	.	.	.	0.1406002512993453	0.13983	1.09070707479	0.77418	0.85811662674	0.90833	D	0.079729	0.36197	T	-0.406398	0.02101	T	-0.344863	0.39794	T	0.229454927761091	0.21925	T	0.478452	0.14421	T	0.10312565	0.24374	0.12619613	0.30396	0.10312565	0.24373	0.12619613	0.30396	-1.429	0.01625	T	.	.	0.040	0.00014	B	.	.	2.538189	0.32831	19.16	0.97823150135365933	0.36207	0.36119	0.25460	N	ALL	0.134198	0.25413	N	-0.402478955627107	0.25382	1.37743	-0.233396781434518	0.30348	1.707938	0.999999918552013	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.61	2.65	0.30588	2.246000	0.42794	3.345000	0.37739	-0.231000	0.07715	0.995000	0.38783	1.000000	0.68203	0.176000	0.21171	0.1532:0.6141:0.1488:0.0839	4.708	0.12239	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	435.87	10	chr3	196569000	.	C	G	435.87	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=195;ExcessHet=0;FS=0;InbreedingCoeff=-0.0598;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.576;SOR=0.56	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,663	18	0	1	0
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y,SENP5:NM_152699:exon2:c.C907T:p.H303Y	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.011364	0.02632	2389.33	35	chr3	196886088	.	C	T	2389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.087;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.258;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	18	0	1	0
chr3	197006725	197006725	C	T	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon14:c.G1762A:p.E588K	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0546882376816	0.0007	0.000798722	0.0009	0.0002	0.0010	0	0	0.0011	0.0056	0.0008	0.0007762	120	154602	rs148616625	0.0007	0.0008	0.0007	0.0008	0.0121	0.0007	0.0007	0.0097	0.0089	0.0006	0.0013	0.0067	5.487e-05	3.974e-05	0.0121	0.0005	0.0019	0.0008	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0015	0.0013	0.0002	0	0.0021	0.0084	0	0	0.0068	0.0006	0.0014	0.0010	0.015	0.52492	D	0.078	0.42261	T	0.997	0.70673	D	0.94	0.67560	D	0.000008	0.62929	D	0.108239	0.999998	0.58761	D	3.13	0.88074	M	1.58	0.29085	T	-2.81	0.59389	D	0.416	0.45615	-0.7636	0.57209	T	0.200	0.55640	T	10	0.010332048	0.00230	T	0.054688	0.65950	D	0.187	0.46274	.	.	0.518254980372	0.51468	0.7490734779157914	0.74853	0.82219447341	0.67223	0.59067261219	0.51588	T	0.215804	0.57779	T	-0.29771	0.08878	T	-0.245968	0.50214	T	0.106486484408379	0.13056	T	0.836716	0.50835	T	0.36498472	0.58212	0.27067268	0.52960	0.36498472	0.58213	0.27067268	0.52959	-8.383	0.63652	D	.	.	0.129	0.27463	B	.	.	4.972240	0.82291	27.8	0.99892315631177309	0.96589	0.96154	0.67780	D	AEFDBI	0.766497	0.70265	D	0.597859871409838	0.73040	5.90171	0.513316811676655	0.68884	5.282195	0.999999999706137	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.37	5.37	0.76949	7.535000	0.80919	4.910000	0.45943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	16.594	0.84641	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.020202	0.017663	0.032164	0.000000	0.000000	0.003049	0.000000	0.02632	681.33	34	chr3	197006725	.	C	T	681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=671;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=-1.164;SOR=0.386	GT:AD:DP:GQ:PL	0/0:34,0:34:88:0,88,902	18	0	1	0
chr3	197142732	197142732	T	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon3:c.A325G:p.I109V,DLG1:NM_001204388:exon3:c.A325G:p.I109V,DLG1:NM_001366221:exon4:c.A424G:p.I142V,DLG1:NM_001366222:exon4:c.A424G:p.I142V,DLG1:NM_001366203:exon6:c.A520G:p.I174V,DLG1:NM_001366206:exon6:c.A520G:p.I174V,DLG1:NM_001366216:exon6:c.A520G:p.I174V,DLG1:NM_001366219:exon6:c.A520G:p.I174V,DLG1:NM_001366220:exon6:c.A520G:p.I174V,DLG1:NM_001204386:exon7:c.A574G:p.I192V,DLG1:NM_001363865:exon7:c.A574G:p.I192V,DLG1:NM_001366204:exon7:c.A574G:p.I192V,DLG1:NM_001366205:exon7:c.A574G:p.I192V,DLG1:NM_001366207:exon7:c.A574G:p.I192V,DLG1:NM_001366208:exon7:c.A574G:p.I192V,DLG1:NM_001366209:exon7:c.A574G:p.I192V,DLG1:NM_001366210:exon7:c.A574G:p.I192V,DLG1:NM_001366211:exon7:c.A574G:p.I192V,DLG1:NM_001366212:exon7:c.A574G:p.I192V,DLG1:NM_001366213:exon7:c.A574G:p.I192V,DLG1:NM_001366215:exon7:c.A574G:p.I192V,DLG1:NM_001366217:exon7:c.A574G:p.I192V,DLG1:NM_001098424:exon8:c.A673G:p.I225V,DLG1:NM_001290983:exon8:c.A673G:p.I225V,DLG1:NM_001366214:exon8:c.A673G:p.I225V,DLG1:NM_001366218:exon8:c.A673G:p.I225V,DLG1:NM_004087:exon8:c.A673G:p.I225V	.	24	1492	6	0	0	6	0.00200669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0127023113203	.	0.000199681	0.0004	0	0.0003	0	0	0.0001	0.0011	0.0025	0.0003558	55	154602	rs562094599	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	0.0004	3.835e-05	0	0	0.0007	3.695e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0017	9.735e-05	8.25e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0	5.88e-05	0	0.0017	0.135	0.37536	T	0.177	0.43721	T	0.984	0.60733	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.15	0.08895	N	1.78	0.25678	T	-0.84	0.24676	N	0.496	0.57946	-1.0595	0.11880	T	0.080	0.31824	T	10	0.022341877	0.00555	T	0.012702	0.31501	T	0.172	0.43662	0.482	0.56302	0.373217324921	0.36936	0.3489429753305964	0.34808	0.307434405692	0.33039	0.788109838963	0.80155	T	0.256253	0.62714	T	-0.376154	0.03294	T	-0.31988	0.42587	T	0.147298677308122	0.16887	T	0.962204	0.85735	D	0.36413282	0.58149	0.26848832	0.52718	0.36413282	0.58149	0.26848832	0.52717	-7.52	0.65484	D	.	.	0.441	0.64768	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.967599	0.58234	24.0	0.99761908464974558	0.85172	0.98931	0.88793	D	AEFGBI	0.895224	0.83502	D	0.383524556899122	0.60530	4.24279	0.473856897549177	0.66263	4.929342	0.99999991135709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	7.674000	0.83146	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.840	0.69849	898	0.25240	.;PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	2011.81	40	chr3	197142732	.	T	C	2011.81	.	AC=2;AF=0.053;AN=38;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.74;SOR=0.874	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	1	0	0
chr3	197768445	197768445	G	T	exonic	FYTTD1	.	nonsynonymous SNV	FYTTD1:NM_032288:exon3:c.G242T:p.G81V,FYTTD1:NM_001011537:exon4:c.G164T:p.G55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0715372049021	7.7e-05	.	7.432e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs374772494	6.882e-05	7.183e-05	6.025e-05	7.747e-05	8.494e-05	5.747e-05	5.358e-05	7.081e-05	6.571e-05	0	0	0	0	7.522e-05	0	8.494e-05	3.332e-05	0	7.89e-05	8.539e-05	7.712e-05	8.077e-05	0.0001	4.5e-05	3.515e-05	6.805e-05	5.088e-05	0	0	0.0001	0	0	9.43e-05	0	0.0001	0	0	0.013	0.57480	D	0.058	0.49120	T	1.0	0.90584	D	0.999	0.97372	D	0.000203	0.47681	D	0.217498	1	0.81001	D	2.125	0.59049	M	0.24	0.59583	T	-6.61	0.96736	D	0.465	0.56145	-0.4421	0.70660	T	0.321	0.69030	T	10	0.61023057	0.67403	D	0.071537	0.71296	D	0.402	0.71558	.	.	0.272557281605	0.26857	0.4053870992343222	0.40454	0.762354738883	0.64337	0.503435671329	0.39306	T	0.106435	0.41778	T	-0.121937	0.32807	T	-0.153251	0.58954	T	0.696983516216278	0.40575	D	0.732927	0.34859	T	0.471531	0.65385	0.45887175	0.68561	0.471531	0.65385	0.45887175	0.68562	-3.479	0.17582	T	.	.	0.375	0.58132	A	.;.;.;.;.	.;.;.;.;.	3.696017	0.52685	23.3	0.9965577884771335	0.77631	0.93826	0.59302	D	AEFBI	0.540197	0.55686	D	0.613698005191099	0.74039	6.065653	0.569400356760017	0.72757	5.860488	0.00591845557050739	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	4.27	0.50009	4.637000	0.61044	7.221000	0.57847	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.0:0.8292:0.1707	12.170	0.53461	776	0.48302	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1087.33	33	chr3	197768445	.	G	T	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.682;DP=721;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.178;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	18	0	1	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N,LRCH3:NM_001365715:exon10:c.A1293C:p.K431N,LRCH3:NM_001365716:exon10:c.A1293C:p.K431N,LRCH3:NM_001365717:exon10:c.A1293C:p.K431N,LRCH3:NM_001365718:exon10:c.A1293C:p.K431N,LRCH3:NM_001365719:exon10:c.A1293C:p.K431N,LRCH3:NM_032773:exon10:c.A1293C:p.K431N	.	434	1076	11	1	0	13	0.00600462	.	.	.	3190643	LRCH3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005102	0.020380	0.026316	0.000000	0.008621	0.003049	0.000000	0.07895	3008.79	34	chr3	197839362	.	A	C	3008.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.014;DP=817;ExcessHet=0.3672;FS=2.656;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.2;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	16	0	3	0
chr4	272166	272166	T	C	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.A691G:p.I231V	.	419	1096	5	2	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.000764672128026	0.0015	0.000998403	0.0016	0.0002	0.0013	0	0	0.0021	0.0012	0.0023	0.0014489	224	154602	rs144919218	0.0020	0.0020	0.0020	0.0021	0.0024	0.0020	0.0020	0.0022	0.0022	0.0002	0.0012	0.0017	2.523e-05	0.0001	0.0024	0.0023	0.0022	0.0021	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0007	0.0009	0	9.464e-05	0	0.0023	0.0014	0.0019	0.222	0.18823	T	0.123	0.35582	T	0.016	0.17332	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	2.34	0.16351	T	0.61	0.02480	N	0.051	0.02272	-0.9812	0.34724	T	0.013	0.05273	T	9	0.012317002	0.00265	T	7.65E-4	0.00549	T	0.072	0.21020	.	.	0.0138822411134	0.00435	0.00204553568814534	0.00189	0.018289461423	0.01786	0.287587076426	0.08571	T	0.001919	0.01337	T	-0.724101	0.00026	T	-0.819373	0.01465	T	0.00118991917286493	0.00012	T	0.131687	0.01039	T	0.024258869	0.01240	0.04367557	0.05487	0.024258869	0.01240	0.04367557	0.05487	-2.575	0.06315	T	.	.	0.076	0.05979	B	.;.	.;.	-0.468614	0.01970	0.171	0.76111669369923041	0.11337	0.00669	0.02886	N	AEFGBCI	0.032875	0.03794	N	-1.28412719342455	0.03866	0.1734751	-1.32394777230922	0.04123	0.1937903	0.00193757712823218	0.09019	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.946	-0.308	0.12139	-2.502000	0.01042	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2852:0.0:0.7148	3.942	0.08827	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002648	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.003788	0.02632	953.33	41	chr4	272166	.	T	C	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.366;DP=777;ExcessHet=0;FS=2.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.16;SOR=0.602	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005550	0.000000	0.002717	0.005848	0.000000	0.000000	0.012270	0.011364	0.02632	1180.33	37	chr4	295462	.	G	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=717;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.893;SOR=0.823	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1284	18	0	1	0
chr4	443038	443038	G	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C1429G:p.Q477E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000448489632608	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1260573139	6.842e-06	1.3e-05	9.531e-06	4.127e-06	3.478e-05	3.46e-06	2.52e-06	9.24e-06	4.56e-06	0	2.237e-05	0	0	5.621e-05	0	2.699e-06	0	3.478e-05	6.577e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.095	0.04716	N	3.2	0.07236	T	1.59	0.00660	N	0.085	0.15469	-0.9923	0.32012	T	0.007	0.02244	T	9	0.03588298	0.01858	T	4.48E-4	0.00107	T	0.010	0.01040	0.436	0.48828	0.0297737177859	0.01360	0.023733510322340532	0.02325	0.0150299860871	0.01430	0.257909834385	0.04645	T	1.41E-4	0.00020	T	-0.53848	0.00342	T	-0.842137	0.01067	T	0.0143588420002369	0.00288	T	0.717128	0.32987	T	0.02941972	0.02434	0.031573538	0.01765	0.02941972	0.02434	0.031573538	0.01765	2.728	0.00030	T	.	.	0.050	0.00145	B	.;.	.;.	-1.390028	0.00367	0.007	0.28286990665899414	0.01445	0.00000	0.00017	N	AEFDGBHCI	0.013455	0.00179	N	-2.47009730337398	0.00019	0.0008092529	-2.49880825969549	0.00023	0.001029596	0.88807391003443	0.25780	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	-2.199000	0.01323	.	.	-1.929000	0.00500	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5161:0.3089:0.175	5.761	0.17465	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1323.33	39	chr4	443038	.	G	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=709;ExcessHet=0;FS=4.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.73;MQRankSum=-0.924;QD=16.97;ReadPosRankSum=-0.911;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1338	18	0	1	0
chr4	654863	654863	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001145292:exon4:c.G130A:p.G44S,PDE6B:NM_001350154:exon4:c.G130A:p.G44S,PDE6B:NM_001379246:exon4:c.G130A:p.G44S,PDE6B:NM_001379247:exon4:c.G130A:p.G44S,PDE6B:NM_000283:exon6:c.G967A:p.G323S,PDE6B:NM_001145291:exon6:c.G967A:p.G323S	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	892052	Congenital_stationary_night_blindness_autosomal_dominant_2|not_provided|Retinal_dystrophy|Retinitis_pigmentosa	MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.431	0.0249782502675	.	0.00139776	0.0003	0	0	0.0037	0	4.518e-05	0	6.058e-05	0.0002846	44	154602	rs140224236	0.0001	0.0002	0.0002	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	6.13e-05	0	0	0.0044	0	0	1.87e-05	0.0002	4.688e-05	0.0002	0.0002	0.0002	0.0002	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	4.442e-05	0.0005	0.0002	0.059	0.59928	T	0.026	0.69154	D	0.674	0.42361	P	0.345	0.46961	B	0.000182	0.48115	D	0.179987	1	0.81001	D	1.855	0.49169	L	-0.22	0.74896	T	-3.62	0.83027	D	0.664	0.67477	-0.3312	0.74098	T	0.321	0.69021	T	10	0.01349321	0.00286	T	0.024978	0.47963	T	0.431	0.73735	.	.	0.895324698227	0.89429	0.5497008890001466	0.54896	0.497184019327	0.48212	0.786742091179	0.79946	T	0.724945	0.92255	D	-0.168495	0.25463	T	-0.0162803	0.69274	D	0.143936469913823	0.16609	T	0.928807	0.74365	D	0.26999554	0.50071	0.25338337	0.50985	0.26999554	0.50071	0.25338337	0.50984	-10.486	0.77157	D	.	.	0.146	0.48756	B	.;.;.;.	.;.;.;.	4.571351	0.72134	25.8	0.99811246689350919	0.89531	0.99409	0.95660	D	AEFBI	0.930427	0.91771	D	0.412700597148136	0.62118	4.422767	0.422077444512614	0.62943	4.518603	0.99999999985894	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.67	4.67	0.58089	9.605000	0.97771	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.468	0.75149	799	0.44747	.;GAF domain|GAF domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1470.33	38	chr4	654863	.	G	A	1470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1182;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.555;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,111,1665:.	18	0	1	0
chr4	683263	683263	C	G	exonic	SLC49A3	.	nonsynonymous SNV	SLC49A3:NM_001294342:exon6:c.G744C:p.E248D,SLC49A3:NM_001378059:exon6:c.G810C:p.E270D,SLC49A3:NM_001378060:exon6:c.G807C:p.E269D,SLC49A3:NM_001378062:exon6:c.G741C:p.E247D,SLC49A3:NM_001378061:exon7:c.G864C:p.E288D,SLC49A3:NM_001294341:exon8:c.G1101C:p.E367D,SLC49A3:NM_032219:exon8:c.G1098C:p.E366D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0881293284109	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762229082	6.847e-06	6.84e-06	1.09e-05	2.753e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.775e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.031	0.92824	D	1.0	0.90584	D	0.994	0.92359	D	0.000000	0.84330	D	0.051238	0.92326	0.36741	D	.	.	.	0.2	0.60111	T	-2.91	0.60982	D	0.836	0.89353	-0.2946	0.75136	T	0.388	0.74320	T	10	0.58678776	0.66156	D	0.088129	0.75073	D	0.404	0.71714	0.486	0.56939	0.481764910267	0.47805	0.7369957987052639	0.73644	0.407320109327	0.41596	0.668996274471	0.62694	T	0.549357	0.84713	D	0.116399	0.66009	D	-0.0705775	0.65585	T	0.848496675491333	0.50036	D	0.90461	0.66442	D	0.60056776	0.72721	0.43808076	0.67206	0.60056776	0.72722	0.43808076	0.67206	-5.721	0.53814	T	.	.	0.784	0.81604	P	.;.;.;.;.;.	.;.;.;.;.;.	2.681555	0.34985	19.78	0.99833876398783694	0.91542	0.53318	0.29343	D	AEFDBHCI	0.288698	0.40052	N	0.165340216156552	0.49541	3.153297	-0.00591728904100658	0.39447	2.339057	0.999999438154617	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.52	1.79	0.23992	0.579000	0.23490	.	.	-0.781000	0.03322	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.6862:0.0:0.3138	6.356	0.20604	830	0.39242	.;.;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	34	chr4	683263	.	C	G	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=882;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.241;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1449	18	0	1	0
chr4	967324	967324	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon9:c.C1025T:p.P342L	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.146182147225	.	0.000798722	0.0019	0	0	0	0	0	0.0068	0.0035	0.0003234	50	154602	rs562323950	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	9.483e-05	0.0002	0	0	0	0.0004	1.853e-06	0.0003	0.0038	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	2.409e-05	0	0.0001	0	0	0	0	0	0	0.0050	0.002	0.72154	D	0.003	0.76473	D	0.391	0.34615	B	0.116	0.31939	B	0.178888	0.17158	N	0.601882	0.527245	0.31520	N	1.545	0.39105	L	-1.49	0.81235	T	-7.48	0.94988	D	0.313	0.35301	-0.4804	0.69352	T	0.290	0.66162	T	10	0.012206435	0.00263	T	0.146182	0.82832	D	0.136	0.36778	.	.	0.649035832876	0.64612	0.6024372995849713	0.60174	0.130263863456	0.14695	0.397039592266	0.24656	T	0.353167	0.72050	T	-0.341401	0.05292	T	-0.264648	0.48358	T	0.0848751010301582	0.10598	T	0.531147	0.17633	T	0.17504266	0.38342	0.21134275	0.45558	0.17504266	0.38341	0.21134275	0.45557	-10.452	0.76571	D	.	.	0.108	0.20313	B	.	.	2.691555	0.35134	19.82	0.97911695776239105	0.36815	0.21045	0.21261	N	AEFDBCI	0.099058	0.19948	N	-0.511478226432613	0.21708	1.154043	-0.559384418060888	0.20557	1.108078	0.99920630547092	0.38742	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.636168	0.56350	0	.	.	4.92	1.95	0.25130	1.407000	0.34266	.	.	0.676000	0.76740	0.301000	0.25333	1.000000	0.68203	0.024000	0.12247	0.1117:0.1789:0.4978:0.2116	2.223	0.03733	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001582	0.005682	0.000000	0.000000	0.000000	0.000000	0.000000	0.007874	0.02632	243.33	34	chr4	967324	.	G	A	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.152;SOR=0.791	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,718	18	0	1	0
chr4	973283	973283	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.C200T:p.T67M	.	396	1109	17	0	0	17	0.00760626	.	.	.	2668283	Usher_syndrome	MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	.	0.0002	0.0269569	0.0273	0.0010	0.0011	0.0025	0	0.0003	0.0033	0.1194	0.0107696	1665	154602	rs369795656	0.0055	0.0058	0.0029	0.0082	0.0918	0.0054	0.0054	0.0900	0.0893	0.0005	0.0002	0	0.0009	2.028e-05	0.0054	4.183e-05	0.0067	0.0918	0.0038	0.0038	0.0019	0.0057	0.1026	0.0035	0.0034	0.0951	0.0921	0.0012	0	0.0007	0	0.0029	0	0	2.945e-05	0.0005	0.1026	0.028	0.46129	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000045	0.53742	U	0.000000	0.999947	0.51968	D	3.105	0.87672	M	2.53	0.14038	T	-3.28	0.65627	D	0.199	0.21969	-1.1300	0.01782	T	0.076	0.30645	T	10	0.0031601489	0.00053	T	.	.	.	0.180	0.45073	.	.	.	.	0.3839489449363259	0.38309	0.5886941255	0.54410	0.91642165184	0.98039	D	0.652037	0.89453	D	-0.483532	0.00706	T	-0.394379	0.34039	T	0.0736102005167175	0.09149	T	0.914409	0.69449	D	0.17884614	0.38926	0.16036269	0.37354	0.17884614	0.38926	0.16036269	0.37353	-10.716	0.78077	D	.	.	0.545	0.66566	A	.	.	4.914247	0.80885	27.4	0.99812290388577851	0.89620	0.38952	0.26104	N	AEFDBCIJ	0.137194	0.25810	N	0.222820973628795	0.52306	3.405655	0.0608476031219107	0.42598	2.57942	0.999999938097098	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.08	0.19456	5.430000	0.66239	.	.	0.559000	0.28343	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1727:0.0:0.8273:0.0	6.323	0.20435	759	0.50631	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010960	0.005495	0.004167	0.000000	0.000000	0.017544	0.003268	0.034615	0.02632	1137.33	33	chr4	973283	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=702;ExcessHet=0;FS=1.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.389;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1044	18	0	1	0
chr4	973287	973287	C	T	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.G196A:p.V66M	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.831394296602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301134628	8.693e-06	1.026e-05	5.751e-06	1.168e-05	0.0002	4.64e-06	3.66e-06	1.031e-05	4.86e-06	0	0	0	0	0	0.0002	6.514e-06	1.774e-05	3.883e-05	6.584e-06	6.567e-06	1.287e-05	0	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.026	0.46910	D	0.05	0.48080	T	0.999	0.77913	D	0.999	0.92359	D	0.000232	0.47286	U	0.000000	0.999882	0.50402	D	1.975	0.53506	M	1.98	0.21865	T	0.02	0.06739	N	0.264	0.29889	-1.1056	0.03476	T	0.074	0.29802	T	10	0.5548644	0.64460	D	0.831394	0.98693	D	0.114	0.32008	0.337	0.32654	0.223146558224	0.21909	0.3225320178616927	0.32166	0.569347464813	0.53119	0.936134576797	0.99298	D	0.306644	0.67884	T	-0.138838	0.30074	T	-0.437208	0.29121	T	0.836469888687134	0.49041	D	0.955504	0.83071	D	0.12224069	0.28730	0.112119876	0.27051	0.12224069	0.28730	0.112119876	0.27050	-10.577	0.77288	D	.	.	0.847	0.79600	P	.	.	5.093555	0.85075	28.5	0.99817336319022198	0.90061	0.36211	0.25481	N	AEFDBCI	0.237078	0.35942	N	0.0144232460407465	0.42510	2.56277	-0.112336844489406	0.34892	2.012252	0.999999999796079	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.96	0.25203	3.153000	0.50383	.	.	0.498000	0.22619	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	9.575	0.38615	759	0.50631	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	33	chr4	973287	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.538;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=2.09;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1044	18	0	1	0
chr4	989459	989459	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1480A:p.V494I,SLC26A1:NM_213613:exon4:c.G1480A:p.V494I	.	428	1091	3	0	0	3	0.001373	.	.	.	2113188	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.280179036853	.	0.000599042	0.0016	0	0	0	0	0	0	0.0032	0.0002393	37	154602	rs199694618	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0.0001	0	0	0	0	0.0002	1.295e-05	0.0003	0.0035	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0031	0.0026	4.809e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0046	0.129	0.26852	T	0.295	0.20680	T	0.003	0.11197	B	0.008	0.13708	B	0.012377	0.29198	N	0.378699	0.998094	0.22354	N	1.31	0.32734	L	-3.44	0.94428	D	-0.49	0.15578	N	0.069	0.04188	-0.2860	0.75376	T	0.603	0.85881	D	10	0.008259565	0.00187	T	0.280179	0.90202	D	0.215	0.50805	.	.	0.658058094355	0.65520	0.3681338482855599	0.36727	0.0900235829722	0.10153	0.473074704409	0.35103	T	0.096507	0.39838	T	-0.394719	0.02507	T	-0.341869	0.40132	T	0.0128556063939229	0.00220	T	0.681032	0.28992	T	0.028216984	0.02127	0.03681597	0.03206	0.028216984	0.02126	0.03681597	0.03205	-4.789	0.34463	T	0.15116184691112367	0.17811	0.069	0.03407	B	.;.	.;.	-0.091983	0.03689	0.749	0.89576116082224444	0.18915	0.09064	0.14894	N	AEFBHCI	0.043660	0.06928	N	-1.16428600483846	0.05548	0.2532434	-1.25232128878248	0.05097	0.2420428	0.995873510546317	0.34380	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.14	-3.06	0.05053	-0.055000	0.11763	.	.	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.149000	0.20271	0.0:0.3593:0.432:0.2087	7.949	0.29163	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003112	0.000000	0.002809	0.003086	0.000000	0.000000	0.003125	0.007812	0.02632	1106.33	42	chr4	989459	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=957;ExcessHet=0;FS=11.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.264;SOR=0.973	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr4	989606	989606	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1333A:p.V445I,SLC26A1:NM_213613:exon4:c.G1333A:p.V445I	.	426	1078	18	0	0	18	0.00827967	.	.	.	1154862	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.244	.	0.0057	0.0279553	0.0266	0.0370	0.0052	0.0028	0	0.0002	0.0156	0.1049	0.0108925	1684	154602	rs144218313	0.0056	0.0056	0.0033	0.0078	0.0801	0.0055	0.0054	0.0785	0.0779	0.0198	0.0013	0	0.0014	0	0.0062	5.415e-05	0.0075	0.0801	0.0090	0.0090	0.0077	0.0103	0.0880	0.0086	0.0084	0.0811	0.0783	0.0206	0	0.0030	0	0.0031	0	0	0.0001	0.0076	0.0880	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.02	0.19048	B	0.000014	0.62929	N	0.147984	1	0.81001	D	-1.32	0.00691	N	-2.85	0.91363	D	0.64	0.02368	N	0.03	0.00882	-0.7592	0.57449	T	0.144	0.46587	T	10	0.002918154	0.00047	T	.	.	.	0.244	0.55061	.	.	.	.	0.1648016049755078	0.16400	0.0927899638918	0.10482	0.517632961273	0.41293	T	0.319424	0.69071	T	-0.503852	0.00544	T	-0.437345	0.29106	T	0.0043503390599124	0.00046	T	0.769523	0.39899	T	0.021258948	0.00719	0.038369723	0.03691	0.020941088	0.00672	0.038369723	0.03690	-2.504	0.05808	T	0.047817327462913166	0.00712	0.069	0.03093	B	.;.	.;.	0.338131	0.07118	3.695	0.93267744451170786	0.22965	0.28434	0.23553	N	AEFDBCI	0.067344	0.13233	N	-1.06657547264214	0.07266	0.3370261	-0.909585079733314	0.11868	0.6072241	0.992335119144118	0.32802	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.14	-0.402	0.11786	2.086000	0.41268	.	.	0.594000	0.32500	0.989000	0.36753	0.000000	0.08366	0.632000	0.32210	0.0:0.3274:0.0:0.6726	8.133	0.30195	794	0.45591	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012742	0.000000	0.002725	0.002976	0.000000	0.017241	0.003185	0.030303	0.02632	1388.33	42	chr4	989606	.	C	T	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=919;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.412;SOR=0.589	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr4	990014	990014	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G925A:p.G309R,SLC26A1:NM_213613:exon4:c.G925A:p.G309R	.	.	.	.	.	.	.	.	.	.	.	3728119	Hypersulfaturia|Nephrolithiasis_susceptibility_caused_by_SLC26A1	MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372|MONDO:MONDO:0020722,MedGen:C5779632,OMIM:167030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.721	0.502556626089	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs754987516	8.403e-06	1.3e-05	8.329e-06	8.478e-06	4.886e-05	4.48e-06	3.54e-06	1.64e-05	9.69e-06	3.043e-05	0	0	0	0	0	5.469e-06	1.69e-05	4.886e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.049	0.39820	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.000014	0.62929	D	0.150552	1	0.81001	D	2.765	0.80766	M	-3.14	0.92884	D	-3.78	0.71519	D	0.824	0.81957	0.858	0.95125	D	0.860	0.95329	D	10	0.9628824	0.95721	D	0.502557	0.95175	D	0.721	0.90146	0.509	0.60540	0.97683647753	0.97658	0.9411011065769828	0.94091	0.596916655159	0.54907	0.556384980679	0.46757	T	0.634916	0.88732	D	0.286568	0.81871	D	0.173859	0.81637	D	0.9553582072258	0.64487	D	0.854615	0.54143	D	0.21256314	0.43612	0.24696177	0.50217	0.21256314	0.43612	0.24696177	0.50216	-12.133	0.85493	D	0.7122774498699256	0.79266	0.472	0.63277	A	.;.	.;.	4.558076	0.71801	25.7	0.99874599304776612	0.95160	0.93348	0.57977	D	AEFBCI	.	.	.	0.525694475951736	0.68613	5.241527	0.396334188138654	0.61339	4.332551	0.999999722255083	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.24	5.24	0.72863	3.873000	0.55806	.	.	0.599000	0.40250	0.954000	0.33273	0.994000	0.32194	0.299000	0.24476	0.1804:0.8195:0.0:0.0	11.424	0.49241	799	0.44747	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1134.33	42	chr4	990014	.	C	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=924;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.322;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1210:.	18	0	1	0
chr4	990226	990226	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G713A:p.R238Q,SLC26A1:NM_213613:exon4:c.G713A:p.R238Q	.	.	.	.	.	.	.	.	.	.	.	3046115	Inborn_genetic_diseases|not_provided|Hypersulfaturia|Nephrolithiasis_susceptibility_caused_by_SLC26A1	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0957268,MedGen:C5830511,OMIM:620372|MONDO:MONDO:0020722,MedGen:C5779632,OMIM:167030	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.756	0.21485119747	7.8e-05	.	4.095e-05	0	0	0	0	8.909e-05	0	0	8.41e-05	13	154602	rs200857252	0.0001	0.0001	0.0001	0.0001	0.0001	9.399e-05	8.914e-05	0.0001	0.0001	0	0	0	0	4.071e-05	0	0.0001	0.0001	2.48e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.016	0.51853	D	0.006	0.70582	D	0.935	0.52277	P	0.668	0.53048	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.665	0.77964	M	-3.24	0.93474	D	-3.51	0.68298	D	0.464	0.50418	0.879	0.95398	D	0.847	0.94878	D	10	0.6479009	0.69433	D	0.214851	0.87478	D	0.756	0.91668	.	.	0.924042124721	0.92327	0.7508138612512643	0.75028	0.327190081899	0.34854	0.49987244606	0.38810	T	0.661119	0.89832	D	0.0590163	0.59489	T	0.0128525	0.71166	D	0.925995886325836	0.58803	D	0.868713	0.57175	D	0.48594895	0.66259	0.32440868	0.58365	0.48594895	0.66260	0.32440868	0.58365	-7.242	0.55782	T	0.3640853767393685	0.46025	0.111	0.21578	B	.;.	.;.	4.363771	0.67123	25.1	0.99931741703462007	0.99387	0.93922	0.59581	D	AEFBCI	.	.	.	0.545043359619039	0.69781	5.405954	0.490007839716595	0.67327	5.069099	0.999999999999802	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.82	4.82	0.61641	4.943000	0.63255	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.313000	0.24807	0.0:1.0:0.0:0.0	15.405	0.74593	799	0.44747	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	42	chr4	990226	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-0.371;SOR=0.676	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	991630	991630	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon2:c.G74A:p.R25Q,SLC26A1:NM_134425:exon2:c.G74A:p.R25Q,SLC26A1:NM_213613:exon3:c.G74A:p.R25Q	.	234	1269	19	0	0	19	0.00743058	.	.	.	1646966	SLC26A1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.143261176074	0.0009	0.000798722	0.0010	0.0003	0.0005	0	0	0.0012	0	0.0024	0.0008279	128	154602	rs35719765	0.0010	0.0010	0.0009	0.0012	0.0156	0.0010	0.0010	0.0129	0.0120	0.0005	0.0007	4.101e-05	0	5.308e-05	0.0156	0.0009	0.0018	0.0025	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0010	0.0010	0.0002	0	0.0012	0	0.0002	0	0.0136	0.0012	0.0033	0.0017	0.737	0.04864	T	0.608	0.07842	T	0.0	0.02946	B	0.0	0.01387	B	0.021946	0.01563	N	3.198590	0.999999	0.08975	N	-1.32	0.00691	N	-3.0	0.93054	D	0.1	0.05810	N	0.078	0.05929	-0.4471	0.70496	T	0.391	0.74524	T	10	0.0065609515	0.00149	T	0.143261	0.82560	D	0.262	0.57482	.	.	0.347659731818	0.34379	0.14615171333840088	0.14537	0.128866554687	0.14530	0.388208150864	0.23417	T	0.050409	0.28586	T	-0.471187	0.00836	T	-0.454842	0.27163	T	0.00322538279905694	0.00034	T	0.378562	0.09103	T	0.017236993	0.00257	0.022291442	0.00257	0.020795481	0.00651	0.023041084	0.00320	-4.073	0.24891	T	.	.	0.077	0.06250	B	.;.;.;.	.;.;.;.	-0.825641	0.01058	0.046	0.74783645981953928	0.10825	0.01482	0.04930	N	AEFBCI	0.024178	0.01456	N	-2.33826053942339	0.00037	0.001602423	-2.39964868108738	0.00039	0.001727806	0.999999999999847	0.74766	0.562547	0.31514	0	0.550933	0.16991	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.3	-10.6	0.00212	-2.664000	0.00921	.	.	-1.645000	0.00834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1519:0.385:0.1872:0.2758	3.081	0.05885	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017137	0.000000	0.014946	0.032164	0.100000	0.008621	0.018293	0.000000	0.02632	2836.33	220	chr4	991630	.	C	T	2836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=989;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.131;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	18	0	1	0
chr4	1000623	1000623	G	A	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_000203:exon3:c.G311A:p.G104E	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.142294619002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.72154	T	0.04	0.64786	D	0.581	0.38837	P	0.295	0.40843	B	0.000268	0.46590	N	0.187058	1	0.29663	N	2.225	0.63025	M	-3.58	0.94940	D	-3.47	0.67824	D	0.232	0.26111	-0.1465	0.79002	T	0.663	0.88295	D	10	0.74538666	0.75251	D	0.142295	0.82467	D	0.322	0.64420	0.739	0.87147	0.877299523983	0.87610	0.5513036997013311	0.55056	0.259643023366	0.28522	0.347984731197	0.17625	T	0.681935	0.90669	D	0.108098	0.65154	D	-0.082501	0.64720	T	0.837755143642426	0.49145	D	0.59824	0.22282	T	0.47437567	0.65558	0.22811449	0.47843	0.47437567	0.65559	0.22811449	0.47842	-6.723	0.51984	T	0.15666730776908105	0.18865	0.091	0.22717	B	.;.;.;.	.;.;.;.	1.200164	0.15924	12.20	0.92471380694235716	0.21900	0.19733	0.20775	N	AEFBCI	0.102644	0.20585	N	-0.8104110428469	0.13044	0.6398679	-0.892757631695758	0.12265	0.6298985	0.0148143491039389	0.12642	0.676563	0.55306	0	0.694456	0.67091	0	0.61531	0.40942	0	0.600526	0.37237	0	.	.	4.97	0.42	0.15663	2.350000	0.43718	.	.	-0.106000	0.15538	0.990000	0.36992	0.000000	0.08366	0.002000	0.04165	0.3428:0.1635:0.4937:0.0	4.803	0.12674	846	0.36215	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	37	chr4	1000623	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.897;DP=715;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.42;ReadPosRankSum=0.059;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	18	0	1	0
chr4	1022236	1022236	G	A	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon2:c.G113A:p.R38Q,FGFRL1:NM_001004356:exon3:c.G113A:p.R38Q,FGFRL1:NM_001004358:exon3:c.G113A:p.R38Q,FGFRL1:NM_001370296:exon3:c.G113A:p.R38Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	1949144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	.	.	0.00159744	0.0016	0	0.0002	0	0	0	0	0.0146	0.0006145	95	154602	rs557619683	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0051	0.0050	3.159e-05	5.167e-05	0	0	0	0.0002	5.56e-06	0.0004	0.0056	0.0002	0.0002	8.999e-05	0.0002	0.0052	0.0001	9.7e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	0.298	0.42199	T	0.242	0.57587	T	0.218	0.30213	B	0.085	0.29395	B	0.000000	0.84330	D	0.000000	0.999874	0.50225	D	0.42	0.12520	N	1.58	0.66652	T	-1.12	0.33197	N	0.422	0.49146	-1.0370	0.18233	T	0.129	0.43767	T	10	0.009086192	0.00205	T	.	.	.	0.061	0.17616	0.426	0.47185	0.447589709634	0.44379	0.6461726590818195	0.64552	0.267667145957	0.29308	0.825996637344	0.85948	D	0.084233	0.37232	T	-0.390027	0.02689	T	-0.331518	0.41299	T	0.05757604730524	0.06781	T	0.846215	0.54490	T	0.07340355	0.16401	0.06913558	0.14528	0.07340355	0.16400	0.06913558	0.14527	-7.538	0.57877	D	.	.	0.208	0.51900	B	.;.;.;.;.;.	.;.;.;.;.;.	3.659671	0.51986	23.2	0.99153455195100981	0.53875	0.93844	0.59355	D	AEFBI	0.505427	0.53658	D	-0.626743846686541	0.18144	0.9396412	-0.516178421489664	0.21714	1.175956	0.974821929300308	0.29578	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.62	2.76	0.31527	6.017000	0.70457	7.006000	0.57214	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0889:0.1547:0.7564:0.0	8.455	0.32052	878	0.29785	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1401.33	35	chr4	1022236	.	G	A	1401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=731;ExcessHet=0;FS=4.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.021;SOR=0.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1027	18	0	1	0
chr4	1024446	1024446	A	C	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon5:c.A854C:p.E285A,FGFRL1:NM_001004356:exon6:c.A854C:p.E285A,FGFRL1:NM_001004358:exon6:c.A854C:p.E285A,FGFRL1:NM_001370296:exon6:c.A854C:p.E285A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.808589164879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	-0.82	0.74053	T	-5.08	0.82896	D	0.744	0.74371	0.055	0.83331	D	0.509	0.81517	D	10	0.89457244	0.88807	D	0.808589	0.98506	D	0.727	0.90413	0.548	0.66296	0.652154727628	0.64925	0.626736358750651	0.62606	0.640929620085	0.57711	0.786134600639	0.79854	T	0.373603	0.73757	T	0.187681	0.72749	D	0.0318149	0.72395	D	0.985660436322113	0.76591	D	0.978602	0.92442	D	0.5345253	0.69088	0.478873	0.69814	0.5345253	0.69089	0.478873	0.69815	-9.721	0.72224	D	.	.	0.411	0.60177	A	.;.;.;.	.;.;.;.	4.893895	0.80374	27.3	0.99565779166491164	0.72075	0.98964	0.89257	D	AEFBI	0.705796	0.66107	D	0.63909799794399	0.75665	6.346314	0.626925852307722	0.76900	6.577351	0.999999999703569	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	7.158000	0.77057	8.871000	0.78331	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	1.0:0.0:0.0:0.0	14.636	0.68291	878	0.29785	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2510.33	41	chr4	1024446	.	A	C	2510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=821;ExcessHet=0;FS=1.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.347;SOR=0.861	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr4	1056973	1056973	G	T	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001366919:exon11:c.C679A:p.P227T	Recombination rate QTL 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	31.62	.	chr4	1056973	.	G	T	31.62	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.967;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=-0.1329;MLEAC=2;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,35	11	0	1	7
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	461.33	34	chr4	1081428	.	G	C	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=628;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=1.56;SOR=1.44	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,937	18	0	1	0
chr4	1380214	1380214	G	A	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon11:c.G1736A:p.R579H,UVSSA:NM_001317935:exon11:c.G1736A:p.R579H,UVSSA:NM_020894:exon11:c.G1736A:p.R579H	UV-sensitive syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.461865422825	.	.	3.556e-05	0	0	0.0001	0	4.842e-05	0	0	2.59e-05	4	154602	rs762685790	1.028e-05	1.163e-05	8.18e-06	1.24e-05	8.967e-05	6.17e-06	4.89e-06	2.376e-05	1.258e-05	8.967e-05	4.478e-05	0	0	0	0	8.099e-06	0	1.16e-05	4.599e-05	4.597e-05	3.853e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.099386	0.999991	0.58761	D	2.98	0.85499	M	0.12	0.78645	T	-4.78	0.81985	D	0.868	0.86511	0.552	0.91264	D	0.683	0.89036	D	10	0.9649173	0.95956	D	0.461865	0.94527	D	0.722	0.90191	0.818	0.93195	0.620813946232	0.61774	0.5771072443821271	0.57639	0.122210248799	0.13767	0.688712954521	0.65521	T	0.50874	0.82589	D	0.0222467	0.54685	T	0.0308479	0.72333	D	0.953314960002899	0.63997	D	0.949405	0.80515	D	0.76000965	0.81453	0.5953921	0.76511	0.76000965	0.81455	0.5953921	0.76512	-11.282	0.81182	D	0.8628695844321808	0.92585	0.820	0.78250	P	.;.;.;.;.	.;.;.;.;.	5.781295	0.93525	33	0.99946730993656618	0.99913	0.96300	0.68467	D	AEFBI	0.747716	0.68968	D	0.725764836437161	0.81323	7.494904	0.631101123573498	0.77209	6.635702	0.999201348446486	0.38742	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.01	4.16	0.48138	6.984000	0.75959	11.632000	0.93711	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.1405:0.8595:0.0	15.346	0.74050	822	0.40702	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	752.33	39	chr4	1380214	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.709;SOR=0.66	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1229	18	0	1	0
chr4	1406109	1406109	C	A	exonic	NKX1-1	.	nonsynonymous SNV	NKX1-1:NM_001290079:exon1:c.G334T:p.A112S	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	0.00199681	0.0018	0.0139	0	0	.	0.0037	0	0.0010	0.0003687	57	154602	rs141872547	0.0039	0.0032	0.0040	0.0038	0.0064	0.0037	0.0037	0.0055	0.0054	0.0018	0.0014	0.0013	0	0.0006	0.0064	0.0057	0.0035	0.0002	0.0032	0.0033	0.0032	0.0033	0.0058	0.0030	0.0029	0.0053	0.0051	0.0009	0	0.0025	0.0003	0	0.0006	0.0068	0.0058	0.0071	0.0002	0.0	0.91255	D	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.34	0.87989	D	0.08	0.06026	N	0.148	0.15046	-0.0312	0.81605	T	0.407	0.75692	T	5	0.0048724115	0.00104	T	.	.	.	0.136	0.36778	.	.	0.665122462611	0.66230	0.20310305198347928	0.20227	1.00729817364	0.74630	.	.	.	0.014147	0.12098	T	-0.343621	0.05142	T	-0.263613	0.48462	T	0.0600492014267297	0.07177	T	0.375462	0.08961	T	0.21282241	0.43645	0.41939667	0.65935	0.21282241	0.43645	0.41939667	0.65935	-6.085	0.46985	T	.	.	0.091	0.12985	B	.	.	1.719234	0.21888	15.39	0.96390636734718016	0.29651	0.27750	0.23364	N	AEFDBHCI	0.025106	0.01662	N	-0.479994027849614	0.22738	1.216186	-0.62902872728102	0.18748	1.002939	0.999881672522875	0.44867	0.59774	0.34471	0	0.547309	0.14657	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.38	2.38	0.28415	-0.304000	0.08238	0.491000	0.18902	0.437000	0.21030	0.008000	0.17931	0.999000	0.35428	0.007000	0.07825	0.0:1.0:0.0:0.0	10.131	0.41850	871	0.31377	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1238.33	33	chr4	1406109	.	C	A	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=708;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-1.118;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	18	0	1	0
chr4	1717586	1717586	C	T	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.G770A:p.G257D	.	411	1107	3	1	0	5	0.00225327	.	.	.	4081744	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0262646137395	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374359483	2.647e-05	2.531e-05	2.118e-05	3.192e-05	0.0002	1.953e-05	1.705e-05	2.269e-05	2.002e-05	0	0	0	0	0	0.0002	3.153e-05	1.726e-05	1.264e-05	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.122	0.27663	T	0.259	0.23097	T	0.801	0.45051	P	0.438	0.45631	B	0.000052	0.53742	D	0.120057	0.898469	0.81001	D	1.355	0.33814	L	0.97	0.42502	T	-0.07	0.08033	N	0.402	0.44283	-0.9345	0.43470	T	0.108	0.39123	T	10	0.31940585	0.49328	T	0.026265	0.49189	D	0.107	0.30369	.	.	0.398581233421	0.39469	0.5760042671478229	0.57529	0.299086279298	0.32277	0.795669794083	0.81305	T	0.006	0.05539	T	-0.217586	0.18324	T	-0.35268	0.38899	T	0.19137637405995	0.19925	T	0.882712	0.60367	D	0.16556111	0.36836	0.20773889	0.45046	0.16556111	0.36836	0.20773889	0.45045	-7.637	0.58569	D	.	.	0.267	0.50129	B	.;.	.;.	4.632293	0.73669	26.0	0.93443945152622077	0.23222	0.95919	0.66721	D	AEFDBCI	0.770020	0.70510	D	0.221580393251775	0.52247	3.399962	0.258963564400487	0.53161	3.486421	0.999999999834917	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.69	3.82	0.43153	5.493000	0.66618	5.754000	0.49644	0.594000	0.32500	0.991000	0.37257	0.922000	0.28345	0.960000	0.51673	0.1541:0.8459:0.0:0.0	13.858	0.63040	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1065.33	39	chr4	1717586	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=778;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.862;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1328:.	18	0	1	0
chr4	1717655	1717655	C	T	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.G701A:p.G234E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0656470328297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942386527	1.303e-05	1.231e-05	1.283e-05	1.324e-05	2.98e-05	8.14e-06	6.72e-06	9.68e-06	7.91e-06	0	2.98e-05	0	0	0	0	1.589e-05	0	0	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.113	0.28772	T	0.608	0.07741	T	0.801	0.45051	P	0.265	0.39681	B	0.000216	0.47681	D	0.139249	0.997396	0.81001	D	2.19	0.61577	M	1.0	0.41392	T	-0.51	0.15986	N	0.49	0.52386	-0.8626	0.51075	T	0.131	0.44208	T	10	0.44251996	0.58191	T	0.065647	0.69640	D	0.131	0.35738	0.458	0.52427	0.36076525451	0.35686	0.41346507788222314	0.41262	0.584892128571	0.54152	0.493111312389	0.37870	T	0.009162	0.08356	T	-0.203778	0.20262	T	-0.351418	0.39042	T	0.139637992582753	0.16244	T	0.886311	0.61284	D	0.18573663	0.39950	0.18292524	0.41250	0.18573663	0.39950	0.18292524	0.41249	-4.359	0.28996	T	.	.	0.211	0.43989	B	.;.	.;.	3.319078	0.45644	22.2	0.98540508342114608	0.42707	0.97167	0.73084	D	AEFDBCI	0.712356	0.66551	D	0.0699040881498186	0.45062	2.769195	0.00959743339890889	0.40159	2.39229	0.999999999354753	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.69	4.69	0.58546	4.564000	0.60546	7.469000	0.59132	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:1.0:0.0:0.0	17.621	0.87984	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	711.33	39	chr4	1717655	.	C	T	711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.086;DP=749;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.107;SOR=0.906	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1328	18	0	1	0
chr4	1737293	1737293	G	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon9:c.G1801A:p.V601M	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.012362974314	.	.	8.287e-06	0	8.67e-05	0	0	0	0	0	6.5e-06	1	154602	rs761464132	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	2.236e-05	0	2.519e-05	0	0.0009	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.114	0.36765	T	0.999	0.77913	D	0.915	0.65091	D	0.834767	0.09079	N	0.894418	1	0.08975	N	1.625	0.41611	L	2.84	0.10674	T	-1.21	0.30762	N	0.351	0.39254	-1.0411	0.16981	T	0.055	0.23186	T	10	0.21548584	0.38102	T	0.012363	0.30863	T	0.074	0.21613	0.174	0.08014	0.270889551736	0.26708	0.12797299764545608	0.12722	0.33828758877	0.35804	0.538798868656	0.44276	T	0.104869	0.41482	T	-0.26886	0.11884	T	-0.527121	0.19576	T	0.125419646501541	0.14953	T	0.771423	0.40183	T	0.04516151	0.07345	0.040789634	0.04489	0.04516151	0.07345	0.040789634	0.04489	-4.816	0.34777	T	.	.	0.225	0.45690	B	.	.	2.469455	0.31825	18.86	0.99333801204231231	0.59895	0.44909	0.27422	N	AEFDBCI	0.038984	0.05599	N	-0.409006094837244	0.25153	1.363301	-0.582944636572218	0.19938	1.071969	0.999911772277787	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.54	0.354	0.15300	0.404000	0.20722	3.061000	0.36160	0.671000	0.69459	0.514000	0.27064	0.999000	0.35428	0.025000	0.12405	0.0:0.334:0.3517:0.3143	6.943	0.23684	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1735.33	43	chr4	1737293	.	G	A	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.522;SOR=0.72	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1316	18	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.02632	822.33	49	chr4	1744729	.	C	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.941;DP=857;ExcessHet=0;FS=4.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.147;SOR=0.589	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr4	2305394	2305394	G	T	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C856A:p.P286T,ZFYVE28:NM_001172659:exon8:c.C736A:p.P246T,ZFYVE28:NM_020972:exon8:c.C946A:p.P316T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0240773278015	.	.	5.877e-05	9.927e-05	8.669e-05	0.0001	0.0002	4.613e-05	0	0	4.53e-05	7	154602	rs61742112	6.437e-05	6.43e-05	7.766e-05	5.093e-05	0.0005	5.367e-05	4.981e-05	0.0001	7.544e-05	2.987e-05	8.947e-05	0	7.557e-05	0.0002	0.0005	5.756e-05	8.283e-05	2.319e-05	5.907e-05	5.905e-05	3.853e-05	8.052e-05	4.809e-05	3.074e-05	2.208e-05	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0.0004	0.0034	2.939e-05	0	0	0.203	0.20230	T	0.68	0.10857	T	0.002	0.16609	B	0.002	0.15521	B	0.014715	0.28452	N	0.391533	1	0.08975	N	1.085	0.27262	L	0.36	0.57880	T	-2.85	0.61284	D	0.121	0.17966	-1.0776	0.07821	T	0.075	0.30148	T	10	0.042159736	0.02938	T	0.024077	0.47063	T	0.066	0.19193	0.23	0.15705	0.0934897674506	0.08844	0.27072341695279895	0.26985	0.0478970202408	0.05224	0.345473825932	0.17253	T	0.010317	0.09328	T	-0.375541	0.03323	T	-0.551514	0.17180	T	0.0239086999429879	0.01134	T	0.626037	0.24205	T	0.047846746	0.08244	0.061873987	0.12017	0.047846746	0.08244	0.061873987	0.12016	-5.196	0.38901	T	.	.	0.067	0.02458	B	.;.;.	.;.;.	0.160314	0.05509	1.973	0.57831202914997393	0.05856	0.24589	0.22440	N	AEFDBI	0.136142	0.25671	N	-1.30282139137573	0.03643	0.1630985	-1.28634374863009	0.04614	0.2180656	0.988797442653119	0.31630	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.85	1.12	0.19700	0.166000	0.16400	0.271000	0.16657	-1.669000	0.00802	0.118000	0.23139	0.040000	0.21562	0.000000	0.00833	0.1448:0.3585:0.3743:0.1224	3.656	0.07757	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	7927.7	143	chr4	2305394	.	G	T	7927.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=1210;ExcessHet=0.7564;FS=1.103;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.73;SOR=0.803	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr4	2341540	2341540	C	T	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172658:exon2:c.G115A:p.V39I,ZFYVE28:NM_001172656:exon3:c.G256A:p.V86I,ZFYVE28:NM_001172657:exon3:c.G256A:p.V86I,ZFYVE28:NM_001172659:exon3:c.G46A:p.V16I,ZFYVE28:NM_001172660:exon3:c.G46A:p.V16I,ZFYVE28:NM_020972:exon3:c.G256A:p.V86I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0369551594526	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006471990	3.421e-06	4.104e-06	2.723e-06	4.125e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	9.411e-05	0	0	0	0	0.039	0.44358	D	0.034	0.55759	D	0.977	0.90584	D	0.248	0.83170	B	0.000007	0.62929	D	0.063976	0.999999	0.81001	D	0.755	0.19153	N	1.53	0.30401	T	-0.83	0.26200	N	0.403	0.47580	-0.8956	0.48427	T	0.169	0.50923	T	10	0.34167823	0.51213	T	0.036955	0.57318	D	0.088	0.25558	0.191	0.10171	0.293707238958	0.28979	0.6185196093884633	0.61784	0.699085228208	0.61004	0.646298408508	0.59459	T	0.040903	0.25682	T	-0.135341	0.30636	T	-0.432184	0.29688	T	0.952526330947876	0.63812	D	0.916108	0.78180	D	0.17117006	0.37735	0.15316796	0.36005	0.17117006	0.37735	0.15316796	0.36004	-12.434	0.87137	D	.	.	0.138	0.36752	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.038269	0.59763	24.1	0.99854563431707766	0.93368	0.97284	0.73788	D	AEFDBI	0.789965	0.71900	D	0.469986495429711	0.65345	4.81088	0.471763770399328	0.66124	4.911646	0.999986190651109	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	7.019000	0.76152	7.325000	0.58180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.223000	0.22544	0.0:1.0:0.0:0.0	16.797	0.85467	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1457.33	37	chr4	2341540	.	C	T	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=984;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.835;SOR=1.031	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	0	1	0
chr4	2445301	2445301	C	G	exonic	CFAP99	.	nonsynonymous SNV	CFAP99:NM_001193282:exon6:c.C635G:p.P212R	.	420	1097	5	0	0	5	0.00227376	.	.	.	2347269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0006	0	0	0	0	0.0011	0	0	4.53e-05	7	154602	rs576917731	0.0003	0.0003	0.0003	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	4.051e-05	0.0005	0	0	0	0.0018	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.216e-05	0	0	0	0	0	0	0.0004	0.0005	0.0004	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.023274839	0.00604	T	.	.	.	.	.	.	.	0.393471546983	0.38961	0.2127385484002148	0.21189	.	.	.	.	.	.	.	.	-0.321183	0.06801	T	-0.32687	0.41818	T	.	.	.	0.59824	0.22282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29642	B	.;.	.;.	1.218566	0.16123	12.33	0.66083365332383248	0.07956	0.28584	0.23594	N	AEFBI	.	.	.	.	.	.	.	.	.	0.936409246805415	0.27253	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.514609	0.39603	4.52	3.63	0.40741	1.056000	0.30089	3.172000	0.36616	0.589000	0.31548	0.001000	0.13787	0.327000	0.24354	0.048000	0.15020	0.0:0.8844:0.0:0.1156	9.358	0.37342	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1249.33	33	chr4	2445301	.	C	G	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=708;ExcessHet=0;FS=1.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.458;SOR=0.986	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1210	18	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	217.39	102	chr4	2662992	.	G	C	217.39	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-3.219;DP=1811;ExcessHet=0.119;FS=199.457;InbreedingCoeff=-0.1563;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.45;SOR=10.546	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:96,0:96:0:.:.:0,0,1582:.	11	0	2	6
chr4	2931463	2931463	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001363679:exon9:c.C917T:p.P306L	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00941737385725	0.0002	.	0.0009	0	0.0013	0	0	0.0008	0	0.0015	0.0002652	41	154602	rs376864708	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0008	6.195e-05	0.0002	0	0	0	0.0016	0.0003	0.0005	0.0010	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.9e-05	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0002	0.244	0.17468	T	0.255	0.23365	T	0.012	0.16265	B	0.027	0.21085	B	.	.	.	.	0.616782	0.81001	D	.	.	.	0.69	0.51714	T	2.06	0.00379	N	0.348	0.38950	-1.0158	0.25078	T	0.069	0.28180	T	8	0.025450379	0.00739	T	0.009417	0.24693	T	0.030	0.07022	.	.	0.378322506985	0.37446	.	.	.	.	.	.	.	0.104746	0.41459	T	-0.332062	0.05957	T	-0.300201	0.44703	T	0.0234668268359589	0.01079	T	0.509649	0.16214	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22098	B	.	.	1.060873	0.14425	11.00	0.94479724319400959	0.24934	0.67338	0.33397	D	AEFDBCI	0.090740	0.18385	N	-0.093152188924336	0.37692	2.196594	-0.168484838900721	0.32704	1.863232	0.999995433595738	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	3.09	0.34677	0.550000	0.23052	2.065000	0.30414	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.1783:0.0:0.4843:0.3374	4.180	0.09830	609	0.67094	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	845.33	36	chr4	2931463	.	G	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=829;ExcessHet=0;FS=8.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.678;SOR=1.43	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1377	18	0	1	0
chr4	2932709	2932709	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C422T:p.A141V,MFSD10:NM_001146069:exon5:c.C422T:p.A141V,MFSD10:NM_001363679:exon5:c.C422T:p.A141V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.022539371501	.	.	2.644e-05	9.968e-05	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs754994254	1.035e-05	1.368e-05	1.235e-05	8.326e-06	0.0003	6.21e-06	4.93e-06	6.133e-05	2.536e-05	0	2.315e-05	0	5.043e-05	0	0.0003	1.807e-06	3.342e-05	7.122e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.104	0.29959	T	0.165	0.30926	T	0.437	0.35811	B	0.163	0.35019	B	0.013306	0.28882	N	0.403070	0.999947	0.19238	N	1.39	0.34934	L	-1.45	0.80899	T	-1.5	0.39887	N	0.445	0.51940	-0.9384	0.42869	T	0.209	0.56826	T	10	0.11511102	0.21678	T	0.022539	0.45438	T	0.130	0.35528	.	.	0.376216005999	0.37235	0.43753453259029607	0.43670	0.0265829955864	0.02714	0.328746020794	0.14745	T	0.164284	0.54966	T	-0.168803	0.25415	T	-0.294978	0.45252	T	0.0368688552349653	0.03133	T	0.940506	0.77585	D	0.08562965	0.19871	0.06408031	0.12789	0.08562965	0.19870	0.06408031	0.12788	-10.407	0.76311	D	.	.	0.118	0.23986	B	.;.;.;.;.	.;.;.;.;.	2.286312	0.29238	18.06	0.99523778476790425	0.69407	0.15106	0.18747	N	AEFDBCIJ	0.314989	0.41969	N	-0.687225187867526	0.16385	0.8343098	-0.657210151278053	0.18034	0.9616542	0.999966334829895	0.48965	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.73	1.87	0.24559	1.670000	0.37118	2.542000	0.33220	-0.117000	0.14459	0.405000	0.26210	0.070000	0.22201	0.883000	0.42306	0.1021:0.2977:0.3421:0.2581	2.158	0.03585	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1493.33	41	chr4	2932709	.	G	A	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=818;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.656;SOR=0.54	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr4	2933632	2933632	A	C	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon2:c.T203G:p.V68G,MFSD10:NM_001146069:exon3:c.T203G:p.V68G,MFSD10:NM_001363679:exon3:c.T203G:p.V68G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.241454251617	.	.	5.121e-05	0	0	0	0.0007	3.114e-05	0	0	6.5e-06	1	154602	rs752022266	2.464e-05	3.694e-05	2.588e-05	2.339e-05	5.042e-05	1.804e-05	1.601e-05	8.36e-06	3.13e-06	0	0	0	5.042e-05	0.0006	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.97	0.85306	M	0.69	0.76561	T	-5.74	0.89759	D	0.657	0.71055	0.310	0.87711	D	0.610	0.86183	D	10	0.8410578	0.83262	D	0.241454	0.88718	D	0.649	0.86736	0.698	0.83499	0.685150128463	0.68245	0.85848537955436	0.85811	0.0979166354652	0.11043	0.594095468521	0.52072	T	0.436246	0.81430	T	0.364349	0.87584	D	0.285585	0.87424	D	0.861658573150635	0.51202	D	0.583942	0.21221	T	0.93061435	0.94299	0.8057216	0.88629	0.93061435	0.94299	0.8057216	0.88629	-13.433	0.91068	D	.	.	0.426	0.60968	A	.;.;.;.;.	.;.;.;.;.	4.812846	0.78317	26.9	0.99419618963506473	0.63694	0.93370	0.58035	D	AEFDBCI	0.940207	0.94183	D	0.555740798461114	0.70432	5.500713	0.449123243219805	0.64659	4.726392	0.999999999804877	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.26897	0.05253	2	0.56214	0.19341	0	.	.	4.4	4.4	0.52402	8.830000	0.91679	7.721000	0.67307	0.632000	0.51917	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	1.0:0.0:0.0:0.0	13.642	0.61727	614	0.66605	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018145	0.005102	0.063859	0.029240	0.000000	0.034483	0.030488	0.022727	0.02632	1242.33	39	chr4	2933632	.	A	C	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=876;ExcessHet=0;FS=1.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.55;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.05263	1710.83	40	chr4	2941692	.	G	A	1710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=801;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.486;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	17	0	2	0
chr4	3022431	3022431	A	C	exonic	GRK4	.	nonsynonymous SNV	GRK4:NM_001350173:exon8:c.A368C:p.N123T,GRK4:NM_001004056:exon9:c.A854C:p.N285T,GRK4:NM_005307:exon9:c.A854C:p.N285T,GRK4:NM_001004057:exon10:c.A950C:p.N317T,GRK4:NM_182982:exon10:c.A950C:p.N317T	.	419	1090	13	0	0	13	0.00592795	.	.	.	2385522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.912	0.107602439707	0.0005	0.000399361	0.0010	0.0002	0.0022	0	0	0.0011	0.0022	0.0010	0.0009702	150	154602	rs139428941	0.0009	0.0009	0.0008	0.0009	0.0194	0.0008	0.0008	0.0165	0.0154	0.0009	0.0018	0.0097	0	3.744e-05	0.0194	0.0005	0.0016	0.0011	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0008	0.0006	0.0002	0	0.0012	0.0118	0	9.414e-05	0.0102	0.0006	0.0019	0.0012	0.0	0.91255	D	0.026	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.825	0.95591	H	-2.95	0.91903	D	-5.94	0.89093	D	0.968	0.99260	1.071	0.98625	D	0.916	0.97233	D	10	0.13934132	0.26494	T	0.107602	0.78376	D	0.912	0.97662	.	.	0.980505126295	0.98029	0.8717288043742755	0.87138	0.386592268345	0.39947	0.687632679939	0.65365	T	0.555156	0.85008	D	0.0097665	0.52993	T	0.222238	0.84287	D	0.19505141667276	0.20138	T	0.991521	0.97327	D	0.98826945	0.99670	0.9707945	0.99499	0.98826945	0.99670	0.9707945	0.99499	-16.229	0.98157	D	.	.	0.980	0.91323	P	.;.;.;.	.;.;.;.	5.279924	0.88650	29.7	0.99657140226339036	0.77694	0.99483	0.96582	D	AEFDBI	0.869137	0.78954	D	0.977606637809397	0.95014	13.23348	0.88832381809931	0.95042	13.26109	0.999999999232096	0.74766	0.549168	0.22868	0	0.624146	0.53433	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.56	5.56	0.83678	8.678000	0.90939	10.603000	0.83475	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.890	0.70237	628	0.65206	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.010101	0.024457	0.032164	0.000000	0.043103	0.003049	0.000000	0.02632	921.33	41	chr4	3022431	.	A	C	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.73;DP=757;ExcessHet=0;FS=5.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-1.439;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	18	0	1	0
chr4	3074876	3074876	-	CAGCAGCAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.51_52insCAGCAGCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQQQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4024341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs763773724	0.0036	0.0033	0.0033	0.0038	0.0058	0.0035	0.0034	0.0049	0.0046	0.0026	0.0055	0.0048	0.0024	0.0082	0.0058	0.0032	0.0055	0.0042	0.0101	0.0099	0.0107	0.0095	0.0119	0.0097	0.0095	0.0112	0.0109	0.0083	0	0.0118	0.0082	0.0032	0.0079	0.0119	0.0119	0.0116	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	16696.7	39	chr4	3074876	.	C	CCAGCAGCAGCAGCAGCAGCAG	16696.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.165;DP=1522;ExcessHet=0.0068;FS=0.803;InbreedingCoeff=0.5128;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=33.36;ReadPosRankSum=0.022;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:35:99:.:.:1435,1444,1479:.	18	0	1	0
chr4	3074909	3074910	GC	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.84_85del:p.Q29Afs*53	Huntington disease, Autosomal dominant	3	1504	11	3	1	18	0.00561983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs767553699	0.0013	0.0019	0.0012	0.0015	0.0037	0.0013	0.0013	0.0026	0.0025	0.0006	0.0015	0.0065	0	0.0008	0.0037	0.0011	0.0028	0.0029	0.0037	0.0039	0.0041	0.0034	0.0051	0.0035	0.0034	0.0046	0.0045	0.0015	0	0.0043	0.0109	0.0012	0.0011	0.0035	0.0051	0.0069	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	616.29	40	chr4	3074908	.	AGC	A	616.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=954;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=2.03;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	18	0	1	0
chr4	3074912	3074927	GCAGCAGCAGCAGCAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.87_102del:p.Q29Hfs*67	Huntington disease, Autosomal dominant	3	1503	11	3	2	19	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs760691860	0.0013	0.0019	0.0012	0.0014	0.0034	0.0013	0.0012	0.0026	0.0025	0.0005	0.0015	0.0064	0	0.0008	0.0034	0.0011	0.0025	0.0030	0.0036	0.0039	0.0040	0.0032	0.0050	0.0034	0.0033	0.0046	0.0044	0.0015	0	0.0041	0.0109	0.0010	0.0009	0.0035	0.0050	0.0064	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	610.29	40	chr4	3074911	.	AGCAGCAGCAGCAGCAG	A	610.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=947;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=1.84;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	18	0	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3013.79	40	chr4	3074923	.	AGC	*	3013.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=945;ExcessHet=1.3;FS=0.552;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=3.34;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	18	0	1	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2705.75	40	chr4	3074926	.	AGCAG	*	2705.75	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.745;DP=933;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=3.4;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	14	0	5	0
chr4	3074934	3074936	CAA	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.109_111del:p.Q38del	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157773340	4.17e-05	5.424e-05	4.192e-05	4.149e-05	9.699e-05	3.28e-05	2.943e-05	3.298e-05	2.944e-05	3.908e-05	6.178e-05	4.204e-05	9.699e-05	0	0	4.327e-05	1.827e-05	2.708e-05	3.996e-05	4.558e-05	4.681e-05	3.277e-05	7.001e-05	1.568e-05	9.49e-06	2.333e-05	1.4e-05	3.092e-05	0	0	0	0	0	0	7.001e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	382.31	40	chr4	3074933	.	GCAA	G	382.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.333;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-1.006;SOR=0.616	GT:AD:DP:GQ:PL	0/0:43,0:43:88:0,88,1360	18	0	1	0
chr4	3074935	3074935	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2035.1	40	chr4	3074935	.	A	*	2035.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=877;ExcessHet=0.0506;FS=4.673;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=1.59;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:60:.:.:0,60,1339:.	18	0	1	0
chr4	3130311	3130311	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon14:c.A1874G:p.Q625R	Huntington disease, Autosomal dominant	1	1492	26	3	0	32	0.0106101	.	.	.	1582210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00307469766437	0.0060	0.00279553	0.0059	0.0009	0.0029	0	0.0006	0.0078	0.0080	0.0090	0.0056597	875	154602	rs151106561	0.0059	0.0059	0.0058	0.0060	0.0080	0.0058	0.0058	0.0071	0.0069	0.0010	0.0035	0.0182	2.569e-05	0.0010	0.0080	0.0061	0.0074	0.0076	0.0039	0.0039	0.0042	0.0036	0.0057	0.0036	0.0035	0.0053	0.0051	0.0010	0	0.0048	0.0118	0.0002	0.0010	0.0068	0.0057	0.0061	0.0044	0.327	0.13262	T	0.026	0.55759	D	0.002	0.09854	B	0.003	0.08700	B	0.000050	0.53742	D	0.167936	0.571816	0.31172	N	1.1	0.28011	L	3.5	0.05014	T	-1.11	0.28703	N	0.159	0.16586	-1.1266	0.01952	T	0.015	0.06282	T	10	0.0044893026	0.00092	T	0.003075	0.06636	T	0.079	0.23065	.	.	0.302481332339	0.29867	0.14526518922379095	0.14449	0.176767326265	0.19889	0.343192756176	0.16915	T	0.156359	0.49850	T	-0.569926	0.00222	T	-0.584897	0.14111	T	0.0155558761070371	0.00353	T	0.761424	0.52631	T	0.13567653	0.31481	0.16072819	0.37421	0.14039071	0.32392	0.16072819	0.37421	-3.741	0.19925	T	0.09116276268044496	0.05754	0.093	0.16582	B	.;.	.;.	1.891908	0.24027	16.24	0.99241762718833137	0.56565	0.91378	0.53413	D	AEFDBI	0.228202	0.35191	N	-0.0599764683322441	0.39158	2.304722	0.0926252157069326	0.44176	2.704542	0.999986357448469	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.617000	0.53923	2.734000	0.34411	0.756000	0.94297	0.998000	0.41325	0.929000	0.28499	0.997000	0.79791	1.0:0.0:0.0:0.0	14.974	0.70906	456	0.79013	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.005435	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	688.33	38	chr4	3130311	.	A	G	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=733;ExcessHet=0;FS=6.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-1.006;SOR=1.503	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1422	18	0	1	0
chr4	3148202	3148202	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon26:c.A3493G:p.I1165V	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1361049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00248378478519	.	.	6.776e-05	0	0.0009	0	0	0	0	0.0002	1.94e-05	3	154602	rs377592444	7.771e-06	7.525e-06	2.795e-06	1.286e-05	0.0001	4.17e-06	3.05e-06	5.307e-05	3.464e-05	3.093e-05	0.0001	0	0	0	0	3.679e-06	0	1.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.193094	0.16794	N	0.629414	1	0.08975	N	-0.49	0.02651	N	3.67	0.04188	T	0.19	0.04947	N	0.012	0.00125	-0.9186	0.45743	T	0.005	0.01578	T	10	0.018193334	0.00394	T	0.002484	0.04925	T	0.049	0.13647	0.206	0.12216	0.491561328709	0.48789	0.07499880260855342	0.07435	0.314917620909	0.33772	0.286527991295	0.08419	T	0.094459	0.39420	T	-0.404632	0.02158	T	-0.559323	0.16440	T	0.0111471282347681	0.00163	T	0.784022	0.42156	T	0.01987721	0.00529	0.03151601	0.01751	0.01987721	0.00529	0.03151601	0.01751	-2.094	0.03558	T	0.12949301840350613	0.13529	0.051	0.00168	B	.	.	-0.153720	0.03334	0.585	0.25140628988623964	0.01145	0.04528	0.10159	N	AEFDBI	0.049876	0.08662	N	-1.30060746053853	0.03669	0.1643073	-1.26956320639259	0.04848	0.2296623	0.206181325226382	0.18184	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	-3.35	0.04620	0.533000	0.22791	-0.055000	0.12496	0.756000	0.94297	0.015000	0.19116	0.000000	0.08366	0.939000	0.47918	0.2955:0.1288:0.5758:0.0	9.334	0.37202	444	0.79803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1231.33	33	chr4	3148202	.	A	G	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-1.145;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	18	0	1	0
chr4	3317781	3317781	G	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_002926:exon2:c.G1611T:p.W537C,RGS12:NM_198229:exon2:c.G1611T:p.W537C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.091642633199	0.0040	0.000998403	0.0026	0.0008	0.0003	0	0.0008	0.0044	0.0011	0.0004	0.0027361	423	154602	rs150230031	0.0050	0.0050	0.0051	0.0048	0.0061	0.0049	0.0048	0.0059	0.0059	0.0007	0.0006	0.0028	0	0.0016	0.0003	0.0061	0.0047	0.0003	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0007	0	0.0012	0.0017	0	0.0005	0	0.0054	0.0019	0.0004	0.002	0.72154	D	0.02	0.59732	D	0.999	0.77913	D	0.885	0.68276	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.29	0.35775	T	-3.19	0.64593	D	0.914	0.91621	-0.8650	0.50900	T	0.142	0.46275	T	10	0.029279321	0.01055	T	0.091643	0.75744	D	0.262	0.57482	0.679	0.81691	0.350307294319	0.34646	0.6994801406948032	0.69889	0.911187721119	0.71071	0.65148550272	0.60196	T	0.283693	0.65646	T	-0.114724	0.33988	T	0.0703921	0.74937	D	0.0130448355480089	0.00227	T	0.933407	0.75038	D	0.5211982	0.68328	0.51377946	0.71905	0.5211982	0.68329	0.51377946	0.71905	-2.004	0.03196	T	.	.	0.961	0.88195	P	.;.;.	.;.;.	4.060062	0.60248	24.2	0.9906377291193742	0.51551	0.98845	0.87614	D	AEFBI	0.766977	0.70299	D	0.584939458282401	0.72234	5.773765	0.540975175306468	0.70773	5.554522	0.999999999739933	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.25	4.25	0.49658	7.062000	0.76404	8.299000	0.76929	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	15.818	0.78396	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1007.33	35	chr4	3317781	.	G	T	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.364;DP=916;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-2.235;SOR=1.002	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,100,1800	18	0	1	0
chr4	3444331	3444331	C	T	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon6:c.C619T:p.R207C,HGFAC:NM_001528:exon6:c.C619T:p.R207C	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	.	0.00519169	0.0068	0.0003	0	0	0.0008	0.0002	0.0061	0.0296	0.0028007	433	154602	rs377317114	0.0015	0.0015	0.0008	0.0022	0.0238	0.0014	0.0014	0.0229	0.0225	9.02e-05	0	0	2.585e-05	0.0005	0.0017	3.171e-05	0.0015	0.0238	0.0008	0.0008	0.0004	0.0012	0.0235	0.0007	0.0006	0.0199	0.0186	2.406e-05	0	0	0	0.0002	0.0004	0	4.412e-05	0	0.0235	0.161	0.23631	T	0.181	0.29540	T	0.125	0.90584	B	0.058	0.70163	B	0.000361	0.45194	D	0.148873	0.99974	0.20548	N	2.19	0.61577	M	0.82	0.48142	T	-0.12	0.08809	N	0.533	0.56145	-0.8645	0.50937	T	0.230	0.59521	T	10	0.0058221817	0.00130	T	.	.	.	0.234	0.53644	0.735	0.86806	0.439870908748	0.43606	0.5105221306996212	0.50974	0.332123583338	0.35272	0.459483772516	0.33239	T	0.027262	0.20004	T	-0.351053	0.04661	T	-0.258115	0.49013	T	0.0630882125442497	0.07646	T	0.890911	0.62511	D	0.59571356	0.72460	0.40398812	0.64839	0.59571356	0.72461	0.40398812	0.64839	-10.542	0.77088	D	.	.	0.347	0.59733	A	.;.	.;.	3.377443	0.46700	22.3	0.99872932274009241	0.95076	0.06174	0.12157	N	AEFDBCI	0.464142	0.51276	N	-0.20299312494339	0.33010	1.868106	-0.274996458975164	0.28925	1.61653	0.999988590835788	0.51787	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.74	3.74	0.42108	2.406000	0.44210	7.266000	0.57975	0.530000	0.24713	0.596000	0.27714	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	13.070	0.58468	867	0.32089	Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I;Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.011364	0.02632	1028.33	43	chr4	3444331	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=844;ExcessHet=0;FS=4.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=0.025;SOR=0.934	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,944	18	0	1	0
chr4	3476432	3476432	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon4:c.C422T:p.A141V,DOK7:NM_001301071:exon4:c.C422T:p.A141V,DOK7:NM_173660:exon4:c.C422T:p.A141V	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0848533464481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.26519	T	0.067	0.44302	T	0.999	0.77913	D	0.926	0.66095	D	0.000005	0.62929	D	0.061091	0.999951	0.52396	D	1.09	0.27330	L	-0.89	0.74793	T	-2.63	0.56466	D	0.297	0.33578	-0.1687	0.78460	T	0.501	0.81144	D	10	0.42566177	0.57156	T	0.084853	0.74411	D	0.440	0.74377	0.46	0.52753	0.850656283713	0.84922	0.49774828438387003	0.49695	0.0199147124724	0.01953	0.5747205019	0.49344	T	0.530653	0.83752	D	0.00186606	0.51911	T	-0.235096	0.51275	T	0.987035810947418	0.77612	D	0.928507	0.73679	D	0.32272214	0.54869	0.2743403	0.53361	0.32272214	0.54869	0.2743403	0.53360	-8.406	0.67400	D	0.09896139408341964	0.07134	0.142	0.31304	B	.;.	.;.	4.182339	0.62975	24.5	0.99877113193135514	0.95410	0.76925	0.37769	D	AEFBCI	0.510951	0.53979	D	0.406171165612182	0.61761	4.381694	0.372026462954681	0.59845	4.166026	0.999999999999876	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.42	4.42	0.52775	1.650000	0.36908	7.322000	0.58169	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.012	0.80206	895	0.25842	.;IRS-type PTB domain|IRS-type PTB domain|Dok-7, PTB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1110.33	37	chr4	3476432	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.285;DP=812;ExcessHet=0;FS=4.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.282;SOR=0.683	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr4	3493340	3493340	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.C424T:p.R142W,DOK7:NM_001363811:exon5:c.C922T:p.R308W,DOK7:NM_001301071:exon7:c.C1354T:p.R452W,DOK7:NM_173660:exon7:c.C1354T:p.R452W	Myasthenic syndrome, congenital, 10, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	YES	632188	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.233511665094	0.0002	.	0.0001	0.0002	0.0008	0	0	7.684e-05	0	0	7.76e-05	12	154602	rs375116985	8.364e-05	9.03e-05	8.786e-05	7.937e-05	0.0002	7.143e-05	6.688e-05	0.0001	8.743e-05	0.0002	0.0001	0	0	0	0.0002	8.597e-05	8.383e-05	8.266e-05	8.541e-05	8.536e-05	0.0001	5.38e-05	0.0001	4.957e-05	3.962e-05	6.805e-05	5.088e-05	7.237e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.022	0.57587	D	0.002	0.09854	B	0.001	0.04355	B	0.370568	0.13533	N	0.674688	1	0.08975	N	1.79	0.46772	L	-0.13	0.64818	T	-3.6	0.69357	D	0.142	0.14196	-0.6431	0.63013	T	0.352	0.71565	T	10	0.17367715	0.32208	T	0.233512	0.88369	D	0.133	0.36157	.	.	0.773320394583	0.77123	0.12855388742118734	0.12780	0.00905380675831	0.00821	0.591368019581	0.51687	T	0.393984	0.75325	T	-0.279053	0.10767	T	-0.342424	0.40069	T	0.063846671388467	0.07759	T	0.842116	0.51841	T	0.21684991	0.44154	0.2512694	0.50735	0.21684991	0.44154	0.2512694	0.50734	-4.921	0.35970	T	0.2585330040984541	0.34931	0.092	0.20430	B	.;.;.	.;.;.	2.996005	0.40013	21.1	0.99844581372689911	0.92489	0.31135	0.24261	N	AEFDBCI	0.303245	0.41127	N	-0.139856458214225	0.35667	2.051648	-0.172561654767833	0.32550	1.852982	0.999990208842702	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.29	3.37	0.37692	0.690000	0.25132	1.860000	0.29316	0.596000	0.33519	0.001000	0.13787	0.004000	0.18990	0.020000	0.11549	0.0:0.8326:0.1674:0.0	12.636	0.56043	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1283.33	59	chr4	3493340	.	C	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=839;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.188;SOR=0.928	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	3493445	3493445	G	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.G529C:p.A177P,DOK7:NM_001363811:exon5:c.G1027C:p.A343P,DOK7:NM_001301071:exon7:c.G1459C:p.A487P,DOK7:NM_173660:exon7:c.G1459C:p.A487P	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1025838	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_10	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0009690,MedGen:C1850792,OMIM:254300,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.173205288624	.	.	6.639e-05	0	0.0007	0	0	0	0	0	3.88e-05	6	154602	rs751342277	1.099e-05	1.094e-05	8.195e-06	1.381e-05	0.0004	6.5e-06	5.26e-06	0.0002	0.0002	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.035	0.52389	D	0.99	0.63424	D	0.676	0.53321	P	0.000440	0.44522	D	0.149388	0.98465	0.40175	D	2.19	0.61577	M	-0.41	0.69413	T	-2.72	0.57920	D	0.568	0.59138	-0.4539	0.70271	T	0.480	0.80119	T	10	0.2835588	0.45936	T	0.173205	0.84996	D	0.329	0.65126	0.26	0.20315	0.799870223113	0.79800	0.24083441947777318	0.23997	0.0174109686577	0.01692	0.711790919304	0.68852	T	0.200739	0.55841	T	-0.138329	0.30157	T	-0.12032	0.61776	T	0.383600733607121	0.28321	T	0.714629	0.32694	T	0.54212236	0.69515	0.6482813	0.79428	0.54212236	0.69516	0.6482813	0.79429	-3.454	0.15794	T	0.2362494818236721	0.31991	0.090	0.29367	B	.;.;.	.;.;.	3.185398	0.43259	21.7	0.99589387475076718	0.73513	0.72064	0.35288	D	AEFBCI	0.507233	0.53762	D	0.126190284249033	0.47687	2.990951	-0.0618886936192328	0.36980	2.15918	0.999989664642011	0.51787	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.77	2.92	0.32998	3.554000	0.53466	3.514000	0.38858	0.672000	0.70159	0.978000	0.35038	0.999000	0.35428	0.241000	0.23027	0.0958:0.0:0.9042:0.0	10.512	0.44053	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	952.33	34	chr4	3493445	.	G	C	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.295;DP=854;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.2;SOR=0.75	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	3518190	3518190	T	G	exonic	LRPAP1	.	nonsynonymous SNV	LRPAP1:NM_002337:exon5:c.A595C:p.I199L	Myopia 23, autosomal recessive, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0075204883773	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35108689	1.372e-06	1.368e-06	0	2.761e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.05826	T	0.074	0.42976	T	0.023	0.18885	B	0.286	0.40541	B	0.040837	0.24015	N	0.439086	1	0.08975	N	2.22	0.62911	M	0.96	0.42888	T	-0.49	0.15578	N	0.152	0.15609	-0.9393	0.42727	T	0.095	0.35924	T	10	0.078802824	0.12602	T	0.00752	0.19952	T	0.111	0.31313	0.409	0.44395	0.171388866994	0.16791	0.21486315736824846	0.21402	0.0586537782296	0.06507	0.326622992754	0.14424	T	0.232067	0.59854	T	-0.292633	0.09373	T	-0.658124	0.08394	T	0.0710252643031828	0.08793	T	0.871313	0.57716	D	0.027503068	0.01952	0.028158115	0.01026	0.027503068	0.01952	0.028158115	0.01026	-2.102	0.03593	T	.	.	0.135	0.29255	B	.;.	.;.	0.765366	0.11352	7.969	0.87253817125565303	0.17096	0.44206	0.27267	N	AEFBCI	0.184851	0.31218	N	-0.868168704496054	0.11605	0.5609741	-0.942439700148794	0.11099	0.5633703	0.00346553174951932	0.10129	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.99	-0.361	0.11939	1.181000	0.31626	-0.845000	0.07201	0.665000	0.62972	0.135000	0.23427	0.000000	0.08366	0.235000	0.22869	0.1853:0.2853:0.0:0.5294	2.948	0.05495	900	0.24599	Alpha-2-macroglobulin RAP, C-terminal|Alpha-2-macroglobulin RAP, domain 2;Alpha-2-macroglobulin RAP, C-terminal|Alpha-2-macroglobulin RAP, domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1291.33	33	chr4	3518190	.	T	G	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=760;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.764;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr4	4274759	4274759	T	C	exonic	LYAR	.	nonsynonymous SNV	LYAR:NM_001145725:exon7:c.A440G:p.N147S,LYAR:NM_017816:exon7:c.A440G:p.N147S	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00202592799949	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs374749432	5.542e-06	6.156e-06	2.755e-06	8.361e-06	0.0004	2.38e-06	1.72e-06	6.19e-05	2.557e-05	0	0	0	0	0	0.0004	3.613e-06	1.679e-05	1.222e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.881	0.03214	T	.	.	.	.	.	.	0.178578	0.03165	N	1.469460	1	0.08975	N	.	.	.	1.57	0.29342	T	-0.09	0.08340	N	0.008	0.00068	-1.0288	0.20843	T	0.040	0.17106	T	10	0.03801143	0.02192	T	0.002026	0.03668	T	0.009	0.00846	0.093	0.01151	0.0846915920261	0.08053	0.09667588435448814	0.09599	0.0455527235742	0.04945	0.213899493217	0.00988	T	.	.	.	-0.490696	0.00644	T	-0.830137	0.01259	T	0.00829098585402879	0.00100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00405	B	.;.	.;.	0.151214	0.05432	1.906	0.19429939123042647	0.00655	0.00401	0.02002	N	AEFBI	0.018713	0.00589	N	-1.51072284233344	0.01779	0.0779315	-1.52601426131607	0.02146	0.09823521	0.00798574097650565	0.11586	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	-2.75	0.05564	0.024000	0.13447	-0.505000	0.08779	-0.875000	0.02511	0.018000	0.19461	0.000000	0.08366	0.117000	0.19042	0.0:0.2135:0.1891:0.5974	7.494	0.26646	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	972.33	41	chr4	4274759	.	T	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=751;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.473;SOR=1.17	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr4	5498989	5498989	A	C	exonic	STK32B	.	nonsynonymous SNV	STK32B:NM_001345969:exon11:c.A1061C:p.D354A,STK32B:NM_018401:exon12:c.A1151C:p.D384A,STK32B:NM_001306082:exon13:c.A1010C:p.D337A	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00793364057204	.	0.000798722	0.0005	0	0	0	0	0	0	0.0036	0.0004075	63	154602	rs200454551	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0038	0.0036	0	2.237e-05	0	0	0	0.0003	8.994e-07	0.0004	0.0041	0.0002	0.0002	7.708e-05	0.0003	0.0050	0.0001	9.695e-05	0.0034	0.0029	0	0	0	0	0	0	0	1.47e-05	0	0.0050	0.224	0.26629	T	0.619	0.08106	T	0.001	0.07471	B	0.001	0.04355	B	0.603113	0.10939	U	0.747962	0.999996	0.08975	N	1.265	0.31966	L	-0.26	0.68329	T	-0.18	0.09796	N	0.114	0.18239	-0.9731	0.36540	T	0.177	0.52272	T	10	0.005048543	0.00109	T	0.007934	0.21033	T	0.139	0.37390	0.143	0.04650	0.790630991089	0.78869	0.47354260660288605	0.47273	0.0218929029425	0.02186	0.359760642052	0.19350	T	0.005367	0.06227	T	-0.414196	0.01865	T	-0.368021	0.37119	T	0.0337303043199586	0.02593	T	0.617538	0.23656	T	0.068954125	0.15067	0.032086622	0.01891	0.068954125	0.15067	0.032086622	0.01891	-3.329	0.14113	T	.	.	0.070	0.05360	B	.;.;.	.;.;.	1.714572	0.21829	15.37	0.89238613390287569	0.18627	0.81343	0.40766	D	AEFDBI	0.179996	0.30729	N	-0.503880788685382	0.21955	1.168881	-0.415951029010558	0.24529	1.343693	0.998669908737483	0.37413	0.732398	0.92422	0	0.588015	0.36545	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	4.94	4.94	0.64645	4.469000	0.59902	5.764000	0.49701	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.002000	0.04165	1.0:0.0:0.0:0.0	10.988	0.46749	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	34	chr4	5498989	.	A	C	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=739;ExcessHet=0;FS=7.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.826;SOR=1.063	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	18	0	1	0
chr4	5576374	5576374	G	C	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon18:c.C2898G:p.S966R,EVC2:NM_147127:exon18:c.C3138G:p.S1046R	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	3	1507	9	3	0	15	0.00495213	.	.	YES	293721	Ellis-van_Creveld_syndrome|not_specified|not_provided|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.184	.	0.0096	0.00758786	0.0038	0.0286	0.0029	0	0	0.0018	0.0011	0.0006	0.0034346	531	154602	rs73074138	0.0017	0.0017	0.0017	0.0016	0.0246	0.0016	0.0016	0.0232	0.0226	0.0246	0.0053	0.0054	0	5.621e-05	0.0225	0.0008	0.0037	0.0005	0.0080	0.0080	0.0080	0.0080	0.0234	0.0076	0.0075	0.0222	0.0217	0.0234	0	0.0091	0.0040	0	0	0.0306	0.0010	0.0066	0.0004	0.028	0.46129	D	0.011	0.64786	D	0.868	0.47740	P	0.383	0.43945	B	0.019057	0.27344	N	0.380247	1	0.08975	N	2.56	0.74772	M	-0.93	0.75215	T	-1.33	0.34992	N	0.366	0.40765	-0.9114	0.46682	T	0.108	0.39246	T	10	0.0066734254	0.00151	T	.	.	.	0.184	0.45763	0.254	0.19378	0.724018906263	0.72158	0.1543506842950964	0.15356	0.131878474572	0.14862	0.358229696751	0.19127	T	0.053301	0.29406	T	-0.456421	0.01034	T	-0.408121	0.32442	T	0.0475434294205966	0.05062	T	0.736726	0.35329	T	0.12640536	0.29608	0.12154893	0.29326	0.13297808	0.30946	0.096674144	0.22980	-2.975	0.09914	T	.	.	0.196	0.44397	B	.;.	.;.	1.826318	0.23208	15.93	0.99730011272474239	0.82690	0.06278	0.12271	N	AEFDBI	0.095994	0.19386	N	-0.557501546390611	0.20250	1.066071	-0.643842782117504	0.18372	0.9811565	6.56922854957636E-4	0.07551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.38	-0.219	0.12488	-0.426000	0.07076	-0.449000	0.09111	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.941000	0.48210	0.2348:0.1461:0.6191:0.0	6.138	0.19461	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.021652	0.045455	0.035326	0.023392	0.000000	0.034483	0.006098	0.000000	0.02632	799.33	34	chr4	5576374	.	G	C	799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.883;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr4	5628715	5628715	A	G	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon12:c.T1490C:p.M497T,EVC2:NM_147127:exon12:c.T1730C:p.M577T	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	1	1506	12	3	0	18	0.00594059	.	.	.	295120	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.656	.	0.0057	0.00599042	0.0023	0.0152	0.0022	0	0	0.0012	0.0011	0.0004	0.0021798	337	154602	rs113869406	0.0013	0.0013	0.0013	0.0013	0.0226	0.0013	0.0013	0.0194	0.0182	0.0164	0.0037	0.0047	0	5.626e-05	0.0226	0.0007	0.0030	0.0003	0.0053	0.0053	0.0052	0.0054	0.0155	0.0050	0.0049	0.0145	0.0141	0.0155	0	0.0055	0.0040	0	0	0.0240	0.0007	0.0063	0.0008	0.002	0.72154	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.000116	0.50451	D	0.142673	0.984555	0.40161	D	2.505	0.72935	M	-1.46	0.80983	T	-3.37	0.68532	D	0.858	0.85449	0.086	0.83911	D	0.454	0.78714	T	10	0.010639936	0.00236	T	.	.	.	0.656	0.87085	.	.	0.840034301016	0.83851	0.3783347696063244	0.37748	0.152517565218	0.17208	0.683719336987	0.64803	T	0.746757	0.93028	D	-0.0670031	0.41805	T	0.143952	0.79801	D	0.0237359276258657	0.01112	T	0.618038	0.24270	T	0.5912612	0.72219	0.68935335	0.81724	0.58076334	0.71651	0.70680547	0.82714	-3.999	0.23789	T	.	.	0.189	0.43448	B	.;.	.;.	3.972208	0.58338	24.0	0.9913075972715637	0.53249	0.94014	0.59854	D	AEFBI	0.557058	0.56684	D	0.610738995802271	0.73852	6.034449	0.576127230319168	0.73233	5.936959	0.999974668323365	0.50053	0.562547	0.31514	0	0.588066	0.40923	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.949000	0.63298	5.764000	0.49701	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.000	0.63940	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021652	0.050505	0.029891	0.032164	0.000000	0.034483	0.006098	0.000000	0.02632	2610.33	36	chr4	5628715	.	A	G	2610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.465;DP=861;ExcessHet=0;FS=2.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.763;SOR=0.947	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1512	18	0	1	0
chr4	5640522	5640522	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G1222A:p.G408S,EVC2:NM_147127:exon10:c.G1462A:p.G488S	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	4	1512	5	1	0	7	0.00230947	.	.	YES	265941	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|EVC2-related_disorder|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00795651746499	0.0016	0.00139776	0.0020	0.0007	0.0016	0	0.0006	0.0029	0.0055	0.0013	0.0019534	302	154602	rs145277501	0.0028	0.0028	0.0028	0.0028	0.0033	0.0027	0.0027	0.0032	0.0031	0.0003	0.0023	0.0020	0.0001	0.0009	0.0021	0.0033	0.0026	0.0011	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0018	0.0030	0.0027	0.0005	0	0.0037	0.0014	0.0002	0.0008	0.0068	0.0030	0.0019	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003776	0.34511	N	0.254820	1	0.08975	N	-2.3	0.00097	N	-0.95	0.75438	T	1.72	0.00961	N	0.082	0.06720	-0.9852	0.33784	T	0.075	0.30210	T	10	0.00306651	0.00051	T	0.007957	0.21110	T	0.101	0.28911	.	.	0.458917189328	0.45515	0.041656732012887596	0.04110	0.0202767068331	0.01990	0.460519611835	0.33382	T	0.101759	0.40883	T	-0.540997	0.00330	T	-0.552932	0.17046	T	0.0026800264057817	0.00028	T	0.294271	0.05429	T	0.029580375	0.02476	0.0580257	0.10653	0.030638702	0.02760	0.06479058	0.13036	-3.188	0.13227	T	.	.	0.054	0.00297	B	.;.	.;.	1.455194	0.18768	13.91	0.3130098391141154	0.01757	0.00049	0.00384	N	AEFDGBI	0.027724	0.02318	N	-1.27132772250513	0.04025	0.1809046	-1.12782673027727	0.07172	0.3478884	0.999987188644489	0.51787	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.82	3.82	0.43153	1.585000	0.36210	1.634000	0.27755	-0.162000	0.11565	0.035000	0.20724	0.033000	0.21346	0.610000	0.31640	0.0:0.1985:0.0:0.8015	6.521	0.21474	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	2418.33	45	chr4	5640522	.	C	T	2418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.603;DP=1262;ExcessHet=0;FS=2.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.751;SOR=0.875	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr4	5801966	5801966	C	T	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon16:c.C2321T:p.A774V,EVC:NM_153717:exon16:c.C2321T:p.A774V	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2116804	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0136015650185	.	.	3.317e-05	9.775e-05	0	0	0	4.518e-05	0	0	2.59e-05	4	154602	rs767144263	4.859e-05	4.857e-05	4.902e-05	4.814e-05	5.799e-05	3.927e-05	3.606e-05	4.438e-05	4.028e-05	2.988e-05	2.237e-05	0	0	0	0	5.576e-05	3.314e-05	5.799e-05	2.628e-05	2.627e-05	5.138e-05	0	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.008	0.58626	D	0.029	0.54541	D	0.003	0.11197	B	0.005	0.11217	B	0.009359	0.30401	N	0.306691	1	0.08975	N	2.565	0.75005	M	0.24	0.59583	T	-2.58	0.55662	D	0.266	0.30118	-0.9059	0.47343	T	0.153	0.48239	T	10	0.20072776	0.36130	T	0.013602	0.33126	T	0.056	0.15993	0.253	0.19223	0.557129077062	0.55373	0.20628153067692098	0.20545	.	.	0.301299452782	0.10595	T	0.400396	0.75798	T	-0.288348	0.09803	T	-0.469822	0.25534	T	0.355865806341171	0.27248	T	0.720928	0.33404	T	0.0699885	0.15379	0.10659333	0.25648	0.0699885	0.15379	0.10659333	0.25647	-3.866	0.21794	T	0.7064917870547098	0.78616	0.120	0.24633	B	.	.	3.151586	0.42666	21.6	0.98563485498798764	0.43012	0.45072	0.27457	N	AEFDBI	0.065662	0.12820	N	-0.537968035790677	0.20862	1.102986	-0.557016751560471	0.20619	1.111761	0.579104028873806	0.21556	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.82	1.97	0.25278	2.118000	0.41572	1.589000	0.27519	0.599000	0.40250	0.962000	0.33725	0.886000	0.27767	0.059000	0.15899	0.1622:0.6555:0.0:0.1822	5.321	0.15186	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	34	chr4	5801966	.	C	T	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=921;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.07;SOR=0.464	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr4	5990061	5990061	T	G	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.A1448C:p.E483A,C4orf50:NM_001364689:exon6:c.A1985C:p.E662A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910865705	5.02e-06	5.472e-06	6.396e-06	3.509e-06	4.052e-06	1.81e-06	1.19e-06	9.5e-07	6.4e-07	0	0	0	0	3.774e-05	0	4.052e-06	2.017e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09142634	0.16014	T	.	.	.	.	.	.	.	.	.	0.0129749585030533	0.01255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412859	0.10744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38924	B	.	.	-0.662695	0.01410	0.083	0.78770085837858606	0.12445	0.05379	0.11242	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	4.99968734435668E-4	0.07150	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.062806	0.01542	0	0.169074	0.28792	3.19	-3.77	0.04062	-1.866000	0.01739	0.308000	0.17052	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.0:0.6461:0.3539	10.726	0.45266	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	57.96	.	chr4	5990061	.	T	G	57.96	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.328;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.097;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.328;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,112	17	0	1	1
chr4	5990219	5990219	C	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.G1290T:p.E430D,C4orf50:NM_001364689:exon6:c.G1827T:p.E609D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066743076	0.09198	T	.	.	.	.	.	.	.	.	.	0.0075647184224189356	0.00722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305369	0.05850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31253	B	.	.	-0.662200	0.01411	0.083	0.51804336685629382	0.04630	0.00789	0.03228	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00586650566264912	0.11064	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0559266	0.13110	2.74	-5.31	0.02519	-1.493000	0.02403	-0.752000	0.07573	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1642:0.2509:0.1539:0.431	0.897	0.01185	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	31.54	.	chr4	5990219	.	C	A	31.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=-0.1219;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	0	1	5
chr4	6011901	6011901	C	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364689:exon2:c.G355A:p.A119T,C4orf50:NM_001364690:exon2:c.G355A:p.A119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09870681	0.17865	T	.	.	.	.	.	.	.	.	.	0.005534262017010919	0.00523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346465	0.07620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.16010	B	.	.	0.600319	0.09690	6.458	0.68049005443866795	0.08539	0.04564	0.10207	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.0231145588073845	0.13483	0.055982	0.00716	0	0.063554	0.01753	0	0.072005	0.02045	0	0.062806	0.01542	0	0.193681	0.30133	4.29	-1.55	0.08105	-0.581000	0.05913	-0.434000	0.09203	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.2549:0.2778:0.2209:0.2464	0.190	0.00123	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.3	.	chr4	6011901	.	C	T	35.3	.	AC=2;AF=0.083;AN=24;DP=40;ExcessHet=0;FS=0;InbreedingCoeff=0.3785;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.65;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,116	11	1	0	7
chr4	6018187	6018187	G	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364689:exon1:c.C245A:p.A82E,C4orf50:NM_001364690:exon1:c.C245A:p.A82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13657555	0.25985	T	.	.	.	.	.	.	.	.	.	0.005320728356622861	0.00503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358964	0.08219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.44514	B	.	.	1.735898	0.22091	15.48	0.54212530244991231	0.05093	0.05982	0.11943	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.36986016302999	0.19859	0.080785	0.02172	0	0.096583	0.02683	0	0.083675	0.02720	0	0.062806	0.01542	0	0.123474	0.25019	4.69	1.98	0.25351	0.431000	0.21163	1.549000	0.27280	-1.475000	0.01066	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.309:0.0:0.691:0.0	6.374	0.20699	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	36.81	1	chr4	6018187	.	G	T	36.81	.	AC=2;AF=0.083;AN=24;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=0.2141;MLEAC=2;MLEAF=0.083;MQ=60;QD=18.41;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	1	0	7
chr4	6112788	6112788	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001099433:exon2:c.G63A:p.M21I,JAKMIP1:NM_001306133:exon2:c.G63A:p.M21I,JAKMIP1:NM_001306134:exon2:c.G63A:p.M21I,JAKMIP1:NM_144720:exon2:c.G63A:p.M21I	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00779733033995	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0014	0.0001617	25	154602	rs771507170	8.62e-05	8.687e-05	2.995e-05	0.0001	0.0013	7.354e-05	6.903e-05	0.0011	0.0011	0	0	0	0	0	0.0003	6.295e-06	4.968e-05	0.0013	6.564e-05	6.561e-05	1.284e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.026	0.46910	D	0.015	0.61642	D	0.001	0.11197	B	0.001	0.10090	B	0.000751	0.42006	D	0.160941	0.879297	0.28077	N	0	0.06538	N	1.58	0.29085	T	-0.69	0.19720	N	0.239	0.28732	-1.0533	0.13493	T	0.037	0.15943	T	10	0.015848577	0.00333	T	0.007797	0.20694	T	0.039	0.10176	0.17	0.07536	0.292942362817	0.28906	0.12401586335035553	0.12327	0.730299924381	0.62702	0.513253033161	0.40678	T	0.055062	0.29901	T	-0.487104	0.00674	T	-0.518019	0.20495	T	0.0641444451767835	0.07803	T	0.967503	0.88224	D	0.14706887	0.33638	0.16117856	0.37504	0.20515357	0.42648	0.15562008	0.36470	-3.508	0.16543	T	0.097980507310446	0.06955	0.145	0.43935	B	.;.;.;.;.	.;.;.;.;.	2.924542	0.38838	20.8	0.9912410665730812	0.53063	0.61249	0.31430	D	AEFDBI	0.174034	0.30114	N	-0.33471367790272	0.27837	1.530558	-0.154643630471496	0.33230	1.898689	0.991355568499298	0.32460	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.637000	0.24348	2.517000	0.33102	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.3481:0.6518:0.0:0.0	9.264	0.36792	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1650.33	46	chr4	6112788	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=834;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.703;SOR=0.602	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1258	18	0	1	0
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V,WFS1:NM_006005:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	141622	Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Wolfram_syndrome_1|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|Wolfram-like_syndrome|Diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1815.33	165	chr4	6301953	.	A	G	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.576;DP=2015;ExcessHet=0;FS=3.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.783;SOR=0.551	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	18	0	1	0
chr4	6302180	6302180	-	GAC	exonic	WFS1	.	nonframeshift insertion	WFS1:NM_001145853:exon8:c.2385_2386insGAC:p.D797_V798insD,WFS1:NM_006005:exon8:c.2385_2386insGAC:p.D797_V798insD	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1484	35	2	1	40	0.0129697	.	.	.	54621	WFS1-related_disorder|not_specified|not_provided	MONDO:MONDO:0700293,MedGen:CN379391|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0019	0.0003	0.0006	0	0.0012	0.0013	0	0.0076	0.00073	19	26028	rs1414522372	0.0014	0.0014	0.0011	0.0017	0.0092	0.0014	0.0014	0.0087	0.0085	0.0001	0.0011	0.0012	0	0.0008	0.0061	0.0009	0.0017	0.0092	0.0012	0.0012	0.0010	0.0015	0.0079	0.0011	0.0010	0.0059	0.0052	0.0003	0	0.0025	0.0014	0.0002	0.0008	0.0136	0.0011	0.0019	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006552	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.011364	0.02632	2017.29	165	chr4	6302180	.	G	GGAC	2017.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=1878;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/1:72,54:126:99:2031,0,2817	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:100,38:138:99:509,0,2471	1	0	18	0
chr4	7041623	7041623	C	A	exonic	CCDC96	.	nonsynonymous SNV	CCDC96:NM_153376:exon1:c.G1316T:p.S439I	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0171293677559	0.0002	0.000199681	0.0003	9.61e-05	0.0007	0	0	0.0003	0.0022	0.0004	0.0002975	46	154602	rs201520565	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	2.987e-05	0.0005	3.826e-05	0	0.0001	0.0016	0.0003	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	4.809e-05	0.0164	0.0003	0	0	9.416e-05	0	0.0004	0.0005	0.0006	0.018	0.50676	D	0.012	0.63918	D	0.912	0.50421	P	0.421	0.45113	B	0.083961	0.20724	N	0.412228	0.97684	0.25349	N	0.695	0.17993	N	0.88	0.46028	T	-2.61	0.56144	D	0.105	0.08925	-1.0552	0.12987	T	0.074	0.29770	T	10	0.008828789	0.00200	T	0.017129	0.38702	T	0.071	0.20720	.	.	0.0806252709748	0.07271	0.08874174416155649	0.08807	.	.	0.535546064377	0.43817	T	0.250395	0.62048	T	-0.490643	0.00644	T	-0.569101	0.15532	T	0.0485748518309664	0.05246	T	0.677732	0.28664	T	0.15109497	0.34365	0.12852198	0.30919	0.15109497	0.34365	0.12852198	0.30918	-3.182	0.12262	T	.	.	0.454	0.62391	A	.	.	2.539792	0.32855	19.17	0.99338026827308801	0.60051	0.31775	0.24422	N	AEFDBI	0.240615	0.36237	N	-0.311750049497598	0.28701	1.58526	-0.35419222755367	0.26379	1.45671	0.999835809306252	0.43792	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.650387	0.60102	1	.	.	3.55	2.38	0.28415	1.369000	0.33832	1.881000	0.29453	-0.278000	0.06506	0.004000	0.16614	0.890000	0.27818	0.974000	0.55675	0.0:0.1234:0.3907:0.4859	4.830	0.12799	884	0.28482	Domain of unknown function DUF4201	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2423.33	34	chr4	7041623	.	C	A	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.271;DP=848;ExcessHet=0;FS=5.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.379;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	18	0	1	0
chr4	7061167	7061167	C	T	exonic	GRPEL1	.	nonsynonymous SNV	GRPEL1:NM_025196:exon4:c.G349A:p.V117I	.	431	1089	2	0	0	2	0.000917431	.	.	.	2822397	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.00215472065373	0.0028	0.00219649	0.0010	0.0077	0.0003	0.0013	0	0.0004	0	6.426e-05	0.0008797	136	154602	rs146608974	0.0005	0.0005	0.0005	0.0004	0.0093	0.0004	0.0004	0.0084	0.0081	0.0093	0.0005	0.0052	0.0008	0	0.0002	7.915e-05	0.0010	0.0002	0.0024	0.0024	0.0024	0.0023	0.0079	0.0022	0.0021	0.0072	0.0069	0.0079	0	0.0006	0.0026	0.0008	0	0	8.819e-05	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000002	0.62929	N	0.099846	0.845621	0.28569	N	-0.78	0.01655	N	.	.	.	0.4	0.03463	N	0.047	0.01911	-1.0507	0.14203	T	0.024	0.10419	T	9	0.011043102	0.00243	T	0.002155	0.04016	T	0.194	0.47447	.	.	0.123314135267	0.11883	0.18344846698503278	0.18263	0.183386769954	0.20629	0.313295125961	0.12405	T	0.008995	0.08221	T	-0.557441	0.00263	T	-0.567529	0.15677	T	0.000377325581395349	0.00003	T	0.714629	0.32694	T	0.02086908	0.00663	0.027620196	0.00929	0.02086908	0.00662	0.027620196	0.00928	-0.927	0.00922	T	.	.	0.078	0.06849	B	.	.	1.064295	0.14465	11.03	0.72926837353344776	0.10145	0.58623	0.30692	D	AEFGBCI	0.035441	0.04561	N	-0.771954297293717	0.14044	0.6964602	-0.570176307906574	0.20272	1.091452	0.999906993208208	0.45458	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.65	3.29	0.36801	3.137000	0.50257	0.668000	0.20568	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.2269:0.0:0.7731	8.392	0.31691	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1994.33	34	chr4	7061167	.	C	T	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=779;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.917;SOR=0.919	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1369	18	0	1	0
chr4	7193083	7193083	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C437G:p.T146R	.	418	1099	5	0	0	5	0.00226963	.	.	.	2360995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.484258923036	.	0.000199681	0.0003	0	0.0007	0	0	0.0001	0	0.0012	0.0001358	21	154602	rs558449809	0.0001	0.0001	9.46e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	3.354e-05	0.0003	0	0	0	0.0004	8.219e-05	0.0002	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.811e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0008	0.012	0.54683	D	0.017	0.60337	D	0.988	0.62325	D	0.781	0.57337	P	.	.	.	.	0.973567	0.39034	D	1.59	0.40313	L	1.95	0.22474	T	-1.53	0.37178	N	0.175	0.18784	-1.1283	0.01865	T	0.068	0.27845	T	9	0.06800559	0.09557	T	0.484259	0.94893	D	0.119	0.33137	.	.	0.680186721519	0.67746	0.37767319533967264	0.37682	0.432164153585	0.43397	0.918384432793	0.98198	D	0.008714	0.07985	T	-0.399525	0.02332	T	-0.432171	0.29690	T	0.496945381164551	0.32518	T	0.80032	0.44603	T	0.23133607	0.45903	0.377693	0.62863	0.23133607	0.45903	0.377693	0.62863	-14.21	0.93718	D	.	.	0.590	0.68470	P	.	.	4.134838	0.61910	24.4	0.98771779273222993	0.45986	0.74224	0.36307	D	AEFDBCI	0.299431	0.40849	N	0.292352461185745	0.55761	3.740162	0.259828042500006	0.53211	3.491134	0.999999995935469	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.88	3.88	0.43959	2.617000	0.46049	7.097000	0.57524	0.441000	0.21086	0.020000	0.19661	1.000000	0.68203	0.991000	0.66497	0.0:0.8908:0.0:0.1092	9.417	0.37693	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002538	0.000000	0.002725	0.000000	0.000000	0.000000	0.003125	0.007634	0.02632	1254.33	34	chr4	7193083	.	C	G	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=706;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.543;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	1	0
chr4	7434681	7434681	A	G	exonic	PSAPL1	.	nonsynonymous SNV	PSAPL1:NM_001085382:exon1:c.T199C:p.C67R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.0168270170781	8e-05	.	2.721e-05	0	0	0	0	3.246e-05	0	6.617e-05	2.59e-05	4	154602	rs368529906	4.108e-06	4.788e-06	5.449e-06	2.753e-06	4.653e-05	1.48e-06	9.7e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	8.997e-07	1.659e-05	4.653e-05	2.626e-05	2.625e-05	2.569e-05	2.684e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.855	0.82945	M	-12.46	0.99998	D	-11.16	0.99359	D	0.866	0.86297	0.653	0.92580	D	1.000	0.99985	D	9	0.9863058	0.98933	D	0.016827	0.38268	T	0.796	0.93306	.	.	0.901840116955	0.90086	0.9616510429231301	0.96151	0.257193398885	0.28292	0.495937764645	0.38261	T	0.623392	0.88229	D	0.464212	0.93107	D	0.444518	0.93445	D	0.999589622020721	0.98022	D	0.323768	0.06600	T	0.8286153	0.85806	0.84570354	0.91216	0.8286153	0.85808	0.84570354	0.91217	-11.293	0.81240	D	.	.	0.929	0.84920	P	.	.	3.276571	0.44877	22.0	0.99191248813702337	0.54994	0.46502	0.27774	N	AEFDBI	0.099877	0.20095	N	0.231516238267404	0.52731	3.445548	0.0360934949630002	0.41404	2.486934	0.999805513584084	0.43304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.04	3.04	0.34171	0.050000	0.14004	3.783000	0.39798	0.751000	0.87719	0.000000	0.06391	0.995000	0.32472	0.208000	0.22126	1.0:0.0:0.0:0.0	7.723	0.27908	994	0.00715	Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	37	chr4	7434681	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.191;DP=1187;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.212;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	18	0	1	0
chr4	7715209	7715209	C	T	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon17:c.C2150T:p.S717F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00969530680938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.028	0.55759	D	0.868	0.47740	P	0.23	0.38212	B	0.204987	0.16505	N	0.539238	1	0.08975	N	1.845	0.48678	L	2.47	0.14783	T	-2.47	0.54382	N	0.34	0.38848	-1.0240	0.22410	T	0.034	0.14464	T	10	0.29984456	0.47534	T	0.009695	0.25313	T	0.044	0.11924	0.273	0.22369	0.620522651735	0.61745	0.4942025735143953	0.49341	0.356417376244	0.37388	0.348609834909	0.17717	T	0.093011	0.39122	T	-0.243118	0.14954	T	-0.586998	0.13927	T	0.869669556617737	0.51959	D	0.772323	0.40326	T	0.11403268	0.26925	0.13902321	0.33183	0.11403268	0.26925	0.13902321	0.33182	-8.532	0.64641	D	.	.	0.090	0.12655	B	.;.	.;.	2.923592	0.38820	20.8	0.99030150226247915	0.50786	0.07286	0.13308	N	AEFDBI	0.063835	0.12359	N	-0.286913674179456	0.29652	1.646311	-0.402370733466119	0.24928	1.367853	0.956061821952585	0.28225	0.516011	0.20929	0	0.59043	0.45803	0	0.425852	0.06454	2	0.586402	0.36253	0	.	.	3.71	3.71	0.41733	0.597000	0.23759	2.026000	0.30231	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.313000	0.24807	0.0:0.8076:0.0:0.1924	7.584	0.27150	988	0.01987	Sortilin, C-terminal|VPS10;Sortilin, C-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1582.33	228	chr4	7715209	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.724;DP=2963;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.678;SOR=0.596	GT:AD:DP:GQ:PL	0/1:111,68:179:99:1596,0,2920	18	0	1	0
chr4	7809739	7809739	G	A	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon8:c.C929T:p.S310L,AFAP1:NM_001134647:exon9:c.C929T:p.S310L,AFAP1:NM_198595:exon9:c.C929T:p.S310L,AFAP1:NM_001371091:exon10:c.C929T:p.S310L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00482950969632	0.0002	0.000599042	0.0006	9.615e-05	0.0004	0	0	0.0006	0.0011	0.0013	0.0005045	78	154602	rs141660816	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0011	0.0008	0.0001	0.0004	0.0051	0	0	0.0019	0.0002	0.0007	0.0009	0.0003	0.0003	0.0002	0.0005	0.0008	0.0003	0.0002	0.0003	0.0002	7.236e-05	0	0.0004	0.0058	0	0	0.0034	0.0002	0.0014	0.0008	0.013	0.53900	D	0.047	0.58613	D	0.078	0.24389	B	0.021	0.19346	B	0.024207	0.26302	N	0.399291	1	0.08975	N	1.79	0.46772	L	2.46	0.15145	T	-2.38	0.52451	N	0.306	0.34981	-1.0373	0.18140	T	0.035	0.15247	T	10	0.008170545	0.00185	T	0.00483	0.12098	T	0.063	0.18251	.	.	0.21737058555	0.21362	0.27370359274996897	0.27283	0.0825246582377	0.09310	0.554070711136	0.46431	T	0.032407	0.22475	T	-0.471322	0.00834	T	-0.49535	0.22832	T	0.0516884270426793	0.05795	T	0.815518	0.64583	T	0.112464376	0.26568	0.12084816	0.29160	0.112464376	0.26568	0.12084816	0.29160	-9.057	0.68063	D	.	.	0.075	0.16275	B	.;.;.;.;.	.;.;.;.;.	2.935632	0.39014	20.9	0.99484952441595043	0.67124	0.90816	0.52314	D	AEFBI	0.566726	0.57259	D	-0.228287654752389	0.31978	1.798569	-0.186801509582916	0.32020	1.817683	0.99999984633172	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.15	4.28	0.50183	5.875000	0.69407	4.251000	0.42758	0.676000	0.76740	0.965000	0.33920	0.875000	0.27637	0.314000	0.24830	0.0762:0.1463:0.7775:0.0	9.321	0.37124	946	0.12043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1098.33	34	chr4	7809739	.	G	A	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.573;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	18	0	1	0
chr4	8227413	8227413	G	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1491T:p.R497S,SH3TC1:NM_018986:exon12:c.G1719T:p.R573S	.	408	1100	14	0	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	.	0.0014	0.00259585	0.0032	0	0.0017	0.0001	0.0033	0.0031	0.0026	0.0111	0.0030401	470	154602	rs141562329	0.0024	0.0025	0.0022	0.0027	0.0100	0.0024	0.0024	0.0094	0.0092	0.0002	0.0022	0.0001	7.659e-05	0.0033	0.0026	0.0021	0.0018	0.0100	0.0020	0.0020	0.0019	0.0022	0.0110	0.0018	0.0018	0.0086	0.0078	0.0001	0	0.0020	0	0.0010	0.0038	0	0.0025	0.0005	0.0110	0.002	0.72154	D	0.008	0.67890	D	0.917	0.50750	P	0.637	0.51992	P	0.010654	0.29839	N	0.373920	1	0.08975	N	2.36	0.67893	M	-1.31	0.79666	T	-3.18	0.64478	D	0.122	0.11340	-0.4606	0.70048	T	0.448	0.78342	T	10	0.008080214	0.00183	T	.	.	.	0.326	0.64826	0.641	0.77795	0.774564854132	0.77249	0.37368514507220196	0.37282	0.0584021036236	0.06474	0.614163815975	0.54904	T	0.059957	0.31257	T	-0.379381	0.03143	T	-0.309912	0.43669	T	0.0892190346718984	0.11124	T	0.746125	0.36682	T	0.25142437	0.48151	0.25987086	0.51742	0.25142437	0.48150	0.25987086	0.51741	-8.303	0.63115	D	.	.	0.431	0.61254	A	.	.	2.533157	0.32752	19.14	0.9948958265085367	0.67347	0.72923	0.35679	D	AEFDBCI	0.303188	0.41122	N	-0.00514594820015193	0.41622	2.492886	-0.0387525630370364	0.37980	2.231306	0.999970267004375	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.51	2.42	0.28720	0.832000	0.27143	0.858000	0.22201	-0.968000	0.01952	0.397000	0.26145	0.173000	0.23359	0.550000	0.30174	0.2842:0.0:0.7158:0.0	10.234	0.42445	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.018939	0.02632	555.33	34	chr4	8227413	.	G	T	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.079;DP=959;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.256;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,24:51:99:569,0,883	18	0	1	0
chr4	8228123	8228123	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2201T:p.T734M,SH3TC1:NM_018986:exon12:c.C2429T:p.T810M	.	418	1065	38	1	0	40	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0042	0.00239617	0.0041	0.0005	0.0042	0.0002	0.0002	0.0058	0.0130	0.0024	0.0039844	616	154602	rs141246804	0.0041	0.0041	0.0039	0.0043	0.0248	0.0040	0.0040	0.0215	0.0202	0.0014	0.0048	0.0127	7.562e-05	0.0006	0.0248	0.0042	0.0052	0.0028	0.0036	0.0036	0.0036	0.0035	0.0069	0.0033	0.0032	0.0058	0.0054	0.0008	0	0.0069	0.0118	0	0.0002	0.0170	0.0048	0.0099	0.0021	0.264	0.16358	T	0.252	0.23570	T	0.227	0.30477	B	0.024	0.20255	B	0.608865	0.05689	N	1.216660	1	0.08975	N	-0.205	0.04094	N	2.23	0.18083	T	-0.44	0.14588	N	0.12	0.11054	-0.9892	0.32803	T	0.144	0.46678	T	10	0.0043804646	0.00089	T	.	.	.	0.011	0.01250	.	.	0.159798565429	0.15598	0.13209991502445473	0.13134	0.028334657764	0.02908	0.393992006779	0.24230	T	0.001092	0.00611	T	-0.667018	0.00057	T	-0.72829	0.04405	T	0.00313622059938561	0.00033	T	0.565243	0.19970	T	0.036259346	0.04424	0.039471384	0.04046	0.036259346	0.04424	0.039471384	0.04046	-6.435	0.49782	T	.	.	0.066	0.02285	B	.	.	-0.201072	0.03086	0.484	0.60909728043607425	0.06578	0.03672	0.08936	N	AEFDBCI	0.056672	0.10495	N	-1.55978173974142	0.01478	0.06452043	-1.68219132308546	0.01218	0.05486252	0.999999899908379	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.735409	0.98432	0	.	.	4.14	-5.71	0.02218	-0.320000	0.08070	-11.442000	0.00605	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0895:0.2316:0.0967:0.5821	5.574	0.16498	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.028701	0.025253	0.042120	0.032164	0.000000	0.043103	0.006098	0.015152	0.02632	997.33	89	chr4	8228123	.	C	T	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.7;DP=1270;ExcessHet=0;FS=0.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.434;SOR=0.546	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr4	8228200	8228200	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G2278A:p.V760M,SH3TC1:NM_018986:exon12:c.G2506A:p.V836M	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0318912539601	0.0006	0.000199681	0.0006	0.0007	0.0004	0	0	0.0005	0	0.0018	0.0006145	95	154602	rs140746956	0.0009	0.0009	0.0009	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0008	0.0004	0	5.049e-05	0	0.0005	0.0009	0.0006	0.0019	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0006	0	6.535e-05	0	0	0	0	0.0008	0	0.0017	0.346	0.12469	T	0.191	0.28391	T	0.723	0.42412	P	0.187	0.36167	B	0.222576	0.03465	N	1.592370	1	0.08975	N	0.205	0.09354	N	-0.58	0.71425	T	-0.66	0.19085	N	0.061	0.03283	-0.8804	0.49730	T	0.151	0.47944	T	10	0.013240755	0.00282	T	0.031891	0.53858	D	0.137	0.36984	.	.	0.328486982098	0.32448	0.18838147186634122	0.18756	0.0316959262422	0.03287	0.49634540081	0.38319	T	0.002302	0.01700	T	-0.511855	0.00490	T	-0.532648	0.19023	T	0.0105545901806637	0.00147	T	0.747125	0.36767	T	0.050338585	0.09078	0.0361526	0.03006	0.050338585	0.09078	0.0361526	0.03006	-8.957	0.67420	D	.	.	0.131	0.28086	B	.	.	0.275511	0.06528	3.011	0.74674896918866374	0.10784	0.02441	0.06877	N	AEFDBCI	0.039259	0.05677	N	-1.12110596710774	0.06269	0.2881153	-1.34107236586164	0.03912	0.1834625	0.999999999414198	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.603688	0.36954	0	0.735409	0.98432	0	.	.	4.5	-9.0	0.00641	-0.030000	0.12257	-4.790000	0.01985	0.590000	0.31872	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.5027:0.32:0.0839:0.0933	4.855	0.12917	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	949.33	89	chr4	8228200	.	G	A	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=1257;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.106;SOR=0.844	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr4	8228326	8228326	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2404T:p.R802W,SH3TC1:NM_018986:exon12:c.C2632T:p.R878W	.	405	1069	45	3	0	51	0.0232983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0080	0.00379393	0.0085	0.0024	0.0107	0	0.0017	0.0110	0.0114	0.0079	0.008247	1275	154602	rs116515695	0.0099	0.0099	0.0099	0.0100	0.0162	0.0098	0.0097	0.0135	0.0125	0.0018	0.0120	0.0133	0.0002	0.0026	0.0162	0.0109	0.0094	0.0075	0.0083	0.0083	0.0085	0.0081	0.0155	0.0079	0.0077	0.0139	0.0132	0.0023	0.0022	0.0155	0.0156	0	0.0028	0.0102	0.0116	0.0104	0.0064	0.018	0.50676	D	0.062	0.45318	T	0.864	0.47514	P	0.263	0.39594	B	0.005741	0.32538	N	0.326308	1	0.08975	N	2.885	0.83555	M	-0.26	0.67187	T	-5.73	0.87611	D	0.505	0.53708	-0.8657	0.50849	T	0.112	0.40006	T	10	0.009637147	0.00217	T	.	.	.	0.278	0.59497	.	.	0.484913652648	0.48122	0.46698923295145245	0.46617	0.218053028388	0.24340	0.481912225485	0.36321	T	0.240283	0.60858	T	-0.428911	0.01505	T	-0.375252	0.36277	T	0.1097481939629	0.13398	T	0.847115	0.52772	T	0.059006594	0.11940	0.089378275	0.20897	0.059006594	0.11940	0.089378275	0.20896	-8.491	0.64370	D	.	.	0.108	0.20430	B	.	.	1.805067	0.22940	15.82	0.93402194401286565	0.23161	0.03711	0.08995	N	AEFDBHCI	0.344076	0.43968	N	-1.09239725191294	0.06782	0.3132109	-1.29245337101502	0.04532	0.2139726	0.999999999899822	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.603688	0.36954	0	0.683672	0.66515	0	.	.	4.54	-9.07	0.00619	-0.033000	0.12196	0.036000	0.13800	-0.316000	0.05924	0.001000	0.13787	0.096000	0.22607	0.002000	0.04165	0.2556:0.442:0.0:0.3024	8.168	0.30395	988	0.01987	.	.	.	.	.	rs116515695	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012614	0.015152	0.010870	0.000000	0.000000	0.000000	0.024540	0.015152	0.05263	1530.83	89	chr4	8228326	.	C	T	1530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=1263;ExcessHet=0.119;FS=7.808;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.295;SOR=1.174	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	17	0	2	0
chr4	8232023	8232023	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2770G:p.M924V,SH3TC1:NM_018986:exon13:c.A2998G:p.M1000V	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0076	0.00439297	0.0075	0.0020	0.0104	0.0001	0.0015	0.0099	0.0088	0.0054	0.0074126	1146	154602	rs146877451	0.0093	0.0093	0.0094	0.0093	0.0147	0.0092	0.0092	0.0122	0.0113	0.0019	0.0110	0.0044	0.0001	0.0024	0.0147	0.0105	0.0088	0.0060	0.0079	0.0079	0.0081	0.0077	0.0169	0.0075	0.0074	0.0152	0.0146	0.0020	0.0022	0.0169	0.0075	0	0.0024	0.0102	0.0112	0.0095	0.0050	1.0	0.00964	T	0.545	0.09588	T	0.001	0.07471	B	0.006	0.12133	B	0.869057	0.07164	N	1.059180	1	0.08975	N	0.885	0.21608	L	-0.9	0.74896	T	-0.59	0.17624	N	0.32	0.36043	-1.0194	0.23910	T	0.133	0.44524	T	10	0.005713284	0.00127	T	.	.	.	0.126	0.34673	.	.	0.407767136052	0.40396	0.19877772153993326	0.19794	0.0269784543744	0.02755	0.347499221563	0.17553	T	0.001755	0.01176	T	-0.421108	0.01683	T	-0.365993	0.37356	T	0.00322139377332797	0.00034	T	0.693931	0.30359	T	0.10272062	0.24275	0.06241503	0.12208	0.10272062	0.24274	0.06241503	0.12208	-6.655	0.51471	T	.	.	0.083	0.09143	B	.	.	-0.771593	0.01164	0.055	0.61548457451166827	0.06736	0.08101	0.14071	N	AEFBCI	0.107787	0.21463	N	-1.03118552391547	0.07962	0.3716787	-1.01041299243722	0.09555	0.4760869	0.999664706146666	0.41534	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	-0.534	0.11289	-0.658000	0.05429	-0.211000	0.10853	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.2259:0.3133:0.3324:0.1283	2.062	0.03375	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.010870	0.000000	0.000000	0.000000	0.015244	0.015152	0.05263	2469.83	34	chr4	8232023	.	A	G	2469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.238;DP=899;ExcessHet=0.119;FS=3.251;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1239,0,1838	17	0	2	0
chr4	8232080	8232080	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2827G:p.K943E,SH3TC1:NM_018986:exon13:c.A3055G:p.K1019E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0211122064486	.	0.000998403	0.0004	0	8.661e-05	0	0	1.514e-05	0	0.0025	0.0003234	50	154602	rs552981639	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.987e-05	0	0	0	0	0	5.396e-06	0.0002	0.0029	0.0001	0.0001	7.72e-05	0.0001	0.0033	6.517e-05	5.328e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.02	0.49613	D	0.143	0.33219	T	0.004	0.12183	B	0.008	0.13708	B	0.500301	0.11957	N	0.773311	1	0.08975	N	0.69	0.16971	N	-0.84	0.74265	T	-1.37	0.33998	N	0.373	0.41459	-0.9332	0.43665	T	0.237	0.60487	T	10	0.0048600733	0.00104	T	0.021112	0.43827	T	0.141	0.37795	0.492	0.57890	0.665944241059	0.66313	0.15424142490766451	0.15345	0.0351629028238	0.03706	0.510818243027	0.40337	T	0.001529	0.00977	T	-0.344982	0.05051	T	-0.273246	0.47491	T	0.0416977371532342	0.03998	T	0.832017	0.49964	T	0.16424654	0.36620	0.12773523	0.30744	0.16424654	0.36620	0.12773523	0.30743	-9.569	0.71288	D	.	.	0.120	0.24901	B	.	.	1.962359	0.24926	16.58	0.98902129658538995	0.48199	0.14956	0.18672	N	AEFBCI	0.133364	0.25300	N	-0.783896301896087	0.13729	0.6784747	-0.735166422461594	0.16088	0.8493699	0.999782421129685	0.43007	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	2.3	0.27735	1.134000	0.31055	3.562000	0.39091	0.641000	0.52212	0.001000	0.13787	0.992000	0.31684	0.112000	0.18829	0.714:0.286:0.0:0.0	11.498	0.49666	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1567.33	34	chr4	8232080	.	A	G	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.225;DP=789;ExcessHet=0;FS=5.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.129;SOR=0.399	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr4	8237492	8237492	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon17:c.G3347A:p.R1116H,SH3TC1:NM_018986:exon17:c.G3575A:p.R1192H	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.0780067011686	.	.	0.0004	0.0002	0.0002	0	0	0.0003	0	0.0013	0.0001488	23	154602	rs150501798	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	3.034e-05	4.63e-05	0	0	0.0001	0.0006	0.0001	0.0001	0.0007	0.0001	0.0001	6.438e-05	0.0001	0.0002	6.522e-05	5.331e-05	0.0001	7.897e-05	2.423e-05	0	0	0	0	9.42e-05	0	0.0002	0.0005	0.0002	0.022	0.48642	D	0.028	0.54934	D	1.0	0.90584	D	0.954	0.69447	D	0.000003	0.62929	D	0.000000	0.995892	0.43528	D	2.745	0.80253	M	-1.02	0.76300	T	-3.0	0.62343	D	0.564	0.58798	0.312	0.87742	D	0.605	0.85983	D	10	0.57432455	0.65494	D	0.078007	0.72905	D	0.623	0.85406	0.723	0.85761	0.817202014892	0.81547	0.6166514170821364	0.61597	0.210700871631	0.23564	0.653098762035	0.60426	T	0.040494	0.25546	T	-0.0815978	0.39455	T	-0.00326742	0.70124	D	0.479720026254654	0.31887	T	0.940006	0.77317	D	0.23895407	0.46779	0.17117517	0.39281	0.23895407	0.46779	0.17117517	0.39280	-11.504	0.82351	D	.	.	0.263	0.49721	B	.	.	4.648423	0.74080	26.1	0.99905334548552627	0.97651	0.91307	0.53270	D	AEFBCI	0.590024	0.58668	D	0.544228140930551	0.69731	5.398823	0.449346536065174	0.64673	4.728195	0.999999998784292	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	5.228000	0.65139	7.329000	0.58196	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.145000	0.20128	0.0:0.0:1.0:0.0	17.023	0.86313	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001529	0.000000	0.001359	0.000000	0.050000	0.000000	0.003165	0.000000	0.02632	1054.33	37	chr4	8237492	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=732;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.034;SOR=0.97	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1068,0,904	18	0	1	0
chr4	8414862	8414862	T	C	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375789:exon3:c.A160G:p.R54G,ACOX3:NM_001101667:exon4:c.A445G:p.R149G,ACOX3:NM_001375783:exon4:c.A445G:p.R149G,ACOX3:NM_001375784:exon4:c.A373G:p.R125G,ACOX3:NM_001375785:exon4:c.A445G:p.R149G,ACOX3:NM_001375786:exon4:c.A445G:p.R149G,ACOX3:NM_001375787:exon4:c.A445G:p.R149G,ACOX3:NM_001375788:exon4:c.A445G:p.R149G,ACOX3:NM_001375790:exon4:c.A445G:p.R149G,ACOX3:NM_003501:exon4:c.A445G:p.R149G	.	429	1085	8	0	0	8	0.00367309	.	.	.	3185281	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.482	0.122622679502	0.0014	0.000798722	0.0012	0.0002	0.0009	0	0	0.0014	0.0022	0.0024	0.0011449	177	154602	rs114127771	0.0008	0.0008	0.0007	0.0010	0.0090	0.0008	0.0008	0.0071	0.0064	0.0004	0.0009	0.0142	0	3.744e-05	0.0090	0.0004	0.0019	0.0022	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	2.405e-05	0	0.0007	0.0141	0	0	0.0034	0.0007	0.0019	0.0006	0.286	0.27904	T	0.184	0.29056	T	0.036	0.26116	B	0.028	0.26930	B	0.410311	0.04587	N	1.355360	1	0.08975	N	0.695	0.17993	N	-0.06	0.98917	T	-1.94	0.45042	N	0.085	0.06322	0.516	0.90774	D	0.876	0.95868	D	10	0.007192403	0.00164	T	0.122623	0.80364	D	0.482	0.77206	.	.	0.936951009075	0.93630	0.4627677085656908	0.46195	0.123022825766	0.13861	0.305418729782	0.11214	T	0.352145	0.71962	T	-0.149393	0.28405	T	0.0058467	0.70714	D	0.00862911314134936	0.00106	T	0.614539	0.23960	T	0.07020346	0.15445	0.04672292	0.06573	0.07020346	0.15444	0.04672292	0.06573	-5.88	0.47002	T	.	.	0.066	0.07602	B	.;.;.;.	.;.;.;.	1.156321	0.15446	11.86	0.92983454943213228	0.22566	0.11408	0.16614	N	AEFGBI	0.054442	0.09900	N	-0.878841326331892	0.11347	0.547103	-0.91047357832535	0.11846	0.6060203	0.972851730516041	0.29406	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.9	2.68	0.30839	0.788000	0.26533	2.058000	0.30379	0.661000	0.55757	0.001000	0.13787	0.046000	0.21717	0.003000	0.05239	0.0:0.0:0.1969:0.803	8.486	0.32234	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.014946	0.000000	0.000000	0.017241	0.006098	0.003788	0.02632	2864.33	34	chr4	8414862	.	T	C	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.814;DP=868;ExcessHet=0;FS=0.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.979;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr4	8468190	8468190	C	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon9:c.C1048T:p.P350S,TRMT44:NM_152544:exon9:c.C1771T:p.P591S	.	434	1085	3	0	0	3	0.00138058	.	.	.	3347534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.263	0.0179453887654	7.7e-05	.	0.0003	0	0	0.0017	0	0.0003	0	0.0002	0.0002523	39	154602	rs199651886	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	2.236e-05	0.0003	0.0003	0	0.0016	0.0002	8.279e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.698e-05	0.0002	0.0002	0	0	6.539e-05	0.0003	0.0004	0	0	0.0003	0	0	0.011	0.55530	D	0.009	0.66756	D	0.999	0.77913	D	0.993	0.81110	D	0.000016	0.62929	D	0.069988	0.983689	0.40046	D	3.06	0.86941	M	1.85	0.26445	T	-6.99	0.93621	D	0.693	0.69825	-0.7185	0.59536	T	0.181	0.52858	T	10	0.30244505	0.47781	T	0.017945	0.39844	T	0.263	0.57612	.	.	0.252681307341	0.24864	0.6527192436132627	0.65207	0.154658145323	0.17468	0.610169112682	0.54340	T	0.330325	0.70052	T	-0.201855	0.20537	T	-0.108279	0.62748	T	0.372395595899838	0.27890	T	0.864413	0.57326	D	0.3345531	0.55841	0.27709925	0.53660	0.3345531	0.55841	0.27709925	0.53659	-9.644	0.78856	D	.	.	0.305	0.53402	B	.;.	.;.	3.364001	0.46455	22.3	0.99865584683875575	0.94366	0.93136	0.57420	D	AEFDBI	0.175690	0.30287	N	0.425829200953343	0.62846	4.507519	0.276760956712555	0.54185	3.584321	0.999999986002514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.83	4.83	0.61880	3.354000	0.51970	4.721000	0.44505	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.101000	0.18331	0.0:1.0:0.0:0.0	16.269	0.82433	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1299.33	33	chr4	8468190	.	C	T	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=744;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.584;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	18	0	1	0
chr4	8475915	8475915	G	A	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon11:c.G1465A:p.A489T,TRMT44:NM_152544:exon11:c.G2188A:p.A730T	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0002	0.00698882	0.0034	9.612e-05	0	0.0002	0.0002	0.0001	0.0011	0.0243	0.0030595	473	154602	rs145864385	0.0014	0.0014	0.0009	0.0020	0.0209	0.0014	0.0014	0.0201	0.0198	5.974e-05	6.708e-05	0	2.519e-05	0.0002	0.0003	0.0002	0.0017	0.0209	0.0011	0.0011	0.0007	0.0016	0.0300	0.0010	0.0010	0.0261	0.0245	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0005	0.0300	0.291	0.14945	T	0.259	0.23097	T	0.622	0.39964	P	0.107	0.31211	B	0.082230	0.20821	N	0.505809	1	0.08975	N	1.59	0.40313	L	2.23	0.18083	T	-0.98	0.25986	N	0.206	0.22870	-1.0353	0.18762	T	0.025	0.10866	T	10	0.0040942132	0.00080	T	.	.	.	0.036	0.09122	.	.	0.112648838833	0.10856	0.48388820641172203	0.48308	0.0256598045511	0.02623	0.330036997795	0.14939	T	0.005943	0.05383	T	-0.591508	0.00164	T	-0.604183	0.12462	T	0.0136240195992518	0.00252	T	0.840516	0.51562	T	0.027927667	0.02054	0.041343026	0.04677	0.027927667	0.02053	0.041343026	0.04677	-7.406	0.56947	T	.	.	0.103	0.18247	B	.	.	2.343247	0.30033	18.31	0.97191707197004218	0.32771	0.14925	0.18656	N	AEFDBI	0.080571	0.16293	N	-0.390765129430621	0.25797	1.403068	-0.433457758603428	0.24021	1.313163	0.99806690504148	0.36380	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.32	3.43	0.38372	2.126000	0.41648	2.907000	0.35485	0.676000	0.76740	0.040000	0.20979	0.215000	0.23672	0.008000	0.08271	0.0:0.3509:0.4152:0.2338	7.653	0.27523	957	0.09725	Zinc finger, CCCH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1387.33	35	chr4	8475915	.	G	A	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=741;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.636;SOR=0.768	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1290	18	0	1	0
chr4	8604133	8604133	C	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.C621A:p.D207E,CPZ:NM_001014447:exon4:c.C654A:p.D218E,CPZ:NM_001014448:exon4:c.C243A:p.D81E	.	422	1049	27	1	23	52	0.0136342	.	.	.	3206958	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00359425	0.0113	0.0042	0.0118	0	0.0012	0.0158	0.0209	0.0077	0.0059249	916	154602	rs28421391	0.0081	0.0081	0.0080	0.0082	0.0329	0.0080	0.0080	0.0290	0.0275	0.0026	0.0069	0.0191	2.597e-05	0.0011	0.0329	0.0087	0.0089	0.0060	0.0064	0.0064	0.0068	0.0061	0.0094	0.0061	0.0060	0.0082	0.0079	0.0028	0	0.0094	0.0138	0	0.0007	0.0408	0.0087	0.0118	0.0077	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.030854	0.25250	N	0.435749	1	0.81001	D	-2.86	0.00020	N	3.38	0.05778	T	1.52	0.00719	N	0.104	0.08786	-0.9370	0.43088	T	0.002	0.00676	T	10	0.0054033995	0.00119	T	.	.	.	0.082	0.23913	0.377	0.39156	0.371718192555	0.36778	0.4251529541912322	0.42432	0.00378164286504	0.00325	0.465445458889	0.34057	T	0.014025	0.12018	T	-0.67938	0.00048	T	-0.741694	0.03820	T	0.0090220682863954	0.00113	T	0.558744	0.19484	T	0.023960322	0.01182	0.026698772	0.00774	0.03801165	0.04983	0.026698772	0.00774	0.284	0.00274	T	0.04000093292292632	0.00342	0.079	0.14751	B	.;.;.	.;.;.	-1.540176	0.00272	0.004	0.92848179743538006	0.22386	0.06174	0.12157	N	AEFDBHCI	0.068660	0.13554	N	-1.52204740467275	0.01705	0.07463004	-1.38926570228566	0.03365	0.1568363	0.99825109803091	0.36648	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	-3.98	0.03810	-1.293000	0.02878	-11.402000	0.00608	-0.185000	0.09859	0.005000	0.17040	0.000000	0.08366	0.818000	0.38543	0.3608:0.1816:0.1947:0.2629	0.154	0.00090	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	921.33	37	chr4	8604133	.	C	A	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.624;SOR=0.601	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1227	18	0	1	0
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.02632	4144.33	36	chr4	8612035	.	G	T	4144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=1145;ExcessHet=0;FS=2.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.619;SOR=0.581	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr4	8612077	8612077	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1245A:p.M415I,CPZ:NM_001014447:exon8:c.G1278A:p.M426I,CPZ:NM_001014448:exon8:c.G867A:p.M289I	.	.	.	.	.	.	.	.	.	.	.	3245848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00621327799994	7.7e-05	.	8.391e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs372498180	4.721e-05	4.72e-05	4.629e-05	4.814e-05	6.957e-05	3.794e-05	3.476e-05	4.092e-05	3.742e-05	0	6.711e-05	0	0	1.878e-05	0	5.216e-05	1.656e-05	6.957e-05	3.289e-05	3.283e-05	3.857e-05	2.693e-05	5.882e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.417e-05	0	0	0	0	0	0	5.882e-05	0	0	0.375	0.17584	T	0.363	0.29540	T	0.797	0.49920	P	0.495	0.47504	P	0.000260	0.46924	U	0.186485	0.970054	0.26478	N	1.355	0.33814	L	4.03	0.03149	T	-1.41	0.34795	N	0.523	0.56662	-1.0368	0.18295	T	0.019	0.07893	T	10	0.22585219	0.39426	T	0.006213	0.16288	T	0.093	0.26882	0.566	0.68768	0.126345400529	0.12197	0.6772398649524226	0.67662	0.0058838960761	0.00512	0.638489961624	0.58349	T	0.031535	0.22084	T	-0.317133	0.07136	T	-0.488765	0.23519	T	0.112010814249516	0.13630	T	0.868913	0.59601	D	0.3028536	0.53159	0.27214602	0.53122	0.3028536	0.53159	0.27214602	0.53121	-7.344	0.58917	T	0.1422246703628874	0.16066	0.312	0.53951	B	.;.;.	.;.;.	3.781369	0.54376	23.5	0.97640193863092029	0.35074	0.42783	0.26954	N	AEFBCI	0.177074	0.30430	N	-0.0484090459784448	0.39673	2.343442	-0.0287955153054137	0.38419	2.263285	0.675291197919005	0.22419	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	0.413000	0.20869	6.027000	0.52873	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.991000	0.66497	0.1481:0.1646:0.6872:0.0	6.522	0.21476	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3514.33	36	chr4	8612077	.	G	A	3514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1070;ExcessHet=0;FS=0.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-2.206;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07895	7906.77	222	chr4	8614433	.	C	G	7906.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.422;DP=3073;ExcessHet=0;FS=0.453;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.59;ReadPosRankSum=1.66;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:168,0:168:99:.:.:0,120,1800:.	17	1	1	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	59.82	50	chr4	9210768	.	C	G	59.82	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.77;DP=812;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.056;MQ=22.25;MQRankSum=-0.613;QD=0.58;ReadPosRankSum=0.728;SOR=0.301	GT:AD:DP:GQ:PL	0/1:45,8:53:51:51,0,1043	16	0	2	1
chr4	9210852	9210852	G	T	exonic	USP17L10	.	stopgain	USP17L10:NM_001256852:exon1:c.G196T:p.E66X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs370796842	4.654e-05	0.0018	1.579e-05	7.621e-05	0.0006	2.679e-05	2.057e-05	0.0002	0.0001	0	0	0	0.0006	0	0	4.219e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.860432	0.08899	U	0.889113	0.994777	0.81001	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185535	0.72552	D	0.0287322	0.72195	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	3.647222	0.51748	23.1	0.98758829053807906	0.45785	0.20073	0.20904	N	AEFI	0.055651	0.10223	N	0.174833157836009	0.49992	3.193744	-0.247014208612486	0.29873	1.677308	1.67667411561021E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.035000	0.13685	.	.	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	2.0E-4:0.0:0.9998:0.0	6.567	0.21715	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	33.09	.	chr4	9210852	.	G	T	33.09	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=332;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=24.91;MQRankSum=0.967;QD=11.03;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	0	1	10
chr4	9211135	9211135	A	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A479C:p.D160A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.00413190320197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.913e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	4.995	0.99862	H	0.81	0.48460	T	-7.36	0.94674	D	0.565	0.58883	-0.4187	0.71434	T	0.360	0.72178	T	7	0.9495988	0.94292	D	0.004132	0.09900	T	0.335	0.65718	0.914	0.98346	0.324986149311	0.32103	0.0539462097334608	0.05336	.	.	0.628609061241	0.56948	T	0.279573	0.65225	T	-0.0244227	0.48219	T	-0.272858	0.47530	T	0.999674081802368	0.98435	D	0.948305	0.85096	D	0.8041652	0.84172	0.5725491	0.75243	0.8041652	0.84174	0.5725491	0.75244	-10.208	0.75147	D	.	.	0.504	0.64745	A	.;.	.;.	3.956049	0.57992	23.9	0.98233942307844913	0.39414	0.81381	0.40796	D	AEFI	0.201844	0.32848	N	-0.118902843816456	0.36570	2.115614	-0.392213563419094	0.25227	1.38612	3.15107141645453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	4.146000	0.57840	.	.	0.493000	0.22426	1.000000	0.71638	0.919000	0.28284	0.427000	0.27384	0.9998:0.0:2.0E-4:0.0	5.092	0.14050	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	82.66	.	chr4	9211135	.	A	C	82.66	.	AC=2;AF=0.2;AN=10;DP=224;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=26.35;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	14
chr4	9211141	9211141	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A485T:p.H162L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0080383253711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	3.96	0.96509	H	3.34	0.06063	T	-10.09	0.98901	D	0.408	0.45992	-1.0962	0.04583	T	0.030	0.12760	T	7	0.6321055	0.68575	D	0.008038	0.21316	T	0.183	0.45592	0.796	0.91657	0.483596354421	0.47990	0.030639422456034803	0.03012	.	.	0.633650541306	0.57663	T	0.051811	0.28983	T	-0.0703734	0.41268	T	-0.338863	0.40472	T	0.999839782714844	0.99255	D	0.948005	0.79945	D	0.8231549	0.85434	0.63289875	0.78578	0.8231549	0.85435	0.63289875	0.78579	-9.419	0.70354	D	.	.	0.203	0.42834	B	.;.	.;.	3.467043	0.48348	22.6	0.91139033183006979	0.20392	0.75062	0.36736	D	AEFI	0.297035	0.40672	N	-0.321509554042519	0.28333	1.561852	-0.515597888344849	0.21729	1.176873	3.15107141645453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	5.722000	0.68134	.	.	0.493000	0.22426	1.000000	0.71638	0.630000	0.25861	0.435000	0.27561	0.9998:0.0:2.0E-4:0.0	5.092	0.14050	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	82.66	.	chr4	9211141	.	A	T	82.66	.	AC=2;AF=0.2;AN=10;DP=224;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=30.36;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	14
chr4	9235181	9235181	C	T	exonic	USP17L15	.	nonsynonymous SNV	USP17L15:NM_001256894:exon1:c.C797T:p.T266M	.	1280	240	1	1	0	3	0.00621118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	0.0064	0	0	0	0	0	0	0.0177	3.84e-05	1	26028	rs780346290	0.0015	0.0003	0.0008	0.0020	0.0103	0.0013	0.0012	0.0088	0.0082	0	0	0	0	0	0	2.32e-05	0.0013	0.0103	0.0004	0.0004	0	0.0009	0.0133	7.805e-05	3.183e-05	0.0024	0.0010	0	0	0	0	0	0	0	0	0	0.0133	0.051	0.39334	T	0.093	0.40110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.67	0.42885	L	1.48	0.31731	T	-2.15	0.48687	N	0.153	0.15749	-0.9497	0.41023	T	0.079	0.31254	T	4	0.011419773	0.00250	T	.	.	.	0.037	0.09474	0.47	0.54376	0.156986980423	0.15292	0.012942995932063961	0.01252	.	.	0.555900752544	0.46689	T	0.016338	0.13527	T	-0.287473	0.09892	T	-0.650711	0.08904	T	0.122893969815074	0.14710	T	0.570643	0.20320	T	0.07191661	0.15958	0.20734411	0.44989	0.07191661	0.15957	0.20734411	0.44988	-8.553	0.64779	D	.	.	0.081	0.14155	B	.;.	.;.	2.003667	0.25460	16.77	0.97357381403956134	0.33554	0.01286	0.04483	N	AEFI	0.045106	0.07337	N	-0.659504473299143	0.17184	0.8820768	-0.876575729082071	0.12649	0.6519406	1.095098486459E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.082000	0.14697	.	.	0.273000	0.18552	0.932000	0.32345	0.000000	0.08366	0.070000	0.16646	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	2207.22	.	chr4	9235181	.	C	T	2207.22	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.79;DP=129;ExcessHet=0;FS=5.601;MLEAC=5;MLEAF=0.5;MQ=52.21;MQRankSum=1.88;QD=31.99;ReadPosRankSum=-1.08;SOR=2.009	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	14
chr4	9235270	9235270	C	A	exonic	USP17L15	.	nonsynonymous SNV	USP17L15:NM_001256894:exon1:c.C886A:p.Q296K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755279052	0	9.401e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.13617	N	1.59	0.28836	T	0.69	0.02195	N	0.057	0.02861	-0.9597	0.39236	T	0.029	0.12234	T	5	0.2745545	0.45009	T	.	.	.	0.034	0.08419	0.414	0.45216	0.0806252709748	0.07271	0.007684030665009038	0.00734	.	.	0.57069849968	0.48776	T	7.28E-4	0.00333	T	-0.502895	0.00551	T	-0.69085	0.06340	T	0.0568557002919151	0.06664	T	0.460954	0.13351	T	0.24719815	0.47696	0.12283662	0.29627	0.24719815	0.47696	0.12283662	0.29626	-3.801	0.20820	T	.	.	0.090	0.12750	B	.;.	.;.	0.963192	0.13398	9.904	0.6170497815334588	0.06776	0.01252	0.04404	N	AEFI	0.026282	0.01945	N	-0.900404539463813	0.10833	0.5196488	-1.00470466867239	0.09681	0.4830779	1.11923775849212E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	0.36	0.15332	0.889000	0.27917	.	.	0.266000	0.18458	0.996000	0.39380	0.001000	0.17328	0.028000	0.12845	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	41.66	.	chr4	9235270	.	C	A	41.66	.	AC=2;AF=0.2;AN=10;DP=153;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=36;QD=20.83;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	14
chr4	9243884	9243884	G	C	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G6C:p.E2D	.	490	1019	13	0	0	13	0.00633837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.785207235613	.	.	0.0034	0	0.0099	0	0	0.0046	0	0	0.0004657	72	154602	rs746198002	0.0020	0.0075	0.0020	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0018	0.0038	0	0.0027	0.0019	0.0022	0.0015	0.0005	0.0003	0.0015	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	9.674e-05	0	0.0003	0	0	0.0002	0	0.0004	0	0	0.123	0.27544	T	0.315	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	0.15	0.05310	N	0.15	0.15328	-0.9454	0.41748	T	0.021	0.08963	T	6	0.03258398	0.01413	T	0.785207	0.98310	D	0.018	0.03083	0.246	0.18139	0.0401082797425	0.02173	0.020831925818852563	0.02036	.	.	0.541121840477	0.44603	T	0.00744	0.06846	T	-0.62805	0.00098	T	-0.66782	0.07749	T	0.00538380027744191	0.00058	T	0.390461	0.09684	T	0.08194392	0.18854	0.09321036	0.22005	0.08194392	0.18853	0.09321036	0.22004	-3.994	0.23714	T	.	.	0.121	0.25133	B	.;.	.;.	0.735441	0.11045	7.701	0.96409607182053592	0.29720	0.01105	0.04049	N	AEFI	0.030943	0.03210	N	-0.870095447995878	0.11559	0.558448	-1.05359465695228	0.08632	0.4253761	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.094000	0.14946	.	.	0.304000	0.19002	0.121000	0.23193	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009499	0.021277	0.016194	0.000000	0.000000	0.000000	0.000000	0.005495	0.05263	268.83	629	chr4	9243884	.	G	C	268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.67;DP=9206;ExcessHet=0.119;FS=2.95;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.01;MQRankSum=0.925;QD=0.22;ReadPosRankSum=-0.137;SOR=0.37	GT:AD:DP:GQ:PL	0/0:366,0:366:99:0,120,1800	17	0	2	0
chr4	9244879	9244879	A	G	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.A1001G:p.H334R	.	1197	316	9	0	0	9	0.0140406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.508361647957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167677267	0.0027	0.0095	0.0029	0.0026	0.0033	0.0026	0.0025	0.0031	0.0030	0.0002	0.0009	0.0038	0.0006	0.0026	0	0.0033	0.0026	0.0026	0.0080	0.0080	0.0080	0.0080	0.0228	0.0074	0.0072	0.0169	0.0148	0.0006	0	0.0030	0.0221	0.0133	0.0135	0	0.0150	0.0042	0.0228	0.028	0.46129	D	0.023	0.58089	D	.	.	.	.	.	.	0.000270	0.46590	N	0.081780	0.877035	0.35675	D	4.55	0.99125	H	1.83	0.24841	T	-7.32	0.94537	D	0.693	0.69825	-0.1594	0.78686	T	0.290	0.66133	T	7	0.6232799	0.68099	D	0.508362	0.95262	D	0.208	0.49714	0.951	0.99428	0.117506650769	0.11410	0.0640731943701918	0.06346	.	.	0.467071056366	0.34278	T	0.26042	0.63180	T	-0.0326292	0.47034	T	-0.284646	0.46326	T	0.492950975894928	0.32372	T	0.806819	0.47234	T	0.48180032	0.66010	0.35956147	0.61413	0.48180032	0.66010	0.35956147	0.61412	-9.085	0.68242	D	.	.	0.958	0.87863	P	.;.	.;.	2.119805	0.26979	17.31	0.73507343099269651	0.10353	0.67844	0.33581	D	AEFI	0.216727	0.34194	N	-0.0967589040984963	0.37533	2.185091	-0.413343132654461	0.24605	1.348304	1.5210448038379E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	3.952000	0.56399	.	.	0.327000	0.19478	1.000000	0.71638	0.596000	0.25695	0.104000	0.18471	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	59.4	4	chr4	9244879	.	A	G	59.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.654;DP=324;ExcessHet=0;FS=7.224;InbreedingCoeff=-0.0315;MLEAC=1;MLEAF=0.026;MQ=22.4;MQRankSum=-0.212;QD=1.56;ReadPosRankSum=0.64;SOR=0.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,266:.	18	0	1	0
chr4	9248708	9248708	G	A	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.G79A:p.A27T,USP17L18:NM_001256859:exon1:c.G79A:p.A27T	.	467	1034	21	0	0	21	0.0100527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00270686602658	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774572298	0.0004	0.0032	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	7.783e-05	0.0002	0	0	0.0027	0	0.0001	0.0002	0.0004	0.0003	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	4.828e-05	0	0.0005	0	0.0002	0.0013	0	0.0002	0	0	0.074	0.34621	T	0.524	0.14865	T	0.915	0.50599	P	0.313	0.41496	B	0.717578	0.06294	U	1.405290	1	0.08975	N	0.805	0.20218	L	2.7	0.12162	T	-0.74	0.20791	N	0.087	0.06454	-0.9966	0.30865	T	0.018	0.07565	T	9	0.017468572	0.00373	T	0.002707	0.05579	T	0.042	0.11227	0.217	0.13788	0.0401082797425	0.02173	0.05272389271449757	0.05214	.	.	0.477031886578	0.35648	T	0.008536	0.07834	T	-0.33562	0.05697	T	-0.719872	0.04802	T	0.0110542226950896	0.00160	T	0.767723	0.39623	T	0.07381067	0.16520	0.116396435	0.28099	0.07381067	0.16520	0.116396435	0.28098	-3.332	0.14153	T	.	.	0.087	0.11076	B	.;.	.;.	0.929057	0.13044	9.546	0.9751230001183635	0.34357	0.00185	0.01079	N	AEFI	0.025066	0.01654	N	-0.901188260506263	0.10814	0.5186707	-1.08650696883162	0.07964	0.3896231	1.11218006871861E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.066000	0.14358	.	.	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	69.71	213	chr4	9248708	.	G	A	69.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.024;DP=12753;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=29.25;MQRankSum=0.326;QD=0.04;ReadPosRankSum=0.672;SOR=0.9	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	17	0	1	1
chr4	9249805	9249805	A	T	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1176T:p.R392S,USP17L18:NM_001256859:exon1:c.A1176T:p.R392S	.	847	669	4	2	0	8	0.00594354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0017472161877	.	.	0	.	0	0	0	0	0	0	3.84e-05	1	26028	rs756994613	0.0025	0.0059	0.0025	0.0026	0.0031	0.0023	0.0022	0.0026	0.0025	0.0006	0.0020	0.0015	0.0010	0.0018	0	0.0027	0.0026	0.0031	0.0004	0.0012	0.0008	0	0.0045	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0045	0.649	0.04864	T	0.722	0.06245	T	0.008	0.14655	B	0.003	0.08700	B	0.017419	0.01465	N	2.715260	1	0.08975	N	-0.71	0.01811	N	1.06	0.39781	T	0.0	0.07008	N	0.051	0.02272	-1.0375	0.18078	T	0.049	0.20908	T	9	0.045415103	0.03610	T	0.001747	0.02960	T	0.029	0.06676	0.284	0.24121	0.0401082797425	0.02173	0.008274381141416598	0.00791	.	.	0.460678100586	0.33403	T	0.002775	0.02166	T	-0.291012	0.09535	T	-0.655795	0.08553	T	0.00171555178951843	0.00017	T	0.40156	0.10241	T	0.10660611	0.25207	0.11053443	0.26652	0.10660611	0.25207	0.11053443	0.26651	-3.714	0.19525	T	.	.	0.136	0.29697	B	.;.	.;.	0.264988	0.06429	2.902	0.6230958745177313	0.06930	0.00790	0.03231	N	AEFI	0.042454	0.06590	N	-1.35723425732346	0.03050	0.1356666	-1.41418090314579	0.03110	0.1444204	1.22265754935828E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.206000	0.17174	.	.	-0.653000	0.04380	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	34.32	3	chr4	9249805	.	A	T	34.32	.	AC=2;AF=0.077;AN=26;DP=128;ExcessHet=0;FS=0;InbreedingCoeff=0.4052;MLEAC=2;MLEAF=0.077;MQ=43;QD=17.16;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	6
chr4	9259402	9259402	A	G	exonic	USP17L11;USP17L20;USP17L22	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1279G:p.R427G,USP17L20:NM_001256861:exon1:c.A1279G:p.R427G,USP17L22:NM_001256863:exon1:c.A1279G:p.R427G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.688740902271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.889e-05	4.771e-06	0	3.472e-05	0.0001	0	0	.	.	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.069	0.45744	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.99	0.41750	T	-1.11	0.28703	N	0.095	0.08646	-1.0224	0.22932	T	0.067	0.27502	T	6	0.16836247	0.31384	T	0.688741	0.97434	D	0.010	0.01040	0.448	0.50793	0.333906830038	0.33007	0.01921742350940877	0.01875	.	.	0.475211530924	0.35398	T	0.02256	0.17371	T	-0.27113	0.11630	T	-0.627236	0.10625	T	0.153695898384988	0.17394	T	0.668433	0.29438	T	0.12742832	0.29819	0.13362601	0.32039	0.12742832	0.29819	0.13362601	0.32038	-3.994	0.23714	T	.	.	0.074	0.05188	B	.;.	.;.	2.194266	0.27977	17.64	0.94069291663749144	0.24211	0.00063	0.00458	N	AEFI	0.037163	0.05067	N	-0.988351768918384	0.08852	0.4166448	-1.2209657003042	0.05574	0.2659581	1.8242228376226E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	-0.72	0.10631	-0.786000	0.04729	.	.	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	47.16	.	chr4	9259402	.	A	G	47.16	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.746;DP=40;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=20;MQRankSum=0;QD=2.77;ReadPosRankSum=-0.681;SOR=0.12	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	0	1	15
chr4	9268691	9268691	G	C	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1073C:p.S358T,USP17L22:NM_001256863:exon1:c.G1073C:p.S358T	.	1201	286	32	3	0	38	0.0622951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00252801589494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190046545	0.0162	0.0048	0.0141	0.0180	0.0925	0.0152	0.0149	0.0834	0.0799	0.0013	0.0668	0.0042	0.0153	0.0084	0.0085	0.0099	0.0112	0.0925	0.0167	0.0016	0	0.0357	0.0217	0.0030	0.0012	.	.	0	.	0	0	.	0.0357	.	0.0217	.	0	0.003	0.68238	D	0.008	0.67890	D	0.002	0.09854	B	0.026	0.20792	B	0.272848	0.15094	N	0.530180	0.999999	0.08975	N	0.23	0.09627	N	3.35	0.05989	T	-1.09	0.28290	N	0.042	0.01825	-0.9598	0.39218	T	0.008	0.02842	T	9	0.001774013	0.00023	T	0.002528	0.05065	T	0.047	0.12962	.	.	.	.	0.010295473243389567	0.00990	.	.	0.555411934853	0.46620	T	0.012805	0.11189	T	-0.374487	0.03373	T	-0.775701	0.02586	T	0.00945624223669672	0.00122	T	0.440756	0.12177	T	0.23182844	0.45961	0.15108691	0.35605	0.23182844	0.45961	0.15108691	0.35604	-7.752	0.59368	D	.	.	0.109	0.20896	B	.;.	.;.	1.406614	0.18215	13.61	0.86885054519545457	0.16839	0.08602	0.14508	N	AEFI	0.043507	0.06886	N	-1.09628047717139	0.06711	0.309726	-1.13963482210736	0.06956	0.3365952	1.15120976389251E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	-0.674	0.10797	0.616000	0.24038	.	.	0.297000	0.18867	0.057000	0.21666	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	268.17	62	chr4	9268691	.	G	C	268.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.792;DP=1205;ExcessHet=0;FS=3.082;InbreedingCoeff=-0.1255;MLEAC=1;MLEAF=0.029;MQ=36.27;MQRankSum=-0.686;QD=3.39;ReadPosRankSum=1.07;SOR=0.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:6:.:.:0,6,90:.	16	0	1	2
chr4	9980627	9980627	C	T	exonic	SLC2A9	.	nonsynonymous SNV	SLC2A9:NM_020041:exon5:c.G646A:p.G216R,SLC2A9:NM_001001290:exon6:c.G559A:p.G187R	Hypouricemia, renal, 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1037533	Hypouricemia,_renal,_2|not_provided|not_specified|SLC2A9-related_disorder	MONDO:MONDO:0012793,MedGen:C2677549,OMIM:612076|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.807	0.195782895098	.	0.000998403	0.0007	0	8.651e-05	0	0	0	0	0.0050	0.0005757	89	154602	rs561633150	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0.0003	3.597e-06	8.279e-05	0.0048	0.0001	0.0001	7.71e-05	0.0002	0.0039	8.163e-05	6.72e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.002	0.72154	D	0.005	0.72224	D	0.994	0.66517	D	0.974	0.73157	D	0.000120	0.50451	D	0.134922	0.999853	0.49910	D	3.2	0.89116	M	-1.06	0.76819	T	-4.38	0.81030	D	0.934	0.93959	0.525	0.90899	D	0.674	0.88710	D	9	0.09001055	0.15643	T	0.195783	0.86441	D	0.807	0.93738	0.908	0.98109	0.795177276677	0.79327	0.9533015545597506	0.95314	0.567022438611	0.52971	0.702770471573	0.67544	T	0.655511	0.89598	D	0.055386	0.59032	T	0.307735	0.88551	D	0.273012398624651	0.23876	T	0.980402	0.94055	D	0.96471757	0.97751	0.9404425	0.97797	0.9645578	0.97736	0.93936306	0.97726	-11.013	0.81911	D	0.9366729481310614	0.97513	0.990	0.93663	P	.;.;.;.	.;.;.;.	5.204542	0.87323	29.2	0.99935465231059051	0.99579	0.96236	0.68162	D	AEFBI	0.912107	0.87230	D	0.771364336631956	0.84287	8.246019	0.694903337475968	0.81991	7.657899	0.999999999786076	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	7.493000	0.80329	.	.	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	15.310	0.73732	856	0.34373	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1858.33	33	chr4	9980627	.	C	T	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=2066;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.265;SOR=0.719	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr4	10087915	10087915	T	C	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon5:c.A323G:p.H108R,WDR1:NM_017491:exon8:c.A743G:p.H248R	.	425	1049	46	2	0	50	0.0232775	.	.	.	1154593	Lazy_leukocyte_syndrome|not_provided	MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.00678914	0.0124	0.0022	0.0056	0	0.0167	0.0109	0.02	0.0185	0.0050452	780	154602	rs41268387	0.0070	0.0070	0.0066	0.0075	0.0216	0.0069	0.0069	0.0185	0.0173	0.0010	0.0034	0.0088	0.0001	0.0166	0.0216	0.0063	0.0064	0.0167	0.0053	0.0053	0.0048	0.0057	0.0168	0.0050	0.0048	0.0138	0.0127	0.0013	0	0.0035	0.0098	0.0010	0.0168	0.0204	0.0056	0.0047	0.0168	0.817	0.08534	T	0.554	0.24334	T	0.0	0.07471	B	0.002	0.06944	B	0.000190	0.48115	N	0.182612	0.99051	0.41175	D	0.09	0.08384	N	0.23	0.59717	T	0.92	0.05125	N	0.361	0.40565	-1.0858	0.06263	T	0.060	0.25237	T	10	0.0067503154	0.00153	T	.	.	.	0.067	0.19503	.	.	0.218628672733	0.21463	0.31849216096257105	0.31762	0.507810000154	0.48961	0.509267151356	0.40119	T	0.076434	0.35419	T	-0.45722	0.01023	T	-0.415916	0.31544	T	0.00694049655315045	0.00079	T	0.781022	0.45098	T	0.114508115	0.27032	0.09213647	0.21697	0.114508115	0.27032	0.09213647	0.21697	-5.521	0.42064	T	.	.	0.081	0.15430	B	.;.;.;.	.;.;.;.	2.535099	0.32784	19.15	0.91713494636780124	0.21009	0.95272	0.64079	D	AEFBCI	0.666365	0.63485	D	-0.392156960646774	0.25748	1.400014	-0.167274809422776	0.32748	1.866268	0.999999980427769	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.46	0.53567	4.560000	0.60512	2.236000	0.31572	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.074:0.0:0.926	10.835	0.45886	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016293	0.000000	0.017906	0.038235	0.000000	0.008621	0.012422	0.007692	0.05263	4029.83	34	chr4	10087915	.	T	C	4029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=950;ExcessHet=0.119;FS=0.393;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.882;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	17	0	2	0
chr4	10088370	10088370	A	G	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon4:c.T220C:p.Y74H,WDR1:NM_017491:exon7:c.T640C:p.Y214H	.	428	1093	1	0	0	1	0.000457247	.	.	.	1487848	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0390248057428	0.0007	0.000599042	0.0004	0.0022	0	0	0	0.0004	0	0	0.0001164	18	154602	rs115753948	9.404e-05	9.44e-05	0.0001	7.219e-05	0.0016	8.078e-05	7.602e-05	0.0013	0.0011	0.0016	0.0002	0.0004	0	0.0003	0	3.792e-05	0.0002	0	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0017	0.0015	0.0020	0	0.0001	0	0	0.0002	0	5.879e-05	0	0	0.001	0.91255	D	0.109	0.47581	T	0.854	0.47077	P	0.652	0.52532	P	0.233997	0.15857	N	0.621168	0.998949	0.21775	N	0.61	0.15665	N	0.23	0.59717	T	-3.12	0.65742	D	0.34	0.41261	-1.0020	0.29342	T	0.144	0.46732	T	10	0.019933134	0.00452	T	0.039025	0.58570	D	0.221	0.51721	.	.	0.269682111328	0.26585	0.23762488710161672	0.23676	0.538619484499	0.51112	0.632360637188	0.57480	T	0.34527	0.71368	T	-0.394106	0.02530	T	-0.374261	0.36393	T	0.13106428676359	0.15480	T	0.840116	0.53056	T	0.434064	0.63018	0.3532424	0.60888	0.434064	0.63018	0.3532424	0.60888	-4.106	0.25379	T	.	.	0.111	0.35077	B	.;.;.;.;.	.;.;.;.;.	3.853520	0.55833	23.7	0.99231166090363077	0.56214	0.94109	0.60139	D	AEFBCI	0.713291	0.66614	D	-0.478521996702497	0.22787	1.219122	-0.464583432747579	0.23136	1.260184	0.999999912560437	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.3	2.87	0.32523	5.096000	0.64369	2.502000	0.33033	-0.065000	0.16512	0.998000	0.41325	0.875000	0.27637	0.936000	0.47498	0.847:0.0:0.153:0.0	8.890	0.34589	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2397.33	185	chr4	10088370	.	A	G	2397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=930;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.599;SOR=0.902	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr4	10443571	10443571	C	T	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G2758A:p.A920T,ZNF518B:NM_001375816:exon3:c.G2758A:p.A920T,ZNF518B:NM_053042:exon3:c.G2758A:p.A920T	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0063009351165	.	0.00119808	0.0012	0	8.648e-05	0	0	0	0	0.0086	0.0009702	150	154602	rs558440989	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	2.987e-05	0	0	2.519e-05	0	0.0003	1.169e-05	0.0006	0.0092	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0002	0.0054	0.0047	2.407e-05	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	0.012	0.63918	D	0.016	0.17332	B	0.017	0.18140	B	0.001354	0.39310	N	0.177133	0.982945	0.24924	N	1.67	0.42885	L	4.71	0.01655	T	-1.0	0.26422	N	0.117	0.10626	-0.9459	0.41665	T	0.005	0.01833	T	10	0.0072772503	0.00166	T	0.006301	0.16551	T	0.053	0.14996	0.353	0.35246	0.043077524339	0.03247	0.13928643952740785	0.13851	0.0164635354854	0.01586	0.433574855328	0.29698	T	0.024311	0.18392	T	-0.529978	0.00384	T	-0.528222	0.19465	T	0.0466878070736073	0.04909	T	0.610139	0.23115	T	0.12458756	0.29228	0.11380789	0.27469	0.12458756	0.29228	0.11380789	0.27468	-2.818	0.08350	T	.	.	0.106	0.19478	B	.	.	1.884488	0.23939	16.21	0.9923633490160173	0.56405	0.80831	0.40370	D	AEFBCI	0.080062	0.16180	N	-0.482131183637459	0.22667	1.211916	-0.420606333599121	0.24394	1.335498	0.994403072892731	0.33622	0.722319	0.85440	0	0.643519	0.57511	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	6.01	1.15	0.19876	1.653000	0.36940	0.588000	0.19789	0.599000	0.40250	0.872000	0.30832	0.073000	0.22253	0.992000	0.67800	0.2544:0.5405:0.0:0.2051	4.863	0.12953	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1847.33	33	chr4	10443571	.	C	T	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.705;DP=786;ExcessHet=0;FS=2.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.345;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr4	10444541	10444541	C	G	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G1788C:p.E596D,ZNF518B:NM_001375816:exon3:c.G1788C:p.E596D,ZNF518B:NM_053042:exon3:c.G1788C:p.E596D	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00239617	0.0012	0	0.0006	0	0	0.0001	0	0.0081	0.0010543	163	154602	rs527390357	0.0005	0.0005	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	0	0.0004	0	2.519e-05	0	0.0010	3.597e-05	0.0006	0.0076	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	2.405e-05	0	6.539e-05	0	0.0002	0	0	1.47e-05	0	0.0079	0.0	0.91255	D	0.109	0.37449	T	0.779	0.44223	P	0.141	0.33616	B	0.017949	0.27599	N	0.253623	1	0.08975	N	1.04	0.26193	L	4.22	0.02640	T	-0.48	0.15379	N	0.144	0.14480	-0.8948	0.48502	T	0.006	0.02093	T	10	0.0049033165	0.00105	T	.	.	.	0.064	0.18567	0.195	0.10705	0.043077524339	0.03247	0.16471556355218106	0.16391	0.115428939008	0.13013	0.349755883217	0.17886	T	0.054229	0.29664	T	-0.47944	0.00745	T	-0.456331	0.27000	T	0.0715240929113961	0.08863	T	0.669433	0.27806	T	0.17226855	0.37908	0.10538454	0.25331	0.17226855	0.37907	0.10538454	0.25331	-3.59	0.17713	T	.	.	0.148	0.32780	B	.	.	1.978222	0.25134	16.65	0.99757571145131174	0.84772	0.37479	0.25771	N	AEFBCI	0.054974	0.10041	N	-0.294459211348751	0.29361	1.627574	-0.307791238519557	0.27846	1.548097	0.129708740320261	0.17065	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.35	1.28	0.20656	0.157000	0.16219	-0.262000	0.10418	0.599000	0.40250	0.016000	0.19238	0.253000	0.23932	0.686000	0.33718	0.0:0.4094:0.1796:0.411	4.380	0.10721	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1744.33	154	chr4	10444541	.	C	G	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=1034;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.35;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr4	10445703	10445703	G	A	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.C626T:p.T209M,ZNF518B:NM_001375816:exon3:c.C626T:p.T209M,ZNF518B:NM_053042:exon3:c.C626T:p.T209M	.	423	1095	3	1	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0156156855304	0.0002	0.000199681	0.0004	9.621e-05	0	0.0001	0	0.0005	0.0022	0.0005	0.0003428	53	154602	rs199541568	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	8.961e-05	6.708e-05	0.0016	0.0005	3.744e-05	0.0016	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	6.534e-05	0.0009	0	0	0.0068	0.0004	0.0005	0.0004	0.227	0.18498	T	0.107	0.37730	T	0.986	0.61523	D	0.475	0.46927	P	0.015648	0.28189	N	0.279835	1	0.08975	N	0.695	0.17993	N	1.71	0.26737	T	-0.05	0.07736	N	0.205	0.22742	-1.0773	0.07881	T	0.046	0.19879	T	10	0.019787073	0.00446	T	0.015616	0.36454	T	0.071	0.20720	.	.	0.043077524339	0.03247	0.3784980252198869	0.37764	0.0322144936095	0.03353	0.391817837954	0.23926	T	0.002655	0.02045	T	-0.444809	0.01212	T	-0.554748	0.16873	T	0.0283763736170129	0.01742	T	0.787021	0.42574	T	0.02309417	0.01021	0.041110124	0.04597	0.02309417	0.01021	0.041110124	0.04597	-4.614	0.32347	T	.	.	0.220	0.45036	B	.	.	3.232376	0.44089	21.9	0.99696445342407702	0.80316	0.58897	0.30767	D	AEFBCI	0.053381	0.09613	N	0.0562869088914495	0.44433	2.717383	0.127433411504905	0.45957	2.849824	0.618956558797468	0.21868	0.67177	0.52595	0	0.653731	0.59785	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.16	4.41	0.52588	2.342000	0.43648	4.321000	0.42998	-0.179000	0.10443	0.983000	0.35670	0.998000	0.33993	0.975000	0.56047	0.118:0.4538:0.4282:0.0	9.821	0.40053	576	0.70006	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2659.33	40	chr4	10445703	.	G	A	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.38;DP=1239;ExcessHet=0;FS=3.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.232;SOR=0.804	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1316	18	0	1	0
chr4	10598048	10598048	C	A	exonic	CLNK	.	nonsynonymous SNV	CLNK:NM_052964:exon3:c.G13T:p.G5C	.	.	.	.	.	.	.	.	0.0286	0.218	.	3656839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.0437774283063	.	.	2.817e-05	0	0	0	0	5.844e-05	0	0	6.5e-06	1	154602	rs755910013	2.043e-05	2.326e-05	9.772e-06	3.129e-05	5.088e-05	1.433e-05	1.239e-05	1.664e-05	1.413e-05	0	5.088e-05	0	0	0	0	2.392e-05	1.697e-05	0	1.316e-05	1.314e-05	1.286e-05	1.348e-05	6.552e-05	2.19e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.116042	0.19209	N	0.463226	1	0.81001	D	1.65	0.42232	L	0.57	0.54347	T	-1.63	0.39119	N	0.466	0.50237	-0.7528	0.57789	T	0.216	0.57836	T	10	0.23150986	0.40126	T	0.043777	0.61156	D	0.232	0.53354	0.161	0.06507	0.1749357433	0.17121	0.06224002180450513	0.06164	0.034062690304	0.03576	0.467596709728	0.34350	T	0.096049	0.39744	T	0.00222737	0.51960	T	-0.234577	0.51326	T	0.660529136657715	0.38919	D	0.509649	0.16214	T	0.28853247	0.51855	0.25042287	0.50633	0.28853247	0.51855	0.25042287	0.50632	-5.287	0.39814	T	.	.	0.242	0.47665	B	.;.	.;.	4.003474	0.59012	24.0	0.99720087859790441	0.81984	0.77777	0.38282	D	AEFBI	0.506833	0.53739	D	0.395877463714991	0.61198	4.317742	0.388696273958095	0.60866	4.279333	0.999973458396659	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	3.94	0.44807	2.083000	0.41239	2.159000	0.30968	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8289:0.0:0.1711	8.931	0.34833	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	33	chr4	10598048	.	C	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=711;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.429;SOR=0.46	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1160	18	0	1	0
chr4	13544329	13544329	G	C	exonic	NKX3-2	.	nonsynonymous SNV	NKX3-2:NM_001189:exon1:c.C86G:p.A29G	Spondylo-megaepiphyseal-metaphyseal dysplasia, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	734467	not_provided|NKX3-2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	.	0.00279553	0.0035	0	0.0026	0	0	0	0	0.0087	0.0008085	125	154602	rs577849807	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0080	0	0	0	0	0	0.0002	0	0.0007	0.0087	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	0	0	0	0	0	0	0	0	0	0.0095	0.13	0.26740	T	0.13	0.34716	T	0.039	0.21116	B	0.019	0.18783	B	0.226568	0.16015	N	0.581149	1	0.08975	N	1.1	0.28011	L	-2.99	0.92108	D	-0.24	0.10833	N	0.072	0.04547	-0.5476	0.66877	T	0.472	0.79695	T	10	0.004713297	0.00099	T	.	.	.	0.077	0.22490	0.213	0.13210	0.833357348621	0.83177	0.09593443808794916	0.09525	0.331067288021	0.35186	0.778569400311	0.78712	T	0.083744	0.37123	T	-0.384987	0.02896	T	-0.320234	0.42549	T	0.0120307067496799	0.00190	T	0.430157	0.11673	T	0.119747125	0.28191	0.13623896	0.32597	0.10218244	0.24143	0.12763008	0.30719	-3.476	0.16098	T	.	.	0.075	0.05447	B	.	.	1.410485	0.18257	13.64	0.96805438906131724	0.31165	0.38339	0.25966	N	AEFDBHCI	0.174427	0.30155	N	-0.773793800303906	0.13995	0.6936436	-0.705951296796284	0.16813	0.8911519	0.999968245007178	0.48965	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.27	2.47	0.29113	1.111000	0.30773	0.000000	0.13247	0.571000	0.28931	0.010000	0.18352	0.981000	0.30433	0.900000	0.43643	0.205:0.0:0.795:0.0	9.072	0.35661	748	0.52143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001597	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1144.33	36	chr4	13544329	.	G	C	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.213;DP=901;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.709;SOR=0.677	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.1053	5529.91	48	chr4	15003254	.	A	AGCC	5529.91	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.13;DP=768;ExcessHet=6.9875;FS=0.392;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:30,14:44:99:497,0,1177	15	0	4	0
chr4	15003723	15003723	-	GGCGGC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1050_1051insGGCGGC:p.P361_G682delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1050_1051insGGCGGC:p.G360_P361insGG,CPEB2:NM_001177383:exon1:c.1050_1051insGGCGGC:p.P361_G679delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1050_1051insGGCGGC:p.P361_G682delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1050_1051insGGCGGC:p.P361_G709delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1050_1051insGGCGGC:p.P361_G679delinsGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0005	0	0	0.0081	.	0.0005	0	0.0003	1.94e-05	3	154602	rs528354251	0.0007	0.0006	0.0007	0.0007	0.0046	0.0006	0.0006	0.0039	0.0036	0.0010	0.0014	0.0001	0.0046	0.0005	0.0005	0.0006	0.0006	0.0007	0.0008	0.0008	0.0008	0.0008	0.0030	0.0007	0.0007	0.0019	0.0015	0.0009	0	0.0016	0	0.0030	0.0005	0.0034	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1363.78	48	chr4	15003723	.	G	GGGCGGC	1363.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.579;DP=788;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=0.578;SOR=0.771	GT:AD:DP:GQ:PL	0/1:20,20:40:99:639,0,737	18	0	1	0
chr4	15003723	15003723	-	GGC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1050_1051insGGC:p.P361_G682delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1050_1051insGGC:p.G360_P361insG,CPEB2:NM_001177383:exon1:c.1050_1051insGGC:p.P361_G679delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1050_1051insGGC:p.P361_G682delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1050_1051insGGC:p.P361_G709delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1050_1051insGGC:p.P361_G679delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0047	0.0197	0	0.0403	.	0	0	0.0053	0.0002846	44	154602	rs528354251	0.0055	0.0048	0.0057	0.0053	0.0355	0.0054	0.0054	0.0336	0.0328	0.0089	0.0040	5.519e-05	0.0355	0.0002	0.0018	0.0048	0.0074	0.0063	0.0066	0.0067	0.0069	0.0064	0.0484	0.0063	0.0061	0.0434	0.0415	0.0086	0	0.0041	0	0.0484	0.0002	0	0.0042	0.0096	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1363.78	48	chr4	15003723	.	G	GGGC	1363.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.579;DP=788;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=0.578;SOR=0.771	GT:AD:DP:GQ:PL	0/0:20,0:40:99:639,701,1498	18	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177382:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177383:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_001177384:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_182485:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22,CPEB2:NM_182646:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	70.78	46	chr4	15004125	.	C	CGGGGGGGGGGG	70.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.39;DP=907;ExcessHet=0;FS=65.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-2.835;SOR=4.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:51,0:57:99:0|1:15004125_C_CGGGGGGGGGGGGG:0,154,2269:15004125	18	0	1	0
chr4	15510201	15510201	G	T	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon5:c.G354T:p.K118N,CC2D2A:NM_001378615:exon7:c.G501T:p.K167N,CC2D2A:NM_001080522:exon8:c.G501T:p.K167N	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	195923	not_provided|CC2D2A-related_disorder|Joubert_syndrome|Meckel-Gruber_syndrome|not_specified	MedGen:C3661900|MedGen:CN239313|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	.	.	0.00139776	0.0009	0	0	0.0125	0	0	0.0011	0	0.0007956	123	154602	rs190694237	0.0003	0.0003	0.0003	0.0003	0.0092	0.0002	0.0002	0.0084	0.0081	0	0	0	0.0092	0	0	4.498e-06	0.0003	9.306e-05	0.0004	0.0004	0.0003	0.0004	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	0	0	0.0110	0	0	0	0	0	0.007	0.61437	D	0.006	0.70582	D	0.982	0.60036	D	0.837	0.59984	P	0.000002	0.62929	D	0.057506	0.953426	0.37830	D	2.65	0.77586	M	1.87	0.24085	T	-2.22	0.61722	N	0.275	0.31140	-1.0237	0.22508	T	0.088	0.34133	T	10	0.007771224	0.00177	T	.	.	.	0.116	0.32463	0.361	0.36548	0.552861300566	0.54945	0.3420056652383258	0.34113	0.288172231167	0.31226	0.520102024078	0.41641	T	0.246445	0.61591	T	-0.508504	0.00512	T	-0.490883	0.23298	T	0.0908614156206934	0.11320	T	0.70423	0.31438	T	0.3368929	0.56031	0.24696079	0.50217	0.3368929	0.56031	0.24696079	0.50216	-3.92	0.22602	T	0.5437223398693306	0.61307	0.383	0.61197	A	.;.;.	.;.;.	2.686749	0.35059	19.80	0.9975007066947934	0.84152	0.91238	0.53132	D	AEFBI	0.142943	0.26552	N	0.266551058013345	0.54462	3.611699	0.180358414877625	0.48771	3.08867	0.895705655406555	0.25960	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	3.21	0.35933	0.892000	0.27957	2.211000	0.31368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.2984:0.0:0.7016:0.0	7.764	0.28137	639	0.64210	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	33	chr4	15510201	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	18	0	1	0
chr4	15707565	15707565	C	T	exonic	BST1	.	nonsynonymous SNV	BST1:NM_004334:exon3:c.C370T:p.R124C	.	426	1095	1	0	0	1	0.000456413	.	.	.	748785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.185	.	0.0002	0.00379393	0.0011	0.0002	8.637e-05	0.0121	0	4.495e-05	0	0.0012	0.0010479	162	154602	rs78449217	0.0005	0.0005	0.0004	0.0005	0.0085	0.0004	0.0004	0.0078	0.0075	5.974e-05	6.708e-05	0	0.0085	0	0	0.0001	0.0017	0.0011	0.0006	0.0006	0.0005	0.0007	0.0110	0.0005	0.0005	0.0087	0.0079	7.231e-05	0	0.0002	0	0.0110	0	0	0.0001	0.0019	0.0029	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.893	0.63340	P	0.000100	0.51296	D	0.179398	0.999591	0.20909	N	2.67	0.78151	M	2.29	0.17113	T	-5.32	0.86222	D	0.589	0.60918	-1.0561	0.12750	T	0.070	0.28412	T	10	0.007687807	0.00175	T	.	.	.	0.185	0.45933	.	.	0.295623431141	0.29171	0.4096348298986675	0.40879	0.761930771013	0.64304	0.355303823948	0.18701	T	0.298655	0.67121	T	-0.358798	0.04198	T	-0.277777	0.47030	T	0.0880196955693085	0.10981	T	0.872413	0.58632	D	0.55357164	0.70154	0.47671518	0.69681	0.55357164	0.70155	0.47671518	0.69681	-4.16	0.26170	T	.	.	0.257	0.56449	B	.;.	.;.	3.546677	0.49836	22.8	0.99880830426995759	0.95733	0.08290	0.14238	N	ALL	0.192850	0.31999	N	0.100854153002482	0.46501	2.889625	-0.0857863271747508	0.35977	2.08796	0.999999930865036	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.53	3.8	0.42887	2.244000	0.42775	3.938000	0.40583	0.599000	0.40250	0.052000	0.21487	0.237000	0.23824	0.174000	0.21107	0.1674:0.6716:0.161:0.0	9.032	0.35429	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1700.33	34	chr4	15707565	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.423;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.326;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1133	18	0	1	0
chr4	15824960	15824960	C	T	exonic	CD38	.	nonsynonymous SNV	CD38:NM_001775:exon3:c.C443T:p.T148M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0785249681242	0.0005	0.000998403	0.0005	9.741e-05	0	0.0002	0	0.0005	0.0011	0.0010	0.0004528	70	154602	rs138866692	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	8.964e-05	6.717e-05	0.0052	0.0001	0	0.0023	0.0002	0.0009	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	9.634e-05	0	6.538e-05	0.0043	0.0004	0	0.0068	0.0003	0	0.0010	0.052	0.39097	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	N	0.157752	0.991058	0.41297	D	2.545	0.74286	M	0.44	0.56609	T	-3.87	0.76015	D	0.382	0.42345	-0.5307	0.67515	T	0.307	0.67777	T	10	0.024703503	0.00689	T	0.078525	0.73024	D	0.308	0.62947	.	.	0.75392961054	0.75170	0.8964560050014194	0.89616	0.833824280555	0.67736	0.339563012123	0.16372	T	0.383506	0.74534	T	-0.32325	0.06635	T	-0.26173	0.48651	T	0.0903151085756348	0.11255	T	0.726827	0.37284	T	0.2631608	0.49380	0.33942622	0.59708	0.2631608	0.49380	0.33942622	0.59707	-4.271	0.27768	T	.	.	0.174	0.45569	B	.;.	.;.	3.276894	0.44877	22.0	0.99651921114788899	0.77380	0.43965	0.27214	N	AEFI	0.093587	0.18934	N	0.0342821537521535	0.43421	2.635314	-0.0474717785330979	0.37599	2.203709	0.506066862893366	0.20982	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.35	3.62	0.40616	1.538000	0.35700	1.601000	0.27583	-0.174000	0.10959	0.882000	0.31029	0.880000	0.27694	0.434000	0.27538	0.0:0.8238:0.0:0.1762	8.793	0.34025	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1139.33	38	chr4	15824960	.	C	T	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=706;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.46;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1202	18	0	1	0
chr4	17633765	17633765	G	T	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon17:c.C3013A:p.P1005T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00638978	0.0025	0.0251	0	0	0	0	0.0041	0	0.000718	111	154602	rs61741415	0.0006	0.0005	0.0006	0.0005	0.0198	0.0005	0.0005	0.0185	0.0180	0.0198	0.0015	3.971e-05	0	0	0.0012	6.488e-06	0.0015	2.525e-05	0.0060	0.0060	0.0063	0.0057	0.0207	0.0057	0.0055	0.0195	0.0191	0.0207	0	0.0024	0	0	0	0	8.82e-05	0.0052	0.0002	0.096	0.31088	T	0.741	0.04965	T	0.884	0.48618	P	0.54	0.48825	P	0.006431	0.32040	N	0.304356	0.502456	0.31714	N	1.745	0.45235	L	1.14	0.38397	T	-3.45	0.67589	D	0.143	0.14338	-0.9027	0.47705	T	0.055	0.23300	T	10	0.004603654	0.00096	T	.	.	.	0.049	0.13647	.	.	0.101711395817	0.09552	0.20801400943861192	0.20717	.	.	0.529324233532	0.42939	T	0.287868	0.66067	T	-0.522749	0.00424	T	-0.507413	0.21581	T	0.0435420173909338	0.04337	T	0.621638	0.23898	T	0.18518077	0.39869	0.17391366	0.39751	0.18518077	0.39869	0.17391366	0.39750	-4.16	0.26170	T	.	.	0.125	0.26451	B	.	.	2.384590	0.30617	18.49	0.98939030044196652	0.48902	0.68668	0.33889	D	AEFDBI	0.043719	0.06945	N	0.141755494703456	0.48421	3.054674	0.182828284367549	0.48905	3.100439	0.929723972875027	0.26979	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.43	4.59	0.56297	2.335000	0.43588	11.744000	0.95258	-0.105000	0.15698	0.993000	0.37899	1.000000	0.68203	0.951000	0.49849	0.0:0.0:0.6304:0.3696	12.222	0.53749	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001208	0.000000	0.000000	0.004348	0.000000	0.000000	0.000000	0.000000	0.02632	1163.33	33	chr4	17633765	.	G	T	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.659;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.35;SOR=0.787	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	18	0	1	0
chr4	20704813	20704813	C	T	exonic	PACRGL	.	nonsynonymous SNV	PACRGL:NM_001130727:exon3:c.C206T:p.P69L,PACRGL:NM_001258345:exon3:c.C206T:p.P69L,PACRGL:NM_001258346:exon3:c.C206T:p.P69L,PACRGL:NM_001317849:exon3:c.C206T:p.P69L,PACRGL:NM_001330745:exon3:c.C206T:p.P69L,PACRGL:NM_001330746:exon3:c.C206T:p.P69L,PACRGL:NM_001330747:exon3:c.C206T:p.P69L,PACRGL:NM_001330748:exon3:c.C206T:p.P69L,PACRGL:NM_145048:exon3:c.C206T:p.P69L	.	.	.	.	.	.	.	.	0.9900	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0137812461709	.	.	3.311e-05	0	8.655e-05	0.0001	0	3.01e-05	0	0	2.59e-05	4	154602	rs766516716	3.421e-05	3.42e-05	2.587e-05	4.264e-05	0.0002	2.632e-05	2.375e-05	6.513e-05	4.45e-05	0	0	0	0.0002	0	0	3.688e-05	1.656e-05	2.319e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.051	0.91255	T	0.0	0.92824	D	0.995	0.90584	D	0.853	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	.	.	.	-7.46	0.98804	D	0.801	0.96758	-0.4452	0.70559	T	0.420	0.76550	T	9	0.42961374	0.64080	T	0.013781	0.33440	T	0.436	0.74093	0.342	0.33464	0.124217242631	0.12060	0.5564353792968416	0.55570	0.341218850059	0.36058	0.569433271885	0.48598	T	0.124718	0.68563	T	0.0933778	0.63567	D	0.122056	0.78372	D	0.754737377166748	0.43551	D	0.952605	0.82399	D	0.43166006	0.62861	0.2956901	0.55601	0.43166006	0.62861	0.2956901	0.55600	-4.576	0.31869	T	.	.	0.621	0.84278	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.917816	0.94056	33	0.99873290919498181	0.95076	0.98877	0.88048	D	AEFBI	0.703473	0.65950	D	0.683025987120318	0.78520	6.88832	0.679406034240451	0.80818	7.384154	0.999999999291922	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.200000	0.72046	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.881	0.96894	716	0.55970	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	33	chr4	20704813	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.999;DP=764;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.619;SOR=0.595	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1530	18	0	1	0
chr4	20712899	20712899	A	C	exonic	PACRGL	.	nonsynonymous SNV	PACRGL:NM_001258346:exon4:c.A319C:p.I107L,PACRGL:NM_001317849:exon4:c.A319C:p.I107L,PACRGL:NM_001330745:exon4:c.A319C:p.I107L,PACRGL:NM_001330746:exon4:c.A319C:p.I107L,PACRGL:NM_001330747:exon4:c.A319C:p.I107L,PACRGL:NM_001330748:exon4:c.A319C:p.I107L,PACRGL:NM_001258345:exon6:c.A478C:p.I160L,PACRGL:NM_145048:exon6:c.A478C:p.I160L	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	7.7e-05	0.00638978	0.0027	0	0	0.0325	0.0003	0.0006	0.0011	0.0002	0.0024515	379	154602	rs76245024	0.0014	0.0014	0.0014	0.0014	0.0451	0.0014	0.0013	0.0434	0.0427	0	6.971e-05	0	0.0451	0.0003	0.0002	0.0002	0.0012	0.0002	0.0012	0.0012	0.0011	0.0014	0.0338	0.0011	0.0010	0.0297	0.0282	0	0	0.0001	0	0.0338	0.0002	0	2.94e-05	0.0009	0.0004	0.003	0.68238	D	0.048	0.51737	D	0.507	0.37264	P	0.338	0.42306	B	0.173230	0.17314	N	0.600262	1	0.81001	D	2.85	0.82803	M	3.68	0.67874	T	-1.34	0.34198	N	0.464	0.51137	-0.7747	0.56598	T	0.120	0.42015	T	10	0.0054970086	0.00121	T	.	.	.	0.095	0.27398	.	.	0.0806252709748	0.07271	0.45239145443413953	0.45157	0.127017458091	0.14312	0.353507250547	0.18437	T	0.170616	0.53932	T	-0.34106	0.05315	T	-0.214791	0.53236	T	0.108027340294904	0.13218	T	0.842916	0.52235	T	0.09614588	0.22641	0.11053737	0.26654	0.09614588	0.22641	0.11053737	0.26654	-5.215	0.46163	T	.	.	0.229	0.52945	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.897332	0.24095	16.27	0.9702644763828292	0.32047	0.79918	0.39699	D	AEFBI	0.324427	0.42632	N	-0.107188052808728	0.37079	2.152145	-0.0661613318646397	0.36799	2.146199	6.69839905457147E-5	0.04366	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.9	0.791	0.17762	1.561000	0.35950	0.678000	0.20656	0.756000	0.94297	1.000000	0.71638	0.360000	0.24516	0.996000	0.76049	0.5829:0.0:0.4171:0.0	10.013	0.41171	702	0.57624	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1352.33	41	chr4	20712899	.	A	C	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.658;DP=769;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.322;SOR=0.868	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1371	18	0	1	0
chr4	22388349	22388349	T	C	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon19:c.A3322G:p.N1108D	.	433	1088	1	0	0	1	0.000459348	.	.	.	829037	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0311239104786	.	.	4.95e-05	0	0	0	0	8.995e-05	0	0	5.17e-05	8	154602	rs750684538	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.546e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0005	3.327e-05	4.967e-05	1.159e-05	6.575e-06	6.567e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.684	0.04379	T	0.216	0.26226	T	0.988	0.62325	D	0.76	0.56425	P	0.000000	0.84330	D	0.042300	0.999998	0.58761	D	.	.	.	0.51	0.55439	T	-1.52	0.36980	N	0.644	0.65587	-0.7752	0.56570	T	0.229	0.59459	T	10	0.4488006	0.58567	T	0.031124	0.53284	D	0.135	0.36572	0.369	0.37850	0.151262610727	0.14761	0.2734018693848779	0.27253	0.543955468731	0.51462	0.677370548248	0.63892	T	0.218132	0.58077	T	-0.242328	0.15053	T	-0.394182	0.34062	T	0.401351660490036	0.28993	T	0.859214	0.55036	D	0.29010993	0.52003	0.33563578	0.59375	0.29010993	0.52003	0.33563578	0.59374	-3.431	0.15477	T	.	.	0.184	0.39848	B	.	.	4.442011	0.68981	25.3	0.99601053867176093	0.74219	0.98049	0.79168	D	AEBI	0.842193	0.75933	D	0.455100893863943	0.64494	4.705098	0.507011596369036	0.68460	5.223198	0.999998406160432	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.716000	0.68088	5.048000	0.46972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.125	0.81202	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1584.33	34	chr4	22388349	.	T	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=743;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.271;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1423	18	0	1	0
chr4	22392616	22392616	T	G	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon17:c.A2556C:p.K852N	.	437	1073	12	0	0	12	0.0055607	.	.	.	709310	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.292	.	0.0022	0.0171725	0.0100	0.0057	0.0007	0.0579	0.0235	0.0019	0.0154	0.0210	0.0089908	1390	154602	rs117922332	0.0048	0.0048	0.0044	0.0052	0.0703	0.0047	0.0047	0.0682	0.0673	0.0054	0.0004	0.0007	0.0703	0.0247	0.0017	0.0004	0.0076	0.0208	0.0069	0.0069	0.0056	0.0082	0.0602	0.0065	0.0064	0.0547	0.0526	0.0059	0	0.0020	0	0.0602	0.0265	0	0.0009	0.0090	0.0214	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	.	.	.	0.99	0.41750	T	-4.38	0.77143	D	0.71	0.71321	-0.9554	0.40024	T	0.031	0.13461	T	10	0.008710623	0.00197	T	.	.	.	0.292	0.61157	0.54	0.65161	.	.	0.8752106451859094	0.87488	0.555599250722	0.52254	0.749384880066	0.74356	T	0.370228	0.73481	T	-0.416612	0.01798	T	-0.318561	0.42732	T	0.0352867434680902	0.02857	T	0.967203	0.88094	D	0.76563585	0.81787	0.745038	0.84929	0.76563585	0.81789	0.745038	0.84930	-14.213	0.93727	D	.	.	0.979	0.90869	P	.	.	3.065698	0.41192	21.3	0.99842647453303335	0.92316	0.80164	0.39875	D	AEFBI	0.523475	0.54706	D	0.163291711420278	0.49442	3.14465	0.0407011105952484	0.41625	2.503879	0.0866646909757018	0.16014	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.18	-1.45	0.08365	-0.143000	0.10278	-0.364000	0.09654	0.665000	0.62972	0.728000	0.28902	0.316000	0.24298	0.995000	0.73285	0.0:0.6486:0.0:0.3514	12.112	0.53147	878	0.29785	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1334.33	34	chr4	22392616	.	T	G	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.634;DP=704;ExcessHet=0;FS=3.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=1.3;SOR=0.424	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1397	18	0	1	0
chr4	25256588	25256588	C	T	exonic	PI4K2B	.	nonsynonymous SNV	PI4K2B:NM_018323:exon4:c.C670T:p.R224C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0930875685575	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767555392	1.711e-05	1.71e-05	1.771e-05	1.651e-05	2.522e-05	1.175e-05	9.93e-06	1.093e-05	8.81e-06	0	0	0	2.522e-05	1.872e-05	0	1.71e-05	3.313e-05	2.32e-05	6.607e-06	6.577e-06	1.291e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	-1.04	0.76561	T	-7.57	0.95246	D	0.87	0.89353	0.698	0.93145	D	0.766	0.92040	D	10	0.88256377	0.87571	D	0.093088	0.76009	D	0.608	0.84613	0.679	0.81691	0.928852889575	0.92813	0.8557512646009803	0.85538	1.17749172799	0.79913	0.663878202438	0.61963	T	0.287571	0.66037	T	0.403217	0.90100	D	0.341417	0.89975	D	0.99896252155304	0.95727	D	0.976002	0.91601	D	0.90420645	0.91761	0.8627055	0.92364	0.90420645	0.91763	0.8627055	0.92364	-10.709	0.78038	D	.	.	0.406	0.68545	A	.;.	.;.	5.585281	0.92335	32	0.99938779684388324	0.99734	0.95219	0.63879	D	AEFBI	0.643378	0.62001	D	0.954676401284307	0.94169	12.553	0.886106993295576	0.94939	13.16984	0.999773483282119	0.42865	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	4.047000	0.57095	7.615000	0.62066	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.659	0.99629	659	0.61982	.;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1192.33	34	chr4	25256588	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.397;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1382	18	0	1	0
chr4	25312867	25312867	C	T	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon1:c.C58T:p.R20W,ZCCHC4:NM_024936:exon1:c.C58T:p.R20W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0101853819994	8e-05	.	8.288e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs372768133	2.054e-06	2.052e-06	4.087e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.61642	D	0.83	0.46087	P	0.165	0.35019	B	0.030526	0.01721	N	2.164230	1	0.08975	N	0.345	0.11182	N	1.42	0.33189	T	-0.35	0.12847	N	0.278	0.31478	-1.0329	0.19522	T	0.041	0.17530	T	10	0.08248097	0.13617	T	0.010185	0.26412	T	0.023	0.04649	.	.	0.0611884634855	0.05136	0.2890698638455068	0.28819	0.0917860839018	0.10363	0.360000371933	0.19386	T	0.008516	0.07817	T	-0.3647	0.03871	T	-0.592515	0.13448	T	0.224534541368484	0.21687	T	0.79582	0.43907	T	0.06688657	0.14435	0.055808604	0.09857	0.06688657	0.14435	0.055808604	0.09857	-5.357	0.40504	T	.	.	0.087	0.11317	B	.	.	1.760942	0.22396	15.60	0.99148545832267876	0.53737	0.00003	0.00079	N	ALL	0.086251	0.17487	N	-0.845317150580504	0.12164	0.5913347	-0.956120224458499	0.10781	0.5452288	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.71	-1.13	0.09274	-0.644000	0.05512	-0.313000	0.10024	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2303:0.4541:0.103:0.2126	2.331	0.03976	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	988.33	33	chr4	25312867	.	C	T	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=716;ExcessHet=0;FS=8.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.313;SOR=1.41	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	18	0	1	0
chr4	25312873	25312873	A	G	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon1:c.A64G:p.S22G,ZCCHC4:NM_024936:exon1:c.A64G:p.S22G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0004	0.00938498	0.0117	0.0016	0.1146	0.0055	0	0.0002	0.0056	0.0001	0.0109054	1686	154602	rs141777783	0.0033	0.0033	0.0039	0.0027	0.0986	0.0032	0.0032	0.0961	0.0951	0.0008	0.0986	0	0.0027	0	0	5.845e-05	0.0028	0.0002	0.0072	0.0072	0.0061	0.0083	0.0629	0.0068	0.0067	0.0596	0.0583	0.0021	0	0.0629	0	0.0031	0	0	0.0001	0.0071	0.0006	0.304	0.14303	T	0.632	0.07150	T	0.0	0.02946	B	0.0	0.01387	B	0.347202	0.04223	N	1.331650	1	0.08975	N	0.805	0.20218	L	1.51	0.30937	T	-0.79	0.21860	N	0.061	0.03283	-1.0369	0.18264	T	0.006	0.01870	T	10	0.0016601384	0.00020	T	.	.	.	0.030	0.07022	.	.	.	.	0.15655851162439183	0.15576	0.0740461901194	0.08305	0.414639174938	0.27098	T	0.005342	0.04790	T	-0.699134	0.00037	T	-0.690181	0.06379	T	0.00432550444293377	0.00046	T	0.39826	0.10085	T	0.06555107	0.14020	0.06300369	0.12413	0.06555107	0.14019	0.06300369	0.12413	-2.536	0.06032	T	.	.	0.053	0.00269	B	.	.	0.044465	0.04597	1.270	0.83997947884359725	0.15038	0.00002	0.00064	N	ALL	0.028669	0.02568	N	-1.44870712384776	0.02227	0.0981099	-1.49899950550599	0.02353	0.1080852	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.71	-5.12	0.02674	-0.698000	0.05194	0.809000	0.21733	-0.138000	0.12486	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1991:0.0:0.5353:0.2655	7.587	0.27165	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1069.33	33	chr4	25312873	.	A	G	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.729;DP=713;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=2.32;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	18	0	1	0
chr4	25333958	25333958	T	C	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon5:c.T656C:p.I219T,ZCCHC4:NM_024936:exon5:c.T656C:p.I219T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0004	0.00978435	0.0127	0.0021	0.1232	0.0056	0	0.0003	0.0057	0.0001	0.0116234	1797	154602	rs151252286	0.0030	0.0034	0.0036	0.0025	0.0972	0.0030	0.0029	0.0947	0.0936	0.0009	0.0972	0	0.0027	0	0	6.756e-05	0.0028	0.0001	0.0075	0.0075	0.0065	0.0085	0.0649	0.0071	0.0070	0.0615	0.0602	0.0024	0	0.0649	0	0.0031	0	0	0.0002	0.0071	0.0006	0.032	0.44694	D	0.007	0.69154	D	0.024	0.19075	B	0.038	0.23361	B	0.016768	0.27892	N	0.435914	0.99164	0.41438	D	2.08	0.57402	M	1.05	0.39990	T	-2.93	0.61284	D	0.092	0.07125	-1.0568	0.12569	T	0.020	0.08360	T	10	0.0024021566	0.00036	T	.	.	.	0.105	0.29889	.	.	.	.	0.5624506910897248	0.56172	0.400484656327	0.41048	0.47166287899	0.34908	T	0.033103	0.22771	T	-0.464255	0.00924	T	-0.352794	0.38884	T	0.033478011293259	0.02551	T	0.706229	0.31676	T	0.26921958	0.49994	0.16964582	0.39015	0.26921958	0.49994	0.16964582	0.39014	-5.563	0.42453	T	.	.	0.147	0.32372	B	.	.	2.495695	0.32208	18.97	0.99347966915129704	0.60452	0.98194	0.80421	D	AEFBI	0.346302	0.44116	N	0.106775866177766	0.46780	2.91307	0.242690177876915	0.52235	3.399677	0.99991801457672	0.45857	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	4.968000	0.63441	2.253000	0.31702	0.665000	0.62972	1.000000	0.71638	0.204000	0.23592	0.934000	0.47231	0.0:0.0:0.0:1.0	15.756	0.77790	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1162.33	35	chr4	25333958	.	T	C	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.95;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr4	25415491	25415491	A	G	exonic	ANAPC4	.	nonsynonymous SNV	ANAPC4:NM_001286756:exon26:c.A1855G:p.I619V,ANAPC4:NM_013367:exon26:c.A1852G:p.I618V	.	425	1095	2	0	0	2	0.000912409	.	.	.	4157008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00404674785834	.	.	3.398e-05	0	0	0	0	4.654e-05	0	6.258e-05	4.53e-05	7	154602	rs575771639	3.422e-05	3.42e-05	3.95e-05	2.889e-05	0.0002	2.633e-05	2.376e-05	2.712e-05	2.388e-05	2.991e-05	2.24e-05	0	0	0	0.0002	3.599e-05	3.314e-05	5.802e-05	5.261e-05	5.255e-05	3.857e-05	6.73e-05	0.0002	2.559e-05	1.831e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0.0005	0.0002	0.624	0.05468	T	0.789	0.04207	T	0.0	0.02946	B	0.0	0.01387	B	0.099436	0.19934	N	0.562357	0.999948	0.19238	N	0.345	0.11182	N	1.61	0.28391	T	-0.48	0.15379	N	0.021	0.00407	-0.9896	0.32702	T	0.019	0.08079	T	10	0.040190995	0.02567	T	0.004047	0.09650	T	0.087	0.25287	0.354	0.35408	0.31411915649	0.31020	0.15699666462791093	0.15620	0.423830427067	0.42828	0.34165930748	0.16686	T	0.024864	0.18706	T	-0.483377	0.00707	T	-0.740431	0.03872	T	0.0120730320622462	0.00191	T	0.765223	0.39255	T	0.044130027	0.07000	0.045712374	0.06211	0.044130027	0.07000	0.045712374	0.06210	-2.774	0.07946	T	.	.	0.063	0.01449	B	.;.	.;.	-0.912954	0.00905	0.033	0.44291915516854591	0.03395	0.01250	0.04399	N	AEFBI	0.019120	0.00636	N	-1.48654709936383	0.01944	0.08536824	-1.46510024467648	0.02636	0.1215976	0.999976969088763	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.08	-10.2	0.00305	-0.847000	0.04439	-1.441000	0.05432	0.691000	0.84096	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.2051:0.0875:0.7074:0.0	18.625	0.91291	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2070.33	34	chr4	25415491	.	A	G	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=814;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.16;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	18	0	1	0
chr4	25862787	25862789	TGC	-	exonic	SEL1L3	.	nonframeshift deletion	SEL1L3:NM_015187:exon1:c.48_50del:p.Q17del	.	477	1035	9	0	1	10	0.004329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370347220	1.832e-05	0.0004	1.097e-05	2.651e-05	2.015e-05	1.171e-05	9.44e-06	1.259e-05	1.039e-05	0	0	0	0	0	0	2.015e-05	2.485e-05	0	6.712e-06	1.979e-05	1.309e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	40.57	20	chr4	25862786	.	TTGC	T	40.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.897;DP=192;ExcessHet=0;FS=0;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=0.646;SOR=0.693	GT:AD:DP:GQ:PL	0/0:11,0:11:27:0,27,405	18	0	1	0
chr4	26481792	26481792	C	T	exonic	CCKAR	.	nonsynonymous SNV	CCKAR:NM_000730:exon5:c.G1133A:p.R378H	.	315	1205	2	0	0	2	0.000829187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.117258391812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.865	0.83145	M	0.34	0.58176	T	-4.6	0.78976	D	0.945	0.95256	-0.2872	0.75343	T	0.346	0.71060	T	10	0.973677	0.97053	D	0.117258	0.79698	D	0.635	0.86027	0.848	0.95084	0.711180351677	0.70865	0.9348165022051695	0.93461	0.813825509068	0.66852	0.719319283962	0.69947	T	0.747933	0.93070	D	0.200139	0.73904	D	0.049709	0.73564	D	0.999215364456177	0.96570	D	0.946705	0.79569	D	0.7401936	0.80303	0.54057866	0.73448	0.7401936	0.80305	0.54057866	0.73449	-9.421	0.70367	D	.	.	0.708	0.73293	P	.	.	5.599562	0.92448	32	0.99948980619868766	0.99931	0.97744	0.76819	D	AEFDBI	0.910433	0.86834	D	0.737300940057996	0.82075	7.674065	0.686699940710809	0.81367	7.51033	0.99999999999205	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.41	4.57	0.55860	7.834000	0.84963	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9273:0.0:0.0727	14.102	0.64590	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1578.33	59	chr4	26481792	.	C	T	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=870;ExcessHet=0;FS=15.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.112;SOR=1.702	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr4	26673793	26673793	A	G	exonic	TBC1D19	.	nonsynonymous SNV	TBC1D19:NM_001292054:exon8:c.A526G:p.S176G,TBC1D19:NM_018317:exon11:c.A721G:p.S241G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0077	0.00798722	0.0021	0.0246	0.0003	0	0	3.173e-05	0.0012	6.595e-05	0.0019469	301	154602	rs16878555	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0220	0.0215	0.0234	0.0007	0	0	0	0.0005	1.535e-05	0.0012	6.97e-05	0.0064	0.0065	0.0067	0.0062	0.0226	0.0061	0.0060	0.0214	0.0209	0.0226	0	0.0019	0	0	0	0	2.942e-05	0.0047	0.0002	0.118	0.34982	T	0.211	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.039134	0.999995	0.58761	D	2.045	0.56016	M	0.91	0.46028	T	-0.72	0.22944	N	0.184	0.19995	-1.0974	0.04420	T	0.029	0.12497	T	10	0.0053832233	0.00118	T	.	.	.	0.090	0.26093	.	.	0.553913597673	0.55050	0.47403113405047187	0.47322	0.269854934135	0.29508	0.493964850903	0.37989	T	0.03936	0.25161	T	-0.51212	0.00488	T	-0.489477	0.23448	T	0.0120411407257514	0.00190	T	0.835616	0.50622	T	0.21552318	0.43987	0.17673543	0.40228	0.21552318	0.43987	0.17673543	0.40227	-4.639	0.32658	T	.	.	0.219	0.54761	B	.;.;.;.	.;.;.;.	2.884514	0.38179	20.7	0.99223959344419965	0.55994	0.97786	0.77123	D	AEFBI	0.488156	0.52660	N	0.00515367208645484	0.42089	2.529473	0.172264828668429	0.48332	3.050654	0.990472750754274	0.32165	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	5.144000	0.64675	7.978000	0.76064	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.189	0.72714	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.05263	2094.83	34	chr4	26673793	.	A	G	2094.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.32;DP=746;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.244;SOR=0.73	GT:AD:DP:GQ:PL	0/1:29,46:75:99:1201,0,611	17	0	2	0
chr4	30722771	30722771	G	A	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.G1349A:p.R450Q,PCDH7:NM_002589:exon1:c.G1349A:p.R450Q,PCDH7:NM_032456:exon1:c.G1349A:p.R450Q,PCDH7:NM_032457:exon1:c.G1349A:p.R450Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0174301157975	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs745880446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.026	0.55759	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.994151	0.42180	D	1.575	0.39704	L	0.64	0.52867	T	-2.39	0.54546	N	0.564	0.60664	-0.5946	0.65036	T	0.260	0.63099	T	9	0.5881454	0.66228	D	0.01743	0.39125	T	0.284	0.60219	0.483	0.56462	0.581788271231	0.57850	0.6674010942959742	0.66678	.	.	0.770366609097	0.77480	T	0.064372	0.32416	T	0.00933874	0.52935	T	-0.224362	0.52315	T	0.920169174671173	0.57921	D	0.972203	0.89922	D	0.31691182	0.54378	0.2786529	0.53827	0.31691182	0.54378	0.2786529	0.53826	-6.725	0.51999	T	.	.	0.196	0.41738	B	.;.	.;.	4.919259	0.81005	27.4	0.99914431487748112	0.98309	0.92590	0.56070	D	AEFDGBCI	0.876994	0.80134	D	0.772639158315068	0.84368	8.268638	0.782213220073283	0.88531	9.616945	0.999999999998238	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	6.775000	0.74812	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.349	0.94365	488	0.76887	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2933.33	40	chr4	30722771	.	G	A	2933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=877;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.656;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	18	0	1	0
chr4	36214464	36214464	T	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon3:c.A922G:p.R308G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00921965881357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.16e-06	6.156e-06	2.759e-06	5.576e-06	4.544e-06	1.5e-06	9.8e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.544e-06	1.684e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.3	0.20357	T	0.682	0.41464	P	0.156	0.34472	B	0.000159	0.49130	D	0.089004	0.881018	0.28049	N	2.42	0.70002	M	2.8	0.11082	T	-1.48	0.36189	N	0.676	0.68342	-1.0516	0.13954	T	0.031	0.13286	T	10	0.29129857	0.46709	T	0.00922	0.24225	T	0.086	0.25016	0.24	0.17218	0.21737058555	0.21362	0.5872992145304905	0.58659	0.0713654470138	0.07990	0.435998290777	0.30030	T	0.027265	0.20004	T	-0.0763869	0.40302	T	-0.347501	0.39490	T	0.947931528091431	0.62787	D	0.784022	0.42156	T	0.189928	0.40556	0.1588956	0.37084	0.189928	0.40556	0.1588956	0.37084	-3.492	0.16320	T	.	.	0.258	0.49304	B	.	.	4.067161	0.60402	24.2	0.99550342579213968	0.71086	0.84931	0.44027	D	AEFBI	0.376767	0.46079	N	0.28788267564239	0.55532	3.717409	0.363516124453146	0.59327	4.109499	0.999992811329736	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	3.710000	0.54589	6.070000	0.53248	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	11.710	0.50883	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1799.33	34	chr4	36214464	.	T	C	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.128;DP=763;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.214;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1989.33	33	chr4	36229221	.	G	A	1989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.638;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	18	0	1	0
chr4	36229459	36229459	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.G28A:p.D10N	.	441	1056	21	4	0	29	0.0135451	.	.	.	2822473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.345	0.0190945144254	0.0014	0.00219649	0.0021	0.0001	0.0007	0	0	0.0023	0.0023	0.0057	0.0018176	281	154602	rs147255071	0.0016	0.0016	0.0014	0.0018	0.0156	0.0016	0.0016	0.0130	0.0121	0.0003	0.0008	0.0020	5.046e-05	9.38e-05	0.0156	0.0014	0.0026	0.0051	0.0016	0.0016	0.0017	0.0014	0.0081	0.0014	0.0013	0.0061	0.0054	0.0002	0	0.0018	0.0014	0	0	0.0102	0.0022	0.0028	0.0081	0.01	0.61437	D	0.041	0.58089	D	0.896	0.49324	P	0.721	0.54900	P	0.046460	0.23438	N	0.439072	0.998027	0.22390	N	2.415	0.69758	M	-0.05	0.63403	T	-1.54	0.71157	N	0.177	0.19055	-0.5071	0.68392	T	0.356	0.71897	T	10	0.009949297	0.00223	T	0.019095	0.41369	T	0.345	0.66676	.	.	0.645408611234	0.64247	0.5151473116475712	0.51437	0.0827273509579	0.09334	0.630742430687	0.57251	T	0.016557	0.13660	T	-0.525967	0.00406	T	-0.527201	0.19567	T	0.0417767271637241	0.04013	T	0.864914	0.56300	D	0.12813233	0.29965	0.093509234	0.22089	0.12813233	0.29965	0.093509234	0.22089	-5.079	0.37685	T	.	.	0.086	0.16800	B	.;.	.;.	3.387903	0.46888	22.4	0.99904591426530143	0.97576	0.81189	0.40646	D	AEFBI	0.173637	0.30072	N	0.584390645449768	0.72200	5.768433	0.571800366175148	0.72925	5.888	0.999998576847307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.913000	0.48487	6.004000	0.52535	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.9259:0.0:0.0741	12.906	0.57547	726	0.54788	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.006793	0.011696	0.000000	0.000000	0.021341	0.000000	0.02632	1069.33	33	chr4	36229459	.	C	T	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=699;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.207;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	18	0	1	0
chr4	36281955	36281955	C	T	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon1:c.C197T:p.S66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.644e-07	1.368e-06	1.499e-06	0	9.689e-07	0	0	.	.	0	0	0	0	0	0	9.689e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998829	0.21877	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13528085	0.25743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457954	0.13172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33412	B	.	.	2.229312	0.28453	17.80	0.75885232088475441	0.11249	0.08174	0.14135	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999969990169048	0.48965	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.722056	0.43501	5.54	3.71	0.41733	0.710000	0.25421	1.363000	0.25896	0.599000	0.40250	0.015000	0.19116	0.011000	0.20116	0.003000	0.05239	0.0:0.7823:0.1414:0.0763	9.871	0.40343	686	0.59327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	431.33	33	chr4	36281955	.	C	T	431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=663;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=2.17;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	0	1	0
chr4	36284092	36284092	T	A	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon2:c.T388A:p.C130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00427034204522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.09486	T	0.747	0.04860	T	.	.	.	.	.	.	.	.	.	.	0.999653	0.48079	D	0.92	0.23413	L	2.28	0.17271	T	0.16	0.05217	N	0.149	0.15187	-0.9625	0.38704	T	0.016	0.06521	T	7	0.048432767	0.04292	T	0.00427	0.10341	T	0.006	0.00375	0.31	0.28289	0.0138822411134	0.00435	0.5310099045962012	0.53024	.	.	0.317479729652	0.13039	T	0.001001	0.00540	T	-0.291604	0.09475	T	-0.656645	0.08494	T	0.0275753923912401	0.01626	T	0.524848	0.17228	T	0.042683173	0.06517	0.078150876	0.17479	0.042683173	0.06516	0.078150876	0.17478	-1.772	0.02427	T	.	.	0.156	0.34580	B	.;.;.	.;.;.	0.660686	0.10293	7.024	0.62322575388247636	0.06933	0.10266	0.15820	N	AEFDIJ	0.041724	0.06380	N	-0.630399732497781	0.18036	0.9331414	-0.58056758653921	0.20000	1.075598	0.990158767214886	0.32057	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	1.75	0.23707	0.407000	0.20770	0.574000	0.19636	-0.169000	0.11342	0.112000	0.23030	0.236000	0.23818	0.411000	0.27028	0.3908:0.1186:0.0:0.4906	2.847	0.05206	683	0.59664	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	759.33	33	chr4	36284092	.	T	A	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=721;ExcessHet=0;FS=3.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=1.29;SOR=1.044	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr4	36290484	36290484	T	-	exonic	DTHD1	.	stopgain	DTHD1:NM_001136536:exon2:c.129delT:p.L44*,DTHD1:NM_001378435:exon2:c.129delT:p.L44*,DTHD1:NM_001170700:exon3:c.999delT:p.L334*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4066.29	44	chr4	36290483	.	CT	C	4066.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=1047;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.62;SOR=0.846	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr4	37444246	37444246	G	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.G2258A:p.R753H	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00939842348465	0.0020	.	0.0014	0	0	0	0.0037	0.0026	0	0.0003	0.000414	64	154602	rs78086173	0.0019	0.0018	0.0019	0.0018	0.0020	0.0018	0.0018	0.0020	0.0019	0.0002	0.0003	0.0023	5.596e-05	0.0051	0.0007	0.0020	0.0013	0.0003	0.0017	0.0017	0.0016	0.0018	0.0022	0.0016	0.0015	0.0019	0.0018	0.0003	0.0263	6.533e-05	0.0026	0	0.0059	0	0.0022	0.0014	0	0.3	0.14497	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.001133	0.40136	N	0.288637	0.707725	0.33486	D	0.48	0.13178	N	-1.58	0.81987	D	-1.69	0.40274	N	0.043	0.01577	-0.5997	0.64830	T	0.325	0.69367	T	10	0.005783856	0.00129	T	0.009398	0.24646	T	0.178	0.44724	.	.	0.124217242631	0.12060	0.2809560254238635	0.28008	.	.	0.239765867591	0.02769	T	0.024912	0.18734	T	-0.481446	0.00725	T	-0.470198	0.25495	T	0.0225775923101079	0.00973	T	0.814619	0.46840	T	0.06964281	0.15274	0.055801604	0.09854	0.06964281	0.15274	0.055801604	0.09853	-5.209	0.39033	T	.	.	0.068	0.02894	B	.	.	1.809783	0.23000	15.85	0.95759108006672544	0.27744	0.76415	0.37475	D	AEFBI	0.188308	0.31558	N	-0.305117651201788	0.28953	1.60136	-0.127956586802306	0.34268	1.969272	0.0603557046858009	0.15194	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	6.05	3.29	0.36801	2.802000	0.47612	3.442000	0.38388	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.4121:0.0:0.5879:0.0	9.508	0.38227	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1077.33	147	chr4	37444246	.	G	A	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=1191;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.356;SOR=1.012	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	18	0	1	0
chr4	37444695	37444695	G	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.G2707A:p.V903I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0130458586865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311275891	2.143e-06	2.052e-06	1.41e-06	2.897e-06	2.78e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.78e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.274	0.15823	T	0.508	0.10893	T	0.0	0.02946	B	0.001	0.04355	B	0.000095	0.51296	N	0.130387	0.998921	0.45696	D	1.2	0.30300	L	-1.4	0.80474	T	0.67	0.02263	N	0.083	0.05929	-0.6766	0.61529	T	0.288	0.65958	T	10	0.09633419	0.17271	T	0.013046	0.32145	T	0.199	0.48268	0.365	0.37199	0.110078149338	0.10416	0.24872569044042053	0.24786	.	.	0.431904315948	0.29468	T	0.001861	0.01280	T	-0.151952	0.28005	T	-0.456045	0.27030	T	0.516601383686066	0.33240	D	0.835616	0.50622	T	0.046789527	0.07891	0.07834608	0.17538	0.046789527	0.07891	0.07834608	0.17538	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	1.836139	0.23329	15.97	0.95572237084934275	0.27265	0.94538	0.61490	D	AEFBI	0.418969	0.48639	N	-0.190638691232296	0.33523	1.902847	0.00145308581159631	0.39782	2.364112	0.0111658389362755	0.12141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	3.8	0.42887	3.965000	0.56495	3.884000	0.40256	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2187:0.0:0.7813:0.0	11.025	0.46955	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002463	0.000000	0.000000	0.000000	0.000000	0.000000	0.011628	0.000000	0.02632	2273.33	182	chr4	37444695	.	G	A	2273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.92;DP=1112;ExcessHet=0;FS=2.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.33;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	18	0	1	0
chr4	37445685	37445685	C	T	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.C3697T:p.R1233C	.	430	1091	0	1	0	2	0.000915751	.	.	.	3459091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.224	0.0114120784389	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	2.59e-05	4	154602	rs750433863	4.644e-05	4.446e-05	3.101e-05	6.229e-05	0.0002	3.733e-05	3.402e-05	0.0001	0.0001	0.0002	0	0	2.798e-05	0	0.0002	3.429e-05	5.163e-05	0.0002	9.2e-05	9.194e-05	0.0001	6.727e-05	0.0002	5.528e-05	4.365e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	8.818e-05	0	0.0002	0.016	0.51853	D	0.004	0.74150	D	0.999	0.77913	D	0.642	0.52168	P	0.000102	0.50451	D	0.132372	0.999998	0.58761	D	2.3	0.65703	M	1.48	0.31731	T	-0.27	0.11366	N	0.516	0.54671	-1.1331	0.01640	T	0.086	0.33298	T	10	0.29229435	0.46806	T	0.011412	0.29007	T	0.224	0.52174	.	.	0.314417295294	0.31040	0.6419699046160314	0.64131	.	.	0.537240028381	0.44056	T	0.015449	0.12960	T	-0.283698	0.10280	T	-0.319348	0.42647	T	0.27316552400589	0.23882	T	0.986501	0.95398	D	0.120171376	0.28282	0.08049118	0.18210	0.120171376	0.28281	0.08049118	0.18210	-4.814	0.34754	T	.	.	0.159	0.35098	B	.	.	3.911445	0.57044	23.8	0.99861027800316349	0.93911	0.95102	0.63445	D	AEFBI	0.701166	0.65795	D	0.498231127742385	0.66986	5.021822	0.596568085450408	0.74690	6.180636	0.999999979013963	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.15	6.15	0.99186	4.516000	0.60214	6.035000	0.52961	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	20.839	0.99727	882	0.29131	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2333.33	42	chr4	37445685	.	C	T	2333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=983;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.319;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	18	0	1	0
chr4	37447091	37447091	C	A	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.C5103A:p.S1701R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.328103962924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252409524	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	0.805	0.20218	L	-1.81	0.83970	D	-0.77	0.21429	N	0.626	0.64052	0.018	0.82615	D	0.567	0.84290	D	10	0.42785937	0.57294	T	0.328104	0.91671	D	0.498	0.78226	0.242	0.17524	0.218112801441	0.21410	0.79861766631478	0.79814	.	.	0.682475864887	0.64624	T	0.02531	0.18949	T	0.169255	0.71056	D	0.00534709	0.70682	D	0.70616809300349	0.41014	D	0.89741	0.64114	D	0.4983242	0.66997	0.35435712	0.60981	0.4983242	0.66998	0.35435712	0.60981	-4.099	0.25275	T	.	.	0.963	0.88401	P	.	.	2.928992	0.38908	20.8	0.99725776412609679	0.82406	0.85098	0.44203	D	AEFBI	0.322229	0.42479	N	0.012286069929422	0.42413	2.555031	-0.0269840368582314	0.38501	2.269179	0.28609214623292	0.19038	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	-0.779	0.10419	0.322000	0.19323	-1.084000	0.06380	-0.176000	0.10722	0.995000	0.38783	0.001000	0.17328	0.992000	0.67800	0.0:0.4003:0.0:0.5997	11.672	0.50668	869	0.31655	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2371.33	42	chr4	37447091	.	C	A	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=914;ExcessHet=0;FS=1.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.369;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	18	0	1	0
chr4	37590701	37590701	T	A	exonic	C4orf19	.	nonsynonymous SNV	C4orf19:NM_018302:exon3:c.T646A:p.S216T,C4orf19:NM_001104629:exon4:c.T646A:p.S216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00733286473789	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.066e-05	1.29e-05	2	154602	rs757190120	4.105e-06	4.104e-06	4.084e-06	4.126e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.489	0.11586	T	0.005	0.12996	B	0.006	0.12133	B	0.066977	0.21774	N	0.400455	1	0.08975	N	1.5	0.37844	L	1.42	0.33189	T	-0.28	0.11547	N	0.036	0.01068	-1.0344	0.19046	T	0.038	0.16333	T	10	0.039312273	0.02412	T	0.007333	0.19442	T	0.005	0.00259	0.213	0.13210	0.134241683229	0.13084	0.05343745263624834	0.05285	0.111018026078	0.12528	.	.	.	0.005377	0.04831	T	-0.430021	0.01482	T	-0.758618	0.03162	T	0.0367877731701572	0.03118	T	0.321068	0.06505	T	0.033453844	0.03567	0.042563867	0.05096	0.033453844	0.03567	0.042563867	0.05096	-3.649	0.18568	T	.	.	0.075	0.05800	B	.;.	.;.	0.770036	0.11402	8.011	0.74260697572597145	0.10629	0.01648	0.05296	N	AEFBI	0.038822	0.05549	N	-1.16816846180801	0.05487	0.2502902	-1.15134956210134	0.06744	0.325646	0.8653599276701	0.25308	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.15	2.4	0.28568	-0.509000	0.06419	-0.257000	0.10458	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3661:0.4129:0.1362:0.0849	3.363	0.06775	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1939.33	34	chr4	37590701	.	T	A	1939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=862;ExcessHet=0;FS=6.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.921;SOR=1.003	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr4	37829982	37829982	G	A	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon2:c.G100A:p.A34T	.	445	1076	1	0	0	1	0.000464468	.	.	.	720961	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0042	0.00778754	0.0015	0.0161	0.0007	0	0	1.507e-05	0	6.355e-05	0.0014683	227	154602	rs114326618	0.0005	0.0005	0.0005	0.0004	0.0166	0.0004	0.0004	0.0154	0.0150	0.0166	0.0008	0	0	0	0.0002	5.423e-06	0.0010	6.001e-05	0.0045	0.0045	0.0042	0.0048	0.0157	0.0042	0.0041	0.0147	0.0143	0.0157	0	0.0016	0	0	0	0	4.413e-05	0.0024	0.0004	0.035	0.43708	D	0.065	0.44702	T	0.001	0.07471	B	0.002	0.06944	B	0.486343	0.12107	N	0.789478	1	0.08975	N	0	0.06538	N	0.75	0.50192	T	-0.22	0.10480	N	0.089	0.06720	-1.0433	0.16324	T	0.019	0.08126	T	10	0.0039089024	0.00074	T	.	.	.	0.065	0.18881	.	.	0.295623431141	0.29171	0.24834405376233887	0.24748	0.0514137841214	0.05660	0.322352617979	0.13777	T	0.335996	0.70555	T	-0.664721	0.00059	T	-0.713322	0.05125	T	0.00234674451008294	0.00024	T	0.506749	0.18358	T	0.030616408	0.02756	0.04399897	0.05603	0.030616408	0.02755	0.04399897	0.05602	-3.295	0.13673	T	.	.	0.067	0.02578	B	.;.	.;.	0.383857	0.07557	4.210	0.73165378658890301	0.10230	0.04300	0.09847	N	AEFBCI	0.028164	0.02433	N	-1.66228354392622	0.00984	0.04266662	-1.72323931121705	0.01038	0.04658992	0.999999831887088	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	-8.49	0.00812	-0.051000	0.11840	-0.389000	0.09488	-1.260000	0.01293	0.007000	0.17678	0.000000	0.08366	0.726000	0.34967	0.6934:0.0707:0.0881:0.1478	6.751	0.22674	832	0.38914	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	565.33	33	chr4	37829982	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.829;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr4	37830034	37830034	T	C	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon2:c.T152C:p.F51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0954104445146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.84e-07	1.368e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.693	0.41684	P	0.739	0.55653	P	0.000000	0.84330	D	0.048588	0.999999	0.81001	D	2.915	0.84231	M	-0.08	0.63911	T	-3.46	0.67705	D	0.907	0.91162	-0.1089	0.79893	T	0.425	0.76910	T	10	0.9392574	0.93253	D	0.09541	0.76423	D	0.574	0.82742	0.779	0.90388	0.881842698523	0.88068	0.9657782908069559	0.96564	0.205710676034	0.22994	0.588236451149	0.51246	T	0.91551	0.98444	D	0.288801	0.82056	D	0.177066	0.81826	D	0.988748908042908	0.79039	D	0.855414	0.61533	D	0.6700662	0.76437	0.71397454	0.83121	0.6700662	0.76438	0.71397454	0.83122	-11.688	0.83298	D	.	.	0.923	0.84437	P	.;.	.;.	5.024944	0.83534	28.1	0.99865287228084942	0.94366	0.95306	0.64209	D	AEFBCI	0.710380	0.66416	D	0.586373256555931	0.72322	5.787748	0.585158434108229	0.73877	6.042619	0.999999999995359	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.833000	0.69056	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	15.536	0.75742	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	33	chr4	37830034	.	T	C	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=724;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=1.09;SOR=1.011	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	37837537	37837537	G	A	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon4:c.G365A:p.R122Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0118951956306	7.7e-05	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs139183829	4.114e-06	4.788e-06	5.459e-06	2.756e-06	5.411e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.411e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.853	0.02718	T	0.503	0.22828	T	0.018	0.17786	B	0.015	0.17295	B	0.000113	0.50451	N	0.205916	1	0.81001	D	0.265	0.09922	N	-0.02	0.62918	T	-0.06	0.07882	N	0.228	0.26717	-1.0008	0.29688	T	0.132	0.44347	T	10	0.18860602	0.34423	T	0.011895	0.29959	T	0.048	0.13305	.	.	0.74166409102	0.73934	0.6395563242608198	0.63890	0.0597761031305	0.06645	0.240844249725	0.02866	T	0.403664	0.76035	T	-0.116399	0.33715	T	-0.404975	0.32807	T	0.824876606464386	0.48137	D	0.891311	0.68490	D	0.06708044	0.14493	0.054589015	0.09418	0.06708044	0.14492	0.054589015	0.09418	-3.003	0.10213	T	.	.	0.095	0.14888	B	.;.	.;.	2.637999	0.34320	19.59	0.99624370380736971	0.75655	0.90820	0.52322	D	ALL	0.540066	0.55678	D	-0.25599308787287	0.30865	1.725088	-0.059725258739778	0.37072	2.16576	0.999999999997695	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.6	3.54	0.39650	4.046000	0.57088	2.525000	0.33139	0.674000	0.70861	1.000000	0.71638	0.996000	0.32793	0.991000	0.66497	0.153:0.0:0.847:0.0	12.994	0.58037	818	0.41518	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I;Alpha-D-phosphohexomutase, alpha/beta/alpha domain I	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3271.33	35	chr4	37837537	.	G	A	3271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.116;DP=844;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.884;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr4	37848627	37848627	A	G	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon11:c.A1388G:p.Q463R	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0179435365599	.	0.000199681	0.0004	0	0	0	0	1.5e-05	0	0.0026	0.0002846	44	154602	rs556251474	0.0002	0.0002	7.761e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-05	0.0002	0.0022	5.907e-05	5.905e-05	1.285e-05	0.0001	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.01	0.56456	D	0.09	0.40267	T	0.222	0.30359	B	0.392	0.44215	B	0.000008	0.62929	D	0.150619	0.998299	0.44734	D	2.64	0.77224	M	0.9	0.45248	T	-2.4	0.52776	N	0.624	0.63883	-0.6498	0.62723	T	0.230	0.59534	T	10	0.043755174	0.03258	T	0.017944	0.39831	T	0.218	0.51265	0.504	0.59770	0.708901879958	0.70636	0.7712569068279075	0.77075	0.080742506992	0.09089	0.491530299187	0.37650	T	0.814299	0.95392	D	-0.371276	0.03529	T	-0.311946	0.43448	T	0.269536168673879	0.23727	T	0.845215	0.52386	T	0.28094992	0.51139	0.34806928	0.60452	0.28094992	0.51139	0.34806928	0.60452	-7.571	0.58108	D	.	.	0.126	0.26825	B	.	.	3.645730	0.51717	23.1	0.99652832905394506	0.77442	0.97920	0.78131	D	AEFBI	0.851304	0.76816	D	0.330193387856091	0.57704	3.938832	0.372561111708039	0.59878	4.169591	0.999989455438125	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	4.48	0.53973	5.988000	0.70255	9.179000	0.79071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8731:0.0:0.0:0.1269	12.296	0.54164	802	0.44336	Alpha-D-phosphohexomutase, alpha/beta/alpha domain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	736.33	35	chr4	37848627	.	A	G	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.999;DP=698;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.649;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	18	0	1	0
chr4	38014736	38014736	C	A	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon3:c.C645A:p.N215K,TBC1D1:NM_015173:exon3:c.C645A:p.N215K	.	.	.	.	.	.	.	.	.	.	.	709348	Inborn_genetic_diseases|TBC1D1-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00411037004372	0.0022	0.00119808	0.0006	0.0079	0.0002	0	0	0	0	0	0.0005757	89	154602	rs201858985	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0070	0.0082	0.0004	0	0	0	0.0006	1.989e-06	0.0007	4.738e-05	0.0019	0.0019	0.0019	0.0019	0.0064	0.0017	0.0016	0.0058	0.0055	0.0064	0	0.0007	0	0	0	0	3.045e-05	0.0010	0	0.796	0.03150	T	0.501	0.11153	T	0.0	0.02946	B	0.001	0.04355	B	0.000097	0.00436	N	5.446160	1	0.08975	N	0	0.06538	N	3.7	0.16217	T	-0.64	0.18670	N	0.074	0.04790	-1.0044	0.28636	T	0.012	0.04700	T	10	0.003964573	0.00076	T	0.00411	0.09838	T	0.032	0.07718	0.204	0.11936	0.0666544352282	0.05500	0.20020185306895627	0.19937	0.606481293872	0.55497	0.348266601562	0.17666	T	0.046245	0.27364	T	-0.698861	0.00037	T	-0.772916	0.02673	T	0.0030148296069606	0.00032	T	0.253875	0.03902	T	0.031133138	0.02898	0.031654384	0.01785	0.031133138	0.02897	0.031654384	0.01784	-4.0	0.25687	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	-0.830364	0.01049	0.045	0.27960961485262309	0.01413	0.02496	0.06978	N	AEFDBI	0.030117	0.02969	N	-1.72661306285081	0.00751	0.03245293	-1.81077302231918	0.00725	0.03232031	0.999999960465682	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	3.61	-7.21	0.01340	-0.354000	0.07731	-4.197000	0.02287	-1.189000	0.01377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3785:0.0883:0.286:0.2472	1.470	0.02267	828	0.39726	.;PTB/PI domain;PTB/PI domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1250.33	35	chr4	38014736	.	C	A	1250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=712;ExcessHet=0;FS=9.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.968;SOR=1.337	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1352	18	0	1	0
chr4	38051978	38051978	C	T	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon12:c.C1990T:p.P664S	.	411	1094	16	1	0	18	0.00815956	.	.	.	777448	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00838658	0.0077	0.0052	0.0068	0.0205	0	0.0007	0.0097	0.0140	0.0013648	211	154602	rs117452860	0.0023	0.0022	0.0020	0.0026	0.0278	0.0022	0.0022	0.0264	0.0258	0.0029	0.0099	0.0021	0.0278	0	0.0082	0.0002	0.0036	0.0153	0.0027	0.0027	0.0028	0.0026	0.0151	0.0025	0.0024	0.0123	0.0113	0.0038	0	0.0051	0.0017	0.0147	0	0	0.0003	0.0024	0.0151	0.299	0.14546	T	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	0.999335	0.81001	D	.	.	.	3.62	0.04399	T	-0.32	0.12283	N	0.774	0.77132	-0.7079	0.60056	T	0.004	0.01192	T	8	0.0065568388	0.00149	T	.	.	.	0.087	0.25287	.	.	0.269111216191	0.26524	.	.	.	.	.	.	.	.	.	.	-0.5521	0.00283	T	-0.554154	0.16929	T	0.0100619775686471	0.00135	T	0.835616	0.50622	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.155	0.34339	B	.	.	2.873209	0.37996	20.6	0.98515519287653175	0.42398	0.86718	0.46059	D	AEFBIJ	0.386185	0.46665	N	0.19164663519664	0.50798	3.266462	0.312551521042106	0.56277	3.79076	0.999999949810211	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.447301	0.06993	0	.	.	5.65	5.65	0.86881	5.203000	0.65009	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.9261:0.0:0.0739	12.993	0.58033	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1137.33	42	chr4	38051978	.	C	T	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.434;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.812;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr4	38773195	38773195	C	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.G2396A:p.R799Q,TLR10:NM_001195106:exon3:c.G2396A:p.R799Q,TLR10:NM_001195107:exon3:c.G2396A:p.R799Q,TLR10:NM_001195108:exon3:c.G2354A:p.R785Q,TLR10:NM_030956:exon4:c.G2396A:p.R799Q	.	429	1047	46	0	0	46	0.0214953	.	.	.	2822487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00187015817586	0.0045	0.00339457	0.0048	0.0005	0.0047	0	0.0009	0.0060	0.0088	0.0080	0.0047735	738	154602	rs4129008	0.0035	0.0036	0.0033	0.0038	0.0134	0.0034	0.0034	0.0109	0.0100	0.0005	0.0040	0.0166	0	0.0007	0.0134	0.0031	0.0055	0.0084	0.0037	0.0037	0.0038	0.0036	0.0108	0.0034	0.0033	0.0084	0.0076	0.0004	0	0.0040	0.0173	0.0002	0.0002	0.0170	0.0050	0.0099	0.0108	0.287	0.15149	T	0.771	0.04461	T	0.007	0.14184	B	0.002	0.06944	B	0.263916	0.03727	N	1.716230	1	0.08975	N	1.245	0.31408	L	2.68	0.12371	T	-0.27	0.11366	N	0.066	0.07398	-0.9860	0.33590	T	0.014	0.05561	T	10	0.0044157505	0.00090	T	0.00187	0.03272	T	0.014	0.01968	.	.	0.18995819373	0.18626	0.1451211992874426	0.14435	0.0599924990014	0.06676	0.165198862553	0.00018	T	0.018991	0.15211	T	-0.679565	0.00048	T	-0.745059	0.03682	T	0.00263097535739466	0.00027	T	0.683132	0.29138	T	0.025159713	0.01423	0.028046945	0.01006	0.025159713	0.01423	0.028046945	0.01006	-3.703	0.19363	T	.	.	0.071	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.189900	0.03142	0.507	0.66708251931569984	0.08138	0.00969	0.03707	N	AEFBCI	0.042094	0.06485	N	-1.28919650298075	0.03804	0.1706082	-1.30982611816678	0.04303	0.2026425	0.173269479786867	0.17767	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	-1.62	0.07926	-0.865000	0.04358	-6.751000	0.01315	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.1917:0.2908:0.0:0.5175	5.535	0.16296	735	0.53711	.;.;.;.;.;.	.	.	.	.	rs4129008	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015106	0.000000	0.013587	0.008772	0.050000	0.000000	0.036585	0.007576	0.02632	467.33	62	chr4	38773195	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=851;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.281;SOR=0.916	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	18	0	1	0
chr4	38774560	38774560	G	A	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.C1031T:p.P344L,TLR10:NM_001195106:exon3:c.C1031T:p.P344L,TLR10:NM_001195107:exon3:c.C1031T:p.P344L,TLR10:NM_001195108:exon3:c.C989T:p.P330L,TLR10:NM_030956:exon4:c.C1031T:p.P344L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.1882165673	.	.	3.386e-05	0	0	0	0	3.038e-05	0	0.0001	4.53e-05	7	154602	rs761369746	3.885e-05	4.104e-05	3.722e-05	4.051e-05	0.0002	3.069e-05	2.758e-05	4.796e-05	3.529e-05	0	0	0	0	0	0.0002	4.252e-05	0	9.784e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000164	0.48594	D	0.000000	1	0.81001	D	2.86	0.83026	M	-1.69	0.82985	D	-9.95	0.98774	D	0.619	0.65930	0.628	0.92260	D	0.734	0.90909	D	10	0.9127592	0.90640	D	0.188217	0.85987	D	0.637	0.86130	.	.	0.983840411159	0.98366	0.4993408907485171	0.49855	0.32890653095	0.35006	0.384158909321	0.22844	T	0.261277	0.63274	T	0.0427797	0.57408	T	0.0134103	0.71202	D	0.996365070343018	0.89195	D	0.864814	0.56255	D	0.64255476	0.74967	0.53235584	0.72978	0.64255476	0.74968	0.53235584	0.72978	-6.456	0.49945	T	.	.	0.356	0.61265	A	.;.;.;.;.;.	.;.;.;.;.;.	4.330362	0.66345	25.0	0.99872704774417453	0.94989	0.95030	0.63183	D	AEFGBCI	0.831444	0.74998	D	0.788224174595275	0.85362	8.553777	0.723804624680245	0.84185	8.222386	0.999999999207201	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.99	4.99	0.65942	7.605000	0.82070	7.285000	0.58036	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	18.262	0.89978	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2621.33	49	chr4	38774560	.	G	A	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=2901;ExcessHet=0;FS=0.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.83;SOR=0.63	GT:AD:DP:GQ:PL	0/0:171,0:171:99:0,120,1800	18	0	1	0
chr4	38775248	38775248	A	T	exonic	TLR10	.	nonsynonymous SNV	TLR10:NM_001017388:exon2:c.T343A:p.L115I,TLR10:NM_001195106:exon3:c.T343A:p.L115I,TLR10:NM_001195107:exon3:c.T343A:p.L115I,TLR10:NM_001195108:exon3:c.T301A:p.L101I,TLR10:NM_030956:exon4:c.T343A:p.L115I	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00638978	0.0025	0	8.667e-05	0.0001	0	3.004e-05	0.0011	0.0180	0.0021992	340	154602	rs201054490	0.0010	0.0010	0.0006	0.0014	0.0163	0.0010	0.0009	0.0156	0.0153	0	2.244e-05	0	5.039e-05	0	0.0009	5.397e-06	0.0010	0.0163	0.0006	0.0006	0.0003	0.0010	0.0195	0.0005	0.0005	0.0163	0.0151	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0195	0.248	0.17239	T	0.308	0.19845	T	0.087	0.24971	B	0.116	0.31939	B	0.282109	0.14926	N	0.546949	1	0.08975	N	0.42	0.12520	N	1.66	0.27486	T	-0.44	0.14588	N	0.143	0.18784	-1.0212	0.23324	T	0.048	0.20672	T	10	0.0062181056	0.00140	T	.	.	.	0.011	0.01250	0.497	0.58678	0.474406357249	0.47070	0.07223057680280812	0.07160	0.057098130561	0.06318	0.272871762514	0.06518	T	0.027522	0.20139	T	-0.622434	0.00106	T	-0.653234	0.08729	T	0.0151651456043097	0.00331	T	0.690331	0.29972	T	0.06035557	0.12375	0.04624237	0.06402	0.06035557	0.12375	0.04624237	0.06402	-5.049	0.37367	T	.	.	0.080	0.08899	B	.;.;.;.;.;.	.;.;.;.;.;.	1.163330	0.15522	11.91	0.88067447413078193	0.17691	0.05078	0.10873	N	AEFBCI	0.083623	0.16943	N	-0.769190203444984	0.14117	0.7006795	-0.774099613117215	0.15131	0.7942604	0.781175535967202	0.23845	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.23	0.247	0.14781	-0.160000	0.10029	-1.123000	0.06262	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.4277:0.0:0.3376:0.2347	4.457	0.11070	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	1868.33	49	chr4	38775248	.	A	T	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1508;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.406;SOR=0.709	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr4	38797454	38797454	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A1378G:p.I460V	.	422	1099	1	0	0	1	0.000454752	.	.	.	116943	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.066	.	.	0.000599042	0.0008	0	8.664e-05	0.0101	0	5.995e-05	0	0.0004	4.53e-05	7	154602	rs137853171	0.0004	0.0004	0.0003	0.0004	0.0098	0.0003	0.0003	0.0090	0.0087	5.974e-05	0	0	0.0098	1.872e-05	0	7.194e-05	0.0002	0.0004	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0042	0.0036	0	0	0	0	0.0058	0	0	7.349e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.043	0.21573	B	0.058	0.26451	B	0.011604	0.29466	N	0.232673	0.997036	0.22815	N	1.21	0.30464	L	0.03	0.62183	T	-0.17	0.09627	N	0.134	0.13055	-1.0061	0.28126	T	0.084	0.32872	T	10	0.006364435	0.00144	T	.	.	.	0.066	0.19193	.	.	0.0666544352282	0.05500	0.06386684918979359	0.06325	0.363663983973	0.37991	0.406907081604	0.26028	T	0.059532	0.31141	T	-0.481523	0.00724	T	-0.45876	0.26736	T	0.0143200174121759	0.00286	T	0.751425	0.37327	T	0.023515496	0.01098	0.026480597	0.00740	0.023515496	0.01097	0.026480597	0.00740	-3.02	0.10398	T	.	.	0.127	0.27343	B	.;.	.;.	0.075755	0.04829	1.431	0.18509252235534873	0.00585	0.11861	0.16908	N	AEFDGBI	0.130846	0.24956	N	-1.06599598278043	0.07277	0.3375783	-1.00437864360051	0.09689	0.4834777	0.99938546512648	0.39415	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.85	3.66	0.41111	0.564000	0.23265	0.283000	0.16788	-0.671000	0.04298	0.095000	0.22689	0.071000	0.22219	0.006000	0.07323	0.0:0.2525:0.0:0.7475	7.253	0.25337	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1898.33	112	chr4	38797454	.	T	C	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.065;DP=1742;ExcessHet=0;FS=24.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.54;MQRankSum=0.085;QD=11.94;ReadPosRankSum=1.75;SOR=1.238	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	18	0	1	0
chr4	38798661	38798661	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A171G:p.I57M	.	427	1079	16	0	0	16	0.00735971	.	.	.	698511	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.380	0.0357132146712	0.0035	0.00119808	0.0035	0.0004	0.0039	0	0.0006	0.0055	0.0055	0.0001	0.0033247	514	154602	rs145135062	0.0028	0.0028	0.0027	0.0029	0.0095	0.0027	0.0027	0.0075	0.0068	0.0005	0.0035	0.0120	0	0.0007	0.0095	0.0029	0.0042	0.0002	0.0029	0.0029	0.0031	0.0026	0.0045	0.0026	0.0026	0.0041	0.0039	0.0004	0	0.0035	0.0104	0	0.0002	0.0204	0.0045	0.0071	0.0002	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.998725	0.45339	D	3.195	0.89043	M	1.88	0.86283	T	-2.07	0.48354	N	0.501	0.53357	0.349	0.88316	D	0.705	0.89845	D	10	0.0070956647	0.00161	T	0.035713	0.56527	D	0.380	0.69780	.	.	0.784146221207	0.78214	0.16825757001338518	0.16745	0.33793397055	0.35772	0.451581150293	0.32160	T	0.369571	0.73426	T	-0.0951791	0.37222	T	0.0929785	0.76444	D	0.0858764497800101	0.10720	T	0.685431	0.29475	T	0.6318709	0.74398	0.2807124	0.54048	0.6318709	0.74399	0.2807124	0.54047	-7.76	0.59423	D	.	.	0.253	0.56285	B	.;.;.;.	.;.;.;.	2.724733	0.35650	19.95	0.99355563446310891	0.60779	0.67849	0.33583	D	AEBI	0.373836	0.45896	N	0.181313089332999	0.50301	3.221524	-0.0203718895559557	0.38795	2.29086	0.994903310702229	0.33856	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.93	2.39	0.28492	0.135000	0.15775	2.503000	0.33037	0.665000	0.62972	0.692000	0.28550	1.000000	0.68203	0.894000	0.43146	0.2551:0.0:0.2636:0.4813	5.971	0.18588	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009577	0.005102	0.006793	0.000000	0.050000	0.000000	0.024390	0.003788	0.02632	1891.33	139	chr4	38798661	.	T	C	1891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.516;DP=863;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.533;SOR=0.598	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1282	18	0	1	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.038771	0.035354	0.032609	0.070175	0.150000	0.060345	0.027439	0.018939	0.02632	1010.33	33	chr4	38827207	.	G	A	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=751;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.745;SOR=1.151	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1024,0,859	18	0	1	0
chr4	38827699	38827699	C	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.G1775T:p.G592V	.	417	1099	6	0	0	6	0.00272232	.	.	.	698512	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.0175719	0.0059	0.0010	0.0009	0.0366	0	0.0002	0.0066	0.0216	0.0009961	154	154602	rs75244616	0.0028	0.0028	0.0022	0.0034	0.0421	0.0028	0.0027	0.0404	0.0398	0.0011	0.0019	0	0.0421	7.488e-05	0.0012	0.0002	0.0042	0.0220	0.0033	0.0033	0.0025	0.0041	0.0392	0.0030	0.0029	0.0348	0.0331	0.0012	0	0.0051	0	0.0392	0	0	0.0003	0.0038	0.0291	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.912527	0.08543	N	0.956080	0.999994	0.08975	N	0.43	0.12624	N	2.98	0.09356	T	2.13	0.00351	N	0.108	0.11197	-0.9248	0.44886	T	0.003	0.01092	T	10	0.0022054613	0.00032	T	.	.	.	0.066	0.19193	.	.	0.204665344411	0.20097	0.45608357894202817	0.45526	0.190400828825	0.21358	0.256260871887	0.04455	T	0.043897	0.26645	T	-0.674208	0.00052	T	-0.713367	0.05123	T	0.00657026962814018	0.00073	T	0.721628	0.33490	T	0.045740668	0.07538	0.052120097	0.08525	0.045740668	0.07538	0.052120097	0.08524	-2.6	0.06504	T	.	.	0.067	0.02488	B	.;.	.;.	-0.649643	0.01442	0.087	0.70143489522614688	0.09200	0.02013	0.06052	N	AEFGBCI	0.079412	0.16038	N	-1.55655873388084	0.01497	0.06534418	-1.58512605036981	0.01746	0.07941653	0.877453039579223	0.25546	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.2	-4.9	0.02866	0.525000	0.22664	-2.184000	0.04090	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7852:0.1278:0.087:0.0	14.140	0.64846	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	2932.33	33	chr4	38827699	.	C	A	2932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.601;DP=1227;ExcessHet=0;FS=5.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-7.038;QD=15.19;ReadPosRankSum=-0.961;SOR=0.817	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr4	38878197	38878197	C	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350632:exon2:c.C119T:p.S40L,FAM114A1:NM_001350635:exon2:c.C119T:p.S40L,FAM114A1:NM_001375792:exon2:c.C119T:p.S40L,FAM114A1:NM_001375793:exon2:c.C119T:p.S40L,FAM114A1:NM_138389:exon3:c.C119T:p.S40L	.	421	1086	15	0	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0081	0.0157748	0.0061	0.0217	0.0023	0.0059	0	0.0012	0.0011	0.0215	0.0057179	884	154602	rs34137542	0.0031	0.0031	0.0026	0.0035	0.0244	0.0030	0.0030	0.0230	0.0225	0.0244	0.0020	0	0.0136	7.489e-05	0.0035	0.0009	0.0043	0.0200	0.0085	0.0085	0.0085	0.0085	0.0240	0.0081	0.0080	0.0228	0.0223	0.0240	0.0044	0.0042	0	0.0083	0.0002	0	0.0008	0.0076	0.0240	0.495	0.09600	T	0.34	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.497446	0.11988	N	0.739752	1	0.08975	N	0.695	0.17993	N	2.03	0.20959	T	-0.36	0.25551	N	0.09	0.06854	-0.9824	0.34445	T	0.014	0.05465	T	10	0.0031594634	0.00053	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.11119508534915343	0.11048	0.0590795601073	0.06558	0.30372685194	0.10959	T	0.002292	0.01691	T	-0.61533	0.00118	T	-0.635026	0.10035	T	0.00104489575706193	0.00010	T	0.730127	0.37241	T	0.03301183	0.03435	0.038464375	0.03722	0.03301183	0.03435	0.038464375	0.03722	-3.757	0.20164	T	.	.	0.083	0.09094	B	.;.	.;.	0.403446	0.07744	4.428	0.12183678467777848	0.00204	0.02394	0.06790	N	AEFGBI	0.068032	0.13401	N	-0.956910368729772	0.09538	0.4518637	-0.997644231931844	0.09838	0.4918054	0.926520147409977	0.26855	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.69	0.855	0.18150	0.398000	0.20624	0.726000	0.21050	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.0:0.5867:0.0:0.4133	7.600	0.27238	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.008152	0.002924	0.000000	0.008621	0.000000	0.018939	0.02632	2121.33	37	chr4	38878197	.	C	T	2121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=923;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.428;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1470	18	0	1	0
chr4	38938495	38938495	A	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350631:exon12:c.A943T:p.T315S	.	1119	399	3	1	0	5	0.00622665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0074151	193	26028	rs150017141	0	0.0001	0	0	.	0	0	.	.	.	.	.	.	0	.	.	0	.	0.0047	0.0047	0.0044	0.0050	0.0532	0.0044	0.0043	0.0479	0.0458	0.0013	0	0.0021	0.0006	0.0023	0.0007	0.0034	0.0051	0.0024	0.0532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	38	chr4	38938495	.	A	T	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.133;DP=769;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.658;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	18	0	1	0
chr4	38998856	38998856	A	T	exonic	TMEM156	.	nonsynonymous SNV	TMEM156:NM_001303228:exon2:c.T142A:p.Y48N,TMEM156:NM_024943:exon2:c.T142A:p.Y48N	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00749179814587	0.0004	0.000798722	0.0009	0	0.0026	0	0	0.0004	0.0044	0.0027	0.0007568	117	154602	rs146524602	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0005	0.0027	0.0026	0	0.0021	3.828e-05	0	1.873e-05	0.0014	0.0003	0.0006	0.0030	0.0004	0.0004	0.0004	0.0004	0.0018	0.0003	0.0003	0.0013	0.0011	9.622e-05	0	0.0018	0	0	0	0	0.0004	0.0014	0.0015	0.099	0.30656	T	0.252	0.23570	T	0.073	0.24078	B	0.064	0.27215	B	0.438121	0.12662	N	0.727649	1	0.08975	N	2.505	0.72935	M	1.75	0.26152	T	-5.93	0.90332	D	0.334	0.37509	-1.0119	0.26322	T	0.049	0.20987	T	10	0.012524933	0.00269	T	0.007492	0.19872	T	0.067	0.19503	.	.	0.297031009988	0.29315	0.30078553010206294	0.29991	0.0445187300976	0.04807	0.390174865723	0.23694	T	0.024085	0.18267	T	-0.438045	0.01328	T	-0.405048	0.32797	T	0.0883604236819999	0.11021	T	0.723028	0.33655	T	0.16905516	0.37400	0.23395243	0.48599	0.16905516	0.37399	0.23395243	0.48598	-3.284	0.13532	T	.	.	0.089	0.15070	B	.;.	.;.	1.489786	0.19165	14.12	0.63635648495871955	0.07276	0.40293	0.26404	N	AEFBI	0.086764	0.17593	N	-0.558336209723447	0.20223	1.064509	-0.556170380723415	0.20642	1.11306	1.45041214246193E-4	0.05573	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	2.38	0.28415	1.707000	0.37507	1.543000	0.27241	0.756000	0.94297	0.999000	0.42656	0.831000	0.27213	0.304000	0.24594	0.7251:0.0:0.0962:0.1787	4.147	0.09689	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1113.33	33	chr4	38998856	.	A	T	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.348;DP=700;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.663;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	18	0	1	0
chr4	39086540	39086540	A	G	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon4:c.A743G:p.N248S,KLHL5:NM_001171654:exon5:c.A503G:p.N168S,KLHL5:NM_015990:exon5:c.A926G:p.N309S,KLHL5:NM_001007075:exon6:c.A926G:p.N309S	.	436	1085	1	0	0	1	0.000460617	.	.	.	3700838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0178136413118	.	.	8.268e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs774243780	1.916e-05	1.915e-05	2.178e-05	1.65e-05	2.428e-05	1.329e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.29	0.18246	T	0.334	0.18340	T	0.685	0.41537	P	0.491	0.47504	P	0.000030	0.55875	D	0.191144	0.999865	0.50061	D	0.51	0.13489	N	-0.21	0.66294	T	-3.2	0.65627	D	0.151	0.22998	-0.7877	0.55863	T	0.200	0.55569	T	10	0.20005426	0.36037	T	0.017814	0.39652	T	0.192	0.47115	0.449	0.50957	0.713116748558	0.71060	0.14087666350309283	0.14010	0.306033625697	0.32903	0.693222522736	0.66169	T	0.379095	0.74192	T	-0.179355	0.23830	T	-0.495408	0.22825	T	0.408484250307083	0.29261	T	0.954405	0.83071	D	0.1556662	0.35171	0.21534827	0.46121	0.1556662	0.35171	0.21534827	0.46120	-6.489	0.52238	T	.	.	0.225	0.59228	B	.;.;.;.;.	.;.;.;.;.	4.143582	0.62103	24.4	0.99816791283975437	0.89973	0.90497	0.51722	D	AEFDBI	0.527567	0.54945	D	0.139638834204641	0.48322	3.045905	0.298837136175856	0.55472	3.710176	0.999999892528735	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	5.181000	0.64892	11.259000	0.91010	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.972	0.79822	501	0.75956	.;.;BTB/Kelch-associated|BTB/Kelch-associated;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1103.33	34	chr4	39086540	.	A	G	1103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=715;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.604;SOR=1.109	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr4	39115178	39115178	A	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon9:c.A1738T:p.M580L,KLHL5:NM_001171654:exon10:c.A1498T:p.M500L,KLHL5:NM_015990:exon10:c.A1921T:p.M641L,KLHL5:NM_001007075:exon11:c.A1921T:p.M641L	.	431	1089	2	0	0	2	0.000917431	.	.	.	2672435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0140531668623	0.0009	0.000199681	0.0013	0.0003	0.0009	0	0.0014	0.0019	0	0.0005	0.0012354	191	154602	rs148371989	0.0014	0.0014	0.0015	0.0014	0.0018	0.0014	0.0013	0.0015	0.0015	0.0003	0.0018	0.0015	0	0.0010	0.0010	0.0016	0.0014	0.0002	0.0014	0.0014	0.0014	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0004	0	0.0041	0.0003	0	0.0009	0	0.0018	0.0019	0	0.012	0.54683	D	0.125	0.35330	T	0.001	0.11197	B	0.016	0.17743	B	0.000071	0.52346	D	0.254899	0.529093	0.31506	N	0.49	0.13296	N	-1.07	0.76948	T	-0.86	0.23372	N	0.285	0.39356	-0.7817	0.56206	T	0.220	0.58345	T	10	0.024781168	0.00694	T	0.014053	0.33902	T	0.264	0.57741	0.338	0.32816	0.680885744014	0.67817	0.09243696715219937	0.09175	0.321520750167	0.34353	0.493598252535	0.37938	T	0.202333	0.56048	T	-0.339865	0.05397	T	-0.257243	0.49099	T	0.0211525635329985	0.00817	T	0.877212	0.60417	D	0.12230421	0.28743	0.16655299	0.38472	0.12230421	0.28743	0.16655299	0.38471	-3.894	0.22212	T	.	.	0.100	0.17953	B	.;.;.;.;.	.;.;.;.;.	2.179954	0.27787	17.58	0.90757521411027398	0.20007	0.31527	0.24360	N	AEFDBI	0.200631	0.32735	N	-0.689612233884166	0.16316	0.8302106	-0.58485393658787	0.19887	1.069054	0.997569780044731	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	6.06	-0.504	0.11398	0.289000	0.18713	2.947000	0.35694	0.756000	0.94297	0.018000	0.19461	0.963000	0.29397	1.000000	0.97212	0.541:0.0:0.459:0.0	11.421	0.49223	494	0.76445	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	775.33	34	chr4	39115178	.	A	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=1011;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.376;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	18	0	1	0
chr4	39277025	39277025	C	T	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon33:c.C3242T:p.P1081L,WDR19:NM_025132:exon34:c.C3722T:p.P1241L	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	298413	WDR19-related_disorder|not_provided|Nephronophthisis_13|Cranioectodermal_dysplasia_4|Asphyxiating_thoracic_dystrophy_5|Bardet-Biedl_syndrome|Senior-Loken_syndrome_8	.|MedGen:C3661900|MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.303	0.0839820763914	.	0.00139776	0.0008	0	8.639e-05	0	0	0	0.0011	0.0056	0.0006662	103	154602	rs576113399	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0002	3.598e-06	0.0002	0.0068	0.0002	0.0002	8.996e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	9.625e-05	0	0	0	0	0	0	0	0	0.0048	0.004	0.65419	D	0.013	0.63109	D	0.954	0.54400	P	0.662	0.52860	P	0.000000	0.84330	D	0.046853	0.999999	0.58761	D	3.085	0.87354	M	-0.24	0.66834	T	-5.08	0.82896	D	0.629	0.64308	-0.1699	0.78431	T	0.402	0.75324	T	10	0.014742434	0.00310	T	0.083982	0.74230	D	0.303	0.62400	0.353	0.35246	0.813371712031	0.81161	0.6906328432066096	0.69003	0.597724722222	0.54960	0.63251388073	0.57502	T	0.557095	0.85108	D	-0.28124	0.10536	T	-0.174147	0.57063	T	0.213206483886988	0.21120	T	0.923208	0.72041	D	0.278448	0.50898	0.26033202	0.51795	0.278448	0.50898	0.26033202	0.51794	-8.088	0.61669	D	.	.	0.244	0.47816	B	.	.	3.786315	0.54474	23.5	0.99818030561607474	0.90150	0.94990	0.63039	D	AEFBI	0.420275	0.48717	N	0.54600680209023	0.69838	5.414416	0.492423768725063	0.67486	5.090594	0.93584618479406	0.27230	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	2.720000	0.46921	6.025000	0.52847	0.549000	0.26987	0.984000	0.35821	1.000000	0.68203	0.221000	0.22489	0.1413:0.7221:0.1366:0.0	11.183	0.47869	391	0.83213	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1249.33	40	chr4	39277025	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.222;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr4	39448675	39448675	G	A	exonic	KLB	.	nonsynonymous SNV	KLB:NM_175737:exon5:c.G3124A:p.V1042I	.	423	1096	3	0	0	3	0.00136674	.	.	.	720978	not_provided|KLB-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.0146064754926	0.0030	0.000599042	0.0036	0.0005	0.0010	0	0.0052	0.0057	0.0011	6.391e-05	0.0034928	540	154602	rs143809363	0.0036	0.0036	0.0037	0.0035	0.0076	0.0035	0.0035	0.0058	0.0052	0.0007	0.0018	0.0001	0	0.0055	0.0076	0.0042	0.0034	9.284e-05	0.0027	0.0027	0.0026	0.0028	0.0046	0.0025	0.0024	0.0042	0.0040	0.0007	0.0011	0.0011	0	0	0.0041	0.0034	0.0046	0.0033	0	0.035	0.43708	D	0.0	0.92824	D	0.18	0.29046	B	0.03	0.21741	B	0.442178	0.04766	N	1.335990	0.994194	0.23568	N	1.32	0.33002	L	1.67	0.27331	T	-0.16	0.09460	N	0.122	0.11340	-1.0599	0.11781	T	0.064	0.26597	T	10	0.004071802	0.00080	T	0.014606	0.34839	T	0.098	0.28162	.	.	0.464270400615	0.46053	0.2239415603568053	0.22309	0.00648413561116	0.00566	0.374598711729	0.21488	T	0.021818	0.16927	T	-0.579153	0.00195	T	-0.600964	0.12730	T	0.0163311380054414	0.00403	T	0.475352	0.14216	T	0.07787271	0.17701	0.09780823	0.23294	0.07787271	0.17701	0.09780823	0.23294	-3.559	0.17267	T	.	.	0.092	0.13409	B	.	.	2.934680	0.38996	20.9	0.9818863236017964	0.39010	0.82532	0.41746	D	AEFDBHCI	0.204380	0.33082	N	-0.224035125635601	0.32148	1.810043	-0.0808912342691369	0.36181	2.102317	0.999999995347613	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	5.68	4.83	0.61880	2.135000	0.41735	6.063000	0.53189	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.1344:0.0:0.8656:0.0	12.582	0.55750	544	0.72685	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	37	chr4	39448675	.	G	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=786;ExcessHet=0;FS=8.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.028;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr4	39471248	39471248	C	T	exonic	LIAS	.	nonsynonymous SNV	LIAS:NM_001363700:exon6:c.C587T:p.A196V,LIAS:NM_001278590:exon8:c.C767T:p.A256V,LIAS:NM_006859:exon9:c.C896T:p.A299V,LIAS:NM_194451:exon9:c.C896T:p.A299V	Hyperglycinemia, lactic acidosis, and seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0296981151464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748175505	6.855e-07	1.368e-06	0	1.378e-06	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.07746	T	0.535	0.12107	T	0.021	0.27154	B	0.02	0.26280	B	0.000000	0.84330	D	0.046862	1	0.81001	D	1.38	0.34346	L	-0.98	0.75789	T	-0.68	0.19509	N	0.473	0.50868	-0.7117	0.59869	T	0.266	0.63716	T	10	0.3648166	0.53016	T	0.029698	0.52157	D	0.323	0.64522	0.404	0.43573	0.834859744198	0.83328	0.8810451983804272	0.88072	0.392848426597	0.40462	0.688378930092	0.65473	T	0.275724	0.64827	T	0.168208	0.70959	D	0.00384316	0.70584	D	0.727299213409424	0.42070	D	0.982102	0.95648	D	0.20496413	0.42624	0.1667776	0.38511	0.20496413	0.42624	0.1667776	0.38510	-1.862	0.06695	T	0.11976344232232068	0.11193	0.12	0.36772	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.643385	0.51676	23.1	0.97902084264221834	0.36752	0.98634	0.84950	D	AEFBI	0.851305	0.76816	D	-0.0187071575971679	0.41008	2.445372	0.199901846817131	0.49841	3.183	0.999999999999459	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	7.384000	0.79020	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:1.0:0.0:0.0	18.877	0.92311	529	0.73716	Radical SAM|Elp3/MiaB/NifB;.;Elp3/MiaB/NifB;Elp3/MiaB/NifB;.;.;Elp3/MiaB/NifB;Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	894.33	49	chr4	39471248	.	C	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=1120;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.6;SOR=0.793	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr4	40354085	40354085	C	A	exonic	CHRNA9	.	nonsynonymous SNV	CHRNA9:NM_017581:exon5:c.C1005A:p.H335Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	7.7e-05	0.00439297	0.0028	9.612e-05	8.637e-05	0.0027	0	8.991e-05	0.0033	0.0187	0.0024579	380	154602	rs200543085	0.0012	0.0012	0.0007	0.0017	0.0184	0.0012	0.0011	0.0176	0.0173	8.961e-05	8.944e-05	0	0.0014	0	0.0002	2.968e-05	0.0016	0.0184	0.0008	0.0008	0.0005	0.0012	0.0207	0.0007	0.0007	0.0174	0.0162	0.0001	0	6.537e-05	0	0.0031	0	0	0.0001	0	0.0207	0.497	0.07821	T	0.587	0.08302	T	0.001	0.07471	B	0.002	0.06944	B	0.010258	0.30003	N	0.431667	0.996306	0.43129	D	0.435	0.12660	N	-1.91	0.84701	D	-1.19	0.30346	N	0.031	0.00770	-0.5660	0.66173	T	0.354	0.71728	T	10	0.011682123	0.00254	T	.	.	.	0.203	0.48915	0.299	0.26522	0.884440965958	0.88330	0.35682375276498274	0.35596	0.065084757058	0.07269	0.255490064621	0.04368	T	0.173628	0.52256	T	-0.483807	0.00703	T	-0.453452	0.27315	T	0.0135835750892417	0.00251	T	0.365463	0.08501	T	0.14545335	0.33341	0.08862785	0.20676	0.14545335	0.33341	0.08862785	0.20676	-2.908	0.09223	T	.	.	0.092	0.13597	B	.	.	0.837922	0.12098	8.648	0.96313951011915377	0.29390	0.36982	0.25658	N	AEFDBI	0.231350	0.35459	N	-0.362949575091242	0.26800	1.465403	-0.176586999996762	0.32400	1.842929	0.869846398938082	0.25393	0.497415	0.19182	0	0.547309	0.14657	0	0.612816	0.40813	0	0.542086	0.14980	0	.	.	5.72	4.84	0.62125	-0.114000	0.10729	0.574000	0.19636	0.599000	0.40250	0.258000	0.24929	0.085000	0.22446	0.794000	0.37478	0.1054:0.7384:0.1562:0.0	12.947	0.57774	814	0.42100	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2038.33	35	chr4	40354085	.	C	A	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=994;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.28;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr4	40432716	40432716	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1270A:p.A424T,RBM47:NM_001371113:exon5:c.G1477A:p.A493T,RBM47:NM_001371114:exon5:c.G1363A:p.A455T,RBM47:NM_001098634:exon6:c.G1477A:p.A493T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0403908792523	.	.	2.526e-05	0.0001	0	0.0001	0	1.536e-05	0	0	1.94e-05	3	154602	rs748134090	1.166e-05	1.232e-05	9.556e-06	1.379e-05	1.351e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	1.662e-05	1.163e-05	3.286e-05	3.282e-05	2.571e-05	4.034e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.404e-05	4.816e-05	0	0	0	0.0006	0	0	0	0	0	0.123	0.48186	T	0.31	0.25135	T	0.999	0.77913	D	0.985	0.78936	D	0.106626	0.19606	N	0.571278	0.99999	0.58761	D	1.32	0.33002	L	2.02	0.23082	T	-0.12	0.08809	N	0.482	0.57263	-1.0645	0.10666	T	0.074	0.29928	T	10	0.34846124	0.51760	T	0.040391	0.59348	D	0.213	0.50496	0.259	0.20159	0.082315109003	0.07666	0.7154601592543018	0.71489	0.844674069954	0.68227	0.532006144524	0.43317	T	0.079094	0.36047	T	-0.224262	0.17414	T	-0.377146	0.36056	T	0.29628776645464	0.24850	T	0.860614	0.55382	D	0.08241198	0.18984	0.09916821	0.23668	0.08241198	0.18984	0.09916821	0.23668	-8.328	0.63284	D	.	.	0.128	0.27702	B	.;.;.;.	.;.;.;.	2.792500	0.36715	20.3	0.9954274494061357	0.70586	0.98499	0.83426	D	AEFDBI	0.661377	0.63162	D	0.185922827236151	0.50524	3.241498	0.231537752755156	0.51606	3.341662	0.99999999997597	0.74766	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	4.013000	0.56850	5.381000	0.48456	0.531000	0.24825	0.998000	0.41325	0.989000	0.31174	0.026000	0.12556	0.0:1.0:0.0:0.0	18.847	0.92179	835	0.38313	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1015.33	34	chr4	40432716	.	C	T	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.05;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.398;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1396	18	0	1	0
chr4	40944954	40944954	C	G	exonic	APBB2	.	nonsynonymous SNV	APBB2:NM_001330658:exon6:c.G952C:p.E318Q,APBB2:NM_001166050:exon7:c.G952C:p.E318Q,APBB2:NM_001330656:exon7:c.G952C:p.E318Q,APBB2:NM_004307:exon7:c.G955C:p.E319Q,APBB2:NM_173075:exon7:c.G952C:p.E318Q	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0326850004237	8.1e-05	.	6.624e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200056833	4.105e-05	4.104e-05	3.676e-05	4.538e-05	0.0016	3.245e-05	2.919e-05	0.0008	0.0006	0	0	0	0	0	0.0016	4.137e-05	4.968e-05	2.319e-05	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.548e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0	0	0	2.94e-05	0	0	0.304	0.14400	T	0.296	0.20680	T	0.054	0.22658	B	0.209	0.37260	B	0.000000	0.84330	D	0.046677	0.999995	0.58761	D	0.65	0.16133	N	-2.49	0.89145	D	-1.46	0.35792	N	0.306	0.35194	-0.8628	0.51061	T	0.213	0.57334	T	10	0.3269747	0.49987	T	0.032685	0.54446	D	0.398	0.71242	.	.	0.868913020322	0.86763	0.5912765784752176	0.59057	0.527592878599	0.50365	0.557782292366	0.46954	T	0.526863	0.83555	D	-0.0774137	0.40135	T	-0.145376	0.59651	T	0.0866920557141349	0.10821	T	0.918508	0.76191	D	0.19508815	0.41284	0.14081042	0.33553	0.19508815	0.41283	0.14081042	0.33552	-3.439	0.18832	T	.	.	0.101	0.26263	B	.;.;.;.	.;.;.;.	3.155742	0.42741	21.6	0.98735743696956224	0.45422	0.95868	0.66499	D	AEFBI	0.700229	0.65732	D	0.292762783841431	0.55780	3.742236	0.392860657292383	0.61124	4.30825	0.99999993299822	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	4.769000	0.61997	7.627000	0.62562	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0:0.861:0.139:0.0	16.558	0.84339	871	0.31377	WW domain|WW domain|WW domain|WW domain|WW domain;.;.;WW domain|WW domain|WW domain|WW domain|WW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1148.33	34	chr4	40944954	.	C	G	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=755;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-1.56;SOR=0.575	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1107	18	0	1	0
chr4	41646750	41646750	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon6:c.G1024A:p.A342T,LIMCH1:NM_001330674:exon6:c.G1024A:p.A342T,LIMCH1:NM_001112719:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330793:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330982:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330983:exon7:c.G1060A:p.A354T,LIMCH1:NM_001330786:exon9:c.G1045A:p.A349T,LIMCH1:NM_001289122:exon11:c.G1486A:p.A496T,LIMCH1:NM_001289124:exon11:c.G1009A:p.A337T,LIMCH1:NM_001330791:exon11:c.G1486A:p.A496T,LIMCH1:NM_001330792:exon11:c.G1486A:p.A496T,LIMCH1:NM_001112717:exon12:c.G1522A:p.A508T,LIMCH1:NM_001112718:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330784:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330787:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330788:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330789:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330790:exon12:c.G1522A:p.A508T,LIMCH1:NM_014988:exon12:c.G1522A:p.A508T,LIMCH1:NM_001330672:exon17:c.G2677A:p.A893T	.	429	1071	20	2	0	24	0.0110803	.	.	.	2822505	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0047	0.00359425	0.0052	0.0015	0.0085	0	0.0032	0.0071	0.0077	0.0009	0.0051228	792	154602	rs148133956	0.0064	0.0064	0.0065	0.0063	0.0118	0.0063	0.0062	0.0095	0.0087	0.0017	0.0086	0.0155	5.038e-05	0.0039	0.0118	0.0069	0.0070	0.0015	0.0055	0.0055	0.0055	0.0054	0.0113	0.0051	0.0050	0.0099	0.0094	0.0013	0.0274	0.0113	0.0167	0	0.0046	0.0136	0.0065	0.0095	0.0008	0.499	0.15303	T	0.794	0.07292	T	0.0	0.38523	B	0.003	0.39840	B	0.129721	0.18685	N	0.553556	1	0.08975	N	0.805	0.20218	L	0.91	0.45248	T	-0.66	0.21860	N	0.168	0.21319	-1.0292	0.20713	T	0.050	0.21261	T	10	0.00248155	0.00037	T	.	.	.	0.041	0.10877	.	.	0.213499824651	0.20940	0.1727013451243501	0.17190	0.149234037661	0.16829	0.340407550335	0.16499	T	0.001202	0.11307	T	-0.562297	0.00246	T	-0.574787	0.15013	T	0.0019816088015616	0.00020	T	0.842016	0.51794	T	0.028271142	0.02139	0.038525514	0.03741	0.028271142	0.02139	0.038525514	0.03741	-2.814	0.12517	T	.	.	0.064	0.03093	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.131951	0.05276	1.772	0.96805671925739467	0.31169	0.50027	0.28568	D	AEFGBI	0.154834	0.27993	N	-1.09279464495782	0.06775	0.3128561	-1.03543021211502	0.09012	0.4460902	0.999909578755879	0.45458	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.46	0.805	0.17845	0.577000	0.23461	0.397000	0.17956	-0.163000	0.11536	0.123000	0.23227	0.005000	0.19230	0.904000	0.43992	0.3205:0.0:0.573:0.1065	7.173	0.24905	724	0.55085	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.015152	0.012228	0.005848	0.050000	0.008621	0.015244	0.003788	0.02632	1915.33	33	chr4	41646750	.	G	A	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.39;DP=850;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.048;SOR=0.905	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	41650399	41650399	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon7:c.G1174A:p.G392R,LIMCH1:NM_001330674:exon7:c.G1174A:p.G392R,LIMCH1:NM_001112719:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330793:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330982:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330983:exon8:c.G1210A:p.G404R,LIMCH1:NM_001330786:exon10:c.G1195A:p.G399R,LIMCH1:NM_001289122:exon12:c.G1636A:p.G546R,LIMCH1:NM_001289124:exon12:c.G1159A:p.G387R,LIMCH1:NM_001330791:exon12:c.G1636A:p.G546R,LIMCH1:NM_001330792:exon12:c.G1636A:p.G546R,LIMCH1:NM_001112717:exon13:c.G1672A:p.G558R,LIMCH1:NM_001112718:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330784:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330787:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330788:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330789:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330790:exon13:c.G1672A:p.G558R,LIMCH1:NM_014988:exon13:c.G1672A:p.G558R,LIMCH1:NM_001330672:exon18:c.G2827A:p.G943R	.	422	1098	1	1	0	3	0.00136426	.	.	.	3276871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0391547587976	.	.	0.0001	0	0	0	0	1.515e-05	0	0.0007	7.76e-05	12	154602	rs751602376	7.87e-05	7.935e-05	4.494e-05	0.0001	0.0010	6.669e-05	6.203e-05	0.0007	0.0006	2.988e-05	0	0	2.519e-05	3.747e-05	0.0010	2.609e-05	4.969e-05	0.0008	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.78490	D	0.028	0.63109	D	0.997	0.90584	D	0.897	0.97372	P	0.000001	0.84330	D	0.056326	0.999995	0.58761	D	1.975	0.53506	M	0.49	0.56609	T	-3.27	0.67589	D	0.547	0.75101	-0.4540	0.70268	T	0.339	0.70510	T	10	0.17807707	0.32875	T	0.039155	0.58646	D	0.200	0.48430	0.187	0.09646	0.198222871337	0.19423	0.45358175379797555	0.45276	0.671166192088	0.59450	0.623985290527	0.56292	T	0.076044	0.45289	T	-0.30827	0.07901	T	-0.288389	0.45940	T	0.543435394763947	0.34232	D	0.976902	0.91973	D	0.5041879	0.67340	0.63846034	0.78885	0.5041879	0.67341	0.63846034	0.78885	-12.349	0.89168	D	.	.	0.387	0.64090	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.564664	0.71961	25.8	0.99934746786061857	0.99535	0.99105	0.91299	D	AEFBI	0.842980	0.76004	D	0.740864468224553	0.82308	7.730865	0.759247443481654	0.86847	9.022111	0.999999999989784	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.93	5.93	0.95888	5.536000	0.66891	8.443000	0.77200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.354	0.98826	725	0.54935	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	543.33	33	chr4	41650399	.	G	A	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=669;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.988;SOR=0.299	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr4	41650504	41650504	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon7:c.G1279A:p.E427K,LIMCH1:NM_001330674:exon7:c.G1279A:p.E427K,LIMCH1:NM_001112719:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330793:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330982:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330983:exon8:c.G1315A:p.E439K,LIMCH1:NM_001330786:exon10:c.G1300A:p.E434K,LIMCH1:NM_001289122:exon12:c.G1741A:p.E581K,LIMCH1:NM_001289124:exon12:c.G1264A:p.E422K,LIMCH1:NM_001330791:exon12:c.G1741A:p.E581K,LIMCH1:NM_001330792:exon12:c.G1741A:p.E581K,LIMCH1:NM_001112717:exon13:c.G1777A:p.E593K,LIMCH1:NM_001112718:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330784:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330787:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330788:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330789:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330790:exon13:c.G1777A:p.E593K,LIMCH1:NM_014988:exon13:c.G1777A:p.E593K,LIMCH1:NM_001330672:exon18:c.G2932A:p.E978K	.	435	1085	2	0	0	2	0.00092081	.	.	.	2393742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.0152398181561	0.0017	0.00139776	0.0013	0.0005	0.0017	0	0.0005	0.0020	0.0011	6.098e-05	0.0014942	231	154602	rs147874816	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0004	0.0016	0.0010	0	0.0009	0.0010	0.0021	0.0016	3.478e-05	0.0013	0.0013	0.0015	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0002	0	0.0014	0.0009	0	0.0012	0	0.0022	0.0009	0	0.006	0.72154	D	0.341	0.29843	T	0.591	0.73220	P	0.312	0.79672	B	0.011462	0.29519	N	0.358823	0.997921	0.46608	D	1.995	0.54099	M	0.71	0.54347	T	-1.19	0.31576	N	0.403	0.59138	-0.5994	0.64842	T	0.268	0.63929	T	10	0.009541601	0.00215	T	0.01524	0.35857	T	0.136	0.36778	.	.	0.176862962021	0.17281	0.3495538446483543	0.34869	0.243072088921	0.26815	0.552832722664	0.46258	T	0.00342	0.13121	T	-0.327578	0.06297	T	-0.249178	0.49897	T	0.0167246995007057	0.00429	T	0.987301	0.95681	D	0.26577258	0.49647	0.19630434	0.43354	0.26577258	0.49646	0.19630434	0.43353	-6.614	0.59049	T	.	.	0.210	0.61254	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.890441	0.80292	27.3	0.99933985731639574	0.99535	0.98354	0.81929	D	AEFBI	0.761539	0.69922	D	0.634181752170145	0.75347	6.29015	0.647634485476778	0.78435	6.875635	0.999999996081647	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.11	5.11	0.69188	6.570000	0.73886	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.089	0.93200	725	0.54935	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1423.33	109	chr4	41650504	.	G	A	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.604;DP=746;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.039;SOR=1.014	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr4	42038989	42038989	C	T	exonic	SLC30A9	.	nonsynonymous SNV	SLC30A9:NM_006345:exon8:c.C673T:p.R225C	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0492596109138	.	.	4.126e-05	9.792e-05	8.645e-05	0.0001	0	2.997e-05	0	0	3.23e-05	5	154602	rs767513447	4.863e-05	4.857e-05	4.907e-05	4.819e-05	0.0009	3.931e-05	3.609e-05	0.0003	0.0002	0.0003	0	0	2.524e-05	0	0.0009	3.151e-05	0.0001	0.0001	9.852e-05	9.844e-05	7.711e-05	0.0001	0.0002	6.004e-05	4.878e-05	0.0001	8.435e-05	0.0002	0.0011	0	0	0.0002	0	0	5.88e-05	0	0	0.013	0.53900	D	0.056	0.46632	T	0.998	0.73220	D	0.793	0.57829	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	0.48	0.55945	T	-2.03	0.46673	N	0.722	0.72388	-0.7724	0.56725	T	0.197	0.55158	T	10	0.7129765	0.73164	D	0.04926	0.63737	D	0.212	0.50341	.	.	0.62662319709	0.62357	0.7190780441153988	0.71850	1.25389219787	0.81868	0.632397472858	0.57486	T	0.073277	0.34659	T	-0.108588	0.35002	T	-0.0397219	0.67720	D	0.456967532634735	0.31054	T	0.972903	0.90223	D	0.20869042	0.43114	0.1144018	0.27615	0.20869042	0.43113	0.1144018	0.27614	-8.686	0.65654	D	.	.	0.198	0.42022	B	.	.	5.417055	0.90648	31	0.99920396841141101	0.98721	0.97516	0.75258	D	AEFBI	0.724061	0.67348	D	0.471842937840319	0.65452	4.824368	0.465866392713456	0.65742	4.862403	0.645295702827718	0.22097	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	5.37	5.37	0.76949	4.718000	0.61621	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	14.492	0.67241	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	136.33	36	chr4	42038989	.	C	T	136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.99;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-1.246;SOR=0.467	GT:AD:DP:GQ:PL	0/1:21,9:30:99:150,0,534	18	0	1	0
chr4	42117567	42117567	G	C	exonic	BEND4	.	nonsynonymous SNV	BEND4:NM_207406:exon6:c.C1556G:p.S519C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0107	0.0091853	0.0034	0.0403	0.0014	0.0001	0	3.624e-05	0.0026	0	0.0027361	423	154602	rs115434634	0.0011	0.0011	0.0012	0.0009	0.0373	0.0010	0.0010	0.0356	0.0349	0.0373	0.0014	0	5.039e-05	0	0.0016	4.588e-05	0.0030	4.658e-05	0.0093	0.0093	0.0101	0.0085	0.0325	0.0089	0.0087	0.0311	0.0305	0.0325	0	0.0029	0	0	0	0	0.0001	0.0057	0.0002	0.102	0.30235	T	0.152	0.33442	T	0.013	0.16609	B	0.005	0.11217	B	0.000319	0.45977	D	0.152670	0.999994	0.81001	D	0.695	0.17993	N	.	.	.	-1.91	0.44471	N	0.358	0.39962	-1.0833	0.06720	T	0.034	0.14421	T	9	0.0051650703	0.00112	T	.	.	.	0.135	0.36572	.	.	0.043077524339	0.03247	0.7696006369709365	0.76909	0.430129123166	0.43274	0.570287466049	0.48719	T	0.028501	0.22281	T	-0.422887	0.01640	T	-0.354462	0.38692	T	0.0334487341691676	0.02546	T	0.713629	0.32527	T	0.101178005	0.23898	0.073695354	0.16044	0.101178005	0.23898	0.073695354	0.16044	-5.808	0.44644	T	.	.	0.095	0.15070	B	.;.	.;.	3.382167	0.46789	22.4	0.80629692166054356	0.13294	0.98632	0.84926	D	AEFBI	0.778982	0.71132	D	-0.100616150616426	0.37366	2.172887	0.0775648553806809	0.43424	2.644332	0.999967116017656	0.48965	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.177000	0.77194	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:0.141:0.859:0.0	15.125	0.72155	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.009511	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	995.33	34	chr4	42117567	.	G	C	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.107;DP=719;ExcessHet=0;FS=4.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.366;SOR=0.36	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1222	18	0	1	0
chr4	42893538	42893538	G	T	exonic	GRXCR1	.	nonsynonymous SNV	GRXCR1:NM_001080476:exon1:c.G272T:p.G91V	Deafness, autosomal recessive 25, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	173952	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_25|GRXCR1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00790688067224	0.0030	0.00279553	0.0051	0.0006	0.0017	0	0.0047	0.0061	0.0067	0.0087	0.0046118	713	154602	rs113203706	0.0045	0.0045	0.0042	0.0047	0.0109	0.0044	0.0044	0.0088	0.0080	0.0006	0.0028	0.0073	0	0.0043	0.0109	0.0044	0.0060	0.0082	0.0036	0.0036	0.0032	0.0040	0.0081	0.0033	0.0032	0.0061	0.0054	0.0008	0	0.0050	0.0084	0	0.0042	0.0102	0.0045	0.0028	0.0081	0.338	0.12796	T	0.42	0.14116	T	0.0	0.02946	B	0.001	0.04355	B	0.403506	0.13093	U	0.720289	0.999536	0.21028	N	0.895	0.22405	L	1.3	0.35590	T	-0.38	0.13418	N	0.186	0.20262	-1.0024	0.29226	T	0.074	0.30023	T	10	0.0068248212	0.00155	T	0.007907	0.20981	T	0.051	0.14325	.	.	0.21279746466	0.20884	0.7023987737389568	0.70180	0.0404129470778	0.04329	0.296552926302	0.09888	T	0.050399	0.28584	T	-0.606851	0.00132	T	-0.63949	0.09707	T	0.00404222462554798	0.00043	T	0.439856	0.12136	T	0.046149485	0.07674	0.058396593	0.10783	0.046149485	0.07674	0.058396593	0.10783	-2.956	0.09715	T	0.08242776387436643	0.04353	0.078	0.06896	B	.	.	0.665606	0.10342	7.069	0.92353461990523522	0.21755	0.43834	0.27185	N	AEFBI	0.122321	0.23741	N	-0.826282496098781	0.12641	0.6174501	-0.728622397824168	0.16250	0.8587279	1.33142710868807E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	1.06	0.19341	1.797000	0.38438	2.110000	0.30654	-0.816000	0.03012	0.965000	0.33920	0.980000	0.30356	0.780000	0.36908	0.0:0.4097:0.3797:0.2106	11.372	0.48947	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.010870	0.014620	0.000000	0.025862	0.030488	0.018939	0.02632	2523.33	43	chr4	42893538	.	G	T	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=877;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.055;SOR=0.551	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr4	47554735	47554735	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon11:c.G1645A:p.V549M	.	433	1087	1	1	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0438153168538	0.0002	0.00119808	0.0008	9.651e-05	8.643e-05	0.0002	0	0.0002	0.0011	0.0048	0.0006727	104	154602	rs187144508	0.0005	0.0005	0.0004	0.0005	0.0041	0.0004	0.0004	0.0037	0.0036	3.002e-05	0.0003	3.857e-05	0.0001	1.877e-05	0.0014	0.0002	0.0005	0.0041	0.0005	0.0005	0.0004	0.0007	0.0054	0.0005	0.0004	0.0038	0.0032	4.814e-05	0	0.0024	0.0003	0.0002	0	0	0.0002	0.0005	0.0054	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.000000	0.945594	0.37494	D	2.855	0.82945	M	-0.22	0.66474	T	-2.59	0.55821	D	0.499	0.53181	-0.0619	0.80952	T	0.465	0.79312	T	10	0.011291802	0.00248	T	0.043815	0.61176	D	0.200	0.48430	.	.	0.824951134962	0.82329	0.526525312139087	0.52576	0.607774058687	0.55580	0.745488882065	0.73780	T	0.047249	0.27667	T	-0.237286	0.15696	T	-0.114142	0.62280	T	0.105769948738912	0.12980	T	0.921408	0.71494	D	0.40112737	0.60811	0.34021607	0.59777	0.40112737	0.60811	0.34021607	0.59776	-5.549	0.42324	T	.	.	0.741	0.74689	P	.	.	5.405432	0.90499	31	0.99875598868682602	0.95244	0.97733	0.76740	D	AEFBI	0.704288	0.66005	D	0.688522795572477	0.78882	6.961541	0.638022707842697	0.77720	6.734275	0.999999995484228	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.19	5.19	0.71428	5.762000	0.68459	11.693000	0.94385	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	18.088	0.89391	494	0.76445	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1789.33	36	chr4	47554735	.	G	A	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=771;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.496;SOR=0.873	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr4	47576863	47576863	C	T	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon19:c.C3457T:p.L1153F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.136499709424	0.0002	0.000199681	6.589e-05	0	8.637e-05	0	0	8.99e-05	0	6.056e-05	5.82e-05	9	154602	rs145477523	3.352e-05	3.352e-05	2.586e-05	4.125e-05	0.0024	2.566e-05	2.312e-05	0.0015	0.0012	5.974e-05	6.708e-05	0	0	0	0.0024	1.978e-05	8.279e-05	3.478e-05	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0004	3.514e-05	2.614e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0.0034	2.94e-05	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999407	0.46935	D	3.275	0.90144	M	-2.99	0.92108	D	-3.71	0.70674	D	0.81	0.80572	0.985	0.96945	D	0.892	0.96431	D	10	0.8348561	0.82643	D	0.137	0.81898	D	0.800	0.93464	.	.	0.957742206517	0.95729	0.46247105294128227	0.46165	0.63098757322	0.57071	0.635869979858	0.57978	T	0.034379	0.23298	T	0.143755	0.68681	D	0.150245	0.80200	D	0.830777656163627	0.48590	D	0.959904	0.84889	D	0.91366494	0.92639	0.8701889	0.92879	0.91366494	0.92640	0.8701889	0.92879	-10.754	0.78291	D	.	.	0.537	0.66242	A	.	.	4.926220	0.81178	27.5	0.99904168342078314	0.97502	0.96434	0.69120	D	AEFDBI	0.634927	0.61462	D	0.867136880359975	0.90061	10.236	0.807844451860769	0.90333	10.35992	0.999999843306595	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	6.109000	0.71203	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.918	0.88874	466	0.78352	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2228.33	229	chr4	47576863	.	C	T	2228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=868;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=1.2;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr4	47582017	47582017	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon21:c.G3706A:p.A1236T	.	.	.	.	.	.	.	.	.	.	.	3479258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0245594493464	.	.	4.119e-05	0.0002	8.639e-05	0	0.0002	0	0	6.058e-05	3.23e-05	5	154602	rs762466294	1.915e-05	2.052e-05	1.634e-05	2.2e-05	0.0004	1.328e-05	1.144e-05	0.0003	0.0002	0.0004	0	0	0	0	0	4.497e-06	4.968e-05	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.58e-05	6.284e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0	0.0002	0.007	0.59928	D	0.013	0.63109	D	0.989	0.62824	D	0.626	0.51600	P	0.000206	0.47681	D	0.180867	0.725696	0.33664	D	2.795	0.81503	M	1.2	0.37405	T	-2.8	0.59226	D	0.586	0.60664	-0.8982	0.48175	T	0.133	0.44622	T	10	0.44291896	0.58215	T	0.024559	0.47547	T	0.121	0.33580	.	.	0.616482784632	0.61338	0.5572574411991288	0.55652	0.413043186575	0.42023	0.54797410965	0.45572	T	0.031291	0.21975	T	-0.20387	0.20249	T	-0.293953	0.45359	T	0.794006407260895	0.45952	D	0.832417	0.50060	T	0.30589142	0.53427	0.3164783	0.57628	0.30589142	0.53427	0.3164783	0.57627	-9.288	0.69532	D	.	.	0.141	0.30997	B	.	.	4.052935	0.60094	24.2	0.99872880393389973	0.94989	0.95129	0.63544	D	AEFBI	0.348946	0.44291	N	0.444270329178659	0.63879	4.630341	0.428385576785697	0.63340	4.565812	0.744003756277266	0.23256	0.67177	0.52595	0	0.653731	0.59785	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.01	4.16	0.48138	4.052000	0.57132	6.511000	0.55808	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.8471:0.1529	13.940	0.63557	466	0.78352	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	35	chr4	47582017	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.007;DP=837;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=2.29;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1413	18	0	1	0
chr4	47595861	47595861	G	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon20:c.C2677T:p.R893W,CORIN:NM_006587:exon22:c.C2989T:p.R997W	Preeclampsia/eclampsia 5	0	1520	2	0	0	2	0.000657462	.	.	.	2390375	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.0535100107136	0.0002	.	0.0002	0.0002	0.0002	0	0	0.0002	0.0022	6.161e-05	0.0001294	20	154602	rs149439710	8.624e-05	8.687e-05	8.172e-05	9.081e-05	0.0007	7.357e-05	6.907e-05	0.0002	0.0001	0.0001	6.739e-05	0	0	1.873e-05	0.0007	8.545e-05	0.0002	5.805e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.751e-05	3.762e-05	2.575e-05	9.657e-05	0	0.0001	0	0.0002	0	0.0032	8.82e-05	0.0010	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.606	0.50970	P	0.164147	0.17570	N	0.561258	0.929095	0.36915	D	3.565	0.93411	H	0.07	0.61677	T	-4.59	0.79399	D	0.253	0.54584	-0.0314	0.81601	T	0.417	0.76319	T	10	0.52224123	0.62709	D	0.05351	0.65498	D	0.471	0.76487	.	.	0.889421573989	0.88833	0.5917960218951737	0.59109	0.298534013486	0.32233	0.325806677341	0.14300	T	0.845664	0.96440	D	-0.170657	0.25134	T	-0.203479	0.54316	T	0.755568981170654	0.43598	D	0.893711	0.63166	D	0.3345977	0.55845	0.43498653	0.67000	0.3345977	0.55845	0.43498653	0.67000	-10.016	0.74008	D	.	.	0.102	0.20391	B	.;.;.;.;.	.;.;.;.;.	4.876990	0.79954	27.2	0.99907720885646478	0.97801	0.98153	0.80057	D	AEFBI	0.827656	0.74690	D	0.534845174254072	0.69167	5.318449	0.435105053787648	0.63768	4.617078	0.998593647188108	0.37268	0.487112	0.14033	0	0.446627	0.06534	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.2	4.35	0.51454	5.347000	0.65768	8.544000	0.77503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.1474:0.8526:0.0	14.432	0.66833	457	0.78953	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	642.33	33	chr4	47595861	.	G	A	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.595;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-1.07;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1131	18	0	1	0
chr4	47643167	47643167	T	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon13:c.A1735T:p.S579C,CORIN:NM_001278586:exon14:c.A1936T:p.S646C,CORIN:NM_006587:exon15:c.A2047T:p.S683C	Preeclampsia/eclampsia 5	0	1483	37	2	0	41	0.0136349	.	.	.	799358	Preeclampsia/eclampsia_5|not_provided	MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.617	.	0.0024	0.00219649	0.0034	0.0005	0.0009	0.0001	0.0005	0.0027	0.0022	0.0125	0.0032212	498	154602	rs144722161	0.0041	0.0041	0.0039	0.0044	0.0125	0.0040	0.0040	0.0118	0.0116	0.0005	0.0019	0.0008	5.039e-05	0.0005	0.0092	0.0040	0.0042	0.0125	0.0025	0.0025	0.0025	0.0024	0.0098	0.0023	0.0022	0.0075	0.0067	0.0005	0	0.0036	0.0020	0	0.0003	0	0.0034	0.0043	0.0098	0.006	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.907	0.64423	P	0.007021	0.31644	N	0.371645	0.658238	0.38702	D	2.15	0.60148	M	-3.74	0.95493	D	-3.18	0.65397	D	0.531	0.57946	1.012	0.97389	D	0.891	0.96372	D	10	0.016170084	0.00340	T	.	.	.	0.617	0.85091	.	.	0.996126483672	0.99608	0.7308779753318358	0.73032	0.328817197517	0.34999	0.361546814442	0.19611	T	0.899451	0.98017	D	-0.183371	0.23234	T	-0.0251445	0.68690	D	0.0260425943509535	0.01412	T	0.837116	0.85735	T	0.14758348	0.33732	0.14285788	0.33971	0.16320157	0.36445	0.13279083	0.31855	-12.92	0.89031	D	.	.	0.239	0.53095	B	.;.;.;.;.;.	.;.;.;.;.;.	3.595535	0.50762	23.0	0.97281230887779913	0.33186	0.85771	0.44941	D	ALL	0.551415	0.56349	D	0.255324982985495	0.53902	3.557323	0.164724902045148	0.47928	3.015752	0.999995407326078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	2.6	0.30173	2.896000	0.48355	0.002000	0.13306	-0.120000	0.14102	1.000000	0.71638	0.953000	0.29079	0.065000	0.16320	0.0:0.2528:0.0:0.7472	8.967	0.35042	417	0.81662	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.010870	0.020468	0.000000	0.000000	0.006098	0.007576	0.02632	2514.33	33	chr4	47643167	.	T	A	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=780;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=1.05;SOR=0.53	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	18	0	1	0
chr4	48025161	48025161	C	T	exonic	NIPAL1	.	nonsynonymous SNV	NIPAL1:NM_207330:exon2:c.C140T:p.T47M	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0345355420849	0.0002	0.000798722	0.0005	0	0	0	0	0.0003	0	0.0024	0.0004463	69	154602	rs182626350	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	8.961e-05	8.944e-05	0	5.038e-05	3.744e-05	0.0017	0.0004	0.0005	0.0020	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0.0034	0.0005	0.0005	0.0021	0.058	0.37750	T	0.161	0.31326	T	0.007	0.14184	B	0.002	0.06944	B	0.179112	0.03168	N	1.586980	1	0.08975	N	0.55	0.14455	N	-2.7	0.90509	D	-0.61	0.24676	N	0.141	0.14054	-0.6194	0.64014	T	0.473	0.79753	T	10	0.0051031113	0.00110	T	0.034536	0.55743	D	0.172	0.43662	.	.	0.152612264143	0.14878	0.3749197183118375	0.37405	0.0756700949329	0.08493	0.217750996351	0.01184	T	0.037765	0.24597	T	-0.461658	0.00960	T	-0.442084	0.28576	T	0.0129343451459318	0.00223	T	0.607939	0.22935	T	0.011868842	0.00023	0.027589273	0.00923	0.011868842	0.00023	0.027589273	0.00923	-5.694	0.43640	T	.	.	0.077	0.11461	B	.;.	.;.	-0.211857	0.03032	0.464	0.79939718984165997	0.12970	0.05274	0.11115	N	AEFDGBIJ	0.115107	0.22645	N	-1.10966237540556	0.06471	0.2979528	-1.10204743259165	0.07661	0.3735329	0.999989403966583	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.699875	0.68795	0	.	.	4.5	-1.03	0.09586	-0.690000	0.05240	-2.139000	0.04155	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.910000	0.44547	0.3025:0.2451:0.2651:0.1873	0.683	0.00823	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	2009.33	34	chr4	48025161	.	C	T	2009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=782;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=3.44;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr4	48113296	48113296	G	C	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon3:c.C85G:p.Q29E	.	.	.	.	.	.	.	.	.	.	.	3493110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0332963934349	7.7e-05	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs140295228	7.561e-06	7.525e-06	9.574e-06	5.527e-06	0.0003	4.06e-06	2.97e-06	0.0001	0.0001	0.0003	0	0	0	0	0	9.032e-07	1.666e-05	0	8.547e-05	8.538e-05	7.712e-05	9.42e-05	0.0003	4.96e-05	3.965e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.017	0.63226	D	0.533	0.10000	T	0.009	0.35719	B	0.011	0.26280	B	0.055809	0.22612	N	0.391554	0.962592	0.26060	N	2.125	0.59049	M	-0.77	0.73523	T	-0.55	0.26200	N	0.195	0.21449	-0.7445	0.58221	T	0.217	0.57889	T	10	0.12290892	0.23323	T	0.033296	0.54882	D	0.041	0.10877	.	.	0.797588359348	0.79570	0.5996215912523966	0.59893	0.160688802949	0.18139	0.350619077682	0.18012	T	0.114302	0.43201	T	-0.218278	0.18229	T	-0.314649	0.43157	T	0.117718040334648	0.14205	T	0.622038	0.23930	T	0.1147071	0.27077	0.15556045	0.36459	0.1147071	0.27077	0.15556045	0.36458	-2.743	0.07671	T	.	.	0.069	0.03849	B	.;.	.;.	2.191990	0.27947	17.63	0.97074304105902753	0.32251	0.73798	0.36097	D	AEFBI	0.152004	0.27660	N	-0.273353923774653	0.30181	1.680475	-0.165054251540235	0.32833	1.871911	0.991912385030531	0.32653	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.03	4.17	0.48303	1.796000	0.38428	7.281000	0.58022	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.300000	0.24500	0.0:0.1862:0.8138:0.0	11.135	0.47594	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	739.33	39	chr4	48113296	.	G	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=775;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.537;SOR=0.569	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	18	0	1	0
chr4	48383782	48383782	C	T	exonic	SLAIN2	.	nonsynonymous SNV	SLAIN2:NM_020846:exon6:c.C1358T:p.A453V	.	.	.	.	.	.	.	.	0.9981	0.728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00385084959639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408138575	2.057e-06	2.052e-06	1.364e-06	2.757e-06	2.249e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.249e-05	0	0	0	0	1.802e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.39	0.49117	T	1.0	0.47097	T	0.827	0.45966	P	0.602	0.50862	P	0.567925	0.11268	N	0.790707	1	0.81001	D	2.045	0.56016	M	.	.	.	-1.19	0.37955	N	0.666	0.71055	-0.6385	0.63209	T	0.311	0.68148	T	9	0.44719014	0.58847	T	0.003851	0.09024	T	0.159	0.41286	0.119	0.02647	0.147330786459	0.14319	0.4439799137894684	0.44315	0.207573174993	0.23217	0.772384166718	0.77782	T	0.034586	0.23382	T	0.0652377	0.60263	T	-0.144067	0.59765	T	0.890801966190338	0.54167	D	0.849515	0.53247	T	0.16303176	0.36418	0.108390816	0.26108	0.16303176	0.36418	0.108390816	0.26107	-6.648	0.51418	T	.	.	0.145	0.31906	B	.;.	.;.	4.918445	0.80991	27.4	0.99687801005091159	0.79708	0.99546	0.97297	D	AEFGBI	0.817841	0.73924	D	0.49775580512176	0.66957	5.018142	0.544514710159294	0.71018	5.591148	0.999999999963246	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	7.012000	0.76110	7.635000	0.62917	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.912	0.92461	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	33	chr4	48383782	.	C	T	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.313;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr4	48483578	48483578	A	G	exonic	SLC10A4	.	nonsynonymous SNV	SLC10A4:NM_152679:exon1:c.A17G:p.N6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.068626441312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.808	0.45299	P	0.084	0.29270	B	0.072816	0.02269	N	2.041000	0.999999	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-0.22	0.10480	N	0.184	0.19995	-0.9684	0.37530	T	0.022	0.09193	T	10	0.13664284	0.25996	T	0.068626	0.70502	D	0.106	0.30130	0.165	0.06955	0.0138822411134	0.00435	0.15320566409257572	0.15242	1.40337824593	0.85250	0.774938344955	0.78165	T	0.004944	0.04364	T	-0.248386	0.14297	T	-0.594566	0.13272	T	0.514887442453497	0.33177	D	0.629237	0.24427	T	0.18062896	0.39193	0.17880061	0.40572	0.18062896	0.39193	0.17880061	0.40571	-2.905	0.09193	T	.	.	0.067	0.02399	B	.	.	2.915662	0.38689	20.8	0.99451881720422675	0.65325	0.72870	0.35654	D	AEFDBHCI	0.081397	0.16469	N	-0.161335918926053	0.34753	1.987576	-0.163086454368273	0.32907	1.876937	0.999999999225489	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.87	3.87	0.43823	1.635000	0.36747	3.888000	0.40278	0.579000	0.29447	0.915000	0.31815	0.999000	0.35428	0.188000	0.21541	1.0:0.0:0.0:0.0	10.972	0.46658	211	0.91797	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	970.33	106	chr4	48483578	.	A	G	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=746;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.455;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	18	0	1	0
chr4	48553248	48553248	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon36:c.A4402G:p.T1468A	.	435	1057	30	0	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0004	0.00159744	0.0038	0.0002	0.0009	0	0.0057	0.0011	0.0056	0.0202	0.0032147	497	154602	rs201826654	0.0022	0.0022	0.0016	0.0028	0.0198	0.0021	0.0021	0.0190	0.0187	0.0003	0.0005	0.0009	5.04e-05	0.0079	0.0092	0.0007	0.0021	0.0198	0.0016	0.0016	0.0011	0.0021	0.0126	0.0014	0.0014	0.0101	0.0092	0.0002	0	0.0007	0	0	0.0094	0.0034	0.0009	0.0009	0.0126	0.164	0.23360	T	0.253	0.23501	T	0.092	0.59044	B	0.065	0.72923	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.9	0.44461	T	-2.49	0.54217	N	0.491	0.52918	-0.9071	0.47203	T	0.185	0.53481	T	10	0.008763969	0.00198	T	.	.	.	0.180	0.45073	.	.	0.354648800996	0.35079	0.5675465522245963	0.56682	0.387626592147	0.40038	0.555667221546	0.46655	T	0.230074	0.59606	T	-0.219986	0.17994	T	-0.072514	0.65446	T	0.0774891752752781	0.09663	T	0.856014	0.54441	D	0.093174316	0.21878	0.14065778	0.33522	0.093174316	0.21878	0.14065778	0.33521	-3.88	0.22002	T	.	.	0.091	0.16538	B	.;.;.	.;.;.	3.154228	0.42713	21.6	0.98891657941019728	0.48019	0.96157	0.67794	D	AEFDBI	0.641293	0.61868	D	0.295643881416598	0.55927	3.756885	0.405890105144516	0.61932	4.400382	0.999999999901362	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.930000	0.69823	2.843000	0.35092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	16.609	0.84711	130	0.94779	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.004076	0.008772	0.000000	0.008621	0.015244	0.037879	0.02632	595.33	49	chr4	48553248	.	T	C	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.23;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	18	0	1	0
chr4	48594018	48594018	T	-	splicing	FRYL	NM_015030:exon16:c.1249-2A>-	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0008	0	0	0	0	0.0059	3.84e-05	1	26028	rs773912160	0.0003	0.0003	0.0002	0.0004	0.0051	0.0003	0.0002	0.0047	0.0045	0	0	0	0	0	0.0007	0	0.0004	0.0051	0.0001	0.0001	0.0001	0.0001	0.0040	8.269e-05	6.808e-05	0.0026	0.0022	0	0	0	0	0	0	0	0	0	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	473.3	12	chr4	48594017	.	CT	C	473.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.921;DP=530;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-1.796;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,862	18	0	1	0
chr4	51994584	51994584	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2438T:p.P813L	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00747068174486	8.3e-05	0.00119808	0.0007	0	8.657e-05	0	0	0.0003	0	0.004	0.0006209	96	154602	rs201852965	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	2.987e-05	0.0001	0.0016	2.52e-05	0	0.0023	7.014e-05	0.0005	0.0043	0.0003	0.0003	0.0002	0.0003	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0001	0.0023	0	0	0.0034	0.0001	0.0009	0.0046	0.542	0.06757	T	0.575	0.08654	T	0.197	0.29559	B	0.052	0.25551	B	0.968726	0.08174	N	0.983285	1	0.08975	N	1.65	0.42232	L	1.58	0.29085	T	-2.07	0.47344	N	0.053	0.02462	-0.9894	0.32753	T	0.035	0.14900	T	10	0.0047828853	0.00101	T	0.007471	0.19819	T	0.107	0.30369	.	.	0.154104182512	0.14974	0.03317373347038634	0.03265	0.0439505018323	0.04735	0.272894084454	0.06521	T	0.007813	0.07192	T	-0.640599	0.00083	T	-0.69296	0.06219	T	0.0188849794227172	0.00598	T	0.570643	0.20320	T	0.017936166	0.00316	0.037262455	0.03343	0.017936166	0.00316	0.037262455	0.03342	-3.237	0.12938	T	.	.	0.078	0.06990	B	.	.	0.655049	0.10233	6.972	0.53703547576644117	0.04992	0.03606	0.08836	N	AEFDBI	0.044990	0.07306	N	-0.9850956713548	0.08921	0.4201849	-0.996025679668643	0.09874	0.493841	0.00363253125332423	0.10212	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.67	1.91	0.24841	0.495000	0.22191	0.190000	0.15733	-0.105000	0.15698	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2106:0.187:0.6024:0.0	4.407	0.10843	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	4307.83	33	chr4	51994584	.	G	A	4307.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=897;ExcessHet=0.119;FS=1.906;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.932;SOR=0.583	GT:AD:DP:GQ:PL	0/1:71,75:146:99:2095,0,1783	17	0	2	0
chr4	51995854	51995854	C	G	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.G1168C:p.A390P	.	426	1082	14	0	0	14	0.00642792	.	.	.	3287937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.317	0.0489062536069	0.0004	0.000199681	0.0004	0.0003	8.648e-05	0	0	0.0004	0.0011	0.0012	0.0003363	52	154602	rs202189181	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0014	0.0013	8.961e-05	0.0002	0	0	1.872e-05	0.0017	0.0003	0.0004	0.0016	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	7.228e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0009	0.0025	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000335	0.45700	D	0.000000	0.98466	0.40176	D	2.22	0.62911	M	0.78	0.49358	T	-2.75	0.58407	D	0.844	0.83987	-0.4920	0.68937	T	0.270	0.64162	T	10	0.2400125	0.41152	T	0.048906	0.63579	D	0.317	0.63904	.	.	0.27132560031	0.26736	0.7322897817850141	0.73173	0.227313501387	0.25282	0.613262951374	0.54777	T	0.149757	0.48891	T	-0.202809	0.20400	T	-0.0994754	0.63438	T	0.248084232211113	0.22787	T	0.756924	0.38041	T	0.84556854	0.87010	0.8276329	0.90031	0.84556854	0.87012	0.8276329	0.90031	-14.332	0.94086	D	.	.	0.906	0.83168	P	.	.	4.523784	0.70949	25.6	0.99743359568452372	0.83703	0.92795	0.56564	D	AEFDBIJ	0.713108	0.66601	D	0.502420426076887	0.67234	5.054368	0.413809405560411	0.62423	4.457548	0.999995936501234	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.67	4.67	0.58089	4.772000	0.62019	7.568000	0.60641	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:1.0:0.0:0.0	14.651	0.68399	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.05263	6060.81	33	chr4	51995854	.	C	G	6060.81	.	AC=2;AF=0.053;AN=38;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.9;SOR=0.95	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,101,1462	18	1	0	0
chr4	52003360	52003360	C	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon3:c.G529A:p.D177N	.	436	1072	12	2	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0034	0.00419329	0.0027	0.0032	0.0012	0	0	0.0025	0.0033	0.0064	0.0025485	394	154602	rs201458130	0.0027	0.0027	0.0026	0.0028	0.0094	0.0026	0.0026	0.0074	0.0067	0.0035	0.0011	0.0032	2.522e-05	0.0003	0.0094	0.0027	0.0032	0.0052	0.0027	0.0027	0.0027	0.0026	0.0056	0.0025	0.0024	0.0040	0.0034	0.0039	0	0.0011	0.0037	0	0.0002	0.0136	0.0027	0.0009	0.0056	0.041	0.41915	D	0.022	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.000122	0.49741	D	0.000000	0.515536	0.31612	N	0.57	0.15267	N	0.61	0.53516	T	-2.68	0.57275	D	0.545	0.57177	-0.5899	0.65225	T	0.220	0.58345	T	10	0.019667894	0.00442	T	.	.	.	0.241	0.54641	.	.	0.511390160789	0.50780	0.3034997321396087	0.30262	0.0326264065788	0.03409	0.430598884821	0.29290	T	0.04279	0.26296	T	-0.495597	0.00605	T	-0.482471	0.24184	T	0.0366639722523778	0.03096	T	0.664534	0.27348	T	0.13604422	0.31553	0.15992995	0.37274	0.13604422	0.31552	0.15992995	0.37273	-8.003	0.61091	D	.	.	0.329	0.55166	B	.	.	3.252113	0.44434	21.9	0.9987332423539661	0.95076	0.76175	0.37340	D	AEFI	0.186406	0.31372	N	0.530398310839928	0.68895	5.280777	0.518648303543165	0.69245	5.333094	0.133193826056292	0.17131	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	1.792000	0.38387	2.705000	0.34191	-0.823000	0.02940	1.000000	0.71638	1.000000	0.68203	0.444000	0.27761	0.0:0.8307:0.1693:0.0	12.342	0.54424	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.014946	0.020468	0.000000	0.017241	0.003049	0.015152	0.02632	638.33	35	chr4	52003360	.	C	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=2.05;SOR=0.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1135	18	0	1	0
chr4	52024120	52024120	G	A	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon6:c.C794T:p.T265I	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	266358	Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E|not_provided	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.312	0.0510429090072	0.0002	0.00159744	0.0001	0.0014	0	0	0	0	0	0	0.0001876	29	154602	rs116214830	5.131e-05	5.267e-05	4.901e-05	5.363e-05	0.0013	4.192e-05	3.823e-05	0.0010	0.0009	0.0013	0	0	0	0	0.0009	6.295e-06	0.0003	2.319e-05	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.285	0.21343	T	0.049	0.22227	B	0.14	0.33554	B	0.008581	0.30776	N	0.403711	0.951967	0.37763	D	1.355	0.33814	L	-2.38	0.88298	D	0.09	0.05917	N	0.18	0.19459	0.417	0.89353	D	0.748	0.91415	D	10	0.015626311	0.00328	T	0.051043	0.64497	D	0.312	0.63375	.	.	0.967687927552	0.96734	0.40271667531533534	0.40187	0.0779575711569	0.08777	0.440812587738	0.30688	T	0.540314	0.84249	D	-0.272724	0.11455	T	-0.210077	0.53690	T	0.158155686378565	0.17734	T	0.885211	0.61002	D	0.0595058	0.12101	0.084697574	0.19502	0.0595058	0.12100	0.084697574	0.19501	-6.008	0.46347	T	0.07645337768492003	0.03493	0.145	0.32030	B	.	.	3.179211	0.43146	21.7	0.91735849286671767	0.21034	0.99363	0.95047	D	AEFBI	0.861843	0.77999	D	-0.0420215702847208	0.39960	2.365044	0.0707083143562036	0.43082	2.61751	0.999999999987702	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.769000	0.98151	11.827000	0.97409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.0:0.0:1.0:0.0	18.618	0.91264	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1125.33	34	chr4	52024120	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.689;DP=713;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.836;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr4	52069832	52069832	C	T	exonic	SPATA18	.	nonsynonymous SNV	SPATA18:NM_145263:exon5:c.C434T:p.T145I	.	435	1076	9	2	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0042	0.00658946	0.0031	0.0082	0.0012	0	0	0.0024	0.0025	0.0074	0.0028913	447	154602	rs75140760	0.0027	0.0027	0.0027	0.0026	0.0094	0.0026	0.0026	0.0073	0.0066	0.0061	0.0011	0.0031	0	9.766e-05	0.0094	0.0026	0.0033	0.0050	0.0034	0.0034	0.0037	0.0032	0.0072	0.0032	0.0031	0.0065	0.0062	0.0072	0	0.0010	0.0038	0	0	0.0102	0.0024	0.0009	0.0050	0.007	0.59928	D	0.038	0.51421	D	0.763	0.43659	P	0.242	0.38699	B	0.039883	0.24120	N	0.485962	1	0.25126	N	2.75	0.80375	M	-2.29	0.87591	D	-3.41	0.67129	D	0.34	0.38129	-0.2051	0.77538	T	0.482	0.80200	T	10	0.0053586364	0.00118	T	.	.	.	0.276	0.59253	.	.	0.381916209588	0.37799	0.3734625913842404	0.37260	0.646300312645	0.58046	0.461537182331	0.33521	T	0.226349	0.59134	T	-0.280991	0.10563	T	-0.172256	0.57237	T	0.0325421131757819	0.02395	T	0.687331	0.29630	T	0.18186599	0.39378	0.21714179	0.46368	0.18186599	0.39377	0.21714179	0.46367	-5.648	0.43228	T	.	.	0.287	0.51942	B	.	.	2.860642	0.37796	20.6	0.99796162229774243	0.88106	0.48581	0.28239	N	AEFDI	0.058921	0.11091	N	0.180611444123017	0.50270	3.218527	0.193470663059481	0.49488	3.151401	0.0719091283349751	0.15583	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.67	4.81	0.61401	2.457000	0.44662	1.241000	0.25107	0.549000	0.26987	0.995000	0.38783	0.949000	0.28973	0.988000	0.63387	0.0:0.8263:0.1737:0.0	12.612	0.55913	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011593	0.005051	0.014946	0.023529	0.000000	0.017241	0.000000	0.011364	0.02632	649.33	34	chr4	52069832	.	C	T	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=674;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.496;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr4	52744235	52744235	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1286T:p.P429L,ERVMER34-1:NM_024534:exon4:c.C1286T:p.P429L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0019	0.0008	0.0065	0	0.1667	0.0023	0.0057	0.0017	0.0006533	101	154602	rs141114710	0.0047	0.0042	0.0050	0.0045	0.0172	0.0046	0.0045	0.0139	0.0128	0.0009	0.0022	0.0006	6.23e-05	0.0292	0.0172	0.0036	0.0051	0.0021	0.0049	0.0049	0.0038	0.0060	0.0033	0.0046	0.0045	0.0029	0.0028	0.0007	0.1286	0.0022	0.0012	0.0006	0.0296	0.0170	0.0033	0.0047	0.0015	.	.	.	0.0	0.92824	D	0.016	0.17332	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	0.0032551587	0.00056	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.671597211123151	0.67097	.	.	0.207218885422	0.00699	T	4.57E-4	0.00158	T	-0.595423	0.00155	T	-0.624335	0.10848	T	.	.	.	0.533547	0.17787	T	0.018549057	0.00377	0.049285304	0.07500	0.018549057	0.00376	0.049285304	0.07500	-0.845	0.00843	T	.	.	0.136	0.32202	B	.;.	.;.	-0.934741	0.00869	0.031	0.65350738182465162	0.07748	0.00688	0.02942	N	AEFBCI	0.039389	0.05713	N	.	.	.	.	.	.	0.0022410180715896	0.09253	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	2.06	-4.06	0.03718	-1.959000	0.01609	-3.025000	0.03129	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2758:0.34:0.2134:0.1708	0.807	0.01016	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019231	0.019231	0.000000	0.024691	0.000000	0.000000	0.013699	0.015625	0.02632	2153.33	183	chr4	52744235	.	G	A	2153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=973;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.51;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1420	18	0	1	0
chr4	52744727	52744727	G	C	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C794G:p.A265G,ERVMER34-1:NM_024534:exon4:c.C794G:p.A265G	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0179252434335	.	0.000399361	0.0012	0	0	0	0	0.0010	0	0.0018	0.000194	30	154602	rs553326506	0.0006	0.0006	0.0005	0.0008	0.0037	0.0006	0.0006	0.0027	0.0026	0	0.0003	0.0022	0	0	0.0037	0.0002	0.0008	0.0031	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0.0023	0	0	0	0.0002	0.0009	0.0039	.	.	.	.	.	.	0.95	0.53885	P	0.315	0.41566	B	.	.	.	.	0.999845	0.20103	N	0	0.06538	N	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.0057281256	0.00128	T	0.017925	0.39817	T	.	.	.	.	0.149567049428	0.14543	0.6156933799855586	0.61501	.	.	0.305978357792	0.11300	T	8.56E-4	0.00427	T	-0.58509	0.00179	T	-0.617521	0.11381	T	.	.	.	0.368563	0.08641	T	0.030713972	0.02783	0.07824576	0.17507	0.030713972	0.02782	0.07824576	0.17506	-2.697	0.07278	T	.	.	0.131	0.28261	B	.;.	.;.	0.583924	0.09523	6.301	0.99086121631450019	0.52100	0.06334	0.12331	N	AEFDBHCI	0.048291	0.08225	N	.	.	.	.	.	.	0.00154408687568162	0.08631	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.03	1.03	0.19161	-0.475000	0.06678	0.720000	0.21004	-0.289000	0.06313	0.001000	0.13787	0.008000	0.19753	0.160000	0.20649	0.0:0.0:1.0:0.0	5.414	0.15664	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001613	0.000000	0.000000	0.000000	0.000000	0.000000	0.014085	0.000000	0.02632	1748.33	39	chr4	52744727	.	G	C	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.995;DP=925;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.82;SOR=0.791	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1762,0,1847	18	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	202.35	101	chr4	53145477	.	T	C	202.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.909;DP=1495;ExcessHet=1.3;FS=119.723;InbreedingCoeff=-0.1484;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.495;SOR=10.505	GT:AD:DP:GQ:PL	0/1:92,21:113:19:19,0,2214	14	0	5	0
chr4	53496267	53496267	G	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon5:c.C818A:p.A273D,LNX1:NM_001126328:exon6:c.C1106A:p.A369D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00914292577376	0.0003	.	0.0003	9.612e-05	0.0002	0	0	0.0004	0	0.0001	0.0002911	45	154602	rs140440998	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0006	0.0008	0.0008	0.0001	0.0001	0	0	0	0	0.0009	0.0004	5.797e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	0.0004	0	0	0	0	0.0008	0	0	0.05	0.39575	D	0.19	0.28482	T	0.002	0.31443	B	0.004	0.30945	B	0.424687	0.12826	N	0.767856	1	0.08975	N	1.19	0.30124	L	3.08	0.08460	T	-0.62	0.18248	N	0.322	0.36254	-0.9334	0.43636	T	0.015	0.05897	T	10	0.035460234	0.01796	T	0.009143	0.24036	T	0.008	0.00669	.	.	0.257292322809	0.25322	0.313203023359007	0.31233	0.120997686537	0.13633	0.280162423849	0.07515	T	0.081195	0.36540	T	-0.611737	0.00124	T	-0.692027	0.06272	T	0.00969887567712645	0.00127	T	0.635136	0.24942	T	0.059750494	0.12180	0.072641075	0.15695	0.059750494	0.12180	0.072641075	0.15695	-2.343	0.04795	T	.	.	0.095	0.14979	B	.;.	.;.	0.022744	0.04442	1.169	0.71728149790942675	0.09728	0.13010	0.17611	N	AEFBI	0.200865	0.32756	N	-1.08506838442882	0.06918	0.3198348	-1.07688703909197	0.08156	0.3998202	0.995860267017163	0.34373	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.29	2.65	0.30588	0.342000	0.19669	1.610000	0.27630	-0.679000	0.04243	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1956:0.1142:0.6902:0.0	8.043	0.29692	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2886.33	44	chr4	53496267	.	G	T	2886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=955;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.547;SOR=0.873	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1518	18	0	1	0
chr4	54263765	54263765	G	A	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon4:c.G466A:p.E156K,PDGFRA:NM_001347829:exon4:c.G466A:p.E156K,PDGFRA:NM_001347830:exon4:c.G505A:p.E169K,PDGFRA:NM_006206:exon4:c.G466A:p.E156K,PDGFRA:NM_001347828:exon5:c.G541A:p.E181K	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	.	.	.	.	.	.	.	.	.	394377	not_provided|Hereditary_cancer-predisposing_syndrome|PDGFRA-related_disorder|Gastrointestinal_stromal_tumor	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00865720055286	.	.	0.0002	0	0.0009	0	0	5.994e-05	0	0.0008	0.0001746	27	154602	rs760631068	7.73e-05	7.798e-05	6.262e-05	9.213e-05	0.0008	6.533e-05	6.136e-05	0.0006	0.0006	2.987e-05	0.0006	0	2.519e-05	1.872e-05	0.0002	1.259e-05	6.623e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0010	8.174e-05	6.729e-05	0.0007	0.0005	0	0	0.0010	0	0	0	0	0	0.0005	0.0004	0.791	0.21224	T	0.69	0.27943	T	0.001	0.15535	B	0.001	0.12133	B	0.983834	0.08076	U	0.987864	1	0.08975	N	1.445	0.36358	L	1.76	0.32722	T	-0.63	0.18459	N	0.085	0.06587	-0.9878	0.33151	T	0.045	0.19518	T	10	0.014832288	0.00312	T	0.008657	0.22878	T	0.019	0.03383	0.391	0.41443	0.2338531098	0.23012	0.6030464888365247	0.60235	0.364123964793	0.38027	0.292812377214	0.09333	T	0.047079	0.27617	T	-0.578129	0.00198	T	-0.692374	0.06252	T	0.012592918795096	0.00210	T	0.735226	0.36032	T	0.04013194	0.05670	0.05756482	0.10487	0.04013194	0.05670	0.05756482	0.10486	-4.169	0.35168	T	.	.	0.064	0.03336	B	.;.;.;.	.;.;.;.	1.034731	0.14151	10.72	0.78978585744188612	0.12536	0.02995	0.07855	N	AEFDBIJ	0.082870	0.16784	N	-1.10280778133317	0.06593	0.3039381	-1.15415722853266	0.06693	0.3230525	0.99652693458894	0.34806	0.59774	0.34471	0	0.573888	0.26702	0	0.618467	0.43123	0	0.63947	0.58350	0	.	.	5.59	-2.17	0.06663	-0.168000	0.09914	0.479000	0.18787	-0.106000	0.15538	0.000000	0.06391	0.018000	0.20648	0.003000	0.05239	0.3301:0.3306:0.2595:0.0798	3.632	0.07678	470	0.78111	Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3296.33	282	chr4	54263765	.	G	A	3296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.717;DP=920;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.486;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	18	0	1	0
chr4	54264951	54264951	C	T	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon5:c.C661T:p.L221F,PDGFRA:NM_001347829:exon5:c.C661T:p.L221F,PDGFRA:NM_001347830:exon5:c.C700T:p.L234F,PDGFRA:NM_006206:exon5:c.C661T:p.L221F,PDGFRA:NM_001347828:exon6:c.C736T:p.L246F	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	0	1518	4	0	0	4	0.00131579	.	.	.	50240	Myeloproliferative_neoplasm,_unclassifiable|Hereditary_cancer-predisposing_syndrome|Idiopathic_hypereosinophilic_syndrome|not_specified|not_provided|Gastrointestinal_stromal_tumor	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011895,MedGen:C0206141,OMIM:607685,Orphanet:3260|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.213	0.031371869359	0.0033	0.00159744	0.0038	0.0010	0.0017	0	0.0023	0.0054	0.0022	0.0030	0.0037839	585	154602	rs139913632	0.0046	0.0046	0.0046	0.0046	0.0054	0.0045	0.0045	0.0053	0.0052	0.0007	0.0016	0.0002	0	0.0019	0.0012	0.0054	0.0036	0.0034	0.0030	0.0030	0.0031	0.0029	0.0053	0.0027	0.0027	0.0049	0.0047	0.0007	0	0.0016	0	0	0.0017	0	0.0053	0.0038	0.0025	0.053	0.38863	T	0.061	0.45530	T	0.251	0.31212	B	0.085	0.29395	B	0.270130	0.03767	U	1.838210	0.999998	0.08975	N	0.895	0.22405	L	-0.93	0.75215	T	-0.83	0.22727	N	0.173	0.18512	-0.6434	0.63000	T	0.271	0.64214	T	10	0.0056384206	0.00125	T	0.031372	0.53467	D	0.213	0.50496	.	.	0.436121992451	0.43229	0.5085610527658393	0.50778	0.448752929517	0.44691	0.289241403341	0.08812	T	0.111494	0.42703	T	-0.485534	0.00688	T	-0.46774	0.25760	T	0.0276726401299813	0.01641	T	0.823718	0.48487	T	0.14375366	0.33026	0.16961385	0.39009	0.10524847	0.24884	0.1830381	0.41267	-5.275	0.39695	T	.	.	0.088	0.11749	B	.	.	2.526043	0.32649	19.11	0.99416709306799655	0.63549	0.35744	0.25373	N	AEFBI	0.282753	0.39601	N	-0.349722166009919	0.27281	1.495586	-0.29657193508131	0.28210	1.57113	0.999384646998498	0.39415	0.59774	0.34471	0	0.588015	0.36545	0	0.573888	0.23631	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	0.908000	0.28167	1.836000	0.29152	0.549000	0.26987	0.000000	0.06391	0.004000	0.18990	0.098000	0.18187	0.0:0.8652:0.1348:0.0	17.459	0.87510	455	0.79073	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	1520.33	36	chr4	54264951	.	C	T	1520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=826;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.776;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	55098263	55098263	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon17:c.G2383A:p.G795R	Hemangioma, capillary infantile, somatic	1	1516	5	0	0	5	0.00164636	.	.	.	3275787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.469	0.0963481309283	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001617	25	154602	rs564385300	8.963e-05	8.961e-05	4.629e-05	0.0001	0.0015	7.691e-05	7.235e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	6.626e-05	0.0015	7.88e-05	7.874e-05	5.139e-05	0.0001	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	0	0	0	0	0	0	0.0102	0	0.0005	0.0017	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.95	0.75438	T	-2.32	0.51478	N	0.84	0.83576	0.032	0.82892	D	0.523	0.82221	D	10	0.0633387	0.08236	T	0.096348	0.76587	D	0.469	0.76355	0.401	0.43081	0.262679179196	0.25893	0.7449126424789095	0.74437	0.654282127672	0.58521	0.574513673782	0.49314	T	0.213664	0.57505	T	-0.119705	0.33173	T	0.0147419	0.71290	D	0.196136252728858	0.20199	T	0.941106	0.78031	D	0.38877383	0.59944	0.18680406	0.41876	0.43636373	0.63168	0.21629195	0.46250	-6.344	0.49071	T	.	.	0.135	0.29255	B	.;.	.;.	4.661327	0.74398	26.2	0.99912316947193025	0.98167	0.98282	0.81233	D	AEFBI	0.812409	0.73515	D	0.604506491562329	0.73457	5.969556	0.577606885735399	0.73338	5.954087	0.999998879015611	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	4.761000	0.61939	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.541000	0.29961	0.0:1.0:0.0:0.0	19.293	0.94097	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	762.33	33	chr4	55098263	.	C	T	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.167;DP=717;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.08;SOR=0.494	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1506	18	0	1	0
chr4	55110542	55110542	C	G	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon9:c.G1116C:p.E372D	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	138358	not_provided|not_specified|Capillary_infantile_hemangioma	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0065	0.00938498	0.0024	0.0264	0.0016	0	0	1.499e-05	0.0022	0	0.0023868	369	154602	rs113121239	0.0007	0.0007	0.0008	0.0006	0.0247	0.0007	0.0007	0.0233	0.0227	0.0247	0.0016	0.0003	0	0	0.0012	2.068e-05	0.0015	4.637e-05	0.0073	0.0074	0.0073	0.0074	0.0258	0.0070	0.0068	0.0246	0.0240	0.0258	0	0.0020	0.0003	0	0	0	7.354e-05	0.0038	0	0.323	0.13436	T	0.436	0.13480	T	0.507	0.37264	P	0.253	0.39112	B	0.000379	0.45194	D	0.229090	0.928012	0.27130	N	0.455	0.12820	N	-0.29	0.67712	T	-0.56	0.17003	N	0.138	0.13626	-1.0783	0.07681	T	0.050	0.21456	T	10	0.008658975	0.00196	T	.	.	.	0.119	0.33137	0.361	0.36548	0.179529687257	0.17594	0.5643161842732969	0.56358	0.220778280987	0.24628	0.345345556736	0.17234	T	0.109783	0.42395	T	-0.553527	0.00278	T	-0.548956	0.17426	T	0.0159067543627102	0.00375	T	0.586841	0.21439	T	0.24842724	0.47829	0.10006664	0.23914	0.19654086	0.41486	0.06541006	0.13252	-5.154	0.38470	T	.	.	0.088	0.11558	B	.;.	.;.	1.627941	0.20790	14.91	0.96627216239500302	0.30502	0.62637	0.31842	D	AEFBI	0.311597	0.41728	N	-0.366223506457476	0.26680	1.457968	-0.337733270602156	0.26891	1.488355	0.779189762472938	0.23809	0.722319	0.85440	0	0.573888	0.26702	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.65	1.48	0.21900	0.087000	0.14801	-0.194000	0.11009	0.595000	0.32841	0.960000	0.33603	0.281000	0.24108	0.404000	0.26872	0.2038:0.3897:0.1314:0.275	0.768	0.00953	715	0.56137	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2308.33	34	chr4	55110542	.	C	G	2308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=810;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.42;SOR=0.591	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1410	18	0	1	0
chr4	55896772	55896772	G	A	exonic	EXOC1	.	nonsynonymous SNV	EXOC1:NM_178237:exon15:c.G1964A:p.G655E,EXOC1:NM_001024924:exon16:c.G2009A:p.G670E,EXOC1:NM_018261:exon16:c.G2009A:p.G670E	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.936	0.0272040999366	0.0062	0.00159744	0.0057	0.0013	0.0061	0	0.0027	0.0086	0.0078	0.0003	0.0056856	879	154602	rs35001804	0.0069	0.0069	0.0072	0.0066	0.0080	0.0068	0.0067	0.0078	0.0078	0.0011	0.0049	0.0117	2.534e-05	0.0023	0.0044	0.0080	0.0078	0.0002	0.0052	0.0052	0.0055	0.0048	0.0077	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0067	0.0118	0	0.0029	0.0136	0.0077	0.0076	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.87	0.83286	M	.	.	.	-7.3	0.94484	D	0.903	0.97095	-0.0214	0.81810	T	0.460	0.79049	T	9	0.03697914	0.02025	T	0.027204	0.50045	D	0.936	0.98563	.	.	0.793516779621	0.79159	0.9374666276193575	0.93726	2.54581013605	0.97839	0.909251272678	0.97399	D	0.628712	0.88464	D	0.158454	0.70056	D	0.464227	0.93887	D	0.05916575930949	0.07036	T	0.906409	0.83962	D	0.90463	0.91800	0.9355433	0.97472	0.90463	0.91801	0.9355433	0.97473	-11.906	0.84389	D	.	.	0.992	0.95199	P	.;.;.	.;.;.	5.517226	0.91744	32	0.99789337086928076	0.87484	0.96623	0.70072	D	AEFDBHCI	0.906969	0.86041	D	0.965219935920319	0.94570	12.86222	0.94562689678313	0.97272	15.85492	0.99999998891459	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	20.336	0.98740	898	0.25240	Exocyst complex component Sec3, C-terminal;Exocyst complex component Sec3, C-terminal;Exocyst complex component Sec3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	703.33	33	chr4	55896772	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=691;ExcessHet=0;FS=2.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.595;SOR=0.977	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1260	18	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.02632	2145.29	37	chr4	55965812	.	AAAG	A	2145.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.091;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-0.969;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr4	56349860	56349860	C	T	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286670:exon8:c.G436A:p.V146I,AASDH:NM_001286668:exon10:c.G1591A:p.V531I,AASDH:NM_001286669:exon10:c.G1432A:p.V478I,AASDH:NM_001323893:exon10:c.G1432A:p.V478I,AASDH:NM_001323899:exon10:c.G760A:p.V254I,AASDH:NM_001286671:exon11:c.G1891A:p.V631I,AASDH:NM_001286672:exon11:c.G1891A:p.V631I,AASDH:NM_001323890:exon11:c.G1891A:p.V631I,AASDH:NM_001323892:exon11:c.G1891A:p.V631I,AASDH:NM_181806:exon11:c.G1891A:p.V631I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00350155773444	0.0008	0.00119808	0.0003	0.0038	8.642e-05	0	0	0	0	0	0.000304	47	154602	rs138653291	0.0001	0.0001	0.0001	7.15e-05	0.0039	8.982e-05	8.466e-05	0.0034	0.0032	0.0039	6.708e-05	0	0	0	0.0002	1.799e-06	0.0002	0	0.0012	0.0012	0.0012	0.0011	0.0042	0.0010	0.0010	0.0037	0.0035	0.0042	0	6.539e-05	0	0	0	0	0	0.0005	0.0002	0.208	0.22833	T	0.198	0.27767	T	0.011	0.15914	B	0.021	0.19346	B	0.025243	0.26121	N	0.476069	1	0.08975	N	0	0.06538	N	2.85	0.10578	T	0.43	0.03352	N	0.074	0.07125	-0.9517	0.40678	T	0.013	0.05273	T	10	0.005921066	0.00133	T	0.003502	0.07939	T	0.022	0.04323	.	.	0.222439326576	0.21863	0.12411389934469981	0.12337	0.0502657985	0.05517	0.469817638397	0.34654	T	0.006546	0.09475	T	-0.613682	0.00120	T	-0.654569	0.08636	T	0.016334244623476	0.00403	T	0.781822	0.45619	T	0.016746242	0.00219	0.03108297	0.01648	0.016746242	0.00218	0.03108297	0.01647	-2.667	0.07481	T	.	.	0.070	0.03443	B	.;.;.;.;.	.;.;.;.;.	1.917651	0.24354	16.37	0.90042163412538412	0.19329	0.68738	0.33916	D	AEFDBI	0.161564	0.28764	N	-0.814128748891403	0.12949	0.6345974	-0.680048677398246	0.17460	0.9285054	4.85066417153161E-4	0.07123	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.06	3.57	0.40014	3.279000	0.51374	7.040000	0.57333	-0.048000	0.17318	0.977000	0.34929	1.000000	0.68203	0.454000	0.27984	0.7405:0.1296:0.13:0.0	6.728	0.22556	323	0.86843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1854.33	40	chr4	56349860	.	C	T	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.994;DP=887;ExcessHet=0;FS=6.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.131;SOR=0.356	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr4	56378148	56378148	C	A	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286668:exon3:c.G368T:p.R123L,AASDH:NM_001286669:exon3:c.G209T:p.R70L,AASDH:NM_001323893:exon3:c.G209T:p.R70L,AASDH:NM_001286671:exon4:c.G668T:p.R223L,AASDH:NM_001286672:exon4:c.G668T:p.R223L,AASDH:NM_001323890:exon4:c.G668T:p.R223L,AASDH:NM_001323892:exon4:c.G668T:p.R223L,AASDH:NM_181806:exon4:c.G668T:p.R223L	.	424	1095	3	0	0	3	0.00136799	0.9973	0.65	.	2822532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.0492750021301	0.0028	0.00119808	0.0027	9.664e-05	0.0005	0	0.0053	0.0039	0.0012	0.0017	0.0026649	412	154602	rs73240543	0.0038	0.0038	0.0039	0.0038	0.0044	0.0037	0.0037	0.0043	0.0042	0.0004	0.0004	3.991e-05	0	0.0054	0.0044	0.0044	0.0042	0.0013	0.0024	0.0023	0.0025	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0005	0.0197	0.0003	0	0	0.0049	0	0.0037	0.0028	0.0010	0.007	0.68238	D	0.009	0.66756	D	0.959	0.62824	D	0.678	0.63213	P	0.011013	0.29696	N	0.344624	1	0.81001	D	2.02	0.55341	M	1.06	0.39781	T	-4.52	0.78302	D	0.572	0.59478	-0.9117	0.46645	T	0.173	0.51579	T	9	0.016572744	0.00350	T	0.049275	0.63741	D	0.243	0.54921	.	.	0.525205403968	0.52167	0.7784720199984064	0.77797	0.36845708657	0.38399	0.20993205905	0.00808	T	0.072765	0.35927	T	-0.400759	0.02289	T	-0.34652	0.39604	T	0.0453639667436107	0.04668	T	0.90311	0.66162	D	0.24539839	0.47498	0.27441525	0.53370	0.24539839	0.47498	0.27441525	0.53369	-11.702	0.85897	D	.	.	0.288	0.51985	B	.;.;.;.;.	.;.;.;.;.	3.313958	0.45546	22.1	0.98978681704468419	0.49680	0.93278	0.57791	D	AEFBI	0.641784	0.61899	D	-0.240262257991727	0.31494	1.766498	-0.293620820487855	0.28309	1.577459	0.694675189892409	0.22627	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.82	1.16	0.19936	0.601000	0.23818	-0.027000	0.12846	-1.682000	0.00784	0.993000	0.37899	0.716000	0.26323	0.203000	0.21983	0.0:0.6926:0.0:0.3074	13.021	0.58190	323	0.86843	AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1318.33	35	chr4	56378148	.	C	A	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.228;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1402	18	0	1	0
chr4	56459374	56459374	C	A	exonic	PAICS	.	nonsynonymous SNV	PAICS:NM_001079524:exon9:c.C1114A:p.L372I,PAICS:NM_001079525:exon10:c.C1135A:p.L379I,PAICS:NM_006452:exon10:c.C1114A:p.L372I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00812267627647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.16144	T	0.342	0.36630	T	0.149	0.27956	B	0.173	0.35463	B	0.000319	0.45977	N	0.194207	0.999987	0.54805	D	0.24	0.09707	N	1.15	0.38397	T	-1.16	0.29727	N	0.242	0.27316	-1.0896	0.05599	T	0.062	0.25923	T	10	0.2710024	0.44636	T	0.008123	0.21521	T	0.038	0.09825	0.381	0.39807	0.371903410333	0.36803	0.6813436332224885	0.68073	0.0979560040444	0.11053	0.564768135548	0.47939	T	0.072186	0.34391	T	-0.190324	0.22210	T	-0.511163	0.21197	T	0.370946884155273	0.27834	T	0.814918	0.47426	T	0.22497948	0.45150	0.14302678	0.34005	0.22497948	0.45150	0.14302678	0.34004	-10.523	0.76979	D	.	.	0.122	0.32079	B	.;.;.;.;.	.;.;.;.;.	2.798282	0.36800	20.3	0.97868107383087954	0.36513	0.94795	0.62355	D	AEFBI	0.752297	0.69284	D	-0.29134203331751	0.29481	1.635286	-0.151255480790568	0.33362	1.907467	0.744556489365873	0.23264	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	2.22	0.27116	3.614000	0.53901	0.392000	0.17901	0.549000	0.26987	1.000000	0.71638	0.992000	0.31684	0.998000	0.85391	0.1347:0.5904:0.2749:0.0	10.987	0.46741	500	0.76024	Class II PurE|PurE domain|PurE domain|PurE domain;Class II PurE|PurE domain|PurE domain|PurE domain;Class II PurE|PurE domain|PurE domain;.;Class II PurE|PurE domain|PurE domain|PurE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	843.33	34	chr4	56459374	.	C	A	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.742;DP=715;ExcessHet=0;FS=5.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.612;SOR=1.362	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr4	56601061	56601061	A	C	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon8:c.A1235C:p.H412P	.	422	1042	53	5	0	63	0.0293433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0170	0	0.0109	0	.	0.0181	0	0.0176	0.0020569	318	154602	rs189562677	0.0058	0.0055	0.0052	0.0065	0.0194	0.0057	0.0057	0.0186	0.0183	0.0009	0.0022	0.0198	2.799e-05	0.0008	0.0183	0.0050	0.0073	0.0194	0.0040	0.0040	0.0040	0.0039	0.0164	0.0037	0.0036	0.0135	0.0124	0.0006	0.0011	0.0014	0.0196	0	0.0012	0.0136	0.0056	0.0057	0.0164	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.015	0.55033	M	1.54	0.30133	T	-4.5	0.78135	D	0.172	0.18376	.	.	.	.	.	.	.	0.005950302	0.00133	T	.	.	.	.	.	.	.	.	.	0.4504680127375459	0.44964	.	.	0.425163269043	0.28547	T	0.043975	0.26670	T	-0.446262	0.01188	T	-0.398205	0.33593	T	.	.	.	0.419858	0.11135	T	0.41277054	0.61608	0.3506432	0.60670	0.41277054	0.61608	0.3506432	0.60669	-6.935	0.53558	T	.	.	0.371	0.57902	A	.	.	2.684197	0.35026	19.79	0.84540003119271534	0.15351	0.51585	0.28930	D	AEFBI	0.193064	0.32019	N	.	.	.	.	.	.	0.0167546444620353	0.12869	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	2.789000	0.47504	4.571000	0.43881	0.750000	0.87069	0.767000	0.29322	0.995000	0.32472	0.005000	0.06747	1.0:0.0:0.0:0.0	11.264	0.48329	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	5855.79	34	chr4	56601061	.	A	C	5855.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.229;DP=1051;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.616;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	16	0	3	0
chr4	56930765	56930765	A	G	exonic	REST	.	nonsynonymous SNV	REST:NM_001193508:exon4:c.A1907G:p.H636R,REST:NM_001363453:exon4:c.A1907G:p.H636R,REST:NM_005612:exon4:c.A1907G:p.H636R	.	.	.	.	.	.	.	.	.	.	.	1907141	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00221243570701	.	.	3.389e-05	0	0	0	0	4.611e-05	0	6.361e-05	2.59e-05	4	154602	rs769381343	1.859e-05	1.847e-05	2.192e-05	1.523e-05	0.0007	1.273e-05	1.091e-05	0.0002	0.0001	0	0	3.951e-05	0	0	0.0007	1.263e-05	3.345e-05	7.051e-05	6.61e-06	6.582e-06	1.292e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.352	0.12226	T	0.681	0.06090	T	0.0	0.02946	B	0.0	0.01387	B	0.262839	0.15280	N	0.489267	1	0.08975	N	0	0.06538	N	3.26	0.06681	T	-0.34	0.12661	N	0.086	0.07398	-0.9375	0.43010	T	0.010	0.03765	T	10	0.045360148	0.03597	T	0.002212	0.04178	T	0.011	0.01250	0.416	0.45544	0.102598925029	0.09809	0.02475156158710952	0.02426	0.0192080480696	0.01881	0.223862797022	0.01544	T	0.094465	0.39422	T	-0.5899	0.00168	T	-0.836818	0.01147	T	0.0240677669644356	0.01153	T	0.189981	0.02023	T	0.0318839	0.03110	0.027295487	0.00872	0.0318839	0.03110	0.027295487	0.00872	-2.557	0.06183	T	.	.	0.067	0.02342	B	.;.	.;.	-0.180288	0.03192	0.526	0.5092414628528511	0.04470	0.10630	0.16082	N	AEFBCI	0.038863	0.05561	N	-1.22012538641464	0.04709	0.2130902	-1.20445086525049	0.05838	0.2793004	0.992340212901094	0.32806	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	3.99	2.17	0.26736	-0.920000	0.04121	-0.151000	0.11419	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.189:0.5906:0.0:0.2204	4.158	0.09735	846	0.36215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1408.33	34	chr4	56930765	.	A	G	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.481;DP=824;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-2.093;SOR=1.17	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	18	0	1	0
chr4	56963503	56963503	G	A	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon7:c.C2044T:p.P682S	.	7	1495	17	3	0	23	0.00763359	.	.	.	3886798	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.163	.	0.0019	0.00379393	0.0031	0.0005	0.0025	0.0001	0.0005	0.0026	0	0.0099	0.0030918	478	154602	rs61747375	0.0037	0.0037	0.0035	0.0039	0.0093	0.0037	0.0036	0.0088	0.0086	0.0005	0.0031	0.0013	5.038e-05	0.0003	0.0023	0.0038	0.0034	0.0093	0.0024	0.0024	0.0026	0.0023	0.0085	0.0022	0.0021	0.0064	0.0057	0.0006	0.0252	0.0029	0.0009	0	0.0004	0.0034	0.0033	0.0024	0.0085	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.861	0.61279	P	0.000132	0.49741	D	0.177605	1	0.81001	D	3.105	0.87672	M	1.1	0.39050	T	-2.96	0.61722	D	0.426	0.46555	-0.5400	0.67163	T	0.211	0.57134	T	10	0.0073290765	0.00167	T	.	.	.	0.163	0.42028	.	.	0.631970868704	0.62895	0.7423886184273022	0.74184	0.37369969626	0.38833	0.306570768356	0.11389	T	0.404834	0.76118	T	-0.408862	0.02022	T	-0.352116	0.38963	T	0.0540768489422514	0.06201	T	0.805919	0.45429	T	0.112257406	0.26521	0.17708229	0.40285	0.112257406	0.26520	0.17708229	0.40285	-5.863	0.45119	T	.	.	0.173	0.37858	B	.	.	4.088366	0.60867	24.3	0.99903686811470538	0.97502	0.97277	0.73745	D	AEFBI	0.464368	0.51289	N	0.639699020071097	0.75703	6.353225	0.56227660753155	0.72255	5.781155	0.999999997713301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.607000	0.67330	8.454000	0.77227	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:1.0:0.0	19.159	0.93507	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	842.33	33	chr4	56963503	.	G	A	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.432;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr4	56976568	56976568	C	T	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon1:c.G1018A:p.D340N	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0674740826676	.	.	8.256e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs768572602	5.472e-06	5.472e-06	5.445e-06	5.5e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	8.993e-07	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.1	0.87590	M	2.61	0.13095	T	-4.83	0.80943	D	0.478	0.51315	-1.0598	0.11805	T	0.112	0.40122	T	10	0.5738198	0.65467	D	0.067474	0.70176	D	0.389	0.70521	0.551	0.66716	0.60906947716	0.60593	0.8893942322996694	0.88909	0.587153137814	0.54305	0.709351181984	0.68499	T	0.532856	0.83865	D	-0.30043	0.08619	T	-0.487795	0.23621	T	0.950336807724541	0.63312	D	0.916808	0.70203	D	0.7716764	0.82149	0.6832184	0.81379	0.7716764	0.82151	0.6832184	0.81380	-9.954	0.73636	D	.	.	0.289	0.52060	B	.	.	4.567127	0.72027	25.8	0.99919513761989243	0.98654	0.83408	0.42527	D	AEFDBCI	0.719736	0.67053	D	0.750131844796624	0.82912	7.881874	0.725994837958488	0.84350	8.268198	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.68	5.68	0.88021	5.769000	0.68518	2.785000	0.34760	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	19.789	0.96448	855	0.34697	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1933.33	34	chr4	56976568	.	C	T	1933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=805;ExcessHet=0;FS=3.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.175;SOR=0.966	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1430	18	0	1	0
chr4	57031325	57031325	C	T	exonic	IGFBP7	.	nonsynonymous SNV	IGFBP7:NM_001553:exon5:c.G841A:p.E281K	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Autosomal recessive	27	1490	5	0	0	5	0.00167504	.	.	.	2377295	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0119254463144	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0022	0.0005	0.0002587	40	154602	rs140470135	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0005	0.0001	2.238e-05	0.0031	2.527e-05	5.926e-05	0.0012	0.0001	0.0004	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	9.826e-05	8.328e-05	0.0002	9.078e-05	2.439e-05	0	6.597e-05	0.0026	0.0002	0	0	8.842e-05	0.0005	0.0006	0.014	0.53172	D	0.035	0.52389	D	0.0	0.02946	B	0.0	0.01387	B	0.656648	0.05955	N	1.178200	0.999998	0.08975	N	1.24	0.30952	L	0.34	0.58176	T	-1.35	0.33598	N	0.125	0.11769	-0.9644	0.38330	T	0.129	0.43848	T	10	0.00950107	0.00214	T	0.011925	0.30017	T	0.114	0.32008	.	.	0.578164481777	0.57486	0.4194656546682306	0.41862	0.483005150796	0.47259	0.38373285532	0.22784	T	0.013937	0.11958	T	-0.371985	0.03494	T	-0.448164	0.27900	T	0.0397978150391886	0.03654	T	0.665033	0.27384	T	0.076848134	0.17406	0.073461264	0.15966	0.076848134	0.17406	0.073461264	0.15966	-5.662	0.43354	T	.	.	0.088	0.11845	B	.	.	2.774255	0.36426	20.2	0.99026383349231306	0.50699	0.66149	0.32978	D	AEFBI	0.454698	0.50729	N	-0.509250936801645	0.21781	1.158381	-0.453116283430464	0.23461	1.279529	0.990404890674167	0.32142	0.67177	0.52595	0	0.54472	0.11627	0	0.446627	0.06593	0	0.711	0.71501	0	.	.	5.89	1.07	0.19399	1.202000	0.31878	1.183000	0.24710	0.549000	0.26987	0.981000	0.35396	0.833000	0.27230	0.918000	0.45347	0.0:0.5203:0.2674:0.2124	5.915	0.18289	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr4	57031325	.	C	T	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=722;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.39;SOR=0.836	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr4	61947046	61947046	C	T	exonic	ADGRL3	.	nonsynonymous SNV	ADGRL3:NM_001371342:exon12:c.C2294T:p.T765M,ADGRL3:NM_001371346:exon13:c.C2333T:p.T778M,ADGRL3:NM_001371345:exon14:c.C2513T:p.T838M,ADGRL3:NM_001322246:exon15:c.C2348T:p.T783M,ADGRL3:NM_001371343:exon15:c.C2498T:p.T833M,ADGRL3:NM_001371344:exon15:c.C2552T:p.T851M,ADGRL3:NM_015236:exon15:c.C2348T:p.T783M,ADGRL3:NM_001322402:exon16:c.C2552T:p.T851M	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0151955851281	0.0024	.	0.0012	0.0006	0.0006	0	0.0005	0.0017	0	0.0009	0.0012936	200	154602	rs201709145	0.0022	0.0022	0.0023	0.0021	0.0026	0.0022	0.0021	0.0025	0.0025	0.0003	0.0017	7.654e-05	0	0.0003	0.0010	0.0026	0.0017	0.0016	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0024	0.0022	0.0007	0.0011	0.0029	0	0	0.0004	0	0.0027	0.0009	0.0008	0.008	0.59928	D	0.211	0.27767	T	0.669	0.41149	P	0.031	0.21939	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.8	0.11082	T	-2.81	0.63669	D	0.913	0.91621	-1.0626	0.11118	T	0.022	0.09467	T	10	0.13009226	0.24757	T	0.015196	0.35793	T	0.359	0.67962	.	.	0.260580752073	0.25663	0.7468800826306136	0.74634	0.415912789628	0.42235	0.769560575485	0.77358	T	0.034013	0.23270	T	-0.146312	0.28890	T	0.0136912	0.71221	D	0.0440117641560366	0.04423	T	0.941706	0.78221	D	.	.	.	.	.	.	.	.	-11.836	0.84042	D	.	.	0.166	0.44566	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.532658	0.71174	25.6	0.99597885592600088	0.74042	0.98628	0.84879	D	AEFI	0.939014	0.93903	D	0.279841582863251	0.55126	3.677089	0.419349033023371	0.62771	4.498267	0.999999979043345	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.905000	0.86479	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	19.428	0.94743	933	0.16026	.;.;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal;GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1940.33	35	chr4	61947046	.	C	T	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=814;ExcessHet=0;FS=3.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.33;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr4	67512569	67512569	C	A	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon9:c.G1445T:p.G482V,CENPC:NM_001812:exon9:c.G1445T:p.G482V	.	.	.	.	.	.	.	.	0.7263	0.522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0039	0.00459265	0.0023	0.0201	0.0011	0	0	0	0	0	0.0008732	135	154602	rs141379239	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0104	0.0100	0.0114	0.0008	0	0	0	0.0002	1.791e-05	0.0008	4.443e-05	0.0036	0.0036	0.0038	0.0034	0.0124	0.0033	0.0032	0.0115	0.0112	0.0124	0	0.0010	0	0	0	0	8.825e-05	0.0033	0	0.013	0.53900	D	0.331	0.18505	T	0.906	0.49993	P	0.36	0.43183	B	0.307806	0.14486	N	0.637112	0.997146	0.43662	D	1.545	0.39105	L	.	.	.	-3.5	0.68178	D	0.174	0.18649	-1.1210	0.02269	T	0.047	0.19998	T	9	0.0045818686	0.00095	T	0.004855	0.12161	T	0.062	0.17934	.	.	0.586786441633	0.58353	0.03545078778992882	0.03492	0.269153642095	0.29430	0.322058945894	0.13734	T	0.224253	0.58863	T	-0.482489	0.00715	T	-0.454808	0.27168	T	0.0727609993821956	0.09034	T	0.756224	0.37950	T	0.20340036	0.42416	0.1572935	0.36786	0.20340036	0.42416	0.1572935	0.36785	-2.814	0.08313	T	.	.	0.122	0.25592	B	.	.	3.109647	0.41939	21.4	0.98895301900685606	0.48073	0.57603	0.30420	D	AEFBI	0.165438	0.29193	N	-0.284559721885744	0.29744	1.652214	-0.298393861822161	0.28152	1.567353	0.122048539887109	0.16905	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.82	2.12	0.26372	0.072000	0.14482	0.034000	0.13773	-0.242000	0.07441	0.655000	0.28216	0.652000	0.25970	0.949000	0.49496	0.0:0.7147:0.0:0.2853	7.101	0.24519	913	0.21160	CENP-C, middle DNMT3B-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004573	0.000000	0.009563	0.008824	0.000000	0.000000	0.000000	0.000000	0.02632	410.33	29	chr4	67512569	.	C	A	410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.5;DP=632;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=1.36;SOR=0.376	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	67630516	67630516	T	G	exonic	UBA6	.	nonsynonymous SNV	UBA6:NM_018227:exon26:c.A2278C:p.N760H	.	.	.	.	.	.	.	.	.	.	.	2217796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00812358464229	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0006	0	0	0.0001617	25	154602	rs140006149	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	4.919e-05	0.0007	0	3.917e-05	0.0003	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0	0.0012	0	0	0	0.0003	0	0	0.003	0.68238	D	0.006	0.70582	D	0.391	0.34615	B	0.235	0.38432	B	0.000198	0.48115	D	0.239630	0.523745	0.31548	N	0.84	0.21119	L	1.0	0.41392	T	-1.01	0.26639	N	0.451	0.48872	-0.8479	0.52113	T	0.195	0.54927	T	10	0.06136805	0.07683	T	0.008124	0.21521	T	0.082	0.23913	.	.	0.158540857583	0.15491	0.33960312925275365	0.33873	0.14949255728	0.16857	0.458430349827	0.33095	T	0.153059	0.49374	T	-0.317421	0.07111	T	-0.390601	0.34481	T	0.136363744735718	0.15958	T	0.805919	0.45429	T	0.19090664	0.40695	0.1879367	0.42054	0.19090664	0.40695	0.1879367	0.42053	-8.581	0.64963	D	.	.	0.076	0.05979	B	.	.	3.674768	0.52277	23.2	0.98374757915113276	0.40791	0.97608	0.75872	D	AEFBI	0.627185	0.60973	D	0.266746233303644	0.54471	3.612654	0.355536504790423	0.58842	4.05741	0.999814288216109	0.43459	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.91	4.91	0.63897	6.063000	0.70796	4.972000	0.46406	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.376	0.66446	955	0.09969	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme, catalytic cysteine domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	642.33	39	chr4	67630516	.	T	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=789;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.519;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	18	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R,GNRHR:NM_001012763:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	31062	Isolated_congenital_hypogonadotropic_hypogonadism|Hypogonadotropic_hypogonadism|not_provided|Inborn_genetic_diseases|GNRHR-related_disorder|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Gonadotropin_deficiency	MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.000000	0.012195	0.007576	0.02632	2148.33	47	chr4	67754019	.	T	C	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.959;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-1.848;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	18	0	1	0
chr4	68053955	68053955	C	G	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon10:c.G1271C:p.R424T	.	439	1076	6	1	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.144236885818	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0002	0	0.0016	0.0003169	49	154602	rs200202727	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	8.947e-05	0.0024	2.52e-05	0	0.0003	1.349e-05	0.0003	0.0012	7.223e-05	7.218e-05	5.139e-05	9.401e-05	0.0015	3.969e-05	3.125e-05	0.0007	0.0005	0	0	0	0.0006	0	0	0	1.47e-05	0.0005	0.0015	0.002	0.72154	D	0.006	0.70582	D	0.964	0.55854	D	0.783	0.57419	P	0.000842	0.41440	D	0.106362	0.885204	0.35833	D	3.045	0.86684	M	-3.48	0.94584	D	-5.16	0.83422	D	0.624	0.63883	1.002	0.97223	D	0.867	0.95583	D	10	0.08312583	0.13795	T	0.144237	0.82651	D	0.687	0.88585	.	.	0.914166010888	0.91330	0.7876491475330307	0.78716	0.321257321859	0.34324	0.46925008297	0.34577	T	0.522848	0.83346	D	0.00456421	0.52282	T	0.188228	0.82469	D	0.238330126882022	0.22342	T	0.820318	0.47908	T	0.5055301	0.67418	0.45647022	0.68408	0.5055301	0.67419	0.45647022	0.68408	-10.086	0.74425	D	.	.	0.293	0.52459	B	.	.	2.695859	0.35200	19.84	0.98143339729469281	0.38622	0.80185	0.39890	D	AEFI	0.158146	0.28376	N	0.507767073386747	0.67547	5.096347	0.457546788725571	0.65204	4.794218	6.63632627682788E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.79	4.78	0.60666	0.863000	0.27567	.	.	-0.182000	0.10109	0.391000	0.26096	0.014000	0.20376	0.380000	0.26335	0.0:0.909:0.0:0.091	13.005	0.58104	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05263	3310.83	42	chr4	68053955	.	C	G	3310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1001;ExcessHet=0.119;FS=2.609;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.425;SOR=0.568	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	17	0	2	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.008772	0.000000	0.034483	0.006098	0.003788	0.02632	1132.33	38	chr4	68064747	.	G	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=747;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.72;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	18	0	1	0
chr4	68228833	68228833	T	A	exonic	TMPRSS11B	.	nonsynonymous SNV	TMPRSS11B:NM_182502:exon9:c.A998T:p.K333I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0795971840476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	2.052e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.041	0.50514	D	0.602	0.39365	P	0.266	0.39732	B	0.434216	0.12710	N	0.678072	1	0.08975	N	1.655	0.42436	L	-2.48	0.89071	D	-3.64	0.69835	D	0.243	0.27435	-0.2854	0.75393	T	0.571	0.84490	D	10	0.20899269	0.37247	T	0.079597	0.73271	D	0.178	0.44724	0.516	0.61611	0.365892764245	0.36201	0.5423977651483927	0.54164	0.0386234349333	0.04107	0.337361097336	0.16042	T	0.58694	0.86560	D	-0.0542459	0.43800	T	-0.315697	0.43045	T	0.763172686100006	0.44035	D	0.240376	0.03449	T	0.29531294	0.52482	0.16183417	0.37623	0.29531294	0.52482	0.16183417	0.37622	-8.483	0.64317	D	.	.	0.232	0.46516	B	.	.	1.572116	0.20126	14.60	0.99211407674803154	0.55594	0.16361	0.19353	N	AEFI	0.070699	0.14046	N	-0.440002012607631	0.24080	1.297722	-0.540564945573529	0.21057	1.137333	3.37749308437566E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	3.29	0.36801	-0.488000	0.06578	.	.	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1669:0.0:0.0:0.8331	8.902	0.34656	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	95	chr4	68228833	.	T	A	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.317;DP=1888;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.544;SOR=0.836	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	18	0	1	0
chr4	68229452	68229452	G	A	exonic	TMPRSS11B	.	nonsynonymous SNV	TMPRSS11B:NM_182502:exon8:c.C751T:p.R251W	.	428	1079	14	1	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.127465072404	7.7e-05	0.000199681	0.0005	0	0.0004	0	0	0.0004	0.0011	0.0016	0.0004334	67	154602	rs201912154	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0001	0.0005	0.0003	0.0001	0	0.0042	0.0003	0.0007	0.0022	0.0003	0.0003	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	4.817e-05	0	0.0006	0.0003	0.0002	0	0	0.0002	0	0.0023	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.87	0.61806	P	0.615478	0.10827	N	0.744561	1	0.08975	N	2.975	0.85398	M	-3.27	0.93640	D	-6.29	0.90729	D	0.251	0.28381	0.175	0.85477	D	0.843	0.94760	D	10	0.04069996	0.02661	T	0.127465	0.80927	D	0.298	0.61843	.	.	0.411401001288	0.40751	0.8305988557427127	0.83018	0.0299362923348	0.03083	0.188965350389	0.00207	T	0.75884	0.93451	D	-0.259894	0.12912	T	-0.152881	0.58989	T	0.131985702834619	0.15564	T	0.830717	0.49671	T	0.3139372	0.54124	0.36682844	0.62005	0.3139372	0.54124	0.36682844	0.62004	-10.165	0.74893	D	.	.	0.114	0.22573	B	.	.	2.581171	0.33463	19.35	0.99439262885682589	0.64670	0.04602	0.10258	N	AEFGI	0.133399	0.25305	N	-0.344369494826165	0.27479	1.50798	-0.612968244684275	0.19160	1.026761	5.84066343181291E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	0.599	0.16698	-2.218000	0.01303	.	.	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.1792:0.1529:0.3535:0.3144	0.999	0.01381	792	0.45996	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	539.33	34	chr4	68229452	.	G	A	539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=691;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.053;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	18	0	1	0
chr4	68337583	68337583	C	G	exonic	YTHDC1	.	nonsynonymous SNV	YTHDC1:NM_001031732:exon3:c.G448C:p.D150H,YTHDC1:NM_001330698:exon3:c.G448C:p.D150H,YTHDC1:NM_133370:exon3:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0301471348395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs186920853	2.062e-06	2.052e-06	0	4.145e-06	2.354e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	9.008e-07	0	2.354e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.201	0.28032	T	0.999	0.90584	D	0.99	0.88582	D	0.000042	0.53742	D	0.157526	0.999787	0.49076	D	1.355	0.33814	L	1.74	0.30133	T	-2.27	0.50666	N	0.542	0.56919	-0.9141	0.46338	T	0.149	0.47487	T	10	0.25592592	0.42990	T	0.030147	0.52519	D	0.205	0.49236	0.155	0.05858	0.196089822672	0.19227	0.39964211284795376	0.39879	0.309383900354	0.33246	0.632301688194	0.57472	T	0.169483	0.51687	T	-0.117845	0.33475	T	-0.304109	0.44288	T	0.518142129490876	0.33297	D	0.90391	0.73169	D	0.20538467	0.42678	0.27354196	0.53274	0.20538467	0.42678	0.27354196	0.53273	-3.857	0.22227	T	.	.	0.152	0.42720	B	.;.;.	.;.;.	4.129833	0.61790	24.4	0.99591226658205956	0.73631	0.97983	0.78628	D	AEFBI	0.681168	0.64461	D	0.640448904242445	0.75753	6.361817	0.663283725639	0.79604	7.117468	0.999999998877887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.348000	0.65773	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	19.539	0.95259	699	0.57969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1846.33	34	chr4	68337583	.	C	G	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=772;ExcessHet=0;FS=6.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.468;SOR=0.941	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1860,0,1544	18	0	1	0
chr4	68647289	68647289	G	A	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon6:c.C1408T:p.R470C	.	0	1509	9	4	0	17	0.00560132	.	.	.	709423	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.505	0.0122118754644	0.0047	0.00139776	0.0028	0.0006	0.0012	0	0.0008	0.0044	0.0077	0.0008	0.0028525	441	154602	rs147164238	0.0039	0.0039	0.0040	0.0039	0.0047	0.0038	0.0038	0.0046	0.0046	0.0005	0.0019	0.0006	2.519e-05	0.0010	0.0031	0.0047	0.0035	0.0007	0.0032	0.0032	0.0037	0.0027	0.0058	0.0030	0.0029	0.0053	0.0051	0.0005	0	0.0036	0.0006	0.0002	0.0008	0	0.0058	0.0038	0.0004	0.03	0.45393	D	0.025	0.56192	D	0.862	0.47435	P	0.55	0.49239	P	0.000003	0.62929	U	0.000000	0.963413	0.38347	D	4.48	0.98915	H	-0.7	0.72785	T	-6.94	0.93440	D	0.49	0.52386	0.111	0.84383	D	0.401	0.75195	T	10	0.023572743	0.00621	T	0.012212	0.30578	T	0.505	0.78662	.	.	0.605904737968	0.60274	0.2782567925007794	0.27738	0.0254598531286	0.02602	0.453642308712	0.32441	T	0.283506	0.65626	T	-0.250176	0.14076	T	-0.125598	0.61340	T	0.138474470337985	0.16142	T	0.827917	0.49191	T	0.6658283	0.76210	0.46342343	0.68851	0.6658283	0.76211	0.46342343	0.68851	-11.382	0.81711	D	.	.	0.504	0.64776	A	.	.	4.512375	0.70673	25.6	0.99855290282612064	0.93458	0.69941	0.34388	D	AEFGI	0.701595	0.65824	D	0.369993610773644	0.59804	4.162812	0.248155732730505	0.52545	3.428636	8.24818300950698E-4	0.07872	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.96	0.33383	0.478000	0.21922	.	.	0.659000	0.54702	0.711000	0.28732	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	11.445	0.49361	828	0.39726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002726	0.000000	0.004076	0.005319	0.000000	0.000000	0.009146	0.000000	0.02632	3885.33	45	chr4	68647289	.	G	A	3885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=1015;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=1.05;QD=13.83;ReadPosRankSum=0.871;SOR=0.623	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr4	68655133	68655133	G	A	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon4:c.C1055T:p.T352I	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0122603512082	0.0022	0.00319489	0.0036	0.0007	0.0008	0.0001	0.0012	0.0040	0.0044	0.0085	0.0034993	541	154602	rs148583958	0.0042	0.0043	0.0040	0.0044	0.0092	0.0041	0.0041	0.0086	0.0084	0.0004	0.0019	0.0007	0	0.0012	0.0051	0.0044	0.0039	0.0092	0.0029	0.0029	0.0024	0.0034	0.0112	0.0026	0.0026	0.0088	0.0080	0.0005	0	0.0030	0.0023	0.0002	0.0005	0	0.0043	0.0033	0.0112	0.022	0.48642	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.528353	0.31954	D	3.41	0.91792	M	-0.19	0.65931	T	-5.83	0.88361	D	0.595	0.61426	-0.0907	0.80312	T	0.328	0.69589	T	10	0.029805511	0.01107	T	0.01226	0.30673	T	0.389	0.70521	.	.	0.739250118084	0.73691	0.3489616763953976	0.34810	0.159855645627	0.18038	0.531564950943	0.43255	T	0.125632	0.45147	T	-0.296996	0.08946	T	-0.194404	0.55176	T	0.0538535720832315	0.06164	T	0.925507	0.72634	D	0.79608405	0.83657	0.4849404	0.70186	0.79608405	0.83659	0.4849404	0.70187	-9.17	0.68785	D	.	.	0.470	0.63171	A	.	.	3.799319	0.54735	23.5	0.99846306690567688	0.92576	0.90590	0.51892	D	AEFDGBIJ	0.776452	0.70956	D	0.417574039395309	0.62387	4.453953	0.24909980984466	0.52600	3.433636	0.999999514429661	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.57	2.57	0.29928	4.647000	0.61115	.	.	0.671000	0.69459	1.000000	0.71638	0.990000	0.31317	0.038000	0.14061	0.0:0.0:1.0:0.0	10.831	0.45865	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005959	0.005051	0.001359	0.000000	0.000000	0.000000	0.009202	0.018939	0.02632	1473.33	34	chr4	68655133	.	G	A	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.836;DP=764;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=1.9;QD=10.91;ReadPosRankSum=-0.724;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	18	0	1	0
chr4	68816366	68816366	G	C	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001075:exon1:c.G347C:p.W116S,UGT2B10:NM_001144767:exon1:c.G347C:p.W116S	.	426	1092	4	0	0	4	0.00182815	.	.	.	2427853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00268002450626	.	.	0.0001	0	0.0003	0	0	0.0002	0.0011	6.061e-05	0.0001488	23	154602	rs749384384	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0038	0.0033	5.986e-05	0.0005	0	0	0	0.0052	0.0002	0.0005	9.279e-05	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0001	0.0008	0.0007	2.409e-05	0	0.0013	0	0	0	0	0.0001	0.0005	0.0002	0.479	0.10115	T	0.575	0.08654	T	0.001	0.07471	B	0.004	0.10090	B	0.032042	0.01747	U	2.443990	1	0.08975	N	0.695	0.17993	N	0.2	0.60111	T	-3.92	0.83422	D	0.18	0.19459	-1.0399	0.17343	T	0.074	0.29897	T	10	0.036660135	0.01976	T	0.00268	0.05492	T	0.077	0.22490	.	.	0.233150807113	0.22925	0.20326628005497288	0.20243	0.00905380675831	0.00821	0.266165137291	0.05647	T	0.017174	0.14057	T	-0.467196	0.00885	T	-0.561699	0.16218	T	0.0353874630367035	0.02873	T	0.243776	0.04542	T	0.102768846	0.24286	0.06501928	0.13116	0.102768846	0.24286	0.06501928	0.13116	-5.287	0.39814	T	.	.	0.118	0.25882	B	.;.	.;.	-0.061768	0.03875	0.843	0.40487662027949034	0.02860	0.01596	0.05182	N	AEFGBCI	0.293306	0.40397	N	-1.5528081256463	0.01518	0.0662986	-1.65179809095775	0.01367	0.06172616	0.999999861606895	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.475579	0.07313	0	0.564101	0.26826	0	.	.	2.63	-5.27	0.02551	-2.738000	0.00871	.	.	0.305000	0.19019	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2162:0.1331:0.2185:0.4321	0.780	0.00972	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008753	0.010309	0.012228	0.032258	0.000000	0.000000	0.000000	0.000000	0.05263	6183.81	151	chr4	68816366	.	G	C	6183.81	.	AC=2;AF=0.053;AN=38;DP=2815;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.35;SOR=0.909	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	18	1	0	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.05263	2784.83	48	chr4	68945392	.	A	C	2784.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.185;DP=836;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.725;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	17	0	2	0
chr4	69005071	69005071	G	A	exonic	UGT2B10	.	stopgain	UGT2B10:NM_001290091:exon7:c.C628T:p.R210X	.	6	1498	17	1	0	19	0.00630182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	9.615e-05	0.0012	0.0001	0	0.0011	0.0011	0.0048	0.0011578	179	154602	rs149826760	0.0009	0.0009	0.0007	0.0011	0.0047	0.0009	0.0008	0.0043	0.0042	0.0002	0.0010	0.0049	2.521e-05	7.489e-05	0.0031	0.0006	0.0013	0.0047	0.0007	0.0007	0.0006	0.0009	0.0033	0.0006	0.0006	0.0021	0.0017	0.0002	0	0.0009	0.0046	0	9.436e-05	0	0.0007	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3882.33	44	chr4	69005071	.	G	A	3882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=1049;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.954;QD=12.86;ReadPosRankSum=-0.491;SOR=0.778	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr4	69008902	69008902	C	A	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon6:c.G518T:p.S173I	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00139776	0.0018	0.0004	0.0027	0	0.0006	0.0024	0.0055	0.0007	0.0015782	244	154602	rs199672784	0.0017	0.0017	0.0017	0.0017	0.0186	0.0017	0.0016	0.0157	0.0147	0.0019	0.0036	0.0058	0	0.0008	0.0186	0.0015	0.0034	0.0010	0.0020	0.0021	0.0019	0.0021	0.0058	0.0018	0.0018	0.0048	0.0044	0.0014	0	0.0058	0.0049	0	0.0009	0.0204	0.0017	0.0052	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023697	0.036585	0.026027	0.039773	0.083333	0.017544	0.014184	0.003906	0.02632	5424.33	409	chr4	69008902	.	C	A	5424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=1030;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-1.335;QD=13.26;ReadPosRankSum=-0.821;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1361	18	0	1	0
chr4	69009980	69009980	A	C	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon5:c.T279G:p.N93K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5631.81	34	chr4	69009980	.	A	C	5631.81	.	AC=2;AF=0.053;AN=38;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.22;QD=33.93;SOR=1.367	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	18	1	0	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001603	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.003788	0.05263	6788.83	34	chr4	69018306	.	T	G	6788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.668;DP=1261;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.2;MQRankSum=-0.399;QD=11.26;ReadPosRankSum=-1.122;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1328	17	0	2	0
chr4	69096951	69096951	G	C	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon1:c.G431C:p.R144T,UGT2B7:NM_001330719:exon1:c.G431C:p.R144T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.017486467397	.	.	8.275e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs778529315	2.053e-06	2.052e-06	1.362e-06	2.752e-06	2.325e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.056	0.49663	T	0.298	0.32505	B	0.315	0.44785	B	0.119015	0.19091	U	0.462823	1	0.08975	N	2.05	0.56469	M	-0.03	0.63077	T	-3.61	0.73788	D	0.161	0.16864	-0.8168	0.54133	T	0.199	0.55527	T	9	0.1509304	0.28538	T	0.017486	0.39209	T	0.066	0.19193	0.458	0.52427	0.107399877778	0.10242	0.2558937755282273	0.25503	0.060419596031	0.06713	0.256847202778	0.04523	T	0.419759	0.77168	T	-0.252981	0.13735	T	-0.500536	0.22293	T	0.587886869907379	0.35923	D	0.675632	0.35246	T	0.15251456	0.34617	0.20062423	0.44002	0.15251456	0.34617	0.20062423	0.44001	-6.458	0.49961	T	.	.	0.127	0.33273	B	.;.;.	.;.;.	0.561713	0.09303	6.084	0.89250608118182195	0.18637	0.06366	0.12366	N	AEFBCIJ	0.576699	0.57859	D	-1.02578746487125	0.08071	0.3771661	-1.23116164353212	0.05416	0.2580081	0.999224684906873	0.38808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-3.17	0.04882	-0.727000	0.05034	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.6829:0.0:0.3171:0.0	8.363	0.31531	677	0.60274	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2927.33	42	chr4	69096951	.	G	C	2927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1076;ExcessHet=0;FS=9.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.257;SOR=1.27	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr4	69107185	69107185	G	T	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon4:c.G1013T:p.R338I,UGT2B7:NM_001330719:exon4:c.G1013T:p.R338I,UGT2B7:NM_001349568:exon5:c.G266T:p.R89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0121797837642	.	.	1.651e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs774139685	8.24e-06	8.209e-06	1.367e-06	1.518e-05	0.0002	4.39e-06	3.47e-06	1.59e-05	9.34e-06	0	0	0	0	0	0.0002	4.509e-06	3.331e-05	4.668e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.988	0.73220	D	0.879	0.80445	P	0.000005	0.62929	U	0.000000	0.999948	0.51968	D	4.425	0.98735	H	-0.12	0.64630	T	-7.69	0.95603	D	0.736	0.73645	0.157	0.85184	D	0.495	0.80869	T	9	0.87429667	0.86712	D	0.01218	0.30521	T	0.413	0.72404	0.746	0.87738	0.594056560588	0.59083	0.5662789560443178	0.56555	0.179474252234	0.20186	0.556555271149	0.46781	T	0.53243	0.83844	D	-0.0165876	0.49339	T	-0.0560975	0.66603	D	0.999769508838654	0.98882	D	0.986801	0.96078	D	0.94734603	0.95995	0.9044528	0.95293	0.94734603	0.95996	0.9044528	0.95293	-13.498	0.91310	D	.	.	0.662	0.73037	P	.;.;.	.;.;.	4.582908	0.72416	25.8	0.97869124647369499	0.36520	0.97132	0.72877	D	AEFI	0.937375	0.93505	D	0.616808515926538	0.74236	6.098695	0.457476133187253	0.65200	4.793657	0.999941310228318	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	2.93	0.33092	6.779000	0.74832	.	.	0.368000	0.20244	1.000000	0.71638	0.044000	0.21668	0.683000	0.33629	0.0:0.0:1.0:0.0	11.654	0.50569	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1822.33	34	chr4	69107185	.	G	T	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=912;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-2.795;QD=12.57;ReadPosRankSum=-0.538;SOR=0.76	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	18	0	1	0
chr4	69200588	69200588	T	C	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon6:c.A1442G:p.H481R	.	2	1485	34	1	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	0.0060	0.0062	0.0022	0.0075	0.0037	0.0064	0.0113	0.0072	0.0013063	34	26028	rs200852364	8.505e-05	0.0047	8.314e-05	8.699e-05	0.0003	7.272e-05	6.812e-05	0.0001	0.0001	0.0003	0.0001	0.0005	0.0002	3.802e-05	0	6.401e-05	8.445e-05	0.0002	2.639e-05	0.0002	5.156e-05	0	4.425e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.448e-05	0	4.425e-05	0	0	0.034	0.44029	D	0.006	0.70582	D	0.081	0.24602	B	0.092	0.30031	B	0.000142	0.49130	N	0.080367	0.999981	0.18198	N	2.885	0.83555	M	0.07	0.61677	T	-6.67	0.92346	D	0.205	0.22742	-0.8733	0.50280	T	0.173	0.51611	T	10	0.016969383	0.00360	T	.	.	.	0.189	0.46613	.	.	0.304760801415	0.30091	0.10960936450173794	0.10889	0.00993161298319	0.00904	0.401416927576	0.25266	T	0.030796	0.21743	T	-0.161398	0.26546	T	-0.469614	0.25557	T	0.892795264720917	0.54393	D	0.640736	0.25328	T	0.37984788	0.59305	0.41448992	0.65591	0.37984788	0.59305	0.41448992	0.65591	-9.706	0.72133	D	.	.	0.110	0.21125	B	.	.	1.167581	0.15569	11.95	0.37659245556180876	0.02494	0.62903	0.31924	D	AEFI	.	.	.	-1.24356243697763	0.04385	0.1977844	-1.33254164926487	0.04016	0.1885503	2.00704249431481E-6	0.01202	0.553676	0.25195	0	0.657636	0.61667	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.27	-0.615	0.11005	3.324000	0.51734	.	.	-0.873000	0.02525	0.999000	0.42656	0.000000	0.08366	0.004000	0.06068	0.0:0.1865:0.0:0.8135	6.335	0.20497	540	0.73006	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.043716	0.052326	0.046322	0.029167	0.000000	0.051724	0.054839	0.023256	0.02632	61.33	42	chr4	69200588	.	T	C	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.09;DP=1254;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.32;MQRankSum=-16.65;QD=0.22;ReadPosRankSum=4.82;SOR=0.623	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr4	69294741	69294741	G	A	exonic	UGT2B28	.	nonsynonymous SNV	UGT2B28:NM_053039:exon6:c.G1522A:p.V508I	.	101	1415	5	1	0	7	0.0024674	.	.	.	2822553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.0017600498591	0.0044	0.00179712	0.0035	0.0005	0.0027	0	0.0071	0.0049	0.0023	0.0008	0.0003458	9	26028	rs150330705	0.0041	0.0041	0.0042	0.0040	0.0045	0.0040	0.0040	0.0044	0.0044	0.0008	0.0032	0.0028	0	0.0084	0.0038	0.0045	0.0040	0.0005	0.0042	0.0044	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0054	0.0010	0	0.0049	0.0033	0	0.0065	0.0036	0.0061	0.0046	0.0010	0.885	0.02513	T	0.75	0.04807	T	0.0	0.02946	B	0.002	0.06944	B	0.703346	0.10075	N	0.817300	1	0.08975	N	-0.02	0.05091	N	0.29	0.58897	T	0.08	0.06026	N	0.042	0.01498	-1.0327	0.19586	T	0.054	0.22997	T	10	0.005805224	0.00129	T	0.00176	0.02986	T	0.019	0.03383	.	.	0.0482279557977	0.04254	0.017179241553666836	0.01672	0.028384968943	0.02914	0.304297208786	0.11045	T	0.003124	0.02525	T	-0.671577	0.00054	T	-0.729488	0.04350	T	0.00101740650106362	0.00010	T	0.370863	0.08760	T	0.036586255	0.04528	0.02687563	0.00803	0.036586255	0.04528	0.02687563	0.00803	-2.311	0.04615	T	.	.	0.077	0.06387	B	.	.	-0.471660	0.01959	0.169	0.096437337050818625	0.00103	0.00419	0.02071	N	AEFI	0.016100	0.00343	N	-1.76282846215195	0.00643	0.02771795	-1.798323242707	0.00764	0.03409481	1.17512467519987E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.85	-0.744	0.10542	-0.620000	0.05661	.	.	-1.042000	0.01662	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5249:0.0:0.4751:0.0	6.666	0.22229	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000560	0.000000	0.001408	0.000000	0.000000	0.000000	0.006667	0.000000	0.07895	11212.8	37	chr4	69294741	.	G	A	11212.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.15;DP=1242;ExcessHet=0;FS=2.073;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=53.67;MQRankSum=-9.841;QD=22.47;ReadPosRankSum=-0.82;SOR=0.933	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	17	1	1	0
chr4	69639105	69639105	G	C	exonic	UGT2A1;UGT2A2	.	nonsynonymous SNV	UGT2A2:NM_001105677:exon1:c.C536G:p.T179R,UGT2A2:NM_001301233:exon1:c.C536G:p.T179R,UGT2A1:NM_001252274:exon3:c.C1139G:p.T380R	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0202170207253	0.0005	0.000599042	0.0007	0.0001	0.0014	0	0	0.0009	0.0023	0.0001	0.0006533	101	154602	rs149059274	0.0007	0.0007	0.0007	0.0007	0.0085	0.0006	0.0006	0.0066	0.0059	0.0004	0.0014	0.0031	0	0.0002	0.0085	0.0006	0.0015	0.0003	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0009	0.0020	0	0.0005	0.0068	0.0007	0.0014	0.0008	0.015	0.52492	D	0.341	0.23638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.61798	T	-3.35	0.66436	D	0.715	0.71765	-0.3573	0.73342	T	0.376	0.73393	T	8	0.0639776	0.08416	T	0.020217	0.42769	T	0.416	0.72631	.	.	0.54626238531	0.54282	0.37350057189729025	0.50270	.	.	0.516141593456	0.41083	T	.	.	.	-0.0503236	0.44398	T	0.119559	0.78205	D	0.0580219084407165	0.06854	T	0.879912	0.61778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.87281	P	.;.;.	.;.;.	3.109985	0.41948	21.4	0.9912494002894835	0.53089	0.46340	0.27738	N	AEFI	0.325038	0.42674	N	0.228778732882571	0.52598	3.432976	0.148912674275824	0.47084	2.944039	0.282617954173962	0.19003	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.98	5.98	0.97147	0.509000	0.22414	.	.	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	17.946	0.88957	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.016304	0.011696	0.000000	0.008621	0.006098	0.003788	0.02632	2806.33	38	chr4	69639105	.	G	C	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.22;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	18	0	1	0
chr4	69727170	69727170	G	T	exonic	SULT1B1	.	nonsynonymous SNV	SULT1B1:NM_014465:exon8:c.C809A:p.T270N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0118931898217	.	.	8.294e-06	0	0	0	0	0	0	6.07e-05	6.5e-06	1	154602	rs749342294	4.112e-06	4.104e-06	1.364e-06	6.888e-06	6.979e-05	1.48e-06	9.7e-07	3.003e-05	2.043e-05	0	0	0	0	0	0	0	0	6.979e-05	6.587e-06	6.57e-06	0	1.349e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.99	0.63424	D	0.901	0.63994	P	0.000752	0.42006	D	0.105613	0.994123	0.42169	D	3.105	0.87672	M	4.35	0.02319	T	-4.81	0.80767	D	0.754	0.75283	-1.1443	0.01205	T	0.034	0.14464	T	10	0.9746475	0.97184	D	0.011893	0.29959	T	0.283	0.60100	0.886	0.97130	0.431822907236	0.42802	0.48336268996556775	0.48256	0.119229957646	0.13424	0.533940196037	0.43590	T	0.566285	0.85566	D	-0.204137	0.20211	T	-0.348858	0.39337	T	0.986342370510101	0.77086	D	0.928607	0.73726	D	0.7997627	0.83890	0.6881103	0.81654	0.7997627	0.83892	0.6881103	0.81655	-9.303	0.69626	D	.	.	0.411	0.60161	A	.	.	3.379004	0.46730	22.3	0.99140457639146418	0.53518	0.87262	0.46748	D	AEFBCI	0.766355	0.70256	D	0.555535427640337	0.70419	5.498865	0.419344285651281	0.62771	4.498227	0.999999913088984	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.11	4.27	0.50009	7.143000	0.76935	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0858:0.0:0.9142:0.0	12.094	0.53044	946	0.12043	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1729.81	36	chr4	69727170	.	G	T	1729.81	.	AC=2;AF=0.053;AN=38;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.45;SOR=1.262	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	1	0	0
chr4	69939189	69939189	G	A	exonic	CSN1S1	.	nonsynonymous SNV	CSN1S1:NM_001025104:exon10:c.G254A:p.S85N,CSN1S1:NM_001890:exon10:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00782290475106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.906e-07	4.104e-06	1.374e-06	0	9.069e-07	0	0	.	.	0	0	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.91255	T	0.68	0.06109	T	0.741	0.42992	P	0.556	0.49411	P	0.859207	0.07105	N	1.069020	.	.	.	0.755	0.19153	N	0.69	0.51714	T	-1.62	0.44471	N	0.164	0.31814	-0.9564	0.39843	T	0.128	0.43503	T	9	0.08151877	0.13355	T	0.007823	0.20747	T	0.055	0.15663	0.189	0.09907	0.309839678437	0.30585	0.029453254402537748	0.02894	0.0323950101074	0.03388	0.342206776142	0.16768	T	0.080347	0.36341	T	-0.26246	0.12615	T	-0.614782	0.11599	T	0.157779573322856	0.17706	T	0.387861	0.12031	T	0.05341189	0.10104	0.054221295	0.09283	0.05341189	0.10104	0.054221295	0.09283	-4.842	0.35077	T	.	.	0.179	0.41541	B	.;.;.;.;.;.	.;.;.;.;.;.	0.394543	0.07661	4.329	0.42821380526470515	0.03182	0.04408	0.09996	N	AEFI	0.066499	0.13027	N	-0.730319974080733	0.15173	0.7623805	-0.863396352604559	0.12966	0.6700159	2.06479032724992E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	1.34	0.21018	0.087000	0.14801	.	.	-0.169000	0.11342	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0835:0.2994:0.472:0.1451	4.366	0.10660	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	922.33	34	chr4	69939189	.	G	A	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.57;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.325;SOR=0.783	GT:AD:DP:GQ:PL	0/1:31,39:70:99:936,0,840	18	0	1	0
chr4	70158736	70158736	G	A	exonic	PRR27	.	nonsynonymous SNV	PRR27:NM_214711:exon3:c.G484A:p.A162T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0022041180614	7.7e-05	.	4.275e-05	0	0	0	0	3.14e-05	0.0011	0.0001	3.88e-05	6	154602	rs145385271	1.607e-05	1.606e-05	1.667e-05	1.547e-05	0.0004	1.07e-05	8.94e-06	6.175e-05	2.552e-05	0	2.26e-05	0	0	0	0.0004	9.189e-06	6.782e-05	7.123e-05	2.734e-05	2.723e-05	4.015e-05	1.397e-05	4.677e-05	8.39e-06	5.31e-06	1.241e-05	6.44e-06	0	0	0	0	0	0	0.0035	4.677e-05	0	0	0.373	0.11442	T	0.549	0.09457	T	0.01	0.15535	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.53	0.30401	T	-0.09	0.08340	N	0.069	0.04307	-1.0206	0.23519	T	0.034	0.14639	T	9	0.040138364	0.02558	T	0.002204	0.04151	T	0.010	0.01040	.	.	0.0138822411134	0.00435	0.05375508154614455	0.05317	0.0293531961187	0.03023	.	.	.	0.004542	0.03948	T	-0.409057	0.02017	T	-0.643831	0.09393	T	0.0168204613822385	0.00436	T	.	.	.	0.022231974	0.00872	0.043798592	0.05529	0.022231974	0.00872	0.043798592	0.05529	-7.007	0.54085	T	.	.	0.083	0.09433	B	.;.	.;.	-0.326289	0.02504	0.295	0.44447680550879004	0.03418	0.01549	0.05080	N	AEFDI	0.037573	0.05187	N	-1.63838098559284	0.01085	0.04709049	-1.71631837732989	0.01067	0.0479037	1.77398644575569E-4	0.05786	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	3.58	-4.48	0.03267	-3.565000	0.00479	0.512000	0.19089	-0.972000	0.01937	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3744:0.2677:0.3579:0.0	5.045	0.13816	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1587.43	53	chr4	70158736	.	G	A	1587.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=959;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.312;SOR=0.666	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	70158736	70158736	G	0	exonic	PRR27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1587.43	53	chr4	70158736	.	G	*	1587.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=959;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.312;SOR=0.666	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	70528753	70528753	G	A	exonic	AMTN	.	nonsynonymous SNV	AMTN:NM_001286731:exon6:c.G322A:p.A108T,AMTN:NM_212557:exon6:c.G325A:p.A109T	.	446	1066	10	0	0	10	0.00466853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0194414723553	0.0002	0.000998403	0.0010	0	0.0004	0	0	0.0004	0.0012	0.0066	0.0008538	132	154602	rs201205218	0.0005	0.0006	0.0004	0.0007	0.0061	0.0005	0.0005	0.0057	0.0055	6.23e-05	0.0001	0.0004	0	0	0.0043	0.0002	0.0005	0.0061	0.0004	0.0004	0.0002	0.0006	0.0064	0.0003	0.0003	0.0047	0.0041	0	0	6.539e-05	0.0006	0	0	0	0.0004	0.0014	0.0064	0.138	0.26085	T	0.184	0.30926	T	0.728	0.42542	P	0.25	0.39011	B	0.000873	0.41335	N	0.109134	0.932416	0.27022	N	1.87	0.49600	L	-0.17	0.65563	T	-2.75	0.58407	D	0.379	0.42050	-0.9720	0.36776	T	0.141	0.46072	T	10	0.01204133	0.00260	T	0.019441	0.41802	T	0.076	0.22200	.	.	0.668644350172	0.66585	0.22242245000308886	0.22157	0.0836660372965	0.09433	0.316150248051	0.12838	T	0.004593	0.03998	T	-0.418916	0.01738	T	-0.372047	0.36649	T	0.0590986928115781	0.07026	T	0.554445	0.20372	T	0.16979228	0.37516	0.19360559	0.42939	0.16979228	0.37516	0.19360559	0.42938	-3.014	0.10453	T	.	.	0.080	0.08272	B	.;.	.;.	2.416805	0.31068	18.63	0.99805941105971585	0.88995	0.75294	0.36859	D	AEFI	0.133105	0.25265	N	-0.00758172443493024	0.41510	2.484299	0.0748345428069778	0.43287	2.633634	9.98203621879059E-4	0.08103	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.56	3.82	0.43153	0.672000	0.24868	1.939000	0.29818	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1753:0.0:0.8247:0.0	8.881	0.34533	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	903.33	43	chr4	70528753	.	G	A	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.797;DP=752;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7;ReadPosRankSum=1.18;SOR=0.994	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	18	0	1	0
chr4	70705091	70705091	C	A	exonic	RUFY3	.	nonsynonymous SNV	RUFY3:NM_001130709:exon1:c.C155A:p.A52D	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0052	0	0	0	.	0.04	0	0	0.00011	17	154602	rs770623744	0.0013	0.0012	0.0014	0.0013	0.0045	0.0013	0.0013	0.0028	0.0022	0.0001	0.0003	0.0043	0	0.0005	0.0045	0.0014	0.0014	0.0007	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0003	0.0029	0	0.0004	0	0.0013	0.0014	0.0006	0.06	0.37326	T	0.197	0.56640	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-5.25	0.84035	D	0.1	0.08227	-0.9631	0.38586	T	0.021	0.08824	T	8	0.005218327	0.00114	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.06855	0.33487	T	-0.545158	0.00312	T	-0.580485	0.14501	T	0.159272780133707	0.17818	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.209	0.39033	T	.	.	0.144	0.31658	B	.;.	.;.	2.093206	0.26629	17.18	0.98873818688796178	0.47702	0.00400	0.02002	N	AEFDBHCIJ	0.040379	0.05997	N	-0.770890031319576	0.14072	0.6980951	-0.768609918459942	0.15266	0.8020189	0.999998198596944	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.86	-0.336	0.12030	-1.091000	0.03480	1.303000	0.25487	0.442000	0.21104	0.000000	0.06391	0.063000	0.22074	0.317000	0.24900	0.2172:0.3553:0.4275:0.0	5.308	0.15124	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007246	0.007353	0.000000	0.013699	0.000000	0.000000	0.026316	0.000000	0.02632	345.33	35	chr4	70705091	.	C	A	345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=534;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.062;SOR=0.684	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,817	18	0	1	0
chr4	71472944	71472944	C	T	exonic	SLC4A4	.	nonsynonymous SNV	SLC4A4:NM_003759:exon11:c.C1745T:p.S582F,SLC4A4:NM_001098484:exon14:c.C1877T:p.S626F,SLC4A4:NM_001134742:exon14:c.C1877T:p.S626F	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.100075144508	.	.	2.483e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753686491	8.898e-06	8.893e-06	2.724e-06	1.513e-05	0.0002	4.97e-06	3.83e-06	8.889e-05	7.056e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28772	T	0.114	0.41742	T	0.158	0.46109	B	0.389	0.51475	B	0.050535	0.23062	N	0.532328	0.997074	0.43612	D	1.92	0.51302	L	-1.3	0.79571	T	-2.47	0.62343	N	0.438	0.52740	-0.0994	0.80111	T	0.503	0.81256	D	10	0.42635453	0.57199	T	0.100075	0.77213	D	0.510	0.78971	0.499	0.58991	0.407223025684	0.40337	0.821706967644927	0.82127	0.970064706875	0.73332	0.403238832951	0.25520	T	0.586525	0.86540	D	-0.16973	0.25276	T	-0.221903	0.52553	T	0.340146839618683	0.26630	T	0.790621	0.47330	T	0.1656491	0.36851	0.1544231	0.36243	0.1656491	0.36850	0.1544231	0.36243	-8.217	0.62694	D	.	.	0.231	0.46596	B	.;.;.;.;.;.	.;.;.;.;.;.	3.273173	0.44819	22.0	0.98475333415690169	0.41907	0.94260	0.60603	D	AEFGBI	0.617228	0.60349	D	0.0599936391064415	0.44602	2.731355	0.137922232799092	0.46506	2.895445	0.999998918036856	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	4.6	0.56512	1.950000	0.39948	2.245000	0.31642	-0.182000	0.10109	0.999000	0.42656	1.000000	0.68203	0.958000	0.51230	0.0:0.7877:0.139:0.0733	9.855	0.40248	628	0.65206	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	6932.81	34	chr4	71472944	.	C	T	6932.81	.	AC=2;AF=0.053;AN=38;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr4	72147028	72147028	C	T	exonic	NPFFR2	.	nonsynonymous SNV	NPFFR2:NM_004885:exon4:c.C479T:p.A160V,NPFFR2:NM_053036:exon4:c.C479T:p.A160V,NPFFR2:NM_001144756:exon5:c.C488T:p.A163V	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0273809494167	7.7e-05	0.000199681	0.0003	9.641e-05	0.0007	0	0	0.0004	0	0.0001	0.0003169	49	154602	rs201155248	0.0003	0.0003	0.0003	0.0004	0.0165	0.0003	0.0003	0.0138	0.0128	0.0002	0.0008	0.0025	0	0.0001	0.0165	0.0002	0.0007	0.0002	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0008	0.0009	0	0	0.0170	0.0003	0.0038	0	0.031	0.45039	D	0.116	0.36497	T	0.946	0.56202	P	0.718	0.54779	P	0.000030	0.55875	D	0.000000	1	0.81001	D	2.71	0.79292	M	1.04	0.40218	T	-3.49	0.68056	D	0.715	0.71765	-0.6781	0.61460	T	0.230	0.59521	T	10	0.28600973	0.46183	T	0.027381	0.50196	D	0.383	0.70029	.	.	0.599832994901	0.59664	0.9070966354525973	0.90682	0.216282985703	0.24154	0.459649205208	0.33262	T	0.118168	0.43878	T	-0.171724	0.24974	T	-0.112182	0.62437	T	0.157708734273911	0.17700	T	0.871513	0.57764	D	0.32570082	0.55116	0.25961912	0.51713	0.32570082	0.55116	0.25961912	0.51712	-9.16	0.68721	D	.	.	0.257	0.49127	B	.;.;.	.;.;.	3.504348	0.49049	22.7	0.99877167723932536	0.95410	0.98828	0.87388	D	AEFI	0.907409	0.86141	D	0.571565994287012	0.71404	5.645801	0.53391602446316	0.70288	5.483028	0.999999953067997	0.74766	0.553676	0.25195	0	0.624306	0.53593	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	7.779000	0.84281	3.121000	0.36400	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.003000	0.05239	0.0:1.0:0.0:0.0	19.678	0.95940	774	0.48577	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.000000	0.014946	0.035088	0.000000	0.017241	0.003049	0.000000	0.02632	1836.33	33	chr4	72147028	.	C	T	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.276;DP=754;ExcessHet=0;FS=6.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.035;SOR=1.196	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	18	0	1	0
chr4	72147291	72147291	A	-	exonic	NPFFR2	.	frameshift deletion	NPFFR2:NM_004885:exon4:c.742delA:p.R248Gfs*30,NPFFR2:NM_053036:exon4:c.742delA:p.R248Gfs*30,NPFFR2:NM_001144756:exon5:c.751delA:p.R251Gfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.238e-05	9.612e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs752091980	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0	0.0002	0	0	0.0005	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	4.828e-05	0	0	0	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2130.29	33	chr4	72147290	.	CA	C	2130.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.339;DP=777;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.049;SOR=0.847	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	18	0	1	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.05263	5937.83	33	chr4	72283389	.	C	T	5937.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1091;ExcessHet=0.119;FS=1.741;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.989;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr4	73065282	73065282	C	T	exonic	COX18	.	nonsynonymous SNV	COX18:NM_001300729:exon2:c.G575A:p.R192Q,COX18:NM_001297732:exon3:c.G566A:p.R189Q,COX18:NM_001297733:exon3:c.G113A:p.R38Q,COX18:NM_173827:exon3:c.G566A:p.R189Q	.	438	1079	5	0	0	5	0.0023116	.	.	.	3423410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.050432452673	.	.	0.0001	0	0	0	0	5.998e-05	0	0.0007	0.0001035	16	154602	rs201446949	7.458e-05	7.524e-05	5.446e-05	9.49e-05	0.0007	6.316e-05	5.874e-05	0.0006	0.0005	0	0	0.0002	0	1.872e-05	0	2.788e-05	0.0001	0.0007	5.294e-05	5.921e-05	2.584e-05	8.138e-05	0.0004	2.573e-05	1.842e-05	7.333e-05	3.045e-05	0	0	0.0001	0.0003	0	0	0	2.946e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	.	.	.	-3.73	0.70920	D	0.93	0.93487	0.287	0.87343	D	0.590	0.85325	D	9	0.8262638	0.81805	D	0.050432	0.64240	D	0.502	0.78475	.	.	0.53534322723	0.53185	0.9393966105573212	0.93920	1.07586337657	0.76961	0.455601394176	0.32709	T	0.478935	0.80855	T	0.223804	0.76136	D	0.454788	0.93691	D	0.9644455909729	0.66960	D	0.965903	0.87416	D	0.91875964	0.93128	0.8672146	0.92674	0.91875964	0.93129	0.8672146	0.92674	-8.987	0.67613	D	.	.	0.176	0.40131	B	.;.	.;.	5.608276	0.92513	32	0.99957780891220283	0.99986	0.96893	0.71515	D	AEFBI	0.763906	0.70086	D	0.906690701926216	0.92083	11.22416	0.835574565407238	0.92146	11.26128	0.999999999999993	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.57	5.57	0.84021	6.999000	0.76039	5.888000	0.50725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	19.517	0.95162	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	948.33	35	chr4	73065282	.	C	T	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.336;SOR=0.804	GT:AD:DP:GQ:PL	0/1:44,35:79:99:962,0,1141	18	0	1	0
chr4	73412006	73412006	C	T	exonic	ALB	.	nonsynonymous SNV	ALB:NM_000477:exon7:c.C724T:p.R242C	Analbuminemia	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0510634799615	.	.	2.473e-05	0	8.675e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs754953092	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0005	2.151e-05	1.908e-05	0.0001	7.838e-05	0	6.708e-05	0	0	0	0.0005	1.709e-05	4.968e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.981	0.86255	D	0.951509	0.08284	N	0.979822	0.999989	0.18198	N	2.915	0.84231	M	-0.88	0.74689	T	-4.42	0.79659	D	0.466	0.56748	-0.9390	0.42774	T	0.153	0.48291	T	10	0.6966975	0.72188	D	0.051063	0.64505	D	0.543	0.80960	0.744	0.87570	0.89305311408	0.89199	0.6057388224713427	0.60504	0.920899058271	0.71449	0.285074472427	0.08209	T	0.432448	0.78021	T	-0.110649	0.34662	T	-0.160048	0.58349	T	0.721924600769641	0.41796	D	0.950605	0.81304	D	0.47771606	0.65761	0.39684358	0.64315	0.47771606	0.65762	0.39684358	0.64315	-10.735	0.78185	D	0.8360328783640325	0.90570	0.486	0.70803	A	.;.;.;.;.	.;.;.;.;.	3.957315	0.58015	23.9	0.99871158872341326	0.94902	0.17158	0.19715	N	AEFBHCI	0.779026	0.71135	D	-0.264167414730531	0.30543	1.703957	-0.382332727050436	0.25524	1.404163	0.999992854498552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.02	1.34	0.21018	-0.238000	0.08995	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.4984:0.297:0.0:0.2046	4.512	0.11325	814	0.42100	Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1867.33	33	chr4	73412006	.	C	T	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=772;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.355;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1371	18	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.02632	865.33	33	chr4	73442372	.	A	C	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.602;DP=696;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.632;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	18	0	1	0
chr4	73869681	73869681	C	T	exonic	CXCL1	.	nonsynonymous SNV	CXCL1:NM_001511:exon2:c.C113T:p.A38V	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00479082268789	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs201091698	0.0001	0.0001	6.126e-05	0.0001	0.0035	9.115e-05	8.645e-05	0.0023	0.0019	0	0.0002	0	0	0	0.0035	3.777e-05	0.0002	0.0008	9.846e-05	9.841e-05	6.422e-05	0.0001	0.0014	6.001e-05	4.875e-05	0.0007	0.0005	0	0	0.0002	0.0003	0	0	0	5.879e-05	0	0.0014	0.523	0.07187	T	0.629	0.07220	T	0.001	0.07471	B	0.019	0.18783	B	0.671169	0.10340	N	0.868290	1	0.08975	N	0.165	0.08973	N	1.55	0.29866	T	-0.69	0.19720	N	0.134	0.13055	-0.9630	0.38606	T	0.033	0.14117	T	10	0.0109891	0.00242	T	0.004791	0.11973	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.12080034057420752	0.12007	0.123718543078	0.13920	0.448503553867	0.31739	T	0.115297	0.43378	T	-0.652804	0.00070	T	-0.811321	0.01635	T	0.771503388881683	0.44530	D	0.160084	0.01443	T	0.03503785	0.04047	0.037996657	0.03572	0.03503785	0.04047	0.037996657	0.03571	-4.08	0.24994	T	.	.	0.082	0.08948	B	.	.	-1.203186	0.00527	0.012	0.83055295649272098	0.14518	0.01912	0.05850	N	ALL	0.051918	0.09217	N	-1.82293793063761	0.00491	0.02114847	-1.88660079610653	0.00520	0.02306572	0.999999999996476	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.05	-7.71	0.01116	-1.837000	0.01782	-8.333000	0.00987	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7225:0.1246:0.153	12.871	0.57354	429	0.80881	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1987.33	34	chr4	73869681	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.968;DP=847;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.917;SOR=0.566	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1364	18	0	1	0
chr4	74225394	74225394	G	-	exonic	MTHFD2L	.	frameshift deletion	MTHFD2L:NM_001144978:exon6:c.805delG:p.G269Vfs*5,MTHFD2L:NM_001004346:exon7:c.631delG:p.G211Vfs*5,MTHFD2L:NM_001351311:exon7:c.631delG:p.S212Lfs*33,MTHFD2L:NM_001351310:exon8:c.631delG:p.S212Lfs*33,MTHFD2L:NM_001351314:exon8:c.424delG:p.G142Vfs*5	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1236.29	95	chr4	74225393	.	AG	A	1236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=725;ExcessHet=0;FS=9.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=2.28;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	18	0	1	0
chr4	74750714	74750714	T	C	exonic	BTC	.	nonsynonymous SNV	BTC:NM_001729:exon4:c.A287G:p.D96G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00756126959653	.	0.000399361	0.0009	0	8.637e-05	0.0001	0.0015	0.0008	0.0011	0.0024	0.0007503	116	154602	rs199618373	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	0	2.25e-05	0	0.0002	0.0009	0.0010	0.0001	0.0004	0.0026	0.0002	0.0002	0.0001	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	4.811e-05	0	0.0001	0	0	0.0010	0	0.0001	0.0005	0.0031	0.018	0.50676	D	0.028	0.54934	D	0.688	0.41582	P	0.276	0.40142	B	0.005955	0.32383	N	0.341890	0.700256	0.33414	D	1.65	0.42232	L	2.52	0.14160	T	-2.95	0.61580	D	0.444	0.48227	-1.0073	0.27758	T	0.044	0.18742	T	10	0.019601345	0.00440	T	0.007561	0.20060	T	0.097	0.27909	.	.	0.457922657367	0.45416	0.6013541664113288	0.60066	0.0582224252994	0.06448	0.415858328342	0.27266	T	0.746926	0.93034	D	-0.441342	0.01270	T	-0.41166	0.32033	T	0.0668191510158228	0.08197	T	0.857714	0.54741	D	0.17567264	0.38438	0.28970918	0.54992	0.17567264	0.38438	0.28970918	0.54991	-8.186	0.62330	D	.	.	0.183	0.39697	B	.	.	4.250972	0.64526	24.7	0.99480470993121717	0.66850	0.91781	0.54249	D	AEFGI	0.605483	0.59618	D	0.364699219649446	0.59520	4.132092	0.428848071137075	0.63371	4.569329	0.878865822802503	0.25575	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	5.540000	0.66915	5.655000	0.49197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	13.871	0.63119	910	0.22284	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1382.33	34	chr4	74750714	.	T	C	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.244;DP=773;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.075;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	18	0	1	0
chr4	74755955	74755955	C	T	exonic	BTC	.	nonsynonymous SNV	BTC:NM_001316963:exon3:c.G185A:p.R62Q,BTC:NM_001729:exon3:c.G185A:p.R62Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00548955718424	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0.0011	0.0013	0.0002393	37	154602	rs375367986	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	2.987e-05	6.708e-05	0	0	0	0.0007	0.0001	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0008	8.664e-05	7.256e-05	0.0003	0.0002	0.0001	0	0	0	0.0004	0	0	0.0001	0	0.0008	0.332	0.13045	T	0.257	0.23231	T	0.954	0.54400	P	0.354	0.42942	B	0.043992	0.23684	N	0.483385	0.999393	0.21260	N	2.425	0.70256	M	2.51	0.14284	T	-0.77	0.21429	N	0.152	0.15609	-1.0252	0.22017	T	0.028	0.11926	T	10	0.01362294	0.00288	T	0.00549	0.14136	T	0.061	0.17616	.	.	0.453307948783	0.44952	0.6590042748871443	0.65837	0.0881398853638	0.09959	0.207825049758	0.00722	T	0.315272	0.68689	T	-0.56798	0.00228	T	-0.629173	0.10477	T	0.0717054978687453	0.08888	T	0.615039	0.23503	T	0.021933636	0.00824	0.03689039	0.03227	0.021933636	0.00824	0.03689039	0.03226	-6.579	0.50892	T	.	.	0.077	0.06250	B	.	.	1.642308	0.20957	14.99	0.97142373516633029	0.32547	0.08293	0.14241	N	AEFBI	0.098215	0.19796	N	-0.517312354216544	0.21519	1.142668	-0.641844425137998	0.18423	0.9840754	0.00169179460130855	0.08790	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	1.96	0.25203	0.348000	0.19784	0.499000	0.18978	-0.172000	0.11096	0.002000	0.15269	0.000000	0.08366	0.903000	0.43903	0.1475:0.6263:0.1427:0.0835	5.219	0.14680	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2348.81	33	chr4	74755955	.	C	T	2348.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.73;SOR=1.003	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	18	1	0	0
chr4	75012704	75012704	G	C	exonic	PARM1	.	nonsynonymous SNV	PARM1:NM_015393:exon2:c.G323C:p.G108A	.	427	1069	25	1	0	27	0.0124711	.	.	.	698629	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0068	0.00439297	0.0069	0.0016	0.0057	0	0.0053	0.0099	0.0089	0.0028	0.0068046	1052	154602	rs35489484	0.0080	0.0080	0.0080	0.0080	0.0147	0.0079	0.0078	0.0122	0.0113	0.0012	0.0056	0.0363	0	0.0054	0.0147	0.0083	0.0092	0.0031	0.0060	0.0060	0.0061	0.0059	0.0079	0.0057	0.0056	0.0074	0.0072	0.0019	0	0.0054	0.0360	0.0002	0.0052	0.0136	0.0079	0.0104	0.0021	0.029	0.45756	D	0.781	0.04316	T	0.356	0.33761	B	0.115	0.31843	B	0.361759	0.13659	N	0.629622	1	0.08975	N	1.385	0.34509	L	0.94	0.43672	T	-1.63	0.39119	N	0.135	0.13198	-1.0431	0.16383	T	0.033	0.14203	T	10	0.0029345155	0.00047	T	.	.	.	0.016	0.02506	.	.	0.183819452728	0.17975	0.17113161244794653	0.17033	0.4958697666	0.48115	0.244511067867	0.03212	T	0.004081	0.03492	T	-0.563973	0.00240	T	-0.573489	0.15131	T	0.00303491343539984	0.00032	T	0.518148	0.16784	T	0.04519569	0.07355	0.05171733	0.08379	0.04519569	0.07355	0.05171733	0.08378	-2.942	0.09569	T	.	.	0.087	0.11076	B	.	.	0.835362	0.12070	8.623	0.90813975057967	0.20062	0.03334	0.08411	N	AEFDBI	0.110943	0.21982	N	-1.17381300362104	0.05398	0.2460147	-1.24168389630744	0.05255	0.2499702	0.987967867817081	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.0	-0.683	0.10765	0.300000	0.18911	0.029000	0.13704	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1107:0.2824:0.4442:0.1627	2.722	0.04882	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.010101	0.009511	0.000000	0.050000	0.000000	0.012195	0.000000	0.02632	3185.33	43	chr4	75012704	.	G	C	3185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.326;DP=881;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.234;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1407	18	0	1	0
chr4	75527023	75527023	G	A	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon4:c.G352A:p.G118S,THAP6:NM_144721:exon5:c.G478A:p.G160S	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0221904889978	0.0048	0.00119808	0.0028	0.0011	0.0004	0	0.0026	0.0042	0.0022	0.0010	0.0031306	484	154602	rs141771853	0.0052	0.0052	0.0053	0.0051	0.0063	0.0051	0.0050	0.0062	0.0061	0.0006	0.0008	0.0002	0.0001	0.0023	0.0005	0.0063	0.0043	0.0010	0.0030	0.0030	0.0032	0.0027	0.0052	0.0027	0.0026	0.0048	0.0046	0.0010	0	0.0014	0	0.0002	0.0022	0	0.0052	0.0028	0.0008	0.749	0.03598	T	0.814	0.04247	T	0.0	0.02946	B	0.0	0.01387	B	0.869079	0.08838	N	0.939139	1	0.81001	D	-0.895	0.01383	N	-4.24	0.97030	D	0.76	0.01978	N	0.05	0.09066	-0.2038	0.77572	T	0.586	0.85131	D	10	0.004345596	0.00088	T	0.02219	0.45053	T	0.154	0.40340	.	.	0.427940940899	0.42412	0.08407438253504529	0.08341	0.187286491638	0.21046	0.298370063305	0.10158	T	0.002606	0.01994	T	-0.38134	0.03056	T	-0.313011	0.43334	T	0.00318038637706738	0.00033	T	0.548145	0.18826	T	0.03315369	0.03479	0.046231773	0.06399	0.03315369	0.03479	0.046231773	0.06398	-1.624	0.02309	T	.	.	0.057	0.00636	B	.;.;.	.;.;.	1.352042	0.17601	13.26	0.83716021772618321	0.14879	0.13038	0.17627	N	AEFBI	0.056709	0.10505	N	-0.77160241975018	0.14053	0.6969947	-0.579596429712828	0.20025	1.077084	0.646619816437754	0.22113	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.46	1.83	0.24279	1.852000	0.38988	3.962000	0.40756	-0.102000	0.15922	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.7074:0.1923:0.1003:0.0	4.678	0.12104	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1772.33	33	chr4	75527023	.	G	A	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.559;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr4	75564159	75564159	C	T	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_001257072:exon2:c.C113T:p.A38V,ODAPH:NM_178497:exon2:c.C113T:p.A38V,ODAPH:NM_001206981:exon3:c.C157T:p.R53W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00524529313922	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0013	0.0001552	24	154602	rs374774709	0.0001	0.0001	8.303e-05	0.0002	0.0013	0.0001	9.966e-05	0.0011	0.0010	0	0	0	0	3.744e-05	0.0002	4.856e-05	0.0001	0.0013	3.94e-05	3.937e-05	0	8.059e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.426	0.09658	T	0.234	0.24840	T	0.003	0.11197	B	0.005	0.11217	B	0.413363	0.04604	N	1.451660	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.27	0.11366	N	0.074	0.04790	-0.9559	0.39934	T	0.073	0.29515	T	10	0.008630097	0.00196	T	0.005245	0.13371	T	0.038	0.09825	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.003635	0.03040	T	-0.508505	0.00512	T	-0.55365	0.16978	T	0.00824453678199253	0.00099	T	0.585041	0.21304	T	0.017935049	0.00316	0.026215326	0.00700	0.017935049	0.00316	0.026215326	0.00700	-3.455	0.15807	T	0.06337201472697633	0.01943	0.087	0.11989	B	.;.	.;.	0.088358	0.04928	1.501	0.44044515082711166	0.03358	0.00371	0.01888	N	AEFI	0.031574	0.03406	N	-1.61228579621755	0.01204	0.05236187	-1.72625521586043	0.01026	0.04602234	0.999298134611086	0.39042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.9	-9.79	0.00411	-1.217000	0.03089	-3.500000	0.02739	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3894:0.3052:0.3054	7.448	0.26392	938	0.14419	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2210.33	33	chr4	75564159	.	C	T	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=927;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.08;SOR=0.822	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	75564323	75564323	T	C	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_178497:exon2:c.T277C:p.S93P	.	9	1495	18	0	0	18	0.00598404	.	.	.	709460	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.023	.	0.0091	0.00299521	0.0062	0.0012	0.0027	0.0002	0.0071	0.0090	0.0066	0.0035	0.0064488	997	154602	rs140756390	0.0092	0.0092	0.0094	0.0090	0.0107	0.0091	0.0090	0.0105	0.0105	0.0013	0.0044	0.0060	2.519e-05	0.0061	0.0045	0.0107	0.0079	0.0034	0.0067	0.0067	0.0069	0.0066	0.0102	0.0064	0.0062	0.0096	0.0094	0.0015	0.0011	0.0088	0.0040	0.0002	0.0075	0.0068	0.0102	0.0090	0.0029	0.978	0.02017	T	0.687	0.05976	T	0.0	0.02946	B	0.0	0.01387	B	0.244876	0.15633	N	0.530450	1	0.08975	N	.	.	.	1.54	0.30133	T	2.5	0.00234	N	0.062	0.03392	-1.0065	0.28004	T	0.023	0.09741	T	9	0.0036925077	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	3.92E-4	0.00124	T	-0.496481	0.00598	T	-0.47426	0.25058	T	0.000306451671654251	0.00002	T	0.251175	0.03802	T	0.05880656	0.11876	0.094854295	0.22470	0.061065245	0.12601	0.094854295	0.22469	-2.003	0.03192	T	0.029427085984377505	0.00071	0.059	0.00834	B	.	.	1.256510	0.16537	12.60	0.90067394681347235	0.19352	0.00037	0.00318	N	AEFI	0.009759	0.00060	N	-1.11947166504721	0.06297	0.2895017	-1.09129166011743	0.07871	0.3846185	0.0118062988804829	0.12238	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.27	2.51	0.29435	1.239000	0.32322	0.844000	0.22071	-0.201000	0.08892	0.016000	0.19238	0.000000	0.08366	0.222000	0.22517	0.0:0.762:0.0:0.238	6.291	0.20269	938	0.14419	.	NUP54	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.005848	0.000000	0.008621	0.024390	0.007576	0.02632	2365.33	33	chr4	75564323	.	T	C	2365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=1021;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.354;SOR=0.595	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	75647116	75647116	T	C	exonic	G3BP2	.	nonsynonymous SNV	G3BP2:NM_203504:exon9:c.A871G:p.I291V,G3BP2:NM_012297:exon10:c.A970G:p.I324V,G3BP2:NM_203505:exon10:c.A970G:p.I324V	.	450	1069	3	0	0	3	0.00140121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	0.00319489	0.0009	0	0	0	0	7.539e-05	0	0.0065	0.0008279	128	154602	rs200985641	0.0004	0.0004	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	3.016e-05	0	0	0	0	0.0005	2.182e-05	0.0005	0.0067	0.0004	0.0004	0.0002	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.404e-05	0	0	0	0	0	0	0.0001	0	0.0097	0.607	0.09155	T	0.764	0.05398	T	0.004	0.12183	B	0.002	0.06944	B	0.000001	0.62929	D	0.134473	0.995833	0.44071	D	1.525	0.38595	L	-1.01	0.76168	T	0.04	0.06488	N	0.1	0.09914	-0.8747	0.50173	T	0.211	0.57188	T	10	0.0055274963	0.00122	T	.	.	.	0.213	0.50496	.	.	0.548595629315	0.54515	0.252007837481302	0.25114	0.957395983082	0.72880	0.693578004837	0.66220	T	0.098639	0.40266	T	-0.402539	0.02228	T	-0.347828	0.39452	T	0.0400211962370235	0.03695	T	0.833317	0.58094	T	0.06829335	0.14865	0.07461933	0.16342	0.06829335	0.14865	0.07461933	0.16342	-4.251	0.28274	T	.	.	0.084	0.21728	B	.;.;.	.;.;.	2.397548	0.30800	18.55	0.96106277925239258	0.28730	0.96945	0.71803	D	AEBI	0.476592	0.51994	N	-0.298931687666399	0.29190	1.61654	-0.054871385323278	0.37280	2.180679	0.999264736926352	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	4.84	0.62125	4.482000	0.59989	5.066000	0.47133	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.13:0.87	13.537	0.61111	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	658.33	40	chr4	75647116	.	T	C	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=763;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.206;SOR=0.573	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr4	75860692	75860692	C	G	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon17:c.G2237C:p.G746A	.	426	1094	1	1	0	3	0.00136924	.	.	.	2215346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.0128248922592	.	.	2.475e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs780494701	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0003	1.584e-05	1.356e-05	6.115e-05	2.53e-05	2.987e-05	0	0	0	0	0.0003	2.068e-05	6.624e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.018	0.17786	B	0.008	0.13708	B	0.345795	0.13893	N	0.673538	1	0.08975	N	0.805	0.20218	L	1.03	0.40469	T	-0.39	0.13611	N	0.08	0.05542	-1.0375	0.18078	T	0.049	0.20829	T	10	0.0638296	0.08374	T	0.012825	0.31723	T	0.011	0.01250	0.134	0.03833	0.431490205687	0.42766	0.3687120664806053	0.36785	0.159961595107	0.18046	0.22586004436	0.01676	T	0.029373	0.21062	T	-0.338112	0.05520	T	-0.626597	0.10673	T	0.048565502948419	0.05245	T	0.442056	0.12263	T	0.033027016	0.03441	0.037123803	0.03300	0.033027016	0.03441	0.037123803	0.03299	-3.429	0.15449	T	.	.	0.083	0.09094	B	.	.	-0.107350	0.03596	0.704	0.60440626071583536	0.06464	0.05460	0.11339	N	AEFDBI	0.059339	0.11202	N	-1.00539487300918	0.08492	0.3983292	-0.97314300293866	0.10390	0.5230406	0.246995485563577	0.18637	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.44	2.65	0.30588	-0.134000	0.10415	-1.373000	0.05593	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6346:0.1715:0.1939	5.051	0.13847	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1614.33	161	chr4	75860692	.	C	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.208;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.419;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1346	18	0	1	0
chr4	75876611	75876611	T	G	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon11:c.A996C:p.R332S	.	.	.	.	.	.	.	.	.	.	.	3591083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0124594872708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303723776	1.242e-05	1.231e-05	8.228e-06	1.666e-05	0.0005	7.76e-06	6.4e-06	0.0001	7.654e-05	0	0	0	0	0	0.0005	1.084e-05	5.024e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	0.658	0.11041	T	0.042	0.21471	B	0.042	0.24114	B	0.012850	0.01347	N	3.171070	1	0.08975	N	1.185	0.30054	L	1.11	0.38883	T	-0.15	0.09297	N	0.145	0.16168	-1.0600	0.11756	T	0.067	0.27434	T	10	0.0637393	0.08349	T	0.012459	0.31052	T	0.014	0.01968	0.417	0.45709	0.17258766438	0.16869	0.3002957081772375	0.29942	0.167897587978	0.18931	0.206551715732	0.00673	T	0.018355	0.14809	T	-0.309041	0.07833	T	-0.681693	0.06881	T	0.021773463141928	0.00883	T	0.458554	0.15685	T	0.08750637	0.20380	0.039030235	0.03904	0.08750637	0.20379	0.039030235	0.03904	-3.482	0.17367	T	.	.	0.144	0.32445	B	.;.	.;.	-0.686762	0.01351	0.076	0.3416387431681055	0.02075	0.02661	0.07276	N	AEFBI	0.113468	0.22387	N	-1.63394501142142	0.01104	0.04795077	-1.69410023145009	0.01163	0.05235382	0.00999065965042495	0.11946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.94	-3.35	0.04620	-1.238000	0.03029	-0.308000	0.10061	-0.843000	0.02775	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3934:0.1524:0.4541	5.565	0.16451	904	0.23766	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	38	chr4	75876611	.	T	G	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=701;ExcessHet=0;FS=2.121;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.624;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr4	75890027	75890027	C	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon5:c.G347A:p.G116E	.	.	.	.	.	.	.	.	.	.	.	4045764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.684	0.083037107475	0.0002	.	4.942e-05	0	0	0	0	8.99e-05	0	0	4.53e-05	7	154602	rs371806117	3.489e-05	3.489e-05	2.859e-05	4.125e-05	0.0007	2.697e-05	2.438e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.227e-05	0	0	3.946e-05	3.941e-05	2.571e-05	5.386e-05	8.822e-05	1.717e-05	1.13e-05	3.763e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.66	0.94269	H	0.24	0.59583	T	-7.51	0.95074	D	0.961	0.97095	0.085	0.83901	D	0.457	0.78872	T	10	0.96216685	0.95641	D	0.083037	0.74030	D	0.684	0.88443	.	.	0.915572184745	0.91472	0.911648623352375	0.91138	0.739975342488	0.63197	0.59905898571	0.52771	T	0.474212	0.80575	T	0.206503	0.74502	D	0.239147	0.85110	D	0.994751989841461	0.86243	D	0.976402	0.91778	D	0.90382457	0.91727	0.9235718	0.96648	0.90382457	0.91728	0.9235718	0.96649	-12.318	0.86366	D	.	.	0.925	0.84615	P	.;.	.;.	4.001240	0.58965	24.0	0.99761773129191555	0.85091	0.98983	0.89528	D	AEFDBI	0.926220	0.90698	D	0.717622006602248	0.80787	7.372408	0.607480537628094	0.75482	6.318328	0.999999662459822	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	7.378000	0.78957	7.154000	0.57685	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	0.0:1.0:0.0:0.0	15.361	0.74193	900	0.24599	PPP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	33	chr4	75890027	.	C	T	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.809;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.103;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1241	18	0	1	0
chr4	75957683	75957683	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon18:c.T1493C:p.M498T,SDAD1:NM_001288984:exon19:c.T1313C:p.M438T,SDAD1:NM_018115:exon19:c.T1604C:p.M535T	.	435	1080	7	0	0	7	0.00323027	.	.	.	2822592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00279553	0.0053	0.0006	0.0004	0	0.0296	0.0061	0.0088	0.0012	0.0048706	753	154602	rs114534142	0.0051	0.0051	0.0050	0.0051	0.0050	0.0050	0.0049	0.0049	0.0048	0.0007	0.0007	0.0014	0	0.0261	0.0024	0.0050	0.0040	0.0013	0.0046	0.0046	0.0043	0.0049	0.0056	0.0043	0.0042	0.0051	0.0050	0.0006	0.0011	0.0009	0.0012	0	0.0250	0	0.0056	0.0009	0.0010	0.709	0.04148	T	0.594	0.08134	T	0.0	0.02946	B	0.002	0.06944	B	0.533790	0.11610	N	0.815477	1	0.08975	N	0.06	0.08197	N	2.05	0.20664	T	0.19	0.05503	N	0.055	0.06720	-0.9545	0.40185	T	0.015	0.05801	T	10	0.0017833412	0.00023	T	.	.	.	0.010	0.01040	.	.	0.101711395817	0.09552	0.1075196926481377	0.10680	0.0614379002088	0.06845	0.212230697274	0.00909	T	0.004499	0.03907	T	-0.64445	0.00078	T	-0.692935	0.06220	T	0.00304556858701323	0.00032	T	0.487551	0.14930	T	0.047017943	0.07968	0.06709048	0.13832	0.047017943	0.07968	0.06709048	0.13832	-2.807	0.08248	T	.	.	0.066	0.02257	B	.;.	.;.	0.845266	0.12171	8.719	0.47605109599516915	0.03905	0.09519	0.15257	N	AEFBI	0.070198	0.13925	N	-0.998821430156393	0.08630	0.405332	-0.917382945242897	0.11684	0.5967665	9.27303907318025E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.25	-0.151	0.12755	0.660000	0.24691	1.239000	0.25094	0.751000	0.87719	0.001000	0.13787	0.000000	0.08366	0.911000	0.44643	0.4486:0.0:0.5514:0.0	8.123	0.30140	802	0.44336	SDA1 domain;SDA1 domain	.	.	.	.	rs114534142	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1759.33	45	chr4	75957683	.	A	G	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=1422;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.987;SOR=0.557	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	76144471	76144471	C	T	exonic	NUP54	.	nonsynonymous SNV	NUP54:NM_001278603:exon2:c.G70A:p.G24R,NUP54:NM_017426:exon2:c.G70A:p.G24R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0050781477993	.	.	8.334e-06	0	0	0	0	0	0	6.192e-05	6.5e-06	1	154602	rs754506336	6.289e-06	6.841e-06	5.556e-06	7.031e-06	0.0001	2.96e-06	2.14e-06	5.956e-05	4.375e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.91255	D	0.066	0.60972	T	0.0	0.02946	B	0.001	0.04355	B	0.008006	0.31069	N	0.385357	0.959995	0.81001	D	1.175	0.29870	L	.	.	.	-2.87	0.90254	D	0.617	0.63289	-0.7710	0.56803	T	0.207	0.56622	T	9	0.22527823	0.39353	T	0.005078	0.12877	T	0.180	0.45073	0.301	0.26843	0.223474106383	0.21959	0.6793147191729403	0.67870	0.398762958265	0.40930	0.628750920296	0.56967	T	0.185997	0.53915	T	-0.133262	0.30969	T	-0.203496	0.54314	T	0.721553087234497	0.41777	D	0.844715	0.52235	T	0.21035317	0.43329	0.17572999	0.40059	0.21035317	0.43329	0.17572999	0.40059	-12.296	0.86262	D	.	.	0.654	0.80150	P	.;.;.	.;.;.	5.257680	0.88276	29.5	0.99606320749006649	0.74516	0.86399	0.45671	D	AEFDBI	0.263025	0.38065	N	0.0686011861750199	0.45001	2.764204	0.231524177421162	0.51603	3.341598	0.999986528428204	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.74	4.72	0.59248	2.985000	0.49051	5.805000	0.49965	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.9174:0.0:0.0826	13.900	0.63303	882	0.29131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	530.33	12	chr4	76144471	.	C	T	530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.375;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.19;SOR=0.756	GT:AD:DP:GQ:PL	0/0:25,0:25:45:0,45,675	18	0	1	0
chr4	76181100	76181100	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon3:c.G277A:p.E93K	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	4	1511	7	0	0	7	0.00231099	0.9926	0.884	.	201796	Inborn_genetic_diseases|not_specified|not_provided|Progressive_myoclonic_epilepsy|Action_myoclonus-renal_failure_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.0995220360373	0.0003	.	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001358	21	154602	rs145870223	0.0002	0.0002	0.0002	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	6.714e-05	3.831e-05	0	0	0.0038	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.407e-05	0	6.541e-05	0	0	0	0	0.0003	0	0.0002	0.008	0.58626	D	0.019	0.59159	D	0.985	0.61118	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.04	0.55661	M	-1.19	0.78427	T	-2.98	0.62008	D	0.93	0.93487	0.287	0.87346	D	0.654	0.87954	D	10	0.8009062	0.79494	D	0.099522	0.77121	D	0.778	0.92583	.	.	0.897776043887	0.89676	0.9027316031166935	0.90245	0.714765047335	0.61905	0.567961812019	0.48390	T	0.631446	0.88583	D	0.150745	0.69338	D	0.274951	0.86849	D	0.390520513057709	0.28584	T	0.961404	0.86967	D	0.8761176	0.89350	0.646753	0.79344	0.8216124	0.85330	0.6862685	0.81552	-10.837	0.78756	D	0.6198474372660747	0.68811	0.633	0.75352	P	.;.;.;.	.;.;.;.	5.448920	0.91027	32	0.99928526407763019	0.99222	0.98191	0.80395	D	AEFBI	0.901414	0.84808	D	0.830579277777876	0.87975	9.408302	0.793851788982081	0.89363	9.943953	0.999999999548898	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	6.612000	0.74059	5.787000	0.49843	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.0:1.0:0.0:0.0	19.040	0.92976	892	0.26670	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1060.33	33	chr4	76181100	.	C	T	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.703;DP=681;ExcessHet=0;FS=5.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.17;SOR=0.28	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	18	0	1	0
chr4	76251751	76251751	C	G	exonic	FAM47E;FAM47E-STBD1	.	nonsynonymous SNV	FAM47E:NM_001136570:exon1:c.C5G:p.A2G,FAM47E-STBD1:NM_001242939:exon1:c.C5G:p.A2G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0974812709017	.	0.000998403	0.0002	0	0	0	.	0.0009	0	0	4.53e-05	7	154602	rs578009899	0.0001	0.0001	9.616e-05	0.0001	0.0006	9.127e-05	8.621e-05	0.0002	8.948e-05	0	3.401e-05	0.0006	0	0	0.0006	0.0001	9.033e-05	0.0002	0.0001	0.0001	7.709e-05	0.0002	0.0010	9.144e-05	7.7e-05	0.0004	0.0003	2.406e-05	0	0.0001	0.0012	0	0	0	0.0001	0.0005	0.0010	0.236	0.20154	T	0.191	0.41573	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.531308	0.31977	D	0.675	0.16386	N	0.53	0.55090	T	-1.68	0.40082	N	0.061	0.03283	-1.0503	0.14313	T	0.051	0.21533	T	9	0.012729645	0.00272	T	0.097481	0.76780	D	0.010	0.01040	0.286	0.24440	0.0138822411134	0.00435	0.045041955246726946	0.04448	0.0307899206194	0.03180	0.645002841949	0.59275	T	0.001038	0.00564	T	-0.456262	0.01037	T	-0.667463	0.07771	T	0.0297009246653958	0.01944	T	0.252075	0.03833	T	0.06348697	0.13372	0.09320042	0.22002	0.06348697	0.13372	0.09320042	0.22002	-4.348	0.28844	T	.	.	0.061	0.01161	B	.;.	.;.	0.870636	0.12432	8.969	0.53308511084140153	0.04914	0.16316	0.19332	N	ALL	0.053010	0.09514	N	-1.71346948861226	0.00795	0.03435489	-1.74282442790023	0.00961	0.04302074	0.999999999999671	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.289072	0.05449	1	0.554799	0.18163	0	.	.	3.08	-2.33	0.06340	-0.299000	0.08291	-0.758000	0.07548	-2.118000	0.00386	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.3968:0.3737:0.1335:0.096	2.987	0.05606	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	20	chr4	76251751	.	C	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.635;SOR=0.826	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,638	18	0	1	0
chr4	76278141	76278141	C	-	exonic	FAM47E;FAM47E-STBD1	.	frameshift deletion	FAM47E:NM_001136570:exon6:c.943delC:p.Q315Kfs*3,FAM47E:NM_001242936:exon6:c.649delC:p.Q217Kfs*3,FAM47E-STBD1:NM_001242939:exon6:c.943delC:p.Q315Kfs*3	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs772796101	1.716e-05	1.71e-05	1.552e-05	1.885e-05	0.0007	1.161e-05	9.76e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.343e-06	6.901e-05	8.846e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2057.29	35	chr4	76278140	.	GC	G	2057.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=734;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=0.978;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr4	76323301	76323301	C	T	splicing	CCDC158	NM_001042784:exon23:c.3265+1G>A	.	.	.	432	1087	2	1	0	4	0.00183655	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.323e-05	0	0	0	0	1.502e-05	0	0.0002	2.59e-05	4	154602	rs773600556	2.272e-05	2.257e-05	1.919e-05	2.628e-05	0.0005	1.62e-05	1.425e-05	0.0001	7.568e-05	0	0	3.843e-05	0	0	0.0005	1.267e-05	6.663e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225306	0.76278	D	0.322529	0.89195	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.507804	0.91651	32	0.99458818421025752	0.65684	0.83204	0.42341	D	AEFBI	.	.	.	1.07287293285858	0.97599	16.41083	0.911249591277059	0.96045	14.24091	0.102146885802665	0.16405	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.980857	0.86291	5.07	5.07	0.68106	3.581000	0.53658	7.497000	0.59440	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	14.150	0.64910	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1844.33	34	chr4	76323301	.	C	T	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=785;ExcessHet=0;FS=3.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.045;SOR=0.452	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	76741720	76741720	C	T	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3547T:p.R1183W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00745707599219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.13e-07	4.788e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.718e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.022	0.57587	D	0.072	0.23997	B	0.008	0.13708	B	0.403603	0.04549	N	1.415430	1	0.08975	N	2.67	0.78151	M	1.89	0.23688	T	-0.99	0.26200	N	0.248	0.28028	-0.9701	0.37179	T	0.059	0.24575	T	10	0.07696858	0.12089	T	0.007457	0.19792	T	0.056	0.15993	0.27	0.21893	0.273495378476	0.26946	0.25086407044291753	0.25000	0.329912800313	0.35087	0.619096755981	0.55602	T	0.081955	0.36717	T	-0.211767	0.19130	T	-0.541965	0.18105	T	0.153738304972649	0.17398	T	0.877212	0.59013	D	0.0433919	0.06755	0.039589424	0.04085	0.0433919	0.06755	0.039589424	0.04085	-4.634	0.32596	T	.	.	0.086	0.16319	B	.;.	.;.	2.239808	0.28600	17.85	0.99691066890488922	0.79909	0.04841	0.10572	N	AEFDBI	0.113766	0.22434	N	-0.990161426795719	0.08813	0.4146716	-1.14283472580968	0.06897	0.3335945	0.999999002071498	0.74766	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.34	-5.08	0.02708	-0.776000	0.04780	-0.678000	0.07901	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5079:0.1936:0.172:0.1266	3.398	0.06890	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1189.33	38	chr4	76741720	.	C	T	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.628;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	18	0	1	0
chr4	76755156	76755156	A	C	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon7:c.A4673C:p.Q1558P	.	416	1076	29	1	0	31	0.0142006	.	.	.	698634	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.0037885494291	0.0028	0.00199681	0.0029	0.0006	0.0029	0.0001	0.0007	0.0040	0.0070	0.0023	0.0028913	447	154602	rs138661793	0.0028	0.0028	0.0027	0.0029	0.0246	0.0027	0.0027	0.0213	0.0201	0.0005	0.0034	0.0216	5.038e-05	0.0006	0.0246	0.0024	0.0048	0.0027	0.0031	0.0031	0.0033	0.0029	0.0074	0.0029	0.0028	0.0063	0.0059	0.0008	0.0099	0.0074	0.0225	0	0.0008	0.0374	0.0030	0.0052	0.0015	0.311	0.13971	T	0.227	0.25362	T	0.001	0.07471	B	0.002	0.06944	B	0.164302	0.03063	N	1.835150	1	0.08975	N	0.49	0.13296	N	2.1	0.19990	T	-0.16	0.09460	N	0.076	0.05037	-1.0477	0.15045	T	0.015	0.05801	T	10	0.0039895773	0.00077	T	0.003789	0.08837	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.10522535568034377	0.10452	0.375884268268	0.39039	0.23220461607	0.02135	T	0.023092	0.17685	T	-0.692603	0.00040	T	-0.769758	0.02776	T	0.0039490808060735	0.00042	T	0.381362	0.09225	T	0.069005035	0.15082	0.057874605	0.10597	0.069005035	0.15082	0.057874605	0.10596	-1.951	0.03001	T	.	.	0.067	0.02861	B	.;.	.;.	-1.144249	0.00589	0.015	0.5345122100501295	0.04942	0.00570	0.02584	N	AEFBI	0.030139	0.02977	N	-1.85409473304675	0.00426	0.01831619	-1.9462105454224	0.00396	0.0174892	0.999999999832785	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.23	-10.5	0.00234	-2.129000	0.01400	-1.741000	0.04811	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2547:0.46:0.0687:0.2166	4.439	0.10988	735	0.53711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021277	0.010101	0.023098	0.048485	0.000000	0.034483	0.003049	0.018939	0.02632	891.33	47	chr4	76755156	.	A	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.361;DP=795;ExcessHet=0;FS=1.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-1.514;SOR=0.985	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1372	18	0	1	0
chr4	78266922	78266922	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon8:c.T776G:p.L259R,FRAS1:NM_025074:exon8:c.T776G:p.L259R	Fraser syndrome, Autosomal recessive	0	1477	42	3	0	48	0.0159893	.	.	.	196072	Usher_syndrome_type_2C|not_provided|Fraser_syndrome_1|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.508	.	0.0033	0.00359425	0.0086	0.0010	0.0045	0.0004	0.0169	0.0072	0.0152	0.0197	0.0047671	737	154602	rs148509395	0.0041	0.0042	0.0038	0.0045	0.0133	0.0040	0.0040	0.0126	0.0124	0.0005	0.0017	0.0074	0.0001	0.0095	0.0078	0.0034	0.0044	0.0133	0.0037	0.0037	0.0033	0.0041	0.0087	0.0035	0.0034	0.0066	0.0059	0.0006	0	0.0017	0.0069	0	0.0119	0.0170	0.0045	0.0038	0.0087	0.002	0.72154	D	0.02	0.58613	D	.	.	.	.	.	.	0.012317	0.29218	N	0.279554	0.959519	0.26183	N	2.87	0.83286	M	-0.31	0.68030	T	-3.56	0.68880	D	0.324	0.36464	-0.8477	0.52127	T	0.177	0.52131	T	10	0.0076170564	0.00173	T	.	.	.	0.508	0.78848	.	.	0.69033799254	0.68767	0.8754246470614692	0.87509	.	.	0.402483850718	0.25414	T	.	.	.	-0.0193185	0.48951	T	0.210505	0.83692	D	0.0470920803135429	0.04981	T	0.734827	0.35112	T	.	.	.	.	.	.	.	.	-12.312	0.86338	D	.	.	0.087	0.11317	B	.;.	.;.	3.123829	0.42181	21.5	0.99574399264936109	0.72621	0.51684	0.28953	D	AEFBCI	0.285734	0.39829	N	0.0179515778549127	0.42672	2.575503	-0.0664457684772517	0.36786	2.145366	0.744835021696735	0.23269	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.620846	0.47308	0	.	.	5.34	4.08	0.46880	3.766000	0.54991	4.900000	0.45850	0.665000	0.62972	0.272000	0.25065	0.911000	0.28135	0.024000	0.12247	0.1379:0.0:0.0:0.8621	11.149	0.47672	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.005435	0.000000	0.000000	0.034483	0.009146	0.018939	0.02632	1394.33	105	chr4	78266922	.	T	G	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=1079;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.203;SOR=0.718	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr4	78267349	78267349	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon9:c.G898A:p.G300S,FRAS1:NM_025074:exon9:c.G898A:p.G300S	Fraser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0463220368343	.	.	5.085e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs747060409	1.984e-05	1.984e-05	8.169e-06	3.163e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.02538	T	0.864	0.03371	T	.	.	.	.	.	.	0.103607	0.19739	N	0.528290	0.999985	0.18198	N	0.14	0.08730	N	-0.5	0.70480	T	-2.01	0.46337	N	0.231	0.25989	-0.8564	0.51520	T	0.242	0.61012	T	10	0.057405442	0.06588	T	0.046322	0.62405	D	0.091	0.26358	0.455	0.51938	0.438701194649	0.43488	0.5557241053668117	0.55499	.	.	0.249310195446	0.03695	T	.	.	.	-0.280219	0.10644	T	-0.334315	0.40987	T	0.0271664223428844	0.01567	T	0.614838	0.23473	T	.	.	.	.	.	.	.	.	-1.198	0.01248	T	.	.	0.079	0.07224	B	.;.	.;.	0.552704	0.09211	5.995	0.41146183002417147	0.02949	0.12543	0.17333	N	AEFGBCI	0.076381	0.15363	N	-0.780449910730671	0.13820	0.6836388	-0.782826218588303	0.14915	0.7818815	0.511763157111191	0.21024	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.19	2.42	0.28720	0.466000	0.21731	0.709000	0.20918	-0.135000	0.12811	0.088000	0.22533	0.000000	0.08366	0.011000	0.09372	0.2412:0.1525:0.6063:0.0	6.392	0.20792	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1349.33	41	chr4	78267349	.	G	A	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=802;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.281;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1310	18	0	1	0
chr4	78317467	78317467	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon17:c.G1919A:p.R640H,FRAS1:NM_025074:exon17:c.G1919A:p.R640H	Fraser syndrome, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0130682959591	8.1e-05	.	7.464e-05	0	8.667e-05	0	0	9.004e-05	0.0011	6.063e-05	5.82e-05	9	154602	rs373092006	4.242e-05	4.241e-05	4.085e-05	4.401e-05	0.0009	3.377e-05	3.065e-05	0.0003	0.0002	0.0004	6.711e-05	0	0	0	0.0009	2.429e-05	9.939e-05	0.0001	7.88e-05	7.874e-05	2.57e-05	0.0001	0.0002	4.494e-05	3.51e-05	3.762e-05	2.575e-05	9.627e-05	0	6.533e-05	0	0	0	0	8.819e-05	0	0.0002	0.174	0.22486	T	0.158	0.35330	T	.	.	.	.	.	.	0.796378	0.09358	N	0.918385	1	0.08975	N	0.645	0.16088	N	-1.01	0.76168	T	0.43	0.03297	N	0.105	0.08925	-0.9638	0.38448	T	0.208	0.56717	T	10	0.1006639	0.18346	T	0.013068	0.32181	T	0.101	0.28911	.	.	0.276482976112	0.27267	0.17133686971662213	0.17053	.	.	0.211243256927	0.00865	T	.	.	.	-0.271601	0.11579	T	-0.446385	0.28095	T	0.0220186255707071	0.00912	T	0.132987	0.01049	T	.	.	.	.	.	.	.	.	-2.969	0.09851	T	.	.	0.062	0.01290	B	.;.	.;.	-0.234541	0.02918	0.424	0.86107631961027309	0.16318	0.01408	0.04764	N	AEFBI	0.032500	0.03683	N	-1.5651566439413	0.01448	0.06317712	-1.61065986777185	0.01592	0.07218279	0.746044246894329	0.23286	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-4.77	0.02985	-2.121000	0.01409	-3.283000	0.02908	-1.670000	0.00801	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.4935:0.086:0.3337:0.0869	5.570	0.16476	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	931.33	82	chr4	78317467	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.002;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	18	0	1	0
chr4	78407714	78407714	G	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon31:c.G4181C:p.G1394A,FRAS1:NM_025074:exon31:c.G4181C:p.G1394A	Fraser syndrome, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	294251	not_provided|FRAS1-related_disorder|Fraser_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00725144832426	0.0002	0.000399361	0.0004	0	0.0003	0	0	0.0002	0	0.0022	0.0003363	52	154602	rs376487875	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0.0003	0.0004	0	0	0.0014	0.0001	0.0003	0.0021	0.0001	0.0001	7.712e-05	0.0002	0.0017	9.148e-05	7.704e-05	0.0008	0.0006	0	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.956	0.02116	T	0.891	0.03806	T	.	.	.	.	.	.	0.000211	0.47681	D	0.193433	0.915415	0.40924	D	2.3	0.65703	M	0.98	0.42122	T	-2.38	0.52451	N	0.352	0.39356	-1.0778	0.07781	T	0.094	0.35711	T	10	0.016387403	0.00345	T	0.007251	0.19225	T	0.096	0.27654	.	.	0.623756596702	0.62070	0.34370543779316637	0.34284	.	.	0.294737279415	0.09619	T	.	.	.	-0.487109	0.00674	T	-0.477401	0.24724	T	0.0552540534065081	0.06400	T	0.887111	0.61998	D	.	.	.	.	.	.	.	.	-3.451	0.17096	T	.	.	0.122	0.25527	B	.;.	.;.	3.263703	0.44646	22.0	0.97181669393725256	0.32722	0.97129	0.72859	D	AEFBI	0.741485	0.68540	D	0.232006226449712	0.52755	3.447827	0.362243574555309	0.59248	4.101124	0.990138896119744	0.32050	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.67	4.82	0.61641	6.100000	0.71123	5.760000	0.49678	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0763:0.0:0.9237:0.0	13.133	0.58811	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2143.33	33	chr4	78407714	.	G	C	2143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.083;SOR=0.706	GT:AD:DP:GQ:PL	0/1:75,89:164:99:2157,0,1801	18	0	1	0
chr4	78540982	78540982	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.T11897G:p.V3966G	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00565468107924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	0.873496	0.08808	N	0.942260	0.979154	0.25201	N	.	.	.	.	.	.	.	.	.	0.273	0.30914	-1.0515	0.13981	T	0.093	0.35417	T	10	0.09369245	0.16600	T	0.005655	0.14621	T	.	.	.	.	0.243972157842	0.24002	0.13425214868762178	0.13349	.	.	0.287427037954	0.08548	T	.	.	.	-0.0845001	0.38979	T	-0.359155	0.38151	T	0.084638301861494	0.10570	T	0.49705	0.15447	T	.	.	.	.	.	.	.	.	-3.322	0.14022	T	.	.	0.075	0.05447	B	.	.	1.446433	0.18669	13.86	0.97001394613674374	0.31945	0.71835	0.35186	D	AEFBI	0.362897	0.45198	N	-0.573876789621877	0.19742	1.035562	-0.522718643303004	0.21537	1.165547	0.999944856198836	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	3.72	0.41857	1.291000	0.32936	1.550000	0.27287	0.609000	0.47794	0.612000	0.27847	0.970000	0.29701	0.008000	0.08271	0.0:0.1433:0.0:0.8567	9.454	0.37907	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	32.75	44	chr4	78540982	.	T	G	32.75	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.939;DP=840;ExcessHet=0;FS=62.547;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=-1.421;SOR=4.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:97:.:.:0,97,1505:.	17	0	1	1
chr4	78540986	78540986	T	G	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.T11901G:p.N3967K	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00574917947708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	0.162967	0.17605	N	0.611706	0.993636	0.42003	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	-0.8382	0.52766	T	0.222	0.58498	T	10	0.31690806	0.49106	T	0.005749	0.14922	T	.	.	.	.	0.622959606287	0.61989	0.05426473376059712	0.05368	.	.	0.292497456074	0.09287	T	.	.	.	-0.235618	0.15914	T	-0.576225	0.14883	T	0.123430367098105	0.14762	T	0.727127	0.34152	T	.	.	.	.	.	.	.	.	-3.211	0.12615	T	.	.	0.111	0.21653	B	.	.	1.217266	0.16105	12.32	0.96668065888486154	0.30654	0.89376	0.49803	D	AEFBI	0.438181	0.49768	N	-0.300370217947696	0.29133	1.613005	-0.317745971833243	0.27525	1.527982	0.997851313139015	0.36112	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	2.37	0.28337	2.149000	0.41869	1.103000	0.24087	-1.087000	0.01546	0.997000	0.40164	0.709000	0.26280	0.015000	0.10482	0.0:0.6594:0.0:0.3406	9.469	0.37993	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	44.28	45	chr4	78540986	.	T	G	44.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.808;DP=830;ExcessHet=0;FS=74.423;InbreedingCoeff=-0.064;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=-2.074;SOR=4.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	16	0	1	2
chr4	78870983	78870988	CAGCAG	-	exonic	BMP2K	.	nonframeshift deletion	BMP2K:NM_017593:exon11:c.1432_1437del:p.Q485_Q486del,BMP2K:NM_198892:exon11:c.1432_1437del:p.Q485_Q486del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0001	0.0001	0.0002	3.397e-05	0	0.0008	0.0001294	20	154602	rs763960588	6.708e-05	8.28e-05	4.405e-05	9.033e-05	0.0005	5.622e-05	5.208e-05	0.0004	0.0004	6.082e-05	9.038e-05	0	0.0002	2.01e-05	0.0002	2.539e-05	0.0001	0.0005	7.95e-05	7.908e-05	7.76e-05	8.15e-05	0.0003	4.531e-05	3.539e-05	8.938e-05	5.427e-05	7.311e-05	0	0.0003	0	0	0	0	5.914e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3082.78	37	chr4	78870982	.	ACAGCAG	A	3082.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=803;ExcessHet=0.119;FS=1.892;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=1.07;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	18	0	1	0
chr4	78912028	78912028	C	T	exonic	BMP2K	.	stopgain	BMP2K:NM_198892:exon16:c.C3481T:p.Q1161X	.	428	1064	29	0	1	30	0.0134446	.	.	.	215303	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.572	.	0.0024	0.000599042	0.0031	0.0006	0.0036	0	0.0002	0.0041	0.0048	0.0027	0.0027296	422	154602	rs138262352	0.0022	0.0022	0.0021	0.0024	0.0336	0.0022	0.0021	0.0297	0.0282	0.0008	0.0030	0.0255	0	0.0002	0.0336	0.0016	0.0044	0.0021	0.0021	0.0021	0.0022	0.0019	0.0022	0.0019	0.0018	0.0020	0.0018	0.0005	0	0.0014	0.0254	0	0.0003	0.0442	0.0022	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.739903	0.06422	N	1.150280	0.894372	0.81001	D	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238782	0.77546	D	0.566539	0.96104	D	0.0855147993546638	0.10677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.353860	0.98814	40	0.99572507971229229	0.72501	0.98535	0.83821	D	AEFBCI	0.210611	0.33648	N	1.01349220129095	0.96145	14.35152	0.820984657983906	0.91211	10.77427	0.999999990763139	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	7.195000	0.77321	7.711000	0.66806	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	19.420	0.94711	553	0.71930	BMP-2-inducible protein kinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1669.33	33	chr4	78912028	.	C	T	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.74;DP=781;ExcessHet=0;FS=4.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.579;SOR=1.089	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr4	80274953	80274953	C	T	exonic	FGF5	.	stopgain	FGF5:NM_004464:exon2:c.C400T:p.R134X	Trichomegaly, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.305e-05	9.699e-05	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs201539600	5.045e-05	5.131e-05	4.403e-05	5.693e-05	0.0009	4.101e-05	3.772e-05	0.0003	0.0002	0	0.0001	0	5.123e-05	0	0.0009	4.445e-05	3.344e-05	0.0001	4.607e-05	5.909e-05	5.149e-05	4.039e-05	0.0002	2.112e-05	1.529e-05	1.918e-05	1.032e-05	7.235e-05	0	6.554e-05	0.0003	0.0002	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.058700	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.932	0.93723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460244	0.92936	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.987951	0.99488	44	0.99769439094524903	0.85750	0.92356	0.55522	D	AEFDBI	0.115712	0.22740	N	0.911684965634348	0.92320	11.35653	0.79994817156133	0.89790	10.12222	0.999999999381138	0.74766	0.648238	0.45900	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	5.483000	0.66561	4.880000	0.45656	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.715	0.96105	791	0.46100	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3197.33	34	chr4	80274953	.	C	T	3197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.62;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr4	82451233	82451233	G	A	exonic	ENOPH1	.	nonsynonymous SNV	ENOPH1:NM_001292017:exon3:c.G113A:p.R38H,ENOPH1:NM_021204:exon3:c.G377A:p.R126H	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0041091910717	0.0007	0.000798722	0.0004	0.0003	0.0006	0	0	0.0005	0	0.0003	0.0003946	61	154602	rs148501831	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	5.974e-05	0.0006	0	0	0	0.0007	0.0006	0.0006	0.0003	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0006	0	0	0	0.0034	0.0008	0.0005	0.0002	0.113	0.31682	T	0.114	0.38891	T	0.001	0.07471	B	0.0	0.01387	B	0.956542	0.07690	N	1.017770	1	0.08975	N	0.6	0.15550	N	3.44	0.05375	T	-1.41	0.34795	N	0.113	0.12770	-0.9466	0.41549	T	0.013	0.04843	T	10	0.010164559	0.00227	T	0.004109	0.09838	T	0.030	0.07022	.	.	0.245101548738	0.24120	0.3841751892615236	0.38332	0.862312818367	0.69017	0.201750591397	0.00509	T	0.057014	0.30448	T	-0.635304	0.00089	T	-0.776896	0.02548	T	0.00606011518313115	0.00067	T	0.246475	0.06100	T	0.033820484	0.03677	0.03427467	0.02464	0.033820484	0.03677	0.03427467	0.02464	-6.501	0.50294	T	.	.	0.083	0.09868	B	.;.;.	.;.;.	0.191459	0.05775	2.218	0.86277605973799754	0.16429	0.08247	0.14201	N	AEFDBHCIJ	0.092026	0.18634	N	-1.35098013078062	0.03115	0.1386168	-1.46652801077651	0.02624	0.1210018	0.999999999825596	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	-8.38	0.00851	-1.621000	0.02147	-1.283000	0.05821	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.643000	0.32503	0.4859:0.0719:0.2241:0.218	3.635	0.07686	916	0.20744	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	861.33	42	chr4	82451233	.	G	A	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.731;DP=693;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.174;SOR=1.032	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	188.65	59	chr4	82485718	.	G	C	188.65	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-1.174;DP=787;ExcessHet=0.3672;FS=78.247;InbreedingCoeff=-0.1404;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.15;SOR=8.172	GT:AD:DP:GQ:PL	0/0:22,0:22:45:0,45,556	13	0	3	3
chr4	82874640	82874640	T	C	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001191049:exon5:c.A595G:p.I199V,SEC31A:NM_001077206:exon6:c.A610G:p.I204V,SEC31A:NM_001077207:exon6:c.A610G:p.I204V,SEC31A:NM_001077208:exon6:c.A610G:p.I204V,SEC31A:NM_001300744:exon6:c.A610G:p.I204V,SEC31A:NM_001300745:exon6:c.A610G:p.I204V,SEC31A:NM_001318119:exon6:c.A610G:p.I204V,SEC31A:NM_016211:exon6:c.A610G:p.I204V,SEC31A:NM_001318120:exon8:c.A610G:p.I204V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0102378201004	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.058e-05	2.59e-05	4	154602	rs757673983	3.155e-05	3.147e-05	2.32e-05	3.998e-05	0.0003	2.418e-05	2.163e-05	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	3.239e-05	4.977e-05	5.866e-05	6.569e-05	6.566e-05	0.0001	2.689e-05	0.0001	3.516e-05	2.615e-05	6.804e-05	5.087e-05	0	0	6.542e-05	0	0	0	0	0.0001	0	0	0.054	0.40573	T	0.084	0.43721	T	0.072	0.66517	B	0.147	0.73820	B	0.000003	0.62929	D	0.100958	1	0.81001	D	1.03	0.25572	L	1.63	0.62318	T	-0.92	0.24898	N	0.208	0.24634	-0.6747	0.61616	T	0.302	0.67316	T	10	0.2320399	0.40191	T	0.010238	0.26544	T	0.119	0.33137	.	.	0.590672040873	0.58743	0.12602120138890247	0.12528	0.129952961644	0.14657	0.578057289124	0.49811	T	0.057958	0.30711	T	-0.102587	0.35996	T	-0.254685	0.49352	T	0.199259549379349	0.20375	T	0.920308	0.72722	D	0.13182238	0.30713	0.08177547	0.18610	0.13182238	0.30713	0.08177547	0.18610	-9.955	0.73750	D	.	.	0.123	0.53694	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.247872	0.44367	21.9	0.9989516175890446	0.96819	0.96408	0.68991	D	AEFBI	0.653749	0.62667	D	0.282435717408477	0.55258	3.689978	0.341070732142696	0.57971	3.965183	0.999999999934365	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.05	5.05	0.67566	4.078000	0.57327	4.038000	0.41399	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.955	0.70751	916	0.20744	.;.;WD40-repeat-containing domain;.;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	995.33	33	chr4	82874640	.	T	C	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=720;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.161;SOR=0.512	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1178	18	0	1	0
chr4	82906613	82906613	G	A	exonic	THAP9	.	nonsynonymous SNV	THAP9:NM_024672:exon3:c.G566A:p.R189Q,THAP9:NM_001317776:exon4:c.G134A:p.R45Q	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00276774492125	0.0014	0.00119808	0.0020	0.0003	0.0005	0	0	0.0016	0	0.0078	0.0017982	278	154602	rs139068755	0.0019	0.0019	0.0017	0.0022	0.0069	0.0019	0.0019	0.0064	0.0063	0.0003	0.0006	0.0035	2.536e-05	0.0002	0.0048	0.0018	0.0013	0.0069	0.0009	0.0009	0.0009	0.0009	0.0044	0.0008	0.0007	0.0029	0.0024	0.0002	0	0.0005	0.0026	0	0	0.0034	0.0013	0.0009	0.0044	0.077	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.163303	0.17595	N	0.417709	0.957986	0.26241	N	0.57	0.15267	N	1.31	0.35405	T	-0.18	0.09796	N	0.138	0.13626	-1.0520	0.13845	T	0.112	0.40145	T	10	0.008771062	0.00199	T	0.002768	0.05752	T	0.145	0.38592	.	.	0.292787519742	0.28880	0.09280809653098553	0.09212	0.405451254551	0.41444	0.588347911835	0.51260	T	3.98E-4	0.00124	T	-0.411468	0.01944	T	-0.359817	0.38073	T	0.0251515415286468	0.01293	T	0.80372	0.45098	T	0.08750037	0.20377	0.087367915	0.20305	0.08750037	0.20377	0.087367915	0.20304	-3.588	0.17684	T	.	.	0.119	0.24464	B	.	.	2.715334	0.35499	19.92	0.99849987109519245	0.92925	0.70264	0.34519	D	AEFDGBHCI	0.173729	0.30083	N	0.330027533981842	0.57696	3.937941	0.331114383280492	0.57376	3.903135	0.999999997678546	0.74766	0.685219	0.55550	0	0.468431	0.06638	2	0.608884	0.39905	0	0.567892	0.33627	0	.	.	3.87	3.87	0.43823	2.879000	0.48220	4.601000	0.43997	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.637	0.50468	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.017241	0.006098	0.003788	0.02632	752.33	35	chr4	82906613	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=645;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.605;SOR=1.314	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	18	0	1	0
chr4	83075316	83075316	G	A	exonic	COPS4	.	nonsynonymous SNV	COPS4:NM_001258006:exon9:c.G1022A:p.R341H,COPS4:NM_001330727:exon11:c.G1255A:p.V419M	.	434	1048	38	2	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0043	0.00439297	0.0075	0.0004	0.0018	0.0001	0.0426	0.0073	0.0155	0.0057	0.0066817	1033	154602	rs113267477	0.0060	0.0060	0.0059	0.0061	0.0134	0.0059	0.0059	0.0110	0.0101	0.0006	0.0031	0.0055	2.519e-05	0.0444	0.0134	0.0046	0.0070	0.0060	0.0072	0.0072	0.0055	0.0090	0.0060	0.0068	0.0067	0.0055	0.0054	0.0008	0	0.0041	0.0075	0.0002	0.0489	0.0102	0.0060	0.0066	0.0056	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.04	0.07590	N	0.076	0.05037	-0.9992	0.30143	T	0.030	0.12717	T	8	0.0015691519	0.00018	T	.	.	.	0.085	0.24743	.	.	0.393344232652	0.38951	0.10256565939720381	0.10186	.	.	.	.	.	0.005179	0.04625	T	-0.471995	0.00826	T	-0.445497	0.28196	T	0.0175240950068187	0.00487	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29505	B	.	.	0.207516	0.05916	2.355	0.79335036593062369	0.12695	0.04945	0.10706	N	AEFDBCI	0.015437	0.00294	N	-1.34601090124121	0.03166	0.141003	-1.44118826177199	0.02851	0.1319113	0.999999999999624	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	6.08	-12.2	0.00004	-2.725000	0.00879	-3.752000	0.02561	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2703:0.2492:0.285:0.1956	1.039	0.01458	926	0.17793	.	.	.	.	.	rs113267477	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.000000	0.009511	0.011696	0.100000	0.008621	0.021341	0.018939	0.02632	1021.33	34	chr4	83075316	.	G	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=704;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.61;SOR=0.52	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1313	18	0	1	0
chr4	83284595	83284595	C	G	exonic	COQ2	.	nonsynonymous SNV	COQ2:NM_001358921:exon1:c.G170C:p.S57T,COQ2:NM_015697:exon1:c.G320C:p.S107T	Coenzyme Q10 deficiency, primary, 1, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	.	549913	COQ2-related_disorder|not_specified|Coenzyme_Q10_deficiency,_primary,_1|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.843565336733	.	0.000199681	0.0012	0	0	0	0	0.0031	0.0072	0.0001	0.0005304	82	154602	rs550949678	0.0010	0.0010	0.0010	0.0010	0.0063	0.0009	0.0009	0.0046	0.0041	0.0009	0.0022	0.0050	0	0.0001	0.0063	0.0009	0.0023	8.91e-05	0.0010	0.0010	0.0010	0.0010	0.0028	0.0009	0.0008	0.0021	0.0019	0.0003	0	0.0028	0.0060	0	0	0	0.0010	0.0033	0.0002	0.139	0.27904	T	0.28	0.22828	T	0.671	0.41189	P	0.107	0.31211	B	0.000053	0.53742	D	0.180545	0.999002	0.45857	D	.	.	.	-1.12	0.77593	T	-0.94	0.25118	N	0.5	0.72835	-0.5780	0.65696	T	0.293	0.66508	T	10	0.0127670765	0.00273	T	0.843565	0.98791	D	0.261	0.57352	.	.	0.843218408993	0.84172	0.45118818275583905	0.45036	0.314366465134	0.33721	0.823191761971	0.85517	D	0.082652	0.36877	T	-0.423935	0.01615	T	-0.379256	0.35809	T	0.108678089042021	0.13286	T	0.621038	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15788	B	.;.;.	.;.;.	2.024864	0.25732	16.87	0.87410022446757152	0.17207	0.63814	0.32207	D	ALL	0.342438	0.43859	N	-0.163996714250332	0.34642	1.979735	-0.219296149736526	0.30844	1.740237	1.0	0.98316	0.441713	0.08003	0	0.093493	0.02558	3	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.59	3.59	0.40253	4.045000	0.57081	2.339000	0.32242	0.547000	0.25779	1.000000	0.71638	0.994000	0.32194	0.008000	0.08271	0.0:1.0:0.0:0.0	11.000	0.46812	606	0.67383	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011470	0.000000	0.020891	0.006024	0.000000	0.018182	0.003247	0.000000	0.02632	1024.33	50	chr4	83284595	.	C	G	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.579;DP=854;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-1.163;SOR=0.678	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr4	83284842	83284842	A	C	exonic	COQ2	.	nonsynonymous SNV	COQ2:NM_015697:exon1:c.T73G:p.L25V	Coenzyme Q10 deficiency, primary, 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	140682	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00299521	0.0023	0	0	0.0490	0	0	0	0.0001	0.0008603	133	154602	rs150145464	0.0004	0.0005	0.0004	0.0005	0.0153	0.0004	0.0004	0.0143	0.0139	0	0	0	0.0153	0	0	1.009e-05	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0168	0.0005	0.0005	0.0139	0.0129	0	0	0	0	0.0168	0	0	1.471e-05	0	0.0006	0.538	0.06847	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	-1.13	0.77719	T	0.03	0.06612	N	0.163	0.17140	-0.9778	0.35503	T	0.112	0.40099	T	5	0.00371176	0.00069	T	.	.	.	0.087	0.25287	.	.	0.301122078929	0.29733	0.06348138416413113	0.06287	0.156283666226	0.17638	0.451879024506	0.32200	T	.	.	.	-0.460058	0.00983	T	-0.418023	0.31303	T	0.0137196625417535	0.00257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03515	B	.	.	0.058350	0.04700	1.339	0.68294930767191553	0.08614	0.00584	0.02629	N	ALL	0.029555	0.02811	N	-1.16430417797728	0.05548	0.2532303	-1.41725380914691	0.03079	0.1429466	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.003489	0.00041	3	.	.	1.38	-2.76	0.05547	-1.065000	0.03569	-1.615000	0.05056	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.361:0.1924:0.227:0.2197	0.186	0.00120	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	795.33	43	chr4	83284842	.	A	C	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=785;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.07;SOR=0.916	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1278	18	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	90.12	65	chr4	83463512	.	C	T	90.12	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.418;DP=847;ExcessHet=0.3672;FS=158.539;InbreedingCoeff=-0.1287;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.423;SOR=7.978	GT:AD:DP:GQ:PL	0/0:50,0:50:36:0,36,1107	13	0	3	3
chr4	84497814	84497814	-	GGCAGAGGCGGAGGA	exonic	NKX6-1	.	nonframeshift insertion	NKX6-1:NM_006168:exon1:c.414_415insTCCTCCGCCTCTGCC:p.A138_A139insSSASA	.	303	1209	10	0	0	10	0.00411862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	0.0001537	4	26028	rs778404331	0.0023	0.0020	0.0023	0.0023	0.0052	0.0023	0.0022	0.0033	0.0027	0.0005	0.0021	0.0004	0.0002	0.0003	0.0052	0.0026	0.0022	0.0009	0.0019	0.0019	0.0018	0.0021	0.0033	0.0018	0.0017	0.0027	0.0025	0.0005	0.0011	0.0033	0	0.0002	0.0002	0.0068	0.0030	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	109.3	16	chr4	84497814	.	C	CGGCAGAGGCGGAGGA	109.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=416;ExcessHet=0;FS=2.754;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-1.201;SOR=2.133	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	18	0	1	0
chr4	84794627	84794627	G	A	exonic	WDFY3	.	nonsynonymous SNV	WDFY3:NM_014991:exon21:c.C3379T:p.R1127C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0490390820226	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs770544282	1.231e-05	1.231e-05	1.633e-05	8.251e-06	2.987e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	0.3	0.58755	T	-7.01	0.93764	D	0.888	0.88687	-0.3467	0.73649	T	0.368	0.72773	T	10	0.8781092	0.87111	D	0.049039	0.63636	D	0.384	0.70112	0.631	0.76699	0.317526407968	0.31361	0.7698951030008654	0.76938	1.45497841777	0.86231	0.669026196003	0.62699	T	0.583861	0.86415	D	0.265431	0.80028	D	0.207143	0.83516	D	0.990239858627319	0.80451	D	0.981202	0.93547	D	0.7299209	0.79719	0.45159498	0.68094	0.7299209	0.79720	0.45159498	0.68094	-12.613	0.87708	D	0.8795832900416963	0.93776	0.698	0.72873	P	.	.	5.265848	0.88415	29.6	0.99939677000685501	0.99734	0.96967	0.71926	D	AEFBI	0.785761	0.71605	D	0.660870337124776	0.77075	6.605206	0.588699524476991	0.74128	6.084659	0.998104227974561	0.36433	0.706548	0.73137	0	0.588015	0.36545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	5.983000	0.70222	7.454000	0.58989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0:0.7124:0.2876	12.698	0.56384	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	34	chr4	84794627	.	G	A	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.57;DP=742;ExcessHet=0;FS=61.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.729;SOR=6.183	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1471	18	0	1	0
chr4	85972140	85972140	C	T	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon3:c.C125T:p.A42V,ARHGAP24:NM_031305:exon3:c.C425T:p.A142V,ARHGAP24:NM_001042669:exon4:c.C419T:p.A140V,ARHGAP24:NM_001287805:exon4:c.C449T:p.A150V,ARHGAP24:NM_001025616:exon6:c.C704T:p.A235V	.	411	1109	1	1	0	3	0.00135074	.	.	.	3282742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0203155919161	.	.	7.43e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs760970265	4.242e-05	4.241e-05	2.859e-05	5.638e-05	0.0006	3.377e-05	3.065e-05	0.0005	0.0004	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.497e-06	6.623e-05	0.0006	5.933e-05	5.916e-05	7.726e-05	4.052e-05	0.0005	3.086e-05	2.217e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0.0005	0	0.002	0.78490	D	0.008	0.72224	D	0.907	0.59675	P	0.665	0.61001	P	0.000060	0.53742	D	0.169713	1	0.81001	D	1.315	0.32790	L	0.95	0.43279	T	-3.2	0.66206	D	0.697	0.70175	-0.8404	0.52620	T	0.203	0.56073	T	10	0.35636705	0.52377	T	0.020316	0.42890	T	0.190	0.46781	0.57	0.69299	0.660676212287	0.65783	0.35592191526004957	0.35506	0.381722051695	0.39521	0.743844091892	0.73539	T	0.164641	0.51018	T	-0.165473	0.25922	T	-0.126035	0.61303	T	0.392708957195282	0.28667	T	0.988564	0.96090	D	0.436703	0.63189	0.4725988	0.69426	0.436703	0.63189	0.4725988	0.69427	-12.443	0.86942	D	.	.	0.548	0.67564	A	.;.;.;.;.;.	.;.;.;.;.;.	4.256745	0.64661	24.7	0.99797405919036553	0.88283	0.98589	0.84429	D	AEFBI	0.908430	0.86373	D	0.608431182495738	0.73706	6.010331	0.643035414532747	0.78095	6.807407	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.772000	0.84213	4.748000	0.44643	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.351	0.94373	445	0.79730	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	33	chr4	85972140	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.691;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.026;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1274	18	0	1	0
chr4	85994761	85994761	C	G	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon6:c.C528G:p.S176R,ARHGAP24:NM_031305:exon6:c.C828G:p.S276R,ARHGAP24:NM_001042669:exon7:c.C822G:p.S274R,ARHGAP24:NM_001287805:exon7:c.C852G:p.S284R,ARHGAP24:NM_001025616:exon9:c.C1107G:p.S369R	.	419	1097	5	1	0	7	0.00318037	.	.	.	1961185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00831723055267	.	.	6.59e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs762866205	4.515e-05	4.515e-05	2.45e-05	6.6e-05	0.0006	3.641e-05	3.321e-05	0.0004	0.0004	0	0	0	0	0	0	9.892e-06	9.935e-05	0.0006	1.315e-05	1.314e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.071	0.46910	T	0.509	0.10857	T	0.112	0.26290	B	0.025	0.20508	B	0.002001	0.37503	N	0.298358	0.999999	0.08975	N	0.69	0.16971	N	0.87	0.46412	T	-0.64	0.18670	N	0.194	0.23506	-1.0674	0.09994	T	0.062	0.25672	T	10	0.03836143	0.02250	T	0.008317	0.22029	T	0.041	0.10877	0.209	0.12639	0.534668972696	0.53115	0.3380545901983891	0.33718	0.205660221654	0.22987	0.331638723612	0.15182	T	0.014186	0.12124	T	-0.4443	0.01220	T	-0.515189	0.20783	T	0.0259775780141354	0.01402	T	0.871813	0.57812	D	0.0652629	0.13930	0.060072295	0.11381	0.0652629	0.13930	0.060072295	0.11381	-5.548	0.43533	T	.	.	0.225	0.46893	B	.;.;.;.	.;.;.;.	1.711957	0.21796	15.35	0.97509579566325721	0.34341	0.22258	0.21686	N	AEFDBHCIJ	0.094096	0.19031	N	-0.535130256826258	0.20952	1.108365	-0.484708738224794	0.22574	1.226789	0.999991626259926	0.74766	0.675202	0.55065	0	0.588015	0.36545	0	0.573888	0.23631	0	0.756233	0.99697	0	.	.	4.99	-0.832	0.10240	0.027000	0.13512	0.404000	0.18035	0.549000	0.26987	0.545000	0.27306	0.996000	0.32793	0.985000	0.61073	0.1849:0.3989:0.1056:0.3106	1.523	0.02367	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2049.33	33	chr4	85994761	.	C	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.156;DP=1599;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.01;SOR=0.713	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	18	0	1	0
chr4	86693648	86693648	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon6:c.G608A:p.R203Q,PTPN13:NM_080683:exon6:c.G608A:p.R203Q,PTPN13:NM_080684:exon6:c.G608A:p.R203Q,PTPN13:NM_080685:exon6:c.G608A:p.R203Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	2683608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.120391421668	.	.	7.954e-05	0	0	0	0	8.873e-05	0	0.0001	5.17e-05	8	154602	rs567152948	7.703e-05	8.756e-05	6.904e-05	8.522e-05	0.0002	6.514e-05	6.054e-05	9.667e-05	7.654e-05	0	2.714e-05	0	0	0	0.0002	8.161e-05	8.627e-05	0.0002	5.26e-05	5.254e-05	5.142e-05	5.384e-05	0.0002	2.559e-05	1.831e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.003	0.72154	D	0.007	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.002000	0.37503	N	0.000000	0.999993	0.58761	D	2.885	0.83555	M	1.35	0.34648	T	-2.9	0.60827	D	0.609	0.66700	-0.6331	0.63439	T	0.243	0.61166	T	10	0.5519866	0.64307	D	0.120391	0.80092	D	0.354	0.67510	0.438	0.49157	0.527908583987	0.52438	0.5641292700225263	0.56339	0.272485104061	0.29758	0.58894944191	0.51346	T	0.62221	0.88174	D	0.00210623	0.51945	T	-0.234751	0.51309	T	0.853504657745361	0.50471	D	0.988801	0.96179	D	0.31853807	0.54515	0.32706577	0.58608	0.31853807	0.54515	0.32706577	0.58607	-4.237	0.28079	T	.	.	0.577	0.67932	P	.;.;.;.;.	.;.;.;.;.	4.983147	0.82561	27.8	0.99960478404196518	0.99997	0.98782	0.86783	D	AEFBI	0.874557	0.79750	D	0.857141594639473	0.89510	10.00189	0.839668652592876	0.92398	11.40369	0.999998005779922	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.222000	0.89729	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.507	0.95116	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1956.83	34	chr4	86693648	.	G	A	1956.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.89;DP=775;ExcessHet=0.119;FS=3.468;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.508;SOR=0.469	GT:AD:DP:GQ:PL	0/1:48,37:85:99:865,0,1047	17	0	2	0
chr4	86848793	86848793	C	G	exonic	SLC10A6	.	nonsynonymous SNV	SLC10A6:NM_197965:exon1:c.G323C:p.G108A	.	426	1092	4	0	0	4	0.00182815	.	.	.	2330521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0267913666406	.	.	0.0001	0	0	0	0	6.081e-05	0.0011	0.0006	8.41e-05	13	154602	rs755930779	6.025e-05	6.02e-05	4.359e-05	7.708e-05	0.0021	4.966e-05	4.631e-05	0.0012	0.0009	0.0001	2.244e-05	0	0	0	0.0021	2.429e-05	8.287e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	0.99999	0.58761	D	3.24	0.89678	M	2.48	0.14657	T	-5.61	0.86686	D	0.96	0.96984	-0.9422	0.42266	T	0.131	0.44208	T	10	0.9477718	0.94105	D	0.026791	0.49666	D	0.611	0.84773	0.857	0.95604	0.313818047136	0.31001	0.7592891617855005	0.75876	0.364717818005	0.38087	0.575932383537	0.49513	T	0.124277	0.44920	T	0.00395229	0.52197	T	0.10416	0.77184	D	0.6680788397789	0.39252	D	0.956404	0.83469	D	0.86134166	0.88188	0.7874522	0.87488	0.86134166	0.88190	0.7874522	0.87488	-10.624	0.77556	D	.	.	0.308	0.53603	B	.	.	4.363785	0.67123	25.1	0.99830902358184537	0.91284	0.95569	0.65245	D	AEFGBCI	0.929910	0.91640	D	0.871460293630216	0.90294	10.33874	0.810768543553655	0.90534	10.45041	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	7.798000	0.84489	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:1.0:0.0:0.0	17.408	0.87370	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1263.33	33	chr4	86848793	.	C	G	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.379;DP=787;ExcessHet=0;FS=4.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.586;SOR=1.188	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1228	18	0	1	0
chr4	86848964	86848964	C	T	exonic	SLC10A6	.	nonsynonymous SNV	SLC10A6:NM_197965:exon1:c.G152A:p.C51Y	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.710	0.0637690959571	7.7e-05	0.000399361	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs376640232	5.815e-05	5.814e-05	5.309e-05	6.325e-05	0.0010	4.809e-05	4.431e-05	0.0005	0.0003	0	6.708e-05	0	0	0	0.0010	5.845e-05	0.0001	4.637e-05	7.878e-05	7.873e-05	7.709e-05	8.055e-05	0.0002	4.493e-05	3.509e-05	9.049e-05	7.013e-05	2.405e-05	0	0	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.63	0.94006	H	2.65	0.12676	T	-10.25	0.98941	D	0.981	0.99100	-0.7469	0.58097	T	0.155	0.48602	T	10	0.95051485	0.94386	D	0.063769	0.69072	D	0.710	0.89650	.	.	0.302793454619	0.29890	0.6448068754258176	0.64415	0.443530537065	0.44276	0.61371922493	0.54842	T	0.193604	0.54912	T	0.0549123	0.58973	T	0.110401	0.77599	D	0.997667968273163	0.92113	D	0.918208	0.70605	D	0.9711168	0.98363	0.915942	0.96111	0.9711168	0.98363	0.915942	0.96112	-14.456	0.94444	D	.	.	0.874	0.81105	P	.	.	4.899405	0.80508	27.3	0.98757568867127732	0.45755	0.98516	0.83613	D	AEFGBCI	0.954603	0.97183	D	0.863434353077414	0.89858	10.14833	0.765193220306529	0.87288	9.170495	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.85	5.85	0.93663	7.798000	0.84489	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	17.667	0.88109	708	0.56926	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2066.33	33	chr4	86848964	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.08;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.976;SOR=0.669	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1228	18	0	1	0
chr4	87114434	87114434	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C494T:p.A165V,AFF1:NM_001313959:exon11:c.C1580T:p.A527V,AFF1:NM_005935:exon11:c.C1580T:p.A527V,AFF1:NM_001166693:exon12:c.C1601T:p.A534V	.	11	1499	11	1	0	13	0.0043175	.	.	.	734754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0200897194494	0.0006	0.00219649	0.0013	0.0030	0.0004	0.0003	0	0.0009	0	0.0034	0.001009	156	154602	rs201993229	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0028	0.0027	0.0018	0.0002	0.0032	0.0002	0	0.0016	0.0005	0.0008	0.0031	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0017	0.0015	0.0020	0	0.0003	0.0043	0.0002	0	0	0.0007	0.0005	0.0023	1.0	0.24372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.978139	0.07822	N	1.010520	1	0.08975	N	-0.59	0.02258	N	0.03	0.64086	T	0.03	0.42575	N	0.067	0.10483	-1.0012	0.29574	T	0.069	0.28147	T	10	0.0035907328	0.00065	T	0.02009	0.42610	T	0.027	0.05988	.	.	0.243398259712	0.23965	0.06372221201482546	0.06311	0.049690005848	0.05445	0.319151550531	0.13293	T	0.078648	0.35941	T	-0.606319	0.00133	T	-0.645502	0.09272	T	0.002194123681064	0.00023	T	0.40306	0.11673	T	0.017148348	0.00250	0.03160284	0.01773	0.017148348	0.00249	0.03160284	0.01772	-4.74	0.34369	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-1.090542	0.00652	0.018	0.52902382881995713	0.04836	0.06513	0.12523	N	AEFDBHCI	0.030058	0.02955	N	-1.82267421312906	0.00492	0.02117562	-1.84736744974942	0.00619	0.0275136	0.99999977705542	0.74766	0.624846	0.39970	0	0.653731	0.59785	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.89	-8.4	0.00843	-0.417000	0.07153	-4.616000	0.02068	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0922:0.3703:0.0:0.5375	8.726	0.33630	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1034.33	33	chr4	87114434	.	C	T	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=708;ExcessHet=0;FS=0.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.712;SOR=0.719	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1223	18	0	1	0
chr4	87131833	87131833	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon15:c.C2035T:p.P679S,AFF1:NM_001313959:exon17:c.C3121T:p.P1041S,AFF1:NM_005935:exon17:c.C3121T:p.P1041S,AFF1:NM_001166693:exon18:c.C3142T:p.P1048S	.	17	1500	4	1	0	6	0.00199601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0193035631981	7.7e-05	0.000798722	0.0009	9.97e-05	0.0003	0	0	0.0006	0	0.0039	0.0006986	108	154602	rs144598701	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0004	0.0026	0.0025	9.421e-05	0.0002	0.0032	0	0	0.0016	0.0003	0.0006	0.0030	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0002	0.0043	0	0	0	0.0003	0	0.0021	0.352	0.12226	T	0.699	0.05825	T	0.006	0.13644	B	0.018	0.18489	B	0.192508	0.16809	N	0.595565	0.820572	0.34770	D	0.835	0.21042	L	0.05	0.61923	T	-1.11	0.28906	N	0.092	0.09631	-0.9952	0.31245	T	0.119	0.41735	T	10	0.005586982	0.00124	T	0.019304	0.41626	T	0.031	0.07369	.	.	0.41921206133	0.41539	0.09670454187720627	0.09602	0.0501717393775	0.05505	0.377047836781	0.21837	T	0.103695	0.41259	T	-0.52469	0.00413	T	-0.528247	0.19463	T	0.0058071732486809	0.00063	T	0.759024	0.38317	T	0.01781661	0.00305	0.027865482	0.00973	0.01781661	0.00305	0.027865482	0.00973	-4.943	0.36325	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	0.477986	0.08477	5.234	0.67065876134187585	0.08243	0.42523	0.26896	N	AEFDBI	0.033835	0.04085	N	-0.864244922444833	0.11701	0.5661341	-0.763781323556238	0.15385	0.8088325	0.817548039090179	0.24465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.68	2.8	0.31881	0.382000	0.20364	0.246000	0.16368	-0.313000	0.06017	0.099000	0.22773	0.025000	0.21018	0.131000	0.19607	0.1496:0.6006:0.0:0.2498	5.597	0.16613	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	956.33	33	chr4	87131833	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.847;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	0	1	0
chr4	87164028	87164028	C	T	exonic	KLHL8	.	nonsynonymous SNV	KLHL8:NM_001292007:exon8:c.G1040A:p.R347Q,KLHL8:NM_001292003:exon9:c.G1589A:p.R530Q,KLHL8:NM_001292006:exon9:c.G1361A:p.R454Q,KLHL8:NM_020803:exon9:c.G1589A:p.R530Q	.	429	1092	0	1	0	2	0.000914913	.	.	.	2430701	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0772769498616	.	.	0.0003	0	8.637e-05	0	0.0006	0.0002	0.0011	0.0013	0.000304	47	154602	rs201502223	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	8.961e-05	4.472e-05	0	2.519e-05	0.0003	0.0005	9.892e-05	0.0001	0.0016	9.855e-05	9.845e-05	6.428e-05	0.0001	0.0004	6.006e-05	4.879e-05	7.304e-05	3.034e-05	7.225e-05	0	0	0	0	0.0007	0	4.412e-05	0	0.0004	0.232	0.21224	T	0.603	0.09175	T	0.863	0.47474	P	0.095	0.32014	B	0.000028	0.55875	D	0.119501	0.999995	0.58761	D	1.285	0.32305	L	-1.2	0.78537	T	-0.67	0.19297	N	0.497	0.53006	-0.5539	0.66638	T	0.294	0.66545	T	10	0.072585136	0.10855	T	0.077277	0.72733	D	0.352	0.67326	.	.	0.793350107706	0.79143	0.40253223985076825	0.40169	0.515052659661	0.49424	0.611527562141	0.54532	T	0.209335	0.56952	T	-0.332324	0.05938	T	-0.274764	0.47338	T	0.0187876783311367	0.00590	T	0.952605	0.87759	D	0.14147194	0.32596	0.09270711	0.21862	0.14147194	0.32596	0.09270711	0.21861	-3.305	0.13802	T	.	.	0.081	0.11414	B	.;.;.;.	.;.;.;.	3.808670	0.54920	23.5	0.99812371128901289	0.89620	0.94658	0.61888	D	AEFBI	0.591299	0.58745	D	0.115316648482886	0.47176	2.94711	0.18456188463744	0.49000	3.108714	0.999790708581095	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.71	4.87	0.62877	4.792000	0.62161	4.866000	0.45518	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.9297:0.0:0.0702	14.613	0.68129	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1498.33	44	chr4	87164028	.	C	T	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=774;ExcessHet=0;FS=7.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.863;SOR=0.271	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr4	87391031	87391031	G	C	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon1:c.C40G:p.L14V	.	.	.	.	.	.	.	.	.	.	.	3972072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0575445918238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.541	0.11004	T	.	.	.	.	.	.	0.001551	0.38671	N	0.118405	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.23	0.10656	N	0.302	0.45426	-0.6303	0.63558	T	0.347	0.71194	T	10	0.14816457	0.28063	T	0.057545	0.67003	D	0.284	0.60219	0.46	0.52753	0.629359936291	0.62633	0.32608351256564205	0.32521	0.988129650574	0.73979	0.299627125263	0.10345	T	.	.	.	-0.0208096	0.48738	T	-0.267668	0.48054	T	0.285143670621333	0.24387	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.;.	.;.	1.933040	0.24553	16.44	0.59807352564377148	0.06311	0.82609	0.41813	D	AEFDGBCIJ	0.270598	0.38663	N	-0.281281118777013	0.29871	1.660422	-0.242358349179818	0.30036	1.68772	0.999999999896917	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	5.98	0.97147	1.032000	0.29786	2.944000	0.35680	0.676000	0.76740	0.022000	0.19841	0.999000	0.35428	0.184000	0.21420	0.0:0.1355:0.7243:0.1403	11.381	0.49000	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	34	chr4	87391031	.	G	C	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.271;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr4	87493913	87493913	T	C	exonic	SPARCL1	.	nonsynonymous SNV	SPARCL1:NM_001291977:exon2:c.A512G:p.Q171R,SPARCL1:NM_004684:exon4:c.A887G:p.Q296R,SPARCL1:NM_001128310:exon5:c.A887G:p.Q296R,SPARCL1:NM_001291976:exon5:c.A512G:p.Q171R	.	426	1092	3	1	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	7.7e-05	0.000998403	0.0016	0.0003	0.0003	0	0	0	0	0.0115	0.0013454	208	154602	rs376243069	0.0006	0.0006	0.0003	0.0010	0.0100	0.0006	0.0006	0.0094	0.0092	2.987e-05	0	0	0	0	0	0	0.0005	0.0100	0.0003	0.0003	0.0001	0.0006	0.0097	0.0003	0.0002	0.0075	0.0067	7.214e-05	0	0	0	0	0	0	0	0	0.0097	0.002	0.72154	D	0.122	0.46632	T	0.89	0.48942	P	0.419	0.45047	B	0.196221	0.16717	N	0.626151	0.999999	0.08975	N	1.59	0.40313	L	2.31	0.26301	T	-0.73	0.25118	N	0.056	0.08786	-1.0610	0.11508	T	0.043	0.18576	T	10	0.003907144	0.00074	T	.	.	.	0.090	0.26093	.	.	0.0482279557977	0.04254	0.06784535613038117	0.06722	0.0860855114199	0.09724	0.242057919502	0.02978	T	0.098672	0.40272	T	-0.648108	0.00074	T	-0.695777	0.06060	T	0.053141136249815	0.06044	T	0.533947	0.17813	T	0.09001135	0.21048	0.09676948	0.23005	0.09001135	0.21048	0.09676948	0.23005	-4.595	0.33705	T	.	.	0.084	0.18289	B	.;.;.	.;.;.	0.852364	0.12243	8.789	0.97088389387188101	0.32311	0.51899	0.29004	D	AEFGI	0.168315	0.29506	N	-0.435156684321954	0.24245	1.307837	-0.515119340327518	0.21742	1.177639	0.354457906381706	0.19716	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.98	0.963	0.18769	1.081000	0.30402	0.416000	0.18166	-0.123000	0.13640	0.996000	0.39380	0.736000	0.26449	0.008000	0.08271	0.0:0.1798:0.1638:0.6563	4.607	0.11774	522	0.74218	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.011364	0.02632	3181.33	37	chr4	87493913	.	T	C	3181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.691;DP=895;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.538;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	18	0	1	0
chr4	87612877	87612877	C	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C691A:p.P231T	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	0	1460	59	3	0	65	0.0217755	.	.	.	709500	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0107	0.00938498	0.0048	0.0308	0.0027	0	0.0003	0.0023	0.0033	0.0055	0.0044049	681	154602	rs61738509	0.0023	0.0023	0.0022	0.0023	0.0314	0.0022	0.0022	0.0298	0.0292	0.0314	0.0028	0.0033	2.519e-05	0.0005	0.0201	0.0011	0.0047	0.0051	0.0092	0.0092	0.0095	0.0088	0.0277	0.0087	0.0086	0.0264	0.0258	0.0277	0	0.0051	0.0026	0	9.43e-05	0.0170	0.0014	0.0118	0.0054	.	.	.	0.015	0.61642	D	0.376	0.34240	B	0.281	0.40336	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-2.74	0.90735	D	-1.55	0.37566	N	0.075	0.04913	-0.4465	0.70515	T	0.284	0.65635	T	9	0.0040643215	0.00079	T	.	.	.	0.131	0.35738	.	.	0.752457321884	0.75022	0.041629231257064366	0.04107	.	.	.	.	.	0.107497	0.41975	T	-0.49454	0.00614	T	-0.460836	0.26507	T	0.00740487841703859	0.00085	T	0.535646	0.17968	T	0.24967659	0.47964	0.16353863	0.37932	0.24967659	0.47964	0.16353863	0.37932	-2.595	0.06466	T	.	.	.	.	.	.	.	1.421685	0.18386	13.71	0.94658896064943798	0.25273	0.01971	0.05969	N	AEFBI	0.033865	0.04094	N	-0.557574738781123	0.20246	1.065935	-0.654368476876986	0.18106	0.9657944	2.75932204855581E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	2.68	0.30839	0.099000	0.15047	0.412000	0.18122	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.156:0.615:0.1372:0.0918	4.740	0.12385	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.013587	0.026316	0.000000	0.017241	0.012195	0.018939	0.02632	1515.33	41	chr4	87612877	.	C	A	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=1396;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.334;SOR=0.661	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr4	87612896	87612896	C	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C710T:p.A237V	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2871893	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0601162620511	.	.	2.486e-05	0	0	0	0	2.999e-05	0	6.061e-05	1.94e-05	3	154602	rs758321752	6.157e-06	6.156e-06	2.722e-06	9.626e-06	4.472e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	6.546e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.546e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.084	0.41239	T	0.123	0.26785	B	0.057	0.26280	B	.	.	.	.	0.999991	0.08975	N	0.625	0.15840	N	-2.87	0.91478	D	-0.76	0.21215	N	0.07	0.04307	-0.4338	0.70939	T	0.521	0.82096	D	9	0.04656753	0.03863	T	0.060116	0.67892	D	0.125	0.34456	0.342	0.33464	0.397540356873	0.39371	0.01373214506198384	0.01331	.	.	.	.	.	0.087487	0.37954	T	-0.201237	0.20626	T	-0.429985	0.29937	T	0.0253794046955893	0.01323	T	0.486851	0.14885	T	0.110564835	0.26133	0.0805982	0.18244	0.110564835	0.26133	0.0805982	0.18244	-3.5	0.16431	T	.	.	.	.	.	.	.	0.009935	0.04351	1.113	0.69447681625344881	0.08975	0.01806	0.05631	N	AEFBI	0.041873	0.06423	N	-1.16767832870061	0.05495	0.2506582	-1.22192760002339	0.05559	0.2652065	1.17454685083053E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	0.307	0.15057	-0.146000	0.10233	-0.516000	0.08717	-0.902000	0.02317	0.003000	0.16062	0.000000	0.08366	0.692000	0.33898	0.3766:0.2948:0.1292:0.1994	0.879	0.01152	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1707.33	41	chr4	87612896	.	C	T	1707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.617;DP=1388;ExcessHet=0;FS=4.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.768;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	18	0	1	0
chr4	87612988	87612988	G	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.G802T:p.G268W	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1	1459	58	4	0	66	0.022118	.	.	.	709501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.317	.	0.0102	0.00938498	0.0048	0.0308	0.0027	0	0.0003	0.0023	0.0033	0.0055	0.0043919	679	154602	rs61738508	0.0023	0.0023	0.0022	0.0023	0.0314	0.0022	0.0022	0.0298	0.0292	0.0314	0.0028	0.0033	2.519e-05	0.0005	0.0201	0.0011	0.0046	0.0051	0.0092	0.0092	0.0095	0.0088	0.0277	0.0088	0.0086	0.0264	0.0259	0.0277	0	0.0051	0.0026	0	9.422e-05	0.0170	0.0014	0.0118	0.0054	.	.	.	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-2.87	0.91478	D	-2.2	0.49519	N	0.427	0.46649	-0.3287	0.74171	T	0.441	0.77934	T	9	0.0053670406	0.00118	T	.	.	.	0.317	0.63904	.	.	0.894058902907	0.89300	0.015816033081109494	0.01537	.	.	.	.	.	0.105358	0.41575	T	-0.3764	0.03282	T	-0.291136	0.45655	T	0.0411847282565417	0.03905	T	0.49475	0.15329	T	0.17112778	0.37727	0.18662253	0.41845	0.17112778	0.37727	0.18662253	0.41845	-7.872	0.60194	D	.	.	.	.	.	.	.	2.976799	0.39698	21.0	0.85653291510815888	0.16028	0.08728	0.14615	N	AEFBI	0.124935	0.24122	N	-0.111796392611657	0.36879	2.137706	-0.33626799612501	0.26938	1.491313	3.35337049589703E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.59	2.81	0.31971	3.204000	0.50785	4.777000	0.44811	0.676000	0.76740	0.166000	0.23880	0.999000	0.35428	0.046000	0.14843	0.277:0.1863:0.5367:0.0	3.829	0.08378	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.013587	0.026316	0.000000	0.017241	0.009146	0.018939	0.02632	1110.33	44	chr4	87612988	.	G	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.438;DP=1313;ExcessHet=0;FS=5.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.035;SOR=0.677	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr4	87613246	87613246	C	T	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon4:c.C1060T:p.R354C	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1	1503	18	0	0	18	0.00595238	.	.	.	251598	Deafness,_autosomal_dominant_39,_with_dentinogenesis_imperfecta_1|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0011571,MedGen:C1854146,OMIM:605594,Orphanet:166260|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.104125782446	0.0034	0.00299521	0.0046	0.0014	0.0027	0.0002	0.0033	0.0051	0.0046	0.0082	0.0041267	638	154602	rs61731011	0.0051	0.0051	0.0050	0.0052	0.0086	0.0050	0.0050	0.0081	0.0079	0.0007	0.0034	0.0019	0.0009	0.0032	0.0043	0.0054	0.0044	0.0086	0.0037	0.0037	0.0035	0.0039	0.0100	0.0034	0.0033	0.0077	0.0069	0.0008	0.0044	0.0051	0.0026	0.0004	0.0036	0.0068	0.0050	0.0028	0.0100	.	.	.	0.041	0.50514	D	0.849	0.46879	P	0.365	0.43339	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.26	0.87352	D	-0.4	0.13805	N	0.116	0.10483	-0.6847	0.61155	T	0.251	0.62084	T	9	0.0036010146	0.00065	T	0.104126	0.77854	D	0.270	0.58507	.	.	0.697239321783	0.69462	0.007627720905088571	0.00728	.	.	.	.	.	0.076672	0.35474	T	-0.469164	0.00860	T	-0.44129	0.28663	T	0.010737814249742	0.00151	T	0.476352	0.14285	T	0.12908445	0.30160	0.040439036	0.04369	0.12908445	0.30160	0.040439036	0.04369	-7.173	0.55288	T	.	.	.	.	.	.	.	2.146961	0.27346	17.43	0.75205302839743293	0.10985	0.01364	0.04664	N	AEFBI	0.049265	0.08492	N	-0.788173667058696	0.13618	0.6721469	-0.880615633530191	0.12553	0.6464123	1.39743105871845E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	1.3	0.20778	1.970000	0.40144	-0.586000	0.08350	-0.125000	0.13442	0.056000	0.21631	0.003000	0.18671	0.022000	0.11911	0.2489:0.1691:0.413:0.1691	1.009	0.01400	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.005435	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	986.33	44	chr4	87613246	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=807;ExcessHet=0;FS=8.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.703;SOR=0.242	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1341	18	0	1	0
chr4	87614674	87614674	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2012A:p.S671N	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	838	678	6	0	0	6	0.00440529	.	.	.	981478	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.223	.	.	0.00419329	0.0046	0.0013	0.0024	0	0	0.0096	0	0.0005	0.0013325	206	154602	rs200839637	0.0097	0.0094	0.0099	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0017	0.0091	0.0023	5.639e-05	0.0054	0.0083	0.0114	0.0087	0.0011	0.0075	0.0076	0.0080	0.0070	0.0122	0.0072	0.0070	0.0115	0.0112	0.0020	0	0.0115	0.0017	0	0.0035	0	0.0122	0.0047	0.0006	.	.	.	0.02	0.58613	D	0.97	0.56973	D	0.696	0.54017	P	.	.	.	.	0.949938	0.26521	N	0	0.06538	N	-2.29	0.87591	D	-0.62	0.18248	N	0.151	0.15469	-0.3154	0.74551	T	0.575	0.84639	D	9	0.0046225786	0.00096	T	.	.	.	0.223	0.52023	.	.	0.695313823607	0.69269	4.7231894002254537E-4	0.00043	.	.	.	.	.	0.077034	0.35561	T	-0.445753	0.01196	T	-0.402682	0.33073	T	0.024889325772433	0.01258	T	0.289271	0.05243	T	0.21238178	0.43588	0.23768647	0.49073	0.21238178	0.43588	0.23768647	0.49071	-6.484	0.50163	T	.	.	.	.	.	.	.	1.327723	0.17323	13.10	0.54694675023959471	0.05189	0.16020	0.19193	N	AEFGBCI	0.066007	0.12904	N	-0.299982378011202	0.29150	1.613941	-0.44165611348653	0.23787	1.299006	0.411513737354503	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	2.54	2.54	0.29674	0.290000	0.18731	3.319000	0.37529	0.292000	0.18798	0.001000	0.13787	0.476000	0.25077	0.082000	0.17360	0.0:0.0:1.0:0.0	11.287	0.48462	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015366	0.011905	0.011905	0.008696	0.000000	0.000000	0.030120	0.010870	0.02632	1137.33	33	chr4	87614674	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.814;DP=953;ExcessHet=0;FS=6.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.78;MQRankSum=-0.889;QD=16.25;ReadPosRankSum=-1.433;SOR=1.272	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr4	87614857	87614857	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2195A:p.S732N	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1017	504	1	0	0	1	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.158704414852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.149e-07	6.841e-07	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	0.945	0.53279	P	0.682	0.53531	P	.	.	.	.	0.983392	0.24888	N	1.905	0.50856	L	-2.3	0.87671	D	-0.89	0.24026	N	0.099	0.08088	-0.3296	0.74145	T	0.574	0.84612	D	9	0.17967817	0.33113	T	0.158704	0.83904	D	0.224	0.52174	0.288	0.24761	0.631234674197	0.62822	0.0011717635514484333	0.00108	.	.	.	.	.	0.07964	0.36175	T	-0.134436	0.30780	T	-0.430885	0.29835	T	0.0968378683112338	0.12005	T	0.446455	0.12522	T	0.13515247	0.31377	0.07257995	0.15676	0.13515247	0.31377	0.07257995	0.15675	-9.208	0.69025	D	.	.	.	.	.	.	.	0.840393	0.12120	8.672	0.51158725467984845	0.04512	0.05398	0.11265	N	AEFGBCI	0.036619	0.04908	N	-0.512925306006482	0.21660	1.151216	-0.77542835506181	0.15098	0.7923857	0.195288096958117	0.18051	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.07	1.07	0.19399	-0.052000	0.11821	0.625000	0.20170	-2.332000	0.00313	0.000000	0.06391	0.096000	0.22607	0.000000	0.00833	0.0:0.0:1.0:0.0	5.525	0.16241	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	68	chr4	87614857	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=781;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.463;SOR=0.504	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr4	87615164	87615167	TAGC	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	587.39	41	chr4	87615164	.	TAGC	*	587.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.478;DP=658;ExcessHet=0.119;FS=0.933;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.293;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:80:.:.:0,80,1016:.	18	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2637.11	51	chr4	87615398	.	T	*	2637.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.46;DP=671;ExcessHet=1.8686;FS=3.681;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=59.87;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.604;SOR=0.614	GT:AD:DP:GQ:PL	0/1:15,9:24:99:289,0,580	15	0	4	0
chr4	87615614	87615614	-	AGCAGTGACAGCAGTGATAGCAGTGAC	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.2952_2953insAGCAGTGACAGCAGTGATAGCAGTGAC:p.S1001_N1002insDSSDSSDSS	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1190238	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0091	0.0025	0	0	0.0001	0.0053	0	3.84e-05	1	26028	rs755728099	0.0004	0.0004	0.0004	0.0003	0.0145	0.0003	0.0003	0.0133	0.0128	0.0145	0.0011	0	0	0	0.0002	1.299e-05	0.0009	3.795e-05	0.0049	0.0067	0.0054	0.0043	0.0194	0.0046	0.0044	0.0181	0.0176	0.0194	0	0.0020	0	0	0	0	7.506e-05	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	357.29	51	chr4	87615614	.	T	TAGCAGTGACAGCAGTGATAGCAGTGAC	357.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.842;DP=748;ExcessHet=0;FS=3.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-2.229;SOR=0.26	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1093	18	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:14:99:0|1:87615730_ATAG_A:1049,249,227:87615730	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:14:99:0|1:87615730_ATAG_A:1040,240,218:87615730	5	3	10	1
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:14:22:1|1:87615730_ATAG_A:822,22,0:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,5:17:99:.:.:218,0,475:.	2	2	9	6
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,0:.	9	2	3	5
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	8	2	3	6
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	8	2	3	6
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	6	2	3	8
chr4	87615974	87615974	C	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.C3312A:p.D1104E	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1152	344	0	1	25	27	0.00289855	.	.	.	2819992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.224	0.110397487395	.	.	0.0012	0.0038	0	0	0	0.0007	0	0.0013	.	.	.	rs766191304	0.0011	0.0008	0.0009	0.0012	0.0087	0.0010	0.0009	0.0070	0.0064	0.0087	0.0015	0.0018	0.0005	0.0005	0.0060	0.0007	0.0021	0.0018	0.0011	0.0076	0.0013	0.0008	0.0034	0.0008	0.0007	0.0021	0.0018	0.0034	0	0.0005	0.0008	0	0	0	0.0005	0	0.0017	.	.	.	0.948	0.02632	T	0.981	0.59675	D	0.426	0.45295	B	.	.	.	.	0.999993	0.08975	N	0	0.06538	N	-2.38	0.88298	D	-0.01	0.07155	N	0.198	0.21839	-0.4795	0.69384	T	0.468	0.79465	T	9	0.010377973	0.00231	T	0.110397	0.78776	D	0.224	0.52174	0.272	0.22210	0.611956068543	0.60883	7.710402196006273E-5	0.00006	.	.	.	.	.	0.064667	0.32493	T	-0.467313	0.00884	T	-0.463053	0.26267	T	0.0101569076584086	0.00137	T	0.405359	0.10397	T	0.05686679	0.11246	0.045882676	0.06271	0.05686679	0.11245	0.045882676	0.06270	-7.043	0.54347	T	.	.	.	.	.	.	.	0.785192	0.11556	8.149	0.69898913637049731	0.09120	0.03750	0.09054	N	AEFCI	0.064105	0.12427	N	-0.903742849511119	0.10754	0.5154663	-1.10457531869887	0.07612	0.3709596	1.19072914003558E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.51	-0.517	0.11350	-1.219000	0.03083	-20.000000	0.00162	-2.840000	0.00175	0.467000	0.26699	0.000000	0.08366	0.000000	0.00833	0.0:0.6029:0.0:0.3971	4.489	0.11213	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.03125	63.98	55	chr4	87615974	.	C	A	63.98	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=1;MLEAF=0.031;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	15	0	1	3
chr4	87615974	87615974	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	11	2	3	3
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3864.36	61	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	*	3864.36	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.884;DP=372;ExcessHet=0.0154;FS=1.012;InbreedingCoeff=0.3517;MLEAC=2;MLEAF=0.059;MQ=58.59;MQRankSum=-2.618;QD=16.87;ReadPosRankSum=-1.488;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,90:.	16	1	0	2
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	877.71	61	chr4	87616019	.	CAGCAGCAAT	*	877.71	.	AC=5;AF=0.179;AN=28;DP=392;ExcessHet=0.0295;FS=0.482;InbreedingCoeff=0.3156;MLEAC=6;MLEAF=0.214;MQ=50.45;QD=3.82;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:5,0:5:0:.:.:0,0,0:.	10	1	3	5
chr4	87616046	87616046	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	839.57	61	chr4	87616046	.	C	*	839.57	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.517;DP=479;ExcessHet=0.0154;FS=1.009;InbreedingCoeff=0.3193;MLEAC=6;MLEAF=0.2;MQ=53.38;MQRankSum=-0.366;QD=3.62;ReadPosRankSum=-0.171;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,0:.	11	1	3	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	848.5	61	chr4	87616061	.	T	*	848.5	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.914;DP=485;ExcessHet=0.0678;FS=0;InbreedingCoeff=0.1824;MLEAC=9;MLEAF=0.563;MQ=54.94;MQRankSum=0;QD=3.66;ReadPosRankSum=1.32;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,0:.	4	1	3	11
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	802.61	61	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	*	802.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.732;DP=494;ExcessHet=0.0234;FS=0;InbreedingCoeff=0.1263;MLEAC=8;MLEAF=0.5;MQ=55.85;MQRankSum=0.137;QD=3.47;ReadPosRankSum=1.8;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,193:.	4	1	3	11
chr4	87616153	87616153	-	CAGCAG	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.3491_3492insCAGCAG:p.S1166_D1167insSS	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0169	0	0.0020	0	0	0	0.0002	3.84e-05	1	26028	rs748605173	0.0002	0.0002	0.0003	0.0002	0.0062	0.0002	0.0002	0.0055	0.0052	0.0062	0.0008	0	0	0	0	1.536e-05	0.0008	3.056e-05	0.0011	0.0013	0.0012	0.0009	0.0028	0.0009	0.0008	0.0024	0.0022	0.0028	0	0.0009	0	0	0	0	2.509e-05	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	215.5	54	chr4	87616153	.	A	ACAGCAG	215.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.857;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=0.2811;MLEAC=1;MLEAF=0.036;MQ=57.41;MQRankSum=-0.435;QD=11.97;ReadPosRankSum=1.5;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:94:.:.:0,94,1098:.	13	0	1	5
chr4	87616154	87616154	-	GAC	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.3492_3493insGAC:p.D1164_S1165insD	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.0357	0.0127	0.0044	0	0	0	0.0003	0.000414	64	154602	.	0.0004	0.0002	0.0004	0.0003	0.0088	0.0003	0.0003	0.0078	0.0074	0.0088	0.0014	0	0	5.376e-05	0	2.762e-05	0.0013	4.251e-05	0.0026	0.0026	0.0028	0.0023	0.0066	0.0022	0.0020	0.0055	0.0051	0.0066	0	0.0020	0	0	0	0	5.809e-05	0.0017	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	326.66	54	chr4	87616154	.	T	TGAC	326.66	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.116;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=0.1783;MLEAC=1;MLEAF=0.042;MQ=57.53;MQRankSum=-0.435;QD=18.15;ReadPosRankSum=1.45;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:63:0,63,1002	11	0	1	7
chr4	87616286	87616304	TGACAGCAGTGACAGCAGC	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	288	1156	28	4	46	82	0.0153322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2652.39	57	chr4	87616286	.	TGACAGCAGTGACAGCAGC	*	2652.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=998;ExcessHet=2.9153;FS=8.113;InbreedingCoeff=-0.2107;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0;QD=8.42;ReadPosRankSum=0.262;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:23,0:26:2:0|1:87616271_T_C:2,74,1036:87616271	18	0	1	0
chr4	88074922	88074922	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2633C:p.R878T	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.193772046792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.041	0.50514	D	0.958	0.54977	D	0.477	0.46994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	-0.71	0.94210	T	-3.28	0.75456	D	0.634	0.71143	0.635	0.92355	D	0.764	0.91977	D	10	0.634155	0.68686	D	0.193772	0.86323	D	0.664	0.87479	0.397	0.42426	0.801497669902	0.79964	0.5172733941162925	0.51650	0.629044018117	0.56961	0.750374495983	0.74502	T	0.671874	0.90270	D	0.256558	0.79210	D	0.130752	0.78941	D	0.945891737937927	0.62357	D	0.887111	0.61778	D	0.7248052	0.79430	0.35795867	0.61281	0.7248052	0.79432	0.35795867	0.61280	-9.61	0.71542	D	0.5364749130101842	0.60667	0.794	0.77002	P	.;.;.	.;.;.	4.563145	0.71921	25.7	0.9842603256989868	0.41343	0.97873	0.77771	D	AEFBI	0.689637	0.65023	D	0.533677920757637	0.69094	5.308532	0.547393928302615	0.71217	5.621106	0.999999996677224	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	4.769000	0.61997	6.234000	0.55243	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0789:0.0:0.9211:0.0	12.750	0.56677	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	662.54	152	chr4	88074922	.	G	C	662.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.875;DP=1096;ExcessHet=0.119;FS=72.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=1.33;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	17	0	2	0
chr4	88074923	88074923	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2634C:p.R878S	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.117150427752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.919	0.50927	P	0.324	0.41853	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.795	0.47270	L	-0.71	0.94260	T	-3.31	0.75776	D	0.572	0.72031	0.182	0.85604	D	0.695	0.89499	D	10	0.42900562	0.57366	T	0.11715	0.79684	D	0.580	0.83081	0.368	0.37687	0.909963269897	0.90906	0.5166367591930537	0.51586	0.497480275096	0.48245	0.722716212273	0.70442	T	0.675153	0.90401	D	0.25385	0.78959	D	0.126861	0.78686	D	0.970878064632416	0.69109	D	0.938806	0.77472	D	0.896837	0.91102	0.6834038	0.81389	0.896837	0.91103	0.6834038	0.81390	-8.895	0.67018	D	0.6920299610958898	0.76989	0.908	0.83281	P	.;.;.	.;.;.	3.508895	0.49129	22.7	0.99398677795618395	0.62702	0.90280	0.51331	D	AEFBI	0.459311	0.50997	N	0.113047022420986	0.47071	2.937997	0.0907906910271631	0.44084	2.697048	0.993910564295063	0.33408	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	2.32	0.27895	0.055000	0.14112	-0.757000	0.07552	0.674000	0.70861	0.961000	0.33663	0.000000	0.08366	0.996000	0.76049	0.4372:0.0:0.5628:0.0	8.137	0.30223	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	669.77	152	chr4	88074923	.	G	C	669.77	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.65;DP=1418;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.1518;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=1.23;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	12	0	3	4
chr4	88074924	88074924	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2635C:p.E879Q	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.112397220531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.473e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.019	0.59159	D	0.791	0.44643	P	0.272	0.39956	B	0.000009	0.62929	D	0.108957	0.999999	0.58761	D	0.97	0.24054	L	-0.38	0.92721	T	-1.72	0.50337	N	0.297	0.33578	0.520	0.90832	D	0.688	0.89209	D	10	0.3064313	0.48153	T	0.112397	0.79053	D	0.445	0.74727	0.236	0.16608	0.809187118209	0.80740	0.2323479368635527	0.23149	0.441181269079	0.44114	0.624371409416	0.56347	T	0.458108	0.79621	T	0.0415826	0.57252	T	-0.178046	0.56702	T	0.874872863292694	0.52474	D	0.941106	0.80823	D	0.5887539	0.72083	0.31472978	0.57463	0.5887539	0.72084	0.31472978	0.57462	-7.72	0.59147	D	0.4693575316286415	0.55010	0.334	0.55466	B	.;.;.	.;.;.	6.160708	0.94696	34	0.99806513379381534	0.89085	0.99479	0.96535	D	AEFBI	0.914687	0.87842	D	0.526904719780556	0.68688	5.251508	0.595493025066105	0.74617	6.167515	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	11.277000	0.91602	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	664.87	152	chr4	88074924	.	G	C	664.87	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.468;DP=1554;ExcessHet=0.3672;FS=72.925;InbreedingCoeff=-0.0876;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.74;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	16	0	3	0
chr4	88074926	88074926	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2637C:p.E879D	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0132159678033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.11696	T	0.506	0.15988	T	0.001	0.07471	B	0.002	0.06944	B	0.000009	0.62929	D	0.108957	0.994276	0.42222	D	-0.175	0.04276	N	-0.12	0.91748	T	-0.39	0.23372	N	0.175	0.18784	-0.6676	0.61937	T	0.446	0.78240	T	10	0.06906125	0.09857	T	0.013216	0.32452	T	0.238	0.54217	0.264	0.20946	0.543338240752	0.53986	0.0943286253012517	0.09364	0.136679722396	0.15416	0.641091346741	0.58718	T	0.217668	0.58017	T	-0.0922547	0.37703	T	-0.370294	0.36854	T	0.343256384134293	0.26753	T	0.837116	0.53152	T	0.21597725	0.44044	0.06672414	0.13707	0.21597725	0.44044	0.06672414	0.13707	-3.285	0.13545	T	0.07235216256458038	0.02959	0.097	0.15832	B	.;.;.	.;.;.	1.362800	0.17722	13.33	0.97928484891759715	0.36935	0.81502	0.40892	D	AEFBI	0.180401	0.30771	N	-0.499784004579977	0.22087	1.176955	-0.347792612377083	0.26577	1.468931	0.98905284296543	0.31709	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	0.784	0.17723	0.433000	0.21196	0.778000	0.21455	0.674000	0.70861	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.3295:0.1252:0.4019:0.1434	1.682	0.02663	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	681.82	148	chr4	88074926	.	G	C	681.82	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.303;DP=1459;ExcessHet=0.3672;FS=149.221;InbreedingCoeff=-0.0864;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.09;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	16	0	3	0
chr4	88074927	88074927	G	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon14:c.G2638C:p.V880L	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.186659707726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.297	0.20551	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	-0.18	0.91363	T	-1.05	0.31170	N	0.569	0.64903	0.598	0.91874	D	0.793	0.92976	D	10	0.531262	0.63196	D	0.18666	0.85889	D	0.495	0.78036	0.262	0.20631	0.749126465336	0.74686	0.3240488697657572	0.32317	0.182851890055	0.20557	0.781355142593	0.79132	T	0.241685	0.61027	T	0.210705	0.74897	D	0.064886	0.74569	D	0.883527338504791	0.53370	D	0.874113	0.58433	D	0.4644023	0.64945	0.31679553	0.57658	0.4644023	0.64946	0.31679553	0.57657	-6.43	0.49744	T	0.4873731798686394	0.56489	0.616	0.69546	P	.;.;.	.;.;.	4.222023	0.63864	24.6	0.99771217554887515	0.85918	0.99479	0.96535	D	AEFBI	0.920682	0.89303	D	0.741181393272166	0.82329	7.735918	0.739806151862471	0.85392	8.567346	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	9.708000	0.97969	8.008000	0.76178	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.352	0.90284	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	690.46	116	chr4	88074927	.	G	C	690.46	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.365;DP=1500;ExcessHet=0.3672;FS=265.844;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.18;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	9	0	3	7
chr4	88131846	88131846	G	T	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon4:c.C335A:p.P112Q,ABCG2:NM_001348986:exon4:c.C335A:p.P112Q,ABCG2:NM_001348987:exon4:c.C335A:p.P112Q,ABCG2:NM_001348989:exon4:c.C335A:p.P112Q,ABCG2:NM_004827:exon4:c.C335A:p.P112Q,ABCG2:NM_001348985:exon5:c.C335A:p.P112Q,ABCG2:NM_001348988:exon5:c.C335A:p.P112Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0457920311462	0.0004	0.000199681	0.0004	0	0	0	0.0002	0.0006	0	0.0002	0.0004075	63	154602	rs199473672	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	8.965e-05	0.0003	0	0	0.0007	0.0004	0.0007	0.0007	0.0001	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0004	0	0	0.0002	0	0.0006	0.0005	0.0002	0.042	0.41637	D	0.266	0.26798	T	0.99	0.67487	D	0.94	0.74104	D	0.003489	0.34874	N	0.337453	0.981	0.39673	D	1.085	0.27262	L	-3.3	0.93787	D	-5.31	0.85994	D	0.475	0.52475	0.497	0.90502	D	0.774	0.92318	D	10	0.23077849	0.40037	T	0.045792	0.62152	D	0.425	0.73299	.	.	0.859353189731	0.85799	.	.	0.0498133257388	0.05466	0.319958329201	0.13414	T	0.542	0.84325	D	-0.156062	0.27366	T	-0.0955068	0.63744	T	0.184478706836679	0.19513	T	0.820618	0.92599	T	0.37096688	0.58656	0.36388996	0.61767	0.37096688	0.58657	0.36388996	0.61767	-6.271	0.51728	T	.	.	0.123	0.30555	B	.;.;.;.	.;.;.;.	2.326467	0.29799	18.24	0.97735557092085101	0.35646	0.92372	0.55559	D	AEFI	0.352784	0.44543	N	-0.220439474644554	0.32296	1.819842	-0.278842559776506	0.28795	1.60835	0.937026500810224	0.27279	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	2.7	0.31007	1.930000	0.39753	4.338000	0.43048	-0.746000	0.03629	0.996000	0.39380	1.000000	0.68203	0.064000	0.16252	0.0782:0.1318:0.79:0.0	11.006	0.46848	599	0.68140	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	34	chr4	88131846	.	G	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=749;ExcessHet=0;FS=1.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.003;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr4	88262639	88262639	A	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon7:c.T1075A:p.F359I	.	432	1089	1	0	0	1	0.000458926	.	.	.	1042970	Maple_syrup_urine_disease,_mild_variant|not_specified	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0107922884151	.	0.000599042	8.259e-05	0	0	0	0	6.009e-05	0	0.0004	8.41e-05	13	154602	rs149239581	4.857e-05	4.857e-05	3.948e-05	5.775e-05	0.0003	3.926e-05	3.605e-05	0.0002	0.0002	0	0	0	0	0	0.0003	3.237e-05	8.279e-05	0.0003	5.909e-05	5.906e-05	6.425e-05	5.37e-05	0.0006	3.075e-05	2.208e-05	0.0002	9.003e-05	0	0	0	0	0	0	0	5.88e-05	0.0009	0.0006	.	.	.	0.186	0.28860	T	0.842	0.46562	P	0.397	0.44399	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	.	.	.	.	.	.	0.337	0.48134	-1.1029	0.03758	T	0.044	0.18989	T	10	0.0653106	0.08793	T	0.010792	0.27726	T	0.188	0.46444	.	.	0.321108458156	0.31720	0.5995945173986417	0.59890	0.675708907867	0.59721	0.685662508011	0.65082	T	0.195604	0.55173	T	-0.155037	0.27526	T	-0.160152	0.58339	T	0.280202925205231	0.24180	T	0.782722	0.44691	T	0.2459458	0.47558	0.26094437	0.51865	0.2459458	0.47558	0.26094437	0.51864	-2.103	0.03597	T	.	.	0.148	0.46061	B	.;.;.	.;.;.	4.119669	0.61562	24.4	0.9876005310018755	0.45800	0.96898	0.71543	D	AEFBI	0.818633	0.73984	D	0.265232907150045	0.54397	3.605294	0.337420904785853	0.57753	3.942316	0.999901317746302	0.45458	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.09	4.09	0.47038	7.016000	0.76135	10.816000	0.83832	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.007	0.58115	670	0.60992	.;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1715.33	34	chr4	88262639	.	A	T	1715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=773;ExcessHet=0;FS=2.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.777;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1378	18	0	1	0
chr4	88262657	88262657	T	C	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon7:c.A1057G:p.K353E	.	430	1091	1	0	0	1	0.000458085	.	.	.	1381493	not_specified|Maple_syrup_urine_disease,_mild_variant	MedGen:CN169374|MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.0059092032038	0.0002	.	4.127e-05	0	0	0	0	6.005e-05	0.0011	0	3.23e-05	5	154602	rs199904313	1.847e-05	1.847e-05	1.77e-05	1.925e-05	0.0009	1.265e-05	1.084e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	1.349e-05	6.624e-05	2.319e-05	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.546e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.135	0.37589	T	0.016	0.17332	B	0.008	0.13708	B	0.000003	0.62929	D	0.099477	0.999886	0.50402	D	1.245	0.31408	L	.	.	.	.	.	.	0.158	0.30233	-1.0905	0.05449	T	0.039	0.16634	T	10	0.11277264	0.21164	T	0.005909	0.15400	T	0.033	0.08068	.	.	0.45746916685	0.45369	0.5675829352976484	0.56686	0.367430760689	0.38303	0.594821214676	0.52174	T	0.083029	0.36963	T	-0.115586	0.33847	T	-0.340162	0.40326	T	0.538121581077576	0.34034	D	0.80172	0.45334	T	0.1761636	0.38515	0.20462559	0.44594	0.1761636	0.38515	0.20462559	0.44593	-6.965	0.53778	T	.	.	0.134	0.29060	B	.;.;.	.;.;.	3.268787	0.44732	22.0	0.99774869043139303	0.86260	0.92910	0.56848	D	AEFBI	0.688346	0.64938	D	-0.134985618056538	0.35875	2.066304	0.0461518471088958	0.41885	2.524005	0.724458079564429	0.22971	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.09	4.09	0.47038	5.854000	0.69242	5.915000	0.51078	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.007	0.58115	670	0.60992	.;PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2131.33	34	chr4	88262657	.	T	C	2131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.529;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.646;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1378	18	0	1	0
chr4	88268282	88268282	C	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon5:c.G760A:p.V254I	.	.	.	.	.	.	.	.	.	.	.	1882410	Maple_syrup_urine_disease,_mild_variant	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.00917803285648	0.0002	0.000599042	0.0003	0	8.642e-05	0.0001	0	8.991e-05	0	0.0015	0.0002329	36	154602	rs149542046	8.414e-05	8.414e-05	6.262e-05	0.0001	0.0008	7.203e-05	6.75e-05	0.0007	0.0006	2.987e-05	6.708e-05	0	2.519e-05	0	0.0005	2.878e-05	0.0002	0.0008	5.254e-05	5.25e-05	3.855e-05	6.716e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0.0012	0.0	0.91255	D	0.211	0.26631	T	0.963	0.55692	D	0.696	0.54017	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	2.09	0.20122	T	-0.9	0.24244	N	0.406	0.46086	-1.0279	0.21136	T	0.101	0.37543	T	10	0.04021308	0.02571	T	0.009178	0.24130	T	0.216	0.50959	.	.	0.752511674912	0.75027	0.6833170224610805	0.68270	0.553159282221	0.52090	0.779396772385	0.78837	T	0.12892	0.45688	T	-0.323535	0.06612	T	-0.283064	0.46490	T	0.196047378047823	0.20195	T	0.950005	0.89615	D	0.64105517	0.74887	0.5864237	0.76014	0.64105517	0.74888	0.5864237	0.76015	-7.91	0.60455	D	.	.	0.179	0.43448	B	.;.;.	.;.;.	4.830483	0.78760	27.0	0.9985298598836847	0.93191	0.98390	0.82288	D	AEFBI	0.877200	0.80169	D	0.717060133172923	0.80751	7.364082	0.713546492506702	0.83409	8.013558	0.999999991373662	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.94	4.94	0.64645	7.570000	0.81721	7.425000	0.58746	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.475	0.87550	670	0.60992	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2125.33	33	chr4	88268282	.	C	T	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=794;ExcessHet=0;FS=1.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.537;SOR=0.57	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	88435891	88435891	A	T	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon17:c.A2309T:p.K770M,HERC6:NM_017912:exon18:c.A2417T:p.K806M	.	10	215	1	0	0	1	0.00232019	0.0001	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.76473	D	0.4	0.36182	B	0.075	0.32463	B	0.060233	0.22264	N	0.448896	0.688552	0.30213	N	3.29	0.90338	M	0.23	0.59717	T	-4.38	0.77143	D	0.312	0.35194	-0.8845	0.49398	T	0.168	0.50762	T	10	0.35688514	0.52417	T	0.030968	0.53161	D	0.148	0.39182	0.52	0.62217	0.813973308528	0.81222	0.42178055179047824	0.42095	0.290169740636	0.31425	0.309795558453	0.11877	T	0.030858	0.21775	T	-0.0285127	0.47634	T	-0.278733	0.46934	T	0.969491004943848	0.68610	D	0.865813	0.56597	D	0.48294795	0.66078	0.42872787	0.66577	0.48294795	0.66079	0.42872787	0.66577	-10.175	0.74953	D	.	.	0.178	0.39081	B	.;.	.;.	1.804956	0.22940	15.82	0.99443604314323719	0.64921	0.45530	0.27559	N	AEFBI	0.210898	0.33673	N	-0.359602001772994	0.26922	1.473045	-0.406889529544571	0.24795	1.359783	0.0051625464258011	0.10849	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.7	0.954	0.18719	0.292000	0.18766	0.916000	0.22667	-0.109000	0.15193	0.572000	0.27522	0.966000	0.29516	0.196000	0.21779	0.5161:0.0:0.4839:0.0	8.17	0.30410	742	0.52873	.;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	28	chr4	88435891	.	A	T	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.23;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr4	88504356	88504356	G	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon21:c.G2707A:p.E903K	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0126514632592	0.0020	0.000798722	0.0019	0.0005	0.0005	0	0.0008	0.0030	0.0011	0.0008	0.0019728	305	154602	rs141622783	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0033	0.0032	0.0003	0.0004	7.675e-05	0	0.0007	0.0007	0.0033	0.0017	0.0009	0.0016	0.0016	0.0016	0.0015	0.0029	0.0014	0.0013	0.0026	0.0024	0.0006	0	0.0004	0	0	0.0004	0	0.0029	0.0014	0.0008	0.174	0.31088	T	0.1	0.42086	T	0.61	0.39628	P	0.206	0.37138	B	0.170900	0.17378	N	0.441650	0.959862	0.26169	N	3.085	0.87354	M	0.39	0.57419	T	-2.14	0.55181	N	0.3	0.33904	-0.8192	0.53984	T	0.154	0.48412	T	10	0.017840087	0.00383	T	0.012651	0.31409	T	0.245	0.55201	.	.	0.657455092868	0.65459	0.7232464949343388	0.72268	0.227251636705	0.25277	0.363119006157	0.19840	T	0.051207	0.28814	T	-0.34942	0.04763	T	-0.273603	0.47456	T	0.0678192026261492	0.08343	T	0.750625	0.37241	T	0.13662615	0.31665	0.17004263	0.39084	0.13662615	0.31664	0.17004263	0.39083	-5.882	0.45281	T	.	.	0.077	0.07507	B	.;.	.;.	2.651460	0.34524	19.65	0.99788184362064047	0.87396	0.21696	0.21492	N	AEFGBI	0.147614	0.27133	N	-0.112810100842337	0.36834	2.134538	-0.181212302979921	0.32228	1.831442	0.997681446676739	0.35903	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	0.291000	0.18748	5.789000	0.49856	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	14.995	0.71081	835	0.38313	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2346.33	33	chr4	88504356	.	G	A	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=843;ExcessHet=0;FS=3.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.577;SOR=0.483	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1363	18	0	1	0
chr4	88704237	88704237	A	T	exonic	HERC3	.	nonsynonymous SNV	HERC3:NM_001375477:exon22:c.A2419T:p.M807L,HERC3:NM_001375481:exon22:c.A2257T:p.M753L,HERC3:NM_001271602:exon23:c.A2443T:p.M815L,HERC3:NM_001375478:exon23:c.A2773T:p.M925L,HERC3:NM_001375482:exon23:c.A2773T:p.M925L,HERC3:NM_001375479:exon24:c.A2773T:p.M925L,HERC3:NM_001375480:exon24:c.A2794T:p.M932L,HERC3:NM_001375483:exon24:c.A2773T:p.M925L,HERC3:NM_014606:exon24:c.A2797T:p.M933L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0153411246528	0.0033	0.00119808	0.0020	0.0007	0.0003	0	0.0008	0.0034	0	0.0002	0.0024644	381	154602	rs61750820	0.0046	0.0046	0.0048	0.0045	0.0058	0.0045	0.0045	0.0057	0.0057	0.0004	0.0005	0	0	0.0008	0.0002	0.0058	0.0026	0.0003	0.0028	0.0028	0.0029	0.0026	0.0054	0.0025	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	0.0003	0	0.0054	0.0005	0.0006	0.175	0.22400	T	0.35	0.17478	T	0.997	0.70673	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.325	0.03546	N	0.98	0.42122	T	-1.26	0.31778	N	0.549	0.57690	-1.0370	0.18233	T	0.075	0.30179	T	10	0.011879921	0.00258	T	0.015341	0.36015	T	0.319	0.64112	0.63	0.76588	0.551732665033	0.54831	0.7594565624804365	0.75893	1.42206919977	0.85631	0.664188981056	0.62009	T	0.027449	0.20098	T	-0.170803	0.25112	T	-0.0101617	0.69674	D	0.0453315118011441	0.04662	T	0.952805	0.82030	D	0.35361192	0.57346	0.30972826	0.56986	0.35361192	0.57347	0.30972826	0.56985	-7.063	0.54493	T	.	.	0.277	0.51059	B	.;.	.;.	4.131010	0.61814	24.4	0.95716628151126648	0.27633	0.99110	0.91373	D	AEFBI	0.887435	0.81968	D	0.362733286092775	0.59415	4.120735	0.45771118800367	0.65214	4.795532	0.999999999972303	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	9.325000	0.96006	9.082000	0.78719	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.353	0.74119	780	0.47616	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1417.33	34	chr4	88704237	.	A	T	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=721;ExcessHet=0;FS=3.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.565;SOR=1.078	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	18	0	1	0
chr4	89113599	89113599	A	G	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.A625G:p.I209V,TIGD2:NM_145715:exon2:c.A625G:p.I209V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00255541439843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	0.777	0.04372	T	0.01	0.15535	B	0.014	0.16862	B	0.001150	0.40056	U	0.000000	0.996628	0.22956	N	0.34	0.10450	N	0.97	0.42502	T	-0.44	0.14588	N	0.207	0.23380	-1.0209	0.23421	T	0.041	0.17657	T	10	0.14162946	0.26908	T	0.002555	0.05121	T	0.077	0.22490	0.606	0.73825	0.0806252709748	0.07271	0.13765932295039565	0.13689	0.107368357967	0.12116	0.775893688202	0.78308	T	0.013056	0.11362	T	-0.223477	0.17519	T	-0.558785	0.16491	T	0.0811668559908867	0.10136	T	0.562944	0.19809	T	0.03537188	0.04150	0.043256693	0.05342	0.03537188	0.04150	0.043256693	0.05342	-3.231	0.12863	T	.	.	0.141	0.34160	B	.;.	.;.	2.386713	0.30647	18.50	0.83240909406676467	0.14618	0.56264	0.30073	D	ALL	0.157337	0.28283	N	-0.520303011217118	0.21425	1.136879	-0.322129071818974	0.27385	1.519198	0.999999999060547	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	3.97	2.69	0.30923	0.940000	0.28589	9.359000	0.80360	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.6441:0.3559:0.0:0.0	8.319	0.31280	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	56.34	33	chr4	89113599	.	A	G	56.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.82;DP=1160;ExcessHet=0;FS=115.834;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.44;ReadPosRankSum=2.48;SOR=9.17	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1544	18	0	1	0
chr4	89248895	89248895	G	A	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.C1216T:p.R406W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0045	0.00479233	0.0010	0.0109	0.0006	0.0001	0	8.998e-05	0	0.0001	0.0010284	159	154602	rs35246727	0.0004	0.0004	0.0005	0.0003	0.0131	0.0004	0.0003	0.0120	0.0116	0.0131	0.0005	3.826e-05	7.557e-05	1.872e-05	0.0003	3.777e-05	0.0006	0.0001	0.0030	0.0030	0.0032	0.0028	0.0104	0.0028	0.0027	0.0096	0.0093	0.0104	0	0.0008	0	0	0	0	0.0001	0.0014	0	0.008	0.58626	D	0.027	0.55341	D	0.85	0.46913	P	0.34	0.42389	B	0.080647	0.20912	N	0.248292	1	0.08975	N	0.345	0.11182	N	2.86	0.10482	T	-0.98	0.25986	N	0.114	0.12484	-1.0012	0.29574	T	0.005	0.01797	T	10	0.0029663146	0.00048	T	.	.	.	0.123	0.34020	.	.	0.0986583533028	0.09354	0.13000009391845505	0.12925	0.0995205097504	0.11235	0.19720852375	0.00380	T	0.003412	0.02819	T	-0.714207	0.00030	T	-0.78929	0.02184	T	0.0104284453435844	0.00144	T	0.60234	0.22547	T	0.04971857	0.08872	0.040559717	0.04412	0.04971857	0.08871	0.040559717	0.04412	-6.625	0.51244	T	.	.	0.104	0.20663	B	.;.	.;.	1.840950	0.23390	16.00	0.95737196482486764	0.27687	0.08035	0.14011	N	AEFDBI	0.199969	0.32674	N	-1.095732552912	0.06721	0.3102285	-1.14467712406672	0.06864	0.3318735	0.99997231075198	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.26	2.61	0.30255	0.514000	0.22492	0.705000	0.20878	-0.905000	0.02300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4696:0.3876:0.1427	8.253	0.30895	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2099.33	42	chr4	89248895	.	G	A	2099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=1366;ExcessHet=0;FS=2.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.979;SOR=0.92	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr4	89249875	89249875	G	T	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.C236A:p.S79Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0112762485079	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs753838335	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0002	4.38e-06	3.46e-06	3.765e-05	2.662e-05	0	0	0	2.519e-05	0	0.0002	2.698e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.238	0.24549	T	0.964	0.55854	D	0.778	0.57212	P	0.317830	0.14323	N	0.522915	0.938648	0.26858	N	2.28	0.64929	M	2.82	0.10871	T	-2.75	0.58407	D	0.27	0.32812	-1.0796	0.07426	T	0.032	0.13723	T	10	0.26619315	0.44121	T	0.011276	0.28743	T	0.102	0.29158	0.226	0.15109	0.20549828249	0.20151	0.1577961695757472	0.15700	0.28731896017	0.31136	0.356104791164	0.18818	T	0.013092	0.11390	T	-0.303627	0.08322	T	-0.492388	0.23141	T	0.918883621692657	0.57735	D	0.508649	0.16166	T	0.18577647	0.39956	0.29181015	0.55206	0.18577647	0.39956	0.29181015	0.55205	-6.369	0.49267	T	.	.	0.124	0.26074	B	.;.	.;.	4.298038	0.65597	24.9	0.99386687301497345	0.62157	0.91950	0.54615	D	AEFBI	0.474651	0.51882	N	0.198464636475918	0.51126	3.296313	0.20601095963215	0.50182	3.21283	0.998928749782908	0.37985	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	3.101000	0.49974	9.576000	0.81019	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.019000	0.11356	0.1251:0.0:0.8749:0.0	9.597	0.38745	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2614.33	42	chr4	89249875	.	G	T	2614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.568;DP=916;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.866;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr4	89936369	89936369	C	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C2689A:p.Q897K,MMRN1:NM_001371403:exon7:c.C2689A:p.Q897K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.021434612188	0.0042	0.00139776	0.0027	0.0010	0.0032	0	0.0006	0.0041	0.0011	0.0003	0.0030595	473	154602	rs41279299	0.0044	0.0044	0.0045	0.0043	0.0053	0.0044	0.0043	0.0052	0.0052	0.0008	0.0047	0.0026	0	0.0006	0.0023	0.0053	0.0034	0.0003	0.0040	0.0040	0.0037	0.0043	0.0102	0.0037	0.0036	0.0089	0.0084	0.0009	0.0263	0.0102	0.0029	0	0.0003	0.0034	0.0055	0.0038	0.0002	0.237	0.18823	T	0.197	0.27855	T	0.635	0.40310	P	0.07	0.27859	B	0.000034	0.55875	N	0.075995	0.668624	0.81001	D	2.125	0.59049	M	0.04	0.68030	T	-1.13	0.29114	N	0.202	0.22357	-0.8361	0.52904	T	0.142	0.46275	T	10	0.009439468	0.00213	T	0.021435	0.44208	T	0.074	0.21613	.	.	0.654164466603	0.65128	0.4188846547242236	0.41804	0.0126997293129	0.01221	0.38745701313	0.23311	T	0.117761	0.44796	T	-0.418934	0.01737	T	-0.37082	0.36793	T	0.022291232002842	0.00942	T	0.731327	0.34690	T	0.17085294	0.37685	0.13029161	0.31309	0.17085294	0.37684	0.13029161	0.31309	-3.354	0.14444	T	.	.	0.096	0.15296	B	.;.;.	.;.;.	1.918171	0.24361	16.37	0.96351445403611757	0.29516	0.91001	0.52667	D	AEFBI	0.594206	0.58923	D	0.069384772636987	0.45039	2.767205	0.158934367584728	0.47617	2.989285	0.15239994526857	0.17462	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.3	4.43	0.52967	3.535000	0.53331	3.214000	0.36817	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.1426:0.8574:0.0:0.0	15.646	0.76803	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2709.33	33	chr4	89936369	.	C	A	2709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=825;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.6;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	18	0	1	0
chr4	89953026	89953026	C	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.C3295T:p.P1099S,MMRN1:NM_001371403:exon9:c.C3295T:p.P1099S	.	434	1087	1	0	0	1	0.00045977	.	.	.	2215826	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.665	0.096538348438	0.0005	0.000199681	0.0003	0.0002	0.0002	0	0	0.0004	0.0022	0.0001	0.0002199	34	154602	rs140432017	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0007	0.0002	0	0	0	0.0014	0.0002	0.0003	0.0001	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0005	0	0	0	0	0.0005	0	0	0.027	0.46513	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	0.998132	0.44547	D	1.075	0.27130	L	-2.09	0.86077	D	-2.88	0.60507	D	0.718	0.78356	0.468	0.90092	D	0.694	0.89434	D	10	0.5907474	0.66366	D	0.096538	0.76619	D	0.665	0.87527	.	.	0.852445257037	0.85102	0.566444015663395	0.56572	0.0866157738775	0.09775	0.649027526379	0.59848	T	0.416751	0.76961	T	0.0858557	0.62719	D	0.239583	0.85129	D	0.233106791973114	0.22098	T	0.875712	0.60466	D	0.20088363	0.42079	0.21790263	0.46473	0.20088363	0.42079	0.21790263	0.46472	-5.498	0.41849	T	.	.	0.734	0.78984	P	.;.;.	.;.;.	4.502317	0.70423	25.5	0.99886575362897834	0.96126	0.93341	0.57958	D	AEFBI	0.695327	0.65403	D	0.498575977612803	0.67005	5.024498	0.479284324872278	0.66620	4.975715	0.998030571071781	0.36340	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.038000	0.63972	7.072000	0.57443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.754	0.85354	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	450.33	35	chr4	89953026	.	C	T	450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.927;DP=704;ExcessHet=0;FS=2.281;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.357;SOR=1.038	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr4	90309329	90309329	T	A	exonic	CCSER1	.	nonsynonymous SNV	CCSER1:NM_001145065:exon2:c.T1045A:p.L349I,CCSER1:NM_001377987:exon2:c.T1045A:p.L349I,CCSER1:NM_207491:exon2:c.T1045A:p.L349I	.	432	1084	5	1	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0071	0.00399361	0.0066	0.0013	0.0058	0	0.0071	0.0093	0.0056	0.0030	0.0067528	1044	154602	rs72659490	0.0091	0.0091	0.0092	0.0089	0.0107	0.0089	0.0089	0.0105	0.0104	0.0016	0.0067	0.0004	0	0.0056	0.0045	0.0107	0.0074	0.0029	0.0070	0.0071	0.0072	0.0069	0.0106	0.0067	0.0066	0.0094	0.0092	0.0021	0.0175	0.0106	0	0.0002	0.0074	0	0.0101	0.0109	0.0046	0.096	0.32296	T	0.485	0.11725	T	0.16	0.39849	B	0.033	0.38699	B	0.998735	0.07980	N	0.999489	1	0.08975	N	2.14	0.59869	M	1.43	0.46412	T	-0.35	0.12847	N	0.213	0.31590	-1.0507	0.14203	T	0.034	0.14596	T	10	0.0044575334	0.00091	T	.	.	.	0.042	0.11227	.	.	0.16115917748	0.15686	0.20811046176399295	0.20727	0.0871274837111	0.09826	0.349287062883	0.17817	T	0.008017	0.07382	T	-0.614097	0.00120	T	-0.643853	0.09391	T	0.0105239010219954	0.00146	T	0.79802	0.44234	T	0.045462437	0.07445	0.045561053	0.06158	0.045462437	0.07445	0.045561053	0.06158	-4.194	0.26780	T	.	.	0.083	0.12084	B	.;.	.;.	1.843976	0.23424	16.01	0.8753064888081018	0.17294	0.78198	0.38545	D	AEFI	0.111547	0.22082	N	-0.820837695854813	0.12778	0.6250902	-0.815703350838741	0.14115	0.7358696	2.59438768962372E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.63	0.478	0.16000	1.605000	0.36426	1.167000	0.24596	-0.255000	0.07062	0.950000	0.33075	0.983000	0.30585	0.227000	0.22653	0.1332:0.0757:0.1386:0.6525	3.550	0.07398	928	0.17405	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.025253	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1549.33	34	chr4	90309329	.	T	A	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=773;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.122;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1336	18	0	1	0
chr4	93490728	93490728	G	A	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon11:c.G1663A:p.A555T,GRID2:NM_001510:exon12:c.G1948A:p.A650T	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.361328552965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.075	0.97183	H	-0.83	0.74159	T	-3.43	0.67359	D	0.964	0.97643	0.668	0.92775	D	0.709	0.90002	D	10	0.9626421	0.95694	D	0.361329	0.92519	D	0.847	0.95249	0.859	0.95718	0.954577139301	0.95409	0.8977205853251505	0.89743	0.793729118991	0.65936	0.835392475128	0.87390	D	0.882474	0.97547	D	0.419128	0.90976	D	0.364272	0.90864	D	0.998649656772614	0.94736	D	0.950605	0.81824	D	0.7335439	0.79924	0.73871017	0.84556	0.7335439	0.79926	0.73871017	0.84557	-13.818	0.92450	D	0.5077806909397391	0.58197	0.994	0.95066	P	.;.;.	.;.;.	5.024683	0.83534	28.1	0.99928250430173726	0.99222	0.98841	0.87561	D	AEFI	0.911772	0.87149	D	0.940606345901026	0.93601	12.14927	0.834746872478943	0.92092	11.23314	0.999999859839091	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	9.564000	0.97283	11.732000	0.95017	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.0:1.0:0.0	19.110	0.93295	918	0.19598	Ionotropic glutamate receptor|Ionotropic glutamate receptor;.;Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	34	chr4	93490728	.	G	A	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.067;DP=757;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.17;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr4	93772319	93772319	G	T	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon15:c.G2560T:p.A854S,GRID2:NM_001510:exon16:c.G2845T:p.A949S	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.010252404525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.04239	T	0.439	0.13480	T	0.243	0.30970	B	0.066	0.27432	B	0.028638	0.25574	N	0.436972	0.999988	0.54805	D	-0.115	0.04602	N	2.5	0.15028	T	0.04	0.06868	N	0.376	0.55280	-0.9956	0.31136	T	0.019	0.08126	T	10	0.21594155	0.38161	T	0.010252	0.26566	T	0.209	0.49871	0.216	0.13643	0.616271326201	0.61317	0.5780626236690536	0.57735	0.240577213449	0.26601	0.66921210289	0.62726	T	0.075513	0.35195	T	-0.111883	0.34456	T	-0.398489	0.33560	T	0.882386445999146	0.53249	D	0.771723	0.40231	T	0.100420594	0.23710	0.07546783	0.16617	0.100420594	0.23710	0.07546783	0.16617	-2.686	0.07186	T	.	.	0.074	0.06341	B	.;.;.	.;.;.	4.036088	0.59715	24.1	0.98818973173277747	0.46753	0.94084	0.60064	D	AEFDBHCI	0.923591	0.90029	D	-0.149609946384278	0.35250	2.022426	0.0748316569543884	0.43287	2.633623	0.99999999989512	0.74766	0.706298	0.61202	0	0.475579	0.06741	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.52	4.68	0.58319	7.734000	0.83867	9.915000	0.82458	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0725:0.0:0.9275:0.0	13.991	0.63881	880	0.29376	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2490.33	38	chr4	93772319	.	G	T	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.369;DP=923;ExcessHet=0;FS=1.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.005;SOR=0.788	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1575	18	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.02632	2294.33	34	chr4	95841007	.	G	C	2294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=790;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.282;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr4	99208834	99208834	A	G	exonic	ADH6	.	nonsynonymous SNV	ADH6:NM_000672:exon6:c.T662C:p.I221T,ADH6:NM_001102470:exon6:c.T662C:p.I221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00579804165359	.	.	8.246e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760380675	1.095e-05	1.094e-05	1.089e-05	1.1e-05	4.474e-05	6.48e-06	5.24e-06	7.42e-06	3.88e-06	2.989e-05	4.474e-05	0	0	0	0	9.894e-06	0	2.319e-05	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000025	0.55875	N	0.151855	0.999675	0.48205	D	3.49	0.92661	M	3.23	0.06931	T	-4.87	0.81269	D	0.838	0.91968	-1.0181	0.24334	T	0.093	0.35390	T	10	0.943249	0.93650	D	0.005798	0.15072	T	0.268	0.58254	0.809	0.92581	0.455909487837	0.45213	0.907197150233145	0.90692	0.4045995921	0.41359	0.569111943245	0.48551	T	0.128291	0.45585	T	-0.0423973	0.45591	T	-0.215812	0.53139	T	0.989503026008606	0.79737	D	0.905509	0.66687	D	0.058053024	0.11632	0.08017969	0.18115	0.058053024	0.11631	0.08017969	0.18115	-11.464	0.82142	D	.	.	0.357	0.62187	A	.;.;.;.	.;.;.;.	3.481875	0.48628	22.6	0.99211357091369701	0.55594	0.94810	0.62407	D	AEFDBI	0.789785	0.71887	D	0.349565213429115	0.58718	4.045693	0.157468828996819	0.47538	2.982619	0.84191406975798	0.24883	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.71	2.05	0.25860	6.444000	0.73372	2.875000	0.35292	-0.238000	0.07553	1.000000	0.71638	0.961000	0.29326	0.084000	0.17470	0.7904:0.0:0.0768:0.1328	6.948	0.23710	725	0.54935	Alcohol dehydrogenase, C-terminal;.;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1688.33	33	chr4	99208834	.	A	G	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.942;DP=733;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=2.03;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:88,81:169:99:831,0,1131	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,72:156:99:.:.:738,0,1318:.	2	0	17	0
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	315.14	51	chr4	99347058	.	C	G	315.14	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.636;DP=1370;ExcessHet=0.3672;FS=259.16;InbreedingCoeff=-0.118;MLEAC=3;MLEAF=0.088;MQ=59.9;MQRankSum=0.561;QD=1.08;ReadPosRankSum=0.432;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0:109:20:.:.:0,20,2029:.	14	0	3	2
chr4	99347122	99347122	C	T	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G143A:p.R48H	.	422	1094	6	0	0	6	0.00273473	.	.	.	721133	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0043	0.00199681	0.0013	0.0114	0.0008	0.0001	0	0.0005	0	0	0.0012354	191	154602	rs35385902	0.0006	0.0006	0.0006	0.0005	0.0132	0.0006	0.0005	0.0122	0.0118	0.0132	0.0007	0.0002	2.521e-05	0.0001	0.0016	0.0002	0.0013	0.0001	0.0038	0.0038	0.0038	0.0037	0.0125	0.0035	0.0034	0.0116	0.0112	0.0125	0	0.0010	0.0009	0.0004	9.439e-05	0	0.0004	0.0024	0.0002	.	.	.	1.0	0.01155	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	.	.	.	-0.94	0.01278	N	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.010588706	0.00235	T	.	.	.	.	.	.	.	0.476676017676	0.47298	0.33889828639581815	0.33802	.	.	0.261800974607	0.05107	T	0.020103	0.15887	T	-0.317101	0.07137	T	-0.217882	0.52940	T	.	.	.	0.930507	0.74412	D	0.1577353	0.35526	0.15297206	0.35967	0.1577353	0.35525	0.15297206	0.35966	0.321	0.00253	T	.	.	0.114	0.28027	B	.;.;.	.;.;.	2.418932	0.31099	18.64	0.089780479653707959	0.00082	0.68716	0.33908	D	AEFI	0.538583	0.55592	D	.	.	.	.	.	.	7.40185336104525E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.8	2.95	0.33285	2.248000	0.42812	-0.205000	0.10907	0.549000	0.26987	0.975000	0.34726	0.000000	0.08366	0.491000	0.28814	0.0:0.8242:0.0:0.1758	9.954	0.40828	625	0.65529	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1958.33	51	chr4	99347122	.	C	T	1958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=912;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.45;SOR=0.546	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr4	99420561	99420561	A	G	exonic	ADH7	.	nonsynonymous SNV	ADH7:NM_000673:exon6:c.T833C:p.F278S,ADH7:NM_001166504:exon6:c.T857C:p.F286S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.027032813515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000597	0.43095	D	0.201651	1	0.81001	D	4.43	0.98752	H	2.39	0.15724	T	-7.7	0.95634	D	0.866	0.86297	-0.4580	0.70135	T	0.190	0.54213	T	10	0.9200646	0.91361	D	0.027033	0.49884	D	0.370	0.68930	0.875	0.96581	0.643794017197	0.64084	0.8039085666107554	0.80344	0.192174225506	0.21549	0.453213214874	0.32383	T	0.340093	0.70916	T	0.102164	0.64526	D	-0.0910244	0.64085	T	0.997820377349854	0.92514	D	0.79572	0.43862	T	0.9163662	0.92897	0.7679916	0.86298	0.9163662	0.92898	0.7679916	0.86299	-10.184	0.75006	D	.	.	0.983	0.91771	P	.;.;.;.	.;.;.;.	4.112850	0.61418	24.3	0.99852671684781058	0.93191	0.98779	0.86744	D	AEFI	0.555610	0.56598	D	0.591290408615812	0.72630	5.836169	0.369865711477195	0.59712	4.151541	0.948884385828511	0.27821	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.5	3.5	0.39181	4.365000	0.59259	5.652000	0.49186	0.756000	0.94297	0.862000	0.30648	1.000000	0.68203	0.941000	0.48210	1.0:0.0:0.0:0.0	12.472	0.55134	929	0.16858	Alcohol dehydrogenase, C-terminal;Alcohol dehydrogenase, C-terminal;Alcohol dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1086.33	35	chr4	99420561	.	A	G	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=847;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=2.92;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I,MTTP:NM_000253:exon6:c.G502A:p.V168I	Abetalipoproteinemia, Autosomal recessive	0	1475	46	1	0	48	0.0160107	0.7313	0.39	YES	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.017663	0.011696	0.000000	0.008621	0.018293	0.015152	0.1053	3098.41	35	chr4	99591235	.	G	A	3098.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.484;DP=728;ExcessHet=0.0101;FS=0.585;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.358;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1148	16	1	2	0
chr4	99622820	99622820	C	T	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon18:c.C2738T:p.P913L,MTTP:NM_000253:exon19:c.C2657T:p.P886L	Abetalipoproteinemia, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	296398	MTTP-related_disorder|Inborn_genetic_diseases|Abetalipoproteinaemia|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.0253768387035	0.0003	.	0.0002	9.61e-05	0.0002	0	0	0.0004	0	6.056e-05	0.0002587	40	154602	rs144600401	0.0005	0.0005	0.0006	0.0005	0.0029	0.0005	0.0005	0.0019	0.0015	0.0002	0.0003	0.0011	2.519e-05	5.616e-05	0.0029	0.0006	0.0006	8.115e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.221e-05	0	0.0003	0.0009	0	0	0.0068	0.0005	0.0005	0	0.181	0.32769	T	0.01	0.65728	D	0.026	0.19406	B	0.005	0.11217	B	0.043105	0.23772	N	0.499250	1	0.08975	N	2.52	0.73523	M	0.11	0.61208	T	-0.33	0.12472	N	0.052	0.02366	-0.9265	0.44645	T	0.161	0.49665	T	10	0.031935483	0.01335	T	0.025377	0.48351	D	0.082	0.23913	.	.	0.672909758257	0.67014	0.20884046430089293	0.20800	0.273407965456	0.29839	0.358102440834	0.19109	T	0.171644	0.51985	T	-0.459746	0.00987	T	-0.548738	0.17447	T	0.0497999919415024	0.05466	T	0.716728	0.32905	T	0.028773226	0.02268	0.04093825	0.04540	0.028773226	0.02267	0.04093825	0.04539	-4.141	0.25892	T	.	.	0.096	0.15296	B	.;.;.	.;.;.	1.995934	0.25356	16.73	0.96599254855257788	0.30402	0.30981	0.24221	N	AEFBI	0.493814	0.52987	N	-0.579392919917468	0.19571	1.025358	-0.540166097131328	0.21067	1.137951	0.99350415754891	0.33241	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	6.16	4.44	0.53164	3.405000	0.52379	2.165000	0.31010	-0.805000	0.03119	0.754000	0.29177	0.033000	0.21346	0.027000	0.12703	0.1253:0.7425:0.0:0.1321	8.268	0.30987	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1513.33	33	chr4	99622820	.	C	T	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.05;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	18	0	1	0
chr4	99650604	99650604	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G4045A:p.A1349T	.	420	1044	54	4	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00179712	0.0219	0.0018	0.0106	0	0	0.0301	0.0152	0.0205	0.0028784	445	154602	rs578237898	0.0078	0.0074	0.0072	0.0084	0.0200	0.0077	0.0076	0.0191	0.0188	0.0010	0.0018	0.0485	0.0001	0.0099	0.0153	0.0064	0.0100	0.0200	0.0074	0.0074	0.0072	0.0075	0.0149	0.0070	0.0068	0.0121	0.0111	0.0014	0.0592	0.0029	0.0430	0	0.0096	0.0034	0.0092	0.0057	0.0149	0.634	0.05091	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	-0.33	0.12472	N	0.003	0.00016	-1.0305	0.20292	T	0.024	0.10284	T	6	0.001952678	0.00027	T	.	.	.	0.021	0.04004	.	.	.	.	0.16156227208077273	0.16077	.	.	.	.	.	0.002784	0.02176	T	-0.757066	0.00016	T	-0.844654	0.01031	T	0.00761506947138638	0.00088	T	0.423058	0.11286	T	0.02955128	0.02469	0.043511447	0.05428	0.02955128	0.02468	0.043511447	0.05428	-3.841	0.21418	T	.	.	0.064	0.01645	B	.	.	-1.237357	0.00495	0.011	0.4261979673845796	0.03154	0.00836	0.03355	N	AEFBI	0.062861	0.12112	N	-1.44376705273793	0.02266	0.09988632	-1.59410947096352	0.01691	0.07681173	0.999992599705002	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.34	-8.69	0.00741	-3.446000	0.00521	-6.698000	0.01329	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.3552:0.1775:0.0:0.4673	6.006	0.18778	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2446.33	54	chr4	99650604	.	C	T	2446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=1057;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.303;SOR=0.795	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr4	99651483	99651483	C	T	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G3166A:p.G1056S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0139607097373	.	.	0.0003	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs772857804	6.503e-05	6.156e-05	5.706e-05	7.321e-05	0.0005	5.381e-05	4.98e-05	0.0001	0.0001	0	0	0	0	0	0.0005	5.747e-05	0.0002	0.0002	5.258e-05	5.253e-05	5.14e-05	5.382e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.044	0.41096	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.47	0.31987	T	0.23	0.04613	N	0.096	0.07673	-0.9942	0.31512	T	0.059	0.24797	T	6	0.050219208	0.04724	T	0.013961	0.33748	T	0.040	0.10527	0.213	0.13210	0.112648838833	0.10856	0.0899372765184886	0.08926	.	.	.	.	.	0.007929	0.07302	T	-0.567349	0.00230	T	-0.749605	0.03501	T	0.0164062949429188	0.00407	T	0.523348	0.17107	T	0.056187827	0.11020	0.06868307	0.14374	0.056187827	0.11020	0.06868307	0.14374	-2.944	0.09590	T	.	.	0.075	0.05623	B	.	.	1.360872	0.17698	13.32	0.99568397444140799	0.72258	0.06078	0.12051	N	AEFDBI	0.270893	0.38686	N	-0.551027798394151	0.20452	1.07821	-0.675534897025946	0.17573	0.935021	0.998772326819289	0.37645	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	1.4	0.21393	-0.418000	0.07144	-0.727000	0.07679	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.411000	0.27028	0.1441:0.6043:0.0:0.2516	5.293	0.15047	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2841.33	54	chr4	99651483	.	C	T	2841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=1078;ExcessHet=0;FS=1.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.925;SOR=0.886	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr4	99651992	99651992	C	A	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2657T:p.G886V	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0103526998085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	1.368e-06	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.25	0.36512	T	-0.09	0.08340	N	0.186	0.20262	-1.0090	0.27230	T	0.054	0.22808	T	6	0.09241286	0.16271	T	0.010353	0.26785	T	0.053	0.14996	0.157	0.06070	0.465381546717	0.46164	0.1265805945798365	0.12584	.	.	.	.	.	0.011779	0.10457	T	-0.287585	0.09881	T	-0.650873	0.08894	T	0.0761748402959507	0.09491	T	0.540346	0.18307	T	0.048358068	0.08416	0.047723953	0.06937	0.048358068	0.08416	0.047723953	0.06937	-4.796	0.34545	T	.	.	0.115	0.22969	B	.	.	1.097288	0.14815	11.35	0.93752989225717009	0.23695	0.20477	0.21055	N	AEFDBI	0.253940	0.37335	N	-0.604851585710634	0.18798	0.9788265	-0.71781226788809	0.16518	0.8741418	0.975321200609403	0.29623	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.27	1.42	0.21524	-0.244000	0.08921	0.508000	0.19055	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.0:0.4677:0.3478:0.1844	4.980	0.13506	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1173.33	54	chr4	99651992	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=1006;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.6;SOR=1.026	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1187,0,1413	18	0	1	0
chr4	99652146	99652146	T	C	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.A2503G:p.M835V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00934335794148	.	.	0.0011	0	0	0	0	0	0	0.0017	8.41e-05	13	154602	rs759124229	4.553e-05	4.309e-05	2.425e-05	6.737e-05	0.0007	3.637e-05	3.305e-05	0.0006	0.0005	0	0	0	0	0	0.0002	1.854e-06	1.727e-05	0.0007	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.048	0.40068	D	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.69	0.27032	T	0.1	0.05810	N	0.045	0.01740	-1.0312	0.20066	T	0.034	0.14683	T	6	0.01891756	0.00416	T	0.009343	0.24506	T	0.027	0.05988	0.113	0.02240	0.136095386433	0.13204	0.07390835701561081	0.07327	.	.	.	.	.	0.002508	0.01894	T	-0.652562	0.00070	T	-0.760577	0.03092	T	0.0433721783229063	0.04306	T	0.125387	0.00975	T	0.20455676	0.42569	0.23408504	0.48615	0.20455676	0.42569	0.23408504	0.48614	-1.916	0.02879	T	.	.	0.072	0.04238	B	.	.	1.015202	0.13947	10.51	0.75271915522262756	0.11011	0.38875	0.26086	N	AEFDBI	0.222643	0.34710	N	-0.393204468747564	0.25709	1.397712	-0.412756909742529	0.24623	1.349354	0.979980424488552	0.30085	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.47	1.85	0.24418	0.619000	0.24083	1.303000	0.25487	0.665000	0.62972	0.236000	0.24706	0.999000	0.35428	0.380000	0.26335	0.1445:0.0845:0.0:0.771	6.860	0.23241	926	0.17793	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1333.33	54	chr4	99652146	.	T	C	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=1127;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=0.648;SOR=0.967	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr4	99946507	99946507	C	T	exonic	DNAJB14	.	nonsynonymous SNV	DNAJB14:NM_001031723:exon1:c.G65A:p.G22D,DNAJB14:NM_001278311:exon1:c.G65A:p.G22D	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.538931211126	.	.	8.371e-06	0	0	0	0	0	0	6.13e-05	6.5e-06	1	154602	rs747154758	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.957e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.068	0.35726	T	0.049	0.48336	D	0.997	0.70673	D	0.91	0.64641	D	0.000009	0.62929	D	0.065716	0.999997	0.58761	D	.	.	.	-0.34	0.68474	T	-3.37	0.66665	D	0.34	0.53006	0.126	0.84646	D	0.510	0.81608	D	10	0.46442628	0.59482	T	0.538931	0.95697	D	0.400	0.71401	0.474	0.55020	0.473786764527	0.47009	0.8692266349543613	0.86887	1.59919968995	0.88670	0.838611125946	0.87883	D	0.200407	0.55798	T	-0.118356	0.33393	T	-0.226259	0.52132	T	0.987681925296783	0.78133	D	0.762324	0.44736	T	0.74396944	0.80520	0.76570076	0.86161	0.74396944	0.80522	0.76570076	0.86162	-7.014	0.54136	T	.	.	0.875	0.89556	P	.;.	.;.	4.264297	0.64833	24.8	0.99822050112249894	0.90502	0.53691	0.29433	D	ALL	0.551180	0.56336	D	0.553203827282038	0.70279	5.47807	0.439178142134743	0.64024	4.648509	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.7	3.7	0.41607	2.216000	0.42511	6.897000	0.56859	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.029	0.80365	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	33	chr4	99946507	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=748;ExcessHet=0;FS=1.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.005;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr4	100189895	100189895	C	T	exonic	DDIT4L	.	nonsynonymous SNV	DDIT4L:NM_145244:exon2:c.G89A:p.S30N	.	.	.	.	.	.	.	.	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00233408938224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06935	T	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	0.015925	0.28113	N	0.378995	0.973828	0.25525	N	-1.355	0.00654	N	0.96	0.42888	T	-0.58	0.17417	N	0.079	0.05414	-1.0411	0.16981	T	0.032	0.13811	T	10	0.06280911	0.08088	T	0.002334	0.04507	T	0.056	0.15993	0.379	0.39482	0.259272394797	0.25527	0.12480316716165732	0.12406	0.0271791063544	0.02775	0.383204579353	0.22710	T	0.007647	0.07043	T	-0.356961	0.04305	T	-0.750526	0.03465	T	0.197885617613792	0.20298	T	0.569643	0.20265	T	0.043557044	0.06808	0.047739666	0.06941	0.043557044	0.06808	0.047739666	0.06940	-4.093	0.25187	T	.	.	0.062	0.01512	B	.;.;.	.;.;.	1.655822	0.21119	15.06	0.82727913258902963	0.14343	0.13390	0.17829	N	AEFDBCI	0.046201	0.07644	N	-0.663555998014116	0.17066	0.8750554	-0.481866937319825	0.22652	1.23149	0.999609441028911	0.40866	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.41	1.34	0.21018	0.110000	0.15273	0.612000	0.20040	0.599000	0.40250	0.990000	0.36992	0.224000	0.23735	0.873000	0.41610	0.0:0.38:0.3472:0.2728	3.971	0.08945	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	33	chr4	100189895	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.63;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.268;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1328	18	0	1	0
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S,PPP3CA:NM_001130691:exon2:c.G165C:p.R55S,PPP3CA:NM_001130692:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	96.56	33	chr4	101196010	.	C	G	96.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-5.87;DP=1486;ExcessHet=0;FS=161.508;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.536;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1561:.	16	0	1	2
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	577.3	184	chr4	101196011	.	C	G	577.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.731;DP=2361;ExcessHet=0.7564;FS=238.355;InbreedingCoeff=-0.3579;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.57;SOR=10.97	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:152,0:152:0:.:.:0,0,3022:.	3	0	4	12
chr4	101895362	101895362	T	C	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon5:c.T562C:p.Y188H,BANK1:NM_001083907:exon6:c.T871C:p.Y291H,BANK1:NM_017935:exon6:c.T961C:p.Y321H	.	460	1060	1	1	0	3	0.00141309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00400466154341	.	0.000199681	0.0002	0	8.857e-05	0	0	0	0	0.0016	0.0001811	28	154602	rs529593590	0.0001	0.0001	6.616e-05	0.0002	0.0017	9.994e-05	9.396e-05	0.0015	0.0014	3.126e-05	2.367e-05	0	0	0	0.0004	8.159e-06	0.0002	0.0017	4.603e-05	4.593e-05	3.861e-05	5.38e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.948e-05	0	0.0010	0.144	0.32610	T	0.418	0.14771	T	0.004	0.61523	B	0.004	0.73562	B	0.251524	0.15499	N	0.592684	0.98971	0.24263	N	0.69	0.16971	N	3.0	0.16640	T	-1.99	0.47683	N	0.245	0.27673	-1.0307	0.20227	T	0.043	0.18701	T	10	0.03188449	0.01330	T	0.004005	0.09493	T	0.099	0.28413	0.531	0.63855	0.413503789086	0.40968	0.33570930040308095	0.33483	0.0241291910936	0.02450	0.355100005865	0.18671	T	0.096975	0.39933	T	-0.551202	0.00287	T	-0.594619	0.13268	T	0.0949802885746516	0.11796	T	0.734627	0.35895	T	0.0831186	0.19180	0.083685994	0.19197	0.0831186	0.19179	0.083685994	0.19197	-1.135	0.02127	T	.	.	0.119	0.25166	B	.;.;.;.;.	.;.;.;.;.	1.082625	0.14659	11.21	0.99648853918859681	0.77130	0.21141	0.21296	N	AEFGI	0.102444	0.20550	N	-0.429654518349948	0.24435	1.319351	-0.349112125832392	0.26537	1.466393	7.57746817477607E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.94	0.845	0.18089	-0.963000	0.03947	-0.249000	0.10523	0.609000	0.47794	0.773000	0.29391	0.000000	0.08366	0.966000	0.53164	0.1629:0.1916:0.0:0.6455	3.752	0.08094	934	0.15400	.;DBB domain|DBB domain|DBB domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4454.81	35	chr4	101895362	.	T	C	4454.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.7;SOR=0.834	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	18	1	0	0
chr4	102596266	102596266	G	T	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon13:c.G1387T:p.V463F,NFKB1:NM_001165412:exon14:c.G1426T:p.V476F,NFKB1:NM_001319226:exon14:c.G1426T:p.V476F,NFKB1:NM_003998:exon14:c.G1429T:p.V477F,NFKB1:NM_001382625:exon15:c.G1429T:p.V477F,NFKB1:NM_001382626:exon15:c.G1429T:p.V477F,NFKB1:NM_001382627:exon15:c.G1426T:p.V476F	Immunodeficiency, common variable, 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	709094	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00684638188584	0.0006	0.00119808	0.0002	0.0020	0.0002	0	0	0	0	0	0.000194	30	154602	rs56147914	6.022e-05	6.02e-05	6.4e-05	5.64e-05	0.0020	4.963e-05	4.628e-05	0.0016	0.0015	0.0020	0.0002	0	0	0	0.0002	8.996e-07	0.0002	0	0.0007	0.0007	0.0007	0.0006	0.0022	0.0006	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0.0005	0	0.066	0.36113	T	0.058	0.46182	T	0.041	0.30696	B	0.005	0.27432	B	0.000147	0.00484	N	4.229120	1	0.08975	N	0	0.06538	N	1.22	0.37405	T	-0.54	0.16598	N	0.14	0.15609	-1.0585	0.12134	T	0.044	0.18989	T	10	0.0061025023	0.00137	T	0.006846	0.18093	T	0.009	0.00846	.	.	0.215239754934	0.21150	0.25234036665048754	0.25148	0.520469550833	0.49844	0.220669910312	0.01349	T	0.183831	0.53630	T	-0.625102	0.00102	T	-0.67593	0.07234	T	0.00365493877995755	0.00039	T	0.311569	0.06072	T	0.03093508	0.02843	0.05082034	0.08053	0.03093508	0.02842	0.05082034	0.08052	-4.595	0.32184	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	-1.004989	0.00764	0.024	0.93111688192272379	0.22744	0.01617	0.05229	N	AEFBI	0.046760	0.07800	N	-1.41316640865936	0.02522	0.1114974	-1.50340316598381	0.02318	0.1064126	0.999691247404191	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	2.18	-2.36	0.06282	-1.013000	0.03755	-0.894000	0.07016	-0.890000	0.02392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.1981:0.3927:0.0	3.549	0.07393	957	0.09725	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	714.33	33	chr4	102596266	.	G	T	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=685;ExcessHet=0;FS=3.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.377;SOR=0.975	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1032	18	0	1	0
chr4	102607660	102607660	T	G	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon18:c.T2094G:p.H698Q,NFKB1:NM_001165412:exon19:c.T2133G:p.H711Q,NFKB1:NM_001319226:exon19:c.T2133G:p.H711Q,NFKB1:NM_003998:exon19:c.T2136G:p.H712Q,NFKB1:NM_001382625:exon20:c.T2136G:p.H712Q,NFKB1:NM_001382626:exon20:c.T2136G:p.H712Q,NFKB1:NM_001382627:exon20:c.T2133G:p.H711Q	Immunodeficiency, common variable, 12, Autosomal dominant	423	1098	1	0	0	1	0.000455166	.	.	YES	709096	Immunodeficiency,_common_variable,_12|not_provided	MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0062	0.00858626	0.0021	0.0236	0.0007	0	0	2.999e-05	0.0022	0	0.0021151	327	154602	rs4648099	0.0008	0.0008	0.0009	0.0007	0.0282	0.0007	0.0007	0.0267	0.0261	0.0282	0.0011	0	0	0	0.0010	2.158e-05	0.0018	5.797e-05	0.0078	0.0078	0.0074	0.0082	0.0276	0.0074	0.0073	0.0263	0.0257	0.0276	0	0.0019	0	0	0	0.0034	7.352e-05	0.0033	0	0.08	0.34982	T	0.065	0.44702	T	0.103	0.25884	B	0.088	0.29688	B	0.447373	0.04795	N	1.316220	0.999916	0.19599	N	0.55	0.14455	N	1.36	0.34452	T	-0.55	0.16799	N	0.101	0.11626	-0.9561	0.39898	T	0.021	0.08732	T	10	0.0038932562	0.00074	T	.	.	.	0.028	0.06331	0.257	0.19845	0.34707237187	0.34319	0.4842123765629883	0.48341	0.38900953364	0.40154	0.439216017723	0.30470	T	0.087522	0.37960	T	-0.701033	0.00036	T	-0.758812	0.03155	T	0.00628443959569375	0.00070	T	0.59884	0.23898	T	0.03883307	0.05250	0.059455123	0.11160	0.037986323	0.04973	0.048480406	0.07208	-6.505	0.50325	T	0.1422731500679324	0.16075	0.100	0.22680	B	.;.;.;.	.;.;.;.	-0.719468	0.01277	0.067	0.92596675252017435	0.22059	0.10083	0.15686	N	AEFBCI	0.090496	0.18338	N	-1.22076150606229	0.04699	0.2126587	-1.23400900713409	0.05372	0.2557936	0.999996139636681	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.15	-6.39	0.01778	-2.525000	0.01024	-12.827000	0.00498	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.4766:0.0993:0.4241	9.698	0.39335	958	0.09170	.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1923.33	34	chr4	102607660	.	T	G	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.923;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.625;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr4	103057848	103057848	A	C	exonic	SLC9B2	.	nonsynonymous SNV	SLC9B2:NM_001370199:exon4:c.T395G:p.L132W,SLC9B2:NM_001370200:exon4:c.T395G:p.L132W,SLC9B2:NM_001370201:exon4:c.T395G:p.L132W,SLC9B2:NM_001370202:exon4:c.T395G:p.L132W,SLC9B2:NM_001370206:exon4:c.T395G:p.L132W,SLC9B2:NM_001370207:exon4:c.T395G:p.L132W,SLC9B2:NM_178833:exon4:c.T395G:p.L132W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0189161819818	0.0012	0.00199681	0.0003	0.0033	0.0002	0	0	1.499e-05	0	0	0.0003234	50	154602	rs146049580	9.237e-05	9.235e-05	0.0001	7.702e-05	0.0033	7.959e-05	7.433e-05	0.0028	0.0026	0.0033	0.0002	0	0	0	0	0	0.0002	0	0.0012	0.0012	0.0012	0.0011	0.0042	0.0010	0.0010	0.0037	0.0035	0.0042	0	6.537e-05	0	0	0	0	1.47e-05	0.0005	0	0.002	0.72154	D	0.005	0.79402	D	0.99	0.63424	D	0.733	0.55393	P	0.323916	0.14225	N	0.666661	1	0.81001	D	1.845	0.48678	L	1.73	0.26445	T	-3.11	0.74348	D	0.451	0.48872	-1.0155	0.25175	T	0.088	0.33885	T	10	0.008840948	0.00200	T	0.018916	0.41136	T	0.326	0.64826	.	.	0.48748946032	0.48381	0.8954046553753181	0.89511	0.159916185022	0.18041	0.288559615612	0.08713	T	0.235626	0.60292	T	-0.367857	0.03703	T	-0.300911	0.44628	T	0.101716950321856	0.12544	T	0.933907	0.75239	D	0.42891264	0.62681	0.5899113	0.76207	0.42891264	0.62681	0.5899113	0.76208	-11.865	0.84187	D	.	.	0.176	0.58120	B	.;.;.;.	.;.;.;.	4.455560	0.69304	25.4	0.95495762607619117	0.27077	0.95913	0.66695	D	AEFI	0.832558	0.75091	D	0.39440950601777	0.61118	4.308794	0.297829354982381	0.55412	3.704317	0.999990977883262	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	8.371000	0.90020	10.729000	0.83637	0.691000	0.84096	0.999000	0.42656	0.995000	0.32472	0.702000	0.34203	1.0:0.0:0.0:0.0	15.422	0.74743	915	0.20917	Cation/H+ exchanger;Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	33	chr4	103057848	.	A	C	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=723;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.586;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	18	0	1	0
chr4	103066356	103066356	T	C	exonic	SLC9B2	.	nonsynonymous SNV	SLC9B2:NM_001300754:exon3:c.A242G:p.H81R,SLC9B2:NM_001300756:exon3:c.A242G:p.H81R,SLC9B2:NM_001370199:exon3:c.A242G:p.H81R,SLC9B2:NM_001370200:exon3:c.A242G:p.H81R,SLC9B2:NM_001370201:exon3:c.A242G:p.H81R,SLC9B2:NM_001370202:exon3:c.A242G:p.H81R,SLC9B2:NM_001370203:exon3:c.A242G:p.H81R,SLC9B2:NM_001370204:exon3:c.A242G:p.H81R,SLC9B2:NM_001370205:exon3:c.A242G:p.H81R,SLC9B2:NM_001370206:exon3:c.A242G:p.H81R,SLC9B2:NM_001370207:exon3:c.A242G:p.H81R,SLC9B2:NM_178833:exon3:c.A242G:p.H81R	.	436	1085	1	0	0	1	0.000460617	.	.	.	2262054	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0047687462991	.	.	4.121e-05	0	0	0	0.0002	1.499e-05	0.0011	0.0001	3.23e-05	5	154602	rs200766604	3.079e-05	3.078e-05	2.314e-05	3.851e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	0	0	0	0	0	0	1.529e-05	3.312e-05	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	9.411e-05	0	0	0	0.0002	1.0	0.02581	T	1.0	0.02336	T	0.0	0.02946	B	0.001	0.04355	B	0.423655	0.12838	N	0.695480	1	0.08975	N	0.185	0.09099	N	1.98	0.23884	T	-0.86	0.23372	N	0.154	0.20925	-0.9677	0.37673	T	0.024	0.10284	T	10	0.041511536	0.02813	T	0.004769	0.11910	T	0.106	0.30130	0.574	0.69826	0.0138822411134	0.00435	0.3262255057019932	0.32535	0.0197064282683	0.01935	0.279681921005	0.07448	T	0.08742	0.37938	T	-0.542315	0.00325	T	-0.737339	0.04004	T	0.00842510729797714	0.00102	T	0.681032	0.28992	T	0.023225108	0.01044	0.050841182	0.08060	0.023225108	0.01044	0.050841182	0.08059	-5.583	0.42637	T	.	.	0.054	0.01577	B	.;.;.;.;.	.;.;.;.;.	0.255365	0.06345	2.805	0.52032298705829227	0.04672	0.27514	0.23299	N	AEFBI	0.045398	0.07421	N	-1.31125786433744	0.03545	0.15856	-1.29308935346557	0.04523	0.2135455	0.997654046790871	0.35867	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.06	-6.62	0.01646	0.168000	0.16438	-3.774000	0.02546	-0.194000	0.09177	0.970000	0.34288	0.000000	0.08366	0.977000	0.56843	0.0:0.5419:0.0:0.4581	11.696	0.50810	922	0.19044	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	33	chr4	103066356	.	T	C	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.282;DP=692;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.064;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	18	0	1	0
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.05263	2223.83	110	chr4	103123040	.	G	C	2223.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.29;DP=778;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.432;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	17	0	2	0
chr4	103149276	103149276	T	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon26:c.A3454T:p.M1152L,CENPE:NM_001813:exon27:c.A3529T:p.M1177L	.	.	.	.	.	.	.	.	.	.	.	709110	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0082	0.0091853	0.0023	0.0248	0.0010	0	0	0.0002	0	6.058e-05	0.0022574	349	154602	rs35975325	0.0009	0.0009	0.0010	0.0008	0.0235	0.0009	0.0009	0.0221	0.0216	0.0235	0.0015	0	0	0	0.0014	0.0003	0.0021	2.323e-05	0.0070	0.0070	0.0070	0.0070	0.0239	0.0067	0.0065	0.0226	0.0222	0.0239	0	0.0034	0	0	0	0.0034	0.0002	0.0057	0	0.564	0.25154	T	0.321	0.30339	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-0.33	0.68329	T	-0.37	0.13226	N	0.253	0.28616	-0.9630	0.38606	T	0.053	0.22307	T	9	0.002600491	0.00040	T	.	.	.	0.066	0.19193	0.115	0.02372	0.41767021734	0.41382	0.07787061413553172	0.07723	0.0370009060736	0.03923	0.255382537842	0.04355	T	0.036287	0.24046	T	-0.617097	0.00115	T	-0.639597	0.09699	T	0.00407801395287183	0.00043	T	0.414759	0.10842	T	0.027731422	0.02008	0.05482394	0.09501	0.028246472	0.02134	0.06206025	0.12083	-2.948	0.11250	T	0.17469170112005036	0.22200	0.108	0.23848	B	.;.;.	.;.;.	-1.848848	0.00141	0.002	0.59249909711060889	0.06180	0.08420	0.14351	N	AEFBHCI	0.061545	0.11774	N	-1.61419717599521	0.01195	0.05195815	-1.70400137286803	0.01120	0.05033725	0.999723791746667	0.42220	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.0	-5.43	0.02426	-2.740000	0.00869	-10.314000	0.00715	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.5932:0.1256:0.2812	10.245	0.42516	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1291.33	34	chr4	103149276	.	T	A	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=741;ExcessHet=0;FS=7.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.1;SOR=0.296	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr4	104491304	104491304	-	GCTGCCGCC	exonic	CXXC4	.	nonframeshift insertion	CXXC4:NM_025212:exon2:c.498_499insGGCGGCAGC:p.S166_R167insGGS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.989e-07	6.841e-07	0	1.406e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.702e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	541.29	42	chr4	104491304	.	T	TGCTGCCGCC	541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=0.764;SOR=0.77	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr4	106171171	106171171	G	A	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon21:c.C1970T:p.S657F,TBCK:NM_001163435:exon23:c.C2159T:p.S720F,TBCK:NM_001163436:exon23:c.C2159T:p.S720F,TBCK:NM_001163437:exon23:c.C2042T:p.S681F,TBCK:NM_001290768:exon24:c.C1643T:p.S548F	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	428	1089	5	0	0	5	0.00229043	.	.	YES	903530	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3|not_provided	MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.0240659459662	7.7e-05	0.000199681	5.777e-05	9.61e-05	8.732e-05	0	0	1.5e-05	0	0.0002	5.17e-05	8	154602	rs370050799	2.807e-05	2.805e-05	2.18e-05	3.441e-05	0.0005	2.088e-05	1.88e-05	0.0002	0.0002	0	2.245e-05	0	0	0	0.0005	8.997e-06	4.973e-05	0.0003	4.599e-05	4.594e-05	6.429e-05	2.687e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.942e-05	0	0.0010	0.053	0.39097	T	0.158	0.31936	T	0.006	0.32870	B	0.024	0.30579	B	0.712252	0.10003	N	0.886538	1	0.08975	N	0.55	0.14455	N	-0.21	0.67011	T	-0.71	0.22294	N	0.234	0.26354	-0.9590	0.39368	T	0.139	0.45734	T	10	0.040279508	0.02584	T	0.024066	0.47052	T	0.111	0.31313	.	.	0.732106347842	0.72972	0.2166218010954197	0.21578	0.088428659937	0.09995	0.338088333607	0.16151	T	0.004825	0.04238	T	-0.3287	0.06211	T	-0.409607	0.32270	T	0.0208902675658464	0.00790	T	0.368563	0.08641	T	0.045918338	0.07598	0.07246291	0.15636	0.045918338	0.07597	0.07246291	0.15636	-6.146	0.49657	T	0.21341008423495667	0.28655	0.082	0.08802	B	.;.;.;.;.	.;.;.;.;.	2.581986	0.33479	19.35	0.95179950509414413	0.26348	0.43406	0.27091	N	AEFBI	0.170887	0.29782	N	-0.516965887911949	0.21532	1.143365	-0.440169544942217	0.23829	1.301541	0.0174988504366685	0.12957	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.99	3.16	0.35406	2.815000	0.47717	2.470000	0.32893	0.618000	0.50648	0.522000	0.27127	0.064000	0.22093	0.987000	0.62547	0.0829:0.1533:0.605:0.1588	4.683	0.12129	517	0.74620	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3004.83	33	chr4	106171171	.	G	A	3004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=811;ExcessHet=0.119;FS=0.502;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.495;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	17	0	2	0
chr4	106328162	106328162	A	G	exonic	AIMP1	.	nonsynonymous SNV	AIMP1:NM_001142415:exon4:c.A310G:p.T104A,AIMP1:NM_001142416:exon4:c.A310G:p.T104A,AIMP1:NM_004757:exon4:c.A310G:p.T104A	Leukodystrophy, hypomyelinating, 3, Autosomal recessive	7	1514	1	0	0	1	0.000330142	.	.	.	439307	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.022	.	0.0110	0.0121805	0.0032	0.0354	0.0014	0	0	6.066e-05	0	6.095e-05	0.0030465	471	154602	rs113844295	0.0011	0.0011	0.0012	0.0009	0.0376	0.0010	0.0010	0.0358	0.0351	0.0376	0.0015	0	0	0	0.0028	3.508e-05	0.0026	0.0001	0.0097	0.0097	0.0100	0.0095	0.0340	0.0093	0.0092	0.0326	0.0320	0.0340	0	0.0026	0	0	0	0	0.0002	0.0066	0.0004	0.379	0.11227	T	1.0	0.03030	T	0.0	0.02946	B	0.001	0.04355	B	0.425704	0.12814	N	0.762528	1	0.08975	N	-0.02	0.05091	N	2.05	0.21119	T	-0.25	0.11008	N	0.055	0.02759	-0.9720	0.36776	T	0.006	0.01907	T	10	0.0024947822	0.00038	T	.	.	.	0.022	0.04323	.	.	0.0401082797425	0.02173	0.1285873372638987	0.12783	0.0248716413028	0.02533	0.27451479435	0.06739	T	0.008752	0.26014	T	-0.729801	0.00024	T	-0.796018	0.02004	T	0.000475777288470271	0.00004	T	0.271373	0.04588	T	0.017087849	0.00245	0.018542936	0.00059	0.020519927	0.00612	0.019943664	0.00111	-3.166	0.12070	T	.	.	0.06	0.00934	B	.;.;.;.	.;.;.;.	-0.927935	0.00880	0.032	0.25620170229873063	0.01190	0.01568	0.05122	N	AEFGBI	0.027580	0.02279	N	-1.65915286384923	0.00997	0.04322054	-1.69939839960999	0.01140	0.05126424	0.999985977278189	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.64	-3.82	0.04000	-0.564000	0.06027	-0.187000	0.11075	-0.058000	0.16670	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.3289:0.0:0.4308:0.2402	5.303	0.15097	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.010101	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.02632	1360.33	35	chr4	106328162	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=762;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.58;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	106925831	106925831	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G341A:p.G114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0291245027067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.021	0.63918	D	0.951	0.53992	P	0.735	0.55480	P	0.000005	0.62929	D	0.107028	0.994	0.42059	D	1.7	0.43825	L	0.85	0.48142	T	-1.85	0.43334	N	0.685	0.69913	-0.7097	0.59967	T	0.248	0.61681	T	10	0.61480206	0.67645	D	0.029125	0.51692	D	0.154	0.40340	0.678	0.81594	0.264728329957	0.26087	0.8653075087143794	0.86495	1.22684531646	0.81226	0.752565979958	0.74825	T	0.442734	0.78679	T	-0.0546003	0.43745	T	-0.316206	0.42988	T	0.972929537296295	0.69890	D	0.886311	0.70760	D	0.37360525	0.58850	0.5223394	0.72403	0.37360525	0.58851	0.5223394	0.72404	-7.397	0.56883	T	.	.	0.367	0.59672	A	.;.;.	.;.;.	4.655487	0.74259	26.1	0.99823967070247299	0.90677	0.91016	0.52696	D	AEFBI	0.580056	0.58062	D	0.550661877863298	0.70121	5.455422	0.576481034080092	0.73257	5.941059	0.0968722313810203	0.16265	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	3.206000	0.50800	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	237.33	33	chr4	106925831	.	C	T	237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.751;DP=796;ExcessHet=0;FS=69.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.624;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1265:.	18	0	1	0
chr4	106925832	106925832	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G340A:p.G114S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0128117469006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.736e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.211	0.26631	T	0.43	0.35583	B	0.182	0.35926	B	0.000005	0.62929	D	0.107028	0.983825	0.40064	D	0.385	0.12166	N	1.0	0.42502	T	0.11	0.05706	N	0.394	0.43514	-1.0438	0.16177	T	0.127	0.43277	T	10	0.35083738	0.51947	T	0.012812	0.31705	T	0.118	0.32913	0.478	0.55663	0.244449712813	0.24043	0.7762054454360905	0.77570	1.06429463323	0.76581	0.629008471966	0.57004	T	0.204767	0.56362	T	-0.183324	0.23242	T	-0.501108	0.22233	T	0.944571077823639	0.62088	D	0.874113	0.62218	D	0.13693072	0.31725	0.19670437	0.43414	0.13693072	0.31725	0.19670437	0.43413	-2.414	0.05219	T	.	.	0.062	0.02765	B	.;.;.	.;.;.	3.818082	0.55117	23.6	0.99853102462042453	0.93191	0.91327	0.53310	D	AEFBI	0.511669	0.54020	D	0.171727963477029	0.49844	3.180471	0.28848329974208	0.54864	3.650462	0.106605283266664	0.16534	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	2.352000	0.43735	7.597000	0.61435	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	237.33	33	chr4	106925832	.	C	T	237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.226;DP=933;ExcessHet=0;FS=69.862;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.707;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1265:.	18	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:90,34:124:99:220,0,1832	5	0	12	2
chr4	107908640	107908640	T	G	exonic	SGMS2	.	nonsynonymous SNV	SGMS2:NM_001136257:exon5:c.T803G:p.V268G,SGMS2:NM_001375911:exon5:c.T284G:p.V95G,SGMS2:NM_152621:exon5:c.T803G:p.V268G,SGMS2:NM_001136258:exon6:c.T803G:p.V268G,SGMS2:NM_001375905:exon6:c.T803G:p.V268G,SGMS2:NM_001375907:exon6:c.T803G:p.V268G,SGMS2:NM_001375908:exon6:c.T803G:p.V268G,SGMS2:NM_001375906:exon7:c.T803G:p.V268G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.094327977341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.993	0.65571	D	0.871	0.61869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.87	0.76948	T	-3.71	0.70674	D	0.605	0.62273	-0.0127	0.81992	T	0.494	0.80825	T	10	0.83113337	0.82276	D	0.094328	0.76233	D	0.637	0.86130	0.621	0.75576	0.857650482772	0.85627	0.8900116153167285	0.88971	1.28053249883	0.82507	0.6249319911	0.56426	T	0.628608	0.88460	D	0.385461	0.89057	D	0.315912	0.88920	D	0.996290564537048	0.89052	D	0.89971	0.64861	D	0.72410876	0.79391	0.7692414	0.86374	0.72410876	0.79393	0.7692414	0.86374	-9.176	0.68823	D	0.496112216037497	0.57211	0.312	0.61822	B	.;.;.;.	.;.;.;.	4.403930	0.68072	25.2	0.99730579587812529	0.82761	0.92781	0.56530	D	AEFDBHCI	0.953260	0.96940	D	0.626584645039792	0.74862	6.205214	0.640698850670239	0.77921	6.77312	0.999996162036779	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.590023	0.30420	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	7.608000	0.82114	5.019000	0.46730	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.468	0.75146	915	0.20917	Sphingomyelin synthase-like domain;Sphingomyelin synthase-like domain;Sphingomyelin synthase-like domain;Sphingomyelin synthase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.36	61	chr4	107908640	.	T	G	53.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.611;DP=843;ExcessHet=0;FS=103.359;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=-0.046;SOR=5.416	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1394	18	0	1	0
chr4	108165124	108165124	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon2:c.G253A:p.D85N,LEF1:NM_001130714:exon2:c.G253A:p.D85N,LEF1:NM_001166119:exon2:c.G49A:p.D17N,LEF1:NM_016269:exon2:c.G253A:p.D85N	Sebaceous tumors, somatic (3)	432	1045	42	3	0	48	0.0224509	.	.	.	698331	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.486	.	0.0052	0.00579073	0.0084	0.0018	0.0110	0.0021	0.0103	0.0077	0.0066	0.0161	0.00815	1260	154602	rs61752607	0.0086	0.0086	0.0084	0.0087	0.0167	0.0085	0.0084	0.0160	0.0157	0.0018	0.0098	0.0014	0.0070	0.0095	0.0099	0.0083	0.0085	0.0167	0.0062	0.0063	0.0065	0.0059	0.0123	0.0059	0.0058	0.0098	0.0089	0.0018	0.0121	0.0088	0.0006	0.0027	0.0087	0.0068	0.0079	0.0104	0.0123	0.301	0.78490	T	0.258	0.64786	T	0.165	0.49442	B	0.028	0.37187	B	0.000000	0.84330	D	0.049443	0.994903	0.43008	D	1.385	0.34509	L	-5.56	0.99392	D	-2.18	0.55662	N	0.536	0.61002	0.801	0.94421	D	0.883	0.96129	D	10	0.010001779	0.00224	T	.	.	.	0.486	0.77464	.	.	0.802756854265	0.80091	0.26479490399013794	0.26392	0.279026521573	0.30382	0.602982640266	0.53325	T	0.495556	0.81823	T	-0.262121	0.12654	T	-0.136322	0.60436	T	0.0226908288392035	0.00987	T	0.981302	0.95706	D	0.21579985	0.44022	0.3188588	0.57851	0.21579985	0.44022	0.3188588	0.57850	-4.164	0.31356	T	.	.	0.104	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	4.467721	0.69589	25.4	0.99902625920476185	0.97426	0.97734	0.76747	D	AEFDBI	0.791559	0.72011	D	0.268939013737371	0.54580	3.623	0.409850153705389	0.62176	4.428918	0.999999999997982	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.399000	0.66059	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.069	0.97712	943	0.12886	CTNNB1 binding, N-teminal;.;.;.;CTNNB1 binding, N-teminal;CTNNB1 binding, N-teminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.010101	0.012228	0.008824	0.050000	0.017241	0.006098	0.015152	0.02632	967.33	34	chr4	108165124	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.335;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	18	0	1	0
chr4	109433883	109433883	C	A	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon1:c.C14A:p.A5D,SEC24B:NM_001300813:exon1:c.C14A:p.A5D,SEC24B:NM_001318085:exon1:c.C14A:p.A5D,SEC24B:NM_001318086:exon1:c.C14A:p.A5D,SEC24B:NM_006323:exon1:c.C14A:p.A5D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.922422717922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.121	0.38160	T	0.632	0.40232	P	0.057	0.26280	B	.	.	.	.	0.906617	0.29771	N	0.895	0.22405	L	-2.07	0.85943	D	-0.52	0.16187	N	0.261	0.29544	-0.5074	0.68381	T	0.294	0.66526	T	9	0.23167348	0.40145	T	0.922423	0.99430	D	0.327	0.64926	0.088	0.00943	0.420544483464	0.41669	0.20870702297694346	0.20786	0.216239903924	0.24148	0.877464771271	0.93618	D	0.105649	0.41630	T	0.139313	0.68260	D	-0.0376627	0.67859	D	0.564012201761906	0.35007	D	0.451655	0.25786	T	0.38314518	0.59543	0.53580666	0.73176	0.38314518	0.59543	0.53580666	0.73177	-5.759	0.45110	T	.	.	0.241	0.56619	B	.;.;.	.;.;.	3.490674	0.48788	22.7	0.98754281507704555	0.45709	0.22565	0.21789	N	ALL	0.084468	0.17118	N	-0.242995421996812	0.31383	1.759194	-0.170269271334522	0.32636	1.858753	0.999999998012101	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.07	2.18	0.26813	0.921000	0.28338	3.087000	0.36263	0.272000	0.18543	0.852000	0.30477	1.000000	0.68203	0.968000	0.53726	0.0:0.8341:0.0:0.1659	5.404	0.15608	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	30.07	0	chr4	109433883	.	C	A	30.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.0146;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	14	0	1	4
chr4	109516571	109516571	T	C	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon10:c.T1952C:p.V651A,SEC24B:NM_001318086:exon10:c.T1949C:p.V650A,SEC24B:NM_001318085:exon11:c.T2054C:p.V685A,SEC24B:NM_006323:exon11:c.T2057C:p.V686A,SEC24B:NM_001300813:exon12:c.T2147C:p.V716A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.910	0.178018179034	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	-1.4	0.80474	T	-3.96	0.73579	D	0.907	0.90818	0.675	0.92863	D	0.740	0.91134	D	10	0.9608872	0.95497	D	0.178018	0.85328	D	0.910	0.97587	0.858	0.95662	0.907211780275	0.90628	0.7708348246216071	0.77032	0.696526092715	0.60853	0.817401230335	0.84630	D	0.515325	0.82946	D	0.442608	0.92144	D	0.398	0.92047	D	0.99867707490921	0.94827	D	0.987501	0.95747	D	0.77940047	0.82617	0.709509	0.82867	0.77940047	0.82619	0.709509	0.82868	-12.861	0.88997	D	.	.	0.620	0.77167	P	.;.;.	.;.;.	5.240790	0.87984	29.4	0.99909768690898237	0.97949	0.98805	0.87082	D	AEFGBI	0.885629	0.81632	D	0.956823638070828	0.94252	12.616	0.91276474594133	0.96106	14.30831	0.999994136540294	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.017000	0.88732	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.232	0.82169	858	0.34001	.;.;Sec23/Sec24, trunk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	612.33	36	chr4	109516571	.	T	C	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.371;DP=709;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.396;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	18	0	1	0
chr4	109682735	109682735	T	C	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon5:c.T605C:p.L202P	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.130286655314	7.7e-05	0.000199681	0.0004	0	0.0008	0	0	0.0003	0.0011	0.0013	0.0003428	53	154602	rs200701059	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0006	0.0031	0	0	0.0009	7.381e-05	0.0006	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	0.0004	0.0014	0	0	0.0034	0.0001	0.0014	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000691	0.42383	D	0.152770	1	0.81001	D	3.44	0.92123	M	1.05	0.39990	T	-6.32	0.90852	D	0.657	0.66700	-0.1802	0.78175	T	0.349	0.71328	T	10	0.15403649	0.29063	T	0.130287	0.81243	D	0.561	0.82003	.	.	0.698858692784	0.69625	0.9666267793243781	0.96650	0.578397025268	0.53743	0.48331668973	0.36513	T	0.264309	0.63607	T	0.0463884	0.57876	T	0.182891	0.82162	D	0.182532305087413	0.19394	T	0.834417	0.50357	T	0.94209456	0.95461	0.93163764	0.97207	0.94209456	0.95461	0.93163764	0.97208	-14.653	0.94986	D	.	.	0.635	0.70304	P	.	.	5.136045	0.85965	28.8	0.99917647359783635	0.98518	0.97928	0.78194	D	AEFBI	0.883907	0.81318	D	0.87810442794055	0.90646	10.49959	0.825963273928844	0.91537	10.93749	0.999999999456789	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	7.149000	0.76985	7.741000	0.68005	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.960000	0.51673	0.0:0.0:0.0:1.0	16.588	0.84597	906	0.23090	Calcium uniporter protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	46	chr4	109682735	.	T	C	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=790;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.44;SOR=0.846	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr4	109844159	109844159	G	A	exonic	RRH	.	nonsynonymous SNV	RRH:NM_006583:exon7:c.G976A:p.D326N	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0045	0.00319489	0.0038	0.0005	0.0055	0	0.0009	0.0056	0.0077	0.0001	0.0039327	608	154602	rs144856430	0.0054	0.0054	0.0055	0.0052	0.0069	0.0053	0.0052	0.0063	0.0062	0.0008	0.0069	0.0012	0	0.0010	0.0019	0.0063	0.0057	9.278e-05	0.0044	0.0044	0.0044	0.0045	0.0117	0.0042	0.0040	0.0103	0.0098	0.0011	0	0.0117	0.0009	0	0.0008	0.0034	0.0062	0.0057	0.0002	0.475	0.08359	T	0.639	0.06992	T	0.0	0.02946	B	0.001	0.04355	B	0.033981	0.01780	N	2.486670	0.605369	0.32574	D	1.1	0.28011	L	1.26	0.36330	T	0.6	0.02518	N	0.042	0.01498	-1.0046	0.28577	T	0.053	0.22617	T	10	0.00325796	0.00056	T	.	.	.	0.148	0.39182	.	.	0.42828666871	0.42450	0.6450264407993006	0.64437	0.0240129519137	0.02436	0.322860658169	0.13855	T	0.015326	0.12876	T	-0.669609	0.00055	T	-0.730619	0.04300	T	0.00972666445201905	0.00127	T	0.657134	0.26688	T	0.030601827	0.02753	0.030692099	0.01557	0.030601827	0.02752	0.030692099	0.01557	-2.97	0.09861	T	.	.	0.082	0.08560	B	.	.	2.246033	0.28689	17.88	0.7761830606590705	0.11951	0.73200	0.35809	D	AEFI	0.116212	0.22816	N	-0.439012079605759	0.24114	1.299779	-0.290848757559635	0.28399	1.583171	0.00812204511013033	0.11615	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	3.96	0.45097	5.064000	0.64169	3.415000	0.38214	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.6596:0.0:0.3404:0.0	4.682	0.12124	691	0.58815	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.020202	0.014946	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1352.33	35	chr4	109844159	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.628;DP=743;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.178;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	18	0	1	0
chr4	110513416	110513416	G	A	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon7:c.G1310A:p.R437H,ENPEP:NM_001379612:exon7:c.G1310A:p.R437H,ENPEP:NM_001379613:exon7:c.G1310A:p.R437H,ENPEP:NM_001977:exon7:c.G1310A:p.R437H	.	456	1064	2	0	0	2	0.000938967	0.0004	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00957793566032	0.0029	0.00159744	0.0037	0.0008	0.0010	0.0002	0.0088	0.0055	0.0033	0.0001	0.0035316	546	154602	rs34949711	0.0037	0.0037	0.0038	0.0036	0.0042	0.0036	0.0036	0.0041	0.0040	0.0003	0.0009	3.845e-05	0.0003	0.0091	0.0017	0.0042	0.0029	0.0001	0.0029	0.0029	0.0026	0.0031	0.0043	0.0026	0.0026	0.0039	0.0038	0.0004	0	0.0013	0	0.0008	0.0092	0	0.0043	0.0019	0	0.566	0.06262	T	0.536	0.09897	T	0.999	0.77913	D	0.912	0.64797	D	0.001124	0.40136	N	0.251978	0.512933	0.31632	N	2.215	0.62545	M	4.2	0.02689	T	-1.56	0.37759	N	0.219	0.24510	-1.0571	0.12491	T	0.015	0.05994	T	10	0.0074540675	0.00169	T	0.009578	0.25062	T	0.107	0.30369	.	.	0.369867359543	0.36593	0.4459094422832948	0.44508	0.159954026429	0.18046	0.370943337679	0.20968	T	0.080009	0.36262	T	-0.489844	0.00651	T	-0.473096	0.25184	T	0.0617222051701308	0.07437	T	0.840516	0.51562	T	0.2536863	0.48392	0.14793621	0.34989	0.2536863	0.48392	0.14793621	0.34988	-4.431	0.29975	T	.	.	0.117	0.23640	B	.	.	2.951391	0.39270	20.9	0.87940306607983898	0.17595	0.86464	0.45750	D	AEFI	0.635101	0.61473	D	0.140065009867941	0.48340	3.047688	0.0767954177121343	0.43383	2.641281	0.366345545279059	0.19826	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.39	1.22	0.20300	1.260000	0.32571	0.316000	0.17134	0.676000	0.76740	0.988000	0.36536	0.028000	0.21151	0.997000	0.79791	0.0:0.0:0.2806:0.7193	14.895	0.70277	856	0.34373	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1573.33	34	chr4	110513416	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=759;ExcessHet=0;FS=6.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.152;SOR=1.325	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1163	18	0	1	0
chr4	112278361	112278361	G	A	exonic	TIFA	.	nonsynonymous SNV	TIFA:NM_052864:exon2:c.C56T:p.T19M	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	0.0108	0.0113818	0.0032	0.0337	0.0019	0.0001	0	0.0003	0	0.0002	0.0030077	465	154602	rs6834237	0.0010	0.0010	0.0011	0.0009	0.0313	0.0009	0.0009	0.0297	0.0291	0.0313	0.0022	0	2.523e-05	0	0.0051	8.672e-05	0.0026	7.098e-05	0.0094	0.0094	0.0098	0.0090	0.0322	0.0090	0.0088	0.0307	0.0302	0.0322	0	0.0033	0	0.0002	0	0.0034	0.0003	0.0100	0.0002	0.011	0.55530	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.097241	0.999431	0.47043	D	2.75	0.80375	M	0.81	0.48460	T	-3.21	0.64826	D	0.229	0.29889	-0.6714	0.61765	T	0.145	0.46786	T	10	0.0067516863	0.00153	T	.	.	.	0.211	0.50185	.	.	0.724680275035	0.72224	0.6335347604182903	0.63287	1.18544460508	0.80128	0.505062520504	0.39533	T	0.197802	0.55458	T	-0.400934	0.02283	T	-0.324316	0.42100	T	0.0295651626667107	0.01922	T	0.835117	0.50455	T	0.23997004	0.46894	0.1895631	0.42310	0.23997004	0.46894	0.1895631	0.42310	-5.982	0.46129	T	.	.	0.107	0.20235	B	.;.	.;.	4.601672	0.72891	25.9	0.99913413061629464	0.98238	0.89611	0.50186	D	AEFDGBCI	0.418177	0.48591	N	0.7543497403034	0.83187	7.952312	0.740233992652113	0.85425	8.57691	0.999999999573468	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.947000	0.56362	7.406000	0.58608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.334	0.98733	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.014946	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	737.33	37	chr4	112278361	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.335;SOR=0.6	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr4	112430635	112430635	C	T	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.C854T:p.T285I,ALPK1:NM_001102406:exon11:c.C1088T:p.T363I,ALPK1:NM_025144:exon11:c.C1088T:p.T363I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00825074814604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216983479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.082	0.33254	T	0.165	0.31125	T	0.028	0.19712	B	0.016	0.17743	B	0.000406	0.44736	D	0.231195	0.997583	0.22598	N	1.87	0.49600	L	4.18	0.02743	T	-1.69	0.40274	N	0.175	0.24135	-0.9619	0.38819	T	0.009	0.03054	T	10	0.110236645	0.20597	T	0.008251	0.21853	T	0.071	0.20720	0.409	0.44395	0.227260227426	0.22338	.	.	0.171870069191	0.19354	0.495460361242	0.38195	T	0.043679	0.26579	T	-0.155962	0.27384	T	-0.461805	0.26404	T	0.751267492771149	0.43355	D	0.770723	0.40088	T	0.23284815	0.46080	0.118302785	0.28558	0.23284815	0.46080	0.118302785	0.28557	-3.396	0.23293	T	0.27808078784777884	0.37293	0.218	0.44771	B	.;.;.	.;.;.	2.608825	0.33880	19.47	0.99638589718914583	0.76510	0.73876	0.36135	D	AEFBI	0.099275	0.19987	N	-0.234236036253072	0.31737	1.782618	-0.134833408348903	0.33996	1.950741	0.0221457051675887	0.13407	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	5.72	3.99	0.45527	1.726000	0.37706	1.555000	0.27319	0.599000	0.40250	0.886000	0.31111	0.892000	0.27844	0.988000	0.63387	0.2699:0.5842:0.0:0.1459	5.630	0.16786	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	964.33	34	chr4	112430635	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=715;ExcessHet=0;FS=8.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.184;SOR=1.58	GT:AD:DP:GQ:PL	0/1:39,34:73:99:978,0,1117	18	0	1	0
chr4	112432000	112432000	G	A	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.G2219A:p.C740Y,ALPK1:NM_001102406:exon11:c.G2453A:p.C818Y,ALPK1:NM_025144:exon11:c.G2453A:p.C818Y	.	431	1090	1	0	0	1	0.000458505	.	.	.	2128877	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.0128251796453	0.0003	0.000199681	9.186e-05	0	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs112483372	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0005	0.0003	0.0002	0	0	0.0026	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	9.62e-05	0	0.0004	0	0	0	0.0102	0.0002	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.101904	0.02555	N	1.749210	1	0.08975	N	1.245	0.31408	L	4.29	0.02462	T	-0.59	0.19720	N	0.048	0.01999	-0.9300	0.44139	T	0.008	0.02679	T	10	0.030257225	0.01152	T	0.012825	0.31723	T	0.078	0.22779	.	.	0.296679040009	0.29266	.	.	0.149027332707	0.16801	0.203576207161	0.00568	T	0.005322	0.04771	T	-0.595249	0.00156	T	-0.795251	0.02023	T	0.0168151445686817	0.00435	T	0.339366	0.07307	T	0.047092766	0.07991	0.06277159	0.12333	0.047092766	0.07991	0.06277159	0.12332	-4.443	0.30136	T	0.28280122856214185	0.37836	0.092	0.13597	B	.;.;.	.;.;.	-0.049597	0.03954	0.884	0.25909012528438385	0.01216	0.08026	0.14004	N	AEFBI	0.082530	0.16712	N	-1.34040869697903	0.03225	0.143711	-1.34228421361715	0.03897	0.1827534	0.00244408499720687	0.09436	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.62	-0.416	0.11736	0.107000	0.15212	-0.442000	0.09154	-0.761000	0.03509	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2679:0.107:0.5158:0.1094	3.478	0.07158	801	0.44448	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.009511	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	4750.81	66	chr4	112432000	.	G	A	4750.81	.	AC=2;AF=0.053;AN=38;DP=1589;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.05;SOR=0.97	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	1	0	0
chr4	113348297	113348297	C	A	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon15:c.C1921A:p.Q641K,ANK2:NM_001354280:exon15:c.C1942A:p.Q648K,ANK2:NM_001354281:exon15:c.C1921A:p.Q641K,ANK2:NM_001354279:exon16:c.C1957A:p.Q653K,ANK2:NM_001354282:exon16:c.C1957A:p.Q653K,ANK2:NM_001354277:exon33:c.C4009A:p.Q1337K,ANK2:NM_001354260:exon34:c.C4108A:p.Q1370K,ANK2:NM_001354268:exon34:c.C4195A:p.Q1399K,ANK2:NM_001354271:exon34:c.C4108A:p.Q1370K,ANK2:NM_001354273:exon34:c.C4093A:p.Q1365K,ANK2:NM_001354228:exon35:c.C4294A:p.Q1432K,ANK2:NM_001354245:exon35:c.C4231A:p.Q1411K,ANK2:NM_001354249:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354257:exon35:c.C4132A:p.Q1378K,ANK2:NM_001354258:exon35:c.C4294A:p.Q1432K,ANK2:NM_001354264:exon35:c.C4228A:p.Q1410K,ANK2:NM_001354266:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354267:exon35:c.C4207A:p.Q1403K,ANK2:NM_001354269:exon35:c.C4180A:p.Q1394K,ANK2:NM_001354276:exon35:c.C4207A:p.Q1403K,ANK2:NM_001148:exon36:c.C4393A:p.Q1465K,ANK2:NM_001354236:exon36:c.C4291A:p.Q1431K,ANK2:NM_001354240:exon36:c.C4438A:p.Q1480K,ANK2:NM_001354253:exon36:c.C4168A:p.Q1390K,ANK2:NM_001354261:exon36:c.C4252A:p.Q1418K,ANK2:NM_001354262:exon36:c.C4231A:p.Q1411K,ANK2:NM_001354270:exon36:c.C4168A:p.Q1390K,ANK2:NM_001354275:exon36:c.C4231A:p.Q1411K,ANK2:NM_020977:exon36:c.C4393A:p.Q1465K,ANK2:NM_001354225:exon37:c.C4405A:p.Q1469K,ANK2:NM_001354230:exon37:c.C4372A:p.Q1458K,ANK2:NM_001354231:exon37:c.C4435A:p.Q1479K,ANK2:NM_001354232:exon37:c.C4429A:p.Q1477K,ANK2:NM_001354235:exon37:c.C4390A:p.Q1464K,ANK2:NM_001354241:exon37:c.C4438A:p.Q1480K,ANK2:NM_001354242:exon37:c.C4435A:p.Q1479K,ANK2:NM_001354243:exon37:c.C4330A:p.Q1444K,ANK2:NM_001354246:exon37:c.C4390A:p.Q1464K,ANK2:NM_001354255:exon37:c.C4330A:p.Q1444K,ANK2:NM_001354265:exon37:c.C4390A:p.Q1464K,ANK2:NM_001127493:exon38:c.C4366A:p.Q1456K,ANK2:NM_001354237:exon38:c.C4471A:p.Q1491K,ANK2:NM_001354244:exon38:c.C4327A:p.Q1443K,ANK2:NM_001354254:exon38:c.C4342A:p.Q1448K,ANK2:NM_001354256:exon38:c.C4327A:p.Q1443K,ANK2:NM_001354272:exon38:c.C4264A:p.Q1422K,ANK2:NM_001354239:exon39:c.C4363A:p.Q1455K,ANK2:NM_001354252:exon39:c.C4363A:p.Q1455K	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	509651	Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_specified	MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00923751917246	.	.	8.28e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs761254386	1.711e-05	1.71e-05	1.362e-05	2.064e-05	2.069e-05	1.174e-05	9.93e-06	1.378e-05	1.151e-05	0	0	0	0	0	0	2.069e-05	3.313e-05	0	6.576e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.229	0.32610	T	0.982	0.06762	T	0.001	0.22494	B	0.002	0.27757	B	0.001735	0.38161	N	0.116708	0.588124	0.32432	D	1.59	0.40313	L	1.74	0.26301	T	-1.82	0.51478	N	0.392	0.43320	-0.8825	0.49561	T	0.198	0.55329	T	10	0.2205421	0.38753	T	0.009238	0.24272	T	0.084	0.24469	.	.	0.458321483586	0.45457	0.14055917230354126	0.13978	0.764298165902	0.64412	0.578275799751	0.49843	T	0.282196	0.75725	T	-0.144433	0.29187	T	-0.381599	0.35536	T	0.425141662359238	0.29880	T	0.932107	0.81010	D	0.25256434	0.48273	0.21720687	0.46377	0.25256434	0.48273	0.21720687	0.46376	-3.821	0.51168	T	0.5068027275288153	0.58113	0.092	0.20508	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.891026	0.56615	23.8	0.98664577961719191	0.44386	0.98916	0.88583	D	AEFBI	0.822873	0.74310	D	0.416778125590419	0.62345	4.448849	0.513529298576373	0.68898	5.284196	0.999999888807073	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	5.811000	0.68860	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.800	0.96498	706	0.57215	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2113.33	182	chr4	113348297	.	C	A	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.83;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr4	113354145	113354145	C	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.C5527T:p.P1843S	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0134678497429	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs761560238	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.143	0.33219	T	.	.	.	.	.	.	0.056358	0.22567	N	0.322809	1	0.22451	N	-0.805	0.01590	N	-0.1	0.64445	T	-1.44	0.35399	N	0.054	0.02559	-1.0579	0.12286	T	0.073	0.29483	T	9	0.029613584	0.01088	T	0.013468	0.32898	T	0.052	0.14661	.	.	0.082315109003	0.07666	0.0350006402153922	0.03447	0.0809506791772	0.09113	0.259405314922	0.04820	T	0.321634	0.69271	T	-0.356698	0.04320	T	-0.653294	0.08724	T	0.0357107553522778	0.02930	T	0.724428	0.33821	T	0.030661717	0.02769	0.048833612	0.07336	0.030661717	0.02769	0.048833612	0.07335	-1.837	0.02622	T	0.1764103716628883	0.22509	0.068	0.02927	B	.;.	.;.	-0.084575	0.03735	0.771	0.7969208139590036	0.12857	0.01723	0.05455	N	AEFGBI	0.053164	0.09554	N	-1.24289808755377	0.04393	0.1982051	-1.23377417811734	0.05376	0.2559736	0.999989177514296	0.51787	0.562547	0.31514	0	0.491513	0.07743	0	0.608884	0.39905	0	0.542086	0.14980	0	.	.	5.96	-4.37	0.03381	-0.185000	0.09679	-2.384000	0.03821	-0.182000	0.10109	0.003000	0.16062	0.000000	0.08366	0.969000	0.54022	0.1976:0.348:0.0917:0.3627	1.635	0.02574	643	0.63827	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3548.33	59	chr4	113354145	.	C	T	3548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.1;DP=1237;ExcessHet=0;FS=5.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.816;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	18	0	1	0
chr4	113365126	113365126	G	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2249T:p.R750L,ANK2:NM_001354280:exon19:c.G2270T:p.R757L,ANK2:NM_001354281:exon19:c.G2249T:p.R750L,ANK2:NM_001354279:exon20:c.G2285T:p.R762L,ANK2:NM_001354282:exon20:c.G2285T:p.R762L,ANK2:NM_001354277:exon37:c.G4337T:p.R1446L,ANK2:NM_001354260:exon38:c.G4436T:p.R1479L,ANK2:NM_001354268:exon38:c.G4523T:p.R1508L,ANK2:NM_001354271:exon38:c.G4436T:p.R1479L,ANK2:NM_001354273:exon38:c.G4421T:p.R1474L,ANK2:NM_001354274:exon38:c.G4487T:p.R1496L,ANK2:NM_001354228:exon39:c.G4622T:p.R1541L,ANK2:NM_001354245:exon39:c.G4559T:p.R1520L,ANK2:NM_001354249:exon39:c.G4535T:p.R1512L,ANK2:NM_001354257:exon39:c.G4460T:p.R1487L,ANK2:NM_001354258:exon39:c.G4622T:p.R1541L,ANK2:NM_001354264:exon39:c.G4556T:p.R1519L,ANK2:NM_001354266:exon39:c.G4535T:p.R1512L,ANK2:NM_001354267:exon39:c.G4535T:p.R1512L,ANK2:NM_001354269:exon39:c.G4508T:p.R1503L,ANK2:NM_001354276:exon39:c.G4535T:p.R1512L,ANK2:NM_001354236:exon40:c.G4619T:p.R1540L,ANK2:NM_001354240:exon40:c.G4766T:p.R1589L,ANK2:NM_001354253:exon40:c.G4496T:p.R1499L,ANK2:NM_001354261:exon40:c.G4580T:p.R1527L,ANK2:NM_001354262:exon40:c.G4559T:p.R1520L,ANK2:NM_001354270:exon40:c.G4496T:p.R1499L,ANK2:NM_001354275:exon40:c.G4559T:p.R1520L,ANK2:NM_020977:exon40:c.G4721T:p.R1574L,ANK2:NM_001148:exon41:c.G10976T:p.R3659L,ANK2:NM_001354225:exon41:c.G4733T:p.R1578L,ANK2:NM_001354230:exon41:c.G4700T:p.R1567L,ANK2:NM_001354231:exon41:c.G4763T:p.R1588L,ANK2:NM_001354232:exon41:c.G4757T:p.R1586L,ANK2:NM_001354235:exon41:c.G4718T:p.R1573L,ANK2:NM_001354241:exon41:c.G4766T:p.R1589L,ANK2:NM_001354242:exon41:c.G4763T:p.R1588L,ANK2:NM_001354243:exon41:c.G4658T:p.R1553L,ANK2:NM_001354246:exon41:c.G4718T:p.R1573L,ANK2:NM_001354255:exon41:c.G4658T:p.R1553L,ANK2:NM_001354265:exon41:c.G4718T:p.R1573L,ANK2:NM_001127493:exon42:c.G4694T:p.R1565L,ANK2:NM_001354237:exon42:c.G4799T:p.R1600L,ANK2:NM_001354244:exon42:c.G4655T:p.R1552L,ANK2:NM_001354254:exon42:c.G4670T:p.R1557L,ANK2:NM_001354256:exon42:c.G4655T:p.R1552L,ANK2:NM_001354272:exon42:c.G4592T:p.R1531L,ANK2:NM_001354239:exon43:c.G4691T:p.R1564L,ANK2:NM_001354252:exon43:c.G4691T:p.R1564L	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	367810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|not_provided|ANK2-related_disorder	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.257	0.401575544266	.	0.000399361	0.0002	0	0	0	0	8.999e-05	0	0.0010	0.0001682	26	154602	rs556640912	9.988e-05	9.987e-05	6.262e-05	0.0001	0.0008	8.646e-05	8.134e-05	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	5.126e-05	0.0002	0.0008	5.259e-05	5.252e-05	5.145e-05	5.378e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.025e-05	2.41e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0006	0.067	0.45756	T	0.32	0.41573	T	0.029	0.33532	B	0.068	0.31087	B	0.011438	0.29535	N	0.238980	0.999998	0.19238	N	2.215	0.62545	M	-3.05	0.92407	D	0.99	0.65512	N	0.221	0.73285	-0.4037	0.71911	T	0.579	0.84849	D	10	0.04315573	0.03135	T	0.401576	0.93409	D	0.257	0.56827	0.371	0.38176	0.837322791105	0.83577	0.3072072113509239	0.30633	0.101454333348	0.11481	0.285079956055	0.08211	T	0.417125	0.76987	T	-0.176717	0.24226	T	-0.0872165	0.64372	T	0.0536300245162474	0.06127	T	0.890411	0.62583	D	0.083070025	0.19166	0.08085652	0.18325	0.09092116	0.21290	0.08189752	0.18649	-2.674	0.24460	T	0.4928774191658802	0.56943	0.229	0.46109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.890472	0.38275	20.7	0.99130752144940593	0.53249	0.77416	0.38061	D	AEFBI	0.390653	0.46940	N	-0.216510003835822	0.32457	1.830594	-0.0940333591062437	0.35635	2.064092	0.418669609232242	0.20273	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	3.54	0.39650	2.674000	0.46532	1.378000	0.26011	0.676000	0.76740	0.994000	0.38300	0.832000	0.27222	0.984000	0.60418	0.2047:0.0:0.6375:0.1577	5.425	0.15720	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1228.33	33	chr4	113365126	.	G	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=766;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.241;SOR=0.968	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1358	18	0	1	0
chr4	113369602	113369602	A	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon21:c.A2680T:p.T894S,ANK2:NM_001354280:exon21:c.A2701T:p.T901S,ANK2:NM_001354281:exon21:c.A2680T:p.T894S,ANK2:NM_001354279:exon22:c.A2716T:p.T906S,ANK2:NM_001354282:exon22:c.A2716T:p.T906S,ANK2:NM_001354277:exon39:c.A4768T:p.T1590S,ANK2:NM_001354260:exon40:c.A4867T:p.T1623S,ANK2:NM_001354268:exon40:c.A4954T:p.T1652S,ANK2:NM_001354271:exon40:c.A4867T:p.T1623S,ANK2:NM_001354273:exon40:c.A4852T:p.T1618S,ANK2:NM_001354274:exon40:c.A4918T:p.T1640S,ANK2:NM_001354228:exon41:c.A5053T:p.T1685S,ANK2:NM_001354245:exon41:c.A4990T:p.T1664S,ANK2:NM_001354249:exon41:c.A4966T:p.T1656S,ANK2:NM_001354257:exon41:c.A4891T:p.T1631S,ANK2:NM_001354258:exon41:c.A5053T:p.T1685S,ANK2:NM_001354264:exon41:c.A4987T:p.T1663S,ANK2:NM_001354266:exon41:c.A4966T:p.T1656S,ANK2:NM_001354267:exon41:c.A4966T:p.T1656S,ANK2:NM_001354269:exon41:c.A4939T:p.T1647S,ANK2:NM_001354276:exon41:c.A4966T:p.T1656S,ANK2:NM_001354236:exon42:c.A5050T:p.T1684S,ANK2:NM_001354240:exon42:c.A5197T:p.T1733S,ANK2:NM_001354253:exon42:c.A4927T:p.T1643S,ANK2:NM_001354261:exon42:c.A5011T:p.T1671S,ANK2:NM_001354262:exon42:c.A4990T:p.T1664S,ANK2:NM_001354270:exon42:c.A4927T:p.T1643S,ANK2:NM_001354275:exon42:c.A4990T:p.T1664S,ANK2:NM_020977:exon42:c.A5152T:p.T1718S,ANK2:NM_001148:exon43:c.A11407T:p.T3803S,ANK2:NM_001354225:exon43:c.A5164T:p.T1722S,ANK2:NM_001354230:exon43:c.A5131T:p.T1711S,ANK2:NM_001354231:exon43:c.A5194T:p.T1732S,ANK2:NM_001354232:exon43:c.A5188T:p.T1730S,ANK2:NM_001354235:exon43:c.A5149T:p.T1717S,ANK2:NM_001354241:exon43:c.A5197T:p.T1733S,ANK2:NM_001354242:exon43:c.A5194T:p.T1732S,ANK2:NM_001354243:exon43:c.A5089T:p.T1697S,ANK2:NM_001354246:exon43:c.A5149T:p.T1717S,ANK2:NM_001354255:exon43:c.A5089T:p.T1697S,ANK2:NM_001354265:exon43:c.A5149T:p.T1717S,ANK2:NM_001127493:exon44:c.A5125T:p.T1709S,ANK2:NM_001354237:exon44:c.A5230T:p.T1744S,ANK2:NM_001354244:exon44:c.A5086T:p.T1696S,ANK2:NM_001354254:exon44:c.A5101T:p.T1701S,ANK2:NM_001354256:exon44:c.A5086T:p.T1696S,ANK2:NM_001354272:exon44:c.A5023T:p.T1675S,ANK2:NM_001354239:exon45:c.A5122T:p.T1708S,ANK2:NM_001354252:exon45:c.A5122T:p.T1708S	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0445853029146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.58626	T	0.796	0.50514	T	0.001	0.23866	B	0.012	0.17295	B	0.011832	0.29386	N	0.233115	1	0.08975	N	1.79	0.46772	L	-0.17	0.95859	T	0.22	0.30964	N	0.094	0.17691	-0.1169	0.79707	T	0.698	0.89591	D	10	0.07384136	0.11210	T	0.044585	0.61562	D	0.095	0.27398	0.3	0.26683	0.726479719631	0.72405	0.10578488658162245	0.10508	0.16739683595	0.18886	0.235181301832	0.02374	T	0.264873	0.63669	T	0.0569978	0.59235	T	-0.155903	0.58719	T	0.0678694231388304	0.08350	T	0.786621	0.43084	T	0.026736442	0.01768	0.041211408	0.04634	0.026736442	0.01768	0.041211408	0.04634	-2.444	0.06097	T	0.11845656821371332	0.10931	0.097	0.16626	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.666486	0.10347	7.077	0.80079254978924563	0.13035	0.07557	0.13570	N	AEFBI	0.098350	0.19820	N	-0.840533603768073	0.12284	0.5978067	-0.893120106068429	0.12256	0.6293966	0.764500340720774	0.23565	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.66	0.059	0.13642	0.540000	0.22900	0.970000	0.23052	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.531000	0.29730	0.4008:0.1473:0.3082:0.1437	1.207	0.01781	605	0.67457	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1478.33	33	chr4	113369602	.	A	T	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=737;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.219;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr4	117084992	117084992	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T402G:p.I134M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0865422546552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.843	0.46605	P	0.873	0.61978	P	0.078778	0.21024	N	0.526393	0.983664	0.24866	N	2.39	0.68882	M	-2.06	0.85875	D	-1.34	0.33401	N	0.312	0.35194	-0.2078	0.77471	T	0.552	0.83593	D	10	0.30985647	0.48469	T	0.086542	0.74757	D	0.385	0.70194	0.377	0.39156	0.541194085853	0.53772	0.1707560074829598	0.16995	0.599866105322	0.55088	0.345022648573	0.17186	T	0.417555	0.77017	T	-0.0399243	0.45961	T	-0.295125	0.45236	T	0.362650573253632	0.27513	T	0.787321	0.42620	T	0.13944669	0.32211	0.121666946	0.29353	0.13944669	0.32211	0.121666946	0.29353	-7.166	0.55237	T	.	.	0.084	0.09772	B	.	.	1.598618	0.20438	14.75	0.9568524711822417	0.27552	0.05261	0.11099	N	AEFDBCI	0.058693	0.11030	N	-0.964344624043748	0.09373	0.4433518	-1.25069369129323	0.05121	0.2432473	0.99999661129349	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.507148	0.09336	0	0.650387	0.60102	1	.	.	4.29	-6.19	0.01900	-0.495000	0.06524	-2.494000	0.03685	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4983:0.35:0.1517:0.0	7.006	0.24014	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2191.33	33	chr4	117084992	.	A	C	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=800;ExcessHet=0;FS=2.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.077;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr4	119256334	119256334	A	G	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon6:c.A461G:p.K154R,USP53:NM_001371397:exon6:c.A461G:p.K154R,USP53:NM_001371399:exon6:c.A461G:p.K154R,USP53:NM_001371398:exon7:c.A461G:p.K154R,USP53:NM_019050:exon7:c.A461G:p.K154R,USP53:NM_001371395:exon8:c.A461G:p.K154R	.	439	1062	18	3	0	24	0.0111732	.	.	.	2103584	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.354	0.0126248131803	0.0011	0.00239617	0.0020	0.0002	0.0020	0.0002	0.0003	0.0013	0.0056	0.0078	0.0019922	308	154602	rs61736682	0.0019	0.0019	0.0016	0.0021	0.0076	0.0018	0.0018	0.0071	0.0069	0.0004	0.0017	0.0006	0.0001	0.0002	0.0040	0.0016	0.0021	0.0076	0.0011	0.0012	0.0009	0.0014	0.0056	0.0010	0.0010	0.0039	0.0034	0.0003	0	0.0029	0	0.0002	0.0003	0.0102	0.0011	0.0024	0.0056	0.035	0.43708	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.997474	0.43918	D	1.95	0.52479	M	3.46	0.05249	T	-2.62	0.56301	D	0.803	0.80964	-1.1769	0.00417	T	0.050	0.21378	T	10	0.025051028	0.00712	T	0.012625	0.31353	T	0.354	0.67510	.	.	0.69033799254	0.68767	0.5029245270469038	0.50214	0.554734309268	0.52204	0.741073608398	0.73131	T	0.066471	0.32955	T	-0.267715	0.12012	T	-0.153186	0.58960	T	0.0251293542542769	0.01290	T	0.935406	0.75832	D	0.3369419	0.56035	0.37806222	0.62892	0.3369419	0.56035	0.37806222	0.62892	-9.576	0.71331	D	0.5955656123590426	0.66244	0.293	0.52459	B	.;.	.;.	4.788932	0.77693	26.8	0.998821011568918	0.95813	0.99256	0.93532	D	AEFBI	0.875797	0.79942	D	0.746605719785329	0.82682	7.823556	0.75212881491673	0.86316	8.850223	0.999942378791536	0.47345	0.706548	0.73137	0	0.588015	0.36545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	9.181000	0.94000	11.049000	0.85275	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.781	0.78035	538	0.73119	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	880.33	33	chr4	119256334	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.865;DP=683;ExcessHet=0;FS=4.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.379;SOR=1.204	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S,USP53:NM_001371397:exon14:c.C1849T:p.P617S,USP53:NM_001371399:exon14:c.C1849T:p.P617S,USP53:NM_001371398:exon15:c.C1849T:p.P617S,USP53:NM_019050:exon15:c.C1849T:p.P617S,USP53:NM_001371395:exon16:c.C1849T:p.P617S	.	436	1068	18	0	0	18	0.00835655	.	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.014620	0.000000	0.025862	0.012195	0.007576	0.07895	6429.79	33	chr4	119271709	.	C	T	6429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.803;DP=1112;ExcessHet=0.3672;FS=0.517;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.183;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1135	16	0	3	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.72	80	chr4	119271801	.	G	C	99.72	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.307;DP=2193;ExcessHet=0.119;FS=222.232;InbreedingCoeff=-0.1772;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=10.087	GT:AD:DP:GQ:PL	0/0:112,0:112:42:0,42,2586	10	0	2	7
chr4	121157144	121157144	C	G	exonic	TNIP3	.	nonsynonymous SNV	TNIP3:NM_024873:exon4:c.G313C:p.E105Q,TNIP3:NM_001128843:exon7:c.G523C:p.E175Q,TNIP3:NM_001244764:exon7:c.G544C:p.E182Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0104334212785	.	.	4.945e-05	0	0	0	0	4.498e-05	0	0.0002	3.84e-05	1	26028	.	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	4.497e-06	3.312e-05	0.0001	6.577e-06	6.57e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.44358	D	0.059	0.57587	T	0.958	0.54977	D	0.587	0.50368	P	0.145765	0.18135	N	0.515844	1	0.08975	N	2.215	0.62545	M	0.04	0.62051	T	-1.75	0.42763	N	0.179	0.19325	-0.7901	0.55724	T	0.253	0.62258	T	9	0.10496065	0.19377	T	0.010433	0.26958	T	0.087	0.25287	0.147	0.05039	0.656780015411	0.65391	0.20540920449884273	0.20457	0.370947433629	0.38600	0.434640139341	0.29844	T	0.092838	0.39087	T	-0.389788	0.02699	T	-0.52338	0.19953	T	0.213995411992073	0.21159	T	0.527047	0.17380	T	0.18702467	0.40138	0.13383405	0.32084	0.18702467	0.40137	0.13383405	0.32083	-6.351	0.49275	T	.	.	0.104	0.22208	B	.;.;.	.;.;.	1.931853	0.24540	16.43	0.9821701497292914	0.39263	0.15762	0.19069	N	ALL	0.107922	0.21486	N	-0.548081713784275	0.20544	1.083776	-0.819051884570318	0.14034	0.73121	0.999999784685169	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	0.69	0.69	0.17203	0.251000	0.18025	1.163000	0.24567	0.549000	0.26987	0.001000	0.13787	0.015000	0.20450	0.028000	0.12845	.	.	.	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1246.33	40	chr4	121157144	.	C	G	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=757;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.387;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1317	18	0	1	0
chr4	121329400	121329400	T	C	exonic	QRFPR	.	nonsynonymous SNV	QRFPR:NM_198179:exon6:c.A1210G:p.T404A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00719766558403	0.0007	0.000599042	0.0002	0.0016	8.637e-05	0	0	5.995e-05	0	6.058e-05	0.0001746	27	154602	rs149880616	7.251e-05	7.251e-05	6.943e-05	7.563e-05	0.0012	6.114e-05	5.7e-05	0.0009	0.0008	0.0012	0.0002	0	2.52e-05	0	0.0003	4.047e-05	0.0001	2.319e-05	0.0005	0.0005	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0001	0	0	0	0	4.41e-05	0.0009	0	0.03	0.45393	D	0.099	0.38891	T	0.001	0.07471	B	0.002	0.06944	B	0.085782	0.20622	N	0.471954	1	0.25458	N	0	0.06538	N	-0.56	0.71187	T	0.17	0.05125	N	0.112	0.09914	-1.0366	0.18357	T	0.099	0.36830	T	10	0.006972581	0.00159	T	0.007198	0.19089	T	0.096	0.27654	.	.	0.402899589544	0.39908	0.11351521546449712	0.11279	0.0216561446788	0.02158	0.275862157345	0.06922	T	0.016826	0.13832	T	-0.505147	0.00535	T	-0.528464	0.19441	T	0.0160475607113507	0.00384	T	0.49875	0.15541	T	0.050608113	0.09168	0.06677137	0.13724	0.050608113	0.09167	0.06677137	0.13724	-3.602	0.17886	T	.	.	0.063	0.01555	B	.	.	0.474914	0.08445	5.202	0.70353990999977023	0.09268	0.36390	0.25522	N	AEFI	0.127366	0.24470	N	-1.1858603650949	0.05213	0.2371325	-1.09722616492534	0.07754	0.3784582	0.0363448561365084	0.14241	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.63	2.86	0.32427	1.130000	0.31007	0.973000	0.23072	-0.203000	0.08628	0.790000	0.29595	0.001000	0.17328	0.028000	0.12845	0.0781:0.0:0.7724:0.1495	9.072	0.35656	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2313.33	34	chr4	121329400	.	T	C	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=990;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.321;SOR=0.863	GT:AD:DP:GQ:PL	0/1:106,93:199:99:2327,0,2745	18	0	1	0
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	432.33	38	chr4	121670000	.	C	T	432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.736;DP=678;ExcessHet=0;FS=4.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.43;SOR=0.86	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr4	121813268	121813268	A	G	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon9:c.A862G:p.I288V,EXOSC9:NM_005033:exon9:c.A862G:p.I288V	.	.	.	.	.	.	.	.	.	.	.	1360153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00576734358985	0.0003	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs34457380	9.51e-05	9.508e-05	8.033e-05	0.0001	0.0002	8.203e-05	7.718e-05	9.613e-05	8.96e-05	5.975e-05	2.236e-05	0	7.564e-05	0	0.0002	0.0001	6.625e-05	3.479e-05	0.0001	0.0001	0.0002	9.396e-05	0.0002	8.658e-05	7.251e-05	0.0002	0.0001	2.405e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0	0.239	0.29420	T	0.595	0.08419	T	0.0	0.02946	B	0.0	0.04355	B	0.000147	0.49130	N	0.258364	0.999001	0.45857	D	0.975	0.24501	L	1.87	0.25018	T	-0.37	0.13226	N	0.22	0.24634	-1.0673	0.10017	T	0.042	0.17910	T	10	0.05305022	0.05434	T	0.005767	0.14982	T	0.042	0.11227	.	.	0.173771789658	0.16945	0.19315542129959842	0.19233	0.0549176576499	0.06084	0.342042416334	0.16744	T	0.012731	0.11141	T	-0.485094	0.00691	T	-0.649867	0.08963	T	0.0886996622977503	0.11062	T	0.823718	0.48487	T	0.07847878	0.17874	0.06680852	0.13738	0.07847878	0.17874	0.06680852	0.13737	-3.227	0.12813	T	0.11029195706250744	0.09305	0.061	0.02200	B	.;.;.	.;.;.	2.395845	0.30777	18.54	0.98832433358636629	0.46985	0.82022	0.41316	D	AEFBCI	0.255146	0.37432	N	-0.212169926200213	0.32634	1.842535	-0.0228684581405713	0.38683	2.282644	0.999240855674848	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	4.72	0.59248	2.788000	0.47495	7.096000	0.57520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7172:0.1408:0.142:0.0	5.880	0.18095	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1465.33	34	chr4	121813268	.	A	G	1465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=735;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.26;SOR=0.944	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	18	0	1	0
chr4	122240180	122240180	A	C	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon27:c.A4498C:p.M1500L,KIAA1109:NM_001384125:exon29:c.A4498C:p.M1500L	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0143146056806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.021	0.58089	D	0.0	0.02946	B	0.0	0.01387	B	0.000061	0.52346	U	0.000000	0.997899	0.44295	D	0.805	0.20218	L	1.96	0.22270	T	-1.75	0.41428	N	0.269	0.32481	-0.9044	0.47515	T	0.164	0.50061	T	10	0.13613877	0.25903	T	0.014315	0.34357	T	0.087	0.25287	0.517	0.61763	0.489243007833	0.48558	0.5213087478871447	0.52053	0.489373666093	0.47703	0.50916326046	0.40104	T	0.035855	0.23881	T	-0.117204	0.33583	T	-0.406132	0.32672	T	0.562545746316954	0.34951	D	0.726327	0.34071	T	0.7148839	0.78877	0.63379616	0.78627	0.7148839	0.78878	0.63379616	0.78628	-1.941	0.02966	T	0.5143618247767036	0.58761	0.165	0.36315	B	.;.	.;.	2.023672	0.25718	16.86	0.97365808001498055	0.33598	0.96224	0.68106	D	AEFBI	0.424405	0.48959	N	0.163425408999101	0.49450	3.145213	0.267043543763254	0.53624	3.530538	0.819777504831937	0.24503	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.91	4.72	0.59248	5.048000	0.64050	5.173000	0.47836	-0.053000	0.16966	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.8334:0.1666:0.0:0.0	12.784	0.56870	841	0.37094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1859.33	33	chr4	122240180	.	A	C	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=762;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.914;SOR=0.516	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1337	18	0	1	0
chr4	122316514	122316514	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_001384125:exon62:c.A10706G:p.H3569R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.669e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.59	0.28836	T	0.3	0.04091	N	.	.	-0.8618	0.51133	T	0.160	0.49463	T	6	0.2771085	0.45276	T	.	.	.	0.156	0.40720	0.231	0.15855	0.545173277474	0.54172	.	.	.	.	.	.	.	0.002105	0.01509	T	-0.076939	0.40210	T	-0.348294	0.39400	T	0.617290539001975	0.37095	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.;.	.;.	2.262371	0.28910	17.95	0.97995682254424743	0.37438	0.99262	0.93620	D	AEFBI	0.798408	0.72496	D	0.411702957054516	0.62064	4.416458	0.486254321042019	0.67079	5.036178	0.99996692957306	0.48965	0.615465	0.37627	0	0.446627	0.06534	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.27	5.27	0.73797	7.417000	0.79365	6.100000	0.53542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.480	0.75253	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1286.33	44	chr4	122316514	.	A	G	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.01;DP=718;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.008;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1119	18	0	1	0
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y,SPATA5:NM_145207:exon15:c.G2485T:p.D829Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	434	1061	26	1	0	28	0.0130233	.	.	.	428275	not_provided|not_specified|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.025253	0.020380	0.011696	0.000000	0.008621	0.003049	0.011364	0.02632	1992.33	35	chr4	123256160	.	G	T	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=851;ExcessHet=0;FS=4.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.682;SOR=1.014	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1330	18	0	1	0
chr4	124669334	124669334	T	C	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.A3406G:p.T1136A,ANKRD50:NM_020337:exon4:c.A3943G:p.T1315A	.	434	1083	5	0	0	5	0.00230309	.	.	.	2196212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00819272064781	.	0.000199681	0.0002	9.677e-05	0.0008	0	0	0.0002	0.0022	0	0.0001746	27	154602	rs181647409	0.0001	0.0001	0.0001	0.0001	0.0031	9.673e-05	9.151e-05	0.0020	0.0017	2.992e-05	0.0007	0	0	1.872e-05	0.0031	8.365e-05	0.0002	1.16e-05	7.226e-05	7.218e-05	8.998e-05	5.374e-05	0.0005	3.97e-05	3.127e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	4.412e-05	0	0	0.323	0.13436	T	0.812	0.04288	T	0.0	0.02946	B	0.0	0.01387	B	0.400482	0.13131	N	0.739569	1	0.08975	N	-0.205	0.04094	N	-0.1	0.64264	T	0.09	0.05917	N	0.183	0.19861	-1.0297	0.20551	T	0.098	0.36754	T	10	0.020296454	0.00465	T	0.008193	0.21700	T	0.070	0.20419	.	.	0.311241185304	0.30733	0.039691894586697245	0.03915	0.216188211431	0.24143	0.258401602507	0.04702	T	0.022033	0.17054	T	-0.472081	0.00825	T	-0.568717	0.15567	T	0.0442675925234509	0.04468	T	0.647535	0.25853	T	0.094593525	0.22244	0.040456355	0.04376	0.094593525	0.22244	0.040456355	0.04375	-2.875	0.08896	T	.	.	0.059	0.01075	B	.;.	.;.	0.832586	0.12043	8.596	0.87404963056626728	0.17204	0.56213	0.30059	D	AEFBI	0.118527	0.23173	N	-0.802277896070613	0.13252	0.6515171	-0.698920451797366	0.16987	0.9012347	0.828935214779097	0.24658	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	2.48	0.29194	0.820000	0.26979	0.861000	0.22228	0.580000	0.29708	0.878000	0.30948	0.980000	0.30356	0.876000	0.41813	0.0:0.0737:0.306:0.6203	7.296	0.25566	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2230.33	34	chr4	124669334	.	T	C	2230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=982;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.533;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	18	0	1	0
chr4	125320714	125320714	A	G	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.A4303G:p.I1435V,FAT4:NM_001291303:exon2:c.A4303G:p.I1435V,FAT4:NM_024582:exon2:c.A4303G:p.I1435V	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	367880	Inborn_genetic_diseases|not_provided|FAT4-related_disorder|not_specified|Hennekam_lymphangiectasia-lymphedema_syndrome_2	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00272486760401	0.0030	0.00139776	0.0030	0.0011	0.0010	0	0.0011	0.0046	0	0.0017	0.0032535	503	154602	rs142747281	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0045	0.0055	0.0054	0.0008	0.0011	3.826e-05	2.519e-05	0.0014	0.0003	0.0056	0.0041	0.0013	0.0028	0.0028	0.0029	0.0026	0.0051	0.0025	0.0025	0.0046	0.0044	0.0013	0	0.0008	0	0	0.0003	0	0.0051	0.0014	0.0008	0.906	0.02389	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.338049	0.14007	U	0.513902	0.999501	0.21084	N	0.295	0.10161	N	0.78	0.49358	T	-0.17	0.09627	N	0.048	0.01999	-0.9952	0.31245	T	0.027	0.11441	T	10	0.009860128	0.00221	T	0.002725	0.05608	T	0.056	0.15993	.	.	0.0934897674506	0.08844	0.11840225263276702	0.11767	0.124959684129	0.14079	0.276730149984	0.07041	T	0.037834	0.24623	T	-0.616853	0.00115	T	-0.657339	0.08447	T	0.000622526541661505	0.00006	T	0.607039	0.22875	T	0.032078367	0.03165	0.027190184	0.00854	0.032078367	0.03164	0.027190184	0.00854	-3.408	0.15164	T	.	.	0.050	0.00148	B	.	.	0.775617	0.11457	8.062	0.72408882413369469	0.09963	0.68532	0.33838	D	AEFBI	0.092293	0.18687	N	-0.782763694918517	0.13759	0.6801785	-0.57380985926541	0.20176	1.085897	0.999637151808259	0.41205	0.722319	0.85440	0	0.624306	0.53593	0	0.577349	0.28860	0	0.735409	0.98432	0	.	.	4.87	1.06	0.19341	0.937000	0.28549	0.684000	0.20706	0.756000	0.94297	0.980000	0.35271	0.363000	0.24530	0.994000	0.71098	0.5259:0.1652:0.3089:0.0	4.823	0.12768	932	0.16191	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2076.33	156	chr4	125320714	.	A	G	2076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=2765;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.57;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:123,0:123:99:.:.:0,120,1800:.	18	0	1	0
chr4	125415696	125415696	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon6:c.G6733A:p.V2245I,FAT4:NM_001291303:exon6:c.G6733A:p.V2245I,FAT4:NM_024582:exon6:c.G6733A:p.V2245I	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	433	1088	1	0	0	1	0.000459348	.	.	.	438832	FAT4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.328	.	0.0059	0.00339457	0.0014	0.0155	0.0003	0	0	4.5e-05	0	0.0001	0.0012872	199	154602	rs112971995	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0139	0.0155	0.0005	0	0	0	0.0012	1.079e-05	0.0012	9.275e-05	0.0039	0.0039	0.0039	0.0039	0.0136	0.0037	0.0036	0.0126	0.0123	0.0136	0	0.0016	0	0	0	0	0	0.0028	0.0002	0.115	0.28520	T	0.013	0.63109	D	0.998	0.73220	D	0.997	0.86255	D	0.126960	0.18785	N	0.262455	0.999991	0.58761	D	1.25	0.31749	L	0.23	0.59717	T	-0.3	0.11913	N	0.295	0.33360	-0.5546	0.66611	T	0.219	0.58189	T	10	0.006260574	0.00141	T	.	.	.	0.328	0.65026	.	.	0.457320397359	0.45357	0.24431743082733648	0.24345	0.586606995313	0.54252	0.416295588017	0.27327	T	0.073427	0.34696	T	-0.462474	0.00949	T	-0.424765	0.30529	T	0.0348327328745323	0.02780	T	0.782222	0.41780	T	0.03913729	0.05346	0.05354215	0.09040	0.04528172	0.07385	0.05415989	0.09261	-5.417	0.42398	T	.	.	0.088	0.11558	B	.;.	.;.	2.763384	0.36256	20.2	0.99316109757652127	0.59204	0.98697	0.85708	D	AEFBI	0.786784	0.71676	D	0.383447214808693	0.60524	4.24233	0.25131815672406	0.52723	3.44537	0.982309050776757	0.30380	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.47	4.63	0.57175	6.698000	0.74433	7.543000	0.60123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0717:0.0:0.9283:0.0	14.265	0.65662	928	0.17405	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	3064.33	49	chr4	125415696	.	G	A	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=1212;ExcessHet=0;FS=2.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.869;SOR=0.891	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr4	125450461	125450461	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9451A:p.A3151T,FAT4:NM_001291303:exon10:c.G9451A:p.A3151T,FAT4:NM_024582:exon10:c.G9445A:p.A3149T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	434	1073	14	1	0	16	0.00740056	.	.	.	1154647	not_provided|Van_Maldergem_syndrome_2|Hennekam_lymphangiectasia-lymphedema_syndrome_2|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546,Orphanet:314679|MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.198	0.0260561735066	.	0.00119808	0.0010	9.73e-05	0.0012	0	0	0.0002	0	0.0058	0.0008538	132	154602	rs200702071	0.0006	0.0006	0.0003	0.0009	0.0073	0.0006	0.0006	0.0069	0.0067	5.974e-05	0.0007	0.0003	0	0	0.0043	0.0001	0.0006	0.0073	0.0003	0.0003	0.0001	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	4.813e-05	0	0.0003	0.0003	0	0	0	0.0001	0.0005	0.0050	0.115	0.28520	T	0.002	0.79402	D	0.996	0.68779	D	0.974	0.73157	D	0.004256	0.33945	U	0.000000	0.999999	0.58761	D	0.445	0.12748	N	4.65	0.01779	T	-1.66	0.39692	N	0.695	0.72567	-0.7350	0.58710	T	0.015	0.05801	T	10	0.01102519	0.00243	T	0.026056	0.48995	D	0.198	0.48105	.	.	0.290620346082	0.28682	0.36765165551382717	0.36679	0.617822451244	0.56206	0.523877620697	0.42172	T	0.107979	0.42063	T	-0.348199	0.04842	T	-0.269214	0.47899	T	0.0937693102262375	0.11658	T	0.825917	0.49290	T	0.12891804	0.30125	0.158434	0.36999	0.1325611	0.30863	0.18357684	0.41355	-4.712	0.33549	T	.	.	0.087	0.11124	B	.;.	.;.	4.516199	0.70766	25.6	0.9954740962009726	0.70898	0.98472	0.83137	D	AEFBI	0.851958	0.76885	D	0.461041065819955	0.64832	4.74687	0.475819197424425	0.66391	4.946012	0.999977619458591	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.800000	0.84516	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.0:0.8537:0.1463	14.536	0.67551	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	3285.33	127	chr4	125450461	.	G	A	3285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=2608;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.57;SOR=0.618	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr4	125491292	125491292	T	C	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon18:c.T14473C:p.S4825P,FAT4:NM_001291303:exon18:c.T14476C:p.S4826P,FAT4:NM_024582:exon18:c.T14470C:p.S4824P	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.14300129693	7.7e-05	.	4.14e-05	0	0	0	0	3.009e-05	0	0.0002	3.23e-05	5	154602	rs374891029	1.642e-05	1.642e-05	8.167e-06	2.475e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.892e-06	0	9.275e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0032	4.41e-05	0	0	0.147	0.24955	T	0.0	0.92824	D	0.998	0.77913	D	0.991	0.84481	D	0.004019	0.34221	U	0.000000	0.999996	0.58761	D	0.805	0.20218	L	-0.94	0.77466	T	-1.12	0.42763	N	0.639	0.67218	-0.0170	0.81901	T	0.535	0.82815	D	10	0.6524658	0.69682	D	0.143001	0.82535	D	0.456	0.75483	.	.	0.612969470845	0.60985	0.3586622134079033	0.35780	0.725430536437	0.62450	0.815147519112	0.84282	D	0.063491	0.32189	T	0.0472431	0.57987	T	0.0327389	0.72456	D	0.671830654144287	0.39419	D	0.873813	0.58316	D	0.39394388	0.60311	0.24369691	0.49819	0.39394388	0.60311	0.24369691	0.49818	-2.516	0.06375	T	.	.	0.421	0.60714	A	.;.	.;.	3.975509	0.58407	24.0	0.989160715666068	0.48472	0.99539	0.97221	D	AEFBI	0.932667	0.92336	D	0.528027294069736	0.68753	5.260858	0.491649972465575	0.67436	5.083727	0.99977195124619	0.42865	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.97	4.97	0.65419	7.487000	0.80243	5.809000	0.49993	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:0.0:1.0	13.865	0.63082	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1411.33	72	chr4	125491292	.	T	C	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.812;DP=1440;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.654;SOR=0.54	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,119,1611	18	0	1	0
chr4	127687772	127687772	G	A	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon8:c.G1354A:p.A452T	.	426	1082	13	1	0	15	0.00688389	.	.	.	496110	not_specified|INTU-related_disorder|Growth_delay|Nephronophthisis|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00553893462461	0.0016	0.00219649	0.0030	0.0003	0.0007	0	0.0011	0.0026	0.0044	0.0099	0.002846	440	154602	rs150681845	0.0024	0.0025	0.0022	0.0027	0.0096	0.0024	0.0024	0.0091	0.0088	0.0002	0.0010	0.0015	0	0.0012	0.0059	0.0022	0.0028	0.0096	0.0019	0.0019	0.0018	0.0020	0.0077	0.0017	0.0016	0.0057	0.0050	0.0003	0	0.0042	0.0029	0	0.0009	0.0068	0.0022	0.0005	0.0077	0.224	0.18691	T	0.581	0.08476	T	0.145	0.27759	B	0.022	0.19653	B	0.224482	0.16061	N	0.617470	1	0.08975	N	1.495	0.37439	L	1.69	0.27032	T	-0.35	0.12847	N	0.136	0.13341	-1.0237	0.22508	T	0.030	0.13023	T	10	0.004006952	0.00077	T	0.005539	0.14288	T	0.007	0.00512	.	.	0.0806252709748	0.07271	0.5336723275441648	0.53292	0.108671175235	0.12253	0.347697496414	0.17582	T	0.211077	0.57175	T	-0.65973	0.00063	T	-0.714036	0.05089	T	0.00120420442747127	0.00012	T	0.560744	0.19617	T	0.023815487	0.01154	0.0425284	0.05086	0.02347175	0.01090	0.040840775	0.04505	-3.489	0.16278	T	0.14641918434712936	0.16887	0.068	0.02894	B	.	.	0.568383	0.09367	6.149	0.87625570800187447	0.17363	0.06520	0.12531	N	AEFBIJ	0.038733	0.05523	N	-1.2388396984353	0.04448	0.2007873	-1.23549003762553	0.05349	0.2546582	0.997694107069416	0.35915	0.615465	0.37627	0	0.563428	0.19063	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.01	1.29	0.20717	0.019000	0.13337	0.523000	0.19181	-1.585000	0.00913	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.2914:0.1343:0.5743:0.0	6.222	0.19899	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	425.33	34	chr4	127687772	.	G	A	425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=673;ExcessHet=0;FS=6.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.618;SOR=1.73	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1403	18	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.38	34	chr4	127704250	.	G	C	53.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.091;DP=866;ExcessHet=0;FS=313.484;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.184;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,999:.	18	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	332.36	30	chr4	127704251	.	G	C	332.36	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-2.31;DP=979;ExcessHet=1.3;FS=250.412;InbreedingCoeff=-0.1783;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.241;SOR=10.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,21:63:31:.:.:31,0,625:.	12	0	5	2
chr4	127886242	127886242	C	T	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.C776T:p.S259F,PLK4:NM_001190801:exon5:c.C749T:p.S250F,PLK4:NM_014264:exon5:c.C872T:p.S291F	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.0559429169374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-0.38	0.70833	T	-3.93	0.74051	D	0.751	0.75466	0.103	0.84230	D	0.548	0.83407	D	10	0.72181326	0.73712	D	0.055943	0.66422	D	0.525	0.79886	0.384	0.40298	0.643531025102	0.64059	0.6098644453731018	0.60918	0.507136100597	0.48901	0.614696383476	0.54980	T	0.410404	0.76515	T	0.231202	0.76834	D	0.0943294	0.76532	D	0.978559561154173	0.72384	D	0.945205	0.79148	D	0.6484798	0.75283	0.62378025	0.78075	0.6484798	0.75284	0.62378025	0.78076	-8.794	0.66798	D	.	.	0.567	0.76389	P	.;.;.;.;.	.;.;.;.;.	4.840516	0.79023	27.0	0.99854661062785532	0.93368	0.97253	0.73599	D	AEFDBCI	0.817531	0.73900	D	0.852157872899323	0.89230	9.887	0.835433430619141	0.92136	11.256	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.174000	0.77176	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.947	0.97187	838	0.37812	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1679.33	42	chr4	127886242	.	C	T	1679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.624;DP=948;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.037;SOR=0.615	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1093	18	0	1	0
chr4	127886682	127886682	T	C	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.T1216C:p.S406P,PLK4:NM_001190801:exon5:c.T1189C:p.S397P,PLK4:NM_014264:exon5:c.T1312C:p.S438P	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	989915	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.0102757050728	.	.	1.711e-05	0	0	0	0	3.093e-05	0	0	1.94e-05	3	154602	rs751170471	7.537e-06	7.525e-06	5.454e-06	9.641e-06	0.0003	4.05e-06	2.96e-06	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	3.601e-06	3.317e-05	3.492e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25979	T	0.294	0.25135	T	0.016	0.22967	B	0.007	0.24676	B	0.010693	0.29823	N	0.380726	1	0.08975	N	1.87	0.49600	L	0.73	0.50721	T	-0.13	0.22078	N	0.331	0.40264	-1.0191	0.24008	T	0.098	0.36780	T	10	0.07208517	0.10714	T	0.010276	0.26632	T	0.024	0.04979	0.198	0.11110	0.223474106383	0.21959	0.13405710952651795	0.13329	0.120451408447	0.13563	0.307452023029	0.11522	T	0.065182	0.32625	T	-0.304681	0.08224	T	-0.5748	0.15011	T	0.0508592299645482	0.05651	T	0.666133	0.27528	T	0.06974134	0.15305	0.069883205	0.14781	0.06974134	0.15304	0.069883205	0.14780	-4.171	0.26795	T	.	.	0.064	0.12181	B	.;.;.;.	.;.;.;.	1.208990	0.16017	12.26	0.80098439835172708	0.13044	0.23117	0.21971	N	AEFDBCI	0.090214	0.18281	N	-0.950658467266538	0.09678	0.4590869	-1.00529940486476	0.09668	0.4823516	0.999911848867231	0.45857	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.631177	0.49321	0	.	.	4.99	-0.372	0.11897	0.808000	0.26813	0.411000	0.18111	-0.194000	0.09177	0.004000	0.16614	0.000000	0.08366	0.104000	0.18471	0.0:0.2324:0.2945:0.4731	4.919	0.13213	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1440.33	42	chr4	127886682	.	T	C	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.901;DP=847;ExcessHet=0;FS=5.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.445;SOR=0.338	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1093	18	0	1	0
chr4	128011984	128011984	-	T	exonic	ABHD18	.	frameshift insertion	ABHD18:NM_001366038:exon8:c.17dupT:p.L10Ffs*74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs747637430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0084	0.0078	0.0073	0.0212	0.0072	0.0071	0.0200	0.0196	0.0212	0	0.0057	0.0030	0.0010	0.0035	0.0147	0.0017	0.0066	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	36.59	.	chr4	128011984	.	C	CT	36.59	.	AC=2;AF=0.067;AN=30;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.2822;MLEAC=2;MLEAF=0.067;MQ=60;QD=18.3;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	14	1	0	4
chr4	128098265	128098265	A	G	exonic	LARP1B	.	nonsynonymous SNV	LARP1B:NM_001350531:exon6:c.A25G:p.I9V,LARP1B:NM_001278604:exon8:c.A748G:p.I250V,LARP1B:NM_018078:exon8:c.A748G:p.I250V,LARP1B:NM_032239:exon8:c.A748G:p.I250V,LARP1B:NM_178043:exon8:c.A748G:p.I250V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00649217933366	0.0002	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs146471609	1.437e-05	1.436e-05	1.77e-05	1.1e-05	0.0003	9.23e-06	7.84e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	3.598e-06	4.968e-05	3.479e-05	7.888e-05	7.881e-05	8.995e-05	6.728e-05	0.0003	4.498e-05	3.513e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.237	0.26629	T	0.513	0.30926	T	0.072	0.23997	B	0.122	0.32387	B	0.000061	0.52346	D	0.123056	0.577198	0.81001	D	0.425	0.12573	N	0.72	0.50976	T	-0.5	0.20145	N	0.179	0.20528	-1.0376	0.18048	T	0.115	0.40831	T	10	0.13647717	0.25966	T	0.006492	0.17100	T	0.076	0.22200	.	.	0.489036454283	0.48535	0.3003858946819377	0.29951	0.143643508487	0.16218	0.431061774492	0.29354	T	0.007807	0.18667	T	-0.357136	0.04294	T	-0.396744	0.33764	T	0.0232422360577159	0.01052	T	0.860314	0.55333	D	0.020693783	0.00637	0.038792413	0.03827	0.020693783	0.00637	0.038792413	0.03827	-4.797	0.46836	T	.	.	0.071	0.09094	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.020278	0.25676	16.85	0.91182346206778198	0.20437	0.83658	0.42761	D	AEFBI	0.217430	0.34255	N	-0.194938259211903	0.33345	1.890707	-0.129893653544198	0.34191	1.964024	9.27277229605784E-4	0.08013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.1	0.47196	2.314000	0.43403	2.405000	0.32612	-0.055000	0.16736	1.000000	0.71638	0.870000	0.27582	0.871000	0.41478	0.7734:0.1502:0.0764:0.0	6.916	0.23542	848	0.35897	La-type HTH domain|La-type HTH domain|La-type HTH domain;La-type HTH domain|La-type HTH domain|La-type HTH domain;La-type HTH domain|La-type HTH domain|La-type HTH domain;.;La-type HTH domain|La-type HTH domain|La-type HTH domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	35	chr4	128098265	.	A	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.527;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.24;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1446	18	0	1	0
chr4	128884536	128884536	T	C	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon21:c.A2008G:p.S670G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00657702484437	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976235764	1.389e-06	1.163e-05	1.385e-06	1.394e-06	9.147e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.147e-07	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.072	0.43344	T	0.849	0.46879	P	0.392	0.44215	B	0.000370	0.45194	D	0.252732	0.992395	0.41633	D	1.155	0.29575	L	0.74	0.50459	T	-1.75	0.41428	N	0.344	0.43029	-1.0265	0.21593	T	0.093	0.35309	T	9	0.23476425	0.40523	T	0.006577	0.17358	T	0.074	0.21613	0.179	0.08626	0.695801595872	0.69317	0.19419958244570984	0.19337	0.367028223889	0.38272	0.61231803894	0.54644	T	0.036288	0.24046	T	-0.0671418	0.41784	T	-0.334221	0.40997	T	0.872503697872162	0.52238	D	0.725927	0.36078	T	0.14101472	0.32510	0.119007714	0.28726	0.14101472	0.32510	0.119007714	0.28725	-5.761	0.44233	T	.	.	0.096	0.20819	B	.;.;.	.;.;.	3.429757	0.47660	22.5	0.98280664634578097	0.39852	0.92185	0.55134	D	AEFBI	0.670702	0.63770	D	0.145825154376261	0.48613	3.071563	0.246728857743297	0.52464	3.420999	0.999752577709691	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.73	4.73	0.59485	4.517000	0.60221	3.883000	0.40251	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	12.248	0.53896	432	0.80690	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	569.33	35	chr4	128884536	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.321;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	18	0	1	0
chr4	128959662	128959662	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G985C:p.A329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0271346558209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.052e-06	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.89	0.83701	M	2.91	0.10008	T	-2.83	0.59710	D	0.898	0.89800	-1.1254	0.02016	T	0.084	0.32872	T	9	0.78856647	0.78460	D	0.027135	0.49983	D	0.238	0.54217	0.274	0.22528	0.546693616777	0.54325	0.751990389580637	0.75146	0.460371396877	0.45595	0.490226864815	0.37469	T	0.433536	0.78093	T	0.196568	0.73572	D	0.04458	0.73228	D	0.985214054584503	0.76274	D	0.80302	0.45008	T	0.81712574	0.85026	0.7704095	0.86444	0.81712574	0.85028	0.7704095	0.86445	-15.801	0.97448	D	.	.	0.912	0.83630	P	.	.	3.845978	0.55678	23.6	0.99800040371157073	0.88461	0.95766	0.66063	D	AEFBI	0.751646	0.69239	D	0.530553789898404	0.68905	5.282067	0.462705299233699	0.65537	4.836318	0.999999780221931	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.803000	0.68791	5.745000	0.49595	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	18.047	0.89261	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	65.59	70	chr4	128959662	.	C	G	65.59	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.127;DP=1340;ExcessHet=0;FS=99.707;InbreedingCoeff=-0.073;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.18;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:69:.:.:0,69,1438:.	15	0	1	3
chr4	128959663	128959663	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G984C:p.E328D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00680759020067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.136	0.34009	T	0.085	0.24868	B	0.074	0.28220	B	0.000007	0.62929	D	0.105878	0.998181	0.81001	D	2.11	0.58565	M	3.0	0.09167	T	-1.1	0.28497	N	0.081	0.05670	-1.0248	0.22148	T	0.023	0.09650	T	9	0.04894221	0.04413	T	0.006808	0.18010	T	0.067	0.19503	0.342	0.33464	0.32580497728	0.32196	0.0783725683417193	0.07773	0.237752420551	0.26321	0.414651274681	0.27100	T	0.028078	0.20418	T	-0.298842	0.08770	T	-0.667042	0.07799	T	0.358061403036118	0.27333	T	0.678032	0.28700	T	0.069728285	0.15302	0.06307916	0.12441	0.069728285	0.15301	0.06307916	0.12441	-3.703	0.19363	T	.	.	0.122	0.25429	B	.	.	0.508506	0.08773	5.551	0.98789090798183143	0.46253	0.58481	0.30653	D	AEFBI	0.120065	0.23406	N	-0.476882436029218	0.22841	1.222388	-0.433494643259965	0.24021	1.313097	0.277278108199118	0.18952	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	1.14	0.19817	0.372000	0.20199	0.053000	0.14027	0.549000	0.26987	0.999000	0.42656	0.959000	0.29258	0.011000	0.09372	0.2474:0.1746:0.0:0.578	4.321	0.10457	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	64.33	44	chr4	128959663	.	C	G	64.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.838;DP=1234;ExcessHet=0;FS=99.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.46;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:53:.:.:0,53,1309:.	18	0	1	0
chr4	133152591	133152591	G	T	exonic	PCDH10	.	nonsynonymous SNV	PCDH10:NM_020815:exon1:c.G2451T:p.Q817H,PCDH10:NM_032961:exon1:c.G2451T:p.Q817H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3374955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0170323834744	7.7e-05	0.000199681	9.894e-05	0	0	0	0	0.0002	0	6.059e-05	9.06e-05	14	154602	rs201300041	5.336e-05	5.336e-05	4.356e-05	6.325e-05	0.0003	4.344e-05	4.017e-05	6.092e-05	3.49e-05	0	2.236e-05	3.826e-05	0	9.362e-05	0.0003	4.946e-05	0.0001	6.956e-05	4.597e-05	4.593e-05	6.425e-05	2.687e-05	0.0002	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.015	0.52492	D	0.023	0.57104	D	0.996	0.68779	D	0.986	0.76916	D	0.000640	0.42799	D	0.000000	0.999987	0.54805	D	2.485	0.72352	M	0.66	0.52416	T	-2.48	0.54059	N	0.332	0.46368	-0.7195	0.59488	T	0.196	0.55013	T	10	0.167294	0.31216	T	0.017032	0.38558	T	0.132	0.35948	0.46	0.52753	0.665728406546	0.66292	0.7006729739289805	0.70008	.	.	0.691704034805	0.65951	T	0.294959	0.66763	T	-0.200137	0.20785	T	-0.288591	0.45920	T	0.244012707860866	0.22602	T	0.837416	0.50983	T	0.28563133	0.51584	0.22452395	0.47368	0.28563133	0.51583	0.22452395	0.47367	-5.906	0.47403	T	.	.	0.480	0.63651	A	.;.	.;.	3.811237	0.54975	23.6	0.99300653447301923	0.58613	0.92215	0.55202	D	AEFDBHCI	0.823431	0.74354	D	0.335579680346145	0.57983	3.968088	0.416539213403462	0.62594	4.477574	0.999999993626258	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.01	4.1	0.47196	6.317000	0.72825	9.827000	0.81838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1478:0.8522:0.0	14.476	0.67125	970	0.06235	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	6855.81	53	chr4	133152591	.	G	T	6855.81	.	AC=2;AF=0.053;AN=38;DP=1000;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.19;SOR=0.954	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	1	0	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/0:55,0:55:62:0,62,938	9	0	6	4
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L,PABPC4L:NM_001363585:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	413.71	163	chr4	134200395	.	C	G	413.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.093;DP=2327;ExcessHet=0;FS=309.42;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=2.96;SOR=8.713	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	17	0	1	1
chr4	134200856	134200856	T	C	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.A164G:p.Y55C,PABPC4L:NM_001363585:exon2:c.A164G:p.Y55C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0509376931297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481470122	2.115e-06	3.42e-06	4.181e-06	0	1.242e-05	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.835e-06	0	1.242e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999955	0.52396	D	3.18	0.88827	M	2.27	0.17431	T	.	.	.	0.848	0.84401	.	.	.	.	.	.	.	0.83645254	0.82801	D	0.050938	0.64450	D	.	.	.	.	0.596316647014	0.59311	0.8885460742870742	0.88823	.	.	0.700786590576	0.67257	T	0.127623	0.45476	T	0.220846	0.75856	D	0.079453	0.75542	D	.	.	.	0.89771	0.64209	D	0.14524524	0.33303	0.29887694	0.55921	0.14524524	0.33302	0.29887694	0.55921	-8.865	0.66823	D	.	.	0.887	0.81889	P	.	.	4.839504	0.78995	27.0	0.9771880501354222	0.35543	0.81959	0.41263	D	AEFDBCI	0.794195	0.72197	D	.	.	.	.	.	.	0.999999994761567	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.554799	0.18163	0	.	.	3.8	3.8	0.42887	6.033000	0.70569	6.045000	0.53046	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	11.197	0.47945	920	0.19381	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2638.33	40	chr4	134200856	.	T	C	2638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.8;DP=1033;ExcessHet=0;FS=9.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.761;SOR=0.535	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.07895	10495.8	33	chr4	137530243	.	G	A	10495.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1355;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.135;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1264	16	0	3	0
chr4	138223241	138223241	T	C	exonic	SLC7A11	.	nonsynonymous SNV	SLC7A11:NM_014331:exon4:c.A604G:p.I202V	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0080	0.00439297	0.0089	0.0014	0.0055	0	0.0070	0.0131	0.0088	0.0042	0.0086804	1342	154602	rs111500641	0.0097	0.0097	0.0096	0.0098	0.0114	0.0096	0.0095	0.0102	0.0102	0.0010	0.0061	0.0345	2.52e-05	0.0065	0.0114	0.0104	0.0104	0.0042	0.0078	0.0078	0.0082	0.0074	0.0109	0.0074	0.0073	0.0102	0.0100	0.0017	0	0.0081	0.0383	0	0.0062	0.0238	0.0109	0.0099	0.0048	0.002	0.72154	D	0.006	0.70582	D	0.418	0.35279	B	0.304	0.41178	B	0.000004	0.62929	D	0.078407	0.999564	0.47592	D	1.21	0.30464	L	-2.68	0.90391	D	-0.97	0.25770	N	0.802	0.79792	0.041	0.83065	D	0.481	0.80175	T	10	0.010551393	0.00234	T	.	.	.	0.406	0.71869	.	.	0.687896883233	0.68522	0.5049593626412712	0.50417	0.281763093226	0.30648	0.63954025507	0.58498	T	0.454831	0.79422	T	-0.189567	0.22322	T	-0.0346882	0.68056	D	0.0264413687447743	0.01466	T	0.884712	0.60854	D	0.3489142	0.56982	0.28546408	0.54549	0.3489142	0.56982	0.28546408	0.54548	-4.733	0.33801	T	.	.	0.125	0.26482	B	.	.	3.174172	0.43060	21.7	0.99684746465731477	0.79507	0.92448	0.55735	D	AEFDBCIJ	0.650362	0.62450	D	0.223736691890772	0.52351	3.409849	0.353894292728746	0.58743	4.04672	0.999999999991661	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	6.696000	0.74423	7.671000	0.64778	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.726	0.77519	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.010101	0.008152	0.002924	0.000000	0.008621	0.018293	0.007576	0.02632	1246.33	34	chr4	138223241	.	T	C	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.307;DP=721;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.29;SOR=0.488	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr4	139059533	139059533	T	C	exonic	ELF2	.	nonsynonymous SNV	ELF2:NM_001276457:exon6:c.A965G:p.Q322R,ELF2:NM_001276459:exon6:c.A929G:p.Q310R,ELF2:NM_001276458:exon7:c.A1016G:p.Q339R,ELF2:NM_006874:exon7:c.A1052G:p.Q351R,ELF2:NM_001371336:exon9:c.A1145G:p.Q382R,ELF2:NM_001331036:exon10:c.A1232G:p.Q411R,ELF2:NM_001371338:exon10:c.A833G:p.Q278R,ELF2:NM_001371339:exon10:c.A797G:p.Q266R,ELF2:NM_201999:exon10:c.A1196G:p.Q399R,ELF2:NM_001371324:exon11:c.A1196G:p.Q399R,ELF2:NM_001371337:exon11:c.A884G:p.Q295R	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0119621359016	0.0002	0.000199681	0.0004	9.664e-05	0.0002	0	0.0005	0.0006	0	0	0.0004204	65	154602	rs143283803	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	5.975e-05	0.0002	0.0005	0	0.0011	0.0009	0.0007	0.0010	4.638e-05	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0007	0.0002	0	0.0006	0.0006	0	0.0008	0	0.0009	0.0014	0	0.004	0.72154	D	0.124	0.36630	T	0.996	0.68779	D	0.986	0.76916	D	0.000001	0.62929	D	0.100025	0.99996	0.52935	D	2.28	0.64929	M	2.43	0.18248	T	-2.25	0.51478	N	0.598	0.65330	-1.1236	0.02116	T	0.078	0.31133	T	9	0.107719004	0.20022	T	0.011962	0.30096	T	0.165	0.42395	.	.	0.458486717628	0.45474	0.7956683238637733	0.79519	1.03432331346	0.75527	0.743468403816	0.73482	T	0.155552	0.49733	T	-0.235552	0.15921	T	-0.161571	0.58210	T	0.085759311914444	0.10707	T	0.958404	0.84340	D	0.39088526	0.60095	0.44864988	0.67902	0.39088526	0.60095	0.44864988	0.67903	-6.781	0.56174	T	0.4165673867022491	0.50599	0.408	0.61434	A	.;.;.;.;.	.;.;.;.;.	4.541042	0.71374	25.7	0.99733917155424012	0.82975	0.99302	0.94196	D	AEFBI	0.746095	0.68857	D	0.496077510597332	0.66861	5.00517	0.547540418748856	0.71224	5.622669	0.999999995804373	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	4.430000	0.59654	7.944000	0.75617	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.778	0.78011	653	0.62661	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	908.33	34	chr4	139059533	.	T	C	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=717;ExcessHet=0;FS=3.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=0.192;QD=9.98;ReadPosRankSum=-1.183;SOR=1.133	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1407	18	0	1	0
chr4	139889929	139889930	GC	0	exonic	MAML3	.	.	.	.	347	263	251	659	2	1571	0.748926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68586.8	146	chr4	139889929	.	GC	*	68586.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.877;DP=2589;ExcessHet=8.9063;FS=0.59;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0;QD=28.06;ReadPosRankSum=0.071;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:130:99:1|1:139889929_GC_G:5576,5274,5377:139889929	18	0	1	0
chr4	139889931	139889942	TGCTGCTGCTGC	0	exonic	MAML3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	67721.1	137	chr4	139889931	.	TGCTGCTGCTGC	*	67721.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=2624;ExcessHet=8.9063;FS=1.221;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=0;QD=27.77;ReadPosRankSum=0.464;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,2:114:99:1|1:139889929_GC_G:5600,4784,4999:139889929	18	0	1	0
chr4	140373679	140373679	C	T	exonic	SCOC	.	nonsynonymous SNV	SCOC:NM_001153663:exon1:c.C143T:p.S48L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0134189218132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332241568	3.575e-06	4.104e-06	1.411e-06	5.799e-06	4.634e-06	1.05e-06	7.6e-07	1.36e-06	9.9e-07	0	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.74150	D	0.979	0.59044	D	0.559	0.49531	P	0.260287	0.03704	N	1.549330	1	0.81001	D	1.04	0.26193	L	.	.	.	-2.02	0.46503	N	0.239	0.31253	-0.9337	0.43590	T	0.169	0.50987	T	9	0.14923108	0.28247	T	0.013419	0.32810	T	0.116	0.32463	0.225	0.14960	0.0806252709748	0.07271	0.2534142870020742	0.25255	1.12619037712	0.78463	.	.	.	0.014655	0.12435	T	-0.0430473	0.45494	T	-0.284125	0.46379	T	0.808188259601593	0.46919	D	0.657934	0.26930	T	0.16417074	0.36607	0.2771591	0.53666	0.16417074	0.36606	0.2771591	0.53665	-3.574	0.17482	T	.	.	0.088	0.16973	B	.;.;.	.;.;.	1.140137	0.15271	11.72	0.87410322244417504	0.17207	0.34269	0.25027	N	ALL	0.212553	0.33822	N	-0.178977643759795	0.34011	1.936202	-0.265012588975464	0.29260	1.63785	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.17	5.17	0.70848	1.340000	0.33501	-0.424000	0.09265	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	14.530	0.67507	403	0.82567	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1973.33	34	chr4	140373679	.	C	T	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=808;ExcessHet=0;FS=3.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=0.269;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	18	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,32:112:99:.:.:497,0,2458:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,32:108:99:.:.:509,0,2413:.	1	0	18	0
chr4	140911162	140911162	C	T	exonic	RNF150	.	nonsynonymous SNV	RNF150:NM_020724:exon6:c.G1180A:p.V394I	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0049	0.00738818	0.0026	0.0161	0.0046	0.0005	0	0.0014	0.0011	6.102e-05	0.0026261	406	154602	rs115535556	0.0017	0.0018	0.0019	0.0016	0.0168	0.0017	0.0017	0.0156	0.0152	0.0168	0.0054	0.0029	0.0004	0	0.0102	0.0012	0.0035	9.278e-05	0.0061	0.0062	0.0063	0.0059	0.0168	0.0058	0.0057	0.0157	0.0153	0.0168	0	0.0078	0.0017	0	0	0.0102	0.0013	0.0085	0.0004	1.0	0.00964	T	0.373	0.16328	T	0.0	0.20732	B	0.001	0.12133	B	0.272632	0.03782	N	1.525080	1	0.08975	N	0.405	0.12330	N	3.55	0.14284	T	-0.14	0.10480	N	0.112	0.12913	-0.9756	0.35993	T	0.013	0.05033	T	10	0.0028297007	0.00045	T	.	.	.	0.062	0.17934	.	.	0.185906805712	0.18197	0.07919257835987145	0.07854	0.450640784615	0.44831	0.372542649508	0.21196	T	0.004168	0.03581	T	-0.66909	0.00056	T	-0.720252	0.04784	T	0.00483143045401824	0.00052	T	0.724428	0.33821	T	0.03547084	0.04181	0.032230046	0.01925	0.03547084	0.04181	0.032230046	0.01925	-3.814	0.21014	T	.	.	0.064	0.05447	B	.;.;.;.;.	.;.;.;.;.	0.808932	0.11799	8.370	0.3706565689457415	0.02420	0.02301	0.06614	N	AEFBI	0.049390	0.08528	N	-0.842702599188035	0.12229	0.5948706	-0.800489534251274	0.14484	0.7569937	9.52744897082547E-5	0.04910	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.21	0.362	0.15348	0.132000	0.15716	0.241000	0.16308	0.599000	0.40250	0.001000	0.13787	0.005000	0.19230	0.938000	0.47775	0.0:0.5568:0.0:0.4432	9.640	0.38998	954	0.10045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.126263	0.020380	0.011696	0.000000	0.008621	0.000000	0.000000	0.05263	2587.83	35	chr4	140911162	.	C	T	2587.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.65;DP=857;ExcessHet=0.119;FS=2.177;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.148;SOR=0.551	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	17	0	2	0
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V,USP38:NM_032557:exon9:c.A2896G:p.I966V,USP38:NM_001290326:exon10:c.A1531G:p.I511V	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.026946	0.000000	0.000000	0.000000	0.003788	0.02632	1384.33	73	chr4	143214872	.	A	G	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.356;DP=1253;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.91;SOR=0.97	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr4	143624338	143624338	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon4:c.G5423A:p.S1808N	.	.	.	.	.	.	.	.	0.0579	0.29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271234734	5.118e-06	4.79e-06	4.336e-06	5.918e-06	3.812e-05	2.13e-06	1.37e-06	1.012e-05	4.81e-06	0	2.817e-05	0	0	0	0	1.88e-06	1.744e-05	3.812e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.15	0.32461	T	.	.	.	.	.	.	0.000038	0.55875	U	0.116075	0.999869	0.50061	D	2.47	0.71715	M	1.53	0.30401	T	-1.72	0.40850	N	0.258	0.29197	-1.1057	0.03467	T	0.076	0.30429	T	8	0.31415027	0.48859	T	0.007896	0.20955	T	0.048	0.13305	0.59	0.71874	0.415947407303	0.41207	0.36113444459889427	0.36027	.	.	0.394913613796	0.24359	T	0.003494	0.02899	T	-0.362193	0.04008	T	-0.630263	0.10395	T	0.570353627204895	0.35248	D	0.826217	0.48957	T	0.18150899	0.39325	0.1678141	0.38693	0.18150899	0.39324	0.1678141	0.38693	-5.786	0.44452	T	.	.	0.119	0.24396	B	.	.	2.693050	0.35159	19.82	0.9888542077026321	0.47895	0.83319	0.42446	D	AEFBI	0.451145	0.50524	N	0.280421458973842	0.55156	3.679972	0.219111162507489	0.50906	3.278086	0.00198276091105326	0.09061	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.07	2.24	0.27264	2.296000	0.43245	1.052000	0.23646	0.599000	0.40250	1.000000	0.71638	0.790000	0.26855	0.909000	0.44452	0.0:0.7508:0.1566:0.0926	8.356	0.31493	840	0.37365	Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	487.33	34	chr4	143624338	.	C	T	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.823;DP=683;ExcessHet=0;FS=3.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.19;SOR=1.755	GT:AD:DP:GQ:PL	0/0:36,0:36:84:0,84,1260	18	0	1	0
chr4	143699849	143699849	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G827A:p.G276D	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0048	0.00379393	0.0027	0.0164	0.0051	0.0046	0.0021	0.0002	0	0.0022	0.0005821	90	154602	rs149219650	0.0009	0.0009	0.0009	0.0009	0.0148	0.0009	0.0008	0.0137	0.0133	0.0148	0.0012	0	0	0.0006	0.0091	0.0004	0.0015	0.0020	0.0043	0.0043	0.0044	0.0042	0.0140	0.0041	0.0039	0.0130	0.0126	0.0140	0	0.0017	0	0	0.0008	0.0034	0.0005	0.0038	0.0008	0.274	0.15823	T	0.442	0.13252	T	.	.	.	.	.	.	0.415924	0.04619	N	1.523810	1	0.08975	N	0.635	0.15989	N	2.09	0.20122	T	-1.34	0.33401	N	0.039	0.01274	-1.0169	0.24722	T	0.014	0.05513	T	8	0.003322959	0.00057	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	0.48528482341388735	0.48448	.	.	0.400290727615	0.25109	T	0.004599	0.04008	T	-0.698169	0.00037	T	-0.763971	0.02972	T	0.00202375306204244	0.00021	T	0.256074	0.03980	T	0.058401812	0.11744	0.10194784	0.24420	0.058401812	0.11744	0.10194784	0.24419	-4.535	0.31344	T	.	.	0.065	0.01810	B	.	.	0.253005	0.06321	2.781	0.76798391799292676	0.11613	0.03969	0.09378	N	AEFBCI	0.047292	0.07948	N	-1.0443728789965	0.07699	0.3585176	-1.19809405267896	0.05942	0.2845646	0.999024258173435	0.38237	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.05	-2.96	0.05212	1.251000	0.32465	-1.195000	0.06058	-0.176000	0.10722	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2833:0.2957:0.421	5.010	0.13647	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003883	0.000000	0.016393	0.010000	0.000000	0.000000	0.000000	0.000000	0.02632	1095.33	87	chr4	143699849	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.482;DP=1210;ExcessHet=0;FS=5.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=2.54;SOR=0.625	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr4	145680362	145680362	-	A	exonic	C4orf51	.	frameshift insertion	C4orf51:NM_001080531:exon1:c.160dupA:p.Q56Tfs*13	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00219649	0.0015	0.0101	0.0012	0.0010	0	0.0009	0	6.059e-05	0.0004995	13	26028	rs527501209	0.0011	0.0011	0.0011	0.0011	0.0095	0.0011	0.0011	0.0086	0.0083	0.0095	0.0017	0.0010	0.0012	7.491e-05	0.0055	0.0009	0.0015	0.0002	0.0033	0.0033	0.0033	0.0034	0.0085	0.0031	0.0030	0.0077	0.0075	0.0085	0	0.0049	0.0009	0.0004	9.438e-05	0	0.0010	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005539	0.015152	0.005435	0.005848	0.000000	0.017241	0.003049	0.000000	0.02632	1271.29	35	chr4	145680362	.	G	GA	1271.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.858;DP=763;ExcessHet=0;FS=4.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.325;SOR=1.128	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1285,0,1663	18	0	1	0
chr4	146442743	146442743	G	C	exonic	SLC10A7	.	nonsynonymous SNV	SLC10A7:NM_032128:exon5:c.C475G:p.L159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00886777179864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.233	0.26233	-1.0093	0.27136	T	0.052	0.21921	T	7	0.06724501	0.09342	T	0.008868	0.23390	T	0.027	0.05988	0.468	0.54052	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.274146	0.11299	T	-0.631568	0.10296	T	0.0675880426437943	0.08309	T	0.205079	0.02403	T	.	.	.	.	.	.	.	.	-3.603	0.17900	T	.	.	0.103	0.18289	B	.	.	0.034547	0.04527	1.223	0.53820714627003785	0.05014	0.07888	0.13878	N	AEFBCI	0.079812	0.16126	N	-1.18768939793637	0.05185	0.2357941	-1.28976330318613	0.04568	0.2157573	0.999850061185884	0.44174	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.05	-7.45	0.01229	0.658000	0.24662	1.343000	0.25751	-0.110000	0.15115	0.000000	0.06391	0.111000	0.22795	0.479000	0.28543	0.157:0.2028:0.4733:0.167	2.812	0.05111	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	895.33	34	chr4	146442743	.	G	C	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.156;DP=704;ExcessHet=0;FS=2.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.27;SOR=0.603	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1070	18	0	1	0
chr4	146903553	146903553	C	T	exonic	TTC29	.	nonsynonymous SNV	TTC29:NM_001317806:exon6:c.G577A:p.E193K,TTC29:NM_031956:exon6:c.G577A:p.E193K,TTC29:NM_001300761:exon7:c.G655A:p.E219K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.029033736749	.	.	1.752e-05	0	0	0	0	3.113e-05	0	0	1.94e-05	3	154602	rs774734375	4.74e-05	4.72e-05	4.646e-05	4.834e-05	6.131e-05	3.809e-05	3.49e-05	4.912e-05	4.495e-05	0	0	0	0	0	0	6.131e-05	0	1.176e-05	2.629e-05	2.627e-05	2.569e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.01	0.56456	D	0.01	0.65728	D	1.0	0.90584	D	0.977	0.81110	D	0.000083	0.51296	D	0.128109	0.97613	0.39866	D	2.545	0.74286	M	2.44	0.15145	T	-2.93	0.61284	D	0.689	0.76666	-1.0079	0.27572	T	0.121	0.42036	T	10	0.7004471	0.72410	D	0.029034	0.51617	D	0.191	0.46948	0.449	0.50957	0.601387495524	0.59820	0.6086231243265792	0.60794	0.0980478779435	0.11067	0.557942390442	0.46977	T	0.04142	0.25853	T	0.0479905	0.58084	T	-0.0356799	0.67990	D	0.97166246175766	0.69403	D	0.89841	0.65830	D	0.31808558	0.54478	0.29794925	0.55829	0.31808558	0.54478	0.29794925	0.55828	-6.006	0.46330	T	.	.	0.223	0.49196	B	.;.;.;.	.;.;.;.	5.155074	0.86359	28.9	0.99921312945301943	0.98787	0.86932	0.46326	D	AEFI	0.281401	0.39499	N	0.664781679253401	0.77329	6.653775	0.633974271813738	0.77422	6.676373	0.935214564645753	0.27204	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.62	5.62	0.85714	2.806000	0.47644	7.630000	0.62690	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	17.870	0.88724	888	0.27761	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1131.33	33	chr4	146903553	.	C	T	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.246;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	18	0	1	0
chr4	151147938	151147938	A	G	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon4:c.T1118C:p.L373P,SH3D19:NM_001378128:exon10:c.T1226C:p.L409P,SH3D19:NM_001378131:exon10:c.T1226C:p.L409P,SH3D19:NM_001009555:exon11:c.T1226C:p.L409P,SH3D19:NM_001128923:exon11:c.T1226C:p.L409P,SH3D19:NM_001243349:exon11:c.T1226C:p.L409P,SH3D19:NM_001378121:exon11:c.T2066C:p.L689P,SH3D19:NM_001378122:exon11:c.T2066C:p.L689P,SH3D19:NM_001378126:exon11:c.T1226C:p.L409P,SH3D19:NM_001378127:exon11:c.T1226C:p.L409P,SH3D19:NM_001378130:exon11:c.T1226C:p.L409P,SH3D19:NM_001378124:exon12:c.T1889C:p.L630P,SH3D19:NM_001378129:exon12:c.T1226C:p.L409P,SH3D19:NM_001378123:exon13:c.T1889C:p.L630P	.	437	1079	6	0	0	6	0.00277264	.	.	.	3199848	SH3D19-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.464	.	0.0006	0.0255591	0.0137	0.0012	0.0946	0.0536	0	0.0003	0.0079	0.0018	0.0128976	1994	154602	rs78397848	0.0048	0.0048	0.0052	0.0043	0.0831	0.0047	0.0046	0.0809	0.0800	0.0010	0.0831	0.0009	0.0660	1.874e-05	0.0017	0.0001	0.0049	0.0025	0.0093	0.0093	0.0077	0.0109	0.0638	0.0089	0.0087	0.0605	0.0592	0.0020	0	0.0638	0.0012	0.0578	0	0	0.0003	0.0057	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.916	0.50672	P	0.636	0.51948	P	0.410403	0.13004	N	0.640308	4.23628e-11	0.58761	P	2.485	0.72352	M	-1.39	0.80387	T	-3.75	0.74661	D	0.676	0.83678	-0.5355	0.67334	T	0.054	0.23034	T	9	0.010321617	0.00230	T	.	.	.	0.464	0.76023	.	.	.	.	0.5556463954193352	0.55491	0.631323549782	0.57095	0.621222496033	0.55902	T	0.309736	0.68174	T	-0.0153823	0.49507	T	0.279881	0.87121	D	0.0464229472110277	0.04861	T	0.872113	0.61284	D	0.7620676	0.81575	0.75503224	0.85522	0.7620676	0.81577	0.75503224	0.85523	-5.189	0.88098	T	.	.	0.971	0.89510	P	.;.;.;.;.;.	.;.;.;.;.;.	4.630760	0.73628	26.0	0.9989045637046472	0.96436	0.97687	0.76416	D	AEFBI	0.893724	0.83198	D	0.525854408803516	0.68622	5.242823	0.546660981267886	0.71165	5.613513	0.991753199793551	0.32597	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	6.381000	0.73094	11.210000	0.89365	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.931	0.70561	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	546.33	37	chr4	151147938	.	A	G	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=698;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.398;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	18	0	1	0
chr4	151174946	151174946	G	C	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon1:c.C418G:p.P140A,SH3D19:NM_001378128:exon6:c.C418G:p.P140A,SH3D19:NM_001378131:exon6:c.C418G:p.P140A,SH3D19:NM_001009555:exon7:c.C418G:p.P140A,SH3D19:NM_001128923:exon7:c.C418G:p.P140A,SH3D19:NM_001243349:exon7:c.C418G:p.P140A,SH3D19:NM_001378121:exon7:c.C1258G:p.P420A,SH3D19:NM_001378122:exon7:c.C1258G:p.P420A,SH3D19:NM_001378126:exon7:c.C418G:p.P140A,SH3D19:NM_001378127:exon7:c.C418G:p.P140A,SH3D19:NM_001378130:exon7:c.C418G:p.P140A,SH3D19:NM_001378124:exon8:c.C1081G:p.P361A,SH3D19:NM_001378129:exon8:c.C418G:p.P140A,SH3D19:NM_001378123:exon9:c.C1081G:p.P361A	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.016207777088	7.7e-05	.	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0008	0.0002975	46	154602	rs371516037	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	8.961e-05	8.944e-05	3.827e-05	0	1.872e-05	0.0031	0.0001	0.0004	0.0018	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0.0032	0.0002	0.0005	0.0006	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.001841	0.37892	N	0.189775	0.999511	0.47363	D	2.51	0.73131	M	3.43	0.05440	T	-2.5	0.64478	D	0.481	0.65245	-1.2279	0.00034	T	0.061	0.25419	T	10	0.095012814	0.16939	T	0.016208	0.37354	T	0.270	0.58507	.	.	0.62732496935	0.62428	0.20923431588654354	0.20839	0.501798849962	0.48557	0.438127875328	0.30322	T	0.174194	0.52333	T	-0.359645	0.04150	T	-0.295858	0.45159	T	0.112191508850573	0.13649	T	0.90031	0.65351	D	0.11249227	0.26575	0.18727976	0.41951	0.11249227	0.26575	0.18727976	0.41950	-8.044	0.62330	D	.	.	0.141	0.57230	B	.;.;.;.;.;.	.;.;.;.;.;.	4.459472	0.69394	25.4	0.99124700893051321	0.53089	0.98921	0.88653	D	AEFDBI	0.699642	0.65692	D	0.61308048670061	0.74000	6.059056	0.550264342014769	0.71414	5.651501	0.999999973650614	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.887000	0.75425	11.906000	0.99484	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.0:0.0:1.0:0.0	20.305	0.98628	602	0.67834	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.003788	0.05263	3716.83	35	chr4	151174946	.	G	C	3716.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=918;ExcessHet=0.119;FS=1.325;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.418;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	17	0	2	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H,SH3D19:NM_001378122:exon2:c.G116A:p.R39H	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1229.33	94	chr4	151226083	.	C	T	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=724;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=2.2;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	18	0	1	0
chr4	151577843	151577843	A	C	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon4:c.A499C:p.N167H,FAM160A1:NM_001109977:exon5:c.A499C:p.N167H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0194056914055	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867037082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.949	0.53761	P	0.833	0.59784	P	0.000001	0.62929	D	0.093224	0.999976	0.53665	D	2.11	0.58565	M	1.49	0.31470	T	-4.16	0.75375	D	0.563	0.58713	-0.8672	0.50739	T	0.172	0.51468	T	9	0.56592786	0.65049	D	0.019406	0.41765	T	0.393	0.70844	0.719	0.85408	0.162503812791	0.15892	0.4024894670177252	0.40164	.	.	0.505266308784	0.39561	T	0.038247	0.24771	T	-0.0645862	0.42186	T	-0.33055	0.41407	T	0.980512619018555	0.73401	D	0.706729	0.31713	T	0.65546244	0.75655	0.66456825	0.80335	0.65546244	0.75657	0.66456825	0.80336	-7.861	0.60119	D	.	.	0.087	0.12228	B	.;.	.;.	3.210896	0.43707	21.8	0.9958546785348652	0.73277	0.96212	0.68050	D	AEFBHCI	0.776860	0.70984	D	0.659445842598894	0.76982	6.587688	0.665073338768618	0.79739	7.146141	0.999999999752589	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.92	5.92	0.95557	6.039000	0.70611	9.390000	0.80573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	1.0:0.0:0.0:0.0	16.407	0.83522	303	0.87825	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1947.33	34	chr4	151577843	.	A	C	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=800;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.02;SOR=0.955	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr4	151649608	151649608	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon10:c.G1567A:p.A523T,FAM160A1:NM_001109977:exon11:c.G1567A:p.A523T	.	427	1094	1	0	0	1	0.00045683	.	.	.	2688228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0177636633461	0.0007	.	0.0002	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs375182034	4.859e-05	4.788e-05	5.076e-05	4.636e-05	0.0002	3.894e-05	3.563e-05	4.663e-05	4.238e-05	3.165e-05	0	0	2.798e-05	0	0.0002	5.839e-05	0	2.524e-05	8.543e-05	8.536e-05	7.708e-05	9.417e-05	0.0001	4.958e-05	3.963e-05	6.805e-05	5.088e-05	9.653e-05	0	0	0	0	0	0	0.0001	0	0	0.041	0.41915	D	0.01	0.65728	D	0.789	0.44570	P	0.217	0.37636	B	.	.	.	.	0.994521	0.42315	D	3.315	0.90654	M	2.5	0.14408	T	-2.73	0.58085	D	0.162	0.17002	-1.0752	0.08307	T	0.040	0.17234	T	9	0.15652588	0.29477	T	0.017764	0.39584	T	0.141	0.37795	.	.	0.0716867268079	0.06686	0.5659958648888554	0.56527	.	.	0.507851600647	0.39922	T	0.09197	0.38906	T	-0.282888	0.10364	T	-0.347933	0.39440	T	0.380149788991859	0.28188	T	0.974702	0.91007	D	0.10054045	0.23740	0.1800563	0.40779	0.10054045	0.23739	0.1800563	0.40779	-6.076	0.46911	T	.	.	0.123	0.27100	B	.;.	.;.	3.214485	0.43774	21.8	0.9987878434103552	0.95491	0.90512	0.51749	D	AEFDBHCIJ	0.518240	0.54402	D	0.262399199556831	0.54255	3.591534	0.283179944138395	0.54557	3.620338	0.999999988767911	0.74766	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.17	4.27	0.50009	4.535000	0.60341	4.483000	0.43541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.581000	0.30918	0.0:0.0:0.7298:0.2702	13.266	0.59564	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	7019.81	34	chr4	151649608	.	G	A	7019.81	.	AC=2;AF=0.053;AN=38;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.48;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1345	18	1	0	0
chr4	151662521	151662521	A	G	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon13:c.A2890G:p.R964G,FAM160A1:NM_001109977:exon14:c.A2890G:p.R964G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00899349808097	.	0.000599042	0.0003	0.0015	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs558029909	7.777e-05	7.524e-05	8.078e-05	7.466e-05	0.0017	6.577e-05	6.113e-05	0.0013	0.0012	0.0017	0.0004	0	0	0	0.0004	1.492e-05	0.0004	1.277e-05	0.0005	0.0005	0.0006	0.0004	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0005	0	0	0	0	5.88e-05	0	0	0.16	0.23721	T	0.235	0.24767	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.61	0.13095	T	-1.94	0.45042	N	0.09	0.07262	-0.9754	0.36037	T	0.020	0.08313	T	9	0.005207926	0.00113	T	0.008993	0.23678	T	0.017	0.02790	.	.	0.0806252709748	0.07271	0.356277386972651	0.35541	.	.	0.267464756966	0.05813	T	0.006362	0.05794	T	-0.613658	0.00120	T	-0.678881	0.07052	T	0.0254394490144433	0.01331	T	0.581942	0.21082	T	0.07291942	0.16257	0.072516896	0.15653	0.07291942	0.16257	0.072516896	0.15653	-3.072	0.10977	T	.	.	0.069	0.03736	B	.;.	.;.	1.993837	0.25335	16.72	0.97643219558490923	0.35091	0.03980	0.09394	N	AEFBI	0.053197	0.09565	N	-0.684720425061946	0.16457	0.8386324	-0.600222791457132	0.19487	1.045764	0.999582148524217	0.40607	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.35	-0.238	0.12411	0.608000	0.23921	3.161000	0.36568	-0.096000	0.16002	0.122000	0.23210	0.999000	0.35428	0.870000	0.41412	0.4456:0.0:0.2851:0.2693	3.766	0.08146	313	0.87327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001330	0.000000	0.007463	0.009009	0.000000	0.000000	0.000000	0.000000	0.02632	500.33	34	chr4	151662521	.	A	G	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.84;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	18	0	1	0
chr4	151708044	151708044	C	T	exonic	GATB	.	nonsynonymous SNV	GATB:NM_001363341:exon6:c.G821A:p.G274D,GATB:NM_004564:exon6:c.G821A:p.G274D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.121624649704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.04	0.96988	H	0.56	0.55090	T	-6.23	0.90490	D	0.96	0.96984	0.426	0.89490	D	0.550	0.83508	D	10	0.9553219	0.94890	D	0.121625	0.80243	D	0.733	0.90677	0.821	0.93395	0.878830842277	0.87764	0.9086204141869968	0.90835	0.684635313878	0.60234	0.662367165089	0.61748	T	0.393589	0.75295	T	0.339877	0.85825	D	0.250433	0.85638	D	0.999302983283997	0.96892	D	0.961904	0.97315	D	0.92816687	0.94053	0.8893594	0.94221	0.92816687	0.94054	0.8893594	0.94222	-16.077	0.97874	D	0.6899862140880416	0.76757	0.656	0.80970	P	.;.;.	.;.;.	4.963804	0.82096	27.7	0.99863650554017336	0.94184	0.98703	0.85783	D	AEFBI	0.909742	0.86676	D	1.05680153851969	0.97247	15.81602	0.959006744049276	0.97664	16.53196	0.999999999999999	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.672000	0.82948	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:1.0:0.0:0.0	19.839	0.96672	270	0.89404	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic;Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic;Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr4	151708044	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=749;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=1.33;SOR=0.85	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr4	152411469	152411471	TCC	-	exonic	FBXW7	.	nonframeshift deletion	FBXW7:NM_033632:exon2:c.333_335del:p.E111del,FBXW7:NM_001257069:exon4:c.333_335del:p.E111del,FBXW7:NM_001349798:exon4:c.333_335del:p.E111del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.16e-06	6.157e-06	9.533e-06	2.752e-06	8.096e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.096e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2572.29	33	chr4	152411468	.	ATCC	A	2572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.509;DP=750;ExcessHet=0;FS=3.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.27;ReadPosRankSum=-0.049;SOR=0.392	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr4	152770376	152770376	C	T	exonic	TIGD4	.	nonsynonymous SNV	TIGD4:NM_145720:exon2:c.G629A:p.C210Y	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00454715539605	0.0007	0.000599042	0.0010	0.0002	0.0004	0	0	0.0007	0.0033	0.0042	0.0009056	140	154602	rs139871778	0.0009	0.0009	0.0006	0.0011	0.0055	0.0008	0.0008	0.0051	0.0049	0.0003	0.0003	0	0	0	0.0050	0.0006	0.0008	0.0055	0.0005	0.0005	0.0005	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	7.213e-05	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0.0035	0.052	0.39097	T	0.7	0.05727	T	0.0	0.02946	B	0.002	0.06944	B	0.004761	0.33426	N	0.140441	0.732273	0.33732	D	1.15	0.29295	L	1.01	0.41058	T	-1.29	0.32387	N	0.122	0.11340	-1.0045	0.28607	T	0.072	0.29387	T	10	0.0074849427	0.00170	T	0.004547	0.11220	T	0.074	0.21613	.	.	0.17258766438	0.16869	0.521447656311776	0.52067	0.0239299429718	0.02427	0.58555328846	0.50868	T	0.013863	0.11911	T	-0.529666	0.00386	T	-0.532927	0.18995	T	0.0165530710946136	0.00417	T	0.668933	0.27772	T	0.22484085	0.45133	0.27387723	0.53311	0.22484085	0.45133	0.27387723	0.53310	-4.999	0.36829	T	.	.	0.244	0.47816	B	.	.	3.009436	0.40238	21.1	0.95841116343085175	0.27965	0.56844	0.30222	D	AEFBI	0.109532	0.21752	N	-0.271591532776732	0.30250	1.684948	-0.106650180999005	0.35120	2.028177	0.999944710502599	0.47345	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	5.7	2.91	0.32903	1.622000	0.36608	2.138000	0.30825	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.7699:0.0:0.2301	9.793	0.39887	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1243.33	132	chr4	152770376	.	C	T	1243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=832;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.385;SOR=0.623	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr4	152943203	152943203	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon1:c.G146A:p.C49Y,FHDC1:NM_001371116:exon2:c.G146A:p.C49Y	.	320	1146	47	9	0	65	0.0275774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0016	0.00519169	0.0052	0.0004	0.0026	0	0.0002	0.0031	0.0092	0.0229	0.0045278	700	154602	rs144913043	0.0030	0.0030	0.0022	0.0038	0.0266	0.0029	0.0029	0.0232	0.0218	0.0004	0.0025	0.0049	0	0.0002	0.0266	0.0016	0.0042	0.0227	0.0023	0.0024	0.0019	0.0027	0.0216	0.0021	0.0020	0.0182	0.0169	0.0002	0	0.0036	0.0035	0	0	0.0274	0.0023	0.0053	0.0216	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008757	0.01217	N	2.983030	1	0.08975	N	-1.87	0.00254	N	1.53	0.30401	T	0.76	0.01978	N	0.11	0.11054	-0.9921	0.32063	T	0.023	0.09696	T	10	0.0022506118	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0920862733494	0.08535	0.15457957265891106	0.15378	0.196178703926	0.21972	0.452522158623	0.32288	T	0.001957	0.01365	T	-0.687484	0.00043	T	-0.74338	0.03750	T	0.0118901831796126	0.00185	T	0.285571	0.05082	T	0.021892782	0.00818	0.041451093	0.04714	0.021892782	0.00818	0.041451093	0.04714	-4.911	0.35858	T	.	.	0.061	0.01408	B	.;.	.;.	-1.399194	0.00361	0.007	0.15099306828571379	0.00357	0.00708	0.02999	N	AEFDBI	0.019336	0.00662	N	-1.87631002830649	0.00384	0.0165022	-1.97879846972427	0.00339	0.01498587	0.999999985020185	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.51	-9.02	0.00635	-1.940000	0.01634	-0.165000	0.11284	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1062:0.235:0.1374:0.5215	3.403	0.06904	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.010101	0.017663	0.020468	0.000000	0.000000	0.018293	0.037879	0.02632	1358.33	35	chr4	152943203	.	G	A	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.978;DP=750;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.918;SOR=0.525	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr4	152975467	152975467	C	G	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C2176G:p.P726A,FHDC1:NM_001371116:exon12:c.C2176G:p.P726A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00691642213569	0.0003	0.000399361	0.0010	0	0.0002	0	0.0033	0.0012	0.0011	0.0007	0.0008344	129	154602	rs141865298	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	5.974e-05	0.0002	0	0	0.0035	0	0.0005	0.0006	0.0008	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0	0	0.0003	0	0	0.0022	0.0034	0.0005	0.0009	0.0006	0.139	0.25768	T	0.78	0.04330	T	0.051	0.22415	B	0.016	0.17743	B	0.422613	0.04657	N	1.326060	1	0.08975	N	1.65	0.42232	L	1.42	0.33189	T	-2.33	0.51646	N	0.11	0.09631	-0.9900	0.32601	T	0.071	0.28969	T	10	0.0043516755	0.00088	T	0.006916	0.18289	T	0.037	0.09474	.	.	0.178374595973	0.17440	0.19239399326205317	0.19157	0.151165570631	0.17061	0.338100969791	0.16153	T	0.030646	0.21673	T	-0.501347	0.00562	T	-0.55492	0.16857	T	0.0187762610712301	0.00589	T	0.506749	0.16047	T	0.097330995	0.22940	0.06519572	0.13178	0.097330995	0.22940	0.06519572	0.13178	-4.039	0.24385	T	.	.	0.063	0.01834	B	.;.	.;.	0.959111	0.13353	9.860	0.81678828844426843	0.13806	0.25441	0.22700	N	AEFDBCI	0.084542	0.17135	N	-0.757692104228063	0.14424	0.7184491	-0.764282463572593	0.15372	0.8081248	0.999764882840155	0.42728	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.54	3.67	0.41236	0.390000	0.20494	-0.548000	0.08544	0.530000	0.24713	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.8372:0.1628:0.0	12.973	0.57926	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	945.33	74	chr4	152975467	.	C	G	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=1139;ExcessHet=0;FS=10.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.024;SOR=0.176	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr4	153591128	153591128	G	T	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon17:c.G1746T:p.L582F,TMEM131L:NM_015196:exon17:c.G1743T:p.L581F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0143875497814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.806e-06	5.472e-05	5.466e-06	4.139e-06	2.542e-05	2e-06	1.29e-06	.	.	0	0	0	2.542e-05	7.598e-05	0	9.015e-07	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.141	0.33442	T	0.228	0.35185	B	0.081	0.36237	B	0.000017	0.62929	D	0.068177	0.997302	0.81001	D	2.38	0.68558	M	2.37	0.15964	T	-0.57	0.17210	N	0.519	0.54932	-1.0976	0.04394	T	0.038	0.16462	T	10	0.4452923	0.58357	T	0.014388	0.34475	T	0.178	0.44724	0.743	0.87486	0.043077524339	0.03247	0.5696554897554107	0.56893	0.352791717836	0.37101	0.470431864262	0.34740	T	0.010747	0.09672	T	-0.133169	0.30984	T	-0.429064	0.30040	T	0.747104108333588	0.43124	D	0.814918	0.46941	T	0.033668436	0.03633	0.041021567	0.04567	0.033668436	0.03633	0.041021567	0.04566	-8.332	0.63311	D	.	.	0.168	0.37063	B	.;.	.;.	2.787134	0.36630	20.3	0.98735801137146573	0.45422	0.75780	0.37121	D	AEFBI	0.069613	0.13787	N	-0.24784051371424	0.31190	1.746411	-0.16667053348835	0.32771	1.867784	0.995541972794768	0.34186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	2.96	0.33383	2.177000	0.42138	5.913000	0.51050	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.066:0.2396:0.4474:0.247	4.937	0.13297	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	69.33	41	chr4	153591128	.	G	T	69.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.414;DP=654;ExcessHet=0;FS=50.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=-0.44;SOR=5.417	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	18	0	1	0
chr4	153622988	153622988	G	A	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon29:c.G3950A:p.R1317H,TMEM131L:NM_015196:exon29:c.G3947A:p.R1316H	.	420	1101	1	0	0	1	0.000453926	.	.	.	3339608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0588208891696	.	.	3.3e-05	0	0	0.0001	0	3.004e-05	0	6.062e-05	3.88e-05	6	154602	rs765879905	5.678e-05	5.746e-05	4.628e-05	6.738e-05	0.0003	4.676e-05	4.301e-05	0.0002	0.0001	5.975e-05	0	0	0.0003	0	0.0002	5.306e-05	8.279e-05	4.637e-05	9.855e-05	9.85e-05	0.0001	8.07e-05	0.0004	6.006e-05	4.879e-05	6.813e-05	5.087e-05	7.239e-05	0	6.543e-05	0	0.0004	0	0	0.0001	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	1.08	0.48460	T	-1.98	0.45769	N	0.48	0.59648	-0.5380	0.67239	T	0.294	0.66555	T	10	0.22894502	0.39811	T	0.058821	0.67452	D	0.166	0.42578	.	.	0.0934897674506	0.08844	0.4525255567677432	0.45170	0.578139230769	0.53719	0.598208725452	0.52651	T	0.054134	0.35771	T	-0.16341	0.26236	T	-0.208075	0.53879	T	0.389598418939545	0.28549	T	0.940406	0.82399	D	0.21981362	0.44522	0.25214794	0.50839	0.21981362	0.44522	0.25214794	0.50838	-5.222	0.39165	T	.	.	0.523	0.67882	A	.;.;.	.;.;.	5.288587	0.88792	29.7	0.99956775018562016	0.99981	0.90962	0.52592	D	AEFDBHCI	0.733048	0.67961	D	0.756461057280435	0.83326	7.988082	0.745165911305851	0.85797	8.688615	0.999999999995656	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.69	5.69	0.88346	6.072000	0.70870	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	19.821	0.96589	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1916.33	34	chr4	153622988	.	G	A	1916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=786;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-2.184;SOR=0.812	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1294	18	0	1	0
chr4	153627657	153627657	G	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon31:c.G4177C:p.A1393P,TMEM131L:NM_015196:exon31:c.G4174C:p.A1392P	.	418	1060	41	3	0	47	0.021689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0101	0.00898562	0.0070	0.0139	0.0059	0	0.0003	0.0068	0.0110	0.0107	0.0070051	1083	154602	rs35543386	0.0070	0.0070	0.0068	0.0072	0.0236	0.0069	0.0068	0.0204	0.0192	0.0171	0.0076	0.0002	7.557e-05	0.0009	0.0236	0.0068	0.0079	0.0126	0.0098	0.0098	0.0095	0.0100	0.0174	0.0094	0.0092	0.0164	0.0160	0.0174	0	0.0131	0	0.0002	0.0002	0.0272	0.0070	0.0123	0.0100	0.111	0.29029	T	0.254	0.23433	T	0.918	0.53992	P	0.432	0.51908	B	0.079920	0.20955	N	0.510995	0.904796	0.27629	N	1.905	0.50856	L	2.39	0.19588	T	-1.58	0.38151	N	0.18	0.30574	-1.1150	0.02673	T	0.033	0.14073	T	10	0.0036915839	0.00068	T	.	.	.	0.056	0.15993	.	.	0.128874641272	0.12493	0.3607456332118572	0.35988	0.448003017577	0.44648	0.317208051682	0.12997	T	0.005717	0.18437	T	-0.587468	0.00174	T	-0.602353	0.12615	T	0.0279178617237596	0.01677	T	0.877812	0.59215	D	0.2115418	0.43482	0.22197399	0.47026	0.2115418	0.43481	0.22197399	0.47025	-3.541	0.17010	T	.	.	0.104	0.23675	B	.;.;.	.;.;.	1.853712	0.23552	16.06	0.98675804788432819	0.44539	0.88046	0.47806	D	AEFBCI	0.333054	0.43226	N	0.107246852498997	0.46800	2.914933	0.0520436456802148	0.42170	2.546096	0.999547907962721	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.79	0.60909	3.431000	0.52582	1.482000	0.26828	0.676000	0.76740	0.988000	0.36536	0.912000	0.28152	0.019000	0.11356	0.0764:0.0:0.9236:0.0	12.522	0.55413	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.015152	0.019022	0.029240	0.000000	0.008621	0.027439	0.015152	0.02632	2252.33	37	chr4	153627657	.	G	C	2252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=810;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.087;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1428	18	0	1	0
chr4	153712573	153712573	A	-	exonic	RNF175	.	frameshift deletion	RNF175:NM_173662:exon8:c.768delT:p.H257Mfs*26	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs748534464	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.163e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0132	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2468.29	33	chr4	153712572	.	GA	G	2468.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.998;DP=879;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.65;ReadPosRankSum=-1.162;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	18	0	1	0
chr4	153712577	153712577	C	G	splicing	RNF175	NM_173662:exon8:c.765-1G>C	.	.	.	424	1091	7	0	0	7	0.00319781	1.0000	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs201624616	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.181e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0133	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180841	0.72120	D	0.384	0.91568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316225	0.66020	24.9	0.99501987502154821	0.68089	0.98373	0.82117	D	AEFI	.	.	.	1.10981550956187	0.98312	17.94131	0.94201250299524	0.97156	15.67585	0.999999998906334	0.74766	0.164513	0.03853	0	0.059962	0.00310	0	0.183335	0.04453	0	0.058706	0.01089	0	0.987031	0.95367	4.69	4.69	0.58546	5.683000	0.67852	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.937	0.79508	655	0.62421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	33	chr4	153712577	.	C	G	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.602;DP=870;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=-0.644;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	18	0	1	0
chr4	153723417	153723417	T	C	exonic	RNF175	.	nonsynonymous SNV	RNF175:NM_173662:exon5:c.A443G:p.Y148C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.114241179794	.	.	1.005e-05	0	0	0	0	1.81e-05	0	0	1.29e-05	2	154602	rs754466552	4.125e-06	6.157e-06	5.475e-06	2.763e-06	2.333e-05	1.48e-06	9.8e-07	3.87e-06	1.45e-06	0	0	0	0	0	0	2.713e-06	1.663e-05	2.333e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.037	0.43085	D	0.003	0.76473	D	0.597	0.39250	P	0.248	0.38946	B	0.000001	0.84330	D	0.000000	0.999991	0.58761	D	1.905	0.50856	L	-1.67	0.82806	D	-7.2	0.95366	D	0.525	0.55453	0.395	0.89018	D	0.692	0.89364	D	10	0.79622066	0.79094	D	0.114241	0.79303	D	0.761	0.91879	0.41	0.44559	0.87773450878	0.87654	0.9043632365930098	0.90409	0.0422098634338	0.04548	0.562974572182	0.47688	T	0.112168	0.42823	T	0.297547	0.82771	D	0.189629	0.82548	D	0.88829493522644	0.53888	D	0.910309	0.72946	D	0.57086456	0.71108	0.45162308	0.68096	0.57086456	0.71109	0.45162308	0.68096	-10.646	0.77682	D	.	.	0.102	0.30608	B	.;.	.;.	2.716491	0.35524	19.92	0.99713995988935433	0.81563	0.89758	0.50431	D	AEFBI	0.643342	0.61999	D	0.378324815151998	0.60250	4.211811	0.316675990067181	0.56520	3.815369	0.337127888854382	0.19545	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.34	3.15	0.35301	4.463000	0.59863	1.417000	0.26331	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.998000	0.85391	0.0:0.0933:0.0:0.9067	8.616	0.32995	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1812.33	44	chr4	153723417	.	T	C	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=986;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.8;SOR=0.723	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	18	0	1	0
chr4	154366329	154366329	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon3:c.C2357T:p.P786L,DCHS2:NM_001358235:exon3:c.C2357T:p.P786L	.	11	1492	19	0	0	19	0.00632701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.022935540165	.	.	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002458	38	154602	rs776121940	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0013	0	6.709e-05	0	2.52e-05	1.872e-05	0.0017	2.248e-05	0.0002	0.0016	7.237e-05	7.224e-05	3.858e-05	0.0001	0.0012	3.976e-05	3.131e-05	0.0005	0.0004	0	0	6.551e-05	0	0	9.43e-05	0	4.412e-05	0	0.0012	0.056	0.38185	T	0.47	0.12246	T	.	.	.	.	.	.	0.000025	0.55875	D	0.000000	0.994405	0.58761	D	.	.	.	0.23	0.59717	T	-7.39	0.94729	D	0.257	0.29081	-0.7546	0.57694	T	0.203	0.56073	T	10	0.04729852	0.04030	T	0.022936	0.45870	T	0.252	0.56159	.	.	0.572487460518	0.56915	0.14732694719053407	0.14654	0.083602548592	0.09429	0.418002486229	0.27562	T	.	.	.	-0.363034	0.03962	T	-0.324328	0.42098	T	0.211391301806368	0.21026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	3.680329	0.52381	23.2	0.99692421900675798	0.80044	0.97921	0.78139	D	AEFI	0.761082	0.69891	D	0.0879980630607209	0.45905	2.839226	0.164841798287514	0.47934	3.016299	0.999999974898402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.82	4.98	0.65679	6.911000	0.75569	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0705:0.0:0.9295:0.0	14.610	0.68104	849	0.35778	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.050000	0.000000	0.006098	0.003788	0.02632	1258.33	35	chr4	154366329	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.224;DP=720;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.751;SOR=0.415	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr4	154609725	154609725	C	T	exonic	FGG	.	nonsynonymous SNV	FGG:NM_000509:exon6:c.G571A:p.G191R,FGG:NM_021870:exon6:c.G571A:p.G191R	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	428	1092	2	0	0	2	0.000914913	.	.	.	31417	not_specified|not_provided|Congenital_afibrinogenemia|Fibrinogen_Milano_XII,_digenic|Familial_dysfibrinogenemia|Hypofibrinogenemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MedGen:C4016097|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|Human_Phenotype_Ontology:HP:0011900,MedGen:C0553681	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.785	.	0.0038	0.00279553	0.0027	0.0010	0.0020	0	0.0002	0.0043	0.0011	0.0002	0.0030401	470	154602	rs6063	0.0039	0.0039	0.0040	0.0039	0.0047	0.0038	0.0038	0.0045	0.0045	0.0008	0.0027	0.0047	0	0.0004	0.0026	0.0047	0.0038	0.0002	0.0033	0.0033	0.0037	0.0030	0.0054	0.0031	0.0030	0.0049	0.0047	0.0010	0	0.0042	0.0058	0	0.0002	0.0102	0.0054	0.0061	0	0.012	0.65419	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.555	0.93317	H	-5.31	0.98979	D	-3.64	0.72471	D	0.97	0.98368	0.710	0.93305	D	0.966	0.98900	D	10	0.0155365765	0.00326	T	.	.	.	0.785	0.92868	0.691	0.82843	0.984971989825	0.98481	0.9014073804427019	0.90112	0.880022515996	0.69735	0.713179349899	0.69054	T	0.501586	0.82173	D	0.209774	0.74808	D	0.531856	0.95255	D	0.0524031467930075	0.05917	T	0.963604	0.86607	D	0.9250398	0.93742	0.6358229	0.78738	0.9235285	0.93593	0.7170355	0.83298	-9.759	0.72675	D	0.7009559900131045	0.77992	0.808	0.84068	P	.;.;.;.;.;.	.;.;.;.;.;.	5.151729	0.86294	28.9	0.99940767237442985	0.99797	0.98344	0.81832	D	AEFBCI	0.971014	0.99317	D	0.942128346374213	0.93665	12.19247	0.865898429468177	0.93910	12.36683	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	7.622000	0.82286	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.271	0.93996	753	0.51500	.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1943.33	35	chr4	154609725	.	C	T	1943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.23;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1414	18	0	1	0
chr4	156970791	156970791	T	C	exonic	PDGFC	.	nonsynonymous SNV	PDGFC:NM_016205:exon1:c.A113G:p.Q38R	.	419	1095	8	0	0	8	0.00363967	.	.	.	698404	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0304779678671	0.0049	0.00179712	0.0045	0.0012	0.0020	0	0.0032	0.0070	0.0055	0.0011	0.0046312	716	154602	rs139145392	0.0056	0.0056	0.0057	0.0055	0.0067	0.0055	0.0054	0.0066	0.0066	0.0009	0.0021	0.0004	0	0.0038	0.0019	0.0067	0.0036	0.0009	0.0045	0.0046	0.0046	0.0045	0.0076	0.0043	0.0041	0.0071	0.0069	0.0012	0.0066	0.0036	0.0006	0	0.0036	0.0102	0.0076	0.0066	0.0008	0.359	0.11957	T	0.28	0.21678	T	0.046	0.21875	B	0.029	0.21540	B	0.003383	0.35013	N	0.123153	0.941684	0.81001	D	0.895	0.22405	L	2.5	0.15028	T	-0.22	0.10480	N	0.368	0.59986	-1.0636	0.10878	T	0.021	0.08778	T	10	0.005934298	0.00133	T	0.030478	0.52780	D	0.088	0.25558	.	.	0.355939216326	0.35206	0.46646239448598964	0.46565	0.335273972475	0.35535	0.42699226737	0.28798	T	0.189267	0.54343	T	-0.49828	0.00584	T	-0.47749	0.24713	T	0.0131331181288612	0.00231	T	0.714629	0.32694	T	0.12947892	0.30239	0.09102277	0.21379	0.12947892	0.30239	0.09102277	0.21379	-2.921	0.11632	T	.	.	0.098	0.16275	B	.;.	.;.	2.197193	0.28021	17.66	0.59955452517554197	0.06347	0.86685	0.46018	D	ALL	0.425251	0.49009	N	-0.643716359110155	0.17643	0.9096266	-0.57135197768049	0.20242	1.089644	0.999999978345604	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	5.12	1.09	0.19517	3.813000	0.55340	3.292000	0.37313	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0712:0.2708:0.658	7.428	0.26286	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1288.33	33	chr4	156970791	.	T	C	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=742;ExcessHet=0;FS=4.392;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.655;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr4	157321519	157321519	T	G	exonic	GRIA2	.	nonsynonymous SNV	GRIA2:NM_000826:exon6:c.T802G:p.S268A,GRIA2:NM_001083619:exon6:c.T802G:p.S268A,GRIA2:NM_001083620:exon6:c.T661G:p.S221A,GRIA2:NM_001379000:exon6:c.T661G:p.S221A,GRIA2:NM_001379001:exon6:c.T661G:p.S221A	.	433	1082	7	0	0	7	0.00322432	.	.	.	3185124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.225	0.0493016143986	0.0008	0.000199681	0.0008	0	8.642e-05	0	0.0026	0.0011	0.0033	0.0005	0.0007633	118	154602	rs140170280	0.0006	0.0006	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	3.001e-05	0.0006	3.836e-05	0	0.0028	0.0026	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0008	0.0014	0.0005	0.0005	0.0007	0.0005	7.218e-05	0	0.0009	0	0	0.0030	0	0.0006	0.0009	0.0014	0.054	0.39334	T	0.198	0.33000	T	0.0	0.02946	B	0.002	0.21332	B	0.000003	0.62929	D	0.062591	0.66997	0.33133	D	0.345	0.11182	N	-1.68	0.82897	D	-0.34	0.12847	N	0.11	0.11340	-0.5198	0.67921	T	0.314	0.68389	T	10	0.014852703	0.00312	T	0.049302	0.63754	D	0.225	0.52323	.	.	0.711220359637	0.70869	0.5210782207702288	0.52030	0.507877447658	0.48965	0.574447393417	0.49305	T	0.175957	0.52572	T	-0.344147	0.05106	T	-0.317561	0.42843	T	0.0547423717922944	0.06314	T	0.646135	0.25753	T	0.24623437	0.47591	0.14716622	0.34837	0.24623437	0.47591	0.14716622	0.34836	-2.627	0.08211	T	0.07050452392643826	0.02729	0.065	0.01934	B	.;.;.;.;.	.;.;.;.;.	3.469521	0.48398	22.6	0.98829992549823198	0.46936	0.93830	0.59314	D	AEFI	0.588657	0.58583	D	-0.313935845663424	0.28618	1.57998	-0.177329264770353	0.32372	1.841081	0.00364848504263491	0.10216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.28	0.50183	5.621000	0.67420	6.069000	0.53240	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.0:0.3103:0.0:0.6897	6.075	0.19133	957	0.09725	.;.;.;.;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	2993.81	47	chr4	157321519	.	T	G	2993.81	.	AC=2;AF=0.053;AN=38;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=1.227	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	1	0	0
chr4	157335735	157335735	G	C	exonic	GRIA2	.	nonsynonymous SNV	GRIA2:NM_000826:exon10:c.G1331C:p.G444A,GRIA2:NM_001083619:exon10:c.G1331C:p.G444A,GRIA2:NM_001083620:exon10:c.G1190C:p.G397A,GRIA2:NM_001379000:exon10:c.G1190C:p.G397A,GRIA2:NM_001379001:exon10:c.G1190C:p.G397A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	0.272931181032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0035	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0010	4.489e-05	0.0003	0.0002	0	0.0009	0.0013	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.028	0.54934	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.575	0.99193	H	-2.39	0.88377	D	-5.39	0.85176	D	0.98	0.99100	1.031	0.97738	D	0.911	0.97063	D	10	0.9729528	0.96956	D	0.272931	0.89948	D	0.825	0.94428	0.887	0.97178	0.946428833122	0.94586	0.9873550505668254	0.98729	1.67767398834	0.89937	0.868580937386	0.92364	D	0.828473	0.95879	D	0.456242	0.92757	D	0.417584	0.92668	D	0.998666524887085	0.94798	D	0.997738	0.99067	D	0.9104525	0.92337	0.9320738	0.97237	0.9104525	0.92338	0.9320738	0.97238	-11.149	0.81611	D	0.9158571005698944	0.96226	0.999	0.98383	P	.;.;.;.;.	.;.;.;.;.	5.109210	0.85411	28.6	0.99844824742633387	0.92489	0.99260	0.93590	D	AEFI	0.925718	0.90571	D	1.15125414042626	0.98975	20.11033	1.0769017308603	0.99639	24.64639	0.999999998911027	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	10.003000	0.99689	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.563	0.99337	957	0.09725	.;.;.;.;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	113.33	34	chr4	157335735	.	G	C	113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.454;DP=778;ExcessHet=0;FS=180.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.499;SOR=7.053	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr4	158170954	158170954	C	T	exonic	GASK1B	.	nonsynonymous SNV	GASK1B:NM_001031700:exon2:c.G422A:p.G141E,GASK1B:NM_001128424:exon2:c.G422A:p.G141E,GASK1B:NM_016613:exon2:c.G422A:p.G141E	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0072	0.00379393	0.0069	0.0015	0.0041	0	0.0054	0.0105	0.0088	0.0021	0.0068175	1054	154602	rs147697286	0.0084	0.0084	0.0085	0.0084	0.0099	0.0083	0.0083	0.0097	0.0097	0.0013	0.0035	0.0031	0	0.0077	0.0064	0.0099	0.0077	0.0020	0.0065	0.0065	0.0070	0.0060	0.0113	0.0062	0.0060	0.0106	0.0104	0.0016	0.0033	0.0033	0.0052	0	0.0053	0.0034	0.0113	0.0076	0.0015	0.063	0.37118	T	0.842	0.22223	T	.	.	.	.	.	.	0.914439	0.07436	N	1.040310	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.34	0.33401	N	0.168	0.25377	-0.9831	0.34281	T	0.060	0.24981	T	10	0.0036983788	0.00068	T	.	.	.	0.079	0.23065	.	.	0.245101548738	0.24120	0.415537053956538	0.41469	0.726907967018	0.62539	0.404081493616	0.25637	T	.	.	.	-0.621282	0.00108	T	-0.653529	0.08709	T	0.0180847529048615	0.00531	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.15698	B	.;.;.;.	.;.;.;.	0.723194	0.10925	7.592	0.82697138627709676	0.14327	0.40026	0.26345	N	AEFDBCI	0.314170	0.41911	N	-0.727053110721069	0.15264	0.7677369	-0.834160244315512	0.13669	0.7103327	0.999999903827991	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	4.96	-0.115	0.12899	0.836000	0.27198	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.098000	0.22634	0.011000	0.09372	0.0:0.36:0.5634:0.0766	10.999	0.46810	640	0.64132	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.008152	0.002924	0.050000	0.000000	0.006098	0.003788	0.02632	2650.33	40	chr4	158170954	.	C	T	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.92;DP=820;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.092;SOR=0.854	GT:AD:DP:GQ:PL	0/1:77,101:178:99:2664,0,2140	18	0	1	0
chr4	158690420	158690420	C	A	exonic	ETFDH	.	nonsynonymous SNV	ETFDH:NM_001281738:exon4:c.C496A:p.P166T,ETFDH:NM_001281737:exon5:c.C538A:p.P180T,ETFDH:NM_004453:exon6:c.C679A:p.P227T	Glutaric acidemia IIC, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	453819	not_provided|Multiple_acyl-CoA_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.753	0.606587249634	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs141407224	1.64e-05	2.397e-05	1.283e-05	1.996e-05	0.0002	1.092e-05	9.12e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	1.229e-05	6.851e-05	5.876e-05	6.58e-06	6.57e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.006	0.70582	D	0.989	0.62824	D	0.915	0.65091	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-3.53	0.95728	D	-7.52	0.95424	D	0.8	0.79599	1.084	0.99007	D	0.955	0.98531	D	10	0.9110247	0.90467	D	0.606587	0.96552	D	0.753	0.91541	.	.	0.99433080654	0.99427	0.7540086035364072	0.75347	0.526693845599	0.50296	0.647931337357	0.59692	T	0.617396	0.87959	D	0.228382	0.76569	D	0.271807	0.86674	D	0.997116684913635	0.90803	D	0.982268	0.94010	D	0.7803331	0.82674	0.7980144	0.88145	0.7803331	0.82676	0.7980144	0.88146	-8.743	0.66027	D	0.7227336974908166	0.80392	0.734	0.74392	P	.;.;.	.;.;.	4.720858	0.75937	26.4	0.99712400916760324	0.81423	0.99080	0.90931	D	AEFBI	0.897303	0.83932	D	1.00904894180324	0.96017	14.20913	0.942229121148304	0.97163	15.68665	0.999999999536563	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	7.148000	0.76979	7.617000	0.62147	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	20.333	0.98727	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1223.33	33	chr4	158690420	.	C	A	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.069;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.711;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	18	0	1	0
chr4	158861409	158861409	G	A	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon10:c.G154A:p.G52S,FNIP2:NM_001323916:exon11:c.G1285A:p.G429S,FNIP2:NM_020840:exon11:c.G1216A:p.G406S,FNIP2:NM_001366843:exon12:c.G1375A:p.G459S	.	.	.	.	.	.	.	.	.	.	.	3973620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00875149602764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273551648	1.916e-05	1.915e-05	1.77e-05	2.063e-05	3.478e-05	1.328e-05	1.144e-05	1.295e-05	1.106e-05	0	0	3.826e-05	2.519e-05	0	0	1.979e-05	1.656e-05	3.478e-05	3.287e-05	3.284e-05	2.571e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0	0.757	0.03512	T	0.797	0.04168	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	0.995839	0.23188	N	0.205	0.09354	N	1.69	0.27032	T	-0.65	0.22078	N	0.048	0.01999	-1.0144	0.25529	T	0.041	0.17530	T	8	0.043851376	0.03279	T	0.008751	0.23099	T	0.026	0.05648	0.337	0.32654	0.043077524339	0.03247	0.10788507950555266	0.10717	0.13947928721	0.15718	0.317339420319	0.13017	T	0.005851	0.05296	T	-0.329764	0.06130	T	-0.71146	0.05221	T	0.0209625502829323	0.00797	T	0.814918	0.46941	T	0.07083844	0.15635	0.07260419	0.15682	0.07083844	0.15634	0.07260419	0.15682	-6.672	0.51599	T	.	.	0.051	0.00216	B	.;.	.;.	1.648125	0.21029	15.02	0.71855397676441624	0.09771	0.12745	0.17454	N	AEFDGBHCI	0.052574	0.09396	N	-0.762683123614129	0.14291	0.7106869	-0.639583065373432	0.18479	0.9873925	0.999998332201394	0.74766	0.615465	0.37627	0	0.518115	0.08659	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.95	3.63	0.40741	1.558000	0.35917	5.371000	0.48428	-0.194000	0.09177	0.298000	0.25306	1.000000	0.68203	0.986000	0.61781	0.8439:0.0:0.1561:0.0	8.867	0.34452	869	0.31655	Folliculin-interacting protein, middle domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, middle domain|Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1611.33	35	chr4	158861409	.	G	A	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.907;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	18	0	1	0
chr4	158868858	158868858	G	A	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon12:c.G1160A:p.R387Q,FNIP2:NM_001323916:exon13:c.G2291A:p.R764Q,FNIP2:NM_020840:exon13:c.G2222A:p.R741Q,FNIP2:NM_001366843:exon14:c.G2381A:p.R794Q	.	425	1094	3	0	0	3	0.00136924	.	.	.	698411	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00360220211356	0.0042	0.00139776	0.0051	0.0012	0.0021	0	0.0062	0.0078	0.0034	0.0014	0.0051616	798	154602	rs62001913	0.0068	0.0068	0.0070	0.0067	0.0081	0.0067	0.0066	0.0080	0.0079	0.0011	0.0026	0.0005	2.519e-05	0.0052	0.0012	0.0081	0.0051	0.0021	0.0045	0.0045	0.0048	0.0043	0.0077	0.0043	0.0042	0.0071	0.0069	0.0011	0	0.0038	0.0003	0	0.0050	0.0034	0.0077	0.0028	0.0015	0.753	0.03555	T	0.709	0.05544	T	0.064	0.23455	B	0.007	0.12992	B	0.783727	0.09451	N	0.906612	1	0.08975	N	0.855	0.21307	L	2.06	0.20523	T	-0.31	0.12099	N	0.055	0.02658	-0.9759	0.35926	T	0.021	0.08963	T	9	0.003086865	0.00051	T	0.003602	0.08247	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.15775478761718495	0.15696	0.167181305185	0.18855	0.20588208735	0.00649	T	0.005158	0.04603	T	-0.68681	0.00044	T	-0.752792	0.03378	T	0.00338510772129118	0.00036	T	0.756624	0.37993	T	0.02145947	0.00749	0.028963976	0.01184	0.02145947	0.00749	0.028963976	0.01184	-3.053	0.10763	T	.	.	0.067	0.02399	B	.	.	0.622815	0.09910	6.671	0.47959106642509625	0.03963	0.17911	0.20040	N	AEFBI	0.030179	0.02990	N	-0.820959430242526	0.12775	0.6249135	-0.787182479578607	0.14809	0.7757501	0.0615860427457442	0.15236	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	1.1	0.19578	1.242000	0.32358	1.479000	0.26808	-0.113000	0.14837	0.944000	0.32806	0.995000	0.32472	0.160000	0.20649	0.2669:0.1442:0.154:0.435	0.641	0.00758	867	0.32089	Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1615.33	34	chr4	158868858	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=772;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.129;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr4	163325337	163325337	T	G	exonic	NPY1R	.	nonsynonymous SNV	NPY1R:NM_000909:exon3:c.A1121C:p.K374T	.	424	1086	10	2	0	14	0.00640439	.	.	.	698417	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.223	0.0188386388825	0.0051	0.00299521	0.0047	0.0013	0.0031	0	0.0021	0.0067	0.0033	0.0032	0.0047735	738	154602	rs5578	0.0064	0.0064	0.0065	0.0063	0.0078	0.0063	0.0063	0.0070	0.0070	0.0008	0.0051	0.0128	0	0.0025	0.0078	0.0071	0.0062	0.0032	0.0048	0.0048	0.0050	0.0046	0.0073	0.0045	0.0044	0.0067	0.0065	0.0014	0	0.0058	0.0135	0	0.0010	0.0102	0.0073	0.0066	0.0029	0.017	0.51248	D	0.211	0.92824	T	0.421	0.35387	B	0.081	0.28987	B	0.000012	0.62929	D	0.000000	0.786954	0.35487	D	1.245	0.31408	L	-0.54	0.70950	T	0.29	0.06026	N	0.327	0.36779	-0.9014	0.47846	T	0.109	0.39462	T	10	0.005621642	0.00125	T	0.018839	0.41032	T	0.223	0.52023	.	.	0.706192701395	0.70363	0.48329671293945403	0.48249	0.985083026492	0.73871	0.593032479286	0.51922	T	0.088526	0.38178	T	-0.321392	0.06785	T	-0.230568	0.51717	T	0.0236821244618137	0.01106	T	0.580842	0.21027	T	0.1348517	0.31318	0.14441551	0.34287	0.1348517	0.31318	0.14441551	0.34286	-3.308	0.13841	T	.	.	0.094	0.14293	B	.;.	.;.	2.603127	0.33792	19.44	0.9957849644518042	0.72861	0.93919	0.59572	D	AEI	0.435174	0.49592	N	-0.124202815787353	0.36340	2.099252	0.0353182802795358	0.41368	2.484112	4.52874083037046E-4	0.07036	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.69	3.13	0.35090	2.421000	0.44343	4.006000	0.41118	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0681:0.1265:0.8054	9.071	0.35654	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.015152	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1293.33	33	chr4	163325337	.	T	G	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.265;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.49;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr4	163351277	163351277	C	T	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.C1004T:p.T335I,NPY5R:NM_006174:exon4:c.C1004T:p.T335I,NPY5R:NM_001317092:exon5:c.C1004T:p.T335I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0108311932205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.104677	0.19692	N	0.353677	0.999984	0.18198	N	-0.175	0.04276	N	-0.57	0.71307	T	0.96	0.01488	N	0.085	0.06190	-1.0193	0.23943	T	0.095	0.35950	T	10	0.05253467	0.05304	T	0.010831	0.27810	T	0.032	0.07718	0.322	0.30226	0.653558895992	0.65067	0.2584225505867246	0.25756	0.219413517028	0.24476	0.368647158146	0.20638	T	0.068079	0.33364	T	-0.262813	0.12574	T	-0.615289	0.11559	T	0.0353402179298995	0.02867	T	0.630337	0.24523	T	0.02558421	0.01512	0.03878973	0.03824	0.02558421	0.01512	0.03878973	0.03824	-3.666	0.18818	T	.	.	0.082	0.09239	B	.;.;.	.;.;.	1.490155	0.19171	14.13	0.11606059234810664	0.00179	0.29849	0.23929	N	AEFBI	0.056203	0.10370	N	-0.71292391236622	0.15658	0.7910328	-0.532740420866914	0.21266	1.149631	0.00524209280393492	0.10876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.49	1.6	0.22686	2.331000	0.43552	1.720000	0.28254	0.549000	0.26987	0.876000	0.30908	0.968000	0.29604	0.989000	0.64315	0.0:0.3731:0.0:0.6269	5.888	0.18141	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1879.33	44	chr4	163351277	.	C	T	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=877;ExcessHet=0;FS=7.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.849;SOR=1.249	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr4	163473528	163473528	G	T	exonic	TKTL2	.	nonsynonymous SNV	TKTL2:NM_032136:exon1:c.C207A:p.N69K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0115043885397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.057	0.46406	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.99868	0.45275	D	2.55	0.74443	M	1.64	0.27822	T	-3.3	0.65858	D	0.783	0.77978	-0.8920	0.48758	T	0.164	0.50078	T	10	0.7845738	0.78137	D	0.011504	0.29187	T	0.285	0.60338	0.619	0.75347	0.258779203287	0.25495	0.3822139047622248	0.38136	0.599303749969	0.55058	0.397569030523	0.24730	T	0.279863	0.65255	T	-0.187651	0.22603	T	-0.507324	0.21590	T	0.978939294815063	0.72574	D	0.984102	0.94582	D	0.3519175	0.57216	0.2882151	0.54836	0.3519175	0.57216	0.2882151	0.54835	-7.674	0.58827	D	.	.	0.619	0.69669	P	.	.	1.969460	0.25016	16.61	0.9792506980310135	0.36914	0.83513	0.42625	D	AEFGBCI	0.271092	0.38702	N	-0.260783451527471	0.30674	1.712636	-0.447116623371492	0.23630	1.289692	0.997226399593401	0.35393	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.61	-0.151	0.12755	0.079000	0.14636	-1.407000	0.05512	-0.962000	0.01975	0.947000	0.32937	0.000000	0.08366	0.171000	0.21011	0.3983:0.0:0.6017:0.0	8.418	0.31842	987	0.02648	Transketolase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr4	163473528	.	G	T	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=796;ExcessHet=0;FS=66.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.27;SOR=6.272	GT:AD:DP:GQ:PL	0/1:134,22:156:88:88,0,3419	18	0	1	0
chr4	163585748	163585748	C	T	splicing	MARCHF1	NM_017923:exon2:c.372+1G>A;NM_001166373:exon6:c.423+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454917	0.92700	D	0.41568	0.92610	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.395323	0.90374	31	0.99413111954673972	0.63405	0.98800	0.87016	D	AEFI	.	.	.	1.18622248501993	0.99414	22.54121	1.04388804480377	0.99310	21.83199	0.999999999999937	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.984643	0.91959	5.57	5.57	0.84021	7.905000	0.86479	7.695000	0.65987	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:1.0:0.0:0.0	19.556	0.95339	985	0.02828	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	712.33	33	chr4	163585748	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.08;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.132;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr4	163854046	163854046	G	T	exonic	MARCHF1	.	nonsynonymous SNV	MARCHF1:NM_001166373:exon3:c.C86A:p.A29D	.	.	.	.	.	.	.	.	.	.	.	3281389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00485850447366	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs201095700	9.751e-05	9.303e-05	8.27e-05	0.0001	0.0006	8.402e-05	7.846e-05	0.0004	0.0004	0	0.0001	0	0	0	0.0004	6.582e-05	0.0002	0.0006	0.0001	0.0001	0.0002	9.417e-05	0.0006	8.17e-05	6.726e-05	0.0002	8.989e-05	0	0	0.0003	0	0	0	0	0.0002	0	0.0006	0.018	0.78490	D	0.429	0.63918	T	0.008	0.14655	B	0.02	0.19048	B	0.111747	0.02646	N	1.798220	1	0.08975	N	0.345	0.11182	N	1.86	0.39781	T	-0.42	0.14193	N	0.246	0.43029	-0.9992	0.30143	T	0.063	0.26244	T	10	0.04449776	0.03414	T	0.004859	0.12192	T	0.059	0.16972	0.279	0.23323	0.429091045357	0.42525	0.6148122128033549	0.61413	0.58140267316	0.53940	0.396922051907	0.24641	T	0.031463	0.22053	T	-0.402507	0.02229	T	-0.471011	0.25406	T	0.0420384478285923	0.04063	T	0.657134	0.26688	T	0.15714885	0.35426	0.15282731	0.35939	0.15714885	0.35425	0.15282731	0.35938	-3.215	0.12665	T	.	.	0.119	0.50063	B	.;.;.;.	.;.;.;.	3.739634	0.53540	23.4	0.98014419518215123	0.37582	0.67686	0.33523	D	AEFI	0.135558	0.25593	N	-0.601953859034301	0.18886	0.9841045	-0.446290597499839	0.23653	1.29109	2.53468366320355E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	4.49	0.54177	2.199000	0.42348	5.046000	0.46955	0.676000	0.76740	0.914000	0.31788	1.000000	0.68203	0.917000	0.45243	0.0968:0.1705:0.7327:0.0	7.743	0.28017	980	0.04108	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	859.33	33	chr4	163854046	.	G	T	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=704;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.094;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	18	0	1	0
chr4	164197069	164197069	C	T	exonic	ANP32C	.	nonsynonymous SNV	ANP32C:NM_012403:exon1:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000199681	0.0015	0	8.747e-05	0	0.0040	0.0023	0	0.0002	0.0013454	208	154602	rs115560650	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0012	9.001e-05	0.0001	0.0002	0	0.0052	0.0009	0.0013	0.0007	8.125e-05	0.0016	0.0016	0.0016	0.0016	0.0028	0.0015	0.0014	0.0025	0.0023	9.63e-05	0	0.0003	0	0	0.0043	0	0.0028	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	3403.33	47	chr4	164197069	.	C	T	3403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=1392;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.055;SOR=0.878	GT:AD:DP:GQ:PL	0/1:167,130:297:99:3417,0,4292	18	0	1	0
chr4	165040278	165040278	C	T	exonic	TRIM60	.	nonsynonymous SNV	TRIM60:NM_152620:exon3:c.C206T:p.P69L,TRIM60:NM_001258025:exon4:c.C206T:p.P69L	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00589618283078	0.0003	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0.0003	0.0001229	19	154602	rs148893149	8.14e-05	8.14e-05	5.717e-05	0.0001	0.0005	6.935e-05	6.486e-05	0.0004	0.0003	0	4.472e-05	0	0	0	0	6.295e-05	9.934e-05	0.0005	9.197e-05	9.188e-05	7.711e-05	0.0001	0.0004	5.526e-05	4.364e-05	7.29e-05	5.088e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0	0.0004	0.643	0.11227	T	0.739	0.05786	T	0.0	0.02946	B	0.001	0.04355	B	0.660913	0.05979	N	1.361220	1	0.08975	N	1.185	0.30054	L	-1.73	0.83327	D	-1.44	0.50830	N	0.059	0.03283	-0.9341	0.43530	T	0.260	0.63033	T	10	0.038004518	0.02191	T	0.005896	0.15340	T	0.239	0.54358	.	.	0.126345400529	0.12197	0.2308444979470555	0.22999	0.0383716600576	0.04084	0.382441222668	0.22603	T	0.018352	0.14809	T	-0.336617	0.05626	T	-0.405148	0.32787	T	0.0098757368952685	0.00131	T	0.0475952	0.04194	T	0.024262559	0.01240	0.03669248	0.03167	0.024262559	0.01240	0.03669248	0.03166	-2.973	0.09893	T	.	.	0.148	0.32733	B	.;.;.;.;.	.;.;.;.;.	-0.502848	0.01859	0.150	0.27398135574694393	0.01358	0.00929	0.03605	N	AEFBI	0.030285	0.03017	N	-1.38804073980613	0.02749	0.1218459	-1.44282483160032	0.02836	0.1311837	1.0843844885967E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.21	-1.13	0.09274	-0.919000	0.04125	-4.966000	0.01907	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.457000	0.28051	0.4097:0.2687:0.1866:0.135	1.088	0.01553	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1217.33	34	chr4	165040278	.	C	T	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=716;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.663;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr4	165495613	165495613	C	T	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon8:c.C1268T:p.A423V	.	424	1087	11	0	0	11	0.00503432	.	.	.	720827	not_provided|CPE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0035	0.000798722	0.0040	0.0007	0.0005	0	0.0171	0.0049	0.0088	0.0013	0.0038292	592	154602	rs142920534	0.0047	0.0048	0.0049	0.0046	0.0048	0.0046	0.0046	0.0047	0.0047	0.0007	0.0004	0.0143	0	0.0148	0.0012	0.0048	0.0046	0.0011	0.0045	0.0045	0.0039	0.0052	0.0049	0.0043	0.0041	0.0045	0.0043	0.0006	0.0110	0.0012	0.0161	0	0.0224	0	0.0049	0.0019	0.0008	0.077	0.34095	T	0.169	0.30534	T	0.045	0.21781	B	0.096	0.30313	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.865	0.21413	L	1.15	0.38236	T	-2.63	0.56466	D	0.824	0.81957	-1.0745	0.08452	T	0.053	0.22346	T	10	0.009472847	0.00214	T	.	.	.	0.212	0.50341	.	.	0.591414415077	0.58818	0.8741792497887454	0.87383	0.601913386964	0.55219	0.631652057171	0.57380	T	0.404034	0.76062	T	-0.264307	0.12400	T	-0.14871	0.59359	T	0.0359554029836692	0.02972	T	0.943806	0.78763	D	0.33953655	0.56243	0.30031005	0.56065	0.33953655	0.56243	0.30031005	0.56064	-5.486	0.41737	T	.	.	0.109	0.20780	B	.	.	3.084502	0.41504	21.4	0.9966392022967725	0.78138	0.94382	0.60987	D	AEFDBHCI	0.943691	0.94987	D	0.0628825825756097	0.44737	2.742347	0.284898424449954	0.54658	3.630052	0.99999999999753	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	7.520000	0.80737	4.003000	0.41092	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.717	0.96122	982	0.03397	Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	858.33	35	chr4	165495613	.	C	T	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.244;DP=723;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.265;SOR=0.549	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	18	0	1	0
chr4	166065758	166065758	G	A	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon16:c.G2083A:p.A695T	Atrial septal defect 6, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	3217075	TLL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.00611772823466	0.0003	0.000399361	0.0005	0.0002	0.0015	0	0	0.0007	0	0.0001	0.0004851	75	154602	rs150316679	0.0004	0.0004	0.0004	0.0004	0.0076	0.0004	0.0004	0.0058	0.0052	0.0001	0.0009	0.0041	0	0	0.0076	0.0003	0.0009	0.0001	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0002	0.0001	0	0.0004	0.0029	0	0	0.0068	0.0004	0.0009	0	0.264	0.17126	T	0.549	0.09555	T	0.006	0.13644	B	0.004	0.17295	B	0.000017	0.62929	U	0.068239	0.978728	0.39490	D	-0.96	0.01244	N	2.24	0.17923	T	-0.08	0.12099	N	0.155	0.17002	-0.9996	0.30030	T	0.014	0.05657	T	10	0.009457171	0.00213	T	0.006118	0.16023	T	0.102	0.29158	.	.	0.301789629655	0.29801	0.3169030248986087	0.31603	0.244945792748	0.27014	0.465516358614	0.34066	T	0.022015	0.17048	T	-0.6119	0.00123	T	-0.744464	0.03706	T	0.00158722442574799	0.00016	T	0.743326	0.36245	T	0.05297293	0.09956	0.057643637	0.10515	0.05297293	0.09955	0.057643637	0.10515	0.285	0.00262	T	.	.	0.065	0.01934	B	.;.	.;.	1.205394	0.15976	12.24	0.72003330123005893	0.09822	0.38842	0.26079	N	AEFBI	0.136454	0.25713	N	-1.08633205746721	0.06894	0.3186933	-0.971620459143605	0.10425	0.5250183	0.99894053499343	0.38034	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.97	3.34	0.37357	1.260000	0.32571	0.840000	0.22034	-0.117000	0.14459	0.583000	0.27610	0.060000	0.22018	0.222000	0.22517	0.4339:0.0:0.5661:0.0	6.207	0.19821	899	0.25060	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.005435	0.023392	0.000000	0.008621	0.003049	0.000000	0.02632	1307.33	34	chr4	166065758	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.464;DP=747;ExcessHet=0;FS=1.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.63;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr4	166100813	166100813	G	T	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon21:c.G2979T:p.K993N	Atrial septal defect 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0364909344963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389296302	1.369e-06	1.368e-06	0	2.752e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.267	0.23638	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.955	0.52871	M	1.39	0.33842	T	-1.97	0.45587	N	0.578	0.59986	-0.9451	0.41797	T	0.166	0.50437	T	10	0.45508403	0.58939	T	0.036491	0.57022	D	0.236	0.53931	0.606	0.73825	0.610613400217	0.60748	0.41463259995505686	0.41379	0.936948820389	0.72059	0.641134440899	0.58725	T	0.103572	0.41234	T	-0.113325	0.34219	T	-0.40056	0.33319	T	0.933760166168213	0.60073	D	0.971803	0.89778	D	0.3389265	0.56194	0.23194776	0.48341	0.3389265	0.56194	0.23194776	0.48340	-11.637	0.83038	D	.	.	0.980	0.91221	P	.;.	.;.	4.265301	0.64858	24.8	0.99819505494450234	0.90238	0.98443	0.82831	D	AEFI	0.809264	0.73282	D	0.485218982784912	0.66225	4.922906	0.460366970363978	0.65386	4.817134	0.00781025453097893	0.11547	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.42	3.7	0.41607	5.888000	0.69501	4.567000	0.43865	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1408:0.0:0.8592:0.0	11.970	0.52344	872	0.31118	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1397.33	34	chr4	166100813	.	G	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=777;ExcessHet=0;FS=2.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.415;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr4	168275458	168275458	C	T	exonic	DDX60	.	nonsynonymous SNV	DDX60:NM_017631:exon16:c.G2191A:p.V731I	.	432	1081	6	3	0	12	0.00551978	.	.	.	2820259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.0144953495856	0.0041	0.000599042	0.0039	0.0011	0.0054	0	0.0055	0.0048	0.0067	0.0027	0.0037904	586	154602	rs17853802	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0045	0.0009	2.524e-05	0.0057	0.0023	0.0051	0.0037	0.0029	0.0040	0.0040	0.0040	0.0040	0.0068	0.0037	0.0036	0.0063	0.0061	0.0007	0	0.0032	0.0009	0	0.0048	0	0.0068	0.0043	0.0017	0.43	0.09543	T	0.493	0.11443	T	0.018	0.17786	B	0.015	0.17295	B	0.078053	0.21067	N	0.440664	0.999975	0.18612	N	0.39	0.12200	N	2.4	0.15608	T	-0.43	0.14390	N	0.069	0.04188	-0.9938	0.31617	T	0.017	0.06950	T	10	0.0035449564	0.00064	T	0.014495	0.34657	T	0.011	0.01250	.	.	0.137902524267	0.13322	0.12448782424348202	0.12374	0.131275834207	0.14802	0.24141561985	0.02919	T	0.003285	0.02687	T	-0.742999	0.00020	T	-0.828366	0.01291	T	4.27490194851998e-05	0.00000	T	0.493251	0.15238	T	0.02144217	0.00746	0.025741957	0.00631	0.02144217	0.00746	0.025741957	0.00630	-4.076	0.24935	T	.	.	0.079	0.07507	B	.	.	-1.262852	0.00471	0.010	0.47691831979692767	0.03920	0.01546	0.05073	N	AEFGBI	0.025664	0.01796	N	-1.40475498097985	0.02597	0.1148803	-1.41741239736317	0.03078	0.1428674	0.559684569556126	0.21403	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.37	-1.82	0.07433	-2.766000	0.00852	-9.926000	0.00760	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4141:0.1966:0.3893	6.829	0.23081	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	971.33	34	chr4	168275458	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.768;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	18	0	1	0
chr4	168421789	168421789	C	T	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon17:c.G2365A:p.G789R,DDX60L:NM_001291510:exon17:c.G2365A:p.G789R,DDX60L:NM_001345927:exon17:c.G2365A:p.G789R,DDX60L:NM_001378072:exon18:c.G2365A:p.G789R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0166254589882	.	.	7.422e-05	0	8.639e-05	0	0	0.0001	0	6.058e-05	5.82e-05	9	154602	rs375977740	6.567e-05	6.567e-05	6.534e-05	6.6e-05	0.0014	5.495e-05	5.107e-05	0.0007	0.0005	2.987e-05	6.708e-05	0	0	0	0.0014	6.385e-05	0.0001	5.797e-05	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.218e-05	0	0	0	0	9.43e-05	0	5.88e-05	0	0.0002	0.005	0.72154	D	0.003	0.92824	D	.	.	.	.	.	.	0.001619	0.38497	U	0.000000	0.658597	0.33030	D	.	.	.	2.5	0.14408	T	-6.13	0.92173	D	0.59	0.62357	-0.8646	0.50930	T	0.092	0.35119	T	10	0.39681447	0.55285	T	0.016625	0.37977	T	0.243	0.54921	0.621	0.75576	0.163833314356	0.15978	0.31295354729866975	0.31208	0.193922154726	0.21726	0.499893784523	0.38813	T	0.069889	0.33824	T	-0.232354	0.16338	T	-0.366987	0.37240	T	0.731299996376038	0.42277	D	0.969303	0.88939	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.67877	A	.;.;.;.	.;.;.;.	3.052641	0.40963	21.3	0.99833107683497135	0.91456	0.03827	0.09170	N	ALL	0.292228	0.40315	N	0.173487452203899	0.49930	3.188009	-0.00115636148338605	0.39665	2.355187	1.0	0.98316	0.730579	0.87903	0	0.588015	0.36545	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	3.96	3.96	0.45097	2.295000	0.43236	1.275000	0.25315	0.433000	0.20966	0.606000	0.27796	0.002000	0.18203	0.008000	0.08271	0.0:1.0:0.0:0.0	15.611	0.76461	975	0.05339	.;.;.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1161.33	34	chr4	168421789	.	C	T	1161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=781;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.99;SOR=1.089	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr4	168685513	168685513	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.G143A:p.R48Q,PALLD:NM_001166108:exon6:c.G1289A:p.R430Q,PALLD:NM_016081:exon6:c.G1289A:p.R430Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	133553	not_provided|PALLD-related_disorder|Pancreatic_cancer,_susceptibility_to,_1	MedGen:C3661900|.|MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0929702827713	0.0002	.	0.0003	0	8.637e-05	0	0	0.0001	0.0022	0.0018	0.0003105	48	154602	rs145571230	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	0	2.236e-05	0	2.52e-05	3.747e-05	0.0012	0.0004	0.0002	0.0020	0.0001	0.0001	0.0001	9.419e-05	0.0006	6.514e-05	5.325e-05	0.0002	9.011e-05	2.414e-05	0	0	0	0	9.438e-05	0	0.0002	0	0.0006	0.319	0.23450	T	0.351	0.26798	T	.	.	.	.	.	.	0.021648	0.26791	U	0.000000	0.592046	0.32464	D	0.85	0.21244	L	0.07	0.90147	T	-0.58	0.42384	N	0.174	0.19459	-0.2042	0.77562	T	0.642	0.87493	D	10	0.022705436	0.00574	T	0.09297	0.75988	D	0.154	0.40340	.	.	0.686536311325	0.68385	0.3423466360516373	0.34147	0.265490323693	0.29105	0.337552070618	0.16071	T	0.024891	0.23850	T	-0.290368	0.09600	T	-0.208884	0.53802	T	0.0224750909651064	0.00962	T	0.707729	0.43907	T	.	.	.	.	.	.	.	.	-1.147	0.01453	T	.	.	0.110	0.25100	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.802300	0.54790	23.5	0.99140355699201499	0.53518	0.92922	0.56878	D	AEFGBCI	0.208171	0.33427	N	0.0116171080162301	0.42383	2.552627	0.163453074544534	0.47858	3.009921	0.999999992742033	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.700000	0.46753	5.172000	0.47832	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.153:0.0:0.847:0.0	10.096	0.41651	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2210.33	36	chr4	168685513	.	G	A	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.497;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	247.47	34	chr4	168898668	.	T	C	247.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.592;DP=1085;ExcessHet=0.7564;FS=86.384;InbreedingCoeff=-0.1185;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.627;SOR=8.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,16:82:3:0|1:168898668_T_C:3,0,2082:168898668	15	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,25:82:99:0|1:168898668_T_C:252,0,1040:168898668	13	0	6	0
chr4	168898669	168898669	G	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255C:p.M85I,PALLD:NM_001367569:exon4:c.G255C:p.M85I,PALLD:NM_001166110:exon5:c.G915C:p.M305I,PALLD:NM_001367568:exon5:c.G306C:p.M102I,PALLD:NM_001367570:exon5:c.G306C:p.M102I,PALLD:NM_001166109:exon12:c.G1230C:p.M410I,PALLD:NM_016081:exon13:c.G2376C:p.M792I,PALLD:NM_001166108:exon14:c.G2427C:p.M809I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0303129994836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.34275568	0.51301	T	0.030313	0.52653	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.5074544262074023	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964983	0.63912	D	-0.0991633	0.63462	T	0.555356498867889	0.34679	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.012692	0.59210	24.1	0.96411370448329103	0.29723	0.98568	0.84190	D	AEFBI	0.911900	0.87180	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1481.95	34	chr4	168898669	.	G	C	1481.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:57,0:82:99:0|1:168898668_T_C:252,413,1523:168898668	18	0	1	0
chr4	169136469	169136469	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C917G:p.T306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.024056494603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.329e-05	0.0025	2.715e-05	1.947e-05	2.583e-05	1.67e-05	1.455e-05	1.726e-05	1.459e-05	0	0	3.975e-05	2.583e-05	1.896e-05	0	2.515e-05	5.377e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.275	0.22016	T	0.199	0.29618	B	0.156	0.34472	B	0.000000	0.84330	D	0.043735	1	0.81001	D	2.17	0.60663	M	1.8	0.25344	T	-3.34	0.66325	D	0.582	0.60325	-1.0805	0.07252	T	0.089	0.34325	T	10	0.39489537	0.55155	T	0.024056	0.47042	T	0.176	0.44373	0.295	0.25881	0.510642626009	0.50703	0.443194138562992	0.44237	0.545718134249	0.51591	0.610346972942	0.54365	T	0.30341	0.67576	T	-0.0253806	0.48083	T	-0.274234	0.47390	T	0.896669924259186	0.54843	D	0.871313	0.57716	D	0.2636484	0.49430	0.2724437	0.53155	0.2636484	0.49430	0.2724437	0.53154	-8.722	0.65890	D	.	.	0.324	0.54782	B	.	.	3.552018	0.49937	22.9	0.9932646666211864	0.59584	0.99677	0.98583	D	AEFBHI	0.937630	0.93567	D	0.288675535955983	0.55574	3.721458	0.405293274781445	0.61895	4.396089	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:1.0:0.0	19.722	0.96142	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	678.37	34	chr4	169136469	.	G	C	678.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.226;DP=1348;ExcessHet=0;FS=170.116;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=3.86;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,28:179:99:0|1:169136465_G_A:692,0,6198:169136465	18	0	1	0
chr4	169136470	169136470	T	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.A916G:p.T306A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0215795392975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.45e-06	0.0010	4.123e-06	2.772e-06	2.526e-05	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	2.526e-05	0	0	3.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.009	0.66756	D	0.864	0.47514	P	0.311	0.41430	B	0.000000	0.84330	D	0.043735	1	0.81001	D	2.975	0.85398	M	1.82	0.25018	T	-4.32	0.76655	D	0.705	0.70878	-1.0005	0.29774	T	0.084	0.32957	T	10	0.6542848	0.69782	D	0.02158	0.44367	T	0.213	0.50496	0.328	0.31196	0.663428526802	0.66060	0.6104862764342925	0.60980	0.516753251321	0.49562	0.60030901432	0.52948	T	0.337905	0.70724	T	0.0384574	0.56844	T	-0.182535	0.56289	T	0.990292012691498	0.80512	D	0.941406	0.78138	D	0.32921758	0.55407	0.2909237	0.55117	0.32921758	0.55407	0.2909237	0.55116	-9.276	0.69456	D	.	.	0.542	0.66454	A	.	.	4.092503	0.60962	24.3	0.9928486333502301	0.58043	0.99367	0.95101	D	AEFBHI	0.910213	0.86784	D	0.500506967661061	0.67121	5.039465	0.530955167200043	0.70082	5.453394	0.999999999997725	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.653000	0.82698	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:0.0:1.0	15.869	0.78872	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	681.71	34	chr4	169136470	.	T	C	681.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.176;DP=1348;ExcessHet=0;FS=118.564;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=3.85;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,28:178:99:0|1:169136465_G_A:695,0,6159:169136465	17	0	1	1
chr4	169136471	169136471	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C915G:p.F305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0161862551852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.13	0.34716	T	0.009	0.15093	B	0.012	0.16012	B	0.000000	0.84330	D	0.042141	0.999998	0.58761	D	2.585	0.75554	M	3.66	0.04228	T	-4.77	0.80425	D	0.767	0.76481	-1.0085	0.27385	T	0.015	0.06234	T	10	0.47006297	0.59807	T	0.016186	0.37323	T	0.168	0.42943	0.443	0.49975	0.393159880135	0.38930	0.3289547043960695	0.32808	0.39854003131	0.40905	0.847556710243	0.89244	D	0.281782	0.65451	T	0.0237529	0.54886	T	-0.203657	0.54300	T	0.988253176212311	0.78611	D	0.961204	0.85427	D	0.428689	0.62666	0.2758005	0.53520	0.428689	0.62666	0.2758005	0.53519	-5.812	0.44679	T	.	.	0.997	0.96796	P	.	.	3.513087	0.49210	22.7	0.99301475946825513	0.58650	0.96540	0.69650	D	AEFBHI	0.551111	0.56332	D	-0.153070924339285	0.35104	2.012141	-0.0190504996461991	0.38856	2.295217	0.999983526022094	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	2.018000	0.40610	5.851000	0.50338	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.3216:0.0:0.6784:0.0	6.667	0.22239	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	687.33	34	chr4	169136471	.	G	C	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.114;DP=1340;ExcessHet=0;FS=117.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.75;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	18	0	1	0
chr4	169136475	169136475	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C911G:p.S304C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0447092968979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.829e-05	0.0021	1.532e-05	2.124e-05	2.152e-05	1.237e-05	1.04e-05	1.383e-05	1.173e-05	0	0	0	0	0	0	2.152e-05	3.607e-05	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	3.04	0.08810	T	-4.16	0.75375	D	0.765	0.76296	-1.0993	0.04177	T	0.072	0.29323	T	10	0.83451885	0.82609	D	0.044709	0.61621	D	0.508	0.78848	0.384	0.40298	0.529763130185	0.52623	0.7277342134162761	0.72717	1.07337600161	0.76894	0.688261985779	0.65456	T	0.512749	0.82806	D	0.145562	0.68851	D	-0.0286874	0.68455	D	0.996556997299194	0.89586	D	0.962554	0.86020	D	0.55400306	0.70178	0.40473717	0.64893	0.55400306	0.70179	0.40473717	0.64893	-17.092	0.98987	D	.	.	0.844	0.79463	P	.	.	5.404296	0.90485	31	0.99215734258635513	0.55747	0.99585	0.97709	D	AEFBHI	0.924117	0.90164	D	0.784810032314389	0.85147	8.490072	0.736671654290725	0.85159	8.498	0.999999999728371	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.64	0.57399	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0706:0.0:0.9294:0.0	14.551	0.67654	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	693.33	34	chr4	169136475	.	G	C	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.982;DP=1691;ExcessHet=0;FS=166.007;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=3.51;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:169136465_G_A:707,0,6032:169136465	18	0	1	0
chr4	169136477	169136477	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C909G:p.H303Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0243061443193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.156e-06	0.0010	2.76e-06	5.564e-06	4.565e-06	1.5e-06	9.8e-07	1.34e-06	9.7e-07	0	0	0	0	0	0	4.565e-06	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.157	0.31730	T	0.913	0.50474	P	0.459	0.46380	P	0.000000	0.84330	D	0.043724	0.999998	0.58761	D	2.93	0.84523	M	3.14	0.07920	T	-6.56	0.91868	D	0.613	0.62950	-1.0989	0.04227	T	0.033	0.14334	T	10	0.47221836	0.59931	T	0.024306	0.47297	T	0.167	0.42761	0.288	0.24761	0.446211707333	0.44242	0.5734345921169697	0.57272	0.716424582878	0.61991	0.761596083641	0.76166	T	0.378474	0.74144	T	-0.00434169	0.51053	T	-0.244013	0.50405	T	0.979168593883514	0.72692	D	0.880612	0.59878	D	0.6568651	0.75730	0.590153	0.76221	0.6568651	0.75732	0.590153	0.76222	-12.539	0.87377	D	.	.	0.988	0.92872	P	.	.	4.013672	0.59233	24.1	0.98669276283982044	0.44442	0.98198	0.80457	D	AEFBHI	0.680173	0.64395	D	0.0233294462682727	0.42917	2.595014	0.0416901794853524	0.41672	2.507522	0.999985205507636	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	3.77	0.42499	4.295000	0.58846	5.721000	0.49471	-0.845000	0.02763	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.134:0.0:0.866:0.0	12.635	0.56039	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	688.15	34	chr4	169136477	.	G	C	688.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.422;DP=1721;ExcessHet=0;FS=168.761;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.34;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	16	0	1	2
chr4	169136478	169136478	T	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.A908G:p.H303R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0196691312066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.773e-06	0.0009	0	5.567e-06	3.653e-06	6.5e-07	4.4e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.653e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.144	0.33109	T	0.021	0.18474	B	0.019	0.18783	B	0.000000	0.84330	D	0.043724	1	0.81001	D	2.585	0.75554	M	3.14	0.07920	T	-6.5	0.91609	D	0.67	0.67822	-1.0917	0.05254	T	0.029	0.12365	T	10	0.42911905	0.57372	T	0.019669	0.42091	T	0.198	0.48105	0.331	0.31681	0.464442853059	0.46069	0.6220558457862273	0.62138	0.416131165236	0.42257	0.777079999447	0.78489	T	0.439263	0.78461	T	0.0361664	0.56541	T	-0.185826	0.55979	T	0.98208075761795	0.74284	D	0.955304	0.82980	D	0.7182708	0.79065	0.6675862	0.80504	0.7182708	0.79067	0.6675862	0.80505	-11.659	0.83150	D	.	.	0.979	0.91023	P	.	.	4.110290	0.61357	24.3	0.99210037610494439	0.55563	0.99367	0.95101	D	AEFBHI	0.923699	0.90058	D	0.113300059113423	0.47084	2.939013	0.278643913478168	0.54296	3.594861	0.999999999997725	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.653000	0.82698	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.869	0.78872	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	687.72	34	chr4	169136478	.	T	C	687.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.877;DP=1803;ExcessHet=0;FS=119.069;InbreedingCoeff=-0.0415;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=3.32;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,28:176:99:0|1:169136465_G_A:701,0,6116:169136465	17	0	1	1
chr4	169136479	169136479	G	C	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon5:c.C907G:p.H303D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0200837280965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.768e-06	0.0012	1.379e-06	4.168e-06	2.524e-05	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	2.524e-05	0	0	2.734e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.014	0.62352	D	0.955	0.54515	P	0.616	0.51268	P	0.000000	0.84330	D	0.043724	1	0.81001	D	2.93	0.84523	M	3.14	0.07920	T	-7.38	0.94702	D	0.72	0.72209	-1.1866	0.00281	T	0.050	0.21143	T	10	0.6996175	0.72360	D	0.020084	0.42598	T	0.395	0.71004	0.308	0.27967	0.53586618445	0.53237	0.6771464697966925	0.67653	0.958108681369	0.72899	0.772674202919	0.77825	T	0.518568	0.83121	D	0.204993	0.74359	D	0.0566817	0.74024	D	0.993831634521484	0.84805	D	0.949755	0.80719	D	0.77504814	0.82351	0.77999353	0.87029	0.77504814	0.82353	0.77999353	0.87030	-18.062	0.99549	D	.	.	0.996	0.96165	P	.	.	5.397624	0.90402	31	0.99451182820068418	0.65274	0.99677	0.98583	D	AEFBHI	0.938122	0.93686	D	0.745492957135097	0.82611	7.80552	0.766892329695355	0.87413	9.213568	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	9.575000	0.97347	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.722	0.96142	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	693.33	34	chr4	169136479	.	G	C	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.304;DP=1179;ExcessHet=0;FS=167.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=3.15;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:169136465_G_A:707,0,6032:169136465	18	0	1	0
chr4	169433624	169433624	C	T	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon24:c.G2323A:p.G775R,NEK1:NM_001199399:exon26:c.G2515A:p.G839R,NEK1:NM_001199400:exon26:c.G2590A:p.G864R,NEK1:NM_001374420:exon27:c.G2671A:p.G891R,NEK1:NM_012224:exon27:c.G2722A:p.G908R,NEK1:NM_001199398:exon28:c.G2674A:p.G892R,NEK1:NM_001374418:exon28:c.G2806A:p.G936R,NEK1:NM_001374419:exon28:c.G2722A:p.G908R,NEK1:NM_001199397:exon29:c.G2806A:p.G936R	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0249401505495	.	.	8.305e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs752830071	1.3e-05	1.3e-05	1.498e-05	1.101e-05	0.0003	8.32e-06	6.7e-06	6.099e-05	2.524e-05	0	2.236e-05	0	0	0	0.0003	1.349e-05	1.658e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.343	0.13834	T	0.501	0.11153	T	0.001	0.14655	B	0.002	0.11217	B	0.695417	0.06171	N	1.161110	1	0.08975	N	0.375	0.12094	N	-0.27	0.67712	T	-0.32	0.13611	N	0.026	0.06454	-0.9787	0.35299	T	0.156	0.48807	T	10	0.06366277	0.08326	T	0.02494	0.47924	T	0.117	0.32689	0.052	0.00113	0.558342666981	0.55495	0.023906102697269175	0.02341	0.062132196771	0.06914	0.236442580819	0.02479	T	0.038653	0.24916	T	-0.30317	0.08363	T	-0.590394	0.13631	T	0.02988499095839	0.01971	T	0.737626	0.35462	T	0.07507729	0.16890	0.06736327	0.13927	0.07507729	0.16890	0.06736327	0.13926	-4.27	0.28093	T	0.12679892857863995	0.12867	0.067	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.776407	0.11463	8.069	0.53384445741817477	0.04929	0.00534	0.02469	N	AEFI	0.028899	0.02629	N	-1.15316192700333	0.05728	0.2618932	-1.20080478017383	0.05898	0.2823223	0.983745138953857	0.30608	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.65	-4.06	0.03718	0.505000	0.22352	-0.235000	0.10642	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.2921:0.0:0.7079	13.557	0.61225	907	0.22727	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	35	chr4	169433624	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.493;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.43;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1232	18	0	1	0
chr4	169719961	169719961	G	A	exonic	CLCN3	.	nonsynonymous SNV	CLCN3:NM_173872:exon14:c.G2497A:p.G833S	.	381	1117	24	0	0	24	0.0106289	.	.	.	2820272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	.	0.0025	0.00399361	0.0043	0.0008	0.0021	0	0.0018	0.0050	0.0066	0.0085	0.0042496	657	154602	rs149400550	0.0038	0.0038	0.0036	0.0040	0.0218	0.0037	0.0037	0.0187	0.0176	0.0014	0.0031	0.0370	0	0.0020	0.0218	0.0027	0.0062	0.0090	0.0035	0.0035	0.0034	0.0035	0.0083	0.0032	0.0031	0.0063	0.0056	0.0007	0.0011	0.0039	0.0340	0	0.0021	0.0136	0.0035	0.0062	0.0083	0.0	0.91255	D	0.0	0.92824	D	0.349	0.33622	B	0.036	0.22909	B	0.425153	0.12820	N	0.775091	1	0.81001	D	.	.	.	-2.73	0.90679	D	-0.38	0.13418	N	0.277	0.31365	-0.0975	0.80155	T	0.507	0.81454	D	9	0.005770564	0.00129	T	.	.	.	0.252	0.56159	.	.	0.635868023284	0.63288	0.68435815397961	0.68374	2.05480476206	0.94368	0.5796636343	0.50039	T	.	.	.	-0.227054	0.17040	T	-0.0928096	0.63950	T	0.0484960841961616	0.05232	T	0.927507	0.73308	D	.	.	.	.	.	.	.	.	-5.476	0.41643	T	.	.	0.101	0.17360	B	.	.	1.412660	0.18282	13.65	0.99831642735742931	0.91370	0.97521	0.75291	D	AEFBI	0.822896	0.74312	D	0.164419337160632	0.49496	3.149393	0.290658596066928	0.54991	3.662906	0.998926984589502	0.37985	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.55	0.55429	8.182000	0.89644	9.959000	0.82782	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0739:0.0:0.9261:0.0	13.831	0.62876	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019211	0.000000	0.017663	0.055556	0.000000	0.025862	0.006098	0.007634	0.02632	808.33	33	chr4	169719961	.	G	A	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.538;DP=665;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.024;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	18	0	1	0
chr4	169750647	169750647	T	C	exonic	HPF1	.	nonsynonymous SNV	HPF1:NM_017867:exon3:c.A287G:p.K96R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0180116462461	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769075626	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.412	0.14456	T	0.011	0.15914	B	0.025	0.20508	B	0.228534	0.15973	N	0.662510	0.978963	0.25214	N	.	.	.	0.94	0.43672	T	-0.95	0.25332	N	0.165	0.17416	-1.0116	0.26416	T	0.084	0.32929	T	10	0.07988882	0.12903	T	0.018012	0.39926	T	0.034	0.08419	0.307	0.27806	0.266843984389	0.26308	0.3842719445496628	0.38342	0.0427295893604	0.04608	.	.	.	0.009996	0.09062	T	-0.374135	0.03390	T	-0.538527	0.18442	T	0.0797411352396011	0.09954	T	0.390761	0.09705	T	0.06406122	0.13553	0.06866185	0.14367	0.06406122	0.13553	0.06866185	0.14367	-4.971	0.36523	T	.	.	0.071	0.04002	B	.	.	2.405774	0.30914	18.58	0.91512817804916036	0.20788	0.79313	0.39278	D	AEBI	0.126409	0.24334	N	-0.576775473836061	0.19652	1.030181	-0.52485230749125	0.21479	1.162158	0.00162945537644727	0.08719	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	3.81	0.43020	2.755000	0.47219	1.495000	0.26916	0.498000	0.22619	1.000000	0.71638	0.972000	0.29809	0.932000	0.46971	0.0:0.1736:0.0:0.8264	7.852	0.28622	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	762.33	33	chr4	169750647	.	T	C	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.144;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.228;SOR=0.72	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1149	18	0	1	0
chr4	170069224	170069224	C	T	exonic	AADAT	.	nonsynonymous SNV	AADAT:NM_016228:exon7:c.G727A:p.V243I,AADAT:NM_001286682:exon8:c.G739A:p.V247I,AADAT:NM_001286683:exon8:c.G727A:p.V243I,AADAT:NM_182662:exon8:c.G727A:p.V243I	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0062	0.000599042	0.0074	0.0016	0.0010	0.0001	0.0072	0.0112	0.0047	0.0042	0.0071668	1108	154602	rs56350236	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0094	0.0093	0.0013	0.0013	0.0018	0	0.0075	0.0038	0.0096	0.0060	0.0047	0.0062	0.0062	0.0065	0.0059	0.0090	0.0058	0.0057	0.0084	0.0081	0.0019	0.1557	0.0020	0.0026	0	0.0042	0	0.0090	0.0028	0.0046	0.151	0.24758	T	0.186	0.28860	T	0.0	0.02946	B	0.001	0.04355	B	0.200383	0.16615	N	0.646743	0.998651	0.23976	N	0.71	0.18616	N	0.98	0.42122	T	-0.71	0.20145	N	0.04	0.01347	-1.0461	0.15505	T	0.046	0.19640	T	10	0.0036104321	0.00065	T	.	.	.	0.042	0.11227	.	.	0.234412748748	0.23057	0.3100861838158231	0.30921	0.684812685529	0.60241	0.238241866231	0.02634	T	0.478648	0.80838	T	-0.665037	0.00059	T	-0.716379	0.04972	T	0.00381639220226568	0.00040	T	0.756024	0.37907	T	0.15386915	0.34857	0.07422501	0.16214	0.15386915	0.34857	0.07422501	0.16214	-5.023	0.37089	T	.	.	0.097	0.15877	B	.;.;.;.	.;.;.;.	1.259785	0.16572	12.63	0.9611711693001197	0.28762	0.26903	0.23126	N	AEFBI	0.143250	0.26590	N	-0.694861612975304	0.16168	0.8213038	-0.605926738148207	0.19340	1.037213	0.0147704955087043	0.12635	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.24	3.51	0.39297	0.459000	0.21619	-2.929000	0.03220	0.599000	0.40250	0.054000	0.21560	0.000000	0.08366	0.889000	0.42754	0.0:0.7432:0.1239:0.1329	8.475	0.32166	656	0.62345	Aminotransferase, class I/classII;.;Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.000000	0.000000	0.008621	0.015432	0.000000	0.02632	1177.33	34	chr4	170069224	.	C	T	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=734;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.228;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr4	173009229	173009229	G	A	exonic	GALNTL6	.	nonsynonymous SNV	GALNTL6:NM_001034845:exon11:c.G1423A:p.G475R	.	.	.	.	.	.	.	.	.	.	.	2251447	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.591	0.108753307414	7.7e-05	.	4.119e-05	0	0	0	0	1.498e-05	0	0.0002	3.23e-05	5	154602	rs137921635	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	0	4.472e-05	0	2.519e-05	0	0.0002	1.079e-05	0	0.0003	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.092	0.31682	T	0.162	0.31225	T	1.0	0.90584	D	0.956	0.69739	D	0.013823	0.28718	N	0.297943	0.999997	0.58761	D	2.435	0.70606	M	-1.49	0.81235	T	-1.31	0.34795	N	0.801	0.82458	0.314	0.87780	D	0.632	0.87098	D	10	0.60034883	0.66877	D	0.108753	0.78543	D	0.591	0.83691	0.678	0.81594	0.649488580756	0.64657	0.7917796178389209	0.79129	1.54196274361	0.87728	0.82482278347	0.85768	D	0.038536	0.24874	T	-0.133965	0.30855	T	-0.134016	0.60632	T	0.340466350962774	0.26642	T	0.962554	0.86020	D	0.13629156	0.31601	0.15296629	0.35965	0.13629156	0.31601	0.15296629	0.35965	-7.954	0.62848	D	.	.	0.903	0.82973	P	.;.;.	.;.;.	5.460006	0.91156	32	0.99217911938853554	0.55808	0.85629	0.44782	D	AEFGCI	0.633783	0.61390	D	0.244426067117685	0.53364	3.505565	0.124652390470189	0.45813	2.837885	0.999807048089623	0.43304	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.55	4.71	0.59010	7.272000	0.77907	11.689000	0.94328	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.145000	0.20128	0.0728:0.0:0.9272:0.0	14.215	0.65334	952	0.10565	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;.;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2010.33	33	chr4	173009229	.	G	A	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=793;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.515;SOR=0.944	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1410	18	0	1	0
chr4	173529010	173529010	C	T	exonic	HAND2	.	nonsynonymous SNV	HAND2:NM_021973:exon1:c.G280A:p.G94R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.646887395252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.22	0.25907	T	0.846	0.46778	P	0.209	0.37260	B	0.000088	0.51296	D	0.076564	0.894441	0.36026	D	1.5	0.37844	L	-4.18	0.96882	D	-1.82	0.42763	N	0.307	0.34659	0.288	0.87370	D	0.622	0.86680	D	10	0.4452568	0.58355	T	0.646887	0.97003	D	0.403	0.71636	0.268	0.21576	0.993074464793	0.99299	0.5448411735642519	0.54410	1.21311497561	0.80885	0.934179544449	0.99206	D	0.401789	0.75900	T	0.132843	0.67637	D	-0.0469572	0.67230	D	0.842109262943268	0.49500	D	0.769523	0.39899	T	0.1824749	0.39468	0.30801705	0.56822	0.1824749	0.39468	0.30801705	0.56821	-5.347	0.40406	T	.	.	0.679	0.72111	P	.	.	4.737052	0.76355	26.5	0.99248018374733693	0.56759	0.87478	0.47030	D	ALL	0.824832	0.74465	D	-0.0726011672390702	0.38597	2.263054	0.0121408146774836	0.40278	2.401191	0.999999981570368	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.02	4.02	0.45968	3.022000	0.49342	7.464000	0.59083	0.517000	0.23534	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.9028:0.0:0.0972	9.757	0.39675	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1812.33	35	chr4	173529010	.	C	T	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=746;ExcessHet=0;FS=1.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.46;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S	.	441	1040	41	0	0	41	0.0193305	.	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019134	0.005051	0.013587	0.040936	0.000000	0.025862	0.006098	0.022727	0.05263	1489.83	34	chr4	174259787	.	T	C	1489.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=709;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.635;SOR=0.763	GT:AD:DP:GQ:PL	0/1:31,23:54:99:563,0,786	17	0	2	0
chr4	174518075	174518075	T	C	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_000860:exon3:c.A220G:p.T74A,HPGD:NM_001145816:exon3:c.A220G:p.T74A,HPGD:NM_001256305:exon3:c.A220G:p.T74A,HPGD:NM_001363574:exon3:c.A220G:p.T74A	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2142871	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.0422313401389	0.0002	0.000199681	3.664e-05	0.0002	9.369e-05	0	0	1.702e-05	0	0	3.23e-05	5	154602	rs142173308	2.281e-05	3.227e-05	2.145e-05	2.416e-05	0.0005	1.618e-05	1.405e-05	0.0003	0.0002	0.0005	6.763e-05	0	0	0	0	6.129e-06	0.0001	0	0.0001	0.0001	0.0002	6.711e-05	0.0003	7.084e-05	5.742e-05	0.0002	0.0002	0.0003	0	6.536e-05	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.05327	T	0.001	0.16265	B	0.002	0.11217	B	0.000000	0.84330	D	0.046992	0.995347	0.81001	D	-1.34	0.00672	N	-2.08	0.86010	D	1.47	0.00765	N	0.304	0.35620	-0.6630	0.62144	T	0.249	0.61866	T	10	0.056429744	0.06324	T	0.042231	0.60356	D	0.318	0.64008	.	.	0.759047345562	0.75685	0.4598511824898102	0.45903	0.0287596910294	0.02960	0.390571981668	0.23750	T	0.285707	0.65849	T	-0.261128	0.12768	T	-0.316676	0.42937	T	0.0241790478613234	0.01168	T	0.727427	0.34191	T	0.42885974	0.62677	0.17195168	0.39415	0.42885974	0.62678	0.17195168	0.39414	-3.752	0.20089	T	.	.	0.082	0.15341	B	.;.;.;.	.;.;.;.	1.658623	0.21151	15.07	0.27832387797735186	0.01401	0.77637	0.38196	D	AEFI	0.254196	0.37356	N	-0.461054284927129	0.23367	1.25432	-0.166937678724153	0.32761	1.867123	0.999998609806143	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.178000	0.50579	3.543000	0.39013	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0793:0.0:0.9207	9.560	0.38527	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	786.33	34	chr4	174518075	.	T	C	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.36;DP=688;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.713;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr4	174977795	174977795	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2270T:p.S757F,ADAM29:NM_001130705:exon3:c.C2270T:p.S757F,ADAM29:NM_001130703:exon4:c.C2270T:p.S757F,ADAM29:NM_001130704:exon4:c.C2270T:p.S757F,ADAM29:NM_014269:exon5:c.C2270T:p.S757F,ADAM29:NM_001278125:exon6:c.C2270T:p.S757F,ADAM29:NM_001278126:exon6:c.C2270T:p.S757F	.	.	.	.	.	.	.	.	.	.	.	86261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00319089128695	0.0002	0.000998403	0.0003	0	8.669e-05	0	0	6.045e-05	0	0.0016	0.0002329	36	154602	rs199820660	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	3.004e-05	0.0002	3.907e-05	0	0	0.0018	0.0001	0.0003	0.0026	0.0003	0.0003	0.0003	0.0003	0.0040	0.0003	0.0002	0.0026	0.0022	7.228e-05	0	0.0009	0	0	0	0	0.0002	0.0005	0.0040	0.001	0.78490	D	0.021	0.58089	D	0.939	0.52645	P	0.228	0.38116	B	.	.	.	.	0.925572	0.27189	N	0	0.06538	N	4.47	0.02084	T	-0.94	0.25118	N	0.188	0.21319	-0.8566	0.51505	T	0.004	0.01192	T	8	0.010384679	0.00231	T	0.003191	0.06996	T	0.050	0.13987	.	.	0.270889551736	0.26708	0.04944758459222851	0.04887	0.0814810227161	0.09168	0.276448369026	0.07002	T	0.004487	0.03897	T	-0.555266	0.00271	T	-0.663113	0.08058	T	0.032044793012035	0.02313	T	0.747925	0.36851	T	0.07300713	0.16283	0.096838266	0.23025	0.07300713	0.16283	0.096838266	0.23024	-8.535	0.64660	D	.	.	0.119	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	1.047656	0.14288	10.86	0.91370450536929981	0.20635	0.05044	0.10831	N	AEFBI	0.038253	0.05385	N	-0.828306781309643	0.12590	0.6146466	-1.00121221971855	0.09758	0.4873878	5.42425899185962E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.537	0.537	0.16337	0.459000	0.21619	.	.	0.320000	0.19365	0.000000	0.06391	.	.	0.040000	0.14268	0.0:0.9999:0.0:1.0E-4	6.827	0.23070	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02778	8352.71	34	chr4	174977795	.	C	T	8352.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.501;DP=1946;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=-1.033;QD=11.78;ReadPosRankSum=-0.652;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	17	0	1	1
chr4	176096560	176096560	A	G	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378103:exon2:c.A41G:p.D14G,WDR17:NM_170710:exon2:c.A41G:p.D14G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0325420795069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480602777	2.759e-06	3.42e-06	0	5.545e-06	3.616e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.616e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.0	0.92824	D	0.536	0.37827	P	0.091	0.29943	B	0.000111	0.50451	D	0.000000	1	0.81001	D	0	0.06538	N	0.29	0.58897	T	-0.1	0.08495	N	0.833	0.83781	-0.9723	0.36712	T	0.103	0.37919	T	10	0.68421155	0.71462	D	0.032542	0.54336	D	0.142	0.37995	0.387	0.40788	0.795510299367	0.79361	0.4742024181771265	0.47339	0.588328660276	0.54380	0.692150592804	0.66015	T	0.008938	0.08170	T	0.0784552	0.61859	D	-0.125081	0.61383	T	0.819668412208557	0.47748	D	0.79582	0.43907	T	0.16452813	0.36666	0.23964126	0.49318	0.16452813	0.36666	0.23964126	0.49317	-3.286	0.13558	T	.	.	0.108	0.27939	B	.;.	.;.	3.634752	0.51511	23.1	0.9979588408164658	0.88106	0.94880	0.62650	D	AEFI	0.590100	0.58672	D	0.0824078791410881	0.45644	2.817444	0.249417302056684	0.52616	3.435309	0.355103760932194	0.19722	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.671000	0.67765	9.186000	0.79105	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.359	0.66316	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2144.33	37	chr4	176096560	.	A	G	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.119;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr4	176683966	176683966	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon7:c.G1220A:p.R407H	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00864073040337	.	.	4.141e-05	0.0001	0	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs776421656	4.378e-05	4.378e-05	4.084e-05	4.675e-05	0.0002	3.509e-05	3.193e-05	7.123e-05	5.481e-05	0.0001	0	0	5.039e-05	0	0.0002	3.867e-05	3.312e-05	0.0001	4.599e-05	4.596e-05	2.569e-05	6.725e-05	7.238e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	7.238e-05	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.114	0.36765	T	0.877	0.48223	P	0.139	0.33484	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	.	.	.	.	.	.	0.327	0.36779	-0.7765	0.56498	T	0.156	0.48841	T	9	0.3295274	0.50204	T	0.008641	0.22829	T	.	.	.	.	0.332902724076	0.32905	0.550696865296671	0.54995	.	.	0.599817633629	0.52878	T	0.354833	0.72193	T	-0.128771	0.31694	T	-0.186078	0.55957	T	0.349131281526967	0.26985	T	0.913009	0.68959	D	0.36047047	0.57871	0.2196709	0.46714	0.36047047	0.57872	0.2196709	0.46713	-6.843	0.52878	T	.	.	0.114	0.22753	B	.	.	3.634251	0.51500	23.1	0.99859539471104919	0.93820	0.88286	0.48145	D	AEFBCI	0.627449	0.60990	D	0.342994399856481	0.58371	4.008866	0.416882294863327	0.62617	4.480065	0.999999903235599	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	5.343000	0.65746	3.328000	0.37603	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:1.0:0.0:0.0	19.922	0.97094	939	0.14249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	33	chr4	176683966	.	C	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=742;ExcessHet=0;FS=10.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.285;SOR=0.974	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	18	0	1	0
chr4	176687827	176687827	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon5:c.G805A:p.G269R	Lymphedema, hereditary, ID, Autosomal dominant	426	1092	4	0	0	4	0.00182815	.	.	.	1678374	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.00190281428305	0.0005	0.000199681	0.0005	0.0003	0.0004	0	0	0.0006	0	0.0003	0.0003881	60	154602	rs200182587	0.0003	0.0003	0.0003	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	0.0003	0.0004	0.0001	2.526e-05	5.621e-05	0.0021	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0001	0	0.0005	0	0	0	0	0.0005	0.0009	0.0002	.	.	.	0.456	0.12740	T	0.361	0.33905	B	0.08	0.28873	B	0.293628	0.14723	N	0.667560	0.988206	0.24436	N	2.14	0.59869	M	.	.	.	.	.	.	0.429	0.46835	-0.9694	0.37324	T	0.135	0.44933	T	9	0.09688923	0.17411	T	0.001903	0.03351	T	.	.	0.173	0.07894	0.338834610459	0.33488	0.4518646572817801	0.45104	.	.	0.377613306046	0.21918	T	0.273117	0.64554	T	-0.295824	0.09058	T	-0.315536	0.43061	T	0.0378680527210236	0.03310	T	0.59804	0.22252	T	0.09629886	0.22679	0.11062325	0.26674	0.09629886	0.22678	0.11062325	0.26674	-4.848	0.35145	T	.	.	0.079	0.07083	B	.	.	2.782802	0.36562	20.3	0.99572157510162251	0.72440	0.87758	0.47407	D	AEFBI	0.470609	0.51650	N	0.00655748355890749	0.42154	2.534489	0.0867290935354254	0.43879	2.680666	0.999985346233981	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	4.186000	0.58135	5.962000	0.51841	0.594000	0.32500	0.845000	0.30364	0.858000	0.27459	0.337000	0.25363	0.0:1.0:0.0:0.0	19.401	0.94618	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1455.33	34	chr4	176687827	.	C	T	1455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=750;ExcessHet=0;FS=1.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.455;SOR=0.985	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,6:72:99:.:.:176,0,2277:.	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,15:77:99:0|1:176711631_G_C:233,0,2272:176711631	4	0	14	1
chr4	176711632	176711632	G	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C571T:p.P191S	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.012111681447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.501e-06	6.628e-05	6.356e-06	1.262e-05	3.735e-05	5.07e-06	4e-06	9.92e-06	4.75e-06	0	0	4.437e-05	0	0	0	8.388e-06	0	3.735e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.39190	T	0.969	0.56768	D	0.506	0.47823	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.05	0.26816	L	.	.	.	.	.	.	0.801	0.79696	-0.7984	0.55238	T	0.197	0.55215	T	9	0.78304553	0.78015	D	0.012112	0.30386	T	.	.	0.392	0.41606	0.422160833541	0.41830	0.5775749913387078	0.57686	.	.	0.679022789001	0.64128	T	0.802173	0.94968	D	0.204474	0.74311	D	0.0559363	0.73976	D	0.992387890815735	0.82850	D	0.867413	0.56831	D	0.8505967	0.87380	0.63900787	0.78915	0.8505967	0.87381	0.63900787	0.78916	-10.241	0.75342	D	.	.	0.811	0.77802	P	.	.	5.240050	0.87964	29.4	0.99773676887447327	0.86174	0.99034	0.90260	D	AEFDGBIJ	0.931855	0.92131	D	0.636068179106001	0.75470	6.311549	0.729981346275755	0.84655	8.352862	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2813.26	78	chr4	176711632	.	G	A	2813.26	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.025;DP=1646;ExcessHet=17.0548;FS=123.578;InbreedingCoeff=-0.6179;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=0.728;SOR=11.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:61,0:76:99:0|1:176711631_G_C:236,418,2712:176711631	17	0	1	1
chr4	177362292	177362292	G	T	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon10:c.G1639T:p.A547S	.	436	1082	4	0	0	4	0.00184502	.	.	.	2820286	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.379	0.041363763725	0.0038	0.00159744	0.0035	0.0011	0.0020	0	0.0015	0.0055	0.0045	6.682e-05	0.0034476	533	154602	rs36005630	0.0049	0.0049	0.0050	0.0048	0.0060	0.0048	0.0048	0.0058	0.0058	0.0010	0.0022	7.908e-05	2.542e-05	0.0021	0.0034	0.0060	0.0042	8.482e-05	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0049	0.0047	0.0008	0.0044	0.0022	0	0	0.0017	0.0136	0.0054	0.0028	0.0002	0.011	0.55530	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.61	0.76335	M	1.8	0.25344	T	-1.4	0.34596	N	0.552	0.57775	-0.8701	0.50522	T	0.116	0.41120	T	10	0.014539331	0.00306	T	0.041364	0.59888	D	0.379	0.69696	.	.	0.498830998431	0.49518	0.32259066869747194	0.32172	0.570982421097	0.53242	0.566270709038	0.48152	T	0.068972	0.33593	T	-0.361487	0.04046	T	-0.285771	0.46209	T	0.033225995942482	0.02508	T	0.893711	0.63166	D	0.65656847	0.75715	0.41561836	0.65670	0.65656847	0.75716	0.41561836	0.65671	-7.185	0.55373	T	.	.	0.230	0.46214	B	.	.	4.631241	0.73641	26.0	0.9970892665413007	0.81213	0.98880	0.88090	D	AEFDBI	0.888430	0.82154	D	0.675755343885018	0.78042	6.792921	0.621898073340892	0.76533	6.508625	0.999999860680663	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.16	4.31	0.50718	9.719000	0.97996	11.852000	0.98107	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:0.8586:0.1414	15.285	0.73524	896	0.25515	Zinc finger, GRF-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	943.33	33	chr4	177362292	.	G	T	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.167;DP=679;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.286;SOR=0.56	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr4	177431784	177431784	G	A	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon9:c.C965T:p.T322I,AGA:NM_001171988:exon9:c.C935T:p.T312I	Aspartylglucosaminuria, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	367915	Inborn_genetic_diseases|not_specified|not_provided|Aspartylglucosaminuria	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00339457	0.0011	0.0115	0.0005	0	0	4.589e-05	0	0	0.0010349	160	154602	rs56849061	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	0.0115	0.0005	0	2.522e-05	0	0.0009	6.296e-06	0.0008	1.159e-05	0.0038	0.0038	0.0039	0.0038	0.0134	0.0036	0.0035	0.0125	0.0121	0.0134	0	0.0014	0	0	0	0.0034	2.941e-05	0.0009	0	0.184	0.21634	T	0.213	0.26467	T	0.007	0.14184	B	0.015	0.17295	B	0.000512	0.43753	D	0.286026	0.780437	0.29339	N	2.39	0.68882	M	-2.11	0.86216	D	-1.41	0.34795	N	0.239	0.26957	-0.5667	0.66146	T	0.367	0.72689	T	10	0.009900689	0.00222	T	.	.	.	0.221	0.51721	.	.	0.852263009808	0.85084	0.8306621336460717	0.83025	0.118005060734	0.13285	0.341885328293	0.16720	T	0.424951	0.77522	T	-0.393723	0.02545	T	-0.326009	0.41911	T	0.0244605949806927	0.01203	T	0.783622	0.42065	T	0.17643766	0.38556	0.18251637	0.41184	0.22234553	0.44832	0.15940236	0.37177	-6.787	0.52462	T	.	.	0.106	0.19518	B	.	.	2.478481	0.31957	18.90	0.98214089204434396	0.39237	0.93959	0.59690	D	AEFBI	0.531653	0.55184	D	-0.155044765214539	0.35020	2.00631	0.00938837007787127	0.40149	2.391568	0.0472952059154961	0.14724	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.87	3.02	0.33970	3.065000	0.49687	1.694000	0.28089	0.676000	0.76740	1.000000	0.71638	0.023000	0.20922	0.998000	0.85391	0.0:0.3135:0.4485:0.2381	8.087	0.29937	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1019.33	33	chr4	177431784	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=720;ExcessHet=0;FS=2.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.917;SOR=0.439	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1399	18	0	1	0
chr4	182681928	182681928	A	T	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon11:c.A1949T:p.D650V	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0358735553108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.002	0.79402	D	0.633	0.40250	P	0.306	0.41250	B	.	.	.	.	1	0.81001	D	2.2	0.62015	M	4.0	0.03239	T	-5.89	0.88767	D	0.712	0.71498	-1.1442	0.01209	T	0.025	0.10643	T	9	0.65178907	0.69645	D	0.035874	0.56631	D	0.248	0.55615	0.409	0.44395	0.239312915715	0.23560	0.5857603565133537	0.58506	1.0918701912	0.77457	0.497563689947	0.38489	T	0.663591	0.89934	D	0.0424333	0.57364	T	-0.176824	0.56816	T	0.975364089012146	0.70902	D	0.939806	0.77272	D	0.3734384	0.58838	0.46196255	0.68759	0.3734384	0.58838	0.46196255	0.68759	-7.785	0.59595	D	0.6507615619397493	0.72285	0.456	0.62503	A	.	.	3.684087	0.52454	23.2	0.99408682602591236	0.63169	0.98904	0.88416	D	AEFBI	0.913913	0.87656	D	0.547515203872012	0.69931	5.427675	0.597729164455419	0.74777	6.195061	0.999993587153647	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	11.289000	0.91974	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	1.0:0.0:0.0:0.0	15.776	0.77985	954	0.10045	EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1529.33	33	chr4	182681928	.	A	T	1529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=727;ExcessHet=0;FS=2.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.022;SOR=0.98	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr4	182688220	182688220	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon12:c.G2090A:p.R697H	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	734530	not_provided|TENM3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.00943851202422	0.0010	0.000599042	0.0005	0.0043	0.0003	0	0	9.003e-05	0	0.0005	0.0004334	67	154602	rs147392905	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0038	0.0035	0.0043	0.0005	0	2.519e-05	0	0.0003	1.619e-05	0.0005	0.0004	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0010	0	0	0	0	0	0.0009	0.0002	0.078	0.33923	T	0.004	0.74150	D	0.998	0.73220	D	0.943	0.67921	D	.	.	.	.	1	0.81001	D	0.845	0.21182	L	3.99	0.03268	T	-2.4	0.52776	N	0.399	0.43995	-1.1333	0.01631	T	0.022	0.09330	T	9	0.015226215	0.00320	T	0.009439	0.24739	T	0.169	0.43123	.	.	0.043077524339	0.03247	0.4476483658891146	0.44682	1.03523104883	0.75559	0.361477971077	0.19601	T	0.24758	0.61725	T	-0.537995	0.00344	T	-0.544615	0.17846	T	0.024290763252915	0.01182	T	0.941106	0.78031	D	0.110465616	0.26111	0.14016227	0.33418	0.110465616	0.26110	0.14016227	0.33417	-3.235	0.12914	T	0.26188214933912696	0.35349	0.074	0.05060	B	.	.	4.284289	0.65289	24.8	0.99737854095589951	0.83264	0.93385	0.58075	D	AEFDBIJ	0.570023	0.57457	D	0.529417651661916	0.68836	5.272563	0.496932811309424	0.67786	5.130896	0.99535141405875	0.34082	0.706298	0.61202	0	0.573888	0.26702	0	0.693117	0.63056	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	4.697000	0.61467	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.408000	0.26961	0.0:0.0:1.0:0.0	18.857	0.92225	992	0.01359	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1544.33	33	chr4	182688220	.	G	A	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=740;ExcessHet=0;FS=6.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.011;SOR=0.967	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr4	182773536	182773536	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon23:c.G4957A:p.G1653R	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0274089538049	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762748213	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.319	0.19188	T	0.917	0.50750	P	0.421	0.45113	B	.	.	.	.	0.999707	0.48408	D	0	0.06538	N	-2.0	0.85393	D	-0.63	0.18459	N	0.453	0.49055	-0.4494	0.70420	T	0.306	0.67694	T	9	0.22815627	0.39713	T	0.027409	0.50222	D	0.476	0.76816	0.447	0.50629	0.260580752073	0.25663	0.6704695424240541	0.66984	0.367028223889	0.38272	0.690092921257	0.65719	T	0.045427	0.27120	T	0.253115	0.78892	D	0.125806	0.78618	D	0.413473364928087	0.29447	T	0.873813	0.58316	D	0.1366303	0.31667	0.22479966	0.47403	0.1366303	0.31666	0.22479966	0.47402	-3.547	0.17096	T	0.18616930833788087	0.24219	0.391	0.59045	A	.	.	4.750526	0.76703	26.6	0.96291833613261257	0.29318	0.92252	0.55286	D	AEFGBI	0.362128	0.45149	N	0.0829722116189971	0.45670	2.819617	0.244559422937701	0.52340	3.409538	0.999992709067219	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	2.380000	0.43982	8.646000	0.77914	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.075	0.93139	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1247.33	34	chr4	182773536	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=723;ExcessHet=0;FS=1.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.09;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr4	183319606	183319606	G	A	exonic	CLDN22	.	stopgain	CLDN22:NM_001111319:exon1:c.C613T:p.Q205X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0009	0	0.0003	0	0	0	0	0.0062	0.0007697	119	154602	rs544421553	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	5.977e-05	0.0001	0	0	0	0.0002	5.396e-06	0.0003	0.0053	0.0002	0.0002	8.994e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0	0	0	0	0	0	0	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	0.187255	0.16942	N	0.614555	0.850485	0.58761	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0460926	0.57838	T	0.295075	0.87967	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.461663	0.69446	25.4	0.97885292807522206	0.36635	0.34902	0.25176	N	AEFBI	0.065178	0.12699	N	0.272957060427218	0.54783	3.643044	-0.0385988883743633	0.37987	2.231782	0.970504803882819	0.29212	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.508809	0.08732	0	.	.	6.07	4.3	0.50540	1.371000	0.33855	0.357000	0.17536	-0.717000	0.03845	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.0:0.1196:0.7558:0.1246	13.582	0.61374	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2789.33	34	chr4	183319606	.	G	A	2789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=859;ExcessHet=0;FS=3.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.117;SOR=0.954	GT:AD:DP:GQ:PL	0/1:132,109:241:99:2803,0,3363	18	0	1	0
chr4	183446169	183446169	C	G	exonic	CDKN2AIP	.	nonsynonymous SNV	CDKN2AIP:NM_017632:exon3:c.C485G:p.S162C	.	8	1510	4	0	0	4	0.00132275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00942864954032	7.7e-05	0.000599042	0.0003	0	0	0	0	4.501e-05	0	0.0024	0.0002911	45	154602	rs143545447	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0021	0.0020	0	0	0	0	0	0.0005	2.968e-05	0.0002	0.0023	0.0001	0.0001	5.138e-05	0.0002	0.0017	7.085e-05	5.742e-05	0.0008	0.0006	2.405e-05	0	0	0	0	0	0	0.0001	0.0005	0.0017	0.009	0.57480	D	0.009	0.66756	D	0.938	0.52538	P	0.554	0.49340	P	0.000248	0.46924	D	0.091826	0.841841	0.81001	D	0.895	0.22405	L	.	.	.	-0.16	0.09460	N	0.237	0.26717	-0.7433	0.58283	T	0.181	0.52874	T	9	0.00950107	0.00214	T	0.009429	0.24716	T	0.084	0.24469	.	.	0.102598925029	0.09809	0.1417565637501259	0.14098	0.0581086674643	0.06437	0.315012633801	0.12665	T	0.014694	0.12461	T	-0.400597	0.02295	T	-0.354064	0.38740	T	0.0692742125933921	0.08549	T	0.562644	0.19782	T	0.17269465	0.37974	0.10667628	0.25668	0.17269465	0.37974	0.10667628	0.25668	-6.19	0.47842	T	.	.	0.090	0.12655	B	.	.	3.117372	0.42069	21.5	0.84827800891114891	0.15522	0.89623	0.50206	D	AEFBC	0.208181	0.33428	N	0.160404869529123	0.49306	3.132454	0.170054647924824	0.48216	3.040419	0.999999999858595	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.33	5.33	0.75683	0.891000	0.27944	3.894000	0.40311	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.791000	0.37352	0.0:1.0:0.0:0.0	18.816	0.92042	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1965.33	39	chr4	183446169	.	C	G	1965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.489;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr4	183666271	183666271	G	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon3:c.G219C:p.E73D,TRAPPC11:NM_199053:exon3:c.G219C:p.E73D	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	429	1073	20	0	0	20	0.00923361	.	.	.	251413	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified|not_provided	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.438	.	0.0006	0.00519169	0.0043	0.0004	0.0004	0	0	0.0011	0.0078	0.0268	0.0037192	575	154602	rs138760818	0.0021	0.0021	0.0014	0.0028	0.0237	0.0020	0.0020	0.0228	0.0225	0.0002	0.0004	0.0094	7.562e-05	0	0.0059	0.0005	0.0027	0.0237	0.0012	0.0012	0.0009	0.0016	0.0213	0.0011	0.0010	0.0180	0.0167	9.623e-05	0	0.0005	0.0084	0.0002	0	0.0034	0.0006	0.0009	0.0213	0.332	0.13045	T	0.313	0.19782	T	0.816	0.48618	P	0.268	0.43233	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.72	0.18721	N	.	.	.	-1.65	0.39503	N	0.83	0.82559	-0.8796	0.49793	T	0.093	0.35309	T	9	0.008832902	0.00200	T	.	.	.	0.438	0.74235	0.507	0.60232	0.297718772494	0.29385	0.6762822272158442	0.67567	0.242449313092	0.26752	0.895344734192	0.95908	D	0.056148	0.30204	T	-0.266217	0.12181	T	-0.136255	0.60441	T	0.0358278396197127	0.02951	T	0.936706	0.76258	D	0.13100906	0.30552	0.16336662	0.37900	0.15270379	0.34650	0.21760593	0.46431	-4.695	0.33367	T	0.271994395201674	0.36576	0.534	0.66116	A	.;.	.;.	0.259165	0.06380	2.843	0.97681234374604287	0.35317	0.66952	0.33258	D	AEFBI	0.191362	0.31856	N	-0.860169371462993	0.11800	0.5714975	-0.946028042817449	0.11016	0.5585789	0.999723583915953	0.42220	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	-8.23	0.00907	-0.179000	0.09761	-1.286000	0.05813	-0.281000	0.06419	0.457000	0.26620	0.000000	0.08366	0.992000	0.67800	0.2921:0.0:0.7079:0.0	20.646	0.99595	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.018939	0.02632	736.33	35	chr4	183666271	.	G	C	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=684;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.01;SOR=0.565	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1235	18	0	1	0
chr4	183674771	183674771	G	A	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon6:c.G619A:p.V207M,TRAPPC11:NM_199053:exon6:c.G619A:p.V207M	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	449	1071	2	0	0	2	0.000932836	.	.	.	563623	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.642	0.0085678916885	.	0.000199681	8.285e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs201181808	1.456e-05	1.573e-05	1.793e-05	1.115e-05	1.809e-05	9.36e-06	7.94e-06	1.182e-05	9.6e-06	0	0	0	0	0	0	1.809e-05	0	1.217e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.998	0.77913	D	0.858	0.70027	P	0.000010	0.62929	D	0.109669	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.81	0.81162	-0.1042	0.80002	T	0.515	0.81835	D	9	0.7756665	0.77438	D	0.008568	0.22655	T	0.642	0.86384	.	.	0.565975473979	0.56261	0.6224218247981242	0.62175	0.458982957277	0.45497	0.868730247021	0.92386	D	0.244772	0.61396	T	0.314946	0.84109	D	0.32468	0.89288	D	0.869926571846008	0.51985	D	0.968003	0.88371	D	0.32241523	0.54843	0.4253463	0.66346	0.32241523	0.54843	0.4253463	0.66346	-10.134	0.74710	D	0.8403159146604614	0.90899	0.823	0.78398	P	.;.	.;.	4.803346	0.78067	26.8	0.99893749757741279	0.96742	0.97910	0.78054	D	AEFGBI	0.869602	0.79021	D	0.856438079296105	0.89471	9.985738	0.853800972483739	0.93237	11.91123	0.99999999999831	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	7.972000	0.87634	11.687000	0.94301	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.359	0.98850	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1832.81	33	chr4	183674771	.	G	A	1832.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=1.392	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1193	18	1	0	0
chr4	184009557	184009557	G	A	exonic	STOX2	.	nonsynonymous SNV	STOX2:NM_020225:exon3:c.G719A:p.S240N	.	430	1051	40	1	0	42	0.0195896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0012	0.00419329	0.0043	0.0002	0.0010	0.0001	0	0.0021	0.0034	0.0220	0.0037257	576	154602	rs200837182	0.0024	0.0024	0.0017	0.0031	0.0214	0.0023	0.0023	0.0206	0.0203	0.0002	0.0004	0.0147	2.519e-05	1.873e-05	0.0085	0.0009	0.0030	0.0214	0.0016	0.0016	0.0014	0.0019	0.0228	0.0015	0.0014	0.0193	0.0180	0.0001	0	0.0006	0.0121	0	0	0.0068	0.0011	0.0019	0.0228	0.046	0.40573	D	0.06	0.45744	T	0.987	0.61912	D	0.914	0.64984	D	0.000000	0.84330	D	0.120721	0.999848	0.49770	D	0.77	0.19370	N	-0.26	0.67187	T	-0.26	0.11185	N	0.696	0.70088	0.009	0.82435	D	0.496	0.80922	T	10	0.008596331	0.00195	T	.	.	.	0.261	0.57352	.	.	0.043077524339	0.03247	0.4272749328916834	0.42644	0.249684338131	0.27551	0.714204072952	0.69203	T	0.031042	0.21860	T	-0.385948	0.02856	T	-0.310908	0.43562	T	0.0377309019268772	0.03285	T	0.864214	0.56114	D	0.23295368	0.46092	0.23893042	0.49229	0.23295368	0.46092	0.23893042	0.49228	-6.718	0.51946	T	.	.	0.144	0.31808	B	.	.	3.812763	0.55007	23.6	0.99475083901262606	0.66579	0.99082	0.90959	D	AEFDBI	0.775595	0.70896	D	0.684559070834123	0.78620	6.908547	0.726427081052459	0.84383	8.277275	0.999999136482115	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	6.678000	0.74342	11.604000	0.93497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.698	0.96034	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.002717	0.002924	0.000000	0.008621	0.009146	0.022727	0.05263	5288.83	68	chr4	184009557	.	G	A	5288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.2;DP=1859;ExcessHet=0.119;FS=1.665;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.534;SOR=0.606	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	17	0	2	0
chr4	184678324	184678324	T	G	exonic	PRIMPOL	.	nonsynonymous SNV	PRIMPOL:NM_001345900:exon6:c.T412G:p.F138V,PRIMPOL:NM_001345901:exon6:c.T241G:p.F81V,PRIMPOL:NM_001300767:exon7:c.T550G:p.F184V,PRIMPOL:NM_001345894:exon7:c.T241G:p.F81V,PRIMPOL:NM_001345897:exon7:c.T241G:p.F81V,PRIMPOL:NM_001345898:exon7:c.T241G:p.F81V,PRIMPOL:NM_001300768:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345891:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345892:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345893:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345895:exon8:c.T937G:p.F313V,PRIMPOL:NM_001345896:exon8:c.T937G:p.F313V,PRIMPOL:NM_152683:exon8:c.T937G:p.F313V	Myopia 22, autosomal dominant, Autosomal dominant	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00403633079854	.	.	2.591e-05	0	0	0.0001	0	0	0	0.0001	1.94e-05	3	154602	rs770004543	3.432e-06	3.42e-06	2.731e-06	4.14e-06	5.879e-05	1.01e-06	7.3e-07	2.218e-05	1.447e-05	0	0	0	0	0	0	0	0	5.879e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.05121	T	0.534	0.10536	T	0.003	0.11197	B	0.003	0.08700	B	0.074994	0.21250	N	0.549228	0.997611	0.22584	N	1.445	0.36358	L	1.63	0.28604	T	0.64	0.02368	N	0.107	0.12770	-1.0113	0.26510	T	0.049	0.20829	T	10	0.042134225	0.02934	T	0.004036	0.09587	T	0.042	0.11227	0.278	0.23164	0.143124449307	0.13826	0.24694023450914923	0.24608	0.0353957791626	0.03735	0.298074960709	0.10116	T	2.94E-4	0.00073	T	-0.322156	0.06723	T	-0.517141	0.20585	T	0.13532081246376	0.15865	T	0.737926	0.35508	T	0.13138714	0.30627	0.08894245	0.20769	0.13138714	0.30627	0.08894245	0.20769	-4.554	0.32260	T	0.130524012698752	0.13737	0.067	0.04640	B	.;.;.;.	.;.;.;.	0.027928	0.04477	1.192	0.99195929033294783	0.55112	0.17871	0.20023	N	AEI	0.084885	0.17206	N	-0.640006805920949	0.17751	0.9161174	-0.540949338931113	0.21046	1.136736	0.941044646536027	0.27459	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	4.74	0.59717	0.105000	0.15169	0.396000	0.17945	0.665000	0.62972	0.071000	0.22100	0.039000	0.21534	0.154000	0.20445	0.3634:0.0:0.1367:0.4999	6.307	0.20351	909	0.22467	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	976.33	77	chr4	184678324	.	T	G	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.76;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr4	184757844	184757844	G	A	exonic	ACSL1	.	nonsynonymous SNV	ACSL1:NM_001286711:exon18:c.C1757T:p.S586L,ACSL1:NM_001381890:exon18:c.C1667T:p.S556L,ACSL1:NM_001286708:exon19:c.C1859T:p.S620L,ACSL1:NM_001286710:exon19:c.C1859T:p.S620L,ACSL1:NM_001381880:exon19:c.C1859T:p.S620L,ACSL1:NM_001381881:exon19:c.C1859T:p.S620L,ACSL1:NM_001381882:exon19:c.C1859T:p.S620L,ACSL1:NM_001381883:exon19:c.C1859T:p.S620L,ACSL1:NM_001381884:exon19:c.C1859T:p.S620L,ACSL1:NM_001381886:exon19:c.C1859T:p.S620L,ACSL1:NM_001381887:exon19:c.C1859T:p.S620L,ACSL1:NM_001995:exon19:c.C1859T:p.S620L,ACSL1:NM_001381877:exon20:c.C1859T:p.S620L,ACSL1:NM_001381878:exon20:c.C1859T:p.S620L,ACSL1:NM_001381879:exon20:c.C1859T:p.S620L,ACSL1:NM_001381885:exon20:c.C1859T:p.S620L,ACSL1:NM_001381888:exon20:c.C1712T:p.S571L,ACSL1:NM_001381889:exon20:c.C1712T:p.S571L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0309122950774	.	.	9.884e-05	0	8.637e-05	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs201057608	6.362e-05	6.362e-05	5.717e-05	7.013e-05	0.0002	5.294e-05	4.911e-05	0.0002	0.0001	0	0.0002	0.0003	0	0.0001	0	4.406e-05	4.967e-05	0.0002	6.572e-05	6.567e-05	6.424e-05	6.727e-05	0.0003	3.517e-05	2.617e-05	8.881e-05	5.389e-05	0	0	0.0003	0.0003	0	0	0	7.348e-05	0	0	0.001	0.78490	D	0.02	0.61642	D	0.897	0.55278	P	0.208	0.37221	B	0.018219	0.27535	N	0.447787	0.988682	0.40809	D	3.22	0.89398	M	2.25	0.17761	T	-3.78	0.74504	D	0.335	0.42149	-1.0566	0.12621	T	0.077	0.30859	T	10	0.43101084	0.57490	T	0.030912	0.53115	D	0.246	0.55340	.	.	0.669310837121	0.66651	0.5875808184142307	0.58688	0.285617431105	0.30974	0.351811498404	0.18188	T	0.369633	0.91399	T	-0.23434	0.16079	T	-0.30509	0.44185	T	0.39887916330165	0.28900	T	0.89971	0.64861	D	0.2932597	0.52294	0.420675	0.66023	0.2932597	0.52294	0.420675	0.66023	-10.811	0.78672	D	.	.	0.135	0.29283	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.422882	0.68520	25.2	0.99730503470414233	0.82761	0.99767	0.99318	D	AEFBIJ	0.933333	0.92508	D	0.423556767754869	0.62721	4.492626	0.378954196440307	0.60267	4.212595	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	9.902000	0.98627	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.401000	0.26804	0.0:0.0:1.0:0.0	19.827	0.96619	963	0.08280	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2017.33	41	chr4	184757844	.	G	A	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=825;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.651;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr4	185190470	185190470	G	A	exonic	CFAP97	.	nonsynonymous SNV	CFAP97:NM_001292033:exon2:c.C727T:p.H243Y,CFAP97:NM_020827:exon2:c.C727T:p.H243Y	.	.	.	.	.	.	.	.	.	.	.	2390130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0136111477757	.	0.000199681	1.675e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs538154729	6.157e-06	6.84e-06	5.445e-06	6.877e-06	5.039e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	0.0001	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	0	0	0	0.018	0.50676	D	0.049	0.48336	D	0.75	0.46404	P	0.091	0.39112	B	0.486550	0.12105	N	0.776443	1	0.08975	N	.	.	.	1.53	0.43672	T	-0.99	0.31170	N	0.156	0.17553	-1.0725	0.08873	T	0.072	0.29259	T	10	0.04637608	0.03821	T	0.013611	0.33144	T	0.092	0.26621	0.081	0.00694	0.520161069619	0.51660	0.02486462178005328	0.02437	0.0195475417118	0.01915	0.255978107452	0.04423	T	0.026587	0.19643	T	-0.481942	0.00720	T	-0.665625	0.07892	T	0.0641346224631193	0.07802	T	0.675932	0.28448	T	0.04083222	0.05902	0.049028132	0.07407	0.04083222	0.05902	0.049028132	0.07407	-3.35	0.15642	T	.	.	0.072	0.10883	B	.;.;.	.;.;.	0.777842	0.11479	8.082	0.92902862478251869	0.22458	0.15270	0.18829	N	AEFDGBHCI	0.072971	0.14580	N	-0.635394251955741	0.17888	0.924344	-0.699859424152603	0.16964	0.8998755	0.999999925221891	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	3.58	0.40133	0.987000	0.29203	0.825000	0.21891	-0.179000	0.10443	0.134000	0.23411	0.002000	0.18203	0.156000	0.20513	0.0:0.6064:0.2972:0.0965	8.140	0.30241	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2256.33	35	chr4	185190470	.	G	A	2256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.84;DP=892;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.749;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1103:.	18	0	1	0
chr4	185191046	185191046	C	T	exonic	CFAP97	.	nonsynonymous SNV	CFAP97:NM_001292033:exon2:c.G151A:p.V51I,CFAP97:NM_020827:exon2:c.G151A:p.V51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00451169287895	.	.	8.434e-06	0	0	0	0	0	0	6.134e-05	6.5e-06	1	154602	rs769200893	1.369e-06	1.368e-06	0	2.752e-06	2.323e-05	2.3e-07	9e-08	3.86e-06	1.44e-06	0	0	0	0	0	0	0	0	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.319	0.19188	T	0.001	0.09854	B	0.001	0.12992	B	0.759394	0.09636	N	0.871978	1	0.08975	N	.	.	.	0.74	0.50459	T	-0.1	0.08495	N	0.041	0.02861	-1.0080	0.27541	T	0.082	0.32178	T	10	0.04298204	0.03101	T	0.004512	0.11094	T	0.101	0.28911	0.163	0.06730	0.471372864162	0.46764	0.022142143350795097	0.02166	0.0160666637987	0.01538	0.239224821329	0.02722	T	0.008557	0.07851	T	-0.494312	0.00615	T	-0.847191	0.00996	T	0.033868200290736	0.02616	T	0.582242	0.21771	T	0.0342509	0.03807	0.026847133	0.00798	0.0342509	0.03806	0.026847133	0.00798	-3.378	0.14762	T	.	.	0.069	0.05447	B	.;.;.;.	.;.;.;.	-0.155275	0.03328	0.582	0.69776636453338348	0.09081	0.13322	0.17791	N	AEFDGBHCI	0.033504	0.03990	N	-0.904373526199237	0.10739	0.5146736	-0.922351344145349	0.11567	0.5900702	0.999909200230184	0.45458	0.75658	0.98901	0	0.858454	0.99946	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.08	0.687	0.17184	-0.797000	0.04675	-0.362000	0.09668	0.599000	0.40250	0.000000	0.06391	0.004000	0.18990	0.297000	0.24428	0.2337:0.2833:0.1083:0.3747	0.850	0.01095	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	68	chr4	185191046	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=1287;ExcessHet=0;FS=8.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.554;SOR=1.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,0:100:99:.:.:0,120,1800:.	18	0	1	0
chr4	185247310	185247310	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon2:c.A446G:p.N149S,SNX25:NM_001378034:exon2:c.A446G:p.N149S,SNX25:NM_001378035:exon2:c.A446G:p.N149S,SNX25:NM_001378036:exon2:c.A446G:p.N149S,SNX25:NM_001378037:exon2:c.A446G:p.N149S,SNX25:NM_001378038:exon2:c.A446G:p.N149S,SNX25:NM_001378039:exon2:c.A446G:p.N149S,SNX25:NM_001378040:exon2:c.A446G:p.N149S	.	666	824	26	6	0	38	0.0225386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00978435	0.0098	0.0020	0.0026	0	0.0023	0.0077	0.0132	0.0360	0.0093466	1445	154602	rs74883877	0.0096	0.0098	0.0088	0.0105	0.0351	0.0095	0.0095	0.0340	0.0336	0.0013	0.0037	0.0039	0.0001	0.0025	0.0140	0.0090	0.0092	0.0351	0.0062	0.0062	0.0061	0.0064	0.0333	0.0059	0.0057	0.0290	0.0274	0.0014	0	0.0065	0.0026	0.0002	0.0031	0.0136	0.0082	0.0095	0.0333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2711.79	35	chr4	185247310	.	A	G	2711.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.159;DP=823;ExcessHet=0.3672;FS=0.497;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.006;SOR=0.756	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	3	0
chr4	185346597	185346597	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001317781:exon13:c.A1756G:p.I586V,SNX25:NM_001378034:exon13:c.A2248G:p.I750V,SNX25:NM_001378035:exon13:c.A2248G:p.I750V,SNX25:NM_001378036:exon13:c.A2248G:p.I750V,SNX25:NM_001378037:exon13:c.A2248G:p.I750V,SNX25:NM_001378032:exon14:c.A2347G:p.I783V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00119808	0.0010	0	0	0.0127	0	1.501e-05	0	0.0004	0.0008021	124	154602	rs3756275	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0093	0.0090	0	0	0	0.0101	1.876e-05	0	1.175e-05	0.0002	0.0004	0.0004	0.0004	0.0004	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	6.537e-05	0	0.0100	9.418e-05	0	1.47e-05	0	0.0004	0.702	0.04148	T	0.42	0.19908	T	0.001	0.07471	B	0.014	0.16862	B	0.020551	0.27016	N	0.429763	0.937129	0.26899	N	0.77	0.19370	N	1.11	0.38883	T	-0.11	0.08653	N	0.09	0.06854	-1.0457	0.15621	T	0.042	0.17952	T	10	0.006334424	0.00143	T	.	.	.	0.063	0.18251	.	.	0.17258766438	0.16869	0.13737349135907523	0.13661	0.14544047076	0.16437	0.344366461039	0.17088	T	0.005339	0.04790	T	-0.649457	0.00073	T	-0.695288	0.06087	T	0.00391087823129396	0.00041	T	0.829517	0.49484	T	0.0316539	0.03045	0.042542018	0.05090	0.0316539	0.03045	0.042542018	0.05089	-3.982	0.24654	T	.	.	0.055	0.00361	B	.;.;.	.;.;.	0.001921	0.04295	1.079	0.48618540235496155	0.04072	0.12014	0.17006	N	AEFBI	0.068552	0.13528	N	-1.12345285230424	0.06228	0.2861271	-1.07918459535527	0.08111	0.3973716	0.999983264029797	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.28	-5.36	0.02480	-0.241000	0.08958	-0.374000	0.09587	-0.065000	0.16512	0.007000	0.17678	0.000000	0.08366	0.994000	0.71098	0.3932:0.0:0.6068:0.0	16.115	0.81112	940	0.13648	.;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	563.33	34	chr4	185346597	.	A	G	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.868;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,981	18	0	1	0
chr4	185397260	185397260	T	G	exonic	ANKRD37	.	nonsynonymous SNV	ANKRD37:NM_181726:exon2:c.T138G:p.F46L	.	429	1066	27	0	0	27	0.0125058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0035	0.00459265	0.0041	0.0045	0.0016	0.0002	0.0026	0.0043	0.0045	0.0072	0.0037257	576	154602	rs116240990	0.0033	0.0033	0.0031	0.0035	0.0106	0.0032	0.0032	0.0085	0.0077	0.0051	0.0015	0.0098	0.0002	0.0031	0.0106	0.0028	0.0042	0.0075	0.0038	0.0039	0.0037	0.0040	0.0068	0.0036	0.0035	0.0050	0.0044	0.0044	0.0154	0.0019	0.0107	0.0004	0.0032	0.0238	0.0036	0.0019	0.0068	1.0	0.00964	T	0.195	0.28032	T	0.003	0.11197	B	0.007	0.12992	B	0.003193	0.35300	N	0.235291	.	.	.	-0.715	0.01801	N	-0.01	0.62762	T	-1.06	0.27669	N	0.253	0.28616	-1.0887	0.05752	T	0.047	0.20156	T	9	0.00392583	0.00075	T	.	.	.	0.064	0.18567	0.605	0.73706	0.212008924253	0.20833	0.3201222245409584	0.31925	0.151054330017	0.17050	0.434957683086	0.29888	T	0.003319	0.02728	T	-0.530834	0.00380	T	-0.530718	0.19215	T	0.00248984454150134	0.00026	T	0.547645	0.18800	T	0.052632872	0.09844	0.059691746	0.11245	0.052632872	0.09844	0.059691746	0.11244	-5.538	0.42222	T	.	.	0.459	0.62665	A	.	.	0.454883	0.08249	4.990	0.96381045368418128	0.29617	0.20558	0.21085	N	ALL	0.087993	0.17840	N	-1.31659422837559	0.03484	0.1557496	-1.27705834718057	0.04742	0.2243979	0.999999999998537	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	-4.25	0.03508	-1.155000	0.03273	-1.974000	0.04407	-0.819000	0.02980	0.121000	0.23193	0.000000	0.08366	0.623000	0.31974	0.0:0.2871:0.3629:0.35	6.235	0.19967	930	0.16408	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005051	0.008152	0.017544	0.000000	0.000000	0.000000	0.003788	0.02632	1052.33	37	chr4	185397260	.	T	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=729;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=2.43;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr4	185415786	185415786	C	T	exonic	UFSP2	.	nonsynonymous SNV	UFSP2:NM_018359:exon5:c.G415A:p.G139R	.	.	.	.	.	.	.	.	.	.	.	3491276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0112985912673	7.7e-05	.	1.649e-05	9.63e-05	8.652e-05	0	0	0	0	0	1.94e-05	3	154602	rs368418190	1.026e-05	1.026e-05	1.362e-05	6.877e-06	4.473e-05	6.16e-06	4.89e-06	7.41e-06	5.03e-06	0	4.473e-05	0	0	0	0	1.169e-05	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.528	0.07071	T	0.534	0.09965	T	0.003	0.11197	B	0.001	0.04355	B	0.120840	0.19019	N	0.564644	1	0.08975	N	0.69	0.16971	N	1.6	0.28604	T	1.05	0.01314	N	0.252	0.28498	-1.0160	0.25013	T	0.103	0.37869	T	10	0.042892963	0.03083	T	0.011299	0.28784	T	0.065	0.18881	0.32	0.29902	0.251639045875	0.24756	0.2662064763357304	0.26533	0.0856962128083	0.09686	0.338303357363	0.16183	T	0.003426	0.02829	T	-0.317353	0.07117	T	-0.512104	0.21099	T	0.0650418102741241	0.07937	T	0.782522	0.41827	T	0.022897625	0.00986	0.03717971	0.03315	0.022897625	0.00986	0.03717971	0.03315	-3.739	0.19895	T	.	.	0.097	0.15743	B	.	.	2.123456	0.27030	17.32	0.82843262029878006	0.14404	0.05337	0.11192	N	AEFBI	0.055984	0.10313	N	-0.0756945678816477	0.38461	2.252959	-0.0780193410086855	0.36301	2.110804	0.989599887989064	0.31876	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	4.38	0.52019	2.016000	0.40591	2.720000	0.34304	0.599000	0.40250	0.029000	0.20367	0.903000	0.28003	0.806000	0.37994	0.0:0.6983:0.0:0.3017	6.951	0.23726	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	33	chr4	185415786	.	C	T	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=725;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.2;SOR=0.803	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	18	0	1	0
chr4	185459161	185459161	A	C	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.T1315G:p.Y439D,CCDC110:NM_152775:exon6:c.T1426G:p.Y476D	.	500	1020	1	1	0	3	0.00146843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0022	0.00379393	0.0022	0.0004	0.0009	0	0.0005	0.0014	0.0022	0.0089	0.0021539	333	154602	rs34396844	0.0023	0.0024	0.0022	0.0025	0.0092	0.0023	0.0023	0.0086	0.0084	0.0002	0.0007	3.915e-05	0	0.0004	0.0025	0.0022	0.0026	0.0092	0.0017	0.0017	0.0017	0.0016	0.0099	0.0015	0.0015	0.0077	0.0069	0.0004	0.0340	0.0009	0	0	0.0003	0	0.0021	0.0014	0.0099	0.005	0.63226	D	0.19	0.31527	T	0.985	0.61118	D	0.859	0.61184	P	0.011273	0.29595	N	0.239717	0.989713	0.24262	N	2.33	0.66821	M	2.22	0.18875	T	-2.81	0.59389	D	0.652	0.66272	-1.0925	0.05128	T	0.060	0.25273	T	10	0.0075873733	0.00172	T	.	.	.	0.092	0.26621	.	.	0.305730143919	0.30178	0.18753886358063476	0.18671	0.497085312296	0.48199	0.536832928658	0.43999	T	0.054404	0.33226	T	-0.409203	0.02012	T	-0.353177	0.38842	T	0.0354245026902922	0.02880	T	0.726327	0.34071	T	0.20460619	0.42576	0.22461562	0.47380	0.20460619	0.42576	0.22461562	0.47378	-5.132	0.38242	T	.	.	0.277	0.54933	B	.;.;.	.;.;.	2.994961	0.39995	21.1	0.99084004268939263	0.52051	0.86472	0.45759	D	AEFDGI	0.188985	0.31625	N	0.246520957806076	0.53466	3.515413	0.189351568928819	0.49261	3.131562	0.999676281447928	0.41644	0.554377	0.28877	0	0.626922	0.53725	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.63	3.23	0.36150	1.807000	0.38540	4.106000	0.41892	0.756000	0.94297	0.884000	0.31069	0.997000	0.33255	0.999000	0.91618	0.8359:0.0:0.1641:0.0	8.027	0.29601	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1744.33	70	chr4	185459161	.	A	C	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=2037;ExcessHet=0;FS=3.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.556;SOR=0.997	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr4	185684817	185684817	C	T	exonic	SORBS2	.	nonsynonymous SNV	SORBS2:NM_001270771:exon5:c.G40A:p.A14T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.047528964644	.	0.000399361	0.0012	0	0	0	0	0	0	0.0034	0.0001876	29	154602	rs540568350	0.0002	0.0002	9.869e-05	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	8.402e-05	0	0	4.049e-05	0.0002	9.268e-06	8.607e-05	0.0033	0.0001	0.0001	8.997e-05	0.0001	0.0023	6.509e-05	5.321e-05	0.0013	0.0010	0	0	0	0	0	0.0002	0	4.41e-05	0	0.0023	0.002	0.72154	D	0.21	0.26714	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.3	0.35590	T	-0.61	0.74051	N	0.452	0.48963	-0.5722	0.65927	T	0.250	0.61946	T	8	0.014185846	0.00299	T	0.047529	0.62961	D	0.150	0.39571	0.246	0.18139	0.489036454283	0.48535	0.27168740313626494	0.27081	0.38454367566	0.39751	0.614200234413	0.54909	T	0.032968	0.35092	T	-0.231728	0.16421	T	-0.108688	0.62715	T	0.171206604171542	0.18661	T	0.889911	0.62289	D	.	.	.	.	.	.	.	.	-4.236	0.27270	T	.	.	0.142	0.65042	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.197330	0.63305	24.6	0.99927250224746411	0.99163	0.91295	0.53246	D	AEFBI	0.703635	0.65961	D	0.647955433650242	0.76237	6.449411	0.640360477469236	0.77893	6.768209	0.999999941729943	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	3.394000	0.52294	3.998000	0.41048	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	19.127	0.93375	700	0.57880	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	956.33	33	chr4	185684817	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.107;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1458	18	0	1	0
chr4	186083654	186083654	G	A	exonic	TLR3	.	stopgain	TLR3:NM_003265:exon4:c.G1968A:p.W656X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.588e-06	0	8.663e-05	0	0	0	0	0	6.5e-06	1	154602	rs770094473	6.923e-07	6.84e-07	0	1.396e-06	2.34e-05	0	0	.	.	0	2.34e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.969	0.98065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554705	0.95996	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.331577	0.98785	40	0.99653575405758044	0.77442	0.99409	0.95660	D	AEFDBI	.	.	.	0.981153852402103	0.95136	13.34062	0.862235954535892	0.93711	12.22641	0.999999999985029	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.03	6.03	0.97798	10.003000	0.99689	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.575	0.99368	648	0.63242	Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3594.33	71	chr4	186083654	.	G	A	3594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=1492;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.7;SOR=0.582	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	18	0	1	0
chr4	186251511	186251511	C	T	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon9:c.C893T:p.P298L,KLKB1:NM_001318396:exon9:c.C287T:p.P96L,KLKB1:NM_001318394:exon10:c.C779T:p.P260L	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0142781275552	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs200398188	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.961e-05	2.236e-05	0	2.52e-05	0	0.0002	0.0001	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	0.0003	0	0.0012	0.652	0.04817	T	0.659	0.06666	T	.	.	.	.	.	.	0.792570	0.06720	N	1.101020	1	0.08975	N	.	.	.	-2.62	0.90017	D	-0.77	0.21429	N	0.132	0.16028	-1.0470	0.15246	T	0.090	0.34518	T	10	0.022260189	0.00551	T	0.014278	0.34290	T	0.349	0.67049	.	.	0.921398576477	0.92060	0.34457750232158985	0.34371	0.149640351898	0.16875	0.275754034519	0.06907	T	0.29504	0.66771	T	-0.296253	0.09019	T	-0.217338	0.52992	T	0.046557455788993	0.04884	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07650	B	.;.	.;.	2.382172	0.30579	18.48	0.76877985700194129	0.11646	0.10446	0.15951	N	AEFDGBCI	0.424875	0.48987	N	-0.110927856628323	0.36915	2.140436	-0.107549836829482	0.35085	2.025662	0.999996931514133	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658105	0.52812	0	0.564101	0.26826	0	.	.	5.45	4.56	0.55644	0.200000	0.17055	2.199000	0.31271	0.597000	0.34315	0.000000	0.06391	0.009000	0.19889	0.875000	0.41745	0.1553:0.6973:0.0:0.1474	6.905	0.23483	625	0.65529	.;PAN/Apple domain|Apple domain|PAN/Apple domain|Apple domain|Apple domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1543.33	33	chr4	186251511	.	C	T	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=826;ExcessHet=0;FS=3.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.804;SOR=1.099	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr4	186706701	186706701	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.G3127A:p.V1043M	.	431	1089	2	0	0	2	0.000917431	.	.	.	2358141	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0417469897079	8.1e-05	.	5.796e-05	0.0001	0	0	0	5.993e-05	0	0.0001	5.82e-05	9	154602	rs372605617	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.472e-05	0	0	0	0	0.0001	9.938e-05	0.0003	9.857e-05	9.85e-05	0.0001	5.381e-05	0.0002	6.007e-05	4.88e-05	0.0001	8.877e-05	2.413e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.988	0.62325	D	0.954	0.69447	D	0.000011	0.62929	D	0.064020	0.998384	0.44847	D	2.835	0.82492	M	0.34	0.58176	T	-2.57	0.55501	D	0.33	0.37093	-0.3062	0.74812	T	0.346	0.71107	T	10	0.4537744	0.58861	T	0.041747	0.60094	D	0.352	0.67326	.	.	0.710418626502	0.70789	0.43290972346027645	0.43207	0.481574300456	0.47135	0.444152235985	0.31144	T	0.380405	0.74295	T	-0.270698	0.11680	T	-0.326291	0.41880	T	0.608733475208282	0.36750	D	0.989634	0.96601	D	0.51382184	0.67902	0.4906596	0.70534	0.51382184	0.67903	0.4906596	0.70534	-9.336	0.69833	D	.	.	0.201	0.42549	B	.;.	.;.	3.836451	0.55490	23.6	0.99866729026233636	0.94457	0.66774	0.33195	D	AEFBCI	0.165583	0.29209	N	0.344455686334606	0.58446	4.017041	0.17805900700487	0.48647	3.077827	0.999984656668329	0.51787	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.99	4.15	0.47978	1.692000	0.37350	7.665000	0.64460	0.599000	0.40250	0.896000	0.31333	1.000000	0.68203	0.004000	0.06068	0.0:0.7686:0.0:0.2314	8.969	0.35053	948	0.11499	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1538.33	184	chr4	186706701	.	C	T	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=2789;ExcessHet=0;FS=2.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.321;SOR=0.565	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	18	0	1	0
chr4	186709073	186709073	T	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A755C:p.E252A	.	430	1091	1	0	0	1	0.000458085	.	.	.	1528791	Inborn_genetic_diseases|not_provided|FAT1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.0174920680831	.	0.000399361	0.0001	0	0	0.0019	0	0	0	0.0001	0.0001294	20	154602	rs148204168	8.005e-05	8.003e-05	6.126e-05	9.903e-05	0.0016	6.802e-05	6.356e-05	0.0013	0.0012	0	0	0	0.0016	0	0	9.894e-06	0.0003	0.0003	0.0001	0.0001	0.0001	9.4e-05	0.0025	6.508e-05	5.32e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	2.941e-05	0	0.0002	0.072	0.39334	T	0.04	0.50809	D	0.002	0.09854	B	0.005	0.11217	B	0.000838	0.41547	N	0.266298	0.999991	0.58761	D	1.485	0.37223	L	0.11	0.61208	T	-2.38	0.72594	N	0.153	0.16586	-0.9992	0.30143	T	0.142	0.46239	T	10	0.01473397	0.00310	T	0.017492	0.39209	T	0.110	0.31079	.	.	0.349647731962	0.34572	0.6317045486250131	0.63104	0.10228197106	0.11575	0.311010360718	0.12060	T	0.186554	0.53989	T	-0.456794	0.01029	T	-0.432294	0.29675	T	0.0412151562592894	0.03911	T	0.872413	0.57909	D	0.058967203	0.11927	0.055645693	0.09800	0.058967203	0.11927	0.055645693	0.09800	-4.694	0.33331	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.800700	0.11711	8.292	0.96479864085394595	0.29967	0.78530	0.38757	D	AEFDGBCI	0.351881	0.44484	N	-0.702118202816283	0.15961	0.8091032	-0.748516579472063	0.15758	0.8303866	0.999830236069582	0.43792	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.04	-0.244	0.12388	1.866000	0.39127	-0.087000	0.12105	0.609000	0.47794	0.758000	0.29220	0.000000	0.08366	0.031000	0.13245	0.0:0.2091:0.1294:0.6616	5.846	0.17917	946	0.12043	Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2811.33	40	chr4	186709073	.	T	G	2811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=2142;ExcessHet=0;FS=3.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.146;SOR=0.815	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr4	188091662	188091662	G	A	exonic	TRIML2	.	nonsynonymous SNV	TRIML2:NM_001303419:exon8:c.C1100T:p.T367M,TRIML2:NM_173553:exon8:c.C1025T:p.T342M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0025	0.00379393	0.0007	0.0067	0.0003	0	0	7.499e-05	0	0.0004	0.0007633	118	154602	rs76096328	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0084	0.0080	0.0092	0.0004	0.0002	2.521e-05	0	0.0009	6.028e-05	0.0005	0.0004	0.0022	0.0022	0.0025	0.0019	0.0075	0.0020	0.0019	0.0068	0.0066	0.0075	0	0.0009	0.0003	0	0	0	0.0001	0.0009	0.0006	.	.	.	0.391	0.17014	T	.	.	.	.	.	.	0.611661	0.05704	N	1.227660	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.13341	-1.0441	0.16089	T	0.073	0.29643	T	10	0.0049636364	0.00106	T	.	.	.	0.141	0.37795	.	.	0.137902524267	0.13322	0.290359590078168	0.28948	0.103735805567	0.11741	0.213485136628	0.00968	T	0.008839	0.08085	T	-0.507772	0.00517	T	-0.496465	0.22715	T	0.00832147783685613	0.00100	T	0.707329	0.31793	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.32733	B	.;.	.;.	-0.334486	0.02470	0.286	0.52055591613253305	0.04676	0.00399	0.01994	N	AEFBI	0.036681	0.04928	N	-1.19510340240419	0.05074	0.2304517	-1.25209434186183	0.05100	0.2422155	0.594804248898594	0.21676	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.85	-3.25	0.04765	-0.622000	0.05649	-0.123000	0.11700	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6738:0.0:0.3262:0.0	12.438	0.54947	983	0.02875	.;SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	4250.33	39	chr4	188091662	.	G	A	4250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.937;DP=998;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.443;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	18	0	1	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.010870	0.005848	0.000000	0.008621	0.018293	0.007576	0.05263	2002.83	34	chr4	188139649	.	T	A	2002.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=783;ExcessHet=0.119;FS=13.549;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.34;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	17	0	2	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,566:.	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:57:.:.:0,57,855:.	14	0	5	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/0:111,0:111:54:0,54,2795	11	0	7	1
chr4	190065287	190065287	C	T	exonic	DUX4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.233e-05	6.043e-05	5.058e-06	5.524e-05	0.0002	1.875e-05	1.566e-05	0.0001	7.629e-05	0	0	0	0	0	0	8.024e-06	8.218e-05	0.0002	9.739e-06	7.831e-05	0	2.009e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	73.63	.	chr4	190065287	.	C	T	73.63	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.834;DP=26;ExcessHet=0;FS=3.31;InbreedingCoeff=-0.1592;MLEAC=2;MLEAF=0.083;MQ=40.21;MQRankSum=-1.834;QD=12.27;ReadPosRankSum=1.83;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:47:81,0,47	11	0	1	7
chr5	139502	139502	T	C	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon3:c.T263C:p.V88A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222002	0.38941	T	.	.	.	.	.	.	.	.	.	0.22354196624978348	0.22269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775622	0.40735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56838	A	.	.	2.509845	0.32413	19.03	0.7804946733693835	0.12134	0.86937	0.46332	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999992211393794	0.74766	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.062806	0.01542	0	0.653908	0.41844	2.55	2.55	0.29757	3.427000	0.52552	0.731000	0.21087	0.502000	0.22824	0.452000	0.26581	0.072000	0.22236	0.010000	0.09038	0.0:0.0:0.0:1.0	8.558	0.32657	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	34.17	4	chr5	139502	.	T	C	34.17	.	AC=2;AF=0.071;AN=28;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2892;MLEAC=2;MLEAF=0.071;MQ=60;QD=17.09;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	1	0	5
chr5	140476	140476	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon3:c.A1237G:p.S413G	.	383	1136	3	0	0	3	0.00131868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0033	0.00299521	0.0051	0.0116	0.0106	0	0	0.0061	0.0033	0.0006	0.0019922	308	154602	rs143062800	0.0016	0.0016	0.0016	0.0016	0.0060	0.0015	0.0015	0.0053	0.0051	0.0060	0.0039	0.0288	0	9.847e-05	0.0057	0.0008	0.0039	0.0002	0.0030	0.0031	0.0031	0.0030	0.0056	0.0028	0.0027	0.0050	0.0047	0.0056	0	0.0029	0.0351	0	0	0.0068	0.0008	0.0047	0.0002	0.068	0.35726	T	0.419	0.14158	T	0.544	0.37968	P	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.66	0.27486	T	-0.96	0.25551	N	0.086	0.06322	-1.0482	0.14903	T	0.025	0.10464	T	9	0.0038065016	0.00071	T	.	.	.	0.013	0.01715	.	.	0.112648838833	0.10856	0.2176402654912226	0.21680	0.100555651446	0.11360	0.475374102592	0.35421	T	0.004426	0.03828	T	-0.600691	0.00144	T	-0.632459	0.10229	T	0.00890657518157518	0.00111	T	0.424758	0.11367	T	0.11878953	0.27981	0.09219376	0.21714	0.11878953	0.27981	0.09219376	0.21714	-3.148	0.11855	T	.	.	0.096	0.15296	B	.;.	.;.	0.409739	0.07807	4.498	0.70801806781604371	0.09415	0.01748	0.05510	N	AEFDBI	0.047830	0.08098	N	-0.938724795867216	0.09947	0.4730972	-1.02818233310184	0.09168	0.4546187	0.481095919814702	0.20786	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.27	2.27	0.27501	0.428000	0.21114	0.541000	0.19334	0.559000	0.28343	0.003000	0.16062	0.002000	0.18203	0.060000	0.15972	1.0:0.0:0.0:0.0	6.224	0.19911	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008656	0.036842	0.008219	0.005988	0.050000	0.017241	0.000000	0.000000	0.05263	1491.81	34	chr5	140476	.	A	G	1491.81	.	AC=2;AF=0.053;AN=38;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.84;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1064	18	1	0	0
chr5	143134	143134	G	C	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon4:c.G1565C:p.R522P	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00175855584309	0.0037	0.00299521	0.0024	0.0068	0.0035	0	0	0.0026	0.0011	0.0004	0.0022445	347	154602	rs115149634	0.0016	0.0016	0.0016	0.0016	0.0060	0.0015	0.0015	0.0053	0.0050	0.0060	0.0039	0.0289	0	9.631e-05	0.0057	0.0008	0.0039	0.0002	0.0031	0.0031	0.0031	0.0030	0.0056	0.0028	0.0027	0.0050	0.0048	0.0056	0	0.0029	0.0352	0	0	0.0102	0.0008	0.0047	0.0002	0.18	0.23905	T	0.303	0.37310	T	0.108	0.26116	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.61	0.28391	T	-0.35	0.12847	N	0.065	0.03726	-1.0259	0.21788	T	0.020	0.08407	T	9	0.0036451817	0.00067	T	0.001759	0.02986	T	0.001	0.00016	.	.	0.0401082797425	0.02173	0.21608568095272865	0.21524	0.117984445979	0.13285	0.260768830776	0.04983	T	0.004572	0.04039	T	-0.655887	0.00067	T	-0.711745	0.05205	T	0.000639064392452799	0.00006	T	0.337566	0.07230	T	0.07227973	0.16068	0.058776293	0.10921	0.07227973	0.16067	0.058776293	0.10920	-1.586	0.01949	T	.	.	0.102	0.20117	B	.;.;.	.;.;.	0.173028	0.05618	2.070	0.51417979575912098	0.04559	0.02399	0.06799	N	AEFGBCI	0.101684	0.20418	N	-1.75728638007804	0.00658	0.02839908	-1.80681168199537	0.00738	0.03287528	0.42210618262882	0.20300	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	2.85	-2.41	0.06184	-0.148000	0.10203	2.035000	0.30272	-0.957000	0.01998	0.000000	0.06391	0.047000	0.21741	0.002000	0.04165	0.5216:0.1755:0.1302:0.1728	1.154	0.01681	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.035354	0.008152	0.005848	0.050000	0.008621	0.003049	0.000000	0.05263	3677.81	33	chr5	143134	.	G	C	3677.81	.	AC=2;AF=0.053;AN=38;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.4;SOR=0.928	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	18	1	0	0
chr5	182139	182139	G	T	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon20:c.G4700T:p.G1567V	.	424	1097	1	0	0	1	0.000455581	.	.	.	2205034	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00327906484156	0.0016	.	0.0013	0.0009	0.0006	0	0.0003	0.0018	0	0.0013	0.0013971	216	154602	rs116432258	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0026	0.0003	0.0008	0.0002	0	0.0002	0.0014	0.0028	0.0016	0.0012	0.0015	0.0015	0.0017	0.0013	0.0026	0.0013	0.0013	0.0023	0.0022	0.0004	0.0011	0.0012	0.0003	0.0002	0	0	0.0026	0.0014	0.0019	0.026	0.46910	D	0.005	0.72224	D	0.48	0.36739	P	0.133	0.33073	B	.	.	.	.	0.946957	0.37548	D	0.69	0.16971	N	1.57	0.29342	T	-4.02	0.74269	D	0.079	0.05414	-1.0615	0.11385	T	0.022	0.09284	T	9	0.017669916	0.00379	T	0.003279	0.07268	T	0.077	0.22490	.	.	0.166414681773	0.16258	0.30353158454232226	0.30266	0.239812433971	0.26528	0.510400593281	0.40279	T	0.127647	0.45481	T	-0.569366	0.00223	T	-0.596489	0.13107	T	0.0339436972409935	0.02628	T	0.40026	0.10182	T	0.20364529	0.42449	0.15142497	0.35669	0.20364529	0.42449	0.15142497	0.35669	-5.765	0.44268	T	.	.	0.207	0.43352	B	.;.	.;.	0.283036	0.06599	3.090	0.96828047674173934	0.31252	0.45356	0.27520	N	AEFBI	0.104182	0.20852	N	-0.85823685602987	0.11847	0.5740645	-0.969205065871348	0.10481	0.5281474	0.97779223492916	0.29856	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	3.37	-4.93	0.02839	1.938000	0.39831	0.192000	0.15754	0.505000	0.23025	1.000000	0.71638	0.445000	0.24923	0.011000	0.09372	0.5007:0.3126:0.1867:0.0	4.540	0.11453	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1505.33	40	chr5	182139	.	G	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.473;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.222;SOR=0.659	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	18	0	1	0
chr5	192358	192358	G	C	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G820C:p.E274Q	.	424	971	119	8	0	135	0.0649976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0031	0.0139776	0.0197	0.0027	0.0040	0	0.0015	0.0100	0.0147	0.0833	0.0091849	1420	154602	rs151096925	0.0083	0.0083	0.0066	0.0099	0.0566	0.0082	0.0081	0.0552	0.0547	0.0012	0.0024	0.0056	0.0001	0.0010	0.0310	0.0056	0.0090	0.0566	0.0056	0.0057	0.0048	0.0066	0.0590	0.0053	0.0052	0.0534	0.0512	0.0013	0	0.0042	0.0049	0.0012	0.0008	0.0136	0.0059	0.0095	0.0590	0.37	0.11550	T	0.44	0.13328	T	0.1	0.25713	B	0.035	0.22741	B	0.058988	0.22358	N	0.518188	0.976539	0.25368	N	2.3	0.65703	M	0.66	0.52416	T	0.7	0.02163	N	0.089	0.06720	-0.9792	0.35186	T	0.052	0.21921	T	10	0.002982378	0.00048	T	.	.	.	0.141	0.37795	.	.	.	.	0.33562876739353953	0.33475	0.235035843099	0.26031	0.359056323767	0.19249	T	0.001039	0.00564	T	-0.589253	0.00169	T	-0.578971	0.14636	T	0.0153130589139103	0.00339	T	0.70293	0.31283	T	0.06743472	0.14603	0.0495207	0.07586	0.06743472	0.14603	0.0495207	0.07585	-2.78	0.08000	T	.	.	0.103	0.18539	B	.	.	1.638414	0.20912	14.97	0.70957301943639306	0.09467	0.68563	0.33850	D	AEFDGBCI	0.192734	0.31988	N	-0.330350993789796	0.28000	1.540847	-0.176249790140483	0.32412	1.843757	0.999992054264738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	4.34	0.51267	3.683000	0.54396	6.321000	0.55444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.362000	0.25931	0.1424:0.2363:0.6213:0.0	4.376	0.10705	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015657	0.000000	0.012262	0.000000	0.000000	0.008621	0.030864	0.045802	0.02632	2830.33	210	chr5	192358	.	G	C	2830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=849;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.852;SOR=0.624	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1250	18	0	1	0
chr5	236504	236504	T	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.T1193C:p.V398A,SDHA:NM_001330758:exon10:c.T1337C:p.V446A,SDHA:NM_004168:exon10:c.T1337C:p.V446A	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1415	107	0	0	107	0.0364317	.	.	YES	1685197	Pulmonary_artery_atresia|Hereditary_cancer-predisposing_syndrome|Paragangliomas_5|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Dilated_cardiomyopathy_1GG	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.760	0.184775381618	.	.	9.889e-05	9.625e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs201741295	2.059e-06	0.0011	0	4.141e-06	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	1.878e-05	0	9.019e-07	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.005	0.72224	D	0.99	0.63424	D	0.909	0.64565	D	0.000109	0.50451	U	0.079100	1	0.81001	D	3.045	0.86684	M	-0.69	0.72678	T	-3.71	0.70674	D	0.605	0.65501	0.300	0.87565	D	0.577	0.84734	D	10	0.8255681	0.81738	D	0.184775	0.85771	D	0.760	0.91837	.	.	0.877245150884	0.87604	0.9245805198306615	0.92435	1.43342670029	0.85851	0.776162147522	0.78349	T	0.48089	0.82175	T	0.346948	0.86301	D	0.260591	0.86122	D	0.977276384830475	0.71767	D	0.756924	0.38041	T	0.79741704	0.83741	0.61894715	0.77809	0.79741704	0.83742	0.61894715	0.77809	-10.828	0.79062	D	0.4833891528602471	0.56162	0.972	0.92208	P	.;.;.;.	.;.;.;.	4.072770	0.60521	24.2	0.99699264171042234	0.80522	0.98006	0.78815	D	AEFBI	0.826800	0.74621	D	0.617996920376637	0.74313	6.111484	0.515888237046089	0.69056	5.306516	0.999969461029374	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	5.979000	0.70194	7.814000	0.69527	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.0:0.0:1.0	12.955	0.57820	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	309.83	35	chr5	236504	.	T	C	309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.239;DP=880;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.72;MQRankSum=-9.12;QD=1.24;ReadPosRankSum=0.133;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1378:.	17	0	2	0
chr5	236513	236513	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1202T:p.A401V,SDHA:NM_001330758:exon10:c.C1346T:p.A449V,SDHA:NM_004168:exon10:c.C1346T:p.A449V	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1405	117	0	0	117	0.0399727	.	.	.	539257	Hereditary_cancer-predisposing_syndrome|Dilated_cardiomyopathy_1GG|not_provided|Paragangliomas_5|Pulmonary_artery_atresia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.458733665052	.	0.00179712	9.89e-05	9.619e-05	0	0	0	0.0002	0	0	0.0001746	27	154602	rs201139275	5.507e-06	0.0017	2.738e-06	8.307e-06	0.0002	2.37e-06	1.71e-06	7.2e-07	2e-07	2.996e-05	0	0	0	5.64e-05	0.0002	2.715e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.64786	D	0.99	0.63424	D	0.585	0.50320	P	0.000265	0.46590	U	0.142014	1	0.81001	D	5.24	0.99965	H	-0.53	0.70833	T	-3.66	0.70067	D	0.748	0.74918	0.907	0.95770	D	0.762	0.91911	D	10	0.8196605	0.81179	D	0.458734	0.94474	D	0.699	0.89145	.	.	0.826059350657	0.82441	0.9492272012192984	0.94905	0.97409143716	0.73497	0.716711103916	0.69567	T	0.531492	0.83795	D	0.371442	0.88153	D	0.295774	0.88003	D	0.998724400997162	0.94977	D	0.872113	0.57861	D	0.9627981	0.97560	0.8899889	0.94266	0.9627981	0.97560	0.8899889	0.94266	-16.024	0.97797	D	0.9231894733639014	0.96700	0.996	0.96661	P	.;.;.;.	.;.;.;.	3.977713	0.58453	24.0	0.99927253316716125	0.99163	0.96878	0.71431	D	AEFBI	0.862645	0.78097	D	0.643185451586592	0.75929	6.393532	0.534785209024911	0.70347	5.491716	0.999999917444827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	5.874000	0.69399	7.567000	0.60617	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:1.0:0.0:0.0	15.909	0.79242	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	331.83	35	chr5	236513	.	C	T	331.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.826;DP=893;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-9.646;QD=1.29;ReadPosRankSum=1.79;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1378:.	17	0	2	0
chr5	433951	433951	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1211T:p.A404V,AHRR:NM_001377239:exon11:c.C1211T:p.A404V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.025828436759	0.0003	0.000599042	0.0004	0	8.825e-05	0	0.0003	0.0006	0	0.0001	0.0003816	59	154602	rs201569850	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	9.442e-05	0.0002	0	0	0.0005	0.0002	0.0003	0.0002	2.656e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	0.0003	0	0	9.418e-05	0	0.0005	0.0005	0	0.27	0.34444	T	0.881	0.10354	T	0.004	0.44271	B	0.003	0.36167	B	0.939548	0.08364	N	0.973329	1	0.08975	N	0.895	0.22405	L	2.1	0.53943	T	-0.25	0.18670	N	0.114	0.10198	-1.0435	0.16265	T	0.116	0.40942	T	10	0.0179528	0.00387	T	0.025828	0.48779	D	0.030	0.07022	.	.	0.616412033367	0.61331	0.13610504137465992	0.13534	0.0974575988704	0.11007	0.27148348093	0.06336	T	0.079772	0.36208	T	-0.423218	0.01632	T	-0.515698	0.20733	T	0.0192210393528041	0.00628	T	0.486851	0.15971	T	0.025071863	0.01405	0.038049296	0.03591	0.025071863	0.01404	0.038049296	0.03590	-4.272	0.28107	T	.	.	0.081	0.32030	B	.;.;.;.;.	.;.;.;.;.	0.674267	0.10428	7.148	0.98948624906234073	0.49093	0.22268	0.21689	N	AEFDGBCI	0.073790	0.14771	N	-0.699477162552217	0.16036	0.8135527	-0.744593985971622	0.15854	0.835934	0.999999841459146	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.53	3.66	0.41111	0.742000	0.25884	-0.296000	0.10153	-0.816000	0.03012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8917:0.0:0.1083	8.628	0.33063	851	0.35303	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	774.33	37	chr5	433951	.	C	T	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.58;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,30:72:99:788,0,1134	18	0	1	0
chr5	434019	434019	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1279T:p.R427C,AHRR:NM_001377239:exon11:c.C1279T:p.R427C	.	400	1120	1	1	0	3	0.00133749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00857920226826	7.9e-05	0.000199681	4.617e-05	0	8.828e-05	0.0001	0	3.205e-05	0	9.779e-05	5.82e-05	9	154602	rs369824795	5.771e-05	6.43e-05	7.866e-05	3.643e-05	0.0011	4.753e-05	4.371e-05	0.0005	0.0003	3.04e-05	7.207e-05	0	7.58e-05	0	0.0011	5.536e-05	0.0001	3.674e-05	7.881e-05	7.874e-05	6.425e-05	9.403e-05	0.0002	4.495e-05	3.511e-05	5.845e-05	4.241e-05	4.813e-05	0	0	0	0.0002	0	0	0.0001	0	0.0002	0.282	0.19927	T	0.075	0.92824	T	0.004	0.13644	B	0.001	0.08700	B	0.845613	0.07026	N	1.073180	1	0.08975	N	0.805	0.20218	L	2.28	0.42122	T	-0.09	0.08340	N	0.044	0.01658	-0.9965	0.30892	T	0.080	0.31615	T	10	0.030716091	0.01200	T	0.008579	0.22680	T	0.018	0.03083	.	.	0.319402600006	0.31557	0.20328936030873337	0.20245	0.111945420288	0.12630	0.181391596794	0.00107	T	0.063603	0.32217	T	-0.401093	0.02277	T	-0.544619	0.17846	T	0.016882856506323	0.00440	T	0.576842	0.21689	T	0.05234639	0.09748	0.029687785	0.01334	0.05234639	0.09748	0.029687785	0.01334	-3.298	0.13997	T	.	.	0.071	0.13315	B	.;.;.;.;.	.;.;.;.;.	0.835173	0.12065	8.621	0.74973763792539894	0.10897	0.04394	0.09977	N	AEFDGBCI	0.051485	0.09100	N	-1.22708723316794	0.04611	0.2084477	-1.26577505119734	0.04901	0.2323106	0.999991303186654	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.92	-0.614	0.11009	0.801000	0.26716	-0.813000	0.07327	-0.231000	0.07715	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	0.0:0.4997:0.0:0.5003	8.274	0.31018	851	0.35303	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1038.33	37	chr5	434019	.	C	T	1038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=839;ExcessHet=0;FS=2.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-1.576;SOR=0.441	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	0	1	0
chr5	434581	434581	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1841G:p.A614G,AHRR:NM_001377239:exon11:c.C1841G:p.A614G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00740132644651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	1.368e-06	0	2.831e-06	9.137e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.137e-07	1.694e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.31682	T	0.324	0.18903	T	0.651	0.43659	P	0.15	0.43381	B	0.062645	0.02158	N	2.037110	1	0.08975	N	1.24	0.30952	L	2.13	0.25018	T	-1.1	0.34397	N	0.236	0.26596	-0.9953	0.31218	T	0.059	0.24760	T	10	0.09944296	0.18047	T	0.007401	0.19630	T	0.045	0.12272	0.275	0.22687	0.444102476654	0.44032	0.08704438153774698	0.08638	0.216955615391	0.24212	0.405323177576	0.25808	T	0.106057	0.41707	T	-0.254168	0.13591	T	-0.602871	0.12572	T	0.28731444478035	0.24477	T	0.675632	0.28448	T	0.10975059	0.25946	0.070184916	0.14880	0.10975059	0.25946	0.070184916	0.14879	-3.103	0.11330	T	.	.	0.094	0.25166	B	.;.;.;.	.;.;.;.	0.903565	0.12774	9.293	0.96366413413184671	0.29570	0.34353	0.25047	N	AEFDGBCI	0.068185	0.13440	N	-0.575793876995246	0.19682	1.031988	-0.644486031585379	0.18356	0.9802229	0.999999882348898	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.75	3.88	0.43959	0.423000	0.21032	1.529000	0.27146	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.9065:0.0:0.0935	10.844	0.45938	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1108.33	37	chr5	434581	.	C	G	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.23;DP=863;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.44;SOR=0.422	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	0	1	0
chr5	434610	434610	G	C	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.G1870C:p.G624R,AHRR:NM_001377239:exon11:c.G1870C:p.G624R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00248836847498	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs758412461	2.124e-06	3.42e-06	2.801e-06	1.432e-06	2.761e-06	5.7e-07	1.6e-07	7.4e-07	2e-07	0	0	0	0	0	0	2.761e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.01	0.59928	D	0.041	0.51112	D	0.93	0.51791	P	0.602	0.54098	P	0.951165	0.08286	U	0.974151	1	0.08975	N	0.975	0.24501	L	2.11	0.25182	T	-1.28	0.43334	N	0.299	0.33796	-1.0255	0.21919	T	0.061	0.25419	T	10	0.13613474	0.25903	T	0.002488	0.04953	T	0.066	0.19193	0.208	0.12497	0.555395099047	0.55198	0.19968527402416866	0.19885	0.416773279345	0.42313	0.408477663994	0.26245	T	0.085853	0.37594	T	-0.26438	0.12392	T	-0.61754	0.11379	T	0.365711324431975	0.27631	T	0.544146	0.18565	T	0.08448464	0.19557	0.057802387	0.10572	0.08448464	0.19557	0.057802387	0.10572	-3.363	0.14563	T	.	.	0.087	0.27613	B	.;.;.;.	.;.;.;.	0.592603	0.09609	6.384	0.9697086387456475	0.31819	0.26655	0.23055	N	AEFDGBCI	0.076514	0.15394	N	-0.708181034787475	0.15790	0.7989441	-0.899039578965062	0.12116	0.6214053	0.999991085397722	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	3.32	0.371	0.15400	0.333000	0.19512	-0.540000	0.08588	-0.127000	0.13314	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.524:0.0:0.476:0.0	5.787	0.17603	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1098.33	53	chr5	434610	.	G	C	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=860;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.322;SOR=0.742	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr5	456900	456900	T	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.T1058C:p.M353T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0327483992177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.087	0.40747	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.95	0.09635	T	-5.07	0.82830	D	0.959	0.96871	-1.1558	0.00862	T	0.046	0.19720	T	10	0.85332453	0.84519	D	0.032748	0.54489	D	0.416	0.72631	.	.	0.448695639987	0.44491	0.7972939807111323	0.79682	1.36097439738	0.84334	0.697127759457	0.66729	T	.	.	.	0.231947	0.76904	D	0.0953997	0.76603	D	0.976268410682678	0.71301	D	0.693931	0.30359	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.85879	P	.;.	.;.	3.781491	0.54376	23.5	0.8777285513150509	0.17471	0.99768	0.99325	D	AEFGBI	0.864947	0.78389	D	0.409402838030544	0.61938	4.401956	0.419333730679179	0.62771	4.49814	0.999999999997734	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	7.273000	0.77921	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	0.0:0.0:0.0:1.0	13.968	0.63733	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	210.33	46	chr5	456900	.	T	C	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.947;DP=874;ExcessHet=0;FS=103.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.701;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	456901	456901	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1059C:p.M353I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0271099031779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.03	0.54159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.89	0.60665	D	0.888	0.88687	-1.2277	0.00034	T	0.062	0.25851	T	10	0.81497514	0.80745	D	0.02711	0.49956	D	0.366	0.68582	.	.	0.51149840189	0.50791	0.7405449523333545	0.73999	1.17867541497	0.79965	0.611596047878	0.54542	T	.	.	.	0.185596	0.72557	D	0.0288195	0.72202	D	0.964093804359436	0.66854	D	0.891311	0.62583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.914	0.83884	P	.;.	.;.	4.212237	0.63645	24.6	0.99379336117839967	0.61803	0.99869	0.99902	D	AEFGBI	0.889648	0.82393	D	0.684126686693678	0.78592	6.902855	0.65103417915733	0.78689	6.926664	0.999999999999998	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	9.041000	0.93262	11.630000	0.93694	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.318000	0.24924	0.0:0.0:1.0:0.0	17.396	0.87335	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	207.33	46	chr5	456901	.	G	C	207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.367;DP=875;ExcessHet=0;FS=104.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.709;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	456903	456903	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1061C:p.R354T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00491174706199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.414	0.14369	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048576	0.96765	0.38608	D	.	.	.	3.34	0.06063	T	-0.64	0.18670	N	0.385	0.42639	-0.9437	0.42025	T	0.018	0.07282	T	10	0.22769243	0.39655	T	0.004912	0.12349	T	0.149	0.39377	.	.	0.043077524339	0.03247	0.5104654353507357	0.50968	0.755530937146	0.63995	0.412903040648	0.26859	T	.	.	.	-0.149893	0.28329	T	-0.453088	0.27356	T	0.73859828710556	0.42662	D	0.893211	0.63049	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27009	B	.;.	.;.	3.629771	0.51407	23.1	0.92190280456007834	0.21558	0.99424	0.95853	D	AEFGBI	0.790738	0.71954	D	-0.0571632889066456	0.39282	2.31405	0.1163447328848	0.45383	2.80254	0.999999999999998	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	7.081000	0.76522	11.630000	0.93694	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:1.0:0.0	17.396	0.87335	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	204.33	46	chr5	456903	.	G	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.9;DP=874;ExcessHet=0;FS=102.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.875;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	456904	456904	G	C	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon5:c.G1062C:p.R354S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00487546295081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.605	0.07816	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048576	0.978213	0.25263	N	.	.	.	3.47	0.05188	T	0.8	0.01866	N	0.356	0.39760	-0.9435	0.42057	T	0.009	0.03011	T	10	0.103606105	0.19055	T	0.004875	0.12224	T	0.180	0.45073	.	.	0.0675242888579	0.06100	0.49945505262421797	0.49866	0.56158804593	0.52659	0.390961647034	0.23806	T	.	.	.	-0.206441	0.19882	T	-0.534314	0.18859	T	0.1545639783144	0.17460	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26855	B	.;.	.;.	1.480195	0.19053	14.07	0.77944614042596394	0.12089	0.80637	0.40223	D	AEFGBI	0.224929	0.34909	N	-0.933739883060225	0.10060	0.4789768	-0.815091575412386	0.14129	0.7367127	0.999881363924076	0.44867	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.57	-0.641	0.10913	0.133000	0.15736	0.860000	0.22220	-0.106000	0.15538	0.965000	0.33920	0.998000	0.33993	0.204000	0.22012	0.5515:0.0:0.4485:0.0	9.801	0.39932	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	204.33	46	chr5	456904	.	G	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.224;DP=875;ExcessHet=0;FS=102.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.904;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	637563	637563	G	T	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon7:c.G951T:p.L317F	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00324495557901	0.0004	0.00159744	0.0012	0	0.0002	0	0	0.0007	0.0011	0.0061	0.0010543	163	154602	rs150033054	0.0006	0.0006	0.0004	0.0008	0.0054	0.0006	0.0006	0.0050	0.0049	0.0001	0.0003	0.0064	0	0	0.0040	0.0001	0.0011	0.0054	0.0005	0.0005	0.0004	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	2.405e-05	0	0.0010	0.0055	0	0	0.0034	0.0002	0.0005	0.0054	0.033	0.44358	D	0.07	0.43721	T	0.232	0.30664	B	0.118	0.32088	B	0.735500	0.06396	N	1.136510	1	0.08975	N	1.75	0.45442	L	2.7	0.12162	T	-0.86	0.23372	N	0.117	0.10626	-0.9808	0.34817	T	0.037	0.16073	T	10	0.004119903	0.00081	T	0.003245	0.07147	T	0.027	0.05988	0.112	0.02175	0.156986980423	0.15292	0.08609404244943407	0.08543	0.239248816487	0.26478	0.274086475372	0.06681	T	0.04308	0.26389	T	-0.632771	0.00092	T	-0.680203	0.06972	T	0.014869069177222	0.00315	T	0.305369	0.05850	T	0.050137132	0.09012	0.063994564	0.12761	0.050137132	0.09011	0.063994564	0.12760	-4.731	0.33777	T	.	.	0.084	0.09917	B	.	.	1.335271	0.17408	13.15	0.98905530388145735	0.48272	0.12029	0.17015	N	AEFDGBCI	0.039193	0.05659	N	-0.637750247959347	0.17818	0.920143	-0.697870215812265	0.17013	0.9027411	0.855436865648317	0.25123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	2.94	0.33188	1.309000	0.33145	0.959000	0.22978	0.676000	0.76740	0.047000	0.21291	0.000000	0.08366	0.011000	0.09372	0.2084:0.0:0.7916:0.0	6.797	0.22915	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1394.33	34	chr5	637563	.	G	T	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.485;DP=764;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.297;SOR=0.48	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1271	18	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.02632	374.33	39	chr5	840546	.	A	G	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.283;DP=1251;ExcessHet=0;FS=7.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.89;MQRankSum=-19.33;QD=0.88;ReadPosRankSum=-3.298;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1556:.	18	0	1	0
chr5	843684	843684	G	T	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon4:c.C544A:p.L182I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00283197213448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.158	0.31629	T	0.437	0.35811	B	0.45	0.46092	P	0.143443	0.02904	U	2.304150	1	0.19694	N	.	.	.	1.79	0.25509	T	-0.74	0.20791	N	0.191	0.20925	-0.9942	0.31512	T	0.061	0.25528	T	10	0.12022483	0.22767	T	0.002832	0.05927	T	0.064	0.18567	0.406	0.43902	0.0884992946249	0.08302	0.2648074907156374	0.26393	2.33779716334	0.96738	0.305630385876	0.11246	T	0.003604	0.03010	T	-0.317052	0.07142	T	-0.693199	0.06206	T	0.257236033678055	0.23194	T	0.414759	0.10842	T	0.067627	0.14661	0.052630078	0.08707	0.067627	0.14661	0.052630078	0.08707	-6.668	0.51569	T	.	.	0.116	0.23430	B	.	.	1.156244	0.15446	11.86	0.967014645630626	0.30777	0.01599	0.05190	N	AEFGI	0.062958	0.12134	N	-1.18418081837755	0.05239	0.238356	-1.29580383312888	0.04487	0.2117657	4.70695244586783E-4	0.07066	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.98	-0.713	0.10657	-0.932000	0.04072	0.027000	0.13676	-0.403000	0.05289	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.0:0.4074:0.4382:0.1544	8.409	0.31795	946	0.12043	Palmitoyltransferase, DHHC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	658.33	208	chr5	843684	.	G	T	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=1911;ExcessHet=0;FS=2.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.48;MQRankSum=-4.678;QD=1.55;ReadPosRankSum=0.622;SOR=0.98	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr5	886722	886722	T	C	exonic	BRD9	.	nonsynonymous SNV	BRD9:NM_001317951:exon7:c.A415G:p.M139V,BRD9:NM_001375861:exon7:c.A763G:p.M255V,BRD9:NM_001375862:exon7:c.A763G:p.M255V,BRD9:NM_001375863:exon7:c.A769G:p.M257V,BRD9:NM_001375877:exon7:c.A763G:p.M255V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0368179920128	0.0002	.	0.0002	9.623e-05	0	0	0	0.0003	0	6.057e-05	0.0001423	22	154602	rs372148233	3.352e-05	3.352e-05	2.45e-05	4.263e-05	4.047e-05	2.566e-05	2.312e-05	3.085e-05	2.753e-05	0	0	0	0	3.749e-05	0	4.047e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.07	0.35349	T	.	.	.	.	.	.	.	.	.	0.000973	0.40836	N	0.134947	1	0.81001	D	.	.	.	1.39	0.33842	T	-0.56	0.17003	N	.	.	-1.0890	0.05701	T	0.057	0.23904	T	8	0.1021342	0.18703	T	0.036818	0.57230	D	0.039	0.10176	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.360642	0.04094	T	-0.481514	0.24285	T	0.152596294879913	0.17308	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.45372	B	.	.	1.873071	0.23790	16.15	0.97782121485233564	0.35938	0.96854	0.71299	D	AEFDBCI	0.709246	0.66340	D	-0.161932523107573	0.34728	1.985837	-0.0171929354622074	0.38939	2.301336	0.999999723286762	0.74766	0.562547	0.31514	0	0.552637	0.17590	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.52	3.15	0.35301	5.793000	0.68709	0.625000	0.20170	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1461:0.0:0.8539	9.381	0.37476	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1013.33	39	chr5	886722	.	T	C	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=721;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.042;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	18	0	1	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W	.	425	1060	35	2	0	39	0.0180639	.	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.033804	0.015152	0.044959	0.047059	0.100000	0.068966	0.018405	0.007634	0.02632	835.33	35	chr5	1037960	.	C	T	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.596;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr5	1038305	1038305	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C1288T:p.R430W	.	440	1078	3	0	1	4	0.00138953	.	.	.	3362195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0417665895515	.	0.000199681	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs550078185	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	6.232e-05	8.157e-05	0	2.741e-05	0	0.0004	8.395e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0015	6.509e-05	5.321e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	8.823e-05	0	0.0015	0.043	0.41364	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	U	0.000000	0.998365	0.81001	D	2.085	0.57729	M	0.26	0.59314	T	-4.65	0.79399	D	0.298	0.33687	-0.8179	0.54065	T	0.200	0.55625	T	10	0.06571761	0.08907	T	0.041767	0.60104	D	0.256	0.56694	0.37	0.38013	0.651212884413	0.64831	0.42757223575471176	0.42674	0.300067500273	0.32371	0.587402582169	0.51128	T	0.538501	0.84155	D	-0.34805	0.04851	T	-0.308105	0.43861	T	0.512789070606232	0.33100	D	0.538446	0.18153	T	0.17342444	0.38090	0.12964079	0.31166	0.17342444	0.38090	0.12964079	0.31165	-11.405	0.81832	D	.	.	0.317	0.54309	B	.	.	3.184585	0.43240	21.7	0.99708233406217994	0.81143	0.42382	0.26865	N	AEFGBI	0.281190	0.39483	N	-0.352948940419374	0.27163	1.488173	-0.499674856150576	0.22163	1.202453	0.227744558569149	0.18430	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	3.59	-0.942	0.09869	-0.033000	0.12196	0.716000	0.20974	-0.223000	0.07921	0.918000	0.31901	0.983000	0.30585	0.749000	0.35751	0.7758:0.2242:0.0:0.0	10.155	0.41991	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1030.33	35	chr5	1038305	.	C	T	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=777;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.2;SOR=0.586	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr5	1057585	1057585	G	A	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon22:c.C2912T:p.P971L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0517262187236	0.0002	.	6.625e-05	0.0003	8.652e-05	0.0001	0	3.021e-05	0	6.062e-05	5.17e-05	8	154602	rs373266073	2.262e-05	2.257e-05	1.637e-05	2.893e-05	0.0002	1.613e-05	1.419e-05	0.0001	8.675e-05	0.0002	4.474e-05	0	5.039e-05	0	0.0002	1.439e-05	4.97e-05	1.159e-05	0.0001	0.0001	0.0001	8.068e-05	0.0004	7.09e-05	5.747e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0.0005	0	0.135	0.26192	T	0.13	0.34716	T	0.053	0.22573	B	0.018	0.18489	B	0.786654	0.09429	N	0.886185	1	0.08975	N	1.87	0.49600	L	-1.07	0.76948	T	-3.08	0.63323	D	0.099	0.08088	-0.8784	0.49888	T	0.274	0.64556	T	10	0.07410991	0.11286	T	0.051726	0.64779	D	0.092	0.26621	.	.	0.454798141022	0.45104	0.19739115739292615	0.19656	0.315350389916	0.33813	0.44849050045	0.31738	T	0.700391	0.91368	D	-0.343998	0.05117	T	-0.401904	0.33163	T	0.0139767489734208	0.00268	T	0.668933	0.27772	T	0.03524199	0.04110	0.04031469	0.04329	0.03524199	0.04110	0.04031469	0.04329	-4.895	0.35678	T	.	.	0.063	0.01491	B	.	.	1.023024	0.14027	10.59	0.6491276636249792	0.07625	0.05639	0.11550	N	AEFDGBI	0.085784	0.17391	N	-1.12339171129501	0.06229	0.2861805	-1.18381708599833	0.06179	0.2966466	0.693632316236433	0.22617	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.39	1.5	0.22029	-0.620000	0.05661	-0.071000	0.12298	-1.758000	0.00680	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2147:0.0:0.611:0.1743	4.597	0.11726	976	0.04745	SLC12A transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	45	chr5	1057585	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1094;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.052;SOR=0.714	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr5	1078717	1078717	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon11:c.G1438A:p.V480M	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.647330518931	0.0025	0.00139776	0.0015	0.0004	0.0005	0	0	0.0024	0.0012	0.0009	0.0016494	255	154602	rs151053159	0.0030	0.0030	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0008	0.0010	0.0005	0	0.0004	0.0010	0.0036	0.0027	0.0008	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0026	0.0025	0.0005	0	0.0021	0.0006	0.0002	9.459e-05	0	0.0030	0.0024	0.0008	0.142	0.25457	T	0.248	0.23845	T	0.741	0.42992	P	0.166	0.35067	B	0.002162	0.37095	N	0.224855	0.998951	0.45755	D	1.765	0.45800	L	-5.07	0.98648	D	-1.59	0.38345	N	0.59	0.61002	0.870	0.95272	D	0.860	0.95329	D	10	0.041894913	0.02887	T	0.647331	0.97008	D	0.568	0.82403	.	.	0.930472019721	0.92976	0.7777339338642765	0.77723	0.956542286108	0.72841	0.679503798485	0.64197	T	0.614764	0.87842	D	-0.128726	0.31703	T	0.0421726	0.73069	D	0.0370793996680994	0.03170	T	0.976302	0.91743	D	0.09222915	0.21633	0.117353834	0.28330	0.09222915	0.21633	0.117353834	0.28329	-12.055	0.85118	D	.	.	0.342	0.56011	A	.	.	3.725271	0.53253	23.3	0.99772161387705216	0.86003	0.97855	0.77635	D	AEFGBI	0.764406	0.70121	D	-0.016782210147003	0.41095	2.452109	-0.0162198795516365	0.38983	2.304548	0.799667741121645	0.24163	0.706548	0.73137	0	0.78372	0.99691	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.71	3.71	0.41733	6.820000	0.75057	7.521000	0.59763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:1.0:0.0:0.0	14.979	0.70950	976	0.04745	Amino acid permease/ SLC12A domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	520.33	36	chr5	1078717	.	C	T	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=713;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=1.05;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1000	18	0	1	0
chr5	1216812	1216812	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon8:c.G1040A:p.G347E	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0196523290829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.71	0.05525	T	0.003	0.11197	B	0.006	0.12133	B	0.089063	0.20447	N	0.546335	1	0.08975	N	0.675	0.16386	N	-0.73	0.73100	T	1.15	0.01151	N	0.252	0.28498	-1.0746	0.08431	T	0.114	0.40605	T	10	0.08980599	0.15590	T	0.019652	0.42067	T	0.187	0.46274	0.547	0.66156	0.318252033908	0.31440	0.7660285132573611	0.76551	0.386860189921	0.39976	0.401363819838	0.25258	T	0.048092	0.27915	T	-0.101888	0.36113	T	-0.384131	0.35239	T	0.0299772681369198	0.01985	T	0.162684	0.01473	T	0.047160346	0.08015	0.0824583	0.18822	0.047160346	0.08014	0.0824583	0.18822	-7.58	0.58171	D	.	.	0.104	0.18869	B	.	.	-0.280195	0.02706	0.354	0.44357329132370638	0.03404	0.06399	0.12402	N	AEFGBI	0.103425	0.20721	N	-1.52941380551447	0.01659	0.07256962	-1.50372391234481	0.02315	0.1062956	0.992533893105164	0.32874	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	-3.2	0.04838	0.109000	0.15252	-0.432000	0.09215	-3.158000	0.00116	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.8432:0.1568:0.0	22.101	0.99968	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2571.33	44	chr5	1216812	.	G	A	2571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.874;DP=1150;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=1.11;SOR=0.838	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr5	1225604	1225604	C	G	exonic	SLC6A18	.	nonsynonymous SNV	SLC6A18:NM_182632:exon1:c.C127G:p.R43G	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.262667102352	0.0006	0.000599042	0.0014	0	0	0.0016	0.0068	0.0014	0.0059	8.049e-05	0.0010867	168	154602	rs149753564	0.0007	0.0007	0.0007	0.0007	0.0019	0.0007	0.0007	0.0015	0.0014	3.013e-05	0	0.0004	0.0019	0.0062	0.0002	0.0005	0.0008	0.0002	0.0009	0.0009	0.0007	0.0011	0.0023	0.0008	0.0007	0.0013	0.0010	4.81e-05	0	0	0.0006	0.0023	0.0075	0	0.0006	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999139	0.46149	D	4.49	0.98946	H	-1.82	0.84047	D	-6.5	0.91609	D	0.89	0.88909	0.724	0.93470	D	0.823	0.94047	D	10	0.11447504	0.21539	T	0.262667	0.89570	D	0.713	0.89786	.	.	0.7960818893	0.79418	0.9169428837807593	0.91669	0.779189367419	0.65192	0.582666516304	0.50460	T	0.520737	0.83235	D	0.0687772	0.60701	T	0.285484	0.87419	D	0.237438497913003	0.22301	T	0.997467	0.98967	D	0.9197621	0.93225	0.8764369	0.93313	0.9197621	0.93226	0.8764369	0.93313	-14.199	0.93685	D	.	.	0.281	0.51367	B	.	.	2.642305	0.34385	19.61	0.99403457747795665	0.62934	0.67976	0.33629	D	AEFGBI	0.411190	0.48176	N	0.0675868305603666	0.44955	2.76029	-0.239950897909068	0.30119	1.693133	0.945171374086937	0.27648	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.12	-5.13	0.02665	-0.149000	0.10189	0.516000	0.19122	-0.316000	0.05924	0.728000	0.28902	0.934000	0.28616	0.100000	0.18284	0.253:0.747:0.0:0.0	18.904	0.92425	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1755.33	72	chr5	1225604	.	C	G	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1190;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.963;SOR=0.613	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr5	1798638	1798638	G	C	exonic	MRPL36	.	nonsynonymous SNV	MRPL36:NM_032479:exon2:c.C298G:p.Q100E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0390091900602	.	.	8.335e-06	0	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs758373620	3.979e-05	3.967e-05	4.772e-05	3.176e-05	0.0002	3.122e-05	2.855e-05	3.556e-05	3.215e-05	2.993e-05	0	0	0	0	0.0002	4.601e-05	8.299e-05	0	5.26e-05	5.254e-05	3.856e-05	6.732e-05	0.0001	2.559e-05	1.831e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.008	0.67890	D	0.997	0.70673	D	0.995	0.83170	D	0.000004	0.62929	D	0.000000	0.999958	0.52396	D	4.325	0.98363	H	.	.	.	-2.89	0.60665	D	0.818	0.81360	0.385	0.88873	D	0.574	0.84599	D	9	0.81561553	0.80804	D	0.039009	0.58559	D	0.394	0.70924	0.586	0.71371	0.136095386433	0.13204	0.46812013784364825	0.46731	0.23410116099	0.25944	0.625137686729	0.56456	T	0.545842	0.84533	D	0.222549	0.76017	D	0.0973854	0.76735	D	0.994976937770844	0.86616	D	0.89781	0.64256	D	0.9173209	0.92988	0.8202309	0.89553	0.9173209	0.92989	0.8202309	0.89553	-11.358	0.81585	D	0.8585204185430021	0.92265	0.591	0.68678	P	.;.;.;.	.;.;.;.	4.260267	0.64735	24.7	0.99293423457645991	0.58362	0.97100	0.72689	D	AEFGB	0.792574	0.72083	D	0.683698535660782	0.78563	6.897179	0.514705906208883	0.68979	5.295299	0.999999998738328	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.18	4.18	0.48473	6.847000	0.75201	11.259000	0.91010	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.0:0.0:1.0:0.0	13.496	0.60883	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000534	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	2883.33	34	chr5	1798638	.	G	C	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.546;DP=857;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.71;MQRankSum=-1.582;QD=12.43;ReadPosRankSum=-0.829;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	18	0	1	0
chr5	2753330	2753330	G	C	exonic	C5orf38	.	nonsynonymous SNV	C5orf38:NM_001306149:exon3:c.G379C:p.A127P,C5orf38:NM_001306150:exon3:c.G379C:p.A127P,C5orf38:NM_178569:exon3:c.G379C:p.A127P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00833025945994	0.0002	.	0.0002	0	0.0003	0	0	0.0003	0.0011	6.062e-05	0.0001488	23	154602	rs150419625	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0001	0.0019	0.0015	5.975e-05	0.0002	0.0034	0	0	0.0029	8.995e-05	0.0003	8.115e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0	0	0.0004	0.0023	0	0	0.0103	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.455	0.46267	P	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-4.17	0.75456	D	0.227	0.25745	-1.0177	0.24463	T	0.038	0.16591	T	8	0.01376757	0.00291	T	0.00833	0.22055	T	0.142	0.37995	.	.	0.0482279557977	0.04254	0.0569419881126778	0.05635	0.363252834742	0.37958	0.253422498703	0.04137	T	0.096227	0.39781	T	-0.31336	0.07456	T	-0.386175	0.35000	T	0.128159333149179	0.15211	T	0.341666	0.07415	T	0.32167262	0.54781	0.45075184	0.68038	0.32167262	0.54781	0.45075184	0.68039	-3.351	0.14404	T	.	.	0.194	0.41418	B	.;.	.;.	-0.426243	0.02117	0.201	0.60768556736038715	0.06544	0.01789	0.05595	N	AEFDBHCI	0.038366	0.05420	N	-0.901775079845004	0.10801	0.5179268	-1.13348138215383	0.07068	0.3424511	0.999998260987866	0.74766	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	1.79	-3.05	0.05069	-1.686000	0.02030	-1.140000	0.06212	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.687:0.0:0.313:0.0	8.067	0.29831	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1468.33	35	chr5	2753330	.	G	C	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=775;ExcessHet=0;FS=6.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.393;SOR=1.213	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1339	18	0	1	0
chr5	5464420	5464420	C	A	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.C5086A:p.P1696T	.	418	1084	19	1	0	21	0.00959342	.	.	.	699115	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00696914659558	0.0019	0.00159744	0.0016	0.0039	0.0009	0	0.0002	0.0013	0.0023	0.0035	0.0015006	232	154602	rs201780270	0.0010	0.0010	0.0009	0.0011	0.0097	0.0010	0.0010	0.0077	0.0069	0.0058	0.0010	0.0070	0	7.493e-05	0.0097	0.0006	0.0020	0.0030	0.0023	0.0023	0.0022	0.0023	0.0050	0.0021	0.0020	0.0045	0.0043	0.0050	0	0.0029	0.0075	0.0002	0.0002	0.0068	0.0006	0.0028	0.0019	0.306	0.14207	T	0.751	0.04790	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.84	0.10674	T	-0.95	0.25332	N	0.018	0.00252	-0.9285	0.44357	T	0.008	0.02801	T	9	0.0038103461	0.00071	T	0.006969	0.18458	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.11298806026524169	0.11226	0.104874384788	0.11861	0.278141140938	0.07234	T	0.014733	0.12488	T	-0.713136	0.00030	T	-0.795089	0.02028	T	0.000480072017607736	0.00004	T	0.682432	0.29103	T	0.022594998	0.00933	0.033577852	0.02276	0.022594998	0.00933	0.033577852	0.02276	-4.271	0.27768	T	.	.	0.076	0.05800	B	.	.	0.066843	0.04764	1.383	0.46320027297151689	0.03701	0.03164	0.08136	N	AEFGBI	0.021940	0.01037	N	-1.39993683557654	0.02640	0.1168466	-1.39235374901299	0.03333	0.1552532	0.997232817439051	0.35404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-1.79	0.07504	0.940000	0.28589	0.027000	0.13676	-0.257000	0.07002	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.4909:0.1542:0.2591:0.0957	3.059	0.05819	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.006793	0.011696	0.000000	0.000000	0.003049	0.003788	0.02632	1864.33	94	chr5	5464420	.	C	A	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.499;DP=1291;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.283;SOR=0.643	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	375.29	36	chr5	7862999	.	T	TA	375.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.319;SOR=0.836	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	18	0	1	0
chr5	7873442	7873442	G	A	exonic	MTRR	.	nonsynonymous SNV	MTRR:NM_001364440:exon3:c.G199A:p.D67N,MTRR:NM_001364441:exon3:c.G199A:p.D67N,MTRR:NM_001364442:exon3:c.G199A:p.D67N,MTRR:NM_002454:exon3:c.G199A:p.D67N,MTRR:NM_024010:exon3:c.G199A:p.D67N	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.0424712301691	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs761784045	1.3e-05	1.3e-05	1.361e-05	1.238e-05	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	1.159e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.046413	1	0.81001	D	3.435	0.92070	M	-0.05	0.63403	T	-3.69	0.78135	D	0.664	0.67304	0.135	0.84794	D	0.518	0.81975	D	10	0.70421314	0.72634	D	0.042471	0.60483	D	0.452	0.75211	0.56	0.67958	0.865406547505	0.86410	0.7834604532934296	0.78297	0.311889514168	0.33491	0.556776165962	0.46812	T	.	.	.	0.00443075	0.52264	T	-0.231412	0.51636	T	0.974632637438591	0.70591	D	0.962304	0.86183	D	0.5303346	0.68849	0.44441906	0.67624	0.5303346	0.68850	0.44441906	0.67624	-8.98	0.67903	D	0.6542797482986111	0.72688	0.118	0.48469	B	.;.;.;.	.;.;.;.	5.405288	0.90499	31	0.99925795888838642	0.99042	0.98369	0.82077	D	AEFDGBIJ	0.890464	0.82553	D	0.949003593191699	0.93946	12.38899	0.902348182254986	0.95674	13.85265	0.999999999999997	0.74766	0.706298	0.61202	0	0.516746	0.08562	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	8.080000	0.89319	11.661000	0.93987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.773	0.96375	740	0.53092	Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1396.33	33	chr5	7873442	.	G	A	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.87;DP=766;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.612;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	18	0	1	0
chr5	7875345	7875345	A	G	exonic	MTRR	.	nonsynonymous SNV	MTRR:NM_001364440:exon4:c.A371G:p.Y124C,MTRR:NM_001364441:exon4:c.A371G:p.Y124C,MTRR:NM_001364442:exon4:c.A371G:p.Y124C,MTRR:NM_002454:exon4:c.A371G:p.Y124C,MTRR:NM_024010:exon4:c.A371G:p.Y124C	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	300403	Disorders_of_Intracellular_Cobalamin_Metabolism	MedGen:CN043592	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0314228635239	7.7e-05	.	7.413e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200047657	6.912e-05	6.977e-05	6.946e-05	6.878e-05	3.959e-05	5.782e-05	5.394e-05	3e-05	2.672e-05	0	0	0.0020	0	0	0	3.959e-05	4.969e-05	1.16e-05	3.943e-05	3.94e-05	2.569e-05	5.381e-05	2.939e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.939e-05	0	0	0.054	0.45393	T	0.05	0.48080	T	.	.	.	.	.	.	0.000001	0.62929	N	0.059077	1	0.81001	D	1.555	0.39373	L	0.28	0.59037	T	-6.79	0.96608	D	0.507	0.53884	-0.8706	0.50484	T	0.180	0.52705	T	10	0.15305188	0.28898	T	0.031423	0.53513	D	0.265	0.57870	.	.	0.840623192393	0.83909	0.8245048287168373	0.82408	0.0748916050425	0.08402	0.645190477371	0.59301	T	.	.	.	-0.0992657	0.36546	T	-0.223999	0.52351	T	0.238492757966195	0.22349	T	0.894511	0.63379	D	0.47664332	0.65696	0.3523847	0.60817	0.47664332	0.65696	0.3523847	0.60817	-9.787	0.72626	D	0.39084048093013823	0.48405	0.201	0.42506	B	.;.;.	.;.;.	3.664345	0.52068	23.2	0.99078514698250619	0.51906	0.96456	0.69229	D	AEFBI	0.636375	0.61555	D	0.0935750930633476	0.46162	2.860973	0.189193583193764	0.49252	3.130809	0.999997416818978	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.21	0.48984	4.973000	0.63479	6.072000	0.53266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8553:0.0:0.1447:0.0	9.37	0.37410	744	0.52588	Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	33	chr5	7875345	.	A	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=729;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.08;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr5	10258229	10258229	G	A	exonic	CCT5	.	nonsynonymous SNV	CCT5:NM_001306154:exon4:c.G484A:p.G162S,CCT5:NM_001306155:exon4:c.G370A:p.G124S,CCT5:NM_001306153:exon5:c.G586A:p.G196S,CCT5:NM_001306156:exon5:c.G535A:p.G179S,CCT5:NM_012073:exon5:c.G649A:p.G217S	Neuropathy, hereditary sensory, with spastic paraplegia, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	923625	Hereditary_sensory_and_autonomic_neuropathy_with_spastic_paraplegia	MONDO:MONDO:0009748,MedGen:C1850395,OMIM:256840,Orphanet:139578	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.928	0.0604504809643	0.0002	0.000399361	0.0003	0	0	0	0.0002	4.496e-05	0	0.0020	0.0002523	39	154602	rs201804455	0.0001	0.0001	6.942e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0.0002	0	0.0001	0	2.338e-05	9.934e-05	0.0016	7.879e-05	7.874e-05	5.14e-05	0.0001	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	0	0	0	0	0	0.0003	0.0034	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.98	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.375	0.91388	M	-1.51	0.81399	D	-5.64	0.86914	D	0.787	0.80375	0.733	0.93583	D	0.764	0.91981	D	10	0.35645252	0.52384	T	0.06045	0.68006	D	0.928	0.98267	.	.	0.893530092694	0.89248	0.8243890694011388	0.82396	0.906306764254	0.70861	0.706900477409	0.68144	T	0.764588	0.93650	D	0.129022	0.67266	D	0.399324	0.92090	D	0.403197222780659	0.29063	T	0.886711	0.61533	D	0.89484787	0.90927	0.84683836	0.91292	0.89484787	0.90928	0.84683836	0.91293	-11.906	0.84389	D	0.6201566857737855	0.68845	0.595	0.68682	P	.;.;.;.;.	.;.;.;.;.	4.962232	0.82058	27.7	0.99879202384543442	0.95572	0.97493	0.75105	D	AEFDGBHCI	0.964678	0.98685	D	1.00917930470819	0.96020	14.21337	0.939397351013411	0.97072	15.54843	1.0	0.98316	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	9.544000	0.97191	11.808000	0.96852	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.678	0.91497	824	0.40336	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1836.33	33	chr5	10258229	.	G	A	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=801;ExcessHet=0;FS=2.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.394;SOR=0.956	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	11385163	11385165	GCG	-	exonic	CTNND2	.	nonframeshift deletion	CTNND2:NM_001288715:exon6:c.404_406del:p.P135del,CTNND2:NM_001332:exon7:c.677_679del:p.P226del	.	75	1424	11	2	10	25	0.00523926	.	.	.	1309249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs899866060	0.0007	0.0050	0.0006	0.0009	0.0065	0.0007	0.0007	0.0048	0.0042	0.0010	0.0044	0.0017	0.0065	0.0091	0.0011	0.0006	0.0008	0.0010	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	4.942e-05	0	0.0003	0	0.0002	0.0001	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	152.03	15	chr5	11385162	.	CGCG	C	152.03	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.28;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=0.1984;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=30.41;ReadPosRankSum=1.28;SOR=1.981	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,477	17	0	1	1
chr5	13708175	13708175	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon76:c.G13286A:p.R4429Q	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1521	1	0	0	1	0.000328623	.	.	YES	239720	not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	.	0.0145767	0.0048	0.0002	8.637e-05	0.0374	0	1.498e-05	0.0022	0.0156	0.0045342	701	154602	rs61744047	0.0028	0.0028	0.0025	0.0032	0.0650	0.0027	0.0027	0.0629	0.0620	0.0002	0.0001	0	0.0650	0	0.0007	3.957e-05	0.0043	0.0139	0.0025	0.0025	0.0022	0.0028	0.0532	0.0023	0.0022	0.0480	0.0460	0.0003	0	0.0001	0	0.0532	0	0	2.94e-05	0.0043	0.0160	0.059	0.37536	T	.	.	.	0.403	0.34918	B	0.136	0.33270	B	0.000012	0.62929	D	0.063133	0.999997	0.58761	D	1.16	0.29674	L	2.99	0.09262	T	-3.71	0.70674	D	0.245	0.27673	-1.0772	0.07901	T	0.007	0.02598	T	10	0.004851371	0.00103	T	.	.	.	0.165	0.42395	.	.	0.460352466543	0.45661	0.6939686559687946	0.69337	0.304278428197	0.32738	0.371867269278	0.21099	T	0.292972	0.66568	T	-0.634641	0.00090	T	-0.613214	0.11725	T	0.0740065121336793	0.09202	T	0.952205	0.81731	D	0.33127418	0.55575	0.26494122	0.52321	0.33127418	0.55575	0.26494122	0.52320	-6.38	0.49353	T	0.2264646798833387	0.30606	0.129	0.27553	B	.	.	2.544298	0.32919	19.19	0.99811163669055092	0.89531	0.98484	0.83265	D	AEFBI	0.690343	0.65071	D	0.0708524088401553	0.45107	2.772815	0.146882943324375	0.46978	2.935029	0.999999999759286	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	4.22	0.49153	4.933000	0.63185	3.299000	0.37367	0.599000	0.40250	0.989000	0.36753	0.996000	0.32793	0.973000	0.55318	0.0:0.9261:0.0:0.0739	13.996	0.63917	811	0.42639	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	918.33	34	chr5	13708175	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=695;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.64;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	18	0	1	0
chr5	13718909	13718909	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon72:c.C12472T:p.R4158W	Ciliary dyskinesia, primary, 3, with or without situs inversus	3	1518	1	0	0	1	0.000329272	.	.	.	239723	not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	7.7e-05	0.0129792	0.0042	0.0002	0	0.0351	0	4.496e-05	0.0011	0.0123	0.0039974	618	154602	rs3756672	0.0022	0.0022	0.0019	0.0025	0.0475	0.0022	0.0021	0.0457	0.0450	0.0001	6.708e-05	0.0006	0.0475	0	0.0005	4.138e-05	0.0038	0.0123	0.0022	0.0022	0.0019	0.0025	0.0465	0.0020	0.0019	0.0417	0.0398	0.0002	0	0.0001	0.0009	0.0465	0	0	4.41e-05	0.0043	0.0143	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.061993	0.998206	0.44627	D	3.51	0.92865	H	2.99	0.09262	T	-6.42	0.91268	D	0.658	0.66787	-1.0708	0.09238	T	0.039	0.16892	T	10	0.012498289	0.00268	T	.	.	.	0.316	0.63799	.	.	0.585991418203	0.58272	0.8221156781767636	0.82168	0.449518881182	0.44739	0.535598218441	0.43824	T	0.470007	0.80330	T	-0.389344	0.02717	T	-0.282576	0.46539	T	0.145012849414531	0.16699	T	0.998009	0.99105	D	0.8367939	0.86380	0.8616253	0.92290	0.8367939	0.86381	0.8616253	0.92290	-11.268	0.81108	D	0.2582040056933206	0.34887	0.481	0.63712	A	.	.	4.931290	0.81297	27.5	0.99908310520359023	0.97875	0.96399	0.68947	D	AEFI	0.844126	0.76110	D	0.58883151624711	0.72476	5.811901	0.498288694468566	0.67876	5.143127	0.128981341113728	0.17051	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	3.84	0.43422	3.883000	0.55880	5.548000	0.48886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0904:0.0:0.5403:0.3693	6.896	0.23439	806	0.43582	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	830.33	33	chr5	13718909	.	G	A	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.599;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.68;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1197	18	0	1	0
chr5	13864513	13864513	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon28:c.C4480T:p.R1494W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1517	4	1	0	6	0.00197368	.	.	.	521035	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.568	0.0997423386215	.	0.000199681	0.0001	0	0.0002	0	0	1.499e-05	0	0.0008	0.0001164	18	154602	rs535366955	9.44e-05	9.44e-05	5.581e-05	0.0001	0.0012	8.134e-05	7.65e-05	0.0010	0.0009	0	0	0	2.519e-05	1.872e-05	0.0012	1.619e-05	0.0001	0.0012	6.575e-05	6.565e-05	5.145e-05	8.07e-05	0.0012	3.519e-05	2.618e-05	0.0005	0.0004	4.821e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0012	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.928957	0.36911	D	4.545	0.99110	H	-0.27	0.67367	T	-7.2	0.94223	D	0.866	0.86297	0.546	0.91177	D	0.627	0.86895	D	10	0.8989341	0.89252	D	0.099742	0.77157	D	0.568	0.82403	0.849	0.95143	0.800318515168	0.79845	0.8902563679122448	0.88995	0.449518881182	0.44739	0.640836238861	0.58682	T	0.866681	0.97086	D	0.00901795	0.52892	T	0.199644	0.83108	D	0.943406760692596	0.61853	D	0.998284	0.99183	D	0.950225	0.96288	0.9063166	0.95427	0.950225	0.96288	0.9063166	0.95427	-13.284	0.90498	D	0.7686270645114324	0.84982	0.560	0.67225	A	.	.	2.239517	0.28593	17.85	0.99805517978883496	0.88995	0.57738	0.30456	D	AEFI	0.508919	0.53860	D	0.0182761297899954	0.42687	2.576662	-0.291211242179471	0.28387	1.582413	0.128198736578796	0.17035	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	-5.55	0.02336	1.624000	0.36629	0.634000	0.20256	-0.235000	0.07621	0.955000	0.33325	0.376000	0.24592	0.455000	0.28006	0.0:0.0:0.7847:0.2153	21.017	0.99946	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1567.33	33	chr5	13864513	.	G	A	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=755;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.181;SOR=0.53	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,106,1343	18	0	1	0
chr5	13865765	13865765	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon27:c.A4258G:p.N1420D	Ciliary dyskinesia, primary, 3, with or without situs inversus	3	1510	8	1	0	10	0.00330033	.	.	YES	251750	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0432556220655	7.7e-05	0.00139776	0.0009	0.0002	0.0003	0	0	0.0003	0.0022	0.0047	0.0007438	115	154602	rs201841311	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	5.998e-05	0.0002	3.833e-05	2.523e-05	0	0.0023	0.0002	0.0006	0.0053	0.0003	0.0003	0.0003	0.0004	0.0060	0.0003	0.0002	0.0043	0.0037	0	0	0	0	0	0	0.0102	0.0002	0.0005	0.0060	0.379	0.11227	T	.	.	.	0.005	0.12996	B	0.02	0.19048	B	0.000000	0.84330	D	0.045740	1	0.81001	D	1.455	0.36767	L	0.19	0.60236	T	-3.29	0.65742	D	0.252	0.28498	-0.9249	0.44872	T	0.155	0.48653	T	10	0.0070150793	0.00160	T	0.043256	0.60889	D	0.125	0.34456	.	.	0.663333248432	0.66050	0.5991009772945112	0.59841	0.196928005881	0.22067	0.535254716873	0.43775	T	0.491452	0.81582	T	-0.430938	0.01463	T	-0.391523	0.34372	T	0.0242356835716743	0.01174	T	0.905309	0.66640	D	0.486553	0.66296	0.442763	0.67516	0.486553	0.66297	0.442763	0.67516	-5.55	0.42333	T	0.2316409542714556	0.31348	0.163	0.35931	B	.	.	2.868385	0.37918	20.6	0.99324492742501602	0.59507	0.96846	0.71256	D	AEFI	0.704140	0.65995	D	-0.0866129141540228	0.37978	2.217524	0.124592617311679	0.45810	2.837629	0.999999966683134	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	3.535000	0.53331	6.166000	0.54416	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.328	0.82823	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1000.33	33	chr5	13865765	.	T	C	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.795;DP=798;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.645;SOR=1.014	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1014,0,1115	18	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.02632	4478.33	33	chr5	13900212	.	G	T	4478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1173;ExcessHet=0;FS=0.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.808;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1377	18	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397101	.	T	C	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.867;DP=768;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.18;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,103,1309:.	17	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397102	.	G	A	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.791;DP=779;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.132;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,103,1309:.	17	0	2	0
chr5	14476917	14476917	A	G	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon41:c.A6107G:p.K2036R	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3193011	Inborn_genetic_diseases|TRIO-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0209529946029	0.0002	.	2.506e-05	0	0	0	0	3.041e-05	0	6.118e-05	1.94e-05	3	154602	rs143747764	3.421e-05	3.42e-05	2.723e-05	4.126e-05	0.0001	2.631e-05	2.375e-05	5.397e-05	4.043e-05	0	0	0	0	0	0	3.327e-05	6.624e-05	0.0001	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.144	0.25255	T	0.379	0.25670	T	0.006	0.13644	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999819	0.49394	D	0.795	0.19620	N	-0.11	0.64445	T	-1.58	0.38151	N	0.323	0.43126	-0.8820	0.49601	T	0.176	0.52115	T	10	0.34143007	0.51193	T	0.020953	0.43640	T	0.169	0.43123	.	.	0.425367727682	0.42151	0.2568783080951126	0.25601	0.800755203525	0.66237	0.853492677212	0.90141	D	0.094839	0.39497	T	-0.122984	0.32636	T	-0.232906	0.51490	T	0.351448386907578	0.27076	T	0.914909	0.69682	D	0.26363796	0.49429	0.25357372	0.51007	0.26363796	0.49429	0.25357372	0.51006	-4.873	0.35430	T	.	.	0.093	0.13876	B	.;.;.;.	.;.;.;.	4.375166	0.67387	25.1	0.99885884336944764	0.96126	0.91870	0.54441	D	ALL	0.919851	0.89096	D	0.0606971200610804	0.44635	2.734031	0.245305829275071	0.52383	3.413449	0.99999999999993	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.39	5.39	0.77615	7.563000	0.81293	9.336000	0.80174	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9239:0.0:0.0761:0.0	9.868	0.40326	804	0.43891	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	820.33	36	chr5	14476917	.	A	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.631;DP=740;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.808;SOR=0.477	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr5	14487504	14487504	-	GGC	exonic	TRIO	.	nonframeshift insertion	TRIO:NM_007118:exon48:c.6876_6877insGGC:p.G2298_S2299insG	Mental retardation, autosomal dominant 44, Autosomal dominant	6	1505	8	3	0	14	0.00462963	.	.	.	709701	not_provided|Micrognathia-recurrent_infections-behavioral_abnormalities-mild_intellectual_disability_syndrome|Intellectual_developmental_disorder,_autosomal_dominant_63,_with_macrocephaly|Inborn_genetic_diseases|TRIO-related_disorder	MedGen:C3661900|MONDO:MONDO:0014892,MedGen:C4310740,OMIM:617061,Orphanet:476126|MONDO:MONDO:0032939,MedGen:C5394205,OMIM:618825|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0008	0.0002	0.0004	0.0066	0	0.0002	0	0.0004	0.0005627	87	154602	rs773658015	0.0005	0.0004	0.0005	0.0004	0.0046	0.0004	0.0004	0.0036	0.0032	0.0002	0.0005	0.0015	0.0046	4.747e-05	0.0021	0.0004	0.0009	0.0006	0.0009	0.0009	0.0008	0.0009	0.0068	0.0007	0.0007	0.0050	0.0044	0.0004	0	0.0015	0.0029	0.0068	0	0	0.0006	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	657.29	33	chr5	14487504	.	G	GGGC	657.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-1.053;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr5	14751196	14751196	C	T	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon5:c.G560A:p.R187Q	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	0	1513	8	1	0	10	0.00329381	.	.	.	301621	ANKH-related_disorder|not_provided|Chondrocalcinosis_2|not_specified|Craniometaphyseal_dysplasia,_autosomal_dominant	.|MedGen:C3661900|MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416|MedGen:CN169374|MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.308	0.108883188274	0.0056	0.00179712	0.0031	0.0009	0.0007	0	0.0005	0.0048	0.0044	0.0022	0.0033958	525	154602	rs146886108	0.0054	0.0054	0.0055	0.0053	0.0065	0.0053	0.0052	0.0064	0.0064	0.0008	0.0013	7.652e-05	7.557e-05	0.0005	0.0028	0.0065	0.0047	0.0021	0.0033	0.0033	0.0037	0.0029	0.0059	0.0031	0.0030	0.0054	0.0052	0.0011	0.0022	0.0028	0	0	0.0002	0	0.0059	0.0019	0.0019	0.796	0.03150	T	0.627	0.07267	T	0.811	0.45403	P	0.238	0.38539	B	0.000033	0.55875	D	0.159419	0.938045	0.81001	D	0	0.06538	N	-3.45	0.94469	D	0.38	0.03579	N	0.335	0.37613	-0.0804	0.80545	T	0.421	0.76603	T	10	0.013764143	0.00291	T	0.108883	0.78561	D	0.308	0.62947	.	.	0.852315435993	0.85089	0.2346333226589455	0.23378	1.02054565552	0.75098	0.462013542652	0.33587	T	0.40559	0.76172	T	-0.284642	0.10181	T	-0.173683	0.57105	T	0.0222127914652502	0.00933	T	0.857914	0.54791	D	0.047855694	0.08248	0.04917899	0.07460	0.047855694	0.08247	0.04917899	0.07460	-3.772	0.20387	T	0.08777392143704406	0.05193	0.071	0.04002	B	.	.	2.796443	0.36774	20.3	0.92613854909939697	0.22080	0.77807	0.38300	D	AEFDBI	0.159931	0.28580	N	-0.354397850382536	0.27111	1.484849	-0.196141527609113	0.31677	1.795026	0.999990766592323	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	4.65	0.57626	2.163000	0.42004	4.798000	0.44948	-0.172000	0.11096	0.888000	0.31154	1.000000	0.68203	0.989000	0.64315	0.0:0.9266:0.0:0.0734	13.739	0.62322	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002022	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	3067.83	33	chr5	14751196	.	C	T	3067.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.91;DP=840;ExcessHet=0.119;FS=5.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.746;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	17	0	2	0
chr5	16481072	16481072	C	T	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon3:c.G184A:p.V62M,RETREG1:NM_001034850:exon5:c.G607A:p.V203M	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	1	1502	19	0	0	19	0.00628515	.	.	.	244479	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2B	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.170	.	0.0033	0.00159744	0.0033	0.0009	0.0051	0	0.0018	0.0042	0.0045	0.0023	0.0034411	532	154602	rs143878016	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0046	0.0054	0.0053	0.0008	0.0032	0.0004	0	0.0031	0.0024	0.0055	0.0045	0.0029	0.0030	0.0030	0.0031	0.0028	0.0050	0.0027	0.0027	0.0045	0.0044	0.0007	0	0.0033	0.0006	0	0.0015	0.0034	0.0050	0.0019	0.0027	0.066	0.36113	T	0.109	0.37449	T	0.996	0.77913	D	0.923	0.75168	D	0.000098	0.51296	D	0.135280	0.963721	0.38365	D	.	.	.	0.74	0.50459	T	-1.19	0.30346	N	0.267	0.30233	-0.7685	0.56940	T	0.178	0.52412	T	10	0.011584997	0.00253	T	.	.	.	0.170	0.43303	.	.	0.472023113445	0.46832	0.4008687952848419	0.40001	1.01671924767	0.74975	0.599503755569	0.52834	T	0.022619	0.17407	T	-0.518749	0.00447	T	-0.514616	0.20843	T	0.0150975185188845	0.00327	T	0.919808	0.70989	D	0.12491093	0.29296	0.14568304	0.34542	0.14728221	0.33676	0.16377048	0.37972	-7.131	0.54984	T	0.3694394751555748	0.46511	0.132	0.36455	B	.;.	.;.	3.980073	0.58499	24.0	0.99853363774972514	0.93279	0.31720	0.24408	N	AEFDGBI	0.162037	0.28817	N	0.229326786743082	0.52624	3.435491	0.225926690679091	0.51292	3.312884	0.999990147161625	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.95	5.08	0.68373	0.214000	0.17331	4.055000	0.41540	0.599000	0.40250	0.097000	0.22731	0.999000	0.35428	0.997000	0.79791	0.0:0.8662:0.0:0.1338	12.951	0.57797	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	913.33	40	chr5	16481072	.	C	T	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.481;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.503;SOR=0.693	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr5	16616940	16616940	T	C	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_001034850:exon1:c.A32G:p.E11G	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	20	1498	4	0	0	4	0.00133333	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0276599936062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290549319	9.929e-06	1.094e-05	3.009e-06	1.707e-05	0.0003	5.54e-06	4.27e-06	4.67e-06	1.79e-06	0	0	4.393e-05	0	0	0.0003	6.704e-06	3.694e-05	2.817e-05	1.318e-05	1.314e-05	1.289e-05	1.35e-05	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	0.201	0.20306	T	0.102	0.38450	T	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.3	0.11913	N	0.088	0.06587	-1.0432	0.16354	T	0.057	0.24055	T	9	0.042771906	0.03059	T	0.02766	0.50443	D	0.031	0.07369	0.138	0.04187	0.222439326576	0.21863	0.21468380341539833	0.21384	0.383060986357	0.39643	0.721532702446	0.70270	T	0.005569	0.05022	T	-0.349628	0.04750	T	-0.739993	0.03891	T	0.0271434536664232	0.01564	T	0.337066	0.07215	T	0.044057857	0.06977	0.14761849	0.34926	0.044057857	0.06977	0.14761849	0.34926	-3.994	0.23714	T	.	.	0.079	0.07177	B	.	.	1.092366	0.14763	11.30	0.60093642355988997	0.06380	0.01560	0.05104	N	ALL	0.036618	0.04908	N	-1.8876281065581	0.00364	0.01564063	-1.98505600893343	0.00329	0.01453772	0.999999999929318	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	2.96	-5.93	0.02067	-1.285000	0.02899	-1.435000	0.05446	-0.243000	0.07376	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.643:0.357	12.711	0.56462	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	63.33	30	chr5	16616940	.	T	C	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=0.797;SOR=0.193	GT:AD:DP:GQ:PL	0/0:17,0:17:42:0,42,630	18	0	1	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.05263	2988.83	43	chr5	16701687	.	A	G	2988.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.248;DP=886;ExcessHet=0.119;FS=0.514;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.206;SOR=0.628	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr5	17655153	17655153	C	T	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G386A:p.R129H	.	933	584	5	0	0	5	0.00426257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0058399	152	26028	rs139670564	0.0078	0.0062	0.0075	0.0080	0.0101	0.0075	0.0074	0.0082	0.0080	0.0008	0.0059	0.0041	0	0.0141	0.0101	0.0085	0.0053	0.0100	0.0058	0.0058	0.0058	0.0058	0.0115	0.0055	0.0053	0.0091	0.0082	0.0007	0	0.0036	0.0014	0	0.0146	0.0068	0.0083	0.0052	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011746377	0.00255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923508	0.72088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49769	B	.	.	1.646546	0.21009	15.01	0.89699310346711458	0.19023	0.51438	0.28895	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.0413807614660387	0.14481	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.103547	0.22722	0.547	-0.473	0.11508	4.108000	0.57555	-0.502000	0.08796	-0.251000	0.07141	1.000000	0.71638	0.002000	0.18203	0.053000	0.15439	0.3309:0.669:0.0:0.0	5.332	0.15246	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	442.83	33	chr5	17655153	.	C	T	442.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=486;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.49;MQRankSum=0.402;QD=9.42;ReadPosRankSum=-0.485;SOR=1.029	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,845	17	0	2	0
chr5	19571795	19571795	T	G	exonic	CDH18	.	nonsynonymous SNV	CDH18:NM_001167667:exon8:c.A1037C:p.N346T,CDH18:NM_001291957:exon8:c.A1037C:p.N346T,CDH18:NM_001349559:exon8:c.A1037C:p.N346T,CDH18:NM_001349560:exon8:c.A1037C:p.N346T,CDH18:NM_001349561:exon8:c.A1037C:p.N346T,CDH18:NM_004934:exon8:c.A1037C:p.N346T,CDH18:NM_001349556:exon9:c.A1037C:p.N346T,CDH18:NM_001349562:exon9:c.A368C:p.N123T,CDH18:NM_001349563:exon9:c.A368C:p.N123T,CDH18:NM_001291956:exon10:c.A1037C:p.N346T,CDH18:NM_001349558:exon11:c.A1037C:p.N346T	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00808449363578	0.0007	.	0.0006	0.0002	8.655e-05	0	0.0002	0.0009	0	0.0004	0.0005498	85	154602	rs150989071	0.0006	0.0006	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	0.0003	0.0005	0.0065	2.52e-05	0.0001	0.0035	0.0005	0.0011	0.0006	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0005	0.0007	0.0005	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0006	0.0014	0.0015	0.083	0.35918	T	0.202	0.27414	T	0.027	0.19556	B	0.038	0.23361	B	0.000002	0.62929	N	0.099811	0.998287	0.44722	D	-0.585	0.02270	N	0.89	0.45636	T	-1.63	0.39119	N	0.181	0.26596	-1.0940	0.04899	T	0.051	0.21844	T	9	0.014262378	0.00300	T	0.008084	0.21418	T	0.040	0.10527	.	.	0.602933245068	0.59976	0.2640124338119328	0.26314	0.127789886917	0.14414	0.653760254383	0.60520	T	0.071764	0.34288	T	-0.454016	0.01069	T	-0.532455	0.19043	T	0.280897378921509	0.24209	T	0.718928	0.33194	T	0.12301191	0.28893	0.15382247	0.36129	0.12301191	0.28893	0.15382247	0.36128	-6.571	0.51705	T	.	.	0.091	0.28290	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857260	0.37744	20.6	0.98749338834504785	0.45633	0.91655	0.53983	D	AEFI	0.548506	0.56176	D	-0.325614555395689	0.28179	1.552092	-0.114986403952836	0.34785	2.004899	0.0767323530381463	0.15737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.17	4.01	0.45821	2.671000	0.46507	4.312000	0.42972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.163:0.837	11.304	0.48559	894	0.26265	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.002924	0.000000	0.008621	0.003067	0.000000	0.05263	2987.83	125	chr5	19571795	.	T	G	2987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.873;DP=832;ExcessHet=0.119;FS=4.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.58;SOR=0.427	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1175	17	0	2	0
chr5	23527321	23527321	G	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.G2233A:p.E745K,PRDM9:NM_001376900:exon11:c.G2233A:p.E745K,PRDM9:NM_020227:exon11:c.G2233A:p.E745K	.	456	1043	21	2	0	25	0.0118427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.00977339509489	0.0017	0.00159744	0.0029	0.0003	0.0011	0	0.0015	0.0034	0.0078	0.0058	0.0024644	381	154602	rs200775234	0.0011	0.0011	0.0009	0.0013	0.0043	0.0010	0.0010	0.0029	0.0026	0.0003	0.0009	0.0012	0	0.0022	0.0043	0.0009	0.0016	0.0030	0.0014	0.0012	0.0013	0.0015	0.0026	0.0012	0.0011	0.0019	0.0017	0.0004	0	0.0003	0.0015	0	0.0008	0	0.0022	0	0.0026	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.998	0.44873	D	1.33	0.33268	L	1.86	0.24285	T	-2.95	0.61580	D	0.26	0.29429	-0.9912	0.32295	T	0.109	0.39486	T	9	0.0102799535	0.00229	T	0.009773	0.25495	T	0.147	0.38986	.	.	0.343101102393	0.33919	0.032077077140900793	0.03155	0.612812136112	0.55868	0.547179818153	0.45459	T	0.318052	0.68946	T	-0.429581	0.01491	T	-0.458662	0.26745	T	0.0573300883913925	0.06742	T	0.721828	0.33531	T	0.55868036	0.70436	0.5460424	0.73759	0.55868036	0.70437	0.5460424	0.73759	-9.071	0.68152	D	.	.	0.690	0.72532	P	.	.	3.400971	0.47136	22.4	0.99897617663845151	0.97048	0.88135	0.47931	D	AEFGBI	0.319231	0.42269	N	0.279155056986675	0.55093	3.673641	0.167347014552524	0.48069	3.02787	0.999764070348671	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	3.324000	0.51734	0.521000	0.19165	0.593000	0.32247	1.000000	0.71638	0.003000	0.18671	0.448000	0.27851	0.0:0.0:1.0:0.0	12.163	0.53420	984	0.02857	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006878	0.000000	0.002717	0.008197	0.000000	0.008621	0.015244	0.015152	0.02632	2563.33	162	chr5	23527321	.	G	A	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=3115;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.73;MQRankSum=2.14;QD=11.1;ReadPosRankSum=-1.187;SOR=0.618	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	18	0	1	0
chr5	23527530	23527530	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2442A:p.S814R,PRDM9:NM_001376900:exon11:c.C2442A:p.S814R,PRDM9:NM_020227:exon11:c.C2442A:p.S814R	.	430	1016	30	0	46	76	0.014549	.	.	.	3547295	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0025946380223	.	.	0.0006	0.0051	0.0004	0.0004	0	0.0003	0.0023	0.0002	.	.	.	rs1445421439	0.0005	0.0022	0.0005	0.0004	0.0067	0.0004	0.0004	0.0060	0.0057	0.0067	0.0011	0.0012	0.0019	3.795e-05	0.0017	0.0002	0.0012	0.0003	5.517e-05	0.0002	5.382e-05	5.658e-05	7.335e-05	2.379e-05	1.6e-05	2.411e-05	1.452e-05	4.091e-05	0	0	0.0003	0	0	0	7.335e-05	0	0	0.292	0.14894	T	0.272	0.22223	T	0.793	0.44725	P	0.246	0.38861	B	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.2	0.37405	T	-1.35	0.33598	N	0.116	0.10483	-1.0778	0.07781	T	0.043	0.18618	T	9	0.007636249	0.00173	T	0.002595	0.05235	T	0.028	0.06331	0.588	0.71623	0.0846915920261	0.08053	0.01985173112782321	0.01938	0.374703731158	0.38933	0.659872531891	0.61391	T	0.040852	0.25665	T	-0.347385	0.04893	T	-0.736771	0.04028	T	0.154884204268456	0.17485	T	0.0363964	0.00252	T	0.16016729	0.35940	0.08991091	0.21054	0.16016729	0.35939	0.08991091	0.21053	-2.79	0.08092	T	.	.	0.506	0.64857	A	.	.	-1.100849	0.00639	0.017	0.76626361170929536	0.11544	0.00595	0.02663	N	AEFDGBI	0.020734	0.00849	N	-1.13317599197083	0.06061	0.2780208	-1.37209568360649	0.03552	0.1659261	0.788608699109344	0.23974	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.261000	0.00051	-20.000000	0.00162	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3934:0.2122:0.0:0.3944	4.061	0.09317	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017970	0.005051	0.019022	0.004098	0.050000	0.051724	0.018293	0.015152	0.05263	2286.83	162	chr5	23527530	.	C	A	2286.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.216;DP=3320;ExcessHet=0.119;FS=19.49;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.06;MQRankSum=1.2;QD=6.48;ReadPosRankSum=1.85;SOR=3.907	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	17	0	2	0
chr5	23527531	23527531	A	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A2443G:p.N815D,PRDM9:NM_001376900:exon11:c.A2443G:p.N815D,PRDM9:NM_020227:exon11:c.A2443G:p.N815D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000610510653665	.	.	0.0007	0.0083	0.0004	0.0004	0	0.0003	0.0012	0.0002	0.0004851	75	154602	rs202203985	0.0001	0.0016	0.0001	9.829e-05	0.0024	8.811e-05	8.224e-05	0.0019	0.0017	0.0024	0.0002	0.0001	3.083e-05	6.109e-05	0.0004	4.031e-05	0.0002	0.0003	0.0002	0.0007	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0004	0	0.0002	0.0004	0	0	0	0.0003	0	0	0.17	0.22833	T	0.298	0.20486	T	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	2.05	0.20664	T	0.28	0.04233	N	0.041	0.01421	-1.0361	0.18513	T	0.032	0.13767	T	9	0.004351616	0.00088	T	6.11E-4	0.00289	T	0.040	0.10527	.	.	0.151104730317	0.14643	0.016712596279843173	0.01626	0.13996330157	0.15771	0.590891361237	0.51620	T	0.023753	0.18078	T	-0.436577	0.01355	T	-0.864889	0.00792	T	0.041924249380827	0.04041	T	0.00864199	0.00041	T	0.09816201	0.23149	0.06937948	0.14611	0.09816201	0.23149	0.06937948	0.14611	-1.368	0.01514	T	.	.	0.337	0.55692	B	.	.	-1.517119	0.00284	0.005	0.56675825690069459	0.05603	0.00145	0.00883	N	AEFDGBI	0.014849	0.00254	N	-2.58568011577053	0.00010	0.000438747	-2.73221310855866	0.00006	0.0002938632	0.938105425917875	0.27328	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.02	-6.05	0.01988	-7.997000	0.00034	-20.000000	0.00162	-1.646000	0.00832	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.093:0.115:0.5628:0.2292	7.125	0.24643	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	301.3	162	chr5	23527531	.	A	G	301.3	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.147;DP=3280;ExcessHet=0.119;FS=17.851;InbreedingCoeff=-0.0765;MLEAC=2;MLEAF=0.056;MQ=52.07;MQRankSum=1.63;QD=0.92;ReadPosRankSum=3.11;SOR=2.654	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	16	0	2	1
chr5	23527541	23527541	-	GTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	exonic	PRDM9	.	stopgain	PRDM9:NM_001310214:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_001376900:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22,PRDM9:NM_020227:exon11:c.2453_2454insGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT:p.H818Qfs*22	.	434	1018	45	0	25	70	0.0216242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.805e-05	0	0	0	0	1.623e-05	0.0012	6.796e-05	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.375e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1387.54	162	chr5	23527541	.	A	AGTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGT	1387.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.644;DP=3208;ExcessHet=0.119;FS=16.541;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=51.81;MQRankSum=1.21;QD=3.81;ReadPosRankSum=2.53;SOR=3.604	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	16	0	2	1
chr5	24537491	24537491	G	C	exonic	CDH10	.	nonsynonymous SNV	CDH10:NM_001317224:exon3:c.C415G:p.P139A,CDH10:NM_001362460:exon3:c.C415G:p.P139A,CDH10:NM_006727:exon3:c.C415G:p.P139A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0126616123945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.322	0.19016	T	0.113	0.26349	B	0.089	0.29769	B	0.000007	0.62929	D	0.107767	0.994282	0.42226	D	1.345	0.33447	L	0.51	0.55439	T	-5.6	0.86608	D	0.237	0.26717	-0.9879	0.33126	T	0.132	0.44406	T	10	0.24970314	0.42286	T	0.012662	0.31427	T	0.171	0.43483	0.467	0.53891	0.657421573829	0.65455	0.3352004469086272	0.33433	1.21055628116	0.80829	0.684688329697	0.64942	T	0.216898	0.57919	T	-0.0909905	0.37913	T	-0.368478	0.37066	T	0.971937298774719	0.69505	D	0.874613	0.58533	D	0.29825673	0.52748	0.3812111	0.63135	0.29825673	0.52747	0.3812111	0.63135	-5.656	0.43300	T	.	.	0.125	0.26388	B	.	.	4.147594	0.62187	24.4	0.98174099968490525	0.38882	0.94283	0.60675	D	AEFI	0.655665	0.62792	D	0.111964081183095	0.47020	2.933682	0.321063892368563	0.56778	3.84183	0.999921944581713	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	5.305000	0.65541	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.080	0.93160	783	0.47268	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1360.33	45	chr5	24537491	.	G	C	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.329;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr5	26885688	26885688	T	C	exonic	CDH9	.	nonsynonymous SNV	CDH9:NM_016279:exon11:c.A1808G:p.E603G	.	436	1056	30	0	0	30	0.0140056	.	.	.	699060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.307	.	0.0052	0.00559105	0.0069	0.0009	0.0049	0.0002	0.0014	0.0083	0.0145	0.0114	0.0066429	1027	154602	rs34490509	0.0070	0.0070	0.0068	0.0073	0.0146	0.0069	0.0069	0.0121	0.0111	0.0007	0.0056	0.0046	7.56e-05	0.0024	0.0146	0.0075	0.0060	0.0115	0.0059	0.0059	0.0057	0.0060	0.0094	0.0055	0.0054	0.0082	0.0080	0.0015	0.0011	0.0094	0.0035	0.0004	0.0018	0.0034	0.0088	0.0081	0.0077	0.045	0.40832	D	0.156	0.31833	T	0.384	0.34453	B	0.451	0.46123	P	0.000079	0.52346	D	0.198141	0.999973	0.53665	D	2.295	0.65404	M	0.39	0.57419	T	-5.79	0.88065	D	0.736	0.73645	-0.7572	0.57556	T	0.181	0.52858	T	9	0.0105982125	0.00235	T	.	.	.	0.307	0.62838	.	.	0.49019323153	0.48651	0.7201756368752278	0.71960	0.604623075721	0.55391	0.440794110298	0.30685	T	0.160275	0.50405	T	-0.316683	0.07173	T	-0.216639	0.53061	T	0.0607416384655104	0.07285	T	0.859214	0.55036	D	0.3318728	0.55624	0.36143115	0.61567	0.3318728	0.55624	0.36143115	0.61567	-9.676	0.71950	D	.	.	0.259	0.49334	B	.	.	3.902883	0.56863	23.8	0.99848921927984158	0.92838	0.98369	0.82077	D	AEFGI	0.949439	0.96208	D	0.24730265959893	0.53504	3.51911	0.262897908325892	0.53386	3.507883	0.99998222151497	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	7.980000	0.87715	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:0.0:0.0:1.0	15.135	0.72233	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.000000	0.010870	0.017544	0.000000	0.008621	0.024390	0.007576	0.02632	969.33	33	chr5	26885688	.	T	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.929;DP=704;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.386;SOR=0.504	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr5	31401532	31401532	C	T	exonic	DROSHA	.	nonsynonymous SNV	DROSHA:NM_001100412:exon35:c.G3914A:p.R1305Q,DROSHA:NM_013235:exon35:c.G4025A:p.R1342Q,DROSHA:NM_001382508:exon36:c.G4025A:p.R1342Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0272123800067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.762e-06	3.42e-06	2.748e-06	2.776e-06	2.715e-06	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	1.895e-05	0	2.715e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.017	0.60972	D	0.681	0.41422	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.29	0.51474	T	-1.82	0.42763	N	0.701	0.74462	-0.9514	0.40730	T	0.105	0.38464	T	10	0.6307953	0.68505	D	0.027212	0.50045	D	0.302	0.62290	0.412	0.44887	0.667616128244	0.66481	0.8803315696035041	0.88001	2.17053411201	0.95497	0.886858582497	0.94864	D	0.268557	0.64069	T	0.0999453	0.64285	D	-0.0942119	0.63843	T	0.986131191253662	0.76932	D	0.990701	0.97129	D	0.68627185	0.77309	0.44616595	0.67740	0.68627185	0.77310	0.44616595	0.67740	-13.248	0.90393	D	.	.	0.951	0.87127	P	.;.;.;.	.;.;.;.	4.691768	0.75187	26.3	0.99942976159712305	0.99848	0.98530	0.83766	D	AEFBI	0.849321	0.76614	D	0.411183419863416	0.62037	4.413199	0.547561973692704	0.71228	5.622893	0.999999999999232	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.281000	0.77985	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.181	0.98202	752	0.51611	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	35	chr5	31401532	.	C	T	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.636;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	18	0	1	0
chr5	31532427	31532427	G	C	exonic	C5orf22	.	nonsynonymous SNV	C5orf22:NM_018356:exon1:c.G35C:p.R12P	.	416	1082	24	0	0	24	0.0109689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0620573029481	0.0051	0.00219649	0.0056	0.0014	0.0026	0	0.0046	0.0074	0.0078	0.0063	0.0056015	866	154602	rs76256365	0.0070	0.0070	0.0069	0.0071	0.0079	0.0069	0.0068	0.0077	0.0077	0.0013	0.0032	0.0049	2.52e-05	0.0051	0.0061	0.0079	0.0056	0.0058	0.0051	0.0051	0.0051	0.0051	0.0084	0.0048	0.0047	0.0078	0.0076	0.0013	0	0.0033	0.0058	0.0002	0.0052	0	0.0084	0.0066	0.0039	0.003	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.050787	0.991333	0.81001	D	3.185	0.88900	M	0.87	0.46412	T	-2.74	0.65283	D	0.797	0.79310	-0.4646	0.69912	T	0.238	0.60535	T	10	0.009045869	0.00205	T	0.062057	0.68530	D	0.357	0.67782	.	.	0.739382427967	0.73704	0.8655327202119925	0.86518	0.60858133722	0.55629	.	.	.	0.088472	0.38165	T	-0.0499964	0.44447	T	0.162372	0.80950	D	0.0460952382670649	0.04800	T	0.748625	0.36937	T	0.7476154	0.80730	0.8569104	0.91970	0.7476154	0.80731	0.8569104	0.91970	-6.675	0.51622	T	.	.	0.772	0.76006	P	.;.	.;.	4.954457	0.81862	27.7	0.99719926348853904	0.81984	0.93541	0.58498	D	ALL	0.833727	0.75190	D	0.734912743438966	0.81922	7.636616	0.634517394254918	0.77462	6.684104	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.14	5.14	0.70008	6.659000	0.74258	11.814000	0.97026	0.676000	0.76740	0.901000	0.31451	1.000000	0.68203	0.305000	0.24618	0.0:0.0:1.0:0.0	16.927	0.86050	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	1422.33	139	chr5	31532427	.	G	C	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.864;DP=941;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.34;SOR=0.667	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr5	31538262	31538262	T	C	exonic	C5orf22	.	nonsynonymous SNV	C5orf22:NM_018356:exon4:c.T380C:p.V127A	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0506532561962	0.0025	0.00119808	0.0025	0.0004	0.0018	0	0.0033	0.0035	0.0012	0.0011	0.0022898	354	154602	rs34357988	0.0027	0.0027	0.0026	0.0027	0.0056	0.0026	0.0026	0.0041	0.0035	0.0007	0.0016	0.0067	0	0.0032	0.0056	0.0028	0.0032	0.0012	0.0023	0.0023	0.0021	0.0024	0.0031	0.0021	0.0020	0.0028	0.0027	0.0005	0.0011	0.0025	0.0078	0	0.0023	0.0102	0.0031	0.0033	0.0017	0.015	0.52492	D	0.045	0.49390	D	0.977	0.58535	D	0.752	0.56092	P	0.000001	0.84330	D	0.054075	1	0.81001	D	3.135	0.88152	M	0.62	0.53302	T	-2.93	0.61284	D	0.802	0.79792	-0.4095	0.71726	T	0.284	0.65626	T	10	0.02188316	0.00533	T	0.050653	0.64333	D	0.439	0.74306	.	.	0.76561432741	0.76347	0.7005987067401199	0.70000	0.510346477881	0.49151	.	.	.	0.146386	0.48397	T	-0.0669081	0.41820	T	0.132068	0.79027	D	0.0262478868912305	0.01440	T	0.79772	0.44184	T	0.32043082	0.54676	0.36911604	0.62188	0.32043082	0.54676	0.36911604	0.62188	-8.998	0.67685	D	.	.	0.730	0.74198	P	.	.	4.571090	0.72120	25.8	0.99870606915433413	0.94815	0.98889	0.88212	D	AEFGBI	0.891944	0.82840	D	0.803151385449374	0.86304	8.842094	0.798602460115176	0.89696	10.083	0.999999999999284	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.428000	0.79479	7.638000	0.63056	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.494	0.84067	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.006793	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	543.33	42	chr5	31538262	.	T	C	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.936;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	32710699	32710699	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001204376:exon1:c.C37T:p.P13S,NPR3:NM_001363652:exon1:c.C37T:p.P13S,NPR3:NM_001364460:exon1:c.C37T:p.P13S	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0430064151345	.	.	7.472e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs749396325	6.026e-05	5.746e-05	5.803e-05	6.256e-05	0.0037	4.974e-05	4.579e-05	0.0025	0.0021	9.569e-05	5.705e-05	0	0	6.235e-05	0.0037	4.271e-05	0.0001	3.84e-05	3.939e-05	3.937e-05	1.285e-05	6.713e-05	0.0002	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.288	0.15098	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.54	0.81640	D	0.88	0.01664	N	0.025	0.02861	-0.9685	0.37510	T	0.189	0.53945	T	9	0.047358423	0.04044	T	0.043006	0.60760	D	0.109	0.30843	0.346	0.34112	0.337621943819	0.33374	.	.	.	.	.	.	.	0.001987	0.01394	T	-0.386612	0.02828	T	-0.567416	0.15687	T	0.0216425377875566	0.00869	T	0.476552	0.14308	T	.	.	.	.	.	.	.	.	-3.286	0.13558	T	.	.	0.093	0.15115	B	.;.	.;.	0.546253	0.09146	5.931	0.91558685825796726	0.20837	0.01434	0.04823	N	ALL	0.063553	0.12288	N	-1.31892207533836	0.03459	0.154541	-1.30599138393156	0.04352	0.2050969	0.999999729916434	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	3.57	0.804	0.17840	-0.437000	0.06984	-0.433000	0.09209	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.4979:0.2488:0.2533	3.871	0.08542	854	0.34840	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	34	chr5	32710699	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=714;ExcessHet=0;FS=6.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.31;ReadPosRankSum=-0.163;SOR=0.259	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1446	18	0	1	0
chr5	32712459	32712459	G	A	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_000908:exon1:c.G683A:p.G228D,NPR3:NM_001204375:exon1:c.G683A:p.G228D	.	413	1105	4	0	0	4	0.00180668	.	.	.	1374374	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0112639280892	.	.	0.0002	0	0.0002	0	0	9.252e-05	0.0012	0.0008	0.0001229	19	154602	rs770169526	9.15e-05	9.235e-05	6.707e-05	0.0001	0.0047	7.868e-05	7.347e-05	0.0033	0.0029	5.988e-05	0.0002	3.889e-05	5.041e-05	0	0.0047	1.622e-05	0.0003	0.0007	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0002	1.715e-05	1.129e-05	.	.	2.412e-05	0	6.539e-05	0	0.0002	0	0.0032	1.47e-05	0	0.0002	0.23	0.19569	T	0.377	0.16522	T	0.307	0.32716	B	0.119	0.32162	B	0.000685	0.42383	D	0.198319	0.955032	0.81001	D	0.55	0.14455	N	1.6	0.28604	T	-0.35	0.12847	N	0.21	0.23380	-1.0899	0.05549	T	0.051	0.21495	T	10	0.050721318	0.04847	T	0.011264	0.28702	T	0.188	0.46444	.	.	0.564243864375	0.56087	0.5443427585139214	0.54360	.	.	0.446150064468	0.31418	T	0.136345	0.46866	T	-0.340947	0.05323	T	-0.356437	0.38466	T	0.0167897811495194	0.00434	T	0.649435	0.26018	T	0.172711	0.37977	0.18611683	0.41765	0.172711	0.37977	0.18611683	0.41764	-3.847	0.21508	T	.	.	0.152	0.33732	B	.;.	.;.	3.030423	0.40590	21.2	0.93716296706300939	0.23636	0.63614	0.32144	D	AEFDGBCIJ	0.157123	0.28258	N	-0.353339261820123	0.27148	1.487268	-0.201119464908883	0.31496	1.783047	0.999998957034114	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.88	4.01	0.45821	2.646000	0.46296	9.954000	0.82748	-0.131000	0.13161	0.997000	0.40164	1.000000	0.68203	0.989000	0.64315	0.084:0.1587:0.7573:0.0	9.091	0.35773	845	0.36510	Receptor, ligand binding region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2120.33	36	chr5	32712459	.	G	A	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=813;ExcessHet=0;FS=7.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.776;SOR=1.251	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1078	18	0	1	0
chr5	33467652	33467652	G	A	exonic	TARS1	.	nonsynonymous SNV	TARS1:NM_152295:exon19:c.G2116A:p.E706K,TARS1:NM_001258437:exon20:c.G2116A:p.E706K,TARS1:NM_001258438:exon20:c.G2215A:p.E739K	.	430	1089	3	0	0	3	0.00137552	.	.	.	3920174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0453396451804	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs551944947	8.552e-05	8.619e-05	4.356e-05	0.0001	0.0013	7.313e-05	6.816e-05	0.0011	0.0010	0	0	0	0	0	0.0002	6.295e-06	6.624e-05	0.0013	4.597e-05	4.594e-05	2.57e-05	6.716e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.221	0.25873	T	0.634	0.07105	T	0.015	0.17086	B	0.009	0.14300	B	0.012977	0.28994	N	0.394944	0.554208	0.31310	N	1.39	0.34934	L	-1.57	0.81900	D	-1.56	0.37759	N	0.184	0.26233	-0.5588	0.66450	T	0.350	0.71423	T	10	0.04053265	0.02629	T	0.04534	0.61931	D	0.190	0.46781	0.488	0.57257	0.76264847454	0.76048	0.3942654465493409	0.39341	0.220874062354	0.24639	0.338948518038	0.16280	T	0.023887	0.18153	T	-0.293008	0.09336	T	-0.234196	0.51364	T	0.0531107604025111	0.06039	T	0.792521	0.43410	T	0.115907915	0.27345	0.13661268	0.32676	0.115907915	0.27345	0.13661268	0.32675	-4.41	0.29693	T	0.1779580171577527	0.22783	0.075	0.05447	B	.;.;.	.;.;.	2.064930	0.26254	17.05	0.99105584548120096	0.52597	0.87530	0.47099	D	AEFBCI	0.752211	0.69278	D	-0.548238631325978	0.20539	1.083477	-0.478068857916935	0.22758	1.237751	0.999985858854824	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	3.39	0.37919	2.854000	0.48024	1.883000	0.29465	0.676000	0.76740	0.888000	0.31154	0.923000	0.28366	0.605000	0.31514	0.1392:0.1212:0.7396:0.0	9.142	0.36072	734	0.53889	Anticodon-binding;Anticodon-binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1054.33	35	chr5	33467652	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=750;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-1.003;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	18	0	1	0
chr5	34850284	34850284	G	A	exonic	TTC23L	.	nonsynonymous SNV	TTC23L:NM_001317949:exon4:c.G382A:p.A128T,TTC23L:NM_144725:exon4:c.G355A:p.A119T	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	.	0.0003	0.0123802	0.0084	0.0014	0.0497	0.0444	0	0.0002	0.0078	0.0016	0.0079688	1232	154602	rs77793555	0.0027	0.0027	0.0029	0.0025	0.0430	0.0027	0.0026	0.0413	0.0406	0.0006	0.0423	7.655e-05	0.0430	0	0.0005	4.857e-05	0.0031	0.0016	0.0039	0.0039	0.0035	0.0043	0.0400	0.0036	0.0035	0.0355	0.0338	0.0014	0	0.0191	0	0.0400	0	0	0.0001	0.0038	0.0035	0.0	0.91255	D	0.014	0.62352	D	0.86	0.47373	P	0.536	0.48739	P	0.000038	0.55875	D	0.070469	0.882797	0.35786	D	3.04	0.86592	M	1.52	0.30669	T	-3.53	0.68532	D	0.861	0.85766	-0.8899	0.48943	T	0.036	0.15683	T	10	0.0057324767	0.00128	T	.	.	.	0.299	0.61955	.	.	0.543824025769	0.54036	0.4172097388865893	0.41636	0.472169439514	0.46456	0.482061594725	0.36341	T	0.266228	0.63816	T	-0.125548	0.32219	T	0.0826532	0.75756	D	0.0671150318669231	0.08240	T	0.838216	0.51127	T	0.6665062	0.76246	0.60619634	0.77105	0.6665062	0.76247	0.60619634	0.77106	-9.734	0.73431	D	.	.	0.727	0.75917	P	.;.;.;.	.;.;.;.	3.860427	0.55978	23.7	0.99918226172567981	0.98586	0.87105	0.46545	D	AEFBI	0.525241	0.54810	D	0.522463734321142	0.68419	5.214808	0.492345305884042	0.67483	5.089913	0.999998199985041	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.84	4.84	0.62125	4.945000	0.63269	8.437000	0.77185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:0.0:1.0:0.0	13.303	0.59775	702	0.57624	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1878.33	39	chr5	34850284	.	G	A	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.122;DP=760;ExcessHet=0;FS=6.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.812;SOR=1.189	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	18	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G,SPEF2:NM_144722:exon5:c.A601G:p.R201G	.	436	1032	52	2	0	56	0.0264151	.	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.024673	0.010101	0.025815	0.017544	0.000000	0.051724	0.012195	0.060606	0.05263	1435.83	33	chr5	35646682	.	A	G	1435.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.476;DP=736;ExcessHet=0.119;FS=4.795;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.174;SOR=1.068	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	17	0	2	0
chr5	35691145	35691145	C	T	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon11:c.C1633T:p.P545S	.	436	1075	11	0	0	11	0.00509024	.	.	.	699073	not_provided|SPEF2-related_disorder|Spermatogenic_failure_43	MedGen:C3661900|.|MONDO:MONDO:0032898,MedGen:C5231490,OMIM:618751	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0231360690899	0.0021	0.00139776	0.0018	0.0006	0.0011	0	0.0005	0.0023	0.0033	0.0022	0.0019146	296	154602	rs185000070	0.0023	0.0023	0.0024	0.0023	0.0027	0.0023	0.0023	0.0026	0.0025	0.0003	0.0013	0.0018	2.52e-05	0.0003	0.0024	0.0027	0.0021	0.0023	0.0015	0.0015	0.0016	0.0014	0.0035	0.0013	0.0013	0.0022	0.0019	0.0004	0	0.0014	0.0020	0	9.438e-05	0.0034	0.0023	0.0019	0.0035	0.009	0.59928	D	0.164	0.39645	T	1.0	0.90584	D	0.996	0.84481	D	0.000450	0.44317	D	0.194321	0.979541	0.39573	D	2.085	0.57729	M	3.02	0.08986	T	-5.04	0.82638	D	0.622	0.70702	-0.8658	0.50842	T	0.181	0.52752	T	10	0.016685545	0.00353	T	0.023136	0.46083	T	0.143	0.38195	.	.	0.672219426627	0.66944	0.4715939363711556	0.47078	0.230613910465	0.25609	0.344848781824	0.17160	T	0.227424	0.77442	T	-0.327884	0.06272	T	-0.242531	0.50551	T	0.0433996387942982	0.04311	T	0.818018	0.47523	T	0.22759393	0.45463	0.25933942	0.51681	0.22759393	0.45463	0.25933942	0.51680	-7.664	0.58757	D	.	.	0.155	0.40376	B	.;.;.;.	.;.;.;.	3.297776	0.45254	22.1	0.99832449593896788	0.91370	0.92019	0.54766	D	AEFGI	0.404398	0.47770	N	0.502469502213988	0.67234	5.054756	0.464341048770069	0.65643	4.849762	0.814221621546544	0.24410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	4.68	0.58319	5.146000	0.64688	3.218000	0.36838	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.215000	0.22324	0.1577:0.8423:0.0:0.0	13.327	0.59902	594	0.68584	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2604.33	34	chr5	35691145	.	C	T	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=831;ExcessHet=0;FS=2.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.941;SOR=0.86	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr5	35771734	35771734	A	C	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon27:c.A3927C:p.K1309N	.	.	.	.	.	.	.	.	.	.	.	2427631	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00550760798978	0.0002	.	6.771e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs377531929	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	5.244e-05	0	0	0	0	0.0002	0.0002	6.182e-05	6.57e-05	6.567e-05	0.0001	2.69e-05	0.0002	3.516e-05	2.616e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	8.82e-05	0.0005	0	0.311	0.14207	T	0.299	0.20811	T	0.001	0.09854	B	0.001	0.08700	B	0.844690	0.07021	N	1.063200	0.94721	0.26607	N	2.085	0.57729	M	2.96	0.09542	T	-1.58	0.38151	N	0.207	0.22998	-1.0550	0.13040	T	0.030	0.12760	T	10	0.05512169	0.05975	T	0.005508	0.14197	T	0.038	0.09825	0.211	0.12923	0.0482279557977	0.04254	0.130610935694144	0.12986	0.03212426349	0.03340	0.363018095493	0.19825	T	0.018456	0.29991	T	-0.48896	0.00658	T	-0.703465	0.05639	T	0.0431703074204647	0.04269	T	0.576842	0.20728	T	0.12744206	0.29821	0.10016269	0.23940	0.12744206	0.29821	0.10016269	0.23940	-5.249	0.39435	T	.	.	0.201	0.42477	B	.;.;.	.;.;.	0.683071	0.10515	7.229	0.95929661006846367	0.28211	0.09240	0.15036	N	AEFGBHCI	0.119732	0.23355	N	-0.63926144592434	0.17774	0.9174506	-0.610987182495193	0.19210	1.029703	0.999998070924034	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.68	3.31	0.37025	0.089000	0.14843	0.481000	0.18806	0.691000	0.84096	0.031000	0.20493	0.002000	0.18203	0.165000	0.20815	0.8199:0.0:0.1801:0.0	6.775	0.22802	518	0.74548	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1867.33	35	chr5	35771734	.	A	C	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.882;DP=784;ExcessHet=0;FS=1.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.336;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	18	0	1	0
chr5	35800061	35800061	G	A	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon34:c.G4924A:p.V1642M	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00976732512976	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs748939636	1.779e-05	1.779e-05	2.042e-05	1.513e-05	5.974e-05	1.237e-05	1.051e-05	1.175e-05	9.55e-06	5.974e-05	4.472e-05	0	2.519e-05	0	0	1.799e-05	0	1.159e-05	1.973e-05	2.627e-05	3.856e-05	0	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.169	0.22920	T	0.434	0.13993	T	0.089	0.27759	B	0.007	0.17743	B	0.632025	0.10678	N	0.842130	1	0.08975	N	0.905	0.23240	L	-0.01	0.62762	T	-0.38	0.14782	N	0.096	0.07673	-1.0535	0.13440	T	0.078	0.31103	T	10	0.06683037	0.09224	T	0.009767	0.25495	T	0.056	0.15993	0.533	0.64148	0.324986149311	0.32103	0.037948908525710784	0.03740	0.0300485160316	0.03099	0.248471438885	0.03608	T	0.049684	0.28379	T	-0.213804	0.18846	T	-0.462026	0.26378	T	0.0508769172976446	0.05652	T	0.648035	0.25918	T	0.045995034	0.07624	0.075492	0.16623	0.045995034	0.07624	0.075492	0.16623	-2.877	0.08925	T	.	.	0.083	0.14385	B	.;.	.;.	0.192836	0.05785	2.229	0.79110462846181406	0.12594	0.03434	0.08569	N	AEFDBI	0.056787	0.10526	N	-1.09111462255708	0.06805	0.3143611	-1.08220054435807	0.08051	0.3941767	0.989341016414723	0.31795	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.57	-0.605	0.11040	-0.301000	0.08269	-0.640000	0.08082	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.4991:0.0:0.3699:0.131	6.005	0.18771	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	8343.81	45	chr5	35800061	.	G	A	8343.81	.	AC=2;AF=0.053;AN=38;DP=1012;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.8;SOR=0.767	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	1	0	0
chr5	35871212	35871212	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon4:c.C536T:p.T179M	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	.	.	.	.	.	.	.	0.0012	0.102	YES	1892073	Immunodeficiency_104|not_specified	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00389211897062	.	.	9.411e-05	0	0.0002	0.0009	0	1.562e-05	0	0	7.12e-05	11	154602	rs200751605	3.777e-05	4.173e-05	3.829e-05	3.725e-05	0.0009	2.971e-05	2.666e-05	0.0007	0.0006	0	2.238e-05	0	0.0009	0	0.0002	1.084e-05	3.325e-05	3.483e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.409	0.10180	T	0.328	0.18675	T	0.012	0.16265	B	0.003	0.08700	B	0.118225	0.19122	N	0.591181	0.998686	0.21986	N	-1.37	0.00637	N	0.36	0.57880	T	0.07	0.16598	N	0.147	0.14905	-1.0484	0.14846	T	0.039	0.16634	T	10	0.018188357	0.00393	T	0.003892	0.09148	T	0.136	0.36778	0.441	0.49648	0.490771696789	0.48710	0.22278173629223655	0.22193	0.0141959289867	0.01355	0.335486233234	0.15762	T	0.118733	0.43977	T	-0.434152	0.01400	T	-0.431784	0.29732	T	0.0343631292772797	0.02699	T	0.393061	0.09795	T	0.04371096	0.06861	0.037942916	0.03556	0.04371096	0.06861	0.037942916	0.03556	-3.881	0.26519	T	0.062194274880692624	0.01827	0.048	0.00084	B	.;.	.;.	1.140539	0.15277	11.73	0.95295336425394594	0.26607	0.01727	0.05464	N	AEFBI	0.043722	0.06948	N	-1.0808663057083	0.06996	0.324	-0.939685689614371	0.11163	0.5670264	0.961159513049245	0.28535	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.41	-3.6	0.04277	-0.205000	0.09413	-1.182000	0.06094	-0.108000	0.15293	0.958000	0.33488	0.002000	0.18203	0.921000	0.45669	0.2481:0.3183:0.1272:0.3064	0.997	0.01377	634	0.64659	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1564.33	36	chr5	35871212	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.714;SOR=0.723	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	35988487	35988487	C	-	exonic	UGT3A1	.	frameshift deletion	UGT3A1:NM_152404:exon2:c.159delG:p.T54Lfs*10	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.084e-05	0	0.0002	0	0	1.501e-05	0	0.0005	7.12e-05	11	154602	rs757866159	5.205e-05	5.336e-05	3.543e-05	6.884e-05	0.0012	4.263e-05	3.892e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	1.53e-05	0.0002	0.0004	3.287e-05	3.284e-05	3.855e-05	2.692e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1391.29	37	chr5	35988486	.	TC	T	1391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.041;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1074	18	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	434.77	112	chr5	36976312	.	G	C	434.77	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.913;DP=2363;ExcessHet=0.7564;FS=233.054;InbreedingCoeff=-0.3099;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.42;SOR=10.893	GT:AD:DP:GQ:PL	./.:107,0:107:0:0,0,1822	5	0	4	10
chr5	37169194	37169194	T	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon34:c.A6830C:p.Q2277P,CPLANE1:NM_023073:exon34:c.A6830C:p.Q2277P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00553387396313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.16628	T	0.181	0.29346	T	.	.	.	.	.	.	0.713277	0.09996	N	0.856460	1	0.08975	N	.	.	.	1.89	0.23688	T	-0.55	0.16799	N	0.086	0.10198	-1.0037	0.28844	T	0.035	0.14857	T	10	0.07541081	0.11651	T	0.005534	0.14258	T	0.010	0.01040	.	.	0.126345400529	0.12197	0.13684421542051245	0.13608	0.14765671304	0.16662	.	.	.	0.005775	0.07024	T	-0.289835	0.09652	T	-0.654104	0.08669	T	0.107207208871841	0.13131	T	0.493751	0.15260	T	0.08783549	0.20468	0.099811606	0.23844	0.08783549	0.20468	0.099811606	0.23843	-2.936	0.09508	T	0.11374253387425352	0.09988	0.067	0.03128	B	.;.;.	.;.;.	0.123372	0.05206	1.715	0.42378211590224724	0.03120	0.17726	0.19961	N	AEFBI	0.145791	0.26908	N	-1.03083889239714	0.07969	0.3720266	-1.04250771898162	0.08863	0.4379336	0.0738185135377731	0.15646	0.562547	0.31514	0	0.636889	0.57051	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.81	0.791	0.17762	0.117000	0.15414	-0.386000	0.09508	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.052000	0.15357	0.0:0.0722:0.3932:0.5345	7.940	0.29117	138	0.94518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2063.33	34	chr5	37169194	.	T	G	2063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=823;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.286;SOR=0.625	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr5	37175927	37175927	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon31:c.C5960T:p.T1987M,CPLANE1:NM_023073:exon31:c.C5960T:p.T1987M	.	.	.	.	.	.	.	.	.	.	.	1043582	Joubert_syndrome_17|Orofaciodigital_syndrome_type_6|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0110358946817	0.0002	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs141126113	1.712e-05	1.779e-05	1.635e-05	1.789e-05	0.0002	1.175e-05	9.93e-06	0.0001	8.682e-05	0.0002	4.479e-05	0	0	0	0	9.901e-06	6.63e-05	0	1.972e-05	1.971e-05	2.571e-05	1.346e-05	0.0001	5.24e-06	2.45e-06	2.264e-05	9.08e-06	2.415e-05	0	0.0001	0	0	0	0	0	0	0	0.316	0.14303	T	0.068	0.44501	T	.	.	.	.	.	.	0.004665	0.33505	N	0.168099	0.999339	0.21346	N	.	.	.	1.87	0.24085	T	-1.56	0.37759	N	0.154	0.16447	-1.0811	0.07137	T	0.050	0.21339	T	10	0.07984108	0.12889	T	0.011036	0.28250	T	0.059	0.16972	.	.	0.240491677333	0.23641	0.14765720413903313	0.14687	0.163182657667	0.18416	.	.	.	0.010052	0.10959	T	-0.377787	0.03217	T	-0.604594	0.12427	T	0.22811621427536	0.21862	T	0.759024	0.38317	T	0.035602547	0.04221	0.040920414	0.04533	0.035602547	0.04220	0.040920414	0.04532	-4.878	0.35487	T	0.3940702617059142	0.48684	0.096	0.21125	B	.;.;.	.;.;.	2.234040	0.28519	17.82	0.98432112343510447	0.41409	0.30746	0.24161	N	AEFGBI	0.064762	0.12593	N	-0.160980307622621	0.34770	1.988638	-0.235648672942161	0.30268	1.702829	0.303184122753881	0.19210	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.77	1.63	0.22882	0.438000	0.21277	1.350000	0.25801	0.676000	0.76740	0.253000	0.24879	0.809000	0.27020	0.647000	0.32611	0.0801:0.1334:0.4069:0.3796	3.680	0.07839	138	0.94518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.33	20	chr5	37175927	.	G	A	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=581;ExcessHet=0;FS=5.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.381;SOR=0.193	GT:AD:DP:GQ:PL	0/1:17,20:37:99:539,0,404	18	0	1	0
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K,CPLANE1:NM_023073:exon26:c.C4793A:p.T1598K	.	1	1495	26	0	0	26	0.00862069	.	.	.	501350	Joubert_syndrome_17|CPLANE1-related_disorder|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.008772	0.000000	0.008621	0.006098	0.007576	0.02632	2001.33	35	chr5	37183388	.	G	T	2001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.687;DP=870;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.519;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	18	0	1	0
chr5	37213580	37213580	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon16:c.C2899T:p.P967S,CPLANE1:NM_023073:exon16:c.C2899T:p.P967S	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0468746484885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329332026	5.032e-06	1.163e-05	4.253e-06	5.834e-06	2.868e-05	2.09e-06	1.35e-06	2.01e-06	1.32e-06	0	2.868e-05	0	0	0	0	5.586e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.026	0.92824	D	.	.	.	.	.	.	0.000155	0.49130	U	0.082793	0.928174	0.81001	D	.	.	.	1.3	0.35590	T	-5.16	0.83422	D	0.552	0.57775	-0.8122	0.54417	T	0.170	0.51101	T	10	0.61122155	0.67455	D	0.046875	0.62662	D	0.312	0.63375	0.545	0.65873	0.575612498716	0.57230	0.4951824790137009	0.49439	0.573132785276	0.53379	.	.	.	0.290365	0.66313	T	0.110042	0.65357	D	-0.0797082	0.64925	T	0.995231688022614	0.87065	D	0.856914	0.55036	D	0.28629795	0.51646	0.43557924	0.67039	0.28629795	0.51646	0.43557924	0.67040	-4.023	0.24147	T	0.6774638901809924	0.75337	0.229	0.50287	B	.;.;.	.;.;.	4.661072	0.74398	26.2	0.99639134675391983	0.76571	0.98195	0.80430	D	AEFBI	0.783918	0.71476	D	0.713151391937804	0.80493	7.306688	0.712878242895202	0.83355	8.000369	0.999999999773213	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.090000	0.76577	9.600000	0.81064	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.9251:0.0	13.552	0.61199	151	0.94052	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1942.33	34	chr5	37213580	.	G	A	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=807;ExcessHet=0;FS=2.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.1;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	18	0	1	0
chr5	37239733	37239733	G	C	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon7:c.C814G:p.L272V,CPLANE1:NM_023073:exon7:c.C814G:p.L272V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00940763176297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.424e-06	8.893e-06	1.284e-05	5.893e-06	1.217e-05	5.26e-06	4.05e-06	6.79e-06	5.23e-06	0	0	0	0	0	0	1.217e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.093	0.39799	T	.	.	.	.	.	.	0.017589	0.27685	U	0.216602	1	0.81001	D	.	.	.	0.71	0.51228	T	-1.13	0.29114	N	0.307	0.34659	-1.0900	0.05532	T	0.096	0.36055	T	10	0.16347605	0.30610	T	0.009408	0.24670	T	0.091	0.26358	0.261	0.20473	0.581850371773	0.57856	0.07336335455569093	0.07273	0.144110295782	0.16271	.	.	.	0.009974	0.09046	T	-0.0907239	0.37956	T	-0.368095	0.37111	T	0.61422199010849	0.36970	D	0.686731	0.29555	T	0.10120802	0.23906	0.0727192	0.15721	0.10120802	0.23905	0.0727192	0.15721	-4.037	0.24355	T	0.4346176551454514	0.52118	0.075	0.05711	B	.;.	.;.	1.668576	0.21274	15.13	0.99145080840443789	0.53655	0.81906	0.41219	D	AEFDGBI	0.163772	0.29009	N	0.200459176834163	0.51221	3.305169	0.27951658295728	0.54346	3.599758	0.401047293413538	0.20130	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.46	4.53	0.55009	0.631000	0.24258	3.229000	0.36897	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.2902:0.5756:0.1342	9.002	0.35247	160	0.93798	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	34	chr5	37239733	.	G	C	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.48;DP=739;ExcessHet=0;FS=4.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.571;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	18	0	1	0
chr5	38409052	38409052	G	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon5:c.G595A:p.G199R,EGFLAM:NM_001205301:exon10:c.G1297A:p.G433R,EGFLAM:NM_152403:exon10:c.G1297A:p.G433R	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.251911806775	7.7e-05	.	0.0010	0	0.0003	0	0	0.0003	0	0.0037	0.0004075	63	154602	rs201077948	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	3.016e-05	0.0004	0.0012	2.561e-05	0	0.0023	7.079e-05	0.0003	0.0026	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0014	0	0	0.0068	0.0001	0	0.0012	0.028	0.46129	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049513	1	0.81001	D	2.04	0.55661	M	-0.87	0.74583	T	-1.76	0.48020	N	0.682	0.75283	-0.1301	0.79399	T	0.577	0.84729	D	10	0.119107634	0.22532	T	0.251912	0.89151	D	0.520	0.79583	0.696	0.83313	0.873324186048	0.87209	0.796047344045307	0.79557	0.526958073932	0.50312	0.664157032967	0.62004	T	0.226027	0.59093	T	-0.0382169	0.46213	T	0.16709	0.81235	D	0.0709222806418665	0.08780	T	0.962804	0.86152	D	0.24193795	0.47115	0.2710773	0.53005	0.24193795	0.47115	0.2710773	0.53004	-8.206	0.62466	D	.	.	0.449	0.71071	A	.;.;.	.;.;.	5.208236	0.87384	29.2	0.99923519393744442	0.98917	0.99113	0.91417	D	AEFGBI	0.955192	0.97285	D	0.56538432362743	0.71023	5.588407	0.497631844228223	0.67833	5.137228	0.999999999999954	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	8.03E-4	0.00125	3	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	9.271000	0.94922	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:1.0:0.0	20.103	0.97879	845	0.36510	Laminin G domain|Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1008.33	35	chr5	38409052	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=712;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.515;SOR=0.564	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1022,0,912	18	0	1	0
chr5	38418209	38418209	C	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon7:c.C936A:p.D312E,EGFLAM:NM_001205301:exon12:c.C1638A:p.D546E,EGFLAM:NM_152403:exon12:c.C1638A:p.D546E	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	.	0.0012	0.00219649	0.0030	0	0.0018	0	0.0011	0.0021	0.0055	0.0113	0.0027555	426	154602	rs146754357	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0015	0.0100	0.0098	5.974e-05	0.0013	0.0057	5.038e-05	0.0009	0.0120	0.0009	0.0021	0.0106	0.0016	0.0016	0.0012	0.0021	0.0125	0.0015	0.0014	0.0099	0.0090	0.0001	0	0.0034	0.0055	0.0002	0.0009	0.0068	0.0014	0.0019	0.0125	0.178	0.50132	T	0.01	0.65728	D	0.987	0.73220	D	0.946	0.70672	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-1.59	0.82076	D	-1.58	0.38151	N	0.934	0.95608	0.181	0.85585	D	0.636	0.87270	D	10	0.012768745	0.00273	T	.	.	.	0.645	0.86536	0.674	0.81200	0.715032251236	0.71253	0.4969246938967574	0.49613	0.471409030193	0.46407	0.60979115963	0.54286	T	0.192579	0.54778	T	-0.00602708	0.50820	T	0.228954	0.84621	D	0.0328081791101915	0.02440	T	0.776822	0.40920	T	0.20550063	0.42694	0.21532542	0.46116	0.20550063	0.42694	0.21532542	0.46115	-5.949	0.45935	T	.	.	0.545	0.66579	A	.;.;.	.;.;.	2.667700	0.34770	19.72	0.99802575147595984	0.88728	0.93766	0.59130	D	AEFDGBI	0.726788	0.67534	D	0.439899094466457	0.63633	4.600774	0.469198159260859	0.65958	4.890156	0.999999999983834	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.78	5.78	0.91418	1.749000	0.37946	1.384000	0.26059	0.595000	0.32841	0.999000	0.42656	0.807000	0.27003	0.574000	0.30748	0.0:0.9307:0.0:0.0693	15.178	0.72618	878	0.29785	Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.005435	0.008772	0.000000	0.017241	0.012195	0.022727	0.02632	2306.33	42	chr5	38418209	.	C	A	2306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=836;ExcessHet=0;FS=4.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.626;SOR=0.995	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1287	18	0	1	0
chr5	38482181	38482181	C	T	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon20:c.G2708A:p.C903Y,LIFR:NM_001364297:exon20:c.G2708A:p.C903Y,LIFR:NM_001364298:exon20:c.G2675A:p.C892Y,LIFR:NM_002310:exon20:c.G2708A:p.C903Y	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0265810954048	.	.	8.562e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756149177	4.155e-06	4.788e-06	2.755e-06	5.572e-06	1.219e-05	1.49e-06	9.8e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.515e-06	0	1.219e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.100692	0.999996	0.58761	D	2.65	0.77586	M	0.16	0.60610	T	-6.64	0.92217	D	0.786	0.85766	-0.3470	0.73640	T	0.410	0.75880	T	10	0.8248005	0.81665	D	0.026581	0.49475	D	0.389	0.70521	0.419	0.46036	0.88182228603	0.88066	0.5133420254266727	0.51256	0.607286170727	0.55543	0.828346729279	0.86309	D	0.80582	0.95095	D	0.327837	0.85017	D	0.233139	0.84822	D	0.987414419651031	0.77915	D	0.868313	0.57032	D	0.780658	0.82694	0.9095176	0.95654	0.780658	0.82695	0.9095176	0.95655	-5.367	0.40601	T	.	.	0.953	0.87923	P	.;.	.;.	4.635948	0.73751	26.0	0.99772268669393238	0.86003	0.95363	0.64428	D	AEFBI	0.833369	0.75159	D	0.811693039180845	0.86831	9.013729	0.811418696545393	0.90578	10.47045	0.999999996109345	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	5.187000	0.64925	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.640	0.99540	465	0.78421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	581.33	37	chr5	38482181	.	C	T	581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=698;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.379;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	18	0	1	0
chr5	38484788	38484788	G	A	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon18:c.C2578T:p.R860W,LIFR:NM_001364297:exon18:c.C2578T:p.R860W,LIFR:NM_001364298:exon18:c.C2545T:p.R849W,LIFR:NM_002310:exon18:c.C2578T:p.R860W	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	2	1507	13	0	0	13	0.00429468	.	.	.	299778	Connective_tissue_disorder|Stuve-Wiedemann_syndrome|LIFR-related_disorder|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.219	.	0.0005	0.00319489	0.0041	0.0003	0.0002	0	0.0012	0.0009	0.0011	0.0263	0.0035899	555	154602	rs146205670	0.0020	0.0020	0.0013	0.0028	0.0249	0.0020	0.0019	0.0240	0.0236	0.0001	0.0002	0	0	0.0009	0.0010	0.0006	0.0015	0.0249	0.0012	0.0012	0.0010	0.0015	0.0199	0.0011	0.0010	0.0167	0.0155	9.63e-05	0.0362	6.541e-05	0	0.0002	0.0003	0.0034	0.0007	0.0009	0.0199	0.052	0.39097	T	0.001	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.001002	0.40652	N	0.252707	0.972982	0.38989	D	1.28	0.32218	L	0.4	0.57261	T	-0.52	0.16187	N	0.698	0.70439	-0.6244	0.63806	T	0.257	0.62766	T	10	0.010631561	0.00236	T	.	.	.	0.219	0.51417	.	.	0.703787998623	0.70121	0.6465233660164966	0.64587	0.476854262353	0.46806	0.685845673084	0.65107	T	0.512812	0.82810	D	-0.216247	0.18509	T	-0.0651465	0.65970	T	0.0297199821076756	0.01947	T	0.940606	0.77652	D	0.115207836	0.27188	0.09398647	0.22225	0.1006522	0.23769	0.1084894	0.26132	-7.61	0.58381	D	.	.	0.166	0.37388	B	.;.	.;.	5.513726	0.91708	32	0.99864331801271655	0.94276	0.88079	0.47852	D	AEFBI	0.564678	0.57137	D	0.447110674081447	0.64040	4.649756	0.431008181797032	0.63505	4.585711	0.998592136803313	0.37268	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.78	3.86	0.43689	3.010000	0.49246	5.037000	0.46877	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6311:0.3688	14.616	0.68145	465	0.78421	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1579.33	36	chr5	38484788	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.72;SOR=0.683	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1593,0,1057	18	0	1	0
chr5	38506006	38506006	A	C	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon9:c.T1190G:p.F397C,LIFR:NM_001364297:exon9:c.T1190G:p.F397C,LIFR:NM_001364298:exon9:c.T1190G:p.F397C,LIFR:NM_002310:exon9:c.T1190G:p.F397C	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	161	1360	1	0	0	1	0.000367512	.	.	.	1875130	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.00906075082792	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001488	23	154602	rs369830202	8.446e-05	8.688e-05	4.51e-05	0.0001	0.0014	7.23e-05	6.775e-05	0.0012	0.0011	0	0	0	0	0	0	9.024e-07	3.325e-05	0.0014	5.253e-05	5.25e-05	1.285e-05	9.4e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.18	0.21968	T	0.192	0.28300	T	0.062	0.23277	B	0.024	0.20255	B	0.429317	0.12768	N	0.760646	0.735252	0.29789	N	2.455	0.71248	M	1.03	0.40469	T	-1.66	0.39692	N	0.878	0.87917	-0.9385	0.42853	T	0.122	0.42336	T	10	0.25957292	0.43397	T	0.009061	0.23845	T	0.125	0.34456	0.364	0.37036	0.635445006688	0.63245	0.8348163589864112	0.83440	0.164863425096	0.18598	0.555943012238	0.46695	T	0.574479	0.85965	D	-0.254547	0.13546	T	-0.173794	0.57095	T	0.105957776645514	0.13001	T	0.69513	0.30474	T	0.34713235	0.56844	0.13818163	0.33008	0.34713235	0.56844	0.13818163	0.33007	-6.172	0.47696	T	.	.	0.642	0.70584	P	.;.	.;.	3.516872	0.49280	22.8	0.79257710114422297	0.12660	0.97216	0.73376	D	AEFBI	0.585277	0.58377	D	-0.124927971501976	0.36309	2.097041	-0.0455493643782265	0.37685	2.209756	0.999959461090587	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	5.331000	0.65681	9.255000	0.79518	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	1.0:0.0:0.0:0.0	12.881	0.57408	483	0.77230	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	592.33	38	chr5	38506006	.	A	C	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=683;ExcessHet=0;FS=0.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.028;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1053	7115.43	33	chr5	38933380	.	C	G	7115.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.67;DP=1141;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.513;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	15	0	4	0
chr5	39388315	39388315	T	C	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001343:exon9:c.A677G:p.N226S	.	434	1077	10	1	0	12	0.00554017	.	.	.	2693492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00415153768804	.	.	9.066e-05	0	8.639e-05	0.0008	0	0	0	0.0002	8.41e-05	13	154602	rs761105526	5.416e-05	5.473e-05	4.23e-05	6.613e-05	0.0007	4.42e-05	4.091e-05	0.0005	0.0004	0	4.505e-05	0	0.0007	0	0.0003	1.261e-05	9.958e-05	0.0003	3.283e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0004	0.506	0.09776	T	0.848	0.04302	T	0.0	0.02946	B	0.003	0.08700	B	0.000075	0.52346	N	0.228671	1	0.81001	D	1.845	0.48678	L	1.37	0.36146	T	-0.77	0.27876	N	0.122	0.15469	-1.0805	0.07252	T	0.054	0.22959	T	10	0.047252774	0.04019	T	0.004152	0.09963	T	0.059	0.16972	0.202	0.11659	0.503707123301	0.50008	0.08634192106977362	0.08568	0.0571399404724	0.06324	0.303436338902	0.10915	T	0.321357	0.69246	T	-0.521792	0.00430	T	-0.644564	0.09340	T	0.047084754981935	0.04980	T	0.89891	0.64583	D	0.07570789	0.17075	0.05499572	0.09565	0.07570789	0.17074	0.05499572	0.09564	-2.502	0.06949	T	.	.	0.069	0.09868	B	.;.	.;.	1.890387	0.24013	16.24	0.90489921094194614	0.19747	0.86912	0.46301	D	AEBI	0.602121	0.59410	D	-0.266018949131415	0.30470	1.699239	-0.0456226800593439	0.37680	2.209533	0.999999138534205	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	6.17	5.03	0.67015	3.257000	0.51201	2.890000	0.35384	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1614:0.0:0.8386	9.107	0.35865	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1704.33	159	chr5	39388315	.	T	C	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.64;DP=786;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.38;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	18	0	1	0
chr5	39389886	39389886	T	C	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001244871:exon6:c.A509G:p.Y170C,DAB2:NM_001343:exon6:c.A509G:p.Y170C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.0210536932037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194308245	7.622e-06	8.893e-06	6.899e-06	8.352e-06	8.281e-05	4.09e-06	2.99e-06	3.834e-05	2.706e-05	0	0	0	0	0	0	2.728e-06	1.675e-05	8.281e-05	6.565e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.024	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.75793	D	0.000000	0.84330	D	0.049791	0.999988	0.54805	D	1.83	0.48079	L	1.43	0.32958	T	-7.72	0.95696	D	0.96	0.97961	-0.9161	0.46076	T	0.148	0.47398	T	10	0.9416495	0.93490	D	0.021054	0.43768	T	0.615	0.84986	0.833	0.94168	0.817131274076	0.81540	0.47423420172466785	0.47342	0.439492444205	0.43977	0.773605883121	0.77965	T	0.52817	0.83623	D	0.239534	0.77617	D	0.106297	0.77326	D	0.98533684015274	0.76359	D	0.966353	0.88511	D	0.8618442	0.88227	0.8423418	0.90993	0.8618442	0.88228	0.8423418	0.90994	-10.902	0.79118	D	.	.	0.577	0.67928	P	.;.;.;.	.;.;.;.	5.158949	0.86435	28.9	0.99390582528480731	0.62337	0.96444	0.69170	D	AEFBI	0.892429	0.82936	D	0.65341177604512	0.76589	6.514632	0.678302601495437	0.80736	7.365343	0.999999990364593	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.94	5.94	0.96165	4.994000	0.63640	6.109000	0.53642	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.407	0.83529	596	0.68392	.;.;PTB/PI domain|PTB/PI domain|PTB/PI domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	35	chr5	39389886	.	T	C	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.682;DP=696;ExcessHet=0;FS=5.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.273;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr5	40852608	40852608	G	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.G1276C:p.D426H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.00775411271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.029	0.54541	D	0.995	0.67487	D	0.819	0.59018	P	0.380602	0.13394	N	0.699309	1	0.81001	D	3.06	0.86941	M	2.43	0.15261	T	-4.87	0.81269	D	0.231	0.25989	-1.0235	0.22573	T	0.097	0.36315	T	10	0.3064858	0.48158	T	0.007754	0.20563	T	0.197	0.47942	0.268	0.21576	0.479518371956	0.47582	0.461977430210945	0.46115	0.0586957381805	0.06515	0.310545355082	0.11989	T	0.230079	0.59606	T	-0.110033	0.34761	T	-0.395831	0.33870	T	0.929695188999176	0.59392	D	0.690331	0.29972	T	0.21736588	0.44218	0.33417308	0.59245	0.21736588	0.44218	0.33417308	0.59245	-6.33	0.48959	T	.	.	0.228	0.45978	B	.	.	3.324145	0.45731	22.2	0.99432273443457886	0.64325	0.91241	0.53137	D	AEFBI	0.418192	0.48593	N	0.561099383594073	0.70760	5.549131	0.507770818156445	0.68511	5.23033	0.99995613665939	0.48110	0.706548	0.73137	0	0.670034	0.63936	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.49	3.57	0.40014	3.143000	0.50304	4.085000	0.41766	0.676000	0.76740	1.000000	0.71638	0.782000	0.26788	0.969000	0.54022	0.181:0.0:0.819:0.0	9.575	0.38615	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	34	chr5	40852608	.	G	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.92;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.34;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1201	18	0	1	0
chr5	40853902	40853902	C	T	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2570T:p.S857L	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00410600996475	0.0027	0.00159744	0.0024	0.0006	0.0014	0	0.0014	0.0037	0.0044	0.0011	0.0024191	374	154602	rs148780446	0.0026	0.0026	0.0025	0.0027	0.0102	0.0025	0.0025	0.0081	0.0074	0.0006	0.0022	0.0016	0	0.0013	0.0102	0.0029	0.0027	0.0012	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0.0011	0.0031	0.0012	0	0.0023	0.0034	0.0043	0.0052	0.0008	1.0	0.00964	T	0.611	0.07666	T	0.002	0.09854	B	0.003	0.08700	B	0.429181	0.04694	N	1.414550	1	0.08975	N	0.255	0.09829	N	2.62	0.12988	T	-1.1	0.28497	N	0.092	0.07125	-0.9757	0.35970	T	0.020	0.08407	T	10	0.004354179	0.00088	T	0.004106	0.09806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.08456952007917354	0.08390	0.0254265368398	0.02595	0.262113213539	0.05144	T	0.013495	0.11662	T	-0.620703	0.00109	T	-0.663557	0.08028	T	0.00111350901734773	0.00011	T	0.556944	0.19352	T	0.020639135	0.00629	0.031389404	0.01720	0.020639135	0.00629	0.031389404	0.01720	-3.764	0.20268	T	.	.	0.096	0.15385	B	.	.	0.975961	0.13534	10.06	0.79962525394144957	0.12981	0.02723	0.07386	N	AEFDGBI	0.043554	0.06900	N	-0.977136948018202	0.09093	0.428983	-0.989187056023902	0.10027	0.5024787	0.999647585175809	0.41316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.9	0.847	0.18099	-0.071000	0.11465	0.597000	0.19884	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.5993:0.0:0.4007	7.925	0.29034	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.020202	0.017663	0.005848	0.000000	0.034483	0.018293	0.000000	0.02632	1740.33	34	chr5	40853902	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.708;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1201	18	0	1	0
chr5	41067157	41067157	A	G	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon3:c.T152C:p.I51T	.	432	1068	22	0	0	22	0.0101946	.	.	.	2827747	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	.	0.0032	0.00139776	0.0046	0.0012	0.0124	0.0021	0.0030	0.0079	0	0.0011	0.0024256	375	154602	rs139046598	0.0040	0.0039	0.0039	0.0040	0.0151	0.0039	0.0038	0.0125	0.0116	0.0010	0.0041	0.0041	8.134e-05	0.0020	0.0151	0.0044	0.0046	0.0014	0.0033	0.0033	0.0038	0.0028	0.0049	0.0031	0.0030	0.0045	0.0043	0.0007	0.0088	0.0041	0.0078	0	0.0019	0	0.0049	0.0085	0.0010	1.0	0.00964	T	0.075	0.42794	T	0.763	0.43659	P	0.124	0.32546	B	0.000544	0.43413	D	0.102200	0.730222	0.29837	N	0.55	0.14455	N	3.33	0.06138	T	1.92	0.00446	N	0.484	0.51851	-0.9958	0.31082	T	0.007	0.02321	T	10	0.008872449	0.00201	T	.	.	.	0.140	0.37593	.	.	0.0401082797425	0.02173	0.1837378652742792	0.18292	0.0221077488576	0.02218	0.51305860281	0.40650	T	4.31E-4	0.00146	T	-0.476274	0.00778	T	-0.456233	0.27012	T	0.0495012634142112	0.05412	T	0.652235	0.26282	T	0.07199188	0.15981	0.08271769	0.18901	0.07199188	0.15981	0.08271769	0.18901	-3.281	0.13493	T	.	.	0.088	0.11893	B	.	.	2.405829	0.30914	18.58	0.65024537618163636	0.07656	0.67945	0.33618	D	AEFI	0.148263	0.27211	N	0.0459839042034965	0.43958	2.678706	0.195763041866058	0.49614	3.16252	0.00957297521984015	0.11878	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.83	0.61880	1.833000	0.38801	5.333000	0.48324	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.9068:0.0:0.0932:0.0	8.849	0.34348	425	0.81160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008097	0.005051	0.008197	0.005848	0.000000	0.008621	0.015432	0.007634	0.02632	1294.33	33	chr5	41067157	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.726;SOR=0.748	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1341	18	0	1	0
chr5	41912079	41912079	A	G	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon5:c.A497G:p.D166G	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.141740505776	7.7e-05	0.00139776	0.0014	0	8.729e-05	0	0	7.498e-05	0	0.0100	0.001216	188	154602	rs61744914	0.0007	0.0007	0.0004	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	3.023e-05	4.492e-05	0	2.534e-05	1.881e-05	0.0014	7.011e-05	0.0007	0.0105	0.0003	0.0003	0.0002	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	6.539e-05	0	0	0	0.0034	4.411e-05	0	0.0091	0.009	0.57480	D	0.01	0.65728	D	0.997	0.70673	D	0.942	0.67772	D	0.000004	0.62929	D	0.103713	0.997888	0.44285	D	1.955	0.52871	M	-1.66	0.82715	D	-5.06	0.82764	D	0.458	0.49511	0.222	0.86285	D	0.570	0.84449	D	10	0.013438582	0.00285	T	0.141741	0.82414	D	0.597	0.84019	.	.	0.905744803982	0.90480	0.42591299135429667	0.42508	0.655228097295	0.58571	.	.	.	0.207839	0.56760	T	-0.206272	0.19908	T	-0.0613961	0.66235	T	0.0779166287754213	0.09718	T	0.839216	0.51320	T	0.6461428	0.75158	0.6856589	0.81517	0.6461428	0.75159	0.6856589	0.81518	-4.069	0.24831	T	.	.	0.396	0.59358	A	.	.	4.794032	0.77832	26.8	0.99837217375800191	0.91800	0.99205	0.92781	D	AEFBI	0.841358	0.75856	D	0.634368448607305	0.75361	6.292265	0.677816803513492	0.80698	7.357025	0.999999995948019	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.81	5.81	0.92413	7.304000	0.78201	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.787	0.69435	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1922.33	35	chr5	41912079	.	A	G	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.344;DP=757;ExcessHet=0;FS=8.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.404;SOR=0.276	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1339	18	0	1	0
chr5	42800764	42800764	G	A	exonic	SELENOP	.	unknown	UNKNOWN	.	421	1067	34	0	0	34	0.0156827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0.0001	0.0080	0.0043	0.0044	0.0046	0.0035705	552	154602	rs28919926	0.0028	0.0028	0.0027	0.0030	0.0217	0.0028	0.0027	0.0186	0.0175	0.0007	0.0034	0.0064	7.573e-05	0.0070	0.0217	0.0024	0.0044	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0006	0	0.0023	0.0075	0.0004	0.0058	0.0170	0.0030	0.0057	0.0046	0.006	0.61437	D	0.132	0.34477	T	.	.	.	.	.	.	0.073420	0.02276	N	2.028310	1	0.81001	D	0	0.06538	N	1.86	0.24285	T	-0.63	0.18459	N	.	.	-1.0518	0.13899	T	0.039	0.16720	T	8	0.0053276718	0.00117	T	.	.	.	0.080	0.23350	.	.	0.158396225186	0.15383	.	.	0.100324673575	0.11338	0.265668272972	0.05585	T	0.037531	0.24508	T	-0.494787	0.00612	T	-0.48117	0.24322	T	0.019768452463333	0.00679	T	0.505449	0.15971	T	0.10461975	0.24733	0.035460327	0.02801	0.10461975	0.24732	0.035460327	0.02800	.	.	.	.	.	.	.	.	.;.;.	.;.;.	1.783662	0.22680	15.72	0.94161102198599023	0.24367	0.73568	0.35985	D	AEFDBHCI	.	.	.	-0.68612997493368	0.16416	0.8361846	-0.627432514982187	0.18789	1.005286	0.911769160048033	0.26376	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.620846	0.47308	0	.	.	5.78	2.02	0.25641	0.703000	0.25321	1.930000	0.29765	-0.858000	0.02657	0.940000	0.32642	0.993000	0.31925	0.003000	0.05239	0.1149:0.1398:0.3231:0.4222	2.206	0.03695	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018653	0.010101	0.016304	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	2881.83	44	chr5	42800764	.	G	A	2881.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.27;DP=852;ExcessHet=0.119;FS=1.065;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.13;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	17	0	2	0
chr5	42801077	42801077	C	T	exonic	SELENOP	.	unknown	UNKNOWN	.	417	1072	33	0	0	33	0.0151585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0023	0.00119808	0.0038	0.0005	0.0034	0	0.0080	0.0043	0.0045	0.0044	0.0035058	542	154602	rs146125471	0.0028	0.0028	0.0026	0.0030	0.0217	0.0028	0.0027	0.0186	0.0174	0.0006	0.0034	0.0064	5.038e-05	0.0070	0.0217	0.0024	0.0045	0.0046	0.0026	0.0026	0.0021	0.0031	0.0046	0.0024	0.0023	0.0031	0.0026	0.0005	0	0.0023	0.0075	0.0002	0.0058	0.0170	0.0030	0.0057	0.0046	0.258	0.16683	T	0.501	0.11153	T	.	.	.	.	.	.	0.002969	0.00929	N	4.932780	0.999997	0.08975	N	0.55	0.14455	N	1.98	0.21865	T	-0.12	0.10656	N	.	.	-1.0266	0.21560	T	0.032	0.13723	T	8	0.00429824	0.00086	T	.	.	.	0.043	0.11576	0.365	0.37199	0.0482279557977	0.04254	.	.	0.0781518737448	0.08793	0.238653287292	0.02670	T	0.037681	0.24563	T	-0.724005	0.00026	T	-0.810425	0.01656	T	0.00437265594384718	0.00047	T	0.377062	0.09013	T	0.044219453	0.07030	0.044099364	0.05638	0.044219453	0.07030	0.044099364	0.05637	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	0.286130	0.06629	3.123	0.87969429249463227	0.17617	0.10353	0.15883	N	AEFBHCI	0.177618	0.30486	N	-0.590136344076831	0.19243	1.005599	-0.650171381741476	0.18212	0.9719162	0.92380081443314	0.26756	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.64	2.34	0.28071	-0.045000	0.11957	-0.363000	0.09661	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1279:0.4232:0.2249:0.2241	2.094	0.03441	412	0.82007	Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;Selenoprotein P, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018135	0.005051	0.017663	0.017483	0.000000	0.034483	0.021341	0.011364	0.05263	3897.83	44	chr5	42801077	.	C	T	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=947;ExcessHet=0.119;FS=3.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.753;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	17	0	2	0
chr5	43292541	43292541	C	T	exonic	HMGCS1	.	nonsynonymous SNV	HMGCS1:NM_001324223:exon8:c.G1280A:p.R427H,HMGCS1:NM_001324219:exon9:c.G1406A:p.R469H,HMGCS1:NM_001324222:exon9:c.G1280A:p.R427H,HMGCS1:NM_001324224:exon9:c.G1280A:p.R427H,HMGCS1:NM_002130:exon9:c.G1406A:p.R469H,HMGCS1:NM_001098272:exon10:c.G1406A:p.R469H,HMGCS1:NM_001324220:exon10:c.G1406A:p.R469H,HMGCS1:NM_001330663:exon10:c.G1406A:p.R469H,HMGCS1:NM_001364188:exon10:c.G1406A:p.R469H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0325827302029	.	.	1.652e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs758162734	5.473e-06	5.472e-06	4.084e-06	6.876e-06	5.04e-05	2.35e-06	1.7e-06	8.35e-06	3.12e-06	0	2.237e-05	0	5.04e-05	0	0	4.497e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.036	0.43393	D	0.034	0.52727	D	0.008	0.14655	B	0.005	0.11217	B	0.000000	0.84330	D	0.049773	0.999999	0.58761	D	1.5	0.37844	L	-1.1	0.77336	T	-1.62	0.38924	N	0.242	0.27435	-0.5718	0.65943	T	0.340	0.70600	T	10	0.23952329	0.41094	T	0.032583	0.54372	D	0.293	0.61272	0.525	0.62967	0.639948015698	0.63697	0.5886589527023631	0.58795	0.104041796668	0.11770	0.514060258865	0.40790	T	0.472447	0.80472	T	-0.0730037	0.40846	T	-0.173513	0.57121	T	0.511849939823151	0.33066	D	0.893211	0.63049	D	0.22183475	0.44770	0.11716234	0.28283	0.22183475	0.44770	0.11716234	0.28282	-6.95	0.53668	T	.	.	0.105	0.19438	B	.;.	.;.	3.796241	0.54670	23.5	0.99853049601348254	0.93191	0.98984	0.89542	D	AEFGBI	0.779736	0.71185	D	0.0487683615259996	0.44085	2.689131	0.244715176172131	0.52349	3.410366	0.999999999999724	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	5.290000	0.65464	5.843000	0.50266	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.338	0.94312	363	0.84772	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	70.33	33	chr5	43292541	.	C	T	70.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.628;DP=737;ExcessHet=0;FS=88.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.27;SOR=6.592	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1469	18	0	1	0
chr5	43609332	43609332	C	T	exonic	NNT	.	nonsynonymous SNV	NNT:NM_012343:exon2:c.C137T:p.A46V,NNT:NM_182977:exon2:c.C137T:p.A46V	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0573848939952	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs759791282	1.095e-05	1.094e-05	8.17e-06	1.376e-05	5.042e-05	6.48e-06	5.25e-06	9.25e-06	4.56e-06	2.988e-05	0	0	5.042e-05	0	0	8.995e-06	0	3.482e-05	6.578e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.177	0.26192	T	0.047	0.48855	D	0.006	0.13644	B	0.001	0.04355	B	0.505633	0.11900	N	0.785067	1	0.81001	D	0.695	0.17993	N	-1.66	0.95595	D	-1.41	0.34795	N	0.253	0.28616	0.025	0.82755	D	0.702	0.89735	D	10	0.1656464	0.30955	T	0.057385	0.66945	D	0.191	0.46948	0.407	0.44066	0.701930974138	0.69935	0.6057453223996093	0.60505	0.278817494051	0.30363	0.314811438322	0.12635	T	0.029654	0.30451	T	0.0854698	0.62674	D	-0.115005	0.62210	T	0.271379560232162	0.23806	T	0.69643	0.30590	T	0.07144074	0.15816	0.09656764	0.22951	0.07144074	0.15816	0.09656764	0.22950	-1.726	0.02298	T	.	.	0.071	0.04041	B	.;.;.;.	.;.;.;.	2.815214	0.37074	20.4	0.99595576549441078	0.73866	0.95164	0.63673	D	AEFDBI	0.525419	0.54820	D	-0.252210074407485	0.31016	1.734984	-0.0385377562779179	0.37989	2.231973	0.999996524587446	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	4.82	0.61641	2.993000	0.49114	4.748000	0.44643	0.597000	0.34315	0.985000	0.35982	1.000000	0.68203	0.913000	0.44837	0.0:0.8555:0.1445:0.0	14.726	0.68962	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	934.33	40	chr5	43609332	.	C	T	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=799;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.562;SOR=1.076	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr5	50829904	50829904	A	G	exonic	PARP8	.	nonsynonymous SNV	PARP8:NM_001178056:exon21:c.A2050G:p.M684V,PARP8:NM_001331028:exon22:c.A2113G:p.M705V,PARP8:NM_024615:exon22:c.A2176G:p.M726V,PARP8:NM_001178055:exon23:c.A2176G:p.M726V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00670284399301	0.0015	0.000599042	0.0020	0.0006	0.0007	0	0	0.0022	0.0011	0.0048	0.0018887	292	154602	rs142626343	0.0018	0.0018	0.0016	0.0019	0.0059	0.0017	0.0017	0.0044	0.0041	0.0003	0.0008	0.0066	0	5.722e-05	0.0059	0.0016	0.0022	0.0046	0.0011	0.0011	0.0012	0.0010	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0	0.0012	0.0055	0	0	0.0068	0.0015	0.0014	0.0029	0.614	0.09155	T	0.834	0.06448	T	0.003	0.14184	B	0.003	0.14300	B	0.000000	0.84330	D	0.000000	0.99871	0.45323	D	0.025	0.08010	N	2.48	0.14657	T	-0.15	0.09297	N	0.33	0.41754	-1.0611	0.11483	T	0.030	0.12804	T	9	0.011712164	0.00255	T	0.006703	0.17699	T	0.143	0.38195	.	.	0.347217280506	0.34334	0.7629276205720856	0.76240	0.789451278895	0.65700	0.516240000725	0.41098	T	0.040763	0.25635	T	-0.451423	0.01108	T	-0.42081	0.30984	T	0.149053514003754	0.17027	T	0.768423	0.40183	T	0.18151607	0.39326	0.15985855	0.37261	0.18151607	0.39326	0.15985855	0.37261	-8.864	0.66817	D	.	.	0.084	0.15654	B	.;.;.;.;.	.;.;.;.;.	2.926809	0.38873	20.8	0.70433891668309978	0.09294	0.89685	0.50309	D	AEFGBI	0.256155	0.37513	N	-0.0689450619117559	0.38760	2.275142	0.128083347782333	0.45991	2.852609	0.978530087881916	0.29932	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	3.192000	0.50690	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.628	0.76629	699	0.57969	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.015152	0.02632	836.33	37	chr5	50829904	.	A	G	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.873;DP=717;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.05;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	18	0	1	0
chr5	51389708	51389708	A	T	exonic	ISL1	.	nonsynonymous SNV	ISL1:NM_002202:exon4:c.A541T:p.T181S	.	424	1094	4	0	0	4	0.00182482	.	.	.	2797948	ISL1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.46489656265	.	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001294	20	154602	rs200209474	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0007	3.827e-05	0	1.875e-05	0.0021	0.0001	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0012	0.0011	2.406e-05	0	0.0018	0	0	0	0	0.0002	0.0005	0	0.159	0.30800	T	0.432	0.13634	T	0.87	0.47827	P	0.542	0.48916	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.285	0.65182	M	-3.73	0.95458	D	-1.66	0.39692	N	0.414	0.45426	0.533	0.91006	D	0.785	0.92701	D	10	0.08828819	0.15187	T	0.464897	0.94578	D	0.415	0.72555	0.195	0.10705	0.82367983143	0.82201	0.573406871024595	0.57269	1.03888108303	0.75718	0.905664026737	0.97044	D	0.335681	0.70527	T	-0.0615673	0.42662	T	-0.020237	0.69013	D	0.0915610416887189	0.11402	T	0.818818	0.47619	T	0.2418684	0.47108	0.28264138	0.54253	0.2418684	0.47108	0.28264138	0.54252	-9.111	0.68408	D	.	.	0.552	0.70893	A	.;.	.;.	3.998628	0.58906	24.0	0.98279589134511136	0.39842	0.96368	0.68797	D	AEFDBCI	0.936266	0.93232	D	0.409159287360377	0.61926	4.400405	0.516686809775643	0.69111	5.314119	0.999999998032099	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	6.02	6.02	0.97559	7.462000	0.79890	11.189000	0.88595	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.549	0.84312	870	0.31527	Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1046.33	45	chr5	51389708	.	A	T	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.515;DP=746;ExcessHet=0;FS=1.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.924;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	18	0	1	0
chr5	52893732	52893732	A	C	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon9:c.A982C:p.K328Q	.	438	1053	29	2	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	0.0014	0.00159744	0.0033	0.0002	0.0007	0.0002	0	0.0022	0.0033	0.0147	0.002859	442	154602	rs150009527	0.0020	0.0020	0.0015	0.0025	0.0149	0.0019	0.0019	0.0142	0.0139	0.0001	0.0004	0.0292	2.524e-05	0	0.0066	0.0005	0.0035	0.0149	0.0015	0.0015	0.0013	0.0017	0.0114	0.0013	0.0013	0.0090	0.0081	0.0003	0	0.0005	0.0291	0.0004	0	0	0.0006	0.0028	0.0114	0.086	0.32610	T	0.213	0.26467	T	0.116	0.26475	B	0.167	0.35118	B	0.000071	0.52346	D	0.168708	0.997134	0.43655	D	0.845	0.21182	L	-1.72	0.83241	D	-2.82	0.59545	D	0.186	0.20262	-0.4076	0.71787	T	0.403	0.75388	T	10	0.008489013	0.00192	T	.	.	.	0.277	0.59375	.	.	0.814982974235	0.81323	0.7904183510822229	0.78993	0.181561313923	0.20410	0.363239347935	0.19856	T	0.493714	0.81715	T	-0.419428	0.01725	T	-0.362282	0.37787	T	0.0276256007752138	0.01633	T	0.889211	0.62120	D	0.71762663	0.79030	0.43571326	0.67048	0.71762663	0.79031	0.43571326	0.67048	-9.296	0.69582	D	.	.	0.121	0.25034	B	.	.	3.379304	0.46730	22.3	0.98850089377460615	0.47271	0.88584	0.48580	D	AEBI	0.654059	0.62687	D	-0.108549905968052	0.37020	2.147875	0.052388413383367	0.42188	2.547394	0.999813034824553	0.43459	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.7	4.53	0.55009	2.859000	0.48063	6.987000	0.57147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.866:0.134:0.0:0.0	13.075	0.58496	715	0.56137	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.014620	0.000000	0.008621	0.009146	0.007576	0.05263	2956.83	35	chr5	52893732	.	A	C	2956.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=821;ExcessHet=0.119;FS=7.683;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.721;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	17	0	2	0
chr5	52918874	52918874	A	G	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon16:c.A2131G:p.K711E	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00570558968817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256608619	4.147e-06	4.104e-06	4.122e-06	4.172e-06	2.432e-05	1.49e-06	9.8e-07	4.04e-06	1.51e-06	0	0	0	0	0	0	3.612e-06	0	2.432e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	0.949	0.02624	T	0.629	0.40170	P	0.326	0.41929	B	0.027840	0.25696	N	0.471963	0.551645	0.32138	D	2.28	0.64929	M	0.89	0.45636	T	-1.07	0.27876	N	0.254	0.28732	-0.9903	0.32525	T	0.076	0.30553	T	10	0.26649776	0.44155	T	0.005706	0.14772	T	0.087	0.25287	0.392	0.41606	0.594763190098	0.59155	0.4809823666585849	0.48018	0.379006366498	0.39307	0.523798108101	0.42161	T	0.067601	0.33244	T	-0.0509127	0.44307	T	-0.310909	0.43559	T	0.50417560338974	0.32782	D	0.775222	0.40690	T	0.15754578	0.35494	0.14444445	0.34293	0.15754578	0.35493	0.14444445	0.34292	-8.833	0.66615	D	.	.	0.075	0.05668	B	.	.	2.918952	0.38741	20.8	0.99716763960713561	0.81773	0.79860	0.39658	D	AEFI	0.408362	0.48007	N	0.0922065738163957	0.46098	2.855645	0.226681238711263	0.51332	3.31675	0.81345949615901	0.24396	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.106000	0.50013	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9263:0.0:0.0737:0.0	10.303	0.42842	713	0.56348	Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	34	chr5	52918874	.	A	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.481;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.76;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr5	52945020	52945020	C	A	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon27:c.C3363A:p.S1121R	.	444	1057	20	1	0	22	0.0102996	.	.	.	721474	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.064	.	0.0057	0.00539137	0.0072	0.0012	0.0019	0.0019	0.0127	0.0084	0.0121	0.0102	0.0072056	1114	154602	rs151102756	0.0082	0.0082	0.0080	0.0083	0.0098	0.0080	0.0080	0.0092	0.0090	0.0013	0.0020	0.0023	0.0008	0.0120	0.0052	0.0088	0.0062	0.0098	0.0058	0.0058	0.0057	0.0059	0.0102	0.0055	0.0054	0.0083	0.0081	0.0018	0	0.0012	0.0020	0.0012	0.0108	0	0.0089	0.0038	0.0102	0.208	0.19782	T	0.045	0.49390	D	0.136	0.27347	B	0.017	0.18140	B	0.041512	0.23942	N	0.515513	0.859682	0.28374	N	1.1	0.28011	L	0.79	0.49068	T	-0.81	0.22294	N	0.22	0.24634	-1.1030	0.03747	T	0.039	0.16634	T	10	0.005416006	0.00119	T	.	.	.	0.064	0.18567	0.354	0.35408	0.498259528926	0.49460	0.44795778726247065	0.44713	0.184186325535	0.20715	0.357897281647	0.19079	T	0.054622	0.29777	T	-0.545348	0.00311	T	-0.54817	0.17501	T	0.0266211991136167	0.01491	T	0.652235	0.26282	T	0.07397097	0.16567	0.05098772	0.08114	0.07397097	0.16567	0.05098772	0.08113	-4.82	0.34823	T	.	.	0.217	0.44745	B	.	.	2.001094	0.25425	16.76	0.98561422426639278	0.42986	0.18904	0.20449	N	AEFDBI	0.104861	0.20969	N	-0.54948648376452	0.20500	1.081116	-0.432061412372852	0.24062	1.315583	0.999592032345798	0.40745	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.404113	0.06833	1	.	.	5.63	0.424	0.15684	-0.165000	0.09957	0.386000	0.17834	0.599000	0.40250	0.945000	0.32849	0.993000	0.31925	0.997000	0.79791	0.2824:0.337:0.1371:0.2434	0.543	0.00605	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.008152	0.008772	0.000000	0.000000	0.015244	0.015152	0.05263	2658.83	33	chr5	52945020	.	C	A	2658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=830;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.98;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	17	0	2	0
chr5	53048657	53048657	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon6:c.A517G:p.I173V	.	0	1487	33	2	0	37	0.0122883	.	.	.	299875	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00869945483086	0.0027	0.00239617	0.0032	0.0009	0.0021	0	0	0.0031	0.0055	0.0086	0.0030013	464	154602	rs55973669	0.0029	0.0029	0.0026	0.0033	0.0099	0.0029	0.0028	0.0093	0.0091	0.0004	0.0031	0.0047	2.519e-05	0.0003	0.0099	0.0026	0.0031	0.0098	0.0026	0.0026	0.0024	0.0028	0.0083	0.0024	0.0023	0.0063	0.0056	0.0007	0.0066	0.0069	0.0055	0.0002	9.461e-05	0.0068	0.0026	0.0043	0.0083	0.263	0.16412	T	0.207	0.26969	T	.	.	.	.	.	.	0.000001	0.62929	N	0.098626	0.94738	0.37566	D	.	.	.	0.59	0.53943	T	-0.25	0.11008	N	0.12	0.11054	-1.0351	0.18825	T	0.057	0.24018	T	10	0.00892508	0.00202	T	0.008699	0.22976	T	0.077	0.22490	.	.	0.594311586281	0.59109	0.286997681205675	0.28612	0.143906014604	0.16252	0.31325045228	0.12398	T	.	.	.	-0.542054	0.00326	T	-0.544719	0.17836	T	0.00466965039524367	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	1.849660	0.23498	16.04	0.98223612721775777	0.39325	0.96449	0.69194	D	AEFBI	0.335782	0.43411	N	-0.468449192676952	0.23120	1.239301	-0.27737536356029	0.28844	1.61147	0.999168070309967	0.38622	0.732398	0.92422	0	0.59043	0.45803	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.28	2.93	0.33092	4.018000	0.56886	4.046000	0.41467	0.756000	0.94297	0.999000	0.42656	0.998000	0.33993	0.973000	0.55318	0.7856:0.0:0.2144:0.0	8.515	0.32403	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.010101	0.002717	0.005848	0.000000	0.008621	0.018293	0.007576	0.02632	1316.33	33	chr5	53048657	.	A	G	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.031;DP=738;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.24;SOR=0.524	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1423	18	0	1	0
chr5	53056008	53056008	G	A	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon9:c.G955A:p.A319T	.	47	1473	2	0	0	2	0.000678426	.	.	.	304417	not_provided|Platelet-type_bleeding_disorder_9	MedGen:C3661900|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	.	0.0008	0.013778	0.0079	0.0010	0.0775	0	0	0.0005	0.0056	0.0007	0.0080335	1242	154602	rs41272301	0.0030	0.0030	0.0033	0.0027	0.0776	0.0029	0.0029	0.0754	0.0746	0.0008	0.0776	0	2.53e-05	0	0.0002	0.0005	0.0036	0.0008	0.0073	0.0074	0.0062	0.0085	0.0650	0.0070	0.0068	0.0616	0.0603	0.0013	0	0.0650	0	0.0002	0	0	0.0006	0.0104	0.0004	0.409	0.10180	T	0.278	0.21812	T	.	.	.	.	.	.	0.008681	0.30726	N	0.372687	0.981482	0.25036	N	.	.	.	0.57	0.54347	T	-0.3	0.11913	N	0.052	0.02366	-1.0691	0.09612	T	0.012	0.04605	T	10	0.0021493435	0.00031	T	.	.	.	0.059	0.16972	.	.	.	.	0.5852904750464311	0.58458	0.165736933584	0.18703	0.398537635803	0.24864	T	.	.	.	-0.626904	0.00100	T	-0.615754	0.11521	T	0.00454725411117018	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29060	B	.	.	2.306537	0.29522	18.15	0.92684560638737179	0.22171	0.77026	0.37828	D	AEFBI	0.089287	0.18097	N	-0.467803912191801	0.23140	1.240608	-0.360165405693877	0.26197	1.445372	0.929779523906181	0.26981	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.73	2.68	0.30839	2.562000	0.45576	4.272000	0.42850	-0.154000	0.11915	0.994000	0.38300	0.997000	0.33255	0.835000	0.39381	0.1448:0.0:0.5937:0.2615	6.065	0.19083	869	0.31655	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	339.33	15	chr5	53056008	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.712;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,991	18	0	1	0
chr5	53083349	53083349	A	T	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon27:c.A3154T:p.T1052S	.	11	1495	16	0	0	16	0.00532269	.	.	.	304110	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.038	0.0100717527135	0.0018	0.00119808	0.0017	0.0003	0.0011	0	0.0002	0.0015	0.0011	0.0052	0.0016559	256	154602	rs150997093	0.0015	0.0015	0.0013	0.0017	0.0101	0.0014	0.0014	0.0080	0.0073	0.0002	0.0010	0.0053	0	0.0002	0.0101	0.0012	0.0020	0.0049	0.0013	0.0013	0.0012	0.0014	0.0035	0.0011	0.0011	0.0022	0.0018	0.0004	0	0.0012	0.0046	0	0.0002	0.0034	0.0017	0.0038	0.0035	0.308	0.14111	T	0.711	0.05506	T	.	.	.	.	.	.	0.000528	0.43581	D	0.222198	0.835462	0.28703	N	.	.	.	0.86	0.46777	T	0.12	0.05604	N	0.117	0.10626	-1.0329	0.19522	T	0.067	0.27606	T	10	0.007706195	0.00175	T	0.010072	0.26169	T	0.038	0.09825	0.435	0.48664	0.789854212453	0.78790	0.43204601794977227	0.43121	0.154822667807	0.17480	0.395790934563	0.24483	T	.	.	.	-0.551257	0.00287	T	-0.563665	0.16034	T	0.0125553680293446	0.00208	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	1.568344	0.20082	14.58	0.95467588244027402	0.27011	0.93699	0.58939	D	AEFDBI	0.237835	0.36005	N	-0.363103645771931	0.26794	1.465058	-0.185448689973304	0.32070	1.820975	0.999992556846656	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.95	4.79	0.60909	3.155000	0.50398	3.448000	0.38427	0.756000	0.94297	0.999000	0.42656	0.967000	0.29559	0.530000	0.29707	0.9259:0.0:0.0741:0.0	10.852	0.45983	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.005102	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	764.33	33	chr5	53083349	.	A	T	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=721;ExcessHet=0;FS=2.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.083;SOR=0.451	GT:AD:DP:GQ:PL	0/1:77,36:113:99:778,0,2094	18	0	1	0
chr5	53483680	53483680	G	C	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon3:c.G454C:p.E152Q,FST:NM_013409:exon3:c.G454C:p.E152Q	.	425	1080	16	1	0	18	0.00826446	.	.	.	721476	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	0.0241769684911	0.0059	0.00179712	0.0045	0.0008	0.0010	0	0.0089	0.0067	0.0033	0.0007	0.0043919	679	154602	rs11745088	0.0056	0.0056	0.0058	0.0055	0.0063	0.0055	0.0055	0.0062	0.0062	0.0005	0.0015	0.0051	2.519e-05	0.0110	0.0061	0.0063	0.0052	0.0006	0.0043	0.0043	0.0044	0.0041	0.0063	0.0040	0.0039	0.0058	0.0056	0.0006	0	0.0021	0.0052	0.0002	0.0119	0.0136	0.0063	0.0043	0.0002	0.464	0.09514	T	0.37	0.16473	T	0.348	0.33602	B	0.147	0.34014	B	0.000000	0.84330	D	0.047074	0.999996	0.58761	D	-0.465	0.02725	N	3.71	0.04046	T	0.13	0.05503	N	0.286	0.32370	-0.7316	0.58882	T	0.007	0.02399	T	10	0.0072375834	0.00165	T	0.024177	0.47165	T	0.249	0.55752	.	.	0.514671000977	0.51109	0.4039563713797913	0.40311	1.09766738397	0.77629	0.51988941431	0.41611	T	0.202543	0.56075	T	-0.506073	0.00528	T	-0.494869	0.22882	T	0.0576691014953399	0.06797	T	0.784922	0.77539	T	0.41348022	0.61655	0.35712525	0.61211	0.41348022	0.61656	0.35712525	0.61211	-3.422	0.15395	T	.	.	0.1	0.17146	B	.;.;.	.;.;.	3.520150	0.49340	22.8	0.98722578926768989	0.45230	0.99252	0.93473	D	AEFDBCI	0.960724	0.98167	D	0.0491711700034256	0.44105	2.690619	0.280021017350146	0.54374	3.602582	1.0	0.98316	0.660085	0.49399	0	0.563428	0.19063	0	0.662677	0.59975	0	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	9.757000	0.98114	9.862000	0.82064	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.970	0.97283	852	0.35056	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.010101	0.006793	0.011696	0.000000	0.000000	0.006098	0.007576	0.05263	2404.83	33	chr5	53483680	.	G	C	2404.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.68;DP=802;ExcessHet=0.119;FS=2.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.576;SOR=0.88	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	17	0	2	0
chr5	53484153	53484153	G	A	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon4:c.G581A:p.R194Q,FST:NM_013409:exon4:c.G581A:p.R194Q	.	437	1081	4	0	0	4	0.00184672	.	.	.	721477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.351	.	0.0014	0.000998403	0.0024	0.0004	0.0010	0.0002	0.0171	0.0020	0.0044	0.0017	0.0021604	334	154602	rs150492112	0.0020	0.0020	0.0020	0.0021	0.0019	0.0020	0.0020	0.0017	0.0016	0.0003	0.0011	0.0015	2.519e-05	0.0151	0.0003	0.0016	0.0015	0.0019	0.0025	0.0025	0.0018	0.0032	0.0017	0.0023	0.0022	0.0014	0.0013	0.0004	0	0.0016	0.0020	0.0004	0.0190	0	0.0017	0.0028	0.0012	0.129	0.26852	T	0.025	0.65728	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.08	0.27187	L	1.5	0.31205	T	-1.05	0.29525	N	0.458	0.49511	-1.0872	0.06013	T	0.109	0.39415	T	10	0.007940471	0.00180	T	.	.	.	0.351	0.67234	.	.	0.803029983951	0.80118	0.7647035607185428	0.76419	1.18424234959	0.80093	0.677450060844	0.63903	T	0.381337	0.74367	T	-0.185645	0.22900	T	-0.04561	0.67322	D	0.0290403871397717	0.01844	T	0.950905	0.81262	D	0.63182575	0.74396	0.42682445	0.66446	0.63182575	0.74397	0.42682445	0.66447	-4.782	0.34380	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	4.859992	0.79517	27.1	0.99952073061630431	0.99951	0.96572	0.69812	D	AEFDBCI	0.892215	0.82893	D	0.703954662704679	0.79891	7.174713	0.756866624882122	0.86669	8.963951	1.0	0.98316	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.663205	0.64265	0	.	.	6.17	6.17	0.99707	6.827000	0.75095	9.893000	0.82289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	856	0.34373	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1907.33	33	chr5	53484153	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=749;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.631;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	18	0	1	0
chr5	54985490	54985490	G	A	exonic	ESM1	.	nonsynonymous SNV	ESM1:NM_001135604:exon1:c.C28T:p.L10F,ESM1:NM_007036:exon1:c.C28T:p.L10F	.	430	1087	4	1	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0029	0.00499201	0.0020	0.0086	0.0046	0	0	0.0013	0.0059	0.0008	0.0018758	290	154602	rs142082865	0.0012	0.0012	0.0012	0.0012	0.0204	0.0012	0.0011	0.0174	0.0163	0.0069	0.0041	0.0082	2.541e-05	1.894e-05	0.0204	0.0007	0.0030	0.0008	0.0031	0.0031	0.0033	0.0029	0.0076	0.0029	0.0028	0.0069	0.0066	0.0076	0	0.0035	0.0115	0	0	0.0068	0.0008	0.0043	0.0004	0.091	0.31834	T	0.129	0.34837	T	0.289	0.32288	B	0.048	0.24975	B	0.000200	0.48115	D	0.142736	0.999981	0.54805	D	2.405	0.69568	M	.	.	.	-1.22	0.31170	N	0.292	0.33030	-0.8378	0.52793	T	0.153	0.48188	T	9	0.0085989535	0.00195	T	.	.	.	0.077	0.22490	.	.	0.184867976434	0.18130	0.5334456563168988	0.53269	1.61682442182	0.89012	0.40306198597	0.25495	T	0.041605	0.25913	T	-0.33942	0.05429	T	-0.256325	0.49189	T	0.0155705211096394	0.00355	T	0.764923	0.39208	T	0.08280162	0.19091	0.10984461	0.26479	0.08280162	0.19091	0.10984461	0.26478	-4.998	0.38666	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	3.059747	0.41082	21.3	0.93920670122301297	0.23962	0.88168	0.47977	D	ALL	0.666670	0.63505	D	0.0497301230809387	0.44130	2.692704	0.128089132141046	0.45991	2.852636	0.999999999999905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	5.66	4.78	0.60666	4.417000	0.59573	7.337000	0.58231	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.142:0.0:0.858:0.0	11.108	0.47437	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027190	0.060606	0.027174	0.052632	0.050000	0.025862	0.000000	0.003788	0.02632	638.33	34	chr5	54985490	.	G	A	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=683;ExcessHet=0;FS=4.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.132;SOR=0.259	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr5	55283210	55283210	C	G	exonic	DHX29	.	nonsynonymous SNV	DHX29:NM_019030:exon11:c.G1958C:p.G653A	.	430	1090	2	0	0	2	0.00091659	.	.	.	3953108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0845922924192	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001229	19	154602	rs201311659	7.961e-05	8.277e-05	6.63e-05	9.322e-05	0.0004	6.737e-05	6.27e-05	6.626e-05	6.179e-05	0	6.986e-05	0	0	3.843e-05	0.0004	8.041e-05	0.0002	9.826e-05	8.541e-05	8.536e-05	3.854e-05	0.0001	0.0001	4.957e-05	3.962e-05	6.803e-05	5.087e-05	0	0.0011	6.545e-05	0	0	0.0002	0	0.0001	0	0	0.018	0.50676	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	3.17	0.07599	T	-2.68	0.57275	D	0.699	0.73826	-0.9049	0.47458	T	0.031	0.13504	T	10	0.5942275	0.66550	D	0.084592	0.74358	D	0.420	0.72930	.	.	0.498259528926	0.49460	0.6804701089644118	0.67986	0.905589862971	0.70831	0.547196209431	0.45462	T	0.163722	0.50890	T	-0.10188	0.36113	T	-0.0892847	0.64216	T	0.562370181083679	0.34944	D	0.924508	0.72366	D	0.42536953	0.62447	0.37476262	0.62635	0.42536953	0.62448	0.37476262	0.62635	-9.783	0.72601	D	.	.	0.384	0.61290	A	.;.	.;.	4.609307	0.73081	25.9	0.99835345909757511	0.91628	0.99502	0.96805	D	AEFDGBI	0.883486	0.81244	D	0.573305150958809	0.71512	5.662177	0.654232072614421	0.78924	6.97566	0.999999999983705	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.539000	0.80984	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.975	0.89046	491	0.76657	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2466.33	33	chr5	55283210	.	C	G	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=807;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.447;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	18	0	1	0
chr5	55691189	55691189	C	T	exonic	SLC38A9	.	nonsynonymous SNV	SLC38A9:NM_001258287:exon2:c.G32A:p.R11Q	.	435	1084	3	0	0	3	0.00138185	0.0001	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00339457	0.0059	0	0	0	0	0.0003	0.0076	0.0093	0.0005951	92	154602	rs369352002	0.0009	0.0006	0.0005	0.0012	0.0091	0.0008	0.0008	0.0084	0.0082	5.413e-05	5.735e-05	0	0	0	0.0002	8.734e-06	0.0007	0.0091	0.0004	0.0004	0.0002	0.0007	0.0118	0.0003	0.0003	0.0094	0.0085	7.222e-05	0	6.541e-05	0	0	0	0	2.94e-05	0.0005	0.0118	0.01	0.56456	D	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.14	0.38397	T	-0.68	0.19509	N	0.118	0.10769	-1.0450	0.15825	T	0.068	0.27980	T	7	0.007926911	0.00180	T	.	.	.	0.111	0.31313	0.589	0.71749	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.65254	0.00070	T	-0.703991	0.05610	T	0.017870317766623	0.00514	T	0.407759	0.10493	T	.	.	.	.	.	.	.	.	-3.77	0.20357	T	.	.	0.177	0.38693	B	.	.	0.221779	0.06040	2.482	0.97479543025210413	0.34183	0.01220	0.04328	N	AEFBI	0.110538	0.21916	N	-0.907434038785117	0.10667	0.5108523	-1.10990290002638	0.07510	0.365601	0.988572101044222	0.31561	0.57788	0.32782	0	0.593476	0.48661	0	0.475579	0.07313	0	0.613276	0.41899	0	.	.	3.39	-0.437	0.11659	0.132000	0.15716	0.167000	0.15474	-2.377000	0.00301	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4087:0.4116:0.0:0.1797	4.828	0.12789	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	53	chr5	55691189	.	C	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=837;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.644;SOR=0.909	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr5	55910570	55910570	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon12:c.G1483A:p.E495K,IL31RA:NM_001242637:exon12:c.G1540A:p.E514K,IL31RA:NM_139017:exon12:c.G1540A:p.E514K,IL31RA:NM_001242639:exon13:c.G1114A:p.E372K,IL31RA:NM_001242638:exon14:c.G1483A:p.E495K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0300446041285	0.0012	0.00179712	0.0009	0.0034	0.0029	0	0	0.0006	0.0022	0.0002	0.0009185	142	154602	rs113369650	0.0007	0.0007	0.0007	0.0007	0.0111	0.0006	0.0006	0.0089	0.0081	0.0031	0.0039	3.826e-05	0	0	0.0111	0.0005	0.0022	0.0002	0.0016	0.0016	0.0017	0.0016	0.0041	0.0015	0.0014	0.0033	0.0030	0.0033	0	0.0041	0	0	0	0.0170	0.0005	0.0047	0.0002	0.029	0.45756	D	0.0	0.92824	D	0.884	0.48618	P	0.54	0.48825	P	0.108006	0.19545	N	0.554060	0.94322	0.26728	N	.	.	.	0.41	0.57100	T	-1.65	0.39503	N	0.113	0.16586	-0.8852	0.49340	T	0.183	0.53148	T	10	0.0093584955	0.00211	T	0.030045	0.52439	D	0.202	0.48754	.	.	0.301455362545	0.29754	.	.	0.154396533391	0.17441	0.350457757711	0.17989	T	.	.	.	-0.456271	0.01036	T	-0.430284	0.29903	T	0.0214538987493933	0.00849	T	0.79572	0.44511	T	.	.	.	.	.	.	.	.	-5.377	0.41709	T	.	.	0.104	0.22171	B	.;.;.;.;.;.	.;.;.;.;.;.	2.576199	0.33391	19.33	0.99844243310187597	0.92403	0.63633	0.32150	D	AEFBI	0.084891	0.17208	N	0.126231928112726	0.47689	2.99111	0.0786502570247455	0.43475	2.648606	0.997263515537457	0.35436	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.01	3.2	0.35826	2.264000	0.42959	3.147000	0.36508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.763000	0.36255	0.1802:0.1713:0.6485:0.0	5.214	0.14653	891	0.26808	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.035354	0.014946	0.014620	0.050000	0.034483	0.000000	0.003788	0.02632	877.33	33	chr5	55910570	.	G	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=726;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.184;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1356	18	0	1	0
chr5	55916796	55916796	A	-	exonic	IL31RA	.	frameshift deletion	IL31RA:NM_001242636:exon15:c.1914delA:p.T639Rfs*7,IL31RA:NM_001242637:exon15:c.1971delA:p.T658Rfs*7,IL31RA:NM_139017:exon15:c.1971delA:p.T658Rfs*7,IL31RA:NM_001242639:exon16:c.1545delA:p.T516Rfs*7,IL31RA:NM_001242638:exon17:c.1914delA:p.T639Rfs*7	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2023.29	49	chr5	55916795	.	GA	G	2023.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.904;DP=879;ExcessHet=0;FS=4.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.879;SOR=0.413	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr5	55941604	55941604	A	C	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon15:c.T1239G:p.D413E,IL6ST:NM_001190981:exon16:c.T2052G:p.D684E,IL6ST:NM_001364275:exon16:c.T2133G:p.D711E,IL6ST:NM_001364278:exon16:c.T1332G:p.D444E,IL6ST:NM_001364276:exon17:c.T2025G:p.D675E,IL6ST:NM_001364277:exon17:c.T1368G:p.D456E,IL6ST:NM_002184:exon17:c.T2235G:p.D745E	.	431	1081	10	0	0	10	0.00460405	.	.	.	1136937	IL6ST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.0118818533168	0.0050	0.000998403	0.0029	0.0008	0.0034	0	0.0012	0.0034	0.0044	0.0036	0.0027878	431	154602	rs61755738	0.0042	0.0042	0.0042	0.0042	0.0047	0.0041	0.0041	0.0046	0.0046	0.0007	0.0032	0.0019	2.519e-05	0.0011	0.0019	0.0047	0.0041	0.0038	0.0024	0.0024	0.0025	0.0023	0.0039	0.0022	0.0021	0.0035	0.0034	0.0009	0	0.0025	0.0009	0	0.0007	0.0034	0.0039	0.0028	0.0021	0.345	0.17353	T	0.212	0.26549	T	0.525	0.37610	P	0.129	0.32841	B	0.003931	0.34318	N	0.352841	0.999099	0.81001	D	1.325	0.33218	L	1.32	0.39401	T	-1.01	0.26639	N	0.045	0.12198	-1.0712	0.09151	T	0.028	0.11882	T	10	0.006159216	0.00139	T	0.011882	0.29939	T	0.068	0.19811	0.139	0.04277	0.625713890362	0.62266	0.2598649425074459	0.25900	0.122682330703	0.13825	0.577899098396	0.49789	T	0.18645	0.53974	T	-0.608163	0.00130	T	-0.642356	0.09498	T	0.00898770000141586	0.00112	T	0.669833	0.27843	T	0.028226212	0.02129	0.026739433	0.00781	0.028226212	0.02129	0.026739433	0.00780	-1.527	0.01979	T	.	.	0.081	0.25265	B	.;.;.;.	.;.;.;.	1.694308	0.21587	15.26	0.98082082334462573	0.38117	0.81893	0.41208	D	AEFGBI	0.293698	0.40426	N	-0.463917804080909	0.23270	1.248455	-0.3801410284856	0.25589	1.408195	0.997645607726979	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.4	-1.22	0.09005	0.236000	0.17745	0.555000	0.19457	0.750000	0.87069	0.963000	0.33788	0.931000	0.28545	0.999000	0.91618	0.4815:0.227:0.1866:0.1049	1.990	0.03235	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	3739.33	34	chr5	55941604	.	A	C	3739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=900;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.156;QD=14.11;ReadPosRankSum=0.116;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	18	0	1	0
chr5	56111706	56111706	G	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon10:c.C1042A:p.Q348K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0094878129177	.	0.000399361	5.422e-05	0	0	0	0	0	0	0.0007	5.17e-05	8	154602	rs551715515	2.847e-05	2.942e-05	1.434e-05	4.313e-05	0.0005	2.132e-05	1.872e-05	0.0004	0.0003	0	0	0	0	0	0	0	7.093e-05	0.0005	3.942e-05	3.938e-05	3.857e-05	4.031e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.006	0.61437	D	0.029	0.55759	D	.	.	.	.	.	.	0.000601	0.43095	D	0.157726	0.999405	0.47544	D	2.32	0.66415	M	1.27	0.40218	T	-0.53	0.49846	N	0.171	0.44379	-1.0034	0.28933	T	0.158	0.49076	T	10	0.04877746	0.04375	T	0.009488	0.24855	T	0.116	0.32463	.	.	0.400468435593	0.39662	0.46977584308820625	0.46896	0.492894575392	0.47914	0.422169834375	0.28135	T	0.010057	0.09113	T	-0.225616	0.17233	T	-0.210139	0.53683	T	0.232345687852518	0.22062	T	0.854015	0.57909	D	0.26539057	0.49608	0.25556707	0.51242	0.26539057	0.49608	0.25556707	0.51241	-0.61	0.01285	T	.	.	0.093	0.31151	B	.;.;.	.;.;.	2.904428	0.38503	20.8	0.99263263036838767	0.57289	0.85225	0.44339	D	AEFBHCI	0.591323	0.58747	D	0.431014495448309	0.63136	4.541521	0.499481935875944	0.67957	5.154021	0.999999999983484	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	4.320000	0.58993	11.662000	0.93998	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	19.789	0.96446	313	0.87327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.33	35	chr5	56111706	.	G	T	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.353;DP=1529;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.766;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	18	0	1	0
chr5	56116745	56116745	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon9:c.G835A:p.E279K	.	424	1087	10	1	0	12	0.00548948	.	.	.	709950	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.160	.	0.0080	0.00359425	0.0081	0.0020	0.0025	0	0.0171	0.0118	0.0115	0.0012	0.0077813	1203	154602	rs146546015	0.0091	0.0091	0.0093	0.0090	0.0093	0.0090	0.0089	0.0092	0.0091	0.0011	0.0035	0.0410	0.0003	0.0178	0.0081	0.0093	0.0091	0.0013	0.0081	0.0081	0.0080	0.0083	0.0097	0.0078	0.0076	0.0090	0.0088	0.0017	0.0252	0.0092	0.0357	0.0002	0.0194	0.0034	0.0097	0.0052	0.0012	0.089	0.32141	T	0.073	0.53426	T	.	.	.	.	.	.	0.015565	0.28211	N	0.313144	0.99937	0.81001	D	.	.	.	-0.36	0.68754	T	-1.05	0.46146	N	0.32	0.43320	-0.6756	0.61575	T	0.161	0.49681	T	10	0.008954018	0.00203	T	.	.	.	0.160	0.41473	.	.	0.589992848803	0.58675	0.4629190109213392	0.46210	0.434977982388	0.43618	0.545623660088	0.45239	T	0.009687	0.24696	T	-0.497162	0.00593	T	-0.479096	0.24542	T	0.017381052349783	0.00476	T	0.914708	0.70062	D	0.15990183	0.35894	0.14499782	0.34405	0.15990183	0.35894	0.14499782	0.34404	-11.124	0.80333	D	.	.	0.106	0.31633	B	.;.	.;.	3.980393	0.58511	24.0	0.99930859821828233	0.99334	0.87164	0.46621	D	ALL	0.739614	0.68411	D	0.297304085304292	0.56011	3.765373	0.400912653038582	0.61621	4.364883	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.52698	0.09003	0	.	.	5.3	5.3	0.74745	5.008000	0.63746	4.736000	0.44580	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.689000	0.33808	0.0:1.0:0.0:0.0	19.003	0.92820	305	0.87738	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.015152	0.002717	0.011696	0.100000	0.000000	0.006098	0.000000	0.02632	787.33	33	chr5	56116745	.	C	T	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=684;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.42;SOR=0.293	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr5	56911458	56911458	T	C	exonic	SETD9	.	nonsynonymous SNV	SETD9:NM_001171990:exon2:c.T388C:p.S130P,SETD9:NM_001323018:exon2:c.T310C:p.S104P,SETD9:NM_001323019:exon2:c.T388C:p.S130P,SETD9:NM_001323020:exon2:c.T310C:p.S104P,SETD9:NM_153706:exon2:c.T388C:p.S130P	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0209469799856	.	.	3.356e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs750367282	2.745e-05	2.941e-05	1.638e-05	3.864e-05	0.0002	2.069e-05	1.822e-05	0.0002	0.0001	0	4.59e-05	0	0	0	0.0002	1.261e-05	4.983e-05	0.0002	2.628e-05	2.627e-05	0	5.38e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.006	0.61437	D	0.008	0.69154	D	0.998	0.73220	D	0.938	0.67350	D	0.000004	0.62929	D	0.064527	0.999478	0.47197	D	2.79	0.81396	M	1.31	0.35405	T	-3.18	0.64478	D	0.55	0.59223	-0.7809	0.56252	T	0.190	0.54227	T	10	0.47575158	0.60132	T	0.020947	0.43640	T	0.251	0.56024	.	.	0.561332866315	0.55795	0.7166894168746345	0.71611	0.631749493559	0.57118	0.424542427063	0.28462	T	0.26198	0.63351	T	-0.129305	0.31609	T	-0.159086	0.58434	T	0.720199048519135	0.41709	D	0.741726	0.36078	T	0.686959	0.77346	0.63668424	0.78786	0.686959	0.77347	0.63668424	0.78787	-9.51	0.71269	D	.	.	0.540	0.69354	A	.;.	.;.	4.080832	0.60700	24.2	0.99870194081180252	0.94815	0.93546	0.58512	D	AEFBCI	0.750789	0.69180	D	0.436952451056007	0.63466	4.580969	0.365052045804425	0.59419	4.119597	0.999998879686168	0.74766	0.653281	0.48532	0	0.627608	0.54475	0	0.696353	0.63694	0	0.669	0.65921	0	.	.	5.17	3.99	0.45527	2.868000	0.48134	4.839000	0.45267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.1349:0.0:0.0:0.8651	11.450	0.49392	932	0.16191	SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	904.33	41	chr5	56911458	.	T	C	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=810;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.052;SOR=0.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr5	56911480	56911480	G	T	exonic	SETD9	.	nonsynonymous SNV	SETD9:NM_001171990:exon2:c.G410T:p.G137V,SETD9:NM_001323018:exon2:c.G332T:p.G111V,SETD9:NM_001323019:exon2:c.G410T:p.G137V,SETD9:NM_001323020:exon2:c.G332T:p.G111V,SETD9:NM_153706:exon2:c.G410T:p.G137V	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.067729239817	7.7e-05	0.00119808	0.0011	0	0.0017	0	0.0009	0.0004	0.0034	0.0052	0.0009056	140	154602	rs149334074	0.0007	0.0007	0.0006	0.0008	0.0051	0.0006	0.0006	0.0047	0.0045	9.123e-05	0.0006	3.895e-05	0	0.0006	0.0028	0.0004	0.0007	0.0051	0.0004	0.0004	0.0003	0.0006	0.0064	0.0003	0.0003	0.0046	0.0040	0	0	0	0	0	0.0007	0.0102	0.0003	0.0014	0.0064	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.25	0.59449	T	-7.95	0.96317	D	0.968	0.98065	-0.0949	0.80216	T	0.409	0.75810	T	10	0.066066176	0.09006	T	0.067729	0.70250	D	0.628	0.85666	.	.	0.709593456008	0.70705	0.9505551696146641	0.95039	0.866952392117	0.69245	0.58598959446	0.50930	T	0.501729	0.82182	D	0.00614425	0.52499	T	0.236453	0.84981	D	0.194139614701271	0.20085	T	0.927707	0.73352	D	0.88419145	0.90015	0.7981797	0.88155	0.88419145	0.90016	0.7981797	0.88156	-14.856	0.95506	D	.	.	0.891	0.82402	P	.;.	.;.	4.562653	0.71907	25.7	0.99799438270208862	0.88461	0.95916	0.66708	D	AEFBCI	0.806688	0.73093	D	0.723295849729994	0.81158	7.457481	0.670792337154778	0.80168	7.239121	0.999999999824983	0.74766	0.653281	0.48532	0	0.627608	0.54475	0	0.696353	0.63694	0	0.669	0.65921	0	.	.	5.56	4.68	0.58319	6.366000	0.73033	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8652:0.1348	16.041	0.80483	932	0.16191	SET domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1070.33	41	chr5	56911480	.	G	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-2.258;SOR=0.657	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr5	56916860	56916862	AGG	-	exonic	SETD9	.	nonframeshift deletion	SETD9:NM_001323018:exon6:c.780_782del:p.G261del,SETD9:NM_001323022:exon6:c.402_404del:p.G135del,SETD9:NM_153706:exon6:c.858_860del:p.G287del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	9.07e-05	9.623e-05	8.655e-05	0	0	0	0.0011	0.0005	7.12e-05	11	154602	rs753882883	4.533e-05	4.925e-05	2.596e-05	6.493e-05	0.0006	3.656e-05	3.335e-05	0.0005	0.0005	0	4.587e-05	0	0.0001	0	0	2.703e-06	4.982e-05	0.0006	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0006	1.26e-05	7.97e-06	0.0002	9e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2530.29	40	chr5	56916859	.	AAGG	A	2530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.306;DP=903;ExcessHet=0;FS=1.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=2.37;SOR=0.642	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	57262616	57262616	A	G	exonic	GPBP1	.	nonsynonymous SNV	GPBP1:NM_001127236:exon11:c.A1307G:p.K436R,GPBP1:NM_001203246:exon11:c.A773G:p.K258R,GPBP1:NM_001127235:exon12:c.A1262G:p.K421R,GPBP1:NM_022913:exon12:c.A1286G:p.K429R,GPBP1:NM_001331037:exon13:c.A1346G:p.K449R	.	441	1076	4	1	0	6	0.00278035	.	.	.	2761908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0150915459987	.	0.000199681	0.0003	0	0.0003	0	0	0.0004	0.0033	0	0.0002264	35	154602	rs199892864	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0002	0.0054	0.0048	0.0002	0.0006	0.0004	0	0	0.0071	0.0002	0.0008	8.121e-05	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	0.0002	0	0.0008	0.0003	0	0	0.0034	0.0004	0.0005	0.0002	0.187	0.22660	T	0.224	0.25591	T	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	N	0.085770	0.806175	0.39932	D	1.575	0.39704	L	0.83	0.47815	T	-1.72	0.41239	N	0.316	0.43803	-0.7084	0.60031	T	0.191	0.54345	T	10	0.079953104	0.12923	T	0.015092	0.35618	T	0.192	0.47115	.	.	0.174091166621	0.17034	0.15034504841661608	0.14956	1.00011522387	0.74376	0.788703083992	0.80246	T	0.033389	0.22893	T	-0.380388	0.03099	T	-0.425597	0.30436	T	0.0595644312992923	0.07099	T	0.860114	0.55285	D	0.12948577	0.30241	0.16011953	0.37309	0.12948577	0.30241	0.16011953	0.37308	-4.152	0.26053	T	.	.	0.095	0.15788	B	.;.;.;.;.	.;.;.;.;.	3.815248	0.55051	23.6	0.9971177772355555	0.81423	0.93406	0.58132	D	AEDBI	0.653901	0.62677	D	0.141430827531353	0.48405	3.053323	0.222608187739507	0.51105	3.29591	0.999999782491201	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.92	0.64147	4.763000	0.61953	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9293:0.0:0.0707:0.0	10.888	0.46187	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005102	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1822.33	146	chr5	57262616	.	A	G	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=769;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.816;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr5	59430294	59430294	C	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G125A:p.R42H	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1687556	not_provided|PDE4D-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs181294274	0.0014	0.0010	0.0014	0.0014	0.0015	0.0013	0.0013	0.0014	0.0014	0.0002	0.0011	0.0022	0	0.0027	0.0003	0.0015	0.0010	0.0002	0.0013	0.0014	0.0014	0.0012	0.0020	0.0012	0.0011	0.0018	0.0017	0.0002	0	0.0011	0.0035	0	0.0024	0	0.0020	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04692307	0.03944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030068	0.21402	T	.	.	.	.	.	.	.	.	.	0.740526	0.35940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.42097	B	.	.	4.844533	0.79118	27.0	0.81897001017793447	0.13915	0.92488	0.55829	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999867237818	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.066767	0.01867	0	0.062806	0.01542	0	0.983189	0.89830	5.33	5.33	0.75683	3.061000	0.49656	7.490000	0.59357	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.138:0.862:0.0:0.0	15.582	0.76198	761	0.50382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1789.33	33	chr5	59430294	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=779;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=2.64;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	59430382	59430382	C	G	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G37C:p.G13R	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.853e-06	1.368e-06	3.511e-06	0	0.0003	3.1e-07	1.2e-07	.	.	4.358e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22856304	0.39763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008984	0.08212	T	.	.	.	.	.	.	.	.	.	0.608539	0.22995	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37044	B	.	.	3.760862	0.53966	23.4	0.68507996171951779	0.08679	0.93699	0.58939	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999999867651624	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.065499	0.01848	0	0.062806	0.01542	0	0.97756	0.81275	5.32	5.32	0.75377	3.970000	0.56530	3.902000	0.40356	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9277:0.0:0.0723	14.475	0.67120	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1105.33	33	chr5	59430382	.	C	G	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=780;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.006;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	60603566	60603566	A	G	exonic	DEPDC1B	.	nonsynonymous SNV	DEPDC1B:NM_001145208:exon9:c.T1067C:p.M356T,DEPDC1B:NM_018369:exon9:c.T1067C:p.M356T	.	.	.	.	.	.	.	.	0.0584	0.266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0555907273999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.609	0.39586	P	0.119	0.32162	B	0.000000	0.84330	D	0.036985	1	0.81001	D	2.455	0.71248	M	1.01	0.41058	T	-4.35	0.77061	D	0.919	0.92200	-0.8849	0.49365	T	0.129	0.43767	T	9	0.7507193	0.75617	D	0.055591	0.66293	D	0.361	0.68141	0.442	0.49811	0.757653053903	0.75545	0.6838780957182191	0.68326	0.256720259627	0.28242	0.752918839455	0.74878	T	0.479888	0.80911	T	0.261294	0.79649	D	0.137554	0.79385	D	0.983119308948517	0.74903	D	0.819018	0.49341	T	0.7051757	0.78341	0.7716519	0.86520	0.7051757	0.78342	0.7716519	0.86521	-9.674	0.74466	D	.	.	0.639	0.70478	P	.;.	.;.	4.107910	0.61310	24.3	0.98345020452911924	0.40477	0.99383	0.95317	D	AEFGBI	0.928474	0.91275	D	0.356782722530896	0.59098	4.086598	0.420136077589213	0.62819	4.504128	0.999999937926433	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	8.650000	0.90829	11.033000	0.85085	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	1.0:0.0:0.0:0.0	15.348	0.74073	566	0.70798	Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	257.33	34	chr5	60603566	.	A	G	257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.739;DP=648;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.141;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1172:.	18	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C,ELOVL7:NM_024930:exon4:c.C236G:p.S79C,ELOVL7:NM_001297617:exon6:c.C197G:p.S66C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	968.33	34	chr5	60771922	.	G	C	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=742;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-1.767;SOR=0.411	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	18	0	1	0
chr5	60898280	60898280	G	T	exonic	ERCC8	.	nonsynonymous SNV	ERCC8:NM_001290285:exon8:c.C380A:p.T127K,ERCC8:NM_000082:exon9:c.C839A:p.T280K,ERCC8:NM_001007233:exon10:c.C665A:p.T222K	Cockayne syndrome, type A, Autosomal recessive;UV-sensitive syndrome 2, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	196149	not_specified|Hereditary_breast_ovarian_cancer_syndrome|ERCC8-related_disorder|not_provided|Cockayne_syndrome_type_1	MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.|MedGen:C3661900|MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.565	0.068002926487	0.0027	0.00119808	0.0019	0.0007	0.0017	0	0.0005	0.0026	0	0.0018	0.0019146	296	154602	rs61754098	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0014	3.83e-05	0	0.0005	0.0010	0.0029	0.0024	0.0022	0.0020	0.0020	0.0022	0.0017	0.0035	0.0018	0.0017	0.0029	0.0028	0.0009	0	0.0015	0	0	0.0002	0	0.0033	0.0005	0.0035	0.004	0.65419	D	0.007	0.69154	D	0.996	0.68779	D	0.486	0.47228	P	0.000000	0.84330	D	0.050026	1	0.81001	D	2.545	0.74286	M	-0.42	0.69536	T	-4.36	0.76980	D	0.921	0.92433	-0.3575	0.73336	T	0.342	0.70746	T	10	0.060192406	0.07354	T	0.068003	0.70327	D	0.565	0.82232	.	.	0.886987068134	0.88587	0.6238410813809472	0.62317	0.073066079033	0.08188	0.692285716534	0.66034	T	0.383124	0.74505	T	0.0175246	0.54047	T	0.248093	0.85527	D	0.0289739182042587	0.01833	T	0.916908	0.70254	D	0.72816336	0.79620	0.520479	0.72295	0.7420828	0.80413	0.5547589	0.74249	-11.282	0.81182	D	.	.	0.424	0.60894	A	.	.	4.713002	0.75728	26.4	0.99272038801577867	0.57593	0.96910	0.71608	D	AEFBI	0.781376	0.71298	D	0.30499098390633	0.56406	3.805093	0.302883129158695	0.55707	3.733703	0.998182138094602	0.36545	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.03	4.16	0.48138	7.496000	0.80367	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0774:0.0:0.9226:0.0	13.182	0.59084	847	0.35998	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	498.33	35	chr5	60898280	.	G	T	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=652;ExcessHet=0;FS=3.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.635;SOR=1.457	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,928	18	0	1	0
chr5	61332354	61332354	A	0	exonic	ZSWIM6	.	.	.	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	747.6	28	chr5	61332354	.	A	*	747.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.396;DP=479;ExcessHet=0.0101;FS=0.986;InbreedingCoeff=0.4351;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.496;SOR=0.551	GT:AD:DP:GQ:PL	0/0:37,0:37:81:0,81,1215	18	0	1	0
chr5	61543995	61543995	G	A	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon14:c.G3326A:p.R1109H	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1397824	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.336	0.0229286943236	0.0002	0.000199681	9.024e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs372466113	3.001e-05	3.078e-05	2.679e-05	3.332e-05	5.596e-05	2.247e-05	1.992e-05	2.618e-05	2.292e-05	0	2.801e-05	0	5.596e-05	0	0	3.522e-05	1.722e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.418e-05	0	2.94e-05	0	0	0.071	0.35165	T	0.169	0.30534	T	0.931	0.51899	P	0.479	0.47059	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.77	0.49642	T	-3.55	0.68764	D	0.591	0.61087	-0.8531	0.51753	T	0.169	0.50971	T	10	0.2793697	0.45509	T	0.022929	0.45860	T	0.336	0.65816	.	.	0.335414705075	0.33150	0.828769869571503	0.82834	1.10135512273	0.77744	0.913442134857	0.97785	D	0.095398	0.39612	T	-0.0109345	0.50136	T	-0.106155	0.62917	T	0.785958051681519	0.45427	D	0.999716	0.99924	D	0.36527285	0.58234	0.23815246	0.49130	0.36527285	0.58234	0.23815246	0.49129	-8.776	0.66244	D	0.17420137303793626	0.22110	0.190	0.40826	B	.	.	5.494335	0.91516	32	0.9991952703535627	0.98654	0.99289	0.94010	D	AEFGBI	0.858178	0.77564	D	0.585564630054643	0.72275	5.779863	0.618771652607927	0.76305	6.466291	1.0	0.98316	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	9.553000	0.97219	11.925000	0.99859	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.150	0.89602	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2433.33	33	chr5	61543995	.	G	A	2433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=808;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.94;SOR=0.741	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1478	18	0	1	0
chr5	63961685	63961685	G	C	exonic	HTR1A	.	nonsynonymous SNV	HTR1A:NM_000524:exon1:c.C35G:p.T12S	Periodic fever, menstrual cycle dependent, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0483501195712	.	.	1.672e-05	0	0	0	0	3.045e-05	0	0	1.29e-05	2	154602	rs199681622	1.026e-05	1.026e-05	1.362e-05	6.878e-06	1.169e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.91255	T	0.608	0.07741	T	0.278	0.32022	B	0.057	0.26280	B	0.489648	0.12072	N	0.754399	0.866911	0.35490	D	0	0.06538	N	0.02	0.62318	T	-0.49	0.74051	N	0.537	0.56489	-0.8653	0.50878	T	0.154	0.48498	T	10	0.18703598	0.34196	T	0.04835	0.63331	D	0.087	0.25287	0.202	0.11659	0.619622683959	0.61654	0.2957656024512221	0.29489	1.08353906917	0.77205	0.532051324844	0.43324	T	0.17154	0.51970	T	-0.0453052	0.45159	T	-0.282583	0.46539	T	0.291986145129156	0.24672	T	0.547445	0.26653	T	0.11805628	0.27821	0.09595552	0.22780	0.11805628	0.27821	0.09595552	0.22779	-2.578	0.06337	T	.	.	0.073	0.25592	B	.;.	.;.	2.634915	0.34271	19.58	0.79201400558894497	0.12635	0.93493	0.58367	D	AEFDBCI	0.753277	0.69352	D	-0.0962532482951009	0.37555	2.18669	0.0319840623685088	0.41210	2.471956	0.999367201444342	0.39301	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.71	4.71	0.59010	9.530000	0.97114	11.539000	0.93124	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.497000	0.28949	0.0:0.0:1.0:0.0	16.642	0.84985	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	727.33	41	chr5	63961685	.	G	C	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0;SOR=0.769	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	18	0	1	0
chr5	64214012	64214012	A	G	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.A686G:p.H229R,RNF180:NM_001323292:exon4:c.A686G:p.H229R,RNF180:NM_178532:exon4:c.A686G:p.H229R	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00842243536273	0.0008	0.000599042	0.0006	9.73e-05	0.0002	0	0.0002	0.0007	0.0011	0.0012	0.0005951	92	154602	rs146938584	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0002	0	0	9.36e-05	0.0005	0.0012	0.0007	0.0011	0.0006	0.0006	0.0007	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0002	0	0	0	0	0.0011	0	0.0010	0.199	0.20456	T	0.521	0.19908	T	0.85	0.46913	P	0.325	0.41883	B	0.032338	0.25044	N	0.464987	0.717	0.81001	D	2.555	0.74557	M	0.92	0.44461	T	-0.89	0.27463	N	0.32	0.36043	-1.0461	0.15505	T	0.099	0.36907	T	10	0.02419126	0.00657	T	0.008422	0.22282	T	0.076	0.22200	.	.	0.693830937314	0.69119	0.15564160860775586	0.15485	0.120071493571	0.13520	0.432574391365	0.29560	T	0.007561	0.06959	T	-0.411869	0.01931	T	-0.40995	0.32230	T	0.0227644734846995	0.00996	T	0.716128	0.32863	T	0.09967187	0.23525	0.10557779	0.25383	0.09967187	0.23525	0.10557779	0.25382	-3.162	0.13698	T	.	.	0.125	0.26357	B	.;.	.;.	2.233409	0.28512	17.82	0.93697201951617815	0.23607	0.67492	0.33452	D	AEFBI	0.097531	0.19669	N	0.167482584121235	0.49642	3.162384	0.271726200897952	0.53893	3.556369	0.0132235301353204	0.12435	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	6.08	4.94	0.64645	2.036000	0.40786	5.513000	0.48803	0.756000	0.94297	0.957000	0.33433	1.000000	0.68203	0.998000	0.85391	0.7965:0.0:0.2035:0.0	7.671	0.27624	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	2012.33	44	chr5	64214012	.	A	G	2012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.073;DP=834;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.704;SOR=0.752	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr5	67183240	67183240	C	G	exonic	CD180	.	nonsynonymous SNV	CD180:NM_005582:exon3:c.G1603C:p.D535H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0302429804276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.096e-05	2.522e-05	5.974e-05	0	0	0	0	0.0003	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.335	0.18286	T	0.831	0.46109	P	0.331	0.42107	B	0.493606	0.05050	N	1.318910	1	0.08975	N	1.995	0.54099	M	0.42	0.56937	T	-0.69	0.19720	N	0.116	0.10483	-0.9023	0.47749	T	0.111	0.39912	T	10	0.16455913	0.30782	T	0.030243	0.52598	D	0.058	0.16647	.	.	0.716849003213	0.71436	0.3032965129840336	0.30242	0.202067841752	0.22620	0.244355380535	0.03197	T	0.048609	0.28067	T	-0.256232	0.13345	T	-0.605836	0.12326	T	0.167713921517034	0.18423	T	0.734627	0.35069	T	0.12790844	0.29918	0.07742915	0.17249	0.12790844	0.29917	0.07742915	0.17248	-3.775	0.20432	T	.	.	0.102	0.17785	B	.	.	-0.139396	0.03414	0.620	0.54542589138377984	0.05159	0.02870	0.07642	N	AEFDBI	0.060966	0.11623	N	-0.792829276673724	0.13496	0.6652633	-1.03626404013561	0.08995	0.4451462	0.999998814246035	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	-6.85	0.01521	-0.215000	0.09284	-1.785000	0.04731	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1613:0.1418:0.0788:0.6181	4.301	0.10369	954	0.10045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	33	chr5	67183240	.	C	G	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.292;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.6;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr5	69308024	69308024	A	C	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon5:c.T455G:p.I152R,CCDC125:NM_176816:exon5:c.T458G:p.I153R,CCDC125:NM_001297697:exon6:c.T83G:p.I28R	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0130146900919	0.0007	0.00179712	0.0010	0.0013	0.0018	0	0	0.0012	0.0022	0.0002	0.0010867	168	154602	rs147567034	0.0009	0.0009	0.0009	0.0008	0.0094	0.0008	0.0008	0.0074	0.0067	0.0016	0.0021	0.0024	0	0	0.0094	0.0007	0.0024	0.0002	0.0014	0.0014	0.0014	0.0014	0.0044	0.0013	0.0012	0.0036	0.0033	0.0015	0	0.0044	0.0026	0	0	0.0136	0.0009	0.0052	0.0002	0.004	0.78490	D	0.002	0.79402	D	0.925	0.51395	P	0.667	0.53020	P	0.032369	0.25039	N	0.438594	0.997544	0.46353	D	2.14	0.59869	M	0.87	0.46412	T	-4.06	0.75537	D	0.528	0.56489	-0.9356	0.43303	T	0.125	0.42903	T	10	0.012123197	0.00262	T	0.013015	0.32072	T	0.244	0.55061	.	.	0.428516003163	0.42472	0.192961731699872	0.19214	0.273820942489	0.29883	0.427822351456	0.28911	T	0.072894	0.50274	T	-0.222473	0.17656	T	-0.111358	0.62503	T	0.0483290379125518	0.05204	T	.	.	.	0.5396604	0.69377	0.6133059	0.77498	0.5396604	0.69378	0.6133059	0.77499	-12.231	0.85958	D	.	.	0.642	0.72014	P	.;.;.;.	.;.;.;.	4.468844	0.69614	25.4	0.98835342061883547	0.47018	0.97832	0.77462	D	AEFI	0.575465	0.57785	D	0.447725033131728	0.64074	4.65396	0.521516119564546	0.69441	5.360711	0.824704470767605	0.24586	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	5.702000	0.67987	11.076000	0.85665	0.739000	0.86063	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.798	0.69516	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.020202	0.016304	0.008772	0.000000	0.000000	0.012195	0.000000	0.02632	661.33	34	chr5	69308024	.	A	C	661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=688;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.38;SOR=0.557	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1385	18	0	1	0
chr5	69320263	69320263	G	A	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon2:c.C278T:p.S93F,CCDC125:NM_176816:exon2:c.C278T:p.S93F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0138006741632	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs752672711	7.459e-05	7.525e-05	3.677e-05	0.0001	0.0013	6.317e-05	5.875e-05	0.0011	0.0010	0	0	0	0	0	0	0	1.657e-05	0.0013	5.915e-05	5.91e-05	2.569e-05	9.418e-05	0.0019	3.078e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.028	0.46129	D	0.053	0.47336	T	0.662	0.40950	P	0.329	0.44785	B	0.819246	0.06874	N	1.084380	1	0.08975	N	.	.	.	2.56	0.15261	T	-2.57	0.58248	D	0.175	0.18784	-1.0151	0.25304	T	0.054	0.22883	T	10	0.012339532	0.00266	T	0.013801	0.33474	T	0.018	0.03083	0.217	0.13788	0.0297737177859	0.01360	0.09275151135037579	0.09207	0.198554563414	0.22235	0.268309116364	0.05922	T	0.039304	0.39876	T	-0.558915	0.00258	T	-0.616152	0.11490	T	0.147291120770091	0.16886	T	.	.	.	0.07245667	0.16118	0.089833386	0.21030	0.07245667	0.16118	0.089833386	0.21030	-4.463	0.30401	T	.	.	0.129	0.27821	B	.;.;.	.;.;.	1.005237	0.13839	10.39	0.85344219184416015	0.15834	0.04614	0.10274	N	AEFI	0.072530	0.14477	N	-0.440392635487778	0.24067	1.296915	-0.57597990631132	0.20121	1.082585	1.43848022652935E-4	0.05573	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.24	2.41	0.28644	1.102000	0.30662	1.011000	0.23332	0.674000	0.70861	0.001000	0.13787	0.000000	0.08366	0.380000	0.26335	0.1788:0.1618:0.6594:0.0	5.634	0.16801	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4301.81	33	chr5	69320263	.	G	A	4301.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.51;SOR=1.187	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1371	18	1	0	0
chr5	69373887	69373887	A	G	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon2:c.A100G:p.T34A,RAD17:NM_002873:exon3:c.A67G:p.T23A,RAD17:NM_133344:exon3:c.A67G:p.T23A,RAD17:NM_001278622:exon4:c.A67G:p.T23A,RAD17:NM_133342:exon4:c.A67G:p.T23A,RAD17:NM_133343:exon4:c.A67G:p.T23A,RAD17:NM_133338:exon5:c.A67G:p.T23A	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00848218847751	0.0008	0.00239617	0.0011	0.0018	0.0020	0	0	0.0012	0.0022	0.0009	0.0011319	175	154602	rs138670053	0.0009	0.0009	0.0009	0.0009	0.0087	0.0008	0.0008	0.0068	0.0061	0.0022	0.0025	0.0024	5.045e-05	0	0.0087	0.0007	0.0025	0.0008	0.0015	0.0015	0.0015	0.0015	0.0045	0.0013	0.0013	0.0037	0.0034	0.0018	0	0.0045	0.0026	0	0	0.0170	0.0009	0.0052	0.0002	0.374	0.11406	T	0.769	0.17217	T	0.0	0.02946	B	0.001	0.04355	B	0.122490	0.18954	N	0.573369	1	0.30061	N	0.855	0.21307	L	2.23	0.44856	T	-0.32	0.12283	N	0.038	0.01347	-1.0037	0.28844	T	0.049	0.20868	T	10	0.003594935	0.00065	T	0.008482	0.22432	T	0.026	0.05648	.	.	0.204665344411	0.20097	0.23135176777254593	0.23050	0.0537011207665	0.05932	0.240866303444	0.02869	T	0.095302	0.39593	T	-0.60805	0.00130	T	-0.653462	0.08714	T	0.00131013022641434	0.00013	T	0.464953	0.14122	T	0.03168526	0.03054	0.024303526	0.00448	0.03168526	0.03053	0.024303526	0.00447	-3.587	0.18597	T	.	.	0.059	0.01271	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.312564	0.00428	0.009	0.6243656244205863	0.06962	0.01835	0.05691	N	AEFBI	0.045290	0.07390	N	-1.32449463500944	0.03397	0.1516629	-1.33393741131967	0.03998	0.1877104	0.999609012664629	0.40866	0.651	0.46895	0	0.685571	0.66316	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.38	-1.73	0.07646	-0.379000	0.07494	-2.264000	0.03979	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4356:0.0:0.3849:0.1795	5.512	0.16176	976	0.04745	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013609	0.030303	0.019022	0.008772	0.000000	0.000000	0.009202	0.000000	0.02941	311.14	24	chr5	69373887	.	A	G	311.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.6;DP=679;ExcessHet=0;FS=5.073;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=1.31;SOR=1.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,839	16	0	1	2
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.05263	2804.83	33	chr5	69414057	.	G	A	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=802;ExcessHet=0.119;FS=1.068;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.724;SOR=0.598	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1141,0,1392	17	0	2	0
chr5	71055434	71055434	A	T	exonic	GTF2H2;GTF2H2C_2	.	nonsynonymous SNV	GTF2H2C_2:NM_001354439:exon7:c.T217A:p.S73T,GTF2H2:NM_001364572:exon7:c.T217A:p.S73T,GTF2H2C_2:NM_001354437:exon8:c.T388A:p.S130T,GTF2H2C_2:NM_001354438:exon8:c.T388A:p.S130T,GTF2H2:NM_001364568:exon8:c.T388A:p.S130T,GTF2H2:NM_001364569:exon8:c.T388A:p.S130T,GTF2H2:NM_001364570:exon8:c.T388A:p.S130T,GTF2H2:NM_001515:exon8:c.T388A:p.S130T,GTF2H2C_2:NM_001042490:exon9:c.T388A:p.S130T,GTF2H2:NM_001364567:exon9:c.T388A:p.S130T,GTF2H2:NM_001364571:exon9:c.T388A:p.S130T,GTF2H2:NM_001364573:exon9:c.T220A:p.S74T	.	613	904	4	1	0	6	0.00330761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00614605245563	0.0022	0.000599042	0.0034	0.0018	0.0019	0	0.0038	0.0050	0.0014	0.0007	0.0022898	354	154602	rs201330591	0.0045	0.0045	0.0046	0.0044	0.0055	0.0044	0.0044	0.0051	0.0050	0.0006	0.0021	0.0068	0	0.0026	0.0055	0.0052	0.0044	0.0005	0.0032	0.0032	0.0031	0.0033	0.0060	0.0030	0.0029	0.0050	0.0046	0.0009	0.0011	0.0060	0.0045	0	0.0012	0	0.0046	0.0047	0.0002	0.076	0.34269	T	0.114	0.36765	T	0.004	0.12183	B	0.007	0.12992	B	0.000000	0.84330	D	0.052093	0.972266	0.81001	D	0	0.06538	N	1.46	0.32238	T	-0.65	0.18877	N	0.317	0.35727	-1.0784	0.07661	T	0.034	0.14552	T	10	0.014356405	0.00302	T	0.006146	0.16082	T	0.070	0.20419	.	.	0.355073828461	0.35122	0.41569285944045586	0.41485	1.55511015912	0.87952	0.649873197079	0.59968	T	0.08144	0.36599	T	-0.507903	0.00516	T	-0.506647	0.21661	T	0.0116420732163634	0.00178	T	0.853215	0.53849	D	0.39439574	0.60342	0.14320989	0.34043	0.39439574	0.60343	0.14320989	0.34042	-6.57	0.50823	T	.	.	0.073	0.04847	B	.;.	.;.	1.985071	0.25217	16.68	0.95065374630709787	0.26098	0.81841	0.41166	D	AEFI	0.502631	0.53496	D	-0.487274450955029	0.22498	1.201676	-0.375540651516153	0.25729	1.416678	4.22632434225209E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	4.874000	0.62758	6.853000	0.56743	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.5684:0.4316:0.0:0.0	6.547	0.21611	958	0.09170	Ssl1-like|von Willebrand factor, type A|von Willebrand factor, type A|Ssl1-like;Ssl1-like|von Willebrand factor, type A|von Willebrand factor, type A|Ssl1-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003812	0.000000	0.001408	0.004545	0.000000	0.008929	0.012295	0.000000	0.02632	1531.33	34	chr5	71055434	.	A	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.224;DP=763;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.83;MQRankSum=-4.13;QD=16.12;ReadPosRankSum=0.646;SOR=0.336	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1136	18	0	1	0
chr5	71560035	71560035	A	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon37:c.A7294G:p.T2432A	.	12	1494	16	0	0	16	0.00532623	.	.	.	3509742	BDP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0046877141636	0.0003	0.000998403	0.0008	0	0.0002	0.0002	0.0005	0.0005	0.0034	0.0030	0.0006727	104	154602	rs193246924	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0027	0.0026	2.987e-05	0.0006	0.0013	7.559e-05	0.0007	0.0035	0.0002	0.0006	0.0030	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	7.22e-05	0	0.0013	0.0009	0	0.0004	0	0.0003	0.0014	0.0025	0.022	0.48642	D	0.235	0.24767	T	0.612	0.39723	P	0.197	0.36707	B	0.089060	0.20448	N	0.414227	1	0.08975	N	1.59	0.40313	L	3.65	0.04267	T	-1.66	0.39692	N	0.113	0.10056	-1.0026	0.29168	T	0.015	0.05994	T	10	0.0037195086	0.00069	T	0.004688	0.11660	T	0.042	0.11227	.	.	0.132336055621	0.12781	0.09146985494391016	0.09079	0.162580693133	0.18349	0.243296355009	0.03095	T	0.015198	0.12791	T	-0.621145	0.00108	T	-0.669623	0.07632	T	0.021548904028548	0.00859	T	0.592541	0.21854	T	0.05239237	0.09765	0.05517199	0.09629	0.05239237	0.09764	0.05517199	0.09628	-3.561	0.17296	T	.	.	0.107	0.19919	B	.	.	1.922680	0.24416	16.39	0.9858064117121873	0.43232	0.04950	0.10712	N	AEFGBI	0.034544	0.04297	N	-0.264636589968389	0.30524	1.702762	-0.30138243378528	0.28054	1.561225	0.0183647452203762	0.13050	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	2.74	0.31352	0.900000	0.28062	1.051000	0.23638	0.691000	0.84096	0.004000	0.16614	0.276000	0.24078	0.978000	0.57271	0.6366:0.1854:0.0:0.178	5.344	0.15303	423	0.81269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	5344.81	33	chr5	71560035	.	A	G	5344.81	.	AC=2;AF=0.053;AN=38;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.54;SOR=1.205	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	1	0	0
chr5	71599672	71599672	G	C	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon4:c.G295C:p.E99Q,MCCC2:NM_022132:exon4:c.G295C:p.E99Q	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	16959	3-methylcrotonyl-CoA_carboxylase_2_deficiency|Methylcrotonyl-CoA_carboxylase_deficiency|not_provided	MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6|MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.923	0.413832839413	0.0002	0.000399361	2.473e-05	0	0	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs119103219	6.431e-05	6.43e-05	6.535e-05	6.326e-05	8.962e-05	5.362e-05	4.977e-05	6.522e-05	6.082e-05	8.962e-05	2.236e-05	0	0	0	0	7.915e-05	3.312e-05	0	0.0002	0.0002	0.0002	9.412e-05	8.821e-05	0.0001	8.722e-05	3.762e-05	2.575e-05	2.409e-05	0.0176	0	0	0	0	0	8.821e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.693	0.55135	P	0.618	0.51338	P	0.000000	0.84330	D	0.000000	1	0.81001	A	4.15	0.97575	H	-5.72	0.99296	D	-2.82	0.59710	D	0.927	0.97643	1.083	0.98981	D	0.981	0.99408	D	9	0.37141448	0.53504	T	0.413833	0.93654	D	0.923	0.98079	.	.	0.99391786001	0.99385	0.9702834571895582	0.97017	0.521547162058	0.49923	0.653680443764	0.60509	T	0.851809	0.99297	D	0.460347	0.92942	D	0.603776	0.97285	D	0.997648179531097	0.92063	D	0.995867	0.98887	D	0.8937409	0.90830	0.8485695	0.91409	0.89264756	0.90736	0.8884958	0.94161	-13.745	0.92198	D	0.6440967337849084	0.71523	0.592	0.72593	P	.;.;.	.;.;.	5.042832	0.83940	28.2	0.9975439773877528	0.84537	0.98856	0.87762	D	AEFBI	0.919774	0.89079	D	0.911538934265581	0.92315	11.35261	0.890215428719	0.95132	13.33995	0.999999999999954	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	6.02	0.97559	9.271000	0.94922	11.775000	0.95959	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.306	0.94151	425	0.81160	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2205.81	34	chr5	71599672	.	G	C	2205.81	.	AC=2;AF=0.053;AN=38;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.97;SOR=1.131	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	18	1	0	0
chr5	72198000	72198000	G	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.G4267T:p.V1423L,MAP1B:NM_005909:exon5:c.G4645T:p.V1549L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0123578011418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.333	0.18395	T	0.976	0.58310	D	0.676	0.53321	P	0.000032	0.55875	D	0.000000	0.998568	0.45092	D	1.1	0.28011	L	3.9	0.03516	T	0.17	0.05125	N	0.438	0.47672	-1.0282	0.21038	T	0.021	0.08732	T	10	0.2855143	0.46133	T	0.012358	0.30863	T	0.184	0.45763	0.111	0.02112	0.334885890373	0.33091	0.17740196379909018	0.17659	0.854938578419	0.68716	0.698049783707	0.66863	T	0.178864	0.52966	T	-0.102531	0.36005	T	-0.385055	0.35131	T	0.887431144714355	0.53793	D	0.754025	0.37642	T	0.41337487	0.61648	0.34079322	0.59827	0.41337487	0.61648	0.34079322	0.59826	-3.681	0.19038	T	.	.	0.665	0.71550	P	.	.	4.393983	0.67831	25.2	0.99482000028801199	0.66959	0.95481	0.64892	D	AEFDBCI	0.871945	0.79358	D	0.460687244015667	0.64813	4.744357	0.499829075595656	0.67979	5.157219	0.999999999998839	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	5.19	0.71428	7.694000	0.83480	11.931000	0.99922	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	18.709	0.91613	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	30.33	42	chr5	72198000	.	G	T	30.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.681;DP=1228;ExcessHet=0;FS=77.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=0.554;SOR=6.272	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr5	72198766	72198766	C	A	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C5033A:p.T1678N,MAP1B:NM_005909:exon5:c.C5411A:p.T1804N	.	431	1087	4	0	0	4	0.00183655	.	.	.	2344584	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.139	0.0104651261161	.	.	0.0002	0	0	0	0	3e-05	0	0.0012	0.0001488	23	154602	rs767578125	5.883e-05	5.883e-05	2.178e-05	9.625e-05	0.0007	4.876e-05	4.496e-05	0.0006	0.0005	0	0	0	0	0	0.0007	1.529e-05	6.623e-05	0.0007	1.971e-05	1.97e-05	0	4.036e-05	0.0004	5.24e-06	2.45e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.021	0.49117	D	0.443	0.13215	T	0.651	0.40707	P	0.216	0.37572	B	0.000219	0.47681	D	0.091918	0.999962	0.52935	D	0.805	0.20218	L	3.94	0.03408	T	-0.56	0.17003	N	0.191	0.20925	-0.7522	0.57820	T	0.010	0.03811	T	10	0.03755808	0.02117	T	0.010465	0.27023	T	0.139	0.37390	0.093	0.01151	0.31316556289	0.30919	0.3158439910352769	0.31497	0.642375242764	0.57806	0.569470763206	0.48603	T	0.116592	0.43604	T	-0.479933	0.00740	T	-0.526922	0.19595	T	0.122020322781653	0.14626	T	0.762724	0.38847	T	0.11737824	0.27672	0.116773754	0.28190	0.11737824	0.27672	0.116773754	0.28189	-5.432	0.41226	T	.	.	0.093	0.13969	B	.	.	3.429286	0.47650	22.5	0.97516167980898372	0.34379	0.96623	0.70072	D	AEFBCI	0.722900	0.67269	D	0.227392081469292	0.52531	3.427	0.378319517188751	0.60231	4.208351	0.999999999997077	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	6.098000	0.71106	6.033000	0.52942	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.439	0.94801	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2171.33	42	chr5	72198766	.	C	A	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=1301;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.408;SOR=0.613	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr5	72444271	72444271	C	T	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon5:c.G1720A:p.A574T	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0051	0.00199681	0.0058	0.0012	0.0023	0	0.0209	0.0066	0.0094	0.0040	0.0054398	841	154602	rs148129425	0.0061	0.0061	0.0061	0.0060	0.0129	0.0060	0.0059	0.0105	0.0097	0.0012	0.0027	0.0084	0	0.0199	0.0129	0.0060	0.0060	0.0032	0.0057	0.0057	0.0057	0.0058	0.0074	0.0054	0.0053	0.0068	0.0066	0.0011	0	0.0044	0.0104	0	0.0176	0.0170	0.0074	0.0062	0.0037	0.138	0.25873	T	0.173	0.30143	T	0.004	0.12183	B	0.002	0.06944	B	0.014768	0.28435	N	0.343284	1	0.08975	N	0.9	0.23182	L	3.04	0.08810	T	-0.65	0.18877	N	0.03	0.00717	-0.9319	0.43859	T	0.010	0.03492	T	10	0.0034471452	0.00061	T	.	.	.	0.028	0.06331	.	.	0.0675242888579	0.06100	0.18513061261576036	0.18431	0.0206609702468	0.02037	0.305955350399	0.11296	T	0.012296	0.10832	T	-0.741775	0.00020	T	-0.827897	0.01300	T	0.00561829153820991	0.00061	T	0.456654	0.13107	T	0.027341094	0.01911	0.044071835	0.05627	0.027341094	0.01911	0.044071835	0.05627	-3.975	0.23428	T	.	.	0.070	0.03552	B	.	.	1.602993	0.20489	14.77	0.9568865245413829	0.27562	0.08312	0.14257	N	AEFDBI	0.134959	0.25514	N	-1.21432684005007	0.04791	0.2170024	-1.18114581908896	0.06225	0.2989571	0.999965224159827	0.48965	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.87	2.13	0.26445	0.216000	0.17370	-0.532000	0.08630	-0.813000	0.03045	0.024000	0.20007	0.000000	0.08366	0.088000	0.17685	0.1254:0.5497:0.0:0.3249	5.297	0.15070	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.013587	0.008772	0.000000	0.008621	0.003049	0.007576	0.02632	1055.33	41	chr5	72444271	.	C	T	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=788;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.526;SOR=0.805	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1214	18	0	1	0
chr5	72460214	72460214	A	G	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon2:c.T1283C:p.M428T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.054365046977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.018	0.59732	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	0.77	0.49642	T	-4.6	0.78976	D	0.795	0.79118	-0.7137	0.59771	T	0.198	0.55315	T	10	0.82313	0.81506	D	0.054365	0.65828	D	0.661	0.87332	0.513	0.61153	0.631548241842	0.62853	0.49593973442780376	0.49514	2.55323415413	0.97924	0.883033216	0.94366	D	0.13996	0.47426	T	0.217313	0.75520	D	0.0743787	0.75203	D	0.990364491939545	0.80583	D	0.862314	0.55722	D	0.6212007	0.73827	0.71633756	0.83257	0.6212007	0.73828	0.71633756	0.83258	-12.928	0.89064	D	.	.	0.995	0.95728	P	.	.	4.022321	0.59421	24.1	0.99316654892628198	0.59204	0.98924	0.88695	D	AEFGBI	0.959865	0.98040	D	0.679537011297181	0.78290	6.842154	0.730289908617049	0.84676	8.359519	0.999999999999976	0.74766	0.554377	0.28877	0	0.491513	0.07743	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	9.325000	0.96006	9.274000	0.79659	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.120	0.81156	827	0.39843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	856.33	35	chr5	72460214	.	A	G	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.68;DP=706;ExcessHet=0;FS=4.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.289;SOR=0.304	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1123	18	0	1	0
chr5	73052418	73052418	A	C	exonic	FCHO2	.	nonsynonymous SNV	FCHO2:NM_001146032:exon12:c.A985C:p.M329L,FCHO2:NM_138782:exon13:c.A1084C:p.M362L	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00285637189212	0.0002	0.000399361	0.0006	0.0003	0.0024	0	0	0.0007	0.0036	0	0.0004204	65	154602	rs202229490	0.0003	0.0003	0.0002	0.0003	0.0080	0.0002	0.0002	0.0062	0.0055	0.0007	0.0015	0.0009	0	3.775e-05	0.0080	0.0002	0.0006	4.761e-05	0.0005	0.0005	0.0003	0.0006	0.0024	0.0004	0.0003	0.0018	0.0016	0.0002	0	0.0024	0.0009	0	0	0.0068	0.0002	0.0009	0.0002	1.0	0.00964	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.481726	0.12158	N	0.771058	0.999936	0.19363	N	-0.895	0.01383	N	2.36	0.16089	T	0.46	0.03140	N	0.154	0.22998	-0.9552	0.40060	T	0.008	0.02760	T	10	0.0061107874	0.00137	T	0.002856	0.05986	T	0.096	0.27654	0.303	0.27164	0.082315109003	0.07666	0.08962070797824606	0.08895	0.226845316457	0.25228	0.361301541328	0.19575	T	2.68E-4	0.00060	T	-0.575429	0.00205	T	-0.62942	0.10459	T	0.00484235709775893	0.00052	T	0.877512	0.59164	D	0.041036353	0.05968	0.06654025	0.13643	0.041036353	0.05967	0.06654025	0.13643	-1.826	0.04577	T	.	.	0.088	0.19032	B	.;.	.;.	1.021527	0.14010	10.58	0.70149733670909031	0.09202	0.53716	0.29439	D	AEFBI	0.136445	0.25711	N	-1.13310169336058	0.06062	0.278079	-0.97195350320851	0.10418	0.5245864	1.5216490024578E-4	0.05650	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.47	-4.68	0.03070	0.117000	0.15414	-0.536000	0.08609	0.750000	0.87069	0.952000	0.33172	0.000000	0.08366	0.998000	0.85391	0.2784:0.0:0.7216:0.0	16.554	0.84329	854	0.34840	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.014946	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2568.33	193	chr5	73052418	.	A	C	2568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.203;DP=831;ExcessHet=0;FS=4.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.09;SOR=0.921	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	73123575	73123575	G	A	exonic	TMEM171	.	nonsynonymous SNV	TMEM171:NM_001161342:exon2:c.G202A:p.V68M,TMEM171:NM_173490:exon2:c.G202A:p.V68M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00971053426482	0.0007	.	0.0014	0.0002	0.0002	0.0007	0.0008	0.0024	0.0011	0	0.0013001	201	154602	rs149174030	0.0011	0.0011	0.0011	0.0012	0.0021	0.0011	0.0011	0.0012	0.0012	0.0001	0.0002	0.0042	0.0008	0.0007	0.0021	0.0012	0.0011	0.0001	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	4.81e-05	0	0.0003	0.0020	0.0002	0.0008	0.0034	0.0019	0.0005	0	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.923	0.65830	D	0.128829	0.18716	N	0.504521	0.98608	0.24651	N	1.465	0.36909	L	1.55	0.29866	T	-2.1	0.47852	N	0.128	0.12198	-0.9619	0.38819	T	0.134	0.44856	T	10	0.014216334	0.00299	T	0.009711	0.25359	T	0.188	0.46444	.	.	0.290222751274	0.28632	0.5601721219563913	0.55944	0.144840656821	0.16365	0.350803762674	0.18040	T	0.024611	0.18561	T	-0.502252	0.00555	T	-0.498217	0.22533	T	0.0371990003862295	0.03191	T	0.717028	0.32946	T	0.1161385	0.27396	0.11873762	0.28662	0.1161385	0.27396	0.11873762	0.28661	-2.45	0.05448	T	.	.	0.164	0.38190	B	.;.	.;.	3.536494	0.49643	22.8	0.99777919390363856	0.86519	0.78011	0.38427	D	AEFDGBI	0.419214	0.48653	N	0.159336983761572	0.49254	3.127923	0.0588350940428705	0.42500	2.571729	0.999999999993881	0.74766	0.538715	0.22204	0	0.59043	0.45803	0	0.298653	0.05632	1	0.563494	0.21769	0	.	.	5.2	5.2	0.71720	4.045000	0.57081	4.369000	0.43143	-0.212000	0.08331	0.684000	0.28476	0.934000	0.28616	0.068000	0.16518	0.0:0.0:1.0:0.0	18.732	0.91703	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2755.33	34	chr5	73123575	.	G	A	2755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=1051;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-2.012;SOR=0.571	GT:AD:DP:GQ:PL	0/1:86,101:187:99:2769,0,2182	18	0	1	0
chr5	73123819	73123819	A	T	exonic	TMEM171	.	nonsynonymous SNV	TMEM171:NM_001161342:exon2:c.A446T:p.D149V,TMEM171:NM_173490:exon2:c.A446T:p.D149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0103648505905	.	0.000199681	0.0001	0	0	0.0015	0	1.503e-05	0	0	0.0001164	18	154602	rs200969145	0.0002	0.0002	0.0002	0.0001	0.0054	0.0001	0.0001	0.0048	0.0046	0	0	0	0.0054	0	0	3.6e-06	3.316e-05	0	5.909e-05	6.562e-05	6.426e-05	5.37e-05	0.0017	3.075e-05	2.209e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0	0.057	0.37966	T	0.295	0.20811	T	0.114	0.26387	B	0.032	0.22131	B	0.424952	0.12823	N	0.742624	1	0.08975	N	1.775	0.45938	L	1.74	0.26301	T	-4.93	0.81755	D	0.261	0.30687	-1.0678	0.09903	T	0.035	0.15291	T	10	0.016228646	0.00342	T	0.010365	0.26807	T	0.113	0.31778	.	.	0.20549828249	0.20151	0.32281404864750124	0.32194	0.447635886102	0.44616	0.318991005421	0.13267	T	0.031947	0.22272	T	-0.469135	0.00861	T	-0.48719	0.23684	T	0.0826696094413506	0.10326	T	0.772623	0.40374	T	0.2284107	0.45560	0.23417969	0.48628	0.2284107	0.45560	0.23417969	0.48627	-2.4	0.05333	T	.	.	0.178	0.38800	B	.;.	.;.	2.281518	0.29170	18.04	0.97604811596683427	0.34870	0.04831	0.10559	N	AEFDGBI	0.078083	0.15746	N	-0.687883262752724	0.16366	0.8331768	-0.655826171183487	0.18070	0.9636772	0.999998353315915	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.35	4.17	0.48303	0.858000	0.27500	6.871000	0.56788	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.031000	0.13245	0.7165:0.0:0.1422:0.1413	5.120	0.14186	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1800.33	39	chr5	73123819	.	A	T	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=824;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.424;SOR=0.572	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr5	73568253	73568253	G	A	exonic	UTP15	.	nonsynonymous SNV	UTP15:NM_032175:exon3:c.G109A:p.E37K	.	.	.	.	.	.	.	.	.	.	.	2214965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.457	0.0442996656848	0.0003	0.000199681	0.0003	0.0002	8.685e-05	0	0.0003	0.0004	0.0011	0.0005	0.000304	47	154602	rs190252235	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	6.003e-05	0.0002	0	5.049e-05	0.0002	0.0002	0.0008	0.0008	0.0008	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0005	0	0	0.0002	0	0.0006	0	0.0008	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.34	0.90961	M	0.37	0.57729	T	-3.84	0.72240	D	0.709	0.71232	-0.1923	0.77870	T	0.407	0.75685	T	10	0.39274484	0.55010	T	0.044	0.61417	D	0.457	0.75551	.	.	0.462259749948	0.45850	0.7008692111700826	0.70027	1.10287884835	0.77784	0.882419705391	0.94284	D	0.185277	0.53820	T	-0.0773507	0.40144	T	0.0233789	0.71850	D	0.476099461317062	0.31754	T	0.950905	0.81262	D	0.65848637	0.75818	0.47516927	0.69586	0.65848637	0.75819	0.47516927	0.69586	-11.488	0.82267	D	.	.	0.878	0.90700	P	.;.	.;.	5.537186	0.91929	32	0.99886080627514284	0.96126	0.98146	0.79995	D	AEFBI	0.860099	0.77790	D	0.910026998484657	0.92242	11.31233	0.870195985505491	0.94138	12.53302	0.999999999999998	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.55	5.55	0.83298	7.774000	0.84234	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.509	0.95124	961	0.08552	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	34	chr5	73568253	.	G	A	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=673;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.734;SOR=1.258	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	18	0	1	0
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S,ARHGEF28:NM_001177693:exon4:c.A323G:p.N108S	.	432	1076	14	0	0	14	0.00646353	.	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.003788	0.05263	5613.83	34	chr5	73753050	.	A	G	5613.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1034;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.211;SOR=0.63	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	17	0	2	0
chr5	73870081	73870081	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon13:c.C1499T:p.S500F,ARHGEF28:NM_001080479:exon21:c.C2438T:p.S813F,ARHGEF28:NM_001177693:exon21:c.C2438T:p.S813F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00908756903042	.	.	8.29e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769938527	2.054e-06	2.052e-06	1.362e-06	2.752e-06	5.039e-05	5.5e-07	1.5e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.022	0.59732	D	0.794	0.56581	P	0.659	0.52771	P	.	.	.	.	0.771472	0.29432	N	1.15	0.29295	L	3.1	0.09822	T	-3.37	0.66780	D	0.174	0.24758	-1.0419	0.16741	T	0.060	0.25127	T	9	0.15202084	0.28722	T	0.009088	0.23917	T	0.155	0.40530	0.409	0.44395	0.256793551483	0.25290	0.43745099749524163	0.43662	0.0853455047791	0.09647	0.396597385406	0.24595	T	0.157341	0.49990	T	-0.37218	0.03485	T	-0.480238	0.24421	T	0.478536784648895	0.31844	T	0.939106	0.77081	D	0.23077469	0.45838	0.26226515	0.52016	0.23077469	0.45838	0.26226515	0.52015	-9.025	0.67858	D	.	.	0.210	0.43828	B	.;.;.;.;.;.	.;.;.;.;.;.	2.984992	0.39833	21.0	0.99586762978710897	0.73336	0.95795	0.66186	D	AEFBI	0.302023	0.41039	N	0.121938476345802	0.47487	2.974	0.139684431900981	0.46597	2.903211	0.999495871644561	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.95	5.09	0.68647	2.324000	0.43491	3.345000	0.37739	-0.171000	0.11205	0.956000	0.33378	0.998000	0.33993	0.993000	0.69303	0.1101:0.829:0.0:0.0609	14.364	0.66355	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	94.71	33	chr5	73870081	.	C	T	94.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.234;DP=760;ExcessHet=0;FS=69.758;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=-0.446;SOR=6.665	GT:AD:DP:GQ:PL	./.:54,0:54:0:0,0,988	17	0	1	1
chr5	73901264	73901264	G	A	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon23:c.G3115A:p.V1039I,ARHGEF28:NM_001080479:exon31:c.G4054A:p.V1352I,ARHGEF28:NM_001177693:exon31:c.G4054A:p.V1352I	.	433	1084	4	1	0	6	0.00275989	.	.	.	252001	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00633159708661	0.0038	0.00119808	0.0032	0.0008	0.0010	0.0001	0.0022	0.0049	0.0024	0.0013	0.0032082	496	154602	rs188040167	0.0040	0.0040	0.0040	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0007	0.0014	0.0056	0.0004	0.0025	0.0023	0.0045	0.0039	0.0019	0.0031	0.0031	0.0030	0.0033	0.0044	0.0029	0.0028	0.0039	0.0038	0.0009	0	0.0044	0.0052	0.0008	0.0030	0.0136	0.0044	0.0043	0.0023	0.189	0.21550	T	0.262	0.24913	T	0.227	0.50838	B	0.027	0.35394	B	0.595123	0.11012	N	0.676215	0.996042	0.23711	N	2.08	0.57402	M	3.16	0.31470	T	-0.15	0.09297	N	0.114	0.15609	-1.0596	0.11855	T	0.047	0.20156	T	10	0.0044407547	0.00091	T	0.006332	0.16639	T	0.070	0.20419	.	.	0.200317383148	0.19677	0.0576468309696133	0.05705	0.0627731416284	0.06987	0.287181049585	0.08513	T	0.009089	0.09278	T	-0.606514	0.00133	T	-0.642901	0.09460	T	0.00681652945253357	0.00077	T	0.658334	0.26756	T	0.05561786	0.10834	0.062134627	0.12107	0.05561786	0.10833	0.062134627	0.12107	-4.739	0.33872	T	.	.	0.095	0.19919	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.930635	0.38935	20.8	0.99577022287281558	0.72742	0.65386	0.32720	D	AEFDGBCIJ	0.098433	0.19836	N	0.044416719433256	0.43886	2.67289	0.120652306431048	0.45608	2.820831	0.999999953391344	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.52	3.7	0.41607	2.260000	0.42923	4.311000	0.42969	0.676000	0.76740	0.907000	0.31601	0.999000	0.35428	0.988000	0.63387	0.1633:0.0:0.8367:0.0	10.119	0.41783	819	0.41190	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	1336.33	33	chr5	73901264	.	G	A	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.891;DP=724;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.011;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,103,1331:.	13	0	5	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,11:69:29:.:.:0,29,1410:.	9	0	10	0
chr5	75210859	75210859	C	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon4:c.G295C:p.D99H,ANKRD31:NM_001372053:exon4:c.G295C:p.D99H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0747051175346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.122	0.35710	T	0.999	0.77913	D	0.946	0.68276	D	.	.	.	.	0.967462	0.25847	N	0.695	0.17993	N	0.09	0.68181	T	-2.29	0.50992	N	0.487	0.52119	-0.6941	0.60717	T	0.305	0.67621	T	9	0.19682926	0.35590	T	0.074705	0.72106	D	0.122	0.33800	0.178	0.08503	0.328486982098	0.32448	0.01750605574355007	0.01705	.	.	0.352389812469	0.18273	T	0.006918	0.06344	T	-0.0404339	0.45883	T	-0.295857	0.45159	T	0.714345831223318	0.41414	D	0.550145	0.18957	T	0.2723489	0.50304	0.29357985	0.55386	0.2723489	0.50304	0.29357985	0.55385	-4.441	0.30109	T	.	.	0.199	0.45372	B	.;.	.;.	3.246978	0.44348	21.9	0.98542813697964804	0.42745	0.78716	0.38878	D	AEFBI	0.162845	0.28906	N	0.259935187243343	0.54132	3.579596	0.225904117519691	0.51289	3.312775	0.00205329967926024	0.09120	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.41	4.41	0.52588	0.527000	0.22695	1.216000	0.24942	0.549000	0.26987	0.997000	0.40164	0.997000	0.33255	0.570000	0.30651	0.0:1.0:0.0:0.0	12.693	0.56355	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1462.33	43	chr5	75210859	.	C	G	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.04;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.593;SOR=0.681	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr5	75411057	75411057	A	G	exonic	CERT1	.	nonsynonymous SNV	CERT1:NM_001379002:exon8:c.T884C:p.M295T,CERT1:NM_001379003:exon8:c.T884C:p.M295T,CERT1:NM_001379004:exon8:c.T884C:p.M295T,CERT1:NM_001379029:exon8:c.T884C:p.M295T,CERT1:NM_005713:exon8:c.T884C:p.M295T,CERT1:NM_031361:exon8:c.T884C:p.M295T,CERT1:NM_001130105:exon9:c.T1268C:p.M423T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00499293406795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15251	T	0.178	0.30241	T	0.007	0.14184	B	0.019	0.18783	B	0.004661	0.33526	N	0.395003	0.828493	0.41274	D	1.04	0.26193	L	1.6	0.28604	T	-1.91	0.44471	N	0.296	0.33469	-1.0506	0.14230	T	0.044	0.19029	T	10	0.099120736	0.17965	T	0.004993	0.12598	T	0.071	0.20720	0.413	0.45052	0.20808081866	0.20439	0.42728429719511846	0.42645	.	.	0.301730394363	0.10659	T	0.213999	0.57547	T	-0.213894	0.18833	T	-0.545021	0.17806	T	0.102586974231744	0.12639	T	0.737426	0.37107	T	0.032099485	0.03173	0.062276185	0.12159	0.032099485	0.03173	0.062276185	0.12159	-6.103	0.50900	T	.	.	0.197	0.50581	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.273134	0.16720	12.72	0.2447876853878784	0.01084	0.93188	0.57555	D	AEFBI	0.283412	0.39652	N	-0.843963659697295	0.12198	0.5931782	-0.712274010402498	0.16655	0.8821025	0.0247812039370803	0.13603	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	1.95	0.25130	4.276000	0.58729	4.437000	0.43372	-0.757000	0.03535	0.999000	0.42656	0.999000	0.35428	0.054000	0.15518	0.6956:0.1226:0.0648:0.1171	4.900	0.13126	920	0.19381	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	583.33	34	chr5	75411057	.	A	G	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=685;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=1.92;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1124	18	0	1	0
chr5	75597756	75597756	G	A	exonic	POLK	.	nonsynonymous SNV	POLK:NM_001345921:exon13:c.G2297A:p.S766N,POLK:NM_016218:exon14:c.G2495A:p.S832N,POLK:NM_001345922:exon15:c.G2225A:p.S742N	.	485	1020	14	3	0	20	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0008	0.00419329	0.0038	0	0.0011	0	0.0006	0.0017	0.0033	0.0199	0.0033247	514	154602	rs5744716	0.0017	0.0019	0.0013	0.0022	0.0182	0.0017	0.0017	0.0174	0.0170	0.0002	0.0013	0.0090	0	0.0005	0.0088	0.0006	0.0026	0.0182	0.0017	0.0017	0.0013	0.0022	0.0224	0.0015	0.0015	0.0190	0.0177	9.626e-05	0	0.0022	0.0072	0	0.0005	0	0.0011	0.0038	0.0224	1.0	0.02913	T	0.437	0.13441	T	0.012	0.17989	B	0.01	0.21939	B	0.694412	0.06165	N	1.131130	0.997179	0.22763	N	1.59	0.40313	L	1.2	0.56446	T	-0.29	0.11728	N	0.085	0.19593	-0.9870	0.33347	T	0.102	0.37568	T	10	0.0033051372	0.00057	T	.	.	.	0.091	0.26358	.	.	0.590817377016	0.58758	0.09171396030080677	0.09104	0.065937270336	0.07352	0.267375230789	0.05801	T	0.043957	0.26664	T	-0.53052	0.00381	T	-0.520552	0.20239	T	0.0273213745906902	0.01590	T	0.540746	0.19218	T	0.032831915	0.03383	0.055723697	0.09829	0.03630921	0.04440	0.046658907	0.06551	-5.346	0.41464	T	0.2048618929308293	0.27316	0.072	0.12607	B	.;.	.;.	0.966896	0.13438	9.945	0.9859082223313187	0.43375	0.13196	0.17718	N	AEFBI	0.055721	0.10242	N	-0.526963593773139	0.21211	1.124043	-0.508908841069037	0.21910	1.18756	0.948342260403034	0.27796	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.47	4.47	0.53770	-0.004000	0.12813	0.607000	0.19990	-0.106000	0.15538	0.000000	0.06391	0.142000	0.23101	0.331000	0.25224	0.0:0.0:1.0:0.0	14.210	0.65298	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008603	0.000000	0.006793	0.002959	0.000000	0.008621	0.006135	0.022901	0.02632	388.33	28	chr5	75597756	.	G	A	388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.922;DP=508;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.59;SOR=1.061	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,484	18	0	1	0
chr5	75659324	75659324	T	G	exonic	ANKDD1B	.	nonsynonymous SNV	ANKDD1B:NM_001276713:exon10:c.T1038G:p.N346K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0734814375015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	0	1.464e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.18178	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.15161	N	-0.22	0.66474	T	.	.	.	0.229	0.25745	.	.	.	.	.	.	.	0.079598695	0.12823	T	0.073481	0.71800	D	.	.	.	.	0.186928172975	0.18263	0.35437980727877944	0.35351	.	.	0.4091103971	0.26333	T	0.003709	0.03121	T	-0.227257	0.17013	T	-0.564215	0.15983	T	0.176547160203705	0.19015	T	0.834017	0.50309	T	0.12099847	0.28462	0.2302991	0.48128	0.12099847	0.28462	0.2302991	0.48127	-7.696	0.58980	D	.	.	0.442	0.61786	A	.	.	1.302560	0.17048	12.93	0.88522885112440874	0.18043	0.08239	0.14194	N	AEFGI	0.090723	0.18381	N	-0.847197721998318	0.12119	0.5888156	-0.983199924682167	0.10162	0.5100919	0.732302282640372	0.23068	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.38	-4.27	0.03486	-0.123000	0.10586	-1.565000	0.05159	-0.123000	0.13640	0.940000	0.32642	0.001000	0.17328	0.801000	0.37776	0.0:0.5981:0.0:0.4019	14.873	0.70115	951	0.11083	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr5	75659324	.	T	G	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=771;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.077;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1431	18	0	1	0
chr5	75690473	75690473	C	G	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon7:c.G810C:p.Q270H,POC5:NM_001099271:exon8:c.G885C:p.Q295H	.	433	1087	2	0	0	2	0.000919118	.	.	.	2697434	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0135798939672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	1.363e-06	2.757e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.251e-05	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20306	T	0.252	0.23570	T	0.031	0.26188	B	0.032	0.22131	B	0.068947	0.21638	N	0.540943	0.999587	0.20930	N	1.495	0.37439	L	1.97	0.43672	T	-1.67	0.39887	N	0.103	0.17002	-1.0418	0.16770	T	0.078	0.31224	T	10	0.10446766	0.19262	T	0.01358	0.33091	T	0.026	0.05648	0.261	0.20473	0.107399877778	0.10242	0.036242608500534575	0.03571	0.355241053622	0.37286	0.296609461308	0.09896	T	0.003693	0.20413	T	-0.310544	0.07700	T	-0.683852	0.06751	T	0.0573831788661172	0.06750	T	0.774123	0.43084	T	0.034440037	0.03864	0.057626154	0.10508	0.034440037	0.03864	0.057626154	0.10508	-4.655	0.36622	T	.	.	0.187	0.40295	B	.;.;.;.	.;.;.;.	0.755715	0.11254	7.883	0.58431567854926203	0.05992	0.41280	0.26622	N	AEFBI	0.065465	0.12770	N	-1.12520271196974	0.06198	0.2846589	-1.09959368335333	0.07709	0.3760457	3.96555459031743E-4	0.06820	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	-0.318	0.12098	-0.054000	0.11783	-1.925000	0.04487	-0.837000	0.02821	0.733000	0.28953	0.000000	0.08366	0.436000	0.27583	0.0:0.3757:0.191:0.4333	7.007	0.24021	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1206.33	33	chr5	75690473	.	C	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.629;DP=753;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.122;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr5	75702757	75702757	A	G	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.T286C:p.F96L,POC5:NM_001099271:exon5:c.T361C:p.F121L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0486576203862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.075e-06	2.052e-06	1.373e-06	2.787e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.541e-05	0	0.0002	0	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.91255	T	0.496	0.92824	T	0.473	0.73220	P	0.188	0.77487	B	0.000042	0.53742	D	0.164528	0.779508	0.35691	D	2.665	0.77964	M	1.91	0.60361	T	-1.48	0.89534	N	0.122	0.17691	-0.2516	0.76316	T	0.322	0.69082	T	10	0.21796706	0.38424	T	0.048658	0.63470	D	0.143	0.38195	0.212	0.13066	0.753039047814	0.75080	0.3864625305438102	0.38561	0.360073558052	0.37695	0.486249089241	0.36919	T	0.003187	0.14102	T	0.0261812	0.55212	T	-0.200169	0.54630	T	0.943897128105164	0.61951	D	0.873813	0.63622	D	0.09090223	0.21285	0.07746843	0.17261	0.09090223	0.21285	0.07746843	0.17261	-2.059	0.03860	T	.	.	0.859	0.80757	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.056676	0.41036	21.3	0.9931516414390994	0.59166	0.83551	0.42660	D	AEBI	0.148756	0.27270	N	0.32169461854497	0.57264	3.893052	0.3863886829351	0.60725	4.263376	0.999187531201326	0.38681	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	3.134000	0.50233	11.074000	0.85633	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8898:0.0:0.1102:0.0	8.769	0.33879	957	0.09725	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	828.33	36	chr5	75702757	.	A	G	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.152;DP=712;ExcessHet=0;FS=8.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.345;SOR=0.162	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	18	0	1	0
chr5	76285243	76285243	C	T	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon5:c.C995T:p.S332F,SV2C:NM_014979:exon5:c.C995T:p.S332F	.	424	1074	23	1	0	25	0.0115048	.	.	.	2827844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0163521778605	0.0053	0.00219649	0.0046	0.0003	0.0023	0	0.0021	0.0061	0.0078	0.0060	0.0047153	729	154602	rs149463986	0.0059	0.0059	0.0057	0.0060	0.0113	0.0058	0.0057	0.0091	0.0083	0.0008	0.0027	0.0011	2.519e-05	0.0030	0.0113	0.0067	0.0045	0.0060	0.0042	0.0042	0.0043	0.0040	0.0068	0.0039	0.0038	0.0063	0.0061	0.0010	0	0.0039	0.0012	0	0.0023	0.0170	0.0068	0.0062	0.0054	0.175	0.22400	T	0.189	0.29843	T	0.0	0.02946	B	0.005	0.11217	B	0.022539	0.26616	N	0.412562	0.99982	0.49512	D	0.02	0.07987	N	0.39	0.57419	T	-0.57	0.18042	N	0.469	0.50598	-1.0600	0.11756	T	0.041	0.17742	T	10	0.009606004	0.00216	T	0.016352	0.37564	T	0.077	0.22490	.	.	0.405012372841	0.40113	0.8780365303129526	0.87770	0.166212738228	0.18754	0.5557076931	0.46661	T	0.054647	0.40875	T	-0.485639	0.00687	T	-0.463824	0.26184	T	0.00728564009858904	0.00083	T	0.660434	0.26965	T	0.07924424	0.18093	0.09455559	0.22386	0.07924424	0.18093	0.09455559	0.22386	-8.641	0.65359	D	.	.	0.071	0.17146	B	.;.	.;.	1.096062	0.14803	11.34	0.96057149006519471	0.28582	0.21526	0.21433	N	AEFI	0.212130	0.33785	N	-1.16349295452205	0.05561	0.2538508	-1.09862833464109	0.07728	0.3770321	0.0243861509171772	0.13575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.75	-2.21	0.06581	0.447000	0.21428	-0.860000	0.07144	-0.305000	0.06155	0.097000	0.22731	0.000000	0.08366	0.990000	0.65344	0.0:0.3758:0.559:0.0652	13.509	0.60956	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	2172.33	38	chr5	76285243	.	C	T	2172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=800;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.19;SOR=0.768	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	76403579	76403579	C	A	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_006633:exon1:c.C34A:p.P12T	.	.	.	.	.	.	.	.	.	.	.	735192	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	.	0.000998403	0.0012	0	0	0.0257	0	0	0	0	0.0003299	51	154602	rs569312379	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	9.684e-05	0.0037	0.0034	0	0	0	0.0042	0	0	6.469e-06	0.0002	3.827e-05	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0072	0	0	0	0	0.0101	0	0	0	0	0	0.006	0.61437	D	0.094	0.39645	T	0.06	0.23119	B	0.034	0.22546	B	0.000006	0.62929	U	0.000000	0.967767	0.81001	D	2	0.54354	M	4.33	0.02363	T	-2.59	0.55821	D	0.313	0.35301	-0.8780	0.49919	T	0.008	0.02760	T	10	0.006500095	0.00147	T	.	.	.	0.108	0.30607	0.353	0.35246	0.406806705197	0.40296	0.525331418535256	0.52457	0.212166500798	0.23708	0.888910412788	0.95124	D	0.298828	0.67137	T	-0.45182	0.01102	T	-0.40946	0.32288	T	0.234635509651467	0.22170	T	0.858514	0.54939	D	0.45926538	0.64624	0.45106348	0.68059	0.45926538	0.64625	0.45106348	0.68060	-3.643	0.18481	T	.	.	0.39	0.59011	A	.	.	4.403315	0.68060	25.2	0.98912264444585785	0.48399	0.72952	0.35692	D	AEFDGBCIJ	0.272972	0.38848	N	-0.203284253288959	0.32998	1.867289	-0.0750330774943976	0.36427	2.119678	0.999999997023338	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.28	3.28	0.36691	3.453000	0.52743	7.340000	0.58244	0.467000	0.21759	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	10.761	0.45461	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	675.33	37	chr5	76403579	.	C	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.17;DP=671;ExcessHet=0;FS=2.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.18;SOR=1.143	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,911	18	0	1	0
chr5	76618493	76618493	C	G	exonic	F2RL2	.	nonsynonymous SNV	F2RL2:NM_001256566:exon2:c.G148C:p.E50Q,F2RL2:NM_004101:exon2:c.G214C:p.E72Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0112722395922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997108352	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.154	0.28395	T	0.495	0.16280	T	0.022	0.18677	B	0.01	0.14941	B	0.431532	0.04707	N	1.321060	1	0.08975	N	1.845	0.48678	L	-0.07	0.63738	T	-0.51	0.15986	N	0.063	0.05414	-0.9928	0.31880	T	0.164	0.50094	T	10	0.0758363	0.11772	T	0.011272	0.28723	T	0.051	0.14325	0.329	0.31357	0.597098042045	0.59389	0.3401473192216402	0.33927	0.0546206269692	0.06044	0.239340156317	0.02732	T	0.067172	0.33134	T	-0.21587	0.18561	T	-0.547859	0.17532	T	0.0352957895614699	0.02858	T	0.660434	0.26965	T	0.092090495	0.21597	0.045952443	0.06296	0.092090495	0.21597	0.045952443	0.06295	-4.233	0.27226	T	.	.	0.086	0.10931	B	.;.	.;.	1.180046	0.15702	12.04	0.93977807329749996	0.24056	0.15915	0.19142	N	AEFBI	0.265745	0.38281	N	-0.582830629742811	0.19466	1.019021	-0.504063333757843	0.22041	1.195307	0.999846810878649	0.43971	0.562547	0.31514	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.11	2.97	0.33479	0.142000	0.15917	0.446000	0.18474	0.599000	0.40250	0.000000	0.06391	0.054000	0.21897	0.997000	0.79791	0.1164:0.5405:0.1782:0.1648	4.123	0.09586	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1562.33	43	chr5	76618493	.	C	G	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=840;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.61;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	18	0	1	0
chr5	76683907	76683907	C	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon18:c.C2383T:p.L795F,IQGAP2:NM_001285462:exon18:c.C2383T:p.L795F,IQGAP2:NM_001285460:exon29:c.C3745T:p.L1249F,IQGAP2:NM_006633:exon30:c.C3895T:p.L1299F	.	426	1095	1	0	0	1	0.000456413	.	.	.	3455235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.409	0.0848550877045	.	0.000199681	0.0002	0	0	0.0018	0	3.045e-05	0	0.0001	0.0001294	20	154602	rs147002427	1.99e-05	2.052e-05	1.774e-05	2.208e-05	0.0005	1.396e-05	1.207e-05	0.0003	0.0003	0	0	0	0.0005	0	0.0002	1.802e-06	1.66e-05	7.041e-05	3.94e-05	3.937e-05	2.57e-05	5.373e-05	0.0004	1.715e-05	1.129e-05	7.285e-05	3.027e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0.0004	0.003	0.72154	D	0.004	0.74150	D	0.995	0.67487	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	0.55	0.54728	T	-3.44	0.69118	D	0.781	0.77789	-0.1508	0.78896	T	0.382	0.73870	T	10	0.2503633	0.42361	T	0.084855	0.74413	D	0.409	0.72099	.	.	0.69078259148	0.68812	0.6473159303629634	0.64666	0.73479778726	0.62922	0.525489330292	0.42399	T	0.718274	0.92018	D	-0.0068961	0.50700	T	0.166877	0.81222	D	0.576696463267939	0.35491	D	0.922308	0.84427	D	0.53025824	0.68845	0.46354803	0.68859	0.53025824	0.68846	0.46354803	0.68859	-8.821	0.67077	D	.	.	0.265	0.50481	B	.;.;.;.;.	.;.;.;.;.	4.160117	0.62465	24.5	0.99898530653622264	0.97124	0.92658	0.56232	D	AEFBI	0.791635	0.72017	D	0.75116851948602	0.82979	7.899014	0.692374246618893	0.81797	7.611964	0.999999995179738	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620204	0.46100	0	.	.	5.56	5.56	0.83678	3.201000	0.50761	7.591000	0.61250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.8781:0.0:0.1219	12.345	0.54442	860	0.33753	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	918.33	37	chr5	76683907	.	C	T	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.368;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.801;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1149	18	0	1	0
chr5	76695595	76695595	C	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon20:c.C2623T:p.R875W,IQGAP2:NM_001285462:exon20:c.C2623T:p.R875W,IQGAP2:NM_001285460:exon31:c.C3985T:p.R1329W,IQGAP2:NM_006633:exon32:c.C4135T:p.R1379W	.	424	1089	9	0	0	9	0.00411523	.	.	.	710011	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.355	.	0.0003	0.0123802	0.0076	0	0.0335	0.0354	0.0002	0.0003	0.0033	0.0122	0.0072832	1126	154602	rs17681908	0.0031	0.0031	0.0029	0.0032	0.0350	0.0030	0.0030	0.0335	0.0329	0.0004	0.0336	0	0.0350	5.616e-05	0.0021	0.0001	0.0027	0.0145	0.0057	0.0057	0.0043	0.0071	0.0379	0.0053	0.0052	0.0353	0.0343	0.0004	0	0.0379	0	0.0319	9.42e-05	0	0.0002	0.0033	0.0168	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.987	0.77487	D	0.000002	0.62929	D	0.060004	1	0.81001	D	2.655	0.77738	M	0.87	0.46412	T	-5.67	0.87380	D	0.805	0.82964	-0.6236	0.63839	T	0.123	0.42526	T	10	0.008675218	0.00196	T	.	.	.	0.355	0.67600	.	.	0.687758792822	0.68508	0.5823517913760989	0.58164	0.70618830283	0.61436	0.684661030769	0.64938	T	0.421561	0.77292	T	-0.20517	0.20062	T	-0.041726	0.67585	D	0.0596457868355701	0.07112	T	0.988514	0.96773	D	0.8682599	0.88725	0.81556636	0.89255	0.8682599	0.88726	0.81556636	0.89256	-8.362	0.63898	D	.	.	0.360	0.57236	A	.;.;.;.;.	.;.;.;.;.	4.114174	0.61441	24.3	0.99920154667984706	0.98721	0.93183	0.57542	D	AEFDBI	0.891379	0.82728	D	0.539732885805594	0.69459	5.359916	0.45730332659362	0.65190	4.792264	0.9999999816118	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.678554	0.66404	0	.	.	5.7	4.81	0.61401	2.514000	0.45164	1.798000	0.28858	0.530000	0.24713	0.979000	0.35152	0.923000	0.28366	0.934000	0.47231	0.1369:0.8631:0.0:0.0	15.849	0.78694	844	0.36711	RasGAP protein, C-terminal;RasGAP protein, C-terminal;RasGAP protein, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1042.33	34	chr5	76695595	.	C	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=725;ExcessHet=0;FS=3.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.54;SOR=0.93	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1307	18	0	1	0
chr5	76875477	76875477	C	G	exonic	S100Z	.	nonsynonymous SNV	S100Z:NM_130772:exon3:c.C118G:p.R40G	.	427	1079	16	0	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00699134132628	.	0.000599042	0.0007	0.0002	0.0004	0	0	0.0004	0.0011	0.0029	0.0005563	86	154602	rs148288662	0.0004	0.0004	0.0002	0.0005	0.0047	0.0003	0.0003	0.0033	0.0029	3e-05	0.0005	0	0	0	0.0047	0.0002	0.0007	0.0029	0.0003	0.0003	0.0003	0.0002	0.0031	0.0002	0.0002	0.0019	0.0016	4.836e-05	0	0.0004	0	0.0002	0	0	0.0003	0	0.0031	0.195	0.20759	T	0.178	0.29639	T	0.001	0.07471	B	0.004	0.10090	B	0.000947	0.40932	D	0.292079	0.91744	0.27371	N	.	.	.	2.88	0.10291	T	-1.13	0.29114	N	0.206	0.22870	-1.0425	0.16562	T	0.020	0.08500	T	9	0.0090922415	0.00206	T	0.006991	0.18513	T	0.028	0.06331	0.455	0.51938	0.0401082797425	0.02173	0.23419647790370043	0.23334	0.0914821395109	0.10332	0.234789639711	0.02341	T	0.014484	0.12323	T	-0.533223	0.00368	T	-0.543329	0.17970	T	0.0190263335343904	0.00611	T	0.612939	0.23352	T	0.44941223	0.64003	0.14536168	0.34478	0.44941223	0.64004	0.14536168	0.34477	-3.78	0.20506	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.934844	0.13100	9.605	0.97444762284793562	0.33997	0.86350	0.45613	D	ALL	0.594732	0.58956	D	-0.312003994383482	0.28691	1.584653	-0.224416666003622	0.30664	1.728445	0.999999897038449	0.74766	0.497415	0.19182	0	0.405561	0.06353	1	0.503968	0.08637	0	0.542086	0.14980	0	.	.	5.73	2.65	0.30588	2.299000	0.43271	-1.161000	0.06152	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.355000	0.25773	0.5131:0.4022:0.0:0.0848	7.559	0.27007	844	0.36711	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1438.33	39	chr5	76875477	.	C	G	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.17;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.652;SOR=0.723	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr5	76954073	76954073	G	A	exonic	CRHBP	.	nonsynonymous SNV	CRHBP:NM_001882:exon3:c.G220A:p.A74T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0164909750849	0.0014	0.00159744	0.0004	0.0045	8.649e-05	0	0	0	0	0	0.0003558	55	154602	rs115716724	0.0001	0.0001	0.0001	0.0001	0.0050	0.0001	0.0001	0.0044	0.0041	0.0050	8.947e-05	0	0	0	0	0	0.0002	0	0.0011	0.0011	0.0011	0.0012	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	0	0.0009	0	0.117	0.29288	T	0.015	0.63109	D	0.986	0.63424	D	0.732	0.59825	P	0.000021	0.62929	D	0.115882	1	0.81001	D	2.495	0.72670	M	.	.	.	-1.59	0.38345	N	0.6	0.61933	-0.2413	0.76592	T	0.301	0.67242	T	9	0.008745402	0.00198	T	0.016491	0.37771	T	0.267	0.58126	.	.	0.460303613973	0.45655	0.7472788504755675	0.74673	1.22297786382	0.81132	0.552680134773	0.46235	T	0.462631	0.79891	T	-0.132866	0.31032	T	0.0363632	0.72691	D	0.110015458589302	0.13425	T	0.89791	0.64303	D	0.17532623	0.38385	0.22631173	0.47604	0.17532623	0.38385	0.22631173	0.47603	-6.064	0.46811	T	.	.	0.213	0.48561	B	.;.	.;.	4.900203	0.80536	27.3	0.99920715059740128	0.98721	0.93941	0.59637	D	AEFDBHCI	0.952143	0.96734	D	0.635846223663438	0.75456	6.30902	0.582837931148016	0.73710	6.01519	0.999999999931728	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.9	3.9	0.44240	7.299000	0.78160	9.651000	0.81171	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.402	0.83480	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	33	chr5	76954073	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=760;ExcessHet=0;FS=4.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.064;SOR=1.126	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1118	18	0	1	0
chr5	77636984	77636984	G	A	exonic	OTP	.	nonsynonymous SNV	OTP:NM_032109:exon2:c.C284T:p.A95V	.	430	1073	18	1	0	20	0.00923361	.	.	.	2827850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.189	0.041481411508	0.0038	0.00239617	0.0057	0.0005	0.0040	0	0.0011	0.0075	0.0055	0.0073	0.0052263	808	154602	rs148662448	0.0052	0.0052	0.0050	0.0054	0.0146	0.0051	0.0050	0.0121	0.0111	0.0008	0.0041	0.0229	2.519e-05	0.0007	0.0146	0.0051	0.0058	0.0067	0.0039	0.0039	0.0042	0.0037	0.0055	0.0037	0.0036	0.0051	0.0049	0.0012	0	0.0040	0.0222	0	0.0004	0.0068	0.0055	0.0062	0.0041	0.044	0.41096	D	0.265	0.22694	T	0.164	0.28467	B	0.027	0.21085	B	0.777347	0.06633	N	1.125700	0.87462	0.35629	D	0	0.06538	N	-3.77	0.95595	D	-0.89	0.24026	N	0.259	0.29313	-0.2946	0.75136	T	0.614	0.86334	D	10	0.0064309537	0.00146	T	0.041481	0.59948	D	0.189	0.46613	.	.	0.44573540394	0.44196	0.27040516834635187	0.26953	0.857873265978	0.68834	0.600927710533	0.53035	T	0.082963	0.36947	T	-0.286225	0.10017	T	-0.179914	0.56531	T	0.0161223072741637	0.00389	T	0.711029	0.32195	T	0.18169217	0.39352	0.22694777	0.47689	0.18169217	0.39351	0.22694777	0.47688	-5.655	0.43291	T	.	.	0.087	0.11220	B	.	.	3.078151	0.41403	21.3	0.99834735827239218	0.91628	0.96602	0.69965	D	AEFDBHCI	0.706198	0.66133	D	-0.190808562669223	0.33516	1.902364	0.01489791002276	0.40407	2.410867	0.999999798589473	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.42	4.53	0.55009	2.500000	0.45040	5.037000	0.46877	0.676000	0.76740	0.753000	0.29166	1.000000	0.68203	1.000000	0.97212	0.0:0.1428:0.8572:0.0	15.072	0.71718	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.002924	0.000000	0.017241	0.021341	0.003788	0.05263	2308.83	33	chr5	77636984	.	G	A	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.705;DP=784;ExcessHet=0.119;FS=2.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.174;SOR=0.914	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1274	17	0	2	0
chr5	78509910	78509910	T	C	exonic	LHFPL2	.	nonsynonymous SNV	LHFPL2:NM_005779:exon4:c.A304G:p.I102V	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	.	7.7e-05	0.00738818	0.0025	0.0002	0	0.0296	0.0008	0.0003	0.0011	0.0010	0.0023997	371	154602	rs2303654	0.0007	0.0007	0.0008	0.0007	0.0179	0.0007	0.0007	0.0168	0.0163	0.0002	0.0001	0	0.0179	0.0003	0.0003	5.036e-05	0.0028	0.0014	0.0013	0.0013	0.0010	0.0015	0.0314	0.0011	0.0011	0.0274	0.0259	0.0002	0	0.0001	0	0.0314	0	0	0.0001	0.0014	0.0021	0.338	0.12796	T	0.54	0.09760	T	0.689	0.41609	P	0.265	0.39681	B	0.000006	0.62929	D	0.125933	0.999989	0.54805	D	1.715	0.44382	L	-0.58	0.71425	T	-0.44	0.14588	N	0.58	0.60156	-0.7883	0.55828	T	0.120	0.41886	T	10	0.011547178	0.00252	T	.	.	.	0.284	0.60219	.	.	0.372993862945	0.36913	0.6839381374284791	0.68332	0.501433170263	0.48525	0.432927846909	0.29608	T	0.211738	0.57259	T	-0.36717	0.03740	T	-0.271623	0.47654	T	0.037961902614895	0.03325	T	0.816718	0.47282	T	0.10682148	0.25259	0.15999761	0.37287	0.10682148	0.25258	0.15999761	0.37286	-3.177	0.12202	T	.	.	0.089	0.12276	B	.;.	.;.	2.684960	0.35034	19.79	0.9374019207943286	0.23675	0.85897	0.45084	D	AEFDBCI	0.331751	0.43137	N	-0.125228829034082	0.36295	2.09611	-0.0472881749789216	0.37609	2.20429	0.999998652824893	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.662433	0.64102	0	.	.	5.52	5.52	0.82153	3.083000	0.49833	6.209000	0.54989	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.820	0.69694	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2292.83	38	chr5	78509910	.	T	C	2292.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=757;ExcessHet=0.119;FS=2.915;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.35;SOR=0.488	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1164,0,804	17	0	2	0
chr5	78985128	78985136	CCCCGGCGC	-	exonic	ARSB	.	nonframeshift deletion	ARSB:NM_000046:exon1:c.113_121del:p.G38_G40del,ARSB:NM_198709:exon2:c.113_121del:p.G38_G40del	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	3	1490	29	0	0	29	0.00963775	.	.	.	487184	not_specified|Mucopolysaccharidosis_type_6|not_provided	MedGen:CN169374|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0039	0	0.0003	0	0	0.0004	0.0071	0.0193	0.0012548	194	154602	rs550086186	0.0008	0.0008	0.0004	0.0011	0.0124	0.0007	0.0007	0.0117	0.0115	0	0	0	3.291e-05	0	0.0036	6.793e-05	0.0009	0.0124	0.0005	0.0005	0.0002	0.0008	0.0139	0.0004	0.0004	0.0112	0.0102	2.409e-05	0	6.547e-05	0	0	0	0	5.892e-05	0.0009	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1225.29	33	chr5	78985127	.	GCCCCGGCGC	G	1225.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.472;DP=721;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=1.02;SOR=1.041	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1283	18	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	177.35	45	chr5	79044510	.	T	C	177.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.88;DP=1020;ExcessHet=0;FS=83.154;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=2.68;SOR=7.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	18	0	1	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	177.33	45	chr5	79044511	.	G	A	177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.897;DP=917;ExcessHet=0;FS=48.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=-2.575;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	18	0	1	0
chr5	79291295	79291295	A	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon4:c.A1523G:p.E508G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0349945659138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.434e-06	4.104e-06	0	2.902e-06	1.85e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.85e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.14	0.33554	T	0.997	0.70673	D	0.913	0.64886	D	0.000000	0.84330	D	0.051995	1	0.81001	D	1.14	0.29013	L	2.59	0.13317	T	-2.22	0.49846	N	0.567	0.59053	-1.1396	0.01373	T	0.062	0.25851	T	10	0.39356142	0.55064	T	0.034995	0.56052	D	0.257	0.56827	0.125	0.03095	0.102598925029	0.09809	0.35339093683603817	0.35253	.	.	0.730432450771	0.71569	T	0.038743	0.24948	T	-0.0812984	0.39504	T	-0.354556	0.38683	T	0.886327319385495	0.53673	D	0.928807	0.73814	D	0.21005115	0.43290	0.28919798	0.54939	0.21005115	0.43290	0.28919798	0.54938	-6.273	0.48508	T	.	.	0.278	0.51174	B	.	.	5.093402	0.85064	28.5	0.99893978160757779	0.96742	0.99579	0.97647	D	AEFBI	0.884356	0.81398	D	0.577165103524946	0.71750	5.698766	0.596256434435487	0.74671	6.176845	0.998966239708476	0.38084	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	8.404000	0.90093	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.249	0.73221	536	0.73233	JMY/WHAMM, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	264.33	22	chr5	79291295	.	A	G	264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.642;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.98;SOR=0.446	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr5	79730176	79730176	G	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.G1411A:p.A471T	.	427	1093	2	0	0	2	0.000914077	.	.	.	710028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0033	0.00339457	0.0011	0.0125	0.0003	0.0001	0	1.5e-05	0	0.0002	0.0010349	160	154602	rs114134827	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0004	0	5.038e-05	0	0.0010	1.529e-05	0.0008	0.0002	0.0036	0.0036	0.0037	0.0035	0.0125	0.0033	0.0032	0.0116	0.0113	0.0125	0	0.0013	0	0	0	0	4.413e-05	0.0009	0	0.21	0.19639	T	0.304	0.20100	T	0.015	0.17086	B	0.003	0.08700	B	0.656691	0.10464	N	0.816531	1	0.08975	N	1.1	0.28011	L	1.2	0.37405	T	-0.34	0.12661	N	0.029	0.00666	-1.0429	0.16443	T	0.024	0.10058	T	10	0.0029824376	0.00048	T	.	.	.	0.014	0.01968	.	.	0.0666544352282	0.05500	0.08802788127704751	0.08735	0.0549236003361	0.06084	0.207399711013	0.00706	T	0.021115	0.16503	T	-0.677566	0.00050	T	-0.735022	0.04103	T	0.00118470931803227	0.00012	T	0.650635	0.26150	T	0.0397147	0.05534	0.051417917	0.08271	0.0397147	0.05533	0.051417917	0.08271	-3.367	0.14615	T	.	.	0.082	0.08512	B	.	.	1.607207	0.20540	14.80	0.94642733894554965	0.25241	0.06312	0.12308	N	AEFBI	0.057716	0.10774	N	-1.05028844382612	0.07582	0.352692	-1.0135903298489	0.09486	0.4722089	0.998457337744424	0.36996	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.49	2.49	0.29274	0.316000	0.19217	1.439000	0.26511	-0.106000	0.15538	0.000000	0.06391	0.004000	0.18990	0.073000	0.16832	0.3283:0.2464:0.4254:0.0	4.082	0.09407	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1188.33	92	chr5	79730176	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=1363;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.6;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.02632	2678.33	92	chr5	79730516	.	A	C	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=1484;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.108;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr5	79732321	79732321	C	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C3556A:p.P1186T	.	431	1089	2	0	0	2	0.000917431	.	.	.	3305193	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0244767953316	8.2e-05	0.000199681	0.0002	0	0	0.0009	0	1.512e-05	0	0.0009	0.0001746	27	154602	rs374881012	8.006e-05	8.003e-05	5.991e-05	0.0001	0.0010	6.802e-05	6.356e-05	0.0007	0.0007	0	0	0	0.0010	0	0	1.259e-05	6.627e-05	0.0007	6.567e-05	6.561e-05	3.855e-05	9.402e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0004	0	0	0	0	0.0006	0	0	1.47e-05	0	0.0012	0.003	0.68238	D	0.101	0.38596	T	0.055	0.22733	B	0.018	0.18489	B	0.361865	0.13658	N	0.669710	1	0.08975	N	2.175	0.60977	M	-0.31	0.68030	T	-3.23	0.65056	D	0.061	0.03283	-0.8824	0.49569	T	0.227	0.59196	T	10	0.012020856	0.00260	T	0.024477	0.47468	T	0.095	0.27398	.	.	0.360961692134	0.35713	0.21919059478006736	0.21835	0.0849377643601	0.09603	0.254370868206	0.04243	T	0.027822	0.20292	T	-0.437571	0.01336	T	-0.47543	0.24933	T	0.0641904001571184	0.07811	T	0.587941	0.21519	T	0.13908409	0.32142	0.18832499	0.42116	0.13908409	0.32142	0.18832499	0.42115	-4.584	0.31970	T	.	.	0.117	0.23709	B	.	.	2.128461	0.27094	17.35	0.87087231482658645	0.16979	0.04870	0.10609	N	AEFBI	0.049154	0.08462	N	-0.580091651859231	0.19550	1.024068	-0.561494676148193	0.20501	1.10482	0.511507899347391	0.21022	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.81	3.02	0.33970	-0.046000	0.11937	1.937000	0.29806	0.599000	0.40250	0.001000	0.13787	0.918000	0.28264	0.614000	0.31742	0.3458:0.3465:0.3077:0.0	9.503	0.38196	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2206.33	92	chr5	79732321	.	C	A	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.953;DP=1400;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.723;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.02632	1001.33	86	chr5	79734800	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=1245;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.595;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	66.34	86	chr5	79737121	.	T	C	66.34	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.622;DP=1483;ExcessHet=0.7564;FS=179.988;InbreedingCoeff=-0.1331;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.685;SOR=9.967	GT:AD:DP:GQ:PL	0/0:79,0:79:57:0,57,1798	13	0	4	2
chr5	79758776	79758776	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon7:c.C11134T:p.P3712S	.	437	1055	28	2	0	32	0.0149393	.	.	.	413681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0742929937315	0.0019	0.00139776	0.0029	0.0007	0.0042	0	0.0002	0.0036	0.0056	0.0027	0.002749	425	154602	rs61744879	0.0022	0.0022	0.0020	0.0023	0.0331	0.0021	0.0021	0.0292	0.0277	0.0017	0.0039	0.0106	2.555e-05	0.0001	0.0331	0.0018	0.0040	0.0025	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0018	0.0022	0.0020	0.0007	0	0.0029	0.0124	0	9.452e-05	0.0340	0.0023	0.0076	0.0010	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000156	0.49130	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.6	0.53731	T	-5.62	0.86758	D	0.689	0.69474	-0.4306	0.71047	T	0.276	0.64814	T	10	0.0079553425	0.00181	T	0.074293	0.72005	D	0.301	0.62179	.	.	0.622420230759	0.61935	0.46018590125347536	0.45936	0.359342250833	0.37625	0.586560249329	0.51009	T	0.091318	0.38770	T	-0.188122	0.22534	T	-0.0356092	0.67996	D	0.0367943118285224	0.03119	T	0.858514	0.54939	D	0.7099612	0.78605	0.73149425	0.84133	0.7099612	0.78606	0.73149425	0.84134	-7.529	0.57815	D	.	.	0.200	0.42346	B	.	.	3.499703	0.48958	22.7	0.99864377371403934	0.94276	0.98098	0.79581	D	AEFBI	0.696231	0.65464	D	0.765666027885568	0.83920	8.145722	0.754136889735947	0.86466	8.898101	0.999999996582122	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.683000	0.67852	4.799000	0.44955	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.207	0.93720	419	0.81524	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.028701	0.005051	0.036685	0.061404	0.050000	0.051724	0.024390	0.007576	0.05263	2593.83	33	chr5	79758776	.	C	T	2593.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=828;ExcessHet=0.119;FS=0.482;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.287;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1202	17	0	2	0
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	1213.33	33	chr5	79791029	.	G	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=755;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.385;SOR=0.472	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr5	79799546	79799546	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon13:c.C12140T:p.A4047V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0664230145224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.037	0.51737	D	0.996	0.68779	D	0.945	0.68163	D	.	.	.	.	0.999893	0.50595	D	1.4	0.35362	L	-0.38	0.69027	T	-2.71	0.57762	D	0.709	0.71232	-0.3066	0.74801	T	0.379	0.73587	T	9	0.84493357	0.83656	D	0.066423	0.69870	D	0.472	0.76554	0.76	0.88892	0.533614126537	0.53011	0.4911492046690527	0.49035	0.33197734677	0.35261	0.530116558075	0.43050	T	0.066126	0.32865	T	0.130093	0.67370	D	-0.0509064	0.66961	D	0.930962383747101	0.59601	D	0.79842	0.44325	T	0.208296	0.43061	0.25217816	0.50842	0.208296	0.43061	0.25217816	0.50842	-5.667	0.43399	T	.	.	0.439	0.61654	A	.	.	4.053130	0.60094	24.2	0.99879110541977578	0.95572	0.88070	0.47840	D	AEFBI	0.385258	0.46607	N	0.642481144038483	0.75883	6.385366	0.668385866541627	0.79988	7.199791	0.999916452027007	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	2.304000	0.43315	7.673000	0.64890	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.931:0.0:0.069	14.602	0.68048	516	0.74704	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	35	chr5	79799546	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=710;ExcessHet=0;FS=4.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.07;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	80513649	80513649	G	A	exonic	FAM151B	.	nonsynonymous SNV	FAM151B:NM_205548:exon3:c.G197A:p.G66E	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00543392758171	0.0005	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0	0.0003816	59	154602	rs139629089	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0008	0.0001	0.0011	0.0008	0	0	0.0017	0.0003	0.0006	5.797e-05	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0004	0.0020	0.0018	2.407e-05	0	0.0027	0.0014	0	0	0.0034	0.0003	0.0005	0.0002	0.069	0.35537	T	0.281	0.21612	T	0.039	0.21116	B	0.028	0.21332	B	0.007237	0.31521	N	0.386077	0.911755	0.27491	N	0.775	0.19437	N	2.81	0.10975	T	-2.48	0.54059	N	0.163	0.17140	-1.0216	0.23195	T	0.013	0.05129	T	10	0.0083349645	0.00189	T	0.005434	0.13954	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.4701767454435021	0.46936	0.146686632738	0.16557	0.286569654942	0.08425	T	0.010352	0.09352	T	-0.612015	0.00123	T	-0.744629	0.03699	T	0.0114656052533619	0.00172	T	0.628437	0.24364	T	0.10101609	0.23857	0.11229566	0.27095	0.10101609	0.23857	0.11229566	0.27094	-5.62	0.42975	T	.	.	0.079	0.07318	B	.	.	2.012169	0.25571	16.81	0.82911332837642193	0.14441	0.28403	0.23544	N	AEFBI	0.058793	0.11057	N	-0.833801359502692	0.12453	0.6070645	-0.790363201224241	0.14731	0.7712563	0.00275098546584675	0.09676	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.04	1.76	0.23776	0.776000	0.26365	3.709000	0.39550	-0.153000	0.12021	0.010000	0.18352	1.000000	0.68203	0.316000	0.24877	0.2876:0.1487:0.5637:0.0	5.531	0.16271	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	33	chr5	80513649	.	G	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=711;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.174;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1410	18	0	1	0
chr5	80558798	80558798	T	C	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.A1222G:p.K408E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0015	0.0164	0.0006	0	0	4.498e-05	0.0022	0	0.0014101	218	154602	rs149898495	0.0005	0.0005	0.0006	0.0003	0.0165	0.0004	0.0004	0.0154	0.0150	0.0165	0.0009	0	0	0	0.0009	7.194e-06	0.0009	4.638e-05	0.0047	0.0047	0.0049	0.0045	0.0161	0.0044	0.0043	0.0151	0.0147	0.0161	0	0.0023	0	0	0	0	2.94e-05	0.0047	0	0.005	0.63226	D	0.103	0.38305	T	0.919	0.50927	P	0.375	0.43710	B	0.000170	0.48594	U	0.074451	0.983449	0.40015	D	2.19	0.61577	M	2.2	0.18570	T	-1.44	0.35399	N	0.208	0.23125	-1.1382	0.01427	T	0.030	0.12760	T	10	0.0033808947	0.00059	T	.	.	.	0.069	0.20116	.	.	0.31291088546	0.30898	0.40553208068515195	0.40469	0.211339346055	0.23642	0.385599881411	0.23047	T	0.036236	0.24027	T	-0.520365	0.00438	T	-0.507271	0.21597	T	0.0331483546271928	0.02497	T	0.767723	0.39623	T	0.22721113	0.45417	0.2636781	0.52177	0.22721113	0.45417	0.2636781	0.52176	-2.864	0.08788	T	.	.	0.124	0.25946	B	.	.	2.634715	0.34271	19.58	0.99499342846332661	0.67916	0.97893	0.77924	D	AEFBI	0.767902	0.70362	D	0.276144052896365	0.54942	3.658775	0.295085807309439	0.55252	3.688393	0.999928642228343	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.63	5.63	0.86108	4.438000	0.59704	5.845000	0.50284	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:0.0:0.0:1.0	14.685	0.68650	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1522.33	34	chr5	80558798	.	T	C	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.005;DP=740;ExcessHet=0;FS=4.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-2.03;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr5	80558974	80558974	G	A	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.C1046T:p.T349I	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00327143823756	.	0.000399361	0.0002	0	0	0	0	8.994e-05	0	0.0011	0.0001682	26	154602	rs143937500	0.0001	0.0001	6.125e-05	0.0002	0.0014	9.603e-05	9.082e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0014	4.496e-05	0.0001	0.0011	4.596e-05	4.593e-05	3.854e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0004	0.428	0.09600	T	0.304	0.20100	T	0.017	0.17573	B	0.013	0.16460	B	0.641070	0.05868	N	1.223500	0.999	0.21398	N	1.3	0.32576	L	2.44	0.15145	T	-1.78	0.42001	N	0.043	0.01577	-1.0214	0.23259	T	0.040	0.17191	T	10	0.004984379	0.00107	T	0.003271	0.07237	T	0.068	0.19811	.	.	0.162503812791	0.15892	0.19691783316738778	0.19608	0.115681763557	0.13049	0.331651449203	0.15183	T	0.01743	0.14224	T	-0.476854	0.00772	T	-0.503296	0.22007	T	0.00892529376935338	0.00111	T	0.471453	0.13989	T	0.07135067	0.15790	0.07866496	0.17641	0.07135067	0.15789	0.07866496	0.17640	-4.345	0.28802	T	.	.	0.110	0.21011	B	.	.	1.232713	0.16276	12.43	0.60916525105411512	0.06580	0.50154	0.28597	D	AEFBI	0.166035	0.29258	N	-0.53807284858152	0.20859	1.102784	-0.492744082543391	0.22353	1.213677	0.0184276672234629	0.13057	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.36	3.57	0.40014	1.473000	0.34995	1.772000	0.28642	0.676000	0.76740	0.005000	0.17040	0.007000	0.19602	0.961000	0.51904	0.2388:0.0:0.7612:0.0	8.423	0.31876	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	878.33	34	chr5	80558974	.	G	A	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.047;DP=749;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.697;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1830,0,1243	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	1/0:0,49:82:99:2800,953,1238	9	1	8	1
chr5	80654891	80654891	C	A	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.C164A:p.A55E	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	954209	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0150061477337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-06	1.279e-06	0	2.749e-06	1.771e-06	0	0	.	.	0	0	0	0	0	0	1.771e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.47	0.12246	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	0.978762	0.25227	N	0	0.06538	N	-2.32	0.87830	D	0.75	0.02007	N	0.242	0.27316	-0.8064	0.54766	T	0.356	0.71912	T	6	0.10564113	0.19536	T	0.015006	0.35490	T	0.182	0.45420	0.373	0.38503	0.765572037222	0.76343	0.31866913252645906	0.31779	0.0283626076995	0.02914	0.618595957756	0.55530	T	0.104375	0.41389	T	-0.0061406	0.50804	T	-0.246597	0.50153	T	0.0685839621957088	0.08451	T	0.194181	0.02102	T	0.12030372	0.28312	0.36320138	0.61711	0.12030372	0.28311	0.36320138	0.61710	-8.402	0.63778	D	.	.	0.143	0.31431	B	.	.	0.627508	0.09959	6.716	0.88068106490986386	0.17692	0.05694	0.11614	N	AEFGBHCIJ	0.048195	0.08198	N	-1.23609767489749	0.04486	0.2025773	-1.33729953684814	0.03958	0.1856994	0.999999999945602	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	.	.	.	0.000000	0.12910	0.075000	0.14313	0.000000	0.17513	0.012000	0.18695	0.662000	0.26021	0.062000	0.16114	.	.	.	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	937.8	51	chr5	80654891	.	C	A	937.8	.	AC=1;AF=0.028;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=1;MLEAF=0.028;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:0,33:82:99:2800,1942,1902	17	0	1	1
chr5	80654905	80654905	G	C	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.G178C:p.A60P	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	516	765	147	13	81	254	0.101585	.	.	.	623004	not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|Constitutional_megaloblastic_anemia_with_severe_neurologic_disease	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	Cavernous_sinus_meningioma	MONDO:MONDO:0002996,MedGen:C1332865	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	0.220	.	.	0.0207668	0.0123	0.0041	0.0068	0.0047	0.0046	0.0162	0.0290	0.0093	0.0086674	1340	154602	rs2001675	0.0093	0.0093	0.0093	0.0092	0.0146	0.0091	0.0091	0.0121	0.0111	0.0032	0.0045	0.0159	0.0065	0.0048	0.0146	0.0099	0.0086	0.0069	0.0095	0.0091	0.0103	0.0088	0.0139	0.0090	0.0088	0.0131	0.0127	0.0050	0	0.0039	0.0192	0.0021	0.0050	0.0165	0.0139	0.0160	0.0085	1.0	0.00964	T	0.308	0.19845	T	0.131	0.27154	B	0.07	0.27859	B	.	.	.	.	3.9078e-08	0.58761	P	0	0.06538	N	-2.23	0.87116	D	0.72	0.02099	N	0.246	0.27792	-1.1240	0.02093	T	0.000	0.00075	T	7	0.0024684668	0.00037	T	.	.	.	0.220	0.51569	.	.	.	.	0.22548222237945684	0.22463	0.0300485160316	0.03099	0.584103405476	0.50664	T	0.076215	0.35366	T	-0.357316	0.04284	T	-0.271756	0.47641	T	0.00287325160120042	0.00030	T	0.214779	0.02659	T	0.07356919	0.16447	0.17325433	0.39639	0.07559062	0.17040	0.17325433	0.39638	-5.993	0.46221	T	.	.	0.081	0.08465	B	.	.	1.027988	0.14078	10.65	0.7648625718472859	0.11487	0.08520	0.14438	N	AEFGBHCIJ	0.100693	0.20241	N	-1.1288704806175	0.06134	0.2815814	-1.15061482071042	0.06757	0.3263275	0.999999999949268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.67	-0.189	0.12608	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.003000	0.16062	0.349000	0.24462	0.046000	0.14843	0.0:0.0:0.6183:0.3817	8.804	0.34086	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.090522	0.147727	0.077348	0.080420	0.150000	0.045455	0.075472	0.073077	0.02632	3384.51	24	chr5	80654905	.	G	C	3384.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.23;DP=1080;ExcessHet=1.3;FS=5.971;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.434;SOR=1.026	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr5	80744572	80744572	C	T	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon12:c.C1720T:p.R574W	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	634244	not_provided|Endometrial_carcinoma|Familial_adenomatous_polyposis_4|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.885	0.324493768091	.	.	6.101e-05	0	0	0.0007	0	1.583e-05	0	0	4.53e-05	7	154602	rs771054581	1.847e-05	1.847e-05	1.498e-05	2.201e-05	0.0002	1.265e-05	1.084e-05	8.204e-05	5.788e-05	0	2.236e-05	0	0.0002	1.874e-05	0	1.349e-05	3.312e-05	1.16e-05	3.95e-05	3.943e-05	3.86e-05	4.044e-05	0.0001	1.718e-05	1.131e-05	4.749e-05	3.06e-05	0.0001	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.983026	0.39963	D	3.77	0.95173	H	-4.09	0.96627	D	-7.86	0.96085	D	0.953	0.96187	1.093	0.99374	D	0.951	0.98392	D	9	0.98348045	0.98486	D	0.324494	0.91572	D	0.885	0.96651	.	.	0.97876564875	0.97853	0.7802403447628053	0.77975	0.217162788132	0.24230	0.563206195831	0.47720	T	0.911097	0.98326	D	0.313508	0.84004	D	0.521424	0.95072	D	0.990942060947418	0.81186	D	0.987701	0.95793	D	0.92748785	0.93986	0.7463329	0.85006	0.92748785	0.93986	0.7463329	0.85007	-14.219	0.93746	D	.	.	0.548	0.66691	A	.	.	4.713166	0.75742	26.4	0.99914287706023341	0.98309	0.84724	0.43811	D	AEFDBI	0.343709	0.43943	N	0.618451143256694	0.74341	6.116419	0.521856118143974	0.69463	5.364003	0.521378417548095	0.21099	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.86	4.01	0.45821	1.169000	0.31480	2.847000	0.35116	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4228:0.5771:0.0:0.0	13.507	0.60947	746	0.52331	DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2411.33	33	chr5	80744572	.	C	T	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.526;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.641;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	18	0	1	0
chr5	81330500	81330500	A	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.T1562C:p.F521S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0172467173071	.	.	8.247e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs753609339	4.104e-06	4.104e-06	5.445e-06	2.75e-06	1.799e-06	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	6.623e-05	0	6.569e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.008	0.67890	D	0.804	0.45171	P	0.446	0.45959	B	0.000090	0.51296	D	0.133902	0.944634	0.37456	D	2.74	0.80084	M	2.5	0.14408	T	-1.66	0.39692	N	0.701	0.70527	-1.1454	0.01169	T	0.054	0.22846	T	10	0.67013615	0.70663	D	0.017247	0.38871	T	0.311	0.63269	0.668	0.80602	0.333651784274	0.32972	0.6162490549971875	0.61556	0.47555306322	0.46728	0.58992266655	0.51483	T	0.064804	0.32529	T	0.115881	0.65955	D	-0.0713221	0.65531	T	0.93635618686676	0.60529	D	0.677032	0.28590	T	0.22196642	0.44786	0.3355797	0.59370	0.22196642	0.44786	0.3355797	0.59370	-8.415	0.63864	D	.	.	0.573	0.67777	P	.	.	4.575090	0.72214	25.8	0.99857492088992883	0.93639	0.93361	0.58011	D	AEFI	0.847741	0.76458	D	0.517032877666889	0.68096	5.170487	0.5592095757513	0.72042	5.747621	0.926991276668426	0.26871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	6.049000	0.70682	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	12.434	0.54924	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	33	chr5	81330500	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=732;ExcessHet=0;FS=3.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.988;SOR=1.044	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.016304	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	1048.33	33	chr5	81330515	.	C	G	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.161;DP=693;ExcessHet=0;FS=4.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.723;SOR=1.29	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr5	83539713	83539713	C	T	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.C3749T:p.P1250L,VCAN:NM_004385:exon8:c.C6710T:p.P2237L	Wagner syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1375974	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0192579653006	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs778668390	8.896e-06	8.893e-06	8.17e-06	9.629e-06	2.987e-05	4.96e-06	3.83e-06	4.55e-06	3.32e-06	2.987e-05	2.238e-05	0	0	0	0	8.993e-06	1.656e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.013	0.63109	D	0.14	0.30243	B	0.019	0.24114	B	0.326842	0.14179	N	0.676716	0.99999	0.08975	N	1.81	0.47622	L	1.48	0.31731	T	-2.58	0.59389	D	0.126	0.11912	-1.0204	0.23584	T	0.062	0.25708	T	10	0.062107623	0.07889	T	0.019258	0.41574	T	0.027	0.05988	0.297	0.26202	0.128874641272	0.12493	0.29398655005097624	0.29311	0.0908748881395	0.10259	0.291515260935	0.09142	T	0.570414	0.85766	D	-0.216729	0.18442	T	-0.549092	0.17414	T	0.175750508904457	0.18963	T	0.684832	0.29327	T	0.047316223	0.08068	0.060001582	0.11357	0.047316223	0.08068	0.060001582	0.11356	-3.111	0.11656	T	.	.	0.103	0.18497	B	.;.	.;.	1.477524	0.19022	14.05	0.9895368596622518	0.49189	0.10143	0.15730	N	AEFBI	0.096856	0.19545	N	-0.794706131064358	0.13446	0.6625123	-0.82518672020895	0.13886	0.7227197	0.999908719018269	0.45458	0.706548	0.73137	0	0.624146	0.53433	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.93	3.14	0.35196	0.641000	0.24411	0.689000	0.20746	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2685:0.5958:0.0:0.1357	6.362	0.20640	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2370.33	170	chr5	83539713	.	C	T	2370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=1695;ExcessHet=0;FS=7.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.751;SOR=0.881	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.02632	854.33	34	chr5	87363477	.	A	G	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=737;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.68;SOR=0.637	GT:AD:DP:GQ:PL	0/1:51,43:94:99:868,0,1180	18	0	1	0
chr5	87401730	87401730	G	C	exonic	CCNH	.	nonsynonymous SNV	CCNH:NM_001199189:exon6:c.C573G:p.C191W,CCNH:NM_001239:exon6:c.C732G:p.C244W,CCNH:NM_001363539:exon6:c.C732G:p.C244W,CCNH:NM_001364075:exon6:c.C732G:p.C244W,CCNH:NM_001364076:exon6:c.C573G:p.C191W	.	602	919	1	0	0	1	0.000543774	.	.	.	2204967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00938672494283	.	.	0.0001	0	0.0001	0	0	1.935e-05	0	0.0007	7.76e-05	12	154602	rs750525738	6.954e-05	7.593e-05	4.843e-05	9.087e-05	0.0009	5.808e-05	5.414e-05	0.0007	0.0007	0	0	0	0	0	0.0005	1.361e-05	0.0001	0.0009	3.953e-05	3.944e-05	1.287e-05	6.748e-05	0.0008	1.719e-05	1.132e-05	0.0003	0.0002	0	0	6.557e-05	0	0	0	0	1.472e-05	0	0.0008	0.021	0.49117	D	0.196	0.27943	T	0.623	0.39993	P	0.071	0.27960	B	0.016548	0.27949	N	0.411772	0.999945	0.51968	D	1.61	0.41143	L	0.88	0.46028	T	-1.52	0.36980	N	0.556	0.58543	-1.0071	0.27819	T	0.070	0.28642	T	10	0.16763073	0.31268	T	0.009387	0.24623	T	0.072	0.21020	0.477	0.55502	0.652220884204	0.64932	.	.	0.371723212571	0.38671	0.469582855701	0.34622	T	0.015242	0.13680	T	-0.361691	0.04035	T	-0.362479	0.37765	T	0.0989074558019638	0.12237	T	0.858314	0.54891	D	0.23722918	0.46584	0.24669379	0.50185	0.23722918	0.46584	0.24669379	0.50184	-7.49	0.57540	T	.	.	0.188	0.40554	B	.;.;.	.;.;.	3.184329	0.43240	21.7	0.98734925075314095	0.45408	0.92258	0.55299	D	AEFBI	0.573235	0.57650	D	0.0833034059479651	0.45685	2.820883	0.187665516611671	0.49169	3.123481	0.999999065458519	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.0	3.87	0.43823	0.933000	0.28497	3.181000	0.36657	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1187:0.0:0.8813:0.0	12.127	0.53223	581	0.69614	Cyclin, C-terminal domain 2;Cyclin, C-terminal domain 2;Cyclin, C-terminal domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	682.33	34	chr5	87401730	.	G	C	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.166;DP=658;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.382;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	18	0	1	0
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V,TMEM161B:NM_001349402:exon6:c.C77T:p.A26V,TMEM161B:NM_001349403:exon6:c.C77T:p.A26V,TMEM161B:NM_001289007:exon7:c.C623T:p.A208V,TMEM161B:NM_001349400:exon7:c.C77T:p.A26V,TMEM161B:NM_001349407:exon7:c.C623T:p.A208V,TMEM161B:NM_153354:exon7:c.C623T:p.A208V,TMEM161B:NM_001289008:exon8:c.C590T:p.A197V	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0072665829932	0.0057	0.00219649	0.0051	0.0019	0.0022	0	0.0008	0.0077	0.0046	0.0051	0.0041073	635	154602	rs62369771	0.0066	0.0067	0.0066	0.0066	0.0076	0.0065	0.0064	0.0075	0.0075	0.0008	0.0024	0.0024	2.541e-05	0.0014	0.0064	0.0076	0.0063	0.0047	0.0043	0.0043	0.0046	0.0040	0.0073	0.0040	0.0039	0.0068	0.0066	0.0012	0.0055	0.0035	0.0023	0.0002	0.0001	0	0.0073	0.0058	0.0048	0.417	0.25055	T	0.419	0.30143	T	0.202	0.29746	B	0.034	0.22546	B	0.000001	0.84330	D	0.095843	1	0.81001	D	2.33	0.66821	M	.	.	.	-1.89	0.44094	N	0.653	0.66358	-0.7949	0.55444	T	0.171	0.51181	T	9	0.008586347	0.00194	T	0.007267	0.19280	T	0.165	0.42395	.	.	0.0884992946249	0.08302	0.6433211322886058	0.64267	0.248921944762	0.27465	0.683779478073	0.64812	T	0.014186	0.23310	T	-0.117284	0.33568	T	0.0635991	0.74484	D	0.0249990377957096	0.01273	T	0.849515	0.54741	T	0.2779578	0.50851	0.28916922	0.54936	0.2779578	0.50851	0.28916922	0.54935	-7.777	0.59540	D	.	.	0.139	0.49711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362878	0.46435	22.3	0.97995278038187272	0.37431	0.99117	0.91475	D	AEFBI	0.870694	0.79176	D	0.111682650628339	0.47007	2.932562	0.27609114928051	0.54148	3.581	0.999999602734535	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.345000	0.78576	10.003000	0.83052	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.422	0.94717	767	0.49651	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007071	0.005155	0.002725	0.002924	0.000000	0.017241	0.009146	0.015152	0.02632	284.34	27	chr5	88206475	.	G	A	284.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=558;ExcessHet=0;FS=0;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.134;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,555	18	0	1	0
chr5	90622643	90622643	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.T500C:p.M167T	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1517	5	0	0	5	0.00164528	.	.	.	1155226	ADGRV1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.109	0.0123590473518	8.3e-05	0.000399361	0.0011	0	0.0004	0	0	0.0002	0	0.0050	0.0004204	65	154602	rs201758835	0.0002	0.0003	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	1.996e-05	0.0005	3.077e-05	0.0001	0.0037	0.0001	0.0001	5.14e-05	0.0002	0.0029	7.086e-05	5.743e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.41e-05	0	0.0029	0.005	0.63226	D	0.12	0.69154	T	0.001	0.07471	B	0.012	0.16012	B	0.000001	0.62929	D	0.056320	0.874035	0.35619	D	.	.	.	0.92	0.44461	T	-0.62	0.18248	N	0.309	0.34874	-1.0849	0.06426	T	0.068	0.27913	T	10	0.009497881	0.00214	T	0.012359	0.30863	T	0.109	0.30843	.	.	0.535584383668	0.53208	0.5680420340445862	0.56732	0.0526653030617	0.05800	0.38083165884	0.22374	T	0.079986	0.36257	T	-0.487832	0.00668	T	-0.474669	0.25014	T	0.161857144073736	0.18008	T	0.19678	0.06490	T	0.29759622	0.52688	0.21308935	0.45805	0.29970396	0.52878	0.2199799	0.46756	-4.049	0.24534	T	.	.	0.272	0.50609	B	.;.;.	.;.;.	2.399188	0.30823	18.55	0.96638913245512037	0.30545	0.99065	0.90713	D	AEFBI	0.893014	0.83052	D	-0.147813536092463	0.35328	2.027793	0.0557143584712965	0.42349	2.559906	0.99999995856737	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.604000	0.82059	4.931000	0.46129	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.0:1.0	16.234	0.82186	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	691.33	46	chr5	90622643	.	T	C	691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.293;SOR=0.68	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1182	18	0	1	0
chr5	90635237	90635237	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon10:c.C1963T:p.L655F	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0491151496643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.173	0.30143	T	0.716	0.42206	P	0.155	0.34417	B	0.024389	0.26271	N	0.427868	0.993925	0.23621	N	.	.	.	1.57	0.29342	T	-1.21	0.30762	N	0.045	0.01740	-0.9620	0.38800	T	0.151	0.47997	T	10	0.15350679	0.28974	T	0.049115	0.63672	D	0.053	0.14996	0.466	0.53729	0.34854441366	0.34469	0.45116344997794294	0.45034	0.0809948497444	0.09117	0.253761529922	0.04174	T	0.123302	0.44758	T	-0.232181	0.16362	T	-0.571289	0.15331	T	0.248890489339828	0.22823	T	0.845715	0.52486	T	0.06410902	0.13569	0.07240352	0.15617	0.06410902	0.13568	0.07240352	0.15617	-4.781	0.34369	T	.	.	0.098	0.16099	B	.;.	.;.	0.856573	0.12288	8.830	0.99022981315763647	0.50613	0.69281	0.34126	D	AEFBI	0.243648	0.36489	N	-0.356463562854126	0.27035	1.480166	-0.366999757770746	0.25988	1.432621	0.999791582757057	0.43153	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	4.77	-2.26	0.06478	1.096000	0.30587	-0.326000	0.09927	-0.174000	0.10959	0.891000	0.31220	0.002000	0.18203	0.991000	0.66497	0.5583:0.3712:0.0705:0.0	9.739	0.39575	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	85	chr5	90635237	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.723;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	18	0	1	0
chr5	90689978	90689978	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon30:c.T6608C:p.V2203A	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1470	51	1	0	53	0.017708	.	.	YES	55519	Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.355	.	0.0018	0.00239617	0.0034	0.0001	0.0009	0	0.0004	0.0032	0.0091	0.0098	0.0023544	364	154602	rs200055351	0.0022	0.0022	0.0019	0.0024	0.0184	0.0021	0.0021	0.0156	0.0145	0.0004	0.0008	0.0073	0	0.0010	0.0184	0.0016	0.0038	0.0090	0.0016	0.0016	0.0015	0.0017	0.0106	0.0014	0.0014	0.0083	0.0074	0.0003	0	0.0007	0.0095	0	0.0004	0.0272	0.0018	0.0038	0.0106	0.002	0.72154	D	0.004	0.74150	D	0.194	0.29493	B	0.249	0.38982	B	0.000861	0.41440	D	0.246545	0.999658	0.48079	D	.	.	.	1.13	0.38556	T	-3.38	0.66780	D	0.761	0.75927	-0.7245	0.59239	T	0.190	0.54198	T	10	0.009311885	0.00210	T	.	.	.	0.355	0.67600	.	.	0.706577926717	0.70402	0.6962042043904647	0.69561	0.0558218804441	0.06170	0.449944078922	0.31936	T	0.182942	0.53512	T	-0.328345	0.06238	T	-0.238307	0.50964	T	0.0525185356157373	0.05937	T	0.729427	0.34485	T	0.4285325	0.62656	0.5772997	0.75507	0.5112676	0.67754	0.55358535	0.74184	-10.066	0.74306	D	.	.	0.798	0.78051	P	.;.;.	.;.;.	3.371981	0.46602	22.3	0.99857624987460625	0.93639	0.99105	0.91299	D	AEFBI	0.896823	0.83830	D	0.37838958595883	0.60253	4.212213	0.467032345042676	0.65816	4.872094	0.999999999999443	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	7.742000	0.83928	7.899000	0.73451	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.384	0.74403	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014661	0.010204	0.014946	0.032353	0.000000	0.025862	0.006135	0.007576	0.02632	1676.33	33	chr5	90689978	.	T	C	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.682;DP=752;ExcessHet=0;FS=3.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.5;SOR=1.026	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1250	18	0	1	0
chr5	90779004	90779004	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon64:c.G12989A:p.R4330K	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	1	1519	2	0	0	2	0.000657895	.	.	.	654407	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00556402836181	.	0.000599042	0.0006	0	0	0	0	0	0	0.0046	0.000511	79	154602	rs532605331	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	2.99e-05	0	0	0	0	0	1.17e-05	0.0002	0.0046	9.2e-05	9.188e-05	3.857e-05	0.0001	0.0029	5.528e-05	4.365e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.909	0.02372	T	0.924	0.02835	T	0.011	0.15914	B	0.016	0.17743	B	0.822170	0.09170	N	0.930810	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.16	0.09460	N	0.124	0.11626	-1.0259	0.21788	T	0.034	0.14464	T	10	0.00812155	0.00184	T	0.005564	0.14349	T	0.021	0.04004	0.57	0.69299	0.12205267543	0.11705	0.28335879551702153	0.28248	0.0485524178802	0.05306	0.253803789616	0.04179	T	0.072559	0.34484	T	-0.642866	0.00080	T	-0.695531	0.06073	T	0.0125205970084323	0.00207	T	0.305069	0.05837	T	0.04470809	0.07193	0.037301484	0.03355	0.04470809	0.07192	0.037301484	0.03355	-3.152	0.11903	T	.	.	0.078	0.11317	B	.;.;.	.;.;.	-0.969799	0.00815	0.027	0.58317433659733053	0.05966	0.07169	0.13194	N	AEFBI	0.087862	0.17815	N	-1.4265910955155	0.02407	0.1062583	-1.44011872056272	0.02861	0.1323857	0.00229091767094435	0.09294	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.6	-5.25	0.02567	-1.678000	0.02044	-6.004000	0.01526	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.467000	0.28274	0.1534:0.4379:0.1749:0.2338	2.799	0.05076	657	0.62240	.;.;Na-Ca exchanger/integrin-beta4|Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2800.33	42	chr5	90779004	.	G	A	2800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=807;ExcessHet=0;FS=1.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.732;SOR=0.825	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	18	0	1	0
chr5	90811188	90811188	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon74:c.C15928T:p.R5310C	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	1980435	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.010586042474	.	.	1.712e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777578222	4.79e-06	4.788e-06	5.446e-06	4.127e-06	0.0001	1.99e-06	1.28e-06	4.362e-05	2.769e-05	0	0.0001	0	0	0	0	1.799e-06	0	0	6.579e-06	6.57e-06	1.286e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.036	0.43393	D	0.062	0.45318	T	0.022	0.18677	B	0.005	0.11217	B	0.624294	0.05774	N	1.167380	0.968031	0.38633	D	.	.	.	1.66	0.27486	T	-2.21	0.49684	N	0.129	0.12341	-1.0196	0.23845	T	0.134	0.44759	T	9	0.10988912	0.20517	T	0.010586	0.27302	T	0.064	0.18567	0.515	0.61459	0.444605663662	0.44078	0.4803555091698151	0.47955	0.101123719384	0.11430	0.20775295794	0.00720	T	0.089921	0.38475	T	-0.3536	0.04505	T	-0.519996	0.20296	T	0.347642451524734	0.26926	T	0.735226	0.35154	T	0.14622216	0.33484	0.11013937	0.26552	0.14622216	0.33483	0.11013937	0.26551	-7.973	0.60886	D	.	.	0.092	0.22282	B	.;.;.	.;.;.	3.729639	0.53349	23.4	0.99753279184285404	0.84460	0.48473	0.28215	N	AEFBI	0.204939	0.33133	N	-0.119241329505019	0.36556	2.114563	-0.152492002445143	0.33313	1.904255	6.98578482032823E-4	0.07645	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.47	3.47	0.38831	1.463000	0.34887	1.951000	0.29885	0.599000	0.40250	0.823000	0.30032	0.858000	0.27459	0.884000	0.42379	0.4269:0.5731:0.0:0.0	12.969	0.57900	769	0.49307	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1532.33	36	chr5	90811188	.	C	T	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.179;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	0	1	0
chr5	90840983	90840983	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon78:c.A17017G:p.K5673E	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1509	4	0	6	10	0.00132363	0.0007	0.01	.	55453	Usher_syndrome_type_2C|not_specified|ADGRV1-related_disorder|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0163956375375	0.0030	0.00139776	0.0041	0.0008	0.0006	0	0.0034	0.0063	0.0013	0.0004	0.0037322	577	154602	rs41303350	0.0045	0.0041	0.0044	0.0045	0.0051	0.0044	0.0043	0.0050	0.0050	0.0007	0.0007	0.0003	0	0.0033	0.0014	0.0051	0.0035	0.0004	0.0025	0.0025	0.0027	0.0023	0.0041	0.0023	0.0022	0.0037	0.0036	0.0009	0.0154	0.0008	0	0	0.0027	0.0034	0.0041	0.0038	0.0002	0.007	0.59928	D	0.008	0.67890	D	0.748	0.43202	P	0.283	0.40424	B	0.000000	0.84330	D	0.043616	0.917929	0.58761	D	.	.	.	1.5	0.31205	T	-1.48	0.36189	N	0.508	0.53972	-1.1004	0.04043	T	0.061	0.25419	T	9	0.0072719157	0.00166	T	0.016396	0.37638	T	0.127	0.34888	.	.	0.513394077459	0.50981	0.5898357426813906	0.58913	0.0612328423319	0.06815	0.405425190926	0.25823	T	0.190961	0.54566	T	-0.385664	0.02868	T	-0.321629	0.42396	T	0.0297975966168295	0.01957	T	0.739226	0.35772	T	0.34510022	0.56683	0.30315155	0.56346	0.3885339	0.59928	0.26803628	0.52667	-4.486	0.30705	T	.	.	0.140	0.39305	B	.;.;.	.;.;.	1.796948	0.22840	15.78	0.93964635307594979	0.24035	0.98566	0.84167	D	AEFI	0.484203	0.52432	N	-0.0536252328990798	0.39441	2.325889	-0.00818527401407515	0.39343	2.331329	0.0104997150042087	0.12034	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.8	4.64	0.57399	4.002000	0.56766	6.020000	0.52779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.8522:0.1478:0.0:0.0	12.834	0.57150	711	0.56613	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	705.33	52	chr5	90840983	.	A	G	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=675;ExcessHet=0;FS=1.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.101;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	18	0	1	0
chr5	94520596	94520596	C	G	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001385718:exon4:c.G325C:p.V109L,KIAA0825:NM_001145678:exon5:c.G622C:p.V208L,KIAA0825:NM_001385713:exon5:c.G622C:p.V208L,KIAA0825:NM_001385714:exon5:c.G622C:p.V208L,KIAA0825:NM_001385717:exon5:c.G622C:p.V208L,KIAA0825:NM_001385723:exon5:c.G622C:p.V208L,KIAA0825:NM_173665:exon5:c.G622C:p.V208L,KIAA0825:NM_001385712:exon6:c.G622C:p.V208L,KIAA0825:NM_001385716:exon6:c.G622C:p.V208L,KIAA0825:NM_001385722:exon6:c.G622C:p.V208L,KIAA0825:NM_001385724:exon6:c.G511C:p.V171L,KIAA0825:NM_001385728:exon6:c.G622C:p.V208L,KIAA0825:NM_001385729:exon6:c.G622C:p.V208L,KIAA0825:NM_001385719:exon7:c.G622C:p.V208L,KIAA0825:NM_001385720:exon7:c.G622C:p.V208L,KIAA0825:NM_001385721:exon7:c.G622C:p.V208L,KIAA0825:NM_001385730:exon7:c.G622C:p.V208L,KIAA0825:NM_001385715:exon8:c.G622C:p.V208L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.128737727943	0.0002	.	4.138e-05	0.0002	0	0	0	4.508e-05	0	0	3.23e-05	5	154602	rs373822700	2.532e-05	2.531e-05	2.86e-05	2.201e-05	0.0003	1.868e-05	1.631e-05	6.099e-05	2.524e-05	0.0001	8.951e-05	0	0	0	0.0003	2.159e-05	4.97e-05	0	5.264e-05	5.254e-05	7.718e-05	2.694e-05	0.0001	2.56e-05	1.832e-05	6.284e-05	4.3e-05	0.0001	0	6.557e-05	0	0	0	0.0032	0	0	0	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.710191	0.06253	N	1.128630	0.993891	0.42089	D	2.81	0.81869	M	0.17	0.85173	T	-1.11	0.51157	N	0.847	0.84298	0.205	0.85994	D	0.776	0.92380	D	10	0.7761419	0.77474	D	0.128738	0.81071	D	0.404	0.71714	.	.	0.761626786136	0.75946	0.20455856770004419	0.20372	0.33156140431	0.35231	0.543625593185	0.44958	T	0.139417	0.47342	T	0.202035	0.74083	D	0.289101	0.87614	D	0.271245932262315	0.23801	T	0.885811	0.61165	D	0.23040636	0.45795	0.24659243	0.50172	0.23040636	0.45795	0.24659243	0.50171	-5.278	0.39724	T	.	.	0.735	0.75517	P	.;.	.;.	2.961447	0.39439	21.0	0.99765426859017792	0.85417	0.92441	0.55719	D	AEFGBCI	0.737392	0.68260	D	0.685751277215	0.78699	6.924447	0.643667746928143	0.78139	6.816717	0.999999999999905	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	6.422000	0.73266	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	19.403	0.94629	891	0.26808	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1450.33	33	chr5	94520596	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=755;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.236;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	94537095	94537095	G	A	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001145678:exon3:c.C32T:p.S11F,KIAA0825:NM_001385713:exon3:c.C32T:p.S11F,KIAA0825:NM_001385714:exon3:c.C32T:p.S11F,KIAA0825:NM_001385717:exon3:c.C32T:p.S11F,KIAA0825:NM_001385718:exon3:c.C32T:p.S11F,KIAA0825:NM_001385723:exon3:c.C32T:p.S11F,KIAA0825:NM_173665:exon3:c.C32T:p.S11F,KIAA0825:NM_001385712:exon4:c.C32T:p.S11F,KIAA0825:NM_001385716:exon4:c.C32T:p.S11F,KIAA0825:NM_001385722:exon4:c.C32T:p.S11F,KIAA0825:NM_001385728:exon4:c.C32T:p.S11F,KIAA0825:NM_001385729:exon4:c.C32T:p.S11F,KIAA0825:NM_001385719:exon5:c.C32T:p.S11F,KIAA0825:NM_001385720:exon5:c.C32T:p.S11F,KIAA0825:NM_001385721:exon5:c.C32T:p.S11F,KIAA0825:NM_001385730:exon5:c.C32T:p.S11F,KIAA0825:NM_001385715:exon6:c.C32T:p.S11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0416032752764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264353147	2.743e-06	2.737e-06	0	5.514e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	4.979e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.92824	D	0.989	0.62824	D	0.884	0.62825	P	0.440642	0.04758	N	1.260800	0.95233	0.37780	D	2.585	0.75554	M	0.72	0.51228	T	-1.21	0.67589	N	0.769	0.76666	-0.7656	0.57099	T	0.307	0.67795	T	10	0.7273606	0.74064	D	0.041603	0.60019	D	0.214	0.50650	0.351	0.34922	0.490489133298	0.48683	0.04918926752776578	0.04861	0.298148885275	0.32199	0.451902508736	0.32204	T	0.040754	0.25632	T	0.183357	0.72352	D	0.0256034	0.71993	D	0.958711743354797	0.65343	D	0.838216	0.51127	T	0.2602933	0.49085	0.30740085	0.56762	0.2602933	0.49084	0.30740085	0.56761	-4.093	0.28205	T	.	.	0.184	0.45433	B	.;.	.;.	4.201595	0.63402	24.6	0.99822269968045096	0.90502	0.94794	0.62352	D	AEFI	0.658844	0.62997	D	0.654887054497923	0.76686	6.532534	0.658552636542365	0.79250	7.042695	0.996419580284824	0.34729	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	5.49	0.81022	4.593000	0.60743	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.913	0.88858	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1111.33	34	chr5	94537095	.	G	A	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=2.6;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr5	94691617	94691617	C	A	exonic	SLF1	.	nonsynonymous SNV	SLF1:NM_032290:exon19:c.C2473A:p.L825I	.	.	.	.	.	.	.	.	.	.	.	4078457	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00983622348236	.	.	5.816e-05	9.726e-05	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs775722366	2.604e-05	2.736e-05	2.045e-05	3.168e-05	0.0003	1.936e-05	1.695e-05	0.0002	0.0002	3.004e-05	0	0	0	0	0	5.399e-06	3.317e-05	0.0003	3.947e-05	3.94e-05	1.287e-05	6.727e-05	0.0008	1.717e-05	1.13e-05	0.0003	0.0002	2.414e-05	0	0	0	0	0	0	1.471e-05	0	0.0008	0.345	0.12511	T	0.388	0.15602	T	0.002	0.09854	B	0.004	0.10090	B	0.554582	0.11400	N	0.791327	0.996765	0.22909	N	.	.	.	-0.32	0.68181	T	-0.44	0.14588	N	0.308	0.34767	-1.0383	0.17832	T	0.121	0.42187	T	10	0.04227063	0.02961	T	0.009836	0.25653	T	0.083	0.24192	0.587	0.71497	0.451310735921	0.44754	0.1484463257268841	0.14766	0.0746676585319	0.08380	0.351512789726	0.18144	T	0.086386	0.37712	T	-0.37184	0.03502	T	-0.447956	0.27924	T	0.017876712987455	0.00514	T	0.541546	0.18382	T	0.050485283	0.09128	0.031748105	0.01808	0.050485283	0.09127	0.031748105	0.01808	-4.564	0.31716	T	.	.	0.073	0.04681	B	.	.	0.872004	0.12449	8.982	0.8943084052534872	0.18791	0.80070	0.39808	D	AEFBI	0.121773	0.23660	N	-0.800741984136653	0.13291	0.6537279	-0.671635888918044	0.17671	0.9406823	0.999674051801831	0.41644	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.23	-1.44	0.08391	0.064000	0.14310	.	.	-0.189000	0.09497	0.926000	0.32145	0.125000	0.22942	0.997000	0.79791	0.359:0.4008:0.1108:0.1294	3.108	0.05968	841	0.37094	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1180.33	33	chr5	94691617	.	C	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=714;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.886;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr5	95284184	95284184	G	C	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_024717:exon1:c.C392G:p.P131R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.953201831891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.06648	T	0.794	0.04142	T	0.745	0.43117	P	0.303	0.41149	B	.	.	.	.	0.985743	0.24682	N	0	0.06538	N	-2.31	0.87750	D	0.21	0.04776	N	0.417	0.45709	-0.5708	0.65982	T	0.341	0.70648	T	9	0.40879706	0.56080	T	0.953202	0.99683	D	0.494	0.77973	0.287	0.24601	0.34854441366	0.34469	0.2781292451795802	0.27725	0.44134038575	0.44124	0.884256601334	0.94526	D	0.010838	0.09742	T	0.0380829	0.56794	T	-0.183073	0.56237	T	0.194521219067011	0.20107	T	0.516048	0.16641	T	0.06946807	0.15220	0.10152038	0.24305	0.06946807	0.15220	0.10152038	0.24305	-2.43	0.05320	T	.	.	0.192	0.41109	B	.	.	4.059084	0.60224	24.2	0.80150361996521979	0.13068	0.46077	0.27680	N	ALL	0.141524	0.26371	N	-0.506198782960107	0.21879	1.164355	-0.451932303822552	0.23495	1.281522	0.999999999136792	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	4.27	3.4	0.38031	1.140000	0.31128	11.433000	0.92746	0.654000	0.53741	0.847000	0.30396	1.000000	0.68203	0.327000	0.25133	0.0918:0.0:0.9082:0.0	11.151	0.47680	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	451.33	27	chr5	95284184	.	G	C	451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.604;DP=712;ExcessHet=0;FS=5.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.889;SOR=0.45	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1013	18	0	1	0
chr5	95436867	95436867	-	C	exonic	FAM81B	.	frameshift insertion	FAM81B:NM_152548:exon7:c.854_855insC:p.Q285Hfs*21	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	.	0.0048	0.0014	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0012294	32	26028	rs373017124	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0009	0.0020	0.0168	0	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0011	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.002717	0.005848	0.050000	0.000000	0.015244	0.011364	0.02632	1915.29	33	chr5	95436867	.	A	AC	1915.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.318;DP=741;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.153;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1337:.	18	0	1	0
chr5	95436872	95436872	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon7:c.G859A:p.D287N	.	439	1068	14	1	0	16	0.00743494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00538752560431	.	.	0.0048	0.0016	0.0016	0	0.0005	0.0063	0.0045	0.0073	0.0044631	690	154602	rs201688877	0.0059	0.0060	0.0060	0.0058	0.0075	0.0058	0.0058	0.0062	0.0062	0.0010	0.0020	0.0168	5.04e-05	0.0010	0.0075	0.0063	0.0064	0.0066	0.0044	0.0044	0.0043	0.0045	0.0065	0.0041	0.0040	0.0060	0.0058	0.0012	0	0.0031	0.0248	0	0.0006	0	0.0065	0.0038	0.0060	0.083	0.33091	T	0.107	0.37730	T	.	.	.	.	.	.	0.000069	0.52346	D	0.122706	0.986949	0.24567	N	.	.	.	1.95	0.22474	T	-1.92	0.44657	N	0.219	0.24510	-1.0032	0.28992	T	0.097	0.36315	T	10	0.0063349307	0.00143	T	0.005388	0.13832	T	0.137	0.36984	.	.	0.278143212241	0.27437	0.21449996010531316	0.21365	0.109081632923	0.12296	0.457668781281	0.32991	T	.	.	.	-0.614857	0.00118	T	-0.651831	0.08826	T	0.0325736749937369	0.02400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27463	B	.	.	2.568296	0.33279	19.29	0.9989743163314726	0.96971	0.83926	0.43016	D	AEFDI	0.299339	0.40842	N	0.596596665877726	0.72961	5.888983	0.59403733528744	0.74510	6.149495	0.508603302744433	0.21001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.685000	0.37277	5.830000	0.50156	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0822:0.0:0.9178:0.0	12.256	0.53939	629	0.65079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.005848	0.050000	0.000000	0.015244	0.011364	0.02632	1865.33	33	chr5	95436872	.	G	A	1865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=737;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.151;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1337:.	18	0	1	0
chr5	95620930	95620930	G	A	exonic	GPR150	.	nonsynonymous SNV	GPR150:NM_199243:exon1:c.G655A:p.G219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.945497234444	0.0008	0.000998403	0.0005	0.0082	0	0	0	0	0.0037	0	0.0002846	44	154602	rs201254414	0.0002	0.0002	0.0002	0.0001	0.0068	0.0001	0.0001	0.0060	0.0057	0.0068	0.0003	0	3.271e-05	0	0	2.806e-06	0.0002	0	0.0018	0.0018	0.0017	0.0019	0.0064	0.0017	0.0016	0.0058	0.0056	0.0064	0	0.0003	0	0	0	0	4.424e-05	0.0010	0	0.365	0.11732	T	0.125	0.35330	T	0.969	0.56768	D	0.787	0.57594	P	0.898049	0.08640	N	0.937130	1	0.08975	N	2.125	0.59049	M	-0.61	0.71779	T	-1.32	0.32991	N	0.086	0.06322	-0.6803	0.61359	T	0.330	0.69741	T	10	0.015836746	0.00333	T	0.945497	0.99620	D	0.217	0.51112	0.599	0.72984	0.648399854274	0.64548	0.26509246850282114	0.26422	.	.	0.79666274786	0.81455	T	0.008771	0.08027	T	-0.432542	0.01431	T	-0.391342	0.34395	T	0.0637231175858885	0.07741	T	0.555444	0.19245	T	0.294558	0.52413	0.23730558	0.49024	0.294558	0.52413	0.23730558	0.49023	-3.462	0.15904	T	.	.	0.291	0.52293	B	.	.	2.027267	0.25767	16.88	0.96922571562699245	0.31625	0.00687	0.02939	N	AEFDGBCIJ	0.030411	0.03058	N	-0.61302432490539	0.18552	0.9640867	-0.848938233342121	0.13313	0.6899479	0.999999999965442	0.74766	0.437478	0.07067	0	0.405561	0.06353	1	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.88	-1.56	0.08080	-0.822000	0.04555	0.707000	0.20898	-0.228000	0.07776	0.000000	0.06391	0.905000	0.28034	0.038000	0.14061	0.6883:0.0:0.3117:0.0	8.338	0.31389	608	0.67185	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001576	0.005747	0.001359	0.003472	0.000000	0.000000	0.000000	0.000000	0.02632	774.33	37	chr5	95620930	.	G	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=727;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-0.501;SOR=0.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1341:.	18	0	1	0
chr5	95621031	95621031	C	A	exonic	GPR150	.	stopgain	GPR150:NM_199243:exon1:c.C756A:p.C252X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002892	0.35770	N	0.124032	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456954	0.92789	D	0.418607	0.92700	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.801419	0.96875	36	0.99359126191256975	0.60946	0.04561	0.10203	N	AEFDGBCIJ	0.084769	0.17181	N	0.615029806178501	0.74125	6.079754	0.374488579750209	0.59995	4.182537	0.999999999933644	0.74766	0.437478	0.07067	0	0.405561	0.06353	1	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.0	4.0	0.45673	2.734000	0.47041	0.968000	0.23038	0.508000	0.23123	0.115000	0.23085	0.999000	0.35428	0.936000	0.47498	0.0:0.8951:0.0:0.1049	9.503	0.38194	608	0.67185	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1200.33	37	chr5	95621031	.	C	A	1200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.698;DP=758;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.228;SOR=0.606	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1341	18	0	1	0
chr5	95736964	95736964	G	A	exonic	RHOBTB3	.	nonsynonymous SNV	RHOBTB3:NM_014899:exon3:c.G304A:p.V102I	.	441	1070	10	1	0	12	0.00557621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0296762635136	0.0024	0.00179712	0.0032	0.0009	0.0009	0.0001	0.0011	0.0047	0.0033	0.0026	0.0032082	496	154602	rs139206452	0.0037	0.0037	0.0038	0.0037	0.0056	0.0036	0.0036	0.0041	0.0041	0.0007	0.0009	0.0017	0.0002	0.0014	0.0056	0.0042	0.0030	0.0039	0.0028	0.0028	0.0028	0.0028	0.0052	0.0026	0.0025	0.0048	0.0046	0.0007	0	0.0006	0.0009	0	0.0013	0.0034	0.0052	0.0024	0.0027	0.017	0.51248	D	0.0	0.92824	D	0.086	0.24919	B	0.051	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-0.91	0.75001	T	-0.27	0.11366	N	0.681	0.68777	-0.6947	0.60689	T	0.231	0.59682	T	10	0.008789331	0.00199	T	0.029676	0.52141	D	0.315	0.63694	.	.	0.682231382889	0.67952	0.3830172242866074	0.38216	1.10607612278	0.77899	0.671263933182	0.63019	T	0.209153	0.56928	T	-0.272354	0.11496	T	-0.163316	0.58051	T	0.0198687812789206	0.00689	T	0.880812	0.59928	D	0.092037424	0.21582	0.11285335	0.27232	0.092037424	0.21581	0.11285335	0.27231	-3.776	0.20446	T	.	.	0.14	0.30686	B	.;.	.;.	4.061827	0.60284	24.2	0.99730910239121795	0.82761	0.96788	0.70942	D	AEFBCI	0.881303	0.80855	D	0.0908954905928116	0.46040	2.850536	0.304399966590835	0.55797	3.742608	0.999999999989945	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	6.01	6.01	0.97420	7.755000	0.84048	11.924000	0.99849	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.121	0.97960	537	0.73184	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.007576	0.02632	1218.33	34	chr5	95736964	.	G	A	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.486;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.358;SOR=0.646	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr5	96412378	96412381	CCCA	-	exonic	PCSK1	.	frameshift deletion	PCSK1:NM_000439:exon7:c.819_822del:p.D273Efs*10,PCSK1:NM_001177875:exon7:c.678_681del:p.D226Efs*10	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.29	140	chr5	96412377	.	TCCCA	T	36.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.687;DP=936;ExcessHet=0;FS=66.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.421;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	18	0	1	0
chr5	96412380	96412380	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G820A:p.G274R,PCSK1:NM_001177875:exon7:c.G679A:p.G227R	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40395133694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.949	0.99100	0.823	0.94700	D	0.790	0.92896	D	10	0.98368526	0.98520	D	0.403951	0.93457	D	0.929	0.98304	0.914	0.98346	0.94146576268	0.94086	0.9268507850302136	0.92663	1.02087520744	0.75113	0.918705880642	0.98223	D	0.835304	0.96107	D	0.442034	0.92117	D	0.397175	0.92020	D	0.999790370464325	0.99036	D	0.992876	0.97681	D	0.9671122	0.97986	0.944418	0.98053	0.9671122	0.97986	0.944418	0.98053	-14.313	0.94520	D	.	.	0.999	0.98504	P	.;.	.;.	5.439492	0.90915	32	0.99946147601129243	0.99901	0.97918	0.78116	D	AEFDBI	0.956575	0.97521	D	1.02105448582345	0.96356	14.596	0.943111103787272	0.97191	15.730	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	131.28	137	chr5	96412380	.	C	T	131.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.749;DP=1302;ExcessHet=0.119;FS=203.146;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.851;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:7:.:.:0,7,2499:.	16	0	1	2
chr5	96412380	96412380	C	0	exonic	PCSK1	.	.	.	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	131.28	137	chr5	96412380	.	C	*	131.28	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.749;DP=1302;ExcessHet=0.119;FS=203.146;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.851;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:7:.:.:0,7,2499:.	16	0	1	2
chr5	96412381	96412381	-	TTTG	exonic	PCSK1	.	frameshift insertion	PCSK1:NM_000439:exon7:c.818_819insCAAA:p.G274Kfs*17,PCSK1:NM_001177875:exon7:c.677_678insCAAA:p.G227Kfs*17	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	231.0	140	chr5	96412381	.	A	ATTTG	231.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.968;DP=1161;ExcessHet=0.119;FS=164.502;InbreedingCoeff=-0.081;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.35;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	17	0	1	1
chr5	96412383	96412383	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G817A:p.D273N,PCSK1:NM_001177875:exon7:c.G676A:p.D226N	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.113724135385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.044	0.53072	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-1.5	0.81318	D	-4.57	0.78721	D	0.847	0.89242	0.289	0.87380	D	0.637	0.87313	D	10	0.8905066	0.88391	D	0.113724	0.79233	D	0.617	0.85091	0.663	0.80098	0.870228692775	0.86897	0.8171215849865758	0.81668	0.918288061537	0.71338	0.902075827122	0.96667	D	0.802474	0.94978	D	0.0055843	0.52422	T	-0.229755	0.51796	T	0.989461362361908	0.79699	D	0.964704	0.86917	D	0.6820582	0.77080	0.52570033	0.72597	0.6820582	0.77081	0.52570033	0.72598	-7.888	0.60305	D	.	.	0.753	0.75179	P	.;.	.;.	5.187297	0.86995	29.1	0.99933246476351179	0.99488	0.97918	0.78116	D	AEFDBI	0.950003	0.96321	D	0.795554434066665	0.85827	8.693839	0.794888678044383	0.89436	9.974031	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.33	140	chr5	96412383	.	C	T	36.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.395;DP=879;ExcessHet=0;FS=66.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.835;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	96432106	96432106	T	C	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_001177875:exon1:c.A16G:p.I6V	Obesity with impaired prohormone processing, Isolated cases	1	1518	3	0	0	3	0.000987167	.	.	.	421562	not_provided|PCSK1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00716894113997	.	0.000599042	0.0002	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs144071994	7.158e-05	6.772e-05	6.138e-05	8.205e-05	0.0017	5.993e-05	5.56e-05	0.0014	0.0012	0	0	0	0.0017	0	0.0002	4.637e-06	0.0001	0.0003	9.853e-05	9.844e-05	0.0001	6.718e-05	0.0023	6.005e-05	4.878e-05	0.0013	0.0010	0	0	6.539e-05	0	0.0023	0	0	2.941e-05	0	0	0.064	0.36509	T	0.183	0.29153	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.12	0.64630	T	0.07	0.06138	N	0.01	0.00095	-0.9936	0.31670	T	0.067	0.27674	T	7	0.0066926777	0.00152	T	0.007169	0.19006	T	0.037	0.09474	.	.	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.644273	0.00078	T	-0.704706	0.05572	T	0.0302599235295703	0.02030	T	0.206779	0.02461	T	.	.	.	.	.	.	.	.	-3.616	0.18088	T	.	.	0.069	0.03266	B	.	.	-1.062475	0.00687	0.020	0.52359590183374816	0.04733	0.00537	0.02479	N	AEFDBCI	0.057023	0.10588	N	-1.68970529627125	0.00879	0.03803266	-1.88701959335211	0.00519	0.02302155	0.999999999988621	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.54	-9.08	0.00616	-2.154000	0.01372	-4.591000	0.02079	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1683:0.2753:0.4233:0.133	3.339	0.06695	742	0.52873	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	38	chr5	96432106	.	T	C	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.21;DP=897;ExcessHet=0;FS=1.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.596;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	18	0	1	0
chr5	96767916	96767916	G	A	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon24:c.G1774A:p.D592N,CAST:NM_001284213:exon24:c.G1720A:p.D574N,CAST:NM_001330630:exon24:c.G1771A:p.D591N,CAST:NM_001042444:exon25:c.G1813A:p.D605N,CAST:NM_001042445:exon25:c.G1831A:p.D611N,CAST:NM_001284212:exon25:c.G1810A:p.D604N,CAST:NM_001330634:exon25:c.G1840A:p.D614N,CAST:NM_001330631:exon26:c.G1897A:p.D633N,CAST:NM_001330632:exon26:c.G1867A:p.D623N,CAST:NM_001330633:exon26:c.G1879A:p.D627N,CAST:NM_173060:exon26:c.G1870A:p.D624N,CAST:NM_001042440:exon27:c.G2062A:p.D688N,CAST:NM_001042443:exon27:c.G1936A:p.D646N,CAST:NM_001330626:exon27:c.G2089A:p.D697N,CAST:NM_001330627:exon27:c.G2059A:p.D687N,CAST:NM_001330628:exon27:c.G2017A:p.D673N,CAST:NM_001042441:exon28:c.G2128A:p.D710N,CAST:NM_001042442:exon28:c.G2119A:p.D707N,CAST:NM_001190442:exon28:c.G1897A:p.D633N,CAST:NM_001330629:exon28:c.G2101A:p.D701N,CAST:NM_001375317:exon28:c.G2074A:p.D692N,CAST:NM_001750:exon29:c.G2185A:p.D729N	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2384236	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.010810447625	.	.	6.632e-05	0	0	0	0.0003	9.044e-05	0	0	8.41e-05	13	154602	rs748910229	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	6.717e-05	0	0	0.0001	0	0.0002	4.973e-05	0	4.602e-05	4.597e-05	3.856e-05	5.383e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.415e-05	0	0	0	0	9.436e-05	0	7.35e-05	0	0	0.148	0.26629	T	0.081	0.46862	T	0.734	0.42776	P	0.167	0.43650	B	0.130874	0.18643	N	0.585258	1	0.08975	N	2.045	0.56016	M	1.98	0.23486	T	-1.98	0.47514	N	0.077	0.08506	-1.0134	0.25848	T	0.107	0.39003	T	10	0.082941025	0.13743	T	0.01081	0.27768	T	0.021	0.04004	.	.	0.318828661733	0.31499	0.028531283645219264	0.02803	0.0715876967428	0.08021	0.234150081873	0.02289	T	0.396248	0.75493	T	-0.447748	0.01164	T	-0.676385	0.07205	T	0.0651796236634254	0.07958	T	0.964804	0.88767	D	0.031065045	0.02878	0.031054689	0.01643	0.031065045	0.02878	0.031054689	0.01643	-5.85	0.45008	T	.	.	0.075	0.09578	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.766150	0.36298	20.2	0.99499716375410618	0.67973	0.11589	0.16733	N	AEFBI	0.383202	0.46479	N	-0.412681900022234	0.25024	1.355406	-0.537911323932371	0.21127	1.141465	0.996190814402019	0.34585	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.85	3.02	0.33970	1.513000	0.35430	5.273000	0.48158	0.676000	0.76740	0.042000	0.21073	0.976000	0.30059	0.016000	0.10718	0.1752:0.1677:0.6572:0.0	5.895	0.18177	886	0.28090	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	33	chr5	96767916	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.533;DP=782;ExcessHet=0;FS=2.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.354;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr5	96886733	96886733	G	A	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001130140:exon4:c.G793A:p.A265T,ERAP2:NM_001329233:exon4:c.G793A:p.A265T,ERAP2:NM_022350:exon4:c.G793A:p.A265T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0661784874941	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs781362542	2.88e-05	3.625e-05	1.424e-05	4.369e-05	0.0005	2.171e-05	1.911e-05	0.0004	0.0003	0	4.674e-05	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.84330	D	0.000000	0.98131	0.81001	D	3.34	0.90961	M	2.96	0.09542	T	-3.68	0.71882	D	0.766	0.76388	-0.6534	0.62565	T	0.142	0.46312	T	10	0.80554307	0.79898	D	0.066178	0.69800	D	0.343	0.66488	0.874	0.96529	0.42886291518	0.42503	0.7827415364392727	0.78225	0.31929760964	0.34132	0.485381662846	0.36799	T	0.124245	0.44915	T	-0.193119	0.21802	T	-0.146429	0.59559	T	0.927268326282501	0.59002	D	0.966703	0.98839	D	0.9414737	0.95397	0.87901133	0.93493	0.9414737	0.95398	0.87901133	0.93493	-12.351	0.86518	D	.	.	0.286	0.61679	B	.;.;.	.;.;.	4.435853	0.68827	25.3	0.99902629960886691	0.97426	0.97602	0.75831	D	AEFBI	0.523383	0.54700	D	0.947171694191729	0.93871	12.33628	0.853866850634885	0.93241	11.91377	0.999999999998068	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.1	5.1	0.68917	6.924000	0.75641	7.957000	0.75973	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.789	0.78103	884	0.28482	Peptidase M1, membrane alanine aminopeptidase, N-terminal;Peptidase M1, membrane alanine aminopeptidase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1759.33	34	chr5	96886733	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-2.593;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	18	0	1	0
chr5	96909661	96909661	C	T	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001329229:exon14:c.C2116T:p.R706C,ERAP2:NM_001130140:exon15:c.C2251T:p.R751C,ERAP2:NM_022350:exon15:c.C2251T:p.R751C	.	423	1068	30	1	0	32	0.0147601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0022	0.00259585	0.0052	0.0003	0.0021	0.0002	0.0006	0.0049	0.0044	0.0164	0.0045795	708	154602	rs150892504	0.0033	0.0033	0.0028	0.0038	0.0158	0.0033	0.0032	0.0151	0.0148	0.0004	0.0018	0.0385	0.0001	0.0004	0.0078	0.0018	0.0055	0.0158	0.0031	0.0031	0.0030	0.0032	0.0149	0.0029	0.0028	0.0122	0.0111	0.0002	0	0.0025	0.0444	0.0002	0.0008	0.0034	0.0027	0.0028	0.0149	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.022061	0.26710	N	0.280964	0.92599	0.27179	N	2.87	0.83286	M	2.81	0.10975	T	-6.92	0.93366	D	0.638	0.68516	-1.1005	0.04032	T	0.062	0.25672	T	10	0.0074153244	0.00169	T	.	.	.	0.113	0.31778	.	.	0.423836183345	0.42003	0.7413116271350302	0.74077	0.350673031715	0.36916	0.247451037169	0.03503	T	0.253365	0.62388	T	-0.413049	0.01897	T	-0.352467	0.38923	T	0.0670174336671241	0.08225	T	0.946205	0.79675	D	0.8009617	0.83967	0.6122098	0.77437	0.8009617	0.83968	0.6122098	0.77438	-11.784	0.83782	D	.	.	0.228	0.56940	B	.;.	.;.	3.875609	0.56290	23.7	0.99841468348688689	0.92229	0.31897	0.24452	N	AEFDBI	0.118727	0.23203	N	0.0302868426186225	0.43236	2.620531	-0.199176689593356	0.31568	1.787695	0.940989990517817	0.27456	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.05	0.00326	0.13376	2.004000	0.40474	0.064000	0.14171	0.530000	0.24713	0.877000	0.30928	0.000000	0.08366	0.724000	0.34901	0.0:0.5387:0.2896:0.1717	6.130	0.19420	910	0.22284	ERAP1-like C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.015152	0.02632	1577.33	58	chr5	96909661	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1281;ExcessHet=0;FS=4.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.669;SOR=0.478	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr5	97124606	97124606	C	T	exonic	LIX1	.	nonsynonymous SNV	LIX1:NM_153234:exon2:c.G106A:p.E36K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0197314838056	.	.	0.0001	0	0	0	0	0	0.0011	0.0009	0.0001035	16	154602	rs756919264	7.543e-05	7.661e-05	4.913e-05	0.0001	0.0011	6.397e-05	5.953e-05	0.0009	0.0009	0	0	0	0	0	0.0002	2.702e-06	0.0001	0.0011	5.253e-05	5.25e-05	2.57e-05	8.056e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.047	0.40319	D	0.073	0.43159	T	0.965	0.56013	D	0.702	0.54226	P	0.000019	0.62929	D	0.151908	0.999991	0.58761	D	1.655	0.42436	L	0.7	0.51474	T	-2.66	0.61722	D	0.708	0.71143	-0.6990	0.60486	T	0.212	0.57294	T	10	0.107117265	0.19881	T	0.019731	0.42166	T	0.220	0.51569	0.427	0.47350	0.533421582741	0.52991	0.5146344507820887	0.51386	0.664270743672	0.59066	0.712870717049	0.69010	T	0.271261	0.64358	T	-0.221472	0.17794	T	-0.141347	0.60000	T	0.375687062740326	0.28017	T	0.944706	0.82105	D	0.41216257	0.61566	0.31574628	0.57559	0.41216257	0.61566	0.31574628	0.57558	-9.899	0.73304	D	.	.	0.265	0.49903	B	.;.	.;.	4.999681	0.82944	27.9	0.99915885164371021	0.98379	0.69922	0.34381	D	AEFDBHCIJ	0.398915	0.47441	N	0.478229433709626	0.65821	4.870908	0.482662865583881	0.66843	5.004931	0.999976707760941	0.50053	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.530356	0.10902	0	.	.	5.0	5.0	0.66209	2.987000	0.49066	2.692000	0.34095	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.664000	0.33081	0.0:1.0:0.0:0.0	18.240	0.89900	948	0.11499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	33	chr5	97124606	.	C	T	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=686;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=0.59;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	18	0	1	0
chr5	98881277	98881277	A	C	splicing	CHD1	NM_001376194:exon21:c.2964+2T>G;NM_001270:exon21:c.2964+2T>G;NM_001364113:exon21:c.2964+2T>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771067213	1.372e-06	2.067e-05	0	2.761e-06	3.269e-05	0	0	.	.	0	0	0	0	0	0	0	0	3.269e-05	2.547e-05	9.518e-05	0	5.171e-05	5.328e-05	0	0	.	.	0	0	0	0	0	0	0	5.328e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161339	0.70325	D	-0.00602411	0.69943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.316065	0.89230	29.9	0.97980786696476108	0.37327	0.98909	0.88484	D	AEFBI	.	.	.	0.946481265018365	0.93844	12.31655	0.742202107142468	0.85572	8.621144	0.999998975339752	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.125526	0.03468	0	0.117559	0.03655	0	0.816777	0.48665	5.23	4.05	0.46415	9.325000	0.96006	11.234000	0.90205	-0.093000	0.16093	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.8678:0.0:0.0:0.1322	11.746	0.51087	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	51.19	12	chr5	98881277	.	A	C	51.19	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.892;DP=647;ExcessHet=0.119;FS=9.148;InbreedingCoeff=-0.2433;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.45;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:27,0:27:0:.:.:0,0,499:.	6	0	2	11
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	340.2	63	chr5	102270770	.	G	C	340.2	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,5:34:63:.:.:63,0,943:.	12	0	5	2
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	340.2	63	chr5	102270770	.	G	A	340.2	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.79;DP=1035;ExcessHet=2.0135;FS=96.392;InbreedingCoeff=-0.2208;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.944;SOR=7.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,6:34:63:.:.:63,64,433:.	16	0	1	2
chr5	103028961	103028961	C	T	exonic	PAM	.	nonsynonymous SNV	PAM:NM_138822:exon23:c.C2560T:p.R854W,PAM:NM_001364589:exon24:c.C2443T:p.R815W,PAM:NM_001364593:exon24:c.C2296T:p.R766W,PAM:NM_001364594:exon24:c.C2293T:p.R765W,PAM:NM_138766:exon24:c.C2614T:p.R872W,PAM:NM_138821:exon24:c.C2497T:p.R833W,PAM:NM_000919:exon25:c.C2821T:p.R941W,PAM:NM_001177306:exon25:c.C2818T:p.R940W,PAM:NM_001364582:exon25:c.C2764T:p.R922W,PAM:NM_001364585:exon25:c.C2617T:p.R873W,PAM:NM_001364586:exon25:c.C2500T:p.R834W,PAM:NM_001364587:exon25:c.C2497T:p.R833W,PAM:NM_001364588:exon25:c.C2494T:p.R832W,PAM:NM_001364591:exon25:c.C2350T:p.R784W,PAM:NM_001364592:exon25:c.C2347T:p.R783W,PAM:NM_001364583:exon26:c.C2818T:p.R940W,PAM:NM_001364584:exon26:c.C2815T:p.R939W,PAM:NM_001364590:exon26:c.C2389T:p.R797W,PAM:NM_001319943:exon27:c.C2872T:p.R958W	.	.	.	.	.	.	.	.	.	.	.	2217085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0555539965681	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs777006635	2.669e-05	2.668e-05	3.541e-05	1.788e-05	0.0017	1.998e-05	1.755e-05	0.0009	0.0007	2.991e-05	0	0	0	0	0.0017	2.069e-05	8.282e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.19e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.84481	D	0.000006	0.62929	D	0.111743	0.999999	0.81001	D	1.845	0.48678	L	0.64	0.58176	T	-3.84	0.74980	D	0.421	0.62696	-0.3166	0.74517	T	0.371	0.73046	T	10	0.46924162	0.59760	T	0.055554	0.66278	D	0.253	0.56294	0.378	0.39319	0.787187582236	0.78522	0.39551025166758275	0.39466	0.666378914637	0.59194	0.702795922756	0.67548	T	0.690991	0.91015	D	0.0302308	0.55754	T	-0.178866	0.56629	T	0.944860756397247	0.62147	D	0.989401	0.97264	D	0.28690457	0.51704	0.32635757	0.58543	0.28690457	0.51703	0.32635757	0.58542	-12.814	0.88837	D	.	.	0.429	0.61156	A	.;.;.;.;.	.;.;.;.;.	6.066576	0.94479	34	0.99925471703183477	0.99042	0.95834	0.66353	D	AEFBI	0.884855	0.81488	D	0.678472175096903	0.78221	6.828235	0.715809974484011	0.83578	8.058909	0.999999996795581	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.367000	0.59270	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.14:0.86:0.0:0.0	15.293	0.73582	946	0.12043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1136.33	43	chr5	103028961	.	C	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=805;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.022;SOR=0.882	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1423	18	0	1	0
chr5	103201606	103201606	A	G	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345875:exon28:c.A3347G:p.H1116R,PPIP5K2:NM_001345877:exon28:c.A3344G:p.H1115R,PPIP5K2:NM_001345874:exon29:c.A3467G:p.H1156R,PPIP5K2:NM_001345876:exon29:c.A3521G:p.H1174R,PPIP5K2:NM_001345878:exon29:c.A3518G:p.H1173R,PPIP5K2:NM_001345871:exon30:c.A3530G:p.H1177R,PPIP5K2:NM_015216:exon30:c.A3641G:p.H1214R,PPIP5K2:NM_001276277:exon31:c.A3704G:p.H1235R,PPIP5K2:NM_001345872:exon31:c.A3575G:p.H1192R,PPIP5K2:NM_001345873:exon31:c.A3701G:p.H1234R,PPIP5K2:NM_001281471:exon33:c.A3809G:p.H1270R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00708051341061	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400950075	6.882e-07	2.052e-06	1.37e-06	0	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.12592	T	0.555	0.17585	T	0.002	0.09854	B	0.004	0.10090	B	0.292129	0.14749	N	0.630018	0.999722	0.20581	N	.	.	.	2.56	0.23283	T	-0.24	0.29727	N	0.213	0.31702	-1.0102	0.26854	T	0.035	0.15074	T	10	0.050245166	0.04729	T	0.007081	0.18759	T	0.027	0.05988	0.215	0.13498	0.146414634003	0.14194	0.14345033213394048	0.14268	0.198612472102	0.22241	0.538228809834	0.44195	T	0.009353	0.08516	T	-0.183677	0.23190	T	-0.501616	0.22181	T	0.386977523565292	0.28450	T	0.933907	0.75239	D	0.027640374	0.01986	0.028979288	0.01186	0.027640374	0.01985	0.028979288	0.01186	-2.066	0.03441	T	.	.	0.075	0.12037	B	.;.;.;.;.;.	.;.;.;.;.;.	2.464151	0.31747	18.84	0.9577008839645339	0.27775	0.39683	0.26267	N	AEFBI	0.150584	0.27490	N	-0.446749026933138	0.23851	1.283715	-0.281714633796438	0.28701	1.602259	2.22989104890556E-4	0.06048	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.52	2.88	0.32617	2.751000	0.47185	5.713000	0.49433	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.992000	0.67800	0.6595:0.2067:0.0:0.1339	6.884	0.23368	944	0.12746	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	504.33	24	chr5	103201606	.	A	G	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=617;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.36;SOR=0.657	GT:AD:DP:GQ:PL	0/0:22,0:22:63:0,63,678	18	0	1	0
chr5	109378222	109378222	T	C	exonic	PJA2	.	nonsynonymous SNV	PJA2:NM_014819:exon4:c.A1265G:p.Y422C	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00622143719245	0.0006	0.000399361	0.0009	0.0006	0.0003	0.0053	0	0.0007	0	0.0004	0.0008603	133	154602	rs148020133	0.0012	0.0012	0.0011	0.0012	0.0031	0.0011	0.0011	0.0026	0.0025	0.0003	0.0002	0	0.0031	3.754e-05	0.0009	0.0013	0.0008	0.0004	0.0007	0.0007	0.0007	0.0007	0.0048	0.0006	0.0006	0.0034	0.0029	0.0005	0	6.535e-05	0	0.0048	0	0	0.0008	0.0019	0.0002	0.14	0.25664	T	0.23	0.25135	T	0.001	0.07471	B	0.005	0.11217	B	0.016627	0.27927	N	0.304838	1	0.08975	N	1.04	0.26193	L	3.35	0.05989	T	-0.26	0.11185	N	0.236	0.27197	-0.9657	0.38073	T	0.009	0.03227	T	10	0.006773114	0.00154	T	0.006221	0.16317	T	0.179	0.44899	.	.	0.261217442401	0.25729	0.027090847211391687	0.02659	0.0408557262819	0.04386	0.543992757797	0.45009	T	0.042142	0.26088	T	-0.440423	0.01286	T	-0.400286	0.33352	T	0.0117555977532498	0.00181	T	0.732927	0.34859	T	0.05494483	0.10612	0.0514959	0.08300	0.05494483	0.10611	0.0514959	0.08300	-4.419	0.29813	T	.	.	0.106	0.21390	B	.;.	.;.	2.528330	0.32681	19.12	0.99332621939394594	0.59856	0.69411	0.34177	D	AEFBI	0.087979	0.17836	N	-0.374724712232961	0.26373	1.438827	-0.214090230123979	0.31030	1.75232	0.778460600835065	0.23795	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	2.9	0.32809	0.950000	0.28720	3.121000	0.36400	0.660000	0.55035	0.985000	0.35982	0.999000	0.35428	1.000000	0.97212	0.2218:0.0:0.1692:0.609	6.599	0.21881	943	0.12886	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	855.33	63	chr5	109378222	.	T	C	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=689;ExcessHet=0;FS=4.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.67;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	18	0	1	0
chr5	109820302	109820302	A	G	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon15:c.A2411G:p.K804R	.	423	1094	5	0	0	5	0.00227998	.	.	.	2323482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0419462146628	.	.	0.0002	0	0	0	0	9.024e-05	0	0.0013	0.0001811	28	154602	rs760261940	0.0001	0.0001	6.401e-05	0.0002	0.0013	9.54e-05	9.02e-05	0.0011	0.0010	0	0	0	0	0	0.0012	3.059e-05	0.0001	0.0013	5.915e-05	5.91e-05	3.854e-05	8.072e-05	0.0006	3.078e-05	2.21e-05	0.0002	8.985e-05	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0006	0.222	0.18823	T	0.365	0.16717	T	0.041	0.21357	B	0.06	0.26717	B	0.000000	0.84330	D	0.049927	0.999889	0.50402	D	1.865	0.49290	L	-1.19	0.78427	T	-1.1	0.28497	N	0.345	0.38643	-0.6209	0.63951	T	0.330	0.69741	T	10	0.09906942	0.17953	T	0.041946	0.60201	D	0.329	0.65126	0.618	0.75232	0.658416286431	0.65555	0.4590594444054112	0.45823	0.180917461197	0.20346	0.389857530594	0.23649	T	0.259541	0.63082	T	-0.31037	0.07716	T	-0.269042	0.47917	T	0.0984139202057306	0.12182	T	0.891811	0.62701	D	0.10672652	0.25235	0.109332114	0.26349	0.10672652	0.25235	0.109332114	0.26348	-5.734	0.43995	T	.	.	0.091	0.12891	B	.	.	3.275914	0.44867	22.0	0.99499943902901267	0.67973	0.93854	0.59383	D	AEFBI	0.509516	0.53895	D	-0.0362204117137956	0.40221	2.384861	0.127761439970725	0.45974	2.851241	0.999958930252612	0.48110	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	4.81	0.61401	5.665000	0.67722	7.742000	0.68018	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.931:0.0:0.0689:0.0	11.995	0.52488	745	0.52414	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	472.33	34	chr5	109820302	.	A	G	472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=679;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.193;SOR=0.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1053	18	0	1	0
chr5	109845928	109845928	A	G	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon18:c.A2764G:p.M922V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0952280158047	.	.	0.0001	0	0.0010	0	0	5.997e-05	0.0011	6.058e-05	0.00011	17	154602	rs772319096	6.364e-05	6.43e-05	6.672e-05	6.052e-05	0.0005	5.296e-05	4.912e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.757e-05	4.968e-05	4.639e-05	1.314e-05	1.313e-05	2.569e-05	0	6.542e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.542e-05	0	0	0	0	0	0	0	0.017	0.51248	D	0.172	0.30241	T	0.888	0.48822	P	0.688	0.53700	P	0.000000	0.84330	D	0.087419	0.996278	0.43112	D	3.325	0.90780	M	-1.22	0.78752	T	-2.45	0.53577	N	0.615	0.63120	0.134	0.84769	D	0.584	0.85079	D	10	0.4641788	0.59468	T	0.095228	0.76392	D	0.500	0.78350	.	.	0.762928649547	0.76077	0.5653252155104924	0.56459	0.233320805752	0.25866	0.482184231281	0.36358	T	0.534187	0.83934	D	-0.125006	0.32307	T	-0.0767902	0.65138	T	0.491002231836319	0.32301	T	0.938806	0.76978	D	0.40752897	0.61251	0.42228964	0.66135	0.40752897	0.61251	0.42228964	0.66135	-10.231	0.75283	D	.	.	0.126	0.26700	B	.	.	4.150763	0.62260	24.4	0.99482976132090783	0.67014	0.97303	0.73904	D	AEFDGBI	0.678484	0.64283	D	0.57515320747178	0.71627	5.679609	0.540328387700418	0.70728	5.547912	0.999992408406337	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	6.381000	0.73094	9.309000	0.79942	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	1.0:0.0:0.0:0.0	15.916	0.79308	729	0.54495	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	35	chr5	109845928	.	A	G	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.765;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.439;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1306	18	0	1	0
chr5	110640969	110640969	A	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon4:c.T265A:p.S89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00292549856556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220763424	8.684e-06	8.209e-06	4.28e-06	1.322e-05	0.0002	4.63e-06	3.66e-06	6.201e-05	4.652e-05	0	0	0	0	0	0.0002	0	3.497e-05	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.584	0.06106	T	0.186	0.30631	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.72	0.24676	N	0.148	0.15046	-1.0179	0.24398	T	0.065	0.26878	T	7	0.029526472	0.01079	T	0.002925	0.06192	T	0.038	0.09825	0.186	0.09517	0.0138822411134	0.00435	0.02203804810128695	0.02155	.	.	0.252247542143	0.04008	T	0.005684	0.05129	T	-0.321074	0.06810	T	-0.50066	0.22280	T	0.0352388796809914	0.02849	T	0.429357	0.11628	T	0.073508196	0.16430	0.07548655	0.16623	0.073508196	0.16430	0.07548655	0.16623	-4.117	0.25540	T	.	.	0.078	0.07793	B	.;.;.;.	.;.;.;.	0.282579	0.06594	3.085	0.26746208929224174	0.01295	0.04027	0.09462	N	AEFI	0.057605	0.10746	N	-0.885740717179909	0.11181	0.5382066	-0.876815858888737	0.12644	0.6516169	1.15848290477671E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	0.014	0.13420	0.902000	0.28088	0.532000	0.19257	0.691000	0.84096	0.027000	0.20232	0.000000	0.08366	0.307000	0.24666	0.6771:0.2033:0.0:0.1196	8.972	0.35072	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	981.33	36	chr5	110640969	.	A	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0;SOR=0.703	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr5	110746300	110746300	C	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon4:c.C416A:p.T139N,SLC25A46:NM_001303250:exon4:c.C143A:p.T48N,SLC25A46:NM_138773:exon4:c.C416A:p.T139N	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	509	1001	10	2	0	14	0.00694444	.	.	.	453904	Inborn_genetic_diseases|not_provided|SLC25A46-related_disorder|Neuropathy,_hereditary_motor_and_sensory,_type_6B	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.0679875233712	0.0002	.	0.0010	9.737e-05	8.645e-05	0.0001	0	0.0006	0	0.0044	0.0008603	133	154602	rs202123515	0.0009	0.0009	0.0008	0.0011	0.0051	0.0009	0.0009	0.0042	0.0040	9.694e-05	0.0002	0	5.264e-05	3.758e-05	0.0051	0.0008	0.0013	0.0045	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0018	0.0014	7.22e-05	0	0.0003	0	0	0	0	0.0007	0.0005	0.0029	0.324	0.18000	T	0.335	0.22761	T	0.933	0.52105	P	0.307	0.41295	B	0.000002	0.62929	D	0.099352	0.999584	0.81001	D	2.425	0.70256	M	-1.18	0.78314	T	-1.42	0.36385	N	0.649	0.66016	-0.4248	0.71235	T	0.363	0.72445	T	10	0.026061535	0.00782	T	0.067988	0.70325	D	0.365	0.68495	.	.	0.717195132449	0.71470	0.6756709447670524	0.67505	0.18412230689	0.20704	0.753449440002	0.74956	T	0.041052	0.25731	T	-0.270872	0.11659	T	-0.162386	0.58135	T	0.0544598861202496	0.06267	T	0.876612	0.63821	D	0.20870507	0.43115	0.15778503	0.36877	0.17306611	0.38033	0.157684	0.36858	-5.994	0.53983	T	0.4101591673195406	0.50059	0.292	0.63143	B	.;.	.;.	3.832299	0.55402	23.6	0.98154900006729051	0.38722	0.98291	0.81318	D	AEFGBI	0.840990	0.75823	D	0.329452793941148	0.57664	3.934803	0.394569681238408	0.61228	4.320164	0.999988228630886	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.7	4.83	0.61880	7.138000	0.76898	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9276:0.0:0.0724	14.252	0.65573	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.007576	0.02632	1537.33	33	chr5	110746300	.	C	A	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.103;DP=805;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.98;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	18	0	1	0
chr5	111092599	111092599	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon1:c.A143G:p.K48R	Glaucoma 1, open angle, G	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00380432740645	.	.	2.628e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750936332	8.212e-06	8.209e-06	5.447e-06	1.101e-05	0.0001	4.38e-06	3.46e-06	5.398e-05	4.043e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.21947	T	0.008	0.14655	B	0.005	0.11217	B	0.004396	0.33795	N	0.320500	0.924404	0.36774	D	-0.33	0.03531	N	1.59	0.28836	T	-0.15	0.09297	N	0.148	0.25867	-1.0792	0.07504	T	0.040	0.17362	T	10	0.16992697	0.31628	T	0.003804	0.08868	T	0.072	0.21020	0.488	0.57257	0.321697908245	0.31786	0.2952328837540435	0.29436	0.0265662939867	0.02714	0.55449873209	0.46491	T	0.081709	0.36659	T	-0.387562	0.02789	T	-0.590882	0.13590	T	0.242239673491609	0.22522	T	0.810019	0.46084	T	0.26774132	0.49846	0.26629838	0.52473	0.26774132	0.49846	0.26629838	0.52472	-3.805	0.20879	T	0.12299648546655595	0.11859	0.070	0.03407	B	.;.;.	.;.;.	2.759766	0.36197	20.2	0.95961189524395074	0.28300	0.82929	0.42093	D	ALL	0.152326	0.27698	N	-0.295999304669272	0.29302	1.623779	-0.103169677990601	0.35262	2.037999	0.999999999999905	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	3.56	0.39892	2.758000	0.47245	5.844000	0.50275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7099:0.1427:0.1474:0.0	5.875	0.18070	843	0.36859	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	929.33	33	chr5	111092599	.	A	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.673;DP=731;ExcessHet=0;FS=2.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.917;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1306	18	0	1	0
chr5	111098750	111098750	C	T	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon4:c.C320T:p.A107V	Glaucoma 1, open angle, G	0	224	2	0	0	2	0.00444444	.	.	.	300293	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.200	0.0218489208818	0.0041	0.000599042	0.0041	0.0009	0.0017	0	0.0045	0.0065	0.0044	0.0002	0.0043014	665	154602	rs62376783	0.0064	0.0065	0.0064	0.0063	0.0077	0.0062	0.0062	0.0076	0.0075	0.0005	0.0023	0.0008	0	0.0046	0.0010	0.0077	0.0049	0.0006	0.0049	0.0049	0.0050	0.0048	0.0082	0.0046	0.0045	0.0076	0.0074	0.0013	0	0.0039	0.0014	0	0.0049	0	0.0082	0.0043	0.0012	.	.	.	0.303	0.20164	T	0.965	0.56013	D	0.722	0.54942	P	0.000186	0.48115	D	0.212003	0.99999	0.58761	D	2.47	0.71715	M	1.51	0.30937	T	-2.18	0.49187	N	0.565	0.58883	-0.7941	0.55491	T	0.147	0.47147	T	10	0.008305371	0.00188	T	0.021849	0.44673	T	0.200	0.48430	.	.	0.702407312311	0.69982	0.5166138579627413	0.51584	0.0315325930586	0.03265	0.480612486601	0.36141	T	0.297397	0.67000	T	-0.380323	0.03102	T	-0.309689	0.43693	T	0.0357670746625236	0.02939	T	0.860814	0.55431	D	0.3170807	0.54392	0.49780077	0.70961	0.53156793	0.68920	0.4647658	0.68936	-7.423	0.57066	T	0.3517979122660164	0.44895	0.158	0.39099	B	.;.;.	.;.;.	3.802786	0.54800	23.5	0.99896710388559984	0.96971	0.91434	0.53526	D	AEFBI	0.476523	0.51990	N	0.651867906520246	0.76489	6.496087	0.657180786403391	0.79148	7.021188	0.999999983101859	0.74766	0.75658	0.98901	0	0.743671	0.97443	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.72	5.72	0.89380	2.692000	0.46685	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.877	0.96878	877	0.30165	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1441.33	38	chr5	111098750	.	C	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.096;DP=738;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.875;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr5	111102346	111102346	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon6:c.A544G:p.K182E	Glaucoma 1, open angle, G	.	.	.	.	.	.	.	0.7916	0.816	.	296578	Glaucoma_1,_open_angle,_G|not_specified	MedGen:C1835933,OMIM:609887|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.364	0.0465103253744	.	.	7.597e-05	0	8.985e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs762142269	6.396e-05	6.499e-05	5.744e-05	7.055e-05	0.0011	5.323e-05	4.937e-05	0.0005	0.0003	0	0.0002	0	2.531e-05	5.632e-05	0.0011	6.045e-05	0.0001	2.376e-05	9.917e-05	9.863e-05	3.878e-05	0.0002	0.0007	6.043e-05	4.909e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	5.913e-05	0	0	.	.	.	0.01	0.65728	D	0.926	0.51467	P	0.629	0.51727	P	0.000000	0.84330	D	0.042383	1	0.81001	D	3.4	0.91674	M	1.52	0.30669	T	-3.09	0.63438	D	0.679	0.69737	-0.6240	0.63823	T	0.182	0.52950	T	10	0.6880449	0.71683	D	0.04651	0.62489	D	0.364	0.68407	0.698	0.83499	0.63052666147	0.62750	0.664593042658561	0.66396	0.067127495233	0.07497	0.718112111092	0.69771	T	0.41466	0.76815	T	-0.0673181	0.41755	T	-0.0651745	0.65969	T	0.887453496456146	0.53795	D	0.876112	0.58827	D	0.8737959	0.89164	0.75186795	0.85333	0.8737959	0.89166	0.75186795	0.85334	-7.301	0.56203	T	0.6316503609619909	0.70112	0.333	0.55403	B	.;.;.	.;.;.	5.138460	0.86020	28.8	0.99820914936814087	0.90414	0.98963	0.89243	D	AEFGBI	0.701421	0.65811	D	0.680670008768036	0.78365	6.857025	0.650408437823112	0.78640	6.917217	0.999975087160963	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.5	4.27	0.50009	6.652000	0.74228	9.184000	0.79095	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8578:0.1422:0.0:0.0	12.213	0.53699	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	414.33	33	chr5	111102346	.	A	G	414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.844;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.728;SOR=0.687	GT:AD:DP:GQ:PL	0/1:28,21:49:99:428,0,677	18	0	1	0
chr5	111106140	111106140	G	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon11:c.G1177A:p.A393T	Glaucoma 1, open angle, G	3	1469	49	1	0	51	0.0170626	.	.	.	16621	not_provided|Usher_syndrome_type_2C|Glaucoma_1,_open_angle,_G|WDR36-related_disorder	MedGen:C3661900|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C1835933,OMIM:609887|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.257	.	0.0035	0.0103834	0.0085	0.0009	0.0024	0	0.0008	0.0049	0.0077	0.0396	0.0077877	1204	154602	rs35703638	0.0063	0.0063	0.0052	0.0074	0.0396	0.0062	0.0061	0.0384	0.0380	0.0009	0.0021	0.0185	2.529e-05	0.0010	0.0190	0.0041	0.0072	0.0396	0.0046	0.0046	0.0040	0.0052	0.0421	0.0043	0.0042	0.0374	0.0355	0.0007	0	0.0040	0.0191	0.0004	0.0008	0.0068	0.0045	0.0071	0.0421	.	.	.	0.172	0.31427	T	0.717	0.42239	P	0.162	0.34839	B	0.000000	0.84330	D	0.053679	0.981453	0.42740	A	1.065	0.27018	L	-0.22	0.66474	T	-1.01	0.26639	N	0.225	0.25253	-0.5319	0.67469	T	0.134	0.44700	T	9	0.0058906674	0.00132	T	.	.	.	0.257	0.56827	.	.	0.918932208345	0.91811	0.3555309418206018	0.35467	0.0296278266116	0.03046	0.437898874283	0.30291	T	0.111246	0.42658	T	-0.192804	0.21846	T	-0.0204496	0.68999	D	0.00514807261636098	0.00056	T	0.850115	0.53348	D	0.521217	0.68329	0.3595118	0.61409	0.5670011	0.70896	0.32784036	0.58677	-5.778	0.44382	T	0.15303880024046368	0.18173	0.116	0.26978	B	.;.;.	.;.;.	3.060918	0.41109	21.3	0.99769962277605184	0.85834	0.92968	0.56993	D	AEFBI	0.222266	0.34678	N	0.266451796840912	0.54457	3.611202	0.373573685898376	0.59941	4.176374	0.998851764279735	0.37823	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	4.81	0.61401	2.251000	0.42840	7.308000	0.58115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.743:0.257	11.193	0.47921	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.005435	0.005848	0.000000	0.017241	0.009146	0.026515	0.02632	1127.33	126	chr5	111106140	.	G	A	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=743;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.064;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	18	0	1	0
chr5	111113152	111113152	T	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon16:c.T1795G:p.C599G	Glaucoma 1, open angle, G	1	1515	6	0	0	6	0.00197628	0.0157	0.196	.	300291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.0798847066219	0.0003	.	0.0004	0	0	0	0	0.0001	0.0011	0.0022	0.000304	47	154602	rs147964188	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	6.154e-05	4.526e-05	0.0004	2.61e-05	0	0.0011	0.0002	0.0003	0.0022	9.934e-05	9.85e-05	7.772e-05	0.0001	0.0019	6.053e-05	4.917e-05	0.0010	0.0007	0	0	0	0.0003	0	0	0	7.382e-05	0	0.0019	.	.	.	0.349	0.17696	T	0.555	0.38231	P	0.138	0.33406	B	0.000000	0.84330	D	0.122034	0.999913	0.51042	D	0.755	0.19153	N	-1.41	0.80560	T	-2.77	0.58733	D	0.759	0.75742	-0.3641	0.73141	T	0.318	0.68744	T	10	0.16127583	0.30255	T	0.079885	0.73335	D	0.477	0.76881	.	.	0.794967270964	0.79306	0.5308293938764561	0.53006	0.0472017422713	0.05146	0.430672287941	0.29300	T	0.363965	0.72963	T	-0.163006	0.26299	T	-0.0141873	0.69410	D	0.0625616827160598	0.07567	T	0.909009	0.67793	D	0.6407565	0.74871	0.8329081	0.90375	0.8647306	0.88450	0.819978	0.89538	-7.451	0.57265	T	.	.	0.249	0.49865	B	.;.;.	.;.;.	3.349247	0.46190	22.3	0.93749240746247742	0.23689	0.96220	0.68087	D	AEFBI	0.719201	0.67016	D	0.190068207346719	0.50722	3.259598	0.344624763202159	0.58183	3.98754	0.999974450366934	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	4.892000	0.62883	6.138000	0.54012	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.070	0.80721	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1112.33	33	chr5	111113152	.	T	G	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.08;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1073	18	0	1	0
chr5	111119021	111119021	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon17:c.A1805G:p.D602G	Glaucoma 1, open angle, G	1	1506	14	1	0	16	0.00528402	.	.	.	16619	not_specified|Glaucoma_1,_open_angle,_G|not_provided	MedGen:CN169374|MedGen:C1835933,OMIM:609887|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.926	0.145943051313	0.0055	0.00139776	0.0042	0.0009	0.0037	0	0.0015	0.0065	0.0055	0.0007	0.0043919	679	154602	rs34595252	0.0066	0.0067	0.0067	0.0066	0.0078	0.0065	0.0065	0.0077	0.0076	0.0013	0.0041	0.0072	5.044e-05	0.0016	0.0064	0.0078	0.0064	0.0007	0.0046	0.0046	0.0049	0.0042	0.0071	0.0043	0.0042	0.0063	0.0061	0.0015	0.0022	0.0071	0.0087	0	0.0007	0.0102	0.0068	0.0085	0.0015	.	.	.	0.014	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.97	0.96570	H	-1.41	0.80560	T	-6.41	0.91226	D	0.837	0.83269	0.634	0.92336	D	0.702	0.89735	D	9	0.051918864	0.05146	T	0.145943	0.82810	D	0.926	0.98192	.	.	0.951965153022	0.95145	0.7251869714005635	0.72462	0.249442458714	0.27520	0.573815584183	0.49216	T	0.528265	0.83628	D	0.126704	0.67039	D	0.41379	0.92548	D	0.162536933819761	0.18057	T	0.938606	0.76932	D	0.6678618	0.76319	0.8412156	0.90918	0.92143774	0.93389	0.85915357	0.92121	-11.76	0.83662	D	0.7100612210578926	0.79015	0.935	0.85414	P	.;.;.	.;.;.	5.114656	0.85525	28.6	0.99868019287640497	0.94637	0.98820	0.87283	D	AEFBI	0.876605	0.80071	D	0.969284952116705	0.94719	12.98308	0.907067153494353	0.95874	14.05755	0.999999999993032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.035000	0.89178	11.176000	0.88137	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.635	0.84906	899	0.25060	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006552	0.015152	0.008152	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	833.33	40	chr5	111119021	.	A	G	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=790;ExcessHet=0;FS=9.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.01;SOR=1.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr5	112145926	112145926	C	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon23:c.G2005T:p.V669F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0010	0	0	0	0.0006	0.0017	0	0.0009	0.0004851	75	154602	rs141453257	0.0019	0.0009	0.0020	0.0018	0.0029	0.0017	0.0017	0.0027	0.0026	0.0005	0.0005	0	0	0.0013	0.0004	0.0029	0.0019	0.0006	0.0018	0.0018	0.0018	0.0017	0.0031	0.0016	0.0015	0.0028	0.0026	0.0006	0	0.0007	0	0	0.0017	0	0.0031	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1263.33	107	chr5	112145926	.	C	A	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.194;DP=911;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.315;SOR=0.58	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr5	113084135	113084135	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_002387:exon8:c.G1031A:p.R344Q,MCC:NM_001085377:exon10:c.G1601A:p.R534Q	Colorectal cancer, somatic	0	225	1	0	0	1	0.00221729	.	.	.	2301723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0277488780238	0.0002	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.88e-05	6	154602	rs146838176	1.71e-05	1.71e-05	1.906e-05	1.513e-05	2.987e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	2.987e-05	0	0	0	0	0	2.158e-05	0	0	1.972e-05	1.971e-05	2.571e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.018	0.53172	D	0.09	0.40267	T	0.994	0.70673	D	0.885	0.71005	P	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	0.895	0.22405	L	2.29	0.38556	T	-0.88	0.23808	N	0.787	0.78356	-0.9491	0.41126	T	0.169	0.50890	T	10	0.6347123	0.68716	D	0.027749	0.50522	D	0.246	0.55340	.	.	0.535102873643	0.53161	0.6142870406330622	0.61360	0.454620261349	0.45150	0.748307943344	0.74196	T	0.132175	0.46211	T	-0.179728	0.23774	T	-0.31004	0.43655	T	0.623989284038544	0.37370	D	0.967703	0.88280	D	0.2964743	0.52587	0.22749856	0.47762	0.2964743	0.52587	0.22749856	0.47761	-3.345	0.14325	T	0.3160423134066734	0.41408	0.113	0.43640	B	.;.;.;.	.;.;.;.	5.420409	0.90688	31	0.99951309836235014	0.99944	0.97574	0.75643	D	AEFBI	0.709559	0.66360	D	0.53196216391727	0.68992	5.294022	0.581978706614635	0.73648	6.00507	0.999999999939711	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	5.726000	0.68163	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.325	0.94246	855	0.34697	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1991.33	34	chr5	113084135	.	C	T	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=761;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.66;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1359	18	0	1	0
chr5	113340599	113340599	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.G547A:p.A183T	Colorectal cancer, somatic	425	1090	7	0	0	7	0.00320073	.	.	.	734804	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0033434493211	0.0017	0.000798722	0.0025	0.0007	0.0010	0	0.0023	0.0038	0	0.0006	0.0023286	360	154602	rs75148264	0.0027	0.0027	0.0028	0.0026	0.0064	0.0026	0.0026	0.0048	0.0042	0.0006	0.0017	0.0065	0	0.0020	0.0064	0.0030	0.0030	0.0007	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0030	0.0027	0.0008	0	0.0037	0.0063	0.0002	0.0011	0	0.0024	0.0038	0.0012	0.195	0.20759	T	0.06	0.45744	T	0.0	0.02946	B	0.001	0.04355	B	0.450843	0.12509	N	0.642545	1	0.08975	N	.	.	.	1.25	0.36512	T	-0.04	0.07590	N	0.312	0.35194	-1.0062	0.28095	T	0.033	0.13986	T	9	0.0044106245	0.00090	T	0.003343	0.07451	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.19501911047765577	0.19419	0.0765748949308	0.08593	0.273665159941	0.06624	T	.	.	.	-0.691105	0.00041	T	-0.768866	0.02805	T	0.00031697255326435	0.00003	T	0.40256	0.10281	T	.	.	.	.	.	.	.	.	-3.641	0.18452	T	.	.	0.073	0.04806	B	.	.	0.349032	0.07221	3.817	0.74195682189564149	0.10605	0.07314	0.13336	N	AEFDBCI	0.046672	0.07775	N	-1.31891526004582	0.03459	0.1545445	-1.35575469894214	0.03738	0.1749991	0.999839913408045	0.43792	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.75052	0.99595	0	.	.	4.2	-0.0748	0.13062	0.058000	0.14178	0.242000	0.16320	-0.842000	0.02783	0.017000	0.19353	0.039000	0.21534	0.302000	0.24547	0.0:0.6731:0.1118:0.2152	8.803	0.34077	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.005051	0.006793	0.000000	0.000000	0.017241	0.009146	0.003788	0.05263	2798.83	34	chr5	113340599	.	C	T	2798.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.822;DP=909;ExcessHet=0.119;FS=0.463;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.527;SOR=0.679	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1517,0,1503	17	0	2	0
chr5	113433765	113433765	G	T	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.C1075A:p.Q359K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00483209450223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	1.0	0.01155	T	0.011	0.15914	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-0.25	0.67011	T	-0.27	0.11366	N	0.101	0.08366	-1.0405	0.17162	T	0.101	0.37493	T	9	0.07807228	0.12399	T	0.004832	0.12098	T	0.027	0.05988	0.214	0.13354	0.381239546501	0.37731	0.21532247645173763	0.21448	0.121863456841	0.13733	0.310176283121	0.11933	T	0.050064	0.28489	T	-0.190111	0.22243	T	-0.510858	0.21228	T	0.0511216702483089	0.05696	T	0.427957	0.11563	T	0.080919705	0.18568	0.051159296	0.08179	0.080919705	0.18568	0.051159296	0.08178	-4.26	0.27612	T	.	.	0.073	0.04723	B	.	.	0.233057	0.06140	2.587	0.58159859203766029	0.05930	0.00863	0.03429	N	AEFDBI	0.046750	0.07797	N	-1.25221566691543	0.04270	0.1924086	-1.32814827081108	0.04070	0.1912241	0.0182689497171804	0.13039	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.9	-0.218	0.12495	0.070000	0.14440	1.799000	0.28866	0.373000	0.20310	0.000000	0.06391	0.021000	0.20819	0.003000	0.05239	0.4381:0.0:0.5618:0.0	2.705	0.04840	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	795.33	54	chr5	113433765	.	G	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.589;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.104;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1070	18	0	1	0
chr5	113553967	113553967	C	T	exonic	YTHDC2	.	nonsynonymous SNV	YTHDC2:NM_001345976:exon14:c.C1178T:p.T393I,YTHDC2:NM_001345975:exon15:c.C1592T:p.T531I,YTHDC2:NM_022828:exon16:c.C2078T:p.T693I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630	0.113074275696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773932822	9.06e-06	1.026e-05	8.292e-06	9.84e-06	0.0005	5.06e-06	3.9e-06	0.0001	7.787e-05	0	0	0	0	0	0.0005	9.082e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	3.84	0.95699	H	0.85	0.75911	T	-5.49	0.85765	D	0.917	0.92317	0.872	0.95296	D	0.770	0.92189	D	10	0.91486096	0.90848	D	0.113074	0.79145	D	0.630	0.85769	0.699	0.83592	0.508361140133	0.50476	0.8913892696044378	0.89108	0.508299232049	0.48989	0.850483477116	0.89687	D	0.771167	0.96066	D	0.411074	0.90541	D	0.352703	0.90423	D	0.998528242111206	0.94393	D	0.958304	0.94130	D	0.9348186	0.94722	0.9180656	0.96261	0.9348186	0.94722	0.9180656	0.96262	-10.105	0.74538	D	.	.	0.994	0.95728	P	.;.	.;.	4.583249	0.72430	25.8	0.99905525059376943	0.97651	0.97072	0.72527	D	AEFBI	0.694636	0.65357	D	1.04613102861581	0.96998	15.43871	0.936582413932115	0.96978	15.41156	0.999774960236731	0.42865	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	5.906000	0.69639	7.684000	0.65448	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.395	0.94594	896	0.25515	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	34	chr5	113553967	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=692;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.072;SOR=1.004	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr5	113567666	113567666	A	G	exonic	YTHDC2	.	nonsynonymous SNV	YTHDC2:NM_001345976:exon21:c.A2161G:p.N721D,YTHDC2:NM_001345975:exon22:c.A2575G:p.N859D,YTHDC2:NM_022828:exon23:c.A3061G:p.N1021D	.	440	1076	6	0	0	6	0.00278035	.	.	.	3215976	YTHDC2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00465682954189	0.0002	0.000399361	0.0006	0	0.0002	0	0	0.0003	0	0.0030	0.0004592	71	154602	rs376412303	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	4.949e-05	0	2.557e-05	0	0.0010	0.0001	0.0003	0.0027	0.0002	0.0002	7.714e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.323	0.13436	T	0.704	0.05642	T	0.012	0.16265	B	0.089	0.29769	B	0.007909	0.31126	N	0.349959	0.998541	0.45064	D	1.5	0.37844	L	4.22	0.02640	T	-0.98	0.25986	N	0.525	0.55453	-0.9267	0.44616	T	0.013	0.05033	T	10	0.01039058	0.00231	T	0.004657	0.11566	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.334134623925305	0.33326	0.207573174993	0.23217	0.548744082451	0.45681	T	0.009249	0.08431	T	-0.557106	0.00264	T	-0.577636	0.14756	T	0.03045305441033	0.02060	T	0.877812	0.59215	D	0.15735008	0.35460	0.14383073	0.34169	0.15735008	0.35459	0.14383073	0.34168	-2.34	0.04779	T	.	.	0.191	0.40921	B	.	.	3.413038	0.47354	22.4	0.99104580660717545	0.52546	0.98925	0.88709	D	AEFBI	0.548203	0.56158	D	0.0133729334074716	0.42462	2.558945	0.190865042997714	0.49344	3.138825	0.999904808057492	0.45458	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	5.915000	0.69704	11.187000	0.88524	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.534	0.75727	894	0.26265	Domain of unknown function DUF1605	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	694.33	33	chr5	113567666	.	A	G	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.303;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.81;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	82.15	34	chr5	116015368	.	T	TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	82.15	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.156;DP=973;ExcessHet=0.119;FS=40.307;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-2.229;SOR=4.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1172:.	17	0	2	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.02632	1468.33	35	chr5	119133212	.	A	C	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=778;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.179;SOR=0.505	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1482,0,2411	18	0	1	0
chr5	119148942	119148942	A	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.A3115T:p.S1039C,DMXL1:NM_001290322:exon18:c.A2596T:p.S866C,DMXL1:NM_005509:exon18:c.A3115T:p.S1039C,DMXL1:NM_001349239:exon19:c.A3115T:p.S1039C,DMXL1:NM_001349240:exon19:c.A3115T:p.S1039C	.	423	1081	18	0	0	18	0.00825688	.	.	.	3199238	DMXL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.061	0.0208012841409	0.0015	0.00159744	0.0020	0.0005	0.0009	0	0.0005	0.0022	0.0011	0.0046	0.0019599	303	154602	rs149431940	0.0021	0.0021	0.0019	0.0022	0.0056	0.0020	0.0020	0.0051	0.0050	0.0005	0.0008	0.0078	2.52e-05	0.0003	0.0052	0.0019	0.0023	0.0056	0.0017	0.0017	0.0019	0.0016	0.0052	0.0015	0.0015	0.0036	0.0031	0.0006	0	0.0007	0.0075	0	9.406e-05	0.0136	0.0024	0.0028	0.0052	0.009	0.57480	D	.	.	.	0.895	0.49247	P	0.716	0.54713	P	0.000029	0.55875	D	0.189059	0.579853	0.32365	D	0.695	0.17993	N	1.38	0.34050	T	-1.23	0.31170	N	0.363	0.40465	-0.8849	0.49365	T	0.089	0.34188	T	10	0.0051154494	0.00111	T	0.020801	0.43464	T	0.061	0.17616	.	.	0.151262610727	0.14761	0.45893462374903576	0.45811	0.235143820594	0.26041	0.435257196426	0.29929	T	0.024995	0.21180	T	-0.444269	0.01221	T	-0.409847	0.32243	T	0.0382965835248343	0.03384	T	0.857714	0.54741	D	0.09775555	0.23047	0.098359466	0.23446	0.09775555	0.23047	0.098359466	0.23445	-6.176	0.47728	T	.	.	0.072	0.04238	B	.;.	.;.	4.114259	0.61441	24.3	0.99038541941784364	0.50962	0.91893	0.54491	D	AEFBI	0.271313	0.38719	N	0.333491220154494	0.57874	3.956687	0.389902152134229	0.60942	4.287613	0.828160635944893	0.24645	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.5	4.2	0.48814	2.484000	0.44900	8.081000	0.76481	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.6798:0.0:0.3202:0.0	3.541	0.07368	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	5329.83	36	chr5	119148942	.	A	T	5329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.399;DP=993;ExcessHet=0.119;FS=0.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.26;SOR=0.742	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	17	0	2	0
chr5	119150083	119150083	G	-	exonic	DMXL1	.	frameshift deletion	DMXL1:NM_001290321:exon18:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001290322:exon18:c.3737delG:p.C1246Ffs*14,DMXL1:NM_005509:exon18:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001349239:exon19:c.4256delG:p.C1419Ffs*14,DMXL1:NM_001349240:exon19:c.4256delG:p.C1419Ffs*14	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	.	.	.	rs763455805	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0033	0.0001	8.95e-05	0.0021	2.519e-05	7.503e-05	0.0052	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.808e-05	0	0.0003	0.0017	0	0	0.0068	0.0004	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3158.29	36	chr5	119150082	.	TG	T	3158.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=879;ExcessHet=0;FS=4.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=-2.426;SOR=1.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	18	0	1	0
chr5	119150085	119150089	TACTC	-	exonic	DMXL1	.	frameshift deletion	DMXL1:NM_001290321:exon18:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001290322:exon18:c.3739_3743del:p.Y1247Ifs*6,DMXL1:NM_005509:exon18:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001349239:exon19:c.4258_4262del:p.Y1420Ifs*6,DMXL1:NM_001349240:exon19:c.4258_4262del:p.Y1420Ifs*6	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0	0.0003	0	0.0002	3.84e-05	1	26028	rs773838922	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0033	0.0001	8.95e-05	0.0021	2.519e-05	7.504e-05	0.0052	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	0.0003	0.0017	0	0	0.0068	0.0004	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3143.29	36	chr5	119150084	.	TTACTC	T	3143.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.001;DP=884;ExcessHet=0;FS=4.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.02;ReadPosRankSum=-2.476;SOR=1.102	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	18	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	625.71	48	chr5	119499449	.	T	C	625.71	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.063;DP=1334;ExcessHet=2.0135;FS=121.192;InbreedingCoeff=-0.1823;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.66;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	13	0	6	0
chr5	119634637	119634637	A	G	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.A748G:p.K250E,FAM170A:NM_001367956:exon3:c.A889G:p.K297E,FAM170A:NM_182761:exon3:c.A889G:p.K297E	.	.	.	.	.	.	.	.	.	.	.	2284009	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00351520923649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.42e-05	0.0034	0	0	0	1.0	0.00964	T	0.65	0.06812	T	0.0	0.02946	B	0.001	0.04355	B	0.558608	0.05411	N	1.239830	1	0.08975	N	0.385	0.12166	N	1.37	0.34253	T	-0.22	0.10480	N	0.118	0.16028	-1.0205	0.23551	T	0.061	0.25346	T	9	0.044412255	0.03395	T	0.003515	0.07969	T	0.023	0.04649	0.092	0.01108	0.0138822411134	0.00435	0.01008998186712808	0.00970	.	.	0.246334731579	0.03392	T	0.003044	0.02443	T	-0.365166	0.03846	T	-0.762312	0.03030	T	0.0311851204323327	0.02175	T	0.330567	0.06924	T	0.045461673	0.07445	0.04170721	0.04802	0.045461673	0.07445	0.04170721	0.04802	-2.271	0.04479	T	.	.	0.068	0.02702	B	.;.;.	.;.;.	-0.266738	0.02767	0.373	0.15905969846632681	0.00406	0.00180	0.01055	N	AEFDBI	0.020637	0.00835	N	-1.23003652722952	0.04570	0.2065075	-1.28005156504183	0.04700	0.2223331	0.310888204654878	0.19285	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.96	-0.436	0.11663	-0.251000	0.08837	-0.004000	0.13159	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.5622:0.0:0.4378:0.0	6.682	0.22316	950	0.11238	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000512	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1135.33	36	chr5	119634637	.	A	G	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=805;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.163;SOR=0.896	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1344	18	0	1	0
chr5	119634664	119634664	G	T	exonic	FAM170A	.	stopgain	FAM170A:NM_001163991:exon2:c.G775T:p.E259X,FAM170A:NM_001367956:exon3:c.G916T:p.E306X,FAM170A:NM_182761:exon3:c.G916T:p.E306X	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	1.813e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs776332032	4.162e-06	4.788e-06	2.751e-06	5.597e-06	0.0005	1.5e-06	9.8e-07	0.0001	7.689e-05	0	0	0	0	0	0.0005	0	0	3.724e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617046	0.10813	N	0.797668	0.999988	0.54805	A	.	.	.	.	.	.	.	.	.	0.284	0.32259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204523	0.74316	D	0.281708	0.87216	D	0.688379942019189	0.40173	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	6.499053	0.95309	34	0.98899588437987496	0.48163	0.09175	0.14983	N	AEFDBI	0.055379	0.10152	N	0.413891742930688	0.62185	4.430447	0.0773660092820722	0.43413	2.643532	0.851986863085142	0.25062	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	3.43	0.38372	0.939000	0.28576	2.447000	0.32796	0.672000	0.70159	0.006000	0.17386	0.854000	0.27420	0.457000	0.28051	0.1091:0.0:0.8909:0.0	8.031	0.29626	950	0.11238	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000514	0.000000	0.000000	0.003333	0.000000	0.000000	0.000000	0.000000	0.02632	991.33	36	chr5	119634664	.	G	T	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.983;DP=752;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.739;SOR=1.188	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1344	18	0	1	0
chr5	120686311	120686311	T	C	exonic	PRR16	.	nonsynonymous SNV	PRR16:NM_001300783:exon2:c.T517C:p.C173R,PRR16:NM_001308087:exon2:c.T307C:p.C103R,PRR16:NM_016644:exon3:c.T448C:p.C150R,PRR16:NM_001308088:exon4:c.T307C:p.C103R	.	427	1062	29	4	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00279553	0.0061	0.0012	0.0012	0	0.0033	0.0072	0.0044	0.0124	0.0061772	955	154602	rs140122947	0.0070	0.0070	0.0067	0.0073	0.0120	0.0069	0.0068	0.0114	0.0111	0.0012	0.0021	0.0005	0	0.0034	0.0085	0.0076	0.0058	0.0120	0.0046	0.0046	0.0045	0.0048	0.0143	0.0044	0.0042	0.0116	0.0106	0.0011	0.0121	0.0017	0	0	0.0033	0	0.0076	0.0019	0.0143	0.112	0.72154	T	0.1	0.62352	T	0.226	0.51395	B	0.176	0.46637	B	0.001764	0.38052	N	0.299816	0.999936	0.51612	D	.	.	.	1.0	0.41392	T	-1.92	0.98623	N	0.622	0.74462	-1.0460	0.15534	T	0.081	0.32031	T	9	0.0052689016	0.00115	T	.	.	.	0.128	0.35103	.	.	0.151262610727	0.14761	0.36927414502325967	0.36841	0.18308332438	0.20593	0.5204205513	0.41685	T	0.01708	0.13999	T	-0.393105	0.02568	T	-0.325768	0.41940	T	0.0148276194393841	0.00312	T	0.70113	0.32527	T	0.40580052	0.61133	0.38640827	0.63534	0.3717633	0.58715	0.38640827	0.63533	-2.095	0.03562	T	.	.	0.162	0.45954	B	.;.;.;.;.	.;.;.;.;.	3.443358	0.47909	22.5	0.98893923286780816	0.48055	0.98157	0.80093	D	AEFBI	0.779133	0.71143	D	0.214393683978546	0.51896	3.367477	0.30526535416505	0.55848	3.747679	0.999683871102299	0.41756	0.638212	0.43195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	3.413000	0.52440	1.197000	0.24809	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1627:0.8373	10.498	0.43978	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.002717	0.002924	0.000000	0.025862	0.009146	0.034091	0.02632	2346.33	197	chr5	120686311	.	T	C	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.745;DP=1000;ExcessHet=0;FS=3.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.376;SOR=0.752	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	18	0	1	0
chr5	122020189	122020189	A	G	exonic	SRFBP1	.	nonsynonymous SNV	SRFBP1:NM_152546:exon6:c.A454G:p.N152D	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00275456947645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387131664	4.11e-06	4.104e-06	6.814e-06	1.377e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.466	0.08584	T	0.459	0.12632	T	0.309	0.32767	B	0.058	0.26451	B	0.257128	0.03685	N	1.392810	1	0.08975	N	1.725	0.44537	L	.	.	.	-0.67	0.19297	N	0.127	0.12055	-1.0032	0.28992	T	0.101	0.37316	T	9	0.055455297	0.06063	T	0.002755	0.05694	T	0.057	0.16321	0.234	0.16305	0.0986583533028	0.09354	0.11349827709210726	0.11277	0.00610158621957	0.00535	0.231430619955	0.02076	T	0.024349	0.18415	T	-0.298724	0.08780	T	-0.666873	0.07810	T	0.10639283347621	0.13046	T	0.29867	0.05569	T	0.038753424	0.05224	0.044795662	0.05882	0.038753424	0.05224	0.044795662	0.05882	-3.467	0.15973	T	.	.	0.062	0.01290	B	.	.	2.256859	0.28836	17.93	0.9667118803676632	0.30665	0.62552	0.31816	D	AEFDBHIJ	0.095747	0.19339	N	-0.46275075254192	0.23310	1.250838	-0.44644393386186	0.23650	1.290843	0.999917002726958	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.66	1.62	0.22817	1.198000	0.31831	0.935000	0.22809	0.691000	0.84096	0.527000	0.27166	0.025000	0.21018	0.403000	0.26849	0.6915:0.2422:0.0663:0.0	9.344	0.37260	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	34	chr5	122020189	.	A	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.204;DP=745;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.087;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr5	122020682	122020682	A	G	exonic	SRFBP1	.	nonsynonymous SNV	SRFBP1:NM_152546:exon6:c.A947G:p.K316R	.	427	1094	1	0	0	1	0.00045683	.	.	.	3330546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0050722624373	8.4e-05	.	9.199e-05	0	8.682e-05	0	0	0.0002	0	0	7.12e-05	11	154602	rs371416189	5.2e-05	5.199e-05	4.901e-05	5.501e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.658e-05	0	2.237e-05	0	2.52e-05	0	0.0003	5.127e-05	0.0001	9.279e-05	9.847e-05	9.843e-05	0.0001	5.37e-05	0.0002	6.001e-05	4.875e-05	0.0001	7.894e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.135	0.26192	T	0.33	0.18560	T	0.001	0.07471	B	0.002	0.06944	B	0.001140	0.40136	N	0.290858	1	0.08975	N	1.21	0.30464	L	.	.	.	-0.81	0.22294	N	0.083	0.05929	-1.0520	0.13845	T	0.058	0.24279	T	9	0.056292832	0.06286	T	0.005072	0.12846	T	0.019	0.03383	.	.	0.110078149338	0.10416	0.032443386657624786	0.03192	0.00578835925109	0.00504	0.196809589863	0.00370	T	0.080278	0.36325	T	-0.387002	0.02812	T	-0.601995	0.12643	T	0.0249620897678173	0.01268	T	0.407359	0.10471	T	0.037836257	0.04926	0.04783227	0.06976	0.037836257	0.04925	0.04783227	0.06976	-4.953	0.36325	T	.	.	0.073	0.04764	B	.	.	0.348416	0.07216	3.810	0.93223990533780343	0.22902	0.61612	0.31536	D	AEFDGBI	0.090412	0.18320	N	-0.793985775409907	0.13466	0.6635571	-0.770632434786595	0.15217	0.7991507	0.998194597088223	0.36560	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	2.61	0.30255	1.559000	0.35928	1.427000	0.26414	0.752000	0.88150	0.157000	0.23755	0.994000	0.32194	0.069000	0.16583	0.6635:0.1619:0.1746:0.0	4.660	0.12023	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3896.83	34	chr5	122020682	.	A	G	3896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.346;DP=917;ExcessHet=0.119;FS=3.89;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.246;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	17	0	2	0
chr5	122077510	122077510	G	T	exonic	LOX	.	nonsynonymous SNV	LOX:NM_002317:exon1:c.C476A:p.P159Q	Aortic aneurysm, familial thoracic 10, Autosomal dominant	419	1080	22	1	0	24	0.010989	.	.	.	438857	Aortic_aneurysm,_familial_thoracic_10|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00982206914	0.0064	0.00179712	0.0055	0.0013	0.0028	0	0.0050	0.0085	0.0090	0.0010	0.0055303	855	154602	rs41407546	0.0090	0.0090	0.0092	0.0088	0.0120	0.0089	0.0088	0.0106	0.0106	0.0016	0.0040	0.0016	0	0.0048	0.0120	0.0108	0.0083	0.0011	0.0062	0.0062	0.0068	0.0056	0.0103	0.0059	0.0058	0.0097	0.0095	0.0019	0.0011	0.0050	0.0026	0	0.0051	0.0272	0.0103	0.0052	0.0010	0.008	0.58626	D	0.051	0.47828	T	0.41	0.35064	B	0.226	0.38054	B	0.178222	0.17175	N	0.580633	1	0.08975	N	1.39	0.34934	L	1.94	0.22678	T	-1.96	0.45404	N	0.156	0.16168	-1.0840	0.06591	T	0.037	0.15770	T	10	0.0066544116	0.00151	T	0.009822	0.25608	T	0.088	0.25558	.	.	0.260580752073	0.25663	0.5105584311464665	0.50977	0.876067885849	0.69571	0.449770927429	0.31912	T	0.362737	0.72859	T	-0.473313	0.00811	T	-0.445124	0.28237	T	0.0129947093401437	0.00225	T	0.546745	0.18722	T	0.0991288	0.23390	0.1298976	0.31223	0.12291992	0.28874	0.11399285	0.27514	-4.662	0.32941	T	0.110381530596629	0.09323	0.066	0.02370	B	.;.	.;.	1.640852	0.20944	14.98	0.86189750333999571	0.16372	0.07702	0.13705	N	AEFDGBCI	0.162385	0.28855	N	-1.02607228152956	0.08065	0.3768727	-1.05485551176085	0.08606	0.4239563	0.999997389867034	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.56214	0.19341	0	.	.	4.3	3.42	0.38259	0.568000	0.23326	4.162000	0.42217	-0.282000	0.06404	0.057000	0.21666	1.000000	0.68203	0.583000	0.30967	0.0871:0.0:0.9129:0.0	13.238	0.59407	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.014946	0.038012	0.000000	0.000000	0.003049	0.007576	0.02632	2898.33	34	chr5	122077510	.	G	T	2898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.37;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	18	0	1	0
chr5	122077891	122077891	G	A	exonic	LOX	.	nonsynonymous SNV	LOX:NM_002317:exon1:c.C95T:p.P32L	Aortic aneurysm, familial thoracic 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1670643	not_provided|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0436908217118	.	.	0.0005	0	0	0.0065	0	9.601e-05	0	0	0.0001035	16	154602	rs780762236	4.217e-05	4.788e-05	3.595e-05	4.852e-05	0.0014	3.308e-05	3.025e-05	0.0011	0.0010	0	0	0	0.0014	0	0	7.425e-06	1.759e-05	0	6.573e-05	6.563e-05	6.429e-05	6.723e-05	0.0019	3.518e-05	2.617e-05	0.0011	0.0008	0	0	0	0	0.0019	0	0	0	0	0	0.005	0.63226	D	0.115	0.36630	T	0.645	0.40526	P	0.043	0.24256	B	0.028403	0.25606	N	0.366968	0.641371	0.30613	N	1.525	0.38595	L	1.93	0.22881	T	-2.12	0.48184	N	0.087	0.06454	-1.0372	0.18171	T	0.038	0.16333	T	10	0.010296494	0.00230	T	0.043691	0.61115	D	0.070	0.20419	0.234	0.16305	0.206203607746	0.20212	0.40339174519576115	0.40255	0.953332268801	0.72727	0.797413706779	0.81569	T	0.353451	0.72075	T	-0.521458	0.00432	T	-0.527672	0.19519	T	0.142082949608632	0.16453	T	0.748825	0.36981	T	0.06286038	0.13174	0.112666965	0.27185	0.06286038	0.13174	0.112666965	0.27185	-5.262	0.39566	T	0.2236724046985275	0.30196	0.101	0.17573	B	.;.	.;.	3.813425	0.55018	23.6	0.99469028455553665	0.66207	0.07465	0.13481	N	ALL	0.066640	0.13062	N	-0.584498424353166	0.19415	1.01593	-0.57225653421742	0.20217	1.088257	0.99999988715838	0.74766	0.623204	0.39778	0	0.491552	0.07993	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	4.34	2.37	0.28337	0.454000	0.21539	3.113000	0.36368	-0.326000	0.05813	0.991000	0.37257	1.000000	0.68203	0.533000	0.29776	0.0:0.1428:0.7287:0.1285	11.754	0.51132	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	811.33	34	chr5	122077891	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.629;DP=743;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.124;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	18	0	1	0
chr5	122450940	122450940	G	A	exonic	SNCAIP	.	nonsynonymous SNV	SNCAIP:NM_001308109:exon7:c.G881A:p.R294Q,SNCAIP:NM_001242935:exon8:c.G995A:p.R332Q,SNCAIP:NM_001308105:exon8:c.G1913A:p.R638Q,SNCAIP:NM_001308106:exon8:c.G989A:p.R330Q,SNCAIP:NM_001308107:exon8:c.G995A:p.R332Q,SNCAIP:NM_001308108:exon8:c.G1175A:p.R392Q,SNCAIP:NM_005460:exon10:c.G2093A:p.R698Q,SNCAIP:NM_001308100:exon12:c.G2234A:p.R745Q	.	.	.	.	.	.	.	.	.	.	.	4072313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0148649718064	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350254829	1.026e-05	1.094e-05	1.497e-05	5.5e-06	1.16e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	0	0	0	1.873e-05	0	9.892e-06	3.311e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.002	0.72154	D	0.212	0.38305	T	0.889	0.77913	P	0.217	0.73362	B	0.000005	0.62929	D	0.098083	0.922436	0.81001	D	1.79	0.46772	L	4.72	0.17113	T	-1.35	0.34992	N	0.274	0.31027	-1.0570	0.12517	T	0.061	0.25528	T	10	0.14065054	0.26733	T	0.014865	0.35264	T	0.166	0.42578	0.213	0.13210	0.685470486175	0.68278	0.27946872615975726	0.27859	0.559095319866	0.52467	0.275631070137	0.06890	T	0.096727	0.39882	T	-0.13653	0.30444	T	-0.433893	0.29495	T	0.931919157505035	0.59760	D	0.994101	0.98044	D	0.19190437	0.40838	0.13483559	0.32299	0.19190437	0.40838	0.13483559	0.32298	-3.457	0.15835	T	.	.	0.138	0.34492	B	.;.;.;.	.;.;.;.	4.298407	0.65610	24.9	0.99958341463545275	0.99986	0.90876	0.52428	D	AEFBI	.	.	.	0.455051689326835	0.64491	4.704767	0.53436343888021	0.70317	5.487475	0.993595867249931	0.33278	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.06	5.09	0.68647	4.228000	0.58419	6.591000	0.56026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.3058:0.0:0.6942:0.0	4.057	0.09302	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2798.33	201	chr5	122450940	.	G	A	2798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=817;ExcessHet=0;FS=4.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.38;SOR=1.049	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1287	18	0	1	0
chr5	123029388	123029388	C	-	exonic	PPIC	.	frameshift deletion	PPIC:NM_000943:exon2:c.148delG:p.D50Mfs*6	.	441	1071	10	0	0	10	0.00464684	.	.	.	2827955	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0071	0.00239617	0.0052	0.0016	0.0041	0.0001	0.0009	0.0078	0.0067	0.0019	0.0011526	30	26028	rs45449493	0.0072	0.0072	0.0074	0.0070	0.0087	0.0071	0.0071	0.0082	0.0081	0.0010	0.0049	0.0121	5.051e-05	0.0006	0.0087	0.0083	0.0080	0.0022	0.0049	0.0049	0.0053	0.0045	0.0073	0.0046	0.0045	0.0068	0.0066	0.0013	0	0.0071	0.0133	0.0002	0.0002	0.0068	0.0073	0.0104	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007553	0.005051	0.010870	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	2843.29	36	chr5	123029387	.	TC	T	2843.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.034;DP=807;ExcessHet=0;FS=11.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.229;SOR=0.462	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr5	123090201	123090201	G	A	exonic	PRDM6	.	nonsynonymous SNV	PRDM6:NM_001136239:exon2:c.G187A:p.E63K	Patent ductus arteriosus 3, Autosomal dominant	179	1338	5	0	0	5	0.00186498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.225724863194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.497e-07	6.841e-07	0	1.521e-06	9.494e-07	0	0	.	.	0	0	0	0	0	0	9.494e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.715	0.05434	T	0.386	0.34500	B	0.035	0.22741	B	.	.	.	.	0.93576	0.26935	N	0.55	0.14455	N	2.95	0.09635	T	-0.23	0.10656	N	0.119	0.10911	-1.0284	0.20973	T	0.016	0.06616	T	9	0.17338863	0.32164	T	0.225725	0.88011	D	0.041	0.10877	0.324	0.30549	0.202086224978	0.19791	0.28300954831199754	0.28213	.	.	0.900883436203	0.96537	D	0.003871	0.03282	T	-0.160718	0.26649	T	-0.468637	0.25662	T	0.465528845787048	0.31367	T	0.645335	0.25688	T	0.20161435	0.42178	0.2800212	0.53974	0.20161435	0.42177	0.2800212	0.53973	-4.43	0.29961	T	.	.	0.339	0.55835	B	.	.	2.922755	0.38803	20.8	0.99597450516667618	0.73983	0.63710	0.32174	D	AEFDBHCIJ	0.222750	0.34720	N	-0.553228640201304	0.20383	1.074081	-0.497196642576773	0.22232	1.206474	0.999999999193119	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.26	3.26	0.36471	2.943000	0.48719	7.527000	0.59855	0.443000	0.21123	0.710000	0.28722	1.000000	0.68203	0.107000	0.18608	0.0:0.0:1.0:0.0	13.410	0.60383	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	481.33	29	chr5	123090201	.	G	A	481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=603;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.284;SOR=1.11	GT:AD:DP:GQ:PL	0/0:36,0:36:93:0,93,1395	18	0	1	0
chr5	123090204	123090204	C	G	exonic	PRDM6	.	nonsynonymous SNV	PRDM6:NM_001136239:exon2:c.C190G:p.P64A	Patent ductus arteriosus 3, Autosomal dominant	179	1335	8	0	0	8	0.0029873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.208553936255	.	0.000399361	0.0024	0.0094	0	0	0	0.0020	0.0094	0.0024	0.0003363	52	154602	rs113582737	0.0033	0.0030	0.0033	0.0032	0.0046	0.0032	0.0032	0.0034	0.0034	0.0005	0.0022	4.32e-05	0	0.0042	0.0046	0.0035	0.0029	0.0034	0.0021	0.0021	0.0020	0.0022	0.0030	0.0019	0.0018	0.0026	0.0025	0.0004	0	0.0028	0	0.0004	0.0036	0	0.0030	0.0024	0.0025	0.251	0.17069	T	0.355	0.17217	T	0.484	0.36838	P	0.239	0.38566	B	.	.	.	.	0.993271	0.41889	D	0.55	0.14455	N	3.11	0.08194	T	-0.43	0.14390	N	0.189	0.20660	-1.0097	0.27012	T	0.012	0.04510	T	9	0.0049643815	0.00106	T	0.208554	0.87152	D	0.058	0.16647	.	.	0.193865811164	0.18958	0.32023750187045075	0.31936	.	.	0.84181034565	0.88370	D	0.00239	0.01788	T	-0.560964	0.00250	T	-0.580352	0.14513	T	0.0362440496709815	0.03023	T	0.452755	0.12846	T	0.09035101	0.21138	0.19891179	0.43747	0.081304766	0.18673	0.20447454	0.44572	-4.118	0.25555	T	.	.	0.077	0.06387	B	.	.	1.759070	0.22376	15.59	0.84479274333507726	0.15316	0.57535	0.30402	D	AEFDBHCIJ	0.187000	0.31430	N	-0.62895832295392	0.18078	0.9356925	-0.569129063314719	0.20299	1.093069	0.999999999999974	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.26	3.26	0.36471	2.602000	0.45921	2.188000	0.31185	0.397000	0.20528	0.794000	0.29644	1.000000	0.68203	0.098000	0.18187	0.0:1.0:0.0:0.0	13.410	0.60383	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006434	0.000000	0.007937	0.012195	0.000000	0.000000	0.009615	0.000000	0.02632	288.33	27	chr5	123090204	.	C	G	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.328;SOR=0.602	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	18	0	1	0
chr5	123377529	123377529	T	C	exonic	CEP120	.	nonsynonymous SNV	CEP120:NM_001166226:exon16:c.A2125G:p.R709G,CEP120:NM_001375405:exon16:c.A2203G:p.R735G,CEP120:NM_001375406:exon16:c.A2068G:p.R690G,CEP120:NM_001375407:exon16:c.A2203G:p.R735G,CEP120:NM_001375409:exon17:c.A1630G:p.R544G,CEP120:NM_153223:exon17:c.A2203G:p.R735G,CEP120:NM_001375408:exon19:c.A1630G:p.R544G	Short-rib thoracic dysplasia 13 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2729656	Short-rib_thoracic_dysplasia_13_with_or_without_polydactyly|Inborn_genetic_diseases	MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.253	0.0326747083487	.	.	0.0001	0	0	0	0.0003	7.536e-05	0.0011	0.0005	0.0001035	16	154602	rs766787576	7.634e-05	7.73e-05	7.105e-05	8.169e-05	0.0005	6.465e-05	6.012e-05	0.0002	0.0002	0	0	0	0	0.0004	0.0005	5.074e-05	6.793e-05	0.0003	3.942e-05	3.937e-05	2.571e-05	5.375e-05	0.0004	1.715e-05	1.129e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	0.002	0.72154	D	0.015	0.70582	D	0.568	0.38507	P	0.253	0.39112	B	0.000000	0.84330	D	0.048774	0.918159	0.36599	D	2.71	0.79292	M	0.57	0.54347	T	-4.58	0.82450	D	0.56	0.58458	-0.8159	0.54189	T	0.175	0.51832	T	10	0.13099185	0.24930	T	0.032675	0.54438	D	0.253	0.56294	0.164	0.06842	0.478376075226	0.47469	0.350376842980985	0.34951	0.182540845117	0.20516	0.402306854725	0.25390	T	0.208476	0.62945	T	-0.130038	0.31491	T	-0.102601	0.63196	T	0.540216624736786	0.34112	D	0.887611	0.61727	D	0.7060928	0.78392	0.5713524	0.75177	0.7060928	0.78393	0.5713524	0.75178	-9.391	0.70179	D	0.8092063684687988	0.88450	0.133	0.28721	B	.;.;.;.	.;.;.;.	3.617604	0.51181	23.1	0.99618102384615725	0.75233	0.98108	0.79665	D	AEFGBI	0.380515	0.46313	N	0.15394921940671	0.48999	3.105352	0.216970952961271	0.50788	3.267293	0.997593137737185	0.35797	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.5	0.54382	1.809000	0.38560	2.484000	0.32953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1356:0.8644	12.934	0.57699	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1048.33	33	chr5	123377529	.	T	C	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.303;DP=682;ExcessHet=0;FS=4.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.744;SOR=0.253	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr5	124647117	124647117	C	A	exonic	ZNF608	.	nonsynonymous SNV	ZNF608:NM_001385621:exon4:c.G2403T:p.M801I,ZNF608:NM_001385619:exon5:c.G3267T:p.M1089I,ZNF608:NM_001385620:exon5:c.G3267T:p.M1089I,ZNF608:NM_020747:exon5:c.G3267T:p.M1089I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0160563100726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.20230	T	0.445	0.13140	T	0.4	0.34852	B	0.146	0.33945	B	0.000000	0.84330	D	0.078857	1	0.81001	D	2.215	0.62545	M	0.97	0.42888	T	-1.39	0.34397	N	0.549	0.57518	-1.0567	0.12595	T	0.106	0.38808	T	10	0.24053964	0.41214	T	0.016056	0.37127	T	0.112	0.31546	0.358	0.36060	0.283272178027	0.27931	0.23588787766958733	0.23503	0.649325956322	0.58251	0.677070856094	0.63850	T	0.049533	0.28333	T	0.0658462	0.60339	T	-0.143193	0.59840	T	0.773037467869633	0.44622	D	0.89891	0.68723	D	0.23061334	0.45820	0.24073468	0.49454	0.23061334	0.45820	0.24073468	0.49452	-11.367	0.82621	D	.	.	0.626	0.69962	P	.;.	.;.	3.399814	0.47116	22.4	0.99254378395343457	0.56989	0.91218	0.53092	D	AEFDBHCI	0.598312	0.59176	D	0.183878906239804	0.50424	3.232611	0.331736414531776	0.57415	3.906998	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	3.188000	0.50658	7.710000	0.66754	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.905	0.97002	941	0.13089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1711.33	33	chr5	124647117	.	C	A	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=722;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.537;SOR=0.992	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1129	18	0	1	0
chr5	126465474	126465474	G	A	exonic	GRAMD2B	.	nonsynonymous SNV	GRAMD2B:NM_001146321:exon2:c.G113A:p.R38H,GRAMD2B:NM_001349544:exon2:c.G113A:p.R38H	.	440	1080	2	0	0	2	0.000925069	.	.	.	4138725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.00700055482007	.	.	9.884e-05	0	0	0	0	2.997e-05	0	0.0006	7.76e-05	12	154602	rs751082479	6.362e-05	6.362e-05	4.22e-05	8.525e-05	0.0008	5.294e-05	4.911e-05	0.0006	0.0006	2.987e-05	0	0	2.519e-05	0	0.0005	1.709e-05	4.967e-05	0.0008	2.63e-05	2.627e-05	2.571e-05	2.692e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.0	0.91255	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	0.954612	0.43714	D	.	.	.	1.41	0.33412	T	0.27	0.04306	N	0.11	0.09631	-1.0749	0.08369	T	0.049	0.20750	T	8	0.021770895	0.00528	T	0.007001	0.18541	T	0.121	0.33580	0.243	0.17677	0.275215494804	0.27121	.	.	.	.	.	.	.	.	.	.	-0.368692	0.03661	T	-0.391532	0.34372	T	0.0346264006206574	0.02744	T	0.523848	0.17156	T	.	.	.	.	.	.	.	.	-4.215	0.26968	T	.	.	0.115	0.23005	B	.	.	0.405263	0.07765	4.448	0.99855325235472614	0.93458	0.02158	0.06340	N	AEFBI	0.043333	0.06838	N	-0.643191386247719	0.17659	0.9105684	-0.635852675505821	0.18574	0.9928575	0.989458355535963	0.31831	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	-0.926	0.09923	-0.590000	0.05854	-4.471000	0.02139	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.984000	0.60418	0.4621:0.1782:0.3597:0.0	4.182	0.09842	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1272.33	34	chr5	126465474	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.753;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.262;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr5	126568276	126568276	A	G	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001182:exon9:c.T854C:p.M285T,ALDH7A1:NM_001201377:exon9:c.T770C:p.M257T,ALDH7A1:NM_001202404:exon9:c.T854C:p.M285T	Epilepsy, pyridoxine-dependent, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0184746040041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.03741	T	0.619	0.07468	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.075553	0.999994	0.58761	D	-1.285	0.00728	N	-0.9	0.74896	T	0.26	0.04380	N	0.405	0.45426	-0.9217	0.45320	T	0.120	0.41971	T	10	0.23264083	0.40264	T	0.018475	0.40558	T	0.239	0.54358	0.432	0.48171	0.720981639776	0.71852	0.6922387523905483	0.69163	0.17501643723	0.19701	0.745290160179	0.73751	T	0.001344	0.48565	T	-0.00413354	0.51084	T	-0.243714	0.50435	T	0.776105225086212	0.44809	D	0.867413	0.57103	D	0.3385705	0.56165	0.18346637	0.41338	0.3385705	0.56166	0.18346637	0.41337	-5.818	0.44731	T	.	.	0.148	0.45273	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.302927	0.29470	18.13	0.82613504305677932	0.14283	0.94072	0.60028	D	AEFDBI	0.610133	0.59907	D	-0.386253099413398	0.25958	1.413067	-0.104697884334952	0.35200	2.033702	0.469768434842208	0.20697	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	4.090000	0.57417	4.631000	0.44116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8455:0.0:0.0:0.1545	9.705	0.39375	684	0.59539	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr5	126568276	.	A	G	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.995;DP=747;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.17;SOR=0.462	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1224	18	0	1	0
chr5	126804847	126804847	C	T	exonic	LMNB1	.	nonsynonymous SNV	LMNB1:NM_005573:exon2:c.C431T:p.S144L	Leukodystrophy, adult-onset, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0703093704055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.31088	T	0.141	0.33442	T	0.705	0.41986	P	0.184	0.35999	B	0.000011	0.62929	D	0.115201	0.999892	0.50595	D	2.1	0.58353	M	-1.68	0.82897	D	-3.44	0.67941	D	0.446	0.48411	-0.0012	0.82232	T	0.476	0.79920	T	10	0.47336233	0.59996	T	0.070309	0.70968	D	0.332	0.65424	0.49	0.57573	0.577092586857	0.57378	0.15015988308722245	0.14937	0.406825415336	0.41554	0.678284347057	0.64022	T	0.890201	0.97763	D	0.0470572	0.57963	T	-0.170182	0.57427	T	0.96126127243042	0.66034	D	0.998561	0.99239	D	0.34482	0.56661	0.2800386	0.53977	0.34482	0.56661	0.2800386	0.53976	-9.097	0.68318	D	.	.	0.119	0.27192	B	.;.;.	.;.;.	4.643944	0.73957	26.1	0.99841007247166591	0.92143	0.95753	0.66008	D	AEFDBI	0.726940	0.67544	D	0.323511153239752	0.57357	3.902741	0.394575109313799	0.61231	4.320206	0.999999998371818	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.15	5.15	0.70287	1.935000	0.39802	5.933000	0.51351	0.599000	0.40250	0.604000	0.27780	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.020	0.92891	472	0.77968	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1261.33	36	chr5	126804847	.	C	T	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=864;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.497;SOR=0.824	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	127440835	127440835	G	A	exonic	MEGF10	.	nonsynonymous SNV	MEGF10:NM_001256545:exon18:c.G2330A:p.R777H,MEGF10:NM_032446:exon19:c.G2330A:p.R777H	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	513275	not_provided|MEGF10-related_myopathy	MedGen:C3661900|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0513543113422	.	0.000798722	0.0001	9.612e-05	0.0002	0	0	0.0001	0	0.0004	0.0001423	22	154602	rs565304206	5.404e-05	5.404e-05	4.628e-05	6.188e-05	0.0017	4.41e-05	4.082e-05	0.0009	0.0007	0	0	0	0	0	0.0017	4.227e-05	8.279e-05	0.0002	8.535e-05	8.53e-05	5.139e-05	0.0001	0.0006	4.953e-05	3.959e-05	0.0002	9e-05	7.217e-05	0	0.0002	0	0	0	0.0034	1.47e-05	0.0009	0.0006	0.004	0.65419	D	0.065	0.44702	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.06	0.56677	M	1.57	0.29342	T	-3.0	0.62343	D	0.817	0.81459	-0.9455	0.41731	T	0.191	0.54257	T	10	0.6128238	0.67540	D	0.051354	0.64626	D	0.487	0.77528	.	.	0.431114715335	0.42728	0.47616673230400725	0.47536	0.933205851164	0.71920	0.858561396599	0.90898	D	0.14202	0.47739	T	-0.0560774	0.43518	T	-0.026179	0.68621	D	0.577050805091858	0.35505	D	0.957804	0.84101	D	0.6709626	0.76484	0.50768846	0.71547	0.6709626	0.76486	0.50768846	0.71548	-9.278	0.69469	D	0.6582479471156952	0.73134	0.237	0.50334	B	.;.	.;.	5.655595	0.92841	33	0.99946626413219808	0.99913	0.96927	0.71703	D	AEFDBCI	0.926383	0.90740	D	0.813497591026818	0.86942	9.05043	0.815123904940687	0.90825	10.58621	1.0	0.98316	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	6.03	6.03	0.97798	10.003000	0.99689	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.659000	0.32940	0.0:0.0:1.0:0.0	20.575	0.99368	400	0.82730	Laminin EGF domain|EGF-like, conserved site|EGF-like domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|EGF-like, conserved site|EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2231.33	40	chr5	127440835	.	G	A	2231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=822;ExcessHet=0;FS=2.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.172;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	18	0	1	0
chr5	127754307	127754307	G	T	exonic	CCDC192	.	nonsynonymous SNV	CCDC192:NM_001317938:exon3:c.G154T:p.A52S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10498464	0.19382	T	.	.	.	.	.	.	.	.	.	0.021414468118719426	0.02094	.	.	.	.	.	0.031388	0.22020	T	.	.	.	.	.	.	.	.	.	0.493751	0.15260	T	0.031242633	0.02928	0.07577128	0.16716	0.031242633	0.02928	0.07577128	0.16716	-2.994	0.10116	T	.	.	0.11	0.21201	B	.	.	1.614724	0.20630	14.84	0.66970395770396629	0.08215	0.33647	0.24879	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.781986558344171	0.23860	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.113973	0.23998	4.48	0.71	0.17313	0.794000	0.26619	4.086000	0.41773	-0.643000	0.04418	0.790000	0.29595	1.000000	0.68203	0.003000	0.05239	0.4219:0.0:0.5781:0.0	6.323	0.20433	576	0.70006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	33	chr5	127754307	.	G	T	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.316;DP=760;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.403;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1369	18	0	1	0
chr5	128084257	128084257	G	0	exonic	SLC12A2	.	.	.	.	266	1228	2	0	26	28	0.00081367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	408.52	34	chr5	128084257	.	G	*	408.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=674;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.703;SOR=0.5	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1303	17	0	2	0
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	319.76	72	chr5	128288437	.	C	G	319.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.809;DP=1313;ExcessHet=0.119;FS=195.695;InbreedingCoeff=-0.0757;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=3.25;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:46:.:.:0,46,1335:.	16	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,38:129:99:0|1:128288438_C_G:589,0,2927:128288438	6	0	8	5
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	786.67	107	chr5	128288443	.	C	T	786.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.456;DP=1582;ExcessHet=0.3672;FS=130.34;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=2.02;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,38:134:99:0|1:128288438_C_G:574,0,3162:128288438	16	0	2	1
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	786.67	107	chr5	128288443	.	C	G	786.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.456;DP=1582;ExcessHet=0.3672;FS=130.34;InbreedingCoeff=-0.1015;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=2.02;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:96,0:134:99:0|1:128288438_C_G:574,861,4131:128288438	17	0	1	1
chr5	128288444	128288444	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.T6751C:p.C2251R	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.20491362062	7.7e-05	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377678254	0	4.109e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	1	0.81001	D	3.695	0.94570	H	-2.78	0.90962	D	-8.67	0.97580	D	0.973	0.99015	0.348	0.88301	D	0.898	0.96618	D	10	0.9484539	0.94175	D	0.204914	0.86956	D	0.854	0.95507	.	.	0.953610712289	0.95311	0.9912745761668067	0.99122	0.944026267107	0.72331	0.878701329231	0.93785	D	0.925175	0.98690	D	0.504643	0.94436	D	0.487108	0.94357	D	0.999381065368652	0.97194	D	0.950805	0.81197	D	0.9238388	0.93623	0.88105124	0.93635	0.9238388	0.93624	0.88105124	0.93635	-12.745	0.88285	D	0.8721025990884144	0.93250	0.998	0.97573	P	.;.;.	.;.;.	5.128776	0.85820	28.7	0.9978510937982501	0.87131	0.99720	0.98948	D	AEFBI	0.954903	0.97235	D	0.872216392941965	0.90336	10.35719	0.795737407634473	0.89493	9.998643	0.999999875885111	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.72	4.72	0.59248	9.325000	0.96006	11.217000	0.89620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.659	0.68458	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	154.33	141	chr5	128288444	.	A	G	154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.828;DP=1550;ExcessHet=0;FS=85.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=1.51;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:106:99:.:.:0,120,1800:.	18	0	1	0
chr5	128966261	128966261	A	C	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon1:c.A124C:p.I42L,SLC27A6:NM_001317984:exon2:c.A124C:p.I42L,SLC27A6:NM_014031:exon2:c.A124C:p.I42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00436532012237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.04786	T	0.889	0.03143	T	0.0	0.02946	B	0.0	0.01387	B	0.181148	0.17099	N	0.630810	1	0.08975	N	0.07	0.08264	N	0.87	0.46412	T	0.21	0.04776	N	0.059	0.03392	-1.0264	0.21625	T	0.034	0.14639	T	10	0.04039848	0.02606	T	0.004365	0.10624	T	0.029	0.06676	0.443	0.49975	0.178374595973	0.17440	0.25011936044121075	0.24925	0.0501599834194	0.05505	0.327389061451	0.14540	T	0.009914	0.08996	T	-0.319458	0.06942	T	-0.696656	0.06010	T	0.0370621772378034	0.03167	T	0.289971	0.05268	T	0.05215667	0.09685	0.03313541	0.02159	0.05215667	0.09685	0.03313541	0.02159	-3.377	0.14748	T	.	.	0.069	0.02993	B	.;.;.	.;.;.	-1.335579	0.00409	0.008	0.56311195743332199	0.05525	0.09322	0.15101	N	AEDBCI	0.098507	0.19849	N	-1.38483355317165	0.02779	0.123225	-1.42979596280148	0.02958	0.1370893	0.757695880870402	0.23460	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.44	-3.97	0.03821	-1.393000	0.02627	-0.105000	0.11895	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2338:0.4128:0.1796:0.1738	2.249	0.03792	593	0.68665	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1251.33	116	chr5	128966261	.	A	C	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=1677;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.15;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	18	0	1	0
chr5	128988669	128988669	G	T	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon3:c.G755T:p.G252V,SLC27A6:NM_001317984:exon4:c.G755T:p.G252V,SLC27A6:NM_014031:exon4:c.G755T:p.G252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0345972226381	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs772630978	4.105e-06	4.104e-06	0	8.251e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.049800	1	0.81001	D	3.69	0.94526	H	2.53	0.55439	T	-6.65	0.92260	D	0.828	0.82358	-0.1478	0.78970	T	0.393	0.74656	T	9	0.7805331	0.77816	D	0.034597	0.55783	D	0.365	0.68495	0.624	0.75916	0.853351334864	0.85193	0.7439310018292616	0.74339	0.368310320009	0.38387	0.455022573471	0.32630	T	0.072127	0.50495	T	0.170879	0.71205	D	0.189208	0.82525	D	0.99142587184906	0.81718	D	0.827517	0.50983	T	0.9190891	0.93159	0.8512231	0.91585	0.9190891	0.93160	0.8512231	0.91586	-8.913	0.67135	D	.	.	0.740	0.74637	P	.;.;.;.	.;.;.;.	4.669312	0.74605	26.2	0.99748678516041456	0.84077	0.95182	0.63740	D	AEFDI	0.599560	0.59253	D	0.591140819049364	0.72620	5.834673	0.482576877275088	0.66836	5.004195	0.412837409233591	0.20227	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	4.18	4.18	0.48473	7.089000	0.76571	7.566000	0.60594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.829	0.88586	558	0.71484	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1141.33	33	chr5	128988669	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.933;DP=723;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.999;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1246	18	0	1	0
chr5	128990397	128990397	A	G	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon4:c.A902G:p.K301R,SLC27A6:NM_001317984:exon5:c.A902G:p.K301R,SLC27A6:NM_014031:exon5:c.A902G:p.K301R	.	435	1083	2	2	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0111	0.0115815	0.0030	0.0316	0.0017	0	0	7.499e-05	0.0044	0	0.0030207	467	154602	rs61744871	0.0010	0.0010	0.0011	0.0009	0.0306	0.0009	0.0009	0.0290	0.0284	0.0306	0.0020	0.0007	0	0	0.0009	0.0001	0.0023	6.957e-05	0.0092	0.0092	0.0096	0.0089	0.0313	0.0088	0.0087	0.0299	0.0293	0.0313	0.0132	0.0037	0	0	0	0.0102	0.0002	0.0080	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.001897	0.37740	N	0.315706	0.845661	0.28569	N	-0.815	0.01551	N	0.98	0.42122	T	1.44	0.00794	N	0.214	0.23884	-1.0056	0.28277	T	0.007	0.02399	T	9	0.004643023	0.00097	T	.	.	.	0.092	0.26621	.	.	0.415690173769	0.41181	0.35797371676887574	0.35711	0.0449599093349	0.04864	0.275014191866	0.06806	T	0.00462	0.17437	T	-0.698453	0.00037	T	-0.751681	0.03421	T	0.00190122493026739	0.00019	T	0.880212	0.59782	D	0.05103713	0.09314	0.049675044	0.07639	0.05103713	0.09314	0.049675044	0.07638	-0.689	0.00713	T	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	0.243403	0.06232	2.686	0.20795617225985236	0.00764	0.48261	0.28167	N	AEFI	0.055317	0.10132	N	-0.91088574604878	0.10586	0.5065998	-0.77241015204976	0.15173	0.7966433	3.86584058060519E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	-2.78	0.05512	0.533000	0.22791	-0.028000	0.12833	0.756000	0.94297	0.976000	0.34826	0.000000	0.08366	0.791000	0.37352	0.5505:0.0:0.4495:0.0	12.366	0.54554	562	0.71143	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1710.33	33	chr5	128990397	.	A	G	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.537;DP=802;ExcessHet=0;FS=5.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.307;SOR=1.06	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	129033106	129033106	-	A	exonic	SLC27A6	.	frameshift insertion	SLC27A6:NM_001017372:exon10:c.1685dupA:p.M564Nfs*20,SLC27A6:NM_001317984:exon11:c.1685dupA:p.M564Nfs*20,SLC27A6:NM_014031:exon11:c.1685dupA:p.M564Nfs*20	.	459	1062	1	0	0	1	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.12e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs747096674	2.276e-05	2.326e-05	1.92e-05	2.635e-05	0.0003	1.623e-05	1.428e-05	0.0002	0.0002	0	0	0	2.551e-05	0	0	1.808e-06	1.672e-05	0.0003	6.591e-06	6.57e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	359.29	30	chr5	129033106	.	G	GA	359.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=605;ExcessHet=0;FS=7.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.218;SOR=0.086	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,992	18	0	1	0
chr5	129461200	129461200	G	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G190A:p.A64T	.	433	996	89	4	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00798722	0.0423	0	0	0	.	0.0098	0	0.0556	0.0023738	367	154602	rs149861653	0.0092	0.0086	0.0086	0.0098	0.0419	0.0090	0.0090	0.0401	0.0394	0.0019	0.0113	0.0262	3.704e-05	0.0008	0.0326	0.0081	0.0115	0.0419	0.0070	0.0070	0.0071	0.0069	0.0318	0.0067	0.0065	0.0277	0.0261	0.0024	0.0077	0.0077	0.0274	0.0008	0.0002	0.0171	0.0083	0.0090	0.0318	.	.	.	.	.	.	0.203	0.29776	B	0.012	0.16012	B	0.356684	0.13733	N	0.540328	0.999988	0.18198	N	0.345	0.11182	N	.	.	.	.	.	.	.	.	-1.0592	0.11956	T	0.042	0.18118	T	9	0.0025759041	0.00039	T	.	.	.	0.042	0.11227	.	.	.	.	0.14575235333896494	0.14498	1.40670516952	0.85333	0.89497846365	0.95864	D	0.004443	0.03847	T	-0.524688	0.00413	T	-0.462224	0.26357	T	0.00914668875011865	0.00115	T	0.557244	0.19380	T	0.06468684	0.13749	0.10315857	0.24744	0.06468684	0.13749	0.10315857	0.24744	-5.653	0.43273	T	.	.	0.088	0.11797	B	.;.	.;.	2.266258	0.28962	17.97	0.98187687496377318	0.39001	0.41712	0.26718	N	AEFDBHCI	0.075369	0.15133	N	-0.911132831483757	0.10581	0.5062969	-0.901174283232643	0.12066	0.6185421	0.999999553852746	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	3.49	-2.57	0.05885	0.749000	0.25985	3.328000	0.37603	0.498000	0.22619	0.997000	0.40164	1.000000	0.68203	0.829000	0.39076	0.0:0.3642:0.2657:0.3701	8.352	0.31471	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018883	0.023438	0.012887	0.028455	0.000000	0.000000	0.019048	0.027027	0.02632	306.33	15	chr5	129461200	.	G	A	306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.259;DP=475;ExcessHet=0;FS=1.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.957;SOR=0.346	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	18	0	1	0
chr5	129461465	129461465	C	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.C455A:p.P152Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.289397826331	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs971813871	4.962e-05	4.927e-05	4.513e-05	5.425e-05	0.0002	3.989e-05	3.635e-05	5.761e-05	3.612e-05	3.814e-05	0.0002	0.0002	0	0	0	5.149e-05	1.84e-05	0	1.973e-05	1.971e-05	1.286e-05	2.693e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.942e-05	0	0	0.018	0.50676	D	.	.	.	0.005	0.12996	B	0.01	0.14941	B	0.855826	0.07086	N	1.094290	1	0.08975	N	1.1	0.28011	L	-0.04	0.63240	T	-1.06	0.27669	N	.	.	-1.0246	0.22214	T	0.108	0.39295	T	9	0.11099854	0.20767	T	0.289398	0.90510	D	0.051	0.14325	.	.	0.314436011497	0.31061	0.36929192342875183	0.36843	2.58226240517	0.98069	0.808486104012	0.83260	D	0.007236	0.06655	T	-0.152222	0.27964	T	-0.456433	0.26988	T	0.0881401149458989	0.10995	T	0.423058	0.11286	T	0.09813141	0.23142	0.10861399	0.26165	0.09813141	0.23142	0.10861399	0.26165	-5.475	0.41633	T	.	.	0.084	0.09578	B	.;.	.;.	2.534043	0.32768	19.14	0.85316528903930511	0.15817	0.32333	0.24559	N	AEFDBHCI	0.067033	0.13156	N	-1.06542100692859	0.07289	0.3381236	-1.04814091207931	0.08746	0.4315069	0.999999891637578	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	2.64	0.677	0.17130	1.210000	0.31975	2.491000	0.32984	0.445000	0.21165	0.502000	0.26971	0.967000	0.29559	0.979000	0.57723	0.3941:0.6059:0.0:0.0	9.120	0.35945	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	36	chr5	129461465	.	C	A	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.492;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr5	129461656	129461656	C	T	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.C646T:p.P216S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0334023264539	.	.	9.19e-06	0	0	0	0	1.673e-05	0	0	1.29e-05	2	154602	rs763007280	1.393e-06	6.84e-06	0	2.802e-06	2.321e-05	2.3e-07	9e-08	.	.	0	2.321e-05	0	0	0	0	9.05e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.03492	T	.	.	.	0.224	0.30397	B	0.046	0.24676	B	0.311834	0.14420	N	0.580917	1	0.08975	N	-0.145	0.04423	N	-0.0	0.62608	T	-0.1	0.08495	N	.	.	-0.9244	0.44943	T	0.007	0.02244	T	9	0.07457554	0.11415	T	0.033402	0.54952	D	0.031	0.07369	0.405	0.43738	0.043077524339	0.03247	0.4743405829658969	0.47353	0.172407162635	0.19416	0.731431126595	0.71715	T	0.004387	0.03798	T	-0.287127	0.09926	T	-0.650214	0.08939	T	0.0931199967473194	0.11583	T	0.423358	0.11306	T	0.058435384	0.11757	0.10559141	0.25386	0.058435384	0.11756	0.10559141	0.25385	-4.343	0.28775	T	.	.	0.073	0.04806	B	.;.	.;.	1.007137	0.13862	10.41	0.93819234260774254	0.23799	0.09674	0.15377	N	AEFDBHCIJ	0.064205	0.12455	N	-0.826878538623985	0.12626	0.6166281	-0.780860544438398	0.14965	0.7846615	0.999999999971971	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	3.46	3.46	0.38718	1.295000	0.32983	0.937000	0.22823	0.549000	0.26987	0.004000	0.16614	0.012000	0.20211	0.672000	0.33309	0.1742:0.6557:0.17:0.0	8.145	0.30269	721	0.55360	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	611.33	40	chr5	129461656	.	C	T	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.84;SOR=0.649	GT:AD:DP:GQ:PL	0/1:30,23:53:99:625,0,831	18	0	1	0
chr5	131182237	131182237	A	C	exonic	LYRM7	.	nonsynonymous SNV	LYRM7:NM_001293735:exon3:c.A100C:p.I34L,LYRM7:NM_181705:exon3:c.A100C:p.I34L	Mitochondrial complex III deficiency, nuclear type 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1183547	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	0.0110093019464	0.0004	0.000399361	0.0005	0.0005	0.0007	0	0	0.0008	0	0.0004	0.0002846	44	154602	rs200336982	0.0003	0.0003	0.0003	0.0004	0.0015	0.0003	0.0003	0.0008	0.0007	0.0012	0.0006	0.0034	0	0	0.0015	0.0002	0.0009	0.0004	0.0005	0.0005	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0	0.0004	0.0037	0	0	0.0034	0.0004	0.0009	0.0002	0.473	0.08408	T	1.0	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	0.142452	0.18243	N	0.563855	1	0.81001	D	0.68	0.16426	N	-0.32	0.68181	T	0.33	0.04022	N	0.299	0.38129	-1.0169	0.24722	T	0.069	0.28247	T	10	0.0120663345	0.00261	T	0.011009	0.28187	T	0.087	0.25287	0.208	0.12497	0.203808441222	0.19973	0.24174664034269164	0.24088	0.0402750302051	0.04312	0.486894279718	0.37008	T	0.009047	0.08263	T	-0.357062	0.04298	T	-0.381921	0.35498	T	0.0017659334698692	0.00018	T	0.818618	0.59262	T	0.08996316	0.21035	0.05216971	0.08543	0.105662055	0.24982	0.057594758	0.10497	-4.02	0.24102	T	0.053793091651684936	0.01108	0.069	0.08033	B	.;.	.;.	1.196764	0.15883	12.17	0.89642866227950757	0.18973	0.57048	0.30275	D	AEFBI	0.136531	0.25723	N	-0.671611996690606	0.16833	0.8611353	-0.440697821983644	0.23813	1.300631	0.815200107054814	0.24426	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	4.67	2.33	0.27981	0.864000	0.27581	1.228000	0.25023	0.756000	0.94297	0.998000	0.41325	0.998000	0.33993	0.998000	0.85391	0.7863:0.0:0.2137:0.0	5.784	0.17585	166	0.93555	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003030	0.015306	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	518.33	36	chr5	131182237	.	A	C	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.876;DP=670;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=1.22;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	18	0	1	0
chr5	131430915	131430915	T	A	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_016340:exon26:c.A4409T:p.D1470V,RAPGEF6:NM_001164386:exon27:c.A4433T:p.D1478V,RAPGEF6:NM_001164388:exon27:c.A4433T:p.D1478V,RAPGEF6:NM_001164387:exon28:c.A4448T:p.D1483V	.	433	1086	3	0	0	3	0.00137931	.	.	.	3905450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00744047134161	0.0004	.	9.175e-05	0.0003	0	0	0	0	0.0011	0.0005	7.12e-05	11	154602	rs150826816	2.19e-05	2.189e-05	1.09e-05	3.302e-05	0.0003	1.585e-05	1.357e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	4.973e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.092e-05	5.748e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	0.038	0.44358	D	0.271	0.32783	T	0.009	0.15093	B	0.017	0.24676	B	0.018202	0.27535	N	0.420432	0.726975	0.43752	D	0.69	0.16971	N	1.89	0.23688	T	-0.8	0.22078	N	0.227	0.36569	-1.0772	0.07901	T	0.052	0.21999	T	10	0.047703266	0.04123	T	0.00744	0.19739	T	0.027	0.05988	.	.	0.189391138174	0.18552	0.3406859732346725	0.33981	0.249926352338	0.27571	0.339904546738	0.16424	T	0.144203	0.48070	T	-0.368051	0.03694	T	-0.455938	0.27042	T	0.055423292447777	0.06428	T	0.89861	0.65631	D	0.13407764	0.31165	0.074578516	0.16329	0.13407764	0.31164	0.074578516	0.16329	-3.227	0.14074	T	.	.	0.072	0.11606	B	.;.;.;.;.	.;.;.;.;.	3.667312	0.52131	23.2	0.95979092879621164	0.28351	0.91512	0.53686	D	AEFDGBIJ	0.254658	0.37393	N	-0.133328776451992	0.35945	2.071312	0.00511071881310982	0.39952	2.376702	0.999953961747294	0.48110	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.0	3.79	0.42757	3.797000	0.55219	2.027000	0.30236	0.665000	0.62972	0.993000	0.37899	0.854000	0.27420	0.954000	0.50415	0.0:0.0:0.2514:0.7486	11.107	0.47429	392	0.83172	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1119.33	33	chr5	131430915	.	T	A	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.626;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,107,1424	18	0	1	0
chr5	131671533	131671533	C	A	exonic	FNIP1	.	nonsynonymous SNV	FNIP1:NM_001008738:exon13:c.G2827T:p.A943S,FNIP1:NM_001346114:exon13:c.G2776T:p.A926S,FNIP1:NM_133372:exon14:c.G2911T:p.A971S	.	430	1086	6	0	0	6	0.00275482	.	.	.	2102639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0007	0.00259585	0.0011	0.0006	0.0003	0	0	0.0005	0	0.0060	0.0010479	162	154602	rs139117851	0.0007	0.0007	0.0005	0.0009	0.0051	0.0006	0.0006	0.0047	0.0045	0.0013	0.0006	0.0039	0	0	0.0014	0.0003	0.0013	0.0051	0.0007	0.0007	0.0006	0.0009	0.0062	0.0006	0.0006	0.0045	0.0039	0.0008	0	0.0005	0.0035	0	0	0.0034	0.0004	0	0.0062	0.822	0.03431	T	0.825	0.03772	T	0.001	0.11197	B	0.011	0.15521	B	.	.	.	.	1	0.81001	D	1.79	0.46772	L	2.79	0.11298	T	0.19	0.04947	N	0.216	0.30687	-0.9482	0.41279	T	0.012	0.04416	T	9	0.0056043863	0.00124	T	.	.	.	0.048	0.13305	.	.	0.043077524339	0.03247	0.17039910358277424	0.16959	0.0968877573739	0.10942	.	.	.	0.001676	0.05421	T	-0.583277	0.00184	T	-0.609247	0.12047	T	0.00231501126758295	0.00024	T	0.816718	0.47282	T	0.04784784	0.08244	0.04563088	0.06183	0.04784784	0.08244	0.04563088	0.06182	-2.338	0.04767	T	.	.	0.091	0.13032	B	.;.;.;.	.;.;.;.	1.357708	0.17661	13.30	0.738963869244742	0.10495	0.54749	0.29692	D	AEFDGBHCI	0.182230	0.30956	N	-0.700987876435802	0.15994	0.8110018	-0.494989696483456	0.22291	1.210021	0.999999124703874	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.81	1.01	0.19044	0.386000	0.20429	0.130000	0.15034	0.549000	0.26987	0.998000	0.41325	0.933000	0.28592	0.996000	0.76049	0.0:0.5892:0.0:0.4108	9.245	0.36679	375	0.84013	.;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1208.33	133	chr5	131671533	.	C	A	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.496;DP=767;ExcessHet=0;FS=3.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-1.281;SOR=0.427	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1271	18	0	1	0
chr5	132060983	132060983	A	G	exonic	IL3	.	nonsynonymous SNV	IL3:NM_000588:exon2:c.A179G:p.N60S	.	423	1097	2	0	0	2	0.000910747	.	.	.	721204	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.00321655318147	0.0024	0.00139776	0.0016	0.0007	0.0020	0.0001	0.0003	0.0024	0	0.0004	0.0018046	279	154602	rs35482671	0.0030	0.0030	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0036	0.0004	0.0017	0	7.557e-05	0.0004	0.0003	0.0037	0.0024	0.0002	0.0019	0.0019	0.0021	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0.0099	0.0020	0	0.0002	0.0003	0	0.0030	0.0019	0	0.025	0.47320	D	0.2	0.27591	T	0.048	0.22112	B	0.02	0.19048	B	0.091467	0.02458	N	1.876830	1	0.08975	N	1.12	0.28775	L	1.17	0.37910	T	-2.37	0.52289	N	0.033	0.00882	-1.0143	0.25561	T	0.052	0.22076	T	10	0.0047552586	0.00100	T	0.003217	0.07087	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.393057286153806	0.39220	0.231925049726	0.25743	0.341308027506	0.16634	T	0.377035	0.74030	T	-0.704709	0.00034	T	-0.783814	0.02340	T	0.00306632782290677	0.00032	T	0.515548	0.16619	T	0.10750515	0.25421	0.07588456	0.16751	0.10750515	0.25421	0.07588456	0.16750	-2.412	0.05207	T	.	.	0.116	0.23465	B	.	.	-0.215050	0.03016	0.458	0.81282739265759785	0.13608	0.00824	0.03324	N	AEFDBI	0.027697	0.02309	N	-1.1803349315642	0.05297	0.2411685	-1.3444280558171	0.03872	0.1815019	0.972465339825108	0.29373	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	-5.79	0.02162	-1.237000	0.03032	-3.255000	0.02931	-0.429000	0.05206	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2515:0.425:0.1848:0.1388	2.060	0.03371	386	0.83455	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002018	0.005051	0.001359	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1275.33	33	chr5	132060983	.	A	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.414;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1109	18	0	1	0
chr5	132588018	132588018	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon7:c.G980A:p.R327H	Nijmegen breakage syndrome-like disorder	0	1478	40	4	0	48	0.0159787	.	.	.	45934	not_specified|not_provided|RAD50-related_disorder|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.00635168319595	0.0024	0.00299521	0.0035	0.0007	0.0017	0.0003	0.0005	0.0039	0.0056	0.0079	0.0032794	507	154602	rs28903091	0.0026	0.0026	0.0023	0.0029	0.0080	0.0025	0.0025	0.0075	0.0073	0.0003	0.0017	0.0156	0.0001	0.0007	0.0078	0.0021	0.0038	0.0080	0.0022	0.0022	0.0023	0.0022	0.0068	0.0020	0.0020	0.0050	0.0044	0.0003	0	0.0010	0.0164	0	0.0006	0.0170	0.0030	0.0033	0.0068	0.063	0.36709	T	0.022	0.57587	D	0.994	0.66517	D	0.742	0.55764	P	0.000000	0.84330	D	0.049899	0.999994	0.58761	D	2.135	0.59519	M	3.06	0.08634	T	-2.47	0.53898	N	0.233	0.26233	-1.1840	0.00314	T	0.054	0.23034	T	10	0.0049374104	0.00106	T	0.006352	0.16696	T	0.206	0.49396	.	.	0.70759724671	0.70505	0.16685029423054523	0.16605	.	.	0.408416152	0.26237	T	0.276572	0.64916	T	-0.435264	0.01379	T	-0.393016	0.34198	T	0.0320217662024938	0.02310	T	0.907909	0.67446	D	0.27434513	0.50500	0.18635133	0.41803	0.27434513	0.50500	0.18635133	0.41802	-4.033	0.24296	T	0.5587478134398542	0.62667	0.104	0.19032	B	.;.;.;.;.	.;.;.;.;.	4.437000	0.68853	25.3	0.99926647966361482	0.99103	0.95974	0.66966	D	AEFBI	0.704112	0.65993	D	0.690279706738146	0.78997	6.985285	0.692445739575504	0.81805	7.613241	0.999999063309146	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	6.215000	0.72150	8.558000	0.77555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.799	0.88492	831	0.39019	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1049.33	33	chr5	132588018	.	G	A	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.622;DP=696;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.479;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1063,0,978	18	0	1	0
chr5	132589696	132589697	TG	-	exonic	RAD50	.	frameshift deletion	RAD50:NM_005732:exon9:c.1311_1312del:p.G438Tfs*6	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	830111	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463759914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1278.29	33	chr5	132589695	.	CTG	C	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=697;ExcessHet=0;FS=4.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-1.221;SOR=1.189	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	18	0	1	0
chr5	132591962	132591962	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon11:c.A1721G:p.K574R	Nijmegen breakage syndrome-like disorder	0	1521	1	0	0	1	0.000328623	.	.	YES	474196	Hereditary_cancer-predisposing_syndrome|Nijmegen_breakage_syndrome-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00524746421953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386858430	2.054e-06	2.052e-06	4.088e-06	0	2.701e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.293	0.34095	T	0.319	0.19188	T	0.009	0.15093	B	0.007	0.12992	B	0.000005	0.62929	N	0.142745	0.990663	0.41208	D	0.805	0.20218	L	0.67	0.52187	T	-1.21	0.30762	N	0.291	0.32921	-1.0088	0.27292	T	0.019	0.07846	T	10	0.11759701	0.22213	T	0.005247	0.13402	T	0.061	0.17616	0.384	0.40298	0.656495786005	0.65362	0.15709509998225465	0.15630	.	.	0.531445086002	0.43238	T	0.113737	0.43101	T	-0.152405	0.27935	T	-0.456695	0.26959	T	0.580214619636536	0.35627	D	0.836316	0.52922	T	0.075641915	0.17055	0.10422045	0.25025	0.075641915	0.17054	0.10422045	0.25024	-3.477	0.16111	T	0.2798823583448002	0.37499	0.076	0.12371	B	.;.;.;.;.	.;.;.;.;.	2.309985	0.29567	18.16	0.99596893667955566	0.73983	0.78745	0.38897	D	AEBI	0.167421	0.29409	N	-0.212458707254212	0.32623	1.841739	-0.0183841812769987	0.38885	2.297425	0.711768953900814	0.22828	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	4.9	0.63643	2.687000	0.46643	7.045000	0.57350	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8637:0.0:0.1363:0.0	9.884	0.40422	831	0.39019	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2227.33	33	chr5	132591962	.	A	G	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=787;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.618;SOR=0.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr5	132659458	132659458	T	C	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon2:c.T215C:p.L72P,IL13:NM_001354991:exon3:c.T20C:p.L7P,IL13:NM_001354993:exon3:c.T20C:p.L7P,IL13:NM_001354992:exon4:c.T20C:p.L7P	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0452577720902	0.0003	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs148077750	8.085e-05	8.277e-05	8.043e-05	8.127e-05	0.0014	6.878e-05	6.43e-05	0.0007	0.0005	8.967e-05	0.0001	0	5.04e-05	0	0.0014	7.113e-05	0.0002	5.83e-05	8.542e-05	8.537e-05	7.71e-05	9.414e-05	0.0002	4.957e-05	3.963e-05	9.047e-05	7.012e-05	2.413e-05	0	6.544e-05	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	0.068646	0.21658	N	0.325754	0.999994	0.58761	D	.	.	.	0.2	0.60111	T	-5.95	0.89152	D	0.861	0.87049	-0.4733	0.69609	T	0.281	0.65320	T	10	0.8581712	0.85024	D	0.045258	0.61892	D	0.488	0.77592	.	.	0.842607017711	0.84110	0.6356794888676748	0.63501	0.708055894707	0.61527	0.369572281837	0.20770	T	.	.	.	0.0985846	0.64139	D	0.140502	0.79576	D	0.302077442407608	0.25090	T	0.665033	0.27384	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.64839	A	.;.	.;.	3.402644	0.47165	22.4	0.9985633309997265	0.93548	0.27357	0.23254	N	AEFDBI	0.204955	0.33135	N	0.226461193020081	0.52485	3.422312	0.102898298090287	0.44696	2.746418	0.99999513591921	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.88	3.88	0.43959	1.018000	0.29604	2.078000	0.30479	0.665000	0.62972	0.382000	0.26022	0.999000	0.35428	0.476000	0.28476	0.0:0.0:0.0:1.0	9.373	0.37426	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1143.33	34	chr5	132659458	.	T	C	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=719;ExcessHet=0;FS=5.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.477;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	18	0	1	0
chr5	132660267	132660267	G	T	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon4:c.G426T:p.E142D,IL13:NM_001354991:exon5:c.G231T:p.E77D,IL13:NM_001354993:exon5:c.G231T:p.E77D,IL13:NM_001354992:exon6:c.G231T:p.E77D	.	423	1096	2	1	0	4	0.00182149	.	.	.	3274824	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00141498857204	.	.	7.421e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs200247901	5.61e-05	5.678e-05	3.267e-05	7.976e-05	0.0006	4.61e-05	4.237e-05	0.0005	0.0004	0	2.237e-05	0	0	0	0.0003	1.079e-05	0.0002	0.0006	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.263	0.16412	T	0.375	0.16231	T	.	.	.	.	.	.	0.012853	0.01347	N	2.726190	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.66	0.19085	N	0.046	0.01825	-1.0474	0.15130	T	0.044	0.18989	T	10	0.018843383	0.00414	T	0.001415	0.02088	T	0.018	0.03083	0.156	0.05964	0.0846915920261	0.08053	0.091215448853235	0.09054	0.122369866137	0.13789	0.326947391033	0.14472	T	.	.	.	-0.549821	0.00292	T	-0.699596	0.05848	T	0.10210024667692	0.12587	T	0.291871	0.05342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.;.	.;.	-2.629487	0.00023	0.001	0.8178646808605653	0.13859	0.01197	0.04272	N	AEFGBCI	0.021014	0.00891	N	-1.86363704774965	0.00407	0.01751439	-1.94980623946328	0.00389	0.01719712	0.999999986970048	0.74766	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	-8.72	0.00731	-3.377000	0.00546	-20.000000	0.00162	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6277:0.2182:0.1541	10.314	0.42907	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1514.33	72	chr5	132660267	.	G	T	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=1044;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.59;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr5	132677862	132677862	C	T	exonic	IL4	.	nonsynonymous SNV	IL4:NM_001354990:exon3:c.C265T:p.R89C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014591712	0	1.908e-05	0	0	.	0	0	.	.	0	.	.	.	0	.	0	0	.	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	6.536e-05	0	0	0	0	0.0001	0	0	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.08486408	0.14268	T	.	.	.	.	.	.	.	0.388495093706	0.38465	.	.	.	.	.	.	.	.	.	.	-0.740288	0.00021	T	-0.903625	0.00478	T	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30868	B	.	.	-0.050830	0.03944	0.880	0.57967514866388758	0.05887	0.03671	0.08935	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999973760922619	0.50053	0.074388	0.01536	0	0.060609	0.00678	0	0.078125	0.02361	0	0.074188	0.01825	0	0.0510216	0.10089	3.12	-4.01	0.03775	-1.241000	0.03021	-1.292000	0.05797	-3.187000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2668:0.0:0.7332	10.153	0.41982	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1894.33	33	chr5	132677862	.	C	T	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=743;ExcessHet=0;FS=2.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.989;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	18	0	1	0
chr5	132813875	132813875	C	A	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.C254A:p.P85H	.	384	1133	5	0	0	5	0.00220167	.	.	.	2353480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.0935680633703	.	0.000199681	0.0005	0.0007	0	0	0	0.0010	0	0.0001	0.0001294	20	154602	rs532960429	0.0005	0.0005	0.0005	0.0005	0.0050	0.0005	0.0004	0.0035	0.0031	0.0002	0.0006	0.0007	2.807e-05	0	0.0050	0.0005	0.0003	0.0002	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	9.628e-05	0	0.0008	0.0003	0	0	0.0034	0.0005	0.0009	0	0.371	0.11514	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	0.994169	0.23574	N	.	.	.	1.18	0.37746	T	-1.04	0.27259	N	0.15	0.15328	-1.0209	0.23421	T	0.053	0.22307	T	9	0.012470573	0.00268	T	0.093568	0.76096	D	0.010	0.01040	.	.	0.130388298395	0.12655	0.1720411341901102	0.17124	.	.	0.578879356384	0.49928	T	.	.	.	-0.455737	0.01044	T	-0.483759	0.24047	T	0.00670660179221519	0.00075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.16010	B	.	.	1.646549	0.21009	15.01	0.93268615204663496	0.22967	0.13763	0.18038	N	AEFDBHCI	0.106442	0.21238	N	-1.00372417042158	0.08526	0.4000927	-0.986397930009115	0.10091	0.5060292	0.995549242077923	0.34186	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.53	2.67	0.30756	1.007000	0.29462	-0.579000	0.08386	0.437000	0.21030	0.002000	0.15269	0.000000	0.08366	0.008000	0.08271	0.1598:0.5303:0.3099:0.0	8.753	0.33788	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005426	0.000000	0.004878	0.007576	0.000000	0.000000	0.012821	0.000000	0.02632	953.33	34	chr5	132813875	.	C	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=738;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.047;SOR=1.017	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	18	0	1	0
chr5	132814318	132814318	C	T	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.C697T:p.R233W	.	457	1042	23	0	0	23	0.010916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	0.00399361	0.0119	0.0078	0	0	0	0.0044	0	0.0149	0.001533	237	154602	rs541082078	0.0069	0.0065	0.0067	0.0071	0.0106	0.0068	0.0067	0.0099	0.0097	0.0009	0.0019	4.416e-05	3.226e-05	0.0038	0.0064	0.0075	0.0051	0.0106	0.0043	0.0043	0.0045	0.0042	0.0083	0.0041	0.0040	0.0067	0.0065	0.0011	0.0011	0.0023	0	0	0.0039	0.0034	0.0072	0.0024	0.0083	0.002	0.72154	D	0.017	0.60337	D	.	.	.	.	.	.	0.977252	0.07817	N	1.011420	0.993217	0.23752	N	.	.	.	2.02	0.21119	T	-2.05	0.47008	N	0.146	0.14763	-1.0020	0.29342	T	0.081	0.32090	T	10	0.006210804	0.00140	T	.	.	.	0.118	0.32913	.	.	0.399304321381	0.39546	0.4862060505353448	0.48540	.	.	0.910517334938	0.97519	D	.	.	.	-0.40875	0.02026	T	-0.348887	0.39332	T	0.0455807386713733	0.04708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.35267	B	.	.	3.705155	0.52863	23.3	0.99864212880696357	0.94276	0.31206	0.24279	N	AEFDBCI	0.475342	0.51922	N	0.00581537725403718	0.42119	2.531832	-0.0888221248477869	0.35850	2.079105	0.999502257936227	0.40062	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.88	3.88	0.43959	0.606000	0.23891	3.745000	0.39664	0.442000	0.21104	0.017000	0.19353	0.999000	0.35428	0.024000	0.12247	0.198:0.802:0.0:0.0	10.258	0.42586	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005376	0.000000	0.000000	0.006667	0.050000	0.000000	0.000000	0.025862	0.02632	672.33	25	chr5	132814318	.	C	T	672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.989;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.882;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:54:.:.:0,54,810:.	18	0	1	0
chr5	132814474	132814474	G	C	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.G853C:p.G285R	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.103854082577	.	.	0.0001	0	0	0	.	0.0006	0	0	6.5e-06	1	154602	rs770191684	1.316e-05	1.231e-05	4.579e-06	2.2e-05	0.0005	8.02e-06	6.56e-06	9.985e-05	7.824e-05	0	0	0	0	0	0.0005	0	5.635e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.077	0.42436	T	.	.	.	.	.	.	0.782626	0.09459	N	0.893281	0.999941	0.19238	N	.	.	.	2.15	0.19311	T	-4.09	0.74821	D	0.483	0.51761	-1.0044	0.28636	T	0.036	0.15596	T	10	0.1383349	0.26309	T	0.103854	0.77812	D	0.039	0.10176	0.342	0.33464	0.357313475932	0.35345	0.5230898246294565	0.52232	.	.	0.89601701498	0.95986	D	.	.	.	-0.350901	0.04670	T	-0.451679	0.27511	T	0.490314245223999	0.32276	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.61398	A	.	.	3.916111	0.57146	23.8	0.99803990974119361	0.88817	0.21026	0.21254	N	AEFDBCI	0.221208	0.34586	N	-0.643209901705143	0.17659	0.9105368	-0.571794347075429	0.20230	1.088958	0.998652492733124	0.37392	0.623204	0.39778	0	0.475579	0.06741	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	4.2	3.32	0.37134	1.662000	0.37035	6.800000	0.56625	0.497000	0.22564	0.869000	0.30776	1.000000	0.68203	0.877000	0.41881	0.3066:0.0:0.6934:0.0	6.309	0.20360	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	432.33	45	chr5	132814474	.	G	C	432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.276;DP=746;ExcessHet=0;FS=7.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.45;ReadPosRankSum=1.18;SOR=0.191	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1048	18	0	1	0
chr5	132823884	132823884	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.G1777A:p.A593T,SHROOM1:NM_001172700:exon7:c.G1777A:p.A593T	.	421	1095	6	0	0	6	0.00273224	.	.	.	698775	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0101636520806	0.0051	0.00339457	0.0058	0.0013	0.0012	0	0.0098	0.0084	0.0039	0.0007	0.0052005	804	154602	rs144919403	0.0069	0.0068	0.0071	0.0068	0.0080	0.0068	0.0068	0.0078	0.0078	0.0011	0.0017	0.0011	0	0.0103	0.0004	0.0080	0.0058	0.0012	0.0049	0.0050	0.0051	0.0048	0.0079	0.0047	0.0045	0.0073	0.0071	0.0014	0.0022	0.0023	0.0006	0	0.0101	0	0.0079	0.0024	0.0025	0.28	0.15509	T	0.065	0.47097	T	0.229	0.30546	B	0.153	0.34292	B	0.832774	0.09093	N	0.912724	0.996853	0.22879	N	1.33	0.33268	L	1.49	0.31470	T	0.11	0.08495	N	0.125	0.19325	-0.9799	0.35025	T	0.046	0.19640	T	10	0.0046468377	0.00097	T	0.010164	0.26368	T	0.040	0.10527	.	.	0.328486982098	0.32448	0.20545923466704794	0.20462	0.0323555157115	0.03379	0.358799874783	0.19210	T	0.014986	0.12654	T	-0.614697	0.00119	T	-0.648355	0.09069	T	0.0120771322648374	0.00191	T	0.612239	0.23293	T	0.03552469	0.04196	0.04293744	0.05227	0.03552469	0.04196	0.04293744	0.05227	-4.957	0.36370	T	.	.	0.084	0.14979	B	.;.;.;.	.;.;.;.	1.343556	0.17504	13.20	0.99133206960837394	0.53329	0.21053	0.21264	N	AEFDBCI	0.097129	0.19596	N	-0.620076997169917	0.18342	0.951481	-0.612563704858537	0.19170	1.027357	0.999945822850924	0.47345	0.646311	0.45356	0	0.627178	0.54094	0	0.619478	0.44681	0	0.699875	0.68795	0	.	.	4.89	0.873	0.18254	0.175000	0.16577	-0.751000	0.07577	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.890000	0.42831	0.1587:0.5713:0.0:0.27	4.283	0.10288	908	0.22609	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2;.;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2020.33	113	chr5	132823884	.	C	T	2020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.27;DP=1297;ExcessHet=0;FS=2.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.468;SOR=0.811	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1234	18	0	1	0
chr5	132824342	132824342	G	A	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.C1319T:p.P440L,SHROOM1:NM_001172700:exon7:c.C1319T:p.P440L	.	424	1093	5	0	0	5	0.00228206	.	.	.	2349129	SHROOM1-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.0169465468172	0.0006	0.000199681	0.0005	0.0004	0.0007	0.0006	0	0.0006	0	0.0002	0.0004657	72	154602	rs150299882	0.0006	0.0006	0.0006	0.0005	0.0052	0.0005	0.0005	0.0038	0.0033	0.0001	0.0008	0.0007	0.0002	0	0.0052	0.0006	0.0003	0.0002	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0003	0	0	0.0034	0.0006	0.0009	0	0.021	0.49117	D	0.069	0.43913	T	0.029	0.22227	B	0.01	0.19966	B	0.938521	0.08370	N	0.971042	1	0.08975	N	1.495	0.37439	L	1.58	0.29085	T	-2.17	0.53096	N	0.156	0.16308	-1.0171	0.24657	T	0.048	0.20395	T	10	0.019893974	0.00450	T	0.016947	0.38442	T	0.009	0.00846	.	.	0.396494342077	0.39262	0.11409409466919676	0.11337	0.0140498630895	0.01340	0.259575933218	0.04840	T	0.049948	0.28454	T	-0.552188	0.00283	T	-0.64007	0.09664	T	0.0166302090854613	0.00423	T	0.677732	0.28664	T	0.04742891	0.08104	0.046085276	0.06345	0.04742891	0.08104	0.046085276	0.06345	-3.675	0.18994	T	.	.	0.074	0.14477	B	.;.;.;.	.;.;.;.	0.703158	0.10717	7.411	0.85305018353693829	0.15810	0.07410	0.13430	N	AEFDBCI	0.082283	0.16659	N	-1.05466746613157	0.07496	0.3484223	-1.06551847650336	0.08386	0.4121341	0.999975903160536	0.50053	0.676563	0.55306	0	0.659912	0.62753	0	0.673471	0.61138	0	0.636168	0.56350	0	.	.	4.11	2.34	0.28071	0.418000	0.20950	1.040000	0.23550	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.215:0.0:0.785:0.0	6.561	0.21682	908	0.22609	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1092.33	113	chr5	132824342	.	G	A	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=1191;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.684;SOR=1.038	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1234	18	0	1	0
chr5	132824796	132824796	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon3:c.G1060A:p.V354M,SHROOM1:NM_001172700:exon6:c.G1060A:p.V354M	.	409	1111	1	1	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00359425	0.0026	0	8.657e-05	0	0	0	0	0.0188	0.0022121	342	154602	rs550046729	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0175	0.0172	2.987e-05	4.472e-05	0	2.519e-05	0	0.0010	3.597e-06	0.0014	0.0182	0.0006	0.0006	0.0004	0.0008	0.0180	0.0005	0.0005	0.0150	0.0139	2.407e-05	0	0	0	0	0	0.0034	0	0.0005	0.0180	0.04	0.42199	D	0.084	0.41239	T	0.131	0.29860	B	0.039	0.29395	B	0.003968	0.00996	N	2.755150	1	0.08975	N	0.975	0.24501	L	1.84	0.24656	T	-0.21	0.10480	N	0.112	0.09914	-1.0362	0.18481	T	0.042	0.17910	T	10	0.0029231608	0.00047	T	.	.	.	0.015	0.02232	0.202	0.11659	0.246215685461	0.24236	0.10321011626801771	0.10251	0.0292523550471	0.03013	0.314012169838	0.12513	T	0.030936	0.21808	T	-0.676859	0.00050	T	-0.729442	0.04352	T	0.0248634875007676	0.01254	T	0.625537	0.24174	T	0.022781417	0.00965	0.032667197	0.02038	0.022781417	0.00965	0.032667197	0.02038	-5.075	0.37643	T	.	.	0.106	0.21987	B	.;.;.	.;.;.	0.926714	0.13016	9.523	0.99354477290236642	0.60738	0.06744	0.12766	N	AEFDBCI	0.080458	0.16267	N	-0.973859914062261	0.09164	0.4326207	-1.0418418270298	0.08877	0.4387043	0.999940614301394	0.47345	0.718356	0.82227	0	0.570548	0.20475	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	3.93	0.095	0.13794	-0.366000	0.07616	0.050000	0.13987	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4951:0.1859:0.319	3.733	0.08029	909	0.22467	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	700.33	34	chr5	132824796	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=677;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.405;SOR=0.321	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	18	0	1	0
chr5	132825563	132825563	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.G578A:p.G193D,SHROOM1:NM_001172700:exon4:c.G578A:p.G193D	.	424	1059	39	0	0	39	0.0180807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0060	0.00579073	0.0272	0.0088	0.0044	0	0.0595	0.0289	0.0556	0.0532	0.0051228	792	154602	rs201403774	0.0104	0.0098	0.0101	0.0107	0.0243	0.0102	0.0102	0.0233	0.0228	0.0010	0.0028	0.0032	0	0.0120	0.0071	0.0104	0.0094	0.0243	0.0070	0.0070	0.0068	0.0073	0.0248	0.0067	0.0065	0.0212	0.0199	0.0016	0.0164	0.0021	0.0029	0	0.0089	0.0034	0.0105	0.0066	0.0248	0.506	0.20912	T	0.191	0.28958	T	0.0	0.02946	B	0.001	0.04355	B	0.000246	0.00537	N	8.027000	1	0.08975	N	1.63	0.41750	L	1.01	0.41058	T	-1.05	0.34795	N	0.059	0.03956	-1.0255	0.21919	T	0.044	0.18783	T	10	0.0028704703	0.00046	T	.	.	.	0.016	0.02506	.	.	.	.	0.10352723564963877	0.10282	1.65912826013	0.89650	0.840236067772	0.88130	D	0.014544	0.12362	T	-0.678957	0.00049	T	-0.727102	0.04460	T	0.00721448740604123	0.00083	T	0.471453	0.14032	T	0.10786244	0.25505	0.07335153	0.15931	0.10786244	0.25505	0.07335153	0.15930	-5.605	0.42838	T	.	.	0.119	0.31956	B	.;.;.;.;.	.;.;.;.;.	-0.214462	0.03019	0.459	0.92919892449973063	0.22481	0.02038	0.06102	N	AEFDBHCI	0.058653	0.11020	N	-1.69654386829525	0.00854	0.03694855	-1.83795273338028	0.00645	0.02867746	0.999999999993794	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	4.32	-8.64	0.00758	-2.224000	0.01296	-2.732000	0.03419	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2121:0.1278:0.421:0.2391	2.462	0.04267	909	0.22467	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1;.;Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008901	0.000000	0.001404	0.006098	0.000000	0.000000	0.016234	0.023077	0.02632	990.33	34	chr5	132825563	.	C	T	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.024;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.27;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	18	0	1	0
chr5	132825930	132825930	C	G	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.G211C:p.G71R,SHROOM1:NM_001172700:exon4:c.G211C:p.G71R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0046	0.00599042	0.0117	0.0619	0	0	0	0.0052	0	0	0.0011255	174	154602	rs201865788	0.0010	0.0012	0.0011	0.0010	0.0190	0.0010	0.0010	0.0176	0.0170	0.0190	0.0047	0.0124	0	0	0.0044	0.0003	0.0035	3.621e-05	0.0074	0.0074	0.0079	0.0069	0.0227	0.0071	0.0069	0.0215	0.0210	0.0227	0	0.0067	0.0104	0	0	0	0.0005	0.0100	0	0.003	0.68238	D	0.061	0.45530	T	0.838	0.49514	P	0.218	0.44145	B	0.973959	0.07797	N	1.015780	1	0.08975	N	1.04	0.26193	L	1.88	0.46028	T	-0.48	0.26422	N	0.133	0.13769	-1.0547	0.13119	T	0.045	0.19397	T	10	0.0053234994	0.00117	T	.	.	.	0.023	0.04649	.	.	0.601279251107	0.59809	0.2935695493563928	0.29269	1.75705472658	0.91076	0.731484830379	0.71723	T	0.009902	0.08979	T	-0.655494	0.00067	T	-0.697429	0.05967	T	0.00443382658404561	0.00047	T	0.712529	0.34485	T	0.100226425	0.23664	0.055669375	0.09807	0.100226425	0.23664	0.055669375	0.09807	-4.405	0.29625	T	.	.	0.147	0.42549	B	.;.;.;.;.	.;.;.;.;.	1.385141	0.17971	13.47	0.96089012131179241	0.28676	0.03681	0.08950	N	AEFDBCIJ	0.054012	0.09782	N	-0.736899366499802	0.14991	0.751616	-0.887839356590446	0.12381	0.6365739	0.999940939710863	0.47345	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.604944	0.38103	0	.	.	3.95	-0.277	0.12260	-0.229000	0.09106	0.771000	0.21396	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.2105:0.4294:0.0:0.3601	2.843	0.05194	909	0.22467	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005723	0.027778	0.009722	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1371.33	37	chr5	132825930	.	C	G	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.043;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.172;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr5	132861704	132861704	G	A	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.C1250T:p.P417L,GDF9:NM_001288824:exon3:c.C986T:p.P329L,GDF9:NM_001288825:exon4:c.C986T:p.P329L,GDF9:NM_001288826:exon4:c.C986T:p.P329L,GDF9:NM_001288827:exon4:c.C986T:p.P329L,GDF9:NM_001288828:exon4:c.C986T:p.P329L	.	.	.	.	.	.	.	.	.	.	.	3215372	GDF9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.592	0.133492086806	0.0021	0.00219649	0.0007	0.0069	0.0004	0	0	5.993e-05	0	0	0.0006015	93	154602	rs140742945	0.0003	0.0003	0.0003	0.0002	0.0085	0.0002	0.0002	0.0077	0.0074	0.0085	0.0002	0	0	0	0.0012	4.862e-05	0.0004	0.0001	0.0019	0.0019	0.0021	0.0016	0.0065	0.0017	0.0016	0.0059	0.0057	0.0065	0	0.0005	0	0	0	0	4.41e-05	0.0014	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.049257	1	0.81001	D	2.535	0.73915	M	-2.21	0.86963	D	-8.64	0.97530	D	0.806	0.80180	0.550	0.91239	D	0.758	0.91756	D	10	0.021094859	0.00498	T	0.133492	0.81587	D	0.592	0.83747	.	.	0.996849210349	0.99681	0.899084303325983	0.89880	0.276455520114	0.30112	0.617004096508	0.55305	T	0.922048	0.98612	D	-0.0823617	0.39331	T	0.112782	0.77758	D	0.13260879299579	0.15621	T	0.927907	0.73422	D	0.745841	0.80627	0.7351307	0.84345	0.73465276	0.79989	0.6775539	0.81062	-12.408	0.86782	D	.	.	0.575	0.67852	P	.;.;.;.;.	.;.;.;.;.	4.585090	0.72471	25.8	0.99819879148165602	0.90326	0.99026	0.90144	D	AEFBI	0.930883	0.91888	D	0.680529245954429	0.78358	6.855205	0.557893046698221	0.71950	5.733284	1.0	0.98316	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.97	5.97	0.96935	9.522000	0.97082	11.755000	0.95496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.604000	0.31488	0.0:0.0:1.0:0.0	20.096	0.97848	909	0.22467	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2248.33	34	chr5	132861704	.	G	A	2248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=809;ExcessHet=0;FS=7.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.34;SOR=0.529	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	132.28	33	chr5	132864353	.	G	C	132.28	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.037;DP=1045;ExcessHet=0.3672;FS=119.974;InbreedingCoeff=-0.0754;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.625;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,17:116:29:0|1:132864353_G_C:29,0,3685:132864353	16	0	3	0
chr5	132896597	132896597	G	A	exonic	AFF4	.	nonsynonymous SNV	AFF4:NM_014423:exon11:c.C2033T:p.P678L	CHOPS syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1020040	Cognitive_impairment_-_coarse_facies_-_heart_defects_-_obesity_-_pulmonary_involvement_-_short_stature_-_skeletal_dysplasia_syndrome|AFF4-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014609,MedGen:C4085597,OMIM:616368,Orphanet:444077|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0347379517326	.	0.000199681	3.295e-05	0	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs572126510	2.805e-05	2.805e-05	1.225e-05	4.4e-05	0.0003	2.087e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	7.194e-06	4.967e-05	0.0003	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0.0002	0.207	0.19854	T	0.228	0.25286	T	0.089	0.42542	B	0.025	0.47728	B	0.011245	0.29603	N	0.366734	0.999957	0.58761	D	1.78	0.46185	L	0.01	0.62459	T	-1.37	0.33998	N	0.198	0.29197	-0.7861	0.55956	T	0.230	0.59571	T	10	0.061825573	0.07811	T	0.034738	0.55878	D	0.064	0.18567	.	.	0.396040681932	0.39213	0.2452693811266816	0.24440	0.669621661834	0.59368	0.542760133743	0.44835	T	0.070525	0.33980	T	-0.318781	0.06998	T	-0.379527	0.35779	T	0.231352940201759	0.22016	T	0.89741	0.64114	D	0.07909241	0.18050	0.09418549	0.22283	0.087162405	0.20285	0.103358455	0.24796	-4.713	0.33561	T	0.2022634423720124	0.26898	0.081	0.15698	B	.;.	.;.	4.389300	0.67730	25.1	0.99590581937266798	0.73572	0.91004	0.52673	D	AEFBI	0.212254	0.33796	N	0.102711990347074	0.46588	2.896971	0.212117457475943	0.50519	3.243078	0.999999988003538	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	5.070000	0.64205	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.443	0.90619	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2208.33	41	chr5	132896597	.	G	A	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.614;DP=785;ExcessHet=0;FS=6.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.354;SOR=0.771	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1307	18	0	1	0
chr5	133086825	133086825	G	C	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon8:c.G952C:p.E318Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0170164323925	7.7e-05	.	2.475e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs373628820	9.579e-06	9.577e-06	8.169e-06	1.1e-05	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.089	0.42976	T	0.262	0.31549	B	0.357	0.43052	B	0.000000	0.84330	D	0.091326	1	0.81001	D	2.005	0.54552	M	1.54	0.30133	T	-2.69	0.57435	D	0.799	0.79792	-1.0158	0.25078	T	0.119	0.41756	T	10	0.78054637	0.77817	D	0.017016	0.38544	T	0.290	0.60924	.	.	0.654707454184	0.65182	0.6003537971548106	0.59966	0.821707907839	0.67205	0.54437816143	0.45064	T	0.294966	0.66764	T	-0.0170009	0.49280	T	-0.15454	0.58840	T	0.767617762088776	0.44297	D	0.981302	0.93576	D	0.6710429	0.76488	0.5899041	0.76207	0.6710429	0.76490	0.5899041	0.76208	-11.447	0.82053	D	.	.	0.212	0.49353	B	.;.;.	.;.;.	4.691150	0.75173	26.3	0.99768787927713587	0.85750	0.99591	0.97770	D	AEFBI	0.914322	0.87753	D	0.389559308658942	0.60856	4.279261	0.512944455527532	0.68858	5.278709	0.999999999979249	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	9.499000	0.96960	11.767000	0.95766	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.221	0.93781	897	0.25382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1107.33	36	chr5	133086825	.	G	C	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.63;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.138;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr5	133400970	133400970	G	C	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon4:c.C177G:p.N59K	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00798425516394	7.7e-05	0.000199681	0.0003	0	8.699e-05	0	0	1.573e-05	0.0012	0.0023	0.0002717	42	154602	rs370273827	0.0002	0.0002	8.582e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	2.236e-05	0	0	0	0.0003	3.597e-06	0.0001	0.0025	0.0001	0.0001	3.853e-05	0.0003	0.0041	9.735e-05	8.25e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.073	0.43393	T	0.069	0.43913	T	0.029	0.19866	B	0.018	0.18489	B	0.000073	0.00414	N	4.405430	1	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.82	0.22508	N	0.233	0.26233	-0.9932	0.31775	T	0.091	0.34710	T	10	0.0046454966	0.00097	T	0.007984	0.21162	T	0.059	0.16972	0.16	0.06396	0.530978576197	0.52746	0.6302735315787585	0.62961	0.26326674649	0.28884	0.272370398045	0.06452	T	0.058144	0.30762	T	-0.545391	0.00311	T	-0.56205	0.16185	T	0.0400880785999832	0.03707	T	0.455954	0.13062	T	0.05531784	0.10735	0.05081166	0.08049	0.05531784	0.10735	0.05081166	0.08049	-2.274	0.04415	T	.	.	0.082	0.20196	B	.;.;.	.;.;.	-1.609404	0.00235	0.004	0.72760239489496115	0.10086	0.10118	0.15712	N	AEFDBI	0.171479	0.29845	N	-1.8854786483526	0.00368	0.01580081	-2.01791743444744	0.00281	0.01238451	0.999998919062272	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.298653	0.05632	1	0.542086	0.14980	0	.	.	4.33	-8.67	0.00748	-0.576000	0.05947	-7.929000	0.01059	-1.439000	0.01106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5712:0.0828:0.2634:0.0826	6.161	0.19582	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	484.33	39	chr5	133400970	.	G	C	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=695;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.447;SOR=0.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1199	18	0	1	0
chr5	133968520	133968520	G	A	exonic	C5orf15	.	nonsynonymous SNV	C5orf15:NM_020199:exon1:c.C65T:p.A22V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00285879009885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262820876	6.872e-07	1.368e-06	0	1.383e-06	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.09	0.40267	T	.	.	.	.	.	.	0.084093	0.20716	N	0.398617	1	0.08975	N	.	.	.	.	.	.	-1.08	0.28084	N	0.175	0.18784	-1.0234	0.22606	T	0.054	0.22997	T	9	0.07067275	0.10313	T	0.002859	0.06015	T	0.014	0.01968	0.313	0.28774	0.0551355673512	0.04727	0.4368363136009374	0.43600	0.220456262239	0.24588	.	.	.	.	.	.	-0.258486	0.13077	T	-0.609073	0.12061	T	0.107144078183697	0.13124	T	0.462854	0.13445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24464	B	.	.	1.868871	0.23742	16.13	0.99136287371045217	0.53410	0.02046	0.06121	N	AEFGBHCIJ	0.124614	0.24075	N	-1.2580345333774	0.04195	0.1888598	-1.26369279523599	0.04931	0.2337976	0.999999999998443	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.88	0.939	0.18631	-0.200000	0.09480	0.507000	0.19047	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.0:0.4301:0.5699:0.0	11.701	0.50835	190	0.92594	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	67	chr5	133968520	.	G	A	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.593;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	18	0	1	0
chr5	133990901	133990901	G	A	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon5:c.C277T:p.R93C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	.	7.7e-05	0.00219649	0.0011	9.766e-05	8.702e-05	0	0	0	0	0.0125	0.0010802	167	154602	rs200874428	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	3.041e-05	0	0	7.606e-05	0	0.0009	2.103e-05	0.0007	0.0086	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.47e-05	0	0.0087	0.002	0.72154	D	0.005	0.72224	D	0.797	0.44809	P	0.478	0.47030	P	0.003248	0.35212	N	0.317119	0.999978	0.53665	D	1.15	0.29295	L	0.93	0.44065	T	-3.62	0.70067	D	0.281	0.31814	-0.8786	0.49872	T	0.145	0.46768	T	10	0.009866387	0.00221	T	.	.	.	0.223	0.52023	.	.	0.19168177325	0.18762	0.4964310023112478	0.49564	1.60464414724	0.88762	0.273338377476	0.06580	T	0.468271	0.80227	T	-0.451379	0.01109	T	-0.415036	0.31646	T	0.152521839510794	0.17303	T	0.785621	0.42343	T	0.26371378	0.49437	0.41442898	0.65587	0.26371378	0.49437	0.41442898	0.65587	-8.654	0.65444	D	.	.	0.116	0.28492	B	.;.;.;.	.;.;.;.	4.608015	0.73054	25.9	0.99924648409997918	0.98980	0.97546	0.75457	D	AEFDBI	0.891238	0.82701	D	0.526251616068139	0.68648	5.246107	0.579373220131971	0.73461	5.974507	0.999999999100917	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.968000	0.70121	7.542000	0.60105	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8518:0.1482	14.327	0.66086	177	0.93145	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1769.33	33	chr5	133990901	.	G	A	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.667;DP=760;ExcessHet=0;FS=5.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.014;SOR=0.369	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	18	0	1	0
chr5	134559913	134559913	C	T	exonic	JADE2	.	nonsynonymous SNV	JADE2:NM_001289984:exon5:c.C395T:p.P132L,JADE2:NM_001289985:exon5:c.C443T:p.P148L,JADE2:NM_001308143:exon5:c.C395T:p.P132L,JADE2:NM_015288:exon5:c.C395T:p.P132L	.	412	1109	1	0	0	1	0.000450653	.	.	.	709628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0098	0.00858626	0.0026	0.0285	0.0012	0	0	0	0.0011	0.0001	0.0024385	377	154602	rs35545286	0.0007	0.0007	0.0009	0.0006	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0008	0	0	0	0.0016	9.893e-06	0.0014	5.8e-05	0.0075	0.0075	0.0077	0.0073	0.0267	0.0072	0.0070	0.0254	0.0249	0.0267	0	0.0017	0	0	0	0	1.47e-05	0.0024	0.0004	0.278	0.19023	T	0.322	0.19304	T	0.001	0.17786	B	0.002	0.30857	B	0.208199	0.16431	N	0.614425	0.999525	0.47407	D	0.69	0.16971	N	1.02	0.40749	T	-0.86	0.27669	N	0.395	0.44857	-1.1011	0.03961	T	0.029	0.12278	T	10	0.003025204	0.00050	T	.	.	.	0.028	0.06331	.	.	0.143184338766	0.13958	0.4117899692501063	0.41094	0.852731849783	0.68618	0.466420382261	0.34190	T	0.017466	0.17198	T	-0.532443	0.00372	T	-0.516644	0.20636	T	0.00846570441895921	0.00103	T	0.837516	0.51030	T	0.04347316	0.06782	0.040990535	0.04556	0.04347316	0.06781	0.040990535	0.04556	-3.762	0.20238	T	.	.	0.071	0.04477	B	.;.;.;.;.;.	.;.;.;.;.;.	3.061605	0.41119	21.3	0.99754098599524588	0.84537	0.97299	0.73880	D	AEFBI	0.313612	0.41872	N	-0.0863258133977663	0.37992	2.218452	0.107132175130188	0.44911	2.763916	0.999984009268342	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	4.16	0.48138	2.756000	0.47228	.	.	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.3266:0.6734:0.0:0.0	10.822	0.45814	838	0.37812	.;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001362	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	1539.33	35	chr5	134559913	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=758;ExcessHet=0;FS=5.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.218;SOR=1.08	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr5	134661554	134661554	A	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon2:c.A533G:p.Y178C,SEC24A:NM_021982:exon2:c.A533G:p.Y178C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0569797869563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.43708	T	0.195	0.28032	T	0.102	0.25827	B	0.078	0.28627	B	0.758996	0.09639	N	0.891913	0.997006	0.22826	N	0.895	0.22405	L	-4.25	0.97054	D	-0.28	0.12661	N	0.288	0.32591	0.121	0.84561	D	0.761	0.91865	D	10	0.1919544	0.34903	T	0.05698	0.66802	D	0.239	0.54358	0.175	0.08135	0.898003812781	0.89699	0.3301089787337495	0.32923	0.17378015562	0.19568	0.344787716866	0.17151	T	0.014884	0.12588	T	0.0559007	0.59095	T	-0.157479	0.58578	T	0.215899216169104	0.21257	T	0.855114	0.54939	D	0.055575803	0.10820	0.047134727	0.06722	0.055575803	0.10820	0.047134727	0.06722	-7.031	0.54260	T	.	.	0.084	0.15206	B	.;.	.;.	2.807997	0.36954	20.4	0.96583914501814194	0.30344	0.61876	0.31613	D	AEFBI	0.098639	0.19872	N	-0.181788419235287	0.33894	1.928165	-0.0301127284919635	0.38361	2.259012	0.999088010153687	0.38397	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.55	3.15	0.35301	2.211000	0.42465	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.3462:0.4452:0.2087:0.0	4.13	0.09613	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	177.93	38	chr5	134661554	.	A	G	177.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.806;DP=1220;ExcessHet=0.119;FS=109.059;InbreedingCoeff=-0.0589;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.06;SOR=8.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	17	0	2	0
chr5	134666907	134666907	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon3:c.G650A:p.G217D,SEC24A:NM_021982:exon3:c.G650A:p.G217D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0195573298576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900074473	1.368e-06	2.052e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.007	0.78490	D	0.096	0.39340	T	0.986	0.61523	D	0.722	0.54942	P	0.007685	0.31251	N	0.275476	0.974687	0.39125	D	2.2	0.62015	M	1.04	0.50976	T	-1.17	0.34397	N	0.547	0.58713	-0.9586	0.39442	T	0.149	0.47610	T	10	0.44981182	0.58627	T	0.019557	0.41954	T	0.125	0.34456	0.258	0.20002	0.661741415227	0.65890	0.4590731741267711	0.45825	0.235260826517	0.26052	0.493867993355	0.37976	T	0.031414	0.22029	T	-0.0533159	0.43943	T	-0.314361	0.43190	T	0.359297921391486	0.27382	T	0.787921	0.44963	T	0.06715363	0.14514	0.09642072	0.22910	0.06715363	0.14514	0.09642072	0.22909	-8.021	0.61213	D	.	.	0.138	0.38190	B	.;.	.;.	2.539199	0.32847	19.16	0.98943938378186969	0.48997	0.83467	0.42582	D	AEFBI	0.168972	0.29577	N	-0.119982742354676	0.36523	2.11229	-0.184909937667438	0.32090	1.822302	0.7714359398896	0.23678	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.94	2.1	0.26226	1.593000	0.36297	.	.	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.0744:0.3219:0.6037:0.0	9.95	0.40804	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2034.33	33	chr5	134666907	.	G	A	2034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=764;ExcessHet=0;FS=7.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.16;SOR=1.317	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	18	0	1	0
chr5	134674651	134674651	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon5:c.G854A:p.S285N,SEC24A:NM_021982:exon5:c.G854A:p.S285N	.	434	1086	2	0	0	2	0.000919963	.	.	.	2343734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00298718486868	0.0005	.	0.0003	0	0	0	0	0.0006	0	0.0001	0.0002523	39	154602	rs201538262	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.988e-05	0.0001	0.0020	0	1.873e-05	0.0005	0.0002	0.0003	9.282e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	6.553e-05	0.0026	0	0	0	0.0004	0.0005	0	0.32	0.13834	T	0.632	0.12491	T	0.0	0.02946	B	0.002	0.06944	B	0.689819	0.10186	N	0.871487	0.875843	0.28132	N	0.77	0.19370	N	1.94	0.22678	T	-0.7	0.25551	N	0.083	0.06454	-0.9945	0.31432	T	0.024	0.10194	T	10	0.018056244	0.00390	T	0.002987	0.06398	T	0.094	0.27141	.	.	0.395745362164	0.39188	0.3301649579888429	0.32929	0.0920772939571	0.10393	0.422906041145	0.28237	T	0.030107	0.21417	T	-0.549715	0.00293	T	-0.709331	0.05329	T	0.0134441190212854	0.00244	T	0.720728	0.33361	T	0.0366955	0.04563	0.03394462	0.02375	0.0366955	0.04562	0.03394462	0.02374	-3.46	0.15876	T	.	.	0.065	0.12371	B	.;.	.;.	1.811930	0.23026	15.86	0.83946714806994682	0.15009	0.79414	0.39347	D	AEFBI	0.076687	0.15433	N	-0.508138599921409	0.21816	1.160553	-0.342978825371054	0.26725	1.478148	0.0016411897304927	0.08740	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	0.92	0.18524	0.700000	0.25278	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2396:0.4959:0.2645:0.0	5.417	0.15679	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	633.33	37	chr5	134674651	.	G	A	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=690;ExcessHet=0;FS=7.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.13;SOR=0.183	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,992	18	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S,SEC24A:NM_021982:exon9:c.C1384T:p.P462S	.	447	1072	3	0	0	3	0.0013973	.	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1696.33	34	chr5	134682375	.	C	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.704;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr5	135446471	135446471	G	A	exonic	DCANP1	.	nonsynonymous SNV	DCANP1:NM_130848:exon1:c.C638T:p.T213I	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00702022922797	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0011	0.0001358	21	154602	rs531198567	9.031e-05	9.029e-05	5.037e-05	0.0001	0.0011	7.757e-05	7.3e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0	2.248e-05	9.938e-05	0.0011	2.626e-05	2.624e-05	3.853e-05	1.342e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	0.4	0.34852	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.21	0.37230	T	-5.25	0.84035	D	0.065	0.03726	-1.0394	0.17495	T	0.040	0.17277	T	9	0.011543781	0.00252	T	0.00702	0.18594	T	0.044	0.11924	0.163	0.06730	0.0297737177859	0.01360	0.0014563695207016243	0.00134	0.0454073510886	0.04925	.	.	.	0.048063	0.27906	T	-0.608404	0.00130	T	-0.692258	0.06260	T	0.0875162261901039	0.10919	T	0.332167	0.06971	T	0.30386475	0.53249	0.16373281	0.37966	0.30386475	0.53249	0.16373281	0.37965	-4.138	0.25848	T	.	.	0.292	0.52318	B	.	.	1.176151	0.15662	12.01	0.45837588787108879	0.03627	0.03251	0.08277	N	AEFDBI	0.047817	0.08093	N	-1.07923910788671	0.07026	0.325207	-1.14916151222811	0.06783	0.3276759	0.90825749884406	0.26280	0.497415	0.19182	0	0.491513	0.07743	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.31	0.535	0.16326	0.473000	0.21843	1.652000	0.27851	-0.169000	0.11342	0.001000	0.13787	0.036000	0.21445	0.001000	0.02609	0.3957:0.0:0.6043:0.0	5.249	0.14827	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2385.33	35	chr5	135446471	.	G	A	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=845;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.201;SOR=0.556	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1297	18	0	1	0
chr5	135824446	135824446	C	T	exonic	LOC107986453	.	nonsynonymous SNV	LOC107986453:NM_001365196:exon2:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	36.06	.	chr5	135824446	.	C	T	36.06	.	AC=2;AF=0.077;AN=26;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=0.197;MLEAC=2;MLEAF=0.077;MQ=60;QD=18.03;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	12	1	0	6
chr5	136049472	136049472	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon7:c.C805T:p.L269F	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	0	1488	30	4	0	38	0.0126078	.	.	.	749220	not_provided|TGFBI-related_disorder|Corneal_dystrophy	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.332	.	0.0004	0.00239617	0.0018	0.0001	0.0005	0.0001	0	0.0006	0.0034	0.0100	0.0015782	244	154602	rs199852470	0.0010	0.0010	0.0007	0.0013	0.0098	0.0009	0.0009	0.0092	0.0090	8.961e-05	0.0006	0	2.519e-05	1.873e-05	0.0066	0.0004	0.0009	0.0098	0.0008	0.0008	0.0005	0.0012	0.0083	0.0007	0.0007	0.0063	0.0055	0.0002	0	0.0016	0.0003	0	0	0.0034	0.0007	0.0019	0.0083	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.565	0.93411	H	-3.67	0.95247	D	-3.34	0.66325	D	0.825	0.82057	1.000	0.97194	D	0.911	0.97039	D	10	0.011640012	0.00253	T	.	.	.	0.697	0.89053	.	.	0.988119808927	0.98799	0.9319671925485042	0.93175	0.315069041011	0.33789	0.5334623456	0.43522	T	0.849906	0.96575	D	0.0999566	0.64288	D	0.378766	0.91387	D	0.158747277795885	0.17779	T	0.913409	0.69158	D	0.6569642	0.75736	0.3904356	0.63839	0.71059954	0.78641	0.47896433	0.69820	-9.904	0.73334	D	0.5717359116076002	0.63888	0.449	0.67441	A	.;.	.;.	3.028649	0.40563	21.2	0.99836872543440758	0.91800	0.77442	0.38077	D	AEFBHCI	0.472013	0.51731	N	0.460775494352056	0.64816	4.74497	0.324843893063923	0.57004	3.864764	0.999999833384155	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.94	5.08	0.68373	1.008000	0.29475	2.757000	0.34577	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.786:0.0:0.214	9.221	0.36537	775	0.48401	FAS1 domain|FAS1 domain;FAS1 domain|FAS1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1263.33	33	chr5	136049472	.	C	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.731;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1304	18	0	1	0
chr5	136055683	136055683	C	G	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.C1414G:p.L472V	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0359188913848	.	.	8.72e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs748172304	4.832e-06	4.788e-06	6.843e-06	2.785e-06	2.25e-05	2.01e-06	1.29e-06	1.33e-06	9.7e-07	0	2.25e-05	0	0	0	0	4.538e-06	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.953	0.02596	T	0.946	0.53363	P	0.669	0.53077	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.035	0.25616	L	-2.5	0.89219	D	0.17	0.05125	N	0.445	0.48319	-0.8626	0.51075	T	0.194	0.54754	T	10	0.39513716	0.55171	T	0.035919	0.56656	D	0.610	0.84719	0.466	0.53729	0.909368473008	0.90846	0.6866400006191458	0.68603	0.162466490262	0.18328	0.745086789131	0.73722	T	0.310127	0.68210	T	0.248694	0.78478	D	0.20232	0.83256	D	0.363735347986221	0.27555	T	0.907909	0.67446	D	0.43455437	0.63050	0.1439342	0.34189	0.43455437	0.63050	0.1439342	0.34188	0.071	0.00325	T	0.2314771691879137	0.31326	0.204	0.42906	B	.	.	2.380159	0.30549	18.47	0.93599114132953032	0.23455	0.90079	0.50979	D	AEFBCI	0.895708	0.83603	D	0.163960036658719	0.49476	3.147457	0.238597884363468	0.52005	3.378264	0.999999998581728	0.74766	0.643511	0.44296	0	0.563428	0.19063	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	6.17	4.16	0.48138	3.161000	0.50446	3.269000	0.37146	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.8356:0.0:0.1644	11.653	0.50559	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	915.33	38	chr5	136055683	.	C	G	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.851;DP=804;ExcessHet=0;FS=0.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.19;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	18	0	1	0
chr5	136055734	136055734	G	C	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.G1465C:p.G489R	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.189405449353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044637	1	0.81001	D	1.96	0.53105	M	-3.45	0.94469	D	-6.13	0.90100	D	0.863	0.85979	-0.0558	0.81083	T	0.520	0.82072	D	10	0.9899493	0.99479	D	0.189405	0.86060	D	0.754	0.91583	0.946	0.99325	0.97030895582	0.96999	0.9698763578687539	0.96975	0.0693150109517	0.07761	0.685180604458	0.65013	T	0.947327	0.99215	D	0.464101	0.93103	D	0.428873	0.93017	D	0.993617653846741	0.84484	D	0.927407	0.73262	D	0.98231125	0.99281	0.9520083	0.98520	0.98231125	0.99281	0.9520083	0.98520	-13.06	0.89609	D	0.7900606666327733	0.86863	0.972	0.89712	P	.	.	4.805309	0.78123	26.8	0.99937694532275989	0.99661	0.98378	0.82168	D	AEFBCI	0.983495	0.99926	D	0.677080024351857	0.78131	6.810037	0.741768832391626	0.85540	8.611375	1.0	0.98316	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	20.879	0.99870	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1823.33	38	chr5	136055734	.	G	C	1823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.849;DP=806;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-1.117;SOR=0.898	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr5	137661998	137661998	C	T	exonic	KLHL3	.	nonsynonymous SNV	KLHL3:NM_001257195:exon5:c.G424A:p.E142K,KLHL3:NM_001257194:exon7:c.G574A:p.E192K,KLHL3:NM_017415:exon7:c.G670A:p.E224K	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0279986792812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.72154	D	0.028	0.74150	D	0.607	0.39488	P	0.393	0.44248	B	0.000006	0.62929	D	0.107097	0.999993	0.58761	D	1.06	0.26948	L	-0.34	0.68474	T	-2.75	0.58896	D	0.353	0.39457	-0.5476	0.66877	T	0.242	0.61024	T	10	0.69816285	0.72274	D	0.027999	0.50737	D	0.307	0.62838	0.756	0.88567	0.444038270253	0.44025	0.5486992528084579	0.54795	1.00681914297	0.74604	0.750348925591	0.74498	T	0.441932	0.78628	T	0.0288071	0.55564	T	-0.196397	0.54988	T	0.981353640556335	0.73864	D	0.971903	0.89805	D	0.69282883	0.77665	0.5602086	0.74555	0.69282883	0.77667	0.5602086	0.74556	-6.701	0.51818	T	0.18940643255798573	0.24776	0.204	0.49275	B	.;.;.;.	.;.;.;.	4.582324	0.72403	25.8	0.99869605679425488	0.94726	0.92722	0.56386	D	AEFDBI	0.599478	0.59248	D	0.303285330720668	0.56318	3.796225	0.414390485053886	0.62461	4.461821	0.99999990586261	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.99	4.99	0.65942	5.003000	0.63708	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.830	0.92103	70	0.97015	.;.;BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	34	chr5	137661998	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.14;SOR=0.781	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr5	138011837	138011837	A	G	exonic	FAM13B	.	nonsynonymous SNV	FAM13B:NM_001101801:exon4:c.T125C:p.V42A,FAM13B:NM_001101800:exon5:c.T479C:p.V160A,FAM13B:NM_016603:exon5:c.T479C:p.V160A	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0008	0.00359425	0.0002	0.0025	8.651e-05	0	0	0	0	0	0.000304	47	154602	rs112167634	0.0001	0.0001	0.0001	9.229e-05	0.0035	9.066e-05	8.548e-05	0.0029	0.0028	0.0035	0.0001	0	0	0	0.0002	0	0.0004	4.664e-05	0.0008	0.0008	0.0007	0.0008	0.0026	0.0006	0.0006	0.0022	0.0021	0.0026	0	0.0003	0	0	0	0	0	0.0005	0.0002	0.002	0.72154	D	0.0	0.92824	D	0.997	0.73220	D	0.965	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.455	0.92281	M	1.38	0.34050	T	-2.32	0.51478	N	0.892	0.89131	-0.4148	0.71557	T	0.141	0.46072	T	10	0.022152573	0.00546	T	.	.	.	0.621	0.85301	.	.	0.373944490328	0.37009	0.6669409627214516	0.66632	0.58392671646	0.54087	0.800362825394	0.82017	T	0.160778	0.50476	T	-0.0413128	0.45753	T	0.162643	0.80968	D	0.159981324970179	0.17870	T	0.946005	0.81505	D	0.76118207	0.81523	0.74226403	0.84765	0.76118207	0.81524	0.74226403	0.84766	-9.809	0.72760	D	.	.	0.979	0.90945	P	.;.;.	.;.;.	5.480373	0.91371	32	0.9989575353613529	0.96895	0.98713	0.85906	D	AEFBI	0.822140	0.74254	D	0.956848439683073	0.94254	12.61639	0.887893611001896	0.95021	13.24322	0.999999921327755	0.74766	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	8.710000	0.91091	11.156000	0.87498	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.655	0.76881	491	0.76657	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	513.33	36	chr5	138011837	.	A	G	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.072;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.229;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1019	18	0	1	0
chr5	138285732	138285732	C	T	exonic	CDC25C	.	nonsynonymous SNV	CDC25C:NM_022809:exon11:c.G1163A:p.R388Q,CDC25C:NM_001364028:exon12:c.G1253A:p.R418Q,CDC25C:NM_001364026:exon13:c.G1553A:p.R518Q,CDC25C:NM_001364027:exon13:c.G1280A:p.R427Q,CDC25C:NM_001287582:exon14:c.G1382A:p.R461Q,CDC25C:NM_001287583:exon14:c.G1616A:p.R539Q,CDC25C:NM_001318098:exon14:c.G1433A:p.R478Q,CDC25C:NM_001790:exon14:c.G1382A:p.R461Q	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00719650705673	0.0035	0.00139776	0.0035	0.0009	0.0020	0	0.0011	0.0042	0.0077	0.0058	0.0032923	509	154602	rs139145068	0.0037	0.0037	0.0035	0.0039	0.0078	0.0036	0.0036	0.0060	0.0054	0.0007	0.0026	0.0137	2.519e-05	0.0009	0.0078	0.0036	0.0046	0.0060	0.0030	0.0030	0.0031	0.0030	0.0060	0.0028	0.0027	0.0043	0.0037	0.0007	0.0252	0.0035	0.0112	0	0.0014	0.0068	0.0039	0.0028	0.0060	0.188	0.21304	T	0.163	0.31125	T	0.014	0.20002	B	0.002	0.11217	B	0.340066	0.13977	N	0.630192	0.999996	0.18878	N	0.91	0.23283	L	2.26	0.27184	T	-2.46	0.55501	N	0.042	0.17140	-1.0358	0.18606	T	0.027	0.11397	T	10	0.0035972	0.00065	T	0.007197	0.19089	T	0.035	0.08770	.	.	0.359557344763	0.35564	0.41471321559080504	0.41387	0.193333280762	0.21667	0.185266166925	0.00152	T	0.335253	0.70490	T	-0.619989	0.00110	T	-0.660875	0.08206	T	0.012438111651714	0.00204	T	0.778722	0.41238	T	0.048525088	0.08473	0.06932186	0.14591	0.048525088	0.08472	0.06932186	0.14591	-3.009	0.15931	T	.	.	0.069	0.03479	B	.;.;.;.;.	.;.;.;.;.	0.240852	0.06213	2.662	0.98011771100408052	0.37559	0.05079	0.10874	N	AEFGBI	0.049155	0.08462	N	-0.846041984606885	0.12147	0.5903535	-0.825473074112167	0.13879	0.7223222	2.76988377908969E-4	0.06300	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	-0.722	0.10620	-0.292000	0.08368	-2.651000	0.03506	0.580000	0.29708	0.039000	0.20931	0.000000	0.08366	0.954000	0.50415	0.0:0.4294:0.0:0.5706	10.151	0.41971	396	0.82953	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.007576	0.02632	1343.33	38	chr5	138285732	.	C	T	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.291;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1448	18	0	1	0
chr5	138341242	138341242	G	T	exonic	FAM53C	.	nonsynonymous SNV	FAM53C:NM_001350195:exon2:c.G26T:p.G9V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.116e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.06	0.06253	N	.	.	-0.2829	0.75461	T	0.352	0.71588	T	5	0.17147532	0.31868	T	.	.	.	0.309	0.63055	0.29	0.25081	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.008317	0.07645	T	-0.0691335	0.41466	T	-0.337082	0.40675	T	0.321016578817998	0.25863	T	0.293371	0.05395	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36986	B	.	.	2.461912	0.31716	18.83	0.91642766821509958	0.20930	0.83009	0.42165	D	AEFDBCI	0.441177	0.49943	N	0.128617373747993	0.47801	3.00083	0.195308317492355	0.49590	3.16031	0.999999716081809	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.35	4.47	0.53770	2.400000	0.44157	8.416000	0.77138	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8384:0.1616	13.033	0.58263	343	0.85802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	35	chr5	138341242	.	G	T	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.495;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.134;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1322	18	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	747.99	33	chr5	138386226	.	G	A	747.99	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,17:119:8:0|1:138386225_T_C:8,0,3380:138386225	15	0	4	0
chr5	138386226	138386226	G	C	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985C:p.A329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00544320634367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	9.032e-05	2.725e-06	1.376e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.228	0.25286	T	0.001	0.07471	B	0.002	0.06944	B	0.000815	0.41658	D	0.203233	1	0.81001	D	0.895	0.22405	L	0.03	0.62183	T	0.18	0.05035	N	0.267	0.30233	-1.0410	0.17011	T	0.108	0.39123	T	10	0.084789276	0.14249	T	0.005443	0.13984	T	0.115	0.32236	0.146	0.04941	0.236619781664	0.23270	0.3316996984666752	0.33082	0.940861409752	0.72196	0.490030616522	0.37442	T	0.010718	0.09649	T	-0.0544729	0.43765	T	-0.316023	0.43009	T	0.128398833405917	0.15233	T	0.787021	0.42574	T	0.056165434	0.11014	0.11014413	0.26555	0.056165434	0.11013	0.11014413	0.26554	-3.799	0.20790	T	.	.	0.098	0.16187	B	.	.	2.362095	0.30299	18.39	0.99277544003266294	0.57799	0.90233	0.51248	D	AEFBI	0.401955	0.47624	N	-0.366598262700382	0.26666	1.457114	-0.186184598128118	0.32042	1.81919	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.99	33	chr5	138386226	.	G	C	747.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:102,0:119:8:0|1:138386225_T_C:8,313,3743:138386225	18	0	1	0
chr5	138386329	138386329	A	C	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.A1088C:p.N363T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0411498965892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.06	0.45744	T	0.993	0.65571	D	0.984	0.76113	D	0.000001	0.84330	D	0.094000	1	0.81001	D	0.975	0.24501	L	-0.27	0.67367	T	-1.52	0.36980	N	0.669	0.67736	-0.1134	0.79789	T	0.456	0.78831	T	10	0.5567499	0.64560	D	0.04115	0.59768	D	0.281	0.59861	0.268	0.21576	0.223474106383	0.21959	0.5734301853859414	0.57272	1.53634483555	0.87659	0.745491743088	0.73781	T	0.029121	0.20940	T	0.0182365	0.54142	T	-0.211581	0.53544	T	0.773373972595831	0.44643	D	0.905609	0.66735	D	0.31680292	0.54368	0.32347426	0.58278	0.31680292	0.54368	0.32347426	0.58278	-3.539	0.16982	T	.	.	0.818	0.78123	P	.	.	4.478056	0.69836	25.4	0.99555783147102239	0.71459	0.99520	0.97008	D	AEFBI	0.914069	0.87694	D	0.64078346897624	0.75774	6.365655	0.674046922022807	0.80414	7.293257	0.999999999998378	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	5.6	5.6	0.84997	8.350000	0.89972	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.758	0.77820	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	33	chr5	138386329	.	A	C	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.45;SOR=0.661	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	138445507	138445507	C	T	exonic	REEP2	.	nonsynonymous SNV	REEP2:NM_001271803:exon7:c.C605T:p.P202L,REEP2:NM_016606:exon7:c.C599T:p.P200L	.	414	1105	3	0	0	3	0.00135563	.	.	.	691725	Hereditary_spastic_paraplegia_72|not_provided	MONDO:MONDO:0014282,MedGen:C5882669,OMIM:615625,Orphanet:401849|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	.	0.0014	0.00439297	0.0005	0.0047	0.0002	0	0.0002	0.0002	0	0	0.0005563	86	154602	rs111927109	0.0003	0.0003	0.0003	0.0003	0.0065	0.0003	0.0002	0.0058	0.0055	0.0065	0.0002	0	5.038e-05	9.36e-05	0.0005	0.0001	0.0007	8.116e-05	0.0016	0.0016	0.0016	0.0015	0.0051	0.0014	0.0014	0.0045	0.0043	0.0051	0	0.0007	0	0	9.416e-05	0	0.0002	0.0014	0.0002	0.275	0.15770	T	0.274	0.22084	T	0.0	0.02946	B	0.0	0.01387	B	0.520366	0.11748	N	0.787170	0.658139	0.33026	D	1.245	0.31408	L	-2.15	0.86624	D	-0.75	0.21003	N	0.047	0.01911	-0.6804	0.61354	T	0.159	0.49228	T	10	0.0044332743	0.00091	T	.	.	.	0.284	0.60219	.	.	0.082315109003	0.07666	0.12269721794532144	0.12195	0.693671442879	0.60719	0.308271557093	0.11646	T	0.02229	0.17210	T	-0.453693	0.01074	T	-0.423522	0.30672	T	0.00226878040477666	0.00024	T	0.436356	0.11970	T	0.029321024	0.02408	0.029773753	0.01353	0.023332274	0.01065	0.027552588	0.00916	-2.839	0.08548	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	0.102716	0.05038	1.586	0.47269321538261327	0.03852	0.21738	0.21507	N	AEFDBHI	0.178349	0.30561	N	-1.39088236766308	0.02723	0.120634	-1.35092825375313	0.03795	0.1777496	0.999982144868678	0.51787	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.14	2.68	0.30839	1.289000	0.32913	2.821000	0.34963	-1.928000	0.00501	0.097000	0.22731	1.000000	0.68203	0.003000	0.05239	0.5706:0.2905:0.0:0.1388	6.992	0.23940	375	0.84013	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.011696	0.000000	0.017241	0.000000	0.000000	0.02632	1701.33	33	chr5	138445507	.	C	T	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.209;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	18	0	1	0
chr5	138465994	138465994	-	CAG	exonic	EGR1	.	nonframeshift insertion	EGR1:NM_001964:exon1:c.233_234insCAG:p.S84_T85insS	.	305	1216	1	0	0	1	0.000411015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0004	0.0029	0.0006	0.0001	0	2.005e-05	0	0.0010	0.000304	47	154602	rs113180988	0.0003	0.0003	0.0003	0.0003	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0006	0	0.0002	0	0.0007	8.201e-05	0.0007	0.0007	0.0014	0.0014	0.0014	0.0014	0.0040	0.0012	0.0012	0.0035	0.0034	0.0040	0	0.0021	0	0.0004	0	0	8.828e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1009.29	35	chr5	138465994	.	A	ACAG	1009.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.167;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-1.089;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,969	18	0	1	0
chr5	138924626	138924626	G	A	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001324010:exon3:c.G214A:p.V72I,CTNNA1:NM_001324012:exon4:c.G310A:p.V104I,CTNNA1:NM_001290312:exon6:c.G553A:p.V185I,CTNNA1:NM_001323987:exon6:c.G553A:p.V185I,CTNNA1:NM_001323994:exon6:c.G553A:p.V185I,CTNNA1:NM_001324001:exon6:c.G553A:p.V185I,CTNNA1:NM_001324002:exon6:c.G553A:p.V185I,CTNNA1:NM_001324004:exon6:c.G553A:p.V185I,CTNNA1:NM_001323989:exon7:c.G553A:p.V185I,CTNNA1:NM_001323991:exon7:c.G553A:p.V185I,CTNNA1:NM_001324000:exon7:c.G553A:p.V185I,CTNNA1:NM_001324008:exon7:c.G214A:p.V72I,CTNNA1:NM_001324009:exon7:c.G214A:p.V72I,CTNNA1:NM_001324013:exon7:c.G310A:p.V104I,CTNNA1:NM_001323990:exon8:c.G553A:p.V185I,CTNNA1:NM_001324003:exon8:c.G553A:p.V185I,CTNNA1:NM_001324011:exon8:c.G460A:p.V154I,CTNNA1:NM_001323988:exon9:c.G553A:p.V185I,CTNNA1:NM_001323992:exon9:c.G553A:p.V185I,CTNNA1:NM_001323993:exon9:c.G553A:p.V185I,CTNNA1:NM_001323995:exon9:c.G553A:p.V185I,CTNNA1:NM_001323996:exon9:c.G553A:p.V185I,CTNNA1:NM_001323997:exon9:c.G553A:p.V185I,CTNNA1:NM_001323998:exon9:c.G553A:p.V185I,CTNNA1:NM_001323999:exon9:c.G553A:p.V185I,CTNNA1:NM_001324005:exon9:c.G553A:p.V185I,CTNNA1:NM_001324007:exon9:c.G214A:p.V72I,CTNNA1:NM_001324006:exon10:c.G214A:p.V72I,CTNNA1:NM_001290309:exon11:c.G1354A:p.V452I,CTNNA1:NM_001323986:exon11:c.G1570A:p.V524I,CTNNA1:NM_001290307:exon12:c.G1663A:p.V555I,CTNNA1:NM_001290310:exon12:c.G1294A:p.V432I,CTNNA1:NM_001323983:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323985:exon12:c.G1663A:p.V555I,CTNNA1:NM_001903:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323982:exon13:c.G1663A:p.V555I,CTNNA1:NM_001323984:exon13:c.G1663A:p.V555I	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633408	CTNNA1-related_disorder|not_provided|Patterned_macular_dystrophy_2|Hereditary_cancer-predisposing_syndrome|not_specified	.|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.156	0.0102486228906	.	0.000199681	9.044e-05	0	0.0002	0.0003	0	1.813e-05	0	0.0003	6.47e-05	10	154602	rs201877485	2.19e-05	2.326e-05	2.043e-05	2.339e-05	0.0002	1.585e-05	1.357e-05	0.0001	0.0001	0	0.0002	0	5.039e-05	0	0	3.598e-06	1.657e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.536e-05	2.18e-06	8.2e-07	.	.	0	0	6.536e-05	0	0	0	0	1.47e-05	0	0	0.375	0.11994	T	0.363	0.17217	T	0.06	0.23119	B	0.01	0.20508	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.76	0.19266	N	0.8	0.48769	T	-0.42	0.14193	N	0.303	0.38335	-1.0657	0.10386	T	0.107	0.38955	T	10	0.097353935	0.17527	T	0.010249	0.26566	T	0.156	0.40720	.	.	0.505123781055	0.50150	0.6497396599705746	0.64909	0.808570310498	0.66628	0.741013944149	0.73123	T	0.021731	0.60479	T	-0.258566	0.13068	T	-0.315702	0.43045	T	0.0477290905329558	0.05096	T	0.810419	0.46176	T	0.2068134	0.42868	0.18845247	0.42136	0.2068134	0.42868	0.18845247	0.42135	-8.552	0.69745	D	0.2506595365716813	0.33923	0.141	0.35477	B	.;.;.;.	.;.;.;.	3.946603	0.57785	23.9	0.99097774927682769	0.52396	0.99100	0.91225	D	AEFGBI	0.935675	0.93088	D	-0.0521733877039411	0.39505	2.33078	0.119037976654702	0.45524	2.813965	0.999999999999471	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	8.137000	0.89516	11.934000	0.99956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	19.720	0.96134	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr5	138924626	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=728;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.89;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	18	0	1	0
chr5	139042705	139042705	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon5:c.C368T:p.T123I,SIL1:NM_001037633:exon6:c.C368T:p.T123I	Marinesco-Sjogren syndrome, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	101980	Marinesco-Sjögren_syndrome|SIL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	0.022469175072	0.0063	0.00199681	0.0058	0.0021	0.0010	0	0.0017	0.0086	0.0033	0.0047	0.0058149	899	154602	rs115800498	0.0073	0.0073	0.0074	0.0072	0.0086	0.0072	0.0071	0.0084	0.0084	0.0011	0.0018	0.0013	2.519e-05	0.0019	0.0052	0.0086	0.0065	0.0053	0.0047	0.0047	0.0049	0.0046	0.0084	0.0044	0.0043	0.0078	0.0076	0.0013	0	0.0029	0.0003	0.0002	0.0006	0.0034	0.0084	0.0066	0.0050	0.032	0.72154	D	0.016	0.60972	D	0.216	0.30161	B	0.081	0.31843	B	0.099780	0.19918	N	0.530450	0.999894	0.19781	N	1.59	0.40313	L	-0.61	0.71779	T	-2.12	0.51319	N	0.282	0.32370	-0.8504	0.51940	T	0.209	0.56893	T	10	0.006200969	0.00174	T	0.022469	0.45362	T	0.251	0.56024	.	.	0.466059976078	0.46230	0.2802614282165687	0.27939	0.372858591364	0.38771	0.486942917109	0.37016	T	0.243797	0.61279	T	-0.30756	0.07964	T	-0.20517	0.54157	T	0.0149357539256162	0.00318	T	0.810819	0.46223	T	0.07017364	0.15436	0.11561561	0.27910	0.064821616	0.13792	0.11561561	0.27909	-5.027	0.37132	T	0.1939016132239977	0.25530	0.167	0.49255	B	.;.;.;.;.	.;.;.;.;.	2.571939	0.33327	19.31	0.99189030372839704	0.54906	0.78831	0.38954	D	AEFDBI	0.237679	0.35993	N	-0.166597482616396	0.34531	1.972092	-0.0870876997230101	0.35923	2.084157	0.00847338030882632	0.11683	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.97	3.16	0.35406	1.608000	0.36458	5.819000	0.50068	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.986000	0.61781	0.0:0.3675:0.6325:0.0	11.833	0.51579	602	0.67834	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.02632	1695.33	35	chr5	139042705	.	G	A	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.249;DP=793;ExcessHet=0;FS=0.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.6;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr5	139325664	139325664	-	ATAGACTATGTGATACCTAAAACAGG	splicing	MATR3	NM_001282278:exon15:c.1357+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194954:exon15:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_199189:exon16:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_018834:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194956:exon12:c.1507+2->ATAGACTATGTGATACCTAAAACAGG;NM_001194955:exon13:c.2371+2->ATAGACTATGTGATACCTAAAACAGG	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	2.121e-05	0	1.377e-06	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	59.29	169	chr5	139325664	.	T	TATAGACTATGTGATACCTAAAACAGG	59.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=1150;ExcessHet=0;FS=23.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-6.023;QD=0.35;ReadPosRankSum=-4.647;SOR=4.204	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	18	0	1	0
chr5	139389807	139389807	A	G	exonic	MZB1	.	nonsynonymous SNV	MZB1:NM_016459:exon1:c.T50C:p.I17T	.	419	1089	14	0	0	14	0.00638686	.	.	.	709653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0073	0.00998403	0.0057	0.0369	0.0050	0	0	0.0028	0.0106	0.0006	0.00163	252	154602	rs114473756	0.0014	0.0013	0.0015	0.0013	0.0290	0.0013	0.0013	0.0275	0.0269	0.0290	0.0020	0.0034	0	6.232e-05	0.0173	0.0005	0.0031	0.0005	0.0090	0.0090	0.0091	0.0088	0.0293	0.0086	0.0084	0.0279	0.0273	0.0293	0.0088	0.0035	0.0029	0	0.0002	0.0170	0.0007	0.0081	0.0006	0.007	0.59928	D	0.009	0.66756	D	0.164	0.28467	B	0.04	0.23831	B	.	.	.	.	0.586492	0.32419	D	2.19	0.61577	M	.	.	.	0.03	0.06612	N	0.106	0.09066	-1.0449	0.15854	T	0.009	0.03359	T	8	0.0024272501	0.00036	T	.	.	.	0.026	0.05648	.	.	0.31501682445	0.31101	0.13884210332941474	0.13807	0.0593196211835	0.06588	0.547487854958	0.45503	T	0.021682	0.16841	T	-0.419934	0.01712	T	-0.351608	0.39020	T	0.0132087441274408	0.00235	T	0.731327	0.34690	T	0.0658717	0.14119	0.09854556	0.23498	0.0658717	0.14118	0.09854556	0.23497	-2.494	0.05740	T	.	.	0.303	0.53237	B	.	.	1.539469	0.19741	14.42	0.92330843716784294	0.21727	0.01553	0.05089	N	ALL	0.093611	0.18938	N	-0.758120964766353	0.14413	0.717779	-0.76649262791605	0.15318	0.8049976	0.999999999999983	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.73	1.0	0.18999	0.097000	0.15007	3.442000	0.38388	0.756000	0.94297	0.001000	0.13787	0.992000	0.31684	0.596000	0.31288	0.5922:0.2011:0.2067:0.0	3.488	0.07189	626	0.65439	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014706	0.010204	0.031065	0.009375	0.000000	0.000000	0.000000	0.016667	0.02632	764.33	38	chr5	139389807	.	A	G	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=697;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.32;SOR=1.068	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1397	18	0	1	0
chr5	139393683	139393683	C	T	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.G1399A:p.G467R	.	426	1088	7	1	0	9	0.00411899	.	.	.	2379311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00232725472628	0.0002	0.000199681	0.0006	0	0	0	0	0.0012	0	0.0004	0.0001552	24	154602	rs377325818	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	6.33e-05	0.0005	0.0044	0	0	0.0023	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.908e-05	0	0	0.0002	0.0023	0	0	0	0.0002	0.0009	0	0.874	0.02581	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	.	.	.	1.43	0.00805	N	0.077	0.05162	-0.9897	0.32677	T	0.033	0.14334	T	8	0.004777491	0.00101	T	0.002327	0.04507	T	0.011	0.01250	0.226	0.15109	0.0551355673512	0.04727	0.025325965205608567	0.02483	.	.	0.272533655167	0.06473	T	7.81E-4	0.00376	T	-0.560545	0.00252	T	-0.712959	0.05144	T	0.00663106754038004	0.00074	T	0.446455	0.12522	T	0.030092647	0.02612	0.052207988	0.08557	0.030092647	0.02612	0.052207988	0.08557	-2.255	0.04316	T	.	.	0.094	0.14339	B	.	.	-0.429859	0.02104	0.198	0.5699926620880883	0.05673	0.00256	0.01406	N	AEFDGBCI	0.035713	0.04644	N	-1.34907614716816	0.03134	0.1395339	-1.31407204023235	0.04248	0.1999421	0.999999791667306	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.08	1.72	0.23498	-0.693000	0.05222	-0.217000	0.10799	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.35:0.0:0.65	5.852	0.17948	627	0.65350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001099	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	2254.33	135	chr5	139393683	.	C	T	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=1161;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.447;SOR=0.533	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr5	139814306	139814306	C	T	exonic	PSD2	.	nonsynonymous SNV	PSD2:NM_032289:exon4:c.C958T:p.R320C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0786315406083	.	.	8.344e-06	0	8.676e-05	0	0	0	0	0	6.5e-06	1	154602	rs780382900	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	0.59	0.53943	T	-6.57	0.91912	D	0.891	0.89020	-0.0657	0.80872	T	0.404	0.75409	T	10	0.90796024	0.90161	D	0.078632	0.73049	D	0.499	0.78288	0.739	0.87147	0.69339003149	0.69075	0.6353270743247242	0.63466	1.61574220227	0.89002	0.783847212791	0.79509	T	0.303303	0.67566	T	0.196336	0.73549	D	0.127112	0.78703	D	0.971614028740755	0.69384	D	0.99594	0.98606	D	0.6881761	0.77412	0.43403858	0.66937	0.6881761	0.77414	0.43403858	0.66937	-11.687	0.83293	D	.	.	0.613	0.69395	P	.	.	5.707384	0.93153	33	0.99936870850462478	0.99661	0.97441	0.74770	D	AEFBI	0.634458	0.61432	D	0.754608898647556	0.83204	7.956681	0.65607697358505	0.79062	7.004053	0.00175129679640722	0.08850	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.7	4.7	0.58776	3.525000	0.53257	4.820000	0.45111	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.3114:0.6886:0.0:0.0	11.641	0.50493	22	0.98466	Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr5	139814306	.	C	T	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=697;ExcessHet=0;FS=3.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=1.19;SOR=0.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1140	18	0	1	0
chr5	139848493	139848493	T	0	exonic	NRG2	.	.	.	.	438	849	203	25	7	260	0.129677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	153.63	7	chr5	139848493	.	T	*	153.63	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.99;DP=329;ExcessHet=1.4774;FS=1.101;InbreedingCoeff=-0.1876;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-0.705;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:20,0:20:0:.:.:0,0,367:.	12	0	3	4
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:81,18:99:57:0|1:139887481_C_T:0,57,2771:139887481	10	0	7	2
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,26:102:99:0|1:139887481_C_T:102,0,1864:139887481	10	0	7	2
chr5	140557250	140557250	G	A	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001253764:exon1:c.C203T:p.T68M	.	435	1083	3	1	0	5	0.00230309	.	.	.	709663	SRA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0092	0.00838658	0.0027	0.0309	0.0017	0	0	4.653e-05	0.0034	0.0001	0.0025744	398	154602	rs34009206	0.0009	0.0009	0.0010	0.0008	0.0299	0.0008	0.0008	0.0284	0.0277	0.0299	0.0019	0	0	0	0.0017	1.889e-05	0.0022	5.798e-05	0.0087	0.0087	0.0091	0.0083	0.0302	0.0083	0.0082	0.0288	0.0283	0.0302	0	0.0033	0	0	0	0.0136	2.94e-05	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1316.33	94	chr5	140557250	.	G	A	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=1262;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.16;SOR=0.75	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr5	140786785	140786785	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C495A:p.N165K,PCDHA1:NM_031410:exon1:c.C495A:p.N165K,PCDHA1:NM_031411:exon1:c.C495A:p.N165K	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0545025285879	0.0002	.	6.605e-05	0	0	0	0	7.496e-05	0	0.0002	5.17e-05	8	154602	rs373829612	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.338e-05	8.279e-05	3.478e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	6.545e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.545e-05	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000315	0.45977	U	0.000000	0.994396	0.25081	N	4.48	0.98915	H	0.23	0.59717	T	-5.65	0.87760	D	0.825	0.91968	-0.2425	0.76561	T	0.543	0.83185	D	10	0.8321685	0.82378	D	0.054503	0.65882	D	0.267	0.58126	0.851	0.95260	0.777066498421	0.77501	0.2984846932060023	0.29761	1.08417428134	0.77226	.	.	.	0.53023	0.83731	D	-0.177151	0.24159	T	-0.289587	0.45816	T	0.959610164165497	0.65579	D	0.992826	0.97638	D	0.87422496	0.89198	0.77909344	0.86973	0.87422496	0.89200	0.77909344	0.86974	-10.409	0.77060	D	.	.	0.729	0.76380	P	.;.;.	.;.;.	1.902752	0.24170	16.29	0.99065478163975207	0.51598	0.29860	0.23932	N	AEFDBI	0.346302	0.44116	N	-0.216727585839938	0.32448	1.829993	-0.616698020148007	0.19064	1.021227	0.266552085702639	0.18847	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.13	-3.8	0.04025	-0.925000	0.04100	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.3051:0.0:0.6949	13.325	0.59895	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1479.33	42	chr5	140786785	.	C	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=768;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.707;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr5	140786949	140786949	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C659A:p.P220Q,PCDHA1:NM_031410:exon1:c.C659A:p.P220Q,PCDHA1:NM_031411:exon1:c.C659A:p.P220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0644882458768	0.0009	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs149577981	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0007	0	0	0	0.0010	7.554e-05	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	7.35e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000661	0.42656	U	0.000000	0.999419	0.49637	D	3.985	0.96662	H	0.51	0.55439	T	-7.52	0.95511	D	0.635	0.80572	0.388	0.88909	D	0.500	0.81091	T	10	0.10058892	0.18328	T	0.064488	0.69294	D	0.478	0.76946	.	.	0.871671135437	0.87042	0.2652070297385214	0.26433	0.971337437332	0.73375	.	.	.	0.427812	0.77716	T	-0.224236	0.17419	T	-0.100424	0.63365	T	0.258169126413849	0.23235	T	0.991581	0.97347	D	0.8010245	0.83971	0.8099672	0.88898	0.8010245	0.83972	0.8099672	0.88898	-10.702	0.78140	D	.	.	0.324	0.63100	B	.;.;.	.;.;.	4.370399	0.67286	25.1	0.99057717882984875	0.51413	0.99508	0.96874	D	AEFDBI	0.878409	0.80366	D	0.864117441316384	0.89897	10.16432	0.699167843085057	0.82313	7.736776	0.999999998811577	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	4.19	0.48645	7.903000	0.86133	.	.	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.980000	0.58198	0.0:1.0:0.0:0.0	16.871	0.85906	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2637.33	42	chr5	140786949	.	C	A	2637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=868;ExcessHet=0;FS=6.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.512;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr5	140788503	140788503	C	T	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C2213T:p.T738I,PCDHA1:NM_031410:exon1:c.C2213T:p.T738I	.	423	1060	38	1	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0058	0.00479233	0.0063	0.0010	0.0022	0	0.0011	0.0082	0.0088	0.0101	0.0060995	943	154602	rs13176401	0.0070	0.0070	0.0068	0.0072	0.0123	0.0069	0.0069	0.0104	0.0102	0.0011	0.0027	0.0242	5.038e-05	0.0007	0.0123	0.0072	0.0074	0.0110	0.0053	0.0053	0.0060	0.0046	0.0073	0.0050	0.0049	0.0068	0.0066	0.0015	0	0.0063	0.0262	0.0004	0.0008	0.0102	0.0073	0.0071	0.0072	0.026	0.46910	D	0.289	0.21078	T	0.079	0.31497	B	0.135	0.33210	B	0.377027	0.04397	U	1.564530	1	0.08975	N	2.98	0.85499	M	2.69	0.12268	T	-3.01	0.64246	D	0.094	0.24758	-1.0051	0.28427	T	0.023	0.09650	T	10	0.0038641095	0.00073	T	.	.	.	0.041	0.10877	.	.	0.146414634003	0.14194	0.4992395497059017	0.49844	0.509160944495	0.49056	.	.	.	0.330682	0.70084	T	-0.653046	0.00069	T	-0.70287	0.05670	T	0.0360362763197902	0.02986	T	0.877312	0.59062	D	0.068108805	0.14811	0.1010875	0.24189	0.068108805	0.14811	0.1010875	0.24188	-5.73	0.46687	T	.	.	0.117	0.23605	B	.;.	.;.	0.117301	0.05153	1.676	0.90841325934908235	0.20090	0.01400	0.04746	N	AEFDBI	0.057516	0.10720	N	-1.38394634931916	0.02788	0.1236151	-1.60201900919824	0.01643	0.07457226	0.881550449451469	0.25634	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.16	-6.43	0.01754	-2.791000	0.00837	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2076:0.1868:0.4658:0.1398	3.890	0.08619	18	0.98631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.000000	0.024390	0.007576	0.05263	5516.83	181	chr5	140788503	.	C	T	5516.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.38;DP=2741;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=2.22;SOR=0.692	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	17	0	2	0
chr5	140803137	140803137	T	C	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.T1940C:p.L647P,PCDHA3:NM_031497:exon1:c.T1940C:p.L647P	.	427	1089	6	0	0	6	0.00274725	.	.	.	3212710	PCDHA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.243787462749	0.0009	0.000998403	0.0010	9.709e-05	0.0023	0	0	0.0010	0.0022	0.0011	0.0008861	137	154602	rs149374718	0.0006	0.0006	0.0006	0.0007	0.0088	0.0006	0.0006	0.0069	0.0062	0.0006	0.0021	0.0029	0	5.638e-05	0.0088	0.0004	0.0014	0.0008	0.0006	0.0006	0.0007	0.0005	0.0020	0.0005	0.0005	0.0014	0.0012	9.619e-05	0.0022	0.0020	0.0023	0	0	0.0034	0.0005	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.014402	0.28541	U	0.000000	1	0.81001	D	4.18	0.97724	H	0.26	0.59314	T	-6.37	0.92042	D	0.863	0.88137	0.423	0.89444	D	0.497	0.80941	T	10	0.13322487	0.25357	T	0.243787	0.88816	D	0.523	0.79765	.	.	0.909870636381	0.90897	0.8673886149845436	0.86703	.	.	.	.	.	0.43011	0.77868	T	-0.0107486	0.50162	T	0.206236	0.83467	D	0.252943754196167	0.23004	T	0.939406	0.78031	D	0.93062454	0.94300	0.9138477	0.95962	0.93062454	0.94300	0.9138477	0.95963	-11.766	0.83692	D	.	.	0.914	0.85022	P	.;.	.;.	3.377705	0.46710	22.3	0.99751819565832711	0.84305	0.99214	0.92914	D	AEFBI	0.914545	0.87806	D	0.788223455836083	0.85362	8.553761	0.593143958142618	0.74444	6.138645	0.999998610390679	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	5.783000	0.68630	.	.	0.605000	0.46263	0.976000	0.34826	0.962000	0.29361	0.049000	0.15107	0.0:0.0:0.0:1.0	13.767	0.62488	18	0.98631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.009511	0.005848	0.050000	0.000000	0.003049	0.000000	0.02632	5876.33	150	chr5	140803137	.	T	C	5876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=3003;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.715;SOR=0.548	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	18	0	1	0
chr5	140803548	140803548	A	T	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.A2351T:p.D784V,PCDHA3:NM_031497:exon1:c.A2351T:p.D784V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0102192624562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.169	0.41742	T	0.001	0.07471	B	0.005	0.11217	B	0.437426	0.12670	U	0.634660	0.999998	0.08975	N	1.435	0.35949	L	2.64	0.12780	T	-4.07	0.74661	D	0.222	0.42834	-0.9961	0.31001	T	0.023	0.09650	T	10	0.08733842	0.14933	T	0.010219	0.26500	T	0.157	0.40909	0.16	0.06396	0.344483371355	0.34058	0.11481506340748879	0.11409	.	.	.	.	.	0.157946	0.50077	T	-0.186566	0.22762	T	-0.505765	0.21750	T	0.0745837077729801	0.09279	T	0.367463	0.08589	T	0.20668672	0.42851	0.17177415	0.39384	0.20668672	0.42851	0.17177415	0.39383	-6.168	0.47663	T	.	.	0.102	0.17869	B	.;.	.;.	1.710380	0.21783	15.35	0.92674333708433931	0.22158	0.28022	0.23440	N	AEFDBCI	0.119710	0.23352	N	-0.83121377547404	0.12517	0.6106309	-0.808946842601005	0.14279	0.7452771	0.355094445781977	0.19722	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.23	1.74	0.23636	0.155000	0.16180	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.822000	0.38733	0.7571:0.0:0.2429:0.0	8.665	0.33280	19	0.98577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	39	chr5	140803548	.	A	T	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=851;ExcessHet=0;FS=5.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.738;SOR=1.192	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	140834577	140834577	G	A	exonic	PCDHA7	.	nonsynonymous SNV	PCDHA7:NM_018910:exon1:c.G194A:p.R65Q,PCDHA7:NM_031852:exon1:c.G194A:p.R65Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0166179850864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.121e-05	4.378e-05	2.042e-05	2.2e-05	8.947e-05	1.52e-05	1.324e-05	2.986e-05	1.805e-05	0	8.947e-05	0	2.519e-05	0	0	2.248e-05	1.656e-05	0	5.252e-05	0.0001	5.139e-05	5.37e-05	0.0002	2.555e-05	1.829e-05	2.846e-05	1.858e-05	4.808e-05	0	0	0	0	0	0	7.35e-05	0	0.0002	0.224	0.22053	T	0.129	0.35970	T	0.815	0.45525	P	0.115	0.33681	B	.	.	.	.	1	0.81001	D	1.92	0.51302	L	1.29	0.35775	T	-3.25	0.65972	D	0.231	0.30004	-0.9599	0.39199	T	0.089	0.34188	T	9	0.56581986	0.65044	D	0.016618	0.37963	T	0.146	0.38789	0.788	0.91068	0.635842297619	0.63285	0.49080090766540674	0.49000	.	.	.	.	.	0.038329	0.24799	T	-0.290771	0.09559	T	-0.458477	0.26767	T	0.634730100631714	0.37815	D	0.829517	0.49484	T	0.18533504	0.39891	0.23817071	0.49133	0.18533504	0.39891	0.23817071	0.49132	-7.589	0.59354	D	.	.	0.108	0.20547	B	.;.	.;.	3.633407	0.51480	23.1	0.99823048538448722	0.90590	0.89525	0.50045	D	AEFDBCI	0.605849	0.59641	D	0.175305165616936	0.50016	3.19575	0.184907733387232	0.49021	3.110328	0.605250941963221	0.21760	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.599892	0.37169	0	.	.	4.17	3.27	0.36580	4.999000	0.63678	.	.	-0.186000	0.09761	0.999000	0.42656	0.000000	0.08366	0.106000	0.18562	0.0859:0.0:0.9141:0.0	12.776	0.56829	30	0.98208	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3026.33	35	chr5	140834577	.	G	A	3026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1426;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.567;QD=6.32;ReadPosRankSum=0.297;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	18	0	1	0
chr5	140842109	140842109	A	G	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.A788G:p.K263R,PCDHA8:NM_031856:exon1:c.A788G:p.K263R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00387992274916	0.0003	0.000798722	0.0005	0.0004	8.639e-05	0	0	0.0003	0	0.0017	0.0004334	67	154602	rs525941	0.0004	0.0006	0.0003	0.0006	0.0037	0.0004	0.0004	0.0034	0.0033	0.0001	0.0001	3.826e-05	0.0002	0	0.0012	0.0002	0.0004	0.0037	0.0003	0.0004	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0003	0	6.541e-05	0	0.0006	0	0	0.0003	0	0.0021	0.289	0.15047	T	0.474	0.12957	T	0.001	0.07471	B	0.006	0.14941	B	0.041254	0.23969	N	0.202762	1	0.08975	N	0.34	0.10450	N	4.65	0.01779	T	-0.78	0.23156	N	0.02	0.00445	-0.9118	0.46632	T	0.004	0.01365	T	10	0.016244382	0.00342	T	0.00388	0.09117	T	0.016	0.02506	.	.	0.259272394797	0.25527	0.04833941567793164	0.04776	.	.	.	.	.	0.001721	0.01148	T	-0.730388	0.00024	T	-0.857306	0.00872	T	0.00630767614885262	0.00070	T	0.0969903	0.00718	T	0.02929249	0.02401	0.03536383	0.02775	0.02929249	0.02400	0.03536383	0.02775	-3.11	0.11481	T	.	.	0.055	0.00397	B	.;.	.;.	0.654332	0.10228	6.965	0.96084914752541406	0.28665	0.02974	0.07820	N	AEFDGBCI	0.051215	0.09027	N	-1.12280716308438	0.06239	0.2866647	-1.11730545162989	0.07369	0.3581969	0.00210025299316822	0.09151	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.584449	0.35598	0	.	.	3.73	1.37	0.21200	-1.674000	0.02051	.	.	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.6054:0.0:0.3946:0.0	4.518	0.11351	32	0.98147	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2629.33	173	chr5	140842109	.	A	G	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=2420;ExcessHet=0;FS=1.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.79;MQRankSum=-3.405;QD=12.7;ReadPosRankSum=-0.497;SOR=0.839	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	18	0	1	0
chr5	140842421	140842421	C	T	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.C1100T:p.T367I,PCDHA8:NM_031856:exon1:c.C1100T:p.T367I	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0266040147946	0.001	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs142074942	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0007	0	0	3.745e-05	0.0023	0.0001	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	8.826e-05	0.0024	0	0.006	0.61437	D	0.01	0.70582	D	0.993	0.67487	D	0.942	0.68163	D	0.001964	0.37549	U	0.000000	1	0.81001	D	3.31	0.90591	M	0.35	0.58029	T	-5.73	0.87611	D	0.641	0.65416	-0.3429	0.73759	T	0.329	0.69674	T	10	0.13645485	0.25963	T	0.026604	0.49502	D	0.398	0.71242	.	.	0.767570153291	0.76544	0.46623142669597106	0.46542	.	.	.	.	.	0.089133	0.38307	T	-0.219384	0.18078	T	-0.0934538	0.63901	T	0.0698950236669835	0.08636	T	0.864814	0.56255	D	0.5285738	0.68750	0.5590209	0.74488	0.5285738	0.68751	0.5590209	0.74488	-11.176	0.81246	D	.	.	0.277	0.51050	B	.;.	.;.	3.481322	0.48618	22.6	0.99821457333126595	0.90414	0.89902	0.50675	D	AEFDGBCI	0.466319	0.51402	N	0.293513188981482	0.55819	3.746027	0.134735302186989	0.46336	2.881423	0.961409727576456	0.28552	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.57	3.57	0.40014	2.700000	0.46753	.	.	0.465000	0.21702	0.981000	0.35396	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	15.579	0.76157	32	0.98147	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.010101	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	5107.33	173	chr5	140842421	.	C	T	5107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.237;DP=2691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.59;MQRankSum=0.025;QD=12.13;ReadPosRankSum=-0.694;SOR=0.653	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	18	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	4116.41	162	chr5	140848613	.	G	A	4116.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=5.12;DP=2163;ExcessHet=0.0101;FS=19.807;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.58;MQRankSum=-6.383;QD=12.18;ReadPosRankSum=1.31;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:171,0:171:99:.:.:0,120,1800:.	16	1	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.1053	3598.41	162	chr5	140848623	.	C	A	3598.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.37;DP=2156;ExcessHet=0.0101;FS=13.882;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=58.55;MQRankSum=-7.135;QD=10.94;ReadPosRankSum=-0.588;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:171,0:171:99:.:.:0,120,1800:.	16	1	2	0
chr5	140849019	140849019	A	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.A524G:p.N175S,PCDHA9:NM_031857:exon1:c.A524G:p.N175S	.	430	1084	7	1	0	9	0.00413413	.	.	.	2825267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00457859111907	0.0067	0.00159744	0.0062	0.0018	0.0048	0.0007	0.0035	0.0098	0.0054	0.0009	0.0013447	35	26028	rs144148683	0.0092	0.0095	0.0096	0.0089	0.0113	0.0091	0.0090	0.0111	0.0111	0.0016	0.0037	0.0015	0.0004	0.0036	0.0019	0.0113	0.0064	0.0006	0.0051	0.0057	0.0057	0.0045	0.0093	0.0048	0.0047	0.0087	0.0085	0.0013	0	0.0029	0.0019	0.0008	0.0024	0	0.0093	0.0027	0.0002	0.414	0.17701	T	0.223	0.33219	T	0.051	0.22415	B	0.07	0.27859	B	0.113132	0.19328	N	0.248113	1	0.81001	D	1.24	0.30952	L	0.73	0.50721	T	-2.55	0.59389	D	0.103	0.08646	-0.9829	0.34328	T	0.067	0.27399	T	10	0.006038487	0.00136	T	0.004579	0.11315	T	0.106	0.30130	.	.	0.399596177874	0.39575	0.14593835870146085	0.14515	.	.	.	.	.	0.033316	0.22864	T	-0.606109	0.00134	T	-0.688962	0.06449	T	0.0111972318146314	0.00164	T	0.80032	0.44736	T	0.054480493	0.10457	0.06389361	0.12723	0.054480493	0.10457	0.06389361	0.12722	-5.295	0.39894	T	.	.	0.053	0.00248	B	.;.	.;.	0.988433	0.13663	10.20	0.87836055382102796	0.17517	0.13875	0.18100	N	AEFDGBCI	0.145452	0.26866	N	-0.900258380287799	0.10836	0.5198317	-0.941970033878938	0.11110	0.5639968	0.00175298078908001	0.08850	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.12	-3.55	0.04343	-0.080000	0.11303	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.678000	0.33484	0.3989:0.1107:0.4903:0.0	8.909	0.34700	32	0.98147	Cadherin-like|Cadherin-like;.	PCDHB17P|TMCO6	Adipose_Subcutaneous|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002706	0.005319	0.002717	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1740.33	36	chr5	140849019	.	A	G	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.848;DP=839;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.55;MQRankSum=0.971;QD=10.95;ReadPosRankSum=-1.185;SOR=0.601	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr5	140850693	140850693	C	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C2198G:p.A733G,PCDHA9:NM_031857:exon1:c.C2198G:p.A733G	.	442	1030	45	5	0	55	0.0260047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0005	0.00678914	0.0063	0.0002	0.0015	0.0001	0	0.0007	0.0111	0.0415	0.0054333	840	154602	rs138234390	0.0030	0.0030	0.0018	0.0041	0.0394	0.0029	0.0029	0.0383	0.0378	0.0002	0.0012	0.0014	0.0002	0	0.0105	0.0005	0.0040	0.0394	0.0016	0.0016	0.0010	0.0021	0.0340	0.0014	0.0013	0.0297	0.0280	0.0003	0	0.0015	0.0006	0	0	0.0210	0.0004	0.0014	0.0340	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.006390	0.32067	N	0.000000	0.999999	0.08975	N	-0.99	0.01185	N	2.77	0.11407	T	2.36	0.00310	N	0.083	0.05929	-0.9242	0.44971	T	0.009	0.03403	T	10	0.0024614036	0.00037	T	.	.	.	0.041	0.10877	.	.	0.239305524855	0.23518	0.07940304107957419	0.07875	.	.	.	.	.	1.62E-4	0.00025	T	-0.693607	0.00040	T	-0.819536	0.01462	T	0.00586151255596773	0.00064	T	0.20168	0.03740	T	0.018968089	0.00421	0.046305787	0.06424	0.018968089	0.00421	0.046305787	0.06423	-4.812	0.37939	T	.	.	0.062	0.04041	B	.;.	.;.	-0.193616	0.03122	0.499	0.60644728228370959	0.06513	0.00357	0.01833	N	AEFDBI	0.033054	0.03850	N	-1.5191799375624	0.01723	0.07544431	-1.44704006132078	0.02797	0.1293107	1.79492614263866E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.51	1.5	0.22029	-0.767000	0.04826	.	.	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.476:0.5239:0.0	13.667	0.61877	32	0.98147	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014706	0.005051	0.008264	0.014881	0.050000	0.000000	0.009202	0.045455	0.05263	10500.8	473	chr5	140850693	.	C	G	10500.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=3355;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.191;SOR=0.662	GT:AD:DP:GQ:PL	0/0:180,0:180:99:0,120,1800	17	0	2	0
chr5	140884535	140884535	C	G	exonic	PCDHA13	.	nonsynonymous SNV	PCDHA13:NM_018904:exon1:c.C2267G:p.P756R,PCDHA13:NM_031865:exon1:c.C2267G:p.P756R	.	419	1053	49	1	0	51	0.0236439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0004	0.00678914	0.0061	0.0002	0.0015	0.0002	0	0.0007	0.0100	0.0400	0.0052328	809	154602	rs142468733	0.0028	0.0028	0.0018	0.0039	0.0378	0.0028	0.0027	0.0367	0.0363	0.0002	0.0011	0.0012	0.0002	0	0.0097	0.0004	0.0037	0.0378	0.0015	0.0015	0.0010	0.0021	0.0328	0.0014	0.0013	0.0286	0.0270	0.0003	0	0.0014	0.0006	0	0	0.0205	0.0004	0.0014	0.0328	0.432	0.09486	T	0.344	0.35840	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.81001	D	0.49	0.13296	N	2.9	0.10101	T	1.29	0.00961	N	0.129	0.20262	-0.9477	0.41364	T	0.015	0.05897	T	9	0.0030344129	0.00050	T	.	.	.	0.022	0.04323	.	.	0.218112801441	0.21410	0.2361661489629874	0.23531	.	.	.	.	.	0.021645	0.16823	T	-0.618442	0.00112	T	-0.631849	0.10275	T	0.00878847322351521	0.00108	T	0.673133	0.30512	T	0.03787378	0.04938	0.0711216	0.15192	0.03787378	0.04938	0.0711216	0.15191	-2.804	0.25364	T	.	.	0.066	0.05404	B	.;.;.	.;.;.	1.321562	0.17257	13.05	0.75508712818316182	0.11102	0.24498	0.22412	N	AEFDBCI	0.157813	0.28338	N	-0.853937309411729	0.11953	0.5798126	-0.702588075416452	0.16896	0.8959734	0.0341342033371972	0.14140	0.475244	0.09938	2	0.573888	0.26702	0	0.641878	0.46077	1	0.613276	0.41899	0	.	.	4.61	2.02	0.25641	1.128000	0.30982	.	.	-0.045000	0.17359	0.036000	0.20778	0.655000	0.25985	0.707000	0.34357	0.5736:0.4264:0.0:0.0	11.497	0.49662	74	0.96871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014617	0.005051	0.006793	0.017544	0.050000	0.000000	0.009202	0.045455	0.05263	3341.83	147	chr5	140884535	.	C	G	3341.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=988;ExcessHet=0.119;FS=0.904;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.982;SOR=0.62	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr5	141052496	141052499	CAAT	-	exonic	PCDHB1	.	frameshift deletion	PCDHB1:NM_013340:exon1:c.1026_1029del:p.N343Lfs*4	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189184342	2.052e-05	2.052e-05	1.497e-05	2.613e-05	2.608e-05	1.456e-05	1.264e-05	1.83e-05	1.582e-05	0	2.236e-05	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3004.29	36	chr5	141052495	.	ACAAT	A	3004.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=831;ExcessHet=0;FS=5.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.655;SOR=0.394	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1620	18	0	1	0
chr5	141053041	141053041	C	T	exonic	PCDHB1	.	nonsynonymous SNV	PCDHB1:NM_013340:exon1:c.C1571T:p.A524V	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0082	0.00678914	0.0081	0.0020	0.0198	0.0001	0.0074	0.0091	0.0066	0.0043	0.0090102	1393	154602	rs17208383	0.0100	0.0100	0.0101	0.0098	0.0236	0.0098	0.0098	0.0224	0.0219	0.0021	0.0236	0.0026	0.0005	0.0075	0.0069	0.0107	0.0094	0.0052	0.0077	0.0076	0.0080	0.0072	0.0194	0.0073	0.0071	0.0176	0.0169	0.0022	0	0.0194	0.0026	0.0002	0.0046	0	0.0101	0.0066	0.0027	0.05	0.39575	D	0.085	0.41074	T	0.999	0.77913	D	0.977	0.73820	D	0.000456	0.44317	D	0.000000	0.837724	0.35017	D	0.9	0.23182	L	0.69	0.51714	T	-2.5	0.54382	D	0.234	0.26354	-0.6903	0.60894	T	0.132	0.44307	T	10	0.0059432685	0.00133	T	.	.	.	0.160	0.41473	.	.	0.769374521287	0.76726	0.10760205720526275	0.10689	1.17497726042	0.79854	0.430432468653	0.29267	T	0.034226	0.23238	T	-0.494142	0.00617	T	-0.464324	0.26130	T	0.0322874919785174	0.02352	T	0.548745	0.18852	T	0.15575531	0.35185	0.18585645	0.41724	0.15575531	0.35184	0.18585645	0.41723	-3.787	0.20610	T	.	.	0.114	0.22825	B	.	.	3.727231	0.53295	23.3	0.9988593029234758	0.96126	0.52797	0.29217	D	AEFBI	0.467900	0.51493	N	0.407962609503157	0.61859	4.392871	0.384604240781918	0.60614	4.251	0.958661365259515	0.28377	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	-0.203000	0.09440	.	.	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.2539:0.7461:0.0:0.0	13.391	0.60270	223	0.91367	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.001359	0.020468	0.000000	0.000000	0.003049	0.003788	0.02632	2068.33	36	chr5	141053041	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.525;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.666;SOR=0.718	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1620	18	0	1	0
chr5	141095628	141095628	T	C	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.T838C:p.S280P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0015	0.00239617	0.0005	0.0054	0	0	0	0	0	0	0.0004592	71	154602	rs141503134	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0055	0.0053	0.0062	0.0002	0	0	0	0	7.194e-06	0.0003	1.159e-05	0.0016	0.0016	0.0017	0.0016	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0006	0	0	0	0	1.47e-05	0.0019	0	0.004	0.65419	D	0.011	0.64786	D	0.992	0.64738	D	0.905	0.64260	P	.	.	.	.	0.996198	0.23088	N	2.695	0.78878	M	0.56	0.54540	T	-3.89	0.72820	D	0.455	0.49237	-0.6877	0.61015	T	0.361	0.72231	T	9	0.0117914975	0.00256	T	.	.	.	0.207	0.49555	.	.	0.438701194649	0.43488	0.35442614680974843	0.35356	.	.	0.329510092735	0.14859	T	0.071646	0.34258	T	-0.375825	0.03309	T	-0.310981	0.43552	T	0.0857660051821816	0.10707	T	0.0857914	0.00629	T	0.62185293	0.73862	0.7516595	0.85321	0.62185293	0.73864	0.7516595	0.85322	-13.202	0.90177	D	.	.	0.500	0.64577	A	.	.	2.229305	0.28453	17.80	0.99805651365011072	0.88995	0.18389	0.20240	N	AEFDBCI	0.353873	0.44615	N	0.135301682316245	0.48115	3.028082	-0.0578000188132546	0.37154	2.17166	0.991837927928191	0.32625	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.616125	0.45549	0	.	.	5.42	1.54	0.22290	-2.144000	0.01383	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.5236:0.0:0.1164:0.36	7.147	0.24767	460	0.78750	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2497.33	33	chr5	141095628	.	T	C	2497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=1082;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.158;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	18	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.07895	12840.8	414	chr5	141096081	.	C	A	12840.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.79;DP=2152;ExcessHet=0.3672;FS=1.104;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.2;MQRankSum=3.72;QD=12.1;ReadPosRankSum=0.645;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	16	0	3	0
chr5	141096699	141096699	G	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.G1909A:p.A637T	.	17	1499	6	0	0	6	0.00199734	.	.	.	2825299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0134199571692	0.0043	0.00119808	0.0041	0.0010	0.0004	0	0.0030	0.0066	0.0023	0.0015	0.0036739	568	154602	rs148561261	0.0046	0.0045	0.0045	0.0046	0.0054	0.0045	0.0044	0.0053	0.0052	0.0014	0.0014	0.0012	0	0.0039	0.0024	0.0054	0.0033	0.0012	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0008	0.0012	0.0002	0.0030	0	0.0068	0.0043	0.0008	0.068	0.35726	T	0.062	0.45318	T	0.906	0.49993	P	0.382	0.43908	B	.	.	.	.	0.983147	0.24908	N	1.08	0.27187	L	0.76	0.49919	T	-3.15	0.64132	D	0.05	0.02179	-1.0097	0.27012	T	0.073	0.29483	T	9	0.0050607026	0.00109	T	0.01342	0.32810	T	0.112	0.31546	.	.	0.324436698001	0.32047	0.35017845745850656	0.34931	.	.	0.625871896744	0.56559	T	0.019443	0.15489	T	-0.535155	0.00358	T	-0.534098	0.18880	T	0.0293005209603354	0.01883	T	0.751925	0.37414	T	0.0391288	0.05343	0.09096869	0.21362	0.0391288	0.05343	0.09096869	0.21362	-8.116	0.61859	D	.	.	0.078	0.06896	B	.	.	1.872194	0.23783	16.15	0.99487504716836395	0.67235	0.15624	0.19002	N	AEFDI	0.099049	0.19946	N	-0.130072187437732	0.36087	2.081258	-0.176970563673101	0.32385	1.841958	2.13935557758401E-5	0.03498	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.586402	0.36253	0	.	.	4.16	4.16	0.48138	0.106000	0.15191	.	.	-0.336000	0.05739	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0943:0.0:0.7258:0.1798	6.577	0.21771	465	0.78421	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002179	0.000000	0.000000	0.000000	0.000000	0.000000	0.003268	0.011719	0.02632	1709.33	44	chr5	141096699	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1123;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-1.561;QD=12.3;ReadPosRankSum=-1.344;SOR=0.801	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1723,0,1908	18	0	1	0
chr5	141097033	141097033	C	T	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C2243T:p.S748F	.	404	1113	5	0	0	5	0.00224115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0468277203419	.	.	0.0001	0	0	0	0	1.588e-05	0.0012	0.0008	.	.	.	rs782468154	5.473e-05	5.472e-05	2.587e-05	8.39e-05	0.0008	4.477e-05	4.148e-05	0.0007	0.0006	0	0	0	0	9.363e-05	0	0	8.28e-05	0.0008	5.252e-05	5.249e-05	2.57e-05	8.054e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	0	0	0.0015	0.031	0.45039	D	0.707	0.67890	T	0.094	0.25382	B	0.077	0.28532	B	.	.	.	.	0.851122	0.28495	N	3.315	0.90654	M	0.62	0.53302	T	-5.68	0.87223	D	0.237	0.26717	-0.7670	0.57022	T	0.206	0.56499	T	9	0.089785814	0.15585	T	0.046828	0.62639	D	0.174	0.44019	0.544	0.65731	0.33440975612	0.33058	0.3600758376376308	0.35921	.	.	0.474707365036	0.35329	T	0.096	0.39797	T	-0.325145	0.06485	T	-0.32777	0.41717	T	0.335326670790338	0.26438	T	0.836316	0.50742	T	0.76955175	0.82021	0.63810533	0.78865	0.76955175	0.82023	0.63810533	0.78866	-10.959	0.79433	D	.	.	0.193	0.41326	B	.;.	.;.	3.098864	0.41754	21.4	0.99692437213491913	0.80044	0.52959	0.29256	D	AEFI	0.282284	0.39566	N	-0.225080358407079	0.32106	1.807234	-0.252073421290775	0.29699	1.666079	2.11094650041447E-4	0.05948	0.660085	0.49399	0	0.573888	0.26702	0	0.662677	0.59975	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	0.390000	0.20494	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.8395:0.1605:0.0	13.201	0.59189	466	0.78352	Cadherin, cytoplasmic C-terminal domain;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001058	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003788	0.02632	3334.33	44	chr5	141097033	.	C	T	3334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=1312;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.51;MQRankSum=-1.031;QD=16.76;ReadPosRankSum=-0.906;SOR=0.769	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.07895	3350.79	99	chr5	141122851	.	G	C	3350.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.065;DP=1516;ExcessHet=0.3672;FS=5.845;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.865;SOR=0.597	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	16	0	3	0
chr5	141122905	141122905	A	-	exonic	PCDHB4	.	frameshift deletion	PCDHB4:NM_018938:exon1:c.907delA:p.K305Nfs*12	.	418	1103	1	0	0	1	0.000453104	.	.	.	181417	Microcephaly|Epilepsy|Intellectual_disability|Seizure|not_provided	Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0	0.0003	0	0.0004	0	0.0001	3.84e-05	1	26028	rs1324449149	6.858e-05	0.0001	6.754e-05	6.964e-05	0.0002	5.742e-05	5.327e-05	0.0001	8.925e-05	0.0002	0.0001	7.826e-05	0.0002	0	0	6.075e-05	3.358e-05	7.193e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0	0	0.0006	0	0.0034	4.431e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1278.29	101	chr5	141122904	.	GA	G	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=1506;ExcessHet=0;FS=3.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.083;SOR=0.493	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr5	141122980	141122980	G	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G982A:p.G328R	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.052598582816	.	.	0.0001	0	0	0	0	1.508e-05	0.0011	0.0007	9.06e-05	14	154602	rs782700071	5.406e-05	5.404e-05	2.588e-05	8.254e-05	0.0008	4.412e-05	4.084e-05	0.0007	0.0006	0	0	0	0	0	0	8.995e-07	8.281e-05	0.0008	4.599e-05	4.594e-05	2.57e-05	6.72e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.02	0.49613	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.965821	0.38492	D	2.165	0.60562	M	0.57	0.54347	T	-7.0	0.93697	D	0.268	0.30347	-0.2395	0.76639	T	0.342	0.70737	T	9	0.12027916	0.22779	T	0.052599	0.65133	D	0.241	0.54641	0.705	0.84145	0.230578612272	0.22657	0.4164383406200926	0.41559	.	.	0.448687821627	0.31765	T	0.033371	0.22885	T	-0.372208	0.03483	T	-0.392933	0.34208	T	0.835299670696259	0.48948	D	0.976002	0.91601	D	0.76566976	0.81789	0.72348374	0.83669	0.76566976	0.81790	0.72348374	0.83670	-8.164	0.62182	D	.	.	0.249	0.48397	B	.	.	3.701999	0.52801	23.3	0.99887023095407279	0.96204	0.18574	0.20316	N	AEFBI	0.248962	0.36927	N	0.338942500204016	0.58159	3.986533	0.200320837619975	0.49865	3.184743	0.0137217092314966	0.12502	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.41	3.53	0.39533	1.200000	0.31854	.	.	0.590000	0.31872	0.102000	0.22834	0.036000	0.21445	0.989000	0.64315	0.0791:0.0:0.9209:0.0	13.063	0.58426	520	0.74355	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1723.33	101	chr5	141122980	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=1537;ExcessHet=0;FS=3.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.299;SOR=0.459	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr5	141137679	141137679	C	A	exonic	PCDHB5	.	nonsynonymous SNV	PCDHB5:NM_015669:exon1:c.C2245A:p.H749N	.	401	1113	8	0	0	8	0.00358102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00918555014592	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	0.0001294	20	154602	rs782616149	0.0001	0.0001	8.576e-05	0.0001	0.0005	0.0001	9.767e-05	0.0004	0.0003	2.987e-05	2.236e-05	0.0004	0	0	0.0005	9.622e-05	9.934e-05	0.0005	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	9.896e-05	2.404e-05	0	0	0.0003	0	0	0	0.0002	0	0.0006	0.001	0.78490	D	0.464	0.12456	T	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	0.83	0.47815	T	-0.02	0.07299	N	0.058	0.02964	-1.0605	0.11632	T	0.061	0.25492	T	9	0.07078919	0.10347	T	0.009186	0.24154	T	0.193	0.47281	.	.	0.372087925617	0.36815	0.124949098813865	0.12420	0.288833652851	0.31292	0.455118775368	0.32643	T	.	.	.	-0.535034	0.00359	T	-0.678355	0.07084	T	0.061992145496863	0.07479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.	.	2.455745	0.31631	18.80	0.79443278750395696	0.12744	0.10812	0.16209	N	AEFBI	0.101539	0.20391	N	-0.65459406726655	0.17327	0.8906324	-0.532277929206989	0.21279	1.150355	0.00182713264600045	0.08920	0.553676	0.25195	0	0.547309	0.14657	0	0.489635	0.07774	0	0.620846	0.47308	0	.	.	4.56	4.56	0.55644	-0.015000	0.12572	.	.	0.499000	0.22661	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.7762:0.1431:0.0807	9.699	0.39341	554	0.71839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3818.33	35	chr5	141137679	.	C	A	3818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=1048;ExcessHet=0;FS=1.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.866;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	18	0	1	0
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1117.17	226	chr5	141173766	.	G	A	1117.17	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	./.:159,0:159:0:0,0,2997	10	0	2	7
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	./.:159,0:159:0:0,0,2997	6	0	6	7
chr5	141174246	141174246	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G1411C:p.G471R	.	361	1128	33	0	0	33	0.0144168	.	.	.	2825306	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0164363675078	0.0031	0.00239617	0.0041	0.0005	0.0012	0	0.0014	0.0046	0.0055	0.0091	0.0036934	571	154602	rs71583630	0.0039	0.0039	0.0036	0.0042	0.0114	0.0038	0.0038	0.0090	0.0082	0.0009	0.0011	0.0103	2.519e-05	0.0020	0.0114	0.0037	0.0039	0.0089	0.0028	0.0028	0.0030	0.0026	0.0077	0.0026	0.0025	0.0057	0.0050	0.0006	0	0.0015	0.0092	0.0004	0.0013	0.0068	0.0041	0.0038	0.0077	0.008	0.58626	D	0.193	0.28210	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	3.61	0.04446	T	-7.82	0.95977	D	0.753	0.75192	-1.0933	0.05005	T	0.041	0.17488	T	9	0.014421403	0.00303	T	0.016436	0.37697	T	0.109	0.30843	.	.	0.501247319706	0.49760	0.39475670066175056	0.39390	0.497184019327	0.48212	0.66754424572	0.62487	T	0.103401	0.41202	T	-0.483557	0.00705	T	-0.461541	0.26431	T	0.0499114695675841	0.05485	T	0.814619	0.46840	T	0.659269	0.75860	0.68884367	0.81695	0.659269	0.75861	0.68884367	0.81696	-11.661	0.83161	D	.	.	0.732	0.74304	P	.	.	3.083277	0.41486	21.4	0.99835576582851426	0.91714	0.14876	0.18631	N	AEFDBI	0.129794	0.24810	N	0.345615472362603	0.58507	4.023498	0.187762801501309	0.49175	3.12396	0.0762146898005401	0.15720	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	3.56	0.39892	0.522000	0.22617	.	.	0.667000	0.69007	0.001000	0.13787	0.000000	0.08366	0.893000	0.43066	0.0857:0.0:0.7537:0.1606	7.711	0.27845	654	0.62520	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3391.33	187	chr5	141174246	.	G	C	3391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=3993;ExcessHet=0;FS=2.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=-1.08;QD=11.19;ReadPosRankSum=-1.19;SOR=0.808	GT:AD:DP:GQ:PL	0/0:200,0:200:99:0,120,1800	18	0	1	0
chr5	141179037	141179037	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1003A:p.L335M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0104	0.00778754	0.0029	0.0327	0.0007	0	0	7.492e-05	0.0011	0	0.0027167	420	154602	rs7700858	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0008	0	0	0	0.0012	2.788e-05	0.0017	6.956e-05	0.0087	0.0088	0.0090	0.0083	0.0304	0.0083	0.0081	0.0291	0.0285	0.0304	0	0.0028	0	0	0	0	5.879e-05	0.0043	0.0002	0.033	0.44358	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.64	0.01799	T	-0.71	0.20145	N	0.327	0.36779	-0.9633	0.38547	T	0.003	0.00961	T	9	0.0042194426	0.00084	T	.	.	.	0.032	0.07718	.	.	0.264081493735	0.26024	0.009740665806931805	0.00936	0.307721486312	0.33067	0.358101963997	0.19109	T	.	.	.	-0.691263	0.00041	T	-0.74066	0.03863	T	0.00452223462958757	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18414	B	.	.	1.531985	0.19653	14.37	0.98835475575925213	0.47035	0.01446	0.04850	N	AEFDGBI	0.068001	0.13394	N	-0.731732855537774	0.15133	0.760053	-0.858413263038488	0.13085	0.6768825	0.0456891990770014	0.14661	0.59774	0.34471	0	0.547309	0.14657	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.25	-0.176	0.12658	-4.407000	0.00274	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.0:0.3848:0.2733:0.3419	4.856	0.12920	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2341.33	166	chr5	141179037	.	C	A	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.405;DP=5138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=-0.424;QD=2.28;ReadPosRankSum=-1.849;SOR=0.607	GT:AD:DP:GQ:PL	0/0:489,0:489:99:0,120,1800	18	0	1	0
chr5	141180333	141180333	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C2299A:p.L767I	.	433	126	416	533	14	1496	0.854671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0157502002775	.	0.00139776	0.0021	0.0002	0.0035	0	0	0.0028	0.0022	0.0012	0.0019793	306	154602	rs2740583	0.0024	0.0024	0.0023	0.0024	0.0044	0.0023	0.0023	0.0031	0.0029	0.0002	0.0036	0.0037	0	0.0002	0.0044	0.0026	0.0024	0.0015	0.0017	0.0017	0.0016	0.0017	0.0042	0.0015	0.0014	0.0034	0.0031	0.0003	0	0.0042	0.0014	0.0002	9.484e-05	0.0136	0.0022	0.0019	0.0021	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	0.08658171	0.14730	T	.	.	.	.	.	.	.	.	.	0.04216645308251248	0.04161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01960	B	.	.	1.975943	0.25099	16.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.368000	0.43875	.	.	-0.108000	0.15293	0.359000	0.25834	0.992000	0.31684	0.001000	0.02609	.	.	.	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	42270.7	106	chr5	141180333	.	C	A	42270.7	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.159;DP=2074;ExcessHet=2.8258;FS=0.614;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-0.017;SOR=0.752	GT:AD:DP:GQ:PL	0/0:67,0:121:99:1409,1610,3388	17	0	2	0
chr5	141184048	141184048	C	T	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.C1489T:p.H497Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00222974185896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.841e-07	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	0.542504	0.05322	N	1.350290	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.14	0.13911	-0.9468	0.41515	T	0.012	0.04700	T	10	0.1919395	0.34902	T	0.00223	0.04233	T	.	.	0.392	0.41606	0.505826522194	0.50221	0.10545202690760982	0.10475	.	.	0.448893845081	0.31792	T	.	.	.	-0.239155	0.15456	T	-0.581306	0.14428	T	0.185378936607737	0.19568	T	0.808919	0.45897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.15430	B	.;.	.;.	1.691096	0.21548	15.25	0.96649310382928078	0.30585	0.36805	0.25618	N	AEFBI	0.110316	0.21880	N	-0.237490499398201	0.31607	1.773912	-0.419985883339092	0.24411	1.336593	0.00269442952609593	0.09639	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	2.34	0.28071	0.030000	0.13576	.	.	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1422:0.544:0.2088:0.105	3.786	0.08217	650	0.62973	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000544	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1219.33	54	chr5	141184048	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.162;DP=1165;ExcessHet=0;FS=3.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.29;MQRankSum=-0.218;QD=13.86;ReadPosRankSum=-1.174;SOR=0.154	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr5	141184757	141184757	C	T	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.C2198T:p.P733L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.027758078761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	0.004300	0.33902	N	0.000000	0.999885	0.50402	D	.	.	.	.	.	.	.	.	.	0.361	0.40264	-0.1395	0.79177	T	0.346	0.71099	T	10	0.32060713	0.49434	T	0.027758	0.50530	D	.	.	0.373	0.38503	0.546736107678	0.54328	0.2587576136262513	0.25789	.	.	0.745405673981	0.73768	T	.	.	.	0.0210581	0.54523	T	-0.207528	0.53932	T	0.96295565366745	0.66517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.	.	2.062874	0.26232	17.04	0.99783757553757257	0.87043	0.66574	0.33126	D	AEFDBI	0.323515	0.42569	N	0.115610886318392	0.47191	2.948278	-0.107119931213176	0.35103	2.026872	0.998218399902114	0.36589	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	4.08	4.08	0.46880	2.612000	0.46007	.	.	0.465000	0.21702	0.113000	0.23048	0.000000	0.08366	0.005000	0.06747	0.1704:0.8296:0.0:0.0	12.271	0.54021	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3384.33	46	chr5	141184757	.	C	T	3384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.444;DP=1085;ExcessHet=0;FS=5.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=14.59;ReadPosRankSum=0.161;SOR=0.433	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	18	0	1	0
chr5	141189236	141189236	C	A	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1918A:p.L640M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	1.368e-06	1.369e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.5583691	0.64647	D	.	.	.	.	.	.	.	0.396794106654	0.39292	0.16191503089958484	0.16112	.	.	0.680446684361	0.64333	T	.	.	.	-0.173765	0.24667	T	-0.487378	0.23666	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.60281	A	.	.	3.393506	0.46997	22.4	0.90112001915283069	0.19393	0.93410	0.58143	D	AEFI	.	.	.	.	.	.	.	.	.	0.203071000717056	0.18148	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.649835	0.41757	3.32	3.32	0.37134	1.593000	0.36297	.	.	0.304000	0.19002	0.753000	0.29166	0.000000	0.08366	0.254000	0.23365	0.0:0.8215:0.1784:0.0	11.846	0.51662	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	150	chr5	141189236	.	C	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=2058;ExcessHet=0;FS=6.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.13;MQRankSum=-7.814;QD=12.21;ReadPosRankSum=0.767;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:106:99:.:.:0,120,1800:.	18	0	1	0
chr5	141194351	141194351	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1799T:p.A600V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	.	0.00798722	0.0017	0.0256	0.0006	0	0	5.973e-05	0	0	0.0019978	52	26028	rs534628725	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0009	0	0	0	0.0005	3.42e-05	0.0017	6.973e-05	0.0089	0.0089	0.0092	0.0085	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0030	0	0	0	0	8.836e-05	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.872052	0.35582	D	3.915	0.96218	H	0.12	0.61089	T	-3.77	0.71397	D	0.371	0.41261	0.521	0.90846	D	0.520	0.82086	D	9	0.012220383	0.00264	T	.	.	.	0.385	0.70194	0.911	0.98230	0.88962124309	0.88853	0.3344237743359311	0.33355	.	.	0.627160727978	0.56742	T	0.114175	0.43177	T	-0.32185	0.06747	T	-0.214142	0.53298	T	0.0861729266805892	0.10757	T	0.972103	0.89869	D	0.5056685	0.67426	0.5521903	0.74105	0.5056685	0.67427	0.5521903	0.74105	-11.928	0.84497	D	.	.	0.808	0.77641	P	.	.	3.018391	0.40391	21.2	0.99921621983022568	0.98787	0.63597	0.32139	D	AEFI	0.555293	0.56579	D	0.554340876879688	0.70349	5.488187	0.353241945113823	0.58703	4.042481	0.927753107527927	0.26901	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.43	3.43	0.38372	2.519000	0.45206	.	.	0.420000	0.20791	0.011000	0.18532	0.772000	0.26708	0.293000	0.24333	0.0:1.0:0.0:0.0	15.076	0.71746	670	0.60992	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002398	0.000000	0.005618	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1672.33	70	chr5	141194351	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.325;DP=1111;ExcessHet=0;FS=4.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.66;MQRankSum=2.41;QD=13.94;ReadPosRankSum=0.333;SOR=0.481	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,112,1663	18	0	1	0
chr5	141209662	141209662	T	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.T755G:p.L252R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00440904900943	0.0014	0.00159744	0.0004	0.0032	0.0009	0	0	0.0001	0	0	0.0003816	59	154602	rs144462785	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0043	0.0004	0	2.519e-05	0	0.0009	5.396e-05	0.0005	8.115e-05	0.0012	0.0012	0.0012	0.0012	0.0035	0.0011	0.0010	0.0030	0.0028	0.0035	0	0.0020	0	0	0	0	0.0001	0.0019	0.0004	0.119	0.28026	T	0.257	0.23231	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	4.65	0.01779	T	0.21	0.04776	N	0.092	0.07125	-0.8957	0.48418	T	0.005	0.01506	T	9	0.009988278	0.00224	T	0.004409	0.10781	T	0.011	0.01250	.	.	0.0611884634855	0.05136	0.04597660912678614	0.04541	0.286669972311	0.31060	0.264499992132	0.05438	T	0.001739	0.01167	T	-0.643863	0.00079	T	-0.698161	0.05926	T	0.00177542081647231	0.00018	T	0.0637936	0.00464	T	0.07739511	0.17565	0.087317914	0.20287	0.07739511	0.17564	0.087317914	0.20286	-5.575	0.42563	T	.	.	0.067	0.02399	B	.	.	1.096239	0.14803	11.34	0.54465595835437197	0.05143	0.05121	0.10926	N	AEFDBI	0.111076	0.22003	N	-1.41997483026141	0.02463	0.108816	-1.43740452797072	0.02886	0.1336096	0.00185977683978748	0.08948	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.16	1.33	0.20958	-1.789000	0.01857	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.1269:0.3889:0.2254:0.2588	1.453	0.02236	692	0.58729	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2405.33	33	chr5	141209662	.	T	G	2405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.987;DP=825;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.286;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	0	1	0
chr5	141210318	141210318	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1411C:p.G471R	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0111	0.00958466	0.0034	0.0341	0.0008	0.0038	0.0002	0.0001	0.0011	0.0001	0.0031694	490	154602	rs145315035	0.0010	0.0010	0.0012	0.0009	0.0341	0.0010	0.0010	0.0324	0.0318	0.0341	0.0011	0	0.0020	1.872e-05	0.0014	0.0001	0.0020	0.0002	0.0091	0.0091	0.0095	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0030	0	0.0027	0	0	8.819e-05	0.0052	0.0004	0.007	0.59928	D	0.341	0.22016	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	3.61	0.04446	T	-7.82	0.95977	D	0.437	0.49146	-1.1054	0.03497	T	0.023	0.09787	T	9	0.006754726	0.00153	T	.	.	.	0.091	0.26358	.	.	0.446913017954	0.44314	0.46290196238067366	0.46209	0.837374831212	0.67867	0.583363950253	0.50560	T	0.11456	0.43247	T	-0.524249	0.00415	T	-0.500061	0.22342	T	0.0780224049285195	0.09732	T	0.791921	0.52631	T	0.5681954	0.70961	0.47368822	0.69494	0.5681954	0.70963	0.47368822	0.69494	-10.783	0.78454	D	.	.	0.627	0.76156	P	.;.	.;.	3.552458	0.49947	22.9	0.99842727283516974	0.92316	0.11205	0.16478	N	AEFBI	0.118241	0.23130	N	0.395162359066995	0.61159	4.313366	0.220928282326697	0.51011	3.287352	0.00829722530760405	0.11648	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	-0.158000	0.10058	.	.	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.0:0.1672:0.6611:0.1717	8.378	0.31614	692	0.58729	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3122.33	98	chr5	141210318	.	G	C	3122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.492;DP=1118;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-0.546;QD=12.24;ReadPosRankSum=0.891;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	0	1	0
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.005051	0.010870	0.005848	0.000000	0.017241	0.021341	0.007576	0.07895	5338.79	176	chr5	141211069	.	C	G	5338.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1296;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.988;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	16	0	3	0
chr5	141214610	141214610	G	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.G487A:p.V163I	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00309687639316	.	.	0.0006	9.713e-05	0.0002	0	0	0.0003	0.0011	0.0031	0.0015368	40	26028	rs2860677	0.0003	0.0006	0.0002	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	0.0002	0.0003	0	7.573e-05	0	0.0009	0.0002	0.0002	0.0022	0.0003	0.0012	0.0003	0.0003	0.0026	0.0002	0.0002	0.0015	0.0012	0.0002	0	0	0	0	9.649e-05	0.0034	0.0003	0	0.0026	0.236	0.17940	T	0.269	0.22426	T	0.014	0.16867	B	0.015	0.17295	B	.	.	.	.	0.997234	0.22740	N	0.57	0.15267	N	0.73	0.50721	T	-0.77	0.21429	N	0.068	0.04072	-1.0529	0.13601	T	0.084	0.32900	T	9	0.014781207	0.00310	T	0.003097	0.06726	T	0.072	0.21020	.	.	0.515659482774	0.51210	0.04680039240838124	0.04623	.	.	0.323091715574	0.13889	T	0.002854	0.02248	T	-0.601168	0.00143	T	-0.641239	0.09579	T	0.0093820320057927	0.00120	T	0.579842	0.20971	T	0.060832992	0.12529	0.048324198	0.07155	0.060832992	0.12528	0.048324198	0.07154	-5.03	0.37164	T	.	.	0.079	0.07507	B	.	.	1.269332	0.16678	12.69	0.98289167614040485	0.39935	0.22572	0.21791	N	AEFDGBI	0.083143	0.16841	N	-0.717268111916646	0.15536	0.7838338	-0.697047521298842	0.17033	0.9039248	0.191406351029646	0.18004	0.623552	0.39893	0	0.588015	0.36545	0	0.576033	0.28219	0	0.579976	0.35079	0	.	.	3.55	3.55	0.39770	0.034000	0.13663	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.744000	0.35576	0.2082:0.203:0.5888:0.0	4.231	0.10054	690	0.58899	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.003788	0.02632	912.33	35	chr5	141214610	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.46;MQRankSum=-13.54;QD=2.9;ReadPosRankSum=2.63;SOR=0.691	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1366	18	0	1	0
chr5	141215723	141215723	T	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.T1600A:p.S534T	.	82	1384	52	4	0	60	0.0212164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00559105	0.0070	0.0004	0.0015	0.0002	0.0042	0.0049	0.0122	0.0277	0.0004592	71	154602	rs142003231	0.0063	0.0063	0.0054	0.0072	0.0274	0.0062	0.0061	0.0265	0.0261	0.0009	0.0019	0.0005	0.0002	0.0040	0.0146	0.0055	0.0058	0.0274	0.0049	0.0048	0.0044	0.0053	0.0279	0.0046	0.0044	0.0241	0.0227	0.0008	0	0.0037	0	0.0004	0.0048	0.0068	0.0066	0.0047	0.0279	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	5.18	0.01178	T	2.2	0.00324	N	0.046	0.01825	-0.9294	0.44227	T	0.001	0.00438	T	9	0.015485257	0.00325	T	.	.	.	0.010	0.01040	.	.	0.124217242631	0.12060	0.09065137351058344	0.08998	.	.	0.637654304504	0.58230	T	9.38E-4	0.00486	T	-0.78454	0.00010	T	-0.879441	0.00658	T	0.00595909488213273	0.00066	T	0.240776	0.03459	T	0.033583492	0.03606	0.040221427	0.04296	0.033583492	0.03606	0.040221427	0.04295	1.445	0.00087	T	.	.	0.063	0.01491	B	.	.	-1.559795	0.00261	0.004	0.44196782515171285	0.03381	0.00237	0.01320	N	AEFBI	0.033532	0.03998	N	-2.08608395626137	0.00137	0.005879442	-2.11890146718901	0.00169	0.007454467	0.443293760168707	0.20471	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.42	-5.84	0.02127	-7.928000	0.00035	.	.	-3.762000	0.00061	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3484:0.0:0.301:0.3505	4.108	0.09516	687	0.59234	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009199	0.005376	0.008152	0.004132	0.000000	0.017241	0.019231	0.003817	0.05263	7178.83	162	chr5	141215723	.	T	A	7178.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.07;DP=1947;ExcessHet=0.119;FS=1.755;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-4.047;QD=20.34;ReadPosRankSum=1.13;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:146,0:146:99:.:.:0,120,1800:.	17	0	2	0
chr5	141215730	141215730	A	G	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.A1607G:p.H536R	.	81	1438	3	0	0	3	0.00104203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00526305384911	0.0041	0.00119808	0.0041	0.0011	0.0004	0	0.0041	0.0064	0.0044	0.0010	0.0036222	560	154602	rs143032971	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0051	0.0013	0.0013	0.0011	2.519e-05	0.0046	0.0009	0.0053	0.0032	0.0009	0.0037	0.0037	0.0038	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0010	0.0012	0.0002	0.0031	0	0.0068	0.0043	0.0006	1.0	0.00964	T	0.697	0.05786	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	4.69	0.01694	T	2.79	0.00173	N	0.008	0.00068	-0.9167	0.45997	T	0.002	0.00585	T	9	0.013176799	0.00280	T	0.005263	0.13433	T	0.016	0.02506	.	.	0.128392430309	0.12331	0.0788298493121079	0.07817	.	.	0.650404930115	0.60043	T	0.00143	0.00891	T	-0.80256	0.00007	T	-0.917637	0.00391	T	0.00205275019088843	0.00021	T	0.135986	0.01074	T	0.024710722	0.01331	0.037174862	0.03315	0.024710722	0.01331	0.037174862	0.03315	0.314	0.00255	T	.	.	0.047	0.00072	B	.	.	-0.191160	0.03136	0.504	0.198603199531626	0.00689	0.00344	0.01781	N	AEFBI	0.032656	0.03729	N	-1.54603822832793	0.01558	0.06805489	-1.52746791754777	0.02135	0.09773543	0.00148769833489548	0.08576	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.42	0.433	0.15747	-1.665000	0.02067	.	.	-0.343000	0.05659	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2748:0.2936:0.4316:0.0	4.743	0.12399	687	0.59234	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001079	0.000000	0.000000	0.000000	0.000000	0.000000	0.003226	0.003817	0.02632	2269.33	149	chr5	141215730	.	A	G	2269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=1905;ExcessHet=0;FS=3.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.82;MQRankSum=-2.423;QD=15.65;ReadPosRankSum=0.004;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,61:145:99:0|1:141215730_A_G:2283,0,3326:141215730	18	0	1	0
chr5	141215752	141215752	C	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.C1629A:p.S543R	.	46	1473	3	0	0	3	0.00101729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0688844477342	0.0038	0.00119808	0.0040	0.0010	0.0004	0	0.0041	0.0064	0.0045	0.0010	0.0038033	588	154602	rs150315174	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0051	0.0013	0.0014	0.0011	0	0.0046	0.0009	0.0053	0.0032	0.0008	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0063	0.0061	0.0009	0	0.0010	0.0012	0.0002	0.0031	0	0.0068	0.0043	0.0006	0.005	0.63226	D	0.003	0.76473	D	0.95	0.53885	P	0.693	0.53889	P	.	.	.	.	0.810166	0.34630	D	3.125	0.87999	M	0.55	0.54728	T	-4.53	0.78388	D	0.345	0.38643	-0.1466	0.79000	T	0.252	0.62142	T	9	0.008018523	0.00182	T	0.068884	0.70575	D	0.189	0.46613	0.767	0.89452	0.722794216926	0.72034	0.5148652395486593	0.51409	.	.	0.80194246769	0.82258	T	0.099836	0.40503	T	-0.376329	0.03286	T	-0.305385	0.44153	T	0.0556316748610866	0.06463	T	0.744226	0.36418	T	0.5328242	0.68991	0.4155244	0.65664	0.5328242	0.68992	0.4155244	0.65664	-11.597	0.82832	D	.	.	0.771	0.75979	P	.	.	2.633642	0.34254	19.57	0.99375267591100624	0.61628	0.58510	0.30661	D	AEFBI	0.380095	0.46286	N	0.00370412569670225	0.42024	2.524301	-0.256468538450222	0.29550	1.656388	0.167296654406409	0.17683	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	3.0	3.0	0.33773	0.287000	0.18678	.	.	0.304000	0.19002	0.000000	0.06391	0.000000	0.08366	0.154000	0.20445	0.0:0.887:0.0:0.113	9.643	0.39013	687	0.59234	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001075	0.000000	0.000000	0.000000	0.000000	0.000000	0.003205	0.003817	0.02632	2149.33	149	chr5	141215752	.	C	A	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.99;MQRankSum=-2.191;QD=16.04;ReadPosRankSum=-0.321;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,58:134:99:0|1:141215730_A_G:2163,0,3007:141215730	18	0	1	0
chr5	141215958	141215958	T	C	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.T1835C:p.L612P	.	23	1497	2	0	0	2	0.000667557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00559187242214	.	0.00139776	0.0012	0.0011	0.0012	0.0015	0	0.0003	0	0.0052	0.0004226	11	26028	rs558168940	0.0005	0.0008	0.0003	0.0006	0.0055	0.0004	0.0004	0.0051	0.0049	2.997e-05	0.0008	0.0003	0.0004	8.06e-05	0.0015	0.0001	0.0003	0.0055	0.0006	0.0007	0.0005	0.0007	0.0087	0.0005	0.0005	0.0066	0.0059	0.0002	0	0.0007	0.0009	0.0004	9.413e-05	0	0.0004	0.0009	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.961486	0.38238	D	-1.485	0.00523	N	0.74	0.50459	T	8.79	0.00000	N	0.057	0.02861	-0.9840	0.34069	T	0.034	0.14726	T	9	0.008612841	0.00195	T	0.005592	0.14439	T	0.102	0.29158	0.568	0.69034	0.265929055128	0.26215	0.2419738348692673	0.24111	.	.	0.609431385994	0.54235	T	0.001238	0.00725	T	-0.621413	0.00108	T	-0.684408	0.06718	T	0.00391296264876428	0.00041	T	0.425957	0.11436	T	0.055649526	0.10844	0.13838279	0.33049	0.055649526	0.10843	0.13838279	0.33048	3.116	0.00019	T	.	.	0.029	0.00001	B	.	.	0.021707	0.04434	1.164	0.30311040429097369	0.01651	0.00327	0.01711	N	AEFBI	0.050578	0.08853	N	-1.86313562830089	0.00408	0.01755657	-1.69262331141643	0.01170	0.05265714	0.00561670425533724	0.10993	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.3	2.42	0.28720	-0.484000	0.06608	.	.	-3.148000	0.00117	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8615:0.0:0.1385	10.578	0.44427	686	0.59327	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	291.33	142	chr5	141215958	.	T	C	291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.162;DP=1435;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.24;MQRankSum=-4.346;QD=4.62;ReadPosRankSum=0.221;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr5	141224029	141224029	A	G	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.A524G:p.N175S	.	431	1071	20	0	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	7.7e-05	0.00399361	0.0034	0.0002	8.64e-05	0.0001	0	0.0003	0.0033	0.0237	0.0029883	462	154602	rs200378467	0.0015	0.0015	0.0009	0.0022	0.0221	0.0015	0.0015	0.0213	0.0210	2.991e-05	0.0002	0.0010	0.0002	0	0.0042	0.0001	0.0020	0.0221	0.0008	0.0008	0.0005	0.0011	0.0190	0.0007	0.0006	0.0159	0.0147	7.217e-05	0	0.0007	0.0006	0	0	0.0034	0.0002	0.0019	0.0190	0.049	0.39820	D	0.064	0.44905	T	0.966	0.56202	D	0.573	0.49966	P	.	.	.	.	0.95908	0.26200	N	1.86	0.49225	L	0.73	0.50721	T	-4.55	0.78553	D	0.171	0.37197	-0.7585	0.57487	T	0.297	0.66830	T	9	0.0061300397	0.00138	T	.	.	.	0.232	0.53354	.	.	0.741568591866	0.73925	0.04510056476940279	0.04454	0.275151034729	0.29997	0.2640440166	0.05381	T	0.043956	0.26664	T	-0.616578	0.00115	T	-0.640862	0.09606	T	0.0627792979981834	0.07599	T	0.856914	0.54589	D	0.13261251	0.30873	0.1652232	0.38233	0.13261251	0.30873	0.1652232	0.38233	-5.898	0.49603	T	.	.	0.072	0.07937	B	.;.	.;.	2.168090	0.27628	17.53	0.98286689661757454	0.39907	0.94622	0.61769	D	AEFBI	0.343104	0.43903	N	0.19959961650068	0.51179	3.301366	0.128840942202755	0.46030	2.855851	0.341564612655079	0.19589	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.02	1.2	0.20181	2.515000	0.45172	.	.	0.756000	0.94297	0.943000	0.32764	0.000000	0.08366	0.993000	0.69303	0.6983:0.1444:0.1573:0.0	5.639	0.16829	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.001359	0.008772	0.000000	0.008621	0.009146	0.018939	0.02632	2249.33	191	chr5	141224029	.	A	G	2249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.44;DP=829;ExcessHet=0;FS=0.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.311;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	141224354	141224354	T	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.T849A:p.H283Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00438423606058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.481e-06	5.472e-06	4.089e-06	6.888e-06	0.0002	2.36e-06	1.7e-06	4.097e-05	2.383e-05	0.0001	0	0	0	0	0.0002	1.8e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.14	0.04484	N	0.84	0.47477	T	-1.14	0.29323	N	0.111	0.26957	-0.9978	0.30535	T	0.034	0.14596	T	9	0.04085371	0.02690	T	0.004384	0.10687	T	0.071	0.20720	0.209	0.12639	0.341934017632	0.33809	0.06792090402544688	0.06730	0.545865346481	0.51599	0.351763188839	0.18181	T	8.58E-4	0.00427	T	-0.270778	0.11670	T	-0.62673	0.10663	T	0.0655093816127192	0.08007	T	0.559944	0.21248	T	0.051222015	0.09374	0.08190087	0.18649	0.051222015	0.09373	0.08190087	0.18649	-5.055	0.37431	T	.	.	0.147	0.32396	B	.;.	.;.	0.282214	0.06588	3.081	0.29803052225880339	0.01599	0.09238	0.15034	N	AEFBI	0.149099	0.27313	N	-1.17874245565841	0.05321	0.2423335	-1.07008810479523	0.08293	0.407158	7.94347136004398E-5	0.04552	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.61	2.2	0.26966	-1.166000	0.03239	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.2425:0.163:0.1334:0.4611	0.603	0.00700	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1998.33	66	chr5	141224354	.	T	A	1998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.281;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr5	141224364	141224364	G	-	exonic	PCDHB14	.	frameshift deletion	PCDHB14:NM_018934:exon1:c.859delG:p.D287Ifs*17	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.00419329	0.0013	0.0134	8.648e-05	0	0	0.0002	0	6.463e-05	0.0002305	6	26028	rs77544263	0.0005	0.0005	0.0005	0.0004	0.0137	0.0005	0.0004	0.0127	0.0123	0.0137	0.0003	0.0031	0	0	0.0037	4.682e-05	0.0013	2.352e-05	0.0037	0.0037	0.0040	0.0034	0.0126	0.0035	0.0034	0.0118	0.0114	0.0126	0	0.0007	0.0020	0	0	0.0136	0.0001	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007049	0.000000	0.013587	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1953.29	66	chr5	141224363	.	AG	A	1953.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=1.49;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr5	141224648	141224648	G	T	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1143T:p.M381I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00808108224178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.66	0.14633	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.82	0.20857	L	1.05	0.39990	T	-1.48	0.36189	N	0.135	0.16864	-1.0099	0.26949	T	0.043	0.18701	T	9	0.04000929	0.02535	T	0.008081	0.21418	T	0.045	0.12272	0.434	0.48500	0.126345400529	0.12197	0.10552612884405689	0.10482	0.240759502475	0.26611	0.344900548458	0.17168	T	0.025072	0.18822	T	-0.311495	0.07618	T	-0.685217	0.06670	T	0.0320828499865651	0.02319	T	0.833317	0.50212	T	0.07661308	0.17338	0.09684008	0.23025	0.07661308	0.17337	0.09684008	0.23024	-6.396	0.49479	T	.	.	0.186	0.45726	B	.;.	.;.	0.298202	0.06740	3.253	0.77739972851547368	0.12002	0.01693	0.05392	N	AEFDGBI	0.077510	0.15619	N	-1.17825134547643	0.05329	0.2426964	-1.12528211413269	0.07220	0.3503588	2.16280149205619E-4	0.05997	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.67	0.634	0.16889	-3.409000	0.00534	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.3856:0.2691:0.3453	9.237	0.36631	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2899.33	66	chr5	141224648	.	G	T	2899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.93;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.667;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	141247628	141247628	G	T	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G2050T:p.D684Y	.	177	1332	13	0	0	13	0.00485618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0287254289383	0.0033	0.00139776	0.0032	0.0005	0.0024	0	0.0029	0.0048	0.0023	0.0010	0.0028719	444	154602	rs141743374	0.0030	0.0030	0.0030	0.0030	0.0101	0.0029	0.0029	0.0079	0.0071	0.0010	0.0030	0.0150	0	0.0045	0.0101	0.0029	0.0044	0.0008	0.0026	0.0026	0.0024	0.0028	0.0034	0.0024	0.0023	0.0028	0.0027	0.0007	0.0011	0.0034	0.0109	0	0.0040	0.0170	0.0032	0.0047	0.0006	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.95	0.68788	D	.	.	.	.	0.998051	0.22374	N	3.835	0.95663	H	0.7	0.51474	T	-7.61	0.95366	D	0.352	0.39356	-0.5489	0.66829	T	0.377	0.73505	T	9	0.007078141	0.00161	T	0.028725	0.51358	D	0.111	0.31313	.	.	0.803649103353	0.80181	0.6556818062573543	0.65504	1.3502857246	0.84057	0.543659925461	0.44963	T	0.024686	0.18606	T	-0.366967	0.03750	T	-0.300738	0.44646	T	0.0967984223859577	0.12001	T	0.712229	0.32360	T	0.8984929	0.91248	0.8567777	0.91960	0.8984929	0.91250	0.8567777	0.91961	-12.405	0.86768	D	.	.	0.181	0.39373	B	.	.	2.678221	0.34935	19.76	0.99304279186634714	0.58759	0.33648	0.24879	N	AEFDI	0.134589	0.25465	N	0.206021338219787	0.51491	3.329854	-0.0340822715091486	0.38185	2.246229	0.0205938325982936	0.13272	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.25	3.37	0.37692	-0.886000	0.04265	.	.	0.564000	0.28548	0.000000	0.06391	0.000000	0.08366	0.352000	0.25704	0.0:0.0:0.8326:0.1674	12.573	0.55700	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011918	0.026596	0.009537	0.008333	0.000000	0.000000	0.006289	0.007692	0.02632	1999.33	47	chr5	141247628	.	G	T	1999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.39;DP=952;ExcessHet=0;FS=2.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.541;SOR=0.505	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	18	0	1	0
chr5	141247938	141247938	A	G	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.A2360G:p.E787G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00685626559661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.023	0.57104	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.81	0.48460	T	-0.64	0.18670	N	0.082	0.05799	-1.0401	0.17283	T	0.059	0.24649	T	9	0.07284564	0.10928	T	0.006856	0.18121	T	0.036	0.09122	0.314	0.28935	0.36076525451	0.35686	0.27881774181860774	0.27794	0.506412822957	0.48845	0.280564337969	0.07570	T	0.001918	0.01327	T	-0.18095	0.23594	T	-0.497698	0.22587	T	0.169017420100018	0.18514	T	0.385761	0.09460	T	0.058016773	0.11619	0.08663412	0.20084	0.058016773	0.11618	0.08663412	0.20083	-3.303	0.13776	T	.	.	0.089	0.12037	B	.	.	1.978583	0.25134	16.65	0.99391806262508353	0.62383	0.12614	0.17375	N	AEDI	0.060077	0.11394	N	-0.860552241700485	0.11791	0.571003	-0.808758956738646	0.14284	0.7455279	0.0154394010239498	0.12713	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.21	2.7	0.31007	0.350000	0.19818	.	.	0.756000	0.94297	0.000000	0.06391	0.003000	0.18671	0.035000	0.13729	0.6323:0.1464:0.0802:0.1411	2.942	0.05475	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2369.33	47	chr5	141247938	.	A	G	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-0.192;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,108,1620:.	18	0	1	0
chr5	141303078	141303078	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T788C:p.V263A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00604627976138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	0.0001	1.376e-06	0	9.099e-07	0	0	.	.	0	0	0	0	0	0	9.099e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.909	0.02970	T	0.0	0.02946	B	0.002	0.06944	B	0.940851	0.07593	N	1.028430	0.999981	0.18198	N	-0.315	0.03579	N	-1.16	0.78082	T	0.0	0.07008	N	0.026	0.00527	-0.9988	0.30255	T	0.156	0.48721	T	10	0.053597122	0.05576	T	0.006046	0.15787	T	0.135	0.36572	0.289	0.24921	0.350746614512	0.34690	0.13642506644455274	0.13566	0.220082323975	0.24552	0.304845035076	0.11128	T	0.158739	0.50188	T	-0.262087	0.12658	T	-0.614247	0.11642	T	0.027447385072358	0.01608	T	0.0335966	0.00221	T	0.045551173	0.07475	0.03717969	0.03315	0.045551173	0.07474	0.03717969	0.03315	-1.885	0.02775	T	.	.	0.064	0.01668	B	.	.	1.143222	0.15306	11.75	0.24269119381160012	0.01065	0.41932	0.26766	N	AEFDBI	0.036810	0.04965	N	-1.10537611144274	0.06547	0.3016689	-1.03361479304643	0.09051	0.4482181	0.0021261352148235	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.36	0.08610	0.419000	0.20967	.	.	-0.807000	0.03101	0.857000	0.30561	0.000000	0.08366	0.931000	0.46843	0.4458:0.1599:0.3943:0.0	4.755	0.12454	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	35	chr5	141303078	.	A	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.939;DP=1186;ExcessHet=0;FS=105.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=2.15;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,32:178:49:.:.:49,0,5013:.	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,54:173:99:.:.:625,0,3865:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,63:178:99:.:.:1497,0,2704:.	1	0	18	0
chr5	141319675	141319675	T	C	exonic	TAF7	.	nonsynonymous SNV	TAF7:NM_005642:exon1:c.A370G:p.K124E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00773815326677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.128	0.34959	T	0.801	0.45051	P	0.192	0.36449	B	0.000000	0.84330	D	0.048158	0.99996	0.52935	D	1.415	0.35607	L	1.95	0.22474	T	-2.41	0.52938	N	0.456	0.49328	-1.1093	0.03130	T	0.036	0.15509	T	10	0.24390915	0.41613	T	0.007738	0.20536	T	0.242	0.54781	0.45	0.51121	0.202312658747	0.19855	0.41055294476633625	0.40971	1.00253147904	0.74463	0.614577114582	0.54962	T	0.091901	0.38892	T	-0.0265272	0.47920	T	-0.275881	0.47224	T	0.982288479804993	0.74401	D	0.906209	0.66975	D	0.47429624	0.65553	0.47791952	0.69755	0.47429624	0.65554	0.47791952	0.69755	-7.781	0.59567	D	.	.	0.689	0.72524	P	.	.	4.349949	0.66808	25.0	0.99773219977618521	0.86088	0.84271	0.43353	D	AEFBC	0.838737	0.75622	D	0.322051898759201	0.57281	3.894978	0.428214015228985	0.63329	4.564529	0.999999999966186	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.08	5.08	0.68373	7.178000	0.77202	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.147	0.58889	467	0.78285	TAFII55 protein, conserved region|TAFII55 protein, conserved region|TAFII55 protein, conserved region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2051.33	36	chr5	141319675	.	T	C	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.072;DP=768;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.261;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr5	141332423	141332423	T	G	exonic	PCDHGA1	.	nonsynonymous SNV	PCDHGA1:NM_018912:exon1:c.T1739G:p.L580R,PCDHGA1:NM_031993:exon1:c.T1739G:p.L580R	.	9	1512	1	0	0	1	0.000330579	.	.	.	2205043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.00216771107033	.	.	7.483e-05	0	0	0	0	1.512e-05	0	0.0005	5.82e-05	9	154602	rs774677754	6.567e-05	7.388e-05	2.995e-05	0.0001	0.0008	5.495e-05	5.107e-05	0.0006	0.0006	2.987e-05	0	0	0.0003	0	0	1.259e-05	3.312e-05	0.0008	2.634e-05	3.285e-05	0	5.393e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.06944	B	0.000161	0.49130	N	0.000000	0.997262	0.22728	N	-2.43	0.00068	N	0.33	0.58323	T	6.61	0.00005	N	0.112	0.12770	-0.9565	0.39825	T	0.029	0.12453	T	10	0.027876139	0.00926	T	0.002168	0.04071	T	0.112	0.31546	0.745	0.87654	0.238705975628	0.23479	0.12923376339264087	0.12848	0.415421845615	0.42198	.	.	.	0.031139	0.21906	T	-0.500681	0.00567	T	-0.589377	0.13721	T	0.024771388971901	0.01243	T	0.320668	0.13351	T	0.04184353	0.06238	0.10777772	0.25950	0.04184353	0.06238	0.10777772	0.25950	5.288	0.00003	T	.	.	0.038	0.00008	B	.;.	.;.	1.053580	0.14351	10.93	0.14174304093439827	0.00304	0.01073	0.03970	N	AEFBI	0.057185	0.10632	N	-1.51638941149458	0.01741	0.07625998	-1.3084321052749	0.04320	0.2035186	0.0720325911055038	0.15588	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.05	3.18	0.35615	0.090000	0.14865	.	.	-0.741000	0.03665	0.000000	0.06391	0.986000	0.30841	0.018000	0.11154	0.0895:0.0:0.5849:0.3256	6.220	0.19889	474	0.77851	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2216.33	46	chr5	141332423	.	T	G	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=1112;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.81;MQRankSum=-1.418;QD=14.03;ReadPosRankSum=-1.232;SOR=0.788	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr5	141339046	141339046	G	C	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.G75C:p.E25D,PCDHGA2:NM_032009:exon1:c.G75C:p.E25D	.	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00675158033251	.	0.000599042	0.0002	0	0	0	0	0	0	0.0016	0.0001811	28	154602	rs527363897	6.656e-05	6.635e-05	3.409e-05	9.944e-05	0.0010	5.579e-05	5.168e-05	0.0009	0.0008	0	0	0	0	0	0.0002	1.804e-06	6.652e-05	0.0010	4.593e-05	4.592e-05	2.568e-05	6.709e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.282	0.15406	T	0.384	0.15794	T	0.001	0.07471	B	0.008	0.13708	B	0.365989	0.13598	U	0.591113	0.999999	0.08975	N	1.685	0.43254	L	0.77	0.49642	T	-1.44	0.35399	N	0.054	0.07398	-1.0285	0.20940	T	0.082	0.32382	T	10	0.005120158	0.00111	T	0.006752	0.17840	T	0.024	0.04979	0.204	0.11936	0.318540980066	0.31459	0.2191093594477683	0.21826	0.289353320653	0.31346	.	.	.	0.008546	0.07843	T	-0.571379	0.00217	T	-0.639075	0.09737	T	0.0491838790476322	0.05356	T	0.0610939	0.00444	T	0.056756984	0.11210	0.07493409	0.16445	0.056756984	0.11210	0.07493409	0.16444	-5.611	0.42892	T	.	.	0.125	0.26357	B	.;.	.;.	0.670354	0.10390	7.113	0.85853502282594463	0.16154	0.14563	0.18469	N	AEFDBHCI	0.064713	0.12581	N	-1.07182694168346	0.07167	0.3320871	-1.09140403086983	0.07868	0.3845041	0.999010666065721	0.38212	0.455138	0.09556	0	0.547309	0.14657	0	0.505578	0.09266	0	0.56751	0.32155	0	.	.	5.07	0.826	0.17967	-1.660000	0.02075	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.2326:0.1204:0.401:0.246	1.203	0.01774	679	0.60090	.;Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	34	chr5	141339046	.	G	C	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.532;DP=736;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.502;SOR=0.873	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	141340836	141340836	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1865G:p.H622R,PCDHGA2:NM_032009:exon1:c.A1865G:p.H622R	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0248357121544	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005627	87	154602	rs202222956	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0054	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	9.76e-05	0.0035	0.0030	2.428e-05	0	0	0	0	0	0	0	0	0.0051	0.202	0.20230	T	0.305	0.20037	T	0.037	0.33132	B	0.072	0.41976	B	0.000535	0.43581	U	0.000000	1	0.81001	D	1.055	0.26876	L	0.77	0.49642	T	-6.96	0.93509	D	0.21	0.26837	-0.9816	0.34632	T	0.116	0.41097	T	10	0.013607442	0.00288	T	0.024836	0.47825	T	0.181	0.45247	0.738	0.87063	0.774417490788	0.77234	0.3913319132458981	0.39048	0.698038861042	0.60942	.	.	.	0.042081	0.26068	T	-0.464882	0.00916	T	-0.43918	0.28900	T	0.101806587813631	0.12554	T	0.760924	0.38541	T	0.44997874	0.64039	0.5485215	0.73899	0.44997874	0.64040	0.5485215	0.73899	-7.53	0.57891	D	.	.	0.203	0.42777	B	.;.	.;.	3.608472	0.51007	23.0	0.83649887336518924	0.14843	0.95747	0.65982	D	AEFBHI	0.427587	0.49147	N	-0.24227206795838	0.31412	1.761131	-0.147496765560598	0.33505	1.917236	0.0164244057109645	0.12830	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	3.97	0.45241	4.496000	0.60081	.	.	0.686000	0.82685	0.999000	0.42656	1.000000	0.68203	0.478000	0.28520	0.9247:0.0:0.0753:0.0	10.916	0.46348	711	0.56613	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1580.33	34	chr5	141340836	.	A	G	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.097;DP=1034;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=0.321;QD=12.95;ReadPosRankSum=0.287;SOR=0.726	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	141341019	141341019	T	A	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.T2048A:p.I683K,PCDHGA2:NM_032009:exon1:c.T2048A:p.I683K	.	7	1513	2	0	0	2	0.000660502	.	.	.	2281644	not_specified|EBV-positive_nodal_T-_and_NK-cell_lymphoma	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00395116456154	.	0.000199681	0.0002	0.0007	0.0002	0.0001	0.0002	4.504e-05	0.0011	0.0007	1.29e-05	2	154602	rs140187884	0.0001	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0006	0.0005	0.0002	3.827e-05	0.0002	0	0.0010	8.634e-05	0.0001	0.0008	0.0003	0.0004	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0006	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0.0012	0.517	0.07330	T	0.49	0.11551	T	0.0	0.02946	B	0.0	0.01387	B	0.181115	0.03182	N	1.856860	0.999999	0.08975	N	-1.545	0.00469	N	0.95	0.43279	T	2.15	0.00343	N	0.055	0.03069	-1.0607	0.11582	T	0.033	0.14290	T	10	0.018499017	0.00403	T	0.003951	0.09337	T	0.049	0.13647	.	.	0.154104182512	0.14974	0.3519186066863936	0.35105	0.556258514261	0.52292	.	.	.	3.99E-4	0.00124	T	-0.609578	0.00127	T	-0.726381	0.04493	T	0.00725037156498995	0.00083	T	0.00177808	0.00004	T	0.021680482	0.00783	0.079228796	0.17819	0.021680482	0.00783	0.079228796	0.17818	-0.5	0.00583	T	.	.	0.080	0.07745	B	.;.	.;.	0.522464	0.08911	5.693	0.39870179314104187	0.02778	0.00187	0.01088	N	AEFBI	0.025806	0.01829	N	-1.41304730922937	0.02523	0.1115441	-1.33838541483724	0.03945	0.1850628	5.24059232106847E-5	0.04171	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.05	0.786	0.17734	-0.131000	0.10461	.	.	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4841:0.2484:0.1469:0.1205	1.867	0.03006	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000529	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.02632	1306.33	39	chr5	141341019	.	T	A	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.19;DP=1195;ExcessHet=0;FS=6.243;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.14;MQRankSum=-7.541;QD=8.43;ReadPosRankSum=-1.73;SOR=0.519	GT:AD:DP:GQ:PL	0/0:165,0:165:99:0,120,1800	18	0	1	0
chr5	141346011	141346011	C	G	exonic	PCDHGA3	.	nonsynonymous SNV	PCDHGA3:NM_018916:exon1:c.C1978G:p.L660V,PCDHGA3:NM_032011:exon1:c.C1978G:p.L660V	.	12	1502	8	0	0	8	0.00265604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0112362487732	.	0.000399361	0.0020	0.0005	0.0011	0.0008	0.0010	0.0030	0.0012	0.0005	0.0001921	5	26028	rs201663850	0.0016	0.0055	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0004	0.0005	0.0006	0.0001	0.0002	0.0019	0.0010	0.0002	0.0001	0.0002	0.0001	0.0002	0.0004	8.664e-05	7.256e-05	0.0001	7.898e-05	0	0	0.0003	0	0.0004	0	0	0.0002	0	0.0004	0.368	0.11623	T	0.415	0.14326	T	0.025	0.20130	B	0.108	0.35463	B	0.249960	0.15531	U	0.341744	1	0.81001	D	0.675	0.16386	N	0.55	0.54728	T	-1.78	0.42001	N	0.132	0.14622	-1.0205	0.23551	T	0.093	0.35336	T	10	0.017173082	0.00365	T	0.011236	0.28661	T	0.081	0.23632	.	.	0.626812710122	0.62377	0.48724616299732404	0.48644	0.72637774397	0.62510	.	.	.	0.006932	0.06354	T	-0.234225	0.16093	T	-0.574224	0.15064	T	0.0163868849613396	0.00406	T	0.738226	0.39208	T	0.10906483	0.25786	0.10144965	0.24287	0.10906483	0.25786	0.10144965	0.24286	-4.465	0.30428	T	.	.	0.074	0.07507	B	.;.	.;.	1.436983	0.18559	13.80	0.91535529950151895	0.20812	0.17229	0.19746	N	AEFBI	0.093313	0.18882	N	-0.478640912924134	0.22781	1.21889	-0.321958282631181	0.27391	1.519538	0.00585000478085699	0.11059	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.12	4.19	0.48645	-0.303000	0.08249	.	.	0.578000	0.29377	0.000000	0.06391	0.431000	0.24855	0.331000	0.25224	0.1209:0.6637:0.2154:0.0	10.097	0.41655	725	0.54935	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1530.33	33	chr5	141346011	.	C	G	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.57;DP=1168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.87;MQRankSum=-1.077;QD=13.19;ReadPosRankSum=-0.215;SOR=0.69	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1755	18	0	1	0
chr5	141351894	141351894	G	C	exonic	PCDHGB1	.	nonsynonymous SNV	PCDHGB1:NM_018922:exon1:c.G1634C:p.R545P,PCDHGB1:NM_032095:exon1:c.G1634C:p.R545P	.	23	1467	28	4	0	36	0.0121212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0003	0.00259585	0.0016	0	0.0006	0	0	0.0006	0.0011	0.0082	0.0013454	208	154602	rs146243220	0.0008	0.0008	0.0005	0.0011	0.0082	0.0008	0.0008	0.0077	0.0075	8.964e-05	0.0004	0.0025	0	0	0.0052	0.0003	0.0012	0.0082	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.212e-05	0	0.0005	0.0026	0	0	0.0034	0.0004	0.0014	0.0079	0.016	0.51853	D	0.041	0.50514	D	0.997	0.70673	D	0.976	0.74454	D	.	.	.	.	1	0.81001	D	1.255	0.31814	L	0.61	0.53516	T	-4.76	0.80340	D	0.685	0.70351	-0.7106	0.59923	T	0.313	0.68344	T	9	0.0158844	0.00334	T	.	.	.	0.323	0.64522	.	.	0.477529508747	0.47384	0.6928669181275922	0.69226	1.34527031698	0.83966	.	.	.	0.218909	0.58177	T	-0.19705	0.21230	T	-0.0508392	0.66966	D	0.0868363514996642	0.10838	T	0.872113	0.57861	D	0.752904	0.81037	0.69471806	0.82028	0.752904	0.81038	0.69471806	0.82029	-10.866	0.78951	D	.	.	0.719	0.76143	P	.;.	.;.	3.701678	0.52801	23.3	0.99466671050812694	0.66102	0.34876	0.25170	N	AEFBI	0.537137	0.55506	D	0.326887927068418	0.57530	3.921	0.196019217870668	0.49628	3.163746	0.209109062268677	0.18217	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.39	4.5	0.54382	0.074000	0.14525	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.781000	0.36947	0.0:0.1361:0.5831:0.2808	9.710	0.39406	696	0.58299	.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005285	0.000000	0.004076	0.008197	0.000000	0.000000	0.006098	0.003788	0.02632	3615.33	42	chr5	141351894	.	G	C	3615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.903;DP=1014;ExcessHet=0;FS=2.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.47;MQRankSum=-0.449;QD=11.37;ReadPosRankSum=0.697;SOR=0.554	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R,PCDHGA4:NM_032053:exon1:c.C1478G:p.P493R	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	3735.33	33	chr5	141356585	.	C	G	3735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.985;DP=1405;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.266;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	18	0	1	0
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y,PCDHGB2:NM_032096:exon1:c.C1814A:p.S605Y	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017553	0.005102	0.004076	0.024793	0.050000	0.008772	0.018519	0.045455	0.02632	2300.33	33	chr5	141361949	.	C	A	2300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-8.646;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.79;MQRankSum=1.46;QD=17.83;ReadPosRankSum=-1.234;SOR=0.716	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	141364748	141364748	G	T	exonic	PCDHGA5	.	nonsynonymous SNV	PCDHGA5:NM_018918:exon1:c.G418T:p.V140L,PCDHGA5:NM_032054:exon1:c.G418T:p.V140L	.	11	1506	5	0	0	5	0.00165728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00777042835283	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891416528	2.053e-06	2.052e-06	2.723e-06	1.375e-06	8.994e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.994e-07	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.007	0.14184	B	0.008	0.16460	B	.	.	.	.	1	0.81001	D	-1.13	0.00936	N	0.6	0.53731	T	-1.07	0.27876	N	0.041	0.03175	-0.9094	0.46928	T	0.046	0.19720	T	9	0.041682184	0.02847	T	0.00777	0.20616	T	0.148	0.39182	0.618	0.75232	0.452546404249	0.44878	0.1555750118850913	0.15478	0.169434259156	0.19097	.	.	.	0.132426	0.46251	T	-0.211496	0.19169	T	-0.541576	0.18143	T	0.0630713331227809	0.07643	T	0.490951	0.15096	T	0.08411077	0.19453	0.094339706	0.22325	0.08411077	0.19453	0.094339706	0.22325	-3.202	0.12505	T	.	.	0.205	0.43088	B	.;.	.;.	2.021205	0.25683	16.85	0.77735805530253654	0.12000	0.06941	0.12967	N	AEFDBI	0.101132	0.20319	N	-0.820955731735686	0.12775	0.62492	-0.651569606573928	0.18177	0.9698796	0.245678800327688	0.18623	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.42	3.51	0.39297	0.047000	0.13941	.	.	0.672000	0.70159	0.005000	0.17040	0.000000	0.08366	0.706000	0.34326	0.152:0.1486:0.4251:0.2743	1.617	0.02542	649	0.63102	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2479.33	149	chr5	141364748	.	G	T	2479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=890;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-1.517;SOR=0.995	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	141371577	141371577	G	A	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.G1183A:p.V395I,PCDHGB3:NM_032097:exon1:c.G1183A:p.V395I	.	424	1090	6	2	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00303407297116	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0012	0.0011	0.0005	0.0007115	110	154602	rs202142331	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0011	0.0011	0.0003	0.0004	7.653e-05	0	7.493e-05	0.0014	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0002	0	0.0007	0	0	0	0	0.0010	0.0024	0.0004	.	.	.	0.187	0.28764	T	0.178	0.28960	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.035	0.25616	L	2.09	0.20122	T	.	.	.	0.024	0.01740	.	.	.	.	.	.	.	0.008795857	0.00199	T	0.003034	0.06517	T	.	.	.	.	0.635802757196	0.63280	0.027690465593993054	0.02719	0.191815708465	0.21510	.	.	.	0.003733	0.03140	T	-0.653524	0.00069	T	-0.75707	0.03218	T	.	.	.	0.122788	0.01053	T	0.042033363	0.06301	0.06272714	0.12315	0.042033363	0.06301	0.06272714	0.12315	-2.636	0.06782	T	.	.	0.066	0.02173	B	.;.	.;.	0.128753	0.05250	1.751	0.84737452834625193	0.15468	0.09370	0.15140	N	AEFBI	0.104155	0.20847	N	.	.	.	.	.	.	0.455484861000563	0.20578	0.549168	0.22868	0	0.588066	0.40923	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	4.89	1.93	0.24985	-0.445000	0.06918	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.1528:0.0:0.5753:0.2719	5.378	0.15478	650	0.62973	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2930.33	36	chr5	141371577	.	G	A	2930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.48;DP=1624;ExcessHet=0;FS=1.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.635;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr5	141375342	141375342	T	A	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.T1259A:p.I420N,PCDHGA6:NM_032086:exon1:c.T1259A:p.I420N	.	.	.	.	.	.	.	.	.	.	.	2767314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.578	0.172118549401	.	.	0.0002	0	8.67e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs576044355	6.363e-05	6.362e-05	2.995e-05	9.766e-05	0.0010	5.296e-05	4.912e-05	0.0008	0.0008	2.987e-05	0	0	2.519e-05	0	0	2.698e-06	4.969e-05	0.0010	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.231422	0.15912	U	0.355912	1	0.81001	D	4.47	0.98884	H	0.06	0.61798	T	-6.89	0.93257	D	0.834	0.84713	0.705	0.93231	D	0.618	0.86539	D	10	0.7439717	0.75155	D	0.172119	0.84919	D	0.578	0.82968	0.733	0.86633	0.895898696714	0.89487	0.4021467748251058	0.40130	1.30445785166	0.83093	.	.	.	0.353305	0.72062	T	-0.0332991	0.46935	T	0.13384	0.79143	D	0.711929261684418	0.41295	D	0.979335	0.92822	D	0.8820632	0.89838	0.81899124	0.89474	0.8820632	0.89839	0.81899124	0.89474	-16.389	0.98287	D	.	.	0.858	0.80205	P	.;.	.;.	4.958467	0.81967	27.7	0.99361485447150955	0.61029	0.99698	0.98764	D	AEFBI	0.922646	0.89794	D	0.988999496178048	0.95396	13.57992	0.873535743358436	0.94312	12.66445	0.999999999784699	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.620976	0.48614	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	.	.	0.665000	0.62972	0.984000	0.35821	0.802000	0.26959	0.944000	0.48669	0.0:0.0:0.0:1.0	15.608	0.76440	651	0.62880	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2961.33	34	chr5	141375342	.	T	A	2961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1044;ExcessHet=0;FS=9.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.144;SOR=0.845	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr5	141389331	141389331	G	A	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1447A:p.G483S,PCDHGB4:NM_032098:exon1:c.G1447A:p.G483S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0175540045875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212558688	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.069	0.43913	T	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	1.685	0.43254	L	0.79	0.49068	T	-3.78	0.71519	D	0.142	0.25253	-0.9265	0.44645	T	0.213	0.57361	T	9	0.65562505	0.69856	D	0.017554	0.39293	T	0.239	0.54358	0.807	0.92442	0.576013683475	0.57270	0.35648236882063733	0.35562	.	.	.	.	.	0.193307	0.54873	T	-0.0840699	0.39049	T	-0.358537	0.38221	T	0.946275055408478	0.62435	D	0.845515	0.52437	T	0.16097675	0.36075	0.16435376	0.38077	0.16097675	0.36074	0.16435376	0.38076	-7.627	0.59520	D	.	.	0.116	0.35331	B	.;.	.;.	3.411775	0.47334	22.4	0.99771749045697622	0.86003	0.79141	0.39161	D	AEFBI	0.608980	0.59835	D	0.0561984436309451	0.44428	2.717048	-0.0953019557487298	0.35584	2.060442	0.996747323893416	0.34974	0.676563	0.55306	0	0.588066	0.40923	0	0.667671	0.60360	0	0.600526	0.37237	0	.	.	5.18	3.27	0.36580	3.330000	0.51782	.	.	0.590000	0.31872	0.508000	0.27017	0.683000	0.26131	0.021000	0.11733	0.0749:0.0:0.7843:0.1408	9.621	0.38883	754	0.51307	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2993.33	34	chr5	141389331	.	G	A	2993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=1083;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=2.14;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr5	141389722	141389722	G	C	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1838C:p.G613A,PCDHGB4:NM_032098:exon1:c.G1838C:p.G613A	.	196	1282	41	3	0	47	0.0180008	.	.	.	2825345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.280	.	0.0072	0.00399361	0.0081	0.0020	0.0078	0	0.0103	0.0093	0.0101	0.0101	0.0078395	1212	154602	rs141134077	0.0097	0.0097	0.0095	0.0099	0.0282	0.0096	0.0095	0.0246	0.0232	0.0019	0.0078	0.0094	2.519e-05	0.0099	0.0282	0.0103	0.0090	0.0099	0.0079	0.0079	0.0080	0.0077	0.0120	0.0075	0.0073	0.0106	0.0101	0.0020	0	0.0120	0.0069	0	0.0122	0.0204	0.0105	0.0061	0.0079	0.134	0.26300	T	0.129	0.34837	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.075	0.57047	M	0.6	0.53731	T	-4.97	0.82063	D	0.076	0.17828	-0.7849	0.56025	T	0.234	0.60087	T	9	0.009389728	0.00212	T	.	.	.	0.280	0.59740	.	.	0.698464051262	0.69585	0.35404861389993686	0.35318	.	.	.	.	.	0.181704	0.53346	T	-0.349946	0.04730	T	-0.261824	0.48642	T	0.0558360295277478	0.06496	T	0.914509	0.69499	D	0.36165914	0.57963	0.4088886	0.65193	0.36165914	0.57963	0.4088886	0.65193	-7.983	0.62439	D	.	.	0.157	0.34645	B	.;.	.;.	3.812229	0.54996	23.6	0.99596222077700636	0.73925	0.13787	0.18052	N	AEFBI	0.164576	0.29098	N	0.351618076349019	0.58824	4.057204	0.281579482210236	0.54466	3.611339	0.967080787852265	0.28951	0.625279	0.40028	0	0.588066	0.40923	0	0.667671	0.60360	0	0.59522	0.37078	0	.	.	5.05	5.05	0.67566	0.287000	0.18678	.	.	0.504000	0.22967	0.001000	0.13787	1.000000	0.68203	0.991000	0.66497	0.0:0.2654:0.7346:0.0	13.932	0.63510	759	0.50631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029738	0.015152	0.019022	0.052632	0.150000	0.034483	0.018405	0.018939	0.02632	3388.33	34	chr5	141389722	.	G	C	3388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.252;DP=947;ExcessHet=0;FS=6.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.942;QD=13.29;ReadPosRankSum=-0.06;SOR=0.437	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr5	141395182	141395182	C	T	exonic	PCDHGA8	.	nonsynonymous SNV	PCDHGA8:NM_014004:exon1:c.C2369T:p.S790F,PCDHGA8:NM_032088:exon1:c.C2369T:p.S790F	.	191	1319	12	0	0	12	0.0045283	.	.	.	3575415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00890473528546	.	0.000199681	0.0001	0	0	0	0	9.011e-05	0.0011	0.0007	0.0001423	22	154602	rs143509166	8.756e-05	8.756e-05	8.712e-05	8.801e-05	0.0017	7.488e-05	7.035e-05	0.0009	0.0007	5.974e-05	0	0	0	1.872e-05	0.0017	5.036e-05	0.0003	0.0005	8.535e-05	8.53e-05	6.424e-05	0.0001	0.0002	4.953e-05	3.96e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.429e-05	0.0034	0.0002	0	0	0.234	0.18061	T	0.133	0.35082	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	0.48	0.13178	N	0.81	0.48460	T	-2.05	0.47008	N	0.142	0.36043	-1.0392	0.17556	T	0.072	0.29259	T	9	0.028700948	0.01000	T	0.008905	0.23463	T	0.140	0.37593	.	.	0.495172024023	0.49151	0.11320334284700659	0.11248	.	.	.	.	.	0.035685	0.23816	T	-0.426339	0.01560	T	-0.500751	0.22271	T	0.0482627972960472	0.05191	T	0.255674	0.03967	T	0.10975513	0.25946	0.14769743	0.34942	0.10975513	0.25946	0.14769743	0.34941	-6.306	0.48770	T	.	.	0.094	0.14523	B	.;.	.;.	2.488805	0.32106	18.94	0.76062084114784401	0.11318	0.73992	0.36191	D	AEFBI	0.545006	0.55970	D	-0.717891172023897	0.15519	0.7828081	-0.670170512121005	0.17708	0.9427949	0.998262376644592	0.36664	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.5	3.63	0.40741	0.932000	0.28484	.	.	0.520000	0.23804	0.000000	0.06391	0.061000	0.22037	0.573000	0.30723	0.0:0.9107:0.0:0.0893	11.412	0.49173	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2115.33	43	chr5	141395182	.	C	T	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=913;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.903;SOR=0.505	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.02632	1975.33	35	chr5	141399013	.	G	A	1975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=1311;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.136;SOR=0.688	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K,PCDHGB5:NM_032099:exon1:c.G1268A:p.R423K	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.005435	0.011696	0.000000	0.017241	0.024390	0.022727	0.05263	7456.83	369	chr5	141399395	.	G	A	7456.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=1835;ExcessHet=0.119;FS=1.736;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.42;SOR=0.852	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	17	0	2	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:237,105:342:99:313,0,4486	8	0	11	0
chr5	141405144	141405144	G	C	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.G2192C:p.G731A,PCDHGA9:NM_032089:exon1:c.G2192C:p.G731A	.	210	1305	7	0	0	7	0.00267482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00172665036326	.	0.000399361	0.0002	0	8.645e-05	0	0	0	0	0.0014	0.0001876	29	154602	rs559544645	0.0001	0.0001	6.126e-05	0.0002	0.0019	0.0001	9.701e-05	0.0016	0.0015	0	0	0	0	0	0.0002	3.597e-06	9.937e-05	0.0019	8.535e-05	8.53e-05	7.709e-05	9.399e-05	0.0027	4.953e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	0.066	0.49663	T	0.002	0.15093	B	0.021	0.19346	B	.	.	.	.	0.999998	0.08975	N	2.3	0.65703	M	0.9	0.45248	T	.	.	.	0.069	0.04668	.	.	.	.	.	.	.	0.008689225	0.00197	T	0.001727	0.02908	T	.	.	.	.	0.795900344566	0.79399	0.17240292680753022	0.17160	0.236369445477	0.26177	.	.	.	0.019159	0.15317	T	-0.59117	0.00165	T	-0.646578	0.09195	T	.	.	.	0.176182	0.01706	T	0.03035736	0.02685	0.083826445	0.19239	0.03035736	0.02684	0.083826445	0.19239	-7.101	0.56841	T	.	.	0.081	0.08417	B	.;.	.;.	1.159221	0.15481	11.88	0.96128413667614765	0.28796	0.14725	0.18553	N	AEFDBI	0.119690	0.23349	N	.	.	.	.	.	.	0.989927285117432	0.31978	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.48	3.36	0.37579	-0.077000	0.11356	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.159000	0.20615	0.1068:0.0:0.7286:0.1646	8.771	0.33892	809	0.43032	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2408.33	33	chr5	141405144	.	G	C	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.052;DP=1160;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.47;SOR=0.661	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1274	18	0	1	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.07895	7198.79	222	chr5	141408395	.	A	G	7198.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.02;DP=1497;ExcessHet=0.3672;FS=1.745;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.94;MQRankSum=-8.117;QD=11.13;ReadPosRankSum=1.55;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	16	0	3	0
chr5	141410519	141410519	-	T	exonic	PCDHGB6	.	frameshift insertion	PCDHGB6:NM_018926:exon1:c.2318dupT:p.H774Tfs*4,PCDHGB6:NM_032100:exon1:c.2318dupT:p.H774Tfs*4	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs775122106	6.157e-05	6.156e-05	2.995e-05	9.352e-05	0.0010	5.095e-05	4.716e-05	0.0008	0.0008	0	0	0	0	0	0	8.994e-07	3.313e-05	0.0010	3.283e-05	3.281e-05	1.285e-05	5.373e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1957.29	37	chr5	141410519	.	C	CT	1957.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=841;ExcessHet=0;FS=11.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-2.044;SOR=1.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr5	141422807	141422807	G	A	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032091:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032092:exon1:c.G1580A:p.R527Q	.	11	1487	23	1	0	25	0.00833611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0061901	0.0038	0.0001	0.0006	0.0001	0	0.0019	0.0055	0.0195	0.0033441	517	154602	rs199507728	0.0020	0.0020	0.0014	0.0026	0.0183	0.0019	0.0019	0.0176	0.0173	0.0002	0.0006	0.0043	0.0002	0.0002	0.0113	0.0009	0.0026	0.0183	0.0015	0.0015	0.0012	0.0018	0.0205	0.0013	0.0013	0.0172	0.0160	9.623e-05	0	0.0008	0.0040	0.0004	9.413e-05	0.0136	0.0013	0.0014	0.0205	0.425	0.10874	T	0.25	0.23707	T	0.304	0.37393	B	0.044	0.31143	B	0.255422	0.15422	N	0.351137	0.999938	0.19363	N	0.645	0.16088	N	0.15	0.60734	T	-1.72	0.45404	N	0.043	0.04426	-1.0683	0.09791	T	0.087	0.33718	T	10	0.0035232902	0.00063	T	.	.	.	0.060	0.17295	.	.	0.570128362464	0.56678	0.0724609524383448	0.07183	0.539253451491	0.51157	.	.	.	0.006777	0.06208	T	-0.588445	0.00171	T	-0.6031	0.12552	T	0.00403512760185142	0.00043	T	0.876412	0.60517	D	0.026217287	0.01651	0.040891923	0.04523	0.026217287	0.01651	0.040891923	0.04522	-5.866	0.47452	T	.	.	0.073	0.05274	B	.;.;.	.;.;.	0.689435	0.10580	7.287	0.92052471578566164	0.21396	0.07131	0.13157	N	AEFDBHCI	0.091924	0.18615	N	-0.852786668613908	0.11981	0.5813239	-0.815637048781199	0.14116	0.7359606	0.999996972298098	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.76	2.8	0.31881	1.040000	0.29888	.	.	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.426:0.0:0.574:0.0	8.167	0.30395	819	0.41190	.;Cadherin-like|Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.02632	4128.33	33	chr5	141422807	.	G	A	4128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=1229;ExcessHet=0;FS=4.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.825;SOR=0.521	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	18	0	1	0
chr5	141431453	141431453	G	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G694A:p.V232I,PCDHGA12:NM_032094:exon1:c.G694A:p.V232I	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0187671656912	.	0.00159744	0.0013	0	0	0	0	0	0.0011	0.0097	0.0010996	170	154602	rs201704748	0.0006	0.0006	0.0003	0.0008	0.0095	0.0006	0.0005	0.0089	0.0087	0	2.236e-05	0	0	0	0.0005	2.698e-06	0.0006	0.0095	0.0004	0.0004	0.0002	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	6.531e-05	0	0	0	0	0	0	0.0114	0.041	0.41915	D	0.064	0.46182	T	0.949	0.55135	P	0.652	0.61001	P	.	.	.	.	1	0.81001	D	2.11	0.58565	M	0.1	0.61326	T	-0.93	0.24898	N	0.323	0.36884	-0.6125	0.64300	T	0.350	0.71439	T	9	0.008258879	0.00187	T	0.018767	0.40941	T	0.334	0.65620	0.559	0.67821	0.679713862216	0.67699	0.15180183106835163	0.15102	.	.	.	.	.	0.044019	0.26686	T	-0.319656	0.06926	T	-0.223979	0.52353	T	0.196006767305303	0.20193	T	0.888211	0.61727	D	0.07671265	0.17367	0.06906135	0.14504	0.07671265	0.17366	0.06906135	0.14504	-8.42	0.64502	D	.	.	0.137	0.29887	B	.;.	.;.	3.643778	0.51676	23.1	0.99184634471449495	0.54789	0.98844	0.87601	D	AEFDGBHIJ	0.863072	0.78152	D	0.480255808093299	0.65938	4.885892	0.35643325449226	0.58895	4.063198	0.999999999998387	0.74766	0.646311	0.45356	0	0.296712	0.05252	1	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.89	4.89	0.63387	8.183000	0.89647	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0836:0.0:0.9164:0.0	11.356	0.48852	818	0.41518	.;Cadherin-like|Cadherin conserved site|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2483.33	37	chr5	141431453	.	G	A	2483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.284;DP=837;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.52;SOR=0.673	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1350	18	0	1	0
chr5	141431463	141431463	C	T	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C704T:p.A235V,PCDHGA12:NM_032094:exon1:c.C704T:p.A235V	.	395	1093	30	4	0	38	0.0170863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0022	0.00399361	0.0051	0.0003	0.0026	0	0.0014	0.0036	0.0033	0.0198	0.0044372	686	154602	rs139195027	0.0036	0.0036	0.0030	0.0042	0.0200	0.0035	0.0035	0.0192	0.0189	0.0005	0.0018	0.0042	2.519e-05	0.0024	0.0054	0.0026	0.0039	0.0200	0.0027	0.0027	0.0024	0.0029	0.0205	0.0024	0.0024	0.0172	0.0160	0.0005	0	0.0033	0.0046	0.0004	0.0015	0.0034	0.0028	0.0047	0.0205	0.283	0.15354	T	0.178	0.29639	T	0.022	0.20242	B	0.01	0.16862	B	.	.	.	.	0.583734	0.31078	N	-0.31	0.03598	N	4.02	0.03178	T	-0.57	0.17210	N	0.042	0.01999	-0.9074	0.47168	T	0.004	0.01295	T	9	0.0067094862	0.00152	T	.	.	.	0.014	0.01968	.	.	0.220303561663	0.21668	0.12593832730350227	0.12519	.	.	.	.	.	0.003892	0.03302	T	-0.723327	0.00026	T	-0.796191	0.02000	T	0.00219904459130167	0.00023	T	0.815218	0.46991	T	0.03382852	0.03680	0.07829049	0.17522	0.03382852	0.03680	0.07829049	0.17522	-4.955	0.36425	T	.	.	0.086	0.10931	B	.;.	.;.	-1.299337	0.00439	0.009	0.94628708314761545	0.25214	0.02661	0.07276	N	AEFDGBHIJ	0.100983	0.20292	N	-1.54332638067758	0.01574	0.06876488	-1.58798993625364	0.01728	0.07858321	0.99999999807393	0.74766	0.580535	0.33130	0	0.296712	0.05252	1	0.576033	0.28219	0	0.372554	0.06265	0	.	.	4.7	-5.55	0.02336	-3.012000	0.00711	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.09:0.5164:0.0:0.3936	9.928	0.40672	818	0.41518	.;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.017241	0.015244	0.011364	0.02632	3133.33	37	chr5	141431463	.	C	T	3133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.791;SOR=0.692	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1350	18	0	1	0
chr5	141432014	141432014	A	C	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.A1255C:p.N419H,PCDHGA12:NM_032094:exon1:c.A1255C:p.N419H	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0220921555516	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778393699	1.094e-05	1.094e-05	1.361e-06	2.063e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.646e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	1	0.81001	D	1.82	0.47800	L	4.64	0.01799	T	-4.91	0.81595	D	0.596	0.61511	-1.1135	0.02785	T	0.033	0.14203	T	9	0.7572427	0.76075	D	0.022092	0.44941	T	0.265	0.57870	0.625	0.76028	0.564057482462	0.56068	0.08324992447276149	0.08258	.	.	.	.	.	0.074316	0.34910	T	-0.256749	0.13283	T	-0.403925	0.32928	T	0.949823021888733	0.63199	D	0.846915	0.66877	T	0.67801666	0.76862	0.63249546	0.78556	0.67801666	0.76863	0.63249546	0.78556	-5.89	0.46431	T	.	.	0.131	0.30450	B	.;.	.;.	4.273154	0.65030	24.8	0.99594506015972029	0.73807	0.99076	0.90873	D	AEFBI	0.854831	0.77189	D	0.787462195531344	0.85314	8.539466	0.698390077664455	0.82256	7.722337	0.999998645170978	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.59	4.59	0.56297	3.792000	0.55181	.	.	0.756000	0.94297	0.984000	0.35821	0.991000	0.31484	0.998000	0.85391	1.0:0.0:0.0:0.0	13.796	0.62662	818	0.41518	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3099.33	37	chr5	141432014	.	A	C	3099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.998;DP=918;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.65;SOR=0.782	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1350	18	0	1	0
chr5	141490370	141490370	G	A	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.G1130A:p.R377Q,PCDHGC5:NM_032407:exon1:c.G1130A:p.R377Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	2373762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00546064174655	.	.	2.471e-05	0	0	0.0001	0	2.997e-05	0	0	1.94e-05	3	154602	rs768474199	1.505e-05	1.505e-05	1.906e-05	1.1e-05	6.708e-05	9.85e-06	8.41e-06	1.779e-05	8.93e-06	0	6.708e-05	3.826e-05	2.519e-05	0	0	1.259e-05	4.967e-05	0	6.572e-05	6.567e-05	5.14e-05	8.071e-05	0.0002	3.517e-05	2.617e-05	5.286e-05	2.835e-05	0	0	0.0002	0	0	9.422e-05	0	8.82e-05	0	0	0.44	0.09264	T	0.797	0.06666	T	0.122	0.34093	B	0.083	0.29179	B	0.000334	0.45700	D	0.000000	1	0.81001	D	0.725	0.18768	N	4.67	0.01735	T	-0.78	0.21644	N	0.084	0.06587	-0.9747	0.36191	T	0.005	0.01761	T	10	0.18222693	0.33492	T	0.005461	0.14045	T	0.087	0.25287	0.506	0.60078	0.466230903105	0.46247	0.09791151796377738	0.09722	0.451143628614	0.44869	0.385929733515	0.23093	T	0.020482	0.16118	T	-0.451771	0.01103	T	-0.706418	0.05482	T	0.0753469690680504	0.09381	T	0.868313	0.62952	D	0.09173304	0.21504	0.07907525	0.17769	0.09173304	0.21503	0.07907525	0.17769	-6.714	0.52028	T	.	.	0.097	0.15788	B	.;.	.;.	3.440187	0.47849	22.5	0.95629882244322462	0.27411	0.68442	0.33803	D	AEFBI	0.297066	0.40675	N	-0.168516618686173	0.34450	1.96649	-0.0243270560851178	0.38620	2.277889	0.999985140697038	0.51787	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.56	4.69	0.58546	1.261000	0.32582	.	.	0.676000	0.76740	0.894000	0.31287	1.000000	0.68203	0.997000	0.79791	0.2248:0.0:0.7751:0.0	8.849	0.34346	732	0.54084	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1031.33	33	chr5	141490370	.	G	A	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1135;ExcessHet=0;FS=1.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.35;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	18	0	1	0
chr5	141490981	141490981	C	T	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.C1741T:p.R581C,PCDHGC5:NM_032407:exon1:c.C1741T:p.R581C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.032263979169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3e-05	1.368e-05	1.906e-05	6.876e-06	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.002	0.79402	D	0.997	0.90584	D	0.917	0.65306	D	0.000033	0.55875	D	0.000000	1	0.81001	D	3.39	0.91563	M	0.7	0.51474	T	-5.55	0.86222	D	0.356	0.39760	-0.2633	0.75997	T	0.337	0.70379	T	10	0.48610663	0.60717	T	0.032264	0.54139	D	0.272	0.58758	0.635	0.77142	0.78846018172	0.78650	0.43016415100622335	0.42933	1.20945217804	0.80786	0.630709171295	0.57246	T	0.322179	0.69321	T	0.0828118	0.62368	D	-0.118823	0.61899	T	0.977789759635925	0.72009	D	0.859714	0.71494	D	0.3264657	0.55180	0.4777061	0.69742	0.3264657	0.55180	0.4777061	0.69743	-8.837	0.66642	D	.	.	0.231	0.46619	B	.;.	.;.	5.146238	0.86174	28.8	0.999202350520911	0.98721	0.47184	0.27926	N	AEFGBCI	0.462715	0.51193	N	0.550199815949778	0.70095	5.451332	0.4514214383909	0.64806	4.744711	0.999999984648982	0.74766	0.59774	0.34471	0	0.550933	0.16991	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.45	5.45	0.79688	0.626000	0.24185	.	.	0.599000	0.40250	0.013000	0.18845	1.000000	0.68203	1.000000	0.97212	0.1516:0.8484:0.0:0.0	13.978	0.63795	727	0.54702	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3723.83	33	chr5	141490981	.	C	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1126;ExcessHet=0.119;FS=0.447;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	17	0	2	0
chr5	141573886	141573886	G	C	exonic	DIAPH1	.	nonsynonymous SNV	DIAPH1:NM_001079812:exon15:c.C1937G:p.P646R,DIAPH1:NM_001314007:exon16:c.C1964G:p.P655R,DIAPH1:NM_005219:exon16:c.C1964G:p.P655R	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive	27	1483	12	0	0	12	0.00402955	.	.	.	520821	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_1|DIAPH1-related_disorder|Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome	MedGen:C3661900|MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635|.|MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.378	.	.	0.00139776	0.0043	0	0.0032	0	0	0.0007	0.0093	0.0163	0.000718	111	154602	rs367669306	0.0006	0.0006	0.0004	0.0008	0.0095	0.0006	0.0006	0.0089	0.0087	6.257e-05	2.826e-05	0.0002	0	0	0.0039	1.393e-05	0.0010	0.0095	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0056	0.0049	0.0002	0	0	0.0003	0	0	0	0	0	0.0075	0.029	0.50132	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000725	0.42129	D	0.156526	1	0.81001	D	1.765	0.45800	L	-0.17	0.79376	T	-2.38	0.52451	N	0.447	0.48504	0.029	0.82823	D	0.476	0.79899	T	10	0.009348184	0.00211	T	.	.	.	0.378	0.69612	0.565	0.68633	0.953584219927	0.95309	0.2798224076378784	0.27895	0.121433819043	0.13684	0.424848616123	0.28503	T	0.294515	0.66720	T	-0.18128	0.23544	T	-0.025497	0.68667	D	0.0613302237355979	0.07377	T	0.760024	0.39447	T	0.119246475	0.28081	0.11169279	0.26945	0.13153172	0.30655	0.115664504	0.27921	-13.182	0.90212	D	.	.	0.106	0.32396	B	.;.;.;.;.;.	.;.;.;.;.;.	4.677695	0.74826	26.2	0.99013361884031392	0.50420	0.98666	0.85331	D	AEFDBHCI	0.872026	0.79369	D	0.789904815581331	0.85470	8.585508	0.70955253198377	0.83103	7.935015	0.999999999997809	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	8.926000	0.92384	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	16.992	0.86230	817	0.41665	Formin Homology 1;Formin Homology 1;Formin Homology 1;Formin Homology 1;Formin Homology 1;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002567	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015625	0.02632	1014.33	37	chr5	141573886	.	G	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.814;DP=909;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.688;SOR=0.772	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	141646089	141646089	G	C	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon12:c.C1147G:p.Q383E	.	433	1088	1	0	0	1	0.000459348	0.0014	0.274	.	3438846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00520008849463	.	.	3.592e-05	0	0.0002	0	0	4.233e-05	0	0	1.94e-05	3	154602	rs769631846	1.167e-05	1.163e-05	8.19e-06	1.519e-05	0.0002	7.11e-06	5.81e-06	2.212e-05	1.443e-05	0	6.779e-05	0	0	0	0.0002	7.208e-06	0	5.861e-05	6.57e-06	6.566e-06	1.284e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.04	0.21238	B	0.006	0.12133	B	0.001063	0.40389	N	0.205035	1	0.81001	D	0.105	0.08473	N	2.23	0.18083	T	1.5	0.00825	N	0.203	0.22486	-1.0641	0.10760	T	0.040	0.17020	T	10	0.049448043	0.04535	T	0.005	0.13248	T	0.116	0.32463	0.24	0.17218	0.502379540653	0.49875	0.17753693370786508	0.17672	0.158857962076	0.17927	0.422160983086	0.28133	T	0.001545	0.00986	T	-0.355779	0.04375	T	-0.665963	0.07869	T	0.068106958811323	0.08383	T	0.763624	0.41012	T	0.08335611	0.19245	0.11272795	0.27202	0.08335611	0.19245	0.11272795	0.27202	-2.625	0.06695	T	.	.	0.081	0.10159	B	.;.	.;.	2.737217	0.35844	20.0	0.63283192413298528	0.07183	0.81260	0.40701	D	AEFDBI	0.402548	0.47659	N	-0.367276098798537	0.26642	1.455581	-0.12664447667486	0.34320	1.97284	0.999999215348063	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	4.705000	0.61527	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.2698:0.7302:0.0	13.913	0.63385	791	0.46100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	743.33	34	chr5	141646089	.	G	C	743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.353;SOR=0.869	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr5	141649286	141649286	G	A	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon6:c.C398T:p.A133V	.	418	1099	5	0	0	5	0.00226963	.	.	.	2248381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00619572378433	7.8e-05	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs372216012	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	8.944e-05	0	0	0	0.0012	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.714e-05	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0	0.0002	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.216	0.30161	B	0.025	0.20508	B	0.000360	0.45440	D	0.098818	1	0.81001	D	0.62	0.15745	N	2.38	0.15843	T	0.76	0.02130	N	0.495	0.58373	-1.0235	0.22573	T	0.023	0.09968	T	10	0.05957064	0.07181	T	0.006196	0.16229	T	0.116	0.32463	.	.	0.411265580357	0.40742	0.07535445334460282	0.07471	0.160810122729	0.18153	0.653440237045	0.60475	T	0.001142	0.07211	T	-0.327891	0.06272	T	-0.404222	0.32892	T	0.0578291192650795	0.06823	T	0.859714	0.59457	D	0.039221574	0.05375	0.06293877	0.12392	0.039221574	0.05375	0.06293877	0.12392	-4.002	0.23834	T	.	.	0.092	0.15520	B	.;.;.	.;.;.	3.449134	0.48019	22.5	0.99191496683810543	0.54994	0.68652	0.33883	D	AEFDGBHCI	0.097731	0.19706	N	-0.165721492987817	0.34568	1.974674	0.0145683949082476	0.40391	2.409714	0.999999589538723	0.74766	0.712529	0.81865	0	0.606735	0.50208	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	3.696000	0.54489	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.0909:0.0:0.9091:0.0	10.566	0.44360	785	0.46916	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3251.33	37	chr5	141649286	.	G	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=852;ExcessHet=0;FS=4.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.996;SOR=0.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	18	0	1	0
chr5	141649896	141649896	A	G	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon4:c.T224C:p.M75T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00731016105312	0.0005	.	0.0003	0	0	0	0	0.0007	0	0	8.41e-05	13	154602	rs376137825	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0	0.0004	0.0002	0.0002	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.246e-05	0.0002	0.0002	0	0	6.545e-05	0.0003	0	9.423e-05	0	0.0003	0	0	0.589	0.06184	T	0.58	0.08685	T	0.0	0.02946	B	0.001	0.04355	B	0.210881	0.03386	N	1.623940	0.999217	0.81001	N	-0.805	0.01590	N	2.71	0.12268	T	-0.37	0.13226	N	0.078	0.10198	-1.0298	0.20519	T	0.035	0.14943	T	10	0.018226802	0.00395	T	0.00731	0.19388	T	0.058	0.16647	.	.	0.239305524855	0.23518	0.06446317629515821	0.06385	0.168144324308	0.18958	0.450512528419	0.32014	T	0.002681	0.02075	T	-0.630241	0.00095	T	-0.761106	0.03073	T	0.0273991060218755	0.01602	T	0.421058	0.11199	T	0.039840627	0.05576	0.049900528	0.07721	0.039840627	0.05576	0.049900528	0.07720	-2.008	0.03211	T	.	.	0.078	0.08033	B	.;.;.	.;.;.	1.176902	0.15673	12.02	0.95759724234451371	0.27746	0.13290	0.17772	N	AEFDBI	0.048902	0.08393	N	-0.901397393555502	0.10809	0.5184056	-0.709412583604002	0.16726	0.8861902	0.998747334774602	0.37581	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	4.97	1.1	0.19578	0.604000	0.23862	.	.	0.741000	0.86335	0.048000	0.21332	0.373000	0.24578	0.302000	0.24547	0.6301:0.0:0.3699:0.0	7.245	0.25292	779	0.47767	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	805.33	37	chr5	141649896	.	A	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.799;DP=809;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=-0.853;SOR=0.777	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr5	141863296	141863296	G	A	exonic	PCDH1	.	nonsynonymous SNV	PCDH1:NM_001278615:exon2:c.C1898T:p.T633M,PCDH1:NM_001278613:exon3:c.C3083T:p.T1028M,PCDH1:NM_002587:exon3:c.C3035T:p.T1012M,PCDH1:NM_032420:exon3:c.C3035T:p.T1012M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	.	0.00239617	0.0019	0	0.0003	0.0001	0.0003	0.0001	0.0013	0.0196	0.0017917	277	154602	rs200143790	0.0010	0.0011	0.0006	0.0015	0.0154	0.0010	0.0010	0.0146	0.0144	9.299e-05	0.0002	0	2.543e-05	0.0003	0.0022	0.0001	0.0009	0.0154	0.0005	0.0006	0.0002	0.0008	0.0135	0.0004	0.0004	0.0108	0.0099	9.629e-05	0	6.539e-05	0	0	9.427e-05	0	0.0001	0	0.0135	0.073	0.34800	T	0.094	0.39645	T	0.999	0.77913	D	0.933	0.70309	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.47	0.71715	M	1.4	0.33630	T	-2.05	0.47008	N	0.691	0.69649	-0.7419	0.58355	T	0.206	0.56512	T	10	0.010196	0.00228	T	.	.	.	0.198	0.48105	0.423	0.46693	0.21174354426	0.20776	0.2560855096410599	0.25522	1.3345040269	0.83722	0.70681655407	0.68131	T	0.071543	0.34234	T	-0.238302	0.15566	T	-0.102107	0.63234	T	0.130818232893944	0.15458	T	0.965303	0.87188	D	0.107679315	0.25461	0.12883446	0.30989	0.107679315	0.25461	0.12883446	0.30988	-7.375	0.58513	T	.	.	0.191	0.40984	B	.;.	.;.	4.406987	0.68149	25.2	0.99819031853016216	0.90238	0.86426	0.45704	D	AEFBCI	0.744535	0.68749	D	0.635926126412539	0.75460	6.309941	0.597684234809031	0.74773	6.194485	0.999999999832977	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	7.669000	0.82880	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.149	0.72357	910	0.22284	.;Protocadherin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4839.83	33	chr5	141863296	.	G	A	4839.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.87;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	17	0	2	0
chr5	141928278	141928278	C	T	exonic	DELE1	.	nonsynonymous SNV	DELE1:NM_001142603:exon4:c.C392T:p.P131L,DELE1:NM_014773:exon4:c.C392T:p.P131L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0127986607511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.008	0.67890	D	0.028	0.19712	B	0.006	0.12133	B	0.169161	0.17427	N	0.613521	1	0.08975	N	.	.	.	2.74	0.17761	T	-1.41	0.51811	N	0.118	0.10769	-1.0360	0.18544	T	0.041	0.17488	T	10	0.07903364	0.12666	T	0.012799	0.31686	T	0.011	0.01250	0.339	0.32979	0.163833314356	0.15978	0.3990724877784135	0.39822	0.173506771255	0.19538	0.383775472641	0.22791	T	0.004178	0.34376	T	-0.239727	0.15385	T	-0.582127	0.14355	T	0.115270115072345	0.13962	T	0.731327	0.34690	T	0.06945335	0.15217	0.068189606	0.14206	0.06945335	0.15217	0.068189606	0.14206	-2.045	0.03355	T	.	.	0.095	0.20508	B	.;.;.	.;.;.	1.672323	0.21320	15.15	0.98043728315046097	0.37812	0.10252	0.15810	N	AEFBI	0.066943	0.13135	N	-0.67546594532911	0.16723	0.8544811	-0.698661748603986	0.16994	0.9016111	0.999871216049649	0.44625	0.722319	0.85440	0	0.724815	0.89359	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.53	2.81	0.31971	0.824000	0.27034	.	.	0.549000	0.26987	0.111000	0.23011	0.059000	0.21998	0.717000	0.34675	0.0:0.741:0.0:0.259	7.818	0.28434	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1281.33	41	chr5	141928278	.	C	T	1281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=765;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=1.77;SOR=0.52	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1268	18	0	1	0
chr5	141957070	141957070	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.C782T:p.T261M	.	425	1094	3	0	0	3	0.00136924	.	.	.	721269	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.619	.	0.0039	0.00379393	0.0041	0.0013	0.0054	0.0014	0.0017	0.0056	0.0055	0.0009	0.0042367	655	154602	rs151002555	0.0055	0.0055	0.0056	0.0054	0.0063	0.0054	0.0054	0.0062	0.0062	0.0011	0.0058	0.0073	0.0007	0.0016	0.0031	0.0063	0.0049	0.0013	0.0038	0.0038	0.0042	0.0035	0.0064	0.0036	0.0035	0.0054	0.0050	0.0013	0	0.0064	0.0066	0.0012	0.0008	0.0034	0.0055	0.0067	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.47	0.71715	M	0.34	0.58176	T	-4.47	0.77881	D	0.888	0.88687	-0.1845	0.78067	T	0.330	0.69809	T	10	0.021894366	0.00534	T	.	.	.	0.619	0.85196	.	.	0.955661878482	0.95518	0.7332111328457818	0.73266	0.742833598024	0.63358	0.49099484086	0.37576	T	0.401703	0.75893	T	-0.014831	0.49586	T	0.212459	0.83791	D	0.0278394376796234	0.01665	T	0.771423	0.40183	T	0.6960002	0.77838	0.5440432	0.73645	0.6960002	0.77839	0.5440432	0.73645	-9.028	0.67877	D	.	.	0.099	0.16800	B	.	.	5.223933	0.87673	29.3	0.99905647039428724	0.97651	0.99109	0.91358	D	AEFDBI	0.920614	0.89286	D	0.995544095833345	0.95605	13.78228	0.944895496908714	0.97248	15.81909	0.999999999999986	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.32	5.32	0.75377	10.003000	0.99689	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	16.541	0.84232	876	0.30350	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007049	0.025253	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1601.33	154	chr5	141957070	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=2490;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.132;SOR=0.556	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1615,0,2321	18	0	1	0
chr5	142315084	142315084	C	T	exonic	SPRY4	.	nonsynonymous SNV	SPRY4:NM_001127496:exon2:c.G25A:p.A9T,SPRY4:NM_001293290:exon2:c.G25A:p.A9T,SPRY4:NM_001293289:exon3:c.G25A:p.A9T,SPRY4:NM_030964:exon3:c.G94A:p.A32T	Hypogonadotropic hypogonadism 17 with or without anosmia, Autosomal dominant	421	1088	11	2	0	15	0.00684619	.	.	.	734890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0182715778717	0.0004	0.00159744	0.0015	0.0003	8.859e-05	0	0	0.0004	0.0048	0.0083	0.0012096	187	154602	rs77566564	0.0007	0.0007	0.0004	0.0009	0.0072	0.0006	0.0006	0.0067	0.0066	0.0001	0.0001	0	0	0	0.0042	0.0003	0.0007	0.0072	0.0004	0.0004	0.0004	0.0005	0.0053	0.0004	0.0003	0.0037	0.0031	0.0001	0	0.0003	0	0.0002	9.595e-05	0.0102	0.0004	0.0010	0.0053	0.205	0.41364	T	0.464	0.12456	T	0.012	0.16265	B	0.004	0.10090	B	0.000977	0.40836	D	0.237265	0.999806	0.20292	N	0	0.06538	N	-0.04	0.63240	T	-0.39	0.25118	N	0.017	0.01658	-1.0677	0.09926	T	0.085	0.33043	T	10	0.005420089	0.00119	T	0.018272	0.40277	T	0.105	0.29889	.	.	0.449860987313	0.44609	0.23363481249207993	0.23278	0.333227569698	0.35360	0.317415773869	0.13029	T	0.007488	0.37643	T	-0.487173	0.00673	T	-0.467158	0.25823	T	0.00975373414029486	0.00128	T	0.522448	0.17034	T	0.052368324	0.09758	0.043977812	0.05596	0.05321057	0.10034	0.04214595	0.04952	-3.54	0.16996	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.920549	0.24395	16.38	0.75652680651852433	0.11158	0.67658	0.33513	D	AEFDBCI	0.140622	0.26257	N	-0.840794360252147	0.12277	0.5974489	-0.652796878832132	0.18146	0.9680756	0.999963679529259	0.48965	0.722319	0.85440	0	0.54472	0.11627	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.5	1.03	0.19161	1.882000	0.39283	0.275000	0.16702	-1.025000	0.01715	1.000000	0.71638	0.000000	0.08366	0.959000	0.51448	0.0:0.2663:0.3201:0.4135	4.234	0.10070	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006048	0.000000	0.004076	0.011696	0.000000	0.008621	0.006098	0.007576	0.05263	3648.83	35	chr5	142315084	.	C	T	3648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=884;ExcessHet=0.119;FS=5.711;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.449;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	17	0	2	0
chr5	142614066	142614066	C	T	exonic	FGF1	.	nonsynonymous SNV	FGF1:NM_000800:exon2:c.G62A:p.G21E,FGF1:NM_001144892:exon2:c.G62A:p.G21E,FGF1:NM_001144935:exon2:c.G62A:p.G21E,FGF1:NM_001257205:exon2:c.G62A:p.G21E,FGF1:NM_001257206:exon2:c.G62A:p.G21E,FGF1:NM_001257208:exon2:c.G62A:p.G21E,FGF1:NM_001257209:exon2:c.G62A:p.G21E,FGF1:NM_001257210:exon2:c.G62A:p.G21E,FGF1:NM_001257211:exon2:c.G62A:p.G21E,FGF1:NM_001257212:exon2:c.G62A:p.G21E,FGF1:NM_001354959:exon2:c.G62A:p.G21E,FGF1:NM_001354962:exon2:c.G62A:p.G21E,FGF1:NM_033136:exon2:c.G62A:p.G21E,FGF1:NM_033137:exon2:c.G62A:p.G21E,FGF1:NM_001144934:exon3:c.G62A:p.G21E,FGF1:NM_001257207:exon3:c.G62A:p.G21E,FGF1:NM_001354952:exon3:c.G62A:p.G21E,FGF1:NM_001354954:exon3:c.G62A:p.G21E,FGF1:NM_001354955:exon3:c.G62A:p.G21E,FGF1:NM_001354956:exon3:c.G62A:p.G21E,FGF1:NM_001354958:exon3:c.G62A:p.G21E,FGF1:NM_001354963:exon3:c.G62A:p.G21E,FGF1:NM_001354964:exon3:c.G62A:p.G21E,FGF1:NM_001354951:exon4:c.G62A:p.G21E,FGF1:NM_001354953:exon4:c.G62A:p.G21E,FGF1:NM_001354957:exon4:c.G62A:p.G21E,FGF1:NM_001354961:exon4:c.G62A:p.G21E	.	423	1057	41	1	0	43	0.0199351	.	.	.	709694	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0027	0.00219649	0.0044	0.0008	0.0017	0	0.0012	0.0049	0.0033	0.0102	0.0042561	658	154602	rs17223632	0.0040	0.0040	0.0036	0.0043	0.0182	0.0039	0.0039	0.0154	0.0143	0.0006	0.0028	0.0095	2.519e-05	0.0019	0.0182	0.0036	0.0050	0.0110	0.0035	0.0035	0.0034	0.0036	0.0108	0.0032	0.0031	0.0085	0.0076	0.0007	0	0.0070	0.0104	0	0.0014	0.0306	0.0040	0.0028	0.0108	0.066	0.45039	T	0.417	0.14241	T	0.066	0.23586	B	0.195	0.36592	B	0.000161	0.48594	N	0.142158	0.999805	0.49283	D	0.895	0.22405	L	0.91	0.44856	T	-1.25	0.96142	N	0.175	0.31478	-1.0436	0.16236	T	0.076	0.30584	T	10	0.007540971	0.00171	T	.	.	.	0.037	0.09474	.	.	0.486282253068	0.48261	0.7046674965826489	0.70408	0.253986170498	0.27969	0.528090119362	0.42765	T	0.577861	0.86129	D	-0.529468	0.00387	T	-0.523926	0.19898	T	0.00817586214006582	0.00098	T	0.764624	0.39577	T	0.19090758	0.40695	0.12095103	0.29186	0.19090758	0.40695	0.12095103	0.29185	-4.583	0.31957	T	.	.	0.130	0.37274	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.609642	0.20572	14.81	0.95369283689386941	0.26779	0.56805	0.30212	D	AEFDBHCIJ	0.235189	0.35783	N	-0.622317181569709	0.18275	0.9474823	-0.593728052747317	0.19655	1.055565	0.999984498088826	0.51787	0.490419	0.18000	1	0.59043	0.45803	0	0.667716	0.60424	0	0.542086	0.14980	0	.	.	5.61	1.9	0.24770	2.074000	0.41154	1.418000	0.26339	-0.174000	0.10959	0.874000	0.30870	0.550000	0.25463	0.791000	0.37352	0.0:0.6238:0.1166:0.2596	6.815	0.23010	775	0.48401	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015106	0.005051	0.016304	0.023392	0.000000	0.008621	0.009146	0.015152	0.02632	1016.33	33	chr5	142614066	.	C	T	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=738;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.299;SOR=0.821	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1176	18	0	1	0
chr5	143314103	143314103	G	A	exonic	NR3C1	.	nonsynonymous SNV	NR3C1:NM_000176:exon3:c.C1250T:p.P417L,NR3C1:NM_001018074:exon3:c.C1250T:p.P417L,NR3C1:NM_001018075:exon3:c.C1250T:p.P417L,NR3C1:NM_001018076:exon3:c.C1250T:p.P417L,NR3C1:NM_001018077:exon3:c.C1250T:p.P417L,NR3C1:NM_001020825:exon3:c.C1250T:p.P417L,NR3C1:NM_001024094:exon3:c.C1250T:p.P417L,NR3C1:NM_001204258:exon3:c.C1172T:p.P391L,NR3C1:NM_001204259:exon3:c.C995T:p.P332L,NR3C1:NM_001204260:exon3:c.C983T:p.P328L,NR3C1:NM_001204261:exon3:c.C959T:p.P320L,NR3C1:NM_001204262:exon3:c.C305T:p.P102L,NR3C1:NM_001204263:exon3:c.C260T:p.P87L,NR3C1:NM_001204264:exon3:c.C245T:p.P82L,NR3C1:NM_001204265:exon3:c.C1250T:p.P417L,NR3C1:NM_001364180:exon3:c.C1250T:p.P417L,NR3C1:NM_001364181:exon3:c.C1250T:p.P417L,NR3C1:NM_001364182:exon3:c.C1250T:p.P417L,NR3C1:NM_001364184:exon3:c.C1250T:p.P417L,NR3C1:NM_001364185:exon3:c.C1250T:p.P417L,NR3C1:NM_001364183:exon4:c.C1250T:p.P417L	Glucocorticoid resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.114925854982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.056	0.49942	T	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.108387	1	0.81001	D	1.32	0.33002	L	-1.63	0.82715	D	-1.69	0.44852	N	0.502	0.54845	0.551	0.91243	D	0.729	0.90715	D	10	0.48957005	0.60911	T	0.114926	0.79394	D	0.460	0.75755	0.282	0.23801	0.954046782663	0.95355	0.3652941094978467	0.36443	0.159160048467	0.17961	0.698033928871	0.66861	T	0.528324	0.83631	D	0.112752	0.65636	D	-0.0758159	0.65207	T	0.938493311405182	0.60916	D	0.933207	0.79780	D	0.39241484	0.60203	0.35402888	0.60954	0.39241484	0.60204	0.35402888	0.60953	-5.613	0.43219	T	.	.	0.151	0.35056	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.092788	0.85052	28.5	0.99877071258869732	0.95410	0.98266	0.81082	D	AEFDGBCI	0.855895	0.77306	D	0.729046689045093	0.81536	7.545445	0.740674580027144	0.85458	8.586872	1.0	0.98316	0.75658	0.98901	0	0.749866	0.99406	0	0.653264	0.51672	0	0.656636	0.63459	0	.	.	5.72	5.72	0.89380	7.659000	0.82750	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:1.0:0.0	19.866	0.96800	875	0.30485	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	910.33	34	chr5	143314103	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.054;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	146013954	146013954	C	T	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon5:c.C952T:p.R318C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	.	.	0.00199681	0.0004	0	0	0.0001	0	1.5e-05	0.0011	0.0027	0.0003752	58	154602	rs563187260	0.0002	0.0002	9.256e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	2.987e-05	0	0	0	0	0	1.799e-05	0.0002	0.0023	0.0002	0.0002	6.426e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	2.408e-05	0	0	0	0	0	0	5.881e-05	0	0.0044	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.661	0.52837	P	0.000192	0.48115	D	0.149558	0.999757	0.48800	D	2.92	0.84325	M	3.02	0.08986	T	-6.88	0.93217	D	0.658	0.67391	-1.1168	0.02545	T	0.030	0.12892	T	10	0.011615366	0.00253	T	.	.	.	0.240	0.54500	0.408	0.44230	0.680157959374	0.67743	0.6706399589755375	0.67001	0.592427251198	0.54633	0.268016815186	0.05883	T	0.397617	0.75594	T	-0.336196	0.05656	T	-0.260936	0.48731	T	0.309636138054752	0.25399	T	0.872513	0.57956	D	0.53195524	0.68942	0.38716376	0.63591	0.53195524	0.68943	0.38716376	0.63591	-4.839	0.35042	T	.	.	0.085	0.10014	B	.;.	.;.	4.729138	0.76146	26.5	0.99926649442289583	0.99103	0.96029	0.67212	D	AEFBI	0.746679	0.68897	D	0.434694804471161	0.63341	4.565899	0.495105522651378	0.67663	5.114546	0.999626377670151	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	3.907000	0.56061	1.818000	0.29017	0.549000	0.26987	1.000000	0.71638	0.004000	0.18990	0.969000	0.54022	0.0:1.0:0.0:0.0	19.683	0.95965	806	0.43582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2895.33	37	chr5	146013954	.	C	T	2895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=932;ExcessHet=0;FS=0.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.745;SOR=0.648	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	146062613	146062613	C	T	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon10:c.C2102T:p.T701I	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0136459188882	.	0.000199681	0.0002	0	0	0	0	0	0	0.0015	0.0001682	26	154602	rs374780252	0.0001	0.0001	6.262e-05	0.0002	0.0018	9.94e-05	9.348e-05	0.0016	0.0015	0	0	0	2.519e-05	0	0	8.993e-07	8.279e-05	0.0018	6.564e-05	6.561e-05	2.569e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	2.405e-05	0	0	0	0	0	0	0	0	0.0019	0.0	0.91255	D	0.067	0.44302	T	0.999	0.77913	D	0.996	0.84481	D	0.000142	0.49130	D	0.086125	0.961232	0.38224	D	2.295	0.65404	M	2.1	0.19990	T	-1.42	0.34992	N	0.561	0.71321	-1.0530	0.13574	T	0.097	0.36315	T	10	0.04839596	0.04285	T	0.013646	0.33213	T	0.151	0.39764	0.229	0.15556	0.68042540919	0.67770	0.15708751214226535	0.15629	0.578555744131	0.53760	0.536534905434	0.43956	T	0.010634	0.09586	T	-0.369288	0.03630	T	-0.316463	0.42960	T	0.160788685083389	0.17930	T	0.757724	0.38135	T	0.35754892	0.57649	0.43221453	0.66814	0.35754892	0.57649	0.43221453	0.66814	-5.225	0.39195	T	.	.	0.239	0.47316	B	.;.	.;.	4.380359	0.67514	25.1	0.99900250088810771	0.97199	0.95632	0.65502	D	AEFBI	0.619197	0.60472	D	0.453892580698573	0.64423	4.696668	0.466821559144814	0.65806	4.870317	0.995455974637563	0.34136	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	4.065000	0.57229	3.286000	0.37268	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.990000	0.65344	0.0:1.0:0.0:0.0	16.004	0.80122	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1686.33	177	chr5	146062613	.	C	T	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.445;DP=1435;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.02;SOR=0.56	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1418	18	0	1	0
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R,LARS1:NM_001317964:exon4:c.A245G:p.K82R,LARS1:NM_020117:exon4:c.A245G:p.K82R	.	437	1074	9	2	0	13	0.00601573	.	.	.	141780	not_provided|Infantile_liver_failure_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.02632	634.33	33	chr5	146171959	.	T	C	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=656;ExcessHet=0;FS=2.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.347;SOR=0.4	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	18	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,11:67:61:.:.:0,61,1021:.	10	0	7	2
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	40.27	78	chr5	146286010	.	T	C	40.27	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.206;DP=1212;ExcessHet=0;FS=123.034;InbreedingCoeff=-0.0645;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-1.047;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:7:.:.:0,7,1434:.	16	0	1	2
chr5	146459073	146459078	CAGGCC	-	exonic	TCERG1	.	nonframeshift deletion	TCERG1:NM_001040006:exon4:c.628_633del:p.A241_Q242del,TCERG1:NM_001382548:exon4:c.628_633del:p.A241_Q242del,TCERG1:NM_006706:exon4:c.628_633del:p.A241_Q242del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	.	0.0017	0.0182	0.0008	0.0004	0	0.0003	0	0.0004	0.0014165	219	154602	rs770017912	0.0012	0.0012	0.0014	0.0011	0.0295	0.0012	0.0012	0.0280	0.0274	0.0295	0.0016	3.835e-05	0.0014	3.772e-05	0.0035	0.0004	0.0021	0.0007	0.0084	0.0084	0.0084	0.0084	0.0286	0.0080	0.0078	0.0272	0.0267	0.0286	0	0.0031	0	0.0010	0.0002	0	0.0005	0.0049	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5121.34	95	chr5	146459072	.	TCAGGCC	T	5121.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=1126;ExcessHet=0.7564;FS=0.403;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=15.47;ReadPosRankSum=0.214;SOR=0.724	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr5	146459072	146459072	-	CAGGCC	exonic	TCERG1	.	nonframeshift insertion	TCERG1:NM_001040006:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ,TCERG1:NM_001382548:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ,TCERG1:NM_006706:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0004	0.0003	0.0066	0.0003	0.0003	0.0024	0.0011	0.0001153	3	26028	rs747040868	0.0011	0.0011	0.0011	0.0011	0.0146	0.0011	0.0010	0.0137	0.0133	0.0012	0.0010	0.0019	0.0146	0.0001	0.0017	0.0006	0.0016	0.0018	0.0018	0.0018	0.0017	0.0019	0.0205	0.0016	0.0016	0.0173	0.0161	0.0018	0	0.0019	0.0018	0.0205	0	0.0105	0.0008	0.0019	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5121.34	95	chr5	146459072	.	T	TCAGGCC	5121.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=1126;ExcessHet=0.7564;FS=0.403;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=15.47;ReadPosRankSum=0.214;SOR=0.724	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	2870.83	35	chr5	147828053	.	G	A	2870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.07;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	17	0	2	0
chr5	148089545	148089545	A	G	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon7:c.A526G:p.T176A,SPINK5:NM_001127699:exon7:c.A526G:p.T176A,SPINK5:NM_006846:exon7:c.A526G:p.T176A	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1417784	Netherton_syndrome	MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0119017618999	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200801701	6.848e-06	6.84e-06	6.814e-06	6.883e-06	0.0002	3.46e-06	2.53e-06	4.366e-05	2.772e-05	0	0.0001	0	0	0	0.0002	1.8e-06	1.659e-05	1.16e-05	0	6.57e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.034	0.46910	D	0.017	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.004433	0.33751	N	0.136348	0.943325	0.26724	N	3.155	0.88459	M	3.47	0.05188	T	-2.36	0.54217	N	0.535	0.63798	-1.0117	0.26385	T	0.052	0.22230	T	10	0.4194218	0.56762	T	0.011902	0.29978	T	0.211	0.50185	0.499	0.58991	0.442160178816	0.43838	0.351339520916177	0.35047	0.478884378135	0.46947	0.404480934143	0.25692	T	0.162314	0.50693	T	-0.221705	0.17761	T	-0.330538	0.41410	T	0.724844932556152	0.41945	D	0.855914	0.54393	D	0.12349593	0.28997	0.13748847	0.32862	0.12349593	0.28997	0.13748847	0.32861	-8.368	0.63552	D	0.6493473419646145	0.72125	0.533	0.69489	A	.;.;.;.	.;.;.;.	4.356986	0.66971	25.0	0.99808675898128141	0.89264	0.97114	0.72771	D	AEFDGBI	0.388997	0.46839	N	0.61901151712136	0.74377	6.122546	0.617384181442149	0.76201	6.447725	0.999999993481299	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.180000	0.64886	11.128000	0.86723	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.913	0.57586	850	0.35610	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2272.33	38	chr5	148089545	.	A	G	2272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.296;DP=940;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.709;SOR=0.63	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.02632	484.33	53	chr5	148095825	.	C	T	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.801;DP=1001;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.821;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1148:.	18	0	1	0
chr5	148427404	148427404	T	A	exonic	FBXO38	.	nonsynonymous SNV	FBXO38:NM_030793:exon15:c.T2110A:p.C704S,FBXO38:NM_205836:exon15:c.T2110A:p.C704S	Neuronopathy, distal hereditary motor, type IID, Autosomal dominant	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00434081349861	.	.	0.0002	0	0.0003	0	0	1.505e-05	0	0.0010	0.0001358	21	154602	rs752609855	7.319e-05	7.319e-05	1.497e-05	0.0001	0.0012	6.181e-05	5.741e-05	0.0010	0.0010	0	0	0	0	0	0	0	1.656e-05	0.0012	5.909e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.168	0.23007	T	0.031	0.53788	D	0.397	0.34783	B	0.092	0.30031	B	0.000023	0.55875	D	0.125051	0.968376	0.81001	D	0.805	0.20218	L	1.5	0.31205	T	-2.55	0.55181	D	0.468	0.50508	-1.0813	0.07099	T	0.046	0.19839	T	10	0.03580627	0.01846	T	0.004341	0.10561	T	0.132	0.35948	0.277	0.23004	0.198222871337	0.19423	0.20989674395733204	0.20905	0.585960603407	0.54216	0.598226070404	0.52653	T	0.168335	0.51530	T	-0.241688	0.15135	T	-0.180542	0.56474	T	0.0804791084612772	0.10049	T	0.764224	0.39120	T	0.1715366	0.37793	0.29069614	0.55093	0.1715366	0.37793	0.29069614	0.55092	-1.307	0.01412	T	0.0990436158259977	0.07150	0.091	0.27821	B	.;.	.;.	2.524063	0.32617	19.10	0.88048277056236057	0.17677	0.97948	0.78351	D	AEFDBI	0.610638	0.59939	D	-0.123353629686149	0.36378	2.101872	0.0927476416462459	0.44184	2.705037	0.999975699794247	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	1.806000	0.38530	5.108000	0.47491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.140	0.72280	549	0.72275	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1787.33	33	chr5	148427404	.	T	A	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=791;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.145;SOR=0.976	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr5	148827490	148827490	C	G	exonic	ADRB2	.	nonsynonymous SNV	ADRB2:NM_000024:exon1:c.C659G:p.S220C	Beta-2-adrenoreceptor agonist, reduced response to (3)	.	.	.	.	.	.	.	.	.	.	691775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.279	.	0.0082	0.00978435	0.0025	0.0271	0.0012	0	0	0.0001	0	6.056e-05	0.002445	378	154602	rs3729943	0.0008	0.0008	0.0009	0.0006	0.0265	0.0007	0.0007	0.0251	0.0245	0.0265	0.0012	0	0	1.873e-05	0.0003	7.194e-05	0.0018	0.0001	0.0072	0.0072	0.0075	0.0068	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0020	0	0	0	0	7.352e-05	0.0062	0.0004	0.028	0.46129	D	0.184	0.29056	T	0.997	0.70673	D	0.909	0.64565	D	0.000035	0.55875	D	0.161473	0.994721	0.42392	D	1.1	0.28011	L	-0.62	0.71895	T	-1.61	0.38734	N	0.359	0.40063	-0.4713	0.69679	T	0.240	0.60797	T	10	0.012524247	0.00269	T	.	.	.	0.279	0.59619	.	.	0.852084556051	0.85066	0.6714026814903222	0.67078	1.33985381035	0.83824	0.448587357998	0.31752	T	0.184967	0.53779	T	-0.42478	0.01595	T	-0.362671	0.37743	T	0.0217969034508663	0.00885	T	0.892711	0.62952	D	0.63405156	0.74514	0.46735463	0.69099	0.63405156	0.74515	0.46735463	0.69099	-2.817	0.08341	T	0.18211024657850605	0.23515	0.072	0.04277	B	.	.	4.211701	0.63633	24.6	0.98867703912175409	0.47580	0.78950	0.39033	D	AEFDBCI	0.365940	0.45394	N	0.550538824271304	0.70115	5.454351	0.585787474970697	0.73919	6.05005	0.999999995949295	0.74766	0.625279	0.40028	0	0.541556	0.11502	0	0.687403	0.62504	0	0.627883	0.49187	0	.	.	5.61	5.61	0.85347	1.155000	0.31311	6.033000	0.52942	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.995000	0.73285	0.0:0.8671:0.1329:0.0	16.181	0.81711	783	0.47268	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2897.33	143	chr5	148827490	.	C	G	2897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=1513;ExcessHet=0;FS=2.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.368;SOR=0.891	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr5	149027919	149027919	G	A	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon11:c.C1813T:p.R605C	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	682993	Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|Inborn_genetic_diseases	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0809683124471	.	.	1.653e-05	0	8.645e-05	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs778936762	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0.0002	9.892e-06	9.934e-05	8.115e-05	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.215	0.26306	T	0.997	0.70673	D	0.614	0.51198	P	0.062451	0.22097	N	0.499855	0.995649	0.23238	N	1.59	0.40313	L	-0.25	0.67011	T	-1.28	0.32185	N	0.353	0.40164	-0.8172	0.54109	T	0.238	0.60535	T	10	0.3426082	0.51289	T	0.080968	0.73579	D	0.211	0.50185	0.615	0.74884	0.833541382194	0.83195	0.2751183875176259	0.27424	0.202593536193	0.22681	0.240893498063	0.02871	T	0.117394	0.43745	T	-0.227634	0.16963	T	-0.328088	0.41681	T	0.370238393545151	0.27806	T	0.893211	0.63049	D	0.12457294	0.29224	0.08722421	0.20261	0.12457294	0.29224	0.08722421	0.20260	-5.184	0.39466	T	0.0693069268108061	0.02587	0.100	0.17700	B	.;.	.;.	4.449677	0.69162	25.3	0.99862609854475104	0.94093	0.94601	0.61699	D	AEFBI	0.789647	0.71878	D	0.167225876328552	0.49629	3.161294	0.190843216110881	0.49344	3.138719	0.999783761818744	0.43007	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	6.04	3.18	0.35615	6.754000	0.74705	6.464000	0.55700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.1334:0.1211:0.7455:0.0	10.660	0.44892	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1285.33	34	chr5	149027919	.	G	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=856;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.878;SOR=0.532	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr5	149609689	149609689	C	T	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon4:c.C452T:p.A151V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0142000512025	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs367808249	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0012	0.0011	2.992e-05	4.472e-05	0	7.557e-05	0	0.0014	9.083e-05	0.0002	0.0014	9.191e-05	9.186e-05	3.853e-05	0.0001	0.0004	5.523e-05	4.361e-05	7.299e-05	4.239e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	0.015	0.52492	D	0.024	0.56640	D	0.88	0.48402	P	0.435	0.45529	B	0.031724	0.25127	N	0.452160	0.999999	0.08975	N	1.995	0.54099	M	1.57	0.29342	T	-2.16	0.48850	N	0.43	0.46928	-1.0542	0.13251	T	0.081	0.31972	T	10	0.055144966	0.05980	T	0.014	0.34156	T	0.140	0.37593	.	.	0.233785782151	0.22967	0.21107730719980253	0.21023	0.328092043764	0.34932	0.374087542295	0.21415	T	0.009603	0.08738	T	-0.483774	0.00703	T	-0.497764	0.22580	T	0.0778579129934393	0.09711	T	0.744825	0.36507	T	0.067971	0.14768	0.06867627	0.14374	0.067971	0.14768	0.06867627	0.14374	-6.906	0.53343	T	.	.	0.098	0.16319	B	.	.	1.770497	0.22515	15.65	0.99824931573491249	0.90764	0.72665	0.35560	D	AEFBI	0.192722	0.31987	N	-0.287230857891508	0.29640	1.645535	-0.373906585824855	0.25778	1.419691	0.999996875180792	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.5	3.71	0.41733	3.303000	0.51565	2.058000	0.30379	-0.817000	0.03001	0.874000	0.30870	0.968000	0.29604	0.001000	0.02609	0.1464:0.7793:0.0:0.0743	9.036	0.35449	799	0.44747	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1089.33	57	chr5	149609689	.	C	T	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=804;ExcessHet=0;FS=3.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.191;SOR=0.368	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1053	3729.43	42	chr5	149621740	.	G	A	3729.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.22;DP=873;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.199;SOR=0.668	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	15	0	4	0
chr5	149628896	149628896	A	G	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon12:c.A1748G:p.N583S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00615343447298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.694	0.05844	T	0.003	0.11197	B	0.006	0.12133	B	0.696891	0.06179	N	1.129870	1	0.08975	N	0	0.06538	N	0.69	0.51714	T	0.11	0.05706	N	0.075	0.04913	-0.9960	0.31028	T	0.053	0.22462	T	10	0.054586947	0.05833	T	0.006153	0.16111	T	0.028	0.06331	0.25	0.18757	0.0401082797425	0.02173	0.10894628919232965	0.10823	0.0726449389514	0.08142	0.241830527782	0.02957	T	5.16E-4	0.00194	T	-0.360984	0.04074	T	-0.756305	0.03246	T	0.0859324708580971	0.10728	T	0.530047	0.17581	T	0.031848542	0.03099	0.028200308	0.01035	0.031848542	0.03099	0.028200308	0.01035	-1.459	0.01682	T	.	.	0.064	0.01715	B	.	.	-1.718967	0.00187	0.003	0.27578895801086245	0.01376	0.00901	0.03531	N	AEFDBI	0.021978	0.01042	N	-1.55379329916806	0.01513	0.06605129	-1.63521647991649	0.01454	0.06577901	0.999999727366376	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	-8.42	0.00836	-1.394000	0.02624	-3.677000	0.02612	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1785:0.3699:0.4516:0.0	8.614	0.32984	782	0.47442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1162.33	83	chr5	149628896	.	A	G	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=936;ExcessHet=0;FS=3.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.77;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,31:68:99:0|1:149628896_A_G:1176,0,1420:149628896	18	0	1	0
chr5	149830813	149830813	A	G	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_133263:exon4:c.A512G:p.D171G	.	.	.	.	.	.	.	.	.	.	.	3370070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0130960243831	7.7e-05	.	0.0001	9.61e-05	8.637e-05	0	0	0.0001	0.0011	6.057e-05	9.06e-05	14	154602	rs147369640	9.508e-05	9.508e-05	8.576e-05	0.0001	0.0002	8.201e-05	7.716e-05	9.556e-05	8.933e-05	2.987e-05	4.472e-05	3.826e-05	0	0	0.0002	0.0001	6.623e-05	6.956e-05	7.887e-05	7.881e-05	0.0001	5.382e-05	0.0002	4.498e-05	3.513e-05	9.049e-05	7.013e-05	0	0	0	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.053	0.47336	T	0.976	0.73220	D	0.675	0.59072	P	0.002199	0.37053	N	0.251802	0.999337	0.81001	D	2.52	0.73523	M	3.04	0.08810	T	-1.98	0.45769	N	0.175	0.21839	-1.1846	0.00306	T	0.054	0.22731	T	10	0.21003586	0.37385	T	0.013096	0.32235	T	0.165	0.42395	.	.	0.403424677067	0.39955	0.18513379372472138	0.18431	0.669303631781	0.59337	0.441526293755	0.30785	T	0.272801	0.64521	T	-0.233538	0.16184	T	-0.357903	0.38295	T	0.545526564121246	0.34310	D	0.769823	0.39947	T	0.19758883	0.41629	0.22997223	0.48085	0.19758883	0.41629	0.22997223	0.48084	-2.431	0.05326	T	.	.	0.137	0.37558	B	.;.	.;.	4.123565	0.61658	24.4	0.99798160172384975	0.88283	0.96496	0.69429	D	AEFDBI	0.607323	0.59733	D	0.502814364625602	0.67256	5.057423	0.480591250473762	0.66706	4.98699	0.999999994483285	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.29	5.29	0.74430	6.335000	0.72901	8.094000	0.76531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	1.0:0.0:0.0:0.0	15.190	0.72721	816	0.41767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1006.33	35	chr5	149830813	.	A	G	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.888;DP=747;ExcessHet=0;FS=4.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.57;SOR=1.154	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1387	18	0	1	0
chr5	149836596	149836596	C	T	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon7:c.C2024T:p.P675L,PPARGC1B:NM_001172699:exon7:c.C1949T:p.P650L,PPARGC1B:NM_133263:exon8:c.C2141T:p.P714L	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0107	0.0081869	0.0028	0.0310	0.0014	0	0	3.014e-05	0	0.0001	0.0026196	405	154602	rs45509002	0.0009	0.0009	0.0011	0.0008	0.0345	0.0009	0.0009	0.0328	0.0322	0.0345	0.0013	0	0	0	0.0003	3.687e-05	0.0018	0.0001	0.0087	0.0087	0.0091	0.0083	0.0304	0.0083	0.0081	0.0290	0.0284	0.0304	0	0.0027	0	0	0	0	7.35e-05	0.0071	0	0.021	0.49117	D	0.023	0.63918	D	0.998	0.73220	D	0.9	0.64494	P	0.000416	0.44736	D	0.158723	0.998511	0.45021	D	2.765	0.80766	M	2.95	0.09728	T	-4.48	0.79143	D	0.563	0.58713	-1.1987	0.00159	T	0.019	0.08033	T	10	0.0048264563	0.00102	T	.	.	.	0.128	0.35103	.	.	0.393344232652	0.38951	0.26649894556566217	0.26562	0.631211528713	0.57086	0.517283380032	0.41243	T	0.486598	0.81301	T	-0.509972	0.00502	T	-0.482318	0.24200	T	0.045071126800616	0.04615	T	0.883612	0.60617	D	0.1542476	0.34923	0.15891685	0.37088	0.1542476	0.34923	0.15891685	0.37087	-6.04	0.47231	T	.	.	0.168	0.39832	B	.;.;.;.	.;.;.;.	4.017213	0.59304	24.1	0.99877119108409462	0.95410	0.77742	0.38260	D	AEFDGBCI	0.143254	0.26591	N	0.405420079669847	0.61718	4.376942	0.385459825948099	0.60667	4.25692	0.999999396581944	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.408882	0.06424	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	2.480000	0.44865	4.891000	0.45764	0.599000	0.40250	0.955000	0.33325	1.000000	0.68203	0.623000	0.31974	0.0:0.9176:0.0:0.0824	11.663	0.50620	816	0.41767	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	33	chr5	149836596	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=724;ExcessHet=0;FS=6.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.009;SOR=1.09	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	18	0	1	0
chr5	149884554	149884554	T	C	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon16:c.A1952G:p.N651S	Retinitis pigmentosa 43	0	1499	21	2	0	25	0.00826993	.	.	.	302142	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0153810589377	0.0002	0.000998403	0.0014	0.0002	0.0010	0	0.0002	0.0005	0.0033	0.0072	0.0011643	180	154602	rs149380104	0.0008	0.0008	0.0006	0.0010	0.0068	0.0007	0.0007	0.0064	0.0062	0.0001	0.0005	0.0002	0.0001	0	0.0031	0.0004	0.0011	0.0068	0.0006	0.0006	0.0005	0.0006	0.0066	0.0005	0.0004	0.0048	0.0042	9.644e-05	0	0.0006	0	0.0002	0	0.0068	0.0005	0.0019	0.0066	0.675	0.04495	T	0.737	0.05398	T	0.553	0.38185	P	0.34	0.42389	B	0.000002	0.62929	N	0.096275	0.996839	0.43448	D	0.205	0.09354	N	-0.87	0.74583	T	-1.64	0.39314	N	0.264	0.31590	-0.8115	0.54460	T	0.204	0.56183	T	10	0.011482209	0.00251	T	0.015381	0.36078	T	0.205	0.49236	.	.	0.706766155188	0.70421	0.08502549280128813	0.08436	0.0791372595417	0.08904	0.506625831127	0.39750	T	0.264909	0.66212	T	-0.547104	0.00304	T	-0.555068	0.16843	T	0.0326612262952046	0.02415	T	0.919908	0.71037	D	0.12048073	0.28348	0.12484691	0.30087	0.12048073	0.28348	0.12484691	0.30087	-5.833	0.44861	T	0.14397161505066092	0.16411	0.142	0.31125	B	.;.;.	.;.;.	2.419969	0.31114	18.64	0.97492051901368348	0.34245	0.90674	0.52048	D	AEFDI	0.623784	0.60760	D	-0.161241600219064	0.34758	1.987857	-0.011555677328265	0.39191	2.320061	0.999999819325166	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.72	4.56	0.55644	3.963000	0.56480	3.518000	0.38882	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0815:0.0:0.9185	9.748	0.39624	781	0.47532	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015267	0.02632	1413.33	33	chr5	149884554	.	T	C	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.253;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.004;SOR=0.718	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr5	149944375	149944375	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G299A:p.R100Q	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	298113	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	0.0613741473385	7.7e-05	0.000599042	0.0005	9.612e-05	8.639e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199738915	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	6.709e-05	3.826e-05	2.519e-05	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	4.816e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0.0005	0.0037	0.052	0.39097	T	0.049	0.48336	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.355	0.67662	M	-0.41	0.69413	T	-3.22	0.64939	D	0.896	0.89577	-0.1886	0.77963	T	0.460	0.79066	T	10	0.096933514	0.17421	T	0.061374	0.68310	D	0.620	0.85249	.	.	0.919440382184	0.91862	0.3172496280650157	0.31637	0.530887566626	0.50614	0.45652359724	0.32834	T	0.29179	0.85714	T	-0.0983919	0.36693	T	0.0825257	0.75747	D	0.162289581350882	0.18039	T	0.990041	0.96927	D	0.67535186	0.76720	0.47112358	0.69334	0.67535186	0.76721	0.47112358	0.69335	-11.141	0.80425	D	0.3554479733420268	0.45233	0.756	0.75317	P	.;.;.	.;.;.	5.246197	0.88079	29.5	0.99955934460348494	0.99975	0.98544	0.83920	D	AEFBI	0.937248	0.93476	D	0.77976261141028	0.84823	8.397035	0.76699137000927	0.87421	9.21608	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1382.33	35	chr5	149944375	.	C	T	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=773;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.06;SOR=0.777	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr5	149944400	149944400	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G274A:p.D92N	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	296294	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.784	0.113893226854	7.7e-05	0.000599042	0.0005	9.612e-05	8.637e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199924410	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.987e-05	6.708e-05	3.826e-05	0	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0.0003	0	0	0	0.0001	0.0005	0.0037	0.014	0.53172	D	0.004	0.76473	D	0.828	0.46021	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.555	0.93317	H	-0.79	0.73739	T	-4.06	0.74582	D	0.897	0.90025	0.401	0.89115	D	0.586	0.85167	D	10	0.15233639	0.28777	T	0.113893	0.79256	D	0.784	0.92827	.	.	0.959201930552	0.95876	0.46917647258422523	0.46836	0.492454931877	0.47890	0.571771860123	0.48929	T	0.477473	0.93548	T	-0.286847	0.09955	T	-0.188177	0.55760	T	0.322011649589756	0.25903	T	0.975602	0.91418	D	0.7080398	0.78500	0.6784628	0.81113	0.7080398	0.78501	0.6784628	0.81113	-11.987	0.84788	D	0.5802175747067403	0.64707	0.301	0.53080	B	.;.;.	.;.;.	4.771144	0.77233	26.7	0.99902036683565598	0.97350	0.98544	0.83920	D	AEFBI	0.940572	0.94270	D	0.809232720125816	0.86682	8.963824	0.788593331931833	0.88989	9.794523	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1343.33	35	chr5	149944400	.	C	T	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.099;DP=770;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.076;SOR=0.476	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr5	150130603	150130603	G	A	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon8:c.C1111T:p.R371C,PDGFRB:NM_001355017:exon9:c.C820T:p.R274C,PDGFRB:NM_002609:exon9:c.C1303T:p.R435C	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.128320353724	.	.	9.92e-05	0	8.643e-05	0	0	6.024e-05	0	0.0004	7.76e-05	12	154602	rs747109578	8.08e-05	8.072e-05	7.358e-05	8.809e-05	0.0003	6.874e-05	6.427e-05	0.0001	9.463e-05	0	6.757e-05	0	0.0001	0	0.0003	8.097e-05	4.972e-05	0.0002	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0004	0.013	0.53900	D	0.064	0.44905	T	0.996	0.68779	D	0.54	0.48825	P	0.013397	0.28856	N	0.232848	0.966836	0.38555	D	2.045	0.56016	M	-1.02	0.76300	T	-1.4	0.34596	N	0.38	0.42149	-0.2721	0.75755	T	0.380	0.73662	T	10	0.3376115	0.50880	T	0.12832	0.81025	D	0.374	0.69273	.	.	0.59877475153	0.59557	0.487133571019552	0.48633	0.67298744556	0.59568	0.40035623312	0.25118	T	0.380317	0.74288	T	-0.18254	0.23358	T	-0.207834	0.53901	T	0.300993829965591	0.25045	T	0.960654	0.85269	D	0.15857181	0.35668	0.08823551	0.20560	0.15857181	0.35667	0.08823551	0.20559	-6.738	0.52096	T	0.10448994620587597	0.08179	0.317	0.54272	B	.	.	5.576267	0.92262	32	0.99915807950699997	0.98379	0.66582	0.33128	D	AEFGBCI	0.380760	0.46328	N	0.379466102029119	0.60312	4.218624	0.37711130994364	0.60158	4.200207	0.999995002281883	0.74766	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.584449	0.35598	0	.	.	4.87	3.9	0.44240	3.085000	0.49849	9.400000	0.80637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.128:0.5325:0.3394	6.710	0.22458	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1178.33	37	chr5	150130603	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.807;DP=727;ExcessHet=0;FS=6.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.098;SOR=0.385	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr5	150167201	150167201	C	T	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.C325T:p.P109S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.20966205449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.02418	T	0.974	0.02459	T	0.149	0.27956	B	0.054	0.25828	B	0.002645	0.36173	U	0.226113	0.909549	0.36374	D	0.81	0.20779	L	1.06	0.39781	T	0.52	0.02853	N	0.094	0.07398	-1.0615	0.11385	T	0.055	0.23148	T	10	0.10266492	0.18830	T	0.209662	0.87211	D	0.041	0.10877	0.314	0.28935	0.258436476835	0.25460	0.5494430401508557	0.54870	1.18802059473	0.80198	0.847805976868	0.89283	D	0.057668	0.30631	T	-0.203403	0.20315	T	-0.529951	0.19292	T	0.697085082530975	0.40580	D	0.30237	0.05722	T	0.03396589	0.03719	0.07668303	0.17008	0.03396589	0.03719	0.07668303	0.17008	-5.523	0.42082	T	.	.	0.074	0.04975	B	.	.	3.153783	0.42703	21.6	0.99191220138559255	0.54994	0.75018	0.36714	D	AEFDBI	0.211836	0.33759	N	-0.497057728662331	0.22176	1.18233	-0.364266902732081	0.26071	1.43772	0.999999435301337	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.54	3.54	0.39650	3.038000	0.49473	2.144000	0.30864	0.458000	0.21545	1.000000	0.71638	0.993000	0.31925	0.813000	0.38311	0.0:0.8848:0.0:0.1152	9.696	0.39324	657	0.62240	Caudal-like activation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	619.33	13	chr5	150167201	.	C	T	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.775;DP=464;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=1.19;SOR=0.581	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,661	18	0	1	0
chr5	150167303	150167303	G	A	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.G427A:p.G143R	.	422	1029	67	4	0	75	0.0351617	.	.	.	215311	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	.	.	0.00259585	0.0161	0	0	0	.	0.0116	0	0.25	0.0005757	89	154602	rs539576362	0.0015	0.0016	0.0014	0.0015	0.0170	0.0014	0.0014	0.0133	0.0120	0.0006	0.0038	0.0058	0	0	0.0170	0.0010	0.0035	0.0119	0.0017	0.0017	0.0018	0.0017	0.0128	0.0016	0.0015	0.0103	0.0093	0.0003	0	0.0032	0.0052	0.0002	0	0.0240	0.0015	0.0057	0.0128	0.558	0.06421	T	0.327	0.18732	T	0.037	0.20876	B	0.028	0.21332	B	0.982722	0.07851	N	1.008340	0.999101	0.21619	N	1.61	0.41143	L	0.96	0.42888	T	-0.03	0.07444	N	0.181	0.24510	-1.0305	0.20292	T	0.096	0.36212	T	10	0.002599448	0.00040	T	.	.	.	0.098	0.28162	0.442	0.49811	0.363336886782	0.35939	0.5788254701231486	0.57811	0.459721899748	0.45540	0.822305321693	0.85381	D	0.105675	0.41636	T	-0.500389	0.00569	T	-0.556305	0.16727	T	0.0584471576926685	0.06921	T	0.627137	0.25394	T	0.056302194	0.11059	0.095683105	0.22703	0.056302194	0.11059	0.095683105	0.22702	-8.218	0.62546	D	.	.	0.295	0.58843	B	.;.	.;.	3.424252	0.47561	22.5	0.99039833586411208	0.51006	0.94623	0.61772	D	AEFDBI	0.563014	0.57037	D	-0.207219573633932	0.32837	1.856359	-0.0884118151448955	0.35868	2.080283	0.999999345968182	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.73	3.73	0.41982	3.614000	0.53901	5.616000	0.49070	-0.202000	0.08738	0.994000	0.38300	1.000000	0.68203	0.717000	0.34675	0.1112:0.0:0.8888:0.0	8.467	0.32123	672	0.60758	Caudal-like activation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009855	0.000000	0.012324	0.000000	0.000000	0.021277	0.012397	0.004630	0.02632	245.33	15	chr5	150167303	.	G	A	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.9;SOR=0.73	GT:AD:DP:GQ:PL	0/1:14,12:26:99:259,0,295	18	0	1	0
chr5	150368786	150368786	A	G	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon5:c.A449G:p.N150S,TCOF1:NM_001008657:exon5:c.A449G:p.N150S,TCOF1:NM_001135243:exon5:c.A449G:p.N150S,TCOF1:NM_001135244:exon5:c.A449G:p.N150S,TCOF1:NM_001135245:exon5:c.A449G:p.N150S,TCOF1:NM_001195141:exon5:c.A449G:p.N150S,TCOF1:NM_001371623:exon5:c.A449G:p.N150S	Treacher Collins syndrome 1, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	521403	Inborn_genetic_diseases|Treacher_Collins_syndrome_1|TCOF1-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0139715005022	7.7e-05	.	4.963e-05	0	0.0002	0	0	0	0	0.0002	5.82e-05	9	154602	rs141805606	3.557e-05	3.557e-05	3.267e-05	3.851e-05	0.0002	2.762e-05	2.501e-05	8.885e-05	7.053e-05	0	0.0001	0	2.519e-05	1.876e-05	0	2.428e-05	6.623e-05	0.0002	1.97e-05	1.969e-05	1.285e-05	2.685e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.038	0.53172	D	0.49	0.24840	T	0.043	0.23997	B	0.014	0.21939	B	0.080933	0.20895	N	0.349077	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-1.92	0.45222	N	0.207	0.29081	-0.9425	0.42218	T	0.162	0.49715	T	10	0.085684	0.14489	T	0.013972	0.33765	T	0.074	0.21613	.	.	0.333326979144	0.32939	0.0660408273163782	0.06543	0.0641732032036	0.07151	0.244308650494	0.03192	T	0.160811	0.50480	T	-0.414984	0.01842	T	-0.541723	0.18128	T	0.0308077155491525	0.02115	T	0.89721	0.66542	D	0.042799138	0.06557	0.05996803	0.11343	0.042799138	0.06556	0.05996803	0.11342	-1.984	0.03151	T	0.1368363125262857	0.15000	0.076	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.665280	0.21236	15.11	0.64659046074297755	0.07555	0.68560	0.33848	D	ALL	0.053082	0.09533	N	-0.776680014300228	0.13920	0.6893033	-0.736079576396302	0.16066	0.8481003	0.999837248686893	0.43792	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.43	2.23	0.27189	1.844000	0.38910	3.042000	0.36085	0.756000	0.94297	0.912000	0.31733	0.960000	0.29291	0.139000	0.19909	0.7584:0.2416:0.0:0.0	6.753	0.22686	846	0.36215	.;.;.;.;.;Treacle protein domain;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	39	chr5	150368786	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.304;DP=730;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.339;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1475	18	0	1	0
chr5	150375799	150375799	G	A	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon11:c.G1552A:p.V518I,TCOF1:NM_001135245:exon11:c.G1552A:p.V518I,TCOF1:NM_001008657:exon12:c.G1783A:p.V595I,TCOF1:NM_001135243:exon12:c.G1783A:p.V595I,TCOF1:NM_001135244:exon12:c.G1783A:p.V595I,TCOF1:NM_001195141:exon12:c.G1783A:p.V595I,TCOF1:NM_001371623:exon12:c.G1783A:p.V595I	Treacher Collins syndrome 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	296447	not_specified|not_provided|Treacher_Collins_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0089	0.00239617	0.0077	0.0026	0.0029	0	0.0151	0.0112	0.0066	0.0012	0.0074579	1153	154602	rs75583421	0.0097	0.0097	0.0099	0.0096	0.0112	0.0096	0.0095	0.0111	0.0110	0.0013	0.0032	0.0094	0	0.0135	0.0005	0.0112	0.0081	0.0012	0.0078	0.0078	0.0076	0.0081	0.0111	0.0075	0.0073	0.0105	0.0102	0.0021	0	0.0072	0.0110	0	0.0166	0	0.0111	0.0085	0.0019	0.016	0.59928	D	0.162	0.42976	T	0.951	0.53992	P	0.76	0.56425	P	0.037673	0.01837	N	2.502770	1	0.08975	N	1.965	0.53209	M	-0.25	0.67011	T	-0.77	0.22508	N	0.113	0.14338	-0.8797	0.49786	T	0.249	0.61878	T	10	0.005758971	0.00128	T	.	.	.	0.136	0.36778	.	.	0.429154209284	0.42533	0.04733251895107793	0.04676	0.383352055737	0.39662	0.288181900978	0.08658	T	0.112068	0.42806	T	-0.441999	0.01258	T	-0.398283	0.33583	T	0.0196816857140967	0.00671	T	0.865313	0.59601	D	0.06207229	0.12925	0.046122603	0.06359	0.06864404	0.14973	0.054041408	0.09218	-4.972	0.39346	T	0.2441572400353352	0.33071	0.108	0.25429	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.222183	0.16164	12.36	0.99650463649884968	0.77254	0.17462	0.19848	N	AEFDBCI	0.056888	0.10553	N	-0.574713573974623	0.19715	1.03399	-0.663322229630827	0.17881	0.9527643	0.956405225962285	0.28245	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.16	1.02	0.19102	0.390000	0.20494	0.054000	0.14040	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.337000	0.25363	0.1128:0.1975:0.4867:0.203	2.166	0.03603	851	0.35303	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	909.33	36	chr5	150375799	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.583;DP=827;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.677;SOR=0.748	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr5	150896215	150896215	T	C	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.A916G:p.I306V,ZNF300:NM_052860:exon6:c.A1024G:p.I342V,ZNF300:NM_001172831:exon7:c.A1072G:p.I358V	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00239617	0.0021	0	8.766e-05	0.0001	0	0.0002	0.0033	0.0139	0.00174	269	154602	rs199921485	0.0009	0.0009	0.0006	0.0012	0.0121	0.0009	0.0008	0.0115	0.0113	2.989e-05	2.241e-05	0.0003	2.519e-05	0	0.0019	0.0002	0.0012	0.0121	0.0005	0.0005	0.0003	0.0007	0.0124	0.0004	0.0004	0.0099	0.0090	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0124	0.736	0.07259	T	0.321	0.20164	T	0.063	0.23376	B	0.103	0.30945	B	.	.	.	.	1	0.18612	N	-0.28	0.03718	N	2.27	0.17431	T	0.02	0.06739	N	0.13	0.14196	-0.9367	0.43134	T	0.017	0.06902	T	9	0.0086912215	0.00197	T	.	.	.	0.050	0.13987	.	.	0.27855597813	0.27464	0.011911820871451442	0.01151	0.274175235635	0.29914	0.695755243301	0.66532	T	0.006537	0.05971	T	-0.631214	0.00094	T	-0.668441	0.07708	T	0.0263360561209093	0.01451	T	0.157784	0.01400	T	0.032282185	0.03224	0.04254942	0.05093	0.032282185	0.03224	0.04254942	0.05093	-3.678	0.19895	T	.	.	0.223	0.46049	B	.;.;.;.	.;.;.;.	1.729140	0.22006	15.44	0.80443920630631982	0.13206	0.00021	0.00226	N	AEDBHCI	0.050430	0.08812	N	-0.788669896561286	0.13605	0.6714164	-0.657147146860922	0.18037	0.9617449	0.0136792501649907	0.12496	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.14	3.14	0.35196	-1.787000	0.01861	-1.973000	0.04409	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.1385:0.0:0.8615	5.032	0.13755	648	0.63242	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	1444.33	33	chr5	150896215	.	T	C	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.899;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.38;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1211	18	0	1	0
chr5	151030643	151030643	T	C	exonic	TNIP1	.	stoploss	TNIP1:NM_001364486:exon17:c.A1748G:p.X583W,TNIP1:NM_001252392:exon18:c.A1907G:p.X636W,TNIP1:NM_001252393:exon18:c.A1907G:p.X636W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.26e-05	0	0	0	0	0	0	8.147e-05	6.5e-06	1	154602	rs755178311	1.37e-06	1.368e-06	0	2.755e-06	2.33e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.25750	N	.	.	.	.	.	.	.	.	.	0.092	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.43722	0.01343	T	-0.765182	0.02929	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.730934	0.11002	7.661	0.73832945076873802	0.10472	0.17490	0.19860	N	AEFDBCIJ	.	.	.	-0.514185192026367	0.21620	1.148755	-0.623761908656701	0.18883	1.010739	0.981168104466304	0.30226	0.295142	0.05270	0	0.271743	0.05004	0	0.292756	0.05521	0	0.322829	0.05601	0	0.203978	0.30641	5.62	3.09	0.34677	0.059000	0.14199	-0.114000	0.11796	-0.169000	0.11342	0.015000	0.19116	0.028000	0.21151	0.006000	0.07323	0.1748:0.0882:0.0:0.7369	4.962	0.13421	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	885.83	34	chr5	151030643	.	T	C	885.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.526;DP=696;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=2.38;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	17	0	2	0
chr5	151288934	151288934	C	T	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon5:c.G527A:p.R176K	.	1075	439	2	6	0	14	0.0156951	0.9999	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0091853	0	.	.	.	.	0	.	.	0.0001153	3	26028	rs138293383	0.0044	0.0009	0.0031	0.0052	0.0056	0.0015	0.0009	0.0010	0.0004	0	0	0	0	0	0.0056	0.0025	0.0192	0	0.0046	0.0047	0.0041	0.0052	0.0268	0.0044	0.0043	0.0231	0.0217	0.0010	0.0175	0.0026	0.0179	0	0.0053	0.0207	0.0050	0.0062	0.0268	0.545	0.06691	T	0.238	0.24549	T	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.61	0.13095	T	0.11	0.05706	N	0.187	0.20395	-0.9552	0.40060	T	0.013	0.05129	T	6	0.0050709248	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0401082797425	0.02173	0.2737607287719573	0.27289	0.0351969744891	0.03713	.	.	.	.	.	.	-0.717521	0.00029	T	-0.802768	0.01834	T	0.0224380385084349	0.00959	T	0.167383	0.01560	T	.	.	.	.	.	.	.	.	-5.272	0.39665	T	.	.	0.192	0.41171	B	.	.	1.981830	0.25175	16.67	0.81203421815851884	0.13570	0.00314	0.01657	N	AEFGI	0.066884	0.13120	N	-0.566139754880559	0.19981	1.049934	-0.863350825191903	0.12966	0.670075	1.89784645244886E-4	0.05844	0.497415	0.19182	0	0.547309	0.14657	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	0.225	0.225	0.14598	0.305000	0.19006	-0.124000	0.11690	0.454000	0.21428	0.093000	0.22645	0.001000	0.17328	0.009000	0.08673	.	.	.	644	0.63734	.	.	.	.	.	rs138293383	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008299	0.007042	0.000000	0.000000	0.000000	0.000000	0.007576	0.034483	0.02632	53.53	9	chr5	151288934	.	C	T	53.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0394;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,147	18	0	1	0
chr5	151335472	151335472	A	G	exonic	SLC36A2	.	nonsynonymous SNV	SLC36A2:NM_181776:exon6:c.T601C:p.S201P	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.01068083903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.194	0.34596	T	0.197	0.33860	B	0.223	0.41696	B	0.000000	0.84330	D	0.000000	0.999838	0.49637	D	2.715	0.79425	M	4.29	0.02462	T	-2.63	0.58085	D	0.918	0.93487	-0.9853	0.33760	T	0.016	0.06521	T	10	0.7897085	0.78553	D	0.010681	0.27493	T	0.236	0.53931	0.594	0.72371	0.307016933798	0.30308	0.722023448050549	0.72146	0.654683913023	0.58537	0.423007100821	0.28250	T	0.008098	0.13236	T	0.186961	0.72684	D	0.0307801	0.72328	D	0.987436652183533	0.77930	D	0.861714	0.55578	D	0.7940248	0.83526	0.92359656	0.96650	0.7940248	0.83528	0.92359656	0.96651	-6.702	0.51825	T	0.3718445845299834	0.46726	0.151	0.42346	B	.;.	.;.	3.178897	0.43146	21.7	0.9972326098703046	0.82195	0.95479	0.64884	D	AEFGBI	0.870441	0.79141	D	0.13977332762854	0.48327	3.046457	0.216943243397948	0.50785	3.26716	0.251707482428216	0.18687	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	4.52	0.54797	5.757000	0.68422	8.068000	0.76428	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	1.0:0.0:0.0:0.0	14.294	0.65855	804	0.43891	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	33	chr5	151335472	.	A	G	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.545;DP=787;ExcessHet=0;FS=1.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.951;SOR=0.55	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07895	3840.79	101	chr5	151507207	.	G	C	3840.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.408;DP=1568;ExcessHet=0.3672;FS=0.446;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.67;SOR=0.639	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	16	0	3	0
chr5	151568727	151568727	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon2:c.G205A:p.V69M	.	.	.	.	.	.	.	.	.	.	.	709765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.251	.	0.0081	0.00758786	0.0022	0.0239	0.0010	0	0	1.498e-05	0.0022	0.0001	0.0020504	317	154602	rs116402695	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0007	0	0	0	0.0007	7.194e-06	0.0013	6.956e-05	0.0068	0.0068	0.0070	0.0066	0.0243	0.0065	0.0063	0.0230	0.0225	0.0243	0	0.0014	0	0	0	0	8.82e-05	0.0009	0	0.003	0.68238	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.000859	0.41440	D	0.108992	0.982982	0.39958	D	3.17	0.88688	M	-0.06	0.63568	T	-2.01	0.46337	N	0.325	0.36569	-0.6177	0.64084	T	0.102	0.37669	T	10	0.007940859	0.00180	T	.	.	.	0.251	0.56024	.	.	0.727057075958	0.72463	0.5939544387528147	0.59325	0.508231719013	0.48984	0.485226750374	0.36778	T	0.280389	0.65309	T	-0.446488	0.01184	T	-0.395202	0.33943	T	0.063397641629022	0.07693	T	0.875612	0.58729	D	0.09874846	0.23296	0.12646623	0.30457	0.09874846	0.23295	0.12646623	0.30457	-6.209	0.47996	T	.	.	0.221	0.45161	B	.	.	4.251970	0.64550	24.7	0.9988107401265085	0.95733	0.64409	0.32398	D	AEFDBCI	0.158054	0.28366	N	0.609546544433123	0.73779	6.021981	0.595909408412026	0.74644	6.172601	0.999994570522865	0.74766	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	2.668000	0.46481	4.872000	0.45577	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.763000	0.36255	0.0:0.7878:0.0:0.2122	6.970	0.23824	891	0.26808	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2612.33	44	chr5	151568727	.	C	T	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.974;DP=942;ExcessHet=0;FS=3.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.381;SOR=0.905	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr5	152392384	152392384	T	G	exonic	NMUR2	.	nonsynonymous SNV	NMUR2:NM_020167:exon4:c.A1055C:p.Q352P	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0195761007887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.105	0.38016	T	0.261	0.31520	B	0.135	0.33210	B	0.917679	0.08509	N	0.951375	1	0.08975	N	1.585	0.39878	L	1.23	0.36872	T	-0.71	0.20145	N	0.241	0.27197	-0.9899	0.32626	T	0.078	0.31012	T	10	0.10759333	0.19992	T	0.019576	0.41979	T	0.074	0.21613	0.292	0.25400	0.26547132957	0.26150	0.39707349818675414	0.39622	0.36578637288	0.38167	0.221009135246	0.01369	T	0.039484	0.25206	T	-0.150082	0.28300	T	-0.453359	0.27327	T	0.107382947119919	0.13150	T	0.470053	0.13899	T	0.123044915	0.28901	0.12051837	0.29084	0.123044915	0.28901	0.12051837	0.29083	-3.312	0.13893	T	.	.	0.062	0.01367	B	.	.	1.145750	0.15336	11.77	0.88156411314030114	0.17759	0.22549	0.21783	N	AEFBI	0.226502	0.35044	N	-0.785818331351954	0.13679	0.6756008	-0.869666087903934	0.12815	0.6614243	1.74573974114398E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	-0.71	0.10668	1.284000	0.32855	-0.009000	0.13087	0.609000	0.47794	0.468000	0.26706	0.000000	0.08366	0.298000	0.24452	0.0:0.3381:0.0:0.6619	8.546	0.32582	907	0.22727	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4283.81	37	chr5	152392384	.	T	G	4283.81	.	AC=2;AF=0.053;AN=38;DP=1044;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.6;SOR=0.91	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	1	0	0
chr5	153492277	153492277	T	C	exonic	GRIA1	.	nonsynonymous SNV	GRIA1:NM_001258021:exon1:c.T79C:p.F27L,GRIA1:NM_001258022:exon1:c.T79C:p.F27L,GRIA1:NM_001364166:exon2:c.T76C:p.F26L	.	7	1506	9	0	0	9	0.00297915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104068898115	.	0.000199681	0.0003	0	0	0	.	0	0	0.0004	0.0001164	18	154602	rs564579711	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	9.495e-05	0.0001	0	0	0	0.0004	0.0009	0.0004	0.0005	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0003	0	0	0	0.0034	0.0004	0	0.0002	0.582	0.06184	T	0.651	0.06836	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.88	0.10291	T	0.26	0.04380	N	0.156	0.16168	-1.0149	0.25368	T	0.012	0.04795	T	8	0.038315028	0.02242	T	0.010407	0.26915	T	0.069	0.20116	0.479	0.55823	0.202312658747	0.19855	0.24581018342109018	0.24495	0.447665245201	0.44623	0.613020300865	0.54742	T	.	.	.	-0.532154	0.00373	T	-0.655007	0.08607	T	0.0789424888082525	0.09851	T	0.428957	0.11607	T	.	.	.	.	.	.	.	.	-2.245	0.04265	T	.	.	0.397	0.62878	A	.;.	.;.	2.072113	0.26352	17.09	0.98059661814881915	0.37936	0.87877	0.47570	D	AEFBI	0.182773	0.31010	N	-0.36370835200737	0.26771	1.463648	-0.184973916691524	0.32088	1.822142	0.999985271850965	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.475579	0.07313	0	0.530356	0.10902	0	.	.	5.46	4.29	0.50359	2.033000	0.40757	2.170000	0.31047	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0922:0.0:0.9078	8.033	0.29636	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1567.33	33	chr5	153492277	.	T	C	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.057;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1415	18	0	1	0
chr5	154386374	154386374	G	A	exonic	GALNT10	.	nonsynonymous SNV	GALNT10:NM_198321:exon7:c.G1000A:p.G334R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.706363876528	7.7e-05	0.000199681	0.0001	0.0005	0.0007	0.0001	0	0	0	0	9.7e-05	15	154602	rs374511506	1.368e-05	1.368e-05	1.77e-05	9.626e-06	0.0002	8.94e-06	7.26e-06	0.0001	7.817e-05	8.961e-05	0.0002	0	0	0	0	5.396e-06	3.312e-05	0	5.911e-05	5.906e-05	5.141e-05	6.716e-05	0.0002	3.076e-05	2.209e-05	0.0001	8.433e-05	0.0002	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.017	0.72224	D	1.0	0.90584	D	0.997	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-0.36	0.99727	T	-7.05	0.94145	D	0.707	0.90025	1.027	0.97666	D	0.990	0.99712	D	10	0.8300146	0.82167	D	0.706364	0.97605	D	0.768	0.92170	0.652	0.78963	0.965351690687	0.96498	0.8868677845459964	0.88655	1.36254029236	0.84369	0.887280344963	0.94918	D	0.650564	0.89391	D	0.314215	0.84055	D	0.529727	0.95230	D	0.885003387928009	0.53529	D	0.915408	0.89778	D	0.9462755	0.95887	0.8507629	0.91555	0.9462755	0.95887	0.8507629	0.91556	-10.444	0.94911	D	.	.	0.924	0.86294	P	.;.;.	.;.;.	7.107532	0.96150	35	0.99936914285014777	0.99661	0.96995	0.72085	D	AEFDGBI	0.700986	0.65783	D	0.853315841873933	0.89295	9.913917	0.803102095461449	0.90009	10.21619	0.999999999985823	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.460000	0.73433	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.501	0.95085	642	0.63909	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	142.33	33	chr5	154386374	.	G	A	142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=701;ExcessHet=0;FS=71.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=-1.059;SOR=6.183	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr5	154802090	154802090	-	GAGCAA	exonic	LARP1	.	nonframeshift insertion	LARP1:NM_001367715:exon10:c.984_985insGAGCAA:p.E331_E332insQE,LARP1:NM_001367713:exon11:c.1185_1186insGAGCAA:p.E398_E399insQE,LARP1:NM_001367716:exon11:c.1086_1087insGAGCAA:p.E365_E366insQE,LARP1:NM_001367717:exon11:c.1491_1492insGAGCAA:p.E500_E501insQE,LARP1:NM_001367718:exon11:c.1701_1702insGAGCAA:p.E570_E571insQE,LARP1:NM_001367719:exon11:c.1185_1186insGAGCAA:p.E398_E399insQE,LARP1:NM_015315:exon11:c.1569_1570insGAGCAA:p.E526_E527insQE,LARP1:NM_033551:exon11:c.1800_1801insGAGCAA:p.E603_E604insQE,LARP1:NM_001367714:exon12:c.1185_1186insGAGCAA:p.E398_E399insQE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs756349552	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2191.29	35	chr5	154802090	.	T	TGAGCAA	2191.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.118;DP=791;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.16;SOR=0.57	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1540	18	0	1	0
chr5	154814020	154814020	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367715:exon18:c.C2399T:p.P800L,LARP1:NM_001367713:exon19:c.C2600T:p.P867L,LARP1:NM_001367716:exon19:c.C2501T:p.P834L,LARP1:NM_001367717:exon19:c.C2906T:p.P969L,LARP1:NM_001367718:exon19:c.C3116T:p.P1039L,LARP1:NM_001367719:exon19:c.C2600T:p.P867L,LARP1:NM_015315:exon19:c.C2984T:p.P995L,LARP1:NM_033551:exon19:c.C3215T:p.P1072L,LARP1:NM_001367714:exon20:c.C2600T:p.P867L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00759287747425	0.0006	0.000998403	0.0006	0.0002	8.64e-05	0	0.0002	0.0006	0.0011	0.0013	0.0004916	76	154602	rs148515883	0.0005	0.0005	0.0004	0.0006	0.0049	0.0005	0.0005	0.0034	0.0030	8.961e-05	0.0002	0.0003	2.519e-05	0.0001	0.0049	0.0004	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0005	0	0	9.416e-05	0	0.0009	0.0014	0.0017	0.407	0.10245	T	0.388	0.15602	T	0.0	0.02946	B	0.001	0.04355	B	0.095250	0.20133	N	0.545245	0.817224	0.34724	D	.	.	.	1.97	0.22067	T	0.36	0.03700	N	0.167	0.17691	-1.0357	0.18637	T	0.030	0.12935	T	10	0.0063082576	0.00142	T	0.007593	0.20139	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.24907486879027219	0.24821	0.635579275713	0.57371	0.31773597002	0.13077	T	.	.	.	-0.554788	0.00273	T	-0.59977	0.12830	T	0.0208148962799592	0.00781	T	0.734627	0.35069	T	.	.	.	.	.	.	.	.	-4.511	0.31032	T	.	.	0.065	0.01986	B	.	.	3.030904	0.40599	21.2	0.9770021841498393	0.35430	0.62171	0.31701	D	AEFDBCI	0.473978	0.51844	N	-0.422690604656521	0.24676	1.334067	-0.240635588156417	0.30096	1.691589	0.999999996617982	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	4.223000	0.58384	3.962000	0.40756	0.599000	0.40250	0.180000	0.24064	0.399000	0.24702	0.400000	0.26782	0.0:1.0:0.0:0.0	16.881	0.85930	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2343.33	36	chr5	154814020	.	C	T	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=833;ExcessHet=0;FS=3.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.804;SOR=0.5	GT:AD:DP:GQ:PL	0/1:100,99:199:99:2357,0,2633	18	0	1	0
chr5	154822476	154822476	T	A	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon7:c.A674T:p.H225L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.282253165996	8.2e-05	0.00159744	0.0009	0.0002	8.639e-05	0	0.0003	0.0003	0.0011	0.0050	0.0007762	120	154602	rs199868107	0.0006	0.0006	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0049	0	0.0004	0	0	1.872e-05	0.0052	0.0002	0.0005	0.0054	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.215e-05	0	0.0018	0	0	9.413e-05	0	0.0002	0.0005	0.0052	0.001	0.78490	D	0.003	0.76473	D	0.616	0.39820	P	0.574	0.49998	P	0.000000	0.84330	D	0.090003	1	0.81001	D	2.595	0.75868	M	-1.66	0.82715	D	-9.39	0.98373	D	0.906	0.91162	0.032	0.82888	D	0.600	0.85766	D	10	0.1042999	0.19222	T	0.282253	0.90273	D	0.696	0.89007	.	.	0.516884031612	0.51331	0.8477747922481085	0.84738	0.733661856495	0.62852	0.611201703548	0.54486	T	0.408201	0.76360	T	0.0614222	0.59791	T	0.315856	0.88917	D	0.345327526330948	0.26835	T	0.882812	0.65732	D	0.82542175	0.85587	0.7145852	0.83156	0.82542175	0.85589	0.7145852	0.83157	-10.014	0.73996	D	.	.	0.361	0.57829	A	.;.	.;.	4.283971	0.65277	24.8	0.96930404852154828	0.31656	0.94243	0.60550	D	AEFDBCI	0.958999	0.97910	D	0.215385357102416	0.51946	3.371953	0.193629074390948	0.49497	3.152173	0.999999999998538	0.74766	0.660377	0.49826	0	0.446627	0.06534	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.27	5.27	0.73797	7.650000	0.82668	3.376000	0.37968	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.0:0.0:1.0	14.387	0.66519	894	0.26265	Fatty acid hydroxylase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	908.33	34	chr5	154822476	.	T	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.059;SOR=0.641	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:111,34:155:99:160,0,2368	4	0	14	1
chr5	154892470	154892470	G	A	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon25:c.C3674T:p.A1225V,GEMIN5:NM_015465:exon25:c.C3677T:p.A1226V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0351704136771	7.7e-05	.	2.482e-05	0	0	0	0	4.516e-05	0	0	1.94e-05	3	154602	rs368952814	8.893e-06	9.577e-06	5.445e-06	1.238e-05	0.0007	4.96e-06	3.82e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.698e-06	4.967e-05	2.319e-05	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.038	0.42783	D	0.108	0.37589	T	0.844	0.46645	P	0.186	0.36104	B	0.004728	0.33446	N	0.326476	0.918708	0.27344	N	2.175	0.60977	M	-0.63	0.72011	T	-1.35	0.33598	N	0.167	0.17691	-0.6139	0.64242	T	0.268	0.63929	T	10	0.24061185	0.41224	T	0.03517	0.56165	D	0.148	0.39182	.	.	0.821323271038	0.81963	0.3384325086971657	0.33756	0.232148426963	0.25761	0.363344728947	0.19871	T	0.023046	0.17662	T	-0.0735563	0.40757	T	-0.235778	0.51211	T	0.348087549209595	0.26944	T	0.90061	0.65471	D	0.1977203	0.41647	0.14339761	0.34081	0.1977203	0.41647	0.14339761	0.34080	-3.572	0.17453	T	.	.	0.184	0.39815	B	.	.	3.452869	0.48089	22.6	0.997511186670336	0.84305	0.91774	0.54234	D	AEFDGBI	0.234779	0.35748	N	0.0963649867229088	0.46291	2.871896	0.104355428465734	0.44771	2.752449	0.999996260210501	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.9	5.03	0.67015	2.568000	0.45628	8.106000	0.76575	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.569000	0.30626	0.0:0.2818:0.7182:0.0	16.307	0.82681	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	795.33	42	chr5	154892470	.	G	A	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.228;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=1.5;SOR=0.65	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1318	18	0	1	0
chr5	154896280	154896280	A	G	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon24:c.T3406C:p.S1136P,GEMIN5:NM_015465:exon24:c.T3409C:p.S1137P	.	429	1053	39	1	0	41	0.0190964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0030	0.00559105	0.0063	0.0008	0.0018	0	0.0003	0.0031	0.0045	0.0325	0.0055239	854	154602	rs141010715	0.0041	0.0041	0.0032	0.0050	0.0325	0.0040	0.0040	0.0314	0.0310	0.0004	0.0015	0.0133	7.566e-05	0.0002	0.0067	0.0022	0.0044	0.0325	0.0026	0.0026	0.0021	0.0031	0.0292	0.0024	0.0023	0.0253	0.0238	0.0006	0	0.0008	0.0130	0	0.0003	0	0.0024	0.0024	0.0292	0.114	0.28646	T	0.116	0.36497	T	0.0	0.02946	B	0.0	0.01387	B	0.017482	0.01466	N	2.147060	1	0.08975	N	-0.205	0.04094	N	-0.47	0.70133	T	-0.25	0.11008	N	0.071	0.04426	-0.9543	0.40221	T	0.137	0.45260	T	10	0.0019928217	0.00028	T	.	.	.	0.121	0.33580	.	.	0.351180957027	0.34734	0.2168776531447135	0.21603	0.0911396486993	0.10291	0.29211217165	0.09230	T	0.005329	0.04780	T	-0.600865	0.00144	T	-0.61288	0.11751	T	0.00382648931139345	0.00040	T	0.515548	0.16619	T	0.04637304	0.07750	0.102424674	0.24549	0.04637304	0.07750	0.102424674	0.24548	-3.758	0.20178	T	.	.	0.061	0.01042	B	.	.	1.016826	0.13964	10.52	0.96708723199161006	0.30803	0.03278	0.08320	N	AEFBI	0.027854	0.02351	N	-1.25832730690589	0.04191	0.1886822	-1.26973720777014	0.04845	0.2295426	0.978409102380192	0.29919	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	-4.72	0.03032	-0.467000	0.06741	0.717000	0.20982	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.963000	0.52385	0.2397:0.0981:0.5653:0.0969	7.548	0.26946	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.030303	0.02632	1318.33	33	chr5	154896280	.	A	G	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=742;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.62;SOR=1.068	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr5	154905423	154905423	T	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon17:c.A2446G:p.K816E,GEMIN5:NM_015465:exon17:c.A2449G:p.K817E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0459097469011	.	.	8.246e-06	9.688e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762383080	9.599e-06	1.163e-05	5.458e-06	1.378e-05	0.0005	5.57e-06	4.36e-06	0.0001	7.557e-05	0	2.247e-05	0	2.526e-05	0	0.0005	6.306e-06	0	2.336e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.17	0.22833	T	0.064	0.44905	T	0.988	0.62325	D	0.76	0.56425	P	0.000031	0.55875	D	0.121494	0.768069	0.29467	N	2.42	0.70002	M	-0.81	0.73949	T	-0.14	0.09135	N	0.659	0.66873	-0.3251	0.74278	T	0.418	0.76449	T	10	0.6870242	0.71624	D	0.04591	0.62205	D	0.361	0.68141	0.415	0.45380	0.764286150549	0.76213	0.1706679554886014	0.16986	0.163586975449	0.18448	0.456630110741	0.32849	T	0.003213	0.02616	T	-0.0518712	0.44162	T	-0.130139	0.60960	T	0.302860349416733	0.25121	T	0.736726	0.35329	T	0.08711296	0.20272	0.1204303	0.29063	0.08711296	0.20272	0.1204303	0.29062	-3.322	0.14022	T	.	.	0.09	0.12607	B	.	.	3.882855	0.56447	23.7	0.99844968157005887	0.92489	0.91031	0.52725	D	AEFBI	0.138822	0.26023	N	0.48371340456182	0.66139	4.911616	0.49632639729583	0.67746	5.125458	0.996484076098522	0.34777	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	3.027000	0.49381	4.824000	0.45142	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1715:0.0:0.0:0.8285	9.256	0.36747	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	841.33	33	chr5	154905423	.	T	C	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.768;DP=731;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-1.516;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	18	0	1	0
chr5	156851083	156851083	T	C	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.T521C:p.M174T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.288e-07	8.984e-06	1.461e-06	0	9.703e-07	0	0	.	.	0	0	0	0	0	0	9.703e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243669	0.41585	T	.	.	.	.	.	.	.	.	.	0.2662507915246334	0.26538	.	.	.	.	.	0.147658	0.48585	T	.	.	.	.	.	.	.	.	.	0.646635	0.25786	T	0.10551003	0.24947	0.40157664	0.64663	0.10551003	0.24946	0.40157664	0.64663	-3.115	0.11469	T	.	.	0.225	0.45617	B	.	.	0.804578	0.11755	8.329	0.87200384812672005	0.17058	0.72941	0.35687	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.0302876265336412	0.13934	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.607242	0.40932	1.41	1.41	0.21461	4.434000	0.59679	7.379000	0.58442	0.168000	0.17747	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0:0.0:1.0	6.974	0.23844	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	32.14	41	chr5	156851083	.	T	C	32.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.775;DP=1065;ExcessHet=0;FS=58.52;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=57.23;MQRankSum=-2.76;QD=0.36;ReadPosRankSum=-0.866;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	16	0	1	2
chr5	156851084	156851084	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G522A:p.M174I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23448128	0.40489	T	.	.	.	.	.	.	.	.	.	0.1570721436678043	0.15628	.	.	.	.	.	0.084872	0.37375	T	.	.	.	.	.	.	.	.	.	0.761924	0.38711	T	0.17414516	0.38202	0.39416957	0.64118	0.17414516	0.38201	0.39416957	0.64117	-3.596	0.17799	T	.	.	0.292	0.52360	B	.	.	0.679330	0.10477	7.195	0.79777657296161864	0.12896	0.66633	0.33146	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.00106444667798837	0.08183	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.0990276	0.22063	1.41	-0.391	0.11826	5.445000	0.66341	9.172000	0.79038	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.3286:0.0:0.6714:0.0	5.366	0.15415	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.33	41	chr5	156851084	.	G	A	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.841;DP=948;ExcessHet=0;FS=57.842;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=57.17;MQRankSum=-2.731;QD=0.39;ReadPosRankSum=-0.947;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	18	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,524:524:99:.:.:23443,1585,0:.	5	7	6	1
chr5	157162649	157162649	C	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.G1616A:p.R539K	.	434	1070	18	0	0	18	0.00834106	.	.	.	2825483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.00363130499652	0.0025	0.000599042	0.0032	0.0006	0.0022	0	0	0.0046	0.0055	0.0022	0.0031694	490	154602	rs147753755	0.0032	0.0032	0.0030	0.0033	0.0229	0.0031	0.0031	0.0197	0.0185	0.0008	0.0022	0.0080	0	0.0002	0.0229	0.0033	0.0041	0.0021	0.0028	0.0028	0.0031	0.0026	0.0043	0.0026	0.0025	0.0039	0.0038	0.0006	0	0.0035	0.0075	0	0.0002	0.0238	0.0043	0.0066	0.0017	0.04	0.42199	D	0.049	0.48336	D	0.429	0.35556	B	0.048	0.24975	B	0.234351	0.15850	N	0.524512	1	0.08975	N	1.465	0.36909	L	2.18	0.18875	T	-2.11	0.48020	N	0.11	0.09631	-1.0546	0.13145	T	0.048	0.20315	T	10	0.002883494	0.00046	T	0.003631	0.08340	T	0.072	0.21020	.	.	0.282179105231	0.27821	0.3456008141215238	0.34474	0.10980255445	0.12382	0.302499592304	0.10774	T	0.018217	0.14727	T	-0.599104	0.00148	T	-0.631013	0.10338	T	0.0026392189519949	0.00028	T	0.446455	0.12522	T	0.11736511	0.27670	0.10532055	0.25316	0.11736511	0.27670	0.10532055	0.25315	-3.12	0.11527	T	.	.	0.098	0.16363	B	.	.	-0.033340	0.04059	0.942	0.87186583519478222	0.17049	0.03504	0.08679	N	AEFBI	0.035255	0.04508	N	-0.629269778490458	0.18069	0.935134	-0.788482384031189	0.14778	0.7739151	0.00719944944385497	0.11407	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	-0.241	0.12399	-0.203000	0.09440	-0.425000	0.09259	0.599000	0.40250	0.252000	0.24869	0.028000	0.21151	0.058000	0.15825	0.0:0.5486:0.0:0.4514	6.76	0.22723	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030211	0.030303	0.038043	0.055556	0.000000	0.025862	0.015244	0.015152	0.02632	2586.33	141	chr5	157162649	.	C	T	2586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.25;DP=1041;ExcessHet=0;FS=2.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.704;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1240	18	0	1	0
chr5	157163189	157163189	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1076T:p.S359L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00129429698316	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	1.94e-05	3	154602	rs749588822	7.525e-06	7.524e-06	6.807e-06	8.251e-06	5.974e-05	4.04e-06	2.95e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	6.295e-06	0	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	2.404e-05	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0.0034	1.47e-05	0	0	0.224	0.18691	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.000153	0.00484	N	7.314390	1	0.08975	N	0.14	0.08730	N	3.78	0.03836	T	-0.29	0.11728	N	0.079	0.05414	-0.9529	0.40468	T	0.008	0.02884	T	10	0.053507894	0.05552	T	0.001294	0.01784	T	0.010	0.01040	0.126	0.03173	0.0297737177859	0.01360	0.11376277735104402	0.11304	0.085779148831	0.09691	0.268180251122	0.05905	T	0.005826	0.05277	T	-0.449876	0.01131	T	-0.801127	0.01874	T	0.0447818724195002	0.04562	T	0.275672	0.04719	T	0.030110333	0.02617	0.037637364	0.03459	0.030110333	0.02617	0.037637364	0.03459	-6.208	0.47988	T	.	.	0.087	0.11269	B	.	.	-0.511686	0.01830	0.145	0.72149835576126087	0.09873	0.00451	0.02188	N	AEFBI	0.023915	0.01402	N	-1.5622090401924	0.01465	0.06391162	-1.65001843863169	0.01376	0.06214498	0.0448259606382474	0.14628	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.22	-3.49	0.04424	-2.071000	0.01466	-0.894000	0.07016	-0.900000	0.02330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3149:0.217:0.4681:0.0	4.350	0.10586	554	0.71839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1996.33	141	chr5	157163189	.	G	A	1996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=1005;ExcessHet=0;FS=10.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.23;SOR=1.279	GT:AD:DP:GQ:PL	0/1:73,75:148:99:2010,0,1940	18	0	1	0
chr5	157163510	157163510	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C755T:p.T252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0016791058227	7.7e-05	.	5.767e-05	0	8.639e-05	0	0	8.993e-05	0	0	7.12e-05	11	154602	rs143827589	5.199e-05	5.199e-05	6.125e-05	4.263e-05	0.0001	4.258e-05	3.888e-05	4.699e-05	4.281e-05	2.987e-05	0.0001	0	2.519e-05	0	0	5.845e-05	4.967e-05	1.159e-05	1.314e-05	2.627e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.248	0.17239	T	0.147	0.32783	T	0.048	0.22112	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.76	0.03892	T	-0.81	0.22294	N	0.044	0.01658	-0.9457	0.41698	T	0.008	0.02760	T	9	0.040735245	0.02668	T	0.001679	0.02779	T	0.040	0.10527	.	.	0.0297737177859	0.01360	0.11617179949384838	0.11545	0.149189735459	0.16824	0.291863381863	0.09194	T	0.004297	0.03709	T	-0.593068	0.00161	T	-0.863976	0.00801	T	0.0186612033992839	0.00580	T	0.443356	0.12326	T	0.01857649	0.00380	0.030198496	0.01446	0.01857649	0.00379	0.030198496	0.01446	-5.304	0.39983	T	.	.	0.096	0.15341	B	.	.	-1.154317	0.00579	0.014	0.71858931119084879	0.09773	0.00580	0.02616	N	AEFBI	0.023156	0.01253	N	-1.96531553060349	0.00251	0.01075221	-2.02859976686856	0.00266	0.01174887	0.18245918886492	0.17890	0.500041	0.20204	0	0.547309	0.14657	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	3.66	-4.24	0.03519	-3.453000	0.00518	-2.540000	0.03631	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4434:0.1204:0.4362:0.0	7.100	0.24510	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	45	chr5	157163510	.	G	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=747;ExcessHet=0;FS=2.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.914;SOR=0.387	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1340	18	0	1	0
chr5	157165757	157165757	G	C	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C412G:p.Q138E	.	429	1087	6	0	0	6	0.00275229	.	.	.	3251250	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0114032982829	7.7e-05	.	5.766e-05	0	8.637e-05	0	0	1.498e-05	0	0.0003	4.53e-05	7	154602	rs143562132	2.463e-05	2.463e-05	2.042e-05	2.888e-05	0.0003	1.803e-05	1.6e-05	0.0001	8.645e-05	2.987e-05	0	0	0	0	0.0003	1.349e-05	4.967e-05	0.0002	5.26e-05	5.251e-05	6.432e-05	4.034e-05	0.0001	2.558e-05	1.831e-05	2.26e-05	1.125e-05	0	0	0.0001	0	0	0	0.0034	5.885e-05	0.0005	0	0.004	0.65419	D	0.012	0.63918	D	0.974	0.57829	D	0.906	0.64351	P	0.037605	0.24381	N	0.349384	0.746504	0.33880	D	2.42	0.70002	M	2.23	0.18083	T	-2.59	0.55821	D	0.549	0.57518	-0.7760	0.56526	T	0.115	0.40695	T	10	0.4373954	0.57881	T	0.011403	0.28987	T	0.185	0.45933	.	.	0.326074293725	0.32213	0.2390305654444589	0.23817	0.348751630782	0.36736	0.540343403816	0.44493	T	0.113298	0.43023	T	-0.300841	0.08581	T	-0.373721	0.36456	T	0.37642577290535	0.28045	T	0.676632	0.28519	T	0.34545323	0.56711	0.37868297	0.62941	0.34545323	0.56711	0.37868297	0.62940	-10.343	0.75939	D	.	.	0.246	0.48029	B	.	.	4.482561	0.69953	25.4	0.99414911340235068	0.63453	0.90203	0.51196	D	AEFBI	0.599657	0.59259	D	0.623203398716426	0.74645	6.16794	0.536536017569459	0.70467	5.509448	0.958472219093677	0.28365	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	5.126000	0.64561	10.785000	0.83751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0:0.0:1.0:0.0	13.562	0.61258	509	0.75304	Domain of unknown function DUF3699	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1498.33	33	chr5	157165757	.	G	C	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=772;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=2.31;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	18	0	1	0
chr5	157165928	157165928	G	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C241A:p.L81I	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00904159084209	.	.	0.0004	0	8.637e-05	0	0	0.0001	0	0.0028	0.0003493	54	154602	rs753017086	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.236e-05	0	0	0	0.0014	6.025e-05	0.0001	0.0027	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0015	5.524e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.059	0.37536	T	0.013	0.63109	D	1.0	0.90584	D	0.996	0.84481	D	0.008740	0.30696	N	0.211972	0.533176	0.31473	N	2.95	0.84923	M	3.17	0.07599	T	-1.86	0.43524	N	0.542	0.56919	-0.8238	0.53695	T	0.091	0.34928	T	10	0.041705012	0.02851	T	0.009042	0.23797	T	0.201	0.48592	0.491	0.57732	0.221019684889	0.21715	0.16683595858366893	0.16603	0.521529759999	0.49918	0.575483798981	0.49450	T	0.237165	0.60479	T	-0.4485	0.01153	T	-0.421006	0.30959	T	0.256254536269858	0.23150	T	0.893711	0.63166	D	0.14817753	0.33839	0.16372362	0.37964	0.14817753	0.33839	0.16372362	0.37964	-7.7	0.59008	D	.	.	0.224	0.45495	B	.	.	3.838695	0.55534	23.6	0.99580780977141337	0.72980	0.86167	0.45397	D	AEFBI	0.371153	0.45727	N	0.692937394801496	0.79168	7.021389	0.587555663670919	0.74047	6.071048	0.970119861462481	0.29182	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	3.576000	0.53622	7.688000	0.65646	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:1.0:0.0	13.803	0.62702	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1543.33	33	chr5	157165928	.	G	T	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=733;ExcessHet=0;FS=13.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.562;SOR=0.323	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	18	0	1	0
chr5	157319874	157319874	C	T	exonic	CYFIP2	.	nonsynonymous SNV	CYFIP2:NM_001291721:exon13:c.C1391T:p.T464M,CYFIP2:NM_001037333:exon14:c.C1469T:p.T490M,CYFIP2:NM_001291722:exon14:c.C1469T:p.T490M,CYFIP2:NM_014376:exon14:c.C1469T:p.T490M	.	.	.	.	.	.	.	.	.	.	YES	1316223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	0.291	0.0156012551625	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478391225	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	0	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0.0002	0	0	0	0	0	0.025	0.48642	D	0.08	0.42614	T	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.043296	1	0.81001	D	2.42	0.70002	M	1.9	0.23486	T	-3.1	0.63554	D	0.651	0.66443	-0.8901	0.48925	T	0.171	0.51261	T	10	0.75606763	0.75992	D	0.015601	0.36422	T	0.291	0.61040	0.817	0.93127	0.325710239843	0.32177	0.836620171706622	0.83622	1.28484987636	0.82633	0.85511636734	0.90384	D	0.286147	0.65893	T	0.0427674	0.57406	T	-0.176344	0.56860	T	0.972840487957001	0.69858	D	0.979502	0.92959	D	0.24469887	0.47421	0.18610467	0.41763	0.24469887	0.47421	0.18610467	0.41762	-11.336	0.81469	D	.	.	0.097	0.17742	B	.;.;.;.;.;.	.;.;.;.;.;.	4.402985	0.68047	25.2	0.99905110958785281	0.97576	0.96580	0.69853	D	AEFDBI	0.635337	0.61488	D	0.744061341293008	0.82518	7.782326	0.761866910191762	0.87042	9.087044	0.999999743115576	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.97	5.97	0.96935	6.048000	0.70674	7.634000	0.62871	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:0.8652:0.1348:0.0	15.859	0.78789	765	0.49814	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1936.33	33	chr5	157319874	.	C	T	1936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=753;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-2.021;SOR=0.779	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1950,0,1431	18	0	1	0
chr5	157471775	157471775	G	T	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon4:c.G673T:p.V225F,NIPAL4:NM_001099287:exon5:c.G544T:p.V182F	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	302989	Autosomal_recessive_congenital_ichthyosis_6|not_provided	MONDO:MONDO:0012847,MedGen:C2677065,OMIM:612281,Orphanet:313,Orphanet:79394|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.767	0.237532172443	.	0.000399361	0.0015	0.0002	0	0	0	0.0005	0	0.0075	0.0007503	116	154602	rs540992129	0.0005	0.0005	0.0003	0.0007	0.0056	0.0005	0.0005	0.0048	0.0046	0	0.0001	7.747e-05	2.549e-05	0	0.0056	0.0002	0.0007	0.0052	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.408e-05	0	0.0010	0	0	0	0	0.0002	0	0.0041	0.023	0.48186	D	0.021	0.58089	D	0.992	0.67487	D	0.868	0.67560	P	0.000010	0.62929	D	0.111083	1	0.81001	D	2.97	0.85306	M	-2.75	0.90792	D	-4.62	0.79143	D	0.412	0.45237	0.786	0.94244	D	0.845	0.94829	D	10	0.0117743015	0.00256	T	0.237532	0.88548	D	0.767	0.92129	.	.	0.708478496362	0.70593	0.7986204205216727	0.79815	1.04843531002	0.76047	0.337402641773	0.16049	T	0.829584	0.95917	D	-0.223419	0.17530	T	-0.0932989	0.63912	T	0.130717685814586	0.15449	T	0.838016	0.51077	T	0.57594025	0.71386	0.36450204	0.61817	0.57594025	0.71387	0.36450204	0.61817	-8.868	0.69210	D	.	.	0.347	0.56377	A	.;.	.;.	3.017177	0.40373	21.2	0.99520259226212537	0.69222	0.94494	0.61346	D	AEFDGBHCI	0.557136	0.56689	D	0.506268914411422	0.67460	5.084561	0.412846485959367	0.62362	4.450615	0.999999324993458	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.64	2.79	0.31792	1.713000	0.37570	0.276000	0.16712	-0.633000	0.04490	1.000000	0.71638	0.874000	0.27626	0.879000	0.42020	0.2241:0.0:0.7759:0.0	10.547	0.44253	831	0.39019	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.001362	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1184.33	63	chr5	157471775	.	G	T	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=890;ExcessHet=0;FS=2.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.84;SOR=1.012	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr5	157472712	157472712	G	A	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon5:c.G1096A:p.V366M,NIPAL4:NM_001099287:exon6:c.G967A:p.V323M	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	1	1517	3	1	0	5	0.00164528	.	.	.	2825491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.284	.	.	0.00279553	0.0021	0	8.64e-05	0	0	1.499e-05	0.0011	0.0149	0.0017464	270	154602	rs563737484	0.0009	0.0009	0.0005	0.0013	0.0146	0.0009	0.0009	0.0140	0.0137	5.974e-05	6.708e-05	0	0	0	0.0002	1.619e-05	0.0008	0.0146	0.0005	0.0005	0.0001	0.0009	0.0152	0.0004	0.0004	0.0124	0.0113	0	0	6.533e-05	0	0	0	0	0	0	0.0152	0.106	0.29688	T	0.108	0.37730	T	0.802	0.45105	P	0.146	0.38116	B	0.000109	0.50451	D	0.176633	1	0.81001	D	1.66	0.42513	L	-2.63	0.90083	D	-0.2	0.14390	N	0.113	0.10056	-0.1470	0.78989	T	0.533	0.82694	D	10	0.0085196495	0.00193	T	.	.	.	0.284	0.60219	0.358	0.36060	0.586602809486	0.58333	0.42644471853699395	0.42561	0.49260143027	0.47901	0.410073101521	0.26467	T	0.317578	0.68902	T	-0.351646	0.04624	T	-0.265568	0.48267	T	0.0320280690241991	0.02311	T	0.265773	0.04827	T	0.060895517	0.12548	0.07691106	0.17082	0.044466104	0.07113	0.0839176	0.19266	-4.686	0.33920	T	.	.	0.097	0.15743	B	.;.	.;.	1.431308	0.18497	13.77	0.98471588671829158	0.41861	0.77910	0.38364	D	AEFBCI	0.157773	0.28334	N	-0.0623199381743931	0.39054	2.29698	-0.0505050291044003	0.37467	2.19422	0.999971412620888	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.93	3.21	0.35933	3.586000	0.53696	1.476000	0.26787	-0.123000	0.13640	1.000000	0.71638	0.899000	0.27943	0.051000	0.15275	0.207:0.1301:0.6629:0.0	6.556	0.21654	828	0.39726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2861.33	35	chr5	157472712	.	G	A	2861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=1243;ExcessHet=0;FS=2.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.682;SOR=0.861	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr5	157651180	157651180	G	A	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.C899T:p.S300F,SOX30:NM_178424:exon1:c.C899T:p.S300F	.	428	1092	2	0	0	2	0.000914913	.	.	.	2257733	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.699	0.561981112153	7.7e-05	.	9.444e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs375931805	8.513e-05	8.756e-05	6.827e-05	0.0001	0.0007	7.235e-05	6.821e-05	0.0002	0.0001	0	2.292e-05	0	0	1.876e-05	0.0007	9.734e-05	9.986e-05	4.666e-05	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	2.405e-05	0	6.531e-05	0	0	0	0	7.35e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000032	0.55875	D	0.000000	0.995864	0.81001	D	0.895	0.22405	L	-4.91	0.98352	D	-2.66	0.56945	D	0.568	0.64052	1.101	0.99714	D	0.908	0.96949	D	10	0.6929982	0.71970	D	0.561981	0.96005	D	0.699	0.89145	.	.	0.909011573051	0.90810	0.5716656614270543	0.57094	.	.	0.744324684143	0.73608	T	0.023644	0.18014	T	0.15416	0.69658	D	0.23871	0.85085	D	0.500446498394012	0.32645	D	0.867613	0.56877	D	0.5298894	0.68824	0.6329098	0.78578	0.5298894	0.68825	0.6329098	0.78579	-6.071	0.49015	T	0.3406921557368213	0.43843	0.44	0.61705	A	.;.	.;.	4.937222	0.81443	27.6	0.99835300537232086	0.91628	0.98797	0.86978	D	AEFDBI	0.815338	0.73734	D	0.506553494181556	0.67476	5.086763	0.559889642939831	0.72088	5.75509	0.999937597437235	0.46732	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	5.18	5.18	0.71140	6.827000	0.75095	11.818000	0.97148	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	16.902	0.85985	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	34	chr5	157651180	.	G	A	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=767;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.427;SOR=0.841	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1620,0,1760	18	0	1	0
chr5	157651397	157651397	C	T	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.G682A:p.A228T,SOX30:NM_178424:exon1:c.G682A:p.A228T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0131581511953	.	.	0.0001	0	8.658e-05	0	0	0	0.0011	0.0007	8.41e-05	13	154602	rs747852816	6.16e-05	6.156e-05	3.132e-05	9.218e-05	0.0010	5.097e-05	4.718e-05	0.0008	0.0007	0	0	0	0	0	0	1.799e-06	8.284e-05	0.0010	3.285e-05	3.283e-05	1.285e-05	5.379e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.961	0.02093	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.082509	0.02369	N	1.948600	1	0.08975	N	0.55	0.14455	N	-4.43	0.97492	D	-0.06	0.07882	N	0.01	0.00125	-0.1760	0.78281	T	0.626	0.86854	D	10	0.013242811	0.00282	T	0.013158	0.32344	T	0.309	0.63055	0.15	0.05339	0.602739841111	0.59956	0.13828074088055245	0.13752	.	.	0.284581184387	0.08139	T	0.002235	0.01633	T	-0.443616	0.01232	T	-0.470598	0.25453	T	0.0175054972559183	0.00485	T	0.546745	0.18722	T	0.020931542	0.00671	0.039762367	0.04144	0.020931542	0.00671	0.039762367	0.04144	-4.26	0.27612	T	0.0819739600084553	0.04287	0.069	0.03128	B	.;.	.;.	-2.029290	0.00095	0.002	0.73839246192376995	0.10474	0.01649	0.05298	N	AEFDBCI	0.041245	0.06244	N	-2.1659532737455	0.00091	0.003907631	-2.26632787942144	0.00079	0.003478042	0.999999999985227	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.05	-10.1	0.00330	-4.114000	0.00331	-6.566000	0.01364	-1.873000	0.00550	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0702:0.4186:0.2824:0.2288	5.732	0.17316	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1027.33	34	chr5	157651397	.	C	T	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=719;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.456;SOR=0.578	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1222	18	0	1	0
chr5	157651624	157651624	G	A	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_007017:exon1:c.C455T:p.P152L,SOX30:NM_178424:exon1:c.C455T:p.P152L	.	430	1063	28	1	0	30	0.0139147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0023	0.00319489	0.0040	0.0007	0.0031	0.0001	0	0.0037	0.0048	0.0111	0.0037128	574	154602	rs13181859	0.0036	0.0036	0.0032	0.0040	0.0172	0.0035	0.0035	0.0144	0.0134	0.0011	0.0036	0.0064	5.039e-05	0.0001	0.0172	0.0031	0.0039	0.0120	0.0027	0.0027	0.0026	0.0029	0.0095	0.0025	0.0024	0.0073	0.0066	0.0006	0	0.0029	0.0066	0.0002	0.0002	0.0136	0.0038	0.0043	0.0095	0.003	0.68238	D	0.013	0.63109	D	0.386	0.34500	B	0.087	0.29615	B	0.846598	0.07032	N	1.098170	1	0.08975	N	1.7	0.43825	L	-4.48	0.97606	D	-1.11	0.28703	N	0.034	0.00942	0.071	0.83634	D	0.665	0.88385	D	10	0.00372082	0.00069	T	.	.	.	0.141	0.37795	.	.	0.391826234366	0.38797	0.07513399285387971	0.07449	.	.	0.48542112112	0.36805	T	0.005246	0.04687	T	-0.347995	0.04855	T	-0.262259	0.48599	T	0.00635331089597787	0.00071	T	0.69903	0.30897	T	0.031854466	0.03102	0.032174185	0.01913	0.031854466	0.03102	0.032174185	0.01913	-3.647	0.18539	T	0.10526239138024576	0.08327	0.105	0.19438	B	.;.	.;.	1.203029	0.15953	12.22	0.96791913573417354	0.31116	0.08009	0.13988	N	AEFDGBHCI	0.084375	0.17100	N	-0.889796775223051	0.11084	0.5330273	-0.930322483557214	0.11380	0.5794108	0.999986817774769	0.51787	0.648878	0.45929	0	0.491552	0.07993	0	0.596394	0.31383	0	0.603991	0.37454	0	.	.	4.09	2.25	0.27340	1.138000	0.31103	4.850000	0.45366	0.618000	0.50648	0.001000	0.13787	0.999000	0.35428	0.002000	0.04165	0.094:0.1461:0.3488:0.4112	2.685	0.04790	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014617	0.010309	0.023098	0.011696	0.000000	0.008621	0.012195	0.007576	0.02632	559.33	34	chr5	157651624	.	G	A	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=693;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.847;SOR=1.051	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1222	18	0	1	0
chr5	157675184	157675184	G	A	exonic	C5orf52	.	nonsynonymous SNV	C5orf52:NM_001145132:exon2:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0147301919287	.	.	4.632e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779555624	2.082e-05	2.257e-05	1.56e-05	2.618e-05	0.0003	1.461e-05	1.263e-05	0.0002	0.0001	0	0	3.979e-05	0	0	0	6.523e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.972489	0.25598	N	1.545	0.39105	L	1.39	0.33842	T	-3.72	0.70793	D	0.293	0.33140	-1.0366	0.18357	T	0.132	0.44386	T	9	0.1954819	0.35402	T	0.01473	0.35036	T	0.091	0.26358	0.333	0.32005	0.0611884634855	0.05136	0.0436730455659018	0.04312	.	.	.	.	.	0.139362	0.47335	T	-0.302102	0.08462	T	-0.375533	0.36245	T	0.736005783081055	0.42524	D	0.722728	0.33613	T	0.4043646	0.61033	0.41523013	0.65643	0.4043646	0.61034	0.41523013	0.65643	-3.607	0.17958	T	.	.	0.175	0.38300	B	.	.	3.877831	0.56346	23.7	0.99937956586959031	0.99698	0.21070	0.21270	N	AEFDBI	0.107924	0.21486	N	0.158205653687985	0.49202	3.123163	0.0590918516666025	0.42513	2.572693	0.00265252540650421	0.09608	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.22	2.22	0.27116	1.695000	0.37381	6.701000	0.56371	0.373000	0.20310	0.907000	0.31601	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	7.884	0.28800	857	0.34089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1075.33	37	chr5	157675184	.	G	A	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.464;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1197:.	18	0	1	0
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V,RNF145:NM_001199381:exon10:c.A1516G:p.I506V,RNF145:NM_001199382:exon10:c.A1507G:p.I503V,RNF145:NM_001199383:exon10:c.A1465G:p.I489V,RNF145:NM_144726:exon10:c.A1549G:p.I517V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.67	91	chr5	159161427	.	T	C	104.67	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.939;DP=1225;ExcessHet=0.3672;FS=123.785;InbreedingCoeff=-0.0973;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.61;SOR=9.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	15	0	3	1
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.05263	3232.81	36	chr5	159323321	.	C	T	3232.81	.	AC=2;AF=0.053;AN=38;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.01;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	1	0	0
chr5	159917555	159917555	C	T	exonic	ADRA1B	.	nonsynonymous SNV	ADRA1B:NM_000679:exon1:c.C650T:p.A217V	.	423	1095	4	0	0	4	0.00182315	.	.	.	4125333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00438991833739	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0006	0.0001358	21	154602	rs751740593	8.346e-05	8.345e-05	6.126e-05	0.0001	0.0023	7.136e-05	6.684e-05	0.0013	0.0011	8.961e-05	8.945e-05	3.827e-05	2.519e-05	0	0.0023	5.396e-05	0.0001	0.0004	2.631e-05	2.627e-05	0	5.386e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.053	0.22573	B	0.065	0.27321	B	0.017531	0.27701	N	0.419321	1	0.08975	N	0.665	0.16292	N	1.31	0.35405	T	-0.67	0.19297	N	0.075	0.04913	-0.9972	0.30701	T	0.036	0.15596	T	10	0.042579204	0.03022	T	0.00439	0.10718	T	0.109	0.30843	0.478	0.55663	0.365892764245	0.36201	0.55904854325453	0.55831	0.451973113552	0.44930	0.56005012989	0.47275	T	0.160034	0.50372	T	-0.475522	0.00786	T	-0.584571	0.14139	T	0.0267269890755415	0.01505	T	0.824917	0.48720	T	0.048843056	0.08579	0.101345316	0.24258	0.048843056	0.08579	0.101345316	0.24257	-4.46	0.30362	T	.	.	0.081	0.08465	B	.	.	2.883084	0.38162	20.7	0.79655356433737579	0.12840	0.17383	0.19813	N	AEFDBCI	0.105879	0.21142	N	-0.715885526240636	0.15576	0.7861258	-0.505236019966997	0.22010	1.193441	0.999999425091727	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.93	4.17	0.48303	0.807000	0.26800	4.917000	0.46007	-0.173000	0.11020	0.281000	0.25150	1.000000	0.68203	0.996000	0.76049	0.0:0.7022:0.0:0.2978	6.626	0.22026	923	0.18507	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1674.33	40	chr5	159917555	.	C	T	1674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=811;ExcessHet=0;FS=4.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.225;SOR=1.049	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr5	159972042	159972042	-	CGCCGCCGA	exonic	ADRA1B	.	nonframeshift insertion	ADRA1B:NM_000679:exon2:c.1113_1114insCGCCGCCGA:p.R380_L381insRRR	.	359	1162	1	0	0	1	0.000430108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0006	0.0003	0	8.154e-05	0.0004916	76	154602	rs764801657	0.0040	0.0036	0.0040	0.0040	0.0047	0.0039	0.0039	0.0046	0.0045	0.0006	0.0008	0.0008	3.425e-05	0.0013	0.0004	0.0047	0.0026	0.0001	0.0030	0.0031	0.0036	0.0024	0.0052	0.0028	0.0027	0.0048	0.0046	0.0010	0	0.0026	0.0009	0	0.0012	0	0.0052	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	305.29	41	chr5	159972042	.	C	CCGCCGCCGA	305.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.455;DP=701;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-2.267;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	18	0	1	0
chr5	160093184	160093184	G	C	exonic	PWWP2A	.	nonsynonymous SNV	PWWP2A:NM_001130864:exon2:c.C1466G:p.S489C,PWWP2A:NM_001267035:exon2:c.C1466G:p.S489C,PWWP2A:NM_052927:exon2:c.C1466G:p.S489C,PWWP2A:NM_001349733:exon3:c.C815G:p.S272C,PWWP2A:NM_001349735:exon3:c.C815G:p.S272C,PWWP2A:NM_001349732:exon4:c.C815G:p.S272C,PWWP2A:NM_001349734:exon4:c.C815G:p.S272C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0202613134518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.1	0.28011	L	1.21	0.37230	T	-1.28	0.32185	N	0.63	0.66615	-0.9094	0.46928	T	0.147	0.47165	T	10	0.22601551	0.39446	T	0.020261	0.42817	T	0.221	0.51721	0.205	0.12076	0.043077524339	0.03247	0.3677792166060608	0.36691	1.73204827152	0.90747	0.634203970432	0.57742	T	0.022956	0.17609	T	-0.011813	0.50013	T	-0.254745	0.49348	T	0.86379998922348	0.51401	D	0.918208	0.70605	D	0.16488823	0.36725	0.13418183	0.32159	0.16488823	0.36725	0.13418183	0.32158	-5.806	0.46993	T	.	.	0.18	0.39185	B	.;.;.	.;.;.	4.219175	0.63804	24.6	0.97832746737678811	0.36272	0.96023	0.67184	D	ALL	0.543422	0.55876	D	0.329341403318956	0.57659	3.934199	0.3619452724718	0.59231	4.099169	0.999999999859803	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	4.99	0.65942	7.187000	0.77268	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0701:0.0:0.9299:0.0	14.662	0.68482	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	33	chr5	160093184	.	G	C	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=744;ExcessHet=0;FS=6.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.405;SOR=1.06	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	18	0	1	0
chr5	160259745	160259745	C	T	exonic	CCNJL	.	nonsynonymous SNV	CCNJL:NM_001308173:exon4:c.G307A:p.V103I,CCNJL:NM_024565:exon5:c.G451A:p.V151I	.	430	1072	19	1	0	21	0.00969977	.	.	.	2825503	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.246	.	0.0067	0.00459265	0.0072	0.0030	0.0075	0	0.0009	0.0106	0.0046	0.0015	0.0072056	1114	154602	rs139134014	0.0098	0.0098	0.0101	0.0095	0.0117	0.0097	0.0096	0.0115	0.0114	0.0019	0.0076	0.0054	5.042e-05	0.0013	0.0116	0.0117	0.0088	0.0015	0.0069	0.0069	0.0076	0.0062	0.0110	0.0066	0.0064	0.0104	0.0101	0.0024	0	0.0091	0.0072	0	0.0008	0.0204	0.0110	0.0118	0.0008	0.2	0.20381	T	0.091	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000007	0.62929	D	0.063541	0.999999	0.58761	D	1.89	0.50145	L	2.33	0.16492	T	-0.46	0.16393	N	0.59	0.61002	-1.1211	0.02263	T	0.048	0.20592	T	10	0.009744018	0.00219	T	.	.	.	0.246	0.55340	.	.	0.334659703779	0.33074	0.28574121202124275	0.28487	0.682714212984	0.60129	0.49708211422	0.38421	T	0.007417	0.06827	T	-0.416459	0.01803	T	-0.359315	0.38131	T	0.06378534530485	0.07750	T	0.830817	0.52533	T	0.024704264	0.01329	0.04469099	0.05848	0.024704264	0.01329	0.04469099	0.05847	-3.643	0.18481	T	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	3.618382	0.51192	23.1	0.99405797233699356	0.63028	0.97474	0.74982	D	AEFBI	0.769500	0.70474	D	0.0687260831938042	0.45009	2.764684	0.018617222673971	0.40579	2.424038	0.999999997513203	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.56	0.55644	7.856000	0.85294	4.940000	0.46203	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9253:0.0:0.0747	13.788	0.62612	925	0.17918	Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like;Cyclin, N-terminal|Cyclin-like|Cyclin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.014946	0.000000	0.000000	0.051724	0.009146	0.003788	0.05263	2015.81	34	chr5	160259745	.	C	T	2015.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.17;SOR=1.316	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	18	1	0	0
chr5	160349583	160349583	G	A	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_031908:exon3:c.C443T:p.T148I	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	.	0.00239617	0.0012	0	8.639e-05	0	0	0	0	0.0090	0.0010867	168	154602	rs201362816	0.0005	0.0005	0.0003	0.0007	0.0085	0.0005	0.0005	0.0080	0.0078	5.974e-05	0	0	2.519e-05	0	0.0005	3.597e-06	0.0007	0.0085	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	0	0	0	0	0.0002	0	0	0	0	0.0077	0.397	0.10588	T	0.295	0.20680	T	.	.	.	.	.	.	0.000008	0.62929	D	0.110201	0.984922	0.40212	D	.	.	.	-2.82	0.91192	D	0.5	0.02945	N	0.121	0.11197	-0.2787	0.75576	T	0.489	0.80584	T	10	0.0072993636	0.00166	T	.	.	.	0.365	0.68495	.	.	0.730030816842	0.72763	0.37726397527956096	0.37641	0.0737233776591	0.08266	0.480472505093	0.36121	T	.	.	.	-0.320021	0.06895	T	-0.224931	0.52262	T	0.14183958614199	0.16433	T	0.448855	0.12628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.	.	3.122502	0.42162	21.5	0.9907663949192812	0.51858	0.98814	0.87202	D	AEFDBI	0.939947	0.94123	D	-0.0776004974872635	0.38376	2.246723	0.156469677267723	0.47486	2.978065	0.999999999999686	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	8.119000	0.89444	11.824000	0.97325	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	19.206	0.93717	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1310.33	37	chr5	160349583	.	G	A	1310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.934;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.947;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1339	18	0	1	0
chr5	160565578	160565578	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366655:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366657:exon25:c.C4225T:p.L1409F,ATP10B:NM_025153:exon26:c.C4261T:p.L1421F	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0046	0.00998403	0.0043	0.0153	0.0011	0.0073	0	2.997e-05	0.0056	0.0177	0.0039133	605	154602	rs61734664	0.0018	0.0018	0.0014	0.0022	0.0182	0.0017	0.0017	0.0175	0.0172	0.0154	0.0007	0	0.0052	0	0.0012	6.385e-05	0.0028	0.0182	0.0047	0.0047	0.0045	0.0048	0.0158	0.0044	0.0043	0.0129	0.0123	0.0136	0	0.0008	0	0.0081	0	0	0.0001	0.0033	0.0158	0.24	0.17701	T	0.738	0.05018	T	0.001	0.07471	B	0.002	0.06944	B	0.079211	0.20998	N	0.442392	1	0.08975	N	0.46	0.12951	N	0.89	0.45636	T	-0.52	0.16187	N	0.035	0.01004	-1.0430	0.16413	T	0.044	0.18783	T	9	0.004099667	0.00080	T	.	.	.	0.064	0.18567	.	.	0.380223377699	0.37629	0.07079351427242406	0.07016	0.0846576647168	0.09566	0.228478685021	0.01857	T	0.004191	0.03601	T	-0.691058	0.00041	T	-0.751153	0.03441	T	0.00179444766714016	0.00018	T	0.607939	0.22935	T	0.055694077	0.10857	0.06809045	0.14173	0.055694077	0.10856	0.06809045	0.14172	-4.605	0.32234	T	.	.	0.068	0.02927	B	.;.	.;.	0.378158	0.07500	4.146	0.96907846392621111	0.31566	0.05978	0.11939	N	AEFDHIJ	0.049509	0.08561	N	-0.783032262373867	0.13752	0.679773	-0.741836468698896	0.15923	0.8398563	0.0550910044288657	0.15002	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	0.651000	0.24559	1.445000	0.26559	0.676000	0.76740	0.116000	0.23103	0.798000	0.26924	0.693000	0.33928	0.2407:0.0:0.7593:0.0	6.741	0.22623	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2461.33	37	chr5	160565578	.	G	A	2461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.541;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1339	18	0	1	0
chr5	160615921	160615921	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon16:c.G2570A:p.R857H,ATP10B:NM_001366655:exon16:c.G2570A:p.R857H,ATP10B:NM_001366657:exon16:c.G2534A:p.R845H,ATP10B:NM_025153:exon17:c.G2570A:p.R857H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0181027619561	0.0006	0.000199681	0.0002	0.0026	0	0	0.0002	4.499e-05	0	6.059e-05	0.000207	32	154602	rs200404119	0.0001	0.0001	0.0002	0.0001	0.0025	0.0001	0.0001	0.0021	0.0019	0.0025	4.472e-05	0	0	0	0.0002	7.285e-05	0.0004	8.117e-05	0.0006	0.0006	0.0007	0.0005	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.551	0.06564	T	0.544	0.09621	T	0.009	0.15093	B	0.003	0.08700	B	0.820055	0.09185	N	0.928252	1	0.08975	N	0.27	0.09956	N	-0.49	0.70365	T	-0.23	0.15379	N	0.095	0.07535	-0.9844	0.33975	T	0.116	0.41075	T	9	0.00589481	0.00132	T	0.018103	0.40048	T	0.073	0.21317	.	.	0.310458034454	0.30648	0.2684973705449085	0.26762	0.0973789555765	0.10997	0.197584986687	0.00390	T	0.001046	0.00572	T	-0.594055	0.00158	T	-0.631643	0.10291	T	0.00857409167080181	0.00105	T	0.0582942	0.00503	T	0.023236547	0.01046	0.040781707	0.04486	0.023236547	0.01046	0.040781707	0.04486	-3.807	0.20909	T	.	.	0.069	0.03128	B	.;.;.	.;.;.	0.232501	0.06135	2.582	0.89164219313966575	0.18564	0.01639	0.05276	N	AEFI	0.069184	0.13683	N	-1.34513843513866	0.03175	0.141422	-1.31561950517632	0.04228	0.1989856	0.537890876487553	0.21229	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	-5.88	0.02100	-1.859000	0.01749	-5.035000	0.01877	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0866:0.2984:0.0:0.615	11.186	0.47884	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1314.33	38	chr5	160615921	.	C	T	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.523;SOR=0.691	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr5	163473509	163473509	C	T	exonic	HMMR	.	stopgain	HMMR:NM_001142557:exon6:c.C595T:p.Q199X,HMMR:NM_012485:exon8:c.C808T:p.Q270X,HMMR:NM_001142556:exon9:c.C856T:p.Q286X,HMMR:NM_012484:exon9:c.C853T:p.Q285X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.036e-05	0	8.764e-05	0	0	7.615e-05	0	0	3.88e-05	6	154602	rs186611419	6.264e-06	6.158e-06	4.159e-06	8.385e-06	0.0002	2.95e-06	2.14e-06	1.621e-05	9.55e-06	0	2.44e-05	0	0	0	0.0002	2.735e-06	0	4.801e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014998	0.28373	N	0.382752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.909	0.91047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26915	0.80364	D	0.311479	0.88722	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	6.715953	0.95633	35	0.99692730372482485	0.80044	0.63816	0.32207	D	AEFBCI	0.099229	0.19978	N	0.568489651674449	0.71215	5.617078	0.361940511648305	0.59231	4.099132	0.173337683293859	0.17768	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.25	3.08	0.34576	0.176000	0.16596	0.571000	0.19607	0.599000	0.40250	0.158000	0.23769	0.997000	0.33255	0.681000	0.33571	0.3248:0.6752:0.0:0.0	14.393	0.66558	934	0.15400	.;.;.;Hyaluronan mediated motility receptor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	821.33	33	chr5	163473509	.	C	T	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=666;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=0.513;SOR=0.359	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	1	0
chr5	168423967	168423967	C	T	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon11:c.C1709T:p.P570L,WWC1:NM_001161662:exon11:c.C1709T:p.P570L,WWC1:NM_015238:exon11:c.C1709T:p.P570L	.	369	1152	1	0	0	1	0.000433839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00597467418284	0.0005	0.000599042	0.0003	0.0008	0.0003	0	0	0.0003	0.0011	0.0002	0.0002393	37	154602	rs146672179	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0.0002	0	2.519e-05	0	0.0007	0.0002	0.0002	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0	0.0003	0	0.0002	0.369	0.11586	T	0.336	0.18232	T	0.0	0.02946	B	0.0	0.04355	B	0.119912	0.19056	N	0.527164	0.999995	0.08975	N	0.84	0.21119	L	2.18	0.18875	T	0.56	0.02680	N	0.04	0.01347	-1.0199	0.23747	T	0.031	0.13199	T	10	0.0092763305	0.00210	T	0.005975	0.15579	T	0.058	0.16647	.	.	0.148003135375	0.14442	0.14213533605303919	0.14136	0.29165342509	0.31571	0.348112344742	0.17644	T	0.013645	0.11764	T	-0.500009	0.00572	T	-0.547353	0.17580	T	0.00618098095491206	0.00068	T	0.726327	0.34071	T	0.043228112	0.06699	0.04755389	0.06876	0.043228112	0.06698	0.04755389	0.06876	-5.691	0.43614	T	.	.	0.076	0.07602	B	.;.	.;.	1.587138	0.20305	14.69	0.45311821847538819	0.03547	0.11392	0.16603	N	AEFDBI	0.156362	0.28170	N	-0.507071698625849	0.21850	1.16264	-0.385502311368015	0.25429	1.398329	0.999999670526978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.98	4.09	0.47038	2.394000	0.44104	1.415000	0.26314	0.599000	0.40250	0.013000	0.18845	0.001000	0.17328	0.933000	0.47100	0.0:0.7699:0.1517:0.0785	8.839	0.34287	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	705.33	35	chr5	168423967	.	C	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.626;DP=742;ExcessHet=0;FS=9.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.43;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	18	0	1	0
chr5	168428738	168428738	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon13:c.A1951G:p.S651G,WWC1:NM_001161662:exon13:c.A1951G:p.S651G,WWC1:NM_015238:exon13:c.A1951G:p.S651G	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	7.7e-05	0.0071885	0.0035	0	8.642e-05	0.0373	0.0064	0.0004	0.0077	0.0015	0.0031047	480	154602	rs79212989	0.0017	0.0017	0.0017	0.0017	0.0419	0.0016	0.0016	0.0402	0.0395	0	0.0002	3.827e-05	0.0419	0.0083	0.0002	0.0001	0.0016	0.0014	0.0019	0.0019	0.0015	0.0023	0.0327	0.0017	0.0016	0.0287	0.0271	2.408e-05	0	0.0004	0	0.0327	0.0076	0	0.0002	0.0028	0.0017	0.54	0.16628	T	0.208	0.26883	T	0.007	0.14184	B	0.006	0.12133	B	0.000107	0.50451	D	0.213402	0.663787	0.33077	D	1.525	0.38595	L	2.09	0.20122	T	-1.24	0.31375	N	0.221	0.24758	-1.0734	0.08681	T	0.009	0.03140	T	10	0.0027630627	0.00043	T	.	.	.	0.039	0.10176	.	.	0.206339911435	0.20273	0.3401482556519837	0.33927	0.269650273618	0.29486	0.471946716309	0.34948	T	0.019756	0.15682	T	-0.511595	0.00492	T	-0.471142	0.25392	T	0.034101595712509	0.02655	T	0.661134	0.27033	T	0.07666436	0.17352	0.05722309	0.10363	0.07666436	0.17352	0.05722309	0.10362	-7.29	0.56124	T	.	.	0.062	0.01328	B	.;.	.;.	2.173389	0.27700	17.55	0.9742972870484059	0.33921	0.95530	0.65088	D	AEFDBI	0.504952	0.53630	D	-0.182121554601621	0.33880	1.927198	0.00809161986734974	0.40090	2.38704	0.999985717426597	0.51787	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.538000	0.60361	3.029000	0.36034	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.9257:0.0:0.0743:0.0	10.123	0.41806	953	0.10115	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1411.33	33	chr5	168428738	.	A	G	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.889;DP=752;ExcessHet=0;FS=3.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.944;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr5	168430220	168430220	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon14:c.A2084G:p.K695R,WWC1:NM_001161662:exon14:c.A2084G:p.K695R,WWC1:NM_015238:exon14:c.A2084G:p.K695R	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0163418596336	0.0011	0.000798722	0.0015	0	0.0014	0	0.0003	0.0021	0.0025	0.0012	0.0012613	195	154602	rs61740510	0.0015	0.0015	0.0015	0.0015	0.0023	0.0015	0.0014	0.0017	0.0016	5.975e-05	0.0008	0.0016	0	0.0003	0.0023	0.0017	0.0013	0.0011	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0023	0	0	0	0.0017	0.0019	0.0015	0.035	0.46910	D	0.038	0.51421	D	0.96	0.64070	D	0.519	0.73362	P	0.000005	0.62929	N	0.104682	0.999994	0.58761	D	2.885	0.83555	M	1.1	0.39050	T	-1.69	0.46673	N	0.244	0.27554	-0.8772	0.49981	T	0.158	0.49178	T	10	0.015007794	0.00315	T	0.016342	0.37549	T	0.166	0.42578	.	.	0.542543016418	0.53907	0.28136465332949323	0.28049	0.241955391217	0.26711	0.446965426207	0.31530	T	0.096653	0.39868	T	-0.426478	0.01557	T	-0.392646	0.34241	T	0.0793158652097816	0.09898	T	0.771723	0.40231	T	0.2853584	0.51557	0.2527979	0.50915	0.2853584	0.51557	0.2527979	0.50914	-5.906	0.45486	T	.	.	0.080	0.11461	B	.;.;.	.;.;.	4.102456	0.61177	24.3	0.99875310549484575	0.95244	0.97318	0.73996	D	AEFDBI	0.607897	0.59769	D	0.396468839924531	0.61230	4.321345	0.355705417135825	0.58852	4.058503	0.999923850039824	0.46280	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.27	2.9	0.32809	4.974000	0.63486	6.952000	0.57027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8542:0.0:0.1458:0.0	9.257	0.36751	955	0.09969	WWC, C2 domain;.;WWC, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1458.33	38	chr5	168430220	.	A	G	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.833;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.7;ReadPosRankSum=-0.37;SOR=0.806	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1367	18	0	1	0
chr5	168666468	168666468	G	A	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon36:c.C4579T:p.L1527F,SLIT3:NM_003062:exon36:c.C4558T:p.L1520F	.	416	1105	1	0	0	1	0.000452284	.	.	.	2294529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0187034121596	.	.	1.065e-05	0	0	0	0	1.813e-05	0	0	6.5e-06	1	154602	rs779367410	5.62e-06	6.156e-06	2.774e-06	8.54e-06	3.685e-05	2.42e-06	1.75e-06	9.79e-06	4.71e-06	0	0	0	0	0	0	3.671e-06	1.707e-05	3.685e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.219	0.25987	T	0.041	0.21357	B	0.048	0.24975	B	0.214438	0.16287	N	0.639603	1	0.08975	N	-0.345	0.03330	N	-0.95	0.75438	T	-1.02	0.26843	N	0.069	0.05037	-0.9443	0.41927	T	0.161	0.49631	T	10	0.060890943	0.07549	T	0.018703	0.40848	T	0.091	0.26358	0.315	0.29096	0.295975759948	0.29207	0.09535033966118793	0.09467	0.304616228059	0.32772	0.307071268559	0.11464	T	0.096177	0.39771	T	-0.197448	0.21174	T	-0.496217	0.22739	T	0.0604235041864079	0.07235	T	0.711029	0.32195	T	0.060859248	0.12538	0.082194135	0.18740	0.060859248	0.12538	0.082194135	0.18740	-5.038	0.37622	T	.	.	0.088	0.11558	B	.;.;.	.;.;.	1.712891	0.21810	15.36	0.9082012858951316	0.20069	0.16944	0.19619	N	AEFDBI	0.266361	0.38329	N	-0.800007280578038	0.13311	0.6547879	-0.753698465948628	0.15632	0.8230696	0.780396086225879	0.23831	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.42	3.58	0.40133	0.518000	0.22554	4.309000	0.42963	0.676000	0.76740	0.010000	0.18352	1.000000	0.68203	0.042000	0.14466	0.137:0.1517:0.3993:0.3121	1.908	0.03082	966	0.07191	Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	486.33	37	chr5	168666468	.	G	A	486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=632;ExcessHet=0;FS=4.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.79;SOR=0.197	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	18	0	1	0
chr5	168669828	168669828	A	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon35:c.T4312G:p.Y1438D,SLIT3:NM_003062:exon35:c.T4291G:p.Y1431D	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0300147469879	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902684983	6.841e-06	6.84e-06	4.084e-06	9.626e-06	0.0004	3.46e-06	2.52e-06	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	6.295e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.051	0.49942	T	0.293	0.32367	B	0.281	0.40336	B	0.135581	0.18477	N	0.602379	0.938156	0.37215	D	2.57	0.75187	M	-0.95	0.75438	T	-4.46	0.77798	D	0.597	0.61596	-0.5329	0.67432	T	0.334	0.70117	T	10	0.36863098	0.53300	T	0.030015	0.52415	D	0.328	0.65026	0.411	0.44723	0.667616128244	0.66481	0.5556478276069194	0.55491	0.597786943548	0.54967	0.27297180891	0.06532	T	0.444537	0.78791	T	0.0368201	0.56627	T	-0.169401	0.57498	T	0.522493898868561	0.33457	D	0.758824	0.38273	T	0.34948733	0.57027	0.37325516	0.62516	0.34948733	0.57027	0.37325516	0.62516	-12.792	0.88488	D	.	.	0.223	0.45421	B	.;.;.	.;.;.	2.702644	0.35308	19.86	0.98296729955061823	0.40002	0.88288	0.48148	D	AEFGBI	0.498232	0.53242	N	-0.229291296184494	0.31936	1.795872	-0.218873661608574	0.30860	1.741224	0.326312131995792	0.19437	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.13	0.00925	0.13400	1.382000	0.33980	2.264000	0.31782	0.756000	0.94297	1.000000	0.71638	0.994000	0.32194	0.995000	0.73285	0.7125:0.0:0.2875:0.0	8.987	0.35162	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1832.81	34	chr5	168669828	.	A	C	1832.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.15;SOR=1.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	18	1	0	0
chr5	168685904	168685904	G	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon31:c.C3359G:p.P1120R,SLIT3:NM_003062:exon31:c.C3338G:p.P1113R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0003	0.00179712	0.0017	0	8.795e-05	0.0112	0.0080	0.0008	0.0012	0.0003	0.0014877	230	154602	rs146512576	0.0008	0.0008	0.0008	0.0008	0.0084	0.0008	0.0008	0.0076	0.0074	0	2.25e-05	7.682e-05	0.0084	0.0079	0.0005	0.0003	0.0012	0.0004	0.0009	0.0009	0.0006	0.0012	0.0085	0.0008	0.0007	0.0065	0.0058	0	0	0	0	0.0085	0.0068	0	0.0002	0.0014	0.0002	0.002	0.72154	D	0.003	0.79402	D	0.978	0.58756	D	0.822	0.59150	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.29	0.32370	L	1.38	0.34050	T	-6.35	0.90976	D	0.832	0.82761	-0.9425	0.42218	T	0.108	0.39123	T	10	0.011828661	0.00257	T	.	.	.	0.372	0.69102	.	.	0.547348538005	0.54391	0.6192366671529678	0.61856	0.921772890521	0.71484	0.589398622513	0.51410	T	0.531761	0.83809	D	-0.232327	0.16343	T	-0.0985361	0.63511	T	0.0888914063256755	0.11085	T	0.940606	0.77652	D	0.67725945	0.76822	0.61372685	0.77521	0.67725945	0.76823	0.61372685	0.77522	-12.645	0.87848	D	.	.	0.235	0.54190	B	.;.;.	.;.;.	4.728949	0.76146	26.5	0.99854688988361429	0.93368	0.98663	0.85295	D	AEFDBI	0.938261	0.93719	D	0.611104937080186	0.73876	6.038274	0.590840673166432	0.74280	6.110544	0.999255319945388	0.38906	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.76	4.76	0.60189	8.150000	0.89570	8.467000	0.77261	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0807:0.0:0.9193:0.0	12.581	0.55742	966	0.07191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1462.33	35	chr5	168685904	.	G	C	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.743;DP=728;ExcessHet=0;FS=3.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.29;SOR=0.423	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chr5	169684220	169684220	A	G	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon8:c.A631G:p.M211V	Immunodeficiency 40, Autosomal recessive	425	1095	2	0	0	2	0.000912409	.	.	.	521257	DOCK2-related_disorder|DOCK2_deficiency	.|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0033	0.00279553	0.0012	0.0112	0.0003	0	0	0.0002	0.0011	0.0006	0.0010673	165	154602	rs151191554	0.0004	0.0004	0.0004	0.0004	0.0112	0.0004	0.0004	0.0102	0.0099	0.0112	0.0003	0	0	1.872e-05	0.0014	0.0001	0.0007	0.0004	0.0028	0.0028	0.0030	0.0027	0.0096	0.0026	0.0025	0.0088	0.0085	0.0096	0	0.0011	0	0	0	0	0.0001	0.0019	0.0004	0.645	0.04928	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.039629	0.24149	N	0.503423	0.999901	0.19694	N	-0.55	0.02420	N	0.95	0.43279	T	0.12	0.05604	N	0.076	0.05037	-1.0864	0.06155	T	0.024	0.10284	T	10	0.004462421	0.00092	T	.	.	.	0.021	0.04004	.	.	0.289831133145	0.28582	0.23901846070516564	0.23815	0.529502878991	0.50509	0.294148445129	0.09532	T	0.039193	0.25106	T	-0.647997	0.00074	T	-0.694184	0.06149	T	0.00568403170234956	0.00062	T	0.538946	0.18179	T	0.021924851	0.00823	0.03680814	0.03203	0.032609783	0.03319	0.039093245	0.03923	-3.551	0.17153	T	.	.	0.052	0.00203	B	.;.	.;.	1.551304	0.19880	14.48	0.90999517943816555	0.20249	0.84044	0.43130	D	AEFBI	0.287731	0.39981	N	-0.559074961233636	0.20200	1.063136	-0.339304088256649	0.26842	1.485293	0.250407944664339	0.18673	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	2.9	0.32809	1.482000	0.35094	5.972000	0.52016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.5501:0.1204:0.0716:0.2579	2.669	0.04747	842	0.36989	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1009.33	35	chr5	169684220	.	A	G	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.423;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr5	170788643	170788643	G	A	exonic	GABRP	.	nonsynonymous SNV	GABRP:NM_001291985:exon2:c.G28A:p.V10M,GABRP:NM_014211:exon2:c.G28A:p.V10M	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0215384847876	0.0049	0.000798722	0.0031	0.0013	0.0030	0	0.0029	0.0045	0.0022	0.0002	0.0032406	501	154602	rs76296815	0.0055	0.0055	0.0057	0.0053	0.0066	0.0054	0.0054	0.0065	0.0065	0.0012	0.0034	0.0031	0	0.0020	0.0009	0.0066	0.0044	0.0004	0.0039	0.0039	0.0042	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0.0055	0.0058	0.0020	0	0.0008	0	0.0062	0.0047	0.0006	0.389	0.10874	T	0.036	0.60972	D	0.001	0.09854	B	0.0	0.04355	B	0.210578	0.03384	N	1.606340	1	0.08975	N	0	0.06538	N	0.6	0.86010	T	0.0	0.09135	N	0.074	0.15888	-0.5701	0.66011	T	0.276	0.64804	T	10	0.008553207	0.00194	T	0.021538	0.44322	T	0.222	0.51872	.	.	0.335910606209	0.33200	0.33232100622855626	0.33145	0.118740960914	0.13371	0.261311173439	0.05048	T	0.055632	0.30062	T	-0.431912	0.01443	T	-0.382157	0.35470	T	0.00513176327198076	0.00055	T	0.461754	0.16548	T	0.024692051	0.01327	0.049587134	0.07607	0.024692051	0.01327	0.049587134	0.07607	-5.382	0.40746	T	.	.	0.114	0.27553	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.739649	0.00179	0.003	0.750299544472671	0.10918	0.00376	0.01908	N	AEFBI	0.050318	0.08782	N	-2.3150680113655	0.00042	0.001803101	-2.42388994587884	0.00035	0.00152302	0.999999992033466	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.574951	0.34960	1	.	.	5.0	-10.0	0.00350	-5.522000	0.00138	-11.353000	0.00612	-3.078000	0.00127	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3276:0.1611:0.5113:0.0	13.130	0.58797	882	0.29131	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1748.33	45	chr5	170788643	.	G	A	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1071;ExcessHet=0;FS=2.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.858;SOR=0.518	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr5	170811981	170811981	T	C	exonic	GABRP	.	nonsynonymous SNV	GABRP:NM_014211:exon10:c.T1046C:p.V349A	.	435	1070	17	0	0	17	0.00788132	.	.	.	2825563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.438	0.0499924964689	0.0063	0.00319489	0.0045	0.0024	0.0035	0	0.0026	0.0058	0.0066	0.0040	0.0044501	688	154602	rs61733087	0.0063	0.0063	0.0064	0.0062	0.0082	0.0062	0.0062	0.0068	0.0068	0.0013	0.0029	0.0081	0	0.0030	0.0082	0.0070	0.0083	0.0045	0.0046	0.0046	0.0051	0.0041	0.0069	0.0043	0.0042	0.0064	0.0062	0.0019	0	0.0048	0.0095	0	0.0015	0.0068	0.0069	0.0066	0.0039	0.87	0.02606	T	0.774	0.04416	T	0.01	0.15535	B	0.008	0.13708	B	0.064012	0.21983	N	0.490044	1	0.81001	D	0.835	0.21042	L	-2.11	0.86216	D	-1.07	0.27876	N	0.335	0.39356	-0.7041	0.60241	T	0.356	0.71842	T	10	0.004833728	0.00103	T	0.049992	0.64053	D	0.438	0.74235	.	.	0.768752833438	0.76663	0.6561368700911943	0.65549	0.371033562888	0.38606	0.560700178146	0.47366	T	0.101763	0.40883	T	-0.186771	0.22731	T	-0.03537	0.68012	D	0.0156340498510777	0.00358	T	0.60264	0.22576	T	0.115350276	0.27221	0.120660454	0.29116	0.115350276	0.27221	0.120660454	0.29115	-3.363	0.14563	T	.	.	0.116	0.23360	B	.;.	.;.	2.568384	0.33279	19.29	0.923580988693111	0.21761	0.74212	0.36301	D	AEFHCI	0.086939	0.17628	N	-0.223818698093124	0.32157	1.81064	0.00144745229989646	0.39782	2.364091	0.0173536962682188	0.12941	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	2.484000	0.44900	5.083000	0.47284	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.259	0.65621	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.010101	0.002717	0.008772	0.000000	0.008621	0.015244	0.000000	0.05263	3924.81	34	chr5	170811981	.	T	C	3924.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=888;ExcessHet=0;FS=4.357;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=32.71;ReadPosRankSum=1.49;SOR=1.198	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	1	0	0
chr5	170909700	170909700	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon6:c.G529A:p.A177T	.	478	1042	2	0	0	2	0.000958773	.	.	.	3203881	RANBP17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.375	.	0.0002	0.0123802	0.0054	0.0006	8.818e-05	0.0719	0.0002	0.0002	0.0044	0.0002	0.0049158	760	154602	rs80184931	0.0025	0.0026	0.0026	0.0025	0.0854	0.0025	0.0024	0.0830	0.0820	0.0002	4.531e-05	0.0001	0.0854	7.536e-05	0.0011	9.364e-05	0.0025	0.0006	0.0026	0.0025	0.0020	0.0031	0.0678	0.0023	0.0023	0.0618	0.0595	0.0004	0	0.0001	0.0003	0.0678	0.0002	0	0.0001	0.0010	0.0011	0.021	0.49117	D	0.037	0.51737	D	0.87	0.47827	P	0.411	0.44827	B	0.000008	0.62929	D	0.000000	0.999959	0.52396	D	2.47	0.71715	M	-0.21	0.66294	T	-3.51	0.68298	D	0.809	0.80473	-0.7012	0.60381	T	0.048	0.20672	T	10	0.0048198104	0.00102	T	.	.	.	0.375	0.69358	.	.	0.783064499603	0.78106	0.3644677923459103	0.36360	0.0601548666932	0.06689	0.605580806732	0.53692	T	0.119473	0.44103	T	-0.199229	0.20917	T	0.0278973	0.72142	D	0.0377265344132991	0.03283	T	0.978402	0.92384	D	0.41596714	0.61822	0.35664946	0.61172	0.41596714	0.61823	0.35664946	0.61172	-9.115	0.68434	D	.	.	0.491	0.64159	A	.	.	3.825377	0.55259	23.6	0.9989787537909528	0.97048	0.98207	0.80539	D	AEFBI	0.653498	0.62651	D	0.744017412837528	0.82515	7.781607	0.730411102327397	0.84689	8.362175	0.999987014793626	0.51787	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.653000	0.74232	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.230	0.86864	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	924.33	38	chr5	170909700	.	G	A	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.105;DP=842;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-3.179;SOR=0.542	GT:AD:DP:GQ:PL	0/1:53,42:95:99:938,0,1260	18	0	1	0
chr5	170911066	170911066	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon7:c.T692C:p.I231T	.	438	1050	33	1	0	35	0.0163934	.	.	.	2825565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.397	.	0.0016	0.00339457	0.0027	0.0002	0.0023	0.0010	0.0002	0.0024	0.0089	0.0068	0.0026067	403	154602	rs139981430	0.0027	0.0027	0.0025	0.0029	0.0348	0.0026	0.0026	0.0308	0.0293	0.0010	0.0031	0.0084	0.0006	0.0002	0.0348	0.0022	0.0052	0.0066	0.0025	0.0025	0.0023	0.0027	0.0071	0.0023	0.0022	0.0058	0.0054	0.0004	0	0.0069	0.0127	0.0012	0.0006	0.0272	0.0020	0.0086	0.0071	0.001	0.78490	D	0.002	0.79402	D	0.783	0.44368	P	0.585	0.50320	P	0.008731	0.30696	N	0.230401	0.994333	0.42244	D	3.085	0.87354	M	-0.37	0.68892	T	-4.33	0.76740	D	0.613	0.62950	-0.4056	0.71850	T	0.316	0.68602	T	10	0.012865514	0.00275	T	.	.	.	0.397	0.71163	.	.	0.724009593189	0.72157	0.29372483154100104	0.29285	0.0294932920179	0.03033	0.693579077721	0.66220	T	0.103817	0.41282	T	-0.255344	0.13451	T	-0.136531	0.60417	T	0.0728362507756266	0.09043	T	0.936906	0.76326	D	0.3997781	0.60717	0.35478574	0.61017	0.3997781	0.60717	0.35478574	0.61017	-9.123	0.68485	D	.	.	0.258	0.49275	B	.	.	3.749630	0.53743	23.4	0.99842135346216487	0.92229	0.95586	0.65314	D	AEFBI	0.621587	0.60622	D	0.470100085705451	0.65351	4.811737	0.454102214455443	0.64982	4.766303	0.873483247570202	0.25467	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.43	4.27	0.50009	6.251000	0.72393	4.266000	0.42826	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0744:0.0:0.9256	10.945	0.46508	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.024169	0.010101	0.014946	0.078947	0.050000	0.034483	0.012195	0.003788	0.02632	971.33	33	chr5	170911066	.	T	C	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.556;DP=716;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.597;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1343	18	0	1	0
chr5	171213672	171213672	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon21:c.G2273A:p.R758Q	.	429	1079	12	2	0	16	0.00735971	.	.	.	2369136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0098204521216	0.0004	.	0.0004	9.61e-05	0.0003	0	0	0.0006	0.0011	0.0005	0.0003687	57	154602	rs149025321	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0003	0.0049	0.0044	5.976e-05	0.0005	0.0024	0	0	0.0066	0.0002	0.0006	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	9.628e-05	0	0	0.0012	0	0	0	0.0003	0.0009	0.0008	0.13	0.26740	T	0.072	0.43344	T	0.0	0.02946	B	0.0	0.01387	B	0.637151	0.10632	N	0.799987	0.990767	0.24128	N	-0.345	0.03330	N	2.02	0.21119	T	0.14	0.05405	N	0.152	0.15609	-0.9541	0.40256	T	0.015	0.05897	T	10	0.02451995	0.00677	T	0.00982	0.25608	T	0.099	0.28413	.	.	0.126345400529	0.12197	0.13364611300296053	0.13288	0.0279603020715	0.02869	0.216464608908	0.01116	T	7.46E-4	0.00347	T	-0.533499	0.00366	T	-0.639948	0.09672	T	0.0174840296417108	0.00484	T	0.883312	0.60567	D	0.03452753	0.03891	0.054152768	0.09262	0.03452753	0.03891	0.054152768	0.09261	-2.928	0.09426	T	.	.	0.072	0.04119	B	.	.	1.573953	0.20145	14.61	0.96033299091175039	0.28512	0.57085	0.30284	D	AEFI	0.054403	0.09890	N	-1.14368436205557	0.05884	0.2694427	-1.08440829511652	0.08007	0.3918414	0.00229460366478043	0.09302	0.706298	0.61202	0	0.624306	0.53593	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.97	-5.26	0.02559	0.545000	0.22976	0.990000	0.23186	0.676000	0.76740	0.998000	0.41325	0.662000	0.26021	0.314000	0.24830	0.5104:0.0:0.1902:0.2994	6.269	0.20155	965	0.07246	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.009146	0.000000	0.02632	1000.33	34	chr5	171213672	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.609;DP=701;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.272;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr5	171265774	171265774	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon25:c.G2870A:p.R957Q	.	.	.	.	.	.	.	.	.	.	.	3315441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.00479977636334	.	.	9.887e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs760918901	8.004e-05	8.003e-05	4.901e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0008	0	0	3.826e-05	0	0	0	1.889e-05	6.623e-05	0.0011	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.152	0.24468	T	0.488	0.11621	T	0.067	0.23653	B	0.005	0.11217	B	0.000034	0.55875	D	0.000000	0.946329	0.37523	D	1.285	0.32305	L	1.98	0.21865	T	-0.8	0.22078	N	0.464	0.50056	-1.0671	0.10062	T	0.040	0.17277	T	10	0.046012104	0.03741	T	0.005	0.12004	T	0.194	0.47447	.	.	0.327952845175	0.32413	0.20255119154839665	0.20172	0.122314340409	0.13782	0.381947338581	0.22532	T	0.002089	0.01499	T	-0.198571	0.21012	T	-0.103561	0.63121	T	0.0572328992043388	0.06726	T	0.855114	0.54241	D	0.096672334	0.22774	0.10674073	0.25683	0.096672334	0.22774	0.10674073	0.25683	-2.525	0.05954	T	.	.	0.097	0.15788	B	.	.	3.445410	0.47949	22.5	0.99769425507358034	0.85750	0.85984	0.45184	D	AEFBI	0.380494	0.46311	N	-0.138645958562624	0.35718	2.055281	0.0707882349504236	0.43088	2.617832	0.999907000593439	0.45458	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.81	5.81	0.92413	3.182000	0.50611	4.092000	0.41811	0.676000	0.76740	0.727000	0.28892	1.000000	0.68203	0.690000	0.33838	0.0:0.0:1.0:0.0	18.21	0.89802	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1463.33	40	chr5	171265774	.	G	A	1463.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=743;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.705;SOR=1.031	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	18	0	1	0
chr5	171309618	171309618	G	T	exonic	TLX3	.	nonsynonymous SNV	TLX3:NM_021025:exon1:c.G253T:p.A85S	.	280	1214	26	2	0	30	0.012205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.243185362763	0.0013	0.000798722	0.0013	0	0.0014	0	0.0006	0.0016	0	0.0016	0.0008926	138	154602	rs34255055	0.0008	0.0008	0.0008	0.0009	0.0057	0.0008	0.0008	0.0042	0.0037	0.0004	0.0012	0.0055	0	0.0003	0.0057	0.0007	0.0017	0.0015	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0011	0.0010	0.0003	0	0.0005	0.0040	0	0.0004	0.0034	0.0013	0.0009	0.0015	0.096	0.31088	T	0.23	0.25135	T	0.016	0.17332	B	0.025	0.20508	B	0.004111	0.34102	N	0.277021	0.934955	0.26957	N	0.97	0.24054	L	-2.79	0.91019	D	-0.44	0.14588	N	0.166	0.17553	-0.4295	0.71083	T	0.551	0.83536	D	10	0.009405673	0.00212	T	0.243185	0.88792	D	0.194	0.47447	.	.	0.885406294205	0.88428	0.370839649992083	0.36997	0.281322479911	0.30605	0.780879020691	0.79060	T	0.199373	0.55664	T	-0.349396	0.04766	T	-0.304739	0.44221	T	0.00990726697803911	0.00131	T	0.779122	0.41282	T	0.0915606	0.21457	0.13071421	0.31403	0.0915606	0.21456	0.13071421	0.31402	-5.438	0.41284	T	.	.	0.072	0.04436	B	.	.	3.591189	0.50680	23.0	0.98047320317959252	0.37835	0.93838	0.59337	D	AEFDBHCI	0.536329	0.55459	D	-0.102069687917046	0.37302	2.168293	0.0636613882169373	0.42737	2.590229	0.99999999818404	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.4	4.4	0.52402	3.898000	0.55993	11.421000	0.92715	0.670000	0.69193	0.887000	0.31133	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.8231:0.1769	11.730	0.50997	668	0.61153	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003546	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2328.33	34	chr5	171309618	.	G	T	2328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=847;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.749;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr5	172339400	172339400	T	A	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.A1705T:p.I569F	Frank-ter Haar syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1610420	SH3PXD2B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	0.0118397619927	.	0.000599042	0.0006	0	0	0	0	0	0	0.0044	0.0004851	75	154602	rs567930218	0.0003	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0041	0.0040	0	0	0	0	0	0.0002	8.993e-07	0.0001	0.0045	0.0001	0.0001	5.14e-05	0.0002	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.005	0.63226	D	0.758	0.04669	T	0.001	0.07471	B	0.0	0.01387	B	0.177000	0.03154	N	1.594730	1	0.08975	N	0	0.06538	N	0.18	0.60361	T	-0.5	0.15782	N	0.042	0.01498	-1.0175	0.24528	T	0.087	0.33857	T	9	0.0030121505	0.00049	T	0.01184	0.29861	T	0.082	0.23913	0.091	0.01065	0.0806252709748	0.07271	0.10648945401786869	0.10578	0.230783154863	0.25627	0.257068902254	0.04548	T	0.039521	0.25219	T	-0.555689	0.00269	T	-0.570718	0.15383	T	0.0524245098883823	0.05920	T	0.371363	0.08780	T	0.06436886	0.13650	0.063797906	0.12692	0.07510456	0.16898	0.05956538	0.11199	-4.178	0.26432	T	0.14372272896926272	0.16361	0.073	0.04847	B	.	.	-0.624309	0.01506	0.095	0.7673194494159794	0.11587	0.11503	0.16677	N	AEFDGBI	0.236632	0.35905	N	-1.62652666059739	0.01138	0.04942721	-1.69389342520518	0.01164	0.05239531	0.99249529199478	0.32860	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.69	-7.91	0.01031	-2.742000	0.00868	-3.083000	0.03076	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6384:0.1046:0.257	13.042	0.58314	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1552.33	33	chr5	172339400	.	T	A	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=761;ExcessHet=0;FS=5.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=0.891;QD=12.03;ReadPosRankSum=3.18;SOR=0.376	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr5	172339433	172339433	C	T	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.G1672A:p.G558S	Frank-ter Haar syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	893933	Inborn_genetic_diseases|not_provided|SH3PXD2B-related_disorder|Frank-Ter_Haar_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0342575011409	.	0.00119808	0.0008	0	0.0003	0	0	0	0.0033	0.0051	0.0006274	97	154602	rs536952235	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	0	0	0	0	0	0	8.993e-07	0.0004	0.0065	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	0	0	0.0077	0.139	0.25768	T	0.533	0.10000	T	0.264	0.31602	B	0.037	0.23121	B	0.009877	0.30165	N	0.350770	0.988197	0.81001	D	2.045	0.56016	M	0.02	0.62318	T	-0.82	0.22508	N	0.171	0.18239	-0.9935	0.31696	T	0.117	0.41363	T	9	0.005800277	0.00129	T	0.034258	0.55552	D	0.165	0.42395	0.149	0.05238	0.472102515431	0.46837	0.25723572152357327	0.25637	0.316987990756	0.33948	0.590140342712	0.51514	T	0.059286	0.31073	T	-0.369891	0.03599	T	-0.30218	0.44496	T	0.041753905222655	0.04010	T	0.830717	0.49671	T	0.046300776	0.07727	0.045479342	0.06130	0.040679295	0.05853	0.06507799	0.13136	-3.782	0.20536	T	0.19397313558426726	0.25541	0.097	0.15654	B	.	.	1.677358	0.21378	15.17	0.99470264548280007	0.66312	0.91297	0.53250	D	AEFDBI	0.389183	0.46850	N	-0.5562295239414	0.20289	1.06846	-0.473776192462472	0.22879	1.24491	0.994333173724758	0.33591	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.83	4.97	0.65419	3.900000	0.56008	1.845000	0.29216	-0.173000	0.11020	0.993000	0.37899	0.929000	0.28499	0.001000	0.02609	0.1628:0.7572:0.0:0.08	7.834	0.28521	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2016.33	33	chr5	172339433	.	C	T	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=763;ExcessHet=0;FS=0.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.304;SOR=0.796	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr5	173163797	173163797	G	A	exonic	BNIP1	.	nonsynonymous SNV	BNIP1:NM_013978:exon5:c.G461A:p.R154Q,BNIP1:NM_001205:exon6:c.G563A:p.R188Q,BNIP1:NM_013980:exon6:c.G590A:p.R197Q,BNIP1:NM_013979:exon7:c.G692A:p.R231Q	.	.	.	.	.	.	.	.	.	.	.	3424048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.317	0.0259122725665	0.0002	.	5.771e-05	0.0003	0	0.0005	0	0	0	0	5.17e-05	8	154602	rs148150409	2.6e-05	2.668e-05	2.315e-05	2.888e-05	0.0005	1.933e-05	1.692e-05	0.0003	0.0003	5.975e-05	0	0	0.0005	0	0	1.439e-05	1.656e-05	0	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0004	1.261e-05	7.98e-06	6.818e-05	2.854e-05	4.826e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.235	0.30235	T	0.019	0.59159	D	0.999	0.90584	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	0.78	0.49358	T	-1.25	0.33798	N	0.789	0.82057	-0.5952	0.65012	T	0.308	0.67858	T	10	0.50143564	0.61571	D	0.025912	0.48854	D	0.317	0.63904	.	.	0.728531110816	0.72611	0.7927313478017146	0.79226	0.49789207699	0.48277	0.844060897827	0.88714	D	0.117463	0.43756	T	-0.0714789	0.41088	T	0.0667739	0.74696	D	0.170805285005056	0.18634	T	0.979402	0.93421	D	0.19969715	0.41918	0.2236924	0.47256	0.19969715	0.41918	0.2236924	0.47255	-10.263	0.75554	D	.	.	0.170	0.42156	B	.;.;.;.	.;.;.;.	5.466366	0.91221	32	0.99935852265440106	0.99621	0.99095	0.91152	D	AEFGBI	0.879408	0.80533	D	0.807262702009112	0.86560	8.924321	0.788064945981029	0.88950	9.779542	0.999999995488063	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	9.602000	0.97623	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.947	0.97186	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	36	chr5	173163797	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=773;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.4;SOR=0.99	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	18	0	1	0
chr5	173989505	173989505	C	T	exonic	C5orf47	.	nonsynonymous SNV	C5orf47:NM_001144954:exon1:c.C242T:p.P81L	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00599042	0.0061	0.0196	0.0048	0	0	0.0085	0	0.0028	0.0012419	192	154602	rs115473626	0.0047	0.0045	0.0048	0.0045	0.0176	0.0046	0.0045	0.0164	0.0159	0.0176	0.0036	0.0077	2.822e-05	0.0148	0.0088	0.0041	0.0061	0.0012	0.0098	0.0098	0.0095	0.0102	0.0186	0.0094	0.0093	0.0175	0.0171	0.0186	0.0011	0.0090	0.0069	0	0.0184	0.0102	0.0049	0.0104	0.0012	0.395	0.10659	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-2.28	0.50830	N	0.025	0.00485	-1.0222	0.22998	T	0.014	0.05513	T	8	0.0047113	0.00099	T	.	.	.	0.022	0.04323	.	.	0.0551355673512	0.04727	0.02208729332052774	0.02160	.	.	.	.	.	0.054679	0.29791	T	-0.708169	0.00033	T	-0.775075	0.02605	T	0.00249957737345957	0.00026	T	0.452755	0.12846	T	0.027760087	0.02015	0.04247452	0.05065	0.027760087	0.02015	0.04247452	0.05065	-3.679	0.19008	T	.	.	0.077	0.06295	B	.	.	-0.049628	0.03954	0.884	0.49522400986126158	0.04224	0.00388	0.01954	N	AEFDBI	0.028796	0.02603	N	-1.8116562881133	0.00517	0.0222669	-1.87970252443646	0.00537	0.02380419	0.197110843992046	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.16	0.067	0.13678	-0.798000	0.04670	-0.643000	0.08067	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.778:0.0:0.222	6.657	0.22185	975	0.05339	.	.	.	.	.	rs115473626	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	37	chr5	173989505	.	C	T	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.548;DP=716;ExcessHet=0;FS=8.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0.707;SOR=0.213	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	18	0	1	0
chr5	176103268	176103268	G	A	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon12:c.G475A:p.G159S	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00066170224445	.	.	0.0003	0.0018	0.0003	0	0	0.0002	0.0011	0.0001	0.0001153	3	26028	rs747117133	0.0005	0.0007	0.0005	0.0004	0.0048	0.0004	0.0004	0.0042	0.0039	0.0048	0.0010	0.0026	7.557e-05	1.872e-05	0.0005	0.0003	0.0011	2.319e-05	0.0066	0.0080	0.0068	0.0064	0.0196	0.0062	0.0061	0.0184	0.0180	0.0196	0	0.0074	0.0075	0	0	0.0136	0.0005	0.0076	0.0002	0.152	0.24468	T	0.375	0.16231	T	0.94	0.52768	P	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.5	0.36586	N	0.191	0.20925	-1.0485	0.14818	T	0.019	0.07893	T	8	0.0061403513	0.00138	T	6.62E-4	0.00367	T	0.125	0.34456	.	.	0.043077524339	0.03247	0.03153948349752216	0.03102	.	.	0.469973772764	0.34676	T	0.01034	0.09344	T	-0.596256	0.00154	T	-0.66979	0.07622	T	0.015575464088775	0.00355	T	0.416058	0.10924	T	0.036890816	0.04625	0.04473753	0.05862	0.036890816	0.04625	0.04473753	0.05862	-2.012	0.03226	T	.	.	0.224	0.45593	B	.;.;.	.;.;.	0.360950	0.07334	3.952	0.66556798729944366	0.08094	0.00063	0.00458	N	AEFDI	0.028522	0.02529	N	-1.47572551237598	0.02022	0.08887476	-1.66871200197649	0.01282	0.05782747	1.02567232814855E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	-2.53	0.05959	-0.219000	0.09233	-1.330000	0.05700	-1.427000	0.01120	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3181:0.193:0.2951:0.1938	0.341	0.00310	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001672	0.005952	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	673.33	119	chr5	176103268	.	G	A	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=1406;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.93;MQRankSum=-5.568;QD=2.61;ReadPosRankSum=-3.535;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr5	176106575	176106575	G	A	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon15:c.G616A:p.A206T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00238076945108	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.84e-05	1	26028	rs780732177	8.352e-05	0.0002	4.359e-05	0.0001	0.0013	7.142e-05	6.69e-05	0.0011	0.0011	5.979e-05	0	0	0	0	0	0	9.949e-05	0.0013	7.876e-05	0.0002	5.137e-05	0.0001	0.0021	4.492e-05	3.509e-05	0.0011	0.0009	0	0	6.532e-05	0	0	0	0	0	0.0005	0.0021	0.0	0.91255	D	0.248	0.26386	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.06	0.47175	N	0.117	0.12913	-1.0743	0.08493	T	0.045	0.19194	T	8	0.044659257	0.03448	T	0.002381	0.04646	T	0.076	0.22200	0.113	0.02240	0.043077524339	0.03247	0.023524466019187514	0.02304	.	.	0.51147121191	0.40427	T	0.025537	0.19075	T	-0.426186	0.01564	T	-0.500532	0.22293	T	0.199057295918465	0.20364	T	0.420158	0.11156	T	0.028720018	0.02252	0.04924757	0.07486	0.028720018	0.02252	0.04924757	0.07485	-6.814	0.52663	T	.	.	0.112	0.38747	B	.;.;.;.;.	.;.;.;.;.	0.142978	0.05365	1.848	0.98711733443265848	0.45069	0.00113	0.00716	N	AEFI	0.025835	0.01836	N	-0.904851794551615	0.10727	0.5140748	-1.14229591891679	0.06907	0.3340864	2.23160943861108E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.886	-1.77	0.07551	-2.709000	0.00890	-20.000000	0.00162	-1.613000	0.00878	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2572:0.0:0.4235:0.3193	1.750	0.02791	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	449.33	33	chr5	176106575	.	G	A	449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.998;DP=986;ExcessHet=0;FS=7.214;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.53;MQRankSum=-8.452;QD=1.69;ReadPosRankSum=0.189;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1246:.	18	0	1	0
chr5	176336856	176336856	A	G	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308200:exon5:c.A634G:p.T212A,SIMC1:NM_198567:exon7:c.A1006G:p.T336A,SIMC1:NM_001308195:exon8:c.A2308G:p.T770A,SIMC1:NM_001308196:exon10:c.A2251G:p.T751A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0616652858154	.	.	2.477e-05	9.649e-05	0	0.0001	0	0	0	6.061e-05	1.94e-05	3	154602	rs749075865	8.21e-06	8.209e-06	8.168e-06	8.252e-06	0.0002	4.38e-06	3.46e-06	2.995e-05	2.038e-05	5.974e-05	0	0	7.557e-05	0	0.0002	0	0	6.956e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.027	0.56456	D	0.056	0.55341	T	0.928	0.73220	P	0.554	0.64886	P	0.004368	0.33816	N	0.235397	0.987143	0.26507	N	1.5	0.37844	L	0.51	0.55439	T	-1.81	0.56787	N	0.336	0.38848	-0.6889	0.60959	T	0.221	0.58396	T	10	0.23900738	0.41033	T	0.061665	0.68404	D	0.157	0.40909	0.262	0.20631	0.611762621539	0.60863	0.33724154832367537	0.33637	0.0970579765109	0.10963	0.496822059155	0.38385	T	0.042407	0.28578	T	-0.241663	0.15137	T	-0.29276	0.45485	T	0.129628106951714	0.15348	T	0.80302	0.45008	T	0.052521843	0.09808	0.057156164	0.10342	0.052521843	0.09807	0.057156164	0.10341	-3.667	0.21988	T	.	.	0.130	0.37083	B	.;.;.;.;.	.;.;.;.;.	3.528224	0.49492	22.8	0.99627066373154882	0.75776	0.77048	0.37841	D	AEFBI	0.118197	0.23122	N	0.267884664772356	0.54528	3.618205	0.222584189071638	0.51102	3.29579	0.628724772412114	0.21949	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	3.328000	0.51766	11.153000	0.87408	0.691000	0.84096	0.505000	0.26994	1.000000	0.68203	0.138000	0.19872	0.8169:0.0:0.0:0.1831	7.911	0.28952	491	0.76657	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	34	chr5	176336856	.	A	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=709;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.251;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	18	0	1	0
chr5	176371743	176371743	A	G	exonic	ARL10	.	nonsynonymous SNV	ARL10:NM_173664:exon4:c.A583G:p.M195V	.	424	1086	10	2	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0005	0.00139776	0.0020	0	0.0010	0	0	0.0010	0	0.0104	0.0016947	262	154602	rs143925981	0.0010	0.0010	0.0008	0.0013	0.0094	0.0010	0.0010	0.0089	0.0087	0.0001	0.0006	0.0070	5.038e-05	0	0.0028	0.0003	0.0016	0.0094	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0010	0.0055	0	0	0.0068	0.0006	0.0009	0.0085	0.75	0.03587	T	0.73	0.05165	T	0.0	0.02946	B	0.001	0.04355	B	0.003856	0.00988	N	2.793670	0.999914	0.19599	N	-2.11	0.00152	N	0.05	0.61923	T	0.94	0.01529	N	0.089	0.06720	-0.9479	0.41330	T	0.057	0.23866	T	10	0.0022372305	0.00033	T	.	.	.	0.050	0.13987	.	.	0.455081427078	0.45129	0.4481407354553157	0.44732	0.464258406265	0.45902	0.230897173285	0.02035	T	0.01069	0.09625	T	-0.588691	0.00171	T	-0.610429	0.11950	T	0.00481901478009985	0.00052	T	0.550145	0.18957	T	0.039028455	0.05311	0.042416707	0.05048	0.039028455	0.05311	0.042416707	0.05048	0.068	0.00326	T	.	.	0.054	0.00334	B	.	.	-0.456283	0.02011	0.179	0.63170296156131933	0.07153	0.01677	0.05358	N	AEFDBI	0.019351	0.00664	N	-1.50154929814924	0.01840	0.08067487	-1.36416195918019	0.03642	0.1703006	0.999439475591971	0.39683	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.39	-0.71	0.10668	-0.014000	0.12594	-0.554000	0.08512	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.895000	0.43227	0.4842:0.1296:0.3862:0.0	6.211	0.19843	474	0.77851	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.005435	0.002924	0.000000	0.008621	0.021341	0.015152	0.02632	1326.33	35	chr5	176371743	.	A	G	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=756;ExcessHet=0;FS=1.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.429;SOR=0.847	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr5	176584661	176584661	G	A	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon19:c.G2380A:p.V794I,CDHR2:NM_017675:exon19:c.G2380A:p.V794I	.	422	1087	12	1	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0240439603718	0.0004	0.00119808	0.0009	0	0.0003	0.0001	0	0.0006	0	0.0043	0.0008409	130	154602	rs143224505	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	5.974e-05	0.0002	0.0014	7.557e-05	1.874e-05	0.0057	0.0002	0.0009	0.0039	0.0004	0.0004	0.0004	0.0005	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0003	0.0020	0.0002	0	0	0.0004	0.0019	0.0035	0.154	0.24277	T	0.254	0.23433	T	0.675	0.41275	P	0.176	0.35644	B	.	.	.	.	1	0.08975	N	1.755	0.45626	L	0.62	0.53302	T	-0.79	0.21860	N	0.254	0.31365	-1.0498	0.14453	T	0.112	0.40145	T	9	0.0053726435	0.00118	T	0.024044	0.47032	T	0.071	0.20720	.	.	0.254244900254	0.25046	0.10977279913874849	0.10906	0.228800903671	0.25434	0.296510279179	0.09882	T	0.006037	0.05478	T	-0.478357	0.00756	T	-0.460424	0.26554	T	0.0136475769916794	0.00253	T	0.49795	0.15494	T	0.18506102	0.39851	0.21335422	0.45843	0.18506102	0.39851	0.21335422	0.45842	-6.03	0.46530	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	0.829131	0.12004	8.563	0.96004035337164362	0.28425	0.15609	0.18995	N	AEFDBI	0.127942	0.24551	N	-0.608308462619473	0.18694	0.9725935	-0.754924769477711	0.15601	0.821355	0.0453574441705733	0.14649	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.98	0.743	0.17496	0.296000	0.18839	0.785000	0.21516	0.665000	0.62972	0.000000	0.06391	0.102000	0.22686	0.001000	0.02609	0.2992:0.0:0.7008:0.0	10.107	0.41714	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	2962.33	38	chr5	176584661	.	G	A	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=1164;ExcessHet=0;FS=5.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.668;SOR=1.022	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr5	176599096	176599096	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G739A:p.D247N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00502156739427	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438445001	1.437e-05	1.437e-05	1.225e-05	1.65e-05	8.963e-05	9.23e-06	7.84e-06	2.375e-05	1.258e-05	8.963e-05	2.236e-05	0	0	0	0	1.439e-05	1.656e-05	0	2.632e-05	2.628e-05	1.286e-05	4.041e-05	4.833e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	2.942e-05	0	0	0.198	0.20532	T	0.658	0.06554	T	0.001	0.07471	B	0.001	0.04355	B	0.317732	0.04055	N	1.577040	1	0.08975	N	0.665	0.16292	N	3.12	0.08106	T	-0.3	0.11913	N	0.046	0.01825	-0.9455	0.41731	T	0.020	0.08360	T	10	0.043355644	0.03176	T	0.005022	0.12690	T	0.024	0.04979	0.239	0.17065	0.0675242888579	0.06100	0.033115592162882256	0.03259	.	.	0.230962008238	0.02040	T	0.002008	0.01413	T	-0.411355	0.01947	T	-0.828659	0.01286	T	0.0503429733216763	0.05560	T	0.445455	0.12454	T	0.086246334	0.20039	0.049049832	0.07414	0.086246334	0.20039	0.049049832	0.07414	-4.942	0.36204	T	.	.	0.090	0.12750	B	.	.	1.940382	0.24643	16.47	0.99267681633471261	0.57457	0.05834	0.11776	N	AEFDBI	0.049347	0.08517	N	-0.923781332229678	0.10288	0.4908899	-0.914474306918353	0.11753	0.6006633	0.976736615578321	0.29753	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.18	2.31	0.27816	0.115000	0.15373	1.475000	0.26781	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.120000	0.19168	0.0:0.6229:0.0:0.3771	7.011	0.24044	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	80	chr5	176599096	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1422;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.91;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	176882104	176882104	T	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon16:c.A2077C:p.M693L	.	370	1150	2	0	0	2	0.00086881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.134480317267	.	0.000599042	0.0002	0	0.0002	0	0.0009	0.0002	0	0.0001	0.0001876	29	154602	rs188423746	0.0001	0.0001	0.0001	0.0001	0.0004	9.206e-05	8.671e-05	0.0002	0.0002	0	0.0004	0	0	0.0008	0	7.914e-05	0.0001	2.319e-05	0.0002	0.0002	0.0001	0.0003	0.0005	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0005	0	0	0.0009	0	0.0001	0	0	0.006	0.63226	D	0.079	0.42086	T	0.565	0.38434	P	0.696	0.54017	P	0.000003	0.62929	D	0.000000	1	0.81001	D	1.82	0.47800	L	-4.0	0.96339	D	-2.74	0.61284	D	0.787	0.78356	0.858	0.95125	D	0.873	0.95786	D	10	0.24072489	0.41237	T	0.13448	0.81691	D	0.935	0.98526	0.666	0.80401	0.977758231027	0.97751	0.6286343102624531	0.62796	0.524287970418	0.50117	0.610395789146	0.54372	T	0.512453	0.82790	D	0.259221	0.79457	D	0.389623	0.91767	D	0.51706063747406	0.33257	D	0.965003	0.87031	D	0.75619346	0.81229	0.815422	0.89246	0.75619346	0.81231	0.815422	0.89246	-9.134	0.68555	D	.	.	0.389	0.61114	A	.;.	.;.	4.001313	0.58965	24.0	0.98728273415497414	0.45304	0.98342	0.81813	D	AEFDBI	0.960960	0.98199	D	0.53689046652691	0.69288	5.335654	0.566954345101731	0.72585	5.833083	0.999999999999594	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.9	4.9	0.63643	8.017000	0.88732	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.661	0.68476	532	0.73501	Hexokinase, C-terminal;Hexokinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1244.33	40	chr5	176882104	.	T	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=742;ExcessHet=0;FS=3.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.399;SOR=1.095	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr5	176888470	176888470	G	A	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon10:c.C1166T:p.A389V	.	.	.	.	.	.	.	.	.	.	.	3266677	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0379704692163	.	.	4.823e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs767209073	1.57e-05	2.189e-05	8.452e-06	2.314e-05	5.569e-05	1.028e-05	8.78e-06	1.042e-05	8.59e-06	0	5.569e-05	0	2.784e-05	0	0	1.667e-05	1.721e-05	0	3.285e-05	3.284e-05	1.285e-05	5.379e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.184	0.21634	T	0.244	0.24123	T	0.016	0.17332	B	0.009	0.14300	B	0.438132	0.04744	N	1.336330	1	0.08975	N	0.28	0.10031	N	-4.02	0.96402	D	-0.73	0.20576	N	0.087	0.06454	-0.2196	0.77161	T	0.670	0.88568	D	10	0.11292997	0.21199	T	0.03797	0.57939	D	0.221	0.51721	0.593	0.72247	0.776756999272	0.77470	0.15273200936221024	0.15195	0.110774659458	0.12502	0.294961541891	0.09652	T	0.153012	0.49367	T	-0.114452	0.34035	T	-0.402179	0.33131	T	0.0346992191681455	0.02757	T	0.562444	0.19755	T	0.06484363	0.13799	0.055147037	0.09618	0.06484363	0.13799	0.055147037	0.09618	-5.399	0.40910	T	.	.	0.080	0.07889	B	.	.	-0.957190	0.00834	0.028	0.90526889442204084	0.19783	0.04845	0.10577	N	AEFDBI	0.214118	0.33962	N	-1.63123628613568	0.01116	0.04848615	-1.69085451345766	0.01178	0.05302391	0.992842014311835	0.32989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-4.53	0.03217	-4.143000	0.00325	-4.692000	0.02031	-0.779000	0.03363	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3976:0.1726:0.1621:0.2677	0.543	0.00606	543	0.72751	Hexokinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	33	chr5	176888470	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.033;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.805;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	2952.33	244	chr5	176889690	.	C	T	2952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.915;SOR=0.667	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr5	176890832	176890832	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon5:c.G524A:p.G175D	.	428	1092	2	0	0	2	0.000914913	.	.	.	3266698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.146874787006	7.7e-05	.	0.0001	0	8.648e-05	0	0	0.0002	0	0.0003	0.0001229	19	154602	rs146251872	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0	0.0026	0	0	0.0019	5.306e-05	0.0003	0.0004	7.882e-05	7.879e-05	0.0001	5.378e-05	7.348e-05	4.495e-05	3.511e-05	2.846e-05	1.858e-05	0	0	6.541e-05	0.0017	0	0	0	7.348e-05	0	0	0.279	0.15561	T	0.27	0.22359	T	0.037	0.20876	B	0.192	0.36449	B	0.008321	0.30907	N	0.230254	0.647796	0.32935	D	1.305	0.32671	L	-5.3	0.98969	D	-1.26	0.31778	N	0.411	0.45142	0.963	0.96595	D	0.908	0.96962	D	10	0.08767113	0.15022	T	0.146875	0.82894	D	0.429	0.73590	.	.	0.948641867756	0.94809	0.6615470413166563	0.66091	0.489115186313	0.47684	0.456038981676	0.32768	T	0.265801	0.63769	T	-0.111734	0.34481	T	-0.0937271	0.63879	T	0.0716022555522117	0.08874	T	0.79572	0.43862	T	0.11094319	0.26220	0.12176781	0.29379	0.11094319	0.26220	0.12176781	0.29378	-6.351	0.49125	T	.	.	0.182	0.39545	B	.	.	2.780498	0.36519	20.3	0.95791056041885547	0.27831	0.17835	0.20007	N	AEFBI	0.397022	0.47326	N	-0.244921986490346	0.31306	1.754107	-0.147330219463224	0.33512	1.917673	0.999997764730231	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	2.125000	0.41639	3.379000	0.37988	0.599000	0.40250	0.230000	0.24643	1.000000	0.68203	0.981000	0.58702	0.0:0.8153:0.0:0.1847	7.500	0.26678	564	0.70960	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	2165.33	35	chr5	176890832	.	C	T	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.591;DP=815;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.098;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	18	0	1	0
chr5	176905445	176905445	T	G	exonic	UIMC1	.	nonsynonymous SNV	UIMC1:NM_001199298:exon15:c.A1997C:p.Q666P,UIMC1:NM_001317961:exon15:c.A1499C:p.Q500P,UIMC1:NM_016290:exon15:c.A1997C:p.Q666P,UIMC1:NM_001199297:exon16:c.A1997C:p.Q666P	.	420	1086	15	1	0	17	0.0077661	.	.	.	4024475	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00642497073246	0.0005	0.000199681	0.0008	0	0.0007	0	0	0.0009	0	0.0019	0.0007827	121	154602	rs145704288	0.0008	0.0008	0.0007	0.0009	0.0153	0.0007	0.0007	0.0127	0.0118	0.0006	0.0009	0.0018	0	0	0.0153	0.0006	0.0017	0.0022	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0007	0.0006	9.623e-05	0	0.0010	0.0014	0	0	0.0238	0.0008	0.0024	0.0010	0.149	0.24758	T	0.429	0.21411	T	0.063	0.26866	B	0.016	0.25828	B	0.046369	0.23446	N	0.389149	0.861878	0.28805	N	2.615	0.76484	M	2.44	0.15376	T	-1.81	0.42575	N	0.173	0.29313	-1.0571	0.12491	T	0.035	0.15204	T	10	0.01127097	0.00247	T	0.006425	0.16899	T	0.048	0.13305	.	.	0.226586394389	0.22295	0.11909426088558273	0.11836	0.192288361204	0.21557	0.375607579947	0.21633	T	0.060801	0.31484	T	-0.475362	0.00788	T	-0.462077	0.26373	T	0.0374802480272142	0.03241	T	0.778122	0.41194	T	0.13653636	0.31647	0.13213734	0.31715	0.14657143	0.33547	0.111912355	0.26998	-2.776	0.09988	T	.	.	0.073	0.04889	B	.;.;.;.	.;.;.;.	2.389850	0.30685	18.51	0.94633349502176733	0.25224	0.72374	0.35426	D	AEFBI	0.141416	0.26358	N	-0.461418642377443	0.23354	1.25357	-0.366433619447899	0.26005	1.433678	0.993275186286127	0.33152	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	2.16	0.26663	0.813000	0.26883	1.944000	0.29846	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.357000	0.25818	0.0:0.2339:0.1741:0.592	4.003	0.09076	693	0.58582	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007049	0.005051	0.012228	0.014620	0.000000	0.017241	0.000000	0.000000	0.02632	816.33	34	chr5	176905445	.	T	G	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.956;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-2.244;SOR=0.713	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr5	177093252	177093252	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1172A:p.R391Q,FGFR4:NM_002011:exon9:c.G1172A:p.R391Q,FGFR4:NM_213647:exon9:c.G1172A:p.R391Q	.	405	1110	7	0	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.0529220344673	7.7e-05	0.000599042	0.0002	0.0001	0.0006	0.0001	0	9.285e-05	0.0011	0.0004	0.0001682	26	154602	rs375466821	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	8.965e-05	0.0004	3.836e-05	5.041e-05	0	0.0012	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	8.661e-05	7.254e-05	0.0001	7.897e-05	4.813e-05	0	6.535e-05	0	0	0	0.0034	0.0002	0.0009	0.0004	0.074	0.34621	T	0.069	0.43913	T	0.76	0.43524	P	0.166	0.35067	B	0.055472	0.22640	N	0.479979	0.775233	0.81001	D	2.455	0.71248	M	-2.03	0.85613	D	-1.99	0.45949	N	0.229	0.28028	-0.1655	0.78537	T	0.509	0.81522	D	10	0.09614086	0.17224	T	0.052922	0.65265	D	0.447	0.74866	.	.	0.948364924225	0.94781	0.5821229167833188	0.58141	0.321114698213	0.34316	0.241012275219	0.02882	T	0.501971	0.82197	D	-0.208347	0.19612	T	-0.209092	0.53782	T	0.042851728225335	0.04211	T	0.725627	0.33984	T	0.07022649	0.15451	0.083599254	0.19169	0.07022649	0.15450	0.083599254	0.19169	-5.733	0.43986	T	.	.	0.091	0.16231	B	.;.	.;.	3.260227	0.44588	22.0	0.99807783336490952	0.89174	0.88904	0.49062	D	AEFDGBCI	0.513069	0.54102	D	-0.175226000415413	0.34167	1.947037	-0.244557527336828	0.29960	1.682778	0.996418766617969	0.34729	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.18	2.36	0.28258	4.787000	0.62125	4.215000	0.42557	-0.212000	0.08331	1.000000	0.71638	0.999000	0.35428	0.931000	0.46843	0.186:0.0:0.814:0.0	9.079	0.35699	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1123.33	36	chr5	177093252	.	G	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.683;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.234;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1107:.	18	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	6781.33	456	chr5	177210738	.	C	T	6781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.09;DP=3497;ExcessHet=0;FS=2.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.452;SOR=0.514	GT:AD:DP:GQ:PL	0/0:330,0:330:99:0,120,1800	18	0	1	0
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T	.	426	1086	10	0	0	10	0.00458295	.	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006135	0.007576	0.05263	1654.83	38	chr5	177332169	.	C	T	1654.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.855;DP=782;ExcessHet=0.119;FS=2.879;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.753;SOR=0.939	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	17	0	2	0
chr5	177385797	177385797	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_001167579:exon2:c.G56A:p.R19H,SLC34A1:NM_003052:exon2:c.G56A:p.R19H	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	1465469	Inborn_genetic_diseases|Hypercalcemia,_infantile,_2|not_provided|Hypophosphatemic_nephrolithiasis/osteoporosis_1	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547|MedGen:C3661900|MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0169397634952	.	.	0.0001	0	9.386e-05	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs765766600	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	0	4.476e-05	0	0.0001	1.879e-05	0.0024	0.0001	0.0002	0.0003	5.916e-05	5.911e-05	3.856e-05	8.073e-05	0.0002	3.078e-05	2.211e-05	3.763e-05	2.576e-05	2.413e-05	0	6.539e-05	0	0.0002	0	0	8.823e-05	0	0	0.102	0.32141	T	0.035	0.52389	D	0.016	0.17332	B	0.003	0.08700	B	0.200248	0.16619	N	0.536654	1	0.08975	N	0.145	0.08828	N	0.77	0.49642	T	-3.98	0.73788	D	0.296	0.33469	-1.0502	0.14341	T	0.069	0.28346	T	10	0.051735073	0.05099	T	0.01694	0.38428	T	0.035	0.08770	0.308	0.27967	0.194818534648	0.19098	0.32771104227368814	0.32684	0.0823347196902	0.09283	0.371807813644	0.21091	T	0.165018	0.51069	T	-0.409991	0.01988	T	-0.562272	0.16163	T	0.0190214070930789	0.00611	T	0.661134	0.27033	T	0.024909608	0.01372	0.024727646	0.00497	0.024909608	0.01371	0.024727646	0.00497	-4.062	0.25379	T	.	.	0.095	0.16275	B	.;.;.	.;.;.	0.734297	0.11034	7.691	0.93194508062137282	0.22860	0.46943	0.27872	N	AEFBI	0.082606	0.16729	N	-1.20933332053521	0.04863	0.2203995	-1.20209427420504	0.05877	0.2812535	0.79494834230558	0.24082	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.93	-1.16	0.09181	1.048000	0.29989	0.439000	0.18405	-1.887000	0.00537	0.282000	0.25160	0.005000	0.19230	0.000000	0.00833	0.2136:0.1241:0.5496:0.1127	3.633	0.07680	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1920.33	36	chr5	177385797	.	G	A	1920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=784;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.014;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1333	18	0	1	0
chr5	177435064	177435064	G	A	exonic	GRK6	.	nonsynonymous SNV	GRK6:NM_001364164:exon10:c.G370A:p.V124M,GRK6:NM_001004105:exon11:c.G1000A:p.V334M,GRK6:NM_001004106:exon11:c.G1000A:p.V334M,GRK6:NM_002082:exon11:c.G1000A:p.V334M	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0013	0.00319489	0.0025	0.0004	0.0004	0	0	0.0013	0.0022	0.0124	0.0022833	353	154602	rs143935970	0.0019	0.0019	0.0015	0.0022	0.0113	0.0018	0.0018	0.0107	0.0104	0.0002	0.0009	0.0010	2.519e-05	1.873e-05	0.0039	0.0014	0.0017	0.0113	0.0012	0.0012	0.0010	0.0014	0.0118	0.0011	0.0010	0.0093	0.0085	0.0004	0	0.0010	0.0009	0	0	0.0034	0.0013	0.0028	0.0118	0.028	0.48642	D	0.062	0.49942	T	0.998	0.77913	D	0.928	0.67350	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.995	0.25082	L	1.81	0.25182	T	-1.83	0.42957	N	0.603	0.62866	-1.0094	0.27105	T	0.091	0.34874	T	10	0.010959148	0.00242	T	.	.	.	0.137	0.36984	.	.	0.55375338871	0.55033	0.665471097586976	0.66484	1.6732094712	0.89882	0.849718809128	0.89573	D	0.304871	0.67715	T	-0.361079	0.04069	T	-0.282046	0.46595	T	0.0193995816189315	0.00645	T	0.889711	0.62583	D	0.297359	0.52666	0.16623408	0.38413	0.297359	0.52666	0.16623408	0.38413	-6.579	0.51191	T	.	.	0.347	0.58697	A	.;.;.;.;.	.;.;.;.;.	5.119054	0.85616	28.7	0.9976194147316324	0.85172	0.97522	0.75297	D	AEFBHCI	0.793397	0.72141	D	0.398974369911757	0.61368	4.336809	0.402196825549314	0.61703	4.37404	0.999999999977355	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.56	4.69	0.58546	8.072000	0.89294	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.863:0.137	15.829	0.78518	923	0.18507	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	947.33	95	chr5	177435064	.	G	A	947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=741;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.713;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	18	0	1	0
chr5	177503142	177503142	C	G	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.G590C:p.S197T,DOK3:NM_001144875:exon6:c.G896C:p.S299T,DOK3:NM_001375798:exon6:c.G896C:p.S299T,DOK3:NM_001375799:exon7:c.G896C:p.S299T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00656367016175	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429759419	1.429e-06	1.368e-06	0	2.898e-06	0.0004	2.4e-07	9e-08	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	0	0	0	6.756e-06	6.578e-06	0	1.389e-05	1.496e-05	0	0	.	.	0	0	0	0	0	0	0	1.496e-05	0	0	0.0	0.91255	D	0.09	0.40267	T	0.137	0.27402	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.52642	T	-0.6	0.22508	N	0.102	0.08506	-1.0504	0.14285	T	0.052	0.22269	T	9	0.056775093	0.06417	T	0.006564	0.17301	T	0.042	0.11227	0.078	0.00601	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.294136	0.09225	T	-0.660282	0.08247	T	0.0984869624614762	0.12189	T	0.294271	0.05429	T	.	.	.	.	.	.	.	.	-3.868	0.21824	T	.	.	0.089	0.15430	B	.;.	.;.	-0.057389	0.03902	0.858	0.95540207027966828	0.27187	0.06904	0.12930	N	AEFDBHCI	0.038137	0.05353	N	-1.07303256522155	0.07144	0.3309701	-1.15179540852759	0.06735	0.3252288	0.999998833144888	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.53	0.621	0.16817	-0.067000	0.11538	-0.331000	0.09890	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.759:0.0:0.241	3.861	0.08505	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	39	chr5	177503142	.	C	G	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.736;DP=1371;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.631;SOR=0.523	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr5	177503357	177503357	G	C	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.C375G:p.I125M,DOK3:NM_001144875:exon6:c.C681G:p.I227M,DOK3:NM_001375798:exon6:c.C681G:p.I227M,DOK3:NM_001375799:exon7:c.C681G:p.I227M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00179712	0.0045	0	0	0	0	0	0	0.0119	0.0006856	106	154602	rs571183873	0.0007	0.0006	0.0004	0.0009	0.0113	0.0006	0.0006	0.0107	0.0105	0	0	0	0	0	0.0009	7.448e-06	0.0005	0.0113	0.0003	0.0003	0.0002	0.0004	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0083	0.018	0.57480	D	0.068	0.46862	T	0.706	0.42003	P	0.26	0.39460	B	.	.	.	.	1	0.08975	N	.	.	.	0.79	0.54149	T	0.09	0.05917	N	0.143	0.14338	-1.0644	0.10689	T	0.081	0.31913	T	9	0.004315555	0.00087	T	.	.	.	0.053	0.14996	0.49	0.57573	0.455081427078	0.45129	.	.	.	.	.	.	.	.	.	.	-0.587519	0.00173	T	-0.606319	0.12285	T	0.0212103546923206	0.00823	T	0.359964	0.08281	T	.	.	.	.	.	.	.	.	-4.174	0.26882	T	.	.	0.251	0.57726	B	.;.	.;.	0.980464	0.13579	10.11	0.9919327689474241	0.55053	0.10375	0.15899	N	AEFDBCI	0.037915	0.05286	N	-0.678011717130514	0.16649	0.8501392	-0.791695831318586	0.14698	0.7693587	0.999999827897805	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.1	2.1	0.26226	-0.087000	0.11181	0.031000	0.13732	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	7.756	0.28088	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002825	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1744.33	39	chr5	177503357	.	G	C	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.103;DP=885;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.335;SOR=1.16	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	18	0	1	0
chr5	177734892	177734892	C	T	exonic	FAM153A	.	nonsynonymous SNV	FAM153A:NM_173663:exon13:c.G475A:p.G159S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0044	0.0413	0.0033	0	0	0.0015	0.0029	0.0002	9.06e-05	14	154602	rs202156625	0.0012	0.0012	0.0012	0.0011	0.0259	0.0011	0.0011	0.0244	0.0238	0.0259	0.0020	0.0073	0	0	0.0043	0.0003	0.0032	0.0001	0.0029	0.0049	0.0028	0.0030	0.0102	0.0027	0.0026	0.0093	0.0089	0.0102	0	0.0026	0.0040	0	0	0.0037	0.0001	0.0035	0	0.171	0.22746	T	0.088	0.40586	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.78	0.42001	N	0.157	0.17002	-1.0883	0.05821	T	0.003	0.00929	T	8	0.0038717687	0.00073	T	.	.	.	0.038	0.09825	.	.	0.0551355673512	0.04727	0.026419826015098066	0.02591	.	.	0.463420271873	0.33779	T	0.043367	0.26478	T	-0.281399	0.10520	T	-0.641987	0.09525	T	0.0120839184317135	0.00192	T	0.416058	0.10924	T	0.037562437	0.04840	0.043406144	0.05394	0.037562437	0.04840	0.043406144	0.05393	-2.112	0.03636	T	.	.	0.210	0.43815	B	.;.;.	.;.;.	1.186064	0.15772	12.09	0.68029161165668905	0.08533	0.00104	0.00666	N	AEFDI	0.041719	0.06380	N	-0.787827348449265	0.13626	0.6726485	-1.01580625129822	0.09438	0.4695303	1.11465189941432E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	0.349	0.15269	-0.140000	0.10323	-20.000000	0.00162	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7419:0.0:0.2581	3.768	0.08153	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019595	0.025862	0.037190	0.009804	0.000000	0.008772	0.004202	0.004310	0.02632	1655.33	38	chr5	177734892	.	C	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.673;DP=796;ExcessHet=0;FS=28.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.49;MQRankSum=3.15;QD=13.14;ReadPosRankSum=2.57;SOR=0.771	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr5	178143652	178143652	A	G	exonic	RMND5B	.	nonsynonymous SNV	RMND5B:NM_001288795:exon6:c.A413G:p.D138G,RMND5B:NM_022762:exon6:c.A452G:p.D151G,RMND5B:NM_001288794:exon7:c.A452G:p.D151G	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00659050359315	.	0.00139776	0.0004	0	0	0	0	3.002e-05	0	0.0032	0.0004075	63	154602	rs561482862	0.0001	0.0001	8.849e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0002	1.799e-06	0.0001	0.0024	7.877e-05	7.874e-05	6.423e-05	9.397e-05	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.45	0.10482	T	0.402	0.14912	T	0.0	0.07471	B	0.001	0.06944	B	0.000013	0.62929	D	0.113933	0.957366	0.39060	D	-0.115	0.04602	N	.	.	.	-0.96	0.25551	N	0.356	0.40465	-1.0483	0.14875	T	0.081	0.32002	T	9	0.006145209	0.00138	T	0.006591	0.17386	T	0.184	0.45763	0.496	0.58520	0.37762505005	0.37376	0.26214385591664097	0.26127	0.255294500027	0.28121	0.569583237171	0.48619	T	0.045298	0.27081	T	-0.344908	0.05056	T	-0.272204	0.47596	T	0.0523298178560495	0.05905	T	0.825917	0.48908	T	0.11679287	0.27542	0.113933496	0.27501	0.11679287	0.27542	0.113933496	0.27500	-4.079	0.24980	T	.	.	0.109	0.26917	B	.;.;.	.;.;.	3.204816	0.43602	21.8	0.97672333858760851	0.35264	0.56363	0.30098	D	AEFBCI	0.209495	0.33547	N	-0.365414676877918	0.26710	1.459795	-0.181938154933238	0.32201	1.829629	0.999996338150188	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	3.150000	0.50359	6.951000	0.57024	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	9.512	0.38247	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2245.33	34	chr5	178143652	.	A	G	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=1.31;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1160	18	0	1	0
chr5	178205018	178205018	A	T	exonic	HNRNPAB	.	nonsynonymous SNV	HNRNPAB:NM_004499:exon2:c.A181T:p.N61Y,HNRNPAB:NM_031266:exon2:c.A181T:p.N61Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.971202960433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.729	0.42602	P	0.316	0.41603	B	0.000013	0.62929	U	0.065030	0.71179	0.33526	D	.	.	.	-2.04	0.85703	D	-4.18	0.75537	D	0.203	0.22486	0.268	0.87032	D	0.522	0.82163	D	10	0.39653066	0.55266	T	0.971203	0.99827	D	0.396	0.71084	0.423	0.46693	0.464188422262	0.46044	0.2568611080730679	0.25600	1.45662375788	0.86267	0.939756512642	0.99446	D	0.081616	0.36639	T	0.0262752	0.55226	T	-0.200034	0.54644	T	0.9921013712883	0.82506	D	0.749125	0.37025	T	.	.	.	.	.	.	.	.	-5.43	0.42783	T	.	.	0.671	0.74101	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.317428	0.66045	24.9	0.97953843802158125	0.37122	0.81179	0.40638	D	AEFDBHCIJ	0.562460	0.57004	D	0.0100191614942113	0.42310	2.546876	0.0165751000738312	0.40483	2.416806	0.99999999999902	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	2.9	2.9	0.32809	4.027000	0.56949	10.191000	0.83237	0.465000	0.21702	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	9.216	0.36510	952	0.10565	.;CARG-binding factor, N-terminal;.;CARG-binding factor, N-terminal;CARG-binding factor, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.46	14	chr5	178205018	.	A	T	55.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=224;ExcessHet=0;FS=0;InbreedingCoeff=-0.0352;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.068;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,146:.	18	0	1	0
chr5	178205021	178205021	G	A	exonic	HNRNPAB	.	nonsynonymous SNV	HNRNPAB:NM_004499:exon2:c.G184A:p.A62T,HNRNPAB:NM_031266:exon2:c.G184A:p.A62T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.878870204504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.46513	D	0.077	0.42614	T	0.987	0.77913	D	0.782	0.65201	P	0.000001	0.84330	U	0.000000	0.999947	0.51968	D	.	.	.	-1.9	0.84628	D	-2.32	0.52128	N	0.106	0.09066	0.463	0.90020	D	0.689	0.89258	D	10	0.36018825	0.52668	T	0.87887	0.99076	D	0.581	0.83137	0.508	0.60386	0.532008030239	0.52849	0.5336422791469659	0.53289	0.743036410755	0.63366	0.914911448956	0.97913	D	0.028	0.21243	T	0.00965898	0.52978	T	-0.223902	0.52361	T	0.973969221115112	0.70312	D	0.968203	0.89184	D	.	.	.	.	.	.	.	.	-4.202	0.26780	T	.	.	0.978	0.90719	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.024659	0.59468	24.1	0.9983652298404424	0.91714	0.81816	0.41145	D	AEFDBHCIJ	0.559987	0.56858	D	0.416209485938714	0.62312	4.445197	0.321742883632493	0.56820	3.845957	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.12	3.12	0.34986	3.744000	0.54831	7.674000	0.64943	0.418000	0.20770	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	12.045	0.52771	952	0.10565	.;CARG-binding factor, N-terminal;.;CARG-binding factor, N-terminal;CARG-binding factor, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.47	14	chr5	178205021	.	G	A	55.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=219;ExcessHet=0;FS=0;InbreedingCoeff=-0.0354;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.068;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,146:.	18	0	1	0
chr5	178222446	178222446	G	C	exonic	PHYKPL	.	nonsynonymous SNV	PHYKPL:NM_001278346:exon8:c.C713G:p.S238C,PHYKPL:NM_153373:exon8:c.C836G:p.S279C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0161740158904	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs754564386	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.026	0.55759	D	0.986	0.61523	D	0.838	0.60045	P	0.000003	0.62929	D	0.105732	0.999794	0.49177	D	1.655	0.42436	L	2.04	0.20808	T	-2.24	0.50175	N	0.399	0.43995	-0.9379	0.42947	T	0.131	0.44148	T	10	0.811556	0.80434	D	0.016174	0.37293	T	0.315	0.63694	0.835	0.94294	0.620205906853	0.61713	0.826687427510996	0.82626	0.0836660372965	0.09433	0.560765147209	0.47376	T	0.484783	0.81195	T	-0.049828	0.44473	T	-0.293865	0.45370	T	0.821211457252502	0.47863	D	0.934707	0.75503	D	0.71458346	0.78861	0.5630313	0.74713	0.71458346	0.78862	0.5630313	0.74713	-6.977	0.53866	T	0.6006010105668234	0.66761	0.190	0.40810	B	.	.	4.463509	0.69484	25.4	0.99364417145724226	0.61155	0.97898	0.77962	D	AEFDBHCI	0.957353	0.97648	D	0.80773480817366	0.86587	8.93364	0.794290271057341	0.89393	9.956647	0.999999999999996	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.34	5.34	0.75982	7.962000	0.87458	7.349000	0.58286	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.919	0.86028	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1460.33	34	chr5	178222446	.	G	C	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.1;SOR=0.697	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1474,0,1658	18	0	1	0
chr5	178247785	178247793	GGGGGGCCA	-	exonic	COL23A1	.	nonframeshift deletion	COL23A1:NM_173465:exon21:c.1251_1259del:p.P420_P422del	.	37	1479	5	0	1	6	0.00168748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0007	0.0044	0.0005	0.0002	0	0.0001	0	0.0019	0.0005563	86	154602	rs776434668	0.0004	0.0004	0.0003	0.0004	0.0040	0.0004	0.0003	0.0035	0.0033	0.0040	0.0003	0.0001	0.0017	0	0.0009	0.0001	0.0003	0.0017	0.0012	0.0012	0.0011	0.0013	0.0038	0.0010	0.0010	0.0033	0.0031	0.0038	0	0	0	0.0008	0	0	0.0001	0.0014	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1180.29	44	chr5	178247784	.	TGGGGGGCCA	T	1180.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=727;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.514;SOR=0.478	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1317	18	0	1	0
chr5	178712839	178712839	T	A	exonic	ZNF354A	.	nonsynonymous SNV	ZNF354A:NM_001324339:exon4:c.A913T:p.I305F,ZNF354A:NM_005649:exon5:c.A1039T:p.I347F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00177042804428	.	.	1.65e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs760188820	5.472e-06	5.472e-06	2.722e-06	8.251e-06	9.275e-05	2.35e-06	1.7e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.03	0.54159	D	0.257	0.31412	B	0.143	0.33763	B	.	.	.	.	0.999983	0.18198	N	2.77	0.80896	M	2.28	0.17271	T	-2.8	0.59226	D	0.212	0.23632	-0.9797	0.35071	T	0.055	0.23300	T	9	0.075945854	0.11802	T	0.00177	0.03012	T	0.041	0.10877	0.31	0.28289	0.0954503805726	0.09146	0.13921868603784837	0.13844	0.472449108266	0.46487	0.503391444683	0.39299	T	0.214417	0.57600	T	-0.374382	0.03378	T	-0.538882	0.18406	T	0.161731865923335	0.17998	T	0.030197	0.00189	T	0.15937458	0.35805	0.16381997	0.37982	0.15937458	0.35804	0.16381997	0.37981	-5.752	0.44154	T	.	.	0.110	0.21125	B	.	.	1.974098	0.25078	16.63	0.75985732366324066	0.11288	0.00077	0.00530	N	AEFDBCI	0.086564	0.17551	N	-0.908635833251642	0.10638	0.509373	-1.08712365967064	0.07953	0.3889806	0.155323122044831	0.17507	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.86	-3.09	0.05006	0.743000	0.25899	-0.307000	0.10069	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.810000	0.38174	0.0:0.2413:0.4675:0.2912	6.463	0.21168	967	0.07127	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	35	chr5	178712839	.	T	A	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.341;DP=1191;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=-2.231;QD=12.85;ReadPosRankSum=-1.575;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr5	178883141	178883141	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G689A:p.R230H	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00385337561426	0.0060	0.00179712	0.0051	0.0009	0.0009	0	0.0029	0.0073	0.0011	0.0056	0.0046183	714	154602	rs61740657	0.0055	0.0055	0.0055	0.0055	0.0064	0.0054	0.0054	0.0062	0.0062	0.0009	0.0013	7.663e-05	5.041e-05	0.0025	0.0024	0.0064	0.0046	0.0058	0.0032	0.0032	0.0033	0.0031	0.0064	0.0030	0.0029	0.0051	0.0049	0.0010	0	0.0014	0	0	0.0016	0	0.0055	0.0019	0.0064	0.045	0.40832	D	0.21	0.26714	T	0.999	0.77913	D	0.528	0.48482	P	.	.	.	.	1	0.08975	N	1.795	0.47270	L	1.95	0.22474	T	-1.01	0.26639	N	0.185	0.20129	-1.0418	0.16770	T	0.035	0.14857	T	9	0.006136775	0.00138	T	0.003853	0.09024	T	0.143	0.38195	.	.	0.0611884634855	0.05136	0.07072194620631825	0.07009	0.995685470346	0.74223	0.329632908106	0.14878	T	0.028204	0.20484	T	-0.483812	0.00703	T	-0.462893	0.26284	T	0.0502738953255207	0.05548	T	0.648535	0.25952	T	0.06904754	0.15094	0.06271678	0.12312	0.06904754	0.15094	0.06271678	0.12312	-4.542	0.31434	T	.	.	0.135	0.29422	B	.	.	3.511753	0.49179	22.7	0.99719999051690533	0.81984	0.02223	0.06466	N	AEFDBHCI	0.032903	0.03805	N	-0.00233404095738626	0.41749	2.50289	-0.084095280576821	0.36047	2.092892	0.00536573742973005	0.10916	0.562547	0.31514	0	0.546412	0.12157	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	3.53	2.54	0.29674	-0.769000	0.04816	-0.522000	0.08684	0.588000	0.31329	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.137:0.0:0.5963:0.2667	3.611	0.07604	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.011364	0.02632	1864.33	34	chr5	178883141	.	G	A	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=765;ExcessHet=0;FS=6.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.458;SOR=1.266	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr5	178965449	178965449	A	C	exonic	ZNF454	.	nonsynonymous SNV	ZNF454:NM_001178089:exon5:c.A1045C:p.I349L,ZNF454:NM_001178090:exon5:c.A1045C:p.I349L,ZNF454:NM_001323306:exon5:c.A1045C:p.I349L,ZNF454:NM_182594:exon5:c.A1045C:p.I349L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00795171943955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937383667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.032	0.53426	D	0.476	0.36665	P	0.145	0.33871	B	0.001206	0.39820	N	0.000000	0.984345	0.24808	N	0.33	0.10399	N	3.61	0.04446	T	-1.68	0.40082	N	0.273	0.30914	-0.9876	0.33200	T	0.012	0.04653	T	10	0.14670193	0.27809	T	0.007952	0.21084	T	0.080	0.23350	0.408	0.44230	0.408036853922	0.40422	0.10028333077146188	0.09959	0.822925345412	0.67263	0.811176478863	0.83672	D	0.006208	0.05647	T	-0.174727	0.24522	T	-0.488759	0.23522	T	0.61519330739975	0.37010	D	0.050495	0.00358	T	0.20109557	0.42108	0.18984798	0.42355	0.20109557	0.42108	0.18984798	0.42354	-6.991	0.53968	T	.	.	0.611	0.73855	P	.;.	.;.	4.054857	0.60130	24.2	0.98359805662445032	0.40628	0.01021	0.03839	N	AEFBHCI	0.253356	0.37287	N	-0.315524852043747	0.28558	1.576165	-0.288130455519677	0.28489	1.588824	0.00350226540413078	0.10150	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.21	4.21	0.48984	1.739000	0.37842	6.963000	0.57064	0.658000	0.54486	0.005000	0.17040	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.553	0.49984	793	0.45818	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	42	chr5	178965449	.	A	C	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=817;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.683;SOR=0.77	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1006076	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	2747.33	216	chr5	178986908	.	G	A	2747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.113;DP=2119;ExcessHet=0;FS=3.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.106;SOR=0.928	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	18	0	1	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1455	66	1	0	68	0.0228341	.	.	YES	105546	GRM6-related_disorder|not_provided|not_specified|Congenital_stationary_night_blindness_1B	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.004076	0.000000	0.050000	0.025862	0.012195	0.015152	0.02632	1326.33	34	chr5	178991554	.	C	A	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.086;DP=759;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.14;SOR=0.775	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr5	179114270	179114270	C	T	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon22:c.G3233A:p.R1078H	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4122013	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.336	0.0548550732063	.	.	2.49e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs752742612	1.3e-05	1.368e-05	1.77e-05	8.251e-06	5.974e-05	8.31e-06	6.7e-06	9.89e-06	6.42e-06	5.974e-05	0	0	2.519e-05	0	0	1.349e-05	0	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.959	0.70163	D	0.007890	0.31137	N	0.225652	0.997265	0.43752	D	2.32	0.66415	M	0.03	0.62183	T	-3.88	0.72710	D	0.476	0.51137	-0.3397	0.73853	T	0.371	0.73053	T	10	0.5677784	0.65148	D	0.054855	0.66014	D	0.336	0.65816	0.523	0.62668	0.722221533642	0.71977	0.6730192494549355	0.67239	1.37764237124	0.84714	0.60002720356	0.52908	T	0.678546	0.90536	D	-0.11367	0.34163	T	-0.219528	0.52783	T	0.938496351242065	0.60916	D	.	.	.	0.18970609	0.40523	0.1286056	0.30939	0.18970609	0.40523	0.1286056	0.30938	-6.266	0.48453	T	.	.	0.138	0.30049	B	.	.	4.798682	0.77943	26.8	0.99910258320281364	0.98022	0.96915	0.71636	D	AEFBI	0.863349	0.78187	D	0.528236926133196	0.68767	5.262642	0.46176392475915	0.65478	4.828584	0.996171875442974	0.34572	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.29	3.47	0.38831	4.905000	0.62982	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7878:0.1372:0.075	10.197	0.42236	740	0.53092	PLAC	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	37	chr5	179114270	.	C	T	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=846;ExcessHet=0;FS=6.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.245;SOR=1.192	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr5	179132290	179132290	T	C	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon15:c.A2230G:p.I744V	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	521092	Inborn_genetic_diseases|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0273476638507	.	.	4.148e-05	0	0	0	0	7.554e-05	0	0	3.23e-05	5	154602	rs201241062	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	0.0002	0.0001	0	2.519e-05	0	0.0010	0.0001	0.0003	1.159e-05	4.599e-05	4.596e-05	5.138e-05	4.035e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0.0032	8.819e-05	0	0	0.003	0.68238	D	0.027	0.55341	D	0.924	0.51285	P	0.713	0.54588	P	0.000043	0.53742	D	0.000000	0.999992	0.58761	D	3.305	0.90531	M	-0.03	0.63077	T	-0.82	0.22508	N	0.486	0.52029	-0.2465	0.76453	T	0.360	0.72163	T	10	0.741114	0.74964	D	0.027348	0.50169	D	0.379	0.69696	0.816	0.93060	0.637674672556	0.63469	0.7946359644941969	0.79416	0.902524785504	0.70688	0.60198777914	0.53185	T	0.190439	0.54497	T	-0.0853553	0.38842	T	-0.155833	0.58725	T	0.530081748962402	0.33737	D	.	.	.	0.3966036	0.60497	0.290496	0.55072	0.3966036	0.60497	0.290496	0.55072	-6.045	0.46654	T	.	.	0.242	0.47589	B	.;.	.;.	3.721428	0.53179	23.3	0.99914668851207078	0.98309	0.98971	0.89357	D	AEFDBI	0.869437	0.78997	D	0.577724087448709	0.71784	5.704135	0.550420995128271	0.71426	5.653172	0.999999927970264	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	6.138000	0.71473	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	14.480	0.67152	649	0.63102	ADAM-TS Spacer 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	745.33	34	chr5	179132290	.	T	C	745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.465;DP=671;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.801;SOR=1.044	GT:AD:DP:GQ:PL	0/1:20,31:51:99:759,0,489	18	0	1	0
chr5	179345261	179345261	A	0	exonic	ADAMTS2	.	.	.	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	52	1338	108	2	22	134	0.0401722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	140.54	17	chr5	179345261	.	A	*	140.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=399;ExcessHet=0.3672;FS=2.644;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.452;SOR=0.648	GT:AD:DP:GQ:PL	0/0:23,0:23:34:0,34,682	17	0	2	0
chr5	179345261	179345261	A	G	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon1:c.T68C:p.L23P,ADAMTS2:NM_021599:exon1:c.T68C:p.L23P	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	52	1338	108	2	22	134	0.0401722	.	.	.	359679	not_specified|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.117	0.0151494019149	.	0.00239617	0	0	.	0	0	0	0	0	0.0013447	35	26028	rs565885690	0.0107	0.0072	0.0107	0.0107	0.0257	0.0105	0.0104	0.0201	0.0180	0.0022	0.0075	0.0222	0	0.0086	0.0257	0.0111	0.0107	0.0022	0.0070	0.0071	0.0075	0.0066	0.0107	0.0067	0.0065	0.0100	0.0098	0.0018	0	0.0069	0.0170	0	0.0055	0.0182	0.0107	0.0099	0.0027	0.092	0.31682	T	0.223	0.28958	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.875907	0.28131	N	0	0.06538	N	0.13	0.61677	T	-0.73	0.21003	N	0.373	0.41459	-1.0476	0.15073	T	0.066	0.27225	T	9	0.006041169	0.00136	T	0.015149	0.35714	T	0.117	0.32689	.	.	0.535909150963	0.53241	0.6365244520002744	0.63586	0.652772849066	0.58453	0.9380453825	0.99379	D	0.263863	0.63558	T	-0.0978394	0.36782	T	-0.378316	0.35920	T	0.0726751704542566	0.09021	T	.	.	.	0.21793336	0.44289	0.26345006	0.52151	0.21793336	0.44288	0.26345006	0.52150	-3.9	0.22482	T	.	.	0.060	0.05404	B	.;.;.	.;.;.	1.772240	0.22535	15.66	0.52447129208029908	0.04750	0.25982	0.22860	N	AEFDBCI	0.056824	0.10534	N	-1.09628424126744	0.06711	0.3097219	-1.06715357423644	0.08353	0.4103412	0.99999999208237	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	0.944	-1.08	0.09428	-0.273000	0.08580	0.693000	0.20782	0.000000	0.17513	0.761000	0.29254	0.998000	0.33993	0.137000	0.19835	0.3302:0.0:0.6698:0.0	6.145	0.19497	738	0.53389	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027933	0.014706	0.040323	0.041096	0.187500	0.000000	0.021429	0.023256	0.02632	140.54	17	chr5	179345261	.	A	G	140.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=399;ExcessHet=0.3672;FS=2.644;InbreedingCoeff=-0.087;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.452;SOR=0.648	GT:AD:DP:GQ:PL	0/0:23,0:23:34:0,34,682	18	0	1	0
chr5	179550631	179550631	-	GCCGGG	exonic	RUFY1	.	nonframeshift insertion	RUFY1:NM_025158:exon1:c.62_63insGCCGGG:p.G27_S28insPG	.	402	1113	7	0	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0012	0	0	0	0.0156	0.0036	0	0	0.0004995	13	26028	rs745756258	0.0020	0.0019	0.0021	0.0020	0.0036	0.0020	0.0019	0.0023	0.0022	0.0004	0.0016	0.0018	0.0002	0.0004	0.0036	0.0023	0.0023	0.0004	0.0039	0.0035	0.0044	0.0033	0.0075	0.0035	0.0033	0.0056	0.0049	0.0014	0	0.0075	0.0036	0	0.0004	0.0345	0.0049	0.0112	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	525.29	22	chr5	179550631	.	A	AGCCGGG	525.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.916;DP=651;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=-0.579;SOR=0.191	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1116	18	0	1	0
chr5	179651628	179651628	C	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C397T:p.R133C,C5orf60:NM_001305388:exon4:c.C397T:p.R133C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.000399361	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs529065363	7.812e-05	7.46e-05	8.306e-05	7.306e-05	0.0012	6.586e-05	6.14e-05	0.0005	0.0003	6.497e-05	0	0	0	0.0012	0.0012	2.583e-05	0.0001	0.0001	0.0001	0.0001	5.142e-05	0.0002	0.0002	6.511e-05	5.323e-05	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0.0008	0	1.471e-05	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	21	chr5	179651628	.	C	T	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=467;ExcessHet=0;FS=2.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.86;MQRankSum=1.61;QD=5.6;ReadPosRankSum=-0.183;SOR=1.574	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,816	18	0	1	0
chr5	179651890	179651890	T	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T659C:p.L220P,C5orf60:NM_001305388:exon4:c.T659C:p.L220P	.	429	1084	4	0	5	9	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0035	0.0166	0.0117	0.0032	0	0.0016	0	0.0025	0.0001035	16	154602	rs567530098	0.0011	0.0017	0.0010	0.0011	0.0094	0.0010	0.0010	0.0085	0.0082	0.0094	0.0014	0.0002	0.0018	6.221e-05	0.0016	0.0007	0.0022	0.0022	0.0063	0.0065	0.0064	0.0062	0.0179	0.0060	0.0058	0.0168	0.0164	0.0179	0	0.0030	0	0.0043	0	0	0.0018	0.0043	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	184.71	35	chr5	179651890	.	T	C	184.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.197;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=48.93;MQRankSum=1.1;QD=5.13;ReadPosRankSum=0.979;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	17	0	1	1
chr5	179679101	179679101	G	A	exonic	CBY3	.	nonsynonymous SNV	CBY3:NM_001164444:exon2:c.C211T:p.R71C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0311613547257	.	.	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs187808595	0.0001	0.0001	0.0002	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0.0002	0.0003	0	0	0	0.0016	0.0001	0.0003	1.263e-05	7.224e-05	7.223e-05	0.0001	4.033e-05	0.0002	3.969e-05	3.126e-05	5.284e-05	2.834e-05	4.823e-05	0	0.0002	0	0	0	0	7.348e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-1.91	0.44471	N	0.357	0.39861	-0.9972	0.30701	T	0.058	0.24465	T	6	0.13916847	0.26463	T	0.031161	0.53307	D	0.061	0.17616	.	.	0.136095386433	0.13204	0.2728368713829173	0.27196	.	.	0.427026212215	0.28802	T	0.005857	0.05306	T	-0.167324	0.25641	T	-0.183291	0.56217	T	0.250089973211288	0.22877	T	.	.	.	0.13403359	0.31155	0.15656205	0.36649	0.13403359	0.31154	0.15656205	0.36648	-4.355	0.28941	T	.	.	0.131	0.28319	B	.	.	2.230025	0.28468	17.81	0.99749269435412413	0.84152	0.06821	0.12845	N	AEFDBHCIJ	0.057941	0.10832	N	-0.676128887495452	0.16704	0.8533286	-0.733633092019609	0.16126	0.8515571	0.999999999772013	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.64	0.345	0.15249	0.018000	0.13315	0.318000	0.17154	-1.166000	0.01406	0.001000	0.13787	0.967000	0.29559	0.029000	0.12982	0.0:0.2928:0.4396:0.2676	7.855	0.28640	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006112	0.005556	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1579.33	40	chr5	179679101	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=771;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.964;SOR=0.835	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr5	179774225	179774225	A	C	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.A2399C:p.N800T	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00954882993131	0.0024	0.00179712	0.0039	0.0006	0.0011	0	0.0089	0.0059	0.0034	0.0002	0.003771	583	154602	rs148053500	0.0033	0.0033	0.0034	0.0033	0.0189	0.0033	0.0032	0.0160	0.0149	0.0007	0.0010	0.0007	0	0.0096	0.0189	0.0035	0.0037	0.0004	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0030	0.0007	0	0.0019	0.0006	0	0.0082	0.0102	0.0036	0.0047	0	0.016	0.51853	D	0.083	0.41405	T	0.997	0.70673	D	0.851	0.60700	P	0.000351	0.45440	D	0.192835	0.999241	0.46434	D	2.56	0.74772	M	1.78	0.25678	T	-2.18	0.49187	N	0.441	0.47949	-1.0699	0.09436	T	0.064	0.26385	T	10	0.00633952	0.00143	T	0.009549	0.24993	T	0.089	0.25827	.	.	0.410118878471	0.40628	0.30126345385311204	0.30039	0.235098826708	0.26036	0.500824689865	0.38943	T	0.453294	0.79329	T	-0.471734	0.00829	T	-0.446664	0.28067	T	0.0375471707245701	0.03251	T	.	.	.	0.072530955	0.16142	0.08631832	0.19989	0.072530955	0.16141	0.08631832	0.19988	-3.538	0.16968	T	.	.	0.106	0.19598	B	.	.	3.185760	0.43259	21.7	0.99566440947170098	0.72136	0.95499	0.64964	D	AEFDBI	0.272015	0.38775	N	0.153565667690466	0.48981	3.103735	0.103583713508954	0.44732	2.749256	0.999944281848669	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	1.31	0.20837	2.109000	0.41487	2.577000	0.33395	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.6881:0.0:0.3119:0.0	8.387	0.31666	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015625	0.010101	0.016349	0.032164	0.000000	0.017241	0.009146	0.007576	0.02632	1727.33	33	chr5	179774225	.	A	C	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=792;ExcessHet=0;FS=4.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.634;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	18	0	1	0
chr5	179774297	179774297	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2471T:p.P824L	.	425	1069	25	3	0	31	0.0142923	.	.	.	699038	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0081	0.00379393	0.0079	0.0021	0.0049	0.0001	0.0089	0.0121	0.0079	0.0010	0.0082729	1279	154602	rs61753466	0.0099	0.0099	0.0101	0.0096	0.0139	0.0097	0.0097	0.0114	0.0112	0.0016	0.0051	0.0084	0.0019	0.0077	0.0139	0.0114	0.0089	0.0013	0.0073	0.0073	0.0079	0.0067	0.0115	0.0069	0.0068	0.0109	0.0106	0.0020	0.0077	0.0054	0.0061	0.0002	0.0091	0.0272	0.0115	0.0090	0.0010	0.016	0.51853	D	0.141	0.33442	T	0.14	0.27540	B	0.014	0.16862	B	0.021575	0.26806	N	0.360529	0.90788	0.27569	N	1.1	0.28011	L	1.95	0.22474	T	-1.56	0.37759	N	0.15	0.15328	-1.0499	0.14425	T	0.018	0.07423	T	10	0.0033201277	0.00057	T	.	.	.	0.042	0.11227	.	.	0.110392049598	0.10638	0.21418346042024294	0.21334	0.125099360097	0.14101	0.293613195419	0.09451	T	0.341973	0.71081	T	-0.620466	0.00109	T	-0.652356	0.08790	T	0.0153146781190649	0.00339	T	.	.	.	0.04226435	0.06378	0.052958187	0.08829	0.04226435	0.06377	0.052958187	0.08828	-4.249	0.27455	T	.	.	0.086	0.10594	B	.	.	2.096629	0.26672	17.20	0.8690216223610614	0.16851	0.71167	0.34897	D	AEFDBI	0.034060	0.04154	N	-0.777018038746771	0.13910	0.6887983	-0.664925945783745	0.17841	0.9504084	0.999914810423061	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	0.661	0.17044	2.383000	0.44008	3.954000	0.40696	-0.136000	0.12710	1.000000	0.71638	0.997000	0.33255	0.108000	0.18652	0.6005:0.3995:0.0:0.0	13.527	0.61057	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.020202	0.009511	0.002924	0.000000	0.017241	0.006098	0.003788	0.02632	1812.33	33	chr5	179774297	.	C	T	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.098;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	18	0	1	0
chr5	179796001	179796001	A	C	exonic	LTC4S	.	nonsynonymous SNV	LTC4S:NM_145867:exon4:c.A290C:p.Y97S	Leukotriene C4 synthase deficiency, Autosomal recessive	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.94668288637	.	.	7.862e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs780238607	8.506e-05	8.14e-05	8.919e-05	8.083e-05	0.0009	7.208e-05	6.704e-05	0.0006	0.0006	0.0003	0.0004	4.195e-05	0.0009	0	0.0005	4.434e-05	9.022e-05	8.847e-05	8.742e-05	8.653e-05	3.943e-05	0.0001	0.0004	5.168e-05	4.048e-05	7.384e-05	3.116e-05	0.0001	0	0.0001	0	0.0004	0	0.0070	1.49e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.985	0.76457	D	0.001124	0.40136	U	0.170704	0.999963	0.58761	D	2.96	0.85114	M	-2.01	0.85468	D	-8.27	0.97202	D	0.921	0.92433	0.458	0.89955	D	0.706	0.89885	D	10	0.9790336	0.97808	D	0.946683	0.99629	D	0.787	0.92948	0.895	0.97551	0.900814313938	0.89982	0.8973301214139778	0.89704	1.34946530569	0.84047	0.924722075462	0.98661	D	0.401377	0.75870	T	0.176299	0.71702	D	0.317186	0.88973	D	0.806210815906525	0.46781	D	.	.	.	0.9402083	0.95269	0.871627	0.92978	0.9402083	0.95270	0.871627	0.92979	-16.299	0.98175	D	.	.	0.876	0.81230	P	.;.;.	.;.;.	5.209915	0.87414	29.2	0.95954599031982157	0.28281	0.37664	0.25813	N	ALL	0.523082	0.54683	D	0.446053188021258	0.63978	4.642562	0.322825851796372	0.56885	3.852487	0.999999990305314	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	3.86	2.56	0.29842	2.482000	0.44883	9.885000	0.82229	0.557000	0.28285	0.379000	0.25998	1.000000	0.68203	0.983000	0.59808	0.8183:0.1816:0.0:0.0	9.258	0.36757	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003780	0.000000	0.001420	0.006135	0.000000	0.000000	0.006803	0.008130	0.02632	131.33	19	chr5	179796001	.	A	C	131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=473;ExcessHet=0;FS=3.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=0.931;SOR=0.223	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	18	0	1	0
chr5	179837704	179837704	G	C	exonic	MRNIP	.	stopgain	MRNIP:NM_001017987:exon5:c.C554G:p.S185X,MRNIP:NM_016175:exon7:c.C719G:p.S240X	.	0	225	1	0	0	1	0.00221729	.	.	.	299269	Paget_disease_of_bone_3	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0021	0	0	0	0	0	0	0.0156	0.0017852	276	154602	rs199887787	0.0008	0.0008	0.0004	0.0012	0.0131	0.0008	0.0008	0.0125	0.0122	5.974e-05	0	0	7.557e-05	0	0.0007	8.093e-06	0.0010	0.0131	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	4.808e-05	0	0	0	0	0	0	0	0	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.640226	0.05863	N	1.217680	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.068	0.04547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0263326	0.55234	T	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;.	.;.;High;.	6.828624	0.95791	35	0.98961558328481236	0.49344	0.31125	0.24258	N	AEFDBHCI	0.077297	0.15570	N	0.34429594478364	0.58438	4.01615	0.00938752321776537	0.40149	2.391565	0.999997821425471	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.51	3.62	0.40616	1.588000	0.36242	3.413000	0.38202	0.618000	0.50648	0.005000	0.17040	0.468000	0.25038	0.012000	0.09680	0.0:0.0:0.8058:0.1942	10.520	0.44099	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.02632	1400.33	33	chr5	179837704	.	G	C	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=835;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.931;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr5	179853392	179853392	G	A	exonic	MRNIP	.	stopgain	MRNIP:NM_001017987:exon2:c.C112T:p.Q38X,MRNIP:NM_016175:exon2:c.C112T:p.Q38X	.	437	1067	16	2	0	20	0.00928505	.	.	.	2825632	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0034	0.00339457	0.0026	0.0057	0.0020	0.0002	0.0003	0.0033	0.0022	0.0003	0.0027167	420	154602	rs112867427	0.0030	0.0030	0.0030	0.0030	0.0106	0.0029	0.0029	0.0085	0.0077	0.0055	0.0027	0.0048	0.0002	0.0005	0.0106	0.0032	0.0033	0.0006	0.0040	0.0040	0.0038	0.0042	0.0058	0.0037	0.0036	0.0050	0.0048	0.0056	0	0.0058	0.0052	0	0.0008	0.0136	0.0033	0.0090	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000015	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.206	0.23758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190297	0.72990	D	0.503462	0.94693	D	0.0714765072717897	0.08856	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant;.	.;.;.;.;High;.	10.086868	0.99559	45	0.99787027092574287	0.87308	0.81009	0.40506	D	AEFDBCI	0.699072	0.65654	D	0.982233530796849	0.95172	13.374	0.798350469101079	0.89677	10.07522	0.999999999946364	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	4.194000	0.58190	10.653000	0.83529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	13.980	0.63815	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.040404	0.017663	0.002924	0.050000	0.008621	0.006098	0.000000	0.05263	2299.83	39	chr5	179853392	.	G	A	2299.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.523;DP=839;ExcessHet=0.119;FS=0.557;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.657;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	17	0	2	0
chr5	179864106	179864106	T	C	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon21:c.A3044G:p.K1015R,TBC1D9B:NM_198868:exon22:c.A3095G:p.K1032R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0542172424652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	3.05	0.86762	M	0.23	0.59717	T	-2.56	0.55339	D	0.868	0.86511	-0.4088	0.71749	T	0.355	0.71789	T	10	0.6291208	0.68414	D	0.054217	0.65770	D	0.255	0.56562	0.429	0.47680	0.682057204314	0.67935	0.680871286740397	0.68026	0.699373421703	0.61030	0.79964363575	0.81909	T	0.275043	0.64756	T	0.0568837	0.59221	T	-0.156067	0.58704	T	0.996155321598053	0.88774	D	.	.	.	0.2421483	0.47139	0.25457704	0.51126	0.2421483	0.47139	0.25457704	0.51125	-7.712	0.59091	D	.	.	0.218	0.44834	B	.;.;.	.;.;.	4.666572	0.74536	26.2	0.9988666226366919	0.96204	0.98801	0.87029	D	AEFDBI	0.928386	0.91251	D	0.362725258534742	0.59415	4.120685	0.387839806392916	0.60815	4.273378	0.999999911797921	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.36	4.21	0.48984	7.941000	0.87167	7.798000	0.69068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.074:0.0:0.926	10.790	0.45629	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1436.33	40	chr5	179864106	.	T	C	1436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.004;DP=832;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.768;SOR=0.91	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr5	180313875	180313875	T	G	exonic	GFPT2	.	nonsynonymous SNV	GFPT2:NM_005110:exon14:c.A1363C:p.I455L	.	418	1066	36	2	0	40	0.0184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0021	0.0151757	0.0128	0.0033	0.0208	0.0491	0.0003	0.0036	0.0155	0.0279	0.0083569	1292	154602	rs148353512	0.0056	0.0055	0.0050	0.0061	0.0746	0.0055	0.0054	0.0724	0.0714	0.0011	0.0137	0.0024	0.0746	0.0001	0.0128	0.0017	0.0065	0.0244	0.0046	0.0047	0.0043	0.0050	0.0471	0.0044	0.0042	0.0422	0.0403	0.0016	0	0.0084	0.0017	0.0471	0	0.0068	0.0020	0.0038	0.0240	0.129	0.26852	T	0.086	0.40909	T	0.003	0.11197	B	0.05	0.25278	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	0.45	0.56446	T	-1.63	0.39119	N	0.846	0.84194	-1.0855	0.06316	T	0.021	0.08870	T	9	0.009543031	0.00215	T	.	.	.	0.141	0.37795	.	.	0.560341545759	0.55696	0.8772113836989456	0.87688	0.465495561018	0.45986	0.665525376797	0.62199	T	0.495246	0.81805	T	-0.269847	0.11773	T	-0.0909737	0.64089	T	0.033981114724031	0.02635	T	0.965203	0.87125	D	0.5380973	0.69289	0.43856108	0.67237	0.5380973	0.69290	0.43856108	0.67238	-10.258	0.75442	D	.	.	0.178	0.38871	B	.	.	4.503004	0.70449	25.5	0.98438813130103009	0.41486	0.64525	0.32435	D	ALL	0.952914	0.96877	D	0.00594741299997753	0.42124	2.532301	0.237372639751231	0.51934	3.371841	1.0	0.98316	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.241949	0.04745	2	.	.	5.8	5.8	0.92081	7.715000	0.83682	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.0:1.0	16.154	0.81457	970	0.06235	Sugar isomerase (SIS)|Sugar isomerase (SIS)|GlmS/AgaS, SIS domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014199	0.010417	0.012262	0.008772	0.000000	0.000000	0.021605	0.015152	0.02632	608.33	36	chr5	180313875	.	T	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=703;ExcessHet=0;FS=2.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.536;SOR=0.42	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1466	18	0	1	0
chr5	180318888	180318888	C	T	exonic	GFPT2	.	nonsynonymous SNV	GFPT2:NM_005110:exon10:c.G863A:p.G288E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.840	0.167131555664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.018	0.83351	D	0.998	0.73220	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.34	0.90961	M	-1.12	0.77593	T	-7.46	0.95246	D	0.872	0.86941	0.604	0.91950	D	0.709	0.90010	D	9	0.83765197	0.82920	D	0.167132	0.84557	D	0.840	0.94989	0.45	0.51121	0.961455814952	0.96104	0.8357538083864663	0.83535	0.776520448853	0.65064	0.794817447662	0.81175	T	0.708811	0.91678	D	0.368276	0.87902	D	0.291227	0.87747	D	0.996980845928192	0.90511	D	0.989101	0.96368	D	0.8535245	0.87597	0.8492102	0.91451	0.8535245	0.87598	0.8492102	0.91452	-10.84	0.78773	D	.	.	0.986	0.92504	P	.;.	.;.	5.022038	0.83472	28.1	0.99823225120250259	0.90590	0.98757	0.86462	D	AEFBI	0.955271	0.97299	D	0.8565013757474	0.89477	9.987167	0.789975972188339	0.89089	9.833379	0.999999999991644	0.74766	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	7.798000	0.84489	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.0:1.0:0.0:0.0	18.750	0.91774	970	0.06235	Glutamine amidotransferase type 2 domain;Glutamine amidotransferase type 2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	34	chr5	180318888	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.058;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	18	0	1	0
chr5	180569137	180569137	A	G	exonic	CNOT6	.	nonsynonymous SNV	CNOT6:NM_001370474:exon9:c.A770G:p.K257R,CNOT6:NM_001370472:exon10:c.A1055G:p.K352R,CNOT6:NM_001370473:exon10:c.A1040G:p.K347R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00964064540943	.	0.000199681	4.123e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs533238023	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0.0002	8.993e-07	0	0.0002	6.565e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.292	0.14894	T	0.444	0.13177	T	0.009	0.15093	B	0.02	0.19048	B	0.000017	0.62929	N	0.181277	0.999719	0.48481	D	0.225	0.09600	N	1.52	0.30669	T	-0.49	0.15578	N	0.167	0.17966	-1.0859	0.06245	T	0.044	0.18783	T	9	0.07055774	0.10281	T	0.009641	0.25199	T	0.053	0.14996	0.476	0.55342	0.264547087235	0.26054	0.6272700138781732	0.62660	0.495066746443	0.48050	0.614514350891	0.54954	T	0.163704	0.50887	T	-0.410804	0.01963	T	-0.531676	0.19120	T	0.0985480773947318	0.12197	T	0.827017	0.49049	T	0.0547672	0.10553	0.07320179	0.15881	0.0547672	0.10552	0.07320179	0.15881	-3.436	0.15545	T	.	.	0.073	0.04932	B	.;.;.	.;.;.	2.376254	0.30495	18.45	0.99632949975016749	0.76142	0.98263	0.81054	D	AEFDBI	0.664996	0.63397	D	-0.253795445218421	0.30952	1.730815	-0.0609319247850769	0.37021	2.162072	0.99999787836972	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.89	0.63387	6.314000	0.72813	6.999000	0.57189	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.933:0.0:0.067:0.0	11.990	0.52459	958	0.09170	Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6;Endonuclease/exonuclease/phosphatase|CCR4-NOT transcription complex subunit 6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1331.33	44	chr5	180569137	.	A	G	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=890;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.006;SOR=0.844	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr5	180603329	180603329	G	A	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_182925:exon30:c.C3955T:p.R1319W	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	3432363	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0165931583608	7.7e-05	0.000399361	4.322e-05	0.0002	0	0.0002	0	0	0	6.292e-05	4.53e-05	7	154602	rs142322370	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0007	2.413e-05	2.158e-05	0.0002	0.0001	8.961e-05	4.475e-05	0	0.0001	3.748e-05	0.0007	7.195e-06	4.969e-05	0.0002	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0002	3.075e-05	2.208e-05	4.726e-05	3.045e-05	0.0001	0	6.532e-05	0	0	0	0	2.941e-05	0	0.0002	0.198	0.20532	T	0.114	0.36765	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.08	0.77078	T	-1.39	0.34397	N	0.153	0.15749	-0.9499	0.40989	T	0.182	0.52904	T	9	0.025912106	0.00771	T	0.016593	0.37919	T	0.170	0.43303	.	.	0.128874641272	0.12493	0.1881727580680153	0.18735	0.118307522952	0.13319	0.313060700893	0.12369	T	0.173942	0.52300	T	-0.34721	0.04905	T	-0.41651	0.31477	T	0.108441144227982	0.13261	T	0.712529	0.32403	T	0.03485692	0.03992	0.033183623	0.02172	0.03485692	0.03991	0.033183623	0.02171	-5.589	0.42692	T	.	.	0.081	0.08176	B	.	.	2.018575	0.25648	16.84	0.96991380720579401	0.31904	0.17363	0.19804	N	AEFBI	0.199307	0.32611	N	-0.963051228148588	0.09402	0.444803	-0.896719353637844	0.12171	0.6245372	0.0159519831745548	0.12775	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.62	1.15	0.19876	0.283000	0.18605	0.706000	0.20886	-0.251000	0.07141	0.374000	0.25957	0.000000	0.08366	0.410000	0.27006	0.3163:0.2097:0.2614:0.2125	0.179	0.00113	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	912.33	33	chr5	180603329	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=714;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.978;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr5	180792838	180792838	C	T	exonic	MGAT1	.	nonsynonymous SNV	MGAT1:NM_001114619:exon2:c.G134A:p.G45D,MGAT1:NM_001114620:exon2:c.G134A:p.G45D,MGAT1:NM_001364382:exon2:c.G134A:p.G45D,MGAT1:NM_001364383:exon2:c.G134A:p.G45D,MGAT1:NM_001364389:exon2:c.G134A:p.G45D,MGAT1:NM_001364390:exon2:c.G134A:p.G45D,MGAT1:NM_001364392:exon2:c.G134A:p.G45D,MGAT1:NM_002406:exon2:c.G134A:p.G45D,MGAT1:NM_001114617:exon3:c.G134A:p.G45D,MGAT1:NM_001114618:exon3:c.G134A:p.G45D,MGAT1:NM_001364377:exon3:c.G134A:p.G45D,MGAT1:NM_001364379:exon3:c.G134A:p.G45D,MGAT1:NM_001364380:exon3:c.G134A:p.G45D,MGAT1:NM_001364381:exon3:c.G134A:p.G45D,MGAT1:NM_001364384:exon3:c.G134A:p.G45D,MGAT1:NM_001364386:exon3:c.G134A:p.G45D,MGAT1:NM_001364387:exon3:c.G134A:p.G45D,MGAT1:NM_001364391:exon3:c.G134A:p.G45D,MGAT1:NM_001364393:exon3:c.G134A:p.G45D,MGAT1:NM_001364394:exon3:c.G134A:p.G45D,MGAT1:NM_001364395:exon3:c.G134A:p.G45D,MGAT1:NM_001364385:exon4:c.G134A:p.G45D,MGAT1:NM_001364388:exon4:c.G134A:p.G45D	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0061	0.0161741	0.0147	0.0383	0.0032	0	0	0.0003	0	0.0273	0.0040168	621	154602	rs61743256	0.0020	0.0020	0.0015	0.0025	0.0233	0.0019	0.0019	0.0224	0.0221	0.0220	0.0015	0	2.727e-05	0	0.0009	2.762e-05	0.0028	0.0233	0.0078	0.0078	0.0073	0.0082	0.0247	0.0074	0.0072	0.0234	0.0229	0.0247	0	0.0025	0	0.0002	0	0	2.94e-05	0.0038	0.0219	1.0	0.02847	T	0.692	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	0.304491	0.14540	N	0.694372	1	0.08975	N	-1.39	0.00611	N	-1.63	0.82440	D	0.51	0.45222	N	0.085	0.07673	-0.9568	0.39771	T	0.131	0.44129	T	10	0.005622059	0.00125	T	.	.	.	0.184	0.45763	.	.	0.525087790474	0.52154	0.30169071396837066	0.30082	1.01688254697	0.74978	0.55193477869	0.46131	T	0.283365	0.66499	T	-0.410521	0.01971	T	-0.343537	0.39944	T	0.00227345686121769	0.00024	T	0.174183	0.04565	T	0.03107151	0.02881	0.05031648	0.07872	0.03107151	0.02881	0.05031648	0.07871	-4.975	0.36568	T	.	.	0.055	0.00563	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.079935	0.04862	1.454	0.7395565728014778	0.10517	0.00899	0.03527	N	AEFBI	0.069498	0.13758	N	-1.20238463057488	0.04965	0.2252661	-1.18210210160975	0.06208	0.2981238	0.999925400028581	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.71	3.41	0.38145	0.251000	0.18025	1.865000	0.29348	-0.189000	0.09497	0.000000	0.06391	0.992000	0.31684	0.004000	0.06068	0.0:0.2398:0.1766:0.5835	4.021	0.09152	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005133	0.015789	0.002747	0.005952	0.000000	0.000000	0.000000	0.011538	0.02632	1390.33	41	chr5	180792838	.	C	T	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.665;DP=737;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.45;ReadPosRankSum=-0.157;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1322:.	18	0	1	0
chr5	180848896	180848896	A	G	exonic	ZFP62	.	nonsynonymous SNV	ZFP62:NM_001172638:exon2:c.T2599C:p.S867P,ZFP62:NM_001377942:exon2:c.T2500C:p.S834P,ZFP62:NM_001377943:exon2:c.T2599C:p.S867P,ZFP62:NM_001377940:exon3:c.T2500C:p.S834P,ZFP62:NM_001377941:exon3:c.T2500C:p.S834P,ZFP62:NM_152283:exon3:c.T2500C:p.S834P,ZFP62:NM_001377939:exon4:c.T2500C:p.S834P	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00714634362171	0.0004	0.000399361	0.0011	0.0005	0	0	0	0.0025	0	0.0001	0.0001876	29	154602	rs150247342	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0053	0.0047	0.0004	0.0008	0.0081	0	0	0.0070	0.0002	0.0010	0.0002	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	4.815e-05	0	0.0010	0.0072	0	0	0.0034	0.0004	0.0019	0.0010	0.982	0.06980	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.875	0.01443	N	3.15	0.07820	T	2.67	0.00196	N	0.098	0.10626	-0.9265	0.44645	T	0.008	0.02968	T	9	0.0034482777	0.00061	T	0.007146	0.18951	T	0.045	0.12272	.	.	0.0666544352282	0.05500	0.09881781728387663	0.09812	.	.	0.313918143511	0.12500	T	0.001308	0.00783	T	-0.547208	0.00303	T	-0.652718	0.08764	T	0.00595230368663102	0.00065	T	0.0166483	0.00092	T	0.087598875	0.20404	0.07070439	0.15055	0.087598875	0.20404	0.07070439	0.15054	-2.073	0.03470	T	.	.	0.076	0.05935	B	.;.	.;.	0.308280	0.06837	3.363	0.79240276267877896	0.12653	0.19886	0.20833	N	AEFDGBHI	0.148121	0.27194	N	-1.17876836878003	0.05321	0.2423169	-1.1340276282714	0.07058	0.3419225	0.0116187712262719	0.12211	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.48	0.724	0.17389	1.003000	0.29410	1.574000	0.27434	0.756000	0.94297	0.026000	0.20160	0.297000	0.24199	0.194000	0.21720	0.6209:0.0:0.1981:0.181	2.962	0.05534	906	0.23090	.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003348	0.005319	0.000000	0.016949	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr5	180848896	.	A	G	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=753;ExcessHet=0;FS=3.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.219;SOR=0.463	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1308	18	0	1	0
chr5	181005580	181005580	C	T	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon8:c.C1109T:p.T370I	.	409	1108	5	0	0	5	0.00225124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	7.7e-05	0.00778754	0.0044	0	0.0003	0.0003	0	2.997e-05	0.0022	0.0315	0.0038163	590	154602	rs370181017	0.0019	0.0019	0.0011	0.0026	0.0296	0.0018	0.0018	0.0287	0.0283	5.974e-05	4.472e-05	0	2.519e-05	0	0.0010	1.619e-05	0.0024	0.0296	0.0010	0.0010	0.0006	0.0015	0.0309	0.0009	0.0009	0.0268	0.0253	0.0001	0	0.0001	0	0	0	0	1.471e-05	0.0009	0.0309	0.109	0.29288	T	0.083	0.41405	T	0.918	0.50838	P	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0.93	0.23535	L	-0.4	0.69287	T	-1.02	0.26843	N	0.085	0.06190	-0.9450	0.41814	T	0.187	0.53691	T	9	0.0043010116	0.00087	T	.	.	.	0.095	0.27398	.	.	0.542187413537	0.53871	0.11433833773643799	0.11361	0.443312477604	0.44264	0.362779676914	0.19790	T	0.004722	0.04133	T	-0.601416	0.00143	T	-0.614357	0.11633	T	0.0165795820794273	0.00419	T	0.272373	0.04609	T	0.056158777	0.11010	0.044784818	0.05879	0.056158777	0.11010	0.044784818	0.05879	-3.015	0.10343	T	.	.	0.129	0.27613	B	.	.	0.417456	0.07880	4.583	0.95846449107828302	0.27979	0.00744	0.03102	N	AEFGBI	0.050796	0.08912	N	-0.732878623882299	0.15102	0.7581909	-0.91598267760097	0.11717	0.5986386	6.9356996064643E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.71	0.23429	-1.735000	0.01946	-4.892000	0.01939	-0.357000	0.05528	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2478:0.6002:0.0:0.152	3.431	0.06999	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2710.33	236	chr5	181005580	.	C	T	2710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=1588;ExcessHet=0;FS=4.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.594;SOR=0.959	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr5	181059366	181059366	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1112T:p.T371M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.013933137674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220871832	5.048e-06	7.524e-06	4.27e-06	5.846e-06	0.0002	2.1e-06	1.35e-06	2e-06	1.32e-06	0	0	0	0	0	0.0002	5.571e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.053	0.47336	T	0.021	0.18474	B	0.109	0.31370	B	0.188869	0.16901	N	0.432113	1	0.08975	N	1.185	0.30054	L	2.83	0.10771	T	-1.89	0.44094	N	0.079	0.05414	-1.0097	0.27012	T	0.019	0.08079	T	10	0.078151286	0.12421	T	0.013933	0.33698	T	0.020	0.03691	0.372	0.38340	0.0716867268079	0.06686	0.270730880853478	0.26986	0.388266295432	0.40090	0.692328870296	0.66041	T	0.041365	0.25834	T	-0.356804	0.04314	T	-0.750301	0.03473	T	0.0685640589050127	0.08448	T	0.266973	0.04402	T	0.023865769	0.01163	0.09596692	0.22783	0.023865769	0.01163	0.09596692	0.22782	-7.527	0.57801	D	.	.	0.221	0.45174	B	.	.	0.595724	0.09641	6.414	0.9643262232651203	0.29799	0.02942	0.07766	N	AEFDBHI	0.104443	0.20897	N	-1.52123194681948	0.01710	0.07485775	-1.69892921497037	0.01142	0.05136281	0.999999999748872	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.71	-9.42	0.00515	-1.901000	0.01688	-0.606000	0.08245	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.433:0.1139:0.2485:0.2046	1.579	0.02472	.	.	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	49	chr5	181059366	.	C	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=992;ExcessHet=0;FS=1.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.784;SOR=0.892	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1156	18	0	1	0
chr5	181059695	181059695	G	A	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.G1441A:p.A481T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0114047254831	.	.	8.479e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs755536857	1.026e-05	1.026e-05	1.089e-05	9.629e-06	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	1.079e-05	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.821	0.03817	T	0.004	0.12183	B	0.01	0.14941	B	0.788764	0.06699	N	1.157270	0.999998	0.08975	N	-0.925	0.01302	N	0.18	0.60361	T	-0.05	0.07736	N	0.029	0.00666	-1.0176	0.24495	T	0.045	0.19518	T	10	0.051376075	0.05008	T	0.011405	0.28987	T	0.040	0.10527	0.475	0.55182	0.292423486923	0.28857	0.13206284339967952	0.13131	0.265548230911	0.29109	0.472940653563	0.35084	T	0.007701	0.07089	T	-0.405057	0.02144	T	-0.638085	0.09810	T	0.0614690187895099	0.07398	T	0.049595	0.00352	T	0.038627148	0.05182	0.044900488	0.05921	0.038627148	0.05182	0.044900488	0.05921	-5.09	0.37802	T	.	.	0.077	0.06387	B	.	.	-1.042478	0.00713	0.021	0.92225904266905634	0.21600	0.00332	0.01732	N	AEFDBHI	0.065944	0.12889	N	-1.64608730252139	0.01052	0.04562725	-1.68647277103256	0.01198	0.05394228	0.999999996171341	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.22	-7.0	0.01443	-1.095000	0.03466	-1.246000	0.05919	-0.225000	0.07834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2159:0.4869:0.2028:0.0945	4.503	0.11285	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2372.33	49	chr5	181059695	.	G	A	2372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=1128;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.095;SOR=0.602	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1156	18	0	1	0
chr6	1313006	1313006	G	A	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.G302A:p.G101D	.	314	1191	17	0	0	17	0.00708629	.	.	.	2825663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	.	0.0039	0.00119808	0.0205	0.0095	0.0072	0.0008	0.0083	0.0285	0.0116	0.0163	0.0035963	556	154602	rs199626291	0.0088	0.0080	0.0089	0.0086	0.0099	0.0086	0.0086	0.0097	0.0097	0.0014	0.0023	0.0103	0.0001	0.0030	0.0022	0.0099	0.0066	0.0042	0.0051	0.0051	0.0056	0.0045	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0014	0.0095	0	0.0033	0	0.0087	0.0043	0.0043	0.181	0.21884	T	0.199	0.27679	T	0.561	0.38362	P	0.166	0.35067	B	0.939196	0.08366	N	0.949192	0.99999	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.39	0.13611	N	0.194	0.21319	-1.0414	0.16890	T	0.042	0.17952	T	10	0.004980266	0.00107	T	.	.	.	0.055	0.15663	.	.	0.300784259202	0.29686	0.26413867288485793	0.26326	.	.	0.856463909149	0.90585	D	0.08505	0.37416	T	-0.490179	0.00648	T	-0.47232	0.25267	T	0.00629917079943835	0.00070	T	0.279272	0.04852	T	0.041404124	0.06089	0.10650694	0.25625	0.041404124	0.06089	0.10650694	0.25624	-7.799	0.59692	D	.	.	0.128	0.27373	B	.	.	2.417411	0.31083	18.63	0.99637282409545935	0.76449	0.19537	0.20699	N	AEFBCI	0.044780	0.07248	N	-0.801798800985491	0.13264	0.6522096	-0.873670911872064	0.12720	0.655933	0.999999922865585	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.38	2.5	0.29355	2.253000	0.42859	2.496000	0.33006	-0.439000	0.05178	0.021000	0.19753	0.973000	0.29867	0.018000	0.11154	0.1253:0.0:0.8747:0.0	8.375	0.31598	966	0.07191	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003568	0.000000	0.005450	0.005917	0.000000	0.000000	0.000000	0.003817	0.05263	2893.83	43	chr6	1313006	.	G	A	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=874;ExcessHet=0.119;FS=2.789;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.687;SOR=1.003	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	17	0	2	0
chr6	2955546	2955546	-	C	exonic	SERPINB6	.	frameshift insertion	SERPINB6:NM_001271822:exon3:c.331dupG:p.E111Gfs*5,SERPINB6:NM_001271823:exon3:c.346dupG:p.E116Gfs*5,SERPINB6:NM_001271824:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001271825:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001297699:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001297700:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001374516:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001374517:exon3:c.157dupG:p.E53Gfs*5,SERPINB6:NM_004568:exon3:c.289dupG:p.E97Gfs*5,SERPINB6:NM_001195291:exon4:c.301dupG:p.E101Gfs*5,SERPINB6:NM_001374515:exon4:c.301dupG:p.E101Gfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs763807318	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1716.29	40	chr6	2955546	.	T	TC	1716.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.391;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.279;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1094	18	0	1	0
chr6	3264301	3264301	C	A	exonic	PSMG4	.	nonsynonymous SNV	PSMG4:NM_001128592:exon3:c.C343A:p.P115T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00369330037734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.366	0.16668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.52	0.16187	N	0.093	0.07262	-0.9716	0.36862	T	0.015	0.06138	T	8	0.06832984	0.09648	T	0.003693	0.08527	T	0.006	0.00375	0.205	0.12076	0.0138822411134	0.00435	0.05270914393658736	0.05212	.	.	0.212534114718	0.00923	T	.	.	.	-0.269474	0.11815	T	-0.624857	0.10808	T	0.0653288102644422	0.07980	T	0.457954	0.13172	T	.	.	.	.	.	.	.	.	-3.544	0.17053	T	.	.	0.062	0.01233	B	.	.	0.221842	0.06040	2.483	0.97373523471276302	0.33637	0.07670	0.13675	N	AEFDBCI	0.032906	0.03805	N	-1.09154541638437	0.06798	0.3139755	-1.1444254604309	0.06869	0.3321004	0.9999414903029	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.61	-0.258	0.12334	-0.753000	0.04897	-1.831000	0.04647	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5349:0.0:0.4651	6.322	0.20431	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1251.33	111	chr6	3264301	.	C	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.325;DP=1763;ExcessHet=0;FS=8.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.304;SOR=0.587	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	18	0	1	0
chr6	4037422	4037422	A	G	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon3:c.A1264G:p.S422G	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0069713136517	0.0020	0.00239617	0.0006	0.0057	0.0006	0	0	6.014e-05	0	0	0.0006015	93	154602	rs61733048	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0002	0.0065	0.0063	0.0073	0.0006	0	0	0	0.0023	5.847e-05	0.0008	4.642e-05	0.0019	0.0019	0.0019	0.0019	0.0066	0.0017	0.0016	0.0060	0.0057	0.0066	0	0.0004	0	0	0	0	7.35e-05	0.0005	0.0002	0.775	0.03335	T	0.439	0.13365	T	0.075	0.24198	B	0.037	0.23121	B	0.006891	0.31732	N	0.302300	0.993948	0.23618	N	0.345	0.11182	N	-0.29	0.67712	T	-0.34	0.12661	N	0.273	0.30914	-1.0528	0.13628	T	0.053	0.22307	T	10	0.0077193677	0.00175	T	0.006971	0.18458	T	0.035	0.08770	.	.	0.429154209284	0.42533	0.09609080818428002	0.09541	0.196112893007	0.21964	0.632108926773	0.57445	T	0.042845	0.26312	T	-0.502225	0.00556	T	-0.49102	0.23284	T	0.00278617213428532	0.00029	T	0.680832	0.28956	T	0.023531973	0.01101	0.025981518	0.00665	0.023531973	0.01101	0.025981518	0.00665	-4.352	0.28900	T	.	.	0.065	0.02012	B	.	.	1.572951	0.20139	14.61	0.9777549562762512	0.35900	0.85103	0.44209	D	AEFBI	0.180904	0.30822	N	-0.37801164143053	0.26254	1.431451	-0.200566870363906	0.31516	1.784364	0.999940616104235	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	3.9	0.44240	1.486000	0.35138	3.004000	0.35933	0.750000	0.87069	0.952000	0.33172	0.970000	0.29701	1.000000	0.97212	0.606:0.0:0.1828:0.2112	3.546	0.07384	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	34	chr6	4037422	.	A	G	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.078;DP=790;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.97;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1414	18	0	1	0
chr6	4069327	4069327	A	T	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.T896A:p.M299K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00383786041192	.	0.000399361	0.0002	0	0	0.0023	0	0	0	0.0001	0.0001552	24	154602	rs200626060	7.73e-05	7.73e-05	7.351e-05	8.113e-05	0.0023	6.533e-05	6.136e-05	0.0020	0.0018	0	0	0	0.0023	0	0	8.993e-07	9.935e-05	0.0002	9.195e-05	9.187e-05	0.0001	6.717e-05	0.0025	5.526e-05	4.363e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0002	0.003	0.68238	D	0.004	0.74150	D	0.589	0.39027	P	0.288	0.40614	B	0.145288	0.02918	N	1.553840	1	0.08975	N	1.995	0.54099	M	1.96	0.22270	T	-1.96	0.45404	N	0.213	0.23758	-1.0052	0.28397	T	0.018	0.07612	T	10	0.0073269606	0.00167	T	0.003838	0.08992	T	0.105	0.29889	.	.	0.0551355673512	0.04727	0.299055282247955	0.29818	0.0749973977164	0.08415	0.245693191886	0.03328	T	0.005883	0.05325	T	-0.480014	0.00739	T	-0.469067	0.25615	T	0.0558404591355056	0.06498	T	0.585041	0.21304	T	0.503267	0.67286	0.37359607	0.62544	0.503267	0.67287	0.37359607	0.62543	-2.931	0.09457	T	.	.	0.185	0.41387	B	.;.	.;.	1.243033	0.16388	12.51	0.7951182663541021	0.12775	0.02807	0.07532	N	AEFDHI	0.061582	0.11784	N	-0.929771108660479	0.10150	0.4837113	-1.06141361722162	0.08470	0.416646	0.999895294955888	0.45129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.29	-5.56	0.02328	0.062000	0.14264	-1.098000	0.06337	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.306:0.1344:0.4286:0.131	3.168	0.06150	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1915.33	37	chr6	4069327	.	A	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=990;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.529;SOR=0.672	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1929,0,1834	18	0	1	0
chr6	4069381	4069381	G	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.C842T:p.T281I	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0022	0.00499201	0.0009	0.0086	0.0003	0	0	0.0002	0.0022	0	0.0009444	146	154602	rs142918785	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0096	0.0093	0.0105	0.0005	3.827e-05	0	0	0.0036	8.903e-05	0.0012	4.637e-05	0.0025	0.0025	0.0029	0.0020	0.0082	0.0023	0.0022	0.0075	0.0072	0.0082	0	0.0009	0	0	0	0.0102	0.0002	0.0033	0	0.004	0.65419	D	0.004	0.74150	D	0.202	0.29746	B	0.064	0.27215	B	0.000568	0.43250	D	0.235841	0.999963	0.18878	N	0	0.06538	N	1.96	0.22270	T	-2.5	0.54382	D	0.178	0.19190	-1.0086	0.27354	T	0.010	0.03673	T	10	0.005345732	0.00117	T	.	.	.	0.152	0.39956	.	.	0.101711395817	0.09552	0.13148578197152905	0.13073	0.0421290730492	0.04534	0.322853773832	0.13853	T	0.02034	0.16033	T	-0.488878	0.00659	T	-0.469043	0.25620	T	0.0254730268723136	0.01335	T	0.637636	0.25136	T	0.11077683	0.26181	0.17467298	0.39880	0.11077683	0.26181	0.17467298	0.39880	-3.295	0.13673	T	.	.	0.187	0.40360	B	.;.	.;.	1.693159	0.21574	15.26	0.96026800925595757	0.28491	0.19554	0.20706	N	AEFDHI	0.087252	0.17691	N	-0.878246630375717	0.11361	0.5478677	-0.788896783181168	0.14768	0.7733314	0.999421350458261	0.39630	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.67	0.41236	0.288000	0.18695	1.643000	0.27803	-0.818000	0.02990	0.598000	0.27730	1.000000	0.68203	0.434000	0.27538	0.0:0.7454:0.1676:0.087	7.535	0.26877	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.015152	0.019022	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1698.33	37	chr6	4069381	.	G	A	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.806;DP=991;ExcessHet=0;FS=4.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.056;SOR=1.025	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	18	0	1	0
chr6	7246939	7246939	G	A	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon11:c.G4324A:p.E1442K,RREB1:NM_001168344:exon11:c.G4324A:p.E1442K,RREB1:NM_001003699:exon12:c.G4489A:p.E1497K	.	415	1092	15	0	0	15	0.00682128	.	.	.	3190554	RREB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0002	0.00579073	0.0103	0	0.0074	0	0	0.0010	0.0062	0.0194	0.0020698	320	154602	rs373051958	0.0015	0.0015	0.0010	0.0019	0.0188	0.0014	0.0014	0.0180	0.0177	0.0002	0.0004	0	5.514e-05	0	0.0090	0.0003	0.0023	0.0188	0.0011	0.0011	0.0009	0.0012	0.0205	0.0009	0.0009	0.0173	0.0161	4.815e-05	0	0.0008	0	0	0	0.0034	0.0006	0.0024	0.0205	0.096	0.44694	T	0.029	0.54541	D	0.077	0.41275	B	0.012	0.38212	B	.	.	.	.	0.98306	0.81001	D	1.7	0.43825	L	2.88	0.10871	T	-1.4	0.39887	N	0.35	0.43706	-0.9887	0.32928	T	0.013	0.04985	T	9	0.0053912997	0.00118	T	.	.	.	0.039	0.10176	.	.	0.256237801699	0.25221	0.17515588053605569	0.17434	0.0714395176202	0.08001	0.484914660454	0.36734	T	0.01258	0.11029	T	-0.480617	0.00733	T	-0.448869	0.27821	T	0.0278672327844155	0.01668	T	0.681532	0.33655	T	0.1287304	0.30087	0.11173538	0.26955	0.1287304	0.30087	0.11173538	0.26954	-5.319	0.40455	T	.	.	0.078	0.27998	B	.;.;.;.	.;.;.;.	2.188272	0.27896	17.62	0.97029246248228052	0.32059	0.90857	0.52392	D	AEFDBCI	0.158497	0.28416	N	-0.36711151368594	0.26648	1.455952	-0.362957140334632	0.26111	1.440183	0.999999822170376	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	4.97	4.09	0.47038	6.778000	0.74827	6.727000	0.56446	0.586000	0.30580	1.000000	0.71638	0.999000	0.35428	0.013000	0.09966	0.0:0.141:0.859:0.0	15.277	0.73450	714	0.56256	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007216	0.000000	0.002817	0.005848	0.000000	0.008929	0.006250	0.011364	0.05263	1324.81	35	chr6	7246939	.	G	A	1324.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.31;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	18	1	0	0
chr6	7373201	7373201	C	G	exonic	CAGE1	.	nonsynonymous SNV	CAGE1:NM_205864:exon4:c.G1210C:p.V404L,CAGE1:NM_001170692:exon5:c.G1618C:p.V540L,CAGE1:NM_001170693:exon5:c.G1618C:p.V540L	.	455	1056	9	2	0	13	0.00611765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0038	0.00279553	0.0052	0.0009	0.0085	0	0.0002	0.0074	0.0086	0.0017	0.0049741	769	154602	rs34744890	0.0055	0.0055	0.0055	0.0055	0.0132	0.0054	0.0053	0.0108	0.0099	0.0010	0.0085	0.0082	2.52e-05	0.0003	0.0132	0.0061	0.0059	0.0015	0.0048	0.0048	0.0048	0.0048	0.0139	0.0045	0.0044	0.0124	0.0118	0.0010	0.0011	0.0139	0.0063	0.0002	9.432e-05	0.0238	0.0063	0.0052	0.0004	0.408	0.13925	T	0.307	0.28958	T	0.058	0.34363	B	0.022	0.31755	B	0.248975	0.15551	N	0.578289	1	0.08975	N	1.435	0.35949	L	1.25	0.36512	T	-0.88	0.23808	N	0.132	0.12770	-0.9654	0.38132	T	0.017	0.07092	T	10	0.005548537	0.00123	T	.	.	.	0.016	0.02506	0.216	0.13643	0.263140351381	0.25927	0.1973684627281306	0.19653	0.409721348275	0.41785	0.381331920624	0.22446	T	0.006164	0.05598	T	-0.638911	0.00085	T	-0.679497	0.07014	T	0.00693095521163231	0.00079	T	0.672833	0.28129	T	0.0467648	0.07881	0.03068497	0.01555	0.0467648	0.07881	0.03068497	0.01555	-2.012	0.04060	T	.	.	0.273	0.52776	B	.;.;.;.;.;.	.;.;.;.;.;.	0.190578	0.05766	2.211	0.66229862542150475	0.07998	0.02412	0.06823	N	AEFBI	0.058212	0.10907	N	-1.02066073810805	0.08176	0.3824215	-1.05420071977499	0.08619	0.424702	4.11658886670138E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.38	0.564	0.16487	-0.438000	0.06975	-0.005000	0.13145	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.0:0.481:0.2602:0.2588	5.079	0.13980	668	0.61153	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018145	0.045455	0.019022	0.005848	0.000000	0.008621	0.024540	0.007576	0.02632	2568.33	60	chr6	7373201	.	C	G	2568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.739;DP=949;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.46;SOR=0.464	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr6	7405275	7405275	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon12:c.G811A:p.V271I,RIOK1:NM_031480:exon12:c.G1123A:p.V375I	.	425	1094	3	0	0	3	0.00136924	.	.	.	3409317	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0144562593385	0.0055	0.00279553	0.0045	0.0019	0.0046	0	0.0035	0.0066	0.0011	0.0008	0.0046765	723	154602	rs56067778	0.0062	0.0062	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0050	0.0068	0	0.0029	0.0026	0.0072	0.0050	0.0009	0.0044	0.0044	0.0047	0.0041	0.0070	0.0041	0.0040	0.0065	0.0063	0.0015	0	0.0056	0.0035	0	0.0019	0.0034	0.0070	0.0047	0.0008	0.036	0.43393	D	0.094	0.39645	T	0.767	0.43786	P	0.549	0.49194	P	0.000015	0.62929	N	0.113199	1	0.81001	D	1.255	0.31814	L	3.32	0.06214	T	-0.97	0.25770	N	0.282	0.31925	-0.9263	0.44673	T	0.013	0.05129	T	10	0.010382742	0.00231	T	0.014456	0.34591	T	0.071	0.20720	.	.	0.36453787251	0.36064	0.4071093323463725	0.40626	0.204602031451	0.22881	0.373666852713	0.21357	T	0.009266	0.08447	T	-0.517773	0.00453	T	-0.509699	0.21346	T	0.0348122710622711	0.02776	T	0.861414	0.55526	D	0.2554301	0.48577	0.1448719	0.34379	0.2554301	0.48577	0.1448719	0.34378	-8.541	0.64700	D	.	.	0.125	0.26388	B	.	.	4.211540	0.63633	24.6	0.99646313535507269	0.77005	0.99075	0.90859	D	AEFDBI	0.761235	0.69901	D	0.263892365592409	0.54329	3.598792	0.286121978011405	0.54728	3.636977	0.999966677685168	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.5	0.54382	7.387000	0.79051	9.758000	0.81499	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0771:0.0:0.9229:0.0	13.123	0.58752	663	0.61610	RIO kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	805.33	36	chr6	7405275	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.483;DP=695;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.411;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	18	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	38.54	34	chr6	7411419	.	G	C	38.54	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.888;DP=1585;ExcessHet=0;FS=159.624;InbreedingCoeff=-0.104;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.64;SOR=10.515	GT:AD:DP:GQ:PL	./.:73,0:73:0:0,0,1322	14	0	1	4
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H,RIOK1:NM_031480:exon16:c.G1556A:p.R519H	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.004076	0.008772	0.000000	0.000000	0.051829	0.011364	0.02632	1247.33	33	chr6	7414350	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=709;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.99;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1201	18	0	1	0
chr6	7585852	7585852	T	C	exonic	DSP	.	nonsynonymous SNV	DSP:NM_001008844:exon24:c.T6793C:p.F2265L,DSP:NM_001319034:exon24:c.T7261C:p.F2421L,DSP:NM_004415:exon24:c.T8590C:p.F2864L	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	910657	Cardiomyopathy|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_dysplasia_8|Woolly_hair-skin_fragility_syndrome|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.186	0.0448436694775	.	.	2.525e-05	0.0001	0	0	0	3.073e-05	0	0	1.94e-05	3	154602	rs764514210	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.248e-05	1.656e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	9.65e-05	1.715e-05	1.129e-05	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.033	0.53072	D	0.003	0.11197	B	0.01	0.14941	B	0.000015	0.62929	D	0.000000	0.950946	0.37717	D	1.87	0.49600	L	-0.47	0.73523	T	-2.2	0.51811	N	0.446	0.48411	-0.8646	0.50930	T	0.154	0.48464	T	10	0.19714859	0.35635	T	0.044844	0.61690	D	0.186	0.46104	0.149	0.05238	0.597203257499	0.59400	0.3919646509663837	0.39111	0.254362264465	0.28005	0.63508951664	0.57867	T	0.408976	0.76414	T	-0.127355	0.31924	T	-0.184045	0.56147	T	0.353158384561539	0.27142	T	0.728927	0.34859	T	0.40213922	0.60881	0.4115999	0.65386	0.40213922	0.60881	0.4115999	0.65386	-4.236	0.27270	T	0.64252395899098	0.71344	0.605	0.69090	P	.;.	.;.	3.187160	0.43288	21.7	0.99597006607891003	0.73983	0.94964	0.62946	D	AEFBCI	0.826876	0.74628	D	-0.159103166873739	0.34849	1.994393	-0.0418929306483803	0.37844	2.221307	0.993082658329407	0.33079	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.87	3.69	0.41483	3.386000	0.52232	4.248000	0.42743	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1362:0.0:0.1424:0.7214	7.899	0.28886	382	0.83637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5211.33	52	chr6	7585852	.	T	C	5211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=1243;ExcessHet=0;FS=1.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.645;SOR=0.619	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr6	7590403	7590403	A	T	exonic	SNRNP48	.	nonsynonymous SNV	SNRNP48:NM_152551:exon1:c.A146T:p.E49V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0761509728374	0.0016	0.000599042	0.0018	0.0004	0.0043	0	0.0040	0.0028	0	0	0.0009056	140	154602	rs199829988	0.0009	0.0009	0.0009	0.0009	0.0077	0.0008	0.0008	0.0057	0.0050	0.0004	0.0039	0.0120	0	9.724e-05	0.0077	0.0006	0.0028	7.916e-05	0.0012	0.0012	0.0013	0.0010	0.0024	0.0011	0.0010	0.0017	0.0015	0.0006	0	0.0024	0.0121	0	9.443e-05	0.0103	0.0009	0.0076	0.0002	0.098	0.30800	T	0.095	0.39492	T	0.0	0.02946	B	0.0	0.01387	B	0.838739	0.06986	N	1.084740	0.997249	0.22736	N	1.04	0.26193	L	1.45	0.32482	T	-1.15	0.29525	N	0.247	0.27910	-0.9699	0.37220	T	0.016	0.06664	T	10	0.0040982366	0.00080	T	0.076151	0.72462	D	0.061	0.17616	.	.	0.154104182512	0.14974	0.3610805585410393	0.36022	0.361154789686	0.37775	0.450569272041	0.32022	T	0.005056	0.04483	T	-0.559215	0.00257	T	-0.578156	0.14709	T	0.0242827380777515	0.01181	T	0.481352	0.14557	T	0.0779794	0.17732	0.0859208	0.19871	0.0779794	0.17732	0.0859208	0.19871	-5.426	0.41169	T	.	.	0.094	0.14385	B	.	.	1.421027	0.18380	13.70	0.92499300237332482	0.21936	0.44376	0.27305	N	ALL	0.047231	0.07931	N	-0.941817178677353	0.09877	0.4694603	-0.939735511924712	0.11162	0.5669589	0.999999999568	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	-4.49	0.03257	-0.459000	0.06805	-1.512000	0.05273	0.756000	0.94297	0.359000	0.25834	0.000000	0.08366	0.997000	0.79791	0.2729:0.5211:0.0792:0.1268	4.840	0.12848	425	0.81160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019628	0.091398	0.023416	0.000000	0.000000	0.026786	0.000000	0.003817	0.02632	741.33	26	chr6	7590403	.	A	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.617;DP=770;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-0.925;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr6	7727061	7727063	GCC	-	exonic	BMP6	.	nonframeshift deletion	BMP6:NM_001718:exon1:c.106_108del:p.A39del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281435575	1.333e-05	0.0004	9.064e-06	1.805e-05	4.496e-05	7.73e-06	6.05e-06	5.61e-06	4.09e-06	0	0	8.146e-05	4.496e-05	8.62e-05	0	1.11e-05	0	0	0	6.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	40.33	19	chr6	7727060	.	GGCC	G	40.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=301;ExcessHet=0;FS=0;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=0.97;SOR=0.223	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,839	18	0	1	0
chr6	7727292	7727292	C	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C337G:p.Q113E	.	413	1101	5	0	3	8	0.00226552	.	.	.	1858503	BMP6-related_disorder|not_provided|Iron_overload,_susceptibility_to	.|MedGen:C3661900|MONDO:MONDO:0859316,MedGen:C5703292,OMIM:620121	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0066	0.0121805	0.0049	0.0442	0.0046	0.0004	0	0.0030	0.0064	0.0002	0.0034411	532	154602	rs7745236	0.0020	0.0019	0.0021	0.0018	0.0302	0.0019	0.0019	0.0286	0.0280	0.0302	0.0050	0.0122	0.0001	4.187e-05	0.0144	0.0009	0.0047	0.0002	0.0099	0.0099	0.0104	0.0093	0.0303	0.0095	0.0093	0.0289	0.0283	0.0303	0	0.0067	0.0104	0	9.464e-05	0.0137	0.0010	0.0142	0.0002	0.392	0.10766	T	0.175	0.29945	T	0.018	0.17786	B	0.006	0.12133	B	.	.	.	.	0.995511	0.23271	N	1.1	0.28011	L	-0.62	0.71895	T	-0.04	0.07590	N	0.29	0.32812	-1.0224	0.22932	T	0.072	0.29387	T	8	0.0046218634	0.00096	T	.	.	.	0.036	0.09122	.	.	0.489451222937	0.48578	0.26530379879769506	0.26443	0.173319407104	0.19520	0.642553687096	0.58927	T	0.224622	0.58911	T	-0.479644	0.00743	T	-0.433889	0.29495	T	0.00311213079676517	0.00033	T	0.329367	0.06881	T	0.18643208	0.40052	0.24644403	0.50154	0.18643208	0.40051	0.24644403	0.50153	-4.19	0.26607	T	.	.	0.069	0.03197	B	.	.	0.677641	0.10460	7.179	0.563980882534873	0.05544	0.49930	0.28546	N	AEFDBCI	0.059078	0.11130	N	-0.839041400338733	0.12321	0.5998446	-0.826885783615199	0.13845	0.7203773	0.999999896999732	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	0.7	0.7	0.17258	1.145000	0.31189	-0.128000	0.11649	0.450000	0.21304	0.993000	0.37899	0.024000	0.20971	0.499000	0.28994	.	.	.	888	0.27761	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023541	0.075269	0.032787	0.008824	0.000000	0.034483	0.000000	0.000000	0.02632	1369.33	33	chr6	7727292	.	C	G	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.416;DP=740;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.658;SOR=0.581	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,995	18	0	1	0
chr6	7883235	7883235	C	T	exonic	TXNDC5	.	nonsynonymous SNV	TXNDC5:NM_001145549:exon10:c.G884A:p.R295Q,TXNDC5:NM_030810:exon10:c.G1208A:p.R403Q	.	431	1077	14	0	0	14	0.00645756	.	.	.	717999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.197	.	0.0090	0.00359425	0.0072	0.0010	0.0052	0	0.0060	0.0107	0.0033	0.0028	0.0075355	1165	154602	rs111331197	0.0093	0.0093	0.0096	0.0090	0.0107	0.0092	0.0091	0.0106	0.0105	0.0013	0.0068	0.0068	5.038e-05	0.0051	0.0024	0.0107	0.0090	0.0032	0.0068	0.0068	0.0072	0.0064	0.0109	0.0064	0.0063	0.0102	0.0100	0.0020	0	0.0066	0.0066	0	0.0051	0.0068	0.0109	0.0085	0.0027	0.068	0.57480	T	0.102	0.38450	T	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.050224	0.999998	0.58761	D	0.845	0.21182	L	1.86	0.24285	T	-2.36	0.53736	N	0.245	0.45709	-1.1483	0.01077	T	0.095	0.35765	T	10	0.008690864	0.00197	T	.	.	.	0.197	0.47942	.	.	0.345405024496	0.34151	0.8802243070160694	0.87990	0.591792601973	0.54603	0.500492036343	0.38897	T	0.101339	0.40801	T	-0.447204	0.01173	T	-0.404766	0.32830	T	0.0356140735855132	0.02913	T	0.957954	0.85028	D	0.73061836	0.79758	0.49466294	0.70773	0.73061836	0.79760	0.49466294	0.70774	-10.033	0.74109	D	.	.	0.088	0.11893	B	.;.	.;.	4.330171	0.66345	24.9	0.99941253402788433	0.99797	0.88781	0.48875	D	AEFBHCI	0.617896	0.60390	D	0.532522745516262	0.69025	5.298757	0.578855270020047	0.73427	5.968526	0.999999975855396	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.8	5.8	0.92081	3.975000	0.56567	5.892000	0.50774	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.712000	0.34516	0.0:1.0:0.0:0.0	20.063	0.97692	766	0.49742	Thioredoxin domain|Thioredoxin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1112.33	35	chr6	7883235	.	C	T	1112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=722;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.046;SOR=1.003	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056485	0.059322	0.000000	0.051724	0.100000	0.000000	0.057692	0.057692	0.05263	30.46	20	chr6	7910698	.	CCAG	C	30.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=414;ExcessHet=0.119;FS=2.639;InbreedingCoeff=-0.0604;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.27;SOR=1.561	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,495	17	0	2	0
chr6	8102499	8102499	G	T	exonic	EEF1E1	.	stopgain	EEF1E1:NM_001135650:exon1:c.C23A:p.S8X,EEF1E1:NM_004280:exon1:c.C23A:p.S8X	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.990796	0.07900	N	1.003610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367566	0.87843	D	0.290207	0.87688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.573646	0.95424	35	0.98329262862313482	0.40319	0.06298	0.12292	N	ALL	0.069767	0.13823	N	0.164231769225663	0.49489	3.148594	-0.206728342419082	0.31294	1.769671	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.9	-0.83	0.10247	-0.254000	0.08801	0.435000	0.18365	0.676000	0.76740	0.009000	0.18154	0.071000	0.22219	0.262000	0.23568	0.2835:0.2054:0.2727:0.2384	0.202	0.00136	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	39	chr6	8102499	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.487;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.595;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	18	0	1	0
chr6	8413679	8413682	AACA	-	exonic	SLC35B3	.	stopgain	SLC35B3:NM_001370477:exon9:c.884_887del:p.L295*,SLC35B3:NM_001370478:exon10:c.977_980del:p.L326*,SLC35B3:NM_001370479:exon10:c.977_980del:p.L326*,SLC35B3:NM_001142540:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_001142541:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_001370476:exon11:c.1073_1076del:p.L358*,SLC35B3:NM_015948:exon11:c.1073_1076del:p.L358*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs772148642	2.407e-05	2.327e-05	8.46e-06	3.982e-05	0.0004	1.733e-05	1.529e-05	0.0003	0.0002	0	0	0	0	0	0	1.858e-06	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	541.29	36	chr6	8413678	.	TAACA	T	541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.154;SOR=0.892	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	18	0	1	0
chr6	10410005	10410005	C	T	exonic	TFAP2A	.	nonsynonymous SNV	TFAP2A:NM_001032280:exon2:c.G358A:p.D120N,TFAP2A:NM_001042425:exon2:c.G364A:p.D122N,TFAP2A:NM_001372066:exon2:c.G382A:p.D128N	Branchiooculofacial syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.116736352436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.013	0.74150	D	0.995	0.67487	D	0.722	0.54942	P	0.000005	0.62929	D	0.103855	1	0.81001	D	1.15	0.29295	L	-2.31	0.87750	D	-2.51	0.65056	D	0.492	0.53708	0.388	0.88919	D	0.637	0.87285	D	10	0.5954998	0.66618	D	0.116736	0.79631	D	0.512	0.79094	0.317	0.29419	0.876139793726	0.87493	.	.	.	.	0.76782977581	0.77100	T	0.761502	0.93543	D	0.0452068	0.57724	T	-0.17284	0.57184	T	0.977358818054199	0.71804	D	0.978802	0.93758	D	0.44551134	0.63756	0.3963337	0.64277	0.44551134	0.63757	0.3963337	0.64277	-9.953	0.73630	D	.	.	0.591	0.74278	P	.;.;.;.;.;.	.;.;.;.;.;.	4.925755	0.81165	27.5	0.99900499489485561	0.97275	0.99409	0.95660	D	AEFDGBHCI	0.969823	0.99217	D	0.553439665998643	0.70292	5.480164	0.572696386844074	0.72991	5.897665	1.0	0.98316	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.530356	0.10902	0	.	.	4.78	4.78	0.60666	7.900000	0.86025	7.662000	0.64290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.393	0.83381	716	0.55970	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1856.33	33	chr6	10410005	.	C	T	1856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=761;ExcessHet=0;FS=4.115;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.748;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1216	18	0	1	0
chr6	10704576	10704576	T	C	exonic	PAK1IP1	.	nonsynonymous SNV	PAK1IP1:NM_017906:exon6:c.T566C:p.I189T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0219371572122	.	0.000199681	1.143e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs141123017	2.072e-06	2.736e-06	1.376e-06	2.776e-06	3.013e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.013e-05	0	0	0	0	0	1.818e-06	0	0	6.565e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.923	0.51194	P	0.461	0.46460	P	0.001846	0.37840	N	0.311477	0.999959	0.52396	D	2.56	0.74772	M	1.01	0.41058	T	-3.76	0.71276	D	0.756	0.75466	-0.8695	0.50567	T	0.109	0.39320	T	10	0.66603446	0.70432	D	0.021937	0.44774	T	0.367	0.68670	.	.	0.709778432931	0.70724	0.6063913216262832	0.60570	0.376295101703	0.39064	0.390729129314	0.23772	T	0.206555	0.56593	T	0.0859321	0.62727	D	-0.114341	0.62263	T	0.893702566623688	0.54497	D	.	.	.	0.30949745	0.53743	0.39192316	0.63950	0.30949745	0.53743	0.39192316	0.63950	-8.733	0.65962	D	.	.	0.316	0.54220	B	.	.	4.421211	0.68481	25.2	0.99824686835750354	0.90677	0.98747	0.86334	D	AEFBI	0.705986	0.66119	D	0.606321268879061	0.73575	5.988395	0.627635468518347	0.76952	6.587274	0.999968998717375	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.905000	0.75535	7.767000	0.68400	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.843	0.62947	827	0.39843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1377.33	34	chr6	10704576	.	T	C	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=740;ExcessHet=0;FS=6.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.76;SOR=0.267	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	18	0	1	0
chr6	10775364	10775364	C	T	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon11:c.G1459A:p.V487I,MAK:NM_001242385:exon12:c.G1561A:p.V521I,MAK:NM_001242957:exon12:c.G1561A:p.V521I,MAK:NM_005906:exon12:c.G1561A:p.V521I	Retinitis pigmentosa 62, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1434650	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.00715698386387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990185904	1.984e-05	2.052e-05	2.451e-05	1.513e-05	0.0002	1.392e-05	1.204e-05	1.46e-05	1.227e-05	0	0	0	0	0	0.0002	2.159e-05	3.313e-05	2.319e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.328783	0.14149	N	0.692665	1	0.08975	N	-0.97	0.01230	N	-0.58	0.71425	T	0.1	0.05810	N	0.051	0.07949	-1.0200	0.23715	T	0.024	0.10013	T	10	0.039702535	0.02481	T	0.007157	0.18979	T	0.058	0.16647	0.266	0.21261	0.319686207203	0.31575	0.04049822996762733	0.03995	0.130433540118	0.14714	0.233334347606	0.02224	T	0.035345	0.23683	T	-0.304069	0.08281	T	-0.67455	0.07319	T	0.065473040526976	0.08000	T	0.210379	0.04152	T	0.018360581	0.00357	0.02244526	0.00269	0.018360581	0.00357	0.02244526	0.00269	-4.379	0.29271	T	0.06499045237221991	0.02110	0.063	0.07554	B	.;.;.;.	.;.;.;.	-1.230297	0.00501	0.011	0.66557213821082306	0.08094	0.00482	0.02293	N	AEFBI	0.031554	0.03400	N	-1.80147202763025	0.00541	0.02331875	-1.75988964788968	0.00896	0.04008543	5.77432237052514E-4	0.07363	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-4.17	0.03595	-1.126000	0.03365	-0.750000	0.07581	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2068:0.264:0.1062:0.4229	1.289	0.01932	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1289.33	35	chr6	10775364	.	C	T	1289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.789;DP=803;ExcessHet=0;FS=1.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.209;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1226	18	0	1	0
chr6	10775400	10775400	A	G	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon11:c.T1423C:p.W475R,MAK:NM_001242385:exon12:c.T1525C:p.W509R,MAK:NM_001242957:exon12:c.T1525C:p.W509R,MAK:NM_005906:exon12:c.T1525C:p.W509R	Retinitis pigmentosa 62, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1043864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.564	0.0823915026507	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs779951600	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0010	1.111e-05	9.34e-06	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	5.396e-06	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.114	0.40747	T	0.97	0.56973	D	0.769	0.56777	P	0.000007	0.62929	D	0.117593	0.999598	0.81001	D	1.7	0.43825	L	-0.96	0.75553	T	-4.54	0.78472	D	0.872	0.86941	-0.1264	0.79485	T	0.438	0.77720	T	10	0.8181127	0.81034	D	0.082392	0.73890	D	0.564	0.82175	0.538	0.64874	0.922944265807	0.92215	0.5880204724605063	0.58732	0.650542140705	0.58328	0.604422211647	0.53529	T	0.154501	0.49582	T	0.100395	0.64334	D	0.109088	0.77513	D	0.295439061618627	0.24815	T	0.727127	0.34152	T	0.55842584	0.70422	0.49969977	0.71075	0.55842584	0.70423	0.49969977	0.71075	-2.186	0.03973	T	0.2644461659488616	0.35664	0.420	0.73633	A	.;.;.;.	.;.;.;.	3.706222	0.52884	23.3	0.98241288556274387	0.39485	0.93800	0.59227	D	AEFBI	0.528092	0.54977	D	0.543799659990124	0.69705	5.395122	0.507695080320028	0.68508	5.229627	0.929830660104292	0.26984	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.17	6.17	0.99707	5.535000	0.66885	11.046000	0.85237	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	1.0:0.0:0.0:0.0	15.052	0.71546	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1057.33	35	chr6	10775400	.	A	G	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.719;DP=807;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.738;SOR=0.866	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1226	18	0	1	0
chr6	10935094	10935094	G	A	exonic	SYCP2L	.	nonsynonymous SNV	SYCP2L:NM_001040274:exon21:c.G1720A:p.E574K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00190457744456	0.0031	0.000998403	0.0016	0.0027	0.0004	0	0.0015	0.0022	0.0034	0	0.00152	235	154602	rs139064836	0.0014	0.0014	0.0015	0.0014	0.0026	0.0014	0.0014	0.0021	0.0020	0.0026	0.0003	3.832e-05	0	0.0019	0	0.0016	0.0012	4.679e-05	0.0020	0.0020	0.0020	0.0019	0.0033	0.0018	0.0017	0.0028	0.0026	0.0033	0	0.0005	0	0	0.0020	0	0.0020	0.0009	0	0.493	0.07920	T	0.558	0.09236	T	0.001	0.07471	B	0.001	0.04355	B	0.830896	0.06941	N	1.080420	1	0.08975	N	-0.895	0.01383	N	2.11	0.19860	T	0.68	0.02228	N	0.078	0.05287	-0.9374	0.43025	T	0.006	0.02018	T	10	0.0065694153	0.00149	T	0.001905	0.03351	T	0.043	0.11576	.	.	0.0138822411134	0.00435	0.09647679650925209	0.09579	0.137419240527	0.15494	0.240717470646	0.02855	T	9.02E-4	0.00463	T	-0.687191	0.00043	T	-0.760717	0.03087	T	0.0036025822757857	0.00038	T	0.262274	0.04237	T	0.036689643	0.04563	0.043675374	0.05487	0.036689643	0.04562	0.043675374	0.05487	-4.379	0.29271	T	.	.	0.057	0.00876	B	.;.	.;.	0.692336	0.10608	7.313	0.53877969908757539	0.05026	0.00017	0.00201	N	AEFI	0.016463	0.00371	N	-1.49118602712578	0.01912	0.08390092	-1.39271329410161	0.03329	0.1550673	3.75328935713141E-5	0.03775	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.37	2.96	0.33383	1.029000	0.29747	0.863000	0.22246	-0.529000	0.04963	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.8277:0.0:0.1723:0.0	8.838	0.34282	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1477.33	35	chr6	10935094	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.71;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	18	0	1	0
chr6	11190191	11190191	C	T	exonic	NEDD9	.	nonsynonymous SNV	NEDD9:NM_001271033:exon4:c.G1231A:p.G411S,NEDD9:NM_006403:exon5:c.G1678A:p.G560S,NEDD9:NM_001142393:exon6:c.G1678A:p.G560S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0113912724747	7.7e-05	0.000998403	0.0007	0	0.0002	0	0	0	0	0.0053	0.0006209	96	154602	rs374506429	0.0004	0.0004	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	8.961e-05	0.0002	0	5.038e-05	0	0.0002	1.259e-05	0.0004	0.0056	0.0002	0.0002	6.424e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.406e-05	0	6.536e-05	0	0	0	0	0	0	0.0052	0.304	0.14303	T	0.633	0.15794	T	0.128	0.27003	B	0.025	0.20508	B	0.034548	0.24756	N	0.475522	1	0.08975	N	1.1	0.28011	L	1.24	0.36691	T	0.68	0.02228	N	0.111	0.10483	-1.0964	0.04556	T	0.020	0.08407	T	10	0.005030334	0.00108	T	0.011391	0.28966	T	0.097	0.27909	.	.	0.352914559346	0.34901	0.13273230846907877	0.13197	0.212696024126	0.23774	0.277657389641	0.07168	T	0.107556	0.41986	T	-0.512733	0.00484	T	-0.508191	0.21501	T	0.035973593340295	0.02976	T	0.661834	0.27067	T	0.04205772	0.06308	0.047362603	0.06805	0.04205772	0.06307	0.047362603	0.06804	-2.776	0.07964	T	.	.	0.076	0.07985	B	.;.;.	.;.;.	1.381563	0.17928	13.45	0.9227625737172197	0.21662	0.49681	0.28489	N	AEFBCI	0.131366	0.25028	N	-0.732667805657836	0.15108	0.7585338	-0.606925201771191	0.19315	1.035722	0.999999987241925	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.7	5.7	0.88690	1.411000	0.34311	0.247000	0.16380	-0.176000	0.10722	0.004000	0.16614	0.002000	0.18203	0.087000	0.17632	0.1454:0.8546:0.0:0.0	14.653	0.68420	767	0.49651	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2041.33	35	chr6	11190191	.	C	T	2041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=841;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.379;SOR=0.441	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1603	18	0	1	0
chr6	12120954	12120954	G	A	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.G1159A:p.V387I	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00851755685903	8.1e-05	.	4.143e-05	0	0	0.0002	0	4.498e-05	0	0	3.23e-05	5	154602	rs370383342	3.694e-05	3.694e-05	4.084e-05	3.3e-05	0.0002	2.894e-05	2.592e-05	8.198e-05	5.784e-05	5.974e-05	0	0	0.0002	0	0	3.687e-05	6.623e-05	0	6.567e-05	7.218e-05	3.855e-05	9.403e-05	0.0002	3.515e-05	2.615e-05	2.846e-05	1.858e-05	2.407e-05	0	6.536e-05	0	0.0002	0	0	7.35e-05	0.0005	0.0002	0.161	0.23631	T	0.349	0.17531	T	.	.	.	.	.	.	0.007816	0.31183	N	0.000000	0.910121	0.36389	D	.	.	.	2.94	0.09728	T	-0.43	0.14390	N	0.161	0.16864	-1.0015	0.29488	T	0.016	0.06473	T	9	0.11310828	0.21238	T	0.008518	0.22532	T	0.144	0.38394	.	.	0.402048819238	0.39823	0.14147814097534672	0.14070	0.295431489209	0.31946	0.33338791132	0.15445	T	.	.	.	-0.334448	0.05782	T	-0.453759	0.27282	T	0.122515944586576	0.14674	T	0.880812	0.59928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	3.114264	0.42023	21.5	0.99278329477558347	0.57799	0.95648	0.65567	D	AEFBCI	0.315408	0.41999	N	0.301057039900993	0.56203	3.784685	0.361428203310129	0.59198	4.095809	0.999999971554693	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	5.499000	0.66654	2.647000	0.33790	0.676000	0.76740	0.998000	0.41325	0.993000	0.31925	0.995000	0.73285	0.0:0.0:1.0:0.0	18.746	0.91756	496	0.76301	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3004.33	200	chr6	12120954	.	G	A	3004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.76;DP=2016;ExcessHet=0;FS=2.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.594;SOR=0.516	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr6	13205893	13205893	G	C	exonic	PHACTR1	.	nonsynonymous SNV	PHACTR1:NM_001322311:exon5:c.G467C:p.C156S,PHACTR1:NM_001322312:exon5:c.G467C:p.C156S,PHACTR1:NM_001374583:exon5:c.G467C:p.C156S,PHACTR1:NM_001322313:exon6:c.G674C:p.C225S,PHACTR1:NM_001322314:exon6:c.G953C:p.C318S,PHACTR1:NM_001322308:exon7:c.G743C:p.C248S,PHACTR1:NM_001322309:exon7:c.G743C:p.C248S,PHACTR1:NM_001322310:exon7:c.G950C:p.C317S,PHACTR1:NM_001374581:exon7:c.G743C:p.C248S,PHACTR1:NM_001242648:exon8:c.G743C:p.C248S,PHACTR1:NM_030948:exon8:c.G743C:p.C248S,PHACTR1:NM_001374582:exon9:c.G950C:p.C317S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00738133335627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450751464	6.844e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12070	T	0.888	0.03152	T	0.01	0.17573	B	0.008	0.19346	B	0.035735	0.24608	N	0.456970	1	0.81001	D	1.275	0.32135	L	1.54	0.31470	T	0.59	0.04533	N	0.144	0.21839	-1.0022	0.29284	T	0.101	0.37316	T	10	0.14630401	0.27739	T	0.007381	0.19576	T	0.072	0.21020	0.313	0.28774	0.263709349026	0.25991	0.5803632402285628	0.57965	.	.	0.618790566921	0.55558	T	0.014128	0.12084	T	-0.151676	0.28048	T	-0.455649	0.27075	T	0.465636640787125	0.31371	T	.	.	.	0.39722255	0.60540	0.38447043	0.63387	0.39722255	0.60540	0.38447043	0.63387	-1.017	0.01102	T	.	.	0.555	0.71257	A	.;.	.;.	3.205032	0.43602	21.8	0.94854487253388853	0.25659	0.91596	0.53859	D	AEFDBI	0.623033	0.60713	D	0.219599350166109	0.52151	3.391009	0.343288584655982	0.58105	3.979135	0.257398736282117	0.18750	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	4.449000	0.59775	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.722	0.88262	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1871.33	36	chr6	13205893	.	G	C	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=767;ExcessHet=0;FS=2.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.3;SOR=0.49	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	18	0	1	0
chr6	13364750	13364750	T	C	exonic	GFOD1	.	nonsynonymous SNV	GFOD1:NM_001242628:exon2:c.A857G:p.Y286C,GFOD1:NM_001242630:exon2:c.A857G:p.Y286C,GFOD1:NM_018988:exon2:c.A1166G:p.Y389C	.	.	.	.	.	.	.	.	.	.	.	2287519	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0304506961216	.	.	0.0002	0	0	0	0	3.08e-05	0	0.0011	0.0001229	19	154602	rs758595705	5.961e-05	5.951e-05	2.999e-05	8.955e-05	0.0009	4.891e-05	4.569e-05	0.0008	0.0007	0	0	0	0	0	0	5.4e-06	3.315e-05	0.0009	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.005	0.65419	D	0.034	0.53788	D	0.013	0.16609	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	0.78	0.49358	T	-0.56	0.17003	N	0.511	0.54234	-1.0496	0.14509	T	0.059	0.24539	T	10	0.09181565	0.16116	T	0.030451	0.52756	D	0.180	0.45073	0.258	0.20002	0.741142980358	0.73881	0.8584013073889615	0.85803	2.12076249528	0.95014	0.817500531673	0.84645	D	0.036362	0.24073	T	-0.269582	0.11803	T	-0.21636	0.53087	T	0.161578697578371	0.17987	T	0.915608	0.69895	D	0.34864354	0.56961	0.15121296	0.35629	0.34864354	0.56961	0.15121296	0.35629	-2.855	0.08701	T	.	.	0.083	0.23041	B	.;.;.	.;.;.	4.476073	0.69796	25.4	0.99699780130055793	0.80522	0.94126	0.60191	D	AEFDBI	0.731909	0.67883	D	-0.0179922535111003	0.41041	2.447863	0.168718057336977	0.48142	3.034209	0.999999941298073	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	6.239000	0.72314	7.797000	0.69042	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	14.276	0.65732	866	0.32446	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	708.33	37	chr6	13364750	.	T	C	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=704;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.022;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	18	0	1	0
chr6	13711378	13711378	G	A	exonic	RANBP9	.	nonsynonymous SNV	RANBP9:NM_005493:exon1:c.C128T:p.A43V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.247496334439	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315723814	9.807e-07	1.368e-06	0	2.082e-06	4.86e-05	0	0	.	.	4.86e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.416	0.14284	T	0.335	0.33330	B	0.03	0.21741	B	.	.	.	.	0.997129	0.22782	N	0.345	0.11182	N	-1.25	0.79072	T	-0.7	0.19933	N	0.049	0.02088	-1.0170	0.24690	T	0.093	0.35390	T	9	0.10407689	0.19167	T	0.247496	0.88971	D	0.139	0.37390	0.264	0.20946	0.421947164513	0.41814	0.11578313958819043	0.11506	0.825195395317	0.67364	0.606503903866	0.53823	T	0.143175	0.47916	T	-0.085843	0.38758	T	-0.361084	0.37928	T	0.155327558517456	0.17520	T	0.358764	0.08201	T	0.08859506	0.20673	0.21705815	0.46357	0.08859506	0.20673	0.21705815	0.46356	-5.547	0.42306	T	.	.	0.119	0.24329	B	.	.	2.612157	0.33929	19.48	0.98712739112615899	0.45083	0.02978	0.07827	N	AEFDBCIJ	0.060421	0.11481	N	-0.770211207797264	0.14091	0.6991409	-0.760117262345726	0.15474	0.8140061	0.999999953242843	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.171818	0.04044	3	0.492483	0.08430	1	.	.	1.66	1.66	0.23081	0.130000	0.15676	5.090000	0.47345	0.212000	0.17994	0.000000	0.06391	1.000000	0.68203	0.061000	0.16044	0.0:0.0:1.0:0.0	8.433	0.31930	785	0.46916	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	87.51	6	chr6	13711378	.	G	A	87.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.431;SOR=0.368	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,43	18	0	1	0
chr6	13800370	13800370	C	T	exonic	MCUR1	.	nonsynonymous SNV	MCUR1:NM_001031713:exon5:c.G754A:p.E252K	.	865	656	1	0	0	1	0.000761615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0180792057067	.	0.000199681	0.0001	0	0	0	0	0	0.0015	0.0009	0.0001035	16	154602	rs556879787	5.382e-05	6.159e-05	4.233e-05	6.54e-05	0.0008	4.408e-05	4.025e-05	0.0006	0.0006	0	0	0	0	0	0.0002	5.553e-06	0.0001	0.0008	7.513e-05	7.247e-05	6.647e-05	8.429e-05	0.0014	4.124e-05	3.239e-05	0.0006	0.0004	2.429e-05	0	0	0	0	0	0	6.098e-05	0	0.0014	0.077	0.34095	T	0.052	0.47581	T	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.050117	0.999977	0.53665	D	2.625	0.76847	M	0.89	0.45636	T	-3.39	0.66896	D	0.65	0.66101	-0.7524	0.57810	T	0.195	0.54942	T	10	0.41810092	0.56679	T	0.018079	0.40021	T	0.303	0.62400	.	.	0.661077055835	0.65823	0.6705365522777526	0.66991	0.291315313179	0.31540	0.569690287113	0.48634	T	0.162976	0.50785	T	-0.0867255	0.38614	T	0.0183758	0.71525	D	0.840085566043854	0.49334	D	0.928807	0.73814	D	0.30865526	0.53669	0.37701806	0.62811	0.30865526	0.53669	0.37701806	0.62811	-11.373	0.81663	D	.	.	0.356	0.56971	A	.	.	5.139306	0.86031	28.8	0.99875118111124794	0.95244	0.92003	0.54730	D	AEFGBI	0.466206	0.51395	N	0.680668914741826	0.78365	6.857003	0.651244041392534	0.78701	6.929914	0.99038582887172	0.32135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	3.156000	0.50406	4.774000	0.44793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.931	0.79446	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	407.33	16	chr6	13800370	.	C	T	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=557;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.489;SOR=0.473	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,831	18	0	1	0
chr6	15487313	15487313	A	G	exonic	JARID2	.	nonsynonymous SNV	JARID2:NM_001267040:exon6:c.A161G:p.N54S,JARID2:NM_004973:exon6:c.A677G:p.N226S	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00455032657598	.	.	8.721e-05	0.0001	0.0003	0.0001	0	6.382e-05	0	6.244e-05	6.47e-05	10	154602	rs778012192	4.995e-05	4.994e-05	3.813e-05	6.189e-05	0.0003	4.06e-05	3.735e-05	0.0002	0.0001	0.0003	6.711e-05	3.827e-05	0.0002	1.872e-05	0	3.778e-05	3.313e-05	5.798e-05	0.0001	0.0001	0.0002	9.415e-05	0.0004	9.15e-05	7.705e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.002	0.72154	D	0.048	0.92824	D	0.518	0.37483	P	0.079	0.28749	B	0.000000	0.84330	D	0.044932	0.99992	0.51308	D	2.255	0.64187	M	1.38	0.34050	T	-0.71	0.23372	N	0.332	0.42639	-1.1197	0.02350	T	0.040	0.17362	T	10	0.1451588	0.27538	T	0.00455	0.11220	T	0.062	0.17934	.	.	0.488306150274	0.48463	0.26150273163616716	0.26063	0.0975362564077	0.11016	0.592936754227	0.51909	T	0.171242	0.51928	T	-0.347683	0.04874	T	-0.431222	0.29795	T	0.0562689546188764	0.06569	T	0.887511	0.61533	D	0.27879682	0.50932	0.26560703	0.52395	0.27879682	0.50932	0.26560703	0.52394	-4.252	0.27499	T	.	.	0.088	0.32661	B	.;.	.;.	3.273193	0.44819	22.0	0.99646165726463898	0.77005	0.92811	0.56603	D	AEFBCI	0.585430	0.58386	D	0.179944212913219	0.50236	3.215647	0.30154876379097	0.55631	3.725965	0.999999996479895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	4.318000	0.58981	9.216000	0.79266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.742	0.77666	810	0.42761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1590.33	35	chr6	15487313	.	A	G	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=722;ExcessHet=0;FS=1.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.538;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	18	0	1	0
chr6	15520192	15520192	G	A	exonic	JARID2	.	nonsynonymous SNV	JARID2:NM_001267040:exon18:c.G3166A:p.V1056M,JARID2:NM_004973:exon18:c.G3682A:p.V1228M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0282740554091	0.0002	.	6.594e-05	0	8.639e-05	0.0001	0	7.498e-05	0	6.063e-05	5.17e-05	8	154602	rs144053937	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	8.968e-05	0.0002	0	0	0	0	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.171e-05	6.727e-05	0.0001	0.0001	2.414e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.012	0.64786	D	0.669	0.41149	P	0.046	0.24676	B	0.000092	0.51296	D	0.132040	0.999854	0.49910	D	1.095	0.27400	L	-2.38	0.88298	D	-0.58	0.22294	N	0.512	0.57263	-0.2966	0.75079	T	0.291	0.66269	T	10	0.28945893	0.46527	T	0.028274	0.50978	D	0.439	0.74306	.	.	0.801641769357	0.79978	0.4746128776303399	0.47380	0.331932360807	0.35258	0.631737947464	0.57392	T	0.16486	0.51048	T	-0.0370029	0.46393	T	0.0107928	0.71033	D	0.0936066276105811	0.11639	T	0.885311	0.61048	D	0.20169923	0.42190	0.1736824	0.39711	0.20169923	0.42190	0.1736824	0.39710	-4.767	0.34204	T	.	.	0.194	0.47643	B	.;.	.;.	4.357687	0.66984	25.0	0.99826717399223341	0.90852	0.91147	0.52952	D	AEFDBCI	0.658228	0.62958	D	0.158242350071278	0.49202	3.123321	0.311651142769196	0.56222	3.785434	0.999990053998734	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.81	4.95	0.64894	6.884000	0.75403	10.001000	0.83042	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0684:0.0:0.9316:0.0	15.001	0.71127	763	0.50172	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2414.33	42	chr6	15520192	.	G	A	2414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.691;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	18	0	1	0
chr6	16143815	16143815	C	T	exonic	MYLIP	.	nonsynonymous SNV	MYLIP:NM_013262:exon5:c.C779T:p.A260V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0735088454345	.	0.000199681	2.472e-05	9.619e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs201781624	4.105e-06	4.104e-06	5.445e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.321e-05	1.314e-05	0	2.707e-05	2.428e-05	2.2e-06	8.2e-07	.	.	2.428e-05	0	0	0	0	0	0	1.472e-05	0	0	0.11	0.30800	T	0.22	0.30631	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.65	0.82625	D	-1.27	0.31981	N	0.863	0.85979	0.321	0.87897	D	0.654	0.87973	D	10	0.6978902	0.72259	D	0.073509	0.71808	D	0.440	0.74377	.	.	0.917068779723	0.91623	0.763102016952529	0.76258	0.511467238456	0.49222	0.773297011852	0.77917	T	0.41979	0.77170	T	0.248159	0.78429	D	0.300214	0.88207	D	0.83887106180191	0.49235	D	0.957071	0.83814	D	0.47494727	0.65593	0.24573329	0.50067	0.47494727	0.65594	0.24573329	0.50066	-8.716	0.65850	D	.	.	0.807	0.77612	P	.;.	.;.	4.532108	0.71161	25.6	0.99750599825124475	0.84228	0.97483	0.75040	D	AEFBCI	0.865559	0.78468	D	0.71164414811917	0.80397	7.284899	0.680977355404621	0.80937	7.411034	0.999999999999992	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	7.551000	0.81129	7.711000	0.66806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.964	0.92665	786	0.46839	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1302.33	33	chr6	16143815	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=824;ExcessHet=0;FS=4.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.258;SOR=0.383	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1399	18	0	1	0
chr6	16327634	16327642	TGCTGCTGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.669_677del:p.Q223_Q225del,ATXN1:NM_000332:exon8:c.669_677del:p.Q223_Q225del	Spinocerebellar ataxia 1, Autosomal dominant	7	754	43	2	716	763	0.0302251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487970262	0.0012	0.0018	0.0012	0.0012	0.0219	0.0011	0.0011	0.0206	0.0201	0.0003	0.0002	0.0002	0.0219	0.0001	0.0012	0.0006	0.0009	0.0020	0.0011	0.0012	0.0012	0.0011	0.0141	0.0010	0.0009	0.0113	0.0103	0.0005	0	0.0003	0.0006	0.0141	0	0	0.0009	0.0005	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13389.7	35	chr6	16327633	.	GTGCTGCTGC	G	13389.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=1723;ExcessHet=0.0038;FS=0;InbreedingCoeff=0.5476;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=0.385;SOR=0.682	GT:AD:DP:GQ:PL	0/0:0,0:56:99:2078,2117,2191	18	0	1	0
chr6	16327633	16327633	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.677_678insGCAGCAGCA:p.Q225_H226insQQQ,ATXN1:NM_000332:exon8:c.677_678insGCAGCAGCA:p.Q225_H226insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0006	0.0015	0	0.0014	0.0019	0.0035	0.0081	0.0016365	253	154602	rs769091061	0.0057	0.0057	0.0054	0.0060	0.0142	0.0056	0.0055	0.0135	0.0133	0.0017	0.0032	0.0079	0.0013	0.0070	0.0024	0.0052	0.0061	0.0142	0.0061	0.0063	0.0061	0.0061	0.0138	0.0058	0.0056	0.0110	0.0100	0.0026	0	0.0049	0.0112	0.0013	0.0048	0	0.0083	0.0060	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13389.7	35	chr6	16327633	.	G	GTGCTGCTGC	13389.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=1723;ExcessHet=0.0038;FS=0;InbreedingCoeff=0.5476;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=0.385;SOR=0.682	GT:AD:DP:GQ:PL	0/0:0,0:56:99:2078,2117,2191	18	0	1	0
chr6	16327642	16327642	-	TGCTGCTGCTGCTGCTGCTGCTGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.668_669insTCAGCATCAGCAGCAGCAGCAGCAGCAGCA:p.Q222_Q223insHQHQQQQQQQ,ATXN1:NM_000332:exon8:c.668_669insTCAGCATCAGCAGCAGCAGCAGCAGCAGCA:p.Q222_Q223insHQHQQQQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.304e-06	7.94e-06	1.523e-06	3.099e-06	0.0001	6.1e-07	1.7e-07	3.117e-05	1.663e-05	0	0	0	0.0001	0	0	0	0	0	7.824e-06	1.436e-05	0	1.62e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	862.15	41	chr6	16327642	.	C	CTGCTGCTGCTGCTGCTGCTGCTGATGCTGA	862.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.64;DP=1503;ExcessHet=0.119;FS=0.572;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=59.77;MQRankSum=-2.786;QD=5.79;ReadPosRankSum=-0.241;SOR=0.624	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	17	0	1	1
chr6	16327642	16327642	C	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	862.15	41	chr6	16327642	.	C	*	862.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.64;DP=1503;ExcessHet=0.119;FS=0.572;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=59.77;MQRankSum=-2.786;QD=5.79;ReadPosRankSum=-0.241;SOR=0.624	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	17	0	1	1
chr6	16327663	16327663	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCA:p.Q215_Q216insH,ATXN1:NM_000332:exon8:c.647_648insTCA:p.Q215_Q216insH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	3203057	ATXN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0.0030	0	2.698e-05	0	0.0003	6.5e-06	1	154602	rs766029394	0.0029	0.0032	0.0025	0.0033	0.0637	0.0028	0.0028	0.0614	0.0605	0.0003	0.0032	0.0007	0.0637	0.0012	0.0021	0.0005	0.0035	0.0116	0.0051	0.0059	0.0044	0.0058	0.0947	0.0048	0.0046	0.0862	0.0829	0.0007	0	0.0067	0.0012	0.0947	0.0013	0	0.0019	0.0106	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1316.78	41	chr6	16327663	.	C	CTGA	1316.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=1423;ExcessHet=0.119;FS=11.302;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=3.06;SOR=1.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr6	16327663	16327663	-	TGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCAGCATCA:p.Q215_Q216insHQH,ATXN1:NM_000332:exon8:c.647_648insTCAGCATCA:p.Q215_Q216insHQH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.609e-05	0	0	0.0015	0	0	0	0.0002	6.5e-06	1	154602	rs766029394	0.0003	0.0004	0.0002	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0004	0.0004	0	0.0035	0	0.0029	3.916e-05	0.0004	0.0021	0.0008	0.0009	0.0006	0.0009	0.0099	0.0007	0.0006	0.0073	0.0064	0.0007	0	0.0010	0	0.0099	0	0.0214	0.0002	0.0016	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1316.78	41	chr6	16327663	.	C	CTGATGCTGA	1316.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=1423;ExcessHet=0.119;FS=11.302;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=3.06;SOR=1.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr6	16327666	16327666	-	TGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.644_645insTCA:p.Q214_Q215insH,ATXN1:NM_000332:exon8:c.644_645insTCA:p.Q214_Q215insH	Spinocerebellar ataxia 1, Autosomal dominant	5	1460	31	0	26	57	0.0105049	.	.	.	3214550	ATXN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758319764	0.0009	0.0011	0.0008	0.0011	0.0204	0.0009	0.0009	0.0191	0.0186	0.0002	0.0016	0	0.0204	0.0001	0.0006	9.478e-05	0.0011	0.0047	0.0016	0.0019	0.0014	0.0019	0.0491	0.0014	0.0014	0.0417	0.0390	0.0004	0	0.0017	0	0.0491	9.919e-05	0	0.0004	0.0033	0.0092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	737.81	41	chr6	16327666	.	C	CTGA	737.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=1412;ExcessHet=0.119;FS=13.892;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=3.6;SOR=2.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H,ATXN1:NM_000332:exon8:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014359	0.010870	0.008287	0.023529	0.050000	0.000000	0.009615	0.023077	0.02632	794.33	41	chr6	16327669	.	C	A	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.749;DP=1405;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.11;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr6	16327684	16327687	ATGC	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13328.5	41	chr6	16327684	.	ATGC	*	13328.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=1396;ExcessHet=6.1876;FS=1.778;InbreedingCoeff=-0.2955;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=20.63;ReadPosRankSum=0.467;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:46:99:.:.:876,940,1743:.	18	0	1	0
chr6	16327702	16327702	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G609T:p.Q203H,ATXN1:NM_000332:exon8:c.G609T:p.Q203H	Spinocerebellar ataxia 1, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	919020	Inborn_genetic_diseases|ATXN1-related_disorder|Spinocerebellar_ataxia_type_1	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008119,MedGen:C0752120,OMIM:164400,Orphanet:98755	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0126167537461	0.0006	0.000798722	0.0002	0.0001	0	0.0001	0	0.0004	0	6.242e-05	4.53e-05	7	154602	rs199744696	0.0006	0.0006	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0003	0.0003	0	0.0006	0.0003	0	0.0006	0.0005	0.0002	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0008	0.0007	0.0011	0	0.0005	0	0.0008	0	0	0.0005	0.0005	0.0002	0.082	0.33254	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.14	0.60854	T	0.09	0.05917	N	0.233	0.26233	-1.0148	0.25400	T	0.034	0.14726	T	9	0.020778894	0.00485	T	0.012617	0.31353	T	0.075	0.21907	0.258	0.20002	0.678472413359	0.67573	0.4276358579339323	0.42680	0.386732587604	0.39963	0.364669501781	0.20064	T	0.327071	0.69762	T	-0.123965	0.32478	T	-0.415844	0.31551	T	0.00890124525604402	0.00111	T	0.378962	0.09121	T	0.049666084	0.08852	0.08174316	0.18601	0.049666084	0.08852	0.08174316	0.18600	-6.715	0.51923	T	.	.	0.152	0.33755	B	.;.	.;.	0.591786	0.09604	6.376	0.84571437700183638	0.15370	0.01842	0.05707	N	AEFBI	0.043832	0.06979	N	-1.17715047882049	0.05346	0.243515	-1.23148842725495	0.05411	0.2577546	0.0981892677065721	0.16299	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	1.44	0.467	0.15933	-0.574000	0.05960	0.248000	0.16392	-0.808000	0.03092	0.254000	0.24889	0.262000	0.23990	0.007000	0.07825	0.0:0.48:0.52:0.0	5.647	0.16875	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001017	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1500.33	41	chr6	16327702	.	C	A	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.027;DP=1074;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=0.255;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	18	0	1	0
chr6	16327708	16327708	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G603T:p.Q201H,ATXN1:NM_000332:exon8:c.G603T:p.Q201H	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2687397	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0195765690451	0.0005	0.000399361	0.0001	0.0015	0.0004	0	0	0	0	0	0.0001358	21	154602	rs372349437	5.098e-05	5.544e-05	6.444e-05	3.738e-05	0.0010	4.154e-05	3.805e-05	0.0007	0.0006	0.0010	0.0003	0	7.59e-05	0	0	1.261e-05	9.992e-05	5.812e-05	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	1.471e-05	0.0005	0	0.177	0.22224	T	0.025	0.56192	D	0.704	0.41950	P	0.043	0.24256	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.29	0.58897	T	0.16	0.05217	N	0.252	0.28498	-1.0851	0.06389	T	0.028	0.12147	T	9	0.015770197	0.00331	T	0.019577	0.41979	T	0.054	0.15330	0.253	0.19223	0.791448815494	0.78951	0.41637605423121504	0.41553	0.386732587604	0.39963	0.358750879765	0.19203	T	0.322991	0.69394	T	-0.0910873	0.37897	T	-0.368617	0.37051	T	0.0350178840371058	0.02812	T	0.293771	0.05407	T	0.075309716	0.16959	0.09972201	0.23820	0.075309716	0.16959	0.09972201	0.23819	-6.847	0.52908	T	.	.	0.138	0.30184	B	.;.	.;.	0.555634	0.09243	6.024	0.96362305732935738	0.29553	0.16279	0.19315	N	AEFBI	0.040683	0.06085	N	-0.716609019470378	0.15554	0.7849276	-0.790208606574818	0.14735	0.7714717	0.128516304171016	0.17041	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	1.82	0.924	0.18544	-0.166000	0.09943	0.202000	0.15863	0.295000	0.18837	0.664000	0.28295	0.996000	0.32793	0.067000	0.16453	0.0:0.7752:0.0:0.2248	4.028	0.09180	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1494.33	41	chr6	16327708	.	C	A	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.28;DP=1074;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-0.354;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	18	0	1	0
chr6	17115049	17115049	G	A	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon2:c.G169A:p.G57S	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00514281330706	.	0.00119808	0.0002	0.0054	0	0	0	0	0	0	0.0001423	22	154602	rs61731426	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0050	0.0047	0.0057	0.0005	0	0	0	0.0016	5.284e-05	0.0003	2.525e-05	0.0016	0.0016	0.0015	0.0017	0.0055	0.0014	0.0014	0.0049	0.0047	0.0055	0	0.0006	0	0	0	0	4.411e-05	0.0014	0	0.398	0.13392	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	.	.	.	-2.14	0.48523	N	0.075	0.04913	.	.	.	.	.	.	.	0.004187256	0.00083	T	0.005143	0.13063	T	.	.	.	.	0.15556083564	0.15200	0.15973708671507478	0.15894	.	.	0.224567577243	0.01590	T	0.099018	0.40342	T	-0.520048	0.00440	T	-0.517871	0.20511	T	.	.	.	0.468553	0.13811	T	0.035736814	0.04264	0.052497867	0.08661	0.035736814	0.04264	0.052497867	0.08660	-3.213	0.12640	T	.	.	0.093	0.14979	B	.;.	.;.	0.201683	0.05865	2.304	0.74546494833473953	0.10736	0.02012	0.06052	N	AEFBI	0.042622	0.06635	N	.	.	.	.	.	.	0.997272232825637	0.35446	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.18	1.32	0.20897	-0.146000	0.10233	0.770000	0.21388	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.2862:0.0:0.5387:0.175	3.542	0.07370	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003115	0.006329	0.010000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	685.33	33	chr6	17115049	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=737;ExcessHet=0;FS=2.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.379;SOR=0.57	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	18	0	1	0
chr6	17421557	17421557	T	C	exonic	CAP2	.	startloss	CAP2:NM_001363533:exon2:c.T2C:p.M1?,CAP2:NM_001363534:exon2:c.T2C:p.M1?,CAP2:NM_006366:exon2:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	2849752	Cardiomyopathy,_dilated,_2I	MONDO:MONDO:0957545,MedGen:C5830685,OMIM:620462	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.310	0.100226983973	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781551693	8.893e-06	8.893e-06	9.529e-06	8.25e-06	7.194e-06	4.96e-06	3.82e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	8.279e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.92824	D	0.987	0.61912	D	0.942	0.67772	D	0.000007	0.62929	D	0.140458	1	0.23847	N	.	.	.	3.04	0.10871	T	-1.35	0.48354	N	0.933	0.93841	-1.0973	0.04433	T	0.042	0.18076	T	9	0.98545957	0.98800	D	0.100227	0.77237	D	0.310	0.63162	0.979	0.99802	0.602985972322	0.59981	0.47470435861227966	0.47389	.	.	.	.	.	0.038692	0.41398	T	0.185171	0.72518	D	0.0436942	0.73169	D	0.979254543781281	0.72738	D	0.9	0.65058	D	0.52832013	0.68735	0.4997486	0.71078	0.52832013	0.68736	0.4997486	0.71078	-10.767	0.78365	D	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.574287	0.50354	22.9	0.98335975944333665	0.40388	0.64455	0.32413	D	AEFDBHCI	0.405650	0.47845	N	0.888146138081584	0.91165	10.74821	0.739578416039081	0.85376	8.562251	0.999999960051264	0.74766	0.706298	0.61202	0	0.615948	0.52940	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	4.701000	0.61496	6.174000	0.54533	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	12.125	0.53215	879	0.29470	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	34	chr6	17421557	.	T	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=714;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.72;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr6	17600593	17600593	G	A	exonic	FAM8A1	.	nonsynonymous SNV	FAM8A1:NM_016255:exon1:c.G184A:p.A62T	.	.	.	.	.	.	.	.	.	.	.	2341494	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	.	.	0.000798722	0.0004	0	0	0	0	0.0005	0.0102	0.0002	0.00011	17	154602	rs568604997	0.0002	0.0002	0.0002	0.0002	0.0034	0.0001	0.0001	0.0021	0.0017	0.0006	0.0009	0	0	4.286e-05	0.0034	0.0001	0.0005	4.136e-05	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0001	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	0.0002	0.0005	0	0.065	0.36310	T	0.113	0.36901	T	0.012	0.16265	B	0.002	0.06944	B	0.885750	0.08722	N	0.925584	1	0.08975	N	0	0.06538	N	.	.	.	0.09	0.05917	N	0.119	0.10911	-0.9551	0.40078	T	0.016	0.06473	T	9	0.0142546	0.00300	T	.	.	.	0.009	0.00846	.	.	0.115124310173	0.11017	0.3575093161736696	0.35664	0.306372794071	0.32934	0.829345345497	0.86461	D	.	.	.	-0.366701	0.03764	T	-0.396925	0.33741	T	0.0332993237768246	0.02521	T	0.441756	0.12241	T	0.044016514	0.06964	0.092616044	0.21836	0.044016514	0.06964	0.092616044	0.21836	-5.496	0.41831	T	.	.	0.089	0.12228	B	.	.	0.795393	0.11661	8.243	0.97192980158583198	0.32775	0.08272	0.14223	N	ALL	0.027636	0.02294	N	-1.24658721515203	0.04345	0.1959131	-1.24614351603335	0.05188	0.2466096	0.999999742446051	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.22	1.06	0.19341	0.205000	0.17154	0.092000	0.14529	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1075:0.0:0.5396:0.3529	5.166	0.14414	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009019	0.045977	0.011706	0.000000	0.000000	0.009434	0.000000	0.000000	0.02778	618.73	30	chr6	17600593	.	G	A	618.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.368;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0422;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.93;SOR=0.734	GT:AD:DP:GQ:PL	./.:19,0:19:0:0,0,505	17	0	1	1
chr6	17632846	17632846	-	AAAA	splicing	NUP153	NM_001278210:exon16:c.2339-2->TTTT;NM_001278209:exon18:c.2558-2->TTTT;NM_005124:exon17:c.2465-2->TTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0060	0.0043	0.0007	0.0067	0.0044	0.0031	0.0023	0.0024579	380	154602	rs36027788	0.0050	0.0080	0.0050	0.0050	0.0080	0.0049	0.0049	0.0068	0.0063	0.0040	0.0080	0.0047	0.0018	0.0078	0.0036	0.0050	0.0048	0.0057	0.0001	0.0004	0.0001	8.939e-05	0.0002	6.416e-05	5.108e-05	0.0001	7.217e-05	0.0002	0	0	0	0	0.0002	0	5.248e-05	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	688.86	7	chr6	17632846	.	T	TAAAA	688.86	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.135;DP=375;ExcessHet=15.1749;FS=13.963;InbreedingCoeff=-0.5299;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.272;SOR=1.899	GT:AD:DP:GQ:PL	./.:19,0:19:0:0,0,281	16	0	1	2
chr6	17637748	17637748	A	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon15:c.T1743G:p.D581E,NUP153:NM_005124:exon16:c.T1869G:p.D623E,NUP153:NM_001278209:exon17:c.T1962G:p.D654E	.	430	1081	11	0	0	11	0.00506213	.	.	.	699467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0065042790654	0.0045	0.00299521	0.0048	0.0011	0.0014	0	0.0047	0.0064	0.0045	0.0060	0.0048576	751	154602	rs61748574	0.0058	0.0057	0.0058	0.0058	0.0176	0.0057	0.0056	0.0148	0.0137	0.0009	0.0017	0.0008	0	0.0039	0.0176	0.0064	0.0056	0.0055	0.0040	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0010	0	0.0034	0.0014	0	0.0032	0.0340	0.0065	0.0028	0.0039	0.399	0.10517	T	0.551	0.09393	T	0.102	0.25827	B	0.048	0.24975	B	0.059073	0.22352	N	0.379952	1	0.08975	N	2.4	0.69460	M	1.59	0.28836	T	-0.5	0.15782	N	0.064	0.03613	-0.9679	0.37632	T	0.017	0.06950	T	10	0.008774191	0.00199	T	0.006504	0.17129	T	0.051	0.14325	0.549	0.66436	0.583783962782	0.58051	0.15777850133853077	0.15698	0.0448611855857	0.04851	0.320056021214	0.13429	T	0.009123	0.08323	T	-0.579136	0.00195	T	-0.599819	0.12826	T	0.00686507471851824	0.00078	T	0.859414	0.55137	D	0.016476626	0.00200	0.022436127	0.00268	0.016476626	0.00200	0.022436127	0.00268	-3.121	0.11539	T	.	.	0.121	0.31658	B	.;.;.	.;.;.	1.238146	0.16335	12.47	0.74435273872029661	0.10694	0.80698	0.40269	D	AEFBI	0.124234	0.24020	N	-0.816928905228238	0.12878	0.6306189	-0.783641183062532	0.14896	0.7807172	0.0878242586402551	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	0.7	0.17258	1.228000	0.32190	1.101000	0.24069	-0.050000	0.17177	0.943000	0.32764	0.991000	0.31484	0.432000	0.27494	0.4051:0.1801:0.4148:0.0	4.687	0.12144	482	0.77288	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008073	0.005051	0.004076	0.017751	0.000000	0.000000	0.003049	0.011364	0.05263	4789.83	33	chr6	17637748	.	A	C	4789.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.224;DP=951;ExcessHet=0.119;FS=2.289;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.832;SOR=0.573	GT:AD:DP:GQ:PL	0/1:90,85:175:99:2276,0,2481	17	0	2	0
chr6	18263847	18263847	-	TCC	exonic	DEK	.	nonframeshift insertion	DEK:NM_001134709:exon2:c.140_141insGGA:p.E47_K48insE,DEK:NM_003472:exon2:c.140_141insGGA:p.E47_K48insE	Leukemia, acute nonlymphocytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0002	0.0004	0	0.0002	0	0.0002	0	0.0002	0.0001617	25	154602	rs539995106	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0007	0.0001	3.833e-05	0.0004	3.747e-05	0.0002	0.0004	0.0007	0.0004	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0002	0.0006	0.0005	0.0004	0	6.546e-05	0	0.0014	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	967.29	64	chr6	18263847	.	T	TTCC	967.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.229;DP=690;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.4;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1044	18	0	1	0
chr6	19837874	19837874	-	GCG	exonic	ID4	.	nonframeshift insertion	ID4:NM_001546:exon1:c.120_121insGCG:p.A48_R49insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0	0	0	.	0	0	.	0	0.0003074	8	26028	rs537169414	0.0008	0.0007	0.0008	0.0008	0.0053	0.0008	0.0007	0.0045	0.0043	0.0005	0.0007	7.445e-05	0.0053	5.682e-05	0.0006	0.0007	0.0009	0.0022	0.0008	0.0008	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0005	0	0.0019	0.0003	0.0024	0	0.0034	0.0007	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	471.29	38	chr6	19837874	.	C	CGCG	471.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.621;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-2.147;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	18	0	1	0
chr6	20124479	20124479	G	A	exonic	MBOAT1	.	nonsynonymous SNV	MBOAT1:NM_001080480:exon8:c.C836T:p.P279L	.	438	1070	14	0	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00769616227535	0.0008	0.000199681	0.0017	0.0002	0.0046	0	0	0.0019	0.0044	0.0010	0.0016106	249	154602	rs146228602	0.0013	0.0013	0.0012	0.0013	0.0192	0.0012	0.0012	0.0163	0.0153	0.0015	0.0026	0.0073	2.519e-05	0.0001	0.0192	0.0010	0.0022	0.0013	0.0012	0.0012	0.0013	0.0012	0.0024	0.0011	0.0010	0.0017	0.0015	0.0003	0	0.0024	0.0078	0	0	0.0272	0.0014	0.0033	0.0004	0.789	0.03209	T	0.987	0.02382	T	0.0	0.02946	B	0.0	0.01387	B	0.001710	0.38216	N	0.225123	0.639846	0.30625	N	-1.55	0.00465	N	1.88	0.23884	T	0.47	0.03090	N	0.263	0.29774	-0.9068	0.47238	T	0.006	0.02093	T	10	0.005061716	0.00109	T	0.007696	0.20431	T	0.020	0.03691	.	.	0.220303561663	0.21668	0.38392698013635695	0.38307	0.0498426927795	0.05475	0.321025758982	0.13577	T	0.002451	0.01845	T	-0.570574	0.00220	T	-0.597915	0.12986	T	0.0055421875458427	0.00060	T	0.768423	0.39759	T	0.025006266	0.01390	0.023661518	0.00379	0.025006266	0.01390	0.023661518	0.00379	-5.901	0.45444	T	.	.	0.052	0.00234	B	.	.	0.620465	0.09889	6.649	0.27659509698069357	0.01384	0.32297	0.24550	N	AEFBIJ	0.059171	0.11156	N	-1.15634547892508	0.05676	0.2593829	-1.00269412925123	0.09726	0.4855458	0.874897168255725	0.25494	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.61	0.549	0.16403	2.523000	0.45241	3.048000	0.36109	-0.116000	0.14526	0.966000	0.33990	0.999000	0.35428	0.037000	0.13953	0.7298:0.0:0.2702:0.0	9.466	0.37978	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.010101	0.033967	0.020468	0.000000	0.017241	0.009146	0.003788	0.05263	1783.83	34	chr6	20124479	.	G	A	1783.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=710;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.52;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	17	0	2	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.02632	1473.33	38	chr6	21594616	.	C	G	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.21;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del	.	267	1249	4	2	0	8	0.00319234	.	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1140.29	38	chr6	21595020	.	CGGGGGCGGCCAT	C	1140.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=791;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=1.04;SOR=1.033	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:39,17:64:99:210,0,536	7	0	12	0
chr6	24145911	24145911	A	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.A553G:p.R185G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0092157818594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274678295	8.215e-06	8.209e-06	6.812e-06	9.632e-06	9.894e-06	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	1.658e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.013	0.63109	D	0.13	0.27095	B	0.022	0.19653	B	0.000377	0.45194	D	0.251551	0.623162	0.81001	D	0	0.06538	N	2.05	0.20664	T	-1.49	0.36385	N	0.094	0.07535	-1.0779	0.07761	T	0.020	0.08453	T	10	0.1253792	0.23825	T	0.009216	0.24225	T	0.027	0.05988	0.399	0.42753	0.239901079897	0.23603	0.6926515116065171	0.69205	0.377667360134	0.39193	0.286617040634	0.08431	T	0.054617	0.29774	T	-0.198237	0.21061	T	-0.507044	0.21619	T	0.374184250831604	0.27959	T	0.811219	0.46271	T	0.18000871	0.39101	0.2233324	0.47208	0.18000871	0.39100	0.2233324	0.47207	-2.92	0.09345	T	.	.	0.094	0.15251	B	.;.	.;.	2.997754	0.40040	21.1	0.98289433793818637	0.39935	0.84391	0.43473	D	AEFGBHCIJ	0.358286	0.44901	N	-0.193135523571529	0.33418	1.895791	-0.0669357637144418	0.36765	2.143874	0.999999999867944	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	2.93	0.33092	3.235000	0.51027	5.274000	0.48161	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7137:0.2863:0.0:0.0	12.245	0.53880	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1479.33	34	chr6	24145911	.	A	G	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.286;DP=850;ExcessHet=0;FS=1.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.935;SOR=0.811	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr6	24449830	24449830	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon15:c.G1405A:p.V469M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.104604768328	.	0.000399361	7.443e-05	0.0002	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs142854013	9.784e-05	9.782e-05	0.0001	9.489e-05	0.0003	8.445e-05	7.922e-05	6.322e-05	5.825e-05	5.974e-05	4.473e-05	0.0015	5.039e-05	0	0.0003	7.645e-05	0.0002	0	6.568e-05	6.562e-05	5.14e-05	8.06e-05	0.0002	3.515e-05	2.615e-05	2.26e-05	9.07e-06	4.813e-05	0	0.0001	0.0006	0.0002	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000656	0.42656	D	0.098975	0.928214	0.36888	D	3.545	0.93219	H	-0.82	0.74053	T	-2.4	0.52776	N	0.639	0.65159	0.628	0.92270	D	0.682	0.89014	D	10	0.33045512	0.50283	T	0.104605	0.77927	D	0.649	0.86736	.	.	0.831590232921	0.82998	0.6765934112816115	0.67598	0.454322023127	0.45126	0.529373943806	0.42946	T	0.586482	0.86538	D	0.0620918	0.59875	T	0.0430967	0.73130	D	0.590603709220886	0.36030	D	0.940639	0.77718	D	0.52934384	0.68793	0.55822855	0.74444	0.52934384	0.68794	0.55822855	0.74444	-11.191	0.80695	D	.	.	0.340	0.55883	B	.	.	5.218045	0.87575	29.3	0.99906851052549028	0.97726	0.82323	0.41568	D	AEFBI	0.249550	0.36976	N	0.874268062007635	0.90444	10.40643	0.761049614675156	0.86981	9.066697	0.0271670618771353	0.13757	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	2.895000	0.48347	5.826000	0.50123	0.547000	0.25779	0.990000	0.36992	1.000000	0.68203	0.864000	0.41028	0.0:0.922:0.0:0.078	13.400	0.60323	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1447.33	34	chr6	24449830	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.33;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	24797645	24797645	T	C	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon2:c.A458G:p.E153G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00643654671084	.	.	0.0004	0	0	0	.	0.0004	0	0.0004	2.59e-05	4	154602	rs754369554	0.0001	0.0001	9.705e-05	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0004	2.799e-05	0	0.0014	8.529e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	2.405e-05	0	0.0016	0.0006	0	0	0.0034	7.351e-05	0	0.0004	0.03	0.45393	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.51952	T	-5.36	0.84811	D	0.11	0.09631	.	.	.	.	.	.	.	0.06699014	0.09269	T	0.006437	0.16956	T	.	.	.	.	0.591526896791	0.58829	0.1991145472718713	0.19828	.	.	.	.	.	0.086519	0.37743	T	-0.47835	0.00756	T	-0.584344	0.14160	T	.	.	.	0.323368	0.06588	T	0.20130898	0.42138	0.23354726	0.48547	0.20130898	0.42137	0.23354726	0.48546	-4.139	0.25863	T	.	.	0.164	0.36113	B	.	.	2.291072	0.29305	18.08	0.96652538825715284	0.30596	0.16418	0.19380	N	AEFBI	0.124112	0.24002	N	.	.	.	.	.	.	0.997548531848943	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.79	0.60909	2.295000	0.43236	6.093000	0.53467	0.665000	0.62972	0.064000	0.21895	0.994000	0.32194	0.002000	0.04165	0.0:0.0788:0.0:0.9212	9.799	0.39918	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1571.33	41	chr6	24797645	.	T	C	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.084;DP=829;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.243;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	24847657	24847657	C	T	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_014722:exon13:c.G1112A:p.R371Q	.	428	1020	72	2	0	76	0.0359168	.	.	.	1259819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0015	0.00559105	0.0152	0.0005	0.0182	0.0069	0	0.0056	0.0084	0.0335	0.0026584	411	154602	rs150142878	0.0040	0.0038	0.0031	0.0049	0.0293	0.0039	0.0039	0.0283	0.0279	0.0002	0.0017	0.0093	0.0214	0.0005	0.0133	0.0017	0.0037	0.0293	0.0026	0.0026	0.0022	0.0029	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0016	0.0078	0.0085	0.0007	0.0136	0.0022	0.0047	0.0224	0.213	0.19430	T	0.617	0.07518	T	0.196	0.29532	B	0.011	0.15521	B	0.000106	0.50451	N	0.172465	0.597976	0.81001	D	.	.	.	3.01	0.09075	T	-0.37	0.13226	N	0.061	0.04188	-1.0266	0.21560	T	0.011	0.04227	T	10	0.0034193397	0.00060	T	.	.	.	0.050	0.13987	.	.	.	.	0.49750029559525477	0.49671	0.351907675512	0.37028	0.343460798264	0.16956	T	0.007796	0.07183	T	-0.586794	0.00175	T	-0.593353	0.13376	T	0.0158213447003142	0.00370	T	0.580242	0.20999	T	0.043653242	0.06841	0.056604296	0.10144	0.039717603	0.05537	0.056604296	0.10144	-4.878	0.35487	T	.	.	0.086	0.10883	B	.;.;.;.	.;.;.;.	2.191586	0.27940	17.63	0.99829388644124484	0.91112	0.92555	0.55987	D	AEFDGBIJ	0.661606	0.63177	D	-0.140728635558484	0.35630	2.049042	-0.0174606200207295	0.38927	2.300441	0.999999968527192	0.74766	0.487112	0.14033	0	0.379588	0.06130	0	8.03E-4	0.00125	3	0.564101	0.26826	0	.	.	4.92	4.05	0.46415	2.561000	0.45567	1.628000	0.27724	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.9092:0.0:0.0908	11.175	0.47821	793	0.45818	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010181	0.000000	0.000000	0.004348	0.000000	0.000000	0.016854	0.085106	0.05263	4710.83	33	chr6	24847657	.	C	T	4710.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=935;ExcessHet=0.119;FS=4.85;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.656;SOR=0.945	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr6	25537912	25537912	G	C	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon25:c.G2125C:p.G709R,CARMIL1:NM_017640:exon25:c.G2125C:p.G709R	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0127630216195	.	0.000599042	0.0009	0	0.0009	0	0	0.0011	0.0064	0.0016	0.0006145	95	154602	rs41271819	0.0005	0.0005	0.0005	0.0006	0.0021	0.0005	0.0005	0.0013	0.0012	0	0.0004	0.0015	0	0	0.0021	0.0005	0.0008	0.0015	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0006	0.0023	0	0	0	0.0006	0.0024	0.0008	0.086	0.32610	T	0.359	0.17014	T	0.251	0.31212	B	0.145	0.33871	B	0.000486	0.43931	D	0.262542	0.999998	0.58761	D	.	.	.	2.34	0.16351	T	-0.94	0.25118	N	0.287	0.32481	-1.0195	0.23877	T	0.020	0.08593	T	10	0.016815603	0.00356	T	0.012763	0.31612	T	0.103	0.29403	0.53	0.63707	0.043077524339	0.03247	0.3902178503288509	0.38936	0.43234834177	0.43413	0.359795749187	0.19355	T	0.030262	0.21493	T	-0.447668	0.01166	T	-0.451199	0.27566	T	0.0294889304795652	0.01912	T	0.964404	0.86792	D	0.13729742	0.31796	0.1568217	0.36699	0.13729742	0.31796	0.1568217	0.36698	-8.556	0.64798	D	.	.	0.115	0.23183	B	.	.	3.674807	0.52277	23.2	0.99871088516419382	0.94902	0.99182	0.92439	D	AEFDGBHIJ	0.900540	0.84619	D	0.243855067363158	0.53334	3.502896	0.418972141973165	0.62747	4.495485	0.999999999999964	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	9.323000	0.95598	6.622000	0.56123	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:0.0:1.0:0.0	19.242	0.93876	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	555.33	35	chr6	25537912	.	G	C	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.757;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-1.373;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr6	25761998	25761998	-	T	exonic	SLC17A4	.	stopgain	SLC17A4:NM_005495:exon2:c.36_37insT:p.D13*	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0005	9.638e-05	0.0013	0	0.0002	0.0006	0.0022	6.113e-05	0.0004463	69	154602	rs754805517	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.004076	0.005848	0.000000	0.017241	0.000000	0.003788	0.02632	1288.29	34	chr6	25761998	.	G	GT	1288.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.822;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1274:.	18	0	1	0
chr6	25761999	25761999	G	T	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.G37T:p.D13Y	.	433	1080	9	0	0	9	0.00414938	.	.	.	2340078	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0156294671014	.	.	0.0005	9.641e-05	0.0013	0	0.0002	0.0006	0.0022	6.116e-05	0.0004075	63	154602	rs143424660	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.406e-05	0	0.0016	0.0040	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.008	0.58626	D	0.016	0.60972	D	0.958	0.54977	D	0.438	0.45631	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.31	0.68030	T	-2.9	0.60827	D	0.206	0.22870	-0.8428	0.52460	T	0.176	0.52037	T	10	0.01386109	0.00293	T	0.015629	0.36469	T	0.229	0.52916	.	.	0.37568098594	0.37176	0.42803958335129305	0.42720	0.135075783952	0.15223	0.268635213375	0.05964	T	0.149937	0.48918	T	-0.428246	0.01519	T	-0.469706	0.25548	T	0.0681280327577997	0.08387	T	0.493751	0.15260	T	0.09663421	0.22764	0.11942261	0.28824	0.09663421	0.22764	0.11942261	0.28824	-6.022	0.46464	T	.	.	0.082	0.08899	B	.	.	1.895600	0.24075	16.26	0.82494463703240095	0.14222	0.04367	0.09940	N	AEFBI	0.091053	0.18447	N	-0.635765753794114	0.17878	0.9236793	-0.804943136868292	0.14376	0.7508268	6.23045122054681E-4	0.07482	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-0.913	0.09966	0.480000	0.21954	1.514000	0.27045	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.017000	0.10941	0.1887:0.4711:0.3402:0.0	5.993	0.18706	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.004076	0.005848	0.000000	0.017241	0.003049	0.003788	0.02632	1331.33	34	chr6	25761999	.	G	T	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.493;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1274:.	18	0	1	0
chr6	25762001	25762001	C	A	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.C39A:p.D13E	.	432	1081	9	0	0	9	0.00414556	.	.	.	2340079	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0047206888041	.	.	0.0005	9.639e-05	0.0013	0	0.0002	0.0006	0.0022	6.118e-05	0.0004075	63	154602	rs150942022	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.703	0.04134	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.16	0.65378	T	-0.13	0.08971	N	0.108	0.09349	-1.0368	0.18295	T	0.042	0.18118	T	10	0.006346971	0.00143	T	0.004721	0.11753	T	0.041	0.10877	0.305	0.27485	0.137902524267	0.13322	0.05126253807932022	0.05068	0.0685600842673	0.07678	0.259500771761	0.04832	T	0.015135	0.12752	T	-0.602972	0.00140	T	-0.720688	0.04762	T	0.00904730794126588	0.00113	T	0.29617	0.05481	T	0.026142983	0.01635	0.022645758	0.00285	0.026142983	0.01635	0.022645758	0.00285	-3.348	0.14364	T	.	.	0.098	0.16275	B	.	.	-1.117574	0.00620	0.016	0.28101542504643928	0.01427	0.00787	0.03223	N	AEFBI	0.061203	0.11685	N	-2.06775497969595	0.00151	0.006451039	-2.13961945000669	0.00153	0.006711604	0.986420855573553	0.31061	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-8.46	0.00822	-1.308000	0.02839	-3.557000	0.02697	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1351:0.5029:0.1022:0.2597	4.559	0.11548	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.017241	0.000000	0.003788	0.02632	1309.33	34	chr6	25762001	.	C	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=724;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.948;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1274:.	18	0	1	0
chr6	25776640	25776640	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon9:c.A1033G:p.I345V,SLC17A4:NM_001286121:exon10:c.A871G:p.I291V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00299521	0.0012	0	0	0.0001	0	1.511e-05	0	0.0097	0.0010802	167	154602	rs150228078	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	2.988e-05	6.71e-05	0	2.519e-05	0	0.0005	2.429e-05	0.0005	0.0085	0.0003	0.0003	0.0001	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0.0034	0	0	0.0102	0.228	0.18434	T	0.525	0.13328	T	0.005	0.12996	B	0.021	0.19346	B	0.359920	0.13686	N	0.666005	1	0.08975	N	0.73	0.18813	N	0.34	0.58176	T	0.44	0.03955	N	0.076	0.05037	-0.9880	0.33102	T	0.019	0.07986	T	10	0.004125625	0.00081	T	.	.	.	0.098	0.28162	0.585	0.71245	0.311387274539	0.30754	0.10921806055746304	0.10850	0.0662604446901	0.07392	0.288225471973	0.08665	T	0.046599	0.27473	T	-0.606608	0.00133	T	-0.637304	0.09868	T	0.00938747378524161	0.00120	T	0.153785	0.01340	T	0.059848104	0.12212	0.093146056	0.21986	0.059848104	0.12212	0.093146056	0.21985	-3.936	0.24355	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	0.188817	0.05752	2.196	0.72122690817038215	0.09864	0.01240	0.04375	N	AEFBI	0.077401	0.15594	N	-1.12644831848748	0.06176	0.2836162	-1.10171037429664	0.07667	0.3738736	0.0030924310445907	0.09922	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.63	-3.92	0.03880	-0.168000	0.09914	-0.445000	0.09135	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3183:0.14:0.406:0.1357	2.824	0.05143	593	0.68665	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	866.33	33	chr6	25776640	.	A	G	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.435;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.26;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	18	0	1	0
chr6	25966733	25966733	C	T	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00796907162346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.073	0.43159	T	0.013	0.16609	B	0.025	0.20508	B	0.175580	0.17247	N	0.425981	1	0.08975	N	1.495	0.37439	L	1.91	0.23283	T	-1.33	0.33197	N	0.07	0.04307	-0.9823	0.34468	T	0.015	0.06282	T	10	0.030255616	0.01152	T	0.007969	0.21136	T	0.084	0.24469	0.369	0.37850	0.186928172975	0.18263	0.4083657326756324	0.40752	0.250326902803	0.27606	0.307843506336	0.11581	T	0.012802	0.11189	T	-0.263648	0.12476	T	-0.616488	0.11462	T	0.0391985756456803	0.03547	T	0.528347	0.17454	T	0.08360698	0.19313	0.04607029	0.06338	0.08360698	0.19313	0.04607029	0.06338	-4.433	0.30001	T	.	.	0.148	0.32709	B	.	.	-0.137679	0.03423	0.624	0.57455407643429457	0.05773	0.02649	0.07255	N	AEFBCI	0.026864	0.02090	N	-1.42567298449373	0.02415	0.1066086	-1.50671047999851	0.02292	0.1051811	0.999762200663436	0.42728	0.722319	0.85440	0	0.685571	0.66316	0	0.675528	0.61593	0	0.735409	0.98432	0	.	.	4.37	-1.79	0.07504	-1.432000	0.02536	-5.321000	0.01762	-1.022000	0.01727	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.26:0.2432:0.255:0.2419	0.278	0.00224	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2435.33	34	chr6	25966733	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=842;ExcessHet=0;FS=10.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.04;SOR=0.733	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1185	18	0	1	0
chr6	25983173	25983173	C	A	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon8:c.C884A:p.T295N	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00359425	0.0015	0	0	0.0001	0	3.104e-05	0.0012	0.0155	0.0014036	217	154602	rs143711869	0.0007	0.0007	0.0004	0.0010	0.0116	0.0007	0.0007	0.0110	0.0107	0.0001	7.73e-05	0	5.094e-05	0	0.0007	2.01e-05	0.0009	0.0116	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0124	0.0113	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0151	0.029	0.45756	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.80445	D	0.003503	0.34847	N	0.132552	0.565346	0.31223	N	3.28	0.90206	M	2.24	0.17923	T	-3.43	0.67359	D	0.466	0.50237	-1.0122	0.26228	T	0.078	0.31103	T	10	0.012442678	0.00267	T	.	.	.	0.099	0.28413	0.474	0.55020	0.585079339063	0.58181	0.4207413757588425	0.41990	0.880499500648	0.69754	0.443598479033	0.31068	T	0.201123	0.55891	T	-0.501344	0.00562	T	-0.482535	0.24177	T	0.156350673181647	0.17598	T	0.951105	0.81346	D	0.21270856	0.43631	0.2412389	0.49516	0.21270856	0.43631	0.2412389	0.49515	-7.274	0.56010	T	.	.	0.226	0.45738	B	.	.	4.137356	0.61958	24.4	0.99190250276350878	0.54965	0.55469	0.29872	D	AEFBCI	0.221851	0.34643	N	0.460695537912849	0.64813	4.744415	0.323219357858023	0.56907	3.854861	0.0272742771256211	0.13764	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.3	3.42	0.38259	0.965000	0.28916	2.680000	0.34010	0.454000	0.21428	0.385000	0.26047	0.998000	0.33993	0.963000	0.52385	0.0:0.775:0.0:0.225	6.091	0.19220	484	0.77165	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|E3 ubiquitin-protein ligase TRIM38, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1486.33	33	chr6	25983173	.	C	A	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=765;ExcessHet=0;FS=4.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.515;SOR=1.148	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	26017716	26017716	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C17T:p.P6L	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00962809099367	.	.	6.873e-05	0	0	0.0007	0	1.573e-05	0	6.241e-05	5.17e-05	8	154602	rs776480210	3.012e-05	3.01e-05	2.315e-05	3.715e-05	0.0005	2.283e-05	2.033e-05	0.0003	0.0002	2.991e-05	0	0	0.0005	1.89e-05	0	1.709e-05	3.313e-05	3.479e-05	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.387e-05	0	0	0	0	0.0006	0	0	2.94e-05	0	0	0.039	0.42487	D	0.026	0.55759	D	0.004	0.12183	B	0.006	0.12133	B	0.000007	0.62929	N	0.111433	0.999976	0.53665	D	0	0.06538	N	2.35	0.16217	T	-3.54	0.68651	D	0.352	0.39356	-1.0113	0.26510	T	0.010	0.03492	T	10	0.070050925	0.10138	T	0.009628	0.25176	T	0.160	0.41473	0.21	0.12781	0.316788114976	0.31282	0.3966223728687706	0.39577	.	.	0.404284775257	0.25665	T	0.720393	0.92093	D	-0.444854	0.01211	T	-0.485892	0.23821	T	0.143226027696074	0.16549	T	0.837516	0.51030	T	0.12675662	0.29680	0.17207569	0.39436	0.12675662	0.29679	0.17207569	0.39435	-4.398	0.29530	T	.	.	0.126	0.26731	B	.	.	2.454438	0.31607	18.79	0.96056774387702826	0.28579	0.94520	0.61431	D	ALL	0.384468	0.46558	N	-0.640231907076008	0.17745	0.9157243	-0.586304514799077	0.19850	1.066848	0.999999999791518	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.273489	0.05413	2	.	.	4.2	2.4	0.28568	6.009000	0.70403	3.940000	0.40597	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.172:0.0:0.828:0.0	9.845	0.40190	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	34	chr6	26017716	.	G	A	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=744;ExcessHet=0;FS=5.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.49;SOR=1.375	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1222,0,1447	18	0	1	0
chr6	26087508	26087508	G	A	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon1:c.G68A:p.R23H,HFE:NM_001300749:exon1:c.G68A:p.R23H,HFE:NM_001384164:exon1:c.G68A:p.R23H,HFE:NM_139003:exon1:c.G68A:p.R23H,HFE:NM_139004:exon1:c.G68A:p.R23H,HFE:NM_139006:exon1:c.G68A:p.R23H,HFE:NM_139007:exon1:c.G68A:p.R23H,HFE:NM_139008:exon1:c.G68A:p.R23H,HFE:NM_139009:exon1:c.G68A:p.R23H,HFE:NM_139010:exon1:c.G68A:p.R23H,HFE:NM_139011:exon1:c.G68A:p.R23H	Hemochromatosis, Autosomal recessive	2	1501	18	1	0	20	0.00661813	.	.	.	299721	not_provided|Hemochromatosis_type_1|Hereditary_hemochromatosis	MedGen:C3661900|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.295020248665	0.0005	0.000798722	0.0006	0.0002	0.0003	0	0.0002	0.0005	0.0011	0.0019	0.0005757	89	154602	rs148161858	0.0007	0.0007	0.0006	0.0007	0.0021	0.0006	0.0006	0.0018	0.0017	2.989e-05	0.0002	0.0001	0	0.0001	0.0016	0.0006	0.0013	0.0021	0.0004	0.0004	0.0003	0.0005	0.0029	0.0003	0.0003	0.0018	0.0014	0.0002	0	0.0003	0	0	0	0	0.0006	0	0.0029	0.001	0.91255	D	0.013	0.92824	D	0.998	0.90584	D	0.796	0.82059	P	0.164446	0.03064	N	2.113290	1	0.08975	N	0.295	0.10161	N	-2.59	0.89822	D	-2.32	0.51478	N	0.356	0.45142	-0.3476	0.73623	T	0.554	0.83696	D	10	0.0096851885	0.00218	T	0.29502	0.90693	D	0.051	0.14325	.	.	0.773747110012	0.77167	0.551466225450067	0.55072	0.953332268801	0.72727	0.53496837616	0.43734	T	0.186906	0.54035	T	-0.213234	0.18927	T	-0.0855476	0.64496	T	0.0786937886416988	0.09819	T	0.866813	0.67676	D	0.052739207	0.09880	0.05648044	0.10099	0.053234283	0.10044	0.06300366	0.12413	-6.218	0.48069	T	0.4947488435840709	0.57099	0.121	0.36574	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.886442	0.38214	20.7	0.99885710031840236	0.96126	0.11632	0.16761	N	ALL	0.073383	0.14677	N	-0.220729361420122	0.32284	1.819043	-0.358835959463576	0.26237	1.447881	0.999999999998666	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.75	2.85	0.32333	0.520000	0.22586	-0.954000	0.06803	0.674000	0.70861	0.023000	0.19925	0.000000	0.08366	0.378000	0.26290	0.0:0.1749:0.629:0.1961	7.596	0.27215	495	0.76383	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001362	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	994.33	35	chr6	26087508	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=708;ExcessHet=0;FS=3.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.323;SOR=1.039	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	18	0	1	0
chr6	26107645	26107645	T	C	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.A449G:p.N150S	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0002	0.00379393	0.0027	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0188	0.0023221	359	154602	rs138508711	0.0013	0.0013	0.0008	0.0018	0.0177	0.0012	0.0012	0.0169	0.0166	0.0001	0.0001	0	0.0007	0	0.0026	0.0002	0.0015	0.0177	0.0006	0.0006	0.0003	0.0010	0.0160	0.0005	0.0005	0.0131	0.0120	0.0001	0	0.0001	0	0.0002	0	0	0.0002	0	0.0160	0.335	0.12920	T	0.151	0.32355	T	0.003	0.11197	B	0.003	0.08700	B	0.136656	0.18439	U	0.497551	1	0.08975	N	0.695	0.17993	N	3.73	0.03982	T	-0.17	0.09627	N	0.13	0.12484	-0.9343	0.43500	T	0.002	0.00676	T	10	0.0032148063	0.00055	T	.	.	.	0.023	0.04649	.	.	0.0297737177859	0.01360	0.02418228079343082	0.02369	.	.	0.221163898706	0.01378	T	0.088794	0.38234	T	-0.715893	0.00029	T	-0.786171	0.02272	T	0.0100690716600304	0.00135	T	0.430757	0.11694	T	0.019084346	0.00434	0.02606675	0.00678	0.019084346	0.00433	0.02606675	0.00678	-1.071	0.01081	T	.	.	0.061	0.01059	B	.	.	-1.193482	0.00537	0.013	0.51771475789712851	0.04624	0.19478	0.20676	N	AEFBI	0.258806	0.37727	N	-1.43983462540798	0.02298	0.1013078	-1.45474056233437	0.02727	0.1259742	0.957174857847376	0.28289	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.530356	0.10902	0	.	.	5.13	-4.25	0.03508	-0.018000	0.12508	-3.959000	0.02427	-0.728000	0.03745	0.137000	0.23458	0.000000	0.08366	0.003000	0.05239	0.0:0.1552:0.6319:0.2129	10.395	0.43376	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.015152	0.05263	3300.83	87	chr6	26107645	.	T	C	3300.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=1556;ExcessHet=0.119;FS=0.44;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.72;SOR=0.658	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	17	0	2	0
chr6	26108071	26108071	G	A	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.C23T:p.A8V	.	429	1087	6	0	0	6	0.00275229	.	.	.	3273252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.00307608869733	0.0002	.	0.0002	0	0.0003	0.0001	0	0.0002	0	0.0004	0.000194	30	154602	rs375287545	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	0.0001	0.0022	0.0018	0.0001	0.0004	0	0	1.872e-05	0.0033	8.903e-05	0.0004	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.161e-05	6.718e-05	0.0002	0.0001	4.813e-05	0	0.0004	0	0.0002	0	0	0.0001	0	0.0004	0.101	0.30375	T	0.095	0.39492	T	0.051	0.22415	B	0.01	0.14941	B	0.122586	0.18950	N	0.371629	1	0.08975	N	0	0.06538	N	2.86	0.10482	T	-1.94	0.45042	N	0.136	0.13341	-0.9393	0.42727	T	0.004	0.01125	T	10	0.026951075	0.00851	T	0.003076	0.06636	T	0.092	0.26621	.	.	0.0482279557977	0.04254	0.5516159165946831	0.55087	.	.	0.275006175041	0.06806	T	0.176248	0.52612	T	-0.481025	0.00729	T	-0.618217	0.11324	T	0.0233574884094234	0.01065	T	0.340666	0.07366	T	0.04103882	0.05971	0.038455956	0.03719	0.04103882	0.05971	0.038455956	0.03719	-4.17	0.26316	T	.	.	0.092	0.13690	B	.	.	0.238820	0.06193	2.642	0.98150615864813973	0.38688	0.29246	0.23771	N	AEFBHI	0.137749	0.25883	N	-1.05405934216212	0.07508	0.3490085	-1.07420564124523	0.08211	0.4026964	0.376307866395745	0.19918	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.35	-1.94	0.07158	2.043000	0.40854	0.142000	0.15184	0.676000	0.76740	0.053000	0.21524	0.000000	0.08366	0.001000	0.02609	0.3403:0.1143:0.4281:0.1174	2.232	0.03753	498	0.76166	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.008772	0.000000	0.000000	0.003049	0.000000	0.05263	2673.83	41	chr6	26108071	.	G	A	2673.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.424;DP=886;ExcessHet=0.119;FS=7.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.269;SOR=1.271	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	17	0	2	0
chr6	26198985	26198985	C	T	exonic	H2AC7	.	nonsynonymous SNV	H2AC7:NM_021065:exon1:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.243836131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000643	0.42656	U	0.000000	1	0.81001	D	4.38	0.98579	H	-1.33	0.79854	T	-3.5	0.68178	D	0.469	0.60156	0.839	0.94897	D	0.778	0.92457	D	10	0.92765284	0.92110	D	0.243836	0.88818	D	0.759	0.91795	0.792	0.91365	0.879523181035	0.87834	0.32191273444187773	0.32104	0.395548173852	0.40695	0.899270951748	0.96359	D	0.394837	0.75387	T	0.296489	0.82686	D	0.18811	0.82462	D	0.998436748981476	0.94140	D	0.970803	0.89686	D	0.8462044	0.87056	0.8541044	0.91780	0.8462044	0.87058	0.8541044	0.91780	-11.617	0.82936	D	.	.	0.982	0.97401	P	.;.;.	.;.;.	4.265032	0.64845	24.8	0.99573985666592024	0.72561	0.62671	0.31852	D	ALL	0.567045	0.57278	D	0.783509423480026	0.85064	8.46597	0.593108010027542	0.74444	6.138226	1.0	0.98316	0.006267	0.00052	3	0.093493	0.02558	3	0.166054	0.03999	2	0.249971	0.05119	0	.	.	4.82	3.95	0.44952	4.892000	0.62883	1.127000	0.24293	0.594000	0.32500	1.000000	0.71638	0.976000	0.30059	0.302000	0.24547	0.0:0.9178:0.0:0.0822	12.486	0.55218	689	0.59000	.;.;Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3167.33	34	chr6	26198985	.	C	T	3167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.376;DP=1157;ExcessHet=0;FS=2.132;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.037;SOR=0.851	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	0	1	0
chr6	26234378	26234380	CTT	-	exonic	H1-3	.	nonframeshift deletion	H1-3:NM_005320:exon1:c.554_556del:p.K185_A186delinsT	.	430	1089	3	0	0	3	0.00137552	.	.	.	2822783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0084	0.00519169	0.0057	0.0094	0.0020	0	0.0138	0.0065	0.0044	0.0030	0.0031889	83	26028	rs199868143	0.0059	0.0059	0.0058	0.0060	0.0092	0.0058	0.0057	0.0084	0.0080	0.0092	0.0020	0.0128	7.557e-05	0.0149	0.0024	0.0058	0.0053	0.0029	0.0073	0.0073	0.0070	0.0075	0.0089	0.0069	0.0068	0.0081	0.0078	0.0089	0.0011	0.0044	0.0124	0.0015	0.0132	0.0068	0.0065	0.0043	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.000000	0.02632	1752.29	93	chr6	26234377	.	GCTT	G	1752.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.917;DP=718;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-2.041;SOR=0.57	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr6	26374361	26374361	-	GCCTGATGCTCT	exonic	BTN3A2	.	stopgain	BTN3A2:NM_001197246:exon7:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX,BTN3A2:NM_001197248:exon7:c.930_931insGCCTGATGCTCT:p.S310delinsSAX,BTN3A2:NM_001197249:exon8:c.873_874insGCCTGATGCTCT:p.S291delinsSAX,BTN3A2:NM_001197247:exon9:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX,BTN3A2:NM_007047:exon9:c.999_1000insGCCTGATGCTCT:p.S333delinsSAX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	354.29	38	chr6	26374361	.	A	AGCCTGATGCTCT	354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.975;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.634;SOR=0.593	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,779	18	0	1	0
chr6	26413667	26413667	C	T	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon10:c.C1361T:p.T454M,BTN3A1:NM_007048:exon10:c.C1517T:p.T506M	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0116492911351	.	0.000199681	8.25e-05	0.0002	0	0.0002	0	3.002e-05	0	0.0002	7.12e-05	11	154602	rs536232321	4.791e-05	4.788e-05	4.086e-05	5.503e-05	0.0005	3.862e-05	3.542e-05	0.0003	0.0003	5.989e-05	0	0	0.0005	0.0002	0.0002	1.439e-05	9.942e-05	0.0002	5.253e-05	5.25e-05	5.14e-05	5.372e-05	0.0002	2.556e-05	1.829e-05	3.244e-05	1.911e-05	9.628e-05	0	0	0	0.0002	9.42e-05	0	2.94e-05	0	0	0.008	0.58626	D	0.038	0.51421	D	0.997	0.70673	D	0.903	0.64103	P	.	.	.	.	1	0.08975	N	2.05	0.56469	M	0.09	0.61443	T	-1.7	0.40468	N	0.161	0.16864	-0.9351	0.43379	T	0.175	0.51864	T	9	0.10619426	0.19667	T	0.011649	0.29486	T	0.170	0.43303	.	.	0.678173853058	0.67544	0.0986611304537531	0.09797	0.335863676792	0.35593	0.331522762775	0.15165	T	0.008821	0.08068	T	-0.378078	0.03203	T	-0.48871	0.23526	T	0.0886221487229361	0.11053	T	0.857514	0.54691	D	0.032826878	0.03383	0.061109558	0.11748	0.032826878	0.03383	0.061109558	0.11748	-8.18	0.62586	D	.	.	0.162	0.35849	B	.;.	.;.	1.751373	0.22283	15.56	0.99667866187713838	0.78394	0.02317	0.06644	N	AEFDBI	0.054261	0.09850	N	-0.448241923225378	0.23800	1.280647	-0.764021874940492	0.15378	0.8084955	0.999935916557642	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	2.31	-1.72	0.07671	-2.723000	0.00880	-20.000000	0.00162	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.321000	0.24994	0.204:0.3151:0.3261:0.1548	1.096	0.01570	680	0.59965	B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	33	chr6	26413667	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1035;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.735;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	0	1	0
chr6	26451918	26451918	G	T	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.G632T:p.G211V,BTN3A3:NM_197974:exon10:c.G1115T:p.G372V,BTN3A3:NM_006994:exon11:c.G1262T:p.G421V	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00519169	0.0022	0.0173	0.0012	0	0.0008	0.0009	0.0011	0.0002	0.0022315	345	154602	rs149823309	0.0013	0.0016	0.0013	0.0012	0.0168	0.0012	0.0012	0.0157	0.0152	0.0168	0.0011	3.827e-05	0.0002	0.0005	0.0002	0.0010	0.0015	0.0002	0.0049	0.0051	0.0055	0.0044	0.0156	0.0046	0.0045	0.0147	0.0143	0.0156	0	0.0010	0	0	0	0	0.0012	0.0024	0	0.001	0.91255	D	0.029	0.54541	D	0.013	0.16609	B	0.017	0.18140	B	.	.	.	.	0.650863	0.30534	N	1.915	0.51223	L	-0.54	0.70950	T	-4.97	0.83625	D	0.107	0.15469	-0.9555	0.40006	T	0.154	0.48498	T	9	0.003355354	0.00058	T	.	.	.	0.129	0.35316	.	.	0.628695536755	0.62566	0.222583584877344	0.22173	0.0418348922505	0.04497	0.229516580701	0.01932	T	0.24274	0.61153	T	-0.426227	0.01563	T	-0.371397	0.36725	T	0.0352866086039991	0.02857	T	0.358264	0.08365	T	0.36152196	0.57952	0.4591285	0.68578	0.36152196	0.57953	0.4591285	0.68578	-6.77	0.52336	T	.	.	0.105	0.19316	B	.;.	.;.	1.301151	0.17030	12.92	0.94414639390753574	0.24815	0.21181	0.21310	N	AEFGBI	0.175290	0.30246	N	-0.893019700307879	0.11007	0.5289368	-0.978347833717179	0.10273	0.5162896	0.999962974030529	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.94	1.06	0.19341	0.785000	0.26491	-1.030000	0.06551	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.882000	0.42233	0.1179:0.0:0.6886:0.1936	5.619	0.16725	667	0.61242	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1810.33	38	chr6	26451918	.	G	T	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=788;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.85;MQRankSum=-4.909;QD=11.68;ReadPosRankSum=-0.482;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1410	18	0	1	0
chr6	26463393	26463393	A	G	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon3:c.A397G:p.M133V,BTN2A1:NM_001197234:exon4:c.A580G:p.M194V,BTN2A1:NM_007049:exon4:c.A580G:p.M194V,BTN2A1:NM_078476:exon4:c.A580G:p.M194V	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0048	0.00479233	0.0027	0.0090	0.0031	0.0002	0	0.0025	0.0044	0.0017	0.0026908	416	154602	rs142951857	0.0023	0.0023	0.0023	0.0024	0.0100	0.0023	0.0022	0.0092	0.0088	0.0100	0.0044	0.0275	7.557e-05	1.872e-05	0.0043	0.0016	0.0041	0.0016	0.0045	0.0045	0.0042	0.0047	0.0086	0.0042	0.0041	0.0079	0.0076	0.0086	0	0.0067	0.0256	0	0	0.0136	0.0016	0.0043	0.0017	0.779	0.32453	T	0.514	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.976613	0.07813	N	1.011740	1	0.08975	N	-0.395	0.03011	N	-0.87	0.74583	T	0.45	0.03191	N	0.049	0.02088	-1.0319	0.19841	T	0.039	0.16935	T	10	0.0032421052	0.00055	T	.	.	.	0.077	0.22490	.	.	0.18995819373	0.18626	0.17815481248216478	0.17734	0.0682658343424	0.07644	0.227097988129	0.01760	T	2.24E-4	0.00045	T	-0.529599	0.00386	T	-0.525975	0.19691	T	0.0018171477931748	0.00018	T	0.0768923	0.00566	T	0.1547285	0.35006	0.04013307	0.04266	0.1547285	0.35005	0.04013307	0.04266	-1.826	0.04316	T	.	.	0.059	0.00904	B	.;.;.;.	.;.;.;.	-0.535722	0.01757	0.133	0.28122043562808563	0.01429	0.03036	0.07924	N	AEFDBI	0.039652	0.05791	N	-1.2925197450257	0.03764	0.1687493	-1.26445586257887	0.04920	0.2332508	0.99956428555063	0.40425	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.88	1.71	0.23429	-0.546000	0.06152	-0.996000	0.06663	-0.093000	0.16093	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6131:0.2488:0.138:0.0	3.167	0.06149	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.002717	0.011696	0.000000	0.000000	0.009146	0.000000	0.02632	1997.33	45	chr6	26463393	.	A	G	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.864;DP=798;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.627;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr6	26468201	26468201	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1053C:p.E351D,BTN2A1:NM_007049:exon8:c.G1236C:p.E412D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.018966421531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.211	0.26631	T	0.998	0.73220	D	0.976	0.73562	D	0.000092	0.51296	D	0.000000	1	0.08975	N	0.49	0.13296	N	-0.36	0.68754	T	-1.5	0.36586	N	0.068	0.04072	-0.8898	0.48952	T	0.226	0.59045	T	10	0.12924948	0.24591	T	0.018966	0.41201	T	0.146	0.38789	0.353	0.35246	0.392395365052	0.38849	0.1890947976805061	0.18827	0.0878000191581	0.09913	0.361539572477	0.19610	T	0.007996	0.07364	T	-0.212128	0.19080	T	-0.542484	0.18052	T	0.37070307135582	0.27824	T	0.0461954	0.00328	T	0.18370253	0.39651	0.12016162	0.29000	0.18370253	0.39651	0.12016162	0.28999	-5.348	0.40415	T	.	.	0.115	0.24833	B	.;.	.;.	1.653848	0.21100	15.05	0.98235129725680093	0.39431	0.16426	0.19383	N	AEFDBI	0.142318	0.26473	N	-0.466510824700501	0.23184	1.243201	-0.612477932372553	0.19173	1.027489	0.999878066652012	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	-0.887000	0.04260	0.127000	0.14995	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.0:1.0:0.0	11.481	0.49570	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	276.33	40	chr6	26468201	.	G	C	276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.05;DP=1393;ExcessHet=0;FS=129.851;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.46;SOR=8.581	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	562.16	40	chr6	26468202	.	G	C	562.16	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.473;DP=2850;ExcessHet=0.119;FS=174.636;InbreedingCoeff=-0.1351;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=2.08;SOR=9.883	GT:AD:DP:GQ:PL	./.:171,0:171:0:0,0,3752	12	0	2	5
chr6	27309586	27309586	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C2585T:p.T862I	.	433	1052	37	0	0	37	0.0172816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0026	0.0165735	0.0172	0.0055	0.0171	0.0689	0	0.004	0.0081	0.0351	0.0036675	567	154602	rs61736085	0.0049	0.0047	0.0039	0.0059	0.0380	0.0048	0.0048	0.0368	0.0364	0.0077	0.0034	0.0067	0.0277	0.0003	0.0181	0.0016	0.0079	0.0380	0.0068	0.0068	0.0059	0.0078	0.0493	0.0065	0.0063	0.0443	0.0424	0.0075	0	0.0049	0.0052	0.0493	9.413e-05	0.0204	0.0022	0.0095	0.0410	0.08	0.33585	T	0.157	0.31730	T	.	.	.	.	.	.	0.750715	0.06482	N	1.192050	1	0.08975	N	2.31	0.66127	M	1.94	0.22678	T	-3.96	0.73579	D	0.021	0.00339	-0.9927	0.31906	T	0.025	0.10821	T	10	0.0025785863	0.00039	T	.	.	.	0.053	0.14996	.	.	.	.	0.09442524287904627	0.09374	.	.	0.286457151175	0.08408	T	0.060114	0.31298	T	-0.617389	0.00114	T	-0.60616	0.12300	T	0.0144042638989973	0.00290	T	0.264874	0.04312	T	0.15821517	0.35606	0.138636	0.33103	0.15821517	0.35606	0.138636	0.33102	-5.234	0.39285	T	.	.	0.182	0.39579	B	.	.	0.693605	0.10624	7.325	0.9853379159390856	0.42632	0.08827	0.14698	N	AEFDBI	0.060227	0.11432	N	-0.512844785655832	0.21664	1.151367	-0.55143704410757	0.20768	1.120442	5.05736796047831E-4	0.07176	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.85	2.96	0.33383	1.653000	0.36940	1.215000	0.24935	0.526000	0.24426	0.035000	0.20724	0.001000	0.17328	0.043000	0.14563	0.1165:0.0:0.8835:0.0	7.758	0.28103	624	0.65661	.	.	.	.	.	rs61736085	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019512	0.005319	0.031250	0.052632	0.083333	0.000000	0.000000	0.034884	0.02632	1894.33	34	chr6	27309586	.	G	A	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.674;DP=1013;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.821;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	164.05	60	chr6	27310582	.	G	A	164.05	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.088;DP=1407;ExcessHet=0.3672;FS=321.847;InbreedingCoeff=-0.157;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=-0.608;SOR=9.065	GT:AD:DP:GQ:PL	0/0:62,0:62:71:0,71,1317	12	0	3	4
chr6	27452919	27452919	T	C	exonic	ZNF184	.	nonsynonymous SNV	ZNF184:NM_001318891:exon6:c.A640G:p.N214D,ZNF184:NM_001318892:exon6:c.A640G:p.N214D,ZNF184:NM_001318893:exon6:c.A412G:p.N138D,ZNF184:NM_001347832:exon6:c.A412G:p.N138D,ZNF184:NM_007149:exon6:c.A640G:p.N214D	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00415090661886	0.0023	0.000998403	0.0027	0.0004	0.0026	0.0001	0.0003	0.0040	0.0033	0.0008	0.0024579	380	154602	rs45553937	0.0026	0.0026	0.0026	0.0025	0.0064	0.0025	0.0025	0.0048	0.0042	0.0003	0.0025	0.0392	0.0001	0.0003	0.0064	0.0020	0.0044	0.0008	0.0024	0.0024	0.0024	0.0025	0.0031	0.0022	0.0022	0.0024	0.0022	0.0003	0	0.0031	0.0369	0.0002	0.0005	0.0204	0.0023	0.0028	0.0012	0.688	0.04328	T	0.955	0.02582	T	0.017	0.17573	B	0.028	0.21332	B	0.975102	0.08132	N	0.986436	0.999998	0.08975	N	1.545	0.39105	L	5.45	0.00969	T	-0.64	0.18670	N	0.044	0.01740	-0.9946	0.31405	T	0.001	0.00287	T	10	0.002562642	0.00039	T	0.004151	0.09963	T	0.012	0.01476	.	.	0.325263233342	0.32141	0.03270394840070504	0.03218	0.515687455272	0.49472	0.2948589921	0.09637	T	0.007646	0.07043	T	-0.726694	0.00025	T	-0.820925	0.01434	T	0.000551955132253572	0.00005	T	0.0148485	0.00082	T	0.04755835	0.08147	0.04479653	0.05882	0.04755835	0.08147	0.04479653	0.05882	-2.922	0.09365	T	.	.	0.073	0.04847	B	.;.	.;.	1.200642	0.15930	12.20	0.83786305542268558	0.14919	0.00056	0.00418	N	AEFBHCI	0.049896	0.08668	N	-1.00314883878431	0.08538	0.4007048	-1.01047641955182	0.09554	0.4760061	0.081731218793686	0.15882	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.85	0.172	0.14317	0.099000	0.15047	1.588000	0.27514	0.519000	0.23678	0.000000	0.06391	0.131000	0.23000	0.979000	0.57723	0.0:0.3309:0.2033:0.4658	5.220	0.14685	568	0.70638	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.010101	0.002717	0.005848	0.000000	0.025862	0.003049	0.000000	0.02632	2113.33	33	chr6	27452919	.	T	C	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.06;DP=797;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.168;SOR=0.392	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr6	27838197	27838197	G	T	exonic	H2AC15	.	nonsynonymous SNV	H2AC15:NM_003510:exon1:c.C143A:p.A48E	.	421	1064	37	0	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610	.	0.0043	0.0197684	0.0132	0.0089	0.0019	0.0841	0.0027	0.0021	0.0055	0.0363	0.0117463	1816	154602	rs149494377	0.0063	0.0063	0.0053	0.0073	0.0739	0.0062	0.0061	0.0717	0.0707	0.0073	0.0025	0.0054	0.0739	0.0022	0.0191	0.0016	0.0079	0.0376	0.0075	0.0075	0.0064	0.0086	0.0637	0.0071	0.0070	0.0580	0.0558	0.0075	0	0.0039	0.0046	0.0637	0.0031	0.0204	0.0024	0.0080	0.0420	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.008597	0.30766	U	0.000000	0.998695	0.45291	D	.	.	.	.	.	.	.	.	.	0.365	0.40665	-0.1896	0.77938	T	0.378	0.73513	T	7	0.0067465603	0.00153	T	.	.	.	.	.	.	.	.	.	0.5921012568740528	0.59140	.	.	0.816349625587	0.84469	D	.	.	.	0.252424	0.78829	D	0.651502	0.98081	D	0.0943258828371965	0.11720	T	0.840716	0.51609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.883783	0.56469	23.7	0.98174350039147362	0.38890	0.96938	0.71764	D	AEFGBHCIJ	0.945340	0.95353	D	0.376379719291116	0.60143	4.200257	0.385374392414292	0.60660	4.256337	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.42	4.42	0.52775	9.467000	0.96833	5.411000	0.48538	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.0:0.0:1.0:0.0	16.887	0.85945	464	0.78488	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.010101	0.023098	0.038012	0.050000	0.017241	0.006098	0.045455	0.02632	2669.33	36	chr6	27838197	.	G	T	2669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=829;ExcessHet=0;FS=2.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.18;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	18	0	1	0
chr6	27865460	27865460	C	T	exonic	H2AC16	.	nonsynonymous SNV	H2AC16:NM_003511:exon1:c.C106T:p.R36C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.005316284863	.	0.000199681	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs576189710	8.688e-05	8.687e-05	5.173e-05	0.0001	0.0013	7.421e-05	6.97e-05	0.0011	0.0010	0	0	0	0	0	0.0009	9.893e-06	0	0.0013	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	0	0	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.007581	0.31319	U	0.000000	0.998781	0.45440	D	.	.	.	.	.	.	.	.	.	0.473	0.50868	-0.8805	0.49722	T	0.126	0.43236	T	7	0.04359317	0.03225	T	0.005316	0.13587	T	.	.	.	.	0.235664433957	0.23186	0.20928459393336907	0.20844	.	.	0.842448294163	0.88468	D	.	.	.	-0.0653304	0.42072	T	0.0980027	0.76775	D	0.257442534046546	0.23203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.90137	P	.	.	3.917177	0.57168	23.8	0.99592605522719768	0.73690	0.03428	0.08560	N	ALL	0.430150	0.49297	N	0.0453538418963781	0.43928	2.676342	0.0334121989157332	0.41277	2.477171	0.999999999998336	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	4.89	4.02	0.45968	1.404000	0.34232	0.600000	0.19915	0.596000	0.33519	0.701000	0.28635	0.025000	0.21018	0.134000	0.19723	0.1614:0.7555:0.0:0.0832	7.712	0.27849	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4746.33	33	chr6	27865460	.	C	T	4746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=1099;ExcessHet=0;FS=2.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.043;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr6	27873204	27873204	C	T	exonic	H4C13	.	nonsynonymous SNV	H4C13:NM_003546:exon1:c.G307A:p.G103S	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	.	0.0039	0.00339457	0.0068	0.0010	0.0012	0.0001	0.0048	0.0102	0.0079	0.0044	0.0064488	997	154602	rs45526033	0.0063	0.0063	0.0062	0.0063	0.0101	0.0062	0.0061	0.0080	0.0073	0.0010	0.0017	0.0119	0	0.0066	0.0101	0.0069	0.0057	0.0035	0.0048	0.0048	0.0050	0.0047	0.0074	0.0045	0.0044	0.0069	0.0067	0.0012	0.0230	0.0032	0.0104	0	0.0041	0.0204	0.0074	0.0033	0.0037	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999741	0.48716	D	.	.	.	.	.	.	.	.	.	0.653	0.66358	-0.4222	0.71319	T	0.312	0.68264	T	6	0.007812321	0.00177	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.6635360055952264	0.66290	.	.	0.73140925169	0.71713	T	0.059698	0.31187	T	-0.0568513	0.43396	T	0.151958	0.80307	D	0.0600398676424806	0.07176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.524533	0.49421	22.8	0.99048207168593982	0.51185	0.95945	0.66836	D	ALL	0.862432	0.78072	D	0.270502246397553	0.54660	3.631068	0.266824308157461	0.53611	3.52935	0.999999999999999	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.171818	0.04044	3	0.249971	0.05119	0	.	.	4.49	4.49	0.54177	7.365000	0.78793	3.709000	0.39550	0.594000	0.32500	1.000000	0.71638	0.994000	0.32194	0.024000	0.12247	0.0:1.0:0.0:0.0	16.667	0.85114	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.015152	0.008152	0.026316	0.000000	0.025862	0.003049	0.000000	0.02632	2874.33	34	chr6	27873204	.	C	T	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.588;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=-0.734;SOR=0.672	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.02632	1649.33	33	chr6	27957616	.	A	G	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.059;DP=808;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.272;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr6	28129606	28129606	C	T	exonic	ZSCAN16	.	stopgain	ZSCAN16:NM_001320555:exon4:c.C703T:p.R235X,ZSCAN16:NM_001320556:exon4:c.C616T:p.R206X,ZSCAN16:NM_025231:exon4:c.C703T:p.R235X	.	429	1085	7	1	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0013	0	0.0003	0	0	0.0001	0.0044	0.0090	0.0011578	179	154602	rs200631257	0.0006	0.0006	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0085	0.0001	4.472e-05	0	7.557e-05	0	0.0005	3.687e-05	0.0006	0.0093	0.0004	0.0004	0.0003	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	7.227e-05	0	0	0	0	0	0.0034	2.94e-05	0.0005	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	0.816235	0.09213	N	0.872656	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154261	0.69667	D	0.455064	0.93703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.882010	0.95863	35	0.99804578601010052	0.88906	0.71194	0.34909	D	AEFBI	0.034873	0.04394	N	0.328573393596308	0.57618	3.930036	0.0584986529199333	0.42484	2.570456	0.999988565152581	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.38	2.59	0.30091	0.828000	0.27088	0.078000	0.14353	0.549000	0.26987	0.001000	0.13787	0.011000	0.20116	0.984000	0.60418	0.0:0.8044:0.0:0.1956	8.062	0.29801	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1415.33	38	chr6	28129606	.	C	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.547;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=2.39;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr6	28260114	28260114	C	A	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C743A:p.S248Y	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00239617	0.0043	0.0002	0.0005	0	0	6.959e-05	0.0037	0.0282	0.0030983	479	154602	rs377279849	0.0016	0.0017	0.0007	0.0026	0.0285	0.0016	0.0015	0.0275	0.0271	0	0	0	0	0	0.0012	9.051e-06	0.0006	0.0285	0.0007	0.0007	0.0003	0.0011	0.0220	0.0006	0.0005	0.0186	0.0174	0	0	0	0	0	0	0	0	0	0.0220	0.514	0.07401	T	0.03	0.54159	D	0.006	0.13644	B	0.005	0.11217	B	0.000082	0.00436	N	38.570000	0.966269	0.38519	D	1.5	0.37844	L	2.49	0.14531	T	-3.34	0.66325	D	0.139	0.13769	-0.9571	0.39717	T	0.012	0.04747	T	10	0.0026673973	0.00041	T	.	.	.	0.076	0.22200	.	.	0.0666544352282	0.05500	0.192862456312426	0.19204	0.555486334533	0.52246	0.312239766121	0.12245	T	0.053539	0.29470	T	-0.666268	0.00058	T	-0.708875	0.05353	T	0.0343689718998629	0.02701	T	0.316468	0.06291	T	0.13378544	0.31105	0.14381708	0.34165	0.13378544	0.31105	0.14381708	0.34164	-6.062	0.46795	T	.	.	0.086	0.10787	B	.	.	1.309856	0.17126	12.98	0.76940388349203215	0.11671	0.81260	0.40701	D	AEFDBI	0.154988	0.28011	N	-0.65836251679759	0.17217	0.8840706	-0.670536542136449	0.17700	0.9422749	0.355655533109289	0.19727	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.21	-0.281	0.12244	0.507000	0.22383	-0.216000	0.10808	0.599000	0.40250	0.268000	0.25027	0.000000	0.08366	0.642000	0.32476	0.3475:0.2971:0.2637:0.0917	2.436	0.04210	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.022727	0.02632	1377.33	33	chr6	28260114	.	C	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=1102;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.302;SOR=0.652	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,119,1800	18	0	1	0
chr6	28272748	28272748	C	T	exonic	ZSCAN26	.	nonsynonymous SNV	ZSCAN26:NM_001023560:exon3:c.C499T:p.R167W,ZSCAN26:NM_001111039:exon3:c.C496T:p.R166W,ZSCAN26:NM_001287421:exon3:c.C94T:p.R32W,ZSCAN26:NM_152736:exon3:c.C94T:p.R32W	.	423	1062	35	2	0	39	0.0180305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00439297	0.0063	0.0001	0.0005	0.0010	0.0002	0.0022	0.0063	0.0377	0.005097	788	154602	rs187327081	0.0037	0.0037	0.0029	0.0046	0.0317	0.0036	0.0036	0.0307	0.0303	0.0002	0.0008	0.0031	0.0003	0.0007	0.0083	0.0021	0.0031	0.0317	0.0021	0.0021	0.0016	0.0026	0.0263	0.0019	0.0018	0.0226	0.0212	0.0003	0	0.0010	0.0023	0.0008	0.0004	0	0.0020	0.0024	0.0263	.	.	.	0.012	0.69154	D	0.733	0.42736	P	0.12	0.32230	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24385	.	.	.	.	.	.	.	0.0033355355	0.00058	T	.	.	.	.	.	.	.	0.176091768786	0.17195	0.1230217323724493	0.12228	.	.	0.178530722857	0.00081	T	0.031673	0.22488	T	-0.357918	0.04248	T	-0.263216	0.48501	T	.	.	.	0.663034	0.31953	T	0.1252649	0.29369	0.122121446	0.29459	0.1252649	0.29369	0.122121446	0.29459	-4.383	0.29326	T	.	.	0.090	0.34449	B	.;.;.;.;.;.	.;.;.;.;.;.	2.663748	0.34712	19.70	0.78118967839709064	0.12163	0.31810	0.24431	N	AEFBI	.	.	.	.	.	.	.	.	.	0.382626342035467	0.19974	0.322412	0.05557	0	0.156173	0.03658	0	0.331037	0.05861	0	0.221052	0.04502	0	0.0967074	0.21669	4.04	3.17	0.35510	3.580000	0.53652	0.371000	0.17677	-0.202000	0.08738	0.018000	0.19461	0.000000	0.08366	0.477000	0.28498	0.0:0.8847:0.0:0.1153	7.767	0.28149	509	0.75304	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.007576	0.07895	1438.79	33	chr6	28272748	.	C	T	1438.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.245;DP=739;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.14;SOR=0.716	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1215	16	0	3	0
chr6	28329502	28329502	C	T	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001243241:exon2:c.G182A:p.R61Q,ZSCAN31:NM_030899:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001135215:exon6:c.G182A:p.R61Q,ZSCAN31:NM_145909:exon6:c.G182A:p.R61Q	.	427	1062	31	2	0	35	0.0162112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00419329	0.0057	0.0002	0.0011	0.0012	0.0015	0.0030	0.0066	0.0274	0.0051616	798	154602	rs148156232	0.0043	0.0043	0.0035	0.0050	0.0273	0.0042	0.0042	0.0264	0.0260	0.0004	0.0017	0.0031	0.0004	0.0017	0.0087	0.0030	0.0034	0.0273	0.0028	0.0028	0.0025	0.0031	0.0220	0.0026	0.0025	0.0186	0.0174	0.0006	0	0.0014	0.0023	0.0010	0.0012	0.0034	0.0035	0.0033	0.0220	0.521	0.20988	T	0.194	0.28120	T	0.05	0.22331	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.455	0.36767	L	3.51	0.04959	T	-1.73	0.60188	N	0.141	0.15328	-0.9214	0.45362	T	0.005	0.01725	T	9	0.005136043	0.00111	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.1074141927531143	0.10670	0.521147091014	0.49897	0.332464814186	0.15307	T	0.001524	0.18905	T	-0.601051	0.00144	T	-0.615873	0.11513	T	0.0278578650942649	0.01668	T	0.372463	0.12997	T	0.03518133	0.04092	0.046788376	0.06597	0.03518133	0.04092	0.046788376	0.06597	-5.33	0.40239	T	.	.	0.142	0.33435	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.916082	0.12909	9.417	0.99814016910868308	0.89797	0.03359	0.08450	N	AEFBHCI	0.098848	0.19910	N	-0.859570190243696	0.11815	0.5722949	-0.925333904878234	0.11497	0.5860615	8.10275566706425E-4	0.07842	0.706298	0.61202	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.62	-1.16	0.09181	-0.221000	0.09208	-2.684000	0.03470	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.716000	0.34643	0.1307:0.2942:0.2577:0.3174	1.156	0.01685	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07895	4780.79	33	chr6	28329502	.	C	T	4780.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.2;DP=999;ExcessHet=0.3672;FS=0.523;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.557;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1385	16	0	3	0
chr6	28435906	28435906	T	C	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon2:c.A361G:p.T121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00108397699204	.	0.000798722	0.0008	0	0.0003	0.0001	0	9.191e-05	0.0012	0.0055	0.0006339	98	154602	rs369000893	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0038	0	0.0007	0.0009	2.519e-05	0	0.0003	2.339e-05	0.0005	0.0044	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0.0003	0.0009	0	0	0	2.941e-05	0	0.0052	0.237	0.17881	T	0.127	0.35082	T	0.003	0.11197	B	0.003	0.08700	B	0.133222	0.18558	N	0.440957	1	0.08975	N	0.48	0.13178	N	3.44	0.05375	T	-2.73	0.58085	D	0.126	0.11912	-0.9278	0.44458	T	0.003	0.00832	T	10	0.007630825	0.00173	T	0.001084	0.01263	T	0.072	0.21020	.	.	0.250039746154	0.24611	0.16612402364398482	0.16532	0.255294500027	0.28121	0.462987750769	0.33720	T	0.02166	0.16829	T	-0.711602	0.00031	T	-0.79454	0.02042	T	0.0112087393638528	0.00165	T	0.391661	0.09743	T	0.08947653	0.20906	0.07341964	0.15953	0.08947653	0.20906	0.07341964	0.15953	-3.845	0.21478	T	.	.	0.119	0.24363	B	.	.	0.882319	0.12556	9.084	0.92495483802694345	0.21931	0.01064	0.03948	N	AEFBI	0.043401	0.06855	N	-1.06657423351384	0.07266	0.337027	-1.06001535151735	0.08498	0.4181905	0.00441953795529767	0.10545	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.62	-0.255	0.12346	-0.259000	0.08742	-2.175000	0.04103	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2379:0.2195:0.5426	3.407	0.06921	624	0.65661	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1853.33	39	chr6	28435906	.	T	C	1853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=861;ExcessHet=0;FS=3.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.641;SOR=0.613	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr6	28529562	28529562	G	A	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.G199A:p.V67I,GPX5:NM_003996:exon2:c.G199A:p.V67I	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00459265	0.0061	0.0011	0.0036	0.0117	0.0023	0.0068	0.0022	0.0070	0.0058925	911	154602	rs115051243	0.0051	0.0051	0.0048	0.0053	0.0104	0.0050	0.0050	0.0083	0.0075	0.0010	0.0041	0.0116	0.0054	0.0017	0.0104	0.0051	0.0057	0.0057	0.0044	0.0044	0.0044	0.0044	0.0081	0.0041	0.0040	0.0062	0.0058	0.0007	0	0.0043	0.0101	0.0081	0.0022	0.0068	0.0065	0.0061	0.0033	0.286	0.49117	T	0.165	0.92824	T	0.113	0.26349	B	0.118	0.32088	B	0.018170	0.27545	N	0.332419	0.997416	0.43869	D	2.335	0.66956	M	3.53	0.04852	T	-0.63	0.24898	N	0.309	0.39558	-1.1246	0.02060	T	0.044	0.18989	T	10	0.011705905	0.00255	T	.	.	.	0.111	0.31313	.	.	0.341460817117	0.33762	0.3074882919353545	0.30661	0.222269639404	0.24763	0.494943112135	0.38125	T	0.197752	0.55452	T	-0.482461	0.00715	T	-0.456403	0.26993	T	0.062341605650971	0.07533	T	.	.	.	0.070417956	0.15508	0.1399863	0.33383	0.070417956	0.15508	0.1399863	0.33382	-9.905	0.73341	D	.	.	0.124	0.26232	B	.;.	.;.	2.594325	0.33663	19.41	0.99857656066966582	0.93639	0.90399	0.51544	D	AEFBI	0.435410	0.49605	N	0.36256030562022	0.59407	4.119742	0.294472450407026	0.55217	3.684864	0.921980790944392	0.26692	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	2.84	0.32241	5.778000	0.68592	4.419000	0.43309	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1086:0.0:0.8914:0.0	9.439	0.37819	675	0.60470	.;.	.	.	.	.	rs115051243	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013115	0.005051	0.016304	0.005319	0.000000	0.017241	0.018405	0.019084	0.02632	993.33	33	chr6	28529562	.	G	A	993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=714;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.333;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	18	0	1	0
chr6	28529593	28529593	C	T	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.C230T:p.A77V,GPX5:NM_003996:exon2:c.C230T:p.A77V	.	437	1053	31	1	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0034201727032	0.0014	0.00159744	0.0028	0	0.0015	0.0003	0	0.0025	0.0067	0.0090	0.0023932	370	154602	rs145161873	0.0018	0.0018	0.0014	0.0021	0.0113	0.0017	0.0017	0.0091	0.0086	9.019e-05	0.0013	0.0291	0.0002	0	0.0113	0.0006	0.0038	0.0093	0.0013	0.0013	0.0013	0.0013	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0009	0.0254	0	0	0.0136	0.0006	0.0014	0.0089	0.653	0.19293	T	0.57	0.39190	T	0.068	0.23728	B	0.007	0.12992	B	0.841296	0.07001	N	1.076350	1	0.08975	N	-0.69	0.01958	N	3.12	0.08106	T	0.39	0.22508	N	0.146	0.25499	-0.9785	0.35345	T	0.004	0.01400	T	10	0.0074159503	0.00169	T	0.00342	0.07694	T	0.104	0.29647	.	.	0.197625483188	0.19356	0.1980378864844265	0.19720	0.14692160482	0.16579	0.291478693485	0.09137	T	0.027063	0.19900	T	-0.685696	0.00044	T	-0.750198	0.03478	T	0.025681993804498	0.01363	T	.	.	.	0.123513326	0.29001	0.1075086	0.25882	0.123513326	0.29001	0.1075086	0.25881	-3.861	0.35814	T	.	.	0.109	0.20702	B	.;.	.;.	1.372705	0.17831	13.39	0.95041436406744417	0.26048	0.01455	0.04870	N	AEFBI	0.035921	0.04701	N	-0.934270913760009	0.10048	0.4783497	-0.976882144630471	0.10305	0.5181954	0.304501700985108	0.19223	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	-0.199	0.12571	-0.098000	0.10993	-0.926000	0.06901	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.1861:0.3887:0.0:0.4252	3.265	0.06457	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009825	0.005051	0.009511	0.010638	0.050000	0.000000	0.009146	0.019231	0.05263	1295.83	33	chr6	28529593	.	C	T	1295.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.09;DP=740;ExcessHet=0.119;FS=3.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.357;SOR=1.089	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	17	0	2	0
chr6	29086320	29086320	A	G	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.T929C:p.F310S	.	436	1062	22	2	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00219649	0.0017	0.0001	8.783e-05	0.0008	0	0.0002	0.0037	0.0154	0.0014295	221	154602	rs191206751	0.0007	0.0008	0.0004	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	0	0.0001	0.0012	0.0005	0	0.0043	3.557e-05	0.0010	0.0105	0.0004	0.0004	0.0002	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	0	0	0.0001	0.0006	0.0012	0	0	4.41e-05	0	0.0089	0.503	0.07670	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	0.140344	0.18312	N	0.391760	1	0.08975	N	0.525	0.13617	N	1.28	0.35960	T	0.83	0.01787	N	0.117	0.10626	-0.9585	0.39461	T	0.015	0.05897	T	10	0.004331231	0.00088	T	.	.	.	0.076	0.22200	.	.	0.285698343383	0.28168	0.18730789579061616	0.18648	0.0216671538295	0.02158	0.430683046579	0.29302	T	0.010033	0.09096	T	-0.616412	0.00116	T	-0.650248	0.08936	T	0.00737898477049242	0.00085	T	.	.	.	0.09837459	0.23202	0.12191434	0.29411	0.09837459	0.23202	0.12191434	0.29410	-2.801	0.08193	T	.	.	0.080	0.07937	B	.	.	0.644532	0.10131	6.875	0.57257919906128119	0.05730	0.16656	0.19489	N	AEFI	0.034108	0.04168	N	-0.914908192281828	0.10493	0.5016755	-0.891293770706276	0.12300	0.6318825	3.50000745799198E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.15	1.98	0.25351	0.641000	0.24411	.	.	0.582000	0.30178	0.027000	0.20232	0.000000	0.08366	0.302000	0.24547	0.7447:0.0:0.2553:0.0	5.252	0.14843	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005991	0.000000	0.001359	0.037234	0.000000	0.000000	0.009146	0.003788	0.02632	773.33	34	chr6	29086320	.	A	G	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.262;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.43;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr6	29087019	29087019	G	A	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00178951095871	.	.	1.647e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs767546356	2.052e-06	2.052e-06	2.723e-06	1.375e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.684	0.04379	T	0.989	0.02371	T	0.034	0.20480	B	0.038	0.23361	B	0.022170	0.26687	U	0.174125	1	0.08975	N	0.01	0.07948	N	5.88	0.00632	T	-1.91	0.44471	N	0.077	0.05162	-0.9952	0.31245	T	0.000	0.00152	T	10	0.04743159	0.04060	T	0.00179	0.03063	T	0.055	0.15663	0.236	0.16608	0.297375071883	0.29337	0.22651449912282642	0.22566	0.0205895813288	0.02023	0.257685065269	0.04620	T	0.033019	0.22737	T	-0.471765	0.00829	T	-0.689733	0.06404	T	0.0444200623901237	0.04497	T	.	.	.	0.054559406	0.10483	0.12587725	0.30323	0.054559406	0.10483	0.12587725	0.30322	-4.602	0.32197	T	.	.	0.121	0.24967	B	.	.	0.937697	0.13134	9.634	0.36054590991674468	0.02298	0.01097	0.04030	N	AEFI	0.026261	0.01940	N	-0.874775260295911	0.11446	0.5523445	-0.739472399175385	0.15981	0.8432277	5.28764911934318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	3.02	0.33970	-0.520000	0.06338	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3021:0.0:0.6979:0.0	6.838	0.23132	754	0.51307	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	92.83	34	chr6	29087019	.	G	A	92.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.414;DP=1018;ExcessHet=0.119;FS=206.183;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=7.824	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr6	29355414	29355414	C	T	exonic	OR5V1	.	nonsynonymous SNV	OR5V1:NM_030876:exon2:c.G782A:p.R261Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00558273691578	.	.	1.65e-05	0	0	0.0001	0	0	0	6.062e-05	1.29e-05	2	154602	rs772202001	6.157e-06	6.156e-06	5.446e-06	6.876e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	3.827e-05	0	0	0	5.396e-06	0	2.319e-05	6.577e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.502	0.07695	T	0.105	0.38016	T	1.0	0.90584	D	0.969	0.72001	D	0.137514	0.18410	N	0.279943	1	0.08975	N	1.05	0.26816	L	1.21	0.37230	T	-2.37	0.52289	N	0.049	0.02088	-1.0713	0.09129	T	0.072	0.29323	T	10	0.2838565	0.45966	T	0.005583	0.14409	T	0.138	0.37187	0.574	0.69826	0.516938183928	0.51336	0.1654394655208138	0.16463	0.432008363034	0.43385	0.185063585639	0.00150	T	0.008998	0.08221	T	-0.217008	0.18403	T	-0.549494	0.17374	T	0.473208728383573	0.31649	T	.	.	.	0.043326966	0.06732	0.059810635	0.11287	0.043326966	0.06731	0.059810635	0.11286	-5.854	0.45042	T	.	.	0.131	0.28203	B	.;.;.	.;.;.	1.885698	0.23953	16.21	0.99534486592940119	0.70087	0.02549	0.07075	N	AEFBI	0.040429	0.06011	N	-0.196531345521509	0.33277	1.886193	-0.35636442881357	0.26312	1.452575	3.25288379356585E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	2.73	0.31266	-2.646000	0.00933	.	.	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7573:0.0:0.2427	9.584	0.38666	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	35	chr6	29355414	.	C	T	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=804;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.316;SOR=0.707	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1266	18	0	1	0
chr6	29461879	29461879	T	C	exonic	OR2H1	.	nonsynonymous SNV	OR2H1:NM_001318014:exon4:c.T110C:p.L37P,OR2H1:NM_001318022:exon4:c.T110C:p.L37P,OR2H1:NM_030883:exon4:c.T110C:p.L37P	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00279553	0.0024	0	0	0	0	0	0.0023	0.0170	0.0019922	308	154602	rs201061529	0.0010	0.0010	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	8.961e-05	2.236e-05	0	2.519e-05	0	0.0007	2.158e-05	0.0010	0.0151	0.0004	0.0004	0.0002	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0125	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.005732	0.32555	N	0.000000	0.997091	0.22793	N	3.395	0.91620	M	6.17	0.00578	T	-5.8	0.88148	D	0.511	0.56919	-1.0447	0.15913	T	0.007	0.02439	T	10	0.008962661	0.00203	T	.	.	.	0.122	0.33800	0.755	0.88484	0.45235992198	0.44860	0.6854977759366211	0.68488	0.0664068669372	0.07407	0.237037166953	0.02529	T	0.049636	0.28365	T	-0.369088	0.03640	T	-0.289972	0.45776	T	0.212762507989436	0.21097	T	.	.	.	0.86108226	0.88169	0.8124268	0.89055	0.86108226	0.88170	0.8124268	0.89055	-14.41	0.94313	D	.	.	0.222	0.45273	B	.;.;.;.	.;.;.;.	3.412708	0.47344	22.4	0.99602578077780457	0.74278	0.66663	0.33156	D	AEFDGBI	0.554335	0.56522	D	0.238636315447975	0.53079	3.478538	-0.0544899410692253	0.37296	2.181868	0.998833175102882	0.37777	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.88	2.88	0.32617	4.371000	0.59294	.	.	0.479000	0.22080	0.530000	0.27189	0.009000	0.19889	0.132000	0.19645	0.0:0.0:0.0:1.0	11.684	0.50735	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3652.33	39	chr6	29461879	.	T	C	3652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.673;DP=915;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-2.261;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr6	29462157	29462157	T	C	exonic	OR2H1	.	nonsynonymous SNV	OR2H1:NM_001318014:exon4:c.T388C:p.Y130H,OR2H1:NM_001318022:exon4:c.T388C:p.Y130H,OR2H1:NM_030883:exon4:c.T388C:p.Y130H	.	425	1060	34	3	0	40	0.0185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	0.0024	0.00299521	0.0052	0.0010	0.0017	0.0022	0.0014	0.0043	0.0057	0.0164	0.0043143	667	154602	rs143294075	0.0039	0.0039	0.0034	0.0044	0.0169	0.0038	0.0038	0.0161	0.0158	0.0002	0.0016	0.0015	0.0020	0.0014	0.0101	0.0034	0.0038	0.0169	0.0030	0.0030	0.0028	0.0031	0.0137	0.0027	0.0026	0.0111	0.0101	0.0004	0	0.0020	0.0026	0.0021	0.0008	0.0034	0.0044	0.0047	0.0137	0.0	0.91255	D	0.004	0.74150	D	0.441	0.35913	B	0.141	0.33616	B	0.002381	0.36688	N	0.000000	0.51767	0.31595	N	3.6	0.93737	H	1.41	0.33412	T	-4.81	0.80767	D	0.653	0.69125	-0.8914	0.48811	T	0.079	0.31526	T	10	0.006010264	0.00135	T	.	.	.	0.244	0.55061	.	.	0.413241256734	0.40943	0.25323395530577714	0.25237	0.325159186758	0.34672	0.400289595127	0.25109	T	0.029222	0.20989	T	-0.280956	0.10565	T	-0.162725	0.58106	T	0.106807893459721	0.13090	T	.	.	.	0.38118532	0.59402	0.527584	0.72705	0.38118532	0.59402	0.527584	0.72706	-8.022	0.61220	D	.	.	0.206	0.43200	B	.;.;.;.	.;.;.;.	2.935494	0.39014	20.9	0.99451139326584603	0.65274	0.97024	0.72250	D	AEFBI	0.740402	0.68466	D	0.243189176505392	0.53302	3.499782	0.177916497456782	0.48639	3.077151	0.995561244439635	0.34196	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	2.92	0.32998	7.046000	0.76310	.	.	0.479000	0.22080	1.000000	0.71638	0.009000	0.19889	0.439000	0.27649	0.0:0.0:0.0:1.0	11.745	0.51085	824	0.40336	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005991	0.000000	0.004076	0.005319	0.000000	0.000000	0.009146	0.011364	0.02632	2171.33	39	chr6	29462157	.	T	C	2171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.205;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr6	29486960	29486960	A	C	exonic	MAS1L	.	nonsynonymous SNV	MAS1L:NM_052967:exon1:c.T943G:p.F315V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00169303900075	.	.	8.25e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767271657	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.04	0.50809	D	0.472	0.36563	P	0.268	0.39801	B	.	.	.	.	0.993317	0.23734	N	1.6	0.40776	L	1.22	0.37052	T	-6.85	0.93097	D	0.162	0.17002	-1.0405	0.17162	T	0.034	0.14639	T	9	0.40483642	0.55820	T	0.001693	0.02805	T	0.159	0.41286	0.803	0.92160	0.0716867268079	0.06686	0.11464837880634492	0.11392	0.143592484051	0.16211	0.429545402527	0.29145	T	0.202825	0.56111	T	-0.149144	0.28447	T	-0.452012	0.27475	T	0.268199007206472	0.23670	T	.	.	.	0.11196092	0.26453	0.1972641	0.43498	0.11196092	0.26453	0.1972641	0.43497	-6.927	0.53499	T	.	.	0.245	0.47944	B	.	.	2.360764	0.30275	18.39	0.86070621541581094	0.16294	0.17805	0.19995	N	AEBI	0.055068	0.10066	N	-0.570583311937534	0.19843	1.041685	-0.668548954335902	0.17749	0.9451516	0.00967753474356065	0.11895	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	0.005000	0.13029	.	.	0.573000	0.29008	0.040000	0.20979	0.000000	0.08366	0.077000	0.17074	1.0:0.0:0.0:0.0	8.383	0.31644	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	36	chr6	29486960	.	A	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=799;ExcessHet=0;FS=7.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.315;SOR=1.313	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1270,0,1489	18	0	1	0
chr6	29556010	29556010	G	A	exonic	UBD	.	nonsynonymous SNV	UBD:NM_006398:exon2:c.C368T:p.T123M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0303205515385	0.0011	0.000399361	0.0004	0.0023	0.0002	0	0.0003	0.0003	0.0011	6.149e-05	0.0003169	49	154602	rs149806360	0.0002	0.0002	0.0003	0.0002	0.0021	0.0002	0.0002	0.0017	0.0016	0.0021	0.0002	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0	0.0003	0	0	0.0005	0	0.0002	0	0	0.005	0.63226	D	0.058	0.46182	T	0.998	0.73220	D	0.906	0.64351	P	0.052395	0.22898	U	0.213437	1	0.81001	D	2.74	0.80084	M	-0.92	0.75108	T	-2.16	0.48850	N	0.224	0.25130	-0.0415	0.81386	T	0.452	0.78603	T	10	0.02164343	0.00522	T	0.030321	0.52653	D	0.376	0.69443	.	.	0.738975683463	0.73664	0.24997169363866067	0.24911	0.612404357912	0.55836	0.539366364479	0.44355	T	0.151325	0.49121	T	-0.311165	0.07646	T	-0.226219	0.52136	T	0.0470319885480876	0.04971	T	.	.	.	0.1334185	0.31033	0.2080408	0.45089	0.1334185	0.31032	0.2080408	0.45088	-6.381	0.49361	T	.	.	0.112	0.21803	B	.	.	2.560059	0.33151	19.26	0.9982458830518165	0.90677	0.17331	0.19790	N	AEFDBI	0.146719	0.27023	N	0.25262861941152	0.53769	3.544	0.116300497824266	0.45383	2.802355	0.999998913052917	0.74766	0.625279	0.40028	0	0.0	0.00010	3	0.590023	0.30420	0	0.59522	0.37078	0	.	.	5.17	5.17	0.70848	2.733000	0.47032	.	.	0.654000	0.53741	0.171000	0.23947	0.917000	0.28245	0.017000	0.10941	0.0:0.0:1.0:0.0	14.174	0.65064	840	0.37365	Ubiquitin domain|Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2466.33	179	chr6	29556010	.	G	A	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.96;DP=2167;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.29;SOR=0.725	GT:AD:DP:GQ:PL	0/0:143,0:143:99:0,120,1800	18	0	1	0
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012527	0.000000	0.002717	0.053191	0.000000	0.008621	0.006098	0.034091	0.02632	2324.33	39	chr6	29588710	.	G	A	2324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=935;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.6;MQRankSum=-0.593;QD=14.44;ReadPosRankSum=-1.113;SOR=0.58	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr6	29724188	29724188	A	G	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098478:exon3:c.A350G:p.Q117R,HLA-F:NM_001098479:exon3:c.A350G:p.Q117R,HLA-F:NM_018950:exon3:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.000545157378686	0.0001	.	8.661e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs28628033	6.846e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	0.896	0.49324	P	0.814	0.66279	P	0.003688	0.34611	U	0.000000	1	0.29426	N	3.99	0.96693	H	8.3	0.00261	T	-3.64	0.70314	D	0.445	0.49874	-1.0611	0.11483	T	0.023	0.09741	T	10	0.3133424	0.48786	T	5.45E-4	0.00196	T	0.102	0.29158	.	.	0.273938319068	0.27005	0.7907556312582983	0.79027	1.37107048066	0.84535	0.30844861269	0.11672	T	0.31411	0.68582	T	-0.0488847	0.44617	T	-0.307996	0.43873	T	0.963096141815186	0.66558	D	0.570643	0.20320	T	0.850253	0.87354	0.80004877	0.88273	0.850253	0.87355	0.80004877	0.88273	-9.968	0.73804	D	.	.	0.501	0.67259	A	.;.;.;.	.;.;.;.	3.486053	0.48708	22.7	0.61852636814207151	0.06813	0.03185	0.08170	N	AEFDGBCI	0.085979	0.17432	N	0.0645039009909192	0.44813	2.748512	-0.321046226925983	0.27420	1.521362	0.999999888968716	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	1.63	1.63	0.22882	1.141000	0.31140	.	.	0.553000	0.28181	0.003000	0.16062	0.000000	0.08366	0.046000	0.14843	1.0:0.0:0.0:0.0	5.212	0.14642	856	0.34373	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	937.33	35	chr6	29724188	.	A	G	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.521;DP=779;ExcessHet=0;FS=3.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.765;SOR=1.153	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1105	18	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.07895	1369.79	130	chr6	29942795	.	C	T	1369.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.338;DP=2200;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.14;MQRankSum=-3.245;QD=3.32;ReadPosRankSum=3.5;SOR=0.618	GT:AD:DP:GQ:PL	0/0:129,15:144:36:0,36,4502	16	0	3	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R,HLA-A:NM_002116:exon2:c.A200G:p.Q67R	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041195	0.050505	0.065217	0.020000	0.050000	0.034483	0.012270	0.018939	0.02632	871.33	173	chr6	29942883	.	A	G	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=2252;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=-2.384;QD=8.89;ReadPosRankSum=-0.292;SOR=0.599	GT:AD:DP:GQ:PL	0/0:148,0:148:99:0,120,1800	18	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	17121.2	166	chr6	29942948	.	C	*	17121.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.31;DP=1939;ExcessHet=0.0278;FS=7.294;InbreedingCoeff=0.4154;MLEAC=2;MLEAF=0.053;MQ=58.43;MQRankSum=-2.807;QD=19.84;ReadPosRankSum=-0.141;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:94,0:128:99:0|1:29942939_C_G:1145,1428,5374:29942939	17	0	2	0
chr6	29943300	29943300	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G376C:p.D126H,HLA-A:NM_002116:exon3:c.G376C:p.D126H	.	0	1474	41	7	0	55	0.018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0023	0.00698882	0.0051	0.0010	0.0034	0.0081	0.0047	0.0043	0.0090	0.0095	0.0039391	609	154602	rs199474490	0.0044	0.0043	0.0039	0.0048	0.0188	0.0043	0.0042	0.0146	0.0131	0.0015	0.0042	0.0301	0.0069	0.0030	0.0188	0.0028	0.0066	0.0141	0.0009	0.0036	0.0008	0.0009	0.0046	0.0007	0.0006	0.0020	0.0014	0.0003	0	0.0009	0.0144	0.0027	0.0008	0	0.0004	0.0014	0.0046	0.003	0.68238	D	0.018	0.59732	D	0.022	0.90584	B	0.529	0.97372	P	0.126621	0.02772	U	13.091800	0.671307	0.30362	N	.	.	.	5.38	0.01033	T	-4.99	0.83092	D	0.284	0.32701	-1.0870	0.06048	T	0.018	0.07282	T	10	0.008825779	0.00200	T	.	.	.	0.166	0.42578	.	.	0.648470103757	0.64555	0.24578017633699462	0.24492	0.273103400774	0.29815	0.344277799129	0.17075	T	0.036046	0.23955	T	-0.392348	0.02598	T	-0.335542	0.40848	T	0.0927495050700933	0.11540	T	0.146985	0.01214	T	0.6519732	0.75469	0.672446	0.80775	0.6519732	0.75471	0.672446	0.80776	-9.897	0.73292	D	.	.	0.260	0.51985	B	.;.;.;.;.	.;.;.;.;.	2.785315	0.36596	20.3	0.96876741612568884	0.31442	0.55369	0.29847	D	AEFDBHCIJ	0.695273	0.65400	D	0.145546896504087	0.48600	3.070395	0.0174266624164014	0.40524	2.419858	0.999999991545664	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.78	2.87	0.32523	2.151000	0.41888	.	.	-0.356000	0.05535	0.599000	0.27739	0.000000	0.08366	0.007000	0.07825	0.0:0.1918:0.8082:0.0	10.996	0.46792	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017935	0.005376	0.020492	0.032110	0.000000	0.017544	0.018634	0.011364	0.05263	3571.83	102	chr6	29943300	.	G	C	3571.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=2298;ExcessHet=0.119;FS=0.955;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.93;MQRankSum=0;QD=13.28;ReadPosRankSum=1.15;SOR=0.625	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	17	0	2	0
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V,HLA-A:NM_002116:exon4:c.C806T:p.A269V	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062092	0.075758	0.065217	0.069149	0.050000	0.034483	0.048780	0.079545	0.05263	3200.83	158	chr6	29944308	.	C	T	3200.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.015;DP=2647;ExcessHet=0.119;FS=14.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.49;MQRankSum=0.273;QD=11.72;ReadPosRankSum=0.34;SOR=0.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,46:135:99:0|1:29944308_C_T:1566,0,3557:29944308	17	0	2	0
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M,HLA-A:NM_002116:exon5:c.G961A:p.V321M	.	3	1323	186	10	0	206	0.07223	.	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006472	0.015152	0.001359	0.014563	0.000000	0.008621	0.006098	0.007576	0.02632	3584.33	183	chr6	29944565	.	G	A	3584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=3398;ExcessHet=0;FS=3.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=-1.379;QD=19.91;ReadPosRankSum=-0.729;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:185,0:185:99:.:.:0,120,1800:.	18	0	1	0
chr6	30071298	30071298	T	C	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.A1076G:p.E359G	.	425	1056	36	5	0	46	0.021316	.	.	.	2822805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0013	0.00698882	0.0043	0.0010	0.0025	0.0058	0.0043	0.0037	0.0076	0.0124	0.0024967	386	154602	rs200705517	0.0026	0.0025	0.0023	0.0028	0.0145	0.0025	0.0024	0.0119	0.0109	0.0008	0.0022	0.0202	0.0034	0.0036	0.0145	0.0015	0.0044	0.0109	0.0027	0.0027	0.0026	0.0028	0.0095	0.0025	0.0024	0.0074	0.0066	0.0006	0	0.0025	0.0225	0.0095	0.0043	0.0238	0.0018	0.0033	0.0093	0.348	0.12386	T	0.372	0.16376	T	0.0	0.02946	B	0.006	0.12133	B	0.461370	0.12387	N	0.660669	1	0.08975	N	0.1	0.08449	N	-0.52	0.70717	T	-0.77	0.21429	N	0.032	0.00825	-1.0294	0.20649	T	0.073	0.29610	T	9	0.0051576495	0.00112	T	.	.	.	0.069	0.20116	.	.	0.32980341726	0.32591	0.4892985979737355	0.48849	1.33213483434	0.83669	0.746568977833	0.73940	T	5.78E-4	0.00232	T	-0.576066	0.00204	T	-0.594988	0.13237	T	0.0012265302896953	0.00012	T	.	.	.	0.053899508	0.10267	0.11954944	0.28855	0.053899508	0.10267	0.11954944	0.28854	-2.098	0.03575	T	.	.	0.049	0.00112	B	.	.	1.341678	0.17480	13.19	0.79342732161236129	0.12699	0.01186	0.04246	N	AEFBHCI	0.023291	0.01277	N	-0.956425136926051	0.09549	0.4524285	-0.941654056973241	0.11117	0.5644133	0.999988199632191	0.51787	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.01	3.13	0.35090	-0.908000	0.04171	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.8866:0.0:0.1134	9.058	0.35578	862	0.33134	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015917	0.005319	0.017663	0.032258	0.000000	0.017544	0.015432	0.011364	0.05263	2170.83	60	chr6	30071298	.	T	C	2170.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=822;ExcessHet=0.119;FS=1.122;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.734;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	17	0	2	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.02632	1327.33	33	chr6	30137212	.	C	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=765;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.007;SOR=0.577	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1390	18	0	1	0
chr6	30167192	30167192	G	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon2:c.G398A:p.R133Q	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0214397458715	.	0.00139776	0.0010	0	0.0003	0	0	0.0001	0	0.0065	0.0008215	127	154602	rs143173321	0.0004	0.0004	0.0002	0.0005	0.0054	0.0004	0.0003	0.0050	0.0049	2.987e-05	8.944e-05	0	0	0	0.0017	4.317e-05	0.0005	0.0054	0.0002	0.0002	7.711e-05	0.0003	0.0043	0.0001	9.697e-05	0.0029	0.0024	2.407e-05	0	0	0	0	0	0.0068	1.47e-05	0	0.0043	0.446	0.09101	T	0.464	0.12668	T	0.89	0.48942	P	0.186	0.36104	B	0.000382	0.44960	D	0.000000	1	0.08975	N	0.925	0.23481	L	-0.87	0.74583	T	-0.95	0.25332	N	0.252	0.30004	-1.0390	0.17617	T	0.062	0.25923	T	10	0.0070421994	0.00160	T	0.02144	0.44208	T	0.201	0.48592	0.657	0.79482	0.677049821194	0.67430	0.17829257791093572	0.17748	0.514590015321	0.49398	0.227050811052	0.01757	T	0.015391	0.12921	T	-0.416171	0.01810	T	-0.368243	0.37093	T	0.0238864465943413	0.01130	T	.	.	.	0.05347984	0.10128	0.06838081	0.14274	0.05347984	0.10127	0.06838081	0.14273	-5.76	0.44224	T	.	.	0.105	0.19235	B	.;.	.;.	0.990145	0.13680	10.22	0.89466229312455969	0.18821	0.02386	0.06774	N	AEFDBI	0.123171	0.23865	N	-0.6238916910853	0.18228	0.9446914	-0.684594513999427	0.17346	0.9219136	0.981776491658674	0.30309	0.603402	0.35316	0	0.548873	0.16688	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.27	2.45	0.28953	0.082000	0.14697	.	.	0.606000	0.46413	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.1903:0.1777:0.6321:0.0	4.832	0.12810	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003268	0.000000	0.002717	0.015957	0.000000	0.000000	0.000000	0.007576	0.02632	1043.33	36	chr6	30167192	.	G	A	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=742;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.256;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr6	30167232	30167232	T	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon2:c.T438A:p.D146E	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0200845198558	0.0013	0.000599042	0.0014	0.0004	0.0018	0	0.0003	0.0021	0.0046	0.0002	0.0013389	207	154602	rs140385648	0.0015	0.0015	0.0015	0.0015	0.0040	0.0014	0.0014	0.0027	0.0023	0.0001	0.0015	0.0083	0	0.0003	0.0040	0.0016	0.0017	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0012	0.0012	0.0017	0.0016	0.0005	0.0011	0.0008	0.0089	0	0.0004	0.0034	0.0020	0.0028	0	0.663	0.04657	T	1.0	0.01155	T	0.027	0.19556	B	0.006	0.12133	B	0.148449	0.18048	N	0.460981	1	0.08975	N	-0.025	0.05070	N	-0.72	0.72994	T	0.06	0.06253	N	0.133	0.12913	-1.0063	0.28065	T	0.029	0.12585	T	10	0.0032702982	0.00056	T	0.020085	0.42610	T	0.068	0.19811	0.49	0.57573	0.528860544761	0.52534	0.07374931533859407	0.07311	0.375834496674	0.39036	0.313650935888	0.12458	T	0.00234	0.01739	T	-0.607876	0.00130	T	-0.651806	0.08828	T	0.000478177642397417	0.00004	T	.	.	.	0.02746976	0.01942	0.02486309	0.00514	0.02746976	0.01942	0.02486309	0.00514	-0.918	0.00913	T	.	.	0.146	0.32299	B	.;.	.;.	-0.096138	0.03663	0.736	0.5031808800200076	0.04363	0.01518	0.05011	N	AEFDBIJ	0.103606	0.20752	N	-1.49102773351629	0.01913	0.0839493	-1.45689628761892	0.02708	0.1250621	0.965259192133832	0.28818	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.35	-1.08	0.09428	-0.570000	0.05986	.	.	-0.215000	0.08222	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1402:0.3709:0.1373:0.3516	1.318	0.01984	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005991	0.000000	0.002717	0.000000	0.000000	0.017544	0.021341	0.000000	0.02632	1211.33	36	chr6	30167232	.	T	A	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.3;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr6	30171853	30171853	A	G	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon7:c.A902G:p.Q301R	.	434	1079	9	0	0	9	0.00415321	.	.	.	2680106	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00645555789704	0.0001	.	0.0002	0	0	0	0	0.0003	0	0	9.06e-05	14	154602	rs201819032	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0	0	0	0.0002	0	0.0004	0.0001	1.238e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0002	0	0	0	0	0.0003	0	0	0.072	0.34982	T	0.376	0.16182	T	0.033	0.20350	B	0.029	0.21540	B	0.445671	0.12571	U	0.644439	0.999999	0.58761	D	0.695	0.17993	N	2.92	0.09915	T	-2.03	0.46673	N	0.145	0.14622	-0.9402	0.42584	T	0.005	0.01688	T	10	0.043952018	0.03299	T	0.006456	0.16985	T	0.041	0.10877	.	.	0.343788945184	0.33981	0.05048262931352523	0.04991	0.43953566547	0.43982	0.245152115822	0.03274	T	0.026275	0.19479	T	-0.511974	0.00489	T	-0.628253	0.10548	T	0.0422546017443934	0.04101	T	.	.	.	0.078385346	0.17846	0.12166521	0.29353	0.078385346	0.17845	0.12166521	0.29353	-3.586	0.17654	T	.	.	0.105	0.19438	B	.;.	.;.	2.004878	0.25474	16.78	0.85007723636640975	0.15629	0.21964	0.21585	N	AEFDBHCI	0.202827	0.32939	N	-0.775483817994969	0.13950	0.6911041	-0.684142045432449	0.17356	0.9225605	0.999998659627906	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.89	2.38	0.28415	0.604000	0.23862	.	.	-0.135000	0.12811	0.012000	0.18695	0.000000	0.08366	0.979000	0.57723	0.5696:0.1736:0.0905:0.1663	1.879	0.03028	840	0.37365	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	35	chr6	30171853	.	A	G	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.678;DP=724;ExcessHet=0;FS=1.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.906;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	18	0	1	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.000000	0.001359	0.000000	0.000000	0.008772	0.012195	0.018939	0.02632	1291.33	110	chr6	30546752	.	G	A	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=733;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.062;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1209	18	0	1	0
chr6	30547416	30547416	G	C	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon9:c.C1214G:p.P405R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.00786938952162	0.0005	0.000599042	0.0004	9.649e-05	0.0009	0	0	0.0005	0.0011	0.0003	0.0004075	63	154602	rs147634437	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	2.988e-05	0.0009	0.0002	2.519e-05	1.872e-05	0	0.0007	0.0005	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	9.622e-05	0	0.0004	0.0003	0.0002	0	0	0.0006	0	0	0.028	0.46129	D	0.05	0.48080	T	0.991	0.64070	D	0.854	0.60866	P	0.000013	0.62929	D	0.113676	0.999999	0.58761	D	0.045	0.08109	N	2.48	0.14657	T	-4.16	0.75375	D	0.532	0.56058	-1.0241	0.22377	T	0.028	0.11926	T	10	0.080355644	0.13033	T	0.007869	0.20877	T	0.192	0.47115	.	.	0.220282294035	0.21616	0.7374710508756271	0.73692	1.64595255246	0.89467	0.723504543304	0.70557	T	0.141453	0.47652	T	-0.391672	0.02624	T	-0.37592	0.36199	T	0.16103733578014	0.17948	T	.	.	.	0.18206646	0.39407	0.2241639	0.47319	0.18206646	0.39407	0.2241639	0.47318	-8.931	0.67252	D	.	.	0.144	0.31832	B	.	.	4.391868	0.67780	25.1	0.99804757158062285	0.88906	0.94225	0.60494	D	AEFBCI	0.714134	0.66671	D	0.327640858686453	0.57570	3.924996	0.386035980829821	0.60704	4.260926	0.999995503390883	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	5.519000	0.66788	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.633	0.88015	814	0.42100	GTP binding domain|Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2617.33	35	chr6	30547416	.	G	C	2617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=810;ExcessHet=0;FS=10.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.22;SOR=1.374	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.02632	1230.33	33	chr6	30552590	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=719;ExcessHet=0;FS=2.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.227;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	18	0	1	0
chr6	30561923	30561923	C	T	exonic	PRR3	.	nonsynonymous SNV	PRR3:NM_001077497:exon2:c.C196T:p.R66W,PRR3:NM_025263:exon3:c.C259T:p.R87W	.	426	1063	33	0	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0046	0.00678914	0.0061	0.0017	0.0033	0.0169	0.0011	0.0068	0.0064	0.0036	0.005388	833	154602	rs75541627	0.0057	0.0057	0.0058	0.0057	0.0357	0.0056	0.0056	0.0342	0.0336	0.0008	0.0024	0.0075	0.0357	0.0012	0.0062	0.0053	0.0053	0.0034	0.0041	0.0041	0.0042	0.0039	0.0177	0.0038	0.0037	0.0148	0.0137	0.0013	0.0011	0.0036	0.0066	0.0177	0.0009	0.0034	0.0052	0.0066	0.0033	0.051	0.39575	T	0.021	0.61642	D	0.001	0.09854	B	0.001	0.08700	B	0.303940	0.14549	N	0.575164	0.999974	0.18612	N	0.11	0.08516	N	0.86	0.47477	T	-2.37	0.64710	N	0.24	0.29774	-1.0253	0.21985	T	0.021	0.09056	T	10	0.0036749542	0.00067	T	.	.	.	0.038	0.09825	.	.	0.236890367714	0.23314	0.1353660463522554	0.13460	0.35954593402	0.37645	0.448106825352	0.31685	T	0.078163	0.35827	T	-0.558028	0.00261	T	-0.534119	0.18878	T	0.0101226880329522	0.00136	T	.	.	.	0.069881305	0.15346	0.045393888	0.06098	0.069881305	0.15346	0.045393888	0.06098	-3.18	0.15354	T	.	.	0.084	0.14842	B	.;.	.;.	1.986593	0.25238	16.69	0.934054647915873	0.23166	0.07150	0.13175	N	AEFBCI	0.069741	0.13818	N	-0.995699639391774	0.08696	0.4086778	-0.959403942635411	0.10706	0.5409046	0.999675892065676	0.41644	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.95	-0.97	0.09780	0.029000	0.13555	.	.	-0.171000	0.11205	0.089000	0.22556	0.693000	0.26187	0.990000	0.65344	0.2929:0.287:0.131:0.2891	0.341	0.00311	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008715	0.000000	0.006793	0.005319	0.000000	0.008621	0.021341	0.007576	0.02632	950.33	33	chr6	30561923	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.794;DP=709;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.05;SOR=1.096	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1330	18	0	1	0
chr6	30602902	30602910	GGACCCCCT	-	exonic	PPP1R10	.	nonframeshift deletion	PPP1R10:NM_001376195:exon18:c.1893_1901del:p.G635_P637del,PPP1R10:NM_002714:exon18:c.1893_1901del:p.G635_P637del	.	322	1177	23	0	0	23	0.00967606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00758786	0.0072	0.0114	0.0194	0.0013	0	0.0106	0.0140	0.0012	0.0018057	47	26028	rs567936494	0.0073	0.0073	0.0074	0.0072	0.0265	0.0072	0.0072	0.0230	0.0217	0.0088	0.0103	0.0095	0	0.0008	0.0265	0.0079	0.0096	0.0015	0.0092	0.0092	0.0099	0.0084	0.0118	0.0088	0.0086	0.0109	0.0106	0.0118	0.0011	0.0112	0.0092	0	0.0005	0.0340	0.0095	0.0161	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3276.79	35	chr6	30602901	.	AGGACCCCCT	A	3276.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=794;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=1.32;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	17	0	2	0
chr6	30645938	30645938	C	T	exonic	ATAT1	.	nonsynonymous SNV	ATAT1:NM_001031722:exon11:c.C976T:p.R326C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0148907449315	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762623439	8.709e-06	1.3e-05	5.708e-06	1.181e-05	1.121e-05	4.64e-06	3.67e-06	5.98e-06	4.72e-06	0	0	0	0	0	0	1.121e-05	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000359	0.45440	D	0.154614	0.999854	0.49910	D	0.895	0.22405	L	.	.	.	-1.32	0.32991	N	0.698	0.70263	-0.5470	0.66900	T	0.253	0.62258	T	9	0.6528733	0.69704	D	0.014891	0.35296	T	0.145	0.38592	0.244	0.17830	0.439445477881	0.43565	0.5677986034683783	0.56707	1.53616481711	0.87656	0.568263173103	0.48432	T	0.041486	0.25873	T	0.172065	0.71313	D	0.00938324	0.70943	D	0.905131459236145	0.55879	D	.	.	.	0.17629868	0.38535	0.13344783	0.32000	0.17629868	0.38534	0.13344783	0.31999	-3.857	0.21659	T	.	.	0.324	0.59228	B	.;.	.;.	5.077510	0.84722	28.4	0.99902543795078447	0.97426	0.84727	0.43814	D	AEFDBI	0.483038	0.52365	N	0.540022988090211	0.69475	5.36238	0.505546278289365	0.68362	5.209705	0.999999977581042	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.83	4.83	0.61880	2.867000	0.48126	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.489	0.60839	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	856.33	37	chr6	30645938	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.017;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1195	18	0	1	0
chr6	30647356	30647356	C	T	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.C125T:p.S42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0609747409683	.	.	1.922e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs780504031	7.241e-07	6.84e-07	1.431e-06	0	1.329e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.329e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19989	N	.	.	.	.	.	.	-0.22	0.10480	N	0.113	0.10056	-0.9623	0.38742	T	0.015	0.06138	T	7	0.04232827	0.02971	T	0.060975	0.68179	D	0.019	0.03383	0.12	0.02719	0.043077524339	0.03247	0.10605880622813212	0.10535	0.937674080103	0.72092	.	.	.	.	.	.	-0.197724	0.21133	T	-0.362317	0.37782	T	0.293783744210949	0.24747	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-3.459	0.15863	T	.	.	.	.	.	.	.	3.869286	0.56167	23.7	0.99724321775516311	0.82266	0.08311	0.14257	N	AEFDGBHCI	0.127450	0.24482	N	-0.911317606311665	0.10576	0.5060766	-0.831013619880643	0.13745	0.7146837	0.99999999999942	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.96	3.05	0.34272	2.099000	0.41392	.	.	-0.206000	0.08541	0.065000	0.21925	0.000000	0.08366	0.827000	0.38976	0.1717:0.7363:0.0:0.092	6.920	0.23565	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr6	30647356	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=778;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.629;SOR=0.586	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1085	18	0	1	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018692	0.005882	0.021739	0.035714	0.083333	0.093750	0.025316	0.000000	0.05263	817.83	33	chr6	30647826	.	A	G	817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.587;DP=711;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.046;SOR=0.753	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1085	17	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L,PPP1R18:NM_001134870:exon2:c.G655C:p.V219L	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014161	0.010101	0.006793	0.015957	0.000000	0.052632	0.027439	0.015152	0.05263	4428.83	37	chr6	30685364	.	C	G	4428.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.22;DP=979;ExcessHet=0.119;FS=1.338;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.794;SOR=0.779	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	17	0	2	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.028867	0.010101	0.035326	0.031915	0.150000	0.068966	0.030488	0.018939	0.05263	4592.83	39	chr6	30703983	.	C	T	4592.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=1435;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.278;SOR=0.758	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.015152	0.035326	0.031915	0.100000	0.051724	0.027439	0.018939	0.05263	5334.83	39	chr6	30704192	.	G	C	5334.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=1493;ExcessHet=0.119;FS=1.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.31;SOR=0.848	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr6	30705288	30705288	G	A	exonic	MDC1	.	stopgain	MDC1:NM_014641:exon10:c.C3895T:p.R1299X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362687413	6.198e-06	6.842e-06	8.221e-06	4.154e-06	8.124e-06	2.92e-06	2.11e-06	3.82e-06	2.77e-06	0	0	0	0	0	0	8.124e-06	0	0	6.612e-06	6.588e-06	0	1.355e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007509	0.31355	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.586	0.60664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.548115	0.96628	36	0.99740810564760529	0.83482	0.89579	0.50134	D	AEFBI	0.046648	0.07769	N	0.559446095650301	0.70660	5.534164	0.280126044387167	0.54381	3.603173	0.991729322328383	0.32587	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.23	3.23	0.36150	1.857000	0.39038	.	.	0.585000	0.30472	0.776000	0.29426	0.937000	0.28687	0.104000	0.18471	0.0:0.0:1.0:0.0	10.269	0.42652	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5291.33	39	chr6	30705288	.	G	A	5291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=2942;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr6	30948868	30948868	G	A	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.G404A:p.R135Q	.	435	1049	35	3	0	41	0.0191678	.	.	.	699512	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	.	0.0179712	0.0091	0.0216	0.0053	0.0351	0	0.0055	0.0053	0.0079	0.002348	363	154602	rs138097862	0.0034	0.0032	0.0032	0.0035	0.0187	0.0033	0.0032	0.0174	0.0169	0.0187	0.0067	0.0156	0.0032	0.0007	0.0149	0.0020	0.0067	0.0094	0.0098	0.0099	0.0100	0.0096	0.0241	0.0094	0.0092	0.0229	0.0224	0.0241	0	0.0097	0.0167	0.0079	0.0011	0.0204	0.0023	0.0118	0.0095	.	.	.	0.432	0.13634	T	0.44	0.35893	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.52	0.16187	N	0.085	0.06190	-1.0439	0.16148	T	0.019	0.07986	T	9	0.0025999844	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0551355673512	0.04727	0.04992561851155333	0.04935	0.650893596969	0.58354	0.174204036593	0.00052	T	0.008933	0.08161	T	-0.707615	0.00033	T	-0.771631	0.02715	T	0.00280118655006875	0.00029	T	0.590441	0.21717	T	0.030029949	0.02596	0.056276534	0.10024	0.030029949	0.02596	0.056276534	0.10024	-3.212	0.12628	T	.	.	0.134	0.29060	B	.;.;.	.;.;.	0.292356	0.06685	3.190	0.99416840104999804	0.63549	0.01466	0.04894	N	AEFDBI	0.028361	0.02483	N	-1.02887427196756	0.08008	0.3740068	-1.13747317801151	0.06995	0.3386411	0.972439218232666	0.29371	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	-1.61	0.07951	-0.182000	0.09720	.	.	-0.161000	0.11593	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.6545:0.0:0.3455:0.0	8.690	0.33421	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017668	0.024691	0.000000	0.015625	0.000000	0.111111	0.018987	0.012821	0.05263	3411.83	126	chr6	30948868	.	G	A	3411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=996;ExcessHet=0.119;FS=2.616;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.02;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	17	0	2	0
chr6	30948940	30948940	C	T	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.C476T:p.T159M	.	433	1073	16	0	0	16	0.00740056	.	.	.	3318925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0177011097532	0.0007	0.000599042	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001682	26	154602	rs367634528	0.0005	0.0005	0.0005	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	6.353e-05	0.0007	0	5.596e-05	0.0002	0.0002	0.0005	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	9.622e-05	0	0.0006	0	0	0	0	0.0006	0	0.0008	.	.	.	0.011	0.76473	D	0.998	0.73220	D	0.815	0.58847	P	.	.	.	.	1	0.19989	N	.	.	.	0.87	0.46412	T	-1.77	0.41809	N	0.301	0.34012	-1.1022	0.03835	T	0.060	0.25200	T	9	0.023786604	0.00633	T	0.017701	0.39501	T	0.105	0.29889	.	.	0.201204373187	0.19734	0.13410063976645648	0.13334	1.42764072559	0.85742	0.258436053991	0.04706	T	0.031805	0.22205	T	-0.436612	0.01354	T	-0.467416	0.25795	T	0.0523241693978536	0.05903	T	0.622538	0.23960	T	0.029478166	0.02450	0.06450842	0.12940	0.029478166	0.02450	0.06450842	0.12940	-7.23	0.55696	T	.	.	0.210	0.43734	B	.;.;.	.;.;.	2.692622	0.35150	19.82	0.99622365490195097	0.75473	0.05540	0.11434	N	AEFBI	0.037559	0.05184	N	-0.370116437582655	0.26539	1.449202	-0.575452350563824	0.20133	1.083385	0.905390615937995	0.26203	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.14	2.25	0.27340	0.539000	0.22885	.	.	0.549000	0.26987	0.001000	0.13787	0.001000	0.17328	0.005000	0.06747	0.0:0.7434:0.0:0.2566	5.589	0.16573	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2334.33	126	chr6	30948940	.	C	T	2334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=1082;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.377;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	18	0	1	0
chr6	30949584	30949640	ACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	-	exonic	MUCL3	.	nonframeshift deletion	MUCL3:NM_080870:exon2:c.1120_1176del:p.A388_T406del	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.875e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0031	0.0031	0.0031	0.0031	0.0359	0.0030	0.0030	0.0342	0.0336	0.0026	0.0051	0.0046	0.0359	0.0004	0.0109	0.0021	0.0042	0.0006	0.0041	0.0053	0.0043	0.0039	0.0063	0.0039	0.0037	0.0046	0.0042	0.0044	0.0011	0.0055	0.0058	0.0063	0.0010	0.0036	0.0040	0.0076	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5779.29	440	chr6	30949583	.	CACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	C	5779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=8156;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.12;MQRankSum=-5.25;QD=11.07;ReadPosRankSum=2.12;SOR=0.549	GT:AD:DP:GQ:PL	0/0:526,0:526:99:0,120,1800	18	0	1	0
chr6	30987052	30987052	C	A	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C877A:p.P293T,MUC21:NM_001322371:exon3:c.C877A:p.P293T,MUC21:NM_001322370:exon4:c.C877A:p.P293T	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00491405621475	.	.	0.0030	0.0097	0.0025	0.0007	0.0005	0.0033	0.0014	0.0009	0.0197095	513	26028	rs9262333	0.0006	0.0025	0.0006	0.0006	0.0014	0.0006	0.0006	0.0011	0.0009	0.0014	0.0011	0.0019	0.0011	0.0004	0.0006	0.0006	0.0007	0.0001	0.0048	0.0085	0.0050	0.0047	0.0075	0.0045	0.0043	0.0060	0.0055	0.0061	0	0.0075	0.0099	0.0046	0.0052	0	0.0035	0.0062	0.0047	0.863	0.02652	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	6.51	0.00528	T	0.42	0.03352	N	0.008	0.00068	-1.0691	0.09612	T	0.000	0.00039	T	8	0.003581524	0.00065	T	0.004914	0.12349	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.03263129242287663	0.03211	0.153254762081	0.17296	0.211890041828	0.00894	T	0.002179	0.01585	T	-0.711449	0.00031	T	-0.746044	0.03643	T	0.000365717999646855	0.00003	T	0.280872	0.04893	T	0.022923421	0.00991	0.03580562	0.02901	0.022923421	0.00991	0.03580562	0.02901	1.075	0.00123	T	.	.	0.060	0.00919	B	.	.	-2.087649	0.00083	0.001	0.066936977320077765	0.00028	0.00371	0.01888	N	AEFBI	0.015981	0.00332	N	-2.42029338985397	0.00024	0.001052021	-2.39213403991063	0.00041	0.001799791	0.520288568185509	0.21091	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.87	-4.22	0.03541	-1.826000	0.01799	.	.	-4.446000	0.00029	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2311:0.3906:0.2508:0.1275	2.147	0.03558	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	rs142976588	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.067538	0.085859	0.051630	0.042553	0.050000	0.060345	0.082317	0.053030	0.02632	113.33	34	chr6	30987052	.	C	A	113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=6115;ExcessHet=0;FS=6.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-14.65;QD=0.19;ReadPosRankSum=-3.97;SOR=1.522	GT:AD:DP:GQ:PL	0/0:498,0:498:99:0,120,1800	18	0	1	0
chr6	31025859	31025859	T	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.T428C:p.I143T,MUC22:NM_001318484:exon3:c.T437C:p.I146T,MUC22:NM_001322469:exon3:c.T437C:p.I146T	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00837732255629	.	.	9.235e-05	0	0	0	.	0.0004	0	0	.	.	.	rs764766795	7.23e-05	6.841e-05	6.28e-05	8.206e-05	8.344e-05	6.038e-05	5.629e-05	6.903e-05	6.389e-05	0	0	0	2.805e-05	0.0002	0	8.344e-05	0	1.262e-05	6.001e-05	5.949e-05	6.516e-05	5.461e-05	0.0001	3.118e-05	2.24e-05	4.801e-05	3.362e-05	0	0	0	0	0	0.0002	0	0.0001	0	0	0.0	0.91255	D	0.976	0.02447	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.64	0.12780	T	-0.57	0.17210	N	0.053	0.02462	.	.	.	.	.	.	.	0.04250589	0.03006	T	0.008377	0.22181	T	.	.	.	.	0.104622674875	0.10061	0.004622867414160253	0.00435	.	.	0.163599163294	0.00015	T	0.004419	0.03828	T	-0.519023	0.00446	T	-0.767982	0.02835	T	.	.	.	0.424058	0.11326	T	0.0732571	0.16357	0.082614854	0.18868	0.0732571	0.16356	0.082614854	0.18867	-0.736	0.00749	T	.	.	0.112	0.22024	B	.	.	-0.737314	0.01236	0.063	0.49063019325681456	0.04146	0.00035	0.00307	N	AEFBI	0.011645	0.00107	N	.	.	.	.	.	.	0.0180130173290474	0.13013	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.47	-1.44	0.08391	-0.630000	0.05599	.	.	-1.741000	0.00701	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6037:0.0:0.3963	6.848	0.23181	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3941.33	333	chr6	31025859	.	T	C	3941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.646;DP=6213;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.21;SOR=0.857	GT:AD:DP:GQ:PL	0/0:321,0:321:99:0,120,1800	18	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32631.1	654	chr6	31026275	.	A	*	32631.1	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.05;DP=9373;ExcessHet=0.6689;FS=0.527;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.68;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:331,0:613:99:.:.:7161,8154,17610:.	15	0	3	1
chr6	31026786	31026786	C	A	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C1355A:p.A452E,MUC22:NM_001318484:exon3:c.C1364A:p.A455E,MUC22:NM_001322469:exon3:c.C1364A:p.A455E	.	476	1041	4	1	0	6	0.00287356	.	.	.	2822855	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.0587179020971	.	0.000399361	0.0017	0	0	0	.	0	0	0.0025	0.0003816	59	154602	rs546686317	0.0044	0.0044	0.0043	0.0045	0.0051	0.0043	0.0043	0.0050	0.0049	0.0006	0.0004	4.037e-05	2.808e-05	0.0006	0.0018	0.0051	0.0033	0.0042	0.0018	0.0025	0.0019	0.0017	0.0034	0.0016	0.0015	0.0030	0.0028	0.0004	0	0.0005	0	0	0.0002	0.0035	0.0034	0.0010	0.0024	0.473	0.08408	T	0.658	0.06554	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.51	0.14284	T	-1.23	0.31170	N	0.126	0.11912	.	.	.	.	.	.	.	0.009105444	0.00206	T	0.058718	0.67414	D	.	.	.	.	0.128392430309	0.12331	0.005546242816993997	0.00524	.	.	0.145974442363	0.00004	T	0.004104	0.03512	T	-0.377263	0.03242	T	-0.779689	0.02463	T	.	.	.	0.0636936	0.00463	T	0.053343132	0.10081	0.07542871	0.16604	0.053343132	0.10081	0.07542871	0.16604	-5.546	0.42296	T	.	.	0.154	0.33981	B	.	.	-2.002359	0.00100	0.002	0.3270428098940108	0.01909	0.02748	0.07430	N	AEFBI	0.021701	0.00997	N	.	.	.	.	.	.	0.00400186367984494	0.10376	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.37	1.48	0.21900	-6.009000	0.00104	.	.	-2.825000	0.00179	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2618:0.5841:0.0:0.154	3.237	0.06367	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001946	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.014706	0.05263	4724.81	582	chr6	31026786	.	C	A	4724.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.694;DP=8245;ExcessHet=0;FS=17.663;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.85;MQRankSum=-0.642;QD=30.73;ReadPosRankSum=3.17;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:554,0:554:99:.:.:0,120,1800:.	18	1	0	0
chr6	31026797	31026797	-	CCACCACAGCTTCCACTGAAGGCTCTGAGG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.1366_1367insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.T458_V459insASTEGSEATT,MUC22:NM_001318484:exon3:c.1375_1376insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.T461_V462insASTEGSEATT,MUC22:NM_001322469:exon3:c.1375_1376insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.V462_G1777delinsASTEGSEATTVSTTGSETTTASTAHSETTAASTMGSETTKVSTAGSETTVSTAGSETTAASTEDSETNTAFTEDSKTTTASTTGFETTAASTTGSEPTMASTMGSETTMASTIGPETTKVSTASSEVTTVFAAGSETIRASTVGSETTTVSTTGSETTTASIMGSETSTDSTTGSETTTASTEGSETTTASTEGSEATTVSTTGSETTTVSITDSETTTTCTEGSEMTAVSTTVFETTTASTEGSEITIASTSDSETTTASTEGSETTTVTTAGSETKTAYTTGSETTTASNTGLETTTVFTIGSDTTTASTEGSETTAVSATGSEMTTVSTEGSENTTVSTTGSETTTVSTTGLETTTTSTEGSEMTTVSTTGAETTTDSTEGSGTTAASTAGSETTTVSTADSENTTASTADSETTSASTTGSETTTASTTSSETTTASTEGSETTTVSTTDSETTMVSTTGSERTITSTEGSETTTVSATGSETTVSTEGSGTTTVSITGSETTKVSTTGSETTTTSTEGSEITTASITGSETTTASTEGSETTTASTEGSETTSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	474	1044	3	1	0	5	0.00238892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375621176	0.0007	0.0008	0.0006	0.0008	0.0019	0.0007	0.0007	0.0017	0.0016	0.0003	8.657e-05	4.063e-05	0	0.0004	0.0002	0.0007	0.0011	0.0019	0.0010	0.0012	0.0010	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	0.0004	0	0	0.0002	0	0.0018	0.0005	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	4250.77	582	chr6	31026797	.	A	ACCACCACAGCTTCCACTGAAGGCTCTGAGG	4250.77	.	AC=2;AF=0.053;AN=38;DP=8223;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.59;QD=33.34;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:554,0:554:99:.:.:0,120,1800:.	18	1	0	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	8309.29	539	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	8309.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=11329;ExcessHet=0;FS=0.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.236;QD=10.15;ReadPosRankSum=0.248;SOR=0.696	GT:AD:DP:GQ:PL	0/0:462,0:462:99:0,120,1800	18	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	108983.0	539	chr6	31028713	.	C	*	108983.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.452;DP=12714;ExcessHet=1.1637;FS=0.523;InbreedingCoeff=-0.0192;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0.975;QD=16.64;ReadPosRankSum=-0.045;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	17	0	2	0
chr6	31029720	31029720	C	T	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C4289T:p.T1430I,MUC22:NM_001318484:exon3:c.C4298T:p.T1433I,MUC22:NM_001322469:exon4:c.C4298T:p.T1433I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0471223506651	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987932110	7.235e-07	6.842e-07	1.428e-06	0	3.181e-05	0	0	.	.	3.181e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.39	0.33842	T	-1.05	0.27463	N	0.06	0.03175	.	.	.	.	.	.	.	0.072134465	0.10728	T	0.047122	0.62778	D	.	.	.	.	0.243972157842	0.24002	0.08108933179167521	0.08043	.	.	0.176699131727	0.00067	T	0.003609	0.03020	T	-0.537969	0.00345	T	-0.746103	0.03640	T	.	.	.	0.453855	0.12912	T	0.028407566	0.02174	0.036015593	0.02965	0.028407566	0.02174	0.036015593	0.02965	-6.443	0.49844	T	.	.	0.214	0.44319	B	.	.	0.907999	0.12825	9.337	0.39376449531450852	0.02713	0.02526	0.07033	N	AEFBI	0.021158	0.00912	N	.	.	.	.	.	.	6.15743525605124E-4	0.07460	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	0.984	0.18891	-0.704000	0.05160	.	.	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5797:0.0:0.4203	5.512	0.16174	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	11406.3	539	chr6	31029720	.	C	T	11406.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.552;DP=12447;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.011;QD=12.74;ReadPosRankSum=0.486;SOR=0.655	GT:AD:DP:GQ:PL	0/0:462,0:462:99:0,120,1800	18	0	1	0
chr6	31029723	31029723	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4292_4293insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST,MUC22:NM_001318484:exon3:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1463_S1464insAGSETTTASTAGSETTTAST,MUC22:NM_001322469:exon4:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.S1474_G1777delinsAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0039	0.0019	0.0019	0.0048	0.0018	0.0018	0.0035	0.0033	0.0009	0.0031	0.0051	0.0041	0.0091	0.0048	0.0016	0.0028	0.0011	0.0002	0.0025	0.0002	0.0001	0.0009	0.0001	8.245e-05	0.0002	6.649e-05	0	0	0.0001	0.0006	0.0003	0.0005	0	0.0002	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11439.2	539	chr6	31029723	.	A	AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	11439.2	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.076;DP=12410;ExcessHet=0.119;FS=0.551;InbreedingCoeff=-0.1014;MLEAC=2;MLEAF=0.063;MQ=59.33;MQRankSum=-3.73;QD=14.33;ReadPosRankSum=-5.701;SOR=0.661	GT:AD:DP:GQ:PL	0/0:462,0:462:99:0,120,1800	14	0	2	3
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13885.3	539	chr6	31029812	.	T	*	13885.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.639;DP=12766;ExcessHet=3.116;FS=0;InbreedingCoeff=-0.1611;MLEAC=3;MLEAF=0.083;MQ=59.61;MQRankSum=-5.406;QD=2.42;ReadPosRankSum=-4.882;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	15	0	3	1
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2971.99	539	chr6	31029828	.	A	*	2971.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.683;DP=11989;ExcessHet=0.7564;FS=0.678;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-12.98;QD=0.84;ReadPosRankSum=-8.38;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	15	0	3	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS,MUC22:NM_001318484:exon3:c.4415_4417del:p.C1472_T1473delinsS,MUC22:NM_001322469:exon4:c.4415_4417del:p.T1473_G1777delinsSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	2348.25	539	chr6	31029836	.	TGTA	T	2348.25	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.958;DP=11899;ExcessHet=0.3672;FS=1.435;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.029;MQ=59.42;MQRankSum=-14.25;QD=0.89;ReadPosRankSum=-9.982;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	16	0	1	2
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2348.25	539	chr6	31029836	.	TGTA	*	2348.25	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.958;DP=11899;ExcessHet=0.3672;FS=1.435;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.059;MQ=59.42;MQRankSum=-14.25;QD=0.89;ReadPosRankSum=-9.982;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	15	0	2	2
chr6	31029842	31029842	-	CTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4411_4412insCTG:p.T1471_G1472insA,MUC22:NM_001318484:exon3:c.4420_4421insCTG:p.T1474_G1475insA,MUC22:NM_001322469:exon4:c.4420_4421insCTG:p.G1475_G1777delinsAGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	425	1038	57	0	2	59	0.0267229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.278e-05	0	0	0	.	0	0	0.0001	.	.	.	rs749779546	0.0019	0.0028	0.0019	0.0020	0.0037	0.0019	0.0018	0.0032	0.0030	0.0008	0.0037	0.0027	0.0032	0.0121	0.0027	0.0015	0.0024	0.0014	0.0016	0.0039	0.0015	0.0017	0.0030	0.0014	0.0014	0.0023	0.0020	0.0003	0.0049	0.0030	0.0012	0.0004	0.0046	0.0037	0.0017	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1759.1	539	chr6	31029842	.	A	ACTG	1759.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.375;DP=11672;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.41;MQRankSum=-15.1;QD=2.13;ReadPosRankSum=-9.466;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	16	0	1	2
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	858.99	539	chr6	31029847	.	T	*	858.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.771;DP=11916;ExcessHet=0.7564;FS=0.71;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-17.12;QD=0.25;ReadPosRankSum=-10.45;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:462,0:462:99:.:.:0,120,1800:.	15	0	3	1
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.07895	5282.79	54	chr6	31138459	.	G	A	5282.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.83;DP=1719;ExcessHet=0.3672;FS=2.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.302;SOR=0.576	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	16	0	3	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,69:206:99:0|1:31269990_T_C:2474,0,5545:31269990	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,29:168:99:0|1:31270154_CAGA_C:799,0,5749:31270154	10	0	9	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1053	4289.43	172	chr6	31271103	.	C	T	4289.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.236;DP=2622;ExcessHet=0.7564;FS=2.051;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=54.29;MQRankSum=1.21;QD=8.38;ReadPosRankSum=0.539;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:162,0:162:99:.:.:0,120,1800:.	15	0	4	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.02632	608.33	172	chr6	31271120	.	C	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.717;DP=2888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.54;MQRankSum=-4.062;QD=3.6;ReadPosRankSum=2.31;SOR=0.661	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	18	0	1	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T,HLA-C:NM_002117:exon3:c.G544A:p.A182T	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.054595	0.055556	0.063859	0.009709	0.100000	0.077586	0.064417	0.041667	0.05263	2888.83	224	chr6	31271148	.	C	T	2888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.632;DP=3136;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.52;MQRankSum=6.89;QD=7.2;ReadPosRankSum=1.4;SOR=0.656	GT:AD:DP:GQ:PL	0/1:144,71:215:99:1406,0,4538	17	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	35598.0	224	chr6	31271153	.	A	*	35598.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=3489;ExcessHet=38.2876;FS=0.539;InbreedingCoeff=-0.9;MLEAC=1;MLEAF=0.026;MQ=52.46;MQRankSum=-2.612;QD=11.21;ReadPosRankSum=0.007;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:165,0:219:99:.:.:1648,2145,8852:.	18	0	1	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F,HLA-C:NM_002117:exon3:c.C397T:p.L133F	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004334	0.010101	0.004076	0.005000	0.000000	0.008621	0.003067	0.000000	0.02632	807.33	190	chr6	31271295	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=2355;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.57;MQRankSum=-5.61;QD=6.16;ReadPosRankSum=0.905;SOR=1.378	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	18	0	1	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	600.29	151	chr6	31271334	.	G	GCC	600.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1830;ExcessHet=0;FS=3.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-0.613;QD=4.92;ReadPosRankSum=-1.672;SOR=1.187	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	597.29	151	chr6	31271336	.	AGG	A	597.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=1829;ExcessHet=0;FS=3.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.3;MQRankSum=-0.625;QD=4.86;ReadPosRankSum=-1.658;SOR=1.169	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15452.9	154	chr6	31271337	.	G	*	15452.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=1867;ExcessHet=17.0548;FS=6.023;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=57.16;MQRankSum=-3.909;QD=9.79;ReadPosRankSum=-1.717;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:86,0:102:99:0|1:31271337_G_T:413,672,4263:31271337	18	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:235,0:235:0:.:.:0,0,5471:.	12	0	6	1
chr6	31355398	31355398	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G814A:p.V272M	.	0	1510	12	0	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00459361287355	.	.	5.767e-05	0	8.639e-05	0.0002	0.0002	4.496e-05	0	0	7.12e-05	11	154602	rs41558116	1.37e-06	2.052e-06	2.726e-06	0	5.059e-05	2.3e-07	9e-08	8.38e-06	3.14e-06	0	0	0	5.059e-05	0	0	0	0	0	0	6.671e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.022	0.57587	D	0.938	0.52538	P	0.598	0.50679	P	0.939030	0.07583	U	1.046770	0.99179	0.23983	N	.	.	.	4.14	0.02839	T	-1.75	0.41428	N	0.1	0.08227	-0.9441	0.41960	T	0.007	0.02598	T	10	0.23147342	0.40122	T	0.004594	0.11346	T	0.114	0.32008	.	.	0.213573922156	0.20996	0.16963876345695159	0.16883	0.828746416329	0.67537	.	.	.	0.027453	0.20103	T	-0.141319	0.29681	T	-0.440771	0.28721	T	0.729501903057098	0.42184	D	0.628837	0.24395	T	0.44117406	0.63478	0.3217573	0.58122	0.44117406	0.63479	0.3217573	0.58121	-9.205	0.69006	D	.	.	0.158	0.34970	B	.;.;.;.	.;.;.;.	3.073368	0.41320	21.3	0.98862436120573971	0.47493	0.07948	0.13932	N	AEFDBHCI	0.151370	0.27584	N	-0.139968969333079	0.35662	2.051313	-0.297652432696044	0.28176	1.568886	0.999993546791608	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.27	0.20595	0.172000	0.16518	.	.	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.605000	0.31514	0.0:0.6896:0.1938:0.1165	6.020	0.18853	934	0.15400	.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002153	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	158.33	225	chr6	31355398	.	C	T	158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=3387;ExcessHet=0;FS=9.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.83;MQRankSum=-8.732;QD=0.7;ReadPosRankSum=-1.706;SOR=0.761	GT:AD:DP:GQ:PL	0/0:230,0:230:99:0,120,1800	18	0	1	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:230,0:230:99:.:.:0,120,1800:.	11	0	8	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038961	0.025253	0.024457	0.025000	0.050000	0.060345	0.064024	0.068182	0.02632	56.33	221	chr6	31355485	.	G	A	56.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=4086;ExcessHet=0;FS=40.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-15.51;QD=0.19;ReadPosRankSum=-0.225;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:250,0:250:99:.:.:0,120,1800:.	18	0	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.07895	597.79	43	chr6	31356197	.	C	T	597.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1409;ExcessHet=0.3672;FS=24.956;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.29;MQRankSum=-0.368;QD=2.89;ReadPosRankSum=-1.551;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,109,1556:.	16	0	3	0
chr6	31356242	31356242	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G544A:p.A182T	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00289652785249	.	.	0.0021	0.0006	0.0083	0.0012	0.0020	0.0017	0.0039	0.0008	0.0033893	524	154602	rs1050683	0.0038	0.0093	0.0036	0.0039	0.0145	0.0037	0.0036	0.0135	0.0130	0.0020	0.0145	0.0207	0.0135	0.0064	0.0074	0.0025	0.0055	0.0045	0.0005	0.0092	0.0005	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0007	0.0017	0.0005	0	0	0.0005	0	0	0.246	0.31532	T	0.125	0.35330	T	0.005	0.12996	B	0.035	0.22741	B	0.774906	0.06619	U	1.200770	1	0.08975	N	.	.	.	5.66	0.00776	T	-1.05	0.36586	N	0.158	0.16447	-0.9347	0.43439	T	0.003	0.00994	T	10	0.0057958066	0.00129	T	0.002897	0.06133	T	0.132	0.35948	.	.	0.0666544352282	0.05500	0.07754013685048124	0.07690	0.219639232792	0.24509	.	.	.	0.023705	0.18049	T	-0.51805	0.00452	T	-0.477443	0.24720	T	0.0211061283792609	0.00812	T	0.0876912	0.00645	T	0.21158327	0.43487	0.15816456	0.36949	0.21158327	0.43487	0.15816456	0.36948	-5.795	0.44531	T	.	.	0.116	0.29941	B	.;.;.	.;.;.	1.720096	0.21901	15.40	0.89170354378843952	0.18569	0.04472	0.10083	N	AEFDBHCI	0.083446	0.16906	N	-0.760345592036767	0.14354	0.7143117	-0.954378156450478	0.10821	0.5475359	0.999998763347558	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-0.211	0.12525	-0.587000	0.05874	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:0.4554:0.0:0.5446	6.759	0.22717	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006445	0.000000	0.009511	0.000000	0.000000	0.017544	0.012346	0.000000	0.02632	101.33	75	chr6	31356242	.	C	T	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1877;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.25;MQRankSum=-2.988;QD=1.56;ReadPosRankSum=-2.535;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,7:65:99:0|1:31356242_C_T:115,0,2394:31356242	18	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	28154.8	93	chr6	31356247	.	C	*	28154.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.65;DP=2188;ExcessHet=3.6106;FS=0.533;InbreedingCoeff=-0.1709;MLEAC=4;MLEAF=0.105;MQ=49.38;MQRankSum=-1.585;QD=15.54;ReadPosRankSum=-0.627;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:61,0:68:99:0|1:31356242_C_T:106,289,2769:31356242	15	0	4	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F	.	10	1431	80	1	0	82	0.0278533	.	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019707	0.005435	0.039326	0.000000	0.100000	0.008772	0.019231	0.000000	0.02632	441.33	49	chr6	31356389	.	G	A	441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=1386;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.07;MQRankSum=-2.03;QD=7.61;ReadPosRankSum=-2.382;SOR=0.67	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:31,0:33:9:0|1:31356399_C_G:0,93,1395:31356399	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	11	2	6	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	10241.9	43	chr6	31356717	.	AGGT	*	10241.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.911;DP=1052;ExcessHet=0.3394;FS=8.004;InbreedingCoeff=0.1815;MLEAC=3;MLEAF=0.079;MQ=53.7;MQRankSum=-5.894;QD=14.61;ReadPosRankSum=-0.931;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	16	0	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,124:124:99:1|1:31356747_GCC_G:5539,373,0:31356747	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,85:164:99:0|1:31356809_C_T:3331,0,3061:31356809	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:72:99:.:.:911,1034,2756:.	12	0	7	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,31:72:99:.:.:2965,1738,1627:.	7	1	11	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.02632	2012.33	185	chr6	31576785	.	C	T	2012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.16;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	18	0	1	0
chr6	31589884	31589884	G	A	exonic	NCR3	.	nonsynonymous SNV	NCR3:NM_001145466:exon2:c.C286T:p.R96W,NCR3:NM_001145467:exon2:c.C286T:p.R96W,NCR3:NM_147130:exon2:c.C286T:p.R96W	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0001	0.00738818	0.0030	0.0002	0.0003	0.0002	0	0.0001	0.0103	0.0199	0.0025744	398	154602	rs201297742	0.0013	0.0013	0.0007	0.0018	0.0189	0.0012	0.0012	0.0181	0.0178	0	2.236e-05	0	0.0002	0	0.0005	0.0001	0.0018	0.0189	0.0007	0.0007	0.0003	0.0011	0.0193	0.0006	0.0005	0.0161	0.0149	9.622e-05	0	6.533e-05	0	0	0	0	8.82e-05	0	0.0193	0.158	0.23905	T	1.0	0.09655	T	0.003	0.11197	B	0.001	0.04355	B	0.038965	0.01856	N	2.161120	1	0.08975	N	0.39	0.12200	N	-0.24	0.66834	T	-1.3	0.36385	N	0.259	0.30574	-1.0551	0.13013	T	0.052	0.22114	T	10	0.0048856735	0.00104	T	.	.	.	0.008	0.00669	.	.	0.494433119893	0.49078	0.5083620337757756	0.50758	0.274510111426	0.29939	0.295474261045	0.09728	T	0.010313	0.09328	T	-0.547367	0.00303	T	-0.542775	0.18025	T	0.00649453136318152	0.00072	T	.	.	.	0.3711327	0.58669	0.08568204	0.19800	0.3711327	0.58669	0.08568204	0.19799	-3.452	0.41063	T	.	.	0.050	0.00436	B	.;.;.;.	.;.;.;.	-0.043121	0.03995	0.907	0.87870230794596893	0.17543	0.00391	0.01965	N	AEFBI	0.090432	0.18324	N	-1.45329928097686	0.02190	0.09646564	-1.50889304794984	0.02275	0.1043898	0.999967765676398	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.01	-4.3	0.03454	-1.200000	0.03138	.	.	-0.726000	0.03757	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2889:0.0:0.5464:0.1646	6.391	0.20792	878	0.29785	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002179	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1693.33	37	chr6	31589884	.	G	A	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=861;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.668;SOR=0.491	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1302	18	0	1	0
chr6	31624332	31624332	A	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon4:c.A362G:p.Q121R,PRRC2A:NM_080686:exon4:c.A362G:p.Q121R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00431107444183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.02544	T	0.109	0.37449	T	0.077	0.24313	B	0.056	0.26147	B	0.000234	0.47286	D	0.000000	0.801501	0.34517	D	1.485	0.37223	L	4.65	0.01779	T	-1.37	0.33998	N	0.122	0.11626	-0.9311	0.43977	T	0.003	0.01092	T	10	0.073376656	0.11077	T	0.004311	0.10467	T	0.082	0.23913	0.444	0.50139	0.138757226776	0.13463	0.3883269082735907	0.38747	0.167843633087	0.18923	0.498628497124	0.38637	T	0.007095	0.06517	T	-0.196678	0.21284	T	-0.520291	0.20265	T	0.927319169044495	0.59010	D	0.721628	0.33490	T	0.15110534	0.34367	0.13112128	0.31491	0.15110534	0.34366	0.13112128	0.31490	-5.181	0.38748	T	.	.	0.214	0.44293	B	.;.	.;.	3.330165	0.45838	22.2	0.93132125489638384	0.22773	0.85030	0.44131	D	AEFDBCI	0.199810	0.32659	N	-0.0295688337982455	0.40520	2.407726	0.121094009867889	0.45631	2.822732	0.999982878712353	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	1.415000	0.34355	.	.	0.747000	0.86732	0.884000	0.31069	1.000000	0.68203	0.995000	0.73285	0.8345:0.1654:0.0:0.0	10.300	0.42827	878	0.29785	BAT2, N-terminal;BAT2, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	150	chr6	31624332	.	A	G	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-2.12;SOR=0.731	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,31:97:99:0|1:31625601_T_C:502,0,2061:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,29:94:99:.:.:689,0,1577:.	1	0	16	2
chr6	31628018	31628018	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon12:c.C1544T:p.P515L,PRRC2A:NM_080686:exon12:c.C1544T:p.P515L	.	424	1079	19	0	0	19	0.00872761	.	.	.	3221736	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0056	0.00978435	0.0070	0.0113	0.0049	0.0309	0.0009	0.0029	0.0046	0.0120	0.0064035	990	154602	rs9469031	0.0046	0.0046	0.0044	0.0048	0.0150	0.0045	0.0045	0.0140	0.0136	0.0104	0.0053	0.0017	0.0150	0.0011	0.0073	0.0036	0.0048	0.0123	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0141	0.0131	0.0112	0.0044	0.0046	0.0017	0.0170	0.0009	0.0102	0.0028	0.0062	0.0120	0.078	0.33923	T	0.033	0.53072	D	0.041	0.21357	B	0.023	0.19966	B	0.000095	0.51296	D	0.000000	0.999936	0.51612	D	1.5	0.37844	L	2.68	0.12371	T	-2.07	0.47344	N	0.179	0.20925	-1.0837	0.06646	T	0.018	0.07329	T	10	0.0035332143	0.00063	T	.	.	.	0.049	0.13647	.	.	0.043077524339	0.03247	0.27030129343339515	0.26943	0.159160048467	0.17961	0.511947453022	0.40494	T	0.028205	0.20484	T	-0.577638	0.00199	T	-0.581564	0.14405	T	0.0116022703818369	0.00176	T	0.721628	0.33490	T	0.051760938	0.09552	0.07394783	0.16124	0.051760938	0.09552	0.07394783	0.16124	-7.087	0.54667	T	.	.	0.079	0.07318	B	.;.	.;.	2.432338	0.31291	18.70	0.94184675034214371	0.24407	0.70297	0.34532	D	AEFBHCI	0.114510	0.22552	N	-0.177869129812417	0.34057	1.939399	-0.0621568434122232	0.36968	2.158373	0.999992589905816	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	4.38	0.52019	1.400000	0.34186	.	.	0.592000	0.32167	0.988000	0.36536	0.031000	0.21272	0.821000	0.38685	0.0:1.0:0.0:0.0	14.308	0.65953	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005991	0.000000	0.004076	0.015957	0.000000	0.008772	0.006098	0.000000	0.02632	1048.33	42	chr6	31628018	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=867;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.785;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	0	1	0
chr6	31628149	31628149	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon12:c.C1675T:p.P559S,PRRC2A:NM_080686:exon12:c.C1675T:p.P559S	.	428	1083	11	0	0	11	0.00505282	.	.	.	3199434	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0030	0.00159744	0.0025	0.0009	0.0025	0.0001	0	0.0038	0.0114	0.0002	0.0023609	365	154602	rs45544132	0.0026	0.0026	0.0026	0.0026	0.0137	0.0025	0.0025	0.0113	0.0104	0.0005	0.0034	0.0072	2.519e-05	0.0001	0.0137	0.0028	0.0034	0.0003	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0017	0.0026	0.0023	0.0007	0	0.0033	0.0043	0	9.411e-05	0.0068	0.0027	0.0052	0	0.04	0.42199	D	0.121	0.35840	T	0.033	0.20350	B	0.021	0.19346	B	0.000127	0.49741	D	0.000000	0.999997	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	-2.09	0.47683	N	0.345	0.40765	-0.9255	0.44786	T	0.003	0.00864	T	10	0.0041169524	0.00081	T	.	.	.	0.107	0.30369	.	.	0.082315109003	0.07666	0.4673129211165125	0.46650	0.157380768537	0.17771	0.482505261898	0.36402	T	0.007995	0.07364	T	-0.500234	0.00570	T	-0.493749	0.22999	T	0.0114537539341068	0.00172	T	0.628837	0.24395	T	0.04677085	0.07884	0.07048211	0.14979	0.04677085	0.07884	0.07048211	0.14978	-4.479	0.30613	T	.	.	0.086	0.10739	B	.;.	.;.	1.810753	0.23013	15.85	0.77498029658026946	0.11901	0.51918	0.29008	D	AEFDBHCI	0.110001	0.21828	N	-0.362916833091831	0.26800	1.465476	-0.289755038708508	0.28435	1.585444	0.999922363772361	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.380000	0.43982	.	.	0.592000	0.32167	0.250000	0.24849	0.991000	0.31484	0.127000	0.19450	0.1989:0.8011:0.0:0.0	10.167	0.42059	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017429	0.010101	0.031250	0.005319	0.000000	0.017544	0.009146	0.011364	0.02632	1275.33	38	chr6	31628149	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.916;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.743;SOR=0.683	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	31631671	31631671	A	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon16:c.A2998C:p.N1000H,PRRC2A:NM_080686:exon16:c.A2998C:p.N1000H	.	413	1108	1	0	0	1	0.00045106	.	.	.	3379970	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0107232713958	0.0002	.	0.0001	0	0	0	0	0.0002	0.0015	0	9.7e-05	15	154602	rs199521668	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	8.224e-05	0	0	0.0040	0	0	0.0006	7.326e-05	0.0003	0	0.0002	0.0002	8.999e-05	0.0002	0.0002	0.0001	8.724e-05	0.0001	7.898e-05	0	0	0	0.0026	0	0	0	0.0002	0.0010	0	0.04	0.42199	D	0.208	0.26883	T	0.0	0.02946	B	0.001	0.04355	B	0.057735	0.22457	N	0.428248	1	0.08975	N	0	0.06538	N	4.55	0.01948	T	-0.85	0.23156	N	0.11	0.09631	-0.8972	0.48273	T	0.002	0.00526	T	10	0.009396374	0.00212	T	0.010723	0.27578	T	0.035	0.08770	.	.	0.043077524339	0.03247	0.07657374073598412	0.07593	0.161090804594	0.18180	0.338251024485	0.16175	T	0.005855	0.05296	T	-0.532229	0.00373	T	-0.727987	0.04419	T	0.0099070177289876	0.00131	T	0.69903	0.30897	T	0.050632093	0.09178	0.047196012	0.06744	0.050632093	0.09177	0.047196012	0.06744	-4.701	0.33416	T	.	.	0.070	0.07554	B	.;.	.;.	1.397756	0.18111	13.56	0.72357163916497147	0.09945	0.42591	0.26912	N	AEFDBCI	0.126487	0.24345	N	-0.666395832492222	0.16984	0.8701486	-0.55669732180391	0.20628	1.112254	0.991444588093334	0.32491	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.2	1.6	0.22686	1.953000	0.39977	.	.	0.747000	0.86732	0.572000	0.27522	0.004000	0.18990	0.528000	0.29660	0.6393:0.0:0.3607:0.0	7.131	0.24682	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	36	chr6	31631671	.	A	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.992;DP=740;ExcessHet=0;FS=2.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.13;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	18	0	1	0
chr6	31632205	31632207	CCT	-	exonic	PRRC2A	.	nonframeshift deletion	PRRC2A:NM_004638:exon16:c.3532_3534del:p.P1179del,PRRC2A:NM_080686:exon16:c.3532_3534del:p.P1179del	.	422	1066	33	1	0	35	0.0161514	.	.	.	3216452	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0021	0.0002	0.0008	0.0025	0.0002	0.0029	0.0012	0.0012	0.0001164	18	154602	rs547196862	0.0017	0.0017	0.0017	0.0018	0.0189	0.0017	0.0016	0.0160	0.0149	0.0004	0.0014	0.0029	0.0008	7.677e-05	0.0189	0.0018	0.0023	0.0013	0.0015	0.0015	0.0014	0.0016	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0014	0.0017	0.0006	0	0.0170	0.0024	0.0043	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009259	0.000000	0.006793	0.010638	0.000000	0.035088	0.018293	0.000000	0.02632	1623.29	36	chr6	31632204	.	CCCT	C	1623.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=739;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.04;ReadPosRankSum=-0.299;SOR=0.551	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr6	31637269	31637269	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.C6278G:p.T2093R,PRRC2A:NM_080686:exon30:c.C6278G:p.T2093R	.	409	1100	12	0	1	13	0.00542495	.	.	.	2354438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00997595296051	0.0011	.	0.0006	0.0001	0.0004	0	0.0006	0.0007	0.0011	0.0008	0.0004851	75	154602	rs115306790	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	2.988e-05	0.0004	0.0015	5.038e-05	0.0006	0.0023	0.0005	0.0006	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	4.812e-05	0	0.0001	0.0009	0.0004	0.0016	0.0034	0.0008	0	0	0.003	0.68238	D	0.025	0.56192	D	0.089	0.25085	B	0.008	0.13708	B	0.504316	0.11914	N	0.761042	0.989783	0.24254	N	0	0.06538	N	4.59	0.01885	T	-1.3	0.32590	N	0.367	0.41459	-0.8731	0.50295	T	0.002	0.00707	T	10	0.032936364	0.01457	T	0.009976	0.25968	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.2558363365434808	0.25497	0.178833483932	0.20123	0.486222445965	0.36915	T	0.008027	0.07391	T	-0.46433	0.00923	T	-0.53011	0.19275	T	0.0129608555596332	0.00224	T	0.738226	0.35599	T	0.17241795	0.37931	0.22701688	0.47698	0.17241795	0.37931	0.22701688	0.47697	-3.935	0.22828	T	.	.	0.269	0.50278	B	.;.	.;.	2.848456	0.37596	20.5	0.89406778148803701	0.18770	0.91253	0.53161	D	AEFDBHCI	0.528821	0.55019	D	-0.227630049196985	0.32004	1.800342	-0.0244943684078109	0.38613	2.277347	0.999997246821151	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	2.498000	0.45023	.	.	0.576000	0.29215	0.882000	0.31029	0.999000	0.35428	0.436000	0.27583	0.1565:0.8435:0.0:0.0	13.520	0.61016	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2323.33	68	chr6	31637269	.	C	G	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.18;DP=1551;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.617;SOR=0.662	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	18	0	1	0
chr6	31680364	31680364	T	C	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon1:c.A10G:p.M4V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00503598664031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.058	0.26451	B	.	.	.	.	0.777449	0.34225	D	1.935	0.51832	L	0.88	0.46028	T	-1.43	0.35194	N	0.601	0.61933	-1.0926	0.05112	T	0.043	0.18410	T	9	0.2092562	0.37282	T	0.005036	0.12722	T	0.059	0.16972	0.223	0.14665	0.110392049598	0.10638	0.6688793873035414	0.66825	0.772873382426	0.64864	0.384739220142	0.22926	T	0.025409	0.19004	T	-0.102409	0.36026	T	-0.38488	0.35151	T	0.19728131972261	0.20265	T	0.444256	0.12390	T	0.3503901	0.57098	0.38477552	0.63410	0.3503901	0.57098	0.38477552	0.63410	-2.476	0.05620	T	.	.	0.154	0.34049	B	.	.	1.590921	0.20349	14.71	0.89659080974924976	0.18988	0.03387	0.08494	N	AEDBI	0.040306	0.05977	N	-0.645741701249888	0.17584	0.9060965	-0.658226860579429	0.18009	0.9601681	0.999968283489663	0.48965	0.57788	0.32782	0	0.593476	0.48661	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.63	2.42	0.28720	0.739000	0.25841	.	.	0.609000	0.47794	0.001000	0.13787	0.079000	0.22353	0.881000	0.42162	0.0:0.0:0.2343:0.7657	6.976	0.23856	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	42	chr6	31680364	.	T	C	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.622;DP=741;ExcessHet=0;FS=5.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.445;SOR=0.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr6	31707506	31707506	C	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon2:c.C101A:p.P34Q,LY6G6F-LY6G6D:NM_001353334:exon2:c.C101A:p.P34Q	.	428	1079	15	0	0	15	0.0069029	.	.	.	717901	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.139	.	0.0114	0.014976	0.0051	0.0337	0.0032	0.0130	0	0.0013	0.0034	0.0018	0.0048124	744	154602	rs17200983	0.0030	0.0030	0.0031	0.0028	0.0434	0.0029	0.0029	0.0417	0.0410	0.0314	0.0042	0.0022	0.0434	7.488e-05	0.0095	0.0008	0.0031	0.0018	0.0091	0.0091	0.0092	0.0089	0.0272	0.0087	0.0085	0.0259	0.0253	0.0272	0	0.0042	0.0035	0.0129	9.414e-05	0.0102	0.0011	0.0104	0.0015	0.003	0.68238	D	0.009	0.72224	D	0.986	0.61523	D	0.875	0.62107	P	0.043055	0.23778	N	0.363277	0.94103	0.26791	N	2.175	0.60977	M	-0.26	0.67187	T	-5.21	0.83763	D	0.532	0.57946	-0.5974	0.64923	T	0.324	0.69255	T	10	0.010085255	0.00226	T	.	.	.	0.139	0.37390	.	.	0.795768335752	0.79386	0.38738915591077727	0.38653	0.407922524592	0.55844	0.424749344587	0.28490	T	0.041518	0.25883	T	-0.390205	0.02682	T	-0.309594	0.43702	T	0.0325924273897184	0.02404	T	0.608539	0.22995	T	0.14380899	0.33037	0.30740565	0.56763	0.14380899	0.33037	0.30740565	0.56762	-9.268	0.69406	D	.	.	0.345	0.57744	A	.;.	.;.	4.300067	0.65647	24.9	0.97080384997531688	0.32277	0.92006	0.54737	D	AEFDBI	0.327293	0.42830	N	0.561753839837308	0.70801	5.555142	0.519090771132242	0.69274	5.337248	0.999999992297255	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	3.599000	0.53795	.	.	0.529000	0.24592	0.806000	0.29799	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	13.738	0.62314	895	0.25842	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013072	0.010101	0.023098	0.010638	0.000000	0.000000	0.012195	0.000000	0.02632	1832.33	33	chr6	31707506	.	C	A	1832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=764;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.569;SOR=0.709	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1846,0,1732	18	0	1	0
chr6	31761521	31761521	G	A	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon22:c.G2087A:p.R696H,MSH5:NM_025259:exon22:c.G2141A:p.R714H,MSH5:NM_172165:exon22:c.G2090A:p.R697H,MSH5:NM_172166:exon22:c.G2087A:p.R696H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0586221396056	.	0.000199681	9.949e-05	0	0	0	0.0008	0.0001	0	0	8.41e-05	13	154602	rs200755245	7.048e-05	7.046e-05	6.536e-05	7.565e-05	5.306e-05	5.915e-05	5.524e-05	4.178e-05	3.825e-05	0	0	0.0002	0	0.0006	0	5.306e-05	8.282e-05	1.159e-05	2.625e-05	2.624e-05	2.569e-05	2.684e-05	2.94e-05	8.13e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	9.411e-05	0	2.94e-05	0	0	0.09	0.32929	T	0.572	0.32040	T	0.786	0.44460	P	0.647	0.52336	P	0.016059	0.28081	N	0.368409	.	.	.	1.52	0.38360	L	-2.0	0.85393	D	-2.26	0.62518	N	0.104	0.24135	-0.7139	0.59761	T	0.268	0.63982	T	9	0.065391004	0.08816	T	0.058622	0.67383	D	0.277	0.59375	.	.	0.76278811044	0.76062	0.3118363445857649	0.31096	0.894236471317	0.70360	.	.	.	0.315205	0.68683	T	-0.139859	0.29914	T	-0.241031	0.50699	T	0.240997210144997	0.22465	T	.	.	.	0.03007015	0.02607	0.04784289	0.06980	0.03007015	0.02606	0.04784289	0.06980	-7.798	0.59685	D	.	.	0.081	0.14201	B	.;.;.;.;.;.	.;.;.;.;.;.	3.716047	0.53073	23.3	0.9977357152355617	0.86088	0.03365	0.08460	N	AEFBI	0.062011	0.11895	N	-0.694003259239854	0.16191	0.8227375	-0.680688572270537	0.17444	0.9275753	0.820058255707657	0.24507	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.674467	0.66132	0	.	.	5.4	2.85	0.32333	1.332000	0.33410	.	.	-0.124000	0.13482	0.350000	0.25759	0.893000	0.27858	0.651000	0.32720	0.1498:0.0:0.144:0.7062	7.020	0.24085	895	0.25842	DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;.;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2167.33	33	chr6	31761521	.	G	A	2167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.975;DP=785;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.984;SOR=0.898	GT:AD:DP:GQ:PL	0/1:60,83:143:99:2181,0,1424	18	0	1	0
chr6	31765766	31765766	C	T	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.G2504A:p.R835Q	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00746464370839	0.0001	0.000399361	0.0004	0	0	0	0	0.0002	0.0049	0.0019	0.0003169	49	154602	rs375942272	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	6.084e-05	0	0	0	0	0.0007	9.21e-05	0.0003	0.0016	4.598e-05	4.595e-05	3.857e-05	5.373e-05	0.0008	2.109e-05	1.527e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.626	0.05214	T	0.559	0.09144	T	0.0	0.02946	B	0.0	0.01387	B	0.372373	0.04370	N	1.482110	1	0.81001	D	-1.795	0.00292	N	2.9	0.10101	T	0.99	0.01428	N	0.081	0.05670	-0.9436	0.42041	T	0.003	0.01026	T	10	0.004405588	0.00090	T	0.007465	0.19792	T	0.086	0.25016	.	.	0.0297737177859	0.01360	0.1690796181446379	0.16827	0.332585113786	0.35307	0.345605969429	0.17273	T	1.3E-4	0.00017	T	-0.672268	0.00053	T	-0.757457	0.03204	T	0.0151267207694435	0.00329	T	.	.	.	0.022651521	0.00943	0.038248375	0.03653	0.022651521	0.00943	0.038248375	0.03653	-3.306	0.13815	T	.	.	0.059	0.00793	B	.	.	1.356194	0.17643	13.29	0.41320187481001974	0.02973	0.01182	0.04236	N	AEFDBCI	0.025753	0.01818	N	-1.17849132770347	0.05326	0.2425176	-1.06338141701958	0.08430	0.414475	0.999999050489796	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	2.42	0.28720	0.307000	0.19048	.	.	-0.111000	0.15049	0.981000	0.35396	0.000000	0.08366	0.018000	0.11154	0.0:0.1831:0.1732:0.6438	4.228	0.10042	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1506.33	33	chr6	31765766	.	C	T	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=734;ExcessHet=0;FS=3.568;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.818;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr6	31770042	31770042	C	G	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon8:c.G1159C:p.G387R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.382536251345	0.0006	0.000798722	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0001	0.0002005	31	154602	rs139629177	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	3.826e-05	0.0001	9.557e-05	0.0002	0.0003	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0011	0.0001	0	0.0006	0	0	0.0004	0.0009	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	N	0.054728	0.999996	0.58761	D	2.64	0.77224	M	-4.99	0.98507	D	-6.55	0.91827	D	0.721	0.72299	1.099	0.99603	D	0.970	0.99068	D	10	0.7772854	0.77563	D	0.382536	0.93005	D	0.859	0.95691	0.554	0.67133	0.860134384049	0.85878	0.8068829448024164	0.80643	0.998807658357	0.74341	0.587986767292	0.51209	T	0.358821	0.72532	T	0.248883	0.78496	D	0.501695	0.94650	D	0.899022877216339	0.55124	D	.	.	.	0.4187118	0.62006	0.31914598	0.57878	0.4187118	0.62006	0.31914598	0.57877	-3.133	0.11679	T	.	.	0.436	0.61485	A	.	.	4.232157	0.64097	24.7	0.99939990095006093	0.99767	0.77015	0.37822	D	ALL	0.572521	0.57606	D	0.81297688879816	0.86912	9.03981	0.759839886209209	0.86892	9.036705	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.659943	0.59835	0	0.636	0.56748	0	.	.	5.77	5.77	0.91077	2.762000	0.47278	.	.	0.596000	0.33519	0.999000	0.42656	0.061000	0.22037	0.949000	0.49496	0.0:1.0:0.0:0.0	17.476	0.87552	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1235.33	39	chr6	31770042	.	C	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.5;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.056;SOR=0.742	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr6	31810376	31810376	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G1597C:p.V533L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00740654503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0021	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	2.525e-05	0	0	0.0002	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.161	0.31326	T	0.013	0.16609	B	0.056	0.26147	B	0.185742	0.03214	N	1.966570	1	0.08975	N	-1.105	0.00963	N	5.53	0.00894	T	-0.49	0.15578	N	0.115	0.10340	-0.9371	0.43072	T	0.001	0.00222	T	10	0.03462872	0.01678	T	0.007407	0.19657	T	0.029	0.06676	0.357	0.35897	0.371718192555	0.36778	0.15855101505881897	0.15776	0.267744745311	0.29313	0.328189313412	0.14660	T	0.004791	0.04206	T	-0.333095	0.05880	T	-0.716245	0.04979	T	0.153081059455872	0.17347	T	.	.	.	0.05782822	0.11556	0.0916961	0.21573	0.05782822	0.11556	0.0916961	0.21572	-3.124	0.11574	T	.	.	0.079	0.07365	B	.	.	-0.100834	0.03638	0.723	0.73951968360265008	0.10515	0.09685	0.15385	N	AEFBI	0.130493	0.24906	N	-1.10104396103768	0.06625	0.305511	-1.06678862214965	0.08361	0.410748	0.988801212773729	0.31633	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.55	-0.647	0.10892	-0.207000	0.09388	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.3308:0.2673:0.4019	5.069	0.13935	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	324.25	143	chr6	31810376	.	C	G	324.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-4.257;DP=2402;ExcessHet=0.3672;FS=193.172;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=1.37;SOR=10.125	GT:AD:DP:GQ:PL	0/0:105,38:143:31:0,31,2076	14	0	3	2
chr6	31810463	31810463	T	C	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.A1510G:p.T504A	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0143312323943	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755419733	1.163e-05	1.231e-05	5.446e-06	1.788e-05	0.0002	7.09e-06	5.79e-06	0.0001	9.451e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.03	0.54159	D	0.943	0.53072	P	0.971	0.72444	D	0.002993	0.35606	N	0.000000	0.999998	0.58761	D	3.35	0.91085	M	5.38	0.01033	T	-3.17	0.64363	D	0.819	0.81459	-1.1854	0.00296	T	0.021	0.08686	T	10	0.8261435	0.81794	D	0.014331	0.34374	T	0.393	0.70844	0.657	0.79482	0.795191206146	0.79328	0.16562987761433795	0.16482	0.913928028628	0.71167	0.688356697559	0.65469	T	0.088931	0.38264	T	-0.0605375	0.42823	T	-0.0880659	0.64307	T	0.783038762493839	0.45241	D	.	.	.	0.23403813	0.46217	0.24778363	0.50316	0.23403813	0.46217	0.24778363	0.50315	-7.628	0.58506	D	.	.	0.133	0.28664	B	.	.	4.112968	0.61418	24.3	0.99811218399199864	0.89531	0.99138	0.91786	D	AEFBI	0.910071	0.86752	D	0.976953971306637	0.94991	13.21348	0.896101849767979	0.95400	13.58625	0.999999999865998	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.017000	0.88732	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.687	0.61999	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2092.33	143	chr6	31810463	.	T	C	2092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=2455;ExcessHet=0;FS=4.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.392;SOR=0.579	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	18	0	1	0
chr6	31811671	31811671	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G302C:p.G101A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00853167666804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.031	0.53788	D	0.287	0.32229	B	0.276	0.40142	B	.	.	.	.	0.999998	0.58761	D	3.665	0.94315	H	3.69	0.04114	T	-3.06	0.63090	D	0.292	0.33030	-1.2036	0.00124	T	0.021	0.09056	T	9	0.23843056	0.40964	T	0.008532	0.22557	T	0.171	0.43483	0.534	0.64293	0.490976584422	0.48732	0.5396485020571034	0.53889	0.40947928161	0.41761	0.438640117645	0.30392	T	0.083404	0.37047	T	-0.140352	0.29833	T	-0.439383	0.28879	T	0.45025418698659	0.30806	T	.	.	.	0.39149976	0.60139	0.4857083	0.70233	0.39149976	0.60139	0.4857083	0.70233	-6.731	0.52043	T	.	.	0.165	0.36396	B	.	.	2.880917	0.38127	20.7	0.97353717228145775	0.33534	0.92184	0.55132	D	AEFBI	0.644902	0.62099	D	0.162173327532383	0.49390	3.139929	0.130714219106315	0.46126	2.863918	0.999918503271095	0.45857	0.615465	0.37627	0	0.624146	0.53433	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.36	2.55	0.29757	2.663000	0.46440	.	.	0.549000	0.26987	0.820000	0.29989	0.000000	0.08366	0.998000	0.85391	0.0:0.8088:0.0:0.1912	8.790	0.34003	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	339.14	40	chr6	31811671	.	C	G	339.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.514;DP=2094;ExcessHet=0;FS=324.839;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.46;SOR=8.688	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	16	0	1	2
chr6	31811951	31811951	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G22C:p.A8P	.	423	1080	18	1	0	20	0.00917431	.	.	.	3199888	HSPA1L-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.320	.	0.0091	0.0127796	0.0082	0.0202	0.0056	0.0308	0.0009	0.0032	0.0045	0.0137	0.0076842	1188	154602	rs9469057	0.0050	0.0050	0.0048	0.0052	0.0180	0.0049	0.0049	0.0168	0.0163	0.0180	0.0064	0.0018	0.0149	0.0011	0.0085	0.0037	0.0056	0.0142	0.0091	0.0092	0.0093	0.0089	0.0210	0.0087	0.0086	0.0198	0.0194	0.0210	0.0044	0.0082	0.0017	0.0174	0.0009	0.0136	0.0029	0.0095	0.0126	0.001	0.78490	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.245	0.89746	M	5.35	0.01058	T	-2.43	0.53258	N	0.93	0.93487	-1.1250	0.02037	T	0.015	0.05897	T	9	0.009037763	0.00205	T	.	.	.	0.320	0.64215	.	.	0.804076220207	0.80224	0.8705451288780163	0.87020	1.08423785368	0.77231	0.65280854702	0.60385	T	0.03809	0.24714	T	-0.386849	0.02819	T	-0.307509	0.43926	T	0.0525045388649878	0.05934	T	.	.	.	0.8221863	0.85367	0.84063107	0.90880	0.8221863	0.85368	0.84063107	0.90880	-9.739	0.72335	D	.	.	0.362	0.57336	A	.	.	3.514963	0.49240	22.7	0.99572976995509554	0.72501	0.98945	0.88990	D	AEFBI	0.855076	0.77215	D	0.494829639034628	0.66786	4.995523	0.306917642470237	0.55944	3.75743	0.999999687590552	0.74766	0.660377	0.49826	0	0.596877	0.49441	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	4.905000	0.62982	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.0:1.0:0.0:0.0	14.951	0.70724	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007625	0.005051	0.005435	0.010753	0.000000	0.008621	0.009146	0.000000	0.02632	1631.33	40	chr6	31811951	.	C	G	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=859;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.183;SOR=0.783	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	31862023	31862023	C	T	exonic	NEU1	.	nonsynonymous SNV	NEU1:NM_000434:exon2:c.G328A:p.A110T	Sialidosis, type I, Autosomal recessive;Sialidosis, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.11304479133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.063	0.36709	T	0.072	0.43344	T	0.998	0.73220	D	0.919	0.65474	D	0.000001	0.84330	D	0.054224	1	0.81001	D	1.995	0.54099	M	-0.75	0.73311	T	-2.75	0.58407	D	0.508	0.53972	0.118	0.84496	D	0.533	0.82689	D	10	0.80897105	0.80202	D	0.113045	0.79141	D	0.595	0.83911	0.523	0.62668	0.984789541883	0.98462	0.9052666164538027	0.90499	1.28758288876	0.82701	0.524445533752	0.42253	T	0.877027	0.97391	D	0.293553	0.82446	D	0.183892	0.82220	D	0.991393327713013	0.81685	D	.	.	.	0.5985664	0.72614	0.56361705	0.74746	0.5985664	0.72615	0.56361705	0.74747	-7.335	0.56444	T	.	.	0.341	0.55984	A	.	.	5.268264	0.88460	29.6	0.99930402034305421	0.99334	0.90837	0.52354	D	AEFDBCI	0.737721	0.68282	D	0.738400745365759	0.82147	7.691571	0.678803220781955	0.80773	7.373867	0.999999999999958	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.581341	0.30212	0	0.638787	0.57140	0	.	.	5.09	5.09	0.68647	5.440000	0.66312	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	16.044	0.80514	906	0.23090	Sialidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2486.33	35	chr6	31862023	.	C	T	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-1.108;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr6	31865371	31865371	C	G	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon16:c.G1578C:p.K526N,SLC44A4:NM_001178045:exon17:c.G1476C:p.K492N,SLC44A4:NM_025257:exon17:c.G1704C:p.K568N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0447832954578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.022	0.58613	D	0.854	0.47077	P	0.93	0.66466	D	0.000026	0.55875	D	0.117824	0.999998	0.58761	D	2.895	0.83812	M	1.59	0.28836	T	-3.75	0.71157	D	0.575	0.61087	-0.8648	0.50915	T	0.135	0.44914	T	10	0.64299285	0.69164	D	0.044783	0.61661	D	0.252	0.56159	0.678	0.81594	0.0716867268079	0.06686	0.8031514351359627	0.80269	0.882173084537	0.69812	0.672191441059	0.63150	T	0.025851	0.19251	T	-0.105859	0.35454	T	-0.389836	0.34570	T	0.992635309696198	0.83166	D	.	.	.	0.29120803	0.52104	0.38470626	0.63405	0.29120803	0.52104	0.38470626	0.63405	-9.69	0.72035	D	.	.	0.499	0.67639	A	.;.;.;.	.;.;.;.	4.005324	0.59046	24.1	0.99837324252008464	0.91800	0.86919	0.46310	D	ALL	0.671946	0.63852	D	0.437119614404471	0.63476	4.582102	0.367040686711943	0.59539	4.132793	1.0	0.98316	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.25	4.38	0.52019	0.038000	0.13749	.	.	-0.190000	0.09434	0.911000	0.31706	0.999000	0.35428	0.940000	0.48062	0.0:0.7618:0.1554:0.0828	8.480	0.32197	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1800.33	41	chr6	31865371	.	C	G	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=802;ExcessHet=0;FS=1.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.293;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1382	18	0	1	0
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107961	0.272727	0.058424	0.026596	0.250000	0.051724	0.138037	0.094697	0.05263	5178.79	38	chr6	31954625	.	TCGATCC	T	5178.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=1081;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=0.756;SOR=0.645	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1308	17	0	2	0
chr6	31972156	31972156	T	A	exonic	STK19	.	nonsynonymous SNV	STK19:NM_032454:exon1:c.T160A:p.C54S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00287902383441	7.7e-05	.	5.235e-05	0	8.809e-05	0	0	8.032e-05	0	0	4.53e-05	7	154602	rs148790657	2.465e-05	2.463e-05	1.907e-05	3.028e-05	0.0003	1.805e-05	1.602e-05	6.096e-05	2.522e-05	0	6.713e-05	0	0	3.81e-05	0.0003	2.249e-05	1.656e-05	3.48e-05	2.629e-05	2.627e-05	0	5.38e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0	0	0	0.0032	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.540094	0.05308	N	1.345940	0.999331	0.21346	N	0.805	0.20218	L	0.57	0.54347	T	-9.38	0.98366	D	0.079	0.07262	-1.0750	0.08348	T	0.027	0.11441	T	10	0.0584251	0.06866	T	0.002879	0.06074	T	0.031	0.07369	0.262	0.20631	0.0716867268079	0.06686	0.03934026499271113	0.03880	0.769041256534	0.64673	0.599627494812	0.52851	T	0.002426	0.01816	T	-0.301193	0.08548	T	-0.472776	0.25218	T	0.102464860913081	0.12626	T	0.355964	0.08087	T	0.078457646	0.17868	0.14026846	0.33440	0.078457646	0.17868	0.14026846	0.33440	-1.85	0.02662	T	.	.	0.430	0.61203	A	.;.;.	.;.;.	-0.121577	0.03515	0.666	0.7763713262115759	0.11959	0.00162	0.00966	N	ALL	0.057450	0.10701	N	-1.6982619228286	0.00848	0.036681	-1.84276231887326	0.00632	0.02807231	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.54	-9.07	0.00619	-3.969000	0.00364	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2919:0.3089:0.2382:0.161	1.128	0.01632	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1283.33	39	chr6	31972156	.	T	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=839;ExcessHet=0;FS=3.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.018;SOR=1.081	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.02632	231.34	34	chr6	31996544	.	T	C	231.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.78;DP=815;ExcessHet=0;FS=28.197;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=57.59;MQRankSum=-10.56;QD=2.05;ReadPosRankSum=-0.376;SOR=4.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1128:.	18	0	1	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.05263	2232.83	34	chr6	31996553	.	T	G	2232.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.624;DP=961;ExcessHet=0.119;FS=8.928;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.41;MQRankSum=-3.984;QD=10.95;ReadPosRankSum=0.495;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1128:.	17	0	2	0
chr6	32009107	32009107	C	A	exonic	TNXB	.	unknown	UNKNOWN	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	291.72	36	chr6	32009107	.	C	A	291.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.622;DP=607;ExcessHet=0;FS=5.051;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=31.08;MQRankSum=-2.102;QD=6.08;ReadPosRankSum=-1.336;SOR=0.048	GT:AD:DP:GQ:PL	./.:.:.:.:.	17	0	1	1
chr6	32041842	32041842	C	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1849T:p.G617W,TNXB:NM_001365276:exon43:c.G12562T:p.G4188W,TNXB:NM_019105:exon43:c.G12556T:p.G4186W	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.908	0.779008304106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000099	0.51296	D	0.000000	1	0.81001	D	.	.	.	-5.49	0.99138	D	-5.33	0.93582	D	0.812	0.80767	1.013	0.97405	D	0.986	0.99581	D	10	0.9366356	0.92993	D	0.779008	0.98258	D	0.908	0.97512	.	.	0.754671638406	0.75244	0.7737236296051131	0.77322	3.28525368344	0.99565	0.896864652634	0.96084	D	0.357466	0.72416	T	0.417196	0.90873	D	0.361497	0.90759	D	0.999643683433533	0.98300	D	0.983202	0.95043	D	0.869265	0.88803	0.7606596	0.85859	0.869265	0.88805	0.7606596	0.85859	-17.089	0.99020	D	0.1236965176844058	0.12025	0.972	0.89696	P	.;.;.;.;.	.;.;.;.;.	5.811695	0.93659	33	0.99442270727723703	0.64820	0.98844	0.87601	D	AEFGI	0.909934	0.86721	D	0.957377444383551	0.94275	12.63189	0.835118750017546	0.92116	11.24564	0.999999972053387	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	7.848000	0.85199	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.34	30	chr6	32041842	.	C	A	62.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.838;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=29.38;MQRankSum=2;QD=5.19;ReadPosRankSum=-0.98;SOR=0.148	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	18	0	1	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.02632	192.36	11	chr6	32043548	.	C	T	192.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=275;ExcessHet=0;FS=0;InbreedingCoeff=-0.0293;MLEAC=1;MLEAF=0.026;MQ=38.64;MQRankSum=1.07;QD=10.12;ReadPosRankSum=-0.132;SOR=0.223	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,555	18	0	1	0
chr6	32061472	32061472	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon21:c.C7417T:p.R2473C,TNXB:NM_019105:exon21:c.C7417T:p.R2473C	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	421586	not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|Vesicoureteral_reflux_8|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MONDO:MONDO:0014422,MedGen:C4014831,OMIM:615963,Orphanet:289365|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.347	.	.	0.00379393	0.0031	0.0001	8.651e-05	0.0008	0	0.0001	0.0057	0.0207	0.0011526	30	26028	rs373029180	0.0013	0.0013	0.0007	0.0019	0.0198	0.0013	0.0012	0.0190	0.0187	8.966e-05	0	3.827e-05	0.0004	0	0.0012	7.915e-05	0.0014	0.0198	0.0007	0.0007	0.0003	0.0011	0.0174	0.0006	0.0006	0.0144	0.0133	0.0001	0	6.539e-05	0	0.0023	0	0	5.884e-05	0.0005	0.0174	0.036	0.43393	D	0.001	0.83351	D	.	.	.	.	.	.	0.274653	0.15060	N	0.626671	0.974796	0.25471	N	.	.	.	0.3	0.58755	T	-3.51	0.68298	D	0.453	0.49055	-0.7488	0.57998	T	0.273	0.64432	T	10	0.008589447	0.00195	T	.	.	.	0.347	0.66863	.	.	0.326837869879	0.32287	.	.	.	.	0.328807473183	0.14754	T	0.235474	0.60273	T	-0.375418	0.03329	T	-0.299714	0.44755	T	0.0938016627241007	0.11661	T	0.107389	0.12912	T	0.32205868	0.54813	0.30776522	0.56797	0.16461867	0.36680	0.13452816	0.32233	-8.578	0.64944	D	0.12405502670006753	0.12113	0.147	0.36234	B	.;.;.;.	.;.;.;.	3.770412	0.54150	23.5	0.99887879052742701	0.96281	0.35984	0.25428	N	AEFBI	0.277952	0.39235	N	0.197062443366264	0.51058	3.290189	0.0162939181947415	0.40470	2.415804	0.928051268315595	0.26913	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.28	4.28	0.50183	1.643000	0.36833	.	.	-0.168000	0.11412	0.007000	0.17678	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	13.748	0.62369	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003813	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2953.33	101	chr6	32061472	.	G	A	2953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=2217;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.54;MQRankSum=-5.6;QD=16.05;ReadPosRankSum=0.245;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,79:184:99:0|1:32061472_G_A:2967,0,4059:32061472	18	0	1	0
chr6	32073884	32073884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon12:c.G4444A:p.V1482M,TNXB:NM_019105:exon12:c.G4444A:p.V1482M	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1511	10	1	0	12	0.00395517	.	.	.	612742	Cardiovascular_phenotype|not_provided|Ehlers-Danlos_syndrome|TNXB-related_disorder	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.330	0.0158133463884	0.0017	0.000599042	0.0018	0.0005	0.0022	0	0.0003	0.0026	0.0062	6.749e-05	0.0015136	234	154602	rs61740336	0.0016	0.0016	0.0015	0.0016	0.0050	0.0015	0.0015	0.0036	0.0031	0.0003	0.0019	0.0104	0	0.0003	0.0050	0.0015	0.0022	0.0001	0.0018	0.0018	0.0020	0.0015	0.0025	0.0016	0.0015	0.0022	0.0020	0.0004	0.0011	0.0020	0.0101	0	0.0004	0.0068	0.0025	0.0038	0	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	0.001638	0.38439	N	0.000000	0.724384	0.29891	N	.	.	.	0.13	0.60973	T	-2.04	0.46842	N	0.444	0.48227	-0.2364	0.76720	T	0.382	0.73862	T	10	0.010581881	0.00235	T	0.015813	0.36746	T	0.330	0.65226	.	.	0.697913142273	0.69531	.	.	.	.	0.55616748333	0.46726	T	0.270412	0.64268	T	-0.310216	0.07729	T	-0.223618	0.52388	T	0.0547379265471371	0.06314	T	0.775622	0.53747	T	0.15224087	0.34569	0.15292166	0.35958	0.15712823	0.35422	0.116435155	0.28108	-9.282	0.69494	D	0.12497254194179234	0.12352	0.189	0.40650	B	.;.;.	.;.;.	3.609741	0.51028	23.0	0.99909723046166476	0.97949	0.89983	0.50814	D	AEFBI	0.381915	0.46399	N	0.691903494542922	0.79101	7.007355	0.591832226995635	0.74350	6.122586	0.999043883223171	0.38290	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	3.206000	0.50800	.	.	0.549000	0.26987	0.969000	0.34210	0.997000	0.33255	0.064000	0.16252	0.0:0.8327:0.1673:0.0	12.561	0.55629	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005991	0.000000	0.004076	0.000000	0.000000	0.017241	0.018293	0.000000	0.02632	1721.33	36	chr6	32073884	.	C	T	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=757;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.459;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	245.84	202	chr6	32084509	.	T	C	245.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.312;DP=1216;ExcessHet=0.119;FS=93.345;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.943;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1295:.	17	0	2	0
chr6	32089024	32089024	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon6:c.G2540A:p.R847Q,TNXB:NM_019105:exon6:c.G2540A:p.R847Q	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1209225	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0347974571579	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0003	9.7e-05	15	154602	rs200283439	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.977e-05	4.479e-05	0	0	0	0	0.0002	0.0001	0.0002	9.859e-05	9.85e-05	8.994e-05	0.0001	0.0004	6.008e-05	4.881e-05	0.0001	8.878e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.107	0.29554	T	0.003	0.76473	D	.	.	.	.	.	.	0.008835	0.30645	N	0.151669	0.998795	0.21902	N	.	.	.	0.43	0.56772	T	-1.96	0.45404	N	0.169	0.17966	-0.9846	0.33927	T	0.111	0.39794	T	10	0.23756093	0.40860	T	0.034797	0.55917	D	0.289	0.60808	.	.	0.292174397486	0.28832	.	.	.	.	0.599798202515	0.52876	T	0.045179	0.27044	T	-0.422756	0.01643	T	-0.575736	0.14927	T	0.620719909667969	0.37235	D	0.89481	0.63428	D	0.22476026	0.45124	0.15259004	0.35893	0.22476026	0.45124	0.15259004	0.35892	-7.164	0.55222	T	0.12595731451978873	0.12627	0.115	0.32251	B	.;.;.;.	.;.;.;.	4.898637	0.80495	27.3	0.99952181649395178	0.99951	0.60459	0.31201	D	AEFDBI	0.113700	0.22423	N	0.274130873158944	0.54840	3.648836	0.296675928653363	0.55345	3.697657	0.999998269273507	0.74766	0.608966	0.35542	0	0.627178	0.54094	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	5.55	4.68	0.58319	1.669000	0.37108	.	.	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.999000	0.91618	0.0:0.9178:0.0:0.0822	12.574	0.55705	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1774.33	38	chr6	32089024	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=769;ExcessHet=0;FS=3.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.567;SOR=1.033	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S,TNXB:NM_019105:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1487	34	1	0	36	0.0119601	.	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004907	0.000000	0.001359	0.005319	0.000000	0.000000	0.006098	0.015152	0.02632	751.33	34	chr6	32089253	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=734;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.833;SOR=0.954	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr6	32121073	32121073	A	G	exonic	ATF6B	.	nonsynonymous SNV	ATF6B:NM_001136153:exon7:c.T607C:p.S203P,ATF6B:NM_004381:exon7:c.T616C:p.S206P	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00444337634	0.0022	0.00159744	0.0015	0.0046	0.0014	0.0002	0	0.0012	0.0038	0.0017	0.0013648	211	154602	rs140584533	0.0011	0.0011	0.0010	0.0011	0.0115	0.0010	0.0010	0.0093	0.0084	0.0066	0.0020	0.0022	5.067e-05	7.837e-05	0.0115	0.0008	0.0016	0.0017	0.0022	0.0022	0.0024	0.0021	0.0050	0.0020	0.0020	0.0044	0.0042	0.0050	0	0.0022	0.0026	0	9.406e-05	0.0136	0.0011	0.0033	0.0014	0.548	0.06627	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.885303	0.08726	N	0.929566	0.999999	0.08975	N	-1.87	0.00254	N	0.6	0.53731	T	0.07	0.06138	N	0.045	0.01740	-0.9690	0.37407	T	0.019	0.07893	T	10	0.003584236	0.00065	T	0.004443	0.10875	T	0.041	0.10877	.	.	0.328222422547	0.32431	0.19318305976576627	0.19236	0.578000481704	0.53709	0.279920548201	0.07481	T	0.225287	0.58997	T	-0.618675	0.00112	T	-0.659679	0.08288	T	0.00125377839550221	0.00012	T	0.542646	0.18460	T	0.050082102	0.08992	0.12426625	0.29954	0.050082102	0.08991	0.12426625	0.29953	-2.228	0.04204	T	.	.	0.049	0.00168	B	.;.;.	.;.;.	1.117100	0.15028	11.53	0.097082401427618592	0.00105	0.02028	0.06083	N	AEFBI	0.037723	0.05230	N	-1.02361252581102	0.08115	0.3794002	-0.855651376837283	0.13152	0.6807117	0.929938969897457	0.26987	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	3.11	0.34883	0.931000	0.28471	.	.	-0.137000	0.12594	0.851000	0.30461	1.000000	0.68203	0.166000	0.20848	0.2174:0.0:0.7826:0.0	7.034	0.24164	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010349	0.010101	0.014946	0.015957	0.000000	0.000000	0.012195	0.000000	0.02632	1526.33	40	chr6	32121073	.	A	G	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.43;DP=764;ExcessHet=0;FS=2.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.735;SOR=0.669	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1540,0,1339	18	0	1	0
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S	.	0	1469	52	1	0	54	0.0180481	.	.	.	3220457	FKBPL-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006536	0.000000	0.004076	0.010638	0.000000	0.008621	0.009146	0.003788	0.05263	3063.83	109	chr6	32129698	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.47;DP=873;ExcessHet=0.119;FS=0.46;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.84;SOR=0.636	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr6	32149330	32149330	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C813G:p.F271L,PRRT1:NM_001363780:exon6:c.C570G:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.148155155941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.0	0.92824	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	0.999619	0.47849	D	0.525	0.13617	N	-1.78	0.83737	D	-0.82	0.22508	N	0.645	0.67045	-0.4564	0.70188	T	0.305	0.67547	T	9	0.439994	0.58039	T	0.148155	0.83010	D	0.517	0.79400	0.597	0.72739	0.59450981025	0.59129	0.9585500676116478	0.95840	.	.	0.864538431168	0.91779	D	0.402142	0.75924	T	0.172013	0.71307	D	0.00930888	0.70937	D	0.766876399517059	0.44253	D	0.842016	0.51794	T	0.19066913	0.40662	0.37802637	0.62889	0.19066913	0.40661	0.37802637	0.62889	-4.665	0.49751	T	.	.	1.000	0.99395	P	.;.	.;.	3.785972	0.54463	23.5	0.99391392361005004	0.62337	0.87135	0.46584	D	AEFDBCI	0.842920	0.75998	D	0.0224924021030136	0.42879	2.591973	0.148259771449305	0.47050	2.941146	0.999999968885374	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.12	0.47504	4.781000	0.62082	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0924:0.0:0.9076:0.0	10.970	0.46646	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	182.22	127	chr6	32149330	.	G	C	182.22	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-3.792;DP=1827;ExcessHet=0.119;FS=77.934;InbreedingCoeff=-0.1563;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.61;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1023:.	12	0	2	5
chr6	32149333	32149333	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C810G:p.N270K,PRRT1:NM_001363780:exon6:c.C567G:p.N189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.156792939211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	1.232e-05	1.368e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12148	T	0.0	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.990679	0.41211	D	0.225	0.09600	N	-1.92	0.84773	D	-0.56	0.17834	N	0.569	0.60156	-0.6100	0.64403	T	0.266	0.63759	T	9	0.29297018	0.46873	T	0.156793	0.83749	D	0.320	0.64215	0.442	0.49811	0.432604763906	0.42882	0.9495468269291918	0.94937	.	.	0.832174420357	0.86896	D	0.305599	0.67785	T	0.00976619	0.52993	T	-0.223748	0.52376	T	0.799855828285217	0.46343	D	0.846715	0.52677	T	0.090187326	0.21096	0.22930492	0.47998	0.090187326	0.21095	0.22930492	0.47997	-11.583	0.82760	D	.	.	1.000	0.99057	P	.;.	.;.	3.894575	0.56694	23.8	0.99712765615919852	0.81493	0.79475	0.39389	D	AEFDBCI	0.743137	0.68653	D	-0.297331295681822	0.29251	1.620488	-0.196946103386401	0.31649	1.793061	0.999727187316475	0.42220	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	0.743	0.17496	3.244000	0.51098	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4105:0.0:0.5895:0.0	8.761	0.33831	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	195.32	117	chr6	32149333	.	G	C	195.32	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.206;DP=1918;ExcessHet=0.119;FS=77.934;InbreedingCoeff=-0.3343;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=2.4;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:103,0:103:0:.:.:0,0,2145:.	2	0	2	15
chr6	32149334	32149334	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A809G:p.N270S,PRRT1:NM_001363780:exon6:c.A566G:p.N189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.279884387657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.0	0.92824	D	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	0.999498	0.47278	D	1.24	0.30952	L	-2.01	0.85468	D	-0.63	0.18459	N	0.425	0.47487	-0.2691	0.75835	T	0.440	0.77871	T	9	0.36402738	0.52958	T	0.279884	0.90192	D	0.354	0.67510	0.418	0.45873	0.645989072673	0.64305	0.9062892947861514	0.90601	.	.	0.748579621315	0.74237	T	0.344234	0.71277	T	-0.0297985	0.47447	T	-0.28058	0.46746	T	0.798602044582367	0.46259	D	0.923008	0.71997	D	0.20115644	0.42116	0.2331584	0.48498	0.20115644	0.42116	0.2331584	0.48497	-5.308	0.40022	T	.	.	0.970	0.89480	P	.;.	.;.	4.519567	0.70844	25.6	0.998061028404575	0.89085	0.87146	0.46598	D	AEFDBCI	0.917338	0.88479	D	0.19664931557694	0.51037	3.288361	0.299307556983304	0.55498	3.712904	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	4.245000	0.58529	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.651	0.56123	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	187.25	129	chr6	32149334	.	T	C	187.25	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.231;DP=1740;ExcessHet=0.119;FS=78.932;InbreedingCoeff=-0.2392;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.37;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	6	0	2	11
chr6	32149335	32149335	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A808G:p.N270D,PRRT1:NM_001363780:exon6:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.400916255884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	0.999493	0.47278	D	2.135	0.59519	M	-2.04	0.85703	D	-1.93	0.44852	N	0.619	0.63459	-0.0745	0.80676	T	0.541	0.83061	D	9	0.75981003	0.76259	D	0.400916	0.93395	D	0.503	0.78538	0.424	0.46857	0.803059469338	0.80121	0.9647599365794287	0.96462	.	.	0.820193946362	0.85057	D	0.648274	0.89295	D	0.0859516	0.62729	D	-0.114313	0.62265	T	0.961165368556976	0.66006	D	0.866613	0.56692	D	0.26133597	0.49192	0.30988634	0.57001	0.26133597	0.49192	0.30988634	0.57001	-12.378	0.86643	D	.	.	0.997	0.96404	P	.;.	.;.	5.523751	0.91805	32	0.99762601442043608	0.85172	0.87146	0.46598	D	AEFDBCI	0.921079	0.89399	D	0.513129237172383	0.67865	5.139079	0.524206799003174	0.69622	5.386896	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	6.993000	0.76009	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.651	0.56123	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.89	129	chr6	32149335	.	T	C	184.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.891;DP=1830;ExcessHet=0.119;FS=79.587;InbreedingCoeff=-0.0549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.42;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	17	0	2	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	185.99	132	chr6	32149340	.	G	A	185.99	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-1.629;DP=1633;ExcessHet=0.119;FS=77.021;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=2.73;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	12	0	2	5
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.05263	4260.83	33	chr6	32181363	.	C	T	4260.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=890;ExcessHet=0.119;FS=1.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.15;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	17	0	2	0
chr6	32182963	32182963	G	T	exonic	AGER	.	stopgain	AGER:NM_001136:exon6:c.C569A:p.S190X,AGER:NM_001206929:exon6:c.C617A:p.S206X,AGER:NM_001206932:exon6:c.C527A:p.S176X,AGER:NM_001206934:exon6:c.C617A:p.S206X,AGER:NM_001206936:exon6:c.C569A:p.S190X,AGER:NM_001206940:exon6:c.C569A:p.S190X,AGER:NM_001206954:exon6:c.C569A:p.S190X,AGER:NM_001206966:exon6:c.C569A:p.S190X,AGER:NM_172197:exon6:c.C527A:p.S176X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.606e-06	0	0	0	0	1.58e-05	0	0	6.5e-06	1	154602	rs766063160	6.162e-06	6.156e-06	5.45e-06	6.881e-06	0.0003	2.9e-06	2.1e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000081	0.52346	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436705	0.91863	D	0.38952	0.91763	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	8.387534	0.97504	37	0.99316928179798991	0.59241	0.90109	0.51032	D	AEFBCI	0.052838	0.09468	N	0.704024676738869	0.79898	7.175712	0.538862912005789	0.70627	5.532966	0.999999975832824	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.3	5.3	0.74745	5.073000	0.64223	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	14.453	0.66971	929	0.16858	.;.;.;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1575.33	99	chr6	32182963	.	G	T	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.125;DP=1144;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.479;SOR=0.789	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr6	32220260	32220260	A	G	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon7:c.T1184C:p.M395T	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.176709408394	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs779873838	1.095e-05	1.094e-05	5.447e-06	1.651e-05	0.0002	6.48e-06	5.25e-06	0.0001	8.646e-05	0	0	0	0	0	0	0	1.657e-05	0.0002	6.572e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.028	0.46129	D	0.202	0.27414	T	0.199	0.29618	B	0.003	0.08700	B	0.004766	0.33407	N	0.136255	0.712206	0.30003	N	-0.32	0.03561	N	-2.16	0.86549	D	-0.87	0.23590	N	0.338	0.37923	-0.3727	0.72879	T	0.317	0.68664	T	10	0.33978435	0.51059	T	0.176709	0.85239	D	0.361	0.68141	0.38	0.39645	0.702675869028	0.70009	0.7140479947542274	0.71347	0.292063610931	0.31614	0.44973012805	0.31906	T	0.017118	0.14025	T	-0.142736	0.29456	T	-0.206139	0.54064	T	0.452609300613403	0.30893	T	0.789521	0.42989	T	0.095030166	0.22357	0.35966188	0.61421	0.095030166	0.22357	0.35966188	0.61421	-4.023	0.24147	T	.	.	0.140	0.30555	B	.	.	1.453085	0.18743	13.90	0.98348709051046068	0.40517	0.75141	0.36778	D	AEFDBI	0.230718	0.35405	N	-0.395392706955488	0.25631	1.392893	-0.353351526256185	0.26406	1.458295	0.533082350634125	0.21191	0.460665	0.09802	0	0.563428	0.19063	0	0.547309	0.15389	0	0.636168	0.56350	0	.	.	4.17	0.027	0.13471	3.308000	0.51605	.	.	0.691000	0.84096	1.000000	0.71638	0.009000	0.19889	0.992000	0.67800	0.3777:0.5249:0.0974:0.0	6.276	0.20190	934	0.15400	EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	35	chr6	32220260	.	A	G	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.74;DP=714;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.174;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	18	0	1	0
chr6	32394987	32394987	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon6:c.G1117A:p.E373K	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00288147289926	.	.	3.395e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs770688339	1.371e-05	1.368e-05	8.18e-06	1.93e-05	0.0002	8.95e-06	7.28e-06	8.935e-05	7.091e-05	0	0	0	0	0	0	5.404e-06	1.659e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.17761	T	1.0	0.05958	T	0.0	0.02946	B	0.001	0.04355	B	0.748600	0.09718	N	0.865215	1	0.08975	N	-0.785	0.01646	N	3.79	0.03836	T	-0.37	0.49519	N	0.141	0.14054	-0.9198	0.45581	T	0.001	0.00467	T	10	0.03578961	0.01845	T	0.002881	0.06074	T	0.054	0.15330	0.495	0.58363	0.0551355673512	0.04727	0.3495288226787345	0.34866	0.406478129332	0.41524	0.433173656464	0.29642	T	0.011879	0.10530	T	-0.534278	0.00362	T	-0.768561	0.02815	T	0.0414555472578881	0.03954	T	.	.	.	0.036590304	0.04531	0.039003424	0.03894	0.036590304	0.04531	0.039003424	0.03894	-4.378	0.29257	T	.	.	0.055	0.01645	B	.;.;.	.;.;.	-0.574133	0.01643	0.115	0.64305507731036582	0.07457	0.00143	0.00871	N	AEFDBI	0.021979	0.01043	N	-1.7573819320096	0.00658	0.02838672	-1.68947197048924	0.01184	0.05331171	0.996662769246656	0.34909	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	5.08	-0.244	0.12388	0.055000	0.14112	.	.	-2.030000	0.00430	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2617:0.1625:0.5758	4.394	0.10785	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	683.33	38	chr6	32394987	.	C	T	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.643;DP=840;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=-1.286;SOR=1.093	GT:AD:DP:GQ:PL	0/1:60,28:88:99:697,0,1714	18	0	1	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N	.	421	1020	78	3	0	84	0.039548	.	.	.	3500764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.051198	0.025253	0.065217	0.031915	0.100000	0.094828	0.070122	0.034091	0.05263	6006.83	233	chr6	32405014	.	C	T	6006.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=1056;ExcessHet=0.119;FS=10.618;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.144;SOR=0.318	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1215	17	0	2	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	493.65	225	chr6	32443853	.	C	G	493.65	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.718;DP=3186;ExcessHet=0.7564;FS=285.125;InbreedingCoeff=-0.1324;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.58;SOR=11.58	GT:AD:DP:GQ:PL	0/0:147,41:188:1:0,1,3271	15	0	4	0
chr6	32521948	32521949	TC	-	exonic	HLA-DRB5	.	frameshift deletion	HLA-DRB5:NM_002125:exon2:c.326_327del:p.R109Tfs*7	.	33	1453	33	0	3	36	0.0112283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0	0	0	0	0.0004	0.0123	0.0051	0.0004334	67	154602	rs781723874	0.0003	0.0003	0.0001	0.0004	0.0029	0.0003	0.0002	0.0026	0.0024	0	0	0	0	2.09e-05	0.0006	0.0001	0.0004	0.0029	7.185e-05	8.733e-05	3.518e-05	0.0001	0.0020	3.484e-05	2.527e-05	0.0009	0.0007	0	0	0	0	0	0	0	2.033e-05	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001115	0.000000	0.000000	0.000000	0.000000	0.000000	0.006369	0.000000	0.02632	6716.5	8	chr6	32521947	.	GTC	G	6716.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.608;DP=4189;ExcessHet=0.3672;FS=0.544;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=53.93;MQRankSum=-0.319;QD=12.87;ReadPosRankSum=-1.92;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:141,0:194:99:0|1:32521930_A_C:1799,2223,8144:32521930	18	0	1	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1660.37	9	chr6	32521967	.	G	*	1660.37	.	AC=4;AF=0.125;AN=32;BaseQRankSum=3.04;DP=3811;ExcessHet=0.0018;FS=12.393;InbreedingCoeff=0.4623;MLEAC=5;MLEAF=0.156;MQ=41.52;MQRankSum=-0.926;QD=3.71;ReadPosRankSum=-2.144;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:110,0:152:99:0|1:32521930_A_C:1432,1764,6382:32521930	13	1	2	3
chr6	32521968	32521968	C	T	exonic	HLA-DRB5	.	nonsynonymous SNV	HLA-DRB5:NM_002125:exon2:c.G307A:p.A103T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00352797210336	.	.	1.911e-05	0	0.0002	0	0	0	0	0	9.06e-05	14	154602	.	0.0001	0.0015	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	2.486e-05	0.0001	2.738e-05	6.242e-05	0	0.0001	9.992e-05	0.0002	1.18e-05	6.104e-05	0	2.429e-05	2.537e-05	0	0	.	.	0	0	0	0	0	0	0	2.537e-05	0	0	0.11	0.29158	T	0.176	0.29843	T	0.282	0.32132	B	0.054	0.25828	B	0.009617	0.01247	N	4.343080	1	0.08975	N	2.385	0.68708	M	8.31	0.00259	T	-1.07	0.27876	N	0.077	0.05162	-1.0063	0.28065	T	0.000	0.00075	T	10	0.062179536	0.07911	T	0.003528	0.08031	T	0.058	0.16647	0.138	0.04187	0.0297737177859	0.01360	0.08597424822063775	0.08531	0.0173346618961	0.01682	0.301356732845	0.10603	T	0.025595	0.19108	T	-0.296332	0.09010	T	-0.663437	0.08036	T	0.115118015084513	0.13946	T	0.0154984	0.00087	T	0.2328738	0.46082	0.2001708	0.43934	0.2328738	0.46082	0.2001708	0.43933	-5.761	0.44233	T	.	.	0.182	0.39562	B	.	.	-0.287144	0.02674	0.344	0.85282075613890684	0.15796	0.03952	0.09354	N	AEFDBHCIJ	0.304021	0.41183	N	-1.72416228014353	0.00759	0.03280149	-1.83957033863286	0.00640	0.02847258	0.999928221705437	0.46280	0.660085	0.49399	0	0.662677	0.63036	0	0.654281	0.52657	0	0.530356	0.10902	0	.	.	4.72	-3.95	0.03844	-2.528000	0.01021	.	.	-3.023000	0.00137	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.3298:0.0:0.2135	5.177	0.14465	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	22844.8	9	chr6	32521968	.	C	T	22844.8	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.27;DP=3900;ExcessHet=12.1646;FS=14.011;InbreedingCoeff=-0.5079;MLEAC=1;MLEAF=0.031;MQ=52.88;MQRankSum=-1.177;QD=9.74;ReadPosRankSum=-0.976;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:133,0:133:99:.:.:0,120,1800:.	15	0	1	3
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:133,0:133:99:.:.:0,120,1800:.	5	0	11	3
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	57856.4	11	chr6	32521972	.	G	*	57856.4	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.71;DP=3814;ExcessHet=0.0858;FS=5.068;InbreedingCoeff=0.2648;MLEAC=2;MLEAF=0.063;MQ=52.1;MQRankSum=-6.836;QD=22.11;ReadPosRankSum=-1.14;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:133:99:1|1:32521972_G_C:5783,5783,5783:32521972	14	0	2	3
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32786.2	10	chr6	32521977	.	TG	*	32786.2	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.51;DP=3685;ExcessHet=1.4183;FS=10.834;InbreedingCoeff=0.0148;MLEAC=2;MLEAF=0.056;MQ=51.82;MQRankSum=-5.073;QD=12.93;ReadPosRankSum=-1.121;SOR=0.95	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,60:125:99:.:.:4228,1596,1371:.	16	0	2	1
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,87:128:99:0|1:32521930_A_C:5306,1685,1460:32521930	5	0	11	3
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:125:99:0|1:32521981_T_TGC:5180,3675,3584:32521981	11	1	4	3
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:226,0:226:99:.:.:0,120,1800:.	12	0	7	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:247:99:.:.:10372,10364,10361:.	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:235,0:235:99:.:.:0,120,1800:.	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:235,0:235:99:.:.:0,120,1800:.	12	0	7	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	16776.1	118	chr6	32530183	.	CTT	*	16776.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=1987;ExcessHet=7.7183;FS=6.683;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=54.14;MQRankSum=-8.782;QD=9.02;ReadPosRankSum=-2.13;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:162,0:179:99:0|1:32530180_C_CAG:115,603,7405:32530180	17	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:176:72:0|1:32530184_T_*:7441,6754,6757:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:175:75:0|1:32530184_T_*:7325,6703,6715:32530184	2	5	11	1
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	1326.15	152	chr6	32580272	.	T	C	1326.15	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.61;DP=2847;ExcessHet=0;FS=0;InbreedingCoeff=0.4412;MLEAC=2;MLEAF=0.067;MQ=39.59;MQRankSum=1.05;QD=29.62;ReadPosRankSum=0.616;SOR=2.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,31:32:51:1|1:32580272_T_C:1350,51,0:32580272	14	1	0	4
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	8002.54	429	chr6	32581836	.	G	A	8002.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.25;DP=7428;ExcessHet=0.3672;FS=0.727;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.22;MQRankSum=-8.749;QD=4.85;ReadPosRankSum=4.98;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:684,135:819:99:.:.:3605,0,28315:.	17	0	2	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	12357.7	355	chr6	32584158	.	G	T	12357.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.809;DP=3470;ExcessHet=0.7564;FS=6.487;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=53.18;MQRankSum=7.66;QD=11.69;ReadPosRankSum=-0.133;SOR=1.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,132:360:99:0|1:32584158_G_T:4856,0,9176:32584158	16	0	3	0
chr6	32584159	32584159	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A320T:p.Y107F	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00156880872508	.	.	2.882e-05	0	0	0	0	5.168e-05	0	0	.	.	.	rs17879620	8.159e-07	8.338e-06	1.635e-06	0	1.075e-06	0	0	.	.	0	0	0	0	0	0	1.075e-06	0	0	8.192e-06	1.363e-05	0	1.699e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.1	0.30515	T	0.665	0.06406	T	0.001	0.07471	B	0.004	0.10090	B	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.31	0.32791	N	0.069	0.04188	-0.9609	0.39012	T	0.000	0.00075	T	10	0.08406469	0.14051	T	0.001569	0.02497	T	0.146	0.38789	.	.	0.141422826196	0.13715	0.14657268009090976	0.14579	0.665335666029	0.59136	.	.	.	0.015807	0.13185	T	-0.216582	0.18463	T	-0.548881	0.17432	T	0.139853916937205	0.16262	T	0.0555944	0.00401	T	0.29195747	0.52174	0.137562	0.32877	0.29195747	0.52174	0.137562	0.32876	-3.39	0.14922	T	.	.	0.096	0.15251	B	.	.	-2.347648	0.00046	0.001	0.65931025823746126	0.07913	0.00346	0.01789	N	ALL	0.113848	0.22447	N	-1.49287139486699	0.01900	0.08336921	-1.65846557971035	0.01332	0.06014232	0.999999990042277	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-6.97	0.01459	-0.933000	0.04067	.	.	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7845:0.0:0.0954:0.1201	10.384	0.43310	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	436.33	355	chr6	32584159	.	T	A	436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.4;DP=3447;ExcessHet=0;FS=17.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.89;MQRankSum=-2.806;QD=1.72;ReadPosRankSum=-4.837;SOR=2.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:354,0:354:99:.:.:0,120,1800:.	18	0	1	0
chr6	32584160	32584160	A	C	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T319G:p.Y107D	.	19	1485	18	0	0	18	0.0060241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0015101555701	.	.	2.877e-05	0	0	0	0	5.155e-05	0	0	.	.	.	rs17884043	0	1.251e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.201e-06	1.364e-05	0	1.702e-05	1.716e-05	0	0	.	.	0	0	0	0	0	0	0	1.716e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.70673	D	0.933	0.66815	D	0.019402	0.01510	N	2.614030	1	0.08975	N	.	.	.	7.84	0.00333	T	-5.53	0.86073	D	0.416	0.45615	-0.9779	0.35481	T	0.002	0.00526	T	10	0.40084913	0.55556	T	0.00151	0.02343	T	0.132	0.35948	.	.	0.552367828057	0.54894	0.6090491175066671	0.60836	2.30488031714	0.96506	.	.	.	0.016375	0.13546	T	-0.11443	0.34038	T	-0.402147	0.33136	T	0.985079526901245	0.76178	D	0.0585941	0.00423	T	0.5864999	0.71962	0.74983215	0.85213	0.5864999	0.71963	0.74983215	0.85214	-7.351	0.56558	T	.	.	0.452	0.62301	A	.	.	1.181034	0.15714	12.05	0.96272771664347634	0.29254	0.02291	0.06595	N	ALL	0.194799	0.32186	N	-0.359321827760937	0.26931	1.473667	-0.767686247680322	0.15289	0.8033058	0.999984616475046	0.51787	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-5.14	0.02656	-1.694000	0.02016	.	.	-0.543000	0.04927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2061:0.6597:0.0:0.1342	8.996	0.35216	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	430.33	355	chr6	32584160	.	A	C	430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=3449;ExcessHet=0;FS=17.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.93;MQRankSum=-2.837;QD=1.68;ReadPosRankSum=-4.804;SOR=2.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:354,0:354:99:.:.:0,120,1800:.	18	0	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,0:407:99:.:.:12574,12875,17013:.	8	0	8	3
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	492.09	386	chr6	32584174	.	GCC	G	492.09	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.15;DP=3959;ExcessHet=0;FS=10.148;InbreedingCoeff=0.3968;MLEAC=1;MLEAF=0.029;MQ=49.48;MQRankSum=-0.264;QD=2.09;ReadPosRankSum=-1.203;SOR=1.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:395,0:395:99:.:.:0,120,1800:.	16	0	1	2
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	26443.9	403	chr6	32584176	.	CCG	*	26443.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.77;DP=4234;ExcessHet=4.2649;FS=1.308;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=52.64;MQRankSum=-2.183;QD=8.97;ReadPosRankSum=1.01;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:278,0:441:99:0|1:32584151_G_A:5992,6828,18266:32584151	17	0	2	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,163:441:99:0|1:32584151_G_A:5992,0,10947:32584151	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,163:441:99:0|1:32584151_G_A:5992,0,10947:32584151	3	2	14	0
chr6	32584179	32584179	-	TT	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.299_300insAA:p.R101Sfs*29	.	348	1167	5	0	2	7	0.00213767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0004	0	0	0.0003	0	0	7.68e-05	2	26028	rs746231220	0.0018	0.0036	0.0018	0.0018	0.0070	0.0017	0.0017	0.0062	0.0059	0.0070	0.0039	0.0017	0	0.0005	0.0051	0.0018	0.0021	0.0007	0.0006	0.0037	0.0007	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0004	0	0	0.0003	0	0.0006	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	637.29	391	chr6	32584179	.	C	CTT	637.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=4149;ExcessHet=0;FS=17.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.98;MQRankSum=1.25;QD=4.09;ReadPosRankSum=-2.93;SOR=2.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:432,0:432:99:.:.:0,120,1800:.	18	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	16238.5	406	chr6	32584184	.	G	*	16238.5	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.23;DP=4565;ExcessHet=1.7862;FS=4.279;InbreedingCoeff=-0.0915;MLEAC=4;MLEAF=0.111;MQ=51.6;MQRankSum=-0.956;QD=7.63;ReadPosRankSum=-2.774;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:453,0:453:99:.:.:0,120,1800:.	15	1	2	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	16445.4	406	chr6	32584185	.	C	*	16445.4	.	AC=3;AF=0.088;AN=34;BaseQRankSum=2.49;DP=4581;ExcessHet=1.0583;FS=4.335;InbreedingCoeff=-0.0523;MLEAC=3;MLEAF=0.088;MQ=51.02;MQRankSum=-1.632;QD=8.83;ReadPosRankSum=-2.806;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:453,0:453:99:.:.:0,120,1800:.	15	1	1	2
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.05263	7552.83	577	chr6	32584280	.	C	G	7552.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.39;DP=8338;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.6;MQRankSum=2.42;QD=7.17;ReadPosRankSum=-0.695;SOR=0.719	GT:AD:DP:GQ:PL	0/0:340,0:340:99:0,120,1800	17	0	2	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3227.01	536	chr6	32584318	.	C	*	3227.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.95;DP=7153;ExcessHet=1.3;FS=1.244;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=54.18;MQRankSum=-3.443;QD=1.74;ReadPosRankSum=0.027;SOR=0.792	GT:AD:DP:GQ:PL	0/1:109,115:264:99:4501,0,4231	15	0	4	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	182826.0	404	chr6	32584353	.	C	*	182826.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=6.09;DP=6711;ExcessHet=0.2833;FS=3.963;InbreedingCoeff=0.0877;MLEAC=1;MLEAF=0.028;MQ=54.34;MQRankSum=-14.02;QD=30.95;ReadPosRankSum=1.01;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:96:99:1|1:32584353_C_A:4275,4275,4276:32584353	17	0	1	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	171572.0	397	chr6	32584354	.	C	*	171572.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.64;DP=6646;ExcessHet=2.8292;FS=5.961;InbreedingCoeff=-0.2063;MLEAC=1;MLEAF=0.028;MQ=54.31;MQRankSum=-12.22;QD=29.22;ReadPosRankSum=0.616;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:95:99:.:.:2279,2391,3895:.	17	0	1	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:93:99:1|1:32584353_C_A:4185,4185,4185:32584353	3	0	15	1
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.02632	4281.33	281	chr6	32589652	.	C	T	4281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=3374;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.05;MQRankSum=12.64;QD=24.89;ReadPosRankSum=2.62;SOR=0.896	GT:AD:DP:GQ:PL	0/0:311,0:311:99:0,120,1800	18	0	1	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1316	7491.37	357	chr6	32589684	.	A	G	7491.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=3888;ExcessHet=1.3;FS=0.686;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=46.8;MQRankSum=0.896;QD=4.94;ReadPosRankSum=1.18;SOR=0.619	GT:AD:DP:GQ:PL	0/1:317,84:401:99:2553,0,13017	14	0	5	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:69:99:1|1:32641430_C_T:3105,3105,3105:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:72:99:1|1:32641430_C_T:3240,3240,3240:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:81:99:1|1:32641430_C_T:3634,3634,3634:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:80:99:1|1:32641430_C_T:3589,3589,3589:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:138:99:1|1:32641476_G_A:6203,6203,6203:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:170:99:.:.:5330,5330,5330:.	4	4	11	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	18488.6	155	chr6	32641522	.	A	G	18488.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=5;MLEAF=0.132;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,170:170:99:.:.:5330,510,0:.	15	1	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:270:99:1|1:32664910_A_G:12150,12150,12150:32664910	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	12	0	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	62620.1	118	chr6	32666525	.	A	*	62620.1	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.825;DP=1761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=30.4;ReadPosRankSum=-0.601;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:32666522_A_ACC:4455,298,0:32666522	15	1	3	0
chr6	32745244	32745244	G	C	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon2:c.G168C:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0113176437646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.989	0.62824	D	0.957	0.69900	D	0.000155	0.49130	U	0.132552	0.999538	0.21028	N	3.885	0.96017	H	4.92	0.01404	T	-2.71	0.57762	D	0.629	0.64308	-1.0476	0.15073	T	0.012	0.04795	T	10	0.7818792	0.77922	D	0.011318	0.28825	T	0.156	0.40720	0.665	0.80300	0.319114376414	0.31517	0.25841224985294603	0.25755	1.17843841933	0.79943	0.536704182625	0.43980	T	0.009404	0.08568	T	-0.0890155	0.38240	T	-0.365641	0.37399	T	0.996204316616058	0.88872	D	.	.	.	0.086159885	0.20015	0.16626668	0.38420	0.086159885	0.20015	0.16626668	0.38420	-8.379	0.63625	D	.	.	0.586	0.68293	P	.	.	2.699106	0.35250	19.85	0.99717489428128669	0.81773	0.63791	0.32200	D	AEFBI	0.108430	0.21571	N	0.0160204800996947	0.42583	2.568538	-0.252715069046029	0.29678	1.664661	1.54554768306338E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.2	1.35	0.21078	1.012000	0.29527	.	.	0.320000	0.19365	0.865000	0.30702	0.000000	0.08366	0.114000	0.18915	0.3001:0.0:0.6999:0.0	4.843	0.12864	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	109.33	226	chr6	32745244	.	G	C	109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.809;DP=1964;ExcessHet=0;FS=149.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=3.13;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,117,1800:.	18	0	1	0
chr6	32745247	32745247	G	C	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon2:c.G171C:p.E57D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00307650922884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.026	0.55759	D	0.206	0.29860	B	0.151	0.34210	B	0.181230	0.03183	U	1.832950	0.999994	0.08975	N	3.135	0.88152	M	5.75	0.00703	T	-0.89	0.24026	N	0.182	0.19728	-0.9353	0.43349	T	0.002	0.00738	T	10	0.14395636	0.27326	T	0.003077	0.06666	T	0.051	0.14325	0.241	0.17371	0.176091768786	0.17195	0.3220455009851385	0.32117	0.460356281255	0.45595	0.380718648434	0.22358	T	0.001988	0.01394	T	-0.233951	0.16130	T	-0.573831	0.15099	T	0.146121993660927	0.16790	T	.	.	.	0.068053745	0.14793	0.13088901	0.31441	0.068053745	0.14792	0.13088901	0.31441	-9.824	0.72851	D	.	.	0.492	0.64229	A	.	.	1.310143	0.17132	12.98	0.98901956756681497	0.48199	0.02900	0.07694	N	AEFBI	0.071540	0.14246	N	-0.704532500048362	0.15894	0.8050661	-0.894210072119807	0.12230	0.6279142	1.29626801969239E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.2	-0.863	0.10129	-0.554000	0.06097	.	.	0.320000	0.19365	0.001000	0.13787	0.000000	0.08366	0.103000	0.18424	0.3687:0.0:0.4054:0.2259	2.399	0.04129	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	124.33	226	chr6	32745247	.	G	C	124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.261;DP=1962;ExcessHet=0;FS=149.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=2.24;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,117,1800:.	18	0	1	0
chr6	32761662	32761662	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A362G:p.Q121R,HLA-DQB2:NM_001300790:exon2:c.A362G:p.Q121R	.	2	1473	47	0	0	47	0.0157033	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0059641038352	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs200476184	0	3.078e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033759	0.01776	N	19.986600	1	0.08975	N	.	.	.	6.27	0.00562	T	3.0	0.00141	N	0.023	0.00407	-0.9338	0.43575	T	0.000	0.00039	T	10	0.019150287	0.00424	T	0.005964	0.15549	T	0.034	0.08419	.	.	0.0401082797425	0.02173	0.40803926276161073	0.40719	0.537570943843	0.51054	.	.	.	0.003424	0.02829	T	-0.31191	0.07580	T	-0.685813	0.06634	T	0.0374444062687312	0.03234	T	.	.	.	.	.	.	.	.	.	.	.	-3.597	0.17813	T	.	.	0.054	0.00321	B	.;.;.	.;.;.	0.105766	0.05063	1.604	0.098461244159509104	0.00110	0.00274	0.01486	N	AEFBCI	0.033796	0.04074	N	-1.88135563927435	0.00375	0.01611246	-1.82622069783553	0.00679	0.03020014	0.00126707100553648	0.08390	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.43	-2.33	0.06340	-0.106000	0.10860	.	.	-0.385000	0.05372	0.006000	0.17386	0.000000	0.08366	0.052000	0.15357	0.1689:0.2945:0.0:0.5367	4.538	0.11444	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013064	0.000000	0.027692	0.000000	0.000000	0.027778	0.006410	0.012821	0.02632	51.33	68	chr6	32761662	.	T	C	51.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.238;DP=1078;ExcessHet=0;FS=3.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.93;MQRankSum=-8.152;QD=0.75;ReadPosRankSum=0.419;SOR=0.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,111,1373:.	18	0	1	0
chr6	32837966	32837966	G	A	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.C268T:p.P90S,TAP2:NM_018833:exon2:c.C268T:p.P90S	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.213669322541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200951454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.567e-06	0	1.347e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.215	0.19293	T	0.239	0.24477	T	0.087	0.24971	B	0.03	0.21741	B	0.045371	0.23544	N	0.364827	.	.	.	1.74	0.45129	L	-0.2	0.89627	T	-1.4	0.39887	N	0.155	0.18239	-0.6730	0.61693	T	0.323	0.69143	T	9	0.13019606	0.24776	T	0.213669	0.87418	D	0.131	0.35738	0.35	0.34760	0.363751660372	0.35992	0.3721309323516385	0.37127	0.554978574672	0.52213	0.591537237167	0.51710	T	0.087124	0.37873	T	-0.0106337	0.50178	T	-0.253051	0.49516	T	0.298539906740189	0.24943	T	0.741726	0.36078	T	0.054264218	0.10385	0.06263525	0.12284	0.054264218	0.10385	0.06263525	0.12284	-4.12	0.25584	T	.	.	0.074	0.05668	B	.;.;.;.	.;.;.;.	1.650778	0.21061	15.03	0.92978475434153485	0.22560	0.35260	0.25260	N	AEFDGBCI	0.069164	0.13678	N	-0.541750754050365	0.20743	1.095762	-0.530012078991585	0.21340	1.15393	0.999999987679203	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.79	3.91	0.44383	1.209000	0.31963	.	.	0.663000	0.56723	0.345000	0.25717	1.000000	0.68203	0.002000	0.04165	0.113:0.0:0.887:0.0	7.993	0.29411	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1045.33	34	chr6	32837966	.	G	A	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=733;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.103;SOR=1.182	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1020	18	0	1	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A,TAP2:NM_018833:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	3	1475	43	1	0	45	0.015025	.	.	.	363959	MHC_class_I_deficiency|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.020697	0.010101	0.033967	0.015957	0.050000	0.008772	0.006098	0.015152	0.05263	1567.83	34	chr6	32838190	.	A	G	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=688;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=1.01;SOR=0.69	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1020	17	0	2	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S,PSMB8:NM_148919:exon2:c.A220T:p.T74S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	0	1475	46	1	0	48	0.0160107	.	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Proteosome-associated_autoinflammatory_syndrome|not_specified|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019063	0.010101	0.031250	0.010638	0.050000	0.008621	0.006098	0.015152	0.05263	3964.83	41	chr6	32843017	.	T	A	3964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.26;DP=898;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.261;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	17	0	2	0
chr6	32848058	32848058	G	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon8:c.C1601T:p.T534M,TAP1:NM_001292022:exon8:c.C998T:p.T333M	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	565562	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.532	0.0530621999543	.	0.000199681	6.306e-05	0.0001	0	0.0002	0	1.936e-05	0.0013	0.0001	5.82e-05	9	154602	rs192572056	3.356e-05	3.42e-05	3.68e-05	3.029e-05	9.287e-05	2.569e-05	2.315e-05	4.584e-05	3.276e-05	2.99e-05	0	0	2.521e-05	0.0002	0	1.259e-05	0.0002	9.287e-05	7.876e-05	7.873e-05	8.992e-05	6.71e-05	0.0004	4.492e-05	3.509e-05	8.867e-05	5.28e-05	4.81e-05	0	0.0003	0	0	0.0002	0	1.47e-05	0.0005	0.0004	0.006	0.61437	D	0.038	0.51421	D	0.997	0.70673	D	0.857	0.61067	P	0.104519	0.19700	N	0.438185	1	0.81001	D	2.465	0.71551	M	-3.35	0.94022	D	-4.64	0.79316	D	0.418	0.45803	0.499	0.90528	D	0.745	0.91313	D	10	0.43269137	0.57594	T	0.053062	0.65320	D	0.532	0.80307	.	.	0.904166217823	0.90320	0.7058731781919805	0.70529	1.43442229967	0.85862	0.352427184582	0.18278	T	0.543751	0.84425	D	-0.0462833	0.45009	T	-0.0675907	0.65797	T	0.534226477146149	0.33890	D	0.963804	0.86607	D	0.078189805	0.17792	0.15872785	0.37054	0.078189805	0.17791	0.15872785	0.37053	-7.692	0.58952	D	.	.	0.076	0.37482	B	.;.	.;.	2.301993	0.29454	18.13	0.99863956959570466	0.94184	0.78077	0.38469	D	AEFDGBHCI	0.139427	0.26102	N	0.286300810678289	0.55452	3.709424	0.213807968550622	0.50613	3.251524	0.999999998033737	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.630245	0.45026	0	0.727631	0.95156	0	.	.	5.3	2.44	0.28875	0.712000	0.25450	.	.	-0.114000	0.14653	0.427000	0.26385	0.351000	0.24472	0.857000	0.40602	0.2582:0.0:0.7418:0.0	8.943	0.34903	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1058.33	34	chr6	32848058	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=738;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.18;SOR=1.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr6	32935635	32935635	T	C	exonic	HLA-DMB	.	nonsynonymous SNV	HLA-DMB:NM_002118:exon4:c.A640G:p.M214V	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0001	0.00259585	0.0020	0	0	0	0.0002	0.0001	0.0046	0.0133	0.0015782	244	154602	rs142046749	0.0008	0.0008	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0.0001	4.473e-05	0.0003	5.038e-05	7.641e-05	0.0023	6.926e-05	0.0012	0.0120	0.0004	0.0004	0.0002	0.0006	0.0096	0.0003	0.0003	0.0074	0.0066	2.409e-05	0	6.539e-05	0.0009	0.0002	0	0	0.0001	0.0009	0.0096	0.289	0.15047	T	0.298	0.20486	T	.	.	.	.	.	.	0.098998	0.02529	N	1.855370	1	0.08975	N	.	.	.	5.54	0.00885	T	-0.49	0.15578	N	0.113	0.10056	-0.9235	0.45070	T	0.001	0.00222	T	10	0.0046008825	0.00096	T	.	.	.	0.039	0.10176	.	.	0.117506650769	0.11410	0.5250331516998152	0.52427	0.375523553379	0.39009	0.233298301697	0.02221	T	.	.	.	-0.67879	0.00049	T	-0.737423	0.04000	T	0.00274916757372555	0.00029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00195	B	.	.	-0.867952	0.00980	0.039	0.83661462809152221	0.14849	0.01840	0.05702	N	AEFBHCI	0.091434	0.18521	N	-1.39866342964536	0.02651	0.1173677	-1.44118709945545	0.02851	0.1319119	0.999999976825877	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.81	-6.77	0.01565	-2.497000	0.01046	.	.	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1302:0.4874:0.133:0.2494	4.093	0.09452	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003268	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.003788	0.02632	563.33	36	chr6	32935635	.	T	C	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.572;DP=720;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.052;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0:121:64:.:.:0,64,2383:.	12	0	6	1
chr6	33076072	33076072	C	T	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon1:c.C31T:p.R11W	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00885487331115	.	.	3.937e-05	0	0	0	0	7.083e-05	0	0	3.88e-05	6	154602	rs777782877	2.671e-05	2.668e-05	2.589e-05	2.753e-05	0.0003	2e-05	1.756e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	3.148e-05	1.657e-05	0	1.969e-05	1.968e-05	0	4.028e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0	0.722	0.03903	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	0.999994	0.08975	N	-1.57	0.00452	N	0.72	0.50976	T	2.15	0.00343	N	0.088	0.06587	-0.9883	0.33027	T	0.013	0.05321	T	9	0.023168713	0.00598	T	0.008855	0.23342	T	0.039	0.10176	.	.	0.215109475489	0.21095	0.4219584735557442	0.42112	0.773432479962	0.64893	0.19451931119	0.00315	T	0.006876	0.06306	T	-0.452332	0.01094	T	-0.702247	0.05704	T	0.0257032100682358	0.01366	T	.	.	.	0.034673367	0.03937	0.030880004	0.01601	0.034673367	0.03936	0.030880004	0.01601	-6.284	0.48595	T	.	.	0.080	0.07841	B	.	.	0.081075	0.04871	1.460	0.59458549862981525	0.06229	0.00189	0.01098	N	AEFGBHCI	0.134963	0.25514	N	-1.80573606223112	0.00531	0.02287216	-1.82090556944097	0.00695	0.03092725	0.999995803204862	0.74766	0.554377	0.28877	0	0.52208	0.09955	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.24	-3.3	0.04692	-0.115000	0.10713	-1.686000	0.04916	-2.554000	0.00247	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.24:0.384:0.376	4.207	0.09952	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2490.33	34	chr6	33076072	.	C	T	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.958;DP=818;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.942;SOR=0.706	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,107,1509	18	0	1	0
chr6	33164337	33164337	C	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_080679:exon62:c.G4679A:p.R1560H,COL11A2:NM_080681:exon63:c.G4742A:p.R1581H,COL11A2:NM_080680:exon65:c.G5000A:p.R1667H	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1505	16	1	0	18	0.00594452	.	.	.	174497	not_provided|Fibrochondrogenesis_2|not_specified|Connective_tissue_disorder|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Autosomal_recessive_nonsyndromic_hearing_loss_53|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Stickler_Syndrome,_Dominant	MedGen:C3661900|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MedGen:CN239460	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.293	0.0860606376536	0.0009	0.00119808	0.0021	0.0001	0.0026	0.0001	0	0.0018	0.0037	0.0059	0.0018887	292	154602	rs146555195	0.0013	0.0013	0.0011	0.0015	0.0062	0.0012	0.0012	0.0057	0.0056	0.0002	0.0024	0.0014	2.519e-05	3.824e-05	0.0035	0.0009	0.0017	0.0062	0.0012	0.0012	0.0012	0.0011	0.0056	0.0010	0.0010	0.0039	0.0034	7.219e-05	0.0066	0.0022	0.0017	0.0002	0	0.0034	0.0013	0.0057	0.0056	0.028	0.65419	D	0.118	0.36365	T	.	.	.	.	.	.	0.010839	0.29768	N	0.255070	0.972785	0.38973	D	.	.	.	-0.8	0.73845	T	-1.83	0.44094	N	0.258	0.29197	-0.1799	0.78182	T	0.406	0.75614	T	10	0.014077336	0.00297	T	0.086061	0.74660	D	0.293	0.61272	.	.	0.720468078731	0.71800	0.62446606600903	0.62379	0.418499390529	0.42440	0.494466602802	0.38059	T	0.023601	0.21058	T	-0.338688	0.05480	T	-0.257082	0.49114	T	0.0113980037148032	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24054	B	.;.;.	.;.;.	3.181810	0.43193	21.7	0.99947872410568039	0.99923	0.31858	0.24442	N	AEFDBI	0.326399	0.42769	N	0.113721188559424	0.47102	2.940713	0.112502918502449	0.45187	2.786353	0.00922045377715666	0.11816	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	0.456000	0.21572	0.765000	0.21347	0.589000	0.31548	0.140000	0.23505	0.212000	0.23650	0.777000	0.36790	0.0:1.0:0.0:0.0	15.548	0.75861	830	0.39242	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005991	0.020202	0.002717	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	455.33	38	chr6	33164337	.	C	T	455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=669;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.063;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	18	0	1	0
chr6	33164916	33164916	C	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_080679:exon61:c.G4478A:p.R1493Q,COL11A2:NM_080681:exon62:c.G4541A:p.R1514Q,COL11A2:NM_080680:exon64:c.G4799A:p.R1600Q	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	174361	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_53|Autosomal_dominant_nonsyndromic_hearing_loss_13|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Fibrochondrogenesis_2|Connective_tissue_disorder|Stickler_Syndrome,_Dominant|not_specified	MedGen:C3661900|MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636|MONDO:MONDO:0011159,MedGen:C1866095,OMIM:601868,Orphanet:90635|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239460|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	.	7.7e-05	0.00539137	0.0054	0	0.0009	0.0590	0.0089	0.0008	0.0078	0.0036	0.0018823	291	154602	rs1799912	0.0012	0.0013	0.0012	0.0013	0.0354	0.0012	0.0012	0.0338	0.0332	0	0	0.0002	0.0354	0.0009	0	4.934e-05	0.0011	0.0028	0.0009	0.0009	0.0007	0.0010	0.0193	0.0007	0.0007	0.0163	0.0151	0	0	0	0	0.0193	0.0008	0	5.884e-05	0.0014	0.0029	0.038	0.43708	D	0.049	0.48336	D	.	.	.	.	.	.	0.002022	0.37411	N	0.170180	0.696477	0.36112	D	.	.	.	-0.71	0.72889	T	-1.5	0.36586	N	0.36	0.44187	-1.0142	0.25593	T	0.093	0.35309	T	10	0.01012671	0.00227	T	.	.	.	0.147	0.38986	.	.	0.676845839615	0.67409	0.5838689600139562	0.58315	0.388035893685	0.40068	0.609013080597	0.54176	T	0.028589	0.20678	T	-0.353613	0.04504	T	-0.263797	0.48445	T	0.0341593517328559	0.02665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25100	B	.;.;.	.;.;.	4.222413	0.63876	24.6	0.99932255858212293	0.99439	0.46949	0.27873	N	AEFDBHCI	0.251201	0.37111	N	-0.0614340650030826	0.39093	2.299926	0.0199457016097485	0.40641	2.428784	0.118967587378684	0.16835	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.73	2.87	0.32523	3.892000	0.55947	1.684000	0.28029	0.589000	0.31548	1.000000	0.71638	0.907000	0.28067	0.994000	0.71098	0.3635:0.5427:0.0:0.0939	5.409	0.15636	830	0.39242	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	779.33	38	chr6	33164916	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.698;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	18	0	1	0
chr6	33186589	33186589	G	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_001163771:exon5:c.C836A:p.P279H	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1505	17	0	0	17	0.00561612	.	.	.	174375	not_specified|not_provided|COL11A2-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00210176183154	0.0002	0.000998403	0.0009	9.63e-05	0.0003	0.0005	0.0003	0.0003	0	0.0047	0.0007956	123	154602	rs200989046	0.0005	0.0005	0.0004	0.0006	0.0039	0.0005	0.0005	0.0036	0.0035	2.987e-05	0.0002	0	0.0004	0.0001	0.0024	0.0003	0.0009	0.0039	0.0003	0.0003	0.0002	0.0003	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0044	0.0	0.91255	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	-1.1	0.28497	N	0.1	0.08227	-0.9548	0.40131	T	0.009	0.03140	T	9	0.0033665001	0.00059	T	0.002102	0.03882	T	0.024	0.04979	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.673149	0.00053	T	-0.740546	0.03868	T	0.010253746062921	0.00139	T	.	.	.	.	.	.	.	.	.	.	.	-4.807	0.34673	T	.	.	0.077	0.06433	B	.	.	1.263187	0.16614	12.65	0.94001232920272193	0.24095	0.02947	0.07774	N	AEFBI	0.097567	0.19676	N	-1.11829565748072	0.06317	0.2904894	-1.1517873579055	0.06736	0.3252367	0.888800312144104	0.25798	0.549168	0.22868	0	0.59043	0.45803	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.26	-2.39	0.06223	-0.423000	0.07102	0.515000	0.19114	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.2234:0.3279:0.28:0.1687	1.025	0.01430	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	983.33	34	chr6	33186589	.	G	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=722;ExcessHet=0;FS=1.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.161;SOR=0.882	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1349	18	0	1	0
chr6	33199368	33199368	A	G	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001270401:exon2:c.T284C:p.V95A,RXRB:NM_021976:exon2:c.T284C:p.V95A	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	.	0.0006	0.0139776	0.0058	0.0160	0	0.0125	0	0.0006	0	0.0333	0.0012419	192	154602	rs17847931	0.0020	0.0020	0.0019	0.0020	0.0377	0.0019	0.0019	0.0355	0.0346	0.0160	0.0057	0.0006	0.0140	8.416e-05	0.0046	0.0004	0.0049	0.0377	0.0062	0.0065	0.0057	0.0067	0.0349	0.0058	0.0057	0.0303	0.0286	0.0157	0	0.0027	0.0006	0.0101	0	0.0109	0.0006	0.0043	0.0349	0.995	0.02581	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.012091	0.01326	N	2.850110	1	0.08975	N	-0.205	0.04094	N	-2.94	0.91903	D	0.13	0.05604	N	0.059	0.03069	-0.6069	0.64532	T	0.256	0.62643	T	10	0.0019133389	0.00026	T	.	.	.	0.208	0.49714	.	.	0.20808081866	0.20439	0.06950472447010643	0.06888	0.546012608631	0.51609	0.575300216675	0.49424	T	0.270554	0.64283	T	-0.449196	0.01142	T	-0.401095	0.33256	T	0.000488318452380952	0.00004	T	.	.	.	0.026952919	0.01819	0.046170585	0.06377	0.026952919	0.01819	0.046170585	0.06377	-1.741	0.02339	T	.	.	0.075	0.05711	B	.;.	.;.	1.649483	0.21048	15.03	0.83597542414309567	0.14813	0.06152	0.12133	N	AEFDB	0.077354	0.15583	N	-1.11139888602517	0.06439	0.2964297	-1.06839319662492	0.08328	0.4089995	0.999960502074444	0.48965	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	4.88	-1.76	0.07574	0.436000	0.21244	3.301000	0.37383	0.672000	0.70159	0.000000	0.06391	0.378000	0.24602	0.869000	0.41347	0.3129:0.5247:0.1624:0.0	5.840	0.17882	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015385	0.000000	0.015957	0.007143	0.000000	0.025641	0.003846	0.026786	0.02632	588.33	37	chr6	33199368	.	A	G	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=699;ExcessHet=0;FS=6.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.261;SOR=1.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr6	33292239	33292239	G	A	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_001243738:exon17:c.C1951T:p.R651W,RGL2:NM_004761:exon18:c.C2197T:p.R733W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.106177590471	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775378178	7.525e-06	7.524e-06	8.167e-06	6.875e-06	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	3.311e-05	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.000564	0.43250	D	0.000000	1	0.81001	D	1.845	0.48678	L	0.5	0.55608	T	-3.45	0.67589	D	0.318	0.35832	-0.6001	0.64813	T	0.221	0.58485	T	10	0.41106665	0.56228	T	0.106178	0.78165	D	0.316	0.63799	0.572	0.69564	0.814079806744	0.81233	0.7548604797283074	0.75433	1.15701977148	0.79381	0.58854496479	0.51289	T	0.204543	0.56334	T	0.0238469	0.54901	T	-0.188036	0.55774	T	0.983265161514282	0.74996	D	.	.	.	0.54812384	0.69850	0.5283659	0.72750	0.54812384	0.69852	0.5283659	0.72750	-11.882	0.84271	D	.	.	0.198	0.42052	B	.	.	5.104491	0.85307	28.6	0.99914243303600048	0.98309	0.87080	0.46514	D	AEFDBCI	0.549627	0.56243	D	0.49329822136123	0.66696	4.983806	0.450146830355231	0.64725	4.73452	0.999991165822361	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.76	0.60189	1.740000	0.37852	5.291000	0.48208	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.8256:0.1744	11.889	0.51900	653	0.62661	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1418.33	33	chr6	33292239	.	G	A	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.26;DP=761;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.021;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr6	33297033	33297033	A	C	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_004761:exon3:c.T239G:p.L80W	.	.	.	.	.	.	.	.	0.0004	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00528493007512	0.0002	.	0.0002	0	8.706e-05	0	0	0.0003	0.0012	0	0.000194	30	154602	rs139385178	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0002	0.0026	0	0	0.0005	0.0002	0.0004	8.661e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	4.825e-05	0	0.0001	0.0020	0	0	0	0.0003	0	0	0.023	0.48186	D	0.12	0.35970	T	0.876	0.48154	P	0.221	0.37837	B	0.073006	0.02272	N	1.969860	1	0.81001	D	0.695	0.17993	N	2.77	0.11407	T	0.31	0.11008	N	0.357	0.39861	-0.9624	0.38723	T	0.010	0.03627	T	10	0.017626762	0.00378	T	0.005285	0.13494	T	0.086	0.25016	.	.	0.383921772103	0.37999	0.4012227797257212	0.40037	0.887839185907	0.70081	0.390135377645	0.23689	T	0.02842	0.20594	T	-0.418712	0.01743	T	-0.54574	0.17737	T	0.0297025066751787	0.01944	T	.	.	.	0.07154659	0.15849	0.080445506	0.18198	0.07154659	0.15848	0.080445506	0.18198	-7.168	0.55251	T	.	.	0.092	0.17146	B	.;.	.;.	2.186056	0.27867	17.61	0.92899741465048247	0.22454	0.67889	0.33597	D	AEFDBCI	0.397860	0.47376	N	-0.121747489663462	0.36446	2.106806	-0.120908559241993	0.34547	1.988538	0.999997217120777	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.44	0.488	0.16056	-0.207000	0.09388	0.464000	0.18647	0.743000	0.86499	0.546000	0.27314	0.002000	0.18203	0.999000	0.91618	0.6438:0.0:0.3562:0.0	6.461	0.21154	653	0.62661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2016.33	33	chr6	33297033	.	A	C	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=807;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.063;SOR=0.63	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1356	18	0	1	0
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1476	44	2	0	48	0.016	.	.	.	3886708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012527	0.005051	0.014946	0.021277	0.000000	0.017241	0.000000	0.011364	0.02632	1303.33	161	chr6	33303829	.	C	G	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=793;ExcessHet=0;FS=1.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.34;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	18	0	1	0
chr6	33313727	33313727	C	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_003190:exon2:c.G175T:p.D59Y,TAPBP:NM_172208:exon2:c.G175T:p.D59Y,TAPBP:NM_172209:exon2:c.G175T:p.D59Y	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1492	28	2	0	32	0.0106101	.	.	.	721987	MHC_class_I_deficiency|TAPBP-related_disorder|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.333	0.0623189055885	0.0055	0.00339457	0.0051	0.0018	0.0023	0	0.0015	0.0078	0.0035	0.0028	0.0047218	730	154602	rs45583737	0.0061	0.0061	0.0061	0.0061	0.0087	0.0060	0.0059	0.0068	0.0067	0.0009	0.0028	0.0116	0.0001	0.0024	0.0087	0.0069	0.0062	0.0029	0.0044	0.0044	0.0047	0.0041	0.0072	0.0041	0.0040	0.0067	0.0064	0.0011	0	0.0033	0.0115	0.0002	0.0015	0.0034	0.0072	0.0047	0.0033	0.006	0.78490	D	0.0	0.92824	D	0.933	0.52105	P	0.401	0.44513	B	0.000001	0.62929	D	0.055692	0.995579	0.42754	D	.	.	.	0.82	0.52187	T	-5.07	0.82896	D	0.481	0.74462	-0.6309	0.63532	T	0.222	0.58550	T	10	0.010598451	0.00235	T	0.062319	0.68616	D	0.333	0.65522	.	.	0.693519491251	0.69088	0.8715885188461977	0.87124	1.1666736912	0.79651	0.610623180866	0.54403	T	0.244543	0.62454	T	-0.216899	0.18419	T	-0.0797713	0.64920	T	0.0329161563857539	0.02457	T	0.927007	0.73102	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.68006	B	.;.;.;.;.	.;.;.;.;.	4.068686	0.60437	24.2	0.84312139471139891	0.15218	0.52732	0.29202	D	ALL	0.223166	0.34756	N	0.371666500209946	0.59891	4.172566	0.280577785354143	0.54406	3.605716	0.999999999999045	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	1.404000	0.34232	4.387000	0.43201	0.577000	0.29297	0.861000	0.30630	1.000000	0.68203	0.456000	0.28029	0.0:1.0:0.0:0.0	12.127	0.53225	628	0.65206	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009259	0.005051	0.006793	0.005319	0.000000	0.025862	0.015244	0.003788	0.02632	2827.33	39	chr6	33313727	.	C	A	2827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=764;ExcessHet=0;FS=2.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=-0.923;SOR=0.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr6	33315386	33315386	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1531T:p.R511W,ZBTB22:NM_005453:exon2:c.C1531T:p.R511W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0734317078374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.975	0.73362	D	0.009581	0.30291	N	0.000000	0.999992	0.58761	D	3.24	0.89678	M	2.08	0.20255	T	-4.7	0.79829	D	0.858	0.85979	-0.9326	0.43755	T	0.101	0.37468	T	10	0.8551097	0.84704	D	0.073432	0.71787	D	0.420	0.72930	0.583	0.70990	0.70680756224	0.70425	0.9352469572004236	0.93504	1.57551054884	0.88282	0.924082040787	0.98618	D	0.457373	0.79577	T	0.137782	0.68113	D	-0.0398618	0.67711	D	0.99809056520462	0.93215	D	0.978102	0.92255	D	0.24172634	0.47092	0.15533438	0.36416	0.24172634	0.47092	0.15533438	0.36415	-15.422	0.96763	D	.	.	0.981	0.91303	P	.;.	.;.	5.651039	0.92809	33	0.999046699838258	0.97576	0.86134	0.45358	D	AEFDBHCI	0.892282	0.82906	D	0.626600505434474	0.74862	6.205379	0.520934571405871	0.69400	5.355048	0.999999999998653	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.723	0.93126	0	.	.	4.22	3.33	0.37245	6.676000	0.74333	7.412000	0.58651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8109:0.1891	10.903	0.46272	620	0.66037	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	39	chr6	33315386	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.592;DP=807;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.2;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	0	1	0
chr6	33315710	33315710	T	C	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.A1207G:p.T403A,ZBTB22:NM_005453:exon2:c.A1207G:p.T403A	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00318948077297	0.0009	.	0.0002	0.0022	0	0	0	0	0	0	0.0001552	24	154602	rs138395717	5.41e-05	5.404e-05	6.677e-05	4.13e-05	0.0017	4.415e-05	4.086e-05	0.0014	0.0012	0.0017	2.239e-05	0	0	0	0.0007	1.8e-06	0.0002	3.485e-05	0.0004	0.0004	0.0003	0.0005	0.0014	0.0003	0.0003	0.0012	0.0010	0.0014	0	0	0	0	0	0	0	0.0005	0	0.152	0.24468	T	0.794	0.04142	T	0.0	0.02946	B	0.001	0.04355	B	0.065659	0.21866	N	0.235203	0.955082	0.37908	D	0.805	0.20218	L	3.38	0.05778	T	-0.35	0.12847	N	0.059	0.03069	-0.9335	0.43620	T	0.003	0.01026	T	10	0.0066327155	0.00150	T	0.003189	0.06996	T	0.030	0.07022	.	.	0.274366138417	0.27033	0.12685700678358403	0.12611	0.558678093694	0.52439	0.530081927776	0.43046	T	0.004044	0.03453	T	-0.664827	0.00059	T	-0.733612	0.04166	T	0.00950929712651575	0.00123	T	0.408059	0.10511	T	0.036880933	0.04622	0.06600689	0.13458	0.036880933	0.04622	0.06600689	0.13458	-2.554	0.06161	T	.	.	0.085	0.11124	B	.;.	.;.	0.899611	0.12735	9.254	0.95572106565661663	0.27265	0.06063	0.12034	N	AEFBCI	0.048388	0.08253	N	-0.65493772815864	0.17316	0.8900263	-0.50886949861053	0.21911	1.187623	0.999985118769923	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	2.92	0.32998	-0.090000	0.11129	0.821000	0.21853	-0.118000	0.14412	0.000000	0.06391	0.883000	0.27730	0.975000	0.56047	0.0:0.1324:0.2468:0.6208	3.292	0.06544	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1142.33	39	chr6	33315710	.	T	C	1142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=813;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.998;SOR=1.14	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	0	1	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L,ZBTB22:NM_005453:exon2:c.C1100T:p.P367L	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1348.33	39	chr6	33315817	.	G	A	1348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=831;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.965;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	0	1	0
chr6	33320438	33320438	A	G	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon3:c.T968C:p.L323P,DAXX:NM_001141969:exon4:c.T1193C:p.L398P,DAXX:NM_001141970:exon4:c.T1229C:p.L410P,DAXX:NM_001350:exon4:c.T1193C:p.L398P	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0170306294313	.	.	0.0002	0.0002	0	0	0	0	0	0.0012	0.0001423	22	154602	rs748061004	9.92e-05	9.919e-05	2.995e-05	0.0002	0.0016	8.579e-05	8.048e-05	0.0014	0.0013	0	0	0	0	0	0.0002	0	8.28e-05	0.0016	7.881e-05	7.874e-05	2.57e-05	0.0001	0.0025	4.495e-05	3.511e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.047	0.45393	D	0.273	0.22154	T	0.917	0.50750	P	0.666	0.52990	P	0.172257	0.17341	N	0.526348	0.999233	0.22281	N	2.015	0.55033	M	.	.	.	-0.7	0.23590	N	0.22	0.27077	-1.0688	0.09679	T	0.066	0.27330	T	9	0.022503704	0.00564	T	0.017031	0.38558	T	0.112	0.31546	0.568	0.69034	0.348910101417	0.34498	0.18455198128968106	0.18373	0.575530254115	0.53546	0.468195021152	0.34432	T	0.169661	0.51712	T	-0.343212	0.05169	T	-0.295856	0.45159	T	0.0452869766068372	0.04653	T	.	.	.	0.26742703	0.49815	0.24692124	0.50212	0.26742703	0.49814	0.24692124	0.50211	-3.238	0.16784	T	.	.	0.093	0.23848	B	.;.;.;.	.;.;.;.	2.943886	0.39146	20.9	0.98958304362728	0.49285	0.17608	0.19910	N	ALL	0.108402	0.21566	N	-0.102456968997665	0.37285	2.167064	-0.132144322526288	0.34103	1.957951	0.999999999997341	0.74766	0.730579	0.87903	0	0.581341	0.33841	0	0.696144	0.63334	0	0.648885	0.59868	0	.	.	4.56	2.08	0.26079	0.627000	0.24200	3.291000	0.37306	0.727000	0.85467	0.157000	0.23755	0.988000	0.31051	0.741000	0.35472	0.7359:0.0:0.0951:0.1689	4.655	0.11996	583	0.69484	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.000000	0.05263	2596.83	35	chr6	33320438	.	A	G	2596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.374;DP=857;ExcessHet=0.119;FS=3.112;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.24;SOR=0.516	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1364	17	0	2	0
chr6	33398031	33398031	G	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon2:c.G15T:p.R5S	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0408002539923	0.0033	0.00239617	0.0022	0.0009	0.0007	0.0002	0.0011	0.0031	0.0022	0.0019	0.0023415	362	154602	rs142060160	0.0034	0.0034	0.0034	0.0033	0.0039	0.0033	0.0032	0.0038	0.0038	0.0004	0.0005	0.0001	0.0001	0.0010	0.0014	0.0039	0.0046	0.0019	0.0022	0.0022	0.0025	0.0018	0.0038	0.0020	0.0019	0.0034	0.0033	0.0007	0	0.0011	0	0	0.0009	0	0.0038	0.0014	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.816	0.45573	P	0.245	0.38823	B	0.005441	0.32788	N	0.323357	0.998133	0.22332	N	2.175	0.60977	M	-0.85	0.74371	T	0.08	0.40850	N	0.442	0.48042	-0.9955	0.31164	T	0.112	0.40168	T	10	0.004797846	0.00101	T	0.041	0.59575	D	0.169	0.43123	0.146	0.04941	0.745510952687	0.74321	0.2784644046163482	0.27759	0.827371786703	0.67469	0.415921032429	0.27274	T	0.015455	0.12960	T	-0.311614	0.07607	T	-0.218193	0.52911	T	0.0491252533901915	0.05345	T	0.731327	0.34690	T	0.08172484	0.18793	0.053742945	0.09111	0.08172484	0.18793	0.053742945	0.09111	-3.675	0.18950	T	.	.	0.155	0.76596	B	.;.	.;.	1.515352	0.19464	14.28	0.99240047914648011	0.56501	0.31873	0.24446	N	AEFDBI	0.139556	0.26119	N	-0.344683889422701	0.27467	1.507256	-0.394668599427259	0.25154	1.381696	0.913683791235554	0.26431	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.78	2.93	0.33092	0.560000	0.23204	2.239000	0.31595	-0.113000	0.14837	0.645000	0.28128	0.999000	0.35428	0.003000	0.05239	0.2325:0.0:0.7675:0.0	6.399	0.20833	375	0.84013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	655.33	35	chr6	33398031	.	G	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.994;DP=671;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.283;SOR=0.93	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr6	33403774	33403774	G	T	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G401T:p.R134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0938847124795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-0.88	0.74689	T	-3.83	0.93621	D	0.491	0.52475	-0.1879	0.77981	T	0.414	0.76129	T	10	0.66775185	0.70528	D	0.093885	0.76154	D	0.524	0.79825	0.295	0.25881	0.875187643895	0.87397	0.7327155133154474	0.73216	1.32788030423	0.83588	0.497574865818	0.38490	T	0.092884	0.39097	T	0.213775	0.75186	D	0.069297	0.74862	D	0.989866852760315	0.80083	D	0.874613	0.58533	D	0.60970396	0.73212	0.36977506	0.62241	0.60970396	0.73213	0.36977506	0.62240	-6.213	0.48028	T	.	.	0.592	0.76878	P	.;.	.;.	4.984042	0.82574	27.8	0.99857873739321157	0.93639	0.94054	0.59974	D	AEFGBCI	0.773814	0.70771	D	0.644919707048191	0.76039	6.413767	0.651927349884133	0.78754	6.940415	0.999999969568661	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	6.161000	0.71682	11.486000	0.92909	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	16.578	0.84557	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	35	chr6	33403774	.	G	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=808;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.06;SOR=0.761	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2255.33	35	chr6	33405054	.	T	C	2255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=804;ExcessHet=0;FS=5.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.95;SOR=1.007	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	18	0	1	0
chr6	33406837	33406837	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon10:c.G1939A:p.V647I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0116608512489	0.0015	0.000399361	0.0009	0.0022	0	0	0.0044	0.0008	0.0022	0	0.0007956	123	154602	rs145707165	0.0008	0.0008	0.0009	0.0008	0.0018	0.0008	0.0008	0.0014	0.0013	0.0018	4.472e-05	0	0	0.0038	0.0007	0.0008	0.0007	3.478e-05	0.0011	0.0011	0.0008	0.0014	0.0014	0.0010	0.0009	0.0011	0.0010	0.0014	0	6.54e-05	0	0	0.0053	0	0.0008	0.0005	0	0.153	0.24372	T	0.113	0.36901	T	0.072	0.23997	B	0.022	0.19653	B	0.001298	0.39521	N	0.246428	0.809731	0.29015	N	0.145	0.08828	N	-0.89	0.74793	T	0.51	0.02898	N	0.083	0.05929	-1.0768	0.07983	T	0.074	0.30023	T	10	0.006282568	0.00142	T	0.011661	0.29506	T	0.066	0.19193	.	.	0.652782900136	0.64989	0.5415477893592484	0.54079	0.317553365187	0.33995	0.334346950054	0.15589	T	0.06723	0.33148	T	-0.529028	0.00389	T	-0.538546	0.18440	T	0.0248936144753424	0.01258	T	.	.	.	0.052440237	0.09781	0.04873134	0.07301	0.052440237	0.09781	0.04873134	0.07300	-4.683	0.33197	T	.	.	0.065	0.01986	B	.	.	1.318817	0.17227	13.04	0.9778578039393937	0.35963	0.67775	0.33555	D	AEFDBCI	0.104988	0.20991	N	-0.682509894182362	0.16520	0.8424238	-0.561936772333299	0.20490	1.104131	0.99966098190137	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.09	-1.05	0.09523	0.510000	0.22430	0.630000	0.20219	-0.106000	0.15538	0.964000	0.33853	0.000000	0.08366	0.963000	0.52385	0.2854:0.0:0.2625:0.4521	3.903	0.08670	365	0.84644	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1410.33	33	chr6	33406837	.	G	A	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=752;ExcessHet=0;FS=3.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.731;SOR=1.037	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1278	18	0	1	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E	.	411	1081	28	2	0	32	0.0145852	.	.	.	699552	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	5384.83	247	chr6	33670361	.	C	A	5384.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=1060;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.52;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1314	17	0	2	0
chr6	33670774	33670774	G	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon20:c.G2545A:p.V849M	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.013839570421	0.0002	0.000399361	0.0001	0.0003	0.0002	0	0	6.002e-05	0	0.0003	0.0001035	16	154602	rs200072171	5.746e-05	5.951e-05	5.173e-05	6.326e-05	0.0004	4.743e-05	4.366e-05	0.0002	0.0002	0.0004	0.0001	0	0	0	0.0003	4.496e-05	3.312e-05	0.0001	0.0001	0.0001	5.139e-05	0.0002	0.0003	7.572e-05	6.277e-05	0.0002	0.0001	0.0003	0	6.532e-05	0	0	0	0.0034	4.41e-05	0	0	0.319	0.13610	T	0.267	0.22561	T	0.028	0.19712	B	0.015	0.17295	B	0.001947	0.37596	N	0.230399	0.526981	0.31522	N	-0.895	0.01383	N	-2.88	0.91533	D	0.42	0.03352	N	0.489	0.56919	-0.6718	0.61747	T	0.325	0.69376	T	10	0.06258282	0.08023	T	0.01384	0.33543	T	0.253	0.56294	.	.	0.832394750067	0.83080	0.40643106758595116	0.40559	0.41441442246	0.42123	0.653662264347	0.60506	T	0.26345	0.63513	T	-0.173132	0.24763	T	-0.170313	0.57413	T	0.0257119029815131	0.01367	T	0.874113	0.58433	D	0.10194139	0.24085	0.05632283	0.10042	0.10194139	0.24084	0.05632283	0.10041	-3.826	0.21193	T	.	.	0.127	0.27403	B	.;.	.;.	3.918868	0.57202	23.8	0.97696505905201059	0.35406	0.82982	0.42141	D	AEFGBI	0.118269	0.23134	N	-0.35016891348764	0.27265	1.494564	-0.134903765191909	0.33994	1.950555	0.999921747174809	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	1.573000	0.36081	5.162000	0.47795	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8349:0.1651	12.680	0.56284	511	0.75131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1956.33	34	chr6	33670774	.	G	A	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=877;ExcessHet=0;FS=3.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.25;SOR=0.813	GT:AD:DP:GQ:PL	0/1:87,85:172:99:1970,0,1926	18	0	1	0
chr6	33689248	33689248	C	G	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon50:c.C6705G:p.D2235E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0388001866378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.284	0.32165	B	0.315	0.41566	B	0.020761	0.26970	N	0.409832	0.660212	0.33045	D	1.79	0.46772	L	-2.94	0.91851	D	-0.13	0.08971	N	0.321	0.36779	-0.5299	0.67545	T	0.439	0.77796	T	10	0.16395119	0.30685	T	0.039	0.58435	D	0.206	0.49396	0.295	0.25881	0.784046768011	0.78204	0.5879224915502999	0.58722	0.77231500373	0.64831	0.420532405376	0.27909	T	0.254985	0.62572	T	-0.0955059	0.37167	T	-0.374964	0.36310	T	0.253946721553802	0.23049	T	0.691131	0.30052	T	0.026004007	0.01604	0.035612036	0.02847	0.026004007	0.01604	0.035612036	0.02846	-3.192	0.12383	T	.	.	0.149	0.33435	B	.;.	.;.	2.499035	0.32255	18.99	0.56063136389726453	0.05473	0.92282	0.55354	D	AEFBI	0.317708	0.42162	N	-0.53890461324152	0.20833	1.101212	-0.387920611399438	0.25355	1.393923	0.997972987482925	0.36262	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.55	0.39770	0.282000	0.18587	1.116000	0.24201	-0.197000	0.09056	0.978000	0.35038	1.000000	0.68203	0.961000	0.51904	0.0:0.7068:0.0:0.2932	8.277	0.31041	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	68.97	35	chr6	33689248	.	C	G	68.97	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.413;DP=1738;ExcessHet=0.119;FS=154.562;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.75;SOR=10.048	GT:AD:DP:GQ:PL	0/1:130,31:166:75:75,0,2644	17	0	2	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D,PACSIN1:NM_020804:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	96.17	69	chr6	34528877	.	G	C	96.17	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-1.296;DP=1206;ExcessHet=0.119;FS=95.299;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.622;SOR=7.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:45:.:.:0,45,1236:.	12	0	2	5
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,13:70:30:.:.:30,0,1819:.	3	0	11	5
chr6	34859063	34859063	C	T	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon14:c.C2707T:p.L903F	.	427	1093	2	0	0	2	0.000914077	.	.	.	2713153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0111424517572	.	.	1.667e-05	0	0	0	0	0	0.0011	6.066e-05	1.29e-05	2	154602	rs764113068	4.241e-05	4.241e-05	3.267e-05	5.225e-05	0.0003	3.376e-05	3.065e-05	7.124e-05	5.482e-05	0	0	0	0	0	0.0003	4.047e-05	6.623e-05	0.0001	6.565e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.172	0.22660	T	0.168	0.30631	T	0.997	0.70673	D	0.938	0.67350	D	0.000760	0.42006	D	0.209883	0.999885	0.50402	D	2.39	0.68882	M	2.9	0.10101	T	-1.56	0.37759	N	0.276	0.31253	-1.0592	0.11956	T	0.033	0.14117	T	10	0.1976195	0.35700	T	0.011142	0.28456	T	0.190	0.46781	.	.	0.500363902356	0.49674	0.30845987972984423	0.30758	0.332810428697	0.35327	0.519379258156	0.41539	T	0.093349	0.39192	T	-0.264508	0.12377	T	-0.487273	0.23677	T	0.288464844026131	0.24525	T	0.89741	0.64114	D	0.08091376	0.18565	0.08584753	0.19850	0.08091376	0.18565	0.08584753	0.19850	-4.585	0.31982	T	.	.	0.170	0.37293	B	.;.	.;.	3.340778	0.46033	22.2	0.9984550105552944	0.92576	0.87156	0.46611	D	AEFBCI	0.225118	0.34925	N	0.465536225764278	0.65090	4.778935	0.507108163026559	0.68467	5.224087	0.999923083327421	0.46280	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.674467	0.66132	0	.	.	5.7	5.7	0.88690	2.661000	0.46423	2.735000	0.34419	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.834	0.96643	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2156.33	43	chr6	34859063	.	C	T	2156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=1.24;SOR=0.676	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr6	35233280	35233280	A	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon6:c.A688G:p.T230A,SCUBE3:NM_152753:exon6:c.A691G:p.T231A	.	431	1027	60	4	0	68	0.0320452	.	.	.	722010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	.	0.0068	0.0091853	0.0090	0.0013	0.0065	0.0095	0.0033	0.0101	0.0113	0.0132	0.0085833	1327	154602	rs79753406	0.0092	0.0092	0.0090	0.0094	0.0347	0.0091	0.0090	0.0331	0.0325	0.0017	0.0074	0.0135	0.0347	0.0039	0.0294	0.0083	0.0094	0.0132	0.0072	0.0072	0.0069	0.0075	0.0143	0.0069	0.0067	0.0116	0.0107	0.0018	0.0011	0.0104	0.0104	0.0143	0.0034	0.0240	0.0092	0.0143	0.0105	0.373	0.11442	T	0.43	0.13713	T	0.083	0.24734	B	0.05	0.25278	B	0.000103	0.50451	D	0.133022	0.911284	0.27501	N	0.21	0.09513	N	-3.67	0.95247	D	-0.97	0.25770	N	0.23	0.25867	-0.6791	0.61414	T	0.307	0.67768	T	10	0.010085374	0.00226	T	.	.	.	0.166	0.42578	.	.	0.805243615292	0.80342	0.4329722714988088	0.43214	0.771633514388	0.64795	0.544402062893	0.45068	T	0.063282	0.32135	T	-0.369348	0.03627	T	-0.292288	0.45535	T	0.0198556633531013	0.00687	T	0.50295	0.15803	T	0.09223358	0.21633	0.088297546	0.20580	0.09223358	0.21633	0.088297546	0.20580	-3.328	0.14100	T	.	.	0.055	0.00412	B	.	.	2.792315	0.36707	20.3	0.94186847558303533	0.24411	0.84137	0.43221	D	AEFBI	0.410819	0.48154	N	-0.500490880925575	0.22065	1.175561	-0.282590628222039	0.28670	1.600411	0.983709014879107	0.30601	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.627000	0.36661	4.166000	0.42242	0.754000	0.88378	0.963000	0.33788	0.997000	0.33255	0.981000	0.58702	0.6772:0.0:0.0:0.3228	8.145	0.30267	248	0.90287	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022681	0.035714	0.024457	0.026316	0.000000	0.017241	0.012195	0.030303	0.05263	3998.83	35	chr6	35233280	.	A	G	3998.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.647;DP=1012;ExcessHet=0.119;FS=0.373;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.192;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1426	17	0	2	0
chr6	35241648	35241648	G	A	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon11:c.G1298A:p.R433Q,SCUBE3:NM_152753:exon11:c.G1301A:p.R434Q	.	.	.	.	.	.	.	.	.	.	.	2822978	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.316	0.0528404780671	0.0018	0.000599042	0.0014	0.0002	0.0004	0	0.0011	0.0021	0	0.0006	0.0014942	231	154602	rs141661914	0.0022	0.0023	0.0022	0.0023	0.0027	0.0022	0.0022	0.0027	0.0026	0.0004	0.0007	0.0003	0	0.0009	0.0019	0.0027	0.0016	0.0004	0.0014	0.0014	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0020	0.0004	0	0.0008	0	0	0.0009	0.0068	0.0025	0.0005	0	0.539	0.06824	T	0.315	0.19421	T	0.913	0.50474	P	0.158	0.34617	B	0.000000	0.84330	D	0.052897	0.999709	0.48408	D	1.15	0.29295	L	-1.61	0.82254	D	-0.35	0.12847	N	0.203	0.22486	-0.6217	0.63918	T	0.243	0.61154	T	10	0.012103975	0.00261	T	0.05284	0.65233	D	0.316	0.63799	.	.	0.765502756218	0.76336	0.4931044712262911	0.49231	1.00506720393	0.74559	0.34208971262	0.16751	T	0.051	0.28612	T	-0.300587	0.08605	T	-0.202214	0.54437	T	0.0279728245438772	0.01684	T	0.975069	0.91165	D	0.16940765	0.37455	0.14295916	0.33993	0.16940765	0.37454	0.14295916	0.33992	-3.47	0.16014	T	.	.	0.096	0.15564	B	.	.	3.968249	0.58246	24.0	0.99687093604464116	0.79641	0.90357	0.51468	D	AEFDBCI	0.575166	0.57766	D	0.122767568732983	0.47525	2.977131	0.206034481605013	0.50182	3.212956	0.999991231405704	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.298653	0.05632	1	0.345915	0.05782	2	.	.	5.61	5.61	0.85347	2.032000	0.40747	8.676000	0.78026	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.704000	0.34264	0.0:0.0:0.8531:0.1469	14.478	0.67138	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	874.33	40	chr6	35241648	.	G	A	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=775;ExcessHet=0;FS=6.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=1.14;SOR=0.41	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1435	18	0	1	0
chr6	35242700	35242700	G	A	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon14:c.G1610A:p.R537Q,SCUBE3:NM_152753:exon14:c.G1613A:p.R538Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	2434771	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.0316877991409	7.7e-05	0.000199681	0.0003	0	0	0.0007	0	0.0002	0.0011	0.0011	0.0002393	37	154602	rs200921745	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0009	0.0008	5.974e-05	2.236e-05	0	0.0007	0	0.0007	0.0003	0.0003	0.0010	0.0001	0.0001	0.0001	0.0002	0.0017	9.736e-05	8.252e-05	0.0009	0.0007	7.215e-05	0	0	0	0.0017	0	0.0034	8.821e-05	0	0.0006	0.089	0.32141	T	0.096	0.39340	T	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.7	0.43825	L	-1.67	0.82806	D	-1.82	0.42763	N	0.533	0.56145	0.186	0.85679	D	0.633	0.87147	D	10	0.111700594	0.20926	T	0.031688	0.53708	D	0.571	0.82573	.	.	0.727971007717	0.72556	0.635437669502499	0.63477	0.455680664173	0.45236	0.689064741135	0.65572	T	0.150811	0.49046	T	-0.0537344	0.43877	T	0.099597	0.76881	D	0.0449189680202838	0.04588	T	0.916408	0.70110	D	0.34835863	0.56939	0.28522217	0.54524	0.34835863	0.56939	0.28522217	0.54523	-6.61	0.51130	T	.	.	0.220	0.45024	B	.	.	5.533388	0.91895	32	0.99950792873078775	0.99944	0.98720	0.85993	D	AEFDBI	0.886019	0.81705	D	0.765208678125191	0.83892	8.137842	0.762451224370926	0.87087	9.101686	0.999999999999567	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	7.608000	0.82114	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.302	0.94135	248	0.90287	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	33	chr6	35242700	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=1.01;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr6	35291636	35291636	G	A	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon9:c.G830A:p.R277H,ZNF76:NM_003427:exon9:c.G830A:p.R277H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0180587921845	.	.	4.948e-05	0	0	0	0	6.003e-05	0	0.0001	4.53e-05	7	154602	rs571965399	1.368e-05	1.437e-05	1.089e-05	1.65e-05	5.797e-05	8.94e-06	7.26e-06	2.194e-05	1.43e-05	0	0	0	2.519e-05	0	0	1.259e-05	0	5.797e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000339	0.45700	D	0.000000	1	0.81001	D	2.15	0.60148	M	1.78	0.25678	T	-4.41	0.77391	D	0.882	0.88027	-0.7359	0.58663	T	0.169	0.50971	T	10	0.78940713	0.78528	D	0.018059	0.39994	T	0.507	0.78786	.	.	0.627131723059	0.62409	0.48419156852991424	0.48339	0.825195395317	0.67364	0.930856704712	0.99035	D	0.148407	0.48694	T	0.130651	0.67424	D	0.152548	0.80346	D	0.89594167470932	0.54758	D	0.942806	0.78426	D	0.6797961	0.76958	0.47831935	0.69780	0.6797961	0.76960	0.47831935	0.69780	-12.241	0.86038	D	.	.	0.987	0.92817	P	.;.;.	.;.;.	6.623923	0.95499	35	0.99957072534136826	0.99981	0.99034	0.90260	D	AEFBI	0.925233	0.90447	D	0.917148318750129	0.92573	11.50192	0.860734437366906	0.93627	12.16956	0.999999999999996	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	8.151000	0.89575	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.721	0.88258	309	0.87553	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2784.33	190	chr6	35291636	.	G	A	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.082;DP=905;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.958;SOR=0.977	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,108,1620	18	0	1	0
chr6	35455937	35455937	G	A	exonic	FANCE	.	nonsynonymous SNV	FANCE:NM_021922:exon2:c.G439A:p.G147R	Fanconi anemia, complementation group E, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0042553343621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.009	0.66756	D	0.025	0.19245	B	0.016	0.17743	B	0.848878	0.08977	N	0.934808	1	0.08975	N	1.845	0.48678	L	0.8	0.48769	T	-2.12	0.48184	N	0.126	0.11912	-0.9798	0.35048	T	0.044	0.19029	T	10	0.125007	0.23750	T	0.004255	0.10278	T	0.043	0.11576	0.414	0.45216	0.620183206235	0.61710	0.16141212649201928	0.16062	0.161341295611	0.18212	0.43249759078	0.29550	T	0.137552	0.47056	T	-0.187832	0.22578	T	-0.507584	0.21563	T	0.10792071905652	0.13206	T	0.69743	0.30707	T	0.07010363	0.15412	0.10175142	0.24366	0.07010363	0.15412	0.10175142	0.24366	-3.949	0.23038	T	0.2327601318376261	0.31505	0.134	0.29032	B	.	.	2.332562	0.29881	18.26	0.99677265506432511	0.78977	0.07335	0.13357	N	AEFBI	0.048953	0.08407	N	-0.749575356828061	0.14646	0.7312667	-0.751040044502698	0.15697	0.8268293	0.303377406100183	0.19212	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.37	3.59	0.40253	1.404000	0.34232	2.470000	0.32893	0.671000	0.69459	0.033000	0.20612	0.082000	0.22400	0.008000	0.08271	0.2558:0.0:0.7442:0.0	7.678	0.27663	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1010.33	64	chr6	35455937	.	G	A	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1198;ExcessHet=0;FS=3.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.221;SOR=0.338	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr6	35477319	35477319	G	A	exonic	TEAD3	.	nonsynonymous SNV	TEAD3:NM_003214:exon8:c.C584T:p.T195M	.	418	1103	1	0	0	1	0.000453104	.	.	.	2729596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0150071486071	0.0002	0.000399361	0.0002	0.0001	0.0005	0	0	0.0002	0	0.0001	0.0001746	27	154602	rs199668648	8.242e-05	8.482e-05	8.065e-05	8.42e-05	0.0007	7.03e-05	6.578e-05	0.0004	0.0003	0.0002	0.0006	7.653e-05	2.519e-05	0	0.0007	5.577e-05	0.0002	8.116e-05	0.0001	0.0001	8.993e-05	0.0002	0.0011	8.659e-05	7.252e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	2.94e-05	0	0.0002	0.056	0.38185	T	0.091	0.40110	T	.	.	.	.	.	.	0.004198	0.34013	N	0.316782	0.999919	0.19599	N	.	.	.	1.55	0.29866	T	-1.81	0.42575	N	.	.	-1.0833	0.06720	T	0.076	0.30397	T	10	0.06661466	0.09162	T	0.015007	0.35490	T	0.086	0.25016	.	.	0.389750110748	0.38591	0.2852345618923032	0.28436	.	.	0.425604343414	0.28607	T	.	.	.	-0.446648	0.01182	T	-0.510605	0.21252	T	0.0840055271983147	0.10491	T	0.847215	0.52823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11606	B	.;.	.;.	4.191429	0.63182	24.5	0.99023910815561278	0.50634	0.83733	0.42832	D	AEFDBHCI	0.651787	0.62541	D	0.31249655364561	0.56790	3.844291	0.275410323925857	0.54107	3.576788	0.999999999999999	0.74766	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	5.183000	0.64902	9.722000	0.81369	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.715000	0.34611	0.0:0.0:1.0:0.0	15.872	0.78908	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1381.33	34	chr6	35477319	.	G	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=740;ExcessHet=0;FS=7.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.801;SOR=1.269	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1478	18	0	1	0
chr6	35577112	35577112	T	A	exonic	FKBP5	.	nonsynonymous SNV	FKBP5:NM_001145776:exon10:c.A1148T:p.Q383L,FKBP5:NM_004117:exon10:c.A1148T:p.Q383L,FKBP5:NM_001145775:exon11:c.A1148T:p.Q383L	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.018912883136	0.0016	0.00259585	0.0019	0.0018	0.0025	0.0006	0.0002	0.0022	0.0044	0.0018	0.0018758	290	154602	rs146787424	0.0017	0.0017	0.0016	0.0017	0.0132	0.0016	0.0016	0.0108	0.0099	0.0014	0.0029	0.0068	0.0006	5.616e-05	0.0132	0.0015	0.0023	0.0018	0.0018	0.0018	0.0017	0.0019	0.0034	0.0016	0.0015	0.0027	0.0024	0.0014	0	0.0034	0.0058	0.0013	0	0.0170	0.0016	0.0057	0.0012	0.233	0.18122	T	0.238	0.24549	T	0.074	0.24142	B	0.021	0.19346	B	0.057842	0.22448	N	0.483081	0.99796	0.48557	D	2.01	0.54746	M	-0.82	0.74053	T	-2.6	0.55983	D	0.346	0.39457	-0.6465	0.62866	T	0.228	0.59334	T	10	0.013197273	0.00281	T	0.018913	0.41124	T	0.226	0.52472	.	.	0.874284516546	0.87305	0.23073804785065413	0.22988	0.302540805648	0.32581	0.421082854271	0.27985	T	0.684351	0.90763	D	-0.329494	0.06150	T	-0.250063	0.49810	T	0.0183052004325224	0.00549	T	0.770723	0.40088	T	0.34287447	0.56507	0.2405378	0.49429	0.34287447	0.56507	0.2405378	0.49428	-6.421	0.49673	T	.	.	0.100	0.16973	B	.;.;.	.;.;.	3.127156	0.42246	21.5	0.98789857504861767	0.46269	0.90336	0.51431	D	AEFGBI	0.452357	0.50594	N	0.0372090316898814	0.43554	2.646137	0.180386521300587	0.48774	3.088801	0.999992792176025	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	2.199000	0.42348	7.713000	0.66906	0.665000	0.62972	0.826000	0.30074	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1466:0.8534	11.790	0.51337	540	0.73006	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020645	0.050505	0.024457	0.023392	0.000000	0.008621	0.012195	0.000000	0.02632	3738.33	40	chr6	35577112	.	T	A	3738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.016;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1421	18	0	1	0
chr6	35779456	35779456	G	A	exonic	CLPSL2	.	nonsynonymous SNV	CLPSL2:NM_001286550:exon4:c.G388A:p.D130N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00313799951246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.999	0.77913	D	0.961	0.70482	D	0.058808	0.22372	N	0.226337	1	0.20203	N	.	.	.	.	.	.	-0.5	0.15782	N	0.195	0.21449	-1.0273	0.21331	T	0.130	0.44048	T	8	0.1970444	0.35620	T	0.003138	0.06845	T	0.056	0.15993	0.296	0.26041	0.144782658237	0.14088	0.047918421383353844	0.04734	.	.	.	.	.	.	.	.	-0.244838	0.14738	T	-0.58947	0.13711	T	0.775390446186066	0.44766	D	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-4.518	0.31123	T	.	.	0.150	0.33179	B	.	.	0.772768	0.11430	8.036	0.98061932687457942	0.37952	0.11259	0.16515	N	AEFDBI	0.034835	0.04386	N	-0.160290012090263	0.34798	1.990676	-0.389480903430149	0.25309	1.391075	4.54852888048872E-5	0.03989	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.44	2.56	0.29842	1.273000	0.32724	1.150000	0.24473	0.526000	0.24426	0.054000	0.21560	0.009000	0.19889	0.067000	0.16453	0.0:0.0:0.7655:0.2345	8.288	0.31102	501	0.75956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	46	chr6	35779456	.	G	A	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.886;SOR=0.674	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr6	35959470	35959470	G	A	exonic	SLC26A8	.	nonsynonymous SNV	SLC26A8:NM_138718:exon14:c.C1538T:p.P513L,SLC26A8:NM_001193476:exon16:c.C1853T:p.P618L,SLC26A8:NM_052961:exon16:c.C1853T:p.P618L	Spermatogenic failure 3, Autosomal dominant	431	1078	13	0	0	13	0.00599355	.	.	.	2733220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.173972452045	0.0003	0.000199681	0.0003	0.0001	0.0003	0.0001	0	0.0003	0	0.0006	0.0002846	44	154602	rs149456040	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	6.035e-05	0.0004	0	0.0001	1.873e-05	0.0010	0.0002	0.0003	0.0003	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	7.231e-05	0.0044	0.0009	0	0	0	0	0.0005	0.0009	0.0002	0.034	0.46129	D	0.24	0.24406	T	0.952	0.54136	P	0.411	0.44827	B	0.000935	0.41028	N	0.174753	0.999448	0.47197	D	0.935	0.23595	L	-4.42	0.98748	D	-4.29	0.76414	D	0.229	0.25989	0.820	0.94660	D	0.862	0.95418	D	10	0.044058084	0.03322	T	0.173972	0.85050	D	0.360	0.68052	.	.	0.724417562041	0.72197	0.5955555143036567	0.59485	0.32220201379	0.34410	0.359478056431	0.19309	T	0.511774	0.82754	D	-0.128861	0.31682	T	-0.0928744	0.63945	T	0.0459042418771977	0.04766	T	0.732227	0.34774	T	0.10860035	0.25678	0.17739664	0.40338	0.10860035	0.25677	0.17739664	0.40337	-3.086	0.12677	T	.	.	0.152	0.37951	B	.;.;.	.;.;.	3.210795	0.43707	21.8	0.94930786310479043	0.25814	0.92613	0.56125	D	AEFBI	0.311077	0.41691	N	0.0937743360673715	0.46172	2.861763	0.12521665489317	0.45842	2.840342	0.993389868853262	0.33194	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	5.52	0.82153	2.939000	0.48687	6.673000	0.56285	0.672000	0.70159	0.997000	0.40164	1.000000	0.68203	0.146000	0.20164	0.0:0.0:1.0:0.0	15.347	0.74059	513	0.74941	STAS domain|STAS domain;.;STAS domain|STAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	677.33	34	chr6	35959470	.	G	A	677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.062;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	18	0	1	0
chr6	36108392	36108392	A	G	exonic	MAPK14	.	nonsynonymous SNV	MAPK14:NM_001315:exon12:c.A1028G:p.D343G,MAPK14:NM_139012:exon12:c.A1028G:p.D343G	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.00945156123078	0.0008	0.00159744	0.0010	0.0008	0.0017	0.0003	0.0002	0.0010	0.0022	0.0012	0.0010543	163	154602	rs45496794	0.0011	0.0011	0.0011	0.0011	0.0021	0.0010	0.0010	0.0015	0.0013	0.0003	0.0018	0.0015	0.0005	0.0002	0.0021	0.0011	0.0017	0.0012	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0007	0.0006	0.0003	0	0.0010	0.0023	0.0014	0.0002	0	0.0009	0.0028	0.0010	0.132	0.26519	T	0.174	0.35330	T	0.0	0.02946	B	0.004	0.10090	B	0.000072	0.52346	D	0.168693	0.999998	0.81001	D	1.84	0.48285	L	0.98	0.42122	T	-3.16	0.64246	D	0.415	0.49420	-1.0976	0.04394	T	0.051	0.21533	T	10	0.021505833	0.00516	T	0.009452	0.24763	T	0.309	0.63055	.	.	0.641978480621	0.63902	0.6136772592270269	0.61299	0.926654878989	0.71671	0.543780326843	0.44979	T	0.743889	0.92929	D	-0.216856	0.18424	T	-0.119653	0.61832	T	0.0765669063433837	0.09542	T	0.868913	0.57326	D	0.56512094	0.70792	0.45242777	0.68147	0.56512094	0.70793	0.45242777	0.68148	-3.436	0.15642	T	.	.	0.176	0.38409	B	.;.;.	.;.;.	3.874720	0.56279	23.7	0.96665292820558468	0.30643	0.99696	0.98747	D	AEFBI	0.940391	0.94228	D	0.10342146099628	0.46621	2.899773	0.320426936476215	0.56743	3.83797	0.999999999958546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.290000	0.95109	9.416000	0.80730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	16.161	0.81518	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.020202	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1285.33	35	chr6	36108392	.	A	G	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=768;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-2.316;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	18	0	1	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R,PNPLA1:NM_001374623:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	228.34	35	chr6	36291365	.	A	G	228.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.405;DP=1032;ExcessHet=0;FS=85.583;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.7;SOR=6.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1408:.	18	0	1	0
chr6	36295394	36295394	G	A	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145716:exon5:c.G487A:p.E163K,PNPLA1:NM_001145717:exon5:c.G745A:p.E249K,PNPLA1:NM_001374623:exon5:c.G745A:p.E249K,PNPLA1:NM_173676:exon5:c.G460A:p.E154K	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	302705	Autosomal_recessive_congenital_ichthyosis_10|not_provided|PNPLA1-related_disorder	MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0170453820994	0.0029	0.00399361	0.0026	0.0022	0.0054	0	0.0002	0.0028	0.0033	0.0025	0.0027684	428	154602	rs45524833	0.0030	0.0030	0.0031	0.0029	0.0068	0.0029	0.0029	0.0062	0.0059	0.0016	0.0068	0.0016	0	0.0002	0.0045	0.0032	0.0034	0.0027	0.0031	0.0031	0.0032	0.0029	0.0076	0.0028	0.0027	0.0065	0.0061	0.0024	0	0.0076	0.0026	0	0.0003	0.0136	0.0029	0.0080	0.0031	0.209	0.20078	T	0.585	0.08361	T	0.005	0.19866	B	0.004	0.10090	B	0.146723	0.18103	N	0.485844	0.99911	0.22098	N	0.895	0.22405	L	-0.51	0.70597	T	0.05	0.08187	N	0.389	0.44474	-1.0676	0.09948	T	0.064	0.26456	T	10	0.01514864	0.00318	T	0.017045	0.38587	T	0.109	0.30843	.	.	0.773713791686	0.77163	.	.	0.327457134625	0.34885	0.408063471317	0.26188	T	5.61E-4	0.00225	T	-0.407426	0.02068	T	-0.355126	0.38615	T	0.00837962907438959	0.00101	T	0.680532	0.29402	T	0.05591676	0.10932	0.06536079	0.13236	0.056079306	0.10984	0.08050326	0.18216	-1.267	0.01349	T	.	.	0.273	0.50708	B	.;.;.;.	.;.;.;.	2.754772	0.36121	20.2	0.98602386920863672	0.43520	0.62455	0.31787	D	AEFDBI	0.195175	0.32222	N	-0.5613545260136	0.20129	1.058876	-0.414707268325894	0.24565	1.345909	0.580902509800171	0.21570	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.81	3.97	0.45241	2.897000	0.48363	6.073000	0.53275	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.267000	0.23694	0.0952:0.2128:0.6919:0.0	7.286	0.25514	799	0.44747	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.030303	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1399.33	33	chr6	36295394	.	G	A	1399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.338;DP=752;ExcessHet=0;FS=2.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.199;SOR=0.618	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1437	18	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.02632	2234.33	196	chr6	36319517	.	G	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=827;ExcessHet=0;FS=8.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.035;SOR=0.562	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1391	18	0	1	0
chr6	36323307	36323307	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon8:c.C1457T:p.T486I	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0005	0.0181709	0.0083	0.0006	0.0116	0.0309	0.0027	0.0005	0.0099	0.0325	0.0076196	1178	154602	rs140941189	0.0035	0.0035	0.0027	0.0044	0.0331	0.0034	0.0034	0.0317	0.0311	0.0003	0.0087	0	0.0331	0.0033	0.0012	0.0002	0.0052	0.0316	0.0032	0.0032	0.0023	0.0041	0.0368	0.0030	0.0029	0.0326	0.0309	0.0004	0	0.0031	0	0.0368	0.0031	0	0.0004	0.0028	0.0344	0.713	0.04008	T	0.512	0.10750	T	0.002	0.09854	B	0.001	0.04355	B	0.159692	0.03028	N	1.671760	1	0.08975	N	0.455	0.12820	N	1.28	0.35960	T	0.25	0.04456	N	0.209	0.23253	-1.0541	0.13278	T	0.022	0.09421	T	10	0.0017086267	0.00021	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.12373059637144809	0.12299	0.0863729227571	0.09749	.	.	.	0.015179	0.12784	T	-0.717039	0.00029	T	-0.771337	0.02725	T	0.00406352300113952	0.00043	T	0.487551	0.14930	T	0.027163245	0.01869	0.035906404	0.02933	0.027163245	0.01868	0.035906404	0.02933	-2.035	0.03315	T	.	.	0.087	0.11269	B	.	.	0.592708	0.09614	6.385	0.96939371585618117	0.31692	0.00656	0.02847	N	ALL	0.026720	0.02056	N	-1.11022175107038	0.06461	0.2974658	-1.11753602390427	0.07365	0.3579687	0.97336147153036	0.29449	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.59	-1.39	0.08526	-0.215000	0.09284	-0.656000	0.08004	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4751:0.1668:0.3581:0.0	4.668	0.12061	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.011364	0.02632	794.33	34	chr6	36323307	.	G	A	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.129;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	18	0	1	0
chr6	36330116	36330116	C	T	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.G575A:p.R192H	.	424	1080	18	0	0	18	0.00826446	.	.	.	2822985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00379779117768	0.0020	0.00239617	0.0017	0.0045	0.0006	0.0012	0	0.0008	0.0011	0.0053	0.0015071	233	154602	rs41272160	0.0011	0.0011	0.0010	0.0013	0.0054	0.0011	0.0011	0.0050	0.0048	0.0041	0.0003	0.0011	0.0004	0	0.0017	0.0008	0.0018	0.0054	0.0020	0.0020	0.0019	0.0020	0.0048	0.0018	0.0017	0.0037	0.0035	0.0042	0.0197	0.0007	0.0026	0.0008	0	0	0.0009	0.0019	0.0048	0.566	0.06262	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.060311	0.02131	N	2.297830	1	0.08975	N	-0.695	0.01866	N	0.87	0.46412	T	-0.1	0.08495	N	0.114	0.10198	-1.0679	0.09880	T	0.013	0.04985	T	10	0.004160762	0.00082	T	0.003798	0.08868	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.0405871908502603	0.04004	0.0130989317714	0.01263	.	.	.	0.010059	0.09113	T	-0.680292	0.00048	T	-0.749015	0.03524	T	0.000239710886555343	0.00002	T	0.330167	0.06908	T	0.01529048	0.00131	0.020923888	0.00163	0.01529048	0.00131	0.020923888	0.00163	-4.406	0.29638	T	.	.	0.075	0.05404	B	.	.	-1.219395	0.00512	0.012	0.60335424508545332	0.06439	0.00323	0.01694	N	AEFDBHI	0.026424	0.01982	N	-1.80501725071513	0.00533	0.02294782	-1.89417482894301	0.00503	0.02227517	0.999995984963679	0.74766	0.520426	0.21595	0	0.610034	0.51514	0	0.440839	0.06518	1	0.530356	0.10902	0	.	.	2.46	-4.92	0.02848	-2.146000	0.01380	-7.661000	0.01110	-1.164000	0.01408	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1405:0.1817:0.149:0.5289	1.856	0.02985	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.000000	0.002924	0.050000	0.000000	0.000000	0.003788	0.05263	2080.83	34	chr6	36330116	.	C	T	2080.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.517;DP=768;ExcessHet=0.119;FS=0.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.955;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1067	17	0	2	0
chr6	36474840	36474840	T	C	exonic	KCTD20	.	nonsynonymous SNV	KCTD20:NM_173562:exon3:c.T212C:p.I71T	.	430	1082	8	2	0	12	0.00551471	.	.	.	2391513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00645101592564	7.7e-05	0.000399361	0.0002	9.639e-05	0.0002	0	0	0.0001	0.0011	0.0005	0.0001358	21	154602	rs200626478	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0040	0.0035	5.974e-05	0.0002	3.827e-05	2.519e-05	3.744e-05	0.0055	0.0001	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.696e-05	0.0002	0.0001	4.811e-05	0	6.539e-05	0	0	0	0	0.0002	0.0009	0.0006	0.007	0.59928	D	0.509	0.51421	T	0.002	0.09854	B	0.007	0.12992	B	0.009258	0.30447	N	0.283820	1	0.08975	N	0.975	0.24501	L	0.82	0.48142	T	0.38	0.79229	N	0.14	0.13911	-1.0129	0.26007	T	0.026	0.11309	T	10	0.042910278	0.03087	T	0.006451	0.16985	T	0.062	0.17934	.	.	0.383089235449	0.37922	0.2963478417883308	0.29547	0.508096724418	0.48977	0.462824910879	0.33698	T	0.010333	0.42474	T	-0.375261	0.03336	T	-0.448853	0.27823	T	0.0256617565011528	0.01361	T	0.655934	0.36507	T	0.06191157	0.12875	0.07188944	0.15446	0.06191157	0.12874	0.07188944	0.15446	-2.711	0.07396	T	.	.	0.089	0.54397	B	.;.;.;.	.;.;.;.	2.043938	0.25985	16.96	0.9870495435920249	0.44967	0.31756	0.24417	N	AEBI	0.095576	0.19308	N	-0.533493645226267	0.21004	1.11151	-0.3866632815838	0.25393	1.396228	0.0082523330473526	0.11641	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	3.15	0.35301	1.987000	0.40309	1.087000	0.23945	0.665000	0.62972	0.441000	0.26495	0.002000	0.18203	0.987000	0.62547	0.0:0.0811:0.1623:0.7566	6.245	0.20020	405	0.82444	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.005102	0.005435	0.014620	0.000000	0.008621	0.003049	0.003788	0.02632	1776.33	46	chr6	36474840	.	T	C	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.366;DP=757;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.146;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1286	18	0	1	0
chr6	36720510	36720510	G	A	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon8:c.G976A:p.A326T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.387e-05	1.847e-05	8.76e-06	1.959e-05	1.521e-05	8.33e-06	6.6e-06	8.83e-06	6.91e-06	0	0	0	0	0	0	1.521e-05	2.284e-05	0	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	0.969832	0.25734	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	.	.	.	.	.	.	.	0.11046749	0.20648	T	.	.	.	.	.	.	.	0.187945064343	0.18414	0.15856884854844897	0.15777	.	.	0.372674047947	0.21215	T	.	.	.	0.0297115	0.55684	T	-0.195098	0.55110	T	.	.	.	0.517648	0.16760	T	0.024089802	0.01207	0.13137104	0.31548	0.024089802	0.01207	0.13137104	0.31547	-6.578	0.50885	T	.	.	0.12	0.24767	B	.	.	1.637894	0.20906	14.96	0.76495778269658532	0.11491	0.09533	0.15268	N	AEFDGBHCI	0.034362	0.04242	N	.	.	.	.	.	.	0.912604029818351	0.26400	0.077194	0.01811	0	0.071152	0.01849	0	0.060301	0.00762	0	0.083433	0.02327	0	.	.	4.53	2.67	0.30756	0.462000	0.21667	0.039000	0.13841	0.614000	0.49286	0.035000	0.20724	0.000000	0.08366	0.311000	0.24761	0.0:0.1859:0.6216:0.1925	7.405	0.26156	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	35	chr6	36720510	.	G	A	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=699;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.44;SOR=0.841	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1289	18	0	1	0
chr6	36721879	36721879	C	T	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1745T:p.P582L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0006	0	0	0	0	0	0	0.0088	9.06e-05	14	154602	rs569928527	0.0004	0.0003	0.0004	0.0004	0.0110	0.0004	0.0004	0.0086	0.0077	0.0004	0.0006	0.0014	7.535e-05	0.0001	0.0110	0.0003	0.0005	0.0021	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0005	0.0004	0.0004	0	0.0004	0.0006	0.0002	0	0	0.0006	0.0009	0.0012	.	.	.	0.376	0.16182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.004548669	0.00094	T	.	.	.	.	.	.	.	0.42069145522	0.41685	0.17414570630299972	0.17333	.	.	0.294509768486	0.09585	T	.	.	.	-0.453365	0.01079	T	-0.55694	0.16665	T	.	.	.	0.461354	0.13375	T	0.040594134	0.05823	0.07634969	0.16900	0.040594134	0.05823	0.07634969	0.16900	-4.264	0.27669	T	.	.	0.077	0.06205	B	.	.	-0.448802	0.02037	0.184	0.8909027519517525	0.18503	0.01790	0.05598	N	AEFDBCI	0.035238	0.04501	N	.	.	.	.	.	.	0.90534829990739	0.26202	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	3.88	-4.1	0.03674	-1.637000	0.02117	-10.830000	0.00661	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1494:0.216:0.0:0.6346	5.862	0.18006	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3615.83	59	chr6	36721879	.	C	T	3615.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.37;DP=1254;ExcessHet=0.119;FS=2.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.102;SOR=0.857	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	17	0	2	0
chr6	36743740	36743740	G	A	exonic	CPNE5	.	nonsynonymous SNV	CPNE5:NM_001376894:exon9:c.C782T:p.T261M	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0004	0.0002	8.64e-05	0	0	0.0006	0.0011	0.0003	0.0003622	56	154602	rs149761685	0.0004	0.0004	0.0004	0.0004	0.0111	0.0004	0.0004	0.0089	0.0081	0.0002	0.0004	0.0006	0	5.792e-05	0.0111	0.0004	0.0007	0.0004	0.0005	0.0005	0.0006	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0001	0.0318	0.0005	0.0012	0	0	0.0068	0.0005	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.006793	0.020468	0.000000	0.034483	0.009146	0.007576	0.02632	1152.33	46	chr6	36743740	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=900;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.106;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr6	36959160	36959160	C	G	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon2:c.C187G:p.L63V,PI16:NM_001199159:exon3:c.C187G:p.L63V	.	434	1087	0	1	0	2	0.000919118	.	.	.	3463338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0220125527082	7.7e-05	.	9.773e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs142992403	3.363e-05	3.352e-05	2.048e-05	4.693e-05	0.0004	2.575e-05	2.319e-05	0.0003	0.0002	0	0	0	0	0	0	1.441e-05	0	0.0004	1.97e-05	1.97e-05	0	4.033e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.045	0.40832	D	0.16	0.31427	T	0.999	0.77913	D	0.981	0.75168	D	0.000749	0.42006	D	0.101480	0.789199	0.34364	D	2.02	0.55341	M	1.66	0.27486	T	-2.55	0.55181	D	0.84	0.83576	-1.0001	0.29888	T	0.087	0.33690	T	10	0.1465804	0.27788	T	0.022013	0.44852	T	0.198	0.48105	.	.	0.225902525712	0.22197	0.8296751636060864	0.82925	1.04960781204	0.76100	0.488903671503	0.37286	T	0.109785	0.42395	T	-0.21401	0.18817	T	-0.204638	0.54206	T	0.279867738485336	0.24166	T	0.840716	0.51609	T	0.4268025	0.62543	0.47093442	0.69323	0.4268025	0.62543	0.47093442	0.69323	-7.978	0.60920	D	.	.	0.509	0.65176	A	.;.;.	.;.;.	4.122457	0.61634	24.4	0.99652520340618278	0.77380	0.84193	0.43276	D	AEFBHCI	0.282773	0.39603	N	0.520163450359876	0.68281	5.195923	0.519868728797181	0.69329	5.344722	0.999926910244636	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.600433	0.31921	0	0.604944	0.38103	0	.	.	5.29	5.29	0.74430	1.770000	0.38162	3.977000	0.40873	0.580000	0.29708	0.936000	0.32490	1.000000	0.68203	0.998000	0.85391	0.0:0.8391:0.0:0.1609	9.365	0.37379	840	0.37365	CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP domain;CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP domain;CAP domain|CAP domain|Peptidase inhibitor 16-like, SCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	979.33	74	chr6	36959160	.	C	G	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.214;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.97;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr6	36963496	36963496	C	T	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon5:c.C1154T:p.A385V,PI16:NM_001199159:exon6:c.C1154T:p.A385V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0135582113071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.157	0.31730	T	0.164	0.28467	B	0.049	0.25116	B	0.010303	0.29978	N	0.231803	1	0.81001	D	2.125	0.59049	M	2.47	0.14783	T	-1.41	0.34795	N	0.118	0.10769	-1.0616	0.11361	T	0.015	0.05849	T	10	0.07599944	0.11816	T	0.013558	0.33056	T	0.019	0.03383	0.238	0.16912	0.202086224978	0.19791	0.24930524442580887	0.24844	0.561778919436	0.52677	0.322053104639	0.13732	T	0.016205	0.13439	T	-0.243049	0.14963	T	-0.586899	0.13935	T	0.905791461467743	0.55964	D	0.634137	0.24845	T	0.111672334	0.26387	0.17889854	0.40589	0.111672334	0.26387	0.17889854	0.40588	-4.03	0.24251	T	.	.	0.102	0.17785	B	.;.;.	.;.;.	2.896289	0.38372	20.7	0.9977545234374201	0.86260	0.20675	0.21128	N	AEFDBCI	0.093063	0.18834	N	-0.354816974934638	0.27095	1.483902	-0.261405358588091	0.29381	1.645622	0.999999856105662	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	5.14	3.26	0.36471	1.439000	0.34623	1.863000	0.29335	0.599000	0.40250	0.090000	0.22578	0.971000	0.29754	0.998000	0.85391	0.0:0.7687:0.1458:0.0855	9.374	0.37433	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1953.33	43	chr6	36963496	.	C	T	1953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.1;DP=1309;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.8;SOR=0.841	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr6	36986128	36986128	C	A	exonic	MTCH1	.	nonsynonymous SNV	MTCH1:NM_001271641:exon1:c.G46T:p.A16S,MTCH1:NM_014341:exon1:c.G46T:p.A16S	.	456	1057	8	1	0	10	0.0047081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00219649	0.0058	0	0	0	.	0.0047	0	0.0066	0.0005239	81	154602	rs564000422	0.0009	0.0008	0.0008	0.0010	0.0079	0.0008	0.0008	0.0057	0.0049	0.0003	0.0016	0.0022	0.0001	9.237e-05	0.0079	0.0006	0.0013	0.0046	0.0007	0.0007	0.0007	0.0007	0.0052	0.0006	0.0006	0.0036	0.0031	9.637e-05	0	0.0015	0.0029	0	0	0.0138	0.0005	0.0019	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.086	0.24919	B	0.012	0.16012	B	.	.	.	.	0.965373	0.25941	N	1.245	0.31408	L	1.37	0.34253	T	-0.03	0.07444	N	0.391	0.43223	-1.0740	0.08556	T	0.023	0.09832	T	9	0.0047652423	0.00101	T	.	.	.	0.037	0.09474	0.248	0.18447	0.223474106383	0.21959	0.11307516205822211	0.11235	0.804444842455	0.66392	0.916550040245	0.98049	D	0.006923	0.06344	T	-0.371776	0.03506	T	-0.30654	0.44030	T	0.132793025627819	0.15638	T	0.716728	0.32905	T	0.17461944	0.38276	0.3202021	0.57976	0.17461944	0.38275	0.3202021	0.57976	-5.499	0.42370	T	.	.	0.133	0.28835	B	.;.	.;.	2.979196	0.39734	21.0	0.98995713057757562	0.50044	0.96773	0.70862	D	ALL	0.125880	0.24258	N	-0.39203162948028	0.25752	1.40029	-0.278665749246669	0.28803	1.608724	0.999999999999941	0.74766	0.006267	0.00052	3	0.218748	0.04544	0	0.47417	0.07244	0	0.249971	0.05119	0	.	.	3.79	1.92	0.24912	1.010000	0.29500	5.455000	0.48656	0.546000	0.25710	0.073000	0.22155	1.000000	0.68203	0.997000	0.79791	0.0:0.6552:0.2211:0.1237	4.894	0.13096	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008565	0.000000	0.000000	0.018692	0.000000	0.000000	0.005682	0.016667	0.02632	327.34	17	chr6	36986128	.	C	A	327.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.361;DP=348;ExcessHet=0;FS=2.831;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=0.198;SOR=0.112	GT:AD:DP:GQ:PL	0/0:21,0:21:54:0,54,810	18	0	1	0
chr6	37284381	37284381	C	T	exonic	TBC1D22B	.	nonsynonymous SNV	TBC1D22B:NM_017772:exon6:c.C718T:p.R240W	.	.	.	.	.	.	.	.	.	.	.	2375923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.126932106778	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs751520700	7.529e-06	7.524e-06	9.535e-06	5.503e-06	1.161e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.5	0.92762	M	2.7	0.12162	T	-7.3	0.94484	D	0.81	0.80572	-0.6318	0.63494	T	0.105	0.38562	T	10	0.805194	0.79867	D	0.126932	0.80867	D	0.406	0.71869	0.558	0.67684	0.784233792205	0.78223	0.7696648650756733	0.76915	1.6632084262	0.89711	0.822982311249	0.85485	D	0.400282	0.75790	T	0.174313	0.71518	D	0.0126119	0.71151	D	0.968269999533102	0.68184	D	0.996	0.98587	D	0.8140187	0.84820	0.67972904	0.81183	0.8140187	0.84821	0.67972904	0.81184	-11.71	0.83410	D	.	.	0.926	0.84689	P	.	.	4.888513	0.80238	27.3	0.99917729553936363	0.98518	0.88218	0.48048	D	AEFBI	0.496045	0.53116	N	0.510469416934911	0.67705	5.117717	0.36514936782804	0.59426	4.120226	0.658748262549821	0.22247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.448	0.15824	0.212000	0.17289	2.205000	0.31320	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.998000	0.85391	0.5679:0.4321:0.0:0.0	15.668	0.77002	709	0.56835	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2044.33	36	chr6	37284381	.	C	T	2044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=742;ExcessHet=0;FS=3.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.757;SOR=1.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	18	0	1	0
chr6	37390764	37390764	G	A	exonic	RNF8	.	nonsynonymous SNV	RNF8:NM_183078:exon7:c.G1259A:p.R420H	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00100551078692	7.7e-05	0.000399361	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	3.88e-05	6	154602	rs149383616	3.353e-05	3.625e-05	2.86e-05	3.851e-05	0.0009	2.567e-05	2.312e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.339e-05	6.626e-05	0.0002	6.567e-05	6.562e-05	8.995e-05	4.029e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	4.812e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0002	0.289	0.15047	T	0.413	0.14412	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	2.35	0.00275	N	0.117	0.10626	-0.9694	0.37324	T	0.040	0.17106	T	6	0.037265718	0.02071	T	0.001006	0.01073	T	0.045	0.12272	.	.	0.346610688518	0.34274	.	.	.	.	.	.	.	.	.	.	-0.427433	0.01536	T	-0.615086	0.11575	T	0.0242274979422406	0.01173	T	0.359064	0.08235	T	.	.	.	.	.	.	.	.	-0.89	0.00886	T	.	.	0.076	0.06024	B	.	.	-0.793086	0.01120	0.051	0.93701735284392162	0.23613	0.00365	0.01864	N	AEFDBI	0.017416	0.00455	N	-1.19906809787613	0.05014	0.2276249	-1.42473961435914	0.03006	0.1394304	0.792881667662761	0.24046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	-6.67	0.01618	-1.243000	0.03015	-0.102000	0.11930	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.288:0.1335:0.4483:0.1303	3.506	0.07251	740	0.53092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	684.33	34	chr6	37390764	.	G	A	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.599;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	18	0	1	0
chr6	37450255	37450255	G	A	exonic	CMTR1	.	nonsynonymous SNV	CMTR1:NM_015050:exon5:c.G449A:p.S150N	.	432	1089	1	0	0	1	0.000458926	.	.	.	2471561	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00446622094609	.	.	9.899e-05	0	0	0	0	3e-05	0	0.0006	7.76e-05	12	154602	rs778269576	5.063e-05	5.062e-05	2.587e-05	7.564e-05	0.0007	4.126e-05	3.778e-05	0.0005	0.0005	0	0	0	0	0	0.0002	9.893e-06	6.624e-05	0.0007	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.263	0.16412	T	0.313	0.19539	T	0.002	0.09854	B	0.004	0.10090	B	0.000000	0.84330	N	0.115136	0.994352	0.42251	D	1.375	0.34280	L	.	.	.	-0.46	0.20145	N	0.19	0.20793	-1.0426	0.16532	T	0.073	0.29643	T	9	0.042013496	0.02910	T	0.004466	0.10937	T	0.116	0.32463	0.339	0.32979	0.179529687257	0.17594	0.6047087215514183	0.60401	0.750607852197	0.63758	0.506027936935	0.39668	T	0.028418	0.20589	T	-0.509231	0.00507	T	-0.589757	0.13687	T	0.0577353090047836	0.06807	T	0.794521	0.43681	T	0.17480616	0.38305	0.09381339	0.22177	0.17480616	0.38304	0.09381339	0.22176	-4.437	0.30055	T	.	.	0.103	0.18456	B	.;.	.;.	3.112753	0.41995	21.5	0.9533883718051005	0.26708	0.93140	0.57430	D	AEFDBHCI	0.371754	0.45765	N	-0.14173690316745	0.35588	2.046	0.0274599813107654	0.40995	2.455551	0.967790238887624	0.29003	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	3.393000	0.52286	10.002000	0.83047	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0815:0.1533:0.7652:0.0	8.588	0.32832	528	0.73785	RrmJ-type ribose 2-O-methyltransferase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1137.33	33	chr6	37450255	.	G	A	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.259;DP=719;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.839;SOR=0.829	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr6	37652325	37652325	G	A	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon7:c.C998T:p.T333I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0201565250533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.39097	T	0.11	0.38450	T	1.0	0.90584	D	0.975	0.73362	D	0.000083	0.51296	D	0.000000	0.999991	0.58761	D	1.935	0.51832	L	0.38	0.57575	T	-2.13	0.48523	N	0.771	0.80083	-0.9430	0.42137	T	0.161	0.49581	T	10	0.5342071	0.63355	D	0.020157	0.42696	T	0.246	0.55340	0.382	0.39970	0.669548379499	0.66676	0.6596516512172644	0.65902	1.83845651168	0.92141	0.784700512886	0.79639	T	0.197394	0.55405	T	0.128508	0.67214	D	-0.0531832	0.66804	D	0.981534600257874	0.73967	D	0.919408	0.71037	D	0.15500727	0.35054	0.18918957	0.42252	0.15500727	0.35054	0.18918957	0.42251	-7.335	0.56444	T	.	.	0.801	0.77310	P	.;.;.	.;.;.	5.397003	0.90395	31	0.99876069276333057	0.95328	0.99476	0.96499	D	AEFDGBI	0.826753	0.74617	D	0.540074929910732	0.69479	5.362834	0.574955574340429	0.73149	5.923553	0.999999999999077	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.33	5.33	0.75683	5.270000	0.65359	11.919000	0.99774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	18.011	0.89146	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1225.33	109	chr6	37652325	.	G	A	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.705;DP=994;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.85;SOR=0.78	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr6	38597958	38597958	C	T	exonic	BTBD9	.	nonsynonymous SNV	BTBD9:NM_001099272:exon2:c.G137A:p.R46H,BTBD9:NM_052893:exon3:c.G137A:p.R46H	.	.	.	.	.	.	.	.	.	.	.	4097943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0212797412192	.	.	8.287e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs760705861	5.473e-06	5.472e-06	4.084e-06	6.877e-06	5.396e-06	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	3.826e-05	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.111	0.37173	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	1	0.81001	D	1.96	0.53105	M	-0.36	0.68754	T	-2.92	0.68056	D	0.458	0.49511	-0.2608	0.76066	T	0.374	0.73250	T	9	0.5093548	0.62006	D	0.02128	0.44024	T	0.340	0.66202	0.509	0.60540	0.812243866623	0.81048	0.5591713946529773	0.55844	0.412650264091	0.42000	0.736166119576	0.72408	T	0.569315	0.85713	D	-0.0105432	0.50191	T	-0.252921	0.49529	T	0.95407772064209	0.64177	D	0.923208	0.76563	D	0.12262524	0.28811	0.16487984	0.38171	0.12262524	0.28810	0.16487984	0.38171	-8.435	0.63997	D	.	.	0.135	0.29450	B	.;.;.;.	.;.;.;.	3.981322	0.58534	24.0	0.99954542050378248	0.99969	0.96865	0.71360	D	AEFI	0.620998	0.60585	D	0.614514934044772	0.74091	6.074306	0.571614946991239	0.72914	5.885409	0.998589625138274	0.37247	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.36	4.48	0.53973	4.445000	0.59749	5.936000	0.51400	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.929:0.0:0.071	14.786	0.69430	711	0.56613	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	33	chr6	38597958	.	C	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.122;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr6	38737092	38737092	C	A	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon5:c.C137A:p.A46E,DNAH8:NM_001206927:exon6:c.C788A:p.A263E	.	433	1088	1	0	0	1	0.000459348	.	.	.	395277	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.235	0.0178620157948	.	0.000798722	0.0006	0	0	0.0069	0	6.009e-05	0.0011	0.0002	0.0005045	78	154602	rs145115573	0.0003	0.0003	0.0003	0.0003	0.0086	0.0003	0.0002	0.0078	0.0075	0	0	0	0.0086	0	0.0002	1.372e-05	0.0003	0.0005	0.0003	0.0003	0.0002	0.0004	0.0073	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0.0073	0	0	2.941e-05	0	0.0008	0.117	0.28271	T	.	.	.	0.838	0.46404	P	0.545	0.49043	P	0.000001	0.84330	D	0.000000	0.99804	0.44449	D	2.155	0.60227	M	1.57	0.29342	T	-2.92	0.61129	D	0.75	0.78167	-1.1038	0.03661	T	0.044	0.19111	T	10	0.023275465	0.00604	T	0.017862	0.39721	T	0.235	0.53788	.	.	0.82547625988	0.82382	0.7631398046710963	0.76261	0.270684308587	0.29596	0.497535169125	0.38485	T	0.065762	0.34312	T	-0.304488	0.08243	T	-0.204743	0.54198	T	0.108728255148306	0.13292	T	0.847215	0.52823	T	0.35529655	0.57476	0.3584101	0.61318	0.31372967	0.54106	0.34197113	0.59929	-3.069	0.10943	T	.	.	0.942	0.86137	P	.;.;.	.;.;.	1.796548	0.22833	15.78	0.98919149188317268	0.48527	0.91065	0.52791	D	AEFBI	0.217943	0.34301	N	0.224119867969692	0.52370	3.411607	0.224563004348135	0.51215	3.305867	8.68807229963465E-4	0.07931	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.901000	0.39469	1.073000	0.23822	0.545000	0.25583	0.936000	0.32490	0.527000	0.25341	0.906000	0.44173	0.0:0.7772:0.1445:0.0782	9.205	0.36446	623	0.65786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1065.33	34	chr6	38737092	.	C	A	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=720;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.133;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr6	38834592	38834592	T	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon31:c.T3665G:p.V1222G,DNAH8:NM_001206927:exon32:c.T4316G:p.V1439G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.041548279645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199675909	4.136e-06	4.104e-06	6.858e-06	1.386e-06	0.0002	1.49e-06	9.8e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.519e-06	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	.	.	.	0.97	0.56973	D	0.735	0.55480	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.65	0.27650	T	-4.11	0.75854	D	0.583	0.63628	-1.0036	0.28874	T	0.090	0.34683	T	10	0.68702245	0.71624	D	0.041548	0.59986	D	0.275	0.59130	0.503	0.59615	0.843515243164	0.84202	0.766198406509535	0.76568	0.463922996623	0.45880	0.622367680073	0.56063	T	0.070193	0.33899	T	0.160206	0.70219	D	-0.007652	0.69838	D	0.99225789308548	0.82690	D	0.342666	0.07446	T	0.7988065	0.83829	0.77735406	0.86867	0.7988065	0.83831	0.77735406	0.86868	-10.817	0.78645	D	.	.	0.326	0.57963	B	.;.;.	.;.;.	3.317374	0.45614	22.2	0.99558055602525553	0.71583	0.97861	0.77680	D	AEFBI	0.798812	0.72525	D	0.61815735084733	0.74324	6.113213	0.617689544321263	0.76225	6.451783	0.757715370178817	0.23460	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.68	5.68	0.88021	5.699000	0.67967	7.728000	0.67649	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.939	0.79527	442	0.79946	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1095.33	33	chr6	38834592	.	T	G	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=726;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.154;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	18	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D,DNAH8:NM_001206927:exon36:c.G4908T:p.E1636D	.	437	1043	40	2	0	44	0.0206573	.	.	YES	239918	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014602	0.020202	0.009511	0.017544	0.050000	0.008621	0.024390	0.018939	0.02632	1141.33	33	chr6	38845636	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=767;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-1.319;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr6	38862329	38862329	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon43:c.C5530T:p.P1844S,DNAH8:NM_001206927:exon44:c.C6181T:p.P2061S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.0931048064717	.	.	9.067e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs759134218	8.551e-05	8.551e-05	8.304e-05	8.801e-05	0.0001	7.312e-05	6.816e-05	9.204e-05	8.612e-05	0	0	0	0	0	0	0.0001	8.279e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.895	0.96086	H	2.43	0.15261	T	-7.53	0.95131	D	0.753	0.78262	-0.5452	0.66967	T	0.185	0.53436	T	10	0.8317863	0.82340	D	0.093105	0.76013	D	0.552	0.81485	.	.	0.872021058145	0.87077	0.7842831624343366	0.78379	0.581083206835	0.53926	0.788076579571	0.80150	T	0.444693	0.78800	T	0.0777705	0.61778	D	0.110604	0.77613	D	0.998340606689453	0.93889	D	0.982402	0.94055	D	0.73400843	0.79951	0.87295955	0.93071	0.73400843	0.79952	0.87295955	0.93071	-9.524	0.71008	D	.	.	0.984	0.91996	P	.;.;.	.;.;.	3.990127	0.58720	24.0	0.99920837388199346	0.98721	0.99295	0.94095	D	AEFDBIJ	0.826034	0.74560	D	0.992384653085468	0.95506	13.68475	0.924058004596086	0.96538	14.82058	0.999999999999161	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	5.973000	0.70153	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:1.0:0.0:0.0	20.595	0.99442	563	0.71062	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	33	chr6	38862329	.	C	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=689;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.622;SOR=1.119	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1408	18	0	1	0
chr6	39030343	39030343	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon92:c.C13424T:p.P4475L,DNAH8:NM_001206927:exon93:c.C14075T:p.P4692L	.	.	.	.	.	.	.	.	.	.	.	455633	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.441	0.0318432387324	7.7e-05	0.00119808	0.0005	0	8.637e-05	0.0065	0	0	0	6.063e-05	0.0005175	80	154602	rs147878071	0.0003	0.0003	0.0003	0.0003	0.0073	0.0002	0.0002	0.0066	0.0063	0.0001	4.472e-05	0	0.0073	0	0	1.349e-05	0.0012	0.0001	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	9.626e-05	0	0.0003	0	0.0066	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	3.06	0.08634	T	-9.0	0.98093	D	0.732	0.77978	-0.9099	0.46867	T	0.085	0.33014	T	10	0.014561981	0.00306	T	0.031843	0.53829	D	0.441	0.74447	.	.	0.836921927796	0.83536	0.7395416223044268	0.73899	0.578397025268	0.53743	0.799029886723	0.81815	T	0.174983	0.52441	T	-0.232621	0.16304	T	-0.102635	0.63194	T	0.25485880349498	0.23089	T	0.985721	0.95129	D	0.89065325	0.90564	0.8443094	0.91124	0.8889829	0.90421	0.8721935	0.93018	-6.789	0.52477	T	.	.	0.604	0.69045	P	.;.	.;.	3.773837	0.54225	23.5	0.99888668426480343	0.96359	0.93882	0.59464	D	AEFGBCI	0.930815	0.91870	D	0.940839733001316	0.93612	12.15589	0.863904679777377	0.93800	12.29009	0.999999999661784	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	7.639000	0.82491	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.642	0.91356	756	0.51065	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1630.33	35	chr6	39030343	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=773;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.406;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr6	39105500	39105500	T	A	exonic	SAYSD1	.	nonsynonymous SNV	SAYSD1:NM_018322:exon2:c.A484T:p.I162F,SAYSD1:NM_001304793:exon3:c.A283T:p.I95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0696019604901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	0.997	0.70673	D	0.959	0.70163	D	0.000544	0.43413	D	0.238252	0.999999	0.58761	D	2.545	0.74286	M	.	.	.	-3.73	0.70920	D	0.587	0.60749	-0.1942	0.77821	T	0.361	0.72262	T	9	0.5287674	0.63062	D	0.069602	0.70774	D	0.428	0.73517	0.592	0.72123	0.15556083564	0.15200	0.8351786060479685	0.83477	0.680174251335	0.59975	0.614329755306	0.54927	T	0.356184	0.72307	T	0.16969	0.71095	D	0.00597185	0.70722	D	0.982758700847626	0.74683	D	0.907809	0.67374	D	0.30991045	0.53779	0.30575562	0.56602	0.30991045	0.53779	0.30575562	0.56601	-10.542	0.77088	D	.	.	0.642	0.70601	P	.;.	.;.	4.681458	0.74923	26.2	0.98889932778571765	0.47984	0.89290	0.49665	D	AEFBI	0.318026	0.42185	N	0.667254711014013	0.77488	6.684632	0.62034944974514	0.76421	6.48756	0.126268266101618	0.16996	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.08	4.89	0.63387	4.353000	0.59187	6.108000	0.53630	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1266:0.0:0.0:0.8734	12.360	0.54526	840	0.37365	.;Uncharacterised domain SAYSvFN	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2444.33	33	chr6	39105500	.	T	A	2444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=781;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.124;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr6	39315303	39315303	A	G	exonic	KCNK16	.	nonsynonymous SNV	KCNK16:NM_001135105:exon5:c.T790C:p.W264R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00736829708484	0.0039	0.000199681	0.0030	0.0007	0	0	0.0011	0.0060	0.0036	0	0.0020504	317	154602	rs202095357	0.0042	0.0042	0.0043	0.0042	0.0051	0.0042	0.0041	0.0050	0.0050	0.0003	0.0005	0.0021	0	0.0023	0	0.0051	0.0041	0	0.0028	0.0028	0.0030	0.0025	0.0055	0.0026	0.0025	0.0050	0.0048	0.0006	0	0.0007	0.0012	0	0.0011	0	0.0055	0.0014	0	0.001	0.78490	D	0.002	0.79402	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	-0.67	0.19297	N	0.21	0.23380	-0.9509	0.40816	T	0.012	0.04653	T	8	0.004871875	0.00104	T	0.007368	0.19550	T	0.006	0.00375	0.425	0.47021	0.274366138417	0.27033	0.8966464170949435	0.89635	0.853889919278	0.68674	.	.	.	.	.	.	-0.722548	0.00027	T	-0.80568	0.01765	T	0.0225582877204872	0.00972	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	-2.455	0.05481	T	.	.	0.310	0.53793	B	.	.	-0.758765	0.01191	0.058	0.71955935277537952	0.09806	0.00585	0.02632	N	AEFDBI	0.042988	0.06739	N	-1.09212580709428	0.06787	0.3134607	-1.21578376207007	0.05655	0.270091	0.934801658612868	0.27187	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.73	-1.25	0.08920	-2.113000	0.01418	-0.470000	0.08985	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.5955:0.0:0.1824:0.2221	2.670	0.04751	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001024	0.005155	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2586.33	38	chr6	39315303	.	A	G	2586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1358;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=1.68;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	18	0	1	0
chr6	39360510	39360510	C	T	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon5:c.G320A:p.R107H,KIF6:NM_001351566:exon5:c.G320A:p.R107H,KIF6:NM_001289020:exon17:c.G1916A:p.R639H,KIF6:NM_001289021:exon17:c.G1799A:p.R600H,KIF6:NM_145027:exon18:c.G1967A:p.R656H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00452617620925	7.7e-05	0.000199681	8.238e-05	0	0	0.0008	0	2.997e-05	0	6.057e-05	7.12e-05	11	154602	rs141566437	0.0001	0.0001	0.0001	0.0001	0.0041	0.0001	0.0001	0.0036	0.0034	2.987e-05	0	0.0001	0.0041	0	0	1.439e-05	6.623e-05	4.637e-05	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0	0.171	0.32141	T	0.216	0.37449	T	0.004	0.12183	B	0.005	0.11217	B	.	.	.	.	0.882674	0.28021	N	1.215	0.30540	L	0.97	0.42502	T	-2.13	0.58733	N	0.06	0.12198	-1.0170	0.24690	T	0.026	0.11309	T	9	0.03970653	0.02481	T	0.004526	0.11125	T	0.045	0.12272	.	.	0.372087925617	0.36815	0.16409342952823217	0.16329	0.0747485147847	0.08389	0.226579591632	0.01725	T	0.011276	0.10082	T	-0.528989	0.00389	T	-0.598753	0.12915	T	0.0648491250490725	0.07909	T	0.80392	0.53056	T	0.045611344	0.07495	0.090805925	0.21316	0.045611344	0.07494	0.090805925	0.21316	-8.452	0.64111	D	.	.	0.063	0.02829	B	.;.;.;.	.;.;.;.	1.386403	0.17983	13.48	0.97500386537806427	0.34293	0.50399	0.28654	D	AEFDBI	0.143427	0.26612	N	-0.732915386898148	0.15102	0.7581327	-0.676461037196016	0.17550	0.9336731	3.77095346589269E-4	0.06745	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	-0.875	0.10089	-0.127000	0.10524	-2.269000	0.03972	-0.182000	0.10109	0.576000	0.27554	0.000000	0.08366	0.987000	0.62547	0.0:0.6752:0.0:0.3248	10.489	0.43924	908	0.22609	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	797.33	37	chr6	39360510	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=695;ExcessHet=0;FS=1.953;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.525;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	18	0	1	0
chr6	39419978	39419978	C	G	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon2:c.G133C:p.E45Q,KIF6:NM_001351566:exon2:c.G133C:p.E45Q,KIF6:NM_001289021:exon14:c.G1612C:p.E538Q,KIF6:NM_001289020:exon15:c.G1780C:p.E594Q,KIF6:NM_145027:exon15:c.G1780C:p.E594Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00520028795805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.28772	T	0.439	0.30729	T	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	0.978106	0.39430	D	1.72	0.44442	L	1.16	0.38073	T	-0.92	0.34596	N	0.378	0.51226	-0.9877	0.33175	T	0.160	0.49380	T	9	0.24919984	0.42228	T	0.005	0.13248	T	0.065	0.18881	0.184	0.09259	0.474798811001	0.47109	0.16167391385716678	0.16088	0.197728138392	0.22142	0.570854783058	0.48799	T	0.005347	0.04800	T	-0.058054	0.43211	T	-0.321167	0.42448	T	0.9172043800354	0.57494	D	0.891911	0.62748	D	0.14851189	0.33901	0.13467592	0.32265	0.14851189	0.33901	0.13467592	0.32264	-6.548	0.50655	T	.	.	0.098	0.33133	B	.;.;.;.	.;.;.;.	3.143958	0.42536	21.6	0.9969609997769171	0.80316	0.87449	0.46992	D	AEFBI	0.569991	0.57455	D	0.264622244164058	0.54367	3.602337	0.365944376776792	0.59473	4.125556	0.99998398728663	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	3.309000	0.51613	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.471	0.67096	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	499.33	41	chr6	39419978	.	C	G	499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=663;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.391;SOR=0.313	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	18	0	1	0
chr6	39879422	39879422	G	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.G1790A:p.R597H,DAAM2:NM_015345:exon14:c.G1790A:p.R597H	.	424	1095	1	1	1	4	0.00136799	.	.	.	3190753	DAAM2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.081	0.0102626355573	.	0.00239617	0.0012	0.0001	0.0009	0.0078	0	0.0002	0.0011	0.0028	0.0010026	155	154602	rs181701991	0.0005	0.0005	0.0005	0.0006	0.0068	0.0005	0.0005	0.0061	0.0058	0.0001	0.0008	0	0.0068	0	0.0007	0.0002	0.0009	0.0020	0.0006	0.0006	0.0005	0.0006	0.0086	0.0005	0.0004	0.0066	0.0058	0.0001	0	0.0007	0	0.0086	0	0	0.0002	0	0.0027	0.136	0.27904	T	0.117	0.36365	T	0.999	0.77913	D	0.93	0.66466	D	0.206470	0.16470	N	0.620813	1	0.08975	N	0.345	0.11182	N	2.24	0.17923	T	-0.37	0.13226	N	0.047	0.01911	-1.0474	0.15130	T	0.023	0.09741	T	10	0.005448818	0.00120	T	0.010263	0.26588	T	0.081	0.23632	.	.	0.391826234366	0.38797	0.11908975775731323	0.11835	0.322070072884	0.34403	0.26938700676	0.06061	T	0.041428	0.25853	T	-0.70078	0.00036	T	-0.772434	0.02689	T	0.0327032007981698	0.02422	T	0.816118	0.47665	T	0.029877253	0.02556	0.034759685	0.02602	0.029877253	0.02556	0.034759685	0.02602	-2.989	0.10063	T	.	.	0.073	0.05845	B	.;.;.;.	.;.;.;.	3.911630	0.57044	23.8	0.9954846617320503	0.70961	0.44330	0.27294	N	AEFDBI	0.144315	0.26724	N	-0.306576392876232	0.28897	1.597817	-0.384883995339411	0.25447	1.39948	0.999959306363202	0.48110	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.15	-1.29	0.08805	1.335000	0.33444	2.404000	0.32608	-0.743000	0.03651	0.997000	0.40164	1.000000	0.68203	0.041000	0.14368	0.4393:0.2235:0.3372:0.0	6.643	0.22108	665	0.61472	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1262.33	35	chr6	39879422	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.825;DP=747;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.813;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr6	41033146	41033146	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon4:c.C687A:p.S229R	.	.	.	.	.	.	.	.	0.0002	0.206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	4.104e-06	1.363e-06	4.133e-06	1.162e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	1.66e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.9	0.49598	P	0.462	0.46509	P	0.000024	0.55875	D	0.000000	0.913981	0.36487	D	2.24	0.63355	M	2.29	0.17113	T	-2.36	0.52128	N	0.924	0.93018	-0.9835	0.34187	T	0.014	0.05657	T	10	0.84640175	0.83807	D	0.010059	0.26146	T	0.235	0.53788	0.739	0.87147	0.432826170204	0.42904	0.7541089806066102	0.75357	0.610670217774	0.55743	0.625477015972	0.56503	T	0.062728	0.31992	T	0.13815	0.68149	D	-0.0393341	0.67746	D	0.957344949245453	0.64987	D	0.736326	0.35288	T	0.43813124	0.63281	0.30036682	0.56070	0.43813124	0.63282	0.30036682	0.56069	-9.787	0.72626	D	.	.	0.991	0.94060	P	.;.	.;.	3.211949	0.43726	21.8	0.99714443515835816	0.81563	0.83488	0.42602	D	AEFDBI	0.226288	0.35026	N	-0.058569496336945	0.39219	2.309392	-0.0483572666063465	0.37562	2.200937	0.998355869229198	0.36814	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.43	0.307	0.15057	0.398000	0.20624	2.257000	0.31732	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.4848:0.0:0.5152:0.0	8.197	0.30563	452	0.79239	ZU5 domain;ZU5 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	901.33	35	chr6	41033146	.	G	T	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=723;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.525;SOR=1.161	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1283	18	0	1	0
chr6	41043636	41043636	G	C	exonic	TSPO2	.	nonsynonymous SNV	TSPO2:NM_001010873:exon3:c.G253C:p.V85L,TSPO2:NM_001159726:exon3:c.G253C:p.V85L	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00234297893453	0.0017	0.00179712	0.0020	0.0015	0.0027	0	0.0003	0.0021	0.0045	0.0033	0.0019922	308	154602	rs147485285	0.0023	0.0023	0.0023	0.0024	0.0038	0.0023	0.0023	0.0035	0.0033	0.0007	0.0025	0.0010	0	0.0002	0.0038	0.0025	0.0025	0.0038	0.0017	0.0017	0.0017	0.0018	0.0031	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0014	0.0006	0	0.0002	0.0102	0.0028	0.0014	0.0031	0.898	0.02436	T	0.703	0.05663	T	0.0	0.02946	B	0.001	0.04355	B	0.069162	0.02229	N	1.955430	1	0.08975	N	1.15	0.29295	L	1.03	0.40469	T	-0.85	0.23156	N	0.106	0.09772	-1.0850	0.06407	T	0.019	0.07893	T	10	0.0064745545	0.00147	T	0.002343	0.04535	T	0.090	0.26093	.	.	0.166414681773	0.16258	0.2332732126691424	0.23242	0.259490706141	0.28504	0.294637024403	0.09603	T	0.012599	0.11043	T	-0.644177	0.00079	T	-0.700828	0.05781	T	0.033278826624155	0.02518	T	0.523548	0.17131	T	0.0381984	0.05044	0.046442296	0.06473	0.0381984	0.05044	0.046442296	0.06473	-2.839	0.08548	T	.	.	0.109	0.25914	B	.;.	.;.	0.374296	0.07463	4.102	0.74768250829263816	0.10819	0.04048	0.09492	N	AEFDI	0.101413	0.20368	N	-1.37152377689438	0.02908	0.129119	-1.37605386298669	0.03509	0.1638203	0.999661792004702	0.41534	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.71	-3.3	0.04692	0.086000	0.14780	1.033000	0.23495	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.3381:0.2841:0.1921:0.1857	0.638	0.00754	469	0.78175	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	1095.33	42	chr6	41043636	.	G	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.694;DP=747;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.517;SOR=0.536	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr6	41061555	41061555	C	A	exonic	APOBEC2	.	nonsynonymous SNV	APOBEC2:NM_006789:exon2:c.C359A:p.T120N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0530840902267	0.0069	0.00219649	0.0050	0.0018	0.0022	0.0001	0.0020	0.0074	0.0044	0.0033	0.0051746	800	154602	rs41273362	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0013	0.0023	0.0097	2.519e-05	0.0014	0.0012	0.0096	0.0082	0.0032	0.0049	0.0049	0.0056	0.0042	0.0084	0.0046	0.0045	0.0079	0.0076	0.0017	0	0.0024	0.0066	0	0.0012	0	0.0084	0.0038	0.0054	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.605	0.93784	H	0.52	0.55266	T	-4.59	0.78891	D	0.912	0.91391	-0.1959	0.77777	T	0.371	0.73016	T	10	0.03181091	0.01321	T	0.053084	0.65328	D	0.565	0.82232	.	.	0.805687181342	0.80387	0.889782823350155	0.88948	0.389843987297	0.40208	0.674383044243	0.63464	T	0.427369	0.77687	T	-0.290434	0.09593	T	-0.18057	0.56472	T	0.0390108040909898	0.03513	T	0.908009	0.67517	D	0.9353074	0.94771	0.8438327	0.91092	0.9353074	0.94771	0.8438327	0.91092	-9.493	0.70815	D	.	.	0.634	0.70263	P	.	.	4.242199	0.64330	24.7	0.99447075209479496	0.65071	0.99494	0.96712	D	AEFBI	0.851594	0.76846	D	0.900666441432376	0.91791	11.06694	0.854515918504477	0.93278	11.93798	0.999999999999994	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.69	5.69	0.88346	5.806000	0.68817	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.793	0.91946	480	0.77422	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	rs41273362	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2211.33	34	chr6	41061555	.	C	A	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=1236;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=2.69;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1133	18	0	1	0
chr6	41150846	41150846	A	G	exonic	TREML1	.	nonsynonymous SNV	TREML1:NM_001271808:exon3:c.T208C:p.F70L,TREML1:NM_001271807:exon4:c.T541C:p.F181L,TREML1:NM_178174:exon4:c.T541C:p.F181L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00576364806359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.577	0.24955	T	0.518	0.13441	T	0.004	0.18885	B	0.009	0.18783	B	0.057896	0.22445	N	0.391386	0.819665	0.34757	D	0.855	0.21307	L	1.77	0.48769	T	-0.68	0.53258	N	0.172	0.19728	-1.0682	0.09813	T	0.030	0.12848	T	10	0.08703408	0.14853	T	0.005764	0.14952	T	0.009	0.00846	0.341	0.33302	0.398727352345	0.39489	0.1894484929296617	0.18862	0.0680759038335	0.07622	0.382166862488	0.22563	T	0.072361	0.34435	T	-0.214005	0.18820	T	-0.54518	0.17792	T	0.115793205797672	0.14014	T	0.611339	0.23205	T	0.05493995	0.10612	0.046757307	0.06587	0.05493995	0.10611	0.046757307	0.06587	-0.335	0.01041	T	.	.	0.533	0.72935	A	.;.;.	.;.;.	0.953772	0.13303	9.802	0.88638349486463874	0.18135	0.13617	0.17957	N	AEFDBHCIJ	0.100838	0.20267	N	-0.64920894000678	0.17483	0.9000489	-0.533847356678839	0.21236	1.147861	0.994465769071626	0.33649	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.38	2.93	0.33092	0.052000	0.14046	0.837000	0.22005	0.756000	0.94297	0.033000	0.20612	0.014000	0.20376	0.992000	0.67800	0.7295:0.1784:0.0921:0.0	5.336	0.15263	643	0.63827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1322.33	33	chr6	41150846	.	A	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.989;DP=774;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.522;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1362	18	0	1	0
chr6	41158881	41158881	G	A	exonic	TREM2	.	nonsynonymous SNV	TREM2:NM_018965:exon4:c.C668T:p.T223I	Nasu-Hakola disease, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	722029	not_provided|Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2|TREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00261150228949	0.0005	0.00139776	0.0009	0	0.0010	0	0	0.0004	0	0.0045	0.0007891	122	154602	rs138355759	0.0006	0.0006	0.0004	0.0008	0.0044	0.0006	0.0006	0.0041	0.0039	2.987e-05	0.0005	0.0004	2.519e-05	3.744e-05	0.0016	0.0004	0.0006	0.0044	0.0005	0.0005	0.0003	0.0006	0.0064	0.0004	0.0003	0.0046	0.0040	2.405e-05	0	0	0.0003	0	0	0	0.0005	0.0014	0.0064	0.364	0.11770	T	0.268	0.22494	T	0.005	0.12996	B	0.004	0.10090	B	0.244508	0.03605	N	1.513640	1	0.08975	N	1.405	0.35469	L	1.11	0.38883	T	-2.17	0.49018	N	0.05	0.02179	-1.0757	0.08205	T	0.029	0.12365	T	10	0.0056200624	0.00125	T	0.002612	0.05292	T	0.041	0.10877	.	.	0.12205267543	0.11705	0.48500474811497263	0.48420	0.160309896922	0.18085	0.402808666229	0.25460	T	0.13049	0.45941	T	-0.615168	0.00118	T	-0.656156	0.08528	T	0.0205872413831608	0.00758	T	0.659534	0.26859	T	0.025529774	0.01501	0.044397697	0.05743	0.02775539	0.02012	0.05280459	0.08771	-4.299	0.28163	T	.	.	0.110	0.21049	B	.	.	1.082052	0.14654	11.21	0.68599359743891264	0.08708	0.04478	0.10091	N	AEFDBI	0.058928	0.11091	N	-1.18949030238923	0.05158	0.2344878	-1.20375111954558	0.05849	0.2798811	0.955505922832804	0.28193	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.92	0.957	0.18736	0.753000	0.26042	2.700000	0.34154	-0.785000	0.03297	0.201000	0.24320	0.130000	0.22991	0.294000	0.24357	0.1929:0.1682:0.4654:0.1735	1.477	0.02281	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1907.33	36	chr6	41158881	.	G	A	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=776;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.798;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1362	18	0	1	0
chr6	41228834	41228834	C	T	exonic	TREML4	.	nonsynonymous SNV	TREML4:NM_198153:exon2:c.C184T:p.R62W	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0191583809234	.	0.000599042	0.0005	0	8.637e-05	0	0	7.493e-05	0	0.0033	0.0004269	66	154602	rs200638061	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	6.708e-05	0.0003	0	0	0.0023	3.237e-05	0.0004	0.0030	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.235e-05	0.0018	0.0014	0	0	6.533e-05	0.0003	0	0	0	0.0001	0.0005	0.0029	0.039	0.42487	D	0.059	0.45961	T	0.169	0.28678	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	2.715	0.79425	M	-0.19	0.65931	T	-2.32	0.51478	N	0.081	0.05799	-1.0807	0.07214	T	0.065	0.26948	T	9	0.010712922	0.00237	T	0.019158	0.41446	T	0.125	0.34456	.	.	0.0482279557977	0.04254	0.20330204343147407	0.20247	0.0322088536778	0.03353	0.185254722834	0.00152	T	0.016713	0.13762	T	-0.542186	0.00325	T	-0.555892	0.16765	T	0.0276946511148524	0.01644	T	0.349165	0.07749	T	0.040865477	0.05912	0.050622743	0.07982	0.040865477	0.05912	0.050622743	0.07981	-4.719	0.33634	T	.	.	0.126	0.26825	B	.;.	.;.	-1.411991	0.00352	0.006	0.75796612860227541	0.11214	0.01918	0.05863	N	ALL	0.035849	0.04681	N	-1.92640391321009	0.00303	0.01300183	-2.09913866290265	0.00187	0.00824067	0.999999999997308	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	4.35	-8.7	0.00738	-2.214000	0.01307	-14.148000	0.00419	-3.462000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1329:0.4011:0.1694:0.2967	2.413	0.04159	911	0.21964	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2109.83	40	chr6	41228834	.	C	T	2109.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.397;DP=863;ExcessHet=0.119;FS=1.266;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.349;SOR=0.559	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1339	17	0	2	0
chr6	41282505	41282505	C	T	exonic	TREM1	.	nonsynonymous SNV	TREM1:NM_001242589:exon2:c.G296A:p.R99Q,TREM1:NM_001242590:exon2:c.G296A:p.R99Q,TREM1:NM_018643:exon2:c.G296A:p.R99Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00343310702594	.	.	8.243e-06	0	8.657e-05	0	0	0	0	0	6.5e-06	1	154602	rs752468178	2.189e-05	2.189e-05	1.77e-05	2.613e-05	5.797e-05	1.584e-05	1.356e-05	2.194e-05	1.43e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.068e-05	0	5.797e-05	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	1.0	0.02613	T	0.842	0.03589	T	0.023	0.21357	B	0.005	0.11217	B	0.859765	0.07109	N	1.088660	1	0.08975	N	-0.525	0.02545	N	-0.15	0.65192	T	0.04	0.06488	N	0.087	0.06454	-0.9778	0.35503	T	0.029	0.12365	T	10	0.06318608	0.08194	T	0.003433	0.07725	T	0.093	0.26882	0.573	0.69695	0.0401082797425	0.02173	0.2582845785924367	0.25742	0.120092207634	0.13526	0.191363751888	0.00250	T	0.067622	0.33250	T	-0.436828	0.01350	T	-0.683721	0.06759	T	0.0428376022973071	0.04207	T	0.714629	0.33277	T	0.19559464	0.41354	0.12976319	0.31194	0.19559464	0.41354	0.12976319	0.31194	-6.438	0.51448	T	.	.	0.077	0.07036	B	.;.;.;.	.;.;.;.	-2.235980	0.00059	0.001	0.37406905982666189	0.02463	0.00099	0.00643	N	AEFDBI	0.024840	0.01602	N	-2.03778886370417	0.00175	0.007510185	-2.12345069188203	0.00165	0.007278979	0.999999999871542	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.37	-8.74	0.00725	-4.203000	0.00312	-15.256000	0.00365	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6661:0.1876:0.1463	12.636	0.56043	929	0.16858	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3448.33	39	chr6	41282505	.	C	T	3448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=907;ExcessHet=0;FS=1.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.796;SOR=0.589	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1401	18	0	1	0
chr6	41350847	41350847	G	C	exonic	NCR2	.	nonsynonymous SNV	NCR2:NM_004828:exon5:c.G814C:p.D272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00257465414412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.081	0.41742	T	0.868	0.47740	P	0.306	0.41250	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.23	0.18083	T	-0.62	0.18248	N	0.148	0.15046	-1.0014	0.29516	T	0.007	0.02360	T	9	0.09670922	0.17367	T	0.002575	0.05178	T	0.099	0.28413	0.137	0.04097	0.181679512989	0.17746	0.11556526805194643	0.11484	0.502914411381	0.48640	0.252982318401	0.04088	T	0.051616	0.28930	T	-0.338051	0.05524	T	-0.723364	0.04634	T	0.208211634991519	0.20859	T	0.373163	0.08852	T	0.055380765	0.10755	0.050042417	0.07771	0.055380765	0.10755	0.050042417	0.07771	-4.137	0.25833	T	.	.	0.089	0.11989	B	.	.	-0.265248	0.02772	0.375	0.87212729061448258	0.17067	0.00460	0.02218	N	AEFBI	0.032044	0.03545	N	-1.0643477518235	0.07309	0.3391334	-1.26526711059812	0.04909	0.2326728	0.0558052734814749	0.15031	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.47	-3.08	0.05022	-1.059000	0.03589	0.139000	0.15146	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2818:0.2096:0.3025:0.2061	0.416	0.00418	951	0.11083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	168	chr6	41350847	.	G	C	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=901;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.727;SOR=0.68	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	41684900	41684900	G	A	exonic	TFEB	.	nonsynonymous SNV	TFEB:NM_001271943:exon8:c.C875T:p.P292L,TFEB:NM_001167827:exon9:c.C1172T:p.P391L,TFEB:NM_001271944:exon9:c.C1130T:p.P377L,TFEB:NM_001271945:exon9:c.C1130T:p.P377L,TFEB:NM_007162:exon10:c.C1130T:p.P377L	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0793115396131	.	0.000199681	5.763e-05	0.0002	0	0	0	7.376e-05	0	0	3.88e-05	6	154602	rs371923346	5.996e-05	7.115e-05	6.695e-05	5.28e-05	0.0002	4.959e-05	4.569e-05	5.919e-05	5.478e-05	6.161e-05	0	0	0	0	0.0002	7.254e-05	5.139e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.193	0.37966	T	0.069	0.61642	T	0.679	0.44809	P	0.2	0.36839	B	0.000057	0.53742	D	0.128676	1	0.81001	D	1.83	0.48079	L	-0.08	0.63911	T	-1.67	0.41239	N	0.207	0.22998	-0.8175	0.54090	T	0.114	0.40672	T	10	0.123684466	0.23482	T	0.079312	0.73205	D	0.127	0.34888	0.375	0.38830	0.179529687257	0.17594	0.49024928133790996	0.48944	0.4724646507	0.46487	0.509842455387	0.40201	T	0.479008	0.87557	T	-0.0329543	0.46987	T	-0.285113	0.46279	T	0.079228431822615	0.09888	T	0.869413	0.57379	D	0.08792683	0.20493	0.0942844	0.22311	0.08792683	0.20492	0.0942844	0.22311	-4.909	0.35836	T	.	.	0.081	0.08320	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.056251	0.60165	24.2	0.98931035480202534	0.48750	0.84564	0.43647	D	AEFDBCI	0.382533	0.46438	N	0.051568388153863	0.44213	2.699624	0.0773337441939429	0.43410	2.643401	0.999985296518662	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.95	4.02	0.45968	1.073000	0.30302	7.507000	0.59567	0.676000	0.76740	0.883000	0.31049	1.000000	0.68203	0.424000	0.27317	0.0:0.1485:0.8515:0.0	14.419	0.66745	864	0.32732	MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;MiT/TFE transcription factors, C-terminal;.;MiT/TFE transcription factors, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	677.33	46	chr6	41684900	.	G	A	677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=753;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.031;SOR=0.779	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008586	0.000000	0.004087	0.005848	0.000000	0.034483	0.009202	0.015267	0.02632	1205.33	34	chr6	41736997	.	C	A	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=739;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.403;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1272	18	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2106.33	33	chr6	41740500	.	C	T	2106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=868;ExcessHet=0;FS=3.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.749;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1281	18	0	1	0
chr6	41786275	41786275	C	G	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon7:c.C730G:p.R244G	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	.	0.0009	0.00139776	0.0021	0.0005	0.0007	0.0001	0.0002	0.0011	0.0151	0.0105	0.0017852	276	154602	rs141478229	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0	0.0016	3.776e-05	0.0042	0.0008	0.0015	0.0087	0.0008	0.0008	0.0007	0.0010	0.0072	0.0007	0.0007	0.0054	0.0047	0.0002	0	0.0007	0	0.0004	0	0.0034	0.0009	0.0024	0.0072	0.054	0.38633	T	0.073	0.92824	T	0.98	0.59353	D	0.851	0.60700	P	0.000157	0.49130	D	0.000000	0.997875	0.45339	D	2.95	0.84923	M	-2.33	0.87910	D	-3.78	0.73151	D	0.433	0.49602	0.177	0.85527	D	0.654	0.87943	D	10	0.010054141	0.00225	T	.	.	.	0.623	0.85406	.	.	0.846421303689	0.84494	0.7528875862469561	0.75235	1.28768444248	0.82705	0.457758158445	0.33003	T	0.478297	0.80817	T	-0.143665	0.29307	T	0.0275391	0.72118	D	0.041502370032788	0.03963	T	0.808019	0.46271	T	0.25619984	0.48658	0.21566667	0.46164	0.25619984	0.48658	0.21566667	0.46163	-9.845	0.75218	D	.	.	0.275	0.51959	B	.;.;.;.;.	.;.;.;.;.	4.105868	0.61261	24.3	0.99742598182372644	0.83629	0.97948	0.78351	D	AEFDGBCIJ	0.908582	0.86407	D	0.487249171461984	0.66346	4.938092	0.420087740558971	0.62819	4.503771	0.99999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.81	4.81	0.61401	5.834000	0.69064	4.546000	0.43784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	14.908	0.70381	455	0.79073	.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1664.33	33	chr6	41786275	.	C	G	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=785;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.06;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	18	0	1	0
chr6	41921815	41921815	C	T	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon1:c.C253T:p.R85C	.	430	1064	25	3	0	31	0.0143585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0012	0.000998403	0.0033	0.0004	0.0006	0	0.0022	0.0021	0.0040	0.0134	0.0024515	379	154602	rs142676892	0.0023	0.0023	0.0019	0.0027	0.0119	0.0022	0.0022	0.0113	0.0110	0.0001	0.0008	0.0118	0.0001	0.0027	0.0051	0.0015	0.0025	0.0119	0.0016	0.0016	0.0014	0.0017	0.0094	0.0014	0.0013	0.0072	0.0064	0.0002	0	0.0009	0.0104	0	0.0018	0	0.0017	0.0005	0.0094	0.046	0.40573	D	0.162	0.31225	T	0.991	0.64070	D	0.17	0.35299	B	0.000012	0.62929	D	0.110760	0.999994	0.58761	D	1.355	0.33814	L	1.98	0.21865	T	-2.58	0.55662	D	0.282	0.31925	-1.0802	0.07310	T	0.021	0.08732	T	10	0.0051758587	0.00112	T	.	.	.	0.099	0.28413	.	.	0.567785321435	0.56442	0.24298961391334983	0.24212	0.704673459605	0.61344	0.429955482483	0.29202	T	0.254659	0.62534	T	-0.464834	0.00916	T	-0.43009	0.29925	T	0.0379310003893595	0.03320	T	0.868713	0.57175	D	0.20771629	0.42986	0.23594417	0.48851	0.20771629	0.42986	0.23594417	0.48850	-7.096	0.54732	T	.	.	0.160	0.35267	B	.	.	4.243020	0.64342	24.7	0.99914926308566154	0.98309	0.82492	0.41712	D	ALL	0.301666	0.41012	N	0.307123208435791	0.56515	3.81619	0.365717407789206	0.59460	4.124023	0.999999999999734	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.11	5.11	0.69188	1.697000	0.37402	4.849000	0.45357	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.921000	0.45669	0.1855:0.8145:0.0:0.0	11.018	0.46917	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003074	0.000000	0.001359	0.000000	0.000000	0.017241	0.003086	0.011450	0.02632	639.33	21	chr6	41921815	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.741;DP=570;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-1.039;SOR=0.458	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,602	18	0	1	0
chr6	42107169	42107169	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G743A:p.R248H	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00675561262423	.	.	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs755603011	0.0010	0.0009	0.0010	0.0010	0.0019	0.0010	0.0010	0.0011	0.0011	0.0001	0.0009	0.0004	0	6.553e-05	0.0019	0.0012	0.0007	0.0004	0.0008	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0012	0.0006	0.0002	0.0001	0.0035	0.0012	0.0030	0.0005	0.136	0.26085	T	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.315	0.10303	N	0.76	0.49919	T	-1.33	0.33197	N	0.032	0.00825	-1.0048	0.28517	T	0.019	0.08079	T	7	0.016800225	0.00356	T	0.006756	0.17840	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06859667622863035	0.06797	.	.	.	.	.	0.050921	0.28731	T	-0.603568	0.00139	T	-0.669839	0.07618	T	0.00702890987105475	0.00080	T	0.384162	0.09403	T	0.024674643	0.01323	0.030097902	0.01424	0.024674643	0.01323	0.030097902	0.01424	-5.106	0.37971	T	.	.	0.079	0.07272	B	.	.	-0.759526	0.01189	0.058	0.65139694243992496	0.07689	0.00628	0.02764	N	AEFDBI	0.037416	0.05142	N	-1.33381318416161	0.03296	0.1469735	-1.54067789956866	0.02040	0.09328102	0.999969972087992	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.54	-7.09	0.01399	-1.656000	0.02083	-11.991000	0.00559	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1311:0.3209:0.0:0.548	5.999	0.18740	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001980	0.000000	0.000000	0.008264	0.000000	0.000000	0.000000	0.000000	0.02632	812.33	38	chr6	42107169	.	C	T	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=706;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.53;SOR=0.379	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1056	18	0	1	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012121	0.005435	0.019231	0.012605	0.000000	0.000000	0.015306	0.026786	0.07895	3818.77	33	chr6	42142395	.	T	C	3818.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.757;DP=792;ExcessHet=0;FS=1.98;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.48;ReadPosRankSum=0.373;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	17	1	1	0
chr6	42268582	42268582	G	C	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.C1009G:p.Q337E,TRERF1:NM_033502:exon5:c.C1009G:p.Q337E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00345834549751	.	0.000199681	0.0002	0	8.637e-05	0	0	0	0.0011	0.0013	0.0001617	25	154602	rs572408738	0.0001	0.0001	7.896e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	5.974e-05	0	0	0	0	0.0002	1.799e-06	0.0002	0.0019	7.223e-05	7.218e-05	0	0.0001	0.0023	3.969e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.003	0.68238	D	0.008	0.76473	D	0.084	0.27347	B	0.034	0.28220	B	0.048369	0.23258	N	0.308551	0.623724	0.33285	D	1.795	0.47270	L	2.58	0.16351	T	-0.92	0.32791	N	0.279	0.42931	-1.0610	0.11508	T	0.018	0.07282	T	10	0.013855368	0.00293	T	0.003458	0.07817	T	0.027	0.05988	0.154	0.05752	0.281547015583	0.27767	0.2998410987875348	0.29897	0.153881245274	0.17371	0.367941081524	0.20536	T	0.017355	0.25546	T	-0.451143	0.01112	T	-0.428076	0.30153	T	0.0948296440150792	0.11778	T	0.848415	0.53103	T	0.2119293	0.43531	0.23710631	0.48999	0.2119293	0.43531	0.23710631	0.48998	-5.826	0.45444	T	.	.	0.128	0.32202	B	.;.;.;.;.	.;.;.;.;.	3.202056	0.43554	21.8	0.98031465382875693	0.37712	0.98706	0.85820	D	AEFDBI	0.708835	0.66312	D	-0.0495846156719222	0.39622	2.339472	0.131019126048943	0.46143	2.865254	0.999998859181995	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.79	4.89	0.63387	6.332000	0.72889	8.457000	0.77235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.1328:0.8672:0.0	16.289	0.82565	874	0.30607	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1960.33	35	chr6	42268582	.	G	C	1960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.125;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=-0.86;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	18	0	1	0
chr6	42676170	42676170	A	G	exonic	UBR2	.	nonsynonymous SNV	UBR2:NM_001363705:exon39:c.A4366G:p.I1456V,UBR2:NM_015255:exon39:c.A4366G:p.I1456V	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0002	0.00479233	0.0026	0.0003	0.0002	0	0	0	0.0011	0.0191	0.0022186	343	154602	rs138783967	0.0011	0.0011	0.0006	0.0015	0.0172	0.0010	0.0010	0.0164	0.0161	0.0002	0.0001	0	2.536e-05	0	0.0002	7.199e-06	0.0009	0.0172	0.0008	0.0008	0.0004	0.0011	0.0189	0.0006	0.0006	0.0157	0.0146	0.0005	0	0.0001	0	0	0	0	0	0.0005	0.0189	0.079	0.33753	T	0.182	0.30143	T	0.014	0.25247	B	0.023	0.34106	B	0.000004	0.62929	D	0.102091	0.999822	0.81001	D	1.445	0.36358	L	0.56	0.54540	T	-0.46	0.14978	N	0.26	0.29429	-1.0677	0.09926	T	0.070	0.28740	T	10	0.0068107843	0.00155	T	.	.	.	0.115	0.32236	.	.	0.0675242888579	0.06100	0.12486470991467384	0.12412	0.339876716782	0.35937	0.600550293922	0.52982	T	0.178575	0.52927	T	-0.524214	0.00416	T	-0.510837	0.21230	T	0.0350808857572868	0.02822	T	0.842116	0.51841	T	0.03456993	0.03903	0.059337877	0.11118	0.03456993	0.03903	0.059337877	0.11117	-3.748	0.20029	T	.	.	0.113	0.27762	B	.;.	.;.	2.119684	0.26979	17.31	0.99138202563181377	0.53464	0.91509	0.53680	D	AEFGBI	0.314866	0.41960	N	-0.265765024331248	0.30478	1.699878	-0.15144427833762	0.33353	1.906985	0.7181789030243	0.22899	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	2.54	0.29674	2.602000	0.45921	4.622000	0.44080	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7921:0.1352:0.0727:0.0	8.000	0.29449	522	0.74218	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1829.33	38	chr6	42676170	.	A	G	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=789;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.585;SOR=0.891	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr6	42721955	42721955	T	C	exonic	PRPH2	.	nonsynonymous SNV	PRPH2:NM_000322:exon1:c.A380G:p.E127G	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	962026	PRPH2-related_disorder|not_provided|Stargardt_disease|Cone-rod_dystrophy	MedGen:CN239395|MedGen:C3661900|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0771473730821	.	0.000399361	0.0005	0	8.64e-05	0.0001	0	1.498e-05	0	0.0032	0.0003752	58	154602	rs543703718	0.0002	0.0002	9.528e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.236e-05	0	2.519e-05	0	0.0002	1.799e-05	0.0001	0.0029	9.855e-05	9.845e-05	7.714e-05	0.0001	0.0025	6.006e-05	4.879e-05	0.0014	0.0011	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.008	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	0.000005	0.62929	D	0.144074	0.999997	0.58761	D	.	.	.	-1.39	0.80387	T	-4.22	0.75854	D	0.207	0.22998	-0.2412	0.76595	T	0.452	0.78597	T	10	0.01619196	0.00341	T	0.077147	0.72702	D	0.451	0.75143	0.521	0.62368	0.910693639176	0.90979	0.7347325705043225	0.73418	0.487374460136	0.47561	0.426002860069	0.28661	T	.	.	.	-0.223103	0.17570	T	-0.0978635	0.63563	T	0.133662187312463	0.15716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.39999	B	.	.	3.643317	0.51665	23.1	0.99852907423280257	0.93191	0.99530	0.97121	D	AEFDBI	0.928544	0.91292	D	0.348703693679775	0.58671	4.040817	0.478499057057429	0.66567	4.968994	0.999999999997072	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	6.240000	0.72321	6.112000	0.53677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	16.643	0.84991	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	9702.33	768	chr6	42721955	.	T	C	9702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.365;DP=2296;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.107;SOR=0.748	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr6	42745569	42745569	G	A	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.C505T:p.P169S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0006	0.0101837	0.0059	0.0018	0.0004	0.0490	0.0085	0.0017	0.0052	0.0048	0.0047541	735	154602	rs2234027	0.0025	0.0025	0.0024	0.0026	0.0465	0.0024	0.0024	0.0447	0.0440	0.0016	0.0003	0.0009	0.0465	0.0090	0.0010	0.0004	0.0043	0.0063	0.0037	0.0037	0.0035	0.0039	0.0480	0.0034	0.0033	0.0431	0.0412	0.0020	0	0.0020	0.0012	0.0480	0.0094	0	0.0006	0.0033	0.0099	0.375	0.11370	T	0.272	0.22223	T	0.004	0.12183	B	0.002	0.06944	B	0.000405	0.44736	D	0.189655	1	0.08975	N	1.055	0.26876	L	-0.91	0.75001	T	-0.49	0.15578	N	0.024	0.00445	-0.9806	0.34863	T	0.108	0.39270	T	10	0.002331376	0.00034	T	.	.	.	0.141	0.37795	.	.	0.301122078929	0.29733	0.40310114882651643	0.40226	.	.	0.26483091712	0.05480	T	0.02042	0.16081	T	-0.592881	0.00161	T	-0.586424	0.13976	T	0.00255495377341722	0.00027	T	0.455954	0.13062	T	0.04081184	0.05896	0.08117244	0.18424	0.04081184	0.05895	0.08117244	0.18424	-2.995	0.10127	T	.	.	0.070	0.03443	B	.	.	0.548081	0.09168	5.949	0.84720956909588874	0.15458	0.08350	0.14290	N	ALL	0.088528	0.17946	N	-0.948168287605445	0.09733	0.4619788	-0.982048075392835	0.10189	0.511572	0.99999974383507	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.99	1.09	0.19517	-0.558000	0.06069	0.178000	0.15598	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.1477:0.4191:0.4332:0.0	7.438	0.26338	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002528	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.011450	0.02632	879.33	35	chr6	42745569	.	G	A	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.099;SOR=0.607	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1497	18	0	1	0
chr6	42865012	42865012	G	A	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon12:c.G2806A:p.G936S,BICRAL:NM_001318819:exon14:c.G2806A:p.G936S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00802085053045	7.7e-05	0.000199681	7.432e-05	0	8.652e-05	0	0	4.508e-05	0	0.0003	6.47e-05	10	154602	rs200474023	6.02e-05	6.02e-05	5.446e-05	6.601e-05	0.0004	4.962e-05	4.627e-05	0.0003	0.0002	0	2.236e-05	0	0.0004	0	0	3.417e-05	3.312e-05	0.0004	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0002	2.108e-05	1.526e-05	1.914e-05	1.03e-05	7.219e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.437	0.09346	T	0.986	0.02387	T	0.078	0.24389	B	0.016	0.17743	B	0.000985	0.40743	D	0.184579	0.565824	0.32251	D	.	.	.	1.03	0.40469	T	0.93	0.01551	N	0.076	0.05542	-1.0321	0.19777	T	0.019	0.07846	T	10	0.019230127	0.00427	T	0.008021	0.21265	T	0.028	0.06331	.	.	0.117191471859	0.11215	0.15034218404144772	0.14956	0.208689439951	0.23337	0.379568397999	0.22196	T	0.012423	0.10924	T	-0.452997	0.01084	T	-0.583928	0.14196	T	0.0329123972561666	0.02457	T	0.722228	0.33571	T	0.023946527	0.01180	0.03834247	0.03681	0.023946527	0.01180	0.03834247	0.03681	-2.606	0.06549	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.818918	0.23114	15.89	0.9519032451233822	0.26372	0.74262	0.36326	D	AEFDGBI	0.054619	0.09945	N	-0.528712216303361	0.21156	1.120688	-0.333897705750462	0.27011	1.495934	0.989871415022135	0.31962	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	3.53	0.39533	2.110000	0.41497	2.093000	0.30559	-0.148000	0.12190	0.986000	0.36153	0.988000	0.31051	0.936000	0.47498	0.1684:0.2223:0.6093:0.0	4.418	0.10895	376	0.83959	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2419.33	33	chr6	42865012	.	G	A	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.02;DP=810;ExcessHet=0;FS=3.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.549;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	18	0	1	0
chr6	42890674	42890674	T	G	exonic	C6orf226	.	nonsynonymous SNV	C6orf226:NM_001008739:exon1:c.A115C:p.K39Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00483627572373	.	0.000798722	0.0003	0	0	0	0	0	0	0.0020	0.0002393	37	154602	rs532610402	0.0001	0.0001	6.404e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	2.988e-05	0	0	0	0	0	0	8.284e-05	0.0021	9.851e-05	9.843e-05	7.71e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0.0005	0.0029	0.031	0.45039	D	0.096	0.39340	T	0.013	0.16609	B	0.021	0.19346	B	0.599949	0.10968	N	0.781066	0.999479	0.21134	N	1.15	0.29295	L	.	.	.	-2.83	0.59710	D	0.151	0.15469	-0.9906	0.32449	T	0.024	0.10013	T	9	0.0059550703	0.00134	T	0.004836	0.12098	T	0.067	0.19503	0.162	0.06618	0.148003135375	0.14442	0.03278602376610636	0.03226	0.0825183256142	0.09310	.	.	.	0.00182	0.01242	T	-0.502061	0.00557	T	-0.500737	0.22271	T	0.0439379826312299	0.04410	T	0.408059	0.10511	T	0.39588594	0.60446	0.24196266	0.49606	0.39588594	0.60447	0.24196266	0.49605	-1.235	0.01301	T	.	.	0.123	0.25850	B	.	.	2.639067	0.34336	19.60	0.74376387192461468	0.10672	0.72180	0.35339	D	ALL	0.111101	0.22008	N	-0.56638134815921	0.19972	1.049481	-0.424679999332459	0.24276	1.32843	0.999999999999989	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.15	3.96	0.45097	1.175000	0.31553	0.684000	0.20706	0.559000	0.28343	0.877000	0.30928	0.520000	0.25304	0.373000	0.26178	0.0:0.0:0.1889:0.8111	8.870	0.34465	363	0.84772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	964.33	90	chr6	42890674	.	T	G	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.525;DP=702;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.057;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	18	0	1	0
chr6	43025045	43025045	C	T	exonic	RRP36	.	nonsynonymous SNV	RRP36:NM_001329704:exon2:c.C191T:p.T64M,RRP36:NM_033112:exon2:c.C191T:p.T64M	.	.	.	.	.	.	.	.	.	.	.	2218142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00996780394596	0.0014	0.000599042	0.0004	0.0027	0	0	0	0	0	0.0012	0.0003363	52	154602	rs140642066	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0014	0.0019	4.472e-05	0	2.519e-05	0	0.0002	4.047e-05	0.0003	0.0008	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	1.47e-05	0	0.0008	0.327	0.13262	T	0.185	0.28958	T	0.99	0.63424	D	0.374	0.43683	B	0.130994	0.18639	N	0.532223	1	0.08975	N	0.97	0.24054	L	0.95	0.43279	T	-0.5	0.15782	N	0.084	0.06059	-1.0995	0.04152	T	0.027	0.11397	T	10	0.0050758123	0.00110	T	0.009968	0.25946	T	0.054	0.15330	.	.	0.344483371355	0.34058	0.18074178393230403	0.17993	0.157824905585	0.17821	0.297141075134	0.09977	T	0.004733	0.04144	T	-0.537091	0.00349	T	-0.549508	0.17372	T	0.0130452411383394	0.00227	T	0.670133	0.27879	T	0.031309366	0.02947	0.041506242	0.04731	0.031309366	0.02947	0.041506242	0.04731	-5.667	0.43399	T	.	.	0.088	0.11893	B	.	.	2.060947	0.26204	17.04	0.98429452152860342	0.41375	0.16480	0.19408	N	AEFBCI	0.054590	0.09937	N	-0.371812565294605	0.26478	1.445381	-0.447886220181972	0.23609	1.28838	0.999998278388753	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.82	3.0	0.33773	0.588000	0.23626	0.603000	0.19949	0.599000	0.40250	0.029000	0.20367	0.000000	0.08366	0.684000	0.33659	0.1715:0.7379:0.0:0.0906	7.295	0.25561	179	0.93046	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	971.33	33	chr6	43025045	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=740;ExcessHet=0;FS=5.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.005;SOR=1.356	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1470	18	0	1	0
chr6	43072846	43072846	C	T	exonic	KLC4	.	nonsynonymous SNV	KLC4:NM_001289035:exon12:c.C1280T:p.T427M,KLC4:NM_001289034:exon13:c.C1511T:p.T504M,KLC4:NM_201521:exon13:c.C1511T:p.T504M,KLC4:NM_201523:exon13:c.C1565T:p.T522M,KLC4:NM_201522:exon14:c.C1511T:p.T504M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.07195460169	.	.	8.251e-06	0	8.649e-05	0	0	0	0	0	6.5e-06	1	154602	rs745503574	1.779e-05	1.779e-05	1.498e-05	2.063e-05	8.949e-05	1.238e-05	1.052e-05	2.986e-05	1.805e-05	0	8.949e-05	0	0	0	0	1.439e-05	9.935e-05	0	4.604e-05	4.598e-05	8.999e-05	0	0.0003	2.111e-05	1.528e-05	0.0001	8.295e-05	2.415e-05	0	0.0003	0	0	0	0	1.471e-05	0	0	0.004	0.68238	D	0.061	0.47581	T	0.989	0.77913	D	0.649	0.60933	P	0.000171	0.48594	D	0.090226	0.999932	0.51612	D	1.995	0.54099	M	-1.21	0.78860	T	-2.64	0.62151	D	0.427	0.49420	-0.0062	0.82128	T	0.503	0.81261	D	10	0.35685816	0.52415	T	0.071955	0.71405	D	0.332	0.65424	0.163	0.06730	0.950236430655	0.94971	0.694056680421084	0.69346	0.903739830431	0.70750	0.668942630291	0.62687	T	0.082082	0.36747	T	-0.0494357	0.44532	T	-0.111816	0.62467	T	0.844089925289154	0.49664	D	0.957304	0.83911	D	0.17393522	0.38169	0.18115306	0.40961	0.17393522	0.38169	0.18115306	0.40960	-5.658	0.43318	T	.	.	0.109	0.26042	B	.;.;.;.;.	.;.;.;.;.	5.046803	0.84037	28.2	0.9990199915539768	0.97350	0.98836	0.87495	D	AEFBI	0.846489	0.76336	D	0.661428082922514	0.77111	6.612078	0.694058714485329	0.81925	7.642579	0.999997234139819	0.74766	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	2.702000	0.46770	7.722000	0.67351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.437	0.90597	264	0.89640	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1275.33	33	chr6	43072846	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.115;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	0	1	0
chr6	43263156	43263156	C	T	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon13:c.C1792T:p.R598C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0830539110835	7.9e-05	.	3.717e-05	0	0	0	0	7.438e-05	0	0	1.29e-05	2	154602	rs374064146	2.398e-05	2.668e-05	2.229e-05	2.57e-05	5.261e-05	1.726e-05	1.523e-05	1.783e-05	1.535e-05	3.063e-05	0	4.01e-05	5.261e-05	0	0	2.572e-05	3.422e-05	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.16	0.44501	T	1.0	0.90584	D	0.993	0.81110	D	0.000116	0.50451	D	0.081027	0.998924	0.81001	D	1.975	0.53506	M	1.72	0.26588	T	-2.34	0.51811	N	0.627	0.64137	-1.0961	0.04597	T	0.086	0.33522	T	10	0.26014584	0.43460	T	0.083054	0.74032	D	0.190	0.46781	.	.	0.158540857583	0.15491	0.385840506688137	0.38499	1.20759006671	0.80741	0.660612106323	0.61498	T	0.142423	0.47800	T	0.0548717	0.58966	T	-0.158957	0.58446	T	0.936379671096802	0.60533	D	0.856214	0.55036	D	0.23040988	0.45795	0.18198717	0.41097	0.23040988	0.45795	0.18198717	0.41096	-5.697	0.43667	T	0.30052518271018785	0.39785	0.150	0.33755	B	.;.	.;.	5.084498	0.84876	28.4	0.99932835770735262	0.99439	0.95035	0.63201	D	AEFDBI	0.338170	0.43573	N	0.547228386387922	0.69914	5.425138	0.525393550945508	0.69703	5.398488	0.999995802193633	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.29	4.36	0.51643	3.514000	0.53179	3.971000	0.40825	-0.176000	0.10722	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.1739:0.8261:0.0:0.0	11.929	0.52121	184	0.92813	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	533.33	34	chr6	43263156	.	C	T	533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.569;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1049	18	0	1	0
chr6	43337521	43337521	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon10:c.T6477A:p.N2159K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00703308521123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.29	0.21011	T	0.589	0.39027	P	0.083	0.29179	B	0.041590	0.23933	N	0.403001	1	0.08975	N	1.525	0.38595	L	2.75	0.11622	T	-0.24	0.10833	N	0.157	0.16308	-0.9279	0.44444	T	0.005	0.01725	T	10	0.051739097	0.05101	T	0.007033	0.18621	T	0.037	0.09474	0.169	0.07419	0.12205267543	0.11705	0.0875118668446729	0.08684	0.126435533476	0.14255	0.3217702806	0.13690	T	0.014225	0.12151	T	-0.367268	0.03735	T	-0.765331	0.02925	T	0.117010288080907	0.14134	T	0.533547	0.17787	T	0.054480344	0.10457	0.04939154	0.07539	0.054480344	0.10457	0.04939154	0.07539	-3.641	0.18452	T	.	.	0.155	0.34250	B	.	.	1.227869	0.16223	12.40	0.96124789220383944	0.28787	0.09339	0.15115	N	AEFGBCI	0.057273	0.10653	N	-0.647866508663	0.17523	0.9023857	-0.681153808133069	0.17432	0.9269034	0.999998629402199	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.81	2.68	0.30839	-0.098000	0.10993	1.124000	0.24269	0.756000	0.94297	0.000000	0.06391	0.989000	0.31174	0.649000	0.32665	0.5558:0.0:0.2755:0.1687	4.072	0.09366	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	116	chr6	43337521	.	A	T	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=787;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.58;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr6	43339228	43339245	CTTAGTCTCAGGGGCCCC	-	exonic	ZNF318	.	nonframeshift deletion	ZNF318:NM_014345:exon10:c.4753_4770del:p.G1585_K1590del	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00259585	0.0014	0.0004	0.0010	0.0006	0	0.0007	0.0011	0.0065	0.0003074	8	26028	rs560879967	0.0011	0.0011	0.0010	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0006	0.0010	7.652e-05	0.0002	0.0001	0.0024	0.0008	0.0013	0.0067	0.0007	0.0007	0.0008	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0004	0	0.0006	0.0006	0.0008	0.0002	0	0.0009	0.0014	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3595.29	42	chr6	43339227	.	GCTTAGTCTCAGGGGCCCC	G	3595.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.297;DP=1392;ExcessHet=0;FS=6.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=0.435;SOR=0.659	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	18	0	1	0
chr6	43438628	43438628	C	T	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon6:c.C1876T:p.R626C,ABCC10:NM_001198934:exon8:c.C1960T:p.R654C,ABCC10:NM_001350518:exon8:c.C628T:p.R210C	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.047969511757	0.0008	.	0.0008	9.625e-05	0.0004	0.0001	0	0.0012	0.0033	0.0005	0.0007438	115	154602	rs142854084	0.0008	0.0008	0.0007	0.0008	0.0097	0.0007	0.0007	0.0077	0.0069	0.0002	0.0005	0.0020	0.0002	0.0001	0.0097	0.0007	0.0011	0.0015	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0006	0.0009	0.0009	0.0002	0	0.0005	0.0017	0.0002	9.413e-05	0.0034	0.0011	0.0005	0.0010	0.082	0.33254	T	0.148	0.35330	T	0.009	0.17086	B	0.003	0.16460	B	0.940964	0.08354	N	0.976043	1	0.08975	N	2.235	0.63160	M	-3.33	0.93928	D	-2.63	0.64019	D	0.202	0.22357	-0.5263	0.67681	T	0.465	0.79317	T	10	0.038787007	0.02321	T	0.04797	0.63161	D	0.169	0.43123	.	.	0.726201999256	0.72377	0.6434745691545959	0.64282	0.22161490424	0.24695	0.25750875473	0.04599	T	0.533371	0.88576	D	-0.290953	0.09540	T	-0.236262	0.51162	T	0.0174003051293453	0.00478	T	0.851115	0.53499	D	0.100255355	0.23671	0.05655513	0.10127	0.100255355	0.23671	0.05655513	0.10126	-7.594	0.58269	D	.	.	0.114	0.22537	B	.;.;.	.;.;.	1.191963	0.15836	12.13	0.96563484870347938	0.30268	0.15122	0.18755	N	AEFDBI	0.206029	0.33233	N	-0.838105808010063	0.12344	0.601142	-0.887282095227875	0.12394	0.6373132	0.999471259120078	0.39898	0.719381	0.83141	0	0.577304	0.33150	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.72	-1.27	0.08863	-0.054000	0.11783	0.089000	0.14491	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1187:0.201:0.4987:0.1815	3.871	0.08543	493	0.76500	ABC transporter-like;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.009511	0.026316	0.000000	0.034483	0.000000	0.003788	0.02632	1304.33	35	chr6	43438628	.	C	T	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=720;ExcessHet=0;FS=3.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.68;SOR=1.14	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1420	18	0	1	0
chr6	43444254	43444254	A	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon10:c.A2506G:p.K836E,ABCC10:NM_001198934:exon12:c.A2590G:p.K864E,ABCC10:NM_001350518:exon12:c.A1258G:p.K420E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00710439770183	0.0026	0.000199681	0.0017	0.0009	0.0003	0	0.0015	0.0024	0.0011	0.0012	0.001824	282	154602	rs138057759	0.0027	0.0027	0.0027	0.0027	0.0032	0.0026	0.0026	0.0031	0.0031	0.0005	0.0005	0.0008	0	0.0019	0.0002	0.0032	0.0017	0.0010	0.0016	0.0016	0.0017	0.0014	0.0027	0.0014	0.0014	0.0023	0.0022	0.0007	0.0011	0.0005	0.0003	0	0.0016	0	0.0027	0.0019	0.0006	1.0	0.00964	T	0.754	0.04737	T	0.001	0.12183	B	0.003	0.15521	B	0.000346	0.45440	D	0.229199	0.746296	0.29684	N	.	.	.	0.98	0.42122	T	0.87	0.02480	N	0.168	0.19055	-1.0056	0.28277	T	0.017	0.06759	T	10	0.006609738	0.00150	T	0.007104	0.18814	T	0.079	0.23065	.	.	0.466486631293	0.46274	0.4218287917242032	0.42098	0.27290702072	0.29797	0.364972054958	0.20107	T	0.04347	0.26512	T	-0.44712	0.01174	T	-0.416189	0.31512	T	0.0212949838539431	0.00831	T	0.80172	0.45238	T	0.08698423	0.20237	0.10163959	0.24337	0.08698423	0.20237	0.10163959	0.24337	-3.371	0.14669	T	.	.	0.105	0.28145	B	.;.	.;.	2.909717	0.38592	20.8	0.86425094039345196	0.16527	0.93491	0.58361	D	AEFDGBIJ	0.424832	0.48985	N	-0.50460137054547	0.21930	1.167474	-0.250136584995776	0.29767	1.670406	0.999863966478521	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.66	0.57857	2.510000	0.45129	4.575000	0.43896	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7212:0.2788:0.0:0.0	11.811	0.51454	395	0.83006	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1490.33	153	chr6	43444254	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=794;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.768;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	18	0	1	0
chr6	43447301	43447301	G	C	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon15:c.G3514C:p.G1172R,ABCC10:NM_001198934:exon17:c.G3598C:p.G1200R,ABCC10:NM_001350518:exon17:c.G2266C:p.G756R	.	415	1104	3	0	0	3	0.00135685	.	.	.	2445428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.752	0.205079403119	.	.	2.474e-05	0	0	0	0	3.002e-05	0.0011	0	1.94e-05	3	154602	rs779288383	1.163e-05	1.163e-05	1.362e-05	9.628e-06	0.0002	7.09e-06	5.79e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0001	0	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0004	2.558e-05	1.831e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	0.779	0.46518	P	0.216	0.51231	B	0.001167	0.39978	N	0.216900	1	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-5.94	0.90140	D	0.872	0.86941	0.415	0.89327	D	0.698	0.89610	D	10	0.8394195	0.83096	D	0.205079	0.86966	D	0.752	0.91498	.	.	0.960080510724	0.95965	0.9122644227004707	0.91200	0.593062829215	0.54674	0.842099189758	0.88415	D	0.531074	0.83774	D	0.366111	0.87711	D	0.395774	0.91972	D	0.761864483356476	0.43958	D	0.969603	0.89491	D	0.646621	0.75184	0.68110645	0.81261	0.646621	0.75185	0.68110645	0.81262	-10.964	0.79460	D	.	.	0.371	0.62386	A	.;.	.;.	4.130018	0.61802	24.4	0.99815182980397144	0.89885	0.99252	0.93473	D	AEFDBI	0.930023	0.91668	D	0.145122745964614	0.48582	3.06865	0.217637712624642	0.50825	3.270666	0.999999652316846	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.34	4.47	0.53770	8.135000	0.89505	8.685000	0.78057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.073:0.0:0.927:0.0	13.963	0.63702	364	0.84707	ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	675.33	33	chr6	43447301	.	G	C	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=681;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.97;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr6	43505287	43505287	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146020:exon9:c.G1076A:p.R359Q,TJAP1:NM_001146017:exon10:c.G1106A:p.R369Q,TJAP1:NM_001146019:exon10:c.G1076A:p.R359Q,TJAP1:NM_001350564:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350566:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350568:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350569:exon10:c.G1076A:p.R359Q,TJAP1:NM_080604:exon10:c.G1076A:p.R359Q,TJAP1:NM_001146016:exon11:c.G1106A:p.R369Q,TJAP1:NM_001146018:exon11:c.G1076A:p.R359Q,TJAP1:NM_001350562:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350563:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350565:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350567:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350570:exon11:c.G1076A:p.R359Q,TJAP1:NM_001350561:exon12:c.G1106A:p.R369Q	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00506721382569	0.0045	0.00259585	0.0044	0.0015	0.0038	0	0.0023	0.0065	0.0011	0.0014	0.0042626	659	154602	rs147994267	0.0051	0.0051	0.0052	0.0049	0.0068	0.0050	0.0049	0.0058	0.0057	0.0013	0.0051	0.0006	2.519e-05	0.0026	0.0068	0.0059	0.0040	0.0015	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0012	0.0220	0.0083	0.0009	0	0.0013	0.0034	0.0064	0.0057	0.0008	0.008	0.58626	D	0.085	0.42086	T	0.992	0.64738	D	0.602	0.50862	P	0.000000	0.84330	D	0.051993	0.999099	0.46054	D	2.485	0.72352	M	.	.	.	-0.96	0.25551	N	0.043	0.03069	-0.9295	0.44212	T	0.113	0.40284	T	9	0.004631996	0.00097	T	0.005067	0.12846	T	0.124	0.34239	.	.	0.349647731962	0.34572	0.16760095331914018	0.16680	0.314085752718	0.33693	0.378207981586	0.22001	T	0.03401	0.23149	T	-0.292969	0.09339	T	-0.18988	0.55602	T	0.0252477974553826	0.01304	T	0.922108	0.71672	D	0.17670898	0.38597	0.12419386	0.29938	0.17670898	0.38597	0.12419386	0.29937	-4.201	0.26766	T	.	.	0.076	0.06024	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.916006	0.38697	20.8	0.99930522021398371	0.99334	0.95896	0.66622	D	AEFDBI	0.531580	0.55180	D	0.448148735865169	0.64099	4.656862	0.471163442073018	0.66086	4.906625	0.999999848894646	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	4.69	0.58546	1.731000	0.37758	3.330000	0.37619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0747:0.1437:0.7816:0.0	9.526	0.38329	225	0.91282	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	1682.33	85	chr6	43505287	.	G	A	1682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=810;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.122;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	18	0	1	0
chr6	43516807	43516807	T	C	exonic	YIPF3	.	startloss	YIPF3:NM_015388:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.219	0.30243	B	0.14	0.33554	B	0.001678	0.38326	N	0.225377	1	0.81001	D	.	.	.	0.98	0.42502	T	-0.24	0.11185	N	0.707	0.78737	-0.8923	0.48731	T	0.107	0.38979	T	9	0.96412694	0.95864	D	0.517431	0.95395	D	0.311	0.63269	0.992	0.99914	0.628481164996	0.62545	0.39302415304488725	0.39217	.	.	.	.	.	0.036028	0.23947	T	0.249376	0.78544	D	0.120435	0.78265	D	0.997687101364136	0.92162	D	0.9	0.65058	D	0.9315904	0.94396	0.8803172	0.93584	0.9315904	0.94397	0.8803172	0.93584	-8.819	0.66525	D	.	.	.	.	.	.;.;.	.;.;.	3.712626	0.53010	23.3	0.98728699080096649	0.45318	0.21553	0.21442	N	AEFGBHCIJ	0.039999	0.05887	N	0.0232614513703857	0.42914	2.594763	0.130618296872723	0.46123	2.863502	0.999999999999977	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.06	5.06	0.67838	2.579000	0.45725	7.852000	0.71012	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.194	0.47932	217	0.91564	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	54.33	34	chr6	43516807	.	T	C	54.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.007;DP=710;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.554;SOR=1.105	GT:AD:DP:GQ:PL	0/1:63,10:73:68:68,0,1772	18	0	1	0
chr6	43640388	43640388	G	A	exonic	MAD2L1BP	.	nonsynonymous SNV	MAD2L1BP:NM_014628:exon3:c.G680A:p.R227Q,MAD2L1BP:NM_001003690:exon4:c.G776A:p.R259Q	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0002	0.0107827	0.0053	9.711e-05	0.0003	0	0	3.024e-05	0.0045	0.0380	0.0046054	712	154602	rs146911441	0.0022	0.0022	0.0012	0.0032	0.0349	0.0021	0.0021	0.0339	0.0335	0.0001	2.236e-05	0	2.519e-05	0	0.0010	1.799e-05	0.0023	0.0349	0.0011	0.0011	0.0006	0.0017	0.0349	0.0010	0.0010	0.0306	0.0289	7.22e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0349	0.399	0.11478	T	0.239	0.24477	T	0.312	0.32836	B	0.066	0.27432	B	0.019947	0.27146	N	0.341241	0.999299	0.21398	N	1.645	0.42016	L	0.84	0.47477	T	-0.95	0.28497	N	0.164	0.17416	-1.0255	0.21919	T	0.026	0.11087	T	10	0.006864339	0.00156	T	.	.	.	0.043	0.11576	.	.	0.313518423057	0.30959	0.4420740439328499	0.44124	0.34074805764	0.36013	0.241858512163	0.02960	T	0.093338	0.39190	T	-0.572834	0.00213	T	-0.569153	0.15528	T	0.0209023217590896	0.00791	T	0.767123	0.39533	T	0.052423846	0.09774	0.07780771	0.17369	0.052423846	0.09774	0.07780771	0.17368	-3.299	0.13724	T	.	.	0.095	0.14933	B	.;.	.;.	2.637322	0.34311	19.59	0.95089169706422572	0.26151	0.82132	0.41407	D	AEFBCI	0.223499	0.34785	N	-0.714922339776648	0.15602	0.7877124	-0.552494016022375	0.20739	1.118775	0.999999914124255	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.09	2.28	0.27583	1.769000	0.38152	5.848000	0.50311	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2831:0.0:0.7169:0.0	11.05	0.47098	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1391.33	35	chr6	43640388	.	G	A	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=775;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.55;SOR=0.547	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr6	43671899	43671899	T	C	exonic	MRPS18A	.	stoploss	MRPS18A:NM_001193343:exon5:c.A384G:p.X128W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	.	.	.	0.0003	0	0.0001	0	0	0	0	0.0023	0.0001876	29	154602	rs756058099	9.066e-05	9.235e-05	5.738e-05	0.0001	0.0015	7.788e-05	7.329e-05	0.0013	0.0012	2.995e-05	2.28e-05	0	0	0	0	0	4.987e-05	0.0015	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.051	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	0.995327	0.81001	D	.	.	.	.	.	.	-2.24	0.50175	N	0.719	0.72120	-1.0305	0.20292	T	0.065	0.26772	T	8	0.03924766	0.02400	T	.	.	.	0.238	0.54217	0.257	0.19845	0.424430313326	0.42057	0.5630192695606459	0.56228	0.527751724854	0.50377	0.6171656847	0.55328	T	0.081735	0.37540	T	0.138038	0.68139	D	0.406491	0.92320	D	0.195620187455294	0.20170	T	0.813919	0.46746	T	0.58362305	0.71806	0.28037784	0.54012	0.58362305	0.71807	0.28037784	0.54011	-3.496	0.16375	T	.	.	0.484	0.72980	A	.;.	.;.	4.495793	0.70266	25.5	0.89786118355677413	0.19099	0.94198	0.60411	D	AEFDGBHCI	0.901973	0.84932	D	0.347206814608775	0.58590	4.03238	0.417062689935245	0.62627	4.481374	0.999999999997883	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	5.75	0.90390	7.108000	0.76696	7.924000	0.74674	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:0.0:0.0:1.0	12.444	0.54977	507	0.75469	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	35	chr6	43671899	.	T	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.577;SOR=0.679	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	18	0	1	0
chr6	44135333	44135333	G	C	exonic	TMEM63B	.	nonsynonymous SNV	TMEM63B:NM_001318792:exon4:c.G245C:p.R82P,TMEM63B:NM_018426:exon4:c.G245C:p.R82P	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	7.7e-05	0.00399361	0.0026	0.0001	0.0002	0	0	1.731e-05	0.0013	0.0184	0.002044	316	154602	rs371238478	0.0010	0.0010	0.0006	0.0014	0.0158	0.0009	0.0009	0.0151	0.0148	2.989e-05	4.481e-05	0	0	0	0.0009	8.998e-07	0.0013	0.0158	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0	0.0176	0.019	0.50132	D	0.204	0.48594	T	0.625	0.40054	P	0.162	0.34839	B	0.000220	0.47681	D	0.088316	0.978079	0.39427	D	1.78	0.46185	L	1.16	0.38073	T	-0.75	0.24676	N	0.542	0.56919	-1.0648	0.10596	T	0.030	0.13023	T	10	0.005761504	0.00128	T	.	.	.	0.164	0.42212	.	.	0.043077524339	0.03247	0.8768560772387578	0.87652	1.87457451814	0.92549	0.350712358952	0.18027	T	0.020088	0.15881	T	-0.413149	0.01895	T	-0.353262	0.38832	T	0.031023383204343	0.02150	T	0.493251	0.20478	T	0.3777359	0.59152	0.38292825	0.63268	0.3777359	0.59153	0.38292825	0.63268	-4.668	0.33015	T	.	.	0.320	0.61015	B	.;.;.	.;.;.	2.968236	0.39555	21.0	0.99362520399714704	0.61071	0.84837	0.43929	D	AEFBCI	0.635481	0.61498	D	-0.126361312137192	0.36247	2.092598	-0.034412145475776	0.38171	2.245171	0.999984438573626	0.51787	0.706548	0.73137	0	0.614415	0.52539	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.48	3.6	0.40374	0.888000	0.27904	2.185000	0.31161	-0.153000	0.12021	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.0867:0.0:0.9133:0.0	11.852	0.51693	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	702.33	34	chr6	44135333	.	G	C	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=746;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.285;SOR=0.497	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1480	18	0	1	0
chr6	44166785	44166785	G	A	exonic	CAPN11	.	nonsynonymous SNV	CAPN11:NM_007058:exon2:c.G44A:p.S15N	.	413	1088	20	1	0	22	0.0100091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0292194920995	.	0.00179712	0.0029	0	0.0047	0.0015	0	0.0006	0.0039	0.0073	0.0005886	91	154602	rs184018090	0.0010	0.0010	0.0009	0.0012	0.0071	0.0010	0.0010	0.0066	0.0064	9.494e-05	0.0008	3.972e-05	5.597e-05	8.074e-05	0.0049	0.0007	0.0010	0.0071	0.0007	0.0007	0.0005	0.0009	0.0087	0.0006	0.0006	0.0066	0.0059	0.0002	0	0.0006	0.0003	0.0002	0	0	0.0006	0.0009	0.0087	0.0	0.91255	D	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.16	0.11366	N	0.013	0.00142	-0.8195	0.53965	T	0.230	0.59571	T	9	0.0039018989	0.00074	T	0.029219	0.51767	D	0.192	0.47115	.	.	0.426084969639	0.42228	0.17094657105786304	0.17014	0.078352535382	0.08816	0.287228643894	0.08520	T	2.58E-4	0.00056	T	-0.437653	0.01335	T	-0.397988	0.33618	T	0.00729532215437788	0.00084	T	0.318368	0.07952	T	0.06864038	0.14970	0.086320244	0.19992	0.06864038	0.14970	0.086320244	0.19991	-4.34	0.28734	T	.	.	0.084	0.09578	B	.;.	.;.	0.014380	0.04381	1.132	0.8257640048727598	0.14264	0.00373	0.01896	N	AEFDBHCIJ	0.015051	0.00269	N	-1.31163451281577	0.03541	0.1583595	-1.38248497642257	0.03438	0.1603905	0.999995856291685	0.74766	0.517182	0.21443	0	0.478664	0.06816	1	0.658952	0.52864	0	0.530356	0.10902	0	.	.	1.21	-0.00771	0.13331	0.576000	0.23446	0.945000	0.22881	-0.979000	0.01905	0.005000	0.17040	0.069000	0.22184	0.002000	0.04165	0.6703:0.0:0.3297:0.0	2.988	0.05612	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002132	0.000000	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1309.33	33	chr6	44166785	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=731;ExcessHet=0;FS=1.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.439;SOR=0.55	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:81,28:109:29:29,0,1413	8	0	8	3
chr6	44276274	44276274	G	A	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.G1448A:p.R483Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.579273161958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.281e-06	1.094e-05	3.212e-06	1.368e-05	3.773e-05	4.19e-06	3.05e-06	6.26e-06	2.34e-06	0	0	0	0	0	0	7.077e-06	2.02e-05	3.773e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.089	0.40426	T	0.669	0.41149	P	0.036	0.22909	B	0.000448	0.44317	U	0.145378	0.986101	0.81001	D	1.6	0.40776	L	.	.	.	-1.16	0.29727	N	0.188	0.20528	-1.0257	0.21853	T	0.059	0.24723	T	9	0.28771186	0.46354	T	0.579273	0.96224	D	0.135	0.36572	0.254	0.19378	0.110078149338	0.10416	0.5237042331030716	0.52294	.	.	0.884602308273	0.94572	D	0.010225	0.09253	T	-0.0215371	0.48634	T	-0.268713	0.47950	T	0.952814042568207	0.63880	D	0.917308	0.70348	D	0.21569856	0.44010	0.19510849	0.43170	0.21569856	0.44010	0.19510849	0.43169	-5.434	0.41245	T	.	.	0.178	0.38853	B	.	.	3.933310	0.57511	23.9	0.99801367845013023	0.88639	0.91360	0.53377	D	AEFDBHCIJ	0.692566	0.65218	D	0.107769570853805	0.46826	2.917019	0.181312961699331	0.48825	3.093194	0.999999999997634	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	3.66	3.66	0.41111	5.975000	0.70167	11.481000	0.92892	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.610	0.76452	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	473.33	33	chr6	44276274	.	G	A	473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.354;DP=662;ExcessHet=0;FS=1.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.96;SOR=0.43	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1157	18	0	1	0
chr6	44282286	44282286	T	G	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon4:c.A1120C:p.I374L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00607781148537	0.0005	.	0.0004	0.0002	0	0	0	0.0007	0	6.056e-05	0.0003493	54	154602	rs144702034	0.0004	0.0004	0.0004	0.0004	0.0061	0.0004	0.0004	0.0045	0.0039	0.0003	8.944e-05	0.0146	0	0	0.0061	9.442e-05	0.0012	3.478e-05	0.0004	0.0004	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	7.894e-05	4.824e-05	0	6.545e-05	0.0121	0	0	0	0.0002	0.0005	0	0.739	0.03708	T	0.898	0.03065	T	0.005	0.12996	B	0.007	0.12992	B	0.019567	0.27228	N	0.390235	0.979376	0.81001	D	.	.	.	0.68	0.51952	T	0.03	0.06612	N	0.15	0.15328	-1.0568	0.12569	T	0.028	0.11926	T	10	0.0053301454	0.00117	T	0.006078	0.15905	T	0.077	0.22490	.	.	0.0884992946249	0.08302	0.2937180561920451	0.29284	0.329308758953	0.35042	0.372744947672	0.21225	T	0.007762	0.07145	T	-0.405689	0.02124	T	-0.551221	0.17209	T	0.0237948741906698	0.01119	T	0.710329	0.32115	T	0.06907593	0.15103	0.048939843	0.07375	0.06907593	0.15103	0.048939843	0.07375	-4.127	0.25687	T	.	.	0.125	0.26263	B	.	.	1.551661	0.19886	14.49	0.96115629843551575	0.28757	0.75509	0.36974	D	AEFGBI	0.230770	0.35410	N	-0.478498794117698	0.22787	1.219166	-0.284163241708931	0.28620	1.597132	0.254538872261828	0.18718	0.490419	0.18000	1	0.563428	0.19063	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	5.22	4.03	0.46115	0.124000	0.15557	4.225000	0.42617	0.665000	0.62972	0.977000	0.34929	1.000000	0.68203	0.772000	0.36596	0.0:0.1529:0.1603:0.6868	5.208	0.14625	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.017544	0.050000	0.000000	0.003049	0.000000	0.02632	3104.33	36	chr6	44282286	.	T	G	3104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=851;ExcessHet=0;FS=6.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-2.547;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1296	18	0	1	0
chr6	44286034	44286034	T	C	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon3:c.A776G:p.N259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.011126002251	.	0.000399361	1.649e-05	0	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs185170524	7.537e-06	8.893e-06	6.818e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	0.0001	0.0001	0	0.0002	0	0	0	0	0	0	0	3.291e-05	3.284e-05	1.288e-05	5.387e-05	0.0003	1.263e-05	7.99e-06	0.0001	8.294e-05	0	0	0.0003	0	0	0	0	0	0	0	0.454	0.10245	T	0.272	0.29249	T	0.217	0.30183	B	0.033	0.22329	B	0.000212	0.47681	D	0.248154	0.988777	0.81001	D	.	.	.	0.07	0.61677	T	-2.37	0.52289	N	0.118	0.12341	-1.0369	0.18264	T	0.074	0.29802	T	10	0.03868395	0.02304	T	0.011126	0.28436	T	0.133	0.36157	.	.	0.194818534648	0.19098	0.21681489854066419	0.21597	0.288202736158	0.31226	0.387309551239	0.23290	T	0.021205	0.16557	T	-0.360323	0.04112	T	-0.579508	0.14588	T	0.168698340654373	0.18492	T	0.846215	0.57103	T	0.06270953	0.13127	0.09149877	0.21516	0.06270953	0.13127	0.09149877	0.21515	-2.374	0.04976	T	.	.	0.127	0.37121	B	.;.	.;.	1.788838	0.22740	15.74	0.97498251412866666	0.34283	0.14150	0.18249	N	AEFBCI	0.229351	0.35289	N	-0.138695286523636	0.35716	2.055125	0.00331579402422016	0.39870	2.370523	0.012991485605714	0.12402	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	1.269000	0.32677	5.116000	0.47551	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.079:0.0:0.921	10.600	0.44552	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	74.01	156	chr6	44286034	.	T	C	74.01	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.846;DP=1365;ExcessHet=0.119;FS=88.176;InbreedingCoeff=-0.0544;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.22;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	17	0	2	0
chr6	44286263	44286263	G	A	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon3:c.C547T:p.L183F	.	415	1100	7	0	0	7	0.00317173	.	.	.	3206502	TCTE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	.	0.00479233	0.0039	0.0001	0.0002	0	0	1.537e-05	0.0011	0.0278	0.0032535	503	154602	rs201180749	0.0017	0.0017	0.0010	0.0025	0.0275	0.0017	0.0017	0.0266	0.0262	8.961e-05	0	0	5.038e-05	0	0.0014	2.788e-05	0.0019	0.0275	0.0008	0.0008	0.0003	0.0012	0.0232	0.0006	0.0006	0.0197	0.0184	9.618e-05	0	0	0	0	0	0	0	0	0.0232	0.142	0.40068	T	0.037	0.51737	D	0.034	0.20480	B	0.029	0.21540	B	0.000196	0.48115	N	0.185768	0.978989	0.81001	D	.	.	.	1.71	0.55945	T	-2.71	0.61722	D	0.208	0.41360	-1.0550	0.13040	T	0.073	0.29707	T	10	0.0068954527	0.00157	T	.	.	.	0.054	0.15330	0.356	0.35734	0.195762928549	0.19159	0.629521578012924	0.62886	0.498997635455	0.48355	0.438099056482	0.30317	T	0.109621	0.42365	T	-0.520648	0.00436	T	-0.499702	0.22378	T	0.0339801288012856	0.02635	T	0.793521	0.43550	T	0.1474151	0.33702	0.17812745	0.40460	0.1474151	0.33701	0.17812745	0.40460	-7.716	0.59119	D	.	.	0.096	0.26074	B	.;.	.;.	2.917690	0.38724	20.8	0.99191023623751862	0.54965	0.25506	0.22719	N	AEFBCI	0.348796	0.44281	N	-0.304830405602377	0.28964	1.60208	-0.228072110993665	0.30536	1.720077	0.359148880160979	0.19760	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.16	3.38	0.37806	3.893000	0.55955	6.749000	0.56505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.1495:0.0:0.8505:0.0	11.158	0.47725	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2475.33	39	chr6	44286263	.	G	A	2475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.484;DP=917;ExcessHet=0;FS=7.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.001;SOR=0.603	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr6	44300553	44300553	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon22:c.G2952C:p.Q984H	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1190520	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.158	0.0412117860732	.	.	0.0006	0	8.639e-05	0	0	0	0.0011	0.0041	0.0004528	70	154602	rs760967545	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0003	0.0039	9.19e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.522e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.009	0.57480	D	0.014	0.62352	D	0.981	0.59675	D	0.592	0.50503	P	0.004357	0.33837	N	0.302707	0.767686	0.81001	D	1.245	0.31408	L	-0.08	0.63911	T	-2.02	0.46503	N	0.18	0.19459	-0.8848	0.49373	T	0.089	0.34408	T	10	0.010703385	0.00237	T	0.041212	0.59806	D	0.158	0.41098	0.218	0.13932	0.796551075559	0.79465	0.3508327743899962	0.34997	0.620502415664	0.56365	0.36597764492	0.20253	T	0.020993	0.16426	T	-0.358122	0.04237	T	-0.287475	0.46033	T	0.117623947087596	0.14195	T	0.284172	0.05010	T	0.48817956	0.66394	0.25006953	0.50590	0.48817956	0.66395	0.25006953	0.50589	-4.536	0.31356	T	.	.	0.152	0.33732	B	.	.	3.092541	0.41643	21.4	0.99749467578759643	0.84152	0.92087	0.54916	D	AEFBCI	0.229196	0.35275	N	0.193445750043728	0.50884	3.274296	0.281611896073176	0.54466	3.611522	0.31372256166002	0.19314	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	5.2	0.71720	0.560000	0.23204	0.005000	0.13351	0.599000	0.40250	1.000000	0.71638	0.772000	0.26708	0.818000	0.38543	0.0:0.8519:0.0:0.1481	10.978	0.46689	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	33	chr6	44300553	.	C	G	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.571;DP=776;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.075;SOR=0.482	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1378	18	0	1	0
chr6	44301434	44301434	G	A	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon20:c.C2629T:p.R877W	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	139923	not_provided|Combined_oxidative_phosphorylation_defect_type_8|not_specified|AARS2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0075	0.00738818	0.0023	0.0247	0.0012	0	0	3.004e-05	0	0.0002	0.0021863	338	154602	rs112247130	0.0007	0.0007	0.0008	0.0006	0.0252	0.0007	0.0007	0.0238	0.0232	0.0252	0.0015	0	0	0	0.0005	1.888e-05	0.0017	0.0002	0.0074	0.0075	0.0075	0.0073	0.0253	0.0071	0.0069	0.0240	0.0235	0.0253	0	0.0037	0	0	0	0	8.821e-05	0.0104	0.0002	0.009	0.57480	D	0.008	0.67890	D	0.991	0.64070	D	0.446	0.45959	B	0.002292	0.36846	N	0.214971	0.864991	0.81001	D	1.5	0.37844	L	-0.11	0.64445	T	-3.75	0.71157	D	0.334	0.37509	-0.8388	0.52726	T	0.129	0.43767	T	10	0.005481392	0.00121	T	.	.	.	0.144	0.38394	.	.	0.795177276677	0.79327	0.3944172722042989	0.39356	0.715118187512	0.61921	0.335545301437	0.15770	T	0.090134	0.38521	T	-0.396031	0.02458	T	-0.323394	0.42200	T	0.030779544288987	0.02111	T	0.879412	0.59551	D	0.27001098	0.50073	0.19079024	0.42502	0.27001098	0.50073	0.19079024	0.42501	-9.28	0.69481	D	0.7022392466798901	0.78137	0.096	0.15251	B	.	.	4.285836	0.65326	24.8	0.99914176305592106	0.98309	0.83641	0.42745	D	AEFDBI	0.541512	0.55763	D	0.209063733750071	0.51637	3.34346	0.193044599731748	0.49464	3.149337	0.0970859806587175	0.16270	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	3.4	0.38031	2.067000	0.41087	7.105000	0.57548	0.676000	0.76740	0.073000	0.22155	0.999000	0.35428	0.907000	0.44265	0.0:0.0:0.4598:0.5402	11.902	0.51970	807	0.43470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	872.33	92	chr6	44301434	.	G	A	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.851;DP=1623;ExcessHet=0;FS=8.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.992;SOR=1.705	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr6	44305114	44305114	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon11:c.G1519C:p.V507L	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	266175	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0118770163491	.	0.000399361	3.296e-05	0	0	0.0003	0	1.5e-05	0	0	3.88e-05	6	154602	rs182596701	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	8.993e-07	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.321	0.13522	T	0.231	0.25061	T	0.018	0.17786	B	0.039	0.23607	B	0.003754	0.34535	N	0.277539	0.955672	0.81001	D	1.32	0.33002	L	-0.1	0.64264	T	-1.74	0.41239	N	0.095	0.07535	-1.0838	0.06628	T	0.072	0.29098	T	10	0.020444691	0.00471	T	0.011877	0.29939	T	0.040	0.10527	0.45	0.51121	0.524584940466	0.52104	0.5340116045202374	0.53326	0.235666090612	0.26095	0.332209199667	0.15268	T	0.125078	0.45055	T	-0.430707	0.01468	T	-0.536448	0.18647	T	0.0508620247647817	0.05651	T	0.848015	0.52922	T	0.046427928	0.07767	0.05191496	0.08450	0.046427928	0.07767	0.05191496	0.08450	-3.38	0.14788	T	.	.	0.109	0.20934	B	.	.	1.034402	0.14145	10.72	0.96221837557056111	0.29088	0.12682	0.17416	N	AEFDGBHCI	0.202684	0.32926	N	-0.607302768717073	0.18723	0.9743992	-0.549154972637436	0.20829	1.123982	0.999999978194986	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.01	0.986	0.18902	0.061000	0.14242	0.428000	0.18294	0.580000	0.29708	0.002000	0.15269	0.094000	0.22579	0.881000	0.42162	0.0:0.5324:0.2498:0.2178	6.241	0.20000	803	0.44167	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	929.33	35	chr6	44305114	.	C	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=730;ExcessHet=0;FS=1.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.034;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	18	0	1	0
chr6	45422755	45422755	C	A	exonic	RUNX2	.	nonsynonymous SNV	RUNX2:NM_001278478:exon1:c.C179A:p.A60E,RUNX2:NM_001369405:exon1:c.C179A:p.A60E,RUNX2:NM_001015051:exon3:c.C221A:p.A74E,RUNX2:NM_001024630:exon3:c.C221A:p.A74E	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	6	1429	71	5	11	92	0.0275604	.	.	.	1426320	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.563957239495	.	.	0.0001	0	0	0	0	5.115e-05	0	0.0005	7.12e-05	11	154602	rs753139240	6.522e-05	7e-05	4.434e-05	8.632e-05	0.0006	5.322e-05	4.926e-05	0.0005	0.0004	0	0	0	0	2.278e-05	0.0006	2.351e-05	0.0002	0.0006	4.359e-05	4.334e-05	2.848e-05	5.931e-05	6.758e-05	1.865e-05	1.227e-05	2.276e-05	1.362e-05	0	0.0015	0	0	0	0	0	6.758e-05	0.0005	0	0.007	0.59928	D	0.263	0.74150	T	0.087	0.27581	B	0.02	0.24526	B	0.560670	0.11340	N	0.710186	0.705148	0.37315	D	0.55	0.14455	N	1.98	0.42502	T	-1.36	0.33798	N	0.364	0.43320	-1.0728	0.08808	T	0.021	0.08917	T	10	0.070038736	0.10135	T	0.563957	0.96031	D	0.179	0.44899	.	.	0.724478149945	0.72203	0.5683497064965654	0.56762	0.727131412637	0.62554	0.834606289864	0.87270	D	0.593754	0.86879	D	-0.0496728	0.44498	T	-0.309128	0.43753	T	0.142797999451752	0.16514	T	0.60094	0.22576	T	0.15577787	0.35190	0.27332053	0.53251	0.22907913	0.45639	0.33611405	0.59417	-9.013	0.67871	D	.	.	0.274	0.51669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.939750	0.39084	20.9	0.98393472500670454	0.40989	0.76520	0.37535	D	AEFDGBCIJ	0.485406	0.52501	N	-0.513762608585363	0.21634	1.149572	-0.348213487231703	0.26564	1.468117	0.999998228576119	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.22	3.22	0.36041	1.146000	0.31201	5.755000	0.49649	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.1887:0.8113:0.0:0.0	10.899	0.46249	663	0.61610	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1802.43	40	chr6	45422755	.	C	A	1802.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=902;ExcessHet=0.119;FS=0.484;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.015;SOR=0.627	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	45422755	45422755	C	0	exonic	RUNX2	.	.	.	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	6	1429	71	5	11	92	0.0275604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1802.43	40	chr6	45422755	.	C	*	1802.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=902;ExcessHet=0.119;FS=0.484;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.015;SOR=0.627	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	46165545	46165545	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_001290073:exon3:c.A566G:p.Y189C,ENPP5:NM_021572:exon3:c.A848G:p.Y283C,ENPP5:NM_001290072:exon4:c.A848G:p.Y283C	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	.	0.0002	0.00878594	0.0042	0.0002	0	0.0542	0	0	0.0024	0.0011	0.0037128	574	154602	rs16874326	0.0015	0.0014	0.0015	0.0014	0.0447	0.0014	0.0014	0.0429	0.0422	0.0001	0.0002	0	0.0447	1.908e-05	0.0004	3.454e-05	0.0033	0.0011	0.0019	0.0019	0.0016	0.0022	0.0480	0.0017	0.0016	0.0431	0.0412	0.0003	0	0.0003	0	0.0480	0	0	7.351e-05	0.0014	0.0031	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.063755	0.991788	0.41474	D	3.555	0.93317	H	-1.03	0.76430	T	-6.58	0.91956	D	0.777	0.79889	0.403	0.89140	D	0.636	0.87258	D	10	0.005901158	0.00132	T	.	.	.	0.565	0.82232	.	.	0.847175020424	0.84571	0.800071460652037	0.79961	0.694992629652	0.60793	0.553568005562	0.46361	T	0.142456	0.47806	T	-0.137128	0.30348	T	0.0712282	0.74991	D	0.150421059239426	0.17137	T	0.890111	0.62362	D	0.9484006	0.96104	0.8227801	0.89717	0.9484006	0.96104	0.8227801	0.89717	-10.184	0.75006	D	.	.	0.130	0.30608	B	.;.	.;.	5.045569	0.84013	28.2	0.99700178427410679	0.80591	0.96121	0.67629	D	AEFBI	0.624371	0.60796	D	0.758221850222071	0.83440	8.017956	0.667393288604577	0.79911	7.183709	0.00127462043884895	0.08400	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.77	4.54	0.55220	2.112000	0.41516	5.031000	0.46827	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1919:0.0:0.1092:0.6989	8.667	0.33287	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1128.33	108	chr6	46165545	.	T	C	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=728;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.258;SOR=1.049	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07895	4958.79	68	chr6	46168058	.	T	C	4958.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.61;DP=1446;ExcessHet=0.3672;FS=1.711;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.72;SOR=0.805	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1577,0,1483	16	0	3	0
chr6	46587162	46587162	G	A	exonic	CYP39A1	.	nonsynonymous SNV	CYP39A1:NM_001278739:exon9:c.C649T:p.R217C,CYP39A1:NM_001278738:exon10:c.C1105T:p.R369C,CYP39A1:NM_016593:exon10:c.C1165T:p.R389C	.	434	1074	12	2	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.969	0.492592502326	0.0011	0.000199681	0.0015	0	0.0003	0.0001	0	0.0017	0	0.0037	0.001022	158	154602	rs141809814	0.0007	0.0008	0.0006	0.0009	0.0036	0.0007	0.0007	0.0032	0.0031	6.005e-05	0.0004	0.0094	2.527e-05	1.883e-05	0.0031	0.0004	0.0013	0.0036	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	4.82e-05	0	0.0007	0.0109	0	9.454e-05	0	0.0006	0.0009	0.0025	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.785	0.81254	M	-4.3	0.97172	D	-7.53	0.95131	D	0.984	0.99337	1.091	0.99295	D	0.966	0.98907	D	10	0.12622187	0.23994	T	0.492593	0.95023	D	0.969	0.99622	.	.	0.976959273625	0.97671	0.9304559729975352	0.93024	0.316271458439	0.33892	0.530950367451	0.43168	T	0.330005	0.70024	T	0.225843	0.76328	D	0.550159	0.95619	D	0.158181583346134	0.17736	T	0.966103	0.87544	D	0.83306134	0.86117	0.8460373	0.91239	0.83306134	0.86118	0.8460373	0.91239	-11.596	0.82827	D	.	.	0.342	0.69538	A	.;.	.;.	5.781741	0.93528	33	0.99931661039732522	0.99387	0.97624	0.75980	D	AEFI	0.958526	0.97836	D	1.02890515527548	0.96566	14.85402	0.976231845598325	0.98112	17.45599	0.999990547598924	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.961000	0.87447	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.301	0.98613	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	375.33	37	chr6	46587162	.	G	A	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.561;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.653;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr6	46688620	46688620	G	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G492T:p.K164N,TDRD6:NM_001168359:exon1:c.G492T:p.K164N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0195890948391	.	0.00139776	0.0003	0	0	0.0046	0	1.622e-05	0	0	0.000304	47	154602	rs184343332	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0123	0.0119	0	0	0	0.0132	0	0.0002	4.497e-06	4.976e-05	0	0.0002	0.0002	8.993e-05	0.0002	0.0043	0.0001	8.712e-05	0.0029	0.0024	0	0	6.533e-05	0	0.0043	0	0	0	0	0	0.006	0.61437	D	0.01	0.65728	D	0.969	0.56768	D	0.642	0.52168	P	0.809345	0.09263	N	0.913645	0.858416	0.28393	N	2.645	0.77386	M	2.31	0.16794	T	-2.11	0.48020	N	0.341	0.38232	-1.0711	0.09173	T	0.037	0.16116	T	10	0.008818179	0.00200	T	0.019589	0.41992	T	0.059	0.16972	0.368	0.37687	0.484329738948	0.48065	0.7342469212029396	0.73369	0.188060966055	0.21130	0.620627462864	0.55818	T	0.216675	0.57891	T	-0.600942	0.00144	T	-0.636827	0.09903	T	0.182547897540404	0.19395	T	0.744226	0.36418	T	0.25243923	0.48259	0.1993276	0.43809	0.25243923	0.48259	0.1993276	0.43808	-8.578	0.64944	D	.	.	0.587	0.69337	P	.;.	.;.	3.182994	0.43212	21.7	0.99538795497657917	0.70336	0.95155	0.63640	D	AEFDBI	0.307674	0.41448	N	0.183005961142792	0.50382	3.228846	0.129277200963509	0.46053	2.857729	2.15964581729737E-4	0.05997	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.47	2.74	0.31352	0.542000	0.22930	2.237000	0.31580	0.590000	0.31872	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.3669:0.0:0.6331:0.0	8.433	0.31930	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1444.33	93	chr6	46688620	.	G	T	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=781;ExcessHet=0;FS=1.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.631;SOR=0.534	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr6	46689536	46689536	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G1408A:p.D470N,TDRD6:NM_001168359:exon1:c.G1408A:p.D470N	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	7.7e-05	0.0153754	0.0059	0.0002	0	0.0768	0	5.996e-05	0.0033	0.0023	0.0054721	846	154602	rs142765925	0.0018	0.0018	0.0018	0.0018	0.0494	0.0017	0.0017	0.0476	0.0469	0.0002	8.944e-05	0.0002	0.0494	0	0.0002	4.137e-05	0.0053	0.0029	0.0031	0.0031	0.0028	0.0033	0.0733	0.0028	0.0027	0.0672	0.0648	0.0003	0	0.0012	0.0012	0.0733	0	0	0.0001	0.0043	0.0071	0.059	0.37536	T	0.11	0.37449	T	0.839	0.46454	P	0.205	0.37080	B	0.140009	0.18323	N	0.591327	1	0.08975	N	1.59	0.40313	L	2.47	0.14783	T	-0.64	0.18670	N	0.176	0.18920	-1.0048	0.28517	T	0.013	0.05321	T	10	0.0025939047	0.00040	T	.	.	.	0.109	0.30843	.	.	0.527356302626	0.52384	0.2332353423243683	0.23238	0.0514255740683	0.05660	0.302000582218	0.10699	T	0.048007	0.27891	T	-0.737276	0.00022	T	-0.765879	0.02906	T	0.0391045540544767	0.03528	T	0.813419	0.46649	T	0.080301896	0.18392	0.07138637	0.15281	0.080301896	0.18391	0.07138637	0.15281	-4.16	0.26170	T	.	.	0.083	0.09143	B	.;.	.;.	2.691980	0.35142	19.82	0.99470250869973698	0.66312	0.30886	0.24197	N	AEFDBI	0.171086	0.29803	N	-0.0934038008132409	0.37680	2.195812	-0.0587741419455164	0.37112	2.168697	0.966806520581125	0.28930	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.024000	0.49358	5.742000	0.49579	0.676000	0.76740	0.327000	0.25564	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.8337:0.1663	12.537	0.55492	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2500.33	85	chr6	46689536	.	G	A	2500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.66;DP=1883;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=2.29;SOR=0.595	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr6	46693980	46693980	A	G	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.A5852G:p.D1951G,TDRD6:NM_001168359:exon1:c.A5852G:p.D1951G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0123738722209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.207	0.26969	T	0.012	0.16265	B	0.007	0.12992	B	0.087088	0.20552	N	0.455228	0.818384	0.34740	D	1.7	0.43825	L	2.46	0.14907	T	-1.27	0.31981	N	0.195	0.21449	-0.9790	0.35231	T	0.106	0.38685	T	10	0.14919606	0.28240	T	0.012374	0.30882	T	0.046	0.12618	0.252	0.19067	0.510230903827	0.50662	0.2566780910250505	0.25581	0.0344876997802	0.03621	0.267914801836	0.05871	T	0.03864	0.24909	T	-0.215698	0.18584	T	-0.547612	0.17555	T	0.664186716079712	0.39080	D	0.553645	0.19140	T	0.06974133	0.15305	0.065315686	0.13219	0.06974133	0.15304	0.065315686	0.13218	-3.869	0.22212	T	.	.	0.091	0.13221	B	.;.	.;.	1.965718	0.24968	16.59	0.98377634903682587	0.40822	0.65283	0.32685	D	AEFDBI	0.127788	0.24530	N	0.0405839693542937	0.43711	2.658685	0.0608810528482297	0.42601	2.579553	0.00248515008301428	0.09470	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.56	4.38	0.52019	1.857000	0.39038	3.853000	0.40098	0.756000	0.94297	0.926000	0.32145	0.996000	0.32793	0.077000	0.17074	0.91:0.0:0.09:0.0	8.622	0.33028	562	0.71143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2632.33	184	chr6	46693980	.	A	G	2632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.521;DP=1281;ExcessHet=0;FS=4.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.349;SOR=0.936	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr6	47010050	47010050	C	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon11:c.G1385C:p.G462A	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0148596975298	0.0058	0.00159744	0.0040	0.0006	0.0011	0	0.0006	0.0064	0.0033	0.0021	0.0041203	637	154602	rs45461593	0.0054	0.0054	0.0055	0.0054	0.0158	0.0053	0.0053	0.0132	0.0122	0.0007	0.0023	0.0099	0	0.0005	0.0158	0.0062	0.0054	0.0032	0.0044	0.0044	0.0048	0.0039	0.0068	0.0041	0.0040	0.0063	0.0061	0.0016	0.0121	0.0041	0.0095	0.0002	0.0004	0.0102	0.0068	0.0057	0.0017	0.005	0.68238	D	0.143	0.39492	T	0.618	0.39878	P	0.101	0.30765	B	0.000886	0.41231	D	0.108197	0.928347	0.36892	D	.	.	.	1.35	0.34841	T	-5.13	0.83224	D	0.14	0.15469	-1.0658	0.10362	T	0.053	0.22539	T	10	0.003125757	0.00052	T	0.01486	0.35248	T	0.158	0.41098	.	.	0.252162846088	0.24830	0.5626145801708726	0.56188	0.0811084518359	0.09126	0.352576434612	0.18300	T	0.067042	0.37257	T	-0.490778	0.00643	T	-0.474995	0.24980	T	0.0738526429195159	0.09182	T	0.714229	0.32652	T	0.47816974	0.65789	0.45515832	0.68323	0.47816974	0.65790	0.45515832	0.68324	-4.273	0.27797	T	.	.	0.151	0.33342	B	.;.	.;.	1.918867	0.24368	16.37	0.99546258656753994	0.70836	0.55949	0.29993	D	AEFBCI	0.209860	0.33580	N	-0.229438254843676	0.31931	1.795477	-0.2679141333085	0.29162	1.63163	0.834347638524773	0.24750	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.2	4.32	0.50899	0.892000	0.27957	2.219000	0.31434	0.587000	0.30956	0.004000	0.16614	0.440000	0.24899	0.798000	0.37648	0.0:0.8659:0.1341:0.0	16.104	0.81014	810	0.42761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.009511	0.008772	0.050000	0.017241	0.003049	0.007576	0.07895	6477.79	34	chr6	47010050	.	C	G	6477.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.294;DP=1162;ExcessHet=0.3672;FS=0.525;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.15;SOR=0.735	GT:AD:DP:GQ:PL	0/1:88,84:172:99:2122,0,2298	16	0	3	0
chr6	47503301	47503301	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon2:c.A26G:p.D9G	Glomerulosclerosis, focal segmental, 3	1	1519	2	0	0	2	0.000657895	.	.	.	991524	not_provided|Focal_segmental_glomerulosclerosis_3,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.529	0.0558101485702	7.7e-05	.	0.0001	0	8.651e-05	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs367952819	6.774e-05	6.772e-05	4.765e-05	8.803e-05	0.0004	5.671e-05	5.262e-05	0.0003	0.0002	0	0.0001	0.0016	0	0	0	9.894e-06	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.573e-05	6.279e-05	0.0002	0.0001	0	0	0.0004	0.0029	0	0	0	0	0.0005	0.0002	0.006	0.61437	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000826	0.41547	D	0.295074	0.999991	0.58761	D	3.825	0.95591	H	0.4	0.57261	T	-4.87	0.81269	D	0.711	0.71410	-0.3915	0.72294	T	0.290	0.66133	T	10	0.42039317	0.56824	T	0.05581	0.66374	D	0.529	0.80128	.	.	0.695972301561	0.69335	0.5747412154089172	0.57403	0.364936172264	0.38099	0.859982550144	0.91109	D	0.367821	0.73283	T	-0.124366	0.32411	T	-0.116096	0.62122	T	0.969168722629547	0.68494	D	0.955204	0.82942	D	0.61331165	0.73406	0.52217454	0.72394	0.61331165	0.73407	0.52217454	0.72395	-9.223	0.69121	D	0.6807414548324721	0.75708	0.604	0.69057	P	.	.	4.877856	0.79967	27.2	0.9986847674531194	0.94637	0.97244	0.73544	D	AEFDBCI	0.844123	0.76110	D	0.783433652980668	0.85060	8.464612	0.718245451620623	0.83765	8.108229	0.999999741927087	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	8.544000	0.90458	11.045000	0.85225	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.148	0.64894	532	0.73501	SH3 domain|SH3 domain|SH3 domain|SH3 domain|CD2-associated protein, first SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	33	chr6	47503301	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.398;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	18	0	1	0
chr6	47681687	47681687	A	T	exonic	ADGRF2	.	nonsynonymous SNV	ADGRF2:NM_001368115:exon6:c.A1128T:p.R376S,ADGRF2:NM_153839:exon7:c.A924T:p.R308S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00241247781212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24758	T	0.181	0.34477	T	0.034	0.20480	B	0.006	0.13708	B	0.463622	0.04885	N	1.283870	1	0.08975	N	.	.	.	1.98	0.37230	T	-1.2	0.30555	N	0.073	0.07949	-1.0115	0.26447	T	0.020	0.08453	T	10	0.059034288	0.07033	T	0.002412	0.04729	T	0.023	0.04649	0.493	0.58048	0.0551355673512	0.04727	0.22356580391043948	0.22271	0.0108111970447	0.01002	0.242224380374	0.02994	T	0.025232	0.18911	T	-0.280838	0.10579	T	-0.641181	0.09582	T	0.0549071654677391	0.06341	T	0.316668	0.06305	T	0.11944349	0.28124	0.055917744	0.09896	0.11944349	0.28124	0.055917744	0.09896	-2.144	0.04055	T	.	.	0.117	0.32922	B	.;.;.	.;.;.	0.592866	0.09614	6.387	0.87570630534523708	0.17323	0.01508	0.04988	N	AEFIJ	0.047820	0.08095	N	-1.03259981243168	0.07934	0.3702531	-1.09841256076569	0.07732	0.3772576	0.0319284438173481	0.14028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	-6.83	0.01532	-1.428000	0.02545	-0.114000	0.11796	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.2142:0.2806:0.2816:0.2236	1.102	0.01581	477	0.77662	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	115	chr6	47681687	.	A	T	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.553;DP=2129;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=2.18;SOR=0.639	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr6	47710807	47710807	T	C	exonic	ADGRF4	.	nonsynonymous SNV	ADGRF4:NM_001347855:exon4:c.T221C:p.I74T,ADGRF4:NM_153838:exon4:c.T221C:p.I74T	.	431	1090	1	0	0	1	0.000458505	.	.	.	3248062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00822618377372	.	0.000199681	9.893e-05	9.634e-05	0	0.0008	0	2.999e-05	0	0.0001	9.06e-05	14	154602	rs554308397	5.884e-05	5.883e-05	4.766e-05	7.014e-05	0.0006	4.877e-05	4.497e-05	0.0004	0.0003	2.989e-05	2.237e-05	7.653e-05	0.0006	0	0.0002	4.497e-05	4.968e-05	5.798e-05	5.253e-05	5.25e-05	7.711e-05	2.686e-05	0.0008	2.556e-05	1.829e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0008	0	0	4.41e-05	0	0	0.089	0.32141	T	0.118	0.36233	T	0.014	0.16867	B	0.019	0.18783	B	0.000119	0.50451	D	0.141124	0.876452	0.28122	N	.	.	.	1.53	0.35031	T	-2.61	0.56144	D	0.194	0.21319	-1.0807	0.07214	T	0.033	0.14203	T	10	0.060506552	0.07443	T	0.008226	0.21801	T	0.118	0.32913	0.568	0.69034	0.394079506076	0.39022	0.515185705291655	0.51441	0.145038065069	0.16392	0.495091199875	0.38144	T	0.042371	0.26162	T	-0.376768	0.03264	T	-0.415944	0.31542	T	0.0469865709608589	0.04962	T	0.60024	0.22396	T	0.17209229	0.37881	0.17228344	0.39472	0.17209229	0.37881	0.17228344	0.39471	-5.039	0.37261	T	.	.	0.108	0.20586	B	.;.;.	.;.;.	2.769179	0.36341	20.2	0.98581888389336036	0.43258	0.71381	0.34989	D	AEFBI	0.227796	0.35155	N	-0.0861628127825727	0.38000	2.218973	0.0998010641741129	0.44538	2.733726	0.0260200169052623	0.13685	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.475000	0.44821	7.878000	0.72341	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.0843:0.0:0.9157	8.829	0.34233	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1383.33	107	chr6	47710807	.	T	C	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=798;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	49848287	49848287	C	T	exonic	CRISP1	.	nonsynonymous SNV	CRISP1:NM_001131:exon4:c.G208A:p.E70K,CRISP1:NM_001205220:exon4:c.G208A:p.E70K,CRISP1:NM_170609:exon4:c.G208A:p.E70K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00256716953776	.	.	1.661e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752317042	5.519e-06	6.841e-06	4.12e-06	6.932e-06	0.0002	2.37e-06	1.72e-06	4.944e-05	3.19e-05	0	0	0	0.0001	0	0.0002	1.809e-06	0	0	6.601e-06	6.576e-06	0	1.353e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.106	0.32769	T	0.223	0.33219	T	0.408	0.35000	B	0.066	0.29270	B	0.043086	0.23774	N	0.452325	0.999004	0.21718	N	1.43	0.35840	L	3.03	0.08898	T	-1.87	0.43717	N	0.205	0.23380	-0.9667	0.37874	T	0.007	0.02598	T	9	0.14009175	0.26631	T	0.002567	0.05178	T	0.027	0.05988	0.447	0.50629	0.298056030225	0.29408	0.41560062105162066	0.41476	0.0246665095138	0.02506	0.345405757427	0.17243	T	0.066799	0.33036	T	-0.466916	0.00889	T	-0.639169	0.09729	T	0.0973339230997829	0.12060	T	0.777722	0.41106	T	0.047565464	0.08151	0.07192713	0.15459	0.047565464	0.08151	0.07192713	0.15459	-6.074	0.47866	T	.	.	0.148	0.32637	B	.;.;.;.	.;.;.;.	1.561227	0.19999	14.54	0.98977525652259335	0.49660	0.03604	0.08833	N	AEFBI	0.053840	0.09736	N	-0.448852767840664	0.23778	1.279374	-0.480950975421705	0.22678	1.23301	4.01472536688507E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	2.77	0.31614	0.398000	0.20624	0.763000	0.21331	0.596000	0.33519	0.005000	0.17040	0.005000	0.19230	0.417000	0.27162	0.0:0.6639:0.2176:0.1185	5.069	0.13935	815	0.41851	.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain;.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	40	chr6	49848287	.	C	T	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.472;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.39;SOR=0.678	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1043	18	0	1	0
chr6	49969615	49969615	A	T	exonic	DEFB113	.	nonsynonymous SNV	DEFB113:NM_001037729:exon1:c.T11A:p.L4H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00831367960519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.996	0.68779	D	0.819	0.59018	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.75	0.71157	D	0.551	0.57690	-1.0554	0.12934	T	0.104	0.38243	T	6	0.45655888	0.59025	T	0.008314	0.22004	T	0.273	0.58883	0.439	0.49321	0.37281450598	0.36888	0.5210472359426864	0.52027	0.00420974053619	0.00371	0.460148900747	0.33331	T	0.078144	0.35823	T	0.00176929	0.51899	T	-0.235235	0.51263	T	0.730141758918762	0.42217	D	0.362864	0.08399	T	0.4414448	0.63496	0.46278054	0.68810	0.4414448	0.63496	0.46278054	0.68811	-8.143	0.62040	D	.	.	0.374	0.58048	A	.	.	3.220851	0.43878	21.8	0.97779039293483583	0.35919	0.19385	0.20640	N	AEFGI	0.062214	0.11946	N	-0.0138700101375934	0.41229	2.462264	-0.167508595992906	0.32740	1.865679	0.237607546325165	0.18535	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.06	4.06	0.46572	3.456000	0.52764	5.645000	0.49163	0.674000	0.70861	0.179000	0.24051	0.736000	0.26449	0.819000	0.38590	1.0:0.0:0.0:0.0	9.588	0.38691	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	980.33	40	chr6	49969615	.	A	T	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.134;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.612;SOR=0.719	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1058	18	0	1	0
chr6	51648091	51648091	G	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon63:c.C11338T:p.P3780S	Polycystic kidney and hepatic disease, Autosomal recessive	1	1518	2	1	0	4	0.00131579	.	.	.	212523	PKHD1-related_disorder|not_specified|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.278	0.0439955096572	0.0013	0.000399361	0.0016	0.0005	0.0010	0	0	0.0025	0	0.0003	0.0015847	245	154602	rs41273722	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0012	0.0001	2.521e-05	0.0004	0.0010	0.0026	0.0018	0.0004	0.0013	0.0013	0.0014	0.0013	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0.0011	0.0012	0.0003	0	0.0003	0	0.0024	0.0028	0	0.213	0.19430	T	0.0	0.92824	D	0.999	0.77913	D	0.927	0.66185	D	0.000116	0.50451	D	0.084638	0.68822	0.33300	D	2.175	0.60977	M	-1.93	0.84842	D	-1.69	0.40274	N	0.452	0.48963	0.092	0.84031	D	0.632	0.87110	D	10	0.02890262	0.01019	T	0.043996	0.61267	D	0.278	0.59497	.	.	0.966569475504	0.96620	0.46922739786967055	0.46841	0.195989524406	0.21957	0.384402215481	0.22879	T	0.183789	0.53624	T	-0.30049	0.08614	T	-0.208087	0.53879	T	0.0830832272768021	0.10377	T	0.816518	0.47234	T	0.082296066	0.18951	0.1283553	0.30881	0.082296066	0.18951	0.1283553	0.30880	-2.541	0.06068	T	0.5877003342696331	0.65449	0.129	0.27702	B	.	.	3.460068	0.48218	22.6	0.99763191342688695	0.85254	0.92650	0.56212	D	AEFBI	0.328658	0.42925	N	0.421040448651109	0.62581	4.476246	0.356432187268895	0.58895	4.063194	0.999998516581733	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	3.725000	0.54697	8.503000	0.77365	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	17.415	0.87389	640	0.64132	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	648.33	34	chr6	51648091	.	G	A	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.199;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	18	0	1	0
chr6	52050161	52050161	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2275A:p.A759T,PKHD1:NM_170724:exon22:c.G2275A:p.A759T	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1523786	Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.101034951189	.	.	7.423e-05	0	8.649e-05	0	0	1.5e-05	0	0.0004	5.82e-05	9	154602	rs550730673	4.72e-05	4.788e-05	3.131e-05	6.326e-05	0.0006	3.794e-05	3.476e-05	0.0005	0.0004	0	0	0	0	0	0.0004	1.439e-05	1.656e-05	0.0006	2.628e-05	2.627e-05	1.285e-05	4.033e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.34800	T	0.337	0.31125	T	0.915	0.50599	P	0.395	0.44317	B	0.113628	0.19308	N	0.511935	1	0.08975	N	2.215	0.62545	M	-2.13	0.87989	D	-1.1	0.28497	N	0.265	0.30118	-0.5660	0.66173	T	0.396	0.74887	T	10	0.10588005	0.19592	T	0.101035	0.77368	D	0.318	0.64008	0.309	0.28128	0.947683704956	0.94713	0.3973606380263486	0.39651	0.213808415534	0.23901	0.328379452229	0.14689	T	0.249297	0.61924	T	-0.236613	0.15783	T	-0.210062	0.53690	T	0.130280204329559	0.15408	T	0.772023	0.40277	T	0.09555055	0.22489	0.09528257	0.22592	0.09555055	0.22489	0.09528257	0.22591	-3.455	0.15807	T	0.7175199945611166	0.79831	0.111	0.21578	B	.;.	.;.	2.023647	0.25718	16.86	0.9971364310916101	0.81493	0.03749	0.09053	N	AEFBCI	0.078671	0.15877	N	0.0653614029288907	0.44851	2.751812	0.0267083913233828	0.40960	2.452874	0.999677444377244	0.41644	0.525926	0.21836	0	0.615948	0.52940	0	0.491513	0.07944	0	0.584449	0.35598	0	.	.	5.64	3.82	0.43153	1.517000	0.35474	2.287000	0.31935	0.599000	0.40250	0.016000	0.19238	0.855000	0.27430	0.886000	0.42526	0.0:0.5619:0.341:0.0971	7.963	0.29245	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1020.33	38	chr6	52050161	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.307;DP=788;ExcessHet=0;FS=10.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.56;SOR=1.733	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	18	0	1	0
chr6	52403274	52403274	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0264967686467	.	.	4.32e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs751676049	8.903e-06	9.577e-06	5.449e-06	1.24e-05	0.0002	4.97e-06	3.83e-06	0.0001	9.2e-05	0	0.0002	0	0	0	0	1.801e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.027	0.72224	D	1.0	0.90584	D	0.927	0.66185	D	0.000059	0.53742	D	0.128409	1	0.81001	D	.	.	.	0.82	0.48142	T	-3.23	0.65056	D	0.496	0.52918	-0.7583	0.57498	T	0.170	0.51117	T	10	0.40429464	0.55784	T	0.026497	0.49402	D	0.251	0.56024	.	.	0.758307598439	0.75611	0.62581252890368	0.62514	1.34852957792	0.84031	0.597539544106	0.52557	T	0.278778	0.65144	T	-0.2246	0.17369	T	-0.262839	0.48540	T	0.745931446552277	0.43059	D	0.944805	0.81406	D	0.276474	0.50709	0.20679131	0.44909	0.276474	0.50709	0.20679131	0.44908	-6.321	0.48888	T	.	.	0.122	0.40826	B	.;.;.	.;.;.	5.291379	0.88845	29.8	0.99928539385047799	0.99222	0.99113	0.91417	D	AEFDBI	0.813537	0.73598	D	0.556333252960996	0.70469	5.506012	0.533443650102859	0.70254	5.478261	0.999980120731414	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.3	4.42	0.52775	4.846000	0.62558	5.889000	0.50737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1503:0.8497:0.0:0.0	14.241	0.65505	721	0.55360	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	121.33	62	chr6	52403274	.	C	T	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.565;DP=1047;ExcessHet=0;FS=85.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=-0.167;SOR=6.925	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1490	18	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,19:176:99:0|1:52403967_A_G:128,0,6395:52403967	5	0	6	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	1704.79	284	chr6	52403969	.	C	G	1704.79	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-6.531;DP=2551;ExcessHet=1.3;FS=133.981;InbreedingCoeff=-0.1889;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=2.81;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,19:178:99:0|1:52403967_A_G:123,0,6418:52403967	14	0	3	2
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1871.38	277	chr6	52403970	.	C	T	1871.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:160,0:178:99:0|1:52403967_A_G:113,594,7104:52403967	15	0	2	2
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	1871.38	277	chr6	52403970	.	C	G	1871.38	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,18:178:99:0|1:52403967_A_G:113,0,6456:52403967	13	0	4	2
chr6	52424111	52424111	C	A	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon2:c.C229A:p.P77T,EFHC1:NM_001172420:exon3:c.C172A:p.P58T	.	0	1521	1	0	0	1	0.000328623	.	.	.	17106	not_provided|EFHC1-related_disorder|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_specified	MedGen:C3661900|.|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	.	0.0082	0.00658946	0.0023	0.0254	0.0016	0	0	2.998e-05	0	0	0.0021733	336	154602	rs149055334	0.0007	0.0007	0.0008	0.0006	0.0243	0.0007	0.0006	0.0229	0.0224	0.0243	0.0019	0	0	0	0.0005	1.888e-05	0.0014	1.159e-05	0.0072	0.0072	0.0075	0.0069	0.0249	0.0068	0.0067	0.0236	0.0231	0.0249	0	0.0033	0	0	0	0	2.941e-05	0.0047	0	0.545	0.06869	T	0.615	0.07999	T	0.0	0.02946	B	0.001	0.04355	B	0.128192	0.18740	N	0.585786	1	0.08975	N	1.005	0.25186	L	-0.05	0.66474	T	0.51	0.03191	N	0.276	0.31253	-0.9978	0.30535	T	0.056	0.23715	T	10	0.00282076	0.00045	T	.	.	.	0.115	0.32236	.	.	0.537262924806	0.53376	0.36393647829424697	0.36307	0.0960049981914	0.10833	0.315855711699	0.12794	T	0.057268	0.30520	T	-0.482075	0.00719	T	-0.445647	0.28179	T	0.00599273627254286	0.00066	T	0.89841	0.64469	D	0.09763606	0.23018	0.0947643	0.22445	0.13126656	0.30603	0.08010018	0.18090	-3.157	0.12988	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.013242	0.13924	10.48	0.65059104143241131	0.07666	0.05724	0.11649	N	ALL	.	.	.	-0.950195021013638	0.09687	0.4596077	-0.846886465808864	0.13362	0.6927766	0.999999999989409	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.654926	0.60358	0	.	.	5.98	3.13	0.35090	0.485000	0.22033	0.133000	0.15072	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.0:0.4179:0.5821:0.0	19.219	0.93776	758	0.50837	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3059.33	39	chr6	52424111	.	C	A	3059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.202;DP=922;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.188;SOR=0.611	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr6	52452768	52452768	G	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.G654C:p.Q218H,EFHC1:NM_001172420:exon5:c.G597C:p.Q199H	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0213006561176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.076	0.42794	T	0.009	0.15093	B	0.009	0.14300	B	0.502789	0.05102	N	1.224780	0.960058	0.26162	N	1.4	0.35362	L	-0.17	0.68892	T	-2.16	0.48850	N	0.282	0.31925	-0.9120	0.46607	T	0.130	0.44009	T	10	0.11768001	0.30019	T	0.021301	0.44047	T	0.080	0.23350	0.359	0.36222	0.77106490448	0.76897	0.4579657901614387	0.45714	0.0818539134905	0.09219	0.300646156073	0.10496	T	0.038097	0.66461	T	-0.126555	0.32055	T	-0.419564	0.31125	T	0.146014183759689	0.16781	T	0.886611	0.61335	D	0.077110946	0.17481	0.10104331	0.24178	0.077110946	0.17481	0.10104331	0.24178	-6.283	0.49704	T	0.2239105676680736	0.30232	0.121	0.35951	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.653286	0.21093	15.05	0.9879689365631017	0.46381	0.81040	0.40530	D	AEFDBI	0.214327	0.33981	N	-0.321073350943608	0.28348	1.56288	-0.21485408905987	0.31003	1.75056	0.101889425332378	0.16395	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	1.66	0.23081	0.325000	0.19374	0.953000	0.22937	0.676000	0.76740	0.948000	0.32982	0.995000	0.32472	0.942000	0.48361	0.2712:0.0:0.7288:0.0	11.909	0.52009	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1444.33	34	chr6	52452768	.	G	C	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.913;SOR=0.748	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	18	0	1	0
chr6	52452776	52452776	G	A	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.G662A:p.R221H,EFHC1:NM_001172420:exon5:c.G605A:p.R202H	.	0	1521	1	0	0	1	0.000328623	.	.	.	38421	not_specified|not_provided|EFHC1-related_disorder|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1	MedGen:CN169374|MedGen:C3661900|.|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0081	0.00658946	0.0023	0.0252	0.0017	0	0	2.997e-05	0	0	0.0021798	337	154602	rs79761183	0.0007	0.0007	0.0008	0.0007	0.0239	0.0007	0.0007	0.0225	0.0220	0.0239	0.0020	0	2.52e-05	0	0.0007	5.755e-05	0.0014	2.319e-05	0.0071	0.0071	0.0073	0.0069	0.0245	0.0067	0.0066	0.0232	0.0227	0.0245	0	0.0033	0	0	0	0	2.94e-05	0.0047	0.0002	0.036	0.43393	D	0.043	0.49942	D	0.043	0.21573	B	0.033	0.22329	B	0.003577	0.34767	N	0.361283	0.998138	0.22332	N	1.43	0.35840	L	-0.22	0.69657	T	-2.46	0.53736	N	0.222	0.26596	-0.9567	0.39789	T	0.125	0.43049	T	10	0.005691111	0.00126	T	.	.	.	0.087	0.25287	.	.	0.771497139511	0.76940	0.4762191173191057	0.47541	0.109795811323	0.12382	0.256661623716	0.04501	T	0.031626	0.51816	T	-0.440934	0.01277	T	-0.38655	0.34957	T	0.0105838508162557	0.00148	T	0.917708	0.70434	D	0.0588431	0.11889	0.06485459	0.13061	0.05554676	0.10810	0.06076902	0.11626	-5.459	0.42746	T	0.1935168301108141	0.25467	0.076	0.14477	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.098206	0.41745	21.4	0.99317477733671133	0.59241	0.59757	0.31004	D	AEFDBI	0.126190	0.24303	N	-0.237796168079966	0.31593	1.773086	-0.144071103542994	0.33638	1.926223	0.127781907198104	0.17027	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	2.2	0.26966	1.943000	0.39880	5.106000	0.47475	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.936000	0.47498	0.2434:0.1053:0.6513:0.0	7.973	0.29302	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2125.33	34	chr6	52452776	.	G	A	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.331;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	18	0	1	0
chr6	52452799	52452799	T	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon4:c.T685C:p.F229L,EFHC1:NM_001172420:exon5:c.T628C:p.F210L	.	0	1500	22	0	0	22	0.00727995	.	.	.	17103	not_specified|not_provided|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|Absence_seizure	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C0014553,Orphanet:1941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	0.031365780839	0.0033	0.00179712	0.0036	0.0005	0.0019	0	0	0.0046	0.0044	0.0059	0.003454	534	154602	rs137852776	0.0034	0.0034	0.0032	0.0036	0.0175	0.0033	0.0033	0.0147	0.0137	0.0009	0.0023	0.0093	0	0.0001	0.0175	0.0033	0.0049	0.0064	0.0025	0.0025	0.0027	0.0022	0.0037	0.0023	0.0022	0.0033	0.0032	0.0004	0.0011	0.0027	0.0081	0.0006	0.0002	0.0102	0.0037	0.0066	0.0031	0.122	0.28646	T	0.46	0.12597	T	0.504	0.37219	P	0.313	0.41496	B	0.000485	0.43931	D	0.293940	0.933231	0.38088	D	2.095	0.58118	M	-0.03	0.66834	T	-3.63	0.69714	D	0.549	0.57518	-0.6689	0.61879	T	0.230	0.59534	T	10	0.008032471	0.00182	T	0.031366	0.53467	D	0.399	0.71321	0.716	0.85141	0.731118981328	0.72872	0.5701267345547452	0.56940	0.121426892883	0.13675	0.618223547935	0.55478	T	0.058338	0.63291	T	-0.0980215	0.36755	T	0.0884799	0.76144	D	0.0429790339192971	0.04234	T	0.915508	0.87759	D	0.23443545	0.46263	0.23962149	0.49316	0.19015794	0.40589	0.21333316	0.45839	-5.389	0.40813	T	0.3224772137888053	0.42062	0.768	0.80895	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.128566	0.61766	24.4	0.98029295558647345	0.37697	0.91334	0.53324	D	AEFDBI	0.459867	0.51029	N	0.321863335675946	0.57272	3.893954	0.416421696834408	0.62587	4.476721	0.992551105850647	0.32882	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	6.01	0.97420	4.606000	0.60832	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0673:0.0:0.9327	12.303	0.54206	857	0.34089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.031250	0.011696	0.150000	0.008621	0.006098	0.015152	0.02632	1665.33	34	chr6	52452799	.	T	C	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=784;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.992;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	18	0	1	0
chr6	52490311	52490311	A	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon10:c.A1812C:p.E604D,EFHC1:NM_001172420:exon11:c.A1755C:p.E585D	.	0	1510	12	0	0	12	0.00395778	.	.	.	134411	not_specified|not_provided|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|Juvenile_myoclonic_epilepsy	MedGen:CN169374|MedGen:C3661900|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00219649	0.0017	0	0.0003	0	0	4.507e-05	0	0.0124	0.0015265	236	154602	rs369503191	0.0008	0.0008	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0106	0	0.0002	0	0	0	0.0021	3.957e-05	0.0010	0.0115	0.0003	0.0003	0.0001	0.0005	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0.0001	0	0	0	0	0.0001	0	0.0070	0.748	0.03776	T	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	0.394215	0.13213	N	0.751926	0.999998	0.08975	N	-0.06	0.04898	N	0.92	0.44461	T	-0.02	0.07299	N	0.115	0.10340	-0.9788	0.35277	T	0.016	0.06664	T	10	0.0033372045	0.00058	T	.	.	.	0.031	0.07369	0.319	0.29741	0.464953486513	0.46119	0.16648808848209132	0.16568	0.077068649369	0.08657	0.279707670212	0.07451	T	0.060977	0.31532	T	-0.627401	0.00099	T	-0.6646	0.07959	T	0.00872844818848592	0.00107	T	0.684232	0.30630	T	0.029315807	0.02406	0.027176164	0.00852	0.021454683	0.00749	0.024846615	0.00512	-3.392	0.14949	T	.	.	0.070	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.962149	0.13387	9.893	0.87962188463989954	0.17612	0.02930	0.07745	N	AEFDGBCIJ	0.032328	0.03627	N	-0.795966146545056	0.13414	0.6606749	-0.692779193718994	0.17141	0.9100885	0.999999581964257	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.659464	0.59346	0	0.648885	0.59868	0	.	.	5.66	0.669	0.17086	0.204000	0.17133	0.013000	0.13471	0.756000	0.94297	0.188000	0.24163	0.000000	0.08366	0.704000	0.34264	0.2965:0.3805:0.0934:0.2296	1.597	0.02505	889	0.27310	EF-hand domain|EF-hand domain;.;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2293.33	33	chr6	52490311	.	A	C	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.607;DP=783;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.162;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	52509560	52509560	G	C	exonic	TRAM2	.	nonsynonymous SNV	TRAM2:NM_012288:exon5:c.C438G:p.S146R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0595897546415	.	0.000199681	0.0001	0	0	0	0	2.998e-05	0	0.0007	9.7e-05	15	154602	rs568794165	4.173e-05	4.241e-05	1.361e-05	7.013e-05	0.0007	3.31e-05	3.001e-05	0.0005	0.0004	0	0	0	0	0	0.0007	2.698e-06	4.968e-05	0.0006	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.596	0.05703	T	0.581	0.08476	T	0.991	0.64070	D	0.906	0.64351	P	0.000000	0.84330	D	0.114120	1	0.81001	D	1.88	0.49984	L	-1.95	0.85003	D	-1.95	0.45222	N	0.462	0.49874	-0.2619	0.76036	T	0.469	0.79551	T	10	0.15779462	0.29687	T	0.05959	0.67717	D	0.444	0.74657	0.299	0.26522	0.31506500091	0.31122	0.7661321678337665	0.76562	1.50458477683	0.87103	0.591076374054	0.51646	T	0.445972	0.78879	T	-0.210195	0.19350	T	-0.163862	0.58002	T	0.282770037651062	0.24287	T	0.913309	0.69109	D	0.26815388	0.49888	0.26628467	0.52472	0.26815388	0.49887	0.26628467	0.52471	-9.844	0.72972	D	.	.	0.333	0.55403	B	.	.	4.633529	0.73696	26.0	0.9940033054567925	0.62794	0.93262	0.57749	D	AEFDBIJ	0.501573	0.53436	D	0.467334404826905	0.65194	4.79187	0.495863708039277	0.67714	5.121326	0.999995900794313	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.84	4.96	0.65153	2.204000	0.42397	5.893000	0.50786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1604:0.0:0.6721:0.1675	5.611	0.16682	900	0.24599	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	33	chr6	52509560	.	G	C	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=751;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.116;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	18	0	1	0
chr6	52757892	52757892	A	G	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.T56C:p.I19T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2714529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.00656770476761	.	.	0.0001	0	8.688e-05	0	0	2.998e-05	0	0.0008	0.0001035	16	154602	rs747060432	6.706e-05	7.935e-05	5.991e-05	7.428e-05	0.0006	5.63e-05	5.173e-05	0.0004	0.0004	0	0	7.659e-05	2.52e-05	0	0.0003	3.148e-05	0.0001	0.0006	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0006	1.26e-05	7.98e-06	0.0002	9.003e-05	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.128	0.26965	T	0.08	0.41913	T	0.027	0.19556	B	0.105	0.31087	B	0.000000	0.84330	D	0.000000	0.59003	0.32448	D	2.675	0.78361	M	3.23	0.06931	T	-3.51	0.68298	D	0.484	0.51851	-1.0393	0.17526	T	0.012	0.04653	T	10	0.25778633	0.43197	T	0.006568	0.17329	T	0.169	0.43123	0.768	0.89530	0.0716867268079	0.06686	0.373802791019622	0.37294	0.033468374923	0.03503	0.378241240978	0.22006	T	0.017718	0.14410	T	-0.465001	0.00914	T	-0.549341	0.17389	T	0.137846069396147	0.16087	T	0.654634	0.26482	T	0.4966557	0.66898	0.27781323	0.53736	0.4966557	0.66899	0.27781323	0.53735	-7.624	0.58478	D	.	.	0.466	0.62970	A	.	.	1.872924	0.23790	16.15	0.61624598306611167	0.06756	0.28739	0.23635	N	AEFDBCIJ	0.265872	0.38291	N	-1.00436705855075	0.08512	0.3994168	-1.07554643859475	0.08183	0.4012539	1.44166718235883E-4	0.05573	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-1.99	0.07047	1.570000	0.36048	0.642000	0.20329	-2.038000	0.00425	0.238000	0.24727	0.000000	0.08366	0.834000	0.39329	0.8071:0.0:0.1929:0.0	8.641	0.33140	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1189.33	95	chr6	52757892	.	A	G	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=1016;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-9.315;QD=3.76;ReadPosRankSum=-4.011;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1290:.	18	0	1	0
chr6	52757913	52757913	A	G	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.T35C:p.I12T	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00366220123888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380688899	5.474e-06	1.505e-05	4.085e-06	6.877e-06	4.475e-05	2.36e-06	1.7e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	4.498e-06	0	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.054	0.38633	T	0.121	0.35840	T	0.0	0.02946	B	0.047	0.24832	B	0.039160	0.24203	N	0.426923	0.999883	0.19853	N	1.11	0.28643	L	3.19	0.07353	T	1.25	0.01011	N	0.098	0.07949	-1.0325	0.19650	T	0.008	0.02968	T	10	0.10167682	0.18592	T	0.003662	0.08433	T	0.065	0.18881	0.599	0.72984	0.0482279557977	0.04254	0.1677529029134083	0.16695	0.0287988597592	0.02965	0.380772054195	0.22365	T	0.006244	0.05676	T	-0.487303	0.00672	T	-0.756226	0.03249	T	0.998498439788818	0.94310	D	0.451355	0.12777	T	0.16489743	0.36727	0.12937422	0.31108	0.16489743	0.36726	0.12937422	0.31107	-4.11	0.25438	T	.	.	0.367	0.57652	A	.	.	-0.702669	0.01315	0.071	0.53488997933888349	0.04950	0.05361	0.11221	N	AEDBCI	0.167760	0.29446	N	-1.56593304911493	0.01444	0.06297749	-1.73898059033453	0.00975	0.0436957	0.00478147899335476	0.10711	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-5.62	0.02284	-1.607000	0.02173	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1042:0.7593:0.1365:0.0	12.296	0.54170	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	95	chr6	52757913	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=968;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-11.05;QD=2.51;ReadPosRankSum=-5.282;SOR=0.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1290:.	18	0	1	0
chr6	52757914	52757914	T	C	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.A34G:p.I12V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00263602755969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398353969	5.474e-06	1.437e-05	4.085e-06	6.878e-06	4.475e-05	2.36e-06	1.7e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	4.498e-06	0	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.051	0.47828	T	0.0	0.02946	B	0.002	0.06944	B	0.039160	0.24203	N	0.426923	0.999988	0.18198	N	1.14	0.29013	L	3.26	0.06681	T	0.78	0.01921	N	0.034	0.00942	-0.9276	0.44487	T	0.005	0.01688	T	10	0.13636348	0.25944	T	0.002636	0.05349	T	0.051	0.14325	0.506	0.60078	0.167679373172	0.16340	0.09843696555475938	0.09774	0.018240306212	0.01780	0.372746825218	0.21225	T	0.004173	0.03581	T	-0.495006	0.00610	T	-0.767291	0.02858	T	0.0488017947459253	0.05288	T	0.667233	0.27634	T	0.14516588	0.33288	0.107254	0.25816	0.14516588	0.33288	0.107254	0.25815	-2.219	0.04133	T	.	.	0.139	0.30318	B	.	.	1.146080	0.15336	11.77	0.59695497866895042	0.06285	0.03416	0.08541	N	AEDBCI	0.145792	0.26908	N	-1.14301733465358	0.05896	0.2699907	-1.1295456302176	0.07140	0.346218	4.98053357278938E-4	0.07150	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	1.86	0.24489	1.902000	0.39479	-1.329000	0.05702	-0.327000	0.05804	0.796000	0.29669	0.000000	0.08366	0.033000	0.13494	0.0:0.8766:0.0:0.1234	8.806	0.34097	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	95	chr6	52757914	.	T	C	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=967;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-11.03;QD=2.53;ReadPosRankSum=-5.45;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1290:.	18	0	1	0
chr6	52757919	52757919	G	A	exonic	GSTA2	.	nonsynonymous SNV	GSTA2:NM_000846:exon2:c.C29T:p.S10F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00966809649333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296009657	4.79e-06	1.026e-05	4.085e-06	5.502e-06	4.475e-05	1.99e-06	1.28e-06	7.42e-06	2.78e-06	2.99e-05	4.475e-05	0	0	0	0	3.598e-06	0	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.005706	0.32572	N	0.319806	0.999791	0.20333	N	-3.64	0.00002	N	3.58	0.04594	T	4.54	0.00035	N	0.11	0.09631	-1.0130	0.25975	T	0.000	0.00114	T	10	0.026691586	0.00830	T	0.009668	0.25267	T	0.165	0.42395	0.569	0.69167	0.0666544352282	0.05500	0.2564721727467207	0.25561	0.0195091984918	0.01909	0.457134485245	0.32918	T	0.006861	0.06286	T	-0.528902	0.00390	T	-0.815979	0.01535	T	0.0528101238614547	0.05987	T	0.10299	0.00764	T	0.119881645	0.28219	0.053402666	0.08989	0.119881645	0.28219	0.053402666	0.08989	2.825	0.00025	T	.	.	0.324	0.54804	B	.	.	-1.016295	0.00748	0.023	0.38731783933997643	0.02630	0.04033	0.09471	N	AEFDBCI	0.201875	0.32851	N	-2.02052993869183	0.00191	0.008187403	-1.88428769989629	0.00526	0.02330684	0.00539344888058985	0.10925	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.81	-2.39	0.06223	0.132000	0.15716	-0.554000	0.08512	-2.735000	0.00201	0.034000	0.20669	0.000000	0.08366	0.031000	0.13245	0.5698:0.0:0.1074:0.3228	3.606	0.07587	895	0.25842	Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	391.33	95	chr6	52757919	.	G	A	391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=952;ExcessHet=0;FS=5.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.18;MQRankSum=-12.6;QD=1.54;ReadPosRankSum=-3.79;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1290:.	18	0	1	0
chr6	52896870	52896870	C	G	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon6:c.G455C:p.S152T,GSTA3:NM_000847:exon7:c.G605C:p.S202T	.	421	1087	14	0	0	14	0.00639854	.	.	.	735704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0005	0.00419329	0.0036	0.0002	0.0036	0.0001	0	0.0006	0.0022	0.0208	0.0030271	468	154602	rs149910347	0.0016	0.0016	0.0010	0.0022	0.0192	0.0015	0.0015	0.0184	0.0181	2.988e-05	0.0022	0.0057	2.519e-05	0	0.0052	0.0003	0.0018	0.0192	0.0011	0.0011	0.0007	0.0015	0.0164	0.0009	0.0009	0.0135	0.0124	0.0002	0	0.0023	0.0052	0	0	0	0.0003	0.0009	0.0164	0.026	0.49117	D	0.035	0.53788	D	0.996	0.68779	D	0.821	0.59116	P	0.000000	0.84330	D	0.000000	0.721008	0.33617	D	4.045	0.97016	H	3.8	0.03781	T	-2.83	0.59710	D	0.317	0.36148	-1.0528	0.13628	T	0.035	0.15204	T	10	0.004918754	0.00105	T	.	.	.	0.191	0.46948	.	.	0.319970858106	0.31615	0.2172488376076375	0.21640	0.0374744692565	0.03975	0.483047127724	0.36475	T	0.258356	0.62950	T	-0.473515	0.00808	T	-0.438011	0.29031	T	0.118626559516602	0.14295	T	0.974503	0.90930	D	0.69049233	0.77538	0.39724603	0.64344	0.69049233	0.77540	0.39724603	0.64344	-7.608	0.58367	D	.	.	0.259	0.54198	B	.;.	.;.	3.128571	0.42264	21.5	0.99453496129180641	0.65427	0.97502	0.75165	D	AEFBI	0.632597	0.61315	D	0.645146737021222	0.76056	6.416434	0.503221332057515	0.68208	5.18825	0.0280851422141881	0.13811	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	5.859000	0.69288	6.483000	0.55742	0.599000	0.40250	1.000000	0.71638	0.821000	0.27127	0.746000	0.35646	0.0:1.0:0.0:0.0	12.793	0.56925	499	0.76092	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.022727	0.02632	891.33	33	chr6	52896870	.	C	G	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=728;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.268;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1245	18	0	1	0
chr6	52897932	52897932	A	C	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon5:c.T289G:p.Y97D,GSTA3:NM_000847:exon6:c.T439G:p.Y147D	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.00197295037078	0.0002	0.000399361	0.0003	9.61e-05	0	0.0001	0	0.0003	0	0.0005	0.000207	32	154602	rs144126679	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	4.472e-05	0.0002	0	0	0.0014	0.0001	0.0002	0.0003	7.882e-05	7.874e-05	6.426e-05	9.404e-05	0.0008	4.495e-05	3.511e-05	0.0003	0.0002	4.813e-05	0	6.543e-05	0	0	0	0	7.352e-05	0	0.0008	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.951	0.68939	D	0.000277	0.46590	D	0.148621	0.913761	0.36482	D	4.125	0.97446	H	3.05	0.08721	T	-7.87	0.96114	D	0.846	0.84401	-1.0435	0.16265	T	0.057	0.24018	T	10	0.60240614	0.66986	D	0.001973	0.03535	T	0.243	0.54921	.	.	0.378148810121	0.37422	0.5544063550790178	0.55367	0.309725696324	0.33285	0.512154340744	0.40523	T	0.319616	0.69089	T	-0.0718151	0.41035	T	-0.0247778	0.68714	D	0.90221381187439	0.55512	D	0.60194	0.23293	T	0.94960755	0.96226	0.9170829	0.96192	0.94960755	0.96226	0.9170829	0.96192	-13.702	0.92048	D	.	.	0.717	0.76277	P	.;.	.;.	4.532902	0.71174	25.6	0.99082462317059838	0.52002	0.94431	0.61144	D	AEFBI	0.416587	0.48498	N	0.442604590328218	0.63783	4.619001	0.234393847534569	0.51765	3.356355	1.97572822800814E-5	0.02871	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.91	2.73	0.31266	4.657000	0.61185	5.815000	0.50038	0.756000	0.94297	0.990000	0.36992	0.593000	0.25680	0.462000	0.28163	0.9088:0.0:0.0912:0.0	9.043	0.35492	503	0.75780	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	2753.33	33	chr6	52897932	.	A	C	2753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=874;ExcessHet=0;FS=2.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.254;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr6	54940064	54940064	A	G	exonic	FAM83B	.	nonsynonymous SNV	FAM83B:NM_001010872:exon5:c.A1093G:p.N365D	.	430	1086	5	1	0	7	0.00321248	.	.	.	3665768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.008472026032	7.7e-05	.	2.496e-05	0.0002	0	0	0	0	0.0011	0	1.94e-05	3	154602	rs139474742	4.789e-06	4.788e-06	2.723e-06	6.876e-06	0.0002	1.99e-06	1.28e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0.0002	1.799e-06	1.656e-05	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0001	1.261e-05	7.98e-06	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.045	0.40832	D	0.551	0.09393	T	0.421	0.35387	B	0.08	0.28873	B	0.000129	0.49741	D	0.142257	0.952624	0.26432	N	2.52	0.73523	M	3.22	0.07024	T	-0.39	0.13611	N	0.324	0.36464	-0.9838	0.34116	T	0.009	0.03315	T	10	0.13427216	0.25555	T	0.008472	0.22407	T	0.128	0.35103	.	.	0.37568098594	0.37176	0.36733234653772645	0.36647	0.0744127489113	0.08345	0.541538238525	0.44663	T	0.020545	0.16160	T	-0.480727	0.00732	T	-0.648872	0.09033	T	0.290938168764114	0.24629	T	0.70043	0.31009	T	0.09511466	0.22377	0.13713032	0.32787	0.09511466	0.22377	0.13713032	0.32786	-2.793	0.08119	T	.	.	0.148	0.32733	B	.	.	2.779746	0.36511	20.3	0.98748425131403939	0.45618	0.81137	0.40605	D	AEFBI	0.117004	0.22940	N	-0.0787106768524388	0.38328	2.243092	-0.00706160525319983	0.39395	2.335157	0.171788352992053	0.17746	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	2.915000	0.48503	8.054000	0.76369	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.7992:0.0:0.2008:0.0	7.852	0.28620	760	0.50470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3581.33	44	chr6	54940064	.	A	G	3581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=936;ExcessHet=0;FS=0.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.32;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	18	0	1	0
chr6	56463060	56463060	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon82:c.G15115A:p.V5039M,DST:NM_183380:exon92:c.G16093A:p.V5365M,DST:NM_001144770:exon93:c.G16213A:p.V5405M,DST:NM_001144769:exon95:c.G16627A:p.V5543M,DST:NM_001374722:exon101:c.G22984A:p.V7662M,DST:NM_001374734:exon101:c.G23011A:p.V7671M,DST:NM_001374736:exon102:c.G23056A:p.V7686M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	635013	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00355669701756	.	.	5.834e-05	0	0	0	0	7.515e-05	0	0.0001	4.53e-05	7	154602	rs774799170	1.441e-05	1.915e-05	1.229e-05	1.655e-05	7.001e-05	9.26e-06	7.86e-06	3.011e-05	2.048e-05	2.999e-05	0	0	0	0	0	1.172e-05	1.661e-05	7.001e-05	3.288e-05	3.284e-05	1.286e-05	5.384e-05	7.249e-05	1.262e-05	7.99e-06	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	2.94e-05	0	0	0.126	0.48186	T	.	.	.	0.029	0.19866	B	0.021	0.19346	B	.	.	.	.	.	.	.	.	.	.	1.21	0.62318	T	-0.44	0.42763	N	0.199	0.26354	-1.0596	0.11855	T	0.022	0.09284	T	8	0.12675413	0.24100	T	0.003557	0.08123	T	0.036	0.09122	0.331	0.31681	0.521601789199	0.51804	0.18721921032867245	0.18639	0.477105544742	0.46828	0.474133640528	0.35249	T	.	.	.	-0.316887	0.07156	T	-0.488412	0.23558	T	0.146956504908546	0.16858	T	0.814119	0.46793	T	.	.	.	.	.	.	.	.	-4.839	0.35042	T	.	.	.	.	.	.;.;.	.;.;.	2.541744	0.32879	19.17	0.81926581531512643	0.13930	0.95797	0.66195	D	AEFBI	0.469228	0.51570	N	-0.104253315166442	0.37206	2.161394	0.0677670659886848	0.42938	2.606149	0.246355768357258	0.18630	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.79	4.93	0.64394	2.162000	0.41994	2.744000	0.34485	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7995:0.1312:0.0693	10.644	0.44799	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1664.33	35	chr6	56463060	.	C	T	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=792;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-2.322;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	18	0	1	0
chr6	56494012	56494012	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon64:c.A12523G:p.K4175E,DST:NM_001374730:exon73:c.A13174G:p.K4392E,DST:NM_183380:exon74:c.A13501G:p.K4501E,DST:NM_001144770:exon75:c.A13621G:p.K4541E,DST:NM_001144769:exon77:c.A14035G:p.K4679E,DST:NM_001374729:exon78:c.A19432G:p.K6478E,DST:NM_001374722:exon83:c.A20392G:p.K6798E,DST:NM_001374734:exon83:c.A20419G:p.K6807E,DST:NM_001374736:exon83:c.A20392G:p.K6798E	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	15	1502	4	1	0	6	0.00199336	0.7613	0.464	.	954570	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.0072208139392	.	0.000399361	0.0001	0.0001	8.857e-05	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs560268832	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.964e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0005	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.715e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0002	0.03	0.55530	D	.	.	.	0.863	0.47474	P	0.53	0.48544	P	0.000017	0.62929	D	0.000000	.	.	.	.	.	.	0.71	0.51228	T	-3.66	0.71397	D	0.853	0.87157	-0.8027	0.54985	T	0.203	0.56101	T	9	0.4870381	0.60770	T	0.007221	0.19143	T	0.264	0.57741	.	.	0.663738440163	0.66091	0.35253684350758935	0.35167	0.654754854923	0.58542	0.598420202732	0.52681	T	0.067923	0.33326	T	-0.0619279	0.42606	T	-0.00672192	0.69898	D	0.386528879404068	0.28432	T	0.976802	0.93989	D	.	.	.	.	.	.	.	.	-11.223	0.80867	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.820908	0.55171	23.6	0.99073008827528086	0.51762	0.98642	0.85044	D	AEFBI	0.925971	0.90635	D	0.681193063905235	0.78401	6.864013	0.705328904161284	0.82785	7.853415	0.999999976437788	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	7.207000	0.77409	7.843000	0.70613	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.281	0.82505	160	0.93798	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1017.33	34	chr6	56494012	.	T	C	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.356;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr6	56561475	56561475	T	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon38:c.A6274C:p.K2092Q,DST:NM_001374730:exon48:c.A7252C:p.K2418Q,DST:NM_183380:exon48:c.A7252C:p.K2418Q,DST:NM_001144770:exon49:c.A7372C:p.K2458Q,DST:NM_001144769:exon51:c.A7786C:p.K2596Q,DST:NM_001374729:exon53:c.A13510C:p.K4504Q,DST:NM_001374722:exon57:c.A14143C:p.K4715Q,DST:NM_001374734:exon57:c.A14170C:p.K4724Q,DST:NM_001374736:exon57:c.A14143C:p.K4715Q	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.00905923224337	.	.	2.486e-05	0	0	0	0	4.498e-05	0	0	1.94e-05	3	154602	rs756052997	7.526e-06	7.524e-06	6.807e-06	8.252e-06	8.995e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	1.656e-05	0	6.568e-06	6.566e-06	0	1.344e-05	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.006	0.63226	D	.	.	.	0.523	0.37559	P	0.433	0.45477	B	0.000035	0.55875	D	0.000000	.	.	.	.	.	.	1.31	0.35405	T	-2.52	0.57110	D	0.477	0.51226	-0.8581	0.51398	T	0.163	0.49963	T	9	0.25423393	0.42800	T	0.009059	0.23845	T	0.197	0.47942	.	.	0.441718965978	0.43790	0.41809512000533877	0.41725	0.538655686265	0.51116	0.446060478687	0.31406	T	0.054	0.29487	T	-0.170981	0.25086	T	-0.375722	0.36222	T	0.749819278717041	0.43275	D	0.887111	0.81072	D	.	.	.	.	.	.	.	.	-6.14	0.47436	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.708985	0.52937	23.3	0.98607546444886118	0.43598	0.87878	0.47572	D	AEFGBI	0.486682	0.52575	N	0.566410143235589	0.71087	5.597906	0.627838102392839	0.76968	6.590108	0.999998392906013	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.043000	0.64012	7.934000	0.75174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.822	0.85699	212	0.91760	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	33	chr6	56561475	.	T	G	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.183;DP=758;ExcessHet=0;FS=2.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.858;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	18	0	1	0
chr6	56572920	56572920	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon33:c.G5512A:p.A1838T,DST:NM_001374730:exon43:c.G6490A:p.A2164T,DST:NM_183380:exon43:c.G6490A:p.A2164T,DST:NM_001144770:exon44:c.G6610A:p.A2204T,DST:NM_001144769:exon46:c.G7024A:p.A2342T,DST:NM_001374729:exon48:c.G12748A:p.A4250T,DST:NM_001374722:exon52:c.G13381A:p.A4461T,DST:NM_001374734:exon52:c.G13408A:p.A4470T,DST:NM_001374736:exon52:c.G13381A:p.A4461T	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00577109827574	.	.	8.912e-06	0	0	0	0	1.615e-05	0	0	6.5e-06	1	154602	rs746788099	5.475e-06	5.472e-06	5.447e-06	5.504e-06	4.498e-06	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	4.973e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29158	T	.	.	.	0.934	0.52202	P	0.808	0.58514	P	0.000137	0.49741	D	0.000000	.	.	.	.	.	.	1.37	0.34253	T	-2.67	0.58248	D	0.764	0.76203	-0.8647	0.50922	T	0.186	0.53511	T	9	0.38958645	0.54793	T	0.005771	0.14982	T	0.131	0.35738	.	.	0.537366646314	0.53388	0.2743547010304287	0.27348	0.542912261021	0.51382	0.524302959442	0.42233	T	0.034175	0.23218	T	-0.0209522	0.48717	T	-0.204227	0.54245	T	0.857858419418335	0.50857	D	0.956704	0.84269	D	.	.	.	.	.	.	.	.	-3.155	0.13126	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.806600	0.54877	23.5	0.99709047605264078	0.81213	0.94560	0.61563	D	AEFGBCI	0.731095	0.67828	D	0.728441732375221	0.81496	7.53605	0.729045263660068	0.84585	8.33288	0.999999972795849	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.608000	0.67336	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:1.0:0.0:0.0	20.017	0.97484	223	0.91367	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1586.33	34	chr6	56572920	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.718;DP=740;ExcessHet=0;FS=4.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.413;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr6	56609241	56609241	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G4754A:p.R1585K,DST:NM_001374722:exon40:c.G5387A:p.R1796K,DST:NM_001374734:exon40:c.G5414A:p.R1805K,DST:NM_001374736:exon40:c.G5387A:p.R1796K	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0184331270983	.	.	5.799e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs199965129	5.542e-05	5.541e-05	3.132e-05	7.978e-05	0.0009	4.544e-05	4.156e-05	0.0007	0.0006	0	0	0	0	0	0.0002	1.799e-06	6.626e-05	0.0009	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.51	0.43393	T	0.02	0.58613	D	0.699	0.41837	P	0.306	0.41250	B	0.000032	0.55875	D	0.000000	.	.	.	.	.	.	-1.2	0.78537	T	-0.7	0.32791	N	0.499	0.53181	-0.8553	0.51599	T	0.186	0.53511	T	8	0.111664504	0.20918	T	0.018433	0.40491	T	0.298	0.61843	.	.	0.661817716864	0.65898	.	.	.	.	.	.	.	0.038932	0.25016	T	-0.239277	0.15442	T	-0.198265	0.54810	T	0.0828739429402372	0.10350	T	0.837416	0.52967	T	.	.	.	.	.	.	.	.	-4.79	0.34475	T	.	.	.	.	.	.;.	.;.	3.153925	0.42703	21.6	0.9894734224699433	0.49055	0.93546	0.58512	D	AEFGBI	0.354898	0.44682	N	0.0967808855583251	0.46312	2.873529	0.154609491042607	0.47388	2.969665	0.701839186375844	0.22709	0.706548	0.73137	0	0.546412	0.12157	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.6	3.8	0.42887	1.986000	0.40299	4.063000	0.41603	0.599000	0.40250	0.937000	0.32526	1.000000	0.68203	0.984000	0.60418	0.0:0.732:0.1285:0.1395	8.437	0.31956	256	0.89942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	40	chr6	56609241	.	C	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=858;ExcessHet=0;FS=4.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.123;SOR=1.181	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr6	56618125	56618125	A	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon23:c.T5909C:p.F1970S	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	308288	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00299521	0.0048	0.0005	0.0014	0	0.0024	0.0056	0.0044	0.0103	0.0045278	700	154602	rs141573097	0.0045	0.0045	0.0043	0.0047	0.0108	0.0044	0.0044	0.0102	0.0100	0.0006	0.0010	0.0007	2.519e-05	0.0034	0.0076	0.0046	0.0037	0.0108	0.0030	0.0030	0.0032	0.0028	0.0120	0.0028	0.0027	0.0096	0.0087	0.0007	0	0.0007	0.0009	0	0.0021	0.0034	0.0049	0.0019	0.0120	0.13	0.26740	T	0.407	0.14679	T	0.99	0.63424	D	0.858	0.61127	P	.	.	.	.	.	.	.	.	.	.	1.39	0.33842	T	-0.17	0.09627	N	0.679	0.68603	-1.0615	0.11385	T	0.086	0.33298	T	7	0.009896845	0.00222	T	.	.	.	0.172	0.43662	.	.	0.547936802839	0.54449	.	.	.	.	.	.	.	.	.	.	-0.479882	0.00740	T	-0.452698	0.27398	T	0.0369915285635896	0.03154	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-2.129	0.03710	T	.	.	0.691	0.72581	P	.	.	3.190999	0.43354	21.7	0.99826548449264196	0.90852	0.95429	0.64685	D	AEFDBHCI	0.866895	0.78646	D	0.499655924641192	0.67070	5.032908	0.534680830707506	0.70339	5.490656	0.999999938283919	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.596874	0.31795	0	0.755437	0.99637	0	.	.	5.49	5.49	0.81022	4.382000	0.59360	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.586	0.76226	299	0.88026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.006793	0.020468	0.000000	0.008621	0.009146	0.003788	0.02632	1942.33	33	chr6	56618125	.	A	G	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.883;DP=1436;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.024;SOR=0.587	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr6	56992391	56992391	C	T	exonic	BEND6	.	nonsynonymous SNV	BEND6:NM_001318539:exon3:c.C134T:p.S45L,BEND6:NM_152731:exon3:c.C134T:p.S45L	.	435	1081	5	1	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.00767949494686	0.0003	0.00119808	0.0008	0.0002	0.0005	0	0	0.0010	0.0022	0.0010	0.000815	126	154602	rs148443947	0.0007	0.0007	0.0007	0.0008	0.0129	0.0007	0.0007	0.0105	0.0097	0.0003	0.0006	0	0	1.875e-05	0.0129	0.0008	0.0009	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0003	0.0005	0.0005	9.626e-05	0	0.0007	0	0	0	0.0068	0.0007	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.953	0.69275	D	0.000151	0.49130	D	0.000000	0.791609	0.34394	D	0.975	0.24501	L	.	.	.	-4.93	0.81755	D	0.705	0.70878	-0.6659	0.62013	T	0.196	0.55100	T	9	0.05468899	0.05863	T	0.007679	0.20378	T	0.209	0.49871	.	.	0.339793275041	0.33585	0.5619736486848813	0.56124	0.543278013511	0.51408	0.514629602432	0.40871	T	0.169957	0.51753	T	0.0380821	0.56794	T	0.225578	0.84454	D	0.0815516341902565	0.10185	T	0.939406	0.77188	D	0.2195903	0.44495	0.23824131	0.49141	0.2195903	0.44495	0.23824131	0.49140	-3.765	0.20282	T	.	.	0.200	0.42419	B	.;.;.	.;.;.	4.543590	0.71441	25.7	0.99892266710556354	0.96589	0.87917	0.47625	D	AEFI	0.482777	0.52350	N	0.472540568157499	0.65493	4.829409	0.45858294373591	0.65270	4.802634	0.999999990326865	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	4.419000	0.59586	4.747000	0.44638	0.599000	0.40250	0.981000	0.35396	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	15.694	0.77235	225	0.91282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.015152	0.016304	0.005848	0.000000	0.000000	0.006098	0.015152	0.02632	495.33	34	chr6	56992391	.	C	T	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.636;DP=635;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.159;SOR=1.14	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	18	0	1	0
chr6	63778108	63778108	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon40:c.A7796G:p.H2599R,EYS:NM_001292009:exon40:c.A7796G:p.H2599R	Retinitis pigmentosa 25	0	1508	13	1	0	15	0.00494886	.	.	.	438326	not_provided|Retinitis_pigmentosa_25|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	.	0.0079	0.00459265	0.0068	0.0018	0.0024	0	0.0037	0.0082	0	0.0082	0.0019857	307	154602	rs74636274	0.0082	0.0079	0.0084	0.0081	0.0095	0.0081	0.0081	0.0093	0.0093	0.0014	0.0038	0.0013	5.597e-05	0.0026	0.0039	0.0095	0.0055	0.0078	0.0058	0.0058	0.0062	0.0053	0.0093	0.0054	0.0053	0.0087	0.0085	0.0015	0	0.0075	0.0009	0	0.0019	0.0034	0.0093	0.0052	0.0060	0.005	0.63226	D	0.037	0.51737	D	0.087	0.24971	B	0.029	0.21540	B	0.072010	0.21436	N	0.285145	0.999343	0.21331	N	0.92	0.23413	L	-1.52	0.81478	D	-2.26	0.50502	N	0.153	0.15749	-1.0855	0.06316	T	0.036	0.15465	T	10	0.0058834553	0.00132	T	.	.	.	0.119	0.33137	.	.	0.345405024496	0.34151	0.41332976369758667	0.41248	0.0097119950357	0.00885	0.4694917202	0.34610	T	0.033852	0.23084	T	-0.381968	0.03028	T	-0.313486	0.43283	T	0.0200093719752599	0.00702	T	0.573243	0.20505	T	0.11788116	0.27783	0.13753471	0.32870	0.109312065	0.25844	0.1497496	0.35345	-7.51	0.60797	D	0.14717333319769071	0.17034	0.088	0.11893	B	.;.	.;.	1.688403	0.21515	15.23	0.93350850016474618	0.23085	0.67545	0.33472	D	AEFBI	0.101609	0.20403	N	-0.459802705925618	0.23408	1.256894	-0.48992454941763	0.22429	1.218247	0.00732365359616575	0.11439	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.02	1.47	0.21832	1.047000	0.29976	-0.581000	0.08376	0.665000	0.62972	1.000000	0.71638	0.437000	0.24884	0.038000	0.14061	0.0:0.1867:0.0:0.8133	7.154	0.24805	784	0.47045	.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003741	0.000000	0.000000	0.000000	0.000000	0.000000	0.017647	0.000000	0.02632	654.33	39	chr6	63778108	.	T	C	654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=691;ExcessHet=0;FS=13.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.307;SOR=2.226	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	18	0	1	0
chr6	64591956	64591956	A	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon26:c.T3911C:p.I1304T,EYS:NM_001292009:exon26:c.T3911C:p.I1304T	Retinitis pigmentosa 25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0320239220772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.232	0.25362	T	0.372	0.34134	B	0.083	0.29179	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-1.64	0.82533	D	-0.34	0.14978	N	0.073	0.09207	-1.0188	0.24106	T	0.110	0.39747	T	9	0.08603218	0.14583	T	0.032024	0.53962	D	0.151	0.39764	0.562	0.68229	0.343334270461	0.33943	0.030123628360211593	0.02961	0.0097119950357	0.00885	0.262182593346	0.05153	T	0.041633	0.25923	T	-0.133813	0.30879	T	-0.42999	0.29937	T	0.109058275818825	0.13326	T	0.462454	0.13421	T	0.06279022	0.13153	0.07086316	0.15107	0.06279022	0.13152	0.07086316	0.15107	-3.847	0.21508	T	0.1217086793029826	0.11580	0.208	0.43544	B	.;.	.;.	0.817296	0.11882	8.449	0.95778722969692742	0.27796	0.06306	0.12301	N	AEFDI	0.066436	0.13009	N	-0.853039620679062	0.11975	0.5809884	-0.863112745516713	0.12973	0.6704063	1.71921246775635E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	0.622	0.16822	0.435000	0.21228	1.014000	0.23354	0.754000	0.88378	0.049000	0.21372	0.000000	0.08366	0.354000	0.25750	0.4656:0.1328:0.1453:0.2563	0.821	0.01040	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1553.33	43	chr6	64591956	.	A	G	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.498;DP=969;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.985;SOR=0.599	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	64945865	64945865	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon15:c.A2309C:p.Q770P,EYS:NM_001292009:exon15:c.A2309C:p.Q770P	Retinitis pigmentosa 25	2	1498	21	1	0	23	0.00761842	.	.	YES	99508	not_provided|Retinitis_pigmentosa_25|EYS-related_disorder|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.156062011435	.	0.00159744	0.0030	0	0.0073	0	0	0.0005	0	0.0067	0.0004916	76	154602	rs398123574	0.0006	0.0005	0.0004	0.0008	0.0062	0.0005	0.0005	0.0057	0.0055	0.0002	0.0003	0.0003	2.809e-05	2.031e-05	0.0037	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	0.0004	0.0009	0.0079	0.348	0.12386	T	0.081	0.43159	T	0.994	0.66517	D	0.737	0.55577	P	.	.	.	.	0.998745	0.21941	N	1.5	0.37844	L	-2.05	0.86216	D	-1.51	0.36787	N	0.376	0.41754	-0.1664	0.78515	T	0.499	0.81048	T	9	0.007982731	0.00181	T	0.156062	0.83689	D	0.344	0.66582	.	.	0.535439087667	0.53195	0.972809422957025	0.97269	0.0159416971316	0.01523	0.257191330194	0.04562	T	0.026495	0.19595	T	-0.297945	0.08855	T	-0.198419	0.54796	T	0.0266984907649297	0.01503	T	0.441756	0.12241	T	0.222128	0.44805	0.23040426	0.48142	0.2326741	0.46059	0.2054426	0.44713	-8.491	0.64370	D	0.6818919307570994	0.75840	0.353	0.56793	A	.;.	.;.	2.881389	0.38135	20.7	0.93232170797979319	0.22914	0.89096	0.49359	D	AEFI	0.414808	0.48392	N	0.0678100956216895	0.44965	2.761136	-0.0335103225406271	0.38212	2.248075	2.38709261326093E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.12	0.34986	1.514000	0.35441	1.516000	0.27058	0.574000	0.29054	0.999000	0.42656	0.008000	0.19753	0.934000	0.47231	0.0:0.1035:0.0:0.8965	7.723	0.27908	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003106	0.000000	0.000000	0.009615	0.000000	0.000000	0.000000	0.000000	0.02632	1260.33	37	chr6	64945865	.	T	G	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=752;ExcessHet=0;FS=3.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.874;SOR=1.01	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	18	0	1	0
chr6	65303146	65303146	T	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.T625C:p.C209R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.195e-06	1.48e-06	0	6.057e-06	3.347e-05	5.3e-07	2e-07	5.55e-06	2.08e-06	0	0	0	0	0	0	0	0	3.347e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	569.33	25	chr6	65303146	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.137;DP=701;ExcessHet=0;FS=1.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.81;MQRankSum=-0.18;QD=10.17;ReadPosRankSum=0.124;SOR=0.982	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1471	18	0	1	0
chr6	65303834	65303834	G	A	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.G1313A:p.S438N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422370948	5.913e-06	3.475e-06	1.274e-05	0	3.757e-05	1.57e-06	4.4e-07	6.23e-06	2.33e-06	0	0	0	0	0	0	3.286e-06	0	3.757e-05	1.145e-05	2.023e-05	2.143e-05	0	2.255e-05	0	0	.	.	0	0	0	0	0	0	0	2.255e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	177.33	14	chr6	65303834	.	G	A	177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.656;DP=379;ExcessHet=0;FS=4.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=8.44;ReadPosRankSum=0.399;SOR=0.078	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,921	18	0	1	0
chr6	65304106	65304106	G	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.G1585C:p.V529L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.744e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.53	34	chr6	65304106	.	G	C	42.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.457;DP=1303;ExcessHet=0;FS=80.407;InbreedingCoeff=-0.0382;MLEAC=1;MLEAF=0.026;MQ=34.9;MQRankSum=1.29;QD=0.38;ReadPosRankSum=-0.119;SOR=6.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	18	0	1	0
chr6	69361426	69361426	A	C	exonic	ADGRB3	.	nonsynonymous SNV	ADGRB3:NM_001704:exon29:c.A4153C:p.K1385Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0153692702956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420181695	2.053e-06	2.052e-06	0	4.128e-06	2.52e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	0	0	2.319e-05	6.581e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.474	0.12878	T	0.552	0.12597	T	0.058	0.22967	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	0.999977	0.58761	D	.	.	.	3.19	0.07353	T	-0.76	0.24244	N	0.732	0.78356	-1.0470	0.15246	T	0.030	0.12760	T	10	0.4570884	0.59056	T	0.015369	0.36062	T	0.250	0.55888	0.218	0.13932	0.043077524339	0.03247	0.2903169824975385	0.28944	0.133698553971	0.15057	0.859260678291	0.91002	D	0.040752	0.25632	T	-0.208047	0.19654	T	-0.367494	0.37182	T	0.419867992401123	0.29686	T	0.963604	0.86445	D	0.28465393	0.51491	0.27794838	0.53751	0.28465393	0.51491	0.27794838	0.53750	-3.074	0.11000	T	.	.	0.327	0.68743	B	.;.;.	.;.;.	3.744823	0.53647	23.4	0.9436714235090593	0.24730	0.98829	0.87402	D	AEFI	0.934648	0.92833	D	0.404517951327582	0.61670	4.371264	0.524449121741357	0.69640	5.389252	0.991783047732527	0.32608	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	8.947000	0.92735	11.170000	0.87939	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.197	0.81846	630	0.65016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1946.33	43	chr6	69361426	.	A	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=908;ExcessHet=0;FS=2.468;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-2.156;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	18	0	1	0
chr6	70149995	70149995	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon30:c.G1987A:p.V663I	.	326	1193	3	0	0	3	0.00125576	.	.	.	2375915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.00390428766847	0.0002	0.000199681	0.0002	0	0.0003	0	0.0002	0.0002	0.0011	6.057e-05	0.0001552	24	154602	rs374739394	0.0002	0.0002	0.0001	0.0002	0.0076	0.0001	0.0001	0.0059	0.0052	0.0003	0.0002	0	2.519e-05	1.872e-05	0.0076	0.0001	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	7.22e-05	0	0.0001	0	0	0.0002	0.0068	0.0002	0.0005	0.0002	.	.	.	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	0.049023	0.23198	N	0.451844	0.999903	0.21317	N	0.77	0.19370	N	.	.	.	.	.	.	0.286	0.32370	-0.6813	0.61312	T	0.342	0.70729	T	10	0.053973645	0.05674	T	0.003904	0.09180	T	.	.	.	.	0.510113526977	0.50651	0.1255750887274636	0.12483	.	.	0.310839295387	0.12033	T	0.28608	0.65887	T	-0.525218	0.00410	T	-0.647278	0.09146	T	0.024486644904682	0.01206	T	0.918808	0.70803	D	0.034318022	0.03828	0.046936072	0.06651	0.034318022	0.03828	0.046936072	0.06651	-3.683	0.19067	T	.	.	0.068	0.02670	B	.	.	1.281749	0.16815	12.78	0.89055230141566777	0.18473	0.59777	0.31009	D	AEFDBI	0.130515	0.24909	N	-0.412278269784927	0.25037	1.356259	-0.215055087297381	0.30995	1.750085	0.00563786042245497	0.10999	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	4.23	0.49319	0.008000	0.13095	2.446000	0.32792	0.676000	0.76740	0.373000	0.25949	1.000000	0.68203	0.967000	0.53440	0.1883:0.0:0.5133:0.2984	4.402	0.10819	722	0.55239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	881.33	51	chr6	70149995	.	G	A	881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=670;ExcessHet=0;FS=6.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=-1.361;SOR=1.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	70163382	70163382	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon36:c.G2386A:p.A796T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0059062371744	0.0002	0.00179712	0.0014	0.0001	0.0005	0	0	0.0003	0	0.0088	0.0011061	171	154602	rs147345076	0.0007	0.0007	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0084	0	8.957e-05	0	2.539e-05	0	0.0035	0.0002	0.0009	0.0091	0.0004	0.0004	0.0003	0.0004	0.0077	0.0003	0.0003	0.0057	0.0050	2.406e-05	0	0	0	0	0	0	0.0002	0.0009	0.0077	.	.	.	0.557	0.09205	T	0.001	0.07471	B	0.007	0.12992	B	0.044833	0.23598	N	0.447995	0.969344	0.27507	N	1.605	0.40863	L	.	.	.	.	.	.	0.103	0.08646	-0.7064	0.60130	T	0.371	0.73016	T	10	0.008828789	0.00200	T	0.005906	0.15371	T	.	.	.	.	0.560605342602	0.55722	0.0953775236832185	0.09469	.	.	0.280119299889	0.07509	T	0.383421	0.74528	T	-0.553949	0.00276	T	-0.563218	0.16076	T	0.0231828349635425	0.01045	T	0.912309	0.68816	D	0.030584447	0.02747	0.040373493	0.04349	0.030584447	0.02747	0.040373493	0.04349	-4.345	0.28802	T	.	.	0.065	0.02012	B	.	.	1.290775	0.16917	12.84	0.90337530306901503	0.19602	0.28940	0.23689	N	AEFBCI	0.093893	0.18991	N	-0.556364358552131	0.20284	1.068209	-0.422872475246663	0.24328	1.331563	0.999742977020564	0.42466	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	2.1	0.26226	-0.387000	0.07419	0.454000	0.18551	0.676000	0.76740	0.543000	0.27291	0.033000	0.21346	0.991000	0.66497	0.3422:0.0:0.4428:0.215	4.612	0.11794	742	0.52873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1024.33	34	chr6	70163382	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.401;DP=748;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.968;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P,COL9A1:NM_001377289:exon29:c.G1460C:p.R487P,COL9A1:NM_001851:exon34:c.G2159C:p.R720P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	41	chr6	70234894	.	C	G	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.346;DP=831;ExcessHet=0;FS=75.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.724;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1354:.	18	0	1	0
chr6	73225327	73225327	T	C	exonic	KHDC1L	.	nonsynonymous SNV	KHDC1L:NM_001126063:exon1:c.A82G:p.M28V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00260888141687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327464276	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.05534	T	0.54	0.09760	T	0.452	0.36118	B	0.455	0.46267	P	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.82	0.48142	T	-1.18	0.30140	N	0.264	0.29889	-0.9555	0.40006	T	0.052	0.22192	T	9	0.068274975	0.09633	T	0.002609	0.05292	T	0.126	0.34673	0.39	0.41279	0.0138822411134	0.00435	0.035720465957823785	0.03519	0.0437651188102	0.04714	0.298065692186	0.10114	T	0.010756	0.09680	T	-0.246287	0.14557	T	-0.59155	0.13532	T	0.15107609445119	0.17188	T	0.725427	0.33942	T	0.041945316	0.06271	0.066792145	0.13731	0.041945316	0.06271	0.066792145	0.13730	-1.416	0.01601	T	.	.	0.168	0.37005	B	.	.	0.907978	0.12825	9.337	0.63304835862707887	0.07189	0.00803	0.03267	N	AEFBI	0.025365	0.01725	N	-0.891685196356755	0.11039	0.5306298	-1.11713816619095	0.07372	0.3583625	6.5152037838093E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.91	-3.06	0.05053	0.191000	0.16883	-0.190000	0.11047	0.498000	0.22619	0.009000	0.18154	0.000000	0.08366	0.296000	0.24405	0.24:0.1754:0.2433:0.3414	0.121	0.00060	854	0.34840	KH-like RNA-binding domain|KH-like RNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2212.33	33	chr6	73225327	.	T	C	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=827;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.583;SOR=0.823	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	73405806	73405806	G	T	exonic	DDX43	.	nonsynonymous SNV	DDX43:NM_018665:exon6:c.G778T:p.A260S	.	433	1087	2	0	0	2	0.000919118	.	.	.	3662196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00427441564945	.	0.000199681	0.0001	0	0.0004	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs529409917	6.704e-05	6.772e-05	6.126e-05	7.289e-05	0.0005	5.629e-05	5.172e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	5.576e-05	4.968e-05	0.0002	7.226e-05	7.219e-05	5.141e-05	9.405e-05	0.0004	3.97e-05	3.127e-05	7.301e-05	4.24e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.17	0.22833	T	0.772	0.04446	T	0.001	0.07471	B	0.009	0.14300	B	0.049095	0.23192	N	0.452597	1	0.81001	D	1.595	0.40691	L	2.41	0.15492	T	-1.05	0.27463	N	0.156	0.16168	-1.0163	0.24916	T	0.011	0.04321	T	10	0.03049305	0.01176	T	0.004274	0.10341	T	0.032	0.07718	0.347	0.34274	0.291694819147	0.28783	0.30813369900754634	0.30726	0.312351523902	0.33537	0.290030956268	0.08927	T	0.001926	0.01337	T	-0.5283	0.00393	T	-0.674677	0.07313	T	0.047419723123312	0.05040	T	0.625537	0.24174	T	0.055122156	0.10670	0.053388685	0.08982	0.055122156	0.10670	0.053388685	0.08982	-5.558	0.42407	T	.	.	0.099	0.16800	B	.	.	2.756633	0.36146	20.2	0.87583800281187263	0.17333	0.93312	0.57880	D	AEFI	0.371112	0.45724	N	-0.467182541104635	0.23162	1.241856	-0.305502329471039	0.27920	1.552803	1.44773910548827E-4	0.05573	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.18	3.38	0.37806	3.719000	0.54654	5.786000	0.49836	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1623:0.0:0.5318:0.3058	4.717	0.12281	870	0.31527	RNA helicase, DEAD-box type, Q motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	779.33	33	chr6	73405806	.	G	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=689;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.472;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr6	73452132	73452132	G	C	exonic	CGAS	.	nonsynonymous SNV	CGAS:NM_138441:exon1:c.C50G:p.A17G	.	421	1094	7	0	0	7	0.00318907	.	.	.	699649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00684519550801	0.0042	0.00159744	0.0060	0.0011	0.0018	0	0.0026	0.0093	0.0019	0.0029	0.0041591	643	154602	rs147035222	0.0059	0.0059	0.0060	0.0058	0.0071	0.0058	0.0058	0.0070	0.0070	0.0009	0.0023	0.0002	0	0.0019	0.0011	0.0071	0.0041	0.0022	0.0045	0.0045	0.0048	0.0041	0.0073	0.0042	0.0041	0.0068	0.0066	0.0013	0.0252	0.0041	0.0006	0	0.0021	0	0.0073	0.0047	0.0017	0.25	0.17126	T	0.56	0.09863	T	0.014	0.16867	B	0.004	0.10090	B	0.482463	0.04989	N	1.432470	1	0.08975	N	1.67	0.42885	L	1.07	0.39586	T	-0.6	0.18459	N	0.099	0.08786	-1.0117	0.26385	T	0.028	0.11882	T	10	0.004272878	0.00086	T	0.006845	0.18093	T	0.005	0.00259	.	.	0.0762999501168	0.06990	0.10967838492646804	0.10896	0.450271417464	0.44793	0.434239864349	0.29788	T	0.013292	0.11527	T	-0.576313	0.00203	T	-0.596885	0.13074	T	0.00350563221991704	0.00037	T	0.562144	0.19728	T	0.09623592	0.22664	0.08005401	0.18075	0.09623592	0.22663	0.08005401	0.18075	-3.701	0.19688	T	.	.	0.096	0.15385	B	.;.	.;.	0.992468	0.13703	10.25	0.9311984609042846	0.22755	0.01811	0.05641	N	ALL	0.030426	0.03061	N	-1.09364496241122	0.06759	0.3120952	-1.16168313733487	0.06561	0.3161816	0.999999754903966	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.75	-1.12	0.09306	0.866000	0.27608	1.159000	0.24539	0.526000	0.24426	0.002000	0.15269	0.001000	0.17328	0.009000	0.08673	0.0:0.3465:0.3014:0.352	5.928	0.18362	910	0.22284	.;.	EIF3EP1|EEF1A1|EIF3EP1|KHDC1|KHDC1|EIF3EP1|KHDC1L|EIF3EP1|RP11-398K22.12|EIF3EP1|EIF3EP1|EIF3EP1|MTO1	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	567.33	35	chr6	73452132	.	G	C	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=740;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.719;SOR=0.999	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1482	18	0	1	0
chr6	73500589	73500589	C	A	exonic	MTO1	.	nonsynonymous SNV	MTO1:NM_012123:exon12:c.C1933A:p.R645S,MTO1:NM_001123226:exon13:c.C2053A:p.R685S,MTO1:NM_133645:exon13:c.C2008A:p.R670S	Combined oxidative phosphorylation deficiency 10, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	YES	389130	not_provided|Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency|Abnormal_brain_morphology	MedGen:C3661900|MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.694	0.024494916297	.	.	4.963e-05	0	0	0	0	1.503e-05	0.0011	0.0002	3.88e-05	6	154602	rs746382157	3.287e-05	3.489e-05	2.044e-05	4.543e-05	0.0004	2.546e-05	2.251e-05	0.0003	0.0003	0	0	0	0	0	0.0003	6.298e-06	4.972e-05	0.0004	6.573e-06	6.568e-06	0	1.346e-05	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.014	0.78490	D	0.01	0.83351	D	1.0	0.90584	D	0.987	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	4.045	0.97016	H	.	.	.	-5.2	0.83695	D	0.756	0.87590	0.267	0.87016	D	0.544	0.83222	D	9	0.8349378	0.82651	D	0.024495	0.47488	T	0.694	0.88913	0.697	0.83406	0.881788646564	0.88063	0.8676891127275673	0.86733	0.939492545994	0.72166	0.608762145042	0.54140	T	0.627462	0.88409	D	0.254789	0.79048	D	0.420359	0.92755	D	0.974554538726807	0.70557	D	0.937606	0.99955	D	0.90945464	0.92244	0.83927643	0.90790	0.88609356	0.90176	0.85342854	0.91734	-11.166	0.80561	D	0.3926865676295587	0.48565	0.880	0.86921	P	.;.;.;.	.;.;.;.	5.264390	0.88397	29.6	0.99823969153537084	0.90677	0.94468	0.61262	D	AEFBI	0.644235	0.62056	D	0.859838627434628	0.89662	10.06419	0.79329861882849	0.89325	9.928327	0.783038553029033	0.23879	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.48	5.48	0.80675	4.742000	0.61798	7.493000	0.59393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.108	0.86544	909	0.22467	.;.;.;GidA associated domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	33	chr6	73500589	.	C	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.504;DP=691;ExcessHet=0;FS=3.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.213;SOR=1.067	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr6	73518150	73518150	G	A	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon7:c.C1144T:p.R382C	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0573187396446	.	.	3.307e-05	0	0	0	0	3.16e-05	0	8.688e-05	3.84e-05	1	26028	rs2882585	7.973e-05	0.0011	6.422e-05	9.544e-05	0.0009	6.766e-05	6.297e-05	0.0008	0.0007	0	6.718e-05	0	0	0	0	2.342e-05	0.0002	0.0009	3.292e-05	0.0002	2.575e-05	4.042e-05	0.0011	1.263e-05	7.99e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.036	0.43393	D	0.054	0.48336	T	0.007	0.14184	B	0.001	0.04355	B	0.000003	0.62929	U	0.062472	1	0.81001	D	.	.	.	0.79	0.49068	T	-5.43	0.85323	D	0.792	0.78832	-0.2638	0.75984	T	0.284	0.65635	T	10	0.73739445	0.74717	D	0.057319	0.66924	D	0.414	0.72479	0.587	0.71497	0.856558768636	0.85517	0.792767207575457	0.79229	1.76035964692	0.91122	0.892249345779	0.95538	D	0.571432	0.85816	D	0.26688	0.80159	D	0.145578	0.79903	D	0.995324194431305	0.87221	D	0.776122	0.40827	T	0.29634607	0.52575	0.33900982	0.59672	0.29634607	0.52575	0.33900982	0.59671	-10.406	0.76305	D	.	.	0.919	0.97009	P	.;.;.;.;.	.;.;.;.;.	4.527460	0.71041	25.6	0.99204953591732714	0.55412	0.97176	0.73137	D	AEFBHCI	0.958783	0.97876	D	0.537375405975902	0.69317	5.339769	0.560427786107707	0.72126	5.760939	0.999999999999998	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.81	4.81	0.61401	9.568000	0.97316	3.245000	0.36991	-0.108000	0.15293	1.000000	0.71638	0.695000	0.26199	0.889000	0.42754	0.0:0.0:1.0:0.0	18.312	0.90143	918	0.19598	Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002637	0.010101	0.000000	0.003846	0.000000	0.000000	0.000000	0.000000	0.02632	41.33	34	chr6	73518150	.	G	A	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.85;MQRankSum=-3.55;QD=0.54;ReadPosRankSum=1.85;SOR=0.834	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr6	73518250	73518250	G	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon7:c.C1044A:p.N348K	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	.	.	0.0058	0.0007	0.0014	0.0002	0.0012	0.0035	0.0124	0.0260	3.84e-05	1	26028	rs190893068	0.0003	0.0085	0.0003	0.0003	0.0011	0.0003	0.0002	0.0009	0.0008	0	9.007e-05	0.0005	0	1.877e-05	0	0.0003	0.0002	0.0011	6.574e-06	0.0001	1.286e-05	0	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.027	0.19556	B	0.074	0.28220	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	0.94	0.43672	T	-4.24	0.76015	D	0.52	0.55019	-0.6145	0.64217	T	0.173	0.51548	T	10	0.0108906925	0.00240	T	.	.	.	0.324	0.64624	0.802	0.92089	0.672029979317	0.66926	0.7722312901423933	0.77173	1.58006647344	0.88371	0.813349545002	0.84006	D	0.527269	0.83575	D	-0.0366621	0.46442	T	-0.290439	0.45727	T	0.124357726080577	0.14851	T	0.820618	0.47957	T	0.85044634	0.87369	0.78603727	0.87400	0.85044634	0.87370	0.78603727	0.87401	-12.916	0.89014	D	.	.	0.971	0.96343	P	.;.;.;.;.	.;.;.;.;.	3.771456	0.54171	23.5	0.99104738477229093	0.52572	0.85549	0.44693	D	AEFDBHCI	0.750651	0.69171	D	0.240238781126076	0.53157	3.485987	0.249650035826306	0.52631	3.436542	0.999999980190295	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.71	3.84	0.43422	3.887000	0.55910	0.946000	0.22888	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0779:0.0:0.9221:0.0	13.281	0.59650	918	0.19598	Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal;Translation elongation factor EFTu/EF1A, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.005051	0.010870	0.008772	0.000000	0.008621	0.006098	0.034091	0.02632	88.33	34	chr6	73518250	.	G	T	88.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.696;DP=1044;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.33;MQRankSum=-6.092;QD=1.09;ReadPosRankSum=-3.483;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr6	73518506	73518506	C	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon6:c.G877A:p.E293K	.	473	1036	13	0	0	13	0.00623501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.134818783594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312467300	0.0004	0.0062	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	6.024e-05	0.0001	0.0006	0	0.0001	0.0002	0.0003	0.0003	0.0012	0.0002	0.0021	0.0001	0.0002	0.0024	0.0001	0.0001	0.0014	0.0011	9.686e-05	0	6.65e-05	0	0	9.515e-05	0	0.0001	0.0005	0.0024	0.04	0.42199	D	0.035	0.52727	D	0.124	0.26825	B	0.127	0.32738	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-0.23	0.66652	T	-2.97	0.61865	D	0.942	0.94904	0.029	0.82835	D	0.448	0.78342	T	10	0.8407221	0.83228	D	0.134819	0.81727	D	0.583	0.83249	.	.	0.897034101692	0.89601	0.8300957998537681	0.82968	1.5806642636	0.88385	0.857482016087	0.90739	D	0.544751	0.84477	D	0.342458	0.85998	D	0.254141	0.85814	D	0.591327620665166	0.36058	D	0.875412	0.58680	D	0.5682314	0.70963	0.44342095	0.67559	0.5682314	0.70964	0.44342095	0.67559	-12.759	0.88346	D	.	.	0.995	0.99585	P	.;.;.;.;.	.;.;.;.;.	4.902669	0.80590	27.4	0.99853741485947101	0.93279	0.95047	0.63245	D	AEFBHCI	0.936541	0.93302	D	0.486767721591307	0.66317	4.934478	0.495264674362681	0.67674	5.115977	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	4.71	0.59010	7.573000	0.81745	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:1.0:0.0:0.0	18.092	0.89406	917	0.20147	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.48	55	chr6	73518506	.	C	T	128.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.736;DP=1030;ExcessHet=0;FS=6.089;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=48.37;MQRankSum=-2.578;QD=1.74;ReadPosRankSum=0.675;SOR=1.172	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr6	73730429	73730429	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G362A:p.R121H,CD109:NM_133493:exon4:c.G362A:p.R121H	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407403340912	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0014	0.0002781	43	154602	rs111900767	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0015	0.0015	8.966e-05	8.944e-05	0	0	3.744e-05	0.0023	0.0001	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.237e-05	0.0011	0.0009	4.815e-05	0	0.0001	0	0	0	0	0.0001	0	0.0021	0.151	0.24857	T	0.098	0.39040	T	0.004	0.12183	B	0.009	0.14300	B	0.960159	0.07712	N	1.017200	1	0.08975	N	2.19	0.61577	M	1.86	0.24285	T	-0.61	0.18042	N	0.329	0.38950	-0.9527	0.40503	T	0.010	0.03582	T	10	0.014167875	0.00298	T	0.004074	0.09712	T	0.015	0.02232	.	.	0.165133752707	0.16062	0.2246981547612539	0.22384	0.0355492049732	0.03753	0.291018903255	0.09071	T	0.012462	0.10952	T	-0.587824	0.00173	T	-0.652523	0.08778	T	0.0279248407251503	0.01677	T	0.737326	0.35372	T	0.019185638	0.00445	0.024031734	0.00418	0.019185638	0.00445	0.024031734	0.00418	-4.718	0.33622	T	.	.	0.069	0.06250	B	.;.	.;.	1.434112	0.18528	13.78	0.97070937584941419	0.32239	0.03360	0.08452	N	AEFBI	0.089823	0.18205	N	-1.2080209151828	0.04881	0.221288	-1.23191064721539	0.05405	0.2574195	0.806036546163615	0.24271	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.28	-2.17	0.06663	-0.003000	0.12836	-0.574000	0.08411	-0.135000	0.12811	0.003000	0.16062	0.000000	0.08366	0.453000	0.27962	0.2431:0.3321:0.1914:0.2334	0.775	0.00965	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1868.33	33	chr6	73730429	.	G	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=794;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.679;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1234	18	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N,CD109:NM_133493:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	56.77	33	chr6	73730508	.	G	C	56.77	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.537;DP=2014;ExcessHet=0;FS=285.7;InbreedingCoeff=-0.1382;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=2.49;SOR=9	GT:AD:DP:GQ:PL	./.:107,0:107:0:0,0,1933	11	0	1	7
chr6	73762747	73762747	G	T	exonic	CD109	.	stopgain	CD109:NM_001159588:exon8:c.G631T:p.G211X,CD109:NM_001159587:exon9:c.G862T:p.G288X,CD109:NM_133493:exon9:c.G862T:p.G288X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.679e-05	0	8.69e-05	0	0	1.516e-05	0	0	1.29e-05	2	154602	rs765239774	6.228e-06	6.157e-06	5.509e-06	6.953e-06	2.369e-05	2.93e-06	2.12e-06	1.33e-06	9.7e-07	0	2.369e-05	0	0	0	0	4.532e-06	3.342e-05	1.201e-05	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.165126	0.17541	N	0.619046	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.848	0.86511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	10.368754	0.99715	47	0.99120391768912874	0.52985	0.97271	0.73709	D	AEFBI	0.077802	0.15683	N	1.0530588050504	0.97161	15.68199	0.894989490713847	0.95351	13.53938	0.998121563446725	0.36460	0.732398	0.92422	0	0.588015	0.36545	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.06	5.06	0.67838	4.415000	0.59561	11.417000	0.92705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.348	0.87202	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	74	chr6	73762747	.	G	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.547;DP=715;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.169;SOR=1.162	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1298	18	0	1	0
chr6	73765952	73765952	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159588:exon10:c.G899A:p.G300D,CD109:NM_001159587:exon11:c.G1130A:p.G377D,CD109:NM_133493:exon11:c.G1130A:p.G377D	.	426	1064	30	2	0	34	0.0157262	.	.	.	1936492	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0055	0.00559105	0.0090	0.0012	0.0049	0	0.0212	0.0093	0.0078	0.0152	0.0084604	1308	154602	rs7741152	0.0077	0.0077	0.0075	0.0080	0.0165	0.0076	0.0076	0.0138	0.0128	0.0011	0.0059	0.0032	2.52e-05	0.0196	0.0165	0.0073	0.0080	0.0130	0.0069	0.0069	0.0063	0.0074	0.0131	0.0065	0.0064	0.0105	0.0096	0.0014	0	0.0103	0.0026	0	0.0169	0.0136	0.0083	0.0066	0.0131	0.251	0.37118	T	0.14	0.34837	T	0.99	0.63424	D	0.687	0.53665	P	0.225121	0.16047	N	0.646799	0.803527	0.29086	N	1.945	0.52268	M	1.85	0.28189	T	-3.61	0.69477	D	0.329	0.38027	-1.1034	0.03704	T	0.037	0.15770	T	10	0.003906667	0.00074	T	.	.	.	0.076	0.22200	.	.	0.494165489436	0.49052	0.45858311809435987	0.45776	0.0426313712504	0.04596	0.380707502365	0.22357	T	0.077416	0.35650	T	-0.4463	0.01187	T	-0.401532	0.33206	T	0.0257510232446633	0.01373	T	0.854015	0.55085	D	0.09098712	0.21306	0.13227315	0.31745	0.09098712	0.21306	0.13227315	0.31745	-5.307	0.40012	T	.	.	0.147	0.34602	B	.;.;.	.;.;.	2.610992	0.33913	19.48	0.94816582121608906	0.25582	0.62529	0.31809	D	AEFGBI	0.068000	0.13394	N	-0.171357638359433	0.34331	1.958243	-0.128088779677515	0.34262	1.968913	0.0351198615705181	0.14186	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	2.88	0.32617	1.785000	0.38315	5.533000	0.48851	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.763000	0.36255	0.2571:0.0:0.7429:0.0	7.785	0.28251	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.013587	0.014620	0.000000	0.025862	0.015244	0.015152	0.02632	433.33	27	chr6	73765952	.	G	A	433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=617;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.922;SOR=1.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	18	0	1	0
chr6	75121334	75121334	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon29:c.G3562A:p.G1188S,COL12A1:NM_004370:exon44:c.G7054A:p.G2352S	Bethlem myopathy 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.015116971809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.30800	T	0.097	0.45744	T	0.023	0.22878	B	0.142	0.33681	B	0.000004	0.62929	D	0.058454	0.960629	0.38190	D	-0.28	0.03718	N	-1.01	0.76168	T	0.46	0.03407	N	0.244	0.32591	-0.8196	0.53959	T	0.161	0.49681	T	10	0.22389552	0.39180	T	0.015117	0.35666	T	0.291	0.61040	0.498	0.58835	0.539371870287	0.53588	0.5452910732601682	0.54455	0.551757818701	0.52012	0.443698316813	0.31082	T	0.002636	0.37425	T	-0.0827395	0.39269	T	-0.356626	0.38443	T	0.879793465137482	0.52978	D	0.905209	0.66592	D	0.15677162	0.35361	0.21524139	0.46105	0.15677162	0.35361	0.21524139	0.46104	-2.976	0.13647	T	0.09010184994259313	0.05575	0.093	0.13830	B	.;.;.;.;.	.;.;.;.;.	4.063821	0.60331	24.2	0.99584418449336132	0.73218	0.98685	0.85562	D	AEFBI	0.956701	0.97541	D	0.0168093521204905	0.42620	2.571408	0.279048649782297	0.54318	3.597117	0.999999999999983	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	7.905000	0.86479	7.695000	0.65987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.966	0.97272	836	0.38045	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	40	chr6	75121334	.	C	T	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.045;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	75126363	75126363	A	G	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon24:c.T2956C:p.Y986H,COL12A1:NM_004370:exon39:c.T6448C:p.Y2150H	Bethlem myopathy 2	426	1094	2	0	0	2	0.000913242	.	.	.	455918	not_provided|not_specified|Bethlem_myopathy_2|Ullrich_congenital_muscular_dystrophy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.678	0.090501253264	0.0003	.	0.0003	0	0.0004	0	0	0.0004	0	0.0004	0.0002652	41	154602	rs200450866	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0029	0.0025	0.0001	0.0005	0.0006	0	1.877e-05	0.0042	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.825e-05	0	0.0012	0.0009	0	9.414e-05	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.87	0.83286	M	0.01	0.62459	T	-2.72	0.62151	D	0.896	0.89577	0.001	0.82287	D	0.434	0.77459	T	10	0.7310128	0.74298	D	0.090501	0.75530	D	0.678	0.88157	.	.	0.805575891683	0.80375	0.8442054365124602	0.84381	1.56905615492	0.88162	0.758734583855	0.75742	T	0.192915	0.71387	T	0.0185476	0.54185	T	0.129415	0.78853	D	0.210856601595879	0.20998	T	0.893011	0.63503	D	0.8702027	0.88877	0.85091674	0.91565	0.8702027	0.88878	0.85091674	0.91566	-8.954	0.67400	D	0.7105453990594863	0.79071	0.831	0.79568	P	.;.;.;.;.	.;.;.;.;.	5.007754	0.83134	28.0	0.99815660112786253	0.89885	0.99535	0.97177	D	AEBI	0.937992	0.93654	D	0.903090271760787	0.91909	11.130	0.859243371779087	0.93545	12.11364	0.999999999999858	0.74766	0.75658	0.98901	0	0.573888	0.26702	0	0.618467	0.43123	0	0.656636	0.63459	0	.	.	5.7	5.7	0.88690	8.947000	0.92735	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	15.974	0.79840	856	0.34373	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	962.33	34	chr6	75126363	.	A	G	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=705;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.217;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr6	75308857	75308857	C	T	exonic	FILIP1	.	nonsynonymous SNV	FILIP1:NM_001300866:exon6:c.G3476A:p.R1159H,FILIP1:NM_015687:exon6:c.G3476A:p.R1159H,FILIP1:NM_001289987:exon7:c.G3485A:p.R1162H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.028478602147	0.0002	.	0.0003	9.612e-05	0	0.0002	0.0003	0.0004	0.0022	0	0.000207	32	154602	rs147152005	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0004	0.0008	0.0006	5.978e-05	6.708e-05	0	2.519e-05	9.36e-05	0.0016	0.0005	0.0001	8.117e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	6.539e-05	0	0	0.0002	0.0034	0.0006	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	1.37	0.34841	T	-1.06	0.29933	N	0.899	0.89912	-0.8723	0.50356	T	0.184	0.53315	T	10	0.58991796	0.66321	D	0.028479	0.51148	D	0.249	0.55752	.	.	0.891455236297	0.89038	0.585145658848015	0.58444	0.803877725872	0.66374	0.74348294735	0.73485	T	0.01099	0.11321	T	-0.0285683	0.47626	T	0.0946376	0.76553	D	0.252456343664935	0.22983	T	0.961304	0.87984	D	0.31476608	0.54195	0.26901206	0.52777	0.31476608	0.54195	0.26901206	0.52776	-4.302	0.29448	T	.	.	0.904	0.83043	P	.;.;.	.;.;.	5.410057	0.90561	31	0.99950520549785438	0.99938	0.99676	0.98575	D	AEFDBI	0.959968	0.98055	D	0.845641066140618	0.88857	9.739497	0.852583273944985	0.93165	11.866	0.999999999999999	0.74766	0.740787	0.97801	0	0.491513	0.07743	0	0.767554	0.98243	0	0.579976	0.35079	0	.	.	5.91	5.91	0.95240	7.565000	0.81337	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.290	0.98543	836	0.38045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1486.33	136	chr6	75308857	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.8;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	18	0	1	0
chr6	75314504	75314504	C	T	exonic	FILIP1	.	nonsynonymous SNV	FILIP1:NM_001300866:exon5:c.G1328A:p.S443N,FILIP1:NM_015687:exon5:c.G1328A:p.S443N,FILIP1:NM_001289987:exon6:c.G1337A:p.S446N	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00653772445992	0.0014	.	0.0015	0.0002	0.0013	0	0.0002	0.0022	0.0011	0.0015	0.0014877	230	154602	rs41269319	0.0014	0.0014	0.0013	0.0014	0.0113	0.0013	0.0013	0.0091	0.0083	0.0005	0.0016	0.0056	0	0.0001	0.0113	0.0013	0.0019	0.0010	0.0013	0.0013	0.0016	0.0011	0.0020	0.0012	0.0011	0.0016	0.0015	0.0003	0	0.0020	0.0058	0.0002	0	0.0136	0.0019	0.0024	0.0006	0.61	0.06735	T	0.668	0.06448	T	0.001	0.07471	B	0.012	0.16012	B	0.000009	0.62929	D	0.173959	0.69244	0.30179	N	0.205	0.09354	N	2.23	0.18083	T	0.01	0.06868	N	0.19	0.21056	-0.9887	0.32928	T	0.011	0.03996	T	10	0.00881657	0.00200	T	0.006538	0.17243	T	0.104	0.29647	.	.	0.584212540733	0.58094	0.04625965896914498	0.04569	0.163800729351	0.18476	0.580128312111	0.50103	T	0.008616	0.07902	T	-0.614747	0.00119	T	-0.661675	0.08153	T	0.00937362353424962	0.00120	T	0.874313	0.59828	D	0.13260126	0.30871	0.12722658	0.30629	0.13260126	0.30871	0.12722658	0.30629	-4.454	0.30560	T	.	.	0.095	0.20508	B	.;.;.	.;.;.	2.244109	0.28660	17.87	0.87231487400929031	0.17080	0.83759	0.42856	D	AEFBI	0.340203	0.43710	N	-0.246344686721309	0.31250	1.75036	-0.00346568531012886	0.39559	2.347357	0.836334565199002	0.24786	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.65	5.65	0.86881	1.239000	0.32322	6.015000	0.52706	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.7393:0.2607:0.0	14.898	0.70301	825	0.40060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.009511	0.005848	0.000000	0.025862	0.009146	0.007576	0.02632	1740.33	47	chr6	75314504	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.652;DP=941;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.361;SOR=0.839	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	75890141	75890141	A	G	exonic	MYO6	.	nonsynonymous SNV	MYO6:NM_001300899:exon26:c.A2743G:p.K915E,MYO6:NM_001368136:exon26:c.A2743G:p.K915E,MYO6:NM_001368137:exon26:c.A2743G:p.K915E,MYO6:NM_001368138:exon26:c.A2728G:p.K910E,MYO6:NM_001368865:exon26:c.A2743G:p.K915E,MYO6:NM_001368866:exon26:c.A2743G:p.K915E,MYO6:NM_004999:exon26:c.A2743G:p.K915E	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0105623084725	.	.	1.812e-05	0	0	0.0001	0	0	0	6.979e-05	1.29e-05	2	154602	rs747453477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.542	0.14158	T	0.373	0.34173	B	0.117	0.32014	B	0.000068	0.52346	D	0.196289	0.999998	0.58761	D	1.69	0.43327	L	2.21	0.23082	T	-1.41	0.34795	N	0.554	0.58117	-1.1052	0.03517	T	0.034	0.14813	T	10	0.2741276	0.44965	T	0.010562	0.27238	T	0.109	0.30843	0.339	0.32979	0.441636318388	0.43783	0.35755095978188667	0.35669	0.361046545308	0.37764	0.642080307007	0.58859	T	0.120476	0.44274	T	-0.189796	0.22289	T	-0.319373	0.42644	T	0.259058800378748	0.23274	T	0.936106	0.76057	D	.	.	.	.	.	.	.	.	-10.882	0.79167	D	.	.	0.149	0.34071	B	.;.;.;.;.;.	.;.;.;.;.;.	4.161203	0.62489	24.5	0.99508768657685442	0.68499	0.98903	0.88402	D	AEFBI	0.914372	0.87764	D	0.238240124596088	0.53061	3.476703	0.394218951676799	0.61207	4.317691	0.999964400070329	0.48965	0.67177	0.52595	0	0.633656	0.55848	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	7.904000	0.86152	9.282000	0.79722	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.473	0.83963	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	33	chr6	75890141	.	A	G	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.974;DP=713;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.266;SOR=0.533	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1243	18	0	1	0
chr6	75947467	75947467	C	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon13:c.G1657A:p.G553R,IMPG1:NM_001563:exon14:c.G1891A:p.G631R	Macular dystrophy, vitelliform, 4, Autosomal dominant	440	1081	1	0	0	1	0.000462321	.	.	.	945233	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.700	0.0833578954332	.	.	2.492e-05	0	0	0	0	4.53e-05	0	0	3.84e-05	1	26028	rs767150099	1.779e-05	1.779e-05	1.362e-05	2.201e-05	2.989e-05	1.238e-05	1.052e-05	1.093e-05	8.81e-06	2.989e-05	2.238e-05	0	0	5.619e-05	0	1.709e-05	0	2.319e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.549e-05	2.19e-06	8.2e-07	.	.	0	0	6.549e-05	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000008	0.62929	D	0.000000	1	0.81001	D	2.545	0.74286	M	0.5	0.55608	T	-7.78	0.95870	D	0.985	0.99929	-0.3553	0.73400	T	0.347	0.71155	T	10	0.9613362	0.95547	D	0.083358	0.74099	D	0.700	0.89192	0.855	0.95491	0.916099196364	0.91525	0.8981260734349226	0.89783	0.0996061284925	0.11245	0.667738318443	0.62514	T	0.367708	0.73273	T	0.229854	0.76708	D	0.20005	0.83134	D	0.994624197483063	0.86028	D	0.966703	0.87848	D	0.86513114	0.88480	0.88026994	0.93580	0.86513114	0.88482	0.88026994	0.93580	-10.095	0.74478	D	.	.	0.902	0.82870	P	.;.	.;.	4.967164	0.82174	27.7	0.99942694253402964	0.99848	0.98069	0.79335	D	AEFBI	0.927596	0.91051	D	0.916752414986356	0.92556	11.491	0.896057872759233	0.95397	13.58445	0.999999998239433	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.86	5.86	0.93936	7.568000	0.81546	4.034000	0.41364	0.599000	0.40250	1.000000	0.71638	0.982000	0.30508	0.996000	0.76049	0.0:1.0:0.0:0.0	20.200	0.98258	421	0.81399	SEA domain|SEA domain|SEA domain;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	893.33	33	chr6	75947467	.	C	T	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=720;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.87;SOR=0.545	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1445	18	0	1	0
chr6	76002938	76002938	C	T	exonic	IMPG1	.	nonsynonymous SNV	IMPG1:NM_001282368:exon11:c.G1037A:p.G346E,IMPG1:NM_001563:exon12:c.G1271A:p.G424E	Macular dystrophy, vitelliform, 4, Autosomal dominant	427	1093	2	0	0	2	0.000914077	.	.	.	1155496	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	7.7e-05	0.00638978	0.0022	0	8.767e-05	0.0277	0	9.032e-05	0.0022	0.0007	0.0019663	304	154602	rs78195046	0.0007	0.0007	0.0007	0.0007	0.0222	0.0007	0.0007	0.0209	0.0204	2.989e-05	4.475e-05	0	0.0222	0	0.0007	3.239e-05	0.0012	0.0011	0.0010	0.0010	0.0009	0.0011	0.0272	0.0009	0.0008	0.0236	0.0222	0	0	0.0001	0	0.0272	0	0	1.47e-05	0.0005	0.0012	0.227	0.18498	T	1.0	0.01155	T	0.294	0.32391	B	0.038	0.23361	B	0.684229	0.10232	N	0.866775	1	0.08975	N	0.55	0.14455	N	2.18	0.18875	T	0.4	0.03463	N	0.134	0.13055	-0.9417	0.42346	T	0.005	0.01615	T	10	0.0036269426	0.00066	T	.	.	.	0.017	0.02790	.	.	0.132336055621	0.12781	0.16163432213308476	0.16084	0.0141905182625	0.01351	0.243398070335	0.03104	T	4.29E-4	0.00140	T	-0.720616	0.00027	T	-0.786941	0.02250	T	0.0076277048888504	0.00089	T	0.458554	0.13215	T	0.036380988	0.04465	0.059906296	0.11322	0.04106266	0.05977	0.047333952	0.06794	-3.093	0.11216	T	.	.	0.064	0.02257	B	.;.	.;.	0.150518	0.05428	1.901	0.30274397742748954	0.01647	0.02876	0.07652	N	AEFI	0.050753	0.08902	N	-1.28906867743551	0.03806	0.1706793	-1.27185220229912	0.04815	0.2280374	8.56313197582046E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	0.901	0.18416	-0.170000	0.09886	-0.566000	0.08452	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1539:0.5045:0.1504:0.1911	2.153	0.03573	380	0.83728	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1048.33	33	chr6	76002938	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.451;DP=736;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.498;SOR=0.602	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1457	18	0	1	0
chr6	77690736	77690736	C	T	exonic	MEI4	.	nonsynonymous SNV	MEI4:NM_001282136:exon2:c.C65T:p.S22L,MEI4:NM_001322247:exon2:c.C65T:p.S22L	.	571	947	4	0	0	4	0.00210748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055747346893	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356624369	6.485e-06	6.156e-06	5.264e-06	7.85e-06	0.0003	2.7e-06	1.73e-06	0.0001	6.511e-05	0	0	0	0	0	0.0003	0	2.289e-05	0.0003	2.63e-05	2.626e-05	1.287e-05	4.034e-05	0.0006	8.15e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0006	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.64478	.	.	.	.	.	.	.	0.6804706	0.71248	D	0.055747	0.66348	D	.	.	.	.	0.683105768163	0.68040	0.5936526327615168	0.59295	.	.	.	.	.	0.073207	0.34642	T	0.528569	0.95145	D	0.521477	0.95073	D	.	.	.	0.870713	0.57574	D	0.3927873	0.60229	0.53919405	0.73369	0.3927873	0.60230	0.53919405	0.73369	-6.765	0.52298	T	.	.	0.298	0.52793	B	.;.	.;.	4.023463	0.59445	24.1	0.74065718728824625	0.10557	0.95247	0.63985	D	AEFI	0.609578	0.59873	D	.	.	.	.	.	.	0.952444567967318	0.28016	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	5.92	5.92	0.95557	5.346000	0.65762	4.891000	0.45764	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.315	0.94196	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2120.33	33	chr6	77690736	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=776;ExcessHet=0;FS=10.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.28;SOR=0.183	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	18	0	1	0
chr6	79673725	79673725	G	A	exonic	SH3BGRL2	.	nonsynonymous SNV	SH3BGRL2:NM_031469:exon2:c.G157A:p.V53I	.	432	1089	1	0	0	1	0.000458926	.	.	.	3317928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0133361239199	0.0002	0.000199681	2.482e-05	0	0	0	0	1.505e-05	0	0.0001	3.23e-05	5	154602	rs371878206	3.831e-05	3.831e-05	3.539e-05	4.125e-05	0.0002	3.025e-05	2.719e-05	9.791e-05	7.838e-05	0	4.472e-05	0	0	0	0	3.058e-05	9.934e-05	0.0002	3.285e-05	3.281e-05	3.858e-05	2.687e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.409e-05	0	0	0	0	0	0	5.881e-05	0	0	0.483	0.08164	T	0.542	0.09690	T	0.0	0.02946	B	0.0	0.01387	B	0.000036	0.55875	N	0.163302	0.995577	0.23256	N	-1.025	0.01131	N	-1.06	0.76819	T	-0.33	0.12472	N	0.235	0.26475	-0.9570	0.39735	T	0.059	0.24539	T	10	0.044989467	0.03518	T	0.013336	0.32667	T	0.226	0.52472	.	.	0.252162846088	0.24830	0.20865649705149758	0.20781	0.154276991831	0.17418	0.277822911739	0.07190	T	0.010119	0.09163	T	-0.333392	0.05858	T	-0.514017	0.20902	T	0.00908557791262865	0.00114	T	0.835616	0.50622	T	0.020307004	0.00585	0.035333056	0.02767	0.020307004	0.00584	0.035333056	0.02766	-2.119	0.03666	T	.	.	0.056	0.00470	B	.	.	1.214972	0.16082	12.31	0.44560018353441877	0.03435	0.46039	0.27671	N	AEFBI	0.068511	0.13518	N	-0.926750730587145	0.10219	0.4873226	-0.80963592510801	0.14263	0.7443314	0.145344228194448	0.17348	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	1.18	0.20058	2.372000	0.43911	0.453000	0.18541	0.618000	0.50648	1.000000	0.71638	0.002000	0.18203	0.807000	0.38039	0.7767:0.0:0.2233:0.0	9.030	0.35414	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	557.33	37	chr6	79673725	.	G	A	557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=676;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.87;SOR=1.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:16:.:.:0,16,698:.	4	0	10	5
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7038.11	53	chr6	80007991	.	AGTTTT	A	7038.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	15	0	4	0
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7038.11	53	chr6	80007991	.	AGTTTTG	A	7038.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	16	0	3	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	1	0	7	11
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	*	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	6	0	4	9
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	TCCCC	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	6	0	4	9
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S,TTK:NM_003318:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.5	21	chr6	80007995	.	T	C	2459.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	9	0	1	9
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	2295.91	21	chr6	80007996	.	T	TCCCCC	2295.91	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	7	0	4	8
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	2295.91	21	chr6	80007996	.	T	*	2295.91	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.136;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:24,0:24:0:.:.:0,0,0:.	9	0	2	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2153.55	42	chr6	80007997	.	G	GCCCCCA	2153.55	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.71;DP=869;ExcessHet=0.7564;FS=172.724;InbreedingCoeff=-0.1206;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.07;SOR=8.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:62:.:.:0,62,1146:.	15	0	4	0
chr6	80106808	80106808	G	T	exonic	BCKDHB	.	nonsynonymous SNV	BCKDHB:NM_000056:exon1:c.G115T:p.A39S,BCKDHB:NM_183050:exon1:c.G115T:p.A39S	Maple syrup urine disease, type Ib, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.251241563239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914935376	6.888e-07	4.788e-06	0	1.386e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.05808	T	0.939	0.03223	T	0.001	0.07471	B	0.001	0.04355	B	0.358709	0.04290	N	1.320170	1	0.08975	N	1.04	0.26193	L	-4.11	0.96687	D	0.35	0.03761	N	0.12	0.13911	-0.2687	0.75846	T	0.377	0.73490	T	10	0.054461718	0.05802	T	0.251242	0.89124	D	0.261	0.57352	0.274	0.22528	0.549207062979	0.54577	0.3478569502397165	0.34699	0.179474252234	0.20186	0.5615234375	0.47483	T	0.12266	0.44650	T	-0.0596844	0.42958	T	-0.323509	0.42189	T	0.0462015404432569	0.04820	T	0.394461	0.09873	T	0.042223055	0.06364	0.055307213	0.09676	0.042223055	0.06364	0.055307213	0.09675	-4.681	0.33319	T	.	.	0.085	0.10111	B	.;.;.	.;.;.	0.005927	0.04325	1.096	0.69912200788690515	0.09124	0.00742	0.03097	N	ALL	0.042431	0.06582	N	-2.03788265199367	0.00175	0.007506602	-1.99635476340057	0.00312	0.01375986	0.999999999997396	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.47	-2.8	0.05477	-0.655000	0.05447	-1.229000	0.05965	-0.882000	0.02455	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0671:0.1833:0.3267:0.4228	4.802	0.12668	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015832	0.015625	0.014946	0.029412	0.000000	0.008772	0.006452	0.018939	0.02632	1631.33	38	chr6	80106808	.	G	T	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=836;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.703;SOR=0.828	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	81751748	81751748	C	G	exonic	TENT5A	.	nonsynonymous SNV	TENT5A:NM_017633:exon2:c.G394C:p.D132H	.	434	1085	2	1	0	4	0.00183993	.	.	.	2098538	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.224	.	0.0038	0.00159744	0.0060	0.0010	0.0016	0	0.0236	0.0077	0.0056	0.0018	0.0052263	808	154602	rs138694074	0.0057	0.0057	0.0058	0.0056	0.0060	0.0056	0.0056	0.0059	0.0058	0.0007	0.0014	0.0003	7.557e-05	0.0226	0.0007	0.0060	0.0042	0.0015	0.0052	0.0052	0.0040	0.0064	0.0063	0.0049	0.0047	0.0058	0.0056	0.0007	0.0044	0.0018	0.0006	0.0002	0.0262	0.0034	0.0063	0.0019	0.0021	0.235	0.21385	T	0.112	0.38016	T	0.997	0.73220	D	0.774	0.60933	P	0.000000	0.84330	D	0.087063	1	0.81001	D	.	.	.	1.64	0.27822	T	-3.63	0.69714	D	0.886	0.89577	-0.7008	0.60400	T	0.225	0.58995	T	10	0.009378076	0.00212	T	.	.	.	0.274	0.59007	.	.	0.659443253582	0.65659	0.9064361077845647	0.90616	2.2392942424	0.96003	0.847156047821	0.89184	D	0.069428	0.33706	T	-0.249771	0.14126	T	-0.125016	0.61389	T	0.0367216983412185	0.03107	T	0.767723	0.39623	T	0.6376217	0.74704	0.58082634	0.75703	0.6352117	0.74577	0.58082634	0.75704	-8.824	0.66557	D	0.15306865354124216	0.18178	0.679	0.77593	P	.;.;.	.;.;.	5.055412	0.84232	28.3	0.99252292001913467	0.56924	0.94515	0.61415	D	ALL	0.838573	0.75608	D	0.275208238966209	0.54895	3.654163	0.311069877004327	0.56190	3.781952	1.0	0.98316	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.375	0.06713	1	.	.	5.38	4.51	0.54589	6.060000	0.70773	5.832000	0.50172	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9266:0.0:0.0734	13.970	0.63750	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1718.33	33	chr6	81751748	.	C	G	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=770;ExcessHet=0;FS=2.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-2.787;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1127	18	0	1	0
chr6	82957319	82957319	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon8:c.C581A:p.S194Y,UBE3D:NM_001304437:exon9:c.C1046A:p.S349Y,UBE3D:NM_198920:exon9:c.C1142A:p.S381Y,UBE3D:NM_001350602:exon10:c.C1046A:p.S349Y,UBE3D:NM_001350604:exon10:c.C581A:p.S194Y	.	435	1068	18	1	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0062	0.00179712	0.0065	0.0013	0.0038	0.0001	0.0189	0.0089	0.0055	0.0006	0.0063906	988	154602	rs34566948	0.0075	0.0075	0.0077	0.0074	0.0114	0.0074	0.0074	0.0092	0.0084	0.0012	0.0045	0.0085	0	0.0170	0.0114	0.0081	0.0074	0.0010	0.0063	0.0063	0.0061	0.0066	0.0084	0.0060	0.0059	0.0078	0.0076	0.0012	0.0011	0.0046	0.0081	0	0.0196	0.0274	0.0084	0.0080	0.0015	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.106577	1	0.81001	D	2.51	0.73131	M	1.45	0.32482	T	-4.0	0.74051	D	0.632	0.64563	-0.9164	0.46037	T	0.149	0.47540	T	10	0.017632455	0.00378	T	.	.	.	0.315	0.63694	.	.	0.326345978581	0.32251	0.6545564510920472	0.65391	0.894031276661	0.70350	0.547096848488	0.45448	T	0.036254	0.24035	T	-0.25914	0.13000	T	-0.135618	0.60496	T	0.016612235872143	0.00421	T	0.826617	0.49005	T	0.47465855	0.65576	0.5235199	0.72471	0.47465855	0.65576	0.5235199	0.72472	-8.699	0.65739	D	.	.	0.164	0.36214	B	.	.	4.388055	0.67691	25.1	0.99498180530173386	0.67859	0.94425	0.61124	D	AEFDBI	0.617271	0.60352	D	0.631594764806553	0.75182	6.261084	0.575537385164814	0.73191	5.930243	0.999999999582779	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	5.791000	0.68692	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.192000	0.21661	0.0:0.0:1.0:0.0	16.467	0.83923	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.010101	0.009511	0.008772	0.000000	0.000000	0.036585	0.000000	0.02632	1022.33	33	chr6	82957319	.	G	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.674;DP=987;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.79;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr6	83044450	83044450	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon3:c.C14A:p.S5Y,UBE3D:NM_001304437:exon4:c.C479A:p.S160Y,UBE3D:NM_198920:exon4:c.C575A:p.S192Y,UBE3D:NM_001350602:exon5:c.C479A:p.S160Y,UBE3D:NM_001350604:exon5:c.C14A:p.S5Y	.	425	1070	21	6	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0169660531318	0.0013	0.00139776	0.0019	0.0003	0.0009	0	0	0.0025	0.0011	0.0028	0.0002781	43	154602	rs142920762	0.0015	0.0015	0.0014	0.0016	0.0109	0.0015	0.0014	0.0088	0.0080	5.974e-05	0.0012	0.0047	2.519e-05	0	0.0109	0.0014	0.0023	0.0029	0.0011	0.0011	0.0010	0.0011	0.0018	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0011	0.0014	0	9.418e-05	0.0102	0.0018	0.0014	0.0012	0.012	0.54683	D	0.334	0.18340	T	0.551	0.38139	P	0.202	0.36942	B	0.470169	0.12287	N	0.718775	0.999956	0.19072	N	1.795	0.47270	L	1.36	0.34452	T	-2.62	0.56301	D	0.273	0.30914	-1.0839	0.06609	T	0.045	0.19234	T	10	0.011587679	0.00253	T	0.016966	0.38471	T	0.042	0.11227	.	.	0.334659703779	0.33074	0.3617755826504025	0.36091	0.879427020932	0.69712	0.325996041298	0.14328	T	0.081403	0.36589	T	-0.477369	0.00766	T	-0.464032	0.26163	T	0.0256460664550448	0.01358	T	0.622538	0.23960	T	0.13779564	0.31892	0.19621018	0.43340	0.13779564	0.31892	0.19621018	0.43339	-6.868	0.53063	T	.	.	0.107	0.20078	B	.	.	2.183899	0.27838	17.60	0.95444514876275222	0.26955	0.67987	0.33633	D	AEFDBHCI	0.132553	0.25190	N	-0.247992029548998	0.31184	1.746012	-0.291952657994726	0.28362	1.580881	0.969250586910865	0.29114	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.91	2.75	0.31439	2.089000	0.41297	3.659000	0.39401	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.029000	0.12982	0.2886:0.0:0.7114:0.0	8.611	0.32961	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.006793	0.002924	0.000000	0.017241	0.015244	0.015152	0.02632	1312.33	35	chr6	83044450	.	G	T	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=751;ExcessHet=0;FS=2.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.97;SOR=1.061	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr6	83138106	83138106	G	A	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon21:c.G4037A:p.R1346Q,DOP1A:NM_015018:exon21:c.G4064A:p.R1355Q	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	7.7e-05	0.00339457	0.0010	0	8.679e-05	0.0130	0	1.501e-05	0.0011	0.0001	0.0008926	138	154602	rs142639349	0.0005	0.0005	0.0005	0.0005	0.0157	0.0004	0.0004	0.0147	0.0143	0	2.236e-05	0	0.0157	0	0	2.698e-05	0.0004	0.0002	0.0005	0.0005	0.0004	0.0006	0.0139	0.0004	0.0004	0.0113	0.0104	0	0	6.552e-05	0	0.0139	0	0	2.942e-05	0.0009	0.0002	0.033	0.44358	D	0.494	0.11407	T	0.905	0.49920	P	0.158	0.34617	B	0.000021	0.55875	D	0.119553	0.992441	0.41647	D	0.895	0.22405	L	1.87	0.24285	T	0.74	0.02038	N	0.672	0.67995	-1.0878	0.05908	T	0.029	0.12234	T	10	0.0072662532	0.00165	T	.	.	.	0.267	0.58126	.	.	0.0934897674506	0.08844	0.43386802220650916	0.43303	0.300946215682	0.32444	0.497527867556	0.38484	T	0.01005	0.09105	T	-0.296838	0.08961	T	-0.188132	0.55766	T	0.0662610206994532	0.08116	T	0.914109	0.69400	D	0.09314974	0.21871	0.11184152	0.26982	0.09314974	0.21870	0.11184152	0.26981	-3.633	0.18335	T	.	.	0.084	0.10931	B	.;.;.	.;.;.	3.645059	0.51706	23.1	0.97007044870773185	0.31969	0.97431	0.74706	D	AEFGBI	0.679747	0.64367	D	0.258126459578032	0.54042	3.570846	0.395926907953139	0.61312	4.329722	0.99998963399249	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	6.132000	0.71419	3.545000	0.39022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	20.419	0.99035	668	0.61153	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2704.33	33	chr6	83138106	.	G	A	2704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=810;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.675;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	83140255	83140255	A	T	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon23:c.A5240T:p.E1747V,DOP1A:NM_015018:exon23:c.A5267T:p.E1756V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0137294937159	.	0.000199681	2.486e-05	0	0	0	0	3.009e-05	0	6.188e-05	2.59e-05	4	154602	rs202197480	2.464e-05	2.531e-05	1.498e-05	3.44e-05	0.0009	1.804e-05	1.601e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.619e-05	8.282e-05	9.284e-05	6.565e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.02	0.58613	D	0.449	0.36046	B	0.283	0.40424	B	0.000000	0.84330	D	0.045294	0.999994	0.58761	D	1.7	0.43825	L	1.77	0.25841	T	-3.36	0.66549	D	0.667	0.70439	-1.1405	0.01340	T	0.046	0.19599	T	10	0.41601387	0.56546	T	0.013729	0.33353	T	0.367	0.68670	.	.	0.110392049598	0.10638	0.5633002812899042	0.56257	0.336931717026	0.35691	0.491390824318	0.37631	T	0.207915	0.56769	T	0.0790591	0.61929	D	-0.0235836	0.68792	D	0.741109013557434	0.42796	D	0.968303	0.88511	D	0.3104172	0.53822	0.30042157	0.56076	0.3104172	0.53822	0.30042157	0.56075	-6.592	0.50992	T	.	.	0.402	0.60931	A	.;.;.	.;.;.	4.183327	0.62987	24.5	0.99063631236998206	0.51551	0.99239	0.93282	D	AEFBI	0.866403	0.78581	D	0.362991639802882	0.59430	4.122217	0.474562704168843	0.66310	4.935353	0.999994056582872	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	8.863000	0.91893	11.199000	0.88958	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.615	0.76509	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2343.33	34	chr6	83140255	.	A	T	2343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.627;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.57;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr6	83352101	83352101	G	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon4:c.C401G:p.A134G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0174298839709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0039	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0007	4.803e-05	0.0001	0.0001	4.058e-05	0.0008	0.0009	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.421	0.14075	T	0.121	0.26708	B	0.092	0.30031	B	0.020936	0.26936	N	0.457490	0.999111	0.81001	D	1.465	0.36909	L	0.93	0.44065	T	-1.58	0.38151	N	0.549	0.57518	-1.0932	0.05020	T	0.052	0.22114	T	10	0.39324778	0.55043	T	0.01743	0.39125	T	0.071	0.20720	0.433	0.48336	0.590228304998	0.58699	0.7456373293965067	0.74509	0.0422964412412	0.04561	0.445081591606	0.31272	T	0.185202	0.53810	T	-0.145968	0.28945	T	-0.44745	0.27978	T	0.611459136009216	0.36859	D	0.89921	0.64678	D	0.2825711	0.51294	0.16329293	0.37888	0.2825711	0.51294	0.16329293	0.37887	-6.758	0.52246	T	.	.	0.112	0.22061	B	.	.	2.730338	0.35734	19.98	0.96542643590327337	0.30193	0.96966	0.71921	D	AEFI	0.728759	0.67668	D	-0.180866953640128	0.33931	1.930802	-0.064166871410528	0.36883	2.152253	0.974719722080506	0.29567	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.76	4.88	0.63131	3.794000	0.55196	7.350000	0.58291	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:0.1371:0.8629:0.0	15.707	0.77352	746	0.52331	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	54.35	16	chr6	83352101	.	G	C	54.35	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.283;DP=657;ExcessHet=0.8031;FS=445.697;InbreedingCoeff=-0.1432;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.51;SOR=9.149	GT:AD:DP:GQ:PL	0/1:29,16:45:52:52,0,336	13	0	4	2
chr6	83556226	83556226	G	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001242794:exon19:c.C1730A:p.P577H,SNAP91:NM_001376739:exon20:c.C1898A:p.P633H,SNAP91:NM_001376738:exon21:c.C1940A:p.P647H,SNAP91:NM_001376733:exon25:c.C2462A:p.P821H,SNAP91:NM_001376734:exon25:c.C2462A:p.P821H,SNAP91:NM_001376736:exon25:c.C2441A:p.P814H,SNAP91:NM_001376716:exon26:c.C2525A:p.P842H,SNAP91:NM_001376717:exon26:c.C2510A:p.P837H,SNAP91:NM_001376718:exon26:c.C2495A:p.P832H,SNAP91:NM_001376719:exon26:c.C2483A:p.P828H,SNAP91:NM_001376731:exon26:c.C2468A:p.P823H,SNAP91:NM_001242793:exon27:c.C2561A:p.P854H,SNAP91:NM_001256718:exon27:c.C2279A:p.P760H,SNAP91:NM_001376687:exon27:c.C2630A:p.P877H,SNAP91:NM_001376695:exon27:c.C2603A:p.P868H,SNAP91:NM_001376696:exon27:c.C2603A:p.P868H,SNAP91:NM_001376697:exon27:c.C2603A:p.P868H,SNAP91:NM_001376698:exon27:c.C2603A:p.P868H,SNAP91:NM_001376701:exon27:c.C2588A:p.P863H,SNAP91:NM_001376702:exon27:c.C2567A:p.P856H,SNAP91:NM_001376703:exon27:c.C2567A:p.P856H,SNAP91:NM_001376704:exon27:c.C2567A:p.P856H,SNAP91:NM_001376705:exon27:c.C2567A:p.P856H,SNAP91:NM_001376706:exon27:c.C2567A:p.P856H,SNAP91:NM_001376707:exon27:c.C2567A:p.P856H,SNAP91:NM_001376708:exon27:c.C2561A:p.P854H,SNAP91:NM_001376709:exon27:c.C2561A:p.P854H,SNAP91:NM_001376710:exon27:c.C2561A:p.P854H,SNAP91:NM_001376711:exon27:c.C2561A:p.P854H,SNAP91:NM_001376713:exon27:c.C2552A:p.P851H,SNAP91:NM_001376714:exon27:c.C2552A:p.P851H,SNAP91:NM_001376728:exon27:c.C2471A:p.P824H,SNAP91:NM_001242792:exon28:c.C2651A:p.P884H,SNAP91:NM_001363677:exon28:c.C2636A:p.P879H,SNAP91:NM_001376675:exon28:c.C2645A:p.P882H,SNAP91:NM_001376676:exon28:c.C2645A:p.P882H,SNAP91:NM_001376677:exon28:c.C2645A:p.P882H,SNAP91:NM_001376678:exon28:c.C2645A:p.P882H,SNAP91:NM_001376679:exon28:c.C2645A:p.P882H,SNAP91:NM_001376680:exon28:c.C2645A:p.P882H,SNAP91:NM_001376681:exon28:c.C2645A:p.P882H,SNAP91:NM_001376682:exon28:c.C2645A:p.P882H,SNAP91:NM_001376683:exon28:c.C2642A:p.P881H,SNAP91:NM_001376684:exon28:c.C2642A:p.P881H,SNAP91:NM_001376685:exon28:c.C2630A:p.P877H,SNAP91:NM_001376686:exon28:c.C2630A:p.P877H,SNAP91:NM_001376688:exon28:c.C2630A:p.P877H,SNAP91:NM_001376689:exon28:c.C2630A:p.P877H,SNAP91:NM_001376690:exon28:c.C2630A:p.P877H,SNAP91:NM_001376691:exon28:c.C2630A:p.P877H,SNAP91:NM_001376692:exon28:c.C2630A:p.P877H,SNAP91:NM_001376693:exon28:c.C2624A:p.P875H,SNAP91:NM_001376694:exon28:c.C2621A:p.P874H,SNAP91:NM_001376699:exon28:c.C2600A:p.P867H,SNAP91:NM_001376700:exon28:c.C2600A:p.P867H,SNAP91:NM_001376723:exon28:c.C2471A:p.P824H,SNAP91:NM_001376726:exon28:c.C2471A:p.P824H,SNAP91:NM_014841:exon28:c.C2651A:p.P884H,SNAP91:NM_001256717:exon29:c.C2378A:p.P793H,SNAP91:NM_001376715:exon29:c.C2537A:p.P846H,SNAP91:NM_001376720:exon29:c.C2471A:p.P824H,SNAP91:NM_001376721:exon29:c.C2471A:p.P824H,SNAP91:NM_001376735:exon29:c.C2456A:p.P819H	.	.	.	.	.	.	.	.	.	.	.	2778853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.024804702198	.	.	3.36e-05	0	0	0	0	7.057e-05	0	0	1.94e-05	3	154602	rs774229973	4.089e-05	4.925e-05	3.906e-05	4.277e-05	4.867e-05	3.208e-05	2.934e-05	3.796e-05	3.442e-05	0	2.616e-05	0	0	0	0	4.867e-05	6.812e-05	0	1.326e-05	1.316e-05	1.293e-05	1.36e-05	2.949e-05	2.2e-06	8.3e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.90584	D	0.936	0.86255	D	0.000023	0.55875	D	0.119134	0.999933	0.51612	D	2.36	0.67893	M	1.78	0.26445	T	-2.21	0.49684	N	0.623	0.63798	-1.0024	0.29226	T	0.117	0.41165	T	10	0.4859947	0.60711	T	0.024805	0.47795	T	0.218	0.51265	.	.	0.340432005269	0.33650	0.2505951909950214	0.24973	0.607625513017	0.55570	0.744508087635	0.73636	T	0.028636	0.41409	T	-0.018208	0.49108	T	-0.263931	0.48430	T	0.449702351948695	0.30786	T	0.90041	0.75281	D	0.5151932	0.67982	0.55889183	0.74481	0.5151932	0.67983	0.55889183	0.74481	-10.155	0.74835	D	.	.	0.394	0.59251	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.415883	0.90635	31	0.9951425478880529	0.68799	0.96636	0.70140	D	AEFBI	0.926332	0.90727	D	0.812706337243854	0.86895	9.034294	0.804751948697162	0.90121	10.26571	0.900943010763535	0.26088	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.602000	0.90650	11.833000	0.97585	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.089	0.93200	748	0.52143	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	33	chr6	83556226	.	G	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=727;ExcessHet=0;FS=1.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.335;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr6	83859844	83859844	G	C	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon1:c.G62C:p.G21A	.	424	1094	4	0	0	4	0.00182482	.	.	.	2242372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0088451096139	0.0005	0.000399361	0.0006	0	0.0012	0	0.0002	0.0006	0	0.0011	0.0004786	74	154602	rs150617374	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0.0004	0	0	0.0004	0.0003	0.0006	0.0005	0.0011	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0005	7.216e-05	0	6.535e-05	0	0	9.411e-05	0	0.0007	0.0009	0.0012	0.872	0.02594	T	0.48	0.11899	T	0.005	0.12996	B	0.004	0.10090	B	0.045498	0.23532	N	0.473835	1	0.81001	D	-0.64	0.02118	N	1.05	0.39990	T	-1.54	0.37375	N	0.185	0.20129	-1.0351	0.18825	T	0.021	0.08963	T	10	0.017024666	0.00361	T	0.008845	0.23318	T	0.038	0.09825	.	.	0.503806528429	0.50018	0.2492801673720512	0.24842	0.153485859009	0.17316	0.431669950485	0.29437	T	0.101379	0.40809	T	-0.49261	0.00629	T	-0.530818	0.19206	T	0.0287526775046952	0.01800	T	0.765923	0.39354	T	0.054786	0.10559	0.069707625	0.14721	0.054786	0.10559	0.069707625	0.14720	-2.976	0.09925	T	.	.	0.083	0.09143	B	.	.	2.909796	0.38592	20.8	0.94334336941983299	0.24670	0.55696	0.29929	D	ALL	0.183795	0.31112	N	-0.56266951899855	0.20088	1.056403	-0.412339070845436	0.24634	1.350113	0.999999999999872	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.55	3.7	0.41607	3.406000	0.52386	6.258000	0.55339	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0774:0.274:0.5078:0.1409	4.926	0.13244	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	853.33	40	chr6	83859844	.	G	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.292;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	18	0	1	0
chr6	84089237	84089237	G	A	exonic	MRAP2	.	nonsynonymous SNV	MRAP2:NM_001346541:exon3:c.G116A:p.R39H,MRAP2:NM_001346544:exon4:c.G374A:p.R125H,MRAP2:NM_138409:exon4:c.G374A:p.R125H,MRAP2:NM_001346542:exon5:c.G374A:p.R125H,MRAP2:NM_001346543:exon5:c.G209A:p.R70H	.	432	1077	13	0	0	13	0.00599908	.	.	.	722158	not_provided|Body_mass_index_quantitative_trait_locus_18	MedGen:C3661900|MedGen:C3714940,OMIM:615457	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0227091376901	0.0007	0.000998403	0.0013	9.61e-05	0.0011	0	0	0.0013	0.0022	0.0031	0.0011643	180	154602	rs115655382	0.0010	0.0010	0.0010	0.0011	0.0088	0.0010	0.0010	0.0069	0.0062	0.0003	0.0011	0.0075	0	3.744e-05	0.0088	0.0008	0.0015	0.0033	0.0009	0.0009	0.0010	0.0009	0.0027	0.0008	0.0008	0.0016	0.0013	0.0001	0	0.0006	0.0069	0	9.436e-05	0.0034	0.0013	0.0005	0.0027	0.852	0.02725	T	0.444	0.13177	T	0.0	0.02946	B	0.0	0.01387	B	0.101071	0.19856	N	0.567744	0.999363	0.21303	N	-1.175	0.00869	N	-1.7	0.83072	D	1.32	0.00925	N	0.057	0.02861	-0.9121	0.46594	T	0.061	0.25492	T	10	0.0024435222	0.00036	T	0.022709	0.45623	T	0.112	0.31546	.	.	0.115124310173	0.11017	0.07573870651923251	0.07509	0.0807362003014	0.09083	0.206001698971	0.00653	T	0.016995	0.13941	T	-0.468062	0.00874	T	-0.447536	0.27969	T	0.0190209721956763	0.00611	T	0.744226	0.36418	T	0.031966757	0.03133	0.027701128	0.00943	0.031966757	0.03133	0.027701128	0.00943	-5.222	0.39165	T	.	.	0.056	0.00505	B	.	.	1.382483	0.17940	13.46	0.37176634600578984	0.02434	0.22009	0.21600	N	AEFDBI	0.028075	0.02407	N	-1.02619758246242	0.08063	0.3767438	-0.789500756822518	0.14753	0.7724695	0.0834012932862661	0.15927	0.562547	0.31514	0	0.573888	0.26702	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.33	1.42	0.21524	1.772000	0.38182	0.664000	0.20530	-0.244000	0.07312	0.711000	0.28732	0.060000	0.22018	0.890000	0.42831	0.7522:0.0:0.2478:0.0	8.615	0.32988	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.023392	0.000000	0.008621	0.000000	0.007576	0.02632	2022.33	34	chr6	84089237	.	G	A	2022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=771;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.664;SOR=0.843	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1248	18	0	1	0
chr6	84153023	84153023	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.G2923A:p.V975I,CEP162:NM_014895:exon23:c.G3151A:p.V1051I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00250861124224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs929031030	3.422e-05	3.42e-05	2.723e-05	4.127e-05	4.138e-05	2.632e-05	2.376e-05	3.171e-05	2.836e-05	0	0	0	0	3.749e-05	0	4.138e-05	3.314e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.558e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.558e-05	0	0	0	0	2.941e-05	0	0	0.505	0.07619	T	0.3	0.20357	T	0.003	0.11197	B	0.001	0.04355	B	0.079876	0.02342	N	1.875910	1	0.08975	N	0.55	0.14455	N	2.27	0.17431	T	-0.19	0.10480	N	0.042	0.07125	-0.9846	0.33927	T	0.008	0.02760	T	10	0.025091708	0.00714	T	0.002509	0.05009	T	0.011	0.01250	0.125	0.03095	0.0666544352282	0.05500	0.05561298688972731	0.05502	0.0160829664501	0.01538	0.238003194332	0.02613	T	0.011098	0.09944	T	-0.424775	0.01595	T	-0.847937	0.00986	T	0.0169541921677188	0.00446	T	0.483152	0.14651	T	0.023678016	0.01129	0.023108987	0.00326	0.023678016	0.01129	0.023108987	0.00326	-3.156	0.11951	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	-0.398422	0.02218	0.223	0.66884827922099976	0.08190	0.01091	0.04015	N	AEFBI	0.027755	0.02325	N	-1.58412433396166	0.01346	0.05863616	-1.61268335485511	0.01580	0.07164378	4.7045798492795E-4	0.07066	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.86	-4.09	0.03685	-0.326000	0.08008	-0.545000	0.08561	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.1595:0.2832:0.0828:0.4745	3.398	0.06890	562	0.71143	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2367.33	34	chr6	84153023	.	C	T	2367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=792;ExcessHet=0;FS=2.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.339;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.05263	1887.83	37	chr6	84171654	.	C	T	1887.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.437;DP=809;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=1.14;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	17	0	2	0
chr6	84185300	84185300	T	A	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon13:c.A1322T:p.K441I,CEP162:NM_014895:exon13:c.A1550T:p.K517I	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0448688146976	7.7e-05	0.000199681	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs138534182	1.847e-05	1.847e-05	1.77e-05	1.926e-05	2.987e-05	1.265e-05	1.084e-05	1.378e-05	1.151e-05	2.987e-05	2.236e-05	0	0	0	0	2.069e-05	3.313e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-05	2.942e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0	2.942e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.915859	0.36537	D	2.25	0.63811	M	1.64	0.27822	T	-3.41	0.68764	D	0.595	0.62950	-0.7983	0.55244	T	0.146	0.46967	T	10	0.5222887	0.62711	D	0.044869	0.61700	D	0.181	0.45247	.	.	0.357313475932	0.35345	0.47005365993746906	0.46924	0.129804655115	0.14634	0.508406817913	0.40000	T	0.180064	0.53127	T	-0.113517	0.34188	T	-0.219308	0.52803	T	0.906595826148987	0.56065	D	0.847215	0.52823	T	0.4568135	0.64473	0.3632826	0.61718	0.4568135	0.64473	0.3632826	0.61718	-5.283	0.40775	T	.	.	0.311	0.58634	B	.;.;.	.;.;.	3.748479	0.53721	23.4	0.99557273005918812	0.71521	0.87804	0.47470	D	AEFBI	0.336059	0.43429	N	0.658767819206445	0.76936	6.579459	0.613151760997444	0.75893	6.392024	0.0705829429464254	0.15533	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.34	5.34	0.75982	2.493000	0.44979	4.216000	0.42563	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:0.0:1.0	12.973	0.57923	590	0.68897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2374.33	33	chr6	84185300	.	T	A	2374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.115;DP=790;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.017;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	85572372	85572372	C	A	exonic;splicing	SNX14;SNX14	NM_001350543:exon3:c.106-1G>T;NM_001350537:exon3:c.262-1G>T;NM_001350533:exon3:c.262-1G>T;NM_001350535:exon3:c.262-1G>T;NM_001350539:exon3:c.106-1G>T;NM_001350534:exon3:c.262-1G>T	nonsynonymous SNV	SNX14:NM_001297614:exon3:c.G264T:p.Q88H,SNX14:NM_001304479:exon3:c.G108T:p.Q36H,SNX14:NM_001350536:exon3:c.G264T:p.Q88H,SNX14:NM_001350538:exon3:c.G264T:p.Q88H,SNX14:NM_001350540:exon3:c.G264T:p.Q88H,SNX14:NM_001350541:exon3:c.G264T:p.Q88H,SNX14:NM_001350542:exon3:c.G108T:p.Q36H,SNX14:NM_001350544:exon3:c.G108T:p.Q36H,SNX14:NM_020468:exon3:c.G264T:p.Q88H,SNX14:NM_153816:exon3:c.G264T:p.Q88H,SNX14:NM_001350532:exon4:c.G327T:p.Q109H	.	435	1073	11	3	0	17	0.00785945	.	.	.	722166	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0023	0.00419329	0.0035	0.0005	0.0008	0	0.0005	0.0027	0.0022	0.0137	0.003454	534	154602	rs113111730	0.0038	0.0038	0.0034	0.0042	0.0133	0.0037	0.0037	0.0127	0.0124	0.0006	0.0005	3.841e-05	0	0.0011	0.0033	0.0036	0.0036	0.0133	0.0023	0.0023	0.0023	0.0023	0.0128	0.0021	0.0020	0.0103	0.0094	0.0006	0	0.0007	0	0	0.0007	0	0.0036	0.0005	0.0128	0.124	0.91255	T	0.138	0.66756	T	0.0	0.02946	B	0.001	0.06944	B	0.000913	0.41128	D	0.249576	0.820921	0.36417	D	1.59	0.40313	L	1.79	0.25509	T	-1.13	0.45042	N	0.314	0.39052	-1.0128	0.26038	T	0.012	0.04558	T	10	0.004627049	0.00115	T	.	.	.	0.105	0.29889	0.174	0.08014	0.190952846119	0.18690	0.5103356433509191	0.50955	0.246411805978	0.27178	0.570708274841	0.48777	T	0.02301	0.32983	T	-0.548533	0.00298	T	-0.54903	0.17418	T	0.00756468879931535	0.00088	T	0.828517	0.49290	T	0.034969274	0.04029	0.04319166	0.05317	0.038538292	0.05153	0.036629345	0.03148	-3.483	0.18248	T	0.2720765865937368	0.36586	0.109	0.34071	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.078615	0.26438	17.12	0.74036028627606099	0.10546	0.13527	0.17907	N	AEFBI	0.110712	0.21945	N	-0.816094770836041	0.12899	0.6318107	-0.745995959004667	0.15820	0.83395	0.83903065159484	0.24832	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.53	-1.8	0.07480	-0.490000	0.06562	-0.180000	0.11141	0.549000	0.26987	0.094000	0.22667	0.384000	0.24630	0.992000	0.67800	0.0948:0.3949:0.0936:0.4167	4.099	0.09477	712	0.56465	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	856.33	33	chr6	85572372	.	C	A	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.727;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.356;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	18	0	1	0
chr6	87015870	87015870	A	G	exonic	HTR1E	.	nonsynonymous SNV	HTR1E:NM_000865:exon2:c.A536G:p.H179R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0143639653681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.211e-06	8.209e-06	9.531e-06	6.878e-06	1.079e-05	4.38e-06	3.46e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.267	0.22561	T	0.996	0.68779	D	0.967	0.71530	D	0.000005	0.62929	U	0.000000	0.990031	0.41073	D	1.205	0.30389	L	-0.61	0.71779	T	-2.36	0.52128	N	0.748	0.74735	-0.8106	0.54514	T	0.198	0.55286	T	10	0.8151314	0.80760	D	0.014364	0.34425	T	0.356	0.67691	0.627	0.76254	0.895932456608	0.89490	0.7426856871827446	0.74214	1.48240043888	0.86736	0.817247033119	0.84605	D	0.228391	0.59392	T	-0.0333288	0.46932	T	-0.285651	0.46223	T	0.825869006987383	0.48212	D	0.842916	0.51943	T	0.22776385	0.45483	0.21530588	0.46114	0.22776385	0.45483	0.21530588	0.46113	-5.309	0.40032	T	.	.	0.282	0.51506	B	.	.	3.683169	0.52433	23.2	0.99236147860408164	0.56373	0.97126	0.72841	D	AEFBI	0.781709	0.71321	D	0.192823994263012	0.50855	3.271572	0.143564189238264	0.46803	2.920298	3.298297361876E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.79	0.23992	8.719000	0.91169	6.091000	0.53446	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	0.7641:0.1531:0.0828:0.0	6.720	0.22511	809	0.43032	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3330.33	34	chr6	87015870	.	A	G	3330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.433;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.121;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1388	18	0	1	0
chr6	87258959	87258959	C	T	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.C5330T:p.S1777F,ZNF292:NM_001351444:exon9:c.C4910T:p.S1637F	.	437	1081	3	1	0	5	0.00230734	.	.	.	963618	not_provided|Intellectual_disability	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00370096954048	0.0003	0.000998403	0.0006	0	0.0004	0	0	0.0010	0	6.504e-05	0.0005175	80	154602	rs41273279	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	5.979e-05	0.0007	0.0005	0	1.875e-05	0.0016	0.0004	0.0007	1.161e-05	0.0006	0.0006	0.0005	0.0007	0.0020	0.0005	0.0004	0.0015	0.0013	2.405e-05	0	0.0020	0.0014	0	0	0.0034	0.0007	0.0014	0	0.048	0.40068	D	0.148	0.33109	T	0.001	0.07471	B	0.001	0.04355	B	0.228565	0.15972	N	0.650512	0.934	0.37076	D	0.805	0.20218	L	3.28	0.06523	T	-0.24	0.10833	N	0.125	0.26837	-0.9338	0.43575	T	0.005	0.01578	T	10	0.010340393	0.00230	T	0.003701	0.08558	T	0.063	0.18251	.	.	0.0934897674506	0.08844	0.3709085327064685	0.37004	.	.	0.323739498854	0.13987	T	0.031491	0.22066	T	-0.511367	0.00493	T	-0.580125	0.14534	T	0.0143269353637633	0.00286	T	0.70183	0.31167	T	0.05840593	0.11747	0.065047026	0.13126	0.05840593	0.11747	0.065047026	0.13126	-4.444	0.30149	T	0.07568557621655554	0.03392	0.110	0.21087	B	.;.	.;.	2.251421	0.28762	17.90	0.9541005240397018	0.26873	0.54381	0.29602	D	AEFGBCI	0.067269	0.13216	N	-0.142977356370361	0.35534	2.042268	0.0714813914225473	0.43123	2.62054	0.996824817227715	0.35039	0.732398	0.92422	0	0.743671	0.97443	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.59	4.5	0.54382	1.762000	0.38080	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.6867:0.0:0.3133	4.144	0.09674	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1526.33	62	chr6	87258959	.	C	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1323;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.917;SOR=0.756	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr6	87260932	87260932	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I	.	427	1012	79	4	0	87	0.0412127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00499201	0.0100	0.0022	0.0049	0.0001	0.0017	0.0104	0.0121	0.0245	0.0084087	1300	154602	rs61744959	0.0096	0.0096	0.0091	0.0100	0.0230	0.0094	0.0094	0.0222	0.0218	0.0019	0.0041	0.0017	0	0.0015	0.0193	0.0099	0.0093	0.0230	0.0063	0.0063	0.0065	0.0061	0.0201	0.0060	0.0058	0.0169	0.0157	0.0016	0	0.0041	0.0012	0	0.0009	0.0068	0.0103	0.0057	0.0201	0.406	0.10278	T	0.396	0.15206	T	0.006	0.13644	B	0.009	0.14300	B	0.461370	0.12387	N	0.768728	0.999999	0.08975	N	1.735	0.44892	L	3.34	0.06063	T	-0.22	0.10480	N	0.053	0.02462	-0.9008	0.47910	T	0.004	0.01400	T	10	0.0027675629	0.00043	T	.	.	.	0.033	0.08068	.	.	0.216943180021	0.21308	0.05458345058221593	0.05400	.	.	0.256128549576	0.04441	T	0.031842	0.22223	T	-0.710375	0.00032	T	-0.775596	0.02589	T	0.000202353479089497	0.00001	T	0.667533	0.27667	T	0.03097521	0.02854	0.028164731	0.01028	0.03119373	0.02914	0.028164731	0.01028	-3.79	0.20655	T	0.4322768024131565	0.51920	0.072	0.04198	B	.;.	.;.	0.563888	0.09324	6.105	0.75564123995781296	0.11124	0.51125	0.28823	D	AEFBCI	.	.	.	-0.591901078762334	0.19188	1.002366	-0.479853640002633	0.22708	1.234817	0.969723715095948	0.29151	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.52	2.71	0.31092	0.799000	0.26688	0.955000	0.22950	0.618000	0.50648	0.128000	0.23311	0.915000	0.28207	0.944000	0.48669	0.0713:0.1142:0.6677:0.1467	6.622	0.22002	824	0.40336	.;.	.	.	.	.	rs61744959	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.018630	0.000000	0.017663	0.011696	0.000000	0.000000	0.030488	0.030303	0.02632	1449.33	40	chr6	87260932	.	G	A	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=821;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.684;SOR=0.692	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1463,0,1253	18	0	1	0
chr6	87365206	87365206	A	T	exonic	C6orf163	.	nonsynonymous SNV	C6orf163:NM_001010868:exon5:c.A800T:p.Q267L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0178703898657	.	.	4.587e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs770366853	1.786e-05	1.71e-05	1.41e-05	2.173e-05	0.0005	1.226e-05	1.036e-05	0.0001	7.633e-05	0	0	0	0	0	0.0005	1.39e-05	0	8.834e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.151	0.60972	T	.	.	.	.	.	.	0.000077	0.52346	D	0.084010	0.984399	0.40139	D	2.42	0.70002	M	.	.	.	-3.27	0.65512	D	0.421	0.48134	-0.4404	0.70717	T	0.286	0.65773	T	7	0.19274971	0.35016	T	0.01787	0.39735	T	0.160	0.41473	0.273	0.22369	0.495172024023	0.49151	0.5065732039410608	0.50579	.	.	.	.	.	0.104972	0.41501	T	-0.116791	0.33650	T	-0.115395	0.62179	T	0.455506884923092	0.31000	T	0.690631	0.30012	T	0.23611952	0.46458	0.20180039	0.44176	0.23611952	0.46458	0.20180039	0.44175	-5.968	0.46011	T	.	.	0.286	0.53386	B	.;.	.;.	4.142681	0.62078	24.4	0.99498878377640787	0.67916	0.82570	0.41779	D	AEFDGBHCI	0.499567	0.53319	N	0.388962767840738	0.60824	4.275666	0.430862725942508	0.63498	4.584577	0.999999672655869	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	5.386000	0.65987	7.024000	0.57277	0.756000	0.94297	0.961000	0.33663	0.999000	0.35428	0.744000	0.35576	1.0:0.0:0.0:0.0	14.345	0.66218	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2869.83	34	chr6	87365206	.	A	T	2869.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=868;ExcessHet=0.119;FS=2.076;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.441;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	17	0	2	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,23:58:65:.:.:65,0,508:.	6	0	9	4
chr6	87612166	87612166	C	A	exonic	ORC3	.	nonsynonymous SNV	ORC3:NM_001197259:exon7:c.C362A:p.P121H,ORC3:NM_012381:exon8:c.C791A:p.P264H,ORC3:NM_181837:exon8:c.C791A:p.P264H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0262506414571	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288865200	4.106e-06	4.104e-06	1.362e-06	6.878e-06	6.958e-05	1.48e-06	9.7e-07	2.996e-05	2.038e-05	0	0	0	0	0	0	0	0	6.958e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	0.99	0.90584	D	0.837	0.78396	P	0.000000	0.84330	D	0.051545	1	0.81001	D	2.935	0.84639	M	1.9	0.23486	T	-7.08	0.93927	D	0.871	0.87590	-0.8215	0.53840	T	0.168	0.50729	T	10	0.8966813	0.89023	D	0.026251	0.49171	D	0.488	0.77592	0.726	0.86024	0.590875523517	0.58763	0.7108773517793953	0.71029	0.598596633043	0.55023	0.711433649063	0.68800	T	0.147898	0.48619	T	0.168611	0.70994	D	0.105051	0.77242	D	0.992096543312073	0.82494	D	0.933007	0.75346	D	0.7769444	0.82466	0.7441116	0.84874	0.7769444	0.82468	0.7441116	0.84875	-11.734	0.83532	D	.	.	0.435	0.61449	A	.;.;.	.;.;.	4.739462	0.76411	26.5	0.99728935166521249	0.82619	0.99108	0.91343	D	AEFDBI	0.887884	0.82051	D	0.867751369130882	0.90094	10.251	0.835888681006405	0.92163	11.27206	0.9999999825536	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	7.814000	0.84682	7.641000	0.63200	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.575	0.95431	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	33	chr6	87612166	.	C	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.754;DP=779;ExcessHet=0;FS=2.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.222;SOR=0.73	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	18	0	1	0
chr6	89081399	89081399	C	T	exonic	PNRC1	.	nonsynonymous SNV	PNRC1:NM_006813:exon1:c.C505T:p.P169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00459265	0	.	0	.	.	0	.	0	0.0011142	29	26028	rs2231275	0.0003	0.0003	0.0003	0.0003	0.0135	0.0003	0.0003	0.0123	0.0118	0.0135	0.0012	0	0	0	0.0006	3.03e-06	0.0007	4.119e-05	0.0031	0.0031	0.0032	0.0029	0.0110	0.0029	0.0028	0.0101	0.0098	0.0110	0	0.0006	0	0	0	0	1.473e-05	0.0019	0	0.091	0.31834	T	0.34	0.18018	T	0.11	0.26188	B	0.05	0.25278	B	0.974389	0.07800	N	1.011270	0.759367	0.34020	D	1.355	0.33814	L	0.72	0.50976	T	-0.33	0.12472	N	0.163	0.17140	-1.0392	0.17556	T	0.039	0.16978	T	10	0.004592508	0.00096	T	.	.	.	0.027	0.05988	.	.	0.158540857583	0.15491	0.16811430994186338	0.16731	0.608241247554	0.55603	0.721310853958	0.70237	T	0.049234	0.28249	T	-0.552248	0.00283	T	-0.556647	0.16694	T	0.0815341905707356	0.10182	T	0.475352	0.14216	T	0.024744451	0.01337	0.064487346	0.12933	0.024744451	0.01337	0.064487346	0.12933	-4.438	0.30069	T	.	.	0.092	0.13456	B	.	.	0.773758	0.11435	8.045	0.65473224480516767	0.07782	0.70477	0.34606	D	ALL	0.114305	0.22519	N	-0.657083257022795	0.17254	0.8862924	-0.629160284850161	0.18745	1.00275	0.999999988336696	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.49	2.61	0.30255	0.768000	0.26252	.	.	-0.343000	0.05659	0.009000	0.18154	.	.	0.010000	0.09038	0.0:0.7392:0.1685:0.0923	7.347	0.25844	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	321.36	19	chr6	89081399	.	C	T	321.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=364;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-2.107;SOR=0.339	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,562	18	0	1	0
chr6	89201251	89201251	C	T	exonic	GABRR1	.	nonsynonymous SNV	GABRR1:NM_001256703:exon2:c.G137A:p.R46Q,GABRR1:NM_002042:exon3:c.G188A:p.R63Q	.	411	1103	7	1	0	9	0.00406321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0991215686085	0.0005	0.00119808	0.0006	9.61e-05	0	0	0	0.0002	0	0.0033	0.0005369	83	154602	rs146686910	0.0003	0.0003	0.0002	0.0003	0.0033	0.0003	0.0002	0.0024	0.0022	0	4.472e-05	0	5.038e-05	1.872e-05	0.0033	0.0001	0.0004	0.0026	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	0.0001	0	6.535e-05	0	0	0	0	0.0002	0.0005	0.0031	0.049	0.45039	D	0.108	0.38305	T	0.343	0.33512	B	0.034	0.22741	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.905	0.50856	L	-1.41	0.81235	T	-0.52	0.16187	N	0.387	0.44952	-0.7129	0.59810	T	0.226	0.59007	T	9	0.008397967	0.00190	T	0.099122	0.77055	D	0.358	0.67872	.	.	0.882881467586	0.88173	0.544791983429149	0.54405	0.390474098581	0.40258	0.535864591599	0.43862	T	0.044673	0.26888	T	-0.137643	0.30264	T	0.0252048	0.71966	D	0.0791536852860436	0.09877	T	0.940606	0.77652	D	0.21910615	0.44435	0.21415694	0.45955	0.21910615	0.44434	0.21415694	0.45954	-3.922	0.24370	T	.	.	0.139	0.30502	B	.;.	.;.	3.660424	0.51996	23.2	0.99895651120305862	0.96895	0.95930	0.66770	D	AEFDI	0.754596	0.69442	D	0.102063328607325	0.46557	2.894403	0.290237437716933	0.54969	3.660478	0.999999999592019	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.852000	0.55642	1.384000	0.26059	0.599000	0.40250	1.000000	0.71638	0.930000	0.28522	0.998000	0.85391	0.0:1.0:0.0:0.0	19.998	0.97395	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1914.33	34	chr6	89201251	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.881;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.399;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1432	18	0	1	0
chr6	89264438	89264438	G	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon8:c.C1060A:p.R354S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0847092647642	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775816767	4.105e-06	4.788e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	1.159e-05	6.577e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.087	0.40747	T	.	.	.	.	.	.	0.001838	0.37892	N	0.278142	0.999635	0.47961	D	2.84	0.82582	M	-1.79	0.83815	D	.	.	.	0.531	0.55972	-0.8418	0.52527	T	0.170	0.51133	T	8	0.34374163	0.51380	T	0.084709	0.74382	D	0.147	0.38986	.	.	0.843524094599	0.84203	0.6822162623633249	0.68160	0.26906606016	0.29422	0.306420713663	0.11366	T	0.226384	0.59139	T	-0.0742624	0.40642	T	-0.175321	0.56956	T	0.608260691165924	0.36730	D	0.993301	0.97813	D	0.10011685	0.23636	0.12320467	0.29711	0.10011685	0.23636	0.12320467	0.29711	-13.089	0.89726	D	.	.	0.577	0.67944	P	.	.	2.125653	0.27058	17.33	0.9898379861240556	0.49800	0.30554	0.24112	N	AEFBI	0.309799	0.41600	N	-0.524405461726412	0.21293	1.128949	-0.552573707070059	0.20738	1.118655	5.7022630595245E-4	0.07335	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	-0.548	0.11241	-0.124000	0.10571	-0.022000	0.12912	-0.244000	0.07312	0.005000	0.17040	0.000000	0.08366	0.669000	0.33223	0.2467:0.0:0.3493:0.4039	4.946	0.13341	902	0.24074	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3503.33	40	chr6	89264438	.	G	T	3503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=956;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0;QD=13.63;ReadPosRankSum=1.22;SOR=0.559	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr6	89265642	89265642	C	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon7:c.G860A:p.R287H	.	419	1097	5	1	0	7	0.00318037	.	.	.	2253864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0156123209126	0.0004	0.000399361	0.0005	9.61e-05	0.0008	0	0	0.0006	0.0011	0.0005	0.0005045	78	154602	rs74529557	0.0004	0.0004	0.0004	0.0005	0.0080	0.0004	0.0004	0.0061	0.0055	0.0003	0.0010	3.827e-05	2.52e-05	0	0.0080	0.0004	0.0009	0.0003	0.0005	0.0005	0.0005	0.0004	0.0011	0.0004	0.0003	0.0007	0.0006	9.624e-05	0	0.0011	0	0	0	0.0102	0.0006	0.0014	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	0.000007	0.62929	N	0.148471	0.999713	0.48481	D	1.255	0.31814	L	-2.09	0.86077	D	.	.	.	0.36	0.40164	-0.9687	0.37468	T	0.114	0.40605	T	8	0.047377884	0.04049	T	0.015612	0.36438	T	0.099	0.28413	.	.	0.863850240467	0.86253	0.6242270559348848	0.62355	0.194380720479	0.21778	0.248048335314	0.03565	T	0.119236	0.44062	T	-0.389919	0.02694	T	-0.400344	0.33344	T	0.0386358872056007	0.03444	T	0.80472	0.45238	T	0.07583913	0.17113	0.14301969	0.34005	0.07583913	0.17112	0.14301969	0.34004	-8.951	0.67381	D	.	.	0.235	0.46825	B	.	.	2.445339	0.31476	18.75	0.98550227747727059	0.42833	0.87704	0.47333	D	AEFBI	0.356870	0.44810	N	-0.0748548186322868	0.38498	2.255715	0.0599880693048118	0.42555	2.576128	0.0319895884635855	0.14031	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.83	3.59	0.40253	2.058000	0.41001	0.136000	0.15109	-0.171000	0.11205	1.000000	0.71638	0.964000	0.29435	0.985000	0.61073	0.0:0.7953:0.0:0.2047	10.585	0.44467	905	0.23532	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.025253	0.005435	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	2766.33	36	chr6	89265642	.	C	T	2766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=965;ExcessHet=0;FS=5.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.02;SOR=1.026	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr6	89387554	89387554	T	C	exonic	RRAGD	.	nonsynonymous SNV	RRAGD:NM_021244:exon2:c.A185G:p.K62R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0459605129201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.139	0.33666	T	0.006	0.13644	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-1.6	0.82165	D	-1.95	0.45222	N	0.611	0.62781	-0.7933	0.55537	T	0.198	0.55286	T	10	0.42910653	0.57372	T	0.045961	0.62234	D	0.237	0.54074	0.379	0.39482	0.666911227615	0.66410	0.5154736576222827	0.51470	0.625558543375	0.56729	0.884754538536	0.94591	D	0.320705	0.69187	T	0.0848412	0.62603	D	-0.115908	0.62136	T	0.65753719078742	0.38788	D	0.915808	0.69967	D	0.39994615	0.60729	0.4226091	0.66157	0.39994615	0.60729	0.4226091	0.66157	-7.448	0.57243	T	.	.	0.146	0.32226	B	.	.	3.914373	0.57101	23.8	0.99662368132531831	0.78011	0.99435	0.95993	D	ALL	0.942153	0.94637	D	-0.0677014115021785	0.38816	2.279244	0.177463500570098	0.48615	3.075023	1.0	0.98316	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	7.645000	0.82580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.796	0.78181	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	40	chr6	89387554	.	T	C	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.418;SOR=0.783	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	89662847	89662849	TCC	-	exonic	MDN1	.	nonframeshift deletion	MDN1:NM_014611:exon86:c.14355_14357del:p.E4786del	.	411	1109	2	0	0	2	0.000900901	.	.	.	3203838	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	.	0.0029	0.0003	0.0011	0	0.0011	0.0046	0.0033	0.0010	0.0004995	13	26028	rs575474661	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0058	0.0057	0.0007	0.0023	0.0002	0	0.0013	0.0016	0.0059	0.0045	0.0010	0.0032	0.0032	0.0036	0.0027	0.0053	0.0030	0.0029	0.0049	0.0047	0.0009	0.0121	0.0037	0	0	0.0009	0	0.0053	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	3622.29	36	chr6	89662846	.	TTCC	T	3622.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=831;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=-0.411;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1404	18	0	1	0
chr6	89695954	89695954	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon61:c.G9422A:p.R3141Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2675247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0149761768461	.	.	4.314e-05	0	8.709e-05	0.0001	0	4.72e-05	0	0	3.23e-05	5	154602	rs754468370	8.706e-05	8.687e-05	9.546e-05	7.857e-05	0.0002	7.436e-05	6.984e-05	8.594e-05	8.072e-05	0	0	0	0.0001	0	0.0002	0.0001	6.639e-05	4.643e-05	4.601e-05	4.597e-05	5.141e-05	4.036e-05	8.82e-05	2.11e-05	1.527e-05	3.762e-05	2.575e-05	2.414e-05	0	0	0	0	0	0	8.82e-05	0	0	0.036	0.43393	D	.	.	.	0.223	0.30377	B	0.014	0.16862	B	0.001423	0.39044	N	0.159814	0.97432	0.25498	N	2.43	0.70455	M	4.01	0.03208	T	-1.98	0.45769	N	0.384	0.42541	-0.9246	0.44915	T	0.004	0.01295	T	10	0.14272198	0.27105	T	0.014976	0.35442	T	0.045	0.12272	.	.	0.338947837391	0.33504	0.31688004104208944	0.31601	0.227066095518	0.25258	0.244251012802	0.03186	T	0.01745	0.14237	T	-0.356661	0.04322	T	-0.485667	0.23846	T	0.100121345368674	0.12371	T	0.592841	0.21881	T	0.106943786	0.25287	0.082354106	0.18789	0.106943786	0.25287	0.082354106	0.18788	-2.731	0.07567	T	.	.	0.091	0.13268	B	.;.	.;.	2.774030	0.36418	20.2	0.99735387581618618	0.83119	0.72980	0.35706	D	AEFBI	0.130543	0.24913	N	-0.277113697224131	0.30034	1.670986	-0.185392697172084	0.32072	1.821109	0.927476741901194	0.26890	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	2.993000	0.49114	2.733000	0.34404	0.599000	0.40250	0.111000	0.23011	0.976000	0.30059	0.264000	0.23619	0.0:0.9199:0.0:0.0801	11.931	0.52131	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	45	chr6	89695954	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.782;SOR=0.698	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1210,0,824	18	0	1	0
chr6	89749260	89749260	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon26:c.A3725G:p.Y1242C	.	426	1086	10	0	0	10	0.00458295	.	.	.	3213514	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.0313913090217	0.0025	0.00159744	0.0030	0.0005	0.0022	0.0001	0.0088	0.0037	0.0044	0.0013	0.0027684	428	154602	rs116229207	0.0026	0.0026	0.0025	0.0026	0.0045	0.0025	0.0025	0.0032	0.0027	0.0004	0.0023	0.0042	0	0.0081	0.0045	0.0025	0.0029	0.0015	0.0029	0.0029	0.0026	0.0032	0.0034	0.0027	0.0026	0.0029	0.0027	0.0007	0	0.0034	0.0066	0.0002	0.0098	0.0068	0.0032	0.0038	0.0010	0.001	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.971	0.72444	D	0.000011	0.62929	D	0.069074	0.999991	0.58761	D	3.585	0.93597	H	1.08	0.39401	T	-7.49	0.96114	D	0.726	0.72746	-0.3588	0.73298	T	0.268	0.63897	T	10	0.011338592	0.00248	T	0.031391	0.53482	D	0.523	0.79765	.	.	0.627166375196	0.62412	0.7458621553051547	0.74532	0.727410881426	0.62567	0.820598423481	0.85119	D	0.109892	0.42414	T	-0.0303542	0.47366	T	0.187627	0.82434	D	0.0656396319132975	0.08026	T	0.957904	0.87188	D	0.75075895	0.80912	0.71425563	0.83137	0.75075895	0.80914	0.71425563	0.83138	-9.591	0.71424	D	.	.	0.251	0.59511	B	.;.;.	.;.;.	3.874912	0.56279	23.7	0.99292491841649066	0.58326	0.97294	0.73849	D	AEFBI	0.699993	0.65716	D	0.726621447372549	0.81377	7.508034	0.62714239370836	0.76916	6.580402	0.967168621128335	0.28957	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	5.731000	0.68201	7.703000	0.66393	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.500	0.75421	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1041.33	33	chr6	89749260	.	T	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.53;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr6	89781454	89781454	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon10:c.G1588A:p.E530K	.	426	1081	15	0	0	15	0.00689022	.	.	.	3211660	MDN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.158	.	.	0.00738818	0.0041	0.0002	0.0002	0	0	0.0002	0.0044	0.0288	0.0036028	557	154602	rs541485676	0.0017	0.0017	0.0009	0.0025	0.0259	0.0017	0.0016	0.0250	0.0246	0	0.0003	3.826e-05	2.519e-05	0	0.0035	0.0001	0.0015	0.0259	0.0009	0.0009	0.0004	0.0015	0.0277	0.0008	0.0008	0.0239	0.0225	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0277	0.583	0.05936	T	0.845	0.03558	T	0.294	0.32391	B	0.191	0.36391	B	0.000052	0.53742	D	0.165787	0.993363	0.41917	D	2.885	0.83555	M	4.05	0.16794	T	-0.92	0.39119	N	0.591	0.61087	-1.0477	0.15045	T	0.009	0.03011	T	10	0.004194349	0.00083	T	.	.	.	0.158	0.41098	.	.	0.401208672323	0.39738	0.36181159390552403	0.36095	0.195003835191	0.21838	0.420248866081	0.27869	T	0.006624	0.06047	T	-0.428569	0.01512	T	-0.367436	0.37190	T	0.070458642551729	0.08715	T	0.856014	0.54441	D	0.08783694	0.20468	0.102219954	0.24493	0.08783694	0.20468	0.102219954	0.24493	-4.158	0.26141	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	2.891625	0.38301	20.7	0.98014480548616889	0.37582	0.84961	0.44058	D	AEFBCI	0.135125	0.25537	N	-0.262637099284151	0.30601	1.707877	-0.160471697672017	0.33007	1.883656	0.829261178074684	0.24663	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	4.71	0.59010	2.554000	0.45507	3.717000	0.39574	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.779:0.1458:0.0752	9.367	0.37390	632	0.64850	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.026515	0.02632	2441.33	34	chr6	89781454	.	C	T	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.738;SOR=0.67	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1489	18	0	1	0
chr6	89862497	89862497	G	A	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon7:c.G788A:p.R263Q,CASP8AP2:NM_001137668:exon7:c.G788A:p.R263Q,CASP8AP2:NM_012115:exon7:c.G788A:p.R263Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.348e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs200917530	2.139e-05	1.779e-05	2.121e-05	2.159e-05	0.0002	1.488e-05	1.265e-05	1.51e-05	1.289e-05	0	0	0	0	0	0.0002	2.307e-05	4.545e-05	1.202e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23463932	0.40508	T	.	.	.	.	.	.	.	0.725308686764	0.72288	0.09281310918753018	0.09213	.	.	0.194469794631	0.00314	T	0.013021	0.11342	T	-0.200156	0.20783	T	-0.417629	0.31348	T	.	.	.	0.776122	0.40827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.18289	B	.;.;.	.;.;.	2.826584	0.37253	20.4	0.62850827127624964	0.07069	0.74221	0.36306	D	ALL	.	.	.	.	.	.	.	.	.	0.999995270435996	0.74766	0.423476	0.06517	0	0.410168	0.06389	1	0.343423	0.05949	0	0.322829	0.05601	0	0.141427	0.26771	5.75	4.87	0.62877	4.057000	0.57168	5.850000	0.50329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.3123:0.0:0.6877:0.0	6.519	0.21461	561	0.71236	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3889.83	35	chr6	89862497	.	G	A	3889.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.73;DP=908;ExcessHet=0.119;FS=0.415;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.619;SOR=0.733	GT:AD:DP:GQ:PL	0/1:81,73:154:99:2089,0,2059	17	0	2	0
chr6	89868265	89868265	C	T	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_001137668:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_012115:exon8:c.C4975T:p.P1659S	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0291534	0.0105	0.0008	0.0177	0.1085	0.0023	0.0008	0.0090	0.0023	0.0101874	1575	154602	rs3799896	0.0028	0.0024	0.0030	0.0027	0.1067	0.0028	0.0027	0.1026	0.1009	0.0005	0.0164	0.0018	0.1067	0.0023	0.0013	0.0004	0.0072	0.0027	0.0060	0.0060	0.0057	0.0062	0.1050	0.0056	0.0055	0.0977	0.0948	0.0007	0	0.0136	0.0017	0.1050	0.0014	0	0.0008	0.0080	0.0069	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016213357	0.00019	T	.	.	.	.	.	.	.	.	.	0.22571940090601839	0.22486	.	.	0.248459517956	0.03608	T	0.010839	0.09742	T	-0.589003	0.00170	T	-0.531986	0.19090	T	.	.	.	0.649435	0.26018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.	.	0.185563	0.05725	2.170	0.6524254116240058	0.07718	0.07235	0.13259	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.0107814309476636	0.12081	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.322829	0.05601	0	0.331571	0.35722	5.63	0.726	0.17401	-0.384000	0.07447	-0.007000	0.13116	0.549000	0.26987	0.001000	0.13787	0.005000	0.19230	0.800000	0.37734	0.176:0.3171:0.0:0.5069	3.758	0.08118	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	3755.83	141	chr6	89868265	.	C	T	3755.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.43;DP=918;ExcessHet=0.119;FS=6.257;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.526;SOR=0.764	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr6	89868470	89868470	A	G	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon8:c.A5180G:p.N1727S,CASP8AP2:NM_001137668:exon8:c.A5180G:p.N1727S,CASP8AP2:NM_012115:exon8:c.A5180G:p.N1727S	.	.	.	.	.	.	.	.	.	.	.	3644319	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	2.495e-05	0.0001	0	0	0	3.011e-05	0	0	1.94e-05	3	154602	rs752010391	1.728e-05	1.436e-05	2.284e-05	1.162e-05	7.605e-05	1.11e-05	9.42e-06	1.258e-05	8.03e-06	7.605e-05	0	0	0	0	0	1.677e-05	4.545e-05	1.202e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.413e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07937622	0.12762	T	.	.	.	.	.	.	.	0.450248222533	0.44647	0.07625601542884668	0.07561	.	.	0.255521208048	0.04371	T	0.007892	0.07266	T	-0.425254	0.01585	T	-0.666478	0.07835	T	.	.	.	0.563744	0.19863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01555	B	.	.	-1.727322	0.00184	0.003	0.52415974026087286	0.04744	0.07798	0.13794	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999847689807216	0.43971	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.322829	0.05601	0	0.299624	0.34757	5.62	-10.8	0.00171	-0.644000	0.05512	-1.050000	0.06486	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.2934:0.1131:0.5935:0.0	12.395	0.54710	573	0.70213	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2165.33	40	chr6	89868470	.	A	G	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=860;ExcessHet=0;FS=2.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.659;SOR=0.808	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	89895498	89895498	G	A	exonic	GJA10	.	nonsynonymous SNV	GJA10:NM_032602:exon1:c.G1030A:p.A344T	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0357630933945	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs146279798	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.299	0.14546	T	0.7	0.05727	T	0.001	0.07471	B	0.005	0.11217	B	0.894470	0.08664	N	0.949495	1	0.08975	N	0.425	0.12573	N	-4.5	0.97650	D	-0.56	0.17003	N	0.012	0.00125	-0.1905	0.77915	T	0.614	0.86367	D	10	0.0659962	0.08986	T	0.035763	0.56560	D	0.181	0.45247	.	.	0.728184078372	0.72577	0.045983232994362994	0.04542	0.0354639617203	0.03741	0.260590314865	0.04961	T	0.122291	0.44586	T	-0.107686	0.35150	T	-0.39246	0.34263	T	0.0422316342592239	0.04097	T	0.349165	0.07749	T	0.03142957	0.02981	0.04213541	0.04949	0.03142957	0.02980	0.04213541	0.04948	-3.55	0.17139	T	.	.	0.067	0.02960	B	.;.	.;.	-0.099320	0.03644	0.727	0.60904447019342423	0.06577	0.02585	0.07140	N	ALL	0.050275	0.08772	N	-1.2008806023086	0.04988	0.2263507	-1.20027848446662	0.05906	0.2827481	0.999895316093514	0.45129	0.520426	0.21595	0	0.563428	0.19063	0	0.440796	0.06475	0	0.825845	0.99933	0	.	.	5.08	1.34	0.21018	0.167000	0.16419	0.262000	0.16556	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.227:0.0:0.6352:0.1378	5.677	0.17028	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2126.33	33	chr6	89895498	.	G	A	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.642;DP=839;ExcessHet=0;FS=2.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-3.298;SOR=0.518	GT:AD:DP:GQ:PL	0/1:113,84:197:99:2140,0,3165	18	0	1	0
chr6	96203322	96203322	C	A	exonic	FUT9	.	nonsynonymous SNV	FUT9:NM_006581:exon3:c.C167A:p.T56N	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00333785972147	0.0017	0.000199681	0.0010	0.0003	0.0007	0	0.0002	0.0014	0	0.0005	0.0009896	153	154602	rs139267189	0.0016	0.0017	0.0017	0.0016	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0008	0.0004	0	0.0002	0.0054	0.0020	0.0013	0.0006	0.0009	0.0009	0.0011	0.0008	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0009	0.0009	0.0002	0.0002	0	0.0015	0.0005	0.0012	0.575	0.06086	T	0.637	0.07037	T	0.002	0.09854	B	0.007	0.12992	B	0.076778	0.21143	N	0.517876	0.635579	0.32829	D	0.845	0.21182	L	1.72	0.26588	T	0.69	0.02195	N	0.066	0.03841	-1.0005	0.29774	T	0.010	0.03765	T	10	0.011121839	0.00244	T	0.003338	0.07451	T	0.064	0.18567	.	.	0.400613892164	0.39671	0.6917805625318851	0.69118	0.794022330084	0.65958	0.43852096796	0.30375	T	0.060997	0.31538	T	-0.63064	0.00095	T	-0.683574	0.06768	T	0.00743562119244462	0.00086	T	0.667533	0.27667	T	0.10546963	0.24937	0.08583739	0.19848	0.10546963	0.24937	0.08583739	0.19847	-2.927	0.09416	T	.	.	0.076	0.05935	B	.	.	1.214695	0.16082	12.30	0.8232744117708064	0.14135	0.95016	0.63133	D	AEFBI	0.439505	0.49845	N	-0.464386232651446	0.23255	1.247501	-0.240693411146143	0.30094	1.691459	2.14368860426715E-5	0.03498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.65	2.69	0.30923	3.446000	0.52692	4.012000	0.41171	0.599000	0.40250	0.997000	0.40164	0.902000	0.27988	0.998000	0.85391	0.0:0.7259:0.2741:0.0	14.605	0.68069	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1697.33	35	chr6	96203322	.	C	A	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=750;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-1.044;SOR=0.83	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1209	18	0	1	0
chr6	96799533	96799533	G	A	exonic	GPR63	.	nonsynonymous SNV	GPR63:NM_030784:exon2:c.C199T:p.P67S,GPR63:NM_001143957:exon3:c.C199T:p.P67S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00399335167219	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764841521	3.42e-06	3.42e-06	2.722e-06	4.125e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.462	0.08685	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	0.356183	0.13740	N	0.666373	1	0.08975	N	-0.205	0.04094	N	1.31	0.35405	T	0.15	0.05310	N	0.013	0.00142	-0.9526	0.40520	T	0.010	0.03719	T	10	0.040436983	0.02613	T	0.003993	0.09462	T	0.014	0.01968	0.365	0.37199	0.110392049598	0.10638	0.278817273603436	0.27794	0.104387959458	0.11810	0.221001565456	0.01368	T	0.016247	0.13465	T	-0.383692	0.02953	T	-0.773437	0.02657	T	0.0201288458678648	0.00714	T	0.59684	0.22194	T	0.019623252	0.00496	0.028038146	0.01004	0.019623252	0.00496	0.028038146	0.01004	-3.259	0.13214	T	.	.	0.077	0.06341	B	.	.	0.091161	0.04949	1.518	0.60094880880285984	0.06380	0.10216	0.15784	N	AEFBI	0.124987	0.24129	N	-1.36216619623936	0.03000	0.1333617	-1.3279554054356	0.04072	0.1913386	2.81445149955121E-4	0.06355	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.15	-3.11	0.04975	-0.220000	0.09220	0.643000	0.20338	-0.194000	0.09177	0.001000	0.13787	0.103000	0.22699	0.944000	0.48669	0.2582:0.0:0.3975:0.3443	4.877	0.13021	753	0.51500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1824.33	33	chr6	96799533	.	G	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=833;ExcessHet=0;FS=4.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.008;SOR=1.029	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr6	96897762	96897762	G	T	exonic	NDUFAF4	.	nonsynonymous SNV	NDUFAF4:NM_014165:exon1:c.C40A:p.L14I	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1516	6	0	0	6	0.00197498	.	.	.	363734	not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_15	MedGen:C3661900|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.225	.	0.0026	0.00399361	0.0011	0.0100	0.0004	0	0	0.0002	0	0.0003	0.0010737	166	154602	rs145392673	0.0005	0.0005	0.0005	0.0005	0.0123	0.0005	0.0004	0.0113	0.0109	0.0123	0.0008	3.827e-05	2.519e-05	1.872e-05	0.0040	0.0001	0.0012	0.0002	0.0030	0.0030	0.0031	0.0029	0.0100	0.0028	0.0027	0.0092	0.0089	0.0100	0	0.0008	0.0003	0	0	0.0204	0.0002	0.0043	0	0.389	0.10874	T	0.352	0.17372	T	0.464	0.36423	P	0.269	0.39840	B	0.066496	0.21807	N	0.445812	0.999996	0.08975	N	1.66	0.42513	L	-1.69	0.82985	D	0.55	0.02721	N	0.264	0.29889	-0.8218	0.53821	T	0.181	0.52828	T	10	0.009006768	0.00204	T	.	.	.	0.225	0.52323	.	.	0.549755530797	0.54631	0.1266799801355582	0.12593	0.27574349694	0.30050	0.367328107357	0.20447	T	0.181019	0.53255	T	-0.471525	0.00832	T	-0.440695	0.28730	T	0.0158139411097374	0.00369	T	0.567543	0.20130	T	0.048122223	0.08337	0.04957487	0.07604	0.06107211	0.12605	0.04665401	0.06548	-3.039	0.10607	T	0.21626097022916105	0.29088	0.072	0.04396	B	.	.	0.427045	0.07975	4.689	0.74331208204364396	0.10656	0.19196	0.20566	N	ALL	0.138192	0.25941	N	-1.52812575056773	0.01667	0.07291566	-1.69745980284526	0.01148	0.05166493	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.65	-6.78	0.01559	-0.870000	0.04336	-0.089000	0.12081	-2.034000	0.00428	0.082000	0.22389	0.185000	0.23452	0.744000	0.35576	0.2381:0.3524:0.326:0.0835	4.185	0.09856	581	0.69614	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.016304	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	1768.33	33	chr6	96897762	.	G	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=792;ExcessHet=0;FS=1.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.957;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr6	98905596	98905596	G	C	exonic	FBXL4	.	nonsynonymous SNV	FBXL4:NM_012160:exon5:c.C933G:p.S311R,FBXL4:NM_001278716:exon6:c.C933G:p.S311R	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	431215	Mitochondrial_DNA_depletion_syndrome_13	MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0098791098875	.	.	3.3e-05	9.615e-05	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs778207313	4.789e-06	4.788e-06	4.084e-06	5.501e-06	8.116e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.297	0.20551	T	0.005	0.12996	B	0.091	0.29943	B	0.002049	0.37364	N	0.346611	0.902101	0.27680	N	-0.61	0.02200	N	0.97	0.42502	T	-0.23	0.10656	N	0.441	0.47949	-0.9705	0.37094	T	0.015	0.06090	T	10	0.22981733	0.39918	T	0.009879	0.25743	T	0.059	0.16972	0.636	0.77251	0.455448229734	0.45171	0.48239128119452596	0.48159	0.0719830884204	0.08067	0.302910923958	0.10836	T	0.027272	0.20009	T	-0.236942	0.15742	T	-0.481273	0.24311	T	0.291244236129326	0.24641	T	0.79582	0.43907	T	0.08321806	0.19207	0.070602134	0.15022	0.08321806	0.19207	0.070602134	0.15021	-2.095	0.03562	T	0.05622221443371707	0.01294	0.196	0.41738	B	.;.	.;.	2.260744	0.28888	17.94	0.98444753417689801	0.41553	0.86405	0.45679	D	AEFDBCIJ	0.445234	0.50179	N	-0.419255822323602	0.24795	1.341317	-0.177864690575929	0.32351	1.839748	0.0274520520520445	0.13774	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.64	3.86	0.43689	3.637000	0.54065	4.509000	0.43640	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.3181:0.0:0.6819:0.0	7.046	0.24223	821	0.40814	F-box domain|F-box domain;F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2514.33	40	chr6	98905596	.	G	C	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=872;ExcessHet=0;FS=7.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.281;SOR=1.111	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1258	18	0	1	0
chr6	99369613	99369613	T	-	exonic	COQ3	.	frameshift deletion	COQ3:NM_017421:exon7:c.1097delA:p.K366Sfs*2	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	9.653e-05	0.0010	0	0.0003	0.0006	0.0011	0.0011	0.0001921	5	26028	rs747897261	0.0006	0.0006	0.0005	0.0006	0.0073	0.0005	0.0005	0.0055	0.0049	0.0004	0.0012	0.0008	0	0.0001	0.0073	0.0005	0.0010	0.0012	0.0004	0.0004	0.0003	0.0005	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0	0.0014	0.0003	0	0.0002	0	0.0003	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.009146	0.000000	0.02632	519.29	40	chr6	99369612	.	CT	C	519.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.874;DP=586;ExcessHet=0;FS=4.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.022;SOR=0.165	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	18	0	1	0
chr6	99400715	99400715	C	T	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.G2189A:p.S730N,PNISR:NM_001322408:exon11:c.G2243A:p.S748N,PNISR:NM_001322413:exon11:c.G2243A:p.S748N,PNISR:NM_001322414:exon11:c.G2189A:p.S730N,PNISR:NM_015491:exon11:c.G2243A:p.S748N,PNISR:NM_001322405:exon12:c.G2243A:p.S748N,PNISR:NM_001322410:exon12:c.G2243A:p.S748N,PNISR:NM_001322412:exon12:c.G2243A:p.S748N,PNISR:NM_032870:exon12:c.G2243A:p.S748N,PNISR:NM_001322406:exon13:c.G2243A:p.S748N	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00648118169912	0.0039	0.00159744	0.0041	0.0013	0.0016	0	0.0042	0.0063	0.0044	0.0005	0.003978	615	154602	rs150453789	0.0052	0.0052	0.0053	0.0050	0.0061	0.0051	0.0050	0.0060	0.0059	0.0007	0.0029	0.0004	0	0.0059	0.0003	0.0061	0.0042	0.0006	0.0037	0.0037	0.0037	0.0037	0.0055	0.0035	0.0034	0.0050	0.0048	0.0012	0	0.0054	0	0	0.0048	0	0.0055	0.0047	0.0006	0.0	0.91255	D	0.116	0.36497	T	0.59	0.39078	P	0.333	0.42166	B	0.000000	0.84330	D	0.037732	1	0.81001	D	0.975	0.24501	L	.	.	.	-1.06	0.27669	N	0.237	0.27792	-0.9061	0.47320	T	0.124	0.42820	T	9	0.0067364275	0.00153	T	0.006481	0.17072	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.028676196240876656	0.02817	0.314442072564	0.33727	0.719128131866	0.69920	T	0.030485	0.21597	T	-0.400893	0.02284	T	-0.34067	0.40269	T	0.0521780411319698	0.05879	T	0.842916	0.51943	T	0.6248412	0.74022	0.5477151	0.73853	0.6248412	0.74023	0.5477151	0.73854	-4.536	0.31356	T	.	.	0.119	0.25000	B	.;.;.	.;.;.	3.750229	0.53753	23.4	0.98171867708047988	0.38865	0.97916	0.78101	D	AEFBI	0.618530	0.60430	D	0.305529441201352	0.56434	3.807886	0.427541922094277	0.63288	4.559461	0.999999997188226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	5.512000	0.66748	7.509000	0.59594	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.392	0.94578	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1576.33	110	chr6	99400715	.	C	T	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=1.27;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr6	99401262	99401262	T	C	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.A1642G:p.I548V,PNISR:NM_001322408:exon11:c.A1696G:p.I566V,PNISR:NM_001322413:exon11:c.A1696G:p.I566V,PNISR:NM_001322414:exon11:c.A1642G:p.I548V,PNISR:NM_015491:exon11:c.A1696G:p.I566V,PNISR:NM_001322405:exon12:c.A1696G:p.I566V,PNISR:NM_001322410:exon12:c.A1696G:p.I566V,PNISR:NM_001322412:exon12:c.A1696G:p.I566V,PNISR:NM_032870:exon12:c.A1696G:p.I566V,PNISR:NM_001322406:exon13:c.A1696G:p.I566V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0012752501839	7.7e-05	0.000599042	0.0001	9.63e-05	0	0	0	1.5e-05	0	0.0010	0.0001358	21	154602	rs371964421	6.567e-05	6.567e-05	5.717e-05	7.426e-05	0.0007	5.495e-05	5.107e-05	0.0005	0.0005	0	0	0	0	1.873e-05	0	2.608e-05	0.0001	0.0007	3.303e-05	3.288e-05	2.587e-05	4.051e-05	0.0008	1.266e-05	8.02e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.478e-05	0	0.0008	1.0	0.00964	T	0.511	0.10785	T	0.0	0.02946	B	0.002	0.06944	B	0.097756	0.02518	N	1.681770	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.16	0.05217	N	0.07	0.04307	-1.0235	0.22573	T	0.012	0.04558	T	9	0.010415435	0.00232	T	0.001275	0.01733	T	0.171	0.43483	.	.	0.0675242888579	0.06100	0.11100241480597728	0.11029	0.283479733959	0.30790	0.382581472397	0.22622	T	0.00373	0.03140	T	-0.550633	0.00289	T	-0.620071	0.11180	T	0.00611718005227483	0.00067	T	0.611339	0.23205	T	0.015280719	0.00131	0.021099519	0.00174	0.015280719	0.00131	0.021099519	0.00173	-2.687	0.07194	T	.	.	0.060	0.00904	B	.;.;.	.;.;.	-0.204174	0.03070	0.478	0.71272278881807005	0.09573	0.58139	0.30562	D	AEFBI	0.086226	0.17483	N	-0.948342552559302	0.09729	0.4617823	-0.852067695970643	0.13238	0.6856271	0.0161190127601242	0.12793	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-4.13	0.03639	0.783000	0.26463	-2.901000	0.03247	-0.175000	0.10903	0.933000	0.32380	0.000000	0.08366	0.941000	0.48210	0.0:0.3245:0.4185:0.257	8.154	0.30321	558	0.71484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2630.33	41	chr6	99401262	.	T	C	2630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=827;ExcessHet=0;FS=4.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.966;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr6	99439801	99439801	C	T	exonic	USP45	.	nonsynonymous SNV	USP45:NM_001346024:exon14:c.G1954A:p.D652N,USP45:NM_001346025:exon14:c.G1951A:p.D651N,USP45:NM_001346028:exon15:c.G1048A:p.D350N,USP45:NM_001080481:exon16:c.G2128A:p.D710N,USP45:NM_001346021:exon16:c.G2128A:p.D710N,USP45:NM_001346022:exon16:c.G2128A:p.D710N,USP45:NM_001346023:exon16:c.G2125A:p.D709N,USP45:NM_001346026:exon16:c.G2128A:p.D710N,USP45:NM_001346027:exon16:c.G1048A:p.D350N,USP45:NM_001346029:exon16:c.G1048A:p.D350N	.	461	1057	4	0	0	4	0.00188857	.	.	.	2193757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0624785499716	0.0008	0.000399361	0.0008	0.0002	0.0006	0	0	0.0013	0.0022	0	0.0006792	105	154602	rs146738523	0.0005	0.0005	0.0005	0.0006	0.0160	0.0005	0.0005	0.0134	0.0124	0.0004	0.0004	0.0079	2.547e-05	0	0.0160	0.0003	0.0015	5.877e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	9.629e-05	0	0.0014	0.0124	0	0	0	0.0004	0.0038	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	3.8	0.37578	T	-4.49	0.78046	D	0.95	0.95841	-0.8794	0.49809	T	0.131	0.44208	T	10	0.083295226	0.13841	T	0.062479	0.68667	D	0.407	0.71946	.	.	0.700181430328	0.69758	0.6828722455899846	0.68226	0.472402484298	0.46483	0.639965474606	0.58559	T	0.045446	0.27124	T	-0.33609	0.05664	T	-0.359753	0.38081	T	0.270075410604477	0.23750	T	0.992201	0.97531	D	0.7858302	0.83014	0.6891622	0.81713	0.7858302	0.83016	0.6891622	0.81714	-7.95	0.60728	D	.	.	0.379	0.58999	A	.;.;.	.;.;.	5.273587	0.88551	29.6	0.99924349384527	0.98980	0.98016	0.78896	D	AEFBI	0.853125	0.77007	D	0.518155591278173	0.68164	5.179647	0.515449400128914	0.69026	5.302291	0.990661078754338	0.32229	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	4.77	0.60425	7.290000	0.78067	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.93:0.0:0.07	14.596	0.67998	681	0.59854	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010595	0.005051	0.013587	0.020588	0.000000	0.017241	0.003067	0.003788	0.02632	130.33	33	chr6	99439801	.	C	T	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.036;DP=629;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.063;SOR=0.829	GT:AD:DP:GQ:PL	0/0:29,0:29:87:0,87,867	18	0	1	0
chr6	99921217	99921217	A	G	exonic	MCHR2	.	nonsynonymous SNV	MCHR2:NM_001040179:exon6:c.T746C:p.L249S,MCHR2:NM_032503:exon6:c.T746C:p.L249S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0170585271207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.005	0.72224	D	0.943	0.53072	P	0.811	0.58656	P	0.000136	0.49741	D	0.000000	0.909255	0.36367	D	1.68	0.43186	L	1.08	0.39401	T	-2.83	0.59710	D	0.535	0.59308	-0.8943	0.48549	T	0.120	0.41971	T	10	0.6049487	0.67121	D	0.017059	0.38601	T	0.308	0.62947	0.594	0.72371	0.841903298536	0.84039	0.44096597141579424	0.44013	0.457118577895	0.45357	0.61709022522	0.55317	T	0.291077	0.66384	T	0.116807	0.66050	D	-0.0699911	0.65627	T	0.983211040496826	0.74964	D	0.669833	0.27843	T	0.30973274	0.53763	0.30906862	0.56923	0.30973274	0.53763	0.30906862	0.56922	-6.214	0.48036	T	.	.	0.747	0.74926	P	.;.	.;.	4.082994	0.60747	24.3	0.99822596374668127	0.90502	0.99364	0.95061	D	AEFI	0.866351	0.78574	D	0.610738470962459	0.73852	6.034449	0.616032815269675	0.76103	6.429913	0.473732226921075	0.20729	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.882000	0.69458	5.347000	0.48362	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	12.769	0.56785	486	0.77016	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	45.33	38	chr6	99921217	.	A	G	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.387;DP=1267;ExcessHet=0;FS=45.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.92;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	18	0	1	0
chr6	100848335	100848335	T	C	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_001284271:exon4:c.A614G:p.Q205R,ASCC3:NM_006828:exon4:c.A614G:p.Q205R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00635842603952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.15717	T	0.517	0.11621	T	0.0	0.02946	B	0.0	0.01387	B	0.994012	0.07921	N	1.002150	0.998569	0.22071	N	1.79	0.46772	L	0.5	0.57100	T	-0.41	0.27259	N	0.064	0.03613	-1.0125	0.26133	T	0.061	0.25346	T	10	0.09805471	0.17703	T	0.006358	0.16725	T	0.058	0.16647	0.263	0.20788	0.469660041277	0.46594	0.4046439729015787	0.40380	0.264603378519	0.29004	0.28036609292	0.07543	T	0.004527	0.03938	T	-0.193989	0.21674	T	-0.516428	0.20658	T	0.134975671768188	0.15834	T	0.50265	0.15781	T	0.048084572	0.08324	0.065614425	0.13325	0.048084572	0.08323	0.065614425	0.13325	-3.6	0.18656	T	.	.	0.070	0.05935	B	.;.	.;.	1.697192	0.21620	15.28	0.94824989979640262	0.25599	0.49816	0.28520	N	AEFDBI	0.128753	0.24665	N	-0.43122710321271	0.24381	1.316061	-0.31862742903645	0.27497	1.526215	0.013874506607473	0.12522	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	4.28	0.50183	1.546000	0.35787	1.151000	0.24481	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.970000	0.54328	0.1772:0.078:0.0:0.7448	6.204	0.19807	664	0.61548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1822.33	33	chr6	100848335	.	T	C	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.24;DP=802;ExcessHet=0;FS=2.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-2.105;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr6	105278158	105278158	C	T	exonic	PREP	.	nonsynonymous SNV	PREP:NM_002726:exon15:c.G2119A:p.D707N	.	431	1088	3	0	0	3	0.00137678	.	.	.	2756706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00628331849249	.	0.000199681	8.39e-05	9.711e-05	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs554298353	7.343e-05	7.388e-05	7.773e-05	6.907e-05	8.976e-05	6.201e-05	5.76e-05	7.157e-05	6.647e-05	8.976e-05	4.48e-05	0	0	0	0	8.57e-05	9.976e-05	1.162e-05	7.223e-05	7.217e-05	5.139e-05	9.403e-05	0.0001	3.969e-05	3.126e-05	4.766e-05	3.339e-05	9.621e-05	0	0	0	0	0	0	0.0001	0	0	0.257	0.16738	T	0.47	0.12246	T	0.001	0.07471	B	0.004	0.10090	B	0.014153	0.28619	N	0.457587	0.72544	0.33662	D	0.055	0.08163	N	1.55	0.29866	T	-0.07	0.08033	N	0.196	0.21580	-1.0110	0.26604	T	0.015	0.05897	T	10	0.12900534	0.24544	T	0.006283	0.16493	T	0.049	0.13647	0.526	0.63115	0.082315109003	0.07666	.	.	0.452032423143	0.44933	0.347523033619	0.17557	T	0.138805	0.47249	T	-0.450799	0.01117	T	-0.64865	0.09048	T	0.0552132874727249	0.06393	T	0.90371	0.66210	D	0.15983026	0.35883	0.07907844	0.17769	0.15983026	0.35882	0.07907844	0.17769	-4.127	0.25687	T	.	.	.	.	.	.	.	3.139030	0.42451	21.5	0.99069307381346206	0.51692	0.93870	0.59429	D	AEFBI	0.264860	0.38211	N	-0.353324660416733	0.27150	1.487303	-0.117148576917088	0.34697	1.998908	0.107839776909109	0.16566	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	2.321000	0.43465	5.956000	0.51737	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.944000	0.48669	0.0:0.7965:0.1336:0.0698	10.468	0.43806	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1257.33	34	chr6	105278158	.	C	T	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=726;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.05;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,49:98:99:0|1:105278158_C_T:1271,0,1216:105278158	18	0	1	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	77.33	39	chr6	106519808	.	A	G	77.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.326;DP=939;ExcessHet=0;FS=119.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=0.893;SOR=7.378	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1343	18	0	1	0
chr6	106521245	106521245	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G2813A:p.R938Q,CRYBG1:NM_001371242:exon4:c.G4037A:p.R1346Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	2721183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0207242581316	.	0.000199681	0.0002	0	0	0	0	5.997e-05	0	0.0010	0.0001488	23	154602	rs533984443	8.415e-05	8.482e-05	4.629e-05	0.0001	0.0014	7.204e-05	6.751e-05	0.0007	0.0006	0	6.715e-05	0	0	0	0.0014	3.058e-05	0.0001	0.0008	5.253e-05	5.25e-05	2.57e-05	8.057e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.989e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0006	0.796	0.03150	T	0.695	0.05825	T	0.026	0.19406	B	0.001	0.04355	B	0.035439	0.01802	N	2.005430	1	0.08975	N	.	.	.	-0.59	0.71543	T	0.06	0.06253	N	0.101	0.08366	-0.9969	0.30783	T	0.071	0.28839	T	10	0.011152446	0.00245	T	0.020724	0.43370	T	0.130	0.35528	0.137	0.04097	0.376745185316	0.37282	0.16236669328791242	0.16156	0.0961814065405	0.10851	0.179782688618	0.00092	T	0.003754	0.03161	T	-0.502288	0.00555	T	-0.579784	0.14565	T	0.0188529453861857	0.00596	T	0.769823	0.39947	T	0.024019854	0.01194	0.029655674	0.01328	0.024019854	0.01193	0.029655674	0.01328	-2.918	0.09324	T	.	.	0.071	0.03925	B	.;.	.;.	0.385964	0.07578	4.233	0.94236536917203162	0.24498	0.01805	0.05629	N	AEFGBHCI	0.042459	0.06590	N	-1.16705077320391	0.05505	0.2511356	-1.16547056946295	0.06495	0.3128043	0.999999999886556	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	-2.73	0.05599	-0.006000	0.12769	-0.962000	0.06776	0.676000	0.76740	0.016000	0.19238	0.000000	0.08366	0.678000	0.33484	0.6713:0.0:0.3287:0.0	12.323	0.54317	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2128.33	39	chr6	106521245	.	G	A	2128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=846;ExcessHet=0;FS=0.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-2.201;SOR=0.608	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1343	18	0	1	0
chr6	106555849	106555849	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon15:c.G4443A:p.M1481I,CRYBG1:NM_001371242:exon17:c.G5667A:p.M1889I	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.0941362744861	7.7e-05	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0018	0.0002264	35	154602	rs374909027	0.0001	0.0001	6.67e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	2.987e-05	8.944e-05	0	0	0	0.0003	1.889e-05	0.0002	0.0017	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.96e-05	0.0011	0.0009	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0021	0.004	0.65419	D	0.0	0.92824	D	0.987	0.61912	D	0.953	0.69275	D	0.000000	0.84330	D	0.034664	1	0.81001	D	.	.	.	-0.97	0.75670	T	-3.62	0.69593	D	0.756	0.84713	-0.0534	0.81134	T	0.540	0.83056	D	10	0.087102264	0.14870	T	0.094136	0.76198	D	0.736	0.90808	0.824	0.93592	0.898140056634	0.89712	0.5861213917238782	0.58542	0.478301125626	0.46915	0.546212255955	0.45322	T	0.407476	0.76308	T	0.0474211	0.58011	T	0.288077	0.87551	D	0.155494347006623	0.17532	T	0.860614	0.55382	D	0.78316563	0.82848	0.74334973	0.84829	0.78316563	0.82850	0.74334973	0.84830	-9.583	0.71375	D	.	.	0.618	0.70515	P	.;.;.	.;.;.	4.089163	0.60890	24.3	0.99707613183118571	0.81074	0.94540	0.61497	D	AEFBCIJ	0.665104	0.63404	D	0.779407125538222	0.84802	8.390551	0.754863333210179	0.86519	8.915599	0.999999999701195	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	6.278000	0.72640	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.428	0.94741	719	0.55657	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1761.33	39	chr6	106555849	.	G	A	1761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=2.11;SOR=0.659	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	18	0	1	0
chr6	106587707	106587707	C	G	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_001318746:exon7:c.G662C:p.G221A,RTN4IP1:NM_032730:exon7:c.G962C:p.G321A	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	432	1078	10	2	0	14	0.00645161	.	.	YES	859454	Retinal_dystrophy|not_provided|Optic_atrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0111272992217	7.7e-05	0.000199681	0.0007	0	0.0002	0	0	0.0002	0.0011	0.0043	0.0005757	89	154602	rs145695118	0.0004	0.0004	0.0002	0.0006	0.0059	0.0004	0.0003	0.0045	0.0043	0.0001	6.709e-05	0	0	0	0.0059	6.926e-05	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.216e-05	0	0.0001	0	0	0	0	0.0001	0	0.0027	0.56	0.06381	T	0.794	0.04142	T	0.585	0.38912	P	0.179	0.35808	B	0.000001	0.84330	D	0.095627	0.999991	0.81001	D	0.14	0.08730	N	1.06	0.39781	T	-0.27	0.11366	N	0.294	0.33250	-1.0738	0.08598	T	0.039	0.16935	T	10	0.008723468	0.00198	T	0.011127	0.28436	T	0.188	0.46444	.	.	0.377097596864	0.37317	0.796562215481821	0.79609	0.452195566295	0.44952	0.530304789543	0.43078	T	0.017298	0.14140	T	-0.505285	0.00534	T	-0.497767	0.22580	T	0.0457334771042511	0.04735	T	0.883212	0.60517	D	0.4897794	0.66490	0.36920756	0.62195	0.4897794	0.66490	0.36920756	0.62195	-3.888	0.22122	T	0.153122664218272	0.18190	0.081	0.08465	B	.	.	3.085182	0.41523	21.4	0.76432185195278002	0.11466	0.93025	0.57137	D	AEFDBI	0.487827	0.52641	N	0.114390587134181	0.47135	2.943376	0.287825068648412	0.54826	3.646716	0.99999995555624	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	4.787000	0.62125	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.860	0.99763	859	0.33891	Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.015337	0.003788	0.02632	2243.33	34	chr6	106587707	.	C	G	2243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=807;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.413;SOR=0.597	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1454	18	0	1	0
chr6	106629014	106629014	A	T	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_032730:exon1:c.T8A:p.F3Y	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00649228389482	.	.	5.054e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs771913211	9.603e-06	9.577e-06	8.185e-06	1.104e-05	0.0002	5.57e-06	4.36e-06	8.898e-05	7.063e-05	0	0	0	0	0	0	0	1.662e-05	0.0002	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.49613	D	0.075	0.44302	T	0.072	0.31372	B	0.026	0.29179	B	0.602544	0.05655	N	1.192100	0.999959	0.19072	N	1.39	0.34934	L	1.96	0.45636	T	-0.47	0.15178	N	0.285	0.35938	-0.9754	0.36037	T	0.041	0.17446	T	10	0.095012575	0.16939	T	0.006492	0.17100	T	0.055	0.15663	0.243	0.17677	0.302459207581	0.29844	0.31097550345042907	0.31010	0.171963429046	0.19365	0.399641335011	0.25019	T	0.025061	0.18811	T	-0.341645	0.05275	T	-0.491857	0.23196	T	0.244938850402832	0.22645	T	0.586841	0.21439	T	0.072769985	0.16213	0.06806256	0.14163	0.072769985	0.16212	0.06806256	0.14162	-4.663	0.32953	T	.	.	0.099	0.21353	B	.;.	.;.	2.573364	0.33351	19.31	0.97402655609860767	0.33780	0.41166	0.26597	N	ALL	0.105794	0.21129	N	-0.264942695279258	0.30511	1.701976	-0.138546324415143	0.33852	1.94085	0.999999826458992	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.85	4.68	0.58319	1.391000	0.34083	7.906000	0.73790	0.756000	0.94297	0.862000	0.30648	0.989000	0.31174	0.823000	0.38780	0.8319:0.1681:0.0:0.0	10.123	0.41808	713	0.56348	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	151.33	40	chr6	106629014	.	A	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=-1.544;SOR=0.437	GT:AD:DP:GQ:PL	0/0:36,0:36:81:0,81,1215	18	0	1	0
chr6	107459275	107459275	C	G	exonic	PDSS2	.	nonsynonymous SNV	PDSS2:NM_020381:exon1:c.G11C:p.R4P	Coenzyme Q10 deficiency, primary, 3, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	142393	not_provided|Kidney_disorder|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.157	.	0.0024	0.0241613	0.0145	0.0044	0.0190	0.1223	0.0236	0.0022	0.0213	0.0068	0.0128912	1993	154602	rs3734676	0.0058	0.0058	0.0058	0.0057	0.1031	0.0057	0.0056	0.1005	0.0994	0.0040	0.0165	0.0002	0.1031	0.0232	0.0012	0.0007	0.0111	0.0085	0.0088	0.0089	0.0075	0.0103	0.1164	0.0085	0.0083	0.1087	0.1057	0.0051	0	0.0094	0	0.1164	0.0231	0	0.0010	0.0138	0.0095	0.0	0.91255	D	0.094	0.50809	T	0.0	0.11197	B	0.001	0.11217	B	0.210257	0.16383	N	0.606092	0.509735	0.31657	P	0.895	0.22405	L	-0.74	0.73205	T	-0.96	0.31375	N	0.118	0.10769	-1.0732	0.08724	T	0.107	0.39027	T	9	0.0021348894	0.00031	T	.	.	.	0.157	0.40909	.	.	.	.	0.7632919470598469	0.76277	1.56442157667	0.88085	0.411633312702	0.26683	T	0.141287	0.47627	T	-0.389213	0.02722	T	-0.235138	0.51271	T	0.0630561155304963	0.07640	T	0.431557	0.11736	T	0.48596865	0.66260	0.32896096	0.58780	0.44288084	0.63589	0.35287103	0.60857	-5.192	0.38860	T	.	.	0.140	0.30791	B	.;.	.;.	2.685896	0.35051	19.79	0.9948452771320363	0.67069	0.12137	0.17082	N	ALL	0.357630	0.44859	N	-0.593922435938182	0.19129	0.9986997	-0.480685444171749	0.22686	1.233445	0.999999997873428	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	1.17	0.19998	-0.356000	0.07711	-0.819000	0.07303	-0.202000	0.08738	0.893000	0.31264	0.001000	0.17328	0.901000	0.43729	0.0:0.5462:0.1727:0.281	4.122	0.09581	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.018939	0.05263	2451.81	36	chr6	107459275	.	C	G	2451.81	.	AC=2;AF=0.053;AN=38;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.07;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1235:.	18	1	0	0
chr6	107459279	107459279	A	G	exonic	PDSS2	.	nonsynonymous SNV	PDSS2:NM_020381:exon1:c.T7C:p.F3L	Coenzyme Q10 deficiency, primary, 3, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	142392	not_provided|not_specified|Kidney_disorder	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.0241613	0.0145	0.0044	0.0190	0.1224	0.0236	0.0022	0.0213	0.0068	0.0128912	1993	154602	rs3734675	0.0058	0.0058	0.0058	0.0057	0.1031	0.0057	0.0056	0.1005	0.0994	0.0040	0.0165	0.0002	0.1031	0.0232	0.0012	0.0007	0.0111	0.0085	0.0088	0.0089	0.0074	0.0103	0.1165	0.0085	0.0083	0.1088	0.1057	0.0051	0	0.0094	0	0.1165	0.0231	0	0.0010	0.0137	0.0095	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.065873	0.21850	N	0.452937	0.999999	0.08975	P	-0.895	0.01383	N	-0.37	0.68892	T	0.94	0.01529	N	0.042	0.01498	-1.0286	0.20908	T	0.026	0.11131	T	9	0.0016657114	0.00020	T	.	.	.	0.103	0.29403	0.107	0.01868	.	.	0.4038196387786051	0.40297	1.29723427444	0.82929	0.492638885975	0.37804	T	0.059756	0.31203	T	-0.551265	0.00287	T	-0.467914	0.25742	T	0.0446702100960615	0.04542	T	0.267173	0.04416	T	0.064943574	0.13830	0.07265999	0.15702	0.081193656	0.18642	0.12288539	0.29638	-2.381	0.05593	T	.	.	0.129	0.28319	B	.;.	.;.	2.186362	0.27874	17.61	0.7247576596209323	0.09987	0.00288	0.01547	N	ALL	0.026495	0.01998	N	-0.838437304885245	0.12336	0.600679	-0.581886924545139	0.19965	1.073591	0.999999999692805	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.95	4.05	0.46415	2.168000	0.42051	2.055000	0.30365	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.2065:0.0:0.7935:0.0	7.351	0.25862	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.018939	0.05263	2416.81	36	chr6	107459279	.	A	G	2416.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.87;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1235:.	18	1	0	0
chr6	107707952	107707952	C	T	exonic	SCML4	.	nonsynonymous SNV	SCML4:NM_001286409:exon3:c.G307A:p.A103T,SCML4:NM_001286408:exon6:c.G859A:p.A287T,SCML4:NM_198081:exon7:c.G1033A:p.A345T	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00858301019451	.	0.000399361	4.71e-05	0	0	0.0017	0	0	0	0	2.59e-05	4	154602	rs575790237	8.147e-05	7.867e-05	7.756e-05	8.549e-05	0.0007	6.894e-05	6.416e-05	0.0003	0.0003	3.165e-05	0.0002	0	0.0005	2.032e-05	0.0007	6.395e-05	0.0002	1.262e-05	8.536e-05	8.531e-05	0.0001	6.716e-05	0.0004	4.954e-05	3.96e-05	6.857e-05	3.046e-05	0.0001	0	0.0001	0	0.0004	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	0.837	0.07015	T	0.0	0.02946	B	0.001	0.04355	B	0.029820	0.25400	N	0.382739	0.998937	0.22276	N	-1.56	0.00457	N	0.85	0.47130	T	1.88	0.00544	N	0.033	0.01068	-1.0010	0.29631	T	0.014	0.05417	T	10	0.009048402	0.00205	T	0.008583	0.22680	T	0.054	0.15330	0.358	0.36060	0.20549828249	0.20151	0.22678872173209427	0.22593	0.14773765096	0.16671	0.288555026054	0.08712	T	0.005947	0.05392	T	-0.652888	0.00070	T	-0.745983	0.03644	T	0.0368130745021653	0.03123	T	0.566543	0.20051	T	0.024495635	0.01287	0.04979614	0.07685	0.024495635	0.01287	0.04979614	0.07685	0.992	0.00133	T	.	.	0.059	0.00890	B	.;.;.	.;.;.	1.749326	0.22256	15.55	0.72215472875842623	0.09896	0.26600	0.23039	N	AEFDBI	0.069402	0.13736	N	-0.830688185573312	0.12529	0.611357	-0.553484068655384	0.20713	1.11725	0.480272500865104	0.20780	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	3.0	0.33773	3.116000	0.50092	3.415000	0.38214	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.1464:0.0:0.8536	9.351	0.37298	754	0.51307	.;Sterile alpha motif domain|Sterile alpha motif domain;Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001147	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2364.33	234	chr6	107707952	.	C	T	2364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=1260;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.16;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	18	0	1	0
chr6	108510260	108510260	A	G	exonic	AFG1L	.	nonsynonymous SNV	AFG1L:NM_145315:exon11:c.A1111G:p.I371V	.	428	1039	53	2	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0038	0.0109824	0.0085	0.0014	0.0153	0.0012	0.0106	0.0049	0.0254	0.0250	0.0080141	1239	154602	rs138360237	0.0058	0.0059	0.0053	0.0064	0.0241	0.0057	0.0057	0.0232	0.0229	0.0011	0.0147	0.0006	0.0012	0.0094	0.0200	0.0042	0.0075	0.0241	0.0053	0.0053	0.0043	0.0063	0.0253	0.0050	0.0049	0.0216	0.0203	0.0014	0	0.0129	0	0.0023	0.0096	0.0306	0.0042	0.0080	0.0253	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.007	0.12992	B	0.000350	0.45440	N	0.189072	0.956236	0.26305	N	.	.	.	.	.	.	0.33	0.03889	N	0.131	0.12627	-0.9152	0.46194	T	0.008	0.02760	T	9	0.004039049	0.00078	T	.	.	.	0.056	0.15993	.	.	0.220303561663	0.21668	0.38883931469493593	0.38798	0.139313257321	0.15699	0.31643050909	0.12880	T	0.036745	0.24220	T	-0.516199	0.00463	T	-0.496007	0.22762	T	0.00023669731066395	0.00001	T	0.776522	0.40874	T	0.024594076	0.01307	0.02439755	0.00459	0.024594076	0.01307	0.02439755	0.00459	-3.216	0.12677	T	.	.	0.059	0.00820	B	.	.	0.295188	0.06710	3.220	0.52620152398608877	0.04782	0.12184	0.17112	N	AEFI	0.031337	0.03327	N	-0.776105234991012	0.13934	0.6901691	-0.528624764618231	0.21377	1.156134	0.207699325675775	0.18201	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.45	2.46	0.29032	1.514000	0.35441	0.797000	0.21623	-0.054000	0.16847	0.994000	0.38300	0.151000	0.23179	0.992000	0.67800	0.0827:0.2689:0.6484:0.0	8.828	0.34226	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.002717	0.020468	0.000000	0.008621	0.027439	0.034091	0.02632	1280.33	34	chr6	108510260	.	A	G	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=743;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.351;SOR=0.891	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	18	0	1	0
chr6	108663815	108663815	A	G	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.A982G:p.M328V,FOXO3:NM_201559:exon3:c.A982G:p.M328V	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0342095061799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.474e-06	6.156e-06	2.723e-06	8.252e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	2.52e-05	0	0	1.799e-06	0	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.51853	T	0.041	0.58613	D	0.004	0.12183	B	0.004	0.10090	B	0.000519	0.43753	D	0.202165	0.990216	0.24200	N	1.67	0.42885	L	-2.63	0.90083	D	-1.6	0.39314	N	0.169	0.18376	-0.6776	0.61483	T	0.351	0.71462	T	10	0.07462874	0.11432	T	0.03421	0.55518	D	0.164	0.42212	0.315	0.29096	0.538005241053	0.53452	0.2045417119538611	0.20371	.	.	0.453066557646	0.32363	T	0.515059	0.82932	D	-0.07682	0.40229	T	-0.348123	0.39421	T	0.0695363045205674	0.08585	T	0.79722	0.49813	T	0.0839851	0.19417	0.109157376	0.26304	0.0839851	0.19417	0.109157376	0.26303	-4.125	0.48999	T	.	.	0.070	0.04975	B	.;.;.	.;.;.	1.847595	0.23471	16.03	0.89097312299978959	0.18508	0.24848	0.22520	N	AEFDGBI	0.191575	0.31876	N	-0.836977751325793	0.12373	0.6027009	-0.772136352431903	0.15179	0.7970285	0.986583714739476	0.31089	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	0.672	0.17103	-0.215000	0.09284	0.627000	0.20189	-0.145000	0.12313	0.068000	0.22015	0.998000	0.33993	0.792000	0.37394	0.2508:0.4257:0.0:0.3236	4.343	0.10558	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2016.33	168	chr6	108663815	.	A	G	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.999;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.41;MQRankSum=-2.68;QD=12;ReadPosRankSum=-1.864;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr6	108663854	108663854	G	A	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.G1021A:p.A341T,FOXO3:NM_201559:exon3:c.G1021A:p.A341T	.	426	1053	43	0	0	43	0.0200093	.	.	.	710103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0032	0.00259585	0.0049	0.0012	0.0098	0	0.0003	0.0055	0.0132	0.0054	0.0043855	678	154602	rs145259784	0.0033	0.0033	0.0031	0.0035	0.0293	0.0032	0.0032	0.0257	0.0243	0.0012	0.0066	0.0474	0	0.0004	0.0293	0.0019	0.0070	0.0056	0.0038	0.0038	0.0036	0.0040	0.0086	0.0035	0.0034	0.0074	0.0070	0.0010	0	0.0086	0.0475	0.0002	9.413e-05	0.0272	0.0026	0.0137	0.0044	0.038	0.42783	D	0.293	0.20811	T	0.204	0.29802	B	0.055	0.25995	B	0.004197	0.34013	N	0.343008	1	0.08975	N	0.99	0.25021	L	-2.64	0.90147	D	-0.48	0.15379	N	0.36	0.40665	-0.6141	0.64234	T	0.381	0.73744	T	10	0.007044345	0.00160	T	.	.	.	0.131	0.35738	.	.	0.855702866044	0.85431	0.2028257584335261	0.20199	.	.	0.449852347374	0.31923	T	0.418943	0.77113	T	-0.347946	0.04857	T	-0.268572	0.47965	T	0.00784643585367514	0.00092	T	0.810019	0.46084	T	0.02431428	0.01252	0.060943298	0.11689	0.02431428	0.01251	0.060943298	0.11688	-4.51	0.31019	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.216561	0.28284	17.75	0.97082658405871858	0.32289	0.55788	0.29952	D	AEFDGBI	0.134308	0.25428	N	-0.470631801392504	0.23047	1.234884	-0.424609406794093	0.24278	1.328551	0.984320181979407	0.30699	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	2.120000	0.41591	4.937000	0.46179	0.676000	0.76740	0.765000	0.29300	1.000000	0.68203	0.027000	0.12703	0.0:0.1233:0.6517:0.225	11.799	0.51388	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030242	0.040404	0.039402	0.026316	0.000000	0.025862	0.027607	0.018939	0.02632	1696.33	45	chr6	108663854	.	G	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=784;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-0.726;QD=11.86;ReadPosRankSum=-0.82;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr6	108953151	108953151	C	T	exonic	ARMC2	.	nonsynonymous SNV	ARMC2:NM_001286609:exon12:c.C1220T:p.T407M,ARMC2:NM_032131:exon13:c.C1715T:p.T572M	.	430	1091	1	0	0	1	0.000458085	.	.	.	3290185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00900435170622	7.7e-05	.	1.659e-05	0	0	0	0	3.016e-05	0	0	1.94e-05	3	154602	rs371652575	6.226e-05	6.225e-05	6.126e-05	6.326e-05	0.0005	5.162e-05	4.781e-05	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	7.735e-05	1.656e-05	0	2.627e-05	2.626e-05	2.568e-05	2.689e-05	5.878e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.008	0.58626	D	0.016	0.60972	D	0.95	0.53885	P	0.636	0.51948	P	0.157016	0.17782	N	0.633514	1	0.08975	N	2.39	0.68882	M	1.42	0.33189	T	-1.35	0.33598	N	0.244	0.27554	-1.0403	0.17223	T	0.044	0.18906	T	10	0.14612544	0.27708	T	0.009004	0.23702	T	0.109	0.30843	.	.	0.478905595755	0.47518	0.17456035215068993	0.17375	0.192524880613	0.21581	0.282676875591	0.07868	T	0.069724	0.33781	T	-0.28172	0.10487	T	-0.53479	0.18812	T	0.169615626335144	0.18554	T	0.670133	0.28956	T	0.016980413	0.00236	0.03419769	0.02445	0.016980413	0.00236	0.03419769	0.02445	-6.76	0.58171	T	.	.	0.091	0.13268	B	.;.	.;.	2.184612	0.27852	17.60	0.9967139657743832	0.78587	0.06338	0.12336	N	AEFDBI	0.063979	0.12397	N	-0.26209867198314	0.30622	1.709257	-0.450024965045827	0.23548	1.284742	0.851187823047762	0.25047	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.81	2.3	0.27735	0.006000	0.13051	0.426000	0.18273	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2591:0.4309:0.1255:0.1845	1.621	0.02549	689	0.59000	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2261.33	33	chr6	108953151	.	C	T	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=803;ExcessHet=0;FS=1.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.761;SOR=0.533	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr6	109379644	109379644	T	C	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon2:c.A194G:p.N65S,CD164:NM_001142402:exon2:c.A194G:p.N65S,CD164:NM_001142403:exon2:c.A194G:p.N65S,CD164:NM_001142404:exon2:c.A194G:p.N65S,CD164:NM_001346500:exon2:c.A92G:p.N31S,CD164:NM_006016:exon2:c.A194G:p.N65S	.	437	1082	3	0	0	3	0.0013844	.	.	.	443845	CD164-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	0.00956801323734	0.0009	0.000599042	0.0010	0	0.0003	0	0.0042	0.0011	0.0077	0.0008	0.0008991	139	154602	rs145357332	0.0009	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0007	8.964e-05	0.0006	0	0	0.0042	0.0007	0.0008	0.0006	0.0008	0.0008	0.0008	0.0007	0.0010	0.0010	0.0007	0.0007	0.0008	0.0007	9.62e-05	0	0.0003	0	0	0.0040	0	0.0010	0.0019	0.0010	0.328	0.33418	T	0.525	0.40426	T	0.042	0.44688	B	0.015	0.39840	B	0.790252	0.06707	N	1.110990	1	0.08975	N	1.69	0.43327	L	0.62	0.53302	T	-1.5	0.63323	N	0.23	0.25867	-1.0590	0.12007	T	0.038	0.16462	T	10	0.014536887	0.00306	T	0.009568	0.25039	T	0.096	0.27654	.	.	0.442567846599	0.43878	0.15859677620634055	0.15780	0.273319521446	0.29833	0.302754878998	0.10813	T	0.028504	0.20633	T	-0.525109	0.00411	T	-0.567593	0.15671	T	0.0223659163062489	0.00950	T	0.759324	0.38541	T	0.068990335	0.15076	0.04915929	0.07453	0.043061264	0.06642	0.045344025	0.06080	-2.474	0.05607	T	.	.	0.083	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	2.059561	0.26183	17.03	0.97200080320011728	0.32806	0.09867	0.15524	N	AEFDBCI	0.093120	0.18845	N	-0.680040399550166	0.16591	0.8466785	-0.760642078673624	0.15461	0.8132705	0.999954639314584	0.48110	0.722319	0.85440	0	0.672317	0.65289	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	3.8	1.15	0.19876	0.380000	0.20331	-0.723000	0.07696	0.609000	0.47794	0.244000	0.24789	0.000000	0.08366	0.840000	0.39645	0.0:0.1213:0.2955:0.5832	4.128	0.09603	551	0.72115	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1338.33	34	chr6	109379644	.	T	C	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=748;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.876;SOR=0.504	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1218	18	0	1	0
chr6	109382218	109382218	G	A	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon1:c.C161T:p.T54I,CD164:NM_001142402:exon1:c.C161T:p.T54I,CD164:NM_001142403:exon1:c.C161T:p.T54I,CD164:NM_001142404:exon1:c.C161T:p.T54I,CD164:NM_006016:exon1:c.C161T:p.T54I	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0971965900825	.	.	3.148e-05	0	0	0	0	6.034e-05	0	0	1.29e-05	2	154602	rs760927519	3.241e-05	3.967e-05	3.492e-05	2.984e-05	4.015e-05	2.484e-05	2.222e-05	3.043e-05	2.71e-05	0	0	0	0	0	0	4.015e-05	3.388e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.007	0.74150	D	0.999	0.90584	D	0.967	0.78936	D	0.238328	0.15767	N	0.532999	0.999995	0.21670	N	2.24	0.63355	M	0.17	0.60485	T	-2.33	0.68532	N	0.457	0.56231	-0.9007	0.47920	T	0.197	0.55144	T	10	0.68143773	0.71303	D	0.097197	0.76733	D	0.377	0.69527	0.599	0.72984	0.824396746116	0.82273	0.405413277970837	0.40457	0.311578203488	0.33463	0.332114398479	0.15254	T	0.105929	0.41682	T	-0.0154247	0.49502	T	-0.259933	0.48830	T	0.877347648143768	0.52724	D	0.738626	0.35812	T	0.17392807	0.38168	0.30537236	0.56564	0.17392807	0.38167	0.30537236	0.56563	-7.342	0.59671	T	.	.	0.158	0.44643	B	.;.;.;.;.	.;.;.;.;.	4.204870	0.63475	24.6	0.99660364492458386	0.77883	0.86003	0.45206	D	ALL	0.201995	0.32862	N	0.279290737227361	0.55098	3.674334	0.175167365428934	0.48492	3.064257	0.999999999999898	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.04	4.04	0.46262	3.612000	0.53888	7.223000	0.57852	0.588000	0.31329	0.940000	0.32642	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	11.894	0.51924	563	0.71062	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	731.33	36	chr6	109382218	.	G	A	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=761;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.225;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1008	18	0	1	0
chr6	109453952	109453952	C	T	exonic	MICAL1	.	nonsynonymous SNV	MICAL1:NM_001159291:exon2:c.G245A:p.C82Y,MICAL1:NM_001286613:exon2:c.G302A:p.C101Y,MICAL1:NM_022765:exon2:c.G245A:p.C82Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	1542243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.605	0.0395101684886	.	.	0.0003	0	0	0	0	3.01e-05	0	0.0024	0.0002717	42	154602	rs767733510	0.0002	0.0002	9.532e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0002	1.529e-05	0.0003	0.0030	0.0001	0.0001	7.706e-05	0.0001	0.0029	6.504e-05	5.317e-05	0.0018	0.0014	0	0	0	0	0	0	0	2.94e-05	0	0.0029	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	3.15	0.07820	T	-9.22	0.99097	D	0.921	0.92433	-1.1634	0.00677	T	0.058	0.24167	T	10	0.33727923	0.50853	T	0.03951	0.58848	D	0.605	0.84452	0.75	0.88071	0.622669435781	0.61960	0.7981640622105931	0.79769	0.590832157368	0.54534	0.744088053703	0.73573	T	0.349552	0.71738	T	-0.0758143	0.40392	T	0.113084	0.77778	D	0.479859954088376	0.31892	T	0.925307	0.72522	D	0.95704246	0.96981	0.8699376	0.92861	0.96461296	0.97740	0.88328964	0.93793	-8.471	0.70560	D	.	.	0.837	0.84929	P	.;.;.;.	.;.;.;.	4.259803	0.64723	24.7	0.99723028488642163	0.82195	0.98379	0.82178	D	AEFDGBCI	0.968973	0.99141	D	0.845920323081682	0.88873	9.745703	0.796355658874609	0.89539	10.01659	0.999999999999979	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.21	5.21	0.72005	7.661000	0.82776	5.914000	0.51064	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1322.33	35	chr6	109453952	.	C	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.132;SOR=0.753	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	18	0	1	0
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q,ZBTB24:NM_014797:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	1	1498	23	0	0	23	0.00761842	.	.	.	246995	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_specified|not_provided|Kabuki_syndrome_1	MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.012588	0.010101	0.008152	0.017544	0.000000	0.025862	0.021341	0.003788	0.02632	1690.33	35	chr6	109481881	.	C	T	1690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=728;ExcessHet=0;FS=2.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.951;SOR=0.444	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	18	0	1	0
chr6	109632911	109632911	T	A	exonic	AK9	.	stoploss	AK9:NM_001329602:exon12:c.A1266T:p.X422Y,AK9:NM_145025:exon12:c.A1266T:p.X422Y,AK9:NM_001329603:exon13:c.A1482T:p.X494Y	.	.	.	.	.	.	.	.	.	.	.	918991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0.0001	0	0.0002	0	0.0002	0.0002458	38	154602	rs79604737	0.0001	0.0003	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0.0004	0	0.0001	1.941e-05	0.0004	0.0001	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0002	0	0	0	0	0.0002	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.69481	0.00039	T	-0.878339	0.00668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295102	0.02639	0.333	0.32091818698493435	0.01842	0.00422	0.02082	N	AEFBI	.	.	.	-1.4940321139305	0.01892	0.08300699	-1.72922830197375	0.01014	0.04546294	0.00131195978758189	0.08437	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0481801	0.07606	1.52	-3.03	0.05100	-1.682000	0.02037	-1.493000	0.05315	-1.827000	0.00594	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1901:0.3131:0.0:0.4968	4.064	0.09333	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.035247	0.050505	0.043478	0.017544	0.100000	0.051724	0.021341	0.034091	0.02632	1445.33	74	chr6	109632911	.	T	A	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1147;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.53;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1132:.	18	0	1	0
chr6	109979173	109979175	GCG	-	exonic	GPR6	.	nonframeshift deletion	GPR6:NM_005284:exon2:c.61_63del:p.A25del,GPR6:NM_001286099:exon3:c.106_108del:p.A40del	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.805e-05	0	0	0	0	3.51e-05	0	0.0001	2.59e-05	4	154602	rs760613921	3.186e-05	8.824e-05	3.724e-05	2.644e-05	0.0007	2.443e-05	2.185e-05	0.0002	0.0001	3.061e-05	0.0002	0	7.577e-05	0	0.0007	1.984e-05	0.0001	2.345e-05	2.632e-05	2.628e-05	2.573e-05	2.694e-05	6.55e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	33	chr6	109979172	.	AGCG	A	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=713;ExcessHet=0;FS=6.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=-0.376;SOR=0.43	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1304	18	0	1	0
chr6	110101728	110101728	G	A	exonic	WASF1	.	nonsynonymous SNV	WASF1:NM_001024936:exon8:c.C1382T:p.T461I,WASF1:NM_001024934:exon9:c.C1382T:p.T461I,WASF1:NM_001024935:exon9:c.C1382T:p.T461I,WASF1:NM_003931:exon10:c.C1382T:p.T461I	.	423	1093	6	0	0	6	0.00273723	.	.	.	2820626	not_provided|Neurodevelopmental_disorder_with_absent_language_and_variable_seizures|WASF1-related_disorder	MedGen:C3661900|MONDO:MONDO:0032876,MedGen:C5231469,OMIM:618707|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00129580696571	0.0011	0.000798722	0.0011	0	0.0010	0	0	0.0013	0.0011	0.0020	0.0011061	171	154602	rs142151316	0.0014	0.0014	0.0014	0.0014	0.0095	0.0013	0.0013	0.0075	0.0068	0.0003	0.0013	0.0002	0	3.744e-05	0.0095	0.0015	0.0011	0.0020	0.0011	0.0010	0.0011	0.0010	0.0027	0.0009	0.0009	0.0016	0.0014	0.0003	0	0.0022	0.0003	0	0	0.0136	0.0014	0	0.0027	0.346	0.12469	T	0.432	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.403076	0.13098	N	0.754903	0.872816	0.28179	N	-0.345	0.03330	N	0.87	0.46412	T	-0.24	0.10833	N	0.088	0.10198	-1.0602	0.11706	T	0.029	0.12278	T	10	0.00537017	0.00118	T	0.001296	0.01784	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.1895082179061291	0.18868	0.602311428291	0.55246	0.559659183025	0.47219	T	0.054702	0.29799	T	-0.58925	0.00169	T	-0.61824	0.11323	T	0.0173724462642495	0.00475	T	0.660634	0.26999	T	0.030900199	0.02834	0.060056202	0.11374	0.03827701	0.05070	0.053160295	0.08900	-4.185	0.26534	T	.	.	0.085	0.10062	B	.;.;.;.;.	.;.;.;.;.	2.902055	0.38468	20.7	0.98986952026603792	0.49861	0.81325	0.40752	D	AEFDGBCI	0.265734	0.38280	N	-0.100797120824148	0.37357	2.172314	0.146155745931788	0.46938	2.931797	0.999317816202909	0.39113	0.706548	0.73137	0	0.659037	0.61890	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	1.759000	0.38049	7.532000	0.59933	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.1516:0.0:0.8484:0.0	10.248	0.42532	567	0.70732	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1941.33	130	chr6	110101728	.	G	A	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.273;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.45;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	18	0	1	0
chr6	110438794	110438794	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon5:c.G1237A:p.G413R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.394114823971	.	0.000199681	3.297e-05	0	8.646e-05	0	0	4.499e-05	0	0	3.23e-05	5	154602	rs149722400	1.984e-05	1.984e-05	1.497e-05	2.475e-05	0.0002	1.392e-05	1.203e-05	2.995e-05	2.038e-05	2.987e-05	0	0	2.519e-05	0	0.0002	1.709e-05	1.656e-05	6.957e-05	5.254e-05	5.25e-05	5.14e-05	5.372e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.124e-05	4.813e-05	0	0	0	0	0	0.0034	5.88e-05	0	0.0002	0.01	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.435	0.92070	M	-2.53	0.89430	D	-6.45	0.94729	D	0.765	0.76666	1.031	0.97744	D	0.883	0.96122	D	10	0.9584457	0.95227	D	0.394115	0.93254	D	0.767	0.92129	0.934	0.99018	0.444807159249	0.44105	0.9064590640990151	0.90618	0.120914663314	0.13617	0.320912450552	0.13560	T	0.299808	0.67232	T	0.264545	0.79947	D	0.311353	0.88717	D	0.95579993724823	0.64596	D	0.90391	0.66280	D	0.625159	0.74039	0.49901792	0.71034	0.625159	0.74040	0.49901792	0.71034	-7.22	0.55625	T	.	.	0.890	0.83541	P	.;.;.;.	.;.;.;.	4.292165	0.65461	24.8	0.99865353644856658	0.94366	0.95151	0.63625	D	AEFBI	0.793755	0.72166	D	0.667392915492929	0.77499	6.68636	0.478744021256911	0.66585	4.971099	0.999958979950705	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	5.170000	0.64828	4.442000	0.43389	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	18.247	0.89927	479	0.77495	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	35	chr6	110438794	.	C	T	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=702;ExcessHet=0;FS=2.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.047;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr6	110456761	110456761	T	C	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.A310G:p.N104D	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.00738818	0.0038	0	8.639e-05	0	0	0	0.0022	0.0280	0.0033958	525	154602	rs200263837	0.0016	0.0016	0.0009	0.0023	0.0257	0.0016	0.0015	0.0249	0.0245	5.974e-05	2.236e-05	0	5.038e-05	0	0.0012	1.439e-05	0.0017	0.0257	0.0009	0.0009	0.0004	0.0013	0.0273	0.0008	0.0007	0.0235	0.0221	0	0	6.538e-05	0	0	0	0	0	0	0.0273	0.212	0.20381	T	0.207	0.27056	T	0.005	0.14655	B	0.004	0.13708	B	0.006163	0.01113	N	5.254820	1	0.08975	N	0	0.06538	N	-0.04	0.63240	T	-0.58	0.22294	N	0.121	0.21449	-1.0687	0.09701	T	0.048	0.20395	T	10	0.0029841661	0.00049	T	.	.	.	0.038	0.09825	0.36	0.36385	0.213573922156	0.20996	0.5289545914735869	0.52819	0.0154150590524	0.01471	0.303937673569	0.10991	T	0.02424	0.18353	T	-0.632934	0.00092	T	-0.662346	0.08108	T	0.0184367964067303	0.00560	T	0.565243	0.19970	T	0.07001998	0.15388	0.047940005	0.07016	0.07001998	0.15388	0.047940005	0.07016	-3.575	0.17496	T	.	.	0.155	0.34405	B	.;.;.;.;.	.;.;.;.;.	0.203021	0.05874	2.316	0.93440783683806394	0.23218	0.04077	0.09534	N	AEFGBI	0.053991	0.09777	N	-1.0676759614658	0.07245	0.3359881	-1.07346999071854	0.08225	0.4034778	0.0209939263290338	0.13310	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.59	0.763	0.17606	0.878000	0.27770	0.813000	0.21772	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.542:0.2674:0.0:0.1906	5.776	0.17547	493	0.76500	Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.05263	9984.81	151	chr6	110456761	.	T	C	9984.81	.	AC=2;AF=0.053;AN=38;DP=1847;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.35;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	1	0	0
chr6	111266001	111266001	A	G	exonic	MFSD4B	.	nonsynonymous SNV	MFSD4B:NM_153369:exon4:c.A439G:p.T147A	.	434	1080	7	1	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0052	0.00239617	0.0056	0.0011	0.0017	0	0.0103	0.0079	0.0055	0.0032	0.0057567	890	154602	rs72939596	0.0080	0.0080	0.0084	0.0076	0.0092	0.0079	0.0078	0.0091	0.0090	0.0012	0.0016	0.0011	0	0.0111	0.0071	0.0092	0.0053	0.0037	0.0049	0.0049	0.0050	0.0048	0.0080	0.0046	0.0045	0.0075	0.0073	0.0013	0	0.0021	0.0009	0.0002	0.0089	0	0.0080	0.0033	0.0023	0.156	0.24090	T	0.289	0.21078	T	0.623	0.39993	P	0.372	0.43610	B	0.323353	0.14233	N	0.736785	1	0.08975	N	.	.	.	0.5	0.55608	T	-1.63	0.39119	N	0.04	0.01347	-0.9702	0.37157	T	0.050	0.21300	T	10	0.003963828	0.00076	T	.	.	.	0.071	0.20720	.	.	0.126345400529	0.12197	0.17345402855501113	0.17265	0.0758321962947	0.08508	0.298696726561	0.10207	T	0.072638	0.34504	T	-0.572902	0.00213	T	-0.587749	0.13862	T	0.0188590476834132	0.00597	T	0.463654	0.13513	T	0.04186175	0.06245	0.048357382	0.07165	0.04186175	0.06244	0.048357382	0.07165	-3.567	0.17381	T	.	.	.	.	.	.	.	-0.379771	0.02290	0.240	0.78484663461483573	0.12321	0.28096	0.23460	N	ALL	0.067918	0.13374	N	-0.963787507365658	0.09385	0.4439758	-1.10851578640764	0.07537	0.3669792	0.999999999988818	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.85	-3.51	0.04397	0.427000	0.21098	-1.804000	0.04695	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.329:0.0:0.3459:0.325	5.336	0.15265	632	0.64850	Major facilitator superfamily domain	.	.	.	.	rs72939596	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.002924	0.100000	0.008621	0.003049	0.007576	0.02632	1876.33	67	chr6	111266001	.	A	G	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1065;ExcessHet=0;FS=5.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=2.71;SOR=1.031	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr6	111344045	111344045	-	A	splicing	REV3L	NM_002912:exon22:c.7420-2->T;NM_001286432:exon23:c.7186-2->T;NM_001286431:exon24:c.7186-2->T;NM_001372078:exon21:c.7420-2->T	.	.	.	433	1062	25	2	0	29	0.0134696	.	.	.	777644	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00559105	0.0073	0.0007	0.0035	0.0030	0.0004	0.0029	0.0066	0.035	0.0008068	21	26028	rs565415842	0.0022	0.0052	0.0016	0.0029	0.0238	0.0021	0.0021	0.0229	0.0225	0.0004	0.0017	0.0039	0.0002	0.0003	0.0080	0.0008	0.0026	0.0238	0.0013	0.0013	0.0009	0.0016	0.0193	0.0011	0.0011	0.0161	0.0149	0.0002	0	0.0017	0.0026	0	0	0.0068	0.0007	0.0014	0.0193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	500.29	38	chr6	111344045	.	T	TA	500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.05263	3835.83	53	chr6	111580262	.	G	T	3835.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.024;DP=1617;ExcessHet=0.119;FS=4.867;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.932;SOR=1.01	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1348	17	0	2	0
chr6	111719865	111719865	C	T	exonic	FYN	.	nonsynonymous SNV	FYN:NM_001370529:exon2:c.G187A:p.V63I,FYN:NM_153048:exon2:c.G187A:p.V63I,FYN:NM_002037:exon4:c.G187A:p.V63I,FYN:NM_153047:exon4:c.G187A:p.V63I	.	424	1093	5	0	0	5	0.00228206	.	.	.	2199916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0295029610937	0.0002	0.000199681	0.0003	0.0002	0.0002	0	0	0.0004	0	0.0005	0.0003234	50	154602	rs62620251	0.0003	0.0003	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0004	0.0007	0.0014	0	0	0.0057	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.223e-05	0	0.0010	0.0003	0.0002	0	0.0034	0.0003	0	0.0006	0.455	0.91255	T	0.199	0.92824	T	0.004	0.12183	B	0.002	0.11217	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.61	0.41143	L	2.33	0.73523	T	-0.25	0.21644	N	0.628	0.64223	-0.8996	0.48034	T	0.128	0.43625	T	10	0.05668962	0.06393	T	0.029503	0.52003	D	0.246	0.55340	.	.	0.926839519959	0.92608	0.09318568452493498	0.09250	1.62513862552	0.89136	0.74085521698	0.73099	T	0.413346	0.76724	T	-0.174014	0.24628	T	-0.11665	0.62076	T	0.737988531589508	0.42629	D	0.834017	0.91282	T	0.0746189	0.16757	0.063847795	0.12709	0.0746189	0.16757	0.063847795	0.12709	-4.935	0.37239	T	.	.	0.092	0.36053	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.544769	0.49806	22.8	0.91411281606590156	0.20678	0.97716	0.76619	D	AEFBI	0.848633	0.76545	D	-0.400604806282695	0.25447	1.381	-0.213903704370897	0.31035	1.752756	0.999999999799782	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	4.82	0.61641	7.568000	0.81546	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.9303:0.0:0.0697	14.625	0.68214	173	0.93306	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.008152	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	4809.81	34	chr6	111719865	.	C	T	4809.81	.	AC=2;AF=0.053;AN=38;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.69;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	18	1	0	0
chr6	112075998	112075998	G	A	exonic	TUBE1	.	nonsynonymous SNV	TUBE1:NM_016262:exon8:c.C751T:p.H251Y	.	438	1064	18	2	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0031	0.00239617	0.0051	0.0005	0.0031	0	0.0145	0.0063	0.0077	0.0035	0.0047283	731	154602	rs141127175	0.0050	0.0050	0.0049	0.0051	0.0068	0.0049	0.0048	0.0051	0.0045	0.0007	0.0040	0.0118	0	0.0151	0.0068	0.0047	0.0058	0.0042	0.0049	0.0049	0.0044	0.0054	0.0080	0.0046	0.0045	0.0068	0.0064	0.0008	0	0.0080	0.0150	0	0.0162	0	0.0047	0.0080	0.0056	0.032	0.44694	D	0.033	0.53072	D	0.031	0.20130	B	0.024	0.20255	B	0.293673	0.14722	N	0.710167	1	0.08975	N	0.205	0.09354	N	-0.27	0.67367	T	-0.97	0.25770	N	0.213	0.23758	-0.9554	0.40024	T	0.094	0.35551	T	10	0.0066625774	0.00151	T	.	.	.	0.119	0.33137	.	.	0.700147750719	0.69755	0.389442045331326	0.38859	0.0542347905455	0.05990	0.301987946033	0.10698	T	0.111445	0.42694	T	-0.519931	0.00440	T	-0.517979	0.20500	T	0.0233332931321639	0.01063	T	0.320168	0.06459	T	0.035655264	0.04239	0.0432794	0.05349	0.035655264	0.04239	0.0432794	0.05349	-4.534	0.31330	T	.	.	0.072	0.04277	B	.	.	1.915503	0.24327	16.36	0.92543979648825547	0.21992	0.88425	0.48347	D	AEFBI	0.669087	0.63664	D	-0.568952321685599	0.19892	1.044698	-0.475234667800596	0.22838	1.242473	0.810158559956206	0.24340	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.81	3.97	0.45241	4.217000	0.58344	6.190000	0.54754	-0.721000	0.03806	1.000000	0.71638	0.999000	0.35428	0.002000	0.04165	0.0717:0.135:0.7932:0.0	10.213	0.42330	689	0.59000	Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.002924	0.000000	0.017241	0.012195	0.011364	0.02632	884.33	33	chr6	112075998	.	G	A	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.966;DP=692;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.328;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	18	0	1	0
chr6	112155660	112155660	C	T	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon15:c.G1864A:p.D622N,LAMA4:NM_001105207:exon15:c.G1843A:p.D615N,LAMA4:NM_002290:exon15:c.G1843A:p.D615N	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00276626894006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.126e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.09866	T	0.722	0.05309	T	.	.	.	.	.	.	0.000166	0.48594	D	0.243129	0.679921	0.30288	N	.	.	.	2.64	0.12884	T	-2.46	0.53736	N	0.169	0.28264	-0.9518	0.40660	T	0.009	0.03359	T	10	0.12400848	0.23549	T	0.002766	0.05723	T	0.053	0.14996	0.379	0.39482	0.281381271821	0.27740	0.21207141063563983	0.21123	0.117325289946	0.13220	0.584312260151	0.50693	T	0.030531	0.21771	T	-0.352323	0.04582	T	-0.64701	0.09164	T	0.370287925004959	0.27808	T	0.815518	0.47040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.23605	B	.;.;.;.	.;.;.;.	2.578267	0.33423	19.34	0.97673678972802747	0.35270	0.52528	0.29153	D	AEFGBCI	0.306334	0.41351	N	-0.173899033721635	0.34225	1.950878	0.0584392901630624	0.42481	2.570238	0.999999819587559	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.42	5.42	0.78666	2.999000	0.49161	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9112:0.0:0.0888	10.034	0.41291	762	0.50290	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1510.33	37	chr6	112155660	.	C	T	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.48;DP=763;ExcessHet=0;FS=5.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.463;SOR=1.099	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	18	0	1	0
chr6	116100935	116100935	C	T	exonic	NT5DC1	.	nonsynonymous SNV	NT5DC1:NM_152729:exon1:c.C5T:p.A2V	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0011	0.00279553	0.0027	0	0.0015	0.0001	0.0002	0.0016	0.0041	0.0110	0.0020763	321	154602	rs148112050	0.0016	0.0016	0.0013	0.0018	0.0099	0.0015	0.0015	0.0094	0.0091	6.391e-05	0.0010	0.0039	2.615e-05	0	0.0065	0.0010	0.0022	0.0099	0.0011	0.0011	0.0010	0.0013	0.0112	0.0010	0.0009	0.0088	0.0079	9.62e-05	0	0.0014	0.0020	0.0002	0	0	0.0012	0.0028	0.0112	0.053	0.46910	T	0.042	0.57104	D	0.669	0.41149	P	0.355	0.42984	B	0.249733	0.15536	N	0.650460	0.776799	0.29377	N	1.845	0.48678	L	1.93	0.22881	T	-0.73	0.25551	N	0.271	0.30687	-1.1009	0.03984	T	0.031	0.13504	T	10	0.007064432	0.00161	T	.	.	.	0.047	0.12962	.	.	0.318828661733	0.31499	0.5133724043286988	0.51259	0.357632686699	0.37474	0.670213341713	0.62868	T	0.033	0.22643	T	-0.474123	0.00802	T	-0.445859	0.28155	T	0.0273838570528199	0.01599	T	0.709329	0.31993	T	0.058258742	0.11700	0.14163214	0.33721	0.058258742	0.11699	0.14163214	0.33720	-5.864	0.45127	T	.	.	0.295	0.52622	B	.;.	.;.	3.308052	0.45438	22.1	0.99659717316690144	0.77883	0.50037	0.28570	D	ALL	0.197991	0.32488	N	-0.107861594902292	0.37048	2.150028	-0.116142015714426	0.34739	2.001673	0.999999999999475	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.94	3.07	0.34476	1.049000	0.30001	2.943000	0.35675	0.456000	0.21511	0.248000	0.24829	1.000000	0.68203	0.876000	0.41813	0.0:0.9031:0.0:0.0969	10.879	0.46133	785	0.46916	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006054	0.005155	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.05263	2263.81	35	chr6	116100935	.	C	T	2263.81	.	AC=2;AF=0.053;AN=38;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=0.898	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,977	18	1	0	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006471	0.000000	0.013699	0.006250	0.000000	0.000000	0.010417	0.004808	0.02632	2181.33	121	chr6	116253540	.	G	T	2181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=1620;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.18;SOR=0.543	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr6	116433436	116433436	G	A	exonic	DSE	.	nonsynonymous SNV	DSE:NM_001080976:exon5:c.G1004A:p.R335H,DSE:NM_001322939:exon5:c.G1061A:p.R354H,DSE:NM_001322941:exon5:c.G443A:p.R148H,DSE:NM_013352:exon5:c.G1004A:p.R335H,DSE:NM_001322937:exon6:c.G1004A:p.R335H,DSE:NM_001322938:exon6:c.G1004A:p.R335H,DSE:NM_001322940:exon6:c.G443A:p.R148H,DSE:NM_001374520:exon6:c.G5A:p.R2H	.	426	1094	2	0	0	2	0.000913242	.	.	.	368680	Ehlers-Danlos_syndrome,_musculocontractural_type_2|not_provided	MONDO:MONDO:0014236,MedGen:C3809845,OMIM:615539,Orphanet:2953|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0250169210345	7.8e-05	.	9.493e-05	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs371480627	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	3.16e-05	0.0005	0	0.0005	0.0020	0	7.228e-05	0.0003	2.524e-05	0.0001	0.0001	0.0001	0.0001	0.0001	9.152e-05	7.707e-05	2.262e-05	1.124e-05	4.826e-05	0	0.0001	0	0	0.0012	0	5.88e-05	0	0	0.007	0.59928	D	0.006	0.70582	D	0.998	0.73220	D	0.882	0.62632	P	0.000000	0.84330	D	0.050989	1	0.81001	D	2.255	0.64187	M	1.96	0.22270	T	-2.5	0.54382	D	0.438	0.47672	-1.1168	0.02545	T	0.093	0.35417	T	10	0.13954371	0.26531	T	0.025017	0.48002	D	0.203	0.48915	.	.	0.640367608718	0.63740	0.8588925201882677	0.85852	0.958394088486	0.72909	0.716882109642	0.69593	T	0.520194	0.83206	D	-0.208357	0.19612	T	-0.175156	0.56970	T	0.107315687374201	0.13142	T	0.90181	0.65830	D	0.32153904	0.54770	0.19317672	0.42873	0.32153904	0.54770	0.19317672	0.42872	-8.246	0.62734	D	0.7113737887207967	0.79164	0.134	0.29311	B	.;.;.	.;.;.	5.427018	0.90767	31	0.99937808080715218	0.99698	0.96626	0.70088	D	AEFDBI	0.684926	0.64710	D	0.718130831784899	0.80820	7.380004	0.731561244568897	0.84775	8.386955	0.999999987755721	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.76	5.76	0.90726	3.574000	0.53608	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	20.332	0.98722	534	0.73357	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	527.33	40	chr6	116433436	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.372;DP=725;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.852;SOR=0.89	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	18	0	1	0
chr6	116462102	116462102	T	G	exonic	CALHM6	.	nonsynonymous SNV	CALHM6:NM_001010919:exon2:c.T173G:p.V58G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.032175217686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.182	0.29249	T	0.999	0.77913	D	0.967	0.71530	D	0.000038	0.55875	D	0.071749	0.999999	0.81001	D	.	.	.	2.12	0.19726	T	-3.79	0.71639	D	0.25	0.28264	-1.1178	0.02476	T	0.052	0.22037	T	10	0.33424625	0.50601	T	0.032175	0.54073	D	0.110	0.31079	0.464	0.53404	0.618772897693	0.61568	0.6303147895980106	0.62965	0.539597992946	0.51187	0.482273280621	0.36370	T	0.028597	0.20678	T	-0.126119	0.32125	T	-0.418938	0.31197	T	0.981705665588379	0.74064	D	0.50095	0.15685	T	0.88840425	0.90370	0.61106914	0.77375	0.88840425	0.90372	0.61106914	0.77375	-5.12	0.38117	T	.	.	0.320	0.54514	B	.	.	3.907275	0.56954	23.8	0.99591514063303155	0.73631	0.35428	0.25299	N	ALL	0.161544	0.28762	N	0.0560633200740674	0.44423	2.716555	-0.0642094054566443	0.36883	2.152118	0.999999999999887	0.74766	0.443343	0.08805	1	0.374146	0.05931	1	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.1	2.61	0.30255	0.179000	0.16653	0.157000	0.15360	-0.194000	0.09177	0.037000	0.20830	0.023000	0.20922	0.250000	0.23263	0.1334:0.1562:0.0:0.7104	5.780	0.17564	503	0.75780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1533.81	37	chr6	116462102	.	T	G	1533.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=1.225	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	1	0	0
chr6	116792887	116792887	G	A	exonic	GPRC6A	.	nonsynonymous SNV	GPRC6A:NM_001286355:exon5:c.C1823T:p.T608M,GPRC6A:NM_001286354:exon6:c.C1511T:p.T504M,GPRC6A:NM_148963:exon6:c.C2036T:p.T679M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2820655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.305	0.0135923453162	0.0012	0.000798722	0.0011	9.619e-05	0.0006	0.0002	0.0006	0.0018	0.0011	6.057e-05	0.0011513	178	154602	rs118009892	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0004	0.0010	3.827e-05	7.558e-05	0.0004	0.0002	0.0020	0.0012	0.0002	0.0012	0.0012	0.0013	0.0011	0.0022	0.0011	0.0010	0.0019	0.0018	0.0004	0	0.0005	0	0	0.0006	0	0.0022	0.0005	0	0.248	0.32453	T	0.308	0.19908	T	0.06	0.35138	B	0.021	0.30104	B	0.840866	0.09035	N	0.924252	0.999986	0.18198	N	1.6	0.40776	L	-2.39	0.88377	D	0.0	0.11547	N	0.124	0.14054	-0.6972	0.60572	T	0.312	0.68220	T	10	0.017200917	0.00366	T	0.013592	0.33109	T	0.305	0.62620	.	.	0.635842297619	0.63285	0.3668118840612202	0.36595	0.0440490187585	0.04745	0.263675510883	0.05336	T	0.350495	0.71820	T	-0.4202	0.01705	T	-0.375412	0.36257	T	0.00939151718004375	0.00120	T	0.619338	0.28733	T	0.019976147	0.00541	0.04959133	0.07611	0.019976147	0.00541	0.04959133	0.07610	-4.305	0.33754	T	.	.	0.059	0.02091	B	.;.;.	.;.;.	0.796169	0.11666	8.250	0.83494810791227836	0.14757	0.04258	0.09789	N	AEFBI	0.040085	0.05913	N	-1.08760237399774	0.06871	0.3175302	-1.19245132845794	0.06035	0.2893034	0.104645874122598	0.16481	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.81	-7.89	0.01040	1.064000	0.30189	2.301000	0.32018	-0.292000	0.06281	0.301000	0.25333	0.924000	0.28388	0.866000	0.41154	0.3627:0.0:0.5392:0.0981	10.822	0.45814	501	0.75956	GPCR family 3, C-terminal|GPCR family 3, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2049.33	118	chr6	116792887	.	G	A	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=2331;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.714;SOR=0.596	GT:AD:DP:GQ:PL	0/1:77,79:156:99:2063,0,1845	18	0	1	0
chr6	116806860	116806860	T	C	exonic	GPRC6A	.	nonsynonymous SNV	GPRC6A:NM_001286355:exon3:c.A845G:p.H282R,GPRC6A:NM_148963:exon3:c.A845G:p.H282R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.0522521320593	0.0022	0.000998403	0.0022	0.0004	0.0010	0	0.0098	0.0027	0.0055	6.059e-05	0.0019922	308	154602	rs144964096	0.0017	0.0017	0.0018	0.0017	0.0013	0.0017	0.0017	0.0013	0.0012	0.0002	0.0011	0.0163	2.52e-05	0.0083	0.0002	0.0013	0.0023	6.958e-05	0.0027	0.0027	0.0020	0.0034	0.0035	0.0025	0.0024	0.0028	0.0025	0.0003	0	0.0035	0.0196	0	0.0151	0.0034	0.0016	0.0009	0	0.359	0.12305	T	0.217	0.26145	T	0.942	0.62325	P	0.873	0.61978	P	0.000043	0.53742	D	0.000000	0.995921	0.81001	D	1.67	0.42885	L	-1.56	0.81815	D	-2.21	0.51646	N	0.663	0.67218	-0.2174	0.77221	T	0.423	0.76763	T	10	0.014960676	0.00314	T	0.052252	0.64996	D	0.675	0.88013	.	.	0.781915900491	0.77990	0.8954737721972894	0.89518	0.202593536193	0.22681	0.525685071945	0.42427	T	0.129656	0.45807	T	-0.175073	0.24473	T	-0.0488838	0.67098	D	0.0399996220411855	0.03691	T	0.755524	0.37862	T	0.46506876	0.64986	0.49172154	0.70597	0.46506876	0.64987	0.49172154	0.70598	-7.366	0.58367	T	.	.	0.319	0.54405	B	.;.	.;.	3.229686	0.44041	21.9	0.99197045965591091	0.55171	0.95134	0.63563	D	AEFI	0.540978	0.55732	D	0.255345946972448	0.53902	3.557421	0.253003069818738	0.52819	3.454354	0.0158993212596953	0.12767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.17	4.99	0.65942	1.347000	0.33580	2.599000	0.33511	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.614000	0.31742	0.2559:0.0:0.0:0.7441	10.659	0.44884	496	0.76301	Receptor, ligand binding region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2530.33	34	chr6	116806860	.	T	C	2530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.685;DP=861;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.06;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	18	0	1	0
chr6	116920414	116920414	T	G	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon12:c.T1287G:p.I429M	Mitchell-Riley syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2378928	Inborn_genetic_diseases|RFX6-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00485350290906	.	.	8.242e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs770671840	1.163e-05	1.163e-05	1.226e-05	1.1e-05	0.0017	7.09e-06	5.79e-06	0.0009	0.0007	0	6.71e-05	0	0	0	0.0017	1.799e-06	3.312e-05	0	6.572e-06	6.568e-06	0	1.345e-05	6.557e-05	0	0	.	.	0	0	6.557e-05	0	0	0	0	0	0	0	0.551	0.06564	T	0.551	0.09393	T	0.036	0.20732	B	0.009	0.14300	B	0.002393	0.36650	N	0.270593	1	0.08975	N	0.205	0.09354	N	0.48	0.55945	T	0.4	0.03463	N	0.3	0.33904	-0.9791	0.35208	T	0.015	0.05946	T	10	0.05299753	0.05421	T	0.004854	0.12161	T	0.035	0.08770	0.277	0.23004	0.226586394389	0.22295	0.2517471793409805	0.25088	0.505640415308	0.48796	0.442919433117	0.30976	T	0.111761	0.42750	T	-0.325218	0.06479	T	-0.622064	0.11024	T	0.0236221663585399	0.01098	T	0.407759	0.10493	T	0.05527171	0.10719	0.04520139	0.06028	0.05527171	0.10719	0.04520139	0.06027	-5.563	0.42453	T	0.1302327220169475	0.13680	0.083	0.09336	B	.	.	0.962230	0.13387	9.894	0.59622113856541281	0.06267	0.27896	0.23404	N	AEFI	0.270042	0.38619	N	-0.890075691103105	0.11077	0.5326778	-0.746400081998471	0.15810	0.8333811	1.2160110329486E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.74	0.58	0.16585	-0.458000	0.06813	0.235000	0.16237	0.665000	0.62972	0.263000	0.24978	0.992000	0.31684	0.987000	0.62547	0.1183:0.1932:0.1164:0.5721	2.250	0.03794	381	0.83684	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1544.33	41	chr6	116920414	.	T	G	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.09;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.399;SOR=0.653	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr6	116927515	116927515	A	G	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon17:c.A2374G:p.T792A	Mitchell-Riley syndrome, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00783669002584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210032442	6.158e-06	6.156e-06	4.085e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.137	0.33894	T	0.0	0.02946	B	0.0	0.01387	B	0.558399	0.05410	N	1.211670	0.992986	0.23791	N	0.755	0.19153	N	0.59	0.53943	T	-0.86	0.23372	N	0.049	0.02088	-1.0220	0.23063	T	0.032	0.13898	T	10	0.029738873	0.01100	T	0.007837	0.20798	T	0.046	0.12618	0.214	0.13354	0.0611884634855	0.05136	0.274707762811999	0.27383	0.0536063147559	0.05918	0.302188009024	0.10727	T	0.13867	0.47229	T	-0.298304	0.08821	T	-0.66627	0.07850	T	0.0106487342791685	0.00149	T	0.448455	0.12604	T	0.046236344	0.07704	0.04930894	0.07507	0.046236344	0.07704	0.04930894	0.07507	-2.915	0.09294	T	.	.	0.060	0.00890	B	.	.	-0.178203	0.03203	0.531	0.77175002357645772	0.11767	0.06014	0.11979	N	AEFBHI	0.078488	0.15837	N	-1.17963065022095	0.05308	0.2416867	-1.16027764242653	0.06585	0.3174695	0.00253478044811312	0.09511	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.17	-1.98	0.07070	-0.406000	0.07249	0.655000	0.20452	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.426000	0.27362	0.3296:0.0:0.2408:0.4295	4.882	0.13044	381	0.83684	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	31	chr6	116927515	.	A	G	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=708;ExcessHet=0;FS=4.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.403;SOR=2.252	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr6	117379068	117379068	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon17:c.G2588A:p.R863Q,ROS1:NM_001378891:exon18:c.G2573A:p.R858Q,ROS1:NM_001378902:exon18:c.G2573A:p.R858Q	.	.	.	.	.	.	.	.	.	.	.	2357963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.0242126532284	0.0002	.	5.794e-05	0.0002	0	0	0	6.016e-05	0	6.128e-05	5.17e-05	8	154602	rs142979736	6.945e-05	7.183e-05	6.843e-05	7.048e-05	0.0003	5.81e-05	5.419e-05	6.814e-05	6.311e-05	0	2.276e-05	3.857e-05	5.048e-05	0	0.0003	8.219e-05	4.993e-05	1.173e-05	3.945e-05	3.941e-05	5.143e-05	2.691e-05	9.657e-05	1.716e-05	1.13e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	2.942e-05	0	0	0.432	0.10180	T	0.1	0.38742	T	0.999	0.77913	D	0.805	0.58399	P	0.102384	0.19795	N	0.439796	0.586758	0.31054	N	1.7	0.43825	L	-0.48	0.70249	T	-0.13	0.08971	N	0.447	0.55106	-0.6178	0.64080	T	0.229	0.59484	T	10	0.28836483	0.46418	T	0.024213	0.47195	T	0.250	0.55888	.	.	0.529210848824	0.52569	0.24712110327579034	0.24626	0.178406829687	0.20072	0.404888182878	0.25748	T	0.083829	0.37143	T	-0.190196	0.22229	T	-0.274311	0.47384	T	0.194888484073546	0.20129	T	0.779122	0.41282	T	0.097247094	0.22920	0.06651537	0.13637	0.097247094	0.22920	0.06651537	0.13636	-3.631	0.18306	T	0.1870325243961725	0.24369	0.094	0.21466	B	.;.	.;.	3.970696	0.58303	24.0	0.99919945969140223	0.98654	0.95321	0.64266	D	AEFBI	0.342625	0.43872	N	0.344898591930903	0.58469	4.019501	0.351398184571919	0.58592	4.030642	0.522349580477172	0.21107	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.91	3.91	0.44383	2.129000	0.41677	7.039000	0.57330	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	14.253	0.65583	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1508.33	33	chr6	117379068	.	C	T	1508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.044;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.273;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr6	117383460	117383460	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon16:c.G2353A:p.V785M,ROS1:NM_001378891:exon17:c.G2338A:p.V780M,ROS1:NM_001378902:exon17:c.G2338A:p.V780M	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0681430558719	.	.	1.647e-05	0	0	0.0001	0	0	0	6.056e-05	1.94e-05	3	154602	rs763408803	6.157e-06	6.84e-06	5.445e-06	6.876e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	3.165e-05	0	0	0	0.0001	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.001	0.83351	D	0.999	0.77913	D	0.94	0.67560	D	0.003247	0.35212	N	0.126462	1	0.08975	N	1.04	0.26193	L	-2.87	0.91478	D	-1.0	0.26422	N	0.528	0.57690	0.353	0.88379	D	0.613	0.86292	D	10	0.45883724	0.59158	T	0.068143	0.70367	D	0.411	0.72252	.	.	0.594283004778	0.59106	0.3067876354728958	0.30591	0.20153445372	0.22553	0.603208482265	0.53357	T	0.102655	0.41059	T	-0.0455175	0.45125	T	-0.134031	0.60630	T	0.805189609527588	0.46710	D	0.852415	0.53747	D	0.09912905	0.23390	0.11242474	0.27127	0.09912905	0.23390	0.11242474	0.27126	-6.413	0.49610	T	0.7205727786744762	0.80165	0.278	0.55644	B	.;.	.;.	4.487747	0.70070	25.5	0.99899695420435364	0.97199	0.67788	0.33560	D	AEFBI	0.209652	0.33562	N	0.367580241732073	0.59672	4.148781	0.343089124134449	0.58092	3.977874	0.0621793507433651	0.15255	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.57	3.68	0.41359	3.885000	0.55896	4.654000	0.44209	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.770000	0.36519	0.0:0.9065:0.0:0.0935	11.018	0.46917	669	0.61081	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1558.33	161	chr6	117383460	.	C	T	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-1.278;SOR=0.658	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1415	18	0	1	0
chr6	117387836	117387836	G	A	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon13:c.C1958T:p.S653F,ROS1:NM_001378891:exon14:c.C1943T:p.S648F,ROS1:NM_001378902:exon14:c.C1943T:p.S648F	.	423	1080	19	0	0	19	0.0087196	.	.	.	721687	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.114952651211	0.0047	0.00219649	0.0042	0.0009	0.0021	0	0.0054	0.0058	0.0044	0.0033	0.0042432	656	154602	rs34203286	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0053	0.0053	0.0008	0.0015	0.0001	0	0.0078	0.0057	0.0054	0.0030	0.0034	0.0035	0.0035	0.0037	0.0033	0.0057	0.0032	0.0031	0.0052	0.0050	0.0006	0	0.0014	0	0.0006	0.0067	0	0.0057	0.0024	0.0040	0.001	0.78490	D	0.003	0.76473	D	0.994	0.66517	D	0.928	0.66279	D	0.002413	0.36612	N	0.195249	0.999895	0.50595	D	2.32	0.66415	M	-2.0	0.85393	D	-3.41	0.68651	D	0.816	0.81162	0.289	0.87388	D	0.613	0.86292	D	10	0.02112943	0.00500	T	0.114953	0.79398	D	0.422	0.73078	.	.	0.644821044561	0.64188	0.8021300788229225	0.80167	0.213380235429	0.23852	0.53136920929	0.43228	T	0.426035	0.77595	T	0.0293118	0.55631	T	0.278723	0.87057	D	0.0213073729332243	0.00832	T	0.870113	0.57479	D	0.3534043	0.57330	0.42678654	0.66445	0.34055412	0.56323	0.44890276	0.67919	-9.397	0.70216	D	0.7435229259330862	0.82561	0.420	0.62849	A	.;.	.;.	4.790111	0.77721	26.8	0.99816200084519258	0.89973	0.87385	0.46908	D	AEFBCI	0.720315	0.67092	D	0.659882239046753	0.77011	6.593096	0.64781511141272	0.78446	6.878302	0.896343261165881	0.25976	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	4.32	0.50899	5.808000	0.68834	9.481000	0.80883	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8436:0.1564	13.330	0.59918	699	0.57969	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1437.33	37	chr6	117387836	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.428;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	117387909	117387909	T	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon13:c.A1885G:p.I629V,ROS1:NM_001378891:exon14:c.A1870G:p.I624V,ROS1:NM_001378902:exon14:c.A1870G:p.I624V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.026851176989	0.0002	.	5.766e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs142877218	5.267e-05	5.267e-05	4.084e-05	6.463e-05	8.944e-05	4.277e-05	3.952e-05	4.612e-05	4.196e-05	0	8.944e-05	0	0	0	0	5.755e-05	9.934e-05	3.478e-05	1.971e-05	1.97e-05	0	4.034e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.16	0.24661	T	0.269	0.22426	T	0.0	0.02946	B	0.001	0.04355	B	0.005025	0.33162	N	0.254221	0.533101	0.31992	D	1.71	0.44315	L	-1.83	0.84122	D	-0.43	0.14390	N	0.073	0.05929	-0.9435	0.42057	T	0.176	0.52084	T	10	0.07884389	0.12613	T	0.026851	0.49721	D	0.077	0.22490	.	.	0.40749426699	0.40369	0.13609339107950397	0.13533	0.0241900907018	0.02455	0.327766269445	0.14597	T	0.085321	0.37476	T	-0.31112	0.07651	T	-0.469344	0.25588	T	0.0711107030510902	0.08806	T	0.533547	0.17787	T	0.030383863	0.02693	0.03534628	0.02770	0.030383863	0.02692	0.03534628	0.02769	-1.855	0.02678	T	0.16586612001138948	0.20589	0.093	0.13923	B	.;.	.;.	2.019064	0.25655	16.84	0.60822810828332774	0.06557	0.86872	0.46250	D	AEFBI	0.213369	0.33895	N	-0.803869632071413	0.13211	0.6492344	-0.698932150416118	0.16987	0.9012191	0.0158572939843655	0.12762	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	0.064	0.13663	0.903000	0.28101	-0.325000	0.09934	-0.728000	0.03745	1.000000	0.71638	0.225000	0.23742	0.027000	0.12703	0.0:0.2427:0.1459:0.6114	5.097	0.14072	699	0.57969	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2056.33	37	chr6	117387909	.	T	C	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.71;DP=825;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.358;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr6	117389410	117389410	G	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon12:c.C1699G:p.L567V,ROS1:NM_001378891:exon13:c.C1726G:p.L576V,ROS1:NM_001378902:exon13:c.C1726G:p.L576V	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	7.7e-05	0.0115815	0.0054	9.621e-05	0.0007	0.0001	0	1.5e-05	0.0044	0.0389	0.0047865	740	154602	rs372925583	0.0022	0.0022	0.0012	0.0033	0.0358	0.0022	0.0022	0.0347	0.0343	5.974e-05	0.0001	0	0	0	0.0021	3.687e-05	0.0023	0.0358	0.0016	0.0016	0.0008	0.0024	0.0489	0.0014	0.0014	0.0438	0.0418	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0489	0.759	0.03576	T	0.01	0.65728	D	0.999	0.77913	D	0.987	0.77487	D	0.087795	0.20515	N	0.410168	0.996728	0.43377	D	1.63	0.41750	L	-1.85	0.84267	D	-1.24	0.31375	N	0.295	0.46742	-0.4089	0.71746	T	0.417	0.76340	T	10	0.0035032928	0.00063	T	.	.	.	0.198	0.48105	.	.	0.556025216835	0.55262	0.41104802722632666	0.41020	0.207928039086	0.23260	0.441803216934	0.30824	T	0.09198	0.38908	T	-0.34345	0.05153	T	-0.238255	0.50969	T	0.104405478387371	0.12834	T	0.775922	0.40781	T	0.093015544	0.21837	0.07608507	0.16817	0.084053695	0.19437	0.06771387	0.14045	-4.244	0.27384	T	0.3175206680856337	0.41559	0.154	0.38080	B	.;.	.;.	2.473556	0.31887	18.88	0.66626410818049864	0.08114	0.86446	0.45728	D	AEFDBCI	0.438361	0.49778	N	0.315319905435026	0.56933	3.85912	0.345105044478776	0.58213	3.99058	0.999566135236297	0.40425	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	3.59	0.40253	2.555000	0.45515	5.067000	0.47142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1462:0.0:0.8538:0.0	9.782	0.39821	716	0.55970	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.005051	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	2096.81	34	chr6	117389410	.	G	C	2096.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.84;SOR=1.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1260	18	1	0	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M,MCM9:NM_001378360:exon12:c.C1850T:p.T617M,MCM9:NM_001378364:exon12:c.C1792T:p.R598W,MCM9:NM_001378356:exon13:c.C1996T:p.R666W,MCM9:NM_001378359:exon13:c.C1850T:p.T617M,MCM9:NM_001378357:exon14:c.C1996T:p.R666W,MCM9:NM_001378367:exon14:c.C1652T:p.T551M,MCM9:NM_017696:exon14:c.C1996T:p.R666W	Ovarian dysgenesis 4, Autosomal recessive	430	1082	10	0	0	10	0.00459982	.	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001340	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.000000	0.02632	1062.33	40	chr6	118816260	.	G	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.76;DP=755;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.596;SOR=0.368	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1258	18	0	1	0
chr6	118913414	118913414	T	C	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378356:exon6:c.A911G:p.N304S,MCM9:NM_001378360:exon6:c.A911G:p.N304S,MCM9:NM_001378364:exon6:c.A911G:p.N304S,MCM9:NM_001378365:exon6:c.A911G:p.N304S,MCM9:NM_153255:exon6:c.A911G:p.N304S,MCM9:NM_001378357:exon7:c.A911G:p.N304S,MCM9:NM_001378358:exon7:c.A911G:p.N304S,MCM9:NM_001378359:exon7:c.A911G:p.N304S,MCM9:NM_001378362:exon7:c.A713G:p.N238S,MCM9:NM_017696:exon7:c.A911G:p.N304S,MCM9:NM_001378361:exon8:c.A713G:p.N238S,MCM9:NM_001378363:exon8:c.A713G:p.N238S,MCM9:NM_001378367:exon8:c.A713G:p.N238S	Ovarian dysgenesis 4, Autosomal recessive	436	1068	18	0	0	18	0.00835655	.	.	.	610456	MCM9-related_disorder|Premature_ovarian_failure|Premature_ovarian_insufficiency|not_provided	.|MONDO:MONDO:0005387,MedGen:C0085215|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.299	0.0537383397236	0.0033	0.00259585	0.0033	0.0014	0.0024	0	0.0003	0.0051	0.0067	0.0009	0.0035511	549	154602	rs78231991	0.0044	0.0044	0.0045	0.0044	0.0108	0.0044	0.0043	0.0086	0.0078	0.0018	0.0030	0.0048	2.519e-05	0.0017	0.0108	0.0050	0.0046	0.0016	0.0034	0.0034	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0047	0.0010	0	0.0037	0.0069	0	0.0013	0.0272	0.0053	0.0057	0.0017	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.515	0.73286	M	3.32	0.06214	T	-4.5	0.78135	D	0.862	0.86511	-1.1239	0.02099	T	0.034	0.14813	T	9	0.02570036	0.00756	T	0.053738	0.65585	D	0.299	0.61955	.	.	0.551593237191	0.54816	0.5811628966577782	0.58045	0.490733214644	0.47783	0.563575088978	0.47772	T	0.442876	0.78688	T	-0.474614	0.00796	T	-0.450801	0.27609	T	0.0149103310604085	0.00317	T	0.914909	0.69682	D	0.43263128	0.62924	0.4806357	0.69922	0.48846358	0.66412	0.5463006	0.73774	-11.947	0.85769	D	.	.	0.251	0.48857	B	.;.;.	.;.;.	3.844313	0.55645	23.6	0.9987237866416947	0.94989	0.99732	0.99045	D	AEFGBHI	0.878345	0.80356	D	0.748846211035157	0.82829	7.860527	0.753974697959786	0.86454	8.894184	0.999999996771299	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	5.84	5.84	0.93373	7.674000	0.83146	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.211	0.81977	489	0.76795	MCM domain|MCM domain;MCM domain|MCM domain;MCM domain|MCM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.010101	0.016304	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1028.33	34	chr6	118913414	.	T	C	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=710;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.735;SOR=0.832	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	18	0	1	0
chr6	119003573	119003573	A	G	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon8:c.T1505C:p.M502T,FAM184A:NM_001288576:exon8:c.T1505C:p.M502T,FAM184A:NM_024581:exon8:c.T1865C:p.M622T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00623705217408	.	.	8.48e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs758614955	1.438e-05	1.436e-05	1.226e-05	1.652e-05	0.0007	9.24e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.08e-05	8.292e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.381	0.13610	T	0.672	0.08594	T	0.082	0.24665	B	0.049	0.25116	B	0.000004	0.62929	D	0.142935	0.953122	0.37816	D	1.415	0.35607	L	1.58	0.29085	T	-0.77	0.31576	N	0.417	0.50056	-1.0735	0.08660	T	0.038	0.16203	T	10	0.17974222	0.33124	T	0.006237	0.16376	T	0.095	0.27398	0.075	0.00517	0.520854953866	0.51730	0.41155916671250126	0.41071	0.191164616582	0.21440	0.427733838558	0.28899	T	0.020849	0.19649	T	-0.202741	0.20411	T	-0.465354	0.26018	T	0.183273570144626	0.19439	T	0.779122	0.41282	T	0.1698728	0.37529	0.15904947	0.37112	0.1698728	0.37528	0.15904947	0.37111	-7.997	0.61050	D	.	.	0.199	0.42332	B	.;.;.;.;.	.;.;.;.;.	1.950314	0.24774	16.52	0.91931808556677719	0.21256	0.92856	0.56713	D	AEFI	0.696755	0.65499	D	-0.116562087426707	0.36672	2.122849	0.0513365945420177	0.42136	2.543438	0.628682267246206	0.21949	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.598000	0.60777	8.112000	0.76595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	1.0:0.0:0.0:0.0	16.628	0.84839	643	0.63827	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1851.33	35	chr6	119003573	.	A	G	1851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=774;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=3.3;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	18	0	1	0
chr6	119188574	119188574	A	G	exonic	MAN1A1	.	nonsynonymous SNV	MAN1A1:NM_005907:exon11:c.T1550C:p.M517T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0179085087195	.	.	8.293e-06	0	0	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs777003446	1.506e-05	1.573e-05	1.635e-05	1.376e-05	0.0002	9.86e-06	8.42e-06	1.214e-05	1.03e-05	0	0	0	0	0	0.0002	1.889e-05	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.066	0.23586	B	0.155	0.34417	B	0.034237	0.24796	N	0.475074	0.999981	0.54805	D	-2.88	0.00019	N	-0.24	0.66834	T	2.61	0.00209	N	0.271	0.30687	-0.8690	0.50604	T	0.023	0.09787	T	10	0.116114795	0.21894	T	0.017909	0.39789	T	0.178	0.44724	0.43	0.47843	0.264728329957	0.26087	0.7892337253845857	0.78875	0.535086270655	0.50895	0.436649560928	0.30120	T	0.162177	0.50673	T	-0.10796	0.35104	T	-0.329207	0.41556	T	0.217682261504169	0.21348	T	0.89891	0.64583	D	0.08981812	0.20998	0.119809054	0.28915	0.08981812	0.20998	0.119809054	0.28915	-0.038	0.00363	T	.	.	0.115	0.23005	B	.	.	2.207198	0.28152	17.70	0.58111572876734541	0.05919	0.98971	0.89357	D	AEFBI	0.800509	0.72647	D	-0.59501414138019	0.19096	0.9967154	-0.241928809457968	0.30050	1.68868	0.999999996512526	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	5.133000	0.64605	5.820000	0.50076	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	15.903	0.79185	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	886.33	34	chr6	119188574	.	A	G	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.56;DP=704;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-3.503;SOR=0.316	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr6	121281591	121281591	T	C	exonic	TBC1D32	.	nonsynonymous SNV	TBC1D32:NM_001367760:exon14:c.A1561G:p.I521V,TBC1D32:NM_152730:exon14:c.A1561G:p.I521V,TBC1D32:NM_001367759:exon15:c.A1561G:p.I521V	.	454	1065	3	0	0	3	0.00140647	.	.	.	2142262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00251110710145	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	0.0001552	24	154602	rs201680026	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	9.027e-05	0.0002	7.691e-05	0	1.875e-05	0.0026	0.0001	0.0003	5.848e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0004	0	0	0	0	0.0003	0	0	0.343	0.12592	T	0.138	0.33780	T	0.016	0.17332	B	0.014	0.16862	B	0.023849	0.26367	N	0.428681	0.999999	0.08975	N	0.855	0.21307	L	1.99	0.21666	T	-0.34	0.12661	N	0.143	0.14338	-0.9301	0.44124	T	0.010	0.03856	T	10	0.02845192	0.00977	T	0.002511	0.05009	T	0.023	0.04649	.	.	0.258779203287	0.25495	0.12932196686837835	0.12857	0.0340966757604	0.03582	.	.	.	0.052911	0.29296	T	-0.519916	0.00440	T	-0.687041	0.06562	T	0.0136535455180337	0.00254	T	0.630737	0.24588	T	0.02943644	0.02437	0.039812546	0.04160	0.02943644	0.02437	0.039812546	0.04160	-5.305	0.39993	T	.	.	0.075	0.05668	B	.;.	.;.	1.166390	0.15557	11.94	0.83327331716363406	0.14665	0.40222	0.26388	N	AEFI	0.050166	0.08742	N	-0.928008160312419	0.10191	0.485827	-0.85098674518066	0.13264	0.6871158	1.01779871517259E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.53	-1.16	0.09181	0.811000	0.26855	0.019000	0.13561	-0.194000	0.09177	0.989000	0.36753	0.013000	0.20296	0.982000	0.59238	0.0:0.4095:0.0:0.5905	9.481	0.38064	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.008772	0.000000	0.025862	0.003049	0.000000	0.02632	1365.33	33	chr6	121281591	.	T	C	1365.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.812;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.35	33	chr6	121447061	.	A	G	62.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.027;DP=926;ExcessHet=0;FS=43.987;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=56.62;MQRankSum=-2.609;QD=0.56;ReadPosRankSum=1.19;SOR=5.784	GT:AD:DP:GQ:PL	0/0:94,0:94:13:0,13,2443	18	0	1	0
chr6	122454224	122454224	C	A	exonic	SERINC1	.	nonsynonymous SNV	SERINC1:NM_020755:exon4:c.G378T:p.W126C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.246805860395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.198e-07	1.37e-06	0	1.444e-06	2.595e-05	0	0	.	.	0	0	0	2.595e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.73	0.94857	H	0.11	0.61208	T	-12.26	0.99689	D	0.97	0.98065	0.283	0.87282	D	0.511	0.81618	D	10	0.9900285	0.99490	D	0.246806	0.88943	D	0.683	0.88396	0.934	0.99018	0.904592210685	0.90363	0.9532848778370155	0.95312	0.777335084149	0.65105	0.800435841084	0.82028	T	0.313983	0.68569	T	0.365368	0.87654	D	0.28705	0.87496	D	0.999934315681458	0.99782	D	0.989501	0.96541	D	0.9583766	0.97116	0.9024333	0.95149	0.9583766	0.97117	0.9024333	0.95150	-13.551	0.91505	D	.	.	0.991	0.93890	P	.	.	5.398805	0.90416	31	0.99400726254463501	0.62794	0.96890	0.71498	D	AEFBI	0.702772	0.65903	D	0.947740677484311	0.93895	12.35261	0.860637239632987	0.93621	12.16593	0.999999374860235	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	4.925000	0.63126	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.348	0.94360	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	341.33	17	chr6	122454224	.	C	A	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.202;DP=582;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.956;SOR=0.859	GT:AD:DP:GQ:PL	0/0:28,0:28:72:0,72,1080	18	0	1	0
chr6	122783744	122783744	G	A	exonic	FABP7	.	nonsynonymous SNV	FABP7:NM_001319042:exon4:c.G364A:p.V122I,FABP7:NM_001446:exon4:c.G376A:p.V126I	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0154215191171	.	0.000399361	9.062e-05	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs77153426	6.322e-05	6.362e-05	5.195e-05	7.461e-05	0.0005	5.252e-05	4.868e-05	0.0001	8.819e-05	0	2.328e-05	0	0	0	0.0005	6.396e-05	3.324e-05	0.0002	7.223e-05	7.875e-05	5.141e-05	9.4e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.062	0.36912	T	0.189	0.28575	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	0.999971	0.53665	D	1.57	0.39626	L	3.06	0.08634	T	-0.62	0.18248	N	0.175	0.18784	-1.0414	0.16890	T	0.011	0.03903	T	9	0.14036414	0.26682	T	0.015422	0.36141	T	0.103	0.29403	0.549	0.66436	0.392855499163	0.38900	.	.	0.16724287449	0.18862	0.270776748657	0.06243	T	0.086488	0.37736	T	-0.382068	0.03024	T	-0.522163	0.20075	T	0.0692095382658023	0.08541	T	0.818818	0.47619	T	0.2120358	0.43545	0.23689161	0.48972	0.2120358	0.43544	0.23689161	0.48971	-4.523	0.31188	T	.	.	0.079	0.07177	B	.	.	2.278303	0.29126	18.02	0.98705368100683655	0.44967	0.91819	0.54331	D	AEFDBCI	0.704641	0.66029	D	-0.0996626492339732	0.37407	2.17588	0.0556642698724249	0.42346	2.559725	0.999991937297232	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.4	3.59	0.40253	4.543000	0.60395	2.841000	0.35080	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.143:0.0:0.857:0.0	11.852	0.51693	539	0.73055	Lipocalin/cytosolic fatty-acid binding domain|Cytosolic fatty-acid binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	786.33	33	chr6	122783744	.	G	A	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=704;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.35;SOR=0.889	GT:AD:DP:GQ:PL	0/1:35,34:69:99:800,0,909	18	0	1	0
chr6	122804961	122804961	T	G	exonic	SMPDL3A	.	nonsynonymous SNV	SMPDL3A:NM_001286138:exon5:c.T398G:p.I133S,SMPDL3A:NM_006714:exon6:c.T791G:p.I264S	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.11371391789	0.0034	0.000599042	0.0022	0.0006	0.0020	0	0.0008	0.0035	0.0011	0.0003	0.0023803	368	154602	rs111976561	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0037	0.0046	0.0045	0.0008	0.0017	0.0007	0	0.0013	0.0019	0.0047	0.0034	0.0003	0.0022	0.0022	0.0025	0.0019	0.0039	0.0020	0.0020	0.0035	0.0033	0.0010	0	0.0018	0	0	0.0007	0	0.0039	0.0014	0.0002	0.603	0.05584	T	0.07	0.43721	T	0.101	0.25775	B	0.089	0.29769	B	0.005503	0.32736	N	0.387835	1	0.08975	N	0.83	0.20963	L	-2.23	0.87116	D	1.29	0.00961	N	0.419	0.46368	-0.7929	0.55561	T	0.116	0.40919	T	10	0.011620134	0.00253	T	0.113714	0.79231	D	0.211	0.50185	.	.	0.367612772649	0.36367	0.6626672323440397	0.66203	0.198794521123	0.22261	0.278028577566	0.07220	T	0.095391	0.39612	T	-0.41803	0.01761	T	-0.371329	0.36733	T	0.00364589370444655	0.00039	T	0.872813	0.58002	D	0.09192448	0.21553	0.05954956	0.11196	0.09192448	0.21553	0.05954956	0.11195	-2.915	0.09294	T	.	.	0.124	0.28435	B	.;.	.;.	-0.044095	0.03989	0.903	0.78124922593559021	0.12165	0.16593	0.19460	N	AEFI	0.657879	0.62935	D	-1.4816592829235	0.01979	0.08692934	-1.48206979491289	0.02491	0.1146656	0.0145208710728464	0.12605	0.638212	0.43195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.7	-3.3	0.04692	-0.228000	0.09119	-0.267000	0.10379	-0.201000	0.08892	0.124000	0.23245	0.000000	0.08366	0.022000	0.11911	0.1037:0.3906:0.0:0.5057	7.623	0.27365	625	0.65529	.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.015152	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1183.33	33	chr6	122804961	.	T	G	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=736;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.916;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr6	123055944	123055944	G	A	exonic	CLVS2	.	nonsynonymous SNV	CLVS2:NM_001010852:exon5:c.G814A:p.D272N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0383180773209	.	.	1.652e-05	0	0	0	0	1.501e-05	0	6.063e-05	1.29e-05	2	154602	rs752596301	9.577e-06	9.577e-06	6.807e-06	1.238e-05	5.797e-05	5.56e-06	4.35e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.094e-06	0	5.797e-05	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.55530	D	0.594	0.41742	T	0.772	0.43974	P	0.225	0.38015	B	0.000000	0.84330	D	0.044688	0.999998	0.58761	D	0.895	0.22405	L	-1.32	0.79761	T	-0.99	0.26200	N	0.456	0.49328	-0.5563	0.66545	T	0.247	0.61589	T	10	0.3031153	0.47844	T	0.038318	0.58150	D	0.298	0.61843	.	.	0.852312023875	0.85089	0.33349658435655105	0.33262	1.01195624948	0.74809	0.698501944542	0.66928	T	0.051983	0.29033	T	-0.147006	0.28781	T	-0.267412	0.48080	T	0.666464447975159	0.39181	D	0.878412	0.59357	D	0.21583436	0.44026	0.23194104	0.48340	0.21583436	0.44026	0.23194104	0.48339	-3.654	0.18876	T	.	.	0.156	0.34536	B	.;.	.;.	4.435368	0.68814	25.3	0.99885994342497131	0.96126	0.98617	0.84749	D	AEFBI	0.920386	0.89228	D	0.457463656549216	0.64629	4.721668	0.603121332604457	0.75167	6.262801	0.999999809180927	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	9.602000	0.97623	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	20.298	0.98571	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2065.33	41	chr6	123055944	.	G	A	2065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=827;ExcessHet=0;FS=0.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.38;SOR=0.785	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1508	18	0	1	0
chr6	123366143	123366143	A	T	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon20:c.T1316A:p.I439N,TRDN:NM_006073:exon20:c.T1313A:p.I438N	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	46	30	160	1284	2	2730	0.978479	.	.	.	229400	Catecholaminergic_polymorphic_ventricular_tachycardia_1|TRDN-related_disorder|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_5|not_specified	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|.|MedGen:CN230736|MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	.	.	0.0159744	0.0069	0.0001	0.0004	0.0807	0	6.017e-05	0.0045	0.0076	0.0063777	986	154602	rs2873479	0.0027	0.0027	0.0026	0.0028	0.0722	0.0026	0.0026	0.0700	0.0691	2.989e-05	0.0002	3.831e-05	0.0722	1.876e-05	0.0005	4.501e-05	0.0052	0.0078	0.0030	0.0031	0.0026	0.0036	0.0740	0.0028	0.0027	0.0679	0.0655	0.0002	0	0.0009	0	0.0740	0	0	0.0001	0.0043	0.0087	0.008	0.58626	D	0.487	0.11656	T	0.0	0.02946	B	0.0	0.01387	B	0.044041	0.23680	N	0.365607	0.999962	0.18878	P	0	0.06538	N	2.23	0.18083	T	0.45	0.03191	N	0.088	0.06587	-0.9344	0.43485	T	0.007	0.02558	T	9	0.002306044	0.00034	T	.	.	.	0.072	0.21020	.	.	0.0551355673512	0.04727	0.0032556515705740867	0.00303	.	.	0.355668485165	0.18753	T	0.063032	0.32070	T	-0.715297	0.00030	T	-0.739403	0.03916	T	0.0266684692791771	0.01498	T	0.351165	0.07832	T	0.08730619	0.20326	0.09042251	0.21204	0.08730619	0.20325	0.09042251	0.21203	-4.269	0.27740	T	0.08204467012720906	0.04297	0.069	0.03093	B	.	.	2.569408	0.33295	19.30	0.78268879735457986	0.12228	0.56028	0.30013	D	AEI	0.142441	0.26488	N	-0.819243745677606	0.12818	0.6273399	-0.634635162015718	0.18605	0.9946618	3.10352811181279E-4	0.06454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	4.68	0.58319	2.383000	0.44008	4.765000	0.44738	-0.890000	0.02392	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0866:0.1712:0.7422:0.0	7.740	0.28004	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	77839.6	147	chr6	123366143	.	A	T	77839.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=2962;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.71;ReadPosRankSum=0.354;SOR=0.737	GT:AD:DP:GQ:PL	0/0:0,0:130:99:3879,3879,3879	18	0	1	0
chr6	125759206	125759206	G	A	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon5:c.G418A:p.V140M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.018932143346	.	0.00119808	0.0004	0	0	0.0052	0	1.502e-05	0	0	0.0003428	53	154602	rs3734638	0.0004	0.0004	0.0004	0.0004	0.0133	0.0004	0.0003	0.0123	0.0120	0	0	0	0.0133	0	0	1.529e-05	0.0002	3.478e-05	0.0003	0.0003	0.0003	0.0002	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0.0068	9.42e-05	0	2.94e-05	0	0.0002	0.136	0.39820	T	0.283	0.38016	T	0.809	0.45342	P	0.33	0.42079	B	0.000200	0.48115	D	0.083458	1	0.81001	D	0.78	0.19475	N	0.87	0.46412	T	-1.17	0.31375	N	0.575	0.62188	-1.1044	0.03598	T	0.042	0.17952	T	10	0.010656804	0.00236	T	0.018932	0.41149	T	0.108	0.30607	.	.	0.465633601861	0.46191	0.6674087234490669	0.66678	0.572036723989	0.53309	0.711754322052	0.68847	T	0.216837	0.57911	T	-0.308591	0.07873	T	-0.215642	0.53155	T	0.0710703666010735	0.08800	T	0.936106	0.76057	D	0.06753746	0.14634	0.12424834	0.29951	0.06753746	0.14633	0.12424834	0.29951	-8.281	0.62969	D	.	.	0.208	0.43489	B	.;.	.;.	4.006843	0.59081	24.1	0.99707937219264109	0.81143	0.90236	0.51253	D	ALL	0.840636	0.75790	D	0.232386196061189	0.52774	3.449545	0.373387274957633	0.59928	4.175135	1.0	0.98316	0.77792	0.99625	0	0.61073	0.52368	0	0.854111	0.99894	0	0.638833	0.57524	0	.	.	5.54	5.54	0.82907	5.769000	0.68518	9.860000	0.82050	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.467	0.94938	932	0.16191	Orange domain|Orange domain|Orange domain;Orange domain|Orange domain|Orange domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1694.33	34	chr6	125759206	.	G	A	1694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=752;ExcessHet=0;FS=3.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.279;SOR=1.013	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	18	0	1	0
chr6	125759470	125759470	A	G	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon5:c.A682G:p.T228A	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00729130553323	.	0.00139776	0.0004	0.0001	0	0	0	0.0002	0.0011	0.0022	0.000401	62	154602	rs139750401	0.0004	0.0004	0.0003	0.0005	0.0035	0.0003	0.0003	0.0024	0.0023	5.974e-05	6.708e-05	3.827e-05	0	0	0.0035	0.0002	0.0004	0.0027	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	2.413e-05	0	0	0	0	0	0	0.0002	0.0005	0.0025	0.475	0.09048	T	0.795	0.08961	T	0.0	0.02946	B	0.001	0.04355	B	0.153660	0.17886	N	0.448895	0.923344	0.39590	D	1.15	0.29295	L	0.35	0.58029	T	-0.72	0.22727	N	0.094	0.09490	-1.0914	0.05303	T	0.042	0.18118	T	10	0.0071214437	0.00162	T	0.007291	0.19334	T	0.095	0.27398	.	.	0.483301346737	0.47961	0.4957109975453682	0.49492	0.401196355383	0.41103	0.731803894043	0.71769	T	0.154818	0.49628	T	-0.472175	0.00824	T	-0.455327	0.27111	T	0.0180938688074911	0.00532	T	0.689231	0.29860	T	0.08754041	0.20388	0.061756387	0.11975	0.08754041	0.20388	0.061756387	0.11975	-1.692	0.02208	T	.	.	0.110	0.23814	B	.;.	.;.	3.301007	0.45312	22.1	0.94970544969204396	0.25898	0.89503	0.50009	D	AEFDBCI	0.574249	0.57711	D	-0.242221064606552	0.31414	1.761273	-0.0473523804659313	0.37604	2.204087	0.999999703206234	0.74766	0.631981	0.41245	0	0.588066	0.40923	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	5.06	3.9	0.44240	3.563000	0.53529	10.740000	0.83657	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9257:0.0:0.0743:0.0	10.825	0.45833	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	5325.33	420	chr6	125759470	.	A	G	5325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.543;DP=1087;ExcessHet=0;FS=4.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.1;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	18	0	1	0
chr6	125855204	125855204	A	G	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001122842:exon3:c.A235G:p.I79V,NCOA7:NM_181782:exon3:c.A235G:p.I79V,NCOA7:NM_001199619:exon4:c.A235G:p.I79V,NCOA7:NM_001199620:exon5:c.A235G:p.I79V	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00810599940913	0.0011	0.000399361	0.0013	0	0.0007	0.0001	0	0.0018	0	0.0019	0.0011255	174	154602	rs150585521	0.0009	0.0009	0.0009	0.0010	0.0111	0.0009	0.0009	0.0089	0.0081	0.0001	0.0004	0.0173	0	0	0.0111	0.0005	0.0025	0.0019	0.0008	0.0008	0.0009	0.0008	0.0012	0.0007	0.0007	0.0006	0.0005	0.0001	0.0044	0.0005	0.0150	0	0	0	0.0007	0.0009	0.0012	0.05	0.91255	D	0.81	0.92824	T	0.104	0.25941	B	0.058	0.26451	B	0.006176	0.32222	N	0.312300	0.588773	0.81001	D	1.955	0.52871	M	2.73	0.47815	T	0.03	0.23808	N	0.345	0.38950	-1.0962	0.04583	T	0.038	0.16333	T	10	0.004961461	0.00106	T	0.008106	0.21495	T	0.026	0.05648	.	.	0.134007934775	0.12933	0.19000288723508557	0.18918	0.156418775729	0.17651	0.595595479012	0.52283	T	0.023264	0.25386	T	-0.392945	0.02574	T	-0.343382	0.39961	T	0.0388171266727768	0.03477	T	0.80432	0.52922	T	0.040065438	0.05651	0.06271172	0.12312	0.040065438	0.05650	0.06271172	0.12312	-4.298	0.28149	T	.	.	0.296	0.64686	B	.;.;.;.;.;.	.;.;.;.;.;.	2.728136	0.35700	19.97	0.99435328740795181	0.64472	0.88945	0.49125	D	AEFBI	0.556325	0.56640	D	-0.21313034229658	0.32593	1.839868	-0.0501618689519236	0.37484	2.195287	0.992149316492074	0.32735	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	4.22	0.49153	3.941000	0.56317	6.869000	0.56783	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8482:0.1518:0.0:0.0	11.356	0.48852	841	0.37094	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.017241	0.006098	0.015152	0.02632	892.33	34	chr6	125855204	.	A	G	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=718;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.714;SOR=0.956	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1179	18	0	1	0
chr6	125874948	125874948	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199621:exon3:c.C19T:p.H7Y,NCOA7:NM_001122842:exon4:c.C331T:p.H111Y,NCOA7:NM_181782:exon4:c.C331T:p.H111Y,NCOA7:NM_001199619:exon5:c.C331T:p.H111Y,NCOA7:NM_001199620:exon6:c.C331T:p.H111Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00878033068884	.	.	8.247e-06	0	0	0	0	0	0.0011	0	3.84e-05	1	26028	rs750270959	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.56456	T	0.053	0.61642	T	0.664	0.41009	P	0.175	0.35598	B	0.000203	0.47681	D	0.184740	0.974496	0.25488	N	1.845	0.48678	L	2.74	0.47477	T	-1.0	0.54059	N	0.452	0.49055	-1.1048	0.03557	T	0.033	0.14377	T	10	0.06749788	0.09413	T	0.00878	0.23172	T	0.049	0.13647	0.24	0.17218	0.102598925029	0.09809	0.27740907516128704	0.27653	0.188505298448	0.21172	0.380751460791	0.22363	T	0.012033	0.41624	T	-0.119869	0.33145	T	-0.40996	0.32230	T	0.215145289897919	0.21219	T	0.892511	0.62902	D	0.032754228	0.03360	0.05167591	0.08365	0.032754228	0.03359	0.05167591	0.08364	-8.966	0.67478	D	.	.	0.085	0.22282	B	.;.;.;.;.	.;.;.;.;.	2.173789	0.27700	17.55	0.98833618248659794	0.47002	0.72655	0.35555	D	AEFBI	0.075013	0.15051	N	-0.190114346238506	0.33546	1.904329	-0.0711355268731635	0.36588	2.131266	0.982518052919571	0.30410	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.35	4.48	0.53973	2.047000	0.40893	5.892000	0.50774	-0.180000	0.10397	0.969000	0.34210	1.000000	0.68203	0.539000	0.29915	0.1535:0.7712:0.0:0.0753	8.606	0.32935	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	862.33	33	chr6	125874948	.	C	T	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=690;ExcessHet=0;FS=10.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.231;SOR=1.293	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr6	127447421	127447421	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C898T:p.P300S	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	7.7e-05	0.00159744	0.0018	0.0003	0.0002	0.0046	0.0148	0.0010	0.0044	0.0007	0.0015265	236	154602	rs76263788	0.0011	0.0011	0.0011	0.0011	0.0141	0.0011	0.0011	0.0131	0.0128	0.0001	4.479e-05	0	0.0141	0.0126	0.0002	0.0003	0.0009	0.0006	0.0015	0.0015	0.0008	0.0022	0.0048	0.0014	0.0013	0.0034	0.0029	0.0002	0	0	0	0.0048	0.0143	0	0.0006	0.0009	0.0012	0.848	0.02753	T	0.476	0.12037	T	0.014	0.16867	B	0.004	0.10090	B	0.402435	0.13106	U	0.609228	1	0.08975	N	0.69	0.16971	N	1.63	0.28002	T	0.73	0.02068	N	0.058	0.02964	-0.9289	0.44299	T	0.009	0.03011	T	10	0.0039969087	0.00077	T	.	.	.	0.008	0.00669	.	.	0.213573922156	0.20996	0.09176652433935321	0.09109	0.0540331048797	0.05968	0.209395766258	0.00786	T	0.00484	0.04259	T	-0.653967	0.00068	T	-0.711339	0.05226	T	0.00225605440968894	0.00023	T	0.533947	0.17813	T	0.017002676	0.00238	0.032399345	0.01971	0.017002676	0.00238	0.032399345	0.01970	-2.657	0.06949	T	.	.	0.075	0.05623	B	.	.	0.493363	0.08624	5.395	0.74906737927935541	0.10872	0.04787	0.10502	N	AEFBI	.	.	.	-1.36910614184235	0.02932	0.1302066	-1.3361146842806	0.03972	0.1864051	0.00473841654186322	0.10692	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.32	-0.509	0.11379	-0.081000	0.11285	-0.836000	0.07236	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.3997:0.2741:0.3262	5.461	0.15915	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.000000	0.000000	0.000000	0.050000	0.000000	0.009146	0.003788	0.02632	1645.33	37	chr6	127447421	.	G	A	1645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.802;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.474;SOR=0.639	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1465	18	0	1	0
chr6	127447573	127447573	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C746T:p.T249M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00727998706539	0.0008	0.00119808	0.0003	0.0016	0.0004	0	0.0002	0.0002	0	6.081e-05	0.0002781	43	154602	rs146595636	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0029	0.0007	0.0013	0	0	0.0005	7.021e-05	0.0004	7.03e-05	0.0007	0.0007	0.0008	0.0006	0.0022	0.0006	0.0006	0.0018	0.0017	0.0022	0	0.0005	0.0009	0	9.468e-05	0	8.829e-05	0.0014	0	0.217	0.19157	T	0.16	0.31427	T	0.0	0.02946	B	0.001	0.04355	B	0.013853	0.01375	N	6.349410	1	0.08975	N	-0.95	0.01262	N	1.5	0.31205	T	0.03	0.06612	N	0.05	0.02179	-1.0146	0.25464	T	0.009	0.03227	T	10	0.004981756	0.00107	T	0.00728	0.19307	T	0.093	0.26882	.	.	0.0846915920261	0.08053	0.13329917933172641	0.13253	0.0548166444233	0.06069	0.191293433309	0.00248	T	0.008551	0.07843	T	-0.671359	0.00054	T	-0.743304	0.03752	T	0.00451062101475603	0.00048	T	0.264674	0.04299	T	0.011644326	0.00020	0.020970143	0.00166	0.011644326	0.00020	0.020970143	0.00166	-4.35	0.28872	T	.	.	0.060	0.00949	B	.	.	-0.784086	0.01139	0.053	0.67355340474055458	0.08330	0.01810	0.05639	N	AEFBI	.	.	.	-1.3257398851145	0.03383	0.1510407	-1.29206190513524	0.04537	0.2142354	0.00456227411996216	0.10618	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.530356	0.10902	0	.	.	5.36	-0.614	0.11009	-0.071000	0.11465	0.248000	0.16392	-1.442000	0.01103	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2965:0.1534:0.2121:0.3379	0.131	0.00068	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1421.33	37	chr6	127447573	.	G	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=891;ExcessHet=0;FS=11.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-2.436;SOR=1.202	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1465	18	0	1	0
chr6	127475667	127475667	G	C	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon6:c.C2359G:p.R787G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0294779720707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.038	0.51421	D	0.94	0.52768	P	0.627	0.51631	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.87	0.49600	L	1.57	0.29342	T	-2.28	0.50830	N	0.848	0.84401	-1.1091	0.03148	T	0.072	0.29259	T	10	0.5849918	0.66060	D	0.029478	0.51979	D	0.258	0.56959	0.198	0.11110	0.220303561663	0.21668	0.9553684904354519	0.95521	.	.	0.809187352657	0.83368	D	0.093602	0.39246	T	0.200191	0.73909	D	0.0497839	0.73568	D	0.952574253082275	0.63824	D	0.922208	0.71716	D	0.73451984	0.79979	0.37964514	0.63015	0.73451984	0.79981	0.37964514	0.63015	-5.021	0.37067	T	.	.	0.869	0.80838	P	.;.	.;.	5.030521	0.83670	28.1	0.99782776199374856	0.86955	0.97867	0.77726	D	AEFDBI	0.856836	0.77413	D	0.524019855487875	0.68514	5.227696	0.55777498529191	0.71938	5.731989	0.999894269987856	0.45129	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	5.169000	0.64823	6.588000	0.56017	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8599:0.1401	15.325	0.73864	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1298.33	44	chr6	127475667	.	G	C	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1041;ExcessHet=0;FS=7.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.392;SOR=1.106	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr6	127813913	127813913	C	T	exonic	THEMIS	.	nonsynonymous SNV	THEMIS:NM_001010923:exon4:c.G728A:p.R243H,THEMIS:NM_001164685:exon4:c.G728A:p.R243H,THEMIS:NM_001164687:exon4:c.G623A:p.R208H,THEMIS:NM_001318531:exon5:c.G437A:p.R146H	.	439	1076	6	1	0	8	0.0037037	.	.	.	2759932	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00256745155505	7.7e-05	.	0.0002	0	0.0002	0	0	0.0002	0.0012	0.0010	0.000194	30	154602	rs368013855	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	6.656e-05	0	0.0001	0	0.0009	6.997e-05	0.0002	0.0012	8.548e-05	8.534e-05	7.718e-05	9.417e-05	0.0008	4.961e-05	3.965e-05	0.0003	0.0002	0	0	0	0.0003	0.0002	0	0.0068	7.355e-05	0	0.0008	0.434	0.09486	T	0.467	0.20486	T	0.016	0.17332	B	0.008	0.13708	B	0.007109	0.31595	N	0.337248	0.772924	0.34173	D	0.505	0.13445	N	2.57	0.13552	T	-0.97	0.25770	N	0.153	0.19055	-1.0606	0.11607	T	0.023	0.09696	T	10	0.017706364	0.00380	T	0.002567	0.05178	T	0.029	0.06676	.	.	0.176091768786	0.17195	0.3615226913735183	0.36066	.	.	0.24865026772	0.03626	T	0.099953	0.40527	T	-0.492274	0.00632	T	-0.536242	0.18666	T	0.02413459597602	0.01162	T	0.879712	0.59601	D	0.056584585	0.11151	0.03909635	0.03923	0.056584585	0.11151	0.03909635	0.03923	-4.003	0.24013	T	.	.	0.067	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.946601	0.24726	16.50	0.97654140307240644	0.35155	0.62010	0.31653	D	AEFDI	0.124676	0.24084	N	-0.389357072914301	0.25847	1.406165	-0.199318720912645	0.31562	1.78735	4.72064898836925E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	2.99	0.33673	1.414000	0.34344	0.820000	0.21843	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.953000	0.50222	0.0:0.5283:0.0:0.4717	5.891	0.18157	597	0.68309	CABIT domain;CABIT domain;.;CABIT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	983.33	35	chr6	127813913	.	C	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.82;SOR=0.647	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr6	128083813	128083813	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon8:c.G1090A:p.V364I,PTPRK:NM_001135648:exon9:c.G1477A:p.V493I,PTPRK:NM_001291981:exon9:c.G1477A:p.V493I,PTPRK:NM_001291982:exon9:c.G1477A:p.V493I,PTPRK:NM_001291984:exon9:c.G1477A:p.V493I,PTPRK:NM_002844:exon9:c.G1477A:p.V493I	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00519169	0.0070	0.0004	0.0011	0.0001	0.0044	0.0039	0.0078	0.0326	0.0062548	967	154602	rs61756668	0.0048	0.0048	0.0038	0.0058	0.0340	0.0047	0.0047	0.0329	0.0325	0.0005	0.0009	0.0060	0.0002	0.0038	0.0090	0.0031	0.0050	0.0340	0.0037	0.0037	0.0030	0.0044	0.0312	0.0034	0.0033	0.0271	0.0256	0.0005	0.0033	0.0009	0.0063	0.0004	0.0041	0.0102	0.0044	0.0024	0.0312	0.742	0.03787	T	0.935	0.02804	T	0.974	0.59044	D	0.973	0.76113	D	0.000004	0.62929	D	0.061993	0.999777	0.48980	D	0.495	0.13372	N	3.03	0.08898	T	-0.19	0.09965	N	0.107	0.14905	-0.9453	0.41764	T	0.019	0.08079	T	10	0.007073939	0.00161	T	.	.	.	0.113	0.31778	.	.	0.174091166621	0.17034	0.16846825306963933	0.16766	1.1496403519	0.79166	0.412784636021	0.26842	T	0.026472	0.22997	T	-0.532851	0.00370	T	-0.513113	0.20995	T	0.0355503563601861	0.02903	T	.	.	.	0.033219963	0.03497	0.04853635	0.07229	0.033219963	0.03497	0.04853635	0.07229	-6.871	0.53792	T	.	.	0.072	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	4.038878	0.59774	24.1	0.94339044324088406	0.24678	0.94404	0.61057	D	AEFGBI	0.500393	0.53367	D	0.0233442524882735	0.42917	2.595069	0.190487342982992	0.49324	3.137001	0.999874279405602	0.44625	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	4.605000	0.60825	4.911000	0.45953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9234:0.0:0.0766	14.122	0.64723	704	0.57414	.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	33	chr6	128083813	.	C	T	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=668;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.648;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr6	129267114	129267114	G	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon16:c.G2217T:p.W739C,LAMA2:NM_001079823:exon16:c.G2217T:p.W739C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	428505	not_specified|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23|LAMA2-related_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy|not_provided|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency	MedGen:CN169374|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837|MONDO:MONDO:0100228,MedGen:C5679788|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:C3661900|MedGen:C1842898	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	.	0.00159744	0.0009	0	0	0.0109	0	0.0002	0	0.0005	0.000815	126	154602	rs192317605	0.0004	0.0004	0.0003	0.0004	0.0096	0.0003	0.0003	0.0088	0.0085	0	0	0.0017	0.0096	0	0	7.226e-06	0.0008	0.0003	0.0005	0.0005	0.0004	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	0	0	0	0.0026	0.0122	0	0	1.471e-05	0.0005	0.0017	0.02	0.49613	D	.	.	.	0.997	0.70673	D	0.87	0.61806	P	0.008141	0.30992	N	0.312733	0.999997	0.58761	D	1.61	0.41143	L	1.43	0.32958	T	-1.13	0.29114	N	0.77	0.77039	-1.1258	0.01994	T	0.078	0.31133	T	10	0.011787742	0.00256	T	.	.	.	0.120	0.33359	0.649	0.78648	0.618542639961	0.61546	0.760060436112687	0.75954	0.556711159787	0.52315	0.591397166252	0.51690	T	0.011468	0.27782	T	-0.286644	0.09976	T	-0.171547	0.57301	T	0.0429463590760804	0.04227	T	0.929307	0.73951	D	0.17743863	0.38710	0.12505859	0.30138	0.17743863	0.38710	0.12505859	0.30137	-10.011	0.73978	D	0.13647330940762226	0.14928	0.846	0.79568	P	.;.;.	.;.;.	5.384097	0.90224	31	0.99143971640019068	0.53627	0.85959	0.45155	D	AEFDBHCI	0.512169	0.54049	D	0.552249401808121	0.70218	5.469501	0.578988368065287	0.73434	5.970065	0.908614953770103	0.26290	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.66	5.66	0.87293	2.341000	0.43640	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0778:0.0:0.9222:0.0	12.259	0.53959	828	0.39726	Laminin EGF domain;Laminin EGF domain;Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1086.33	34	chr6	129267114	.	G	T	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=725;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-2.181;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr6	129349348	129349348	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon31:c.C4487T:p.A1496V,LAMA2:NM_001079823:exon31:c.C4487T:p.A1496V	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	193821	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|not_specified|not_provided|LAMA2-related_muscular_dystrophy|LAMA2-related_disorder|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23	MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|.|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.707	0.0904007695066	0.0030	0.00279553	0.0033	0.0004	0.0021	0	0.0042	0.0051	0.0044	0.0002	0.0032018	495	154602	rs147077184	0.0037	0.0037	0.0038	0.0036	0.0037	0.0036	0.0036	0.0036	0.0036	0.0007	0.0030	0.0238	0	0.0033	0.0026	0.0037	0.0045	0.0003	0.0033	0.0033	0.0036	0.0031	0.0050	0.0031	0.0030	0.0041	0.0038	0.0006	0.0077	0.0050	0.0253	0	0.0027	0.0034	0.0039	0.0066	0.0002	0.008	0.58626	D	.	.	.	0.992	0.64738	D	0.953	0.69275	D	0.000001	0.62929	D	0.057949	0.999998	0.58761	D	1.875	0.49914	L	0.01	0.62459	T	-3.31	0.65972	D	0.679	0.68603	-0.5504	0.66772	T	0.292	0.66364	T	10	0.032247603	0.01373	T	0.090401	0.75510	D	0.707	0.89514	.	.	0.754865313577	0.75264	0.4663440049027086	0.46553	0.372364583653	0.38730	0.537038445473	0.44027	T	0.034141	0.46418	T	-0.226162	0.17160	T	-0.0977867	0.63568	T	0.0151663096191734	0.00331	T	0.880812	0.59928	D	0.35735852	0.57635	0.25965613	0.51717	0.34192947	0.56432	0.26140735	0.51917	-7.786	0.59602	D	0.7295250769559025	0.81113	0.152	0.33687	B	.;.;.	.;.;.	3.478947	0.48568	22.6	0.99908778998121939	0.97875	0.98154	0.80066	D	AEFBI	0.553701	0.56484	D	0.310410150340222	0.56683	3.833346	0.221244135255235	0.51029	3.288973	0.999916251424678	0.45857	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.98	5.09	0.68647	4.298000	0.58863	4.823000	0.45134	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.305000	0.24618	0.133:0.867:0.0:0.0	16.359	0.83078	824	0.40336	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.015152	0.006793	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	609.33	34	chr6	129349348	.	C	T	609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=722;ExcessHet=0;FS=4.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=-0.141;SOR=1.255	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	18	0	1	0
chr6	129353339	129353339	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon32:c.G4699A:p.E1567K,LAMA2:NM_001079823:exon32:c.G4699A:p.E1567K	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	560580	not_provided|LAMA2-related_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0145008288196	7.7e-05	.	1.649e-05	0	0	0	0	1.5e-05	0	6.057e-05	1.29e-05	2	154602	rs371388948	8.894e-06	8.893e-06	9.53e-06	8.251e-06	0.0003	4.96e-06	3.82e-06	6.105e-05	2.526e-05	2.988e-05	0	0	0	0	0.0003	5.396e-06	1.656e-05	3.479e-05	1.315e-05	1.313e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.902	0.02412	T	.	.	.	0.157	0.28234	B	0.056	0.26147	B	0.000878	0.41335	D	0.246336	0.532734	0.31477	N	1.25	0.31749	L	0.59	0.53943	T	-0.74	0.20791	N	0.424	0.46368	-1.0316	0.19937	T	0.045	0.19356	T	10	0.22528094	0.39353	T	0.014501	0.34657	T	0.130	0.35528	.	.	0.608018665328	0.60488	0.6217874070114341	0.62111	0.16675056428	0.18812	0.429192513227	0.29097	T	0.01559	0.29113	T	-0.276252	0.11069	T	-0.43194	0.29715	T	0.547737836837769	0.34392	D	0.880112	0.59716	D	0.08493717	0.19680	0.09694158	0.23055	0.08493717	0.19680	0.09694158	0.23055	-3.74	0.19910	T	0.5526393236223425	0.62108	0.102	0.18206	B	.;.;.	.;.;.	3.370401	0.46573	22.3	0.98118589316405924	0.38416	0.93652	0.58806	D	ALL	0.673837	0.63976	D	-0.114731305110144	0.36751	2.128547	0.0127322940641709	0.40305	2.403272	0.999999999999936	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.75	3.93	0.44666	5.596000	0.67261	6.600000	0.56053	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2375:0.6393:0.1232	12.505	0.55317	839	0.37672	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002523	0.000000	0.001362	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2506.33	39	chr6	129353339	.	G	A	2506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=789;ExcessHet=0;FS=4.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.067;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr6	129464354	129464354	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon50:c.C7057T:p.R2353C,LAMA2:NM_001079823:exon50:c.C7057T:p.R2353C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	301389	LAMA2-related_muscular_dystrophy|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|Primary_dilated_cardiomyopathy|not_provided|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23	MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.641	0.149056862123	0.0002	.	8.254e-05	0	8.738e-05	0.0001	0	0.0001	0	6.057e-05	6.47e-05	10	154602	rs145885540	8.085e-05	8.14e-05	6.409e-05	9.778e-05	0.0009	6.879e-05	6.431e-05	0.0003	0.0002	0.0001	0.0001	3.838e-05	7.563e-05	0	0.0009	8.107e-05	8.295e-05	3.48e-05	0.0001	0.0001	0.0001	0.0002	0.0007	9.769e-05	8.28e-05	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0	0.0001	0	0	0.0	0.91255	D	.	.	.	0.97	0.56973	D	0.337	0.42281	B	0.000000	0.84330	D	0.094456	1	0.81001	D	2.39	0.68882	M	-1.27	0.79277	T	-5.0	0.82341	D	0.903	0.94432	-0.6505	0.62692	T	0.247	0.61589	T	9	0.8161694	0.80855	D	0.149057	0.83091	D	0.641	0.86333	.	.	0.902513789421	0.90154	0.7105046387316458	0.70992	0.377055545769	0.39141	0.797083973885	0.81519	T	0.067677	0.74598	T	0.170771	0.71194	D	0.303717	0.88368	D	0.731377124786377	0.42282	D	0.922208	0.71716	D	0.5583806	0.70419	0.5080504	0.71569	0.5583806	0.70421	0.5080504	0.71569	-14.153	0.93543	D	0.736636749109076	0.81856	0.883	0.81647	P	.;.;.	.;.;.	4.834664	0.78871	27.0	0.99882579619656287	0.95813	0.96484	0.69368	D	AEFGBI	0.874008	0.79667	D	0.453357154322965	0.64394	4.692888	0.551916713069094	0.71531	5.668994	0.999915716367529	0.45857	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	5.677000	0.67810	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:1.0:0.0:0.0	20.192	0.98232	758	0.50837	Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	973.33	36	chr6	129464354	.	C	T	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.648;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.33;SOR=0.645	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	129512425	129512425	A	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_001079823:exon62:c.A8908T:p.T2970S,LAMA2:NM_000426:exon63:c.A8920T:p.T2974S	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	456130	Inborn_genetic_diseases|not_provided|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23|Merosin_deficient_congenital_muscular_dystrophy|LAMA2-related_muscular_dystrophy	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0150044340442	0.0002	.	4.946e-05	0.0005	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs140202046	3.011e-05	3.01e-05	3.814e-05	2.201e-05	0.0010	2.283e-05	2.033e-05	0.0008	0.0007	0.0010	6.709e-05	0	0	0	0.0002	8.998e-07	6.627e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0001	0	0	0	0	0	0.0010	0	0.183	0.21718	T	.	.	.	0.089	0.25085	B	0.03	0.21741	B	0.000202	0.47681	D	0.207467	0.907465	0.27577	N	-0.41	0.02942	N	1.11	0.38883	T	0.45	0.03191	N	0.255	0.37197	-1.0312	0.20066	T	0.016	0.06711	T	9	0.15621036	0.29424	T	0.015004	0.35474	T	0.055	0.15663	0.407	0.44066	0.530409124356	0.52689	0.27228903208989796	0.27141	0.0878513026773	0.09920	0.469447463751	0.34604	T	0.011377	0.26261	T	-0.410534	0.01971	T	-0.458731	0.26738	T	0.0569913872001711	0.06687	T	0.762924	0.38892	T	0.09622311	0.22661	0.1330865	0.31921	0.09622311	0.22661	0.1330865	0.31920	-1.689	0.02200	T	0.09697154172927118	0.06771	0.080	0.07745	B	.;.;.	.;.;.	1.780743	0.22640	15.70	0.94027639841618738	0.24139	0.93187	0.57552	D	AEFBI	0.502734	0.53502	D	-0.370049254937731	0.26541	1.449351	-0.133382055883458	0.34054	1.954638	0.997886283795499	0.36150	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.59	5.59	0.84677	3.940000	0.56310	9.256000	0.79525	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	1.0:0.0:0.0:0.0	15.776	0.77992	741	0.52966	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1468.33	34	chr6	129512425	.	A	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.048;SOR=0.763	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1276	18	0	1	0
chr6	129629396	129629396	T	C	exonic	ARHGAP18	.	nonsynonymous SNV	ARHGAP18:NM_033515:exon5:c.A743G:p.K248R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0097	0.00938498	0.0028	0.0324	0.0005	0	0	1.499e-05	0.0011	0	0.0026714	413	154602	rs34706122	0.0009	0.0009	0.0011	0.0008	0.0341	0.0009	0.0009	0.0324	0.0318	0.0341	0.0015	0	0	0	0.0005	2.968e-05	0.0017	1.159e-05	0.0088	0.0089	0.0091	0.0085	0.0310	0.0084	0.0083	0.0296	0.0290	0.0310	0	0.0021	0	0	0	0.0068	7.352e-05	0.0071	0	.	.	.	0.598	0.07999	T	0.001	0.07471	B	0.002	0.06944	B	0.018726	0.27416	N	0.427988	0.938035	0.26874	N	0.235	0.09667	N	3.27	0.06602	T	.	.	.	0.087	0.06454	-0.9809	0.34794	T	0.015	0.06090	T	8	0.0029939413	0.00049	T	.	.	.	0.054	0.15330	.	.	0.478680857624	0.47498	0.16599929938485064	0.16519	0.116003131437	0.13085	0.297199904919	0.09984	T	0.018995	0.15211	T	-0.747621	0.00018	T	-0.822308	0.01406	T	0.00396790328671601	0.00042	T	0.533547	0.17787	T	0.011963961	0.00025	0.02275557	0.00294	0.011963961	0.00025	0.02275557	0.00294	-4.544	0.31460	T	.	.	0.064	0.01645	B	.	.	1.058423	0.14402	10.98	0.96074164088604286	0.28632	0.53292	0.29336	D	AEFBI	0.071149	0.14154	N	-0.57705361791642	0.19644	1.029658	-0.453879567364334	0.23439	1.278236	0.992734040216211	0.32949	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	2.83	0.32150	-0.013000	0.12615	0.105000	0.14702	-0.115000	0.14600	0.876000	0.30908	0.982000	0.30508	0.240000	0.23001	0.1904:0.241:0.1255:0.4431	0.773	0.00962	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	633.33	33	chr6	129629396	.	T	C	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=674;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.592;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr6	129641903	129641903	C	T	exonic	ARHGAP18	.	nonsynonymous SNV	ARHGAP18:NM_033515:exon2:c.G229A:p.D77N	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0532124861861	0.0004	.	0.0004	9.623e-05	0.0016	0	0	0.0004	0	0.0001	0.000401	62	154602	rs146502081	0.0004	0.0004	0.0004	0.0004	0.0080	0.0003	0.0003	0.0061	0.0055	0.0003	0.0014	0.0003	0	0	0.0080	0.0003	0.0007	8.116e-05	0.0006	0.0006	0.0004	0.0007	0.0037	0.0005	0.0004	0.0030	0.0027	7.241e-05	0.0055	0.0037	0.0003	0	0	0	0.0003	0.0010	0	.	.	.	0.053	0.47336	T	0.357	0.33788	B	0.217	0.37636	B	0.000134	0.49741	D	0.168352	0.959944	0.38154	D	2.38	0.68558	M	1.99	0.21666	T	.	.	.	0.308	0.34767	-0.7415	0.58376	T	0.171	0.51181	T	8	0.023521185	0.00618	T	0.053212	0.65380	D	0.295	0.61502	.	.	0.567712783826	0.56435	0.36251872275418046	0.36165	0.441094502733	0.44109	0.457587778568	0.32980	T	0.260802	0.63222	T	-0.609004	0.00128	T	-0.677648	0.07128	T	0.413955539464951	0.29465	T	0.835616	0.50622	T	0.06613784	0.14201	0.082284436	0.18768	0.06613784	0.14201	0.082284436	0.18767	-5.557	0.42398	T	.	.	0.191	0.41016	B	.	.	2.925112	0.38847	20.8	0.99225452485856991	0.56057	0.89613	0.50190	D	AEFBI	0.194684	0.32176	N	-0.157432802250512	0.34918	1.999274	-0.178158007767175	0.32341	1.839025	0.999993700500636	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.99	4.17	0.48303	2.042000	0.40844	2.229000	0.31515	-0.218000	0.08083	0.976000	0.34826	0.992000	0.31684	0.412000	0.27050	0.0:0.7507:0.2493:0.0	16.369	0.83179	688	0.59122	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.012228	0.020468	0.000000	0.008621	0.000000	0.000000	0.02632	1151.33	40	chr6	129641903	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.3;SOR=0.726	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1278	18	0	1	0
chr6	130144710	130144710	T	G	exonic	SAMD3	.	nonsynonymous SNV	SAMD3:NM_001277185:exon11:c.A1445C:p.K482T,SAMD3:NM_001017373:exon12:c.A1373C:p.K458T,SAMD3:NM_001258275:exon14:c.A1373C:p.K458T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.020636192408	.	.	8.254e-06	9.63e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs760129367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.42487	T	0.018	0.60337	D	0.319	0.32965	B	0.193	0.36509	B	0.003198	0.35300	N	0.199443	0.520786	0.31895	D	2.35	0.67516	M	0.84	0.47815	T	-0.86	0.24676	N	0.179	0.24758	-1.0879	0.05890	T	0.062	0.25958	T	10	0.17444801	0.32324	T	0.020636	0.43275	T	0.090	0.26093	0.322	0.30226	0.567821670524	0.56447	0.3094454451243143	0.30857	0.0518266228191	0.05701	0.314308285713	0.12558	T	0.051484	0.28893	T	-0.227722	0.16951	T	-0.383356	0.35328	T	0.220024157395835	0.21465	T	0.794021	0.43594	T	0.10496273	0.24816	0.09155652	0.21533	0.10496273	0.24816	0.09155652	0.21532	-5.39	0.40910	T	.	.	0.101	0.17657	B	.;.;.;.	.;.;.;.	2.251745	0.28762	17.90	0.99446756443886608	0.65071	0.89464	0.49945	D	AEFBI	0.374665	0.45948	N	-0.23153491661883	0.31845	1.789872	-0.183173700547184	0.32154	1.826543	0.00616354876641816	0.11146	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.645665	0.59343	0	.	.	5.29	4.13	0.47661	2.657000	0.46389	0.502000	0.19004	0.665000	0.62972	0.998000	0.41325	0.000000	0.08366	0.019000	0.11356	0.0:0.0776:0.0:0.9224	9.954	0.40825	932	0.16191	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	33	chr6	130144710	.	T	G	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.28;SOR=0.751	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1246	18	0	1	0
chr6	130834932	130834932	T	-	exonic	SMLR1	.	frameshift deletion	SMLR1:NM_001195597:exon2:c.301delT:p.Y101Tfs*4	.	433	1087	2	0	0	2	0.000919118	.	.	.	2820698	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0	0.0054	0	0	0.0014	0	0.0032	0.0003074	8	26028	rs765201462	0.0028	0.0026	0.0027	0.0028	0.0032	0.0027	0.0027	0.0028	0.0028	0.0002	0.0005	7.952e-05	2.799e-05	0.0079	0.0002	0.0029	0.0022	0.0032	0.0024	0.0024	0.0021	0.0026	0.0034	0.0022	0.0021	0.0031	0.0029	0.0004	0	0.0006	0	0	0.0079	0	0.0034	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1804.29	33	chr6	130834931	.	GT	G	1804.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=733;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.036;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	18	0	1	0
chr6	130956250	130956250	G	A	exonic	EPB41L2	.	nonsynonymous SNV	EPB41L2:NM_001135554:exon2:c.C236T:p.P79L,EPB41L2:NM_001135555:exon2:c.C236T:p.P79L,EPB41L2:NM_001199388:exon2:c.C236T:p.P79L,EPB41L2:NM_001252660:exon2:c.C236T:p.P79L,EPB41L2:NM_001350299:exon2:c.C236T:p.P79L,EPB41L2:NM_001350301:exon2:c.C236T:p.P79L,EPB41L2:NM_001350302:exon2:c.C236T:p.P79L,EPB41L2:NM_001350303:exon2:c.C236T:p.P79L,EPB41L2:NM_001350304:exon2:c.C236T:p.P79L,EPB41L2:NM_001350305:exon2:c.C236T:p.P79L,EPB41L2:NM_001350306:exon2:c.C236T:p.P79L,EPB41L2:NM_001350307:exon2:c.C236T:p.P79L,EPB41L2:NM_001350308:exon2:c.C236T:p.P79L,EPB41L2:NM_001350309:exon2:c.C236T:p.P79L,EPB41L2:NM_001350310:exon2:c.C236T:p.P79L,EPB41L2:NM_001350311:exon2:c.C236T:p.P79L,EPB41L2:NM_001350312:exon2:c.C236T:p.P79L,EPB41L2:NM_001350313:exon2:c.C236T:p.P79L,EPB41L2:NM_001350314:exon2:c.C236T:p.P79L,EPB41L2:NM_001350315:exon2:c.C236T:p.P79L,EPB41L2:NM_001431:exon2:c.C236T:p.P79L	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0511505999537	0.0018	0.000798722	0.0031	0.0003	0.0011	0	0.0080	0.0040	0.0044	0.0023	0.0028266	437	154602	rs144686133	0.0028	0.0028	0.0027	0.0028	0.0029	0.0027	0.0027	0.0028	0.0028	0.0002	0.0008	7.652e-05	5.038e-05	0.0073	0.0002	0.0029	0.0023	0.0029	0.0024	0.0024	0.0021	0.0026	0.0035	0.0022	0.0021	0.0029	0.0027	0.0005	0	0.0011	0	0	0.0080	0	0.0032	0.0005	0.0035	0.002	0.91255	D	0.11	0.92824	T	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.000000	0.999996	0.58761	D	1.895	0.50365	L	-1.79	0.84122	D	-3.91	0.98823	D	0.734	0.78072	0.303	0.87607	D	0.627	0.86879	D	10	0.014982134	0.00315	T	0.051151	0.64543	D	0.603	0.84345	.	.	0.853626787384	0.85221	0.6155727044105567	0.61489	0.561187484419	0.52626	0.681578755379	0.64495	T	0.510067	0.82661	D	0.045679	0.57784	T	0.293242	0.87866	D	0.0199905849654302	0.00700	T	0.978677	0.96919	D	0.24405195	0.47350	0.3402337	0.59778	0.24405195	0.47350	0.3402337	0.59778	-12.174	0.86042	D	.	.	0.721	0.83105	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.927090	0.81204	27.5	0.99862032267696077	0.94002	0.84136	0.43220	D	AEFGBHCI	0.797846	0.72456	D	0.730496843237386	0.81632	7.567838	0.76776489309684	0.87477	9.235785	0.999999991583696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.631631	0.49550	0	.	.	6.17	6.17	0.99707	7.343000	0.78559	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.060	0.93068	858	0.34001	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	3036.33	33	chr6	130956250	.	G	A	3036.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=887;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.614;SOR=0.734	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1416	18	0	1	0
chr6	131650104	131650104	C	T	exonic	ENPP3	.	stopgain	ENPP3:NM_005021:exon3:c.C232T:p.R78X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000599042	0.0011	0.0007	8.654e-05	0.0003	0.0021	0.0015	0.0011	0.0002	0.0011578	179	154602	rs144467409	0.0013	0.0013	0.0014	0.0012	0.0015	0.0013	0.0012	0.0015	0.0014	0.0002	0.0002	3.827e-05	7.557e-05	0.0020	0.0002	0.0015	0.0010	0.0002	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	0.0004	0	0.0003	0	0	0.0013	0	0.0015	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.001329	0.39379	N	0.114128	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.81	0.82862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152235	0.69478	D	0.442221	0.93382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.317135	0.99692	46	0.9984396131537302	0.92403	0.64848	0.32541	D	AEFBI	0.142210	0.26459	N	0.449966333153296	0.64202	4.669415	0.245677272724609	0.52405	3.415426	0.623616473956246	0.21906	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.7	4.83	0.61880	2.268000	0.42996	4.049000	0.41491	0.599000	0.40250	0.920000	0.31959	0.999000	0.35428	0.303000	0.24570	0.1578:0.8422:0.0:0.0	13.384	0.60233	847	0.35998	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	34	chr6	131650104	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=729;ExcessHet=0;FS=9.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.928;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr6	131733598	131733598	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon21:c.C1964T:p.S655L	.	.	.	.	.	.	.	.	.	.	.	2351114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0378497273283	.	0.000199681	0.0002	0.0002	0	0.0009	0.0009	6.002e-05	0	0.0002	0.0001682	26	154602	rs200877330	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	2.988e-05	0	0	0.0007	0.0003	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0006	0.0004	2.406e-05	0	0.0002	0	0.0013	0.0002	0	0.0001	0	0.0008	0.145	0.25154	T	0.354	0.17268	T	0.026	0.19406	B	0.027	0.21085	B	0.092302	0.20281	N	0.459428	0.981583	0.81001	D	2.345	0.67358	M	-0.85	0.74371	T	-2.9	0.60827	D	0.301	0.34012	-0.7082	0.60041	T	0.209	0.56906	T	10	0.0413872	0.02790	T	0.03785	0.57866	D	0.160	0.41473	.	.	0.705039402834	0.70247	0.5478880700233967	0.54714	0.07061311208	0.07910	0.467587828636	0.34349	T	0.074363	0.34920	T	-0.387314	0.02800	T	-0.410909	0.32120	T	0.0457499533232505	0.04739	T	0.808019	0.45805	T	0.23522595	0.46355	0.14354712	0.34111	0.23522595	0.46355	0.14354712	0.34110	-4.188	0.26577	T	.	.	0.084	0.10835	B	.;.	.;.	3.178503	0.43136	21.7	0.99414205395434319	0.63453	0.85867	0.45050	D	ALL	0.462519	0.51183	N	-0.0860917098323761	0.38002	2.219189	0.0621876315976945	0.42665	2.58458	0.99999999764544	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.591603	0.36755	0	.	.	5.91	4.12	0.47504	1.775000	0.38213	0.109000	0.14755	0.549000	0.26987	1.000000	0.71638	0.504000	0.25220	0.995000	0.73285	0.0:0.8657:0.0:0.1343	12.685	0.56310	877	0.30165	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1073.33	34	chr6	131733598	.	C	T	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.663;DP=724;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.962;SOR=0.538	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1087,0,1217	18	0	1	0
chr6	131877112	131877112	C	G	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon18:c.C1844G:p.P615R	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0388138269293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.359	0.17014	T	0.378	0.34287	B	0.127	0.32738	B	0.029349	0.25467	N	0.449086	0.706215	0.30057	N	2.095	0.58118	M	-0.72	0.72994	T	-4.23	0.75935	D	0.591	0.61087	-0.7106	0.59923	T	0.264	0.63512	T	10	0.5348557	0.63389	D	0.038814	0.58447	D	0.347	0.66863	0.563	0.68364	0.802661295271	0.80082	0.5772090811819833	0.57649	0.503732087733	0.48681	0.32420194149	0.14057	T	0.741389	0.92840	D	0.0283268	0.55499	T	-0.197087	0.54922	T	0.918726444244385	0.57711	D	0.607939	0.22935	T	0.12677595	0.29684	0.14778535	0.34960	0.12677595	0.29684	0.14778535	0.34959	-10.31	0.75746	D	0.3173486256967082	0.41541	0.095	0.15115	B	.;.	.;.	3.009276	0.40238	21.1	0.96787395035097656	0.31098	0.76083	0.37289	D	AEFBI	0.575472	0.57785	D	0.0593019530347066	0.44572	2.728761	0.0590438520433336	0.42510	2.572513	0.754529619720516	0.23412	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.61	4.69	0.58546	3.331000	0.51790	4.804000	0.44991	0.599000	0.40250	0.188000	0.24163	0.984000	0.30665	0.109000	0.18697	0.1435:0.8564:0.0:0.0	14.959	0.70788	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	33	chr6	131877112	.	C	G	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.765;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	18	0	1	0
chr6	131950887	131950887	G	C	exonic	CCN2	.	nonsynonymous SNV	CCN2:NM_001901:exon2:c.C172G:p.R58G	.	1	1484	35	2	0	39	0.0129697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	.	0.00179712	0.0058	0	0	0	.	0.0114	0	0.0043	0.0008279	128	154602	rs111779788	0.0029	0.0028	0.0029	0.0030	0.0098	0.0028	0.0028	0.0074	0.0066	0.0004	0.0025	0.0079	0	0.0042	0.0098	0.0027	0.0042	0.0043	0.0023	0.0023	0.0022	0.0025	0.0037	0.0021	0.0020	0.0024	0.0023	0.0005	0	0.0027	0.0063	0.0004	0.0050	0.0034	0.0028	0.0024	0.0037	0.033	0.44358	D	0.058	0.46182	T	0.948	0.53620	P	0.804	0.58350	P	0.000055	0.53742	D	0.113091	0.612338	0.30850	N	2.945	0.84822	M	0.3	0.58755	T	-3.43	0.67359	D	0.543	0.57006	-0.7450	0.58195	T	0.196	0.55056	T	10	0.013961047	0.00294	T	.	.	.	0.323	0.64522	.	.	0.796444336488	0.79454	0.4768576801871693	0.47605	1.47171924055	0.86544	0.900508642197	0.96497	D	0.337636	0.70700	T	-0.260269	0.12869	T	-0.146779	0.59528	T	0.0537744793132564	0.06151	T	0.946505	0.79528	D	0.7260425	0.79500	0.6255168	0.78171	0.7260425	0.79502	0.6255168	0.78172	-11.85	0.84113	D	.	.	0.228	0.45990	B	.	.	4.691501	0.75173	26.3	0.99747779445746043	0.84002	0.57040	0.30273	D	ALL	0.599166	0.59229	D	0.170819427394724	0.49802	3.176582	0.0928453673664277	0.44187	2.705418	0.999999897586289	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.1	3.05	0.34272	0.429000	0.21131	6.921000	0.56929	0.586000	0.30580	0.215000	0.24480	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.6052:0.3948	13.400	0.60323	435	0.80441	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007437	0.000000	0.003030	0.015924	0.000000	0.000000	0.019380	0.004310	0.02632	412.33	39	chr6	131950887	.	G	C	412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.619;DP=756;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=0.277;SOR=0.255	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr6	132461845	132461845	T	C	exonic	STX7	.	nonsynonymous SNV	STX7:NM_001326580:exon10:c.A709G:p.M237V	.	465	1055	2	0	0	2	0.00094697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00406283414238	.	.	0.0004	0	0	0	0	0.0004	0	0.0005	3.88e-05	6	154602	rs779199584	8.487e-05	8.414e-05	7.513e-05	9.491e-05	0.0050	7.221e-05	6.751e-05	0.0035	0.0030	6.358e-05	8.494e-05	0.0007	0	0	0.0050	3.165e-05	0.0002	0.0003	6.564e-05	6.561e-05	7.708e-05	5.369e-05	0.0002	3.513e-05	2.614e-05	1.972e-05	1.124e-05	0	0	0	0.0006	0	0	0.0102	5.879e-05	0	0.0002	0.051	0.39334	T	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	.	.	.	1.57	0.29342	T	0.84	0.01761	N	0.174	0.18649	-0.9915	0.32218	T	0.013	0.04890	T	6	0.045912325	0.03719	T	0.004063	0.09681	T	0.032	0.07718	0.341	0.33302	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.572118	0.00215	T	-0.755037	0.03293	T	0.0204851030999364	0.00748	T	0.277772	0.04791	T	.	.	.	.	.	.	.	.	-2.544	0.06089	T	.	.	0.079	0.07083	B	.	.	0.877826	0.12511	9.040	0.34617805201853169	0.02127	0.55990	0.30003	D	AEFBI	0.055836	0.10272	N	-0.972287001596444	0.09199	0.4343823	-1.10141024778881	0.07674	0.3741794	0.992168796931262	0.32742	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.83	-7.47	0.01221	-0.606000	0.05750	-2.831000	0.03316	-0.802000	0.03151	0.934000	0.32416	0.000000	0.08366	0.069000	0.16583	0.1238:0.2392:0.3804:0.2566	2.065	0.03383	820	0.40914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1830.83	66	chr6	132461845	.	T	C	1830.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.195;DP=759;ExcessHet=0.119;FS=1.247;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=2.51;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	17	0	2	0
chr6	132538562	132538562	G	-	exonic	TAAR9	.	frameshift deletion	TAAR9:NM_175057:exon1:c.273delG:p.R92Gfs*47	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	0.0036	0.0001	0.0002	0.0001	0	0.0002	0.0035	0.0305	0.0001153	3	26028	rs748653127	0.0020	0.0020	0.0012	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	9.101e-05	9.225e-05	0	5.048e-05	0	0.0051	8.411e-05	0.0022	0.0311	0.0012	0.0012	0.0006	0.0018	0.0345	0.0011	0.0010	0.0303	0.0286	7.221e-05	0.0011	0.0003	0	0.0002	0	0	7.353e-05	0.0019	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	1829.29	33	chr6	132538561	.	TG	T	1829.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=1247;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.045;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1333	18	0	1	0
chr6	132553519	132553519	A	C	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.A827C:p.D276A	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00978816711274	.	0.00179712	0.0007	0	0	0	0	1.499e-05	0.0011	0.0047	0.0005821	90	154602	rs541224641	0.0003	0.0003	0.0001	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	2.988e-05	0	0	0	0	0.0009	6.295e-06	0.0002	0.0055	0.0002	0.0002	7.709e-05	0.0003	0.0064	0.0002	0.0001	0.0047	0.0040	2.406e-05	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.958	0.02562	T	0.012	0.16265	B	0.012	0.16012	B	0.163658	0.17585	N	0.478799	1	0.08975	N	1.225	0.30651	L	-0.49	0.70365	T	-2.4	0.52776	N	0.33	0.37093	-1.0267	0.21527	T	0.073	0.29610	T	10	0.008276135	0.00188	T	0.009788	0.25540	T	0.169	0.43123	0.566	0.68768	0.405150804464	0.40131	0.179677572160014	0.17886	0.0527421646329	0.05814	0.290662914515	0.09018	T	0.021024	0.16443	T	-0.41049	0.01972	T	-0.360913	0.37946	T	0.0263710992219338	0.01456	T	0.89651	0.63872	D	0.15959647	0.35842	0.12346664	0.29770	0.15959647	0.35842	0.12346664	0.29770	-9.83	0.72888	D	.	.	0.236	0.47005	B	.	.	2.376401	0.30495	18.46	0.12386691235252695	0.00214	0.07934	0.13919	N	AEFBI	0.041180	0.06227	N	-0.940806920875025	0.09901	0.4706668	-0.92828114218113	0.11428	0.5821467	5.68664806712841E-4	0.07335	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.72	3.54	0.39650	0.247000	0.17953	-1.201000	0.06041	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.532:0.2067:0.0:0.2613	5.244	0.14803	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2079.33	33	chr6	132553519	.	A	C	2079.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.077;DP=791;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.474;SOR=0.55	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1459	18	0	1	0
chr6	132570483	132570483	G	A	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.G162A:p.M54I	.	415	1106	1	0	0	1	0.000451875	.	.	.	699315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.122	.	0.0005	0.0189696	0.0081	9.61e-05	0.0493	0.0424	0.0003	0.0003	0.0066	0.0013	0.0083958	1298	154602	rs117814299	0.0036	0.0036	0.0038	0.0033	0.0534	0.0035	0.0034	0.0516	0.0509	0.0005	0.0534	0.0004	0.0530	0.0004	0.0003	0.0002	0.0053	0.0015	0.0078	0.0078	0.0059	0.0098	0.0551	0.0074	0.0073	0.0520	0.0508	0.0006	0	0.0551	0	0.0508	0.0005	0	0.0004	0.0062	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.003225	0.35241	N	0.174826	0.978664	0.25233	N	-0.8	0.01622	N	-0.18	0.65747	T	0.54	0.02764	N	0.222	0.24883	-1.0093	0.27136	T	0.030	0.12935	T	10	0.0030700862	0.00051	T	.	.	.	0.122	0.33800	0.411	0.44723	.	.	0.05762654623584885	0.05703	0.00935334602833	0.00849	0.312084317207	0.12222	T	0.00733	0.06742	T	-0.507793	0.00517	T	-0.462709	0.26305	T	0.0068072023953674	0.00077	T	0.840116	0.51512	T	0.3281647	0.55320	0.24314171	0.49751	0.3281647	0.55320	0.24314171	0.49750	-2.805	0.08230	T	.	.	0.242	0.47676	B	.	.	0.912878	0.12875	9.385	0.49057936547433328	0.04145	0.34928	0.25183	N	AEFBI	0.140560	0.26250	N	-0.926042867319478	0.10235	0.4881766	-0.771356261045167	0.15198	0.7981296	0.0224501385965229	0.13431	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.99	4.12	0.47504	0.222000	0.17482	-2.092000	0.04225	0.656000	0.54149	0.013000	0.18845	0.000000	0.08366	0.245000	0.23132	0.0:0.2517:0.62:0.1283	10.386	0.43323	829	0.39537	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1659.33	34	chr6	132570483	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=910;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.03;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	18	0	1	0
chr6	132752672	132752672	C	A	exonic	VNN2	.	nonsynonymous SNV	VNN2:NM_004665:exon4:c.G615T:p.R205S,VNN2:NM_078488:exon5:c.G456T:p.R152S	.	429	1071	21	1	0	23	0.0106236	.	.	.	2820706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0073	0.00319489	0.0069	0.0013	0.0020	0	0.0119	0.0095	0.0121	0.0046	0.0064618	999	154602	rs34492437	0.0071	0.0071	0.0070	0.0071	0.0191	0.0069	0.0069	0.0162	0.0151	0.0010	0.0034	0.0014	5.038e-05	0.0114	0.0191	0.0076	0.0065	0.0056	0.0074	0.0074	0.0072	0.0075	0.0110	0.0070	0.0069	0.0104	0.0101	0.0012	0.0681	0.0061	0.0020	0.0002	0.0098	0.0205	0.0110	0.0071	0.0068	0.094	0.31383	T	0.047	0.48855	D	0.006	0.13644	B	0.038	0.23361	B	0.216035	0.16250	N	0.566459	0.887897	0.35888	D	2.08	0.57402	M	-2.53	0.89430	D	-1.96	0.48020	N	0.198	0.22228	-0.5628	0.66297	T	0.382	0.73862	T	10	0.00540179	0.00119	T	.	.	.	0.175	0.44197	0.659	0.79689	0.315609569513	0.31162	0.5131134951097541	0.51233	0.0249936575044	0.02547	0.261339426041	0.05051	T	0.052336	0.29133	T	-0.393427	0.02556	T	-0.32623	0.41887	T	0.0130324747353606	0.00227	T	0.29727	0.05521	T	0.13159433	0.30669	0.09166431	0.21561	0.13159433	0.30669	0.09166431	0.21561	-5.733	0.45144	T	.	.	0.222	0.45359	B	.;.	.;.	1.833391	0.23296	15.96	0.80822816348033655	0.13385	0.07561	0.13573	N	AEFBI	.	.	.	-0.766231500474358	0.14196	0.705232	-0.742657934725722	0.15902	0.8386894	0.999689238818324	0.41756	0.643511	0.44296	0	0.688494	0.66719	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	1.64	0.22949	-0.846000	0.04444	-0.084000	0.12141	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.410000	0.27006	0.0:0.5087:0.1296:0.3617	5.670	0.16989	904	0.23766	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase;.	.	.	.	.	rs34492437	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008152	0.014620	0.050000	0.034483	0.012195	0.015152	0.02632	2139.33	34	chr6	132752672	.	C	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=768;ExcessHet=0;FS=3.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.707;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	18	0	1	0
chr6	134918678	134918678	G	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon6:c.C1051A:p.P351T,ALDH8A1:NM_170771:exon6:c.C1039A:p.P347T,ALDH8A1:NM_022568:exon7:c.C1201A:p.P401T	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0714911742485	0.0041	0.00139776	0.0051	0.0002	0.0010	0	0.0020	0.0084	0.0011	0.0019	0.0049935	772	154602	rs61731731	0.0055	0.0055	0.0055	0.0054	0.0066	0.0054	0.0054	0.0065	0.0064	0.0007	0.0012	0.0007	0	0.0035	0.0026	0.0066	0.0043	0.0018	0.0036	0.0036	0.0038	0.0033	0.0065	0.0033	0.0032	0.0060	0.0058	0.0008	0	0.0010	0	0	0.0030	0	0.0065	0.0043	0.0015	0.032	0.72154	D	0.033	0.53072	D	0.604	0.39417	P	0.363	0.43280	B	0.000141	0.49741	D	0.242834	0.999986	0.54805	D	1.11	0.28643	L	-1.0	0.76037	T	-6.21	0.90411	D	0.252	0.36464	-0.5144	0.68124	T	0.224	0.58869	T	10	0.013618439	0.00288	T	0.071491	0.71283	D	0.298	0.61843	.	.	0.780379905589	0.77835	0.7644261845423829	0.76390	0.323159786011	0.34483	0.373488128185	0.21330	T	0.44226	0.78649	T	-0.288356	0.09801	T	-0.181993	0.56339	T	0.0731636617424543	0.09088	T	0.946005	0.95043	D	0.59032226	0.72169	0.6018954	0.76868	0.59032226	0.72170	0.6018954	0.76869	-4.149	0.26009	T	.	.	0.153	0.39664	B	.;.;.;.	.;.;.;.	2.783712	0.36570	20.3	0.99734951687566986	0.83047	0.85687	0.44847	D	ALL	0.518365	0.54409	D	0.0299642111254581	0.43221	2.619337	0.102168638742454	0.44660	2.743402	0.986586276959072	0.31089	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	2.85	0.32333	1.861000	0.39078	6.184000	0.54674	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0715:0.1674:0.7611:0.0	13.479	0.60777	870	0.31527	Aldehyde dehydrogenase domain;.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3003.33	33	chr6	134918678	.	G	T	3003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=876;ExcessHet=0;FS=9.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.969;SOR=0.952	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1337	18	0	1	0
chr6	134986122	134986122	G	A	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon10:c.C1241T:p.S414F,HBS1L:NM_006620:exon11:c.C1367T:p.S456F,HBS1L:NM_001363686:exon12:c.C875T:p.S292F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0715356323271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757e-06	3.42e-06	2.746e-06	2.769e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51248	D	0.036	0.53072	D	0.996	0.70673	D	0.973	0.72923	D	0.000000	0.84330	D	0.082384	0.999882	0.50402	D	2.925	0.84406	M	0.97	0.42502	T	-2.91	0.63669	D	0.314	0.38643	-0.4380	0.70797	T	0.240	0.60786	T	10	0.723108	0.73794	D	0.071536	0.71294	D	0.487	0.77528	0.711	0.84691	0.431327455105	0.42751	0.6512994224180267	0.65065	0.681404654842	0.60044	0.462738782167	0.33687	T	0.252598	0.62300	T	0.103358	0.64653	D	-0.0893092	0.64214	T	0.99257093667984	0.83089	D	0.963204	0.86559	D	0.5122044	0.67807	0.5179194	0.72147	0.5122044	0.67808	0.5179194	0.72147	-11.769	0.83787	D	.	.	0.469	0.69226	A	.;.;.;.;.	.;.;.;.;.	4.497949	0.70319	25.5	0.99771234585883672	0.85918	0.93803	0.59236	D	AEFBI	0.596772	0.59081	D	0.631400495504965	0.75171	6.258853	0.59785607422195	0.74785	6.196667	0.999689834518696	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	6.06	5.19	0.71428	5.520000	0.66794	8.692000	0.78080	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.4055:0.5945:0.0	15.861	0.78801	914	0.21048	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1012.33	34	chr6	134986122	.	G	A	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.095;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1090	18	0	1	0
chr6	134996868	134996868	T	G	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon6:c.A748C:p.M250L,HBS1L:NM_006620:exon7:c.A874C:p.M292L,HBS1L:NM_001363686:exon8:c.A382C:p.M128L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.024701962759	7.7e-05	.	1.651e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs376809373	4.796e-06	5.472e-06	4.09e-06	5.509e-06	2.262e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.262e-05	3.834e-05	0	0	0	4.5e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.116	0.38185	T	0.207	0.28860	T	0.988	0.62325	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.12	0.08593	N	-0.45	0.69896	T	-1.33	0.50012	N	0.581	0.65844	-0.4087	0.71752	T	0.215	0.57666	T	10	0.5515336	0.64283	D	0.024702	0.47687	T	0.525	0.79886	0.608	0.74063	0.501599654644	0.49796	0.7542403838174591	0.75371	0.15611858945	0.17621	0.822214007378	0.85368	D	0.07943	0.36125	T	0.167468	0.70891	D	0.0182661	0.71518	D	0.39722777205298	0.28838	T	0.933007	0.74900	D	0.26872414	0.49944	0.2648814	0.52314	0.26872414	0.49944	0.2648814	0.52313	-8.153	0.62108	D	.	.	0.267	0.63731	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.247527	0.64452	24.7	0.97587368363552651	0.34769	0.99252	0.93473	D	AEFBI	0.898643	0.84216	D	0.589842935872527	0.72541	5.82184	0.672637286246117	0.80308	7.269806	0.999999926689528	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.95	5.95	0.96415	7.971000	0.87616	7.856000	0.71202	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.429	0.83672	891	0.26808	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1803.33	33	chr6	134996868	.	T	G	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.36;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr6	137011414	137011414	C	T	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_001278722:exon3:c.G116A:p.R39K,IL20RA:NM_014432:exon3:c.G263A:p.R88K	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0109655966568	0.0022	0.00119808	0.0014	0.0003	0.0010	0	0.0002	0.0020	0.0022	0.0014	0.0014618	226	154602	rs142251595	0.0017	0.0017	0.0018	0.0017	0.0068	0.0017	0.0017	0.0051	0.0045	0.0003	0.0011	0.0003	2.521e-05	0.0003	0.0068	0.0020	0.0017	0.0013	0.0013	0.0013	0.0014	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0003	0	0.0008	0	0.0004	0.0005	0	0.0022	0.0033	0.0006	0.342	0.12837	T	0.366	0.18846	T	0.051	0.22415	B	0.027	0.21085	B	0.066002	0.21840	N	0.527775	1	0.81001	D	0.75	0.19020	N	-0.69	0.72678	T	-1.0	0.26422	N	0.172	0.20395	-1.0460	0.15534	T	0.089	0.34271	T	10	0.01442194	0.00303	T	0.010966	0.28104	T	0.042	0.11227	.	.	0.839978442642	0.83845	0.44083047820770976	0.44000	0.291786692998	0.31589	0.338182389736	0.16166	T	0.036	0.23820	T	-0.472692	0.00818	T	-0.456693	0.26959	T	0.00779212174290422	0.00091	T	0.539746	0.25622	T	0.29951292	0.52861	0.10247968	0.24562	0.29951292	0.52861	0.10247968	0.24562	-4.742	0.44004	T	.	.	0.084	0.14293	B	.;.;.	.;.;.	1.972301	0.25058	16.62	0.64612834454998458	0.07542	0.65132	0.32635	D	AEFGBI	0.195903	0.32291	N	-0.400155003582418	0.25465	1.382475	-0.238978032843875	0.30153	1.695316	0.987613519101907	0.31305	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.04	3.3	0.36912	0.390000	0.20494	0.608000	0.20000	0.599000	0.40250	0.997000	0.40164	0.838000	0.27274	0.983000	0.59808	0.0:0.7:0.1454:0.1546	6.878	0.23340	805	0.43675	.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003543	0.010101	0.001362	0.000000	0.000000	0.000000	0.003125	0.011364	0.02632	857.33	36	chr6	137011414	.	C	T	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=677;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.957;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	137017061	137017061	G	A	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_014432:exon2:c.C131T:p.T44I	.	430	1090	2	0	0	2	0.00091659	.	.	.	3444567	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0505545114386	.	.	6.606e-05	0	0	0	0	4.507e-05	0	0.0003	5.17e-05	8	154602	rs764221099	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0003	2.283e-05	2.033e-05	0.0002	0.0002	0	0	0	0	0	0.0003	1.17e-05	3.312e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.097	0.55341	T	0.968	0.56581	D	0.773	0.56974	P	0.021653	0.26791	N	0.431861	0.896877	0.81001	D	2.95	0.84923	M	-0.85	0.74371	T	-3.15	0.64132	D	0.329	0.36989	0.006	0.82373	D	0.488	0.80535	T	10	0.33502632	0.50667	T	0.050555	0.64291	D	0.522	0.79704	0.484	0.56621	0.909024170258	0.90811	0.3302338131611594	0.32936	0.876934820045	0.69612	0.603723585606	0.53429	T	0.183523	0.53589	T	-0.0613946	0.42688	T	-0.00399916	0.70076	D	0.631890416145325	0.37696	D	0.691931	0.37456	T	0.22421932	0.45060	0.22750956	0.47763	0.22421932	0.45060	0.22750956	0.47762	-8.075	0.61580	D	.	.	0.287	0.51942	B	.;.	.;.	3.245614	0.44319	21.9	0.9985534272446116	0.93458	0.74585	0.36490	D	AEFDBI	0.357539	0.44853	N	0.672783036335974	0.77849	6.754675	0.648935070736163	0.78531	6.895099	0.999999998851917	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	1.760000	0.38059	5.085000	0.47302	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.145	0.72323	791	0.46100	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	35	chr6	137017061	.	G	A	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.894;DP=708;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.207;SOR=0.385	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1403	18	0	1	0
chr6	137493372	137493372	A	G	exonic	OLIG3	.	nonsynonymous SNV	OLIG3:NM_175747:exon1:c.T799C:p.S267P	.	391	1116	14	1	0	16	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	.	0.0003	0.0325479	0.0247	0.0010	0.0011	0.1250	0.0053	0.0008	0.0286	0.0902	0.0127424	1970	154602	rs117770313	0.0064	0.0064	0.0051	0.0077	0.1023	0.0063	0.0062	0.0997	0.0986	0.0002	0.0003	0.0015	0.1023	0.0017	0.0033	0.0002	0.0073	0.0523	0.0056	0.0056	0.0041	0.0073	0.0958	0.0053	0.0052	0.0889	0.0861	0.0003	0	0.0014	0.0014	0.0958	0.0020	0	0.0003	0.0028	0.0573	0.011	0.55530	D	0.076	0.42614	T	0.165	0.28508	B	0.135	0.33210	B	0.003706	0.34585	N	0.240853	0.925684	0.27186	N	0.345	0.11182	N	-5.99	0.99477	D	-0.57	0.17210	N	0.086	0.06322	0.714	0.93343	D	0.872	0.95731	D	10	0.0013388693	0.00015	T	.	.	.	0.470	0.76421	.	.	.	.	0.485082664627966	0.48428	0.893088627956	0.70307	0.604440331459	0.53532	T	0.16931	0.51664	T	-0.247297	0.14432	T	-0.0505244	0.66986	D	0.0255475050810411	0.01344	T	0.667933	0.27701	T	0.33610493	0.55967	0.38507095	0.63432	0.33610493	0.55967	0.38507095	0.63432	-3.705	0.19392	T	.	.	0.115	0.22969	B	.	.	3.540999	0.49734	22.8	0.99466147207522992	0.66049	0.82117	0.41395	D	AEFDBHCIJ	0.429714	0.49272	N	-0.116038138549977	0.36693	2.124469	0.0600495938798157	0.42561	2.576358	0.999714682881368	0.42101	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.6	5.6	0.84997	0.284000	0.18624	9.210000	0.79232	0.733000	0.85838	0.620000	0.27914	1.000000	0.68203	0.994000	0.71098	0.7409:0.0:0.0:0.2591	9.089	0.35757	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008665	0.005435	0.001359	0.008772	0.000000	0.000000	0.006250	0.037879	0.02632	637.33	35	chr6	137493372	.	A	G	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=706;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.112;SOR=1.191	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	18	0	1	0
chr6	137874854	137874854	A	G	exonic	TNFAIP3	.	nonsynonymous SNV	TNFAIP3:NM_001270507:exon3:c.A305G:p.N102S,TNFAIP3:NM_001270508:exon3:c.A305G:p.N102S,TNFAIP3:NM_006290:exon3:c.A305G:p.N102S	Autoinflammatory syndrome, familial, Behcet-like, Autosomal dominant	415	1102	5	0	0	5	0.00226347	.	.	.	139069	Autoinflammatory_syndrome,_familial,_Behcet-like_1|not_provided|not_specified	MONDO:MONDO:0800045,MedGen:C4225218,OMIM:616744,Orphanet:476102,Orphanet:674762|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.491	.	0.0011	0.0129792	0.0107	0.0003	0.0603	0.0135	0.0015	0.0006	0.0055	0.0258	0.0102715	1588	154602	rs146534657	0.0043	0.0043	0.0038	0.0047	0.0614	0.0042	0.0041	0.0595	0.0587	0.0005	0.0614	0	0.0124	0.0021	0.0012	0.0004	0.0042	0.0248	0.0065	0.0065	0.0050	0.0081	0.0452	0.0062	0.0060	0.0424	0.0413	0.0008	0	0.0452	0	0.0126	0.0025	0.0034	0.0005	0.0062	0.0263	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.705	0.79137	M	1.25	0.36512	T	-4.75	0.80943	D	0.348	0.83473	-0.6429	0.63022	T	0.199	0.55442	T	10	0.015530705	0.00326	T	.	.	.	0.491	0.77783	.	.	.	.	0.7363864717433659	0.73583	0.905168708475	0.70807	0.605990409851	0.53751	T	0.508181	0.82558	D	-0.343102	0.05177	T	-0.217723	0.52957	T	0.059051813365513	0.07018	T	0.944006	0.84807	D	0.83857834	0.86507	0.8019494	0.88392	0.9072595	0.92042	0.8019494	0.88393	-10.953	0.79400	D	0.6517406745526113	0.72398	0.595	0.74346	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.430318	0.68699	25.3	0.99895679879598609	0.96895	0.96843	0.71240	D	AEFDBCI	0.859172	0.77680	D	0.899868931337003	0.91751	11.04629	0.873017492571196	0.94287	12.64407	0.999999999999973	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.662433	0.64102	0	.	.	5.97	5.97	0.96935	8.336000	0.89943	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	15.007	0.71180	940	0.13648	OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain;OTU domain|OTU domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015152	0.02632	578.33	40	chr6	137874854	.	A	G	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.019;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.743;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr6	138107232	138107248	GCAACCAGCCGCGGCCG	-	exonic	PERP	.	frameshift deletion	PERP:NM_022121:exon1:c.93_109del:p.G32Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2216.29	34	chr6	138107231	.	TGCAACCAGCCGCGGCCG	T	2216.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=766;ExcessHet=0;FS=3.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.199;SOR=0.992	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	18	0	1	0
chr6	138430880	138430880	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G3477T:p.E1159D,NHSL1:NM_001144060:exon6:c.G3465T:p.E1155D	.	423	1098	1	0	0	1	0.000455166	.	.	.	3994346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.033522833198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207830849	7.863e-06	7.524e-06	8.462e-06	7.246e-06	9.269e-06	4.22e-06	3.08e-06	4.69e-06	3.42e-06	0	0	0	0	0	0	9.269e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.44358	D	0.433	0.14075	T	0.991	0.64070	D	0.801	0.58220	P	0.245910	0.15612	N	0.572575	0.999252	0.21449	N	2.485	0.72352	M	0.71	0.51228	T	-1.67	0.39887	N	0.025	0.02366	-0.9956	0.31136	T	0.122	0.42378	T	10	0.11917323	0.22547	T	0.033523	0.55044	D	0.089	0.25827	0.15	0.05339	0.0551355673512	0.04727	0.1217163071605	0.12098	.	.	0.47269308567	0.35050	T	0.007659	0.07052	T	-0.249554	0.14152	T	-0.580757	0.14478	T	0.252876456004054	0.23001	T	0.680232	0.28883	T	0.13434438	0.31216	0.11172562	0.26952	0.13434438	0.31216	0.11172562	0.26951	-3.887	0.22107	T	.	.	0.176	0.38516	B	.;.	.;.	2.035830	0.25873	16.92	0.98450445329992065	0.41620	0.92056	0.54847	D	AEFDBHIJ	0.222482	0.34697	N	-0.102452197503099	0.37285	2.167077	-0.12731522435682	0.34294	1.971012	0.999999010463499	0.74766	0.706548	0.73137	0	0.54472	0.11627	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	1.074000	0.30315	7.531000	0.59918	0.599000	0.40250	0.264000	0.24988	1.000000	0.68203	0.091000	0.17840	0.0:1.0:0.0:0.0	15.660	0.76937	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1804.33	40	chr6	138430880	.	C	A	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=763;ExcessHet=0;FS=2.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.541;SOR=0.952	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	18	0	1	0
chr6	138432919	138432919	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1438A:p.A480T,NHSL1:NM_001144060:exon6:c.G1426A:p.A476T	.	427	1058	36	1	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0074	0.00539137	0.0102	0.0009	0.0025	0	0.0037	0.0107	0.0083	0.0147	0.0031177	482	154602	rs150185209	0.0099	0.0094	0.0096	0.0101	0.0143	0.0097	0.0097	0.0136	0.0133	0.0021	0.0067	0.0112	2.798e-05	0.0034	0.0125	0.0104	0.0101	0.0143	0.0068	0.0068	0.0074	0.0061	0.0110	0.0064	0.0063	0.0099	0.0096	0.0019	0.0022	0.0064	0.0115	0	0.0015	0.0034	0.0105	0.0128	0.0110	0.38	0.13349	T	0.413	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.867846	0.07157	N	1.059210	1	0.08975	N	0	0.06538	N	1.28	0.35960	T	0.15	0.05310	N	0.043	0.04913	-1.0299	0.20487	T	0.007	0.02439	T	10	0.0028977394	0.00046	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0740470037905874	0.07341	.	.	0.252881109715	0.04077	T	0.003267	0.02667	T	-0.711784	0.00031	T	-0.783529	0.02348	T	0.00590756167066298	0.00065	T	0.256474	0.04006	T	0.023594005	0.01112	0.031968772	0.01862	0.023594005	0.01112	0.031968772	0.01862	-3.324	0.14537	T	.	.	0.068	0.02927	B	.;.	.;.	-1.418430	0.00347	0.006	0.76993707213963181	0.11693	0.02514	0.07011	N	AEFDBI	0.039203	0.05662	N	-2.21372838507277	0.00071	0.003053304	-2.28566539880462	0.00071	0.003139627	0.999999979122478	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-9.77	0.00416	-1.424000	0.02554	-2.938000	0.03211	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.296:0.0896:0.2469:0.3675	1.197	0.01763	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007371	0.000000	0.016949	0.004545	0.000000	0.000000	0.005882	0.034091	0.02632	1350.33	58	chr6	138432919	.	C	T	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.085;DP=1308;ExcessHet=0;FS=4.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.453;SOR=0.733	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr6	138433075	138433075	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1282T:p.V428F,NHSL1:NM_001144060:exon6:c.G1270T:p.V424F	.	431	1088	3	0	0	3	0.00137678	.	.	.	2333944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0224671025251	0.0009	.	0.0009	0	0	0	0	0.0018	0	0.0004	0.0001423	22	154602	rs368681633	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0004	0.0006	0.0005	9.495e-05	5.602e-05	0.0039	0	8.178e-05	0.0004	0.0005	0.0006	0.0007	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0003	2.413e-05	0	0	0.0032	0	0	0	0.0005	0.0010	0.0008	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.816	0.58888	P	0.000722	0.42129	D	0.203392	0.998013	0.44417	D	2.645	0.77386	M	0.51	0.55439	T	-3.21	0.64826	D	0.389	0.43029	-0.9449	0.41830	T	0.119	0.41756	T	10	0.009385288	0.00212	T	0.022467	0.45362	T	0.198	0.48105	.	.	0.137902524267	0.13322	0.6067846774546931	0.60609	.	.	0.318435847759	0.13183	T	0.100423	0.40620	T	-0.198697	0.20993	T	-0.156748	0.58642	T	0.0963143309992381	0.11946	T	0.940606	0.77652	D	0.32580504	0.55125	0.21169882	0.45609	0.32580504	0.55125	0.21169882	0.45608	-7.363	0.56643	T	.	.	0.203	0.42820	B	.;.	.;.	1.103420	0.14878	11.41	0.99530116492459209	0.69839	0.87654	0.47265	D	AEFDBI	0.440250	0.49889	N	-0.0809996902345697	0.38226	2.235628	-0.242533547561968	0.30030	1.687324	0.999265695210011	0.38940	0.706548	0.73137	0	0.446627	0.06534	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.17	0.143	0.14116	0.544000	0.22960	0.018000	0.13546	0.599000	0.40250	0.839000	0.30269	0.064000	0.22093	0.425000	0.27339	0.0:0.6182:0.1151:0.2666	6.890	0.23407	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4825.81	58	chr6	138433075	.	C	A	4825.81	.	AC=2;AF=0.053;AN=38;DP=1427;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.39;SOR=0.762	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	1	0	0
chr6	138433578	138433578	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G779A:p.R260H,NHSL1:NM_001144060:exon6:c.G767A:p.R256H	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	0.0004	0.00978435	0.0037	0	0.0024	0.0605	0.0024	0.0009	0.0121	0.0037	0.0010349	160	154602	rs76776064	0.0020	0.0019	0.0019	0.0021	0.0545	0.0019	0.0019	0.0525	0.0516	3.165e-05	0.0002	0.0002	0.0545	0.0036	0.0007	0.0002	0.0026	0.0027	0.0024	0.0024	0.0021	0.0026	0.0491	0.0022	0.0021	0.0442	0.0422	2.408e-05	0	0.0009	0	0.0491	0.0027	0.0034	0.0005	0.0028	0.0041	0.223	0.23905	T	0.179	0.30828	T	0.391	0.34615	B	0.054	0.25828	B	0.002221	0.37012	N	0.307389	0.586373	0.31057	N	2.7	0.79018	M	1.04	0.40218	T	-2.88	0.63438	D	0.085	0.06854	-1.0373	0.18140	T	0.020	0.08407	T	10	0.001934737	0.00027	T	.	.	.	0.076	0.22200	.	.	0.0611884634855	0.05136	0.17434372000754764	0.17353	.	.	0.267888396978	0.05867	T	0.034071	0.23173	T	-0.476781	0.00773	T	-0.412849	0.31897	T	0.0722458050119815	0.08962	T	0.89771	0.64303	D	0.08468387	0.19612	0.06972719	0.14728	0.08468387	0.19612	0.06972719	0.14727	-3.67	0.18876	T	.	.	0.068	0.03301	B	.;.;.	.;.;.	3.282820	0.44983	22.0	0.99481581766458882	0.66904	0.85984	0.45184	D	AEFDBI	0.277166	0.39174	N	-0.239150237329321	0.31538	1.769473	-0.0885354507006966	0.35862	2.079932	0.999899522354329	0.45129	0.732398	0.92422	0	0.446627	0.06534	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	4.09	0.47038	1.378000	0.33935	1.121000	0.24244	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.1516:0.6913:0.0:0.1571	6.077	0.19145	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2551.33	45	chr6	138433578	.	C	T	2551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.6;DP=1088;ExcessHet=0;FS=1.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.405;SOR=0.789	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	18	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S,NHSL1:NM_020464:exon3:c.C436T:p.P146S	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009174	0.015957	0.006173	0.000000	0.000000	0.045455	0.027778	0.000000	0.02632	1665.33	36	chr6	138473353	.	G	A	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=793;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.004;SOR=1.066	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	18	0	1	0
chr6	138912809	138912809	C	T	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon13:c.G1654A:p.D552N,REPS1:NM_001128617:exon15:c.G1846A:p.D616N,REPS1:NM_001286611:exon16:c.G1927A:p.D643N,REPS1:NM_031922:exon16:c.G1924A:p.D642N	.	439	1063	18	2	0	22	0.0102421	.	.	.	626157	Neurodegeneration_with_brain_iron_accumulation_7|not_specified|not_provided	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.00584594839477	0.0008	0.000399361	0.0010	0.0002	0.0008	0	0	0.0013	0.0044	0.0015	0.0009379	145	154602	rs140387177	0.0009	0.0009	0.0008	0.0010	0.0208	0.0008	0.0008	0.0178	0.0166	0.0011	0.0008	0.0020	0	0	0.0208	0.0007	0.0021	0.0017	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0026	0	0	0.0238	0.0006	0.0043	0.0012	0.005	0.63226	D	0.271	0.22291	T	0.059	0.64738	B	0.005	0.52463	B	0.000880	0.41335	D	0.270973	0.62933	0.32775	D	0	0.06538	N	1.46	0.32482	T	-0.39	0.13805	N	0.308	0.34767	-1.0977	0.04380	T	0.036	0.15465	T	10	0.010942996	0.00241	T	0.005846	0.15191	T	0.134	0.36365	.	.	0.360112713275	0.35619	0.11333632972681876	0.11261	0.249247192868	0.27497	0.488500058651	0.37230	T	0.010284	0.16191	T	-0.586622	0.00176	T	-0.628649	0.10516	T	0.0270770312247092	0.01555	T	0.948305	0.80045	D	0.09572074	0.22533	0.06060335	0.11566	0.112206236	0.26509	0.06677537	0.13724	-3.428	0.16361	T	0.10115356141937344	0.07544	0.082	0.18122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.819928	0.78497	26.9	0.99854476823934191	0.93368	0.96974	0.71966	D	AEFBI	0.663323	0.63288	D	0.0659778328615646	0.44882	2.75418	0.282463158926441	0.54516	3.616317	0.999929269205257	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	4.965000	0.63418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9239:0.0:0.0761	14.220	0.65367	919	0.19497	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.010870	0.020468	0.000000	0.017241	0.003049	0.000000	0.05263	3761.83	34	chr6	138912809	.	C	T	3761.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.511;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.598;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	17	0	2	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.010870	0.017544	0.000000	0.043103	0.009146	0.018939	0.02632	1020.33	68	chr6	139242800	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.083;SOR=0.746	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr6	139260350	139260350	C	G	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon6:c.G970C:p.A324P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0689146906835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414e-05	0.0014	2.335e-05	2.493e-05	2.905e-05	1.753e-05	1.551e-05	2.102e-05	1.799e-05	0	0	0	0	0	0	2.905e-05	5.001e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	1.0	0.90584	D	0.993	0.81110	D	0.000161	0.48594	D	0.239684	0.993403	0.41929	D	2.87	0.83286	M	1.4	0.33630	T	-3.94	0.73378	D	0.574	0.59648	-0.7017	0.60357	T	0.226	0.59007	T	9	0.5885002	0.66246	D	0.068915	0.70584	D	0.180	0.45073	0.379	0.39482	0.487843537783	0.48417	0.6358683035212012	0.63520	0.487470984321	0.47571	0.614733815193	0.54985	T	0.130152	0.45887	T	-0.0622442	0.42556	T	-0.327186	0.41782	T	0.988551318645477	0.78871	D	0.954105	0.82551	D	0.80467975	0.84206	0.7539932	0.85461	0.80467975	0.84208	0.7539932	0.85462	-11.507	0.82367	D	.	.	0.992	0.94200	P	.	.	4.344429	0.66670	25.0	0.99736542846510523	0.83192	0.92875	0.56761	D	AEFBI	0.833676	0.75185	D	0.181533041624392	0.50311	3.222455	0.199449637892681	0.49817	3.180493	0.00178874494565809	0.08881	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.81	0.43020	2.013000	0.40561	4.856000	0.45423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.137:0.7928:0.0:0.0702	10.209	0.42307	536	0.73233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	42.72	33	chr6	139260350	.	C	G	42.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.256;DP=843;ExcessHet=0;FS=175.727;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.4;SOR=7.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	17	0	1	1
chr6	142078770	142078770	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon2:c.C112T:p.R38C,NMBR:NM_001324307:exon3:c.C112T:p.R38C,NMBR:NM_002511:exon3:c.C556T:p.R186C	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0464146025495	.	0.000399361	0.0002	0	0	0	0	5.994e-05	0	0.0015	0.0002264	35	154602	rs201727010	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	4.472e-05	3.826e-05	0	0	0.0009	4.946e-05	9.934e-05	0.0017	8.554e-05	9.19e-05	9.008e-05	8.079e-05	0.0017	4.964e-05	3.968e-05	0.0008	0.0006	0	0	0	0	0	0	0	7.354e-05	0	0.0017	0.06	0.37326	T	0.065	0.44702	T	0.844	0.46645	P	0.289	0.40655	B	0.006696	0.31864	N	0.379009	0.917678	0.36586	D	0.845	0.21182	L	-0.69	0.72678	T	-1.47	0.35991	N	0.206	0.22870	-0.5419	0.67092	T	0.223	0.58691	T	10	0.031638324	0.01302	T	0.046415	0.62447	D	0.245	0.55201	0.575	0.69957	0.812200311944	0.81043	0.706178303002584	0.70559	0.202610235331	0.22681	0.204787328839	0.00609	T	0.130665	0.45970	T	-0.385988	0.02855	T	-0.3573	0.38366	T	0.123414872814463	0.14760	T	0.286771	0.05140	T	0.10188241	0.24070	0.09146061	0.21505	0.10188241	0.24070	0.09146061	0.21504	-6.921	0.53455	T	.	.	0.270	0.50444	B	.	.	1.781060	0.22647	15.70	0.99761031893154928	0.85091	0.54967	0.29746	D	AEFBI	0.525424	0.54820	D	-0.028229250646847	0.40579	2.412321	-0.0949925348317143	0.35597	2.061341	0.994750238438243	0.33785	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	3.010000	0.49246	2.467000	0.32880	-0.171000	0.11205	0.303000	0.25352	0.130000	0.22991	0.003000	0.05239	0.0:0.0:1.0:0.0	19.320	0.94221	928	0.17405	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2964.33	33	chr6	142078770	.	G	A	2964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=849;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.463;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1237	18	0	1	0
chr6	142309626	142309626	A	G	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon2:c.A85G:p.M29V,ADGRG6:NM_001032395:exon2:c.A85G:p.M29V,ADGRG6:NM_020455:exon2:c.A85G:p.M29V,ADGRG6:NM_198569:exon2:c.A85G:p.M29V	Lethal congenital contracture syndrome 9, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	735439	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00945157521299	0.0005	0.000399361	0.0010	0.0005	0.0022	0.0002	0	0.0014	0	0.0005	0.0006404	99	154602	rs145672534	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0025	0.0002	0.0011	3.871e-05	5.072e-05	5.663e-05	0.0042	0.0007	0.0006	0.0003	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0010	0	0	0	0.0034	0.0009	0.0010	0.0004	0.806	0.03857	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.927554	0.08444	N	0.963043	1	0.08975	N	.	.	.	1.98	0.21865	T	0.19	0.08809	N	0.086	0.11197	-0.9132	0.46454	T	0.006	0.02018	T	10	0.0064124167	0.00145	T	0.009452	0.24763	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.3870688691912296	0.38621	0.117208668594	0.13211	0.319220602512	0.13303	T	0.084815	0.37361	T	-0.539746	0.00336	T	-0.604432	0.12442	T	0.00299577336417023	0.00031	T	0.616038	0.24021	T	0.044315554	0.07063	0.05148791	0.08297	0.03727107	0.04745	0.052634798	0.08710	-1.744	0.02372	T	.	.	0.049	0.08512	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.491725	0.01894	0.156	0.49216491857603062	0.04172	0.00916	0.03571	N	AEFDBI	0.044874	0.07272	N	-1.2025787185517	0.04962	0.2251297	-1.15000018414291	0.06767	0.3268971	0.999610692698905	0.40981	0.627647	0.40530	0	0.573888	0.26702	0	0.653264	0.51672	0	0.657601	0.63696	0	.	.	5.66	0.716	0.17347	0.079000	0.14636	-0.135000	0.11577	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6143:0.0:0.3857:0.0	6.930	0.23617	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.001359	0.002924	0.050000	0.000000	0.000000	0.003788	0.02632	1315.33	42	chr6	142309626	.	A	G	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.909;DP=744;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.794;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr6	142415911	142415911	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon19:c.C2701T:p.L901F,ADGRG6:NM_001032395:exon19:c.C2701T:p.L901F,ADGRG6:NM_020455:exon20:c.C2785T:p.L929F,ADGRG6:NM_198569:exon20:c.C2785T:p.L929F	Lethal congenital contracture syndrome 9, Autosomal recessive	429	1063	28	2	0	32	0.0148285	.	.	.	710216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.382	.	0.0013	0.00439297	0.0030	0.0001	0.0015	0	0	0.0022	0.0078	0.0116	0.0028525	441	154602	rs186655757	0.0020	0.0020	0.0017	0.0023	0.0127	0.0019	0.0019	0.0103	0.0098	0.0004	0.0020	0.0002	0	0.0002	0.0127	0.0014	0.0028	0.0106	0.0019	0.0019	0.0015	0.0023	0.0110	0.0017	0.0016	0.0086	0.0078	0.0003	0.0011	0.0054	0.0006	0	9.429e-05	0.0068	0.0017	0.0066	0.0110	0.038	0.44029	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	-3.71	0.70674	D	0.491	0.53006	-0.6123	0.64308	T	0.251	0.62108	T	10	0.020136267	0.00459	T	.	.	.	0.382	0.69946	.	.	0.439551795455	0.43578	0.6790257753278311	0.67841	0.582222379871	0.53986	0.513044834137	0.40648	T	0.371903	0.73618	T	-0.105586	0.35500	T	0.0849509	0.75908	D	0.0733345355968421	0.09111	T	0.79622	0.44234	T	0.23291788	0.46088	0.26195386	0.51980	0.2693197	0.50004	0.29664806	0.55697	-7.675	0.59049	D	.	.	0.202	0.42606	B	.;.;.;.	.;.;.;.	2.723302	0.35625	19.95	0.99877375110024558	0.95410	0.97492	0.75099	D	AEFBI	0.851761	0.76863	D	0.64390101101507	0.75975	6.401847	0.553391529432174	0.71634	5.684729	1.0	0.98316	0.730579	0.87903	0	0.573888	0.26702	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	3.889000	0.55925	2.715000	0.34266	-0.175000	0.10903	0.998000	0.41325	0.993000	0.31925	0.229000	0.22707	0.0:1.0:0.0:0.0	19.524	0.95191	720	0.55521	GPCR, family 2-like;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.017663	0.008772	0.000000	0.000000	0.042683	0.007576	0.02632	1190.33	35	chr6	142415911	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.789;DP=743;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.24;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr6	142770955	142770955	C	T	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.G3784A:p.E1262K	Mental retardation, autosomal dominant 43, Autosomal dominant	6	1510	5	1	0	7	0.00231252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00380517604827	.	.	5.796e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs777009595	3.01e-05	3.01e-05	9.528e-06	5.088e-05	0.0005	2.281e-05	2.032e-05	0.0003	0.0003	0	0	0	0	0	0.0005	8.993e-07	0	0.0005	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.056	0.38185	T	0.132	0.34477	T	0.002	0.09854	B	0.002	0.06944	B	0.077163	0.21120	N	0.559004	0.83338	0.34953	D	0.975	0.24501	L	4.33	0.02363	T	-0.95	0.25332	N	0.237	0.28381	-0.9745	0.36235	T	0.006	0.01944	T	10	0.06292069	0.08118	T	0.003805	0.08868	T	0.073	0.21317	0.331	0.31681	0.043077524339	0.03247	0.10957832459005765	0.10886	0.248847636527	0.27451	0.442270308733	0.30888	T	0.143554	0.47972	T	-0.395657	0.02472	T	-0.463379	0.26232	T	0.0571714725257813	0.06717	T	0.90401	0.66351	D	0.070424296	0.15511	0.067180105	0.13863	0.070424296	0.15511	0.067180105	0.13862	-4.522	0.31175	T	0.4907915641266759	0.56773	0.123	0.26106	B	.;.;.	.;.;.	2.792684	0.36715	20.3	0.98918255882678041	0.48509	0.83992	0.43080	D	AEFDBHCI	0.127527	0.24493	N	-0.251596692818822	0.31040	1.736588	-0.161852741341197	0.32955	1.880084	0.999998687991888	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.97	5.11	0.69188	2.503000	0.45067	5.935000	0.51384	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.267000	0.23694	0.0:0.9324:0.0:0.0676	15.110	0.72020	514	0.74853	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3742.33	41	chr6	142770955	.	C	T	3742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=1069;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.578;SOR=0.863	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr6	143765615	143765615	C	G	exonic	PHACTR2	.	nonsynonymous SNV	PHACTR2:NM_001100165:exon5:c.C809G:p.P270R,PHACTR2:NM_001100166:exon5:c.C776G:p.P259R,PHACTR2:NM_001100164:exon6:c.C1049G:p.P350R,PHACTR2:NM_014721:exon6:c.C1016G:p.P339R	.	413	1101	7	1	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0107908060015	0.0003	0.000599042	0.0007	0	8.646e-05	0	0	0.0003	0.0045	0.0039	0.0006015	93	154602	rs200996920	0.0003	0.0003	0.0002	0.0005	0.0038	0.0003	0.0003	0.0034	0.0033	5.974e-05	6.708e-05	0	2.519e-05	0	0.0010	0.0001	0.0004	0.0038	0.0003	0.0003	0.0002	0.0005	0.0062	0.0002	0.0002	0.0045	0.0039	2.405e-05	0	0.0002	0	0	0	0	0.0002	0	0.0062	0.036	0.56456	D	0.09	0.40267	T	0.119	0.29346	B	0.037	0.31211	B	0.733651	0.06385	N	1.124900	1	0.08975	N	1.59	0.40313	L	1.4	0.33630	T	-3.93	0.73267	D	0.176	0.24010	-0.9666	0.37894	T	0.036	0.15334	T	10	0.006910652	0.00157	T	0.010791	0.27726	T	0.016	0.02506	.	.	0.323886383625	0.31992	0.2961984260644039	0.29532	0.110288334965	0.12446	0.223348975182	0.01512	T	0.127875	0.45517	T	-0.532693	0.00370	T	-0.539426	0.18352	T	0.0252067859385197	0.01299	T	0.789921	0.43036	T	0.095096566	0.22372	0.10002162	0.23900	0.095096566	0.22372	0.10002162	0.23900	-6.369	0.49642	T	.	.	0.095	0.15564	B	.;.;.;.;.	.;.;.;.;.	0.352972	0.07262	3.862	0.81900478573249891	0.13917	0.25764	0.22796	N	AEFBI	0.106478	0.21243	N	-0.867715413412455	0.11616	0.5615743	-0.911094429465205	0.11832	0.6051939	0.191413385647341	0.18005	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	2.41	0.28644	1.212000	0.31999	0.607000	0.19990	-0.187000	0.09635	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1414:0.6141:0.0:0.2445	5.338	0.15276	748	0.52143	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1839.33	47	chr6	143765615	.	C	G	1839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.164;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.226;SOR=0.727	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	143898606	143898606	G	A	exonic	ZC2HC1B	.	nonsynonymous SNV	ZC2HC1B:NM_001013623:exon5:c.G404A:p.R135Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	2359469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0371294471446	.	0.000199681	0.0002	0.0005	0	0	0	0.0002	0	0.0001	5.82e-05	9	154602	rs200112987	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	9.494e-05	0.0003	3.971e-05	2.798e-05	0	0.0021	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.234e-05	0.0001	9.898e-05	7.22e-05	0	0.0002	0	0	0	0	0.0002	0.0014	0.0002	0.038	0.42783	D	0.025	0.56192	D	0.843	0.46605	P	0.11	0.31460	B	0.051097	0.23013	N	0.293222	0.998896	0.21818	N	3.08	0.87267	M	0.13	0.60973	T	-3.87	0.72594	D	0.235	0.26475	-0.9398	0.42648	T	0.124	0.42799	T	10	0.07368907	0.11168	T	0.037129	0.57424	D	0.152	0.39956	.	.	0.101711395817	0.09552	0.4468483238709342	0.44602	.	.	0.339459717274	0.16358	T	0.378091	0.74113	T	-0.265961	0.12211	T	-0.335097	0.40900	T	0.227638185024261	0.21839	T	0.929607	0.73996	D	0.18748301	0.40204	0.20988607	0.45352	0.18748301	0.40203	0.20988607	0.45351	-12.826	0.88633	D	.	.	0.107	0.19998	B	.	.	3.541760	0.49744	22.8	0.99738465383548669	0.83337	0.50213	0.28611	D	AEFDBI	0.129592	0.24783	N	-0.135707941423062	0.35845	2.064132	-0.199481894827304	0.31556	1.786959	0.0018897549219239	0.08975	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.19	3.41	0.38145	3.139000	0.50273	5.181000	0.47864	0.671000	0.69459	0.899000	0.31403	0.998000	0.33993	0.671000	0.33280	0.1557:0.0:0.8443:0.0	11.001	0.46817	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002500	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	99	chr6	143898606	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=721;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.563;SOR=0.929	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	143942395	143942395	C	A	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.G421T:p.A141S,PLAGL1:NM_001317158:exon3:c.G265T:p.A89S,PLAGL1:NM_001289038:exon4:c.G265T:p.A89S,PLAGL1:NM_001289047:exon4:c.G421T:p.A141S,PLAGL1:NM_001317156:exon4:c.G421T:p.A141S,PLAGL1:NM_001289037:exon5:c.G265T:p.A89S,PLAGL1:NM_001289039:exon5:c.G265T:p.A89S,PLAGL1:NM_001289042:exon5:c.G421T:p.A141S,PLAGL1:NM_001080955:exon6:c.G265T:p.A89S,PLAGL1:NM_001080956:exon6:c.G265T:p.A89S,PLAGL1:NM_001289040:exon6:c.G265T:p.A89S,PLAGL1:NM_001289041:exon6:c.G265T:p.A89S,PLAGL1:NM_001289044:exon6:c.G421T:p.A141S,PLAGL1:NM_001289049:exon6:c.G421T:p.A141S,PLAGL1:NM_001317160:exon6:c.G265T:p.A89S,PLAGL1:NM_001080952:exon7:c.G421T:p.A141S,PLAGL1:NM_001080953:exon7:c.G421T:p.A141S,PLAGL1:NM_001080954:exon7:c.G421T:p.A141S,PLAGL1:NM_001289043:exon7:c.G421T:p.A141S,PLAGL1:NM_001289045:exon7:c.G421T:p.A141S,PLAGL1:NM_001289048:exon7:c.G421T:p.A141S,PLAGL1:NM_001317161:exon7:c.G421T:p.A141S,PLAGL1:NM_006718:exon7:c.G421T:p.A141S,PLAGL1:NM_001080951:exon8:c.G421T:p.A141S,PLAGL1:NM_001317159:exon8:c.G421T:p.A141S,PLAGL1:NM_001317162:exon8:c.G421T:p.A141S,PLAGL1:NM_001289046:exon9:c.G421T:p.A141S	.	417	1097	8	0	0	8	0.00363306	.	.	.	710232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.00998403	0.0046	0.0002	0.0039	0.0336	0.0002	0.0001	0.0011	0.0127	0.0042237	653	154602	rs17847327	0.0018	0.0018	0.0016	0.0021	0.0296	0.0018	0.0017	0.0282	0.0276	5.974e-05	0.0040	0.0002	0.0296	0	0.0009	2.878e-05	0.0028	0.0126	0.0019	0.0019	0.0015	0.0024	0.0328	0.0017	0.0016	0.0287	0.0272	7.222e-05	0	0.0026	0	0.0328	0	0	1.47e-05	0.0028	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.212798	0.16324	N	0.606267	1	0.08975	N	-0.145	0.04423	N	2.99	0.09262	T	-0.28	0.11547	N	0.031	0.00770	-0.9617	0.38858	T	0.002	0.00676	T	10	0.0027655065	0.00043	T	.	.	.	0.023	0.04649	.	.	0.165150595986	0.16160	0.16814240285216853	0.16734	0.322862320252	0.34462	0.39057919383	0.23751	T	0.096559	0.39850	T	-0.736657	0.00022	T	-0.80307	0.01826	T	0.00487929766389295	0.00052	T	0.750125	0.38363	T	0.021035649	0.00686	0.032434568	0.01978	0.021035649	0.00685	0.032434568	0.01978	-1.853	0.02672	T	.	.	0.113	0.22391	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.014078	0.04381	1.131	0.71831194620010763	0.09763	0.19353	0.20627	N	ALL	0.165891	0.29243	N	-1.42174047965092	0.02448	0.1081321	-1.27659705703184	0.04748	0.2247122	0.999999999999874	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	6.17	-2.91	0.05294	0.647000	0.24500	-0.081000	0.12176	-0.820000	0.02968	0.965000	0.33920	0.000000	0.08366	0.933000	0.47100	0.4347:0.3529:0.0:0.2124	6.596	0.21864	875	0.30485	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.018939	0.02632	1387.33	42	chr6	143942395	.	C	A	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.211;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	18	0	1	0
chr6	144523181	144523181	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon40:c.C5899T:p.R1967W	.	.	.	.	.	.	.	.	.	.	.	699355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.344	.	0.0042	0.0061901	0.0019	0.0159	0.0016	0.0004	0	0.0006	0	0.0001	0.0018111	280	154602	rs116699477	0.0007	0.0008	0.0008	0.0007	0.0157	0.0007	0.0007	0.0146	0.0141	0.0157	0.0015	0.0019	0.0002	0	0.0058	0.0002	0.0022	8.747e-05	0.0039	0.0039	0.0040	0.0038	0.0117	0.0036	0.0035	0.0109	0.0105	0.0117	0	0.0041	0.0009	0	9.517e-05	0.0034	0.0004	0.0043	0.0002	0.102	0.30235	T	.	.	.	0.999	0.77913	D	0.847	0.60522	P	0.001778	0.38052	N	0.119448	0.731241	0.29827	N	2.81	0.81869	M	0.74	0.50459	T	-4.66	0.79482	D	0.718	0.72031	-0.6574	0.62390	T	0.189	0.54049	T	10	0.0100955665	0.00226	T	.	.	.	0.344	0.66582	.	.	0.660119374745	0.65727	0.723227243028159	0.72266	0.403431276575	0.41280	0.2094848454	0.00789	T	0.882503	0.97548	D	-0.383934	0.02942	T	-0.311298	0.43518	T	0.0440621895734125	0.04432	T	0.950305	0.80969	D	0.85572344	0.87761	0.6843385	0.81442	0.85572344	0.87763	0.6843385	0.81443	-7.967	0.60845	D	.	.	0.142	0.31228	B	.	.	3.985529	0.58615	24.0	0.99882398185698418	0.95813	0.93129	0.57402	D	AEFBI	0.497445	0.53196	N	0.468083015213101	0.65238	4.797219	0.408363308225867	0.62084	4.418161	0.246335925743857	0.18630	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	4.01	0.45821	1.944000	0.39890	1.684000	0.28029	0.549000	0.26987	0.991000	0.37257	0.894000	0.27871	0.626000	0.32052	0.0:0.8671:0.0:0.1329	13.040	0.58301	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.010101	0.021739	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	783.33	36	chr6	144523181	.	C	T	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=1.49;SOR=0.819	GT:AD:DP:GQ:PL	0/0:37,0:37:81:0,81,1215	18	0	1	0
chr6	144789225	144789225	C	A	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_001375323:exon12:c.C1531A:p.L511M,UTRN:NM_007124:exon61:c.C8866A:p.L2956M	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.010448754354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.42487	T	0.09	0.40267	T	0.786	0.44460	P	0.688	0.53700	P	0.000885	0.41231	D	0.000000	0.56591	0.32848	D	0.55	0.14455	N	-0.31	0.68030	T	-0.14	0.09627	N	0.408	0.46649	-0.6659	0.62013	T	0.172	0.51357	T	10	0.33840248	0.50945	T	0.010449	0.27001	T	0.227	0.52620	0.574	0.69826	0.541285430251	0.53781	0.27061202305502524	0.26974	0.554264953898	0.52173	0.714693367481	0.69273	T	0.181103	0.53266	T	-0.0454324	0.45139	T	-0.303037	0.44404	T	0.752389550209045	0.43418	D	0.877312	0.59062	D	0.15193494	0.34515	0.087911874	0.20466	0.15193494	0.34514	0.087911874	0.20465	-5.214	0.39084	T	.	.	0.102	0.17953	B	.;.	.;.	2.722984	0.35625	19.95	0.98983979506833752	0.49800	0.84725	0.43812	D	AEFBI	0.180511	0.30782	N	0.229327766573103	0.52624	3.435497	0.309574967413444	0.56101	3.773133	0.400014813711356	0.20122	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.96	5.1	0.68917	0.757000	0.26098	1.722000	0.28267	0.599000	0.40250	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.9321:0.0:0.0679	15.033	0.71382	819	0.41190	EF-hand domain, type 1;EF-hand domain, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	34	chr6	144789225	.	C	A	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.54;DP=699;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-2.334;SOR=0.559	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr6	145735363	145735363	C	G	exonic	EPM2A	.	nonsynonymous SNV	EPM2A:NM_001018041:exon1:c.G136C:p.A46P,EPM2A:NM_001360057:exon1:c.G136C:p.A46P,EPM2A:NM_001368130:exon1:c.G136C:p.A46P,EPM2A:NM_005670:exon1:c.G136C:p.A46P	Epilepsy, progressive myoclonic 2A (Lafora), Autosomal recessive	119	1397	5	1	0	7	0.00249911	.	.	YES	172293	Progressive_myoclonic_epilepsy|not_specified|not_provided|Inborn_genetic_diseases|Lafora_disease	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.250	.	.	0.0115815	0.0208	0	0	0.0667	.	0.0149	0.1	0.0203	0.0009961	154	154602	rs374338349	0.0037	0.0027	0.0037	0.0038	0.1562	0.0036	0.0036	0.1493	0.1465	0.0002	0	0.0057	0.1562	0.0432	0.0014	0.0004	0.0094	0.0084	0.0044	0.0044	0.0035	0.0052	0.0881	0.0041	0.0040	0.0806	0.0777	0.0005	0	0.0006	0.0021	0.0881	0.0168	0	0.0005	0.0070	0.0097	0.363	0.11807	T	0.284	0.21411	T	0.965	0.56013	D	0.833	0.59784	P	0.882773	0.08743	N	0.940554	0.560579	0.32209	D	1.61	0.41143	L	-2.27	0.87433	D	-0.11	0.08653	N	0.154	0.16586	-0.5218	0.67848	T	0.481	0.80149	T	10	0.0021043122	0.00030	T	.	.	.	0.250	0.55888	.	.	.	.	0.29291766989800316	0.29204	0.309939455487	0.33302	0.825751900673	0.85912	D	0.34186	0.71071	T	-0.332581	0.05918	T	-0.188818	0.55701	T	0.0482546783300316	0.05189	T	0.634537	0.24876	T	.	.	.	.	.	.	.	.	-4.18	0.27126	T	0.10172011140703817	0.07650	0.094	0.24599	B	.;.;.;.	.;.;.;.	2.290930	0.29305	18.08	0.98783304603619304	0.46175	0.64867	0.32547	D	ALL	0.074843	0.15013	N	-0.268856342466172	0.30358	1.691961	-0.369507853396789	0.25912	1.42792	0.999999999949135	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.29	2.4	0.28568	-0.075000	0.11392	2.939000	0.35656	0.300000	0.18932	0.021000	0.19753	0.121000	0.22902	0.021000	0.11733	0.0:0.7493:0.0:0.2507	6.478	0.21246	698	0.58074	Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004577	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.029412	0.02632	525.33	40	chr6	145735363	.	C	G	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=519;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-1.057;SOR=0.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:57:.:.:0,57,855:.	18	0	1	0
chr6	145805261	145805261	G	C	exonic	FBXO30	.	nonsynonymous SNV	FBXO30:NM_001348092:exon2:c.C1145G:p.S382C,FBXO30:NM_032145:exon2:c.C1145G:p.S382C	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0005	0.0115815	0.0082	0.0007	0.0003	0.0787	0.0135	0.0015	0.0099	0.0067	0.0072185	1116	154602	rs17075385	0.0031	0.0031	0.0030	0.0031	0.0641	0.0030	0.0030	0.0620	0.0611	0.0003	0.0002	0.0022	0.0641	0.0143	0.0010	0.0003	0.0049	0.0058	0.0042	0.0042	0.0034	0.0050	0.0707	0.0039	0.0038	0.0647	0.0624	0.0005	0	0.0006	0.0020	0.0707	0.0138	0	0.0005	0.0066	0.0079	0.038	0.42783	D	0.04	0.50809	D	0.948	0.53620	P	0.41	0.44785	B	0.001525	0.38731	N	0.301525	0.787468	0.34344	D	1.895	0.50365	L	2.07	0.20387	T	-1.72	0.40850	N	0.479	0.51405	-1.1247	0.02054	T	0.036	0.15640	T	10	0.0020798743	0.00030	T	.	.	.	0.091	0.26358	.	.	0.110392049598	0.10638	0.4686408344277404	0.46783	0.507051936631	0.48895	0.350730121136	0.18029	T	0.16688	0.51329	T	-0.497637	0.00589	T	-0.425909	0.30399	T	0.0188284114148665	0.00594	T	0.726827	0.34112	T	0.19096018	0.40704	0.11094832	0.26757	0.19096018	0.40704	0.11094832	0.26756	-5.364	0.40572	T	.	.	0.087	0.10979	B	.	.	2.933527	0.38978	20.9	0.97832204356795172	0.36266	0.96697	0.70458	D	AEFBCI	0.681366	0.64474	D	0.548160979522782	0.69972	5.433383	0.611072162834418	0.75742	6.364746	0.999999999999953	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	5.46	0.80021	7.147000	0.76970	6.756000	0.56523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.844	0.88635	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	3071.33	162	chr6	145805261	.	G	C	3071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=2472;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.605;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	18	0	1	0
chr6	145945526	145945526	C	T	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon8:c.G1433A:p.R478Q,SHPRH:NM_001370327:exon8:c.G1433A:p.R478Q,SHPRH:NM_173082:exon8:c.G1433A:p.R478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00871628231048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333840757	7.529e-06	7.524e-06	8.172e-06	6.879e-06	0.0003	4.04e-06	2.95e-06	6.101e-05	2.525e-05	0	2.242e-05	0	0	0	0.0003	6.297e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.47320	D	0.148	0.56192	T	0.994	0.66517	D	0.811	0.58656	P	0.000066	0.52346	D	0.074265	0.977347	0.25318	N	1.575	0.39704	L	1.99	0.21666	T	-0.66	0.22727	N	0.135	0.19861	-1.0914	0.05303	T	0.040	0.17020	T	10	0.1537014	0.29007	T	0.008716	0.23025	T	0.094	0.27141	0.504	0.59770	0.33340067248	0.32956	0.3335721873357546	0.33270	0.391479022629	0.40346	0.466480731964	0.34198	T	0.373405	0.73741	T	-0.309757	0.07770	T	-0.599856	0.12823	T	0.508550348393291	0.32943	D	0.941606	0.78180	D	0.15231724	0.34582	0.1637585	0.37971	0.15231724	0.34581	0.1637585	0.37971	-8.322	0.63331	D	.	.	0.367	0.57622	A	.;.;.;.;.	.;.;.;.;.	5.167768	0.86607	29.0	0.99928753557443617	0.99222	0.72083	0.35296	D	AEFBI	0.107701	0.21449	N	0.017089564548991	0.42633	2.572403	-0.0145666961246194	0.39056	2.310032	5.27910176104065E-4	0.07225	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.52	2.79	0.31792	2.763000	0.47287	4.853000	0.45395	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.7891:0.0:0.2109	10.434	0.43612	358	0.85037	SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;.;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1740.33	33	chr6	145945526	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=766;ExcessHet=0;FS=3.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.695;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr6	145954847	145954847	T	G	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon2:c.A476C:p.D159A,SHPRH:NM_001370327:exon2:c.A476C:p.D159A,SHPRH:NM_173082:exon2:c.A476C:p.D159A	.	426	1089	7	0	0	7	0.00320366	.	.	.	735465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0005	0.0115815	0.0082	0.0007	0.0003	0.0777	0.0135	0.0015	0.0100	0.0066	0.0071539	1106	154602	rs117586623	0.0031	0.0031	0.0030	0.0031	0.0640	0.0030	0.0030	0.0620	0.0611	0.0002	0.0002	0.0022	0.0640	0.0143	0.0010	0.0003	0.0049	0.0057	0.0042	0.0042	0.0034	0.0050	0.0714	0.0039	0.0038	0.0654	0.0631	0.0005	0	0.0006	0.0020	0.0714	0.0139	0	0.0005	0.0062	0.0081	0.024	0.49613	D	0.073	0.59159	T	0.039	0.23586	B	0.016	0.22909	B	0.124150	0.18891	N	0.506651	0.516331	0.31606	N	1.935	0.51832	L	-0.03	0.63240	T	-1.21	0.30762	N	0.255	0.30914	-0.9200	0.45554	T	0.117	0.41142	T	10	0.0016303062	0.00019	T	.	.	.	0.043	0.11576	.	.	0.645427016598	0.64249	0.30821943746811487	0.30734	0.101150159241	0.11438	0.274795621634	0.06777	T	0.029	0.21028	T	-0.457798	0.01014	T	-0.369523	0.36945	T	0.0231720178514296	0.01044	T	0.659534	0.26859	T	0.14530158	0.33314	0.1169254	0.28225	0.14530158	0.33314	0.1169254	0.28224	-3.703	0.19525	T	.	.	0.083	0.10545	B	.;.;.;.;.	.;.;.;.;.	2.034017	0.25852	16.91	0.98716863114448306	0.45142	0.97218	0.73388	D	AEFBI	0.281295	0.39490	N	-0.274623839393304	0.30132	1.677277	-0.185219966224242	0.32078	1.821531	0.999999999287481	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.66	5.66	0.87293	2.157000	0.41946	1.116000	0.24201	0.665000	0.62972	0.635000	0.28042	0.185000	0.23452	0.972000	0.54974	0.0:0.0:0.0:1.0	15.884	0.79009	356	0.85138	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1251.33	36	chr6	145954847	.	T	G	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.498;DP=757;ExcessHet=0;FS=4.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.896;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1203	18	0	1	0
chr6	145955144	145955144	C	T	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon2:c.G179A:p.S60N,SHPRH:NM_001370327:exon2:c.G179A:p.S60N,SHPRH:NM_173082:exon2:c.G179A:p.S60N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0048	0.00439297	0.0019	0.0159	0.0020	0	0	0.0007	0	0.0002	0.0017917	277	154602	rs182151362	0.0008	0.0008	0.0009	0.0008	0.0126	0.0008	0.0008	0.0116	0.0112	0.0126	0.0020	0.0062	5.038e-05	0	0.0026	0.0004	0.0018	0.0002	0.0047	0.0047	0.0049	0.0045	0.0150	0.0044	0.0043	0.0141	0.0137	0.0150	0	0.0019	0.0058	0	0	0.0204	0.0004	0.0043	0.0002	0.073	0.37118	T	0.255	0.24334	T	0.22	0.33195	B	0.073	0.34351	B	0.006636	0.31903	N	0.291823	1	0.08975	N	1.79	0.46772	L	-0.09	0.64086	T	-0.52	0.16187	N	0.22	0.26475	-1.0238	0.22476	T	0.089	0.34298	T	10	0.0030740798	0.00051	T	.	.	.	0.033	0.08068	.	.	0.454426139905	0.45068	0.15760735492222078	0.15681	0.0797031402011	0.08973	0.272950291634	0.06528	T	0.014246	0.12164	T	-0.605931	0.00134	T	-0.63083	0.10351	T	0.00383369042983152	0.00041	T	0.633137	0.24745	T	0.04213333	0.06335	0.052692916	0.08732	0.04213333	0.06334	0.052692916	0.08731	-3.768	0.20327	T	.	.	0.067	0.05623	B	.;.;.;.	.;.;.;.	0.742372	0.11117	7.763	0.86529392320341492	0.16597	0.20109	0.20918	N	ALL	0.070680	0.14041	N	-0.811117788048058	0.13026	0.6388661	-0.867937097793996	0.12857	0.6637981	0.999999995120782	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.66	1.9	0.24770	0.211000	0.17268	0.085000	0.14440	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.252000	0.23314	0.0:0.6472:0.0:0.3528	8.816	0.34155	356	0.85138	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.004076	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1806.33	36	chr6	145955144	.	C	T	1806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=774;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-2.135;SOR=0.56	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1820,0,1821	18	0	1	0
chr6	146434425	146434425	C	G	exonic	GRM1	.	nonsynonymous SNV	GRM1:NM_001278064:exon8:c.C3214G:p.P1072A	Spinocerebellar ataxia, autosomal recessive 13, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	439262	Autosomal_recessive_spinocerebellar_ataxia_13|Spinocerebellar_ataxia_44|not_provided|not_specified	MONDO:MONDO:0013905,MedGen:C3553816,OMIM:614831,Orphanet:324262|MONDO:MONDO:0033479,MedGen:C4521563,OMIM:617691,Orphanet:631095|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0061	0.00559105	0.0026	0.0170	0.0031	0.0002	0	0.0016	0.0034	0.0003	0.0024838	384	154602	rs146753539	0.0016	0.0016	0.0016	0.0016	0.0167	0.0015	0.0015	0.0155	0.0151	0.0167	0.0028	0.0134	7.558e-05	1.881e-05	0.0094	0.0009	0.0036	0.0004	0.0060	0.0060	0.0063	0.0058	0.0169	0.0057	0.0056	0.0158	0.0154	0.0169	0	0.0042	0.0150	0.0002	0	0.0306	0.0012	0.0043	0.0010	0.08	0.33585	T	0.348	0.17585	T	0.008	0.14655	B	0.016	0.17743	B	0.001180	0.39978	N	0.283949	1	0.21346	N	0.345	0.11182	N	-2.3	0.87671	D	-0.66	0.19085	N	0.158	0.16447	-0.7274	0.59094	T	0.269	0.64013	T	10	0.004937917	0.00106	T	.	.	.	0.107	0.30369	.	.	0.255117706274	0.25116	0.3417290464690613	0.34085	0.695641741185	0.60820	0.337348997593	0.16041	T	0.153012	0.49367	T	-0.474173	0.00801	T	-0.439613	0.28852	T	0.00168929780387126	0.00017	T	0.681032	0.28992	T	0.05399477	0.10297	0.093030445	0.21955	0.057374626	0.11411	0.08657157	0.20065	-5.535	0.42194	T	.	.	0.062	0.01197	B	.;.	.;.	1.258482	0.16560	12.62	0.94088151190253688	0.24242	0.47564	0.28011	N	AEFDBIJ	0.206323	0.33260	N	-0.633384299388915	0.17948	0.9279037	-0.568155955736004	0.20325	1.094585	0.998466286669555	0.37014	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.71	2.87	0.32523	1.357000	0.33694	0.381000	0.17781	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.612000	0.31691	0.0:0.7456:0.1201:0.1343	9.181	0.36302	382	0.83637	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013609	0.030612	0.020380	0.014620	0.000000	0.017241	0.000000	0.003788	0.02632	1740.33	141	chr6	146434425	.	C	G	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=1957;ExcessHet=0;FS=3.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.19;SOR=0.413	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1754,0,1966	18	0	1	0
chr6	146733907	146733907	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon22:c.G2671A:p.V891I	.	426	1057	36	3	0	42	0.0194805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0042	0.00559105	0.0110	0.0009	0.0074	0	0.0006	0.0072	0.0205	0.0209	0.0023415	362	154602	rs61742778	0.0044	0.0043	0.0039	0.0050	0.0215	0.0044	0.0043	0.0206	0.0203	0.0004	0.0022	0.0102	0.0001	0.0019	0.0116	0.0034	0.0049	0.0215	0.0030	0.0030	0.0027	0.0033	0.0199	0.0028	0.0027	0.0167	0.0155	0.0006	0.0066	0.0014	0.0092	0	0.0008	0.0068	0.0038	0.0043	0.0199	0.599	0.05652	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	1.49	0.31470	T	-0.22	0.10480	N	0.046	0.01825	-1.0320	0.19809	T	0.019	0.07753	T	9	0.002518624	0.00038	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.039220856352879786	0.03868	.	.	0.313933312893	0.12501	T	0.006145	0.05579	T	-0.711101	0.00031	T	-0.777968	0.02516	T	0.00170575897135944	0.00017	T	0.347365	0.07649	T	0.024575064	0.01303	0.039445285	0.04040	0.024575064	0.01303	0.039445285	0.04039	-2.225	0.04163	T	.	.	0.073	0.04764	B	.	.	-0.893189	0.00937	0.036	0.48854782117413253	0.04111	0.01048	0.03908	N	AEFI	0.031432	0.03361	N	-1.77433703604253	0.00611	0.02633791	-1.89504143448668	0.00501	0.0221883	0.982981029885129	0.30486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-9.47	0.00501	-1.417000	0.02571	-2.776000	0.03373	-1.368000	0.01174	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.7165:0.1052:0.1783:0.0	14.096	0.64548	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015152	0.005319	0.053571	0.004464	0.000000	0.000000	0.023256	0.026316	0.02632	786.33	33	chr6	146733907	.	G	A	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.643;DP=673;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.166;SOR=1.236	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	18	0	1	0
chr6	148543929	148543929	G	A	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.G1742A:p.R581Q,SASH1:NM_001346508:exon11:c.G2231A:p.R744Q,SASH1:NM_001346509:exon11:c.G2108A:p.R703Q,SASH1:NM_001346505:exon18:c.G2324A:p.R775Q,SASH1:NM_015278:exon18:c.G2459A:p.R820Q,SASH1:NM_001346506:exon19:c.G2087A:p.R696Q	.	418	1082	22	0	0	22	0.010064	.	.	.	710255	not_provided|Dyschromatosis_universalis_hereditaria_1|Cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma|not_specified	MedGen:C3661900|MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500|MedGen:C5193062,OMIM:618373|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0172446337167	0.0013	0.00219649	0.0016	0.0004	0.0011	0.0001	0.0003	0.0012	0.0044	0.0053	0.0015071	233	154602	rs144633784	0.0016	0.0016	0.0015	0.0018	0.0062	0.0016	0.0015	0.0058	0.0056	0.0001	0.0015	0.0001	2.519e-05	0.0002	0.0052	0.0014	0.0018	0.0062	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0004	0	0.0016	0	0.0006	0.0003	0.0034	0.0017	0.0028	0.0077	0.002	0.72154	D	0.121	0.47581	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.053272	0.999772	0.48980	D	2.125	0.59049	M	0.96	0.42888	T	-1.05	0.27463	N	0.334	0.42443	-0.7446	0.58216	T	0.194	0.54782	T	10	0.0102826655	0.00229	T	0.017245	0.38871	T	0.218	0.51265	.	.	0.77987184126	0.77784	0.4749283720298943	0.47411	0.176476331138	0.19866	0.362321317196	0.19724	T	0.106191	0.41731	T	-0.228314	0.16874	T	-0.0985372	0.63511	T	0.0326058988812123	0.02405	T	0.877812	0.59215	D	0.34333792	0.56544	0.21063916	0.45459	0.32845256	0.55344	0.26970348	0.52853	-6.874	0.53107	T	0.1422885936812735	0.16079	0.089	0.29116	B	.;.	.;.	4.306935	0.65809	24.9	0.99960862353843405	0.99997	0.97960	0.78445	D	AEFBI	0.581725	0.58162	D	0.739948704742311	0.82251	7.716262	0.720014076574633	0.83901	8.144222	0.999999999995787	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.951000	0.69992	7.627000	0.62562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.054	0.86402	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	2161.33	37	chr6	148543929	.	G	A	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=792;ExcessHet=0;FS=1.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.452;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr6	148543952	148543952	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1765T:p.P589S,SASH1:NM_001346508:exon11:c.C2254T:p.P752S,SASH1:NM_001346509:exon11:c.C2131T:p.P711S,SASH1:NM_001346505:exon18:c.C2347T:p.P783S,SASH1:NM_015278:exon18:c.C2482T:p.P828S,SASH1:NM_001346506:exon19:c.C2110T:p.P704S	.	419	1087	16	0	0	16	0.00730594	.	.	.	3214557	SASH1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.0125042895155	0.0007	.	0.0012	0.0006	0.0012	0	0	0.0009	0.0022	0.0037	0.0010867	168	154602	rs147972493	0.0015	0.0015	0.0015	0.0016	0.0038	0.0015	0.0014	0.0035	0.0034	0.0002	0.0011	0	0	0	0.0021	0.0015	0.0015	0.0038	0.0007	0.0008	0.0009	0.0006	0.0025	0.0006	0.0006	0.0014	0.0011	0.0001	0.0077	0.0010	0	0	0	0.0068	0.0010	0	0.0025	0.035	0.43708	D	0.042	0.51421	D	0.001	0.07471	B	0.007	0.12992	B	0.000840	0.41547	N	0.278725	0.945397	0.37486	D	2.075	0.57047	M	1.2	0.37405	T	-1.86	0.43524	N	0.117	0.14054	-1.0922	0.05175	T	0.038	0.16462	T	10	0.0067847073	0.00154	T	0.012504	0.31128	T	0.030	0.07022	.	.	0.464528537357	0.46081	0.2787007431098075	0.27783	0.150520771333	0.16976	0.327679634094	0.14585	T	0.018183	0.19141	T	-0.54191	0.00326	T	-0.552983	0.17040	T	0.0204157287892247	0.00741	T	0.792821	0.43457	T	0.062609516	0.13096	0.065189876	0.13178	0.062609516	0.13096	0.065189876	0.13178	-4.022	0.24132	T	0.1412241834957998	0.15870	0.090	0.25817	B	.;.	.;.	2.563731	0.33207	19.27	0.97584639444950949	0.34758	0.82930	0.42094	D	AEFBI	0.160861	0.28685	N	-0.488446891105905	0.22458	1.199377	-0.40516096959555	0.24844	1.362845	0.995062197012738	0.33934	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	2.14	0.26518	1.111000	0.30773	1.100000	0.24060	-0.214000	0.08267	0.998000	0.41325	0.999000	0.35428	0.813000	0.38311	0.1949:0.6203:0.1084:0.0765	6.203	0.19801	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	2873.33	37	chr6	148543952	.	C	T	2873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=937;ExcessHet=0;FS=4.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-1.173;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	61.54	35	chr6	149378547	.	A	G	61.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.414;DP=1326;ExcessHet=0.119;FS=171.797;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.13;ReadPosRankSum=0.368;SOR=10.15	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	17	0	2	0
chr6	149853077	149853077	C	T	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon2:c.G697A:p.E233K	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0150557161445	7.7e-05	.	4.124e-05	0	0	0	0	4.503e-05	0	0.0001	3.23e-05	5	154602	rs11278	1.507e-05	1.505e-05	2.726e-06	2.753e-05	0.0002	9.86e-06	8.42e-06	0.0001	9.47e-05	3e-05	0	0	2.532e-05	0	0	3.6e-06	0	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.142	0.25457	T	0.311	0.23845	T	0.933	0.52105	P	0.187	0.37572	B	0.001547	0.38671	N	0.311029	0.891038	0.81001	D	1.725	0.44537	L	3.66	0.09635	T	-2.82	0.61580	D	0.511	0.54234	-0.8810	0.49681	T	0.008	0.02884	T	10	0.33903348	0.50997	T	0.015056	0.35570	T	0.153	0.40148	.	.	0.458554320643	0.45480	0.411404270116858	0.41056	0.49164195058	0.47847	0.504627108574	0.39473	T	0.066278	0.32904	T	-0.303028	0.08377	T	-0.469455	0.25574	T	0.90947812795639	0.56439	D	0.938506	0.76886	D	0.23159006	0.45933	0.1935273	0.42927	0.23159006	0.45933	0.1935273	0.42926	-10.342	0.75934	D	.	.	0.168	0.47005	B	.;.	.;.	3.924798	0.57328	23.8	0.99811494419340019	0.89531	0.87219	0.46693	D	AEFBHCI	0.670236	0.63739	D	0.0903716326070991	0.46014	2.848476	0.125327165765524	0.45847	2.840821	0.999999014865989	0.74766	0.675385	0.55134	0	0.596491	0.49125	0	0.693117	0.63056	0	0.56214	0.19341	0	.	.	5.54	3.77	0.42499	7.413000	0.79318	0.997000	0.23233	0.597000	0.34315	1.000000	0.71638	0.456000	0.24978	0.922000	0.45779	0.0:0.8341:0.0:0.1659	9.514	0.38260	440	0.80101	PKD domain|PKD/Chitinase domain;PKD domain|PKD/Chitinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1537.83	34	chr6	149853077	.	C	T	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=762;ExcessHet=0.119;FS=1.3;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.04;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	17	0	2	0
chr6	149863465	149863465	G	A	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon1:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00119808	0.0157	0	0.1667	0	0	0.0241	0	0.0283	0.0004786	74	154602	rs143869691	0.0057	0.0050	0.0059	0.0056	0.0064	0.0056	0.0056	0.0063	0.0062	0.0009	0.0013	0.0022	7.397e-05	0.0029	0.0006	0.0064	0.0040	0.0029	0.0031	0.0031	0.0032	0.0030	0.0053	0.0028	0.0027	0.0048	0.0047	0.0009	0	0.0017	0.0023	0	0.0020	0	0.0053	0.0019	0.0021	0.03	0.45393	D	0.151	0.46182	T	0.091	0.37004	B	0.075	0.30390	B	0.000019	0.62929	D	0.070513	0.990175	0.81001	D	1.085	0.27262	L	3.46	0.11947	T	-1.45	0.36980	N	0.127	0.39356	-1.0543	0.13225	T	0.015	0.05994	T	10	0.002847761	0.00045	T	.	.	.	0.095	0.27398	.	.	0.3571064206	0.35317	0.4751080978006749	0.47429	1.9630343887	0.93482	0.772154569626	0.77748	T	0.012022	0.21588	T	-0.61971	0.00110	T	-0.661581	0.08160	T	0.0907386106397608	0.11306	T	0.671133	0.27986	T	0.30156794	0.53046	0.26510108	0.52339	0.30156794	0.53046	0.26510108	0.52338	-8.63	0.65287	D	.	.	0.117	0.27880	B	.;.	.;.	3.294649	0.45196	22.1	0.99232540201256492	0.56278	0.52693	0.29192	D	ALL	0.281361	0.39496	N	-0.0287260554408376	0.40557	2.410616	0.0563761615591603	0.42381	2.562419	0.999999999999949	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.47417	0.07244	0	0.003489	0.00041	3	.	.	4.8	2.98	0.33575	2.505000	0.45084	6.007000	0.52582	0.635000	0.51984	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1759:0.0:0.8241:0.0	9.789	0.39860	418	0.81602	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	628.33	31	chr6	149863465	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=673;ExcessHet=0;FS=2.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.445;SOR=0.322	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1146	18	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	866.83	34	chr6	150389354	.	G	A	866.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.015;DP=640;ExcessHet=0.119;FS=2.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.528;SOR=1.066	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	17	0	2	0
chr6	150831254	150831254	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2026A:p.A676T,PLEKHG1:NM_001329802:exon14:c.G2104A:p.A702T,PLEKHG1:NM_001329798:exon15:c.G2320A:p.A774T,PLEKHG1:NM_001329799:exon15:c.G2263A:p.A755T,PLEKHG1:NM_001329800:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001329801:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001029884:exon16:c.G2143A:p.A715T	.	425	1073	20	4	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0034	0.028754	0.0152	0.0016	0.0021	0.1465	0.0017	0.0041	0.0088	0.0147	0.0144371	2232	154602	rs79596384	0.0091	0.0091	0.0091	0.0092	0.1325	0.0090	0.0090	0.1295	0.1283	0.0013	0.0021	0.0012	0.1325	0.0013	0.0054	0.0050	0.0137	0.0168	0.0083	0.0084	0.0077	0.0090	0.1353	0.0079	0.0078	0.1270	0.1236	0.0015	0	0.0022	0.0014	0.1353	0.0005	0.0034	0.0051	0.0085	0.0203	1.0	0.00964	T	0.572	0.08746	T	0.001	0.07471	B	0.0	0.01387	B	0.694776	0.10144	N	0.885659	1	0.08975	N	-1.405	0.00592	N	0.33	0.58323	T	-0.86	0.23372	N	0.007	0.00055	-1.0098	0.26981	T	0.020	0.08407	T	10	0.0015370548	0.00017	T	.	.	.	0.023	0.04649	.	.	.	.	0.06310798256465852	0.06249	.	.	0.208453893661	0.00747	T	0.004097	0.03512	T	-0.767083	0.00014	T	-0.744818	0.03691	T	0.0019185261821764	0.00020	T	0.385761	0.09460	T	0.03489112	0.04004	0.044500437	0.05781	0.03489112	0.04004	0.044500437	0.05781	-3.454	0.15794	T	.	.	0.064	0.01909	B	.;.	.;.	-1.437036	0.00335	0.006	0.75896630633282236	0.11253	0.02693	0.07333	N	AEFBI	0.038027	0.05321	N	-1.52829799366686	0.01666	0.0728699	-1.52173222194463	0.02177	0.09975195	0.929668500685307	0.26977	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.61	-3.34	0.04635	-1.969000	0.01596	-4.017000	0.02391	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3227:0.3114:0.2663:0.0996	2.436	0.04209	960	0.08626	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.015152	0.02632	1357.33	153	chr6	150831254	.	G	A	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.93;DP=2033;ExcessHet=0;FS=2.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.318;SOR=0.639	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr6	151350612	151350612	A	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A1906C:p.S636R,AKAP12:NM_144497:exon2:c.A1927C:p.S643R,AKAP12:NM_005100:exon4:c.A2221C:p.S741R	.	431	1057	32	2	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0024	0.00838658	0.0057	0.0004	0.0056	0	0.0003	0.0035	0.0022	0.0237	0.0053622	829	154602	rs146088180	0.0040	0.0040	0.0033	0.0047	0.0230	0.0039	0.0039	0.0222	0.0219	0.0002	0.0035	0.0027	0	0.0004	0.0061	0.0030	0.0042	0.0230	0.0027	0.0027	0.0023	0.0031	0.0287	0.0025	0.0024	0.0248	0.0233	0.0004	0	0.0021	0.0014	0.0002	0.0006	0.0034	0.0030	0.0024	0.0287	0.007	0.59928	D	0.045	0.52060	D	0.172	0.28767	B	0.058	0.32546	B	0.000166	0.48594	D	0.000000	1	0.08975	N	2.615	0.76484	M	3.05	0.08721	T	-3.12	0.63782	D	0.297	0.34336	-0.9588	0.39405	T	0.009	0.03315	T	10	0.0046565533	0.00097	T	.	.	.	0.048	0.13305	0.338	0.32816	0.31291088546	0.30898	0.0800545487200333	0.07940	0.56273454734	0.52734	0.361177116632	0.19557	T	0.432458	0.78022	T	-0.503759	0.00545	T	-0.478806	0.24574	T	0.0570421717880774	0.06695	T	0.845515	0.52437	T	0.2066933	0.42852	0.1648525	0.38168	0.2066933	0.42852	0.1648525	0.38167	-6.4	0.49509	T	.	.	0.501	0.65101	A	.;.;.;.	.;.;.;.	2.148102	0.27360	17.44	0.99226135576698771	0.56057	0.65544	0.32773	D	AEFDBCI	0.312985	0.41827	N	-0.627014738732703	0.18136	0.9391508	-0.628932184624896	0.18751	1.003074	0.991744038446975	0.32594	0.67177	0.52595	0	0.573888	0.26702	0	0.786243	0.99158	0	0.711	0.71501	0	.	.	5.63	3.24	0.36257	2.373000	0.43920	4.637000	0.44139	-0.071000	0.16307	0.746000	0.29090	0.999000	0.35428	0.008000	0.08271	0.7393:0.0:0.1356:0.1251	5.780	0.17567	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.034091	0.02632	1090.33	47	chr6	151350612	.	A	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.706;DP=1357;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	18	0	1	0
chr6	151807928	151807928	C	T	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.C16T:p.H6Y,ESR1:NM_001385572:exon1:c.C16T:p.H6Y,ESR1:NM_001122740:exon2:c.C16T:p.H6Y,ESR1:NM_001122741:exon2:c.C16T:p.H6Y,ESR1:NM_001291230:exon2:c.C16T:p.H6Y,ESR1:NM_001291241:exon2:c.C16T:p.H6Y,ESR1:NM_001385569:exon2:c.C16T:p.H6Y,ESR1:NM_001385571:exon2:c.C16T:p.H6Y,ESR1:NM_001122742:exon3:c.C16T:p.H6Y,ESR1:NM_001385568:exon3:c.C16T:p.H6Y,ESR1:NM_001385570:exon3:c.C16T:p.H6Y	Estrogen resistance, Autosomal recessive	411	1105	6	0	0	6	0.00270758	.	.	.	721809	ESR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.492	0.42712642562	0.0036	0.000599042	0.0036	0.0008	0.0004	0	0.0028	0.0059	0.0012	0.0010	0.0034217	529	154602	rs139960913	0.0046	0.0047	0.0048	0.0045	0.0053	0.0046	0.0045	0.0052	0.0052	0.0006	0.0009	0.0039	0	0.0044	0.0016	0.0053	0.0054	0.0013	0.0031	0.0031	0.0034	0.0027	0.0052	0.0028	0.0028	0.0047	0.0046	0.0007	0	0.0016	0.0035	0	0.0035	0	0.0052	0.0028	0.0017	0.001	0.91255	D	0.0	0.92824	D	0.993	0.70673	D	0.742	0.76916	P	0.000147	0.49130	D	0.211827	0.999711	0.48481	D	0.625	0.15840	N	0.33	0.93640	T	-3.05	0.62976	D	0.555	0.58202	0.845	0.94962	D	0.866	0.95556	D	10	0.012596518	0.00270	T	0.427126	0.93909	D	0.492	0.77847	.	.	0.798204140292	0.79632	0.7424126764245096	0.74187	1.33405175455	0.83701	0.829206347466	0.86441	D	0.401821	0.76932	T	-0.125012	0.32307	T	0.0487432	0.73502	D	0.0466939544041783	0.04909	T	0.974702	0.91638	D	0.15614194	0.35251	0.2979521	0.55829	0.20713423	0.42909	0.25284997	0.50921	-4.072	0.24876	T	.	.	0.344	0.59572	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.016602	0.59292	24.1	0.99728449028614874	0.82549	0.82961	0.42122	D	AEFDBHCI	0.612775	0.60072	D	0.506852934142356	0.67492	5.089138	0.446535983293318	0.64496	4.705958	0.999999994463334	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.19	5.19	0.71428	3.940000	0.56310	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:1.0:0.0:0.0	18.714	0.91633	740	0.53092	.;.;.;.;.;.;Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	1594.33	33	chr6	151807928	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=742;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.421;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1245:.	18	0	1	0
chr6	152098916	152098916	C	T	exonic	ESR1	.	stopgain	ESR1:NM_000125:exon8:c.C1738T:p.Q580X,ESR1:NM_001122740:exon9:c.C1738T:p.Q580X,ESR1:NM_001122741:exon9:c.C1738T:p.Q580X,ESR1:NM_001291230:exon9:c.C1744T:p.Q582X,ESR1:NM_001291241:exon9:c.C1735T:p.Q579X,ESR1:NM_001385569:exon9:c.C1738T:p.Q580X,ESR1:NM_001122742:exon10:c.C1738T:p.Q580X,ESR1:NM_001385568:exon10:c.C1738T:p.Q580X	Estrogen resistance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031854	0.25111	N	0.395551	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.755	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;Dominant;Dominant;Dominant;.	High;High;High;High;.	9.566973	0.99080	42	0.99705007922783739	0.80936	0.92247	0.55274	D	AEFDBHCI	0.058628	0.11012	N	1.08957487492215	0.97936	17.06782	0.943874420378452	0.97215	15.76794	0.999999999999994	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	4.079000	0.57335	5.872000	0.50545	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.538	0.95253	922	0.19044	Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2119.83	34	chr6	152098916	.	C	T	2119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.897;DP=762;ExcessHet=0.119;FS=10.124;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.247;SOR=1.424	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1386	17	0	2	0
chr6	152148069	152148069	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon8:c.C1417T:p.L473F,SYNE1:NM_001347701:exon10:c.C1558T:p.L520F,SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	191466	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	0.0321819213905	0.0039	0.00219649	0.0053	0.0007	0.0014	0.0004	0.0044	0.0071	0.0055	0.0066	0.0050646	783	154602	rs141716975	0.0059	0.0059	0.0059	0.0059	0.0064	0.0058	0.0058	0.0063	0.0063	0.0006	0.0019	0.0075	0.0004	0.0052	0.0043	0.0064	0.0057	0.0059	0.0043	0.0043	0.0044	0.0041	0.0067	0.0040	0.0039	0.0062	0.0060	0.0012	0	0.0028	0.0078	0.0002	0.0033	0	0.0067	0.0066	0.0058	0.009	0.57480	D	0.101	0.41573	T	0.911	0.50336	P	0.391	0.44178	B	0.005705	0.32572	N	0.138648	0.723846	0.33646	D	2.79	0.81396	M	0.53	0.55090	T	-2.56	0.58896	D	0.48	0.59732	-0.9129	0.46492	T	0.130	0.43989	T	10	0.0070774257	0.00161	T	0.032182	0.54073	D	0.174	0.44019	.	.	0.545475791818	0.54202	0.290431846695997	0.28956	0.3225650581	0.34443	0.480468869209	0.36121	T	0.435129	0.78197	T	-0.392228	0.02603	T	-0.328794	0.41602	T	0.0457955055264653	0.04746	T	0.794021	0.44782	T	0.14669088	0.33569	0.19622447	0.43341	0.19970521	0.41919	0.2417533	0.49578	-4.822	0.34847	T	.	.	0.100	0.19276	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.039976	0.40753	21.2	0.98991608755424321	0.49963	0.99201	0.92723	D	AEFBI	0.731805	0.67876	D	0.172805657544691	0.49895	3.185045	0.13736673968672	0.46477	2.892999	0.999627368547509	0.41093	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.34	3.45	0.38602	5.924000	0.69776	6.392000	0.55560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0731:0.0:0.7873:0.1396	9.784	0.39832	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	1030.33	34	chr6	152148069	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1154;ExcessHet=0;FS=4.468;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.705;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	18	0	1	0
chr6	152294013	152294013	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon93:c.G17584A:p.A5862T,SYNE1:NM_182961:exon94:c.G17797A:p.A5933T	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	3	1500	19	0	0	19	0.00629347	.	.	.	196385	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00736538391642	0.0007	0.000199681	0.0010	0	0.0012	0.0001	0	0.0014	0.0033	0.0005	0.0008926	138	154602	rs113962905	0.0008	0.0008	0.0008	0.0009	0.0108	0.0008	0.0008	0.0086	0.0079	0.0005	0.0013	0.0142	0	0.0001	0.0108	0.0005	0.0023	0.0005	0.0008	0.0008	0.0009	0.0007	0.0006	0.0007	0.0006	0.0004	0.0004	0.0002	0	0.0005	0.0147	0	9.427e-05	0.0136	0.0006	0.0024	0.0006	0.198	0.26192	T	0.153	0.34477	T	0.01	0.15535	B	0.005	0.11217	B	0.006843	0.31758	N	0.139342	0.793572	0.36737	D	0.425	0.12573	N	1.37	0.34253	T	-1.22	0.49352	N	0.124	0.11626	-1.0686	0.09723	T	0.026	0.11220	T	10	0.00496006	0.00106	T	0.007365	0.19523	T	0.018	0.03083	.	.	0.203808441222	0.19973	0.20704882517514758	0.20620	0.130525475997	0.14724	0.350232809782	0.17955	T	0.115213	0.43362	T	-0.49695	0.00595	T	-0.537052	0.18587	T	0.00708253380708282	0.00081	T	0.861914	0.55630	D	0.05951309	0.12104	0.086158104	0.19942	0.060044482	0.12275	0.080463	0.18204	-3.404	0.15110	T	.	.	0.069	0.08081	B	.;.;.;.;.	.;.;.;.;.	2.451546	0.31569	18.78	0.98255732140809338	0.39621	0.88468	0.48410	D	AEFBI	0.117508	0.23016	N	-0.458049244798964	0.23467	1.260463	-0.343890791056661	0.26699	1.476403	0.994501905923458	0.33667	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.49	2.58	0.30011	1.111000	0.30773	1.957000	0.29917	0.599000	0.40250	0.937000	0.32526	0.961000	0.29326	0.957000	0.51019	0.0:0.748:0.0:0.252	9.518	0.38285	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.040404	0.004076	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	1020.33	118	chr6	152294013	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=810;ExcessHet=0;FS=4.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-2.227;SOR=1.071	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1328	18	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	683.79	147	chr6	152331115	.	C	G	683.79	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.897;DP=2493;ExcessHet=1.3;FS=258.908;InbreedingCoeff=-0.2283;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.44;SOR=12.09	GT:AD:DP:GQ:PL	0/1:108,43:158:80:80,0,2503	10	0	5	4
chr6	152364955	152364955	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon63:c.C10058A:p.S3353Y,SYNE1:NM_182961:exon63:c.C10037A:p.S3346Y	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	.	195496	SYNE1-related_disorder|not_specified|Autosomal_recessive_ataxia,_Beauce_type|Arthrogryposis_multiplex_congenita_3,_myogenic_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided	.|MedGen:CN169374|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	0.009933312884	0.0046	0.00199681	0.0043	0.0010	0.0017	0	0.0030	0.0065	0.0055	0.0022	0.0043984	680	154602	rs150170988	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0007	0.0019	7.652e-05	2.519e-05	0.0035	0.0052	0.0073	0.0044	0.0023	0.0039	0.0039	0.0039	0.0038	0.0061	0.0036	0.0035	0.0056	0.0054	0.0012	0	0.0044	0	0	0.0033	0	0.0061	0.0028	0.0037	0.098	0.30800	T	0.188	0.29945	T	0.002	0.09854	B	0.004	0.10090	B	0.186687	0.16957	N	0.543802	0.999293	0.47197	D	0.84	0.21119	L	1.3	0.35590	T	-1.4	0.37375	N	0.278	0.38027	-1.0726	0.08851	T	0.035	0.14857	T	10	0.0111064315	0.00244	T	0.009933	0.25856	T	0.096	0.27654	.	.	0.351614576976	0.34778	0.2244873477656896	0.22363	0.171465741574	0.19314	0.400257349014	0.25105	T	0.339173	0.70835	T	-0.573699	0.00210	T	-0.587461	0.13886	T	0.0212920559100097	0.00831	T	0.854615	0.55137	D	0.06489483	0.13815	0.086930245	0.20172	0.07934664	0.18121	0.0965739	0.22950	-1.454	0.01672	T	.	.	0.076	0.05756	B	.;.;.	.;.;.	1.685810	0.21482	15.22	0.84459180720230087	0.15304	0.91252	0.53159	D	AEFDBI	0.437304	0.49716	N	-0.369852898958125	0.26549	1.449777	-0.244897618505376	0.29947	1.68202	0.123480322609556	0.16937	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.17	0.861	0.18186	3.031000	0.49417	1.455000	0.26636	0.676000	0.76740	1.000000	0.71638	0.813000	0.27056	1.000000	0.97212	0.0788:0.2332:0.5071:0.1809	4.372	0.10685	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.010101	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	3771.33	42	chr6	152364955	.	G	T	3771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.534;DP=1032;ExcessHet=0;FS=1.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.791;SOR=0.814	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	152425547	152425547	C	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon39:c.G5122T:p.A1708S,SYNE1:NM_182961:exon39:c.G5101T:p.A1701S	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.9071	0.526	.	194248	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|SYNE1-related_disorder|not_specified|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0031	0.000998403	0.0028	0.0005	0.0030	0	0.0026	0.0040	0.0033	0.0010	0.0027749	429	154602	rs149758808	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0043	0.0006	0.0020	3.826e-05	0	0.0027	0.0002	0.0044	0.0039	0.0008	0.0026	0.0026	0.0028	0.0024	0.0044	0.0024	0.0023	0.0040	0.0038	0.0007	0.0077	0.0016	0	0	0.0026	0	0.0044	0.0024	0.0021	0.447	0.10447	T	0.2	0.27591	T	0.02	0.18235	B	0.01	0.14941	B	0.052020	0.22931	N	0.372504	0.660476	0.81001	D	2.43	0.70455	M	1.2	0.37405	T	-0.65	0.18877	N	0.141	0.14054	-1.1117	0.02928	T	0.036	0.15465	T	10	0.007766992	0.00176	T	0.013676	0.33266	T	0.044	0.11924	.	.	0.314716216878	0.31082	0.029072802033419932	0.02856	0.121011525284	0.13633	0.331974953413	0.15233	T	0.106973	0.41878	T	-0.55659	0.00266	T	-0.571326	0.15328	T	0.0204669671630273	0.00746	T	0.852015	0.54241	D	0.08967832	0.20962	0.07782059	0.17372	0.092330486	0.21658	0.08882486	0.20734	-3.819	0.21089	T	.	.	0.080	0.07985	B	.;.	.;.	2.761652	0.36222	20.2	0.79796005974418305	0.12904	0.93519	0.58438	D	AEFBI	0.623676	0.60753	D	-0.253456163731457	0.30965	1.731696	-0.10375460422831	0.35239	2.036346	0.676454824053053	0.22431	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.72	4.85	0.62375	2.590000	0.45819	2.176000	0.31092	0.589000	0.31548	1.000000	0.71638	0.989000	0.31174	0.236000	0.22896	0.0:0.9286:0.0:0.0714	14.147	0.64889	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	886.33	33	chr6	152425547	.	C	A	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=698;ExcessHet=0;FS=3.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.598;SOR=1.106	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	18	0	1	0
chr6	152447543	152447543	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon29:c.C3605A:p.S1202Y,SYNE1:NM_182961:exon29:c.C3584A:p.S1195Y	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2820820	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0145180467099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.004	0.74150	D	0.996	0.90584	D	0.935	0.75477	D	0.000536	0.43581	D	0.103731	0.976404	0.39273	D	2.785	0.81254	M	1.27	0.36146	T	-2.1	0.69835	N	0.379	0.69387	-0.9535	0.40363	T	0.157	0.48993	T	10	0.28871864	0.46454	T	0.014518	0.34691	T	0.135	0.36572	0.404	0.43573	0.510642626009	0.50703	0.4845953077183095	0.48379	0.622627609196	0.56521	0.453581809998	0.32433	T	0.559201	0.85214	D	-0.0250806	0.48126	T	-0.273803	0.47434	T	0.950298607349396	0.63304	D	0.959604	0.84807	D	0.17474511	0.38295	0.2930341	0.55331	0.17474511	0.38295	0.2930341	0.55331	-5.062	0.37505	T	.	.	0.446	0.62616	A	.;.;.;.;.;.	.;.;.;.;.;.	4.201601	0.63402	24.6	0.99533046288519389	0.70025	0.92989	0.57045	D	AEFI	0.808182	0.73202	D	0.73503580020398	0.81929	7.638508	0.734673856840145	0.85008	8.454121	0.0323826810211463	0.14052	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	4.385000	0.59379	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.151:0.849:0.0	15.104	0.71982	689	0.59000	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5123.33	33	chr6	152447543	.	G	T	5123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=1115;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.435;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1340	18	0	1	0
chr6	152975337	152975337	T	C	exonic	FBXO5	.	nonsynonymous SNV	FBXO5:NM_001142522:exon2:c.A250G:p.T84A,FBXO5:NM_012177:exon2:c.A388G:p.T130A	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0072	0.00479233	0.0065	0.0020	0.0059	0	0.0045	0.0097	0.0110	0.0012	0.0067981	1051	154602	rs41302051	0.0089	0.0089	0.0090	0.0088	0.0107	0.0087	0.0087	0.0105	0.0104	0.0015	0.0059	0.0008	2.519e-05	0.0039	0.0019	0.0107	0.0080	0.0009	0.0067	0.0067	0.0073	0.0061	0.0112	0.0064	0.0062	0.0106	0.0103	0.0018	0	0.0079	0.0003	0	0.0030	0.0068	0.0112	0.0099	0.0008	0.816	0.02989	T	0.553	0.09621	T	0.006	0.13644	B	0.002	0.06944	B	0.528163	0.05242	N	1.259990	1	0.08975	N	0.69	0.16971	N	0.8	0.48769	T	0.06	0.06488	N	0.035	0.01004	-1.0493	0.14593	T	0.015	0.05849	T	10	0.003291428	0.00056	T	.	.	.	0.044	0.11924	.	.	0.365710854667	0.36188	0.08245482625595346	0.08180	0.310367289707	0.33356	0.275877535343	0.06923	T	0.014657	0.12435	T	-0.609412	0.00128	T	-0.637766	0.09832	T	0.00492157166012147	0.00053	T	0.435056	0.11905	T	0.04742848	0.08104	0.02651377	0.00745	0.04742848	0.08104	0.02651377	0.00745	-3.608	0.18161	T	.	.	0.060	0.01042	B	.;.	.;.	-0.268415	0.02760	0.371	0.42610954850824195	0.03153	0.10717	0.16143	N	AEFDGBHCI	0.022887	0.01203	N	-1.21231290337923	0.04819	0.2183657	-1.15751814054881	0.06634	0.3199739	0.999999999164136	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.79	0.442	0.15794	-0.549000	0.06131	0.490000	0.18893	0.580000	0.29708	0.000000	0.06391	0.003000	0.18671	0.278000	0.23967	0.4411:0.1926:0.1484:0.2179	0.733	0.00899	710	0.56735	.;.	MYCT1	Brain_Amygdala	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2002.33	33	chr6	152975337	.	T	C	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=878;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.58;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1260	18	0	1	0
chr6	154090105	154090105	T	A	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_001285527:exon1:c.T270A:p.N90K,OPRM1:NM_001285528:exon1:c.T270A:p.N90K,OPRM1:NM_000914:exon2:c.T570A:p.N190K,OPRM1:NM_001008503:exon2:c.T570A:p.N190K,OPRM1:NM_001008504:exon2:c.T570A:p.N190K,OPRM1:NM_001008505:exon2:c.T570A:p.N190K,OPRM1:NM_001145280:exon2:c.T270A:p.N90K,OPRM1:NM_001145281:exon2:c.T327A:p.N109K,OPRM1:NM_001145282:exon2:c.T570A:p.N190K,OPRM1:NM_001145283:exon2:c.T570A:p.N190K,OPRM1:NM_001145284:exon2:c.T570A:p.N190K,OPRM1:NM_001145285:exon2:c.T570A:p.N190K,OPRM1:NM_001145286:exon2:c.T570A:p.N190K,OPRM1:NM_001145287:exon2:c.T270A:p.N90K,OPRM1:NM_001285523:exon2:c.T570A:p.N190K,OPRM1:NM_001285526:exon2:c.T270A:p.N90K,OPRM1:NM_001285524:exon3:c.T849A:p.N283K,OPRM1:NM_001145279:exon4:c.T849A:p.N283K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0404713361987	0.0006	0.00139776	0.0003	0.0035	0	0	0	0	0	0	0.0002652	41	154602	rs34074916	8.209e-05	8.209e-05	8.984e-05	7.425e-05	0.0032	7.002e-05	6.552e-05	0.0027	0.0025	0.0032	0.0001	0	0	0	0	0	9.935e-05	0	0.0008	0.0008	0.0009	0.0008	0.0029	0.0007	0.0007	0.0024	0.0023	0.0029	0	0.0003	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.054	0.64786	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99812	0.44535	D	2.5	0.72771	M	-0.6	0.71662	T	-5.75	0.87760	D	0.943	0.97535	0.168	0.85372	D	0.487	0.80456	T	10	0.12481415	0.23710	T	0.040471	0.59392	D	0.574	0.82742	0.812	0.92788	0.742365421711	0.74004	0.9780023010296905	0.97791	0.351331071588	0.36974	0.64451867342	0.59206	T	0.09313	0.81383	T	-0.271549	0.11585	T	-0.163676	0.58020	T	0.194480358595853	0.20105	T	0.992826	0.97638	D	0.98309463	0.99337	0.9684548	0.99396	0.98309463	0.99337	0.9684548	0.99396	-13.325	0.91232	D	.	.	0.999	0.98051	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.753237	0.36096	20.2	0.99539767769494236	0.70398	0.90500	0.51728	D	AEFGI	0.636587	0.61568	D	0.242284737595031	0.53259	3.495576	0.0311950520762276	0.41171	2.469105	0.00116202181468056	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	-5.35	0.02488	0.101000	0.15088	-1.449000	0.05414	0.665000	0.62972	0.965000	0.33920	0.000000	0.08366	1.000000	0.97212	0.0:0.4161:0.0:0.5838	13.429	0.60493	952	0.10565	.;.;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3128.33	41	chr6	154090105	.	T	A	3128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=855;ExcessHet=0;FS=2.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=1.12;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr6	154090110	154090110	G	T	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_001285527:exon1:c.G275T:p.C92F,OPRM1:NM_001285528:exon1:c.G275T:p.C92F,OPRM1:NM_000914:exon2:c.G575T:p.C192F,OPRM1:NM_001008503:exon2:c.G575T:p.C192F,OPRM1:NM_001008504:exon2:c.G575T:p.C192F,OPRM1:NM_001008505:exon2:c.G575T:p.C192F,OPRM1:NM_001145280:exon2:c.G275T:p.C92F,OPRM1:NM_001145281:exon2:c.G332T:p.C111F,OPRM1:NM_001145282:exon2:c.G575T:p.C192F,OPRM1:NM_001145283:exon2:c.G575T:p.C192F,OPRM1:NM_001145284:exon2:c.G575T:p.C192F,OPRM1:NM_001145285:exon2:c.G575T:p.C192F,OPRM1:NM_001145286:exon2:c.G575T:p.C192F,OPRM1:NM_001145287:exon2:c.G275T:p.C92F,OPRM1:NM_001285523:exon2:c.G575T:p.C192F,OPRM1:NM_001285526:exon2:c.G275T:p.C92F,OPRM1:NM_001285524:exon3:c.G854T:p.C285F,OPRM1:NM_001145279:exon4:c.G854T:p.C285F	.	.	.	.	.	.	.	.	.	.	.	816819	not_provided|Tramadol_response	MedGen:C3661900|MedGen:CN078023	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	0.0057	0.00119808	0.0053	0.0007	0.0003	0.0001	0.0198	0.0072	0.0078	0.0009	0.0052716	815	154602	rs62638690	0.0068	0.0068	0.0070	0.0066	0.0073	0.0067	0.0066	0.0072	0.0072	0.0008	0.0009	0.0115	2.519e-05	0.0173	0.0005	0.0073	0.0068	0.0007	0.0054	0.0054	0.0050	0.0059	0.0071	0.0051	0.0050	0.0066	0.0064	0.0009	0	0.0041	0.0109	0	0.0190	0	0.0071	0.0005	0.0004	0.008	0.58626	D	0.021	0.58089	D	0.503	0.90584	P	0.384	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	1.31	0.35405	T	-7.23	0.94566	D	0.558	0.65587	-0.8932	0.48650	T	0.159	0.49245	T	10	0.012341499	0.00266	T	.	.	.	0.329	0.65126	.	.	0.862615716202	0.86128	0.9641018739265651	0.96397	0.187891431722	0.21116	0.790556371212	0.80527	T	0.102845	0.81807	T	-0.270425	0.11709	T	-0.156096	0.58702	T	0.0318147732580209	0.02276	T	0.932307	0.74741	D	0.84342426	0.86854	0.8612665	0.92265	0.84342426	0.86856	0.8612665	0.92266	-6.778	0.57003	T	.	.	0.156	0.41618	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.557013	0.71774	25.7	0.98208089301679335	0.39184	0.98779	0.86744	D	AEFGI	0.974691	0.99574	D	0.458052763096567	0.64660	4.725801	0.582554051994423	0.73690	6.011851	0.999676254430798	0.41644	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	6.690000	0.74396	11.863000	0.98373	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.071	0.97721	952	0.10565	.;.;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	1817.33	41	chr6	154090110	.	G	T	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.674;DP=848;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.158;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr6	154411047	154411047	T	C	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368119:exon8:c.A641G:p.D214G,CNKSR3:NM_001368116:exon11:c.A1184G:p.D395G,CNKSR3:NM_001368117:exon11:c.A1166G:p.D389G,CNKSR3:NM_001368118:exon11:c.A926G:p.D309G,CNKSR3:NM_173515:exon11:c.A1166G:p.D389G	.	421	1085	15	1	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0755041145947	.	0.00159744	0.0007	0	0.0002	0	0	7.497e-05	0	0.0050	0.0006598	102	154602	rs563154236	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0033	0	0.0001	7.652e-05	0	0	0.0028	7.734e-05	0.0004	0.0037	0.0002	0.0002	0.0001	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0.0002	0	0	0	0.0034	5.882e-05	0	0.0048	0.001	0.78490	D	0.026	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999899	0.50595	D	2.98	0.85499	M	0.2	0.60111	T	-5.6	0.89029	D	0.922	0.92550	-0.4090	0.71742	T	0.301	0.67186	T	10	0.026248097	0.00796	T	0.075504	0.72303	D	0.692	0.88820	.	.	0.745894655361	0.74360	0.558904291668527	0.55817	1.06557170257	0.76617	0.626045227051	0.56584	T	0.38968	0.75004	T	0.0126533	0.53386	T	0.243926	0.85333	D	0.154824153246135	0.17481	T	0.957004	0.95129	D	0.87442106	0.89214	0.89336336	0.94506	0.87442106	0.89216	0.89336336	0.94506	-5.566	0.42481	T	.	.	0.885	0.82079	P	.;.;.	.;.;.	5.278628	0.88632	29.7	0.99863363797707139	0.94184	0.90582	0.51878	D	AEFDGBCIJ	0.951105	0.96535	D	0.787104580229195	0.85293	8.532692	0.779997393179391	0.88369	9.556537	0.999999999999954	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.608884	0.39905	0	0.466023	0.07079	0	.	.	5.72	5.72	0.89380	7.621000	0.82276	7.906000	0.73790	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.006	0.80156	823	0.40596	Connector enhancer of kinase suppressor of ras 2;.;Connector enhancer of kinase suppressor of ras 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.000000	0.008772	0.000000	0.000000	0.012195	0.003788	0.02632	1794.33	34	chr6	154411047	.	T	C	1794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=788;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.922;SOR=0.568	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1449	18	0	1	0
chr6	155176873	155176873	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon9:c.G2419A:p.A807T,TIAM2:NM_001384546:exon10:c.G2419A:p.A807T,TIAM2:NM_012454:exon10:c.G2419A:p.A807T	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00412485520317	0.0007	0.00159744	0.0015	9.66e-05	0.0002	0	0	0.0006	0	0.0087	0.001326	205	154602	rs35964434	0.0009	0.0009	0.0006	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0002	6.709e-05	7.653e-05	0.0001	9.362e-05	0.0073	0.0004	0.0017	0.0092	0.0007	0.0007	0.0006	0.0008	0.0102	0.0006	0.0005	0.0079	0.0071	2.405e-05	0	0.0007	0.0003	0	9.418e-05	0.0170	0.0005	0.0019	0.0102	0.533	0.09687	T	0.675	0.06205	T	0.0	0.09854	B	0.002	0.10090	B	0.666996	0.06013	N	1.159380	1	0.08975	N	0	0.06538	N	3.65	0.05188	T	-0.3	0.11913	N	0.061	0.13911	-0.9198	0.45581	T	0.002	0.00556	T	10	0.0040363967	0.00078	T	0.004125	0.09869	T	0.011	0.01250	.	.	0.0716867268079	0.06686	0.24427617280808442	0.24341	0.212021421631	0.23700	0.231200873852	0.02058	T	0.011179	0.10005	T	-0.759165	0.00015	T	-0.857291	0.00872	T	0.0221722899805699	0.00928	T	0.506749	0.21633	T	0.030439578	0.02707	0.042848244	0.05196	0.030439578	0.02706	0.042848244	0.05196	-3.162	0.14802	T	.	.	0.063	0.01600	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.428380	0.00038	0.001	0.72413204547151	0.09965	0.02328	0.06665	N	AEFDGBHCI	0.024199	0.01460	N	-1.97331798650765	0.00241	0.01034099	-2.07623023375518	0.00210	0.009245261	0.999999999999982	0.74766	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.29	-10.6	0.00212	-1.179000	0.03200	-4.564000	0.02093	-1.347000	0.01197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1751:0.2593:0.3102:0.2554	1.430	0.02190	738	0.53389	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.005435	0.011696	0.050000	0.000000	0.009146	0.007576	0.02632	1416.33	40	chr6	155176873	.	G	A	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.538;DP=765;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.046;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	18	0	1	0
chr6	155183335	155183335	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon13:c.G2899A:p.G967R,TIAM2:NM_001384546:exon14:c.G2899A:p.G967R,TIAM2:NM_012454:exon14:c.G2899A:p.G967R	.	436	1032	51	3	0	57	0.0268741	.	.	.	721834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0029	0.00539137	0.0056	0.0004	0.0007	0.0001	0.0002	0.0036	0.0077	0.0255	0.0051681	799	154602	rs150560357	0.0038	0.0038	0.0031	0.0045	0.0242	0.0037	0.0036	0.0233	0.0230	0.0006	0.0017	0.0154	0.0001	0.0003	0.0149	0.0023	0.0049	0.0242	0.0025	0.0025	0.0023	0.0028	0.0199	0.0023	0.0023	0.0167	0.0155	0.0004	0	0.0022	0.0127	0.0002	0.0002	0.0204	0.0026	0.0038	0.0199	0.116	0.31088	T	0.539	0.10173	T	0.026	0.20732	B	0.011	0.19653	B	0.065058	0.21909	N	0.500214	1	0.08975	N	0.69	0.16971	N	1.2	0.37405	T	-1.78	0.42957	N	0.196	0.24260	-1.0216	0.23195	T	0.012	0.04700	T	10	0.0063183606	0.00143	T	.	.	.	0.111	0.31313	0.552	0.66856	0.190952846119	0.18690	0.6469867475551525	0.64633	0.263161145302	0.28869	0.396466434002	0.24577	T	0.029083	0.20920	T	-0.475935	0.00782	T	-0.4375	0.29089	T	0.0139145377650393	0.00266	T	0.673133	0.29067	T	0.12168373	0.28610	0.10275124	0.24636	0.12168373	0.28610	0.10275124	0.24635	-8.994	0.67659	D	.	.	0.143	0.35288	B	.;.;.;.;.;.	.;.;.;.;.;.	2.318200	0.29679	18.20	0.9785813049849762	0.36445	0.12320	0.17196	N	ALL	0.091712	0.18575	N	-0.651287987956593	0.17423	0.8964142	-0.546228900401239	0.20905	1.128492	0.999999875409692	0.74766	0.566229	0.32551	0	0.093493	0.02558	3	0.658983	0.55881	0	0.674467	0.66132	0	.	.	5.48	1.97	0.25278	2.769000	0.47338	7.249000	0.57924	0.676000	0.76740	0.096000	0.22710	1.000000	0.68203	0.916000	0.45140	0.1669:0.2426:0.3435:0.247	0.810	0.01021	752	0.51611	PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.000000	0.009511	0.029240	0.000000	0.008621	0.024390	0.030303	0.02632	1532.33	35	chr6	155183335	.	G	A	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.8;DP=754;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.877;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr6	155254517	155254517	C	T	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001010927:exon12:c.C1187T:p.T396M,TIAM2:NM_001384547:exon25:c.C4412T:p.T1471M,TIAM2:NM_001384546:exon26:c.C4412T:p.T1471M,TIAM2:NM_012454:exon26:c.C4412T:p.T1471M	.	432	1074	14	2	0	18	0.00831025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00933185682652	0.0011	0.000199681	0.0009	0.0002	0.0003	0	0	0.0013	0	0.0008	0.0007697	119	154602	rs139080393	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0015	0.0001	0.0001	0.0180	2.519e-05	3.744e-05	0.0029	0.0001	0.0016	0.0009	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0004	0.0003	0.0001	0	0.0003	0.0173	0	0	0.0034	0.0004	0.0009	0.0010	0.01	0.58626	D	0.054	0.48336	T	0.975	0.61118	D	0.551	0.55619	P	0.464893	0.12347	N	0.765414	1	0.08975	N	1.1	0.28011	L	3.57	0.08194	T	-1.57	0.40468	N	0.276	0.36569	-0.9851	0.33808	T	0.016	0.06473	T	10	0.0044362247	0.00091	T	0.009332	0.24483	T	0.093	0.26882	.	.	0.259761712551	0.25597	0.2741415805010745	0.27327	0.48997199046	0.47747	0.331560254097	0.15170	T	0.037947	0.24663	T	-0.46456	0.00920	T	-0.504839	0.21846	T	0.0210443043712394	0.00805	T	0.880912	0.61653	D	0.029833809	0.02543	0.05491704	0.09536	0.029833809	0.02542	0.05491704	0.09536	-8.357	0.64317	D	.	.	0.081	0.20508	B	.;.;.;.;.;.	.;.;.;.;.;.	3.255467	0.44502	21.9	0.99864795960761843	0.94276	0.18101	0.20120	N	AEFBI	0.106755	0.21290	N	-0.0461334829118635	0.39776	2.351111	-0.101884481890671	0.35315	2.041634	0.708561326192529	0.22791	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.66	4.79	0.60909	1.080000	0.30390	1.522000	0.27099	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.997000	0.79791	0.1377:0.7166:0.1458:0.0	11.199	0.47961	952	0.10565	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.002717	0.008772	0.000000	0.008621	0.006135	0.000000	0.02632	1749.33	55	chr6	155254517	.	C	T	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.582;DP=914;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.043;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	18	0	1	0
chr6	155314317	155314317	G	A	exonic	TFB1M	.	nonsynonymous SNV	TFB1M:NM_001350501:exon1:c.C112T:p.L38F,TFB1M:NM_016020:exon1:c.C112T:p.L38F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0168240580187	.	.	8.499e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs140558606	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	1.969e-05	1.968e-05	2.568e-05	1.342e-05	7.213e-05	5.23e-06	2.45e-06	1.912e-05	1.03e-05	7.213e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.96	0.99835	H	0.79	0.49068	T	-3.71	0.70674	D	0.72	0.72209	-0.1324	0.79345	T	0.361	0.72277	T	10	0.8530372	0.84489	D	0.016824	0.38254	T	0.416	0.72631	0.775	0.90080	0.72133838672	0.71888	0.8554977536275452	0.85512	0.450744263737	0.44841	0.602550506592	0.53265	T	0.281805	0.65454	T	0.0245627	0.54995	T	-0.0209659	0.68966	D	0.960970222949982	0.65950	D	0.965203	0.87125	D	0.9606156	0.97343	0.9078232	0.95533	0.9606156	0.97343	0.9078232	0.95534	-11.763	0.83677	D	.	.	0.815	0.77993	P	.	.	5.593627	0.92403	32	0.99876907393618108	0.95410	0.81684	0.41038	D	ALL	0.572053	0.57579	D	0.98318833867216	0.95205	13.40281	0.888933583647588	0.95070	13.28642	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.81	4.89	0.63387	5.064000	0.64169	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.073:0.0:0.7871:0.1399	10.042	0.41337	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2849.33	33	chr6	155314317	.	G	A	2849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=899;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.59;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr6	156778053	156778061	GCGGCGGCA	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_001374828:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_017519:exon1:c.373_381del:p.A128_A130del,ARID1B:NM_001371656:exon2:c.373_381del:p.A128_A130del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579250	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	.	0.0017	0.0251	0	0	0	0.0005	0	0.0004	0.0001537	4	26028	rs769480864	0.0006	0.0006	0.0007	0.0005	0.0169	0.0006	0.0006	0.0157	0.0152	0.0169	0.0008	3.977e-05	0.0007	8.074e-05	0.0006	0.0002	0.0010	0.0003	0.0050	0.0051	0.0048	0.0053	0.0174	0.0047	0.0046	0.0164	0.0159	0.0174	0	0.0015	0	0.0006	0	0	0.0002	0.0029	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1315.29	33	chr6	156778052	.	CGCGGCGGCA	C	1315.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=728;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.808;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	18	0	1	0
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.07895	2670.79	33	chr6	156778665	.	G	A	2670.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.35;DP=768;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.589;SOR=0.719	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1185	16	0	3	0
chr6	156778871	156778871	-	GGA	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_001374828:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_017519:exon1:c.1191_1192insGGA:p.G402_S403insG,ARID1B:NM_001371656:exon2:c.1191_1192insGGA:p.G402_S403insG	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579222	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	.	0.0015	0	0	3.84e-05	1	26028	rs748785872	9.722e-05	0.0004	8.858e-05	0.0001	0.0004	8.249e-05	7.676e-05	0.0002	0.0002	8.497e-05	0.0002	0	0.0004	0	0	8.245e-05	0.0002	0.0002	7.487e-05	8.638e-05	6.652e-05	8.362e-05	0.0012	4.11e-05	3.228e-05	0.0005	0.0004	2.494e-05	0	0	0	0.0012	0	0	4.529e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2594.78	41	chr6	156778871	.	C	CGGA	2594.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=772;ExcessHet=0.119;FS=5.513;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.1;ReadPosRankSum=0.096;SOR=0.896	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1185	18	0	1	0
chr6	156778970	156778970	-	GCA	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_001374828:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_017519:exon1:c.1290_1291insGCA:p.A433_G434insA,ARID1B:NM_001371656:exon2:c.1290_1291insGCA:p.A433_G434insA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207355	ARID1B-related_disorder|Inborn_genetic_diseases|not_provided|not_specified	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1057520094	0.0011	0.0009	0.0011	0.0011	0.0038	0.0011	0.0011	0.0022	0.0017	0.0001	0.0001	0	7.461e-05	0.0003	0.0038	0.0013	0.0009	0.0002	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0003	0	0	0	0.0002	0.0001	0.0037	0.0010	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	440.29	24	chr6	156778970	.	G	GGCA	440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=613;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-1.383;SOR=0.368	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1185	18	0	1	0
chr6	156779311	156779311	-	GGC	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_001374828:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_017519:exon1:c.1631_1632insGGC:p.A547_G548insA,ARID1B:NM_001371656:exon2:c.1631_1632insGGC:p.A547_G548insA	Coffin-Siris syndrome 1, Autosomal dominant	34	1484	3	0	1	4	0.00100976	.	.	.	579257	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367431735	8.684e-05	6.569e-05	9.187e-05	8.121e-05	8.694e-05	7.196e-05	6.635e-05	7.101e-05	6.476e-05	0	0	0	0	0	0	8.694e-05	0.0003	0	5.581e-05	5.342e-05	8.17e-05	2.861e-05	9.259e-05	2.696e-05	1.931e-05	4.019e-05	2.678e-05	5.059e-05	0	0	0	0	0	0	9.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	298.3	21	chr6	156779311	.	G	GGGC	298.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=340;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=1.41;SOR=1.371	GT:AD:DP:GQ:PL	0/1:8,8:16:99:312,0,312	18	0	1	0
chr6	157206412	157206412	C	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3141A:p.S1047R,ARID1B:NM_017519:exon19:c.C5481A:p.S1827R,ARID1B:NM_001374820:exon20:c.C5520A:p.S1840R,ARID1B:NM_001374828:exon20:c.C5640A:p.S1880R,ARID1B:NM_001371656:exon21:c.C5520A:p.S1840R	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00656902526907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09319	T	0.289	0.21078	T	0.0	0.07471	B	0.001	0.06944	B	0.002081	0.00857	N	3.836750	0.999965	0.18878	N	0.69	0.16971	N	4.79	0.02084	T	-1.05	0.28703	N	0.11	0.09631	-0.9108	0.46756	T	0.001	0.00467	T	10	0.037344426	0.02084	T	0.006569	0.17329	T	0.011	0.01250	0.185	0.09388	0.261638197198	0.25763	0.09338977125568121	0.09270	0.699661806568	0.61046	0.236031740904	0.02444	T	0.023543	0.17955	T	-0.351482	0.04634	T	-0.742656	0.03779	T	0.0620892532169819	0.07495	T	0.326667	0.07800	T	0.054411903	0.10434	0.03732615	0.03361	0.054411903	0.10434	0.03732615	0.03361	-4.048	0.24534	T	0.20972503848423527	0.28082	0.221	0.45211	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.659122	0.00212	0.003	0.30922174104273681	0.01716	0.03586	0.08806	N	AEFBI	0.068459	0.13505	N	-1.9278743827323	0.00301	0.0129083	-2.05606341435033	0.00232	0.01022868	0.99999986730321	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.06	-10.1	0.00330	-1.706000	0.01995	-13.081000	0.00481	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2593:0.1121:0.3171:0.3114	1.323	0.01993	939	0.14249	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1206.33	34	chr6	157206412	.	C	A	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=738;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	18	0	1	0
chr6	157323462	157323462	G	C	exonic	TMEM242	.	nonsynonymous SNV	TMEM242:NM_018452:exon1:c.C38G:p.S13C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00848354331856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.021	0.62352	D	0.928	0.51611	P	0.65	0.52463	P	0.490220	0.05032	N	1.367670	1	0.08975	N	2.56	0.74772	M	.	.	.	-1.71	0.40660	N	0.223	0.26957	-0.9793	0.35162	T	0.101	0.37518	T	9	0.16068646	0.30160	T	0.008484	0.22432	T	0.111	0.31313	0.493	0.58048	0.0297737177859	0.01360	0.5363064923294099	0.53555	0.4237887408	0.42824	0.504370808601	0.39437	T	0.026128	0.20499	T	-0.0934974	0.37499	T	-0.372079	0.36647	T	0.770734369754791	0.44484	D	0.615438	0.23533	T	0.22208804	0.44800	0.18158874	0.41032	0.22208804	0.44800	0.18158874	0.41032	-7.507	0.57660	D	.	.	0.108	0.22024	B	.;.	.;.	2.833751	0.37365	20.5	0.98612824044291836	0.43664	0.02339	0.06686	N	ALL	0.091819	0.18594	N	-0.280581851620264	0.29899	1.662171	-0.4990895715151	0.22179	1.203395	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.37	3.37	0.37692	2.320000	0.43456	8.830000	0.78289	0.676000	0.76740	0.015000	0.19116	1.000000	0.68203	0.019000	0.11356	0.0:0.0:1.0:0.0	10.549	0.44265	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2847.33	247	chr6	157323462	.	G	C	2847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=882;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.559;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr6	158503496	158503496	C	G	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3833G:p.T1278S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0130161994096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921610162	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	3.828e-05	0	0	0.0002	5.396e-06	1.656e-05	0	2.629e-05	2.627e-05	3.855e-05	1.346e-05	7.246e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	1.47e-05	0	0	0.201	0.20306	T	0.506	0.10967	T	0.0	0.02946	B	0.002	0.06944	B	0.000059	0.53742	D	0.171063	1	0.81001	D	0.55	0.14455	N	0.15	0.60734	T	-1.14	0.29323	N	0.311	0.35088	-0.9917	0.32167	T	0.124	0.42841	T	10	0.11100438	0.20770	T	0.013016	0.32090	T	0.138	0.37187	0.133	0.03747	0.21174354426	0.20776	0.08603178360262545	0.08537	0.217586072924	0.24282	0.357842445374	0.19071	T	0.018553	0.14935	T	-0.270901	0.11657	T	-0.445379	0.28208	T	0.0612994655966759	0.07372	T	0.724828	0.33863	T	0.14030653	0.32377	0.11612683	0.28035	0.14030653	0.32377	0.11612683	0.28034	-3.136	0.11714	T	.	.	0.084	0.09917	B	.	.	1.899125	0.24122	16.28	0.73004702761358387	0.10173	0.97999	0.78758	D	AEFDBI	0.474027	0.51846	N	-0.161493671081776	0.34746	1.987121	-0.0749962012994723	0.36427	2.119785	0.999999999953758	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	5.512000	0.66748	5.869000	0.50514	0.599000	0.40250	1.000000	0.71638	0.927000	0.28453	0.127000	0.19450	0.0:1.0:0.0:0.0	18.869	0.92277	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1823.33	127	chr6	158503496	.	C	G	1823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.006;DP=1213;ExcessHet=0;FS=2.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.577;SOR=0.473	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr6	158585341	158585341	A	C	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376856:exon2:c.A54C:p.K18N,TMEM181:NM_001376855:exon4:c.A201C:p.K67N,TMEM181:NM_001376817:exon5:c.A420C:p.K140N,TMEM181:NM_001376850:exon5:c.A297C:p.K99N,TMEM181:NM_001376852:exon5:c.A297C:p.K99N,TMEM181:NM_001376854:exon5:c.A297C:p.K99N,TMEM181:NM_020823:exon5:c.A420C:p.K140N	.	431	1069	21	1	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00439297	0.0060	0.0016	0.0040	0.0002	0.0023	0.0089	0.0090	0.0028	0.0061772	955	154602	rs41266341	0.0078	0.0078	0.0079	0.0077	0.0169	0.0077	0.0076	0.0142	0.0132	0.0010	0.0049	0.0186	2.525e-05	0.0013	0.0169	0.0087	0.0083	0.0033	0.0062	0.0062	0.0064	0.0059	0.0091	0.0058	0.0057	0.0084	0.0082	0.0015	0.0011	0.0091	0.0210	0	0.0006	0.0272	0.0090	0.0104	0.0025	0.136	0.26085	T	0.237	0.24621	T	0.788	0.44546	P	0.201	0.36881	B	0.000000	0.84330	D	0.092195	0.708289	0.33492	D	2.2	0.62015	M	.	.	.	-1.31	0.32791	N	0.684	0.69037	-1.0861	0.06209	T	0.042	0.18118	T	9	0.00878191	0.00199	T	.	.	.	0.124	0.34239	0.407	0.44066	0.0762999501168	0.06990	0.445810111811711	0.44499	0.207708327126	0.23235	0.658450484276	0.61187	T	0.013	0.11252	T	-0.504487	0.00539	T	-0.488042	0.23596	T	0.0240138043545516	0.01147	T	0.808019	0.45805	T	0.08445353	0.19549	0.10617646	0.25537	0.08445353	0.19549	0.10617646	0.25536	-8.518	0.64548	D	.	.	0.513	0.65158	A	.	.	1.649449	0.21042	15.03	0.99334652967786197	0.59934	0.86213	0.45451	D	AEFDBI	0.104897	0.20976	N	-0.348541092712033	0.27326	1.498331	-0.371911551102668	0.25838	1.423409	0.478385295646404	0.20765	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-1.12	0.09306	0.817000	0.26938	0.764000	0.21339	0.691000	0.84096	1.000000	0.71638	0.984000	0.30665	0.993000	0.69303	0.5379:0.0:0.4621:0.0	9.748	0.39624	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015641	0.015152	0.021739	0.011696	0.000000	0.025862	0.006173	0.007576	0.07895	4725.77	34	chr6	158585341	.	A	C	4725.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.874;DP=810;ExcessHet=0;FS=7.333;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.73;ReadPosRankSum=-0.139;SOR=1.158	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1258	17	1	1	0
chr6	158665469	158665469	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001242394:exon5:c.G185A:p.C62Y,SYTL3:NM_001242395:exon5:c.G185A:p.C62Y,SYTL3:NM_001009991:exon6:c.G185A:p.C62Y,SYTL3:NM_001242384:exon6:c.G185A:p.C62Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.080275381614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.51853	D	0.017	0.61642	D	0.718	0.42284	P	0.251	0.39041	B	0.033524	0.24886	N	0.499351	1	0.81001	D	1.95	0.52479	M	-1.02	0.76300	T	-1.91	0.50830	N	0.347	0.39861	-0.6429	0.63022	T	0.231	0.59632	T	10	0.2654535	0.44042	T	0.080275	0.73423	D	0.208	0.49714	0.231	0.15855	0.541149246611	0.53767	0.4335312791007779	0.43270	0.0213755055872	0.02119	0.315659284592	0.12763	T	0.260781	0.63219	T	-0.0997991	0.36457	T	-0.381131	0.35588	T	0.204832687973976	0.20679	T	0.836716	0.50835	T	0.17367785	0.38129	0.22679263	0.47668	0.17367785	0.38128	0.22679263	0.47667	-9.899	0.73389	D	.	.	0.088	0.11749	B	.;.;.;.	.;.;.;.	1.483531	0.19096	14.09	0.61535878534022548	0.06733	0.22921	0.21907	N	AEFDBI	0.232906	0.35591	N	-0.743266320162993	0.14818	0.7413381	-0.836344217620755	0.13616	0.7073187	0.999979533417288	0.50053	0.562547	0.31514	0	0.653731	0.59785	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	5.8	0.725	0.17395	0.754000	0.26056	0.427000	0.18283	-0.179000	0.10443	0.118000	0.23139	0.000000	0.08366	0.022000	0.11911	0.0:0.5043:0.4284:0.0674	13.277	0.59627	778	0.48011	.;Rab-binding domain;Rab-binding domain;Rab-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1100.33	34	chr6	158665469	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=712;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.1;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr6	158767418	158767418	G	A	exonic	EZR	.	nonsynonymous SNV	EZR:NM_003379:exon12:c.C1439T:p.P480L,EZR:NM_001111077:exon13:c.C1439T:p.P480L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0602834727591	0.0003	.	9.953e-05	0	0	0.0002	0	0.0002	0	0	8.41e-05	13	154602	rs147792801	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0	2.238e-05	0	2.519e-05	0	0	0.0003	0.0004	5.797e-05	0.0001	0.0001	0.0002	6.733e-05	0.0004	8.176e-05	6.731e-05	0.0001	9.903e-05	4.831e-05	0	6.551e-05	0	0.0004	0	0	0.0002	0	0	0.422	0.09776	T	0.285	0.21343	T	0.012	0.16265	B	0.004	0.10090	B	0.721109	0.06314	N	1.126670	1	0.81001	D	0.895	0.22405	L	-2.0	0.85393	D	-1.29	0.32387	N	0.512	0.54757	-0.7636	0.57209	T	0.442	0.77965	T	10	0.31787527	0.49192	T	0.060283	0.67949	D	0.395	0.71004	.	.	0.641892020948	0.63894	0.31948845399288806	0.31861	0.416049261514	0.42251	0.630721926689	0.57247	T	0.624858	0.88295	D	-0.186143	0.22825	T	-0.220445	0.52696	T	0.0755585968910542	0.09410	T	0.914509	0.69499	D	0.040407322	0.05761	0.06388571	0.12723	0.040407322	0.05761	0.06388571	0.12722	-5.684	0.43551	T	.	.	0.154	0.34116	B	.;.;.	.;.;.	3.184419	0.43240	21.7	0.9481250411526887	0.25574	0.93280	0.57796	D	AEFDGBHCI	0.733408	0.67986	D	-0.00360695895347605	0.41692	2.498359	0.137124453191533	0.46463	2.891925	0.999999960138585	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	5.777000	0.68584	8.656000	0.77953	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	20.177	0.98187	752	0.51611	Ezrin/radixin/moesin, C-terminal;Ezrin/radixin/moesin, C-terminal;Ezrin/radixin/moesin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1614.33	35	chr6	158767418	.	G	A	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.876;SOR=0.697	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1269	18	0	1	0
chr6	158980930	158980930	G	A	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon4:c.C841T:p.R281C,RSPH3:NM_031924:exon6:c.C703T:p.R235C	Ciliary dyskinesia, primary, 32, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	563465	Primary_ciliary_dyskinesia_32	MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.157207890493	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778108869	4.105e-06	4.104e-06	4.084e-06	4.126e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.57480	D	0.033	0.56640	D	0.998	0.73220	D	0.833	0.59784	P	0.000000	0.84330	D	0.048132	0.999982	0.54805	D	2.925	0.84406	M	1.56	0.29602	T	-7.25	0.94352	D	0.491	0.52475	-0.8842	0.49423	T	0.138	0.45564	T	10	0.58705133	0.66170	D	0.157208	0.83784	D	0.270	0.58507	0.621	0.75576	0.402471007487	0.39861	0.7296088505667317	0.72905	1.13581973304	0.78781	0.546564936638	0.45372	T	0.458877	0.79668	T	-0.0410284	0.45797	T	-0.281225	0.46680	T	0.986490964889526	0.77198	D	0.954705	0.82752	D	0.4479487	0.63911	0.394884	0.64170	0.4479487	0.63912	0.394884	0.64170	-10.406	0.76305	D	.	.	0.332	0.63061	B	.;.;.	.;.;.	4.969890	0.82239	27.7	0.99915462083022843	0.98379	0.91399	0.53455	D	AEFBI	0.636356	0.61553	D	0.518962029785914	0.68213	5.186137	0.423590809277725	0.63039	4.529879	0.0326481020757248	0.14064	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	5.118000	0.64511	8.517000	0.77410	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0796:0.0:0.9204:0.0	12.666	0.56208	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	994.33	33	chr6	158980930	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.665;SOR=0.808	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr6	158993886	158993886	T	C	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon2:c.A583G:p.R195G,RSPH3:NM_031924:exon2:c.A157G:p.R53G	Ciliary dyskinesia, primary, 32, Autosomal recessive	433	1085	4	0	0	4	0.00183993	.	.	.	691966	Inborn_genetic_diseases|not_provided|Primary_ciliary_dyskinesia_32	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.529	0.0159822372932	0.0005	0.00159744	0.0006	0.0002	8.657e-05	0	0	0.0003	0.0033	0.0032	0.0005757	89	154602	rs200757145	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0005	0.0027	0.0026	2.99e-05	2.238e-05	0	0	3.746e-05	0.0002	0.0005	0.0008	0.0030	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	7.214e-05	0	0.0003	0	0	9.418e-05	0	0.0004	0	0.0043	0.002	0.72154	D	0.01	0.76473	D	0.998	0.73220	D	0.926	0.66095	D	0.000001	0.62929	D	0.055265	0.999679	0.48205	D	3.41	0.91792	M	1.9	0.27184	T	-6.17	0.90254	D	0.773	0.77039	-0.8820	0.49601	T	0.143	0.46459	T	10	0.021150231	0.00500	T	0.015982	0.37005	T	0.529	0.80128	.	.	0.429320821379	0.42548	0.2886417912392149	0.28777	1.10514115045	0.77871	0.573301136494	0.49144	T	0.35178	0.71930	T	-0.0972401	0.36881	T	0.0844942	0.75879	D	0.189516860040544	0.19816	T	0.918808	0.71304	D	0.7110074	0.78663	0.6691139	0.80590	0.67291856	0.76590	0.63319	0.78595	-11.605	0.82874	D	.	.	0.448	0.72226	A	.;.;.	.;.;.	3.615345	0.51130	23.1	0.99625694187632297	0.75716	0.78218	0.38558	D	AEFBI	0.349225	0.44309	N	0.509804793741145	0.67666	5.112404	0.415012883713652	0.62498	4.466329	0.673191096720774	0.22397	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.67	3.2	0.35826	0.952000	0.28747	0.032000	0.13746	0.665000	0.62972	1.000000	0.71638	0.935000	0.28640	0.995000	0.73285	0.0:0.0:0.2965:0.7035	11.078	0.47259	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	41	chr6	158993886	.	T	C	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.628;DP=699;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.517;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr6	159036837	159036837	T	A	exonic	TAGAP	.	nonsynonymous SNV	TAGAP:NM_001278733:exon6:c.A997T:p.T333S,TAGAP:NM_152133:exon9:c.A652T:p.T218S,TAGAP:NM_054114:exon10:c.A1186T:p.T396S	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00596050113774	0.0042	0.00119808	0.0036	0.0008	0.0022	0.0002	0.0014	0.0057	0.0033	0.0010	0.0037063	573	154602	rs75182303	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0005	0.0025	0.0155	0	0.0009	0.0045	0.0048	0.0046	0.0009	0.0033	0.0033	0.0037	0.0028	0.0049	0.0030	0.0029	0.0045	0.0043	0.0007	0	0.0033	0.0158	0	0.0010	0.0034	0.0049	0.0066	0.0004	0.059	0.47745	T	0.099	0.38891	T	0.001	0.07471	B	0.001	0.04355	B	0.004443	0.33730	N	0.284115	1	0.08975	N	0.895	0.22405	L	2.34	0.16351	T	0.48	0.03955	N	0.025	0.00485	-0.9233	0.45098	T	0.008	0.02638	T	10	0.0041918457	0.00083	T	0.005961	0.15549	T	0.110	0.31079	.	.	0.043077524339	0.03247	0.11364073844363018	0.11292	0.289659298319	0.31376	0.312203705311	0.12240	T	0.011737	0.10428	T	-0.712963	0.00031	T	-0.79567	0.02013	T	0.0140637359905608	0.00273	T	0.477752	0.14377	T	0.033370193	0.03541	0.040683378	0.04453	0.033370193	0.03540	0.040683378	0.04452	-3.317	0.14074	T	.	.	0.084	0.15520	B	.;.	.;.	1.777217	0.22601	15.68	0.56157531756819812	0.05492	0.81047	0.40536	D	AEFDBI	0.308432	0.41502	N	-1.02813371275333	0.08023	0.3747644	-0.929897791203934	0.11391	0.5800033	0.985512938491062	0.30900	0.517182	0.21443	0	0.546412	0.12157	0	0.478664	0.07449	1	0.564101	0.26826	0	.	.	6.05	2.21	0.27042	4.091000	0.57425	2.767000	0.34644	-0.902000	0.02317	1.000000	0.71638	0.995000	0.32472	0.002000	0.04165	0.114:0.0662:0.1546:0.6652	4.45	0.11038	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.030303	0.002717	0.000000	0.050000	0.008621	0.003049	0.000000	0.02632	1885.33	34	chr6	159036837	.	T	A	1885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.978;DP=824;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.832;SOR=0.829	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1194	18	0	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A,PNLDC1:NM_173516:exon7:c.A467C:p.E156A	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.043103	0.015244	0.007576	0.05263	4469.83	45	chr6	159806021	.	A	C	4469.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.784;DP=1012;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.37;SOR=0.752	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2162,0,2196	17	0	2	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.02632	2137.33	34	chr6	160048478	.	C	G	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.85;DP=759;ExcessHet=0;FS=6.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr6	160102598	160102598	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon46:c.G6922A:p.A2308T	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0116660235017	0.0008	0.000599042	0.0003	0.0029	9.306e-05	0.0004	0	0	0	0	0.0002458	38	154602	rs73598446	7.117e-05	7.182e-05	8.85e-05	5.365e-05	0.0019	5.982e-05	5.59e-05	0.0015	0.0014	0.0019	0.0002	0	0.0003	0	0	9.893e-06	0.0002	1.16e-05	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0.0008	0	0	1.47e-05	0.0005	0	0.174	0.22486	T	0.143	0.33219	T	0.005	0.12996	B	0.004	0.10090	B	0.011801	0.29393	N	0.349790	0.866683	0.35486	D	.	.	.	3.0	0.09167	T	-1.02	0.26843	N	0.227	0.25499	-1.1010	0.03973	T	0.016	0.06664	T	10	0.007900536	0.00179	T	0.011666	0.29526	T	0.044	0.11924	.	.	0.29893580763	0.29502	0.47053593533540855	0.46972	0.38746042352	0.40026	0.36617320776	0.20281	T	0.168851	0.51601	T	-0.546459	0.00306	T	-0.563275	0.16071	T	0.0115026105574843	0.00173	T	0.760024	0.38453	T	0.026447412	0.01702	0.045356378	0.06084	0.026447412	0.01702	0.045356378	0.06084	-4.466	0.30441	T	.	.	0.134	0.29060	B	.;.	.;.	2.688496	0.35092	19.80	0.97750835134528391	0.35745	0.80260	0.39945	D	AEFBCI	0.247712	0.36824	N	-0.527470527710987	0.21196	1.123075	-0.517550136456287	0.21677	1.173759	0.943231773413331	0.27559	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.43	2.65	0.30588	2.383000	0.44008	5.106000	0.47475	-0.106000	0.15538	0.984000	0.35821	1.000000	0.68203	0.414000	0.27095	0.1369:0.0:0.733:0.1301	8.011	0.29516	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	214.33	33	chr6	160102598	.	G	A	214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.412;DP=736;ExcessHet=0;FS=78.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=-0.136;SOR=6.357	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr6	160139798	160139798	A	G	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon7:c.A1207G:p.I403V,SLC22A1:NM_153187:exon7:c.A1207G:p.I403V	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00499201	0.0030	0	8.643e-05	0	0	0.0001	0	0.0220	0.0026778	414	154602	rs188898744	0.0013	0.0014	0.0008	0.0019	0.0208	0.0013	0.0013	0.0200	0.0196	0	0.0002	0	0	1.878e-05	0.0023	8.492e-05	0.0012	0.0208	0.0008	0.0008	0.0004	0.0013	0.0237	0.0007	0.0007	0.0201	0.0188	2.41e-05	0	0.0001	0	0.0002	0	0	8.822e-05	0.0009	0.0237	0.191	0.29288	T	0.033	0.53072	D	0.001	0.11197	B	0.008	0.19048	B	0.020525	0.27020	N	0.408418	0.959119	0.26198	N	1.74	0.45129	L	-0.79	0.73739	T	-0.2	0.10136	N	0.146	0.15328	-0.9235	0.45070	T	0.135	0.44875	T	10	0.00610435	0.00137	T	.	.	.	0.110	0.31079	.	.	0.18274738541	0.17906	0.19491478112056174	0.19409	0.112006413373	0.12634	0.269620478153	0.06091	T	0.125552	0.45134	T	-0.499311	0.00577	T	-0.473746	0.25114	T	0.0218250349772305	0.00889	T	0.670533	0.27914	T	0.021282468	0.00722	0.04084549	0.04509	0.021282468	0.00722	0.04084549	0.04509	-4.049	0.24534	T	.	.	0.115	0.23465	B	.;.;.;.	.;.;.;.	0.627846	0.09964	6.719	0.73112172632511141	0.10211	0.33331	0.24802	N	AEFDBCI	0.886012	0.81703	D	-0.996703477929731	0.08673	0.4075935	-1.01720211331761	0.09407	0.4678425	0.999999739744348	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.08	-0.752	0.10514	1.525000	0.35560	-0.135000	0.11577	-0.145000	0.12313	0.054000	0.21560	0.000000	0.08366	0.003000	0.05239	0.5589:0.3502:0.091:0.0	11.101	0.47393	529	0.73716	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	2054.83	44	chr6	160139798	.	A	G	2054.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=1025;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.011;SOR=0.676	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr6	160242388	160242388	T	G	exonic	SLC22A2	.	nonsynonymous SNV	SLC22A2:NM_003058:exon8:c.A1294C:p.K432Q	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	.	0.0083	0.0103834	0.0029	0.0257	0.0016	0.0001	0	0.0004	0.0055	0.0016	0.002652	410	154602	rs8177517	0.0011	0.0011	0.0011	0.0010	0.0275	0.0010	0.0010	0.0261	0.0255	0.0275	0.0015	0	7.573e-05	0	0.0086	0.0002	0.0018	0.0019	0.0076	0.0076	0.0081	0.0070	0.0258	0.0072	0.0070	0.0245	0.0240	0.0258	0	0.0022	0.0003	0	0	0	0.0004	0.0043	0.0023	0.229	0.18371	T	0.344	0.17804	T	0.122	0.26746	B	0.292	0.40739	B	0.000560	0.43413	D	0.260422	0.803658	0.29085	N	1.415	0.35607	L	0.34	0.58176	T	-1.69	0.40274	N	0.246	0.27792	-0.9864	0.33494	T	0.108	0.39123	T	10	0.0036082268	0.00065	T	.	.	.	0.218	0.51265	.	.	0.582009938455	0.57872	0.7675702769627697	0.76706	0.104321368259	0.11798	0.275652557611	0.06894	T	0.263474	0.63515	T	-0.532431	0.00372	T	-0.517304	0.20567	T	0.0614544424701545	0.07395	T	0.245875	0.03603	T	0.35134354	0.57171	0.23501341	0.48733	0.35134354	0.57171	0.23501341	0.48732	-5.262	0.39566	T	.	.	0.209	0.43653	B	.	.	2.828157	0.37279	20.5	0.89813165739680301	0.19124	0.99355	0.94938	D	AEI	0.786612	0.71664	D	-0.146613569058772	0.35379	2.031352	-0.106282233963256	0.35136	2.029208	0.999978311216221	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	7.920000	0.86928	4.158000	0.42192	0.663000	0.56723	1.000000	0.71638	0.791000	0.26863	0.155000	0.20479	0.0:0.0:0.0:1.0	15.390	0.74455	735	0.53711	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.006793	0.008772	0.000000	0.017241	0.000000	0.000000	0.02632	2115.33	33	chr6	160242388	.	T	G	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=784;ExcessHet=0;FS=1.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.989;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1444	18	0	1	0
chr6	160594111	160594111	G	A	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon22:c.C3476T:p.T1159M	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.012638248412	8.1e-05	0.000399361	0.0004	0.0001	0	0.0026	0	8.997e-05	0.0011	0.0008	0.0003105	48	154602	rs187364344	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0031	0.0029	5.98e-05	2.236e-05	0.0010	0.0035	0	0	2.968e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0010	0.0008	0.0002	0	0.0002	0.0009	0.0019	0	0.0034	4.411e-05	0.0005	0.0015	0.012	0.54683	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	-0.38	0.13418	N	0.181	0.19593	-1.0151	0.25304	T	0.133	0.44564	T	9	0.009816796	0.00220	T	0.012638	0.31390	T	0.078	0.22779	.	.	0.134241683229	0.13084	0.33418320813489155	0.33331	0.274628364558	0.29955	0.314181536436	0.12540	T	.	.	.	-0.476656	0.00774	T	-0.463318	0.26239	T	0.0342500900458331	0.02681	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40683	B	.;.	.;.	2.964258	0.39484	21.0	0.97861238126302519	0.36465	0.02520	0.07022	N	AEFI	0.056677	0.10498	N	-0.684194803548846	0.16471	0.8395313	-0.918250851814017	0.11664	0.5955951	1.69655172839829E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	0.503	0.16145	0.901000	0.28075	3.653000	0.39383	0.347000	0.19874	0.001000	0.13787	0.999000	0.35428	0.001000	0.02609	0.0:0.2374:0.5196:0.243	4.880	0.13033	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2383.33	41	chr6	160594111	.	G	A	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=835;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=2.43;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr6	160611561	160611561	C	T	splicing	LPA	NM_005577:exon16:c.2603+1G>A	.	.	.	4	1501	16	1	0	18	0.00596026	1.0000	0.814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0010	0.0005	0	0.0002	0	0.0002	0.0034	0.0055	0.0007891	122	154602	rs559580002	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0004	0.0050	0.0048	0.0003	8.946e-05	0	5.039e-05	4.12e-05	0.0010	0.0002	0.0005	0.0054	0.0004	0.0004	0.0002	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	0.0004	0	0.0003	0	0.0004	0	0	0.0002	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.292976	0.09339	T	-0.192388	0.55367	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.066204	0.60378	24.2	0.96847937014010188	0.31331	0.69347	0.34152	D	AEFGBI	.	.	.	0.589732501926931	0.72534	5.820752	0.306737425372539	0.55935	3.756373	5.4153323545489E-5	0.04171	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.323391	0.35515	2.17	2.17	0.26736	1.944000	0.39890	7.038000	0.57326	-1.905000	0.00520	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.0:1.0:0.0:0.0	7.828	0.28490	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2348.33	105	chr6	160611561	.	C	T	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=1688;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.38;MQRankSum=1.97;QD=11.74;ReadPosRankSum=0.776;SOR=0.555	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr6	160611568	160611568	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon16:c.C2597G:p.P866R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0127548007303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	1.368e-06	1.381e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-1.36	0.33798	N	0.809	0.80473	-0.7682	0.56956	T	0.334	0.70101	T	9	0.40342203	0.55726	T	0.012755	0.31594	T	0.325	0.64725	.	.	0.270889551736	0.26708	0.09657674667738678	0.09589	0.276980395217	0.30167	0.822685778141	0.85440	D	.	.	.	0.0133556	0.53483	T	-0.218592	0.52872	T	0.762645895961664	0.44004	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.72230	P	.;.	.;.	4.367441	0.67210	25.1	0.99746773188114712	0.83927	0.81097	0.40574	D	AEFGBI	0.143923	0.26676	N	0.321782676095123	0.57267	3.893534	0.112046751455019	0.45162	2.784461	5.4153323545489E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.17	2.17	0.26736	5.375000	0.65926	10.825000	0.83858	0.340000	0.19754	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	7.828	0.28490	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	105	chr6	160611568	.	G	C	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=1627;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.53;MQRankSum=-1.45;QD=8.29;ReadPosRankSum=-0.749;SOR=0.672	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr6	160633809	160633809	-	GCTT	exonic	LPA	.	frameshift insertion	LPA:NM_005577:exon8:c.1178_1179insAAGC:p.W394Sfs*11	.	25	1478	19	0	0	19	0.00638655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0009	0.0008	0	0.0004	0.0039	0.0032	0.0001	0.0006662	103	154602	rs762351463	0.0008	0.0027	0.0008	0.0008	0.0016	0.0007	0.0007	0.0009	0.0009	0	0.0002	0.0004	0	4.749e-05	0.0016	0.0010	0.0006	0	0.0008	0.0022	0.0010	0.0006	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0007	0.0012	0	0	0.0054	0.0013	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1416.29	37	chr6	160633809	.	A	AGCTT	1416.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=918;ExcessHet=0;FS=7.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.27;MQRankSum=-1.948;QD=3.91;ReadPosRankSum=-0.58;SOR=0.938	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr6	161049582	161049582	G	T	exonic	MAP3K4	.	nonsynonymous SNV	MAP3K4:NM_001301072:exon3:c.G1310T:p.G437V,MAP3K4:NM_001363582:exon3:c.G1310T:p.G437V,MAP3K4:NM_005922:exon3:c.G1310T:p.G437V,MAP3K4:NM_006724:exon3:c.G1310T:p.G437V	.	432	1087	3	0	0	3	0.00137804	.	.	.	2295257	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0083421904374	0.0002	0.000399361	0.0005	0.0003	0.0005	0	0	0.0006	0.0022	0.0006	0.0004722	73	154602	rs146790152	0.0003	0.0003	0.0003	0.0004	0.0082	0.0003	0.0003	0.0063	0.0056	0.0002	0.0005	0.0035	0	9.36e-05	0.0082	0.0002	0.0006	0.0011	0.0003	0.0003	0.0004	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.218e-05	0	0.0004	0.0052	0	0	0	0.0003	0.0005	0.0004	0.015	0.61437	D	0.061	0.70582	T	0.943	0.54400	P	0.642	0.52168	P	0.000692	0.42383	D	0.203842	0.999973	0.53665	D	2.015	0.55033	M	2.1	0.19990	T	-3.4	0.68178	D	0.251	0.28381	-1.0975	0.04407	T	0.033	0.14029	T	10	0.005516082	0.00122	T	0.008342	0.22080	T	0.182	0.45420	.	.	0.430026717358	0.42623	0.5671631528541033	0.56644	0.691478357514	0.60598	0.371650993824	0.21069	T	0.431891	0.77985	T	-0.359019	0.04185	T	-0.366469	0.37301	T	0.0422281955076228	0.04097	T	0.965303	0.87188	D	0.19578579	0.41380	0.20183995	0.44182	0.19578579	0.41380	0.20183995	0.44181	-3.526	0.16798	T	.	.	0.162	0.40778	B	.;.;.;.	.;.;.;.	3.535498	0.49623	22.8	0.99437217962253921	0.64571	0.94960	0.62932	D	AEFBHI	0.266758	0.38361	N	0.19382095616583	0.50902	3.275949	0.162562899247517	0.47811	3.005825	0.997423829677743	0.35604	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.03	0.46115	3.385000	0.52224	3.922000	0.40477	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2657:0.0:0.7343:0.0	7.985	0.29366	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1723.33	46	chr6	161049582	.	G	T	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.954;DP=896;ExcessHet=0;FS=10.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.027;SOR=0.555	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr6	161098318	161098318	-	CTGCTGCTG	exonic	MAP3K4	.	nonframeshift insertion	MAP3K4:NM_001301072:exon17:c.3553_3554insCTGCTGCTG:p.A1195_V1196insAAA,MAP3K4:NM_005922:exon17:c.3565_3566insCTGCTGCTG:p.A1199_V1200insAAA,MAP3K4:NM_001291958:exon18:c.1924_1925insCTGCTGCTG:p.A652_V653insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763893932	5.05e-05	4.857e-05	5.105e-05	4.995e-05	9.611e-05	4.059e-05	3.719e-05	3.574e-05	3.16e-05	9.611e-05	2.385e-05	0	0	2.064e-05	0	4.616e-05	0.0002	7.383e-05	6.644e-05	6.566e-05	6.481e-05	6.815e-05	0.0002	3.553e-05	2.743e-05	7.977e-05	5.642e-05	0.0002	0	0	0	0	0	0	4.438e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	55868.5	99	chr6	161098318	.	C	CCTGCTGCTG	55868.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1561;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.44;ReadPosRankSum=-0.379;SOR=1.672	GT:AD:DP:GQ:PL	0/0:2,0:81:99:3156,3177,3300	18	0	1	0
chr6	161232203	161232203	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon2:c.C11T:p.A4V	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00224846357698	0.0014	0.00299521	0.0009	0.0037	0.0009	0	0	0.0006	0.0022	0.0009	0.0008926	138	154602	rs115239818	0.0005	0.0005	0.0005	0.0005	0.0129	0.0005	0.0005	0.0105	0.0097	0.0049	0.0011	0.0036	0	9.362e-05	0.0129	0.0002	0.0011	0.0010	0.0015	0.0015	0.0018	0.0013	0.0041	0.0014	0.0013	0.0036	0.0034	0.0041	0	0.0011	0.0052	0	0	0.0034	0.0003	0.0009	0.0006	1.0	0.03085	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.238051	0.03564	N	1.552850	1	0.23914	N	-0.125	0.04555	N	1.6	0.28604	T	0.55	0.02721	N	0.028	0.00618	-1.0133	0.25880	T	0.009	0.03183	T	10	0.002331853	0.00034	T	0.002248	0.04287	T	0.090	0.26093	.	.	0.218628672733	0.21463	0.2191698142890622	0.21832	0.735110689798	0.62940	0.249967694283	0.03764	T	0.001565	0.15285	T	-0.706801	0.00033	T	-0.78952	0.02178	T	0.00101130398277556	0.00010	T	0.564244	0.19889	T	0.011590569	0.00019	0.032735206	0.02056	0.011590569	0.00019	0.032735206	0.02056	-2.187	0.03978	T	.	.	0.058	0.05845	B	.;.;.	.;.;.	-0.178811	0.03201	0.530	0.3132802657316186	0.01760	0.00768	0.03170	N	AEFDBIJ	0.038444	0.05440	N	-1.92506932418097	0.00305	0.01308942	-1.87961326434967	0.00537	0.02381407	0.997997122038283	0.36288	0.732398	0.92422	0	0.53679	0.11191	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.38	-5.06	0.02725	-0.125000	0.10555	0.508000	0.19055	-1.462000	0.01081	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.4856:0.0:0.5144:0.0	14.933	0.70577	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.009511	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	600.33	34	chr6	161232203	.	G	A	600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.523;DP=736;ExcessHet=0;FS=10.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.954;SOR=0.053	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr6	165289918	165289918	C	A	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon7:c.G1270T:p.D424Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0118605797883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.062	0.45318	T	0.848	0.46844	P	0.177	0.35687	B	0.322666	0.04084	N	1.445350	1	0.08975	N	1.445	0.36358	L	2.65	0.12676	T	-3.76	0.71276	D	0.377	0.41853	-0.9981	0.30451	T	0.007	0.02478	T	10	0.15313843	0.28912	T	0.011861	0.29900	T	0.035	0.08770	0.273	0.22369	0.229924730088	0.22615	0.18653277934481438	0.18571	0.271202250786	0.29639	.	.	.	0.005005	0.04428	T	-0.267802	0.12004	T	-0.622455	0.10993	T	0.906179785728455	0.56012	D	0.633837	0.24812	T	0.048596933	0.08496	0.10028245	0.23972	0.048596933	0.08496	0.10028245	0.23972	-5.392	0.40842	T	.	.	0.127	0.27131	B	.	.	1.409932	0.18251	13.63	0.92510494374470287	0.21949	0.01917	0.05860	N	AEFBI	0.051282	0.09046	N	-0.813178846379686	0.12973	0.6359478	-0.936008107385585	0.11249	0.5719004	1.73950395019851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	-1.48	0.08286	0.156000	0.16200	0.166000	0.15462	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.1276:0.2574:0.1781:0.4369	1.555	0.02427	989	0.01410	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr6	165289918	.	C	A	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=710;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.727;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr6	165343438	165343438	C	T	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon19:c.G2050A:p.V684I,PDE10A:NM_001385079:exon19:c.G2848A:p.V950I,PDE10A:NM_006661:exon20:c.G2020A:p.V674I	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2126458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0237981034059	7.7e-05	0.000399361	0.0001	9.641e-05	0.0002	0.0013	0	1.501e-05	0	6.064e-05	0.0001164	18	154602	rs117826255	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	2.988e-05	8.944e-05	0	0.0042	1.873e-05	0.0002	2.338e-05	0.0001	0.0001	9.852e-05	9.843e-05	6.425e-05	0.0001	0.0012	6.004e-05	4.878e-05	0.0005	0.0003	0	0	0.0001	0	0.0012	0	0	7.35e-05	0	0.0004	.	.	.	.	.	.	0.005	0.12996	B	0.007	0.12992	B	0.000000	0.84330	D	0.054660	0.999991	0.58761	D	0.31	0.10265	N	.	.	.	.	.	.	.	.	-0.7972	0.55309	T	0.182	0.52950	T	10	0.031979084	0.01341	T	0.023798	0.46775	T	0.211	0.50185	.	.	0.33174030287	0.32783	0.512846364583235	0.51206	0.662654156328	0.58988	0.450631827116	0.32031	T	0.007103	0.57579	T	-0.413375	0.01888	T	-0.401939	0.33158	T	0.020911060436455	0.00792	T	0.941906	0.78301	D	0.3109661	0.53870	0.21458484	0.46014	0.3109661	0.53870	0.21458484	0.46013	-3.416	0.16784	T	.	.	0.083	0.12084	B	.;.;.;.;.;.	.;.;.;.;.;.	3.749008	0.53732	23.4	0.58247300718993922	0.05950	0.87838	0.47517	D	AEFBI	0.347831	0.44217	N	-0.112418634171184	0.36851	2.13577	0.108058932944534	0.44959	2.767806	0.997816752871752	0.36062	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	4.434000	0.59679	7.520000	0.59748	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.360	0.94422	992	0.01359	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr6	165343438	.	C	T	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=745;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.025;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	18	0	1	0
chr6	166929618	166929618	G	T	exonic	RNASET2	.	nonsynonymous SNV	RNASET2:NM_003730:exon9:c.C741A:p.F247L	Leukoencephalopathy, cystic, without megalencephaly, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	299596	not_provided|Cystic_leukoencephalopathy_without_megalencephaly	MedGen:C3661900|MONDO:MONDO:0013058,MedGen:C2751843,OMIM:612951,Orphanet:85136	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00986433367316	7.7e-05	0.00139776	0.0006	0	0	0.0075	0	0.0002	0	0.0001	0.0005757	89	154602	rs140357917	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0031	0.0030	2.987e-05	8.944e-05	0.0019	0.0036	1.872e-05	0	6.205e-05	0.0009	0.0003	0.0003	0.0003	0.0003	0.0003	0.0046	0.0002	0.0002	0.0032	0.0027	0	0	0	0.0020	0.0046	0	0	0.0001	0.0005	0.0008	0.35	0.14064	T	0.316	0.30926	T	0.008	0.14655	B	0.013	0.16460	B	0.096952	0.20051	N	0.515001	1	0.08975	N	1.965	0.53209	M	-0.19	0.67712	T	-3.02	0.62630	D	0.13	0.13055	-1.0111	0.26573	T	0.049	0.20711	T	10	0.0063337684	0.00143	T	0.009864	0.25698	T	0.074	0.21613	0.438	0.49157	0.402614778071	0.39880	0.6481436383893806	0.64750	0.275891738866	0.30067	0.497006416321	0.38411	T	0.025681	0.29635	T	-0.438424	0.01321	T	-0.397555	0.33668	T	0.0254510310482697	0.01332	T	0.630137	0.24490	T	0.2814514	0.51188	0.1747186	0.39887	0.26085922	0.49142	0.14827937	0.35056	-6.255	0.48365	T	.	.	0.923	0.85993	P	.;.;.;.;.	.;.;.;.;.	1.015329	0.13947	10.51	0.91048630316545287	0.20300	0.06999	0.13025	N	AEFDBCI	0.135577	0.25596	N	-1.50193667777315	0.01837	0.08055719	-1.52901293696411	0.02124	0.09720633	0.999396782484258	0.39470	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.57	-5.47	0.02396	-0.696000	0.05205	-0.004000	0.13159	-0.774000	0.03397	0.321000	0.25511	0.571000	0.25572	0.967000	0.53440	0.2023:0.0:0.6897:0.108	8.862	0.34421	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1202.33	38	chr6	166929618	.	G	T	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=722;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.139;SOR=0.59	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr6	167306009	167306009	A	G	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon5:c.A809G:p.K270R,UNC93A:NM_018974:exon6:c.A935G:p.K312R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0139672336391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.623	0.07368	T	0.001	0.07471	B	0.005	0.11217	B	0.000922	0.41028	N	0.272691	0.923849	0.28589	N	0.43	0.12624	N	-1.32	0.79761	T	-0.98	0.28703	N	0.106	0.11340	-1.0228	0.22802	T	0.105	0.38341	T	10	0.109689504	0.20472	T	0.013967	0.33765	T	0.218	0.51265	0.488	0.57257	0.485420873983	0.48173	0.35798931935092265	0.35712	0.194667570148	0.21805	0.309658646584	0.11855	T	0.003357	0.02758	T	-0.0624051	0.42530	T	-0.327417	0.41755	T	0.0822040364146233	0.10267	T	0.70423	0.31713	T	0.0343406	0.03834	0.047716647	0.06934	0.0343406	0.03834	0.047716647	0.06933	-3.882	0.26867	T	.	.	0.065	0.02038	B	.;.	.;.	0.021259	0.04431	1.162	0.28210000301379051	0.01438	0.41578	0.26688	N	AEFDGBCI	0.101414	0.20368	N	-0.907258198512308	0.10670	0.5110731	-0.858016939681972	0.13094	0.6774364	0.994259046972676	0.33555	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.73	0.921	0.18529	0.843000	0.27293	1.179000	0.24681	0.733000	0.85838	0.990000	0.36992	0.985000	0.30750	0.005000	0.06747	0.7375:0.0:0.2625:0.0	7.821	0.28450	994	0.00715	Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1317.33	34	chr6	167306009	.	A	G	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.794;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.543;SOR=0.699	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A,UNC93A:NM_018974:exon8:c.T1334C:p.V445A	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019553	0.017857	0.000000	0.033613	0.000000	0.017241	0.027972	0.027778	0.02632	54.34	43	chr6	167315412	.	T	C	54.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=924;ExcessHet=0;FS=5.829;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=57.24;MQRankSum=-7.875;QD=0.56;ReadPosRankSum=1.11;SOR=0.971	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	167340187	167340187	C	T	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.C287T:p.P96L	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00284141436187	0.0005	0.000599042	0.0007	0.0003	0.0003	0	0.0002	0.0007	0.0011	0.0016	0.000608	94	154602	rs145779681	0.0005	0.0005	0.0004	0.0006	0.0109	0.0004	0.0004	0.0088	0.0080	0.0013	0.0008	0.0003	7.557e-05	5.617e-05	0.0109	0.0003	0.0009	0.0015	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0003	0.0006	0.0004	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0004	0.0005	0.0010	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.993	0.81110	D	0.000181	0.48594	D	0.082018	0.688744	0.33305	D	2.44	0.70756	M	4.19	0.02716	T	-7.92	0.96243	D	0.232	0.26111	-1.0631	0.10997	T	0.019	0.07846	T	10	0.039141268	0.02382	T	0.002841	0.05956	T	0.114	0.32008	.	.	0.0666544352282	0.05500	0.6280410403267392	0.62737	0.547044844208	0.51677	0.410562962294	0.26535	T	0.035994	0.23935	T	-0.463602	0.00933	T	-0.468788	0.25646	T	0.267926007509232	0.23658	T	0.648535	0.25952	T	0.54346937	0.69591	0.47267935	0.69431	0.54346937	0.69592	0.47267935	0.69432	-9.877	0.73172	D	.	.	0.272	0.67047	B	.;.	.;.	2.882435	0.38144	20.7	0.99714692542139782	0.81563	0.38445	0.25990	N	AEFBI	0.226805	0.35069	N	0.102136914200955	0.46563	2.894703	-0.122173929305691	0.34497	1.985029	0.999831045253335	0.43792	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.37	3.37	0.37692	3.823000	0.55415	0.381000	0.17781	0.469000	0.21855	0.594000	0.27698	0.000000	0.08366	0.031000	0.13245	0.0:1.0:0.0:0.0	13.819	0.62800	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.016304	0.017544	0.000000	0.000000	0.003049	0.000000	0.02632	2114.33	33	chr6	167340187	.	C	T	2114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=770;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.536;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr6	167341336	167341336	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G1436A:p.R479H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000709278487277	7.7e-05	.	2.479e-05	0	8.664e-05	0	0	3.006e-05	0	0	2.59e-05	4	154602	rs138482235	8.277e-05	8.277e-05	8.576e-05	7.975e-05	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	5.974e-05	0.0003	7.652e-05	5.038e-05	1.872e-05	0	7.194e-05	0.0003	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	0.0001	0	0.0016	0	0	0	0	7.356e-05	0.0014	0	0.577	0.06049	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.601189	0.10957	N	0.803881	1	0.08975	N	0	0.06538	N	4.33	0.02363	T	-0.2	0.10136	N	0.043	0.01577	-0.9524	0.40555	T	0.002	0.00497	T	10	0.020542055	0.00475	T	7.09E-4	0.00454	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.2168972768688237	0.21605	0.147340464007	0.16621	0.206704854965	0.00679	T	0.001804	0.01223	T	-0.557214	0.00264	T	-0.801507	0.01865	T	0.00457232538610697	0.00049	T	0.417258	0.10990	T	0.0255889	0.01514	0.029868804	0.01372	0.0255889	0.01514	0.029868804	0.01372	-3.874	0.21913	T	.	.	0.066	0.02285	B	.;.	.;.	0.442227	0.08122	4.854	0.45268593979235477	0.03541	0.00697	0.02968	N	AEFGBHCI	0.039147	0.05645	N	-1.57784462824029	0.01379	0.06009875	-1.55110636466353	0.01968	0.08988614	0.980524388563841	0.30146	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.85	1.02	0.19102	0.543000	0.22945	-1.188000	0.06077	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4544:0.0:0.5456:0.0	7.431	0.26303	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2284.33	35	chr6	167341336	.	G	A	2284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=895;ExcessHet=0;FS=5.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.089;SOR=0.889	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr6	167951202	167951204	AAG	-	exonic	AFDN	.	nonframeshift deletion	AFDN:NM_001207008:exon28:c.3776_3778del:p.E1261del,AFDN:NM_001040000:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001291964:exon29:c.3704_3706del:p.E1237del,AFDN:NM_001366319:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001366320:exon29:c.3827_3829del:p.E1278del,AFDN:NM_001366321:exon29:c.3806_3808del:p.E1271del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.422e-06	1.368e-06	1.404e-06	1.44e-06	1.838e-06	2.4e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.838e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1918.29	34	chr6	167951201	.	CAAG	C	1918.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=718;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=0.108;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	18	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5720.2	79	chr6	167976202	.	G	*	5720.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.631;DP=1057;ExcessHet=2.9153;FS=4.05;InbreedingCoeff=-0.2472;MLEAC=3;MLEAF=0.083;MQ=53.24;MQRankSum=2.93;QD=10.77;ReadPosRankSum=0.818;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	15	0	3	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	5284.85	73	chr6	167976212	.	A	*	5284.85	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.889;DP=1048;ExcessHet=0.7503;FS=4.987;InbreedingCoeff=0.0409;MLEAC=3;MLEAF=0.088;MQ=51.56;MQRankSum=2.66;QD=9.99;ReadPosRankSum=0.83;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	14	0	3	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	4068.23	72	chr6	167976228	.	T	*	4068.23	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.79;DP=1040;ExcessHet=3.116;FS=7.088;InbreedingCoeff=-0.0808;MLEAC=3;MLEAF=0.088;MQ=50.27;MQRankSum=1.4;QD=7.84;ReadPosRankSum=-0.382;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	14	0	3	2
chr6	167976244	167976288	TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.365_409del:p.Q122_T137delinsP	.	435	1081	5	0	1	6	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	0.0001921	5	26028	rs773489020	0.0019	0.0015	0.0016	0.0022	0.0099	0.0018	0.0018	0.0092	0.0089	0.0002	0.0028	0.0029	0.0085	0.0063	0.0010	0.0012	0.0026	0.0099	0.0051	0.0049	0.0043	0.0059	0.0156	0.0047	0.0046	0.0117	0.0104	0.0021	0.0075	0.0079	0.0035	0.0156	0.0071	0	0.0051	0.0079	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3195.76	59	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	3195.76	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.009;DP=969;ExcessHet=0.3672;FS=2.119;InbreedingCoeff=-0.0858;MLEAC=3;MLEAF=0.079;MQ=57.47;MQRankSum=-1.437;QD=11.02;ReadPosRankSum=0.235;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3812.41	67	chr6	167976245	.	G	*	3812.41	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.134;DP=990;ExcessHet=0.6689;FS=6.063;InbreedingCoeff=0.05;MLEAC=3;MLEAF=0.079;MQ=50.69;MQRankSum=-0.375;QD=8.03;ReadPosRankSum=-0.369;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6299.23	29	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	6299.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.61;DP=951;ExcessHet=0.145;FS=3.209;InbreedingCoeff=0.2692;MLEAC=3;MLEAF=0.079;MQ=53.73;MQRankSum=-4.637;QD=11.64;ReadPosRankSum=-0.112;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:53,0:56:54:0|1:167976273_A_C:0,160,2317:167976273	11	2	5	1
chr6	167976313	167976313	T	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.A340G:p.M114V	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0018826	49	26028	rs36129172	0.0024	0.0016	0.0021	0.0028	0.0160	0.0023	0.0023	0.0148	0.0144	0.0001	0.0052	0.0046	0.0042	0.0082	0.0017	0.0016	0.0033	0.0160	0.0057	0.0064	0.0050	0.0065	0.0131	0.0053	0.0052	0.0093	0.0080	0.0021	0.0132	0.0092	0.0042	0.0131	0.0071	0	0.0062	0.0079	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.000000	0.046667	0.000000	0.000000	0.045455	0.000000	0.000000	0.07895	2469.79	40	chr6	167976313	.	T	C	2469.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.19;DP=941;ExcessHet=0.3672;FS=11.906;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.63;MQRankSum=-1.376;QD=10.65;ReadPosRankSum=1.38;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,108,1800:.	16	0	3	0
chr6	167976332	167976332	G	0	exonic	HGC6.3	.	.	.	.	448	1017	42	0	15	57	0.0202312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1448.95	41	chr6	167976332	.	G	*	1448.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.375;DP=985;ExcessHet=1.3;FS=5.804;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=54.14;MQRankSum=1.4;QD=4.27;ReadPosRankSum=-0.056;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976347	167976371	GGGGGTCATTCCCCCTGCAGTGTGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.282_306del:p.H95Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1487569600	0.0016	0.0011	0.0014	0.0019	0.0089	0.0015	0.0015	0.0082	0.0079	0.0001	0.0043	0.0034	0.0024	0.0059	0.0012	0.0011	0.0022	0.0089	0.0043	0.0047	0.0038	0.0048	0.0084	0.0040	0.0038	0.0060	0.0052	0.0017	0.0076	0.0064	0.0036	0.0084	0.0045	0	0.0047	0.0061	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	2157.63	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976347	167976372	GGGGGTCATTCCCCCTGCAGTGTGGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.281_306del:p.P94Hfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.0080	0.0033	0.0155	0.0294	0.0031	0	0.0107	0.0001537	4	26028	rs748173416	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0014	0.0013	6.092e-05	0	0.0005	0	0.0007	0	7.177e-05	0.0003	0.0018	0.0007	0.0009	0.0006	0.0009	0.0021	0.0006	0.0005	0.0010	0.0008	0.0004	0.0013	0.0016	0.0003	0.0020	0.0007	0	0.0006	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGGG	T	2157.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	18	0	1	0
chr6	167976349	167976349	G	0	exonic	HGC6.3	.	.	.	.	482	915	83	38	4	163	0.0799397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	6818.0	47	chr6	167976349	.	G	*	6818.0	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.091;DP=1029;ExcessHet=0.0665;FS=4.161;InbreedingCoeff=0.2706;MLEAC=2;MLEAF=0.059;MQ=53.61;MQRankSum=-1.638;QD=13.16;ReadPosRankSum=0.208;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:85,0:85:0:.:.:0,0,1230:.	15	0	2	2
chr6	167976380	167976415	GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.238_273del:p.P80_F91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1194754376	0.0015	0.0011	0.0013	0.0017	0.0082	0.0014	0.0014	0.0074	0.0072	0.0001	0.0031	0.0032	0.0022	0.0052	0.0006	0.0010	0.0021	0.0082	0.0038	0.0043	0.0034	0.0042	0.0072	0.0035	0.0034	0.0052	0.0045	0.0016	0.0069	0.0058	0.0027	0.0072	0.0043	0	0.0041	0.0048	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1746.75	74	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	1746.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.679;DP=1083;ExcessHet=0.3672;FS=8.824;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.2;MQRankSum=-2.093;QD=7.04;ReadPosRankSum=1.17;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	16	0	3	0
chr6	167976421	167976426	AGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.227_232del:p.V76_S78delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465520346	0.0015	0.0011	0.0013	0.0017	0.0083	0.0014	0.0014	0.0075	0.0072	0.0001	0.0042	0.0034	0.0019	0.0063	0.0006	0.0010	0.0020	0.0083	0.0037	0.0044	0.0034	0.0039	0.0072	0.0034	0.0033	0.0051	0.0043	0.0015	0.0076	0.0054	0.0034	0.0072	0.0034	0	0.0043	0.0048	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1866.2	67	chr6	167976420	.	GAGAAGA	G	1866.2	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.709;DP=1044;ExcessHet=0.4139;FS=9.076;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.088;MQ=56.37;MQRankSum=-1.778;QD=8.44;ReadPosRankSum=0.41;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	14	0	3	2
chr6	168040072	168040072	G	C	exonic	KIF25	.	nonsynonymous SNV	KIF25:NM_005355:exon6:c.G502C:p.G168R,KIF25:NM_030615:exon6:c.G502C:p.G168R	.	425	1095	1	0	1	2	0.000456413	.	.	.	2446196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00730511354048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs533395739	3.424e-06	3.42e-06	2.725e-06	4.131e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	1.657e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.495	0.07870	T	0.523	0.10354	T	0.08	0.24543	B	0.005	0.21741	B	0.018881	0.01498	N	2.405690	1	0.08975	N	-0.345	0.03330	N	-0.84	0.74265	T	0.77	0.02068	N	0.143	0.15328	-1.0844	0.06517	T	0.033	0.14029	T	10	0.08561221	0.14470	T	0.007305	0.19361	T	0.090	0.26093	0.307	0.27806	0.298403945805	0.29456	0.21205342566463076	0.21121	0.126926261757	0.14302	0.248839259148	0.03646	T	0.039395	0.25175	T	-0.168115	0.25519	T	-0.479262	0.24524	T	0.205677703022957	0.20726	T	0.327667	0.06803	T	0.10593595	0.25049	0.057272214	0.10380	0.10593595	0.25049	0.057272214	0.10380	-3.154	0.11927	T	.	.	0.105	0.33981	B	.;.;.;.	.;.;.;.	-0.488442	0.01904	0.158	0.54173170237429769	0.05085	0.01109	0.04059	N	AEFDBHCI	0.041296	0.06258	N	-1.49071392662515	0.01915	0.08404655	-1.49362128094679	0.02396	0.1101316	0.350474922411159	0.19677	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.09	-3.35	0.04620	-0.410000	0.07214	-5.265000	0.01784	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4514:0.1562:0.2646:0.1278	1.64	0.02585	.	.	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1335.83	34	chr6	168040072	.	G	C	1335.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.07;DP=730;ExcessHet=0.119;FS=2.384;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.44;SOR=0.954	GT:AD:DP:GQ:PL	0/1:38,25:63:99:625,0,902	17	0	2	0
chr6	168308990	168308990	G	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.C257T:p.P86L,DACT2:NM_214462:exon4:c.C767T:p.P256L	.	385	1135	2	0	0	2	0.000880282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00625318443322	.	0.000199681	0.0002	0	0	0	0	0	0.0062	0.0003	2.59e-05	4	154602	rs557143737	2.72e-05	2.873e-05	1.13e-05	4.354e-05	0.0004	2.022e-05	1.771e-05	0.0003	0.0002	0	8.406e-05	0	5.596e-05	0	0	1.854e-06	0	0.0004	3.282e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.104520	0.19700	N	0.464657	0.999909	0.29637	N	-1.975	0.00204	N	1.22	0.37052	T	1.89	0.00461	N	0.05	0.05287	-0.9440	0.41976	T	0.005	0.01688	T	10	0.015680939	0.00329	T	0.006253	0.16406	T	0.070	0.20419	0.336	0.32491	0.0138822411134	0.00435	0.058312770654189966	0.05772	.	.	0.259667128325	0.04852	T	0.044805	0.26927	T	-0.564216	0.00239	T	-0.752041	0.03407	T	0.00983956973385142	0.00130	T	0.470053	0.13899	T	0.028870532	0.02291	0.030175356	0.01442	0.028870532	0.02290	0.030175356	0.01442	-2.534	0.06018	T	.	.	0.072	0.04238	B	.;.	.;.	0.273434	0.06509	2.989	0.4548933884034112	0.03574	0.00719	0.03031	N	AEFDBI	.	.	.	-1.54073743668531	0.01589	0.06944841	-1.40673815638005	0.03184	0.1480131	0.95218938723758	0.28001	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-0.444	0.11634	2.548000	0.45455	3.959000	0.40733	-0.865000	0.02600	0.359000	0.25834	0.092000	0.22550	0.000000	0.00833	0.7257:0.0:0.2743:0.0	7.248	0.25307	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4072.81	37	chr6	168308990	.	G	A	4072.81	.	AC=2;AF=0.053;AN=38;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.49;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	1	0	0
chr6	168309048	168309048	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G199A:p.A67T,DACT2:NM_214462:exon4:c.G709A:p.A237T	.	416	1078	26	2	0	30	0.0137237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.0359425	0.0368	0.0120	0.0041	0.0797	0	0.0052	0	0.0609	0.0052975	819	154602	rs117378794	0.0065	0.0063	0.0050	0.0081	0.0578	0.0064	0.0064	0.0557	0.0549	0.0084	0.0047	0.0134	0.0578	0.0008	0.0128	0.0011	0.0099	0.0555	0.0088	0.0088	0.0074	0.0101	0.0689	0.0084	0.0082	0.0630	0.0607	0.0098	0	0.0084	0.0150	0.0689	0.0008	0.0170	0.0012	0.0109	0.0554	0.865	0.02639	T	0.678	0.06511	T	0.001	0.07471	B	0.003	0.08700	B	0.211105	0.16363	N	0.591328	1	0.08975	N	0.405	0.12330	N	0.99	0.41750	T	-0.13	0.08971	N	0.008	0.00226	-1.0680	0.09858	T	0.009	0.03140	T	10	0.0016542077	0.00020	T	.	.	.	0.057	0.16321	.	.	.	.	0.08330383807268534	0.08264	.	.	0.281877875328	0.07755	T	0.046	0.27172	T	-0.768857	0.00013	T	-0.8213	0.01426	T	0.0032293885992605	0.00034	T	0.230077	0.03096	T	0.018826319	0.00406	0.037838276	0.03522	0.018826319	0.00406	0.037838276	0.03521	-3.996	0.23744	T	.	.	0.064	0.02861	B	.;.	.;.	-1.500865	0.00294	0.005	0.56459774746239022	0.05557	0.00364	0.01860	N	AEFDBI	.	.	.	-2.8841353411091	0.00002	8.615512e-05	-2.90599218866823	0.00002	0.0001131657	0.999999839553939	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.48	-8.95	0.00657	-1.789000	0.01857	-5.403000	0.01731	-4.052000	0.00045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1208:0.3358:0.5434	10.167	0.42061	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027307	0.058511	0.028455	0.000000	0.000000	0.090909	0.004545	0.017544	0.02632	1939.33	37	chr6	168309048	.	C	T	1939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.773;DP=871;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	168309084	168309084	C	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G163T:p.A55S,DACT2:NM_214462:exon4:c.G673T:p.A225S	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00439297	0.0098	0	0	0	0	0	0	0.0199	0.0009767	151	154602	rs369564273	0.0010	0.0010	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0	5.694e-05	4.046e-05	0	0	0.0004	1.864e-06	0.0008	0.0173	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	4.809e-05	0	0	0	0	0	0	0	0	0.0176	0.268	0.16144	T	0.42	0.35840	T	0.275	0.31898	B	0.044	0.24394	B	0.358958	0.04292	N	1.459890	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.31	0.12099	N	0.062	0.04188	-1.0220	0.23063	T	0.017	0.07140	T	10	0.0034857988	0.00062	T	.	.	.	0.042	0.11227	0.218	0.13932	0.0297737177859	0.01360	0.13618126405041434	0.13542	.	.	0.290269672871	0.08962	T	0.047023	0.27599	T	-0.634523	0.00090	T	-0.670599	0.07570	T	0.0100813937875837	0.00135	T	0.639636	0.27564	T	0.04924017	0.08713	0.04954314	0.07593	0.04924017	0.08713	0.04954314	0.07592	-3.475	0.20223	T	.	.	0.093	0.19478	B	.;.	.;.	1.211430	0.16047	12.28	0.90269805502209099	0.19539	0.15185	0.18786	N	AEFDBI	.	.	.	-0.989779431575013	0.08822	0.4150978	-1.02391737954167	0.09260	0.459693	0.956372199199118	0.28243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-0.849	0.10181	0.179000	0.16653	-0.273000	0.10332	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.2978:0.4111:0.2911	5.265	0.14906	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2480.33	37	chr6	168309084	.	C	A	2480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=898;ExcessHet=0;FS=3.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.027;SOR=0.954	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.02632	611.33	33	chr6	168664103	.	A	G	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.835;SOR=0.769	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr6	169231333	169231333	A	G	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381940:exon14:c.T2243C:p.F748S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	36.51	.	chr6	169231333	.	A	G	36.51	.	AC=2;AF=0.077;AN=26;DP=24;ExcessHet=0;FS=0;InbreedingCoeff=0.1739;MLEAC=2;MLEAF=0.077;MQ=60;QD=18.26;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	12	1	0	6
chr6	169643735	169643735	A	C	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon12:c.T1136G:p.F379C,WDR27:NM_001202550:exon14:c.T1328G:p.F443C,WDR27:NM_182552:exon17:c.T1709G:p.F570C	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	.	0.0019	0.00199681	0.0033	0.0002	0.0007	0.0001	0.0003	0.0028	0.0058	0.0116	0.0029883	462	154602	rs201488884	0.0030	0.0030	0.0027	0.0033	0.0103	0.0029	0.0029	0.0097	0.0095	0.0003	0.0006	0.0049	2.519e-05	0.0004	0.0055	0.0028	0.0025	0.0103	0.0017	0.0017	0.0013	0.0021	0.0093	0.0015	0.0015	0.0072	0.0064	0.0002	0.0011	0.0005	0.0058	0	0.0004	0	0.0025	0.0024	0.0093	0.059	0.41915	T	0.026	0.55759	D	0.125	0.26866	B	0.054	0.25828	B	0.000722	0.42129	N	0.162064	0.962745	0.26053	N	.	.	.	0.88	0.46028	T	-5.47	0.85617	D	0.697	0.70175	-1.1034	0.03704	T	0.048	0.20632	T	10	0.0104136765	0.00232	T	.	.	.	0.223	0.52023	.	.	0.317084106153	0.31322	0.6679455183724466	0.66732	0.0347088691901	0.03653	0.491202026606	0.37605	T	.	.	.	-0.299942	0.08665	T	-0.195661	0.55057	T	0.024951494631161	0.01266	T	0.610439	0.23144	T	.	.	.	.	.	.	.	.	-10.066	0.74306	D	.	.	0.508	0.64961	A	.;.	.;.	2.575787	0.33383	19.32	0.63786348692542427	0.07317	0.80755	0.40312	D	AEFDGBI	0.219621	0.34448	N	-0.316615539543791	0.28517	1.573558	-0.296224608995896	0.28223	1.571886	0.337649845183437	0.19551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.19	4.0	0.45673	3.009000	0.49239	6.112000	0.53677	0.688000	0.82842	0.998000	0.41325	0.999000	0.35428	0.057000	0.15750	0.8452:0.1548:0.0:0.0	11.176	0.47825	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	726.33	36	chr6	169643735	.	A	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=680;ExcessHet=0;FS=6.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.538;SOR=1.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	18	0	1	0
chr6	169668011	169668011	T	G	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_182552:exon5:c.A631C:p.I211L	.	442	1058	22	0	0	22	0.01029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0050	0.00279553	0.0064	0.0006	0.0013	0.0001	0.0014	0.0081	0.0058	0.0117	0.006009	929	154602	rs41265387	0.0069	0.0069	0.0068	0.0071	0.0104	0.0068	0.0068	0.0099	0.0096	0.0009	0.0016	0.0094	5.038e-05	0.0017	0.0062	0.0076	0.0054	0.0104	0.0044	0.0044	0.0045	0.0044	0.0093	0.0041	0.0040	0.0072	0.0066	0.0010	0.0011	0.0018	0.0107	0	0.0010	0	0.0074	0.0033	0.0093	0.022	0.48642	D	0.003	0.76473	D	.	.	.	.	.	.	0.412623	0.12976	N	0.685094	0.999763	0.48888	D	.	.	.	0.25	0.59449	T	-1.59	0.38345	N	0.433	0.47208	-1.0617	0.11336	T	0.028	0.12014	T	10	0.010516435	0.00234	T	.	.	.	0.073	0.21317	.	.	0.0920862733494	0.08535	0.3853289265288596	0.38447	0.0216781632593	0.02158	0.496599763632	0.38354	T	.	.	.	-0.480738	0.00732	T	-0.453928	0.27263	T	0.0081475625995667	0.00097	T	0.471453	0.13989	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.254	0.48867	B	.	.	1.134433	0.15214	11.68	0.86944439522738426	0.16880	0.31738	0.24413	N	AEFDBI	0.084421	0.17110	N	-1.23283867193284	0.04531	0.2046774	-1.21622574625296	0.05648	0.269726	0.999285255501367	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	-3.24	0.04779	0.125000	0.15577	-2.347000	0.03869	0.663000	0.56723	0.228000	0.24622	0.000000	0.08366	0.091000	0.17840	0.1234:0.3584:0.1275:0.3907	2.582	0.04527	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2031.33	304	chr6	169668011	.	T	G	2031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=1458;ExcessHet=0;FS=5.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.079;SOR=1.062	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr6	169769580	169769580	G	A	exonic	ERMARD	.	nonsynonymous SNV	ERMARD:NM_001278532:exon11:c.G722A:p.R241H,ERMARD:NM_001278531:exon12:c.G1100A:p.R367H,ERMARD:NM_001278533:exon12:c.G1100A:p.R367H,ERMARD:NM_018341:exon12:c.G1100A:p.R367H	.	.	.	.	.	.	.	.	.	.	.	1320898	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.459	0.0298204175263	7.7e-05	.	3.415e-05	9.984e-05	0	0.0002	0	0	0.0011	0	2.59e-05	4	154602	rs367621676	2.399e-05	3.01e-05	2.454e-05	2.342e-05	0.0005	1.742e-05	1.541e-05	0.0003	0.0003	0.0005	6.777e-05	0	7.569e-05	0	0	3.601e-06	6.633e-05	3.511e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0.0010	0	0	0	0	0.0002	0.003	0.68238	D	0.007	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.000000	0.967353	0.38589	D	2.93	0.84523	M	-0.36	0.69158	T	-4.43	0.77554	D	0.817	0.84298	0.095	0.84086	D	0.496	0.80893	T	10	0.72918415	0.74180	D	0.02982	0.52254	D	0.459	0.75687	.	.	0.694078074994	0.69144	0.530233287107643	0.52947	0.272102789612	0.29719	.	.	.	0.336027	0.70558	T	0.115178	0.65885	D	0.227993	0.84569	D	0.721562325954437	0.41778	D	0.965203	0.87125	D	0.47293085	0.65471	0.27876925	0.53840	0.47293085	0.65471	0.27876925	0.53839	-11.751	0.84113	D	0.9300712053086226	0.97133	0.491	0.72524	A	.;.;.;.;.	.;.;.;.;.	4.841730	0.79050	27.0	0.99937176454051901	0.99661	0.94286	0.60684	D	AEFBI	0.548839	0.56196	D	0.774330052135983	0.84476	8.298731	0.701881672811857	0.82520	7.787737	0.999994892620418	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	6.489000	0.73548	11.465000	0.92840	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:1.0:0.0	18.705	0.91597	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1323.33	33	chr6	169769580	.	G	A	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.38;SOR=0.627	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr6	170319088	170319088	A	T	exonic	FAM120B	.	nonsynonymous SNV	FAM120B:NM_001286379:exon2:c.A1734T:p.Q578H,FAM120B:NM_001286380:exon2:c.A1767T:p.Q589H,FAM120B:NM_032448:exon2:c.A1698T:p.Q566H	.	.	.	.	.	.	.	.	.	.	.	3668433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00150823963937	.	0.000399361	0.0001	0	8.761e-05	0	0	0	0	0.0010	0.00011	17	154602	rs528688533	6.509e-05	6.635e-05	3.745e-05	9.325e-05	0.0010	5.417e-05	5.025e-05	0.0009	0.0008	0	0	0	0	0	0.0004	0	0.0001	0.0010	3.939e-05	3.937e-05	2.57e-05	5.369e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0010	0.095	0.31235	T	0.119	0.36765	T	0.003	0.11197	B	0.004	0.10090	B	0.849573	0.07049	N	1.077590	0.999999	0.31438	N	1.61	0.41143	L	3.04	0.08810	T	-0.7	0.19933	N	0.114	0.10340	-0.9231	0.45126	T	0.005	0.01797	T	10	0.010505289	0.00233	T	0.001508	0.02343	T	0.036	0.09122	0.242	0.17524	0.134241683229	0.13084	0.22447498137674154	0.22362	0.171263718839	0.19293	0.381419330835	0.22458	T	0.021497	0.16731	T	-0.638336	0.00085	T	-0.735254	0.04093	T	0.0862902924418449	0.10772	T	0.60384	0.22664	T	0.025717065	0.01542	0.032413203	0.01973	0.025717065	0.01542	0.032413203	0.01973	-6.152	0.47533	T	.	.	0.269	0.50334	B	.;.;.	.;.;.	0.965331	0.13421	9.928	0.92679072381731309	0.22164	0.14878	0.18632	N	AEFBCI	0.036160	0.04771	N	-0.940164403439938	0.09915	0.4714132	-0.991439345610756	0.09977	0.4996163	0.0825032445717062	0.15902	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.62	-2.16	0.06684	0.194000	0.16941	-1.170000	0.06127	-0.047000	0.17328	0.571000	0.27513	0.000000	0.08366	0.982000	0.59238	0.4151:0.1888:0.2103:0.1857	0.418	0.00420	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	794.33	36	chr6	170319088	.	A	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=737;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.592;SOR=0.312	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,63:63:99:1|1:170561949_GCAA_G:2628,195,0:170561949	0	12	7	0
chr6	170561958	170561958	-	CAGCAGCAGCAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAGCAGCAG:p.Q75_A76insQQQQ,TBP:NM_003194:exon3:c.222_223insCAGCAGCAGCAG:p.Q95_A96insQQQQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs775224229	0.0006	0.0006	0.0005	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	0.0005	0.0006	0.0003	0.0017	6.455e-05	0.0012	0.0004	0.0006	0.0030	0.0006	0.0006	0.0006	0.0005	0.0024	0.0005	0.0004	0.0013	0.0010	0.0005	0	0.0004	0.0009	0.0014	0	0	0.0005	0.0015	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5277.38	89	chr6	170561958	.	A	ACAGCAGCAGCAG	5277.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=3180;ExcessHet=0.7564;FS=0.379;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=14.22;ReadPosRankSum=2.19;SOR=0.734	GT:AD:DP:GQ:PL	0/0:178,0:178:99:0,120,1800	18	0	1	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	8634.26	89	chr6	170561961	.	G	*	8634.26	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.057;DP=3237;ExcessHet=0.6689;FS=1.1;InbreedingCoeff=-0.3212;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.881;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:184,0:184:0:.:.:0,0,2690:.	7	0	1	11
chr6	170561963	170561965	AGC	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	881	422	129	22	702	0.27846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	36341.4	127	chr6	170561963	.	AGC	*	36341.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.69;DP=3227;ExcessHet=0.1728;FS=1.214;InbreedingCoeff=0.042;MLEAC=1;MLEAF=0.033;MQ=59.93;MQRankSum=0;QD=24.69;ReadPosRankSum=0.599;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:56,0:123:99:0|1:170561949_GCAA_G:2150,2075,4868:170561949	14	0	1	4
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,67:94:99:1|0:170561949_GCAA_G:4722,1075,738:170561949	5	6	7	1
chr6	170561967	170561988	GCAGCAGCAGCAGCAGCAGCAG	-	exonic	TBP	.	frameshift deletion	TBP:NM_001172085:exon2:c.171_192del:p.Q57Hfs*60,TBP:NM_003194:exon3:c.231_252del:p.Q77Hfs*60	Spinocerebellar ataxia 17, Autosomal dominant	45	944	77	8	448	541	0.046946	.	.	.	3550024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0014	0.0015	0	0.0013	0.0019	0.0009	3.84e-05	1	26028	rs760551718	0.0015	0.0013	0.0013	0.0016	0.0222	0.0014	0.0014	0.0188	0.0175	0.0017	0.0035	0.0117	0.0021	0.0002	0.0222	0.0010	0.0033	0.0010	0.0025	0.0024	0.0024	0.0027	0.0067	0.0023	0.0022	0.0056	0.0052	0.0021	0	0.0067	0.0143	0.0022	0	0.0248	0.0016	0.0046	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	27708.9	128	chr6	170561966	.	AGCAGCAGCAGCAGCAGCAGCAG	A	27708.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.123;DP=2797;ExcessHet=0.463;FS=1.115;InbreedingCoeff=0.1556;MLEAC=2;MLEAF=0.053;MQ=59.93;MQRankSum=0;QD=24.59;ReadPosRankSum=3.29;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:92:99:.:.:2029,2215,4453:.	18	1	0	0
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,34:92:99:.:.:2029,0,1745:.	6	5	8	0
chr6	170584569	170584569	C	T	exonic	PDCD2	.	nonsynonymous SNV	PDCD2:NM_001199461:exon1:c.G13A:p.G5R,PDCD2:NM_001199462:exon1:c.G13A:p.G5R,PDCD2:NM_001199463:exon1:c.G13A:p.G5R,PDCD2:NM_001199464:exon1:c.G13A:p.G5R,PDCD2:NM_001363655:exon1:c.G13A:p.G5R,PDCD2:NM_002598:exon1:c.G13A:p.G5R,PDCD2:NM_144781:exon1:c.G13A:p.G5R	.	.	.	.	.	.	.	.	.	.	.	3375092	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00860162906217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1041184596	2.391e-05	3.215e-05	2.39e-05	2.393e-05	0.0001	1.638e-05	1.403e-05	5.724e-05	3.675e-05	8.718e-05	0	0	0	0	0	1.896e-05	4.434e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.471e-05	0	0	0.545	0.07330	T	0.557	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.000692	0.00666	N	6.779990	1	0.08975	N	-0.895	0.01383	N	.	.	.	0.32	0.06253	N	0.064	0.17416	-1.0560	0.12776	T	0.010	0.03582	T	8	0.0351927	0.01757	T	0.008602	0.22730	T	0.004	0.00165	0.379	0.39482	0.202086224978	0.19791	0.32737827899691674	0.32650	2.05958384172	0.94402	0.76182615757	0.76201	T	0.067119	0.33119	T	-0.285833	0.10057	T	-0.648356	0.09069	T	0.0506940029672282	0.05621	T	0.341666	0.13651	T	0.031610146	0.03031	0.06716504	0.13859	0.031610146	0.03031	0.06716504	0.13859	-4.696	0.33355	T	.	.	0.182	0.61587	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.611232	0.01541	0.100	0.81789007613783882	0.13861	0.02366	0.06737	N	ALL	0.079188	0.15990	N	-1.70622712295976	0.00820	0.03544659	-1.71325370613269	0.01080	0.04848949	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.39	-3.08	0.05022	-1.114000	0.03404	-6.530000	0.01373	-0.150000	0.12128	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.169:0.4525:0.1657:0.2129	2.998	0.05640	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	228.35	20	chr6	170584569	.	C	T	228.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=258;ExcessHet=0;FS=4.26;InbreedingCoeff=0.1733;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.54;ReadPosRankSum=-0.489;SOR=1.447	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	18	0	1	0
chr7	193399	193399	C	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C200A:p.P67H	Raine syndrome, Autosomal recessive	8	1490	23	1	0	25	0.00831947	.	.	.	274985	not_provided|Inborn_genetic_diseases|FAM20C-related_disorder|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.195	.	.	0.00119808	0.0043	0	0.0122	0	0	0.0005	0	0.0057	0.0003687	57	154602	rs538469200	0.0009	0.0009	0.0008	0.0011	0.0062	0.0009	0.0009	0.0057	0.0055	0.0002	0.0007	0.0005	0	0	0.0055	0.0007	0.0013	0.0062	0.0006	0.0006	0.0005	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	2.417e-05	0	0.0002	0	0	0.0001	0	0.0008	0.0005	0.0060	0.003	0.68238	D	0.004	0.74150	D	0.838	0.46404	P	0.339	0.42346	B	0.475723	0.12224	U	0.629044	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.74	0.41239	N	0.077	0.05162	-0.3468	0.73646	T	0.505	0.81353	D	10	0.0064647794	0.00146	T	.	.	.	0.195	0.47612	.	.	0.184605227958	0.18053	0.5066125202444535	0.50583	1.01481861233	0.74903	0.86919093132	0.92453	D	0.006706	0.06137	T	-0.340585	0.05347	T	-0.259253	0.48899	T	0.0348755269498303	0.02787	T	0.408959	0.10549	T	0.18811204	0.40296	0.17135891	0.39312	0.18811204	0.40296	0.17135891	0.39312	-5.62	0.42975	T	.	.	0.104	0.18828	B	.	.	3.137205	0.42413	21.5	0.9853014225545792	0.42582	0.53231	0.29321	D	AEFDGBCI	0.081821	0.16561	N	-0.0941850455632063	0.37647	2.193307	-0.180500173733775	0.32254	1.833197	0.999999521622467	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	2.87	2.87	0.32523	-0.674000	0.05333	3.066000	0.36180	0.496000	0.22519	0.000000	0.06391	0.054000	0.21897	0.208000	0.22126	0.0:1.0:0.0:0.0	9.426	0.37744	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003947	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023256	0.02632	635.33	33	chr7	193399	.	C	A	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.861;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	18	0	1	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	35.99	37	chr7	290724	.	A	G	35.99	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.313;DP=593;ExcessHet=0.119;FS=70.283;InbreedingCoeff=-0.0593;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=-0.271;SOR=6.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:90:.:.:0,90,1350:.	17	0	2	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,12:31:32:.:.:32,0,292:.	2	0	16	1
chr7	729707	729707	C	G	exonic	DNAAF5	.	nonsynonymous SNV	DNAAF5:NM_017802:exon2:c.C640G:p.Q214E	Ciliary dyskinesia, primary, 18, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	522790	Primary_ciliary_dyskinesia_18|DNAAF5-related_disorder|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00505424981264	0.0005	0.000599042	0.0006	0	0.0003	0	0.002	0.0009	0	6.097e-05	0.0005563	86	154602	rs149980915	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	8.961e-05	0.0003	0.0031	0	0.0011	0.0012	0.0005	0.0008	0.0001	0.0006	0.0006	0.0005	0.0006	0.0007	0.0005	0.0005	0.0005	0.0005	0	0	0.0003	0.0040	0	0.0022	0	0.0007	0	0	0.358	0.11994	T	0.026	0.55759	D	0.704	0.41950	P	0.079	0.28749	B	0.016547	0.27949	N	0.285236	0.999976	0.53665	D	.	.	.	2.46	0.14907	T	-1.5	0.36586	N	0.508	0.53972	-1.0507	0.14203	T	0.039	0.16677	T	10	0.010944217	0.00241	T	0.005054	0.12784	T	0.086	0.25016	.	.	0.0482279557977	0.04254	0.2177555565917494	0.21691	0.231817869448	0.25732	0.646623671055	0.59506	T	0.282749	0.65549	T	-0.451995	0.01099	T	-0.496149	0.22748	T	0.0336057275283351	0.02571	T	0.90111	0.65631	D	0.18240637	0.39458	0.18276554	0.41225	0.18240637	0.39457	0.18276554	0.41224	-7.37	0.56693	T	0.7898115866822996	0.86842	0.102	0.17995	B	.	.	3.557188	0.50038	22.9	0.98293824308013056	0.39973	0.87935	0.47651	D	AEFBCI	0.546127	0.56035	D	0.135585993596401	0.48131	3.029261	0.233859878836481	0.51734	3.353595	0.999999999670092	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.06	5.06	0.67838	3.302000	0.51557	5.913000	0.51050	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.434	0.90586	946	0.12043	TOG domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	37	chr7	729707	.	C	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.562;SOR=0.677	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1497	18	0	1	0
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C,SUN1:NM_001130965:exon6:c.G738T:p.W246C,SUN1:NM_001367639:exon6:c.G282T:p.W94C,SUN1:NM_001367660:exon6:c.G588T:p.W196C,SUN1:NM_001367662:exon6:c.G588T:p.W196C,SUN1:NM_001367670:exon6:c.G588T:p.W196C,SUN1:NM_001367671:exon6:c.G588T:p.W196C,SUN1:NM_001367633:exon7:c.G738T:p.W246C,SUN1:NM_001367644:exon7:c.G672T:p.W224C,SUN1:NM_001367645:exon7:c.G699T:p.W233C,SUN1:NM_001367653:exon7:c.G738T:p.W246C,SUN1:NM_001367658:exon7:c.G88T:p.A30S,SUN1:NM_001367665:exon7:c.G738T:p.W246C,SUN1:NM_001367667:exon7:c.G699T:p.W233C,SUN1:NM_001367669:exon7:c.G765T:p.W255C,SUN1:NM_001367672:exon7:c.G738T:p.W246C,SUN1:NM_001367679:exon7:c.G699T:p.W233C,SUN1:NM_001367680:exon7:c.G672T:p.W224C,SUN1:NM_001367681:exon7:c.G786T:p.W262C,SUN1:NM_001367689:exon7:c.G699T:p.W233C,SUN1:NM_001367694:exon7:c.G738T:p.W246C,SUN1:NM_001367695:exon7:c.G660T:p.W220C,SUN1:NM_001367701:exon7:c.G672T:p.W224C,SUN1:NM_001367634:exon8:c.G738T:p.W246C,SUN1:NM_001367635:exon8:c.G392T:p.G131V,SUN1:NM_001367638:exon8:c.G849T:p.W283C,SUN1:NM_001367646:exon8:c.G870T:p.W290C,SUN1:NM_001367647:exon8:c.G783T:p.W261C,SUN1:NM_001367649:exon8:c.G783T:p.W261C,SUN1:NM_001367664:exon8:c.G849T:p.W283C,SUN1:NM_001367668:exon8:c.G783T:p.W261C,SUN1:NM_001367673:exon8:c.G870T:p.W290C,SUN1:NM_001367674:exon8:c.G936T:p.W312C,SUN1:NM_001367683:exon8:c.G822T:p.W274C,SUN1:NM_001367684:exon8:c.G897T:p.W299C,SUN1:NM_001367685:exon8:c.G849T:p.W283C,SUN1:NM_001367688:exon8:c.G822T:p.W274C,SUN1:NM_001367696:exon8:c.G849T:p.W283C,SUN1:NM_001367706:exon8:c.G870T:p.W290C,SUN1:NM_001367636:exon9:c.G981T:p.W327C,SUN1:NM_001367641:exon9:c.G1020T:p.W340C,SUN1:NM_001367643:exon9:c.G933T:p.W311C,SUN1:NM_001367651:exon9:c.G1152T:p.W384C,SUN1:NM_001367655:exon9:c.G981T:p.W327C,SUN1:NM_001367666:exon9:c.G981T:p.W327C,SUN1:NM_001367677:exon9:c.G1047T:p.W349C,SUN1:NM_001367682:exon9:c.G1020T:p.W340C,SUN1:NM_001367691:exon9:c.G981T:p.W327C,SUN1:NM_001367692:exon9:c.G1047T:p.W349C,SUN1:NM_001367693:exon9:c.G933T:p.W311C,SUN1:NM_001367697:exon9:c.G933T:p.W311C,SUN1:NM_001367698:exon9:c.G1020T:p.W340C,SUN1:NM_001367678:exon10:c.G1131T:p.W377C,SUN1:NM_001367687:exon10:c.G1131T:p.W377C,SUN1:NM_001367699:exon10:c.G1131T:p.W377C,SUN1:NM_001367703:exon10:c.G1131T:p.W377C,SUN1:NM_001367705:exon10:c.G1131T:p.W377C	.	428	1011	77	6	0	89	0.0421601	.	.	.	457959	not_provided|Emery-Dreifuss_muscular_dystrophy|SUN1-related_disorder	MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022704	0.000000	0.016349	0.026471	0.050000	0.060345	0.033951	0.022727	0.02632	1260.33	38	chr7	851463	.	G	T	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.666;DP=1053;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.532;SOR=0.851	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr7	856947	856947	T	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367687:exon17:c.T1880G:p.L627R	.	1188	331	1	2	0	5	0.00749625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275559	.	.	.	.	.	.	.	.	0.0101045	263	26028	rs79768726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0077	0.0056	0.0097	0.1387	0.0072	0.0071	0.1302	0.1269	0.0002	0	0.0008	0.0037	0.1387	0.0242	0	0.0016	0.0057	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	103.93	.	chr7	856947	.	T	G	103.93	.	AC=2;AF=0.071;AN=28;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.2474;MLEAC=2;MLEAF=0.071;MQ=60;QD=25.98;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	13	1	0	5
chr7	856983	856983	C	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367687:exon17:c.C1916G:p.S639C	.	1215	306	1	0	0	1	0.00163132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275559	.	.	.	.	.	.	.	.	0.0102198	266	26028	rs77162371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0077	0.0056	0.0097	0.1394	0.0072	0.0071	0.1309	0.1276	0.0002	0	0.0008	0.0037	0.1394	0.0241	0	0.0016	0.0057	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.42	.	chr7	856983	.	C	G	75.42	.	AC=2;AF=0.083;AN=24;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=0.2852;MLEAC=2;MLEAF=0.083;MQ=60;QD=25.14;SOR=1.179	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	11	1	0	7
chr7	905094	905094	C	T	exonic	ADAP1	.	nonsynonymous SNV	ADAP1:NM_001284311:exon3:c.G182A:p.R61Q,ADAP1:NM_001284310:exon4:c.G251A:p.R84Q,ADAP1:NM_001284308:exon5:c.G500A:p.R167Q,ADAP1:NM_001284309:exon5:c.G251A:p.R84Q,ADAP1:NM_006869:exon5:c.G467A:p.R156Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0168108744763	.	.	1.671e-05	0	0	0.0001	0	1.529e-05	0	0	1.29e-05	2	154602	rs761464767	5.548e-05	5.609e-05	5.452e-05	5.645e-05	0.0003	4.549e-05	4.161e-05	6.094e-05	4.908e-05	2.987e-05	2.236e-05	0	0	0	0.0003	6.566e-05	6.627e-05	0	1.97e-05	1.97e-05	0	4.033e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.147	0.28900	T	0.144	0.33554	T	0.998	0.73220	D	0.597	0.50647	P	0.000009	0.62929	D	0.059211	0.977578	0.39765	D	2.525	0.73725	M	1.56	0.30133	T	-2.39	0.54217	N	0.771	0.78167	-0.9600	0.39181	T	0.113	0.40377	T	10	0.25373185	0.42744	T	0.016811	0.38239	T	0.219	0.51417	0.436	0.48828	0.45068843185	0.44691	0.40325897865250043	0.40241	0.551030841052	0.51957	0.692955136299	0.66130	T	0.091094	0.70033	T	-0.185313	0.22950	T	-0.334838	0.40929	T	0.387241959571838	0.28459	T	0.965103	0.87078	D	0.542928	0.69560	0.44324946	0.67547	0.542928	0.69561	0.44324946	0.67548	-12.324	0.86393	D	.	.	0.230	0.54811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.128884	0.85820	28.7	0.99913641030173828	0.98238	0.66956	0.33260	D	ALL	0.677699	0.64232	D	0.207364955575868	0.51554	3.335842	0.137634392850989	0.46491	2.894179	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	3.98	3.98	0.45383	4.733000	0.61730	7.357000	0.58325	0.599000	0.40250	0.631000	0.28008	1.000000	0.68203	0.884000	0.42379	0.0:1.0:0.0:0.0	16.279	0.82491	840	0.37365	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|ADAP, PH domain 1;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|ADAP, PH domain 1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1678.33	72	chr7	905094	.	C	T	1678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=1171;ExcessHet=0;FS=1.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-2.188;SOR=0.735	GT:AD:DP:GQ:PL	0/0:159,0:159:99:0,120,1800	18	0	1	0
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008836	0.000000	0.008264	0.009036	0.000000	0.018182	0.009494	0.007752	0.05263	635.83	35	chr7	987514	.	G	A	635.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=642;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.803;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	17	0	2	0
chr7	997651	997651	G	A	exonic	C7orf50	.	stopgain	C7orf50:NM_001134395:exon5:c.C559T:p.R187X,C7orf50:NM_001134396:exon5:c.C559T:p.R187X,C7orf50:NM_001318252:exon5:c.C559T:p.R187X,C7orf50:NM_001350968:exon5:c.C559T:p.R187X,C7orf50:NM_001350969:exon5:c.C517T:p.R173X,C7orf50:NM_032350:exon5:c.C559T:p.R187X	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	7.7e-05	.	1.038e-05	0	0	0	0	1.899e-05	0	0	6.5e-06	1	154602	rs372720975	8.584e-05	8.551e-05	9.292e-05	7.869e-05	0.0001	7.341e-05	6.842e-05	8.602e-05	8.079e-05	0	0	0	2.537e-05	0	0	0.0001	0.0001	2.329e-05	8.538e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.875e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.048423	0.23252	N	0.367616	0.905416	0.36275	D	.	.	.	.	.	.	.	.	.	0.182	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199398	0.73835	D	0.415088	0.92590	D	0.993962585926056	0.84996	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.;.	High;High;High;.;.	9.233046	0.98651	40	0.99573553567881035	0.72561	0.78250	0.38578	D	AEFDGBHCI	0.093199	0.18861	N	0.62684767401012	0.74877	6.208183	0.440905315651336	0.64134	4.66182	0.999999132368644	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.669000	0.46490	7.289000	0.58048	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.386000	0.26469	0.0:0.0:1.0:0.0	16.549	0.84306	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	683.33	36	chr7	997651	.	G	A	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=697;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.932;SOR=1.11	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1172	18	0	1	0
chr7	1058297	1058297	C	T	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.C782T:p.S261L,GPR146:NM_138445:exon2:c.C782T:p.S261L,GPR146:NM_001303474:exon3:c.C782T:p.S261L	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00499201	0.0026	0.0017	0.0019	0	0.0002	0.0026	0.0022	0.0057	0.0024709	382	154602	rs61731818	0.0025	0.0024	0.0023	0.0026	0.0222	0.0024	0.0023	0.0185	0.0172	0.0014	0.0027	0.0195	2.773e-05	2.142e-05	0.0222	0.0013	0.0042	0.0041	0.0022	0.0022	0.0021	0.0022	0.0052	0.0020	0.0019	0.0036	0.0031	0.0015	0	0.0035	0.0216	0	0	0.0170	0.0014	0.0061	0.0052	0.545	0.06691	T	0.199	0.27679	T	0.021	0.18474	B	0.004	0.10090	B	0.955972	0.08256	N	0.974748	0.999986	0.18198	N	0.41	0.12415	N	-0.61	0.71779	T	-0.42	0.18042	N	0.042	0.01498	-1.0282	0.21038	T	0.124	0.42799	T	10	0.0032946467	0.00057	T	.	.	.	0.176	0.44373	.	.	0.427713192076	0.42389	0.12384076464715456	0.12310	0.0659189846376	0.07352	0.359224975109	0.19273	T	0.02272	0.17466	T	-0.399436	0.02335	T	-0.345586	0.39710	T	0.000862943776935603	0.00008	T	0.621638	0.23898	T	0.024727002	0.01333	0.03364915	0.02295	0.024727002	0.01333	0.03364915	0.02294	-0.804	0.00806	T	.	.	0.097	0.15788	B	.;.	.;.	0.824561	0.11960	8.519	0.54683460613266677	0.05187	0.11833	0.16891	N	AEFGBI	0.090223	0.18283	N	-1.08284032548822	0.06959	0.3218808	-1.04846480435655	0.08739	0.4311509	0.999645661480633	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.11	3.12	0.34986	0.273000	0.18425	1.795000	0.28833	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.7761:0.0:0.2239	9.796	0.39901	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.010101	0.024457	0.035088	0.000000	0.000000	0.009146	0.003788	0.02632	2119.33	35	chr7	1058297	.	C	T	2119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=812;ExcessHet=0;FS=2.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.29;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	18	0	1	0
chr7	1153124	1153124	T	C	exonic	ZFAND2A	.	nonsynonymous SNV	ZFAND2A:NM_001365381:exon5:c.A290G:p.H97R,ZFAND2A:NM_001365383:exon5:c.A383G:p.H128R,ZFAND2A:NM_182491:exon5:c.A383G:p.H128R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0898503622494	.	0.000199681	0.0004	0	0	0	0	0	0	0.0027	0.0003105	48	154602	rs574864193	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0029	0	0	0	2.519e-05	0	0.0002	0	0.0002	0.0034	6.565e-05	6.561e-05	2.57e-05	0.0001	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.002	0.72154	D	0.021	0.58089	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.97	0.85306	M	0.98	0.42122	T	-7.01	0.93764	D	0.508	0.53972	-0.6455	0.62909	T	0.204	0.56114	T	9	0.026001334	0.00778	T	0.08985	0.75405	D	0.340	0.66202	0.561	0.68093	0.426670027402	0.42282	0.19224861245122402	0.19142	0.0511485948996	0.05630	0.531048297882	0.43182	T	0.262154	0.85334	T	-0.255729	0.13405	T	-0.143164	0.59842	T	0.312739883445302	0.25526	T	0.955704	0.83186	D	0.6359655	0.74616	0.60556096	0.77071	0.6359655	0.74617	0.60556096	0.77072	-14.867	0.95533	D	.	.	0.691	0.72606	P	.;.	.;.	4.098041	0.61082	24.3	0.99773966407061054	0.86174	0.91386	0.53429	D	AEFDBCI	0.478412	0.52099	N	0.205438750767469	0.51462	3.327264	0.225263740971697	0.51252	3.309461	0.999998566931739	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	5.321000	0.65627	4.743000	0.44617	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.792000	0.37394	0.0:0.0:0.0:1.0	12.485	0.55205	895	0.25842	Zinc finger, AN1-type|Zinc finger, AN1-type|Zinc finger, AN1-type;Zinc finger, AN1-type|Zinc finger, AN1-type|Zinc finger, AN1-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4926.81	41	chr7	1153124	.	T	C	4926.81	.	AC=2;AF=0.053;AN=38;DP=891;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.33;SOR=1.145	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	18	1	0	0
chr7	1155473	1155473	G	C	exonic	ZFAND2A	.	nonsynonymous SNV	ZFAND2A:NM_001365381:exon4:c.C262G:p.P88A,ZFAND2A:NM_001365383:exon4:c.C262G:p.P88A,ZFAND2A:NM_182491:exon4:c.C262G:p.P88A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00637562988035	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs766115994	1.368e-05	1.368e-05	4.085e-06	2.338e-05	0.0002	8.94e-06	7.27e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.657e-05	0.0002	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.012	0.54683	D	0.051	0.47828	T	0.149	0.44599	B	0.076	0.39904	B	0.000001	0.84330	N	0.055693	0.953841	0.37849	D	3.07	0.87108	M	0.98	0.45248	T	-5.77	0.89534	D	0.433	0.47208	-1.0094	0.27105	T	0.098	0.36625	T	10	0.16382504	0.30666	T	0.006376	0.16754	T	0.128	0.35103	0.255	0.19533	0.256283259241	0.25257	0.13559485208986327	0.13483	0.00922494675709	0.00836	0.313690006733	0.12465	T	0.088588	0.82756	T	-0.348649	0.04813	T	-0.438262	0.29005	T	0.4564089179039	0.31033	T	0.724428	0.38756	T	0.22272977	0.44879	0.15144855	0.35675	0.22272977	0.44879	0.15144855	0.35674	-6.016	0.46414	T	.	.	0.071	0.16973	B	.;.;.	.;.;.	1.735612	0.22085	15.48	0.81800427337689818	0.13866	0.94528	0.61457	D	AEFBI	0.319490	0.42288	N	-0.40408624635402	0.25326	1.373951	-0.450192920492984	0.23544	1.28446	0.99997553462215	0.50053	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	2.43	0.28797	4.691000	0.61424	5.196000	0.47916	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0806:0.2878:0.6317:0.0	8.714	0.33561	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr7	1155473	.	G	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=703;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.185;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	18	0	1	0
chr7	1233195	1233195	G	A	exonic	UNCX	.	nonsynonymous SNV	UNCX:NM_001080461:exon1:c.G178A:p.G60S	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.915632130346	.	0.000199681	0.0031	0	0	0	.	0.0018	0	0.0037	0.0002199	34	154602	rs567702156	0.0006	0.0006	0.0005	0.0007	0.0071	0.0006	0.0006	0.0051	0.0044	0.0002	0.0003	8.834e-05	0	3.05e-05	0.0071	0.0005	0.0008	0.0029	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0003	0.0021	0.0017	4.83e-05	0	0.0001	0.0006	0	0	0.0069	0.0006	0.0024	0.0033	0.012	0.54683	D	0.095	0.39492	T	0.999	0.77913	D	0.948	0.68536	D	0.000000	0.84330	U	0.000000	0.970829	0.38826	D	1.195	0.30194	L	-2.72	0.90622	D	-1.75	0.41428	N	0.159	0.16586	0.557	0.91325	D	0.727	0.90669	D	10	0.018242747	0.00395	T	0.915632	0.99374	D	0.541	0.80842	.	.	0.644124591191	0.64118	0.6239990076041725	0.62332	.	.	0.937994062901	0.99377	D	0.108864	0.42226	T	-0.290568	0.09580	T	-0.193835	0.55230	T	0.0498748511758224	0.05478	T	0.881012	0.60027	D	0.31908193	0.54562	0.39508325	0.64185	0.31908193	0.54562	0.39508325	0.64185	-8.085	0.61648	D	.	.	0.135	0.29228	B	.	.	2.962447	0.39457	21.0	0.99368469354013367	0.61326	0.62402	0.31771	D	AEFDGBHCI	0.233665	0.35655	N	0.28389507593399	0.55330	3.697	0.203907271872052	0.50064	3.202416	0.999998555928271	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.78	2.78	0.31702	2.044000	0.40863	7.570000	0.60688	0.468000	0.21784	0.999000	0.42656	1.000000	0.68203	0.801000	0.37776	0.0:0.0:1.0:0.0	12.434	0.54927	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	628.33	20	chr7	1233195	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-0.147;SOR=0.906	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	18	0	1	0
chr7	1236463	1236463	T	G	exonic	UNCX	.	nonsynonymous SNV	UNCX:NM_001080461:exon3:c.T1082G:p.F361C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	0.739850219086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1037485840	8.947e-06	1.026e-05	9.631e-06	8.244e-06	1.003e-05	4.8e-06	3.51e-06	5.07e-06	3.7e-06	0	0	0	0	0	0	1.003e-05	2.054e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.17	0.30436	T	0.947	0.53479	P	0.322	0.41795	B	.	.	.	.	0.988068	0.24451	N	1.39	0.34934	L	-3.29	0.93740	D	-1.76	0.41618	N	0.377	0.41853	-0.2118	0.77367	T	0.601	0.85821	D	9	0.39762574	0.55340	T	0.73985	0.97915	D	0.450	0.75074	0.455	0.51938	0.562243038683	0.55887	0.38356013354928886	0.38271	.	.	0.932374715805	0.99116	D	0.218564	0.58132	T	0.107286	0.65069	D	-0.0836679	0.64635	T	0.207260893564138	0.20809	T	0.467953	0.13790	T	0.20600918	0.42761	0.24071789	0.49452	0.20600918	0.42761	0.24071789	0.49451	-3.817	0.21059	T	.	.	0.763	0.75626	P	.	.	3.546609	0.49836	22.8	0.82636086648561102	0.14295	0.84430	0.43512	D	AEFDBHCI	0.069260	0.13700	N	-0.0986167030319703	0.37452	2.17919	-0.124445878886629	0.34406	1.978821	0.895248652873399	0.25949	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.17	1.96	0.25203	0.914000	0.28246	5.618000	0.49075	0.470000	0.21925	0.779000	0.29461	1.000000	0.68203	0.745000	0.35611	0.211:0.0:0.0:0.789	6.725	0.22537	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	33	chr7	1236463	.	T	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=1.08;SOR=0.712	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1344	18	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07895	5149.79	35	chr7	1434651	.	T	G	5149.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=1028;ExcessHet=0.3672;FS=0.526;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.364;SOR=0.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	16	0	3	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.02632	962.33	33	chr7	1440649	.	C	T	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.637;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.506;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr7	1478782	1478782	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon32:c.G4433A:p.R1478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.019796892649	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318813769	6.893e-07	6.84e-07	1.37e-06	0	9.026e-07	0	0	.	.	0	0	0	0	0	0	9.026e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.758	0.03502	T	0.624	0.07342	T	0.001	0.07471	B	0.001	0.04355	B	0.420578	0.12876	N	0.757929	0.999994	0.08975	N	-0.55	0.02420	N	0.92	0.44461	T	0.3	0.04091	N	0.061	0.03283	-0.9873	0.33273	T	0.034	0.14596	T	10	0.037836432	0.02163	T	0.019797	0.42253	T	0.025	0.05312	0.25	0.18757	0.112648838833	0.10856	0.07448366952238444	0.07384	.	.	0.285554051399	0.08279	T	0.059004	0.30997	T	-0.360032	0.04128	T	-0.754937	0.03297	T	0.0149205431515714	0.00318	T	0.685131	0.29365	T	0.028371183	0.02164	0.030504001	0.01515	0.028371183	0.02164	0.030504001	0.01514	-3.123	0.11563	T	.	.	0.068	0.02733	B	.	.	0.178959	0.05669	2.116	0.73543334598543642	0.10366	0.22514	0.21772	N	AEFBCI	0.049468	0.08550	N	-1.60105261247483	0.01259	0.05479057	-1.54819720292841	0.01988	0.09083218	0.359721886896701	0.19765	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	-3.81	0.04013	0.275000	0.18461	0.134000	0.15084	-0.892000	0.02379	0.926000	0.32145	0.983000	0.30585	0.023000	0.12082	0.1438:0.5319:0.0:0.3242	7.035	0.24164	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	36	chr7	1478782	.	C	T	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=727;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.59;ReadPosRankSum=-0.436;SOR=0.746	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1257	18	0	1	0
chr7	1479552	1479552	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon31:c.G4207A:p.V1403M	.	396	1116	10	0	0	10	0.0044603	.	.	.	2828190	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.106	0.082874075844	0.0004	0.00159744	0.0025	0.0008	0.0020	0	0	0.0047	0	0.0012	0.0007697	119	154602	rs191952781	0.0008	0.0008	0.0007	0.0008	0.0082	0.0007	0.0007	0.0063	0.0057	0.0003	0.0012	0.0104	0	2.182e-05	0.0082	0.0005	0.0020	0.0012	0.0020	0.0020	0.0018	0.0021	0.0023	0.0018	0.0017	0.0013	0.0011	0.0002	0.1663	0.0018	0.0107	0	0	0.0170	0.0008	0.0038	0.0023	0.222	0.18823	T	0.124	0.35455	T	0.666	0.41077	P	0.082	0.29098	B	0.010786	0.29783	N	0.340767	1	0.08975	N	2.24	0.63355	M	-0.24	0.66834	T	-0.5	0.15782	N	0.157	0.16308	-0.7789	0.56364	T	0.202	0.55891	T	10	0.0047464967	0.00100	T	0.082874	0.73994	D	0.106	0.30130	.	.	0.524792858863	0.52124	0.22470879977089406	0.22385	.	.	0.48328179121	0.36508	T	0.105403	0.41585	T	-0.384247	0.02928	T	-0.375161	0.36287	T	0.0174562962045613	0.00482	T	0.839216	0.51320	T	0.0634407	0.13360	0.048106782	0.07077	0.0634407	0.13359	0.048106782	0.07076	-5.243	0.39376	T	.	.	0.114	0.22537	B	.	.	1.863536	0.23674	16.11	0.9119922908941871	0.20454	0.38083	0.25908	N	AEFDBCI	0.170408	0.29732	N	-0.185346868024771	0.33745	1.917935	-0.19531124587394	0.31709	1.797022	0.999995650684902	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	1.448000	0.34723	1.028000	0.23458	0.597000	0.34315	0.042000	0.21073	0.471000	0.25053	0.388000	0.26514	0.0:0.8551:0.1449:0.0	14.779	0.69375	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008763	0.015789	0.016575	0.000000	0.000000	0.000000	0.006369	0.000000	0.02632	704.33	34	chr7	1479552	.	C	T	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.558;SOR=0.707	GT:AD:DP:GQ:PL	0/1:29,27:56:99:718,0,765	18	0	1	0
chr7	1547024	1547024	-	CCA	exonic	TMEM184A	.	nonframeshift insertion	TMEM184A:NM_001097620:exon9:c.1169_1170insTGG:p.G392_S393insG	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4402	.	0.0006	0	0.0003	0	0	0.0010	0.0025	6.193e-05	0.000414	64	154602	rs747205009	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.985e-05	0.0002	3.844e-05	0	2.134e-05	0.0006	0.0006	0.0004	0.0002	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	9.662e-05	0	0.0007	0	0	0	0.0032	0.0009	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2110.29	59	chr7	1547024	.	G	GCCA	2110.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=1305;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=-1.223;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	18	0	1	0
chr7	1547027	1547027	-	CC	exonic	TMEM184A	.	frameshift insertion	TMEM184A:NM_001097620:exon9:c.1166_1167insGG:p.S390Afs*19	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.982e-05	0	0	0	0	3.711e-05	0	0	1.29e-05	2	154602	.	5.439e-05	6.432e-05	4.11e-05	6.781e-05	0.0012	4.439e-05	4.108e-05	0.0005	0.0004	0	4.487e-05	3.843e-05	0	4.222e-05	0.0012	4.233e-05	9.987e-05	0.0002	1.315e-05	1.314e-05	2.571e-05	0	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1085.29	41	chr7	1547027	.	G	GCC	1085.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=874;ExcessHet=0;FS=7.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.31;SOR=0.45	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	18	0	1	0
chr7	1547030	1547030	-	A	exonic	TMEM184A	.	frameshift insertion	TMEM184A:NM_001097620:exon9:c.1163_1164insT:p.S390Qfs*34	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.774e-05	0	0	0	0	3.254e-05	0	0	1.29e-05	2	154602	rs777693281	5.229e-05	5.404e-05	3.834e-05	6.639e-05	0.0012	4.283e-05	3.911e-05	0.0005	0.0004	0	4.486e-05	3.841e-05	0	0	0.0012	4.141e-05	9.982e-05	0.0002	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1150.29	41	chr7	1547030	.	G	GA	1150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.293;DP=855;ExcessHet=0;FS=7.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.26;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	18	0	1	0
chr7	1745417	1745417	G	A	exonic	ELFN1	.	nonsynonymous SNV	ELFN1:NM_001128636:exon3:c.G821A:p.R274H	.	331	1189	2	0	0	2	0.000840336	.	.	.	2388603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0403817579059	.	.	8.22e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs774216724	1.587e-05	2.121e-05	1.709e-05	1.461e-05	0.0002	1.039e-05	8.87e-06	0.0001	7.289e-05	0.0002	0	0	0	0	0	8.348e-06	1.729e-05	6.319e-05	5.913e-05	5.91e-05	5.138e-05	6.724e-05	0.0002	3.077e-05	2.21e-05	9.564e-05	6.962e-05	0.0002	0	0	0	0	0	0.0032	0	0	0	0.306	0.14207	T	0.575	0.08654	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.24	0.59583	T	-0.5	0.15782	N	0.088	0.06587	.	.	.	.	.	.	.	0.04155159	0.02820	T	0.040382	0.59348	D	.	.	.	.	0.274431252636	0.27063	0.2819362476569618	0.28106	0.303687909932	0.32695	0.718763172626	0.69866	T	0.003841	0.03252	T	-0.212178	0.19072	T	-0.542556	0.18046	T	.	.	.	0.487251	0.14908	T	0.023860931	0.01163	0.024530172	0.00474	0.023860931	0.01163	0.024530172	0.00474	-4.622	0.32447	T	.	.	0.072	0.04159	B	.;.	.;.	0.892256	0.12656	9.182	0.9565263621958362	0.27468	0.04939	0.10698	N	AEFDGBI	0.071495	0.14234	N	.	.	.	.	.	.	0.00386301190670488	0.10312	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.08	1.57	0.22490	0.316000	0.19217	0.651000	0.20416	0.586000	0.30580	0.014000	0.18986	0.066000	0.22130	0.009000	0.08673	0.1891:0.2209:0.59:0.0	4.026	0.09174	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2185.33	34	chr7	1745417	.	G	A	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=794;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.476;SOR=0.914	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1384	18	0	1	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R,BRAT1:NM_001350626:exon7:c.T962G:p.L321R,BRAT1:NM_152743:exon7:c.T962G:p.L321R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	YES	363971	Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures|not_provided|BRAT1-related_disorder	MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008089	0.000000	0.013699	0.005988	0.000000	0.000000	0.018293	0.003788	0.05263	4751.81	39	chr7	2542173	.	A	C	4751.81	.	AC=2;AF=0.053;AN=38;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.07;SOR=1.008	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	18	1	0	0
chr7	2543630	2543630	C	T	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon4:c.G238A:p.A80T,BRAT1:NM_001350626:exon5:c.G763A:p.A255T,BRAT1:NM_152743:exon5:c.G763A:p.A255T	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	561538	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.178525869879	0.0002	.	7.585e-05	0	0	0.0001	0	0.0001	0	0	9.06e-05	14	154602	rs149503475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	3.174e-05	2.735e-05	0	5.224e-05	0	0	0.0002	0.0001	1.332e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0.0002	0	0	0.0002	0	0	0.159	0.23813	T	0.421	0.14075	T	0.975	0.58077	D	0.234	0.38393	B	0.001362	0.39242	N	0.291462	0.998198	0.22299	N	2.1	0.58353	M	-2.73	0.90679	D	-1.19	0.30346	N	0.31	0.34981	-0.1601	0.78668	T	0.618	0.86526	D	10	0.17944443	0.33079	T	0.178526	0.85362	D	0.331	0.65325	.	.	0.801641172427	0.79978	0.13821516321443816	0.13745	0.0566205886456	0.06256	0.448053598404	0.31678	T	0.00557	0.05022	T	-0.154565	0.27601	T	-0.204752	0.54195	T	0.050225732685094	0.05539	T	0.727427	0.34191	T	0.039516944	0.05469	0.07503676	0.16476	0.039516944	0.05469	0.07503676	0.16476	-3.924	0.22662	T	0.3969909773553774	0.48938	0.122	0.25592	B	.	.	1.255168	0.16525	12.59	0.98396296422234775	0.41020	0.16500	0.19418	N	AEFDGBCI	0.056276	0.10389	N	-0.296243763135989	0.29293	1.623187	-0.422651378114572	0.24334	1.331952	0.997271251342092	0.35446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	3.92	0.44525	0.439000	0.21293	2.549000	0.33255	0.599000	0.40250	0.006000	0.17386	0.990000	0.31317	0.019000	0.11356	0.0:0.8982:0.0:0.1018	12.191	0.53582	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	33	chr7	2543630	.	C	T	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=939;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.102;SOR=0.802	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1308	18	0	1	0
chr7	2590010	2590010	G	A	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon12:c.G953A:p.R318Q,IQCE:NM_001287502:exon12:c.G953A:p.R318Q,IQCE:NM_001287500:exon13:c.G1100A:p.R367Q,IQCE:NM_001287499:exon14:c.G1148A:p.R383Q,IQCE:NM_152558:exon14:c.G1148A:p.R383Q	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00509927072239	.	0.000798722	0.0008	0	0.0011	0.0002	0	0.0002	0.0011	0.0039	0.0006274	97	154602	rs180961841	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0030	0	0.0003	7.654e-05	0.0003	0	0.0012	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.405e-05	0	0	0	0.0006	0	0	0.0001	0.0005	0.0039	0.114	0.39820	T	0.284	0.42086	T	0.967	0.56408	D	0.433	0.45477	B	0.119803	0.02715	N	1.816500	1	0.08975	N	0.895	0.22405	L	2.76	0.11730	T	-0.32	0.12283	N	0.103	0.13055	-0.9934	0.31722	T	0.029	0.12409	T	10	0.0054558516	0.00120	T	0.005099	0.12939	T	0.061	0.17616	0.234	0.16305	0.269111216191	0.26524	0.14638195126359294	0.14560	0.143833080321	0.16248	0.269725799561	0.06105	T	0.00786	0.17650	T	-0.620617	0.00109	T	-0.666355	0.07844	T	0.0229057217034771	0.01012	T	0.664534	0.33152	T	0.02123664	0.00716	0.029419823	0.01278	0.01757592	0.00284	0.026376786	0.00724	-2.692	0.07847	T	.	.	0.071	0.07793	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.406972	0.07781	4.467	0.94562809698033379	0.25090	0.00777	0.03195	N	AEFDGBI	0.031807	0.03473	N	-0.990087857219991	0.08814	0.4147551	-1.18800043518797	0.06110	0.2930787	0.347912696949542	0.19652	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.15	-4.19	0.03573	-0.792000	0.04700	-0.647000	0.08048	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3742:0.3829:0.2429:0.0	6.244	0.20020	895	0.25842	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2522.33	35	chr7	2590010	.	G	A	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=836;ExcessHet=0;FS=2.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.633;SOR=0.531	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1285	18	0	1	0
chr7	2712712	2712712	C	T	exonic	AMZ1	.	nonsynonymous SNV	AMZ1:NM_001384739:exon7:c.C1262T:p.T421M,AMZ1:NM_001384743:exon7:c.C1331T:p.T444M,AMZ1:NM_133463:exon7:c.C1331T:p.T444M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0433178747881	0.0012	0.00179712	0.0015	0.0040	0.0005	0	0	6.3e-05	0	0.0084	0.0012354	191	154602	rs113735463	0.0006	0.0006	0.0004	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0.0035	0.0003	0	2.521e-05	0	0.0003	2.162e-05	0.0008	0.0073	0.0012	0.0012	0.0011	0.0014	0.0058	0.0011	0.0010	0.0041	0.0036	0.0037	0	0.0002	0	0.0002	0	0	2.94e-05	0.0005	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000015	0.62929	D	0.000000	0.942956	0.81001	D	1.545	0.39105	L	1.54	0.30133	T	-2.2	0.49519	N	0.589	0.60918	-0.9220	0.45279	T	0.147	0.47290	T	10	0.0117715	0.00256	T	0.043318	0.60920	D	0.154	0.40340	.	.	0.243972157842	0.24002	0.40489523919639625	0.40405	.	.	0.514858067036	0.40903	T	0.049509	0.28327	T	-0.378385	0.03190	T	-0.311595	0.43488	T	0.0340002219830393	0.02638	T	0.887811	0.61653	D	0.22644955	0.45326	0.2794312	0.53911	0.22644955	0.45326	0.2794312	0.53910	-4.653	0.32830	T	.	.	0.167	0.36850	B	.	.	3.301764	0.45331	22.1	0.99816306737025495	0.89973	0.69615	0.34258	D	AEFDBCI	0.256921	0.37575	N	0.269030876630798	0.54586	3.623842	0.160574826071248	0.47704	2.996753	0.999974537743995	0.50053	0.62174	0.39705	0	0.588066	0.40923	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	4.67	3.79	0.42757	2.372000	0.43911	1.235000	0.25068	0.599000	0.40250	0.973000	0.34540	0.698000	0.26216	0.257000	0.23443	0.0:0.9094:0.0:0.0906	10.680	0.45004	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1100.33	74	chr7	2712712	.	C	T	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=821;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=1.28;SOR=1.04	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1187	18	0	1	0
chr7	2731671	2731671	T	G	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282440:exon3:c.A428C:p.K143T,GNA12:NM_001293092:exon3:c.A605C:p.K202T,GNA12:NM_007353:exon4:c.A656C:p.K219T,GNA12:NM_001282441:exon5:c.A479C:p.K160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.286769814137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.045	0.50226	D	0.737	0.42882	P	0.609	0.51053	P	0.000001	0.84330	D	0.091969	0.999997	0.81001	D	2.815	0.81989	M	-1.73	0.83327	D	-2.42	0.56787	N	0.652	0.66272	0.498	0.90524	D	0.700	0.89649	D	10	0.81313854	0.80578	D	0.28677	0.90424	D	0.668	0.87674	0.569	0.69167	0.864517202593	0.86319	0.8203320400220414	0.81990	1.61965087899	0.89044	0.860010623932	0.91113	D	0.641877	0.89028	D	0.233471	0.77046	D	0.0975887	0.76748	D	0.932513117790222	0.59862	D	0.953105	0.85063	D	0.6798906	0.76963	0.4565865	0.68415	0.6798906	0.76964	0.4565865	0.68416	-11.256	0.81479	D	.	.	0.834	0.81678	P	.;.;.	.;.;.	4.513705	0.70713	25.6	0.99771061852208098	0.85918	0.98601	0.84566	D	AEFGBI	0.923204	0.89933	D	0.519538529369346	0.68245	5.19081	0.437802243665192	0.63937	4.637848	0.999999970824036	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	4.87	0.62877	7.917000	0.86906	2.888000	0.35372	0.665000	0.62972	1.000000	0.71638	0.991000	0.31484	0.996000	0.76049	0.1242:0.0:0.0:0.8757	12.625	0.55983	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	37	chr7	2731671	.	T	G	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-1.318;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	700.33	33	chr7	2814361	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=684;ExcessHet=0;FS=4.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.46;SOR=1.334	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr7	3951025	3951025	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon6:c.C950T:p.A317V	.	434	1071	16	1	0	18	0.00833333	.	.	.	700050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0085	0.0125799	0.0078	0.0216	0.0023	0.0006	0.0003	0.0023	0.0066	0.0320	0.0071991	1113	154602	rs34775958	0.0050	0.0050	0.0043	0.0056	0.0329	0.0049	0.0048	0.0319	0.0315	0.0231	0.0028	0.0002	0.0004	0.0007	0.0038	0.0028	0.0060	0.0329	0.0096	0.0096	0.0095	0.0097	0.0364	0.0092	0.0090	0.0320	0.0303	0.0230	0.0066	0.0050	0.0003	0.0010	0.0008	0	0.0031	0.0123	0.0364	0.042	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999956	0.52396	D	1.33	0.33268	L	3.99	0.03268	T	-3.3	0.65858	D	0.678	0.72120	-0.6564	0.62434	T	0.195	0.54826	T	10	0.00770694	0.00175	T	.	.	.	0.196	0.47777	.	.	0.255777322467	0.25185	0.6759865631059169	0.67536	0.209868010446	0.23458	0.511128723621	0.40381	T	0.174289	0.52346	T	-0.432515	0.01432	T	-0.36968	0.36927	T	0.0140382206372918	0.00272	T	0.951205	0.81406	D	0.33527955	0.55901	0.2910117	0.55125	0.33527955	0.55901	0.2910117	0.55124	-6.288	0.48627	T	.	.	0.282	0.58310	B	.;.;.	.;.;.	3.901854	0.56841	23.8	0.99934987773288686	0.99579	0.95430	0.64689	D	AEFDGBI	0.473567	0.51820	N	0.395774751339719	0.61191	4.317093	0.462141489088575	0.65502	4.831709	0.999999591343745	0.74766	0.638212	0.43195	0	0.657636	0.61667	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	3.768000	0.55005	7.424000	0.58739	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.8501:0.1499:0.0	14.109	0.64638	927	0.17636	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.018939	0.02632	1098.33	35	chr7	3951025	.	C	T	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.79;DP=745;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.208;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1431	18	0	1	0
chr7	3951786	3951786	-	CCT	exonic	SDK1	.	nonframeshift insertion	SDK1:NM_152744:exon7:c.1016_1017insCCT:p.L340_H341insL	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00119808	0.0014	0.0002	0.0009	0	0.0006	0.0016	0.0011	0.0024	0.0002305	6	26028	rs557107791	0.0009	0.0009	0.0009	0.0010	0.0049	0.0009	0.0009	0.0034	0.0030	0.0001	0.0008	0.0018	0	0.0003	0.0049	0.0008	0.0018	0.0022	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	0.0002	0.0044	0.0005	0.0009	0	0.0003	0	0.0010	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.001359	0.002924	0.050000	0.000000	0.015244	0.000000	0.02632	2258.29	34	chr7	3951786	.	G	GCCT	2258.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.855;DP=773;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.93;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	18	0	1	0
chr7	3951870	3951870	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon7:c.C1100T:p.P367L	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0022	0.00878594	0.0063	0.0008	0.0017	0.0007	0.0003	0.0025	0.0045	0.0335	0.0058602	906	154602	rs117824452	0.0048	0.0048	0.0040	0.0056	0.0349	0.0047	0.0047	0.0338	0.0334	0.0006	0.0015	0.0002	0.0004	0.0009	0.0043	0.0032	0.0049	0.0349	0.0032	0.0032	0.0025	0.0040	0.0387	0.0030	0.0029	0.0342	0.0324	0.0006	0.0066	0.0016	0.0003	0.0010	0.0008	0	0.0033	0.0043	0.0387	0.065	0.36310	T	0.089	0.40426	T	0.001	0.07471	B	0.001	0.04355	B	0.211193	0.16362	N	0.558200	1	0.08975	N	0.4	0.12274	N	1.65	0.27650	T	-0.06	0.07882	N	0.171	0.19055	-1.0166	0.24819	T	0.047	0.20235	T	10	0.0033321679	0.00058	T	.	.	.	0.037	0.09474	.	.	0.289098819767	0.28531	0.3866514553656123	0.38580	0.0699051351792	0.07831	0.273677051067	0.06626	T	0.029542	0.21146	T	-0.565598	0.00235	T	-0.559457	0.16428	T	0.00317257925574289	0.00033	T	0.0912909	0.00675	T	0.031342827	0.02956	0.031073846	0.01645	0.031342827	0.02955	0.031073846	0.01645	-4.137	0.25833	T	.	.	0.077	0.12465	B	.;.;.	.;.;.	0.375352	0.07474	4.114	0.84874161139894855	0.15549	0.02063	0.06153	N	AEFDBI	0.024184	0.01458	N	-1.40793052906374	0.02568	0.1135956	-1.5274725724055	0.02135	0.09773313	0.984601035554813	0.30745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.87	-2.27	0.06458	-0.435000	0.07000	-1.666000	0.04955	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2262:0.2884:0.3911:0.0942	3.507	0.07254	927	0.17636	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.018939	0.02632	804.33	34	chr7	3951870	.	C	T	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.911;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	18	0	1	0
chr7	4245763	4245763	C	G	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_001079653:exon18:c.C1800G:p.S600R,SDK1:NM_152744:exon44:c.C6339G:p.S2113R	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.206910681415	.	0.000599042	0.0004	0	0.0002	0	0	6.008e-05	0.0011	0.0027	0.0003493	54	154602	rs530887928	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0002	0	0	0	0.0010	2.338e-05	0.0002	0.0030	0.0001	0.0001	0.0001	0.0002	0.0021	9.148e-05	7.703e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0.0034	5.881e-05	0.0005	0.0021	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.901	0.76113	P	0.000351	0.45440	D	0.182537	0.997865	0.22470	N	2.465	0.71551	M	-0.49	0.70480	T	-4.18	0.75537	D	0.598	0.62103	-0.4566	0.70181	T	0.456	0.78825	T	10	0.018219262	0.00394	T	0.206911	0.87065	D	0.277	0.59375	0.353	0.35246	0.642813735845	0.63986	0.5704469799611893	0.56972	0.380274087306	0.39395	0.476378977299	0.35559	T	0.446501	0.78912	T	-0.304245	0.08265	T	-0.214419	0.53274	T	0.196477155091909	0.20219	T	0.740126	0.35895	T	0.62428826	0.73992	0.44152948	0.67434	0.62428826	0.73994	0.44152948	0.67434	-5.555	0.42379	T	.	.	0.651	0.75456	P	.;.;.	.;.;.	2.290444	0.29297	18.08	0.99725486490890458	0.82336	0.22407	0.21736	N	AEFDGBCI	0.200611	0.32733	N	-0.227156494790349	0.32022	1.801635	-0.444620892263974	0.23701	1.293947	0.648847095661073	0.22139	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.09	-0.598	0.11065	0.326000	0.19391	-1.834000	0.04642	-0.176000	0.10722	0.024000	0.20007	0.000000	0.08366	0.948000	0.49324	0.0:0.5754:0.0:0.4246	9.768	0.39737	943	0.12886	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1189.33	38	chr7	4245763	.	C	G	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=741;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.335;SOR=0.526	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	18	0	1	0
chr7	4786298	4786298	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon9:c.C713T:p.T238I,AP5Z1:NM_014855:exon10:c.C1181T:p.T394I	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3408111	Hereditary_spastic_paraplegia_48|Retinal_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0176527255155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414208753	7.528e-06	7.525e-06	8.171e-06	6.878e-06	1.16e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	0	1.16e-05	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.089	0.32141	T	0.061	0.45530	T	0.969	0.56768	D	0.576	0.50064	P	0.147377	0.18082	N	0.591281	1	0.08975	N	2.565	0.75005	M	0.84	0.47477	T	-2.88	0.60507	D	0.474	0.50958	-0.9467	0.41532	T	0.152	0.48101	T	10	0.20505011	0.36718	T	0.017653	0.39432	T	0.101	0.28911	0.393	0.41770	0.0986583533028	0.09354	0.3229307581645778	0.32206	.	.	0.335729211569	0.15798	T	0.271599	0.64393	T	-0.155661	0.27430	T	-0.461373	0.26450	T	0.69764918088913	0.40607	D	0.808019	0.45805	T	0.058081448	0.11641	0.08942579	0.20911	0.058081448	0.11641	0.08942579	0.20911	-7.528	0.57808	D	0.5870630938763597	0.65387	0.255	0.48938	B	.;.	.;.	1.539739	0.19747	14.42	0.99760343063019308	0.85011	0.22957	0.21919	N	AEFGBCI	0.116346	0.22838	N	-0.231903685370525	0.31832	1.788884	-0.385210398986326	0.25437	1.398867	0.279007837403946	0.18969	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.29	1.21	0.20240	0.023000	0.13424	0.283000	0.16788	0.596000	0.33519	0.000000	0.06391	0.003000	0.18671	0.815000	0.38403	0.1404:0.4268:0.4328:0.0	10.254	0.42561	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	863.33	35	chr7	4786298	.	C	T	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.312;DP=689;ExcessHet=0;FS=3.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.72;SOR=1.236	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1331	18	0	1	0
chr7	4787700	4787700	G	A	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon10:c.G910A:p.A304T,AP5Z1:NM_014855:exon11:c.G1378A:p.A460T	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	636187	Retinal_dystrophy|Hereditary_spastic_paraplegia_48	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0240474937202	8e-05	.	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs371881628	6.86e-05	7.456e-05	4.234e-05	9.553e-05	0.0008	5.74e-05	5.335e-05	0.0007	0.0006	3.148e-05	2.764e-05	3.967e-05	2.778e-05	2.158e-05	0.0004	1.665e-05	0.0001	0.0008	3.287e-05	3.283e-05	2.571e-05	4.038e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0002	0.567	0.06243	T	0.066	0.44501	T	0.018	0.17786	B	0.015	0.17295	B	0.012942	0.29001	N	0.349470	0.999934	0.19363	N	2.205	0.62170	M	-0.23	0.66652	T	-1.22	0.30964	N	0.156	0.16168	-0.9060	0.47332	T	0.221	0.58421	T	10	0.018387556	0.00400	T	0.024047	0.47032	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.30292103195835707	0.30205	.	.	0.332862943411	0.15366	T	0.028976	0.20865	T	-0.516609	0.00460	T	-0.576843	0.14828	T	0.0412508559938513	0.03918	T	0.732927	0.34859	T	0.015107531	0.00122	0.031636685	0.01780	0.015107531	0.00122	0.031636685	0.01780	-5.751	0.44145	T	0.3063594133485708	0.40402	0.074	0.05274	B	.;.	.;.	0.140981	0.05347	1.834	0.92326604523907618	0.21722	0.30012	0.23972	N	AEFDGBCI	0.126013	0.24277	N	-1.17371638257916	0.05400	0.2460866	-1.22933193691014	0.05444	0.2594115	0.014761543703223	0.12635	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	1.87	0.24559	0.113000	0.15333	-0.734000	0.07648	-0.851000	0.02709	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.079:0.1398:0.4928:0.2883	4.01	0.09106	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	971.83	33	chr7	4787700	.	G	A	971.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.275;DP=651;ExcessHet=0.119;FS=10.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=2.26;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	17	0	2	0
chr7	4788197	4788197	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon11:c.C1030T:p.L344F,AP5Z1:NM_014855:exon12:c.C1498T:p.L500F	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	3408112	Hereditary_spastic_paraplegia_48|Retinal_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00586447665395	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756486052	1.561e-05	1.573e-05	1.824e-05	1.292e-05	6.25e-05	1.022e-05	8.73e-06	2.426e-05	1.526e-05	0	0	0	0	0	0	1.473e-05	1.714e-05	6.25e-05	6.571e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.26	0.16574	T	0.528	0.10173	T	0.028	0.19712	B	0.013	0.16460	B	0.918415	0.08504	U	0.956757	1	0.08975	N	1.555	0.39373	L	0.78	0.49358	T	-1.52	0.36980	N	0.136	0.13341	-0.9691	0.37386	T	0.107	0.38955	T	10	0.04414776	0.03340	T	0.005864	0.15251	T	0.084	0.24469	0.15	0.05339	0.0138822411134	0.00435	0.15571927724212892	0.15492	.	.	0.465329647064	0.34041	T	0.020624	0.16203	T	-0.311241	0.07639	T	-0.684853	0.06691	T	0.0210359779779336	0.00804	T	0.525947	0.17303	T	0.026795613	0.01782	0.046024315	0.06324	0.026795613	0.01782	0.046024315	0.06324	-5.971	0.46036	T	0.21419529359852904	0.28775	0.118	0.23952	B	.;.	.;.	1.107844	0.14925	11.44	0.91786760365567588	0.21090	0.25484	0.22712	N	AEFDGBCI	0.077448	0.15603	N	-0.853828835366547	0.11956	0.579955	-0.880686097243137	0.12552	0.6463135	0.0802325200631251	0.15840	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	-1.29	0.08805	-0.217000	0.09258	-3.310000	0.02887	-1.159000	0.01414	0.000000	0.06391	0.000000	0.08366	0.293000	0.24333	0.1137:0.333:0.4663:0.0869	6.004	0.18763	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	1092.33	37	chr7	4788197	.	C	T	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=743;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.322;SOR=1.062	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1060	18	0	1	0
chr7	4800263	4800263	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon13:c.C2890T:p.R964C	.	432	1053	37	0	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.00199681	0.0034	0.0003	0.0011	0	0	0.0030	0.0158	0.0159	0.0015459	239	154602	rs200704658	0.0011	0.0012	0.0009	0.0013	0.0161	0.0011	0.0011	0.0134	0.0124	0.0005	0.0007	0.0070	2.722e-05	2.062e-05	0.0161	0.0007	0.0024	0.0052	0.0010	0.0010	0.0009	0.0010	0.0060	0.0008	0.0008	0.0043	0.0037	0.0003	0	0.0011	0.0049	0	9.409e-05	0.0102	0.0009	0.0028	0.0060	0.061	0.37118	T	0.193	0.28210	T	0.001	0.07471	B	0.0	0.01387	B	0.586789	0.11089	N	0.824423	0.999999	0.08975	N	-0.035	0.05024	N	1.08	0.39401	T	-1.42	0.34992	N	0.087	0.06454	-1.0439	0.16148	T	0.040	0.17404	T	10	0.004285276	0.00086	T	.	.	.	0.012	0.01476	.	.	0.159798565429	0.15598	0.3952173417645482	0.39436	0.0535115294369	0.05900	0.273139417171	0.06555	T	0.004797	0.04217	T	-0.602885	0.00140	T	-0.635611	0.09992	T	0.00588679547701272	0.00065	T	0.717528	0.33029	T	0.05840386	0.11744	0.042782318	0.05176	0.05840386	0.11744	0.042782318	0.05175	-5.97	0.46028	T	.	.	0.076	0.06024	B	.	.	1.010739	0.13896	10.46	0.94012572603210043	0.24115	0.05531	0.11423	N	AEFBCI	0.085644	0.17362	N	-1.33126222504903	0.03324	0.1482498	-1.33676038859087	0.03964	0.1860297	0.999248373678898	0.38873	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.02	-1.93	0.07180	0.072000	0.14482	-0.581000	0.08376	-0.712000	0.03928	0.410000	0.26249	0.000000	0.08366	0.112000	0.18829	0.3372:0.2701:0.3927:0.0	5.244	0.14806	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011819	0.000000	0.019126	0.005917	0.000000	0.008621	0.009494	0.019231	0.05263	2158.83	48	chr7	4800263	.	G	A	2158.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.97;DP=794;ExcessHet=0.119;FS=0.596;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.787;SOR=0.63	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	17	0	2	0
chr7	4817256	4817256	C	T	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon7:c.G1711A:p.V571I	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.127446173513	0.0002	0.000199681	5.047e-05	0.0003	0	0	0.0002	3.057e-05	0	0	5.82e-05	9	154602	rs201349013	5.412e-05	5.609e-05	5.452e-05	5.371e-05	0.0003	4.416e-05	4.088e-05	6.103e-05	4.031e-05	0	0	0	2.521e-05	9.526e-05	0.0003	5.579e-05	0.0001	2.322e-05	5.254e-05	5.249e-05	6.425e-05	4.029e-05	7.221e-05	2.556e-05	1.829e-05	1.972e-05	1.125e-05	7.221e-05	0	0	0	0	0	0.0034	5.881e-05	0	0	0.01	0.56456	D	0.01	0.65728	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999442	0.47080	D	2.25	0.63811	M	0.83	0.47815	T	-0.96	0.25551	N	0.514	0.54496	-0.2984	0.75029	T	0.342	0.70729	T	10	0.42908755	0.57371	T	0.127446	0.80925	D	0.260	0.57221	.	.	0.620428437143	0.61735	0.29422956749615026	0.29335	0.284859966961	0.30900	0.52285349369	0.42028	T	0.050042	0.28480	T	-0.269725	0.11788	T	-0.345783	0.39688	T	0.267357804042143	0.23634	T	0.889511	0.62170	D	0.25034857	0.48036	0.21430285	0.45975	0.25034857	0.48036	0.21430285	0.45974	-11.452	0.82079	D	.	.	0.128	0.27343	B	.	.	4.556778	0.71761	25.7	0.99897463313264878	0.96971	0.98154	0.80066	D	AEFDGBI	0.838925	0.75639	D	0.783856294560163	0.85085	8.472346	0.753967800495872	0.86454	8.894027	0.999999916218597	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.7	5.7	0.88690	5.489000	0.66595	5.764000	0.49701	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.406	0.90482	814	0.42100	Dilute domain|Rasip1/Radil, cargo-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	796.33	33	chr7	4817256	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.138;DP=686;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.161;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	18	0	1	0
chr7	5193158	5193158	C	T	exonic	WIPI2	.	nonsynonymous SNV	WIPI2:NM_001033518:exon2:c.C115T:p.R39C,WIPI2:NM_015610:exon2:c.C115T:p.R39C	.	770	743	9	0	0	9	0.00602007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	7.7e-05	0.00119808	0.0022	0.0002	0.0006	0.0001	0	0.0011	0	0.0110	0.0017982	278	154602	rs200241348	0.0014	0.0014	0.0011	0.0016	0.0100	0.0013	0.0013	0.0094	0.0092	5.976e-05	0.0004	0.0001	0	1.872e-05	0.0100	0.0009	0.0013	0.0100	0.0007	0.0007	0.0005	0.0009	0.0102	0.0006	0.0006	0.0079	0.0071	0.0001	0	0.0005	0.0003	0	0.0002	0.0034	0.0006	0.0014	0.0102	0.027	0.46513	D	0.015	0.61642	D	0.0	0.02946	B	0.0	0.01387	B	0.112249	0.02650	U	2.364210	1	0.08975	N	0.345	0.11182	N	1.25	0.36691	T	0.25	0.04456	N	0.297	0.34012	-1.0166	0.24819	T	0.062	0.25851	T	10	0.0045412183	0.00094	T	.	.	.	0.107	0.30369	.	.	0.319402600006	0.31557	0.24390158689964797	0.24304	1.27448055317	0.82373	0.475763320923	0.35474	T	0.061041	0.31548	T	-0.505842	0.00530	T	-0.492277	0.23152	T	0.023434168358597	0.01075	T	0.656534	0.26618	T	0.056001283	0.10958	0.035365514	0.02775	0.056001283	0.10958	0.035365514	0.02775	-4.742	0.34216	T	0.1116444588481723	0.09570	0.317	0.54279	B	.;.	.;.	1.866987	0.23715	16.12	0.96035980764590634	0.28518	0.07283	0.13306	N	AEFDGBI	0.073046	0.14598	N	-0.838946224666841	0.12323	0.5999756	-0.861578209832109	0.13009	0.6725014	0.999958265433089	0.48110	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.32	2.44	0.28875	2.188000	0.42243	0.430000	0.18314	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.009000	0.08673	0.0:0.868:0.0:0.132	6.549	0.21620	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.014620	0.000000	0.008621	0.006098	0.003788	0.02632	1787.33	135	chr7	5193158	.	C	T	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.66;MQRankSum=2.36;QD=13.24;ReadPosRankSum=-1.237;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	18	0	1	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	653.4	35	chr7	5313184	.	GCTA	G	653.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.764;DP=879;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1179;MLEAC=4;MLEAF=0.105;MQ=58.79;MQRankSum=-7.241;QD=2.43;ReadPosRankSum=2.53;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,103,1278:.	15	0	4	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	618.39	35	chr7	5313190	.	GCTGCCACTA	G	618.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.811;DP=885;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.81;MQRankSum=-8.028;QD=2.21;ReadPosRankSum=2.35;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,103,1278:.	15	0	4	0
chr7	5428248	5428248	T	C	exonic	LOC100129484	.	startloss	LOC100129484:NM_001354886:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	30.4	.	chr7	5428248	.	T	C	30.4	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=-0.1751;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	10	0	1	8
chr7	5603521	5603521	G	A	exonic	FSCN1	.	nonsynonymous SNV	FSCN1:NM_003088:exon3:c.G1015A:p.E339K	.	431	1089	2	0	0	2	0.000917431	.	.	.	2682688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.055964132668	.	.	4.955e-05	0	0.0002	0	0	6.014e-05	0	0	3.88e-05	6	154602	rs764227580	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.103e-05	0	6.708e-05	0	0	0	0.0002	3.237e-05	0	6.957e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.115	0.28520	T	0.132	0.47336	T	0.608	0.39540	P	0.214	0.37471	B	0.000011	0.62929	D	0.064548	1	0.81001	D	2.07	0.56829	M	1.41	0.33412	T	-2.89	0.64826	D	0.81	0.80572	-0.6851	0.61136	T	0.178	0.52303	T	10	0.6141528	0.67610	D	0.055964	0.66430	D	0.309	0.63055	0.637	0.77361	0.633523892462	0.63052	0.6617210658791691	0.66109	0.989507635279	0.74020	0.683967351913	0.64838	T	0.697199	0.91248	D	-0.0448261	0.45229	T	-0.104523	0.63044	T	0.652997970581055	0.38591	D	0.970903	0.89563	D	0.5590165	0.70455	0.3809626	0.63116	0.5590165	0.70456	0.3809626	0.63116	-11.504	0.82351	D	0.65604121400148	0.72884	0.262	0.49664	B	.;.;.;.	.;.;.;.	4.297880	0.65597	24.9	0.99912301128189029	0.98167	0.97377	0.74364	D	AEFDGBHCI	0.934315	0.92751	D	0.456362012971067	0.64566	4.713932	0.482847432559758	0.66853	5.006513	0.999999999999995	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.45	4.45	0.53365	7.471000	0.79986	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	16.432	0.83687	929	0.16858	Fascin domain|Fascin domain;Fascin domain|Fascin domain;Fascin domain|Fascin domain;Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3594.33	33	chr7	5603521	.	G	A	3594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=797;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=0.579;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr7	5761060	5761060	C	T	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon2:c.G10A:p.G4R,RNF216:NM_207116:exon2:c.G10A:p.G4R,RNF216:NM_001377156:exon3:c.G10A:p.G4R	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00859558098018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.205e-06	5.473e-06	2.791e-06	5.634e-06	0.0007	1.51e-06	9.9e-07	0.0002	0.0001	0	0	0	0	0	0.0007	9.09e-07	0	1.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.301	0.20293	T	0.033	0.25827	B	0.04	0.28749	B	0.024872	0.26187	N	0.339230	0.624449	0.32734	D	1.31	0.32734	L	0.66	0.59583	T	-1.54	0.96495	N	0.378	0.50508	-0.9617	0.38858	T	0.108	0.39221	T	10	0.08032864	0.13025	T	0.008596	0.22730	T	0.044	0.11924	0.285	0.24280	0.516884031612	0.51331	0.2221261524255763	0.22127	0.0333891942858	0.03491	0.614716649055	0.54982	T	0.045139	0.27032	T	-0.0948132	0.37281	T	-0.373969	0.36426	T	0.280263334512711	0.24182	T	0.844016	0.52137	T	0.10036463	0.23698	0.076709464	0.17018	0.10036463	0.23698	0.076709464	0.17017	-3.69	0.19171	T	.	.	0.195	0.41541	B	.;.;.	.;.;.	2.414213	0.31037	18.62	0.99869449918353292	0.94726	0.63042	0.31966	D	AEFGBI	0.086130	0.17462	N	-0.379724614834061	0.26193	1.427622	-0.227752595582481	0.30545	1.720812	0.621988424213661	0.21893	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.88	3.06	0.34374	1.756000	0.38018	3.203000	0.36761	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.0:0.7992:0.0:0.2008	7.470	0.26514	732	0.54084	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	712.33	40	chr7	5761060	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.244;DP=731;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.13;MQRankSum=0.472;QD=10.63;ReadPosRankSum=1.84;SOR=0.478	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1094	18	0	1	0
chr7	5905217	5905217	A	G	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon7:c.A646G:p.S216G	.	461	1059	2	0	0	2	0.000943396	.	.	.	4116374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.00368820174804	.	.	3.121e-05	0.0001	0	0	0	3.7e-05	0	0	3.84e-05	1	26028	rs773853275	4.507e-05	4.592e-05	3.929e-05	5.089e-05	0.0009	3.612e-05	3.287e-05	0.0003	0.0002	3.259e-05	0	0	0	0	0.0009	4.235e-05	0.0001	7.328e-05	3.496e-05	3.333e-05	2.711e-05	4.333e-05	6.893e-05	1.322e-05	8.43e-06	1.992e-05	1.138e-05	0	0	6.893e-05	0	0	0	0	5.966e-05	0	0	0.086	0.32610	T	0.012	0.63918	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	-2.62	0.56301	D	0.744	0.74371	-0.8428	0.52460	T	0.203	0.56017	T	9	0.66565156	0.70411	D	0.003688	0.08527	T	0.193	0.47281	0.627	0.76254	0.389366070519	0.38549	0.42924326816062747	0.42841	.	.	0.585609912872	0.50877	T	0.185633	0.53866	T	-0.0110641	0.50118	T	-0.0683968	0.65740	T	0.18258115513735	0.19397	T	.	.	.	0.32834798	0.55335	0.2659503	0.52435	0.32834798	0.55335	0.2659503	0.52434	-8.555	0.64792	D	.	.	0.089	0.12132	B	.	.	4.191210	0.63170	24.5	0.99765915246198988	0.85500	0.95938	0.66805	D	AEFI	0.803358	0.72853	D	0.507170312298747	0.67512	5.091645	0.58245791450154	0.73683	6.010739	0.624441688407026	0.21913	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	7.465000	0.79922	9.279000	0.79698	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.413	0.74664	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002041	0.000000	0.002740	0.000000	0.000000	0.000000	0.003049	0.003846	0.02632	1241.33	33	chr7	5905217	.	A	G	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.413;DP=792;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.67;MQRankSum=0.941;QD=13.64;ReadPosRankSum=-1.589;SOR=1.019	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	5926375	5926377	TTC	-	exonic	RSPH10B;RSPH10B2	.	nonframeshift deletion	RSPH10B2:NM_001099697:exon21:c.2604_2606del:p.K870del,RSPH10B:NM_173565:exon21:c.2604_2606del:p.K870del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.00299521	0.0019	0.0085	0.0005	0.0004	0.0008	0.0009	0	0.0027	0.0008538	132	154602	rs573685130	0.0005	0.0006	0.0005	0.0006	0.0039	0.0005	0.0005	0.0033	0.0031	0.0039	0.0003	0.0026	0.0017	3.837e-05	0.0009	0.0002	0.0008	0.0019	0.0012	0.0014	0.0013	0.0011	0.0032	0.0010	0.0010	0.0027	0.0025	0.0032	0	0.0002	0.0024	0.0012	0.0002	0	0.0003	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031250	0.035714	0.026836	0.037975	0.000000	0.027778	0.039823	0.022727	0.02632	723.29	41	chr7	5926374	.	TTTC	T	723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=10.48;ReadPosRankSum=1.74;SOR=0.184	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,718	18	0	1	0
chr7	5943365	5943365	C	T	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.G1717A:p.E573K,RSPH10B:NM_173565:exon15:c.G1717A:p.E573K	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	0.0019	0.000798722	0.0034	0.0008	0.0006	0.0005	0.0139	0.0038	0.0118	0.0019	0.0003842	10	26028	rs141993275	0.0030	0.0032	0.0031	0.0030	0.0030	0.0030	0.0029	0.0029	0.0028	0.0007	0.0007	0.0008	0.0008	0.0135	0.0023	0.0030	0.0033	0.0012	0.0027	0.0028	0.0026	0.0027	0.0033	0.0025	0.0024	0.0029	0.0028	0.0008	0	0.0016	0	0.0012	0.0101	0.0035	0.0033	0.0034	0.0010	0.015	0.52492	D	0.006	0.70582	D	1.0	0.90584	D	0.939	0.67449	D	0.044349	0.23647	N	0.323207	0.884354	0.81001	D	2.125	0.59049	M	0.3	0.58755	T	-2.73	0.58085	D	0.588	0.60833	-0.2130	0.77335	T	0.370	0.72940	T	10	0.0077085197	0.00175	T	.	.	.	0.209	0.49871	.	.	0.326345978581	0.32251	0.4712629908709334	0.47045	.	.	0.777902841568	0.78611	T	0.03028	0.21502	T	-0.330332	0.06087	T	-0.250954	0.49722	T	0.0330945032263918	0.02487	T	0.865813	0.56549	D	0.2001536	0.41980	0.18369192	0.41374	0.2001536	0.41980	0.18369192	0.41373	-7.385	0.56800	T	.	.	0.532	0.68218	A	.;.;.	.;.;.	4.256079	0.64637	24.7	0.9982502239446267	0.90764	0.95050	0.63256	D	AEFI	0.504218	0.53588	D	0.341733152506369	0.58305	4.001916	0.157945063145937	0.47564	2.984784	0.00271172640181135	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	6.249000	0.72380	7.471000	0.59152	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:1.0:0.0:0.0	14.355	0.66294	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004264	0.000000	0.005450	0.012397	0.000000	0.000000	0.006173	0.000000	0.02632	1486.33	34	chr7	5943365	.	C	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=805;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.8;MQRankSum=-0.735;QD=9.17;ReadPosRankSum=-0.197;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	18	0	1	0
chr7	5943445	5943445	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.C1637T:p.T546M,RSPH10B:NM_173565:exon15:c.C1637T:p.T546M	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0569621342989	7.8e-05	.	7.69e-05	0	0	0	0	9.264e-05	0	0.0002	3.84e-05	1	26028	rs374427152	3.753e-05	4.584e-05	3.183e-05	4.328e-05	0.0004	2.94e-05	2.634e-05	9.07e-05	7.195e-05	0	2.421e-05	0	0	0	0.0004	3.096e-05	6.733e-05	0.0002	6.624e-05	7.237e-05	6.472e-05	6.782e-05	0.0002	3.543e-05	2.636e-05	5.851e-05	4.246e-05	0	0	6.677e-05	0	0	0	0	0.0001	0	0.0002	0.005	0.63226	D	0.024	0.56640	D	1.0	0.90584	D	0.759	0.56370	P	0.204952	0.16506	N	0.567046	1	0.81001	D	2.135	0.59519	M	0.56	0.54540	T	-2.94	0.61435	D	0.45	0.50056	-0.3694	0.72980	T	0.311	0.68130	T	10	0.39693668	0.55293	T	0.056962	0.66795	D	0.172	0.43662	.	.	0.436348499334	0.43257	0.386340243757776	0.38549	.	.	0.534548640251	0.43674	T	0.085435	0.37500	T	-0.0644685	0.42207	T	-0.330381	0.41426	T	0.659074008464813	0.38855	D	0.808919	0.45897	T	0.095662355	0.22517	0.18414497	0.41448	0.095662355	0.22517	0.18414497	0.41447	-7.817	0.59816	D	.	.	0.132	0.28578	B	.;.;.	.;.;.	2.925547	0.38847	20.8	0.99818786541537874	0.90150	0.53117	0.29294	D	AEFI	0.184335	0.31166	N	0.188630447999723	0.50653	3.253304	0.0136700094810185	0.40348	2.406573	0.00271172640181135	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	3.718000	0.54647	3.302000	0.37391	0.661000	0.55757	0.404000	0.26202	0.552000	0.25473	0.013000	0.09966	0.0:0.0:1.0:0.0	14.355	0.66294	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1146.33	70	chr7	5943445	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1510;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.88;MQRankSum=-1.186;QD=6.74;ReadPosRankSum=-1.719;SOR=0.721	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.49	44	chr7	5967064	.	G	A	32.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.231;DP=766;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.2129;MLEAC=3;MLEAF=0.125;MQ=26.95;MQRankSum=0;QD=0.35;ReadPosRankSum=1.44;SOR=0.114	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:27,0:27:0:.:.:0,0,676:.	10	0	2	7
chr7	5999198	5999198	C	A	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon4:c.G297T:p.Q99H,PMS2:NM_001322004:exon5:c.G210T:p.Q70H,PMS2:NM_001322007:exon5:c.G297T:p.Q99H,PMS2:NM_001322010:exon5:c.G210T:p.Q70H,PMS2:NM_000535:exon6:c.G615T:p.Q205H,PMS2:NM_001322003:exon6:c.G210T:p.Q70H,PMS2:NM_001322005:exon6:c.G210T:p.Q70H,PMS2:NM_001322006:exon6:c.G615T:p.Q205H,PMS2:NM_001322009:exon6:c.G210T:p.Q70H,PMS2:NM_001322014:exon6:c.G615T:p.Q205H,PMS2:NM_001322015:exon6:c.G306T:p.Q102H	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	YES	233567	Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome|Lynch_syndrome_4|Mismatch_repair_cancer_syndrome_4|Hereditary_cancer-predisposing_syndrome	MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0768661380377	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs752499497	9.577e-06	9.577e-06	9.529e-06	9.626e-06	8.115e-05	5.56e-06	4.35e-06	3.765e-05	2.662e-05	0	0	0	0	1.872e-05	0	3.597e-06	3.312e-05	8.115e-05	1.315e-05	1.314e-05	0	2.692e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.161	0.23631	T	0.231	0.26798	T	1.0	0.90584	D	0.977	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.86	0.49225	L	-0.78	0.73631	T	-2.73	0.66325	D	0.771	0.77507	-0.2984	0.75029	T	0.468	0.79476	T	10	0.35535797	0.52299	T	0.076866	0.72635	D	0.379	0.69696	0.412	0.44887	0.872992548276	0.87175	0.6693669094656114	0.66874	0.259186231862	0.28475	0.471287369728	0.34858	T	0.305663	0.67790	T	-0.0454513	0.45136	T	-0.20621	0.54058	T	0.806205451488495	0.46781	D	0.89771	0.67517	D	0.6285453	0.74221	0.24311186	0.49748	0.6285453	0.74222	0.24311186	0.49746	-5.756	0.44452	T	0.5603961443245065	0.62820	0.263	0.55327	B	.;.;.;.;.;.	.;.;.;.;.;.	3.719787	0.53147	23.3	0.99636365464119547	0.76387	0.89127	0.49408	D	AEFGBI	0.269606	0.38585	N	0.323429285088389	0.57352	3.902298	0.285350104000573	0.54683	3.632586	0.00107282708764821	0.08194	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.65	2.88	0.32617	0.748000	0.25970	1.336000	0.25703	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.568:0.1522:0.2798	5.253	0.14849	867	0.32089	DNA mismatch repair protein family, N-terminal;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	42	chr7	5999198	.	C	A	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.073;DP=905;ExcessHet=0;FS=3.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.203;SOR=0.588	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	18	0	1	0
chr7	6005892	6005892	C	A	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_000535:exon2:c.G163T:p.D55Y,PMS2:NM_001322006:exon2:c.G163T:p.D55Y,PMS2:NM_001322014:exon2:c.G163T:p.D55Y	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9999	0.862	YES	2418513	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.815	0.179809997361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000010	0.62929	D	0.108413	1	0.81001	D	2.515	0.73286	M	-3.62	0.95077	D	-6.61	0.92736	D	0.787	0.78356	1.032	0.97753	D	0.927	0.97601	D	9	0.90079296	0.89440	D	0.17981	0.85448	D	0.815	0.94046	0.528	0.63412	0.969388848168	0.96905	0.6702270069650863	0.66960	0.291387011894	0.31546	0.541040599346	0.44591	T	0.730023	0.92436	D	0.351326	0.86596	D	0.266879	0.86419	D	0.993021568491664	0.83672	D	0.958204	0.84269	D	0.9306465	0.94302	0.8824447	0.93733	0.9306465	0.94303	0.8824447	0.93734	-15.028	0.95917	D	.	.	0.406	0.59937	A	.;.	.;.	6.312368	0.94995	34	0.99565078583719346	0.72014	0.98452	0.82924	D	AEFBI	0.925734	0.90574	D	0.93565729710271	0.93394	12.01056	0.888345555249172	0.95045	13.26203	0.999999999999956	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.67	5.67	0.87673	7.542000	0.81035	7.710000	0.66754	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.759	0.96299	851	0.35303	DNA mismatch repair protein family, N-terminal|Histidine kinase/HSP90-like ATPase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	40	chr7	6005892	.	C	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.737;SOR=0.675	GT:AD:DP:GQ:PL	0/1:46,27:73:99:632,0,1162	18	0	1	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.000000	0.009511	0.043860	0.000000	0.000000	0.003049	0.003788	0.02632	2673.33	34	chr7	6330718	.	G	A	2673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.637;DP=2448;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.399;SOR=0.683	GT:AD:DP:GQ:PL	0/0:164,0:164:99:0,120,1800	18	0	1	0
chr7	6410163	6410163	A	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon12:c.T1400C:p.I467T,DAGLB:NM_139179:exon14:c.T1787C:p.I596T	.	423	1093	6	0	0	6	0.00273723	.	.	.	700170	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.476	.	0.0056	0.00279553	0.0083	0.0017	0.0031	0	0.0220	0.0109	0.0126	0.0028	0.0063324	979	154602	rs139753251	0.0082	0.0082	0.0082	0.0081	0.0090	0.0080	0.0080	0.0089	0.0088	0.0012	0.0042	0.0046	2.565e-05	0.0166	0.0018	0.0090	0.0078	0.0020	0.0070	0.0070	0.0071	0.0070	0.0105	0.0067	0.0065	0.0099	0.0096	0.0016	0	0.0056	0.0026	0.0002	0.0156	0	0.0105	0.0071	0.0023	0.001	0.78490	D	0.003	0.76473	D	0.996	0.68779	D	0.905	0.64260	P	0.000119	0.50451	D	0.177195	0.999872	0.81001	D	2.82	0.82106	M	0.22	0.59851	T	-4.0	0.78388	D	0.863	0.87157	-0.1922	0.77873	T	0.335	0.70231	T	10	0.011635125	0.00253	T	.	.	.	0.476	0.76816	.	.	0.79656958128	0.79467	0.898214125429281	0.89792	0.245692011296	0.27094	0.663747370243	0.61944	T	0.434721	0.78171	T	-0.147411	0.28719	T	0.0284516	0.72176	D	0.0176097797541296	0.00494	T	0.909009	0.67793	D	0.4210317	0.62160	0.62813973	0.78315	0.4210317	0.62161	0.62813973	0.78316	-10.963	0.79861	D	.	.	0.88	0.82514	P	.;.;.	.;.;.	4.506991	0.70541	25.5	0.99798917298060397	0.88372	0.90149	0.51101	D	AEFDGBCI	0.493900	0.52992	N	0.64336317586796	0.75940	6.395606	0.648535370185396	0.78503	6.889119	0.999999999979296	0.74766	0.78354	0.99714	0	0.577304	0.33150	0	0.827368	0.99476	0	0.636168	0.56350	0	.	.	5.94	5.94	0.96165	7.111000	0.76717	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	1.0:0.0:0.0:0.0	16.407	0.83529	824	0.40336	.;.;.	.	.	.	.	rs139753251	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001517	0.010204	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	1516.33	44	chr7	6410163	.	A	G	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=798;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.585;SOR=0.679	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1294	18	0	1	0
chr7	6430565	6430565	T	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_139179:exon6:c.A844C:p.M282L	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	7.7e-05	0.00599042	0.0039	0	0.0003	0.0001	0	0	0	0.0279	0.0031177	482	154602	rs368662898	0.0015	0.0015	0.0008	0.0021	0.0233	0.0014	0.0014	0.0224	0.0221	0.0001	6.79e-05	0	0	0	0.0003	2.623e-05	0.0016	0.0233	0.0008	0.0008	0.0005	0.0010	0.0236	0.0007	0.0006	0.0201	0.0188	7.228e-05	0	6.564e-05	0	0	0	0	2.942e-05	0	0.0236	0.009	0.57480	D	0.031	0.53788	D	0.512	0.37351	P	0.102	0.30857	B	0.000000	0.84330	D	0.041945	0.999951	0.81001	D	2.16	0.60381	M	0.88	0.46412	T	-1.92	0.47683	N	0.73	0.73105	-1.0609	0.11532	T	0.080	0.31556	T	10	0.007727146	0.00175	T	.	.	.	0.197	0.47942	0.612	0.74535	0.312001716656	0.30816	0.7069166920994722	0.70633	0.0508659047656	0.05589	0.508673071861	0.40037	T	0.171103	0.51909	T	-0.239216	0.15449	T	-0.0967969	0.63645	T	0.0606021324751123	0.07263	T	0.882612	0.60317	D	0.41977805	0.62077	0.43101916	0.66733	0.41977805	0.62077	0.43101916	0.66733	-9.478	0.70722	D	.	.	0.206	0.50952	B	.;.	.;.	2.995884	0.40013	21.1	0.9637306883594704	0.29590	0.92000	0.54724	D	AEFDGBHCI	0.634867	0.61458	D	0.0988441823876177	0.46409	2.881648	0.192421464973082	0.49431	3.146352	0.999999988898378	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.15	3.98	0.45383	5.583000	0.67179	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0745:0.0:0.9255	11.470	0.49508	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	445.33	34	chr7	6430565	.	T	G	445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.433;DP=671;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.184;SOR=0.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	18	0	1	0
chr7	6583386	6583386	T	C	exonic	ZDHHC4	.	nonsynonymous SNV	ZDHHC4:NM_001371293:exon5:c.T451C:p.C151R,ZDHHC4:NM_001371298:exon5:c.T391C:p.C131R,ZDHHC4:NM_001134387:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134389:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371292:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371296:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371297:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371299:exon6:c.T451C:p.C151R,ZDHHC4:NM_018106:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134388:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371294:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371295:exon7:c.T451C:p.C151R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0078	0.00279553	0.0051	0.0012	0.0036	0	0.0029	0.0076	0.0011	0.0026	0.0056274	870	154602	rs144937586	0.0080	0.0081	0.0083	0.0078	0.0094	0.0079	0.0079	0.0093	0.0092	0.0011	0.0025	0.0109	2.52e-05	0.0029	0.0057	0.0094	0.0071	0.0028	0.0056	0.0056	0.0058	0.0054	0.0089	0.0053	0.0052	0.0083	0.0081	0.0017	0.0285	0.0043	0.0115	0	0.0023	0	0.0089	0.0057	0.0021	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.05	0.99895	H	0.39	0.86010	T	-11.0	0.99399	D	0.978	0.99611	0.814	0.94584	D	0.813	0.93690	D	10	0.027118385	0.00863	T	.	.	.	0.614	0.84932	.	.	0.945805394361	0.94524	0.9826998763058142	0.98261	0.403258950643	0.41270	0.667209327221	0.62439	T	0.379432	0.74219	T	-0.129121	0.31639	T	0.0521385	0.73725	D	0.146796232529743	0.16845	T	0.690631	0.30012	T	0.9589247	0.97171	0.929022	0.97027	0.9589247	0.97172	0.929022	0.97028	-9.559	0.71226	D	.	.	0.848	0.82688	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626628	0.73518	26.0	0.99693707556912481	0.80112	0.99358	0.94979	D	AEFBI	0.952257	0.96756	D	0.799268391164261	0.86061	8.765888	0.637258878546838	0.77663	6.723262	0.999998400705788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	7.303000	0.78192	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	13.111	0.58686	858	0.34001	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;.;Palmitoyltransferase, DHHC domain	.	.	.	.	rs144937586	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.05263	3493.81	33	chr7	6583386	.	T	C	3493.81	.	AC=2;AF=0.053;AN=38;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.36;SOR=0.932	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1390	18	1	0	0
chr7	6590452	6590452	A	G	exonic	C7orf26	.	nonsynonymous SNV	C7orf26:NM_001303039:exon1:c.A169G:p.K57E,C7orf26:NM_024067:exon1:c.A169G:p.K57E	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0522663133896	.	0.000798722	0.0008	0	0	0	0	9.633e-05	0.0024	0.0041	0.0004075	63	154602	rs370746279	0.0002	0.0002	8.806e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.341e-05	0	0	0	0.0008	1.901e-05	0.0002	0.0029	0.0001	0.0001	9.003e-05	0.0002	0.0029	8.169e-05	6.725e-05	0.0018	0.0014	0	0	0	0	0	0	0.0034	4.413e-05	0.0005	0.0029	0.406	0.13925	T	0.047	0.92824	D	0.982	0.60036	D	0.702	0.54226	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.075	0.57047	M	0.96	0.42888	T	-0.42	0.14193	N	0.31	0.48504	-0.9183	0.45783	T	0.151	0.47909	T	10	0.008075923	0.00183	T	0.052266	0.65000	D	0.117	0.32689	0.37	0.38013	0.138757226776	0.13463	0.3990342180736399	0.39818	0.635579275713	0.57371	.	.	.	0.016811	0.13826	T	-0.33768	0.05551	T	-0.261822	0.48642	T	0.12418500836289	0.14834	T	0.782722	0.41876	T	0.53197986	0.68943	0.5349333	0.73126	0.53197986	0.68944	0.5349333	0.73126	-2.683	0.07161	T	.	.	0.517	0.65350	A	.;.	.;.	4.159129	0.62453	24.5	0.98292953522571713	0.39964	0.90205	0.51199	D	ALL	0.802020	0.72756	D	0.508862784662724	0.67611	5.104941	0.515262915011653	0.69015	5.300533	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.72	4.72	0.59248	3.381000	0.52188	.	.	0.739000	0.86063	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.497	0.55276	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	389.33	34	chr7	6590452	.	A	G	389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=591;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.066;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	18	0	1	0
chr7	6642492	6642492	-	GGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT	exonic	ZNF316	.	nonframeshift insertion	ZNF316:NM_001278559:exon5:c.83_84insGGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT:p.E50_I51insEEKGEEVQEVEEEEEE	.	360	1161	1	0	0	1	0.000430478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs561225165	4.439e-05	9.715e-05	3.681e-05	5.286e-05	0.0014	3.438e-05	3.04e-05	0.0010	0.0008	0	0.0002	0	0	0	0.0003	1.412e-05	0.0001	0.0014	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	1.471e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	722.29	38	chr7	6642492	.	A	AGGAAGAAGAGGAGGAGGAGGAGGAAAAGGGGGAAGAGGTGCAGGAGGT	722.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=694;ExcessHet=0;FS=5.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=-2.619;SOR=0.946	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1104	18	0	1	0
chr7	6763947	6763947	T	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon6:c.T419A:p.V140D,RSPH10B:NM_173565:exon6:c.T419A:p.V140D	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148804231871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331379936	1.379e-06	2.057e-06	1.372e-06	1.386e-06	1.814e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.10311	T	0.054	0.47097	T	0.695	0.41722	P	0.223	0.37929	B	0.342443	0.13941	N	0.666605	1	0.81001	D	1.255	0.31814	L	0.51	0.55439	T	-2.28	0.50830	N	0.314	0.38950	-0.9842	0.34022	T	0.128	0.43585	T	10	0.22885117	0.39799	T	0.01488	0.35280	T	0.128	0.35103	0.614	0.74768	0.490074841992	0.48640	0.4847905534449303	0.48399	.	.	0.541220664978	0.44618	T	0.012946	0.11287	T	-0.135321	0.30639	T	-0.432155	0.29690	T	0.207142606377602	0.20803	T	0.466753	0.13720	T	0.15721653	0.35438	0.21708432	0.46360	0.15721653	0.35437	0.21708432	0.46359	-11.005	0.79686	D	.	.	0.576	0.67865	P	.;.;.	.;.;.	1.969401	0.25016	16.61	0.91372449066111516	0.20637	0.32347	0.24563	N	AEFGI	0.297208	0.40685	N	-0.330221732508259	0.28004	1.541142	-0.411638638418449	0.24655	1.351368	0.0284723936198051	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.61	3.61	0.40494	3.220000	0.50909	.	.	-0.662000	0.04349	0.169000	0.23921	0.001000	0.17328	0.130000	0.19568	0.0:0.0:0.0:1.0	10.367	0.43213	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2276.83	34	chr7	6763947	.	T	A	2276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.495;DP=1079;ExcessHet=0.119;FS=1.245;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.97;MQRankSum=0.284;QD=4.85;ReadPosRankSum=2.28;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1444	17	0	2	0
chr7	6799240	6799240	A	T	exonic	CCZ1B	.	nonsynonymous SNV	CCZ1B:NM_198097:exon15:c.T1433A:p.I478N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0431176736626	0.0015	0.00139776	0.0039	0.0009	0.0044	0.0003	0	0.0050	0.0028	0.0039	7.12e-05	11	154602	rs138854886	0.0022	0.0020	0.0021	0.0022	0.0023	0.0021	0.0021	0.0023	0.0022	0.0001	0.0022	0.0045	0	0.0001	0.0006	0.0023	0.0021	0.0021	0.0016	0.0017	0.0017	0.0015	0.0023	0.0014	0.0013	0.0020	0.0018	0.0008	0	0.0007	0.0031	0	0	0	0.0023	0.0018	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.049709	1	0.81001	D	2.56	0.74772	M	.	.	.	-4.98	0.82141	D	0.892	0.89131	-0.5242	0.67759	T	0.271	0.64308	T	6	0.040212005	0.02571	T	0.043118	0.60817	D	0.386	0.70276	.	.	0.504968073517	0.50134	0.71744288525426	0.71687	.	.	0.846720695496	0.89118	D	0.099741	0.40485	T	0.0429278	0.57428	T	0.129863	0.78884	D	0.0651106187352131	0.07947	T	0.959604	0.84807	D	0.53669614	0.69211	0.40755966	0.65098	0.53669614	0.69212	0.40755966	0.65098	-12.122	0.85440	D	.	.	0.994	0.94895	P	.	.	4.889102	0.80252	27.3	0.99250647728948282	0.56858	0.97692	0.76450	D	AEFI	0.847402	0.76425	D	0.157100059326893	0.49147	3.118542	0.143874804859153	0.46817	2.92168	0.0801521127751988	0.15838	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.49	3.49	0.39065	8.500000	0.90331	.	.	0.335000	0.19678	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	1.0:0.0:0.0:0.0	10.026	0.41245	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000724	0.000000	0.000000	0.005376	0.000000	0.000000	0.000000	0.000000	0.03571	592.2	31	chr7	6799240	.	A	T	592.2	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.846;DP=428;ExcessHet=0;FS=2.268;InbreedingCoeff=0.0221;MLEAC=1;MLEAF=0.036;MQ=34.8;MQRankSum=-1.125;QD=10.77;ReadPosRankSum=0.505;SOR=0.55	GT:AD:DP:GQ:PL	0/1:28,27:55:99:603,0,604	13	0	1	5
chr7	7572944	7572944	C	T	exonic	MIOS	.	nonsynonymous SNV	MIOS:NM_001370077:exon2:c.C469T:p.P157S,MIOS:NM_001370078:exon2:c.C469T:p.P157S,MIOS:NM_001370080:exon2:c.C469T:p.P157S,MIOS:NM_001370076:exon3:c.C469T:p.P157S,MIOS:NM_019005:exon4:c.C469T:p.P157S	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00214407481956	.	.	3.317e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs764036994	1.437e-05	1.436e-05	4.084e-06	2.475e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.176	0.22312	T	0.76	0.06147	T	0.0	0.02946	B	0.0	0.01387	B	0.000108	0.50451	D	0.173723	0.999833	0.49637	D	0.345	0.11182	N	0.74	0.50459	T	0.4	0.03463	N	0.147	0.14905	-1.0715	0.09086	T	0.065	0.26913	T	10	0.09358716	0.16575	T	0.002144	0.03989	T	0.091	0.26358	0.366	0.37361	0.480046427281	0.47636	0.16919716769481669	0.16839	0.230400222297	0.25588	0.429964601994	0.29203	T	0.016949	0.13915	T	-0.406572	0.02095	T	-0.547489	0.17567	T	0.0484422213025863	0.05223	T	0.751425	0.38711	T	0.042015158	0.06295	0.05603604	0.09939	0.042015158	0.06294	0.05603604	0.09939	-2.177	0.03930	T	.	.	0.069	0.04119	B	.;.;.	.;.;.	2.532519	0.32744	19.13	0.814659289765164	0.13699	0.83253	0.42385	D	AEFDGBCI	0.212359	0.33805	N	-0.196051530506343	0.33297	1.887554	0.046986355639376	0.41925	2.527149	0.99998771470119	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	1.985000	0.40289	3.957000	0.40718	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.1306:0.7272:0.1422:0.0	11.472	0.49522	670	0.60992	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1983.33	39	chr7	7572944	.	C	T	1983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=797;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.335;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1325	18	0	1	0
chr7	7673311	7673334	AGCAGCAGCAGCAGCAGCAGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1323824909	0.0022	0.0016	0.0017	0.0027	0.0147	0.0022	0.0021	0.0139	0.0136	0.0129	0.0013	0.0007	0.0003	0.0015	0.0069	0.0007	0.0024	0.0147	0.0077	0.0075	0.0073	0.0081	0.0216	0.0073	0.0071	0.0204	0.0199	0.0216	0	0.0019	0.0012	0.0002	0.0024	0.0069	0.0017	0.0076	0.0200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	16436.0	20	chr7	7673310	.	TAGCAGCAGCAGCAGCAGCAGCAGC	T	16436.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=697;ExcessHet=1.3;FS=1.679;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=32.74;ReadPosRankSum=0.223;SOR=0.97	GT:AD:DP:GQ:PL	0/0:0,0:29:99:1045,1072,1136	18	0	1	0
chr7	12344254	12344254	C	A	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon19:c.G3674T:p.C1225F,VWDE:NM_001346973:exon19:c.G3209T:p.C1070F,VWDE:NM_001135924:exon21:c.G4019T:p.C1340F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.0917625767254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.148e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.002	0.79402	D	0.987	0.61912	D	0.571	0.49890	P	0.000000	0.84330	D	0.054557	0.98598	0.40363	D	3.705	0.94653	H	0.24	0.59583	T	-6.38	0.91100	D	0.742	0.91391	0.185	0.85657	D	0.389	0.74386	T	10	0.97945124	0.97870	D	0.091763	0.75766	D	0.396	0.71084	0.983	0.99835	0.515882253919	0.51231	0.9804680047503459	0.98037	.	.	0.572542667389	0.49037	T	0.247183	0.81540	T	0.185471	0.72547	D	0.0286397	0.72189	D	0.994047880172729	0.85117	D	0.829717	0.49916	T	0.8416449	0.86725	0.79307973	0.87837	0.8416449	0.86727	0.79307973	0.87837	-12.4	0.86745	D	.	.	0.922	0.84365	P	.;.	.;.	4.196356	0.63292	24.6	0.99162454143177636	0.54127	0.97819	0.77366	D	AEFBI	0.819181	0.74026	D	0.704916050437742	0.79956	7.188403	0.615202772817415	0.76043	6.41891	0.999973774130031	0.50053	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.08	4.08	0.46880	5.182000	0.64897	2.247000	0.31658	0.549000	0.26987	1.000000	0.71638	0.988000	0.31051	0.996000	0.76049	0.0:1.0:0.0:0.0	16.819	0.85603	848	0.35897	EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	40	chr7	12344254	.	C	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.818;DP=778;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.45;SOR=0.515	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	18	0	1	0
chr7	12367495	12367495	T	G	splicing	VWDE	NM_001135924:exon13:c.2762-2A>C;NM_001346973:exon11:c.1952-2A>C;NM_001346972:exon11:c.2417-2A>C	.	.	.	464	1056	2	0	0	2	0.000946074	0.9999	0.84	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0015	0	0	0	0	0	0	0.0040	0.0002135	33	154602	rs565218786	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0032	0.0031	7.11e-05	4.213e-05	0	0	0	0.0006	8.533e-06	0.0004	0.0036	0.0002	0.0002	7.715e-05	0.0002	0.0039	0.0001	8.723e-05	0.0026	0.0021	0	0	0	0	0	0	0	5.889e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.403936	0.02181	T	-0.353841	0.38765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.727017	0.76090	26.4	0.74720909660307411	0.10802	0.91112	0.52884	D	AEFBI	.	.	.	0.478678511546545	0.65846	4.874166	0.152462455703665	0.47272	2.959976	0.0930989537064585	0.16174	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.73089	0.43805	3.71	2.51	0.29435	3.583000	0.53673	4.120000	0.41968	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.231000	0.22761	0.1554:0.0:0.0:0.8446	9.663	0.39129	833	0.38804	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	680.33	43	chr7	12367495	.	T	G	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=749;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.45;SOR=1.329	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	18	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07895	4882.79	43	chr7	12380643	.	G	C	4882.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.55;DP=1015;ExcessHet=0.3672;FS=2.947;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.103;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	16	0	3	0
chr7	12393716	12393716	C	A	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon2:c.G121T:p.D41Y,VWDE:NM_001346972:exon2:c.G121T:p.D41Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0376064459589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.003519	0.34847	N	0.333664	0.764243	0.29506	N	2.44	0.70756	M	-0.16	0.65378	T	-4.53	0.78388	D	0.649	0.66016	-0.3880	0.72404	T	0.367	0.72750	T	10	0.72620744	0.73990	D	0.037606	0.57720	D	0.262	0.57482	0.438	0.49157	0.48447252604	0.48079	0.7207080388386138	0.72013	.	.	0.415243417025	0.27181	T	0.122628	0.44643	T	0.141691	0.68485	D	-0.0342469	0.68087	D	0.983933985233307	0.75420	D	0.910909	0.68443	D	0.4435443	0.63630	0.43055606	0.66702	0.4435443	0.63631	0.43055606	0.66702	-7.595	0.58276	D	.	.	0.241	0.47481	B	.	.	4.003399	0.59012	24.0	0.99463893830158356	0.65944	0.83040	0.42192	D	AEFBHCI	0.606660	0.59692	D	0.462300213581593	0.64904	4.755813	0.380446664216349	0.60360	4.222685	0.99999822897804	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.87	3.96	0.45097	1.595000	0.36318	2.095000	0.30570	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9236:0.0:0.0764	13.556	0.61221	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	55.72	55	chr7	12393716	.	C	A	55.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.851;DP=870;ExcessHet=0;FS=44.077;InbreedingCoeff=-0.0414;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.05;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:86:.:.:0,86,1175:.	17	0	1	1
chr7	12640459	12640459	C	T	exonic	SCIN	.	nonsynonymous SNV	SCIN:NM_033128:exon9:c.C782T:p.P261L,SCIN:NM_001112706:exon11:c.C1523T:p.P508L	.	.	.	.	.	.	.	.	.	.	.	3317296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0140684063539	.	0.000798722	0.0001	0.0001	8.927e-05	0	0	1.533e-05	0	0.0008	0.0001294	20	154602	rs191632569	5.75e-05	5.814e-05	3.405e-05	8.118e-05	0.0007	4.746e-05	4.369e-05	0.0006	0.0005	0	0.0002	0	0	0	0	3.599e-06	0.0001	0.0007	0.0001	0.0001	0.0001	0.0001	0.0010	8.173e-05	6.728e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	0	0	0.0008	0.088	0.36310	T	0.008	0.67890	D	0.001	0.07471	B	0.004	0.10090	B	0.001794	0.37998	N	0.173058	0.999983	0.18198	N	2.39	0.68882	M	0.96	0.42888	T	-4.05	0.74504	D	0.378	0.44666	-1.0231	0.22704	T	0.082	0.32148	T	10	0.020688802	0.00481	T	0.014068	0.33936	T	0.099	0.28413	.	.	0.304108284078	0.30024	0.41938721485592756	0.41854	0.00660640993774	0.00580	0.306091308594	0.11316	T	0.08592	0.37610	T	-0.449748	0.01133	T	-0.526324	0.19657	T	0.0628724261555497	0.07613	T	0.854615	0.55333	D	0.13093469	0.30536	0.15020396	0.35434	0.13093469	0.30536	0.15020396	0.35433	-10.266	0.75489	D	.	.	0.075	0.11124	B	.;.	.;.	3.200227	0.43516	21.7	0.91625284323860001	0.20910	0.24013	0.22260	N	ALL	0.198363	0.32523	N	-0.529722731927985	0.21124	1.118743	-0.422529508335363	0.24337	1.332168	0.999999996366193	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.66	3.78	0.42629	3.094000	0.49919	4.918000	0.46015	-0.187000	0.09635	0.050000	0.21411	0.592000	0.25676	0.996000	0.76049	0.0:0.7684:0.1503:0.0813	8.737	0.33695	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	956.33	34	chr7	12640459	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.062;DP=698;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.397;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	18	0	1	0
chr7	16376117	16376117	T	C	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101426:exon3:c.A659G:p.D220G,CRPPA:NM_001368197:exon3:c.A659G:p.D220G	.	1	1520	1	0	0	1	0.000328839	.	.	.	1672683	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7	MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.713	0.105602096853	.	.	1.911e-05	0	0	0	0	3.493e-05	0	0	6.5e-06	1	154602	rs769223335	2.755e-06	2.736e-06	4.105e-06	1.386e-06	0.0002	6.5e-07	4.4e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.806e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.021	0.58089	D	0.987	0.61912	D	0.872	0.61918	P	0.000256	0.46924	U	0.134219	0.999973	0.81001	D	1.765	0.45800	L	-2.06	0.85875	D	-4.17	0.75456	D	0.673	0.68082	0.198	0.85880	D	0.573	0.84559	D	10	0.783224	0.78029	D	0.105602	0.78080	D	0.713	0.89786	0.632	0.76810	0.719366664385	0.71689	0.7698170074644239	0.76930	0.245858011907	0.27107	0.558140695095	0.47005	T	0.570025	0.85747	D	0.104803	0.64806	D	-0.0872339	0.64370	T	0.991088271141052	0.81338	D	0.80302	0.45008	T	0.7297932	0.79711	0.42601147	0.66392	0.7297932	0.79713	0.42601147	0.66392	-6.506	0.50333	T	0.396397494475836	0.48888	0.133	0.28636	B	.	.	4.704964	0.75520	26.3	0.99853291674221578	0.93279	0.96968	0.71932	D	AEFI	0.869863	0.79058	D	0.55612895679614	0.70455	5.504166	0.603406204131236	0.75186	6.26638	0.995866197382021	0.34373	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.38	5.38	0.77279	7.206000	0.77400	4.210000	0.42525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.691	0.77208	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1054.33	35	chr7	16376117	.	T	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.782;DP=702;ExcessHet=0;FS=1.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.371;SOR=0.439	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1147	18	0	1	0
chr7	17339293	17339293	A	G	exonic	AHR	.	nonsynonymous SNV	AHR:NM_001621:exon10:c.A1468G:p.M490V	.	417	1061	44	0	0	44	0.0203139	.	.	.	1155650	AHR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	0.00592794406859	0.0010	0.00139776	0.0019	0.0005	0.0038	0.0002	0	0.0023	0.0044	0.0010	0.0017852	276	154602	rs61755968	0.0015	0.0015	0.0015	0.0016	0.0333	0.0015	0.0014	0.0294	0.0280	0.0014	0.0044	0.0103	2.519e-05	1.872e-05	0.0333	0.0011	0.0035	0.0013	0.0018	0.0018	0.0020	0.0015	0.0043	0.0016	0.0015	0.0034	0.0031	0.0004	0	0.0043	0.0089	0	0	0.0680	0.0017	0.0061	0.0010	0.686	0.04353	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.386539	0.04452	N	1.295330	1	0.08975	N	-0.805	0.01590	N	3.6	0.04494	T	-0.26	0.11185	N	0.022	0.00372	-0.9222	0.45252	T	0.004	0.01470	T	10	0.003658086	0.00067	T	0.005928	0.15460	T	0.009	0.00846	.	.	0.204265027416	0.20035	0.17086664397383802	0.17006	0.114153396927	0.12873	0.218387007713	0.01219	T	0.085885	0.37601	T	-0.77272	0.00012	T	-0.877045	0.00679	T	0.00502727211406991	0.00054	T	0.260774	0.04184	T	0.0338362	0.03680	0.029485425	0.01292	0.0338362	0.03680	0.029485425	0.01292	-2.536	0.06032	T	.	.	0.052	0.00361	B	.;.;.	.;.;.	-1.957283	0.00111	0.002	0.38163772742654201	0.02558	0.05044	0.10831	N	AEFDGBHCI	0.047190	0.07918	N	-1.65382777947741	0.01019	0.04417788	-1.71530635961718	0.01071	0.04809935	0.99999999992978	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.658983	0.55881	0	0.725737	0.93299	0	.	.	5.8	-9.3	0.00551	-0.989000	0.03846	-6.376000	0.01416	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3884:0.2679:0.3437:0.0	9.114	0.35907	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030715	0.020202	0.020380	0.093567	0.000000	0.025862	0.012195	0.015152	0.05263	4035.83	33	chr7	17339293	.	A	G	4035.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.87;DP=884;ExcessHet=0.119;FS=10.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.34;SOR=1.052	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	17	0	2	0
chr7	19708955	19708955	C	T	exonic	POLR1F	.	nonsynonymous SNV	POLR1F:NM_001002926:exon1:c.G62A:p.G21E	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0189225416184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478587636	3.425e-06	3.42e-06	2.726e-06	4.131e-06	2.988e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.988e-05	2.236e-05	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.032	0.53426	D	0.995	0.67487	D	0.795	0.57940	P	0.130962	0.18639	N	0.495656	1	0.08975	N	2.3	0.65703	M	.	.	.	-0.67	0.19297	N	0.26	0.29429	-1.0487	0.14761	T	0.077	0.30828	T	9	0.1816032	0.33399	T	0.018923	0.41136	T	0.096	0.27654	0.409	0.44395	0.427368086475	0.42351	0.37704136650746156	0.37619	0.560863490715	0.52604	0.650803565979	0.60099	T	0.030444	0.21578	T	-0.173059	0.24774	T	-0.403498	0.32978	T	0.48279470205307	0.32000	T	0.552145	0.19060	T	0.04633614	0.07737	0.10128874	0.24245	0.04633614	0.07737	0.10128874	0.24244	-3.874	0.21913	T	.	.	0.116	0.23360	B	.	.	2.261791	0.28903	17.95	0.98574559992128763	0.43154	0.07753	0.13753	N	ALL	0.052203	0.09295	N	-0.531011995072891	0.21083	1.116281	-0.702932356322393	0.16887	0.8954774	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.67	1.6	0.22686	-0.111000	0.10778	-0.056000	0.12484	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.1552:0.5398:0.305:0.0	8.226	0.30728	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1453.33	37	chr7	19708955	.	C	T	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=730;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.098;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr7	20158325	20158325	T	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.A2036T:p.E679V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0298326516708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.051	0.47828	T	0.883	0.48537	P	0.368	0.43478	B	0.000003	0.62929	D	0.136950	0.99807	0.44481	D	2.635	0.77114	M	1.35	0.34648	T	-3.16	0.64246	D	0.372	0.42149	-0.9316	0.43903	T	0.117	0.41187	T	10	0.2890139	0.46483	T	0.029833	0.52270	D	0.102	0.29158	0.264	0.20946	0.283761946502	0.27984	0.3230106714775684	0.32214	0.0720758104395	0.08078	0.309594452381	0.11846	T	0.046563	0.27461	T	-0.0723116	0.40957	T	-0.341647	0.40157	T	0.958733201026917	0.65348	D	0.762724	0.38847	T	0.22176361	0.44760	0.20196064	0.44201	0.22176361	0.44760	0.20196064	0.44200	-5.204	0.38982	T	.	.	0.157	0.34689	B	.;.;.	.;.;.	3.661520	0.52017	23.2	0.98903330883511165	0.48235	0.97743	0.76812	D	AEFBI	0.804244	0.72916	D	0.348967358621701	0.58686	4.042279	0.357831462379563	0.58980	4.072275	0.999999640354017	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.503917	0.08554	0	.	.	5.62	5.62	0.85714	5.073000	0.64223	6.198000	0.54856	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:0.0:1.0	15.810	0.78327	844	0.36711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1868.33	33	chr7	20158325	.	T	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.952;DP=737;ExcessHet=0;FS=2.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.6;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr7	20158698	20158698	C	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.G1663T:p.V555L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0063	0.00698882	0.0023	0.0198	0.0019	0	0.0005	0.0007	0.0011	0.0002	0.0022703	351	154602	rs34476934	0.0012	0.0012	0.0013	0.0011	0.0195	0.0011	0.0011	0.0183	0.0178	0.0195	0.0019	3.828e-05	5.04e-05	0.0002	0.0158	0.0007	0.0025	0.0004	0.0060	0.0060	0.0060	0.0060	0.0195	0.0057	0.0056	0.0184	0.0180	0.0195	0	0.0035	0	0.0002	0.0004	0.0204	0.0004	0.0047	0.0002	0.236	0.17940	T	0.28	0.21678	T	0.797	0.44809	P	0.453	0.46205	P	0.000000	0.84330	D	0.053166	0.999998	0.58761	D	1.81	0.47622	L	2.93	0.09822	T	-1.51	0.36787	N	0.467	0.50868	-1.1228	0.02162	T	0.021	0.08639	T	10	0.007229477	0.00164	T	.	.	.	0.119	0.33137	0.358	0.36060	0.330069100803	0.32608	0.4445489742465957	0.44372	0.0401084390643	0.04292	0.365905284882	0.20243	T	0.016019	0.13326	T	-0.575668	0.00205	T	-0.582098	0.14359	T	0.0214443864775538	0.00847	T	0.693931	0.30359	T	0.15606171	0.35237	0.16399838	0.38014	0.15606171	0.35237	0.16399838	0.38013	-6.495	0.50248	T	.	.	0.244	0.49893	B	.;.;.	.;.;.	1.739059	0.22131	15.49	0.96619238798312734	0.30473	0.74214	0.36302	D	AEFDGBHCI	0.514073	0.54160	D	0.0042814080960758	0.42049	2.526362	-0.0410270374019628	0.37882	2.224042	0.99999997014434	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.94	0.64645	1.109000	0.30749	-0.074000	0.12261	0.599000	0.40250	0.394000	0.26121	0.000000	0.08366	0.412000	0.27050	0.0:0.8607:0.0:0.1393	11.944	0.52203	845	0.36510	SH3 domain;SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.020202	0.019022	0.038012	0.050000	0.025862	0.003049	0.000000	0.05263	5188.81	33	chr7	20158698	.	C	A	5188.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.63;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	1	0	0
chr7	20159793	20159793	G	-	exonic	MACC1	.	frameshift deletion	MACC1:NM_182762:exon5:c.568delC:p.R190Afs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs749160800	9.03e-05	9.098e-05	3.403e-05	0.0001	0.0015	7.757e-05	7.3e-05	0.0013	0.0012	2.987e-05	0	0	0	0	0	0	3.312e-05	0.0015	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2293.29	49	chr7	20159792	.	CG	C	2293.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=865;ExcessHet=0;FS=6.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.55;SOR=0.38	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr7	20685702	20685702	A	T	exonic	ABCB5	.	stopgain	ABCB5:NM_178559:exon7:c.A541T:p.K181X,ABCB5:NM_001163941:exon16:c.A1876T:p.K626X	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00758786	0.0023	0.0257	0.0009	0	0	3.067e-05	0	6.453e-05	0.0021474	332	154602	rs76179099	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0006	0.0249	0.0243	0.0263	0.0011	0	0	0	0.0007	8.126e-06	0.0014	3.573e-05	0.0072	0.0072	0.0074	0.0069	0.0252	0.0068	0.0067	0.0239	0.0234	0.0252	0	0.0021	0	0	0	0	5.88e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	0.388430	0.04462	N	1.482100	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.722	0.74826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201789	0.74059	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	7.553027	0.96632	36	0.99502618475008553	0.68147	0.52285	0.29095	D	AEBI	0.144987	0.26809	N	0.33965125309602	0.58197	3.990453	0.0969311068654717	0.44393	2.722009	2.48194598672469E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	1.68	0.23219	1.030000	0.29760	2.738000	0.34441	0.681000	0.82415	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.6835:0.2081:0.1085:0.0	4.181	0.09839	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1283.33	33	chr7	20685702	.	A	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-2.156;SOR=0.75	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr7	20704737	20704737	T	G	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_178559:exon11:c.T1016G:p.F339C,ABCB5:NM_001163941:exon20:c.T2351G:p.F784C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	.	0.0038	0.00199681	0.0008	0.0087	0	0	0	3.006e-05	0	0	0.0007115	110	154602	rs139933666	0.0003	0.0003	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0003	0	0	0	0	6.567e-05	0.0007	5.801e-05	0.0026	0.0026	0.0026	0.0026	0.0092	0.0024	0.0023	0.0084	0.0081	0.0092	0	0.0010	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000642	0.42656	D	0.095941	0.771236	0.34153	D	3.035	0.86516	M	-2.04	0.85703	D	-7.05	0.93856	D	0.834	0.82964	0.685	0.92994	D	0.732	0.90837	D	10	0.033290416	0.01501	T	.	.	.	0.817	0.94123	.	.	0.897222357536	0.89620	0.7056507071302257	0.70507	0.0361349943124	0.03815	0.593514084816	0.51990	T	0.66355	0.89932	D	-0.211715	0.19138	T	-0.070917	0.65561	T	0.123492366430861	0.14768	T	0.89651	0.63872	D	0.8724793	0.89058	0.8597702	0.92163	0.8724793	0.89060	0.8597702	0.92163	-11.892	0.85224	D	.	.	0.716	0.81965	P	.;.	.;.	4.331766	0.66382	25.0	0.98927592644743101	0.48676	0.84143	0.43227	D	AEFBI	0.334061	0.43295	N	0.572786599452838	0.71478	5.657222	0.433403359916189	0.63657	4.604017	2.48976572173648E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.47	0.38831	2.175000	0.42119	3.427000	0.38290	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1758:0.0:0.0:0.8242	8.746	0.33750	923	0.18507	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1410.33	35	chr7	20704737	.	T	G	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.434;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1493	18	0	1	0
chr7	21429506	21429506	A	G	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon3:c.A290G:p.E97G,SP4:NM_003112:exon3:c.A341G:p.E114G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00803995899921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.459	0.12632	T	0.079	0.24468	B	0.025	0.20508	B	0.000003	0.62929	D	0.102142	0.995289	0.42623	D	0.785	0.19527	N	2.89	0.10196	T	0.21	0.04776	N	0.416	0.45615	-0.9344	0.43485	T	0.154	0.48430	T	10	0.2059994	0.36845	T	0.00804	0.21316	T	0.093	0.26882	0.096	0.01287	0.0934897674506	0.08844	0.33968587939884365	0.33881	0.0504775060377	0.05541	0.570660710335	0.48771	T	0.166725	0.51307	T	-0.180744	0.23625	T	-0.497403	0.22619	T	0.877814710140228	0.52773	D	0.828317	0.49240	T	0.14926556	0.34037	0.17624973	0.40146	0.14926556	0.34037	0.17624973	0.40145	-2.599	0.06496	T	.	.	0.173	0.37895	B	.;.	.;.	3.776235	0.54268	23.5	0.99451278216093142	0.65274	0.93896	0.59505	D	AEFBCI	0.761979	0.69953	D	0.211752953348095	0.51767	3.355538	0.304430363332128	0.55800	3.742778	0.999999734972541	0.74766	0.653281	0.48532	0	0.516746	0.08562	0	0.694767	0.63188	0	0.669	0.65921	0	.	.	4.46	4.46	0.53567	7.000000	0.76045	11.250000	0.90713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.927	0.63476	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2620.33	42	chr7	21429506	.	A	G	2620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=1047;ExcessHet=0;FS=1.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.473;SOR=0.546	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	18	0	1	0
chr7	21511066	21511066	C	T	exonic	SP4	.	nonsynonymous SNV	SP4:NM_001326542:exon6:c.C2101T:p.R701W,SP4:NM_001326543:exon6:c.C1213T:p.R405W,SP4:NM_003112:exon6:c.C2152T:p.R718W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.031672616758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.001577	0.38612	N	0.248046	0.999998	0.58761	D	1.64	0.41913	L	1.25	0.36512	T	-7.42	0.94814	D	0.802	0.79792	-0.9120	0.46607	T	0.142	0.46312	T	10	0.7571423	0.76068	D	0.031673	0.53701	D	0.445	0.74727	0.666	0.80401	0.673681415582	0.67091	0.8579082905841405	0.85753	1.17310091771	0.79820	0.945979356766	0.99651	D	0.455742	0.79477	T	0.216361	0.75430	D	0.0730106	0.75110	D	0.998314738273621	0.93807	D	0.789121	0.42899	T	0.62995964	0.74296	0.6306471	0.78454	0.62995964	0.74297	0.6306471	0.78455	-13.716	0.92097	D	.	.	0.999	0.98051	P	.;.	.;.	5.614001	0.92552	32	0.9990979784252213	0.97949	0.93416	0.58159	D	AEFBI	0.675378	0.64078	D	0.294174035096789	0.55852	3.749411	0.257726746717403	0.53090	3.479783	5.3727885084421E-4	0.07248	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	2.12	0.26372	1.363000	0.33763	2.160000	0.30975	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5471:0.4529:0.0:0.0	13.296	0.59734	686	0.59327	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1268.33	34	chr7	21511066	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=710;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.967;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr7	21599938	21599938	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon15:c.C2819T:p.P940L	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2882539	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.141	0.0039858841766	.	.	5.903e-05	0	8.876e-05	0	0	1.526e-05	0	0.0003	5.17e-05	8	154602	rs772478778	1.369e-05	1.368e-05	1.362e-05	1.376e-05	6.958e-05	8.94e-06	7.27e-06	2.996e-05	2.038e-05	2.988e-05	6.719e-05	0	0	0	0	8.096e-06	1.657e-05	6.958e-05	1.975e-05	1.972e-05	2.574e-05	1.348e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0.0002	0.449	0.09022	T	.	.	.	0.491	0.36960	P	0.024	0.20255	B	0.379787	0.04413	N	1.317860	0.999997	0.08975	N	1.09	0.27330	L	1.95	0.22474	T	-1.47	0.35991	N	0.199	0.23506	-0.9264	0.44659	T	0.039	0.16892	T	9	0.09893462	0.17921	T	0.003986	0.09431	T	0.141	0.37795	0.508	0.60386	0.28722502521	0.28325	0.28122033288831777	0.28035	.	.	0.321172863245	0.13599	T	0.023394	0.17867	T	-0.391589	0.02628	T	-0.596667	0.13093	T	0.0573319345712662	0.06742	T	0.589541	0.21661	T	0.1312531	0.30600	0.17058907	0.39179	0.1312531	0.30600	0.17058907	0.39178	-3.685	0.19097	T	0.2820152151566045	0.37747	0.085	0.10400	B	.;.;.	.;.;.	1.558008	0.19961	14.52	0.29414957419694338	0.01559	0.13888	0.18107	N	AEFBI	0.141550	0.26375	N	-0.338500464150444	0.27697	1.522	-0.327001287656479	0.27229	1.509501	0.00316778738823687	0.09966	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	1.951000	0.39958	3.317000	0.37513	-0.173000	0.11020	0.009000	0.18154	0.440000	0.24899	0.335000	0.25317	0.0:1.0:0.0:0.0	19.519	0.95171	690	0.58899	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2240.33	45	chr7	21599938	.	C	T	2240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=797;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.75;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	18	0	1	0
chr7	21617725	21617725	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon23:c.A4202G:p.Q1401R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1473	48	1	0	50	0.0166889	.	.	.	252688	not_specified|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	.	0.0010	0.00259585	0.0026	0	0.0006	0	0	0.0017	0.0034	0.0114	0.0023092	357	154602	rs199629774	0.0016	0.0016	0.0013	0.0019	0.0112	0.0015	0.0015	0.0107	0.0104	0.0003	0.0003	0.0049	2.519e-05	0.0001	0.0101	0.0009	0.0018	0.0112	0.0010	0.0010	0.0008	0.0012	0.0083	0.0009	0.0008	0.0063	0.0055	0.0001	0	0.0006	0.0058	0.0002	0	0.0034	0.0011	0.0005	0.0083	0.083	0.33091	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	.	.	.	0.27	0.59176	T	-3.39	0.66896	D	0.586	0.62950	-0.8927	0.48696	T	0.192	0.54477	T	9	0.010043949	0.00225	T	.	.	.	0.237	0.54074	.	.	0.511503663882	0.50791	0.20893293679731403	0.20809	.	.	0.381819546223	0.22515	T	0.41079	0.76543	T	-0.368029	0.03695	T	-0.291036	0.45666	T	0.0379698708326417	0.03327	T	0.854315	0.54093	D	0.41109198	0.61492	0.391699	0.63934	0.44120803	0.63481	0.39904547	0.64478	-6.735	0.52073	T	0.5885128790951722	0.65531	0.098	0.16099	B	.;.;.	.;.;.	2.859971	0.37787	20.6	0.99761483852063804	0.85091	0.74822	0.36612	D	AEFBCI	0.597612	0.59133	D	0.25268694175051	0.53772	3.544679	0.276227376072199	0.54154	3.581354	0.999999802838549	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.6	4.45	0.53365	5.182000	0.64897	4.171000	0.42274	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.923:0.0:0.077:0.0	10.531	0.44164	669	0.61081	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.002924	0.000000	0.000000	0.009146	0.026515	0.02632	1618.33	34	chr7	21617725	.	A	G	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.059;DP=802;ExcessHet=0;FS=5.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.12;SOR=0.508	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr7	21739662	21739662	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon48:c.C7903T:p.P2635S	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2890160	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.300	0.0354828552397	.	0.000199681	8.291e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs572404327	4.112e-06	4.104e-06	4.09e-06	4.134e-06	5.042e-05	1.48e-06	9.7e-07	8.35e-06	3.13e-06	0	0	0	5.042e-05	0	0	1.801e-06	0	2.338e-05	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.111	0.29029	T	0.051	0.47828	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999911	0.51042	D	.	.	.	0.75	0.50192	T	-5.07	0.82830	D	0.435	0.47395	-0.7074	0.60080	T	0.251	0.62084	T	9	0.5724717	0.65395	D	0.035483	0.56377	D	0.300	0.62068	0.598	0.72862	0.49376247819	0.49010	0.357540893155694	0.35668	.	.	0.480453908443	0.36119	T	0.346306	0.71459	T	-0.265309	0.12285	T	-0.393173	0.34180	T	0.765690863132477	0.44183	D	0.962504	0.88224	D	0.37950653	0.59281	0.47665557	0.69677	0.37950653	0.59281	0.47665557	0.69678	-5.914	0.45554	T	0.4145619030192883	0.50432	0.097	0.36830	B	.;.;.;.	.;.;.;.	2.360722	0.30275	18.39	0.997798602918746	0.86693	0.95211	0.63849	D	AEFBI	0.535334	0.55400	D	0.379276934710121	0.60300	4.217494	0.321816311261311	0.56824	3.846401	0.998029065147859	0.36327	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	2.669000	0.46490	4.846000	0.45329	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.277000	0.23942	0.0:0.9299:0.0:0.0701	14.991	0.71043	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	897.33	46	chr7	21739662	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.154;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.264;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1755:.	18	0	1	0
chr7	21744490	21744490	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon50:c.A8207G:p.H2736R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437911	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00115693688669	.	.	.	.	.	.	.	.	.	.	.	.	.	rs956981336	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.076480	0.21161	N	0.553128	0.998676	0.21993	N	.	.	.	1.92	0.23082	T	2.83	0.00167	N	0.129	0.14763	-0.9645	0.38310	T	0.021	0.08870	T	9	0.06853703	0.09707	T	0.001157	0.01459	T	0.044	0.11924	0.56	0.67958	0.168933306366	0.16529	0.2589773304811134	0.25811	.	.	0.204482778907	0.00599	T	0.060945	0.31522	T	-0.438804	0.01314	T	-0.785223	0.02299	T	0.0464351775292403	0.04862	T	0.628837	0.24395	T	0.04259421	0.06487	0.0632749	0.12510	0.04259421	0.06487	0.0632749	0.12510	-2.241	0.04244	T	0.08490558911484472	0.04735	0.056	0.00496	B	.;.;.	.;.;.	-0.618862	0.01521	0.097	0.13721626109692214	0.00280	0.04708	0.10398	N	AEFBI	0.045970	0.07580	N	-0.990936208901413	0.08797	0.4138275	-0.922245297356895	0.11570	0.5902183	1.55381616399523E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	1.63	0.22882	-0.264000	0.08683	-1.396000	0.05538	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.550000	0.30174	0.374:0.0:0.4974:0.1286	5.683	0.17058	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1077.33	34	chr7	21744490	.	A	G	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=718;ExcessHet=0;FS=1.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.925;SOR=0.884	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr7	21744549	21744549	T	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon50:c.T8266C:p.C2756R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	240054	not_specified|not_provided|Primary_ciliary_dyskinesia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0055	0.00439297	0.0016	0.0193	0.0004	0	0	0	0	0	0.0015071	233	154602	rs74667361	0.0005	0.0005	0.0006	0.0004	0.0202	0.0005	0.0005	0.0189	0.0184	0.0202	0.0006	0	0	0	0	2.698e-06	0.0010	1.163e-05	0.0054	0.0054	0.0055	0.0053	0.0190	0.0051	0.0050	0.0179	0.0174	0.0190	0	0.0014	0	0	0	0	4.41e-05	0.0052	0	0.112	0.28900	T	.	.	.	.	.	.	.	.	.	0.033534	0.24886	N	0.467062	0.994164	0.23574	N	.	.	.	1.15	0.38236	T	-2.45	0.53577	N	0.804	0.79986	-1.0389	0.17648	T	0.027	0.11397	T	9	0.0057400465	0.00128	T	.	.	.	0.058	0.16647	.	.	0.293147016451	0.28931	0.36782963236323096	0.36696	.	.	0.314025998116	0.12516	T	0.084659	0.37328	T	-0.481788	0.00722	T	-0.449895	0.27709	T	0.00774486285346251	0.00090	T	0.262774	0.04248	T	0.40645915	0.61178	0.4431147	0.67538	0.47175798	0.65399	0.5964186	0.76568	-3.667	0.18832	T	0.1910642541426416	0.25055	0.089	0.12181	B	.;.;.	.;.;.	1.841954	0.23403	16.00	0.94788829430699195	0.25527	0.19787	0.20795	N	AEFBI	0.170020	0.29690	N	-0.466206023568886	0.23195	1.243813	-0.388339014209686	0.25344	1.393155	6.96752173028097E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	3.48	0.38946	0.802000	0.26730	0.502000	0.19004	0.665000	0.62972	0.001000	0.13787	0.049000	0.21787	0.924000	0.46004	0.1207:0.0654:0.0:0.814	8.102	0.30022	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1089.33	34	chr7	21744549	.	T	C	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=718;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.387;SOR=0.443	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr7	21744915	21744915	C	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon51:c.C8362G:p.H2788D	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	240055	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.257	.	0.0047	0.00359425	0.0017	0.0187	0.0004	0	0	0	0	0	0.0011707	181	154602	rs147478795	0.0004	0.0004	0.0005	0.0003	0.0162	0.0004	0.0004	0.0151	0.0146	0.0162	0.0004	0	0	0	0	1.801e-06	0.0008	0	0.0044	0.0044	0.0046	0.0042	0.0153	0.0041	0.0040	0.0144	0.0140	0.0153	0	0.0012	0	0	0	0	4.41e-05	0.0047	0	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.098316	0.999997	0.58761	D	.	.	.	2.17	0.19020	T	-8.38	0.97104	D	0.89	0.88909	-1.1219	0.02215	T	0.047	0.20077	T	9	0.0115222335	0.00251	T	.	.	.	0.257	0.56827	.	.	0.355242300401	0.35136	0.47563588646751565	0.47482	.	.	0.527528524399	0.42687	T	0.46318	0.79924	T	-0.402553	0.02228	T	-0.338692	0.40492	T	0.108831969042771	0.13302	T	0.943806	0.78763	D	0.45328313	0.64249	0.3717385	0.62397	0.34275696	0.56498	0.39205214	0.63960	-6.926	0.53492	T	0.5210388541771183	0.59330	0.259	0.49373	B	.;.;.;.	.;.;.;.	3.818327	0.55117	23.6	0.98657961724892762	0.44289	0.98180	0.80296	D	AEFGBI	0.656338	0.62836	D	0.278169498278578	0.55043	3.668755	0.25751259454795	0.53077	3.478604	0.984219769245849	0.30682	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.52	0.54797	4.001000	0.56758	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.9181:0.0:0.0819	12.476	0.55154	854	0.34840	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1092.33	36	chr7	21744915	.	C	G	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.178;DP=748;ExcessHet=0;FS=2.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.251;SOR=1.001	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1448	18	0	1	0
chr7	21765584	21765584	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon55:c.A9097G:p.I3033V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	22	1489	11	0	0	11	0.00368016	.	.	.	174070	Primary_ciliary_dyskinesia_7|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.039	.	0.0025	0.00399361	0.0063	0.0008	0.0364	0	0.0005	0.0033	0.0036	0.0073	0.0055368	856	154602	rs72657373	0.0058	0.0053	0.0059	0.0058	0.0320	0.0057	0.0057	0.0305	0.0299	0.0009	0.0320	0.0001	5.572e-05	0.0006	0.0040	0.0054	0.0058	0.0072	0.0044	0.0044	0.0044	0.0045	0.0201	0.0042	0.0040	0.0182	0.0174	0.0011	0.0103	0.0201	0	0.0004	0.0003	0	0.0040	0.0068	0.0051	0.194	0.20835	T	.	.	.	.	.	.	.	.	.	0.001184	0.39899	N	0.247613	0.800678	0.34507	D	.	.	.	0.84	0.47477	T	-0.91	0.24460	N	0.374	0.41557	-1.0310	0.20131	T	0.040	0.17404	T	9	0.0049520135	0.00106	T	.	.	.	0.039	0.10176	.	.	0.381580015636	0.37765	0.11207342946929215	0.11136	.	.	0.292625129223	0.09305	T	0.041983	0.26036	T	-0.552335	0.00282	T	-0.54317	0.17987	T	0.017680647403807	0.00499	T	0.638236	0.25169	T	0.03997252	0.05618	0.16142091	0.37547	0.05323709	0.10044	0.16142091	0.37546	-4.699	0.33392	T	0.3301875093050713	0.42822	0.085	0.10111	B	.;.;.	.;.;.	2.258203	0.28851	17.93	0.97693311207874634	0.35388	0.64996	0.32590	D	ALL	0.175700	0.30288	N	-0.291058461570966	0.29493	1.635998	-0.151734843973245	0.33343	1.906233	0.999168480235904	0.38622	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	5.63	4.45	0.53365	1.368000	0.33820	4.501000	0.43609	0.750000	0.87069	0.656000	0.28225	0.999000	0.35428	0.988000	0.63387	0.7876:0.1396:0.0728:0.0	7.889	0.28828	845	0.36510	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02778	1219.71	95	chr7	21765584	.	A	G	1219.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.183;DP=1019;ExcessHet=0;FS=1.87;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.649;SOR=0.469	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1373	17	0	1	1
chr7	21784440	21784440	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon58:c.A9497G:p.Q3166R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1155658	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.297	0.0506212878366	.	0.000998403	0.0007	0	0	0	0	0	0.0013	0.0052	0.0005045	78	154602	rs562875579	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	2.699e-06	0.0004	0.0039	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.232e-05	0.0033	0.0028	0	0	6.539e-05	0	0	0	0	0	0	0.0048	0.214	0.19361	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.8	0.73845	T	-1.57	0.37955	N	0.31	0.37717	0.087	0.83932	D	0.574	0.84599	D	9	0.009508342	0.00214	T	0.050621	0.64320	D	0.297	0.61730	0.324	0.30549	0.727606065629	0.72519	0.5618559201112545	0.56112	.	.	0.461622297764	0.33533	T	0.249105	0.61900	T	-0.284787	0.10166	T	-0.181861	0.56351	T	0.152861912553343	0.17329	T	0.521748	0.17009	T	0.50749254	0.67533	0.53591233	0.73182	0.5536794	0.70161	0.56630623	0.74897	-3.432	0.15490	T	0.6100918150494773	0.67763	0.118	0.24260	B	.;.;.	.;.;.	3.038194	0.40726	21.2	0.99622092080066726	0.75473	0.98169	0.80199	D	AEFGBI	0.691215	0.65128	D	0.654088880841443	0.76635	6.522801	0.678525992507211	0.80752	7.369173	0.999951335561755	0.48110	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	3.806000	0.55288	8.050000	0.76353	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.805	0.78265	775	0.48401	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1089.33	40	chr7	21784440	.	A	G	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=758;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.273;SOR=1.116	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1323	18	0	1	0
chr7	21789251	21789251	A	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon61:c.A9935T:p.D3312V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	174072	Primary_ciliary_dyskinesia_7|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.538	.	0.0028	0.00259585	0.0056	0.0007	0.0249	0	0.0126	0.0068	0.0141	0.0026	0.002542	393	154602	rs72657389	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0035	0.0033	0.0005	0.0040	0.0004	0	0.0082	0.0038	0.0034	0.0032	0.0026	0.0031	0.0031	0.0028	0.0034	0.0041	0.0029	0.0028	0.0037	0.0036	0.0007	0	0.0037	0	0	0.0083	0.0068	0.0041	0.0038	0.0021	0.286	0.15201	T	.	.	.	.	.	.	.	.	.	0.000030	0.55875	D	0.187557	1	0.81001	D	.	.	.	-1.49	0.81235	T	-7.36	0.94647	D	0.526	0.57092	-0.2683	0.75857	T	0.430	0.77206	T	9	0.0102032125	0.00228	T	.	.	.	0.538	0.80664	.	.	0.799945450273	0.79807	0.48658905054583834	0.48578	.	.	0.455615311861	0.32711	T	0.501034	0.82140	D	-0.231305	0.16476	T	-0.105311	0.62983	T	0.0820514539010045	0.10248	T	0.949755	0.80719	D	0.5751885	0.71345	0.59625596	0.76557	0.6391338	0.74786	0.59921443	0.76721	-8.376	0.63605	D	0.3817097476684083	0.47606	0.1	0.17146	B	.;.;.	.;.;.	3.680988	0.52392	23.2	0.9458051893176187	0.25122	0.99249	0.93429	D	AEFBI	0.908300	0.86343	D	0.567287641523483	0.71141	5.605981	0.647639627601258	0.78435	6.875711	0.999974926614925	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	8.697000	0.91034	8.003000	0.76158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.496	0.84087	757	0.50970	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	866.33	36	chr7	21789251	.	A	T	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.912;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.292;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	18	0	1	0
chr7	21842551	21842551	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon66:c.A10699G:p.R3567G	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0126167074155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868671829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.043294	0.23754	N	0.487974	0.892839	0.35991	D	.	.	.	1.91	0.23283	T	-4.34	0.76822	D	0.498	0.53093	-1.0327	0.19586	T	0.063	0.26136	T	9	0.27566373	0.45126	T	0.012617	0.31353	T	0.084	0.24469	0.502	0.59460	0.158396225186	0.15383	0.6163855672618224	0.61570	.	.	0.270570456982	0.06215	T	0.452465	0.79278	T	-0.155711	0.27421	T	-0.461444	0.26441	T	0.976351976394653	0.71342	D	0.947705	0.79824	D	0.6501604	0.75372	0.5647834	0.74812	0.6501604	0.75374	0.5647834	0.74812	-12.694	0.88063	D	0.7842601577067425	0.86371	0.287	0.51925	B	.;.;.	.;.;.	2.271768	0.29037	17.99	0.98661224914175538	0.44331	0.95832	0.66344	D	AEFI	0.639987	0.61784	D	-0.257365783568565	0.30810	1.721472	-0.164416074320807	0.32858	1.873556	0.0281957390378895	0.13817	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.36	4.19	0.48645	2.744000	0.47126	5.291000	0.48208	-0.092000	0.16129	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.8501:0.1499:0.0:0.0	11.568	0.50072	753	0.51500	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr7	21842551	.	A	G	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=716;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.855;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr7	21880850	21880850	T	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon75:c.T12344G:p.I4115S	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	457654	DNAH11-related_disorder|Primary_ciliary_dyskinesia	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.265	0.105412801443	8.4e-05	0.000798722	0.0007	0	0.0005	0	0	3.027e-05	0	0.0043	0.0005563	86	154602	rs371418299	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	0.0002	0	0	0	0.0007	5.667e-05	0.0003	0.0043	0.0002	0.0002	0.0002	0.0003	0.0043	0.0002	0.0001	0.0029	0.0024	0	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0043	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.044911	0.999999	0.58761	D	.	.	.	2.96	0.09542	T	-5.24	0.83967	D	0.932	0.93723	-1.1658	0.00625	T	0.058	0.24391	T	9	0.058538407	0.06899	T	0.105413	0.78051	D	0.265	0.57870	.	.	0.369495900351	0.36555	0.6167708119509334	0.61609	.	.	0.463515728712	0.33793	T	0.244729	0.61390	T	-0.228327	0.16871	T	-0.10076	0.63341	T	0.226720764463084	0.21794	T	0.983302	0.94339	D	0.3558464	0.57518	0.51286536	0.71851	0.5564812	0.70317	0.48367858	0.70109	-12.167	0.85655	D	0.7819148214802626	0.86167	0.429	0.61166	A	.;.;.	.;.;.	3.395509	0.47037	22.4	0.99347331965914221	0.60452	0.98707	0.85832	D	AEFI	0.702132	0.65861	D	0.403546842696297	0.61617	4.365257	0.377833915972305	0.60201	4.205067	0.391294052646005	0.20049	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.66	4.52	0.54797	6.222000	0.72195	5.100000	0.47427	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.07:0.0:0.93	11.517	0.49780	850	0.35610	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1446.33	33	chr7	21880850	.	T	G	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=710;ExcessHet=0;FS=4.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=1.76;SOR=0.377	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1460,0,972	18	0	1	0
chr7	21894960	21894960	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon79:c.G13010A:p.S4337N	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	833491	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.025	0.00627586833149	.	.	3.314e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs759646661	2.805e-05	2.805e-05	3.676e-05	1.925e-05	0.0007	2.087e-05	1.878e-05	0.0005	0.0004	0.0007	4.472e-05	0	0	0	0.0002	8.994e-07	0.0002	1.159e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	0.0007	0	6.536e-05	0	0	0	0	0	0	0	0.17	0.22833	T	.	.	.	.	.	.	.	.	.	0.015892	0.28125	N	0.429079	0.907415	0.27578	N	.	.	.	3.1	0.08283	T	-1.01	0.26639	N	0.122	0.12055	-0.9923	0.32012	T	0.011	0.04369	T	9	0.0675143	0.09419	T	0.006276	0.16464	T	0.025	0.05312	.	.	0.197625483188	0.19356	0.23405766587631027	0.23320	.	.	0.388322114944	0.23433	T	0.04208	0.26068	T	-0.624988	0.00103	T	-0.75356	0.03349	T	0.0415845891454447	0.03978	T	0.69953	0.30934	T	0.051816516	0.09572	0.108928055	0.26246	0.051816516	0.09572	0.108928055	0.26246	-4.147	0.25980	T	0.3880020626094517	0.48155	0.082	0.08705	B	.;.;.	.;.;.	2.032996	0.25837	16.91	0.98162715966918979	0.38789	0.91354	0.53364	D	AEFGBI	0.375790	0.46018	N	-0.243154573469274	0.31376	1.758767	-0.0963521340901508	0.35541	2.057405	0.612803137491276	0.21818	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.62	2.59	0.30091	1.626000	0.36650	1.974000	0.30001	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.994000	0.71098	0.0967:0.3624:0.4073:0.1336	3.713	0.07957	842	0.36989	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	50.33	33	chr7	21894960	.	G	A	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.833;DP=782;ExcessHet=0;FS=61.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.951;SOR=6.351	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	18	0	1	0
chr7	21901054	21901056	AAG	-	exonic	DNAH11	.	nonframeshift deletion	DNAH11:NM_001277115:exon82:c.13351_13353del:p.K4451del	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	457033	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.662e-05	0	8.639e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs552487543	1.848e-05	1.847e-05	1.634e-05	2.064e-05	6.723e-05	1.266e-05	1.085e-05	1.783e-05	1.227e-05	0	6.723e-05	0	0	0	0	2.159e-05	0	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4340.29	40	chr7	21901053	.	CAAG	C	4340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.453;DP=1021;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.154;SOR=0.799	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1424	18	0	1	0
chr7	21903033	21903033	G	C	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141G:p.L381V,CDCA7L:NM_018719:exon9:c.C1279G:p.L427V,CDCA7L:NM_001127370:exon10:c.C1177G:p.L393V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0390033762269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.54	0.74080	M	0.45	0.57100	T	-2.77	0.58733	D	0.86	0.86085	-0.4355	0.70880	T	0.300	0.67148	T	10	0.92253935	0.91605	D	0.039003	0.58559	D	0.410	0.72176	0.839	0.94541	0.680292798238	0.67757	0.7623525284018635	0.76183	1.83450345228	0.92091	0.704043865204	0.67729	T	0.460071	0.79740	T	0.144075	0.68712	D	-0.030823	0.68314	D	0.997395753860474	0.91454	D	0.947805	0.90870	D	0.8036487	0.84139	0.7397539	0.84617	0.8036487	0.84141	0.7397539	0.84618	-10.929	0.79267	D	.	.	0.801	0.79647	P	.;.;.	.;.;.	5.324828	0.89372	30	0.99861258087818028	0.94002	0.99205	0.92781	D	AEFBI	0.757372	0.69635	D	0.682320948603142	0.78473	6.878936	0.65225693490391	0.78778	6.945406	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	322.46	145	chr7	21903033	.	G	C	322.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.82;DP=1144;ExcessHet=0.119;FS=211.169;InbreedingCoeff=-0.069;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.93;SOR=7.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr7	21903033	21903033	G	A	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141T:p.L381F,CDCA7L:NM_018719:exon9:c.C1279T:p.L427F,CDCA7L:NM_001127370:exon10:c.C1177T:p.L393F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0699454345617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299767891	6.842e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	0.34	0.58613	T	-3.74	0.71042	D	0.86	0.86941	0.027	0.82799	D	0.441	0.77928	T	10	0.9467933	0.94006	D	0.069945	0.70868	D	0.545	0.81077	0.858	0.95662	0.780657852685	0.77863	0.7880493888786723	0.78756	1.91311269366	0.92925	0.735585093498	0.72323	T	0.626378	0.88361	D	0.091594	0.63367	D	-0.106208	0.62911	T	0.998971581459045	0.95761	D	0.952605	0.92599	D	0.79861253	0.83817	0.76817507	0.86309	0.79861253	0.83818	0.76817507	0.86310	-9.477	0.70716	D	.	.	0.941	0.88401	P	.;.;.	.;.;.	5.421571	0.90701	31	0.99890813410612078	0.96513	0.98623	0.84820	D	AEFBI	0.700675	0.65762	D	0.795052017268525	0.85796	8.684041	0.724310667477347	0.84223	8.232992	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	322.46	145	chr7	21903033	.	G	A	322.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.82;DP=1144;ExcessHet=0.119;FS=211.169;InbreedingCoeff=-0.069;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.93;SOR=7.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr7	21903034	21903034	G	C	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1140G:p.I380M,CDCA7L:NM_018719:exon9:c.C1278G:p.I426M,CDCA7L:NM_001127370:exon10:c.C1176G:p.I392M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00744940412243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.17761	T	0.246	0.24264	T	0.549	0.38101	P	0.161	0.34794	B	0.000013	0.62929	D	0.145320	0.519053	0.31584	N	1.755	0.45626	L	0.77	0.50192	T	-1.52	0.36980	N	0.376	0.43514	-0.9515	0.40712	T	0.093	0.35336	T	10	0.36910453	0.53334	T	0.007449	0.19765	T	0.067	0.19503	0.713	0.84872	0.530852358449	0.52733	0.5385208609000753	0.53777	1.02496037696	0.75236	0.567820072174	0.48370	T	0.099752	0.40487	T	-0.1685	0.25463	T	-0.479815	0.24466	T	0.239356532692909	0.22390	T	0.739226	0.35772	T	0.13321584	0.30993	0.122075036	0.29450	0.13321584	0.30993	0.122075036	0.29449	-7.701	0.59126	D	.	.	0.178	0.38853	B	.;.;.	.;.;.	2.337519	0.29950	18.29	0.77285325382982761	0.11812	0.91246	0.53147	D	AEFBI	0.429229	0.49243	N	-0.244863286640542	0.31308	1.754263	-0.155350697975854	0.33203	1.89687	0.99681151548696	0.35031	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.22	2.21	0.27042	2.281000	0.43113	4.961000	0.46342	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1902:0.3273:0.4826:0.0	6.441	0.21053	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09091	39.57	145	chr7	21903034	.	G	C	39.57	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.907;DP=1379;ExcessHet=0.119;FS=168.119;InbreedingCoeff=-0.2036;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=1.42;SOR=9.19	GT:AD:DP:GQ:PL	./.:76,0:76:0:0,0,1829	9	0	2	8
chr7	22162524	22162524	T	C	exonic	RAPGEF5	.	nonsynonymous SNV	RAPGEF5:NM_001367600:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367601:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367603:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367602:exon6:c.A56G:p.Y19C,RAPGEF5:NM_012294:exon13:c.A1301G:p.Y434C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00627045640428	.	0.00179712	0.0010	0	0.0002	0.0005	0	1.509e-05	0	0.0067	0.000815	126	154602	rs149012757	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	0	2.238e-05	0	0.0002	0	0.0002	1.805e-06	0.0004	0.0063	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0.0002	0	0	0	0.0005	0.0060	0.194	0.23183	T	0.178	0.29639	T	0.001	0.07471	B	0.002	0.06944	B	0.042757	0.01910	N	2.040290	0.997198	0.46406	D	-0.205	0.04094	N	1.57	0.29342	T	-1.68	0.40082	N	0.16	0.20395	-1.1054	0.03497	T	0.055	0.23300	T	10	0.005539596	0.00122	T	0.00627	0.16464	T	0.105	0.29889	.	.	0.043077524339	0.03247	0.32520143649516375	0.32433	0.45283389639	0.44990	0.604388356209	0.53524	T	0.040148	0.25430	T	-0.543132	0.00321	T	-0.550336	0.17294	T	0.0459040038917785	0.04766	T	0.869813	0.57716	D	0.12545061	0.29409	0.13612239	0.32571	0.12545061	0.29409	0.13612239	0.32570	-4.951	0.36303	T	.	.	0.068	0.05935	B	.;.;.;.	.;.;.;.	2.964917	0.39502	21.0	0.97794036019166775	0.36020	0.90935	0.52541	D	AEFBI	0.523787	0.54725	D	-0.326651006946374	0.28140	1.549618	-0.121708509640263	0.34517	1.986328	0.116957862905447	0.16790	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.32	4.15	0.47978	2.954000	0.48806	5.062000	0.47097	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.134:0.0:0.0:0.866	11.565	0.50052	845	0.36510	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1306.33	52	chr7	22162524	.	T	C	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.199;DP=878;ExcessHet=0;FS=5.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.72;SOR=0.324	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr7	22731419	22731419	A	T	exonic	IL6	.	nonsynonymous SNV	IL6:NM_001318095:exon4:c.A257T:p.D86V,IL6:NM_000600:exon5:c.A485T:p.D162V,IL6:NM_001371096:exon5:c.A416T:p.D139V	.	0	1503	19	0	0	19	0.00628099	.	.	.	700001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0058	0.00279553	0.0062	0.0022	0.0009	0.0002	0.0083	0.0073	0.0067	0.0109	0.0060931	942	154602	rs2069860	0.0076	0.0076	0.0076	0.0077	0.0102	0.0075	0.0074	0.0097	0.0094	0.0009	0.0013	0.0003	2.566e-05	0.0080	0.0022	0.0083	0.0072	0.0102	0.0055	0.0055	0.0052	0.0058	0.0122	0.0052	0.0051	0.0097	0.0088	0.0016	0.0373	0.0014	0.0012	0	0.0064	0	0.0084	0.0038	0.0122	0.12	0.31235	T	0.083	0.41573	T	0.008	0.14655	B	0.014	0.16862	B	0.367792	0.04343	N	1.364740	0.999999	0.08975	N	0.28	0.10031	N	2.04	0.20808	T	-3.59	0.74821	D	0.174	0.19995	-1.0143	0.25561	T	0.027	0.11707	T	10	0.0041643977	0.00082	T	.	.	.	0.020	0.03691	.	.	0.252681307341	0.24864	0.34389171857635153	0.34303	0.254230594526	0.27993	0.233187764883	0.02212	T	0.217212	0.57960	T	-0.628139	0.00098	T	-0.66566	0.07889	T	0.00587453440975824	0.00064	T	0.675632	0.28413	T	0.5297624	0.68816	0.14002968	0.33391	0.5297624	0.68817	0.14002968	0.33390	-4.125	0.25658	T	.	.	0.140	0.30608	B	.;.;.;.	.;.;.;.	0.152254	0.05441	1.914	0.50400417520457252	0.04377	0.07023	0.13049	N	AEFDGBCIJ	0.075782	0.15228	N	-1.29959032119216	0.03681	0.1648611	-1.30987625810803	0.04302	0.2026087	0.999999999893954	0.74766	0.722319	0.85440	0	0.475579	0.06741	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.66	0.444	0.15803	-0.193000	0.09572	0.002000	0.13306	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5529:0.1477:0.1577:0.1417	1.436	0.02202	901	0.24189	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.05263	4043.81	33	chr7	22731419	.	A	T	4043.81	.	AC=2;AF=0.053;AN=38;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.63;SOR=1.162	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1353	18	1	0	0
chr7	23270036	23270036	C	G	exonic	GPNMB	.	nonsynonymous SNV	GPNMB:NM_001005340:exon9:c.C1326G:p.S442R,GPNMB:NM_002510:exon9:c.C1290G:p.S430R	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0135042549482	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0.0033	6.056e-05	0.0003169	49	154602	rs201324416	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0010	0.0039	0	3.744e-05	0.0038	0.0003	0.0008	0.0003	0.0004	0.0004	0.0004	0.0005	0.0016	0.0003	0.0003	0.0011	0.0009	4.814e-05	0	0.0016	0.0026	0	0	0.0034	0.0004	0.0014	0	0.011	0.57480	D	0.006	0.70582	D	0.302	0.35101	B	0.075	0.28327	B	0.119324	0.19078	N	0.550372	1	0.08975	N	1.24	0.30952	L	2.52	0.14284	T	-1.72	0.40850	N	0.249	0.29313	-1.0262	0.21690	T	0.025	0.10733	T	10	0.009191394	0.00208	T	0.013504	0.32951	T	0.028	0.06331	0.418	0.45873	0.363356657567	0.35953	0.42331066520073085	0.42248	0.0812915399549	0.09147	0.30528485775	0.11194	T	0.154275	0.49549	T	-0.556219	0.00267	T	-0.617298	0.11398	T	0.0176616899531179	0.00498	T	0.692631	0.35772	T	0.121337906	0.28535	0.118776895	0.28671	0.13537592	0.31420	0.090887845	0.21339	-5.145	0.38377	T	.	.	0.346	0.56304	A	.;.;.	.;.;.	1.366320	0.17758	13.35	0.97972316942777249	0.37261	0.31133	0.24260	N	AEFDBHCI	0.280975	0.39466	N	-0.550998794398071	0.20452	1.078265	-0.585051820037171	0.19883	1.068754	0.899729536003338	0.26058	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	3.19	0.35720	0.265000	0.18282	0.149000	0.15269	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1357:0.5715:0.1512:0.1415	3.927	0.08768	511	0.75131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1892.33	34	chr7	23270036	.	C	G	1892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=757;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=1.97;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1906,0,1268	18	0	1	0
chr7	23274204	23274204	G	T	exonic	GPNMB	.	stopgain	GPNMB:NM_001005340:exon11:c.G1699T:p.E567X,GPNMB:NM_002510:exon11:c.G1663T:p.E555X	.	429	1089	4	0	0	4	0.00183318	.	.	.	700006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00419329	0.0091	0.0007	0.0006	0	0.0664	0.0088	0.0154	0.0027	0.0080206	1240	154602	rs11537976	0.0065	0.0065	0.0065	0.0064	0.0043	0.0064	0.0063	0.0042	0.0041	0.0006	0.0016	0.0085	0	0.0697	0.0012	0.0043	0.0066	0.0029	0.0080	0.0081	0.0055	0.0107	0.0051	0.0077	0.0075	0.0046	0.0044	0.0008	0	0.0022	0.0092	0	0.0719	0.0034	0.0051	0.0052	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998413	0.44886	D	.	.	.	.	.	.	.	.	.	0.519	0.55019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196812	0.73595	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	6.715099	0.95633	35	0.97589917894241351	0.34786	0.12594	0.17363	N	AEFBI	0.131986	0.25112	N	0.133487670278204	0.48030	3.020667	-0.288374974748457	0.28480	1.588315	0.999582376456521	0.40607	0.615465	0.37627	0	0.587265	0.34161	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	-1.161000	0.06152	0.373000	0.20310	0.006000	0.17386	0.000000	0.08366	0.453000	0.27962	0.3027:0.0:0.6973:0.0	4.262	0.10196	512	0.75040	.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	565.33	31	chr7	23274204	.	G	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.16;SOR=0.85	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1169	18	0	1	0
chr7	23343720	23343720	T	C	exonic	IGF2BP3	.	nonsynonymous SNV	IGF2BP3:NM_006547:exon9:c.A1075G:p.N359D	.	527	987	6	2	0	10	0.00504032	0.5295	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00663718413662	0.0014	0.00139776	0.0016	0.0003	0.0003	0	0	0.0024	0	0.0015	0.0015265	236	154602	rs150697725	0.0015	0.0015	0.0014	0.0016	0.0113	0.0015	0.0014	0.0088	0.0079	0.0006	0.0010	0.0072	0	3.801e-05	0.0113	0.0014	0.0023	0.0017	0.0014	0.0014	0.0015	0.0013	0.0019	0.0013	0.0012	0.0016	0.0015	0.0002	0.0186	0.0010	0.0084	0.0002	0	0.0170	0.0019	0.0014	0.0019	0.086	0.32610	T	0.449	0.12993	T	0.57	0.38545	P	0.196	0.36635	B	0.000000	0.84330	D	0.043798	0.999999	0.58761	D	2.505	0.72935	M	2.47	0.14783	T	-2.63	0.56466	D	0.785	0.78167	-1.1069	0.03349	T	0.051	0.21572	T	10	0.01733157	0.00369	T	0.006637	0.17529	T	0.142	0.37995	.	.	0.573015231557	0.56968	0.8755917034805436	0.87526	0.820563155556	0.67147	0.787871837616	0.80119	T	0.226743	0.59185	T	-0.428993	0.01503	T	-0.395162	0.33948	T	0.0414881709879388	0.03961	T	0.80472	0.45238	T	0.57766545	0.71480	0.42031324	0.65998	0.57766545	0.71482	0.42031324	0.65998	-10.813	0.78622	D	.	.	0.550	0.66777	A	.	.	4.182213	0.62963	24.5	0.99646460069308629	0.77005	0.97419	0.74630	D	AEFBI	0.896416	0.83745	D	0.285496166847738	0.55413	3.705361	0.391027713869449	0.61009	4.295431	0.999999995737929	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	5.64	0.86480	6.136000	0.71452	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.862	0.78812	488	0.76887	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013295	0.019231	0.010959	0.038136	0.000000	0.008929	0.003623	0.008403	0.02632	1380.33	34	chr7	23343720	.	T	C	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.977;DP=747;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.941;SOR=0.608	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1394,0,1652	18	0	1	0
chr7	23521767	23521767	C	T	exonic	TRA2A	.	nonsynonymous SNV	TRA2A:NM_001362759:exon2:c.G110A:p.R37H,TRA2A:NM_013293:exon2:c.G110A:p.R37H	.	435	1086	1	0	0	1	0.000460193	.	.	.	3344026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00751783735624	0.0002	0.000199681	0.0001	0	8.639e-05	0.0001	0	0.0002	0.0011	6.056e-05	0.0001164	18	154602	rs142235949	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	0	8.944e-05	0	0	0	0	0.0002	0.0001	1.159e-05	8.538e-05	8.53e-05	8.994e-05	8.061e-05	0.0002	4.955e-05	3.961e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.102	0.38450	T	0.928	0.51611	P	0.211	0.37346	B	0.000005	0.62929	D	0.107611	0.99785	0.81001	D	1.59	0.40313	L	1.56	0.29602	T	-2.04	0.46842	N	0.22	0.24634	-1.1064	0.03398	T	0.058	0.24428	T	10	0.09479642	0.16883	T	0.007518	0.19952	T	0.074	0.21613	.	.	0.503002171853	0.49937	0.45606726026618916	0.45524	0.419777840034	0.42519	0.699258208275	0.67037	T	0.070395	0.33949	T	-0.325477	0.06459	T	-0.420588	0.31008	T	0.0828414907662746	0.10347	T	0.90391	0.66280	D	0.2643419	0.49501	0.24066816	0.49446	0.2643419	0.49501	0.24066816	0.49445	-7.39	0.56834	T	.	.	0.090	0.12560	B	.	.	4.594835	0.72715	25.9	0.99892039344409522	0.96589	0.91395	0.53447	D	AEFBCI	0.423558	0.48910	N	0.237528526161306	0.53026	3.473418	0.327152886140929	0.57140	3.878884	0.998858126885307	0.37823	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.05	0.67566	3.094000	0.49919	5.975000	0.52067	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1331:0.8669:0.0:0.0	16.360	0.83092	806	0.43582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	36	chr7	23521767	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=695;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.385;SOR=0.53	GT:AD:DP:GQ:PL	0/1:42,40:82:99:973,0,958	18	0	1	0
chr7	23754334	23754334	C	T	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon10:c.C1084T:p.R362C,STK31:NM_001260505:exon10:c.C1153T:p.R385C,STK31:NM_031414:exon10:c.C1153T:p.R385C,STK31:NM_032944:exon10:c.C1084T:p.R362C	.	434	1071	17	0	0	17	0.00787402	.	.	.	2828350	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0061	0.00499201	0.0068	0.0079	0.0041	0	0.0029	0.0085	0.0055	0.0066	0.0064165	992	154602	rs35995607	0.0053	0.0053	0.0051	0.0055	0.0182	0.0052	0.0052	0.0154	0.0144	0.0071	0.0045	0.0058	0	0.0024	0.0182	0.0054	0.0063	0.0062	0.0058	0.0058	0.0062	0.0053	0.0066	0.0055	0.0053	0.0060	0.0057	0.0066	0	0.0054	0.0069	0	0.0012	0.0476	0.0063	0.0052	0.0056	0.013	0.53900	D	0.015	0.62352	D	0.999	0.77913	D	0.642	0.52168	P	0.021224	0.26875	N	0.389451	0.929918	0.36941	D	2.595	0.75868	M	2.5	0.14408	T	-1.92	0.45042	N	0.343	0.38438	-1.1110	0.02985	T	0.036	0.15422	T	10	0.009837657	0.00221	T	.	.	.	0.093	0.26882	.	.	0.547935346631	0.54449	0.19538228019852213	0.19455	0.0756077643625	0.08487	0.288501888514	0.08704	T	0.002468	0.01855	T	-0.519283	0.00444	T	-0.512151	0.21094	T	0.0329286168080286	0.02460	T	0.813219	0.46599	T	0.09019154	0.21096	0.08130569	0.18466	0.09019154	0.21095	0.08130569	0.18466	-3.785	0.23203	T	.	.	0.081	0.08417	B	.;.;.	.;.;.	2.573741	0.33359	19.32	0.99892551323552004	0.96589	0.72330	0.35407	D	AEFI	0.321147	0.42403	N	0.203783876974777	0.51383	3.319915	0.148514036724127	0.47064	2.942268	3.88461111309461E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.504000	0.35333	0.349000	0.17458	-0.238000	0.07553	1.000000	0.71638	0.989000	0.31174	0.007000	0.07825	0.0:0.8376:0.0:0.1624	9.696	0.39321	633	0.64743	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.040404	0.025815	0.020468	0.000000	0.025862	0.006098	0.007576	0.02632	1656.33	34	chr7	23754334	.	C	T	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=746;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-2.777;SOR=0.882	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	18	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R,STK31:NM_001260505:exon16:c.A2051G:p.H684R,STK31:NM_031414:exon16:c.A2051G:p.H684R,STK31:NM_032944:exon16:c.A1982G:p.H661R	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019637	0.005051	0.006793	0.014620	0.000000	0.025862	0.030488	0.034091	0.02632	820.33	34	chr7	23781504	.	A	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.222;DP=704;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.576;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	18	0	1	0
chr7	24719102	24719102	A	G	exonic	GSDME	.	nonsynonymous SNV	GSDME:NM_001127454:exon3:c.T29C:p.M10T,GSDME:NM_001127453:exon4:c.T521C:p.M174T,GSDME:NM_004403:exon4:c.T521C:p.M174T	.	.	.	.	.	.	.	.	.	.	.	588525	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00456354103186	0.0030	0.00139776	0.0007	0.0077	0.0003	0	0	1.5e-05	0.0011	0	0.0006015	93	154602	rs876306	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0004	0	0	0	0.0002	4.676e-05	0.0005	3.478e-05	0.0022	0.0022	0.0024	0.0021	0.0075	0.0020	0.0019	0.0068	0.0066	0.0075	0	0.0008	0	0	0	0	0.0001	0.0028	0	0.373	0.11442	T	0.307	0.33666	T	0.0	0.02946	B	0.0	0.01387	B	0.523022	0.11720	N	0.789923	1	0.08975	N	.	.	.	2.06	0.20523	T	0.03	0.14000	N	0.028	0.01421	-1.0200	0.23715	T	0.032	0.13898	T	10	0.005858332	0.00131	T	0.004564	0.11252	T	0.099	0.28413	.	.	0.0482279557977	0.04254	0.3605440252673144	0.35968	0.0392535114486	0.04187	0.287370115519	0.08541	T	0.023282	0.17797	T	-0.49095	0.00642	T	-0.473146	0.25179	T	0.00156636646264023	0.00016	T	0.119088	0.00917	T	0.024248086	0.01238	0.05671405	0.10183	0.034166247	0.03782	0.05862566	0.10863	-0.542	0.03073	T	0.07537079903073311	0.03348	0.067	0.06849	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.286144	0.02679	0.345	0.41234736587768073	0.02962	0.03345	0.08429	N	AEFDGBHCI	0.050247	0.08764	N	-1.70819701500205	0.00813	0.03515243	-1.59698909256136	0.01673	0.07600303	0.999999995889377	0.74766	0.706298	0.61202	0	0.52208	0.09955	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.17	2.8	0.31881	0.309000	0.19094	2.218000	0.31426	-2.477000	0.00271	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.8347:0.0:0.1653:0.0	10.394	0.43372	621	0.65931	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	655.33	94	chr7	24719102	.	A	G	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.843;DP=996;ExcessHet=0;FS=3.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.4;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1094	18	0	1	0
chr7	24800272	24800272	C	T	exonic	OSBPL3	.	nonsynonymous SNV	OSBPL3:NM_145322:exon20:c.G2374A:p.D792N,OSBPL3:NM_145320:exon21:c.G2482A:p.D828N,OSBPL3:NM_145321:exon21:c.G2467A:p.D823N,OSBPL3:NM_015550:exon23:c.G2575A:p.D859N	.	434	1086	2	0	0	2	0.000919963	.	.	.	2199740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.00483296836751	0.0017	0.000199681	0.0015	0.0008	0.0013	0	0.0002	0.0023	0.0011	0	0.0014683	227	154602	rs139154799	0.0026	0.0026	0.0026	0.0025	0.0032	0.0025	0.0025	0.0031	0.0030	0.0005	0.0008	0	2.524e-05	0.0003	0.0005	0.0032	0.0027	0.0002	0.0016	0.0016	0.0018	0.0013	0.0029	0.0014	0.0014	0.0026	0.0024	0.0006	0	0.0008	0	0	0	0	0.0029	0.0019	0.0004	0.505	0.07895	T	0.495	0.11551	T	0.0	0.09854	B	0.001	0.10090	B	0.001336	0.00770	N	2.895850	1	0.08975	N	0	0.06538	N	1.57	0.29342	T	0.34	0.04613	N	0.123	0.20129	-1.0217	0.23162	T	0.046	0.19839	T	10	0.004227251	0.00084	T	0.004833	0.12098	T	0.089	0.25827	.	.	0.148003135375	0.14442	0.20764192985844782	0.20680	0.209537009466	0.23427	0.240830004215	0.02865	T	0.021369	0.16653	T	-0.670999	0.00054	T	-0.740298	0.03878	T	0.00253732858274185	0.00026	T	0.180682	0.12692	T	0.0354117	0.04162	0.033664394	0.02300	0.0354117	0.04162	0.033664394	0.02300	-2.842	0.09621	T	.	.	0.059	0.01309	B	.;.;.;.	.;.;.;.	-0.534657	0.01760	0.133	0.68708711832100777	0.08742	0.01195	0.04267	N	AEFBI	0.055205	0.10103	N	-1.79187971143166	0.00565	0.0243467	-1.89256791895863	0.00506	0.02243871	0.998561163611557	0.37206	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.633917	0.49826	0	.	.	5.31	-10.6	0.00212	0.269000	0.18354	-0.931000	0.06883	-2.911000	0.00159	0.026000	0.20160	0.000000	0.08366	0.002000	0.04165	0.0:0.6673:0.0:0.3327	19.763	0.96324	740	0.53092	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.000000	0.001359	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	649.33	50	chr7	24800272	.	C	T	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.573;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	18	0	1	0
chr7	26185497	26185497	T	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.T1799C:p.L600S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.380588506181	.	.	0.0001	9.634e-05	0	0	0	0.0003	0	0	0.0001682	26	154602	rs201193253	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	0.0009	0.0002	3.827e-05	0	0	0.0068	9.264e-05	0.0007	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.695e-05	0.0004	0.0003	7.218e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.973	0.72923	D	0.000024	0.55875	D	0.068748	0.999996	0.58761	D	3.205	0.89189	M	-3.16	0.92996	D	-5.45	0.85468	D	0.8	0.79599	1.033	0.97776	D	0.907	0.96906	D	10	0.9222318	0.91576	D	0.380589	0.92962	D	0.878	0.96391	.	.	0.9806713165	0.98045	0.7101372826163026	0.70955	0.00149504526027	0.00125	0.537696540356	0.44120	T	0.905708	0.98185	D	0.16052	0.70249	D	0.252479	0.85737	D	0.834231734275818	0.48863	D	0.886711	0.61387	D	0.883728	0.89976	0.8674998	0.92694	0.883728	0.89978	0.8674998	0.92694	-14.084	0.93326	D	.	.	0.866	0.80637	P	.	.	4.817783	0.78441	26.9	0.99864602292857774	0.94276	0.15873	0.19122	N	AEFDGBHCI	0.906109	0.85846	D	0.901294316490547	0.91824	11.08349	0.850617205461235	0.93051	11.79424	1.0	0.98316	0.78354	0.99714	0	0.827368	0.99789	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.71	5.71	0.89031	7.991000	0.87898	5.055000	0.47034	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.652	0.76863	747	0.52260	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006729	0.005376	0.012228	0.006211	0.000000	0.008621	0.000000	0.000000	0.05263	3371.83	35	chr7	26185497	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.369;DP=873;ExcessHet=0.119;FS=2.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.74;MQRankSum=1.14;QD=13.43;ReadPosRankSum=0.521;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	17	0	2	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1224:.	14	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1224:.	14	0	5	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2201.29	46	chr7	27095697	.	ATGGTGGTGG	A	2201.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1030;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=1.37;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1202.29	46	chr7	28956680	.	A	AGCTGCG	1202.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=1196;ExcessHet=0;FS=1.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.529;SOR=0.976	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr7	29086495	29086495	C	T	exonic	CPVL	.	nonsynonymous SNV	CPVL:NM_001371268:exon7:c.G418A:p.V140I,CPVL:NM_019029:exon7:c.G598A:p.V200I,CPVL:NM_031311:exon7:c.G598A:p.V200I,CPVL:NM_001348054:exon8:c.G598A:p.V200I,CPVL:NM_001371261:exon8:c.G598A:p.V200I,CPVL:NM_001371262:exon8:c.G598A:p.V200I,CPVL:NM_001348052:exon9:c.G598A:p.V200I,CPVL:NM_001371258:exon10:c.G598A:p.V200I,CPVL:NM_001371263:exon10:c.G598A:p.V200I,CPVL:NM_001371264:exon10:c.G598A:p.V200I,CPVL:NM_001371256:exon11:c.G598A:p.V200I,CPVL:NM_001371260:exon11:c.G598A:p.V200I,CPVL:NM_001371265:exon11:c.G388A:p.V130I,CPVL:NM_001371266:exon11:c.G388A:p.V130I,CPVL:NM_001371267:exon11:c.G388A:p.V130I,CPVL:NM_001371257:exon12:c.G598A:p.V200I,CPVL:NM_001371255:exon13:c.G598A:p.V200I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00457186787504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	0.474	0.12107	T	0.002	0.09854	B	0.007	0.12992	B	0.003620	0.34713	N	0.348390	0.863899	0.28313	N	-0.445	0.02820	N	1.87	0.24085	T	-0.62	0.23808	N	0.187	0.20395	-0.9990	0.30199	T	0.027	0.11574	T	10	0.15173405	0.28675	T	0.004572	0.11283	T	0.046	0.12618	0.423	0.46693	0.221019684889	0.21715	0.3241157832222144	0.32324	0.183562545926	0.20647	0.296965777874	0.09950	T	0.212838	0.66929	T	-0.221767	0.17753	T	-0.55633	0.16722	T	0.592502534389496	0.36105	D	0.844516	0.84537	T	0.050490197	0.09128	0.047061834	0.06697	0.050490197	0.09127	0.047061834	0.06697	-3.671	0.18891	T	.	.	0.092	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	1.706214	0.21731	15.32	0.67232685677065063	0.08293	0.92916	0.56863	D	AEFBI	0.576990	0.57876	D	-0.555380246501429	0.20314	1.070028	-0.344833430808529	0.26668	1.474579	0.986932409114669	0.31153	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.8	3.91	0.44383	3.903000	0.56031	1.444000	0.26551	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.938000	0.47775	0.0:0.8444:0.0:0.1556	11.388	0.49037	797	0.45241	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	41	chr7	29086495	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=664;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.34;SOR=0.694	GT:AD:DP:GQ:PL	0/1:19,31:50:99:774,0,354	18	0	1	0
chr7	29883988	29883988	C	T	exonic	WIPF3	.	nonsynonymous SNV	WIPF3:NM_001080529:exon5:c.C494T:p.A165V	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00478733225877	.	0.000399361	0.0014	0	0	0	0.0046	0.0019	0	0.0012	0.0005239	81	154602	rs200642657	0.0021	0.0021	0.0021	0.0021	0.0041	0.0021	0.0020	0.0028	0.0023	0.0005	0.0006	0.0003	5.659e-05	0.0043	0.0041	0.0023	0.0019	0.0008	0.0015	0.0015	0.0016	0.0014	0.0024	0.0013	0.0013	0.0021	0.0020	0.0004	0	0.0006	0.0003	0	0.0031	0	0.0024	0.0024	0.0004	0.732	0.03787	T	0.72	0.05345	T	0.0	0.02946	B	0.0	0.01387	B	0.073366	0.02276	N	2.149330	1	0.08975	N	-1.1	0.00987	N	0.94	0.43672	T	0.48	0.03041	N	0.042	0.04188	-1.0575	0.12388	T	0.026	0.11264	T	10	0.0038670003	0.00073	T	0.004787	0.11973	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.161051366702184	0.16026	0.0783901697628	0.08821	0.728453814983	0.71280	T	0.107739	0.42019	T	-0.704032	0.00035	T	-0.789927	0.02167	T	0.00469225642076224	0.00050	T	0.471053	0.13966	T	0.029971905	0.02580	0.04249815	0.05076	0.029971905	0.02579	0.04249815	0.05076	-3.841	0.21418	T	.	.	0.055	0.00412	B	.;.;.	.;.;.	-0.110536	0.03581	0.695	0.85226520618244095	0.15762	0.00315	0.01661	N	AEFDBCI	0.018868	0.00607	N	-1.83850202869672	0.00458	0.01968982	-1.80606501829346	0.00740	0.03297694	0.999992575693569	0.74766	0.443343	0.08805	1	0.657636	0.61667	0	0.666236	0.60216	0	0.542086	0.14980	0	.	.	4.45	-3.99	0.03798	-1.097000	0.03460	-0.754000	0.07565	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1547:0.3996:0.1586:0.2872	2.037	0.03327	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006821	0.000000	0.007205	0.000000	0.000000	0.009091	0.022293	0.000000	0.02632	243.34	28	chr7	29883988	.	C	T	243.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.597;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-0.638;SOR=0.85	GT:AD:DP:GQ:PL	0/1:21,12:33:99:257,0,501	18	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	625.69	40	chr7	30446188	.	C	G	625.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.478;DP=1332;ExcessHet=0.3672;FS=244.78;InbreedingCoeff=-0.0996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=2.27;SOR=10.163	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	16	0	3	0
chr7	30452750	30452750	G	A	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon6:c.C667T:p.R223W,NOD1:NM_006092:exon6:c.C667T:p.R223W	.	418	1103	1	0	0	1	0.000453104	.	.	.	2246175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0241533257917	0.0008	0.000399361	0.0002	0.0014	0	0.0003	0	3.003e-05	0	0	0.0001617	25	154602	rs149728096	7.662e-05	7.661e-05	8.169e-05	7.151e-05	0.0019	6.491e-05	6.071e-05	0.0015	0.0014	0.0019	8.944e-05	0	0.0001	1.879e-05	0.0007	2.068e-05	0.0002	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0	0	0.0004	0.0003	0	1.47e-05	0.0005	0	0.02	0.49613	D	0.001	0.83351	D	0.995	0.67487	D	0.625	0.51564	P	0.067959	0.21706	N	0.516121	0.999596	0.47742	D	1.65	0.42232	L	1.98	0.21865	T	-3.2	0.64710	D	0.285	0.32259	-1.1122	0.02887	T	0.063	0.26208	T	10	0.09450865	0.16810	T	0.024153	0.47134	T	0.100	0.28662	.	.	0.700317373113	0.69772	0.5565608058787335	0.55583	0.578397025268	0.53743	0.226193457842	0.01698	T	0.458198	0.79627	T	-0.537957	0.00345	T	-0.551682	0.17165	T	0.0807751470064164	0.10086	T	0.70423	0.31438	T	0.12999429	0.30344	0.119958505	0.28951	0.12999429	0.30344	0.119958505	0.28950	-8.418	0.63884	D	.	.	0.096	0.15475	B	.	.	3.501635	0.48989	22.7	0.99643165505060638	0.76819	0.74968	0.36687	D	AEFDGBCI	.	.	.	-0.110092362858492	0.36953	2.143043	-0.235953134605368	0.30259	1.702135	0.824454303929287	0.24582	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.49	2.54	0.29674	2.635000	0.46203	5.162000	0.47795	-0.103000	0.15852	0.976000	0.34826	1.000000	0.68203	0.008000	0.08271	0.0879:0.2478:0.5555:0.1089	5.461	0.15915	840	0.37365	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1862.33	151	chr7	30452750	.	G	A	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=1682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.5;SOR=0.72	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr7	30594967	30594969	CTG	-	exonic	GARS1	.	nonframeshift deletion	GARS1:NM_002047:exon1:c.46_48del:p.L20del	.	6	1491	25	0	0	25	0.00831393	.	.	.	395622	not_provided|not_specified|GARS1-related_disorder|Charcot-Marie-Tooth_disease_type_2	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0617	.	0.0248	0.0318	0.0308	0.0277	0.0185	0.0263	0.0315	0.0138	0.0001921	5	26028	rs1060504732	0.0002	0.0036	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0007	0.0004	0.0001	0.0007	0.0004	0.0001	0.0002	0.0005	0	5.256e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091327	0.043011	0.106267	0.058824	0.050000	0.103448	0.080745	0.122137	0.02632	31.3	31	chr7	30594966	.	TCTG	T	31.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.98;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-0.484;SOR=0.752	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	18	0	1	0
chr7	30609652	30609652	C	T	exonic	GARS1	.	nonsynonymous SNV	GARS1:NM_001316772:exon7:c.C641T:p.T214I,GARS1:NM_002047:exon7:c.C803T:p.T268I	.	0	1506	14	2	0	18	0.00594059	.	.	.	186076	not_provided|Distal_spinal_muscular_atrophy|not_specified|Charcot-Marie-Tooth_disease_type_2D|Charcot-Marie-Tooth_disease|GARS1-related_disorder|Neuronopathy,_distal_hereditary_motor,_type_5A|Charcot-Marie-Tooth_disease_type_2	MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MedGen:CN169374|MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|.|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.654	0.193580715213	0.0048	0.00119808	0.0032	0.0009	0.0015	0	0.0041	0.0047	0.0056	0.0005	0.0030595	473	154602	rs2230310	0.0040	0.0040	0.0039	0.0040	0.0078	0.0039	0.0039	0.0060	0.0054	0.0006	0.0019	0.0072	0	0.0044	0.0078	0.0044	0.0046	0.0006	0.0035	0.0035	0.0039	0.0031	0.0055	0.0033	0.0032	0.0050	0.0048	0.0008	0.0022	0.0037	0.0049	0.0002	0.0036	0.0034	0.0055	0.0085	0	0.007	0.59928	D	0.001	0.83351	D	0.656	0.40834	P	0.284	0.40463	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.28	0.79376	T	-5.13	0.83224	D	0.477	0.51226	0.049	0.83226	D	0.429	0.77166	T	10	0.011372536	0.00249	T	0.193581	0.86312	D	0.654	0.86986	.	.	0.656850147153	0.65398	0.6488353436794381	0.64819	0.992276791198	0.74123	0.724661707878	0.70727	T	0.710319	0.91732	D	-0.216677	0.18448	T	-0.0795922	0.64933	T	0.105837824231152	0.12987	T	0.877812	0.59215	D	0.48011655	0.65907	0.28370938	0.54365	0.53098977	0.68888	0.27154577	0.53055	-13.091	0.89734	D	0.8195023017342251	0.89277	0.835	0.78969	P	.	.	4.249182	0.64489	24.7	0.99915499416756404	0.98379	0.96449	0.69194	D	AEFBI	0.690319	0.65069	D	0.578111021577354	0.71811	5.707834	0.624917481050053	0.76756	6.549694	0.999999999462062	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	4.86	0.62624	6.036000	0.70590	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9196:0.0:0.0804	13.460	0.60673	723	0.55174	Aminoacyl-tRNA synthetase, class II|Glycyl-tRNA synthetase-like core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.006793	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1176.33	33	chr7	30609652	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.19;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	0	1	0
chr7	30753866	30753866	G	A	exonic	INMT	.	stopgain	INMT:NM_001199219:exon2:c.G287A:p.W96X,INMT:NM_006774:exon2:c.G290A:p.W97X	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.472e-05	9.623e-05	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs764793986	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0002	1.738e-05	1.539e-05	1.998e-05	1.74e-05	0	2.236e-05	0	0	0	0.0002	2.788e-05	3.311e-05	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	6.535e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	6.535e-05	0	0	0	0.0034	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.026207	0.25958	N	0.264539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.685	0.69213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.364779	0.98828	41	0.99613182821204127	0.74932	0.96158	0.67799	D	AEFBI	0.379737	0.46264	N	0.698948791166025	0.79563	7.104218	0.492420027529447	0.67486	5.09057	0.999999999756771	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	3.69	3.69	0.41483	7.724000	0.83759	8.181000	0.76777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	13.316	0.59847	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1686.33	34	chr7	30753866	.	G	A	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=772;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.029;SOR=1.01	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	18	0	1	0
chr7	30836700	30836700	C	T	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon7:c.C1175T:p.S392L	.	431	1074	16	1	0	18	0.00831025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0042	0.00259585	0.0041	0.0007	0.0033	0	0.0003	0.0043	0.0033	0.0100	0.0040944	633	154602	rs187366942	0.0051	0.0051	0.0049	0.0052	0.0090	0.0050	0.0049	0.0085	0.0082	0.0009	0.0020	0.0051	0	0.0008	0.0036	0.0054	0.0047	0.0090	0.0031	0.0031	0.0031	0.0032	0.0098	0.0029	0.0028	0.0075	0.0068	0.0009	0	0.0022	0.0049	0	0.0004	0.0068	0.0048	0.0043	0.0098	0.122	0.27663	T	0.286	0.21277	T	0.491	0.36960	P	0.028	0.21332	B	0.081677	0.02360	N	1.749720	1	0.08975	N	.	.	.	2.84	0.10674	T	-1.05	0.27463	N	0.1	0.08227	-0.9963	0.30946	T	0.018	0.07234	T	10	0.004898697	0.00105	T	.	.	.	0.031	0.07369	.	.	0.0846915920261	0.08053	0.16614138891844307	0.16534	0.0412125781724	0.04422	0.297259032726	0.09993	T	0.009933	0.09012	T	-0.684331	0.00045	T	-0.749089	0.03522	T	0.00169016923033653	0.00017	T	0.460354	0.13329	T	0.0415969	0.06155	0.034313027	0.02475	0.0415969	0.06155	0.034313027	0.02475	-4.412	0.29719	T	.	.	0.079	0.07365	B	.	.	0.641945	0.10104	6.850	0.93641887841551796	0.23522	0.02309	0.06629	N	AEFDBI	0.046229	0.07652	N	-1.00619972359629	0.08474	0.3974801	-1.09882773476679	0.07723	0.3768303	0.0177513363852835	0.12986	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.67	0.597	0.16685	0.033000	0.13642	-0.357000	0.09702	-0.885000	0.02425	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5152:0.3044:0.1804	5.714	0.17221	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.008621	0.021341	0.011364	0.02632	558.33	33	chr7	30836700	.	C	T	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=714;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=-0.01;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	18	0	1	0
chr7	31643151	31643151	A	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon10:c.A1781G:p.N594S,ITPRID1:NM_001257968:exon11:c.A1781G:p.N594S,ITPRID1:NM_001257967:exon12:c.A1781G:p.N594S	.	.	.	.	.	.	.	.	.	.	.	4154992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00268836994654	7.7e-05	.	6.59e-05	0	0.0006	0	0	1.498e-05	0	0	5.17e-05	8	154602	rs368084998	2.6e-05	2.599e-05	3.403e-05	1.788e-05	0.0005	1.933e-05	1.692e-05	0.0003	0.0003	2.987e-05	0.0005	0	0	1.873e-05	0	1.079e-05	3.313e-05	1.159e-05	0.0001	0.0001	5.14e-05	0.0002	0.0014	9.15e-05	7.705e-05	0.0009	0.0008	0	0	0.0014	0	0	0	0	0	0	0	0.452	0.08969	T	0.401	0.14961	T	0.0	0.07471	B	0.003	0.08700	B	0.003632	0.00975	N	2.452570	1	0.08975	N	.	.	.	2.35	0.16217	T	0.15	0.05310	N	0.034	0.01274	-1.0061	0.28126	T	0.017	0.07187	T	10	0.018877655	0.00415	T	0.002688	0.05521	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.038558621076573756	0.03801	0.0258709643059	0.02640	0.218459412456	0.01223	T	3.71E-4	0.00113	T	-0.685584	0.00044	T	-0.868537	0.00756	T	0.0304352692285355	0.02057	T	0.134287	0.01062	T	0.016840713	0.00226	0.025439102	0.00589	0.016840713	0.00226	0.025439102	0.00588	-1.49	0.01913	T	.	.	0.079	0.12181	B	.;.;.;.;.	.;.;.;.;.	-1.814004	0.00152	0.002	0.37691537501018041	0.02498	0.00207	0.01180	N	AEFDGBI	0.033527	0.03996	N	-1.72796943978737	0.00747	0.03226293	-1.74837468031292	0.00939	0.04204566	0.998913010288246	0.37962	0.554377	0.28877	0	0.586423	0.34054	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.71	-6.47	0.01731	-1.159000	0.03261	-1.076000	0.06405	-3.724000	0.00064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6339:0.0:0.141:0.2251	7.634	0.27424	803	0.44167	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1817.33	145	chr7	31643151	.	A	G	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.367;DP=2698;ExcessHet=0;FS=4.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.224;SOR=0.885	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr7	31643818	31643818	C	A	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon10:c.C2448A:p.H816Q,ITPRID1:NM_001257968:exon11:c.C2448A:p.H816Q,ITPRID1:NM_001257967:exon12:c.C2448A:p.H816Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00565192064086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.494	0.12386	T	0.146	0.32258	B	0.041	0.26820	B	0.141758	0.02892	N	1.669150	1	0.08975	N	.	.	.	1.6	0.28604	T	-1.28	0.34397	N	0.089	0.06720	-1.0858	0.06263	T	0.052	0.21960	T	10	0.053285778	0.05495	T	0.005652	0.14621	T	0.045	0.12272	0.119	0.02647	0.159798565429	0.15598	0.06324124486515995	0.06263	0.0345443991487	0.03633	0.24051502347	0.02837	T	0.002085	0.01490	T	-0.336547	0.05630	T	-0.721203	0.04738	T	0.0812369006847954	0.10144	T	0.467153	0.13745	T	0.034104895	0.03761	0.03804614	0.03587	0.034104895	0.03761	0.03804614	0.03587	-3.909	0.23248	T	.	.	0.139	0.30920	B	.;.;.;.;.	.;.;.;.;.	-0.900315	0.00925	0.035	0.48226010630103255	0.04007	0.04723	0.10418	N	AEFBI	0.076952	0.15493	N	-1.20169911695418	0.04975	0.2257574	-1.26694844551273	0.04885	0.2315049	0.00291588563588505	0.09795	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.69	-1.24	0.08948	-0.401000	0.07293	-3.091000	0.03069	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2702:0.3367:0.132:0.2611	0.509	0.00553	811	0.42639	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1640.33	77	chr7	31643818	.	C	A	1640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.32;DP=1209;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.352;SOR=0.748	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr7	34051930	34051930	C	T	exonic	BMPER	.	nonsynonymous SNV	BMPER:NM_001365308:exon8:c.C746T:p.S249F,BMPER:NM_133468:exon9:c.C746T:p.S249F	Diaphanospondylodysostosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.043959928567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.357	0.33788	B	0.241	0.38645	B	0.000040	0.55875	D	0.164884	0.999999	0.58761	D	2.35	0.67516	M	-0.26	0.67187	T	-2.97	0.61865	D	0.272	0.30800	-0.3490	0.73583	T	0.341	0.70721	T	10	0.5001063	0.61497	D	0.04396	0.61247	D	0.264	0.57741	0.551	0.66716	0.891819750827	0.89075	0.6755983025602584	0.67497	0.353429344433	0.37145	0.572640776634	0.49051	T	0.384357	0.74600	T	0.00554323	0.52417	T	-0.229814	0.51790	T	0.978092789649963	0.72158	D	0.909609	0.68017	D	0.35373107	0.57356	0.2850712	0.54508	0.35373107	0.57356	0.2850712	0.54507	-9.169	0.68778	D	0.32017927278143743	0.41831	0.193	0.47784	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.698606	0.52737	23.3	0.99686491598656812	0.79641	0.96842	0.71235	D	AEFGBI	0.679334	0.64340	D	0.270846024081592	0.54676	3.632732	0.323699421388438	0.56937	3.857819	0.999999999999933	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.12	5.12	0.69459	5.148000	0.64701	6.021000	0.52793	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.785000	0.37106	0.0:1.0:0.0:0.0	18.956	0.92632	850	0.35610	VWFC domain;.;VWFC domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	841.33	33	chr7	34051930	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.259;DP=759;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-1.207;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	18	0	1	0
chr7	35638413	35638413	G	A	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon6:c.C554T:p.A185V	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00830089784445	0.0003	0.000599042	0.0009	0.0002	0.0007	0	0	0.0004	0.0011	0.0045	0.0007762	120	154602	rs143548194	0.0005	0.0005	0.0004	0.0007	0.0147	0.0005	0.0005	0.0122	0.0113	0.0001	0.0005	0.0002	0	0	0.0147	0.0002	0.0010	0.0042	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.406e-05	0	0.0002	0.0006	0	0	0.0136	0.0003	0.0005	0.0039	0.098	0.39334	T	0.589	0.11078	T	0.024	0.19075	B	0.014	0.16862	B	0.009620	0.30282	N	0.391146	0.590511	0.32452	D	1.545	0.39105	L	2.78	0.30669	T	-1.2	0.30762	N	0.137	0.13484	-1.0500	0.14397	T	0.051	0.21572	T	10	0.007558018	0.00172	T	0.008301	0.21979	T	0.048	0.13305	.	.	0.375384844437	0.37152	0.3521035654502703	0.35124	0.286700371962	0.31060	0.491807460785	0.37690	T	0.002	0.01317	T	-0.470251	0.00847	T	-0.44854	0.27859	T	0.0213379543456771	0.00837	T	0.844016	0.66491	T	0.06061559	0.12459	0.066769175	0.13724	0.06061559	0.12458	0.066769175	0.13724	-3.477	0.16111	T	.	.	0.088	0.18746	B	.;.;.;.	.;.;.;.	1.776554	0.22588	15.68	0.93043355323146437	0.22648	0.87186	0.46650	D	AEFBI	0.112113	0.22172	N	-0.568905067551693	0.19894	1.044783	-0.487702264382553	0.22491	1.221877	0.169259988860167	0.17711	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.04	4.15	0.47978	3.054000	0.49600	7.572000	0.60737	0.676000	0.76740	0.275000	0.25094	1.000000	0.68203	0.031000	0.13245	0.0:0.1371:0.8629:0.0	15.752	0.77765	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.001359	0.008772	0.000000	0.025862	0.003067	0.007576	0.02632	915.33	33	chr7	35638413	.	G	A	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=694;ExcessHet=0;FS=8.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=2.15;SOR=1.158	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	18	0	1	0
chr7	35670301	35670301	C	T	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon4:c.G253A:p.V85I	.	.	.	.	.	.	.	.	.	.	.	3685617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.027791912928	.	.	4.962e-05	0	0	0	0	7.517e-05	0	6.083e-05	3.88e-05	6	154602	rs200034926	4.348e-05	4.379e-05	3.264e-05	5.443e-05	0.0032	3.449e-05	3.127e-05	0.0021	0.0017	0	0	0.0006	0	0	0.0032	1.77e-05	3.454e-05	7.669e-05	6.742e-05	6.585e-05	2.621e-05	0.0001	0.0002	3.603e-05	2.779e-05	2.87e-05	1.875e-05	0	0	0	0.0009	0	0	0	7.432e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.847	0.60522	P	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.415	0.91848	M	0.71	0.51228	T	-0.88	0.23808	N	0.593	0.61256	-0.3971	0.72119	T	0.292	0.66345	T	10	0.29030365	0.46611	T	0.027792	0.50556	D	0.266	0.57999	0.529	0.63560	0.533107066423	0.52960	0.3903813813631027	0.38953	0.8332888416	0.67718	0.55125772953	0.46035	T	0.095948	0.39724	T	-0.118428	0.33381	T	-0.213581	0.53351	T	0.866503715515137	0.51656	D	0.957504	0.83996	D	0.48549652	0.66233	0.3986034	0.64445	0.48549652	0.66233	0.3986034	0.64445	-9.748	0.72389	D	.	.	0.462	0.62816	A	.;.;.	.;.;.	5.307126	0.89095	29.9	0.99795493169791505	0.88106	0.96274	0.68342	D	AEFGBI	0.506656	0.53729	D	0.541710682719764	0.69579	5.377014	0.46765619445246	0.65859	4.877239	0.970643288197046	0.29223	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.66	3.84	0.43422	5.406000	0.66100	7.627000	0.62562	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2596:0.7404:0.0:0.0	15.057	0.71588	752	0.51611	Ubiquitin domain|Ubiquitin domain;Ubiquitin domain|Ubiquitin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.05263	2353.81	37	chr7	35670301	.	C	T	2353.81	.	AC=2;AF=0.053;AN=38;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.38;SOR=1.022	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	18	1	0	0
chr7	36410543	36410543	C	T	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon6:c.C1126T:p.R376C,ANLN:NM_001284302:exon6:c.C1126T:p.R376C,ANLN:NM_018685:exon6:c.C1126T:p.R376C	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1374769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0992694394746	.	0.000199681	7.491e-05	0	0	0	0	1.513e-05	0	0.0005	6.47e-05	10	154602	rs559978701	3.977e-05	3.967e-05	2.32e-05	5.651e-05	0.0005	3.12e-05	2.853e-05	0.0004	0.0003	3e-05	2.28e-05	0	2.523e-05	0	0	9.905e-06	3.32e-05	0.0005	3.285e-05	3.281e-05	0	6.715e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0006	0.001	0.91255	D	0.014	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.095114	1	0.81001	D	2.545	0.74286	M	2.21	0.19990	T	-4.0	0.75139	D	0.516	0.54671	-0.9388	0.42806	T	0.133	0.44642	T	10	0.14448911	0.27420	T	0.099269	0.77079	D	0.172	0.43662	0.266	0.21261	0.637469505071	0.63448	0.5334594273513621	0.53270	0.687227062568	0.60371	0.556408643723	0.46760	T	0.376331	0.73975	T	-0.292236	0.09413	T	-0.305835	0.44104	T	0.816710293292999	0.47529	D	0.979602	0.93000	D	0.4647072	0.64964	0.35285512	0.60856	0.48249957	0.66052	0.34610927	0.60283	-13.121	0.90792	D	0.3195570575660832	0.41767	0.431	0.65920	A	.;.	.;.	5.108625	0.85399	28.6	0.99911053915977965	0.98022	0.97002	0.72125	D	AEFBI	0.537524	0.55529	D	0.429595695221995	0.63057	4.532237	0.384719815681844	0.60621	4.25188	0.999982547349855	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.63	3.85	0.43556	4.658000	0.61192	5.861000	0.50433	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.8629:0.0:0.1371	12.301	0.54197	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1246.33	33	chr7	36410543	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=721;ExcessHet=0;FS=1.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.183;SOR=0.507	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr7	36540333	36540333	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon15:c.G1196A:p.R399K,AOAH:NM_001177506:exon16:c.G1292A:p.R431K,AOAH:NM_001637:exon16:c.G1292A:p.R431K	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00446102551302	0.0012	0.000998403	0.0011	0.0006	0.0005	0.0002	0.0002	0.0017	0.0023	0.0003	0.0010608	164	154602	rs140099559	0.0011	0.0011	0.0010	0.0011	0.0082	0.0010	0.0010	0.0063	0.0056	0.0006	0.0008	0	2.52e-05	0.0004	0.0082	0.0012	0.0015	0.0003	0.0010	0.0010	0.0012	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0012	0	0	9.43e-05	0.0034	0.0017	0.0019	0.0004	.	.	.	0.108	0.41405	T	0.046	0.21875	B	0.04	0.23831	B	0.000433	0.44522	N	0.153563	0.558999	0.32197	D	.	.	.	.	.	.	.	.	.	0.454	0.53620	-0.9813	0.34701	T	0.043	0.18451	T	9	0.022449523	0.00561	T	0.004461	0.10937	T	.	.	.	.	0.311387274539	0.30754	0.6546200457291987	0.65398	.	.	0.424298048019	0.28428	T	0.128553	0.45627	T	-0.317711	0.07087	T	-0.235314	0.51255	T	0.0780849456787109	0.09740	T	0.690331	0.29972	T	0.37246248	0.58767	0.17977946	0.40734	0.37246248	0.58767	0.17977946	0.40733	-8.78	0.66596	D	.	.	0.119	0.31279	B	.;.;.	.;.;.	2.231878	0.28490	17.81	0.97571353874165978	0.34681	0.75740	0.37099	D	AEFBI	0.328338	0.42903	N	0.077221669611972	0.45402	2.797306	0.208472086984411	0.50318	3.225032	0.659555504356492	0.22255	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.98	5.1	0.68917	2.302000	0.43298	0.538000	0.19308	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.0:0.9218:0.0:0.0782	12.484	0.55203	940	0.13648	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007064	0.000000	0.006793	0.023392	0.050000	0.000000	0.000000	0.003817	0.02632	871.33	35	chr7	36540333	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.104;DP=695;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.521;SOR=0.532	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1419	18	0	1	0
chr7	36548649	36548649	C	T	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon14:c.G1000A:p.V334I,AOAH:NM_001177506:exon15:c.G1096A:p.V366I,AOAH:NM_001637:exon15:c.G1096A:p.V366I	.	412	1083	27	0	0	27	0.0123119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0055	0.00499201	0.0026	0.0139	0.0010	0	0.0003	0.0006	0.0055	0.0064	0.0023286	360	154602	rs78005813	0.0011	0.0012	0.0010	0.0013	0.0155	0.0011	0.0011	0.0144	0.0140	0.0155	0.0011	0.0002	2.52e-05	0.0007	0.0064	0.0003	0.0019	0.0065	0.0049	0.0049	0.0051	0.0047	0.0150	0.0046	0.0045	0.0140	0.0136	0.0150	0	0.0027	0.0003	0	0.0006	0.0034	0.0005	0.0028	0.0064	.	.	.	0.214	0.31730	T	0.992	0.64738	D	0.542	0.48916	P	0.000143	0.49130	N	0.085017	0.745789	0.34899	D	.	.	.	.	.	.	.	.	.	0.441	0.47949	-0.7821	0.56184	T	0.086	0.33354	T	9	0.009813219	0.00220	T	.	.	.	.	.	.	.	0.646205260438	0.64327	0.3272704655681035	0.32640	.	.	0.474855154753	0.35350	T	0.068564	0.33489	T	-0.356989	0.04303	T	-0.272593	0.47556	T	0.0172766023879801	0.00468	T	0.721828	0.33531	T	0.08220265	0.18926	0.07781894	0.17372	0.08220265	0.18926	0.07781894	0.17371	-6.686	0.53403	T	.	.	0.081	0.11701	B	.;.;.	.;.;.	3.229203	0.44031	21.9	0.99837696417451993	0.91886	0.79780	0.39601	D	AEFBI	0.255849	0.37489	N	0.413658013603237	0.62173	4.428928	0.409116299472035	0.62132	4.423605	0.700943074729787	0.22699	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.06	5.18	0.71140	2.349000	0.43710	1.672000	0.27961	-0.176000	0.10722	0.975000	0.34726	0.906000	0.28050	0.081000	0.17303	0.0:0.9232:0.0:0.0768	12.754	0.56697	939	0.14249	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1700.33	33	chr7	36548649	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=808;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.465;SOR=0.688	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.02632	2624.33	137	chr7	36618320	.	G	A	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.322;DP=761;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-0.055;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	18	0	1	0
chr7	37096657	37096657	G	A	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001206480:exon15:c.C1262T:p.T421I,ELMO1:NM_001206482:exon15:c.C1262T:p.T421I,ELMO1:NM_014800:exon15:c.C1262T:p.T421I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.0500175576138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.995	0.67487	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.35	0.58029	T	-3.07	0.63207	D	0.966	0.97643	-0.2523	0.76297	T	0.363	0.72407	T	10	0.95647556	0.95013	D	0.050018	0.64061	D	0.594	0.83857	0.858	0.95662	0.861314050654	0.85997	0.879973935838492	0.87965	1.91311269366	0.92925	0.924149334431	0.98622	D	0.552149	0.84855	D	0.32092	0.84538	D	0.223203	0.84336	D	0.974983751773834	0.70738	D	0.987726	0.95813	D	0.76238734	0.81594	0.5543455	0.74226	0.76238734	0.81596	0.5543455	0.74226	-7.747	0.59334	D	.	.	0.973	0.89905	P	.;.;.	.;.;.	5.330489	0.89453	30	0.99918740689281882	0.98586	0.95997	0.67068	D	AEFGBHCI	0.874031	0.79670	D	0.87587735203708	0.90527	10.44525	0.836904163290546	0.92227	11.30715	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.96	4.96	0.65153	10.003000	0.99689	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.614	0.91252	853	0.34956	ELMO domain|ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	35	chr7	37096657	.	G	A	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=751;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.395;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr7	38391869	38391869	G	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_139316:exon18:c.C1631T:p.T544M,AMPH:NM_001635:exon19:c.C1757T:p.T586M	.	430	1091	1	0	0	1	0.000458085	.	.	.	722500	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0274119335809	0.0022	0.000998403	0.0019	0.0005	0.0017	0	0.0003	0.0027	0.0011	0.0012	0.0020116	311	154602	rs142938499	0.0029	0.0029	0.0030	0.0029	0.0034	0.0029	0.0028	0.0034	0.0033	0.0007	0.0021	0.0036	0.0003	0.0002	0.0007	0.0034	0.0024	0.0009	0.0018	0.0018	0.0019	0.0017	0.0027	0.0016	0.0015	0.0024	0.0022	0.0008	0	0.0016	0.0061	0	0.0002	0	0.0027	0.0009	0.0012	0.133	0.26965	T	0.095	0.54934	T	0.007	0.16265	B	0.006	0.12133	B	0.338600	0.04174	N	1.449630	1	0.08975	N	0.49	0.13296	N	0.1	0.61326	T	-1.28	0.33798	N	0.077	0.05162	-1.0199	0.23747	T	0.102	0.37718	T	10	0.006348312	0.00143	T	0.027412	0.50222	D	0.031	0.07369	.	.	0.663861624897	0.66103	0.2104287327896841	0.20958	0.198447039188	0.22225	0.309890270233	0.11891	T	0.154699	0.49610	T	-0.540574	0.00332	T	-0.552324	0.17103	T	0.00484395711718842	0.00052	T	0.462454	0.13421	T	0.015107383	0.00122	0.03897273	0.03885	0.015107383	0.00122	0.03897273	0.03885	-5.655	0.43291	T	.	.	0.082	0.08512	B	.;.	.;.	1.056249	0.14379	10.95	0.96287900388240644	0.29305	0.04035	0.09473	N	AEFDBI	0.089950	0.18230	N	-0.969620451101046	0.09257	0.4373864	-0.984189544291016	0.10140	0.5088352	0.00530488534102459	0.10895	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	0.271	0.14894	-0.623000	0.05643	0.082000	0.14403	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2698:0.2601:0.3249:0.1452	1.453	0.02236	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1027.33	59	chr7	38391869	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=883;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.04;SOR=0.35	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr7	38767538	38767538	G	C	exonic	VPS41	.	nonsynonymous SNV	VPS41:NM_080631:exon14:c.C1171G:p.R391G,VPS41:NM_014396:exon15:c.C1246G:p.R416G	.	.	.	.	.	.	.	.	0.0125	0.18	.	3892510	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.0251284421074	.	.	9.176e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139485137	5.399e-05	5.405e-05	6.341e-05	4.448e-05	0.0002	4.395e-05	4.065e-05	9.027e-05	6.547e-05	0	0.0002	0	0	0	0.0002	5.999e-05	5.025e-05	0	3.29e-05	3.285e-05	3.857e-05	2.696e-05	6.553e-05	1.262e-05	7.99e-06	1.972e-05	1.125e-05	0	0	6.553e-05	0	0	0	0	5.882e-05	0	0	0.023	0.48186	D	0.3	0.20811	T	0.919	0.50927	P	0.34	0.42389	B	0.000000	0.84330	D	0.046740	0.999885	0.50402	D	1.825	0.47900	L	2.22	0.18248	T	-3.64	0.69835	D	0.898	0.89800	-1.1019	0.03869	T	0.041	0.17742	T	10	0.7310193	0.74298	D	0.025128	0.48109	D	0.304	0.62510	0.573	0.69695	0.324986149311	0.32103	0.6554220294632384	0.65478	0.936948820389	0.72059	0.535926818848	0.43871	T	0.200516	0.55812	T	-0.0156158	0.49476	T	0.00909235	0.70923	D	0.196783663996057	0.20236	T	0.962554	0.86020	D	0.50695014	0.67502	0.31838992	0.57807	0.50695014	0.67503	0.31838992	0.57807	-9.738	0.72328	D	.	.	0.474	0.63390	A	.;.	.;.	3.416568	0.47423	22.5	0.99614562665154605	0.75052	0.94076	0.60040	D	AEFBI	0.405565	0.47840	N	0.164677435607053	0.49509	3.150479	0.199427012486135	0.49814	3.180385	0.0660390368664016	0.15380	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.64	4.75	0.59954	2.279000	0.43094	8.544000	0.77503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:0.6125:0.3875	13.971	0.63752	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	33	chr7	38767538	.	G	C	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=724;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.572;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1246	18	0	1	0
chr7	38869159	38869159	G	C	exonic	VPS41	.	nonsynonymous SNV	VPS41:NM_014396:exon3:c.C155G:p.T52R,VPS41:NM_080631:exon3:c.C155G:p.T52R	.	426	1091	5	0	0	5	0.00228624	.	.	.	2828391	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.452	0.0317242515211	0.0038	0.00179712	0.0030	0.0012	0.0017	0	0.0009	0.0042	0.0056	0.0022	0.0030465	471	154602	rs147210031	0.0045	0.0045	0.0045	0.0044	0.0053	0.0044	0.0044	0.0052	0.0051	0.0005	0.0018	0.0044	0	0.0010	0.0021	0.0053	0.0038	0.0018	0.0030	0.0030	0.0035	0.0025	0.0052	0.0028	0.0027	0.0048	0.0046	0.0008	0	0.0016	0.0040	0.0002	0.0017	0.0034	0.0052	0.0038	0.0017	0.003	0.72154	D	0.01	0.65728	D	0.987	0.61912	D	0.737	0.55577	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.81	0.47622	L	0.75	0.50192	T	-1.63	0.44094	N	0.946	0.95374	-0.8947	0.48512	T	0.169	0.50874	T	10	0.012589067	0.00270	T	0.031724	0.53738	D	0.452	0.75211	.	.	0.743075302769	0.74076	0.7535532918239468	0.75302	0.857118889408	0.68787	0.781746566296	0.79190	T	0.051127	0.28791	T	-0.0482478	0.44713	T	0.161924	0.80925	D	0.0281793895389097	0.01715	T	0.940606	0.79230	D	0.47741503	0.65743	0.5021299	0.71219	0.47741503	0.65744	0.5021299	0.71220	-11.781	0.84032	D	.	.	0.293	0.73351	B	.;.;.;.;.	.;.;.;.;.	4.611936	0.73149	25.9	0.99264953807408485	0.57356	0.99365	0.95074	D	AEFBI	0.917690	0.88568	D	0.76036404241696	0.83578	8.054329	0.801766886451582	0.89914	10.17608	0.999999999576504	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	9.602000	0.97623	6.620000	0.56116	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.177	0.98183	716	0.55970	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1162.33	33	chr7	38869159	.	G	C	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.924;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.487;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr7	39339688	39339688	-	CAGCAG	exonic	POU6F2	.	nonframeshift insertion	POU6F2:NM_001370959:exon5:c.645_646insCAGCAG:p.Q225_P226insQQ,POU6F2:NM_001166018:exon6:c.558_559insCAGCAG:p.Q196_P197insQQ,POU6F2:NM_007252:exon6:c.558_559insCAGCAG:p.Q196_P197insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0.0042	0	0	2.07e-05	0.0017	0.0056	3.84e-05	1	26028	rs758469863	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0038	0.0037	3.001e-05	0.0033	0	5.063e-05	2.197e-05	0.0002	4.154e-05	0.0004	0.0042	0.0003	0.0003	9.039e-05	0.0004	0.0042	0.0002	0.0002	0.0028	0.0023	0	0	0.0011	0	0	0	0	2.952e-05	0	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3541.77	33	chr7	39339688	.	C	CCAGCAG	3541.77	.	AC=2;AF=0.053;AN=38;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.26;SOR=1.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	1	0	0
chr7	40316838	40316838	A	G	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon8:c.A655G:p.S219G,SUGCT:NM_001193311:exon9:c.A799G:p.S267G,SUGCT:NM_001193313:exon9:c.A799G:p.S267G,SUGCT:NM_024728:exon9:c.A688G:p.S230G	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3611908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0427565895089	.	0.000199681	0.0001	0	0	0	0	3.994e-05	0	0.0004	3.88e-05	6	154602	rs569109110	7.307e-05	7.388e-05	5.935e-05	8.702e-05	0.0005	6.152e-05	5.692e-05	0.0004	0.0003	0	2.385e-05	0	0	0	0.0003	5.282e-05	3.362e-05	0.0005	5.257e-05	5.25e-05	7.713e-05	2.688e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	4.816e-05	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.993939	0.42103	D	2.515	0.73286	M	0.59	0.53943	T	-3.75	0.72240	D	0.692	0.69737	-0.5158	0.68073	T	0.282	0.65350	T	10	0.38022068	0.54137	T	0.042757	0.60630	D	0.458	0.75619	0.509	0.60540	0.438170831126	0.43439	0.566317666422194	0.56559	.	.	.	.	.	0.167	0.51290	T	-0.123153	0.32609	T	-0.0826134	0.64713	T	0.815363168716431	0.47432	D	0.950005	0.95194	D	0.88896114	0.90418	0.8026109	0.88434	0.88896114	0.90419	0.8026109	0.88435	-10.189	0.84108	D	.	.	0.252	0.58102	B	.;.;.	.;.;.	4.983266	0.82561	27.8	0.99785918258356499	0.87219	0.95208	0.63838	D	AEFBI	0.818466	0.73971	D	0.686644238495972	0.78757	6.936424	0.686496701145742	0.81351	7.506764	0.997678602582429	0.35891	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.59	5.59	0.84677	5.903000	0.69616	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.802	0.62695	787	0.46738	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1412.33	57	chr7	40316838	.	A	G	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.531;DP=1099;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.678;SOR=0.821	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,99,1725	18	0	1	0
chr7	40459197	40459197	C	T	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon10:c.C841T:p.R281W,SUGCT:NM_001193311:exon11:c.C985T:p.R329W,SUGCT:NM_001193313:exon11:c.C985T:p.R329W,SUGCT:NM_024728:exon11:c.C874T:p.R292W	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	0.0003	0.032	YES	16888	not_provided|Glutaryl-CoA_oxidase_deficiency|SUGCT-related_disorder	MedGen:C3661900|MONDO:MONDO:0009283,MedGen:C0342873,OMIM:231690,Orphanet:35706|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.588	0.128627862391	0.0055	0.000599042	0.0056	0.0016	0.0003	0.0001	0.0041	0.0093	0.0035	0.0006	0.005388	833	154602	rs137852860	0.0057	0.0060	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0067	0.0011	0.0004	0.0013	0.0002	0.0060	0.0005	0.0068	0.0049	0.0005	0.0046	0.0046	0.0048	0.0044	0.0075	0.0043	0.0042	0.0070	0.0067	0.0015	0.0559	0.0005	0.0009	0	0.0060	0	0.0075	0.0019	0.0002	0.013	0.53900	D	0.022	0.58613	D	1.0	0.90584	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	0.150671	0.28519	A	2.29	0.65257	M	-1.05	0.76690	T	-3.57	0.72240	D	0.675	0.69474	-0.1555	0.78781	T	0.402	0.75317	T	9	0.057564437	0.06632	T	0.128628	0.81058	D	0.588	0.83526	.	.	0.635881898256	0.63289	0.6653704313250492	0.66474	.	.	.	.	.	0.163129	0.50806	T	-0.111548	0.34512	T	0.0812723	0.75664	D	0.0313816112250323	0.02207	T	0.929907	0.75597	D	0.73196846	0.79834	0.60874367	0.77246	0.781963	0.82776	0.6628725	0.80241	-12.377	0.87223	D	.	.	0.261	0.65968	B	.;.;.	.;.;.	3.618693	0.51202	23.1	0.99831769539613868	0.91370	0.57044	0.30273	D	AEFGBI	0.480887	0.52241	N	0.00680388542339002	0.42164	2.535376	-0.0902777117131462	0.35790	2.074906	0.992051895063501	0.32703	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	2.46	0.29032	0.756000	0.26084	-0.792000	0.07410	-0.180000	0.10397	0.677000	0.28411	0.003000	0.18671	0.767000	0.36405	0.313:0.6033:0.0:0.0837	6.68	0.22304	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	768.33	37	chr7	40459197	.	C	T	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.26;DP=728;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.317;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	18	0	1	0
chr7	40860388	40860388	C	T	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon13:c.C1082T:p.T361M,SUGCT:NM_001193313:exon14:c.C1226T:p.T409M,SUGCT:NM_001193311:exon15:c.C1304T:p.T435M,SUGCT:NM_024728:exon15:c.C1193T:p.T398M	Glutaric aciduria III, Autosomal recessive	423	1094	5	0	0	5	0.00227998	.	.	.	549936	not_provided|SUGCT-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.402	.	0.0028	0.00219649	0.0049	0.0003	0.0010	0.0001	0.0314	0.0045	0.0100	0.0038	0.0044243	684	154602	rs192063213	0.0042	0.0042	0.0041	0.0043	0.0042	0.0041	0.0041	0.0039	0.0037	0.0004	0.0009	0.0001	2.519e-05	0.0312	0.0016	0.0034	0.0046	0.0042	0.0045	0.0045	0.0032	0.0058	0.0039	0.0042	0.0041	0.0035	0.0033	0.0007	0	0.0013	0	0.0002	0.0330	0	0.0039	0.0014	0.0029	0.074	0.36709	T	0.053	0.54159	T	0.019	0.17989	B	0.018	0.18489	B	0.022496	0.01574	N	2.269920	1	0.08975	N	1.355	0.33814	L	-0.05	0.63403	T	-1.3	0.34596	N	0.129	0.12341	-0.7791	0.56353	T	0.314	0.68433	T	10	0.0041528344	0.00082	T	.	.	.	0.402	0.71558	.	.	0.0551355673512	0.04727	0.4418472074531703	0.44101	.	.	.	.	.	0.09325	0.39172	T	-0.331473	0.06001	T	-0.247824	0.50032	T	0.00535397495144752	0.00058	T	0.436756	0.41780	T	0.025988776	0.01600	0.06695644	0.13788	0.03558283	0.04214	0.078303196	0.17525	-5.426	0.41169	T	.	.	0.076	0.13315	B	.;.;.	.;.;.	-0.285462	0.02682	0.346	0.82834308858441941	0.14400	0.03564	0.08772	N	AEFGBCI	0.045194	0.07363	N	-1.69921618547489	0.00845	0.03653409	-1.79498626131143	0.00775	0.03458496	0.999998107360934	0.74766	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.620846	0.47308	0	.	.	5.51	-7.26	0.01317	-0.524000	0.06309	-1.591000	0.05105	-1.882000	0.00541	0.000000	0.06391	0.000000	0.08366	0.135000	0.19760	0.3946:0.2838:0.1039:0.2178	1.433	0.02196	891	0.26808	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1710.33	42	chr7	40860388	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=905;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.214;SOR=0.659	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr7	42048557	42048557	G	A	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon5:c.C613T:p.R205C	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1583790	Inborn_genetic_diseases|Greig_cephalopolysyndactyly_syndrome|Pallister-Hall_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.459	0.246430408368	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs767832980	2.668e-05	2.668e-05	3.268e-05	2.063e-05	4.637e-05	1.998e-05	1.754e-05	2.201e-05	1.942e-05	2.987e-05	0	0	0	0	0	3.058e-05	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.74	0.50459	T	-6.88	0.93217	D	0.924	0.92784	-0.4309	0.71037	T	0.291	0.66316	T	10	0.70039606	0.72406	D	0.24643	0.88927	D	0.459	0.75687	0.402	0.43245	0.865438082875	0.86413	0.7056391532323111	0.70505	0.722435390208	0.62276	0.840439081192	0.88162	D	0.85586	0.96760	D	0.245739	0.78201	D	0.130696	0.78937	D	0.946977317333221	0.62583	D	0.959804	0.84855	D	0.6713355	0.76504	0.39442566	0.64137	0.6713355	0.76506	0.39442566	0.64137	-10.321	0.75811	D	0.968081676469792	0.98997	0.503	0.64704	A	.;.	.;.	4.657355	0.74301	26.1	0.99891358274584563	0.96513	0.94708	0.62057	D	AEFBI	0.692527	0.65216	D	0.41459679585326	0.62224	4.43492	0.363389471216726	0.59317	4.108656	0.410786487379796	0.20210	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.55	4.65	0.57626	3.832000	0.55485	9.866000	0.82092	-0.247000	0.07223	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:0.6074:0.3926	13.874	0.63145	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3887.33	127	chr7	42048557	.	G	A	3887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1555;ExcessHet=0;FS=4.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.347;SOR=0.962	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr7	42937503	42937503	C	T	exonic	MRPL32	.	nonsynonymous SNV	MRPL32:NM_031903:exon3:c.C494T:p.P165L	.	430	1084	7	1	0	9	0.00413413	.	.	.	2197957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0198994314707	.	0.000399361	0.0002	0	8.7e-05	0	0	6.002e-05	0	0.0014	0.000194	30	154602	rs549081927	0.0001	0.0001	7.759e-05	0.0002	0.0019	0.0001	0.0001	0.0011	0.0010	5.974e-05	4.473e-05	0	0	0	0.0019	3.327e-05	0.0002	0.0013	8.542e-05	8.532e-05	0.0001	6.721e-05	0.0010	4.957e-05	3.963e-05	0.0004	0.0003	9.637e-05	0	0	0	0	0	0	5.88e-05	0	0.0010	0.004	0.65419	D	0.129	0.34837	T	0.874	0.48047	P	0.075	0.28327	B	0.000131	0.49741	N	0.243352	1	0.81001	D	2.915	0.84231	M	.	.	.	-4.82	0.80851	D	0.461	0.49783	-0.7249	0.59220	T	0.171	0.51277	T	9	0.042028457	0.02912	T	0.019899	0.42377	T	0.247	0.55478	.	.	0.406257615169	0.40241	0.6200606983131832	0.61939	0.0609977480483	0.06789	0.432169377804	0.29504	T	0.093305	0.39184	T	-0.224276	0.17414	T	-0.130312	0.60945	T	0.322109431028366	0.25907	T	0.821518	0.48098	T	0.22549747	0.45211	0.15345405	0.36059	0.22549747	0.45211	0.15345405	0.36059	-3.638	0.18408	T	.	.	0.089	0.12132	B	.	.	2.882995	0.38162	20.7	0.97616127666400443	0.34938	0.98325	0.81646	D	AEFGBI	0.921589	0.89531	D	0.122077126740152	0.47495	2.97436	0.0796240075223911	0.43524	2.652482	0.99999999997872	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.03	0.67015	7.251000	0.77723	2.211000	0.31368	0.596000	0.33519	0.997000	0.40164	0.924000	0.28388	0.005000	0.06747	0.0:0.9327:0.0:0.0673	15.183	0.72656	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1577.33	41	chr7	42937503	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=983;ExcessHet=0;FS=3.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.446;SOR=0.434	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:54,27:81:56:56,0,1317	10	0	9	0
chr7	43800512	43800512	G	A	exonic	BLVRA	.	nonsynonymous SNV	BLVRA:NM_000712:exon6:c.G400A:p.A134T,BLVRA:NM_001253823:exon7:c.G400A:p.A134T	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant	0	1499	22	1	0	24	0.00794176	.	.	.	2117910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	0.00158489144956	0.0009	0.00119808	0.0014	0.0004	0	0.0005	0	0.0008	0	0.0065	0.0012225	189	154602	rs149777705	0.0009	0.0009	0.0007	0.0011	0.0070	0.0008	0.0008	0.0065	0.0063	0.0001	0.0002	7.653e-05	2.519e-05	0	0.0043	0.0005	0.0008	0.0070	0.0008	0.0008	0.0007	0.0008	0.0068	0.0006	0.0006	0.0050	0.0044	0.0004	0	0.0003	0	0	0	0.0102	0.0008	0.0009	0.0068	0.201	0.20306	T	0.106	0.37872	T	0.007	0.14184	B	0.002	0.06944	B	0.000017	0.62929	D	0.148180	0.988626	0.24389	N	0.895	0.22405	L	1.96	0.22270	T	-0.34	0.12661	N	0.174	0.18649	-1.0470	0.15246	T	0.030	0.12848	T	10	0.008343786	0.00189	T	0.001585	0.02523	T	0.052	0.14661	.	.	0.336892272479	0.33291	0.21129465543673692	0.21045	0.198753139644	0.22255	0.58534014225	0.50838	T	0.025684	0.19158	T	-0.532842	0.00370	T	-0.535278	0.18762	T	0.0120343098674384	0.00190	T	0.774123	0.40598	T	0.091147415	0.21350	0.07763785	0.17315	0.103402965	0.24441	0.101527795	0.24308	-4.616	0.32372	T	.	.	0.084	0.10208	B	.;.	.;.	3.536429	0.49643	22.8	0.99356288992233344	0.60820	0.60002	0.31072	D	AEFBI	0.145683	0.26894	N	-0.19555428789303	0.33318	1.888954	-0.0146671438037346	0.39051	2.309696	0.0205481302936694	0.13268	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	3.53	0.39533	3.428000	0.52560	5.140000	0.47705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.267:0.0:0.733:0.0	6.838	0.23130	774	0.48577	Biliverdin reductase, catalytic;Biliverdin reductase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004541	0.015152	0.004076	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1053.33	36	chr7	43800512	.	G	A	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=719;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.35;SOR=1.154	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr7	44058434	44058434	C	T	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001284313:exon6:c.C398T:p.T133M,DBNL:NM_001284315:exon6:c.C425T:p.T142M,DBNL:NM_001014436:exon8:c.C707T:p.T236M,DBNL:NM_001122956:exon8:c.C710T:p.T237M,DBNL:NM_001362723:exon8:c.C707T:p.T236M,DBNL:NM_014063:exon8:c.C710T:p.T237M	.	430	1063	26	3	0	32	0.0148285	.	.	.	2828416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.067	0.0290858482002	0.0018	0.00199681	0.0025	0.0006	0.0050	0	0.0005	0.0031	0.0091	0.0012	0.0025032	387	154602	rs147233974	0.0023	0.0023	0.0022	0.0023	0.0151	0.0022	0.0022	0.0125	0.0116	0.0012	0.0042	0.0023	7.557e-05	0.0002	0.0151	0.0023	0.0029	0.0015	0.0020	0.0020	0.0019	0.0021	0.0044	0.0018	0.0018	0.0036	0.0033	0.0005	0	0.0044	0.0020	0	9.411e-05	0.0374	0.0026	0.0057	0.0027	0.077	0.34095	T	0.1	0.38742	T	0.966	0.70673	D	0.326	0.57495	B	0.018866	0.01497	U	4.697910	0.973912	0.29272	N	2.14	0.59869	M	1.92	0.31987	T	-0.71	0.20145	N	0.142	0.23632	-1.0653	0.10479	T	0.089	0.34188	T	10	0.0039149225	0.00075	T	0.029086	0.51659	D	0.067	0.19503	.	.	0.727266359203	0.72484	0.11274168268765865	0.11202	0.280312759657	0.30512	0.387506514788	0.23317	T	0.053909	0.29574	T	-0.51088	0.00496	T	-0.508726	0.21446	T	0.026301207779149	0.01447	T	0.509649	0.27701	T	0.044559132	0.07143	0.03565536	0.02858	0.044559132	0.07142	0.03565536	0.02858	-6.353	0.49345	T	.	.	0.078	0.10787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.260788	0.28888	17.94	0.99611637508511397	0.74873	0.74282	0.36336	D	ALL	0.223186	0.34758	N	-0.19036515644783	0.33534	1.903626	-0.231055662174674	0.30430	1.713258	0.999999843721033	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	2.13	0.26445	2.386000	0.44034	0.988000	0.23172	0.599000	0.40250	0.946000	0.32893	0.027000	0.21108	0.136000	0.19798	0.3743:0.4254:0.092:0.1082	3.312	0.06609	693	0.58582	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018687	0.000000	0.028533	0.020588	0.000000	0.025862	0.018405	0.011450	0.02632	1263.33	35	chr7	44058434	.	C	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.489;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.14;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1336	18	0	1	0
chr7	44113771	44113771	T	C	exonic	AEBP1	.	nonsynonymous SNV	AEBP1:NM_001129:exon21:c.T2987C:p.M996T	.	425	1095	2	0	0	2	0.000912409	.	.	.	2140304	not_provided|AEBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.090	.	.	0.00279553	0.0012	9.623e-05	8.637e-05	0	0	0	0.0011	0.0083	0.001009	156	154602	rs551347012	0.0004	0.0004	0.0003	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	2.236e-05	0	0	0	0.0003	4.496e-06	0.0008	0.0068	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0089	0.048	0.40068	D	0.329	0.18617	T	0.038	0.44062	B	0.053	0.37260	B	0.000006	0.62929	D	0.078268	0.99572	0.42826	D	1.79	0.46772	L	2.61	0.13095	T	-1.18	0.30140	N	0.471	0.62611	-1.0678	0.09903	T	0.027	0.11707	T	10	0.0061174035	0.00138	T	.	.	.	0.090	0.26093	0.327	0.31034	0.248417906384	0.24464	0.6012272663287493	0.60053	0.817834884163	0.67014	0.679500758648	0.64196	T	0.111132	0.42639	T	-0.429113	0.01500	T	-0.384742	0.35166	T	0.0350731201890645	0.02820	T	0.675032	0.28342	T	0.28014028	0.51062	0.2662792	0.52471	0.24521752	0.47478	0.24864541	0.50418	-8.598	0.65076	D	.	.	0.760	0.75478	P	.;.	.;.	3.587111	0.50598	23.0	0.98115957007509813	0.38391	0.92245	0.55270	D	AEFDGBHCI	0.659737	0.63055	D	0.0150708359732349	0.42540	2.565107	0.14949877025313	0.47116	2.946673	0.999999999983237	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	1.707000	0.37507	7.807000	0.69316	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.736	0.69031	632	0.64850	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2916.33	33	chr7	44113771	.	T	C	2916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.272;DP=946;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.31;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W,NPC1L1:NM_001300967:exon2:c.C1249T:p.R417W,NPC1L1:NM_013389:exon2:c.C1249T:p.R417W	.	425	1089	8	0	0	8	0.00365965	.	.	.	3191555	NPC1L1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1283.33	35	chr7	44539148	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=751;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.642;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr7	44624507	44624507	C	T	exonic	OGDH	.	nonsynonymous SNV	OGDH:NM_001003941:exon2:c.C164T:p.S55L,OGDH:NM_001165036:exon2:c.C164T:p.S55L,OGDH:NM_001363523:exon2:c.C164T:p.S55L,OGDH:NM_002541:exon2:c.C164T:p.S55L	Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive	9	1488	24	1	0	26	0.00866089	.	.	.	711001	not_provided|OGDH-related_disorder|Oxoglutaricaciduria	MedGen:C3661900|.|MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0065	0.00239617	0.0073	0.0012	0.0041	0.0001	0.0051	0.0113	0.0099	0.0013	0.0074385	1150	154602	rs2230445	0.0084	0.0084	0.0085	0.0083	0.0108	0.0083	0.0082	0.0096	0.0095	0.0012	0.0053	0.0064	0.0005	0.0069	0.0108	0.0097	0.0077	0.0017	0.0065	0.0065	0.0067	0.0063	0.0102	0.0062	0.0060	0.0096	0.0093	0.0013	0.0493	0.0056	0.0089	0	0.0054	0.0102	0.0102	0.0057	0.0010	0.002	0.78490	D	0.073	0.76473	T	0.196	0.49185	B	0.026	0.46066	B	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.04	0.55661	M	3.18	0.44065	T	-1.04	0.79229	N	0.675	0.82761	-0.8200	0.53933	T	0.099	0.36882	T	10	0.008775711	0.00199	T	.	.	.	0.240	0.54500	.	.	0.585511498628	0.58225	0.7184091987425503	0.71783	0.468580847674	0.46195	0.668700695038	0.62653	T	0.007884	0.80993	T	-0.124402	0.32405	T	0.0602058	0.74259	D	0.0248309922447693	0.01251	T	0.967253	0.96997	D	0.75910515	0.81400	0.68841344	0.81671	0.75910515	0.81402	0.68841344	0.81672	-8.419	0.75147	D	.	.	0.258	0.68156	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.186321	0.63061	24.5	0.99880893242462043	0.95733	0.97124	0.72830	D	AEFDBI	0.737590	0.68274	D	0.303422790274948	0.56324	3.79694	0.329612306434553	0.57285	3.893858	0.999999998296174	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	3.85	0.43556	5.790000	0.68684	4.891000	0.45764	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8538:0.1462:0.0	14.694	0.68723	605	0.67457	2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain	.	.	.	.	rs55711887	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.035354	0.019022	0.000000	0.000000	0.008621	0.012195	0.007576	0.02632	621.33	36	chr7	44624507	.	C	T	621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=726;ExcessHet=0;FS=4.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.797;SOR=1.562	GT:AD:DP:GQ:PL	0/1:26,22:48:99:635,0,611	18	0	1	0
chr7	44966198	44966198	G	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.C2032A:p.H678N	.	8	1506	8	0	0	8	0.00264901	.	.	.	3547187	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	.	0.0045	0.00139776	0.0043	0.0007	0.0005	0	0.0145	0.0061	0.0060	0.0006	0.0039068	604	154602	rs141505221	0.0048	0.0049	0.0049	0.0048	0.0054	0.0047	0.0047	0.0053	0.0052	0.0006	0.0009	0.0021	0	0.0140	0.0007	0.0054	0.0032	0.0004	0.0046	0.0045	0.0044	0.0047	0.0065	0.0043	0.0042	0.0060	0.0058	0.0007	0	0.0012	0.0020	0	0.0168	0	0.0065	0.0052	0.0006	0.307	0.14159	T	0.306	0.19972	T	0.06	0.23119	B	0.06	0.26717	B	0.000737	0.42129	D	0.000000	0.999864	0.50061	D	0.865	0.21413	L	-0.59	0.71543	T	-1.7	0.40468	N	0.566	0.58968	-0.8598	0.51277	T	0.162	0.49847	T	10	0.007805586	0.00177	T	.	.	.	0.074	0.21613	.	.	0.63538471256	0.63239	0.6958145942834287	0.69522	0.729681231108	0.62676	0.704283297062	0.67764	T	0.181687	0.53345	T	-0.392426	0.02595	T	-0.32993	0.41477	T	0.0133794771716969	0.00242	T	0.616438	0.23930	T	0.25378352	0.48402	0.115964726	0.27995	0.25378352	0.48402	0.115964726	0.27994	-8.869	0.66849	D	.	.	0.234	0.46745	B	.;.	.;.	2.964845	0.39493	21.0	0.98976368274704352	0.49640	0.89050	0.49288	D	AEFDGBHCI	0.683704	0.64629	D	-0.108517870694392	0.37020	2.147976	0.049992138280497	0.42072	2.538356	0.999999995420061	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	3.417000	0.52471	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0952:0.0:0.9048:0.0	10.003	0.41114	716	0.55970	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001514	0.000000	0.000000	0.005882	0.000000	0.000000	0.003067	0.003817	0.02632	2387.33	39	chr7	44966198	.	G	T	2387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=811;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.51;ReadPosRankSum=1.32;SOR=0.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	18	0	1	0
chr7	44967694	44967694	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon14:c.G1693A:p.D565N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0345319884909	.	.	8.274e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs747346222	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.323	0.18959	T	0.037	0.20876	B	0.081	0.28987	B	0.000605	0.42945	D	0.000000	0.560078	0.31264	N	0.785	0.19527	N	-0.62	0.71895	T	-0.86	0.23372	N	0.388	0.42931	-0.6568	0.62417	T	0.214	0.57573	T	10	0.13840151	0.26322	T	0.034532	0.55736	D	0.045	0.12272	0.403	0.43408	0.62036161985	0.61728	0.274427949162739	0.27355	1.10983627166	0.78020	0.590180754662	0.51519	T	0.194843	0.55074	T	-0.219646	0.18042	T	-0.456429	0.26988	T	0.425056667081326	0.29877	T	0.79652	0.44001	T	0.12833177	0.30005	0.060595177	0.11566	0.12833177	0.30005	0.060595177	0.11566	-2.831	0.08472	T	.	.	0.105	0.19194	B	.;.	.;.	4.227958	0.63999	24.6	0.99756227976626988	0.84694	0.74250	0.36320	D	ALL	0.274893	0.38997	N	-0.0725746040385274	0.38599	2.263142	0.0638129830721016	0.42745	2.590812	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.36	4.48	0.53973	2.028000	0.40709	3.993000	0.41005	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.6841:0.1642:0.1517	6.227	0.19925	721	0.55360	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1198.33	34	chr7	44967694	.	C	T	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=705;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.243;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1326	18	0	1	0
chr7	44976914	44976914	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon2:c.G253A:p.A85T	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.0239828994509	7.7e-05	.	0.0001	0	8.676e-05	0.0001	0	1.521e-05	0.0045	0.0006	0.00011	17	154602	rs377581554	3.969e-05	3.967e-05	2.451e-05	5.503e-05	0.0004	3.114e-05	2.848e-05	0.0003	0.0002	2.987e-05	4.472e-05	0	0	0	0	1.529e-05	0.0001	0.0004	1.314e-05	1.313e-05	0	2.689e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	0	0.0005	0	0.149	0.24758	T	0.097	0.39190	T	0.999	0.77913	D	0.924	0.65913	D	0.042197	0.23868	N	0.206931	0.998286	0.44722	D	2.195	0.61839	M	-1.78	0.83737	D	-2.9	0.60827	D	0.477	0.51226	0.070	0.83624	D	0.589	0.85263	D	10	0.29100686	0.46680	T	0.023983	0.46960	T	0.585	0.83360	.	.	0.59734385502	0.59414	0.7897891662886288	0.78930	0.734115872329	0.62878	0.445233404636	0.31293	T	0.600354	0.87182	D	-0.179758	0.23772	T	-0.153255	0.58954	T	0.309217691421509	0.25382	T	0.763424	0.39759	T	0.17873882	0.38909	0.32903683	0.58786	0.17873882	0.38909	0.32903683	0.58786	-8.203	0.62445	D	.	.	0.186	0.40164	B	.;.	.;.	4.592066	0.72647	25.9	0.99423745905674632	0.63887	0.87526	0.47094	D	AEFBCI	0.449803	0.50447	N	-0.0609352077187968	0.39115	2.301575	-0.152574790755301	0.33309	1.904036	0.999999970752087	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.93	3.03	0.34070	4.017000	0.56879	4.802000	0.44976	-0.172000	0.11096	0.999000	0.42656	1.000000	0.68203	0.286000	0.24163	0.0:0.9125:0.0:0.0875	13.658	0.61821	774	0.48577	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1439.33	122	chr7	44976914	.	C	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.694;DP=750;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.118;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr7	45080752	45080752	G	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon7:c.C4562T:p.A1521V	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.015401626754	0.0002	0.000798722	0.0009	0	0	0	0	0.0005	0	0.0017	0.0001552	24	154602	rs377008938	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0020	0.0017	3.165e-05	0.0002	0.0004	0	0	0.0032	8.527e-05	0.0005	0.0020	0.0001	0.0001	0.0001	0.0002	0.0023	8.658e-05	7.251e-05	0.0013	0.0010	0	0	0.0003	0.0003	0	0	0	4.411e-05	0.0005	0.0023	0.002	0.72154	D	0.029	0.54541	D	0.994	0.66517	D	0.542	0.48916	P	0.044721	0.23608	N	0.441004	0.976431	0.25374	N	1.61	0.41143	L	2.69	0.12268	T	-2.24	0.50175	N	0.18	0.19459	-1.0756	0.08225	T	0.029	0.12322	T	10	0.010412812	0.00232	T	0.015402	0.36109	T	0.123	0.34020	.	.	0.454426139905	0.45068	0.33423516624792166	0.33336	0.0087170718427	0.00791	0.494011521339	0.37996	T	0.019457	0.15501	T	-0.510061	0.00502	T	-0.511919	0.21119	T	0.097372351411092	0.12065	T	0.967003	0.87984	D	0.09993744	0.23592	0.17105918	0.39261	0.09993744	0.23592	0.17105918	0.39260	-6.915	0.53410	T	.	.	0.247	0.48124	B	.	.	4.411955	0.68264	25.2	0.99906285539164219	0.97651	0.95125	0.63529	D	AEFDBI	0.463248	0.51224	N	0.206917990082091	0.51533	3.333831	0.215009899648274	0.50680	3.257544	0.668594599347881	0.22350	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.664235	0.64389	0	.	.	4.36	3.45	0.38602	5.910000	0.69668	5.817000	0.50053	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0922:0.0:0.9078:0.0	11.537	0.49898	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002119	0.000000	0.006787	0.003623	0.000000	0.000000	0.000000	0.000000	0.05263	5301.83	39	chr7	45080752	.	G	A	5301.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.54;DP=1314;ExcessHet=0.119;FS=2.481;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-1.071;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	17	0	2	0
chr7	45082362	45082362	G	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.C3818T:p.P1273L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0168751961378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.078	0.42261	T	0.997	0.70673	D	0.878	0.62312	P	0.100341	0.02541	U	16.722900	1	0.08975	N	1.245	0.31408	L	2.47	0.14783	T	-4.7	0.79829	D	0.162	0.17002	-1.0582	0.12209	T	0.063	0.26208	T	10	0.16849577	0.31404	T	0.016875	0.38341	T	0.036	0.09122	0.208	0.12497	0.33085137897	0.32697	0.10305493048065069	0.10235	0.00381333933618	0.00329	0.320897102356	0.13558	T	0.057561	0.30601	T	-0.306528	0.08057	T	-0.678082	0.07101	T	0.531422138214111	0.33786	D	0.582642	0.21138	T	0.054461285	0.10451	0.09503688	0.22522	0.054461285	0.10450	0.09503688	0.22522	-4.453	0.30269	T	.	.	0.076	0.05845	B	.	.	1.913349	0.24300	16.35	0.98711017464439688	0.45054	0.00593	0.02656	N	AEFDBI	0.035577	0.04603	N	-0.388245546096222	0.25887	1.408632	-0.592206172250763	0.19695	1.057862	0.660226795391123	0.22262	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.36	2.01	0.25568	0.133000	0.15736	1.642000	0.27798	0.665000	0.62972	0.000000	0.06391	0.003000	0.18671	0.619000	0.31870	0.406:0.0:0.594:0.0	4.025	0.09169	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	33	chr7	45082362	.	G	A	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=727;ExcessHet=0;FS=4.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=0.397;SOR=0.819	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1231	18	0	1	0
chr7	45084105	45084224	TCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1956_2075del:p.E652_T691del	.	663	845	13	1	0	15	0.00879765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0179	0.0380	0	0	0.0769	0.0071	0	0.0403	.	.	.	.	0.0139	0.0013	0.0148	0.0132	0.2052	0.0132	0.0129	0.1741	0.1625	0.2052	0.0130	0.0159	0.0024	0.0129	0.0316	0.0115	0.0114	0.0236	0.0141	0.0024	0.0117	0.0159	0.1000	0.0092	0.0077	0.0187	0.0128	0.0429	.	0.0149	0	0	0.0156	0	0.0066	0	0.1000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	592.8	4	chr7	45084104	.	ATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGT	A	592.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.938;DP=159;ExcessHet=0;FS=0;InbreedingCoeff=0.6478;MLEAC=2;MLEAF=0.053;MQ=39.22;MQRankSum=0.876;QD=22.8;ReadPosRankSum=-1.18;SOR=0.544	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,421	18	1	0	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	1177.08	4	chr7	45084224	.	T	*	1177.08	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.96;DP=787;ExcessHet=0.0731;FS=31.269;InbreedingCoeff=0.1446;MLEAC=3;MLEAF=0.136;MQ=45.07;MQRankSum=-1.997;QD=6.1;ReadPosRankSum=-1.915;SOR=2.282	GT:AD:DP:GQ:PL	0/0:52,0:52:74:0,74,1376	10	1	0	8
chr7	45085707	45085707	T	G	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.A473C:p.Q158P	.	414	1080	27	1	0	29	0.0132481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	.	0.00339457	0.0072	0	0.0039	0.0023	0	0.0002	0.0141	0.0125	0.0008021	124	154602	rs146961641	0.0008	0.0008	0.0005	0.0011	0.0117	0.0008	0.0008	0.0111	0.0108	3.166e-05	0.0003	0.0001	0	0	0.0056	9.177e-05	0.0009	0.0117	0.0006	0.0006	0.0005	0.0007	0.0131	0.0005	0.0004	0.0105	0.0096	0	0	0.0003	0	0.0004	0	0	0.0003	0	0.0131	0.0	0.91255	D	0.142	0.33330	T	0.998	0.73220	D	0.99	0.78936	D	0.192363	0.03259	N	1.864850	0.573069	0.31162	N	1.04	0.26193	L	2.54	0.13916	T	-3.18	0.64478	D	0.362	0.40364	-1.0817	0.07022	T	0.073	0.29610	T	10	0.006570399	0.00149	T	.	.	.	0.126	0.34673	.	.	0.299770980665	0.29595	0.39611227998121523	0.39526	0.00755387287408	0.00669	0.402677625418	0.25441	T	0.106951	0.41873	T	-0.462756	0.00945	T	-0.427106	0.30264	T	0.0999575670946883	0.12353	T	0.571443	0.20372	T	0.6628588	0.76052	0.5540378	0.74209	0.6628588	0.76053	0.5540378	0.74209	-1.594	0.01968	T	.	.	0.110	0.21353	B	.	.	3.708725	0.52937	23.3	0.99210959378101049	0.55594	0.67515	0.33461	D	AEFDBI	0.278194	0.39253	N	0.223830186903498	0.52357	3.410281	0.171268560916696	0.48280	3.046052	0.994651160390646	0.33737	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.4	4.4	0.52402	0.669000	0.24823	4.994000	0.46548	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	9.915	0.40597	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002918	0.000000	0.000000	0.000000	0.000000	0.000000	0.005155	0.000000	0.05263	3020.81	47	chr7	45085707	.	T	G	3020.81	.	AC=2;AF=0.053;AN=38;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.82;SOR=1.014	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1258	18	1	0	0
chr7	45103364	45103364	T	A	exonic	TBRG4	.	nonsynonymous SNV	TBRG4:NM_030900:exon4:c.A815T:p.H272L,TBRG4:NM_199122:exon4:c.A815T:p.H272L,TBRG4:NM_001261834:exon6:c.A1178T:p.H393L,TBRG4:NM_004749:exon6:c.A1145T:p.H382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00550252937395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.032	0.53426	D	0.002	0.39964	B	0.015	0.31021	B	0.006727	0.31837	N	0.387583	0.795135	0.34438	D	.	.	.	1.04	0.40218	T	-1.77	0.69714	N	0.412	0.48780	-1.0244	0.22279	T	0.059	0.24575	T	10	0.2208969	0.38799	T	0.005503	0.14166	T	0.094	0.27141	0.581	0.70733	0.0675242888579	0.06100	0.25988205990328384	0.25902	0.505976075936	0.48825	0.255722105503	0.04394	T	0.007263	0.06675	T	-0.122055	0.32789	T	-0.4131	0.31867	T	0.40434741973877	0.29106	T	0.762724	0.38847	T	0.070000164	0.15382	0.085244425	0.19670	0.070000164	0.15382	0.085244425	0.19669	-2.14	0.03759	T	.	.	0.106	0.29560	B	.;.;.;.	.;.;.;.	0.432313	0.08027	4.746	0.92851450895876353	0.22390	0.94200	0.60417	D	AEFDBCI	0.380781	0.46329	N	-0.637443206535772	0.17828	0.920696	-0.630057372958298	0.18723	1.001428	0.829305322480282	0.24664	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.59	-2.04	0.06937	0.202000	0.17094	-7.865000	0.01071	0.665000	0.62972	0.828000	0.30104	0.000000	0.08366	0.998000	0.85391	0.0:0.2673:0.0:0.7327	11.133	0.47584	712	0.56465	FAST kinase leucine-rich;.;.;FAST kinase leucine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	47	chr7	45103364	.	T	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.45;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr7	45574791	45574791	C	T	exonic	ADCY1	.	nonsynonymous SNV	ADCY1:NM_021116:exon1:c.C248T:p.A83V	.	436	1085	1	0	0	1	0.000460617	.	.	.	1307069	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.208	.	.	0.00159744	0.0059	0	0.0013	0	0	0	0.0053	0.0150	0.001022	158	154602	rs375141353	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0080	6.922e-05	0	0	0	0	0.0002	1.842e-06	0.0005	0.0087	0.0002	0.0002	7.769e-05	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0	0	0	0	0.0005	0.0073	0.317	0.13699	T	0.244	0.24123	T	0.715	0.42183	P	0.054	0.25828	B	0.324801	0.14211	N	0.532223	1	0.81001	D	1.245	0.31408	L	-1.32	0.79761	T	-1.09	0.28290	N	0.201	0.22228	-0.8008	0.55097	T	0.215	0.57652	T	10	0.007783115	0.00177	T	.	.	.	0.208	0.49714	0.56	0.67958	0.829480766904	0.82786	0.27737573548685135	0.27650	1.25681484625	0.81929	0.799363732338	0.81866	T	0.246316	0.61576	T	-0.380063	0.03113	T	-0.311319	0.43515	T	0.0432191828600293	0.04278	T	0.551245	0.19007	T	0.042310473	0.06394	0.04432391	0.05718	0.044729725	0.07199	0.04797926	0.07030	-5.6	0.42792	T	.	.	0.094	0.14339	B	.	.	2.601158	0.33767	19.44	0.98746896793743244	0.45587	0.58543	0.30670	D	ALL	0.159174	0.28493	N	-0.41990690664501	0.24772	1.339946	-0.41250691864309	0.24629	1.34981	0.99999999999717	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.69	0.505	0.16157	0.678000	0.24956	1.748000	0.28453	0.417000	0.20760	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.3957:0.3718:0.2325:0.0	4.776	0.12551	929	0.16858	Adenylate cyclase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001524	0.000000	0.001366	0.002994	0.000000	0.008772	0.000000	0.000000	0.02632	809.33	33	chr7	45574791	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=698;ExcessHet=0;FS=2.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.661;SOR=1.019	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1186	18	0	1	0
chr7	45574854	45574854	C	T	exonic	ADCY1	.	nonsynonymous SNV	ADCY1:NM_021116:exon1:c.C311T:p.A104V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.635189749398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173497805	2.741e-06	2.736e-06	0	5.51e-06	1.16e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	0	4.973e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	0.04848	T	1.0	0.01155	T	0.716	0.42206	P	0.039	0.23607	B	0.002202	0.37012	N	0.233888	0.737514	0.81001	D	1.1	0.28011	L	-1.35	0.80035	T	-0.48	0.15379	N	0.28	0.31702	-0.7448	0.58206	T	0.177	0.52162	T	10	0.34439474	0.51433	T	0.63519	0.96877	D	0.259	0.57090	0.585	0.71245	0.68486654714	0.68217	0.4780964398212817	0.47729	1.26099718481	0.82023	0.863195598125	0.91581	D	0.233071	0.59979	T	-0.119685	0.33176	T	-0.309065	0.43760	T	0.445221066474915	0.30621	T	0.920408	0.71216	D	0.07406737	0.16596	0.06533969	0.13229	0.07406737	0.16596	0.06533969	0.13229	-4.657	0.32879	T	.	.	0.109	0.20741	B	.	.	3.738726	0.53519	23.4	0.92761079827712212	0.22271	0.81499	0.40890	D	AEFDGBHCI	0.254843	0.37408	N	-0.41129060541089	0.25072	1.358378	-0.347880947018185	0.26574	1.468764	0.999999999894453	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.48	2.59	0.30091	3.534000	0.53324	4.317000	0.42986	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8776:0.0:0.1224	8.220	0.30696	929	0.16858	Adenylate cyclase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2982.77	33	chr7	45574854	.	C	T	2982.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.35;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=-0.927;SOR=0.637	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1186	17	1	1	0
chr7	47368655	47368655	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1991T:p.A664V	.	417	1104	1	0	0	1	0.000452694	.	.	.	700092	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.273	.	0.0074	0.00599042	0.0021	0.0226	0.0009	0	0	9.307e-05	0	9.239e-05	0.0018693	289	154602	rs114488371	0.0007	0.0007	0.0008	0.0006	0.0256	0.0007	0.0007	0.0241	0.0236	0.0256	0.0011	0	0	0	0.0023	1.809e-05	0.0016	0.0001	0.0069	0.0069	0.0073	0.0065	0.0240	0.0066	0.0064	0.0227	0.0222	0.0240	0	0.0022	0	0	0	0.0102	7.35e-05	0.0062	0.0002	0.212	0.21884	T	0.31	0.19721	T	0.001	0.07471	B	0.001	0.04355	B	0.004036	0.01000	N	2.667530	1	0.08975	N	0.685	0.16464	N	-2.86	0.92007	D	-1.25	0.33401	N	0.055	0.02658	-0.4838	0.69231	T	0.413	0.76109	T	10	0.0035122037	0.00063	T	.	.	.	0.273	0.58883	.	.	0.466704794315	0.46296	0.2406373008904654	0.23977	.	.	0.309506624937	0.11833	T	0.086	0.37538	T	-0.409998	0.01987	T	-0.342786	0.40030	T	0.00382743987047421	0.00040	T	0.525647	0.17278	T	0.016828338	0.00225	0.024763819	0.00502	0.016828338	0.00225	0.024763819	0.00502	-4.646	0.32744	T	.	.	0.077	0.08657	B	.;.	.;.	0.421142	0.07917	4.624	0.94270029319779824	0.24557	0.04322	0.09878	N	AEFBI	0.051443	0.09089	N	-0.936719561257871	0.09992	0.4754618	-0.947352580124172	0.10984	0.5568171	0.999994231931826	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.45	-1.74	0.07622	-0.579000	0.05927	-1.473000	0.05360	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.1691:0.3281:0.2514:0.2514	1.296	0.01945	899	0.25060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.010101	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2013.33	87	chr7	47368655	.	G	A	2013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1576;ExcessHet=0;FS=6.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.062;SOR=0.83	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr7	47415145	47415145	A	G	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon11:c.T535C:p.F179L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.278834789446	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773600889	6.849e-07	6.84e-07	1.363e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000004	0.62929	D	0.106561	0.999752	0.48800	D	2.275	0.64647	M	-1.81	0.83970	D	-5.02	0.88699	D	0.8	0.83987	0.286	0.87332	D	0.688	0.89228	D	10	0.9366809	0.92997	D	0.278835	0.90156	D	0.798	0.93385	0.796	0.91657	0.609852891598	0.60671	0.5829698904869501	0.58225	.	.	0.709898233414	0.68579	T	0.575277	0.86004	D	0.274365	0.80828	D	0.15633	0.80580	D	0.995512545108795	0.87564	D	0.947705	0.82184	D	0.5233112	0.68449	0.54995704	0.73979	0.5233112	0.68450	0.54995704	0.73980	-9.122	0.68479	D	.	.	0.988	0.92981	P	.;.;.;.;.	.;.;.;.;.	4.319704	0.66108	24.9	0.99882211436039403	0.95813	0.98026	0.78979	D	AEFGBI	0.881240	0.80845	D	0.645058386596617	0.76049	6.415	0.611291402821204	0.75758	6.367664	0.999999999812818	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	8.259000	0.89790	10.901000	0.84138	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	1.0:0.0:0.0:0.0	11.618	0.50361	906	0.23090	Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1225.33	33	chr7	47415145	.	A	G	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.073;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.501;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	18	0	1	0
chr7	47811980	47811980	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon50:c.C7418T:p.S2473F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	416	1105	1	0	0	1	0.000452284	.	.	.	1036857	not_provided|Heterotaxy,_visceral,_8,_autosomal|PKD1L1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.270	0.0296333714007	0.0009	0.000199681	0.0015	0	0.0007	0	0	0.0015	0.0045	0.0034	0.0008797	136	154602	rs140456142	0.0013	0.0013	0.0012	0.0013	0.0026	0.0012	0.0012	0.0023	0.0022	0.0002	0.0006	0.0020	2.576e-05	0.0001	0.0012	0.0013	0.0015	0.0026	0.0009	0.0009	0.0009	0.0008	0.0017	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0010	0.0026	0	9.406e-05	0	0.0013	0.0014	0.0017	0.085	0.32769	T	0.037	0.51737	D	0.651	0.40707	P	0.289	0.40655	B	0.457613	0.12431	N	0.725348	0.999984	0.18198	N	1.935	0.51832	L	0.08	0.61559	T	-0.54	0.16598	N	0.623	0.63798	-1.0678	0.09903	T	0.090	0.34655	T	10	0.028206915	0.00956	T	0.029633	0.52109	D	0.270	0.58507	.	.	0.935548508261	0.93488	0.4438399725372522	0.44301	0.271124031238	0.29636	0.386809438467	0.23218	T	0.017857	0.14499	T	-0.361031	0.04072	T	-0.295676	0.45180	T	0.0249867314119857	0.01270	T	0.70513	0.31558	T	0.1806535	0.39197	0.21568714	0.46167	0.1806535	0.39197	0.21568714	0.46166	-2.792	0.08110	T	0.6192315395214746	0.68745	0.284	0.51695	B	.	.	2.735043	0.35810	20.0	0.98125612450548616	0.38473	0.03918	0.09304	N	AEFDGBI	0.056124	0.10350	N	-0.34591742054695	0.27423	1.504401	-0.25238099892343	0.29689	1.665401	0.99965724640242	0.41424	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	5.49	4.55	0.55429	0.826000	0.27061	4.025000	0.41286	0.606000	0.46413	0.001000	0.13787	0.947000	0.28924	0.960000	0.51673	0.0:0.166:0.6623:0.1717	8.508	0.32360	946	0.12043	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1760.33	33	chr7	47811980	.	G	A	1760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.699;DP=739;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.445;SOR=0.608	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1336	18	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:47829595_G_C:227,0,1671:47829595	8	0	5	6
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:47829595_G_C:227,0,1671:47829595	4	0	15	0
chr7	47843041	47843041	T	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon34:c.A5366G:p.E1789G	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	424	1092	5	1	0	7	0.00319489	.	.	.	3216908	PKD1L1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00350799226516	7.7e-05	.	2.475e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs368140318	6.431e-05	6.43e-05	6.126e-05	6.738e-05	0.0045	5.362e-05	4.976e-05	0.0032	0.0027	8.963e-05	0	0	0	9.36e-05	0.0045	4.137e-05	0.0001	6.957e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.136	0.26085	T	0.022	0.57587	D	0.126	0.26920	B	0.023	0.19966	B	0.511845	0.11836	N	0.755716	0.999972	0.18612	N	1.795	0.47270	L	2.18	0.18875	T	-3.74	0.71042	D	0.181	0.19593	-1.0193	0.23943	T	0.026	0.11264	T	10	0.093857825	0.16644	T	0.003508	0.07969	T	0.045	0.12272	.	.	0.679604333237	0.67688	0.54218332259973	0.54143	0.122578150867	0.13811	0.351744562387	0.18179	T	0.283162	0.65592	T	-0.391982	0.02612	T	-0.598177	0.12964	T	0.0442588396963682	0.04468	T	0.409559	0.10569	T	0.12889436	0.30121	0.18497162	0.41582	0.12889436	0.30121	0.18497162	0.41581	-4.278	0.27867	T	0.3037297570323424	0.40126	0.080	0.07745	B	.	.	0.284929	0.06614	3.110	0.99724963026634961	0.82336	0.01907	0.05839	N	AEFDBI	0.049745	0.08626	N	-0.998951837478029	0.08626	0.4051936	-1.04057781757873	0.08904	0.4401638	0.794452689743788	0.24073	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.4	-1.33	0.08693	-0.203000	0.09440	-0.001000	0.13204	0.665000	0.62972	0.008000	0.17931	0.004000	0.18990	0.068000	0.16518	0.0:0.3128:0.1341:0.5531	5.760	0.17461	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005595	0.000000	0.006812	0.008824	0.000000	0.017241	0.003125	0.000000	0.07895	2319.77	35	chr7	47843041	.	T	C	2319.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.964;DP=682;ExcessHet=0;FS=1.667;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=-0.81;SOR=0.49	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	17	1	1	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.02632	835.33	76	chr7	47853147	.	A	G	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=692;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.268;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	18	0	1	0
chr7	47885922	47885922	C	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon18:c.G2969A:p.R990Q	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	700109	not_provided|Heterotaxy,_visceral,_8,_autosomal	MedGen:C3661900|MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00137267467748	0.0058	0.00179712	0.0037	0.0022	0.0010	0	0.0018	0.0059	0.0011	0.0007	0.0040038	619	154602	rs141646493	0.0063	0.0063	0.0065	0.0061	0.0076	0.0062	0.0061	0.0075	0.0074	0.0022	0.0011	0.0042	0	0.0013	0.0003	0.0076	0.0058	0.0006	0.0042	0.0042	0.0046	0.0037	0.0071	0.0039	0.0038	0.0066	0.0064	0.0025	0	0.0013	0.0032	0	0.0003	0.0034	0.0071	0.0038	0.0002	0.574	0.06106	T	0.645	0.06859	T	0.217	0.30183	B	0.011	0.15521	B	0.000000	0.00162	N	165.707000	1	0.08975	N	0.22	0.09567	N	2.11	0.19860	T	-0.17	0.09627	N	0.051	0.02272	-1.0339	0.19205	T	0.013	0.04843	T	10	0.004046321	0.00079	T	0.001373	0.01986	T	0.028	0.06331	.	.	0.417334834585	0.41349	0.10351698999999807	0.10281	0.11010610359	0.12427	0.162355750799	0.00013	T	0.015549	0.13024	T	-0.757664	0.00016	T	-0.851713	0.00938	T	0.00234658783613453	0.00024	T	0.394461	0.09873	T	0.034163415	0.03779	0.03656692	0.03128	0.034163415	0.03779	0.03656692	0.03128	-2.772	0.07928	T	0.11488898187744034	0.10216	0.081	0.08033	B	.	.	1.121079	0.15069	11.56	0.59940513460829592	0.06343	0.00624	0.02752	N	AEFBI	0.042471	0.06593	N	-1.78074339815358	0.00594	0.02559471	-1.88178693091269	0.00532	0.02357625	0.999929172862034	0.46280	0.516011	0.20929	0	0.563428	0.19063	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.97	-8.7	0.00738	-1.987000	0.01572	-7.145000	0.01221	-0.930000	0.02149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1463:0.1646:0.3674:0.3217	1.902	0.03070	929	0.16858	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1057.33	40	chr7	47885922	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.017;DP=750;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.698;SOR=0.986	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	18	0	1	0
chr7	47905259	47905259	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon11:c.C1589G:p.T530S	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0295903833756	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755509454	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.038	0.51421	D	0.615	0.39791	P	0.175	0.35598	B	0.312419	0.14411	N	0.586122	0.98375	0.24858	N	2.24	0.63355	M	-0.35	0.68616	T	-2.7	0.57599	D	0.309	0.34874	-0.8893	0.48995	T	0.181	0.52752	T	10	0.29705507	0.47268	T	0.02959	0.52069	D	0.221	0.51721	0.428	0.47515	0.883968086583	0.88283	0.22016656176351648	0.21932	0.287156622262	0.31114	0.499368548393	0.38740	T	0.174941	0.52435	T	-0.151071	0.28145	T	-0.454779	0.27170	T	0.436582805701969	0.30303	T	0.412159	0.10706	T	0.15539882	0.35124	0.1637786	0.37975	0.15539882	0.35124	0.1637786	0.37974	-4.236	0.27270	T	0.5630741781228765	0.63069	0.365	0.57511	A	.	.	2.795974	0.36766	20.3	0.97109357410951325	0.32404	0.92737	0.56423	D	AEFDBIJ	0.372570	0.45816	N	-0.134689790159026	0.35889	2.067196	-0.0537840709622286	0.37326	2.184045	0.999998228430758	0.74766	0.581397	0.33459	0	0.627178	0.54094	0	0.527494	0.11647	0	0.622129	0.49086	0	.	.	5.24	4.35	0.51454	5.564000	0.67060	5.455000	0.48656	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:0.1524:0.8476:0.0	14.048	0.64238	940	0.13648	PKD/Chitinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3399.81	36	chr7	47905259	.	G	C	3399.81	.	AC=2;AF=0.053;AN=38;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.77;SOR=1.008	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	1	0	0
chr7	48041411	48041414	AGCA	-	exonic	C7orf57	.	frameshift deletion	C7orf57:NM_001100159:exon3:c.133_136del:p.S45Ifs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs763237753	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2259.29	34	chr7	48041410	.	CAGCA	C	2259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=808;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-0.638;SOR=0.781	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:17:.:.:0,17,2315:.	6	0	12	1
chr7	48272001	48272001	A	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.A2335C:p.K779Q	.	423	1096	3	0	0	3	0.00136674	.	.	.	2379826	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00867703963465	.	0.000199681	8.377e-05	0	8.766e-05	0	0	0.0001	0	6.111e-05	7.12e-05	11	154602	rs550560732	7.459e-05	7.456e-05	6.672e-05	8.254e-05	0.0076	6.317e-05	5.875e-05	0.0058	0.0052	2.988e-05	6.715e-05	0	0	0	0.0076	3.688e-05	0.0003	2.32e-05	3.283e-05	3.281e-05	3.855e-05	2.685e-05	2.941e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0.0009	0	0.127	0.27080	T	0.276	0.21947	T	.	.	.	.	.	.	0.019212	0.01505	N	2.405560	1	0.08975	N	.	.	.	-2.3	0.87671	D	-0.64	0.18670	N	0.077	0.05162	-0.6396	0.63163	T	0.388	0.74312	T	10	0.032434702	0.01395	T	0.008677	0.22927	T	0.211	0.50185	.	.	0.383760037723	0.37989	0.059516028561455984	0.05891	0.0273965839986	0.02802	0.228852167726	0.01884	T	.	.	.	-0.362727	0.03978	T	-0.49913	0.22439	T	0.0655356244404991	0.08010	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20896	B	.	.	0.355036	0.07277	3.885	0.58876916943562518	0.06093	0.04908	0.10658	N	AEBI	0.077438	0.15601	N	-1.53279127252844	0.01638	0.07161355	-1.55393295261284	0.01949	0.08897055	8.62339334259741E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.98	0.03810	-0.046000	0.11937	0.588000	0.19789	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3656:0.2654:0.369:0.0	6.045	0.18980	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003021	0.005051	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2003.33	34	chr7	48272001	.	A	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=1235;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.948;SOR=0.885	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr7	48278342	48278342	T	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.T7148G:p.I2383R	.	432	1052	38	0	0	38	0.0177404	.	.	.	2828473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	0.00498755634318	0.0003	0.000998403	0.0020	0	0.0006	0	0	0.0009	0.0048	0.0100	0.0015718	243	154602	rs200243325	0.0011	0.0011	0.0008	0.0014	0.0100	0.0011	0.0010	0.0095	0.0093	2.988e-05	0.0004	0.0063	0	0	0.0069	0.0004	0.0014	0.0100	0.0008	0.0008	0.0007	0.0010	0.0081	0.0007	0.0007	0.0061	0.0054	7.216e-05	0	0.0010	0.0072	0	0	0.0068	0.0005	0.0009	0.0081	0.013	0.53900	D	0.05	0.48080	T	.	.	.	.	.	.	0.164925	0.03067	N	1.942520	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.66	0.19085	N	0.391	0.43223	-1.0175	0.24528	T	0.091	0.34792	T	10	0.005479306	0.00121	T	0.004988	0.12598	T	0.057	0.16321	.	.	0.0846915920261	0.08053	0.10403520779788683	0.10333	0.0386635034883	0.04113	0.242333874106	0.03005	T	.	.	.	-0.546901	0.00305	T	-0.5504	0.17288	T	0.014010140954155	0.00270	T	0.254275	0.03911	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.	.	-1.109950	0.00629	0.017	0.53413832604454525	0.04935	0.02346	0.06699	N	AEDBI	0.045459	0.07437	N	-1.62254898584142	0.01156	0.05024032	-1.76819471848401	0.00867	0.03873141	0.98170824009075	0.30299	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.57	-9.07	0.00619	-1.507000	0.02373	-2.078000	0.04246	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2193:0.38:0.1118:0.2888	2.202	0.03687	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1418.33	33	chr7	48278342	.	T	G	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=716;ExcessHet=0;FS=2.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.699;SOR=0.462	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr7	50368103	50368103	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C258G:p.C86W	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633516232254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.992	0.64738	D	0.668	0.53048	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.55	0.68764	D	0.367	0.40864	-1.0175	0.24528	T	0.112	0.40168	T	7	0.22200659	0.38941	T	0.006335	0.16639	T	0.049	0.13647	0.296	0.26041	0.134007934775	0.12933	.	.	.	.	.	.	.	0.208199	0.56807	T	-0.197415	0.21179	T	-0.521349	0.20158	T	0.298957865891781	0.24961	T	0.225777	0.02969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.77631	P	.	.	0.166192	0.05559	2.017	0.58119396721632754	0.05921	0.02436	0.06868	N	AEFGBIJ	0.155410	0.28061	N	-0.424791676120027	0.24603	1.329603	-0.604950428239627	0.19365	1.038678	0.99998324477684	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	3.1	0.34780	0.101000	0.15088	-0.142000	0.11507	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.1191:0.0:0.8809	5.968	0.18570	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	220.1	194	chr7	50368103	.	C	G	220.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.91;DP=2083;ExcessHet=0.7564;FS=116.86;InbreedingCoeff=-0.1132;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.09;SOR=9.49	GT:AD:DP:GQ:PL	0/1:137,18:156:93:93,0,4111	17	0	2	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:122,40:170:99:115,0,4008	9	0	8	2
chr7	50504057	50504057	C	A	exonic	DDC	.	nonsynonymous SNV	DDC:NM_001242888:exon5:c.G483T:p.M161I,DDC:NM_001242889:exon5:c.G438T:p.M146I,DDC:NM_001242886:exon6:c.G603T:p.M201I,DDC:NM_001242887:exon6:c.G573T:p.M191I,DDC:NM_000790:exon7:c.G717T:p.M239I,DDC:NM_001082971:exon7:c.G717T:p.M239I,DDC:NM_001242890:exon7:c.G717T:p.M239I	Aromatic L-amino acid decarboxylase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	711042	DDC-related_disorder|Deficiency_of_aromatic-L-amino-acid_decarboxylase|not_provided	.|MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0111738252458	0.0018	0.000798722	0.0025	9.625e-05	0	0	0.0073	0.0037	0.0033	6.058e-05	0.0022186	343	154602	rs11575377	0.0017	0.0017	0.0016	0.0018	0.0018	0.0017	0.0016	0.0018	0.0017	0.0001	0.0002	0.0017	0	0.0060	0.0003	0.0018	0.0015	0	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	9.625e-05	0	0.0004	0.0020	0	0.0077	0	0.0034	0.0014	0	0.009	0.57480	D	0.109	0.42976	T	0.0	0.02946	B	0.002	0.06944	B	0.001680	0.38326	N	0.252027	0.999744	0.21260	N	-1.185	0.00856	N	1.52	0.30669	T	1.13	0.03297	N	0.252	0.34552	-1.0163	0.24916	T	0.015	0.06042	T	10	0.009609818	0.00244	T	0.011174	0.28518	T	0.135	0.36572	0.107	0.01868	0.515659482774	0.51210	0.5331127277877139	0.53236	0.314831118833	0.33766	0.423758924007	0.28354	T	0.104164	0.41349	T	-0.507096	0.00521	T	-0.497599	0.22596	T	0.0776664128441218	0.09685	T	0.937106	0.76374	D	0.26929975	0.50002	0.18796098	0.42059	0.2508951	0.48094	0.17294744	0.39585	-5.439	0.46795	T	0.07789149179782047	0.03692	0.232	0.60215	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.568735	0.20088	14.58	0.9835693449590488	0.40608	0.56688	0.30182	D	AEFBI	0.372702	0.45825	N	0.0392534542171289	0.43650	2.653752	0.0770155434045908	0.43394	2.642142	0.967044531636928	0.28948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	3.93	0.44666	0.482000	0.21985	1.617000	0.27666	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.142000	0.20019	0.2567:0.6573:0.0:0.086	6.549	0.21622	673	0.60677	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	825.33	45	chr7	50504057	.	C	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=710;ExcessHet=0;FS=6.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr7	51083133	51083133	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon8:c.G1192A:p.D398N,COBL:NM_001346441:exon8:c.G1192A:p.D398N	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00923981256351	.	0.00139776	0.0026	0	0	0	0.0019	0.0043	0	0.0023	0.0006145	95	154602	rs200114771	0.0077	0.0036	0.0080	0.0075	0.0223	0.0075	0.0074	0.0180	0.0164	0.0009	0.0044	0.0040	0.0023	0.0068	0.0223	0.0088	0.0080	0.0031	0.0027	0.0024	0.0026	0.0027	0.0052	0.0024	0.0023	0.0040	0.0036	0.0007	0	0.0052	0.0007	0.0013	0.0035	0.0105	0.0034	0.0028	0.0026	0.345	0.12511	T	0.064	0.48855	T	0.944	0.53183	P	0.243	0.38752	B	.	.	.	.	1	0.29769	N	.	.	.	2.5	0.14408	T	-0.76	0.21215	N	0.196	0.21580	-1.0282	0.21038	T	0.109	0.39344	T	8	0.004123658	0.00081	T	0.00924	0.24272	T	0.058	0.16647	.	.	0.4787715885	0.47508	0.09131652824619568	0.09064	.	.	.	.	.	0.050127	0.28506	T	-0.621179	0.00108	T	-0.665201	0.07919	T	0.0164313470671056	0.00409	T	0.742326	0.36163	T	.	.	.	.	.	.	.	.	-5.461	0.41502	T	.	.	0.108	0.20469	B	.;.;.	.;.;.	2.699390	0.35258	19.85	0.99600456848785202	0.74160	0.53878	0.29478	D	AEFDBI	0.158602	0.28428	N	-0.229173433894328	0.31940	1.796184	-0.297510049414732	0.28180	1.569171	0.990705556903588	0.32242	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.56	3.77	0.42499	4.016000	0.56871	4.687000	0.44347	0.549000	0.26987	0.995000	0.38783	0.998000	0.33993	0.496000	0.28927	0.0:0.851:0.0:0.149	11.058	0.47147	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1891.71	35	chr7	51083133	.	C	T	1891.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.209;DP=847;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.655;SOR=0.799	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	17	0	1	1
chr7	55955030	55955030	C	G	exonic	MRPS17	.	nonsynonymous SNV	MRPS17:NM_015969:exon3:c.C245G:p.A82G	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00758421461764	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs756797775	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0005	7.08e-06	5.79e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.093e-06	8.279e-05	0	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.021	0.49117	D	0.22	0.35205	T	0.936	0.52359	P	0.685	0.53610	P	0.000396	0.44960	D	0.097504	0.999394	0.46900	D	2.61	0.76335	M	5.5	0.00921	T	-0.73	0.60348	N	0.364	0.40565	-0.9226	0.45196	T	0.011	0.03949	T	10	0.32668382	0.49962	T	0.007584	0.20113	T	0.160	0.41473	0.492	0.57890	0.323442020237	0.31956	0.39072692415985605	0.38987	0.0662238468404	0.07386	0.470408380032	0.34736	T	0.062481	0.31927	T	-0.117603	0.33515	T	-0.391219	0.34408	T	0.825861752033234	0.48212	D	0.90471	0.66491	D	0.29764286	0.52692	0.22173487	0.46994	0.29764286	0.52692	0.22173487	0.46993	-7.706	0.59049	D	.	.	0.328	0.55053	B	.;.;.	.;.;.	3.797014	0.54692	23.5	0.99787916153585476	0.87396	0.93450	0.58249	D	AEFDBCI	0.664406	0.63358	D	0.61070299995123	0.73852	6.03407	0.57343832739702	0.73041	5.906132	0.999965373914011	0.48965	0.744818	0.98587	0	0.732433	0.95613	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	3.94	0.44807	4.514000	0.60201	3.803000	0.39877	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.955000	0.50612	0.0:0.919:0.0:0.081	12.646	0.56095	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	945.33	37	chr7	55955030	.	C	G	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=725;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.064;SOR=0.555	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1278	18	0	1	0
chr7	57120274	57120274	A	G	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.T1141C:p.Y381H,ZNF479:NM_033273:exon5:c.T1141C:p.Y381H	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00131292631829	.	0.000798722	0.0005	0.0001	0	0	0	0	0	0.0032	0.0001537	4	26028	rs564686669	0.0002	0.0002	9.16e-05	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	2.531e-05	0	0.0002	0	0.0001	0.0033	0.0001	0.0001	9.045e-05	0.0002	0.0046	9.803e-05	8.309e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.019	0.50132	D	0.019	0.59159	D	0.998	0.73220	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	1.02	0.25474	L	1.99	0.21666	T	-4.61	0.79060	D	0.221	0.33469	-1.0364	0.18419	T	0.057	0.23942	T	9	0.007793814	0.00177	T	0.001313	0.01834	T	0.067	0.19503	0.582	0.70861	0.301122078929	0.29733	0.033209014860681334	0.03268	2.23657706264	0.95980	0.444807589054	0.31235	T	0.072919	0.45159	T	-0.557001	0.00264	T	-0.575606	0.14939	T	0.167784190614551	0.18428	T	0.151485	0.01286	T	0.030823177	0.02813	0.0753313	0.16573	0.030823177	0.02812	0.0753313	0.16572	-8.092	0.61696	D	.	.	0.525	0.65859	A	.;.;.	.;.;.	2.352009	0.30154	18.35	0.98493767992227832	0.42132	0.03828	0.09172	N	AEFBHCI	0.029174	0.02706	N	-0.541363252596485	0.20755	1.096492	-0.833746912484641	0.13678	0.7109051	1.53394777891058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.946	-1.42	0.08446	2.867000	0.48126	.	.	0.223000	0.18093	0.048000	0.21332	0.000000	0.08366	0.009000	0.08673	0.6801:0.0:0.0:0.3198	3.82	0.08346	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001594	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	716.33	33	chr7	57120274	.	A	G	716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=789;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.15;MQRankSum=-4.328;QD=10.38;ReadPosRankSum=-0.803;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr7	57121147	57121147	G	A	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.C268T:p.R90C,ZNF479:NM_033273:exon5:c.C268T:p.R90C	.	483	1038	1	0	0	1	0.000481464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00439297	0.0012	0.0137	0.0010	0.0002	0	7.728e-05	0.0022	0	0.0009989	26	26028	rs182993647	0.0004	0.0004	0.0005	0.0004	0.0141	0.0004	0.0004	0.0130	0.0126	0.0141	0.0016	0	5.04e-05	0	0.0002	4.407e-05	0.0009	6.959e-05	0.0044	0.0044	0.0048	0.0040	0.0141	0.0041	0.0040	0.0132	0.0128	0.0141	0	0.0044	0	0	0	0	0.0001	0.0038	0	1.0	0.00964	T	0.239	0.24477	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.38	0.00079	N	3.25	0.06762	T	8.97	0.00000	N	0.077	0.10056	-0.9259	0.44730	T	0.003	0.00864	T	9	0.0064363778	0.00146	T	.	.	.	0.038	0.09825	.	.	0.110078149338	0.10416	0.02317450272037146	0.02269	1.16391528366	0.79565	0.387476801872	0.23314	T	0.002098	0.03111	T	-0.795781	0.00008	T	-0.904184	0.00474	T	0.00785624774531025	0.00092	T	0.116288	0.00910	T	0.0629589	0.13206	0.040598053	0.04426	0.0629589	0.13205	0.040598053	0.04426	1.66	0.00071	T	.	.	0.076	0.08224	B	.;.;.	.;.;.	0.143985	0.05374	1.855	0.053382169323856074	0.00010	0.00028	0.00265	N	AEFBI	0.013795	0.00196	N	-1.81444514302667	0.00511	0.0219818	-1.84487087607681	0.00626	0.02782346	3.43951926742556E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-1.503000	0.02381	.	.	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3074:0.2392:0.2151:0.2384	0.075	0.00023	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1409.33	33	chr7	57121147	.	G	A	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.866;DP=897;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.77;MQRankSum=-1.054;QD=12.15;ReadPosRankSum=-0.733;SOR=0.813	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr7	57126056	57126056	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.A224G:p.Q75R,ZNF479:NM_033273:exon4:c.A224G:p.Q75R	.	452	1018	47	5	0	57	0.0272336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0055	0.00339457	0.0058	0.0017	0.0068	0.0002	0.0021	0.0068	0.0114	0.0077	0.0049094	759	154602	rs199932939	0.0053	0.0053	0.0050	0.0056	0.0246	0.0052	0.0051	0.0213	0.0201	0.0016	0.0076	0.0126	0	0.0023	0.0246	0.0049	0.0072	0.0091	0.0048	0.0048	0.0044	0.0053	0.0085	0.0045	0.0044	0.0064	0.0059	0.0015	0	0.0055	0.0101	0.0002	0.0035	0.0238	0.0066	0.0104	0.0085	0.054	0.38633	T	0.122	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	3.31	0.06291	T	-0.77	0.21429	N	0.138	0.13626	-0.9389	0.42790	T	0.005	0.01578	T	9	0.005461186	0.00120	T	.	.	.	0.018	0.03083	.	.	0.119812018005	0.11559	0.015442727878878133	0.01500	0.937583356376	0.72088	0.343715667725	0.16993	T	0.006166	0.16623	T	-0.698216	0.00037	T	-0.770166	0.02763	T	0.00105148513774967	0.00010	T	0.0993901	0.01432	T	0.017931126	0.00316	0.03834946	0.03684	0.017931126	0.00316	0.03834946	0.03684	-0.546	0.00612	T	.	.	0.070	0.05668	B	.;.;.	.;.;.	0.618681	0.09873	6.632	0.7000091064038827	0.09153	0.00021	0.00226	N	AEFI	0.013016	0.00159	N	-1.51131193355416	0.01775	0.0777514	-1.55381002604836	0.01950	0.08900711	1.12376233501182E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.203	0.12555	0.387000	0.20445	.	.	-0.978000	0.01909	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.6961:0.0:0.3039	3.929	0.08776	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032770	0.070707	0.023098	0.020492	0.000000	0.060345	0.033537	0.034091	0.02632	541.33	34	chr7	57126056	.	T	C	541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=715;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.98;MQRankSum=2.37;QD=6.77;ReadPosRankSum=0.418;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	18	0	1	0
chr7	57469494	57469494	G	A	exonic	ZNF716	.	nonsynonymous SNV	ZNF716:NM_001159279:exon4:c.G1033A:p.V345I	.	419	1096	7	0	0	7	0.00318327	.	.	.	2364921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.000390372232326	0.0004	.	0.0006	0.0001	0.0008	0	0	0.0008	0	0.0004	0.0005045	78	154602	rs201449041	0.0004	0.0004	0.0004	0.0004	0.0035	0.0004	0.0004	0.0023	0.0019	0.0002	0.0009	0.0033	0	1.874e-05	0.0035	0.0004	0.0009	0.0002	0.0005	0.0012	0.0007	0.0004	0.0007	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0007	0.0062	0	0.0001	0	0.0004	0.0031	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.115	0.28702	L	3.07	0.08547	T	0.65	0.02332	N	0.025	0.00485	-0.9442	0.41944	T	0.008	0.02801	T	9	0.00836131	0.00190	T	3.9E-4	0.00065	T	0.025	0.05312	.	.	0.0401082797425	0.02173	0.006849437121360243	0.00651	0.0092463439996	0.00840	0.446093469858	0.31411	T	8.05E-4	0.00390	T	-0.677689	0.00049	T	-0.819034	0.01472	T	0.00192285653013493	0.00020	T	0.0879912	0.00649	T	0.014780247	0.00108	0.057527654	0.10473	0.014780247	0.00107	0.057527654	0.10472	0.582	0.00197	T	.	.	0.070	0.03301	B	.	.	-0.840207	0.01031	0.043	0.088534577056436983	0.00078	0.00001	0.00044	N	AEFBHCI	0.007580	0.00028	N	-2.28953624324688	0.00048	0.002062267	-2.33524870797769	0.00055	0.002429012	3.10240884095701E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.134000	0.10415	.	.	-2.301000	0.00322	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7106:0.0:0.2894:0.0	5.362	0.15394	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007945	0.010101	0.012262	0.008197	0.000000	0.000000	0.006098	0.000000	0.02632	1458.33	112	chr7	57469494	.	G	A	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=1741;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.885;SOR=0.573	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	18	0	1	0
chr7	64266468	64266468	C	T	exonic	ZNF679	.	nonsynonymous SNV	ZNF679:NM_153363:exon5:c.C835T:p.R279C	.	473	1046	3	0	0	3	0.00143198	.	.	.	3354707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000966326039745	0.0004	0.000199681	0.0011	0.0002	0.0015	0.0001	0	0.0014	0	0.0010	0.0009573	148	154602	rs201186568	0.0007	0.0007	0.0007	0.0008	0.0089	0.0007	0.0007	0.0069	0.0062	0.0001	0.0011	0.0105	2.523e-05	0.0002	0.0089	0.0005	0.0011	0.0009	0.0008	0.0008	0.0009	0.0007	0.0011	0.0007	0.0006	0.0007	0.0007	9.935e-05	0	0.0011	0.0069	0	0.0002	0.0037	0.0009	0.0024	0.0009	0.201	0.20306	T	0.247	0.23914	T	0.02	0.18235	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.985	0.53793	M	3.18	0.07478	T	-4.58	0.78807	D	0.083	0.05929	-0.9841	0.34045	T	0.020	0.08593	T	9	0.0076338053	0.00173	T	9.66E-4	0.00980	T	0.020	0.03691	.	.	0.383590876969	0.37966	0.013608247064917455	0.01318	0.00347536285003	0.00296	0.298056095839	0.10113	T	0.016076	0.13357	T	-0.609773	0.00127	T	-0.694225	0.06148	T	0.019466976296745	0.00650	T	0.381362	0.09225	T	0.09688403	0.22827	0.086845316	0.20148	0.09688403	0.22827	0.086845316	0.20148	-2.506	0.05822	T	.	.	0.268	0.50185	B	.;.	.;.	0.662917	0.10314	7.044	0.77140727996853165	0.11753	0.01142	0.04139	N	AEFBHCI	0.034042	0.04148	N	-1.00804558711832	0.08436	0.3955358	-1.13898375157503	0.06967	0.3372035	4.63713702724381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.81	0.81	0.17873	-0.935000	0.04059	.	.	-1.820000	0.00602	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6516:0.0:0.3484	3.244	0.06390	851	0.35303	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004237	0.000000	0.006793	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	1569.33	35	chr7	64266468	.	C	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=959;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.804;SOR=0.618	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr7	64266487	64266570	ACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	-	exonic	ZNF679	.	nonframeshift deletion	ZNF679:NM_153363:exon5:c.854_937del:p.S306_F333del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0	0	0	0	3.039e-05	0	0.0002	.	.	.	.	5.885e-05	5.951e-05	3.813e-05	7.978e-05	0.0005	4.878e-05	4.497e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0	2.968e-05	9.938e-05	0.0005	9.874e-05	9.853e-05	0.0001	8.081e-05	0.0006	6.017e-05	4.888e-05	0.0002	9.044e-05	0.0002	0	0	0	0	0	0	4.417e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1688.29	35	chr7	64266486	.	AACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	A	1688.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=1038;ExcessHet=0;FS=3.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-2.835;QD=10.49;ReadPosRankSum=-1.072;SOR=0.744	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr7	64348140	64348140	G	A	exonic	ZNF736	.	nonsynonymous SNV	ZNF736:NM_001170905:exon4:c.G277A:p.D93N	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000825004832707	.	0.00239617	0.0027	0.0012	0.0036	0	0.0006	0.0055	0	0.0008	0.0013066	202	154602	rs145262202	0.0063	0.0060	0.0066	0.0060	0.0076	0.0062	0.0062	0.0075	0.0074	0.0008	0.0028	0.0012	0	0.0013	0.0011	0.0076	0.0057	0.0009	0.0036	0.0036	0.0040	0.0031	0.0063	0.0033	0.0032	0.0058	0.0056	0.0010	0	0.0029	0.0020	0	0.0009	0	0.0063	0.0033	0.0008	0.081	0.33418	T	0.197	0.27855	T	0.98	0.59353	D	0.811	0.58656	P	.	.	.	.	0.999705	0.20638	N	1.695	0.43389	L	3.58	0.04594	T	-3.41	0.67129	D	0.057	0.03069	-1.0110	0.26604	T	0.016	0.06569	T	9	0.0052132905	0.00113	T	8.25E-4	0.00670	T	0.021	0.04004	.	.	0.146414634003	0.14194	0.03673657550673344	0.03620	0.268492348923	0.29362	0.28343963623	0.07977	T	0.018795	0.15087	T	-0.720445	0.00027	T	-0.80139	0.01868	T	0.0344921122650999	0.02721	T	0.743326	0.36245	T	0.12180964	0.28636	0.1075897	0.25902	0.12180964	0.28636	0.1075897	0.25901	-6.272	0.48500	T	.	.	0.089	0.12371	B	.;.	.;.	1.344829	0.17516	13.21	0.99750897619059486	0.84228	0.00134	0.00826	N	AEFBCI	0.024460	0.01518	N	-0.292662432977171	0.29430	1.632006	-0.527122523670952	0.21418	1.158527	2.61353655978744E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.225	0.225	0.14598	-1.177000	0.03206	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.467000	0.28274	0.4409:0.0:0.5591:0.0	2.694	0.04812	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001577	0.000000	0.000000	0.000000	0.000000	0.000000	0.006410	0.000000	0.02632	1129.33	33	chr7	64348140	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.386;DP=721;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.4;SOR=0.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr7	64348849	64348849	G	A	exonic	ZNF736	.	nonsynonymous SNV	ZNF736:NM_001170905:exon4:c.G986A:p.S329N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000795909591681	0.0035	0.00159744	0.0037	0.0014	0.0022	0	0.0010	0.0060	0.0018	0.0003	0.002335	361	154602	rs182807224	0.0040	0.0040	0.0042	0.0038	0.0049	0.0039	0.0039	0.0048	0.0048	0.0005	0.0018	0.0008	0	0.0007	0.0007	0.0049	0.0038	0.0004	0.0022	0.0022	0.0026	0.0019	0.0038	0.0020	0.0020	0.0034	0.0033	0.0007	0	0.0026	0.0003	0	0.0004	0	0.0038	0.0025	0.0007	0.118	0.28148	T	0.137	0.33894	T	0.611	0.39680	P	0.257	0.39298	B	.	.	.	.	1	0.08975	N	0.745	0.18958	N	2.4	0.15608	T	-0.68	0.19509	N	0.026	0.00618	-1.0162	0.24948	T	0.016	0.06377	T	9	0.0042527914	0.00085	T	7.96E-4	0.00608	T	0.021	0.04004	.	.	0.0716867268079	0.06686	0.009844995164025828	0.00946	0.117771484121	0.13261	0.262423992157	0.05182	T	5.64E-4	0.00225	T	-0.71769	0.00029	T	-0.799963	0.01903	T	0.00971085772933082	0.00127	T	0.060194	0.00438	T	0.037121195	0.04698	0.056046966	0.09943	0.037121195	0.04698	0.056046966	0.09942	-4.199	0.26737	T	.	.	0.199	0.42141	B	.;.	.;.	0.199611	0.05846	2.287	0.70709505244704862	0.09385	0.00034	0.00302	N	AEFBHCI	0.019719	0.00711	N	-1.51851962936358	0.01727	0.07564088	-1.68215829661553	0.01218	0.05486911	0.00116122433417423	0.08293	0.719381	0.83141	0	0.723133	0.82719	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.645000	0.05506	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.810000	0.38174	0.0:0.2041:0.4558:0.3401	3.860	0.08497	840	0.37365	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001093	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1188.33	33	chr7	64348849	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.275;DP=731;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.71;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr7	64543719	64543719	C	G	exonic	ZNF680	.	nonsynonymous SNV	ZNF680:NM_001130022:exon3:c.G241C:p.A81P,ZNF680:NM_178558:exon3:c.G241C:p.A81P	.	440	1069	13	0	0	13	0.0060437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00171976340089	0.0034	0.00119808	0.0035	0.0008	0.0025	0	0.0015	0.0051	0.0022	0.0021	0.0033311	515	154602	rs112490324	0.0039	0.0039	0.0039	0.0040	0.0078	0.0038	0.0038	0.0060	0.0054	0.0011	0.0029	0.0086	0	0.0017	0.0078	0.0043	0.0040	0.0019	0.0032	0.0032	0.0033	0.0031	0.0049	0.0030	0.0029	0.0045	0.0043	0.0006	0	0.0045	0.0072	0	0.0015	0.0136	0.0049	0.0033	0.0019	0.017	0.51248	D	0.043	0.55341	D	0.838	0.46404	P	0.278	0.40236	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.42	0.05507	T	-2.61	0.67477	D	0.17	0.23253	-1.0476	0.15073	T	0.031	0.13374	T	8	0.005279571	0.00115	T	0.00172	0.02882	T	0.038	0.09825	.	.	0.322786055943	0.31880	0.0602508922735215	0.05965	0.124561853899	0.14028	0.35516256094	0.18680	T	0.020367	0.16051	T	-0.58247	0.00186	T	-0.609598	0.12017	T	0.0196497537264565	0.00668	T	0.586041	0.28093	T	0.45372492	0.64277	0.5408741	0.73465	0.45372492	0.64278	0.5408741	0.73466	-8.615	0.65189	D	.	.	0.104	0.28778	B	.;.	.;.	1.615177	0.20636	14.84	0.99313782317668886	0.59092	0.12261	0.17160	N	AEFBI	0.077074	0.15521	N	-0.318439429010899	0.28449	1.56917	-0.547312338385765	0.20878	1.126815	0.00212608985284233	0.09174	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	0.665	0.665	0.17066	0.003000	0.12984	.	.	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.628000	0.32104	.	.	.	809	0.43032	Krueppel-associated box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.008152	0.000000	0.100000	0.008621	0.006098	0.000000	0.02632	2196.33	37	chr7	64543719	.	C	G	2196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.348;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.195;SOR=0.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1357	18	0	1	0
chr7	65399513	65399513	A	G	exonic	ZNF92	.	nonsynonymous SNV	ZNF92:NM_001287534:exon2:c.A1171G:p.T391A,ZNF92:NM_001287532:exon3:c.A1303G:p.T435A,ZNF92:NM_007139:exon3:c.A1192G:p.T398A,ZNF92:NM_152626:exon4:c.A1399G:p.T467A,ZNF92:NM_001287533:exon5:c.A1171G:p.T391A	.	417	1101	4	0	0	4	0.00181324	.	.	.	3547022	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0015	0.000798722	0.0040	0.0001	0.0003	0	0.0255	0.0044	0.0124	0.0005	0.0033958	525	154602	rs143444213	0.0027	0.0027	0.0028	0.0026	0.0023	0.0026	0.0026	0.0023	0.0022	0.0003	0.0004	0.0006	0	0.0213	0.0014	0.0023	0.0025	0.0003	0.0037	0.0037	0.0027	0.0047	0.0042	0.0034	0.0033	0.0038	0.0037	0.0001	0	0.0006	0	0	0.0233	0	0.0042	0.0047	0.0006	0.386	0.13522	T	0.51	0.10821	T	0.036	0.20732	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.32	0.10341	N	3.21	0.07125	T	-1.81	0.44852	N	0.05	0.03841	-0.9264	0.44659	T	0.008	0.02679	T	9	0.0028787255	0.00046	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.008256368628338591	0.00789	0.293728836784	0.31792	0.28295096755	0.07907	T	0.047234	0.27661	T	-0.75349	0.00017	T	-0.847151	0.00997	T	0.0078285389074692	0.00092	T	0.822518	0.48242	T	0.029111505	0.02355	0.0370881	0.03288	0.029111505	0.02354	0.0370881	0.03287	-5.411	0.42692	T	.	.	0.085	0.16538	B	.;.;.;.	.;.;.;.	-0.042155	0.03999	0.910	0.66964323872245202	0.08214	0.00326	0.01707	N	AEFGBI	0.017628	0.00475	N	-1.32167369410029	0.03428	0.1531082	-1.41002685235255	0.03151	0.1464202	0.99622375498736	0.34605	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.418	0.418	0.15647	-5.883000	0.00112	-20.000000	0.00162	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.9999:0.0:1.0E-4:0.0	5.143	0.14300	413	0.81939	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001589	0.000000	0.000000	0.004098	0.000000	0.000000	0.003049	0.003817	0.02632	1968.33	35	chr7	65399513	.	A	G	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.937;DP=833;ExcessHet=0;FS=4.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=-1.126;QD=17.12;ReadPosRankSum=0.269;SOR=1.057	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	18	0	1	0
chr7	66152274	66152274	A	G	exonic	CRCP	.	nonsynonymous SNV	CRCP:NM_001040648:exon3:c.A133G:p.S45G,CRCP:NM_001040647:exon5:c.A265G:p.S89G,CRCP:NM_001142414:exon5:c.A343G:p.S115G,CRCP:NM_014478:exon6:c.A364G:p.S122G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0042	0.00359425	0.0014	0.0128	0.0020	0	0	0.0001	0	0.0002	0.0013066	202	154602	rs147755294	0.0005	0.0005	0.0006	0.0005	0.0144	0.0005	0.0005	0.0133	0.0129	0.0144	0.0018	0	0	0	0.0017	0.0001	0.0009	9.275e-05	0.0040	0.0040	0.0041	0.0040	0.0136	0.0038	0.0037	0.0127	0.0123	0.0136	0	0.0022	0	0	0	0	0.0002	0.0014	0	0.086	0.34982	T	0.008	0.67890	D	0.149	0.29618	B	0.122	0.32387	B	0.000463	0.44119	D	0.300219	0.959686	0.38140	D	1.385	0.34509	L	.	.	.	-2.15	0.56466	N	0.272	0.35301	-0.9229	0.45155	T	0.106	0.38709	T	8	0.0075749755	0.00172	T	.	.	.	0.060	0.17295	.	.	0.0884992946249	0.08302	0.1751877742518727	0.17437	0.308637158166	0.33177	0.555451989174	0.46626	T	0.045975	0.27284	T	-0.420357	0.01701	T	-0.364914	0.37482	T	0.0437102556112618	0.04368	T	0.817118	0.47377	T	0.08186406	0.18832	0.08856646	0.20659	0.08186406	0.18832	0.08856646	0.20658	-6.653	0.54508	T	.	.	0.064	0.11366	B	.;.;.;.;.	.;.;.;.;.	2.782182	0.36545	20.3	0.9935641518592816	0.60820	0.79759	0.39586	D	ALL	0.270832	0.38682	N	0.101861196864354	0.46550	2.893581	0.205063262398794	0.50128	3.208136	0.999999999813563	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.27	5.27	0.73797	3.748000	0.54860	7.502000	0.59501	0.756000	0.94297	0.985000	0.35982	1.000000	0.68203	0.724000	0.34901	1.0:0.0:0.0:0.0	11.518	0.49787	500	0.76024	.;RNA polymerase Rpb4/RPC9, core;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1317.33	38	chr7	66152274	.	A	G	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=789;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.692;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	18	0	1	0
chr7	66771977	66771977	C	T	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367744:exon2:c.C13T:p.R5W,RABGEF1:NM_001367743:exon3:c.C13T:p.R5W	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.442e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs765828930	3.045e-05	3.42e-05	1.928e-05	4.173e-05	0.0003	2.308e-05	2.056e-05	0.0002	0.0001	3.066e-05	0	0	2.623e-05	0	0.0002	1.63e-05	1.675e-05	0.0003	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000597	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	33	chr7	66771977	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=736;ExcessHet=0;FS=6.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.048;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr7	66809044	66809044	G	C	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367749:exon5:c.G615C:p.K205N,RABGEF1:NM_001367750:exon6:c.G615C:p.K205N,RABGEF1:NM_001367753:exon7:c.G987C:p.K329N,RABGEF1:NM_001367722:exon8:c.G660C:p.K220N,RABGEF1:NM_001367745:exon8:c.G738C:p.K246N,RABGEF1:NM_001367747:exon8:c.G738C:p.K246N,RABGEF1:NM_001367748:exon8:c.G738C:p.K246N,RABGEF1:NM_001367756:exon8:c.G1005C:p.K335N,RABGEF1:NM_001287061:exon9:c.G1278C:p.K426N,RABGEF1:NM_001367723:exon9:c.G660C:p.K220N,RABGEF1:NM_001367724:exon9:c.G660C:p.K220N,RABGEF1:NM_001367728:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367729:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367734:exon9:c.G1236C:p.K412N,RABGEF1:NM_001367739:exon9:c.G1239C:p.K413N,RABGEF1:NM_014504:exon9:c.G1236C:p.K412N,RABGEF1:NM_001287060:exon10:c.G660C:p.K220N,RABGEF1:NM_001287062:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367730:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367733:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367736:exon10:c.G1236C:p.K412N,RABGEF1:NM_001367737:exon10:c.G1239C:p.K413N,RABGEF1:NM_001367738:exon10:c.G1239C:p.K413N,RABGEF1:NM_001367741:exon10:c.G1353C:p.K451N,RABGEF1:NM_001367742:exon10:c.G1353C:p.K451N,RABGEF1:NM_001367744:exon10:c.G1308C:p.K436N,RABGEF1:NM_001367751:exon10:c.G615C:p.K205N,RABGEF1:NM_001367725:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367731:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367732:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367735:exon11:c.G1236C:p.K412N,RABGEF1:NM_001367740:exon11:c.G1239C:p.K413N,RABGEF1:NM_001367743:exon11:c.G1308C:p.K436N,RABGEF1:NM_001367746:exon11:c.G738C:p.K246N,RABGEF1:NM_001367726:exon12:c.G1236C:p.K412N,RABGEF1:NM_001367727:exon12:c.G1236C:p.K412N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0083824965112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.261	0.26386	T	.	.	.	.	.	.	0.000043	0.53742	D	0.219802	0.999905	0.50806	D	.	.	.	1.62	0.45636	T	-1.7	0.40468	N	0.24	0.37717	-1.0965	0.04542	T	0.066	0.27052	T	10	0.15482387	0.29195	T	0.008382	0.22181	T	0.051	0.14325	.	.	0.579757117833	0.57647	0.34612894706422614	0.34526	0.252138644839	0.27782	0.704809606075	0.67841	T	0.027056	0.19894	T	-0.21321	0.18929	T	-0.544038	0.17903	T	0.981622695922852	0.74018	D	0.860114	0.56064	D	.	.	.	.	.	.	.	.	-4.154	0.26082	T	.	.	0.223	0.49314	B	.;.;.;.;.;.	.;.;.;.;.;.	3.918768	0.57202	23.8	0.99712591131579675	0.81423	0.81753	0.41094	D	AEFDBI	0.135357	0.25567	N	-0.0436725433809977	0.39885	2.359478	0.131847970836641	0.46186	2.868828	0.0177751912186168	0.12988	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	2.035000	0.40776	6.666000	0.56263	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2349:0.0:0.7651:0.0	8.030	0.29622	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1892.33	35	chr7	66809044	.	G	C	1892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.332;DP=757;ExcessHet=0;FS=5.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.737;SOR=1.204	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr7	67238440	67238440	G	A	exonic	TYW1	.	nonsynonymous SNV	TYW1:NM_018264:exon16:c.G2110A:p.A704T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0194099554828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.181324	0.17094	U	0.464265	0.999999	0.58761	D	3.605	0.93784	H	1.32	0.35219	T	-2.97	0.61865	D	0.678	0.68516	-0.2912	0.75232	T	0.292	0.66412	T	10	0.5259752	0.62911	D	0.01941	0.41765	T	0.398	0.71242	0.551	0.66716	0.686686103294	0.68400	0.7822082255876122	0.78171	1.0917408021	0.77454	0.787698030472	0.80092	T	0.354994	0.72207	T	0.104609	0.64787	D	-0.0875127	0.64349	T	0.987627506256104	0.78084	D	0.973003	0.93605	D	0.29153946	0.52135	0.40460315	0.64883	0.29153946	0.52135	0.40460315	0.64883	-9.53	0.71045	D	.	.	0.754	0.75217	P	.;.	.;.	5.062277	0.84388	28.3	0.99908086836329224	0.97801	0.95246	0.63981	D	AEFDBI	0.855968	0.77315	D	0.796820479352317	0.85907	8.718432	0.675665311826357	0.80534	7.32049	0.999520327259146	0.40175	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.74	3.74	0.42108	8.161000	0.89606	11.134000	0.86880	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	13.123	0.58755	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1745.33	33	chr7	67238440	.	G	A	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.248;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.17;MQRankSum=0.148;QD=13.02;ReadPosRankSum=-1.441;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr7	67279892	67279894	GAG	-	exonic	SPDYE21	.	nonframeshift deletion	SPDYE21:NM_001382715:exon2:c.235_237del:p.E81del	.	445	1072	4	1	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0028431	74	26028	rs555977902	0.0077	0.0076	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0010	0.0048	0.0547	0	0.0006	0.0038	0.0079	0.0084	0.0015	0.0059	0.0058	0.0060	0.0057	0.0076	0.0055	0.0054	0.0070	0.0068	0.0014	0	0.0072	0.0505	0.0002	9.502e-05	0.0068	0.0076	0.0087	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5856.39	36	chr7	67279891	.	TGAG	T	5856.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.472;DP=834;ExcessHet=0.7564;FS=5.489;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=49.99;MQRankSum=4.01;QD=20.77;ReadPosRankSum=-0.628;SOR=0.796	GT:AD:DP:GQ:PL	0/1:62,39:101:99:1451,0,2486	15	0	4	0
chr7	70763089	70763089	A	G	exonic	AUTS2	.	nonsynonymous SNV	AUTS2:NM_001127231:exon7:c.A962G:p.D321G,AUTS2:NM_015570:exon7:c.A962G:p.D321G	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2189562	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0283061695713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307377989	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.10623	T	0.4	0.15406	T	0.0	0.02946	B	0.0	0.01387	B	0.952111	0.08280	N	0.978539	0.993442	0.23711	N	-0.755	0.01709	N	1.55	0.29866	T	0.55	0.02721	N	0.091	0.08366	-0.9939	0.31591	T	0.028	0.12103	T	9	0.0297018	0.01096	T	0.028306	0.51004	D	0.051	0.14325	0.15	0.05339	0.151262610727	0.14761	0.11853083278155094	0.11780	0.54485426869	0.51528	0.444116473198	0.31139	T	0.013089	0.11383	T	-0.262286	0.12634	T	-0.614532	0.11620	T	0.0229400366646267	0.01017	T	0.665033	0.28342	T	0.08557663	0.19857	0.046817563	0.06608	0.08557663	0.19857	0.046817563	0.06608	-2.493	0.05926	T	0.06368053332210206	0.01974	0.076	0.09191	B	.;.;.;.;.	.;.;.;.;.	0.771924	0.11419	8.028	0.72405151962412029	0.09962	0.05185	0.11006	N	AEFDBCI	0.032846	0.03785	N	-1.06699383899412	0.07258	0.3366261	-1.02919469248441	0.09146	0.4534325	0.999941167260172	0.47345	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.567892	0.33627	0	.	.	5.32	-0.0816	0.13035	0.109000	0.15252	1.665000	0.27922	0.756000	0.94297	0.003000	0.16062	0.998000	0.33993	0.408000	0.26961	0.543:0.0:0.3229:0.134	5.184	0.14500	955	0.09969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	40	chr7	70763089	.	A	G	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.289;DP=745;ExcessHet=0;FS=4.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.759;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr7	71421023	71421023	G	C	exonic	GALNT17	.	nonsynonymous SNV	GALNT17:NM_022479:exon5:c.G880C:p.G294R	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.188496176333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.27	0.59176	T	-6.82	0.92980	D	0.989	0.99670	0.365	0.88565	D	0.541	0.83061	D	10	0.93310344	0.92645	D	0.188496	0.86005	D	0.815	0.94046	0.76	0.88892	0.930323492244	0.92961	0.9627230353298919	0.96259	1.75436928323	0.91029	0.89225435257	0.95538	D	0.274811	0.64732	T	0.374598	0.88359	D	0.300308	0.88211	D	0.998434960842133	0.94140	D	0.983602	0.94423	D	0.83623946	0.86340	0.85349554	0.91739	0.83623946	0.86342	0.85349554	0.91739	-11.064	0.80008	D	.	.	0.997	0.96796	P	.;.	.;.	5.920096	0.94063	33	0.99940903831423489	0.99797	0.98832	0.87442	D	AEFBI	0.934155	0.92712	D	1.04058879586914	0.96863	15.24742	0.954445360698334	0.97536	16.29733	0.999999960652941	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.564000	0.93246	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.002	0.89122	940	0.13648	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	168	chr7	71421023	.	G	C	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.772;DP=885;ExcessHet=0;FS=1.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.784;SOR=0.532	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,118,1525	18	0	1	0
chr7	71710861	71710861	G	A	exonic	GALNT17	.	nonsynonymous SNV	GALNT17:NM_022479:exon10:c.G1601A:p.R534Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2762175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00692179979794	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0003	0.0001164	18	154602	rs373377222	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0.0001	4.472e-05	0.0016	0	0	0.0019	3.148e-05	0.0003	0.0008	6.572e-05	6.567e-05	3.854e-05	9.419e-05	0.0004	3.517e-05	2.617e-05	7.307e-05	3.035e-05	2.413e-05	0	0	0.0009	0	0	0	5.88e-05	0	0.0004	0.447	0.09075	T	0.54	0.09760	T	0.489	0.36925	P	0.294	0.40804	B	0.000001	0.62929	D	0.098275	0.823443	0.34810	D	.	.	.	1.55	0.29866	T	0.55	0.02721	N	0.5	0.53269	-1.0082	0.27479	T	0.073	0.29547	T	10	0.049589813	0.04569	T	0.006922	0.18317	T	0.122	0.33800	.	.	0.68193771998	0.67923	0.5492776087138479	0.54853	0.727103475647	0.62551	0.599982917309	0.52902	T	0.026317	0.19500	T	-0.323857	0.06587	T	-0.375014	0.36305	T	0.056126944678988	0.06544	T	0.89491	0.63503	D	0.058864478	0.11895	0.061024264	0.11717	0.058864478	0.11895	0.061024264	0.11716	-3.516	0.16657	T	.	.	0.081	0.08033	B	.;.	.;.	4.153923	0.62332	24.4	0.99892758006959015	0.96666	0.94161	0.60297	D	AEFDI	0.542931	0.55846	D	0.247939606795627	0.53537	3.522145	0.349030035959633	0.58447	4.015448	0.999708136425655	0.41986	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	5.365000	0.65866	7.307000	0.58111	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0839:0.0:0.9161:0.0	11.119	0.47499	935	0.14827	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2511.81	35	chr7	71710861	.	G	A	2511.81	.	AC=2;AF=0.053;AN=38;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.01;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	1	0	0
chr7	72815472	72815472	T	C	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.A145G:p.T49A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0016	9.688e-05	0.0150	0	0.0008	6.005e-05	0.0011	0.0005	0.0014553	225	154602	rs184391894	0.0005	0.0005	0.0006	0.0004	0.0136	0.0005	0.0005	0.0127	0.0123	0.0003	0.0136	0	2.534e-05	0.0005	0.0007	2.881e-05	0.0004	0.0006	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0045	0.0041	0.0002	0	0.0054	0	0	0.0005	0	4.41e-05	0.0014	0.0002	.	.	.	0.545	0.09588	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.004697293	0.00099	T	.	.	.	.	.	.	.	0.107399877778	0.10242	0.3654886115886064	0.36462	.	.	0.250639557838	0.03835	T	0.019492	0.15519	T	-0.496641	0.00597	T	-0.47449	0.25033	T	.	.	.	0.438156	0.12052	T	0.06358137	0.13404	0.16258688	0.37759	0.06358137	0.13403	0.16258688	0.37758	-4.591	0.32058	T	.	.	0.064	0.03887	B	.;.;.	.;.;.	-0.627824	0.01498	0.094	0.67558660980193574	0.08391	0.02061	0.06149	N	AEFDBI	0.034355	0.04239	N	.	.	.	.	.	.	0.00452924939631249	0.10600	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.092715	0.02821	0	.	.	2.68	-3.03	0.05100	-1.050000	0.03621	-2.949000	0.03201	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.3622:0.1587:0.4791	5.025	0.13721	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2608.33	33	chr7	72815472	.	T	C	2608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.937;DP=820;ExcessHet=0;FS=3.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.8;MQRankSum=-4.706;QD=13.38;ReadPosRankSum=1.03;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	18	0	1	0
chr7	72826863	72826863	C	T	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon2:c.G127A:p.E43K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00738818	0.0033	0.0191	0.0156	0	0.0008	4.497e-05	0.0022	0.0005	0.0030853	477	154602	rs201638072	0.0010	0.0011	0.0012	0.0009	0.0200	0.0010	0.0010	0.0187	0.0182	0.0200	0.0145	0	2.522e-05	0.0005	0.0009	3.598e-05	0.0016	0.0006	0.0066	0.0066	0.0067	0.0066	0.0210	0.0063	0.0062	0.0198	0.0194	0.0210	0	0.0078	0	0	0.0005	0.0034	4.41e-05	0.0043	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.004748285	0.00100	T	.	.	.	.	.	.	.	0.302459207581	0.29844	0.5428715162759994	0.54212	.	.	0.32956585288	0.14869	T	0.010297	0.09311	T	-0.356574	0.04327	T	-0.269375	0.47882	T	.	.	.	0.353365	0.07952	T	0.03566698	0.04242	0.12613198	0.30381	0.03566698	0.04242	0.12613198	0.30380	-2.762	0.07839	T	.	.	0.064	0.13830	B	.;.;.	.;.;.	1.300225	0.17018	12.91	0.59324623606674343	0.06198	0.00193	0.01117	N	AEFBI	0.023712	0.01360	N	.	.	.	.	.	.	0.991762519133101	0.32601	0.162113	0.03585	0	0.079893	0.02001	0	0.175069	0.04249	0	0.088406	0.02457	0	.	.	2.62	2.62	0.30337	1.485000	0.35127	3.301000	0.37383	-0.272000	0.06708	0.995000	0.38783	1.000000	0.68203	0.015000	0.10482	0.0:0.1159:0.0:0.8841	7.081	0.24408	846	0.36215	.;Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000524	0.000000	0.001359	0.003676	0.000000	0.000000	0.000000	0.000000	0.02632	910.33	34	chr7	72826863	.	C	T	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=704;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-1.862;QD=12.14;ReadPosRankSum=-0.096;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1420	18	0	1	0
chr7	72864101	72864101	G	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.C674G:p.P225R	.	417	1103	1	0	1	2	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.00011	17	154602	rs182572291	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0037	0.0002	0.0044	0	2.519e-05	0.0003	0.0004	1.71e-05	0.0003	0.0004	0.0004	0.0006	0.0004	0.0005	0.0032	0.0004	0.0003	0.0025	0.0022	0.0002	0	0.0032	0	0	0.0005	0	2.942e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	41	chr7	72864101	.	G	C	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=814;ExcessHet=0;FS=11.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.99;MQRankSum=-8.833;QD=5.84;ReadPosRankSum=-4.049;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	18	0	1	0
chr7	72864120	72864120	A	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.T655G:p.C219G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs554867916	0.0003	0.0004	0.0003	0.0003	0.0052	0.0003	0.0002	0.0046	0.0044	0.0004	0.0052	0	0.0011	0.0004	0.0004	3.687e-05	0.0003	0.0005	0.0007	0.0008	0.0006	0.0007	0.0040	0.0006	0.0005	0.0032	0.0029	0.0005	0	0.0040	0	0.0006	0.0003	0	8.824e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	925.33	41	chr7	72864120	.	A	C	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.09;DP=824;ExcessHet=0;FS=14.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.18;MQRankSum=-7.429;QD=7.12;ReadPosRankSum=-3.955;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	18	0	1	0
chr7	72940853	72940853	T	C	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon11:c.T908C:p.I303T,POM121:NM_001257190:exon13:c.T908C:p.I303T	.	542	978	2	0	0	2	0.00102145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00145418170853	.	.	0.0006	0.0001	0.0050	0	0.0003	3.634e-05	0	0.0004	0.0003458	9	26028	rs1248996137	0.0006	0.0006	0.0006	0.0005	0.0122	0.0005	0.0005	0.0114	0.0110	0.0004	0.0122	0	7.681e-05	0.0005	0.0008	9.71e-05	0.0004	0.0008	0.0006	0.0007	0.0006	0.0006	0.0045	0.0005	0.0005	0.0036	0.0033	0.0002	0	0.0045	0	0	0.0003	0	0.0001	0.0015	0.0011	0.518	0.07307	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.429746	0.04697	N	1.407060	1	0.08975	N	-1.83	0.00276	N	3.43	0.05440	T	1.96	0.00461	N	0.044	0.02759	-0.9459	0.41665	T	0.006	0.02055	T	10	0.004666209	0.00098	T	0.001454	0.02189	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.10628538105815692	0.10558	.	.	0.417625248432	0.27511	T	0.002632	0.02024	T	-0.424262	0.01607	T	-0.8472	0.00996	T	0.00450448588551297	0.00048	T	0.0310969	0.00283	T	0.01604007	0.00172	0.026646793	0.00765	0.01604007	0.00172	0.026646793	0.00765	-1.651	0.02104	T	.	.	0.068	0.03849	B	.;.;.;.;.	.;.;.;.;.	0.255380	0.06345	2.805	0.34498242501759396	0.02113	0.00073	0.00509	N	AEFI	0.015122	0.00274	N	-1.47158998175939	0.02052	0.09023613	-1.4078455549889	0.03173	0.1474844	1.01464419932089E-5	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.1	1.09	0.19517	-0.298000	0.08302	1.354000	0.25830	-0.744000	0.03643	0.000000	0.06391	0.001000	0.17328	0.138000	0.19872	0.0:0.4964:0.2253:0.2783	3.259	0.06438	437	0.80299	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	318.33	31	chr7	72940853	.	T	C	318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.374;DP=469;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.57;MQRankSum=-2.896;QD=9.95;ReadPosRankSum=1.03;SOR=0.976	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	18	0	1	0
chr7	72942996	72942996	-	GCCCCG	exonic	POM121	.	nonframeshift insertion	POM121:NM_172020:exon12:c.2208_2209insGCCCCG:p.A739_A740insPA,POM121:NM_001257190:exon14:c.2208_2209insGCCCCG:p.A739_A740insPA,POM121:NM_001367610:exon14:c.2031_2032insGCCCCG:p.A680_A681insPA	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0	0.0005	0	0.0004	0	0	0.0002305	6	26028	rs782676174	0.0004	0.0006	0.0004	0.0004	0.0010	0.0004	0.0003	0.0007	0.0006	0.0005	9.011e-05	0.0071	0.0010	0	0.0003	0.0002	0.0007	0.0002	0.0006	0.0008	0.0006	0.0006	0.0014	0.0005	0.0005	0.0006	0.0005	0.0004	0	6.54e-05	0.0099	0.0014	0	0	0.0004	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1974.29	34	chr7	72942996	.	A	AGCCCCG	1974.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.992;DP=1031;ExcessHet=0;FS=4.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=0.19;QD=13.81;ReadPosRankSum=-0.902;SOR=0.57	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	18	0	1	0
chr7	73304007	73304007	C	T	exonic	NSUN5	.	nonsynonymous SNV	NSUN5:NM_001168347:exon8:c.G964A:p.G322R,NSUN5:NM_001168348:exon8:c.G850A:p.G284R,NSUN5:NM_018044:exon8:c.G964A:p.G322R,NSUN5:NM_148956:exon8:c.G964A:p.G322R	.	419	1102	1	0	0	1	0.000453515	.	.	.	2209927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00545376511657	.	0.000199681	3.32e-05	9.758e-05	0.0002	0	0	1.511e-05	0	0	3.23e-05	5	154602	.	3.968e-05	3.967e-05	3.403e-05	4.538e-05	0.0002	3.113e-05	2.847e-05	5.849e-05	3.758e-05	0.0001	6.709e-05	0	5.038e-05	0	0.0002	4.227e-05	0	0	1.313e-05	1.312e-05	2.57e-05	0	4.812e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	0	0	0	0	0	0.409	0.10588	T	0.413	0.14412	T	0.433	0.37766	B	0.187	0.36167	B	0.445433	0.12574	N	0.775886	0.78264	0.29315	N	-0.025	0.05070	N	3.03	0.08898	T	-0.92	0.24676	N	0.265	0.30004	-1.0549	0.13066	T	0.017	0.06998	T	10	0.071692586	0.10601	T	0.005454	0.14015	T	0.064	0.18567	0.424	0.46857	0.371718192555	0.36778	0.3488978476506601	0.34803	0.63320983695	0.57221	0.537895560265	0.44148	T	0.002907	0.02299	T	-0.435302	0.01378	T	-0.626389	0.10690	T	0.0367005243897438	0.03104	T	0.775222	0.40827	T	0.06708486	0.14496	0.07332465	0.15921	0.06708486	0.14495	0.07332465	0.15920	-5.854	0.45085	T	.	.	0.109	0.27998	B	.;.;.;.	.;.;.;.	1.993401	0.25328	16.72	0.80871326756949713	0.13409	0.23345	0.22046	N	AEFBCI	0.066472	0.13019	N	-0.598609221693546	0.18987	0.9902145	-0.648703500888558	0.18250	0.9740693	0.639871114025432	0.22043	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.28	3.4	0.38031	1.248000	0.32429	0.135000	0.15097	0.436000	0.21017	0.002000	0.15269	0.000000	0.08366	0.039000	0.14166	0.0:0.9096:0.0:0.0904	11.143	0.47637	888	0.27761	.;SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	37	chr7	73304007	.	C	T	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=901;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.11;MQRankSum=0.795;QD=13.86;ReadPosRankSum=-0.126;SOR=0.443	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	73318994	73318994	A	G	exonic	TRIM50	.	nonsynonymous SNV	TRIM50:NM_001281450:exon4:c.T554C:p.L185P,TRIM50:NM_001281451:exon4:c.T554C:p.L185P,TRIM50:NM_178125:exon4:c.T554C:p.L185P	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	.	.	0.0028	9.615e-05	8.639e-05	0.0230	0.0056	0.0012	0.0044	0.0008	.	.	.	rs200754952	0.0002	0.0005	0.0002	0.0002	0.0026	0.0002	0.0002	0.0022	0.0020	5.976e-05	2.236e-05	0.0004	0.0026	0.0008	0	0.0001	0.0006	0.0002	7.223e-05	0.0002	7.71e-05	6.714e-05	0.0002	3.969e-05	3.125e-05	7.866e-05	5.571e-05	0.0002	0	0	0	0.0002	0	0	4.41e-05	0	0	0.202	0.20230	T	0.147	0.32783	T	.	.	.	.	.	.	0.129525	0.18691	N	0.376195	0.999669	0.48141	D	.	.	.	-0.31	0.68030	T	-2.93	0.61284	D	0.828	0.82559	-0.8586	0.51363	T	0.163	0.49864	T	10	0.009555131	0.00215	T	.	.	.	0.396	0.71084	.	.	0.804951669259	0.80312	0.812810617731975	0.81237	0.425124690016	0.42928	0.620636701584	0.55819	T	0.203956	0.56258	T	-0.203013	0.20371	T	-0.0577095	0.66493	T	0.0127174444119566	0.00214	T	0.569643	0.20265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.81795	P	.;.	.;.	4.478454	0.69849	25.4	0.97607384869442138	0.34887	0.86597	0.45910	D	AEFDBHCI	0.717122	0.66874	D	-0.194801917771444	0.33350	1.891095	-0.0288273768065145	0.38419	2.26318	0.996616903762093	0.34869	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	2.213000	0.42483	10.719000	0.83620	0.580000	0.29708	0.744000	0.29069	1.000000	0.68203	0.984000	0.60418	0.7079:0.0:0.0:0.2921	8.259	0.30938	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	68.33	40	chr7	73318994	.	A	G	68.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.407;DP=903;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.99;MQRankSum=-14.66;QD=0.26;ReadPosRankSum=2.65;SOR=0.541	GT:AD:DP:GQ:PL	0/1:226,37:263:82:82,0,6511	18	0	1	0
chr7	73553630	73553630	G	A	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.C43T:p.R15C	.	550	970	2	0	0	2	0.00102987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs553418490	0.0012	2.863e-05	0	0.0022	0.0019	0.0002	8.613e-05	0.0003	0.0001	0	.	.	.	0	0.0019	0	0	0	8.564e-05	8.537e-05	6.439e-05	0.0001	0.0017	4.969e-05	3.972e-05	0.0008	0.0006	4.835e-05	0	6.57e-05	0	0	0	0	2.943e-05	0	0.0017	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	0.046253383	0.03794	T	.	.	.	.	.	.	.	0.171220215726	0.16700	0.09986113839688579	0.09917	.	.	.	.	.	0.046807	0.27536	T	-0.509642	0.00504	T	-0.969842	0.00206	T	.	.	.	0.778122	0.41194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.	.	0.433587	0.08038	4.760	0.448504638031887	0.03478	0.00520	0.02423	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0904122587264975	0.16108	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.395000	0.20576	-0.349000	0.09758	0.484000	0.22197	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	.	.	.	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	272.33	18	chr7	73553630	.	G	A	272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.78;DP=317;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.393;SOR=1.609	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,294	18	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G	.	532	983	5	2	0	9	0.00455696	.	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	204.33	19	chr7	73553638	.	A	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.137;SOR=1.179	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,294	18	0	1	0
chr7	73597220	73597220	C	T	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.G1565A:p.G522E,MLXIPL:NM_032952:exon9:c.G1565A:p.G522E,MLXIPL:NM_032953:exon9:c.G1565A:p.G522E,MLXIPL:NM_032954:exon9:c.G1565A:p.G522E	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0120396662747	.	.	0.0009	0	0.0005	0	0	0.0013	0.0043	0.0004	0.0004398	68	154602	rs202093717	0.0005	0.0005	0.0005	0.0005	0.0094	0.0005	0.0004	0.0071	0.0063	0.0002	0.0003	0.0071	0	5.927e-05	0.0094	0.0003	0.0014	0.0003	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0	0	0.0009	0.0084	0	0	0.0136	0.0004	0.0009	0.0004	0.095	0.31383	T	0.272	0.22223	T	0.403	0.39078	B	0.172	0.35394	B	0.082082	0.02365	N	1.906970	1	0.08975	N	1.95	0.52479	M	2.56	0.21473	T	-1.5	0.39119	N	0.274	0.36569	-1.0505	0.14258	T	0.040	0.17362	T	10	0.005509317	0.00122	T	0.01204	0.30251	T	0.094	0.27141	.	.	0.168254554758	0.16434	0.29255624909851363	0.29168	0.150283844389	0.16954	0.575063109398	0.49392	T	0.13656	0.46901	T	-0.371447	0.03521	T	-0.435075	0.29360	T	0.0142620983062781	0.00283	T	0.751425	0.37818	T	0.08475142	0.19631	0.11083388	0.26729	0.08475142	0.19631	0.11083388	0.26729	-5.854	0.45042	T	.	.	0.142	0.38800	B	.;.;.;.;.	.;.;.;.;.	1.137430	0.15243	11.70	0.90574960269996241	0.19829	0.29722	0.23896	N	AEFDBCI	0.193813	0.32092	N	-0.516233237319284	0.21555	1.144794	-0.530262133803652	0.21333	1.153546	0.0382562331435024	0.14338	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.24	3.34	0.37357	1.229000	0.32202	0.217000	0.16029	0.515000	0.23462	0.017000	0.19353	0.006000	0.19429	0.026000	0.12556	0.0:0.8736:0.0:0.1264	7.068	0.24340	900	0.24599	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009424	0.000000	0.010989	0.033133	0.000000	0.000000	0.000000	0.003906	0.02632	1393.33	37	chr7	73597220	.	C	T	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=859;ExcessHet=0;FS=4.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=1.07;SOR=0.409	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1124	18	0	1	0
chr7	73597691	73597691	G	A	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.C1094T:p.P365L,MLXIPL:NM_032952:exon9:c.C1094T:p.P365L,MLXIPL:NM_032953:exon9:c.C1094T:p.P365L,MLXIPL:NM_032954:exon9:c.C1094T:p.P365L	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0160186058118	.	0.000599042	6.109e-05	0	9.094e-05	0	0	0	0	0.0006	5.82e-05	9	154602	rs535101728	2.228e-05	3.762e-05	9.569e-06	3.59e-05	0.0004	1.526e-05	1.307e-05	0.0002	0.0002	0	0.0001	5.946e-05	0	0	0.0002	3.017e-06	8.057e-05	0.0004	5.921e-05	5.905e-05	3.861e-05	8.075e-05	0.0015	3.081e-05	2.212e-05	0.0007	0.0005	2.414e-05	0	0	0	0	0	0	1.472e-05	0	0.0015	0.007	0.91255	D	0.133	0.92824	T	0.015	0.17086	B	0.006	0.12133	B	0.317352	0.14330	U	0.649426	0.685236	0.33273	D	1.66	0.42513	L	2.41	0.25996	T	-4.13	0.75139	D	0.23	0.26596	-0.9902	0.32551	T	0.061	0.25455	T	10	0.034884393	0.01713	T	0.016019	0.37066	T	0.080	0.23350	.	.	0.0934897674506	0.08844	0.3127900300354524	0.31192	0.316814177364	0.33935	0.378973960876	0.22111	T	0.33176	0.70180	T	-0.454394	0.01064	T	-0.524039	0.19885	T	0.410446614027023	0.29335	T	0.835916	0.52334	T	0.16982426	0.37521	0.11904406	0.28735	0.16982426	0.37520	0.11904406	0.28734	-3.919	0.23968	T	.	.	0.091	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	3.271102	0.44781	22.0	0.9920577519740913	0.55412	0.66620	0.33141	D	AEFDBCI	0.302096	0.41044	N	-0.0640506278342064	0.38976	2.291265	0.039093156353445	0.41547	2.497963	0.673923769066436	0.22405	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.31	3.41	0.38145	4.636000	0.61037	11.583000	0.93355	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.2271:0.0:0.7728:0.0	5.837	0.17868	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1332.33	37	chr7	73597691	.	G	A	1332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.744;DP=867;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.38;SOR=0.773	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1124	18	0	1	0
chr7	73686650	73686650	A	T	exonic	BUD23	.	nonsynonymous SNV	BUD23:NM_001202560:exon3:c.A101T:p.D34V,BUD23:NM_017528:exon3:c.A101T:p.D34V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.180449983435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.51853	D	0.092	0.54541	T	0.628	0.40146	P	0.544	0.49014	P	0.000029	0.55875	D	0.154569	0.999995	0.58761	D	.	.	.	-0.33	0.68329	T	-5.08	0.83292	D	0.556	0.59816	-0.5670	0.66134	T	0.288	0.65948	T	10	0.69424933	0.72044	D	0.18045	0.85490	D	0.366	0.68582	0.445	0.50302	0.595804720487	0.59259	0.6351285235498323	0.63446	0.778968953321	0.65178	0.397497296333	0.24720	T	0.272451	0.64484	T	0.117988	0.66169	D	-0.0682955	0.65747	T	0.990539193153381	0.80756	D	0.986301	0.95349	D	0.43203565	0.62885	0.29942533	0.55976	0.43203565	0.62885	0.29942533	0.55975	-11.394	0.82272	D	.	.	0.335	0.64164	B	.;.;.;.	.;.;.;.	4.225870	0.63950	24.6	0.9691562213335716	0.31597	0.92296	0.55385	D	AEFBCI	0.798161	0.72478	D	0.187021707089614	0.50576	3.246257	0.139928931967122	0.46612	2.904301	0.969844853001704	0.29160	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.93	3.78	0.42629	5.675000	0.67796	6.970000	0.57087	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.9093:0.0:0.0907:0.0	8.688	0.33413	911	0.21964	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1170.33	34	chr7	73686650	.	A	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.363;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	18	0	1	0
chr7	73769988	73769988	A	G	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.T62C:p.I21T	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.340119394773	0.0024	0.000599042	0.0028	0.0005	0.0019	0	0.0012	0.0041	0.0066	0.0014	0.0022703	351	154602	rs113016282	0.0020	0.0020	0.0021	0.0020	0.0158	0.0020	0.0020	0.0131	0.0121	0.0007	0.0020	0.0154	0	0.0005	0.0158	0.0018	0.0039	0.0013	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0023	0.0020	0.0004	0	0.0029	0.0185	0	0.0004	0.0136	0.0021	0.0024	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.991	0.64070	D	0.97	0.72226	D	0.000459	0.44317	D	0.187626	0.858781	0.35350	D	2.715	0.79425	M	-2.61	0.89953	D	-4.13	0.75139	D	0.729	0.73015	0.682	0.92956	D	0.768	0.92101	D	10	0.012958348	0.00276	T	0.340119	0.91992	D	0.518	0.79461	.	.	0.872881601446	0.87164	0.8183121460000667	0.81788	1.81973249962	0.91917	0.692968964577	0.66132	T	0.634574	0.88717	D	-0.182573	0.23353	T	-0.0402671	0.67683	D	0.0434138198746558	0.04313	T	0.954805	0.82790	D	0.5379085	0.69279	0.52494216	0.72553	0.5379085	0.69280	0.52494216	0.72554	-7.243	0.55789	T	.	.	0.515	0.65239	A	.	.	4.951434	0.81797	27.6	0.99718081088523025	0.81843	0.97420	0.74637	D	AEFDBHCI	0.882172	0.81008	D	0.62522875360619	0.74775	6.190228	0.552416265015049	0.71566	5.674335	0.999999999871556	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	4.95	3.8	0.42887	9.223000	0.94355	9.269000	0.79621	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.9074:0.0:0.0926:0.0	8.626	0.33052	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021169	0.005051	0.028533	0.029240	0.000000	0.008621	0.024540	0.007576	0.02632	1834.33	38	chr7	73769988	.	A	G	1834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.675;DP=807;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.168;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	73834795	73834795	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C686T:p.P229L	.	403	1113	6	0	0	6	0.00268817	.	.	.	2825761	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0179870162932	0.0005	0.000798722	0.0009	9.722e-05	0.0006	0	0.0011	0.0010	0.0022	0.0016	0.0008021	124	154602	rs139220872	0.0006	0.0006	0.0005	0.0007	0.0015	0.0006	0.0005	0.0013	0.0012	0.0003	0.0004	0.0038	2.519e-05	0.0015	0.0012	0.0004	0.0008	0.0015	0.0005	0.0005	0.0005	0.0006	0.0014	0.0004	0.0004	0.0007	0.0005	2.406e-05	0	0.0002	0.0035	0	0.0008	0.0034	0.0007	0.0005	0.0014	0.995	0.01946	T	0.197	0.27855	T	0.0	0.02946	B	0.001	0.04355	B	0.000517	0.00624	N	3.098100	0.99943	0.21199	N	.	.	.	0.92	0.44461	T	-0.29	0.11728	N	0.03	0.00717	-1.0207	0.23486	T	0.032	0.13767	T	10	0.0017281771	0.00022	T	0.017987	0.39899	T	0.059	0.16972	.	.	0.0401082797425	0.02173	0.2841744814303522	0.28330	0.122856019318	0.13844	0.307415008545	0.11517	T	0.003554	0.02960	T	-0.682474	0.00046	T	-0.777731	0.02523	T	0.0157878852309769	0.00367	T	0.443756	0.12347	T	0.039662488	0.05518	0.03416285	0.02434	0.039662488	0.05517	0.03416285	0.02434	-3.54	0.16996	T	.	.	0.086	0.10835	B	.	.	-2.422672	0.00038	0.001	0.88556418225459899	0.18070	0.01115	0.04074	N	AEFDBHI	0.060564	0.11517	N	-1.73385461176364	0.00728	0.03145704	-1.74896364736272	0.00937	0.04194358	0.999999999906819	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.25	-10.5	0.00234	-6.282000	0.00089	-15.176000	0.00368	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.3719:0.4667:0.1615:0.0	8.734	0.33679	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1327.33	34	chr7	73834795	.	G	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=740;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.416;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1298	18	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.02632	1279.33	34	chr7	73834825	.	G	A	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=743;ExcessHet=0;FS=4.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.246;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1298:.	18	0	1	0
chr7	73865845	73865845	T	A	exonic	TMEM270	.	stopgain	TMEM270:NM_182504:exon3:c.T770A:p.L257X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111994	0.02648	N	2.126740	0.999971	0.18612	N	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33176	0.85283	D	0.238774	0.85090	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.112640	0.94590	34	0.90429264807964893	0.19689	0.02600	0.07167	N	AEFGBI	0.038443	0.05440	N	-0.141813300767251	0.35585	2.045777	-0.524321075725431	0.21493	1.162972	0.378573283739671	0.19939	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	0.085	0.13751	-0.120000	0.10633	0.270000	0.16646	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.4207:0.0:0.5793	5.840	0.17880	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	36	chr7	73865845	.	T	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=736;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.536;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1755:.	18	0	1	0
chr7	73865847	73865847	C	T	exonic	TMEM270	.	nonsynonymous SNV	TMEM270:NM_182504:exon3:c.C772T:p.P258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00136890550404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.11807	T	0.289	0.21078	T	0.001	0.07471	B	0.002	0.06944	B	0.784905	0.09442	N	0.870418	1	0.08975	N	.	.	.	2.2	0.18570	T	-4.42	0.77470	D	0.034	0.00942	-0.9901	0.32576	T	0.031	0.13242	T	10	0.03674838	0.01990	T	0.001369	0.01986	T	0.044	0.11924	0.109	0.01988	0.0138822411134	0.00435	0.056052200262900066	0.05546	0.0162732092815	0.01562	0.267518639565	0.05820	T	0.02936	0.21058	T	-0.322018	0.06733	T	-0.700333	0.05808	T	0.0801761820912361	0.10009	T	0.351465	0.07848	T	0.09484156	0.22309	0.12798849	0.30799	0.09484156	0.22308	0.12798849	0.30798	-2.944	0.09590	T	.	.	0.069	0.03093	B	.	.	-0.809210	0.01089	0.048	0.3276051264491725	0.01915	0.01211	0.04306	N	AEFGBI	0.045995	0.07588	N	-1.25135622726819	0.04282	0.1929451	-1.29447095012622	0.04505	0.2126293	0.380209286770071	0.19953	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	-0.122	0.12871	-1.244000	0.03013	-1.219000	0.05992	-0.827000	0.02907	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.5902:0.0:0.4098	6.981	0.23885	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	36	chr7	73865847	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=736;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.29;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,117,1755:.	18	0	1	0
chr7	74065699	74065699	C	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon26:c.C1756T:p.P586S,ELN:NM_001278918:exon26:c.C1732T:p.P578S,ELN:NM_001278916:exon27:c.C1855T:p.P619S,ELN:NM_001081752:exon28:c.C1912T:p.P638S,ELN:NM_001278914:exon28:c.C1927T:p.P643S,ELN:NM_001081753:exon29:c.C1957T:p.P653S,ELN:NM_001081755:exon29:c.C1942T:p.P648S,ELN:NM_001278917:exon29:c.C1969T:p.P657S,ELN:NM_000501:exon30:c.C1999T:p.P667S,ELN:NM_001081754:exon30:c.C2014T:p.P672S,ELN:NM_001278912:exon30:c.C1999T:p.P667S,ELN:NM_001278915:exon30:c.C2017T:p.P673S,ELN:NM_001278939:exon31:c.C2185T:p.P729S	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	209939	Cutis_laxa,_autosomal_dominant_1|Supravalvar_aortic_stenosis|not_provided|ELN-related_disorder	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.0392740487171	0.0002	.	0.0004	0	0.0005	0	0	0.0006	0.0022	0.0004	0.0003816	59	154602	rs142316834	0.0003	0.0003	0.0003	0.0004	0.0149	0.0003	0.0003	0.0124	0.0114	0.0008	0.0004	0.0005	0	0	0.0149	0.0002	0.0007	0.0006	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0005	0.0012	0	0	0.0340	0.0004	0.0033	0	0.0	0.91255	D	0.686	0.10103	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	0.999986	0.21461	N	-1.355	0.00654	N	1.72	0.26737	T	-0.2	0.15379	N	0.136	0.25989	-1.0049	0.28487	T	0.032	0.13898	T	8	0.01839146	0.00400	T	0.039274	0.58716	D	0.024	0.04979	.	.	0.259761712551	0.25597	0.21294015634475763	0.21210	0.184162317437	0.20708	0.454787969589	0.32598	T	0.068021	0.42065	T	-0.530821	0.00380	T	-0.653092	0.08739	T	0.0169525465095239	0.00446	T	0.406259	0.10435	T	0.038488485	0.05137	0.09521248	0.22572	0.04120068	0.06023	0.08275501	0.18913	-0.263	0.00767	T	.	.	0.047	0.13080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.201796	0.15941	12.21	0.61579949094420083	0.06744	0.02928	0.07742	N	AEFDBHCI	0.041446	0.06300	N	-1.02883308133424	0.08009	0.3740487	-1.03257217586282	0.09074	0.449437	0.456977597990576	0.20590	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	3.43	-0.672	0.10805	-0.087000	0.11181	0.034000	0.13773	-0.225000	0.07834	0.130000	0.23345	0.874000	0.27626	0.001000	0.02609	0.0:0.2291:0.2006:0.5703	3.464	0.07111	900	0.24599	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.010070	0.010101	0.009511	0.023392	0.000000	0.017241	0.000000	0.003788	0.02632	1198.33	36	chr7	74065699	.	C	T	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.794;SOR=0.73	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr7	74099072	74099072	G	C	exonic	LIMK1	.	nonsynonymous SNV	LIMK1:NM_001204426:exon4:c.G340C:p.E114Q,LIMK1:NM_002314:exon5:c.G442C:p.E148Q	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0293260840055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.575e-06	6.567e-06	0	1.346e-05	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.095	0.31235	T	0.165	0.30926	T	0.991	0.64070	D	0.794	0.57880	P	0.000033	0.55875	D	0.000000	0.996935	0.43515	D	1.875	0.49914	L	-0.92	0.75553	T	-1.01	0.28497	N	0.5	0.54147	-0.2652	0.75945	T	0.422	0.76717	T	10	0.410626	0.56199	T	0.029326	0.51857	D	0.154	0.40340	0.324	0.30549	0.761319916349	0.75914	0.2620020555747723	0.26114	1.20624080121	0.80715	0.590127468109	0.51511	T	0.026075	0.40616	T	-0.00175005	0.51412	T	-0.157425	0.58582	T	0.587608814239502	0.35912	D	0.919208	0.70896	D	0.20474616	0.42595	0.107084386	0.25773	0.20474616	0.42594	0.107084386	0.25772	-10.171	0.74929	D	.	.	0.179	0.39012	B	.;.;.	.;.;.	4.052342	0.60070	24.2	0.99765012148496468	0.85417	0.99589	0.97750	D	AEFDBI	0.829538	0.74843	D	0.452008857309421	0.64316	4.683487	0.536426737798186	0.70459	5.50831	0.999999993531428	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	6.418000	0.73248	9.693000	0.81279	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.763	0.69240	859	0.33891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	583.33	42	chr7	74099072	.	G	C	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.184;SOR=0.673	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1290	18	0	1	0
chr7	74317641	74317641	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon2:c.C95T:p.A32V,CLIP2:NM_032421:exon2:c.C95T:p.A32V	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0297341378959	.	.	3.567e-05	0	8.709e-05	0	0	4.721e-05	0	0	2.59e-05	4	154602	rs782235252	1.766e-05	3.831e-05	1.168e-05	2.374e-05	0.0002	1.195e-05	1.004e-05	7.517e-05	5.077e-05	3.412e-05	0.0002	0	0	0	0.0002	1.137e-05	3.624e-05	2.774e-05	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.551e-05	0	0.0002	0	0	1.47e-05	0	0	0.369	0.14111	T	0.161	0.31326	T	0.003	0.11197	B	0.002	0.06944	B	0.966345	0.07749	N	1.024520	1	0.08975	N	0.46	0.12951	N	0.18	0.60361	T	-0.3	0.11913	N	0.103	0.11340	-1.0236	0.22541	T	0.100	0.37060	T	10	0.048820257	0.04384	T	0.029734	0.52190	D	0.041	0.10877	0.255	0.19533	0.418638904736	0.41481	0.19595388829702512	0.19512	0.676354662105	0.59757	0.345049202442	0.17190	T	0.06674	0.33021	T	-0.310905	0.07669	T	-0.490722	0.23315	T	0.0333897312782951	0.02536	T	0.653935	0.26999	T	0.052242614	0.09715	0.038614593	0.03770	0.052242614	0.09715	0.038614593	0.03770	-5.829	0.44826	T	.	.	0.078	0.07889	B	.;.;.	.;.;.	1.613722	0.20617	14.83	0.98111590555033379	0.38359	0.02249	0.06516	N	AEFDBI	0.040604	0.06062	N	-0.914855256240392	0.10495	0.5017397	-0.897238218313302	0.12158	0.6238388	0.640587828665551	0.22050	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.52	2.58	0.30011	0.545000	0.22976	1.348000	0.25786	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.044000	0.14658	0.0:0.6869:0.1997:0.1134	5.662	0.16951	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2718.81	33	chr7	74317641	.	C	T	2718.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=30.21;ReadPosRankSum=-0.534;SOR=0.786	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1179	18	1	0	0
chr7	74376343	74376343	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.G1837A:p.E613K,CLIP2:NM_003388:exon10:c.G1942A:p.E648K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.124891470793	.	.	8.309e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs782209088	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.49613	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.415	0.69758	M	-0.4	0.73205	T	-2.69	0.57435	D	0.905	0.90590	0.190	0.85736	D	0.572	0.84531	D	10	0.80845135	0.80156	D	0.124891	0.80632	D	0.456	0.75483	0.205	0.12076	0.623186856834	0.62012	0.5987706101777364	0.59808	0.854301590583	0.68688	0.722709476948	0.70441	T	0.586386	0.86533	D	0.190997	0.73056	D	0.0365772	0.72705	D	0.938299715518951	0.60879	D	0.89751	0.72277	D	0.48399895	0.66142	0.32604086	0.58514	0.48399895	0.66143	0.32604086	0.58513	-9.694	0.72060	D	.	.	0.295	0.52557	B	.;.;.	.;.;.	4.666045	0.74522	26.2	0.99934545723080159	0.99535	0.98857	0.87776	D	AEFGBCI	0.905994	0.85821	D	0.802192656439162	0.86242	8.823118	0.77335855191548	0.87887	9.380221	0.999999957205682	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	9.282000	0.95009	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.0:1.0:0.0	17.217	0.86830	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	34	chr7	74376343	.	G	A	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=712;ExcessHet=0;FS=37.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=-0.4;SOR=5.42	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1227	18	0	1	0
chr7	74711097	74711097	T	G	exonic	GTF2I	.	nonsynonymous SNV	GTF2I:NM_001163636:exon9:c.T751G:p.Y251D,GTF2I:NM_001280800:exon9:c.T751G:p.Y251D,GTF2I:NM_001518:exon9:c.T751G:p.Y251D,GTF2I:NM_032999:exon9:c.T751G:p.Y251D,GTF2I:NM_033000:exon9:c.T751G:p.Y251D,GTF2I:NM_033001:exon9:c.T751G:p.Y251D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0270967972919	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199687489	7.848e-07	6.86e-07	1.573e-06	0	1.347e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.347e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.002	0.83351	D	0.996	0.70673	D	0.899	0.79672	P	0.004572	0.33608	N	0.208547	0.849294	0.29449	N	1.895	0.50365	L	1.24	0.49919	T	-3.39	0.66896	D	0.894	0.89353	-0.7452	0.58185	T	0.223	0.58678	T	10	0.6940148	0.72030	D	0.027097	0.49947	D	0.200	0.48430	0.269	0.21735	0.939048002523	0.93841	0.6064874021337336	0.60579	.	.	0.807655215263	0.83133	D	0.848567	0.96532	D	0.250049	0.78607	D	0.121402	0.78329	D	0.957959294319153	0.65143	D	0.943306	0.80194	D	0.11917769	0.28066	0.15165158	0.35713	0.11917769	0.28066	0.15165158	0.35712	-2.322	0.13101	T	.	.	0.690	0.82455	P	.;.;.;.;.	.;.;.;.;.	3.770900	0.54161	23.5	0.97827504801627185	0.36239	0.94871	0.62619	D	AEBI	0.370088	0.45658	N	0.225713909864608	0.52447	3.418885	0.172413078357017	0.48341	3.051343	0.903435531941937	0.26152	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	4.87	0.62877	4.394000	0.59433	6.164000	0.54386	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.736000	0.35301	0.0:0.0789:0.0:0.9211	9.660	0.39114	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	36	chr7	74711097	.	T	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.07;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,38:85:99:987,0,1125	18	0	1	0
chr7	74783529	74783529	G	A	exonic	NCF1	.	stopgain	NCF1:NM_000265:exon7:c.G579A:p.W193X	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive	83	1438	1	0	0	1	0.000347584	.	.	YES	415113	not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1|Chronic_granulomatous_disease	MedGen:C3661900|MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379|MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0006	0.0001	0.0002	0	0	0.0011	0.0024	0	0.0001537	4	26028	rs145360423	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0013	0.0010	8.982e-05	0.0002	0.0106	0	0	0.0024	0.0002	0.0011	8.125e-05	0.0006	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	0.0002	0.0002	0.0001	0	0.0004	0.0141	0	0	0.0034	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.836	0.83167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407994	0.90370	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.346642	0.97456	37	0.99534020197779782	0.70087	0.91973	0.54665	D	AEFCI	0.329466	0.42980	N	0.727571311352137	0.81441	7.522594	0.545739924290384	0.71100	5.60387	0.994667165185099	0.33742	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	8.985000	0.93048	11.737000	0.95113	0.492000	0.22399	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0:0.0:1.0:0.0	15.444	0.74940	958	0.09170	SH3 domain|SH3 domain|SH3 domain|Neutrophil cytosol factor 1, first SH3 domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002375	0.000000	0.005464	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	180.33	33	chr7	74783529	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.366;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=34.82;MQRankSum=0.119;QD=10.02;ReadPosRankSum=1.22;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr7	74909585	74909585	G	A	exonic	SPDYE12P	.	nonsynonymous SNV	SPDYE12P:NM_001382555:exon5:c.C431T:p.A144V	.	492	1028	2	0	0	2	0.000971817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs587664649	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0010	0.0009	9.294e-05	0.0006	0.0029	2.54e-05	0	0.0015	5.441e-05	0.0005	0.0012	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	7.268e-05	0	0.0011	0.0023	0	0	0	8.901e-05	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	34	chr7	74909585	.	G	A	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=717;ExcessHet=0;FS=1.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.92;MQRankSum=-0.373;QD=10.31;ReadPosRankSum=0.391;SOR=1.013	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	0	1	0
chr7	74913183	74913183	T	-	exonic	SPDYE12P	.	frameshift deletion	SPDYE12P:NM_001382555:exon2:c.98delA:p.E33Gfs*15	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0005	0.0003	0.0007	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0017	1.107e-05	0.0006	0.0073	0.0002	0.0002	9.037e-05	0.0002	0.0046	0.0001	9.748e-05	0.0031	0.0026	0	0	0	0	0	0	0	4.42e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	206.29	34	chr7	74913182	.	CT	C	206.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=658;ExcessHet=0;FS=8.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.65;MQRankSum=-1.612;QD=3.56;ReadPosRankSum=-0.021;SOR=2.187	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr7	75287098	75287098	C	T	exonic	SPDYE13	.	stopgain	SPDYE13:NM_001382563:exon6:c.C775T:p.R259X	.	1401	120	0	1	0	2	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479391849	0.0033	0.0010	0.0035	0.0030	0.3217	0.0030	0.0029	0.2939	0.2830	0	0.0096	0	0.3217	0	0	0.0002	0.0026	0.0009	0.0011	0.0048	0.0004	0.0018	0.2857	0.0004	0.0003	0.0976	0.0588	0	0	0	0	0.2857	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	181.83	.	chr7	75287098	.	C	T	181.83	.	AC=2;AF=0.167;AN=12;DP=86;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=30.62;QD=25.98;SOR=2.584	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	1	0	13
chr7	75399301	75399301	C	T	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon2:c.C368T:p.T123M,TRIM74:NM_198853:exon2:c.C368T:p.T123M,TRIM73:NM_198924:exon2:c.C368T:p.T123M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0150913758785	.	.	0.0014	0	0	0	0	0.0017	0	0	.	.	.	rs782004984	0.0003	0.0003	0.0003	0.0003	0.0036	0.0003	0.0002	0.0029	0.0026	0.0036	0.0002	0	0	3.317e-05	0	0.0002	0.0003	0.0006	0.0008	0.0009	0.0008	0.0008	0.0031	0.0006	0.0005	0.0022	0.0019	0.0031	0	0.0003	0	0	0	0	0.0001	0	0.0008	0.182	0.46910	T	0.01	0.74150	D	0.989	0.62824	D	0.828	0.59497	P	0.000008	0.62929	D	0.000000	1	0.81001	D	0.49	0.13296	N	0.92	0.44461	T	-0.24	0.14978	N	0.174	0.19325	-0.7824	0.56167	T	0.154	0.48464	T	10	0.045758814	0.03684	T	0.015091	0.35618	T	0.135	0.36572	.	.	0.289847578895	0.28608	0.050267181479346765	0.04969	.	.	0.76369792223	0.76481	T	0.003975	0.03383	T	-0.461796	0.00958	T	-0.437587	0.29080	T	0.0427572814612288	0.04192	T	0.816718	0.47282	T	0.04598542	0.07621	0.080437444	0.18195	0.04598542	0.07620	0.080437444	0.18195	-6.48	0.50132	T	.	.	0.121	0.25232	B	.;.;.;.	.;.;.;.	4.682002	0.74937	26.2	0.99735602508875543	0.83119	0.73645	0.36023	D	AEFGBI	0.293206	0.40388	N	0.0538500408161039	0.44319	2.708197	-0.091101559737201	0.35756	2.072517	0.405231269141725	0.20165	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.31	2.31	0.27816	1.102000	0.30662	4.492000	0.43575	0.440000	0.21072	0.585000	0.27626	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	12.185	0.53542	940	0.13648	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	33.74	4	chr7	75399301	.	C	T	33.74	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=124;ExcessHet=0;FS=0;InbreedingCoeff=-0.052;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,173	18	0	1	0
chr7	75404846	75404846	C	T	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon4:c.C503T:p.S168L,TRIM74:NM_198853:exon4:c.C503T:p.S168L,TRIM73:NM_198924:exon4:c.C503T:p.S168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0215601994771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.091e-05	1.096e-05	1.382e-05	7.905e-06	4.155e-05	6.33e-06	4.95e-06	1.103e-05	5.06e-06	0	0	0	0	0	0	1.015e-05	1.868e-05	4.155e-05	4.044e-05	2.094e-05	3.724e-05	4.424e-05	7.847e-05	6.7e-06	2.51e-06	1.298e-05	4.85e-06	0	0	0	0	0	0	0	7.847e-05	0	0	0.004	0.65419	D	0.0	0.92824	D	0.996	0.68779	D	0.773	0.56974	P	0.002531	0.36389	N	0.120821	0.939292	0.26840	N	0.805	0.20218	L	-0.43	0.69657	T	-4.31	0.76576	D	0.752	0.75101	-0.7244	0.59244	T	0.253	0.62303	T	10	0.4321081	0.57558	T	0.02156	0.44345	T	0.194	0.47447	0.399	0.42753	0.559697257647	0.55631	0.09837572576450104	0.09768	.	.	0.803728699684	0.82532	D	0.002145	0.01547	T	-0.0174067	0.49222	T	-0.26278	0.48547	T	0.954147040843964	0.64194	D	0.909509	0.73035	D	0.08969815	0.20967	0.10801074	0.26012	0.08969815	0.20966	0.10801074	0.26011	-6.857	0.52982	T	.	.	0.157	0.48928	B	.;.;.;.;.	.;.;.;.;.	4.684227	0.74992	26.3	0.99822304305048937	0.90502	0.93169	0.57505	D	AEFI	0.535689	0.55421	D	0.293574217326384	0.55822	3.746336	0.271367976814921	0.53875	3.554393	0.0016208862540558	0.08707	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.39	3.39	0.37919	5.598000	0.67274	5.632000	0.49119	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:1.0:0.0:0.0	13.826	0.62844	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	30	chr7	75404846	.	C	T	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=583;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.84;MQRankSum=-1.035;QD=10.74;ReadPosRankSum=0.398;SOR=0.536	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,750	18	0	1	0
chr7	75405067	75405067	T	C	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon4:c.T724C:p.W242R,TRIM74:NM_198853:exon4:c.T724C:p.W242R,TRIM73:NM_198924:exon4:c.T724C:p.W242R	.	421	1100	0	1	0	2	0.000908265	0	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00807094292626	0.0009	0.00139776	0.0028	0.0006	0.0011	0.0059	0.0082	0.0030	0.0044	0.0008	0.0001488	23	154602	rs139338132	0.0019	0.0022	0.0019	0.0019	0.0083	0.0019	0.0019	0.0076	0.0073	0.0004	0.0011	0.0062	0.0083	0.0089	0.0010	0.0014	0.0023	0.0008	0.0025	0.0029	0.0025	0.0026	0.0061	0.0023	0.0023	0.0044	0.0038	0.0005	0	0.0019	0.0081	0.0061	0.0088	0	0.0025	0.0029	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.015580	0.28211	N	0.241055	0.999991	0.18878	N	-0.805	0.01590	N	-0.22	0.66652	T	5.15	0.00247	N	0.174	0.21319	-1.0190	0.24041	T	0.098	0.36728	T	10	0.005619824	0.00125	T	0.008071	0.21393	T	0.103	0.29403	0.576	0.70087	0.21737058555	0.21362	0.009416757305320331	0.00904	.	.	0.269359052181	0.06058	T	0.005441	0.04891	T	-0.508944	0.00509	T	-0.502197	0.22121	T	0.000507140484801802	0.00004	T	0.0727927	0.00791	T	0.058901075	0.11905	0.06640068	0.13595	0.058901075	0.11904	0.06640068	0.13595	-1.657	0.02119	T	.	.	0.038	0.09094	B	.;.;.;.;.	.;.;.;.;.	1.414733	0.18307	13.66	0.7637123368430857	0.11441	0.02733	0.07404	N	AEFI	0.041062	0.06192	N	-0.862645020683284	0.11740	0.5682506	-0.700356746248871	0.16951	0.8991472	2.22642065109239E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.36	3.36	0.37579	2.005000	0.40484	3.004000	0.35933	-0.300000	0.06199	1.000000	0.71638	0.996000	0.32793	0.207000	0.22098	0.0:0.8928:0.0:0.1072	9.816	0.40024	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001794	0.000000	0.001366	0.000000	0.083333	0.000000	0.003546	0.000000	0.02632	3137.33	33	chr7	75405067	.	T	C	3137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.123;DP=929;ExcessHet=0;FS=14.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.44;MQRankSum=-3.655;QD=10.53;ReadPosRankSum=1.89;SOR=0.809	GT:AD:DP:GQ:PL	0/1:147,151:298:99:3151,0,3247	18	0	1	0
chr7	75422328	75422328	C	T	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.G1924A:p.V642M	.	432	1089	1	0	0	1	0.000458926	.	.	.	2192995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0166944482338	.	0.000199681	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs587695223	0.0006	0.0008	0.0007	0.0006	0.0017	0.0006	0.0006	0.0014	0.0013	5.988e-05	0.0002	0.0015	0.0017	0.0056	0	0.0004	0.0010	0.0003	0.0008	0.0010	0.0007	0.0009	0.0023	0.0007	0.0006	0.0013	0.0010	4.81e-05	0	0.0002	0.0009	0.0023	0.0052	0	0.0006	0.0019	0.0004	.	.	.	0.011	0.64786	D	0.994	0.66517	D	0.669	0.53077	P	0.117686	0.02697	N	2.036930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.091	0.10911	-1.0292	0.20713	T	0.056	0.23753	T	10	0.008209616	0.00186	T	0.016694	0.38065	T	.	.	.	.	0.0716867268079	0.06686	0.09211376097334553	0.09144	.	.	0.487985908985	0.37159	T	0.006243	0.05676	T	-0.624652	0.00103	T	-0.672467	0.07451	T	0.032899999570433	0.02455	T	0.608739	0.23716	T	0.011771278	0.00022	0.027055128	0.00832	0.011771278	0.00022	0.027055128	0.00832	-5.358	0.41369	T	.	.	0.101	0.17573	B	.;.	.;.	1.535808	0.19703	14.39	0.99607063249147221	0.74575	0.01389	0.04721	N	AEFI	0.045705	0.07506	N	-0.488995921805993	0.22440	1.19828	-0.73177885509907	0.16172	0.8541905	1.13015377037565E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.04	-1.44	0.08391	-0.213000	0.09309	0.178000	0.15598	-0.442000	0.05168	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3053:0.2053:0.4893	3.627	0.07658	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	550.33	39	chr7	75422328	.	C	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=891;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.86;MQRankSum=-2.981;QD=4.14;ReadPosRankSum=-1.091;SOR=0.556	GT:AD:DP:GQ:PL	0/1:99,34:133:99:564,0,2308	18	0	1	0
chr7	75440980	75440980	G	C	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.C201G:p.F67L	.	426	1091	5	0	0	5	0.00228624	.	.	.	2338727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00160034460987	0.0008	0.000399361	0.0010	9.612e-05	8.637e-05	0	0.0006	0.0014	0	0.0010	0.0003458	9	26028	rs201581797	0.0007	0.0007	0.0007	0.0008	0.0023	0.0007	0.0007	0.0013	0.0011	0	6.709e-05	0.0010	5.038e-05	0.0003	0.0023	0.0008	0.0005	0.0011	0.0008	0.0008	0.0010	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	2.406e-05	0	0.0003	0.0006	0	0.0004	0	0.0015	0	0.0006	.	.	.	0.657	0.08134	T	0.022	0.18677	B	0.015	0.17295	B	0.964401	0.07738	N	1.022090	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.194	0.25989	-1.0194	0.23910	T	0.022	0.09421	T	10	0.0076721013	0.00174	T	0.002	0.02574	T	.	.	0.279	0.23323	0.0297737177859	0.01360	0.11341304815981385	0.11269	.	.	0.486728549004	0.36985	T	0.016277	0.13483	T	-0.438505	0.01320	T	-0.443192	0.28451	T	0.0120436892255986	0.00190	T	0.608539	0.23687	T	0.10604403	0.25075	0.11791089	0.28463	0.10604403	0.25075	0.11791089	0.28463	-2.071	0.03461	T	.	.	0.362	0.63904	A	.;.	.;.	-0.788438	0.01130	0.052	0.65039823250916484	0.07661	0.05330	0.11183	N	AEFBI	0.055768	0.10256	N	-1.41036187583676	0.02547	0.1126107	-1.55616114730127	0.01934	0.08824471	0.999999187971935	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-7.33	0.01284	-1.188000	0.03173	-0.619000	0.08183	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.313:0.0:0.687:0.0	14.739	0.69054	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001773	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1539.33	47	chr7	75440980	.	G	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=947;ExcessHet=0;FS=10.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.02;MQRankSum=-3.834;QD=13.5;ReadPosRankSum=0.27;SOR=0.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1273	18	0	1	0
chr7	75501416	75501416	C	A	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.C810A:p.F270L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.46649	.	.	.	.	.	.	.	0.16587067	0.30991	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.128492083018516	0.12774	.	.	0.616436123848	0.55225	T	.	.	.	0.0148524	0.53685	T	-0.216442	0.53079	T	.	.	.	0.717528	0.33029	T	0.07421858	0.16640	0.09457625	0.22392	0.07421858	0.16640	0.09457625	0.22392	-8.797	0.66381	D	.	.	0.822	0.79531	P	.;.;.	.;.;.	0.406025	0.07770	4.457	0.57355622055060629	0.05751	0.00614	0.02721	N	AEFI	.	.	.	.	.	.	.	.	.	9.31201726495322E-6	0.01202	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.109871	0.03346	0	0.0877649	0.19871	0.9	-0.6	0.11058	0.200000	0.17055	-1.218000	0.05994	0.197000	0.17898	0.021000	0.19753	0.000000	0.08366	0.049000	0.15107	0.0:0.5935:0.0:0.4065	3.346	0.06717	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1588.33	33	chr7	75501416	.	C	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=943;ExcessHet=0;FS=1.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.21;MQRankSum=-6.253;QD=8.78;ReadPosRankSum=0.052;SOR=0.537	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr7	75501625	75501625	A	G	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.A1019G:p.Q340R	.	.	.	.	.	.	.	.	.	.	.	3326735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	7.447e-05	0	8.652e-05	0	0	0.0001	0	0	6.47e-05	10	154602	rs200876292	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0001	0.0016	0.0012	0.0004	0.0007	0.0017	0	0	0.0026	8.726e-05	0.0006	0.0002	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0010	0.0009	0.0004	0	0.0015	0.0026	0	0	0	0.0002	0.0009	0	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	0.32812	.	.	.	.	.	.	.	0.024536192	0.00678	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.191773842267067	0.19095	.	.	0.508211612701	0.39971	T	.	.	.	-0.404707	0.02156	T	-0.45036	0.27656	T	.	.	.	0.316968	0.06317	T	0.10685099	0.25266	0.15039565	0.35470	0.10685099	0.25265	0.15039565	0.35470	-7.343	0.56501	T	.	.	0.129	0.27672	B	.;.;.	.;.;.	-0.007682	0.04228	1.040	0.20342970817872341	0.00727	0.00479	0.02286	N	AEFI	.	.	.	.	.	.	.	.	.	8.77624057610332E-6	0.01202	0.162113	0.03585	0	0.077846	0.01938	0	0.175069	0.04249	0	0.089874	0.02613	0	0.0818509	0.18730	.	.	.	0.454000	0.21539	-0.219000	0.10781	0.257000	0.18371	0.031000	0.20493	0.006000	0.19429	0.009000	0.08673	.	.	.	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003175	0.015152	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2890.33	41	chr7	75501625	.	A	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.568;DP=1302;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.74;MQRankSum=2.58;QD=10.04;ReadPosRankSum=2.04;SOR=0.778	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr7	75501736	75501736	C	T	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.C1130T:p.S377F	.	.	.	.	.	.	.	.	.	.	.	2207734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0010	0	0	0.0004	0.0033	0	0.0003105	48	154602	rs201900151	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0005	0.0008	0.0021	0	1.872e-05	0.0028	0.0001	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0004	0	0.0017	0.0026	0	0	0	0.0003	0.0009	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.025426328	0.00737	T	.	.	.	.	.	.	.	0.347217280506	0.34334	0.14920521989408808	0.14842	.	.	0.601694464684	0.53143	T	.	.	.	-0.277505	0.10934	T	-0.234773	0.51307	T	.	.	.	0.632737	0.24712	T	0.062384482	0.13023	0.0856463	0.19788	0.062384482	0.13023	0.0856463	0.19788	-10.685	0.77902	D	.	.	0.466	0.64389	A	.;.;.	.;.;.	2.387778	0.30663	18.50	0.7607436025071469	0.11323	0.00216	0.01224	N	AEFI	.	.	.	.	.	.	.	.	.	9.98266008568994E-6	0.01202	0.099367	0.02607	0	0.077846	0.01938	0	0.083675	0.02720	0	0.117559	0.03655	0	0.0481801	0.07606	1.58	-0.983	0.09738	0.526000	0.22680	1.031000	0.23480	0.197000	0.17898	0.056000	0.21631	0.001000	0.17328	0.038000	0.14061	0.3423:0.4068:0.0:0.2508	1.639	0.02582	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004233	0.020202	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1910.33	41	chr7	75501736	.	C	T	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=1232;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-1.516;QD=13.45;ReadPosRankSum=1.05;SOR=0.898	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr7	75554511	75554511	G	A	exonic	HIP1	.	nonsynonymous SNV	HIP1:NM_001243198:exon20:c.C1979T:p.T660M,HIP1:NM_001382444:exon20:c.C1877T:p.T626M,HIP1:NM_001382445:exon20:c.C1892T:p.T631M,HIP1:NM_005338:exon20:c.C1979T:p.T660M	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0153552294186	7.7e-05	.	0.0003	0	0	0.0005	0	0.0002	0	0.0009	0.0002199	34	154602	rs200918019	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.236e-05	0	0.0004	0	0.0021	0.0002	0.0002	0.0010	0.0001	0.0001	0.0002	9.416e-05	0.0006	8.17e-05	6.726e-05	0.0002	9.896e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.025	0.47320	D	0.038	0.55759	D	0.208	0.29916	B	0.111	0.31539	B	0.243850	0.15653	N	0.678176	1	0.08975	N	1.1	0.28011	L	2.82	0.13095	T	-0.1	0.08495	N	0.173	0.23125	-1.0167	0.24787	T	0.015	0.06090	T	10	0.022976846	0.00588	T	0.015355	0.36047	T	0.032	0.07718	.	.	0.117191471859	0.11215	0.37539357960771996	0.37453	0.358169936136	0.37530	0.272308409214	0.06444	T	0.081318	0.36568	T	-0.60718	0.00132	T	-0.701297	0.05755	T	0.0279538958731251	0.01681	T	0.90401	0.66975	D	0.017013725	0.00239	0.0312181	0.01680	0.017013725	0.00239	0.0312181	0.01680	-5.229	0.40591	T	.	.	0.072	0.11893	B	.;.;.	.;.;.	1.982121	0.25182	16.67	0.96958864639654396	0.31771	0.07750	0.13750	N	AEFDBI	0.065269	0.12721	N	-0.87596498889861	0.11416	0.5508061	-0.951658870993519	0.10884	0.5511062	0.972602077563428	0.29385	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-2.96	0.05212	0.391000	0.20511	1.993000	0.30087	0.675000	0.71128	0.228000	0.24622	0.992000	0.31684	0.122000	0.19250	0.1114:0.2384:0.4591:0.1911	3.151	0.06098	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1367.33	39	chr7	75554511	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=775;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.556;SOR=0.492	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr7	75881969	75881969	G	A	exonic	RHBDD2	.	nonsynonymous SNV	RHBDD2:NM_001040456:exon2:c.G319A:p.A107T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00465810805836	.	.	4.14e-05	0	0	0	0	2.997e-05	0	0.0002	3.23e-05	5	154602	rs782706762	3.694e-05	3.694e-05	2.859e-05	4.538e-05	9.275e-05	2.894e-05	2.592e-05	4.578e-05	3.272e-05	0	0	0	2.519e-05	0	0	4.047e-05	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08261	T	0.132	0.34477	T	0.019	0.17989	B	0.01	0.14941	B	0.083947	0.20724	N	0.496746	1	0.81001	D	0.405	0.12330	N	2.45	0.15028	T	-1.01	0.26639	N	0.184	0.19995	-1.0329	0.19522	T	0.025	0.10733	T	10	0.11686766	0.22057	T	0.004658	0.11566	T	0.092	0.26621	0.724	0.85850	0.231005064126	0.22704	0.40287268736477017	0.40203	0.264593747755	0.29004	0.365835487843	0.20233	T	0.057725	0.30645	T	-0.399975	0.02316	T	-0.609659	0.12013	T	0.02732558939236	0.01590	T	0.670833	0.27951	T	0.037215043	0.04729	0.05089632	0.08081	0.037215043	0.04729	0.05089632	0.08081	-3.208	0.12579	T	.	.	0.095	0.14888	B	.	.	1.591101	0.20349	14.71	0.95670852722404476	0.27516	0.50589	0.28698	D	AEFDGBCI	0.119453	0.23313	N	-0.928774659929672	0.10174	0.4848963	-0.850090449621935	0.13285	0.6883502	0.977285112094437	0.29806	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.63	-3.28	0.04721	0.570000	0.23357	0.162000	0.15417	-0.633000	0.04490	0.935000	0.32453	0.006000	0.19429	0.979000	0.57723	0.5367:0.0:0.3596:0.1037	7.880	0.28777	711	0.56613	Peptidase S54, rhomboid domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3300.33	40	chr7	75881969	.	G	A	3300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=896;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.709;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr7	75986234	75986234	G	A	exonic	POR	.	nonsynonymous SNV	POR:NM_001382662:exon14:c.G1741A:p.V581I,POR:NM_000941:exon15:c.G1891A:p.V631I,POR:NM_001382659:exon15:c.G1891A:p.V631I,POR:NM_001367562:exon16:c.G1891A:p.V631I,POR:NM_001382655:exon16:c.G1945A:p.V649I,POR:NM_001382657:exon16:c.G1891A:p.V631I,POR:NM_001382658:exon16:c.G1891A:p.V631I	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1498	23	1	0	25	0.00827541	.	.	.	268412	POR-related_disorder|Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency|not_provided	.|MONDO:MONDO:0008726,MedGen:C3150099,OMIM:201750,Orphanet:63269|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.101863777252	0.0013	0.00239617	0.0017	0.0004	0.0023	0	0.0009	0.0015	0.0012	0.0045	0.0015912	246	154602	rs145782750	0.0014	0.0014	0.0013	0.0015	0.0052	0.0014	0.0014	0.0040	0.0038	0.0002	0.0022	0.0008	2.519e-05	0.0008	0.0052	0.0013	0.0017	0.0043	0.0012	0.0012	0.0014	0.0010	0.0042	0.0011	0.0010	0.0028	0.0023	0.0005	0	0.0018	0.0012	0	0.0003	0.0068	0.0015	0.0024	0.0042	0.648	0.13925	T	0.486	0.14818	T	.	.	.	.	.	.	0.000096	0.51296	D	0.133496	0.99998	0.81001	D	.	.	.	-1.31	0.79666	T	-0.39	0.13611	N	0.403	0.69913	-0.6161	0.64151	T	0.312	0.68220	T	10	0.01781547	0.00383	T	0.101864	0.77500	D	0.410	0.72176	.	.	0.786541166568	0.78456	0.2799518002776957	0.27908	0.0987441259954	0.11157	0.532380521297	0.43370	T	.	.	.	-0.177389	0.24125	T	-0.0281043	0.68494	D	0.00877987643650732	0.00108	T	0.919408	0.70943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.16670	B	.;.;.	.;.;.	2.426501	0.31206	18.67	0.83963074634987866	0.15019	0.77817	0.38307	D	AEFDBCI	0.383177	0.46478	N	-0.288807445490312	0.29580	1.64161	-0.161039866589119	0.32986	1.882163	0.996289580345896	0.34642	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.46	3.46	0.38718	2.167000	0.42042	5.046000	0.46955	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.267000	0.23694	0.0:0.0:1.0:0.0	15.162	0.72477	601	0.67921	.;.;Oxidoreductase FAD/NAD(P)-binding|Flavoprotein pyridine nucleotide cytochrome reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.008772	0.000000	0.000000	0.009146	0.007576	0.02632	1923.33	44	chr7	75986234	.	G	A	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=900;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.354;SOR=0.669	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1438	18	0	1	0
chr7	75987745	75987745	C	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001363462:exon8:c.G860A:p.R287Q,TMEM120A:NM_001317803:exon9:c.G757A:p.E253K,TMEM120A:NM_031925:exon9:c.G757A:p.E253K	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.894e-06	0	0	0	0	1.608e-05	0	0	6.5e-06	1	154602	rs782587381	9.589e-06	9.577e-06	1.363e-05	5.508e-06	8.961e-05	5.57e-06	4.35e-06	2.374e-05	1.258e-05	8.961e-05	0	0	5.039e-05	0	0	5.397e-06	1.658e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.40909	T	1.0	0.90584	D	0.971	0.72444	D	.	.	.	.	.	.	.	2.77	0.80896	M	.	.	.	.	.	.	0.749	0.74826	.	.	.	.	.	.	.	0.6314427	0.68540	D	.	.	.	.	.	.	.	0.128392430309	0.12331	0.6415676251572893	0.64091	.	.	0.854170680046	0.90243	D	0.07827	0.35851	T	0.227424	0.76478	D	0.0889017	0.76172	D	.	.	.	0.977602	0.92086	D	0.14183517	0.32666	0.37480778	0.62638	0.14183517	0.32665	0.37480778	0.62638	-9.203	0.68994	D	.	.	0.473	0.64618	A	.;.;.	.;.;.	4.646991	0.74039	26.1	0.8775474584060009	0.17458	0.92119	0.54987	D	AEFDGBHCI	0.768128	0.70378	D	.	.	.	.	.	.	0.998917990029215	0.37962	0.295142	0.05270	0	0.271743	0.05004	0	0.283776	0.05401	0	0.322829	0.05601	0	.	.	4.46	3.5	0.39181	3.998000	0.56736	5.902000	0.50901	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.473000	0.28408	0.167:0.833:0.0:0.0	12.548	0.55560	601	0.67921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3162.81	40	chr7	75987745	.	C	T	3162.81	.	AC=2;AF=0.053;AN=38;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.29;SOR=0.999	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	1	0	0
chr7	76261375	76261375	G	A	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon7:c.G599A:p.R200H,SRRM3:NM_001291831:exon7:c.G599A:p.R200H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0038763935712	.	.	6.14e-05	0	0	0	0	5.407e-05	0	0.0002	2.59e-05	4	154602	rs782795402	2.135e-05	2.463e-05	1.916e-05	2.356e-05	0.0005	1.53e-05	1.333e-05	0.0001	7.568e-05	0	0	0	0	0	0.0005	1.806e-05	0	9.443e-05	7.454e-06	7.13e-06	0	1.576e-05	1.524e-05	0	0	.	.	0	0	0	0	0	0	0	1.524e-05	0	0	.	.	.	0.191	0.28391	T	.	.	.	.	.	.	0.005737	0.32555	N	0.129279	0.664438	0.33083	D	.	.	.	.	.	.	.	.	.	0.405	0.44570	-0.9945	0.31432	T	0.009	0.03054	T	10	0.14632878	0.27745	T	0.003876	0.09086	T	.	.	.	.	0.043077524339	0.03247	0.08846898128194174	0.08779	.	.	0.545044124126	0.45158	T	.	.	.	-0.026546	0.47917	T	-0.275908	0.47222	T	0.530292570590973	0.33745	D	0.714229	0.32652	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.36033	B	.	.	4.000054	0.58929	24.0	0.99727862160393055	0.82549	0.84031	0.43118	D	AEFDBI	0.526782	0.54899	D	-0.00512003617770868	0.41622	2.492971	0.155161173600322	0.47416	2.972155	0.997651043785158	0.35867	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.26	4.36	0.51643	3.960000	0.56459	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0903:0.0:0.9097:0.0	10.615	0.44635	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	498.33	41	chr7	76261375	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.166;SOR=0.64	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr7	76285803	76285803	G	C	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon15:c.G1922C:p.S641T,SRRM3:NM_001291831:exon16:c.G2001C:p.Q667H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.183684319355	.	.	0.0005	0	0.0030	0	0	0.0008	0	0.0003	9.06e-05	14	154602	rs782174489	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0	0	0	0	0.0003	0	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	0	0	0	0	0	0.0003	0	0.0006	0.0005	0.0002	.	.	.	0.109	0.37449	T	.	.	.	.	.	.	0.003878	0.34390	N	0.126684	0.858532	0.81001	D	.	.	.	.	.	.	.	.	.	0.209	0.23253	-0.8116	0.54454	T	0.145	0.46841	T	8	0.020020008	0.00455	T	0.183684	0.85701	D	.	.	.	.	0.043077524339	0.03247	0.49180484361985083	0.49101	.	.	0.436711192131	0.30128	T	.	.	.	-0.295992	0.09042	T	-0.254297	0.49391	T	0.0635122358798981	0.07709	T	0.358264	0.08182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32420	B	.	.	3.858915	0.55945	23.7	0.88000479937061837	0.17641	0.95856	0.66447	D	AEFBI	0.564078	0.57101	D	-0.116500753089561	0.36674	2.123042	-0.0234057964153684	0.38661	2.280892	0.792342658820242	0.24037	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.1	3.21	0.35933	5.890000	0.69515	9.904000	0.82373	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0982:0.0:0.9018:0.0	10.502	0.44000	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001117	0.000000	0.006270	0.000000	0.000000	0.000000	0.003378	0.004132	0.02632	688.33	36	chr7	76285803	.	G	C	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=694;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.351;SOR=1.071	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1192	18	0	1	0
chr7	76429540	76429540	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon2:c.G338A:p.S113N,ZP3:NM_007155:exon3:c.G185A:p.S62N	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	.	.	0.0161741	0.0066	0	0.0004	0.0014	0	3.001e-05	0.0033	0.0470	0.0058473	904	154602	rs140906109	0.0030	0.0030	0.0018	0.0043	0.0463	0.0030	0.0029	0.0451	0.0446	0.0001	0.0002	0	0.0049	0	0.0029	2.248e-05	0.0033	0.0463	0.0018	0.0019	0.0011	0.0027	0.0522	0.0017	0.0016	0.0469	0.0448	4.816e-05	0	0.0004	0	0.0029	0	0	2.941e-05	0.0019	0.0522	0.036	0.45393	D	0.032	0.53426	D	0.029	0.44430	B	0.037	0.47504	B	0.567316	0.11274	N	0.802830	0.994204	0.81001	D	3.12	0.87914	M	-1.69	0.82985	D	-1.43	0.35399	N	0.47	0.53532	0.291	0.87409	D	0.641	0.87461	D	10	0.008418739	0.00191	T	.	.	.	0.467	0.76222	.	.	0.791705908529	0.78977	0.772612362208062	0.77211	0.0221848989643	0.02225	0.444870829582	0.31243	T	0.462823	0.79903	T	-0.325309	0.06472	T	-0.20648	0.54031	T	0.0540429833937973	0.06196	T	0.643236	0.25495	T	0.22360739	0.44985	0.22723378	0.47727	0.2635537	0.49420	0.22723378	0.47726	-6.049	0.50417	T	0.4782862898648039	0.55742	0.159	0.41587	B	.;.	.;.	2.908676	0.38574	20.8	0.9952137729742988	0.69284	0.85141	0.44249	D	AEFDBCI	0.265783	0.38284	N	0.292174853981769	0.55753	3.739262	0.344972444976681	0.58206	3.989742	0.999999519705573	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.21	5.21	0.72005	1.435000	0.34578	2.563000	0.33324	0.676000	0.76740	0.959000	0.33545	0.999000	0.35428	0.907000	0.44265	0.0:0.0:1.0:0.0	16.244	0.82257	886	0.28090	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.000000	0.002924	0.050000	0.000000	0.003049	0.003788	0.02632	2132.33	42	chr7	76429540	.	G	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=890;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.132;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr7	77052976	77052976	C	G	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon5:c.G752C:p.R251P	.	417	1096	8	0	1	9	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199913970	0.0019	0.0034	0.0019	0.0019	0.0036	0.0019	0.0018	0.0023	0.0019	0.0010	0.0024	0.0088	0	0.0006	0.0036	0.0019	0.0030	0.0007	0.0032	0.0048	0.0035	0.0030	0.0045	0.0030	0.0029	0.0041	0.0039	0.0015	0	0.0042	0.0114	0	0.0003	0.0137	0.0045	0.0043	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	805.33	70	chr7	77052976	.	C	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.062;DP=1042;ExcessHet=0;FS=7.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.8;MQRankSum=-1.592;QD=6.66;ReadPosRankSum=0.65;SOR=1.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0:71:99:.:.:0,120,1800:.	18	0	1	0
chr7	77053168	77053168	T	G	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon5:c.A560C:p.D187A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314600040	3.832e-05	3.967e-05	3.54e-05	4.126e-05	8.117e-05	3.026e-05	2.72e-05	3.766e-05	2.671e-05	2.988e-05	0	0	0	0	0	3.957e-05	6.629e-05	8.117e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1517.33	70	chr7	77053168	.	T	G	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.464;DP=1089;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.55;MQRankSum=-4.187;QD=9.25;ReadPosRankSum=1.41;SOR=0.748	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr7	77060448	77060448	C	T	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon1:c.G65A:p.R22H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465339364	2.314e-05	2.463e-05	1.713e-05	2.931e-05	2.798e-05	1.674e-05	1.433e-05	1.714e-05	1.469e-05	0	0	0	2.798e-05	0	0	2.503e-05	3.459e-05	2.527e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1869.33	34	chr7	77060448	.	C	T	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=778;ExcessHet=0;FS=5.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.72;MQRankSum=-0.175;QD=12.63;ReadPosRankSum=0.378;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	18	0	1	0
chr7	77292997	77292997	A	T	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.A2461T:p.M821L	.	428	1050	41	3	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0008	0.00199681	0.0034	0	0.0016	0.0001	0	0.0015	0.0044	0.0173	0.0029042	449	154602	rs144507189	0.0019	0.0019	0.0015	0.0024	0.0181	0.0019	0.0019	0.0174	0.0171	0.0001	0.0016	0.0011	7.557e-05	0	0.0094	0.0009	0.0026	0.0181	0.0013	0.0013	0.0012	0.0015	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0013	0.0026	0	0	0.0034	0.0013	0.0019	0.0145	0.017	0.51248	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.595	0.75868	M	1.05	0.39990	T	-2.41	0.52938	N	0.6	0.61849	-0.4572	0.70161	T	0.292	0.66374	T	10	0.009073257	0.00205	T	.	.	.	0.304	0.62510	0.5	0.59147	0.478451964739	0.47474	0.41157083077869167	0.41073	0.596358103577	0.54880	0.53743326664	0.44083	T	0.100763	0.40687	T	-0.19223	0.21931	T	-0.0346211	0.68061	D	0.0755094731635753	0.09403	T	0.80032	0.44603	T	0.5057044	0.67429	0.50512016	0.71396	0.5057044	0.67430	0.50512016	0.71396	-7.85	0.60043	D	.	.	0.228	0.46073	B	.	.	4.348121	0.66758	25.0	0.98265455641230415	0.39703	0.96448	0.69189	D	AEFGCI	0.861843	0.77999	D	0.68435625978226	0.78606	6.905898	0.641971344388274	0.78014	6.791714	0.999998680789729	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.39	5.39	0.77615	8.348000	0.89968	9.276000	0.79675	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	14.236	0.65471	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.008772	0.000000	0.000000	0.024390	0.011364	0.05263	2466.83	33	chr7	77292997	.	A	T	2466.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.061;DP=801;ExcessHet=0.119;FS=1.088;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.246;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1214	17	0	2	0
chr7	80478989	80478989	G	A	exonic	GNAT3	.	stopgain	GNAT3:NM_001102386:exon4:c.C313T:p.R105X	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0003	0	0.0005	0	0.0002	0	6.758e-05	0.0001164	18	154602	rs200422530	5.018e-05	5.062e-05	3.691e-05	6.36e-05	0.0005	4.078e-05	3.752e-05	0.0002	0.0002	3.011e-05	0	0	0.0004	0	0.0005	4.51e-05	3.328e-05	3.525e-05	4.605e-05	4.598e-05	5.143e-05	4.041e-05	0.0002	2.111e-05	1.528e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0.0002	0	0	5.882e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.155700	0.17823	U	0.545369	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162318	0.70415	D	0.274817	0.86841	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.541004	0.96621	36	0.99186394124828658	0.54848	0.22177	0.21658	N	AEFDGBHCI	0.125399	0.24188	N	0.0858296356303696	0.45802	2.830729	-0.268663713100744	0.29136	1.63003	0.999999979645288	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.633917	0.49826	0	.	.	4.82	-0.122	0.12871	0.636000	0.24333	1.179000	0.24681	-0.148000	0.12190	0.000000	0.06391	0.001000	0.17328	0.818000	0.38543	0.0:0.203:0.4424:0.3546	8.399	0.31733	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1222.33	35	chr7	80478989	.	G	A	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.235;DP=714;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.11;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1228	18	0	1	0
chr7	80661160	80661160	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon3:c.T379C:p.S127P,CD36:NM_001289908:exon3:c.T379C:p.S127P,CD36:NM_001289911:exon3:c.T151C:p.S51P,CD36:NM_001127443:exon4:c.T379C:p.S127P,CD36:NM_001289909:exon4:c.T379C:p.S127P,CD36:NM_000072:exon5:c.T379C:p.S127P,CD36:NM_001001547:exon5:c.T379C:p.S127P,CD36:NM_001001548:exon5:c.T379C:p.S127P,CD36:NM_001371074:exon5:c.T379C:p.S127P,CD36:NM_001371075:exon5:c.T379C:p.S127P,CD36:NM_001371077:exon5:c.T379C:p.S127P,CD36:NM_001371078:exon5:c.T379C:p.S127P,CD36:NM_001371079:exon5:c.T277C:p.S93P	Platelet glycoprotein IV deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.122618071719	.	0.000199681	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001552	24	154602	rs548507859	9.715e-05	9.713e-05	3.54e-05	0.0002	0.0016	8.377e-05	7.916e-05	0.0014	0.0013	0	2.236e-05	0	0	0	0	0	3.312e-05	0.0016	5.253e-05	5.25e-05	3.855e-05	6.714e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.71	0.94693	H	-1.47	0.81067	T	-4.57	0.79659	D	0.924	0.92784	0.613	0.92065	D	0.718	0.90320	D	9	0.32257318	0.49605	T	0.122618	0.80363	D	0.759	0.91795	0.504	0.59770	0.730772972519	0.72837	0.9702179346075819	0.97010	3.66727572043E-4	0.00038	0.547559142113	0.45513	T	0.642981	0.89074	D	0.124339	0.66805	D	0.375749	0.91278	D	0.758425235748291	0.43761	D	0.960704	0.85303	D	0.9777109	0.98930	0.9428837	0.97955	0.97743285	0.98908	0.9265366	0.96855	-8.685	0.68568	D	0.8074400174434955	0.88304	0.985	0.95479	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.548574	0.71561	25.7	0.99470010004951548	0.66259	0.91843	0.54383	D	AEFBCI	0.945092	0.95297	D	0.524015699851156	0.68514	5.227665	0.370642986413853	0.59762	4.156762	0.999994656320743	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.959000	0.75826	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.0:0.0:0.0:1.0	14.339	0.66170	969	0.06854	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	47	chr7	80661160	.	T	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=839;ExcessHet=0;FS=5.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.729;SOR=1.268	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	80663008	80663008	C	T	exonic	CD36	.	stopgain	CD36:NM_001127444:exon4:c.C448T:p.Q150X,CD36:NM_001289908:exon4:c.C448T:p.Q150X,CD36:NM_001289911:exon4:c.C220T:p.Q74X,CD36:NM_001127443:exon5:c.C448T:p.Q150X,CD36:NM_000072:exon6:c.C448T:p.Q150X,CD36:NM_001001547:exon6:c.C448T:p.Q150X,CD36:NM_001001548:exon6:c.C448T:p.Q150X,CD36:NM_001371074:exon6:c.C448T:p.Q150X,CD36:NM_001371075:exon6:c.C448T:p.Q150X,CD36:NM_001371077:exon6:c.C448T:p.Q150X,CD36:NM_001371078:exon6:c.C448T:p.Q150X,CD36:NM_001371079:exon6:c.C346T:p.Q116X	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.363e-06	1.376e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539129	0.11555	N	0.786286	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.78832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.674841	0.92960	33	0.99444905932074756	0.64971	0.31490	0.24350	N	AEFCI	0.447379	0.50304	N	0.296369629643064	0.55964	3.760622	-0.0424440524151829	0.37820	2.219548	0.719866118457187	0.22919	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.06	3.19	0.35720	-0.055000	0.11763	-0.042000	0.12656	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.471000	0.28363	0.142:0.7214:0.1366:0.0	11.446	0.49369	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	622.33	34	chr7	80663008	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.519;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.08;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1068	18	0	1	0
chr7	80664457	80664457	A	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001371080:exon4:c.A196G:p.I66V,CD36:NM_001127444:exon5:c.A661G:p.I221V,CD36:NM_001289908:exon5:c.A661G:p.I221V,CD36:NM_001289909:exon5:c.A481G:p.I161V,CD36:NM_001289911:exon5:c.A433G:p.I145V,CD36:NM_001127443:exon6:c.A661G:p.I221V,CD36:NM_000072:exon7:c.A661G:p.I221V,CD36:NM_001001547:exon7:c.A661G:p.I221V,CD36:NM_001001548:exon7:c.A661G:p.I221V,CD36:NM_001371074:exon7:c.A661G:p.I221V,CD36:NM_001371075:exon7:c.A661G:p.I221V,CD36:NM_001371077:exon7:c.A661G:p.I221V,CD36:NM_001371078:exon7:c.A661G:p.I221V,CD36:NM_001371079:exon7:c.A559G:p.I187V,CD36:NM_001371081:exon7:c.A196G:p.I66V	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00955971203294	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs747606498	1.956e-05	2.463e-05	1.673e-05	2.24e-05	0.0004	1.356e-05	1.168e-05	6.198e-05	2.56e-05	0	2.241e-05	0	0	0	0.0004	1.659e-05	8.415e-05	2.337e-05	1.315e-05	1.314e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.216	0.20230	T	0.143	0.42086	T	0.039	0.21116	B	0.094	0.30180	B	0.000000	0.84330	N	0.044092	0.998087	0.44492	D	2.6	0.76081	M	-0.69	0.72678	T	-0.36	0.16598	N	0.406	0.45709	-0.7732	0.56681	T	0.279	0.65129	T	9	0.2876455	0.46347	T	0.00956	0.25016	T	0.131	0.35738	0.677	0.81496	0.277317399466	0.27352	0.7459692388691413	0.74542	4.03417366996E-4	0.00045	0.362220704556	0.19709	T	0.075591	0.35214	T	-0.139056	0.30042	T	-0.30707	0.43972	T	0.0597249390959917	0.07125	T	0.828517	0.49813	T	0.33171618	0.55611	0.14658459	0.34721	0.33171618	0.55611	0.14658459	0.34720	-4.342	0.35419	T	0.33627854370744503	0.43418	0.127	0.32493	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.242378	0.16382	12.50	0.96570363766260792	0.30293	0.82096	0.41377	D	AEFBCI	0.641502	0.61881	D	-0.213720178573552	0.32571	1.838248	-0.12685213493	0.34311	1.972278	0.993322777010448	0.33171	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.64	3.31	0.37025	2.952000	0.48790	0.091000	0.14516	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.370000	0.26111	0.8484:0.0:0.1516:0.0	8.977	0.35103	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1890.33	37	chr7	80664457	.	A	G	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.829;DP=758;ExcessHet=0;FS=3.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.171;SOR=0.794	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1255	18	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	236.83	35	chr7	80674068	.	T	C	236.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.136;DP=1112;ExcessHet=0.119;FS=109.215;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.09;SOR=9.419	GT:AD:DP:GQ:PL	0/0:92,25:117:28:0,28,1913	17	0	2	0
chr7	82915834	82915834	T	C	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon7:c.A12152G:p.D4051G,PCLO:NM_033026:exon7:c.A12152G:p.D4051G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.13425023729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	.	.	.	0.35	0.58029	T	-6.41	0.93217	D	0.899	0.98929	-0.2936	0.75164	T	0.355	0.71774	T	9	0.9127822	0.90642	D	0.13425	0.81667	D	0.753	0.91541	.	.	0.884529282836	0.88339	0.7596725611559935	0.75915	0.0432846500814	0.04663	0.791843295097	0.80722	T	.	.	.	0.328737	0.85077	D	0.234432	0.84882	D	0.964342474937439	0.66929	D	0.955504	0.84924	D	0.6487821	0.75299	0.75432044	0.85480	0.6487821	0.75300	0.75432044	0.85481	-9.81	0.72766	D	.	.	0.533	0.72943	A	.;.;.	.;.;.	3.359800	0.46376	22.3	0.99765885198503435	0.85500	0.98638	0.84997	D	AEFBI	0.940963	0.94361	D	0.827135507310657	0.87769	9.334795	0.81355289263266	0.90720	10.53709	0.999983997153801	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	8.017000	0.88732	7.957000	0.75973	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.227	0.82128	874	0.30607	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2426.33	33	chr7	82915834	.	T	C	2426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=843;ExcessHet=0;FS=5.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.821;SOR=0.926	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	18	0	1	0
chr7	82949821	82949821	G	C	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C10767G:p.D3589E,PCLO:NM_033026:exon6:c.C10767G:p.D3589E	.	.	.	.	.	.	.	.	.	.	.	1652652	PCLO-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00261767153058	0.0021	0.00299521	0.0006	0.0062	0.0010	0	0	2.998e-05	0	0	0.0006274	97	154602	rs149879954	0.0002	0.0002	0.0003	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	0.0011	0	0	5.618e-05	0.0002	8.095e-06	0.0006	2.319e-05	0.0021	0.0021	0.0021	0.0019	0.0069	0.0019	0.0018	0.0062	0.0060	0.0069	0	0.0012	0	0	0	0	4.411e-05	0.0024	0	0.496	0.07846	T	1.0	0.04603	T	0.75	0.43260	P	0.321	0.41760	B	.	.	.	.	0.547387	0.32104	D	.	.	.	2.66	0.12575	T	-1.2	0.30555	N	0.341	0.38232	-1.0565	0.12646	T	0.018	0.07234	T	9	0.008528382	0.00193	T	0.002618	0.05320	T	0.063	0.18251	.	.	0.239312915715	0.23560	0.2738981086117632	0.27302	0.0348790761822	0.03674	0.660168945789	0.61433	T	.	.	.	-0.524029	0.00417	T	-0.522479	0.20045	T	0.0178826791749702	0.00515	T	0.715328	0.56597	T	0.079063244	0.18042	0.090341285	0.21181	0.079063244	0.18042	0.090341285	0.21180	-3.126	0.11597	T	.	.	0.182	0.40295	B	.;.;.	.;.;.	2.983788	0.39815	21.0	0.45170909459622283	0.03526	0.92734	0.56415	D	AEFBI	0.576734	0.57861	D	0.0941232643451896	0.46187	2.863122	0.221404153343491	0.51035	3.289772	7.33231038183481E-4	0.07723	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	4.82	0.61641	2.582000	0.45751	9.869000	0.82114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.178:0.0:0.6291:0.1929	4.478	0.11164	888	0.27761	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2309.33	33	chr7	82949821	.	G	C	2309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=863;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.488;SOR=0.829	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	82951071	82951071	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C9517T:p.L3173F,PCLO:NM_033026:exon6:c.C9517T:p.L3173F	.	.	.	.	.	.	.	.	.	.	.	1483890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00429554454332	8.2e-05	0.000599042	9.179e-05	0	8.75e-05	0.0006	0	6.037e-05	0	6.103e-05	9.06e-05	14	154602	rs140332141	5.884e-05	5.883e-05	5.173e-05	6.602e-05	0.0012	4.877e-05	4.497e-05	0.0010	0.0009	0	0.0002	0	0.0012	0	0	1.259e-05	0.0001	0.0001	0.0002	0.0002	0.0003	0.0001	0.0014	0.0001	0.0001	0.0007	0.0006	2.405e-05	0	0.0011	0	0.0014	0	0	0	0.0014	0	0.012	0.55530	D	0.383	0.15842	T	0.047	0.21998	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	-2.18	0.49187	N	0.219	0.24510	-0.9779	0.35481	T	0.025	0.10866	T	9	0.023579389	0.00621	T	0.004296	0.10404	T	0.059	0.16972	.	.	0.110392049598	0.10638	0.4052033385504438	0.40436	0.0382972999509	0.04077	0.374280750751	0.21443	T	.	.	.	-0.513346	0.00480	T	-0.632432	0.10231	T	0.0331903534374123	0.02503	T	0.642936	0.26018	T	0.11874479	0.27973	0.22552694	0.47500	0.11874479	0.27972	0.22552694	0.47499	-5.344	0.40376	T	.	.	0.068	0.02797	B	.;.	.;.	2.305737	0.29507	18.15	0.92366393700038507	0.21770	0.26336	0.22964	N	AEFDBI	.	.	.	-0.295476564374107	0.29323	1.625053	-0.203698962968483	0.31404	1.776882	0.00140846876063466	0.08512	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.57	3.63	0.40741	2.463000	0.44715	5.181000	0.47864	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.987000	0.62547	0.1827:0.1276:0.503:0.1867	1.984	0.03224	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1829.33	33	chr7	82951071	.	G	A	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=798;ExcessHet=0;FS=3.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.49;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	82955134	82955134	A	G	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.T5819C:p.V1940A,PCLO:NM_033026:exon5:c.T5819C:p.V1940A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00503637536144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.988e-05	0.0008	0.0001	6.489e-05	0.0001	8.613e-05	8.139e-05	0.0001	9.919e-05	6.116e-05	0	7.739e-05	2.532e-05	1.876e-05	0	0.0001	5.073e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.16738	T	0.689	0.06713	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.841799	0.28620	N	.	.	.	2.37	0.15964	T	-0.86	0.23372	N	0.161	0.16864	-1.1000	0.04091	T	0.034	0.14639	T	9	0.055983305	0.06203	T	0.005036	0.12722	T	0.036	0.09122	0.229	0.15556	0.082315109003	0.07666	0.2211493867221283	0.22029	0.0408442198111	0.04386	0.307065427303	0.11463	T	.	.	.	-0.293286	0.09308	T	-0.659062	0.08329	T	0.0645057335495949	0.07857	T	0.50395	0.15873	T	0.08804871	0.20528	0.1128583	0.27234	0.08804871	0.20527	0.1128583	0.27233	-3.687	0.19127	T	.	.	0.154	0.33981	B	.;.	.;.	2.624131	0.34107	19.53	0.93578451478470703	0.23424	0.52198	0.29075	D	AEFHCI	0.193031	0.32016	N	-0.227058754292087	0.32027	1.801898	-0.0721877402814723	0.36545	2.128139	0.0971982074694305	0.16273	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	4.41	0.52588	1.949000	0.39938	7.118000	0.57587	0.756000	0.94297	0.838000	0.30254	1.000000	0.68203	0.997000	0.79791	0.8516:0.0:0.1484:0.0	8.547	0.32591	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	41.33	78	chr7	82955134	.	A	G	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.677;DP=1808;ExcessHet=0;FS=109.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=-0.652;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,19:140:55:0|1:82955133_C_G:55,0,4533:82955133	18	0	1	0
chr7	82955677	82955677	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5276A:p.R1759Q,PCLO:NM_033026:exon5:c.G5276A:p.R1759Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.00556157665291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959718398	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	1.873e-05	0.0002	5.396e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.003	0.68238	D	0.014	0.69154	D	1.0	0.90584	D	0.947	0.68407	D	.	.	.	.	0.972296	0.38935	D	.	.	.	1.69	0.27032	T	-3.27	0.65512	D	0.805	0.80083	-0.9889	0.32878	T	0.103	0.37919	T	9	0.61454415	0.67631	D	0.005562	0.14349	T	0.296	0.61616	0.12	0.02719	0.614425270908	0.61131	0.07654644654567784	0.07590	0.0397582316544	0.04249	0.598177373409	0.52647	T	.	.	.	-0.0129165	0.49855	T	-0.159476	0.58399	T	0.582097850882153	0.35699	D	0.999736	0.99939	D	0.35886255	0.57749	0.41968146	0.65954	0.35886255	0.57749	0.41968146	0.65954	-9.437	0.70467	D	.	.	0.404	0.59788	A	.;.	.;.	3.517838	0.49300	22.8	0.99108918608595531	0.52674	0.87218	0.46692	D	AEFBI	0.419305	0.48658	N	0.539370119212796	0.69436	5.356776	0.578500454256428	0.73400	5.96443	0.884947274167912	0.25706	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	3.868000	0.55768	5.987000	0.52266	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	19.521	0.95177	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1798.33	36	chr7	82955677	.	C	T	1798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=864;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.288;SOR=0.579	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1800	18	0	1	0
chr7	83155272	83155272	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.G1369A:p.G457R,PCLO:NM_033026:exon2:c.G1369A:p.G457R	.	428	1073	19	2	0	23	0.010604	.	.	.	700246	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.00239617	0.0041	0.0003	0.0029	0	0.0003	0.0041	0.0022	0.0107	0.0038357	593	154602	rs144574814	0.0046	0.0046	0.0044	0.0048	0.0160	0.0045	0.0044	0.0133	0.0124	0.0006	0.0024	0.0185	0	0.0003	0.0160	0.0042	0.0056	0.0113	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0112	0.0103	0.0009	0	0.0019	0.0196	0	0.0002	0.0170	0.0038	0.0057	0.0139	0.433	0.09458	T	0.025	0.56192	D	0.157	0.28234	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15964	T	-1.08	0.28084	N	0.211	0.23506	-1.0117	0.26385	T	0.026	0.10998	T	9	0.0049199164	0.00105	T	.	.	.	0.042	0.11227	0.31	0.28289	0.0675242888579	0.06100	0.0882736804711831	0.08760	0.265799251449	0.29129	0.24127009511	0.02906	T	.	.	.	-0.691899	0.00041	T	-0.75868	0.03160	T	0.00888627188882829	0.00110	T	0.645335	0.25688	T	0.03834431	0.05089	0.057530824	0.10473	0.038431603	0.05118	0.06815152	0.14193	-8.652	0.65431	D	.	.	0.236	0.46927	B	.;.	.;.	1.252155	0.16489	12.57	0.89555626376048347	0.18898	0.11480	0.16662	N	AEFI	0.115531	0.22712	N	-0.914395105151028	0.10505	0.5023057	-0.99146945926259	0.09976	0.4995761	9.88023819527639E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.77	-0.0247	0.13263	0.751000	0.26013	-2.306000	0.03922	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5446:0.0:0.4554	7.943	0.29131	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.017544	0.050000	0.008621	0.006098	0.011364	0.02632	971.33	42	chr7	83155272	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=1020;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.604;SOR=0.861	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,118,1800	18	0	1	0
chr7	87173562	87173562	A	G	exonic	DMTF1	.	nonsynonymous SNV	DMTF1:NM_001142326:exon5:c.A91G:p.I31V,DMTF1:NM_001142327:exon6:c.A355G:p.I119V,DMTF1:NM_021145:exon8:c.A355G:p.I119V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00792590766219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	8.209e-06	8.189e-06	5.514e-06	8.108e-06	3.47e-06	2.53e-06	3.82e-06	2.76e-06	0	0	0	0	0	0	8.108e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	0.18122	T	0.837	0.03642	T	0.0	0.02946	B	0.0	0.01387	B	0.000504	0.43753	D	0.285031	0.855804	0.81001	D	1.445	0.36358	L	0.96	0.43279	T	0.09	0.10656	N	0.19	0.20793	-1.0769	0.07962	T	0.070	0.28511	T	10	0.09751955	0.17569	T	0.007926	0.21033	T	0.067	0.19503	0.325	0.30711	0.278932316844	0.27492	0.17263982991340251	0.17183	0.244311134851	0.26933	0.478528439999	0.35855	T	0.028666	0.20712	T	-0.237142	0.15715	T	-0.578415	0.14686	T	0.374266852655916	0.27962	T	0.645735	0.25721	T	0.03974199	0.05543	0.04327997	0.05349	0.03974199	0.05543	0.04327997	0.05349	-2.394	0.06949	T	0.1358078947642167	0.14796	0.087	0.16363	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.691893	0.21554	15.25	0.94731220054877474	0.25412	0.91844	0.54385	D	AEDBIJ	0.184755	0.31208	N	-0.196126603549012	0.33295	1.887344	0.0270933743071037	0.40977	2.454234	0.995858693198135	0.34367	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	4.7	0.58776	2.724000	0.46956	3.035000	0.36058	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9223:0.0:0.0777:0.0	11.998	0.52506	482	0.77288	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	76	chr7	87173562	.	A	G	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=691;ExcessHet=0;FS=4.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.921;SOR=1.341	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	18	0	1	0
chr7	87188223	87188223	G	T	exonic	DMTF1	.	nonsynonymous SNV	DMTF1:NM_001142326:exon12:c.G1069T:p.A357S,DMTF1:NM_001142327:exon13:c.G1333T:p.A445S,DMTF1:NM_021145:exon15:c.G1333T:p.A445S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0190496322505	0.0009	0.00139776	0.0003	0.0028	0.0003	0	0	0	0	6.056e-05	0.0002587	40	154602	rs146399689	0.0001	0.0001	0.0001	9.764e-05	0.0034	9.116e-05	8.646e-05	0.0029	0.0027	0.0034	0.0002	0	0	0	0	8.994e-07	0.0004	5.797e-05	0.0008	0.0008	0.0009	0.0008	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.47e-05	0	0.0004	0.004	0.78490	D	0.072	0.44702	T	0.787	0.44504	P	0.248	0.38946	B	0.000085	0.51296	D	0.196417	0.999487	0.81001	D	0.895	0.22405	L	0.74	0.50459	T	-0.1	0.08809	N	0.424	0.47949	-1.0955	0.04681	T	0.045	0.19397	T	10	0.006762713	0.00153	T	0.01905	0.41305	T	0.096	0.27654	.	.	0.182106788282	0.17826	0.306310345189432	0.30544	0.138138426082	0.15575	0.455259203911	0.32663	T	0.034875	0.23497	T	-0.378971	0.03162	T	-0.32238	0.42312	T	0.0372285358639343	0.03197	T	0.914708	0.69569	D	0.17460538	0.38274	0.16003174	0.37294	0.17460538	0.38274	0.16003174	0.37293	-3.566	0.18539	T	0.17748277437620932	0.22699	0.099	0.21691	B	.;.;.	.;.;.	3.168147	0.42956	21.6	0.9965066600601038	0.77254	0.96922	0.71675	D	AEFDBHCI	0.612000	0.60024	D	0.215925131014895	0.51970	3.374375	0.360495031026542	0.59142	4.08969	0.999997508297914	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	5.191000	0.64948	11.900000	0.99328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.910	0.92453	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1729.33	39	chr7	87188223	.	G	T	1729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=771;ExcessHet=0;FS=4.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.05;SOR=0.413	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1307	18	0	1	0
chr7	87381958	87381958	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon11:c.G1027A:p.D343N,CROT:NM_001143935:exon12:c.G1111A:p.D371N	.	451	1070	1	0	0	1	0.000467071	.	.	.	2672711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.0504303391021	7.7e-05	.	7.475e-05	0	0	0	0	9.068e-05	0.0011	0.0001	5.82e-05	9	154602	rs201754021	7.678e-05	7.661e-05	8.183e-05	7.167e-05	0.0007	6.504e-05	6.083e-05	0.0002	0.0001	0	2.241e-05	0	0	0	0.0007	9.095e-05	6.634e-05	2.341e-05	5.253e-05	5.25e-05	6.425e-05	4.029e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	2.405e-05	0	0	0	0	0	0.0034	8.823e-05	0	0	0.446	0.09101	T	0.35	0.17478	T	0.009	0.15093	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	-2.48	0.89071	D	-1.05	0.27463	N	0.367	0.40864	-0.1733	0.78347	T	0.569	0.84404	D	10	0.2553631	0.42927	T	0.05043	0.64240	D	0.346	0.66769	.	.	0.805041889666	0.80321	0.7385355380686064	0.73798	0.0270564746845	0.02765	0.446804791689	0.31507	T	0.194019	0.54967	T	-0.0956672	0.37142	T	-0.189292	0.55657	T	0.0828937664628029	0.10353	T	0.754025	0.37642	T	0.44757488	0.63888	0.37468627	0.62629	0.44757488	0.63888	0.37468627	0.62628	-7.351	0.58073	T	.	.	0.212	0.60931	B	.;.;.	.;.;.	2.973439	0.39636	21.0	0.99190887039898445	0.54965	0.97393	0.74464	D	AEFBCI	0.789880	0.71894	D	0.00121784298903509	0.41910	2.515456	0.194883082937241	0.49566	3.158254	0.999999994904025	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	6.252000	0.72400	6.700000	0.56368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.421	0.94714	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3061.81	35	chr7	87381958	.	G	A	3061.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.57;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	18	1	0	0
chr7	87382456	87382456	G	C	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon13:c.G1214C:p.G405A,CROT:NM_001143935:exon14:c.G1298C:p.G433A	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.966	0.53457143766	.	0.000399361	0.0001	0	0	0	0	3.004e-05	0	0.0009	0.0001229	19	154602	rs550173790	7.8e-05	7.798e-05	3.54e-05	0.0001	0.0009	6.601e-05	6.143e-05	0.0007	0.0007	0	0	0	0	1.873e-05	0.0007	2.069e-05	0.0001	0.0009	3.943e-05	3.938e-05	1.286e-05	6.719e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.05	0.97045	H	-5.18	0.98824	D	-5.3	0.84387	D	0.942	0.96984	1.048	0.98067	D	0.983	0.99469	D	10	0.95088804	0.94425	D	0.534571	0.95638	D	0.966	0.99545	0.951	0.99428	0.952249981539	0.95174	0.9252915045689676	0.92506	0.213525769304	0.23869	0.57022601366	0.48710	T	0.886056	0.97648	D	0.278158	0.81159	D	0.57043	0.96231	D	0.523753061078761	0.33503	D	0.953705	0.82322	D	0.8488408	0.87250	0.8585619	0.92081	0.8488408	0.87251	0.8585619	0.92081	-10.533	0.78252	D	.	.	0.719	0.80183	P	.;.;.	.;.;.	5.020275	0.83434	28.0	0.99848925909396136	0.92838	0.99111	0.91387	D	AEFGBI	0.909591	0.86643	D	1.05208667083007	0.97139	15.64767	0.976045759910094	0.98108	17.44581	0.999999995265677	0.74766	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	8.725000	0.91200	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.095	0.97834	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1888.33	33	chr7	87382456	.	G	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=832;ExcessHet=0;FS=2.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.381;SOR=0.895	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	87550733	87550733	T	C	exonic	ABCB1	.	nonsynonymous SNV	ABCB1:NM_001348946:exon10:c.A1105G:p.I369V,ABCB1:NM_000927:exon11:c.A1105G:p.I369V,ABCB1:NM_001348944:exon12:c.A1105G:p.I369V,ABCB1:NM_001348945:exon14:c.A1315G:p.I439V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0136768775218	0.0002	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0002199	34	154602	rs199766539	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0	0	0	5.618e-05	0	0.0004	0.0001	1.16e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0	0	0	0.0003	0	0.0003	0	0	0.007	0.59928	D	0.022	0.57587	D	0.034	0.20480	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.87	0.46412	T	-0.79	0.21860	N	0.305	0.40765	-0.9068	0.47238	T	0.097	0.36445	T	10	0.14666826	0.27804	T	0.013677	0.33266	T	0.246	0.55340	.	.	0.24933006939	0.24537	0.633206665522202	0.63254	0.203613360482	0.22774	0.417736291885	0.27526	T	.	.	.	-0.325326	0.06471	T	-0.280618	0.46741	T	0.188053298617627	0.19729	T	0.809419	0.45992	T	0.4907521	0.66548	0.17426954	0.39811	0.4907521	0.66548	0.17426954	0.39810	-8.773	0.66224	D	.	.	0.158	0.35705	B	.;.;.	.;.;.	3.127647	0.42246	21.5	0.99803066854420364	0.88728	0.98920	0.88639	D	AEFBI	0.846927	0.76379	D	0.361849897730054	0.59369	4.115632	0.493831189418721	0.67580	5.103142	0.999999989910929	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	6.17	6.17	0.99707	6.200000	0.72046	5.010000	0.46663	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.822	0.85699	547	0.72440	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1325.33	43	chr7	87550733	.	T	C	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=834;ExcessHet=0;FS=7.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.708;SOR=0.709	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1248	18	0	1	0
chr7	87628893	87628893	C	A	exonic	RUNDC3B	.	nonsynonymous SNV	RUNDC3B:NM_001134405:exon1:c.C70A:p.L24M,RUNDC3B:NM_001134406:exon1:c.C70A:p.L24M,RUNDC3B:NM_138290:exon1:c.C70A:p.L24M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0288607930194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.685e-07	4.104e-06	1.664e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.175e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.30656	T	0.232	0.24987	T	0.984	0.60733	D	0.969	0.72001	D	0.278191	0.14995	N	0.620433	1	0.81001	D	0	0.06538	N	2.43	0.15261	T	-0.12	0.08809	N	0.241	0.29889	-1.0661	0.10293	T	0.041	0.17785	T	10	0.14539555	0.27580	T	0.028861	0.51467	D	0.107	0.30369	0.258	0.20002	0.339793275041	0.33585	0.19487279323648313	0.19405	0.160014579541	0.18050	0.859219312668	0.90995	D	0.028227	0.20494	T	-0.195193	0.21501	T	-0.518158	0.20482	T	0.503414332866669	0.32754	D	0.637136	0.29438	T	0.10071139	0.23784	0.11534926	0.27846	0.10071139	0.23783	0.11534926	0.27845	-5.401	0.40996	T	.	.	0.115	0.24088	B	.;.;.	.;.;.	2.332871	0.29889	18.27	0.97688071450716529	0.35358	0.49119	0.28361	N	AEFDBCIJ	0.164869	0.29130	N	-0.0199432257900124	0.40954	2.441086	-0.0138987134207908	0.39085	2.312238	0.995179549355318	0.33988	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.23	2.43	0.28797	0.155000	0.16180	1.210000	0.24900	-0.182000	0.10109	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.0:0.7757:0.0:0.2243	6.390	0.20784	630	0.65016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	24	chr7	87628893	.	C	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=674;ExcessHet=0;FS=6.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.35;SOR=1.277	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1163	18	0	1	0
chr7	87897334	87897334	G	A	exonic	DBF4	.	startloss	DBF4:NM_001318061:exon8:c.G3A:p.M1?,DBF4:NM_006716:exon8:c.G675A:p.M225I	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00488380157939	0.0063	0.00179712	0.0057	0.0011	0.0022	0	0.0076	0.0086	0.0066	0.0017	0.0054656	845	154602	rs61758726	0.0069	0.0070	0.0071	0.0067	0.0076	0.0068	0.0068	0.0074	0.0074	0.0013	0.0039	0.0215	2.529e-05	0.0063	0.0012	0.0076	0.0076	0.0013	0.0062	0.0062	0.0061	0.0062	0.0091	0.0058	0.0057	0.0079	0.0077	0.0014	0	0.0091	0.0193	0	0.0079	0	0.0085	0.0033	0.0012	0.26	0.16574	T	0.483	0.11795	T	0.0	0.02946	B	0.001	0.04355	B	0.605952	0.05673	N	1.175560	1	0.08975	N	1.74	0.45129	L	2.82	0.10871	T	-0.75	0.21003	N	0.253	0.28616	-0.9478	0.41347	T	0.017	0.06855	T	10	0.0051734746	0.00112	T	0.004884	0.12255	T	0.022	0.04323	0.272	0.22210	0.283272178027	0.27931	0.19155782982047556	0.19073	0.165430239259	0.18659	0.274327099323	0.06713	T	0.026104	0.19387	T	-0.632733	0.00092	T	-0.675114	0.07284	T	0.00153893151557147	0.00016	T	0.480052	0.14488	T	0.26268485	0.49331	0.23954901	0.49306	0.26268485	0.49331	0.23954901	0.49305	-3.076	0.11022	T	.	.	0.129	0.27463	B	.	.	0.698516	0.10673	7.369	0.82595407692584066	0.14274	0.02206	0.06433	N	AEFBI	0.021725	0.01000	N	-1.03352269201058	0.07915	0.3693176	-1.03550254881733	0.09011	0.4460105	0.337346825716218	0.19548	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.34	-1.61	0.07951	-0.300000	0.08280	0.943000	0.22867	-0.200000	0.08971	0.001000	0.13787	0.097000	0.22620	0.979000	0.57723	0.3786:0.2231:0.3983:0.0	6.448	0.21089	579	0.69780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1117.33	33	chr7	87897334	.	G	A	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.326;DP=790;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.23;SOR=0.824	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1358	18	0	1	0
chr7	88282672	88282672	C	A	exonic	STEAP4	.	nonsynonymous SNV	STEAP4:NM_024636:exon3:c.G953T:p.R318L,STEAP4:NM_001205315:exon4:c.G953T:p.R318L	.	424	1095	3	0	0	3	0.00136799	.	.	.	700273	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.484	.	0.0080	0.00399361	0.0068	0.0023	0.0073	0	0.0074	0.0092	0.0056	0.0030	0.0068951	1066	154602	rs73205916	0.0085	0.0085	0.0087	0.0083	0.0098	0.0084	0.0083	0.0097	0.0096	0.0017	0.0072	0.0021	0	0.0064	0.0023	0.0098	0.0075	0.0028	0.0066	0.0066	0.0070	0.0063	0.0100	0.0063	0.0062	0.0094	0.0091	0.0021	0.0055	0.0086	0.0012	0	0.0066	0.0136	0.0100	0.0052	0.0027	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000199	0.48115	N	0.168688	0.937781	0.26881	N	3.29	0.90338	M	-2.81	0.91134	D	-5.53	0.86073	D	0.5	0.53269	0.337	0.88130	D	0.804	0.93376	D	10	0.010172397	0.00227	T	.	.	.	0.484	0.77335	.	.	0.952351160866	0.95185	0.8280759609159314	0.82765	0.383352055737	0.39662	0.431262522936	0.29380	T	0.57205	0.85846	D	-0.280292	0.10637	T	-0.168289	0.57599	T	0.0387247722034874	0.03461	T	0.919108	0.72277	D	0.6471158	0.75210	0.6499894	0.79523	0.6471158	0.75211	0.6499894	0.79524	-3.871	0.21869	T	.	.	0.398	0.59488	A	.;.	.;.	3.875536	0.56290	23.7	0.9979692040800936	0.88194	0.81334	0.40759	D	AEFI	0.312070	0.41761	N	0.525838392893618	0.68622	5.24269	0.432501523744406	0.63602	4.597142	0.710084547913802	0.22808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	4.25	0.49658	3.417000	0.52471	3.258000	0.37072	0.549000	0.26987	0.869000	0.30776	1.000000	0.68203	0.903000	0.43903	0.1308:0.8029:0.0:0.0663	10.967	0.46629	886	0.28090	Ferric reductase transmembrane component-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1469.33	37	chr7	88282672	.	C	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.893;DP=766;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.46;SOR=0.573	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1468	18	0	1	0
chr7	88760025	88760025	T	C	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon1:c.T49C:p.Y17H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0110375439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.988	0.77976	D	0.002796	0.35935	N	0.000000	0.950349	0.37691	D	0.55	0.14455	N	3.21	0.07125	T	-2.06	0.47175	N	0.808	0.80375	-1.0326	0.19618	T	0.037	0.15856	T	10	0.68155414	0.71310	D	0.011038	0.28250	T	0.222	0.51872	0.411	0.44723	0.1749357433	0.17121	0.43984108446565895	0.43901	0.295617637579	0.31967	0.809829473495	0.83466	D	0.069234	0.33658	T	-0.069114	0.41469	T	-0.337054	0.40678	T	0.980498731136322	0.73390	D	0.761424	0.38629	T	0.37237462	0.58760	0.61711323	0.77707	0.37237462	0.58761	0.61711323	0.77708	-2.895	0.09094	T	.	.	0.948	0.86699	P	.	.	4.996662	0.82880	27.9	0.99821587551302193	0.90414	0.91231	0.53118	D	AEFBCI	0.783738	0.71463	D	0.516863145539173	0.68086	5.169131	0.553392917516411	0.71634	5.684739	0.999959816253622	0.48110	0.455138	0.09556	0	0.563428	0.19063	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	5.08	5.08	0.68373	5.628000	0.67466	7.591000	0.61250	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.996	0.71087	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2820.33	33	chr7	88760025	.	T	C	2820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.055;DP=915;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.426;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	18	0	1	0
chr7	89335749	89335749	C	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.C2767G:p.L923V	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00384679751228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.272	0.66756	T	0.583	0.38873	P	0.109	0.31370	B	0.020302	0.27067	N	0.260668	0.99998	0.18612	N	1.765	0.45800	L	3.46	0.05249	T	-1.34	0.33401	N	0.059	0.03069	-0.9593	0.39311	T	0.011	0.04227	T	10	0.11104825	0.20779	T	0.003847	0.09024	T	0.054	0.15330	0.135	0.03920	0.221019684889	0.21715	0.12032134268247027	0.11959	0.0503481169464	0.05528	0.267125964165	0.05769	T	0.002504	0.01894	T	-0.305289	0.08170	T	-0.676303	0.07211	T	0.18464994430542	0.19524	T	0.613939	0.23413	T	0.07457902	0.16745	0.071763344	0.15404	0.07457902	0.16745	0.071763344	0.15404	-4.214	0.26954	T	.	.	0.078	0.11606	B	.;.	.;.	-0.080804	0.03758	0.782	0.73559674794387908	0.10372	0.19055	0.20510	N	AEFI	0.120080	0.23408	N	-0.620344253306381	0.18334	0.9510095	-0.688599269384154	0.17245	0.9161047	4.19190075181907E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	2.55	0.29757	-0.077000	0.11356	-0.947000	0.06827	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.050000	0.15192	0.1254:0.5464:0.1216:0.2065	3.103	0.05951	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	45	chr7	89335749	.	C	G	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1114;ExcessHet=0;FS=1.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.157;SOR=0.931	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr7	89336887	89336887	C	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.C3905G:p.P1302R	.	.	.	.	.	.	.	.	.	.	.	3945566	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.00611345966053	.	.	4.119e-05	0	0	0	0	5.994e-05	0	6.057e-05	3.88e-05	6	154602	rs751245503	1.915e-05	1.915e-05	1.77e-05	2.063e-05	0.0019	1.328e-05	1.144e-05	0.0011	0.0008	2.987e-05	4.472e-05	0	0	0	0.0019	8.993e-06	4.967e-05	1.159e-05	2.63e-05	2.627e-05	2.57e-05	2.691e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.002	0.72154	D	0.055	0.65728	T	0.999	0.77913	D	0.916	0.65201	D	0.000309	0.45977	D	0.097154	0.999275	0.46519	D	2.36	0.67893	M	3.4	0.05642	T	-2.88	0.60507	D	0.808	0.80375	-1.2272	0.00035	T	0.053	0.22462	T	10	0.2948339	0.47054	T	0.006113	0.15993	T	0.223	0.52023	0.34	0.33141	0.392395365052	0.38849	0.4594883295027365	0.45866	0.263660577288	0.28920	0.367803514004	0.20516	T	0.020053	0.15857	T	0.0331039	0.56136	T	-0.00992903	0.69690	D	0.8000248670578	0.46355	D	0.765223	0.39255	T	0.43791628	0.63268	0.42006648	0.65981	0.43791628	0.63268	0.42006648	0.65981	-7.205	0.55517	T	.	.	0.183	0.39782	B	.;.	.;.	4.469377	0.69627	25.4	0.99853948058490505	0.93279	0.99275	0.93809	D	AEFI	0.585295	0.58377	D	0.722232946797895	0.81089	7.441425	0.721470354611192	0.84008	8.174139	0.99999887335074	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	3.295000	0.51501	7.493000	0.59393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.381	0.94526	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3133.33	45	chr7	89336887	.	C	G	3133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=1014;ExcessHet=0;FS=0.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.05;SOR=0.728	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	18	0	1	0
chr7	90277073	90277073	G	C	exonic	CFAP69	.	nonsynonymous SNV	CFAP69:NM_001039706:exon10:c.G985C:p.E329Q,CFAP69:NM_001160138:exon10:c.G931C:p.E311Q,CFAP69:NM_001363438:exon10:c.G985C:p.E329Q	.	1092	428	2	0	0	2	0.002331	0.9999	0.974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0299966657819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.113e-07	6.841e-07	0	1.434e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.726e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.74	0.50459	T	-1.93	0.45404	N	0.729	0.73015	-0.4946	0.68843	T	0.325	0.69376	T	9	0.71325606	0.73181	D	0.029997	0.52399	D	0.157	0.40909	0.315	0.29096	0.604632981478	0.60146	0.33400020485790866	0.33313	0.394287068482	0.40586	.	.	.	0.091573	0.38824	T	0.108223	0.65166	D	-0.0823214	0.64733	T	0.980494856834412	0.73390	D	0.871313	0.57716	D	0.5528909	0.70116	0.56103694	0.74601	0.5528909	0.70117	0.56103694	0.74602	-5.648	0.43658	T	.	.	0.198	0.46688	B	.;.	.;.	5.169149	0.86639	29.0	0.99769890521190241	0.85834	0.99149	0.91949	D	AEFI	0.908533	0.86396	D	0.903263687288621	0.91917	11.13465	0.874784964568456	0.94376	12.71365	0.999999998628383	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	5.5	0.81386	7.792000	0.84405	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.569	0.91081	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	21	chr7	90277073	.	G	C	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.185;DP=588;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-1.111;SOR=0.636	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,815	18	0	1	0
chr7	91874077	91874077	A	-	exonic	MTERF1	.	frameshift deletion	MTERF1:NM_001301134:exon2:c.657delT:p.F219Lfs*7,MTERF1:NM_006980:exon3:c.717delT:p.F239Lfs*7,MTERF1:NM_001301135:exon4:c.657delT:p.F219Lfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	767.29	41	chr7	91874076	.	TA	T	767.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.801;SOR=0.76	GT:AD:DP:GQ:PL	0/1:26,29:55:99:781,0,681	18	0	1	0
chr7	91973950	91973950	G	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon2:c.G288T:p.E96D,AKAP9:NM_147185:exon2:c.G288T:p.E96D	.	0	1521	1	0	0	1	0.000328623	.	.	.	188432	Long_QT_syndrome_11|AKAP9-related_disorder|Long_QT_syndrome|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|.|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00261936188278	0.0012	0.00139776	0.0002	0.0026	0.0002	0	0	0	0.0011	0	0.0002393	37	154602	rs34953651	8.278e-05	8.277e-05	0.0001	6.463e-05	0.0030	7.069e-05	6.618e-05	0.0025	0.0024	0.0030	0.0002	0	0	0	0	4.497e-06	9.935e-05	1.159e-05	0.0010	0.0010	0.0011	0.0009	0.0037	0.0009	0.0008	0.0033	0.0031	0.0037	0	6.539e-05	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	1.0	0.05939	T	0.0	0.02946	B	0.0	0.01387	B	0.773622	0.09527	N	0.861583	1	0.08975	N	.	.	.	2.57	0.15724	T	1.03	0.01350	N	0.065	0.10056	-0.9319	0.43859	T	0.009	0.03140	T	10	0.0051324964	0.00111	T	0.002619	0.05320	T	0.007	0.00512	0.253	0.19223	0.107399877778	0.10242	0.04221912728933464	0.04166	0.0494023955414	0.05411	0.271786630154	0.06375	T	0.222752	0.59126	T	-0.715696	0.00029	T	-0.802297	0.01845	T	0.00494998546037032	0.00053	T	0.574243	0.20591	T	0.036584087	0.04528	0.044111244	0.05641	0.0347752	0.03967	0.039853908	0.04173	-3.115	0.11469	T	.	.	0.072	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.391316	0.02244	0.229	0.37050054196962318	0.02418	0.01630	0.05256	N	AEFDBI	0.032711	0.03746	N	-1.62843764256924	0.01129	0.04904524	-1.55762099013264	0.01924	0.08777849	0.0235114319707664	0.13513	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	-2.38	0.06243	-0.490000	0.06562	-0.554000	0.08512	-0.191000	0.09375	0.091000	0.22601	0.020000	0.20764	0.291000	0.24285	0.0:0.3496:0.4436:0.2068	7.642	0.27468	146	0.94180	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1061.33	33	chr7	91973950	.	G	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=723;ExcessHet=0;FS=5.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.154;SOR=1.32	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr7	92040822	92040822	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4841A:p.R1614Q,AKAP9:NM_147185:exon18:c.G4841A:p.R1614Q	.	1	1517	4	0	0	4	0.00131666	.	.	.	140033	Long_QT_syndrome|not_provided|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype|Congenital_long_QT_syndrome	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0085	0.00898562	0.0023	0.0246	0.0012	0	0	0	0.0011	0.0002	0.0022121	342	154602	rs2230768	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0007	0.0226	0.0220	0.0240	0.0011	0	0	0	0.0003	4.586e-05	0.0015	0.0004	0.0078	0.0078	0.0086	0.0069	0.0272	0.0074	0.0073	0.0259	0.0253	0.0272	0	0.0022	0	0	0	0	0.0001	0.0057	0.0002	0.61	0.05468	T	0.616	0.07543	T	.	.	.	.	.	.	0.051098	0.23013	N	0.221905	0.999999	0.08975	N	.	.	.	4.1	0.02944	T	0.13	0.05503	N	0.105	0.10198	-0.8902	0.48916	T	0.002	0.00676	T	10	0.0024280548	0.00036	T	.	.	.	0.021	0.04004	.	.	0.170165803431	0.16609	0.051017992049320796	0.05043	0.0657727267597	0.07340	0.284583806992	0.08141	T	0.226294	0.59128	T	-0.700711	0.00036	T	-0.757669	0.03196	T	0.00040348375715017	0.00003	T	0.884312	0.63622	D	0.02304902	0.01012	0.033941746	0.02375	0.037112333	0.04694	0.029517153	0.01298	-4.048	0.24519	T	.	.	0.096	0.20313	B	.;.;.;.	.;.;.;.	2.367652	0.30374	18.42	0.924192224954407	0.21835	0.11957	0.16970	N	AEFBI	0.029805	0.02881	N	-0.715390197206987	0.15590	0.7869578	-0.667323718859663	0.17780	0.9469289	0.908041633314627	0.26274	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	1.43	0.21585	0.527000	0.22695	0.989000	0.23179	0.613000	0.49114	0.505000	0.26994	0.355000	0.24491	0.764000	0.36293	0.5055:0.0:0.4945:0.0	7.685	0.27700	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1754.33	38	chr7	92040822	.	G	A	1754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.85;DP=1148;ExcessHet=0;FS=2.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.279;SOR=0.931	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr7	92052726	92052726	T	G	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon22:c.T5369G:p.V1790G,AKAP9:NM_147185:exon22:c.T5369G:p.V1790G	.	27	1477	15	3	0	21	0.00705882	0	0.062	.	178589	Sudden_cardiac_death|Long_QT_syndrome|Congenital_long_QT_syndrome|Cardiovascular_phenotype|not_specified|AKAP9-related_disorder|not_provided|Long_QT_syndrome_11	EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN230736|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0118417902771	0.0008	0.000798722	0.0009	0.0002	0.0017	0	0.0008	0.0011	0.0012	0.0009	0.0008732	135	154602	rs151021935	0.0007	0.0007	0.0007	0.0007	0.0287	0.0007	0.0007	0.0251	0.0238	0.0003	0.0018	0.0039	0	0.0002	0.0287	0.0005	0.0015	0.0008	0.0009	0.0009	0.0008	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0037	0	0.0002	0.0204	0.0010	0.0019	0.0019	0.476	0.08335	T	0.117	0.36365	T	.	.	.	.	.	.	0.284174	0.14889	N	0.508000	0.997967	0.44365	D	.	.	.	3.84	0.03675	T	-0.19	0.09965	N	0.352	0.52029	-0.9050	0.47447	T	0.007	0.02558	T	9	0.0068029463	0.00155	T	0.011842	0.29861	T	0.125	0.34456	.	.	0.237489013734	0.23353	0.13633560980467907	0.13557	0.0662238468404	0.07386	0.368595659733	0.20630	T	0.27611	0.64868	T	-0.498775	0.00581	T	-0.524611	0.19828	T	0.0105244483969655	0.00146	T	0.510849	0.16474	T	0.02878433	0.02270	0.033207912	0.02177	0.02878433	0.02270	0.033207912	0.02176	-3.732	0.19791	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	1.431281	0.18497	13.77	0.75191252728083136	0.10980	0.71057	0.34850	D	AEFBI	0.181168	0.30848	N	-0.706442084114323	0.15840	0.8018866	-0.602666852924261	0.19424	1.042079	0.99175183143928	0.32597	0.706548	0.73137	0	0.633656	0.55848	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.91	2.48	0.29194	1.281000	0.32819	1.119000	0.24226	-0.263000	0.06870	0.911000	0.31706	0.888000	0.27792	0.817000	0.38496	0.1652:0.095:0.1712:0.5686	1.829	0.02936	492	0.76569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021717	0.020408	0.016304	0.064706	0.000000	0.043103	0.009202	0.000000	0.02632	883.33	35	chr7	92052726	.	T	G	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=682;ExcessHet=0;FS=6.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=1.07;SOR=1.721	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1129	18	0	1	0
chr7	92058290	92058290	G	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon1:c.G122T:p.C41F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.2345	0.76769	T	0.374	0.73287	T	5	0.2704359	0.44575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233577	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.	.	1.605605	0.20521	14.79	0.8420152342954077	0.15154	0.87659	0.47272	D	AEFDBHI	.	.	.	0.213321199254475	0.51845	3.36263	0.263548253779121	0.53424	3.511444	0.99999999735152	0.74766	0.087844	0.02253	0	0.083875	0.02048	0	0.060301	0.00762	0	0.062806	0.01542	0	0.438892	0.38373	5.29	4.4	0.52402	2.716000	0.46888	3.637000	0.39334	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.4308:0.5691:0.0	15.004	0.71153	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51.44	.	chr7	92058290	.	G	T	51.44	.	AC=2;AF=0.5;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=25.72;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	17
chr7	92083295	92083295	A	C	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon12:c.A2931C:p.K977N,AKAP9:NM_005751:exon33:c.A8286C:p.K2762N,AKAP9:NM_147185:exon33:c.A8262C:p.K2754N	.	0	1519	3	0	0	3	0.000986518	.	.	.	189291	not_specified|AKAP9-related_disorder|Long_QT_syndrome_11|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0125176007855	0.0008	0.000798722	0.0013	0.0002	0.0002	0	0.0009	0.0021	0.0011	0	0.0013001	201	154602	rs144875383	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0.0002	0	0.0011	0.0009	0.0013	0.0011	4.637e-05	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0016	0.0015	0.0001	0	0.0002	0	0	0.0005	0	0.0018	0.0005	0.0002	0.013	0.53900	D	0.047	0.58613	D	.	.	.	.	.	.	0.085927	0.20614	N	0.352981	1	0.08975	N	.	.	.	0.76	0.49919	T	-1.01	0.26639	N	0.078	0.13626	-1.0452	0.15767	T	0.072	0.29227	T	10	0.0072523654	0.00165	T	0.012518	0.31165	T	0.043	0.11576	.	.	0.262662153117	0.25859	0.14367663154327603	0.14290	0.0701881874593	0.07864	0.235476121306	0.02397	T	0.316968	0.69175	T	-0.62443	0.00103	T	-0.676991	0.07168	T	0.0109575015113562	0.00157	T	0.70273	0.31245	T	0.05499468	0.10628	0.047011368	0.06680	0.057578154	0.11475	0.07007185	0.14843	-3.836	0.21343	T	.	.	0.162	0.36554	B	.;.;.;.	.;.;.;.	1.143448	0.15306	11.75	0.2170270444736031	0.00839	0.45459	0.27543	N	AEFBI	0.117082	0.22952	N	-0.997593829936056	0.08655	0.4066411	-1.02175741166148	0.09308	0.4623056	0.079517317954245	0.15820	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.8	1.12	0.19700	1.214000	0.32023	1.835000	0.29145	-0.093000	0.16093	0.195000	0.24249	0.074000	0.22270	0.021000	0.11733	0.5036:0.0:0.4964:0.0	9.863	0.40298	334	0.86273	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1312.33	33	chr7	92083295	.	A	C	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.176;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.766;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	18	0	1	0
chr7	92095127	92095127	A	G	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_001379277:exon19:c.A4328G:p.K1443R,AKAP9:NM_005751:exon40:c.A9683G:p.K3228R,AKAP9:NM_147185:exon40:c.A9659G:p.K3220R	.	.	.	.	.	.	.	.	.	.	.	636429	Cardiovascular_phenotype|Long_QT_syndrome	MedGen:CN230736|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0230598030052	7.7e-05	0.000199681	5.768e-05	0	0	0	0	8.994e-05	0	6.057e-05	5.17e-05	8	154602	rs368263036	2.189e-05	2.189e-05	1.633e-05	2.75e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	2.518e-05	0	1.159e-05	2.626e-05	2.624e-05	1.285e-05	4.027e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.163	0.29823	T	0.493	0.11443	T	.	.	.	.	.	.	0.001323	0.39379	N	0.000000	0.779846	0.34253	D	.	.	.	3.96	0.03597	T	-1.25	0.33401	N	0.27	0.40364	-0.9606	0.39068	T	0.013	0.05129	T	10	0.09827	0.17755	T	0.02306	0.45999	T	0.057	0.16321	.	.	0.381409048467	0.37754	0.06505550980052849	0.06444	0.325225623117	0.34678	0.504067003727	0.39394	T	0.258492	0.62965	T	-0.330762	0.06054	T	-0.532597	0.19027	T	0.16310042142868	0.18098	T	0.843016	0.51993	T	0.050246645	0.09048	0.056998357	0.10286	0.050246645	0.09048	0.056998357	0.10286	-3.789	0.20640	T	.	.	0.097	0.17360	B	.;.;.	.;.;.	3.831862	0.55391	23.6	0.99616409242596193	0.75112	0.90940	0.52550	D	AEFBI	0.282867	0.39610	N	-0.0519119560601628	0.39517	2.331652	0.0455883437308208	0.41859	2.521905	0.59775742975031	0.21700	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.38	4.23	0.49319	3.260000	0.51225	5.257000	0.48110	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.848:0.0:0.152:0.0	8.984	0.35142	326	0.86709	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	440.33	34	chr7	92095127	.	A	G	440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.197;DP=680;ExcessHet=0;FS=8.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.09;SOR=0.525	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr7	92131845	92131845	T	C	exonic	CYP51A1	.	nonsynonymous SNV	CYP51A1:NM_000786:exon2:c.A220G:p.I74V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0187774552616	0.0003	0.000399361	0.0001	0.0011	0	0	0	6.036e-05	0	6.068e-05	0.0001229	19	154602	rs148197561	6.354e-05	6.567e-05	5.77e-05	6.944e-05	0.0009	5.278e-05	4.892e-05	0.0007	0.0006	0.0009	0.0001	0	0	0	0.0005	3.813e-05	0.0001	2.362e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0002	0.0009	0.0008	0.0011	0	0	0	0.0002	0	0	2.942e-05	0	0	0.253	0.16958	T	0.286	0.92824	T	.	.	.	.	.	.	0.000189	0.48115	N	0.228808	0.99879	0.81001	D	.	.	.	-0.38	0.69027	T	-0.81	0.22944	N	0.196	0.21580	-0.9614	0.38916	T	0.185	0.53496	T	10	0.033731192	0.01557	T	0.018777	0.40954	T	0.085	0.24743	.	.	0.566480848757	0.56312	0.5588104145265905	0.55808	0.160590255575	0.18125	0.414376616478	0.27062	T	0.014055	0.12038	T	-0.404747	0.02154	T	-0.360952	0.37943	T	0.0205178516780672	0.00751	T	0.80112	0.45479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.16099	B	.;.;.	.;.;.	1.167170	0.15569	11.94	0.95915005436060641	0.28169	0.87595	0.47186	D	AEFBI	0.187263	0.31456	N	-0.419583011349734	0.24783	1.340629	-0.322753193083032	0.27365	1.517963	0.999713457621808	0.42101	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.22	0.016	0.13429	1.460000	0.34855	-0.799000	0.07382	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.980000	0.58198	0.0:0.2699:0.0:0.7301	9.565	0.38556	270	0.89404	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	235.33	35	chr7	92131845	.	T	C	235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=687;ExcessHet=0;FS=5.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=-0.288;SOR=0.76	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1292	18	0	1	0
chr7	92150539	92150539	C	G	exonic	LRRD1	.	nonsynonymous SNV	LRRD1:NM_001384932:exon3:c.G326C:p.R109T,LRRD1:NM_001384933:exon3:c.G326C:p.R109T,LRRD1:NM_001384934:exon3:c.G326C:p.R109T,LRRD1:NM_001161528:exon4:c.G2273C:p.R758T	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.258904812283	0.0004	0.000199681	0.0010	0	0	0	0.0006	0.0012	0	0.0013	0.0003558	55	154602	rs138031057	0.0012	0.0012	0.0013	0.0011	0.0048	0.0012	0.0011	0.0034	0.0029	3.197e-05	0.0004	0.0002	2.818e-05	0.0006	0.0048	0.0013	0.0014	0.0015	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0003	0.0003	0	0.0003	0	0.0017	0.0024	0.0004	0.006	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.997476	0.43918	D	2.455	0.71248	M	1.41	0.93111	T	-3.41	0.67129	D	0.432	0.47115	1.004	0.97261	D	0.907	0.96906	D	9	0.059993923	0.07301	T	0.258905	0.89426	D	0.583	0.83249	.	.	0.592167511858	0.58893	0.3163444304276735	0.31547	.	.	0.525310754776	0.42374	T	0.007308	0.06724	T	0.0873978	0.62896	D	0.33375	0.89663	D	0.0980810827425068	0.12145	T	0.605339	0.35069	T	0.47638044	0.65680	0.44925976	0.67942	0.47638044	0.65681	0.44925976	0.67942	-3.62	0.18147	T	.	.	0.339	0.67234	B	.;.;.	.;.;.	4.038526	0.59774	24.1	0.98599194234732856	0.43480	0.94075	0.60037	D	AEFBI	0.539851	0.55666	D	0.830207605354918	0.87955	9.400344	0.78953061503898	0.89055	9.820915	0.999820471907713	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	3.759000	0.54939	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.741	0.88315	273	0.89298	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002506	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.012821	0.02632	997.33	33	chr7	92150539	.	C	G	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=677;ExcessHet=0;FS=3.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.792;SOR=0.36	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1260	18	0	1	0
chr7	92468857	92468857	G	A	exonic	ERVW-1	.	stopgain	ERVW-1:NM_014590:exon1:c.C1525T:p.R509X,ERVW-1:NM_001130925:exon2:c.C1525T:p.R509X	.	547	954	20	1	0	22	0.011399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00419329	0.0023	0	0.0002	0	0	0.0004	0.0011	0.0149	0.0019922	308	154602	rs151180490	0.0019	0.0018	0.0010	0.0026	0.0138	0.0018	0.0017	0.0131	0.0128	0.0002	0.0004	0	0	0	0.0028	0.0003	0.0009	0.0138	0.0006	0.0006	0.0004	0.0008	0.0124	0.0005	0.0004	0.0099	0.0090	4.813e-05	0	0.0002	0	0	9.425e-05	0	0.0003	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	1.000000	0.07966	U	0.401907	0.982513	0.39901	D	.	.	.	.	.	.	.	.	.	0.047	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329443	0.85126	D	0.235446	0.84931	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.493266	0.91505	32	0.95310512125171376	0.26643	0.00403	0.02011	N	AEFI	0.057299	0.10661	N	-0.190765025704405	0.33518	1.902482	-0.611221551837486	0.19205	1.029351	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	-0.495000	0.08836	0.171000	0.17763	0.124000	0.23245	0.019000	0.20708	0.138000	0.19872	.	.	.	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	361.33	36	chr7	92468857	.	G	A	361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=526;ExcessHet=0;FS=3.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.13;SOR=1.329	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1039	18	0	1	0
chr7	92469336	92469336	T	C	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.A1046G:p.K349R,ERVW-1:NM_001130925:exon2:c.A1046G:p.K349R	.	531	986	4	1	0	6	0.00303337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0042	0.00439297	0.0011	0.0129	0.0003	0	0	0	0	0.0001	0.0010608	164	154602	rs148969166	0.0005	0.0005	0.0006	0.0004	0.0131	0.0004	0.0004	0.0117	0.0111	0.0131	0.0004	0	0	0	0.0008	2.858e-06	0.0010	5.739e-05	0.0038	0.0039	0.0040	0.0037	0.0138	0.0036	0.0035	0.0128	0.0125	0.0138	0	0.0006	0	0	0	0	0	0.0019	0	0.072	0.34982	T	0.293	0.20811	T	.	.	.	.	.	.	0.929324	0.08432	U	0.899723	0.999999	0.08975	N	.	.	.	2.13	0.19588	T	-1.07	0.27876	N	0.062	0.03841	-0.9843	0.33998	T	0.038	0.16290	T	7	0.013877869	0.00293	T	.	.	.	0.078	0.22779	.	.	0.259761712551	0.25597	0.36868641104340016	0.36782	0.329409374188	0.35053	0.530880212784	0.43159	T	0.002985	0.02381	T	-0.363128	0.03956	T	-0.759384	0.03135	T	0.00722816777664879	0.00083	T	0.417558	0.11011	T	0.10871068	0.25703	0.1605261	0.37385	0.10871068	0.25703	0.1605261	0.37384	-3.896	0.22243	T	.	.	0.093	0.14660	B	.;.	.;.	1.383783	0.17953	13.47	0.97800487967636074	0.36058	0.01015	0.03823	N	AEFI	0.039574	0.05768	N	-0.515249929023873	0.21586	1.147	-0.676570430657579	0.17547	0.9335177	2.73064998997894E-4	0.06300	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.147000	0.16021	0.282000	0.16777	0.168000	0.17747	0.462000	0.26659	0.348000	0.24457	0.558000	0.30364	.	.	.	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1146.33	120	chr7	92469336	.	T	C	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.274;DP=1351;ExcessHet=0;FS=5.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.57;SOR=0.472	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr7	92469996	92469996	A	G	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.T386C:p.V129A,ERVW-1:NM_001130925:exon2:c.T386C:p.V129A	.	551	945	26	0	0	26	0.0135699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0082	0.00499201	0.0074	0.0015	0.0047	0	0.0011	0.0118	0.0070	0.0018	0.0070827	1095	154602	rs142852059	0.0078	0.0078	0.0077	0.0079	0.0183	0.0076	0.0076	0.0141	0.0126	0.0019	0.0056	0.0154	5.549e-05	0.0011	0.0183	0.0105	0.0093	0.0029	0.0065	0.0065	0.0072	0.0058	0.0100	0.0062	0.0060	0.0094	0.0091	0.0019	0.0022	0.0083	0.0121	0	0.0008	0.0204	0.0100	0.0095	0.0050	0.02	0.49613	D	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	-1.0	0.26422	N	0.053	0.02964	-1.0259	0.21788	T	0.024	0.10148	T	6	0.004876077	0.00104	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.5273443581848267	0.52658	0.401209546	0.41108	0.52984726429	0.43013	T	0.008542	0.07834	T	-0.668288	0.00056	T	-0.722338	0.04683	T	0.0131194170398087	0.00231	T	0.268673	0.04486	T	0.11896522	0.28020	0.15734355	0.36797	0.11896522	0.28020	0.15734355	0.36796	-3.739	0.19895	T	.	.	0.237	0.47039	B	.;.	.;.	0.017815	0.04408	1.147	0.86537609897876433	0.16603	0.00541	0.02492	N	AEGI	0.028852	0.02618	N	-0.623179455358839	0.18249	0.9459477	-0.838648393074483	0.13560	0.7041575	0.00115902076216214	0.08283	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.164000	0.16359	0.360000	0.17566	0.187000	0.17834	0.290000	0.25233	0.003000	0.18671	0.338000	0.25386	.	.	.	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	38	chr7	92469996	.	A	G	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.437;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	18	0	1	0
chr7	92532425	92532425	T	A	exonic	RBM48	.	nonsynonymous SNV	RBM48:NM_001363366:exon3:c.T324A:p.D108E,RBM48:NM_032120:exon3:c.T324A:p.D108E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562	0.0534138037586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	.	.	.	-3.99	0.73893	D	0.791	0.78737	-0.1736	0.78340	T	0.438	0.77695	T	9	0.7902355	0.78597	D	0.053414	0.65459	D	0.562	0.82061	0.713	0.84872	0.787037328628	0.78506	0.39073612321087753	0.38988	0.777397811741	0.65109	0.649977445602	0.59983	T	0.551408	0.84818	D	0.384973	0.89026	D	0.315211	0.88887	D	0.997321665287018	0.91287	D	0.947905	0.84340	D	0.7816089	0.82753	0.67916864	0.81152	0.7816089	0.82754	0.67916864	0.81153	-11.071	0.80393	D	0.8272468651233572	0.89890	0.976	0.90325	P	.;.;.	.;.;.	4.138632	0.61994	24.4	0.9967321859047702	0.78717	0.96822	0.71126	D	AEFBI	0.473076	0.51792	N	0.616080146843969	0.74191	6.090942	0.535632429504426	0.70403	5.50028	0.946317225955696	0.27700	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.34	4.18	0.48473	3.747000	0.54853	3.483000	0.38662	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1704:0.0:0.8296	8.285	0.31084	808	0.43318	RBM48, RNA recognition motif;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	34	chr7	92532425	.	T	A	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.467;DP=736;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.303;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	18	0	1	0
chr7	92577129	92577129	T	C	exonic	FAM133B	.	nonsynonymous SNV	FAM133B:NM_001288584:exon7:c.A409G:p.M137V,FAM133B:NM_152789:exon7:c.A439G:p.M147V,FAM133B:NM_001040057:exon8:c.A409G:p.M137V	.	1154	367	1	0	0	1	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00823634032413	.	0.00199681	0.0019	0.0006	0.0024	0	0	0.0010	0.0085	0.0034	0.000608	94	154602	rs548380070	0.0009	0.0009	0.0008	0.0010	0.0342	0.0008	0.0008	0.0301	0.0285	0.0009	0.0018	0.0015	0	0	0.0342	0.0005	0.0018	0.0030	0.0009	0.0009	0.0009	0.0010	0.0035	0.0008	0.0007	0.0025	0.0022	0.0002	0	0.0032	0.0006	0	0	0.0204	0.0007	0.0038	0.0035	0.456	0.08943	T	0.261	0.28391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.0	0.41392	T	-0.51	0.46673	N	0.106	0.09207	-1.0259	0.21788	T	0.060	0.25127	T	9	0.004259348	0.00085	T	0.008236	0.21827	T	0.061	0.17616	.	.	0.0666544352282	0.05500	0.014799510401165932	0.01436	0.241242938755	0.26650	0.237422019243	0.02563	T	0.012608	0.18845	T	-0.639195	0.00084	T	-0.694301	0.06143	T	0.00745947396083215	0.00086	T	0.0982902	0.10549	T	0.042330205	0.06401	0.054670334	0.09447	0.042330205	0.06400	0.054670334	0.09447	-1.539	0.01846	T	.	.	0.054	0.00806	B	.;.;.;.	.;.;.;.	0.623002	0.09915	6.673	0.29699419979630881	0.01588	0.12021	0.17010	N	AEFBI	0.050401	0.08804	N	-1.56514191267039	0.01448	0.06318194	-1.60497189534714	0.01625	0.07375458	0.999919329735427	0.45857	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.4	-6.41	0.01766	0.401000	0.20673	-0.240000	0.10600	-1.528000	0.00996	0.312000	0.25432	0.000000	0.08366	0.526000	0.29613	0.103:0.4573:0.1056:0.3341	5.563	0.16441	800	0.44535	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018900	0.025773	0.027523	0.041045	0.000000	0.009434	0.000000	0.000000	0.05263	529.83	17	chr7	92577129	.	T	C	529.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.099;DP=510;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.121;SOR=1.14	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	17	0	2	0
chr7	93101365	93101365	A	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.T4733C:p.I1578T,SAMD9:NM_017654:exon3:c.T4733C:p.I1578T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	8	1506	8	0	0	8	0.00264901	.	.	.	700283	SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified|not_provided	.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0082	0.00119808	0.0063	0.0027	0.0047	0.0001	0.0033	0.0097	0.0055	0.0004	0.0061189	946	154602	rs144380633	0.0086	0.0086	0.0089	0.0082	0.0103	0.0084	0.0084	0.0101	0.0100	0.0031	0.0033	0.0050	0.0002	0.0041	0.0045	0.0103	0.0072	0.0005	0.0063	0.0063	0.0071	0.0053	0.0095	0.0059	0.0058	0.0089	0.0086	0.0028	0.0515	0.0053	0.0043	0.0002	0.0032	0	0.0095	0.0057	0.0010	0.117	0.28271	T	0.261	0.22962	T	0.034	0.20480	B	0.01	0.14941	B	0.000101	0.51296	U	0.076580	0.865367	0.35463	D	1.325	0.33218	L	1.7	0.26885	T	-1.38	0.34198	N	0.289	0.32701	-1.0491	0.14649	T	0.040	0.17063	T	10	0.003968388	0.00076	T	.	.	.	0.057	0.16321	.	.	0.39798585902	0.39410	0.761286815586817	0.76076	0.204124172079	0.22834	0.408249616623	0.26215	T	0.009829	0.08919	T	-0.50466	0.00538	T	-0.487298	0.23673	T	0.0117568175455189	0.00181	T	0.641436	0.25361	T	0.033533625	0.03591	0.070413545	0.14956	0.036537778	0.04512	0.070413545	0.14955	-2.395	0.05102	T	0.3746701528559821	0.46981	0.108	0.20625	B	.;.	.;.	2.065214	0.26261	17.06	0.97686562160227419	0.35346	0.95653	0.65588	D	AEFBI	0.415768	0.48450	N	-0.0830117775747788	0.38137	2.229104	0.0398832287104833	0.41586	2.500856	0.617595841576832	0.21856	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.44	3.3	0.36912	3.823000	0.55415	1.280000	0.25345	0.731000	0.85647	0.999000	0.42656	0.553000	0.25478	0.968000	0.53726	0.9074:0.0:0.0926:0.0	9.291	0.36945	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.006793	0.002924	0.000000	0.000000	0.006098	0.000000	0.05263	781.83	33	chr7	93101365	.	A	G	781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.29;DP=645;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.11;SOR=0.629	GT:AD:DP:GQ:PL	0/1:20,13:33:99:388,0,501	17	0	2	0
chr7	93101432	93101432	C	T	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G4666A:p.A1556T,SAMD9:NM_017654:exon3:c.G4666A:p.A1556T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	700284	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0048	0.00359425	0.0059	0.0015	0.0049	0	0.0073	0.0083	0.0099	0.0017	0.0057632	891	154602	rs34896991	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0070	0.0070	0.0008	0.0065	0.0021	0.0003	0.0072	0.0043	0.0071	0.0054	0.0019	0.0045	0.0045	0.0044	0.0047	0.0068	0.0043	0.0041	0.0062	0.0060	0.0012	0	0.0052	0.0023	0.0002	0.0072	0.0034	0.0068	0.0052	0.0010	0.212	0.19500	T	0.079	0.42086	T	0.008	0.14655	B	0.003	0.08700	B	0.754046	0.09677	N	0.865024	1	0.08975	N	1.355	0.33814	L	1.86	0.24285	T	-0.71	0.20145	N	0.025	0.01004	-1.0039	0.28785	T	0.035	0.15247	T	10	0.0029645562	0.00048	T	.	.	.	0.048	0.13305	.	.	0.348983352498	0.34513	0.6272587216299133	0.62658	0.160453842273	0.18105	0.292616605759	0.09304	T	0.003878	0.03292	T	-0.657699	0.00065	T	-0.709554	0.05318	T	0.00963621829570929	0.00125	T	0.454355	0.12956	T	0.027358465	0.01916	0.046490066	0.06491	0.03489814	0.04004	0.046490066	0.06491	-3.564	0.17338	T	0.3150631741536978	0.41308	0.071	0.03925	B	.;.	.;.	0.561062	0.09297	6.078	0.88000363444403584	0.17641	0.07416	0.13435	N	AEFBI	0.050557	0.08847	N	-1.05932818597743	0.07406	0.3439248	-1.10292291870029	0.07644	0.3726435	0.027901927115823	0.13801	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.34	-2.05	0.06916	0.640000	0.24394	-0.433000	0.09209	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7081:0.0:0.2919	10.236	0.42457	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	662.33	33	chr7	93101432	.	C	T	662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=686;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.564;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,31:182:99:.:.:159,0,5419:.	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,36:184:99:.:.:187,0,5418:.	5	0	14	0
chr7	93135686	93135686	A	G	exonic	SAMD9L	.	nonsynonymous SNV	SAMD9L:NM_001303500:exon4:c.T286C:p.S96P,SAMD9L:NM_001350083:exon4:c.T286C:p.S96P,SAMD9L:NM_001303496:exon5:c.T286C:p.S96P,SAMD9L:NM_001303498:exon5:c.T286C:p.S96P,SAMD9L:NM_001350085:exon5:c.T286C:p.S96P,SAMD9L:NM_152703:exon5:c.T286C:p.S96P,SAMD9L:NM_001303497:exon6:c.T286C:p.S96P,SAMD9L:NM_001350082:exon6:c.T286C:p.S96P,SAMD9L:NM_001350084:exon6:c.T286C:p.S96P	Ataxia-pancytopenia syndrome, Autosomal dominant	436	1084	2	0	0	2	0.000921659	.	.	.	736348	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0089	0.00838658	0.0023	0.0260	0.0007	0	0	2.998e-05	0.0011	0	0.002238	346	154602	rs60838691	0.0007	0.0007	0.0007	0.0006	0.0247	0.0006	0.0006	0.0233	0.0228	0.0247	0.0009	0	0	0	0.0005	1.709e-05	0.0015	1.159e-05	0.0075	0.0075	0.0080	0.0070	0.0260	0.0072	0.0070	0.0247	0.0241	0.0260	0	0.0031	0	0	0	0	0.0001	0.0062	0	0.077	0.34095	T	0.143	0.33219	T	0.001	0.22967	B	0.004	0.19653	B	0.283462	0.14901	N	0.555820	1	0.08975	N	1.735	0.44892	L	2.36	0.16089	T	-1.03	0.27052	N	0.099	0.13769	-1.0362	0.18481	T	0.013	0.05033	T	10	0.0043650866	0.00089	T	.	.	.	0.012	0.01476	.	.	0.270889551736	0.26708	0.18906859140192242	0.18824	0.41185196573	0.41935	0.297449052334	0.10022	T	0.004821	0.04238	T	-0.690157	0.00042	T	-0.745886	0.03649	T	0.000462337337337337	0.00004	T	0.291871	0.05709	T	0.0691692	0.15131	0.07761991	0.17308	0.061570685	0.12763	0.08594633	0.19880	-4.19	0.26607	T	.	.	0.079	0.11461	B	.;.;.;.	.;.;.;.	1.035471	0.14157	10.73	0.98762344551853176	0.45831	0.08750	0.14633	N	AEFBI	0.089220	0.18085	N	-0.885221126112405	0.11194	0.5388585	-0.945588944529364	0.11026	0.5591675	0.00295674901039246	0.09827	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.68	0.992	0.18937	-0.077000	0.11356	0.989000	0.23179	0.567000	0.28720	0.000000	0.06391	0.010000	0.20010	0.004000	0.06068	0.6538:0.0:0.3462:0.0	8.512	0.32385	812	0.42537	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1807.33	41	chr7	93135686	.	A	G	1807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=816;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.897;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	18	0	1	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/0:66,16:92:52:0,52,1468	14	0	5	0
chr7	94664113	94664113	A	G	exonic	PEG10	.	nonsynonymous SNV	PEG10:NM_001040152:exon2:c.A557G:p.N186S,PEG10:NM_001172438:exon2:c.A785G:p.N262S,PEG10:NM_001184962:exon2:c.A659G:p.N220S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00587106976844	0.0002	0.000199681	0.0004	0.0001	0.0003	0	0	0.0002	0	0.0018	0.0003105	48	154602	rs200638421	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	5.974e-05	0.0002	0	0	0	0.0026	0.0002	0.0003	0.0015	0.0001	0.0001	7.71e-05	0.0001	0.0012	7.087e-05	5.744e-05	0.0005	0.0004	9.622e-05	0	6.536e-05	0	0	0	0	8.821e-05	0	0.0012	0.813	0.03013	T	0.353	0.32249	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.77	0.11407	T	0.66	0.02297	N	0.195	0.25989	-0.9297	0.44183	T	0.014	0.05417	T	9	0.008751482	0.00198	T	0.005871	0.15281	T	0.036	0.09122	.	.	0.228066490088	0.22430	0.346831035714269	0.34597	1.20088527153	0.80543	0.524010062218	0.42190	T	0.014664	0.12634	T	-0.481897	0.00721	T	-0.484002	0.24022	T	0.0123804421005519	0.00202	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	-4.677	0.33125	T	.	.	0.092	0.26545	B	.;.;.;.;.;.	.;.;.;.;.;.	1.732817	0.22052	15.46	0.64619781024701828	0.07544	0.12703	0.17429	N	AEFDGBCI	0.086295	0.17495	N	-0.825660929755817	0.12656	0.6183297	-0.753957091960486	0.15625	0.8227058	0.993718491519024	0.33326	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.05	1.71	0.23429	1.196000	0.31807	5.923000	0.51195	0.751000	0.87719	0.001000	0.13787	1.000000	0.68203	0.416000	0.27139	0.5807:0.2074:0.212:0.0	3.412	0.06935	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2955.33	34	chr7	94664113	.	A	G	2955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.24;DP=881;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=1.36;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	18	0	1	0
chr7	94910346	94910346	A	G	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166162:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166163:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166160:exon2:c.A233G:p.N78S,PPP1R9A:NM_017650:exon2:c.A233G:p.N78S	.	421	1095	6	0	0	6	0.00273224	.	.	.	2392041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00589071365289	.	0.000199681	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs569938281	6.362e-05	6.362e-05	4.356e-05	8.388e-05	0.0007	5.295e-05	4.911e-05	0.0002	0.0001	2.987e-05	0	7.652e-05	0	0	0.0007	4.586e-05	0.0002	0.0002	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.374	0.11406	T	0.84	0.03610	T	0.0	0.02946	B	0.0	0.01387	B	0.036192	0.24552	N	0.385523	1	0.08975	N	0.29	0.10111	N	2.58	0.13434	T	-0.42	0.14978	N	0.058	0.08646	-0.9738	0.36387	T	0.011	0.04369	T	9	0.01691711	0.00358	T	0.005891	0.15340	T	0.055	0.15663	0.058	0.00182	0.141422826196	0.13715	0.05467836055173705	0.05409	0.131701140582	0.14851	0.256446897984	0.04476	T	0.03028	0.21502	T	-0.623219	0.00105	T	-0.82844	0.01290	T	0.0625598430633545	0.07567	T	0.861714	0.55578	D	0.021377724	0.00737	0.04201518	0.04908	0.021377724	0.00737	0.04201518	0.04907	-1.695	0.02216	T	.	.	0.049	0.00120	B	.;.;.;.;.;.	.;.;.;.;.;.	0.080795	0.04871	1.459	0.24878314357983372	0.01121	0.05050	0.10838	N	AEFBI	0.063901	0.12377	N	-1.53472940274998	0.01625	0.07108063	-1.53899852451525	0.02052	0.0938404	0.999991806816145	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.527494	0.11647	0	0.616125	0.45549	0	.	.	5.51	-7.33	0.01284	-0.173000	0.09844	-1.072000	0.06417	-0.576000	0.04747	0.175000	0.24000	0.000000	0.08366	0.077000	0.17074	0.3283:0.1863:0.4854:0.0	11.030	0.46981	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1819.33	39	chr7	94910346	.	A	G	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.621;DP=788;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.722;SOR=0.62	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr7	95120766	95120766	G	T	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166162:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166163:exon3:c.G1583T:p.G528V,PPP1R9A:NM_001166160:exon4:c.G1583T:p.G528V,PPP1R9A:NM_017650:exon4:c.G1583T:p.G528V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0408162176909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.986	0.61523	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	1.12	0.38718	T	-7.63	0.96368	D	0.815	0.94077	-0.6403	0.63133	T	0.235	0.60148	T	10	0.7867024	0.78308	D	0.040816	0.59586	D	0.473	0.76619	0.561	0.68093	0.652067639975	0.64917	0.9098393710735511	0.90957	0.773867831764	0.64915	0.900105834007	0.96452	D	0.375415	0.73902	T	0.279523	0.81277	D	0.163739	0.81035	D	0.998916029930115	0.95567	D	0.90251	0.65969	D	0.9636263	0.97643	0.915272	0.96063	0.9636263	0.97643	0.915272	0.96064	-14.973	0.96057	D	.	.	0.997	0.96404	P	.;.;.;.;.;.	.;.;.;.;.;.	5.220956	0.87624	29.3	0.99802489297016972	0.88728	0.99010	0.89916	D	AEFI	0.955204	0.97287	D	0.812331298767372	0.86871	9.026676	0.787229259077123	0.88891	9.75596	0.999999940221245	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.46	4.46	0.53567	9.932000	0.98831	11.709000	0.94623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.437	0.90597	745	0.52414	.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1083.33	33	chr7	95120766	.	G	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=716;ExcessHet=0;FS=9.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.952;SOR=1.327	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	95274096	95274096	G	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon14:c.G3104A:p.R1035Q,PPP1R9A:NM_001166162:exon14:c.G3158A:p.R1053Q,PPP1R9A:NM_001166160:exon16:c.G3224A:p.R1075Q	.	429	1088	5	0	0	5	0.00229253	.	.	.	2208754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0120852813618	0.0003	0.000199681	0.0001	0.0004	0	0.0003	0	9.609e-05	0	9.946e-05	8.41e-05	13	154602	rs370590319	7.417e-05	7.73e-05	7.51e-05	7.323e-05	0.0002	6.254e-05	5.83e-05	5.906e-05	5.333e-05	0.0002	4.686e-05	0	2.56e-05	0.0001	0.0002	7.084e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.735e-05	8.25e-05	9.536e-05	6.942e-05	0.0002	0	0.0001	0	0.0004	9.422e-05	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.063	0.51421	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-1.75	0.42957	N	0.342	0.38335	-1.0780	0.07741	T	0.073	0.29515	T	9	0.08422974	0.14094	T	0.012085	0.30328	T	0.031	0.07369	.	.	0.44711355012	0.44333	0.30597843571679734	0.30510	0.197282521913	0.22105	0.363617181778	0.19911	T	.	.	.	-0.407343	0.02071	T	-0.530747	0.19212	T	0.336640030145645	0.26490	T	0.938306	0.79675	D	.	.	.	.	.	.	.	.	-6.434	0.51471	T	.	.	0.079	0.16010	B	.;.;.;.	.;.;.;.	3.911742	0.57055	23.8	0.99947758910056783	0.99923	0.91652	0.53976	D	AEFBI	0.322403	0.42490	N	0.0114955654821751	0.42378	2.552197	0.10462014464701	0.44784	2.753552	0.998020112087586	0.36327	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	3.71	0.41733	2.416000	0.44298	3.359000	0.37844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0807:0.0:0.9193:0.0	12.204	0.53653	864	0.32732	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	33	chr7	95274096	.	G	A	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=708;ExcessHet=0;FS=1.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.335;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	18	0	1	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.05263	2152.83	87	chr7	95311568	.	A	C	2152.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.94;DP=756;ExcessHet=0.119;FS=2.909;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=2.41;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	17	0	2	0
chr7	95592856	95592856	A	G	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.T433C:p.C145R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00659785767961	.	0.000199681	1.649e-05	0	0	0	0	3e-05	0	0	1.94e-05	3	154602	rs538664118	2.055e-05	2.052e-05	1.5e-05	2.616e-05	3.482e-05	1.458e-05	1.265e-05	1.379e-05	1.152e-05	0	0	0	0	5.622e-05	0	2.072e-05	1.658e-05	3.482e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.382	0.11120	T	0.37	0.16473	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	D	0.176222	0.992898	0.23807	N	-0.695	0.01866	N	1.67	0.27331	T	0.5	0.02945	N	0.616	0.63204	-1.0396	0.17434	T	0.028	0.11838	T	10	0.28617668	0.46200	T	0.006598	0.17415	T	0.143	0.38195	0.566	0.68768	0.389750110748	0.38591	0.5800062812442394	0.57929	0.192581990809	0.21586	0.51345038414	0.40705	T	0.061123	0.31569	T	-0.162166	0.26428	T	-0.455231	0.27120	T	0.403162717819214	0.29061	T	0.913709	0.69301	D	0.7402161	0.80305	0.39278656	0.64015	0.7402161	0.80306	0.39278656	0.64014	-4.071	0.24861	T	.	.	0.136	0.29642	B	.	.	3.711879	0.53000	23.3	0.93279466259188271	0.22982	0.82132	0.41407	D	AEFGBCI	0.933531	0.92556	D	-0.275238181170142	0.30107	1.675763	-0.000231536914673057	0.39707	2.358343	0.999999996388682	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	4.32	0.50899	6.259000	0.72455	6.745000	0.56495	0.756000	0.94297	0.995000	0.38783	0.962000	0.29361	0.993000	0.69303	0.8686:0.1314:0.0:0.0	13.251	0.59481	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	35	chr7	95592856	.	A	G	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.098;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.05263	3940.83	35	chr7	95592889	.	T	C	3940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.396;DP=979;ExcessHet=0.119;FS=0.845;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.16;SOR=0.637	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr7	97020967	97020967	C	T	exonic	DLX5	.	nonsynonymous SNV	DLX5:NM_005221:exon3:c.G639A:p.M213I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.163721524293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.375	0.16231	T	0.65	0.40644	P	0.244	0.38795	B	0.000000	0.84330	D	0.077482	1	0.81001	D	2.57	0.75187	M	-2.47	0.88997	D	-2.64	0.56630	D	0.505	0.53708	0.259	0.86900	D	0.664	0.88351	D	10	0.56057286	0.64764	D	0.163722	0.84299	D	0.510	0.78971	0.181	0.08877	0.845448832506	0.84397	0.527979313041861	0.52721	0.821256584542	0.67188	0.73449331522	0.72164	T	0.539997	0.84233	D	0.202574	0.74132	D	0.0532074	0.73796	D	0.959468245506287	0.65541	D	0.909509	0.67973	D	0.5435138	0.69593	0.56731963	0.74952	0.5435138	0.69594	0.56731963	0.74953	-4.729	0.33754	T	0.3437996557606842	0.44140	0.968	0.89154	P	.;.	.;.	4.827517	0.78691	26.9	0.98681973380670107	0.44624	0.97200	0.73280	D	AEFDBCI	0.883341	0.81216	D	0.456330723985142	0.64563	4.713698	0.521401877549672	0.69433	5.359602	0.999999941005407	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	5.08	5.08	0.68373	7.871000	0.85545	7.666000	0.64515	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.677	0.91491	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1792.33	35	chr7	97020967	.	C	T	1792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.292;DP=746;ExcessHet=0;FS=2.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.151;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1234	18	0	1	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	299.66	49	chr7	97990042	.	A	C	299.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.512;DP=1913;ExcessHet=0.119;FS=185.691;InbreedingCoeff=-0.0954;MLEAC=2;MLEAF=0.056;MQ=59.84;MQRankSum=0.493;QD=1.1;ReadPosRankSum=3.92;SOR=8.086	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,105,1575	16	0	2	1
chr7	98212530	98212530	T	A	exonic	BHLHA15	.	nonsynonymous SNV	BHLHA15:NM_177455:exon2:c.T221A:p.I74N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.721924741473	.	.	2.635e-05	0	0	0	0	5.001e-05	0	0	6.5e-06	1	154602	rs745635384	2.082e-06	2.052e-06	2.754e-06	1.399e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.054e-07	0	1.21e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.087	0.40747	T	0.003	0.11197	B	0.004	0.10090	B	0.326371	0.14187	N	0.673055	1	0.08975	N	0.345	0.11182	N	-3.14	0.92884	D	1.2	0.01078	N	0.209	0.23253	-0.6662	0.62000	T	0.425	0.76863	T	10	0.12317708	0.23378	T	0.721925	0.97752	D	0.142	0.37995	0.234	0.16305	0.348983352498	0.34513	0.46993354897488004	0.46912	1.25464454883	0.81874	0.841396927834	0.88307	D	0.133762	0.46463	T	-0.0536813	0.43886	T	-0.314886	0.43132	T	0.0323010005587752	0.02355	T	0.19798	0.02209	T	0.05443967	0.10444	0.0695477	0.14668	0.05443967	0.10444	0.0695477	0.14667	-7.866	0.60153	D	.	.	0.225	0.45629	B	.;.	.;.	0.969083	0.13460	9.970	0.88298896210100963	0.17868	0.50378	0.28649	D	AEFDBCI	0.217136	0.34230	N	-1.02743675132891	0.08037	0.3754644	-0.934904998843935	0.11274	0.5733461	0.998837816643202	0.37777	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.39	1.79	0.23992	1.368000	0.33820	0.340000	0.17371	-0.939000	0.02101	0.091000	0.22601	0.000000	0.08366	0.023000	0.12082	0.1683:0.1848:0.0:0.6468	3.384	0.06842	839	0.37672	Myc-type, basic helix-loop-helix (bHLH) domain;Myc-type, basic helix-loop-helix (bHLH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1017.33	38	chr7	98212530	.	T	A	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=739;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.261;SOR=0.996	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1333	18	0	1	0
chr7	98229116	98229116	C	T	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon16:c.G2333A:p.R778Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00403952473499	8.3e-05	.	0.0001	0.0004	0	0.0008	0	7.275e-05	0	0	3.23e-05	5	154602	rs375317554	1.128e-05	1.3e-05	1.395e-05	8.549e-06	0.0002	6.68e-06	5.4e-06	2.098e-05	1.081e-05	0	7.914e-05	0	5.417e-05	0	0.0002	5.5e-06	3.4e-05	2.479e-05	7.884e-05	7.88e-05	2.569e-05	0.0001	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.381	0.11156	T	0.345	0.17750	T	0.02	0.18235	B	0.002	0.06944	B	0.870571	0.07173	N	1.059090	1	0.08975	N	1.245	0.31408	L	1.55	0.29866	T	-0.42	0.14193	N	0.161	0.16864	-0.9808	0.34817	T	0.054	0.22846	T	10	0.025984108	0.00777	T	0.00404	0.09618	T	0.073	0.21317	.	.	0.199424873507	0.19547	0.33744716363924704	0.33657	0.267066220627	0.29244	0.208299353719	0.00741	T	0.010809	0.09719	T	-0.51198	0.00489	T	-0.708772	0.05358	T	0.00669787369648886	0.00075	T	0.812919	0.46506	T	0.035172272	0.04089	0.03855092	0.03748	0.035172272	0.04089	0.03855092	0.03747	-2.879	0.08935	T	.	.	0.069	0.03128	B	.	.	1.271973	0.16708	12.71	0.87182909972078593	0.17046	0.06397	0.12400	N	AEFBI	0.076454	0.15381	N	-1.43967033454295	0.02299	0.1013707	-1.44795094823646	0.02789	0.1289079	0.929660194896987	0.26977	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.13	-3.41	0.04535	0.246000	0.17935	0.332000	0.17294	-0.888000	0.02403	0.014000	0.18986	0.027000	0.21108	0.622000	0.31948	0.0:0.3637:0.0:0.6363	12.563	0.55643	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	228.33	34	chr7	98229116	.	C	T	228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=0;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	18	0	1	0
chr7	98231931	98231931	T	C	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon13:c.A1847G:p.Q616R	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00881772081889	0.0006	0.000798722	0.0009	0.0001	0.0013	0.0001	0	0.0013	0.0047	0.0001	0.000815	126	154602	rs200666526	0.0008	0.0008	0.0007	0.0009	0.0328	0.0008	0.0007	0.0289	0.0275	0.0010	0.0018	0.0075	2.519e-05	0.0001	0.0328	0.0005	0.0019	0.0002	0.0009	0.0009	0.0007	0.0010	0.0022	0.0007	0.0007	0.0016	0.0014	0.0001	0	0.0022	0.0089	0	0	0.0340	0.0006	0.0024	0.0008	0.61	0.05468	T	0.619	0.07468	T	0.462	0.36386	P	0.065	0.27321	B	0.000001	0.84330	D	0.056675	0.828148	0.34877	D	1.425	0.35738	L	1.59	0.28836	T	-0.46	0.14978	N	0.662	0.67132	-1.0275	0.21266	T	0.062	0.25994	T	10	0.013862371	0.00293	T	0.008818	0.23269	T	0.100	0.28662	.	.	0.424313518543	0.42050	0.6212498546811588	0.62057	0.309223776046	0.33236	0.549592912197	0.45801	T	0.021553	0.16761	T	-0.368161	0.03688	T	-0.326241	0.41887	T	0.0416783035334119	0.03997	T	0.868113	0.56980	D	0.16995272	0.37541	0.165263	0.38241	0.16995272	0.37541	0.165263	0.38240	-8.864	0.66817	D	.	.	0.122	0.25560	B	.	.	2.874526	0.38022	20.6	0.79589494619206147	0.12810	0.81879	0.41197	D	AEFDBCI	0.424505	0.48965	N	0.00497638785586558	0.42082	2.52884	0.1456061152696	0.46910	2.929386	0.997809960966669	0.36050	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.082000	0.57357	4.889000	0.45745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.0:1.0	14.933	0.70577	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.010101	0.024457	0.052632	0.000000	0.034483	0.003049	0.000000	0.02632	1277.33	40	chr7	98231931	.	T	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.48;DP=743;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.091;SOR=0.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1261	18	0	1	0
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009639	0.013889	0.000000	0.004464	0.000000	0.000000	0.021127	0.021277	0.02632	989.33	34	chr7	98617646	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-0.422;SOR=0.617	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1209	18	0	1	0
chr7	99005219	99005219	T	C	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_003496:exon67:c.T10495C:p.Y3499H,TRRAP:NM_001244580:exon68:c.T10582C:p.Y3528H,TRRAP:NM_001375524:exon69:c.T10624C:p.Y3542H	.	.	.	.	.	.	.	.	.	.	.	1275349	not_provided|Developmental_delay_with_or_without_dysmorphic_facies_and_autism	MedGen:C3661900|MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.927	0.159940102319	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs199577454	2.394e-05	2.394e-05	2.586e-05	2.2e-05	0.0038	1.739e-05	1.539e-05	0.0026	0.0022	0	0	0	0	0	0.0038	9.892e-06	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.119592	1	0.81001	D	2.44	0.70756	M	-1.52	0.81478	D	-3.76	0.71276	D	0.955	0.96416	0.539	0.91093	D	0.697	0.89543	D	10	0.8979465	0.89152	D	0.15994	0.84004	D	0.927	0.98229	0.669	0.80703	0.868594633239	0.86731	0.9383716600042861	0.93818	2.5862836791	0.98110	0.939507782459	0.99437	D	0.842093	0.96326	D	0.351018	0.86574	D	0.36329	0.90824	D	0.984081029891968	0.75517	D	0.962704	0.86724	D	0.22276928	0.44883	0.27161953	0.53065	0.22276928	0.44883	0.27161953	0.53064	-9.887	0.73232	D	0.9850787811356978	0.99605	0.994	0.94895	P	.;.;.;.	.;.;.;.	4.123843	0.61658	24.4	0.99810149683419847	0.89442	0.98908	0.88470	D	AEFDBI	0.878933	0.80451	D	0.818318099814755	0.87235	9.14914	0.770892712403956	0.87709	9.316189	0.999999999661814	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.642000	0.82531	7.857000	0.71250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:0.0:1.0	15.880	0.78980	285	0.88719	Phosphatidylinositol 3-/4-kinase, catalytic domain;.;Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	2184.33	33	chr7	99005219	.	T	C	2184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=814;ExcessHet=0;FS=0.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.377;SOR=0.768	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1467	18	0	1	0
chr7	99392716	99392716	G	A	exonic	ARPC1B	.	nonsynonymous SNV	ARPC1B:NM_005720:exon8:c.G829A:p.G277R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.104906562759	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	2.15e-06	3.42e-06	2.827e-06	1.454e-06	1.264e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.857e-06	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.039	0.51112	D	0.987	0.61912	D	0.899	0.63802	P	0.001443	0.38980	N	0.279033	0.915765	0.27407	N	2.63	0.76995	M	-0.15	0.65192	T	-2.9	0.60827	D	0.529	0.55799	-0.4468	0.70505	T	0.360	0.72193	T	10	0.35679755	0.52410	T	0.104907	0.77974	D	0.260	0.57221	0.396	0.42262	0.77622490962	0.77416	0.740391240046675	0.73984	0.887556139356	0.70071	0.622993290424	0.56152	T	0.245152	0.61440	T	-0.0366349	0.46448	T	-0.2904	0.45731	T	0.932540453324081	0.59865	D	0.915608	0.69895	D	0.19453306	0.41206	0.13657305	0.32668	0.19453306	0.41206	0.13657305	0.32667	-7.623	0.58471	D	0.377076116341447	0.47194	0.410	0.66073	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.264087	0.64821	24.8	0.99611663796704963	0.74873	0.89712	0.50354	D	ALL	0.730438	0.67783	D	0.223182620418389	0.52324	3.407305	0.0702371448854139	0.43061	2.615681	0.999999996241443	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.07	3.26	0.36471	6.697000	0.74428	8.668000	0.77998	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.142000	0.20019	0.1519:0.0:0.8481:0.0	11.181	0.47854	500	0.76024	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	998.33	35	chr7	99392716	.	G	A	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=699;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.78;SOR=0.56	GT:AD:DP:GQ:PL	0/1:35,37:72:99:1012,0,820	18	0	1	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T,ATP5MF-PTCD1:NM_001198879:exon7:c.G1429A:p.A477T	.	419	1069	34	0	0	34	0.0156538	.	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.006793	0.005848	0.000000	0.008621	0.006098	0.007576	0.05263	3055.83	37	chr7	99425250	.	C	T	3055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=824;ExcessHet=0.119;FS=1.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.911;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	17	0	2	0
chr7	99434948	99434948	G	A	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon2:c.C295T:p.R99W,ATP5MF-PTCD1:NM_001198879:exon3:c.C442T:p.R148W	.	400	1120	2	0	0	2	0.000892061	.	.	.	215373	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.638	0.262661937872	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	0	0.0001488	23	154602	rs201365604	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0001	0.0013	7.557e-05	0	0.0014	0.0001	0.0004	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.152e-05	7.706e-05	0.0001	8.875e-05	4.827e-05	0	0.0001	0.0012	0	0	0	0.0002	0	0	0.001	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	2.615	0.76484	M	-0.68	0.91019	T	-4.94	0.94958	D	0.761	0.75927	0.770	0.94038	D	0.832	0.94352	D	10	0.57133293	0.65336	D	0.262662	0.89570	D	0.638	0.86181	.	.	0.987173889608	0.98703	0.6688917812345584	0.66827	0.509973532832	0.49129	0.488442182541	0.37222	T	0.136792	0.46937	T	0.178501	0.71906	D	0.316188	0.88930	D	0.47744208574295	0.31804	T	0.910709	0.70760	D	0.40695307	0.61211	0.37428138	0.62597	0.40695307	0.61212	0.37428138	0.62597	-11.319	0.81378	D	.	.	0.285	0.60751	B	.;.;.;.;.	.;.;.;.;.	4.525665	0.71002	25.6	0.99907702742454452	0.97801	0.94654	0.61875	D	AEFBI	0.666696	0.63507	D	0.414182717814472	0.62200	4.432306	0.308640494426258	0.56046	3.76759	0.00194152590693704	0.09028	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.674467	0.66132	0	.	.	5.97	2.85	0.32333	2.193000	0.42291	4.494000	0.43583	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:0.3101:0.6899	14.107	0.64628	394	0.83065	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1355.33	37	chr7	99434948	.	G	A	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=811;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.21;SOR=0.833	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1146	18	0	1	0
chr7	99506111	99506111	G	A	exonic	ZKSCAN5	.	nonsynonymous SNV	ZKSCAN5:NM_001318082:exon2:c.G67A:p.E23K,ZKSCAN5:NM_001318083:exon2:c.G67A:p.E23K,ZKSCAN5:NM_014569:exon2:c.G67A:p.E23K,ZKSCAN5:NM_145102:exon2:c.G67A:p.E23K	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00599908789703	7.7e-05	.	0.0005	0	8.645e-05	0	0	2.998e-05	0.0022	0.0032	0.0003687	57	154602	rs371090562	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0001	0.0039	7.879e-05	7.874e-05	1.285e-05	0.0001	0.0025	4.493e-05	3.51e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.043	0.41364	D	0.016	0.60972	D	0.455	0.36245	P	0.111	0.31539	B	0.001793	0.37998	N	0.118422	0.904579	0.27633	N	2.72	0.79541	M	3.3	0.06368	T	-1.42	0.34992	N	0.277	0.31365	-1.0642	0.10736	T	0.025	0.10821	T	10	0.00969252	0.00218	T	0.005999	0.15668	T	0.088	0.25558	.	.	0.585653999902	0.58239	0.49739089849747825	0.49660	0.511807434683	0.49245	0.482318043709	0.36377	T	0.058714	0.30917	T	-0.457879	0.01013	T	-0.433224	0.29570	T	0.0905482601935388	0.11284	T	0.167383	0.01560	T	0.19092715	0.40698	0.18723531	0.41943	0.19092715	0.40698	0.18723531	0.41942	-6.554	0.50701	T	.	.	0.163	0.35992	B	.;.;.	.;.;.	4.013045	0.59210	24.1	0.99909402415945037	0.97949	0.85466	0.44601	D	AEFDGBCI	0.247831	0.36834	N	0.302432180864588	0.56273	3.791787	0.364936357601082	0.59413	4.118826	0.999999999999152	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.581341	0.30212	0	0.627883	0.49187	0	.	.	4.83	4.83	0.61880	3.246000	0.51115	8.308000	0.76942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	13.619	0.61593	326	0.86709	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1947.33	33	chr7	99506111	.	G	A	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.544;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.369;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1324	18	0	1	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	36	chr7	99563862	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=701;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.313;SOR=0.302	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	18	0	1	0
chr7	99607679	99607679	G	A	exonic	TMEM225B	.	nonsynonymous SNV	TMEM225B:NM_001195541:exon5:c.G362A:p.C121Y,TMEM225B:NM_001195542:exon5:c.G362A:p.C121Y,TMEM225B:NM_001195543:exon5:c.G362A:p.C121Y	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.891e-06	2.736e-06	1.427e-06	4.395e-06	1.263e-05	6.8e-07	4.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	1.727e-05	1.263e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24603784	0.41862	T	.	.	.	.	.	.	.	.	.	0.4769676832104622	0.47616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571443	0.20372	T	0.25102925	0.48108	0.4850096	0.70190	0.25102925	0.48108	0.4850096	0.70191	-8.115	0.61852	D	.	.	0.775	0.76161	P	.;.	.;.	3.278873	0.44915	22.0	0.85873812496627833	0.16166	0.07716	0.13718	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.952379724726287	0.28012	0.080785	0.02172	0	0.084543	0.02171	0	0.121075	0.03231	0	0.10565	0.03146	0	0.0581383	0.13913	3.5	0.568	0.16518	1.481000	0.35083	5.879000	0.50621	0.676000	0.76740	0.620000	0.27914	1.000000	0.68203	0.810000	0.38174	0.1153:0.4016:0.4831:0.0	5.486	0.16042	146	0.94180	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	903.33	35	chr7	99607679	.	G	A	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.818;DP=690;ExcessHet=0;FS=10.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.617;SOR=0.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	18	0	1	0
chr7	99665259	99665259	T	C	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.A577G:p.I193V,CYP3A5:NM_001291829:exon8:c.A238G:p.I80V,CYP3A5:NM_001291830:exon8:c.A547G:p.I183V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0136273423735	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370657167	6.156e-06	6.156e-06	8.167e-06	4.125e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.724	0.03880	T	0.988	0.02376	T	0.0	0.02946	B	0.002	0.06944	B	0.000143	0.49130	N	0.205064	1	0.81001	D	-0.12	0.04575	N	-0.31	0.68030	T	-0.15	0.09297	N	0.043	0.01577	-1.0156	0.25143	T	0.088	0.34133	T	10	0.075491965	0.11673	T	0.013627	0.33179	T	0.116	0.32463	0.64	0.77687	0.474722520063	0.47101	0.39442954219600573	0.39357	0.174241393469	0.19618	.	.	.	0.006068	0.05507	T	-0.236113	0.15849	T	-0.576936	0.14820	T	0.0467327123412175	0.04917	T	0.675932	0.28448	T	0.05300034	0.09966	0.04607512	0.06342	0.05300034	0.09965	0.04607512	0.06341	-6.154	0.47550	T	.	.	0.082	0.08899	B	.	.	-0.249942	0.02846	0.399	0.56577059287099596	0.05582	0.13812	0.18065	N	AEFGBCI	0.119320	0.23293	N	-1.46855884381392	0.02075	0.09125561	-1.47199601812314	0.02577	0.1187371	0.997884106344825	0.36150	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.84	-2.13	0.06745	-0.090000	0.11129	-12.077000	0.00552	0.665000	0.62972	0.118000	0.23139	0.000000	0.08366	0.027000	0.12703	0.0:0.6567:0.0:0.3433	9.204	0.36437	78	0.96748	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3244.33	33	chr7	99665259	.	T	C	3244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=881;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.73;SOR=0.533	GT:AD:DP:GQ:PL	0/1:128,133:261:99:3258,0,3160	18	0	1	0
chr7	99665274	99665274	A	T	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.T562A:p.S188T,CYP3A5:NM_001291829:exon8:c.T223A:p.S75T,CYP3A5:NM_001291830:exon8:c.T532A:p.S178T	.	560	961	1	0	0	1	0.000520021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0103023343054	0.0002	.	0.0002	0	8.646e-05	0	0	0.0004	0	0	0.0001876	29	154602	rs202148429	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	0.0012	0	0	0.0016	0.0001	0.0004	2.319e-05	9.856e-05	9.85e-05	0.0001	8.069e-05	0.0002	6.007e-05	4.88e-05	0.0001	7.894e-05	0	0	6.547e-05	0.0006	0	0	0	0.0002	0	0	0.03	0.45393	D	0.021	0.58089	D	0.038	0.21002	B	0.032	0.22131	B	0.000178	0.48594	D	0.183655	0.981021	0.81001	D	3.345	0.91022	M	-0.26	0.67187	T	-2.35	0.51968	N	0.273	0.30914	-0.7025	0.60318	T	0.259	0.63021	T	10	0.14477989	0.27471	T	0.010302	0.26676	T	0.175	0.44197	.	.	0.724680275035	0.72224	0.7609015571266714	0.76038	0.20624922112	0.23047	.	.	.	0.041681	0.25939	T	-0.267934	0.11989	T	-0.320924	0.42474	T	0.0815255383413506	0.10181	T	0.769823	0.39947	T	0.5144722	0.67941	0.5064981	0.71478	0.5144722	0.67942	0.5064981	0.71478	-10.986	0.79582	D	.	.	0.200	0.42390	B	.	.	2.334688	0.29912	18.27	0.9597973327737801	0.28354	0.74907	0.36656	D	AEFGBCIJ	0.435014	0.49583	N	-0.30503238458516	0.28955	1.601575	-0.286524330831977	0.28541	1.592208	0.999961042596158	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.83	2.64	0.30504	2.107000	0.41468	-1.073000	0.06414	0.756000	0.94297	0.927000	0.32177	0.000000	0.08366	0.392000	0.26603	0.8068:0.1932:0.0:0.0	8.686	0.33398	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3434.33	33	chr7	99665274	.	A	T	3434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=899;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.31;SOR=0.578	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	99676187	99676187	-	C	exonic	CYP3A5	.	frameshift insertion	CYP3A5:NM_000777:exon2:c.92dupG:p.L32Tfs*3,CYP3A5:NM_001190484:exon2:c.92dupG:p.L32Tfs*3,CYP3A5:NM_001291830:exon3:c.62dupG:p.L22Tfs*3	.	424	1076	22	0	0	22	0.0101196	.	.	.	2825915	CYP3A5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0010758	28	26028	rs200579169	0.0081	0.0081	0.0081	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0059	0.0059	0.0059	0.0059	0.0058	0.0094	0.0056	0.0054	0.0088	0.0085	0.0016	0	0.0063	0.0061	0	0.0026	0.0170	0.0094	0.0071	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.02632	3116.29	36	chr7	99676187	.	T	TC	3116.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.257;DP=790;ExcessHet=0;FS=2.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=-0.925;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1274:.	18	0	1	0
chr7	99676192	99676192	G	A	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon2:c.C88T:p.H30Y,CYP3A5:NM_001190484:exon2:c.C88T:p.H30Y,CYP3A5:NM_001291830:exon3:c.C58T:p.H20Y	.	423	1077	22	0	0	22	0.0101103	.	.	.	2825916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0068	0.00339457	0.0075	0.0014	0.0034	0	0.0045	0.0110	0.0022	0.0054	0.0072121	1115	154602	rs28383468	0.0081	0.0081	0.0082	0.0080	0.0091	0.0079	0.0079	0.0090	0.0089	0.0012	0.0047	0.0071	2.52e-05	0.0042	0.0069	0.0091	0.0074	0.0060	0.0059	0.0059	0.0060	0.0058	0.0094	0.0056	0.0055	0.0088	0.0086	0.0016	0	0.0063	0.0060	0	0.0026	0.0170	0.0094	0.0071	0.0054	0.549	0.09486	T	1.0	0.16570	T	0.004	0.12183	B	0.012	0.16012	B	0.003281	0.35154	N	0.279306	1	0.08975	N	1.205	0.30389	L	3.04	0.08810	T	-1.73	0.68532	N	0.163	0.17553	-0.9473	0.41431	T	0.011	0.04274	T	10	0.004989326	0.00107	T	.	.	.	0.071	0.20720	.	.	0.163833314356	0.15978	0.8439105298094285	0.84352	0.245701231888	0.27094	.	.	.	0.004418	0.03828	T	-0.612135	0.00123	T	-0.644104	0.09373	T	0.00456155968340414	0.00049	T	0.811819	0.46320	T	0.048797607	0.08563	0.07286222	0.15767	0.048797607	0.08562	0.07286222	0.15767	-6.595	0.51015	T	.	.	0.136	0.29697	B	.;.	.;.	1.234343	0.16293	12.45	0.30315832732645831	0.01652	0.03138	0.08093	N	AEFBI	0.225843	0.34988	N	-1.31597404548288	0.03492	0.1560738	-1.31013412846963	0.04298	0.2024405	0.839449184831597	0.24839	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.78	1.87	0.24559	1.596000	0.36329	-0.031000	0.12795	-0.129000	0.13216	0.064000	0.21895	0.000000	0.08366	0.367000	0.26044	0.2274:0.0:0.7726:0.0	8.276	0.31035	76	0.96806	.;.	MOSPD3|TRIM4|GPC2|CYP3A4|STAG3	Adrenal_Gland|Colon_Transverse|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	rs28383468	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.02632	3097.33	36	chr7	99676192	.	G	A	3097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=790;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=-0.536;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1274:.	18	0	1	0
chr7	99715815	99715815	C	T	exonic	CYP3A7;CYP3A7-CYP3A51P	.	nonsynonymous SNV	CYP3A7:NM_000765:exon7:c.G613A:p.E205K,CYP3A7-CYP3A51P:NM_001256497:exon7:c.G613A:p.E205K	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0174488889623	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs546078547	0.0001	0.0001	5.582e-05	0.0002	0.0017	9.2e-05	8.666e-05	0.0015	0.0014	2.989e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0017	3.941e-05	4.593e-05	1.285e-05	6.716e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	0.625	0.05229	T	0.873	0.03898	T	0.0	0.02946	B	0.002	0.06944	B	0.139832	0.18330	N	0.607393	1	0.08975	N	0.205	0.09354	N	-0.23	0.66652	T	-0.62	0.18248	N	0.204	0.22614	-1.0107	0.26698	T	0.085	0.33071	T	10	0.008140326	0.00185	T	0.017449	0.39153	T	0.053	0.14996	0.462	0.53079	0.391156786388	0.38726	0.552410353801837	0.55167	0.14433657637	0.16299	0.251646697521	0.03943	T	0.089586	0.38404	T	-0.564966	0.00237	T	-0.591575	0.13530	T	0.00609747600469235	0.00067	T	0.867113	0.56785	D	0.04523192	0.07368	0.08623859	0.19965	0.04523192	0.07368	0.08623859	0.19965	-8.335	0.63331	D	.	.	0.130	0.28578	B	.;.;.	.;.;.	0.453715	0.08239	4.977	0.68865164819364721	0.08791	0.01294	0.04502	N	AEFI	0.117126	0.22958	N	-1.47198821166534	0.02050	0.09010059	-1.47632035261607	0.02539	0.1169761	0.00729051426291692	0.11429	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.22	-2.14	0.06725	-0.361000	0.07664	-6.717000	0.01324	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2175:0.1907:0.5918	5.793	0.17637	87	0.96348	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3460.33	33	chr7	99715815	.	C	T	3460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=868;ExcessHet=0;FS=2.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=1.27;QD=14.6;ReadPosRankSum=-1.29;SOR=0.849	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1393	18	0	1	0
chr7	99769769	99769769	C	G	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon6:c.G520C:p.D174H,CYP3A4:NM_017460:exon6:c.G520C:p.D174H	.	427	1090	5	0	0	5	0.00228833	0	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0245461703374	0.0032	0.00179712	0.0017	0.0017	0.0003	0.0001	0.0006	0.0024	0.0011	0.0012	0.0018434	285	154602	rs4986908	0.0040	0.0040	0.0042	0.0038	0.0048	0.0039	0.0039	0.0047	0.0047	0.0013	0.0009	3.828e-05	0	0.0005	0.0007	0.0048	0.0035	0.0014	0.0024	0.0024	0.0028	0.0019	0.0040	0.0022	0.0021	0.0036	0.0034	0.0014	0.0011	0.0009	0	0.0002	0.0007	0	0.0040	0.0014	0.0008	0.079	0.33753	T	0.043	0.49942	D	0.008	0.14655	B	0.04	0.23831	B	0.037999	0.24336	N	0.485181	0.999855	0.81001	D	3.415	0.91848	M	-0.42	0.69536	T	-3.84	0.72240	D	0.332	0.37301	-0.6619	0.62192	T	0.246	0.61553	T	10	0.013969451	0.00295	T	0.024546	0.47537	T	0.152	0.39956	.	.	0.811776346281	0.81000	.	.	0.107106922556	0.12097	0.424553632736	0.28463	T	0.48166	0.81013	T	-0.413822	0.01875	T	-0.3668	0.37263	T	0.0756701521703145	0.09425	T	0.433757	0.11839	T	0.33092234	0.55547	0.19783507	0.43585	0.33092234	0.55547	0.19783507	0.43584	-6.797	0.52537	T	.	.	0.217	0.44732	B	.	.	2.018796	0.25655	16.84	0.92861878889067839	0.22404	0.93106	0.57343	D	AEFGBI	0.709109	0.66330	D	-0.224980884461871	0.32111	1.807505	-0.220982301351927	0.30785	1.736357	2.86145777382798E-5	0.03498	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.6	2.77	0.31614	1.054000	0.30064	-3.226000	0.02955	-0.231000	0.07715	1.000000	0.71638	0.000000	0.08366	0.086000	0.17578	0.0:0.6922:0.0:0.3078	6.648	0.22138	132	0.94697	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2537.33	37	chr7	99769769	.	C	G	2537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.52;DP=858;ExcessHet=0;FS=3.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.18;MQRankSum=-6.968;QD=12.38;ReadPosRankSum=0.538;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr7	99929024	99929024	G	T	exonic	GJC3	.	nonsynonymous SNV	GJC3:NM_181538:exon1:c.C597A:p.S199R	.	420	1078	22	2	0	26	0.0119157	.	.	.	3207079	GJC3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.649	0.0338940112518	0.0004	0.00199681	0.0015	9.619e-05	0.0008	0	0	0.0007	0.0066	0.0073	0.0013454	208	154602	rs143828671	0.0008	0.0008	0.0006	0.0011	0.0074	0.0008	0.0008	0.0069	0.0067	0.0002	0.0007	3.826e-05	2.519e-05	1.873e-05	0.0052	0.0004	0.0013	0.0074	0.0008	0.0008	0.0006	0.0010	0.0077	0.0007	0.0006	0.0057	0.0050	9.628e-05	0	0.0026	0.0003	0	0	0.0034	0.0005	0.0024	0.0077	0.001	0.78490	D	0.004	0.74150	D	0.968	0.56581	D	0.811	0.58656	P	0.024538	0.26246	N	0.268702	0.759938	0.29550	N	3.4	0.91674	M	-4.13	0.96745	D	-4.11	0.74980	D	0.592	0.61172	0.679	0.92917	D	0.864	0.95458	D	10	0.01462695	0.00307	T	0.033894	0.55304	D	0.649	0.86736	0.75	0.88071	0.7585010053	0.75631	0.8756277835908375	0.87529	0.874496061904	0.69519	0.390606582165	0.23755	T	0.924153	0.98665	D	-0.0710802	0.41155	T	0.128429	0.78790	D	0.130437042998939	0.15423	T	0.813219	0.46599	T	0.87278634	0.89083	0.6011226	0.76826	0.87278634	0.89084	0.6011226	0.76827	-11.539	0.82533	D	.	.	0.91	0.83446	P	.	.	2.021574	0.25690	16.85	0.99572991201438088	0.72501	0.32091	0.24500	N	AEFDBCI	0.261174	0.37918	N	-0.297696488118648	0.29236	1.619588	-0.561055968315654	0.20513	1.105496	0.999931904597529	0.46732	0.65757	0.49021	0	0.596491	0.49125	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.54	-4.02	0.03764	0.016000	0.13272	-1.749000	0.04797	-0.063000	0.16611	0.002000	0.15269	0.000000	0.08366	0.319000	0.24947	0.4509:0.136:0.4131:0.0	6.696	0.22386	173	0.93306	Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.007576	0.02632	1083.33	39	chr7	99929024	.	G	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=729;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=2.09;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	18	0	1	0
chr7	99971946	99971946	G	A	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon2:c.C137T:p.A46V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0113832099142	7.7e-05	.	0.0001	0	8.639e-05	0.0001	0	5.999e-05	0	0.0004	8.41e-05	13	154602	rs142669146	8.619e-05	8.619e-05	4.901e-05	0.0001	0.0008	7.353e-05	6.903e-05	0.0007	0.0006	0	0	0	7.557e-05	5.616e-05	0	3.957e-05	6.623e-05	0.0008	6.573e-05	6.564e-05	2.573e-05	0.0001	0.0010	3.517e-05	2.617e-05	0.0004	0.0003	4.816e-05	0	0	0	0	9.438e-05	0	2.943e-05	0	0.0010	0.002	0.72154	D	0.005	0.72224	D	0.076	0.24253	B	0.011	0.15521	B	0.056538	0.02086	U	2.531660	1	0.08975	N	0.49	0.13296	N	-2.46	0.88924	D	-1.36	0.33798	N	0.113	0.21710	-1.0171	0.24657	T	0.047	0.20195	T	10	0.067263216	0.09345	T	0.011383	0.28946	T	0.216	0.50959	.	.	0.448099371145	0.44430	0.3521079997233675	0.35124	0.113506826482	0.12814	0.191668853164	0.00256	T	0.078283	0.35856	T	-0.302212	0.08453	T	-0.288666	0.45911	T	0.0199216742305377	0.00693	T	0.40106	0.10202	T	0.3076359	0.53581	0.121673144	0.29356	0.3076359	0.53581	0.121673144	0.29355	-5.14	0.38326	T	.	.	0.115	0.28406	B	.;.	.;.	0.212018	0.05954	2.395	0.80565273977518492	0.13263	0.00259	0.01419	N	AEFBI	0.124560	0.24067	N	-1.52823401622028	0.01666	0.0728863	-1.72247933386782	0.01042	0.04673096	7.52847063635583E-4	0.07758	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.51	-3.02	0.05116	-0.582000	0.05907	-0.665000	0.07962	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5104:0.1979:0.2917	4.349	0.10583	156	0.93906	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1116.33	43	chr7	99971946	.	G	A	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.902;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.503;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr7	99976005	99976005	G	A	exonic	AZGP1	.	nonsynonymous SNV	AZGP1:NM_001185:exon1:c.C16T:p.P6S	.	.	.	.	.	.	.	.	.	.	.	3294383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00226656436923	.	.	0.0002	0	0	0.0002	0	0.0002	0	0.0005	0.0001811	28	154602	rs151090185	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	4.472e-05	0	0.0002	3.744e-05	0	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0003	9.751e-05	8.264e-05	0.0002	0.0001	4.83e-05	0	6.547e-05	0	0	9.436e-05	0	0.0003	0	0	0.165	0.47745	T	0.335	0.33330	T	0.187	0.29285	B	0.021	0.19346	B	0.874029	0.08804	N	0.908575	0.999028	0.21700	N	1.98	0.53716	M	5.94	0.00616	T	-1.91	0.44471	N	0.145	0.21580	-0.9227	0.45182	T	0.003	0.00897	T	10	0.04113263	0.02741	T	0.002267	0.04342	T	0.030	0.07022	.	.	0.0920862733494	0.08535	0.4605464407067592	0.45972	0.114541801749	0.12917	0.392143905163	0.23972	T	0.12905	0.45709	T	-0.534393	0.00362	T	-0.669136	0.07664	T	0.0183913852487382	0.00557	T	0.356864	0.13720	T	0.043663207	0.06845	0.057486176	0.10459	0.043663207	0.06844	0.057486176	0.10458	-4.959	0.36392	T	.	.	0.122	0.27463	B	.;.	.;.	0.438930	0.08091	4.818	0.87853819212199002	0.17531	0.12982	0.17595	N	AEFDBHCI	0.195605	0.32263	N	-1.03068473686783	0.07972	0.3721809	-1.1077720413462	0.07551	0.36772	0.99999007013116	0.74766	0.653281	0.48532	0	0.596491	0.49125	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.17	0.15	0.14178	-0.037000	0.12116	2.247000	0.31658	-1.114000	0.01484	0.005000	0.17040	0.991000	0.31484	0.181000	0.21328	0.3475:0.0:0.6525:0.0	5.124	0.14207	155	0.93937	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001056	0.000000	0.000000	0.004065	0.000000	0.000000	0.000000	0.003788	0.02632	1608.33	33	chr7	99976005	.	G	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=760;ExcessHet=0;FS=0.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.53;MQRankSum=-0.92;QD=13.18;ReadPosRankSum=-0.988;SOR=0.815	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1414	18	0	1	0
chr7	100023865	100023865	G	A	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon2:c.G359A:p.R120H,ZKSCAN1:NM_003439:exon2:c.G359A:p.R120H,ZKSCAN1:NM_001346580:exon3:c.G251A:p.R84H,ZKSCAN1:NM_001346581:exon3:c.G359A:p.R120H,ZKSCAN1:NM_001287054:exon4:c.G251A:p.R84H	.	434	1086	2	0	0	2	0.000919963	.	.	.	4099512	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.00976095851935	.	.	0.0001	0	0.0005	0	0	6.054e-05	0.0011	0.0001	8.41e-05	13	154602	rs760995920	6.364e-05	6.362e-05	4.766e-05	7.978e-05	0.0026	5.297e-05	4.913e-05	0.0016	0.0013	0	0.0004	0	0	0.0002	0.0026	2.788e-05	0.0001	6.958e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.552e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.552e-05	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.471	0.12211	T	0.999	0.90584	D	0.991	0.84481	D	0.000129	0.49741	D	0.000000	0.928861	0.81001	D	-0.225	0.03956	N	3.43	0.05440	T	2.19	0.04947	N	0.245	0.31027	-0.9690	0.37407	T	0.018	0.07282	T	10	0.07483092	0.11488	T	0.009761	0.25472	T	0.267	0.58126	0.44	0.49484	0.657837784098	0.65497	0.5035634066487601	0.50278	1.56499820143	0.88101	0.486074835062	0.36895	T	0.015713	0.13127	T	-0.311552	0.07613	T	-0.351149	0.39074	T	0.111583270544385	0.13586	T	0.846915	0.60121	T	0.05800169	0.11615	0.03862442	0.03773	0.05800169	0.11615	0.03862442	0.03773	-3.053	0.10763	T	.	.	0.097	0.26357	B	.;.;.;.	.;.;.;.	4.132942	0.61862	24.4	0.80341311032696938	0.13157	0.82721	0.41910	D	AEFBCI	0.200505	0.32723	N	0.0820579115187075	0.45626	2.81605	0.153117975017281	0.47306	2.962926	0.999990061582415	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.63	4.63	0.57175	2.626000	0.46126	8.660000	0.77968	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	12.851	0.57246	122	0.95130	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	807.33	35	chr7	100023865	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.944;DP=695;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.482;SOR=0.4	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	18	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.02632	1369.33	34	chr7	100029881	.	C	G	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.88;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr7	100088992	100088992	-	GGCGGC	exonic	COPS6	.	nonframeshift insertion	COPS6:NM_006833:exon1:c.2_3insGGCGGC:p.A10_T11insAA	.	0	217	7	1	1	10	0.020316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0042	0	0	0	0	0.0013	0.0385	0.0352	0.0003752	58	154602	rs571882095	0.0055	0.0050	0.0054	0.0056	0.0132	0.0054	0.0054	0.0114	0.0110	0.0012	0.0036	0.0021	0.0003	0.0021	0.0132	0.0057	0.0046	0.0124	0.0035	0.0034	0.0036	0.0033	0.0104	0.0032	0.0031	0.0081	0.0073	0.0010	0	0.0020	0.0009	0.0004	0.0019	0.0034	0.0054	0.0057	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	286.29	33	chr7	100088992	.	T	TGGCGGC	286.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-1.93;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1030	18	0	1	0
chr7	100095805	100095805	G	C	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon10:c.C1036G:p.Q346E,MCM7:NM_182776:exon10:c.C1036G:p.Q346E,MCM7:NM_005916:exon11:c.C1564G:p.Q522E	.	.	.	.	.	.	.	.	.	.	.	3288876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00448896011619	0.0006	0.000199681	6.876e-05	0.0006	0	0.0002	0	0	0	0	5.82e-05	9	154602	rs139765463	3.04e-05	3.215e-05	3.155e-05	2.923e-05	0.0010	2.304e-05	2.052e-05	0.0007	0.0006	0.0010	2.255e-05	3.884e-05	2.536e-05	0	0	9.047e-07	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0.0006	0	0.0004	0	0	0	0	0	0.0005	0	0.014	0.59928	D	0.028	0.56192	D	0.96	0.55278	D	0.814	0.58796	P	0.000142	0.49130	D	0.148965	1	0.81001	D	2.265	0.64440	M	2.81	0.10975	T	-2.44	0.53420	N	0.493	0.54671	-1.2214	0.00049	T	0.063	0.26065	T	10	0.19689298	0.35599	T	0.004489	0.11031	T	0.188	0.46444	.	.	0.51721326083	0.51363	0.7016051214807674	0.70101	0.56785414273	0.53028	0.574732542038	0.49345	T	0.173458	0.52233	T	-0.238423	0.15550	T	-0.198287	0.54808	T	0.14235311911257	0.16475	T	0.979152	0.92959	D	0.80693775	0.84353	0.67920387	0.81154	0.80693775	0.84354	0.67920387	0.81155	-12.023	0.85967	D	0.5270819726202463	0.59848	0.198	0.50044	B	.;.;.	.;.;.	4.325122	0.66232	24.9	0.99498959862173908	0.67916	0.98989	0.89614	D	AEFDBCI	0.941955	0.94591	D	0.76190637916767	0.83676	8.080687	0.773872212671137	0.87922	9.393576	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	5.766000	0.68494	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.769	0.85392	176	0.93188	.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	885.33	43	chr7	100095805	.	G	C	885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=766;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-2.453;SOR=0.91	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	18	0	1	0
chr7	100099403	100099403	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_005916:exon4:c.G277A:p.V93M	.	.	.	.	.	.	.	.	0.5128	0.504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00279553	0.0013	0	0	0	0	0	0.0011	0.0092	0.0010802	167	154602	rs561088482	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0079	0	8.32e-05	0	2.642e-05	0	0	1.051e-05	0.0008	0.0087	0.0003	0.0003	0.0003	0.0004	0.0112	0.0003	0.0002	0.0087	0.0078	0	0	0	0	0	0	0	0	0	0.0112	0.055	0.38407	T	0.022	0.57587	D	0.846	0.46778	P	0.546	0.49068	P	0.006166	0.32222	N	0.303181	0.99996	0.81001	D	1.9	0.50570	L	2.92	0.09915	T	-1.78	0.42001	N	0.316	0.35620	-1.1440	0.01216	T	0.043	0.18535	T	10	0.009044826	0.00205	T	0.005875	0.15281	T	0.030	0.07022	0.325	0.30711	0.581723300495	0.57844	0.4944657379829891	0.49367	0.379934829083	0.39374	0.44226077199	0.30887	T	0.079506	0.36144	T	-0.222727	0.17623	T	-0.557708	0.16593	T	0.0735561939092899	0.09141	T	0.860314	0.55333	D	0.1695562	0.37479	0.21151567	0.45584	0.1695562	0.37478	0.21151567	0.45583	-5.469	0.41578	T	0.2522883173240269	0.34133	0.159	0.43200	B	.;.	.;.	3.388020	0.46898	22.4	0.99538018178394194	0.70336	0.64305	0.32364	D	AEFBC	0.265424	0.38256	N	0.239578939687011	0.53125	3.482914	0.221964985366146	0.51069	3.292603	0.999999607491803	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.39	4.39	0.52211	1.173000	0.31529	4.014000	0.41189	-0.190000	0.09434	0.998000	0.41325	1.000000	0.68203	0.344000	0.25523	0.0:1.0:0.0:0.0	14.496	0.67272	189	0.92630	.;MCM N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1020.41	37	chr7	100099403	.	C	T	1020.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=919;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0317;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.273;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:72:0,72,1080	18	0	1	0
chr7	100101724	100101724	C	T	exonic	AP4M1	.	stopgain	AP4M1:NM_001363671:exon1:c.C10T:p.Q4X,AP4M1:NM_004722:exon1:c.C10T:p.Q4X	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	969526	not_provided|Intellectual_disability|Hereditary_spastic_paraplegia_50	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.302e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs777220438	1.38e-06	1.368e-06	0	2.775e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	6.671e-06	6.643e-06	0	1.367e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607262	0.97712	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	8.889303	0.98165	39	0.99718634946466578	0.81843	0.98209	0.80557	D	AEFGBHCIJ	0.095821	0.19354	N	1.11527282582097	0.98407	18.19328	0.975376426345719	0.98091	17.40822	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.68	5.68	0.88021	5.300000	0.65515	7.558000	0.60417	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.266	0.86973	197	0.92378	.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	277.33	33	chr7	100101724	.	C	T	277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=691;ExcessHet=0;FS=2.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=2.05;SOR=0.368	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr7	100106492	100106492	C	T	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon14:c.C1136T:p.S379F,AP4M1:NM_004722:exon14:c.C1115T:p.S372F	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0173944578285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.973	0.72923	D	0.000010	0.62929	D	0.113360	0.999946	0.51968	D	2.315	0.66250	M	2.02	0.21119	T	-3.36	0.69477	D	0.566	0.58968	-0.9731	0.36540	T	0.126	0.43112	T	10	0.4808403	0.60421	T	0.017394	0.39069	T	0.192	0.47115	0.37	0.38013	0.593771126905	0.59055	0.535071671211154	0.53432	0.520053127806	0.49812	0.626525640488	0.56652	T	0.274411	0.64690	T	-0.0882671	0.38363	T	-0.364566	0.37522	T	0.961416721343994	0.66076	D	0.913109	0.69007	D	0.89983505	0.91368	0.7460952	0.84992	0.89983505	0.91369	0.7460952	0.84993	-8.958	0.67426	D	0.6535910691966417	0.72609	0.369	0.62266	A	.;.;.;.;.;.	.;.;.;.;.;.	5.083409	0.84853	28.4	0.99829413319813753	0.91112	0.95537	0.65116	D	AEFDBI	0.806878	0.73107	D	0.717457988520797	0.80776	7.369951	0.68853556255678	0.81508	7.543082	0.999999999999257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	5.483000	0.66561	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.414	0.74672	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.33	157	chr7	100106492	.	C	T	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.854;DP=1058;ExcessHet=0;FS=213.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.941;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	18	0	1	0
chr7	100118443	100118443	A	G	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.T32C:p.L11P	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.352e-06	0	0	.	0	0	.	.	.	.	.	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	34.96	1	chr7	100118443	.	A	G	34.96	.	AC=2;AF=0.067;AN=30;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=0.1898;MLEAC=2;MLEAF=0.067;MQ=60;QD=17.48;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	14	1	0	4
chr7	100118468	100118468	T	C	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.A7G:p.T3A	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	35.75	1	chr7	100118468	.	T	C	35.75	.	AC=2;AF=0.077;AN=26;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.3162;MLEAC=2;MLEAF=0.077;MQ=60;QD=17.88;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	12	1	0	6
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T	.	425	1087	10	0	0	10	0.00457875	.	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1599.33	35	chr7	100173918	.	A	G	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.35;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.657;SOR=0.71	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1349	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,46:106:99:.:.:1402,0,1585:.	1	0	18	0
chr7	100180567	100180567	C	T	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon2:c.C11T:p.P4L,STAG3:NM_001282717:exon2:c.C11T:p.P4L,STAG3:NM_001282718:exon2:c.C11T:p.P4L,STAG3:NM_001375438:exon2:c.C11T:p.P4L,STAG3:NM_012447:exon2:c.C11T:p.P4L	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3186416	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0122415012706	0.0007	0.000199681	0.0001	0.0010	0	0.0002	0	4.5e-05	0	0	0.0001035	16	154602	rs140021945	4.4e-05	4.857e-05	4.655e-05	4.142e-05	0.0012	3.526e-05	3.209e-05	0.0009	0.0008	0.0012	8.946e-05	0	0	0	0	1.086e-05	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.943	0.53072	P	0.276	0.40142	B	0.611521	0.10862	N	0.772552	0.999972	0.18612	N	1.79	0.46772	L	1.87	0.34452	T	-1.56	0.92605	N	0.213	0.29889	-0.9432	0.42105	T	0.102	0.37768	T	10	0.027985752	0.00936	T	0.012242	0.30635	T	0.115	0.32236	.	.	0.404453528171	0.40057	0.3122344651920992	0.31136	0.46583218784	0.46004	0.35994669795	0.19378	T	0.160089	0.50379	T	-0.427215	0.01541	T	-0.426974	0.30279	T	0.0691328216587927	0.08529	T	0.669833	0.27843	T	0.15994355	0.35901	0.20115946	0.44083	0.15994355	0.35900	0.20115946	0.44082	-2.719	0.07865	T	.	.	0.091	0.42007	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.098169	0.41745	21.4	0.97189959453006003	0.32762	0.15622	0.19001	N	AEFBCI	0.118563	0.23179	N	-0.164319893925543	0.34628	1.979	-0.293255476983981	0.28319	1.578192	0.999988079586775	0.51787	0.495158	0.18159	0	0.616935	0.53198	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	4.56	4.56	0.55644	1.758000	0.38039	2.805000	0.34874	0.465000	0.21702	0.035000	0.20724	0.895000	0.27885	0.046000	0.14843	0.0:1.0:0.0:0.0	13.042	0.58314	281	0.88893	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1718.33	36	chr7	100180567	.	C	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.534;DP=784;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.625;SOR=0.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	18	0	1	0
chr7	100182145	100182145	C	A	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon3:c.C172A:p.R58S,STAG3:NM_001282717:exon3:c.C172A:p.R58S,STAG3:NM_001282718:exon3:c.C172A:p.R58S,STAG3:NM_001375438:exon3:c.C172A:p.R58S,STAG3:NM_012447:exon3:c.C172A:p.R58S	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2337196	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0155703864952	.	.	3.299e-05	0	0	0	0	6e-05	0	0	3.23e-05	5	154602	rs200232685	5.474e-05	5.541e-05	6.808e-05	4.126e-05	6.708e-05	4.478e-05	4.148e-05	5.074e-05	4.653e-05	0	6.708e-05	3.827e-05	0	0	0	6.295e-05	1.657e-05	5.797e-05	2.634e-05	2.627e-05	1.287e-05	4.047e-05	5.884e-05	8.16e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.003	0.68238	D	0.029	0.92824	D	0.001	0.07471	B	0.006	0.12133	B	0.091610	0.20317	N	0.370961	1	0.08975	N	2.27	0.64531	M	1.88	0.27822	T	-1.07	0.83292	N	0.27	0.46649	-0.9610	0.38993	T	0.075	0.30242	T	10	0.12378469	0.23502	T	0.01557	0.36375	T	0.102	0.29158	0.222	0.14518	0.499535901811	0.49588	0.2756263458948395	0.27475	0.52393785997	0.50099	0.201897025108	0.00514	T	0.060095	0.40061	T	-0.285392	0.10104	T	-0.471876	0.25314	T	0.0947954803705215	0.11774	T	0.762324	0.38756	T	0.121911734	0.28657	0.09539669	0.22623	0.121911734	0.28657	0.09539669	0.22622	-3.038	0.10596	T	.	.	0.218	0.63329	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.052868	0.14339	10.92	0.96174661909403381	0.28939	0.05646	0.11558	N	AEFDBI	0.122012	0.23696	N	-0.435859252129776	0.24223	1.306374	-0.488076874729883	0.22480	1.221267	0.991180587039367	0.32402	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	0.158000	0.16239	-0.225000	0.10728	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.067	0.58452	278	0.89047	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1688.33	38	chr7	100182145	.	C	A	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.274;SOR=0.732	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.02632	1132.33	39	chr7	100220255	.	C	T	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=843;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.51;SOR=0.494	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1451	18	0	1	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L,PILRA:NM_013439:exon7:c.C836T:p.S279L	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008808	0.000000	0.001359	0.003497	0.000000	0.008621	0.030488	0.015152	0.02632	1405.33	35	chr7	100399831	.	C	T	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.992;DP=752;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.024;SOR=0.859	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1241	18	0	1	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P,ZCWPW1:NM_017984:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.39	63	chr7	100416308	.	C	G	40.39	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.572;DP=1385;ExcessHet=0.3672;FS=206.453;InbreedingCoeff=-0.1037;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.813;SOR=10.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1448	15	0	3	1
chr7	100419158	100419158	T	C	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon5:c.A314G:p.E105G,ZCWPW1:NM_017984:exon5:c.A314G:p.E105G	.	437	1034	49	2	0	53	0.0249882	.	.	.	2840634	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.186	.	0.0037	0.00519169	0.0060	0.0004	0.0081	0.0001	0.0009	0.0060	0.0089	0.0133	0.0056015	866	154602	rs141450215	0.0047	0.0047	0.0042	0.0052	0.0340	0.0046	0.0045	0.0301	0.0286	0.0006	0.0067	0.0242	0.0001	0.0008	0.0340	0.0037	0.0066	0.0128	0.0041	0.0042	0.0042	0.0041	0.0157	0.0039	0.0038	0.0129	0.0118	0.0006	0.0055	0.0061	0.0196	0	0.0010	0.0306	0.0048	0.0085	0.0157	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.14	0.59869	M	-0.04	0.63403	T	-2.58	0.55662	D	0.656	0.66615	-0.7591	0.57455	T	0.190	0.54183	T	9	0.007864803	0.00179	T	.	.	.	0.186	0.46104	.	.	0.250579442822	0.24687	0.24123072230755827	0.24037	0.699819188154	0.61061	0.477081626654	0.35655	T	0.026106	0.19387	T	-0.217994	0.18268	T	-0.074878	0.65276	T	0.0250965068058876	0.01285	T	0.768523	0.39806	T	0.43225837	0.62900	0.48678872	0.70298	0.43225837	0.62900	0.48678872	0.70299	-9.733	0.73473	D	.	.	0.418	0.66060	A	.;.	.;.	5.010167	0.83197	28.0	0.99919301830838392	0.98654	0.73008	0.35719	D	ALL	0.709088	0.66329	D	0.317644890854957	0.57054	3.871421	0.397648003033706	0.61420	4.341826	0.999998930392949	0.74766	0.533608	0.22052	0	0.68618	0.66647	0	0.685742	0.62368	0	0.620976	0.48614	0	.	.	5.59	5.59	0.84677	3.787000	0.55144	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.446	0.54989	453	0.79178	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.000000	0.036685	0.023392	0.050000	0.034483	0.030488	0.007576	0.05263	3137.81	34	chr7	100419158	.	T	C	3137.81	.	AC=2;AF=0.053;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.17;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	18	1	0	0
chr7	100419851	100419851	G	A	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon4:c.C61T:p.P21S,ZCWPW1:NM_017984:exon4:c.C61T:p.P21S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	.	0.0030	0.00319489	0.0009	0.0100	8.657e-05	0	0	0	0	0.0008	0.0008279	128	154602	rs191203557	0.0003	0.0003	0.0003	0.0002	0.0100	0.0003	0.0002	0.0091	0.0087	0.0100	0.0002	0	0	0	0.0002	2.72e-06	0.0005	0.0005	0.0028	0.0028	0.0028	0.0028	0.0100	0.0026	0.0025	0.0092	0.0089	0.0100	0	0.0002	0	0	0	0	2.94e-05	0.0019	0.0006	0.085	0.33923	T	0.0	0.92824	D	0.921	0.51088	P	0.352	0.42883	B	0.000042	0.53742	D	0.000000	1	0.81001	D	1.765	0.45800	L	0.53	0.55439	T	-2.17	0.49018	N	0.241	0.27197	-0.7868	0.55915	T	0.187	0.53707	T	9	0.0075009167	0.00171	T	.	.	.	0.153	0.40148	.	.	0.208000267992	0.20380	0.2163298000806597	0.21548	0.439204412305	0.43942	0.291314482689	0.09113	T	0.022413	0.17282	T	-0.372053	0.03492	T	-0.300382	0.44685	T	0.0566461492171399	0.06629	T	0.716728	0.32905	T	0.09463204	0.22252	0.13422118	0.32168	0.09463204	0.22252	0.13422118	0.32167	-2.666	0.07022	T	.	.	0.23	0.57066	B	.;.	.;.	2.872072	0.37979	20.6	0.99600152658781738	0.74160	0.47617	0.28023	N	AEFBHCI	.	.	.	0.291724145357606	0.55727	3.736961	0.316250798876188	0.56495	3.812824	0.999732486589979	0.42341	0.538715	0.22204	0	0.633563	0.54681	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.94	4.06	0.46572	2.005000	0.40484	7.503000	0.59513	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.929000	0.46594	0.1016:0.0:0.8984:0.0	8.510	0.32372	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1300.33	38	chr7	100419851	.	G	A	1300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=748;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.621;SOR=0.449	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1287	18	0	1	0
chr7	100431162	100431162	G	A	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.G1144A:p.G382S	.	280	1241	1	0	0	1	0.000402739	.	.	.	2345747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0103435699168	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs146630304	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	0	2.236e-05	0.0003	7.557e-05	0	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0001	0.0002	0.0004	9.746e-05	8.26e-05	0.0002	0.0001	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	0.192	0.20988	T	0.36	0.16964	T	0.079	0.24468	B	0.07	0.27859	B	0.002699	0.36102	N	0.275216	0.653019	0.81001	D	0.895	0.22405	L	.	.	.	0.06	0.06253	N	0.208	0.23125	-0.8893	0.48995	T	0.141	0.46128	T	9	0.028870493	0.01016	T	0.010344	0.26763	T	0.094	0.27141	.	.	0.239312915715	0.23560	0.30913477058682204	0.30826	1.48319628752	0.86751	0.551497280598	0.46069	T	0.017663	0.14371	T	-0.347772	0.04869	T	-0.366242	0.37329	T	0.0419062860445368	0.04037	T	0.790621	0.43132	T	0.12492731	0.29298	0.11807647	0.28504	0.12492731	0.29298	0.11807647	0.28503	-4.9	0.35735	T	.	.	0.085	0.10062	B	.	.	4.071532	0.60497	24.2	0.99676276403883701	0.78912	0.93603	0.58670	D	AEFDBHCI	0.494458	0.53024	N	-0.138631219786639	0.35721	2.055324	0.0378494814215495	0.41489	2.493374	0.999999960484983	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.83	4.83	0.61880	1.778000	0.38244	11.794000	0.96459	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	13.282	0.59652	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1848.33	38	chr7	100431162	.	G	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=766;ExcessHet=0;FS=3.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=1.13;SOR=0.918	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	18	0	1	0
chr7	100432932	100432932	T	C	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon2:c.T1685C:p.L562P,MEPCE:NM_001194990:exon3:c.T278C:p.L93P,MEPCE:NM_001194991:exon3:c.T278C:p.L93P,MEPCE:NM_001194992:exon3:c.T278C:p.L93P,MEPCE:NM_001363486:exon3:c.T278C:p.L93P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	.	0.00339457	0.0010	0	0	0	0	0	0.0011	0.0075	0.000925	143	154602	rs371718870	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	2.519e-05	0	0	7.194e-06	0.0007	0.0062	0.0002	0.0002	0.0003	0.0002	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.196	0.32141	T	0.329	0.27414	T	0.417	0.35244	B	0.052	0.25551	B	0.007318	0.31472	N	0.212716	1	0.81001	D	1.365	0.34158	L	0.96	0.49358	T	-3.11	0.63669	D	0.406	0.62696	-1.0558	0.12829	T	0.070	0.28577	T	10	0.009277761	0.00210	T	.	.	.	0.277	0.59375	0.554	0.67133	0.863339090656	0.86201	0.9594190336573171	0.95927	1.58306368673	0.88407	0.777312636375	0.78523	T	0.274826	0.64733	T	-0.105853	0.35454	T	0.0783412	0.75467	D	0.0632670630181079	0.07672	T	0.756624	0.37993	T	0.8330598	0.86117	0.6881847	0.81658	0.8330598	0.86118	0.6881847	0.81659	-10.268	0.75501	D	.	.	0.168	0.49363	B	.;.	.;.	4.036852	0.59739	24.1	0.99811498305335733	0.89531	0.94454	0.61218	D	AEFDBHCI	0.764409	0.70121	D	-0.11710368368928	0.36648	2.121171	0.0662080089775942	0.42863	2.600096	0.99999999989312	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.593000	0.45845	6.206000	0.54953	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.718	0.62189	466	0.78352	.;Bin3-type S-adenosyl-L-methionine binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1918.33	34	chr7	100432932	.	T	C	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=796;ExcessHet=0;FS=12.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.204;SOR=1.533	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1393	18	0	1	0
chr7	100487008	100487008	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon3:c.C256T:p.H86Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.137495214072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	6.84e-07	0	1.38e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.92824	D	0.99	0.63424	D	0.871	0.61869	P	0.000055	0.53742	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	0.53	0.55090	T	-5.19	0.84105	D	0.717	0.74280	-0.5481	0.66858	T	0.266	0.63738	T	10	0.6727496	0.70810	D	0.137495	0.81998	D	0.367	0.68670	0.432	0.48171	0.403974779092	0.40011	0.8165938100907696	0.81615	0.56137818192	0.52642	0.867431998253	0.92199	D	0.39501	0.75401	T	0.29108	0.82243	D	0.18034	0.82015	D	0.9932461977005	0.83967	D	0.89941	0.68490	D	0.7715931	0.82144	0.71664244	0.83274	0.7715931	0.82145	0.71664244	0.83275	-10.544	0.77100	D	.	.	0.887	0.85955	P	.;.	.;.	4.674266	0.74729	26.2	0.99770685555418881	0.85834	0.74340	0.36366	D	AEFDBI	0.383691	0.46510	N	0.649362635320583	0.76329	6.466096	0.636984557628187	0.77643	6.719378	0.999999991798786	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	5.55	4.67	0.58089	5.173000	0.64844	7.533000	0.59948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.913:0.0:0.087	11.433	0.49293	362	0.84826	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	33	chr7	100487008	.	C	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.922;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr7	100487035	100487035	G	A	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon3:c.G283A:p.G95R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.061102619389	.	.	9.673e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs745503115	6.195e-06	6.84e-06	5.473e-06	6.926e-06	5.417e-06	2.92e-06	2.11e-06	1.95e-06	1.28e-06	0	0	3.88e-05	0	0	0	5.417e-06	3.343e-05	0	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	9.413e-05	0	0	0	0	0.002	0.72154	D	0.095	0.47336	T	1.0	0.90584	D	0.998	0.88582	D	0.002406	0.36612	N	0.123897	0.958308	0.38068	D	1.935	0.51832	L	0.95	0.43279	T	-2.2	0.49519	N	0.639	0.65159	-0.8052	0.54837	T	0.178	0.52334	T	10	0.43126094	0.57505	T	0.061103	0.68222	D	0.193	0.47281	0.168	0.07302	0.223474106383	0.21959	0.1638896595312786	0.16308	0.337990986276	0.35776	0.836685657501	0.87589	D	0.071344	0.34184	T	0.171755	0.71285	D	0.00893784	0.70914	D	0.729941427707672	0.42207	D	0.826217	0.48957	T	0.26659507	0.49730	0.3873369	0.63604	0.26659507	0.49730	0.3873369	0.63604	-7.633	0.58541	D	.	.	0.280	0.58976	B	.;.	.;.	4.173413	0.62768	24.5	0.99920648181369953	0.98721	0.93858	0.59395	D	AEFDBI	0.481154	0.52257	N	0.522512944857669	0.68422	5.215227	0.504035530973643	0.68263	5.195756	0.999999835272347	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	3.722000	0.54675	6.402000	0.55579	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.816000	0.38450	0.0:0.0:1.0:0.0	13.193	0.59145	362	0.84826	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	626.33	33	chr7	100487035	.	G	A	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.98;DP=679;ExcessHet=0;FS=5.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.496;SOR=1.304	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr7	100488853	100488853	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon4:c.C1132T:p.R378W	.	416	1105	1	0	0	1	0.000452284	.	.	.	3362847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0502588982414	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0012	0.0001488	23	154602	rs139880279	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	0	2.404e-05	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.724e-05	0.0002	0.0002	2.414e-05	0	6.544e-05	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.965	0.73362	D	0.000556	0.43413	D	0.000000	0.731358	0.33722	D	1.5	0.37844	L	0.89	0.45636	T	-2.02	0.46503	N	0.448	0.49055	-0.6786	0.61437	T	0.158	0.49094	T	10	0.10060358	0.18331	T	0.050259	0.64164	D	0.086	0.25016	.	.	0.123314135267	0.11883	0.2529180615462233	0.25205	0.748255062631	0.63626	0.743867337704	0.73541	T	0.059508	0.31135	T	-0.347744	0.04870	T	-0.363836	0.37607	T	0.145935453735833	0.16775	T	0.907609	0.67324	D	0.26072678	0.49129	0.21833387	0.46532	0.26072678	0.49129	0.21833387	0.46531	-5.527	0.42120	T	.	.	0.172	0.42156	B	.;.	.;.	4.897285	0.80455	27.3	0.9990375190991263	0.97502	0.67701	0.33528	D	AEFDBCI	0.476764	0.52004	N	0.271761839937198	0.54723	3.637178	0.252453093318252	0.52788	3.451401	0.999994307871459	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.97	4.06	0.46572	3.354000	0.51970	2.840000	0.35074	0.524000	0.24156	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.1715:0.8285:0.0:0.0	12.244	0.53872	365	0.84644	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1076.33	39	chr7	100488853	.	C	T	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=823;ExcessHet=0;FS=4.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.018;SOR=0.805	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1118	18	0	1	0
chr7	100489034	100489034	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon4:c.C1313T:p.A438V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136611118993	.	.	0.0002	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs771263014	3.375e-05	4.173e-05	2.131e-05	4.646e-05	0.0005	2.6e-05	2.331e-05	0.0004	0.0003	0	0	0	2.747e-05	0	0	4.621e-06	5.175e-05	0.0005	1.972e-05	1.97e-05	0	4.037e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.149723	0.18008	N	0.408893	0.998812	0.21886	N	0.345	0.11182	N	1.53	0.30937	T	-0.16	0.09627	N	0.108	0.10769	-1.0008	0.29688	T	0.034	0.14596	T	10	0.012857795	0.00275	T	0.013661	0.33231	T	0.033	0.08068	0.21	0.12781	0.043077524339	0.03247	0.24035598619844892	0.23949	0.182126464766	0.20479	0.396817594767	0.24626	T	0.02557	0.19092	T	-0.567295	0.00230	T	-0.700938	0.05775	T	0.0197515813645471	0.00677	T	0.542646	0.18460	T	0.02276013	0.00962	0.034612782	0.02560	0.02276013	0.00961	0.034612782	0.02560	-4.804	0.34638	T	.	.	0.060	0.00904	B	.;.	.;.	-1.113188	0.00625	0.017	0.86436483683019782	0.16535	0.13871	0.18098	N	AEFDGBCI	0.057922	0.10829	N	-1.07034389626619	0.07195	0.3334811	-0.973560269981724	0.10382	0.5224916	0.999889519965015	0.44867	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	-0.128	0.12847	-1.521000	0.02343	-4.035000	0.02380	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.303000	0.24570	0.0:0.5308:0.0:0.4692	7.752	0.28070	365	0.84644	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003876	0.02632	1210.33	39	chr7	100489034	.	C	T	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=841;ExcessHet=0;FS=5.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.7;SOR=1.242	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1118	18	0	1	0
chr7	100562303	100562303	G	A	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon7:c.G922A:p.A308T	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0052	0.00259585	0.0063	0.0005	0.0025	0	0.0294	0.0073	0.0044	0.0024	0.0059378	918	154602	rs147498213	0.0072	0.0072	0.0074	0.0069	0.0074	0.0071	0.0070	0.0073	0.0072	0.0011	0.0031	0.0041	0	0.0261	0.0038	0.0074	0.0057	0.0026	0.0070	0.0070	0.0060	0.0079	0.0075	0.0066	0.0065	0.0070	0.0068	0.0016	0.0011	0.0054	0.0040	0	0.0342	0	0.0075	0.0062	0.0012	0.529	0.07048	T	0.384	0.15794	T	0.036	0.20732	B	0.005	0.11217	B	0.275701	0.15041	N	0.651840	1	0.81001	D	1.745	0.45235	L	1.82	0.25018	T	-0.66	0.19085	N	0.05	0.02179	-1.0525	0.13709	T	0.027	0.11618	T	10	0.002654612	0.00041	T	.	.	.	0.050	0.13987	.	.	0.0297737177859	0.01360	0.4199298073848164	0.41908	0.304500079718	0.32754	0.321576416492	0.13661	T	0.008227	0.07566	T	-0.573428	0.00211	T	-0.588505	0.13795	T	0.00125930116032515	0.00012	T	0.541246	0.18358	T	0.0203131	0.00586	0.03746761	0.03407	0.0203131	0.00586	0.03746761	0.03407	-4.475	0.30560	T	.	.	0.071	0.03736	B	.	.	0.874942	0.12478	9.011	0.87287483406138588	0.17120	0.44155	0.27256	N	AEFDBCI	0.057516	0.10720	N	-1.3036995822345	0.03633	0.162622	-1.21166962651975	0.05722	0.2734266	0.999674898766267	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.8	1.06	0.19341	0.386000	0.20429	3.350000	0.37777	-3.602000	0.00072	0.536000	0.27236	1.000000	0.68203	0.001000	0.02609	0.2714:0.0:0.7286:0.0	8.952	0.34953	.	.	.	.	.	.	.	chr7:100159926	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	1353.33	33	chr7	100562303	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=739;ExcessHet=0;FS=6.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.481;SOR=0.326	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	100607979	100607979	G	A	exonic	PCOLCE	.	nonsynonymous SNV	PCOLCE:NM_002593:exon9:c.G1226A:p.G409D	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0095	0.0107827	0.0028	0.0314	0.0009	0	0	1.5e-05	0.0022	0.0001	0.002749	425	154602	rs35142716	0.0010	0.0010	0.0011	0.0008	0.0363	0.0009	0.0009	0.0346	0.0339	0.0363	0.0015	0	0	0	0.0005	1.169e-05	0.0020	0.0001	0.0099	0.0099	0.0100	0.0098	0.0344	0.0095	0.0093	0.0329	0.0323	0.0344	0	0.0038	0	0	0	0.0034	4.41e-05	0.0062	0.0002	0.023	0.48186	D	0.024	0.56640	D	0.768	0.43819	P	0.548	0.49136	P	0.085985	0.20611	N	0.524166	0.989148	0.40895	D	1.79	0.46772	L	1.96	0.22270	T	-1.51	0.36787	N	0.142	0.14196	-1.1497	0.01034	T	0.016	0.06521	T	10	0.00378415	0.00071	T	.	.	.	0.093	0.26882	.	.	0.102598925029	0.09809	0.5138680927142056	0.51308	0.445717174749	0.44459	0.392895489931	0.24077	T	0.103416	0.41205	T	-0.53203	0.00374	T	-0.511933	0.21116	T	0.0187412111330693	0.00586	T	0.59644	0.22167	T	0.105177574	0.24866	0.17324157	0.39637	0.105177574	0.24865	0.17324157	0.39636	-3.533	0.16897	T	.	.	0.219	0.44986	B	.	.	2.784484	0.36587	20.3	0.99774652055633073	0.86174	0.77695	0.38231	D	AEFBI	0.637233	0.61609	D	0.14047457694591	0.48361	3.049367	0.161740776979056	0.47768	3.002052	0.997782888574112	0.36027	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.04	3.05	0.34272	1.943000	0.39880	7.425000	0.58746	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.0:0.6687:0.3313	11.207	0.48006	693	0.58582	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type|Procollagen C-endopeptidase enhancer, NTR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1565.33	34	chr7	100607979	.	G	A	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=786;ExcessHet=0;FS=6.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.585;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	18	0	1	0
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R,MOSPD3:NM_023948:exon3:c.G436C:p.G146R,MOSPD3:NM_001040097:exon4:c.G436C:p.G146R,MOSPD3:NM_001040098:exon4:c.G436C:p.G146R,MOSPD3:NM_001363415:exon4:c.G436C:p.G146R,MOSPD3:NM_001363416:exon4:c.G436C:p.G146R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	708.33	36	chr7	100613631	.	G	C	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=730;ExcessHet=0;FS=17.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-1.887;SOR=2.477	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1095	18	0	1	0
chr7	100734191	100734191	T	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon2:c.T23C:p.L8P,ZAN:NM_173059:exon2:c.T23C:p.L8P	.	453	1061	7	1	0	9	0.00422337	.	.	.	2353381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0334709470433	0.0003	.	0.0003	0	0	0	0	0.0005	0.0055	0	7.76e-05	12	154602	rs377089635	8.121e-05	8.564e-05	8.999e-05	7.221e-05	0.0018	6.857e-05	6.344e-05	0.0010	0.0008	0	0.0001	0	0	0	0.0018	6.336e-05	0.0004	7.742e-05	7.096e-05	8.941e-05	9.691e-05	4.367e-05	0.0001	3.781e-05	2.909e-05	7.393e-05	5.541e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.974	0.73157	D	0.008620	0.30756	N	0.000000	0.949226	0.81001	D	0.805	0.20218	L	2.19	0.18724	T	-2.54	0.55025	D	0.493	0.59732	-1.1065	0.03388	T	0.071	0.28936	T	10	0.19088286	0.34751	T	0.033471	0.55002	D	0.256	0.56694	.	.	0.139678290688	0.13603	0.572241483462103	0.57152	0.520573719008	0.49853	0.516910076141	0.41192	T	0.038082	0.24714	T	-0.0722783	0.40963	T	-0.0771708	0.65111	T	0.403770327568054	0.29084	T	0.517348	0.16736	T	0.51957893	0.68235	0.5424738	0.73555	0.51957893	0.68236	0.5424738	0.73556	-7.158	0.55179	T	.	.	0.365	0.57511	A	.;.;.;.	.;.;.;.	3.398919	0.47096	22.4	0.99816145851160498	0.89973	0.79510	0.39413	D	AEFBI	0.180764	0.30808	N	0.181785157822672	0.50324	3.223545	0.110239427017134	0.45071	2.776916	0.00623508965529941	0.11164	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.7	2.51	0.29435	1.494000	0.35225	5.195000	0.47912	0.661000	0.55757	0.981000	0.35396	1.000000	0.68203	0.804000	0.37906	0.0:0.0:0.229:0.771	7.166	0.24868	702	0.57624	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004792	0.000000	0.004310	0.003030	0.000000	0.009434	0.009615	0.007937	0.02632	1133.33	33	chr7	100734191	.	T	C	1133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=714;ExcessHet=0;FS=4.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.497;SOR=1.151	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R,ZAN:NM_173059:exon13:c.C1548G:p.S516R	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.005435	0.017544	0.000000	0.008621	0.015337	0.049242	0.07895	2389.79	34	chr7	100751208	.	C	G	2389.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.847;DP=777;ExcessHet=0.3672;FS=1.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.637;SOR=0.576	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1369	16	0	3	0
chr7	100751907	100751907	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon14:c.C1802T:p.S601F,ZAN:NM_173059:exon14:c.C1802T:p.S601F	.	416	1104	2	0	0	2	0.000904977	.	.	.	4099041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00971777960646	.	.	5.81e-05	0	0	0	0	1.503e-05	0	0.0004	4.53e-05	7	154602	rs755964658	3.011e-05	3.01e-05	2.723e-05	3.302e-05	0.0005	2.282e-05	2.033e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.529e-05	4.971e-05	0.0002	6.583e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	0.234	0.30717	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.35	0.11930	N	-0.06	0.63568	T	-1.17	0.29933	N	0.131	0.12627	-0.9862	0.33542	T	0.124	0.42715	T	9	0.051299334	0.04991	T	0.009718	0.25381	T	0.081	0.23632	0.278	0.23164	0.254761474806	0.25079	0.10251868639864947	0.10181	0.124631622322	0.14042	0.127941697836	0.00001	T	0.026752	0.19734	T	-0.227724	0.16951	T	-0.258909	0.48934	T	0.0278631171153285	0.01668	T	0.928407	0.74605	D	0.042856272	0.06577	0.069435835	0.14628	0.042856272	0.06576	0.069435835	0.14628	-7.37	0.56693	T	.	.	0.139	0.30291	B	.;.;.;.	.;.;.;.	0.885919	0.12595	9.120	0.89219915979306241	0.18611	0.03126	0.08073	N	AEFBI	0.070710	0.14048	N	-1.1709822010661	0.05443	0.2481748	-1.26542606884135	0.04906	0.2325606	1.74807150889536E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	2.68	0.774	0.17665	1.057000	0.30102	-5.841000	0.01578	-1.276000	0.01274	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2131:0.6579:0.0:0.1289	4.782	0.12576	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4477.33	33	chr7	100751907	.	C	T	4477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1007;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.94;QD=12.2;ReadPosRankSum=0.386;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	100752308	100752308	-	CAGAAAAACCCACCACCCCCA	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT,ZAN:NM_173059:exon14:c.2203_2204insCAGAAAAACCCACCACCCCCA:p.T746_I747insTPTEKPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.408e-06	0	0	0	0	1.525e-05	0	0	3.84e-05	1	26028	rs758781764	1.649e-05	2.974e-05	2.049e-05	1.235e-05	8.316e-05	1.055e-05	8.5e-06	3.228e-05	2.062e-05	0	0	0	0	8.361e-05	0	1.085e-05	2.403e-05	8.316e-05	3.338e-05	2.61e-05	6.81e-05	0	7.165e-05	5.54e-06	2.07e-06	1.186e-05	4.43e-06	0	0	0	0	0	0	0	7.165e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	707.79	33	chr7	100752308	.	C	CCAGAAAAACCCACCACCCCCA	707.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.657;DP=1388;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-4.161;QD=2.34;ReadPosRankSum=-0.025;SOR=0.663	GT:AD:DP:GQ:PL	0/1:135,25:161:99:284,0,4453	17	0	2	0
chr7	100752324	100752324	-	CCCCACAGAAAAACCCACCAT	exonic	ZAN	.	nonframeshift insertion	ZAN:NM_003386:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI,ZAN:NM_173059:exon14:c.2219_2220insCCCCACAGAAAAACCCACCAT:p.I754_S755insPTEKPTI	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.056e-05	0	0	0	0.0003	4.587e-05	0	6.089e-05	3.84e-05	1	26028	rs781315033	9.528e-05	0.0001	8.519e-05	0.0001	0.0002	8.056e-05	7.487e-05	0.0001	0.0001	0	0	0.0002	0	0.0007	0	6.921e-05	0.0001	0.0002	9.854e-05	0.0002	0.0001	8.461e-05	0.0002	4.584e-05	3.223e-05	9.45e-05	6.658e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1579.79	33	chr7	100752324	.	C	CCCCCACAGAAAAACCCACCAT	1579.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.167;DP=1415;ExcessHet=0.119;FS=14.38;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-5.024;QD=5.06;ReadPosRankSum=3.99;SOR=1.617	GT:AD:DP:GQ:PL	0/1:112,37:149:99:1163,0,3802	17	0	2	0
chr7	100752560	100752622	ATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	-	exonic	ZAN	.	nonframeshift deletion	ZAN:NM_003386:exon14:c.2455_2517del:p.M819_S839del,ZAN:NM_173059:exon14:c.2455_2517del:p.M819_S839del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1098.79	33	chr7	100752559	.	CATGGAAAAACCCACTCTCCCCACTGAAGAAACCACCACCTCTGTTGAAGAGACTACCATCTCT	C	1098.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.5;DP=2005;ExcessHet=0.119;FS=0.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.82;MQRankSum=-6.745;QD=0.8;ReadPosRankSum=-1.775;SOR=0.975	GT:AD:DP:GQ:PL	0/1:561,56:617:99:624,0,23245	17	0	2	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,69:122:99:0|1:100773849_CCAT_C:2729,0,2018:100773849	3	9	7	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	53133.8	110	chr7	100773854	.	G	*	53133.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.49;DP=2033;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=27;ReadPosRankSum=0.396;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:51,0:120:99:0|1:100773849_CCAT_C:2735,2889,5030:100773849	15	0	4	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.02632	1105.33	37	chr7	100779666	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=811;ExcessHet=0;FS=2.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.723;SOR=1.005	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:101,54:155:99:1959,0,4067	2	9	8	0
chr7	100792513	100792513	-	CTGG	exonic	ZAN	.	frameshift insertion	ZAN:NM_173059:exon42:c.7821_7822insCTGG:p.R2612Lfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001294	20	154602	rs772686508	4.313e-05	4.309e-05	1.907e-05	6.744e-05	0.0006	3.445e-05	3.131e-05	0.0005	0.0005	2.988e-05	0	0	0	0	0	8.997e-07	9.947e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1443.29	44	chr7	100792513	.	C	CCTGG	1443.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=774;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=1.26;SOR=1.094	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:468,187:717:99:0|1:100952942_T_G:6443,0,19088:100952942	5	0	14	0
chr7	100952958	100952958	-	ACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1179_1180insACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC:p.E393_I394insTTSHSTPSFTSSAIYSTVNISTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.437e-05	0.0002	5.005e-05	1.772e-05	8.556e-05	1.103e-05	6.41e-06	1.522e-05	8.22e-06	0	0	8.556e-05	0	0	0	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6651.29	950	chr7	100952958	.	G	GACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	6651.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=12348;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.72;MQRankSum=-10.93;QD=9;ReadPosRankSum=-0.789;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:688,0:688:99:.:.:0,120,1800:.	18	0	1	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1510.83	945	chr7	100953071	.	C	T	1510.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.219;DP=13533;ExcessHet=0.119;FS=4.843;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-3.538;QD=1.2;ReadPosRankSum=-1.359;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:802,0:802:99:.:.:0,120,1800:.	17	0	2	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:212,125:611:99:.:.:8632,4464,15145:.	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:424,115:604:99:.:.:3553,0,17458:.	2	0	17	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:430,0:465:99:0|1:100953222_C_T:173,1447,19244:100953222	14	0	5	0
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	313.29	815	chr7	100953364	.	TTC	T	313.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=11599;ExcessHet=0;FS=19.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.37;MQRankSum=-10.29;QD=0.53;ReadPosRankSum=-2.232;SOR=4.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:630,0:630:99:.:.:0,120,1800:.	18	0	1	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	98027.7	868	chr7	100953371	.	C	*	98027.7	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=12379;ExcessHet=38.2876;FS=7.032;InbreedingCoeff=-0.9;MLEAC=3;MLEAF=0.079;MQ=57.43;MQRankSum=-13.36;QD=9.48;ReadPosRankSum=0.156;SOR=1.192	GT:AD:DP:GQ:PL	0/1:198,196:657:99:7581,0,7705	16	0	3	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	8426.48	1172	chr7	100953494	.	C	*	8426.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.742;DP=16599;ExcessHet=6.9875;FS=0.87;InbreedingCoeff=-0.3626;MLEAC=2;MLEAF=0.053;MQ=57.3;MQRankSum=-6.987;QD=0.93;ReadPosRankSum=-2.301;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:896,0:896:99:.:.:0,120,1800:.	17	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	30931.2	1245	chr7	100953548	.	C	T	30931.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=17651;ExcessHet=13.8672;FS=1.743;InbreedingCoeff=-0.5209;MLEAC=2;MLEAF=0.053;MQ=55.64;MQRankSum=-11.53;QD=2.5;ReadPosRankSum=5.2;SOR=0.966	GT:AD:DP:GQ:PL	0/0:979,0:979:99:0,120,1800	17	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3903.83	1158	chr7	100953580	.	T	G	3903.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.191;DP=17639;ExcessHet=0.119;FS=3.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.75;MQRankSum=1.28;QD=1.95;ReadPosRankSum=4.65;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1027,0:1027:99:.:.:0,120,1800:.	17	0	2	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	9134.83	488	chr7	100954094	.	A	G	9134.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-7.567;DP=6716;ExcessHet=0.119;FS=10.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.39;MQRankSum=18.64;QD=13.72;ReadPosRankSum=-1.064;SOR=0.737	GT:AD:DP:GQ:PL	0/0:396,0:396:99:0,120,1800	17	0	2	0
chr7	100954158	100954158	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2379G:p.I793M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293765468	2.331e-06	6.36e-06	0	4.289e-06	.	0	0	.	.	0	0	0	0	3.334e-05	0	0	0	0	0.0005	0.0039	0.0005	0.0005	0.0017	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0011	0.0003	0	0.0004	0	0.0017	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.08646	.	.	.	.	.	.	.	0.044038594	0.03318	T	.	.	.	.	.	.	.	.	.	0.018937706257390052	0.01847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244176	0.03564	T	.	.	.	.	.	.	.	.	-5.36	0.40533	T	.	.	0.125	0.26263	B	.;.	.;.	0.590388	0.09587	6.363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.012000	0.12637	-7.416000	0.01161	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	269.33	502	chr7	100954158	.	C	G	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=7366;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55;MQRankSum=-10.46;QD=0.57;ReadPosRankSum=-0.739;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:425,0:425:99:.:.:0,120,1800:.	18	0	1	0
chr7	100954168	100954168	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2389T:p.P797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405297788	4.764e-06	3.975e-05	0	8.796e-06	3.85e-06	7.9e-07	3e-07	.	.	0	0	0	0	3.373e-05	0	3.85e-06	0	0	0.0008	0.0049	0.0006	0.0009	0.0016	0.0006	0.0005	0.0007	0.0005	0.0005	0.0036	0.0016	0.0019	0.0014	0.0003	0	0.0006	0	0.0014	.	.	.	0.251	0.23707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.02861	.	.	.	.	.	.	.	0.049508095	0.04550	T	.	.	.	.	.	.	.	.	.	0.059614147182007055	0.05901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39586	0.09952	T	.	.	.	.	.	.	.	.	-3.669	0.18861	T	.	.	0.158	0.34862	B	.;.	.;.	-0.053016	0.03930	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.780000	0.01872	-4.039000	0.02378	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	110.33	502	chr7	100954168	.	C	T	110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.62;DP=7358;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.3;MQRankSum=-10.3;QD=0.24;ReadPosRankSum=-1.079;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:425,0:425:99:.:.:0,120,1800:.	18	0	1	0
chr7	100954855	100954855	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3076G:p.T1026A	.	807	709	4	2	0	8	0.0056101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	5.884e-05	7.191e-06	0	.	0	0	.	.	0	0	0	0	4.431e-05	0	0	0	0	2.25e-05	0.0015	0	4.61e-05	0.0002	5.98e-06	2.66e-06	.	.	0	0	7.67e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	0.088	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01825	.	.	.	.	.	.	.	0.08561024	0.14470	T	.	.	.	.	.	.	.	.	.	0.0396548642750254	0.03911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-7.48	0.57470	T	.	.	0.126	0.26669	B	.;.	.;.	-0.093702	0.03679	0.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.087000	0.11181	-2.695000	0.03458	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	256.14	604	chr7	100954855	.	A	G	256.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.29;DP=8520;ExcessHet=0;FS=43.414;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.55;MQRankSum=-15.55;QD=0.59;ReadPosRankSum=0.228;SOR=4.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:516,0:516:99:.:.:0,120,1800:.	16	0	1	2
chr7	100954858	100954858	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3079G:p.T1027A	.	1002	512	6	2	0	10	0.00967118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253536811	2.526e-05	0.0001	2.204e-05	2.837e-05	0.0001	1.149e-05	7.74e-06	4.5e-06	2.25e-06	0.0001	0	0	0	4.49e-05	0	1.693e-05	5.48e-05	0.0001	3.283e-05	0.0029	2.153e-05	4.451e-05	0.0003	8.72e-06	4.42e-06	.	.	0	0	0.0001	0	0.0003	0	0	2.354e-05	0	0	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.02559	.	.	.	.	.	.	.	0.08334914	0.13855	T	.	.	.	.	.	.	.	.	.	0.04319746289071145	0.04264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183182	0.01877	T	.	.	.	.	.	.	.	.	-7.357	0.56600	T	.	.	0.113	0.22208	B	.;.	.;.	-0.076276	0.03784	0.796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.178000	0.31590	-5.132000	0.01836	-0.764000	0.03494	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	251.12	609	chr7	100954858	.	A	G	251.12	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.41;DP=8588;ExcessHet=0;FS=43.414;InbreedingCoeff=-0.2354;MLEAC=2;MLEAF=0.143;MQ=58.56;MQRankSum=-15.62;QD=0.57;ReadPosRankSum=0.605;SOR=4.862	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:517,0:517:0:.:.:0,0,11676:.	6	0	1	12
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1057.89	678	chr7	100954873	.	G	A	1057.89	.	AC=1;AF=0.056;AN=18;BaseQRankSum=5.04;DP=8714;ExcessHet=0;FS=9.25;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.111;MQ=58.39;MQRankSum=-11.85;QD=2.34;ReadPosRankSum=0.013;SOR=1.826	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:569,0:569:0:.:.:0,0,12768:.	8	0	1	10
chr7	100954883	100954883	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3104T:p.T1035I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291895937	1.811e-05	0.0004	2.487e-05	1.174e-05	0.0001	7.51e-06	5.28e-06	6.5e-06	3.04e-06	0.0001	9.083e-05	0	0	0	0	1.926e-05	0	0	1.339e-05	0.0013	1.309e-05	1.371e-05	0.0002	2.23e-06	8.3e-07	.	.	2.488e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.08443788	0.14151	T	.	.	.	.	.	.	.	.	.	0.037606147477919044	0.03706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321068	0.06505	T	.	.	.	.	.	.	.	.	-7.484	0.57498	T	.	.	0.175	0.38281	B	.;.	.;.	0.733817	0.11029	7.687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171000	0.16497	-7.960000	0.01054	-1.062000	0.01615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	179.33	703	chr7	100954883	.	C	T	179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.657;DP=8858;ExcessHet=0;FS=18.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=-19.63;QD=0.43;ReadPosRankSum=-1.393;SOR=3.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:570,0:570:99:.:.:0,118,1800:.	18	0	1	0
chr7	100954967	100954967	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3188T:p.T1063I	.	601	593	305	21	2	349	0.226354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.329e-05	5.7e-05	0	2.54e-05	0.0001	4.89e-06	2.83e-06	2.684e-05	1.443e-05	0	0	0	0	0	0	4.336e-06	4.419e-05	0.0001	7.467e-06	0.0002	0	1.534e-05	1.658e-05	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	0	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.08560631	0.14467	T	.	.	.	.	.	.	.	.	.	0.04646275418540985	0.04590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305069	0.05837	T	.	.	.	.	.	.	.	.	-3.05	0.10730	T	.	.	0.190	0.40905	B	.;.	.;.	0.694578	0.10635	7.333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854000	0.27445	-9.164000	0.00858	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	11284.2	840	chr7	100954967	.	C	T	11284.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=11142;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=57.23;MQRankSum=-5.66;QD=2.15;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:558,0:618:99:1|0:100954917_T_C:820,2499,25930:100954917	18	0	1	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	491.09	467	chr7	100955170	.	G	*	491.09	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.24;DP=6383;ExcessHet=2.9153;FS=17.057;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.111;MQ=58.69;MQRankSum=-16.33;QD=0.19;ReadPosRankSum=-1.061;SOR=2.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,37:379:99:0|1:100955170_G_T:533,0,14123:100955170	14	0	4	1
chr7	100955172	100955175	CACG	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	241.19	477	chr7	100955172	.	CACG	*	241.19	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.12;DP=6413;ExcessHet=2.0135;FS=24.257;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.118;MQ=58.75;MQRankSum=-15.03;QD=0.1;ReadPosRankSum=-1.203;SOR=3.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,33:378:99:0|1:100955170_G_T:356,0,14261:100955170	13	0	4	2
chr7	100955174	100955177	CGAT	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1686.78	477	chr7	100955174	.	CGAT	*	1686.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.17;DP=6403;ExcessHet=2.0135;FS=13.466;InbreedingCoeff=-0.1878;MLEAC=5;MLEAF=0.132;MQ=57.98;MQRankSum=-8.168;QD=0.73;ReadPosRankSum=-2.426;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,33:378:99:0|1:100955170_G_T:356,0,14261:100955170	14	0	5	0
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	671.78	473	chr7	100955175	.	G	*	671.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.35;DP=6379;ExcessHet=2.0135;FS=14.502;InbreedingCoeff=-0.2066;MLEAC=3;MLEAF=0.083;MQ=58.56;MQRankSum=-15.13;QD=0.29;ReadPosRankSum=-1.114;SOR=2.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:336,3:372:99:0|1:100955044_A_G:374,1260,15359:100955044	15	0	3	1
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1979.47	467	chr7	100955762	.	C	A	1979.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=5.71;DP=10134;ExcessHet=0.119;FS=8.212;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=59.21;MQRankSum=-18.51;QD=1.79;ReadPosRankSum=-2.775;SOR=1.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:619,0:619:99:.:.:0,120,1800:.	7	0	2	10
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3321.95	467	chr7	100955779	.	C	G	3321.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.098;DP=11451;ExcessHet=0.119;FS=12.89;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-20.51;QD=2.81;ReadPosRankSum=1.51;SOR=1.937	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:734,0:734:0:.:.:0,0,5253:.	4	0	2	13
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3705.95	467	chr7	100955783	.	C	A	3705.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.64;DP=11803;ExcessHet=0.1259;FS=10.494;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.84;MQRankSum=-21.05;QD=3.08;ReadPosRankSum=2.26;SOR=1.832	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:767,0:767:0:.:.:0,0,3245:.	4	0	2	13
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	27427.3	1071	chr7	100955917	.	G	*	27427.3	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.257;DP=15365;ExcessHet=11.1788;FS=3.902;InbreedingCoeff=-0.52;MLEAC=2;MLEAF=0.059;MQ=56.59;MQRankSum=-14.74;QD=2.67;ReadPosRankSum=1.55;SOR=1.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:563,0:637:99:0|1:100955893_T_A:1413,3107,26748:100955893	15	0	2	2
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	21749.6	1049	chr7	100955959	.	A	G	21749.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.02;DP=14333;ExcessHet=17.0548;FS=5.503;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=57.19;MQRankSum=-10.74;QD=2.14;ReadPosRankSum=-0.277;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:539,0:617:99:0|1:100955893_T_A:1653,3275,25908:100955893	18	0	1	0
chr7	100956781	100956781	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T5002G:p.S1668A	.	860	661	1	0	0	1	0.000755858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944543324	0.0015	0.0008	0.0016	0.0014	0.0313	0.0014	0.0013	0.0279	0.0267	0.0313	0.0038	0.0001	0	0	0.0029	0.0002	0.0053	0	0.0072	0.0097	0.0077	0.0067	0.0248	0.0069	0.0067	0.0235	0.0230	0.0248	0	0.0039	0	0	0	0	0.0002	0.0062	0	.	.	.	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.0055915117	0.00124	T	.	.	.	.	.	.	.	.	.	0.0036468178045043565	0.00341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167283	0.01556	T	.	.	.	.	.	.	.	.	-7.725	0.59699	D	.	.	0.095	0.14706	B	.;.	.;.	-0.269689	0.02752	0.369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.024000	0.00103	-20.000000	0.00162	-0.348000	0.05616	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	576	chr7	100956781	.	T	G	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=8862;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.07;QD=5.02;ReadPosRankSum=-1.258;SOR=0.828	GT:AD:DP:GQ:PL	0/0:454,0:454:99:0,120,1800	18	0	1	0
chr7	100956968	100956968	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5189T:p.T1730I	.	856	664	2	0	0	2	0.00150376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs965754241	0.0014	0.0008	0.0015	0.0013	0.0307	0.0013	0.0013	0.0274	0.0261	0.0307	0.0036	0.0001	0	0	0.0032	0.0002	0.0050	0	0.0077	0.0097	0.0081	0.0074	0.0264	0.0074	0.0072	0.0251	0.0246	0.0264	0	0.0039	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.005089104	0.00110	T	.	.	.	.	.	.	.	.	.	0.030267163852422653	0.02975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.03843	T	.	.	.	.	.	.	.	.	-5.658	0.43800	T	.	.	0.193	0.41264	B	.;.	.;.	0.734185	0.11034	7.690	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.078000	0.30365	-2.045000	0.04296	0.431000	0.20936	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4587.33	718	chr7	100956968	.	C	T	4587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=10530;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=0.359;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:546,0:546:99:.:.:0,120,1800:.	18	0	1	0
chr7	100957412	100957412	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5633A:p.S1878Y	.	468	1046	7	1	0	9	0.00428367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010492342	0.0042	0.0037	0.0023	0.0060	0.0562	0.0041	0.0041	0.0545	0.0539	0.0002	0	0	8.263e-05	0	0.0014	9.114e-05	0.0031	0.0562	0.0031	0.0033	0.0015	0.0047	0.0958	0.0028	0.0028	0.0885	0.0857	0.0002	0	6.531e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0958	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.004273385	0.00086	T	.	.	.	.	.	.	.	.	.	0.008749316577987172	0.00838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348865	0.08742	T	.	.	.	.	.	.	.	.	-7.98	0.60934	D	.	.	0.212	0.44069	B	.;.	.;.	0.930575	0.13055	9.562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.557000	0.06076	-0.848000	0.07190	0.431000	0.20936	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6777.33	865	chr7	100957412	.	C	A	6777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.03;DP=9371;ExcessHet=0;FS=2.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.76;ReadPosRankSum=-0.569;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:632,0:632:99:.:.:0,120,1800:.	18	0	1	0
chr7	100959905	100959905	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8126A:p.S2709Y	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0087	0.0117812	0.0032	0.0316	0.0051	0	0	0.0003	0.0028	0.0001	0.0026455	409	154602	rs113556743	0.0012	0.0012	0.0013	0.0010	0.0334	0.0011	0.0011	0.0317	0.0310	0.0334	0.0038	0.0001	0	0	0.0059	0.0002	0.0036	6.886e-05	0.0078	0.0097	0.0080	0.0075	0.0266	0.0074	0.0073	0.0253	0.0248	0.0266	0	0.0039	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.12484	-1.0035	0.28903	T	0.009	0.03271	T	8	0.0030370355	0.00050	T	.	.	.	.	.	.	.	0.262662153117	0.25859	0.023389138063516585	0.02290	.	.	0.23295289278	0.02194	T	.	.	.	-0.153333	0.27790	T	-0.458028	0.26813	T	0.0279380984340737	0.01680	T	0.483352	0.14674	T	0.07446282	0.16711	0.10281069	0.24652	0.07446282	0.16710	0.10281069	0.24651	-6.599	0.51045	T	.	.	0.171	0.37615	B	.;.	.;.	1.947074	0.24733	16.50	0.97520130776065195	0.34400	0.03257	0.08287	N	AEFBI	0.062263	0.11958	N	-0.502779552826535	0.21990	1.171032	-0.728327570768278	0.16257	0.8591508	0.998357177224182	0.36814	0.632932	0.41330	0	0.563428	0.19063	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	1.3	1.3	0.20778	0.065000	0.14336	0.061000	0.14131	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	8.477	0.32179	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2121.33	567	chr7	100959905	.	C	A	2121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.051;DP=8218;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=-0.175;SOR=0.536	GT:AD:DP:GQ:PL	0/0:465,0:465:99:0,120,1800	18	0	1	0
chr7	100960529	100960529	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8750G:p.T2917S	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0089	0.0119808	0.0030	0.0315	0.0051	0	0	0.0002	0.0023	0.0001	0.0026649	412	154602	rs113201572	0.0012	0.0012	0.0014	0.0011	0.0342	0.0012	0.0012	0.0326	0.0319	0.0342	0.0037	0.0001	0	0	0.0059	0.0002	0.0039	6.956e-05	0.0078	0.0097	0.0079	0.0078	0.0267	0.0074	0.0073	0.0254	0.0249	0.0267	0	0.0040	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.488	0.11621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01999	-1.0019	0.29372	T	0.006	0.02093	T	8	0.00398463	0.00077	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.17947220472306272	0.17866	.	.	0.196509823203	0.00362	T	.	.	.	-0.391596	0.02628	T	-0.800277	0.01896	T	0.00174899185581667	0.00018	T	0.205679	0.02432	T	0.027316174	0.01907	0.037953395	0.03559	0.027316174	0.01906	0.037953395	0.03559	-4.135	0.25804	T	.	.	0.104	0.18869	B	.;.	.;.	-0.521270	0.01799	0.140	0.82009776349709973	0.13972	0.01430	0.04814	N	AEFDBI	0.065931	0.12887	N	-1.0925312850489	0.06780	0.3130877	-1.23241554967857	0.05396	0.25703	0.00393243710651931	0.10346	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	1.79	-0.414	0.11743	-2.239000	0.01281	-9.963000	0.00755	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2382:0.5976:0.0:0.1642	3.684	0.07855	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3136.33	839	chr7	100960529	.	C	G	3136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.281;DP=11034;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=1.72;SOR=0.911	GT:AD:DP:GQ:PL	0/0:584,0:584:99:0,120,1800	18	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:371,119:633:99:0|1:100960582_T_A:6320,815,15607:100960582	14	0	5	0
chr7	100991312	100991312	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C749T:p.T250M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0185160018677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270297201	2.815e-05	2.941e-05	1.852e-05	3.803e-05	3.786e-05	2.107e-05	1.85e-05	2.146e-05	1.836e-05	0	0	3.972e-05	2.798e-05	0	0	2.966e-05	3.443e-05	3.786e-05	6.574e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.019	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.7	0.12162	T	-0.71	0.22078	N	0.072	0.04547	-0.9858	0.33639	T	0.017	0.06950	T	7	0.10468501	0.19311	T	0.018516	0.40611	T	0.036	0.09122	0.229	0.15556	0.0482279557977	0.04254	0.01304130734709752	0.01262	.	.	0.511757791042	0.40468	T	0.003155	0.02556	T	-0.319755	0.06917	T	-0.697083	0.05987	T	0.104271096997551	0.12820	T	0.489851	0.15048	T	0.0344367	0.03864	0.042338684	0.05020	0.0344367	0.03864	0.042338684	0.05020	-3.077	0.30967	T	.	.	0.222	0.45248	B	.;.	.;.	1.324971	0.17293	13.08	0.92498514642634144	0.21934	0.00732	0.03068	N	AEFBI	0.039359	0.05705	N	-0.806979104065482	0.13131	0.6447661	-0.97077248228485	0.10445	0.5261158	1.29810242774381E-5	0.02871	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	0.737000	0.25812	-4.369000	0.02192	-1.895000	0.00529	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6678:0.0:0.3321	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5268.33	35	chr7	100991312	.	C	T	5268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.985;DP=4581;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.74;QD=12.37;ReadPosRankSum=0.304;SOR=0.569	GT:AD:DP:GQ:PL	0/0:378,0:378:99:0,120,1800	18	0	1	0
chr7	100991801	100991801	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1238C:p.H413P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00689184345042	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225570861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.24	0.17701	T	0.18	0.32461	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	2.69	0.12268	T	0.81	0.02442	N	0.079	0.06720	-0.9443	0.41927	T	0.016	0.06473	T	6	0.06573716	0.08912	T	0.006892	0.18233	T	0.036	0.09122	0.212	0.13066	0.110078149338	0.10416	0.002142621481111663	0.00198	.	.	0.437860071659	0.30285	T	0.003331	0.02738	T	-0.362085	0.04013	T	-0.757887	0.03188	T	0.0941602595747456	0.11702	T	0.157784	0.01569	T	0.09887075	0.23325	0.1328954	0.31880	0.09887075	0.23325	0.1328954	0.31879	-6.006	0.46330	T	.	.	0.244	0.47880	B	.;.	.;.	-0.309591	0.02575	0.315	0.15473610032953433	0.00380	0.00060	0.00440	N	AEFDBI	0.044639	0.07208	N	-1.00923827708304	0.08411	0.3942959	-1.19174302902404	0.06047	0.2899006	8.24819661054814E-5	0.04703	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	0.131	0.14055	-2.180000	0.01343	-0.143000	0.11497	-0.875000	0.02511	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3537.33	366	chr7	100991801	.	A	C	3537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=6945;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.474;SOR=0.766	GT:AD:DP:GQ:PL	0/0:499,0:499:99:0,120,1800	18	0	1	0
chr7	100991974	100991974	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1411G:p.S471G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0147797629134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.217e-07	6.84e-07	0	1.463e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.7	0.12268	T	-0.69	0.19720	N	0.047	0.02366	-0.9683	0.37551	T	0.015	0.05994	T	7	0.07978183	0.12873	T	0.01478	0.35118	T	0.032	0.07718	0.152	0.05544	0.0401082797425	0.02173	5.688263495414094E-4	0.00051	.	.	0.50385928154	0.39365	T	0.002984	0.02381	T	-0.354773	0.04435	T	-0.747384	0.03588	T	0.104106120132768	0.12802	T	0.335166	0.07140	T	0.079666615	0.18211	0.052018035	0.08486	0.079666615	0.18211	0.052018035	0.08486	-8.894	0.67012	D	.	.	0.262	0.49673	B	.;.	.;.	0.701240	0.10700	7.394	0.42413609012085912	0.03125	0.01396	0.04737	N	AEFDBI	0.058630	0.11015	N	-0.848877669490337	0.12077	0.5865472	-1.01103006230017	0.09542	0.4753306	8.91501781571813E-5	0.04703	0.615465	0.37627	0	0.524598	0.11158	1	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.695	0.695	0.17231	1.115000	0.30823	0.129000	0.15021	0.264000	0.18430	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.6644:0.0:0.3356:0.0	2.771	0.05005	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3187.33	384	chr7	100991974	.	A	G	3187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.593;DP=7698;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.709;SOR=0.634	GT:AD:DP:GQ:PL	0/0:499,0:499:99:0,120,1800	18	0	1	0
chr7	100993397	100993397	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2834G:p.T945S	.	671	840	6	5	0	16	0.00943396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0072	0	0	0	0	0	0.0179	0.0174	0.0006662	103	154602	rs765205985	0.0010	0.0008	0.0005	0.0014	0.0126	0.0009	0.0009	0.0118	0.0115	0.0001	0.0001	0	8.823e-05	0	0.0026	0.0002	0.0011	0.0126	0.0004	0.0005	0.0003	0.0005	0.0065	0.0003	0.0003	0.0041	0.0033	9.909e-05	0	0	0	0	0	0.0048	0.0003	0.0017	0.0065	0.02	0.49613	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.79	0.11298	T	-0.83	0.22727	N	0.14	0.16864	-0.9286	0.44342	T	0.011	0.04227	T	7	0.003388673	0.00059	T	.	.	.	0.015	0.02232	0.134	0.03833	0.0401082797425	0.02173	9.246147959354406E-4	0.00085	.	.	0.491496860981	0.37645	T	0.00264	0.02035	T	-0.676864	0.00050	T	-0.732721	0.04205	T	0.00196888577565584	0.00020	T	0.253875	0.03932	T	0.05397669	0.10294	0.040724274	0.04466	0.05397669	0.10293	0.040724274	0.04466	-6.96	0.53741	T	.	.	0.191	0.41000	B	.;.	.;.	1.192744	0.15842	12.14	0.2214539081257034	0.00877	0.00548	0.02514	N	AEFI	0.042964	0.06733	N	-0.980370220422049	0.09022	0.4253819	-1.12962237961425	0.07139	0.3461447	1.23114870679214E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	0.606000	0.23891	-6.987000	0.01258	-0.427000	0.05212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0E-4:0.5827:0.4172:0.0	4.574	0.11617	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003546	0.000000	0.000000	0.019231	0.000000	0.000000	0.000000	0.000000	0.03333	1605.13	72	chr7	100993397	.	C	G	1605.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.01;DP=1351;ExcessHet=0;FS=12.628;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.033;MQ=43.85;MQRankSum=-11.24;QD=6.83;ReadPosRankSum=-0.403;SOR=1.121	GT:AD:DP:GQ:PL	./.:.:.:.:.	14	0	1	4
chr7	100994108	100994108	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A3545G:p.H1182R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.028741821379	.	.	6.984e-05	0.0007	0	0	0	0	0	0	0.0011772	182	154602	rs201218466	0.0006	0.0019	0.0006	0.0006	0.0081	0.0005	0.0005	0.0072	0.0068	0.0026	0.0005	0	0.0081	0.0004	0	0.0003	0.0004	0.0004	0.0004	0.0012	0.0003	0.0005	0.0033	0.0003	0.0003	0.0017	0.0013	0.0005	0	0.0005	0.0004	0.0033	0.0002	0	0.0002	0	0	1.0	0.00964	T	0.364	0.16766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.24	0.00794	N	2.74	0.11730	T	-0.31	0.12099	N	0.038	0.01203	-0.9651	0.38191	T	0.012	0.04558	T	7	0.0061240494	0.00138	T	0.028742	0.51367	D	0.074	0.21613	0.219	0.14078	0.0138822411134	0.00435	4.259794090535132E-4	0.00038	.	.	0.474911868572	0.35357	T	0.003596	0.03000	T	-0.792253	0.00009	T	-0.908181	0.00447	T	0.0202716117844359	0.00727	T	0.157184	0.01425	T	0.02673691	0.01771	0.02661479	0.00760	0.02673691	0.01770	0.02661479	0.00760	-2.191	0.03997	T	.	.	0.046	0.00094	B	.;.	.;.	-1.117851	0.00619	0.016	0.34479452294690738	0.02111	0.00019	0.00214	N	AEFI	0.017705	0.00483	N	-1.5826508943659	0.01354	0.05897784	-1.76622058510419	0.00873	0.03904465	9.90481565889773E-5	0.04910	0.487112	0.14033	0	0.514364	0.08380	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-4.395000	0.00276	-20.000000	0.00162	-4.169000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2415:0.2152:0.2566:0.2868	0.093	0.00038	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03571	79.58	38	chr7	100994108	.	A	G	79.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.29;DP=888;ExcessHet=0;FS=52.728;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=54.99;MQRankSum=-8.996;QD=0.43;ReadPosRankSum=-0.234;SOR=6.088	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	0	1	5
chr7	100994332	100994332	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3769A:p.P1257T	.	955	564	2	1	0	4	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0273	0.0001921	5	26028	rs547313482	0.0010	0.0007	0.0006	0.0015	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0013	0.0254	0.0004	0.0004	0.0179	0.0154	0	0	0	0	0	0	0	3.988e-05	0	0.0254	0.268	0.16144	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.48	0.14783	T	-0.31	0.12099	N	0.03	0.01135	-0.9819	0.34561	T	0.018	0.07706	T	7	0.0038413107	0.00073	T	.	.	.	0.016	0.02506	0.139	0.04277	0.0401082797425	0.02173	0.003824477920115496	0.00358	.	.	0.505482077599	0.39592	T	0.002909	0.02309	T	-0.52578	0.00407	T	-0.80134	0.01869	T	0.00622041473207226	0.00069	T	0.373163	0.08852	T	0.03307861	0.03456	0.043670386	0.05483	0.03307861	0.03455	0.043670386	0.05483	-6.811	0.52641	T	.	.	0.134	0.29088	B	.;.	.;.	0.826476	0.11977	8.537	0.36194981064846504	0.02315	0.00111	0.00708	N	AEFI	0.036619	0.04908	N	-1.0677552779539	0.07244	0.3359142	-1.26294764009368	0.04941	0.2343246	1.29486472340696E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-1.465000	0.02463	-3.050000	0.03106	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3501:0.0:0.6498	3.763	0.08136	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.06667	4424.73	.	chr7	100994332	.	C	A	4424.73	.	AC=2;AF=0.067;AN=30;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=0.6309;MLEAC=3;MLEAF=0.1;MQ=36.98;QD=32.73;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	14	1	0	4
chr7	100994333	100994333	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3770A:p.P1257H	.	952	567	2	1	0	4	0.00351494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.000998403	0.0121	0	0	0	0	0	0	0.0275	0.0001921	5	26028	rs565859559	0.0011	0.0007	0.0006	0.0016	0.0135	0.0010	0.0010	0.0126	0.0123	0.0001	0	0	0	0	0.0017	0.0001	0.0006	0.0135	0.0006	0.0004	0	0.0012	0.0253	0.0004	0.0004	0.0178	0.0154	0	0	0	0	0	0	0	3.981e-05	0	0.0253	0.002	0.72154	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.44	0.15261	T	-1.5	0.36586	N	0.078	0.05287	-0.9976	0.30590	T	0.020	0.08593	T	7	0.004235536	0.00085	T	.	.	.	0.066	0.19193	0.132	0.03662	0.149567049428	0.14543	0.0038821372414133675	0.00364	.	.	0.503758072853	0.39351	T	0.003253	0.02657	T	-0.435161	0.01381	T	-0.671824	0.07492	T	0.0368080220796572	0.03123	T	0.329867	0.06895	T	0.09555348	0.22489	0.101211056	0.24223	0.09555348	0.22489	0.101211056	0.24223	-8.455	0.64131	D	.	.	0.236	0.47016	B	.;.	.;.	1.601073	0.20470	14.76	0.46275365916339445	0.03694	0.00854	0.03405	N	AEFI	0.040384	0.06000	N	-0.832598821860392	0.12483	0.6087178	-1.00264680829362	0.09727	0.4856046	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-0.431000	0.07034	-0.744000	0.07606	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6678:0.0:0.3321	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.06667	4424.73	.	chr7	100994333	.	C	A	4424.73	.	AC=2;AF=0.067;AN=30;DP=514;ExcessHet=0;FS=0;InbreedingCoeff=0.6309;MLEAC=3;MLEAF=0.1;MQ=37.35;QD=30.75;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	14	1	0	4
chr7	100994984	100994984	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4421T:p.T1474I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00534976568136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.707e-06	1.504e-05	3.866e-06	3.561e-06	4.153e-05	6.2e-07	2.3e-07	6.89e-06	2.58e-06	0	0	0	0	0	0	0	0	4.153e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.74	0.11730	T	-1.21	0.30762	N	0.034	0.01421	-0.9700	0.37200	T	0.019	0.07800	T	6	0.08589712	0.14548	T	0.00535	0.13710	T	0.041	0.10877	0.141	0.04462	0.0482279557977	0.04254	0.006246954363590508	0.00593	.	.	0.567522287369	0.48328	T	0.002699	0.02096	T	-0.339648	0.05412	T	-0.725658	0.04527	T	0.0504337304905048	0.05576	T	0.217778	0.03711	T	0.07268244	0.16186	0.09967598	0.23806	0.07268244	0.16186	0.09967598	0.23806	-7.643	0.60531	D	.	.	0.235	0.52622	B	.;.	.;.	0.953916	0.13303	9.804	0.88896476252633649	0.18344	0.00566	0.02572	N	AEFI	0.025849	0.01841	N	-0.856819223693405	0.11882	0.5759728	-1.02505340551202	0.09235	0.4583428	1.64293550208317E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.722	0.722	0.17379	0.004000	0.13007	-3.184000	0.02990	0.375000	0.20354	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	49.62	6	chr7	100994984	.	C	T	49.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=171;ExcessHet=0;FS=0;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.026;MQ=27.12;MQRankSum=0.14;QD=5.51;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:48:.:.:0,48,720:.	18	0	1	0
chr7	100995937	100995937	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5374T:p.G1792C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00612287349775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.486e-06	5.597e-06	5.469e-06	5.503e-06	7.242e-06	1.97e-06	1.3e-06	2.6e-06	1.71e-06	0	0	0	0	0	0	7.242e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.31	0.16794	T	-0.79	0.21860	N	0.151	0.17278	-0.9845	0.33951	T	0.020	0.08407	T	7	0.08248639	0.13620	T	0.006123	0.16023	T	0.035	0.08770	0.218	0.13932	0.137902524267	0.13322	0.0032500192174785936	0.00303	.	.	0.486316412687	0.36929	T	0.004137	0.03552	T	-0.280191	0.10646	T	-0.640251	0.09650	T	0.0374234216572898	0.03230	T	0.370863	0.11651	T	0.08484297	0.19656	0.04972552	0.07656	0.08484297	0.19655	0.04972552	0.07656	-11.382	0.81711	D	.	.	0.264	0.52614	B	.;.	.;.	1.422400	0.18392	13.71	0.37227393685568511	0.02440	0.00536	0.02476	N	AEFI	0.055904	0.10291	N	-0.942231206196823	0.09868	0.468968	-1.12083333342277	0.07303	0.3546979	1.16466427382349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.0	-0.193	0.12593	0.521000	0.22601	-2.062000	0.04270	0.385000	0.20450	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.406:0.594:0.0	4.676	0.12096	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1722.81	32	chr7	100995937	.	G	T	1722.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=40;QD=35.78;SOR=7.569	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chr7	100999777	100999777	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9214C:p.V3072L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0151709183532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313235451	0	8.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.576e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.322	0.14111	T	0.033	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.73	0.11839	T	-0.5	0.15782	N	0.023	0.01577	-0.9575	0.39644	T	0.015	0.05801	T	7	0.07019991	0.10180	T	0.015171	0.35746	T	0.061	0.17616	0.116	0.02439	0.0401082797425	0.02173	0.010339168735741642	0.00994	.	.	0.508254766464	0.39978	T	0.004718	0.04133	T	-0.39767	0.02398	T	-0.809002	0.01688	T	0.0361940557846813	0.03015	T	0.248475	0.03691	T	0.055683732	0.10854	0.032593712	0.02018	0.055683732	0.10853	0.032593712	0.02018	-6.669	0.51577	T	.	.	0.314	0.58304	B	.;.	.;.	0.675313	0.10439	7.158	0.65539096131327823	0.07801	0.01125	0.04098	N	AEFI	0.042372	0.06565	N	-0.964521093957769	0.09369	0.4431465	-1.1384068619558	0.06977	0.3377558	1.16305047027516E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.869	-0.124	0.12863	0.209000	0.17231	-0.565000	0.08457	0.251000	0.18332	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.338:0.0:0.662:0.0	3.159	0.06122	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.33	51	chr7	100999777	.	G	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.84;DP=988;ExcessHet=0;FS=17.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.82;MQRankSum=0.577;QD=1.16;ReadPosRankSum=-0.771;SOR=0.002	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	100999834	100999834	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9271A:p.A3091T	.	462	1038	22	0	0	22	0.0104862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0118805894723	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147697272	4.529e-06	0.0003	2.979e-06	6.122e-06	1.336e-05	1.63e-06	1.07e-06	1.42e-06	1.03e-06	0	0	0	0	0	0	4.835e-06	0	1.336e-05	0.0001	0.0034	0.0001	0.0001	0.0003	7.688e-05	6.373e-05	0.0002	0.0002	0.0003	0	6.612e-05	0	0	9.446e-05	0	2.97e-05	0	0.0002	0.117	0.28271	T	0.25	0.23707	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.65	0.12676	T	0.38	0.03700	N	0.026	0.03283	-0.9374	0.43025	T	0.013	0.04938	T	7	0.05045861	0.04783	T	0.011881	0.29939	T	0.001	0.00016	0.116	0.02439	0.0297737177859	0.01360	0.010246021458631826	0.00986	.	.	0.509776294231	0.40191	T	0.00365	0.03060	T	-0.41745	0.01776	T	-0.837414	0.01138	T	0.0442432217210362	0.04464	T	0.232777	0.03611	T	0.02471517	0.01331	0.040714942	0.04463	0.02471517	0.01331	0.040714942	0.04463	-2.016	0.03242	T	.	.	0.099	0.16582	B	.;.	.;.	-0.465638	0.01980	0.173	0.79908635840154496	0.12956	0.00180	0.01055	N	AEFI	0.030282	0.03017	N	-1.33470684704216	0.03286	0.1465343	-1.48318087727813	0.02482	0.1142237	1.19783675759286E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.869	-0.109	0.12922	-0.982000	0.03873	-8.331000	0.00988	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2687:0.0:0.7313:0.0	4.332	0.10507	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	134.33	214	chr7	100999834	.	G	A	134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.965;DP=2044;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.08;MQRankSum=-5.588;QD=0.71;ReadPosRankSum=-1.567;SOR=0.023	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006024	0.000000	0.005051	0.007576	0.000000	0.027778	0.010417	0.010870	0.02632	3062.33	2571	chr7	101000293	.	A	G	3062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.29;DP=34008;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.55;MQRankSum=-0.705;QD=1.87;ReadPosRankSum=-0.028;SOR=0.871	GT:AD:DP:GQ:PL	0/0:3232,0:3232:99:0,120,1800	18	0	1	0
chr7	101000330	101000330	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9767T:p.T3256I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00798514666272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335016505	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.561e-06	2.624e-05	0	1.342e-05	2.404e-05	0	0	.	.	2.404e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.9	0.23182	L	2.74	0.11730	T	-2.21	0.49684	N	0.102	0.08506	-0.9635	0.38507	T	0.017	0.07092	T	6	0.11649251	0.21976	T	0.007985	0.21162	T	0.044	0.11924	0.182	0.09004	0.0482279557977	0.04254	0.10915055494652391	0.10844	.	.	0.504799723625	0.39497	T	0.009612	0.08738	T	-0.398301	0.02376	T	-0.687364	0.06543	T	0.0791267643741412	0.09874	T	0.228477	0.03050	T	0.06009954	0.12292	0.117392175	0.28340	0.06009954	0.12292	0.117392175	0.28339	-7.021	0.54187	T	.	.	0.188	0.40441	B	.;.	.;.	0.629936	0.09986	6.738	0.25540431256851609	0.01182	0.00327	0.01711	N	AEFBI	0.035370	0.04540	N	-0.93828191547207	0.09957	0.4736184	-1.12678533608973	0.07191	0.3489014	1.17319446599152E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-1.407000	0.02594	-3.429000	0.02794	-2.333000	0.00313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001176	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2943.33	759	chr7	101000330	.	C	T	2943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=26552;ExcessHet=0;FS=2.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.84;MQRankSum=-11.58;QD=1.34;ReadPosRankSum=0.203;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2018,0:2018:99:.:.:0,120,1800:.	18	0	1	0
chr7	101003402	101003402	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12839A:p.G4280D	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00485570496628	.	0.000399361	0.0018	0.0009	0.0026	0	0	0	0	0.0045	7.68e-05	2	26028	rs549751973	0.0003	0.0002	0.0001	0.0004	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0002	1.86e-06	0.0002	0.0042	0.0001	0.0001	5.552e-05	0.0002	0.0033	7.145e-05	5.754e-05	0.0020	0.0016	2.862e-05	0	0	0	0	0	0	0	0	0.0033	0.215	0.19293	T	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.35	0.16351	T	-1.29	0.32387	N	0.1	0.09207	-0.9663	0.37954	T	0.015	0.06090	T	7	0.0061383545	0.00138	T	0.004856	0.12161	T	0.014	0.01968	0.179	0.08626	0.0401082797425	0.02173	0.024211144881665914	0.02372	.	.	0.435382336378	0.29946	T	0.004455	0.03857	T	-0.653733	0.00069	T	-0.712657	0.05159	T	0.0135081489035169	0.00248	T	0.256974	0.04034	T	0.044930454	0.07269	0.06393514	0.12740	0.044930454	0.07268	0.06393514	0.12740	-8.019	0.61199	D	.	.	0.262	0.49816	B	.;.	.;.	1.063506	0.14453	11.03	0.28466034784446759	0.01463	0.00254	0.01397	N	AEFBI	0.048083	0.08168	N	-1.42856163520965	0.02391	0.1055172	-1.61124357947491	0.01588	0.07202502	1.14122616306531E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.02	-2.05	0.06916	-0.690000	0.05240	-6.601000	0.01354	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3126:0.3202:0.3672	3.717	0.07970	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	6292.72	124	chr7	101003402	.	G	A	6292.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.76;DP=3784;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=46.36;MQRankSum=14.69;QD=13.62;ReadPosRankSum=0.669;SOR=0.72	GT:AD:DP:GQ:PL	0/0:169,0:169:99:0,120,1800	17	0	1	1
chr7	101004436	101004436	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G13873T:p.G4625C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0569942024957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.783e-06	5.472e-06	7.134e-06	4.396e-06	7.422e-06	2.49e-06	1.8e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.422e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.31	0.16794	T	-1.0	0.26422	N	0.08	0.19325	-0.9873	0.33273	T	0.023	0.09878	T	6	0.092942655	0.16407	T	0.056994	0.66806	D	0.027	0.05988	0.227	0.15257	0.183819452728	0.17975	4.6860076071745214E-4	0.00042	.	.	0.56988888979	0.48662	T	0.006485	0.05912	T	-0.30002	0.08658	T	-0.668734	0.07690	T	0.0739150188439588	0.09190	T	0.359964	0.08281	T	0.26903483	0.49976	0.15841709	0.36995	0.26903483	0.49976	0.15841709	0.36994	-12.734	0.88237	D	.	.	0.182	0.39528	B	.;.	.;.	1.580866	0.20228	14.65	0.37768770153843872	0.02508	0.03633	0.08878	N	AEFBI	0.058076	0.10869	N	-0.764042844098718	0.14254	0.7085761	-0.920108990023474	0.11620	0.5930971	1.5846245711235E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	2.091000	0.41316	-2.047000	0.04293	0.215000	0.18024	0.177000	0.24026	0.000000	0.08366	0.002000	0.04165	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4761.81	60	chr7	101004436	.	G	T	4761.81	.	AC=2;AF=0.053;AN=38;DP=1440;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=44.15;QD=34.51;SOR=3.007	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	1	0	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.07895	9769.79	60	chr7	101004493	.	C	G	9769.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=1864;ExcessHet=0.3672;FS=0.533;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.01;MQRankSum=1.68;QD=12.97;ReadPosRankSum=-0.725;SOR=0.659	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	16	0	3	0
chr7	101004670	101004670	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A14107C:p.T4703P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0143237047126	.	.	4.62e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs763683438	2.888e-06	2.737e-06	4.276e-06	1.463e-06	0.0002	6.8e-07	4.6e-07	.	.	0	2.801e-05	3.971e-05	0	0	0.0002	9.271e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	2.71	0.12162	T	-1.79	0.43717	N	0.094	0.11197	-0.9654	0.38132	T	0.017	0.07045	T	7	0.07636461	0.11921	T	0.014324	0.34357	T	0.039	0.10176	0.127	0.03251	0.0401082797425	0.02173	0.03270743247242426	0.03218	.	.	0.559654533863	0.47219	T	0.047189	0.27649	T	-0.307717	0.07951	T	-0.67979	0.06996	T	0.102473852158767	0.12627	T	0.156584	0.01380	T	0.14611621	0.33464	0.11687267	0.28213	0.14611621	0.33464	0.11687267	0.28212	-7.424	0.57073	T	.	.	0.074	0.05231	B	.;.	.;.	1.319452	0.17233	13.04	0.34688142490920543	0.02136	0.00126	0.00785	N	AEFDBI	0.039896	0.05858	N	-0.908429845638357	0.10644	0.5096263	-1.0845595066731	0.08003	0.3916775	1.89188396802371E-4	0.05844	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	0.588	0.588	0.16630	0.035000	0.13685	0.400000	0.17989	0.279000	0.18609	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.9999:0.0:1.0E-4:0.0	5.546	0.16351	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3870.33	327	chr7	101004670	.	A	C	3870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=4076;ExcessHet=0;FS=1.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-1.05;SOR=0.788	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	18	0	1	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F	.	423	1086	13	0	0	13	0.00594966	.	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003432	0.000000	0.000000	0.000000	0.000000	0.000000	0.011494	0.000000	0.05263	3723.83	33	chr7	101006477	.	G	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.881;DP=922;ExcessHet=0.119;FS=0.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.196;SOR=0.759	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr7	101031186	101031186	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon2:c.G149A:p.R50H	.	429	1083	9	1	0	11	0.00505282	.	.	.	4013916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00143456865325	0.0019	0.000798722	0.0018	0.0007	0.0003	0	0.0005	0.0028	0.0044	0.0009	0.0018176	281	154602	rs144369997	0.0029	0.0029	0.0028	0.0029	0.0034	0.0028	0.0027	0.0033	0.0033	0.0006	0.0006	0.0016	0	0.0010	0.0005	0.0034	0.0028	0.0012	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0025	0.0005	0	0.0008	0.0014	0	0.0008	0.0034	0.0030	0.0024	0.0027	0.0	0.91255	D	.	.	.	0.158	0.28271	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.12	0.02891	T	0.12	0.05604	N	0.067	0.03956	-0.9066	0.47262	T	0.005	0.01651	T	9	0.0067336857	0.00153	T	0.001435	0.02139	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.015364673655540102	0.01492	.	.	0.278332769871	0.07261	T	0.017712	0.14403	T	-0.653524	0.00069	T	-0.714883	0.05047	T	0.00651844638449271	0.00073	T	0.417158	0.10968	T	0.04630725	0.07727	0.05578367	0.09850	0.04630725	0.07727	0.05578367	0.09850	-4.11	0.25438	T	.	.	0.108	0.20274	B	.	.	0.520196	0.08890	5.670	0.75575770760871619	0.11128	0.00590	0.02647	N	AEFDBHCI	0.041666	0.06366	N	-1.23987810381628	0.04434	0.2001198	-1.29264525869418	0.04529	0.2138471	0.0121931257980424	0.12292	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	1.9	1.01	0.19044	-0.305000	0.08227	-0.002000	0.13189	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.69:0.31:0.0	6.422	0.20951	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1035.33	34	chr7	101031186	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.775;SOR=0.704	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr7	101032120	101032120	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C704T:p.T235I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000884629925838	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs777204968	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	1.319e-05	1.316e-05	2.577e-05	0	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.0	0.91255	D	.	.	.	0.563	0.38396	P	0.095	0.30245	B	.	.	.	.	1	0.08975	N	2.485	0.72352	M	4.3	0.02437	T	-0.75	0.21003	N	0.15	0.15328	-0.8993	0.48064	T	0.005	0.01688	T	9	0.12229389	0.23197	T	8.85E-4	0.00800	T	0.026	0.05648	0.272	0.22210	0.0297737177859	0.01360	0.004561145637695706	0.00429	.	.	0.275673866272	0.06896	T	0.01815	0.14683	T	-0.281809	0.10477	T	-0.642576	0.09483	T	0.0961414482620685	0.11927	T	0.463654	0.13513	T	0.08271172	0.19066	0.09347963	0.22081	0.08271172	0.19066	0.09347963	0.22080	-6.773	0.52358	T	.	.	0.195	0.41648	B	.	.	-0.065253	0.03855	0.832	0.30372307748342864	0.01658	0.00247	0.01365	N	AEFBI	0.039000	0.05601	N	-0.981590958415658	0.08996	0.4240298	-1.12199192631362	0.07281	0.3535711	1.46674520304497E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	0.792	0.792	0.17769	-0.108000	0.10827	-3.224000	0.02956	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.934	0.13285	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	7110.33	547	chr7	101032120	.	C	T	7110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.983;DP=3795;ExcessHet=0;FS=1.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.59;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1223:.	18	0	1	0
chr7	101034612	101034612	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3196G:p.P1066A	.	423	980	102	9	8	128	0.0576923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0010864451499	.	0.000399361	0.0003	0	8.639e-05	0.0001	0	0.0003	0	0.0005	0.0002264	35	154602	rs78263695	9.652e-05	9.921e-05	7.356e-05	0.0001	0.0014	8.315e-05	7.855e-05	0.0007	0.0005	0	4.477e-05	0	0	1.873e-05	0.0014	6.747e-05	0.0002	0.0005	9.205e-05	9.854e-05	9.007e-05	9.412e-05	0.0002	5.531e-05	4.367e-05	9.047e-05	7.012e-05	2.417e-05	0	6.544e-05	0	0	0	0	0.0002	0	0.0002	0.13	0.26740	T	.	.	.	0.544	0.37968	P	0.095	0.30245	B	.	.	.	.	0.99997	0.18612	N	2.035	0.55589	M	4.04	0.03121	T	0.05	0.06369	N	0.045	0.01740	-0.9085	0.47037	T	0.005	0.01651	T	9	0.022467583	0.00562	T	0.001086	0.01263	T	0.027	0.05988	0.104	0.01698	0.0297737177859	0.01360	0.001187076941771632	0.00109	.	.	0.199309319258	0.00437	T	0.018844	0.15118	T	-0.62574	0.00102	T	-0.808648	0.01695	T	0.0201804642983436	0.00718	T	0.448055	0.12582	T	0.018036293	0.00325	0.030982615	0.01624	0.018036293	0.00325	0.030982615	0.01624	-7.662	0.58743	D	.	.	0.075	0.05491	B	.	.	-1.641980	0.00220	0.003	0.40209710243365476	0.02823	0.00436	0.02133	N	AEFGBI	0.048602	0.08311	N	-1.31300172886873	0.03525	0.1576335	-1.46253417212837	0.02659	0.12267	5.07649647380326E-4	0.07176	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.373	-0.746	0.10535	-6.271000	0.00089	-20.000000	0.00162	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6741:0.0:0.3259	4.476	0.11155	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	14586.8	2155	chr7	101034612	.	C	G	14586.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=20326;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=3.61;QD=7.91;ReadPosRankSum=2.71;SOR=0.735	GT:AD:DP:GQ:PL	0/0:625,0:625:99:0,120,1800	18	0	1	0
chr7	101036482	101036482	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5066C:p.R1689T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00100560631506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.844e-07	0	1.378e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.11227	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.79	0.03809	T	0.8	0.01866	N	0.071	0.04426	-0.9151	0.46207	T	0.006	0.01981	T	8	0.054650098	0.05852	T	0.001006	0.01073	T	0.008	0.00669	0.222	0.14518	0.0138822411134	0.00435	0.007970867541845285	0.00762	.	.	0.383622050285	0.22769	T	0.01747	0.14250	T	-0.364177	0.03899	T	-0.760891	0.03081	T	0.047299284054006	0.05019	T	0.322168	0.06550	T	0.065495774	0.14001	0.07293041	0.15790	0.065495774	0.14001	0.07293041	0.15790	-3.464	0.15931	T	.	.	0.071	0.03887	B	.	.	0.048768	0.04628	1.291	0.12522442460642408	0.00220	0.00353	0.01817	N	AEFBI	0.024304	0.01484	N	-1.8159173437212	0.00507	0.02183689	-1.88284214031458	0.00529	0.02346033	1.37980174073317E-4	0.05486	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.677812	0.66336	0	.	.	0.579	-1.16	0.09181	1.103000	0.30674	-2.916000	0.03233	-1.495000	0.01039	0.009000	0.18154	0.000000	0.08366	0.000000	0.00833	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	214.11	777	chr7	101036482	.	G	C	214.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-11.8;DP=9770;ExcessHet=0;FS=146.997;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.39;MQRankSum=-5.592;QD=0.38;ReadPosRankSum=1.2;SOR=9.811	GT:AD:DP:GQ:PL	0/0:519,0:519:99:0,120,1800	16	0	1	2
chr7	101036950	101036950	T	0	exonic	MUC17	.	.	.	.	412	950	152	0	8	160	0.0740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4940.88	951	chr7	101036950	.	T	*	4940.88	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=10974;ExcessHet=2.0135;FS=5.325;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=55.31;MQRankSum=-13.01;QD=1.09;ReadPosRankSum=2.69;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101036953	101036953	G	0	exonic	MUC17	.	.	.	.	413	945	155	0	9	164	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5758.0	952	chr7	101036953	.	G	*	5758.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.732;DP=11101;ExcessHet=2.9153;FS=5.325;InbreedingCoeff=-0.225;MLEAC=1;MLEAF=0.026;MQ=55.29;MQRankSum=-13.21;QD=1.13;ReadPosRankSum=2.08;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101036962	101036962	C	0	exonic	MUC17	.	.	.	.	411	935	168	0	8	176	0.0824338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7265.03	934	chr7	101036962	.	C	*	7265.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.615;DP=11113;ExcessHet=2.9153;FS=3.887;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.14;MQRankSum=-13.27;QD=1.43;ReadPosRankSum=2.99;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101036967	101036967	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5551A:p.P1851T	.	413	1097	5	3	4	15	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0143	0.0984425	0.0331	0.0531	0.0470	0.119	0.0235	0.0020	0.0404	0.1047	0.0196711	512	26028	rs146323653	0.0029	0.0038	0.0028	0.0030	0.0255	0.0028	0.0028	0.0246	0.0242	0.0238	0.0042	0	0.0174	0.0009	0.0028	0.0002	0.0087	0.0255	0.0013	0.0018	0.0013	0.0013	0.0067	0.0012	0.0011	0.0046	0.0039	0.0030	0	0.0012	0	0.0052	0.0011	0	7.383e-05	0.0020	0.0067	0.47	0.08483	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.215	0.00119	N	4.01	0.03208	T	-0.17	0.09627	N	0.013	0.00142	-0.9539	0.40292	T	0.000	0.00011	T	9	0.001913935	0.00026	T	.	.	.	0.038	0.09825	.	.	.	.	0.008167875960877372	0.00781	.	.	0.307297408581	0.11498	T	0.017686	0.14383	T	-0.848023	0.00003	T	-0.917049	0.00394	T	0.00526121026644924	0.00057	T	0.337066	0.07215	T	0.024168309	0.01222	0.036329627	0.03057	0.024168309	0.01222	0.036329627	0.03056	-5.758	0.44207	T	.	.	0.055	0.00368	B	.	.	-1.502060	0.00293	0.005	0.3020599618988527	0.01640	0.00015	0.00188	N	AEFGBI	0.023075	0.01237	N	-2.18235591645393	0.00084	0.003590284	-2.25569835555309	0.00084	0.003681959	0.00982018823274634	0.11918	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.557000	0.00482	-20.000000	0.00162	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3143:0.4394:0.0:0.2462	2.898	0.05348	830	0.39242	.	.	.	.	.	rs146323653	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.028013	0.015152	0.012228	0.032787	0.000000	0.008621	0.009146	0.090909	0.05556	9252.58	901	chr7	101036967	.	C	A	9252.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.16;DP=10975;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.62;MQRankSum=0.386;QD=8.28;ReadPosRankSum=0.681;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101036970	101036970	G	0	exonic	MUC17	.	.	.	.	415	931	168	0	8	176	0.0827586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7852.03	920	chr7	101036970	.	G	*	7852.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.583;DP=11115;ExcessHet=2.9153;FS=5.105;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=-13.06;QD=1.55;ReadPosRankSum=3.14;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101036975	101036975	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5559C:p.E1853D	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	0.0083	0.0972444	0.0329	0.0527	0.0470	0.119	0.0235	0.0020	0.0402	0.1030	0.0189796	494	26028	rs148675022	0.0019	0.0037	0.0019	0.0020	0.0170	0.0019	0.0018	0.0162	0.0159	0.0164	0.0022	0	0.0123	0.0004	0.0016	0.0001	0.0059	0.0170	0.0011	0.0018	0.0010	0.0011	0.0053	0.0009	0.0009	0.0034	0.0029	0.0024	0	0.0010	0	0.0046	0.0011	0	7.372e-05	0.0015	0.0053	0.279	0.15561	T	.	.	.	0.023	0.18885	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	4.25	0.02564	T	-0.19	0.09965	N	0.014	0.00160	-0.8966	0.48331	T	0.003	0.00800	T	9	0.0023345947	0.00034	T	.	.	.	0.005	0.00259	0.114	0.02306	.	.	0.003600133997673742	0.00337	.	.	0.318828165531	0.13244	T	0.018853	0.15125	T	-0.797276	0.00008	T	-0.864555	0.00796	T	0.0040418192727935	0.00043	T	0.288571	0.05217	T	0.048784774	0.08559	0.0455507	0.06155	0.048784774	0.08559	0.0455507	0.06154	-7.579	0.58164	D	.	.	0.187	0.40344	B	.	.	-0.266440	0.02767	0.373	0.15931405405746954	0.00408	0.00495	0.02340	N	AEFGBI	0.061181	0.11677	N	-1.44277843029105	0.02274	0.1002479	-1.54095469140167	0.02039	0.0931966	6.31312032253946E-4	0.07505	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	-2.775000	0.00847	-3.288000	0.02904	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.014799	0.010101	0.006793	0.016393	0.000000	0.000000	0.006098	0.049242	0.05556	8522.58	903	chr7	101036975	.	A	C	8522.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.819;DP=10898;ExcessHet=0.119;FS=2.082;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.42;MQRankSum=-0.338;QD=7.71;ReadPosRankSum=-0.363;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101036980	101036980	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5564G:p.T1855S	.	415	1094	5	3	5	16	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0974441	0.0326	0.0520	0.0470	0.1188	0.0235	0.0020	0.0402	0.1011	0.0189411	493	26028	rs141195508	0.0012	0.0036	0.0011	0.0012	0.0103	0.0011	0.0011	0.0097	0.0094	0.0091	0.0015	0	0.0088	0.0004	0.0011	7.293e-05	0.0033	0.0103	0.0009	0.0017	0.0009	0.0009	0.0050	0.0008	0.0007	0.0032	0.0027	0.0021	0	0.0010	0	0.0032	0.0007	0	5.897e-05	0.0010	0.0050	0.046	0.40573	D	.	.	.	0.886	0.48745	P	0.126	0.32692	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.34	0.02341	T	-0.26	0.11185	N	0.019	0.00279	-0.8695	0.50567	T	0.004	0.01400	T	9	0.002970755	0.00048	T	.	.	.	0.022	0.04323	0.118	0.02577	.	.	0.0033279495015064546	0.00310	.	.	0.313005208969	0.12361	T	0.016925	0.13896	T	-0.728087	0.00025	T	-0.777643	0.02526	T	0.0111646505528084	0.00163	T	0.273273	0.04638	T	0.028086957	0.02093	0.04039063	0.04356	0.028086957	0.02092	0.04039063	0.04355	-7.054	0.54427	T	.	.	0.125	0.26263	B	.	.	-0.481825	0.01927	0.162	0.18751851816912099	0.00603	0.01221	0.04330	N	AEFGBI	0.053237	0.09575	N	-1.00577024279366	0.08484	0.3979318	-1.18644816366495	0.06135	0.2943982	9.29109817510881E-4	0.08013	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.378	0.11875	-2.310000	0.01210	-3.435000	0.02789	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3073:0.6927:0.0:0.0	5.867	0.18031	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	7513.58	903	chr7	101036980	.	C	G	7513.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=8.78;DP=10856;ExcessHet=0.119;FS=0.638;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.28;MQRankSum=-1.019;QD=6.94;ReadPosRankSum=-0.288;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101036987	101036987	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5571G:p.I1857M	.	414	1096	5	3	4	15	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.095647	0.0315	0.0482	0.0468	0.1181	0.0235	0.0020	0.0391	0.0959	0.0185185	482	26028	rs529733229	0.0004	0.0028	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0041	0.0021	0.0005	0	0.0049	0.0003	0.0002	1.441e-05	0.0009	0.0040	0.0008	0.0016	0.0008	0.0008	0.0039	0.0007	0.0006	0.0024	0.0019	0.0018	0	0.0007	0	0.0032	0.0006	0	5.9e-05	0.0010	0.0039	0.498	0.07797	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.22	0.02640	T	-0.11	0.08653	N	0.007	0.00055	-0.9180	0.45824	T	0.004	0.01330	T	9	0.002025187	0.00029	T	.	.	.	0.017	0.02790	.	.	.	.	0.0045953391162681006	0.00432	.	.	0.289408802986	0.08836	T	0.017638	0.14358	T	-0.761262	0.00015	T	-0.839816	0.01101	T	0.00139843970367867	0.00014	T	0.256474	0.04006	T	0.033943307	0.03713	0.04277209	0.05172	0.033943307	0.03713	0.04277209	0.05172	-3.979	0.23488	T	.	.	0.075	0.05447	B	.	.	-1.288929	0.00448	0.009	0.16073283758156165	0.00417	0.00033	0.00296	N	AEFGBI	0.026552	0.02014	N	-1.81936807619775	0.00499	0.02149962	-1.87946331982856	0.00537	0.02382829	0.00107390509056506	0.08194	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.746	0.10535	-3.464000	0.00514	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5762:0.0:0.4238:0.0	4.446	0.11018	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.003788	0.05556	6256.58	903	chr7	101036987	.	A	G	6256.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.52;DP=10809;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.01;MQRankSum=-2.186;QD=6.03;ReadPosRankSum=-2.173;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101036988	101036988	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5572C:p.A1858P	.	419	1091	5	3	4	15	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.095647	0.0315	0.0482	0.0468	0.1180	0.0235	0.0020	0.0391	0.0957	0.0185569	483	26028	rs139009576	0.0004	0.0028	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0015	0.0004	0	0.0045	0.0002	0	9.906e-06	0.0007	0.0035	0.0008	0.0016	0.0007	0.0008	0.0039	0.0006	0.0006	0.0024	0.0019	0.0017	0	0.0006	0	0.0033	0.0006	0	5.92e-05	0.0010	0.0039	0.372	0.11478	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	4.15	0.02815	T	0.05	0.06369	N	0.053	0.02462	-0.9360	0.43241	T	0.003	0.01059	T	9	0.0026809275	0.00041	T	.	.	.	0.026	0.05648	.	.	.	.	0.02903108957003057	0.02852	.	.	0.296740233898	0.09916	T	0.017693	0.14390	T	-0.711379	0.00031	T	-0.768163	0.02829	T	0.00329269740675991	0.00035	T	0.304969	0.05824	T	0.043084126	0.06653	0.050497707	0.07939	0.043084126	0.06652	0.050497707	0.07939	-2.712	0.07404	T	.	.	0.087	0.11027	B	.	.	-0.868193	0.00980	0.039	0.24002919280004392	0.01041	0.00011	0.00159	N	AEFGBI	0.017581	0.00471	N	-2.0766285698698	0.00144	0.006166915	-2.15095754879182	0.00144	0.006337654	0.0149628824962402	0.12659	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.812000	0.00405	-4.376000	0.02188	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.241:0.3094:0.2397:0.2099	0.369	0.00350	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05556	6229.58	903	chr7	101036988	.	G	C	6229.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=5.17;DP=10818;ExcessHet=0.119;FS=0.659;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=54.06;MQRankSum=-2.267;QD=5.96;ReadPosRankSum=-2.22;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101037005	101037005	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.T5589G:p.S1863R	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	.	0.0208	0.0334	0.0332	0.0858	0.0159	0.0015	0.0301	0.0546	7.68e-05	2	26028	rs144965214	0.0002	0.0007	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0026	0.0004	0.0003	0	0.0032	0.0001	0	9e-07	0.0002	0.0021	0.0004	0.0011	0.0004	0.0003	0.0019	0.0003	0.0003	0.0009	0.0006	0.0009	0	0.0002	0	0.0016	0.0002	0	2.947e-05	0.0010	0.0019	0.37	0.11550	T	.	.	.	0.797	0.44809	P	0.321	0.41760	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	4.23	0.02616	T	-0.77	0.21429	N	0.024	0.00445	-0.8886	0.49055	T	0.005	0.01615	T	8	0.0044896007	0.00092	T	.	.	.	0.033	0.08068	0.194	0.10571	.	.	0.01233914984188236	0.01192	.	.	0.299895703793	0.10385	T	0.017757	0.14435	T	-0.682001	0.00047	T	-0.73945	0.03914	T	0.00939915424853505	0.00120	T	0.340266	0.07351	T	0.10370106	0.24512	0.1283763	0.30886	0.10370106	0.24512	0.1283763	0.30885	-7.069	0.54537	T	.	.	0.241	0.47524	B	.	.	0.527789	0.08965	5.746	0.33326692460308971	0.01979	0.01430	0.04814	N	AEFGBI	0.064454	0.12515	N	-1.02251595279122	0.08138	0.3805158	-1.20536102117136	0.05823	0.2785533	0.00121046594272654	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.013000	0.13206	-6.532000	0.01373	0.335000	0.19678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3329.58	903	chr7	101037005	.	T	G	3329.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=6.24;DP=10752;ExcessHet=0.119;FS=3.8;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.78;MQRankSum=-5.007;QD=3.4;ReadPosRankSum=-4.706;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101037012	101037013	AG	0	exonic	MUC17	.	.	.	.	0	197	27	0	2	29	0.064133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7903.84	968	chr7	101037012	.	AG	*	7903.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.538;DP=10953;ExcessHet=2.0135;FS=3.621;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=54.79;MQRankSum=-12.27;QD=1.89;ReadPosRankSum=3.7;SOR=0.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101037014	101037014	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R	.	415	1096	6	3	2	14	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.0449281	0.0050	0.0090	0.0081	0.0244	0.0021	0.0004	0.0056	0.0112	0.008683	226	26028	rs201207919	0.0002	0.0007	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0003	0.0002	0	0.0031	7.959e-05	0	2.751e-06	8.734e-05	0.0020	0.0003	0.0011	0.0003	0.0003	0.0023	0.0002	0.0002	0.0010	0.0007	0.0008	0	0.0002	0	0.0006	0.0002	0	1.813e-05	0.0014	0.0023	0.007	0.59928	D	.	.	.	0.797	0.44809	P	0.093	0.30104	B	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.23	0.02616	T	-0.65	0.18877	N	0.038	0.01203	-0.9674	0.37733	T	0.004	0.01261	T	9	0.0030860305	0.00051	T	.	.	.	0.029	0.06676	0.264	0.20946	0.0297737177859	0.01360	0.005365800952421269	0.00507	.	.	0.329270333052	0.14824	T	0.017645	0.14358	T	-0.684915	0.00045	T	-0.747215	0.03595	T	0.0134149078318583	0.00243	T	0.412159	0.10706	T	0.078873836	0.17988	0.07059529	0.15018	0.078873836	0.17988	0.07059529	0.15018	-5.575	0.42563	T	.	.	0.343	0.56098	A	.	.	-0.584777	0.01613	0.110	0.092152076708719846	0.00089	0.00097	0.00633	N	AEFGBI	0.034789	0.04369	N	-2.08138097362421	0.00141	0.006020611	-2.26102061448563	0.00081	0.003577088	0.993921298330382	0.33413	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-4.764000	0.00219	-3.044000	0.03112	-1.910000	0.00516	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.2707:0.1984:0.3324	0.291	0.00241	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2424.58	955	chr7	101037014	.	C	G	2424.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.9;DP=10804;ExcessHet=0.119;FS=2.868;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=53.62;MQRankSum=-6.634;QD=2.55;ReadPosRankSum=-6.374;SOR=1.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	16	0	2	1
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	9958.67	975	chr7	101037015	.	A	C	9958.67	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=10927;ExcessHet=4.0268;FS=2.575;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.9;MQRankSum=-11.94;QD=1.83;ReadPosRankSum=1.7;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101037015	101037015	A	0	exonic	MUC17	.	.	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9958.67	975	chr7	101037015	.	A	*	9958.67	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=10927;ExcessHet=4.0268;FS=2.575;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.9;MQRankSum=-11.94;QD=1.83;ReadPosRankSum=1.7;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101037018	101037018	G	0	exonic	MUC17	.	.	.	.	0	199	25	0	2	27	0.0591017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	11858.1	981	chr7	101037018	.	G	*	11858.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.738;DP=10925;ExcessHet=4.0268;FS=1.623;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=54.96;MQRankSum=-11.89;QD=2.19;ReadPosRankSum=1.66;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101037032	101037032	A	0	exonic	MUC17	.	.	.	.	418	957	138	0	9	147	0.0672515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6882.03	962	chr7	101037032	.	A	*	6882.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=10795;ExcessHet=2.9153;FS=2.661;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=55.49;MQRankSum=-13.25;QD=1.42;ReadPosRankSum=0.099;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	18	0	1	0
chr7	101038455	101038455	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A7039G:p.T2347A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00224218761591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	.	.	.	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.33	0.66821	M	4.37	0.02277	T	-0.84	0.22944	N	0.055	0.02658	-0.8975	0.48244	T	0.005	0.01761	T	9	0.057038784	0.06488	T	0.002242	0.04260	T	0.021	0.04004	0.174	0.08014	0.0297737177859	0.01360	0.0026299508486992145	0.00243	.	.	0.265688419342	0.05587	T	0.014997	0.12660	T	-0.334112	0.05806	T	-0.717705	0.04907	T	0.103206586207734	0.12705	T	0.288971	0.05229	T	0.053104475	0.10001	0.04780897	0.06966	0.053104475	0.10001	0.04780897	0.06965	-7.473	0.57420	T	.	.	0.119	0.24464	B	.	.	0.073673	0.04813	1.420	0.24931553543660159	0.01126	0.00334	0.01740	N	AEFBI	0.048146	0.08184	N	-1.29484975295129	0.03736	0.1674615	-1.40133152613554	0.03239	0.1506844	1.01368855965604E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.39	-0.857	0.10151	1.408000	0.34277	-2.748000	0.03402	0.542000	0.25261	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4424:0.0:0.5576:0.0	5.109	0.14136	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	9033.14	996	chr7	101038455	.	A	G	9033.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.064;DP=12732;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.79;MQRankSum=0.488;QD=12.09;ReadPosRankSum=0.142;SOR=0.67	GT:AD:DP:GQ:PL	0/0:777,0:777:99:0,120,1800	16	0	1	2
chr7	101038935	101038935	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A7519G:p.I2507V	.	427	1068	26	1	0	28	0.012939	.	.	.	2826036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00097120512408	0.0002	0.000599042	0.0012	0	0.0010	0	0	0.0005	0.0066	0.0058	0.0009961	154	154602	rs200633454	0.0007	0.0007	0.0004	0.0009	0.0068	0.0006	0.0006	0.0056	0.0055	0.0001	0.0005	0	0	1.872e-05	0.0068	0.0003	0.0007	0.0061	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	2.413e-05	0	0.0003	0	0.0002	0	0.0034	0.0004	0.0019	0.0050	0.696	0.04226	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	4.41	0.02196	T	0.11	0.05706	N	0.024	0.00445	-0.9018	0.47803	T	0.004	0.01330	T	9	0.005528629	0.00122	T	9.71E-4	0.01003	T	0.010	0.01040	.	.	0.0138822411134	0.00435	4.890920599988548E-4	0.00044	.	.	0.213471114635	0.00968	T	0.018082	0.14638	T	-0.738436	0.00021	T	-0.831569	0.01235	T	0.0116830370596676	0.00179	T	0.212079	0.02586	T	0.016883628	0.00229	0.024827624	0.00509	0.016883628	0.00229	0.024827624	0.00509	-6.703	0.51833	T	.	.	0.106	0.19720	B	.	.	-0.996361	0.00776	0.025	0.3150820075649714	0.01779	0.00150	0.00907	N	AEFDGBI	0.029642	0.02836	N	-1.33509676875869	0.03282	0.1463393	-1.40984951827488	0.03153	0.1465084	4.06644817988526E-4	0.06860	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.953	-0.0922	0.12993	-1.948000	0.01624	-0.460000	0.09044	-1.182000	0.01385	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.0:0.757:0.0	5.144	0.14304	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004757	0.000000	0.008152	0.000000	0.050000	0.000000	0.003049	0.003788	0.02632	8952.33	957	chr7	101038935	.	A	G	8952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.306;DP=7292;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1.93;QD=12.81;ReadPosRankSum=-0.331;SOR=0.701	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr7	101039550	101039550	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8134G:p.L2712V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000781276601277	.	.	0.0030	0.0083	0.0006	0.0003	0.0005	0.0021	0.0046	0.0073	0.0001921	5	26028	rs34223735	0.0001	0.0043	0.0001	9.773e-05	0.0004	8.755e-05	8.202e-05	0.0002	0.0001	0.0003	0.0003	0.0004	0	8.064e-05	0.0004	7.913e-05	0.0001	0.0002	0.0003	0.0042	0.0003	0.0003	0.0008	0.0003	0.0002	0.0005	0.0005	0.0008	0	0.0002	0.0006	0	0.0002	0	0.0002	0	0.0005	0.815	0.02997	T	.	.	.	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.24	0.63355	M	3.72	0.04014	T	-0.03	0.07444	N	0.025	0.00485	-0.8996	0.48034	T	0.008	0.02638	T	9	0.0071575046	0.00163	T	7.81E-4	0.00588	T	0.016	0.02506	.	.	0.0297737177859	0.01360	2.0119481350893312E-4	0.00018	.	.	0.265403211117	0.05551	T	0.017487	0.14257	T	-0.647203	0.00075	T	-0.818008	0.01493	T	0.0070488288473037	0.00080	T	0.450755	0.12737	T	0.024162995	0.01221	0.026087591	0.00681	0.024162995	0.01220	0.026087591	0.00681	-6.702	0.51825	T	.	.	0.076	0.05979	B	.	.	-0.826475	0.01056	0.045	0.18895823547176302	0.00614	0.00051	0.00397	N	AEFBI	0.027221	0.02186	N	-1.34471005500907	0.03180	0.1416276	-1.44487053766457	0.02817	0.1302663	9.78263166577098E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	-4.229000	0.00307	-7.510000	0.01142	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	2.0E-4:0.5059:0.4937:2.0E-4	3.650	0.07736	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041226	0.075758	0.027174	0.040984	0.050000	0.034483	0.048780	0.041667	0.02632	60.33	913	chr7	101039550	.	C	G	60.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.536;DP=6311;ExcessHet=0;FS=2.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-5.719;QD=0.08;ReadPosRankSum=-7.799;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1575:.	18	0	1	0
chr7	101039562	101039562	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8146G:p.P2716A	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	.	0.0137	0.0394	0.0049	0.0026	0.0104	0.0116	0.0190	0.0220	0.0105044	1624	154602	rs34924040	0.0007	0.0081	0.0007	0.0007	0.0024	0.0007	0.0006	0.0019	0.0017	0.0024	0.0009	0.0017	0.0002	0.0006	0.0021	0.0006	0.0008	0.0016	0.0012	0.0064	0.0011	0.0012	0.0024	0.0010	0.0009	0.0019	0.0018	0.0024	0	0.0009	0.0013	0.0004	0.0007	0	0.0007	0.0017	0.0010	0.248	0.17239	T	.	.	.	0.103	0.25884	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.69	0.43327	L	4.48	0.02067	T	-0.19	0.09965	N	0.014	0.00160	-0.9124	0.46556	T	0.004	0.01226	T	9	0.0053680837	0.00118	T	.	.	.	0.012	0.01476	.	.	.	.	4.351784600750031E-4	0.00039	.	.	0.237647771835	0.02582	T	0.018404	0.14841	T	-0.6758	0.00051	T	-0.745938	0.03646	T	0.00451004422584081	0.00048	T	0.514149	0.16548	T	0.018670741	0.00389	0.02857356	0.01105	0.018670741	0.00389	0.02857356	0.01105	-7.397	0.56883	T	.	.	0.064	0.01692	B	.	.	-1.510381	0.00289	0.005	0.84204015189437531	0.15156	0.00288	0.01547	N	AEFBI	0.044115	0.07058	N	-1.49164389999368	0.01908	0.08375649	-1.58357412614577	0.01756	0.07985968	1.10617532699769E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.21	-1.03	0.09586	-6.730000	0.00069	-20.000000	0.00162	-3.356000	0.00093	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5746:0.2449:0.1805	4.008	0.09100	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	193.14	913	chr7	101039562	.	C	G	193.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.199;DP=6824;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.63;MQRankSum=-4.215;QD=0.24;ReadPosRankSum=-7.162;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1575:.	16	0	1	2
chr7	101041723	101041723	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10307G:p.A3436G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00117443237866	.	.	6.59e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs774773933	2.942e-05	2.941e-05	1.225e-05	4.675e-05	0.0004	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0	7.194e-06	1.656e-05	0.0004	6.582e-06	6.57e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	.	.	.	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.445	0.36358	L	4.5	0.02032	T	-1.29	0.32387	N	0.051	0.02272	-0.9112	0.46707	T	0.008	0.02679	T	9	0.06549829	0.08844	T	0.001174	0.01484	T	0.036	0.09122	0.149	0.05238	0.0401082797425	0.02173	0.004952697460590949	0.00467	.	.	0.175836771727	0.00062	T	0.017082	0.13999	T	-0.592068	0.00163	T	-0.783693	0.02344	T	0.127640068531036	0.15162	T	0.262774	0.04248	T	0.037444927	0.04802	0.05649467	0.10106	0.037444927	0.04801	0.05649467	0.10105	-6.615	0.51168	T	.	.	0.112	0.22024	B	.	.	-0.064066	0.03861	0.835	0.69467673058596502	0.08982	0.04635	0.10302	N	AEFBCI	0.060015	0.11376	N	-0.87640674262001	0.11406	0.5502366	-1.13147726805138	0.07105	0.3443713	1.88197497070138E-4	0.05844	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-1.555000	0.02274	-8.141000	0.01021	-4.619000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4241:0.5759:0.0:0.0	6.443	0.21060	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	8891.33	37	chr7	101041723	.	C	G	8891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1810;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.424;SOR=0.692	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr7	101048107	101048107	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.T12527G:p.I4176S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.008665371357	.	.	1.698e-05	0	0	0	0	3.047e-05	0	0	1.29e-05	2	154602	rs777254345	6.914e-07	6.84e-07	1.375e-06	0	9.048e-07	0	0	.	.	0	0	0	0	0	0	9.048e-07	0	0	6.578e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	.	.	.	0.985	0.61118	D	0.484	0.47189	P	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.41	0.02196	T	-1.58	0.38151	N	0.261	0.29544	-0.8765	0.50036	T	0.007	0.02598	T	9	0.16927591	0.31526	T	0.008665	0.22878	T	0.164	0.42212	0.569	0.69167	0.21279746466	0.20884	0.6669170699766578	0.66629	.	.	0.407433569431	0.26101	T	0.018705	0.15030	T	-0.154381	0.27627	T	-0.459534	0.26650	T	0.202498898545005	0.20553	T	0.385961	0.09480	T	0.22884224	0.45610	0.2054505	0.44715	0.22884224	0.45610	0.2054505	0.44714	-6.84	0.52856	T	.	.	0.637	0.70398	P	.	.	1.084761	0.14682	11.23	0.55319986607899896	0.05318	0.06222	0.12210	N	AEFDBI	0.069167	0.13678	N	-0.342073193796157	0.27564	1.513343	-0.462286256685823	0.23200	1.264033	0.00980575526567815	0.11916	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.97	3.97	0.45241	1.954000	0.39987	2.294000	0.31976	0.665000	0.62972	0.073000	0.22155	0.512000	0.25262	0.001000	0.02609	0.0:0.0:0.0:1.0	9.386	0.37507	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1762.33	36	chr7	101048107	.	T	G	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.188;DP=770;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.76;ReadPosRankSum=1.72;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1471:.	18	0	1	0
chr7	101087787	101087787	G	A	exonic	TRIM56	.	nonsynonymous SNV	TRIM56:NM_030961:exon3:c.G475A:p.E159K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00319489	0.0022	0	0.0003	0	0	0	0	0.0160	0.0017141	265	154602	rs544312602	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	2.992e-05	2.252e-05	0	0	2.037e-05	0.0005	2.522e-05	0.0006	0.0150	0.0005	0.0005	0.0003	0.0007	0.0141	0.0004	0.0003	0.0114	0.0104	2.405e-05	0	0	0	0	9.414e-05	0	1.47e-05	0	0.0141	0.456	0.11120	T	0.039	0.53788	D	0.982	0.60036	D	0.833	0.59784	P	0.000367	0.45194	D	0.000000	0.677885	0.33205	D	1.24	0.30952	L	0.94	0.43672	T	-0.85	0.23156	N	0.208	0.23125	-0.9607	0.39050	T	0.128	0.43605	T	10	0.006583363	0.00149	T	.	.	.	0.134	0.36365	0.509	0.60540	0.627281675597	0.62424	0.5868970590110585	0.58619	0.584107567837	0.54097	0.759843230247	0.75906	T	0.026185	0.19430	T	-0.448698	0.01150	T	-0.405624	0.32732	T	0.0545004114117736	0.06274	T	0.845015	0.52334	T	0.13506266	0.31359	0.1047704	0.25171	0.13506266	0.31359	0.1047704	0.25170	-6.076	0.46911	T	.	.	0.202	0.42635	B	.;.	.;.	3.917986	0.57180	23.8	0.99826944665335626	0.90939	0.59625	0.30967	D	AEFDBCI	0.180564	0.30787	N	0.170274365926628	0.49775	3.17421	0.167346684437956	0.48069	3.027865	0.999999958598592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.549297	0.17558	0	.	.	3.99	3.99	0.45527	4.123000	0.57668	8.759000	0.78228	0.676000	0.76740	0.831000	0.30147	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	11.893	0.51922	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	781.33	36	chr7	101087787	.	G	A	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.01;DP=671;ExcessHet=0;FS=1.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.76;SOR=0.444	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1310	18	0	1	0
chr7	101133833	101133833	A	G	exonic	SERPINE1	.	nonsynonymous SNV	SERPINE1:NM_000602:exon5:c.A839G:p.Q280R	Plasminogen activator inhibitor-1 deficiency, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0298167957952	.	0.000399361	0.0001	0	0	0	0	1.499e-05	0	0.0010	0.0001229	19	154602	rs543475314	6.225e-05	6.225e-05	3.947e-05	8.525e-05	0.0008	5.161e-05	4.78e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	2.519e-05	0	0.0002	1.349e-05	4.967e-05	0.0008	4.597e-05	4.593e-05	5.141e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.406e-05	0	6.54e-05	0	0	0	0	0	0	0.0010	0.07	0.35349	T	0.097	0.39190	T	0.122	0.26746	B	0.166	0.35067	B	0.074176	0.21301	N	0.502752	0.957907	0.26244	N	1.32	0.33002	L	-1.83	0.84122	D	-0.98	0.25986	N	0.107	0.09207	-0.4560	0.70201	T	0.437	0.77638	T	10	0.033171296	0.01486	T	0.029817	0.52254	D	0.246	0.55340	.	.	0.918063994107	0.91724	0.4714547112127315	0.47064	0.250606575556	0.27630	0.367015331984	0.20402	T	0.212541	0.57361	T	-0.296538	0.08990	T	-0.263488	0.48475	T	0.118684321641922	0.14301	T	0.673733	0.28234	T	0.18870863	0.40382	0.21919367	0.46650	0.18870863	0.40381	0.21919367	0.46649	-4.006	0.23893	T	.	.	0.098	0.16363	B	.	.	2.904944	0.38512	20.8	0.99421388646361653	0.63790	0.85909	0.45098	D	AEFDBHCIJ	0.589024	0.58606	D	-0.123864837024399	0.36354	2.100293	0.0206946572483972	0.40677	2.431441	0.999999999217002	0.74766	0.740787	0.97801	0	0.627178	0.54094	0	0.767554	0.98243	0	0.657601	0.63696	0	.	.	5.77	4.61	0.56724	4.153000	0.57895	6.881000	0.56814	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.9209:0.0:0.0791:0.0	10.108	0.41719	861	0.33516	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr7	101133833	.	A	G	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.323;DP=844;ExcessHet=0;FS=7.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.204;SOR=1.234	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr7	101163119	101163139	GTGGCGCGAAGGCGGCAAGGC	-	exonic	VGF	.	nonframeshift deletion	VGF:NM_003378:exon2:c.1705_1725del:p.A569_H575del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.748e-05	0	9.205e-05	0	0	1.727e-05	0	0.0002	3.84e-05	1	26028	rs750790296	2.728e-05	2.805e-05	2.088e-05	3.376e-05	0.0004	2.043e-05	1.794e-05	0.0001	9.798e-05	3.369e-05	0	0	0	0	0.0004	1.274e-05	0.0001	0.0002	3.301e-05	3.286e-05	5.165e-05	1.351e-05	0.0002	1.265e-05	8.01e-06	1.176e-05	6.26e-06	0	0.0011	0	0	0	0	0	4.429e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1436.29	41	chr7	101163118	.	AGTGGCGCGAAGGCGGCAAGGC	A	1436.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.293;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,888	18	0	1	0
chr7	101172378	101172378	G	A	exonic	NAT16	.	nonsynonymous SNV	NAT16:NM_001369695:exon4:c.C811T:p.R271C,NAT16:NM_198571:exon4:c.C811T:p.R271C,NAT16:NM_001369694:exon5:c.C811T:p.R271C	.	433	1086	1	0	2	3	0.000460193	.	.	.	2241907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0118895629892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.057	0.46406	T	0.999	0.77913	D	0.8	0.58175	P	0.985417	0.08066	N	0.990854	0.962766	0.26053	N	1.1	0.28011	L	0.89	0.45636	T	-1.45	0.35597	N	0.172	0.21319	-0.9628	0.38645	T	0.126	0.43215	T	10	0.15018845	0.28412	T	0.01189	0.29959	T	0.104	0.29647	0.403	0.43408	0.219573609325	0.21563	0.26719325358123325	0.26632	0.680249482068	0.59982	0.703217387199	0.67609	T	0.009583	0.08721	T	-0.21422	0.18789	T	-0.545488	0.17760	T	0.52656882041795	0.33607	D	0.640736	0.25328	T	0.14818697	0.33841	0.12043583	0.29065	0.14818697	0.33841	0.12043583	0.29064	-4.935	0.36126	T	.	.	0.195	0.41648	B	.;.	.;.	2.818433	0.37125	20.4	0.9980529132685162	0.88995	0.06542	0.12554	N	AEFDGBHCI	0.158000	0.28359	N	-0.242390609241757	0.31407	1.760814	-0.385213074971288	0.25437	1.398861	0.999968664982983	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.56	0.689	0.17197	-0.985000	0.03861	0.000000	0.13247	0.590000	0.31872	0.000000	0.06391	0.978000	0.30204	0.988000	0.63387	0.2684:0.0:0.7316:0.0	6.546	0.21601	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1223.33	41	chr7	101172378	.	G	A	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=836;ExcessHet=0;FS=4.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.829;SOR=0.811	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr7	101174661	101174661	C	G	exonic	NAT16	.	nonsynonymous SNV	NAT16:NM_001369695:exon2:c.G147C:p.E49D,NAT16:NM_198571:exon2:c.G147C:p.E49D,NAT16:NM_001369694:exon3:c.G147C:p.E49D	.	423	1098	1	0	0	1	0.000455166	.	.	.	3983369	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0068477830049	.	.	2.479e-05	0	0	0	0	3.008e-05	0	6.061e-05	1.94e-05	3	154602	rs777517613	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	6.956e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.102	0.40832	T	0.148	0.38160	T	0.939	0.52645	P	0.402	0.44547	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.65	0.52867	T	-0.02	0.13035	N	0.076	0.05037	-1.0995	0.04152	T	0.066	0.27330	T	9	0.078008205	0.12382	T	0.006848	0.18121	T	0.065	0.18881	0.153	0.05648	0.0551355673512	0.04727	0.10286581286436608	0.10216	0.518235957225	0.49690	0.371187984943	0.21002	T	0.007227	0.06645	T	-0.304976	0.08199	T	-0.578999	0.14634	T	0.0486942332229296	0.05268	T	0.418758	0.11799	T	0.07372067	0.16494	0.120854646	0.29163	0.07372067	0.16494	0.120854646	0.29162	-4.788	0.34452	T	.	.	0.132	0.36614	B	.;.;.;.	.;.;.;.	1.230972	0.16258	12.42	0.97033914021010459	0.32080	0.02869	0.07640	N	AEFDGBHCI	0.041965	0.06451	N	-0.616570484240209	0.18446	0.9577455	-0.693357154480817	0.17126	0.9092492	0.999997474710134	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	3.6	2.6	0.30173	-0.320000	0.08070	1.371000	0.25957	0.309000	0.19094	0.001000	0.13787	0.941000	0.28781	0.067000	0.16453	0.0:0.8551:0.0:0.1449	7.794	0.28302	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	730.33	33	chr7	101174661	.	C	G	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.443;DP=748;ExcessHet=0;FS=6.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.775;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1089	18	0	1	0
chr7	101200838	101200838	G	A	exonic	MOGAT3	.	nonsynonymous SNV	MOGAT3:NM_001287147:exon1:c.C17T:p.T6I,MOGAT3:NM_178176:exon1:c.C17T:p.T6I	.	428	1088	5	1	0	7	0.0032066	.	.	.	2352661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00561972782358	0.0003	0.000199681	0.0002	0	0	0	0	0.0004	0.0012	6.655e-05	0.0002005	31	154602	rs141091754	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	2.988e-05	2.239e-05	0	0	0	0.0009	0.0003	0.0003	2.321e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0	0	0.0002	0	0	0.0004	0.0005	0	0.076	0.61437	T	0.154	0.33780	T	0.001	0.17786	B	0.003	0.12133	B	0.000273	0.00546	U	4.684840	1	0.08975	N	0	0.06538	N	2.56	0.29085	T	-0.33	0.12661	N	0.118	0.10769	-1.0384	0.17802	T	0.043	0.18701	T	10	0.02369669	0.00628	T	0.00562	0.14530	T	0.016	0.02506	.	.	0.186928172975	0.18263	0.3548649470518873	0.35400	0.181768185233	0.20427	0.309369117022	0.11811	T	0.006579	0.06008	T	-0.502111	0.00556	T	-0.62696	0.10647	T	0.0127830405739977	0.00217	T	0.362364	0.08382	T	0.06549659	0.14004	0.057269488	0.10380	0.06549659	0.14004	0.057269488	0.10380	-4.733	0.36115	T	.	.	0.102	0.32780	B	.;.;.	.;.;.	1.015408	0.13947	10.51	0.81220998283458468	0.13579	0.24420	0.22388	N	AEFDBHCI	0.072130	0.14384	N	-1.05322224760652	0.07524	0.3498278	-1.06105756649692	0.08477	0.4170373	0.999999239229422	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	3.81	1.8	0.24069	0.022000	0.13402	-0.896000	0.07009	0.659000	0.54702	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2794:0.0:0.7206:0.0	5.758	0.17453	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	888.33	33	chr7	101200838	.	G	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.529;DP=686;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.057;SOR=0.346	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	18	0	1	0
chr7	101210137	101210137	C	T	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon15:c.G1639A:p.E547K	Lysyl hydroxylase 3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0343344740907	.	.	3.173e-05	0	0	0.0002	0	0	0	9.513e-05	1.94e-05	3	154602	rs557730054	8.245e-06	8.209e-06	1.093e-05	5.53e-06	0.0002	4.4e-06	3.47e-06	4.928e-05	3.179e-05	0	0	0	0.0001	0	0.0002	2.705e-06	1.663e-05	2.352e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.64	0.05002	T	0.173	0.30143	T	0.184	0.29209	B	0.023	0.19966	B	0.000962	0.40836	D	0.157726	0.971873	0.38903	D	1.79	0.46772	L	-1.8	0.83893	D	-1.09	0.28290	N	0.339	0.38027	-0.3168	0.74511	T	0.407	0.75635	T	10	0.2069689	0.36976	T	0.034334	0.55607	D	0.372	0.69102	0.419	0.46036	0.884155090706	0.88301	0.6769475058907666	0.67633	0.155923579576	0.17597	0.666646182537	0.62359	T	0.269341	0.64153	T	-0.143067	0.29403	T	-0.173982	0.57079	T	0.17371000149946	0.18829	T	0.819518	0.47762	T	0.16991344	0.37535	0.103196494	0.24755	0.16991344	0.37535	0.103196494	0.24754	-6.775	0.52373	T	0.15105447194695118	0.17792	0.073	0.04847	B	.	.	3.152801	0.42685	21.6	0.99736854242939288	0.83192	0.94092	0.60088	D	AEFDBI	0.314451	0.41931	N	-0.0349648210324888	0.40275	2.389149	0.066438603771538	0.42874	2.600969	0.0326179359667938	0.14063	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	3.76	0.42368	1.712000	0.37560	2.552000	0.33269	0.524000	0.24156	0.845000	0.30364	0.990000	0.31317	0.709000	0.34421	0.0:0.7936:0.2063:0.0	9.989	0.41030	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	687.33	36	chr7	101210137	.	C	T	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=694;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.718;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	18	0	1	0
chr7	101211934	101211934	C	G	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon11:c.G1144C:p.D382H	Lysyl hydroxylase 3 deficiency, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	433853	not_provided|Bone_fragility_with_contractures,_arterial_rupture,_and_deafness	MedGen:C3661900|MONDO:MONDO:0012892,MedGen:C2676285,OMIM:612394,Orphanet:300284	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.235	.	0.0066	0.00279553	0.0087	0.0023	0.0038	0.0002	0.0047	0.0136	0.0018	0.0022	0.0057632	891	154602	rs41281013	0.0074	0.0074	0.0074	0.0074	0.0143	0.0073	0.0072	0.0118	0.0109	0.0013	0.0028	0.0149	0	0.0023	0.0143	0.0085	0.0078	0.0016	0.0057	0.0057	0.0062	0.0052	0.0096	0.0054	0.0053	0.0090	0.0087	0.0015	0.0297	0.0031	0.0121	0.0002	0.0012	0.0136	0.0096	0.0047	0.0017	0.098	0.30800	T	0.108	0.37589	T	0.947	0.53479	P	0.792	0.57793	P	0.001964	0.37549	N	0.224065	0.988164	0.40715	D	2.615	0.76484	M	-1.92	0.84773	D	-4.89	0.81431	D	0.742	0.74189	-0.5423	0.67077	T	0.265	0.63588	T	10	0.016706944	0.00353	T	.	.	.	0.649	0.86736	.	.	0.929090372969	0.92836	0.7426255628462778	0.74208	0.159084507168	0.17954	0.460625231266	0.33396	T	0.670791	0.90226	D	-0.138265	0.30166	T	0.0380109	0.72797	D	0.0596420814324994	0.07112	T	0.956104	0.83363	D	0.33327624	0.55738	0.23196249	0.48343	0.33327624	0.55738	0.23196249	0.48342	-7.593	0.58262	D	0.4410743163804797	0.52655	0.264	0.49855	B	.	.	4.357200	0.66971	25.0	0.99261600676526895	0.57222	0.97871	0.77756	D	AEFDBI	0.868609	0.78880	D	0.168160126062719	0.49673	3.165218	0.139121897844024	0.46569	2.900734	0.994478578734434	0.33653	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.26	3.36	0.37579	4.939000	0.63227	5.864000	0.50463	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.0:0.887:0.0:0.113	9.093	0.35784	878	0.29785	.	RP11-132A1.6|GNB2|GNB2	Pituitary|Small_Intestine_Terminal_Ileum|Spleen	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023858	0.015464	0.021798	0.052632	0.055556	0.008621	0.025000	0.000000	0.02632	980.33	43	chr7	101211934	.	C	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=724;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.053;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	18	0	1	0
chr7	101222766	101222766	C	T	exonic	ZNHIT1	.	nonsynonymous SNV	ZNHIT1:NM_006349:exon2:c.C185T:p.A62V	.	420	1095	6	1	0	8	0.00363967	.	.	.	2700994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00845713212277	7.7e-05	.	1.668e-05	0	0	0	0	1.52e-05	0.0011	0	1.29e-05	2	154602	rs372877953	1.985e-05	2.052e-05	1.907e-05	2.063e-05	0.0005	1.392e-05	1.204e-05	0.0001	7.55e-05	0	0	0	0	0	0.0005	2.069e-05	4.969e-05	0	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.298	0.14595	T	0.285	0.21343	T	0.203	0.29776	B	0.018	0.18489	B	0.001339	0.39379	N	0.249000	0.963707	0.38364	D	0.6	0.15550	N	.	.	.	-0.21	0.10308	N	0.274	0.31027	-0.9714	0.36904	T	0.118	0.41582	T	9	0.10276523	0.18854	T	0.008457	0.22382	T	0.039	0.10176	.	.	0.107399877778	0.10242	0.2789264228225922	0.27805	0.430058633402	0.43270	0.663012504578	0.61840	T	0.023471	0.17908	T	-0.278442	0.10833	T	-0.457443	0.26879	T	0.128225421227765	0.15216	T	0.869413	0.57379	D	0.088201754	0.20567	0.075029634	0.16476	0.088201754	0.20567	0.075029634	0.16476	-3.868	0.21824	T	.	.	0.091	0.13315	B	.	.	3.166788	0.42928	21.6	0.9890288993189752	0.48217	0.86249	0.45493	D	AEFBI	0.724554	0.67382	D	-0.132265497567216	0.35992	2.074536	0.0417993441060929	0.41677	2.507927	0.97926345411698	0.30009	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	2.705000	0.46795	7.602000	0.61596	0.513000	0.23382	0.946000	0.32893	1.000000	0.68203	0.196000	0.21779	0.0:1.0:0.0:0.0	16.122	0.81175	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1040.33	33	chr7	101222766	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.601;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1436	18	0	1	0
chr7	102248627	102248627	G	A	exonic	CUX1	.	nonsynonymous SNV	CUX1:NM_001202543:exon24:c.G4136A:p.R1379Q,CUX1:NM_181552:exon24:c.G4103A:p.R1368Q	.	436	1055	28	3	0	34	0.0158582	.	.	.	1687632	not_provided|CUX1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	.	0.00259585	0.0096	0	0.0192	0	.	0.0091	0	0.0103	0.0006339	98	154602	rs553811765	0.0013	0.0012	0.0011	0.0014	0.0085	0.0012	0.0012	0.0079	0.0077	4.118e-05	0.0014	0.0059	3.916e-05	0.0004	0.0063	0.0007	0.0017	0.0085	0.0012	0.0013	0.0011	0.0014	0.0116	0.0011	0.0010	0.0092	0.0083	0.0002	0	0.0010	0.0061	0.0004	0.0007	0.0034	0.0011	0.0019	0.0116	0.64	0.05002	T	0.537	0.11371	T	0.0	0.02946	B	0.001	0.04355	B	0.604540	0.10925	N	0.737577	1	0.81001	D	0.255	0.09829	N	0.27	0.59176	T	0.45	0.04091	N	0.049	0.06190	-1.0046	0.28577	T	0.072	0.29355	T	10	0.0047064126	0.00099	T	.	.	.	0.056	0.15993	.	.	0.0675242888579	0.06100	0.11060020420240743	0.10989	1.41167626659	0.85466	0.64443308115	0.59194	T	0.280213	0.65291	T	-0.59438	0.00158	T	-0.619881	0.11194	T	0.0230915590920169	0.01035	T	0.773323	0.40460	T	0.03736673	0.04777	0.06377	0.12681	0.03736673	0.04777	0.06377	0.12681	-3.864	0.21824	T	.	.	0.086	0.10787	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.270795	0.29022	17.99	0.95901557216006228	0.28131	0.22471	0.21757	N	AEFDBCI	0.060446	0.11489	N	-0.905654508358822	0.10709	0.5130694	-0.863351331000008	0.12966	0.6700742	0.999949383613064	0.47345	0.580535	0.33130	0	0.601575	0.49859	0	0.687007	0.62461	0	0.604944	0.38103	0	.	.	2.94	-1.76	0.07574	1.846000	0.38929	1.434000	0.26471	0.484000	0.22197	0.668000	0.28331	0.998000	0.33993	0.637000	0.32341	0.2901:0.1512:0.4053:0.1534	1.259	0.01877	759	0.50631	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006055	0.000000	0.006410	0.000000	0.000000	0.015152	0.014423	0.013333	0.02632	76.86	21	chr7	102248627	.	G	A	76.86	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=316;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=-0.789;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,904	18	0	1	0
chr7	102457510	102457510	G	A	exonic	ALKBH4	.	nonsynonymous SNV	ALKBH4:NM_017621:exon3:c.C793T:p.R265C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.400865406669	.	.	8.536e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777325120	5.476e-06	7.524e-06	5.449e-06	5.504e-06	2.519e-05	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	2.236e-05	0	2.519e-05	1.907e-05	0	4.497e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.054281	1	0.81001	D	3.955	0.96476	H	0.27	0.59176	T	-7.83	0.96005	D	0.837	0.83269	0.331	0.88048	D	0.525	0.82317	D	10	0.96069115	0.95475	D	0.400865	0.93394	D	0.549	0.81310	0.83	0.93978	0.792557392472	0.79062	0.9701312184035664	0.97002	1.04884532575	0.76074	0.68859821558	0.65505	T	0.571633	0.85826	D	0.0835755	0.62457	D	0.0514022	0.73676	D	0.999687433242798	0.98483	D	0.960404	0.85096	D	0.82049596	0.85253	0.6488762	0.79462	0.82049596	0.85254	0.6488762	0.79463	-15.751	0.97364	D	.	.	0.739	0.74604	P	.	.	5.297965	0.88949	29.8	0.99920198769631585	0.98721	0.89695	0.50325	D	AEFGBCI	0.719989	0.67070	D	0.843149620991791	0.88714	9.683562	0.737440206283289	0.85217	8.514809	0.999991148905701	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.08	5.08	0.68373	3.754000	0.54903	11.793000	0.96431	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.387000	0.26492	0.0:0.0:1.0:0.0	17.470	0.87538	534	0.73357	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1378.33	33	chr7	102457510	.	G	A	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=749;ExcessHet=0;FS=2.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.46;SOR=0.446	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q,LRWD1:NM_152892:exon5:c.G578A:p.R193Q	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001665	0.005435	0.000000	0.000000	0.000000	0.010000	0.000000	0.004167	0.02632	890.33	45	chr7	102467723	.	G	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.486;SOR=0.614	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr7	102491021	102491021	C	T	exonic	RASA4B	.	nonsynonymous SNV	RASA4B:NM_001367767:exon17:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00527601418239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294480397	1.327e-05	1.789e-05	1.394e-05	1.267e-05	7.337e-05	5.77e-06	3.13e-06	6.31e-06	3.86e-06	7.337e-05	0	0	0	0	0	1.815e-05	0	0	3.618e-05	5.306e-05	4.171e-05	3.017e-05	5.085e-05	1.358e-05	8.68e-06	8.43e-06	3.15e-06	5.085e-05	0	0	0.0003	0	0	0	3.195e-05	0	0	0.667	0.05341	T	0.626	0.07292	T	0.002	0.09854	B	0.002	0.06944	B	0.531314	0.11635	N	0.764943	1	0.19925	N	0.35	0.11930	N	1.42	0.33189	T	0.05	0.06488	N	0.052	0.02366	-0.9983	0.30395	T	0.041	0.17700	T	10	0.027993023	0.00937	T	0.005276	0.13464	T	0.008	0.00669	0.271	0.22052	0.043077524339	0.03247	.	.	.	.	.	.	.	0.065898	0.32806	T	-0.508628	0.00511	T	-0.742684	0.03778	T	0.0298783260347119	0.01971	T	0.671533	0.28021	T	0.05093525	0.09278	0.055632368	0.09793	0.05093525	0.09277	0.055632368	0.09793	-5.4	0.40919	T	.	.	0.065	0.02118	B	.;.	.;.	1.187824	0.15789	12.10	0.7696749115508692	0.11682	0.11737	0.16829	N	AEFDGI	0.108111	0.21518	N	-1.02259834273713	0.08135	0.3804352	-1.02134805401309	0.09316	0.4628045	0.010974326231979	0.12111	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.38	2.57	0.29928	0.154000	0.16160	-0.492000	0.08854	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.0:0.7171:0.0:0.2829	7.185	0.24971	514	0.74853	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|RASA4, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|RASA4, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	42.33	10	chr7	102491021	.	C	T	42.33	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.83;DP=103;ExcessHet=0;FS=0;InbreedingCoeff=-0.0643;MLEAC=1;MLEAF=0.028;MQ=32.49;MQRankSum=0;QD=7.05;ReadPosRankSum=-0.842;SOR=0.307	GT:AD:DP:GQ:PL	./.:.:.:.:.	17	0	1	1
chr7	102496932	102496932	C	T	exonic	RASA4B	.	nonsynonymous SNV	RASA4B:NM_001277335:exon9:c.G770A:p.R257Q,RASA4B:NM_001367767:exon9:c.G770A:p.R257Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	.	0.0058	0.0329	0.0119	0	0	0	0	0	7.68e-05	2	26028	rs754196581	0.0004	0.0008	0.0004	0.0004	0.0118	0.0004	0.0003	0.0108	0.0104	0.0118	0.0009	0	0	0	0.0013	3.44e-05	0.0009	0.0004	0.0049	0.0081	0.0049	0.0049	0.0169	0.0046	0.0045	0.0159	0.0154	0.0169	0	0.0022	0	0	0	0.0035	5.972e-05	0.0024	0.0002	0.227	0.18498	T	0.046	0.49663	D	0.36	0.33860	B	0.051	0.36167	B	0.003531	0.34820	N	0.180989	0.968626	0.39712	D	1.98	0.53716	M	0.08	0.69896	T	-2.2	0.52289	N	0.256	0.30800	-0.7590	0.57460	T	0.197	0.55215	T	10	0.008849412	0.00200	T	.	.	.	0.104	0.29647	.	.	0.278932316844	0.27492	0.232338255826325	0.23148	2.13339230401	0.95189	.	.	.	0.021179	0.16539	T	-0.0808821	0.39571	T	-0.353958	0.38750	T	0.0458320752604808	0.04753	T	0.880912	0.59977	D	0.20937559	0.43203	0.12425497	0.29951	0.20937559	0.43202	0.12425497	0.29951	-7.705	0.59042	D	.	.	0.071	0.08997	B	.;.;.	.;.;.	4.340717	0.66595	25.0	0.99841467212293811	0.92229	0.96568	0.69792	D	AEFI	0.693347	0.65271	D	-0.0644218250842672	0.38962	2.29004	0.018402050194129	0.40570	2.423299	0.0289455304205575	0.13860	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.57	2.67	0.30756	3.042000	0.49504	1.741000	0.28400	0.484000	0.22197	1.000000	0.71638	0.997000	0.33255	0.950000	0.49671	0.0:0.8918:0.0:0.1082	10.330	0.43000	513	0.74941	Ras GTPase-activating domain;Ras GTPase-activating domain;Ras GTPase-activating domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	695.33	36	chr7	102496932	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=779;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.46;MQRankSum=1.52;QD=6.44;ReadPosRankSum=1.73;SOR=0.997	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	635.49	33	chr7	102934282	.	G	C	635.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.875;DP=1880;ExcessHet=0.7564;FS=169.914;InbreedingCoeff=-0.1189;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.672;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,108,1620:.	15	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:135,26:161:20:.:.:0,20,3295:.	10	0	8	1
chr7	102934571	102934571	T	A	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.T658A:p.L220M,LRRC17:NM_005824:exon2:c.T658A:p.L220M	.	430	1060	30	2	0	34	0.0157846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0205330549804	0.0046	0.00139776	0.0047	0.0021	0.0042	0	0.0044	0.0063	0.0089	0.0023	0.0044178	683	154602	rs36040681	0.0040	0.0040	0.0039	0.0041	0.0210	0.0039	0.0039	0.0179	0.0168	0.0019	0.0050	0.0265	0	0.0031	0.0210	0.0036	0.0071	0.0021	0.0043	0.0043	0.0043	0.0043	0.0049	0.0040	0.0039	0.0040	0.0038	0.0023	0.0022	0.0049	0.0317	0.0002	0.0036	0.0102	0.0043	0.0080	0.0027	0.032	0.46129	D	0.05	0.48080	T	0.257	0.33512	B	0.143	0.36295	B	0.627179	0.10722	N	0.753644	1	0.08975	N	1.79	0.46772	L	0.09	0.63911	T	-0.31	0.12099	N	0.291	0.32921	-0.9874	0.33249	T	0.091	0.34847	T	10	0.0042235553	0.00084	T	0.020533	0.43144	T	0.073	0.21317	.	.	0.353974658523	0.35008	0.2819359309231691	0.28106	0.331437822524	0.35218	0.276401311159	0.06996	T	0.033263	0.22839	T	-0.46394	0.00929	T	-0.429799	0.29957	T	0.0145937820321721	0.00300	T	0.613939	0.24114	T	0.089716	0.20969	0.06520197	0.13181	0.089716	0.20969	0.06520197	0.13181	-4.612	0.32322	T	.	.	0.074	0.08129	B	.;.	.;.	0.376272	0.07484	4.124	0.95126299566557715	0.26230	0.04616	0.10276	N	AEFDBI	0.164558	0.29096	N	-1.24876555415695	0.04316	0.1945527	-1.3501848080759	0.03804	0.1781696	0.999999995568789	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.640751	0.46059	0	0.631631	0.49550	0	.	.	5.28	-8.74	0.00725	-1.001000	0.03800	-4.773000	0.01992	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.932000	0.46971	0.0:0.6661:0.167:0.1669	14.132	0.64796	455	0.79073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031722	0.035354	0.042120	0.035088	0.050000	0.034483	0.015244	0.011364	0.02632	1595.33	39	chr7	102934571	.	T	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-2.058;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1609,0,1632	18	0	1	0
chr7	102963598	102963598	C	T	exonic	FBXL13	.	nonsynonymous SNV	FBXL13:NM_001111038:exon8:c.G659A:p.R220H,FBXL13:NM_001287150:exon8:c.G659A:p.R220H,FBXL13:NM_145032:exon8:c.G659A:p.R220H	.	439	1053	30	0	0	30	0.0140449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0018	0.0071885	0.0038	0.0004	0.0008	0.0001	0	0.0026	0	0.0170	0.0036157	559	154602	rs75323828	0.0027	0.0027	0.0023	0.0032	0.0160	0.0027	0.0026	0.0153	0.0150	0.0006	0.0009	0.0028	2.523e-05	0.0004	0.0104	0.0020	0.0032	0.0160	0.0021	0.0021	0.0020	0.0021	0.0172	0.0019	0.0018	0.0142	0.0131	0.0005	0	0.0012	0.0040	0.0002	0.0005	0	0.0024	0.0014	0.0172	0.017	0.53172	D	0.052	0.47828	T	0.046	0.37337	B	0.038	0.33005	B	0.000001	0.84330	D	0.000000	0.991942	0.41514	D	.	.	.	2.3	0.53731	T	-3.88	0.74504	D	0.343	0.38950	-0.9450	0.41814	T	0.087	0.33774	T	10	0.007834941	0.00178	T	.	.	.	0.118	0.32913	.	.	0.572760530292	0.56943	0.569052084338332	0.56833	0.19089632529	0.21403	0.327628850937	0.14577	T	0.074581	0.34972	T	-0.416755	0.01795	T	-0.358442	0.38233	T	0.0329960554409471	0.02470	T	0.863414	0.55914	D	0.27332288	0.50400	0.2027575	0.44319	0.27332288	0.50400	0.2027575	0.44318	-6.999	0.54875	T	.	.	0.163	0.38498	B	.;.;.;.;.;.	.;.;.;.;.;.	2.528354	0.32681	19.12	0.99223256273497318	0.55963	0.71514	0.35046	D	AEFBI	0.218257	0.34328	N	-0.230713984750874	0.31878	1.792063	-0.098147394599497	0.35468	2.052286	7.40947855066566E-4	0.07723	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.83	4.02	0.45968	1.351000	0.33626	0.588000	0.19789	-0.192000	0.09343	0.997000	0.40164	0.996000	0.32793	0.874000	0.41677	0.0:0.8635:0.0:0.1365	12.707	0.56435	431	0.80762	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.018939	0.02632	1159.33	34	chr7	102963598	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.98;DP=730;ExcessHet=0;FS=7.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.505;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr7	103309033	103309033	A	G	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon8:c.A931G:p.I311V	.	435	1086	1	0	0	1	0.000460193	.	.	.	3837532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00988091217189	7.7e-05	0.000599042	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs145931070	0.0002	0.0002	9.016e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	6.039e-05	0	0	0	0	0	9.014e-06	0.0002	0.0028	0.0001	0.0001	7.709e-05	0.0001	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	7.217e-05	0	0	0	0	0	0	0	0	0.0027	0.555	0.06648	T	0.518	0.10536	T	0.035	0.20614	B	0.052	0.25551	B	0.000000	0.84330	D	0.048261	0.999938	0.51612	D	1.445	0.36358	L	1.59	0.28836	T	-0.73	0.20576	N	0.149	0.25130	-1.1024	0.03813	T	0.066	0.27191	T	10	0.007566899	0.00172	T	0.009881	0.25743	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.39032581523904325	0.38947	0.11670823845	0.13163	0.619663715363	0.55681	T	0.082087	0.36747	T	-0.52432	0.00415	T	-0.530852	0.19202	T	0.0978661061021254	0.12120	T	0.919108	0.70849	D	0.24821028	0.47806	0.23808044	0.49122	0.24821028	0.47806	0.23808044	0.49121	-3.968	0.23323	T	0.2730606071303544	0.36701	0.088	0.11510	B	.;.	.;.	2.235782	0.28541	17.83	0.96580792598678777	0.30333	0.85005	0.44105	D	AEFGBCI	0.562929	0.57032	D	-0.258830697224144	0.30752	1.717686	-0.0947466650667741	0.35606	2.062039	0.37705048223917	0.19925	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	4.16	0.48138	3.623000	0.53964	6.145000	0.54110	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.7235:0.2765:0.0:0.0	11.865	0.51764	651	0.62880	Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2021.33	33	chr7	103309033	.	A	G	2021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=762;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=1.47;SOR=0.505	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr7	103483818	103483818	A	G	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon62:c.T10016C:p.M3339T,RELN:NM_173054:exon62:c.T10016C:p.M3339T	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	177244	Inborn_genetic_diseases|not_provided|not_specified|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00177242675502	0.0002	.	3.297e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs150638029	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.417e-05	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	1.979e-05	4.969e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.698e-05	0.0004	0.0003	0.0006	0	6.541e-05	0	0	0	0	0	0	0	0.336	0.12878	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.321778	0.14259	N	0.695276	1	0.08975	N	0	0.06538	N	2.07	0.20387	T	1.04	0.01387	N	0.061	0.15609	-0.9618	0.38839	T	0.021	0.08824	T	10	0.03701806	0.02032	T	0.001772	0.03012	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.21052742979368264	0.20968	0.340885797724	0.36025	0.236097872257	0.02450	T	0.036024	0.23947	T	-0.552357	0.00282	T	-0.677166	0.07157	T	0.0123297693615755	0.00200	T	0.509649	0.16214	T	0.032797642	0.03374	0.07573636	0.16704	0.032797642	0.03374	0.07573636	0.16703	-1.889	0.03070	T	0.0333539999583252	0.00142	0.046	0.00056	B	.;.;.	.;.;.	-0.479913	0.01932	0.164	0.58631687110829256	0.06037	0.01621	0.05236	N	AEFBI	0.149561	0.27367	N	-1.25798363121782	0.04196	0.1888923	-1.14306623530403	0.06893	0.3333748	0.0257212097713017	0.13667	0.623552	0.39893	0	0.563428	0.19063	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.64	2.87	0.32523	1.457000	0.34822	1.828000	0.29093	-1.540000	0.00981	0.019000	0.19563	0.008000	0.19753	0.046000	0.14843	0.4314:0.0:0.5686:0.0	8.005	0.29482	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	33	chr7	103483818	.	A	G	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=682;ExcessHet=0;FS=10.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.912;SOR=0.136	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1484	18	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.02632	919.33	35	chr7	103557156	.	G	A	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.495;DP=679;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.95;SOR=0.947	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1396	18	0	1	0
chr7	103574195	103574195	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon30:c.G4408A:p.V1470I,RELN:NM_173054:exon30:c.G4408A:p.V1470I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	177246	RELN-related_disorder|not_specified|Norman-Roberts_syndrome|not_provided|Familial_temporal_lobe_epilepsy_7|Inborn_genetic_diseases	.|MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00564088543804	0.0025	0.000998403	0.0027	0.0005	0.0012	0	0.0012	0.0039	0.0044	0.0019	0.0025032	387	154602	rs143213152	0.0035	0.0035	0.0036	0.0034	0.0041	0.0034	0.0034	0.0040	0.0039	0.0007	0.0012	0.0014	0	0.0014	0.0007	0.0041	0.0037	0.0018	0.0023	0.0023	0.0026	0.0020	0.0039	0.0021	0.0020	0.0035	0.0034	0.0008	0	0.0018	0.0009	0	0.0007	0.0034	0.0039	0.0024	0.0021	0.567	0.06891	T	0.823	0.03795	T	0.08	0.24543	B	0.033	0.22329	B	0.000211	0.47681	D	0.186081	0.929146	0.36917	D	0.215	0.09537	N	1.96	0.46777	T	-0.1	0.08495	N	0.21	0.23380	-1.0549	0.13066	T	0.067	0.27674	T	10	0.009001464	0.00204	T	0.005641	0.14591	T	0.019	0.03383	.	.	0.236619781664	0.23270	0.16521864698319463	0.16441	0.142333352688	0.16047	0.431625425816	0.29431	T	0.06313	0.32096	T	-0.567985	0.00228	T	-0.589168	0.13737	T	0.0116502958590994	0.00178	T	0.843516	0.52087	T	0.06642255	0.14291	0.044297926	0.05708	0.06562176	0.14041	0.054244503	0.09293	-3.912	0.22527	T	0.09443233871247174	0.06320	0.075	0.05579	B	.;.;.	.;.;.	2.139387	0.27245	17.40	0.98417570565768409	0.41244	0.84953	0.44050	D	AEFI	0.377441	0.46121	N	-0.324645290765706	0.28214	1.554407	-0.104901627764552	0.35193	2.033134	0.361092006667339	0.19778	0.648238	0.45900	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	4.48	0.53973	2.914000	0.48495	4.048000	0.41483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.9291:0.0:0.0709	14.624	0.68208	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1170.33	33	chr7	103574195	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.207;DP=733;ExcessHet=0;FS=4.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.151;SOR=0.423	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1374	18	0	1	0
chr7	103652759	103652759	C	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon14:c.G1555T:p.V519F,RELN:NM_173054:exon14:c.G1555T:p.V519F	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1519	1	0	1	2	0.000329056	0.9996	0.992	.	301362	Norman-Roberts_syndrome|not_provided|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	0.00119808	0.0010	0	0.0002	0	0	1.506e-05	0.0022	0.0072	0.0008538	132	154602	rs560704715	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0	4.489e-05	0	2.524e-05	0	0.0002	5.67e-05	0.0006	0.0073	0.0003	0.0003	0.0002	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	5.884e-05	0	0.0075	0.024	0.48186	D	0.046	0.49120	D	0.435	0.39389	B	0.082	0.35019	B	0.002691	0.36102	N	0.284721	0.996511	0.43249	D	0.55	0.14455	N	1.85	0.24472	T	-1.14	0.29323	N	0.539	0.56662	-1.1105	0.03027	T	0.047	0.20116	T	10	0.009126127	0.00206	T	0.00972	0.25381	T	0.047	0.12962	0.367	0.37524	0.0934897674506	0.08844	0.5589908977042667	0.55826	0.299952561941	0.32355	0.421777904034	0.28081	T	0.07195	0.34334	T	-0.455621	0.01046	T	-0.423379	0.30689	T	0.0304841956976632	0.02064	T	0.942406	0.78384	D	0.1947224	0.41232	0.14760011	0.34923	0.1499188	0.34155	0.14656962	0.34718	-4.917	0.35925	T	0.16811009849536868	0.21002	0.091	0.13315	B	.;.;.	.;.;.	2.747940	0.36012	20.1	0.98912333214730308	0.48399	0.97719	0.76640	D	AEFBI	0.822859	0.74309	D	0.0664803017288062	0.44904	2.756077	0.21848163884495	0.50873	3.274898	0.945732586119712	0.27674	0.625279	0.40028	0	0.573888	0.26702	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	5.43	5.43	0.79006	1.814000	0.38610	1.127000	0.24293	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.617	0.95631	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	573.33	39	chr7	103652759	.	C	A	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.622;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	18	0	1	0
chr7	103661414	103661414	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1403A:p.T468N,RELN:NM_173054:exon12:c.C1403A:p.T468N	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4014307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0283263898227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	0.981	0.90584	D	0.966	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.68	0.27184	T	-2.24	0.50175	N	0.777	0.78451	-0.9831	0.34281	T	0.123	0.42610	T	10	0.7704549	0.77040	D	0.028326	0.51021	D	0.275	0.59130	0.44	0.49484	0.320526991862	0.31653	0.7951697022479258	0.79469	0.402967477826	0.41245	0.723408579826	0.70544	T	0.187568	0.54121	T	-0.0781113	0.40020	T	-0.349978	0.39208	T	0.890162944793701	0.54095	D	0.915608	0.69895	D	0.26242894	0.49304	0.24866363	0.50422	0.26242894	0.49304	0.24866363	0.50421	-8.98	0.67568	D	0.5374114234502853	0.60748	0.643	0.70629	P	.;.;.	.;.;.	3.605137	0.50945	23.0	0.98812471983242511	0.46639	0.87653	0.47264	D	AEFBCI	0.947965	0.95908	D	0.517607389249996	0.68132	5.175197	0.497417738004897	0.67818	5.135285	0.999999999999992	0.74766	0.643511	0.44296	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.3	5.3	0.74745	7.684000	0.83402	8.710000	0.78133	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	18.938	0.92569	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	195.33	33	chr7	103661414	.	G	T	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.346;DP=765;ExcessHet=0;FS=111.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.907;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1297:.	18	0	1	0
chr7	103661416	103661416	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1401A:p.D467E,RELN:NM_173054:exon12:c.C1401A:p.D467E	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0249109346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53900	D	0.007	0.69154	D	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.992908	0.41777	D	0.895	0.22405	L	1.69	0.27032	T	-1.72	0.40850	N	0.858	0.85449	-1.0883	0.05821	T	0.092	0.34983	T	10	0.79525125	0.79011	D	0.024911	0.47894	T	0.253	0.56294	0.646	0.78330	0.638632547783	0.63565	0.6743898116598963	0.67376	0.657864007045	0.58718	0.789610028267	0.80383	T	0.151882	0.49203	T	-0.00590738	0.50838	T	-0.246262	0.50184	T	0.764917850494385	0.44137	D	0.907909	0.67446	D	0.16260381	0.36347	0.13722478	0.32806	0.16260381	0.36347	0.13722478	0.32805	-5.201	0.38952	T	0.597255461181313	0.66417	0.521	0.65528	A	.;.;.	.;.;.	2.222445	0.28365	17.77	0.99386227872068578	0.62113	0.66393	0.33063	D	AEFBCI	0.708876	0.66315	D	-0.072127323130039	0.38618	2.264604	-0.118625604543663	0.34639	1.994826	0.99991372119339	0.45857	0.643511	0.44296	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.3	2.5	0.29355	2.299000	0.43271	1.009000	0.23318	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.3909:0.0:0.6091:0.0	8.116	0.30105	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	195.33	33	chr7	103661416	.	G	T	195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.182;DP=764;ExcessHet=0;FS=111.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.861;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1297:.	18	0	1	0
chr7	103661457	103661457	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1360A:p.L454I,RELN:NM_173054:exon12:c.C1360A:p.L454I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0112175312201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46513	D	0.155	0.31936	T	0.956	0.60381	P	0.931	0.66596	D	0.000193	0.48115	D	0.149558	0.86242	0.35412	D	0.805	0.20218	L	1.91	0.23283	T	-0.57	0.17210	N	0.509	0.54584	-0.9876	0.33200	T	0.087	0.33634	T	10	0.34557885	0.51529	T	0.011218	0.28621	T	0.125	0.34456	0.405	0.43738	0.143184338766	0.13958	0.28985269207060804	0.28898	0.70931437092	0.61621	0.516553640366	0.41141	T	0.091412	0.38789	T	-0.150712	0.28200	T	-0.454264	0.27227	T	0.850507497787476	0.50209	D	0.888311	0.61778	D	0.103741445	0.24522	0.08596918	0.19886	0.103741445	0.24521	0.08596918	0.19885	-4.717	0.33610	T	0.2631145919412687	0.35500	0.132	0.28607	B	.;.;.	.;.;.	3.434580	0.47750	22.5	0.99263210966192184	0.57289	0.79405	0.39341	D	AEFBCI	0.785225	0.71567	D	0.477834730318773	0.65799	4.868034	0.529614158061986	0.69993	5.440078	0.999999862972196	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.954000	0.63335	6.728000	0.56449	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0778:0.0:0.9222:0.0	12.316	0.54278	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr7	103661457	.	G	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.242;DP=754;ExcessHet=0;FS=47.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-1.091;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1297:.	18	0	1	0
chr7	103661458	103661458	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon12:c.C1359A:p.F453L,RELN:NM_173054:exon12:c.C1359A:p.F453L	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.026800171112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.017	0.60337	D	0.924	0.51285	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999413	0.46970	D	0.975	0.24501	L	1.91	0.23283	T	-2.09	0.47683	N	0.912	0.92084	-1.0706	0.09282	T	0.086	0.33550	T	10	0.8486978	0.84042	D	0.027	0.49675	D	0.249	0.55752	0.721	0.85585	0.482983323606	0.47928	0.8056074165062869	0.80515	0.725124528718	0.62432	0.708046078682	0.68310	T	0.150654	0.49023	T	0.131247	0.67482	D	-0.0492495	0.67073	D	0.769432306289673	0.44405	D	0.815918	0.47089	T	0.26459005	0.49526	0.19117975	0.42562	0.26459005	0.49526	0.19117975	0.42561	-8.82	0.66531	D	0.6153414892861393	0.68325	0.939	0.85832	P	.;.;.	.;.;.	3.789577	0.54539	23.5	0.99853214395081746	0.93191	0.74286	0.36339	D	AEFBCI	0.704807	0.66040	D	0.24867133298644	0.53572	3.525596	0.285641144912547	0.54699	3.634234	0.999991732807561	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.3	4.4	0.52402	2.145000	0.41830	4.529000	0.43718	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3081:0.0:0.6919:0.0	6.833	0.23102	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr7	103661458	.	G	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.746;DP=753;ExcessHet=0;FS=47.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-1.113;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1297:.	18	0	1	0
chr7	103833594	103833594	G	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon3:c.C416G:p.T139S,RELN:NM_173054:exon3:c.C416G:p.T139S	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1510	10	1	0	12	0.00395778	.	.	.	135567	not_specified|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|Epilepsy,_familial_temporal_lobe,_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0005	0.0171725	0.0075	0.0004	0.0269	0.0644	0	0.0003	0.0055	0.0008	0.0070827	1095	154602	rs79471015	0.0031	0.0031	0.0032	0.0029	0.0732	0.0030	0.0030	0.0710	0.0701	0.0004	0.0224	0.0010	0.0732	0	0.0010	0.0003	0.0025	0.0009	0.0037	0.0037	0.0035	0.0039	0.0610	0.0034	0.0033	0.0554	0.0532	0.0006	0	0.0118	0.0006	0.0610	0	0	0.0004	0.0038	0.0015	0.099	0.30800	T	0.488	0.11621	T	0.074	0.24142	B	0.084	0.29270	B	0.000024	0.55875	D	0.115168	0.994417	0.42273	D	0.395	0.12235	N	1.86	0.24285	T	-0.83	0.23372	N	0.348	0.39558	-1.0504	0.14285	T	0.003	0.00929	T	10	0.0037332475	0.00069	T	.	.	.	0.074	0.21613	0.608	0.74063	0.339940258815	0.33601	0.29428215907676564	0.29341	0.209223215926	0.23394	0.59536075592	0.52250	T	0.060205	0.31322	T	-0.560275	0.00253	T	-0.511628	0.21148	T	0.0119427173139379	0.00187	T	0.70513	0.31558	T	0.15987913	0.35891	0.15249287	0.35876	0.17900828	0.38950	0.13038436	0.31330	-2.909	0.09233	T	0.34362294509344743	0.44123	0.157	0.34645	B	.;.;.	.;.;.	4.093837	0.60986	24.3	0.99020228216418849	0.50569	0.96212	0.68050	D	AEFDBI	0.881720	0.80930	D	-0.042132279242404	0.39955	2.364651	0.182950709575049	0.48914	3.101027	0.999833638802931	0.43792	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	5.697000	0.67954	11.881000	0.98835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.393	0.94583	756	0.51065	Reeler domain|Reeler domain|Reeler domain;.;Reeler domain|Reeler domain|Reeler domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.009202	0.007576	0.02632	819.33	34	chr7	103833594	.	G	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=703;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.639;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	18	0	1	0
chr7	105462718	105462718	C	G	exonic	PUS7	.	nonsynonymous SNV	PUS7:NM_001318163:exon14:c.G1678C:p.D560H,PUS7:NM_001318164:exon14:c.G1660C:p.D554H,PUS7:NM_019042:exon14:c.G1660C:p.D554H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.055038486474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294673867	3.422e-06	3.42e-06	2.724e-06	4.127e-06	2.321e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.321e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	0.96	0.42888	T	-4.16	0.75375	D	0.883	0.90138	-0.3220	0.74366	T	0.328	0.69623	T	10	0.9573015	0.95103	D	0.055038	0.66082	D	0.662	0.87381	0.845	0.94906	0.599885882726	0.59670	0.9338346136769011	0.93362	0.782286968558	0.65355	0.714573740959	0.69256	T	0.242698	0.61148	T	0.220821	0.75853	D	0.180048	0.81999	D	0.986958205699921	0.77550	D	0.973153	0.90356	D	0.77853566	0.82564	0.6139057	0.77531	0.77853566	0.82565	0.6139057	0.77532	-10.384	0.76178	D	0.4821887401032837	0.56065	0.933	0.85255	P	.;.	.;.	5.326632	0.89396	30	0.9959850022167609	0.74042	0.98860	0.87816	D	AEFBI	0.886152	0.81729	D	0.926691610088775	0.93004	11.76186	0.885403728122328	0.94905	13.14121	0.999999992756038	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	7.497000	0.80382	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.651	0.91389	918	0.19598	Pseudouridine synthase, TruD, insertion domain;Pseudouridine synthase, TruD, insertion domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1990.33	36	chr7	105462718	.	C	G	1990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=889;ExcessHet=0;FS=4.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.849;SOR=0.997	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1458	18	0	1	0
chr7	105495167	105495167	T	C	exonic	PUS7	.	nonsynonymous SNV	PUS7:NM_001318163:exon6:c.A835G:p.I279V,PUS7:NM_001318164:exon6:c.A817G:p.I273V,PUS7:NM_019042:exon6:c.A817G:p.I273V	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0121904415911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	2.052e-06	2.735e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.39	0.15506	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.8	0.19659	N	1.08	0.39401	T	-0.2	0.10136	N	0.586	0.61764	-0.8703	0.50506	T	0.185	0.53391	T	10	0.5843971	0.66028	D	0.01219	0.30540	T	0.171	0.43483	0.614	0.74768	0.364342057095	0.36045	0.36685892591494684	0.36599	0.441760154808	0.44160	0.781971991062	0.79225	T	0.032187	0.22378	T	-0.0793359	0.39823	T	-0.351737	0.39005	T	0.883497953414917	0.53367	D	0.936306	0.76101	D	0.22953926	0.45692	0.08119289	0.18433	0.22953926	0.45692	0.08119289	0.18432	-4.065	0.24772	T	0.26962453956612176	0.36292	0.153	0.33823	B	.;.	.;.	4.040221	0.59810	24.1	0.99815388958022289	0.89885	0.98868	0.87925	D	AEBI	0.862487	0.78078	D	0.313608544569492	0.56846	3.850128	0.415381016004863	0.62522	4.469064	0.99999895758405	0.74766	0.643511	0.44296	0	0.708844	0.79440	0	0.643519	0.47002	0	0.631631	0.49550	0	.	.	5.21	5.21	0.72005	7.419000	0.79384	7.875000	0.72177	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.255	0.65595	896	0.25515	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1680.33	39	chr7	105495167	.	T	C	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=843;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.443;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	18	0	1	0
chr7	105550393	105550393	A	G	exonic	RINT1	.	nonsynonymous SNV	RINT1:NM_001346603:exon6:c.A217G:p.S73G,RINT1:NM_001346599:exon9:c.A1006G:p.S336G,RINT1:NM_001346600:exon9:c.A217G:p.S73G,RINT1:NM_001346601:exon9:c.A316G:p.S106G,RINT1:NM_021930:exon9:c.A1240G:p.S414G	.	426	1092	4	0	0	4	0.00182815	.	.	.	635411	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00743295749695	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs781158188	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	.	.	0	0	0	0	0	0.0002	8.993e-07	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.182	0.29249	T	0.005	0.12996	B	0.01	0.14941	B	0.000003	0.62929	D	0.164525	0.995472	0.42708	D	1.445	0.36358	L	1.39	0.33842	T	-1.99	0.45949	N	0.321	0.36148	-1.0986	0.04265	T	0.074	0.29802	T	10	0.16542599	0.30920	T	0.007433	0.19712	T	0.068	0.19811	0.449	0.50957	0.524946584802	0.52141	0.11460219075675497	0.11388	0.175502523461	0.19754	0.491897523403	0.37702	T	0.147806	0.48606	T	-0.110449	0.34694	T	-0.396429	0.33800	T	0.314620509809982	0.25603	T	0.748825	0.36981	T	0.13607104	0.31556	0.15851541	0.37013	0.13607104	0.31556	0.15851541	0.37012	-5.633	0.43093	T	.	.	0.054	0.00328	B	.	.	2.454403	0.31607	18.79	0.99288165836840392	0.58149	0.93048	0.57195	D	AEFDGBHI	0.263570	0.38109	N	-0.124404673990201	0.36330	2.098645	0.0698101257295369	0.43040	2.614034	0.307666421144214	0.19255	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	3.077000	0.49787	6.887000	0.56830	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	15.651	0.76846	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1082.33	33	chr7	105550393	.	A	G	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=749;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=0.283;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4414.83	86	chr7	105613788	.	C	T	4414.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=1301;ExcessHet=0.119;FS=1.322;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.84;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	17	0	2	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.82	110	chr7	105614066	.	G	C	302.82	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.972;DP=2197;ExcessHet=0.7564;FS=135.624;InbreedingCoeff=-0.2184;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.08;SOR=10.318	GT:AD:DP:GQ:PL	0/0:83,20:103:50:0,50,1623	10	0	4	5
chr7	105788641	105788641	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001385596:exon3:c.C318G:p.N106K,ATXN7L1:NM_020725:exon3:c.C318G:p.N106K,ATXN7L1:NM_152749:exon3:c.C318G:p.N106K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0077	0.00379393	0.0077	0.0012	0.0054	0	0.0023	0.0113	0.0077	0.0051	0.0074579	1153	154602	rs28927677	0.0081	0.0081	0.0080	0.0082	0.0144	0.0080	0.0079	0.0119	0.0110	0.0012	0.0061	0.0159	0	0.0034	0.0144	0.0089	0.0079	0.0052	0.0066	0.0066	0.0072	0.0060	0.0103	0.0063	0.0061	0.0096	0.0094	0.0011	0.0022	0.0078	0.0236	0	0.0018	0.0034	0.0103	0.0076	0.0041	0.01	0.56456	D	0.058	0.64786	T	0.361	0.33905	B	0.036	0.22909	B	0.027623	0.25726	N	0.381598	0.988571	0.40788	D	1.83	0.48079	L	1.51	0.30937	T	-1.75	0.64710	N	0.547	0.59053	-1.1226	0.02173	T	0.042	0.18076	T	10	0.009251058	0.00209	T	.	.	.	0.054	0.15330	0.394	0.41935	0.405012372841	0.40113	0.2807373689386551	0.27986	0.538293804333	0.51094	0.667548060417	0.62488	T	0.007687	0.07080	T	-0.571769	0.00216	T	-0.584688	0.14130	T	0.0167754753692597	0.00433	T	0.794321	0.67676	T	0.12191851	0.28659	0.111467086	0.26888	0.12191851	0.28659	0.111467086	0.26888	-6.405	0.52715	T	.	.	0.714	0.73533	P	.;.;.	.;.;.	2.291149	0.29305	18.08	0.99211898793577336	0.55624	0.73606	0.36004	D	AEFDBCI	0.378636	0.46196	N	-0.343299740688166	0.27520	1.510493	-0.286956831858924	0.28527	1.591313	0.952434576798502	0.28016	0.643511	0.44296	0	0.548873	0.16688	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	6.03	-0.335	0.12034	0.355000	0.19902	2.759000	0.34591	-0.116000	0.14526	0.980000	0.35271	1.000000	0.68203	0.996000	0.76049	0.5664:0.0:0.4336:0.0	9.978	0.40966	899	0.25060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013105	0.000000	0.001359	0.032164	0.050000	0.025862	0.024390	0.003817	0.02632	1230.33	33	chr7	105788641	.	G	C	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=730;ExcessHet=0;FS=2.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.537;SOR=0.49	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1244,0,1405	18	0	1	0
chr7	106905362	106905362	A	G	exonic	PIK3CG	.	nonsynonymous SNV	PIK3CG:NM_001282426:exon11:c.A3284G:p.K1095R,PIK3CG:NM_001282427:exon11:c.A3284G:p.K1095R,PIK3CG:NM_002649:exon11:c.A3284G:p.K1095R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0341314417915	.	0.000599042	0.0001	0	0	0	0	3.007e-05	0	0.0009	0.0001358	21	154602	rs542155244	9.852e-05	9.85e-05	6.126e-05	0.0001	0.0012	8.513e-05	7.983e-05	0.0010	0.0010	0	0	0	0	0	0	2.788e-05	0.0001	0.0012	7.221e-05	7.217e-05	7.709e-05	6.711e-05	0.0015	3.967e-05	3.125e-05	0.0007	0.0005	2.404e-05	0	0	0	0	0	0	4.41e-05	0	0.0015	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.32	0.33002	L	-0.59	0.71543	T	-0.9	0.24244	N	0.366	0.41853	-0.4796	0.69381	T	0.394	0.74714	T	10	0.07025632	0.10194	T	0.034131	0.55463	D	0.292	0.61157	.	.	0.704749371114	0.70218	0.5538031424564215	0.55306	1.09453119836	0.77539	0.788957476616	0.80284	T	0.220155	0.58336	T	-0.214676	0.18726	T	-0.137491	0.60335	T	0.258283223762783	0.23240	T	0.882412	0.60266	D	0.22032808	0.44585	0.26981825	0.52866	0.22032808	0.44585	0.26981825	0.52865	-3.815	0.21029	T	.	.	0.133	0.30608	B	.;.;.	.;.;.	4.518023	0.70818	25.6	0.99906633852298188	0.97726	0.99827	0.99715	D	AEFBI	0.928930	0.91391	D	0.619136213900379	0.74387	6.123885	0.672791037164299	0.80320	7.272372	0.999999999621169	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.596491	0.31596	0	0.668105	0.65232	0	.	.	5.94	5.94	0.96165	8.911000	0.92272	11.255000	0.90877	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.407	0.83529	287	0.88635	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1578.33	36	chr7	106905362	.	A	G	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.982;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	0
chr7	107281356	107281356	C	T	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon7:c.G805A:p.V269M,COG5:NM_001379515:exon9:c.G949A:p.V317M,COG5:NM_001379511:exon13:c.G1357A:p.V453M,COG5:NM_001161520:exon14:c.G1519A:p.V507M,COG5:NM_001379512:exon14:c.G1519A:p.V507M,COG5:NM_001379513:exon14:c.G1519A:p.V507M,COG5:NM_001379514:exon14:c.G1519A:p.V507M,COG5:NM_006348:exon14:c.G1519A:p.V507M,COG5:NM_181733:exon14:c.G1519A:p.V507M	Congenital disorder of glycosylation, type IIi	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0383147976175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.997	0.73220	D	0.953	0.75168	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.27	0.90083	M	0.24	0.59583	T	-2.38	0.52451	N	0.907	0.90818	-0.3200	0.74421	T	0.385	0.74061	T	10	0.8139026	0.80647	D	0.038315	0.58150	D	0.352	0.67326	0.376	0.38994	0.798596760564	0.79672	0.6837286937653266	0.68311	0.346466417357	0.36554	0.651236593723	0.60161	T	0.182679	0.53478	T	0.331308	0.85250	D	0.238124	0.85054	D	0.976183116436005	0.71265	D	0.949705	0.80662	D	0.37748802	0.59134	0.41227487	0.65435	0.37748802	0.59134	0.41227487	0.65435	-6.398	0.51145	T	.	.	0.617	0.69592	P	.;.;.	.;.;.	4.860829	0.79544	27.1	0.99885261416270976	0.96049	0.97793	0.77174	D	AEFI	0.817280	0.73881	D	0.743695880027006	0.82493	7.776334	0.728053434146827	0.84507	8.311622	0.999952295579123	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	5.3	0.74745	7.123000	0.76796	5.961000	0.51824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9348:0.0:0.0652	15.699	0.77287	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	34	chr7	107281356	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.459;SOR=0.73	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr7	107324511	107324511	G	A	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon4:c.C323T:p.P108L,COG5:NM_001161520:exon11:c.C1037T:p.P346L,COG5:NM_001379511:exon11:c.C1037T:p.P346L,COG5:NM_001379512:exon11:c.C1037T:p.P346L,COG5:NM_001379513:exon11:c.C1037T:p.P346L,COG5:NM_001379514:exon11:c.C1037T:p.P346L,COG5:NM_006348:exon11:c.C1037T:p.P346L,COG5:NM_181733:exon11:c.C1037T:p.P346L	Congenital disorder of glycosylation, type IIi	124	1394	4	0	0	4	0.00143266	.	.	.	270301	COG5-related_disorder|Inborn_genetic_diseases|not_provided|COG5-congenital_disorder_of_glycosylation	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0254403389719	0.0008	0.000199681	0.0009	0.0009	0.0014	0.0001	0	0.0011	0.0022	0.0001	0.0008085	125	154602	rs143773937	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0004	0.0007	0.0113	7.62e-05	0	0.0017	0.0003	0.0014	0.0002	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0005	0.0101	0.0002	0	0	0.0004	0.0005	0	0.029	0.47320	D	0.061	0.45744	T	0.103	0.29693	B	0.017	0.25551	B	0.015353	0.28271	N	0.422656	0.999979	0.53665	D	2.2	0.62015	M	0.44	0.56609	T	-3.68	0.70314	D	0.203	0.27910	-0.8445	0.52345	T	0.168	0.50697	T	10	0.005508989	0.00122	T	0.02544	0.48409	D	0.087	0.25287	.	.	0.56874858234	0.56539	0.28237833917633737	0.28150	0.0638151823165	0.07108	0.288906216621	0.08763	T	0.111347	0.42676	T	-0.363668	0.03927	T	-0.365319	0.37437	T	0.0427339328725148	0.04188	T	0.906609	0.67067	D	0.22645898	0.45327	0.15863706	0.37035	0.22645898	0.45327	0.15863706	0.37035	-6.457	0.49953	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	3.244757	0.44309	21.9	0.978183391629321	0.36174	0.89939	0.50738	D	AEFBI	0.424515	0.48966	N	0.133827866328755	0.48045	3.022048	0.257369859696174	0.53071	3.477843	0.999999788860004	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.241000	0.65206	7.513000	0.59647	0.669000	0.69127	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	16.949	0.86110	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003040	0.000000	0.005450	0.000000	0.000000	0.000000	0.006173	0.000000	0.02632	252.33	22	chr7	107324511	.	G	A	252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=573;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.355;SOR=0.412	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	1	1516	5	0	0	5	0.00164636	0.5408	0.332	YES	19881	Pendred_syndrome|Rare_genetic_deafness|SLC26A4-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:C5680250,Orphanet:96210|.|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2969.33	36	chr7	107689054	.	T	C	2969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.691;DP=864;ExcessHet=0;FS=7.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.072;SOR=0.382	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C	Lissencephaly 5, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	428654	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	3674.83	34	chr7	107940269	.	G	A	3674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=888;ExcessHet=0.119;FS=2.622;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.83;SOR=0.553	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	17	0	2	0
chr7	107959763	107959763	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon19:c.C2386T:p.P796S	Lissencephaly 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4152662	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0374168422556	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs547005958	4.104e-05	4.104e-05	3.131e-05	5.088e-05	0.0006	3.244e-05	2.919e-05	0.0005	0.0005	0	0	0	0	0	0.0002	0	6.623e-05	0.0006	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.055	0.38407	T	0.098	0.39954	T	0.893	0.51990	P	0.545	0.58928	P	.	.	.	.	0.999999	0.58761	D	2.16	0.60381	M	0.04	0.62051	T	-5.53	0.86073	D	0.412	0.45237	-0.2984	0.75029	T	0.410	0.75880	T	9	0.28867814	0.46450	T	0.037417	0.57603	D	0.297	0.61730	0.721	0.85585	0.676109863045	0.67336	0.5214940509268828	0.52072	0.302519786144	0.32581	0.653697371483	0.60511	T	0.259106	0.63033	T	-0.220486	0.17928	T	-0.162294	0.58145	T	0.638247072696686	0.37963	D	0.923908	0.72182	D	0.23383068	0.46194	0.3938325	0.64093	0.23383068	0.46194	0.3938325	0.64092	-6.745	0.52148	T	.	.	0.093	0.24566	B	.;.;.	.;.;.	4.295932	0.65548	24.8	0.99924291426125234	0.98980	0.93864	0.59412	D	AEFBCI	0.739844	0.68427	D	0.488654562656887	0.66425	4.948608	0.534985724794749	0.70358	5.493704	0.999999999676125	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.688494	0.62686	0	0.711	0.71501	0	.	.	5.31	5.31	0.75063	4.538000	0.60361	7.638000	0.63056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.174	0.93583	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1669.33	34	chr7	107959763	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=834;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=2.03;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	18	0	1	0
chr7	107975797	107975797	C	T	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon10:c.G1081A:p.V361M	Lissencephaly 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0580050436186	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258805799	6.157e-06	6.84e-06	6.806e-06	5.5e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.86255	D	.	.	.	.	1	0.81001	D	3.345	0.91022	M	0.03	0.62183	T	-2.85	0.60029	D	0.748	0.78641	0.148	0.85016	D	0.520	0.82086	D	9	0.85956055	0.85169	D	0.058005	0.67166	D	0.502	0.78475	0.729	0.86286	0.734608935481	0.73224	0.6776522523504608	0.67704	0.476022926386	0.46751	0.760132670403	0.75948	T	0.315	0.68646	T	0.23427	0.77121	D	0.0987366	0.76824	D	0.99728786945343	0.91194	D	0.970203	0.89274	D	0.7824531	0.82804	0.79188627	0.87763	0.7824531	0.82806	0.79188627	0.87763	-10.297	0.75671	D	.	.	0.343	0.56085	A	.;.;.	.;.;.	5.327694	0.89412	30	0.99918404275274397	0.98586	0.96770	0.70846	D	AEFBCI	0.918858	0.88853	D	0.938144411086339	0.93498	12.08018	0.884032004090356	0.94837	13.08509	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.818000	0.84740	7.646000	0.63445	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	19.174	0.93579	743	0.52768	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1544.33	35	chr7	107975797	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=2.44;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1402	18	0	1	0
chr7	108063799	108063799	G	A	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon22:c.C3023T:p.P1008L,LAMB4:NM_001318047:exon22:c.C3023T:p.P1008L,LAMB4:NM_007356:exon22:c.C3023T:p.P1008L	.	431	1089	1	1	0	3	0.00137552	.	.	.	3456216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0317074025902	.	.	9.884e-05	0	0	0	0	0.0001	0.0011	0.0002	7.76e-05	12	154602	rs200188661	7.319e-05	7.319e-05	6.942e-05	7.7e-05	0.0009	6.181e-05	5.741e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	7.194e-05	1.656e-05	0.0002	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.409e-05	0	0	0.367	0.47745	T	0.872	0.67890	T	0.51	0.37313	P	0.231	0.38266	B	0.000072	0.52346	D	0.000000	0.999999	0.58761	D	2.19	0.61577	M	-0.05	0.63403	T	-3.62	0.71882	D	0.346	0.40465	-0.8081	0.54665	T	0.215	0.57679	T	10	0.29863164	0.47419	T	0.031707	0.53723	D	0.219	0.51417	0.617	0.75116	0.197625483188	0.19356	0.5734865640010341	0.57277	0.355917941102	0.37347	0.472314745188	0.34998	T	0.281523	0.65425	T	-0.221393	0.17804	T	-0.281492	0.46650	T	0.640849232673645	0.38073	D	0.69863	0.30863	T	0.21582863	0.44026	0.25258967	0.50890	0.21582863	0.44026	0.25258967	0.50889	-6.633	0.51304	T	.	.	0.094	0.14339	B	.;.;.	.;.;.	3.994805	0.58824	24.0	0.74578258396154651	0.10748	0.69843	0.34349	D	ALL	0.434872	0.49574	N	-0.159529257713318	0.34831	1.993147	-0.174118039034668	0.32491	1.849061	0.999999999999999	0.74766	0.554377	0.28877	0	0.596394	0.48810	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.02	4.14	0.47821	3.163000	0.50462	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.609000	0.31615	0.0755:0.0:0.9245:0.0	13.443	0.60573	720	0.55521	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	780.33	33	chr7	108063799	.	G	A	780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=700;ExcessHet=0;FS=6.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.445;SOR=1.38	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	108066513	108066513	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon20:c.G2534A:p.R845H,LAMB4:NM_001318047:exon20:c.G2534A:p.R845H,LAMB4:NM_007356:exon20:c.G2534A:p.R845H	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0218377442722	.	.	0.0001	0.0001	0	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs199518603	8.62e-05	8.756e-05	8.032e-05	9.214e-05	0.0009	7.354e-05	6.904e-05	0.0003	0.0002	5.974e-05	2.236e-05	0	0	0	0.0009	8.184e-05	6.624e-05	0.0003	5.914e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	2.261e-05	1.032e-05	7.239e-05	0	0.0001	0	0	0	0	4.409e-05	0.0005	0	0.087	0.32453	T	0.028	0.54934	D	0.141	0.27581	B	0.029	0.21540	B	0.263535	0.15267	N	0.575580	0.569502	0.31190	N	2.505	0.72935	M	-0.04	0.63240	T	-3.32	0.66085	D	0.074	0.04913	-0.8448	0.52325	T	0.216	0.57771	T	10	0.07836059	0.12479	T	0.021838	0.44662	T	0.173	0.43840	0.589	0.71749	0.0401082797425	0.02173	0.49261044913595436	0.49182	0.094433556557	0.10659	0.187885701656	0.00190	T	0.253895	0.62448	T	-0.399098	0.02347	T	-0.510729	0.21241	T	0.0582082457840443	0.06884	T	0.89721	0.64041	D	0.09739298	0.22955	0.14829461	0.35061	0.09739298	0.22955	0.14829461	0.35060	-6.234	0.48197	T	.	.	0.071	0.04119	B	.;.	.;.	0.744507	0.11139	7.782	0.98139887597296305	0.38597	0.09447	0.15201	N	AEFDGBCI	0.076232	0.15330	N	-0.727370384151214	0.15255	0.7672038	-0.881082967882294	0.12542	0.6457763	0.999164771871028	0.38622	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	4.98	-3.3	0.04692	-1.945000	0.01628	-7.842000	0.01076	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.319000	0.24947	0.2869:0.3155:0.0983:0.2992	0.974	0.01334	717	0.55835	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1562.33	33	chr7	108066513	.	C	T	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=766;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.762;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr7	108091774	108091774	C	A	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon14:c.G1553T:p.C518F,LAMB4:NM_001318047:exon14:c.G1553T:p.C518F,LAMB4:NM_001318048:exon14:c.G1553T:p.C518F,LAMB4:NM_007356:exon14:c.G1553T:p.C518F	.	430	1091	1	0	0	1	0.000458085	.	.	.	3287323	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.908	0.186263424204	0.0002	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs116967479	8.216e-05	8.209e-05	8.311e-05	8.12e-05	0.0003	7.008e-05	6.558e-05	0.0002	0.0001	0	0.0003	0.0019	0	0	0	3.148e-05	0.0002	0.0001	5.91e-05	5.906e-05	5.14e-05	6.714e-05	0.0002	3.075e-05	2.209e-05	2.847e-05	1.858e-05	0	0	0	0.0009	0	0	0	7.351e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000081	0.51296	D	0.000000	1	0.81001	D	4.415	0.98701	H	-3.4	0.94260	D	-10.53	0.99207	D	0.725	0.76760	1.096	0.99473	D	0.931	0.97730	D	10	0.8142727	0.80682	D	0.186263	0.85864	D	0.908	0.97512	.	.	0.378322506985	0.37446	0.9769360098311966	0.97683	0.274884690193	0.29973	0.578878283501	0.49928	T	0.302382	0.67478	T	0.320986	0.84543	D	0.478343	0.94175	D	0.995692074298859	0.87897	D	0.749125	0.38939	T	0.9454973	0.95807	0.8909257	0.94333	0.9454973	0.95807	0.8909257	0.94333	-13.29	0.90521	D	.	.	0.831	0.78771	P	.;.;.	.;.;.	3.805820	0.54866	23.5	0.99143937846840802	0.53627	0.94407	0.61067	D	AEFDBHCI	0.727594	0.67589	D	0.77331150505992	0.84414	8.280694	0.618496717426001	0.76285	6.462615	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.56	4.56	0.55644	4.177000	0.58072	2.220000	0.31442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:1.0:0.0:0.0	17.123	0.86585	685	0.59416	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2289.33	187	chr7	108091774	.	C	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.153;SOR=0.678	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1415	18	0	1	0
chr7	108189677	108189677	G	T	exonic	NRCAM	.	nonsynonymous SNV	NRCAM:NM_001371182:exon15:c.C1898A:p.T633N,NRCAM:NM_001371137:exon16:c.C1046A:p.T349N,NRCAM:NM_001371180:exon16:c.C1685A:p.T562N,NRCAM:NM_001371148:exon17:c.C1685A:p.T562N,NRCAM:NM_001371151:exon17:c.C1955A:p.T652N,NRCAM:NM_001371164:exon17:c.C1658A:p.T553N,NRCAM:NM_001371170:exon17:c.C1685A:p.T562N,NRCAM:NM_001371176:exon17:c.C1955A:p.T652N,NRCAM:NM_001371178:exon17:c.C1955A:p.T652N,NRCAM:NM_001371181:exon17:c.C1946A:p.T649N,NRCAM:NM_001371125:exon18:c.C1658A:p.T553N,NRCAM:NM_001371134:exon18:c.C1952A:p.T651N,NRCAM:NM_001371136:exon18:c.C1955A:p.T652N,NRCAM:NM_001371143:exon18:c.C1658A:p.T553N,NRCAM:NM_001371152:exon18:c.C1955A:p.T652N,NRCAM:NM_001371157:exon18:c.C1955A:p.T652N,NRCAM:NM_001371175:exon18:c.C1955A:p.T652N,NRCAM:NM_001371177:exon18:c.C1946A:p.T649N,NRCAM:NM_001371179:exon18:c.C1685A:p.T562N,NRCAM:NM_005010:exon18:c.C1955A:p.T652N,NRCAM:NM_001193583:exon19:c.C1946A:p.T649N,NRCAM:NM_001193584:exon19:c.C1946A:p.T649N,NRCAM:NM_001371119:exon19:c.C1946A:p.T649N,NRCAM:NM_001371122:exon19:c.C1946A:p.T649N,NRCAM:NM_001371124:exon19:c.C1946A:p.T649N,NRCAM:NM_001371129:exon19:c.C1946A:p.T649N,NRCAM:NM_001371130:exon19:c.C1955A:p.T652N,NRCAM:NM_001371133:exon19:c.C1955A:p.T652N,NRCAM:NM_001371135:exon19:c.C1946A:p.T649N,NRCAM:NM_001371140:exon19:c.C1946A:p.T649N,NRCAM:NM_001371142:exon19:c.C1658A:p.T553N,NRCAM:NM_001371145:exon19:c.C1946A:p.T649N,NRCAM:NM_001371146:exon19:c.C1946A:p.T649N,NRCAM:NM_001371147:exon19:c.C1658A:p.T553N,NRCAM:NM_001371150:exon19:c.C1973A:p.T658N,NRCAM:NM_001371154:exon19:c.C1946A:p.T649N,NRCAM:NM_001371158:exon19:c.C1946A:p.T649N,NRCAM:NM_001371159:exon19:c.C1973A:p.T658N,NRCAM:NM_001371160:exon19:c.C1985A:p.T662N,NRCAM:NM_001371171:exon19:c.C1955A:p.T652N,NRCAM:NM_001371172:exon19:c.C1946A:p.T649N,NRCAM:NM_001371174:exon19:c.C1973A:p.T658N,NRCAM:NM_001037132:exon20:c.C2003A:p.T668N,NRCAM:NM_001193582:exon20:c.C2003A:p.T668N,NRCAM:NM_001371123:exon20:c.C2003A:p.T668N,NRCAM:NM_001371126:exon20:c.C1946A:p.T649N,NRCAM:NM_001371127:exon20:c.C2000A:p.T667N,NRCAM:NM_001371132:exon20:c.C1946A:p.T649N,NRCAM:NM_001371138:exon20:c.C2003A:p.T668N,NRCAM:NM_001371139:exon20:c.C1946A:p.T649N,NRCAM:NM_001371141:exon20:c.C1946A:p.T649N,NRCAM:NM_001371149:exon20:c.C2003A:p.T668N,NRCAM:NM_001371156:exon20:c.C2003A:p.T668N,NRCAM:NM_001371161:exon20:c.C2003A:p.T668N,NRCAM:NM_001371162:exon20:c.C1946A:p.T649N,NRCAM:NM_001371166:exon20:c.C1946A:p.T649N,NRCAM:NM_001371167:exon20:c.C1946A:p.T649N,NRCAM:NM_001371169:exon20:c.C2003A:p.T668N,NRCAM:NM_001371173:exon20:c.C2003A:p.T668N,NRCAM:NM_001371128:exon21:c.C2003A:p.T668N,NRCAM:NM_001371131:exon21:c.C2003A:p.T668N,NRCAM:NM_001371144:exon21:c.C2003A:p.T668N,NRCAM:NM_001371153:exon21:c.C2003A:p.T668N,NRCAM:NM_001371155:exon21:c.C1946A:p.T649N,NRCAM:NM_001371163:exon21:c.C1946A:p.T649N,NRCAM:NM_001371165:exon21:c.C1946A:p.T649N,NRCAM:NM_001371168:exon21:c.C2003A:p.T668N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0156689958831	.	0.000399361	9.074e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs544630338	3.627e-05	7.805e-05	2.616e-05	4.635e-05	0.0005	2.79e-05	2.518e-05	0.0004	0.0003	3.153e-05	0	0	0	0	0	3.852e-06	5.216e-05	0.0005	5.254e-05	5.25e-05	1.285e-05	9.401e-05	0.0015	2.556e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0015	0.16	0.34095	T	0.301	0.83351	T	0.029	0.42361	B	0.102	0.52749	B	0.002202	0.37012	N	0.318910	0.986267	0.40405	D	1.92	0.51302	L	0.35	0.58029	T	-2.44	0.55339	N	0.376	0.43899	-0.8051	0.54843	T	0.193	0.54652	T	10	0.09414357	0.16715	T	0.015669	0.36531	T	0.146	0.38789	0.396	0.42262	0.713903964261	0.71139	0.43443815680432457	0.43360	0.288365465645	0.31245	0.388576775789	0.23469	T	0.259413	0.63068	T	-0.394923	0.02499	T	-0.437464	0.29092	T	0.327694684267044	0.26132	T	0.921908	0.72135	D	0.093680754	0.22009	0.1178103	0.28439	0.093680754	0.22009	0.1178103	0.28439	-7.139	0.55093	T	.	.	0.16	0.36174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.304150	0.65746	24.9	0.99319114551936016	0.59317	0.90350	0.51456	D	AEFGBCI	0.485377	0.52500	N	0.313917721948727	0.56863	3.85174	0.363173863201166	0.59304	4.107218	0.999930177992464	0.46732	0.706548	0.73137	0	0.576064	0.32778	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	4.18	0.48473	3.361000	0.52028	7.498000	0.59452	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3871:0.0:0.6129:0.0	3.352	0.06738	680	0.59965	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	34	chr7	108189677	.	G	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=742;ExcessHet=0;FS=2.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.764;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	18	0	1	0
chr7	110663666	110663666	C	T	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon6:c.G464A:p.R155H,IMMP2L:NM_001244606:exon7:c.G464A:p.R155H,IMMP2L:NM_001350960:exon7:c.G464A:p.R155H,IMMP2L:NM_001350959:exon8:c.G464A:p.R155H,IMMP2L:NM_001350961:exon8:c.G548A:p.R183H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0129341773962	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0011	0.0001423	22	154602	rs536441357	8.643e-05	8.688e-05	5.598e-05	0.0001	0.0011	7.374e-05	6.922e-05	0.0009	0.0008	0	2.256e-05	0	5.064e-05	0	0.0002	1.983e-05	0.0001	0.0011	7.883e-05	7.875e-05	6.425e-05	9.406e-05	0.0015	4.495e-05	3.511e-05	0.0007	0.0005	2.408e-05	0	6.545e-05	0	0	0	0	4.41e-05	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.12	0.58754	M	.	.	.	-4.35	0.78976	D	0.296	0.71321	-0.2310	0.76861	T	0.432	0.77374	T	9	0.05882311	0.06975	T	0.012934	0.31926	T	0.569	0.82460	0.451	0.51285	0.604527667468	0.60136	0.7722794199078425	0.77177	0.702793909677	0.61229	0.521912515163	0.41895	T	0.561051	0.85306	D	0.0771713	0.61707	D	0.287634	0.87528	D	0.293434399252279	0.24733	T	0.953805	0.82399	D	0.7061095	0.78392	0.5856005	0.75968	0.7061095	0.78394	0.5856005	0.75969	-7.041	0.54332	T	.	.	0.911	0.84294	P	.;.;.;.	.;.;.;.	5.536701	0.91924	32	0.99918299205365524	0.98586	0.81062	0.40547	D	AEFI	0.572568	0.57609	D	0.693326663469311	0.79194	7.026713	0.675996653542634	0.80558	7.326048	0.736931907059772	0.23147	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.639000	0.54079	4.810000	0.45034	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.547	0.91001	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1155.33	33	chr7	110663666	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=707;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.674;SOR=0.571	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1183	18	0	1	0
chr7	110886666	110886666	T	C	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.A335G:p.K112R,IMMP2L:NM_001244606:exon6:c.A335G:p.K112R,IMMP2L:NM_001350960:exon6:c.A335G:p.K112R,IMMP2L:NM_001350959:exon7:c.A335G:p.K112R,IMMP2L:NM_001350961:exon7:c.A419G:p.K140R	.	420	1095	6	1	0	8	0.00363967	.	.	.	3208172	IMMP2L-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.088	.	.	0.00139776	0.0017	9.617e-05	0.0004	0	0	9.017e-05	0.0033	0.0114	0.0014165	219	154602	rs200836792	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	3.014e-05	0.0004	0	0	0	0.0010	9.616e-05	0.0011	0.0104	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	9.625e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0.0091	0.549	0.09514	T	0.749	0.23365	T	0.002	0.09854	B	0.012	0.16012	B	0.000013	0.62929	N	0.147879	0.976498	0.27063	N	0.415	0.12483	N	.	.	.	-0.22	0.10480	N	0.223	0.25006	-1.0695	0.09523	T	0.065	0.26983	T	9	0.009037107	0.00205	T	.	.	.	0.088	0.25558	.	.	0.3349148499	0.33108	0.33534223347946146	0.33447	0.11506021578	0.12980	0.315772652626	0.12780	T	0.087393	0.37932	T	-0.552624	0.00281	T	-0.557187	0.16642	T	0.0130221574993659	0.00227	T	0.788521	0.42806	T	0.05327822	0.10058	0.054215528	0.09283	0.05327822	0.10058	0.054215528	0.09283	-3.643	0.18481	T	.	.	0.083	0.09917	B	.;.;.;.	.;.;.;.	0.617529	0.09862	6.622	0.99194142721685719	0.55083	0.66508	0.33103	D	AEFI	0.160326	0.28625	N	-0.850501583370816	0.12038	0.5843677	-0.663273397227511	0.17882	0.952834	1.59830198516366E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.58	0.414	0.15624	0.668000	0.24808	0.446000	0.18474	-0.817000	0.03001	0.999000	0.42656	0.999000	0.35428	0.888000	0.42677	0.0:0.2617:0.0:0.7383	9.663	0.39132	639	0.64210	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07895	7832.79	34	chr7	110886666	.	T	C	7832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.03;DP=1192;ExcessHet=0.3672;FS=0.519;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.316;SOR=0.736	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2362,0,2034	16	0	3	0
chr7	111123211	111123211	A	G	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.A439G:p.I147V,LRRN3:NM_001099658:exon3:c.A439G:p.I147V,LRRN3:NM_001099660:exon4:c.A439G:p.I147V	.	430	1088	3	1	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00652400570951	.	.	2.481e-05	0	8.734e-05	0	0	1.502e-05	0	6.06e-05	3.23e-05	5	154602	rs746153863	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	2.239e-05	0	0	0	0.0009	1.619e-05	8.28e-05	3.478e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.136	0.27080	T	0.228	0.25286	T	0.0	0.02946	B	0.002	0.06944	B	0.021183	0.26883	N	0.314197	1	0.81001	D	0.31	0.10265	N	0.24	0.59583	T	-0.74	0.22944	N	0.09	0.07535	-0.9434	0.42073	T	0.128	0.43544	T	10	0.18544719	0.33966	T	0.006524	0.17186	T	0.060	0.17295	0.583	0.70990	0.322284741503	0.31843	0.44654892781066746	0.44572	0.191278487221	0.21457	0.359099060297	0.19254	T	0.016219	0.13452	T	-0.267144	0.12078	T	-0.524656	0.19824	T	0.0229466981281474	0.01017	T	0.762924	0.38892	T	0.044195365	0.07024	0.06406835	0.12785	0.044195365	0.07023	0.06406835	0.12785	-4.607	0.32260	T	.	.	0.067	0.04041	B	.;.;.;.	.;.;.;.	1.171721	0.15615	11.98	0.91605044954627712	0.20888	0.78091	0.38477	D	AEBI	0.162414	0.28859	N	-0.518018075605807	0.21496	1.141287	-0.370479741456749	0.25882	1.426095	8.50683645231582E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.16	1.3	0.20778	1.237000	0.32298	1.577000	0.27452	-0.050000	0.17177	0.945000	0.32849	0.228000	0.23763	0.996000	0.76049	0.6624:0.0:0.3376:0.0	9.766	0.39726	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2029.33	36	chr7	111123211	.	A	G	2029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=782;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.201;SOR=0.632	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	18	0	1	0
chr7	112337735	112337735	G	C	exonic	ZNF277	.	nonsynonymous SNV	ZNF277:NM_021994:exon9:c.G875C:p.W292S	.	435	1085	2	0	0	2	0.00092081	.	.	.	2342999	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.499	0.0456058614542	.	.	2.48e-05	0	0	0	0	4.507e-05	0	0	1.94e-05	3	154602	rs760372336	1.919e-05	1.984e-05	1.637e-05	2.204e-05	0.0019	1.331e-05	1.146e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.35e-05	3.317e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	0.77	0.49642	T	-11.85	0.99692	D	0.806	0.80180	-0.7823	0.56172	T	0.234	0.60087	T	10	0.8720745	0.86479	D	0.045606	0.62061	D	0.499	0.78288	.	.	0.536194329819	0.53270	0.6037837211665179	0.60309	0.677374921778	0.59825	0.658060789108	0.61132	T	0.298546	0.67110	T	0.20134	0.74016	D	0.181886	0.82105	D	0.977019011974335	0.71645	D	0.893711	0.63166	D	0.9699461	0.98255	0.9443921	0.98051	0.9699461	0.98255	0.9443921	0.98052	-13.828	0.92485	D	.	.	0.800	0.78299	P	.;.	.;.	5.472770	0.91291	32	0.9891789865080276	0.48491	0.99478	0.96523	D	AEFBI	0.920812	0.89335	D	0.749545862525416	0.82876	7.872159	0.792642956531206	0.89279	9.909584	0.999999999999825	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	9.368000	0.96553	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:1.0:0.0	20.349	0.98808	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	860.33	36	chr7	112337735	.	G	C	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=699;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.211;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1313	18	0	1	0
chr7	116250456	116250456	C	T	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon4:c.C662T:p.A221V,TES:NM_152829:exon4:c.C635T:p.A212V	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0003	0.0071885	0.0048	0	0	0.0297	0.0272	0.0015	0.0097	0.0005	0.0039456	610	154602	rs2272193	0.0028	0.0028	0.0029	0.0027	0.0510	0.0027	0.0027	0.0491	0.0484	9.299e-05	2.53e-05	0	0.0510	0.0260	0	0.0004	0.0024	0.0010	0.0036	0.0036	0.0023	0.0049	0.0324	0.0033	0.0032	0.0284	0.0269	7.218e-05	0	0	0	0.0324	0.0297	0	0.0007	0.0019	0.0015	0.007	0.61437	D	0.103	0.38305	T	0.009	0.15093	B	0.027	0.21085	B	0.024811	0.26197	N	0.360697	0.99947	0.81001	D	0.805	0.20218	L	0.13	0.60973	T	-1.42	0.34992	N	0.051	0.03175	-1.0713	0.09129	T	0.029	0.12673	T	10	0.0032298863	0.00055	T	.	.	.	0.215	0.50805	.	.	0.725170957636	0.72274	0.3878547132728783	0.38700	0.0680820293278	0.07622	0.287238270044	0.08522	T	0.289469	0.66226	T	-0.329013	0.06186	T	-0.195123	0.55108	T	0.0295455981582917	0.01919	T	0.775222	0.40690	T	0.07361721	0.16462	0.10485912	0.25194	0.07361721	0.16461	0.10485912	0.25194	-3.749	0.21493	T	.	.	0.082	0.11124	B	.;.	.;.	2.640216	0.34352	19.60	0.99810294881326356	0.89442	0.91276	0.53208	D	AEFBHCI	0.334969	0.43356	N	0.0298669107170779	0.43216	2.618975	0.12649873867184	0.45909	2.845826	0.999999991455389	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.683672	0.66515	0	.	.	5.39	5.39	0.77615	2.700000	0.46753	1.102000	0.24078	0.599000	0.40250	0.652000	0.28189	0.000000	0.08366	0.826000	0.38927	0.0:0.8584:0.1416:0.0	15.049	0.71519	721	0.55360	.;.	.	.	.	.	rs2272193	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	467.33	48	chr7	116250456	.	C	T	467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=669;ExcessHet=0;FS=6.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-2.089;SOR=0.184	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1186	18	0	1	0
chr7	116251764	116251764	G	A	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon5:c.G707A:p.C236Y,TES:NM_152829:exon5:c.G680A:p.C227Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.600257099369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490374897	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	-5.74	0.99311	D	-6.76	0.92736	D	0.836	0.96187	0.980	0.96855	D	0.988	0.99644	D	10	0.992793	0.99814	D	0.600257	0.96478	D	0.984	0.99918	0.957	0.99536	0.99310936875	0.99303	0.9178633397242868	0.91762	0.52805192639	0.50397	0.616737127304	0.55268	T	0.909799	0.98292	D	0.583388	0.97063	D	0.60022	0.97015	D	0.999000012874603	0.95858	D	0.890111	0.62362	D	0.88600963	0.90168	0.86841595	0.92756	0.88600963	0.90169	0.86841595	0.92756	-11.908	0.85703	D	.	.	0.996	0.95995	P	.;.	.;.	5.140066	0.86053	28.8	0.9567779986515792	0.27534	0.99689	0.98687	D	AEFBI	0.945836	0.95460	D	0.961212327174651	0.94421	12.74425	0.808947723895355	0.90408	10.39398	0.99999999999713	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	3.94	3.94	0.44807	9.248000	0.94623	8.840000	0.78299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.306	0.82679	722	0.55239	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Testin, LIM domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	939.33	35	chr7	116251764	.	G	A	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=2.07;SOR=0.679	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1233	18	0	1	0
chr7	117315153	117315153	C	T	exonic	WNT2	.	nonsynonymous SNV	WNT2:NM_003391:exon3:c.G506A:p.R169H	.	427	1094	1	0	0	1	0.00045683	.	.	.	2236777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.596	0.0709986840213	.	.	0.0002	0	0	0.0002	0	0.0002	0.0022	6.057e-05	0.0001552	24	154602	rs200665306	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	2.236e-05	0	7.557e-05	0.0002	0.0007	0.0002	0.0001	3.478e-05	7.879e-05	7.874e-05	8.994e-05	6.713e-05	0.0001	4.493e-05	3.51e-05	4.765e-05	3.339e-05	4.811e-05	0	6.538e-05	0	0	9.418e-05	0	0.0001	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.993	0.65571	D	0.932	0.66722	D	0.000002	0.62929	D	0.059928	0.997951	0.44355	D	2.965	0.85198	M	-1.2	0.78537	T	-3.68	0.70314	D	0.417	0.45709	0.420	0.89392	D	0.668	0.88493	D	10	0.75570786	0.75966	D	0.070999	0.71153	D	0.596	0.83965	0.737	0.86978	0.76563709835	0.76349	0.5030799607128912	0.50229	0.789483528885	0.65700	0.43928360939	0.30479	T	0.943403	0.99129	D	-0.129614	0.31557	T	-0.144523	0.59723	T	0.835567355155945	0.48969	D	0.979152	0.92740	D	0.6713239	0.76503	0.63981813	0.78961	0.6713239	0.76505	0.63981813	0.78961	-9.412	0.70310	D	.	.	0.118	0.24054	B	.	.	5.008927	0.83172	28.0	0.99929519301911718	0.99279	0.90552	0.51822	D	AEFBI	0.588829	0.58595	D	0.816072503930309	0.87100	9.103119	0.776337059423061	0.88105	9.45879	0.912909786652349	0.26408	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	3.066000	0.49695	7.711000	0.66806	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	20.096	0.97848	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1505.33	33	chr7	117315153	.	C	T	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=761;ExcessHet=0;FS=3.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.897;SOR=1.016	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	1	1481	40	0	0	40	0.0133245	.	.	YES	47455	not_provided|not_specified|Cystic_fibrosis|CFTR-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.009063	0.015152	0.002717	0.008772	0.050000	0.000000	0.003049	0.030303	0.02632	1409.33	34	chr7	117531068	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	117603561	117603561	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon17:c.C2687T:p.T896I	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	0	1521	1	0	0	1	0.000328623	.	.	.	544189	not_provided|not_specified|Cystic_fibrosis	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.497	0.0748795083164	.	.	3.301e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs752617117	2.326e-05	2.326e-05	1.498e-05	3.163e-05	0.0002	1.674e-05	1.478e-05	9.791e-05	7.838e-05	0	2.239e-05	0	0	0	0	1.529e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.65419	D	0.001	0.83351	D	0.0	0.02946	B	0.006	0.12133	B	0.018615	0.27444	N	0.441351	0.999997	0.08975	N	2.32	0.66415	M	-2.61	0.89953	D	-1.81	0.42575	N	0.879	0.87699	-0.2589	0.76118	T	0.594	0.85482	D	10	0.9093143	0.90297	D	0.07488	0.72151	D	0.497	0.78163	0.86	0.95774	0.98758593293	0.98745	0.6089609966571364	0.60828	0.00404585083658	0.00359	0.451978564262	0.32213	T	0.685322	0.90800	D	0.0736907	0.61294	D	0.049603	0.73557	D	0.197679758071899	0.20287	T	0.850115	0.53348	D	0.0865046	0.20109	0.071153805	0.15202	0.056815207	0.11226	0.094638556	0.22408	-5.418	0.41821	T	0.29351008086219	0.39029	0.138	0.46436	B	.;.;.;.;.	.;.;.;.;.	2.266433	0.28962	17.97	0.96279806970667192	0.29276	0.18841	0.20424	N	AEFBI	0.191067	0.31828	N	-0.281801305981121	0.29852	1.659121	-0.248043571346651	0.29838	1.675037	0.94740869377206	0.27751	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	1.796000	0.38428	4.911000	0.45953	0.549000	0.26987	0.402000	0.26186	1.000000	0.68203	0.032000	0.13371	0.2903:0.6341:0.0:0.0756	8.015	0.29535	852	0.35056	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1166.33	34	chr7	117603561	.	C	T	1166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.852;DP=703;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.092;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1381	18	0	1	0
chr7	117610521	117610521	G	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon19:c.G2991C:p.L997F	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	11	1491	20	0	0	20	0.00666223	.	.	YES	22268	Pancreatitis|Infertility_disorder|Obstructive_azoospermia|not_specified|.|.|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|not_provided|CFTR-related_disorder	Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MedGen:CN169374|.|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MedGen:C3661900|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.122468007951	0.0015	0.00179712	0.0021	0.0003	0.0033	0	0	0.0028	0.0056	0.0012	0.0020375	315	154602	rs1800111	0.0018	0.0018	0.0017	0.0019	0.0082	0.0017	0.0017	0.0063	0.0056	0.0004	0.0045	0.0057	2.523e-05	5.623e-05	0.0082	0.0017	0.0034	0.0014	0.0021	0.0021	0.0021	0.0021	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0058	0	0	0.0035	0.0024	0.0048	0.0013	0.053	0.45039	T	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999833	0.49637	D	1.825	0.47900	L	-2.52	0.89363	D	-1.01	0.26639	N	0.947	0.95491	0.205	0.85998	D	0.635	0.87219	D	10	0.02057156	0.00476	T	0.122468	0.80344	D	0.625	0.85511	0.73	0.86373	0.999745636659	0.99974	0.9270361156120207	0.92681	0.00453241386877	0.00400	0.589679062366	0.51448	T	0.585465	0.86490	D	-0.0673161	0.41755	T	0.138205	0.79429	D	0.0292856887522522	0.01880	T	0.964804	0.86967	D	0.6127058	0.73373	0.3455561	0.60236	0.64504117	0.75101	0.38016403	0.63054	-7.931	0.60599	D	0.6509694308403594	0.72309	0.741	0.74667	P	.;.;.;.;.	.;.;.;.;.	3.349901	0.46200	22.3	0.99856159323614746	0.93458	0.81794	0.41128	D	AEFDI	0.677697	0.64231	D	0.402658447996314	0.61569	4.35973	0.334515465865812	0.57580	3.924215	0.0440736209205392	0.14597	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.02	2.87	0.32523	1.651000	0.36918	3.812000	0.39914	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.957000	0.51019	0.3918:0.0:0.4021:0.2061	2.683	0.04782	853	0.34956	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010070	0.035354	0.008152	0.000000	0.000000	0.008621	0.015244	0.000000	0.02632	1351.33	33	chr7	117610521	.	G	C	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=804;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.68;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	18	0	1	0
chr7	117760606	117760606	G	A	exonic	CTTNBP2	.	nonsynonymous SNV	CTTNBP2:NM_001363349:exon10:c.C2947T:p.R983C,CTTNBP2:NM_001363350:exon10:c.C904T:p.R302C,CTTNBP2:NM_001363351:exon10:c.C904T:p.R302C,CTTNBP2:NM_033427:exon10:c.C3001T:p.R1001C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0453424139496	.	.	7.415e-05	0	8.649e-05	0	0	8.991e-05	0	0.0001	5.82e-05	9	154602	rs746196335	4.857e-05	4.925e-05	2.995e-05	6.738e-05	0.0002	3.926e-05	3.605e-05	0.0001	0.0001	5.975e-05	4.472e-05	0	0	0	0	4.227e-05	3.312e-05	0.0002	3.944e-05	3.938e-05	3.857e-05	4.035e-05	4.411e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	2.41e-05	0	0	0	0	0	0.0034	4.411e-05	0.0005	0	0.003	0.68238	D	0.014	0.62352	D	0.996	0.68779	D	0.708	0.54437	P	0.002701	0.36102	N	0.340042	0.999979	0.53665	D	2.695	0.78878	M	-0.23	0.66652	T	-1.42	0.34992	N	0.786	0.78262	-0.0546	0.81108	T	0.444	0.78118	T	10	0.77505493	0.77390	D	0.045342	0.61936	D	0.457	0.75551	0.55	0.66576	0.887497219877	0.88639	0.6639491779422291	0.66331	0.382340480175	0.39563	0.635876178741	0.57978	T	0.177029	0.52718	T	0.0988897	0.64173	D	0.200464	0.83154	D	0.267258932015646	0.23630	T	0.870713	0.57574	D	0.080461256	0.18436	0.08360214	0.19169	0.080461256	0.18436	0.08360214	0.19169	-3.748	0.20029	T	.	.	0.119	0.24396	B	.	.	5.236876	0.87916	29.4	0.9992061991000567	0.98721	0.95791	0.66169	D	AEFDBCIJ	0.816756	0.73841	D	0.741148210605627	0.82326	7.735394	0.726361958080759	0.84379	8.275853	0.999999999343034	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	5.310000	0.65568	5.964000	0.51876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.541	0.95268	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2144.33	33	chr7	117760606	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.645;DP=803;ExcessHet=0;FS=6.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.994;SOR=0.383	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	18	0	1	0
chr7	121124475	121124475	-	A	splicing	CPED1	NM_024913:exon8:c.1061+2->A;NM_001105533:exon7:c.1061+2->A	.	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00219649	0.0003	0.0031	0	0.0004	0	0	0	0.0001	0.0002305	6	26028	rs547003345	0.0001	0.0001	0.0002	0.0001	0.0046	0.0001	0.0001	0.0040	0.0037	0.0046	0.0001	0	0.0003	0	0.0002	4.881e-06	0.0005	4.994e-05	0.0010	0.0010	0.0011	0.0009	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0002	0	0.0016	0	0	0	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	376.29	20	chr7	121124475	.	T	TA	376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.08;SOR=0.725	GT:AD:DP:GQ:PL	0/0:39,0:39:75:0,75,1125	18	0	1	0
chr7	121339025	121339025	T	C	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon4:c.T748C:p.S250P,WNT16:NM_057168:exon4:c.T778C:p.S260P	.	432	1089	1	0	0	1	0.000458926	.	.	.	699784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.292	.	0.0065	0.00798722	0.0019	0.0184	0.0012	0	0	0.0002	0.0022	0.0001	0.0018952	293	154602	rs116444834	0.0008	0.0008	0.0009	0.0007	0.0201	0.0007	0.0007	0.0188	0.0183	0.0201	0.0021	0.0024	2.519e-05	1.872e-05	0.0021	0.0002	0.0017	4.637e-05	0.0056	0.0056	0.0059	0.0053	0.0186	0.0053	0.0051	0.0176	0.0171	0.0186	0	0.0027	0.0017	0	0	0.0034	0.0003	0.0038	0	0.249	0.32610	T	0.244	0.24123	T	0.91	0.57599	P	0.544	0.56482	P	0.060426	0.22248	N	0.507321	0.733068	0.33740	D	1.28	0.32218	L	-1.03	0.76430	T	-1.62	0.38924	N	0.596	0.61511	-0.3305	0.74119	T	0.236	0.60270	T	10	0.00790751	0.00179	T	.	.	.	0.292	0.61157	.	.	0.952290385028	0.95178	0.6416180409144595	0.64096	0.61427469815	0.55954	0.503136813641	0.39265	T	0.597861	0.87068	D	-0.34779	0.04868	T	-0.256758	0.49146	T	0.0286901607680245	0.01790	T	0.781422	0.41649	T	0.7489026	0.80804	0.65415776	0.79755	0.7489026	0.80806	0.65415776	0.79756	-5.528	0.42129	T	.	.	0.183	0.49363	B	.;.	.;.	3.718744	0.53126	23.3	0.99813015263516425	0.89708	0.77877	0.38344	D	AEFCI	0.678559	0.64288	D	0.291790615874691	0.55733	3.737303	0.359709852350816	0.59096	4.08452	0.999896980880728	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	1.168000	0.31468	7.926000	0.74773	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1459:0.8541	11.856	0.51715	803	0.44167	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1383.33	33	chr7	121339025	.	T	C	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=930;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.21;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:108,0:108:99:.:.:0,120,1800:.	18	0	1	0
chr7	122304185	122304185	T	C	exonic	FEZF1	.	nonsynonymous SNV	FEZF1:NM_001024613:exon1:c.A253G:p.S85G,FEZF1:NM_001160264:exon1:c.A253G:p.S85G	Hypogonadotropic hypogonadism 22, with or without anosmia, Autosomal recessive	412	1102	8	0	0	8	0.00361664	.	.	.	710735	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00159744	0.0063	0.0015	0.0016	0	0.0151	0.0080	0.0082	0.0056	0.0057114	883	154602	rs145467198	0.0073	0.0073	0.0075	0.0072	0.0083	0.0072	0.0072	0.0081	0.0081	0.0008	0.0021	0.0002	0	0.0115	0.0016	0.0083	0.0061	0.0046	0.0058	0.0058	0.0054	0.0062	0.0081	0.0054	0.0053	0.0075	0.0073	0.0011	0.0186	0.0014	0	0	0.0194	0.0068	0.0081	0.0057	0.0041	0.237	0.19639	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.04355	B	0.113183	0.19326	N	0.594923	1	0.08975	N	0.805	0.20218	L	3.26	0.06762	T	-1.04	0.29933	N	0.04	0.03069	-0.9668	0.37854	T	0.008	0.02884	T	10	0.0033794641	0.00059	T	.	.	.	0.033	0.08068	.	.	0.143124449307	0.13826	0.08257773273853848	0.08192	.	.	0.377162784338	0.21853	T	0.120079	0.44206	T	-0.687771	0.00043	T	-0.751317	0.03434	T	0.00615131357479197	0.00068	T	0.577142	0.20757	T	0.17279536	0.37990	0.053713486	0.09100	0.13977304	0.32274	0.053713486	0.09100	-3.813	0.20999	T	.	.	0.143	0.42621	B	.;.	.;.	1.709595	0.21770	15.34	0.83917002608794677	0.14993	0.52300	0.29099	D	AEFDBHCI	0.133340	0.25297	N	-0.43789162631349	0.24151	1.302128	-0.26752180921208	0.29174	1.632477	0.999985397465821	0.51787	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	3.46	0.38718	0.633000	0.24289	0.652000	0.20426	0.660000	0.55035	0.121000	0.23193	0.274000	0.24066	0.989000	0.64315	0.1306:0.0891:0.2014:0.5788	2.394	0.04117	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.005051	0.000000	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	2202.33	34	chr7	122304185	.	T	C	2202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=831;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.926;SOR=0.676	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1276	18	0	1	0
chr7	122702564	122702564	C	T	exonic	RNF148	.	nonsynonymous SNV	RNF148:NM_198085:exon1:c.G187A:p.G63R	.	.	.	.	.	.	.	.	.	.	.	2291334	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.0280262461798	.	.	8.299e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs755650827	1.848e-05	1.847e-05	1.362e-05	2.338e-05	6.956e-05	1.265e-05	1.085e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	1.799e-05	1.657e-05	6.956e-05	6.577e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.81	0.81869	M	2.55	0.13795	T	-6.77	0.92782	D	0.516	0.54671	-1.0476	0.15073	T	0.098	0.36600	T	9	0.63582945	0.68776	D	0.028026	0.50763	D	0.403	0.71636	0.751	0.88155	0.352476196916	0.34857	0.6629722194442985	0.66234	0.0169261038174	0.01637	0.7113083601	0.68782	T	0.443018	0.78697	T	0.0473803	0.58004	T	-0.169718	0.57469	T	0.982161402702332	0.74331	D	0.911409	0.68582	D	0.72261155	0.79307	0.6969798	0.82156	0.72261155	0.79308	0.6969798	0.82157	-10.816	0.78639	D	.	.	0.907	0.83245	P	.	.	5.235062	0.87878	29.4	0.99921554005855817	0.98787	0.98385	0.82238	D	AEFI	.	.	.	0.718180918959619	0.80823	7.380743	0.681653057370455	0.80986	7.422603	0.810181355103911	0.24341	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.4	4.46	0.53567	5.026000	0.63880	4.850000	0.45366	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.8588:0.1412:0.0	15.214	0.72936	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	35	chr7	122702564	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=820;ExcessHet=0;FS=5.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.551;SOR=0.429	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	341.33	30	chr7	123582083	.	T	C	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.909;DP=593;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.298;SOR=0.519	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	18	0	1	0
chr7	123596421	123596421	C	T	exonic	NDUFA5	.	nonsynonymous SNV	NDUFA5:NM_001291304:exon2:c.G16A:p.V6I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs185248872	0	0.0002	0	0	.	0	0	.	.	0	.	.	.	.	0	0	.	.	0.0033	0.0033	0.0036	0.0031	0.0052	0.0031	0.0030	0.0047	0.0045	0.0009	0	0.0034	0.0113	0	0.0018	0	0.0052	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	210.33	39	chr7	123596421	.	C	T	210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.294;DP=556;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=2.59;SOR=0.399	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,820	18	0	1	0
chr7	123616399	123616399	A	G	exonic	ASB15	.	nonsynonymous SNV	ASB15:NM_080928:exon4:c.A196G:p.K66E,ASB15:NM_001290258:exon6:c.A196G:p.K66E	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0084754779281	0.0011	0.000798722	0.0016	0.0004	0.0019	0	0	0.0017	0.0033	0.0027	0.0015006	232	154602	rs146389595	0.0012	0.0012	0.0011	0.0013	0.0139	0.0011	0.0011	0.0114	0.0105	0.0008	0.0015	0.0121	0	1.873e-05	0.0139	0.0007	0.0026	0.0030	0.0009	0.0009	0.0009	0.0009	0.0033	0.0008	0.0007	0.0021	0.0017	0.0002	0	0.0008	0.0118	0	0	0.0272	0.0007	0.0019	0.0033	0.892	0.30656	T	0.96	0.92824	T	0.332	0.33274	B	0.186	0.36104	B	0.000001	0.84330	D	0.000000	0.991962	0.41520	D	1.955	0.52871	M	2.45	0.52416	T	-0.72	0.30555	N	0.422	0.46928	-0.9451	0.41797	T	0.137	0.45260	T	10	0.008272409	0.00188	T	0.008475	0.22407	T	0.159	0.41286	.	.	0.623888465017	0.62083	0.33115366317917055	0.33028	0.195611412408	0.21904	0.442374646664	0.30901	T	0.00741	0.06818	T	-0.287075	0.09932	T	-0.188818	0.55701	T	0.0427459386873625	0.04190	T	0.79572	0.43862	T	0.21618117	0.44070	0.29316846	0.55345	0.21618117	0.44069	0.29316846	0.55344	-4.073	0.24891	T	.	.	0.18	0.54368	B	.;.;.;.;.;.	.;.;.;.;.;.	2.810219	0.36988	20.4	0.9963365777917903	0.76203	0.98045	0.79135	D	AEDIJ	0.838380	0.75590	D	0.240152028362037	0.53154	3.485585	0.385193605664805	0.60650	4.255098	0.99973891051268	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.182000	0.58107	7.922000	0.74576	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.682	0.77130	690	0.58899	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011604	0.000000	0.016304	0.011696	0.000000	0.043103	0.006173	0.003788	0.02632	1255.33	50	chr7	123616399	.	A	G	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.527;DP=902;ExcessHet=0;FS=7.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.349;SOR=0.291	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr7	123662148	123662148	G	C	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.G562C:p.A188P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.130250022939	0.0005	0.00199681	0.0002	0.0026	0	0	0	0	0	6.862e-05	0.0002329	36	154602	rs190331368	5.611e-05	5.609e-05	6.536e-05	4.677e-05	0.0021	4.611e-05	4.238e-05	0.0017	0.0015	0.0021	0	0	0	0	0.0003	0	0.0001	2.322e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0	0	0	0	0	0	0.0005	0	0.087	0.32453	T	0.23	0.25135	T	0.612	0.39723	P	0.261	0.39516	B	.	.	.	.	0.99041	0.41154	D	1.245	0.31408	L	-3.15	0.92938	D	-0.61	0.18042	N	0.226	0.25377	-0.1886	0.77963	T	0.506	0.81387	D	9	0.007363498	0.00167	T	0.13025	0.81240	D	0.435	0.74022	.	.	0.623449827247	0.62038	0.2677174066949757	0.26684	0.230222229105	0.25573	0.32165646553	0.13673	T	0.002162	0.01566	T	-0.228708	0.16819	T	-0.108084	0.62763	T	0.0281890556210216	0.01716	T	0.734227	0.35027	T	0.07103386	0.15694	0.14208621	0.33814	0.07103386	0.15694	0.14208621	0.33813	-2.858	0.08730	T	.	.	0.133	0.28636	B	.	.	1.687561	0.21502	15.23	0.99030458054395321	0.50786	0.46719	0.27822	N	AEFGBCI	0.398028	0.47387	N	-0.594028870437228	0.19126	0.9985122	-0.593581522162109	0.19659	1.055783	0.993971065078956	0.33434	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.08	2.91	0.32903	2.560000	0.45559	5.721000	0.49471	-0.169000	0.11342	0.971000	0.34370	1.000000	0.68203	0.944000	0.48669	0.1197:0.0:0.7306:0.1497	9.012	0.35308	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2474.33	38	chr7	123662148	.	G	C	2474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.011;DP=822;ExcessHet=0;FS=5.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.231;SOR=0.424	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1279	18	0	1	0
chr7	124032233	124032233	G	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C771G:p.F257L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0047950053786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.437	0.13441	T	0.183	0.29179	B	0.146	0.33945	B	.	.	.	.	0.568318	0.32272	D	0.8	0.19659	N	1.91	0.23283	T	0.19	0.04947	N	0.218	0.24385	-1.0411	0.16981	T	0.041	0.17785	T	9	0.13738275	0.26134	T	0.004795	0.11973	T	0.015	0.02232	0.289	0.24921	0.166414681773	0.16258	0.6202296138219102	0.61955	.	.	0.594847142696	0.52177	T	2.67E-4	0.00060	T	-0.19212	0.21947	T	-0.513744	0.20931	T	0.714289486408234	0.41411	D	0.711229	0.32236	T	0.16017962	0.35941	0.23218012	0.48370	0.16017962	0.35941	0.23218012	0.48369	-8.348	0.63418	D	.	.	0.787	0.76696	P	.	.	2.792649	0.36715	20.3	0.98503891405666033	0.42252	0.67896	0.33600	D	AEFBCI	0.275567	0.39050	N	-0.137778583365996	0.35756	2.057881	0.0436798405279419	0.41768	2.514843	0.991521895036836	0.32518	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.35	0.51454	0.130000	0.15676	6.391000	0.55559	0.676000	0.76740	0.976000	0.34826	1.000000	0.68203	0.999000	0.91618	0.1078:0.0:0.8922:0.0	9.959	0.40853	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	54.79	124	chr7	124032233	.	G	C	54.79	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.892;DP=1537;ExcessHet=0;FS=99.948;InbreedingCoeff=-0.0806;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=1.35;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0:72:0:.:.:0,0,1347:.	15	0	1	3
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	177.33	129	chr7	124032238	.	T	C	177.33	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-4.117;DP=1728;ExcessHet=0.3672;FS=117.616;InbreedingCoeff=-0.1339;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.11;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,26:129:32:.:.:0,32,1768:.	13	0	3	3
chr7	124032402	124032402	-	GCT	exonic	TMEM229A	.	nonframeshift insertion	TMEM229A:NM_001136002:exon1:c.601_602insAGC:p.Q200_R201insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	.	0.0062	0.0056	0	0.0592	0	0.0026	0	0.0070	0.0005951	92	154602	rs748700789	0.0027	0.0026	0.0026	0.0028	0.0272	0.0026	0.0026	0.0258	0.0252	0.0021	0.0020	0.0047	0.0272	0.0002	0.0022	0.0016	0.0045	0.0065	0.0035	0.0035	0.0033	0.0036	0.0384	0.0032	0.0031	0.0340	0.0323	0.0030	0	0.0022	0.0035	0.0384	0.0002	0.0034	0.0018	0.0033	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12566.5	50	chr7	124032402	.	C	CGCT	12566.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=957;ExcessHet=0.0278;FS=1.213;InbreedingCoeff=0.4154;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.43;ReadPosRankSum=-0.262;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr7	124851918	124851918	C	A	exonic	POT1	.	nonsynonymous SNV	POT1:NM_001042594:exon10:c.G510T:p.Q170H,POT1:NM_015450:exon11:c.G903T:p.Q301H	.	440	1081	1	0	0	1	0.000462321	.	.	.	457104	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tumor_predisposition_syndrome_3|POT1-related_disorder|Pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_8|Cerebroretinal_microangiopathy_with_calcifications_and_cysts_3	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618|.|MONDO:MONDO:0957263,MedGen:C5830496,OMIM:620367|MONDO:MONDO:0957264,MedGen:C5830497,OMIM:620368	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	0.0144066373101	0.0029	0.00159744	0.0026	0.0011	0.0013	0.0001	0.0041	0.0036	0.0023	0.0015	0.0027296	422	154602	rs116916706	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0057	0.0057	0.0009	0.0012	7.665e-05	0	0.0037	0.0002	0.0059	0.0054	0.0021	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0014	0	0.0014	0	0.0004	0.0035	0	0.0047	0.0038	0.0014	0.143	0.25355	T	0.057	0.46406	T	0.973	0.57599	D	0.77	0.56828	P	0.117501	0.19151	N	0.560758	0.999997	0.08975	N	2.65	0.77586	M	0.82	0.48142	T	-1.39	0.43149	N	0.229	0.33250	-0.8829	0.49529	T	0.143	0.46532	T	10	0.0039791167	0.00077	T	0.014407	0.34508	T	0.136	0.36778	0.252	0.19067	0.595301672115	0.59208	0.5165991918110379	0.51582	0.237661895385	0.26305	0.326851516962	0.14459	T	0.21509	0.57686	T	-0.460536	0.00976	T	-0.431276	0.29791	T	0.0174436964394395	0.00481	T	0.606339	0.22814	T	0.03864433	0.05189	0.040631518	0.04436	0.041615646	0.06161	0.048539113	0.07229	-4.019	0.24087	T	0.1863759991736207	0.24255	0.126	0.26700	B	.;.	.;.	1.062284	0.14442	11.01	0.98493922337933948	0.42132	0.11385	0.16599	N	AEFBI	0.074043	0.14829	N	-0.578567553959384	0.19596	1.026869	-0.783961302408964	0.14888	0.7802644	6.56076162446506E-5	0.04366	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	-0.749	0.10525	-0.073000	0.11428	-1.233000	0.05954	-0.930000	0.02149	0.009000	0.18154	0.000000	0.08366	0.725000	0.34934	0.0:0.563:0.0:0.437	9.597	0.38745	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	706.33	33	chr7	124851918	.	C	A	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.255;SOR=0.748	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	18	0	1	0
chr7	127582399	127582399	G	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon2:c.C1943A:p.A648D	.	416	1103	3	0	0	3	0.00135808	.	.	.	2463439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0061009152296	.	.	5.767e-05	0	0	0.0008	0	0	0	0	5.17e-05	8	154602	rs369410656	1.437e-05	1.505e-05	1.089e-05	1.788e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.775e-05	0	0	0	0.0002	0	0	5.396e-06	6.623e-05	2.319e-05	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.113	0.28772	T	0.347	0.17640	T	0.013	0.16609	B	0.01	0.14941	B	0.107107	0.19585	N	0.577345	0.822982	0.28858	N	0.895	0.22405	L	2.64	0.12780	T	-0.02	0.07299	N	0.25	0.28264	-0.9934	0.31722	T	0.023	0.09832	T	10	0.041832447	0.02875	T	0.006101	0.15964	T	0.035	0.08770	0.168	0.07302	0.353974658523	0.35008	0.3075566513504303	0.30668	0.447137084831	0.44575	0.429968684912	0.29205	T	0.008608	0.07893	T	-0.490316	0.00647	T	-0.599351	0.12866	T	0.0172010062683889	0.00463	T	0.810019	0.46084	T	0.12643975	0.29614	0.1427505	0.33949	0.12643975	0.29614	0.1427505	0.33948	-4.509	0.31006	T	.	.	0.17	0.37369	B	.	.	1.693580	0.21574	15.26	0.86890709060445637	0.16843	0.94370	0.60949	D	AEFDGBHCI	0.199711	0.32649	N	-0.705079941561852	0.15878	0.8041574	-0.650714094563456	0.18199	0.9711246	0.999996507909481	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.49	2.64	0.30504	1.507000	0.35365	3.886000	0.40267	0.676000	0.76740	0.965000	0.33920	1.000000	0.68203	0.016000	0.10718	0.078:0.4198:0.5022:0.0	9.237	0.36636	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1950.33	33	chr7	127582399	.	G	T	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.035;DP=840;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.55;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.07895	6862.79	43	chr7	127584383	.	C	T	6862.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.111;DP=1094;ExcessHet=0.3672;FS=1.096;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.496;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	16	0	3	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	2047.83	35	chr7	127598540	.	C	T	2047.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=794;ExcessHet=0.119;FS=1.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.872;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	17	0	2	0
chr7	128030354	128030354	C	T	exonic	LRRC4	.	nonsynonymous SNV	LRRC4:NM_022143:exon2:c.G287A:p.R96H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.10976006283	.	.	6.604e-05	0	8.649e-05	0	0	1.502e-05	0	0.0004	5.17e-05	8	154602	rs746701145	3.284e-05	3.283e-05	1.089e-05	5.501e-05	0.0005	2.543e-05	2.249e-05	0.0004	0.0003	0	2.236e-05	0	0	1.878e-05	0	8.993e-07	3.312e-05	0.0005	5.913e-05	5.906e-05	6.425e-05	5.376e-05	0.0012	3.077e-05	2.21e-05	0.0005	0.0004	7.221e-05	0	0	0	0	0	0	0	0	0.0012	0.028	0.46129	D	0.009	0.66756	D	0.993	0.65571	D	0.805	0.58399	P	0.003325	0.35096	N	0.179258	1	0.81001	D	1.085	0.27262	L	-2.85	0.91363	D	-2.02	0.46503	N	0.354	0.39558	0.310	0.87722	D	0.664	0.88321	D	10	0.29379004	0.46952	T	0.10976	0.78686	D	0.491	0.77783	0.524	0.62818	0.830267681785	0.82865	0.5239092838062303	0.52314	1.4107314142	0.85442	0.732805132866	0.71916	T	0.181739	0.53351	T	-0.117919	0.33463	T	-0.0709002	0.65562	T	0.32429713010788	0.25995	T	0.957304	0.83911	D	0.32489923	0.55050	0.07498792	0.16460	0.32489923	0.55050	0.07498792	0.16460	-7.034	0.54281	T	.	.	0.128	0.27433	B	.;.	.;.	5.251680	0.88174	29.5	0.99913620999250408	0.98238	0.82096	0.41377	D	AEFDBCI	0.605923	0.59646	D	0.292362714074468	0.55761	3.740214	0.290316432693065	0.54972	3.660936	0.999999997722759	0.74766	0.789315	0.99827	0	0.519925	0.08708	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	4.66	3.75	0.42236	2.242000	0.42756	4.940000	0.46203	0.599000	0.40250	0.911000	0.31706	1.000000	0.68203	1.000000	0.97212	0.1797:0.8202:0.0:0.0	11.576	0.50119	704	0.57414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2149.33	41	chr7	128030354	.	C	T	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=817;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=2.37;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	18	0	1	0
chr7	128321277	128321277	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon10:c.C1129T:p.R377C,RBM28:NM_018077:exon14:c.C1552T:p.R518C	.	0	1518	4	0	0	4	0.00131579	.	.	.	722291	not_provided|RBM28-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.0277910305922	0.0022	0.000199681	0.0020	0.0005	0.0007	0.0001	0.0005	0.0032	0	0.0010	0.0021798	337	154602	rs138112810	0.0032	0.0032	0.0033	0.0031	0.0038	0.0031	0.0031	0.0037	0.0037	0.0006	0.0006	0.0064	0	0.0006	0	0.0038	0.0022	0.0008	0.0018	0.0018	0.0020	0.0016	0.0031	0.0016	0.0016	0.0028	0.0027	0.0006	0	0.0003	0.0072	0	0.0004	0	0.0031	0.0005	0.0004	0.001	0.78490	D	0.014	0.62352	D	0.999	0.77913	D	0.91	0.64641	D	0.000006	0.62929	D	0.109289	1	0.81001	D	2.58	0.75369	M	1.25	0.36512	T	-3.18	0.72240	D	0.435	0.47395	-0.6649	0.62059	T	0.228	0.59258	T	10	0.010328591	0.00230	T	0.027791	0.50556	D	0.176	0.44373	.	.	0.521122704751	0.51755	0.5818606474319651	0.58115	0.666767740789	0.59216	0.368247568607	0.20580	T	0.130224	0.45899	T	-0.257917	0.13145	T	-0.133862	0.60645	T	0.0474579261983287	0.05047	T	0.872513	0.58047	D	0.23148973	0.45922	0.20272063	0.44315	0.25579935	0.48616	0.19872774	0.43718	-7.365	0.59375	T	.	.	0.104	0.21950	B	.;.	.;.	4.686874	0.75062	26.3	0.99930919187998501	0.99387	0.96526	0.69580	D	AEFDBI	0.557643	0.56719	D	0.588827567801244	0.72476	5.811861	0.617063125324803	0.76178	6.443471	0.999995914863677	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	3.892000	0.55947	1.503000	0.26970	0.656000	0.54149	1.000000	0.71638	0.002000	0.18203	0.979000	0.57723	0.0:0.0:1.0:0.0	17.383	0.87299	645	0.63593	RNA recognition motif domain|RNA recognition motif domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1158.33	43	chr7	128321277	.	G	A	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=778;ExcessHet=0;FS=1.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.94;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr7	128337176	128337176	C	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon2:c.G145A:p.V49M,RBM28:NM_018077:exon6:c.G568A:p.V190M	.	.	.	.	.	.	.	.	.	.	.	3586019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.105245624481	.	.	4.118e-05	0	8.637e-05	0	0	2.997e-05	0	0.0001	3.23e-05	5	154602	rs756076073	3.352e-05	3.42e-05	2.178e-05	4.538e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	0	8.944e-05	0	2.519e-05	0	0.0002	1.709e-05	6.624e-05	0.0002	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.006	0.72154	D	0.009	0.70582	D	0.996	0.68779	D	0.874	0.62049	P	0.000035	0.55875	D	0.122178	0.999973	0.53665	D	1.35	0.33515	L	-2.9	0.91643	D	-2.14	0.51157	N	0.632	0.64563	0.881	0.95414	D	0.858	0.95258	D	10	0.32484144	0.49802	T	0.105246	0.78026	D	0.157	0.40909	0.308	0.27967	0.988034867267	0.98790	0.30961620595165934	0.30874	0.609432728361	0.55677	0.507495105267	0.39872	T	0.02965	0.21200	T	-0.00783527	0.50566	T	-0.0233295	0.68809	D	0.309759882887339	0.25404	T	0.924008	0.72230	D	0.15706284	0.35411	0.17447166	0.39845	0.15706284	0.35410	0.17447166	0.39844	-8.887	0.66966	D	.	.	0.380	0.67403	A	.;.;.	.;.;.	4.861002	0.79544	27.1	0.99892894189072501	0.96666	0.95748	0.65986	D	AEFBI	0.342750	0.43880	N	0.710365724197165	0.80311	7.266556	0.688139914106594	0.81479	7.536025	0.99999999809373	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	3.858000	0.55690	5.896000	0.50824	0.594000	0.32500	0.997000	0.40164	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.749	0.85341	647	0.63344	RNA recognition motif domain;.;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1750.33	33	chr7	128337176	.	C	T	1750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=759;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.158;SOR=0.423	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr7	128338331	128338331	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon5:c.C460T:p.R154C	.	.	.	.	.	.	.	.	.	.	.	3308967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0618641191902	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1021866048	3.558e-05	3.694e-05	2.996e-05	4.126e-05	4.498e-05	2.763e-05	2.502e-05	3.46e-05	3.122e-05	0	0	0	0	0	0	4.498e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.001	0.78490	D	0.064	0.44905	T	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.054939	1	0.81001	D	2.365	0.68172	M	-1.14	0.77843	T	-3.37	0.66665	D	0.903	0.90363	0.184	0.85634	D	0.617	0.86485	D	10	0.77461773	0.77357	D	0.061864	0.68469	D	0.296	0.61616	0.688	0.82558	0.996474981319	0.99643	0.7033894068741093	0.70279	0.715226903823	0.61935	0.806517601013	0.82958	D	0.037676	0.24563	T	0.363529	0.87522	D	0.284408	0.87361	D	0.992219865322113	0.82641	D	0.914708	0.98649	D	0.4379297	0.63268	0.40584916	0.64974	0.4379297	0.63269	0.40584916	0.64974	-11.565	0.82668	D	.	.	0.37	0.64740	A	.;.	.;.	5.885746	0.93947	33	0.99910765808933366	0.98022	0.96446	0.69180	D	AEFBI	0.736665	0.68210	D	0.802309994997942	0.86249	8.825412	0.793937445219644	0.89366	9.946371	0.999999456355312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	6.481000	0.73517	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.397	0.87339	647	0.63344	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1023.33	33	chr7	128338331	.	G	A	1023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=719;ExcessHet=0;FS=1.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.68;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	0	1	0
chr7	128351623	128351623	C	T	exonic	PRRT4	.	nonsynonymous SNV	PRRT4:NM_001174164:exon6:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.624149122672	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs767583454	2.721e-05	2.805e-05	1.885e-05	3.581e-05	0.0003	2.008e-05	1.753e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.672e-06	0.0001	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.039	0.42487	D	0.027	0.55341	D	0.989	0.62824	D	0.554	0.49340	P	.	.	.	.	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.93	0.24898	N	0.113	0.10340	-1.0599	0.11781	T	0.072	0.29291	T	8	0.13719025	0.26098	T	0.624149	0.96754	D	0.175	0.44197	0.249	0.18602	0.0762999501168	0.06990	0.14860101575701043	0.14782	.	.	0.840235710144	0.88130	D	0.002157	0.01556	T	-0.349278	0.04773	T	-0.460055	0.26594	T	0.159578132194354	0.17841	T	0.622038	0.23930	T	0.18244	0.39464	0.29339913	0.55368	0.18244	0.39463	0.29339913	0.55367	-3.857	0.21659	T	.	.	0.082	0.08997	B	.;.	.;.	3.861116	0.56000	23.7	0.99801270764717298	0.88639	0.77735	0.38256	D	AEFDBCI	.	.	.	0.190749073456365	0.50756	3.262562	0.22112187037365	0.51020	3.288341	0.999999954084754	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.73	3.73	0.41982	0.588000	0.23626	7.156000	0.57690	0.512000	0.23348	0.001000	0.13787	1.000000	0.68203	0.937000	0.47636	0.0:1.0:0.0:0.0	13.405	0.60352	639	0.64210	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	390.33	21	chr7	128351623	.	C	T	390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=518;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.47;SOR=0.904	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,877	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:245,0:245:0:.:.:0,0,6366:.	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:245,0:245:0:.:.:0,0,6366:.	3	0	9	7
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H,CCDC136:NM_022742:exon4:c.G652C:p.D218H,CCDC136:NM_001363423:exon5:c.G802C:p.D268H,CCDC136:NM_001367761:exon5:c.G802C:p.D268H,CCDC136:NM_001367763:exon5:c.G802C:p.D268H,CCDC136:NM_001367764:exon5:c.G802C:p.D268H,CCDC136:NM_001367765:exon5:c.G652C:p.D218H	.	430	1075	17	0	0	17	0.00784495	.	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.010870	0.002924	0.000000	0.025862	0.006098	0.015152	0.02632	1145.33	38	chr7	128801491	.	G	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.029;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R,CCDC136:NM_001367764:exon16:c.G3088A:p.G1030R	.	422	1082	17	1	0	19	0.00870362	.	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.020202	0.012228	0.002924	0.000000	0.025862	0.009146	0.015152	0.02632	1262.33	33	chr7	128814812	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=717;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.18;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	18	0	1	0
chr7	128840575	128840575	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.G1577A:p.R526Q,FLNC:NM_001458:exon10:c.G1577A:p.R526Q	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	190795	not_specified|not_provided|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.199	.	0.0014	0.00299521	0.0023	0.0010	0.0007	0	0	0.0012	0.0011	0.0108	0.0021927	339	154602	rs34932223	0.0022	0.0022	0.0019	0.0025	0.0096	0.0021	0.0021	0.0091	0.0089	0.0012	0.0016	0	0	0.0001	0.0016	0.0019	0.0020	0.0096	0.0016	0.0016	0.0017	0.0015	0.0085	0.0014	0.0014	0.0064	0.0057	0.0008	0	0.0020	0	0	0.0006	0	0.0019	0.0009	0.0085	0.044	0.41096	D	0.245	0.24054	T	0.027	0.19556	B	0.015	0.17295	B	0.241004	0.15711	N	0.620373	1	0.08975	N	1.135	0.28956	L	-1.84	0.84195	D	-1.35	0.33598	N	0.314	0.36359	-0.6014	0.64759	T	0.389	0.74394	T	10	0.0068624616	0.00156	T	.	.	.	0.199	0.48268	.	.	0.426039362998	0.42221	0.32783013417972684	0.32696	0.319035525961	0.34116	0.35458356142	0.18594	T	0.357542	0.72423	T	-0.402556	0.02228	T	-0.343059	0.39998	T	0.00742864542466097	0.00086	T	0.836416	0.50788	T	0.04008348	0.05657	0.059511866	0.11181	0.041022338	0.05964	0.059008688	0.11001	-5.347	0.40406	T	0.1896189704614919	0.24810	0.076	0.07793	B	.;.	.;.	2.499507	0.32263	18.99	0.99504341911348548	0.68206	0.21797	0.21527	N	AEFDBHCI	0.101347	0.20358	N	-0.719623274724168	0.15470	0.7799423	-0.611670608056233	0.19194	1.028686	0.999994398205015	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	4.41	0.52588	0.487000	0.22064	5.217000	0.47986	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.763000	0.36255	0.1663:0.0:0.8337:0.0	10.703	0.45131	626	0.65439	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	967.33	34	chr7	128840575	.	G	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.591;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1308	18	0	1	0
chr7	128840597	128840597	C	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.C1599A:p.F533L,FLNC:NM_001458:exon10:c.C1599A:p.F533L	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	522191	Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5	MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.561	0.225611873828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.052	0.47581	T	0.007	0.36066	B	0.037	0.41496	B	0.000146	0.49130	D	0.179643	0.566258	0.31215	N	2.02	0.55341	M	-1.89	0.84557	D	-4.59	0.78891	D	0.562	0.61087	0.005	0.82365	D	0.545	0.83275	D	10	0.70769966	0.72843	D	0.225612	0.88005	D	0.561	0.82003	0.736	0.86892	0.720276925624	0.71780	0.6311246090506598	0.63046	0.505908923053	0.48822	0.684431791306	0.64905	T	0.761294	0.93536	D	0.0380189	0.56784	T	-0.183165	0.56227	T	0.993342578411102	0.84107	D	0.957071	0.83814	D	0.5806065	0.71641	0.5464195	0.73780	0.5806065	0.71642	0.5464195	0.73780	-5.814	0.44696	T	0.2916281134842688	0.38824	0.821	0.80123	P	.;.	.;.	1.861132	0.23640	16.10	0.99529815627263674	0.69777	0.38148	0.25923	N	AEFDBHCI	0.283580	0.39665	N	-0.654066157961777	0.17341	0.8915608	-0.703008058312116	0.16886	0.895362	0.999975663744341	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	-2.84	0.05408	-1.039000	0.03660	-3.401000	0.02815	-0.813000	0.03045	0.009000	0.18154	0.000000	0.08366	0.889000	0.42754	0.0:0.3995:0.0:0.6005	12.454	0.55033	626	0.65439	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	34	chr7	128840597	.	C	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.941;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.116;SOR=0.708	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1308	18	0	1	0
chr7	128844965	128844965	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon21:c.G3500A:p.R1167H,FLNC:NM_001458:exon21:c.G3500A:p.R1167H	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	225	0	1	0	2	0.00442478	.	.	.	833046	Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_provided	MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.329	0.08289479312	.	0.000199681	1.662e-05	0.0001	0	0	0	1.505e-05	0	0	1.94e-05	3	154602	rs574074583	1.095e-05	1.094e-05	6.808e-06	1.513e-05	0.0002	6.48e-06	5.25e-06	6.52e-06	5.03e-06	2.987e-05	0	0	0	0	0.0002	1.169e-05	0	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	2.939e-05	5.23e-06	2.45e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.939e-05	0	0	0.335	0.12920	T	0.161	0.31326	T	0.015	0.65571	B	0.014	0.61978	B	0.000010	0.62929	D	0.061394	0.90334	0.36225	D	1.14	0.29013	L	-2.88	0.91533	D	-1.72	0.42191	N	0.22	0.25377	0.256	0.86851	D	0.669	0.88508	D	10	0.14908987	0.28221	T	0.082895	0.73998	D	0.329	0.65126	.	.	0.807189353503	0.80538	0.2922678147816797	0.29139	0.360697941279	0.37734	0.589887738228	0.51478	T	0.433589	0.78097	T	-0.0876558	0.38461	T	-0.18216	0.56323	T	0.301628530025482	0.25071	T	0.69953	0.31049	T	0.086337075	0.20063	0.046937663	0.06651	0.086337075	0.20063	0.046937663	0.06651	-6.449	0.50410	T	0.1798978336925167	0.23126	0.071	0.03849	B	.;.	.;.	4.611068	0.73122	25.9	0.99186806470744227	0.54848	0.94426	0.61127	D	AEFBCI	0.490430	0.52791	N	0.00103235339715214	0.41903	2.514784	0.116020557208677	0.45367	2.801185	0.999990041750193	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.645312	0.48771	0	0.733575	0.97253	0	.	.	5.56	4.68	0.58319	3.060000	0.49648	7.687000	0.65600	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.667000	0.33166	0.2228:0.0:0.7772:0.0	8.898	0.34638	593	0.68665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2345.33	181	chr7	128844965	.	G	A	2345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.3;DP=949;ExcessHet=0;FS=4.381;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.04;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr7	128850057	128850057	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.G5281A:p.A1761T	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	456640	not_specified|not_provided|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Myofibrillar_myopathy_5|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0675341140394	8.2e-05	.	0.0003	0	0	0	0	0	0	0.0006	4.53e-05	7	154602	rs376023896	5.038e-05	5.131e-05	3.414e-05	6.701e-05	0.0004	4.061e-05	3.724e-05	0.0003	0.0003	9.431e-05	5.544e-05	0	8.318e-05	0	0.0004	1.665e-05	0.0001	0.0004	2.627e-05	2.625e-05	0	5.374e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.396	0.10623	T	0.408	0.14633	T	0.0	0.02946	B	0.0	0.01387	B	0.601199	0.05647	N	1.256630	1	0.22259	N	0	0.06538	N	-1.92	0.84773	D	-0.25	0.11008	N	0.089	0.06720	-0.8570	0.51477	T	0.281	0.65299	T	10	0.02578628	0.00762	T	0.067534	0.70193	D	0.205	0.49236	.	.	0.313793572803	0.30980	0.14684337731535502	0.14606	0.268453480664	0.29359	0.507365942001	0.39854	T	0.124825	0.45012	T	-0.457854	0.01014	T	-0.579296	0.14607	T	0.0175503277345762	0.00489	T	0.268573	0.04475	T	0.018550621	0.00377	0.035805933	0.02901	0.018550621	0.00376	0.035805933	0.02901	-4.216	0.26983	T	.	.	0.066	0.02145	B	.	.	-0.072174	0.03811	0.809	0.87569532218085455	0.17322	0.01571	0.05128	N	AEFBI	0.034719	0.04350	N	-1.36752715358219	0.02947	0.1309225	-1.35977112992375	0.03692	0.1727444	0.943335914867353	0.27564	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	-3.82	0.04000	-2.434000	0.01097	-1.022000	0.06576	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	0.4396:0.1157:0.4447:0.0	7.454	0.26427	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	36	chr7	128850057	.	G	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.068;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.72;SOR=0.637	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1293	18	0	1	0
chr7	128853721	128853721	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon38:c.C6269T:p.P2090L,FLNC:NM_001458:exon39:c.C6368T:p.P2123L	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.812660111263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	-4.01	0.96370	D	-8.06	0.96621	D	0.974	0.98466	1.085	0.99032	D	0.968	0.98979	D	10	0.9804003	0.98011	D	0.81266	0.98540	D	0.981	0.99874	0.855	0.95491	0.967286372181	0.96693	0.8803126068890481	0.87999	1.75556076404	0.91035	0.900573730469	0.96504	D	0.929368	0.98794	D	0.561595	0.96267	D	0.568916	0.96208	D	0.999396562576294	0.97233	D	0.995075	0.98330	D	0.7097944	0.78596	0.70031816	0.82343	0.7097944	0.78597	0.70031816	0.82344	-14.449	0.94424	D	0.6714964108597865	0.74650	0.894	0.86205	P	.;.	.;.	5.045797	0.84013	28.2	0.99925104144674715	0.99042	0.95699	0.65780	D	AEFBCI	0.929264	0.91475	D	1.04725334880132	0.97025	15.47799	0.936140470048611	0.96963	15.39058	0.999999999999989	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.879000	0.85694	7.646000	0.63445	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.823	0.92070	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1848.33	35	chr7	128853721	.	C	T	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=768;ExcessHet=0;FS=6.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.92;SOR=0.881	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	18	0	1	0
chr7	128880499	128880499	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon34:c.C3646T:p.R1216C	.	423	1098	1	0	0	1	0.000455166	.	.	.	3265113	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.337e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs748320181	3.276e-05	3.42e-05	3.429e-05	3.116e-05	0.0001	2.497e-05	2.229e-05	7.908e-05	6.154e-05	0	0	0	0	0	0	3.199e-05	0	0.0001	3.285e-05	3.283e-05	0	6.724e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	0.038	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.43223	.	.	.	.	.	.	.	0.22268757	0.39027	T	.	.	.	.	.	.	.	0.315314060047	0.31143	0.37236553569475545	0.37150	.	.	0.342408001423	0.16798	T	0.182085	0.53397	T	0.00519646	0.52368	T	0.0179969	0.71500	D	.	.	.	0.828517	0.58964	T	0.1740426	0.38186	0.16750781	0.38640	0.1740426	0.38186	0.16750781	0.38639	-13.048	0.89560	D	.	.	0.209	0.50380	B	.;.;.	.;.;.	4.812487	0.78303	26.9	0.78227654183684781	0.12210	0.92264	0.55313	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999994240565317	0.74766	0.13384	0.03154	2	0.27691	0.05143	1	0.108573	0.03145	0	0.057841	0.00900	0	0.204125	0.30647	4.68	2.78	0.31702	2.362000	0.43823	5.711000	0.49424	-0.148000	0.12190	0.916000	0.31843	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.6807:0.3193	11.778	0.51267	566	0.70798	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	904.33	35	chr7	128880499	.	G	A	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=826;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.73;SOR=0.387	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr7	128890943	128890943	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon20:c.C2126T:p.A709V,KCP:NM_199349:exon20:c.C2126T:p.A709V	.	324	1166	27	5	0	37	0.0156184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	0	.	.	0	.	0	0.0006921	107	154602	rs142146217	0.0078	0.0064	0.0077	0.0079	0.0236	0.0077	0.0076	0.0192	0.0175	0.0044	0.0063	0.0050	0	0.0041	0.0236	0.0082	0.0079	0.0053	0.0071	0.0071	0.0075	0.0067	0.0098	0.0067	0.0066	0.0091	0.0089	0.0041	0.0186	0.0065	0.0046	0.0002	0.0049	0.0274	0.0098	0.0100	0.0064	.	.	.	0.047	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.26111	.	.	.	.	.	.	.	0.0073870122	0.00168	T	.	.	.	.	.	.	.	0.343334270461	0.33943	0.2254635075436212	0.22461	.	.	0.637730777264	0.58241	T	0.023234	0.17773	T	-0.238041	0.15600	T	-0.108592	0.62724	T	.	.	.	0.516848	0.16688	T	0.053548023	0.10148	0.22741485	0.47750	0.053548023	0.10147	0.22741485	0.47749	-9.267	0.69400	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.598436	0.33719	19.42	0.97280268731145969	0.33181	0.65780	0.32852	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999948015	0.74766	0.110573	0.02883	0	0.166317	0.03975	0	0.119651	0.03204	0	0.109499	0.03221	0	0.961317	0.65959	4.15	4.15	0.47978	1.230000	0.32214	1.427000	0.26414	0.483000	0.22176	0.006000	0.17386	0.012000	0.20211	0.688000	0.33778	0.0:0.0:1.0:0.0	14.299	0.65887	546	0.72524	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026611	0.031250	0.084746	0.011236	0.000000	0.000000	0.006410	0.039474	0.02632	270.33	25	chr7	128890943	.	G	A	270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.544;DP=428;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.507;SOR=1.802	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	18	0	1	0
chr7	128891497	128891497	-	CTC	exonic	KCP	.	nonframeshift insertion	KCP:NM_001366122:exon18:c.1831_1832insGAG:p.G610_A611insG,KCP:NM_199349:exon18:c.1831_1832insGAG:p.G610_A611insG	.	413	1096	13	0	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00239617	0.0075	0.0008	0.0042	0	0.0063	0.0180	0	0.0013	0.0016136	42	26028	rs140670582	0.0094	0.0090	0.0095	0.0092	0.0160	0.0092	0.0092	0.0133	0.0123	0.0017	0.0054	0.0164	2.799e-05	0.0026	0.0160	0.0107	0.0085	0.0016	0.0073	0.0073	0.0077	0.0069	0.0115	0.0070	0.0068	0.0108	0.0105	0.0016	0.0175	0.0084	0.0193	0	0.0015	0.0136	0.0115	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011927	0.021505	0.013793	0.007937	0.000000	0.022727	0.005263	0.000000	0.02632	1452.29	66	chr7	128891497	.	G	GCTC	1452.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.099;DP=741;ExcessHet=0;FS=0.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22;ReadPosRankSum=1.64;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1004	18	0	1	0
chr7	130308381	130308381	G	A	exonic	CPA4	.	stopgain	CPA4:NM_001163446:exon7:c.G678A:p.W226X,CPA4:NM_016352:exon8:c.G777A:p.W259X	.	421	1100	1	0	0	1	0.000454339	.	.	.	699850	not_provided|CPA4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0032	0.000798722	0.0023	0.0008	0.0014	0	0.0006	0.0034	0.0022	0.0018	0.002542	393	154602	rs145012020	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0006	0.0015	0.0040	0	0.0009	0.0012	0.0043	0.0031	0.0024	0.0025	0.0025	0.0027	0.0022	0.0039	0.0023	0.0022	0.0035	0.0033	0.0008	0	0.0026	0.0040	0	0.0008	0	0.0039	0.0038	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.268	0.30914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223232	0.76082	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	10.585349	0.99796	48	0.99349368427856977	0.60533	0.80547	0.40156	D	AEFDBCI	0.178298	0.30556	N	0.949683584541972	0.93972	12.40885	0.839465570298625	0.92385	11.39654	0.98994464690964	0.31984	0.693126	0.56070	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.139000	0.76905	11.801000	0.96654	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	17.566	0.87816	611	0.66908	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;.;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1311.33	34	chr7	130308381	.	G	A	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.817;DP=754;ExcessHet=0;FS=1.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.068;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr7	130368427	130368427	A	G	exonic	CPA5	.	nonsynonymous SNV	CPA5:NM_001318223:exon12:c.A1141G:p.T381A,CPA5:NM_080385:exon13:c.A1141G:p.T381A,CPA5:NM_001127441:exon14:c.A1141G:p.T381A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0313164242198	.	.	8.247e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs781922959	4.105e-06	4.104e-06	0	8.251e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.039	0.51112	D	0.965	0.56013	D	0.8	0.58175	P	0.001669	0.38326	N	0.185093	1	0.81001	D	.	.	.	2.93	0.09822	T	-2.7	0.57599	D	0.235	0.26475	-1.0616	0.11361	T	0.029	0.12541	T	9	0.49634647	0.61289	T	0.031316	0.53429	D	0.204	0.49076	0.804	0.92230	0.365317461125	0.36143	0.6690808162246362	0.66846	0.46808818842	0.46165	0.572399795055	0.49017	T	0.146803	0.48458	T	-0.190324	0.22210	T	-0.511164	0.21194	T	0.935950815677643	0.60458	D	0.748325	0.36895	T	0.32272995	0.54870	0.34459865	0.60155	0.32272995	0.54870	0.34459865	0.60154	-4.63	0.32546	T	.	.	0.143	0.34049	B	.;.;.;.;.	.;.;.;.;.	3.515853	0.49260	22.7	0.9946839615177292	0.66207	0.88369	0.48265	D	AEFDBI	0.404402	0.47770	N	0.0165648806702043	0.42608	2.570526	-0.0221076516400427	0.38718	2.285187	0.99998304450708	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.81	3.4	0.38031	4.270000	0.58693	4.187000	0.42377	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.8031:0.0:0.0697:0.1271	7.453	0.26419	645	0.63593	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	917.33	38	chr7	130368427	.	A	G	917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=830;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-2.379;SOR=0.905	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	18	0	1	0
chr7	131443625	131443625	C	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon11:c.C697G:p.L233V,MKLN1:NM_013255:exon11:c.C1318G:p.L440V,MKLN1:NM_001145354:exon12:c.C1249G:p.L417V	.	434	1086	2	0	0	2	0.000919963	.	.	.	3989244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0395485690585	.	.	0.0001	0.0002	0	0	0	4.495e-05	0	0.0007	0.00011	17	154602	rs201682593	0.0001	0.0001	6.534e-05	0.0001	0.0013	8.915e-05	8.399e-05	0.0011	0.0010	2.987e-05	4.472e-05	0	0	0	0.0005	2.068e-05	0.0001	0.0013	5.252e-05	5.905e-05	5.139e-05	5.37e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.94e-05	0	0.0012	0.11	0.29554	T	0.59	0.08361	T	0.915	0.50599	P	0.395	0.44317	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	-0.76	0.73417	T	-0.88	0.23808	N	0.526	0.55540	-0.5805	0.65597	T	0.323	0.69186	T	10	0.055661976	0.06118	T	0.039549	0.58871	D	0.211	0.50185	0.328	0.31196	0.322865848456	0.31899	0.31377487933613035	0.31290	0.556748901551	0.52318	0.69594848156	0.66559	T	0.029022	0.52939	T	-0.156191	0.27349	T	-0.0475749	0.67189	D	0.0447443119095727	0.04555	T	0.960304	0.85063	D	0.2514296	0.48152	0.18886991	0.42202	0.2514296	0.48152	0.18886991	0.42201	-6.705	0.51848	T	.	.	0.125	0.27313	B	.;.	.;.	3.492457	0.48818	22.7	0.99641072485661131	0.76695	0.87007	0.46420	D	AEFDBHCIJ	0.776186	0.70937	D	0.308378157259333	0.56579	3.822669	0.435325068352205	0.63781	4.618729	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	6.039000	0.70611	7.620000	0.62269	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93579	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	720.33	35	chr7	131443625	.	C	G	720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.518;DP=691;ExcessHet=0;FS=3.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.268;SOR=1.134	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	18	0	1	0
chr7	132130556	132130556	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon32:c.C5608T:p.H1870Y	.	419	1071	30	2	0	34	0.015625	.	.	.	3192562	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.179	0.0145389197481	0.0037	0.00239617	0.0034	0.0007	0.0032	0	0.0014	0.0038	0.0044	0.0061	0.0032406	501	154602	rs150228337	0.0034	0.0034	0.0033	0.0036	0.0168	0.0034	0.0033	0.0141	0.0131	0.0005	0.0034	0.0091	0	0.0012	0.0168	0.0032	0.0046	0.0072	0.0030	0.0030	0.0030	0.0031	0.0050	0.0028	0.0027	0.0041	0.0037	0.0009	0.0395	0.0050	0.0078	0	0.0014	0.0204	0.0034	0.0047	0.0048	0.015	0.52492	D	0.008	0.67890	D	0.158	0.28271	B	0.044	0.24394	B	0.000008	0.62929	D	0.112116	0.999998	0.58761	D	0.345	0.11182	N	5.56	0.00864	T	-1.9	0.44284	N	0.282	0.31925	-0.3632	0.73168	T	0.002	0.00707	T	10	0.0074129403	0.00169	T	0.014539	0.34724	T	0.179	0.44899	.	.	0.102598925029	0.09809	0.1172842649708978	0.11656	0.773028615112	0.64876	0.389258414507	0.23565	T	0.175158	0.52464	T	-0.457932	0.01013	T	-0.426279	0.30358	T	0.0214244670018664	0.00845	T	0.70513	0.31558	T	0.14211065	0.32717	0.211634	0.45600	0.14211065	0.32716	0.211634	0.45599	-6.958	0.53727	T	.	.	0.090	0.12465	B	.;.	.;.	3.855395	0.55878	23.7	0.98688942737168184	0.44723	0.99491	0.96677	D	AEFDGBIJ	0.930001	0.91663	D	0.0916011758752532	0.46070	2.853277	0.312116949463604	0.56251	3.788185	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.088000	0.89344	8.627000	0.77836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.340	0.94324	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.012228	0.002924	0.000000	0.000000	0.018293	0.022727	0.02632	950.33	148	chr7	132130556	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=2029;ExcessHet=0;FS=1.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.092;SOR=0.948	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	18	0	1	0
chr7	132146671	132146671	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon28:c.G4894A:p.D1632N	.	.	.	.	.	.	.	.	.	.	.	3514111	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.0150287162273	.	.	8.279e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs758764974	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.987e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	4.496e-06	0	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.023	0.48186	D	0.324	0.18903	T	1.0	0.90584	D	0.982	0.75477	D	0.000807	0.41658	D	0.292545	1	0.81001	D	2.075	0.57047	M	2.76	0.11515	T	-3.19	0.64593	D	0.869	0.86618	-1.1323	0.01675	T	0.098	0.36651	T	10	0.8085903	0.80169	D	0.015029	0.35522	T	0.241	0.54641	0.397	0.42426	0.702272480429	0.69969	0.5757429342268128	0.57503	1.4846325006	0.86771	0.759191691875	0.75809	T	0.211966	0.57288	T	-0.343753	0.05133	T	-0.550026	0.17323	T	0.854241788387299	0.50535	D	0.991541	0.97335	D	0.14507109	0.33272	0.19886373	0.43740	0.14507109	0.33271	0.19886373	0.43739	-12.534	0.87355	D	.	.	0.625	0.70755	P	.;.	.;.	5.423565	0.90727	31	0.99929665887861618	0.99279	0.97637	0.76068	D	AEFDBI	0.913902	0.87653	D	0.839495976435044	0.88501	9.603	0.826748523129788	0.91586	10.96345	1.0	0.98316	0.562547	0.31514	0	0.563428	0.19063	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.799000	0.84507	7.676000	0.65050	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	20.054	0.97638	916	0.20744	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	108	chr7	132146671	.	C	T	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=740;ExcessHet=0;FS=5.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.325;SOR=1.243	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr7	132223612	132223612	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon9:c.G2012A:p.R671H	.	.	.	.	.	.	.	.	.	.	.	3510310	not_specified|PLXNA4-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00418861870034	.	.	4.455e-05	0	9.29e-05	0	0	3.199e-05	0	0.0001	3.88e-05	6	154602	rs754690916	1.369e-05	1.368e-05	1.498e-05	1.238e-05	0.0005	8.94e-06	7.27e-06	0.0001	7.541e-05	5.975e-05	4.475e-05	0	0	1.874e-05	0.0005	7.196e-06	0	4.645e-05	3.288e-05	3.284e-05	5.141e-05	1.346e-05	0.0001	1.262e-05	7.98e-06	2.264e-05	9.08e-06	4.829e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.105	0.38016	T	0.879	0.48338	P	0.343	0.42509	B	0.000000	0.84330	D	0.056342	0.996094	0.43014	D	1.93	0.51437	L	2.34	0.16351	T	-1.11	0.28703	N	0.494	0.52740	-1.1646	0.00651	T	0.045	0.19152	T	10	0.48475444	0.60641	T	0.004189	0.10089	T	0.120	0.33359	0.664	0.80199	0.223474106383	0.21959	0.2645147185229475	0.26364	0.733718582525	0.62856	0.433667182922	0.29710	T	0.058577	0.30881	T	-0.253696	0.13649	T	-0.420047	0.31070	T	0.0789713410009153	0.09855	T	0.873813	0.58316	D	0.24230671	0.47156	0.15816359	0.36949	0.24230671	0.47156	0.15816359	0.36948	-8.403	0.63785	D	.	.	0.076	0.05935	B	.;.	.;.	4.669488	0.74619	26.2	0.99887801258780562	0.96281	0.89684	0.50307	D	AEFDBI	0.436865	0.49690	N	0.418419744149337	0.62436	4.459359	0.492397013361658	0.67486	5.090375	0.999981616963066	0.51787	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	1.956000	0.40007	1.789000	0.28782	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9254:0.0:0.0746	12.948	0.57779	875	0.30485	PSI domain;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	35	chr7	132223612	.	C	T	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=756;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.996;SOR=0.803	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr7	134178591	134178591	C	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon10:c.C1196T:p.P399L,LRGUK:NM_001365701:exon10:c.C1196T:p.P399L,LRGUK:NM_144648:exon10:c.C1196T:p.P399L	.	432	1061	28	1	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0420747188032	0.0038	0.00159744	0.0041	0.0013	0.0089	0	0.0067	0.0048	0.0078	0.0008	0.0039715	614	154602	rs61749957	0.0037	0.0038	0.0038	0.0037	0.0286	0.0037	0.0036	0.0250	0.0237	0.0017	0.0064	0.0049	2.526e-05	0.0057	0.0286	0.0038	0.0046	0.0009	0.0032	0.0032	0.0033	0.0031	0.0043	0.0030	0.0029	0.0039	0.0037	0.0009	0	0.0042	0.0043	0	0.0061	0.0170	0.0043	0.0062	0.0002	0.018	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	1.19	0.37578	T	-7.13	0.94048	D	0.814	0.80964	-0.7147	0.59722	T	0.180	0.52660	T	10	0.009337038	0.00211	T	0.042075	0.60271	D	0.382	0.69946	.	.	0.596121774949	0.59291	0.6002376109370438	0.59954	0.312835549356	0.33584	0.587603807449	0.51156	T	0.022775	0.17502	T	-0.202682	0.20419	T	-0.0614425	0.66232	T	0.0413603651852104	0.03938	T	0.906109	0.66926	D	0.39795908	0.60591	0.4408099	0.67387	0.39795908	0.60591	0.4408099	0.67387	-10.618	0.77522	D	.	.	0.392	0.63806	A	.;.	.;.	5.308531	0.89112	29.9	0.99884319142461342	0.95970	0.95932	0.66779	D	AEFI	0.721614	0.67181	D	0.805177071810887	0.86431	8.882677	0.793317856094421	0.89325	9.928889	0.999999999996667	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	6.821000	0.75062	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:1.0:0.0:0.0	18.483	0.90768	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.020202	0.033967	0.052632	0.000000	0.017241	0.006098	0.007576	0.02632	1028.33	33	chr7	134178591	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.849;DP=720;ExcessHet=0;FS=1.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.35;SOR=0.479	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	134209835	134209835	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G2975A:p.S992N,LRGUK:NM_001365701:exon16:c.G2972A:p.S991N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06686932	0.09235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238376	0.03380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	-1.192553	0.00538	0.013	0.68875980856015884	0.08794	0.05763	0.11694	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.058706	0.01089	0	0.10902	0.23433	5.42	-10.8	0.00171	-1.818000	0.01811	-5.388000	0.01737	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0896:0.2133:0.4327:0.2644	4.484	0.11194	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	72.2	.	chr7	134209835	.	G	A	72.2	.	AC=2;AF=0.083;AN=24;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.2974;MLEAC=2;MLEAF=0.083;MQ=60;QD=24.07;SOR=1.179	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	1	0	7
chr7	134294915	134294915	A	G	exonic	SLC35B4	.	nonsynonymous SNV	SLC35B4:NM_032826:exon10:c.T914C:p.I305T	.	432	1089	0	1	0	2	0.000917431	.	.	.	3603102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0163874130358	7.7e-05	0.000199681	9.884e-05	0.0004	0	0	0	0	0	0.0005	8.41e-05	13	154602	rs200680990	5.267e-05	5.336e-05	3.675e-05	6.875e-05	0.0006	4.277e-05	3.952e-05	0.0005	0.0004	0.0004	0	0	0	0	0	6.295e-06	6.623e-05	0.0006	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.573e-05	6.279e-05	0.0004	0.0003	0.0003	0	0	0	0.0002	0	0	0	0	0.0010	0.389	0.10874	T	0.338	0.18125	T	0.0	0.02946	B	0.001	0.04355	B	0.070247	0.21551	N	0.534254	0.99344	0.23712	N	0.6	0.15550	N	-0.45	0.69896	T	-0.72	0.20358	N	0.061	0.03283	-1.0154	0.25207	T	0.131	0.44208	T	10	0.045710802	0.03673	T	0.016387	0.37623	T	0.067	0.19503	.	.	0.345859378078	0.34197	0.4679568271459479	0.46714	0.311910992098	0.33496	0.344332158566	0.17083	T	0.023173	0.17738	T	-0.431517	0.01451	T	-0.52762	0.19526	T	0.0145938532879398	0.00300	T	0.851715	0.53598	D	0.051011592	0.09304	0.03759854	0.03447	0.051011592	0.09304	0.03759854	0.03447	-5.583	0.42637	T	.	.	0.060	0.00995	B	.	.	1.384512	0.17965	13.47	0.85012668745786857	0.15632	0.60133	0.31109	D	AEFDBI	0.109175	0.21694	N	-0.693922655268364	0.16194	0.8228762	-0.628578785001926	0.18760	1.003603	0.999347243765873	0.39222	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.79	0.33	0.15169	3.179000	0.50587	-0.262000	0.10418	0.756000	0.94297	0.229000	0.24633	0.000000	0.08366	0.964000	0.52637	0.6927:0.1141:0.1932:0.0	6.864	0.23266	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2776.33	90	chr7	134294915	.	A	G	2776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.5;DP=1532;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.075;SOR=0.746	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr7	134304803	134304803	A	C	splicing	SLC35B4	NM_032826:exon4:c.344+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316836	0.84245	D	0.217336	0.84039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.289619	0.88810	29.7	0.99455780879309608	0.65530	0.99527	0.97087	D	AEFBI	.	.	.	1.06610263300664	0.97454	16.15582	0.904216850025143	0.95753	13.93361	0.999994063816261	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.09929	0.02979	0	0.981914	0.87903	5.37	5.37	0.76949	6.543000	0.73776	9.281000	0.79714	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	1.0:0.0:0.0:0.0	15.324	0.73853	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	66	chr7	134304803	.	A	C	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.588;DP=919;ExcessHet=0;FS=229.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.86;SOR=7.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1418	18	0	1	0
chr7	134536754	134536754	T	G	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon5:c.T534G:p.Y178X	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0005	0	8.639e-05	0	0.0002	0.0002	0	0.0023	0.0004269	66	154602	rs150738610	0.0003	0.0003	0.0002	0.0005	0.0036	0.0003	0.0003	0.0031	0.0029	0	0.0002	3.827e-05	0	3.744e-05	0.0036	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000427	0.44522	D	0.236906	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176159	0.71689	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.092638	0.96132	35	0.9908041505210391	0.51954	0.69411	0.34177	D	AEFCI	0.310110	0.41622	N	-0.018785366680861	0.41006	2.445101	-0.288767321328559	0.28467	1.587499	0.999905019883353	0.45458	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.68	-3.56	0.04330	0.007000	0.13074	-5.727000	0.01616	-0.234000	0.07639	0.921000	0.31989	0.000000	0.08366	0.996000	0.76049	0.0:0.7532:0.0:0.2468	14.435	0.66849	822	0.40702	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001775	0.000000	0.001366	0.000000	0.000000	0.000000	0.003623	0.004237	0.02632	1312.33	34	chr7	134536754	.	T	G	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=782;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.02;MQRankSum=-0.013;QD=10.94;ReadPosRankSum=-1.288;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	18	0	1	0
chr7	134576992	134576992	T	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon9:c.T855G:p.N285K,AKR1B15:NM_001367821:exon9:c.T771G:p.N257K,AKR1B15:NM_001080538:exon10:c.T855G:p.N285K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0125376869613	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs375543873	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	0.987891	0.40668	D	1.235	0.30780	L	2.31	0.16794	T	-4.87	0.81269	D	0.395	0.46649	-0.9872	0.33298	T	0.027	0.11663	T	9	0.25577247	0.42974	T	0.012538	0.31203	T	0.075	0.21907	0.643	0.78010	0.112648838833	0.10856	0.4376542028797822	0.43682	0.0635786863662	0.07079	0.467388093472	0.34322	T	.	.	.	-0.547109	0.00304	T	-0.727468	0.04443	T	0.128706008195877	0.15261	T	0.810419	0.46176	T	.	.	.	.	.	.	.	.	-6.679	0.51652	T	.	.	0.209	0.43585	B	.;.	.;.	0.858468	0.12310	8.849	0.94067503474665048	0.24207	0.60608	0.31244	D	AEFBI	0.267789	0.38442	N	-0.734318168531021	0.15062	0.7558063	-0.842379955908037	0.13471	0.6989776	0.753817667671582	0.23402	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.51	-5.4	0.02449	-0.077000	0.11356	-4.433000	0.02159	-0.210000	0.08370	0.870000	0.30794	0.000000	0.08366	0.370000	0.26111	0.2231:0.5377:0.0:0.2391	6.719	0.22509	754	0.51307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3374.33	41	chr7	134576992	.	T	G	3374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=1087;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.773;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1477	18	0	1	0
chr7	134935758	134935760	AAG	-	exonic	CALD1	.	nonframeshift deletion	CALD1:NM_033139:exon4:c.674_676del:p.E227del,CALD1:NM_033138:exon6:c.1379_1381del:p.E462del,CALD1:NM_033157:exon6:c.692_694del:p.E233del	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0022	0.0008	0.0001488	23	154602	rs776724304	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0	0.0002	0	0	0	0.0002	0.0002	0.0001	0.0005	7.225e-05	7.223e-05	3.853e-05	0.0001	0.0001	3.97e-05	3.126e-05	6.802e-05	5.086e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2894.29	34	chr7	134935757	.	AAAG	A	2894.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.14;DP=791;ExcessHet=0;FS=1.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-0.101;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	18	0	1	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M,CALD1:NM_033139:exon6:c.G883A:p.V295M,CALD1:NM_004342:exon7:c.G823A:p.V275M,CALD1:NM_033138:exon8:c.G1588A:p.V530M,CALD1:NM_033157:exon8:c.G901A:p.V301M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005285	0.000000	0.005556	0.003546	0.000000	0.000000	0.009494	0.011538	0.05263	1149.83	33	chr7	134947563	.	G	A	1149.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.85;DP=710;ExcessHet=0.119;FS=4.907;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.907;SOR=1.203	GT:AD:DP:GQ:PL	0/1:32,25:57:99:669,0,722	17	0	2	0
chr7	134993564	134993564	G	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367812:exon4:c.G196A:p.V66M,AGBL3:NM_001367813:exon4:c.G196A:p.V66M,AGBL3:NM_001367816:exon4:c.G196A:p.V66M,AGBL3:NM_001367817:exon4:c.G196A:p.V66M,AGBL3:NM_001367818:exon4:c.G196A:p.V66M,AGBL3:NM_178563:exon4:c.G196A:p.V66M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00810550918857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056137967	4.287e-06	4.104e-06	2.82e-06	5.795e-06	0.0002	1.54e-06	1.01e-06	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.707e-06	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.064	0.44905	T	0.998	0.73220	D	0.973	0.72923	D	0.000005	0.62929	D	0.062772	0.67326	0.39298	D	1.1	0.28011	L	0.81	0.48460	T	-0.91	0.24460	N	0.429	0.46835	-0.4971	0.68754	T	0.233	0.59953	T	10	0.28249937	0.45828	T	0.008106	0.21495	T	0.137	0.36984	0.192	0.10304	0.144782658237	0.14088	0.47380778164251147	0.47299	.	.	0.755749046803	0.75297	T	.	.	.	-0.0247833	0.48168	T	-0.273376	0.47477	T	0.954644560813904	0.64315	D	0.859214	0.55036	D	.	.	.	.	.	.	.	.	-5.763	0.44250	T	.	.	0.665	0.71550	P	.;.	.;.	4.437157	0.68866	25.3	0.99906116964835978	0.97651	0.77447	0.38080	D	AEFBHCI	0.429534	0.49261	N	0.685887973247527	0.78706	6.92627	0.690929699841171	0.81690	7.585938	0.999999799141233	0.74766	0.421363	0.06395	0	0.518115	0.08659	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	5.66	5.66	0.87293	4.149000	0.57864	7.170000	0.57724	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0807:0.0:0.9193:0.0	11.932	0.52135	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	134	chr7	134993564	.	G	A	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.726;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr7	135010224	135010224	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367815:exon4:c.C307T:p.H103Y,AGBL3:NM_001367819:exon4:c.C253T:p.H85Y,AGBL3:NM_001367812:exon5:c.C493T:p.H165Y,AGBL3:NM_001367813:exon5:c.C493T:p.H165Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000699667688753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181549248	1.316e-05	1.431e-05	0	2.29e-05	2.21e-05	2.19e-06	8.2e-07	3.67e-06	1.37e-06	0	0	0	0	0	0	2.21e-05	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	31.09	2	chr7	135010224	.	C	T	31.09	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=-0.157;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	14	0	1	4
chr7	137915948	137915948	C	A	exonic	CREB3L2	.	nonsynonymous SNV	CREB3L2:NM_001253775:exon3:c.G384T:p.E128D,CREB3L2:NM_001318246:exon3:c.G195T:p.E65D,CREB3L2:NM_194071:exon3:c.G384T:p.E128D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0551206834399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.91255	T	0.164	0.36233	T	0.994	0.90584	D	0.97	0.84481	D	0.003743	0.34535	N	0.215792	0.999994	0.58761	D	1.995	0.54099	M	-0.27	0.72348	T	-1.68	0.60665	N	0.495	0.82358	-0.3112	0.74671	T	0.405	0.75515	T	10	0.27412483	0.44965	T	0.055121	0.66117	D	0.219	0.51417	0.171	0.07655	0.604391051337	0.60122	0.1995607976436548	0.19873	0.461233858112	0.45668	0.606671512127	0.53846	T	0.205472	0.56454	T	0.0530158	0.58730	T	-0.161623	0.58206	T	0.672583341598511	0.39453	D	0.684632	0.29288	T	0.099074945	0.23378	0.0935931	0.22115	0.099074945	0.23377	0.0935931	0.22114	-7.247	0.56267	T	.	.	0.260	0.70255	B	.;.;.;.;.;.	.;.;.;.;.;.	3.254588	0.44482	21.9	0.99646121895868878	0.77005	0.82681	0.41875	D	AEFGBI	0.326551	0.42779	N	0.194090313517574	0.50916	3.277135	0.162983926137742	0.47835	3.00775	0.999993274657357	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	4.36	0.51643	0.614000	0.24009	1.000000	0.23254	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:0.7357:0.0:0.2643	9.670	0.39171	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1321.33	40	chr7	137915948	.	C	A	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=854;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.404;SOR=0.672	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr7	138621107	138621107	C	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon10:c.G836T:p.G279V,SVOPL:NM_001331192:exon11:c.G1019T:p.G340V,SVOPL:NM_001139456:exon14:c.G1292T:p.G431V	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.104671377833	0.0013	0.00159744	0.0025	0.0005	0.0065	0	0	0.0018	0.0034	0.0057	0.0022509	348	154602	rs142327276	0.0020	0.0020	0.0019	0.0022	0.0064	0.0020	0.0019	0.0051	0.0049	0.0004	0.0029	0.0013	0	1.873e-05	0.0064	0.0019	0.0021	0.0055	0.0011	0.0011	0.0011	0.0011	0.0039	0.0010	0.0009	0.0026	0.0021	0.0004	0	0.0007	0.0014	0	0	0.0034	0.0017	0.0014	0.0039	0.002	0.78490	D	0.006	0.72224	D	0.989	0.62824	D	0.88	0.62516	P	0.000000	0.84330	D	0.052767	1	0.81001	D	3.64	0.94097	H	-1.11	0.77466	T	-8.02	0.96567	D	0.978	0.99100	0.380	0.88793	D	0.585	0.85109	D	10	0.11376256	0.21381	T	0.104671	0.77937	D	0.859	0.95691	.	.	0.913165136402	0.91229	0.9511391303310808	0.95097	0.265635106217	0.29118	0.770900249481	0.77559	T	0.337631	0.70700	T	0.0618352	0.59843	T	0.31755	0.88990	D	0.114464696492018	0.13880	T	0.907509	0.67274	D	0.9603125	0.97311	0.923299	0.96630	0.9603125	0.97312	0.923299	0.96630	-11.181	0.83858	D	.	.	0.917	0.87601	P	.;.;.;.	.;.;.;.	4.655699	0.74259	26.1	0.99754041166120622	0.84537	0.96474	0.69319	D	AEFDBI	0.867643	0.78748	D	0.806585240734171	0.86516	8.910727	0.760616659801487	0.86949	9.055919	0.999530929563314	0.40238	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.33	5.33	0.75683	5.430000	0.66239	5.959000	0.51789	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	19.016	0.92873	905	0.23532	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.010870	0.023392	0.000000	0.017241	0.009146	0.003788	0.05263	2050.83	48	chr7	138621107	.	C	A	2050.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=846;ExcessHet=0.119;FS=4.595;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.733;SOR=0.926	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_130841:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_020632:exon15:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	1	1494	26	1	0	28	0.00928382	.	.	YES	309838	not_specified|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|Distal_Renal_Tubular_Acidosis,_Recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN239177	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.003788	0.07895	2917.77	33	chr7	138739614	.	T	C	2917.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.266;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.34;ReadPosRankSum=1.55;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	17	1	1	0
chr7	138861140	138861140	C	G	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.G5246C:p.S1749T,KIAA1549:NM_020910:exon16:c.G5246C:p.S1749T	.	.	.	.	.	.	.	.	0.0004	0.008	.	3276085	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.017993561348	.	.	1.667e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs766713366	1.711e-05	1.71e-05	1.225e-05	2.201e-05	0.0001	1.174e-05	9.92e-06	7.999e-05	6.238e-05	0	0	0	0	0	0	1.169e-05	0	0.0001	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.173	0.23095	T	0.286	0.21277	T	0.763	0.43659	P	0.311	0.41430	B	0.333037	0.14083	N	0.710504	0.999998	0.08975	N	2.52	0.73523	M	1.87	0.24085	T	-1.22	0.30964	N	0.391	0.44090	-1.0794	0.07465	T	0.044	0.19029	T	10	0.1490787	0.28220	T	0.017994	0.39899	T	0.031	0.07369	0.108	0.01928	0.117191471859	0.11215	0.3075361738221834	0.30666	0.259224279476	0.28482	0.412326812744	0.26778	T	0.010335	0.09344	T	-0.330031	0.06109	T	-0.530315	0.19255	T	0.341859966516495	0.26697	T	0.591441	0.21800	T	0.08916507	0.20824	0.090090215	0.21105	0.08916507	0.20824	0.090090215	0.21105	-4.408	0.30216	T	.	.	0.093	0.21125	B	.;.	.;.	1.716604	0.21855	15.38	0.80728115085361296	0.13340	0.54728	0.29687	D	AEFDBI	0.133721	0.25348	N	-0.482826138556138	0.22644	1.210528	-0.473301969534018	0.22893	1.245682	0.963219975754309	0.28676	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	3.72	0.41857	1.541000	0.35732	1.408000	0.26256	0.595000	0.32841	0.756000	0.29198	0.408000	0.24745	0.218000	0.22407	0.0:0.8359:0.0:0.1641	10.576	0.44419	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	33	chr7	138861140	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=761;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=2;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	18	0	1	0
chr7	138871176	138871176	C	G	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon13:c.G4532C:p.S1511T,KIAA1549:NM_020910:exon13:c.G4532C:p.S1511T	.	422	1098	2	0	0	2	0.000909918	.	.	.	710805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0062	0.00638978	0.0024	0.0225	0.0018	0	0	0.0008	0.0035	0.0004	0.0022574	349	154602	rs61744110	0.0012	0.0012	0.0012	0.0012	0.0197	0.0011	0.0011	0.0184	0.0179	0.0197	0.0021	3.827e-05	0	0	0.0062	0.0007	0.0019	0.0007	0.0058	0.0058	0.0060	0.0056	0.0189	0.0055	0.0054	0.0178	0.0174	0.0189	0	0.0023	0.0003	0	0	0.0068	0.0007	0.0052	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005475	0.32770	N	0.355189	0.999999	0.08975	N	0.32	0.10341	N	1.86	0.24841	T	0.63	0.02404	N	0.232	0.29313	-0.9773	0.35616	T	0.013	0.04985	T	10	0.0048284233	0.00103	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.31701907340603097	0.31614	0.0884479184041	0.10002	0.558503627777	0.47056	T	0.00803	0.07391	T	-0.660773	0.00062	T	-0.706336	0.05486	T	0.00501072861740914	0.00054	T	0.059994	0.00436	T	0.033828728	0.03680	0.05379807	0.09132	0.03416307	0.03779	0.04070703	0.04463	-4.585	0.31982	T	.	.	0.054	0.00328	B	.;.	.;.	1.987999	0.25258	16.70	0.83310096031002956	0.14656	0.12889	0.17541	N	AEFDBHCI	0.046557	0.07744	N	-0.690940295794031	0.16278	0.8279497	-0.456137941560102	0.23374	1.274401	0.99999999648916	0.74766	0.732398	0.92422	0	0.78372	0.99691	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.06	4.17	0.48303	2.604000	0.45938	7.491000	0.59369	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0765:0.2919:0.6316:0.0	8.686	0.33398	728	0.54609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.015152	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1046.33	40	chr7	138871176	.	C	G	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.714;DP=742;ExcessHet=0;FS=3.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.094;SOR=1.179	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1134	18	0	1	0
chr7	138871281	138871281	G	A	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon13:c.C4427T:p.P1476L,KIAA1549:NM_020910:exon13:c.C4427T:p.P1476L	.	415	1104	3	0	0	3	0.00135685	.	.	.	833172	Retinitis_pigmentosa_86|Retinal_dystrophy|not_provided	MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00368753040051	8.2e-05	.	0.0001	0.0001	0.0002	0	0	0.0002	0.0024	0	0.0001423	22	154602	rs201971426	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	0.0001	0.0002	0	0	0	0.0012	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0	0	0.0002	0.0028	0	0.449	0.09022	T	0.036	0.52060	D	0.46	0.37421	P	0.035	0.26717	B	0.010718	0.29815	N	0.350714	0.968781	0.38683	D	0	0.06538	N	1.91	0.23486	T	-1.75	0.41428	N	0.312	0.36148	-1.0454	0.15709	T	0.034	0.14769	T	10	0.07976982	0.12870	T	0.003688	0.08527	T	0.098	0.28162	.	.	0.0934897674506	0.08844	0.15582828875094046	0.15503	0.135927138627	0.15326	0.312398791313	0.12269	T	0.013218	0.11472	T	-0.46998	0.00850	T	-0.616678	0.11449	T	0.0655538205398032	0.08013	T	0.715328	0.32778	T	0.042512905	0.06460	0.04673985	0.06580	0.042512905	0.06460	0.04673985	0.06580	-5.351	0.40445	T	.	.	0.074	0.09965	B	.;.	.;.	4.114729	0.61453	24.3	0.96887702793963615	0.31484	0.94216	0.60466	D	AEFDBHCI	0.812799	0.73544	D	-0.0965526349017342	0.37543	2.18574	0.0416745090939224	0.41672	2.507464	1.0	0.98316	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.16	5.16	0.70563	7.533000	0.80893	6.699000	0.56365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	17.816	0.88545	728	0.54609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1273.33	40	chr7	138871281	.	G	A	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=756;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.257;SOR=0.816	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1134	18	0	1	0
chr7	139231951	139231951	G	C	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon1:c.G467C:p.R156P	.	414	1099	9	0	0	9	0.00407793	0.2541	0.448	.	710819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0065	0.00519169	0.0075	0.0011	0.0062	0.0001	0.0105	0.0108	0.0074	0.0019	0.0070504	1090	154602	rs141209093	0.0084	0.0084	0.0085	0.0084	0.0096	0.0083	0.0083	0.0094	0.0094	0.0010	0.0069	0.0036	2.776e-05	0.0096	0.0078	0.0096	0.0078	0.0019	0.0071	0.0072	0.0074	0.0068	0.0117	0.0068	0.0067	0.0110	0.0107	0.0014	0.0011	0.0067	0.0029	0.0002	0.0086	0.0034	0.0117	0.0100	0.0017	0.004	0.65419	D	0.143	0.33219	T	0.876	0.48154	P	0.327	0.41976	B	0.109816	0.19468	N	0.510471	0.999981	0.54805	D	1.24	0.30952	L	1.3	0.35590	T	-1.83	0.42957	N	0.41	0.45047	-0.9811	0.34748	T	0.048	0.20513	T	10	0.006573856	0.00149	T	.	.	.	0.193	0.47281	.	.	0.0675242888579	0.06100	0.1881890492017854	0.18736	0.167797391371	0.18917	0.61440384388	0.54937	T	0.174	0.52374	T	-0.304387	0.08252	T	-0.196381	0.54990	T	0.01703467782003	0.00451	T	0.777822	0.41150	T	0.51757896	0.68120	0.61401516	0.77537	0.51757896	0.68121	0.61401516	0.77538	-2.776	0.07964	T	.	.	0.363	0.57411	A	.	.	4.261129	0.64760	24.7	0.99450904452626188	0.65274	0.85155	0.44264	D	AEFDGBCI	0.872707	0.79469	D	0.308146102837721	0.56565	3.82148	0.316999960761909	0.56540	3.817293	0.99999999995234	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	3.49	3.49	0.39065	2.880000	0.48228	11.410000	0.92689	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.146	0.72337	917	0.20147	.	.	.	FMC1	Pituitary	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006270	0.005495	0.006831	0.009554	0.000000	0.000000	0.003185	0.000000	0.02632	1052.33	37	chr7	139231951	.	G	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=715;ExcessHet=0;FS=2.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.561;SOR=0.394	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr7	139417589	139417589	A	C	exonic	FMC1-LUC7L2;LUC7L2	.	nonsynonymous SNV	LUC7L2:NM_016019:exon9:c.A861C:p.E287D,FMC1-LUC7L2:NM_001244584:exon10:c.A1059C:p.E353D,LUC7L2:NM_001244585:exon10:c.A852C:p.E284D,LUC7L2:NM_001270643:exon10:c.A858C:p.E286D	.	430	1074	17	1	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0060	0.00479233	0.0091	0.0010	0.0043	0	0.0236	0.0096	0.0167	0.0138	0.0086157	1332	154602	rs118183173	0.0092	0.0092	0.0088	0.0096	0.0138	0.0091	0.0090	0.0131	0.0129	0.0007	0.0036	0.0034	0	0.0227	0.0087	0.0093	0.0075	0.0138	0.0076	0.0076	0.0069	0.0083	0.0135	0.0073	0.0071	0.0108	0.0099	0.0008	0	0.0068	0.0026	0.0002	0.0229	0.0034	0.0102	0.0047	0.0135	0.156	0.24090	T	0.691	0.07468	T	0.002	0.09854	B	0.004	0.10090	B	0.008616	0.30756	N	0.386975	.	.	.	0.72	0.18721	N	3.28	0.29602	T	0.45	0.03955	N	0.413	0.45520	-1.0407	0.17101	T	0.025	0.10866	T	9	0.005338609	0.00117	T	.	.	.	0.031	0.07369	0.166	0.07071	0.0675242888579	0.06100	0.11001872227219425	0.10930	0.35639358059	0.37383	.	.	.	0.006647	0.06077	T	-0.53274	0.00370	T	-0.523741	0.19916	T	0.00975724902458121	0.00128	T	0.868613	0.57716	D	0.030150305	0.02628	0.047542896	0.06869	0.030150305	0.02628	0.047542896	0.06869	-3.311	0.13879	T	.	.	0.103	0.20313	B	.;.;.;.;.	.;.;.;.;.	2.282966	0.29193	18.04	0.97905783356081255	0.36773	0.79641	0.39504	D	AEFBHI	0.215066	0.34046	N	-0.676192870899167	0.16700	0.853223	-0.49681784676437	0.22242	1.207089	0.110448304105022	0.16633	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	0.858	0.18168	0.694000	0.25190	2.580000	0.33410	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6097:0.1267:0.2636:0.0	5.984	0.18653	802	0.44336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.011364	0.02632	2699.33	233	chr7	139417589	.	A	C	2699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=874;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.141;SOR=0.799	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	139524043	139524043	G	A	exonic	CLEC2L	.	nonsynonymous SNV	CLEC2L:NM_001080511:exon1:c.G116A:p.R39H,CLEC2L:NM_001353368:exon1:c.G116A:p.R39H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0272041293947	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323624627	9.498e-07	6.84e-06	0	2.014e-06	1.11e-06	0	0	.	.	0	0	0	0	0	0	1.11e-06	0	0	1.326e-05	1.314e-05	0	2.716e-05	2.422e-05	2.2e-06	8.3e-07	.	.	2.422e-05	0	0	0	0	0	0	1.48e-05	0	0	0.019	0.50132	D	0.166	0.30828	T	0.878	0.48285	P	0.05	0.25278	B	.	.	.	.	0.949888	0.26523	N	0.345	0.11182	N	3.62	0.04399	T	-1.51	0.36787	N	0.138	0.13626	-0.9221	0.45265	T	0.005	0.01761	T	9	0.15259603	0.28820	T	0.027204	0.50045	D	0.058	0.16647	0.29	0.25081	0.215869574891	0.21205	0.18405805559658558	0.18324	0.0811337007811	0.09126	0.919360041618	0.98274	D	0.035616	0.23789	T	-0.220915	0.17869	T	-0.555106	0.16839	T	0.334722700884011	0.26414	T	0.639636	0.25265	T	0.11528963	0.27208	0.12600356	0.30352	0.11528963	0.27208	0.12600356	0.30351	-5.968	0.46011	T	.	.	0.253	0.48777	B	.	.	3.328140	0.45808	22.2	0.99479586138917631	0.66795	0.54915	0.29733	D	AEFDBI	0.086718	0.17583	N	-0.54855129195239	0.20529	1.082888	-0.529978496586328	0.21340	1.153981	0.970308963803062	0.29197	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	2.96	2.06	0.25932	0.022000	0.13402	6.875000	0.56798	0.504000	0.22967	0.018000	0.19461	1.000000	0.68203	0.636000	0.32315	0.0:0.2559:0.7441:0.0	7.855	0.28637	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	184.82	13	chr7	139524043	.	G	A	184.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.589;DP=196;ExcessHet=0;FS=0;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=1.44;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,247:.	17	0	1	1
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E,TBXAS1:NM_001061:exon6:c.C480A:p.D160E,TBXAS1:NM_001314028:exon6:c.C423A:p.D141E,TBXAS1:NM_030984:exon6:c.C480A:p.D160E,TBXAS1:NM_001166253:exon7:c.C618A:p.D206E,TBXAS1:NM_001166254:exon8:c.C279A:p.D93E,TBXAS1:NM_001130966:exon10:c.C480A:p.D160E	Ghosal hematodiaphyseal syndrome, Autosomal recessive	1	1470	48	2	1	53	0.0173797	.	.	.	710823	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs5768	0.0068	0.0068	0.0067	0.0069	0.0140	0.0067	0.0066	0.0116	0.0107	0.0009	0.0058	0.0243	0	0.0020	0.0140	0.0071	0.0078	0.0053	0.0048	0.0048	0.0047	0.0048	0.0065	0.0045	0.0044	0.0060	0.0058	0.0011	0.0022	0.0052	0.0265	0.0006	0.0020	0.0136	0.0065	0.0099	0.0035	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.15046	.	.	.	.	.	.	.	0.0074077547	0.00168	T	.	.	.	.	.	.	.	.	.	0.18858199189916144	0.18776	.	.	.	.	.	0.028943	0.20850	T	.	.	.	.	.	.	.	.	.	0.424958	0.12501	T	.	.	.	.	.	.	.	.	-3.967	0.23308	T	.	.	0.193	0.44694	B	.;.;.;.;.;.	.;.;.;.;.;.	1.396628	0.18099	13.55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341000	0.07858	0.189000	0.15722	0.596000	0.33519	0.003000	0.16062	0.004000	0.18990	0.997000	0.79791	.	.	.	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1837.33	37	chr7	139953397	.	C	A	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=753;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.253;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr7	140015766	140015766	C	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon10:c.C1087T:p.R363C,TBXAS1:NM_001061:exon11:c.C1270T:p.R424C,TBXAS1:NM_001314028:exon11:c.C1213T:p.R405C,TBXAS1:NM_030984:exon11:c.C1270T:p.R424C,TBXAS1:NM_001166253:exon12:c.C1408T:p.R470C,TBXAS1:NM_001166254:exon13:c.C1069T:p.R357C,TBXAS1:NM_001130966:exon15:c.C1270T:p.R424C	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1613990	TBXAS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0464478126371	0.0015	0.00159744	0.0008	0.0064	0.0007	0.0001	0	0.0003	0.0022	0	0.0007244	112	154602	rs5762	0.0003	0.0003	0.0003	0.0003	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0006	0.0027	0.0001	0	0.0012	3.867e-05	0.0009	5.797e-05	0.0019	0.0019	0.0020	0.0019	0.0063	0.0018	0.0017	0.0057	0.0054	0.0063	0	0.0009	0.0035	0	0	0.0034	7.348e-05	0.0009	0	0.175	0.25055	T	0.127	0.35082	T	0.17	0.28703	B	0.073	0.28123	B	0.942128	0.08346	N	0.976407	0.998094	0.22354	N	.	.	.	-0.39	0.69158	T	-1.51	0.36787	N	0.227	0.29889	-0.8236	0.53708	T	0.227	0.59221	T	10	0.009269536	0.00209	T	0.046448	0.62461	D	0.216	0.50959	.	.	0.752477613949	0.75024	0.7426249018366236	0.74208	0.164649147638	0.18577	0.240315064788	0.02819	T	0.034464	0.23330	T	-0.358611	0.04208	T	-0.284868	0.46303	T	0.00866549920485869	0.00106	T	0.782522	0.47957	T	.	.	.	.	.	.	.	.	-8.314	0.63190	D	.	.	0.091	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	2.128633	0.27101	17.35	0.98262797205748875	0.39685	0.17319	0.19785	N	AEFDBI	0.184551	0.31188	N	-0.450984526598893	0.23705	1.274953	-0.455550835554026	0.23391	1.275386	0.18326192160824	0.17901	0.517182	0.21443	0	0.693144	0.66847	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.52	3.64	0.40864	0.811000	0.26855	0.828000	0.21920	0.599000	0.40250	0.316000	0.25468	0.244000	0.23872	0.148000	0.20235	0.0:0.907:0.0:0.093	10.411	0.43479	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1495.33	34	chr7	140015766	.	C	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=776;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.081;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.05263	2294.81	33	chr7	140017700	.	G	A	2294.81	.	AC=2;AF=0.053;AN=38;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.87;SOR=1.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	18	1	0	0
chr7	140017723	140017723	G	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1234T:p.G412W,TBXAS1:NM_001061:exon12:c.G1417T:p.G473W,TBXAS1:NM_001314028:exon12:c.G1360T:p.G454W,TBXAS1:NM_001166253:exon13:c.G1555T:p.G519W,TBXAS1:NM_001166254:exon14:c.G1216T:p.G406W,TBXAS1:NM_001130966:exon16:c.G1417T:p.G473W	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1517	4	0	1	5	0.00131666	.	.	YES	614310	Thromboxane_synthetase_deficiency|Ghosal_hematodiaphyseal_dysplasia|not_provided|not_specified	MONDO:MONDO:0013597,MedGen:C0398635,OMIM:614158|MONDO:MONDO:0009274,MedGen:C1856465,OMIM:231095,Orphanet:1802|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.890	0.354936158424	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0.0011	0	0.0001552	24	154602	rs149988492	0.0001	0.0001	0.0001	0.0001	0.0007	9.469e-05	8.951e-05	0.0002	0.0001	0	0.0003	0.0001	0	0	0.0007	0.0001	0.0002	1.159e-05	5.915e-05	5.911e-05	5.14e-05	6.726e-05	0.0001	3.078e-05	2.21e-05	5.842e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.36	0.80125	T	-7.5	0.95045	D	0.878	0.87590	0.865	0.95219	D	0.785	0.92691	D	10	0.9624627	0.95674	D	0.354936	0.92365	D	0.890	0.96836	.	.	0.850426547833	0.84899	0.9412587160664153	0.94106	0.605192365814	0.55423	0.649990916252	0.59984	T	0.353429	0.72072	T	0.224876	0.76236	D	0.382802	0.91530	D	0.991000950336456	0.81251	D	0.962504	0.89738	D	.	.	.	.	.	.	.	.	-13.527	0.91417	D	.	.	0.93	0.85022	P	.;.;.;.;.	.;.;.;.;.	5.453351	0.91076	32	0.9963052165496068	0.76020	0.94643	0.61838	D	AEFDBCI	0.955023	0.97256	D	0.801783039392549	0.86219	8.815184	0.64072296924908	0.77921	6.77347	0.999999999999998	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	7.031000	0.76223	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	15.408	0.74613	934	0.15400	.;Cytochrome P450, conserved site;Cytochrome P450, conserved site;Cytochrome P450, conserved site;Cytochrome P450, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	974.33	33	chr7	140017723	.	G	T	974.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=728;ExcessHet=0;FS=2.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.3;SOR=1.061	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	18	0	1	0
chr7	140176891	140176891	G	C	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon1:c.C47G:p.A16G	.	10	1506	5	1	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00501122642021	.	0.000199681	0.0017	0	0.0085	0	0	0.0024	0	0.0019	0.0002587	40	154602	rs558379371	0.0004	0.0004	0.0004	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	4.948e-05	0.0003	0.0148	0	0	0.0020	0.0001	0.0015	0.0009	0.0006	0.0006	0.0005	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	4.857e-05	0	0.0009	0.0162	0	0	0.0034	0.0002	0.0005	0.0012	0.331	0.13088	T	0.0	0.92824	D	0.198	0.29589	B	0.016	0.17743	B	.	.	.	.	0.990245	0.24196	N	0.895	0.22405	L	2.67	0.12473	T	-0.14	0.09135	N	0.166	0.17553	-1.0096	0.27043	T	0.019	0.07893	T	9	0.0044174194	0.00090	T	0.005011	0.12660	T	0.008	0.00669	.	.	0.117191471859	0.11215	0.15201814647770126	0.15123	0.893785170979	0.70334	0.858622908592	0.90907	D	0.011718	0.10413	T	-0.565026	0.00237	T	-0.624931	0.10803	T	0.021094505726029	0.00811	T	0.326967	0.06756	T	0.066502005	0.14315	0.14532992	0.34470	0.066502005	0.14315	0.14532992	0.34469	-5.721	0.43880	T	.	.	0.130	0.27762	B	.	.	2.610327	0.33905	19.48	0.91895283157090735	0.21215	0.29616	0.23868	N	AEFGBHCIJ	0.070627	0.14027	N	-0.537484552455157	0.20878	1.103891	-0.446315217120843	0.23653	1.29105	0.999999515070816	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	1.89	1.89	0.24700	0.012000	0.13184	.	.	0.292000	0.18798	0.010000	0.18352	.	.	0.986000	0.61781	0.1826:0.0:0.8174:0.0	5.455	0.15884	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002392	0.000000	0.005515	0.000000	0.000000	0.009615	0.000000	0.000000	0.02632	728.33	33	chr7	140176891	.	G	C	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.122;SOR=0.825	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	18	0	1	0
chr7	140351274	140351274	G	A	exonic	SLC37A3	.	nonsynonymous SNV	SLC37A3:NM_001363375:exon7:c.C638T:p.P213L,SLC37A3:NM_001287498:exon9:c.C881T:p.P294L,SLC37A3:NM_001363373:exon9:c.C881T:p.P294L,SLC37A3:NM_001363374:exon9:c.C881T:p.P294L,SLC37A3:NM_001363378:exon9:c.C881T:p.P294L,SLC37A3:NM_032295:exon9:c.C881T:p.P294L,SLC37A3:NM_207113:exon9:c.C881T:p.P294L	.	439	1082	1	0	0	1	0.000461894	0.0012	0.04	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0125115355257	.	0.00179712	0.0012	0	0	0	0	0.0001	0.0011	0.0083	0.0010349	160	154602	rs558974013	0.0006	0.0006	0.0004	0.0009	0.0081	0.0006	0.0006	0.0076	0.0074	2.988e-05	4.476e-05	0	2.519e-05	0.0001	0.0002	0.0001	0.0007	0.0081	0.0004	0.0004	0.0003	0.0005	0.0083	0.0003	0.0003	0.0063	0.0056	0.0002	0	6.543e-05	0	0	9.418e-05	0	0.0001	0	0.0083	0.254	0.16903	T	0.534	0.18789	T	0.009	0.15093	B	0.012	0.16012	B	0.000296	0.46274	N	0.232813	0.999964	0.81001	D	0.255	0.09829	N	0.61	0.53516	T	-2.88	0.60507	D	0.143	0.14338	-1.0711	0.09173	T	0.100	0.37188	T	10	0.0082555115	0.00187	T	0.012512	0.31146	T	0.081	0.23632	.	.	0.348983352498	0.34513	0.482584543892184	0.48178	0.282826410038	0.30739	0.487831145525	0.37138	T	0.337988	0.70730	T	-0.434905	0.01386	T	-0.391656	0.34357	T	0.0806637893090386	0.10072	T	0.918208	0.70605	D	0.06353982	0.13391	0.09927788	0.23698	0.06353982	0.13391	0.09927788	0.23697	-10.005	0.73942	D	.	.	0.131	0.28203	B	.;.;.	.;.;.	2.369855	0.30405	18.43	0.88241091164661223	0.17824	0.79540	0.39434	D	AEFBI	0.265695	0.38277	N	0.30429193389789	0.56369	3.801464	0.278446557159098	0.54283	3.59376	0.141609603042094	0.17283	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	2.36	0.28258	1.900000	0.39460	1.395000	0.26148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.5043:0.0:0.4957:0.0	4.944	0.13332	803	0.44167	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	774.33	84	chr7	140351274	.	G	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=1082;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.98;SOR=0.374	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr7	140352145	140352145	T	C	exonic	SLC37A3	.	nonsynonymous SNV	SLC37A3:NM_001363375:exon6:c.A377G:p.Y126C,SLC37A3:NM_001287498:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363373:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363374:exon8:c.A620G:p.Y207C,SLC37A3:NM_001363378:exon8:c.A620G:p.Y207C,SLC37A3:NM_032295:exon8:c.A620G:p.Y207C,SLC37A3:NM_207113:exon8:c.A620G:p.Y207C	.	.	.	.	.	.	.	.	0.8060	0.708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.0492185076826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.025	0.69154	D	0.999	0.90584	D	0.982	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	0.33	0.58468	T	-6.33	0.91184	D	0.813	0.85554	-0.0926	0.80268	T	0.416	0.76285	T	10	0.8310435	0.82267	D	0.049219	0.63715	D	0.637	0.86130	0.67	0.80803	0.636059428734	0.63307	0.229082191124717	0.22823	0.983214873192	0.73814	0.862401425838	0.91465	D	0.431005	0.77928	T	0.307217	0.83533	D	0.20352	0.83318	D	0.996373086384468	0.89215	D	0.963104	0.86792	D	0.67820865	0.76873	0.6077026	0.77188	0.67820865	0.76874	0.6077026	0.77189	-10.794	0.79948	D	.	.	0.617	0.69583	P	.;.;.;.	.;.;.;.	5.502685	0.91603	32	0.99110801830414186	0.52725	0.99658	0.98414	D	AEFBI	0.945055	0.95290	D	0.829400411189145	0.87907	9.383085	0.789069641976915	0.89024	9.807984	0.999999980465231	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	7.884000	0.85773	4.213000	0.42544	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.715	0.77425	798	0.45050	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1869.33	78	chr7	140352145	.	T	C	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1096;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.75;SOR=0.798	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1216	18	0	1	0
chr7	140544567	140544583	CAAGAGCGACTGTCATT	-	exonic	DENND2A	.	frameshift deletion	DENND2A:NM_001318053:exon14:c.2362_2378del:p.N788Dfs*19	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.083e-05	0	0	0	0	1.782e-05	0	0.0005	3.84e-05	1	26028	rs764624684	6.508e-05	6.499e-05	4.226e-05	8.814e-05	0.0009	5.436e-05	5.049e-05	0.0006	0.0006	0	0	0	0	0	0.0009	1.351e-05	0.0001	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1679.29	39	chr7	140544566	.	CCAAGAGCGACTGTCATT	C	1679.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.503;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=1.53;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr7	140544588	140544588	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318053:exon14:c.G2357A:p.R786H	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0076773258269	0.0005	.	0.0010	0.0002	0.0004	0.0001	0.0005	0.0012	0.0024	0.0019	0.0008667	134	154602	rs369271982	0.0010	0.0010	0.0009	0.0011	0.0135	0.0009	0.0009	0.0111	0.0102	0.0002	0.0007	0.0002	0.0001	0.0002	0.0135	0.0009	0.0012	0.0025	0.0007	0.0007	0.0005	0.0008	0.0015	0.0006	0.0005	0.0007	0.0007	0.0002	0	0.0009	0	0	0.0007	0.0102	0.0009	0	0.0015	0.141	0.25560	T	0.234	0.24840	T	0.798	0.44840	P	0.191	0.36391	B	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	-0.7	0.19933	N	0.092	0.07125	-1.0107	0.26698	T	0.018	0.07423	T	8	0.010175824	0.00228	T	0.007677	0.20378	T	0.042	0.11227	.	.	0.128874641272	0.12493	.	.	.	.	.	.	.	.	.	.	-0.679009	0.00049	T	-0.754602	0.03310	T	0.00580100250626566	0.00063	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.131	0.11656	T	.	.	0.106	0.19478	B	.	.	0.979020	0.13562	10.09	0.72916559753430643	0.10141	0.16515	0.19425	N	AEFDGBHCI	0.083501	0.16916	N	-0.913242395260432	0.10531	0.503709	-1.07731169119152	0.08147	0.3993666	0.999997118494914	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.87	-0.412	0.11750	0.123000	0.15536	-1.611000	0.05064	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1289:0.4213:0.3723:0.0775	5.602	0.16638	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	39	chr7	140544588	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.952;DP=748;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.117;SOR=0.921	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr7	140544691	140544691	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon13:c.G2254A:p.V752I,DENND2A:NM_001318053:exon14:c.G2254A:p.V752I,DENND2A:NM_001362678:exon14:c.G2254A:p.V752I,DENND2A:NM_015689:exon14:c.G2254A:p.V752I	.	425	1083	13	1	0	15	0.00687758	.	.	.	2219486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00345413763867	.	.	0.0002	0	0.0003	0	0	0.0004	0	0.0001	0.0002199	34	154602	rs374348351	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0.0002	0.0003	0.0017	7.558e-05	0	0.0071	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	7.224e-05	0	0.0005	0.0009	0.0002	0	0.0034	0.0002	0.0005	0.0004	0.073	0.34800	T	0.173	0.34716	T	0.006	0.24313	B	0.033	0.22329	B	0.001883	0.37740	N	0.180616	0.500626	0.31738	D	0.75	0.19020	N	2.85	0.10578	T	-0.6	0.20145	N	0.111	0.09772	-1.0560	0.12776	T	0.018	0.07234	T	10	0.04511541	0.03546	T	0.003454	0.07786	T	0.030	0.07022	0.55	0.66576	0.134007934775	0.12933	0.23198701182130385	0.23113	0.160703966068	0.18139	0.350678920746	0.18021	T	0.013964	0.11978	T	-0.455885	0.01042	T	-0.586647	0.13958	T	0.015043082946588	0.00324	T	0.882912	0.63166	D	0.05198211	0.09629	0.09036727	0.21186	0.05198211	0.09628	0.09036727	0.21186	-8.223	0.62579	D	.	.	0.070	0.05800	B	.;.;.;.;.	.;.;.;.;.	2.408918	0.30961	18.60	0.98976151070024165	0.49640	0.80842	0.40378	D	ALL	0.175550	0.30273	N	-0.350827636737323	0.27241	1.493052	-0.204502282804147	0.31374	1.774962	0.999999942746075	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.95	2.13	0.26445	1.117000	0.30848	-1.581000	0.05125	0.578000	0.29377	1.000000	0.71638	0.000000	0.08366	0.981000	0.58702	0.0:0.6218:0.0:0.3782	8.347	0.31443	620	0.66037	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.010101	0.010870	0.020468	0.000000	0.008621	0.003049	0.003788	0.02632	1121.33	39	chr7	140544691	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.337;DP=742;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.926;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr7	140674618	140674618	A	T	exonic	ADCK2	.	nonsynonymous SNV	ADCK2:NM_052853:exon2:c.A941T:p.H314L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.741	0.147797906709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.998	0.77913	D	0.964	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	0.42	0.56937	T	-9.73	0.98623	D	0.877	0.87590	0.157	0.85181	D	0.458	0.78912	T	10	0.91109407	0.90474	D	0.147798	0.82979	D	0.741	0.91026	0.649	0.78648	0.79846976957	0.79659	0.8680778552594322	0.86772	1.54178038187	0.87722	0.602188229561	0.53213	T	0.264092	0.63583	T	0.364704	0.87610	D	0.286095	0.87449	D	0.999937415122986	0.99782	D	0.871313	0.58729	D	0.9791987	0.99048	0.95211464	0.98525	0.9791987	0.99048	0.95211464	0.98526	-15.372	0.96663	D	.	.	0.895	0.82408	P	.;.	.;.	5.469362	0.91256	32	0.97593868038957277	0.34808	0.96435	0.69125	D	AEFDGBHCI	0.926996	0.90898	D	0.907748664351326	0.92133	11.25197	0.816332653614543	0.90905	10.62457	0.999999999999919	0.74766	0.695654	0.57023	0	0.516746	0.08562	0	0.723109	0.80598	0	0.677038	0.66255	0	.	.	5.47	5.47	0.80345	8.825000	0.91654	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	15.836	0.78578	745	0.52414	UbiB domain;UbiB domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	34	chr7	140674618	.	A	T	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.52;DP=665;ExcessHet=0;FS=4.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.828;SOR=0.313	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1341	18	0	1	0
chr7	140694799	140694799	C	T	exonic	ADCK2	.	nonsynonymous SNV	ADCK2:NM_052853:exon8:c.C1877T:p.P626L	.	430	1074	17	1	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0005	0.00259585	0.0029	0.0004	0.0004	0	0	0.0012	0.0022	0.0163	0.0025161	389	154602	rs55922126	0.0018	0.0018	0.0013	0.0023	0.0151	0.0017	0.0017	0.0144	0.0142	0.0003	0.0003	0.0004	0	5.633e-05	0.0057	0.0010	0.0016	0.0151	0.0010	0.0010	0.0007	0.0013	0.0139	0.0008	0.0008	0.0112	0.0102	0.0001	0	0.0003	0.0003	0.0002	0	0.0034	0.0010	0.0005	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.736760	0.09809	N	0.870827	1	0.08975	N	-0.41	0.02942	N	2.99	0.17761	T	1.04	0.02638	N	0.064	0.03613	-0.9845	0.33951	T	0.019	0.08173	T	10	0.0072919726	0.00166	T	.	.	.	0.019	0.03383	.	.	0.0762999501168	0.06990	0.22791940628773866	0.22706	1.39264144721	0.85030	0.24094453454	0.02876	T	0.001899	0.01317	T	-0.650119	0.00072	T	-0.693653	0.06180	T	0.0611959489277567	0.07355	T	0.553245	0.19112	T	0.02614951	0.01635	0.048387688	0.07176	0.02614951	0.01635	0.048387688	0.07175	-2.601	0.06511	T	.	.	0.083	0.09917	B	.;.	.;.	1.610553	0.20578	14.81	0.97904049985376407	0.36766	0.02344	0.06696	N	AEFBI	0.059739	0.11306	N	-1.29855775868106	0.03694	0.1654428	-1.3274549770825	0.04079	0.1916462	0.152681847867956	0.17466	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.88	-2.63	0.05775	-0.604000	0.05763	-2.394000	0.03809	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.269:0.2802:0.4509	6.723	0.22529	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.007576	0.02632	2678.33	169	chr7	140694799	.	C	T	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=844;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.525;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1482	18	0	1	0
chr7	141664919	141664919	C	T	exonic	DENND11	.	nonsynonymous SNV	DENND11:NM_001080392:exon7:c.G1088A:p.R363Q	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0106361113871	.	.	4.957e-05	0	0	0.0003	0	3.604e-05	0	7.02e-05	3.88e-05	6	154602	rs759216455	2.055e-05	2.052e-05	1.771e-05	2.342e-05	0.0001	1.458e-05	1.265e-05	3.35e-05	1.983e-05	0	2.247e-05	0	0.0001	0	0	1.53e-05	4.974e-05	5.832e-05	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.144	0.25255	T	0.337	0.18178	T	.	.	.	.	.	.	0.000001	0.62929	D	0.057217	0.744138	0.33855	D	.	.	.	.	.	.	-0.61	0.21215	N	0.424	0.47765	-0.7774	0.56448	T	0.137	0.45280	T	9	0.30803233	0.48302	T	0.010636	0.27409	T	0.089	0.25827	0.43	0.47843	0.21279746466	0.20884	0.37220155021636636	0.37134	0.414142546602	0.42099	0.453537285328	0.32427	T	.	.	.	-0.271702	0.11568	T	-0.358758	0.38196	T	0.104959282340405	0.12894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23640	B	.;.	.;.	3.829148	0.55335	23.6	0.998439041867767	0.92403	0.79147	0.39165	D	AEFDBCI	0.374082	0.45912	N	0.171437171627568	0.49831	3.17924	0.290201561212822	0.54966	3.660269	0.999998805256121	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.242000	0.58509	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	17.070	0.86446	675	0.60470	.;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	134	chr7	141664919	.	C	T	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=836;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=2.11;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1484:.	18	0	1	0
chr7	141764263	141764263	G	A	exonic	TAS2R3	.	stopgain	TAS2R3:NM_016943:exon1:c.G105A:p.W35X	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000599042	0.0012	0.0010	0.0006	0	0	0.0019	0.0011	0.0001	0.001313	203	154602	rs138466830	0.0025	0.0025	0.0026	0.0025	0.0031	0.0025	0.0024	0.0030	0.0029	0.0009	0.0013	0	0	0.0002	0.0007	0.0031	0.0029	0.0002	0.0019	0.0019	0.0019	0.0019	0.0045	0.0017	0.0016	0.0037	0.0033	0.0011	0	0.0045	0	0	0.0002	0	0.0025	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.006569	0.31942	N	0.296018	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.14	0.13911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247595	0.78374	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	Low	8.925578	0.98216	39	0.99464074205427988	0.65944	0.92480	0.55810	D	AEFBI	0.115098	0.22645	N	0.719594889146549	0.80917	7.401839	0.591738696741351	0.74346	6.121431	0.0845637343144241	0.15959	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	6.17	4.36	0.51643	1.160000	0.31372	.	.	0.676000	0.76740	0.891000	0.31220	1.000000	0.68203	0.996000	0.76049	0.1458:0.0:0.8542:0.0	11.812	0.51458	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2027.33	42	chr7	141764263	.	G	A	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.032;DP=1089;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.15;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr7	141778696	141778696	G	A	exonic	TAS2R4	.	nonsynonymous SNV	TAS2R4:NM_016944:exon1:c.G208A:p.V70I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00345921736321	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs954008651	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0002	1.265e-05	1.084e-05	3.348e-05	1.981e-05	5.974e-05	0	0	0.0001	1.872e-05	0.0002	1.439e-05	0	3.478e-05	1.972e-05	1.97e-05	0	4.037e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.74	0.03696	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	0.697718	0.06184	N	1.179860	1	0.08975	N	-1.575	0.00449	N	1.24	0.36691	T	-0.19	0.09965	N	0.015	0.00181	-1.0140	0.25656	T	0.061	0.25492	T	10	0.045322806	0.03591	T	0.003459	0.07817	T	0.041	0.10877	0.48	0.55983	0.134241683229	0.13084	0.014063944366342788	0.01363	0.0641853446784	0.07151	0.234711825848	0.02334	T	9.02E-4	0.00463	T	-0.449035	0.01144	T	-0.701256	0.05757	T	0.0851146428982548	0.10628	T	0.340666	0.07366	T	0.038093243	0.05009	0.04051335	0.04396	0.038093243	0.05009	0.04051335	0.04395	-2.442	0.05397	T	.	.	0.073	0.04806	B	.	.	-1.027937	0.00732	0.022	0.5607555868458558	0.05475	0.00475	0.02270	N	AEFBI	0.013696	0.00191	N	-1.38153141757506	0.02811	0.1246802	-1.39264737349203	0.03329	0.1550968	0.00223738616304642	0.09253	0.372202	0.05800	0	0.446627	0.06534	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.57	0.114	0.13945	-0.380000	0.07484	.	.	-2.237000	0.00342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4047:0.1387:0.1583:0.2983	0.439	0.00450	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1997.33	88	chr7	141778696	.	G	A	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=1260;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.907;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1272	18	0	1	0
chr7	142022364	142022364	T	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon7:c.T807A:p.H269Q,MGAM:NM_004668:exon7:c.T807A:p.H269Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.0315373609146	.	.	8.287e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782801521	1.368e-06	1.368e-06	2.723e-06	0	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	0	1.159e-05	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.132	0.31834	T	0.099	0.38891	T	0.794	0.44757	P	0.706	0.54345	P	0.010877	0.29752	N	0.239590	0.917176	0.27377	N	2.125	0.59049	M	-2.6	0.89888	D	-5.33	0.85921	D	0.373	0.42931	-0.1569	0.78747	T	0.598	0.85670	D	10	0.23055106	0.40009	T	0.031537	0.53595	D	0.482	0.77206	0.396	0.42262	0.694950031643	0.69232	0.5062799773042336	0.50549	0.0505422150421	0.05556	0.55636882782	0.46755	T	0.529935	0.83715	D	-0.139405	0.29985	T	-0.212321	0.53473	T	0.940153479576111	0.61224	D	0.714629	0.32694	T	0.115677446	0.27294	0.07075564	0.15071	0.115677446	0.27294	0.07075564	0.15071	-7.761	0.59430	D	.	.	0.337	0.55842	B	.;.;.	.;.;.	-0.188546	0.03150	0.509	0.97817282430478525	0.36168	0.08303	0.14250	N	AEFBI	0.156207	0.28153	N	-0.764073550521018	0.14254	0.7085296	-0.983599253836857	0.10153	0.5095769	0.786629451363248	0.23941	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	-8.35	0.00862	-2.352000	0.01170	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.1014:0.458:0.1038:0.3368	5.309	0.15129	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1475.33	34	chr7	142022364	.	T	A	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=771;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.375;SOR=0.905	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr7	142080890	142080890	A	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.A5947G:p.I1983V	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00320192972171	.	0.000199681	0.0011	0.0001	0.0030	0	0.0002	0.0009	0	0.0019	0.000912	141	154602	rs372881857	0.0006	0.0006	0.0006	0.0007	0.0041	0.0006	0.0006	0.0028	0.0024	0.0001	0.0013	0	0	0.0002	0.0041	0.0006	0.0007	0.0019	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	4.849e-05	0	0.0006	0	0	0.0001	0.0035	0.0008	0.0010	0.0007	.	.	.	0.922	0.02855	T	.	.	.	.	.	.	.	.	.	.	0.999694	0.48338	D	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0366	0.18357	T	0.033	0.14203	T	5	0.012555391	0.00269	T	0.003202	0.07026	T	0.169	0.43123	.	.	0.336400405673	0.33241	.	.	.	.	.	.	.	.	.	.	-0.396585	0.02437	T	-0.44441	0.28315	T	0.0390587572431781	0.03521	T	0.879712	0.59601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.597876	0.33711	19.42	0.59006821580619295	0.06123	0.57980	0.30519	D	AEFDGI	0.114457	0.22543	N	-0.101233334446424	0.37338	2.170947	-0.0554966789366787	0.37253	2.178723	0.0052521786748023	0.10879	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	3.51	0.39297	2.834000	0.47869	.	.	0.751000	0.87719	0.989000	0.36753	1.000000	0.68203	0.994000	0.71098	0.9099:0.0:0.0901:0.0	9.020	0.35355	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2194.33	34	chr7	142080890	.	A	G	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=809;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.89;MQRankSum=1.24;QD=12.12;ReadPosRankSum=0.359;SOR=0.601	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1519	18	0	1	0
chr7	142161153	142161153	G	T	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon22:c.G2374T:p.A792S	.	429	1089	2	0	2	4	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0421442757924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767610531	2.18e-05	1.908e-05	2.773e-05	1.678e-05	0.0005	1.162e-05	9.18e-06	0.0002	0.0001	0.0004	0	0	0	0	0.0005	9.472e-06	3.269e-05	0	6.573e-05	6.568e-05	3.855e-05	9.419e-05	0.0002	3.518e-05	2.617e-05	0.0001	8.457e-05	0.0002	0	6.548e-05	0	0	0	0	0	0	0	0.032	0.44694	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.93	0.61284	D	0.714	0.71676	-0.1665	0.78512	T	0.377	0.73453	T	4	0.76444423	0.76594	D	0.042144	0.60309	D	0.237	0.54074	0.537	0.64730	0.132336055621	0.12781	0.5204417097863002	0.51967	.	.	.	.	.	0.121784	0.44499	T	0.0180597	0.54120	T	-0.211835	0.53520	T	0.973075866699219	0.69949	D	.	.	.	0.103423305	0.24446	0.23010868	0.48103	0.103423305	0.24445	0.23010868	0.48102	-8.345	0.63398	D	.	.	0.261	0.49577	B	.	.	4.018992	0.59351	24.1	0.99754110701727716	0.84537	0.98147	0.80004	D	AEFI	0.884496	0.81422	D	0.382889745901173	0.60494	4.238985	0.411585928412378	0.62284	4.441444	0.994775154192988	0.33794	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	6.482000	0.73521	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.0:1.0:0.0	16.03	0.80374	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	38	chr7	142161153	.	G	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=762;ExcessHet=0;FS=0.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.04;SOR=0.704	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1272	18	0	1	0
chr7	142772171	142772171	G	T	exonic	PRSS2	.	stopgain	PRSS2:NM_001303414:exon2:c.G163T:p.E55X,PRSS2:NM_002770:exon2:c.G163T:p.E55X	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373988778	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0005	0.0005	0	0.0002	0.0003	0	1.872e-05	0.0009	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.72e-05	0.0002	0.0001	2.412e-05	0	0	0.0006	0	9.422e-05	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.921126	0.57248	23.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076000	0.14570	.	.	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	33	chr7	142772171	.	G	T	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.522;DP=3416;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.25;MQRankSum=6.27;QD=6.7;ReadPosRankSum=-0.397;SOR=0.605	GT:AD:DP:GQ:PL	0/0:227,0:227:99:0,120,1800	18	0	1	0
chr7	142773313	142773313	G	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_002770:exon3:c.G248A:p.G83E,PRSS2:NM_001303414:exon4:c.G290A:p.G97E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs751548923	4.79e-05	0.0002	5.991e-05	3.576e-05	6.207e-05	3.861e-05	3.541e-05	4.988e-05	4.57e-05	2.987e-05	0	0	0	0	0	6.207e-05	0	0	7.222e-05	0.0001	0.0001	2.686e-05	0.0002	3.968e-05	3.125e-05	9.048e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.058	0.66756	T	.	.	.	.	.	.	0.000000	0.84330	D	0.089188	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.614	0.68603	0.132	0.84747	D	0.550	0.83527	D	10	0.91851616	0.91209	D	0.15379	0.83500	D	.	.	0.715	0.85051	.	.	0.6039606376462681	0.60327	.	.	0.43368434906	0.29712	T	0.079335	0.85921	T	0.329841	0.85154	D	0.236018	0.84960	D	0.993505120277405	0.84328	D	0.748625	0.36937	T	0.47272354	0.65458	0.65787554	0.79962	0.47272354	0.65458	0.65787554	0.79963	-8.265	0.62861	D	.	.	0.386	0.60068	A	.;.;.;.	.;.;.;.	4.172297	0.62744	24.5	0.99326982048274159	0.59622	0.94022	0.59878	D	AEFBI	.	.	.	0.0799654814585736	0.45529	2.807892	0.0130212056036111	0.40318	2.404278	0.59344749383873	0.21666	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	3.28	0.36691	6.614000	0.74067	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1181:0.0:0.8819:0.0	9.163	0.36194	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	35	chr7	142773313	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=4110;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-4.495;QD=2.51;ReadPosRankSum=-0.388;SOR=0.525	GT:AD:DP:GQ:PL	0/0:274,0:274:99:0,120,1800	18	0	1	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.005848	0.000000	0.000000	0.012195	0.003788	0.05263	5459.83	35	chr7	142940391	.	C	T	5459.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.61;DP=1068;ExcessHet=0.119;FS=0.532;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=2.42;SOR=0.634	GT:AD:DP:GQ:PL	0/1:115,103:218:99:2732,0,2807	17	0	2	0
chr7	142960940	142960940	G	A	exonic	KEL	.	nonsynonymous SNV	KEL:NM_000420:exon4:c.C388T:p.R130W	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0429833690726	.	0.000798722	0.0003	0	8.637e-05	0.0020	0	4.495e-05	0	0.0008	0.0002458	38	154602	rs184131044	0.0001	0.0001	8.712e-05	0.0001	0.0010	9.805e-05	9.221e-05	0.0008	0.0007	0	2.236e-05	0	0.0010	0	0	4.406e-05	0.0001	0.0007	0.0001	0.0001	7.709e-05	0.0001	0.0021	7.087e-05	5.744e-05	0.0012	0.0009	0	0	6.535e-05	0	0.0021	0	0	0	0.0005	0.0008	0.118	0.28148	T	0.14	0.33554	T	0.274	0.31856	B	0.09	0.29851	B	0.323161	0.14237	N	0.616178	1	0.08975	N	1.555	0.39373	L	-1.08	0.77078	T	-4.34	0.82830	D	0.306	0.34552	-1.0160	0.25013	T	0.096	0.36081	T	10	0.01728043	0.00368	T	0.042983	0.60749	D	0.182	0.45420	.	.	0.826507983924	0.82486	0.6054879279944557	0.60479	0.0744873411193	0.08358	0.22043389082	0.01335	T	0.664506	0.89971	D	-0.343539	0.05147	T	-0.301624	0.44553	T	0.0381856219460043	0.03364	T	0.820318	0.47908	T	0.13422726	0.31194	0.08323381	0.19059	0.13422726	0.31194	0.08323381	0.19058	-6.566	0.50793	T	.	.	0.096	0.28319	B	.;.;.	.;.;.	1.785917	0.22706	15.73	0.89690591686997556	0.19016	0.12971	0.17588	N	AEFBCI	0.301353	0.40989	N	-0.516834919168885	0.21535	1.143615	-0.631271228875138	0.18691	0.9996386	0.999730663542596	0.42341	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.84	1.87	0.24559	0.428000	0.21114	.	.	0.676000	0.76740	0.004000	0.16614	0.091000	0.22535	0.117000	0.19042	0.0825:0.0:0.4634:0.4541	6.733	0.22581	661	0.61838	Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1377.33	33	chr7	142960940	.	G	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.401;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr7	143026640	143026640	G	A	exonic	OR9A2	.	nonsynonymous SNV	OR9A2:NM_001001658:exon1:c.C493T:p.R165C	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00271879748178	0.0016	0.00119808	0.0016	0.0005	0.0014	0	0	0.0021	0.0022	0.0018	0.0014359	222	154602	rs143573729	0.0013	0.0013	0.0012	0.0014	0.0031	0.0012	0.0012	0.0020	0.0018	0.0004	0.0018	0.0052	5.038e-05	3.744e-05	0.0031	0.0012	0.0019	0.0021	0.0015	0.0015	0.0015	0.0015	0.0043	0.0013	0.0013	0.0035	0.0032	0.0006	0.0022	0.0043	0.0052	0	0	0	0.0016	0.0009	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000513	0.43753	N	0.000000	0.86264	0.28331	N	-3.205	0.00008	N	9.03	0.00019	T	11.77	0.00000	N	0.13	0.12484	-1.0071	0.27819	T	0.000	0.00039	T	10	0.0026951432	0.00042	T	0.002719	0.05608	T	0.168	0.42943	.	.	0.168933306366	0.16529	0.12376875590794592	0.12302	0.306744063023	0.32978	0.228850781918	0.01884	T	0.004469	0.03877	T	-0.605174	0.00135	T	-0.648852	0.09034	T	0.00684152600085893	0.00077	T	0.320668	0.06474	T	0.08600857	0.19975	0.06789596	0.14109	0.08600857	0.19974	0.06789596	0.14109	4.191	0.00007	T	.	.	0.050	0.00145	B	.	.	1.367775	0.17776	13.36	0.058653004237077068	0.00016	0.02418	0.06834	N	AEFBI	0.024058	0.01430	N	-1.12932618877057	0.06127	0.2812067	-0.842580662349312	0.13465	0.6986969	0.962879284727133	0.28653	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	3.37	0.37692	5.801000	0.68775	5.470000	0.48695	-0.063000	0.16611	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.9037:0.0:0.0963:0.0	8.341	0.31403	851	0.35303	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1964.33	33	chr7	143026640	.	G	A	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=798;ExcessHet=0;FS=6.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.73;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr7	143381749	143381749	G	A	exonic	ZYX	.	nonsynonymous SNV	ZYX:NM_001010972:exon2:c.G178A:p.V60M,ZYX:NM_001362783:exon2:c.G178A:p.V60M,ZYX:NM_003461:exon2:c.G178A:p.V60M	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.658509365838	.	0.00139776	0.0018	0	0.0002	0	0	8.548e-05	0	0.0079	0.000705	109	154602	rs576083969	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	3.103e-05	0.0003	0	2.662e-05	0	0.0030	5.002e-05	0.0006	0.0063	0.0003	0.0003	0.0001	0.0005	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0.0008	0	0	0	0.0034	2.94e-05	0.0005	0.0058	0.022	0.65419	D	0.024	0.59159	D	0.995	0.67487	D	0.766	0.56676	P	0.092877	0.02472	U	3.562510	0.917404	0.39494	D	1.895	0.50365	L	0.16	0.60610	T	-0.72	0.27876	N	0.335	0.37613	-0.6200	0.63989	T	0.425	0.76916	T	10	0.0068773925	0.00156	T	0.658509	0.97126	D	0.226	0.52472	0.114	0.02306	0.723355570506	0.72091	0.2769891412363629	0.27611	0.101851402616	0.11526	0.860972642899	0.91255	D	0.163256	0.50824	T	-0.328147	0.06252	T	-0.241108	0.50690	T	0.1420042089328	0.16446	T	.	.	.	0.13642472	0.31626	0.085104465	0.19625	0.13642472	0.31626	0.085104465	0.19624	-5.103	0.37939	T	.	.	0.765	0.81852	P	.;.;.	.;.;.	4.474868	0.69757	25.4	0.99078205885793791	0.51906	0.91182	0.53021	D	AEFDBHCI	0.912354	0.87287	D	0.39325265449173	0.61055	4.301696	0.327291514343401	0.57150	3.879742	0.999999999976058	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.0	4.0	0.45673	7.946000	0.87231	11.416000	0.92703	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0:0.0:1.0:0.0	13.224	0.59329	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004065	0.000000	0.004076	0.000000	0.000000	0.000000	0.003086	0.007634	0.02632	941.33	33	chr7	143381749	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=694;ExcessHet=0;FS=4.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.333;SOR=0.331	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	18	0	1	0
chr7	143382366	143382368	GGA	-	exonic	ZYX	.	nonframeshift deletion	ZYX:NM_001010972:exon3:c.327_329del:p.E112del,ZYX:NM_001362783:exon3:c.327_329del:p.E112del,ZYX:NM_003461:exon3:c.327_329del:p.E112del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368962801	1.041e-05	1.026e-05	1.102e-05	9.781e-06	0.0002	6.25e-06	4.95e-06	7.913e-05	5.601e-05	0	0.0002	0	0	0	0	6.359e-06	1.686e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2390.79	37	chr7	143382365	.	TGGA	T	2390.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.171;DP=769;ExcessHet=0.119;FS=1.385;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.88;SOR=0.848	GT:AD:DP:GQ:PL	0/1:36,33:69:99:1278,0,1394	17	0	2	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.002717	0.005848	0.050000	0.017241	0.003049	0.011364	0.02632	1718.33	39	chr7	143398373	.	C	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=855;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:62:.:.:0,62,2190:.	9	0	9	1
chr7	143511171	143511171	A	C	exonic	OR10AC1	.	nonsynonymous SNV	OR10AC1:NM_001348289:exon2:c.T740G:p.L247W	.	867	652	2	1	0	4	0.0030581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0096	0	0	0	0	0	0	0.0001811	28	154602	rs555229480	0.0008	0.0006	0.0008	0.0008	0.0015	0.0007	0.0007	0.0009	0.0009	0.0003	0.0007	0	0	0.0001	0	0.0011	0.0006	0.0015	0.0006	0.0006	0.0006	0.0006	0.0023	0.0005	0.0004	0.0013	0.0010	0.0003	0	0.0002	0	0	0	0	0.0009	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1152.33	50	chr7	143511171	.	A	C	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=1094;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=2.56;SOR=0.582	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr7	143720135	143720135	T	C	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon2:c.T584C:p.I195T,TCAF2:NM_001365428:exon2:c.T233C:p.I78T,TCAF2:NM_001363538:exon3:c.T1076C:p.I359T,TCAF2:NM_001365429:exon3:c.T1076C:p.I359T,TCAF2:NM_001365430:exon3:c.T1076C:p.I359T,TCAF2:NM_173678:exon3:c.T1076C:p.I359T	.	510	1011	1	0	0	1	0.000494315	.	.	.	3619481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0131847163855	.	.	0.0005	0.0005	0.0010	0.0047	0	0.0003	0	0.0002	3.84e-05	1	26028	rs745514557	0.0001	0.0001	9.415e-05	0.0001	0.0005	9.27e-05	8.759e-05	0.0004	0.0003	0.0002	9.434e-05	0	0.0005	0.0001	0.0005	7.351e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0002	0.0006	9.759e-05	8.136e-05	0.0002	0.0001	0.0003	0	0	0	0.0006	0	0	7.557e-05	0.0005	0.0004	0.002	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.97	0.72226	D	0.000416	0.44736	N	0.225469	0.835366	0.34982	D	.	.	.	1.58	0.29085	T	-4.23	0.75935	D	0.424	0.54322	-0.7934	0.55532	T	0.162	0.49748	T	10	0.037774086	0.02153	T	0.013185	0.32380	T	0.192	0.47115	.	.	0.112648838833	0.10856	0.8560199374833595	0.85564	.	.	0.486972659826	0.37019	T	0.203639	0.56217	T	-0.348815	0.04802	T	-0.309203	0.43744	T	0.193170607089996	0.20029	T	0.808919	0.48291	T	0.4015814	0.60842	0.2982624	0.55859	0.4015814	0.60842	0.2982624	0.55859	-11.245	0.80984	D	.	.	0.149	0.62018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.097044	0.61058	24.3	0.99775780032958072	0.86346	0.95133	0.63559	D	AEFI	0.548549	0.56179	D	0.365105244953295	0.59541	4.134445	0.22361526686531	0.51160	3.301045	6.64337990991432E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.43	0.923	0.18539	4.686000	0.61388	3.485000	0.38675	0.331000	0.19555	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.2288:0.0:0.7712	6.593	0.21853	773	0.48803	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	599.81	38	chr7	143720135	.	T	C	599.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36.25;QD=26.08;SOR=0.776	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	1	0	0
chr7	143935633	143935633	C	A	exonic	OR2F2	.	nonsynonymous SNV	OR2F2:NM_001004685:exon1:c.C401A:p.A134D	.	.	.	.	.	.	.	.	.	.	.	3466224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00455951978611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.783	0.44368	P	0.282	0.40384	B	0.184250	0.17019	N	0.493190	0.98124	0.25054	N	2.585	0.75554	M	6.64	0.00513	T	-2.63	0.56466	D	0.286	0.32370	-0.8698	0.50544	T	0.002	0.00526	T	10	0.21318123	0.37801	T	0.00456	0.11252	T	0.100	0.28662	0.655	0.79276	0.281381271821	0.27740	0.2033227963804103	0.20249	0.0228964277873	0.02319	0.235775142908	0.02423	T	0.010439	0.09426	T	-0.170843	0.25106	T	-0.483181	0.24108	T	0.85689389705658	0.50771	D	.	.	.	0.5782518	0.71513	0.38568527	0.63479	0.5782518	0.71514	0.38568527	0.63479	-6.703	0.51833	T	.	.	0.147	0.32541	B	.	.	1.584433	0.20273	14.67	0.99117121543296349	0.52880	0.45317	0.27512	N	AEFBI	0.290591	0.40193	N	-0.453303501527686	0.23627	1.270183	-0.583102779269228	0.19934	1.071728	0.999154480295707	0.38592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	0.462	0.15906	-0.394000	0.07357	-3.461000	0.02769	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.591:0.0:0.409	6.188	0.19722	867	0.32089	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3246.33	40	chr7	143935633	.	C	A	3246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.264;DP=1381;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.723;SOR=0.582	GT:AD:DP:GQ:PL	0/0:217,0:217:99:0,120,1800	18	0	1	0
chr7	143960479	143960479	G	C	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.G509C:p.R170T	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00153084040938	0.0002	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs151074585	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	.	.	-1.0343	0.19078	T	0.046	0.19680	T	10	0.004550338	0.00094	T	0.001531	0.02394	T	.	.	.	.	.	.	0.14138761019478494	0.14061	.	.	0.215875655413	0.01085	T	0.001913	0.01327	T	-0.638109	0.00085	T	-0.694924	0.06107	T	0.000408677296945825	0.00003	T	.	.	.	0.075677715	0.17066	0.046788536	0.06597	0.075677715	0.17066	0.046788536	0.06597	-4.331	0.28610	T	.	.	0.106	0.19639	B	.;.	.;.	0.155675	0.05473	1.939	0.41681102300012435	0.03023	0.08868	0.14732	N	AEFI	0.044541	0.07179	N	-1.25506687048483	0.04233	0.1906543	-1.24895860386132	0.05146	0.2445262	1.1627017477394E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	0.236	0.14733	0.057000	0.14157	-7.646000	0.01114	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2724:0.4177:0.2377:0.0722	4.231	0.10054	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.023392	0.000000	0.000000	0.006098	0.003788	0.02632	4410.33	33	chr7	143960479	.	G	C	4410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=854;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.93;MQRankSum=-9.236;QD=19.26;ReadPosRankSum=-0.331;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1365:.	18	0	1	0
chr7	143960480	143960480	A	T	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.A510T:p.R170S	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000883077156626	.	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs61731396	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	0.6	0.15550	N	.	.	.	.	.	.	.	.	-0.9720	0.36776	T	0.030	0.13023	T	10	0.0036379397	0.00066	T	8.83E-4	0.00800	T	.	.	0.454	0.51775	.	.	0.1354492096293793	0.13468	.	.	0.20867651701	0.00756	T	0.001247	0.00734	T	-0.639018	0.00084	T	-0.69623	0.06035	T	0.0144220716429688	0.00291	T	.	.	.	0.16432382	0.36632	0.056810606	0.10218	0.16432382	0.36631	0.056810606	0.10218	-3.616	0.18088	T	.	.	0.133	0.28750	B	.;.	.;.	-1.565289	0.00258	0.004	0.66386461164890254	0.08044	0.03702	0.08981	N	AEFI	0.080821	0.16347	N	-2.31939879886636	0.00041	0.001764759	-2.43342448466552	0.00033	0.001447302	0.99358201896185	0.33273	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	-10.4	0.00257	-5.233000	0.00165	-11.237000	0.00622	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2972:0.1391:0.2308:0.3329	0.452	0.00468	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.023392	0.000000	0.000000	0.006098	0.003788	0.02632	4410.33	33	chr7	143960480	.	A	T	4410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=856;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.96;MQRankSum=-9.236;QD=19.26;ReadPosRankSum=-0.214;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1365:.	18	0	1	0
chr7	144004429	144004429	G	A	exonic	OR6B1	.	nonsynonymous SNV	OR6B1:NM_001005281:exon1:c.G433A:p.A145T	.	423	1097	2	0	0	2	0.000910747	.	.	.	2355336	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0084656196558	0.0005	0.000199681	0.0004	0.0003	0.0003	0	0	0.0006	0.0022	0.0002	0.0004657	72	154602	rs199611986	0.0006	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0003	0.0003	3.826e-05	2.519e-05	0	0.0002	0.0008	0.0005	8.115e-05	0.0004	0.0004	0.0005	0.0004	0.0010	0.0003	0.0003	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0	0.0006	0.0005	0	0.117	0.28271	T	0.081	0.41742	T	0.014	0.16867	B	0.066	0.27432	B	0.222991	0.16094	U	0.446857	1	0.08975	N	1.975	0.53506	M	1.18	0.37746	T	-2.27	0.50666	N	0.066	0.03841	-1.0051	0.28427	T	0.094	0.35658	T	10	0.021441102	0.00513	T	0.008466	0.22407	T	0.057	0.16321	.	.	0.56542871222	0.56207	0.28893609201673026	0.28806	0.10137496304	0.11470	0.247465163469	0.03505	T	0.006137	0.05579	T	-0.471859	0.00828	T	-0.475196	0.24959	T	0.0437117070978054	0.04368	T	.	.	.	0.09947201	0.23476	0.12914696	0.31057	0.09947201	0.23476	0.12914696	0.31057	-5.452	0.41417	T	.	.	0.129	0.27851	B	.;.	.;.	1.398779	0.18123	13.56	0.98232326464742581	0.39405	0.18360	0.20228	N	AEFI	0.091213	0.18478	N	-0.588339617714022	0.19297	1.008886	-0.585597249307344	0.19869	1.067936	0.0205966901198204	0.13272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	4.38	0.52019	1.158000	0.31347	4.877000	0.45627	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.180000	0.21296	0.0:0.1539:0.8461:0.0	13.838	0.62917	889	0.27310	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2654.33	34	chr7	144004429	.	G	A	2654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=1009;ExcessHet=0;FS=5.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.131;SOR=1.04	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	18	0	1	0
chr7	144110246	144110246	G	A	exonic	OR2A2	.	nonsynonymous SNV	OR2A2:NM_001005480:exon1:c.G664A:p.G222R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00214733389379	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs537992045	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0002	1.237e-05	1.051e-05	4.578e-05	3.272e-05	0	0	0	0	0	0.0002	1.259e-05	4.967e-05	9.275e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	6.556e-05	5.24e-06	2.46e-06	8e-06	2.99e-06	4.829e-05	0	6.556e-05	0	0	0	0	0	0	0	0.379	0.11227	T	0.365	0.16717	T	0.001	0.07471	B	0.005	0.11217	B	0.484534	0.05000	U	1.451160	1	0.08975	N	-1.46	0.00541	N	1.41	0.33412	T	0.18	0.05035	N	0.128	0.12198	-1.0202	0.23649	T	0.019	0.07939	T	10	0.025685012	0.00755	T	0.002147	0.04016	T	0.006	0.00375	0.382	0.39970	0.0920862733494	0.08535	0.24879808476859416	0.24793	0.0317240933455	0.03287	0.17323449254	0.00046	T	0.001549	0.00995	T	-0.481364	0.00726	T	-0.747695	0.03576	T	0.0577829703688622	0.06815	T	0.213579	0.02626	T	0.05764907	0.11498	0.06606721	0.13479	0.05764907	0.11498	0.06606721	0.13478	-2.555	0.06168	T	.	.	0.113	0.22245	B	.	.	-0.958769	0.00831	0.028	0.38181170141648019	0.02560	0.00320	0.01682	N	AEFGI	0.033392	0.03951	N	-2.54764879615487	0.00012	0.0005345203	-2.60981642185841	0.00013	0.0005676731	0.999598120241938	0.40745	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-6.94	0.01475	-11.600000	0.00004	-20.000000	0.00162	-2.426000	0.00287	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0846:0.0976:0.5018:0.316	5.495	0.16091	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	33	chr7	144110246	.	G	A	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1054;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.558;SOR=0.714	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr7	144184229	144184229	T	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.T726A:p.N242K,CTAGE4:NM_198495:exon1:c.T726A:p.N242K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00135166170972	.	.	1.014e-05	0	0	0	0	1.8e-05	0	0	3.84e-05	1	26028	rs755715670	4.246e-06	4.176e-06	5.636e-06	2.843e-06	5.56e-06	1.53e-06	1e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	0	6.974e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.039	0.51112	D	0.254	0.31272	B	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.5	0.72771	M	1.34	0.34841	T	-2.9	0.60827	D	0.21	0.23380	-0.9474	0.41414	T	0.103	0.37894	T	8	0.13958481	0.26538	T	0.001352	0.01936	T	0.066	0.19193	0.248	0.18447	0.369309618794	0.36543	0.07207813145129931	0.07144	.	.	0.618998289108	0.55588	T	0.102705	0.41069	T	-0.360377	0.04109	T	-0.685595	0.06647	T	0.144584093388123	0.16663	T	0.779322	0.41328	T	0.16605155	0.36916	0.14269619	0.33939	0.16605155	0.36915	0.14269619	0.33938	-6.341	0.49047	T	.	.	0.193	0.41310	B	.	.	1.358724	0.17673	13.30	0.51605724612386916	0.04593	0.00131	0.00809	N	AEI	0.031641	0.03423	N	-0.766572269902481	0.14187	0.7047054	-0.966634048326421	0.10540	0.531471	9.4109173768131E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.423000	0.21032	-1.183000	0.06091	0.220000	0.18069	0.998000	0.41325	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.4925:0.5075	2.884	0.05307	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1298.33	35	chr7	144184229	.	T	A	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.25;DP=931;ExcessHet=0;FS=6.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.61;MQRankSum=-0.422;QD=4.42;ReadPosRankSum=1.69;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1341	18	0	1	0
chr7	144185419	144185419	C	T	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C1916T:p.P639L,CTAGE4:NM_198495:exon1:c.C1916T:p.P639L	.	548	969	5	0	0	5	0.00257334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0143	0.0088	0	0	0	0.0060	0	0.0570	3.84e-05	1	26028	rs200277728	0.0017	0.0020	0.0015	0.0020	0.0090	0.0017	0.0016	0.0084	0.0082	0.0011	0.0004	0	2.716e-05	0.0034	0.0025	0.0012	0.0019	0.0090	0.0010	0.0013	0.0009	0.0012	0.0095	0.0008	0.0008	0.0061	0.0050	0.0004	0	0.0004	0	0	0.0026	0	0.0010	0.0013	0.0095	0.024	0.47745	D	0.002	0.79402	D	0.999	0.77913	D	0.969	0.72001	D	.	.	.	.	0.999995	0.08975	N	2.8	0.81625	M	1.03	0.40469	T	-5.79	0.88065	D	0.14	0.13911	-0.8814	0.49650	T	0.246	0.61495	T	7	0.009071469	0.00205	T	.	.	.	0.088	0.25558	.	.	0.339555952218	0.33569	0.3269047482058614	0.32603	.	.	0.51393532753	0.40773	T	0.171029	0.51900	T	-0.255278	0.13458	T	-0.604466	0.12438	T	0.065502862962194	0.08005	T	0.957404	0.83962	D	0.082335584	0.18962	0.1524629	0.35868	0.082335584	0.18961	0.1524629	0.35868	-5.27	0.39645	T	.	.	0.114	0.22500	B	.	.	2.254335	0.28799	17.92	0.97048378785617362	0.32142	0.10809	0.16207	N	AEFI	0.038142	0.05353	N	-0.13491343742514	0.35880	2.06652	-0.469214264353895	0.23007	1.252492	7.78365322721045E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.534000	0.35656	-0.675000	0.07915	0.228000	0.18124	1.000000	0.71638	0.000000	0.08366	0.017000	0.10941	.	.	.	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	251.0	12	chr7	144185419	.	C	T	251.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.72;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0404;MLEAC=1;MLEAF=0.028;MQ=26.55;MQRankSum=2.27;QD=6.44;ReadPosRankSum=-2.04;SOR=0.195	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,282	17	0	1	1
chr7	144185835	144185835	T	C	exonic	CTAGE4;CTAGE8	.	stoploss	CTAGE8:NM_001278507:exon1:c.T2332C:p.X778R,CTAGE4:NM_198495:exon1:c.T2332C:p.X778R	.	592	917	11	2	0	15	0.00811249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	0	0.0156	0	0.0185	0.0178	0	0.0020	3.84e-05	1	26028	rs757450466	0.0048	0.0067	0.0049	0.0046	0.0066	0.0046	0.0046	0.0054	0.0054	0.0011	0.0020	0.0072	0	0.0013	0.0066	0.0056	0.0049	0.0018	0.0047	0.0046	0.0051	0.0043	0.0070	0.0044	0.0042	0.0063	0.0060	0.0018	0	0.0056	0.0064	0	0.0011	0.0139	0.0070	0.0039	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.004	0.00025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.23535	0.15948	T	-0.575841	0.14918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763654	0.11336	7.954	0.84533109145910368	0.15348	0.07152	0.13177	N	AEFI	.	.	.	0.227453679692342	0.52533	3.426885	-0.178979374195768	0.32311	1.836973	7.75724767434952E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.057018	0.00518	0	0.0534923	0.11880	.	.	.	0.457000	0.21588	0.391000	0.17890	0.251000	0.18332	0.967000	0.34061	0.142000	0.23101	0.298000	0.24452	.	.	.	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006791	0.000000	0.010417	0.000000	0.000000	0.013514	0.010753	0.000000	0.02632	130.57	14	chr7	144185835	.	T	C	130.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.777;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.026;MQ=28.15;MQRankSum=0.199;QD=5.93;ReadPosRankSum=1.16;SOR=0.223	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	18	0	1	0
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q,ARHGEF35:NM_001368318:exon2:c.G559C:p.E187Q	.	612	876	28	3	3	37	0.019037	.	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	38	chr7	144187825	.	C	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25;MQRankSum=0;QD=8.21;ReadPosRankSum=1.15;SOR=0.521	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,597	18	0	1	0
chr7	144232444	144232444	T	C	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.A400G:p.I134V	.	593	854	43	32	0	107	0.0589532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0101837	0.0220	0.0017	0.0033	0	0	0.0064	0.0053	0.1307	0.0064165	992	154602	rs201592478	0.0073	0.0068	0.0043	0.0098	0.0496	0.0071	0.0070	0.0481	0.0475	0.0005	0.0016	0.0051	2.938e-05	0.0002	0.0224	0.0019	0.0044	0.0496	0.0015	0.0030	0.0013	0.0018	0.0260	0.0012	0.0011	0.0191	0.0168	0.0002	0	0.0017	0.0019	0	0.0003	0	0.0011	0.0013	0.0260	0.101	0.30375	T	0.135	0.34124	T	.	.	.	.	.	.	0.126889	0.18788	U	0.280767	0.999999	0.08975	N	.	.	.	2.13	0.19588	T	-0.77	0.21429	N	0.101	0.08366	-1.0512	0.14064	T	0.033	0.14377	T	9	0.0027412474	0.00043	T	.	.	.	0.028	0.06331	.	.	0.082315109003	0.07666	0.05182640685645484	0.05124	.	.	0.264654278755	0.05458	T	.	.	.	-0.630024	0.00096	T	-0.638286	0.09794	T	0.00264137028716505	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.493190	0.19202	14.14	0.60843909299514987	0.06562	0.03926	0.09316	N	AEFGI	.	.	.	-0.746076387239159	0.14739	0.7368337	-0.795963178384785	0.14594	0.7633378	1.26556962635255E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.77	2.77	0.31614	0.379000	0.20315	-0.095000	0.12011	0.450000	0.21304	0.002000	0.15269	0.000000	0.08366	0.748000	0.35716	0.0:0.0:0.2663:0.7337	6.061	0.19064	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030907	0.013514	0.016287	0.033784	0.000000	0.030612	0.041353	0.036842	0.03571	768.58	33	chr7	144232444	.	T	C	768.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.308;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=33.41;MQRankSum=-0.365;QD=10.39;ReadPosRankSum=0.767;SOR=0.587	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	0	1	5
chr7	144259474	144259474	G	C	exonic	OR2A7	.	nonsynonymous SNV	OR2A7:NM_001005328:exon1:c.C155G:p.S52C	.	438	1069	15	0	0	15	0.00696702	.	.	.	3363365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00204396138299	.	.	0.0009	0.0005	0.0015	0	0	0.0012	0.0012	0.0008	0.0001153	3	26028	rs776485163	0.0002	0.0008	0.0002	0.0002	0.0034	0.0002	0.0002	0.0022	0.0019	0.0001	0.0004	0.0035	0	0	0.0034	0.0001	0.0004	0.0002	0.0004	0.0008	0.0003	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0047	0	0	0.0121	0.0002	0.0016	0.0002	0.205	0.20002	T	0.124	0.35455	T	0.006	0.13644	B	0.014	0.16862	B	.	.	.	.	0.999997	0.08975	N	2.06	0.56677	M	5.33	0.01072	T	-1.42	0.34992	N	0.145	0.14622	-0.9677	0.37673	T	0.006	0.01907	T	9	0.0062807202	0.00142	T	0.002044	0.03721	T	0.022	0.04323	0.516	0.61611	0.221019684889	0.21715	0.11951825726567353	0.11878	.	.	0.190647616982	0.00237	T	0.008313	0.07636	T	-0.548406	0.00298	T	-0.715005	0.05040	T	0.00806284865342751	0.00096	T	.	.	.	0.06710805	0.14502	0.06177702	0.11982	0.06710805	0.14502	0.06177702	0.11982	-5.549	0.42324	T	.	.	0.077	0.06387	B	.;.	.;.	1.989068	0.25272	16.70	0.74091858488675799	0.10567	0.03719	0.09009	N	AEFI	0.087079	0.17656	N	-0.936145140582252	0.10006	0.4761393	-1.00978076446989	0.09570	0.4768497	2.06098153917817E-6	0.01202	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.95	1.02	0.19102	0.032000	0.13620	-0.039000	0.12693	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.380000	0.26335	0.1216:0.1977:0.6807:0.0	5.884	0.18117	947	0.11584	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015659	0.021053	0.024658	0.020661	0.000000	0.017241	0.000000	0.000000	0.02632	1259.33	46	chr7	144259474	.	G	C	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.016;DP=1050;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.16;MQRankSum=0.103;QD=3.9;ReadPosRankSum=-0.798;SOR=0.618	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr7	144268388	144268388	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C863T:p.T288M,CTAGE4:NM_198495:exon1:c.C863T:p.T288M	.	937	581	3	1	0	5	0.00428449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.506179885975	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200264999	0.0022	0.0011	0.0022	0.0023	0.0377	0.0021	0.0020	0.0339	0.0324	0.0017	0.0037	0	0.0377	0	0.0058	0.0006	0.0032	0.0033	0.0013	0.0025	0.0004	0.0022	0.0090	0.0006	0.0004	0.0016	0.0007	0	0	0.0090	0	0	0	0	0.0014	0	0	0.141	0.25560	T	0.306	0.19972	T	0.378	0.34287	B	0.064	0.27215	B	.	.	.	.	1	0.08975	P	0.275	0.09989	N	0.99	0.41750	T	-1.89	0.44094	N	0.068	0.04072	-1.0266	0.21560	T	0.064	0.26420	T	5	0.14179087	0.26939	T	0.50618	0.95229	D	0.011	0.01250	0.2	0.11384	0.159798565429	0.15598	0.12295262932151242	0.12221	.	.	0.541789650917	0.44698	T	0.023806	0.18107	T	-0.338922	0.05463	T	-0.724614	0.04576	T	0.085074760337196	0.10623	T	.	.	.	0.023465531	0.01089	0.10558889	0.25386	0.023465531	0.01088	0.10558889	0.25385	-4.452	0.30256	T	.	.	0.085	0.10304	B	.	.	0.448614	0.08186	4.922	0.33670873421969733	0.02018	0.00247	0.01365	N	AEFI	0.042085	0.06485	N	-0.955764656593615	0.09564	0.4531783	-1.14945540420686	0.06777	0.3274026	1.10942770519523E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.058000	0.14178	-0.898000	0.07002	0.218000	0.18051	0.001000	0.13787	0.000000	0.08366	0.020000	0.11549	.	.	.	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.09091	727.96	25	chr7	144268388	.	G	A	727.96	.	AC=2;AF=0.091;AN=22;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=0.8401;MLEAC=3;MLEAF=0.136;MQ=23.93;QD=28;SOR=6.593	GT:AD:DP:GQ:PL	./.:.:.:.:.	10	1	0	8
chr7	144319004	144319004	G	A	exonic	OR2A1;OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G880A:p.G294R,OR2A1:NM_001005287:exon2:c.G880A:p.G294R	.	748	764	9	1	0	11	0.0071475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0120	0.0078	0	0	0	0.0036	0	0.1026	.	.	.	rs1282864820	0.0038	0.0045	0.0027	0.0048	0.0173	0.0037	0.0036	0.0163	0.0159	0.0005	0.0012	0.0063	0	0.0002	0.0054	0.0026	0.0031	0.0173	0.0020	0.0028	0.0019	0.0022	0.0196	0.0018	0.0018	0.0157	0.0143	0.0003	0	0.0011	0.0060	0.0002	0.0001	0	0.0024	0.0013	0.0196	0.067	0.35918	T	0.09	0.40267	T	.	.	.	.	.	.	0.952443	0.07664	U	1.041620	1	0.08975	N	-1.16	0.00885	N	1.37	0.34253	T	0.69	0.02195	N	0.102	0.08506	-0.9860	0.33590	T	0.022	0.09147	T	8	0.0032540858	0.00056	T	.	.	.	0.014	0.01968	0.447	0.50629	0.165150595986	0.16160	0.07496083586653808	0.07432	.	.	0.193813040853	0.00300	T	0.001541	0.00986	T	-0.312523	0.07529	T	-0.686694	0.06582	T	0.00598924206153479	0.00066	T	0.234177	0.03217	T	0.093617946	0.21991	0.10290255	0.24676	0.093617946	0.21991	0.10290255	0.24675	1.827	0.00061	T	.	.	0.083	0.09191	B	.;.	.;.	0.059318	0.04708	1.344	0.60138749429665128	0.06391	0.00381	0.01927	N	AEFI	0.079888	0.16143	N	-1.33598359763128	0.03272	0.145902	-1.46145638535985	0.02668	0.1231349	2.73440094774957E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.46	-5.32	0.02511	-0.011000	0.12659	-3.640000	0.02638	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.6236:0.0:0.2418:0.1346	6.510	0.21416	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009000	0.000000	0.000000	0.009091	0.000000	0.000000	0.006173	0.051471	0.02632	35.3	3	chr7	144319004	.	G	A	35.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=68;ExcessHet=0;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=7.06;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,139	18	0	1	0
chr7	144363303	144363303	C	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.C634T:p.P212S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0100558227832	.	.	.	.	.	.	.	.	.	.	0.007684	200	26028	rs1208147	6.793e-05	0.0003	6.347e-05	7.243e-05	0.0024	5.703e-05	5.24e-05	0.0020	0.0018	0.0024	6.729e-05	7.661e-05	0	0	0	8.2e-06	0.0001	0	0.0002	0.0010	0.0002	0.0002	0.0006	0.0001	8.917e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0.0005	0	0.545	0.06691	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.000183	0.00507	N	11.057400	1	0.08975	N	-0.895	0.01383	N	-0.61	0.71779	T	0.99	0.01428	N	0.041	0.01421	-1.0353	0.18762	T	0.012	0.04747	T	9	0.046354502	0.03816	T	0.010056	0.26146	T	0.089	0.25827	.	.	0.266843984389	0.26308	0.06077182296519952	0.06017	.	.	0.210763379931	0.00844	T	0.033657	0.23005	T	-0.292443	0.09391	T	-0.657851	0.08411	T	0.103486150503159	0.12736	T	0.216578	0.02710	T	0.026300617	0.01671	0.037522525	0.03422	0.026300617	0.01671	0.037522525	0.03422	-3.174	0.12165	T	.	.	0.058	0.00681	B	.	.	-1.239578	0.00492	0.011	0.25021103931815836	0.01134	0.00088	0.00587	N	AEFI	0.019783	0.00719	N	-1.88534093304723	0.00368	0.01581131	-1.90507211559732	0.00478	0.02119396	5.04030978275033E-5	0.03989	0.693126	0.56070	0	0.623229	0.53319	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.62	-4.93	0.02839	-3.506000	0.00499	-1.945000	0.04454	-0.715000	0.03906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4276:0.3249:0.2476	6.212	0.19846	958	0.09170	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	40.71	34	chr7	144363303	.	C	T	40.71	.	AC=2;AF=0.053;AN=38;DP=1027;ExcessHet=0;FS=0;InbreedingCoeff=0.8829;MLEAC=1;MLEAF=0.026;MQ=25;QD=20.36;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0	18	1	0	0
chr7	144372351	144372351	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon8:c.G3898A:p.V1300I	.	532	984	6	0	0	6	0.00303951	.	.	.	2678707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0125431876207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360049836	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	7.476e-05	4.119e-05	6.752e-05	0.0003	0	0.0014	8.845e-05	0.0001	0.0013	9.735e-05	0.0002	7.78e-05	0.0001	0.0006	5.579e-05	4.387e-05	0.0001	5.016e-05	0	0	0	0	0.0002	0.0001	0	0.0001	0	0.0006	1.0	0.06482	T	0.523	0.12037	T	0.003	0.11197	B	0.004	0.10090	B	0.039511	0.24162	N	0.393295	0.567638	0.32266	D	1.18	0.29980	L	-0.04	0.63240	T	-0.21	0.10308	N	0.055	0.02658	-0.9509	0.40816	T	0.105	0.38440	T	10	0.031908303	0.01333	T	0.012543	0.31203	T	0.066	0.19193	0.392	0.41606	0.0762999501168	0.06990	0.17734939976054376	0.17653	.	.	0.30649253726	0.11377	T	0.076497	0.35433	T	-0.225587	0.17238	T	-0.561816	0.16208	T	0.0112066081597362	0.00164	T	0.815218	0.46991	T	0.017701847	0.00296	0.036302824	0.03051	0.017701847	0.00295	0.036302824	0.03050	-4.985	0.40259	T	.	.	0.061	0.04080	B	.;.	.;.	0.093921	0.04970	1.534	0.71549851739419357	0.09667	0.06998	0.13024	N	AEFI	0.055331	0.10138	N	-1.37692283568445	0.02855	0.126691	-1.35868452357163	0.03705	0.1733548	2.08366695399891E-4	0.05948	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.89	-6.81	0.01543	-0.010000	0.12681	-0.851000	0.07178	-0.712000	0.03928	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.3496:0.0:0.6504:0.0	14.051	0.64261	951	0.11083	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	38.34	17	chr7	144372351	.	G	A	38.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=26.79;MQRankSum=0.546;QD=1.53;ReadPosRankSum=-0.297;SOR=0.05	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr7	144531119	144531119	G	T	exonic	TPK1	.	nonsynonymous SNV	TPK1:NM_001350881:exon9:c.C664A:p.P222T	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000911756561738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0119	0.26322	T	0.045	0.19356	T	5	0.08755943	0.14992	T	9.12E-4	0.00866	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37501	B	.	.	0.195833	0.05813	2.255	0.70680456115124823	0.09375	0.00921	0.03583	N	AEFDGIJ	0.040305	0.05977	N	-0.938702680452341	0.09947	0.473125	-1.14253596574489	0.06903	0.333869	0.299962348957585	0.19178	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.47	0.31	0.15071	0.022000	0.13402	-0.017000	0.12978	-0.163000	0.11536	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.7395:0.0:0.2605:0.0	3.129	0.06031	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	43.94	1	chr7	144531119	.	G	T	43.94	.	AC=2;AF=0.167;AN=12;DP=9;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=21.97;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	1	0	13
chr7	149252726	149252726	G	A	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon4:c.G562A:p.G188R	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00229434534071	0.0022	0.000798722	0.0018	0.0009	0.0011	0	0.0021	0.0026	0.0011	0.0006	0.0017852	276	154602	rs141430858	0.0023	0.0023	0.0024	0.0022	0.0040	0.0022	0.0022	0.0027	0.0025	0.0005	0.0014	3.827e-05	2.519e-05	0.0023	0.0040	0.0026	0.0019	0.0006	0.0018	0.0018	0.0019	0.0018	0.0041	0.0016	0.0016	0.0032	0.0030	0.0007	0	0.0041	0	0	0.0014	0	0.0024	0.0014	0.0004	0.635	0.05076	T	0.241	0.24334	T	0.808	0.45299	P	0.216	0.37572	B	0.783486	0.09453	N	0.890661	0.924148	0.27222	N	0.775	0.19437	N	3.27	0.06602	T	0.48	0.03041	N	0.364	0.40565	-1.0725	0.08873	T	0.017	0.07187	T	10	0.0066052377	0.00150	T	0.002294	0.04397	T	0.128	0.35103	0.294	0.25720	0.260249123532	0.25628	0.22909172068056563	0.22824	0.624697044921	0.56669	0.434802174568	0.29866	T	0.005819	0.05268	T	-0.579026	0.00195	T	-0.605663	0.12340	T	0.019224121630004	0.00628	T	0.691931	0.30130	T	0.078681916	0.17931	0.080437385	0.18195	0.078681916	0.17931	0.080437385	0.18195	-4.888	0.35600	T	.	.	0.278	0.51174	B	.	.	3.446654	0.47969	22.5	0.99909460906672376	0.97949	0.88202	0.48025	D	AEFGBI	0.219113	0.34404	N	0.0868613322850342	0.45851	2.834761	0.198294092405926	0.49755	3.174861	0.984104751341964	0.30665	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	1.301000	0.33052	11.451000	0.92797	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.284	0.65783	929	0.16858	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.010101	0.009511	0.005848	0.000000	0.008621	0.006135	0.000000	0.02632	1122.33	33	chr7	149252726	.	G	A	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=721;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.285;SOR=0.575	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	18	0	1	0
chr7	149266498	149266498	G	A	exonic	ZNF783	.	nonsynonymous SNV	ZNF783:NM_001195220:exon2:c.G188A:p.R63H	.	426	1093	3	0	0	3	0.00137049	.	.	.	2679414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0137069171236	.	.	0.0002	0	8.684e-05	0	0	9.043e-05	0	0.0012	0.0001746	27	154602	rs778915004	0.0001	0.0001	7.626e-05	0.0001	0.0010	9.095e-05	8.601e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0007	4.317e-05	0.0002	0.0010	3.286e-05	3.283e-05	3.855e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0032	4.41e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.005287	0.32928	N	0.000000	0.983788	0.24856	N	1.575	0.39704	L	1.82	0.25018	T	-3.97	0.73684	D	0.651	0.66187	-1.0094	0.27105	T	0.111	0.39888	T	8	0.1761185	0.32579	T	0.013707	0.33318	T	0.142	0.37995	0.391	0.41443	0.0401082797425	0.02173	0.3532436280803842	0.35238	0.947956979236	0.72490	0.509351015091	0.40131	T	.	.	.	-0.384358	0.02924	T	-0.370432	0.36839	T	0.186706086226917	0.19648	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	-9.127	0.68510	D	.	.	0.305	0.53402	B	.	.	4.922941	0.81098	27.5	0.99940393680984629	0.99767	0.74249	0.36320	D	AEFBCI	0.164275	0.29065	N	0.259883155552847	0.54129	3.579333	0.289482101456636	0.54924	3.656176	0.995184375683774	0.33994	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	1.875000	0.39214	8.515000	0.77403	0.676000	0.76740	0.807000	0.29812	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.205	0.59215	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1976.33	34	chr7	149266498	.	G	A	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.604;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr7	149725353	149725353	G	A	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.G1267A:p.A423T,KRBA1:NM_032534:exon10:c.G1165A:p.A389T	.	418	1094	10	0	0	10	0.00454959	.	.	.	2823316	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0053	0.00399361	0.0100	0.0011	0.0063	0	0.0026	0.0156	0.0105	0.0046	0.005498	850	154602	rs76593434	0.0081	0.0081	0.0082	0.0080	0.0095	0.0080	0.0079	0.0094	0.0093	0.0014	0.0040	0.0038	2.555e-05	0.0017	0.0063	0.0095	0.0077	0.0036	0.0055	0.0055	0.0058	0.0052	0.0092	0.0052	0.0051	0.0086	0.0083	0.0017	0.0011	0.0052	0.0029	0	0.0013	0.0034	0.0092	0.0057	0.0050	0.005	0.63226	D	0.141	0.34596	T	0.987	0.61912	D	0.82	0.59072	P	0.000449	0.44317	D	0.000000	0.728976	0.29848	N	1.485	0.37223	L	1.39	0.33842	T	-3.07	0.63207	D	0.709	0.71232	-1.0054	0.28337	T	0.079	0.31466	T	10	0.008336216	0.00189	T	.	.	.	0.087	0.25287	.	.	0.171388866994	0.16791	0.15922367500821374	0.15843	.	.	0.466417253017	0.34190	T	0.172182	0.52057	T	-0.412521	0.01913	T	-0.355939	0.38523	T	0.0142943352742888	0.00284	T	0.858114	0.54842	D	0.08181295	0.18818	0.17428319	0.39813	0.08181295	0.18818	0.17428319	0.39812	-5.374	0.40669	T	.	.	0.195	0.45738	B	.;.;.	.;.;.	4.236154	0.64195	24.7	0.99889557920884342	0.96359	0.66261	0.33017	D	AEFBCI	0.111789	0.22121	N	0.449734198374514	0.64189	4.667821	0.465882866575222	0.65742	4.862538	0.999965224017503	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	4.09	0.47038	2.427000	0.44397	8.358000	0.77024	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1118:0.0:0.8882:0.0	9.516	0.38271	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.02632	1195.33	36	chr7	149725353	.	G	A	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.347;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1331	18	0	1	0
chr7	149765079	149765079	C	T	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1423A:p.V475I	.	425	1061	34	2	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00139776	0.0049	0.0015	0.0114	0	0	0.0099	0	0.0016	0.0017982	278	154602	rs200292588	0.0052	0.0049	0.0052	0.0051	0.0133	0.0050	0.0050	0.0108	0.0098	0.0017	0.0039	0.0049	3.083e-05	0.0003	0.0133	0.0058	0.0054	0.0016	0.0036	0.0036	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0035	0.0081	0	0.0007	0.0274	0.0058	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.124	0.26825	B	0.037	0.23121	B	0.141921	0.18261	U	0.290048	1	0.20048	N	-0.05	0.04954	N	2.48	0.14657	T	-0.08	0.08187	N	0.036	0.01068	-0.9619	0.38819	T	0.015	0.05849	T	10	0.0051863194	0.00113	T	.	.	.	0.028	0.06331	.	.	0.110078149338	0.10416	0.12038871058306477	0.11965	0.90605360512	0.70852	0.896112501621	0.95997	D	0.002422	0.01816	T	-0.710448	0.00032	T	-0.790813	0.02142	T	0.0120901311861236	0.00192	T	0.452755	0.12846	T	0.02658357	0.01734	0.05044717	0.07918	0.02658357	0.01734	0.05044717	0.07917	-5.618	0.42956	T	.	.	0.161	0.35643	B	.	.	1.442480	0.18620	13.84	0.97761160531471991	0.35807	0.05583	0.11485	N	AEFDBHCI	0.075218	0.15099	N	-0.867315500954441	0.11627	0.5620979	-0.751374697420605	0.15689	0.8263525	0.999999362224792	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	3.82	2.94	0.33188	-0.181000	0.09734	3.219000	0.36843	-0.193000	0.09282	0.000000	0.06391	0.282000	0.24114	0.046000	0.14843	0.0:0.8983:0.0:0.1017	10.110	0.41728	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012605	0.011494	0.015449	0.012121	0.000000	0.000000	0.025806	0.000000	0.02632	683.33	44	chr7	149765079	.	C	T	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=724;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.529;SOR=1.061	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1377	18	0	1	0
chr7	149879651	149879651	C	A	exonic	ATP6V0E2	.	nonsynonymous SNV	ATP6V0E2:NM_001100592:exon3:c.C616A:p.Q206K,ATP6V0E2:NM_001289990:exon4:c.C685A:p.Q229K,ATP6V0E2:NM_001367788:exon4:c.C421A:p.Q141K,ATP6V0E2:NM_001367792:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367793:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367794:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367795:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367796:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367797:exon4:c.C301A:p.Q101K,ATP6V0E2:NM_001367791:exon5:c.C301A:p.Q101K	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0003	0.00459265	0.0021	0	0.0008	0	0.0002	0.0004	0.0022	0.0284	0.001727	267	154602	rs201502653	0.0011	0.0013	0.0007	0.0016	0.0191	0.0011	0.0011	0.0182	0.0178	3.609e-05	0.0002	0	2.934e-05	0	0.0031	0.0003	0.0010	0.0191	0.0007	0.0007	0.0004	0.0010	0.0156	0.0006	0.0006	0.0127	0.0117	4.812e-05	0	6.534e-05	0	0	0	0	0.0004	0.0009	0.0156	0.0	0.91255	D	0.0	0.92824	D	0.898	0.52538	P	0.447	0.52426	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.26	0.11185	N	0.102	0.08646	-1.0607	0.11582	T	0.051	0.21767	T	8	0.00352332	0.00063	T	.	.	.	0.046	0.12618	.	.	0.16115917748	0.15686	0.00876500178624088	0.00840	0.254239998198	0.27993	0.301856666803	0.10678	T	.	.	.	-0.517716	0.00454	T	-0.50216	0.22123	T	0.0246623905506258	0.01229	T	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-4.174	0.26374	T	.	.	0.139	0.30476	B	.;.;.;.	.;.;.;.	0.142294	0.05360	1.843	0.90504421581471273	0.19761	0.08883	0.14744	N	AEFBCI	0.068945	0.13625	N	-0.610662937885763	0.18623	0.9683536	-0.783167298757991	0.14907	0.7813976	0.991873855087694	0.32639	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.03	1.08	0.19456	0.309000	0.19094	-0.712000	0.07745	0.537000	0.25018	0.007000	0.17678	0.000000	0.08366	0.081000	0.17303	0.0:0.6814:0.3186:0.0	6.227	0.19925	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.026515	0.02632	1063.33	36	chr7	149879651	.	C	A	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.502;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	18	0	1	0
chr7	150372506	150372506	C	G	exonic	REPIN1	.	nonsynonymous SNV	REPIN1:NM_001099696:exon2:c.C1265G:p.S422W,REPIN1:NM_001362747:exon2:c.C1265G:p.S422W,REPIN1:NM_001099695:exon3:c.C1436G:p.S479W,REPIN1:NM_001362745:exon3:c.C1436G:p.S479W,REPIN1:NM_001362746:exon4:c.C1265G:p.S422W,REPIN1:NM_013400:exon4:c.C1265G:p.S422W	.	.	.	.	.	.	.	.	.	.	.	2293093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0299366443296	8.5e-05	.	0.0001	0	0	0	0	8.423e-05	0	0.0004	4.53e-05	7	154602	rs371101994	9.103e-05	9.03e-05	8.083e-05	0.0001	0.0003	7.775e-05	7.302e-05	0.0002	0.0002	3.128e-05	0	0.0009	0	0	0	7.006e-05	0.0001	0.0003	9.318e-05	9.25e-05	0.0001	8.176e-05	0.0004	5.596e-05	4.418e-05	7.413e-05	4.274e-05	0	0	0	0.0012	0	0	0	0.0001	0	0.0004	0.027	0.46513	D	0.055	0.46862	T	0.992	0.64738	D	0.877	0.62241	P	.	.	.	.	0.999999	0.08975	N	1.365	0.34158	L	2.19	0.18724	T	-2.45	0.53577	N	0.358	0.47395	-1.0398	0.17374	T	0.074	0.29802	T	9	0.112820655	0.21175	T	0.029937	0.52351	D	0.102	0.29158	.	.	0.503923442013	0.50028	0.643611535863368	0.64296	1.86911652642	0.92500	0.896358668804	0.96026	D	0.040442	0.25529	T	-0.346662	0.04940	T	-0.466432	0.25900	T	0.166543594451554	0.18341	T	0.932607	0.77472	D	0.07785789	0.17695	0.088292204	0.20577	0.07785789	0.17695	0.088292204	0.20577	-4.152	0.29326	T	.	.	0.622	0.70430	P	.;.;.;.	.;.;.;.	3.345978	0.46131	22.2	0.98580922320572384	0.43245	0.19119	0.20535	N	AEFBCI	0.346583	0.44135	N	-0.028799755733884	0.40554	2.410368	-0.164500707942325	0.32854	1.873338	0.999995179980933	0.74766	0.741895	0.98168	0	0.697927	0.68747	0	0.778255	0.98755	0	0.714379	0.83352	0	.	.	4.39	2.31	0.27816	-0.082000	0.11268	2.581000	0.33416	0.589000	0.31548	0.000000	0.06391	0.532000	0.25368	0.973000	0.55318	0.213:0.4616:0.2063:0.1191	1.906	0.03079	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	39	chr7	150372506	.	C	G	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=800;ExcessHet=0;FS=3.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.306;SOR=1.005	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	150467101	150467101	C	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon2:c.C403G:p.R135G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0132189459023	.	.	0.0011	0.0002	0.0003	0	0.0051	0.0013	0.0044	0.0005	0.0011643	180	154602	rs143212982	0.0014	0.0014	0.0015	0.0014	0.0016	0.0014	0.0014	0.0015	0.0015	0.0002	0.0004	3.826e-05	0	0.0041	0.0016	0.0016	0.0012	0.0003	0.0012	0.0012	0.0009	0.0015	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0	0.0013	0	0	0.0044	0	0.0014	0	0.0006	0.013	0.53900	D	0.113	0.36901	T	0.954	0.54400	P	0.781	0.57337	P	0.259278	0.15347	N	0.525245	1	0.08975	N	1.72	0.44442	L	0.08	0.61559	T	-3.43	0.67359	D	0.202	0.22357	-0.8864	0.49240	T	0.181	0.52889	T	10	0.010969251	0.00242	T	0.013219	0.32452	T	0.126	0.34673	.	.	0.560872651919	0.55748	0.3957581991430946	0.39490	0.642053577171	0.57782	0.211359262466	0.00870	T	0.03757	0.24522	T	-0.454664	0.01060	T	-0.429861	0.29949	T	0.0728264867829109	0.09042	T	0.681032	0.28992	T	0.1331624	0.30981	0.14464329	0.34333	0.1331624	0.30981	0.14464329	0.34333	-7.255	0.55875	T	.	.	0.135	0.29255	B	.	.	0.259902	0.06385	2.850	0.97687211379868821	0.35352	0.02781	0.07488	N	AEFDBI	0.185510	0.31283	N	-0.719677085443754	0.15469	0.7798497	-0.993915176695477	0.09920	0.496481	0.99999402349655	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.657636	0.52715	0	0.648885	0.59868	0	.	.	4.47	-4.43	0.03319	-2.945000	0.00746	-7.458000	0.01152	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.3892:0.2714:0.0:0.3394	3.572	0.07473	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3985.83	41	chr7	150467101	.	C	G	3985.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=942;ExcessHet=0.119;FS=5.138;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.283;SOR=0.734	GT:AD:DP:GQ:PL	0/1:89,80:169:99:2198,0,2429	17	0	2	0
chr7	150474077	150474077	G	A	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon4:c.G748A:p.V250I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	0.0005	0.0071885	0.0025	0.0007	0	0.0281	0	0.0003	0.0011	0.0019	0.0022833	353	154602	rs79397821	0.0013	0.0013	0.0013	0.0013	0.0340	0.0012	0.0012	0.0325	0.0319	0.0005	0.0001	0.0045	0.0340	3.744e-05	0.0017	7.644e-05	0.0017	0.0016	0.0016	0.0016	0.0013	0.0018	0.0297	0.0014	0.0013	0.0259	0.0245	0.0008	0	0.0001	0.0052	0.0297	0	0	0.0002	0.0014	0.0033	0.96	0.02097	T	0.41	0.14544	T	0.999	0.77913	D	0.997	0.86255	D	0.099209	0.19944	N	0.361375	0.955885	0.26318	N	-0.295	0.03650	N	-0.02	0.62918	T	0.11	0.05706	N	0.066	0.03841	-0.9933	0.31749	T	0.065	0.26772	T	10	0.0041127503	0.00081	T	.	.	.	0.131	0.35738	.	.	0.698418770453	0.69581	0.13604579838439876	0.13528	0.249172828966	0.27491	0.386429339647	0.23164	T	0.002224	0.01623	T	-0.548055	0.00300	T	-0.538389	0.18455	T	0.0257675198812196	0.01374	T	0.588241	0.21547	T	0.021855906	0.00812	0.022958323	0.00313	0.021855906	0.00811	0.022958323	0.00313	-1.172	0.01212	T	.	.	0.085	0.10400	B	.	.	0.819010	0.11898	8.466	0.76983318587576088	0.11688	0.08497	0.14418	N	AEFDBHCI	0.038830	0.05552	N	-0.443253856458047	0.23970	1.290964	-0.588284560006883	0.19797	1.063841	0.986211023230439	0.31024	0.706548	0.73137	0	0.653731	0.59785	0	0.68496	0.61776	0	0.714379	0.83352	0	.	.	4.47	1.32	0.20897	-0.154000	0.10116	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2434:0.2132:0.5434:0.0	3.563	0.07443	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1597.33	33	chr7	150474077	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.26;DP=758;ExcessHet=0;FS=5.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.591;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	18	0	1	0
chr7	150477697	150477697	A	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon5:c.A1915G:p.N639D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.000843053985186	.	.	8.309e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs771913119	1.573e-05	1.573e-05	1.633e-05	1.513e-05	1.978e-05	1.048e-05	8.75e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.366	0.11696	T	0.479	0.11933	T	0.0	0.02946	B	0.0	0.01387	B	0.204929	0.03346	N	1.929950	1	0.08975	N	1.01	0.25309	L	3.4	0.05642	T	-0.6	0.17834	N	0.068	0.04072	-0.9434	0.42073	T	0.014	0.05753	T	10	0.049441785	0.04535	T	8.43E-4	0.00713	T	0.070	0.20419	.	.	0.137902524267	0.13322	0.12921437377611653	0.12846	0.163907645768	0.18491	0.290217220783	0.08954	T	0.007121	0.06537	T	-0.458151	0.01009	T	-0.799024	0.01927	T	0.0379345951569962	0.03320	T	0.263374	0.04265	T	0.031382855	0.02967	0.04410007	0.05638	0.031382855	0.02967	0.04410007	0.05637	-1.815	0.02554	T	.	.	0.074	0.05188	B	.	.	-0.350010	0.02406	0.269	0.8644848041050246	0.16543	0.04370	0.09944	N	AEFDBI	0.040440	0.06017	N	-1.42668090876821	0.02406	0.1062223	-1.50704942166295	0.02289	0.1050608	0.999995888187284	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.93	-4.33	0.03423	0.527000	0.22695	-1.483000	0.05337	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3333:0.0:0.6667:0.0	11.837	0.51602	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	838.33	27	chr7	150477697	.	A	G	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=722;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.401;SOR=0.997	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr7	150628268	150628268	G	A	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244071:exon3:c.C106T:p.R36C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00251118314312	7.7e-05	0.000199681	0.0004	0	0	0	0	7.511e-05	0	0.0027	0.0003234	50	154602	rs369994995	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	2.236e-05	0	2.519e-05	1.872e-05	0.0005	1.979e-05	0.0002	0.0022	0.0001	0.0001	7.708e-05	0.0001	0.0027	7.085e-05	5.742e-05	0.0016	0.0013	7.216e-05	0	0	0	0.0002	0	0	0	0	0.0027	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.29	0.84315	D	0.224	0.25130	-0.8767	0.50020	T	0.094	0.35631	T	5	0.006902069	0.00157	T	0.002511	0.05009	T	0.053	0.14996	.	.	0.136095386433	0.13204	.	.	.	.	.	.	.	.	.	.	-0.788708	0.00009	T	-0.910004	0.00436	T	0.118799872681567	0.14313	T	0.370863	0.08760	T	.	.	.	.	.	.	.	.	-5.702	0.43712	T	.	.	0.100	0.17060	B	.	.	0.013331	0.04373	1.127	0.56552270685452033	0.05577	0.01700	0.05407	N	AEFDBCI	0.024648	0.01560	N	-1.35359572095615	0.03088	0.1373913	-1.60890270835552	0.01602	0.07266613	0.999999997196956	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	3.84	-7.69	0.01124	-3.386000	0.00542	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4864:0.1204:0.3931:0.0	7.348	0.25845	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2609.33	70	chr7	150628268	.	G	A	2609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=921;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.5;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	18	0	1	0
chr7	150628640	150628640	C	G	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.G168C:p.Q56H	.	435	1066	21	0	0	21	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.00119808	0.0039	0.0005	0.0022	0	0.0004	0.0063	0.0048	0.0016	0.0026455	409	154602	rs148793735	0.0044	0.0043	0.0045	0.0043	0.0052	0.0043	0.0043	0.0051	0.0050	0.0007	0.0021	0.0011	0	0.0007	0.0010	0.0052	0.0038	0.0017	0.0030	0.0031	0.0033	0.0027	0.0056	0.0028	0.0027	0.0052	0.0050	0.0006	0	0.0025	0.0006	0	0	0.0034	0.0056	0.0009	0.0021	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.284752	0.03856	U	2.780850	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9842	0.34022	T	0.074	0.29928	T	6	0.0043741465	0.00089	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.20887290885808846	0.20803	.	.	0.261247158051	0.05040	T	.	.	.	-0.462762	0.00945	T	-0.435445	0.29319	T	0.00832272029620834	0.00100	T	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.678230	0.10466	7.185	0.43036293542867998	0.03212	0.04629	0.10294	N	AEFBCI	.	.	.	-0.759156796233761	0.14386	0.7161691	-0.948038266060922	0.10969	0.5559042	0.999612253785756	0.40981	0.096616	0.02514	0	0.100175	0.03081	0	0.063197	0.01477	0	0.089868	0.02511	0	0.131693	0.25914	2.76	0.78	0.17701	0.888000	0.27904	0.322000	0.17195	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2758:0.5809:0.0:0.1433	3.468	0.07122	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	733.33	78	chr7	150628640	.	C	G	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=1.55;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	18	0	1	0
chr7	150958373	150958373	G	C	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_000238:exon4:c.C602G:p.T201R,KCNH2:NM_172056:exon4:c.C602G:p.T201R	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.966492637011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.409	0.26798	T	0.18	0.29046	B	0.058	0.26451	B	0.602050	0.10949	N	0.756542	0.879756	0.35727	D	0	0.06538	N	-4.97	0.98468	D	-0.58	0.17417	N	0.462	0.51583	0.914	0.95880	D	0.865	0.95499	D	10	0.5326347	0.63270	D	0.966493	0.99790	D	0.468	0.76289	0.234	0.16305	0.711447867247	0.70892	0.6579376394127888	0.65730	1.17638985666	0.79878	0.889019966125	0.95138	D	0.350997	0.71863	T	0.144137	0.68717	D	-0.0307332	0.68319	D	0.300200356272017	0.25012	T	0.687731	0.29668	T	0.07958387	0.18189	0.09115865	0.21416	0.07958387	0.18188	0.09115865	0.21416	-2.703	0.07329	T	.	.	0.128	0.27222	B	.;.	.;.	3.241674	0.44252	21.9	0.94029327007284424	0.24143	0.89849	0.50584	D	AEFDBCI	0.677087	0.64190	D	-0.0895411631789838	0.37850	2.208116	0.00755386815250046	0.40065	2.385174	0.999999999972868	0.74766	0.635344	0.42169	0	0.578056	0.33634	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	3.64	3.64	0.40864	4.464000	0.59870	9.259000	0.79546	0.582000	0.30178	0.978000	0.35038	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	11.016	0.46907	862	0.33134	.;PAS-associated, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	34	chr7	150958373	.	G	C	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=795;ExcessHet=0;FS=2.179;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.769;SOR=0.887	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1062	18	0	1	0
chr7	151017076	151017076	G	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon9:c.C2249T:p.P750L	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0252743394265	0.0007	0.000599042	0.0012	0.0004	0.0010	0	0.0004	0.0020	0	0	0.0006145	95	154602	rs202120062	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0011	0.0011	5.995e-05	0.0006	0.0002	0	0.0003	0	0.0012	0.0012	0	0.0008	0.0008	0.0008	0.0008	0.0018	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0018	0.0003	0	0.0002	0	0.0013	0.0009	0	.	.	.	0.22	0.25907	T	0.138	0.27452	B	0.063	0.27082	B	0.000315	0.45977	D	0.154623	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.54409	-0.8221	0.53802	T	0.156	0.48824	T	7	0.011399955	0.00249	T	0.025274	0.48255	D	.	.	.	.	0.51792882206	0.51437	0.5629619132021062	0.56223	.	.	0.44734993577	0.31582	T	0.034306	0.23270	T	-0.251123	0.13960	T	-0.163576	0.58028	T	0.139106437563896	0.16197	T	0.686231	0.29475	T	0.23084469	0.45846	0.26256487	0.52050	0.23084469	0.45847	0.26256487	0.52049	-4.31	0.28316	T	.	.	0.078	0.09288	B	.;.	.;.	3.219604	0.43859	21.8	0.56828862306277128	0.05637	0.91597	0.53861	D	AEFBHCI	0.560071	0.56862	D	-0.25370148816896	0.30957	1.731061	-0.19820022009112	0.31603	1.790042	0.999999999964186	0.74766	0.095506	0.02484	0	0.096583	0.02683	0	0.104817	0.03109	0	0.078985	0.02075	0	.	.	5.33	5.33	0.75683	4.910000	0.63017	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	16.511	0.84132	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001523	0.000000	0.001366	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	538.33	42	chr7	151017076	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.289;DP=684;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.899;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	18	0	1	0
chr7	151024399	151024399	C	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon1:c.G25T:p.G9W	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00159744	0.0026	0	0.0017	0	0	0.0021	0	0.0217	0.0006274	97	154602	rs545139907	0.0005	0.0006	0.0004	0.0006	0.0064	0.0005	0.0005	0.0058	0.0055	7.618e-05	0.0007	0.0039	0.0004	2.417e-05	0.0058	0.0002	0.0009	0.0064	0.0007	0.0007	0.0005	0.0009	0.0081	0.0006	0.0005	0.0061	0.0054	0.0002	0	0.0017	0.0026	0	0	0.0171	0.0002	0.0014	0.0081	.	.	.	0.024	0.56640	D	0.881	0.48446	P	0.275	0.40079	B	0.110496	0.19440	N	0.434947	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.44474	-0.9532	0.40416	T	0.074	0.29897	T	7	0.0054236054	0.00119	T	.	.	.	.	.	.	.	0.441324992753	0.43756	0.16623656053761898	0.16543	.	.	0.422532200813	0.28186	T	0.032365	0.22453	T	-0.337211	0.05584	T	-0.252731	0.49547	T	0.107801700220323	0.13194	T	0.49655	0.15423	T	0.044533964	0.07136	0.066472635	0.13623	0.044533964	0.07136	0.066472635	0.13623	-4.823	0.34858	T	.	.	0.174	0.38172	B	.;.	.;.	2.273833	0.29066	18.00	0.6570393647721422	0.07848	0.67269	0.33372	D	AEFDBCI	0.371147	0.45727	N	-0.327890253594571	0.28092	1.54667	-0.391151531960423	0.25259	1.388052	0.999997272871623	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.056003	0.00319	0	0.079188	0.02158	0	.	.	4.36	1.52	0.22158	0.312000	0.19147	1.317000	0.25577	-0.972000	0.01937	0.988000	0.36536	1.000000	0.68203	0.002000	0.04165	0.0:0.6834:0.0:0.3166	6.588	0.21827	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.009189	0.000000	0.009642	0.013158	0.000000	0.008772	0.013514	0.004000	0.05263	2756.83	37	chr7	151024399	.	C	A	2756.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.776;DP=1061;ExcessHet=0.119;FS=2.313;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.4;SOR=0.712	GT:AD:DP:GQ:PL	0/1:46,68:114:99:1693,0,1090	17	0	2	0
chr7	151050770	151050770	C	G	exonic	ASIC3	.	nonsynonymous SNV	ASIC3:NM_004769:exon4:c.C826G:p.P276A,ASIC3:NM_020321:exon4:c.C826G:p.P276A,ASIC3:NM_020322:exon4:c.C826G:p.P276A	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0782543641156	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778006863	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.62352	D	0.997	0.90584	D	0.974	0.88582	D	0.001882	0.37740	U	0.000000	0.999973	0.53665	D	2.475	0.71894	M	-0.23	0.66652	T	-7.36	0.94647	D	0.568	0.59138	0.079	0.83789	D	0.529	0.82496	D	10	0.75739247	0.76086	D	0.078254	0.72961	D	0.357	0.67782	0.527	0.63263	0.851751493218	0.85032	0.5278378432048194	0.52707	0.46544967757	0.45983	0.598641037941	0.52711	T	0.512638	0.82800	D	0.0553625	0.59029	T	-0.158252	0.58509	T	0.993037641048431	0.83685	D	0.999081	0.99613	D	0.7582439	0.81350	0.84345424	0.91067	0.7582439	0.81351	0.84345424	0.91068	-8.491	0.64713	D	.	.	0.151	0.33458	B	.;.;.	.;.;.	4.524968	0.70976	25.6	0.99584349710920295	0.73218	0.91408	0.53473	D	AEFBCI	0.595253	0.58988	D	0.758347100730128	0.83447	8.020095	0.699210630578699	0.82318	7.737587	0.999999999999996	0.74766	0.59774	0.34471	0	0.588066	0.40923	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.06	5.06	0.67838	5.006000	0.63731	7.557000	0.60396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	16.296	0.82596	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	806.33	65	chr7	151050770	.	C	G	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.145;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	18	0	1	0
chr7	151064872	151064872	G	A	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon4:c.G457A:p.A153T,SLC4A2:NM_001199694:exon4:c.G442A:p.A148T,SLC4A2:NM_001199692:exon5:c.G484A:p.A162T,SLC4A2:NM_003040:exon5:c.G484A:p.A162T	.	.	.	.	.	.	.	.	.	.	.	3911355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0185803873045	0.0002	.	0.0002	0	0.0004	0	0	9.056e-05	0	0.0010	0.0001746	27	154602	rs368228324	0.0001	0.0001	8.713e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	4.473e-05	3.827e-05	0	0	0.0002	7.104e-05	0.0001	0.0010	7.229e-05	7.223e-05	3.854e-05	0.0001	0.0010	3.972e-05	3.128e-05	0.0004	0.0003	0	0	6.543e-05	0	0	0	0	7.352e-05	0	0.0010	0.331	0.13088	T	0.82	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.080011	0.02344	N	1.831260	1	0.08975	N	-0.715	0.01801	N	-0.9	0.74896	T	-0.24	0.11366	N	0.06	0.05162	-0.9413	0.42410	T	0.127	0.43462	T	10	0.0099212825	0.00222	T	0.01858	0.40690	T	0.059	0.16972	.	.	0.372852800391	0.36900	0.20824489460242376	0.20740	0.479168406073	0.46961	0.376864790916	0.21811	T	0.051935	0.29019	T	-0.538092	0.00344	T	-0.602056	0.12640	T	0.0290563501590042	0.01845	T	0.680832	0.30971	T	0.02648569	0.01711	0.030836342	0.01590	0.02648569	0.01711	0.030836342	0.01589	-4.381	0.29298	T	.	.	0.064	0.03479	B	.;.;.;.;.	.;.;.;.;.	-0.805420	0.01096	0.049	0.65315906465054685	0.07738	0.10049	0.15661	N	AEFBHCI	0.054374	0.09882	N	-1.94077770114123	0.00283	0.01212639	-1.98597175978688	0.00328	0.01447297	0.999999999998875	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.24	-9.67	0.00444	-2.097000	0.01436	-2.539000	0.03632	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.634000	0.32262	0.574:0.1845:0.2415:0.0	9.370	0.37412	878	0.29785	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	989.33	36	chr7	151064872	.	G	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=735;ExcessHet=0;FS=4.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.967;SOR=1.341	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1023	18	0	1	0
chr7	151140047	151140047	C	T	exonic	AGAP3	.	nonsynonymous SNV	AGAP3:NM_031946:exon13:c.C1735T:p.R579W,AGAP3:NM_001350103:exon14:c.C697T:p.R233W	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.142218709671	.	.	0.0003	0	0	0	0	0	0	0.0022	0.0001746	27	154602	rs760191238	9.898e-05	0.0001	4.922e-05	0.0001	0.0015	8.552e-05	8.02e-05	0.0013	0.0012	6.028e-05	0	0	0	0	0	5.41e-06	8.32e-05	0.0015	7.879e-05	7.874e-05	8.993e-05	6.715e-05	0.0017	4.494e-05	3.51e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0.0017	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000554	0.43413	D	0.088553	1	0.81001	D	3.12	0.87914	M	-0.53	0.70833	T	-4.26	0.76174	D	0.656	0.73555	-0.0227	0.81783	T	0.473	0.79769	T	10	0.090192646	0.15690	T	0.142219	0.82461	D	0.440	0.74377	0.347	0.34274	0.771798037588	0.76970	0.6347857211889372	0.63412	1.38090304394	0.84778	0.868919968605	0.92414	D	0.342759	0.71149	T	-0.0949224	0.37262	T	0.0607951	0.74298	D	0.412882791234241	0.29425	T	0.991934	0.97468	D	0.30809444	0.53621	0.31203455	0.57207	0.30809444	0.53621	0.31203455	0.57206	-14.932	0.95691	D	.	.	0.883	0.81684	P	.;.	.;.	5.564115	0.92164	32	0.99928361939966204	0.99222	0.94734	0.62146	D	AEFBI	0.742844	0.68634	D	0.623988365597792	0.74694	6.176	0.583017113159557	0.73721	6.017338	0.999999935690159	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	3.866000	0.55752	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.179:0.821:0.0:0.0	12.460	0.55063	934	0.15400	.;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	669.33	33	chr7	151140047	.	C	T	669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.645;DP=699;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.3;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr7	151167030	151167030	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon1:c.G519T:p.E173D	.	373	1146	3	0	0	3	0.00130719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	8.4e-05	0.00239617	0.0021	0	0	0.0001	0	7.877e-05	0.0012	0.0143	0.0016623	257	154602	rs201756310	0.0008	0.0008	0.0004	0.0012	0.0127	0.0008	0.0008	0.0121	0.0118	0	0	0	0	5.654e-05	0.0004	4.421e-05	0.0008	0.0127	0.0005	0.0005	0.0002	0.0008	0.0147	0.0004	0.0004	0.0120	0.0110	2.404e-05	0	0	0	0	9.409e-05	0	8.819e-05	0.0005	0.0147	0.135	0.26192	T	0.428	0.13792	T	0.235	0.30743	B	0.039	0.23607	B	0.011179	0.01299	U	54.387700	0.681541	0.33239	D	0.715	0.18665	N	-2.92	0.91748	D	-0.34	0.12661	N	0.13	0.12484	-1.0086	0.27354	T	0.061	0.25492	T	10	0.00643602	0.00146	T	.	.	.	0.245	0.55201	0.127	0.03251	0.828323270697	0.82669	0.1548539192074891	0.15406	0.671682258587	0.59472	0.820678710938	0.85131	D	0.006406	0.05843	T	-0.355621	0.04383	T	-0.271925	0.47624	T	0.0257982189229172	0.01379	T	0.474053	0.14146	T	0.0943776	0.22188	0.10856257	0.26153	0.0943776	0.22188	0.10856257	0.26152	-3.638	0.18408	T	.	.	0.073	0.04723	B	.	.	2.185542	0.27860	17.61	0.89910045739810118	0.19210	0.71935	0.35230	D	AEFDBCI	0.273623	0.38899	N	-0.150237670903724	0.35225	2.02055	-0.0693083636135143	0.36666	2.136755	0.999990191995976	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.17	3.25	0.36363	0.650000	0.24544	0.722000	0.21020	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.682:0.2079:0.11	5.469	0.15955	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	865.33	18	chr7	151167030	.	C	A	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.843;DP=666;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.391;SOR=0.976	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1359	18	0	1	0
chr7	151197007	151197007	T	C	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon9:c.A1177G:p.M393V	.	926	590	5	1	0	7	0.00589722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.000461	12	26028	rs200397573	0.0005	0.0003	0.0005	0.0005	0.0015	0.0004	0.0004	0.0004	0.0004	0.0001	0.0008	0	0.0002	0.0002	0.0015	0.0005	0.0015	0.0010	0.0005	0.0005	0.0005	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0011	0	0.0010	0.0002	0.0034	0.0005	0.0009	0.0019	.	.	.	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.017893732	0.00385	T	.	.	.	.	.	.	.	0.12205267543	0.11705	0.05514389037176918	0.05455	.	.	.	.	.	0.007496	0.06902	T	-0.773216	0.00012	T	-0.918826	0.00385	T	.	.	.	0.183882	0.01892	T	0.10816448	0.25575	0.26351547	0.52158	0.10816448	0.25575	0.26351547	0.52157	-3.342	0.14285	T	.	.	0.049	0.00109	B	.	.	-0.955716	0.00836	0.029	0.45823347741655868	0.03625	0.00157	0.00941	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.373064344364855	0.19889	0.095506	0.02484	0	0.059962	0.00310	0	0.074216	0.02223	0	0.109499	0.03221	0	0.118504	0.24468	3.99	-1.72	0.07671	-1.622000	0.02145	-1.528000	0.05238	-1.087000	0.01546	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4351:0.1589:0.4059	4.551	0.11510	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2095.33	33	chr7	151197007	.	T	C	2095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.5;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr7	151381438	151381438	G	C	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284261:exon5:c.C755G:p.A252G,WDR86:NM_001284260:exon6:c.C1339G:p.R447G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0212323707735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.306	0.19972	T	.	.	.	.	.	.	0.002647	0.00905	N	5.606180	1	0.08975	N	.	.	.	0.12	0.61089	T	-0.29	0.11728	N	0.037	0.01274	-1.0633	0.10950	T	0.101	0.37543	T	9	0.061727226	0.07783	T	0.021232	0.43966	T	0.026	0.05648	0.245	0.17984	0.199424873507	0.19547	.	.	.	.	.	.	.	.	.	.	-0.0635363	0.42354	T	-0.329042	0.41576	T	0.197643116116524	0.20285	T	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.066	0.10909	T	.	.	0.093	0.13923	B	.;.	.;.	0.483502	0.08529	5.292	0.95791054517188101	0.27831	0.00526	0.02443	N	AEFDBHCI	0.043908	0.06998	N	-1.19110257567877	0.05134	0.2333241	-1.38009446308921	0.03465	0.1616694	0.999996638109194	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	2.27	-4.53	0.03217	-1.493000	0.02403	0.051000	0.14001	-0.467000	0.05102	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2602:0.4:0.3398:0.0	4.301	0.10369	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	753.33	34	chr7	151381438	.	G	C	753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=693;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.214;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	18	0	1	0
chr7	151396015	151396015	C	T	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284260:exon3:c.G487A:p.G163R,WDR86:NM_001284261:exon3:c.G103A:p.G35R,WDR86:NM_001284262:exon3:c.G103A:p.G35R,WDR86:NM_198285:exon3:c.G487A:p.G163R	.	420	1099	3	0	0	3	0.00136302	.	.	.	2373632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0166521535056	.	0.000399361	0.0006	0	0	0	0	0.0008	0.0038	0.0004	0.0003816	59	154602	rs61740829	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	9.015e-05	9.114e-05	0	2.544e-05	5.949e-05	0	0.0009	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0	0.0004	0.554	0.53900	T	0.108	0.47581	T	0.072	0.23997	B	0.036	0.22909	B	0.802945	0.06780	N	1.110520	0.999957	0.19072	N	1.935	0.51832	L	1.73	0.65378	T	-2.2	0.64593	N	0.145	0.40665	-0.9877	0.33175	T	0.146	0.47111	T	9	0.021077573	0.00497	T	0.016652	0.38007	T	0.061	0.17616	0.718	0.85319	0.472663046089	0.46895	0.41491626949396654	0.41407	0.453577322368	0.45046	0.500203073025	0.38857	T	0.045058	0.27007	T	-0.372628	0.03463	T	-0.395977	0.33852	T	0.0160549866799867	0.00385	T	0.727427	0.34485	T	0.06372792	0.13447	0.07295808	0.15800	0.06372792	0.13447	0.07295808	0.15800	-7.074	0.56437	T	.	.	0.115	0.50826	B	.;.;.;.;.	.;.;.;.;.	1.515084	0.19458	14.27	0.99747910615865787	0.84002	0.10318	0.15858	N	AEFDBHCI	0.062956	0.12134	N	-0.684898661915472	0.16451	0.8383215	-0.702313570626136	0.16902	0.896366	0.99573840494738	0.34294	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.75	1.62	0.22817	0.810000	0.26841	0.650000	0.20403	0.545000	0.25583	0.004000	0.16614	0.015000	0.20450	0.055000	0.15596	0.0:0.3797:0.3497:0.2706	4.141	0.09662	964	0.07719	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003817	0.02632	825.33	33	chr7	151396015	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=714;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.539;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	18	0	1	0
chr7	151409583	151409583	C	T	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284260:exon1:c.G7A:p.G3S,WDR86:NM_198285:exon1:c.G7A:p.G3S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0525088019398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241505549	1.619e-06	4.788e-06	1.569e-06	1.671e-06	1.769e-05	2.7e-07	1e-07	.	.	0	0	0	0	0	0	9.939e-07	0	1.769e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.831	0.31235	T	0.657	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-1.78	0.00307	N	0.51	0.60610	T	0.14	0.05706	N	0.11	0.26596	-1.0019	0.29372	T	0.048	0.20672	T	9	0.026828557	0.00841	T	0.052509	0.65097	D	0.113	0.31778	0.249	0.18602	0.0986583533028	0.09354	0.2414707927513571	0.24061	0.364245093393	0.38034	0.676544129848	0.63774	T	0.001636	0.01065	T	-0.106869	0.35287	T	-0.391286	0.34400	T	0.12506304112531	0.14918	T	0.70513	0.31558	T	0.03847952	0.05134	0.08837233	0.20601	0.03847952	0.05134	0.08837233	0.20600	-3.632	0.19318	T	.	.	0.088	0.11558	B	.;.	.;.	2.567971	0.33271	19.29	0.98495739713012653	0.42156	0.33002	0.24723	N	AEFDBHCI	0.125179	0.24156	N	-1.05082992822738	0.07571	0.3521716	-0.878695319352269	0.12599	0.6490484	0.999964557120291	0.48965	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.86	2.01	0.25568	1.724000	0.37685	3.515000	0.38865	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.569000	0.30626	0.0:0.5891:0.0:0.4109	5.243	0.14799	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	207.33	19	chr7	151409583	.	C	T	207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.16;SOR=0.73	GT:AD:DP:GQ:PL	0/0:22,0:22:54:0,54,810	18	0	1	0
chr7	151806945	151806946	AA	-	exonic	LOC644090	.	frameshift deletion	LOC644090:NM_001354885:exon1:c.50_51del:p.K20Afs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.997e-05	0.0002	1.87e-05	2.092e-05	6.118e-05	7.85e-06	4.25e-06	1.623e-05	8.5e-06	0	4.656e-05	0	0	0	0	7.576e-06	0	6.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	100.46	2	chr7	151806944	.	GAA	G	100.46	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.524;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2227;MLEAC=2;MLEAF=0.077;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PL	1/1:0,2:2:6:80,6,0	12	1	0	6
chr7	152205112	152205112	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon25:c.G3955C:p.D1319H	.	448	1056	18	0	0	18	0.0084507	.	.	.	138486	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.501	.	0.0050	0.00239617	0.0085	0.0020	0.0026	0	0.0065	0.0106	0.0069	0.0128	0.0057244	885	154602	rs138119145	0.0067	0.0068	0.0066	0.0069	0.0118	0.0066	0.0066	0.0100	0.0098	0.0009	0.0029	0.0016	2.53e-05	0.0068	0.0118	0.0072	0.0053	0.0106	0.0053	0.0053	0.0053	0.0054	0.0079	0.0050	0.0049	0.0073	0.0071	0.0015	0	0.0058	0.0023	0	0.0069	0.0102	0.0079	0.0038	0.0067	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.879	0.62418	P	0.009870	0.30165	N	0.147317	0.999994	0.58761	D	2.485	0.72352	M	-1.88	0.84557	D	-4.04	0.74427	D	0.453	0.49055	0.439	0.89668	D	0.668	0.88490	D	10	0.009700209	0.00218	T	.	.	.	0.501	0.78413	.	.	0.819569700567	0.81786	0.5195825074040655	0.51881	2.46540379897	0.97448	0.448005527258	0.31672	T	0.387487	0.74839	T	-0.265729	0.12238	T	-0.145083	0.59677	T	0.0124907214302725	0.00206	T	0.910209	0.68156	D	0.3838508	0.59593	0.48335987	0.70089	0.43801832	0.63275	0.49340585	0.70699	-6.57	0.50823	T	0.6025763354653823	0.66969	0.328	0.55082	B	.;.	.;.	4.147716	0.62187	24.4	0.9871961608920109	0.45186	0.99594	0.97801	D	AEFBI	0.666513	0.63495	D	0.794095892349163	0.85734	8.665662	0.79423801030766	0.89390	9.955145	0.999999892431563	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.729000	0.74581	7.558000	0.60417	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.860	0.96779	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.02632	1791.33	34	chr7	152205112	.	C	G	1791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.96;SOR=0.644	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1236	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:232,81:313:99:1193,0,8181	1	0	18	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.07895	344.02	68	chr7	152235831	.	C	G	344.02	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.16;DP=1631;ExcessHet=0.3672;FS=3.14;InbreedingCoeff=-0.0875;MLEAC=3;MLEAF=0.079;MQ=50.5;MQRankSum=-2.006;QD=1.01;ReadPosRankSum=-1.193;SOR=1.089	GT:AD:DP:GQ:PL	0/0:83,10:93:14:0,14,3226	16	0	3	0
chr7	152252652	152252652	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon10:c.A1363G:p.I455V	.	420	1098	4	0	0	4	0.00181818	.	.	.	1591310	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0148220772325	.	0.000599042	0.0003	0	8.853e-05	0	0	4.618e-05	0	0.0016	0.0002135	33	154602	rs534592021	0.0001	0.0001	6.401e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0003	1.08e-05	6.626e-05	0.0018	7.222e-05	7.218e-05	3.856e-05	0.0001	0.0019	3.968e-05	3.125e-05	0.0010	0.0007	0	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0019	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.012569	0.29128	N	0.151633	0.991325	0.24050	N	-1.16	0.00885	N	-1.36	0.80125	T	-0.12	0.08809	N	0.106	0.09066	-1.0185	0.24204	T	0.154	0.48516	T	10	0.011436224	0.00250	T	0.014822	0.35183	T	0.145	0.38592	.	.	0.151262610727	0.14761	0.0625547725681985	0.06195	0.0329200624865	0.03442	0.318076550961	0.13130	T	0.053775	0.29538	T	-0.450849	0.01117	T	-0.455768	0.27061	T	0.0108098637797768	0.00153	T	0.829717	0.49530	T	0.013872361	0.00073	0.023559904	0.00369	0.013872361	0.00072	0.023559904	0.00369	-0.924	0.00919	T	0.04793663820807045	0.00719	0.082	0.08948	B	.;.	.;.	2.087143	0.26551	17.16	0.88717538881568947	0.18199	0.54967	0.29746	D	AEFBI	0.046382	0.07695	N	-0.655468177743683	0.17301	0.8890993	-0.402184532281008	0.24933	1.368187	0.184253096194463	0.17913	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.03	3.05	0.34272	0.885000	0.27865	1.164000	0.24574	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	1.000000	0.97212	0.15:0.6386:0.0:0.2113	6.669	0.22245	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1409.33	148	chr7	152252652	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.627;DP=772;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=2.24;SOR=0.986	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.018652	0.007937	0.019284	0.026316	0.071429	0.008772	0.018657	0.017241	0.07895	210.79	184	chr7	152265205	.	C	G	210.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.079;DP=3675;ExcessHet=0.3672;FS=1.96;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.16;MQRankSum=-5.69;QD=0.25;ReadPosRankSum=-2.272;SOR=1.05	GT:AD:DP:GQ:PL	0/0:222,0:222:99:0,120,1800	16	0	3	0
chr7	154969059	154969059	T	C	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.A1142G:p.H381R	.	419	1094	7	2	0	11	0.00500227	.	.	.	2678938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00759713319504	.	.	0.0001	0	0	0	0	0	0	0.0007	4.53e-05	7	154602	rs772247568	4.74e-05	5.336e-05	3.573e-05	5.955e-05	0.0010	3.81e-05	3.472e-05	0.0004	0.0003	0	5.955e-05	0	0	0	0.0010	1.507e-05	0.0001	0.0005	2.626e-05	2.625e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.112	0.28900	T	0.142	0.33330	T	0.907	0.50062	P	0.276	0.40142	B	0.000859	0.41440	U	0.100459	0.672558	0.33156	D	2.095	0.58118	M	1.03	0.40469	T	-2.97	0.61865	D	0.493	0.53006	-0.8607	0.51213	T	0.133	0.44544	T	10	0.17956463	0.33097	T	0.007597	0.20166	T	0.054	0.15330	0.216	0.13643	0.472611402724	0.46890	0.17942214701278858	0.17861	0.211083843637	0.23619	0.479331880808	0.35965	T	0.427868	0.77720	T	-0.385794	0.02862	T	-0.434458	0.29431	T	0.122719976915623	0.14694	T	0.50295	0.15803	T	0.11902484	0.28033	0.13993303	0.33371	0.11902484	0.28033	0.13993303	0.33370	-3.624	0.18204	T	.	.	0.169	0.37140	B	.;.	.;.	2.574727	0.33367	19.32	0.9173956141637164	0.21037	0.92265	0.55315	D	AEFBI	0.240441	0.36223	N	0.0352313648512142	0.43463	2.638797	0.0701974879351378	0.43058	2.615523	0.731593152916455	0.23054	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	4.2	0.48814	3.040000	0.49489	4.136000	0.42059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.1398:0.8602	12.486	0.55218	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001017	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.003876	0.02632	941.33	42	chr7	154969059	.	T	C	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.09;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1404	18	0	1	0
chr7	155545941	155545941	A	G	exonic	CNPY1	.	nonsynonymous SNV	CNPY1:NM_001369813:exon2:c.T97C:p.C33R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32092136	0.49461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318368	0.06377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.72087	P	.	.	1.085584	0.14688	11.24	0.67017290569402832	0.08229	0.78908	0.39005	D	AEFBI	.	.	.	.	.	.	.	.	.	0.988555147839483	0.31555	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.43108	0.38233	4.94	3.79	0.42757	1.516000	0.35463	2.692000	0.34095	0.756000	0.94297	0.871000	0.30813	0.936000	0.28664	0.294000	0.24357	0.9169:0.0:0.0831:0.0	9.173	0.36256	750	0.51762	Domain of unknown function DUF3456	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	33.61	.	chr7	155545941	.	A	G	33.61	.	AC=2;AF=0.067;AN=30;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=0.2788;MLEAC=2;MLEAF=0.067;MQ=60;QD=16.8;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,76	14	1	0	4
chr7	155741978	155741978	A	G	exonic	RBM33	.	nonsynonymous SNV	RBM33:NM_053043:exon13:c.A2209G:p.I737V	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.00379393	0.0025	0	0.0010	0	0	0.0002	0.0033	0.0171	0.0022186	343	154602	rs372610014	0.0012	0.0012	0.0007	0.0016	0.0168	0.0011	0.0011	0.0161	0.0158	8.961e-05	0.0009	0.0018	0.0001	0	0.0007	4.947e-05	0.0013	0.0168	0.0007	0.0007	0.0004	0.0009	0.0170	0.0006	0.0005	0.0140	0.0129	2.407e-05	0	0.0005	0.0009	0	0	0	5.88e-05	0.0009	0.0170	0.465	0.08609	T	0.98	0.02423	T	0.234	0.30717	B	0.061	0.26820	B	0.254976	0.15431	N	0.624848	1	0.08975	N	1.01	0.25309	L	0.99	0.41750	T	-0.04	0.07590	N	0.086	0.06322	-1.0529	0.13601	T	0.050	0.21378	T	10	0.0026354492	0.00041	T	.	.	.	0.016	0.02506	0.117	0.02508	0.221890330934	0.21812	0.08195250023183537	0.08130	0.157817374054	0.17821	0.250179409981	0.03787	T	0.02169	0.16847	T	-0.659164	0.00064	T	-0.705994	0.05504	T	0.00357622085076583	0.00038	T	0.521048	0.16963	T	0.009982095	0.00005	0.016186789	0.00013	0.009982095	0.00005	0.016186789	0.00013	-1.841	0.02634	T	.	.	0.057	0.00553	B	.	.	-1.301927	0.00437	0.009	0.42504034581531913	0.03138	0.08404	0.14338	N	AEFDGBHCI	0.021757	0.01005	N	-1.35900127845469	0.03033	0.1348383	-1.43453454801127	0.02913	0.1349111	0.999999999799867	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.47	-5.79	0.02162	-0.402000	0.07284	-2.296000	0.03936	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.3212:0.2369:0.4418:0.0	8.015	0.29537	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2656.33	33	chr7	155741978	.	A	G	2656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=863;ExcessHet=0;FS=1.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.194;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr7	155800179	155800179	-	GGGCT	exonic	SHH	.	frameshift insertion	SHH:NM_001310462:exon4:c.367_368insAGCCC:p.P123Qfs*34	Holoprosencephaly 3, Autosomal dominant;Microphthalmia with coloboma 5, Autosomal dominant;Schizencephaly;Single median maxillary central incisor, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2236.29	37	chr7	155800179	.	G	GGGGCT	2236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.615;DP=817;ExcessHet=0;FS=4.42;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.47;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr7	157009752	157009752	G	A	exonic	MNX1	.	nonsynonymous SNV	MNX1:NM_005515:exon1:c.C599T:p.P200L	Currarino syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.949688789703	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392587828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.664	0.41009	P	0.271	0.39904	B	0.001697	0.38271	U	0.000000	1	0.81001	D	1.04	0.26193	L	-3.11	0.92721	D	-3.72	0.70793	D	0.341	0.38232	0.216	0.86180	D	0.652	0.87893	D	9	0.4811707	0.60439	T	0.949689	0.99654	D	0.487	0.77528	0.485	0.56780	0.808758910219	0.80696	0.6898401136077292	0.68924	.	.	0.941939234734	0.99525	D	0.693446	0.91108	D	0.0768296	0.61667	D	-0.127416	0.61187	T	0.963816106319427	0.66770	D	0.841416	0.51702	T	0.31526998	0.54238	0.42820308	0.66541	0.31526998	0.54238	0.42820308	0.66541	-8.952	0.67387	D	0.3837195537475753	0.47779	0.314	0.54079	B	.	.	4.081398	0.60712	24.3	0.99724588232909317	0.82336	0.97370	0.74320	D	AEFDBHCI	0.732814	0.67945	D	0.0284875035884944	0.43153	2.613929	0.0122677762482314	0.40282	2.401632	0.99999999999975	0.74766	0.59774	0.34471	0	0.609123	0.50646	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.92	2.92	0.32998	3.251000	0.51154	11.184000	0.88420	0.490000	0.22344	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	12.603	0.55864	790	0.46189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1687.33	40	chr7	157009752	.	G	A	1687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=778;ExcessHet=0;FS=3.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=3.18;SOR=1.021	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	18	0	1	0
chr7	157216930	157216930	A	G	exonic	UBE3C	.	nonsynonymous SNV	UBE3C:NM_014671:exon14:c.A1873G:p.N625D	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00632943881195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.332	0.18449	T	0.017	0.17573	B	0.004	0.10090	B	0.000005	0.62929	D	0.106423	0.898588	0.36116	D	0.12	0.08593	N	1.0	0.41392	T	-1.54	0.37375	N	0.229	0.25745	-1.0845	0.06498	T	0.080	0.31735	T	10	0.15503111	0.29229	T	0.006329	0.16639	T	0.053	0.14996	0.413	0.45052	0.15499578495	0.15088	0.33734717215800897	0.33647	1.015795043	0.74944	0.64892667532	0.59833	T	0.163841	0.50907	T	-0.246816	0.14492	T	-0.592311	0.13467	T	0.941684007644653	0.61517	D	0.833117	0.50161	T	0.16953287	0.37475	0.15699512	0.36730	0.16953287	0.37475	0.15699512	0.36729	-2.514	0.05877	T	.	.	0.061	0.01109	B	.	.	2.503900	0.32326	19.01	0.99268276866948424	0.57457	0.89819	0.50534	D	AEFBI	0.320136	0.42333	N	-0.150405190863965	0.35218	2.020055	0.0122383457109657	0.40282	2.401533	0.998051379255196	0.36367	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.36	4.22	0.49153	6.190000	0.71980	2.602000	0.33527	0.691000	0.84096	1.000000	0.71638	0.342000	0.24428	0.998000	0.85391	0.9259:0.0:0.0741:0.0	10.784	0.45595	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	544.33	33	chr7	157216930	.	A	G	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=676;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.541;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	18	0	1	0
chr7	157604048	157604048	G	A	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon15:c.C2258T:p.A753V,PTPRN2:NM_130842:exon15:c.C2321T:p.A774V,PTPRN2:NM_130843:exon15:c.C2285T:p.A762V,PTPRN2:NM_001308268:exon16:c.C2441T:p.A814V,PTPRN2:NM_002847:exon16:c.C2372T:p.A791V	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0187896881572	.	0.000399361	0.0009	0	0.0010	0	0	0.0001	0.0034	0.0052	0.0008409	130	154602	rs146720941	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	5.974e-05	0.0006	0.0002	7.557e-05	0	0.0031	5.306e-05	0.0005	0.0063	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.406e-05	0	0.0006	0	0	0	0.0034	0.0001	0.0009	0.0050	0.473	0.12714	T	0.205	0.27145	T	0.157	0.29346	B	0.003	0.16460	B	0.140836	0.18296	N	0.516121	1	0.08975	N	-0.575	0.02294	N	4.18	0.02743	T	-2.18	0.49187	N	0.151	0.15609	-0.8770	0.49997	T	0.005	0.01688	T	10	0.0063737333	0.00144	T	0.01879	0.40966	T	0.057	0.16321	.	.	0.359763055319	0.35592	0.5286014057527064	0.52784	0.206737855118	0.23106	0.346403777599	0.17391	T	0.207026	0.56654	T	-0.538226	0.00343	T	-0.543428	0.17962	T	0.0187020719383918	0.00583	T	0.212779	0.03476	T	0.06369615	0.13438	0.05130058	0.08229	0.06369615	0.13438	0.05130058	0.08228	-4.872	0.35701	T	.	.	0.088	0.11749	B	.;.;.;.;.	.;.;.;.;.	1.204276	0.15965	12.23	0.7196691781180008	0.09810	0.22502	0.21768	N	AEFDBCI	0.160332	0.28625	N	-0.805910044446393	0.13159	0.6463118	-0.786447578764554	0.14827	0.7767897	0.0311315198264662	0.13984	0.676563	0.55306	0	0.573888	0.26702	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	5.28	3.48	0.38946	2.990000	0.49090	1.269000	0.25279	-0.110000	0.15115	0.125000	0.23262	0.001000	0.17328	0.061000	0.16044	0.1346:0.1223:0.7431:0.0	8.891	0.34596	994	0.00715	.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1321.33	38	chr7	157604048	.	G	A	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=803;ExcessHet=0;FS=8.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.223;SOR=1.294	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr7	158735562	158735562	C	T	exonic	ESYT2	.	nonsynonymous SNV	ESYT2:NM_020728:exon20:c.G2383A:p.D795N,ESYT2:NM_001367773:exon21:c.G2446A:p.D816N	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.112495463134	0.0012	0.000599042	0.0012	0	0.0012	0	0	0.0011	0.0022	0.0036	0.0010673	165	154602	rs139531934	0.0007	0.0007	0.0006	0.0008	0.0039	0.0006	0.0006	0.0036	0.0034	2.987e-05	0.0009	0.0119	0	1.872e-05	0.0014	0.0002	0.0012	0.0039	0.0007	0.0006	0.0006	0.0007	0.0025	0.0005	0.0005	0.0014	0.0011	4.81e-05	0	0.0005	0.0101	0	0	0	0.0006	0.0014	0.0025	0.005	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.36	0.68754	T	-3.83	0.73579	D	0.792	0.79696	-0.1774	0.78246	T	0.429	0.77160	T	10	0.015998662	0.00336	T	0.112495	0.79066	D	0.428	0.73517	.	.	0.665914354922	0.66310	.	.	0.742370381414	0.63329	0.821499586105	0.85257	D	0.16184	0.50625	T	-0.321982	0.06736	T	-0.236119	0.51177	T	0.109625920653343	0.13384	T	0.949405	0.80515	D	.	.	.	.	.	.	.	.	-12.346	0.86495	D	.	.	0.979	0.90907	P	.;.;.	.;.;.	4.069308	0.60449	24.2	0.99809048523561794	0.89353	0.96288	0.68409	D	AEFDBCI	0.875214	0.79852	D	0.510739021750627	0.67722	5.119929	0.426275893456407	0.63206	4.549981	0.999999999999998	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	7.409000	0.79273	7.632000	0.62779	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	18.577	0.91115	835	0.38313	.;C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain;C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	2077.33	51	chr7	158735562	.	C	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=1086;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.461;SOR=0.767	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr7	158788024	158788024	T	C	exonic	ESYT2	.	nonsynonymous SNV	ESYT2:NM_001367773:exon6:c.A727G:p.I243V,ESYT2:NM_020728:exon6:c.A727G:p.I243V	.	432	1089	1	0	0	1	0.000458926	.	.	.	4125206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0152660170757	.	.	9.07e-05	0.0002	0	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs554917145	0.0001	0.0001	8.714e-05	0.0001	0.0007	8.715e-05	8.202e-05	0.0004	0.0004	0.0007	2.237e-05	3.827e-05	7.56e-05	0	0.0003	8.545e-05	0.0001	0.0002	0.0002	0.0002	8.992e-05	0.0002	0.0004	0.0001	9.693e-05	0.0003	0.0002	0.0004	0	6.539e-05	0	0	0	0.0034	5.879e-05	0.0005	0.0002	0.98	0.02146	T	0.736	0.05054	T	0.001	0.07471	B	0.003	0.08700	B	0.037591	0.24384	N	0.478526	1	0.08975	N	.	.	.	-0.98	0.75789	T	-0.09	0.08809	N	0.168	0.17828	-0.9167	0.45997	T	0.078	0.31193	T	10	0.03497517	0.01726	T	0.015266	0.35904	T	0.092	0.26621	.	.	0.234412748748	0.23057	.	.	0.156096083841	0.17621	0.307217717171	0.11486	T	0.003053	0.02453	T	-0.362224	0.04006	T	-0.521418	0.20151	T	0.00287833532439507	0.00030	T	0.564843	0.19943	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.072	0.04396	B	.;.;.	.;.;.	-1.276884	0.00458	0.010	0.26881847827700606	0.01308	0.07052	0.13078	N	AEFBI	0.057985	0.10845	N	-1.96785960371026	0.00248	0.01062111	-1.86406553069091	0.00575	0.02553242	0.151971508303022	0.17455	0.744818	0.98587	0	0.743671	0.97443	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.41	-3.4	0.04549	-0.431000	0.07034	-6.145000	0.01483	-2.566000	0.00243	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.0:0.2566:0.336:0.4074	6.814	0.23005	958	0.09170	.;Synaptotagmin, SMP domain|Synaptotagmin-like mitochondrial-lipid-binding domain;Synaptotagmin, SMP domain|Synaptotagmin-like mitochondrial-lipid-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	949.33	33	chr7	158788024	.	T	C	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-2.2;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	18	0	1	0
chr7	158876640	158876640	A	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350914:exon4:c.A384T:p.E128D,DYNC2I1:NM_001350915:exon4:c.A5T:p.K2M,DYNC2I1:NM_018051:exon4:c.A522T:p.E174D	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00417590459596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.091	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.045034	0.23578	N	0.436251	0.999027	0.21700	N	.	.	.	1.81	0.25182	T	-1.11	0.28703	N	0.127	0.12055	-1.0250	0.22083	T	0.047	0.20195	T	10	0.07256076	0.10846	T	0.004176	0.10026	T	0.055	0.15663	0.188	0.09776	0.300110245524	0.29617	0.014763719482595795	0.01433	0.224652461298	0.24998	0.641570150852	0.58788	T	0.005159	0.04603	T	-0.327602	0.06294	T	-0.708354	0.05380	T	0.774872601032257	0.44735	D	0.408059	0.10511	T	0.063306116	0.13316	0.054113314	0.09247	0.063306116	0.13315	0.054113314	0.09247	-4.45	0.30229	T	.	.	0.096	0.15430	B	.	.	1.134913	0.15219	11.68	0.89667264372387145	0.18995	0.38130	0.25919	N	AEFDBI	0.055861	0.10280	N	-0.599688029729934	0.18954	0.9882469	-0.605299196765119	0.19357	1.038163	0.346616466967599	0.19639	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.05	-0.0343	0.13224	-0.273000	0.08580	0.605000	0.19970	0.719000	0.85364	0.590000	0.27666	0.919000	0.28284	0.992000	0.67800	0.5694:0.0:0.2181:0.2125	2.91	0.05381	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	616.33	33	chr7	158876640	.	A	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=682;ExcessHet=0;FS=7.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.155;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr7	159030677	159030677	A	G	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon10:c.T1208C:p.L403P,VIPR2:NM_001304522:exon11:c.T1016C:p.L339P,VIPR2:NM_003382:exon13:c.T1256C:p.L419P	.	416	1105	1	0	0	1	0.000452284	.	.	.	2369855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0077703046631	.	0.000798722	0.0004	0.0027	0	0	0	0.0001	0	0.0001	0.0001682	26	154602	rs548150495	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0018	0.0016	0.0022	7.877e-05	3.944e-05	0	0	0.0011	7.89e-05	0.0002	0.0002	0.0007	0.0007	0.0008	0.0006	0.0025	0.0006	0.0006	0.0021	0.0019	0.0025	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.052	0.44029	T	0.124	0.44106	T	0.007	0.14184	B	0.004	0.10090	B	0.059323	0.22332	N	0.234064	0.999994	0.58761	D	2.22	0.62911	M	0.91	0.47815	T	-0.37	0.15986	N	0.222	0.37093	-1.0440	0.16118	T	0.082	0.32178	T	10	0.006308168	0.00142	T	0.00777	0.20616	T	0.050	0.13987	.	.	0.300110245524	0.29617	0.38484897843574434	0.38399	0.304521195288	0.32758	0.574248790741	0.49277	T	0.076697	0.35481	T	-0.477211	0.00768	T	-0.461622	0.26422	T	0.0331677725106888	0.02498	T	0.737426	0.35417	T	0.21565226	0.44003	0.25574496	0.51262	0.21565226	0.44003	0.25574496	0.51261	-8.518	0.64548	D	.	.	0.061	0.01367	B	.;.;.	.;.;.	2.657482	0.34614	19.68	0.99020475175046363	0.50569	0.79207	0.39206	D	AEFDGBHCI	0.272367	0.38801	N	-0.228186125196108	0.31980	1.798833	-0.0470800674152855	0.37616	2.204945	1.0	0.98316	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	5.23	5.23	0.72570	2.892000	0.48323	9.089000	0.78739	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.9068:0.0:0.0932:0.0	7.786	0.28257	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006743	0.005747	0.005495	0.005988	0.000000	0.018182	0.009554	0.015504	0.02632	723.33	38	chr7	159030677	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.14;DP=708;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.265;SOR=0.756	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1220	18	0	1	0
chr7	159034235	159034235	C	T	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon7:c.G901A:p.G301S,VIPR2:NM_001304522:exon8:c.G709A:p.G237S,VIPR2:NM_003382:exon10:c.G949A:p.G317S	.	406	1105	11	0	0	11	0.00495272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0377106719027	.	0.000998403	0.0013	0	0.0003	0.0003	0	7.666e-05	0.0022	0.0086	0.0010996	170	154602	rs568217175	0.0006	0.0006	0.0004	0.0008	0.0079	0.0006	0.0006	0.0074	0.0072	2.987e-05	8.944e-05	0	0.0002	0	0.0017	0.0001	0.0006	0.0079	0.0003	0.0003	0.0001	0.0005	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0.0001	0	0.0072	0.08	0.41096	T	0.08	0.41913	T	1.0	0.90584	D	1.0	0.97372	D	0.000129	0.49741	D	0.000000	1	0.81001	D	2.035	0.55589	M	1.39	0.33842	T	-4.23	0.78636	D	0.548	0.58287	-0.8555	0.51584	T	0.185	0.53421	T	9	0.011734426	0.00255	T	0.037711	0.57781	D	0.513	0.79156	.	.	0.713953179041	0.71144	0.4882033876028686	0.48740	0.722601246418	0.62293	0.630112946033	0.57161	T	0.30306	0.67543	T	-0.375707	0.03315	T	-0.306197	0.44067	T	0.0975964634608597	0.12090	T	0.950105	0.80888	D	0.3380305	0.56121	0.28150144	0.54132	0.3380305	0.56122	0.28150144	0.54131	-11.591	0.83186	D	.	.	0.121	0.27252	B	.;.;.	.;.;.	3.849965	0.55766	23.7	0.99826325574887831	0.90852	0.96317	0.68548	D	AEFDBI	0.908330	0.86350	D	0.489713512453256	0.66488	4.956548	0.411622505538091	0.62288	4.44171	0.999999999999939	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	4.578000	0.60640	2.643000	0.33766	0.549000	0.26987	1.000000	0.71638	0.992000	0.31684	0.118000	0.19084	0.0:1.0:0.0:0.0	15.040	0.71448	982	0.03397	GPCR, family 2-like;.;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1116.33	38	chr7	159034235	.	C	T	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=706;ExcessHet=0;FS=2.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.896;SOR=1.07	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr7	159103833	159103833	G	A	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001304522:exon4:c.C281T:p.T94M,VIPR2:NM_003382:exon4:c.C281T:p.T94M	.	.	.	.	.	.	.	.	.	.	.	3345718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.0864093053315	.	.	8.24e-05	0	0.0003	0.0001	0	8.994e-05	0	0	7.76e-05	12	154602	rs539276528	0.0001	0.0001	0.0001	9.626e-05	0.0002	9.468e-05	8.95e-05	0.0001	9.247e-05	2.987e-05	0.0002	3.826e-05	2.519e-05	0	0	0.0001	0.0003	1.159e-05	7.23e-05	7.224e-05	0.0001	4.036e-05	0.0002	3.972e-05	3.128e-05	4.765e-05	3.339e-05	0	0	6.546e-05	0	0.0002	0	0	0.0001	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000066	0.52346	D	0.000000	0.999955	0.52396	D	3.04	0.86592	M	-0.28	0.67543	T	-5.48	0.85844	D	0.634	0.69825	-0.0295	0.81641	T	0.483	0.80255	T	9	0.77783537	0.77605	D	0.086409	0.74731	D	0.492	0.77847	.	.	0.60515314879	0.60199	0.768010220200769	0.76750	0.74072417592	0.63247	0.567842483521	0.48372	T	0.387883	0.74869	T	-0.117299	0.33568	T	-0.108709	0.62715	T	0.792086958885193	0.45826	D	0.990021	0.97222	D	0.74012685	0.80299	0.56290865	0.74706	0.74012685	0.80301	0.56290865	0.74707	-10.69	0.77930	D	.	.	0.418	0.60555	A	.;.	.;.	4.953646	0.81849	27.6	0.99854718358119865	0.93368	0.87280	0.46771	D	AEFGBI	0.557740	0.56724	D	0.478842127855157	0.65855	4.875375	0.350348248125942	0.58529	4.023884	0.99999998918011	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	5.695000	0.67940	11.102000	0.86142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.495000	0.28905	0.0:0.0:1.0:0.0	14.155	0.64942	982	0.03397	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1484.33	33	chr7	159103833	.	G	A	1484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=844;ExcessHet=0;FS=3.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-2.213;SOR=0.837	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1336	18	0	1	0
chr8	166405	166405	C	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.G620C:p.C207S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00104509009677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.348e-06	6.232e-06	5.13e-06	9.373e-06	8.112e-06	1.96e-06	5.4e-07	1.35e-06	5.1e-07	0	0	0	0	0	0	8.112e-06	4.19e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	0.004351	0.33837	N	0.134015	1	0.08975	N	-0.975	0.01213	N	1.25	0.36512	T	2.7	0.00190	N	0.079	0.05414	-0.9479	0.41330	T	0.021	0.08639	T	10	0.047605813	0.04099	T	0.001045	0.01167	T	0.061	0.17616	0.472	0.54699	0.0401082797425	0.02173	0.17172873827331003	0.17092	.	.	0.311753243208	0.12171	T	0.005993	0.05431	T	-0.323474	0.06617	T	-0.702425	0.05694	T	0.0675660818815231	0.08305	T	0.616838	0.23625	T	0.062261052	0.12985	0.065350495	0.13232	0.062261052	0.12985	0.065350495	0.13232	-3.422	0.15354	T	.	.	0.113	0.22428	B	.	.	0.352541	0.07257	3.857	0.68040857203906435	0.08537	0.00837	0.03359	N	AEFI	0.026595	0.02024	N	-1.13685051193403	0.05999	0.2750161	-1.02053598050707	0.09334	0.4637884	1.20189838713818E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	0.856	0.18156	-0.406000	0.07249	-1.308000	0.05755	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.507:0.493:0.0	6.849	0.23189	994	0.00715	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	59.57	4	chr8	166405	.	C	G	59.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=159;ExcessHet=0;FS=6.021;InbreedingCoeff=0.0198;MLEAC=1;MLEAF=0.026;MQ=22.81;MQRankSum=1.15;QD=14.89;ReadPosRankSum=1.15;SOR=2.788	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,66	18	0	1	0
chr8	245338	245338	G	A	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.G491A:p.C164Y,ZNF596:NM_001042416:exon6:c.G491A:p.C164Y,ZNF596:NM_001287254:exon6:c.G491A:p.C164Y,ZNF596:NM_001287255:exon6:c.G491A:p.C164Y,ZNF596:NM_001287256:exon6:c.G491A:p.C164Y,ZNF596:NM_001287399:exon6:c.G92A:p.C31Y,ZNF596:NM_173539:exon6:c.G491A:p.C164Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00279553	0.0042	0.0006	0.0018	0	0.0154	0.0056	0.0088	0	0.0040362	624	154602	rs111707578	0.0041	0.0041	0.0041	0.0041	0.0043	0.0040	0.0040	0.0042	0.0042	0.0004	0.0019	7.654e-05	0	0.0176	0.0002	0.0043	0.0032	8.117e-05	0.0036	0.0036	0.0031	0.0042	0.0041	0.0034	0.0033	0.0037	0.0036	0.0006	0	0.0024	0	0	0.0188	0.0034	0.0041	0.0057	0	0.022	0.48642	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998421	0.22162	N	0.48	0.13178	N	2.49	0.14531	T	0.71	0.02130	N	0.069	0.04307	-1.0269	0.21462	T	0.020	0.08500	T	9	0.005536288	0.00122	T	.	.	.	0.080	0.23350	.	.	0.202949470691	0.19918	0.019458306444240958	0.01899	0.00140046893544	0.00121	0.243098884821	0.03076	T	0.004502	0.03907	T	-0.665764	0.00058	T	-0.727181	0.04456	T	0.00737238737397321	0.00085	T	9.999E-4	0.00002	T	0.08921573	0.20838	0.09712342	0.23105	0.08921573	0.20837	0.09712342	0.23104	-1.325	0.01442	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	0.214527	0.05978	2.417	0.39601582863277635	0.02743	0.00006	0.00120	N	AEFGBCI	0.035922	0.04705	N	-1.21695646062496	0.04754	0.2152144	-1.22197566465868	0.05558	0.2651705	0.00230135884248876	0.09310	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.421255	0.06892	1	.	.	2.33	-1.84	0.07387	0.725000	0.25638	-0.738000	0.07632	-0.793000	0.03229	0.667000	0.28322	0.000000	0.08366	0.023000	0.12082	0.5069:0.0:0.3025:0.1906	3.486	0.07182	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2513.33	34	chr8	245338	.	G	A	2513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=1040;ExcessHet=0;FS=2.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.39;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	245524	245524	A	T	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.A677T:p.H226L,ZNF596:NM_001042416:exon6:c.A677T:p.H226L,ZNF596:NM_001287254:exon6:c.A677T:p.H226L,ZNF596:NM_001287255:exon6:c.A677T:p.H226L,ZNF596:NM_001287256:exon6:c.A677T:p.H226L,ZNF596:NM_001287399:exon6:c.A278T:p.H93L,ZNF596:NM_173539:exon6:c.A677T:p.H226L	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00115831006178	0.0008	0.00139776	0.0008	9.619e-05	0.0015	0	0	0.0010	0.0022	0.0006	0.0008279	128	154602	rs117000175	0.0007	0.0007	0.0007	0.0008	0.0102	0.0007	0.0007	0.0081	0.0074	0.0006	0.0019	0.0009	0	0	0.0102	0.0006	0.0012	0.0009	0.0009	0.0010	0.0009	0.0010	0.0040	0.0008	0.0008	0.0032	0.0029	0.0002	0	0.0040	0.0006	0	0	0.0340	0.0007	0.0024	0.0017	0.126	0.27194	T	0.018	0.59732	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.385	0.03041	N	2.62	0.12988	T	-3.88	0.72710	D	0.17	0.18239	-0.9854	0.33735	T	0.012	0.04747	T	9	0.0056350827	0.00125	T	0.001158	0.01459	T	0.028	0.06331	.	.	0.184867976434	0.18130	0.01811527253717236	0.01765	0.00235242544378	0.00204	0.341484248638	0.16660	T	0.04669	0.27500	T	-0.58859	0.00171	T	-0.625029	0.10794	T	0.00526502202671645	0.00057	T	0.0927907	0.00688	T	0.25944582	0.48998	0.158705	0.37048	0.25944582	0.48998	0.158705	0.37047	-5.739	0.44039	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	2.034203	0.25852	16.91	0.82173823889056663	0.14056	0.00003	0.00079	N	AEFDBHCI	0.046258	0.07661	N	-1.06195813269749	0.07354	0.3413807	-1.0999105980027	0.07702	0.3757173	0.0033413775384499	0.10067	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.645948	0.59608	0	.	.	2.63	1.48	0.21900	-0.640000	0.05537	1.376000	0.25995	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.5951:0.2601:0.1447:0.0	2.975	0.05572	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.005051	0.023098	0.023392	0.000000	0.017241	0.012195	0.003788	0.02632	1862.33	34	chr8	245524	.	A	T	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=962;ExcessHet=0;FS=2.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.098;SOR=0.671	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1876,0,1689	18	0	1	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S	.	943	554	20	5	0	30	0.026362	.	.	.	3210342	DLGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	739.33	33	chr8	737814	.	G	T	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.087;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,976	18	0	1	0
chr8	1548827	1548827	C	G	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C374G:p.A125G	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0094776966078	.	.	0.0001	0	0	0	0.0016	0.0001	0	0	5.17e-05	8	154602	rs753583566	3.642e-05	4.446e-05	3.749e-05	3.532e-05	0.0005	2.828e-05	2.561e-05	0.0001	7.888e-05	0	4.658e-05	0	0	0.0006	0.0005	1.91e-05	3.38e-05	0	6.572e-05	6.567e-05	6.424e-05	6.726e-05	1.47e-05	3.517e-05	2.616e-05	.	.	0	0	0	0	0	0.0008	0	1.47e-05	0	0	.	.	.	0.317	0.19304	T	0.611	0.39680	P	0.07	0.27859	B	0.024236	0.26299	N	0.465951	1	0.08975	N	0.675	0.16386	N	.	.	.	.	.	.	0.314	0.35408	-1.0329	0.19522	T	0.079	0.31496	T	10	0.027062178	0.00859	T	0.009478	0.24832	T	0.077	0.22490	0.112	0.02175	0.165150595986	0.16160	0.1725875137534764	0.17178	0.117517440466	0.13235	0.514366865158	0.40834	T	0.009727	0.23699	T	-0.445118	0.01206	T	-0.696246	0.06033	T	0.0678141469227483	0.08341	T	0.787921	0.44184	T	0.036723398	0.04572	0.09386044	0.22191	0.036723398	0.04572	0.09386044	0.22191	-5.042	0.37293	T	.	.	0.083	0.10304	B	.;.;.	.;.;.	2.735396	0.35818	20.0	0.98343006976186587	0.40457	0.63168	0.32005	D	AEFDBHCI	0.326763	0.42793	N	-0.188486733411212	0.33612	1.908963	-0.178920615688711	0.32313	1.837128	0.999996279085486	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.613276	0.41899	0	.	.	4.89	4.01	0.45821	3.792000	0.55181	1.054000	0.23662	0.597000	0.34315	0.772000	0.29380	0.000000	0.08366	0.132000	0.19645	0.0:0.9215:0.0:0.0785	13.054	0.58379	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	714.33	37	chr8	1548827	.	C	G	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=789;ExcessHet=0;FS=6.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.792;SOR=1.08	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1619	18	0	1	0
chr8	2001252	2001252	-	GAGAGC	exonic	KBTBD11	.	nonframeshift insertion	KBTBD11:NM_014867:exon2:c.60_61insGAGAGC:p.E25_G26insSE	.	254	1263	5	0	0	5	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0049	0	0	0	0	0	0	0.0078	0.0002305	6	26028	rs560567428	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0042	7.073e-05	0.0003	0	0.0002	0	0.0011	0.0001	0.0005	0.0048	0.0002	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	899.29	33	chr8	2001252	.	G	GGAGAGC	899.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=674;ExcessHet=0;FS=1.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=0.612;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	18	0	1	0
chr8	2085368	2085368	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.C1622T:p.P541L	.	.	.	.	.	.	.	.	.	.	.	3203664	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.311	0.0450414772411	0.0010	0.00159744	0.0015	0.0004	0.0005	0.0041	0.0002	0.0017	0	0.0012	0.0015265	236	154602	rs144063996	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0011	0.0012	0.0011	0.0003	0.0006	0.0049	0.0013	0.0001	0.0016	0.0012	0.0017	0.0007	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0011	0.0008	0.0004	0	0.0013	0.0046	0.0019	0	0	0.0009	0.0005	0.0017	0.277	0.15665	T	0.094	0.39645	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.56	0.54540	T	-6.37	0.91058	D	0.806	0.80180	-0.3872	0.72429	T	0.334	0.70150	T	10	0.05902019	0.07030	T	0.045041	0.61789	D	0.311	0.63269	.	.	0.758814659204	0.75661	0.6597343187371477	0.65910	0.0436550850704	0.04704	0.510371923447	0.40275	T	.	.	.	-0.24317	0.14947	T	-0.122081	0.61631	T	0.100203684327369	0.12380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	3.374784	0.46651	22.3	0.99597439092514684	0.73983	0.94440	0.61173	D	AEFDBI	0.622334	0.60669	D	0.575779932672975	0.71665	5.685515	0.472138508991162	0.66149	4.914817	0.999999991619384	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	5.75	0.90390	4.533000	0.60328	5.785000	0.49830	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:1.0:0.0:0.0	19.961	0.97251	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1582.33	72	chr8	2085368	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.259;DP=866;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.13;SOR=0.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr8	2096363	2096363	G	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon18:c.G2242T:p.D748Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.132350197372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	N	0.049106	0.99997	0.53665	D	.	.	.	0.39	0.57419	T	-7.36	0.94647	D	0.95	0.95841	-0.3842	0.72521	T	0.317	0.68646	T	10	0.9013664	0.89498	D	0.13235	0.81467	D	0.541	0.80842	0.572	0.69564	0.685150128463	0.68245	0.7190752072822993	0.71850	0.0441881395344	0.04759	0.553834795952	0.46398	T	.	.	.	0.117687	0.66139	D	-0.0687279	0.65716	T	0.998741328716278	0.95037	D	0.962304	0.85835	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.63438	A	.;.	.;.	4.420170	0.68456	25.2	0.99128986918957851	0.53195	0.98942	0.88948	D	AEFDBI	0.907795	0.86226	D	0.570356031293529	0.71330	5.634515	0.487220624654096	0.67140	5.044611	0.999913157296307	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.46	4.57	0.55860	9.164000	0.93909	9.525000	0.80939	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.0:0.0:0.8609:0.1391	15.561	0.75984	929	0.16858	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1431.33	35	chr8	2096363	.	G	T	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=778;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.6;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1431	18	0	1	0
chr8	6514777	6514777	G	A	exonic	ANGPT2	.	nonsynonymous SNV	ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V	.	434	1085	3	0	0	3	0.00138058	0.0020	0.072	.	711600	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.188	.	0.0030	0.00199681	0.0048	0.0004	0.0006	0	0.0038	0.0052	0.0055	0.0121	0.0045795	708	154602	rs145141058	0.0040	0.0040	0.0036	0.0044	0.0126	0.0039	0.0039	0.0120	0.0117	0.0003	0.0006	0.0048	7.558e-05	0.0046	0.0016	0.0037	0.0034	0.0126	0.0027	0.0027	0.0025	0.0030	0.0083	0.0025	0.0024	0.0063	0.0056	0.0007	0	0.0018	0.0035	0	0.0042	0	0.0038	0.0019	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.027	0.19556	B	0.007	0.14941	B	0.000000	0.84330	D	0.049957	1	0.81001	D	-1.05	0.01069	N	-0.17	0.65563	T	1.73	0.00652	N	0.442	0.48134	-0.9230	0.45141	T	0.054	0.22921	T	10	0.012324214	0.00265	T	.	.	.	0.188	0.46444	.	.	0.665734656745	0.66292	0.6904965237364573	0.68989	0.253413253526	0.27906	0.442052185535	0.30858	T	0.093285	0.39180	T	-0.390887	0.02655	T	-0.32387	0.42148	T	0.02123464080639	0.00825	T	0.904909	0.66542	D	0.2685261	0.49924	0.12397222	0.29888	0.2685261	0.49924	0.12397222	0.29887	-4.246	0.27768	T	.	.	0.125	0.33891	B	.;.;.;.	.;.;.;.	2.264771	0.28940	17.96	0.66966079006661661	0.08214	0.97755	0.76898	D	AEFBI	0.911838	0.87165	D	-0.465373785404589	0.23222	1.245512	-0.171558742133226	0.32588	1.855526	0.999224613154397	0.38808	0.706548	0.73137	0	0.601575	0.49859	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.745000	0.74658	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0859:0.0:0.9141:0.0	10.740	0.45346	975	0.05339	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1832.83	39	chr8	6514777	.	G	A	1832.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.231;DP=811;ExcessHet=0.119;FS=7.615;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.744;SOR=0.319	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr8	6730737	6730737	G	T	exonic	AGPAT5	.	nonsynonymous SNV	AGPAT5:NM_018361:exon3:c.G316T:p.A106S	.	433	1064	24	1	0	26	0.0120706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.121132520716	0.0002	0.00119808	0.0011	0	8.664e-05	0	0	0.0004	0.0011	0.0061	0.0008797	136	154602	rs145228795	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0067	0.0065	2.988e-05	0.0002	0	0	0	0.0059	0.0002	0.0008	0.0071	0.0004	0.0004	0.0003	0.0005	0.0069	0.0003	0.0003	0.0050	0.0044	0	0	6.543e-05	0	0	0	0.0034	0.0003	0.0014	0.0069	0.0	0.91255	D	0.149	0.32568	T	0.693	0.41684	P	0.708	0.54437	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-4.41	0.97444	D	-2.88	0.60507	D	0.871	0.86833	1.052	0.98150	D	0.941	0.98061	D	10	0.059978187	0.07295	T	0.121133	0.80183	D	0.762	0.91920	.	.	0.971170073977	0.97086	0.6896152739280469	0.68901	0.0955936571595	0.10801	0.561151742935	0.47431	T	0.776726	0.94069	D	0.0573348	0.59277	T	0.312749	0.88778	D	0.127264950169297	0.15127	T	.	.	.	0.628092	0.74197	0.58132035	0.75731	0.628092	0.74198	0.58132035	0.75732	-5.872	0.45195	T	.	.	0.390	0.58993	A	.	.	4.602990	0.72918	25.9	0.95074839555494595	0.26119	0.98521	0.83668	D	AEFBHI	0.915862	0.88123	D	0.631112740843489	0.75150	6.255626	0.59867820508608	0.74844	6.206858	0.999999999999995	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.732669	0.93749	0	0.656636	0.63459	0	.	.	5.65	5.65	0.86881	9.760000	0.98127	9.665000	0.81204	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.102000	0.18378	0.0:0.0:1.0:0.0	17.231	0.86867	988	0.01987	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.011364	0.02632	1817.33	57	chr8	6730737	.	G	T	1817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.439;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	18	0	1	0
chr8	6757224	6757224	A	C	exonic	AGPAT5	.	nonsynonymous SNV	AGPAT5:NM_018361:exon8:c.A931C:p.S311R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.036332946083	.	.	8.27e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs780894264	8.209e-06	8.209e-06	6.806e-06	9.626e-06	2.236e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.892e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.188	0.21304	T	0.382	0.15890	T	0.009	0.15093	B	0.003	0.08700	B	0.000231	0.47286	N	0.283609	0.822782	0.34801	D	1.995	0.54099	M	-0.06	0.63568	T	-1.9	0.44284	N	0.105	0.08925	-1.0031	0.29021	T	0.137	0.45260	T	10	0.108783126	0.20265	T	0.036333	0.56926	D	0.099	0.28413	0.296	0.26041	0.530309751445	0.52680	0.6450399364130747	0.64438	0.0247163975186	0.02516	0.396043777466	0.24518	T	0.164288	0.50968	T	-0.170115	0.25216	T	-0.39927	0.33470	T	0.106640085577965	0.13072	T	.	.	.	0.05602613	0.10968	0.11268089	0.27190	0.05602613	0.10968	0.11268089	0.27189	-4.223	0.27083	T	.	.	0.358	0.57117	A	.	.	2.177662	0.27758	17.57	0.99019960604622015	0.50548	0.91980	0.54680	D	AEFBI	0.215091	0.34049	N	-0.353934008169668	0.27126	1.485903	-0.213166953967219	0.31062	1.75447	0.999748518053024	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	2.03	0.25714	1.824000	0.38710	3.118000	0.36388	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.4309:0.1348:0.0835:0.3509	1.566	0.02447	988	0.01987	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1506.33	34	chr8	6757224	.	A	C	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.116;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.82;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	18	0	1	0
chr8	6811976	6811976	C	A	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G1283T:p.S428I,XKR5:NM_001289973:exon8:c.G794T:p.S265I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00279553	0.0013	0.0127	0.0033	0	0	0.0001	0	0	0.0003428	53	154602	rs77060482	0.0003	0.0003	0.0003	0.0003	0.0108	0.0003	0.0003	0.0098	0.0095	0.0108	0.0004	0	0	0	0	5.561e-06	0.0007	5.048e-05	0.0028	0.0028	0.0027	0.0028	0.0097	0.0026	0.0025	0.0089	0.0086	0.0097	0	0.0010	0	0	0	0.0034	1.47e-05	0.0019	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.42232	L	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	0.0046127737	0.00096	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.378808011205656	0.37795	.	.	0.257255494595	0.04570	T	0.021	0.16130	T	-0.438685	0.01317	T	-0.392529	0.34256	T	.	.	.	0.314569	0.06202	T	0.067189485	0.14526	0.104481675	0.25095	0.067189485	0.14526	0.104481675	0.25095	-6.594	0.51007	T	.	.	0.097	0.15921	B	.	.	0.231202	0.06126	2.570	0.47806470308049154	0.03938	0.19610	0.20727	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999896990488	0.74766	0.156479	0.03450	1	0.166317	0.03975	0	0.114383	0.03170	0	0.075334	0.01956	0	0.0771818	0.17806	5.88	-6.7	0.01602	0.011000	0.13162	-2.430000	0.03764	-1.620000	0.00869	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3105:0.099:0.5905	9.985	0.41004	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3105.33	234	chr8	6811976	.	C	A	3105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=894;ExcessHet=0;FS=2.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.429;SOR=0.901	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1224	18	0	1	0
chr8	7016736	7016736	C	G	exonic	DEFA1;DEFA1B;DEFA3	.	nonsynonymous SNV	DEFA1B:NM_001042500:exon2:c.G115C:p.D39H,DEFA1:NM_004084:exon2:c.G115C:p.D39H,DEFA3:NM_005217:exon2:c.G115C:p.D39H,DEFA1B:NM_001302265:exon3:c.G136C:p.D46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	.	.	0.0195	0.0069	0	0.1662	0.0026	0.0005	0	0.0037	0.0016235	251	154602	rs371838080	0.0026	0.0038	0.0026	0.0026	0.0852	0.0025	0.0025	0.0827	0.0816	0.0002	0.0002	0	0.0852	0.0004	0.0003	0.0001	0.0029	0.0011	0.0023	0.0032	0.0020	0.0026	0.0586	0.0021	0.0020	0.0530	0.0508	0.0005	0	0.0003	0	0.0586	0.0003	0	0.0002	0.0020	0.0018	0.003	0.68238	D	0.02	0.58613	D	0.999	0.77913	D	0.988	0.77976	D	0.836118	0.06971	N	1.110310	1	0.08975	N	.	.	.	1.31	0.35405	T	-4.61	0.79060	D	0.115	0.10340	-0.9161	0.46076	T	0.167	0.50518	T	9	0.0034990013	0.00062	T	.	.	.	0.045	0.12272	.	.	0.258283824007	0.25425	0.1544821288190487	0.15369	3.01023712014	0.99228	0.403193861246	0.25514	T	0.074153	0.34869	T	-0.578085	0.00198	T	-0.633234	0.10170	T	0.0689576246939118	0.08505	T	0.518948	0.16858	T	0.257125	0.48755	0.16905582	0.38911	0.257125	0.48755	0.16905582	0.38911	-5.743	0.44074	T	.	.	0.217	0.44720	B	.	.	1.462151	0.18848	13.96	0.95926715732096446	0.28203	0.00243	0.01347	N	AEFI	0.043209	0.06801	N	-0.726180526596654	0.15288	0.7691677	-1.04529283699952	0.08805	0.4347516	1.02728524206626E-4	0.05123	0.497415	0.19182	0	0.59043	0.45803	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	2.04	-2.53	0.05959	-0.457000	0.06821	-2.438000	0.03754	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3778:0.4572:0.165	4.328	0.10491	994	0.00715	Defensin propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.46	21	chr8	7016736	.	C	G	93.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=238;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0355;MLEAC=1;MLEAF=0.026;MQ=32.55;MQRankSum=0.191;QD=7.79;ReadPosRankSum=-1.701;SOR=2.494	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	18	0	1	0
chr8	7333620	7333620	C	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1234T:p.H412Y,USP17L1:NM_001256873:exon1:c.C1234T:p.H412Y	.	436	1066	17	3	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0079	0.0035	0.0062	0	0.0054	0.0120	0.0101	0.0035	0.001191	31	26028	rs201302491	0.0058	0.0060	0.0056	0.0059	0.0307	0.0057	0.0056	0.0264	0.0247	0.0025	0.0034	0.0111	5.18e-05	0.0069	0.0307	0.0059	0.0070	0.0041	0.0049	0.0048	0.0052	0.0045	0.0063	0.0046	0.0044	0.0058	0.0056	0.0021	0	0.0035	0.0116	0	0.0044	0.0368	0.0063	0.0074	0.0034	.	.	.	0.436	0.13480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.004554063	0.00094	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.01658367185519768	0.01613	.	.	0.545712947845	0.45253	T	0.023156	0.17727	T	-0.505776	0.00530	T	-0.496121	0.22751	T	.	.	.	0.541546	0.18382	T	0.12105584	0.28473	0.1154537	0.27869	0.12105584	0.28473	0.1154537	0.27869	-4.358	0.28982	T	.	.	0.071	0.04041	B	.	.	0.457832	0.08275	5.021	0.67168932098771628	0.08274	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	1.09537333666636E-6	0.01202	0.074636	0.01641	0	0.063388	0.01293	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0443366	0.03230	.	.	.	0.893000	0.27970	-0.106000	0.11884	0.055000	0.17525	0.008000	0.17931	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2499.33	34	chr8	7333620	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.598;DP=828;ExcessHet=0;FS=8.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.62;MQRankSum=-1.465;QD=13.02;ReadPosRankSum=-1.91;SOR=0.433	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,112,1800	18	0	1	0
chr8	7337350	7337350	G	A	exonic	USP17L4	.	nonsynonymous SNV	USP17L4:NM_001256874:exon1:c.G236A:p.G79E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209188425	0.0073	0.0095	0.0063	0.0082	0.0272	0.0071	0.0070	0.0259	0.0254	0.0013	0.0052	0.0006	0.0041	0.0066	0.0053	0.0054	0.0059	0.0272	0.0004	0.0012	0.0004	0.0005	0.0040	0.0002	0.0001	0.0011	0.0006	0	0	0	0	0.0011	0.0009	0	0.0001	0	0.0040	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.645	0.94141	H	.	.	.	.	.	.	0.604	0.62188	.	.	.	.	.	.	.	0.78814137	0.78425	D	.	.	.	.	.	.	.	0.20549828249	0.20151	0.12225456181353286	0.12152	.	.	0.692608654499	0.66081	T	0.224305	0.58871	T	0.217356	0.75525	D	0.074441	0.75207	D	.	.	.	0.871013	0.57621	D	0.088158	0.20557	0.16885585	0.38877	0.088158	0.20556	0.16885585	0.38876	-10.176	0.74959	D	.	.	0.314	0.54027	B	.	.	3.414631	0.47383	22.4	0.72387234110835907	0.09956	0.86226	0.45466	D	AEFI	.	.	.	.	.	.	.	.	.	0.00331706408813929	0.10051	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.623855	0.41239	0.588	0.588	0.16630	7.339000	0.78520	3.483000	0.38662	0.465000	0.21702	1.000000	0.71638	0.967000	0.29559	0.008000	0.08271	1.0E-4:0.0:0.9999:0.0	7.164	0.24857	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.54	4	chr8	7337350	.	G	A	31.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=136;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.026;MQ=32.98;MQRankSum=-1.383;QD=7.89;ReadPosRankSum=0;SOR=2.209	GT:AD:DP:GQ:PL	0/0:5,0:5:12:0,12,180	18	0	1	0
chr8	7338417	7338417	G	A	exonic	USP17L4	.	nonsynonymous SNV	USP17L4:NM_001256874:exon1:c.G1303A:p.D435N	.	567	945	8	2	0	12	0.00630915	.	.	.	2820846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	0	.	0	.	.	3.84e-05	1	26028	rs765526325	0.0008	0.0006	0.0005	0.0010	0.0046	0.0007	0.0007	0.0041	0.0039	0	0.0003	0.0007	0	0	0.0040	0.0004	0.0007	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0014	0.0010	0	0	9.93e-05	0.0007	0	0	0	0.0002	0.0016	0.0029	.	.	.	0.398	0.15109	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.095	0.58118	M	.	.	.	.	.	.	0.11	0.09631	.	.	.	.	.	.	.	0.014757335	0.00310	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.009460976096982014	0.00909	.	.	0.677136778831	0.63858	T	0.020588	0.16185	T	-0.483277	0.00708	T	-0.468126	0.25718	T	.	.	.	0.771723	0.40231	T	0.08933321	0.20869	0.124255605	0.29951	0.08933321	0.20869	0.124255605	0.29951	-3.869	0.21839	T	.	.	0.105	0.19276	B	.	.	2.739465	0.35877	20.1	0.57824510947332841	0.05855	0.06747	0.12769	N	AEFI	.	.	.	.	.	.	.	.	.	1.44139590306061E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.488	0.488	0.16056	1.488000	0.35160	0.140000	0.15159	0.452000	0.21348	0.969000	0.34210	0.000000	0.08366	0.020000	0.11549	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	299.33	34	chr8	7338417	.	G	A	299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.848;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=30.71;MQRankSum=0.045;QD=14.25;ReadPosRankSum=0.6;SOR=0.784	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,389	18	0	1	0
chr8	7482710	7482710	C	G	exonic	DEFB106A;DEFB106B	.	nonsynonymous SNV	DEFB106B:NM_001040704:exon2:c.G92C:p.G31A,DEFB106A:NM_152251:exon2:c.G92C:p.G31A	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0252906856732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.225	0.25514	T	.	.	.	.	.	.	0.000227	0.47286	D	0.000000	1	0.08975	N	.	.	.	0.03	0.62183	T	-6.0	0.89534	D	0.715	0.71765	-0.6674	0.61946	T	0.372	0.73076	T	9	0.73233545	0.74384	D	0.025291	0.48264	D	0.205	0.49236	0.397	0.42426	0.594874987132	0.59165	0.7415104533306115	0.74097	.	.	0.58139193058	0.50282	T	.	.	.	0.0454031	0.57748	T	-0.172558	0.57210	T	0.978051602840424	0.72138	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56882	A	.	.	3.095569	0.41698	21.4	0.99285270063725062	0.58043	0.33830	0.24923	N	AEFI	0.066860	0.13115	N	0.0737501000505284	0.45239	2.783936	-0.120630025707348	0.34558	1.989295	4.03640174806796E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	1.682000	0.37245	4.760000	0.44710	0.519000	0.23678	0.778000	0.29449	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	9.647	0.39037	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1327.8	33	chr8	7482710	.	C	G	1327.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.92;DP=822;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=33;MQRankSum=0.17;QD=5.38;ReadPosRankSum=-1.514;SOR=0.653	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,851	16	0	3	0
chr8	7972841	7972841	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G413A:p.S138N	.	1295	213	2	12	0	26	0.0575221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs372606266	3.108e-05	0.0004	2.151e-05	3.998e-05	0.0003	8.26e-06	4.29e-06	7.023e-05	3.687e-05	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.01	0.25309	L	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.06623182	0.09054	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.017258727964589052	0.01680	.	.	0.532343745232	0.43365	T	0.002959	0.02360	T	-0.488973	0.00658	T	-0.590721	0.13603	T	.	.	.	0.0100561	0.00053	T	0.08905508	0.20795	0.14154468	0.33703	0.08905508	0.20795	0.14154468	0.33702	-4.58	0.31920	T	.	.	0.084	0.09481	B	.	.	0.263459	0.06420	2.886	0.62001244642472464	0.06851	0.00067	0.00479	N	AEFI	.	.	.	.	.	.	.	.	.	3.24806977993831E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0790037	0.18180	0.45	-0.9	0.10008	-2.197000	0.01325	-5.556000	0.01676	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	81.87	.	chr8	7972841	.	C	T	81.87	.	AC=2;AF=0.143;AN=14;DP=118;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=29;QD=26.99;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	6	1	0	12
chr8	7973120	7973120	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C134G:p.S45C	.	1324	165	2	31	0	64	0.162437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147564	0.0321	0.0224	0	0.3333	0.7143	0.0352	0	0.2838	0.0124837	1930	154602	rs199984969	0.0049	0.0079	0.0034	0.0063	0.0097	0.0045	0.0043	0.0086	0.0082	0.0006	0.0059	0.0088	0.0043	0.0071	0	0.0097	0.0027	0.0043	0.0002	0.0027	0.0002	0.0001	0.0002	4.188e-05	2.232e-05	4.489e-05	2.315e-05	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.0018361509	0.00025	T	.	.	.	.	.	.	.	.	.	0.03465126907105807	0.03413	.	.	0.502864360809	0.39227	T	0.110821	0.42583	T	-0.515761	0.00466	T	-0.489946	0.23397	T	.	.	.	0.480052	0.14488	T	0.07720802	0.17510	0.159	0.37030	0.07720802	0.17510	0.159	0.37029	-5.09	0.37802	T	.	.	0.086	0.10449	B	.	.	1.202716	0.15947	12.22	0.53259318864439986	0.04905	0.01998	0.06024	N	AEFI	.	.	.	.	.	.	.	.	.	1.32385288154829E-4	0.05486	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.51611	0.39628	0.45	0.45	0.15835	-0.635000	0.05568	-0.101000	0.11941	-0.704000	0.03997	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	42.42	2	chr8	7973120	.	G	C	42.42	.	AC=2;AF=0.2;AN=10;DP=86;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=40;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	14
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	40.9	.	chr8	7976907	.	G	A	40.9	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=45;QD=20.45;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	1	0	13
chr8	7976982	7976982	T	C	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A1004G:p.Y335C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310040831	8.53e-06	7.152e-05	0	1.695e-05	8.637e-05	0	0	.	.	0	0	0	0	0	0	0	0	8.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	4.56	0.99153	H	.	.	.	.	.	.	0.736	0.73645	.	.	.	.	.	.	.	0.8889628	0.88233	D	.	.	.	.	.	.	.	0.162503812791	0.15892	0.07678056790258855	0.07614	.	.	0.478556454182	0.35858	T	0.242774	0.61158	T	0.301153	0.83063	D	0.194809	0.82843	D	.	.	.	0.960604	0.85218	D	0.1726931	0.37974	0.30678537	0.56702	0.1726931	0.37974	0.30678537	0.56701	-8.104	0.61778	D	.	.	0.187	0.40344	B	.	.	3.465188	0.48318	22.6	0.63485114938700782	0.07236	0.54950	0.29742	D	AEFI	.	.	.	.	.	.	.	.	.	1.64425267711369E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	.	.	.	4.779000	0.62068	0.928000	0.22757	0.453000	0.21368	1.000000	0.71638	0.278000	0.24090	0.023000	0.12082	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	80.29	.	chr8	7976982	.	T	C	80.29	.	AC=2;AF=0.125;AN=16;DP=179;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=39.27;QD=29.93;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	7	1	0	11
chr8	8328402	8328402	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon5:c.G2380A:p.V794I,PRAG1:NM_001369759:exon5:c.G2380A:p.V794I	.	417	1102	2	1	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00890788794536	8.1e-05	0.00159744	0.0008	0.0001	0.0002	0.0001	0	0.0002	0	0.0047	0.0006921	107	154602	rs202114232	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.236e-05	0.0011	2.519e-05	0	0.0019	8.094e-05	0.0003	0.0044	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	2.409e-05	0	0	0.0006	0	0	0	7.354e-05	0	0.0058	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.000235	0.47286	D	0.000000	0.96736	0.25852	N	.	.	.	.	.	.	.	.	.	0.279	0.31590	-0.9988	0.30255	T	0.129	0.43787	T	10	0.0078550875	0.00178	T	0.008908	0.23487	T	.	.	.	.	0.0806252709748	0.07271	0.09650026235197756	0.09582	.	.	0.478297293186	0.35821	T	0.04315	0.26411	T	-0.359451	0.04161	T	-0.288974	0.45880	T	0.0584335504470382	0.06919	T	0.747125	0.36767	T	0.016736116	0.00218	0.043512616	0.05432	0.016736116	0.00218	0.043512616	0.05431	-3.88	0.22002	T	.	.	0.093	0.14155	B	.;.	.;.	2.979278	0.39734	21.0	0.97606978037481562	0.34881	0.49576	0.28464	N	AEFDBI	0.090539	0.18345	N	-0.0941172914403514	0.37649	2.193525	-0.115267178475584	0.34774	2.004124	0.999999475248285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.838000	0.38851	1.342000	0.25744	0.596000	0.33519	0.014000	0.18986	0.937000	0.28687	0.029000	0.12982	0.0:0.9166:0.0:0.0834	11.634	0.50450	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	33	chr8	8328402	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=748;ExcessHet=0;FS=9.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.38;SOR=0.237	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1255	18	0	1	0
chr8	8377394	8377394	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1015A:p.D339N,PRAG1:NM_001369759:exon3:c.G1015A:p.D339N	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0125104443522	0.0059	0.00199681	0.0055	0.0018	0.0021	0.0001	0.0089	0.0074	0.0045	0.0036	0.0048447	749	154602	rs201521501	0.0078	0.0078	0.0080	0.0077	0.0089	0.0077	0.0077	0.0087	0.0087	0.0011	0.0022	0.0097	5.057e-05	0.0087	0.0021	0.0089	0.0071	0.0028	0.0050	0.0050	0.0050	0.0050	0.0075	0.0047	0.0046	0.0070	0.0068	0.0015	0	0.0018	0.0086	0.0002	0.0103	0	0.0075	0.0038	0.0023	.	.	.	0.706	0.05602	T	0.999	0.77913	D	0.954	0.69447	D	0.001437	0.39044	N	0.165039	0.879059	0.35713	D	.	.	.	.	.	.	.	.	.	0.496	0.52918	-0.5453	0.66963	T	0.227	0.59233	T	10	0.0080578625	0.00183	T	0.01251	0.31146	T	.	.	.	.	0.152612264143	0.14878	0.20885933061810766	0.20801	.	.	0.431771397591	0.29450	T	0.025059	0.18811	T	-0.555119	0.00272	T	-0.559135	0.16459	T	0.0221336370457887	0.00924	T	0.79802	0.44234	T	0.06739918	0.14591	0.07839511	0.17554	0.06739918	0.14591	0.07839511	0.17553	-5.935	0.45733	T	.	.	0.213	0.44148	B	.;.	.;.	3.122175	0.42153	21.5	0.99867904873152369	0.94547	0.41551	0.26682	N	AEFDBCI	0.078404	0.15817	N	-0.00191428558426515	0.41769	2.504362	-0.141461961682113	0.33739	1.933098	0.999999998656664	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.34	4.34	0.51267	1.059000	0.30127	4.713000	0.44466	0.598000	0.34611	0.306000	0.25378	0.999000	0.35428	0.004000	0.06068	0.0:1.0:0.0:0.0	15.177	0.72607	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.002924	0.000000	0.000000	0.006250	0.003788	0.02632	2137.33	43	chr8	8377394	.	C	T	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1080;ExcessHet=0;FS=5.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.464;SOR=0.929	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	8377787	8377787	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C622T:p.R208C,PRAG1:NM_001369759:exon3:c.C622T:p.R208C	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00618618656676	0.0047	0.000998403	0.0035	0.0012	0.0010	0	0.0076	0.0050	0.0033	0.0005	0.0037063	573	154602	rs180898867	0.0054	0.0054	0.0056	0.0053	0.0061	0.0053	0.0053	0.0060	0.0059	0.0007	0.0015	0.0097	2.519e-05	0.0081	0.0009	0.0061	0.0052	0.0005	0.0039	0.0039	0.0037	0.0041	0.0055	0.0036	0.0035	0.0051	0.0049	0.0011	0	0.0014	0.0086	0.0002	0.0101	0	0.0055	0.0038	0.0004	.	.	.	0.029	0.54541	D	0.146	0.27821	B	0.024	0.20255	B	0.083870	0.20729	N	0.321541	0.980191	0.39641	D	.	.	.	.	.	.	.	.	.	0.343	0.39457	-0.9817	0.34608	T	0.077	0.30767	T	10	0.0064563453	0.00146	T	0.006186	0.16200	T	.	.	.	.	0.307332253619	0.30352	0.1319628656894759	0.13121	.	.	0.257686942816	0.04620	T	0.022785	0.17508	T	-0.167648	0.25590	T	-0.00662597	0.69905	D	0.016472565910182	0.00412	T	0.869413	0.57379	D	0.08104805	0.18604	0.060116924	0.11395	0.08104805	0.18603	0.060116924	0.11395	-5.508	0.41942	T	.	.	0.135	0.29394	B	.;.	.;.	4.243043	0.64342	24.7	0.99872106881281586	0.94989	0.73101	0.35762	D	AEFDBCI	0.241724	0.36329	N	-0.171502809079798	0.34324	1.957826	-0.0401645495545533	0.37920	2.226788	0.99961848429464	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	3.25	0.36363	3.243000	0.51090	5.698000	0.49367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.479000	0.28543	0.0968:0.0:0.5363:0.3669	5.315	0.15160	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	3090.33	43	chr8	8377787	.	G	A	3090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=1052;ExcessHet=0;FS=3.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.183;SOR=0.499	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	8703108	8703108	-	CAAGCC	exonic	CLDN23	.	nonframeshift insertion	CLDN23:NM_194284:exon1:c.710_711insCAAGCC:p.K244_V245insPK	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	.	0.0064	0.026	0.0037	0	0	0.0020	0.0130	0.0135	0.001191	31	26028	rs57083604	0.0030	0.0031	0.0027	0.0032	0.0260	0.0029	0.0029	0.0245	0.0239	0.0260	0.0023	0.0049	2.809e-05	0.0003	0.0064	0.0016	0.0047	0.0138	0.0091	0.0092	0.0092	0.0090	0.0272	0.0087	0.0086	0.0259	0.0254	0.0272	0	0.0039	0.0058	0.0002	0.0002	0.0034	0.0017	0.0052	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2396.79	38	chr8	8703108	.	G	GCAAGCC	2396.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.316;DP=843;ExcessHet=0.119;FS=7.293;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.03;SOR=0.816	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	17	0	2	0
chr8	8891367	8891367	G	C	exonic	MFHAS1	.	nonsynonymous SNV	MFHAS1:NM_004225:exon1:c.C1692G:p.H564Q	Malignant fibrous histiocytoma	425	1094	3	0	0	3	0.00136924	.	.	.	2345267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00184350341393	0.0004	0.000199681	0.0003	0.0001	0	0	0	0.0003	0.0011	0.0010	0.0002717	42	154602	rs141836174	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0	4.474e-05	0.0052	0	0	0.0005	8.363e-05	0.0006	0.0011	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	7.287e-05	5.087e-05	2.404e-05	0	0	0.0066	0	0	0.0034	0.0001	0.0005	0.0004	0.573	0.06125	T	0.242	0.24264	T	0.002	0.09854	B	0.001	0.04355	B	0.031917	0.25103	N	0.384296	0.994859	0.23428	N	0	0.06538	N	1.43	0.32958	T	0.26	0.04380	N	0.107	0.09207	-1.0155	0.25175	T	0.022	0.09238	T	10	0.0033741295	0.00059	T	0.001844	0.03193	T	0.012	0.01476	0.24	0.17218	0.0806252709748	0.07271	0.6338972278163989	0.63323	0.204610419644	0.22881	0.474706113338	0.35329	T	0.015944	0.13275	T	-0.66153	0.00061	T	-0.76857	0.02815	T	0.00951152476903463	0.00123	T	0.583442	0.21195	T	0.024383737	0.01265	0.032953046	0.02112	0.024383737	0.01265	0.032953046	0.02112	-5.572	0.42536	T	.	.	0.075	0.05404	B	.	.	0.250666	0.06301	2.758	0.82095377030561523	0.14016	0.25689	0.22774	N	AEFDBCI	0.087567	0.17755	N	-1.43122931238038	0.02368	0.1045097	-1.35765947440002	0.03716	0.1739239	0.999991611085102	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	5.15	-4.21	0.03552	-0.311000	0.08164	-3.354000	0.02851	-0.712000	0.03928	0.102000	0.22834	0.000000	0.08366	0.892000	0.42986	0.5469:0.1717:0.2815:0.0	8.400	0.31740	849	0.35778	Roc domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3328.83	40	chr8	8891367	.	G	C	3328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=1001;ExcessHet=0.119;FS=0.983;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.013;SOR=0.764	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	17	0	2	0
chr8	9141069	9141069	C	G	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G583C:p.D195H,PPP1R3B:NM_024607:exon2:c.G583C:p.D195H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0254201451235	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs759245095	1.163e-05	1.163e-05	9.528e-06	1.375e-05	0.0007	7.08e-06	5.79e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.116	0.36497	T	0.191	0.29411	B	0.125	0.32635	B	0.051708	0.22958	N	0.510674	0.996896	0.22865	N	0.905	0.23240	L	-0.03	0.63077	T	-1.74	0.41239	N	0.113	0.12913	-0.9029	0.47684	T	0.167	0.50615	T	10	0.22667053	0.39528	T	0.02542	0.48390	D	0.059	0.16972	0.429	0.47680	0.692045797605	0.68939	0.4122798324880351	0.41143	0.0530260791005	0.05844	0.444168806076	0.31147	T	0.108478	0.42154	T	-0.304287	0.08260	T	-0.438195	0.29012	T	0.078228090525143	0.09759	T	.	.	.	0.08058182	0.18473	0.106027536	0.25498	0.08058182	0.18473	0.106027536	0.25498	-6.581	0.50907	T	.	.	0.141	0.31023	B	.;.	.;.	3.004571	0.40157	21.1	0.9491612465968623	0.25783	0.64507	0.32429	D	AEFBCI	0.104446	0.20897	N	-0.497451366501735	0.22164	1.181555	-0.410318716433772	0.24695	1.353724	0.995157944873276	0.33979	0.645754	0.44609	0	0.633656	0.55848	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.87	2.74	0.31352	0.964000	0.28903	2.247000	0.31658	-0.173000	0.11020	0.995000	0.38783	0.983000	0.30585	0.494000	0.28882	0.1242:0.6605:0.2153:0.0	12.846	0.57214	942	0.12992	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain;CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3398.33	35	chr8	9141069	.	C	G	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=1030;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-2.585;SOR=0.657	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,107,1712	18	0	1	0
chr8	9141196	9141196	C	G	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G456C:p.Q152H,PPP1R3B:NM_024607:exon2:c.G456C:p.Q152H	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0382056871235	.	.	2.472e-05	9.63e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs762721500	1.71e-05	1.71e-05	1.633e-05	1.788e-05	0.0007	1.174e-05	9.92e-06	0.0002	0.0001	2.987e-05	0	0	0.0001	0	0.0007	2.698e-06	0	0.0001	3.942e-05	3.94e-05	5.139e-05	2.689e-05	0.0004	1.715e-05	1.129e-05	6.804e-05	2.848e-05	7.238e-05	0	0	0	0.0004	0	0	1.47e-05	0	0	0.004	0.65419	D	0.011	0.64786	D	0.86	0.47373	P	0.795	0.57940	P	0.000002	0.62929	D	0.098174	0.988911	0.40852	D	0.885	0.21608	L	-0.05	0.63403	T	-1.98	0.45769	N	0.113	0.13484	-0.5308	0.67511	T	0.286	0.65763	T	10	0.5109427	0.62093	D	0.038206	0.58084	D	0.191	0.46948	0.503	0.59615	0.835545258721	0.83398	0.5841857213486812	0.58347	0.0401716212852	0.04299	0.426544964314	0.28736	T	0.189763	0.54409	T	-0.235827	0.15885	T	-0.339857	0.40360	T	0.202674552798271	0.20562	T	.	.	.	0.30045876	0.52946	0.28646788	0.54654	0.30045876	0.52946	0.28646788	0.54653	-6.506	0.50333	T	.	.	0.266	0.50054	B	.;.	.;.	3.301191	0.45322	22.1	0.99659671249202364	0.77820	0.90074	0.50971	D	AEFBCI	0.556785	0.56668	D	0.318404135599399	0.57094	3.875	0.36403741834627	0.59357	4.112941	0.999985791684002	0.51787	0.722319	0.85440	0	0.633656	0.55848	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.87	4.99	0.65942	1.589000	0.36253	0.615000	0.20071	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.8666:0.1333:0.0	16.171	0.81632	937	0.14592	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain;CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2807.33	35	chr8	9141196	.	C	G	2807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.775;DP=970;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.6;SOR=0.93	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,107,1712	18	0	1	0
chr8	9556302	9556302	-	GGCAGT	exonic	TNKS	.	nonframeshift insertion	TNKS:NM_003747:exon1:c.363_364insGGCAGT:p.S125_N126insGS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.118e-05	0	0	0	0	2.997e-05	0	0.0002	3.84e-05	1	26028	rs775065882	1.231e-05	1.231e-05	5.445e-06	1.925e-05	0.0002	7.7e-06	6.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0002	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4520.29	33	chr8	9556302	.	C	CGGCAGT	4520.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.16;ReadPosRankSum=1.48;SOR=0.734	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1398	18	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0:109:99:.:.:0,120,1800:.	6	0	8	5
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:174,0:260:99:0|1:10609947_C_G:632,1146,5871:10609947	11	0	5	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,86:260:99:0|1:10609947_C_G:632,0,4485:10609947	6	0	10	3
chr8	10610095	10610095	-	CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG:p.G1335_G2392delinsRVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs770045968	2.54e-05	4.068e-05	2.524e-05	2.555e-05	0.0004	1.767e-05	1.501e-05	0.0002	0.0002	0.0004	6.776e-05	5.752e-05	0	0	0.0002	1.033e-05	4.797e-05	1.503e-05	0.0002	0.0003	0.0004	8.07e-05	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6024.29	290	chr8	10610095	.	C	CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	6024.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.139;DP=5341;ExcessHet=0;FS=3.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.73;MQRankSum=-3.478;QD=23.53;ReadPosRankSum=1.54;SOR=0.639	GT:AD:DP:GQ:PL	0/0:272,0:272:99:0,120,1800	18	0	1	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKETEEGLQEEGVQLEGTKVIEGLQEEGVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0	0.0005	2.239e-05	0.0002	0.0002	0.0003	0.0004	0.0005	0.0006	0.0004	0.0005	0.0010	0.0004	0.0003	0.0004	0.0003	0.0004	0	0.0008	0	0.0010	0.0001	0	0.0004	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	80542.9	290	chr8	10610127	.	T	TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	80542.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.188;DP=6208;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=59.68;MQRankSum=-0.647;QD=26.63;ReadPosRankSum=-0.83;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:272,0:272:99:.:.:0,120,1800:.	18	0	1	0
chr8	10610137	10610137	-	CACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3960_3961insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGCGGTG:p.Q1321_G2392delinsELEETKTEEGLQEEGVQLEGTKTEEGLQEEGVQLEGTKTEEGLQEEAVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.205e-06	0.0001	9.251e-06	3.122e-06	6.022e-06	2.67e-06	1.93e-06	2.17e-06	1.42e-06	0	0	0	0	2.242e-05	0	6.022e-06	1.925e-05	0	2.062e-05	0.0001	2.683e-05	1.409e-05	6.718e-05	5.48e-06	2.52e-06	4.95e-06	1.85e-06	0	0	6.718e-05	0	0	0	0	2.982e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6239.81	290	chr8	10610137	.	G	GCACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	6239.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.602;DP=5561;ExcessHet=0.119;FS=13.412;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.31;MQRankSum=0.916;QD=26;ReadPosRankSum=1.25;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:272,0:272:99:.:.:0,120,1800:.	18	0	1	0
chr8	10611249	10611249	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G2849A:p.R950H	Occult macular dystrophy, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	413767	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.387	0.715972163147	0.0002	.	0.0003	0.0001	0	0.0005	0	0.0002	0	0.0012	0.0002264	35	154602	rs201968725	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0001	0.0013	0.0012	5.974e-05	2.236e-05	0	0.0001	0	0.0005	9.263e-05	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	0.0001	0	0	0	0.0004	0	0	0.0001	0.0005	0.0017	0.441	0.09236	T	0.167	0.30729	T	.	.	.	.	.	.	0.947360	0.07633	N	1.039280	1	0.08975	N	-0.22	0.03977	N	-1.02	0.76300	T	1.42	0.00815	N	0.646	0.65758	-0.8512	0.51885	T	0.266	0.63749	T	10	0.23439452	0.40478	T	0.715972	0.97696	D	0.387	0.70358	.	.	0.15556083564	0.15200	0.2538678084800543	0.25300	.	.	0.245718508959	0.03330	T	0.079735	0.36199	T	-0.28525	0.10119	T	-0.212597	0.53447	T	0.0168827265305444	0.00440	T	0.464054	0.13535	T	0.02187258	0.00815	0.029692015	0.01336	0.02187258	0.00814	0.029692015	0.01336	-4.108	0.25408	T	0.0911984329143445	0.05761	0.081	0.08368	B	.	.	0.204964	0.05893	2.333	0.29934526604811967	0.01612	0.00599	0.02675	N	AEFDBI	0.025219	0.01691	N	-1.05860557936357	0.07419	0.3446135	-1.0732974274852	0.08228	0.4036583	1.02379788800706E-4	0.05123	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.73	1.24	0.20416	0.025000	0.13469	-2.388000	0.03816	-0.195000	0.09104	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.4919:0.0:0.5081	6.973	0.23842	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	55	chr8	10611249	.	C	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=933;ExcessHet=0;FS=2.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.69;SOR=0.62	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr8	10611284	10611284	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G2814T:p.E938D	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	898689	Occult_macular_dystrophy	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.231	0.222351358908	.	.	8.522e-05	0	0	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs772171734	7.736e-05	7.73e-05	6.812e-05	8.669e-05	0.0073	6.538e-05	6.14e-05	0.0055	0.0049	0.0001	8.944e-05	0	0	0	0.0073	4.856e-05	4.968e-05	6.956e-05	3.938e-05	3.936e-05	6.423e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0002	0.017	0.51248	D	0.033	0.53072	D	.	.	.	.	.	.	0.003319	0.35125	N	0.000000	0.936757	0.26909	N	1.975	0.53506	M	-1.16	0.78082	T	-1.16	0.29727	N	0.271	0.30687	-0.4752	0.69541	T	0.421	0.76650	T	10	0.14040044	0.26687	T	0.222351	0.87850	D	0.231	0.53208	0.167	0.07186	0.282179105231	0.27821	0.28368259385035727	0.28281	.	.	0.31776034832	0.13081	T	0.10515	0.41536	T	-0.244471	0.14785	T	-0.386288	0.34987	T	0.0804203897714615	0.10041	T	0.357964	0.08163	T	0.06720304	0.14529	0.07703944	0.17122	0.06720304	0.14529	0.07703944	0.17122	-4.931	0.36082	T	0.4182070226565116	0.50739	0.138	0.30184	B	.	.	1.864044	0.23680	16.11	0.99666847752475818	0.78330	0.38934	0.26100	N	AEFDBI	0.087104	0.17662	N	-0.221788105858038	0.32240	1.816146	-0.386165012066516	0.25409	1.397141	0.0122612217173279	0.12302	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.58	3.7	0.41607	0.595000	0.23729	-0.320000	0.09971	-0.233000	0.07663	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.9048:0.0:0.0952	9.793	0.39885	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.012228	0.017544	0.000000	0.008621	0.003049	0.000000	0.02632	1173.33	55	chr8	10611284	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.615;DP=970;ExcessHet=0;FS=2.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.342;SOR=0.551	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr8	10611841	10611841	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T2257C:p.S753P	Occult macular dystrophy, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00743253798928	.	0.000599042	0.0005	0.0001	8.652e-05	0	0	0	0.0011	0.0035	0.0004075	63	154602	rs542094183	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0035	2.987e-05	0	0	0	0	0.0012	8.993e-07	9.935e-05	0.0039	0.0001	0.0001	8.994e-05	0.0001	0.0037	7.572e-05	6.278e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.286	0.15201	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	3.5	0.05014	T	-1.47	0.35991	N	0.107	0.09207	-0.9693	0.37345	T	0.012	0.04416	T	9	0.0060776174	0.00137	T	0.007433	0.19712	T	0.124	0.34239	0.167	0.07186	0.101711395817	0.09552	0.07414307052700345	0.07351	.	.	0.273312985897	0.06576	T	0.078055	0.35802	T	-0.665728	0.00058	T	-0.731155	0.04276	T	0.0767435897121003	0.09565	T	0.30037	0.05618	T	0.18010922	0.39116	0.09174957	0.21587	0.18010922	0.39115	0.09174957	0.21586	-3.989	0.23639	T	0.1320578362291822	0.14045	0.101	0.17360	B	.	.	0.677365	0.10460	7.177	0.94129970251491779	0.24312	0.02226	0.06472	N	AEFDBI	0.061789	0.11836	N	-0.693117151607074	0.16216	0.8242495	-0.867113635471161	0.12877	0.6649246	1.05183627587406E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.33	-1.44	0.08391	0.187000	0.16806	0.950000	0.22916	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.426:0.0:0.3676:0.2064	3.259	0.06439	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1491.33	87	chr8	10611841	.	A	G	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.583;DP=1436;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=1.25;SOR=0.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800:.	18	0	1	0
chr8	10612156	10612156	T	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A1942C:p.M648L	Occult macular dystrophy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.0026840470341	.	.	8.344e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs766967081	3.422e-06	3.42e-06	0	6.879e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	1.0	0.01155	T	.	.	.	.	.	.	0.731680	0.06374	N	1.204010	1	0.08975	N	0.345	0.11182	N	3.92	0.03462	T	-0.12	0.08809	N	0.065	0.03726	-0.9393	0.42727	T	0.004	0.01330	T	10	0.041377723	0.02788	T	0.002684	0.05492	T	0.004	0.00165	0.308	0.27967	0.0138822411134	0.00435	0.06560363828527155	0.06499	.	.	0.230854600668	0.02032	T	0.01904	0.15242	T	-0.487998	0.00667	T	-0.841898	0.01070	T	0.0728848797806049	0.09050	T	0.217578	0.02739	T	0.10288775	0.24315	0.0757315	0.16704	0.10288775	0.24315	0.0757315	0.16703	-0.675	0.00702	T	0.06539307896137322	0.02154	0.147	0.32445	B	.	.	-1.425795	0.00342	0.006	0.34820001437652404	0.02151	0.00526	0.02443	N	AEFDGBI	0.024000	0.01418	N	-1.9788402258027	0.00235	0.01006667	-2.06001601891084	0.00227	0.01002772	0.997076302974995	0.35252	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.56	-9.11	0.00607	-4.365000	0.00281	-4.896000	0.01937	-0.336000	0.05739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.097:0.1499:0.3034:0.4498	3.340	0.06699	791	0.46100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	87	chr8	10612156	.	T	G	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=1440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.61;SOR=0.714	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr8	10612808	10612808	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G1290T:p.Q430H	Occult macular dystrophy, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	898720	Occult_macular_dystrophy|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0226723834076	.	0.000399361	0.0003	0	8.723e-05	0	0	0.0003	0	0.0005	0.0002135	33	154602	rs142459130	0.0002	0.0002	0.0002	0.0002	0.0120	0.0002	0.0002	0.0097	0.0089	0.0001	0.0002	0	0	0	0.0120	0.0002	0.0004	0.0003	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0006	0	0	0	0.0136	0.0003	0.0005	0.0008	0.005	0.63226	D	0.161	0.31326	T	.	.	.	.	.	.	0.834507	0.09081	U	0.883524	1	0.08975	N	0.975	0.24501	L	3.63	0.04353	T	-1.72	0.40850	N	0.195	0.21449	-0.9259	0.44730	T	0.011	0.04088	T	10	0.0377883	0.02155	T	0.022672	0.45580	T	0.032	0.07718	0.382	0.39970	0.0482279557977	0.04254	0.0942514248820504	0.09357	.	.	0.259485006332	0.04830	T	0.087179	0.37886	T	-0.548264	0.00299	T	-0.71294	0.05145	T	0.0274895822209088	0.01615	T	0.338366	0.07261	T	0.09714659	0.22895	0.067587204	0.14001	0.09714659	0.22895	0.067587204	0.14000	-3.762	0.20238	T	0.3638244518274665	0.46002	0.312	0.53906	B	.	.	1.160826	0.15498	11.89	0.99463057426068302	0.65892	0.42416	0.26873	N	AEFDBI	0.078621	0.15866	N	-0.614516283172622	0.18508	0.9614276	-0.654798527602974	0.18096	0.9651751	2.95303270747148E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.98	3.06	0.34374	1.044000	0.29939	-0.187000	0.11075	0.599000	0.40250	0.012000	0.18695	0.000000	0.08366	0.076000	0.17014	0.0:0.7368:0.1673:0.096	7.305	0.25616	790	0.46189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012614	0.010309	0.012228	0.020468	0.000000	0.017544	0.003049	0.007576	0.02632	1663.33	36	chr8	10612808	.	C	A	1663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.058;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	10612839	10612839	-	CT	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.1258_1259insAG:p.V420Efs*71	Occult macular dystrophy, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	537520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.514e-06	0	0	0	0	1.554e-05	0	0	6.5e-06	1	154602	rs764382843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1127.29	36	chr8	10612839	.	A	ACT	1127.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=836;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.843;SOR=0.859	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	10613181	10613181	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G917C:p.G306A	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	898726	Occult_macular_dystrophy|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.0174599301498	.	.	8.332e-05	0	0	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs761314438	8.075e-05	8.072e-05	7.49e-05	8.666e-05	0.0073	6.87e-05	6.423e-05	0.0055	0.0049	0.0001	8.944e-05	0	0	0	0.0073	5.216e-05	6.624e-05	6.956e-05	3.938e-05	3.936e-05	6.422e-05	1.342e-05	0.0002	1.714e-05	1.128e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0002	0.383	0.11085	T	0.343	0.17857	T	.	.	.	.	.	.	0.745446	0.06453	N	1.193030	1	0.08975	N	1.04	0.26193	L	3.84	0.03675	T	-0.41	0.14000	N	0.054	0.02559	-0.9030	0.47673	T	0.008	0.02884	T	10	0.044074178	0.03324	T	0.01746	0.39167	T	0.034	0.08419	.	.	0.0297737177859	0.01360	0.06647769961369218	0.06585	.	.	0.277226030827	0.07108	T	0.039795	0.25311	T	-0.506214	0.00528	T	-0.759412	0.03134	T	0.0113760326885017	0.00169	T	0.437256	0.12012	T	0.0351898	0.04095	0.038276505	0.03663	0.0351898	0.04095	0.038276505	0.03662	-3.373	0.14695	T	0.3483011196964254	0.44568	0.116	0.23535	B	.	.	0.685508	0.10542	7.251	0.64740332263329248	0.07577	0.14957	0.18672	N	AEFDBI	0.174664	0.30180	N	-0.895543383694791	0.10947	0.5257646	-0.890923514249118	0.12309	0.6323827	2.115866703409E-4	0.05997	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.35	1.54	0.22290	0.840000	0.27253	1.320000	0.25596	0.549000	0.26987	0.011000	0.18532	0.001000	0.17328	0.062000	0.16114	0.0:0.5084:0.1749:0.3166	4.761	0.12481	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	1784.33	36	chr8	10613181	.	C	G	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=909;ExcessHet=0;FS=4.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.01;SOR=0.431	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S	Occult macular dystrophy, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	1219.33	40	chr8	10622865	.	G	A	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=749;ExcessHet=0;FS=8.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.625;SOR=1.328	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1188	18	0	1	0
chr8	10623162	10623162	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C40T:p.R14C	Occult macular dystrophy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	898744	Occult_macular_dystrophy|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0905667406411	.	.	8.428e-05	0	0	0.0002	0	3.281e-05	0	0.0005	5.82e-05	9	154602	rs765708710	8.847e-05	9.303e-05	9.104e-05	8.586e-05	0.0004	7.557e-05	7.097e-05	0.0003	0.0003	3.016e-05	0.0002	0	0.0001	0	0	7.197e-05	1.686e-05	0.0004	7.234e-05	7.223e-05	5.143e-05	9.423e-05	0.0006	3.974e-05	3.13e-05	0.0002	9.014e-05	2.416e-05	0	0	0	0.0004	0	0	7.351e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999481	0.21117	N	2.14	0.59869	M	3.48	0.05130	T	-3.26	0.65397	D	0.442	0.48042	-1.0965	0.04542	T	0.040	0.17404	T	9	0.18187496	0.33439	T	0.090567	0.75543	D	0.107	0.30369	0.217	0.13788	0.540198931682	0.53672	0.20282355506801197	0.20199	.	.	0.493453919888	0.37918	T	0.385758	0.74708	T	-0.330421	0.06080	T	-0.392393	0.34271	T	0.260790705680847	0.23349	T	0.766023	0.39401	T	0.26337692	0.49402	0.18941575	0.42287	0.26337692	0.49402	0.18941575	0.42286	-5.939	0.45766	T	0.5542887075169105	0.62257	0.200	0.42332	B	.	.	4.631257	0.73641	26.0	0.99915165394301486	0.98379	0.76006	0.37246	D	AEFBI	0.343751	0.43947	N	0.419980678722513	0.62520	4.469379	0.355553317372067	0.58842	4.057528	0.995470869751805	0.34147	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.395000	0.73157	2.492000	0.32988	0.674000	0.70861	1.000000	0.71638	0.997000	0.33255	0.901000	0.43729	0.1027:0.0:0.8973:0.0	10.078	0.41546	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1589.33	40	chr8	10623162	.	G	A	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=803;ExcessHet=0;FS=5.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.936;SOR=1.103	GT:AD:DP:GQ:PL	0/1:85,62:147:99:1603,0,2103	18	0	1	0
chr8	10674782	10674782	G	A	exonic	C8orf74	.	stopgain	C8orf74:NM_001040032:exon2:c.G185A:p.W62X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.0001	0	0	0	0	2.145e-05	0	0.0009	9.7e-05	15	154602	rs754122752	3.713e-05	3.899e-05	1.64e-05	5.812e-05	0.0006	2.908e-05	2.605e-05	0.0004	0.0004	0	0	0	0	0	0	4.51e-06	3.326e-05	0.0006	2.629e-05	2.627e-05	2.571e-05	2.691e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000032	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.061	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356478	0.86982	D	0.61701	0.97470	D	0.63640905297707	0.37885	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.667720	0.97860	38	0.99664207279889261	0.78138	0.97714	0.76605	D	AEFDBI	0.089620	0.18165	N	0.763281230055913	0.83768	8.104446	0.60694550804587	0.75442	6.311464	0.999997262132438	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.06	5.06	0.67838	3.605000	0.53839	11.674000	0.94138	0.582000	0.30178	0.989000	0.36753	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	15.905	0.79209	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1647.33	40	chr8	10674782	.	G	A	1647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=858;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.647;SOR=0.886	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1108	18	0	1	0
chr8	11322779	11322779	G	C	exonic	MTMR9	.	nonsynonymous SNV	MTMR9:NM_015458:exon10:c.G1641C:p.E547D	.	.	.	.	.	.	.	.	.	.	.	722800	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.216	.	0.0038	0.00299521	0.0011	0.0115	0.0005	0	0	4.515e-05	0	0	0.0009767	151	154602	rs74800008	0.0004	0.0004	0.0005	0.0003	0.0148	0.0004	0.0004	0.0137	0.0133	0.0148	0.0006	0	0	0	0.0005	2.698e-06	0.0009	4.639e-05	0.0036	0.0037	0.0038	0.0035	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0018	0	0	0	0	0	0.0009	0	0.175	0.24090	T	0.33	0.19304	T	0.001	0.07471	B	0.001	0.04355	B	0.433709	0.12716	U	0.573080	0.577425	0.33356	D	1.78	0.46185	L	-3.53	0.95077	D	-0.17	0.09627	N	0.176	0.32037	-0.1844	0.78069	T	0.527	0.82423	D	10	0.005777389	0.00129	T	.	.	.	0.216	0.50959	0.096	0.01287	0.816479649498	0.81475	0.3624301750025814	0.36157	0.00698940445936	0.00615	0.380066901445	0.22266	T	0.041485	0.25873	T	-0.401151	0.02276	T	-0.337326	0.40646	T	0.00711602318390244	0.00081	T	0.535646	0.17968	T	0.034004044	0.03731	0.04131892	0.04667	0.034004044	0.03731	0.04131892	0.04667	-3.33	0.14642	T	.	.	0.068	0.03887	B	.;.	.;.	0.984422	0.13618	10.15	0.98619618626589767	0.43758	0.92402	0.55629	D	AEFBI	0.273958	0.38925	N	-0.722023992068372	0.15404	0.7759862	-0.56582650246931	0.20386	1.098135	0.976962556743203	0.29775	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	2.75	0.31439	0.497000	0.22222	.	.	-0.153000	0.12021	1.000000	0.71638	0.995000	0.32472	0.279000	0.23992	0.142:0.1262:0.7319:0.0	8.460	0.32082	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	800.33	35	chr8	11322779	.	G	C	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.357;DP=677;ExcessHet=0;FS=8.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.75;SOR=0.16	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	11331743	11331743	C	G	exonic	SLC35G5	.	nonsynonymous SNV	SLC35G5:NM_054028:exon1:c.C637G:p.L213V	.	437	1071	13	1	0	15	0.0069541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.0071885	0.0012	0.0111	0.0003	0	0.0009	0.0002	0	0.0002	0.0013001	201	154602	rs144998869	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	3e-05	0.0003	0	0	0.0014	0.0005	0.0001	0.0001	0.0002	0.0002	0.0006	0.0003	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0007	0	0	0.0003	0	0.0001	0.0005	0	0.295	0.14743	T	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.002848	0.35836	N	0.000000	1	0.08975	N	0.895	0.22405	L	1.61	0.28391	T	-0.43	0.14390	N	0.099	0.08088	-1.0105	0.26760	T	0.109	0.39392	T	8	0.005474597	0.00121	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.3322923487058381	0.33142	0.402940989994	0.41237	0.479038119316	0.35924	T	0.010679	0.09617	T	-0.32346	0.06618	T	-0.702405	0.05695	T	0.0159262346888108	0.00376	T	.	.	.	0.10198477	0.24094	0.09978295	0.23836	0.10198477	0.24094	0.09978295	0.23835	-5.153	0.38460	T	.	.	0.138	0.30184	B	.	.	2.483401	0.32028	18.92	0.71202136996773568	0.09549	0.00447	0.02174	N	AEFDBI	0.030890	0.03194	N	-0.5292923063996	0.21138	1.119565	-0.830154295982772	0.13766	0.7158785	0.384010616121496	0.19986	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.645665	0.59343	0	.	.	.	.	.	-0.190000	0.09612	.	.	0.088000	0.17592	0.941000	0.32681	0.997000	0.33255	0.118000	0.19084	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001101	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1511.33	96	chr8	11331743	.	C	G	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.369;DP=1608;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.42;MQRankSum=1.05;QD=13.99;ReadPosRankSum=-1.601;SOR=0.941	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr8	11758326	11758326	C	A	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon6:c.C562A:p.P188T,GATA4:NM_001374274:exon6:c.C436A:p.P146T,GATA4:NM_001308093:exon7:c.C1183A:p.P395T,GATA4:NM_001308094:exon7:c.C562A:p.P188T,GATA4:NM_002052:exon7:c.C1180A:p.P394T	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	396274	not_provided|46,XY_sex_reversal_3|Atrioventricular_septal_defect_4|not_specified	MedGen:C3661900|MONDO:MONDO:0013066,MedGen:C3489793,OMIM:612965|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.366	.	.	0.00638978	0.0025	0	0.0003	0.0003	0	0	0.0011	0.0181	0.002238	346	154602	rs200319078	0.0011	0.0011	0.0006	0.0015	0.0169	0.0010	0.0010	0.0162	0.0159	5.974e-05	2.236e-05	0	7.557e-05	0	0.0014	7.194e-06	0.0015	0.0169	0.0007	0.0007	0.0004	0.0010	0.0208	0.0006	0.0005	0.0175	0.0162	0.0001	0	0	0	0	0	0	0	0	0.0208	0.13	0.26740	T	0.486	0.16425	T	0.025	0.19245	B	0.031	0.21939	B	0.421236	0.12868	N	0.732373	0.91172	0.27492	N	1.01	0.25309	L	-5.28	0.98949	D	-0.69	0.20791	N	0.051	0.19190	0.407	0.89196	D	0.803	0.93340	D	10	0.0037125945	0.00069	T	.	.	.	0.366	0.68582	0.185	0.09388	0.810781027711	0.80900	0.35724699173817803	0.35638	0.186432944156	0.20951	0.324314534664	0.14075	T	0.269614	0.79696	T	-0.218379	0.18214	T	-0.0721823	0.65471	T	0.0135299362352083	0.00248	T	.	.	.	0.062273927	0.12988	0.066750295	0.13717	0.06545455	0.13988	0.07762411	0.17308	-3.721	0.19628	T	.	.	0.060	0.00995	B	.;.;.;.	.;.;.;.	1.883491	0.23925	16.20	0.85154422955099829	0.15718	0.85099	0.44204	D	AEFDGBI	0.683393	0.64609	D	-0.423283366710638	0.24655	1.332809	-0.240285887587514	0.30107	1.692384	0.996026884083241	0.34476	0.549168	0.22868	0	0.627178	0.54094	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	5.61	2.67	0.30756	0.108000	0.15232	.	.	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.866000	0.41154	0.0:0.4041:0.2081:0.3878	4.623	0.11853	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	465.33	34	chr8	11758326	.	C	A	465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=676;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.792;SOR=0.934	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	18	0	1	0
chr8	11761832	11761832	G	T	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G419T:p.C140F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.000794454176548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	82.19	.	chr8	11761832	.	G	T	82.19	.	AC=2;AF=0.111;AN=18;DP=15;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.167;MQ=60;QD=27.8;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	8	1	0	10
chr8	11785992	11785992	A	G	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.A535G:p.R179G,NEIL2:NM_001349441:exon4:c.A535G:p.R179G,NEIL2:NM_001135746:exon5:c.A718G:p.R240G,NEIL2:NM_001135748:exon5:c.A370G:p.R124G,NEIL2:NM_001349439:exon5:c.A535G:p.R179G,NEIL2:NM_001349440:exon5:c.A535G:p.R179G,NEIL2:NM_145043:exon5:c.A718G:p.R240G,NEIL2:NM_001349442:exon6:c.A718G:p.R240G	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0171201275	.	.	8.263e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs759717925	1.368e-05	1.368e-05	2.723e-06	2.475e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	6.295e-06	0.0001	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.102	0.39334	T	0.471	0.20357	T	0.801	0.45051	P	0.522	0.48285	P	0.002946	0.35672	N	0.273781	0.593053	0.31004	N	3.03	0.86425	M	2.37	0.15964	T	-4.36	0.83899	D	0.457	0.49692	-0.9519	0.40643	T	0.079	0.31526	T	10	0.42889994	0.57359	T	0.01712	0.38687	T	0.202	0.48754	.	.	0.495970961353	0.49232	0.5429397104386617	0.54218	0.00782571836696	0.00705	0.445672750473	0.31353	T	0.121645	0.44475	T	-0.0955031	0.37167	T	-0.278106	0.46998	T	0.797300636768341	0.46170	D	0.989121	0.96387	D	0.69050455	0.77539	0.63089263	0.78467	0.69050455	0.77540	0.63089263	0.78468	-10.65	0.77704	D	.	.	0.206	0.51497	B	.;.;.;.;.	.;.;.;.;.	3.567191	0.50221	22.9	0.99711151104856066	0.81353	0.77049	0.37842	D	AEFBI	0.295546	0.40563	N	0.143653775991315	0.48512	3.062546	0.0608248767954214	0.42598	2.579328	0.859724893526196	0.25202	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	1.44	0.21647	0.552000	0.23083	.	.	0.756000	0.94297	0.997000	0.40164	0.998000	0.33993	0.396000	0.26692	0.3778:0.4982:0.0:0.124	7.524	0.26811	958	0.09170	DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;.;.;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3616.33	35	chr8	11785992	.	A	G	3616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.448;DP=1257;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.507;SOR=0.635	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1357	18	0	1	0
chr8	11853447	11853447	T	G	exonic	CTSB	.	nonsynonymous SNV	CTSB:NM_001384714:exon2:c.A8C:p.Q3P,CTSB:NM_001908:exon2:c.A8C:p.Q3P,CTSB:NM_001384727:exon3:c.A8C:p.Q3P,CTSB:NM_001384728:exon3:c.A8C:p.Q3P,CTSB:NM_147781:exon3:c.A8C:p.Q3P,CTSB:NM_147782:exon3:c.A8C:p.Q3P,CTSB:NM_147783:exon3:c.A8C:p.Q3P,CTSB:NM_001384723:exon4:c.A8C:p.Q3P,CTSB:NM_001384724:exon4:c.A8C:p.Q3P,CTSB:NM_001384725:exon4:c.A8C:p.Q3P,CTSB:NM_001384726:exon4:c.A8C:p.Q3P,CTSB:NM_147780:exon4:c.A8C:p.Q3P	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0131656072586	.	.	0.0002	0	8.673e-05	0	0	4.539e-05	0.0034	0.0008	0.0001294	20	154602	rs762550595	0.0001	0.0001	8.581e-05	0.0001	0.0014	9.339e-05	8.822e-05	0.0007	0.0005	0	2.238e-05	0	0	1.886e-05	0.0014	7.466e-05	8.283e-05	0.0007	7.972e-05	7.881e-05	6.483e-05	9.538e-05	0.0004	4.543e-05	3.549e-05	7.542e-05	4.257e-05	2.446e-05	0	0	0	0	0	0.0034	0.0001	0	0.0004	0.216	0.25255	T	0.218	0.31730	T	0.002	0.09854	B	0.002	0.06944	B	0.532843	0.11620	N	0.819730	1	0.08975	N	0.295	0.10161	N	-0.45	0.69896	T	-0.92	0.87300	N	0.171	0.18512	-1.0382	0.17863	T	0.119	0.41648	T	10	0.034485936	0.01658	T	0.013166	0.32362	T	0.202	0.48754	.	.	0.163833314356	0.15978	0.5635157428951171	0.56278	.	.	0.237605825067	0.02579	T	0.176374	0.52630	T	-0.328752	0.06206	T	-0.313829	0.43246	T	0.0259593370905877	0.01401	T	0.435556	0.14930	T	0.23750979	0.46616	0.15057208	0.35505	0.23750979	0.46616	0.15057208	0.35504	-3.319	0.13984	T	.	.	0.069	0.13032	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.437458	0.00334	0.006	0.80444679583065515	0.13206	0.09821	0.15489	N	AEFDGBHCI	0.485274	0.52493	N	-1.50339007117835	0.01828	0.08012023	-1.52937091512227	0.02121	0.09707712	1.0	0.98316	0.722319	0.85440	0	0.643519	0.57511	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	4.98	-6.09	0.01963	-1.841000	0.01776	.	.	-2.047000	0.00420	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.563:0.1008:0.3362	11.873	0.51809	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	556.33	50	chr8	11853447	.	T	G	556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=748;ExcessHet=0;FS=2.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-1.739;SOR=0.343	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	18	0	1	0
chr8	11984538	11984538	T	C	exonic	DEFB135	.	nonsynonymous SNV	DEFB135:NM_001033017:exon2:c.T182C:p.I61T	.	.	.	.	.	.	.	.	.	.	.	2250413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00217313436215	.	.	2.499e-05	0	0	0	0	4.508e-05	0	0	1.94e-05	3	154602	rs778893958	1.549e-05	1.71e-05	1.113e-05	1.997e-05	1.942e-05	1.014e-05	8.66e-06	1.248e-05	1.059e-05	0	0	0	0	0	0	1.942e-05	1.715e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.834	0.02854	T	0.705	0.05622	T	0.0	0.02946	B	0.0	0.01387	B	0.001347	0.00773	N	5.123630	1	0.08975	N	.	.	.	2.91	0.10008	T	1.98	0.00416	N	0.136	0.13341	-1.0118	0.26353	T	0.011	0.04088	T	9	0.043723732	0.03252	T	0.002173	0.04071	T	0.057	0.16321	.	.	0.0611884634855	0.05136	0.19568975985601889	0.19485	0.00696279670166	0.00615	0.34618806839	0.17359	T	0.001191	0.00692	T	-0.514759	0.00472	T	-0.846741	0.01002	T	0.0494087183354607	0.05396	T	.	.	.	0.025701026	0.01537	0.039707493	0.04124	0.025701026	0.01537	0.039707493	0.04124	-1.635	0.02065	T	.	.	0.063	0.01534	B	.	.	-1.558956	0.00261	0.004	0.16010108685047517	0.00413	0.00126	0.00785	N	AEFBI	0.012020	0.00121	N	-1.64253529794663	0.01067	0.04630002	-1.73792690719391	0.00979	0.04388205	0.041135055206762	0.14471	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	-3.32	0.04663	-2.650000	0.00930	.	.	-0.909000	0.02273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3417:0.2075:0.17:0.2808	0.084	0.00031	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	2427.83	37	chr8	11984538	.	T	C	2427.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=833;ExcessHet=0.119;FS=3.705;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.17;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	17	0	2	0
chr8	12137437	12137437	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1324A:p.E442K	.	519	993	10	0	0	10	0.00501002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00289120537799	.	.	0.0002	0.0005	0	0.0014	0	0.0001	0	0	3.84e-05	1	26028	rs760152249	0.0001	0.0002	0.0001	9.548e-05	0.0005	9.804e-05	9.261e-05	0.0003	0.0002	0.0005	9.515e-05	0	8.79e-05	0	0.0002	0.0001	0.0003	0	0.0002	0.0003	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0	0	0.0001	0	0	0.046	0.40573	D	0.315	0.19421	T	0.955	0.54515	P	0.877	0.62241	P	0.386864	0.13311	U	0.626565	1	0.08975	N	2.345	0.67358	M	0.67	0.52187	T	-1.74	0.41239	N	0.102	0.08506	-1.0134	0.25848	T	0.148	0.47469	T	10	0.06317812	0.08191	T	0.002891	0.06104	T	0.064	0.18567	.	.	0.658206160193	0.65534	0.09251944187760013	0.09183	0.926036099854	0.71641	0.556424319744	0.46762	T	0.005274	0.04719	T	-0.38663	0.02827	T	-0.500995	0.22244	T	0.178566470742226	0.19144	T	0.822818	0.48291	T	0.0676637	0.14674	0.09246446	0.21791	0.0676637	0.14673	0.09246446	0.21790	-3.185	0.12298	T	.	.	0.095	0.14706	B	.	.	2.451234	0.31561	18.78	0.99401488802999227	0.62841	0.02867	0.07637	N	AEFBI	0.036320	0.04819	N	-0.293805503822292	0.29386	1.629191	-0.534058386912178	0.21230	1.147535	2.44315400430417E-6	0.01202	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	1.107000	0.30724	-0.021000	0.12925	0.272000	0.18543	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.0:1.0:0.0:0.0	4.913	0.13187	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	5070.11	38	chr8	12137437	.	C	T	5070.11	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.753;DP=1176;ExcessHet=0;FS=3.292;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=59.86;MQRankSum=0.573;QD=18.57;ReadPosRankSum=-0.543;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	14	0	1	4
chr8	12137772	12137772	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G989T:p.C330F	.	530	982	9	1	0	11	0.00556962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00122202859647	.	0.000399361	0.0012	0	0.0005	0	0.0005	0.0002	0.0035	0.0063	0.0002305	6	26028	rs201342238	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0049	0.0048	0	0.0002	0	0	7.84e-05	0.0020	6.66e-05	0.0006	0.0054	0.0001	0.0001	8.332e-05	0.0002	0.0036	8.233e-05	6.822e-05	0.0022	0.0017	0	0	7.274e-05	0	0	0.0002	0	1.547e-05	0	0.0036	0.0	0.91255	D	0.001	0.83351	D	0.142	0.27621	B	0.216	0.37572	B	0.001113	0.40219	N	0.160618	0.91258	0.36451	D	2.255	0.64187	M	3.47	0.05188	T	-9.72	0.98616	D	0.454	0.49146	-1.0625	0.11142	T	0.022	0.09284	T	10	0.013972223	0.00295	T	0.001222	0.01608	T	0.178	0.44724	.	.	0.370424759081	0.36655	0.02830831682622384	0.02780	1.4404443071	0.85963	0.526339828968	0.42519	T	0.006646	0.06077	T	-0.400585	0.02295	T	-0.51563	0.20739	T	0.218766700757528	0.21402	T	0.975802	0.91539	D	0.82398933	0.85491	0.5145042	0.71947	0.82398933	0.85492	0.5145042	0.71948	-12.374	0.86625	D	.	.	0.224	0.45520	B	.	.	2.181801	0.27809	17.59	0.98032682235053026	0.37728	0.51360	0.28877	D	AEFBI	0.366179	0.45409	N	-0.546848914256089	0.20582	1.086094	-0.691592343951948	0.17169	0.9117934	1.08596093194533E-5	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.342	0.12008	3.976000	0.56574	-0.079000	0.12201	0.272000	0.18543	1.000000	0.71638	0.000000	0.08366	0.020000	0.11549	0.0:0.6862:0.3138:0.0	6.344	0.20546	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000624	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004673	0.03125	3098.65	155	chr8	12137772	.	C	A	3098.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.872;DP=4189;ExcessHet=0;FS=0;InbreedingCoeff=-0.036;MLEAC=1;MLEAF=0.031;MQ=49.38;MQRankSum=1.12;QD=5.57;ReadPosRankSum=0.168;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	15	0	1	3
chr8	12138105	12138105	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C656T:p.P219L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00120761684133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.487e-07	2.148e-06	1.933e-06	0	1.436e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.436e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.003	0.76473	D	0.984	0.60733	D	0.958	0.70027	D	0.002351	0.36727	N	0.171823	0.996794	0.43422	D	3.615	0.93875	H	3.31	0.06291	T	-8.72	0.97670	D	0.193	0.21188	-1.1233	0.02133	T	0.060	0.25018	T	10	0.37267017	0.53596	T	0.001208	0.01583	T	0.098	0.28162	0.64	0.77687	0.551344072312	0.54791	0.015571955266281818	0.01513	1.18424234959	0.80093	0.524103760719	0.42204	T	0.013141	0.11424	T	-0.159743	0.26799	T	-0.467236	0.25814	T	0.890124308303025	0.54091	D	0.849215	0.53152	T	0.23138314	0.45909	0.16349506	0.37924	0.23138314	0.45909	0.16349506	0.37923	-8.779	0.66263	D	.	.	0.196	0.41828	B	.	.	3.106865	0.41893	21.4	0.995865552141185	0.73336	0.46695	0.27817	N	AEFBI	0.132015	0.25116	N	0.270772110659292	0.54674	3.632372	0.0115215566659009	0.40250	2.399051	1.48830095680839E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	0.935	0.18608	1.853000	0.38998	3.923000	0.40484	0.306000	0.19039	0.093000	0.22645	0.914000	0.28189	0.043000	0.14563	0.0:0.0:1.0:0.0	5.345	0.15309	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1887.21	60	chr8	12138105	.	G	A	1887.21	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.29;DP=1864;ExcessHet=0;FS=0;InbreedingCoeff=0.7723;MLEAC=2;MLEAF=0.056;MQ=30.64;MQRankSum=-0.533;QD=31.45;ReadPosRankSum=-1.242;SOR=0.466	GT:AD:DP:GQ:PL	./.:.:.:.:.	17	1	0	1
chr8	12138384	12138384	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G377A:p.C126Y	.	579	939	4	0	0	4	0.0021254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00133937677492	0.0028	0.000599042	0.0024	0.0003	0.0006	0	0.0023	0.0031	0.0047	0.0027	0.0003458	9	26028	rs200055041	0.0029	0.0035	0.0029	0.0029	0.0033	0.0028	0.0028	0.0032	0.0032	0.0004	0.0010	0	0	0.0016	0	0.0033	0.0022	0.0027	0.0018	0.0021	0.0015	0.0020	0.0030	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0006	0	0	0.0014	0	0.0029	0.0015	0.0030	0.0	0.91255	D	0.001	0.83351	D	0.899	0.49514	P	0.914	0.64984	D	0.000000	0.84330	D	0.000000	0.956561	0.37980	D	2.77	0.80896	M	1.58	0.29085	T	-9.35	0.98346	D	0.294	0.33250	-0.8412	0.52567	T	0.154	0.48360	T	10	0.014803618	0.00311	T	0.001339	0.01910	T	0.163	0.42028	.	.	0.496036935653	0.49239	0.07919436859435168	0.07854	1.54876453167	0.87867	0.662284135818	0.61736	T	0.012946	0.11287	T	-0.473871	0.00804	T	-0.457763	0.26844	T	0.156386138625615	0.17600	T	0.962204	0.85735	D	0.8390349	0.86540	0.59535444	0.76508	0.8390349	0.86541	0.59535444	0.76509	-8.09	0.61682	D	.	.	0.597	0.68739	P	.	.	2.844318	0.37536	20.5	0.87330475525047502	0.17150	0.37639	0.25807	N	AEFBI	0.116983	0.22937	N	-0.0877945378619465	0.37927	2.213726	-0.375639455725426	0.25725	1.416495	9.03828231417938E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	2.424000	0.44370	4.251000	0.42758	-0.746000	0.03629	0.723000	0.28851	0.735000	0.26442	0.005000	0.06747	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000645	0.000000	0.001437	0.000000	0.000000	0.000000	0.000000	0.009524	0.02941	4333.24	58	chr8	12138384	.	C	T	4333.24	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.441;DP=2904;ExcessHet=0;FS=1.129;InbreedingCoeff=-0.0366;MLEAC=1;MLEAF=0.029;MQ=44.53;MQRankSum=-4.511;QD=8.75;ReadPosRankSum=0.417;SOR=0.664	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	16	0	1	2
chr8	12138525	12138525	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G236A:p.G79E	.	591	913	16	2	0	20	0.0108342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00171972351428	.	.	7.753e-05	0.0001	0	0.0001	0	6.827e-05	0	0.0001	4.53e-05	7	154602	rs201032518	0.0018	0.0063	0.0014	0.0023	0.0128	0.0018	0.0017	0.0121	0.0118	0.0004	0.0018	0.0003	0.0042	0.0027	0.0010	0.0010	0.0017	0.0128	0.0009	0.0036	0.0007	0.0011	0.0069	0.0008	0.0007	0.0048	0.0041	0.0001	0	0.0011	0	0.0019	0.0014	0	0.0009	0	0.0069	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.000000	0.998806	0.45475	D	3.69	0.94526	H	3.44	0.05375	T	-6.93	0.93404	D	0.605	0.62273	-1.0473	0.15159	T	0.072	0.29387	T	10	0.46278515	0.59387	T	0.00172	0.02882	T	0.144	0.38394	.	.	0.643127189037	0.64018	0.09958374844969137	0.09889	1.3443435746	0.83939	0.582196474075	0.50394	T	0.111641	0.42729	T	-0.0818442	0.39416	T	-0.35534	0.38590	T	0.790776968002319	0.45741	D	0.860314	0.55333	D	0.7436556	0.80502	0.470007	0.69265	0.7436556	0.80503	0.470007	0.69265	-10.699	0.77981	D	.	.	0.614	0.69452	P	.	.	3.342615	0.46062	22.2	0.99199783208081638	0.55231	0.64391	0.32392	D	AEFBI	0.371542	0.45751	N	0.204690972063235	0.51425	3.32394	-0.135026311921286	0.33990	1.950213	0.00691229304308845	0.11340	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	5.734000	0.68224	2.400000	0.32587	0.281000	0.18624	0.998000	0.41325	0.013000	0.20296	0.201000	0.21925	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004289	0.000000	0.002882	0.000000	0.000000	0.000000	0.007407	0.009009	0.03125	44.58	58	chr8	12138525	.	C	T	44.58	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.249;DP=2610;ExcessHet=0;FS=16.694;InbreedingCoeff=-0.0323;MLEAC=1;MLEAF=0.031;MQ=53.71;MQRankSum=-7.374;QD=0.24;ReadPosRankSum=-2.31;SOR=2.296	GT:AD:DP:GQ:PL	./.:.:.:.:.	15	0	1	3
chr8	12138694	12138694	A	G	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.T67C:p.S23P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.000776767210144	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201725196	0.0008	0.0029	0.0006	0.0009	0.0082	0.0007	0.0007	0.0073	0.0070	0.0082	0.0006	0.0001	0.0038	0.0001	0	0.0002	0.0006	0.0055	0.0016	0.0085	0.0018	0.0014	0.0053	0.0014	0.0013	0.0046	0.0044	0.0053	0	0.0007	0	0.0015	0.0003	0	0.0001	0.0005	0.0026	0.306	0.14207	T	0.229	0.25210	T	0.997	0.70673	D	0.791	0.57754	P	0.160509	0.03035	U	2.632720	1	0.08975	N	0.805	0.20218	L	2.39	0.15724	T	1.05	0.01314	N	0.07	0.04307	-1.0467	0.15332	T	0.059	0.24686	T	8	0.12606704	0.23963	T	7.77E-4	0.00588	T	0.082	0.23913	0.327	0.31034	0.27855597813	0.27464	0.06263905129911394	0.06203	0.602877694266	0.55285	0.539203643799	0.44333	T	0.004935	0.04354	T	-0.349127	0.04782	T	-0.739273	0.03921	T	0.146081611514091	0.16787	T	0.443356	0.12326	T	0.13776411	0.31886	0.14523719	0.34453	0.13776411	0.31886	0.14523719	0.34452	-3.726	0.19703	T	.	.	0.073	0.04558	B	.	.	1.164950	0.15540	11.93	0.95834577561320178	0.27947	0.01709	0.05426	N	AEFBI	0.047177	0.07915	N	-0.676210484786053	0.16700	0.8531941	-0.960292720682348	0.10685	0.539733	2.04560337295708E-6	0.01202	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.36	-0.721	0.10625	-0.182000	0.09720	-2.284000	0.03952	0.346000	0.19847	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	106.4	58	chr8	12138694	.	A	G	106.4	.	AC=2;AF=0.063;AN=32;DP=2284;ExcessHet=0;FS=0;InbreedingCoeff=0.9674;MLEAC=1;MLEAF=0.031;MQ=29.06;QD=26.6;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	15	1	0	3
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1370.11	35	chr8	12186441	.	C	*	1370.11	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=959;ExcessHet=1.3;FS=3.327;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=35.23;MQRankSum=-1.417;QD=3;ReadPosRankSum=-1.339;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,982:.	18	0	1	0
chr8	12186528	12186528	G	C	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C464G:p.P155R	.	453	1049	20	0	0	20	0.00944287	.	.	.	2343792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.00444197983801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279049664	0.0006	0.0012	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0001	0.0008	0.0009	0	0.0003	0.0037	0.0002	0.0005	0.0052	0.0007	0.0009	0.0006	0.0008	0.0054	0.0006	0.0006	0.0038	0.0033	0.0002	0	0.0007	0.0017	0	0.0002	0.0069	0.0007	0.0024	0.0054	0.035	0.43708	D	0.183	0.29153	T	0.027	0.31731	B	0.167	0.35540	B	.	.	.	.	1	0.81001	D	-1.59	0.00435	N	2.35	0.16217	T	-0.84	0.23156	N	0.208	0.24260	-0.8770	0.49997	T	0.012	0.04747	T	9	0.087920815	0.15091	T	0.004442	0.10875	T	0.132	0.35948	0.742	0.87401	0.043077524339	0.03247	0.5275503728603979	0.52679	1.89546967938	0.92762	.	.	.	0.001653	0.01084	T	-0.28737	0.09902	T	-0.650564	0.08915	T	0.041530152190818	0.03969	T	0.821218	0.48050	T	0.06668883	0.14374	0.055078726	0.09593	0.06668883	0.14373	0.055078726	0.09593	9.484	0.00000	T	.	.	0.083	0.09433	B	.;.	.;.	1.170399	0.15603	11.97	0.73488612586498137	0.10346	0.05576	0.11476	N	AEFI	0.038886	0.05569	N	-2.070749039906	0.00148	0.006353905	-2.07365716296805	0.00213	0.009366211	2.03422830820862E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	-2.34	0.06321	0.202000	0.17094	0.590000	0.19811	-0.769000	0.03460	0.987000	0.36337	0.986000	0.30841	0.006000	0.07323	0.0:0.3889:0.1868:0.4243	4.304	0.10381	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	35	chr8	12186528	.	G	C	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=1056;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.03;MQRankSum=-2.582;QD=6.34;ReadPosRankSum=0.193;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,982:.	18	0	1	0
chr8	12186529	12186529	G	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C463T:p.P155S	.	452	1050	20	0	0	20	0.00943396	.	.	.	2343791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00290629980765	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316189728	0.0005	0.0012	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0045	0.0001	0.0008	0.0009	0	0.0003	0.0032	0.0002	0.0005	0.0051	0.0007	0.0010	0.0006	0.0008	0.0054	0.0006	0.0006	0.0038	0.0033	0.0002	0	0.0007	0.0017	0	0.0002	0.0069	0.0007	0.0024	0.0054	0.103	0.30097	T	0.357	0.17115	T	0.002	0.23866	B	0.04	0.25116	B	.	.	.	.	1	0.81001	D	-0.895	0.01383	N	2.33	0.16492	T	0.34	0.03889	N	0.208	0.23253	-0.9570	0.39735	T	0.016	0.06569	T	9	0.03251031	0.01404	T	0.002906	0.06133	T	0.059	0.16972	.	.	0.043077524339	0.03247	0.42598081369902846	0.42515	1.79259073175	0.91533	.	.	.	7.73E-4	0.00369	T	-0.273844	0.11331	T	-0.631134	0.10328	T	0.0170963427727431	0.00455	T	0.853215	0.53849	D	0.035074204	0.04059	0.054233648	0.09290	0.035074204	0.04059	0.054233648	0.09290	7.185	0.00000	T	.	.	0.083	0.09239	B	.;.	.;.	1.559377	0.19974	14.53	0.629204580295738	0.07087	0.04338	0.09900	N	AEFI	0.036339	0.04825	N	-1.68399236448125	0.00900	0.03895298	-1.6529986259137	0.01360	0.0614345	1.432567853437E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	-0.134	0.12823	1.896000	0.39421	5.121000	0.47587	-0.595000	0.04637	0.999000	0.42656	1.000000	0.68203	0.005000	0.06747	0.8207:0.0:0.1793:0.0	6.432	0.21004	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	35	chr8	12186529	.	G	A	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=1053;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.86;MQRankSum=-2.582;QD=6.34;ReadPosRankSum=0.045;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,982:.	18	0	1	0
chr8	12186577	12186577	G	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C415T:p.L139F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	.	.	.	0.0051	0	0.0032	0	0	0	0	0.0132	3.84e-05	1	26028	rs749586537	0.0007	0.0008	0.0004	0.0009	0.0106	0.0006	0.0006	0.0100	0.0098	6.037e-05	0.0001	0	7.657e-05	0	0.0002	1.175e-05	0.0009	0.0106	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	2.422e-05	0	0	0	0	0	0	1.477e-05	0	0.0120	0.008	0.58626	D	0.012	0.63918	D	0.998	0.90584	D	0.992	0.88582	D	.	.	.	.	0.997041	0.81001	D	3.305	0.90531	M	2.79	0.11189	T	-2.75	0.58407	D	0.448	0.48596	-1.0409	0.17041	T	0.083	0.32585	T	9	0.014749914	0.00310	T	.	.	.	0.200	0.48430	0.644	0.78117	0.043077524339	0.03247	0.6070799559756553	0.60638	3.21115196292	0.99499	.	.	.	0.042247	0.26120	T	-0.12958	0.31564	T	-0.423909	0.30628	T	0.170433887695265	0.18609	T	0.927207	0.73169	D	0.54835236	0.69863	0.47457963	0.69549	0.54835236	0.69864	0.47457963	0.69550	-11.125	0.80338	D	.	.	0.209	0.43680	B	.;.	.;.	3.625088	0.51325	23.1	0.99634348622529212	0.76264	0.46111	0.27687	N	AEFI	0.210150	0.33606	N	0.101011246462483	0.46509	2.890256	-0.154179879025036	0.33248	1.899886	1.43176758521953E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	1.17	0.19998	1.537000	0.35689	3.436000	0.38348	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:1.0:0.0	8.265	0.30971	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	125.33	35	chr8	12186577	.	G	A	125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.966;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.13;MQRankSum=0.005;QD=1.24;ReadPosRankSum=-1.763;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,982	18	0	1	0
chr8	13021792	13021792	-	G	exonic	TRMT9B	.	frameshift insertion	TRMT9B:NM_001099677:exon2:c.736dupG:p.A246Gfs*2,TRMT9B:NM_020844:exon5:c.1114dupG:p.A372Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	99	chr8	13021792	.	T	TG	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=2004;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.038;SOR=0.963	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr8	13090280	13090280	G	C	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348084:exon10:c.C2513G:p.S838W,DLC1:NM_001164271:exon11:c.C2513G:p.S838W,DLC1:NM_001316668:exon11:c.C2837G:p.S946W,DLC1:NM_001348083:exon11:c.C2513G:p.S838W,DLC1:NM_006094:exon11:c.C2735G:p.S912W,DLC1:NM_001348082:exon14:c.C2513G:p.S838W,DLC1:NM_001348081:exon15:c.C4046G:p.S1349W,DLC1:NM_182643:exon15:c.C4046G:p.S1349W	Colorectal cancer, somatic	433	1088	1	0	0	1	0.000459348	.	.	.	2802393	DLC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.550	0.0686527020213	.	.	6.611e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs139251311	3.489e-05	3.489e-05	2.178e-05	4.813e-05	0.0004	2.697e-05	2.438e-05	0.0003	0.0003	0	0	3.826e-05	0	0	0.0003	8.093e-06	1.656e-05	0.0004	3.286e-05	3.284e-05	3.855e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	0.155	0.57480	T	0.106	0.46182	T	0.053	0.62325	B	0.175	0.55225	B	0.000013	0.62929	D	0.119358	1	0.81001	D	2.135	0.59519	M	-1.31	0.79666	T	-3.03	0.64363	D	0.686	0.69213	0.139	0.84870	D	0.557	0.83817	D	10	0.66447204	0.70345	D	0.068653	0.70511	D	0.550	0.81369	0.561	0.68093	0.682298336957	0.67959	0.38780763010604824	0.38695	0.198447039188	0.22225	0.563268959522	0.47729	T	0.485605	0.81244	T	-0.0813158	0.39501	T	-0.0118501	0.69564	D	0.282473704596317	0.24275	T	0.975102	0.91204	D	0.23496509	0.46325	0.21401855	0.45935	0.23496509	0.46325	0.21401855	0.45934	-7.967	0.61356	D	.	.	0.352	0.56690	A	.;.;.;.	.;.;.;.	3.463903	0.48288	22.6	0.99014960699700016	0.50441	0.93104	0.57338	D	AEFBCI	0.829030	0.74802	D	0.266538862000065	0.54462	3.611638	0.270303387168795	0.53812	3.548521	0.999999885193891	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.06	5.06	0.67838	4.871000	0.62737	5.928000	0.51272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.354000	0.25750	0.0:0.0:1.0:0.0	19.000	0.92809	944	0.12746	START domain|START domain|START domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	118	chr8	13090280	.	G	C	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.903;DP=762;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.95;SOR=0.785	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr8	13567218	13567218	A	G	exonic	C8orf48	.	nonsynonymous SNV	C8orf48:NM_001007090:exon1:c.A227G:p.Y76C	.	428	1080	13	1	0	15	0.00689655	.	.	.	2820921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00505993214669	0.0042	0.00159744	0.0042	0.0020	0.0058	0	0.0025	0.0067	0.0085	0.0025	0.0016882	261	154602	rs147132901	0.0054	0.0051	0.0054	0.0053	0.0119	0.0053	0.0052	0.0097	0.0088	0.0010	0.0063	0.0035	2.798e-05	0.0014	0.0119	0.0061	0.0049	0.0019	0.0047	0.0047	0.0046	0.0048	0.0101	0.0044	0.0043	0.0088	0.0083	0.0011	0.0307	0.0101	0.0037	0.0002	0.0013	0.0204	0.0063	0.0085	0.0023	0.174	0.22486	T	0.089	0.40426	T	0.282	0.32132	B	0.247	0.38902	B	0.052852	0.02042	N	2.450980	1	0.08975	N	0.205	0.09354	N	1.51	0.30937	T	-0.42	0.14193	N	0.033	0.00882	-1.0404	0.17192	T	0.036	0.15553	T	10	0.0036412477	0.00067	T	0.00506	0.12815	T	0.023	0.04649	.	.	0.165133752707	0.16062	0.037164055958543454	0.03663	.	.	.	.	.	0.014735	0.12488	T	-0.648802	0.00074	T	-0.70059	0.05794	T	0.0149542671943559	0.00319	T	0.367963	0.08605	T	0.035774972	0.04276	0.042581525	0.05103	0.035774972	0.04276	0.042581525	0.05103	-4.106	0.25379	T	.	.	0.084	0.09481	B	.	.	-0.250698	0.02840	0.398	0.91257104982696946	0.20515	0.03618	0.08854	N	AEBCI	0.050517	0.08837	N	-1.24465179671057	0.04370	0.1971146	-1.39003569481461	0.03357	0.1564405	0.999987609368479	0.51787	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.665054	0.64577	0	.	.	4.94	-6.44	0.01749	-0.995000	0.03823	-0.546000	0.08555	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3284:0.3193:0.1258:0.2264	1.068	0.01515	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008728	0.015957	0.000000	0.008929	0.000000	0.083333	0.000000	0.012821	0.02632	1261.33	100	chr8	13567218	.	A	G	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.76;DP=1826;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.012;SOR=0.445	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S,MICU3:NM_181723:exon1:c.C331T:p.P111S	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007919	0.000000	0.010638	0.004505	0.000000	0.000000	0.017442	0.009434	0.02632	182.33	35	chr8	17027610	.	C	T	182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.712;SOR=0.693	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,661	18	0	1	0
chr8	17274953	17274953	A	G	exonic	VPS37A	.	nonsynonymous SNV	VPS37A:NM_001145152:exon4:c.A562G:p.I188V,VPS37A:NM_001363167:exon5:c.A637G:p.I213V,VPS37A:NM_001363169:exon5:c.A367G:p.I123V,VPS37A:NM_001363171:exon5:c.A367G:p.I123V,VPS37A:NM_001363173:exon5:c.A637G:p.I213V,VPS37A:NM_152415:exon5:c.A637G:p.I213V,VPS37A:NM_001363168:exon6:c.A367G:p.I123V,VPS37A:NM_001363170:exon6:c.A367G:p.I123V,VPS37A:NM_001363172:exon6:c.A367G:p.I123V	Spastic paraplegia 53, autosomal recessive, Autosomal recessive	10	1511	1	0	0	1	0.000330797	.	.	.	268394	not_specified|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_53|not_provided	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013962,MedGen:C3539494,OMIM:614898,Orphanet:319199|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	.	0.0007	0.0081869	0.0032	0.0013	0.0002	0.0392	0.0003	0.0003	0.0022	0.0002	0.0029495	456	154602	rs17687375	0.0009	0.0009	0.0009	0.0009	0.0252	0.0009	0.0009	0.0239	0.0234	0.0010	0.0005	3.83e-05	0.0252	0.0003	0.0005	0.0001	0.0025	0.0003	0.0018	0.0018	0.0016	0.0019	0.0340	0.0016	0.0015	0.0299	0.0283	0.0013	0	0.0014	0	0.0340	0.0002	0	5.88e-05	0.0009	0.0010	0.519	0.07283	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.819304	0.09191	N	0.914092	1	0.08975	N	0	0.06538	N	0.63	0.53088	T	0.19	0.04947	N	0.03	0.00717	-1.0455	0.15680	T	0.013	0.04890	T	10	0.002766043	0.00043	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.19082180934151513	0.19000	0.0134498855525	0.01295	0.246975421906	0.03455	T	0.009476	0.08629	T	-0.695816	0.00039	T	-0.742281	0.03795	T	0.000358159722222222	0.00003	T	0.440256	0.12156	T	0.013372217	0.00057	0.021962762	0.00232	0.018309508	0.00352	0.018661903	0.00062	-2.746	0.07821	T	0.08108224529502618	0.04153	0.060	0.00904	B	.;.	.;.	-1.028945	0.00731	0.022	0.24021839632739195	0.01043	0.01330	0.04586	N	AEFBI	0.034243	0.04207	N	-1.34365014308661	0.03191	0.1421386	-1.3320594822987	0.04022	0.1888422	0.00203105125044215	0.09096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	-1.12	0.09306	-0.255000	0.08789	-0.019000	0.12951	-1.811000	0.00612	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.4539:0.142:0.2752:0.1289	1.928	0.03119	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1102.33	40	chr8	17274953	.	A	G	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.77;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	18	0	1	0
chr8	17548830	17548830	T	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon4:c.T685C:p.S229P,SLC7A2:NM_001164771:exon4:c.T805C:p.S269P,SLC7A2:NM_003046:exon4:c.T805C:p.S269P,SLC7A2:NM_001370337:exon5:c.T685C:p.S229P,SLC7A2:NM_001370338:exon5:c.T685C:p.S229P	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0674514413212	0.0006	0.000998403	0.0007	0.0002	0.0010	0	0	0.0009	0.0033	0.0004	0.0007697	119	154602	rs142593316	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0008	0.0008	0.0001	0.0007	0	0	9.368e-05	0.0012	0.0009	0.0006	0.0006	0.0007	0.0007	0.0008	0.0007	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0.0242	0.0003	0	0	0	0	0.0010	0.0015	0.0004	0.065	0.36310	T	0.131	0.40426	T	0.86	0.47373	P	0.723	0.54990	P	0.000038	0.55875	D	0.163697	0.95446	0.39038	D	0.175	0.09039	N	-2.25	0.88533	D	-2.53	0.54864	D	0.375	0.48963	0.146	0.84994	D	0.525	0.82317	D	10	0.00931859	0.00210	T	0.067451	0.70170	D	0.470	0.76421	.	.	0.927616338111	0.92687	0.9336598454785273	0.93344	0.0530379128989	0.05844	0.474536120892	0.35306	T	0.69194	0.91051	D	-0.204202	0.20200	T	-0.106632	0.62879	T	0.0391192576249898	0.03532	T	0.69713	0.30670	T	0.3886082	0.59932	0.44458023	0.67635	0.3886082	0.59933	0.44458023	0.67635	-7.834	0.60050	D	.	.	0.17	0.42229	B	.;.;.;.;.;.	.;.;.;.;.;.	4.674805	0.74743	26.2	0.99402349456728767	0.62887	0.96542	0.69661	D	AEFBI	0.670812	0.63777	D	0.101832542738835	0.46547	2.893472	0.205755902600695	0.50167	3.211579	0.992764994151556	0.32960	0.732398	0.92422	0	0.573888	0.26702	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.68	4.68	0.58319	2.017000	0.40600	7.886000	0.72778	0.665000	0.62972	0.972000	0.34453	1.000000	0.68203	0.998000	0.85391	0.2055:0.0:0.0:0.7945	10.604	0.44572	845	0.36510	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1758.33	42	chr8	17548830	.	T	C	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=1066;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-1.188;SOR=0.972	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr8	17621134	17621134	A	G	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon3:c.A437G:p.Q146R,PDGFRL:NM_006207:exon4:c.A437G:p.Q146R	Colorectal cancer, somatic;Hepatocellular cancer, somatic	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00793139708464	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0.0011	6.065e-05	0.0001682	26	154602	rs144384825	0.0001	0.0001	0.0001	0.0001	0.0036	9.955e-05	9.362e-05	0.0024	0.0021	5.986e-05	0.0004	0	0	1.873e-05	0.0036	8.106e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	0.0006	9.144e-05	7.7e-05	0.0002	8.989e-05	2.406e-05	0	0.0003	0.0003	0	0	0	0.0001	0.0009	0.0006	0.175	0.22400	T	0.261	0.22962	T	0.002	0.09854	B	0.006	0.12133	B	0.000109	0.50451	N	0.176762	0.721877	0.33626	D	1.045	0.26769	L	2.1	0.19990	T	-0.6	0.17834	N	0.332	0.37301	-1.0317	0.19905	T	0.039	0.16978	T	10	0.055345893	0.06036	T	0.007931	0.21033	T	0.091	0.26358	.	.	0.204665344411	0.20097	0.6603559432328214	0.65972	0.00574059871857	0.00500	0.366294801235	0.20299	T	0.013881	0.11924	T	-0.355145	0.04412	T	-0.446197	0.28117	T	0.0275267201565048	0.01619	T	0.676632	0.28519	T	0.08687169	0.20208	0.10541613	0.25339	0.08687169	0.20207	0.10541613	0.25338	-3.386	0.14869	T	.	.	0.087	0.11220	B	.;.	.;.	2.166471	0.27606	17.52	0.97198842502423133	0.32802	0.89620	0.50201	D	AEFBI	0.487387	0.52615	N	-0.314856963858563	0.28583	1.577775	-0.164372454612515	0.32858	1.873666	0.999976846193493	0.50053	0.643511	0.44296	0	0.588015	0.36545	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.27	4.08	0.46880	3.313000	0.51645	3.973000	0.40841	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.7997:0.0:0.0715:0.1288	7.303	0.25608	773	0.48803	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1202.33	34	chr8	17621134	.	A	G	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.966;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.122;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	18	0	1	0
chr8	17642622	17642622	C	T	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon6:c.C949T:p.P317S,PDGFRL:NM_006207:exon7:c.C949T:p.P317S	Colorectal cancer, somatic;Hepatocellular cancer, somatic	16	1497	9	0	0	9	0.002997	.	.	.	2393417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.325	0.0329888827118	0.0005	0.000399361	0.0005	0	0.0003	0.0006	0	0.0007	0	0.0003	0.0004592	71	154602	rs148981308	0.0005	0.0005	0.0005	0.0005	0.0059	0.0005	0.0005	0.0044	0.0039	0.0003	0.0001	0.0056	0.0047	0	0.0059	0.0003	0.0009	0.0003	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0006	0.0005	2.405e-05	0.0011	0.0001	0.0043	0.0014	0	0.0068	0.0005	0.0009	0.0008	0.02	0.49613	D	0.017	0.60337	D	0.997	0.70673	D	0.95	0.68788	D	0.000000	0.84330	D	0.047272	1	0.81001	D	3.36	0.91202	M	1.34	0.34841	T	-3.91	0.73042	D	0.621	0.63628	-0.6989	0.60491	T	0.241	0.60893	T	10	0.033563912	0.01537	T	0.032989	0.54662	D	0.325	0.64725	.	.	0.725982359231	0.72355	0.48677562052074724	0.48597	0.027915624442	0.02864	0.571606397629	0.48905	T	0.171621	0.51981	T	-0.12362	0.32532	T	-0.0534374	0.66786	D	0.367444068193436	0.27698	T	0.925307	0.72522	D	0.41434515	0.61713	0.29918927	0.55952	0.39909652	0.60670	0.26023832	0.51784	-5.106	0.37971	T	0.5563478207965277	0.62446	0.152	0.33823	B	.;.	.;.	3.981638	0.58534	24.0	0.99914951410568698	0.98309	0.97141	0.72930	D	AEFBCI	0.805459	0.73004	D	0.712906823132211	0.80479	7.30317	0.651301581592242	0.78709	6.930757	0.999999999988605	0.74766	0.631515	0.41029	0	0.588015	0.36545	0	0.659464	0.59346	0	0.741806	0.99463	0	.	.	5.16	5.16	0.70563	7.041000	0.76279	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.767000	0.36405	0.0:1.0:0.0:0.0	19.041	0.92980	731	0.54177	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	760.33	34	chr8	17642622	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.518;DP=742;ExcessHet=0;FS=11.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-2.427;SOR=0.105	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A,MTUS1:NM_001001925:exon2:c.A1771G:p.T591A,MTUS1:NM_001363057:exon2:c.A1771G:p.T591A,MTUS1:NM_001363059:exon2:c.A1771G:p.T591A,MTUS1:NM_001363060:exon2:c.A1771G:p.T591A,MTUS1:NM_001363061:exon2:c.A1771G:p.T591A,MTUS1:NM_001363062:exon2:c.A1771G:p.T591A,MTUS1:NM_001363058:exon3:c.A1771G:p.T591A	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1846.33	33	chr8	17754037	.	T	C	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=806;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.068;SOR=0.543	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr8	17755227	17755227	C	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.G581T:p.G194V,MTUS1:NM_001001925:exon2:c.G581T:p.G194V,MTUS1:NM_001363057:exon2:c.G581T:p.G194V,MTUS1:NM_001363059:exon2:c.G581T:p.G194V,MTUS1:NM_001363060:exon2:c.G581T:p.G194V,MTUS1:NM_001363061:exon2:c.G581T:p.G194V,MTUS1:NM_001363062:exon2:c.G581T:p.G194V,MTUS1:NM_001363058:exon3:c.G581T:p.G194V	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0002	0.00239617	0.0014	0.0004	0	0	0.0002	5.994e-05	0.0022	0.0097	0.001229	190	154602	rs202123481	0.0007	0.0007	0.0004	0.0010	0.0103	0.0007	0.0007	0.0097	0.0095	0.0001	4.472e-05	0	0	0	0.0005	8.543e-05	0.0010	0.0103	0.0005	0.0005	0.0003	0.0006	0.0126	0.0004	0.0003	0.0101	0.0092	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0126	0.328	0.13566	T	0.346	0.17696	T	0.037	0.20876	B	0.008	0.13708	B	0.066027	0.02195	N	2.165150	0.999999	0.08975	N	1.245	0.31408	L	3.18	0.07478	T	-1.68	0.40082	N	0.19	0.20793	-1.0369	0.18264	T	0.021	0.09101	T	9	0.003976643	0.00077	T	.	.	.	0.027	0.05988	.	.	0.238096912614	0.23440	0.06973377808633463	0.06911	.	.	0.186883121729	0.00175	T	0.019507	0.15531	T	-0.634148	0.00090	T	-0.675724	0.07247	T	0.0101351351177203	0.00137	T	0.693931	0.30359	T	0.08876896	0.20718	0.061836734	0.12003	0.086786516	0.20184	0.06519515	0.13178	-3.421	0.15340	T	.	.	0.105	0.25396	B	.;.;.	.;.;.	0.083338	0.04887	1.473	0.61143346239495011	0.06636	0.24391	0.22379	N	ALL	0.129637	0.24788	N	-1.05553781007281	0.07479	0.3475857	-1.09821572006125	0.07735	0.3774523	0.999999997656701	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	4.05	0.148	0.14137	-0.363000	0.07645	-0.293000	0.10176	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4961:0.1859:0.3179	3.732	0.08023	559	0.71409	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2670.33	190	chr8	17755227	.	C	A	2670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=2902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.574;SOR=0.679	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	18	0	1	0
chr8	17962101	17962101	C	T	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.C2390T:p.T797I,PCM1:NM_001352652:exon15:c.C2390T:p.T797I,PCM1:NM_001315507:exon16:c.C2390T:p.T797I,PCM1:NM_001315508:exon16:c.C2393T:p.T798I,PCM1:NM_001352634:exon16:c.C2390T:p.T797I,PCM1:NM_001352639:exon16:c.C2390T:p.T797I,PCM1:NM_001352640:exon16:c.C2393T:p.T798I,PCM1:NM_001352641:exon16:c.C2390T:p.T797I,PCM1:NM_001352644:exon16:c.C2390T:p.T797I,PCM1:NM_001352646:exon16:c.C2390T:p.T797I,PCM1:NM_001352649:exon16:c.C2393T:p.T798I,PCM1:NM_001352651:exon16:c.C2507T:p.T836I,PCM1:NM_001352654:exon16:c.C2390T:p.T797I,PCM1:NM_001352658:exon16:c.C2390T:p.T797I,PCM1:NM_006197:exon16:c.C2390T:p.T797I,PCM1:NM_001352632:exon17:c.C2507T:p.T836I,PCM1:NM_001352636:exon17:c.C2510T:p.T837I,PCM1:NM_001352637:exon17:c.C2507T:p.T836I,PCM1:NM_001352643:exon17:c.C2507T:p.T836I,PCM1:NM_001352655:exon17:c.C2390T:p.T797I,PCM1:NM_001352635:exon18:c.C2393T:p.T798I,PCM1:NM_001352638:exon18:c.C2507T:p.T836I,PCM1:NM_001352642:exon18:c.C2390T:p.T797I,PCM1:NM_001352645:exon18:c.C2390T:p.T797I,PCM1:NM_001352648:exon18:c.C2393T:p.T798I,PCM1:NM_001352653:exon18:c.C2390T:p.T797I,PCM1:NM_001352656:exon18:c.C2390T:p.T797I,PCM1:NM_001352657:exon18:c.C2390T:p.T797I,PCM1:NM_001352633:exon19:c.C2507T:p.T836I,PCM1:NM_001352650:exon19:c.C2507T:p.T836I	.	.	.	.	.	.	.	.	.	.	.	2367701	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00625672700444	.	.	5.089e-05	0	0	0	0	7.462e-05	0	7.25e-05	3.23e-05	5	154602	rs756563788	4.796e-05	4.788e-05	4.09e-05	5.511e-05	0.0002	3.866e-05	3.546e-05	4.531e-05	4.118e-05	0	0	0	0	0	0.0002	5.673e-05	3.317e-05	4.656e-05	5.914e-05	5.91e-05	6.424e-05	5.38e-05	8.819e-05	3.077e-05	2.21e-05	3.761e-05	2.575e-05	4.827e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.209	0.29688	T	0.202	0.30241	T	.	.	.	.	.	.	0.017227	0.27776	N	0.432957	0.989464	0.24292	N	.	.	.	3.61	0.27032	T	-1.58	0.38151	N	0.093	0.12770	-1.0694	0.09545	T	0.035	0.15204	T	10	0.09077376	0.15844	T	0.006257	0.16435	T	0.017	0.02790	0.165	0.06955	0.24896430686	0.24499	0.10842497291168667	0.10771	.	.	0.290357470512	0.08974	T	.	.	.	-0.445526	0.01200	T	-0.695597	0.06069	T	0.0476945237497298	0.05088	T	0.808919	0.45897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19438	B	.;.;.;.	.;.;.;.	2.015156	0.25606	16.82	0.68863509388218991	0.08790	0.82343	0.41585	D	AEFDBIJ	0.095015	0.19204	N	-0.538217670117227	0.20855	1.10251	-0.432601882679581	0.24046	1.314643	0.99457099425074	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.7	0.31007	1.253000	0.32488	1.790000	0.28791	0.599000	0.40250	0.994000	0.38300	0.008000	0.19753	0.096000	0.18090	0.2661:0.5958:0.0:0.1381	6.139	0.19466	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2174.33	33	chr8	17962101	.	C	T	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.303;DP=897;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.556;SOR=0.506	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr8	18062345	18062345	G	T	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon8:c.C564A:p.N188K,ASAH1:NM_001363743:exon8:c.C387A:p.N129K,ASAH1:NM_004315:exon8:c.C630A:p.N210K,ASAH1:NM_177924:exon8:c.C582A:p.N194K	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1496752	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.0324151745682	.	.	4.942e-05	0	0	0	0	0	0.0022	0.0002	3.88e-05	6	154602	rs199909023	4.378e-05	4.378e-05	3.131e-05	5.638e-05	0.0007	3.509e-05	3.193e-05	0.0005	0.0005	0	0	0	0	0	0.0002	8.993e-07	6.623e-05	0.0007	5.258e-05	5.254e-05	1.285e-05	9.418e-05	0.0015	2.558e-05	1.83e-05	0.0007	0.0005	2.413e-05	0	0	0	0	0	0	0	0	0.0015	0.082	0.36113	T	0.185	0.33330	T	0.394	0.34702	B	0.329	0.42046	B	0.000015	0.62929	D	0.203609	0.967031	0.38568	D	2.36	0.67893	M	-1.61	0.82254	D	-4.06	0.74582	D	0.349	0.43320	-0.3459	0.73672	T	0.463	0.79223	T	10	0.20591092	0.36834	T	0.032415	0.54249	D	0.313	0.63482	0.625	0.76028	0.859801401501	0.85844	0.8216765474297976	0.82124	0.00355455249364	0.00305	0.578383207321	0.49858	T	0.794619	0.94699	D	-0.282784	0.10376	T	-0.276383	0.47174	T	0.175756770481746	0.18964	T	0.917308	0.74605	D	0.36759308	0.58407	0.34404737	0.60107	0.36200348	0.57989	0.25978968	0.51732	-5.087	0.37769	T	0.2107317438891996	0.28241	0.179	0.49216	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.319285	0.29694	18.21	0.98691640840471917	0.44766	0.85653	0.44809	D	AEFBI	0.559224	0.56812	D	-0.265038400176836	0.30508	1.701729	-0.196591060545136	0.31661	1.79393	0.793006110577199	0.24047	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.43	1.7	0.23359	1.483000	0.35105	2.141000	0.30844	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.3618:0.0:0.6382:0.0	8.630	0.33074	923	0.18507	Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	4662.81	33	chr8	18062345	.	G	T	4662.81	.	AC=2;AF=0.053;AN=38;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.09;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	18	1	0	0
chr8	18400442	18400442	C	A	exonic	NAT2	.	nonsynonymous SNV	NAT2:NM_000015:exon2:c.C439A:p.P147T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00654565044518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.68238	T	0.02	0.67890	D	0.979	0.59044	D	0.853	0.60815	P	0.000009	0.62929	D	0.065480	0.998859	0.21853	N	.	.	.	4.52	0.01997	T	-4.96	0.82638	D	0.355	0.43706	-1.0964	0.04556	T	0.019	0.08173	T	10	0.4824195	0.60510	T	0.006546	0.17243	T	0.165	0.42395	0.59	0.71874	0.566300147016	0.56294	0.4963628494616889	0.49557	0.0196461541109	0.01931	0.403991669416	0.25624	T	0.012274	0.10818	T	-0.0888985	0.38259	T	-0.365473	0.37417	T	0.98940521478653	0.79642	D	0.942906	0.80370	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.68202	A	.;.	.;.	2.967211	0.39537	21.0	0.97755591728587998	0.35770	0.73113	0.35768	D	AEFBI	0.703015	0.65919	D	0.13185576080911	0.47952	3.013995	-0.0695013573192904	0.36657	2.13617	1.45779638182446E-4	0.05573	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	2.77	2.77	0.31614	3.729000	0.54724	3.352000	0.37793	0.504000	0.22967	0.972000	0.34453	0.938000	0.28711	0.014000	0.10232	0.0:1.0:0.0:0.0	9.206	0.36451	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	103	chr8	18400442	.	C	A	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=2580;ExcessHet=0;FS=2.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.54;SOR=0.49	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	18	0	1	0
chr8	18867977	18867977	T	C	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_001362819:exon3:c.A1232G:p.Q411R,PSD3:NM_015310:exon4:c.A1331G:p.Q444R	.	430	1081	9	2	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0007	0.00179712	0.0020	0.0001	0.0018	0	0	0.0016	0.0078	0.0062	0.0017464	270	154602	rs189888746	0.0012	0.0012	0.0010	0.0013	0.0080	0.0011	0.0011	0.0061	0.0055	0.0007	0.0014	7.652e-05	0	1.872e-05	0.0080	0.0009	0.0021	0.0055	0.0011	0.0011	0.0010	0.0011	0.0066	0.0010	0.0009	0.0048	0.0042	0.0005	0	0.0016	0	0	0	0	0.0012	0.0043	0.0066	0.008	0.58626	D	0.301	0.20293	T	.	.	.	.	.	.	0.000416	0.44736	D	0.095008	0.95744	0.38024	D	1.625	0.41611	L	2.8	0.11189	T	-1.33	0.33197	N	0.893	0.89242	-1.1158	0.02615	T	0.037	0.16160	T	10	0.013253927	0.00282	T	.	.	.	0.155	0.40530	.	.	0.580280631899	0.57699	0.21215563428241743	0.21131	0.166028493942	0.18736	0.541642665863	0.44678	T	0.050224	0.28534	T	-0.237483	0.15672	T	-0.112123	0.62441	T	0.0417967977241197	0.04017	T	0.858914	0.57479	D	0.15114577	0.34374	0.19433507	0.43051	0.15114577	0.34374	0.19433507	0.43050	-4.332	0.28664	T	.	.	0.364	0.71152	A	.;.;.	.;.;.	4.275602	0.65092	24.8	0.99852193249917032	0.93102	0.94358	0.60911	D	AEFBI	0.659920	0.63067	D	0.458543836815341	0.64688	4.729223	0.50256047171868	0.68161	5.182245	0.99999867928014	0.74766	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	5.19	5.19	0.71428	5.764000	0.68476	6.151000	0.54196	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.285	0.59668	943	0.12886	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.010101	0.014946	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	1291.33	33	chr8	18867977	.	T	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.672;DP=773;ExcessHet=0;FS=4.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.523;SOR=0.38	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	18	0	1	0
chr8	19313807	19313807	A	-	exonic	SH2D4A	.	frameshift deletion	SH2D4A:NM_001174160:exon1:c.30delA:p.A12Rfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs565027575	3.615e-05	3.489e-05	2.912e-05	4.337e-05	0.0013	2.767e-05	2.493e-05	0.0006	0.0004	0	6.031e-05	0	0	3.013e-05	0.0013	3.472e-05	3.526e-05	0	5.912e-05	5.907e-05	5.143e-05	6.716e-05	0.0001	3.077e-05	2.21e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0.0068	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001259	0.006757	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	744.29	39	chr8	19313806	.	CA	C	744.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.818;DP=735;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.194;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1082	18	0	1	0
chr8	20255154	20255154	C	T	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon2:c.G28A:p.G10S,LZTS1:NM_021020:exon2:c.G28A:p.G10S	Esophageal squamous cell carcinoma, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	1973607	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0152345265628	.	.	8.348e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs770015908	1.642e-05	1.642e-05	1.225e-05	2.064e-05	2.069e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	0	0	0	0	0	0	2.069e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.42783	D	0.016	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048447	1	0.81001	D	2.175	0.60977	M	1.73	0.35219	T	-1.81	0.42575	N	0.312	0.64052	-0.8483	0.52086	T	0.198	0.55343	T	10	0.25355303	0.42724	T	0.015235	0.35857	T	0.150	0.39571	0.201	0.11522	0.371749281113	0.36790	0.6515803652921127	0.65094	0.861284270804	0.68974	0.661321640015	0.61598	T	0.284475	0.65725	T	0.0267349	0.55287	T	-0.0987436	0.63495	T	0.648226082324982	0.38386	D	0.805419	0.48674	T	0.2830805	0.51342	0.26691785	0.52543	0.2830805	0.51342	0.26691785	0.52542	-2.548	0.06118	T	0.2524974081505311	0.34160	0.131	0.38062	B	.;.;.;.	.;.;.;.	4.050724	0.60035	24.2	0.99873151139801597	0.95076	0.98952	0.89087	D	AEFDBI	0.849581	0.76640	D	0.722104445343259	0.81082	7.439546	0.755291169442877	0.86551	8.92581	0.999999999999988	0.74766	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.530356	0.10902	0	.	.	5.98	5.98	0.97147	5.823000	0.68956	4.824000	0.45142	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.022	0.92898	944	0.12746	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	929.33	33	chr8	20255154	.	C	T	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.046;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	18	0	1	0
chr8	21999193	21999193	G	A	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001362802:exon22:c.G2465A:p.S822N,XPO7:NM_001100161:exon23:c.G2558A:p.S853N,XPO7:NM_015024:exon23:c.G2531A:p.S844N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0193655611723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	5.445e-06	2.751e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.321	0.43913	T	0.116	0.54515	B	0.091	0.54472	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	0.89	0.45636	T	-2.12	0.48184	N	0.758	0.75834	-0.9049	0.47458	T	0.195	0.54855	T	10	0.4181844	0.56684	T	0.019366	0.41714	T	0.366	0.68582	.	.	0.0675242888579	0.06100	0.7189786172465736	0.71840	0.898319418033	0.70545	0.868975818157	0.92421	D	0.08064	0.36411	T	-0.0883235	0.38354	T	-0.364647	0.37514	T	0.769714117050171	0.44422	D	0.918008	0.86020	D	0.27744275	0.50802	0.33122456	0.58984	0.27744275	0.50802	0.33122456	0.58983	-6.378	0.49338	T	.	.	0.474	0.65452	A	.;.;.	.;.;.	4.647295	0.74039	26.1	0.99733174582213135	0.82904	0.99450	0.96181	D	AEFDGBI	0.927666	0.91069	D	0.477599380253253	0.65783	4.866274	0.606459199714847	0.75407	6.305225	0.999999999999623	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	10.003000	0.99689	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.782	0.96418	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4381.81	33	chr8	21999193	.	G	A	4381.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.08;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1377	18	1	0	0
chr8	22099789	22099789	G	A	exonic	FAM160B2	.	nonsynonymous SNV	FAM160B2:NM_001354250:exon10:c.G1234A:p.V412M,FAM160B2:NM_022749:exon10:c.G1237A:p.V413M,FAM160B2:NM_001354251:exon11:c.G1063A:p.V355M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0114689961864	.	.	4.196e-05	0.0001	8.721e-05	0	0	1.524e-05	0	0.0001	4.53e-05	7	154602	rs758671151	1.301e-05	1.505e-05	9.54e-06	1.652e-05	0.0002	8.32e-06	6.71e-06	3.768e-05	2.663e-05	2.992e-05	6.754e-05	0	2.52e-05	0	0.0002	5.397e-06	0	8.122e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.074	0.34621	T	0.047	0.48855	D	0.654	0.40793	P	0.21	0.37304	B	0.002591	0.36278	N	0.262894	0.999879	0.19925	N	2.025	0.55430	M	1.13	0.38556	T	-1.21	0.30762	N	0.476	0.51137	-0.9886	0.32953	T	0.085	0.33043	T	10	0.31772536	0.49179	T	0.011469	0.29127	T	0.076	0.22200	0.433	0.48336	0.451310735921	0.44754	0.281082126786444	0.28021	0.111051837786	0.12532	0.398141860962	0.24809	T	0.150184	0.48954	T	-0.31582	0.07246	T	-0.454762	0.27173	T	0.112837098538876	0.13715	T	0.90391	0.66280	D	0.03370611	0.03642	0.064799726	0.13040	0.03370611	0.03641	0.064799726	0.13039	-6.816	0.52678	T	.	.	0.108	0.20274	B	.	.	2.566042	0.33239	19.28	0.9917462231179045	0.54498	0.84806	0.43896	D	AEFDBCI	0.199526	0.32632	N	-0.0816314959235961	0.38197	2.233578	-0.0889985785464323	0.35844	2.07858	0.999991331240896	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	4.76	0.60189	3.243000	0.51090	3.982000	0.40914	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.021000	0.11733	0.0907:0.1692:0.7401:0.0	7.427	0.26277	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	749.33	34	chr8	22099789	.	G	A	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.047;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	18	0	1	0
chr8	22116337	22116337	G	C	exonic	HR	.	nonsynonymous SNV	HR:NM_018411:exon17:c.C3305G:p.P1102R,HR:NM_005144:exon18:c.C3470G:p.P1157R	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	1	1510	11	0	0	11	0.00362917	.	.	.	313744	not_provided|Atrichia_with_papular_lesions|Intellectual_disability,_autosomal_dominant_14|Alopecia_universalis_congenita	MedGen:C3661900|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.319	.	.	0.0153754	0.0098	9.879e-05	0.0004	0	0	7.685e-05	0.0035	0.0699	0.0082535	1276	154602	rs201030061	0.0043	0.0043	0.0024	0.0062	0.0686	0.0042	0.0042	0.0672	0.0666	0.0002	0.0003	3.827e-05	0	0	0.0029	3.148e-05	0.0049	0.0686	0.0023	0.0023	0.0011	0.0036	0.0697	0.0021	0.0020	0.0636	0.0612	0.0001	0	0.0006	0	0	0	0	2.94e-05	0.0005	0.0697	1.0	0.41364	T	0.005	0.72224	D	0.177	0.35913	B	0.1	0.42698	B	0.174642	0.17273	N	0.527198	0.978909	0.25218	N	1.1	0.28011	L	-0.71	0.72889	T	4.15	0.01107	N	0.411	0.45142	-0.8574	0.51448	T	0.245	0.61377	T	10	0.0031084716	0.00052	T	.	.	.	0.319	0.64112	.	.	0.824869605419	0.82321	0.6212478303390927	0.62057	0.272563569154	0.29765	0.28440362215	0.08114	T	0.029246	0.20999	T	-0.24446	0.14785	T	-0.0720776	0.65477	T	0.0523141331578638	0.05901	T	0.786121	0.42437	T	0.084809214	0.19645	0.14101413	0.33596	0.09896246	0.23350	0.13241446	0.31775	-1.755	0.26751	T	.	.	0.09	0.12607	B	.;.	.;.	2.570559	0.33311	19.30	0.30040423048899362	0.01623	0.91891	0.54487	D	AEFDBCI	0.488425	0.52675	N	-0.153918081363532	0.35069	2.009625	-0.0178405263278537	0.38910	2.299192	0.999999993533635	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.1	5.1	0.68917	3.213000	0.50855	3.785000	0.39806	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	14.047	0.64231	602	0.67834	JmjC domain|JmjC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005550	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.026515	0.02632	1664.33	34	chr8	22116337	.	G	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=770;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.13;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	18	0	1	0
chr8	22138686	22138686	G	A	exonic	REEP4	.	nonsynonymous SNV	REEP4:NM_025232:exon7:c.C661T:p.R221C	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	0.0043	0.00359425	0.0055	0.0015	0.0033	0.0001	0.0014	0.0061	0.0044	0.0115	0.0055303	855	154602	rs117450750	0.0056	0.0056	0.0053	0.0058	0.0119	0.0055	0.0054	0.0113	0.0110	0.0007	0.0041	0.0026	5.038e-05	0.0015	0.0054	0.0058	0.0047	0.0119	0.0046	0.0046	0.0045	0.0047	0.0095	0.0043	0.0042	0.0073	0.0066	0.0015	0.0385	0.0073	0.0012	0	0.0005	0.0068	0.0062	0.0038	0.0095	0.001	0.78490	D	0.002	0.79402	D	0.004	0.12183	B	0.001	0.04355	B	0.000034	0.55875	D	0.000000	0.957518	0.51612	D	3.115	0.87836	M	-2.44	0.88767	D	-3.37	0.66665	D	0.609	0.62611	-0.1694	0.78443	T	0.478	0.80002	T	10	0.007106751	0.00162	T	.	.	.	0.332	0.65424	.	.	0.727179310058	0.72475	0.48868743946425386	0.48788	0.896211288583	0.70471	0.547908902168	0.45563	T	0.238315	0.60619	T	-0.218068	0.18257	T	-0.0756281	0.65221	T	0.0834535804151129	0.10423	T	0.910709	0.68343	D	0.42042944	0.62120	0.24099955	0.49487	0.42042944	0.62121	0.24099955	0.49486	-10.273	0.75530	D	.	.	0.324	0.54825	B	.	.	4.753819	0.76787	26.6	0.99890622921302064	0.96513	0.86785	0.46142	D	AEFBHCI	0.408690	0.48027	N	-0.210266376894166	0.32713	1.847808	-0.134069674508256	0.34026	1.952779	0.999971961124785	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.0	4.13	0.47661	1.672000	0.37139	8.524000	0.77433	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.908000	0.44358	0.0932:0.0:0.7266:0.1802	6.406	0.20867	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.100000	0.000000	0.015244	0.000000	0.02632	2438.33	34	chr8	22138686	.	G	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=833;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.093;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr8	22209457	22209457	A	T	exonic	BMP1	.	nonsynonymous SNV	BMP1:NM_006129:exon19:c.A2588T:p.Q863L	Osteogenesis imperfecta, type XIII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00595112109051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.308	0.19845	T	0.0	0.02946	B	0.005	0.11217	B	0.041871	0.23902	U	0.207319	0.520563	0.81001	D	-0.135	0.04517	N	2.21	0.18414	T	-2.07	0.47344	N	0.392	0.43320	-1.0026	0.29168	T	0.015	0.06234	T	10	0.21043146	0.37438	T	0.005951	0.15520	T	0.062	0.17934	0.498	0.58835	0.228066490088	0.22430	0.27525897600846183	0.27438	0.387447643951	0.40021	0.349228739738	0.17808	T	0.12017	0.44222	T	-0.23708	0.15723	T	-0.578325	0.14694	T	0.073889607332888	0.09187	T	0.732227	0.34774	T	0.058051545	0.11632	0.045109425	0.05996	0.058051545	0.11631	0.045109425	0.05996	-7.022	0.54194	T	0.1263106874560925	0.12728	0.09	0.12607	B	.	.	2.585929	0.33535	19.37	0.9322062738727861	0.22898	0.46323	0.27734	N	AEFDBI	0.360543	0.45047	N	-0.928927758695274	0.10170	0.4847115	-0.818746573116587	0.14041	0.7316385	0.999677327695044	0.41644	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.75	2.3	0.27735	0.421000	0.20999	5.427000	0.48582	0.756000	0.94297	0.002000	0.15269	1.000000	0.68203	0.494000	0.28882	0.6022:0.159:0.0856:0.1531	2.363	0.04048	597	0.68309	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1442.33	35	chr8	22209457	.	A	T	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.69;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.155;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1362	18	0	1	0
chr8	22281502	22281502	G	A	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon4:c.G412A:p.V138I,PIWIL2:NM_001330480:exon4:c.G412A:p.V138I,PIWIL2:NM_018068:exon4:c.G412A:p.V138I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00219649	0.0013	0	0	0	0	0	0.0033	0.0099	0.0011578	179	154602	rs544698493	0.0006	0.0006	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0	3.037e-05	0	2.565e-05	0	0.0002	1.087e-05	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	0	0	0.0001	0	0	0	0	4.412e-05	0	0.0116	0.602	0.05601	T	0.769	0.05018	T	0.001	0.07471	B	0.001	0.04355	B	0.529317	0.11656	N	0.757107	0.999974	0.18612	N	0.55	0.14455	N	3.68	0.04151	T	-0.01	0.07155	N	0.173	0.22998	-0.9269	0.44588	T	0.007	0.02321	T	10	0.004895836	0.00104	T	.	.	.	0.067	0.19503	0.245	0.17984	0.21279746466	0.20884	0.14544534189663996	0.14467	0.0556849363162	0.06156	0.286973148584	0.08484	T	0.029606	0.21175	T	-0.746954	0.00019	T	-0.838048	0.01128	T	0.0131848413034316	0.00233	T	0.657134	0.26688	T	0.024846176	0.01357	0.023149146	0.00330	0.024846176	0.01357	0.023149146	0.00330	-4.332	0.28623	T	.	.	0.070	0.05800	B	.;.;.;.	.;.;.;.	0.923567	0.12983	9.491	0.71654255260329325	0.09703	0.02288	0.06590	N	AEFBI	0.057509	0.10717	N	-0.831040293555224	0.12521	0.6108683	-0.749022203022093	0.15747	0.8296911	0.0188757765572567	0.13105	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.55	-1.04	0.09555	-0.387000	0.07419	-2.067000	0.04263	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.3374:0.1583:0.2723:0.232	0.333	0.00300	575	0.70088	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1121.33	35	chr8	22281502	.	G	A	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=748;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.233;SOR=1.045	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr8	22288600	22288600	A	G	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon8:c.A920G:p.Q307R,PIWIL2:NM_001330480:exon8:c.A920G:p.Q307R,PIWIL2:NM_018068:exon8:c.A920G:p.Q307R	.	436	1079	6	1	0	8	0.00369344	.	.	.	3369004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00512999823641	0.0005	.	0.0009	9.612e-05	0.0010	0	0	0.0011	0.0033	0.0011	0.000718	111	154602	rs139570286	0.0007	0.0007	0.0007	0.0008	0.0137	0.0007	0.0007	0.0113	0.0104	0.0003	0.0013	0.0064	0	1.872e-05	0.0137	0.0005	0.0013	0.0012	0.0005	0.0005	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0006	0.0001	0	0.0012	0.0055	0	0	0.0136	0.0004	0.0019	0.0010	0.717	0.03972	T	0.79	0.04416	T	0.011	0.15914	B	0.014	0.16862	B	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	1.365	0.34158	L	2.9	0.10101	T	-1.4	0.35399	N	0.767	0.79986	-1.0005	0.29774	T	0.021	0.08963	T	10	0.03648454	0.01948	T	0.00513	0.13032	T	0.188	0.46444	.	.	0.435043484731	0.43121	0.605096334858457	0.60440	0.0750347424609	0.08415	0.450922548771	0.32071	T	0.077293	0.35622	T	-0.181355	0.23533	T	-0.0633593	0.66097	T	0.455274134874344	0.30991	T	0.832417	0.50060	T	0.29646942	0.52586	0.21095243	0.45504	0.29646942	0.52586	0.21095243	0.45503	-8.883	0.66940	D	.	.	0.188	0.44617	B	.;.;.;.	.;.;.;.	3.662309	0.52037	23.2	0.99603220228445932	0.74338	0.98170	0.80208	D	AEFBI	0.904989	0.85595	D	-0.0508150995934382	0.39565	2.33531	0.184689841771301	0.49009	3.109298	0.999999998808691	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.478617	0.07155	0	.	.	5.88	5.88	0.94564	8.485000	0.90290	11.199000	0.88958	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	1.0:0.0:0.0:0.0	15.258	0.73293	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.009511	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	1161.33	33	chr8	22288600	.	A	G	1161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.212;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	18	0	1	0
chr8	22311211	22311211	A	C	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon16:c.A1900C:p.M634L,PIWIL2:NM_001330480:exon16:c.A1900C:p.M634L,PIWIL2:NM_018068:exon16:c.A1900C:p.M634L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00387253808631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.383	0.15842	T	0.005	0.12996	B	0.004	0.10090	B	0.000011	0.62929	D	0.198523	0.998905	0.45657	D	1.775	0.45938	L	2.68	0.12371	T	-0.74	0.20791	N	0.389	0.43803	-1.1163	0.02580	T	0.036	0.15683	T	10	0.30078137	0.47623	T	0.003873	0.09086	T	0.090	0.26093	0.567	0.68901	0.384584525793	0.38071	0.4003216445435457	0.39947	0.0625795491444	0.06963	0.480480074883	0.36123	T	0.087568	0.37971	T	-0.212122	0.19080	T	-0.542475	0.18054	T	0.716357529163361	0.41515	D	0.785321	0.42297	T	0.23371388	0.46180	0.24801284	0.50343	0.23371388	0.46180	0.24801284	0.50342	-6.368	0.49260	T	.	.	0.142	0.34732	B	.;.;.;.	.;.;.;.	2.803996	0.36894	20.4	0.95914395652185935	0.28169	0.76794	0.37692	D	AEFBCI	0.367167	0.45472	N	-0.0470929301591825	0.39732	2.34785	0.135677500936955	0.46388	2.885556	0.972901751470781	0.29410	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	3.295000	0.51501	11.261000	0.91078	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.807	0.69594	599	0.68140	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	34	chr8	22311211	.	A	C	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=778;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.79;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	18	0	1	0
chr8	22554598	22554598	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_005775:exon2:c.G92A:p.R31Q	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.000798722	0.0023	0.0002	0	0	0	0	0.0038	0.0165	0.0017205	266	154602	rs370407437	0.0009	0.0009	0.0005	0.0013	0.0139	0.0008	0.0008	0.0132	0.0129	0.0001	0	0	0	0	0	2.429e-05	0.0009	0.0139	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	9.62e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0075	0.32	0.13566	T	0.631	0.07173	T	0.012	0.16265	B	0.002	0.06944	B	0.137157	0.18422	N	0.382183	0.999715	0.20609	N	1.245	0.31408	L	3.26	0.06681	T	-0.2	0.10136	N	0.189	0.20660	-0.9216	0.45334	T	0.011	0.04369	T	10	0.0056011677	0.00124	T	.	.	.	0.012	0.01476	.	.	0.176091768786	0.17195	0.1951051932140859	0.19427	0.128183651775	0.14451	0.223996162415	0.01553	T	0.085021	0.37409	T	-0.643293	0.00080	T	-0.684498	0.06713	T	0.014247965909349	0.00282	T	0.722228	0.33571	T	0.033972826	0.03722	0.029159436	0.01225	0.033972826	0.03722	0.029159436	0.01224	-3.236	0.12926	T	.	.	0.073	0.04847	B	.	.	0.968347	0.13455	9.961	0.97814411019667447	0.36148	0.03558	0.08763	N	AEFDGBCIJ	0.078078	0.15746	N	-1.09802946966476	0.06679	0.3081682	-1.05724375674671	0.08556	0.4212664	0.999989910843616	0.51787	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	5.21	-1.51	0.08207	-1.090000	0.03483	-0.794000	0.07402	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.4263:0.1312:0.4425:0.0	5.716	0.17232	810	0.42761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	591.33	36	chr8	22554598	.	G	A	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.12;DP=674;ExcessHet=0;FS=6.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.32;SOR=1.708	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1161	18	0	1	0
chr8	22571127	22571127	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_001018003:exon7:c.G623A:p.R208H,SORBS3:NM_005775:exon18:c.G1649A:p.R550H	.	429	1076	14	3	0	20	0.0092081	.	.	.	736591	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00379105092033	0.0029	0.00139776	0.0023	0.0008	0.0017	0.0001	0.0012	0.0035	0.0012	0.0003	0.0024515	379	154602	rs34059820	0.0031	0.0031	0.0031	0.0031	0.0040	0.0030	0.0030	0.0035	0.0035	0.0005	0.0017	0.0010	2.522e-05	0.0012	0.0040	0.0036	0.0035	0.0005	0.0022	0.0022	0.0026	0.0018	0.0037	0.0020	0.0019	0.0033	0.0031	0.0007	0	0.0028	0.0009	0	0.0006	0.0068	0.0037	0.0014	0.0006	0.149	0.24758	T	0.124	0.35455	T	0.004	0.12183	B	0.002	0.06944	B	0.458360	0.12422	N	0.658159	1	0.08975	N	0.55	0.14455	N	3.24	0.14783	T	-0.47	0.15178	N	0.037	0.01203	-0.9917	0.32167	T	0.018	0.07376	T	10	0.0045835674	0.00095	T	0.003791	0.08837	T	0.037	0.09474	.	.	0.28058544554	0.27657	0.32226341383448587	0.32139	0.136299683777	0.15377	0.319998681545	0.13421	T	0.065093	0.32602	T	-0.538305	0.00343	T	-0.54717	0.17599	T	0.00203285094609773	0.00021	T	0.505249	0.25529	T	0.021743653	0.00794	0.017744385	0.00038	0.021743653	0.00794	0.017744385	0.00038	-3.678	0.19422	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	0.597675	0.09663	6.433	0.97125673577235394	0.32473	0.10443	0.15949	N	AEFDBCI	0.082205	0.16642	N	-1.13940780157747	0.05956	0.2729308	-1.15917522011607	0.06605	0.318468	0.999720587285986	0.42220	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.76	-1.37	0.08582	-0.284000	0.08456	0.410000	0.18100	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.026000	0.12556	0.383:0.0:0.4823:0.1347	5.441	0.15809	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1172.33	37	chr8	22571127	.	G	A	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.526;DP=728;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.344;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	18	0	1	0
chr8	22579203	22579203	C	G	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_021630:exon1:c.C424G:p.R142G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.116394088399	.	.	0.0020	0	0	0	.	0	0	0.0026	6.47e-05	10	154602	rs757530477	7.292e-05	7.798e-05	3.486e-05	0.0001	0.0012	6.033e-05	5.584e-05	0.0010	0.0009	0	0.0002	0	0	0	0	1.295e-05	0.0001	0.0012	3.292e-05	3.284e-05	1.287e-05	5.394e-05	0.0008	1.263e-05	7.99e-06	0.0003	0.0002	0	0	6.555e-05	0	0	0	0	0	0	0.0008	0.093	0.31532	T	0.189	0.28575	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.21	0.04776	N	0.201	0.22228	-1.0449	0.15854	T	0.029	0.12585	T	6	0.009857386	0.00221	T	0.116394	0.79587	D	0.051	0.14325	0.238	0.16912	0.335414705075	0.33150	0.06725961895051882	0.06663	0.0974248291006	0.11002	0.763840258121	0.76502	T	.	.	.	-0.653603	0.00069	T	-0.757184	0.03214	T	0.0238708107466342	0.01129	T	0.325667	0.06705	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.085	0.09965	B	.;.	.;.	1.551373	0.19880	14.48	0.68043650060550465	0.08538	0.42871	0.26973	N	ALL	0.115680	0.22735	N	-0.384360093435654	0.26026	1.417276	-0.468378749097557	0.23029	1.253861	0.999999991938095	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.01	4.11	0.47350	-0.001000	0.12880	0.657000	0.20469	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.0:0.8143:0.1857:0.0	11.226	0.48116	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	388.33	31	chr8	22579203	.	C	G	388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.025;SOR=0.675	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,526	18	0	1	0
chr8	22585023	22585023	G	A	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_001368120:exon4:c.G322A:p.V108M,PDLIM2:NM_176871:exon4:c.G322A:p.V108M,PDLIM2:NM_198042:exon4:c.G322A:p.V108M,PDLIM2:NM_021630:exon5:c.G1072A:p.V358M	.	.	.	.	.	.	.	.	.	.	.	4050877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00992634506106	.	.	8.259e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs369965465	2.395e-05	2.463e-05	2.859e-05	1.926e-05	0.0002	1.739e-05	1.539e-05	1.627e-05	1.382e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0002	2.338e-05	4.968e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.09	0.44029	T	0.054	0.47097	T	0.974	0.61118	D	0.252	0.51564	B	0.835464	0.06967	N	1.091000	1	0.08975	N	1.65	0.42232	L	2.7	0.12162	T	-0.11	0.13611	N	0.183	0.22614	-1.0336	0.19300	T	0.042	0.18118	T	10	0.0893133	0.15459	T	0.009926	0.25856	T	0.079	0.23065	0.25	0.18757	0.288352970974	0.28455	0.23026959857131576	0.22941	0.193480424413	0.21683	0.297068357468	0.09965	T	0.01261	0.41617	T	-0.302905	0.08387	T	-0.572248	0.15245	T	0.105343529413332	0.12934	T	0.69513	0.32156	T	0.03408981	0.03758	0.050430886	0.07914	0.03408981	0.03758	0.050430886	0.07914	-5.549	0.44180	T	.	.	0.094	0.23395	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.766834	0.11369	7.982	0.99509362677637969	0.68499	0.03958	0.09362	N	AEFDGBHCI	0.043414	0.06861	N	-0.60022563012708	0.18937	0.9872615	-0.723223945701933	0.16383	0.8664039	0.999999889729954	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	5.4	0.857	0.18162	-0.393000	0.07366	0.379000	0.17760	-0.148000	0.12190	0.000000	0.06391	0.006000	0.19429	0.030000	0.13115	0.2943:0.2541:0.2895:0.1621	0.599	0.00693	863	0.32847	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1269.33	63	chr8	22585023	.	G	A	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.043;DP=1013;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.25;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	18	0	1	0
chr8	23007425	23007425	G	A	exonic	RHOBTB2	.	nonsynonymous SNV	RHOBTB2:NM_001160037:exon5:c.G1201A:p.V401M,RHOBTB2:NM_001374791:exon5:c.G1180A:p.V394M,RHOBTB2:NM_015178:exon5:c.G1180A:p.V394M,RHOBTB2:NM_001160036:exon7:c.G1246A:p.V416M	.	435	1078	9	0	0	9	0.00415704	.	.	.	1600843	RHOBTB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	0.0175831749477	0.0004	.	0.0007	0	8.639e-05	0	0	0.0008	0.0011	0.0021	0.000608	94	154602	rs146017675	0.0005	0.0005	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	0	2.236e-05	0.0104	2.519e-05	0	0.0021	0.0001	0.0012	0.0022	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0	0	0.0063	0	0	0.0034	0.0001	0.0019	0.0014	0.184	0.21634	T	0.202	0.27414	T	0.619	0.39896	P	0.675	0.53279	P	0.000405	0.44736	D	0.191733	0.989003	0.40869	D	1.15	0.29295	L	-0.25	0.67011	T	-0.5	0.15782	N	0.276	0.36359	-0.4905	0.68991	T	0.331	0.69826	T	10	0.009938806	0.00223	T	0.017583	0.39335	T	0.199	0.48268	.	.	0.570695249167	0.56736	0.4397869780712526	0.43895	0.557296526033	0.52351	0.65321791172	0.60443	T	0.328183	0.69862	T	-0.352977	0.04543	T	-0.285041	0.46286	T	0.086763589009645	0.10830	T	0.952205	0.81731	D	0.045605917	0.07495	0.07011369	0.14857	0.04551959	0.07464	0.076186895	0.16849	-5.035	0.37218	T	0.1870918858929928	0.24379	0.153	0.33913	B	.;.;.	.;.;.	2.784753	0.36587	20.3	0.99888463966361862	0.96281	0.89568	0.50115	D	AEFDBI	0.363131	0.45214	N	0.258930368910378	0.54083	3.57472	0.306696190387311	0.55931	3.756132	0.999999896177258	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.474000	0.21858	2.135000	0.30806	-0.126000	0.13398	0.142000	0.23535	1.000000	0.68203	0.997000	0.79791	0.0864:0.0:0.9136:0.0	11.855	0.51706	917	0.20147	.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	2673.33	121	chr8	23007425	.	G	A	2673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.579;DP=1909;ExcessHet=0;FS=3.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.038;SOR=0.495	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr8	23137883	23137883	G	A	exonic	TNFRSF10D	.	nonsynonymous SNV	TNFRSF10D:NM_003840:exon9:c.C1148T:p.T383M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.026288925373	.	0.00119808	0.0010	0	8.642e-05	0	0	0	0.0011	0.0077	0.0008409	130	154602	rs373138944	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0064	0.0062	2.989e-05	2.242e-05	0	0	0	0.0002	4.497e-06	0.0006	0.0068	0.0002	0.0002	5.138e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0066	0.004	0.65419	D	0.247	0.23914	T	.	.	.	.	.	.	0.008077	0.01192	U	11.922200	1	0.08975	N	.	.	.	-1.53	0.81559	D	-0.39	0.13611	N	0.056	0.02759	-0.8631	0.51039	T	0.221	0.58383	T	10	0.004205197	0.00084	T	0.026289	0.49208	D	0.157	0.40909	0.25	0.18757	0.117506650769	0.11410	0.04727911487942922	0.04670	0.191774986612	0.21510	0.250372827053	0.03807	T	.	.	.	-0.563525	0.00242	T	-0.578516	0.14677	T	0.0163697783296855	0.00405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	0.582876	0.09512	6.290	0.29221791579648049	0.01539	0.00029	0.00276	N	AEFDBI	0.011577	0.00105	N	-1.61109353529118	0.01210	0.05261683	-1.67630173564412	0.01246	0.05613728	0.873001691943698	0.25457	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.1	-2.55	0.05922	-0.426000	0.07076	-1.896000	0.04535	-1.840000	0.00582	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6135:0.0:0.1686:0.2179	2.880	0.05298	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	758.33	33	chr8	23137883	.	G	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=679;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.31;SOR=0.27	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	18	0	1	0
chr8	23249347	23249347	C	T	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon2:c.C107T:p.A36V,CHMP7:NM_001363183:exon2:c.C437T:p.A146V,CHMP7:NM_152272:exon3:c.C437T:p.A146V	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.012568833314	0.0009	0.00159744	0.0015	0.0002	0.0003	0	0	0.0011	0.0023	0.0070	0.001313	203	154602	rs149327190	0.0010	0.0010	0.0008	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	5.998e-05	0.0005	0.0023	5.061e-05	1.875e-05	0.0038	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0060	0.0006	0.0006	0.0043	0.0037	0.0002	0	0.0005	0.0020	0	9.427e-05	0	0.0008	0.0005	0.0060	0.261	0.16520	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.083396	0.20756	N	0.519807	0.999726	0.20581	N	-1.04	0.01097	N	0.33	0.58323	T	-0.47	0.15178	N	0.121	0.11197	-1.0553	0.12961	T	0.075	0.30242	T	10	0.006122589	0.00138	T	0.012569	0.31260	T	0.037	0.09474	.	.	0.478353003129	0.47464	0.1985158102354756	0.19768	0.613198805805	0.55896	0.357447326183	0.19013	T	0.034475	0.23338	T	-0.527984	0.00395	T	-0.527603	0.19526	T	0.0113071901522522	0.00167	T	0.812919	0.46506	T	0.06704443	0.14481	0.063062795	0.12434	0.06704443	0.14480	0.063062795	0.12434	-3.978	0.23473	T	.	.	0.087	0.11220	B	.;.	.;.	2.024612	0.25732	16.87	0.2089172450394704	0.00772	0.47149	0.27918	N	AEFDBCI	0.084966	0.17222	N	-0.510480017359591	0.21740	1.155969	-0.310405356382386	0.27761	1.542788	0.999994355004378	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	1.272000	0.32712	4.871000	0.45567	0.547000	0.25779	0.593000	0.27690	1.000000	0.68203	0.934000	0.47231	0.2635:0.6543:0.0:0.0822	7.057	0.24283	760	0.50470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1540.33	40	chr8	23249347	.	C	T	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=807;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=1.76;SOR=0.81	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr8	23289894	23289894	C	T	exonic	R3HCC1	.	nonsynonymous SNV	R3HCC1:NM_001136108:exon4:c.C277T:p.P93S,R3HCC1:NM_001301650:exon4:c.C277T:p.P93S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0473274804046	.	.	0.0001	0	0	0	0.0008	0	0	0	6.5e-06	1	154602	rs758607004	3.924e-05	3.694e-05	3.296e-05	4.57e-05	0.0004	3.074e-05	2.753e-05	6.202e-05	3.059e-05	6.35e-05	0	0	0	0	0.0004	4.467e-05	3.475e-05	0	1.97e-05	1.97e-05	0	4.032e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.381	0.11156	T	0.282	0.21545	T	.	.	.	.	.	.	0.371689	0.13518	N	0.739029	1	0.81001	D	.	.	.	2.56	0.13673	T	-1.51	0.36787	N	0.114	0.17140	-1.0812	0.07118	T	0.050	0.21143	T	7	0.07470012	0.11452	T	0.047327	0.62870	D	0.100	0.28662	0.286	0.24440	0.0551355673512	0.04727	0.37116697371024143	0.37030	.	.	.	.	.	0.025839	0.19240	T	-0.40373	0.02188	T	-0.627323	0.10619	T	0.0762562975287437	0.09501	T	0.70393	0.31676	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09772	B	.;.;.;.;.;.	.;.;.;.;.;.	0.809397	0.11805	8.374	0.99186359232798638	0.54848	0.52871	0.29235	D	AEFBCI	0.179369	0.30666	N	0.115804457336783	0.47199	2.949062	0.164046205031514	0.47890	3.012635	0.999999975807942	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.71	4.84	0.62125	0.063000	0.14285	0.107000	0.14728	-0.192000	0.09343	0.098000	0.22752	0.002000	0.18203	0.110000	0.18741	0.0:0.9187:0.0:0.0813	11.893	0.51924	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2151.33	33	chr8	23289894	.	C	T	2151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=796;ExcessHet=0;FS=7.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.258;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr8	23296097	23296097	A	C	exonic	R3HCC1	.	stoploss	R3HCC1:NM_001136108:exon8:c.A1323C:p.X441C,R3HCC1:NM_001301650:exon9:c.A1197C:p.X399C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.003	0.00025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253457	0.13678	T	-0.60185	0.12656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.993053	0.13709	10.25	0.78542417947018794	0.12346	0.12985	0.17597	N	AEFDGBHCI	.	.	.	0.308875575499837	0.56604	3.82527	-0.0196973747513916	0.38827	2.293106	0.999993002895797	0.74766	0.188448	0.04014	1	0.149076	0.03524	2	0.333777	0.05875	0	0.318687	0.05536	1	0.0841756	0.19184	5.65	1.95	0.25130	0.896000	0.28009	4.101000	0.41864	0.756000	0.94297	0.111000	0.23011	0.998000	0.33993	0.112000	0.18829	0.6839:0.1548:0.1613:0.0	5.084	0.14010	639	0.64210	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	544.33	33	chr8	23296097	.	A	C	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.703;DP=637;ExcessHet=0;FS=6.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.603;SOR=1.071	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr8	23316985	23316985	C	T	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon9:c.G1600A:p.G534R	.	211	1309	2	0	0	2	0.000763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	.	0.0012	0.014377	0.0134	0.0021	0.0942	0.0142	0.0353	0.0020	0.0170	0.0006	0.0120309	1860	154602	rs149587418	0.0046	0.0046	0.0050	0.0041	0.0795	0.0045	0.0045	0.0773	0.0764	0.0011	0.0795	0	0.0160	0.0333	0.0002	0.0003	0.0048	0.0011	0.0092	0.0092	0.0071	0.0114	0.0465	0.0088	0.0086	0.0436	0.0425	0.0024	0	0.0465	0	0.0164	0.0380	0	0.0011	0.0061	0.0017	0.003	0.68238	D	0.11	0.37310	T	0.939	0.52645	P	0.889	0.63100	P	0.000001	0.84330	D	0.093979	1	0.81001	D	0.88	0.21560	L	1.54	0.30133	T	-5.72	0.87531	D	0.245	0.27673	-1.0364	0.18419	T	0.038	0.16333	T	10	0.0035539567	0.00064	T	.	.	.	0.238	0.54217	0.451	0.51285	.	.	0.7230398605622168	0.72247	0.653833512896	0.58498	0.488958775997	0.37293	T	0.148974	0.48777	T	-0.341065	0.05315	T	-0.196748	0.54955	T	0.0431123634363572	0.04258	T	0.846915	0.52723	T	0.7075414	0.78472	0.6326163	0.78563	0.7075414	0.78473	0.6326163	0.78564	-10.181	0.74988	D	.	.	0.139	0.30450	B	.	.	4.254742	0.64612	24.7	0.99913626150655943	0.98238	0.95563	0.65220	D	AEFDBCI	0.773006	0.70715	D	0.508428002978768	0.67586	5.101513	0.434498221282481	0.63726	4.612409	0.999999999999999	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.39	5.39	0.77615	5.038000	0.63972	0.408000	0.18078	0.587000	0.30956	0.983000	0.35670	0.000000	0.08366	0.734000	0.35233	0.0:1.0:0.0:0.0	18.097	0.89422	713	0.56348	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	rs149587418	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1349.33	63	chr8	23316985	.	C	T	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=904;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-1.501;SOR=0.591	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1469	18	0	1	0
chr8	23368195	23368195	C	A	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon2:c.G157T:p.V53L	.	412	1078	32	0	0	32	0.0146252	.	.	.	723015	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0013	0.00279553	0.0032	0.0003	0.0041	0	0	0.0020	0.0067	0.0119	0.0027943	432	154602	rs138503568	0.0021	0.0021	0.0017	0.0025	0.0123	0.0020	0.0020	0.0116	0.0114	0.0002	0.0025	0.0053	0	0.0003	0.0076	0.0014	0.0025	0.0123	0.0015	0.0015	0.0014	0.0016	0.0126	0.0014	0.0013	0.0101	0.0092	9.622e-05	0	0.0015	0.0069	0	0.0002	0.0034	0.0017	0.0014	0.0126	0.361	0.31088	T	0.589	0.92824	T	0.001	0.07471	B	0.004	0.10090	B	0.007622	0.31286	N	0.300165	0.999855	0.20048	N	2.215	0.62545	M	5.14	0.10008	T	-0.35	0.28084	N	0.263	0.29774	-1.0182	0.24301	T	0.030	0.13111	T	10	0.004447818	0.00091	T	.	.	.	0.087	0.25287	0.41	0.44559	0.199424873507	0.19547	0.43502478910142706	0.43419	0.153478402349	0.17316	0.548901617527	0.45702	T	0.013447	0.17955	T	-0.549969	0.00292	T	-0.552381	0.17097	T	0.0182554409845475	0.00545	T	0.829717	0.53152	T	0.05512299	0.10670	0.054311227	0.09319	0.05512299	0.10670	0.054311227	0.09318	-3.201	0.12493	T	.	.	0.156	0.64622	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.858964	0.23613	16.09	0.96983787674592004	0.31871	0.49742	0.28503	N	AEFDBCI	0.236684	0.35909	N	-0.667628289471856	0.16949	0.8679942	-0.66180091335689	0.17919	0.9549836	0.999878827411071	0.44625	0.706548	0.73137	0	0.59043	0.45803	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.5	4.62	0.56946	0.771000	0.26294	2.707000	0.34206	0.599000	0.40250	0.001000	0.13787	0.911000	0.28135	0.196000	0.21779	0.0:0.9218:0.0:0.0782	13.099	0.58622	816	0.41767	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.002924	0.000000	0.008621	0.006098	0.018939	0.02632	899.33	33	chr8	23368195	.	C	A	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=748;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.232;SOR=0.844	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr8	23441694	23441694	G	A	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon8:c.C757T:p.P253S,ENTPD4:NM_004901:exon8:c.C757T:p.P253S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.013955926603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.201	0.34477	T	0.283	0.52883	B	0.223	0.50090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	2.44	0.15145	T	-1.48	0.36189	N	0.721	0.73285	-1.1576	0.00816	T	0.064	0.26420	T	10	0.52877486	0.63062	D	0.013956	0.33748	T	0.148	0.39182	0.331	0.31681	0.65055306113	0.64764	0.53631713733905	0.53556	0.4136943232	0.42065	0.588015317917	0.51214	T	0.010471	0.28168	T	0.0478509	0.58067	T	-0.169042	0.57530	T	0.813016885587449	0.47262	D	0.916508	0.70155	D	0.19595936	0.41405	0.16814098	0.38750	0.19595936	0.41405	0.16814098	0.38749	-1.966	0.05436	T	.	.	0.139	0.41464	B	.;.;.	.;.;.	4.256322	0.64649	24.7	0.99924034039084109	0.98980	0.99822	0.99687	D	AEFDBI	0.903572	0.85282	D	0.531172151754029	0.68942	5.287336	0.631501850209019	0.77241	6.641314	0.999999999999977	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.335000	0.96432	11.908000	0.99523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.767	0.91842	817	0.41665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2190.33	34	chr8	23441694	.	G	A	2190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.071;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1360	18	0	1	0
chr8	23447844	23447844	T	C	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon4:c.A248G:p.N83S,ENTPD4:NM_004901:exon4:c.A248G:p.N83S	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0028	0.00379393	0.0054	0.0008	0.0029	0.0001	0.0302	0.0050	0.0099	0.0041	0.0049158	760	154602	rs142458188	0.0048	0.0048	0.0047	0.0048	0.0068	0.0047	0.0046	0.0051	0.0045	0.0007	0.0047	0.0024	2.519e-05	0.0291	0.0068	0.0040	0.0049	0.0040	0.0051	0.0052	0.0039	0.0064	0.0042	0.0048	0.0047	0.0038	0.0036	0.0005	0	0.0039	0.0020	0	0.0358	0.0102	0.0042	0.0071	0.0025	0.519	0.08286	T	0.725	0.05256	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	N	0.117593	0.99542	0.42685	D	-0.805	0.01590	N	2.87	0.10386	T	-0.26	0.12661	N	0.131	0.12627	-0.9673	0.37754	T	0.009	0.03140	T	10	0.0025058389	0.00038	T	.	.	.	0.164	0.42212	.	.	0.223847106136	0.22009	0.1341201395512565	0.13336	0.0755080540532	0.08473	0.349559098482	0.17857	T	0.007928	0.25359	T	-0.706784	0.00033	T	-0.787482	0.02235	T	0.00219053248014786	0.00023	T	0.740726	0.35986	T	0.05279877	0.09900	0.04469123	0.05848	0.05279877	0.09900	0.04469123	0.05847	-2.111	0.04610	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	1.188987	0.15801	12.11	0.90707489596299118	0.19958	0.36718	0.25598	N	AEFGBCI	0.124364	0.24039	N	-0.630456802520704	0.18033	0.9330396	-0.426323289753255	0.24227	1.325572	0.999986064151588	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	3.34	0.37357	0.044000	0.13876	-0.138000	0.11547	0.665000	0.62972	0.181000	0.24076	0.723000	0.26366	0.998000	0.85391	0.0:0.2369:0.0:0.7631	7.595	0.27209	820	0.40914	.;.;.;.	.	.	.	.	rs142458188	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.025862	0.003049	0.003788	0.02632	1319.33	35	chr8	23447844	.	T	C	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.395;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.516;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1362	18	0	1	0
chr8	23529058	23529058	G	C	exonic	SLC25A37	.	nonsynonymous SNV	SLC25A37:NM_016612:exon1:c.G56C:p.G19A	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	.	.	.	0.0027	0.0005	0.0060	0	0	0.0040	0.0142	0.0010	0.0008603	133	154602	rs200459609	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0003	0.0016	0.0099	0	5.994e-05	0.0257	0.0006	0.0019	0.0014	0.0010	0.0010	0.0010	0.0009	0.0021	0.0009	0.0008	0.0015	0.0013	0.0002	0	0.0021	0.0101	0	0	0.0171	0.0009	0.0028	0.0006	0.13	0.26740	T	0.224	0.25591	T	0.734	0.42776	P	0.138	0.33406	B	0.003680	0.34636	N	0.246987	0.962674	0.38304	D	0.805	0.20218	L	-1.01	0.76168	T	-0.6	0.17834	N	0.373	0.41459	-0.7164	0.59639	T	0.255	0.62575	T	10	0.0068131685	0.00155	T	.	.	.	0.318	0.64008	.	.	0.745232050416	0.74294	0.17578501024551194	0.17497	0.936360437383	0.72034	0.768285036087	0.77169	T	0.045788	0.27230	T	-0.265721	0.12238	T	-0.184545	0.56100	T	0.102972446768267	0.12681	T	0.816218	0.47186	T	0.17310637	0.38040	0.27671754	0.53619	0.17310637	0.38040	0.27671754	0.53618	-4.198	0.26722	T	.	.	0.093	0.14201	B	.	.	3.904529	0.56897	23.8	0.98253269564361456	0.39594	0.72977	0.35704	D	ALL	0.554127	0.56510	D	0.0984579257895524	0.46391	2.880142	0.184301842967826	0.48985	3.107453	0.999999999999906	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	3.86	0.43689	5.090000	0.64332	6.436000	0.55643	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1013:0.0:0.8987:0.0	8.922	0.34778	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016700	0.005102	0.014986	0.041176	0.000000	0.017544	0.018519	0.003788	0.02632	889.33	33	chr8	23529058	.	G	C	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.269;DP=707;ExcessHet=0;FS=4.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.451;SOR=1.351	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	18	0	1	0
chr8	23702902	23702902	T	G	exonic	NKX2-6	.	nonsynonymous SNV	NKX2-6:NM_001136271:exon2:c.A455C:p.K152T	Conotruncal heart malformations;Persistent truncus arteriosus	0	1521	1	0	0	1	0.000328623	.	.	YES	1302282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.438853424678	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751396105	1.07e-05	1.094e-05	1.127e-05	1.012e-05	0.0002	6.43e-06	5.1e-06	7.191e-05	4.929e-05	0	0.0002	0	0	0	0	5.554e-06	1.721e-05	2.52e-05	1.314e-05	1.313e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.002746	0.36001	N	0.123256	0.706783	0.33477	D	0.885	0.21608	L	-4.0	0.96339	D	-5.49	0.85765	D	0.289	0.32701	0.406	0.89183	D	0.852	0.95073	D	10	0.5602324	0.64746	D	0.438853	0.94125	D	0.571	0.82573	0.496	0.58520	0.54173910141	0.53827	0.6040524078199315	0.60336	1.45438165439	0.86217	0.688649117947	0.65512	T	0.822504	0.95675	D	0.00238484	0.51984	T	-0.00864902	0.69772	D	0.904201090335846	0.55761	D	0.90421	0.66396	D	0.5348835	0.69108	0.4980513	0.70976	0.5348835	0.69109	0.4980513	0.70977	-11.006	0.79691	D	0.4612133284253029	0.54339	0.534	0.66099	A	.	.	4.408398	0.68175	25.2	0.99663428318346692	0.78074	0.91969	0.54656	D	AEFDBHCI	0.322394	0.42489	N	0.225161905769254	0.52421	3.41636	0.159278619819709	0.47637	2.990849	0.835046073646114	0.24763	0.603402	0.35316	0	0.563428	0.19063	0	0.606814	0.37721	0	0.663205	0.64265	0	.	.	4.35	1.9	0.24770	2.081000	0.41220	2.658000	0.33861	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1852:0.1117:0.0:0.7031	4.134	0.09630	635	0.64580	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	85	chr8	23702902	.	T	G	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.675;DP=1075;ExcessHet=0;FS=4.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.369;SOR=0.448	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1189	18	0	1	0
chr8	24955487	24955487	G	C	exonic	NEFL	.	nonsynonymous SNV	NEFL:NM_006158:exon1:c.C1029G:p.D343E	Charcot-Marie-Tooth disease, type 1F, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, type 2E, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	934233	not_provided|Charcot-Marie-Tooth_disease_type_2E	MedGen:C3661900|MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.534e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs781084022	7.548e-06	7.524e-06	1.229e-05	2.76e-06	8.953e-05	4.05e-06	2.96e-06	2.987e-05	1.806e-05	0	8.953e-05	0	0	0	0	5.402e-06	1.66e-05	0	6.612e-06	6.578e-06	0	1.356e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.989	0.02371	T	0.005	0.12996	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.12627	.	.	.	.	.	.	.	0.2224063	0.38991	T	.	.	.	.	.	.	.	0.807647182049	0.80584	0.39722525498653977	0.39637	.	.	0.62215256691	0.56033	T	0.501137	0.82146	D	-0.200785	0.20691	T	-0.350343	0.39167	T	.	.	.	0.868913	0.58002	D	0.1830093	0.39548	0.39776683	0.64383	0.1830093	0.39547	0.39776683	0.64383	-3.143	0.11797	T	0.046763516088741686	0.00654	0.261	0.49528	B	.;.;.	.;.;.	3.752805	0.53807	23.4	0.94191910211260499	0.24419	0.58699	0.30712	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999957853508	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.091162	0.02695	0	0.96882	0.71182	5.1	5.1	0.68917	1.408000	0.34277	5.769000	0.49731	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0761:0.0:0.7767:0.1473	8.991	0.35183	898	0.25240	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1677.33	100	chr8	24955487	.	G	C	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.785;DP=921;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.334;SOR=0.455	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1691,0,1566	18	0	1	0
chr8	25363056	25363056	A	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon29:c.A2959T:p.M987L	.	427	1093	2	0	0	2	0.000914077	.	.	.	723024	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.244	.	7.7e-05	0.0151757	0.0060	0	0.0002	0.0762	0	0.0004	0.0011	0.0028	0.0054915	849	154602	rs74894413	0.0017	0.0017	0.0017	0.0018	0.0510	0.0017	0.0017	0.0492	0.0484	0	0	0.0033	0.0510	0	0	2.519e-05	0.0023	0.0030	0.0030	0.0031	0.0024	0.0037	0.0779	0.0028	0.0027	0.0716	0.0692	0	0	0.0002	0.0075	0.0779	0	0	1.47e-05	0.0014	0.0058	0.013	0.53900	D	0.071	0.43531	T	0.784	0.44396	P	0.54	0.48825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.91	0.23283	T	-2.6	0.55983	D	0.737	0.73735	-1.1763	0.00427	T	0.005	0.01651	T	10	0.005972892	0.00134	T	.	.	.	0.309	0.63055	0.445	0.50302	0.219573609325	0.21563	0.5247868016643011	0.52402	0.22068252074	0.24616	0.696494698524	0.66638	T	0.227124	0.59233	T	-0.194927	0.21539	T	0.0166431	0.71413	D	0.0830540670650246	0.10373	T	0.911409	0.68582	D	0.62888545	0.74239	0.53419316	0.73084	0.62888545	0.74240	0.53419316	0.73084	-8.286	0.63002	D	.	.	0.543	0.66476	A	.	.	4.279612	0.65178	24.8	0.984454525579044	0.41564	0.99480	0.96546	D	AEFDGBHI	0.936905	0.93390	D	0.554169438728748	0.70335	5.486654	0.617789675148832	0.76233	6.453154	0.999999999890054	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.68	5.68	0.88021	9.290000	0.95109	11.234000	0.90205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.929	0.79431	436	0.80373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1223.33	40	chr8	25363056	.	A	T	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.467;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	18	0	1	0
chr8	25399935	25399935	C	G	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon46:c.C4729G:p.Q1577E	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0059208921435	0.0017	0.000599042	0.0010	0.0003	0.0005	0	0	0.0016	0.0025	0.0005	0.001022	158	154602	rs137938378	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0007	0.0022	0	9.367e-05	0.0003	0.0016	0.0015	0.0003	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0006	0.61	0.05468	T	0.436	0.13480	T	0.013	0.16609	B	0.017	0.18140	B	0.000014	0.62929	N	0.116274	0.996843	0.43455	D	1.805	0.47535	L	3.79	0.03809	T	-0.93	0.24898	N	0.357	0.39861	-1.0420	0.16711	T	0.017	0.06902	T	10	0.012745053	0.00273	T	0.005921	0.15430	T	0.112	0.31546	.	.	0.0986583533028	0.09354	0.22494296244090814	0.22409	0.149559058634	0.16864	0.512403905392	0.40558	T	0.082614	0.36868	T	-0.568644	0.00225	T	-0.595761	0.13170	T	0.0123645188286901	0.00202	T	0.593441	0.21910	T	0.11353909	0.26813	0.158353	0.36984	0.11353909	0.26813	0.158353	0.36983	-3.509	0.16557	T	.	.	0.061	0.01161	B	.	.	2.769413	0.36350	20.2	0.75558948944286453	0.11122	0.87449	0.46992	D	AEFBCI	0.508344	0.53826	D	-0.493233232312582	0.22302	1.189895	-0.311673309310358	0.27721	1.540242	0.995353663552182	0.34082	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.89	4.09	0.47038	1.875000	0.39214	4.853000	0.45395	-0.188000	0.09543	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.7575:0.2425:0.0	16.818	0.85601	540	0.73006	Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	785.33	37	chr8	25399935	.	C	G	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.111;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.279;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	18	0	1	0
chr8	25503407	25503407	G	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon13:c.G1661T:p.G554V,CDCA2:NM_001317907:exon14:c.G1706T:p.G569V,CDCA2:NM_152562:exon14:c.G1706T:p.G569V	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0239209760035	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010608	164	154602	rs115829566	0.0013	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0001	0.0007	0.0023	0	7.488e-05	0.0003	0.0015	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	0.018	0.50676	D	0.011	0.65728	D	0.996	0.68779	D	0.953	0.69275	D	0.084389	0.20699	N	0.412136	0.999986	0.54805	D	2.255	0.64187	M	0.87	0.46412	T	-3.04	0.63090	D	0.269	0.30461	-0.8378	0.52793	T	0.190	0.54093	T	10	0.016102046	0.00339	T	0.023921	0.46899	T	0.153	0.40148	.	.	0.556658385457	0.55325	0.08010030986755487	0.07945	0.3035614747	0.32679	0.325840890408	0.14305	T	0.05044	0.34946	T	-0.481726	0.00723	T	-0.47091	0.25418	T	0.0465393736958504	0.04882	T	0.70183	0.31167	T	0.11039927	0.26095	0.13097735	0.31461	0.11039927	0.26095	0.13097735	0.31460	-3.749	0.20044	T	.	.	0.182	0.45798	B	.;.	.;.	2.708836	0.35399	19.89	0.99243680601872497	0.56630	0.81924	0.41234	D	AEFBI	0.169871	0.29674	N	0.0364013609481738	0.43519	2.643143	-0.0533678695787086	0.37345	2.185339	0.999957355808383	0.48110	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.55	4.63	0.57175	2.725000	0.46964	3.021000	0.36002	-0.244000	0.07312	0.993000	0.37899	0.999000	0.35428	0.914000	0.44937	0.095:0.0:0.905:0.0	11.262	0.48319	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	999.33	36	chr8	25503407	.	G	T	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=692;ExcessHet=0;FS=0.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.433;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr8	25503517	25503517	A	G	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon13:c.A1771G:p.I591V,CDCA2:NM_001317907:exon14:c.A1816G:p.I606V,CDCA2:NM_152562:exon14:c.A1816G:p.I606V	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00254785560755	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010479	162	154602	rs115998499	0.0014	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0015	0.0015	0.0002	0.0007	0.0022	0	7.491e-05	0.0003	0.0016	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.199721	0.03311	N	1.608800	1	0.08975	N	-1.905	0.00237	N	1.18	0.37746	T	0.47	0.03090	N	0.044	0.05037	-1.0225	0.22899	T	0.033	0.13986	T	10	0.004672885	0.00098	T	0.002548	0.05121	T	0.036	0.09122	.	.	0.289098819767	0.28531	0.02791186251505966	0.02741	0.0397410156229	0.04241	0.27766263485	0.07169	T	0.003703	0.03111	T	-0.692334	0.00041	T	-0.773434	0.02657	T	0.000892670442402889	0.00008	T	0.112789	0.00855	T	0.011843495	0.00023	0.016416432	0.00016	0.011843495	0.00023	0.016416432	0.00016	-2.846	0.08615	T	.	.	0.064	0.01738	B	.;.	.;.	-0.787796	0.01131	0.052	0.17266457202521399	0.00496	0.00125	0.00780	N	AEFBI	0.018605	0.00576	N	-1.49845662335819	0.01861	0.08162723	-1.40798299628093	0.03172	0.1474215	0.989583406317112	0.31872	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.36	1.03	0.19161	-0.237000	0.09007	-0.814000	0.07323	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3794:0.0:0.6206:0.0	9.982	0.40992	907	0.22727	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	867.33	36	chr8	25503517	.	A	G	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.649;DP=688;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.798;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr8	25506585	25506585	G	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.G1874C:p.R625P,CDCA2:NM_152562:exon15:c.G1919C:p.R640P	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00327970557933	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010479	162	154602	rs113799371	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0002	0.0007	0.0023	0	7.502e-05	0.0004	0.0015	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.198299	0.16666	N	0.574285	1	0.08975	N	-1.935	0.00224	N	0.88	0.46028	T	1.02	0.01369	N	0.048	0.02964	-0.9796	0.35094	T	0.022	0.09238	T	10	0.00437364	0.00089	T	0.00328	0.07268	T	0.089	0.25827	.	.	0.321108458156	0.31720	0.10603153957989477	0.10533	0.0577496276936	0.06399	0.276592701674	0.07023	T	0.004355	0.03758	T	-0.613774	0.00120	T	-0.660588	0.08227	T	0.00137293360029763	0.00014	T	0.258174	0.04088	T	0.06374824	0.13457	0.0507594	0.08032	0.06374824	0.13456	0.0507594	0.08031	-2.632	0.06750	T	.	.	0.070	0.03736	B	.;.	.;.	0.012034	0.04366	1.122	0.11157384351718043	0.00160	0.00037	0.00318	N	AEFBI	0.016229	0.00353	N	-1.45089322826605	0.02209	0.09730765	-1.31808595172507	0.04197	0.1974325	0.999898120156056	0.45129	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.18	3.36	0.37579	0.027000	0.13512	0.142000	0.15184	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.1712:0.5755:0.165:0.0882	3.780	0.08198	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1613.33	33	chr8	25506585	.	G	C	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=753;ExcessHet=0;FS=15.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=2.13;SOR=0.175	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr8	25506803	25506803	T	A	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.T2092A:p.S698T,CDCA2:NM_152562:exon15:c.T2137A:p.S713T	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0182103531013	0.0015	0.000599042	0.0010	0.0003	0.0004	0	0	0.0014	0.0022	0.0008	0.0010608	164	154602	rs116133624	0.0014	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	0.0007	0.0023	0	7.493e-05	0.0003	0.0016	0.0016	0.0007	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0007	0.0009	0	0	0	0.0015	0.0009	0.0010	0.275	0.16198	T	0.456	0.13030	T	0.447	0.36006	B	0.286	0.40541	B	0.092861	0.20252	N	0.473510	1	0.08975	N	2.005	0.54552	M	0.72	0.50976	T	-0.18	0.09796	N	0.076	0.10198	-1.0374	0.18109	T	0.096	0.36029	T	10	0.0069467425	0.00158	T	0.01821	0.40197	T	0.017	0.02790	.	.	0.386395597597	0.38251	0.07613499557798312	0.07549	0.150520771333	0.16976	0.249263256788	0.03690	T	0.021333	0.18834	T	-0.583657	0.00183	T	-0.617327	0.11396	T	0.0082965080230518	0.00100	T	0.416058	0.10924	T	0.02735436	0.01916	0.027308138	0.00874	0.02735436	0.01916	0.027308138	0.00874	-3.989	0.23639	T	.	.	0.087	0.15832	B	.;.	.;.	-0.056870	0.03906	0.859	0.28510988334868037	0.01467	0.07715	0.13717	N	AEFBI	0.049847	0.08654	N	-0.853245367179916	0.11971	0.580722	-0.926121156902066	0.11479	0.5850135	0.999831168668589	0.43792	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.94	2.52	0.29514	-0.182000	0.09720	-0.826000	0.07275	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2455:0.0:0.7545	5.620	0.16731	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1421.33	33	chr8	25506803	.	T	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.569;DP=771;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=1.29;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr8	26508737	26508737	C	G	exonic	PNMA2	.	nonsynonymous SNV	PNMA2:NM_007257:exon3:c.G19C:p.E7Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00351916886985	.	.	8.474e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs764346444	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.149	0.32568	T	0.536	0.37827	P	0.198	0.36766	B	.	.	.	.	0.950579	0.26500	N	0	0.06538	N	2.84	0.10674	T	-0.1	0.08495	N	0.305	0.34444	-1.0124	0.26165	T	0.018	0.07565	T	9	0.1505807	0.28478	T	0.003519	0.08000	T	0.025	0.05312	0.358	0.36060	0.549036597592	0.54559	0.4686592876139212	0.46784	0.325923819181	0.34745	0.524691104889	0.42287	T	0.008096	0.07453	T	-0.244618	0.14766	T	-0.589153	0.13739	T	0.0905008172038572	0.11278	T	0.278972	0.04839	T	0.05264644	0.09850	0.038133074	0.03616	0.05264644	0.09850	0.038133074	0.03616	-4.683	0.33197	T	.	.	0.109	0.20780	B	.	.	2.427229	0.31222	18.68	0.95606595640851399	0.27352	0.62390	0.31767	D	AEFBI	0.100506	0.20207	N	-0.499180050629534	0.22106	1.178147	-0.466905009514624	0.23072	1.256309	6.31246737125765E-4	0.07505	0.638212	0.43195	0	0.59043	0.45803	0	0.687403	0.62504	0	0.668105	0.65232	0	.	.	3.84	2.97	0.33479	1.579000	0.36145	2.586000	0.33442	-0.176000	0.10722	0.897000	0.31356	0.991000	0.31484	0.052000	0.15357	0.0:0.8823:0.0:0.1177	7.431	0.26298	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1838.33	40	chr8	26508737	.	C	G	1838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=872;ExcessHet=0;FS=2.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=1.23;SOR=0.517	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1270	18	0	1	0
chr8	27290154	27290154	A	G	splicing	TRIM35	NM_171982:exon4:c.785+2T>C	.	.	.	.	.	.	.	.	.	.	0.8869	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0748476	0.61433	D	-0.130263	0.60951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.703599	0.75492	26.3	0.90130095546809885	0.19410	0.96933	0.71736	D	AEFGBI	.	.	.	0.69016396071031	0.78989	6.984	0.501267409523395	0.68077	5.170397	0.999881372110299	0.44867	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.074	0.01840	0	0.327858	0.35627	5.37	4.2	0.48814	4.810000	0.62289	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.818:0.182:0.0:0.0	9.262	0.36779	622	0.65860	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1027.33	43	chr8	27290154	.	A	G	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=739;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.184;SOR=0.872	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1381	18	0	1	0
chr8	27458492	27458492	C	A	exonic	PTK2B	.	nonsynonymous SNV	PTK2B:NM_173175:exon30:c.C2887A:p.H963N,PTK2B:NM_173176:exon31:c.C3013A:p.H1005N,PTK2B:NM_004103:exon32:c.C3013A:p.H1005N,PTK2B:NM_173174:exon36:c.C3013A:p.H1005N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00435777702153	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235987486	5.613e-06	6.84e-06	5.56e-06	5.667e-06	0.0002	2.42e-06	1.75e-06	8.6e-07	5.8e-07	0	0	0	2.641e-05	0	0.0002	3.656e-06	3.39e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.228	0.18434	T	0.353	0.17320	T	0.125	0.26866	B	0.068	0.27651	B	0.004082	0.34125	N	0.334193	0.922585	0.30093	N	0	0.06538	N	1.59	0.28836	T	-0.7	0.19933	N	0.162	0.20660	-1.0728	0.08808	T	0.039	0.16892	T	10	0.0989221	0.17919	T	0.004358	0.10624	T	0.043	0.11576	0.436	0.48828	0.394539259793	0.39067	0.08090050336711432	0.08025	0.344482459952	0.36376	0.288820326328	0.08750	T	0.160388	0.50421	T	-0.234274	0.16086	T	-0.574295	0.15058	T	0.366764065815002	0.27672	T	0.863414	0.55914	D	0.30378056	0.53241	0.124842934	0.30087	0.30378056	0.53241	0.124842934	0.30087	-4.568	0.33319	T	.	.	0.092	0.13503	B	.;.;.;.	.;.;.;.	3.563246	0.50150	22.9	0.94771654502628633	0.25491	0.69678	0.34283	D	AEFDBHCI	0.375169	0.45980	N	-0.133200563278972	0.35952	2.071694	0.0754067322312723	0.43316	2.635854	0.999994260270725	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.653264	0.51672	0	0.616125	0.45549	0	.	.	4.77	4.77	0.60425	4.364000	0.59253	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.992000	0.67800	0.1951:0.8048:0.0:0.0	10.390	0.43350	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	854.33	38	chr8	27458492	.	C	A	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.83;DP=752;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.098;SOR=0.553	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr8	27598557	27598557	T	C	exonic	CLU	.	nonsynonymous SNV	CLU:NM_001831:exon8:c.A1243G:p.I415V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0303049206104	.	.	9.897e-05	0	0.0003	0	0	0	0.0033	0.0004	7.76e-05	12	154602	rs531300634	3.831e-05	3.831e-05	1.225e-05	6.463e-05	0.0006	3.025e-05	2.719e-05	0.0005	0.0004	0	0	0	0	0	0	0	3.312e-05	0.0006	2.628e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.032	0.44694	D	0.051	0.47828	T	0.509	0.37289	P	0.28	0.40294	B	0.000841	0.41547	D	0.275088	0.590847	0.32455	D	2.735	0.79925	M	1.8	0.25344	T	-0.74	0.20791	N	0.188	0.20793	-0.7761	0.56520	T	0.102	0.37819	T	10	0.12227729	0.23193	T	0.030305	0.52646	D	0.092	0.26621	0.724	0.85850	0.148003135375	0.14442	0.2882015863515608	0.28733	0.727830422094	0.62582	0.303063988686	0.10859	T	0.108565	0.42171	T	-0.414127	0.01866	T	-0.465049	0.26050	T	0.25343719124794	0.23026	T	0.80392	0.45144	T	0.03688757	0.04625	0.047672227	0.06919	0.03688757	0.04625	0.047672227	0.06919	-2.39	0.05072	T	.	.	0.119	0.24464	B	.;.;.	.;.;.	2.178248	0.27765	17.57	0.99342401976268513	0.60251	0.86446	0.45728	D	AEFGBCI	0.609596	0.59874	D	0.0738578397450557	0.45244	2.784342	0.0542658926389864	0.42278	2.55445	0.999999999511649	0.74766	0.730579	0.87903	0	0.563428	0.19063	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.4	4.23	0.49319	2.147000	0.41849	1.932000	0.29777	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.15:0.0:0.0:0.85	10.091	0.41620	613	0.66686	Clusterin, C-terminal;Clusterin, C-terminal;Clusterin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	35	chr8	27598557	.	T	C	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.777;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.932;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	18	0	1	0
chr8	27670947	27670947	G	A	exonic	SCARA3	.	nonsynonymous SNV	SCARA3:NM_016240:exon6:c.G1417A:p.V473M	.	415	1091	15	1	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0331255153031	0.0012	0.000599042	0.0019	0.0001	0.0008	0.0001	0.0002	0.0025	0.0023	0.0034	0.0016753	259	154602	rs147324406	0.0013	0.0014	0.0012	0.0014	0.0022	0.0013	0.0013	0.0016	0.0016	9.496e-05	0.0009	0.0335	2.534e-05	0.0002	0.0022	0.0006	0.0029	0.0019	0.0013	0.0013	0.0015	0.0010	0.0010	0.0011	0.0011	0.0008	0.0007	7.213e-05	0	0.0005	0.0325	0	0	0	0.0010	0.0014	0.0008	0.286	0.15201	T	0.313	0.19539	T	0.016	0.17332	B	0.006	0.12133	B	0.633718	0.05827	N	1.165770	1	0.08975	N	1.245	0.31408	L	-3.4	0.94260	D	-0.11	0.08653	N	0.036	0.01068	-0.4275	0.71147	T	0.547	0.83364	D	10	0.005185157	0.00113	T	0.033126	0.54762	D	0.203	0.48915	.	.	0.798076512967	0.79619	0.10774969646574388	0.10703	0.162397982952	0.18320	0.334661066532	0.15637	T	0.208051	0.56787	T	-0.369997	0.03594	T	-0.309799	0.43681	T	0.00504043334217297	0.00054	T	0.667533	0.27667	T	0.08316424	0.19193	0.08295986	0.18974	0.08316424	0.19193	0.08295986	0.18974	-4.213	0.26939	T	.	.	0.090	0.12750	B	.	.	0.452082	0.08223	4.960	0.75929647117673771	0.11266	0.19069	0.20515	N	AEFDBCI	0.110472	0.21906	N	-1.00992305831001	0.08397	0.3935796	-0.979874274801805	0.10237	0.5143351	0.999998101058565	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.644132	0.48003	0	0.711	0.71501	0	.	.	5.61	0.661	0.17044	-3.568000	0.00478	-3.806000	0.02525	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.849000	0.40138	0.4071:0.0:0.4472:0.1457	4.467	0.11114	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.011364	0.02632	1521.33	35	chr8	27670947	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.725;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.803;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr8	27671103	27671103	A	C	exonic	SCARA3	.	nonsynonymous SNV	SCARA3:NM_016240:exon6:c.A1573C:p.K525Q	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	.	.	0.000998403	0.0010	0	0	0.0133	0	0	0	0.0009	0.0005757	89	154602	rs202059796	0.0002	0.0002	0.0002	0.0003	0.0060	0.0002	0.0002	0.0054	0.0052	0	0	0	0.0060	0	0	6.324e-06	0.0002	0.0011	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	0	0	0	0	0.0064	0	0	0	0	0.0014	0.032	0.44694	D	0.032	0.53426	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.91358	0.81001	D	0.775	0.19437	N	-4.05	0.96496	D	-1.13	0.29114	N	0.139	0.13769	0.929	0.96094	D	0.862	0.95394	D	10	0.008758783	0.00198	T	.	.	.	0.513	0.79156	0.372	0.38340	0.956004956884	0.95553	0.3040325885471319	0.30316	0.524533215775	0.50135	0.640898108482	0.58691	T	0.264891	0.63671	T	-0.153981	0.27691	T	0.0120143	0.71113	D	0.0897552697474524	0.11189	T	0.833717	0.50261	T	0.26742607	0.49815	0.17206177	0.39433	0.26742607	0.49814	0.17206177	0.39432	-4.01	0.23953	T	.	.	0.326	0.54933	B	.	.	4.420081	0.68456	25.2	0.99158154236188323	0.54015	0.92139	0.55031	D	AEFDBHCI	0.178504	0.30577	N	0.44049171086612	0.63667	4.604772	0.486603741308547	0.67101	5.039229	0.999999996881062	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	3.076000	0.49779	11.144000	0.87156	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.947	0.63598	512	0.75040	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	35	chr8	27671103	.	A	C	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.355;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.82;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr8	27752572	27752572	C	G	exonic	CCDC25	.	nonsynonymous SNV	CCDC25:NM_001304529:exon5:c.G184C:p.D62H,CCDC25:NM_018246:exon5:c.G184C:p.D62H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.038608744221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.547e-05	0.0001	2.33e-05	2.766e-05	9.022e-05	1.879e-05	1.641e-05	2.391e-05	1.795e-05	9.022e-05	0	3.837e-05	0	0	0	2.899e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	.	.	.	-5.63	0.86836	D	0.853	0.84922	0.028	0.82819	D	0.473	0.79732	T	9	0.8197929	0.81191	D	0.038609	0.58323	D	0.614	0.84932	0.55	0.66576	0.460795861206	0.45704	0.7015162019112378	0.70092	1.51491552847	0.87300	0.722615897655	0.70428	T	0.129824	0.45833	T	0.270073	0.80448	D	0.150165	0.80195	D	0.997151553630829	0.90894	D	0.961604	0.88140	D	0.72886264	0.79660	0.68237287	0.81331	0.72886264	0.79661	0.68237287	0.81332	-10.727	0.78140	D	.	.	0.318	0.54390	B	.;.	.;.	5.579871	0.92292	32	0.9959362337452432	0.73748	0.98767	0.86589	D	AEFGBI	0.922896	0.89857	D	0.859233201530184	0.89628	10.05	0.816114730825622	0.90890	10.61762	0.999999999304192	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.462000	0.79890	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.507	0.84122	793	0.45818	Domain of unknown function DUF814;Domain of unknown function DUF814	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	67.72	34	chr8	27752572	.	C	G	67.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.237;DP=1411;ExcessHet=0;FS=208.951;InbreedingCoeff=-0.0417;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.654;SOR=9.912	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	17	0	1	1
chr8	27776455	27776455	C	G	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon3:c.C147G:p.C49W	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	1	1507	13	1	0	15	0.00495213	.	.	YES	193459	Roberts-SC_phocomelia_syndrome|Roberts_syndrome|not_provided|not_specified	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:CN300934|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.084	.	0.0002	0.00279553	0.0014	0	0.0003	0	0	0.0001	0.0012	0.0092	0.0011513	178	154602	rs201989984	0.0006	0.0006	0.0004	0.0009	0.0080	0.0006	0.0006	0.0075	0.0073	9.034e-05	4.537e-05	0	2.521e-05	0	0.0019	0.0002	0.0007	0.0080	0.0004	0.0004	0.0002	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	0	0	6.538e-05	0	0	0	0.0068	0.0002	0.0024	0.0072	0.007	0.61437	D	0.071	0.43531	T	0.507	0.37264	P	0.174	0.35540	B	0.841769	0.09028	N	0.941127	0.999999	0.08975	N	2.39	0.68882	M	0.83	0.64445	T	-3.03	0.68532	D	0.408	0.44857	-0.8353	0.52956	T	0.263	0.63437	T	10	0.004689455	0.00099	T	.	.	.	0.084	0.24469	.	.	0.53754225682	0.53406	0.1545263751527793	0.15373	0.317716590837	0.34012	0.3224401474	0.13790	T	0.132422	0.46249	T	-0.388318	0.02758	T	-0.324313	0.42100	T	0.10607098408987	0.13013	T	0.665133	0.27420	T	0.09479717	0.22296	0.07956851	0.17924	0.05304735	0.09981	0.09146056	0.21504	-6.254	0.48357	T	.	.	0.232	0.46458	B	.;.;.	.;.;.	1.700277	0.21659	15.29	0.93801362242690578	0.23771	0.05429	0.11302	N	AEFBI	0.209358	0.33535	N	-0.663735954243309	0.17061	0.8747441	-0.814382781374597	0.14147	0.7377214	0.999582803695592	0.40607	0.732398	0.92422	0	0.662677	0.63036	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.52	0.263	0.14858	-0.834000	0.04498	-0.217000	0.10799	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4828:0.0:0.5172	7.642	0.27468	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	3590.33	34	chr8	27776455	.	C	G	3590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.383;DP=923;ExcessHet=0;FS=3.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.59;SOR=0.535	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	27987608	27987608	T	C	exonic	SCARA5	.	nonsynonymous SNV	SCARA5:NM_173833:exon2:c.A8G:p.N3S	.	392	1124	6	0	0	6	0.00266193	.	.	.	2356463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.417	0.320820202439	0.0012	0.000199681	0.0009	0	0.0013	0	0.0005	0.0013	0	0.0002	0.0009508	147	154602	rs141394036	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0010	0.0017	0.0016	0.0002	0.0020	0.0003	0	0.0002	0.0012	0.0012	0.0012	0.0002	0.0010	0.0010	0.0009	0.0011	0.0019	0.0009	0.0008	0.0014	0.0012	0.0002	0	0.0019	0.0009	0	9.416e-05	0	0.0016	0.0019	0	0.085	0.91255	T	0.025	0.92824	D	0.997	0.70673	D	0.97	0.78936	D	0.000000	0.84330	D	0.000000	0.995626	0.42778	D	1.955	0.52871	M	-2.77	0.95728	D	-1.72	0.40850	N	0.371	0.58968	1.004	0.97250	D	0.906	0.96889	D	10	0.053706646	0.05604	T	0.32082	0.91468	D	0.417	0.72705	.	.	0.95874334193	0.95830	0.3587172149195498	0.35785	0.77887452437	0.65170	0.627963781357	0.56856	T	0.083476	0.37062	T	-0.230819	0.16540	T	-0.110499	0.62572	T	0.0483746317279212	0.05211	T	0.937406	0.78426	D	0.16944501	0.37461	0.1966285	0.43402	0.16944501	0.37461	0.1966285	0.43401	-4.836	0.35008	T	.	.	0.149	0.48438	B	.;.;.;.	.;.;.;.	2.901712	0.38459	20.7	0.99479630494477445	0.66795	0.69156	0.34077	D	AEFDGBCI	0.612250	0.60039	D	0.507181348469424	0.67512	5.091728	0.444463696761855	0.64363	4.689637	0.99999989655611	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	1.943000	0.39880	6.168000	0.54445	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.0:1.0	13.476	0.60759	746	0.52331	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	727.33	38	chr8	27987608	.	T	C	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=698;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.992;SOR=1.214	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	18	0	1	0
chr8	28029334	28029334	G	A	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon17:c.C2086T:p.R696W	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0008	0.00279553	0.0027	0.0005	0.0054	0	0.0029	0.0015	0.0096	0.0084	0.0020828	322	154602	rs200971147	0.0015	0.0015	0.0013	0.0017	0.0081	0.0015	0.0015	0.0076	0.0074	0.0001	0.0033	0.0009	2.526e-05	0.0032	0.0059	0.0010	0.0016	0.0081	0.0015	0.0015	0.0014	0.0016	0.0084	0.0013	0.0013	0.0063	0.0056	0.0001	0	0.0021	0.0035	0	0.0038	0	0.0014	0.0014	0.0084	0.017	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.609	0.51053	P	0.083098	0.20772	N	0.476548	0.530492	0.31495	N	2.19	0.61577	M	2.35	0.16217	T	-2.86	0.60188	D	0.49	0.52386	-1.0457	0.15621	T	0.040	0.17191	T	10	0.0072264373	0.00164	T	.	.	.	0.112	0.31546	.	.	0.59589940523	0.59269	0.236100240792046	0.23525	0.366078253809	0.38189	0.307676851749	0.11556	T	0.070758	0.34041	T	-0.45371	0.01074	T	-0.419654	0.31115	T	0.0311100688441246	0.02164	T	0.511749	0.16382	T	0.07774786	0.17664	0.09231025	0.21749	0.07774786	0.17664	0.09231025	0.21748	-6.549	0.50663	T	.	.	0.116	0.23325	B	.	.	4.735803	0.76327	26.5	0.99921708139172249	0.98787	0.55350	0.29842	D	AEFDBI	0.459069	0.50983	N	0.281884511151786	0.55230	3.687214	0.298831216429642	0.55472	3.710143	0.50181484471757	0.20949	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	3.53	0.39533	2.535000	0.45343	4.778000	0.44817	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.993000	0.69303	0.0:0.1587:0.593:0.2483	7.050	0.24244	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1446.33	47	chr8	28029334	.	G	A	1446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.914;DP=776;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.034;SOR=0.656	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr8	28463730	28463730	C	T	exonic	FBXO16	.	nonsynonymous SNV	FBXO16:NM_001258211:exon3:c.G188A:p.R63Q,FBXO16:NM_172366:exon4:c.G224A:p.R75Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0032	0.00798722	0.0053	0.0007	0.0036	0.0292	0.0011	0.0035	0.0055	0.0056	0.0051099	790	154602	rs3735726	0.0048	0.0048	0.0048	0.0048	0.0310	0.0047	0.0047	0.0296	0.0290	0.0007	0.0041	0.0036	0.0310	0.0009	0.0023	0.0042	0.0048	0.0048	0.0037	0.0037	0.0038	0.0036	0.0270	0.0035	0.0034	0.0233	0.0219	0.0010	0	0.0040	0.0035	0.0270	0.0004	0.0034	0.0041	0.0043	0.0039	0.491	0.12032	T	0.49	0.12740	T	0.029	0.19866	B	0.003	0.08700	B	0.611412	0.10863	N	0.750729	0.999665	0.20745	N	0.805	0.20218	L	2.56	0.39990	T	-0.4	0.13805	N	0.151	0.19728	-1.0448	0.15884	T	0.026	0.11220	T	10	0.0026821792	0.00041	T	.	.	.	0.032	0.07718	.	.	0.255777322467	0.25185	0.08502330320680847	0.08436	0.0471141811343	0.05133	0.286356389523	0.08394	T	6.16E-4	0.00258	T	-0.611572	0.00124	T	-0.62826	0.10546	T	0.00453315636866865	0.00048	T	0.813419	0.47426	T	0.033555724	0.03597	0.04583415	0.06253	0.033555724	0.03597	0.04583415	0.06253	-7.056	0.54442	T	.	.	0.063	0.02428	B	.;.;.;.	.;.;.;.	1.784550	0.22686	15.72	0.95745011269057601	0.27708	0.38332	0.25964	N	AEFBI	0.124008	0.23987	N	-0.751000629622611	0.14605	0.728991	-0.552886777216525	0.20729	1.118162	0.227983699836338	0.18432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.63	2.88	0.32617	-0.123000	0.10586	-0.496000	0.08830	-0.259000	0.06933	0.253000	0.24879	0.000000	0.08366	0.948000	0.49324	0.0:0.685:0.0:0.315	9.094	0.35789	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.020202	0.000000	0.002959	0.000000	0.000000	0.006135	0.000000	0.02632	3129.33	33	chr8	28463730	.	C	T	3129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.329;DP=880;ExcessHet=0;FS=3.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.6;SOR=0.949	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	28527847	28527847	G	T	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.G1087T:p.V363F,FZD3:NM_017412:exon5:c.G1087T:p.V363F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856	0.192233812332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.97	0.72226	D	0.000005	0.62929	D	0.060513	0.999998	0.58761	D	3.005	0.85968	M	-2.39	0.88377	D	-4.29	0.76414	D	0.914	0.91621	0.970	0.96707	D	0.864	0.95482	D	10	0.95573425	0.94935	D	0.192234	0.86232	D	0.856	0.95581	0.806	0.92372	0.981310105081	0.98110	0.9855046504370252	0.98543	1.57217358047	0.88212	0.838374853134	0.87847	D	0.928702	0.98778	D	0.394961	0.89621	D	0.329558	0.89491	D	0.995544016361237	0.87620	D	0.988801	0.96179	D	0.8668001	0.88610	0.7476123	0.85082	0.8668001	0.88612	0.7476123	0.85083	-12.132	0.85488	D	.	.	0.910	0.83497	P	.;.	.;.	4.882442	0.80089	27.2	0.99536052843095268	0.70212	0.96430	0.69100	D	AEFGBI	0.693207	0.65261	D	0.84786619529783	0.88986	9.789655	0.766880888449214	0.87413	9.213232	0.998866385407407	0.37845	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	4.218000	0.58351	11.906000	0.99484	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.079	0.86470	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	250.71	133	chr8	28527847	.	G	T	250.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.159;DP=1472;ExcessHet=0;FS=202.726;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.65;SOR=7.053	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	17	0	1	1
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	972.6	108	chr8	28527857	.	A	C	972.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.292;DP=1867;ExcessHet=1.3;FS=283.872;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=2.46;SOR=11.075	GT:AD:DP:GQ:PL	0/1:136,42:178:99:169,0,3157	10	0	5	4
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,20:81:81:.:.:81,0,1163:.	7	0	11	1
chr8	29071857	29071857	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon39:c.C4981T:p.R1661C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.18793310587	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755491671	2.888e-06	8.893e-06	2.851e-06	2.926e-06	5.651e-05	6.8e-07	4.6e-07	9.36e-06	3.5e-06	0	5.651e-05	0	0	0	0	9.277e-07	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34982	T	0.044	0.49663	D	.	.	.	.	.	.	0.052081	0.22924	N	0.428844	1	0.08975	N	0.445	0.12748	N	-1.09	0.80899	T	-1.68	0.53736	N	0.043	0.01577	-0.8600	0.51263	T	0.238	0.60523	T	10	0.10710707	0.19879	T	0.187933	0.85970	D	0.072	0.21020	.	.	0.727415007108	0.72499	0.5293697743916211	0.52860	0.310624192691	0.33376	0.532702803612	0.43415	T	0.066717	0.33016	T	-0.213025	0.18955	T	-0.415994	0.31534	T	0.176228694363256	0.18994	T	0.864214	0.56927	D	0.06390707	0.13507	0.045026235	0.05968	0.06390707	0.13506	0.045026235	0.05967	-4.671	0.33051	T	.	.	0.117	0.33913	B	.;.	.;.	1.501079	0.19296	14.19	0.9923771145303365	0.56437	0.16779	0.19545	N	AEFDBI	0.169066	0.29587	N	-0.778769933597443	0.13863	0.6861571	-0.735259226817844	0.16085	0.8492402	0.998425040870734	0.36942	0.651	0.46895	0	0.708844	0.79440	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	5.14	1.92	0.24912	0.305000	0.19006	-0.306000	0.10077	0.588000	0.31329	0.012000	0.18695	0.000000	0.08366	0.177000	0.21203	0.167:0.1217:0.5401:0.1712	2.685	0.04789	643	0.63827	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	867.33	32	chr8	29071857	.	G	A	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=1.69;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	18	0	1	0
chr8	29099198	29099198	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon36:c.C4259T:p.S1420F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.109871680792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.022	0.57587	D	.	.	.	.	.	.	0.184518	0.17013	N	0.603497	0.999941	0.81001	D	1.74	0.45129	L	-1.19	0.83578	T	-1.58	0.38151	N	0.445	0.48319	0.106	0.84276	D	0.559	0.83947	D	10	0.725751	0.73961	D	0.109872	0.78703	D	0.604	0.84398	0.433	0.48336	0.914687422619	0.91382	0.40732106200124585	0.40648	0.80672074353	0.66509	0.465060651302	0.34003	T	0.106451	0.41780	T	0.235812	0.77267	D	0.100951	0.76971	D	0.907219529151917	0.56144	D	0.845915	0.54691	T	0.09905698	0.23373	0.08519688	0.19655	0.09905698	0.23372	0.08519688	0.19654	-5.417	0.41083	T	.	.	0.108	0.46551	B	.;.	.;.	3.708111	0.52926	23.3	0.99709867231401594	0.81283	0.97739	0.76783	D	AEFI	0.547661	0.56127	D	0.54364048066218	0.69695	5.393751	0.53822504182888	0.70582	5.526473	0.859008897815135	0.25189	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	5.315000	0.65594	9.787000	0.81627	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0772:0.0:0.9228:0.0	12.505	0.55319	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	434.33	33	chr8	29099198	.	G	A	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=677;ExcessHet=0;FS=10.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.108;SOR=1.967	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr8	30069842	30069842	G	A	exonic	SARAF	.	nonsynonymous SNV	SARAF:NM_016127:exon3:c.C500T:p.S167L	.	436	1084	2	0	0	2	0.000921659	.	.	.	2348284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.0142140845837	0.0004	.	0.0001	0.0009	0	0	0	1.499e-05	0	0.0004	0.00011	17	154602	rs200944113	6.43e-05	6.43e-05	5.989e-05	6.875e-05	0.0011	5.361e-05	4.976e-05	0.0008	0.0007	0.0011	8.944e-05	0	0.0002	0	0	2.068e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.537e-05	0	0.0002	0	0	0	0	0	0.009	0.57480	D	0.293	0.20811	T	0.816	0.45573	P	0.265	0.39681	B	0.333456	0.14077	N	0.707145	0.922881	0.81001	D	2.91	0.84121	M	0.88	0.46028	T	-3.09	0.64478	D	0.445	0.48319	-0.9418	0.42330	T	0.134	0.44778	T	10	0.088082016	0.15134	T	0.014214	0.34172	T	0.234	0.53644	.	.	0.573817624435	0.57049	0.42994227209895053	0.42911	0.243943641455	0.26902	0.392231583595	0.23984	T	0.23	0.59595	T	-0.241047	0.15215	T	-0.211759	0.53528	T	0.113346316612449	0.13767	T	0.625537	0.24975	T	0.1407594	0.32462	0.19270387	0.42800	0.1407594	0.32461	0.19270387	0.42799	-6.216	0.48053	T	.	.	0.091	0.16886	B	.;.;.	.;.;.	3.295568	0.45215	22.1	0.99542782398253693	0.70586	0.57276	0.30334	D	AEFBI	0.378967	0.46217	N	-0.0198237719009298	0.40959	2.441512	-0.0978432354458153	0.35479	2.053144	0.999732825897529	0.42341	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.81	0.61401	2.607000	0.45964	8.028000	0.76260	0.618000	0.50648	0.075000	0.22209	1.000000	0.68203	0.153000	0.20410	0.0846:0.0:0.9154:0.0	11.684	0.50739	817	0.41665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	45	chr8	30069842	.	G	A	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.566;SOR=0.713	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1400	18	0	1	0
chr8	30132674	30132674	A	C	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon3:c.T577G:p.S193A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00339457	0.0043	0	0	0	0	0.0001	0.0041	0.0115	0.0007827	121	154602	rs538616586	0.0008	0.0007	0.0004	0.0011	0.0120	0.0007	0.0007	0.0114	0.0111	0.0002	0	0	2.798e-05	0	0.0009	3.615e-05	0.0013	0.0120	0.0005	0.0005	0.0002	0.0008	0.0153	0.0004	0.0004	0.0125	0.0115	7.224e-05	0	0	0	0	0	0	1.471e-05	0	0.0153	0.897	0.02442	T	0.875	0.03268	T	0.005	0.12996	B	0.02	0.19048	B	0.258217	0.03691	N	1.577990	1	0.08975	N	1.955	0.52871	M	1.94	0.22678	T	-0.51	0.15986	N	0.158	0.16447	-1.0144	0.25529	T	0.033	0.14073	T	9	0.003267616	0.00056	T	.	.	.	0.017	0.02790	0.324	0.30549	0.188950314367	0.18478	0.05101357154725807	0.05043	.	.	0.281659781933	0.07725	T	0.054534	0.29751	T	-0.597046	0.00152	T	-0.620004	0.11185	T	0.0249853202165121	0.01270	T	0.340266	0.07351	T	0.05594672	0.10942	0.04299905	0.05251	0.05594672	0.10941	0.04299905	0.05251	-3.832	0.21283	T	.	.	0.075	0.05711	B	.	.	0.159367	0.05500	1.966	0.51044059095600203	0.04492	0.01348	0.04627	N	AEFGBI	.	.	.	-1.18484081523987	0.05229	0.2378822	-1.31569882944999	0.04227	0.1989352	0.999979524532476	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.87	-8.04	0.00980	-0.067000	0.11538	-0.652000	0.08023	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.3368:0.205:0.3572:0.1009	2.998	0.05639	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	40	chr8	30132674	.	A	C	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=851;ExcessHet=0;FS=3.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.558;SOR=1.015	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T	.	399	1115	7	1	0	9	0.00401965	.	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007128	0.006250	0.008403	0.000000	0.000000	0.000000	0.005263	0.000000	0.02632	1758.33	124	chr8	30138668	.	C	T	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1824;ExcessHet=0;FS=3.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-1.263;SOR=0.405	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr8	30681011	30681011	C	T	exonic	GSR	.	nonsynonymous SNV	GSR:NM_001195104:exon10:c.G1066A:p.E356K,GSR:NM_001195102:exon11:c.G1225A:p.E409K,GSR:NM_001195103:exon11:c.G1153A:p.E385K,GSR:NM_000637:exon12:c.G1312A:p.E438K	Hemolytic anemia due to glutathione reductase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0358469335471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.039	0.48186	D	0.077	0.42436	T	0.061	0.23190	B	0.04	0.23831	B	0.001207	0.39820	N	0.287114	0.999977	0.53665	D	2.355	0.67662	M	-0.34	0.72889	T	-3.06	0.64939	D	0.346	0.43223	-0.5129	0.68180	T	0.317	0.68629	T	10	0.34616682	0.51577	T	0.035847	0.56612	D	0.267	0.58126	0.569	0.69167	0.864308929446	0.86298	0.7738270225318636	0.77332	0.337717379033	0.35759	0.489353060722	0.37348	T	0.672781	0.90306	D	0.0275011	0.55389	T	-0.198273	0.54810	T	0.92883312702179	0.59253	D	0.961204	0.85511	D	0.33999324	0.56279	0.23468839	0.48692	0.33999324	0.56279	0.23468839	0.48691	-8.036	0.64290	D	.	.	0.108	0.20391	B	.;.;.;.	.;.;.;.	3.118213	0.42087	21.5	0.9980270108166025	0.88728	0.95664	0.65634	D	AEFBI	0.456556	0.50837	N	-2.09880683979119e-05	0.41855	2.511031	0.110937214591921	0.45107	2.779823	0.999999970555951	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	3.545000	0.53401	4.730000	0.44549	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	16.341	0.82913	464	0.78488	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1129.33	34	chr8	30681011	.	C	T	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=736;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.243;SOR=0.961	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1442	18	0	1	0
chr8	30837446	30837446	A	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon10:c.T8838G:p.I2946M	.	426	1084	12	0	0	12	0.00550459	.	.	.	706475	Spermatogenic_failure_25|not_provided	MONDO:MONDO:0054729,MedGen:C4693765,OMIM:617960|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	.	0.0006	0.00379393	0.0032	9.658e-05	0.0205	0.0001	0.0011	0.0011	0.0033	0.0038	0.0030336	469	154602	rs145215857	0.0015	0.0015	0.0014	0.0016	0.0172	0.0015	0.0014	0.0162	0.0158	0.0004	0.0172	0.0027	7.559e-05	0.0010	0.0023	0.0007	0.0016	0.0044	0.0023	0.0023	0.0020	0.0026	0.0154	0.0021	0.0020	0.0138	0.0132	0.0003	0	0.0154	0.0009	0.0006	0.0008	0.0068	0.0010	0.0014	0.0037	0.027	0.46513	D	0.097	0.39190	T	0.899	0.49514	P	0.729	0.55225	P	0.938055	0.08373	N	0.967667	1	0.08975	N	0.895	0.22405	L	2.61	0.13095	T	-0.94	0.25118	N	0.276	0.31253	-1.0297	0.20551	T	0.023	0.09832	T	10	0.005690396	0.00126	T	.	.	.	0.057	0.16321	.	.	0.193865811164	0.18958	0.041363890965025345	0.04081	0.130758939133	0.14752	0.390586495399	0.23752	T	0.075347	0.35156	T	-0.587065	0.00175	T	-0.601118	0.12718	T	0.045457989632063	0.04686	T	0.518348	0.16810	T	0.06517606	0.13902	0.06354929	0.12606	0.06005748	0.12279	0.066391885	0.13591	-4.493	0.30797	T	.	.	0.117	0.23814	B	.;.;.	.;.;.	2.186792	0.27882	17.61	0.99114415744400008	0.52828	0.21035	0.21258	N	AEFBI	0.099312	0.19995	N	-0.305901934390306	0.28922	1.599464	-0.439227757006416	0.23855	1.303162	0.00237497887188054	0.09366	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.17	0.065	0.13669	1.098000	0.30612	1.754000	0.28498	0.756000	0.94297	0.770000	0.29357	0.775000	0.26732	0.032000	0.13371	0.4866:0.1705:0.1792:0.1638	0.748	0.00923	744	0.52588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2596.33	35	chr8	30837446	.	A	C	2596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=838;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.19;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P	.	388	1119	14	1	0	16	0.00709849	.	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5871.79	39	chr8	31639995	.	G	C	5871.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1098;ExcessHet=0.3672;FS=1.144;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.728;SOR=0.795	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1390	16	0	3	0
chr8	32648096	32648096	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_001322205:exon1:c.G379C:p.A127P,NRG1:NM_001322206:exon1:c.G379C:p.A127P,NRG1:NM_001322207:exon1:c.G379C:p.A127P,NRG1:NM_013959:exon1:c.G379C:p.A127P	.	423	1082	17	0	0	17	0.00779459	.	.	.	2821013	not_provided|NRG1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	.	0.0065	0.00379393	0.0089	0.0016	0.0078	0.0001	0.0207	0.0120	0.0099	0.0017	0.0084669	1309	154602	rs34822181	0.0094	0.0094	0.0096	0.0092	0.0284	0.0093	0.0092	0.0249	0.0235	0.0023	0.0066	0.0188	5.038e-05	0.0217	0.0284	0.0097	0.0099	0.0017	0.0077	0.0078	0.0074	0.0081	0.0096	0.0074	0.0072	0.0090	0.0087	0.0018	0.0044	0.0082	0.0228	0	0.0207	0.0238	0.0096	0.0052	0.0017	1.0	0.00964	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	2.04	0.00388	N	0.111	0.09772	-1.0376	0.18048	T	0.025	0.10509	T	8	0.0026865602	0.00042	T	.	.	.	0.053	0.14996	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.647496	0.00075	T	-0.693465	0.06191	T	0.00457160426788345	0.00049	T	0.316668	0.06305	T	.	.	.	.	.	.	.	.	-1.28	0.01369	T	.	.	0.044	0.00041	B	.;.	.;.	0.932004	0.13072	9.576	0.28607155869127171	0.01477	0.11647	0.16771	N	AEFBCI	0.067459	0.13263	N	-0.948612163328557	0.09723	0.4614725	-0.664915912530842	0.17841	0.9504233	0.999979493113776	0.50053	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.444512	0.06955	0	.	.	6.07	4.27	0.50009	1.347000	0.33580	0.431000	0.18324	-0.819000	0.02980	1.000000	0.71638	0.987000	0.30940	0.883000	0.42306	0.0:0.6824:0.2517:0.066	10.477	0.43856	703	0.57489	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.035354	0.024457	0.078947	0.000000	0.025862	0.012195	0.011364	0.02632	2489.33	33	chr8	32648096	.	G	C	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=845;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.319;SOR=0.852	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	18	0	1	0
chr8	35722227	35722227	G	A	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon9:c.G1120A:p.D374N,UNC5D:NM_080872:exon9:c.G1135A:p.D379N	.	430	1090	2	0	0	2	0.00091659	.	.	.	3345052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0349634579822	.	.	0.0002	0	0.0003	0	0.0002	0.0001	0	0.0004	0.0001488	23	154602	rs770644786	8.759e-05	8.824e-05	7.898e-05	9.628e-05	0.0018	7.49e-05	7.037e-05	0.0010	0.0007	5.977e-05	6.716e-05	0.0007	0	9.363e-05	0.0018	4.677e-05	0.0002	0.0003	9.2e-05	9.194e-05	7.708e-05	0.0001	0.0006	5.528e-05	4.365e-05	0.0002	8.989e-05	4.828e-05	0	6.542e-05	0.0003	0	0	0	7.349e-05	0.0010	0.0006	0.013	0.53900	D	0.05	0.50809	T	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.505	0.72935	M	0.42	0.57419	T	-4.34	0.76822	D	0.784	0.83885	-0.3454	0.73687	T	0.361	0.72262	T	10	0.6580844	0.69992	D	0.034963	0.56032	D	0.404	0.71714	.	.	0.708872499182	0.70633	0.7930001997075418	0.79253	1.2521105706	0.81831	0.801438808441	0.82182	T	0.308892	0.68095	T	-0.276561	0.11036	T	-0.342889	0.40017	T	0.584919691085815	0.35808	D	0.971203	0.89831	D	0.48315507	0.66091	0.38906974	0.63735	0.48315507	0.66092	0.38906974	0.63735	-7.407	0.56954	T	.	.	0.153	0.40586	B	.;.;.;.;.	.;.;.;.;.	5.156602	0.86392	28.9	0.99920306908844969	0.98721	0.98811	0.87162	D	AEFBI	0.923796	0.90083	D	0.906449050047711	0.92073	11.21796	0.895754984200628	0.95385	13.572	0.999999999998282	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.597000	0.97445	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.443	0.94819	606	0.67383	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	35	chr8	35722227	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=723;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.452;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1301	18	0	1	0
chr8	36833658	36833658	C	T	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon11:c.C1211T:p.A404V	.	436	1085	1	0	0	1	0.000460617	0.0005	0.046	.	2761481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0844859794775	8.3e-05	0.000399361	0.0006	0.0003	8.777e-05	0	0.0005	0.0004	0	0.0019	0.0004592	71	154602	rs189044708	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0.0002	0.0001	0	0	0.0008	0.0002	0.0002	0.0004	0.0019	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0009	0	0	0.0007	0	0.0004	0	0.0017	0.005	0.63226	D	0.027	0.55341	D	0.462	0.36386	P	0.035	0.22741	B	0.344552	0.13911	U	0.509402	0.881969	0.28033	N	2.44	0.70756	M	-0.46	0.70014	T	-1.81	0.42575	N	0.083	0.05929	-0.8040	0.54909	T	0.188	0.53812	T	10	0.02640742	0.00808	T	0.084486	0.74337	D	0.150	0.39571	.	.	0.613025245597	0.60990	0.3458766754838928	0.34501	0.023310643868	0.02366	0.38961777091	0.23616	T	0.193757	0.54932	T	-0.43051	0.01472	T	-0.404405	0.32872	T	0.0311967996687215	0.02177	T	0.711029	0.32195	T	0.11596821	0.27358	0.08475717	0.19520	0.11596821	0.27358	0.08475717	0.19519	-8.715	0.65844	D	.	.	0.224	0.45581	B	.	.	2.978347	0.39716	21.0	0.99261518873142762	0.57222	0.77717	0.38245	D	AEFI	0.175856	0.30305	N	-0.344220752918873	0.27485	1.508327	-0.29815454945013	0.28159	1.567869	6.90509386661164E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	3.51	0.39297	0.587000	0.23611	1.802000	0.28890	-1.030000	0.01696	0.998000	0.41325	1.000000	0.68203	0.111000	0.18785	0.1424:0.5022:0.2767:0.0786	4.734	0.12355	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1914.33	34	chr8	36833658	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.832;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1267	18	0	1	0
chr8	36845602	36845602	C	A	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon17:c.C1726A:p.P576T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2821020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00771396651818	0.0052	0.000599042	0.0039	0.0013	0.0006	0	0.0049	0.0057	0.0022	0.0020	0.0038033	588	154602	rs61744028	0.0055	0.0057	0.0056	0.0055	0.0065	0.0054	0.0054	0.0063	0.0063	0.0008	0.0009	0.0026	0	0.0056	0.0003	0.0065	0.0057	0.0018	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0064	0.0062	0.0011	0	0.0014	0.0020	0	0.0037	0	0.0070	0.0028	0.0014	0.206	0.19927	T	0.539	0.09795	T	0.005	0.12996	B	0.004	0.10090	B	0.386416	0.13317	U	0.525022	0.999645	0.20796	N	1.2	0.30300	L	1.5	0.31205	T	-0.74	0.20791	N	0.168	0.17828	-1.0939	0.04914	T	0.043	0.18659	T	10	0.0057611465	0.00128	T	0.007714	0.20457	T	0.022	0.04323	.	.	0.18995819373	0.18626	0.20986701229392576	0.20902	0.023581478568	0.02391	0.245560258627	0.03315	T	0.085759	0.37574	T	-0.606679	0.00133	T	-0.639523	0.09704	T	0.00017556107292076	0.00001	T	0.50475	0.15921	T	0.054020192	0.10307	0.03817296	0.03628	0.054020192	0.10306	0.03817296	0.03628	-6.452	0.49914	T	.	.	0.088	0.11558	B	.	.	-0.204050	0.03070	0.479	0.82144141032705553	0.14041	0.08881	0.14742	N	AEFI	0.054166	0.09825	N	-0.821215385400882	0.12768	0.6245524	-0.783944031127528	0.14888	0.7802858	1.39099893261654E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	1.29	0.20717	-0.527000	0.06287	1.444000	0.26551	-0.111000	0.15049	0.002000	0.15269	0.015000	0.20450	0.059000	0.15899	0.0:0.325:0.3057:0.3693	8.502	0.32324	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1317.33	34	chr8	36845602	.	C	A	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.829;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.125;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	18	0	1	0
chr8	37697800	37697800	A	G	exonic	ZNF703	.	nonsynonymous SNV	ZNF703:NM_025069:exon2:c.A899G:p.K300R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2348239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.50715003842	.	0.000399361	0.0007	0	0	0	0	0.0004	0	0.0009	0.0003363	52	154602	rs201791294	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0010	0.0009	3.262e-05	0.0003	0	0	0.0094	0	0.0006	0.0006	0.0012	0.0011	0.0011	0.0007	0.0014	0.0010	0.0009	0.0009	0.0008	0.0008	9.634e-05	0	0.0001	0	0.0002	0.0076	0	0.0010	0.0005	0.0006	0.07	0.35349	T	0.197	0.27855	T	0.945	0.53279	P	0.473	0.46845	P	0.000000	0.84330	D	0.000000	0.999698	0.48338	D	1.865	0.49290	L	0.6	0.53731	T	-1.63	0.39119	N	0.309	0.34874	-0.9478	0.41347	T	0.152	0.48049	T	10	0.008105904	0.00184	T	0.50715	0.95244	D	0.114	0.32008	0.178	0.08503	0.559773648941	0.55639	0.64010401207246	0.63945	.	.	0.930558383465	0.99019	D	0.091588	0.38827	T	-0.444806	0.01212	T	-0.418186	0.31283	T	0.0478095508842722	0.05110	T	0.970203	0.89274	D	0.15552765	0.35147	0.21442416	0.45992	0.15552765	0.35147	0.21442416	0.45991	-5.846	0.44973	T	.	.	0.137	0.29914	B	.	.	3.487223	0.48728	22.7	0.99683847862264729	0.79440	0.79112	0.39141	D	AEFDBHCIJ	0.658513	0.62976	D	0.153765772175526	0.48989	3.104572	0.122371936331087	0.45695	2.828155	0.999999997238388	0.74766	0.493124	0.18060	0	0.563428	0.19063	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.35	3.17	0.35510	3.302000	0.51557	10.902000	0.84143	0.626000	0.51810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8461:0.0:0.0:0.1539	9.834	0.40129	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	39	chr8	37697800	.	A	G	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.383;DP=728;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.832;SOR=0.962	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1413	18	0	1	0
chr8	37698489	37698489	G	A	exonic	ZNF703	.	nonsynonymous SNV	ZNF703:NM_025069:exon2:c.G1588A:p.G530R	.	334	1187	1	0	0	1	0.000421053	.	.	.	2352235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.363753692653	.	.	2.374e-05	0	0	0	0	4.548e-05	0	0	6.5e-06	1	154602	rs752257063	2.545e-05	2.599e-05	2.024e-05	3.072e-05	6.002e-05	1.848e-05	1.635e-05	2.073e-05	1.806e-05	0	6.002e-05	0	0	0	0	2.893e-05	0	2.587e-05	4.642e-05	4.623e-05	2.591e-05	6.791e-05	0.0002	2.127e-05	1.538e-05	2.855e-05	1.864e-05	2.434e-05	0	0	0	0	0	0	7.379e-05	0	0.0002	0.003	0.68238	D	0.013	0.63109	D	0.268	0.31720	B	0.037	0.23121	B	0.000055	0.53742	D	0.124830	0.980643	0.39689	D	2.215	0.62545	M	0.89	0.45636	T	-4.53	0.78388	D	0.231	0.25989	-1.0557	0.12855	T	0.080	0.31824	T	10	0.19966716	0.35983	T	0.363754	0.92576	D	0.080	0.23350	0.138	0.04187	0.61879682266	0.61571	0.6461081968694968	0.64545	.	.	0.889600634575	0.95211	D	0.206052	0.56528	T	-0.261418	0.12734	T	-0.503227	0.22014	T	0.875146925449371	0.52501	D	0.994401	0.98139	D	0.4671484	0.65115	0.48599988	0.70250	0.4671484	0.65115	0.48599988	0.70251	-12.353	0.86528	D	.	.	0.859	0.80227	P	.	.	5.400418	0.90437	31	0.99689912378312928	0.79842	0.77807	0.38300	D	AEFDBHCIJ	0.335340	0.43381	N	-0.17774271998666	0.34064	1.939766	-0.090368975738823	0.35788	2.074644	0.999999870446047	0.74766	0.651	0.46895	0	0.627178	0.54094	0	0.503968	0.08637	0	0.683762	0.67416	0	.	.	3.7	2.81	0.31971	5.184000	0.64908	11.541000	0.93133	0.507000	0.23093	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0903:0.0:0.9097:0.0	11.439	0.49332	680	0.59965	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1957.33	39	chr8	37698489	.	G	A	1957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=816;ExcessHet=0;FS=1.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.566;SOR=0.591	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1413	18	0	1	0
chr8	37841925	37841925	G	A	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon19:c.G3587A:p.C1196Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0201677	0.0032	0	0	0.0976	0	0.0004	0.0169	0.0008	0.0026455	409	154602	rs75336000	0.0016	0.0017	0.0016	0.0016	0.0504	0.0015	0.0015	0.0485	0.0477	6.786e-05	0.0001	0.0016	0.0504	0	0.0004	2.326e-05	0.0049	0.0014	0.0029	0.0029	0.0029	0.0030	0.0751	0.0027	0.0026	0.0689	0.0665	0.0003	0	0.0011	0.0012	0.0751	0	0	0	0.0038	0.0033	0.077	0.43393	T	0.068	0.44106	T	0.101	0.25775	B	0.086	0.29521	B	0.146085	0.18124	N	0.559838	1	0.08975	N	.	.	.	0.41	0.57100	T	-0.88	0.23808	N	0.155	0.16028	-1.0315	0.19970	T	0.074	0.30023	T	10	0.0017756224	0.00023	T	.	.	.	0.021	0.04004	0.175	0.08135	0.18995819373	0.18626	0.19438956763716564	0.19356	2.29754585724	0.96441	0.785690784454	0.79788	T	0.13111	0.46041	T	-0.56304	0.00243	T	-0.519856	0.20309	T	0.0196590323333357	0.00669	T	0.472753	0.14261	T	0.08107291	0.18609	0.09519612	0.22567	0.08107291	0.18609	0.09519612	0.22566	-4.026	0.24192	T	.	.	0.147	0.32348	B	.;.	.;.	1.059822	0.14413	10.99	0.95540882678186545	0.27187	0.75614	0.37031	D	AEFDBHCIJ	0.268057	0.38463	N	-0.767464184627936	0.14164	0.7033284	-0.71833697012916	0.16504	0.8734041	0.999999919457244	0.74766	0.660377	0.49826	0	0.514364	0.08380	0	0.503968	0.08637	0	0.592323	0.36904	0	.	.	4.16	2.26	0.27418	3.421000	0.52501	5.343000	0.48351	-0.394000	0.05329	0.990000	0.36992	1.000000	0.68203	0.280000	0.24017	0.0:0.1989:0.5955:0.2056	6.673	0.22265	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.000000	0.007289	0.000000	0.000000	0.000000	0.000000	0.003937	0.02632	532.33	43	chr8	37841925	.	G	A	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.654;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.18;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	37842198	37842200	AGA	-	exonic	ADGRA2	.	nonframeshift deletion	ADGRA2:NM_032777:exon19:c.3860_3862del:p.K1288del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0.0104	0.0057	.	0	0	0.0020	0.0001876	29	154602	rs745551659	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0040	0.0038	3.257e-05	2.838e-05	0	0.0046	2.174e-05	0.0004	1.857e-05	0.0001	0.0013	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	2.404e-05	0	6.533e-05	0.0003	0.0042	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2167.77	43	chr8	37842197	.	GAGA	G	2167.77	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.58;SOR=1.007	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1104	18	1	0	0
chr8	37844927	37844927	G	A	exonic	BRF2	.	nonsynonymous SNV	BRF2:NM_018310:exon4:c.C823T:p.R275W	.	417	1102	3	0	0	3	0.00135931	.	.	.	3210620	BRF2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0149555183157	0.0011	0.00119808	0.0013	0.0006	0.0025	0	0.0002	0.0018	0.0011	0.0002	0.0013713	212	154602	rs144553072	0.0016	0.0016	0.0016	0.0016	0.0049	0.0016	0.0015	0.0034	0.0030	0.0002	0.0025	0.0024	2.519e-05	0.0001	0.0049	0.0019	0.0013	0.0002	0.0015	0.0015	0.0014	0.0015	0.0035	0.0013	0.0012	0.0028	0.0025	0.0004	0	0.0035	0.0020	0	0	0	0.0020	0.0033	0.0002	0.008	0.58626	D	0.014	0.62352	D	0.997	0.70673	D	0.513	0.47989	P	0.000906	0.41128	D	0.237808	1	0.81001	D	1.87	0.49600	L	.	.	.	-2.56	0.55339	D	0.291	0.32921	-0.6713	0.61770	T	0.207	0.56622	T	9	0.0105267465	0.00234	T	0.014956	0.35409	T	0.144	0.38394	.	.	0.685979293142	0.68329	0.4784661507835182	0.47766	0.391737070457	0.40370	0.242206454277	0.02992	T	0.241363	0.60988	T	-0.327288	0.06319	T	-0.24783	0.50032	T	0.0274358040652158	0.01606	T	0.878312	0.59309	D	0.18296203	0.39540	0.11745158	0.28354	0.18296203	0.39540	0.11745158	0.28353	-10.16	0.74864	D	.	.	0.155	0.34316	B	.	.	4.401433	0.68008	25.2	0.99918597740979609	0.98586	0.66867	0.33228	D	AEFDBCI	0.341850	0.43820	N	0.295358880157705	0.55913	3.75543	0.281580453878784	0.54466	3.611345	0.999997132198618	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.64	5.64	0.86480	1.873000	0.39195	7.352000	0.58300	0.676000	0.76740	0.356000	0.25809	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.7378:0.2622	13.292	0.59709	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1243.33	36	chr8	37844927	.	G	A	1243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=747;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.753;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr8	37877186	37877186	A	G	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon2:c.T737C:p.V246A,RAB11FIP1:NM_025151:exon2:c.T737C:p.V246A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0234260225142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.46513	T	0.756	0.33109	T	0.935	0.58310	P	0.648	0.52381	P	0.033095	0.24942	N	0.336458	1	0.08975	N	2.935	0.84639	M	2.25	0.30937	T	-1.8	0.45042	N	0.364	0.53269	-1.0551	0.13013	T	0.082	0.32382	T	10	0.15033689	0.28436	T	0.023426	0.46390	T	0.077	0.22490	0.268	0.21576	0.470970234271	0.46722	0.3781056884480273	0.37725	0.43445077893	0.43583	0.487033247948	0.37028	T	0.019822	0.21421	T	-0.116623	0.33678	T	-0.405297	0.32769	T	0.766260802745819	0.44216	D	0.744226	0.36418	T	0.044105697	0.06994	0.051774416	0.08400	0.044105697	0.06993	0.051774416	0.08399	-2.676	0.38357	T	.	.	0.179	0.52368	B	.;.;.;.	.;.;.;.	2.684326	0.35026	19.79	0.77611629145936456	0.11948	0.44303	0.27289	N	AEFBI	0.162275	0.28843	N	-0.149812814982339	0.35241	2.021813	-0.21249283947377	0.31086	1.756053	0.999417555823027	0.39577	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.63	4.47	0.53770	2.409000	0.44236	4.631000	0.44116	0.735000	0.85950	0.091000	0.22601	0.983000	0.30585	0.051000	0.15275	0.7736:0.1502:0.0762:0.0	6.907	0.23495	794	0.45591	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	42	chr8	37877186	.	A	G	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=792;ExcessHet=0;FS=4.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.534;SOR=1.1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1273	18	0	1	0
chr8	37899275	37899275	A	G	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon1:c.T167C:p.V56A,RAB11FIP1:NM_025151:exon1:c.T167C:p.V56A	.	417	1104	1	0	0	1	0.000452694	.	.	.	2356086	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.792	0.309889922103	.	.	7.173e-05	0	0	0	0	4.338e-05	0	0.0003	3.88e-05	6	154602	rs774731084	3.16e-05	3.215e-05	2.324e-05	4.003e-05	0.0007	2.422e-05	2.166e-05	0.0002	0.0001	0	4.498e-05	0.0005	0	0	0.0007	9.004e-06	6.647e-05	0.0002	2.627e-05	2.625e-05	2.571e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0.0009	0	0	0	0	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000037	0.55875	D	0.000000	0.999999	0.81001	D	3.115	0.87836	M	-0.96	0.75553	T	-2.68	0.57762	D	0.807	0.80278	0.425	0.89467	D	0.629	0.86964	D	10	0.7821312	0.77942	D	0.30989	0.91152	D	0.792	0.93148	0.687	0.82462	0.937942229274	0.93729	0.6362453269027376	0.63558	2.52955605465	0.97769	0.94207918644	0.99530	D	0.113917	0.43133	T	0.0973046	0.64000	D	0.161674	0.80910	D	0.821499168872833	0.47884	D	0.865813	0.58144	D	0.5414319	0.69477	0.71399647	0.83122	0.5414319	0.69478	0.71399647	0.83123	-12.08	0.85238	D	.	.	0.936	0.89154	P	.;.	.;.	5.053308	0.84183	28.2	0.99805680478577408	0.88995	0.96096	0.67515	D	ALL	0.838014	0.75558	D	0.826116455844144	0.87710	9.31302	0.75536188603446	0.86555	8.927521	1.0	0.98316	0.437478	0.07067	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	5.05	5.05	0.67566	9.018000	0.93173	10.973000	0.84547	0.752000	0.88150	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	1.0:0.0:0.0:0.0	14.489	0.67218	784	0.47045	.;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1144.33	36	chr8	37899275	.	A	G	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=777;ExcessHet=0;FS=1.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.169;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	18	0	1	0
chr8	37934471	37934471	T	-	exonic	GOT1L1	.	frameshift deletion	GOT1L1:NM_152413:exon9:c.1088delA:p.Y363Sfs*26	.	434	1084	0	2	2	6	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0021	0.0002	8.639e-05	0.0268	0.0003	0.0001	0.0022	0.0007	0.0019534	302	154602	rs201462725	0.0009	0.0009	0.0009	0.0009	0.0284	0.0009	0.0008	0.0270	0.0264	8.969e-05	8.952e-05	0	0.0284	5.618e-05	0.0002	3.78e-05	0.0014	0.0007	0.0012	0.0012	0.0011	0.0014	0.0298	0.0011	0.0010	0.0260	0.0245	0.0002	0	0.0005	0	0.0298	0.0005	0	2.94e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1338.29	33	chr8	37934470	.	GT	G	1338.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=722;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.104;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	18	0	1	0
chr8	38163713	38163713	C	T	exonic	LSM1	.	nonsynonymous SNV	LSM1:NM_014462:exon4:c.G359A:p.R120Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0253123226742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917561702	7.525e-06	7.524e-06	5.445e-06	9.625e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.072	0.43344	T	1.0	0.90584	D	0.92	0.65550	D	0.000003	0.62929	D	0.061343	1	0.81001	D	1.875	0.49914	L	.	.	.	-2.88	0.60507	D	0.65	0.66101	-0.2995	0.74999	T	0.426	0.76963	T	9	0.6038947	0.67065	D	0.025312	0.48284	D	0.237	0.54074	0.346	0.34112	0.629560987919	0.62653	0.5558649004231646	0.55513	1.06520644226	0.76608	0.654107689857	0.60569	T	0.215102	0.57688	T	0.0860038	0.62736	D	-0.114238	0.62272	T	0.975616812705994	0.71012	D	0.948505	0.80194	D	0.17409334	0.38194	0.20549415	0.44721	0.17409334	0.38194	0.20549415	0.44720	-8.148	0.62074	D	.	.	0.245	0.47986	B	.	.	4.543602	0.71441	25.7	0.99937070804705985	0.99661	0.99308	0.94281	D	AEFBI	0.881763	0.80937	D	0.637662438192612	0.75573	6.329859	0.570660074026016	0.72845	5.874637	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.810000	0.84617	7.657000	0.64017	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:1.0:0.0:0.0	20.302	0.98618	117	0.95266	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	734.33	35	chr8	38163713	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.852;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr8	38169864	38169864	C	T	exonic	LSM1	.	nonsynonymous SNV	LSM1:NM_014462:exon3:c.G169A:p.G57S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0325704097246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368341544	9.578e-06	9.577e-06	5.446e-06	1.375e-05	0.0001	5.56e-06	4.35e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.181	0.29346	T	0.807	0.45251	P	0.438	0.45631	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.54	0.13725	N	1.02	0.40749	T	-4.82	0.80851	D	0.785	0.78167	-1.0935	0.04974	T	0.089	0.34298	T	10	0.74741864	0.75389	D	0.03257	0.54358	D	0.312	0.63375	0.49	0.57573	0.582854643734	0.57958	0.7725612028150308	0.77206	1.12731222335	0.78490	0.922370254993	0.98499	D	0.638617	0.88889	D	-0.0862385	0.38694	T	-0.264798	0.48343	T	0.947133183479309	0.62617	D	0.933807	0.75196	D	0.6120152	0.73336	0.5105698	0.71717	0.6120152	0.73337	0.5105698	0.71717	-7.697	0.58987	D	.	.	0.815	0.77969	P	.	.	4.794153	0.77832	26.8	0.9902386855211962	0.50634	0.98850	0.87681	D	AEFBI	0.882654	0.81095	D	0.101807828294213	0.46547	2.893381	0.217563179903793	0.50822	3.270298	0.999999999947245	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	4.83	0.61880	7.829000	0.84892	5.940000	0.51464	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1345:0.8655:0.0:0.0	16.153	0.81449	115	0.95340	LSM domain, eukaryotic/archaea-type|LSM domain, eukaryotic/archaea-type|Sm-like protein Lsm1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2585.33	220	chr8	38169864	.	C	T	2585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=859;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.237;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1366	18	0	1	0
chr8	38401015	38401017	CTC	-	exonic	LETM2	.	nonframeshift deletion	LETM2:NM_001330515:exon5:c.802_804del:p.L269del,LETM2:NM_144652:exon5:c.661_663del:p.L222del,LETM2:NM_001199659:exon6:c.805_807del:p.L270del,LETM2:NM_001199660:exon6:c.337_339del:p.L114del,LETM2:NM_001286787:exon6:c.337_339del:p.L114del,LETM2:NM_001286819:exon6:c.946_948del:p.L317del,LETM2:NM_001363204:exon6:c.403_405del:p.L136del,LETM2:NM_001363205:exon6:c.337_339del:p.L114del	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0043	0.0006145	95	154602	rs564083633	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	5.974e-05	8.944e-05	0	0	0	0.0019	0.0001	0.0006	0.0041	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1182.29	35	chr8	38401014	.	GCTC	G	1182.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=712;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.06;SOR=0.594	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	0	1	0
chr8	38419631	38419631	C	T	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174066:exon8:c.G919A:p.V307I,FGFR1:NM_001354368:exon8:c.G913A:p.V305I,FGFR1:NM_001354370:exon8:c.G913A:p.V305I,FGFR1:NM_023105:exon8:c.G919A:p.V307I,FGFR1:NM_023106:exon8:c.G913A:p.V305I,FGFR1:NM_001174063:exon9:c.G1186A:p.V396I,FGFR1:NM_001174065:exon9:c.G1180A:p.V394I,FGFR1:NM_001354367:exon9:c.G1180A:p.V394I,FGFR1:NM_001354369:exon9:c.G1180A:p.V394I,FGFR1:NM_015850:exon9:c.G1180A:p.V394I,FGFR1:NM_023110:exon9:c.G1186A:p.V396I,FGFR1:NM_001174064:exon10:c.G1162A:p.V388I,FGFR1:NM_001174067:exon10:c.G1279A:p.V427I	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1445625	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Jackson-Weiss_syndrome|Encephalocraniocutaneous_lipomatosis|Hartsfield-Bixler-Demyer_syndrome|Trigonocephaly_1|Osteoglophonic_dysplasia	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.200	0.0311793256465	.	.	2.484e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs752627281	1.163e-05	1.231e-05	1.089e-05	1.238e-05	5.038e-05	7.08e-06	5.79e-06	9.24e-06	4.56e-06	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.094e-06	0	3.478e-05	6.574e-05	6.567e-05	6.425e-05	6.73e-05	0.0001	3.518e-05	2.617e-05	6.285e-05	4.301e-05	0.0001	0	0	0	0	0	0	5.882e-05	0	0	0.615	0.06757	T	0.481	0.12632	T	0.007	0.14184	B	0.003	0.08700	B	0.000351	0.45440	N	0.255245	0.98956	0.26282	N	-1.285	0.00728	N	-1.59	0.82076	D	0.29	0.04233	N	0.071	0.05414	-0.9289	0.44299	T	0.169	0.50842	T	10	0.052855253	0.05385	T	0.031179	0.53322	D	0.200	0.48430	0.373	0.38503	0.298199939746	0.29431	0.282313918277118	0.28144	0.146048444311	0.16491	0.334691822529	0.15641	T	0.35964	0.72601	T	-0.365706	0.03817	T	-0.483653	0.24058	T	0.00776480371132493	0.00091	T	0.440256	0.13513	T	0.023392832	0.01076	0.030207632	0.01449	0.023392832	0.01075	0.030207632	0.01448	-2.568	0.08925	T	0.08186375081565414	0.04270	0.059	0.01109	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.689447	0.10580	7.287	0.76340976733239574	0.11429	0.10900	0.16270	N	AEFDBCI	0.132916	0.25239	N	-1.10207063891416	0.06606	0.3045908	-0.922510854027139	0.11564	0.5898616	0.994525405614589	0.33677	0.722319	0.85440	0	0.670034	0.63936	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.54	1.68	0.23219	0.214000	0.17331	0.939000	0.22838	-1.636000	0.00846	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:0.2139:0.1312:0.6549	5.770	0.17515	829	0.39537	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1606.33	33	chr8	38419631	.	C	T	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=799;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=2.47;SOR=0.817	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	960.29	38	chr8	38428395	.	G	GTCA	960.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=714;ExcessHet=0;FS=4.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-0.631;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr8	38787628	38787628	A	C	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001122824:exon1:c.A46C:p.K16Q,TACC1:NM_001352779:exon1:c.A46C:p.K16Q,TACC1:NM_001352781:exon1:c.A46C:p.K16Q,TACC1:NM_001352783:exon1:c.A46C:p.K16Q,TACC1:NM_001352800:exon1:c.A46C:p.K16Q,TACC1:NM_001352801:exon1:c.A46C:p.K16Q,TACC1:NM_001352803:exon1:c.A46C:p.K16Q,TACC1:NM_006283:exon1:c.A46C:p.K16Q,TACC1:NM_001352778:exon3:c.A94C:p.K32Q,TACC1:NM_001352780:exon3:c.A94C:p.K32Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.112114127622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.014	0.92824	D	0.906	0.49993	P	0.444	0.45865	B	0.000530	0.43581	D	0.086761	1	0.81001	D	2.52	0.73523	M	2.28	0.60734	T	-2.97	0.61865	D	0.377	0.41853	-0.6827	0.61248	T	0.217	0.57876	T	10	0.34808838	0.51730	T	0.112114	0.79014	D	0.065	0.18881	0.427	0.47350	0.664534855796	0.66171	0.5075763687175749	0.50679	0.494330584606	0.47994	0.813246667385	0.83990	D	0.136289	0.46857	T	-0.0299475	0.47426	T	-0.280794	0.46724	T	0.978589951992035	0.72399	D	0.931507	0.75281	D	0.26986337	0.50058	0.16012678	0.37311	0.26986337	0.50058	0.16012678	0.37310	-9.593	0.71437	D	.	.	0.682	0.72230	P	.;.;.	.;.;.	4.573802	0.72187	25.8	0.98791612972740106	0.46301	0.86576	0.45885	D	ALL	0.492463	0.52909	N	0.258323239028593	0.54053	3.572	0.283260615034968	0.54560	3.620782	0.999999997850026	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	4.75	3.51	0.39297	2.200000	0.42358	7.733000	0.67792	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8236:0.1764:0.0:0.0	9.563	0.38545	828	0.39726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1145.33	34	chr8	38787628	.	A	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.871;DP=729;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.04;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	18	0	1	0
chr8	38976717	38976717	C	A	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon3:c.C749A:p.A250E	.	432	1088	1	0	1	2	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.181307999071	.	.	3.306e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs372971012	2.121e-05	2.121e-05	8.167e-06	3.438e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	4.496e-06	0	0.0003	4.6e-05	4.594e-05	2.572e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.52	0.99038	H	-3.96	0.96208	D	-4.69	0.79743	D	0.964	0.97426	1.056	0.98243	D	0.964	0.98859	D	10	0.989511	0.99418	D	0.181308	0.85547	D	0.920	0.97965	0.911	0.98230	0.976296881218	0.97604	0.9423047363021793	0.94211	0.574919805855	0.53506	0.528207182884	0.42782	T	0.831287	0.95974	D	0.325706	0.84871	D	0.530401	0.95238	D	0.997490525245667	0.91692	D	0.846715	0.52677	T	0.8773921	0.89454	0.82204217	0.89670	0.8773921	0.89455	0.82204217	0.89670	-16.136	0.97958	D	.	.	0.979	0.91004	P	.	.	5.732578	0.93286	33	0.99473668723604514	0.66472	0.98124	0.79803	D	AEFDBIJ	0.795792	0.72311	D	0.927755958424443	0.93053	11.79123	0.776454396005106	0.88113	9.46196	0.999999999947978	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.38	4.49	0.54177	6.080000	0.70936	5.973000	0.52033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.285000	0.24139	0.0:0.9175:0.0:0.0825	12.430	0.54907	647	0.63344	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	779.33	33	chr8	38976717	.	C	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.05;DP=657;ExcessHet=0;FS=4.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-1.72;SOR=0.25	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr8	38995472	38995472	G	A	exonic	TM2D2	.	nonsynonymous SNV	TM2D2:NM_001024380:exon2:c.C32T:p.T11M,TM2D2:NM_001024381:exon2:c.C32T:p.T11M,TM2D2:NM_031940:exon2:c.C32T:p.T11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.003854459859	.	0.000199681	8.47e-06	9.714e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs201354496	4.853e-06	5.472e-06	2.759e-06	6.968e-06	9.479e-05	2.02e-06	1.3e-06	2.511e-05	1.296e-05	9.479e-05	2.471e-05	0	0	0	0	0	3.36e-05	1.198e-05	6.566e-05	6.563e-05	3.854e-05	9.402e-05	0.0003	3.514e-05	2.615e-05	8.873e-05	5.284e-05	0.0001	0	0.0003	0	0	0	0	0	0.0005	0	0.023	0.91255	D	0.113	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.38	0.89534	N	0.138	0.13626	-1.0348	0.18920	T	0.039	0.16935	T	8	0.040415138	0.02609	T	0.003854	0.09024	T	0.017	0.02790	.	.	0.0884992946249	0.08302	.	.	.	.	.	.	.	.	.	.	-0.327424	0.06309	T	-0.520925	0.20202	T	0.0359617417711971	0.02974	T	0.408959	0.10549	T	.	.	.	.	.	.	.	.	-3.721	0.19628	T	.	.	0.148	0.36495	B	.;.;.;.;.	.;.;.;.;.	0.894887	0.12684	9.208	0.99461381214395961	0.65840	0.00297	0.01586	N	AEFDGBHCI	0.030919	0.03204	N	-1.35444590315098	0.03079	0.1369834	-1.34226463905379	0.03897	0.1827665	0.999997900199288	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.694767	0.63188	0	0.657601	0.63696	0	.	.	5.64	-1.02	0.09618	0.412000	0.20852	-0.111000	0.11829	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4801:0.1568:0.3631:0.0	5.193	0.14543	650	0.62973	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2257.33	35	chr8	38995472	.	G	A	2257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=766;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.311;SOR=1.092	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K	Cone-rod dystrophy 9	3	1467	49	3	0	55	0.0184008	.	.	.	193527	Cone-rod_dystrophy_9|not_specified|not_provided	MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011078	0.015152	0.008152	0.002924	0.000000	0.000000	0.018293	0.018939	0.02632	1908.33	35	chr8	39011688	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=769;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.24;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1387	18	0	1	0
chr8	39023298	39023298	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon9:c.G887A:p.R296Q	Cone-rod dystrophy 9	0	1487	34	1	0	36	0.0119601	.	.	.	700586	not_provided|Cone-rod_dystrophy_9|ADAM9-related_disorder	MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0003	0.00299521	0.0016	9.614e-05	0	0	0	0.0002	0.0044	0.0108	0.0014359	222	154602	rs140082569	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	8.963e-05	0.0001	0.0007	0	0	0.0062	0.0001	0.0009	0.0106	0.0004	0.0004	0.0003	0.0006	0.0075	0.0003	0.0003	0.0056	0.0049	9.653e-05	0	0.0001	0.0006	0.0004	0	0.0068	0.0002	0.0014	0.0075	0.215	0.19293	T	0.342	0.17910	T	0.19	0.29379	B	0.104	0.31021	B	0.000466	0.44119	D	0.222992	0.996547	0.43267	D	0.845	0.21182	L	-0.03	0.63077	T	-0.86	0.23372	N	0.269	0.30461	-0.9490	0.41143	T	0.156	0.48738	T	10	0.010584384	0.00235	T	.	.	.	0.077	0.22490	.	.	0.619369558668	0.61629	0.7875244783580344	0.78704	0.725681066863	0.62467	0.367673099041	0.20497	T	0.069037	0.33608	T	-0.361387	0.04053	T	-0.284065	0.46386	T	0.081637792289257	0.10196	T	0.892211	0.62852	D	0.15890746	0.35725	0.12609394	0.30372	0.15890746	0.35725	0.12609394	0.30371	-7.237	0.55746	T	0.21740283894345605	0.29260	0.099	0.16800	B	.	.	3.887764	0.56547	23.7	0.99678237190756069	0.79043	0.97884	0.77855	D	AEFBI	0.683345	0.64606	D	-0.0573578137192683	0.39275	2.313407	0.127578103551964	0.45966	2.850455	0.999999959626565	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.82	4.94	0.64645	4.607000	0.60840	3.905000	0.40374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0698:0.0:0.9302:0.0	14.455	0.66986	661	0.61838	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004040	0.000000	0.005435	0.000000	0.000000	0.000000	0.006135	0.011364	0.02632	815.33	33	chr8	39023298	.	G	A	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.383;SOR=0.664	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	18	0	1	0
chr8	39107706	39107706	-	CGCGTCCC	exonic	ADAM32	.	frameshift insertion	ADAM32:NM_001313994:exon1:c.32_33insCGCGTCCC:p.W17Rfs*49	.	429	1090	3	0	0	3	0.00137426	.	.	.	3226534	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0010	0	0	0	0	0.0024	0	0.0003	0.0001537	4	26028	rs200029015	0.0028	0.0028	0.0028	0.0027	0.0146	0.0027	0.0027	0.0136	0.0132	0.0017	0.0003	0.0020	0.0146	0.0473	0.0016	0.0007	0.0027	0.0002	0.0055	0.0056	0.0031	0.0080	0.0070	0.0052	0.0051	0.0052	0.0046	0.0012	0	0.0005	0.0029	0.0070	0.0568	0	0.0020	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1816.29	35	chr8	39107706	.	G	GCGCGTCCC	1816.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=754;ExcessHet=0;FS=7.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.298;SOR=1.378	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	1	0
chr8	39186980	39186980	A	G	exonic	ADAM32	.	nonsynonymous SNV	ADAM32:NM_145004:exon11:c.A987G:p.I329M	.	.	.	.	.	.	.	.	.	.	.	2706780	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0180304301488	8.5e-05	0.000399361	4.978e-05	0.0006	0	0	0	0	0	0	5.17e-05	8	154602	rs201567035	2.259e-05	2.257e-05	2.997e-05	1.514e-05	0.0009	1.611e-05	1.417e-05	0.0006	0.0005	0.0009	2.238e-05	0	0	0	0	0	4.972e-05	0	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.231e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.072	0.43344	T	0.443	0.35940	B	0.525	0.48375	P	0.191228	0.16841	N	0.433856	1	0.81001	D	1.035	0.25616	L	0.06	0.61798	T	-1.65	0.39503	N	0.115	0.10340	-0.9045	0.47504	T	0.143	0.46404	T	10	0.040857702	0.02690	T	0.01803	0.39953	T	0.173	0.43840	.	.	0.299427821978	0.29548	0.48967768701044145	0.48887	0.218217447012	0.24354	0.42160230875	0.28057	T	0.020873	0.16353	T	-0.407954	0.02051	T	-0.469741	0.25544	T	0.100828786125704	0.12448	T	0.607439	0.22904	T	0.28043637	0.51091	0.21621795	0.46241	0.28043637	0.51091	0.21621795	0.46240	-4.54	0.31408	T	.	.	0.142	0.31304	B	.	.	1.713972	0.21823	15.36	0.99562549880394779	0.71892	0.07006	0.13033	N	AEI	0.116683	0.22890	N	-0.536412033506882	0.20912	1.105904	-0.46517353914024	0.23119	1.259187	4.77285388094991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.47	3.08	0.34576	-0.415000	0.07170	0.001000	0.13291	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.8198:0.0:0.1802:0.0	7.090	0.24458	808	0.43318	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1366.33	33	chr8	39186980	.	A	G	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=720;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.006;SOR=0.839	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1213	18	0	1	0
chr8	39610551	39610551	A	C	exonic	ADAM18	.	nonsynonymous SNV	ADAM18:NM_001190956:exon6:c.A367C:p.I123L,ADAM18:NM_001320313:exon6:c.A367C:p.I123L,ADAM18:NM_014237:exon6:c.A367C:p.I123L	.	494	1025	3	0	0	3	0.00146128	.	.	.	2821050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0032	0.00439297	0.0017	0.0077	0.0041	0	0	0.0011	0.0022	0.0001	0.0016623	257	154602	rs139114737	0.0012	0.0013	0.0013	0.0012	0.0077	0.0012	0.0012	0.0070	0.0067	0.0077	0.0058	0.0044	0	3.75e-05	0.0067	0.0009	0.0030	0.0002	0.0044	0.0044	0.0043	0.0044	0.0135	0.0041	0.0040	0.0120	0.0114	0.0080	0	0.0135	0.0049	0	0	0.0374	0.0011	0.0095	0.0008	0.027	0.48642	D	0.041	0.50514	D	0.161	0.28372	B	0.292	0.40739	B	0.521007	0.11741	N	0.750320	1	0.28409	N	1.175	0.29870	L	3.43	0.05440	T	-1.82	0.43524	N	0.313	0.39153	-0.9235	0.45070	T	0.012	0.04510	T	10	0.0068491697	0.00156	T	.	.	.	0.070	0.20419	.	.	0.104622674875	0.10061	0.33679324606775685	0.33592	0.0203480443354	0.02001	0.349788963795	0.17891	T	0.004423	0.03828	T	-0.601286	0.00143	T	-0.630791	0.10354	T	0.00442293320435735	0.00047	T	.	.	.	0.12853004	0.30046	0.109777346	0.26461	0.12853004	0.30046	0.109777346	0.26461	-4.34	0.32272	T	.	.	0.106	0.28693	B	.;.;.	.;.;.	0.715609	0.10848	7.524	0.88228436428169077	0.17814	0.06743	0.12765	N	AEI	0.068355	0.13481	N	-1.44555611688112	0.02252	0.09923785	-1.46882649342903	0.02604	0.1200393	1.40613444541967E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	-3.75	0.04087	-0.316000	0.08112	-0.448000	0.09117	-0.552000	0.04894	0.029000	0.20367	0.000000	0.08366	0.095000	0.18041	0.5203:0.0:0.3672:0.1125	6.780	0.22825	867	0.32089	Peptidase M12B, propeptide;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012614	0.051020	0.016304	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	966.33	35	chr8	39610551	.	A	C	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=697;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.103;SOR=0.453	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr8	39746506	39746506	T	C	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon18:c.A2083G:p.K695E,ADAM2:NM_001278114:exon18:c.A1951G:p.K651E,ADAM2:NM_001464:exon19:c.A2140G:p.K714E	.	4	220	2	0	0	2	0.00452489	.	.	.	2425363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00217131088309	.	.	9.091e-05	0	0	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs201499441	0.0001	0.0001	9.778e-05	0.0001	0.0002	9.091e-05	8.568e-05	0.0002	0.0001	0	0	0.0012	0	0	0	8.229e-05	0.0002	0.0002	9.2e-05	9.193e-05	8.994e-05	9.416e-05	0.0004	5.528e-05	4.365e-05	7.285e-05	3.027e-05	4.825e-05	0	0	0.0012	0	0	0.0032	7.351e-05	0	0.0004	0.011	0.57480	D	0.024	0.64786	D	1.0	0.90584	D	0.98	0.74843	D	.	.	.	.	1	0.08975	N	1.625	0.41611	L	4.94	0.02513	T	-2.45	0.55025	N	0.287	0.33030	-1.0460	0.15534	T	0.022	0.09421	T	9	0.08398822	0.14029	T	0.002171	0.04071	T	0.075	0.21907	.	.	0.317667799068	0.31381	0.30719901758541823	0.30632	0.0318931343396	0.03313	0.527877569199	0.42735	T	0.09892	0.40322	T	-0.38784	0.02778	T	-0.498689	0.22484	T	0.129320621490479	0.15319	T	0.587141	0.21771	T	0.28172767	0.51214	0.23589554	0.48847	0.28172767	0.51214	0.23589554	0.48846	-5.121	0.39114	T	.	.	0.221	0.55306	B	.;.;.;.;.	.;.;.;.;.	2.993217	0.39968	21.1	0.98904554633869857	0.48254	0.11341	0.16569	N	AEI	0.040575	0.06054	N	-0.0653870921031335	0.38918	2.286853	-0.231743352121189	0.30406	1.711693	1.49873276664233E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	1.582000	0.36177	5.596000	0.49011	0.609000	0.47794	0.495000	0.26917	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.0:1.0	9.304	0.37024	850	0.35610	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1073.33	34	chr8	39746506	.	T	C	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=2.18;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr8	39749410	39749410	T	C	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon17:c.A1859G:p.Y620C,ADAM2:NM_001278114:exon17:c.A1727G:p.Y576C,ADAM2:NM_001464:exon18:c.A1916G:p.Y639C	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0035	0.000599042	0.0073	0.0008	0.0005	0	0.0291	0.0098	0.0055	0.0010	0.0064876	1003	154602	rs113117613	0.0055	0.0055	0.0057	0.0053	0.0053	0.0054	0.0054	0.0052	0.0051	0.0006	0.0007	0.0052	0	0.0295	0.0019	0.0053	0.0041	0.0016	0.0051	0.0051	0.0044	0.0059	0.0061	0.0048	0.0047	0.0056	0.0054	0.0006	0	0.0009	0.0046	0.0002	0.0276	0	0.0061	0.0062	0.0008	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	3.165	0.88605	M	-4.5	0.97650	D	-6.97	0.94196	D	0.748	0.77319	0.865	0.95220	D	0.944	0.98163	D	9	0.015770882	0.00331	T	.	.	.	0.352	0.67326	.	.	0.961795882662	0.96138	0.8831942922477366	0.88287	0.194257842881	0.21761	0.481885701418	0.36317	T	0.573478	0.85916	D	-0.165859	0.25863	T	-0.00462415	0.70035	D	0.115990617188411	0.14034	T	0.887111	0.87984	D	0.17439848	0.38242	0.21871173	0.46584	0.17439848	0.38242	0.21871173	0.46583	-10.948	0.79980	D	.	.	0.719	0.80826	P	.;.;.;.;.	.;.;.;.;.	2.177111	0.27751	17.57	0.92755912545840247	0.22264	0.01376	0.04691	N	AEI	0.035058	0.04449	N	-0.52545164252018	0.21260	1.12693	-0.885702346302069	0.12432	0.6394657	6.48668089972477E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	-5.42	0.02434	-0.334000	0.07927	-2.161000	0.04123	-0.157000	0.11712	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.7051:0.0894:0.0:0.2056	7.111	0.24566	849	0.35778	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	816.33	33	chr8	39749410	.	T	C	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=665;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.216;SOR=0.579	GT:AD:DP:GQ:PL	0/1:18,35:53:99:830,0,351	18	0	1	0
chr8	39837168	39837168	G	A	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon2:c.C100T:p.R34W,ADAM2:NM_001278114:exon2:c.C100T:p.R34W,ADAM2:NM_001464:exon2:c.C100T:p.R34W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00322263196915	0.0022	0.00119808	0.0005	0.0056	0	0	0	1.504e-05	0	0	0.0004204	65	154602	rs145304406	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0059	0.0069	0.0002	0	0	0	0	3.609e-05	0.0002	3.513e-05	0.0022	0.0022	0.0022	0.0021	0.0077	0.0020	0.0019	0.0070	0.0068	0.0077	0	0.0004	0	0.0002	0	0	5.882e-05	0.0009	0	0.003	0.68238	D	0.009	0.72224	D	0.264	0.77913	B	0.087	0.64984	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	4.98	0.02319	T	-3.61	0.70432	D	0.397	0.45803	-0.9753	0.36059	T	0.011	0.04274	T	8	0.012860894	0.00275	T	0.003223	0.07087	T	0.044	0.11924	.	.	0.383256108077	0.37933	0.727675121907394	0.72711	0.02731850257	0.02790	0.263501286507	0.05314	T	0.170783	0.51865	T	-0.513643	0.00479	T	-0.507699	0.21552	T	0.0493694349515867	0.05389	T	0.830517	0.53201	T	0.22601904	0.45274	0.19503978	0.43159	0.22601904	0.45274	0.19503978	0.43158	-5.991	0.46204	T	.	.	0.134	0.36554	B	.;.;.;.;.	.;.;.;.;.	1.223123	0.16170	12.36	0.99569811126715924	0.72318	0.02225	0.06470	N	AEFI	0.049578	0.08580	N	-0.66890410134482	0.16911	0.8657948	-0.815429056569939	0.14121	0.7362453	2.97917759456485E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	0.737	0.17463	0.021000	0.13381	0.485000	0.18844	0.618000	0.50648	0.001000	0.13787	0.001000	0.17328	0.200000	0.21896	0.0:0.3737:0.4344:0.1919	6.805	0.22957	883	0.28872	.;Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	136	chr8	39837168	.	G	A	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=801;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.419;SOR=0.706	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	39913951	39913951	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon1:c.C29A:p.T10K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00254578184856	.	.	3.353e-05	0	0	0	0	6.884e-05	0	0	6.5e-06	1	154602	rs768056394	4.217e-06	6.84e-06	2.781e-06	5.683e-06	3.071e-05	1.52e-06	1e-06	1.34e-06	9.8e-07	3.071e-05	0	0	0	0	0	4.578e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.971	0.02141	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.020766	0.01539	N	2.064070	1	0.08975	N	0.49	0.13296	N	0.96	0.42888	T	-1.08	0.28084	N	0.077	0.05162	-1.0526	0.13682	T	0.060	0.24981	T	9	0.04256943	0.03020	T	0.002546	0.05093	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.412411800311297	0.41157	0.0403095053175	0.04319	0.266141235828	0.05644	T	0.013478	0.51985	T	-0.270584	0.11692	T	-0.626451	0.10685	T	0.0141489893032003	0.00277	T	0.379462	0.09138	T	0.08926666	0.20851	0.055360727	0.09697	0.08926666	0.20851	0.055360727	0.09697	-2.835	0.08510	T	.	.	0.065	0.01859	B	.;.;.;.;.	.;.;.;.;.	-0.977119	0.00804	0.027	0.50030135677590115	0.04313	0.00234	0.01306	N	AEFDGBHI	0.036903	0.04991	N	-1.41717905396658	0.02488	0.1099198	-1.46284327439309	0.02656	0.1225387	0.999999847898237	0.74766	0.67177	0.52595	0	0.607795	0.50457	0	0.702456	0.68683	0	0.75052	0.99595	0	.	.	5.51	-4.85	0.02911	-0.965000	0.03939	0.723000	0.21028	-0.306000	0.06133	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2329:0.2901:0.4771:0.0	7.671	0.27626	915	0.20917	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	35	chr8	39913951	.	C	A	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.867;DP=692;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=0.787;SOR=0.934	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr8	39918109	39918109	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon3:c.C205A:p.H69N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0116057051404	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763006663	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.994e-07	0	6.957e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.452	0.13131	T	0.614	0.19073	T	0.025	0.19245	B	0.033	0.22329	B	0.920817	0.08488	N	0.958528	1	0.08975	N	0.69	0.16971	N	1.04	0.40218	T	-1.47	0.47008	N	0.272	0.30800	-1.0091	0.27198	T	0.076	0.30460	T	9	0.13601133	0.25879	T	0.011606	0.29407	T	0.020	0.03691	0.448	0.50793	0.173771789658	0.16945	0.09552612691611206	0.09484	0.0482480031121	0.05275	0.27166184783	0.06359	T	0.022814	0.51171	T	-0.489342	0.00655	T	-0.738028	0.03975	T	0.0340651068316614	0.02648	T	0.555844	0.19458	T	0.26873446	0.49945	0.08870297	0.20700	0.26873446	0.49945	0.08870297	0.20699	-3.106	0.11365	T	.	.	0.065	0.03231	B	.;.;.;.	.;.;.;.	1.395071	0.18080	13.54	0.76137086444215341	0.11347	0.08456	0.14383	N	AEFDHCI	0.112841	0.22288	N	-0.963261578018857	0.09397	0.4445764	-0.936354518599568	0.11240	0.5714483	0.00790191170281683	0.11569	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.65	2.82	0.32061	0.268000	0.18336	2.105000	0.30626	-0.368000	0.05462	0.000000	0.06391	0.017000	0.20586	0.338000	0.25386	0.0975:0.4341:0.4684:0.0	7.491	0.26629	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1558.33	41	chr8	39918109	.	C	A	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.225;DP=785;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.772;SOR=0.842	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	18	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	253.95	36	chr8	39963621	.	A	G	253.95	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.5;DP=2573;ExcessHet=0.7564;FS=95.1;InbreedingCoeff=-0.1267;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.07;SOR=11.761	GT:AD:DP:GQ:PL	0/0:142,30:172:32:0,32,2667	15	0	4	0
chr8	41541835	41541835	G	A	exonic	GINS4	.	nonsynonymous SNV	GINS4:NM_032336:exon7:c.G511A:p.V171M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0373064001694	.	0.000998403	0.0003	9.612e-05	0	0.0037	0	1.5e-05	0	0.0002	0.0003105	48	154602	rs141719341	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0032	0.0030	0.0001	2.236e-05	3.827e-05	0.0037	0	0	2.968e-05	0.0006	0.0004	0.0003	0.0003	0.0002	0.0003	0.0056	0.0002	0.0002	0.0040	0.0035	0.0002	0	0	0	0.0056	0	0	1.47e-05	0.0005	0.0008	0.002	0.78490	D	0.06	0.45961	T	1.0	0.90584	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	.	.	.	-2.51	0.54546	D	0.791	0.78737	0.094	0.84061	D	0.505	0.81344	D	9	0.021388203	0.00511	T	0.037306	0.57535	D	0.503	0.78538	.	.	0.761784165048	0.75962	0.7906023734157561	0.79012	0.920288420152	0.71416	0.693914532661	0.66268	T	0.647203	0.89251	D	0.171915	0.71299	D	0.475948	0.94116	D	0.184585889100462	0.19519	T	0.934007	0.75281	D	0.77250975	0.82199	0.6316942	0.78512	0.77250975	0.82200	0.6316942	0.78513	-8.562	0.64838	D	.	.	0.815	0.81023	P	.;.;.	.;.;.	5.134849	0.85943	28.8	0.99910436780594669	0.98022	0.99131	0.91682	D	AEFDGBIJ	0.909361	0.86588	D	0.928737640316247	0.93096	11.818	0.901602010050512	0.95641	13.82069	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.93	5.93	0.95888	9.602000	0.97623	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.325	0.94246	657	0.62240	DNA replication complex GINS protein SLD5, C-terminal;DNA replication complex GINS protein SLD5, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1874.33	37	chr8	41541835	.	G	A	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=762;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.361;SOR=0.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1340	18	0	1	0
chr8	41618729	41618729	G	A	exonic	GPAT4	.	nonsynonymous SNV	GPAT4:NM_001363197:exon11:c.G1099A:p.G367R,GPAT4:NM_178819:exon11:c.G1099A:p.G367R,GPAT4:NM_001363198:exon12:c.G475A:p.G159R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.173128227687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423307177	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.993e-07	0	0	6.57e-06	6.566e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.015	0.52492	D	0.055	0.46862	T	0.245	0.31074	B	0.066	0.27432	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-3.27	0.93640	D	-2.32	0.51478	N	0.97	0.98065	0.351	0.88356	D	0.718	0.90309	D	10	0.7690784	0.76936	D	0.173128	0.84991	D	0.693	0.88867	0.574	0.69826	0.955198934392	0.95471	0.9731592485454964	0.97304	1.63632663427	0.89315	0.919833064079	0.98311	D	0.248415	0.61821	T	0.469312	0.93309	D	0.436358	0.93224	D	0.908958792686462	0.56370	D	0.971203	0.89615	D	0.39157	0.60144	0.4285216	0.66563	0.39157	0.60144	0.4285216	0.66563	-12.842	0.88701	D	.	.	0.847	0.79589	P	.	.	4.846468	0.79174	27.0	0.9987473048759874	0.95160	0.99548	0.97318	D	AEFDBI	0.945246	0.95332	D	0.335298702810981	0.57968	3.966568	0.499760219471056	0.67975	5.156586	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	10.003000	0.99689	9.931000	0.82580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	18.819	0.92054	766	0.49742	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3574.81	34	chr8	41618729	.	G	A	3574.81	.	AC=2;AF=0.053;AN=38;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.09;SOR=1.49	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3602,345,0	18	1	0	0
chr8	41684589	41684589	G	A	exonic	ANK1	.	nonsynonymous SNV	ANK1:NM_000037:exon37:c.C4492T:p.R1498W,ANK1:NM_020475:exon37:c.C4492T:p.R1498W,ANK1:NM_020476:exon37:c.C4492T:p.R1498W,ANK1:NM_020477:exon37:c.C4492T:p.R1498W,ANK1:NM_001142446:exon38:c.C4615T:p.R1539W	Spherocytosis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2849587	not_provided|Hereditary_spherocytosis_type_1	MedGen:C3661900|MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.0718535680412	7.7e-05	0.000199681	3.3e-05	0.0002	0	0.0001	0	0	0.0011	0	3.88e-05	6	154602	rs373965109	4.243e-05	4.241e-05	4.221e-05	4.264e-05	0.0010	3.378e-05	3.066e-05	0.0007	0.0006	0.0010	4.473e-05	0	5.038e-05	0	0	1.799e-06	0.0004	0	0.0001	0.0001	8.991e-05	0.0001	0.0004	7.571e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	0.04	0.42487	D	0.03	0.54159	D	0.007	0.19075	B	0.001	0.16862	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.045	0.56016	M	-0.28	0.67712	T	-2.96	0.62343	D	0.492	0.58713	-0.4433	0.70621	T	0.343	0.70859	T	10	0.18850562	0.34408	T	0.071854	0.71379	D	0.291	0.61040	.	.	0.826217112031	0.82457	0.5805746669206779	0.57986	0.315696915889	0.33844	0.403199195862	0.25514	T	0.311663	0.68354	T	0.0509681	0.58467	T	0.131628	0.78999	D	0.120311401962331	0.14461	T	0.909209	0.67884	D	0.5613294	0.70583	0.26135156	0.51911	0.5613294	0.70584	0.26135156	0.51910	-4.557	0.32297	T	0.34693946109466645	0.44438	0.094	0.14706	B	.;.;.	.;.;.	2.070897	0.26338	17.08	0.99394172379438306	0.62474	0.45920	0.27645	N	AEFGBCI	0.774510	0.70820	D	-0.736430692623101	0.15005	0.7523843	-0.81261870761737	0.14190	0.7401654	0.999914645920274	0.45857	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.635259	0.50027	0	.	.	5.23	-0.257	0.12338	0.361000	0.20003	0.051000	0.14001	0.676000	0.76740	0.081000	0.22364	0.486000	0.25128	0.238000	0.22948	0.0:0.0:0.3759:0.6241	15.143	0.72305	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2039.33	34	chr8	41684589	.	G	A	2039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=769;ExcessHet=0;FS=5.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.759;SOR=1.15	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr8	41937279	41937281	TCT	-	exonic	KAT6A	.	nonframeshift deletion	KAT6A:NM_006766:exon16:c.3327_3329del:p.E1109del	Mental retardation, autosomal dominant 32, Autosomal dominant	431	1084	7	0	0	7	0.00321839	.	.	.	579610	KAT6A-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00698882	0.0063	9.626e-05	0.0004	0.0402	0.0319	0.0025	0.0089	0.0014	0.0005379	14	26028	rs201760077	0.0027	0.0027	0.0027	0.0027	0.0427	0.0026	0.0026	0.0410	0.0403	5.981e-05	0.0001	3.829e-05	0.0427	0.0285	0.0007	0.0003	0.0034	0.0017	0.0040	0.0040	0.0025	0.0055	0.0403	0.0037	0.0036	0.0358	0.0341	7.22e-05	0	0.0003	0	0.0403	0.0308	0	0.0007	0.0024	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1234.29	43	chr8	41937278	.	ATCT	A	1234.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=802;ExcessHet=0;FS=2.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=1.14;SOR=0.368	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr8	42308900	42308900	G	A	splicing	IKBKB	NM_001556:exon8:c.568-1G>A;NM_001242778:exon7:c.391-1G>A;NM_001190720:exon7:c.376-1G>A	.	.	Immunodeficiency 15, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.887379	0.95870	35	0.99147853207447401	0.53737	0.98619	0.84773	D	AEFDBI	.	.	.	1.04757159915052	0.97032	15.48912	0.859779741827455	0.93576	12.13387	0.999999998424202	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.231597	0.04857	0	0.117559	0.03655	0	0.867	0.53453	4.92	4.04	0.46262	9.931000	0.98823	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.1395:0.8605:0.0	15.464	0.75116	620	0.66037	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	34	chr8	42308900	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.933;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.18;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr8	42319645	42319645	G	A	exonic	IKBKB	.	nonsynonymous SNV	IKBKB:NM_001190720:exon14:c.G1385A:p.R462Q,IKBKB:NM_001242778:exon14:c.G1400A:p.R467Q,IKBKB:NM_001556:exon15:c.G1577A:p.R526Q	Immunodeficiency 15, Autosomal recessive	427	1088	7	0	0	7	0.0032066	0.7745	0.482	.	457850	not_provided|Severe_combined_immunodeficiency_due_to_IKK2_deficiency	MedGen:C3661900|MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.140	.	0.0005	0.023762	0.0091	0.0012	0.0003	0.1163	0	9.097e-05	0.0045	0.0031	0.0083117	1285	154602	rs2272736	0.0037	0.0037	0.0038	0.0037	0.1175	0.0036	0.0036	0.1147	0.1135	0.0005	0.0002	0.0002	0.1175	1.885e-05	0.0010	5.076e-05	0.0058	0.0033	0.0045	0.0045	0.0038	0.0053	0.1132	0.0042	0.0041	0.1056	0.1026	0.0013	0	0.0005	0.0003	0.1132	9.45e-05	0	4.412e-05	0.0047	0.0054	0.464	0.12032	T	0.843	0.03579	T	0.064	0.25993	B	0.008	0.18783	B	0.000017	0.62929	D	0.067723	6.13168e-05	0.81001	P	0.895	0.22405	L	-0.74	0.74053	T	-0.11	0.08653	N	0.072	0.09349	-0.9030	0.47673	T	0.007	0.02321	T	9	0.0016427338	0.00020	T	.	.	.	0.140	0.37593	.	.	0.805079097039	0.80325	0.4466651140284344	0.44584	0.502947755807	0.48645	0.385224372149	0.22994	T	0.103558	0.41232	T	-0.448407	0.01154	T	-0.320166	0.42557	T	0.0170176783742573	0.00450	T	0.840716	0.51609	T	0.11381955	0.26877	0.17354718	0.39689	0.18257053	0.39483	0.1934166	0.42909	-2.753	0.08193	T	.	.	0.093	0.14108	B	.;.;.;.	.;.;.;.	3.355106	0.46298	22.3	0.99101621926704753	0.52471	0.89332	0.49733	D	AEFGBHCI	0.689306	0.65002	D	-0.00249362639216851	0.41742	2.502315	0.193685024737001	0.49500	3.152451	0.99999999501522	0.74766	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.683672	0.66515	0	.	.	5.73	5.73	0.89730	5.803000	0.68791	6.700000	0.56368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:1.0:0.0	19.502	0.95092	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001011	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	1601.33	122	chr8	42319645	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=747;ExcessHet=0;FS=2.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.96;SOR=0.508	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1314	18	0	1	0
chr8	42856374	42856374	T	C	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon7:c.A562G:p.M188V,RNF170:NM_001160225:exon7:c.A310G:p.M104V,RNF170:NM_030954:exon7:c.A562G:p.M188V	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	.	0.0004	0.00319489	0.0084	0	0.0002	0.0150	0.0731	0.0057	0.0188	0.0002	0.0067334	1041	154602	rs147488061	0.0033	0.0033	0.0033	0.0033	0.0105	0.0032	0.0032	0.0097	0.0094	6.163e-05	0.0002	0	0.0105	0.0605	0.0004	0.0008	0.0038	0.0003	0.0065	0.0066	0.0034	0.0098	0.0129	0.0062	0.0061	0.0104	0.0095	4.812e-05	0	0.0004	0	0.0129	0.0730	0	0.0020	0.0033	0.0004	0.363	0.11807	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.033184	0.999579	0.81001	D	1.72	0.44442	L	-1.58	0.85943	D	-0.87	0.24026	N	0.128	0.22357	-0.8191	0.53990	T	0.265	0.63620	T	10	0.0036062598	0.00065	T	.	.	.	0.270	0.58507	.	.	0.279809986126	0.27602	0.9266416581008537	0.92642	0.348132503314	0.36690	0.704056560993	0.67731	T	0.009837	0.08928	T	-0.321687	0.06761	T	-0.220577	0.52681	T	0.0232920394105379	0.01058	T	0.784022	0.45571	T	0.14268735	0.32826	0.16775966	0.38685	0.13703619	0.31744	0.16775966	0.38684	-6.76	0.52261	T	0.11226471401842072	0.09693	0.213	0.45061	B	.;.;.	.;.;.	2.366926	0.30367	18.41	0.81531964374141641	0.13732	0.90964	0.52596	D	AEFBI	0.341566	0.43801	N	-0.418070444047912	0.24835	1.343863	-0.227477066028421	0.30555	1.721442	0.993419501311954	0.33206	0.50712	0.20391	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	6.08	2.41	0.28644	3.836000	0.55516	4.988000	0.46508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.192:0.0:0.808	9.917	0.40610	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	26	chr8	42856374	.	T	C	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=642;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=1.13;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	43056380	43056380	C	G	exonic	FNTA	.	nonsynonymous SNV	FNTA:NM_002027:exon1:c.C34G:p.Q12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.262271168621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	1.0	0.20037	T	0.0	0.02946	B	0.0	0.01387	B	0.550207	0.05365	N	1.261940	1	0.08975	N	0	0.06538	N	.	.	.	0.0	0.07008	N	0.108	0.09349	-1.0201	0.23682	T	0.042	0.17910	T	9	0.047077805	0.03980	T	0.262271	0.89555	D	0.019	0.03383	0.182	0.09004	0.110392049598	0.10638	0.11584420035500075	0.11512	0.233437321489	0.25874	0.711760163307	0.68849	T	0.044843	0.26939	T	-0.27477	0.11231	T	-0.632464	0.10229	T	0.071352942414534	0.08840	T	0.467953	0.13790	T	0.07267267	0.16183	0.068980835	0.14474	0.07267267	0.16183	0.068980835	0.14474	-2.207	0.04074	T	.	.	0.059	0.01909	B	.;.	.;.	1.351334	0.17589	13.25	0.53600304321281922	0.04971	0.27840	0.23389	N	AEFGBHCIJ	0.028039	0.02397	N	-1.13517940010874	0.06028	0.2763915	-1.14396127706646	0.06877	0.332534	0.999999999999477	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	-2.17	0.06663	0.026000	0.13490	1.208000	0.24886	0.526000	0.24426	0.013000	0.18845	0.564000	0.25536	0.228000	0.22680	0.1142:0.358:0.4502:0.0776	6.714	0.22480	422	0.81333	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	466.33	33	chr8	43056380	.	C	G	466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.203;SOR=0.52	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,858	18	0	1	0
chr8	43056536	43056536	G	A	exonic	FNTA	.	nonsynonymous SNV	FNTA:NM_002027:exon1:c.G190A:p.V64I	.	424	1097	1	0	0	1	0.000455581	.	.	.	711543	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0012	0.00638978	0.0044	0.0090	0.0010	0	0	0	0	0.0135	0.0013907	215	154602	rs143321089	0.0007	0.0007	0.0005	0.0009	0.0100	0.0007	0.0007	0.0094	0.0091	0.0051	0.0005	4.278e-05	0	0	0	2.071e-05	0.0009	0.0100	0.0020	0.0020	0.0018	0.0022	0.0110	0.0018	0.0017	0.0086	0.0078	0.0057	0	0.0005	0	0.0002	0	0	2.942e-05	0.0019	0.0110	0.326	0.13306	T	0.409	0.14588	T	0.009	0.15093	B	0.005	0.11217	B	0.012769	0.29061	N	0.348578	0.986371	0.40422	D	1.01	0.25309	L	.	.	.	-0.44	0.14588	N	0.181	0.19593	-1.0482	0.14903	T	0.073	0.29610	T	9	0.00494951	0.00106	T	.	.	.	0.074	0.21613	.	.	0.236619781664	0.23270	0.21473646385118603	0.21389	0.175329978969	0.19739	0.804841518402	0.82700	D	0.065055	0.32592	T	-0.429557	0.01491	T	-0.380411	0.35674	T	0.0478625340700788	0.05119	T	0.761624	0.38671	T	0.24710323	0.47685	0.20496684	0.44645	0.24710323	0.47685	0.20496684	0.44644	-4.0	0.23804	T	.	.	0.101	0.17700	B	.	.	3.310280	0.45477	22.1	0.99326898883490389	0.59622	0.48409	0.28200	N	AEFDGBHCI	0.272570	0.38817	N	-0.231548984104588	0.31845	1.789833	-0.068389692913893	0.36706	2.139543	0.999999999999929	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.38	4.38	0.52019	3.153000	0.50383	9.344000	0.80241	0.590000	0.31872	0.999000	0.42656	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	12.422	0.54859	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001609	0.000000	0.001374	0.000000	0.000000	0.000000	0.003356	0.003968	0.02632	605.33	33	chr8	43056536	.	G	A	605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.147;DP=686;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.703;SOR=0.529	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1160	18	0	1	0
chr8	43122830	43122830	G	A	exonic	POMK	.	nonsynonymous SNV	POMK:NM_001277971:exon4:c.G1006A:p.D336N,POMK:NM_032237:exon5:c.G1006A:p.D336N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	458519	not_specified|POMK-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12|Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency|not_provided	MedGen:CN169374|.|MONDO:MONDO:0014101,MedGen:C3808964,OMIM:615249,Orphanet:899|MONDO:MONDO:0014489,MedGen:C4015184,OMIM:616094,Orphanet:445110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.013	.	0.0021	0.00638978	0.0020	0.0072	0.0004	0	0	0	0.0011	0.0096	0.0017852	276	154602	rs113361507	0.0008	0.0008	0.0006	0.0010	0.0093	0.0007	0.0007	0.0088	0.0086	0.0064	0.0007	3.827e-05	0	0	0	1.888e-05	0.0010	0.0093	0.0025	0.0025	0.0024	0.0026	0.0110	0.0023	0.0022	0.0086	0.0078	0.0075	0	0.0007	0	0.0002	0	0	2.941e-05	0.0024	0.0110	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.291944	0.14752	N	0.717385	1	0.08975	N	-1.295	0.00719	N	2.32	0.16640	T	0.92	0.01573	N	0.051	0.02272	-0.9419	0.42314	T	0.008	0.02884	T	9	0.0036479235	0.00067	T	.	.	.	0.013	0.01715	.	.	0.198526703765	0.19489	0.18540545492157906	0.18458	0.0792943746669	0.08922	0.236800760031	0.02510	T	0.002432	0.01826	T	-0.741909	0.00020	T	-0.831655	0.01233	T	0.000383446154512904	0.00003	T	0.689931	0.29934	T	0.019191071	0.00446	0.026103878	0.00682	0.016460376	0.00199	0.027933665	0.00986	-3.462	0.15904	T	0.07469936892524894	0.03261	0.061	0.01161	B	.;.	.;.	0.065661	0.04751	1.377	0.5333893730464363	0.04920	0.00733	0.03071	N	AEFDBI	0.022066	0.01057	N	-1.49613714769281	0.01877	0.08234559	-1.43331240689595	0.02924	0.1354624	0.0017348174753602	0.08828	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	-0.121	0.12875	0.966000	0.28929	1.575000	0.27440	-0.851000	0.02709	0.000000	0.06391	0.015000	0.20450	0.090000	0.17789	0.3603:0.4668:0.1729:0.0	5.853	0.17957	467	0.78285	Protein kinase domain;Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1149.33	40	chr8	43122830	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=736;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.355;SOR=1.244	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr8	43159044	43159044	C	T	exonic	HGSNAT	.	nonsynonymous SNV	HGSNAT:NM_001363227:exon4:c.C493T:p.P165S,HGSNAT:NM_001363228:exon4:c.C493T:p.P165S,HGSNAT:NM_152419:exon4:c.C493T:p.P165S	Mucopolysaccharidosis type IIIC (Sanfilippo C), Autosomal recessive;Retinitis pigmentosa 73, Autosomal recessive	0	1514	8	0	0	8	0.00263505	0.9585	0.714	YES	899648	Mucopolysaccharidosis,_MPS-III-C|not_provided|Retinal_dystrophy|Retinitis_pigmentosa_73	MONDO:MONDO:0009657,MedGen:C0086649,OMIM:252930,Orphanet:581,Orphanet:79271|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0014687,MedGen:C4225287,OMIM:616544,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.703	.	.	.	8.33e-05	0.0001	8.767e-05	0.0001	0	7.523e-05	0	0.0001	7.12e-05	11	154602	rs371273730	7.393e-05	7.388e-05	5.857e-05	8.945e-05	0.0007	6.253e-05	5.811e-05	0.0002	0.0001	0.0003	6.741e-05	7.66e-05	0.0001	0	0.0007	5.938e-05	8.288e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.238e-05	0.0003	0.0002	0.0003	0	0.0005	0	0.0002	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.056745	1	0.81001	D	.	.	.	-3.72	0.95422	D	-6.67	0.92346	D	0.714	0.71676	0.989	0.97007	D	0.900	0.96675	D	10	0.8813038	0.87442	D	0.382511	0.93004	D	0.703	0.89330	.	.	0.929630812274	0.92891	0.8456842941324404	0.84529	0.470913154045	0.46357	0.432508409023	0.29552	T	.	.	.	0.182487	0.72271	D	0.288782	0.87596	D	0.457672581617127	0.31080	T	0.671133	0.27986	T	.	.	.	.	.	.	.	.	-8.722	0.65890	D	.	.	0.399	0.59533	A	.	.	5.289576	0.88810	29.7	0.99908500115591303	0.97875	0.90976	0.52619	D	AEFBI	0.667682	0.63572	D	0.623508672321141	0.74662	6.171238	0.591835306753027	0.74350	6.122631	0.997678061929211	0.35891	0.706548	0.73137	0	0.708844	0.79440	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.113000	0.57593	4.050000	0.41500	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	15.005	0.71165	478	0.77585	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	841.33	33	chr8	43159044	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=787;ExcessHet=0;FS=4.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0.445;SOR=0.342	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr8	47889113	47889113	T	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon33:c.A4181T:p.H1394L,PRKDC:NM_006904:exon33:c.A4181T:p.H1394L	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00455601432967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.46862	T	0.004	0.12183	B	0.009	0.14300	B	0.065911	0.21847	N	0.488214	0.996429	0.23019	N	2.35	0.67516	M	.	.	.	.	.	.	0.322	0.36779	-0.9836	0.34164	T	0.010	0.03673	T	10	0.20632291	0.36890	T	0.004556	0.11220	T	0.051	0.14325	0.379	0.39482	0.580710594535	0.57741	0.3402842721593778	0.33941	0.291602179089	0.31565	0.273332297802	0.06580	T	0.323262	0.69419	T	-0.0909626	0.37916	T	-0.368438	0.37071	T	0.15272630751133	0.17318	T	0.871013	0.58632	D	0.13452628	0.31253	0.09191312	0.21635	0.13452628	0.31253	0.09191312	0.21635	-2.125	0.03692	T	0.5362254447385483	0.60646	0.109	0.20972	B	.;.	.;.	1.293217	0.16940	12.86	0.88718610943006426	0.18200	0.84927	0.44023	D	AEFDBCI	0.254639	0.37391	N	-0.609122320915305	0.18669	0.9711187	-0.602668142590879	0.19424	1.042077	0.0180888612839171	0.13020	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	-0.347	0.11990	1.364000	0.33775	-0.214000	0.10826	0.665000	0.62972	0.992000	0.37556	0.412000	0.24764	0.494000	0.28882	0.0:0.1274:0.0:0.8726	10.385	0.43315	549	0.72275	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3590.81	33	chr8	47889113	.	T	A	3590.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.92;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	18	1	0	0
chr8	47966202	47966202	T	C	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon8:c.T848C:p.I283T,MCM4:NM_182746:exon9:c.T848C:p.I283T	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	899707	Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency|not_provided	MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.542	0.062150385899	0.0005	0.000399361	0.0008	0	0.0003	0	0	0.0012	0	0.0005	0.0007438	115	154602	rs149232439	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	0.0001	0.0003	0	0	3.752e-05	0.0035	0.0006	0.0007	0.0007	0.0005	0.0005	0.0005	0.0006	0.0013	0.0005	0.0004	0.0009	0.0007	0.0001	0	0.0013	0	0	0	0.0034	0.0007	0.0005	0.0012	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.951	0.68939	D	0.000000	0.84330	D	0.041854	1	0.81001	D	2.92	0.84325	M	3.39	0.05710	T	-4.26	0.76174	D	0.97	0.98563	-1.0737	0.08619	T	0.074	0.29834	T	10	0.18772021	0.34296	T	0.06215	0.68562	D	0.542	0.80901	.	.	0.439763647824	0.43599	0.7547359207215868	0.75420	0.563519734359	0.52780	0.880246162415	0.93994	D	0.301128	0.67359	T	-0.0621376	0.42571	T	0.097434	0.76737	D	0.118964632914876	0.14328	T	0.941906	0.93484	D	0.8738492	0.89168	0.80719835	0.88722	0.8738492	0.89169	0.80719835	0.88723	-10.144	0.74769	D	0.5346669223398626	0.60509	0.712	0.74363	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.719434	0.75895	26.4	0.9978155322729827	0.86867	0.97930	0.78210	D	AEFDGBCI	0.917534	0.88528	D	0.840267493235919	0.88546	9.619494	0.797408087815373	0.89612	10.04759	0.999999999999968	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.340000	0.78530	7.872000	0.72015	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.124	0.81187	542	0.72843	.;.;MCM OB domain;.;MCM OB domain;MCM OB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1735.33	33	chr8	47966202	.	T	C	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.431;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.304;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr8	50450727	50450727	G	C	exonic	SNTG1	.	nonsynonymous SNV	SNTG1:NM_001287814:exon7:c.G361C:p.V121L,SNTG1:NM_001321773:exon7:c.G361C:p.V121L,SNTG1:NM_001321777:exon7:c.G361C:p.V121L,SNTG1:NM_001321776:exon8:c.G361C:p.V121L,SNTG1:NM_001321778:exon8:c.G361C:p.V121L,SNTG1:NM_018967:exon8:c.G361C:p.V121L,SNTG1:NM_001287813:exon9:c.G361C:p.V121L,SNTG1:NM_001321775:exon9:c.G361C:p.V121L	.	472	1045	5	0	0	5	0.00238663	0.8942	0.77	.	3220327	SNTG1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.304	0.0101547635181	0.0018	0.00139776	0.0013	0.0005	0.0018	0	0.0002	0.0020	0.0011	0	0.0013648	211	154602	rs138262840	0.0019	0.0019	0.0019	0.0018	0.0039	0.0018	0.0018	0.0026	0.0022	0.0003	0.0017	0.0011	0	0.0003	0.0039	0.0022	0.0023	1.161e-05	0.0017	0.0017	0.0017	0.0016	0.0029	0.0015	0.0014	0.0025	0.0024	0.0005	0	0.0014	0.0017	0	0.0002	0.0272	0.0029	0.0014	0.0002	0.017	0.54683	D	0.022	0.59732	D	0.92	0.90584	P	0.956	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	0.92	0.44461	T	-2.13	0.48354	N	0.656	0.66873	-0.6256	0.63756	T	0.203	0.55961	T	10	0.018587768	0.00406	T	0.010155	0.26346	T	0.304	0.62510	0.726	0.86024	0.52297913765	0.51942	0.631178770529204	0.63051	0.197018668486	0.22071	0.86156386137	0.91342	D	0.028215	0.20489	T	-0.244918	0.14729	T	-0.128262	0.61117	T	0.0296397557293068	0.01935	T	0.945305	0.80045	D	0.43657687	0.63181	0.44279024	0.67517	0.43657687	0.63182	0.44279024	0.67517	-14.884	0.95575	D	.	.	0.965	0.90719	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.491568	0.91489	32	0.99844877158399603	0.92489	0.96486	0.69378	D	AEFBI	0.733120	0.67966	D	0.798428448630151	0.86006	8.749569	0.779947501593349	0.88365	9.555206	0.195679611732712	0.18055	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	6.579000	0.73923	11.654000	0.93914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.670	0.85122	884	0.28482	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004536	0.010101	0.002717	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	1064.33	86	chr8	50450727	.	G	C	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=793;ExcessHet=0;FS=4.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.31;SOR=1.42	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1415	18	0	1	0
chr8	51654731	51654731	A	T	exonic	PXDNL	.	nonsynonymous SNV	PXDNL:NM_144651:exon2:c.T194A:p.I65N	.	.	.	.	.	.	.	.	.	.	.	711569	not_provided|PXDNL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.408	.	0.0029	0.00319489	0.0009	0.0110	0.0003	0	0	1.511e-05	0	0	0.0008797	136	154602	rs115225788	0.0003	0.0003	0.0004	0.0003	0.0118	0.0003	0.0003	0.0108	0.0105	0.0118	0.0005	0	0	0	0.0007	4.498e-06	0.0006	8.117e-05	0.0031	0.0031	0.0033	0.0029	0.0108	0.0028	0.0028	0.0100	0.0097	0.0108	0	0.0008	0	0	0	0	0	0.0028	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.673545	0.30343	N	3.52	0.92970	H	-0.18	0.65747	T	-4.1	0.74900	D	0.729	0.73015	0.083	0.83860	D	0.459	0.78975	T	9	0.024210155	0.00658	T	.	.	.	0.408	0.72022	.	.	0.751293006959	0.74904	0.7671922620667518	0.76668	0.726489316092	0.62513	0.650667309761	0.60080	T	0.212588	0.57368	T	-0.301814	0.08490	T	-0.195924	0.55033	T	0.0491021495188678	0.05341	T	0.89781	0.64256	D	0.6302004	0.74309	0.61382145	0.77526	0.6302004	0.74310	0.61382145	0.77527	-15.901	0.97609	D	.	.	0.891	0.82188	P	.	.	4.004147	0.59023	24.0	0.99433704972514148	0.64374	0.69248	0.34113	D	AEFCIJ	0.334878	0.43350	N	0.739782303848229	0.82237	7.713633	0.604628043038592	0.75277	6.281909	4.31936365956768E-4	0.06970	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	2.198000	0.42339	4.551000	0.43803	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	10.163	0.42038	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1384.33	35	chr8	51654731	.	A	T	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=739;ExcessHet=0;FS=7.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.284;SOR=0.896	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr8	51898961	51898961	C	G	exonic	PCMTD1	.	nonsynonymous SNV	PCMTD1:NM_001286782:exon1:c.G151C:p.A51P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0233226644068	.	0.000199681	0.0002	0	0	0	.	0.0007	0	0	1.29e-05	2	154602	rs547435060	8.26e-06	7.524e-06	5.918e-06	1.067e-05	3.298e-05	4.43e-06	3.24e-06	7.6e-07	2.1e-07	0	0	0.0002	3.298e-05	0	0	2.845e-06	3.597e-05	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0.0002	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.699	0.41837	P	0.307	0.41295	B	.	.	.	.	1	0.19486	N	.	.	.	0.84	0.47477	T	-0.71	0.20145	N	0.2	0.22098	-1.0081	0.27510	T	0.088	0.34105	T	8	0.03554818	0.01809	T	0.023323	0.46274	T	0.010	0.01040	0.25	0.18757	0.347217280506	0.34334	.	.	.	.	.	.	.	0.011706	0.10405	T	-0.312759	0.07508	T	-0.604168	0.12463	T	0.19812947511673	0.20312	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.	.	0.974033	0.13511	10.03	0.69495346001433367	0.08991	0.00840	0.03368	N	AEFGBHCIJ	0.079819	0.16128	N	-0.712402352632135	0.15672	0.791906	-0.912766309966959	0.11792	0.6029287	0.999996948813027	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.69	-0.267	0.12298	-0.460000	0.06797	-2.095000	0.04221	-0.382000	0.05385	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.236:0.4799:0.0:0.2841	2.431	0.04199	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	303.33	36	chr8	51898961	.	C	G	303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=631;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=2.03;SOR=0.465	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,900	18	0	1	0
chr8	52645747	52645747	A	T	exonic	RB1CC1	.	nonsynonymous SNV	RB1CC1:NM_001083617:exon16:c.T3942A:p.N1314K,RB1CC1:NM_014781:exon16:c.T3942A:p.N1314K	Breast cancer, somatic	55	1450	13	4	0	21	0.00718932	.	.	.	711575	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	.	0.0072	0.00439297	0.0069	0.0014	0.0038	0.0035	0.0037	0.0089	0.0078	0.0077	0.0069857	1080	154602	rs34701924	0.0091	0.0091	0.0092	0.0090	0.0102	0.0089	0.0089	0.0100	0.0099	0.0014	0.0037	0.0026	0.0041	0.0046	0.0056	0.0102	0.0080	0.0086	0.0062	0.0062	0.0068	0.0057	0.0103	0.0059	0.0058	0.0097	0.0094	0.0017	0.0011	0.0053	0.0012	0.0015	0.0040	0.0034	0.0103	0.0038	0.0070	0.067	0.35918	T	0.116	0.36497	T	0.999	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.1	0.28011	L	2.32	0.16640	T	-1.2	0.30555	N	0.635	0.64818	-1.0719	0.09001	T	0.043	0.18659	T	10	0.007832736	0.00178	T	.	.	.	0.155	0.40530	0.097	0.01334	0.509732891599	0.50613	0.4158990944525784	0.41505	0.717652907865	0.62052	0.761815488338	0.76199	T	0.401141	0.75853	T	-0.57514	0.00206	T	-0.588537	0.13792	T	0.013866111623155	0.00263	T	0.968503	0.88585	D	0.14467266	0.33196	0.17277671	0.39557	0.1583048	0.35621	0.17277671	0.39556	-3.16	0.11998	T	.	.	0.647	0.73963	P	.;.	.;.	2.948549	0.39226	20.9	0.99748730660268203	0.84077	0.86158	0.45386	D	AEFGBI	0.244300	0.36543	N	0.15688929037468	0.49139	3.11764	0.172542443367372	0.48347	3.051945	0.86274803309782	0.25258	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	0.357000	0.19935	1.284000	0.25370	-0.053000	0.16966	0.993000	0.37899	0.997000	0.33255	0.996000	0.76049	0.8596:0.0:0.1404:0.0	10.089	0.41607	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.005051	0.001359	0.005848	0.000000	0.000000	0.012270	0.003788	0.02632	629.33	36	chr8	52645747	.	A	T	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=679;ExcessHet=0;FS=0.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.834;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	0	1	0
chr8	52940047	52940047	T	C	exonic	NPBWR1	.	nonsynonymous SNV	NPBWR1:NM_005285:exon2:c.T140C:p.I47T	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.0389407304028	0.0022	0.000599042	0.0017	0.0003	0.0003	0	0.0003	0.0024	0	0.0023	0.0016171	250	154602	rs138848391	0.0026	0.0026	0.0026	0.0026	0.0031	0.0025	0.0025	0.0030	0.0030	0.0004	0.0004	7.658e-05	0	0.0006	0.0005	0.0031	0.0016	0.0023	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0024	0.0023	0.0005	0	0.0009	0	0	0.0002	0	0.0027	0.0009	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.898	0.63708	P	0.000054	0.53742	D	0.000000	0.999999	0.58761	D	1.495	0.37439	L	0.95	0.43279	T	-3.06	0.63090	D	0.869	0.86618	-0.8656	0.50856	T	0.115	0.40897	T	10	0.11918974	0.22551	T	0.038941	0.58518	D	0.429	0.73590	.	.	0.744357315684	0.74205	0.43409411505032774	0.43326	0.54887571343	0.51811	0.919673144817	0.98298	D	0.363285	0.72906	T	-0.0688578	0.41510	T	0.124323	0.78520	D	0.0704486593188789	0.08714	T	0.725427	0.33942	T	0.65220183	0.75482	0.74982065	0.85212	0.65220183	0.75483	0.74982065	0.85213	-4.844	0.35100	T	.	.	0.875	0.81176	P	.	.	3.992713	0.58778	24.0	0.99772180147327316	0.86003	0.98724	0.86044	D	AEFDBHCI	0.847692	0.76454	D	0.459489097966039	0.64744	4.735893	0.504894010642126	0.68318	5.203713	0.999999999994188	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.74	4.74	0.59717	7.690000	0.83452	4.714000	0.44471	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.397	0.66584	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	45	chr8	52940047	.	T	C	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=843;ExcessHet=0;FS=4.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.008;SOR=0.657	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1450	18	0	1	0
chr8	52940871	52940871	A	T	exonic	NPBWR1	.	nonsynonymous SNV	NPBWR1:NM_005285:exon2:c.A964T:p.I322L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.011672118699	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780421755	6.867e-07	6.84e-07	0	1.381e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	6.578e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.270776	0.03771	N	1.637940	0.989459	0.24293	N	-0.93	0.01295	N	1.61	0.28391	T	0.74	0.02038	N	0.058	0.02964	-1.0022	0.29284	T	0.024	0.10194	T	10	0.045171797	0.03556	T	0.011672	0.29526	T	0.055	0.15663	0.6	0.73105	0.295623431141	0.29171	0.1362472961606659	0.13548	0.36411185379	0.38027	0.371832549572	0.21095	T	0.033811	0.23067	T	-0.339575	0.05417	T	-0.725552	0.04532	T	0.0326358058848119	0.02410	T	0.332267	0.06988	T	0.05189278	0.09598	0.047536805	0.06869	0.05189278	0.09598	0.047536805	0.06869	0.458	0.00222	T	.	.	0.066	0.02257	B	.	.	-0.644649	0.01454	0.088	0.72972195653503236	0.10161	0.34275	0.25029	N	ALL	0.096500	0.19480	N	-1.22331715317553	0.04664	0.2109554	-1.11990525971418	0.07320	0.3556178	0.999998890042965	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.66	0.155	0.14200	-1.107000	0.03427	-2.466000	0.03719	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.250000	0.23263	0.2461:0.3017:0.3588:0.0934	3.260	0.06440	904	0.23766	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	40	chr8	52940871	.	A	T	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.25;DP=773;ExcessHet=0;FS=9.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.164;SOR=1.863	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr8	53811171	53811171	G	A	exonic	ATP6V1H	.	nonsynonymous SNV	ATP6V1H:NM_015941:exon7:c.C572T:p.S191L,ATP6V1H:NM_213620:exon7:c.C572T:p.S191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00368913772859	.	0.000399361	4.947e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs576327305	1.575e-05	1.573e-05	1.226e-05	1.926e-05	0.0003	1.049e-05	8.76e-06	0.0001	0.0001	0	0	0	0	1.873e-05	0.0003	8.999e-07	1.657e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.156	0.26085	T	0.227	0.25362	T	0.0	0.02946	B	0.001	0.04355	B	0.001649	0.38382	N	0.286484	0.999715	0.81001	D	0	0.06538	N	.	.	.	-0.66	0.19085	N	0.33	0.37093	-1.0242	0.22344	T	0.122	0.42441	T	9	0.08694765	0.14830	T	0.003689	0.08527	T	0.078	0.22779	0.492	0.57890	0.462111473445	0.45839	0.12080178653282617	0.12007	0.229102546362	0.25472	0.513204276562	0.40670	T	0.12107	0.44376	T	-0.24273	0.15003	T	-0.294293	0.45325	T	0.256279713508656	0.23151	T	0.959804	0.84855	D	0.123047374	0.28901	0.10573096	0.25422	0.123047374	0.28901	0.10573096	0.25421	-3.617	0.18103	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	4.317837	0.66058	24.9	0.99701177214089487	0.80660	0.99567	0.97521	D	AEFDBI	0.897971	0.84073	D	0.0142074355150678	0.42500	2.561979	0.246440889709412	0.52448	3.419479	0.999999998385064	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.38	5.38	0.77279	8.545000	0.90462	11.888000	0.99015	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.120	0.89499	822	0.40702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	34	chr8	53811171	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.038;DP=733;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.212;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	18	0	1	0
chr8	53881043	53881045	GCC	-	exonic	RGS20	.	nonframeshift deletion	RGS20:NM_003702:exon1:c.28_30del:p.A10del	.	360	1161	1	0	0	1	0.000430478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0114	0.0071885	0.0027	0.0347	0.0035	0	0	2.623e-05	0	9.078e-05	0.000461	12	26028	rs201945532	0.0007	0.0007	0.0009	0.0006	0.0267	0.0007	0.0007	0.0252	0.0246	0.0267	0.0016	0	0	0	0.0017	1.091e-05	0.0018	3.697e-05	0.0063	0.0063	0.0063	0.0064	0.0226	0.0060	0.0059	0.0214	0.0209	0.0226	0	0.0010	0	0	0	0	5.891e-05	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1228.29	42	chr8	53881042	.	GGCC	G	1228.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=815;ExcessHet=0;FS=14.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.269;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:69:.:.:0,69,986:.	18	0	1	0
chr8	53939619	53939619	C	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon2:c.C209A:p.P70H,RGS20:NM_003702:exon2:c.C113A:p.P38H,RGS20:NM_170587:exon3:c.C554A:p.P185H	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0334402456084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs998171987	2.066e-05	2.326e-05	1.779e-05	2.356e-05	0.0012	1.465e-05	1.272e-05	0.0006	0.0004	0	2.314e-05	0	0	0	0.0012	1.083e-05	5.009e-05	8.294e-05	1.97e-05	1.968e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.536e-05	0	0	0	0	1.47e-05	0	0.0002	0.013	0.53900	D	0.05	0.48080	T	0.899	0.51791	P	0.336	0.48765	B	0.000001	0.00162	N	19.212200	1	0.81001	D	0.55	0.14455	N	1.11	0.38883	T	-2.07	0.47344	N	0.285	0.38950	-0.8648	0.50915	T	0.140	0.45960	T	10	0.2159681	0.38165	T	0.03344	0.54981	D	0.125	0.34456	0.131	0.03577	0.814979240977	0.81323	0.23465468153339808	0.23380	0.748255062631	0.63626	0.343361765146	0.16940	T	0.201085	0.55886	T	-0.401006	0.02281	T	-0.549366	0.17387	T	0.315703898668289	0.25647	T	0.846715	0.52823	T	0.16744736	0.37142	0.11100707	0.26772	0.16744736	0.37142	0.11100707	0.26771	-3.74	0.32583	T	.	.	0.118	0.23986	B	.;.;.	.;.;.	2.053233	0.26105	17.00	0.99370034408435448	0.61411	0.85075	0.44178	D	AEFDBI	0.391387	0.46985	N	-0.187543499028085	0.33653	1.911665	-0.279253698820394	0.28783	1.607485	0.999945876568853	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.89	3.03	0.34070	3.056000	0.49616	1.789000	0.28782	0.599000	0.40250	0.888000	0.31154	0.004000	0.18990	0.001000	0.02609	0.0:0.6832:0.3168:0.0	13.987	0.63854	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005102	0.001359	0.000000	0.000000	0.008621	0.003067	0.000000	0.02632	628.33	35	chr8	53939619	.	C	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.204;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	18	0	1	0
chr8	54459229	54459229	C	T	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.C479T:p.A160V	Vesicoureteral reflux 3, Autosomal dominant	2	1476	44	0	0	44	0.0146862	.	.	.	711581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	0.0024	0.00119808	0.0096	0.0011	0.0038	0	0.0042	0.0119	0.0177	0.0117	0.0038227	591	154602	rs200011294	0.0059	0.0057	0.0056	0.0061	0.0112	0.0058	0.0057	0.0106	0.0104	0.0008	0.0015	0.0078	2.965e-05	0.0028	0.0082	0.0060	0.0062	0.0112	0.0038	0.0038	0.0041	0.0035	0.0079	0.0035	0.0034	0.0059	0.0053	0.0011	0	0.0019	0.0075	0.0002	0.0024	0.0137	0.0059	0.0028	0.0079	0.165	0.23271	T	0.212	0.26549	T	0.003	0.11197	B	0.004	0.10090	B	0.056805	0.22530	N	0.459900	0.941068	0.26790	N	1.65	0.42232	L	-4.31	0.97195	D	-1.62	0.38924	N	0.088	0.06587	-0.1919	0.77880	T	0.696	0.89514	D	10	0.0062076747	0.00140	T	.	.	.	0.282	0.59981	.	.	0.612969470845	0.60985	0.3042132094351527	0.30334	0.994442852955	0.74171	0.781738877296	0.79190	T	0.497817	0.81953	T	-0.386289	0.02842	T	-0.318259	0.42765	T	0.00651151177596151	0.00073	T	0.661834	0.27067	T	0.03865075	0.05189	0.0676886	0.14038	0.040026456	0.05637	0.0676886	0.14038	-6.272	0.48500	T	0.2399140830995001	0.32497	0.103	0.18456	B	.	.	1.875178	0.23817	16.16	0.98841066517633036	0.47119	0.87261	0.46747	D	AEFDBHCI	0.637359	0.61617	D	-0.786852546135638	0.13652	0.6740818	-0.676008962276269	0.17561	0.9343258	0.999999669968903	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	3.93	2.03	0.25714	1.542000	0.35742	3.048000	0.36109	-0.384000	0.05376	0.008000	0.17931	0.995000	0.32472	0.769000	0.36481	0.1588:0.5981:0.1542:0.0889	4.299	0.10359	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009137	0.005319	0.008197	0.002924	0.000000	0.008621	0.012422	0.019084	0.02632	785.33	33	chr8	54459229	.	C	T	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=719;ExcessHet=0;FS=4.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.653;SOR=1.247	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1452	18	0	1	0
chr8	54621385	54621385	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_001375654:exon2:c.A419G:p.H140R,RP1:NM_006269:exon2:c.A419G:p.H140R	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	736711	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00172861104252	0.0008	0.00179712	0.0003	0.0041	0.0003	0	0	0	0	0	0.0003299	51	154602	rs147736171	8.353e-05	8.345e-05	0.0001	5.643e-05	0.0027	7.142e-05	6.69e-05	0.0022	0.0020	0.0027	0.0002	0	0	0	0	3.598e-06	0.0003	2.319e-05	0.0007	0.0007	0.0007	0.0006	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0	0	0	1.478e-05	0	0	0.399	0.10517	T	0.407	0.14679	T	0.0	0.02946	B	0.0	0.01387	B	0.001392	0.00778	N	3.066800	1	0.08975	N	0.06	0.08197	N	2.16	0.19166	T	0.44	0.03243	N	0.052	0.02366	-1.0303	0.20357	T	0.015	0.06042	T	10	0.0071212947	0.00162	T	0.001729	0.02908	T	0.006	0.00375	.	.	0.115124310173	0.11017	0.45026884226610303	0.44944	0.0317804330332	0.03293	0.428357303143	0.28985	T	0.044243	0.26755	T	-0.747389	0.00018	T	-0.849713	0.00963	T	0.00708355975208803	0.00081	T	0.468553	0.14445	T	0.027204838	0.01880	0.033108365	0.02151	0.027204838	0.01880	0.033108365	0.02151	-1.203	0.01255	T	0.06783553257658162	0.02417	0.064	0.09578	B	.;.;.	.;.;.	-1.084453	0.00659	0.018	0.31428755457772994	0.01771	0.00162	0.00966	N	AEFDBI	0.015792	0.00319	N	-1.63326871100237	0.01107	0.04808181	-1.66796807866026	0.01286	0.05798738	0.00462361632120524	0.10646	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.49	-4.38	0.03371	-0.805000	0.04636	-1.868000	0.04583	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0837:0.0925:0.731:0.0928	5.071	0.13943	818	0.41518	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1074.33	34	chr8	54621385	.	A	G	1074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.342;DP=700;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-1.887;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1352	18	0	1	0
chr8	56113883	56113883	G	T	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.C100A:p.L34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.101259548939	.	.	4.317e-05	0	0	0	0	1.577e-05	0	0.0002	3.23e-05	5	154602	rs773891252	2.627e-05	2.668e-05	2.203e-05	3.055e-05	0.0001	1.953e-05	1.71e-05	8.155e-05	6.36e-05	0	0	0	0	0	0	2.075e-05	5.027e-05	0.0001	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.093	0.31532	T	0.171	0.30339	T	0.947	0.53479	P	0.556	0.49411	P	0.256420	0.15402	U	0.511992	1	0.08975	N	2.255	0.64187	M	-1.52	0.81478	D	-0.16	0.09460	N	0.251	0.28381	-0.4500	0.70400	T	0.414	0.76122	T	10	0.18871665	0.34439	T	0.10126	0.77403	D	0.230	0.53062	.	.	0.819922135072	0.81822	0.2585832998720148	0.25772	1.39758405531	0.85125	0.482357412577	0.36382	T	0.306111	0.67833	T	-0.250683	0.14014	T	-0.328566	0.41628	T	0.252375096082687	0.22979	T	0.257674	0.04066	T	0.0972282	0.22915	0.09232672	0.21751	0.0972282	0.22915	0.09232672	0.21751	-5.924	0.45639	T	.	.	0.1	0.17146	B	.	.	2.786645	0.36622	20.3	0.99141007199463083	0.53546	0.13224	0.17734	N	AEFDBI	0.069100	0.13661	N	-0.0652588284198748	0.38923	2.287269	-0.173348174043337	0.32520	1.851001	0.986134421251214	0.31010	0.59774	0.34471	0	0.627178	0.54094	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	4.93	4.93	0.64394	0.621000	0.24112	5.556000	0.48906	0.672000	0.70159	0.433000	0.26432	1.000000	0.68203	0.035000	0.13729	0.0791:0.1401:0.6357:0.145	5.581	0.16531	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1203.33	35	chr8	56113883	.	G	T	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.432;DP=795;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.598;SOR=0.848	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1236	18	0	1	0
chr8	56441429	56441429	C	T	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.G647A:p.R216K	.	.	.	.	.	.	.	.	.	.	.	723154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.371	0.0287963615397	0.0012	0.000798722	0.0004	0.0042	0.0006	0	0	0	0	0	0.0003558	55	154602	rs142176507	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0043	0.0051	0.0002	0	0	1.879e-05	0	0	0.0003	1.159e-05	0.0014	0.0014	0.0013	0.0014	0.0047	0.0012	0.0012	0.0042	0.0040	0.0047	0	0.0008	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.885	0.83555	M	2.18	0.18875	T	-2.57	0.55501	D	0.828	0.83678	-0.8588	0.51348	T	0.172	0.51325	T	10	0.03092894	0.01222	T	0.028796	0.51417	D	0.371	0.69016	.	.	0.59966951432	0.59648	0.528909890695719	0.52814	0.261302931808	0.28679	0.858073115349	0.90826	D	0.689616	0.90963	D	-0.0849641	0.38906	T	0.105445	0.77269	D	0.0998446911252653	0.12340	T	0.813719	0.46699	T	0.72176164	0.79259	0.6448282	0.79237	0.72176164	0.79261	0.6448282	0.79238	-3.85	0.21553	T	.	.	0.822	0.78309	P	.;.	.;.	4.722672	0.75979	26.4	0.99784729843998021	0.87131	0.98286	0.81270	D	AEFDI	0.897457	0.83966	D	0.895284293181307	0.91527	10.92874	0.873379861699015	0.94306	12.658	0.999999998243328	0.74766	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	7.234000	0.77597	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:1.0:0.0:0.0	19.287	0.94064	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1264.33	37	chr8	56441429	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=772;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.1;SOR=0.9	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	18	0	1	0
chr8	58599301	58599301	G	A	exonic	NSMAF	.	nonsynonymous SNV	NSMAF:NM_001144772:exon19:c.C1609T:p.L537F,NSMAF:NM_003580:exon19:c.C1516T:p.L506F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.0747880068884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746860312	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.205	0.97843	H	-1.18	0.78314	T	-3.66	0.70067	D	0.917	0.91968	0.841	0.94921	D	0.804	0.93369	D	9	0.9285847	0.92202	D	0.074788	0.72129	D	0.518	0.79461	0.759	0.88811	0.95973034716	0.95930	0.7816406937153102	0.78115	0.85220986116	0.68590	0.652617931366	0.60357	T	0.945205	0.99169	D	0.226243	0.76364	D	0.170071	0.81414	D	0.997922599315643	0.92772	D	0.987126	0.95588	D	0.6763842	0.76775	0.61273766	0.77467	0.6763842	0.76776	0.61273766	0.77468	-10.539	0.77682	D	.	.	0.761	0.78094	P	.;.	.;.	5.395732	0.90374	31	0.9991623845645754	0.98449	0.99243	0.93340	D	AEFBI	0.884125	0.81356	D	1.13596104644896	0.98747	19.23873	1.05473690069557	0.99434	22.69125	0.999999999960787	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	20.879	0.99870	957	0.09725	BEACH domain|BEACH domain|BEACH domain|BEACH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	34	chr8	58599301	.	G	A	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=785;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-2.031;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	18	0	1	0
chr8	58659243	58659243	C	A	exonic	NSMAF	.	nonsynonymous SNV	NSMAF:NM_001144772:exon1:c.G104T:p.G35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00536975311703	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295436453	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.5	0.55608	T	0.5	0.02945	N	0.114	0.10198	-1.0462	0.15476	T	0.057	0.23866	T	8	0.059512615	0.07164	T	0.00537	0.13771	T	0.035	0.08770	0.233	0.16155	0.0884992946249	0.08302	0.14533580708851881	0.14456	0.902901504755	0.70704	0.695582270622	0.66506	T	.	.	.	-0.191576	0.22026	T	-0.512962	0.21010	T	0.422971785068512	0.29800	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.119	0.24599	B	.	.	0.616843	0.09851	6.615	0.98239798591720962	0.39467	0.01477	0.04919	N	AEFDBHCIJ	0.038700	0.05515	N	-1.47533841414821	0.02025	0.089001	-1.54714518106468	0.01995	0.09116801	0.999999999882408	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	1.7	-1.58	0.08029	-0.393000	0.07366	-0.380000	0.09547	-0.387000	0.05364	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.2591:0.3814:0.0:0.3595	2.018	0.03289	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	233.33	21	chr8	58659243	.	C	A	233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.853;SOR=0.665	GT:AD:DP:GQ:PL	0/0:30,0:30:87:0,87,1305	18	0	1	0
chr8	60742126	60742126	C	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.C694A:p.P232T,CHD7:NM_017780:exon2:c.C694A:p.P232T	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1520	2	0	0	2	0.000657462	.	.	YES	207550	CHD7-related_disorder|not_provided|not_specified|Inborn_genetic_diseases|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome	.|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	.	0.00259585	0.0016	0	8.643e-05	0	0	1.501e-05	0.0011	0.0116	0.0013842	214	154602	rs554647169	0.0008	0.0008	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	5.974e-05	0	0	2.519e-05	0	0.0007	2.338e-05	0.0012	0.0116	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	6.534e-05	0	0	0	0	1.47e-05	0.0005	0.0122	0.004	0.68238	D	0.309	0.92824	T	0.003	0.11197	B	0.004	0.10090	B	0.023819	0.26374	N	0.186268	0.992202	0.41789	D	0.695	0.17993	N	-1.56	0.81815	D	-1.0	0.35399	N	0.41	0.45047	-0.5779	0.65700	T	0.370	0.72970	T	10	0.008243531	0.00187	T	.	.	.	0.034	0.08419	0.264	0.20946	0.730123910085	0.72772	0.43617296287083984	0.43534	0.356084355675	0.37361	0.480574369431	0.36136	T	0.151964	0.49214	T	-0.312647	0.07517	T	-0.211484	0.53552	T	0.0189143794061425	0.00601	T	0.851815	0.56549	D	0.17363887	0.38123	0.09913729	0.23660	0.20563963	0.42712	0.103230685	0.24762	-5.248	0.39425	T	.	.	0.086	0.18869	B	.;.;.	.;.;.	3.178126	0.43127	21.7	0.99662376096281902	0.78011	0.89695	0.50325	D	AEFDGBCI	0.332680	0.43201	N	-0.297284841938691	0.29253	1.620611	-0.139673600678523	0.33807	1.93785	0.999996514139666	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.63	3.74	0.42108	2.541000	0.45394	2.602000	0.33527	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1515:0.8485:0.0:0.0	14.108	0.64636	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2415.33	39	chr8	60742126	.	C	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=832;ExcessHet=0;FS=3.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.33;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	60742450	60742450	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1018G:p.M340V,CHD7:NM_017780:exon2:c.A1018G:p.M340V	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1482	40	0	0	40	0.0133156	.	.	.	101670	not_provided|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0339114867738	0.0056	0.00219649	0.0042	0.0018	0.0027	0	0.0018	0.0063	0.0011	0.0013	0.0046118	713	154602	rs41305525	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0062	0.0073	0.0072	0.0011	0.0037	0.0091	2.519e-05	0.0022	0.0055	0.0074	0.0054	0.0010	0.0050	0.0050	0.0047	0.0053	0.0092	0.0047	0.0045	0.0079	0.0074	0.0011	0.0230	0.0092	0.0072	0	0.0022	0.0034	0.0071	0.0062	0.0012	0.08	0.38185	T	0.547	0.22561	T	0.0	0.02946	B	0.0	0.01387	B	0.000072	0.52346	D	0.000000	0.898011	0.37487	D	0.805	0.20218	L	-1.41	0.80560	T	-0.42	0.18459	N	0.598	0.61680	-0.6566	0.62426	T	0.238	0.60547	T	10	0.00827083	0.00188	T	0.033911	0.55311	D	0.323	0.64522	.	.	0.976595498363	0.97634	0.4353467972002826	0.43451	0.10439461914	0.11810	0.490928173065	0.37567	T	0.119051	0.44030	T	-0.161409	0.26543	T	0.00575872	0.70709	D	0.0103646805390991	0.00142	T	0.849815	0.54891	T	0.21582852	0.44026	0.19427694	0.43042	0.2614135	0.49200	0.23961963	0.49315	-5.88	0.45605	T	.	.	0.055	0.00524	B	.;.;.	.;.;.	2.315230	0.29642	18.19	0.93778370641130049	0.23734	0.78177	0.38532	D	AEFDGBCI	0.178216	0.30547	N	-0.179153468122502	0.34004	1.935703	0.0170262268929298	0.40506	2.418432	0.999995284942806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.67	4.5	0.54382	4.816000	0.62333	7.906000	0.73790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8644:0.1356:0.0:0.0	12.926	0.57656	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.015152	0.02632	1845.33	39	chr8	60742450	.	A	G	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=920;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.461;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	60838157	60838160	GGGT	-	exonic	CHD7	.	frameshift deletion	CHD7:NM_017780:exon19:c.4435_4438del:p.G1479Lfs*66	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.436e-06	8.414e-05	8.346e-06	8.527e-06	8.248e-06	4.5e-06	3.55e-06	3.88e-06	2.81e-06	0	0	0	0	0	0	8.248e-06	5.076e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	418.29	33	chr8	60838156	.	AGGGT	A	418.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.439;DP=1288;ExcessHet=0;FS=118.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.53;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:303,0:343:99:0|1:60838156_AGG_A:0,910,13238:60838156	18	0	1	0
chr8	60838160	60838160	-	CCCC	exonic	CHD7	.	frameshift insertion	CHD7:NM_017780:exon19:c.4438_4439insCCCC:p.K1481Pfs*2	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	3409206	CHARGE_syndrome	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	424.29	33	chr8	60838160	.	T	TCCCC	424.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.591;DP=1284;ExcessHet=0;FS=120.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=1.08;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:303,0:344:99:0|1:60838156_AGG_A:0,910,13238:60838156	18	0	1	0
chr8	60856055	60856055	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon33:c.G7017A:p.M2339I	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1521	1	0	0	1	0.000328623	.	.	.	834970	Inborn_genetic_diseases|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.333	0.0747461457691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247369056	5.482e-06	6.156e-06	5.452e-06	5.512e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	0	1.168e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.28395	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.000178	0.48594	D	0.213026	0.997374	0.81001	D	-0.345	0.03330	N	-1.35	0.80035	T	-0.29	0.11728	N	0.657	0.66700	-0.6243	0.63810	T	0.319	0.68848	T	10	0.3399675	0.51073	T	0.074746	0.72116	D	0.333	0.65522	0.313	0.28774	0.62133168466	0.61826	0.11405143200442942	0.11333	0.174460457525	0.19643	0.511897265911	0.40488	T	0.070734	0.34033	T	-0.0420936	0.45639	T	-0.298241	0.44910	T	0.358110315614382	0.27335	T	0.833317	0.50212	T	0.095855005	0.22568	0.15444237	0.36247	0.095855005	0.22568	0.15444237	0.36246	-4.133	0.25775	T	0.060559434636289176	0.01671	0.304	0.53269	B	.	.	3.648711	0.51769	23.1	0.98171556834533114	0.38865	0.94866	0.62602	D	AEFDBI	0.491743	0.52867	N	-0.123947280951334	0.36352	2.100037	0.12146221785838	0.45648	2.824304	0.99992873925507	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.053000	0.57139	11.866000	0.98448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.139	0.98055	810	0.42761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	34	chr8	60856055	.	G	A	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.726;DP=792;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.33;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr8	63186621	63186621	G	A	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.G457A:p.V153M,YTHDF3:NM_001277817:exon4:c.G457A:p.V153M,YTHDF3:NM_001277818:exon4:c.G457A:p.V153M,YTHDF3:NM_152758:exon4:c.G610A:p.V204M,YTHDF3:NM_001277813:exon5:c.G619A:p.V207M,YTHDF3:NM_001277814:exon5:c.G619A:p.V207M,YTHDF3:NM_001277815:exon5:c.G457A:p.V153M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0284944346617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.27056	T	0.965	0.56013	D	0.656	0.52685	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.51583	.	.	.	.	.	.	.	0.28299952	0.45879	T	0.028494	0.51165	D	.	.	.	.	0.0675242888579	0.06100	0.42655970667476256	0.42572	1.46053770345	0.86340	0.75730407238	0.75528	T	0.025451	0.19026	T	0.124713	0.66842	D	-0.0586348	0.66428	T	.	.	.	0.963304	0.87416	D	0.22798337	0.45510	0.3949585	0.64176	0.22798337	0.45510	0.3949585	0.64176	-5.702	0.43712	T	.	.	0.111	0.30022	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.909069	0.80750	27.4	0.90831183174696462	0.20080	0.96384	0.68875	D	AEFDBCI	0.919377	0.88982	D	.	.	.	.	.	.	0.999999999999827	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.320204	0.05785	0	0.322829	0.05601	0	.	.	5.56	5.56	0.83678	8.002000	0.88029	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.515	0.95155	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2115.33	35	chr8	63186621	.	G	A	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=759;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.654;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr8	63187029	63187029	C	T	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.C865T:p.P289S,YTHDF3:NM_001277817:exon4:c.C865T:p.P289S,YTHDF3:NM_001277818:exon4:c.C865T:p.P289S,YTHDF3:NM_152758:exon4:c.C1018T:p.P340S,YTHDF3:NM_001277813:exon5:c.C1027T:p.P343S,YTHDF3:NM_001277814:exon5:c.C1027T:p.P343S,YTHDF3:NM_001277815:exon5:c.C865T:p.P289S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0299035880984	.	0.000998403	0.0005	0	0	0	0	0	0	0.0034	0.0003946	61	154602	rs568180760	0.0002	0.0002	8.442e-05	0.0003	0.0029	0.0002	0.0001	0.0026	0.0024	0	0	0	0	0	0.0002	0	9.94e-05	0.0029	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.66e-05	7.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	.	.	.	0.32	0.21011	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22870	.	.	.	.	.	.	.	0.0062336326	0.00140	T	0.029904	0.52327	D	.	.	.	.	0.043077524339	0.03247	0.17773639337103164	0.17692	0.578397025268	0.53743	0.47733142972	0.35690	T	0.073345	0.34674	T	-0.428125	0.01521	T	-0.391426	0.34385	T	.	.	.	0.765923	0.39853	T	0.082089	0.18893	0.28422394	0.54419	0.082089	0.18892	0.28422394	0.54418	-4.874	0.35442	T	.	.	0.064	0.02488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.731617	0.35759	19.98	0.8845159302283071	0.17987	0.90676	0.52051	D	AEFDBHCI	0.498467	0.53256	N	.	.	.	.	.	.	0.999999992658821	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.68	4.81	0.61401	1.557000	0.35906	4.068000	0.41642	-0.804000	0.03133	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1365:0.8635:0.0:0.0	15.921	0.79356	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2695.33	35	chr8	63187029	.	C	T	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=813;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=2.28;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr8	63187516	63187516	A	G	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.A1352G:p.E451G,YTHDF3:NM_001277817:exon4:c.A1352G:p.E451G,YTHDF3:NM_001277818:exon4:c.A1352G:p.E451G,YTHDF3:NM_152758:exon4:c.A1505G:p.E502G,YTHDF3:NM_001277813:exon5:c.A1514G:p.E505G,YTHDF3:NM_001277814:exon5:c.A1514G:p.E505G,YTHDF3:NM_001277815:exon5:c.A1352G:p.E451G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117712730528	.	.	1.659e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765589874	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.25827	T	0.415	0.35204	B	0.18	0.35854	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.38541	.	.	.	.	.	.	.	0.22182629	0.38918	T	0.117713	0.79756	D	.	.	.	.	0.0934897674506	0.08844	0.5697226373194538	0.56900	0.659893368423	0.58832	0.691929399967	0.65983	T	0.047524	0.27747	T	-0.135877	0.30548	T	-0.196286	0.54998	T	.	.	.	0.918208	0.70605	D	0.3094542	0.53739	0.6462923	0.79318	0.3094542	0.53739	0.6462923	0.79319	-7.756	0.59396	D	.	.	0.562	0.71892	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.132551	0.85898	28.7	0.89853885405268685	0.19160	0.96835	0.71196	D	AEFBCI	0.941392	0.94460	D	.	.	.	.	.	.	0.999999999990052	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.55	5.55	0.83298	9.274000	0.94942	11.268000	0.91307	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.684	0.77150	868	0.31772	YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain;YTH domain|YTH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1547.33	35	chr8	63187516	.	A	G	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.92;DP=746;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.26;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr8	64581463	64581463	-	GCAGCAGCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.673_674insGCAGCAGCA:p.S234_K235insSSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs564889045	0.0003	0.0002	0.0003	0.0002	0.0045	0.0002	0.0002	0.0031	0.0027	0.0006	0.0004	4.079e-05	0.0001	2.808e-05	0.0045	0.0002	0.0008	0.0001	0.0003	0.0003	0.0003	0.0004	0.0007	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0004	0	0.0002	0	0.0040	0.0004	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6849.62	34	chr8	64581463	.	G	GGCAGCAGCA	6849.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=939;ExcessHet=0.1504;FS=0.825;InbreedingCoeff=0.2078;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=22.91;ReadPosRankSum=1.17;SOR=0.63	GT:AD:DP:GQ:PL	0/0:26,0:52:99:904,983,2025	18	0	1	0
chr8	64615784	64615784	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A757G:p.K253E,CYP7B1:NM_004820:exon3:c.A757G:p.K253E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	899943	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_5A|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.0476759423704	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200328073	8.211e-05	8.209e-05	8.033e-05	8.39e-05	5.041e-05	7.003e-05	6.554e-05	1.663e-05	1.425e-05	0	0	0.0030	5.041e-05	0	0	2.429e-05	0.0002	0	9.199e-05	9.193e-05	5.139e-05	0.0001	2.94e-05	5.528e-05	4.365e-05	4.88e-06	1.83e-06	0	0	0	0.0035	0	0	0	2.94e-05	0	0	0.239	0.17761	T	0.901	0.03039	T	0.0	0.02946	B	0.009	0.14300	B	0.819901	0.09186	N	0.934500	1	0.08975	N	0.515	0.13537	N	-1.91	0.84701	D	-0.55	0.16799	N	0.161	0.16864	-0.8128	0.54380	T	0.386	0.74157	T	10	0.017489403	0.00374	T	0.047676	0.63029	D	0.149	0.39377	0.463	0.53242	0.831939011567	0.83034	0.4893566704260673	0.48855	0.109330788207	0.12331	0.279992610216	0.07491	T	0.15344	0.49429	T	-0.244017	0.14841	T	-0.419162	0.31172	T	0.0415310950387887	0.03969	T	0.244976	0.03588	T	0.083230615	0.19210	0.08240401	0.18804	0.083230615	0.19209	0.08240401	0.18803	-4.79	0.34475	T	0.3121808715376566	0.41009	0.127	0.27131	B	.	.	1.756880	0.22349	15.58	0.85361785411301894	0.15845	0.50206	0.28609	D	AEFI	0.166334	0.29291	N	-0.744160474871161	0.14792	0.739904	-0.675094733141806	0.17585	0.9356728	1.62836631306364E-4	0.05721	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.1	0.26226	1.681000	0.37234	2.224000	0.31475	0.665000	0.62972	0.817000	0.29947	0.994000	0.32194	0.642000	0.32476	0.0:0.0706:0.2909:0.6385	9.297	0.36983	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7877.33	37	chr8	64615784	.	T	C	7877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=1326;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.08;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr8	65605453	65605453	A	C	exonic	ARMC1	.	nonsynonymous SNV	ARMC1:NM_001286702:exon4:c.T245G:p.V82G,ARMC1:NM_018120:exon5:c.T551G:p.V184G	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.0894046239236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.005	0.79402	D	0.791	0.44643	P	0.255	0.39216	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.8	0.48769	T	-3.18	0.72820	D	0.549	0.57518	-0.4331	0.70964	T	0.298	0.66933	T	10	0.6461297	0.69336	D	0.089405	0.75321	D	0.624	0.85459	0.373	0.38503	0.498282089621	0.49464	0.7623544563466883	0.76183	0.894811532666	0.70413	0.713670611382	0.69125	T	0.28431	0.65708	T	0.297678	0.82783	D	0.189818	0.82559	D	0.915910669193468	0.57312	D	0.923008	0.72857	D	0.6226336	0.73904	0.662655	0.80228	0.6226336	0.73905	0.662655	0.80229	-14.435	0.94385	D	.	.	0.985	0.92844	P	.;.;.	.;.;.	4.845638	0.79160	27.0	0.99172193949083176	0.54412	0.99056	0.90582	D	AEFDBI	0.902963	0.85148	D	0.662142161980923	0.77157	6.620899	0.6841559616919	0.81174	7.465843	0.99999428078618	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	8.818000	0.91619	11.051000	0.85300	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.548	0.75856	726	0.54788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2481.33	42	chr8	65605453	.	A	C	2481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.317;SOR=0.731	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr8	66429796	66429796	T	C	exonic	RRS1	.	nonsynonymous SNV	RRS1:NM_015169:exon1:c.T665C:p.M222T	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0730083769618	0.0037	0.00119808	0.0033	0.0017	0.0016	0	0.0006	0.0053	0.0024	0.0009	0.0034152	528	154602	rs137894990	0.0056	0.0056	0.0058	0.0054	0.0068	0.0055	0.0054	0.0066	0.0066	0.0015	0.0021	0.0018	0	0.0004	0.0043	0.0068	0.0048	0.0010	0.0038	0.0038	0.0040	0.0037	0.0070	0.0036	0.0035	0.0064	0.0062	0.0013	0	0.0024	0	0.0004	0.0002	0.0170	0.0070	0.0033	0.0004	0.102	0.30235	T	0.17	0.30436	T	0.329	0.33227	B	0.191	0.36391	B	0.000031	0.55875	D	0.188274	0.97169	0.38890	D	1.485	0.37223	L	-2.01	0.85468	D	-1.91	0.44471	N	0.224	0.25130	-0.4221	0.71323	T	0.357	0.71951	T	10	0.005376667	0.00118	T	0.073008	0.71680	D	0.411	0.72252	.	.	0.461122776993	0.45736	0.417064413159898	0.41622	0.58792294818	0.54349	0.518063664436	0.41353	T	0.059203	0.31052	T	-0.264195	0.12413	T	-0.147849	0.59433	T	0.0546780064878362	0.06304	T	0.530647	0.17608	T	0.42394164	0.62353	0.5103681	0.71705	0.42394164	0.62353	0.5103681	0.71706	-5.192	0.38860	T	.	.	0.269	0.50334	B	.	.	2.918359	0.38732	20.8	0.93474272518289059	0.23268	0.73909	0.36151	D	ALL	0.255534	0.37463	N	-0.0231176831186772	0.40811	2.430039	0.0775222255079102	0.43421	2.644166	0.999999999999858	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	3.24	0.36257	2.562000	0.45576	3.238000	0.36948	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1476:0.0815:0.0:0.7709	5.895	0.18177	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1624.33	33	chr8	66429796	.	T	C	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=842;ExcessHet=0;FS=6.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.32;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr8	66430095	66430127	AAGAGGAAAGGGGGCCCGCCCAGCCAGGGAGGG	-	exonic	RRS1	.	nonframeshift deletion	RRS1:NM_015169:exon1:c.964_996del:p.P327_G337del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0009	3.84e-05	1	26028	rs769712999	2.533e-05	2.531e-05	1.635e-05	3.44e-05	0.0003	1.869e-05	1.632e-05	0.0002	0.0002	0	0	0	5.039e-05	0	0	8.996e-07	8.289e-05	0.0003	1.32e-05	1.314e-05	0	2.702e-05	0.0004	2.19e-06	8.2e-07	7.378e-05	3.061e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	870.29	30	chr8	66430094	.	CAAGAGGAAAGGGGGCCCGCCCAGCCAGGGAGGG	C	870.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.87;ReadPosRankSum=-0.183;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr8	66444705	66444705	T	-	exonic	ADHFE1	.	frameshift deletion	ADHFE1:NM_144650:exon5:c.310delT:p.F104Lfs*7	.	428	1074	18	2	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0025	0	0.0006	0	0	0.0002	0.0011	0.0168	0.0020375	315	154602	rs567577128	0.0012	0.0012	0.0007	0.0017	0.0176	0.0011	0.0011	0.0168	0.0165	5.974e-05	0.0004	0.0007	0	0	0.0045	8.363e-05	0.0010	0.0176	0.0007	0.0007	0.0004	0.0010	0.0170	0.0006	0.0005	0.0140	0.0129	2.405e-05	0	0.0004	0.0014	0	0	0	7.349e-05	0.0005	0.0170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.007576	0.05263	5173.79	33	chr8	66444704	.	CT	C	5173.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.722;DP=973;ExcessHet=0.119;FS=5.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.262;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	17	0	2	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,20:80:29:.:.:0,29,1082:.	8	0	10	1
chr8	66493692	66493692	T	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.T44C:p.V15A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00390689999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.535e-05	2.741e-06	0	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.157	0.92824	T	0.998	0.90584	D	0.99	0.84481	D	0.000007	0.62929	D	0.000000	0.998847	0.45546	D	.	.	.	.	.	.	-2.64	0.66325	D	0.744	0.88246	-0.6284	0.63639	T	0.286	0.65773	T	9	0.5246484	0.62839	D	0.003907	0.09211	T	0.217	0.51112	0.36	0.36385	0.451585352066	0.44779	0.5005733432488454	0.49978	1.46053770345	0.86340	.	.	.	0.114249	0.49518	T	0.205547	0.74412	D	0.0574777	0.74077	D	0.892442107348041	0.54353	D	0.734227	0.36032	T	0.57360226	0.71258	0.56530106	0.74840	0.57360226	0.71259	0.56530106	0.74841	-3.33	0.15245	T	.	.	0.980	0.92305	P	.;.;.;.	.;.;.;.	3.949088	0.57843	23.9	0.99880771886591968	0.95733	0.97771	0.77014	D	AEFGBHI	0.663003	0.63267	D	0.602656974322728	0.73343	5.950544	0.643093491109605	0.78099	6.808267	0.999999995810959	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	5.120000	0.64523	7.788000	0.68824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.049	0.71519	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	70.83	35	chr8	66493692	.	T	C	70.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.271;DP=811;ExcessHet=0.119;FS=54.476;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=-1.204;QD=0.71;ReadPosRankSum=1.14;SOR=6.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1369:.	17	0	2	0
chr8	66961531	66961531	C	G	exonic	TCF24	.	nonsynonymous SNV	TCF24:NM_001193502:exon3:c.G235C:p.V79L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403603721773	.	.	9.332e-05	0	0	0	.	0	0	0.0001	6.5e-06	1	154602	rs538845993	8.099e-06	7.524e-06	7.266e-06	8.954e-06	2.614e-05	4.35e-06	3.18e-06	4.34e-06	2.33e-06	0	0	0	0	0	0	7.486e-06	1.76e-05	2.614e-05	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999505	0.47320	D	0.68	0.16426	N	-2.17	0.86624	D	-3.0	0.62343	D	0.604	0.62188	.	.	.	.	.	.	.	0.69105816	0.71858	D	0.403604	0.93450	D	.	.	.	.	0.792249739881	0.79031	0.5757726108060812	0.57506	.	.	0.92461514473	0.98654	D	0.593251	0.86855	D	0.108586	0.65205	D	0.0655273	0.74611	D	.	.	.	0.89491	0.63503	D	0.61098397	0.73280	0.5465994	0.73790	0.61098397	0.73281	0.5465994	0.73790	-11.153	0.80490	D	.	.	0.976	0.90447	P	.	.	5.554693	0.92082	32	0.9972002842364357	0.81984	0.98472	0.83137	D	AEFDGBCI	0.938142	0.93691	D	.	.	.	.	.	.	1.0	0.98316	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.23	5.23	0.72570	7.832000	0.84935	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	18.378	0.90385	804	0.43891	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002066	0.006250	0.003759	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	608.33	35	chr8	66961531	.	C	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=701;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.24;SOR=0.357	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr8	67190725	67190725	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon24:c.A2246G:p.E749G,CSPP1:NM_001363133:exon26:c.A3020G:p.E1007G,CSPP1:NM_001364870:exon26:c.A3182G:p.E1061G,CSPP1:NM_001363132:exon27:c.A3101G:p.E1034G,CSPP1:NM_024790:exon27:c.A3281G:p.E1094G,CSPP1:NM_001363131:exon28:c.A3215G:p.E1072G,CSPP1:NM_001364869:exon28:c.A3362G:p.E1121G,CSPP1:NM_001382391:exon29:c.A3296G:p.E1099G	Joubert syndrome 21, Autosomal recessive	434	1084	4	0	0	4	0.00184162	.	.	.	502504	CSPP1-related_disorder|Joubert_syndrome_21|not_provided	.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0271566273356	8.2e-05	.	8.282e-05	0.0001	8.646e-05	0	0	5.995e-05	0.0011	0.0002	6.47e-05	10	154602	rs201629827	6.637e-05	6.704e-05	5.719e-05	7.565e-05	0.0050	5.563e-05	5.154e-05	0.0036	0.0031	5.975e-05	4.472e-05	0.0002	0	0	0.0050	2.429e-05	0.0002	0.0002	6.569e-05	6.562e-05	8.998e-05	4.03e-05	7.351e-05	3.516e-05	2.615e-05	2.847e-05	1.858e-05	2.408e-05	0	0	0	0	0	0.0068	7.351e-05	0.0009	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.001001	0.40652	N	0.247806	1	0.81001	D	.	.	.	1.25	0.36691	T	-3.13	0.67129	D	0.538	0.56576	-0.7420	0.58350	T	0.197	0.55158	T	10	0.4321725	0.57562	T	0.027157	0.50001	D	0.168	0.42943	.	.	0.578941962908	0.57563	0.06893876249573339	0.06831	0.5383661566	0.51097	0.472102284431	0.34969	T	.	.	.	-0.0447238	0.45246	T	-0.0993652	0.63446	T	0.402587741613388	0.29039	T	0.882412	0.60854	D	.	.	.	.	.	.	.	.	-8.638	0.65537	D	.	.	0.358	0.57085	A	.;.	.;.	4.161135	0.62489	24.5	0.99915800758215989	0.98379	0.92816	0.56616	D	AEFBI	0.383676	0.46509	N	0.550353576154997	0.70105	5.452706	0.47391925443463	0.66267	4.929872	0.67784392537872	0.22445	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.42	4.42	0.52775	4.360000	0.59229	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.416000	0.27139	1.0:0.0:0.0:0.0	12.026	0.52665	674	0.60593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.023392	0.000000	0.000000	0.000000	0.000000	0.02632	1523.33	38	chr8	67190725	.	A	G	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=748;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.308;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr8	67267197	67267197	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1706C:p.Y569S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.899	0.237962970762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	-0.78	0.73631	T	-8.35	0.97055	D	0.942	0.94904	0.687	0.93008	D	0.706	0.89885	D	10	0.9347031	0.92803	D	0.237963	0.88567	D	0.899	0.97173	0.765	0.89293	0.928413877143	0.92768	0.9410339865550086	0.94084	2.66344963391	0.98472	0.923793792725	0.98598	D	0.579556	0.86210	D	0.426857	0.91374	D	0.375374	0.91268	D	0.999809205532074	0.99090	D	0.999009	0.99481	D	0.95048153	0.96314	0.9252946	0.96768	0.95048153	0.96314	0.9252946	0.96769	-14.428	0.94364	D	.	.	0.997	0.96728	P	.	.	4.199179	0.63353	24.6	0.9915802266271444	0.54015	0.99263	0.93634	D	AEFBIJ	0.859364	0.77703	D	0.987119455993339	0.95336	13.52262	0.906983321677204	0.95869	14.05404	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	237.59	77	chr8	67267197	.	T	G	237.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.192;DP=1067;ExcessHet=0.119;FS=135.812;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=3.01;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:50:.:.:0,50,2138:.	16	0	2	1
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	665.25	64	chr8	67267206	.	T	G	665.25	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-4.209;DP=1722;ExcessHet=0.7564;FS=168.069;InbreedingCoeff=-0.2463;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.52;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0:72:0:.:.:0,0,1140:.	8	0	4	7
chr8	67288041	67288041	T	C	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon7:c.A941G:p.Y314C	.	479	1038	3	2	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0007	0.0241613	0.0123	0.0007	0.0376	0.1120	0.0003	0.0003	0.0078	0.0031	0.0114035	1763	154602	rs76811394	0.0042	0.0043	0.0044	0.0040	0.1022	0.0041	0.0041	0.0996	0.0985	0.0005	0.0277	3.889e-05	0.1022	0.0011	0.0009	0.0002	0.0061	0.0032	0.0055	0.0056	0.0049	0.0063	0.1019	0.0052	0.0051	0.0947	0.0919	0.0010	0	0.0131	0	0.1019	0.0011	0	0.0004	0.0061	0.0052	0.178	0.22138	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.246133	0.15607	N	0.639663	0.711467	0.33523	D	0.895	0.22405	L	2.13	0.19588	T	0.09	0.05917	N	0.105	0.08925	-1.0922	0.05175	T	0.002	0.00497	T	10	0.0021713376	0.00031	T	.	.	.	0.077	0.22490	.	.	.	.	0.1972633484220722	0.19643	0.445717174749	0.44459	0.608375430107	0.54086	T	0.094523	0.39434	T	-0.559103	0.00257	T	-0.489036	0.23493	T	0.00835954930862052	0.00101	T	0.737926	0.35508	T	0.06564336	0.14048	0.051582094	0.08329	0.06564336	0.14048	0.051582094	0.08328	-2.36	0.04894	T	.	.	0.058	0.00614	B	.	.	2.612709	0.33937	19.49	0.97194579099039913	0.32779	0.92158	0.55074	D	AEBI	0.431429	0.49372	N	-0.249985751337175	0.31103	1.740783	-0.0980935924300736	0.35470	2.052438	0.809555116605096	0.24331	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.2	0.48814	3.368000	0.52084	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0707:0.0:0.9293	11.676	0.50692	481	0.77356	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1349.33	34	chr8	67288041	.	T	C	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.689;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr8	67291967	67291967	C	A	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon6:c.G796T:p.D266Y	.	436	1069	16	1	0	18	0.00834879	.	.	.	700634	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00681871477776	0.0059	0.00279553	0.0046	0.0007	0.0030	0	0.0005	0.0062	0.0044	0.0058	0.0047347	732	154602	rs61753695	0.0060	0.0060	0.0059	0.0060	0.0107	0.0059	0.0058	0.0086	0.0078	0.0016	0.0040	0.0036	0	0.0009	0.0107	0.0067	0.0051	0.0058	0.0042	0.0042	0.0043	0.0040	0.0073	0.0039	0.0038	0.0065	0.0063	0.0009	0.0011	0.0033	0.0032	0	0.0006	0.0102	0.0070	0.0076	0.0073	0.032	0.44694	D	0.037	0.51737	D	0.476	0.36665	P	0.054	0.25828	B	0.081422	0.20866	N	0.484682	0.986106	0.40381	D	0.69	0.16971	N	2.08	0.20255	T	-1.15	0.29525	N	0.545	0.57177	-1.0929	0.05066	T	0.029	0.12497	T	10	0.005772054	0.00129	T	0.006819	0.18037	T	0.077	0.22490	.	.	0.307279486299	0.30330	0.44033713089806176	0.43950	0.497859118466	0.48274	0.445733129978	0.31362	T	0.117077	0.43690	T	-0.439794	0.01297	T	-0.398254	0.33588	T	0.0143853665426421	0.00289	T	0.884911	0.60954	D	0.15221918	0.34564	0.11319859	0.27318	0.15221918	0.34564	0.11319859	0.27317	-5.814	0.44696	T	.	.	0.090	0.12702	B	.	.	3.798646	0.54724	23.5	0.96828878985132449	0.31255	0.98252	0.80950	D	AEFBI	0.494086	0.53003	N	-0.0247180275466265	0.40739	2.424495	0.0874492119608175	0.43914	2.683554	0.999998093037499	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.930000	0.48618	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:1.0:0.0:0.0	18.363	0.90322	452	0.79239	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012085	0.010101	0.009511	0.011696	0.000000	0.034483	0.006098	0.015152	0.02632	1441.33	33	chr8	67291967	.	C	A	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.763;DP=743;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.461;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,172:.	9	0	5	5
chr8	68105309	68105309	C	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_025170:exon24:c.C2887T:p.P963S	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.000199681	0.0004	0	0.0004	0	0	0.0005	0.0011	0.0004	0.0003622	56	154602	rs199951468	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0006	0.0004	7.605e-05	0.0002	0.0062	0	0	0.0013	0.0001	0.0006	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	1.973e-05	1.125e-05	2.407e-05	0	6.542e-05	0.0049	0	0	0.0034	5.882e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.100000	0.000000	0.000000	0.000000	0.02632	970.33	45	chr8	68105309	.	C	T	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.215;DP=715;ExcessHet=0;FS=4.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.088;SOR=1.323	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	18	0	1	0
chr8	68134184	68134184	A	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_024870:exon32:c.A3892T:p.M1298L	.	434	1082	5	1	0	7	0.00322432	.	.	.	3203518	PREX2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00940088727086	0.0012	0.000798722	0.0018	0.0003	0.0002	0.0001	0.0053	0.0025	0	0.0003	0.0017205	266	154602	rs78101420	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0002	0.0002	0.0004	0	0.0053	0.0038	0.0019	0.0018	0.0008	0.0013	0.0013	0.0014	0.0013	0.0019	0.0012	0.0011	0.0017	0.0016	0.0003	0	0.0007	0	0	0.0041	0	0.0019	0	0.0012	0.033	0.44358	D	0.076	0.42614	T	0.0	0.02946	B	0.002	0.06944	B	0.000090	0.51296	N	0.174811	0.949142	0.26546	N	0	0.06538	N	0.94	0.43672	T	-0.64	0.18670	N	0.336	0.37717	-1.0455	0.15680	T	0.063	0.26208	T	10	0.007882744	0.00179	T	0.009401	0.24646	T	0.064	0.18567	0.261	0.20473	0.298745278005	0.29478	0.2710049795234357	0.27013	0.136679722396	0.15416	0.65880048275	0.61237	T	0.035825	0.23870	T	-0.470342	0.00846	T	-0.452381	0.27434	T	0.0256103501614294	0.01354	T	0.592541	0.21854	T	0.1156555	0.27288	0.11057367	0.26662	0.1156555	0.27287	0.11057367	0.26661	-2.309	0.04604	T	0.13666283317687547	0.14967	0.092	0.13783	B	.	.	2.150219	0.27389	17.44	0.9290632277484443	0.22463	0.97400	0.74509	D	AEFBI	0.619294	0.60478	D	-0.221576678380531	0.32248	1.816727	-0.032524577613938	0.38255	2.251242	0.0491386883282523	0.14794	0.719381	0.83141	0	0.573888	0.26702	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.42	4.23	0.49319	2.526000	0.45267	9.154000	0.78961	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7755:0.15:0.0745:0.0	7.045	0.24219	97	0.95994	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1877.33	141	chr8	68134184	.	A	T	1877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=775;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.142;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	18	0	1	0
chr8	69832346	69832346	C	T	exonic	SLCO5A1	.	nonsynonymous SNV	SLCO5A1:NM_001146008:exon1:c.G328A:p.A110T,SLCO5A1:NM_001146009:exon1:c.G328A:p.A110T,SLCO5A1:NM_030958:exon2:c.G328A:p.A110T	.	431	1080	11	0	0	11	0.00506679	.	.	.	711621	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0071	0.00239617	0.0052	0.0012	0.0026	0	0.0085	0.0077	0.0055	0.0004	0.0052263	808	154602	rs34148850	0.0075	0.0075	0.0077	0.0073	0.0085	0.0074	0.0073	0.0084	0.0083	0.0010	0.0036	0.0069	2.519e-05	0.0111	0.0049	0.0085	0.0073	0.0003	0.0059	0.0059	0.0059	0.0058	0.0087	0.0056	0.0054	0.0082	0.0079	0.0015	0	0.0066	0.0063	0	0.0095	0	0.0087	0.0080	0	0.768	0.04340	T	0.95	0.02662	T	0.002	0.09854	B	0.0	0.01387	B	0.277603	0.15005	N	0.617271	0.999997	0.08975	N	-0.55	0.02420	N	1.21	0.39223	T	-0.07	0.10656	N	0.01	0.00445	-1.0068	0.27912	T	0.030	0.12979	T	10	0.003406942	0.00060	T	.	.	.	0.023	0.04649	.	.	0.216624796971	0.21254	0.1443062845520419	0.14353	0.281943473049	0.30663	0.279977560043	0.07489	T	0.001628	0.01056	T	-0.722524	0.00027	T	-0.803951	0.01806	T	0.000555797278350387	0.00005	T	0.685431	0.29402	T	0.020339876	0.00589	0.046992466	0.06672	0.020339876	0.00589	0.046992466	0.06672	-4.274	0.27811	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.588668	0.01602	0.109	0.89529917206741705	0.18875	0.05467	0.11348	N	AEFDGBHCI	0.048919	0.08399	N	-1.33664095835904	0.03265	0.1455717	-1.27545147771372	0.04764	0.2255202	0.9999984422303	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.96	-0.401	0.11789	-0.373000	0.07550	0.585000	0.19752	-0.924000	0.02182	0.000000	0.06391	0.993000	0.31925	0.002000	0.04165	0.0:0.5501:0.0:0.4499	9.544	0.38431	897	0.25382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.004076	0.002924	0.050000	0.000000	0.006098	0.000000	0.02632	1544.33	33	chr8	69832346	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.67;SOR=0.734	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1357	18	0	1	0
chr8	70069703	70069703	A	C	exonic	PRDM14	.	nonsynonymous SNV	PRDM14:NM_024504:exon2:c.T158G:p.F53C	.	399	1120	3	0	0	3	0.00133749	.	.	.	2383653	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0174036131148	0.0005	0.000199681	0.0008	0	0.0017	0	0	0.0012	0.0056	0.0006	0.0003493	54	154602	rs149635847	0.0010	0.0009	0.0009	0.0010	0.0011	0.0009	0.0009	0.0011	0.0011	0.0003	0.0003	0	0	2.048e-05	0.0011	0.0011	0.0008	0.0005	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0003	0	0	0	0.0136	0.0010	0.0014	0.0006	0.003	0.68238	D	0.015	0.61642	D	0.983	0.60381	D	0.533	0.48638	P	0.000902	0.41128	D	0.210963	0.998179	0.22310	N	0.975	0.24501	L	2.64	0.12780	T	-1.38	0.84175	N	0.402	0.44283	-1.0542	0.13251	T	0.027	0.11751	T	10	0.019714803	0.00444	T	0.017404	0.39083	T	0.107	0.30369	.	.	0.123314135267	0.11883	0.5381441680233661	0.53739	1.28454726725	0.82622	0.46971654892	0.34641	T	0.080513	0.45491	T	-0.426197	0.01563	T	-0.435419	0.29321	T	0.043770291911391	0.04379	T	0.612939	0.23352	T	0.18579088	0.39958	0.12224118	0.29487	0.18579088	0.39957	0.12224118	0.29486	-4.407	0.29652	T	.	.	0.629	0.70061	P	.;.	.;.	2.870537	0.37953	20.6	0.84697294962391623	0.15444	0.76951	0.37784	D	AEFDBHCI	0.342259	0.43847	N	-0.182623556782008	0.33857	1.925751	-0.298321408095737	0.28153	1.567502	0.999998074160017	0.74766	0.72623	0.87236	0	0.616487	0.53143	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	2.22	0.27116	3.720000	0.54661	4.477000	0.43519	0.756000	0.94297	0.531000	0.27197	0.901000	0.27973	0.021000	0.11733	0.7294:0.1774:0.0932:0.0	5.785	0.17591	938	0.14419	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	52	chr8	70069703	.	A	C	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.711;DP=840;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.584;SOR=0.627	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1209	18	0	1	0
chr8	70156483	70156483	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321713:exon10:c.G1420A:p.G474R,NCOA2:NM_001321703:exon11:c.G1882A:p.G628R,NCOA2:NM_001321707:exon11:c.G1882A:p.G628R,NCOA2:NM_001321711:exon11:c.G1882A:p.G628R,NCOA2:NM_001321712:exon11:c.G1882A:p.G628R,NCOA2:NM_006540:exon11:c.G1882A:p.G628R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0185590978786	0.0009	.	0.0008	0.0001	0.0003	0	0.0002	0.0012	0.0022	0	0.0007697	119	154602	rs201963563	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	8.961e-05	0.0007	0.0041	2.519e-05	0.0004	0	0.0009	0.0009	2.319e-05	0.0009	0.0009	0.0011	0.0007	0.0016	0.0008	0.0007	0.0014	0.0013	7.243e-05	0	0.0005	0.0032	0	0.0005	0	0.0016	0.0010	0	0.006	0.61437	D	0.018	0.59732	D	0.996	0.68779	D	0.616	0.51268	P	0.000830	0.41547	D	0.242899	0.852425	0.35245	D	1.67	0.42885	L	4.71	0.01655	T	-1.76	0.41618	N	0.409	0.44952	-1.0338	0.19236	T	0.014	0.05753	T	10	0.014822245	0.00311	T	0.018559	0.40664	T	0.148	0.39182	0.243	0.17677	0.23524818089	0.23142	0.3427499896510676	0.34187	0.391672544124	0.40365	0.508991599083	0.40081	T	0.352266	0.71972	T	-0.415653	0.01824	T	-0.39446	0.34029	T	0.0467867450746708	0.04926	T	0.949205	0.80472	D	0.11642343	0.27461	0.13401335	0.32123	0.11642343	0.27460	0.13401335	0.32122	-4.736	0.33836	T	.	.	0.221	0.45224	B	.	.	3.146805	0.42582	21.6	0.99804719839297629	0.88906	0.84097	0.43182	D	AEFDBI	0.236202	0.35869	N	0.140051161983413	0.48340	3.047628	0.0452127078495015	0.41840	2.520488	0.9999970952919	0.74766	0.729952	0.87565	0	0.653731	0.59785	0	0.877121	0.99996	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	2.434000	0.44460	6.008000	0.52598	0.599000	0.40250	0.107000	0.22934	0.964000	0.29435	0.160000	0.20649	0.0:1.0:0.0:0.0	19.998	0.97395	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2205.33	153	chr8	70156483	.	C	T	2205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=826;ExcessHet=0;FS=4.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.269;SOR=0.699	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	180.33	34	chr8	72568126	.	T	C	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.823;DP=818;ExcessHet=0;FS=73.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=2.39;SOR=6.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.012228	0.020468	0.000000	0.000000	0.018293	0.030303	0.02632	2266.33	33	chr8	72937418	.	A	G	2266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.537;DP=913;ExcessHet=0;FS=5.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.703;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1350	18	0	1	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	926.75	91	chr8	73292778	.	GAACC	G	926.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.787;DP=1565;ExcessHet=0.3672;FS=235.638;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.26;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	16	0	3	0
chr8	73292780	73292780	A	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.T32C:p.V11A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0149817659998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	7.483e-05	0	1.415e-06	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	0	6.654e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.072	0.34982	T	0.079	0.42086	T	0.178	0.28960	B	0.019	0.18783	B	0.003767	0.34511	U	0.183686	0.999528	0.81001	D	2.605	0.76211	M	.	.	.	-1.61	0.38734	N	0.249	0.28146	-0.8721	0.50371	T	0.158	0.49161	T	9	0.13935885	0.26498	T	0.014982	0.35442	T	0.320	0.64215	0.236	0.16608	0.447408163157	0.44359	0.2523569332049469	0.25149	0.464243154752	0.45902	0.520545899868	0.41703	T	0.201271	0.55910	T	-0.106872	0.35287	T	-0.39129	0.34400	T	0.728952407836914	0.42156	D	0.550145	0.18957	T	0.07897117	0.18014	0.06704952	0.13819	0.07897117	0.18013	0.06704952	0.13818	-3.692	0.19200	T	.	.	0.210	0.43734	B	.	.	4.159245	0.62453	24.5	0.99450462782665161	0.65274	0.97034	0.72308	D	AEFDBHCI	0.510504	0.53952	D	-0.0136658867877536	0.41236	2.462968	0.0466492237653134	0.41909	2.525871	0.999995035951409	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.85	2.7	0.31007	5.745000	0.68308	9.307000	0.79926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8811:0.0:0.1189:0.0	5.797	0.17657	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	184.15	82	chr8	73292780	.	A	G	184.15	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,0:71:99:0|1:73292778_GAACC_G:404,569,2844:73292778	15	0	1	3
chr8	73292780	73292780	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	184.15	82	chr8	73292780	.	A	*	184.15	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	13	0	3	3
chr8	73292781	73292781	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G31C:p.V11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0139334947433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.952	0.02136	T	0.854	0.03467	T	0.045	0.21781	B	0.005	0.11217	B	0.003767	0.34511	U	0.183686	0.999531	0.81001	D	1.77	0.45869	L	.	.	.	1.0	0.01408	N	0.172	0.18376	-1.0393	0.17526	T	0.071	0.28936	T	9	0.04261172	0.03028	T	0.013933	0.33698	T	0.037	0.09474	0.223	0.14665	0.250512400709	0.24649	0.1907967873718953	0.18997	0.377967339066	0.39223	0.499058246613	0.38697	T	0.104702	0.41449	T	-0.147378	0.28722	T	-0.449475	0.27754	T	0.341861397027969	0.26697	T	0.692631	0.30204	T	0.053786583	0.10227	0.03245266	0.01983	0.053786583	0.10227	0.03245266	0.01983	-5.272	0.39665	T	.	.	0.186	0.40164	B	.	.	3.113271	0.42004	21.5	0.92328883612177748	0.21725	0.85326	0.44448	D	AEFDBHCI	0.200703	0.32741	N	-0.616447560925101	0.18449	0.9579671	-0.483828824768087	0.22598	1.228242	0.999967735189877	0.48965	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	1.89	0.24700	0.406000	0.20754	0.851000	0.22138	0.589000	0.31548	0.948000	0.32982	0.988000	0.31051	0.996000	0.76049	0.0:0.7704:0.0:0.2296	6.001	0.18750	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	185.19	74	chr8	73292781	.	C	G	185.19	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,0:71:99:0|1:73292778_GAACC_G:404,569,2844:73292778	12	0	1	6
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	185.19	74	chr8	73292781	.	C	*	185.19	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	10	0	3	6
chr8	73292782	73292782	C	G	exonic	RPL7	.	nonsynonymous SNV	RPL7:NM_000971:exon2:c.G30C:p.E10D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0139098399522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	6.841e-07	0	1.379e-06	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.13	0.34716	T	0.0	0.02946	B	0.0	0.01387	B	0.000021	0.55875	U	0.066749	1	0.81001	D	0.69	0.16971	N	.	.	.	-0.88	0.23808	N	0.203	0.22486	-1.0822	0.06927	T	0.070	0.28511	T	9	0.11699939	0.22085	T	0.01391	0.33663	T	0.047	0.12962	0.24	0.17218	0.356792473465	0.35289	0.20706201782616343	0.20622	0.349020583606	0.36765	0.510852754116	0.40342	T	0.156428	0.49860	T	-0.181319	0.23539	T	-0.498229	0.22531	T	0.827730000019073	0.48355	D	0.720928	0.33404	T	0.22204503	0.44795	0.091323994	0.21465	0.22204503	0.44795	0.091323994	0.21464	-5.127	0.38190	T	.	.	0.173	0.38006	B	.	.	3.892995	0.56660	23.8	0.99406606163392708	0.63075	0.96037	0.67248	D	AEFDBHCI	0.410813	0.48154	N	-0.371377826496532	0.26494	1.446367	-0.213489238476202	0.31051	1.753725	0.999998464560225	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.68	2.8	0.31881	3.407000	0.52394	4.839000	0.45267	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.8777:0.0:0.1223	7.139	0.24720	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	1113.09	74	chr8	73292782	.	C	G	1113.09	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,0:71:99:0|1:73292778_GAACC_G:404,569,2844:73292778	16	0	1	2
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1113.09	74	chr8	73292782	.	C	CGGGG	1113.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,16:71:99:0|1:73292778_GAACC_G:404,0,2227:73292778	14	0	3	2
chr8	74845442	74845442	G	T	exonic	PI15	.	nonsynonymous SNV	PI15:NM_001324403:exon5:c.G586T:p.V196F,PI15:NM_015886:exon5:c.G586T:p.V196F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0180772845543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.113	0.36901	T	1.0	0.90584	D	0.991	0.79672	D	0.000198	0.48115	D	0.180201	1	0.81001	D	1.94	0.52218	M	3.23	0.06931	T	-4.84	0.81030	D	0.816	0.81162	-1.1787	0.00389	T	0.076	0.30492	T	10	0.68574613	0.71550	D	0.018077	0.40021	T	0.369	0.68844	0.597	0.72739	0.0986583533028	0.09354	0.8630792589409749	0.86271	1.27903647777	0.82479	0.654615163803	0.60641	T	0.055288	0.29963	T	0.120221	0.66394	D	-0.065087	0.65975	T	0.997546017169952	0.91815	D	0.967103	0.88031	D	0.78822064	0.83162	0.5895837	0.76189	0.78822064	0.83164	0.5895837	0.76190	-13.092	0.89738	D	.	.	0.966	0.88899	P	.;.;.	.;.;.	3.979746	0.58499	24.0	0.99521538108910146	0.69284	0.98904	0.88416	D	AEFDBI	0.922351	0.89719	D	0.812224415993616	0.86865	9.024497	0.791915255337454	0.89225	9.888722	0.999999999761967	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	7.777000	0.84262	9.990000	0.82978	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	19.39	0.94567	819	0.41190	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1380.33	38	chr8	74845442	.	G	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=742;ExcessHet=0;FS=11.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.006;SOR=1.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	18	0	1	0
chr8	76704638	76704638	C	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon2:c.C550T:p.P184S	.	0	1508	14	0	0	14	0.00462046	.	.	.	2215373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00445974737805	.	.	0.0002	0	0	0	0	6.005e-05	0	0.0009	0.0001229	19	154602	rs770449887	9.646e-05	9.645e-05	8.168e-05	0.0001	0.0023	8.31e-05	7.85e-05	0.0013	0.0011	0	0	0	0	0	0.0023	4.137e-05	0.0002	0.0008	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	6.541e-05	0	0	0	0	2.94e-05	0.0005	0.0004	0.078	0.33923	T	0.212	0.26549	T	.	.	.	.	.	.	0.000473	0.44119	U	0.000000	0.999993	0.58761	D	0.435	0.12660	N	1.68	0.27184	T	-4.18	0.75537	D	0.246	0.37301	-1.0685	0.09746	T	0.034	0.14464	T	10	0.05478701	0.05886	T	0.00446	0.10937	T	0.066	0.19193	0.339	0.32979	0.0675242888579	0.06100	0.4246883332594747	0.42385	0.549042539457	0.51823	0.647955656052	0.59695	T	.	.	.	-0.502283	0.00555	T	-0.579776	0.14565	T	0.0576460490919469	0.06792	T	0.829717	0.50309	T	.	.	.	.	.	.	.	.	-3.957	0.23158	T	.	.	0.071	0.03811	B	.;.;.	.;.;.	3.218190	0.43840	21.8	0.97457936748131357	0.34069	0.96194	0.67967	D	AEFBI	0.463849	0.51259	N	-0.24997948503742	0.31105	1.740797	-0.0684053462564212	0.36704	2.139493	0.999682868037478	0.41756	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.42	4.54	0.55220	2.753000	0.47203	2.291000	0.31959	0.599000	0.40250	0.995000	0.38783	0.988000	0.31051	0.998000	0.85391	0.0:0.7096:0.147:0.1434	7.100	0.24510	855	0.34697	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	2003.33	34	chr8	76704638	.	C	T	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.817;DP=775;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.279;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr8	76707587	76707587	C	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon3:c.C2632A:p.Q878K	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.00998791565084	.	.	6.619e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs779768832	1.729e-05	1.915e-05	1.097e-05	2.372e-05	0.0003	1.187e-05	1.003e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.58e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.082	0.41573	T	.	.	.	.	.	.	.	.	.	.	0.999669	0.81001	D	.	.	.	1.03	0.40469	T	-2.65	0.56787	D	0.881	0.87917	-0.8208	0.53883	T	0.214	0.57534	T	9	0.30438387	0.47963	T	0.009988	0.25990	T	0.205	0.49236	0.464	0.53404	0.239312915715	0.23560	0.4167347759079498	0.41589	0.241060446744	0.26636	0.723388135433	0.70540	T	.	.	.	-0.269678	0.11792	T	-0.327591	0.41736	T	0.262780559436322	0.23436	T	0.824917	0.49436	T	.	.	.	.	.	.	.	.	-3.947	0.23008	T	.	.	0.336	0.55624	B	.;.	.;.	4.212798	0.63657	24.6	0.96328059462937421	0.29440	0.99113	0.91417	D	AEFDBHI	0.939784	0.94084	D	0.703204229005219	0.79844	7.164039	0.716719877899332	0.83649	8.077277	0.999999999814978	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	7.905000	0.86479	7.736000	0.67890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.884	0.92339	832	0.38914	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3235.83	34	chr8	76707587	.	C	A	3235.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=763;ExcessHet=0.119;FS=6.129;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.749;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,47:87:99:0|1:76707586_T_A:1839,0,1538:76707586	17	0	2	0
chr8	76851012	76851012	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G4091T:p.S1364I	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0158183269147	0.0002	0.000599042	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0013	0.0002911	45	154602	rs202188141	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0008	3.826e-05	0	0	0.0005	0.0002	0.0001	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.624e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0017	0.014	0.58626	D	0.019	0.59159	D	.	.	.	.	.	.	0.033105	0.24940	U	0.291648	0.887159	0.37123	D	.	.	.	0.69	0.51714	T	-2.14	0.48523	N	0.349	0.47115	-0.8576	0.51434	T	0.127	0.43339	T	10	0.025031954	0.00710	T	0.015818	0.36761	T	0.103	0.29403	.	.	0.123314135267	0.11883	0.3174596087985122	0.31658	0.196466744012	0.22005	0.363212525845	0.19852	T	.	.	.	-0.337094	0.05592	T	-0.307429	0.43935	T	0.0653872507335989	0.07987	T	0.644935	0.26896	T	.	.	.	.	.	.	.	.	-4.24	0.27327	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	3.402849	0.47165	22.4	0.98786684423702131	0.46222	0.97438	0.74751	D	AEFBI	0.586042	0.58423	D	-0.0461108992965707	0.39776	2.351187	0.0607690685982186	0.42595	2.579112	0.882419080588747	0.25652	0.638212	0.43195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.65	3.76	0.42368	3.392000	0.52279	4.618000	0.44064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1429:0.8571:0.0	15.069	0.71685	801	0.44448	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1557.33	115	chr8	76851012	.	G	T	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=770;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.484;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	0	1	0
chr8	76851866	76851866	A	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.A4945T:p.M1649L	.	0	1497	25	0	0	25	0.00828089	.	.	.	3214881	ZFHX4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.00467508426032	0.0002	0.000599042	0.0006	0	0	0.0001	0	0.0003	0.0022	0.0030	0.0005304	82	154602	rs371012847	0.0003	0.0003	0.0003	0.0004	0.0049	0.0003	0.0003	0.0034	0.0030	5.974e-05	2.236e-05	0	0	0	0.0049	0.0002	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	6.54e-05	0	0	0	0.0034	0.0004	0.0014	0.0027	0.754	0.05137	T	0.356	0.17166	T	.	.	.	.	.	.	0.001606	0.38497	U	0.115400	0.995519	0.24976	N	.	.	.	0.85	0.47130	T	-0.8	0.22078	N	0.315	0.35514	-1.0279	0.21136	T	0.069	0.28379	T	10	0.008215785	0.00186	T	0.004675	0.11597	T	0.073	0.21317	.	.	0.220282294035	0.21616	0.09727442859640135	0.09658	0.154209764161	0.17409	0.471081703901	0.34830	T	.	.	.	-0.471976	0.00826	T	-0.455353	0.27106	T	0.02214161636101	0.00925	T	0.670133	0.27879	T	.	.	.	.	.	.	.	.	-1.775	0.02436	T	.	.	0.084	0.09530	B	.;.;.	.;.;.	1.552224	0.19892	14.49	0.71654920249107767	0.09703	0.95705	0.65805	D	AEFBI	0.552004	0.56384	D	-0.478754030643267	0.22778	1.218672	-0.332646812023577	0.27050	1.498374	0.900540664753922	0.26078	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.41	1.88	0.24630	2.428000	0.44406	3.909000	0.40397	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7754:0.1464:0.0782:0.0	7.198	0.25038	800	0.44535	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.017241	0.009146	0.003788	0.02632	2293.33	43	chr8	76851866	.	A	T	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.805;DP=784;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-1.809;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	0	1	0
chr8	76854030	76854030	C	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.C7109T:p.T2370M	.	0	1516	4	2	0	8	0.00263158	.	.	.	3185176	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00975772827316	0.0003	0.000399361	0.0006	0	0.0004	0.0001	0.0002	0.0006	0	0.0015	0.0005627	87	154602	rs200621033	0.0006	0.0006	0.0006	0.0007	0.0020	0.0006	0.0006	0.0018	0.0017	5.974e-05	0.0002	0.0002	0	0.0002	0.0003	0.0006	0.0006	0.0020	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0003	0.0003	0.0002	9.413e-05	0	0.0006	0	0.0012	0.16	0.23721	T	0.147	0.32783	T	.	.	.	.	.	.	0.070363	0.21544	U	0.325051	1	0.08975	N	.	.	.	0.72	0.50976	T	-0.69	0.19720	N	0.057	0.02861	-1.0655	0.10432	T	0.062	0.25887	T	10	0.0069944263	0.00159	T	0.009758	0.25472	T	0.044	0.11924	.	.	0.0675242888579	0.06100	0.12351123756348206	0.12277	0.196977455865	0.22071	0.294634819031	0.09603	T	.	.	.	-0.546226	0.00307	T	-0.570623	0.15393	T	0.0128762952533175	0.00220	T	0.583442	0.21827	T	.	.	.	.	.	.	.	.	-5.372	0.40650	T	.	.	.	.	.	.;.	.;.	1.737773	0.22111	15.49	0.99012245302007285	0.50399	0.17929	0.20047	N	AEFBCI	0.115291	0.22675	N	-0.450638408617447	0.23718	1.275654	-0.42095670173751	0.24383	1.334898	0.999147018911726	0.38563	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.02	4.13	0.47661	0.879000	0.27783	1.469000	0.26739	-0.190000	0.09434	0.000000	0.06391	0.001000	0.17328	0.831000	0.39176	0.1463:0.7767:0.0:0.077	9.863	0.40291	797	0.45241	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3376.33	43	chr8	76854030	.	C	T	3376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=1189;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.128;SOR=0.669	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr8	76855923	76855923	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9002T:p.G3001V	.	0	1515	6	1	0	8	0.00263331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0189141440889	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs775483953	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	8.945e-05	0	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.163e-05	6.72e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0004	0.133	0.26965	T	0.02	0.58613	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.999999	0.58761	D	.	.	.	0.76	0.49919	T	-3.4	0.67014	D	0.812	0.83885	-0.8487	0.52058	T	0.188	0.53856	T	10	0.57749903	0.65662	D	0.018914	0.41124	T	0.116	0.32463	.	.	0.151262610727	0.14761	0.3314716088228594	0.33060	0.745215368808	0.63480	0.629379987717	0.57057	T	.	.	.	-0.252592	0.13783	T	-0.304415	0.44256	T	0.0403428257376543	0.03752	T	0.909009	0.75832	D	.	.	.	.	.	.	.	.	-10.121	0.74633	D	.	.	.	.	.	.;.	.;.	4.144916	0.62127	24.4	0.98160377569070678	0.38764	0.90834	0.52348	D	AEFGBCI	0.600726	0.59325	D	0.138983390260452	0.48291	3.043211	0.224317805746591	0.51200	3.304621	0.999999749683575	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.17	5.17	0.70848	5.250000	0.65252	11.936000	0.99985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.345000	0.25546	0.0:0.1405:0.8595:0.0	15.254	0.73267	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2159.33	43	chr8	76855923	.	G	T	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.515;DP=1017;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.071;SOR=0.749	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr8	76863582	76863582	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon11:c.G9868A:p.V3290I	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00257349298082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.14945	T	0.141	0.33442	T	.	.	.	.	.	.	0.030454	0.25306	N	0.186718	0.999381	0.22332	N	.	.	.	0.81	0.48460	T	-0.16	0.09460	N	0.157	0.18239	-1.0361	0.18513	T	0.079	0.31254	T	10	0.1460576	0.27696	T	0.002573	0.05178	T	0.018	0.03083	0.278	0.23164	0.123314135267	0.11883	0.09646966311340009	0.09578	0.128873600519	0.14530	0.447457909584	0.31596	T	.	.	.	-0.247572	0.14399	T	-0.593396	0.13372	T	0.217326045036316	0.21330	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	-3.917	0.22557	T	.	.	.	.	.	.;.	.;.	1.766321	0.22462	15.63	0.63814781426466805	0.07324	0.73643	0.36022	D	AEFBI	0.109981	0.21825	N	-0.260468650551464	0.30687	1.71345	-0.0900954256243544	0.35799	2.075438	0.0148749110446187	0.12648	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.73	3.84	0.43422	1.790000	0.38366	2.308000	0.32059	0.676000	0.76740	0.956000	0.33378	0.995000	0.32472	0.716000	0.34643	0.1567:0.0:0.8433:0.0	10.045	0.41352	795	0.45444	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2687.33	33	chr8	76863582	.	G	A	2687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.68;DP=809;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=2.43;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	78686521	78686521	G	A	exonic	ZC2HC1A	.	nonsynonymous SNV	ZC2HC1A:NM_001362969:exon4:c.G265A:p.A89T,ZC2HC1A:NM_016010:exon4:c.G265A:p.A89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0713750066528	.	.	9.248e-06	0	0	0	0	0	0	6.789e-05	6.5e-06	1	154602	rs780566556	2.861e-06	4.104e-06	1.42e-06	4.324e-06	4.106e-05	6.7e-07	4.5e-07	1.09e-05	5.02e-06	0	0	0	0	0	0	0	1.749e-05	4.106e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.636	0.07059	T	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	0.78	0.49358	T	-1.04	0.27259	N	0.838	0.83371	-0.3177	0.74486	T	0.357	0.71959	T	9	0.6892996	0.71756	D	0.071375	0.71252	D	0.271	0.58633	0.294	0.25720	0.117191471859	0.11215	0.2848400355259639	0.28397	0.480512164529	0.47068	0.8236297369	0.85585	D	0.030231	0.21478	T	-0.0741494	0.40660	T	-0.128952	0.61060	T	0.87306022644043	0.52292	D	0.854615	0.54143	D	0.19517447	0.41296	0.24300578	0.49734	0.19517447	0.41296	0.24300578	0.49733	-4.109	0.25423	T	.	.	0.348	0.56462	A	.	.	5.164947	0.86553	28.9	0.99892234818599135	0.96589	0.98733	0.86156	D	AEFBI	0.869850	0.79056	D	0.891179443012888	0.91321	10.82467	0.854894066838964	0.93300	11.95192	0.999999695453508	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	9.347000	0.96461	11.738000	0.95134	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.429	0.94749	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	33	chr8	78686521	.	G	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.908;DP=790;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.282;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	0	1	0
chr8	85113065	85113066	AG	-	exonic	LRRCC1	.	frameshift deletion	LRRCC1:NM_001349636:exon3:c.231_232del:p.D78Wfs*4,LRRCC1:NM_001349637:exon3:c.42_43del:p.D15Wfs*4,LRRCC1:NM_033402:exon4:c.510_511del:p.D171Wfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1734.29	33	chr8	85113064	.	AAG	A	1734.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.292;DP=716;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.12;ReadPosRankSum=0.205;SOR=0.429	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr8	85332503	85332503	G	A	exonic	CA1	.	nonsynonymous SNV	CA1:NM_001291968:exon4:c.C161T:p.A54V,CA1:NM_001164830:exon5:c.C500T:p.A167V,CA1:NM_001291967:exon5:c.C302T:p.A101V,CA1:NM_001128831:exon6:c.C500T:p.A167V,CA1:NM_001128829:exon7:c.C500T:p.A167V,CA1:NM_001128830:exon7:c.C500T:p.A167V,CA1:NM_001738:exon7:c.C500T:p.A167V	.	424	1000	93	5	0	103	0.0489777	.	.	.	711647	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0069	0.00738818	0.0091	0.0008	0.0062	0	0.0053	0.0120	0.0188	0.0101	0.0090684	1402	154602	rs61734485	0.0083	0.0083	0.0078	0.0088	0.0480	0.0082	0.0081	0.0433	0.0415	0.0022	0.0072	0.0352	2.527e-05	0.0063	0.0480	0.0077	0.0106	0.0110	0.0071	0.0070	0.0072	0.0069	0.0091	0.0067	0.0066	0.0083	0.0081	0.0015	0.0220	0.0084	0.0329	0	0.0061	0.0272	0.0089	0.0142	0.0091	0.041	0.44694	D	0.499	0.17910	T	0.45	0.36066	B	0.144	0.33818	B	0.263341	0.15271	N	0.669489	0.999997	0.25329	N	2.745	0.80253	M	-0.28	0.67543	T	-1.62	0.44657	N	0.176	0.18920	-0.8815	0.49642	T	0.091	0.34874	T	10	0.007727623	0.00175	T	.	.	.	0.145	0.38592	.	.	0.73447084507	0.73210	0.3681289320262565	0.36726	0.0410110934837	0.04401	0.281334668398	0.07679	T	0.068996	0.33598	T	-0.399058	0.02348	T	-0.333671	0.41060	T	0.00874550681318089	0.00108	T	0.833317	0.56350	T	0.26060283	0.49116	0.24295774	0.49728	0.34881502	0.56974	0.24295774	0.49727	-6.553	0.50694	T	0.2323406808646329	0.31446	0.124	0.26010	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.317641	0.17215	13.03	0.96525085045259451	0.30129	0.48464	0.28213	N	AEFI	0.261359	0.37932	N	-0.341041418075239	0.27603	1.515762	-0.427219303761543	0.24202	1.324005	4.52593591734053E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.39	0.21325	1.381000	0.33969	1.567000	0.27393	0.618000	0.50648	0.049000	0.21372	0.004000	0.18990	0.546000	0.30079	0.0946:0.1684:0.3902:0.3467	2.502	0.04354	806	0.43582	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	C8orf59|C8orf59|C8orf59	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial	rs61734485	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.044814	0.025253	0.054348	0.061404	0.000000	0.043103	0.033537	0.034091	0.02632	972.33	34	chr8	85332503	.	G	A	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.853;DP=690;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.046;SOR=0.336	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	18	0	1	0
chr8	86064186	86064186	C	T	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.G631A:p.G211R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0113747549953	0.0007	0.00139776	0.0013	0.0003	0.0006	0.0001	0.0002	0.0013	0	0.0038	0.0012225	189	154602	rs36074412	0.0009	0.0009	0.0008	0.0011	0.0109	0.0009	0.0009	0.0088	0.0080	0.0005	0.0008	0.0001	5.038e-05	1.872e-05	0.0109	0.0007	0.0017	0.0042	0.0008	0.0008	0.0007	0.0008	0.0037	0.0007	0.0006	0.0024	0.0020	0.0003	0	0.0005	0	0.0004	0	0.0068	0.0011	0.0024	0.0037	1.0	0.00964	T	0.644	0.06881	T	0.078	0.24389	B	0.023	0.19966	B	.	.	.	.	0.615365	0.32658	D	1.05	0.26816	L	-0.13	0.64818	T	0.89	0.01641	N	0.144	0.14480	-0.9096	0.46904	T	0.121	0.42187	T	9	0.004502952	0.00093	T	0.011375	0.28926	T	0.023	0.04649	0.206	0.12216	0.658254632336	0.65539	0.3271381259269111	0.32626	0.0922326858659	0.10410	0.397369801998	0.24703	T	4.92E-4	0.00182	T	-0.477942	0.00760	T	-0.459451	0.26660	T	0.0143551746311601	0.00287	T	0.847115	0.52772	T	0.16087216	0.36058	0.2331823	0.48500	0.16087216	0.36058	0.2331823	0.48499	-2.9	0.09143	T	.	.	0.103	0.18580	B	.	.	2.227871	0.28438	17.80	0.78265554204685328	0.12226	0.62259	0.31727	D	AEFBI	0.157864	0.28344	N	-0.358722249567327	0.26953	1.475029	-0.173423857418489	0.32518	1.850816	0.999506762128994	0.40062	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	5.1	4.22	0.49153	1.392000	0.34095	2.967000	0.35781	0.599000	0.40250	0.962000	0.33725	0.992000	0.31684	0.993000	0.69303	0.0:0.9109:0.0:0.0891	11.380	0.48995	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.02632	2327.33	42	chr8	86064186	.	C	T	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=865;ExcessHet=0;FS=0.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.093;SOR=0.787	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1309	18	0	1	0
chr8	86064245	86064245	T	C	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A572G:p.Y191C	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.056480731205	0.0002	0.000199681	0.0003	0	0	0.0001	0	5.997e-05	0	0.0018	0.0002329	36	154602	rs368729222	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	0	2.236e-05	0	2.519e-05	0	0.0007	5.126e-05	0.0002	0.0023	0.0001	0.0001	7.711e-05	0.0002	0.0027	7.573e-05	6.278e-05	0.0016	0.0013	0	0	6.541e-05	0	0.0002	0	0	4.41e-05	0	0.0027	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	0.780154	0.34256	D	1.02	0.25474	L	-0.14	0.65006	T	-8.41	0.97155	D	0.825	0.82057	-0.6398	0.63154	T	0.216	0.57771	T	9	0.25533473	0.42925	T	0.056481	0.66621	D	0.490	0.77720	.	.	0.78808986659	0.78612	0.3704986516367026	0.36963	0.203621729601	0.22778	0.455802619457	0.32736	T	0.035279	0.23656	T	-0.136866	0.30390	T	0.0244577	0.71919	D	0.335279413679285	0.26436	T	0.887811	0.61653	D	0.5924301	0.72283	0.61264354	0.77461	0.5924301	0.72284	0.61264354	0.77462	-9.096	0.68311	D	.	.	0.127	0.27100	B	.	.	3.430010	0.47670	22.5	0.99778780317387783	0.86606	0.91979	0.54678	D	AEFBI	0.446172	0.50234	N	0.219688213524021	0.52154	3.391424	0.206035714241199	0.50182	3.212961	0.999610258303695	0.40981	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.542086	0.14980	0	.	.	5.1	2.51	0.29435	2.874000	0.48181	-1.112000	0.06295	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.997000	0.79791	0.1537:0.094:0.0:0.7523	5.265	0.14909	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2175.33	42	chr8	86064245	.	T	C	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=932;ExcessHet=0;FS=3.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.073;SOR=0.984	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1309	18	0	1	0
chr8	86069622	86069622	T	C	exonic	PSKH2	.	startloss	PSKH2:NM_033126:exon1:c.A1G:p.M1?	.	453	1057	12	0	0	12	0.0056444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0004	0.000599042	0.0009	0	0	0	0	0.0002	0.0026	0.0043	0.0004398	68	154602	rs200752513	0.0005	0.0005	0.0004	0.0006	0.0043	0.0005	0.0005	0.0039	0.0037	6.61e-05	8.225e-05	0	2.706e-05	0	0.0010	0.0003	0.0005	0.0043	0.0004	0.0004	0.0003	0.0004	0.0051	0.0003	0.0003	0.0035	0.0030	4.822e-05	0	0.0001	0	0	0	0	0.0004	0.0005	0.0051	0.0	0.91255	D	0.0	0.92824	D	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	-0.28	0.67543	T	-1.47	0.35991	N	0.673	0.68082	-0.8258	0.53569	T	0.191	0.54345	T	8	0.046052784	0.03750	T	0.302571	0.90930	D	0.323	0.64522	.	.	0.696333785881	0.69371	0.5229432595096636	0.52217	.	.	.	.	.	0.015715	0.13127	T	-0.196774	0.21271	T	-0.0572186	0.66525	T	0.270062162475047	0.23750	T	0.9	0.65058	D	0.9411315	0.95363	0.88732743	0.94078	0.9411315	0.95363	0.88732743	0.94078	-13.35	0.90754	D	.	.	.	.	.	.	.	1.382347	0.17940	13.46	0.94825287291408156	0.25599	0.70718	0.34707	D	AEFDBI	0.014718	0.00246	N	-0.405368891582014	0.25280	1.371164	-0.376205552053252	0.25709	1.415443	0.999710795678471	0.42101	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.59	3.41	0.38145	0.687000	0.25088	1.053000	0.23654	0.609000	0.47794	0.674000	0.28384	0.981000	0.30433	0.128000	0.19490	0.0:0.0:0.2045:0.7955	8.139	0.30229	487	0.76954	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003093	0.000000	0.001370	0.000000	0.000000	0.008621	0.006369	0.015504	0.02632	214.49	9	chr8	86069622	.	T	C	214.49	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=337;ExcessHet=0;FS=0;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.33;SOR=0.399	GT:AD:DP:GQ:PL	0/0:15,0:15:4:0,4,389	18	0	1	0
chr8	86939676	86939676	C	T	exonic	CNBD1	.	nonsynonymous SNV	CNBD1:NM_173538:exon4:c.C353T:p.A118V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0419412673061	.	.	4.156e-05	0	0	0	0	1.504e-05	0	0.0002	3.23e-05	5	154602	rs772737111	1.314e-05	1.437e-05	6.884e-06	1.944e-05	0.0001	8.4e-06	6.77e-06	5.485e-05	4.106e-05	6.061e-05	0	0	0	0	0	7.268e-06	0	0.0001	6.576e-06	6.569e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.843	0.02789	T	0.0	0.92824	D	0.02	0.18235	B	0.008	0.13708	B	0.053815	0.22777	N	0.368557	1	0.08975	N	0.895	0.22405	L	-4.09	0.96627	D	-0.13	0.08971	N	0.169	0.17966	-0.1472	0.78985	T	0.739	0.91080	D	10	0.03512308	0.01747	T	0.041941	0.60201	D	0.095	0.27398	0.208	0.12497	0.229264304666	0.22521	0.14531871723474984	0.14454	0.00484473599278	0.00428	0.299124121666	0.10271	T	0.00611	0.05549	T	-0.221598	0.17776	T	-0.35058	0.39139	T	0.0322410144546681	0.02345	T	0.456254	0.13085	T	0.021773446	0.00799	0.023994198	0.00414	0.021773446	0.00798	0.023994198	0.00414	-2.954	0.09694	T	.	.	0.145	0.31882	B	.	.	0.010189	0.04355	1.114	0.57861236346206424	0.05863	0.01053	0.03920	N	AEFI	0.025763	0.01820	N	-0.886401477503169	0.11165	0.5373562	-0.942137249410816	0.11106	0.5637781	2.90415487462138E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	1.24	0.20416	0.058000	0.14178	-0.209000	0.10871	0.539000	0.25131	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.2265:0.3606:0.0:0.4129	2.358	0.04038	715	0.56137	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	634.33	34	chr8	86939676	.	C	T	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.252;DP=703;ExcessHet=0;FS=1.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.909;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	18	0	1	0
chr8	89784141	89784143	TAA	-	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487635866	2.019e-05	3.64e-05	4.634e-06	3.477e-05	3.947e-05	1.049e-05	6.87e-06	1.18e-05	8.81e-06	0	0	0	0	0	0	2.514e-05	0	3.947e-05	0.0003	0.0006	0.0004	0.0001	0.0011	0.0001	9.507e-05	0.0002	7.938e-05	9.582e-05	0	0.0011	0	0	0.0024	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	383.72	15	chr8	89784140	.	GTAA	G	383.72	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=481;ExcessHet=0.119;FS=7.059;InbreedingCoeff=-0.0788;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=3.87;SOR=1.85	GT:AD:DP:GQ:PL	0/0:19,0:19:14:0,14,549	17	0	2	0
chr8	89784141	89784145	TAAAA	0	splicing	RIPK2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	406.09	4	chr8	89784141	.	TAAAA	*	406.09	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=362;ExcessHet=1.9404;FS=6.709;InbreedingCoeff=-0.234;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.231;SOR=1.431	GT:AD:DP:GQ:PL	0/0:1,0:3:1:31,34,41	8	0	2	9
chr8	90645732	90645732	-	GCTGCCGCCGCC	exonic	TMEM64	.	nonframeshift insertion	TMEM64:NM_001008495:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA,TMEM64:NM_001146273:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294690554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-05	1.319e-05	2.639e-05	0	6.713e-05	2.25e-06	8.4e-07	.	.	2.445e-05	0	6.713e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	452.25	6	chr8	90645732	.	T	TGCTGCCGCCGCC	452.25	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.921;DP=142;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0811;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.301;SOR=0.509	GT:AD:DP:GQ:PL	0/1:4,9:13:99:361,0,138	16	0	2	1
chr8	90949839	90949839	G	A	exonic	NECAB1	.	nonsynonymous SNV	NECAB1:NM_022351:exon11:c.G893A:p.R298H	.	.	.	.	.	.	.	.	.	.	.	3555755	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0122202122275	.	.	1.081e-05	0	0	0.0001	0	0	0	0	2.59e-05	4	154602	rs767867163	5.494e-05	5.678e-05	5.602e-05	5.385e-05	6.677e-05	4.494e-05	4.163e-05	5.441e-05	4.983e-05	0	2.251e-05	0	5.058e-05	0	0	6.677e-05	1.662e-05	2.341e-05	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.042	0.41637	D	0.095	0.39492	T	0.013	0.16609	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.435	0.12660	N	1.45	0.32482	T	-1.01	0.29114	N	0.322	0.36779	-1.0921	0.05191	T	0.063	0.26244	T	10	0.24881649	0.42184	T	0.01222	0.30597	T	0.045	0.12272	0.444	0.50139	0.321951552304	0.31805	0.44265490616651226	0.44182	0.496624975885	0.48164	0.393988251686	0.24230	T	0.021722	0.16866	T	-0.267108	0.12082	T	-0.449001	0.27806	T	0.421645939350128	0.29751	T	0.820618	0.50309	T	0.1252919	0.29375	0.10328728	0.24779	0.1252919	0.29375	0.10328728	0.24778	-6.26	0.48405	T	.	.	0.076	0.06024	B	.;.;.	.;.;.	3.053392	0.40982	21.3	0.99714522291468399	0.81563	0.84025	0.43112	D	AEFI	0.423053	0.48879	N	-0.0545869631669999	0.39397	2.322708	0.118802445639925	0.45512	2.812967	0.982547599569386	0.30416	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.72	4.85	0.62375	3.862000	0.55721	4.885000	0.45705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1551:0.0:0.8449:0.0	10.597	0.44535	605	0.67457	Antibiotic biosynthesis monooxygenase domain|Antibiotic biosynthesis monooxygenase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	33	chr8	90949839	.	G	A	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.25;DP=733;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.119;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr8	91362401	91362401	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon12:c.G460A:p.V154M,SLC26A7:NM_052832:exon12:c.G1363A:p.V455M,SLC26A7:NM_134266:exon12:c.G1363A:p.V455M,SLC26A7:NM_001282356:exon13:c.G1363A:p.V455M	.	438	1077	6	1	0	8	0.00370028	.	.	.	700683	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.458	.	0.0063	0.00139776	0.0052	0.0014	0.0021	0	0.0070	0.0077	0.0022	0.0016	0.0049158	760	154602	rs145779342	0.0065	0.0066	0.0067	0.0064	0.0076	0.0064	0.0064	0.0074	0.0074	0.0016	0.0022	0.0041	0	0.0061	0.0021	0.0076	0.0064	0.0018	0.0050	0.0050	0.0053	0.0048	0.0082	0.0047	0.0046	0.0076	0.0074	0.0009	0.0208	0.0034	0.0026	0	0.0068	0.0068	0.0082	0.0043	0.0021	0.008	0.58626	D	0.009	0.66756	D	0.993	0.73220	D	0.855	0.70672	P	0.002457	0.36537	N	0.194049	0.70784	0.33487	D	0.895	0.22405	L	-3.14	0.92884	D	-0.43	0.15986	N	0.714	0.72477	0.469	0.90106	D	0.651	0.87839	D	10	0.021195978	0.00503	T	.	.	.	0.458	0.75619	.	.	0.845743235612	0.84426	0.6214864548242729	0.62081	0.413517877279	0.42054	0.656804203987	0.60952	T	0.075524	0.35197	T	-0.182711	0.23333	T	-0.027694	0.68521	D	0.00998076788192888	0.00133	T	0.854015	0.53996	D	0.07471273	0.16786	0.11087068	0.26739	0.07471273	0.16786	0.11087068	0.26739	-3.136	0.11714	T	.	.	0.165	0.36475	B	.;.;.;.;.	.;.;.;.;.	3.480827	0.48608	22.6	0.9986294349956516	0.94093	0.83876	0.42968	D	AEFDBI	0.181243	0.30856	N	0.369419519706266	0.59772	4.159491	0.389743695718913	0.60932	4.286517	3.35683401625993E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.664235	0.64389	0	.	.	5.83	4.04	0.46262	3.936000	0.56280	5.790000	0.49863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2192:0.0:0.7808:0.0	9.341	0.37241	770	0.49152	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2051.33	37	chr8	91362401	.	G	A	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=782;ExcessHet=0;FS=5.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.069;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr8	93733500	93733500	C	T	exonic	RBM12B	.	nonsynonymous SNV	RBM12B:NM_001377964:exon2:c.G2911A:p.V971I,RBM12B:NM_001377962:exon3:c.G2911A:p.V971I,RBM12B:NM_001377963:exon3:c.G2911A:p.V971I,RBM12B:NM_203390:exon3:c.G2911A:p.V971I,RBM12B:NM_001377960:exon4:c.G2911A:p.V971I,RBM12B:NM_001377961:exon5:c.G2911A:p.V971I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00563000214119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	1.368e-06	1.364e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.088	0.40586	T	0.817	0.45613	P	0.555	0.49371	P	0.850649	0.08965	N	0.920710	0.99948	0.23169	N	1.72	0.44442	L	2.64	0.12780	T	-0.53	0.18042	N	0.26	0.29429	-1.0523	0.13763	T	0.063	0.26136	T	10	0.22007859	0.38695	T	0.00563	0.14560	T	0.132	0.35948	0.507	0.60232	0.19670166235	0.19296	0.3884899160085329	0.38763	.	.	0.481953263283	0.36325	T	0.013754	0.11837	T	-0.12992	0.31509	T	-0.424397	0.30571	T	0.593131244182587	0.36129	D	0.717028	0.32946	T	0.08600188	0.19972	0.07069653	0.15051	0.08600188	0.19972	0.07069653	0.15051	-5.211	0.39054	T	.	.	0.108	0.20274	B	.;.;.	.;.;.	3.169309	0.42975	21.6	0.99725230674240084	0.82336	0.86360	0.45625	D	AEFBCI	0.394934	0.47199	N	0.430494368214236	0.63106	4.538128	0.473211183218136	0.66220	4.923859	0.999999975763147	0.74766	0.722319	0.85440	0	0.666794	0.63253	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.55	5.55	0.83298	1.694000	0.37371	4.003000	0.41092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.921:0.0:0.079	12.065	0.52879	478	0.77585	RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2369.33	34	chr8	93733500	.	C	T	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=869;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=2.48;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	93795434	93795434	A	G	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon17:c.A1700G:p.Y567C,TMEM67:NM_001142301:exon18:c.A1457G:p.Y486C	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	269753	Meckel-Gruber_syndrome|Joubert_syndrome|not_specified|TMEM67-related_disorder|Intellectual_disability|not_provided|RHYNS_syndrome|COACH_syndrome_1|Bardet-Biedl_syndrome_14|Joubert_syndrome_6|Nephronophthisis_11|Meckel_syndrome,_type_3	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:CN169374|MedGen:CN239423|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0011202,MedGen:C1865794,OMIM:602152,Orphanet:140976|MONDO:MONDO:0800103,MedGen:C5435651,OMIM:216360,Orphanet:1454|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475|MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081|MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.733	0.156010230017	0.0002	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0	9.06e-05	14	154602	rs148726767	5.062e-05	5.062e-05	5.717e-05	4.4e-05	0.0009	4.125e-05	3.778e-05	0.0003	0.0002	0.0002	0.0002	0	2.52e-05	0	0.0009	3.327e-05	0.0002	1.159e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	4.41e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0034	4.41e-05	0	0	0.165	0.24372	T	0.149	0.33000	T	0.999	0.77913	D	0.968	0.71741	D	0.000362	0.45194	D	0.195772	0.999985	0.54805	D	2.665	0.77964	M	-4.22	0.96982	D	-3.1	0.63554	D	0.858	0.85449	1.056	0.98257	D	0.929	0.97641	D	10	0.81791043	0.81015	D	0.15601	0.83685	D	0.733	0.90677	.	.	0.999787485279	0.99978	0.6555895954105879	0.65494	0.343984992891	0.36322	0.695970654488	0.66563	T	0.721285	0.92125	D	0.257227	0.79273	D	0.425199	0.92903	D	0.577224969863892	0.35512	D	0.959604	0.84807	D	0.21262333	0.43619	0.22663823	0.47649	0.21262333	0.43619	0.22663823	0.47648	-10.354	0.76004	D	0.631423443732426	0.70087	0.120	0.24867	B	.;.	.;.	4.972732	0.82304	27.8	0.9979392045269535	0.87928	0.94187	0.60377	D	AEFDBI	0.584083	0.58305	D	0.682238232219929	0.78470	6.877856	0.679222816957779	0.80806	7.381026	0.998501037599346	0.37090	0.651	0.46895	0	0.670034	0.63936	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.56	5.56	0.83678	5.752000	0.68375	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.019	0.80268	583	0.69484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1357.33	35	chr8	93795434	.	A	G	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=759;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.12;SOR=0.672	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1371,0,1532	18	0	1	0
chr8	94380187	94380187	T	G	exonic	RAD54B	.	nonsynonymous SNV	RAD54B:NM_001205263:exon10:c.A1653C:p.L551F,RAD54B:NM_012415:exon12:c.A2205C:p.L735F	Colon cancer, somatic;Lymphoma, non-Hodgkin, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.1034718716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887209060	2.054e-06	2.052e-06	1.362e-06	2.752e-06	8.998e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.998e-07	3.314e-05	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.005	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.82	0.95555	H	-1.14	0.77843	T	-3.8	0.71762	D	0.846	0.84194	0.622	0.92178	D	0.720	0.90386	D	10	0.862853	0.85513	D	0.103472	0.77752	D	0.797	0.93346	0.662	0.79996	0.955859239386	0.95538	0.7790835503258186	0.77859	0.482352734304	0.47196	0.699455857277	0.67065	T	0.857903	0.96822	D	0.370385	0.88073	D	0.294256	0.87921	D	0.997299611568451	0.91218	D	0.967703	0.88280	D	0.52741987	0.68684	0.48577535	0.70236	0.52741987	0.68685	0.48577535	0.70237	-12.06	0.85142	D	.	.	0.667	0.71607	P	.;.	.;.	4.528473	0.71068	25.6	0.99891311637169977	0.96513	0.88137	0.47934	D	AEFBI	0.264121	0.38153	N	0.846447953626875	0.88905	9.757705	0.761156741860401	0.86990	9.06943	0.177696449500874	0.17827	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.83	5.83	0.93059	2.112000	0.41516	3.434000	0.38335	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0854:0.0:0.9146	9.450	0.37883	770	0.49152	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1110.33	36	chr8	94380187	.	T	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=707;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.776;SOR=0.989	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1124,0,942	18	0	1	0
chr8	94432184	94432184	T	C	exonic	FSBP	.	nonsynonymous SNV	FSBP:NM_001256141:exon2:c.A847G:p.K283E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0784051801428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	0.698	0.41805	P	0.151	0.34210	B	0.000034	0.55875	D	0.113064	1	0.81001	D	1.04	0.26193	L	0.47	0.56114	T	-1.99	0.45949	N	0.564	0.58798	-0.8537	0.51711	T	0.135	0.44971	T	9	0.34992167	0.51875	T	0.078405	0.72996	D	0.234	0.53644	0.222	0.14518	0.290962096972	0.28708	.	.	.	.	0.525525331497	0.42404	T	0.05424	0.29669	T	0.0771499	0.61705	D	-0.126956	0.61227	T	0.841134905815125	0.49420	D	0.838616	0.51177	T	0.30271062	0.53147	0.35503945	0.61038	0.30271062	0.53147	0.35503945	0.61037	-5.44	0.41303	T	.	.	0.202	0.42578	B	.	.	3.156267	0.42750	21.6	0.99810965088995929	0.89442	0.97590	0.75750	D	AEFBI	0.903342	0.85231	D	0.373157513639736	0.59970	4.181289	0.478486457397726	0.66567	4.968878	0.999999999992934	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.58	5.58	0.84361	7.340000	0.78530	6.213000	0.55036	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.734	0.77596	688	0.59122	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1092.33	33	chr8	94432184	.	T	C	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=709;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.79;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	0	1	0
chr8	97143114	97143116	TGC	-	exonic	CPQ	.	nonframeshift deletion	CPQ:NM_016134:exon8:c.1350_1352del:p.A453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204022590	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.993e-07	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1503.29	37	chr8	97143113	.	TTGC	T	1503.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=730;ExcessHet=0;FS=1.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.175;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1341	18	0	1	0
chr8	97277438	97277438	G	A	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.C407T:p.P136L	.	.	.	.	.	.	.	.	.	.	.	711668	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00344616969193	0.0029	0.00139776	0.0025	0.0006	0.0005	0	0.0086	0.0033	0.0013	0	0.0024773	383	154602	rs149847102	0.0044	0.0043	0.0045	0.0042	0.0049	0.0043	0.0042	0.0048	0.0048	0.0008	0.0006	0.0002	2.551e-05	0.0096	0	0.0049	0.0036	6.782e-05	0.0029	0.0029	0.0028	0.0030	0.0044	0.0027	0.0026	0.0040	0.0038	0.0006	0	0.0010	0.0003	0	0.0101	0	0.0044	0.0005	0	0.661	0.04685	T	0.547	0.09522	T	0.031	0.20130	B	0.014	0.16862	B	0.397543	0.13170	N	0.571496	0.95924	0.26194	N	2.08	0.57402	M	2.47	0.14783	T	-1.96	0.45404	N	0.151	0.15469	-1.0475	0.15102	T	0.020	0.08266	T	10	0.004634261	0.00097	T	0.003446	0.07755	T	0.044	0.11924	.	.	0.043077524339	0.03247	0.0937840084302968	0.09310	0.941547462996	0.72225	0.587910115719	0.51199	T	0.007177	0.06595	T	-0.604759	0.00136	T	-0.639136	0.09732	T	0.0221202841025847	0.00923	T	0.624238	0.24084	T	0.07861359	0.17911	0.07307501	0.15839	0.07861359	0.17911	0.07307501	0.15838	-4.183	0.26505	T	.	.	0.088	0.11510	B	.	.	2.392290	0.30723	18.52	0.93420051700665718	0.23187	0.16127	0.19243	N	AEFDBCI	0.047024	0.07874	N	-0.407241532407319	0.25215	1.367166	-0.264629529992746	0.29273	1.638668	0.999999468891511	0.74766	0.65757	0.49021	0	0.587265	0.34161	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	4.3	4.3	0.50540	1.106000	0.30712	4.507000	0.43632	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	12.584	0.55761	777	0.48198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1905.33	34	chr8	97277438	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=1118;ExcessHet=0;FS=7.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.64;SOR=0.307	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1212	18	0	1	0
chr8	97644666	97644666	G	A	exonic	MTDH	.	nonsynonymous SNV	MTDH:NM_001363136:exon1:c.G160A:p.V54M,MTDH:NM_001363137:exon1:c.G160A:p.V54M,MTDH:NM_001363138:exon1:c.G160A:p.V54M,MTDH:NM_001363139:exon1:c.G160A:p.V54M,MTDH:NM_178812:exon1:c.G160A:p.V54M	.	423	1095	4	0	0	4	0.00182315	.	.	.	700691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	0.114404321056	0.0039	0.00119808	0.0033	0.0009	0.0017	0	0.0023	0.0050	0.0025	0.0013	0.0032147	497	154602	rs140652237	0.0054	0.0053	0.0054	0.0053	0.0064	0.0053	0.0052	0.0063	0.0062	0.0009	0.0018	0.0008	2.555e-05	0.0023	0.0011	0.0064	0.0051	0.0015	0.0035	0.0035	0.0039	0.0031	0.0063	0.0032	0.0031	0.0058	0.0056	0.0011	0	0.0018	0.0020	0	0.0012	0.0034	0.0063	0.0024	0.0012	0.056	0.38185	T	0.085	0.41074	T	0.815	0.45525	P	0.515	0.48040	P	0.055211	0.22660	N	0.419653	0.873911	0.29155	N	1.1	0.28011	L	2.94	0.09728	T	-0.48	0.15379	N	0.44	0.56833	-1.0822	0.06927	T	0.016	0.06664	T	10	0.009610981	0.00216	T	0.114404	0.79324	D	0.049	0.13647	.	.	0.246926113748	0.24311	0.25403209692120154	0.25317	0.719158927249	0.62122	0.843464791775	0.88622	D	0.057113	0.30476	T	-0.477868	0.00761	T	-0.456589	0.26971	T	0.0461190604930318	0.04806	T	0.882612	0.60317	D	0.2050089	0.42629	0.24680233	0.50198	0.2050089	0.42629	0.24680233	0.50197	-6.46	0.49976	T	.	.	0.243	0.50799	B	.;.	.;.	3.860599	0.55989	23.7	0.99808343618101492	0.89264	0.30538	0.24108	N	ALL	0.252625	0.37227	N	0.182486033470972	0.50359	3.22659	0.292443229291511	0.55096	3.673154	0.999999984686911	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.48	4.55	0.55429	1.047000	0.29976	6.053000	0.53107	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1562:0.8438:0.0	14.974	0.70906	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	406.33	26	chr8	97644666	.	G	A	406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.379;DP=667;ExcessHet=0;FS=2.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.13;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	18	0	1	0
chr8	97805441	97805441	A	C	exonic	LAPTM4B	.	nonsynonymous SNV	LAPTM4B:NM_018407:exon2:c.A188C:p.D63A	.	429	1091	2	0	0	2	0.000915751	.	.	.	4152860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0268656227305	.	0.000199681	0.0002	0	0	0	0.0002	0.0001	0	0.0010	0.0001682	26	154602	rs537353515	8.919e-05	8.962e-05	5.19e-05	0.0001	0.0010	7.645e-05	7.188e-05	0.0006	0.0005	2.999e-05	2.237e-05	0	0	1.873e-05	0.0010	4.151e-05	0.0002	0.0007	8.641e-05	8.583e-05	3.889e-05	0.0001	0.0006	5.012e-05	4.005e-05	0.0002	9.07e-05	0	0	0.0002	0	0	0	0.0035	8.841e-05	0	0.0006	0.011	0.61437	D	0.076	0.42614	T	.	.	.	.	.	.	0.000001	0.84330	D	0.053861	0.994823	0.42431	D	.	.	.	0.89	0.45636	T	-3.61	0.69477	D	0.387	0.42834	-0.6100	0.64403	T	0.271	0.64297	T	10	0.11721143	0.22130	T	0.026866	0.49739	D	0.268	0.58254	.	.	0.635901989608	0.63291	0.85459930379709	0.85422	1.03127363877	0.75435	0.427728354931	0.28898	T	0.058661	0.30903	T	-0.288064	0.09831	T	-0.275715	0.47241	T	0.433894366025925	0.30204	T	0.788221	0.45098	T	0.44726437	0.63868	0.19534387	0.43206	0.44726437	0.63869	0.19534387	0.43205	-7.54	0.57891	D	.	.	0.309	0.54183	B	.;.;.;.	.;.;.;.	5.027556	0.83596	28.1	0.99551861344441483	0.71211	0.97094	0.72654	D	AEFBI	0.924256	0.90201	D	0.426710953277776	0.62895	4.513255	0.484065357098313	0.66932	5.017073	0.999999764767972	0.74766	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.631631	0.49550	0	.	.	5.07	5.07	0.68106	7.958000	0.87417	9.159000	0.78982	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.653	0.56134	833	0.38804	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	676.33	90	chr8	97805441	.	A	C	676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.84;DP=814;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-0.058;SOR=0.56	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1095	18	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.05263	1216.83	35	chr8	97930977	.	C	T	1216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.869;DP=709;ExcessHet=0.119;FS=0.775;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.53;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I,MATN2:NM_002380:exon13:c.G1828A:p.V610I,MATN2:NM_030583:exon13:c.G1828A:p.V610I	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.000000	0.017241	0.006098	0.011364	0.02632	1344.33	33	chr8	98021213	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=747;ExcessHet=0;FS=2.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.082;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.005435	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	1849.33	39	chr8	98089316	.	C	T	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.002;DP=760;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.318;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr8	98123347	98123347	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon2:c.G10A:p.A4T,POP1:NM_001145861:exon2:c.G10A:p.A4T,POP1:NM_015029:exon2:c.G10A:p.A4T	Anauxetic dysplasia 2, Autosomal recessive	422	1090	9	1	0	11	0.00502054	.	.	.	736779	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.149	.	0.0016	0.0061901	0.0059	0.0011	0.0007	0	0	0.0020	0.0078	0.0337	0.0051228	792	154602	rs145484648	0.0036	0.0036	0.0026	0.0045	0.0343	0.0035	0.0034	0.0332	0.0328	0.0003	4.474e-05	0.0094	2.521e-05	0.0002	0.0054	0.0015	0.0044	0.0343	0.0019	0.0019	0.0016	0.0023	0.0327	0.0017	0.0017	0.0285	0.0269	0.0005	0	6.539e-05	0.0095	0	9.436e-05	0	0.0012	0.0005	0.0327	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.000000	0.573212	0.31161	N	2.695	0.78878	M	0.17	0.60485	T	-1.55	0.37566	N	0.489	0.52297	-0.3875	0.72420	T	0.283	0.65537	T	10	0.006253153	0.00141	T	.	.	.	0.149	0.39377	.	.	0.753700496871	0.75147	0.545649588371386	0.54490	0.715607625372	0.61963	0.76432621479	0.76574	T	0.030538	0.21626	T	-0.272539	0.11475	T	-0.138498	0.60248	T	0.0533092230267153	0.06073	T	0.817118	0.47377	T	0.4112562	0.61504	0.42909402	0.66602	0.35116738	0.57158	0.42909402	0.66602	-4.38	0.29285	T	.	.	0.663	0.76668	P	.;.;.	.;.;.	4.920543	0.81045	27.5	0.99900096677883032	0.97199	0.95124	0.63526	D	AEFBI	0.412080	0.48230	N	0.577566730686476	0.71777	5.702617	0.58000205385397	0.73508	5.981853	0.906125806415814	0.26223	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	4.583000	0.60675	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.626	0.76609	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.008772	0.050000	0.000000	0.009146	0.007576	0.02632	266.33	33	chr8	98123347	.	G	A	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.66;ReadPosRankSum=1.03;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr8	98157911	98157911	G	T	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon16:c.G2715T:p.R905S,POP1:NM_001145861:exon16:c.G2715T:p.R905S,POP1:NM_015029:exon16:c.G2715T:p.R905S	Anauxetic dysplasia 2, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00799448243859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.56640	D	0.116	0.26475	B	0.025	0.20508	B	0.000054	0.53742	D	0.160503	0.894284	0.27824	N	0	0.06538	N	2.48	0.14657	T	-1.44	0.35399	N	0.126	0.13626	-1.0174	0.24560	T	0.017	0.07045	T	10	0.093334675	0.16508	T	0.007994	0.21188	T	0.021	0.04004	0.312	0.28612	0.358744678677	0.35482	0.30577009373640196	0.30490	0.239339673074	0.26486	0.326010525227	0.14331	T	0.016156	0.13408	T	-0.239432	0.15421	T	-0.581704	0.14394	T	0.811327517032623	0.47142	D	0.760924	0.38541	T	0.5620994	0.70626	0.255363	0.51218	0.5620994	0.70627	0.255363	0.51217	-7.321	0.56345	T	.	.	0.589	0.68416	P	.;.	.;.	3.268920	0.44742	22.0	0.99175161448792748	0.54498	0.95249	0.63992	D	AEFBI	0.460867	0.51087	N	-0.298972687245619	0.29188	1.61643	-0.0836138994512366	0.36067	2.094291	0.999999575430257	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.67	4.78	0.60666	2.017000	0.40600	5.814000	0.50030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1641:0.0:0.8359:0.0	9.404	0.37614	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1852.33	33	chr8	98157911	.	G	T	1852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.566;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.274;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	18	0	1	0
chr8	98192995	98192995	C	T	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon11:c.G1135A:p.E379K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.252172432661	.	0.00119808	0.0008	0	0.0002	0.0001	0	0	0	0.0055	0.0006533	101	154602	rs540816475	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0003	0.0056	0.0054	2.99e-05	2.236e-05	0	2.52e-05	0	0.0009	9.008e-07	0.0003	0.0060	0.0002	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.011	0.55530	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.75	0.90792	D	-0.91	0.24460	N	0.347	0.38848	-0.0362	0.81500	T	0.602	0.85859	D	8	0.008100033	0.00184	T	0.252172	0.89162	D	0.286	0.60456	0.266	0.21261	0.867755449348	0.86647	0.3290673790000483	0.32819	.	.	.	.	.	.	.	.	-0.217242	0.18370	T	-0.0824954	0.64720	T	0.0338127748412578	0.02606	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06710	B	.	.	3.846372	0.55689	23.6	0.99786497496599857	0.87308	0.88304	0.48171	D	AEFDGBI	0.350786	0.44411	N	0.0924827931990651	0.46114	2.856743	0.273957999325908	0.54022	3.568701	0.999994904355394	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.579976	0.35079	0	.	.	5.81	5.81	0.92413	3.248000	0.51131	6.006000	0.52567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9217:0.0:0.0783	12.522	0.55413	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1757.33	37	chr8	98192995	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=793;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.128;SOR=0.431	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	98222544	98222544	T	G	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon5:c.A493C:p.T165P,NIPAL2:NM_001321636:exon5:c.A493C:p.T165P,NIPAL2:NM_024759:exon5:c.A493C:p.T165P	.	430	1065	26	1	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	0.0011	0.0375399	0.0193	0.0012	0.0202	0.2057	0	0.0013	0.0165	0.0132	0.017613	2723	154602	rs77774174	0.0072	0.0072	0.0072	0.0073	0.1687	0.0071	0.0071	0.1653	0.1639	0.0009	0.0173	0.0040	0.1687	5.616e-05	0.0062	0.0008	0.0141	0.0133	0.0094	0.0094	0.0078	0.0110	0.1924	0.0090	0.0088	0.1825	0.1785	0.0011	0	0.0116	0.0066	0.1924	0.0002	0.0068	0.0010	0.0137	0.0170	0.37	0.11586	T	0.186	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.056835	0.22529	N	0.459579	0.795011	0.29181	N	0.915	0.23335	L	-2.69	0.90451	D	-1.12	0.28906	N	0.056	0.02759	-0.3131	0.74617	T	0.553	0.83644	D	10	0.0015859604	0.00018	T	.	.	.	0.420	0.72930	.	.	.	.	0.606460631242737	0.60577	0.198447039188	0.22225	0.412601977587	0.26817	T	0.388325	0.74903	T	-0.351197	0.04652	T	-0.133426	0.60682	T	0.00200710036842292	0.00021	T	0.521748	0.17009	T	0.20699102	0.42892	0.13713561	0.32787	0.20699102	0.42891	0.13713561	0.32786	-6.81	0.52633	T	.	.	0.075	0.10062	B	.;.	.;.	2.022096	0.25697	16.86	0.98626904810657023	0.43852	0.73112	0.35767	D	AEFBI	0.310864	0.41676	N	-0.280823762495684	0.29888	1.66157	-0.137897212033714	0.33877	1.942581	0.443869239457615	0.20476	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.71	3.3	0.36912	0.499000	0.22254	1.994000	0.30091	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1491:0.0802:0.0:0.7707	5.746	0.17388	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1762.33	33	chr8	98222544	.	T	G	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.186;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1393	18	0	1	0
chr8	99481683	99481683	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon25:c.A3751G:p.T1251A,VPS13B:NM_152564:exon25:c.A3751G:p.T1251A	Cohen syndrome, Autosomal recessive	2	1499	20	1	0	22	0.00728477	.	.	.	101746	not_specified|Inborn_genetic_diseases|Cohen_syndrome|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0002	0.00379393	0.0015	0	0.0003	0.0001	0.0002	0.0004	0.0055	0.0088	0.0013842	214	154602	rs184693266	0.0008	0.0008	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	5.974e-05	0.0005	0	5.039e-05	7.488e-05	0.0054	0.0002	0.0013	0.0082	0.0005	0.0005	0.0003	0.0008	0.0116	0.0004	0.0004	0.0092	0.0083	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0116	0.727	0.04817	T	0.552	0.09425	T	0.0	0.02946	B	0.0	0.01387	B	0.497181	0.11991	N	0.770342	0.999999	0.08975	N	-0.895	0.01383	N	1.06	0.39781	T	-0.02	0.07299	N	0.036	0.01068	-1.0165	0.24852	T	0.037	0.15813	T	10	0.0035998523	0.00065	T	.	.	.	0.070	0.20419	.	.	0.124217242631	0.12060	0.12317927300670956	0.12243	0.120175073764	0.13532	0.248080730438	0.03569	T	0.042896	0.26329	T	-0.69357	0.00040	T	-0.762644	0.03018	T	0.00169551011719796	0.00017	T	0.219778	0.02813	T	0.030021513	0.02593	0.03186478	0.01838	0.026885988	0.01805	0.0373216	0.03361	-3.773	0.20864	T	0.11245528078136643	0.09731	0.057	0.00553	B	.;.	.;.	-0.278280	0.02713	0.356	0.092862124846269573	0.00091	0.01469	0.04901	N	AEFDBI	0.021731	0.01002	N	-1.49096321422088	0.01913	0.08396976	-1.37595365088472	0.03510	0.163874	0.00875703580111092	0.11735	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.08	2.3	0.27735	1.090000	0.30514	0.173000	0.15542	-0.748000	0.03609	0.166000	0.23880	0.000000	0.08366	0.003000	0.05239	0.2288:0.0:0.7712:0.0	10.708	0.45162	508	0.75398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	634.33	44	chr8	99481683	.	A	G	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=699;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.768;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	18	0	1	0
chr8	99717308	99717308	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon37:c.G6667A:p.G2223R,VPS13B:NM_152564:exon37:c.G6592A:p.G2198R	Cohen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1366522	Cohen_syndrome|VPS13B-related_disorder	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.320	0.151022493867	.	.	2.474e-05	0	0.0002	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs751576277	2.121e-05	2.121e-05	2.042e-05	2.2e-05	0.0001	1.52e-05	1.324e-05	4.36e-05	2.768e-05	0	0.0001	3.827e-05	2.52e-05	0	0	1.889e-05	3.312e-05	1.159e-05	1.315e-05	1.314e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999989	0.81001	D	2.215	0.62545	M	-0.45	0.69896	T	-2.56	0.55339	D	0.802	0.84401	-0.1750	0.78305	T	0.416	0.76258	T	10	0.7867811	0.78315	D	0.151022	0.83263	D	0.320	0.64215	0.2	0.11384	0.893380714402	0.89232	0.6623334775527869	0.66170	0.604559867307	0.55388	0.755929708481	0.75323	T	0.115953	0.43492	T	-0.0948012	0.37284	T	-0.118906	0.61892	T	0.581698001209236	0.35684	D	0.938806	0.76978	D	0.47105342	0.65355	0.40271083	0.64747	0.47105342	0.65356	0.40271083	0.64747	-4.1	0.25290	T	0.6420321217396915	0.71290	0.365	0.57529	A	.;.	.;.	4.443023	0.68994	25.3	0.99877470690862591	0.95410	0.98565	0.84156	D	AEFI	0.847868	0.76471	D	0.663207164547628	0.77225	6.634165	0.627601611560033	0.76952	6.58681	0.999996334035653	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.27	4.39	0.52211	8.919000	0.92353	9.874000	0.82149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0732:0.0:0.9268:0.0	14.024	0.64094	448	0.79501	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	41	chr8	99717308	.	G	A	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=682;ExcessHet=0;FS=4.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.645;SOR=0.283	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr8	99887614	99887614	C	T	exonic	COX6C	.	nonsynonymous SNV	COX6C:NM_004374:exon3:c.G119A:p.R40H	.	438	1083	1	0	0	1	0.000461467	.	.	.	2360998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00248302562393	.	.	9.85e-05	0	0.0003	0	0	1.638e-05	0	0.0005	9.06e-05	14	154602	rs746221706	6.193e-05	6.43e-05	5.123e-05	7.275e-05	0.0005	5.115e-05	4.752e-05	0.0004	0.0003	6.362e-05	5.229e-05	3.967e-05	0	0	0	3.534e-05	5.058e-05	0.0005	1.316e-05	1.314e-05	1.286e-05	1.347e-05	6.551e-05	2.19e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.056	0.38185	T	0.449	0.12993	T	0.634	0.40281	P	0.105	0.31087	B	0.248057	0.15569	N	0.659654	0.999833	0.20152	N	.	.	.	.	.	.	-0.18	0.09796	N	0.068	0.04913	-1.0534	0.13466	T	0.069	0.28346	T	8	0.09627494	0.17256	T	0.002483	0.04925	T	0.096	0.27654	0.504	0.59770	0.0762999501168	0.06990	0.2912787653154904	0.29040	0.144928382742	0.16372	0.330502867699	0.15011	T	0.104386	0.41391	T	-0.436253	0.01361	T	-0.555556	0.16796	T	0.0505055306950818	0.05588	T	0.521048	0.16963	T	0.027178459	0.01873	0.049006365	0.07400	0.027178459	0.01873	0.049006365	0.07400	-5.635	0.43111	T	.	.	0.120	0.24934	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.020577	0.13998	10.57	0.98896556169380956	0.48109	0.30669	0.24142	N	AEFBI	0.390856	0.46952	N	-0.979585933278429	0.09040	0.4262364	-1.04967789256647	0.08713	0.4297829	0.931893897190146	0.27067	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	-3.48	0.04438	-0.199000	0.09493	0.021000	0.13590	-2.010000	0.00442	0.003000	0.16062	0.072000	0.22236	0.331000	0.25224	0.0:0.8679:0.1321:0.0	25.831	0.99995	458	0.78890	Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs;Mitochondrial cytochrome c oxidase subunit VIc/VIIs	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1271.33	34	chr8	99887614	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=743;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.421;SOR=1.105	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr8	99962750	99962750	T	C	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon24:c.A3184G:p.N1062D,RGS22:NM_001286692:exon26:c.A3691G:p.N1231D,RGS22:NM_015668:exon26:c.A3727G:p.N1243D	.	441	1075	6	0	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0136603864234	.	.	0.0002	0	8.693e-05	0	0	3.007e-05	0	0.0016	0.000194	30	154602	rs12546559	0.0001	0.0001	6.136e-05	0.0001	0.0014	8.998e-05	8.481e-05	0.0012	0.0011	0	0	0	0	0	0.0007	2.16e-05	9.955e-05	0.0014	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0006	0.328	0.13219	T	0.533	0.12107	T	0.281	0.34918	B	0.11	0.37837	B	0.012013	0.29322	N	0.220011	1	0.08975	N	2.075	0.57047	M	1.46	0.32238	T	-0.36	0.16393	N	0.154	0.24385	-1.0453	0.15738	T	0.066	0.27225	T	10	0.01876694	0.00411	T	0.01366	0.33231	T	0.042	0.11227	.	.	0.525664996154	0.52213	0.16901058394887333	0.16821	0.127101656324	0.14323	0.385580599308	0.23045	T	0.002015	0.08662	T	-0.606184	0.00134	T	-0.693959	0.06162	T	0.029836356761753	0.01964	T	0.634137	0.24845	T	0.053219397	0.10038	0.06794445	0.14126	0.053219397	0.10038	0.06794445	0.14125	-2.934	0.09487	T	.	.	0.107	0.19879	B	.;.;.;.	.;.;.;.	1.524339	0.19565	14.33	0.97416287866221252	0.33850	0.61416	0.31478	D	AEFI	0.104255	0.20864	N	-0.404868317287991	0.25297	1.372252	-0.378263070191243	0.25646	1.411658	1.73111461959908E-4	0.05786	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.87	2.2	0.26966	0.460000	0.21635	1.272000	0.25297	0.609000	0.47794	0.886000	0.31111	0.722000	0.26360	0.305000	0.24618	0.0:0.0:0.3492:0.6508	9.160	0.36176	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	853.33	30	chr8	99962750	.	T	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.042;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	18	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K	.	657	859	1	5	0	11	0.00636206	.	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2132.33	33	chr8	100137646	.	A	T	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=755;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-1.177;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	18	0	1	0
chr8	100177928	100177928	T	C	exonic	SPAG1	.	nonsynonymous SNV	SPAG1:NM_001374321:exon4:c.T413C:p.L138P,SPAG1:NM_003114:exon4:c.T413C:p.L138P,SPAG1:NM_172218:exon4:c.T413C:p.L138P	Ciliary dyskinesia, primary, 28, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523422	Primary_ciliary_dyskinesia_28|SPAG1-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.00648168549014	0.0011	0.000399361	0.0003	0.0034	0.0002	0	0	3e-05	0	0	0.0002717	42	154602	rs141605537	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.578e-05	0.0024	0.0022	0.0028	0.0002	0	0	0	0.0003	4.321e-05	0.0003	1.161e-05	0.0008	0.0009	0.0009	0.0008	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	0.0005	0	0	0	0	4.409e-05	0.0014	0	0.219	0.23360	T	0.208	0.28482	T	0.005	0.12996	B	0.006	0.12133	B	0.866255	0.08858	N	0.932415	0.992872	0.23810	N	1.575	0.39704	L	2.66	0.12575	T	-3.15	0.65056	D	0.137	0.13626	-0.9749	0.36148	T	0.027	0.11397	T	10	0.005811155	0.00130	T	0.006482	0.17072	T	0.028	0.06331	.	.	0.356281029322	0.35234	0.3174705843129795	0.31660	0.249414558218	0.27514	0.364760518074	0.20077	T	0.045214	0.27053	T	-0.56485	0.00237	T	-0.58625	0.13992	T	0.0169248882375179	0.00443	T	0.467953	0.13790	T	0.17669392	0.38595	0.31107286	0.57115	0.25559536	0.48594	0.2549496	0.51168	-6.663	0.52433	T	0.12230266926588025	0.11704	0.062	0.01470	B	.;.;.;.	.;.;.;.	2.044059	0.25985	16.96	0.92630292446781171	0.22101	0.42962	0.26993	N	AEFDI	0.135493	0.25585	N	-0.509890703039719	0.21759	1.157115	-0.451352085693648	0.23510	1.282488	0.0027513706255332	0.09683	0.638212	0.43195	0	0.633656	0.55848	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	4.47	3.0	0.33773	2.320000	0.43456	1.329000	0.25656	0.609000	0.47794	0.946000	0.32893	0.326000	0.24349	0.834000	0.39329	0.0:0.176:0.0:0.824	5.477	0.15996	229	0.91079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	860.33	34	chr8	100177928	.	T	C	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.076;DP=702;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.827;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1041	18	0	1	0
chr8	100213407	100213407	A	G	exonic	SPAG1	.	nonsynonymous SNV	SPAG1:NM_001374321:exon11:c.A1414G:p.I472V,SPAG1:NM_003114:exon11:c.A1414G:p.I472V,SPAG1:NM_172218:exon11:c.A1414G:p.I472V	Ciliary dyskinesia, primary, 28, Autosomal recessive	385	1123	14	0	0	14	0.00619469	.	.	.	240216	Primary_ciliary_dyskinesia_28|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0014216,MedGen:C3809706,OMIM:615505,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	.	0.00439297	0.0272	0	0.0323	0	0	0.0083	0.0526	0.0424	0.0017982	278	154602	rs373038988	0.0057	0.0055	0.0051	0.0062	0.0245	0.0056	0.0055	0.0235	0.0231	0.0007	0.0018	0.0080	7.082e-05	0.0003	0.0030	0.0050	0.0059	0.0245	0.0036	0.0036	0.0037	0.0036	0.0270	0.0034	0.0033	0.0232	0.0218	0.0011	0	0.0007	0.0087	0	0.0007	0	0.0048	0.0014	0.0270	0.02	0.49613	D	0.021	0.58089	D	0.07	0.23866	B	0.21	0.37304	B	0.005171	0.33034	N	0.308077	0.999999	0.58761	D	0.995	0.25082	L	0.06	0.61798	T	-0.84	0.22944	N	0.252	0.28498	-0.5648	0.66220	T	0.269	0.64045	T	10	0.005939007	0.00133	T	.	.	.	0.137	0.36984	.	.	0.684459776762	0.68176	0.3961520231866763	0.39530	0.210292740051	0.23518	0.655034422874	0.60701	T	0.043919	0.26654	T	-0.422152	0.01658	T	-0.359571	0.38104	T	0.0116431349813205	0.00178	T	0.677432	0.28627	T	0.16714355	0.37092	0.12228089	0.29496	0.1596584	0.35853	0.12463893	0.30039	-7.678	0.58855	D	0.6129580361333294	0.68070	0.130	0.27762	B	.;.	.;.	2.634141	0.34263	19.58	0.97295654022960187	0.33252	0.79545	0.39437	D	ALL	0.460888	0.51088	N	-0.171127305714419	0.34340	1.958905	-0.142889690678525	0.33682	1.929292	1.0	0.98316	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.581474	0.35302	0	.	.	3.72	3.72	0.41857	2.863000	0.48095	3.312000	0.37472	0.580000	0.29708	0.988000	0.36536	1.000000	0.68203	0.604000	0.31488	1.0:0.0:0.0:0.0	12.520	0.55397	248	0.90287	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006014	0.000000	0.005208	0.000000	0.000000	0.000000	0.013889	0.007812	0.02632	228.33	37	chr8	100213407	.	A	G	228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=-1.746;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1186	18	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V,ANKRD46:NM_001270378:exon3:c.C244G:p.L82V,ANKRD46:NM_001270379:exon3:c.C244G:p.L82V,ANKRD46:NM_198401:exon4:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	30.14	36	chr8	100529590	.	G	C	30.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.105;DP=1254;ExcessHet=0;FS=265.384;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.83;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,17:91:42:.:.:0,42,1796:.	16	0	1	2
chr8	100715564	100715564	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G541A:p.A181T	.	439	1020	63	0	0	63	0.0299572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0340158553091	.	.	0.0025	0.0035	0.0022	0.0022	0.0029	0.0026	0.0045	0.0017	3.84e-05	1	26028	rs201575415	0.0002	0.0051	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0.0002	0.0003	0.0001	2.551e-05	0.0002	0.0002	0.0002	0.0002	0.0012	1.316e-05	0.0003	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.064	0.36912	T	0.235	0.24987	T	0.935	0.52277	P	0.543	0.52749	P	0.000007	0.62929	D	0.000000	0.999998	0.58761	D	1.86	0.49225	L	-2.01	0.85468	D	-1.72	0.40850	N	0.516	0.58968	-0.4866	0.69129	T	0.348	0.71289	T	10	0.04839903	0.04285	T	0.034016	0.55387	D	0.169	0.43123	.	.	0.771171459251	0.76907	0.7074090065815354	0.70682	1.20548367747	0.80694	0.786288261414	0.79878	T	0.135364	0.46714	T	0.117018	0.66071	D	-0.0696881	0.65648	T	0.141958981752396	0.16443	T	0.819218	0.48387	T	0.4579477	0.64543	0.32566392	0.58480	0.4579477	0.64544	0.32566392	0.58479	-8.102	0.61764	D	.	.	0.410	0.65091	A	.;.;.;.	.;.;.;.	4.555899	0.71747	25.7	0.99762505917770328	0.85172	0.97559	0.75543	D	AEFDBCI	0.789396	0.71860	D	0.434520686034361	0.63332	4.564763	0.497820100196361	0.67844	5.138917	0.99999999998101	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	6.081000	0.70951	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.025253	0.008152	0.035088	0.000000	0.017241	0.033537	0.007576	0.02632	46.33	34	chr8	100715564	.	C	T	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=732;ExcessHet=0;FS=1.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.62;MQRankSum=-10.32;QD=0.43;ReadPosRankSum=-2.268;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1055:.	18	0	1	0
chr8	102279179	102279179	A	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon43:c.T6031C:p.S2011P,UBR5:NM_015902:exon43:c.T6031C:p.S2011P	.	435	1083	4	0	0	4	0.00184332	.	.	.	3195321	UBR5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.00567735812683	0.0033	0.00139776	0.0030	0.0005	0.0003	0	0.0015	0.0048	0.0011	0.0017	0.0032147	497	154602	rs35794419	0.0043	0.0043	0.0044	0.0043	0.0052	0.0043	0.0042	0.0051	0.0050	0.0007	0.0007	3.826e-05	0	0.0019	0.0010	0.0052	0.0037	0.0026	0.0032	0.0032	0.0034	0.0029	0.0057	0.0029	0.0028	0.0053	0.0051	0.0011	0	0.0008	0	0	0.0015	0.0034	0.0057	0.0019	0.0027	0.144	0.25255	T	0.261	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.000208	0.47681	D	0.184300	0.872854	0.35597	D	0.345	0.11182	N	0.77	0.49642	T	-1.04	0.27259	N	0.179	0.19325	-1.0759	0.08164	T	0.038	0.16591	T	10	0.0045380294	0.00094	T	0.005677	0.14712	T	0.089	0.25827	.	.	0.0675242888579	0.06100	0.2828771811287362	0.28200	0.862312818367	0.69017	0.466619044542	0.34217	T	0.162631	0.50738	T	-0.558489	0.00259	T	-0.565612	0.15854	T	0.0372322052717209	0.03197	T	0.871813	0.57812	D	0.09069317	0.21230	0.2186153	0.46570	0.09069317	0.21230	0.2186153	0.46569	-4.344	0.28789	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	2.895210	0.38354	20.7	0.99115043232547562	0.52828	0.76011	0.37249	D	AEFBI	0.108417	0.21569	N	-0.438600136204214	0.24129	1.300646	-0.223044676450541	0.30712	1.731601	0.859853993737702	0.25204	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	3.03	0.34070	0.790000	0.26562	3.716000	0.39571	0.756000	0.94297	0.892000	0.31242	1.000000	0.68203	0.999000	0.91618	0.572:0.1:0.0:0.328	7.753	0.28072	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1121.33	34	chr8	102279179	.	A	G	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=702;ExcessHet=0;FS=2.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=0.215;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr8	103402018	103402018	C	T	exonic	SLC25A32	.	nonsynonymous SNV	SLC25A32:NM_030780:exon5:c.G589A:p.A197T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.174619859883	.	.	8.384e-06	0	0	0	0	0	0	6.177e-05	6.5e-06	1	154602	rs778879763	2.738e-06	3.42e-06	2.725e-06	2.752e-06	4.651e-05	6.4e-07	4.3e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	0	0	4.651e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.002	0.79402	D	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.59	0.75718	M	-1.6	0.82165	D	-3.38	0.66780	D	0.825	0.82057	0.401	0.89113	D	0.709	0.89999	D	10	0.8955616	0.88909	D	0.17462	0.85095	D	0.789	0.93028	0.755	0.88484	0.979426274884	0.97920	0.8492950455976853	0.84891	1.01352011035	0.74854	0.624949455261	0.56428	T	0.443583	0.78732	T	0.242703	0.77917	D	0.292377	0.87817	D	0.955321907997131	0.64480	D	0.950005	0.80823	D	0.65078944	0.75407	0.6554881	0.79829	0.65078944	0.75408	0.6554881	0.79830	-10.519	0.76956	D	0.5621440318047725	0.62983	0.738	0.78314	P	.;.	.;.	5.118146	0.85593	28.6	0.999277808598105	0.99163	0.98917	0.88597	D	AEFBI	0.868132	0.78814	D	0.789683568301379	0.85456	8.58135	0.771789943803004	0.87772	9.33938	0.99999999999986	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.43	5.43	0.79006	7.388000	0.79070	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.233	0.93833	320	0.86992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	972.33	33	chr8	103402018	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.384;DP=680;ExcessHet=0;FS=3.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.707;SOR=0.377	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1208	18	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.02632	1526.33	33	chr8	103998243	.	G	A	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=757;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-2.822;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	18	0	1	0
chr8	104447451	104447451	T	-	exonic	DPYS	.	frameshift deletion	DPYS:NM_001385:exon3:c.476delA:p.K159Rfs*12	Dihydropyrimidinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3856661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1057.29	34	chr8	104447450	.	CT	C	1057.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=707;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.398;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr8	109119069	109119069	G	C	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.G811C:p.V271L	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0368772164942	.	0.000199681	8.239e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs556795929	1.643e-05	1.642e-05	1.226e-05	2.064e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0.0002	1.317e-05	1.313e-05	1.289e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.061	0.45530	T	0.874	0.48047	P	0.666	0.52990	P	0.000004	0.62929	D	0.104830	1	0.81001	D	.	.	.	-0.3	0.67874	T	-2.78	0.58896	D	0.709	0.76853	-0.1347	0.79292	T	0.460	0.79038	T	10	0.5331758	0.63299	D	0.036877	0.57267	D	0.491	0.77783	0.624	0.75916	0.862410768355	0.86108	0.7458500230237926	0.74531	0.308317518436	0.33146	0.729915380478	0.71493	T	0.707063	0.91614	D	0.0903713	0.63232	D	0.214002	0.83873	D	0.439836354703644	0.30423	T	0.883212	0.60517	D	0.548173	0.69853	0.5468475	0.73804	0.548173	0.69854	0.5468475	0.73804	-7.214	0.55582	T	0.7201793324352515	0.80122	0.967	0.88983	P	.;.	.;.	4.818514	0.78455	26.9	0.9976915905847652	0.85750	0.98887	0.88185	D	AEFBI	0.928965	0.91399	D	0.80609942663729	0.86486	8.901023	0.827576992571101	0.91642	10.99122	0.999999999370263	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.116000	0.89434	10.007000	0.83074	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.641	0.95751	640	0.64132	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2313.33	34	chr8	109119069	.	G	C	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.334;DP=808;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.44;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr8	109119141	109119141	C	T	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.C883T:p.P295S	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0263245508515	.	.	1.648e-05	0	0	0	0	0	0.0011	6.056e-05	1.29e-05	2	154602	rs756257265	4.791e-06	4.788e-06	1.362e-06	8.255e-06	8.117e-05	1.99e-06	1.28e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	0	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.133	0.34359	T	0.976	0.58310	D	0.812	0.58704	P	0.000004	0.62929	D	0.142348	0.999989	0.54805	D	.	.	.	0.6	0.53731	T	-6.12	0.90060	D	0.433	0.47208	-0.7525	0.57805	T	0.284	0.65635	T	10	0.4834968	0.60570	T	0.026325	0.49245	D	0.242	0.54781	0.437	0.48993	0.79559090563	0.79369	0.4555657329620699	0.45474	0.645929378351	0.58025	0.588007450104	0.51213	T	0.76859	0.93788	D	-0.215567	0.18602	T	-0.344769	0.39804	T	0.828083515167236	0.48382	D	0.751425	0.37327	T	0.24587022	0.47550	0.4747317	0.69559	0.24587022	0.47550	0.4747317	0.69560	-9.115	0.68434	D	0.25354120931562746	0.34295	0.194	0.41495	B	.;.	.;.	4.716406	0.75825	26.4	0.99902934311961711	0.97426	0.91005	0.52675	D	AEFBI	0.375860	0.46023	N	0.570396420313183	0.71333	5.634883	0.598563425504914	0.74836	6.205406	0.706456288529567	0.22765	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	3.068000	0.49716	7.719000	0.67224	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	19.641	0.95751	640	0.64132	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2784.33	34	chr8	109119141	.	C	T	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.676;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr8	109381403	109381403	T	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon3:c.T197A:p.V66D	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0123685796489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416789430	2.801e-06	2.736e-06	2.774e-06	2.828e-06	0.0003	6.6e-07	4.4e-07	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	0	3.382e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.07259	T	0.135	0.34124	T	0.035	0.20614	B	0.011	0.15521	B	0.018134	0.27555	N	0.376327	0.952065	0.37767	D	0.97	0.24054	L	-2.05	0.85799	D	-1.08	0.28084	N	0.462	0.49874	-0.8048	0.54861	T	0.331	0.69834	T	10	0.09664625	0.17349	T	0.012369	0.30882	T	0.326	0.64826	0.553	0.66995	0.154104182512	0.14974	0.6805196984595142	0.67990	0.0405681559294	0.04348	0.34175491333	0.16701	T	0.039131	0.25082	T	-0.00309207	0.51227	T	-0.242218	0.50583	T	0.0467542558908463	0.04920	T	0.692231	0.30167	T	0.113448806	0.26793	0.11330518	0.27344	0.113448806	0.26792	0.11330518	0.27344	-3.084	0.11113	T	.	.	0.081	0.08176	B	.	.	0.615021	0.09835	6.598	0.8821739942631639	0.17806	0.23606	0.22130	N	AEFBI	0.106792	0.21297	N	-0.725337774353231	0.15311	0.7705346	-0.576309776222342	0.20112	1.082072	0.00472044789906454	0.10684	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	2.55	0.29757	-0.165000	0.09957	-0.178000	0.11160	-0.137000	0.12594	0.656000	0.28225	0.128000	0.22971	0.922000	0.45779	0.1445:0.2397:0.0:0.6158	3.980	0.08983	706	0.57215	IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	835.33	33	chr8	109381403	.	T	A	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=703;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.352;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	18	0	1	0
chr8	109412284	109412284	A	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon20:c.A2105C:p.Q702P	.	434	1072	2	0	14	16	0.000931966	.	.	.	3547061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.475	0.0317721617718	0.0020	0.00179712	0.0023	0.0007	0.0012	0.0001	0.0006	0.0019	0	0.0076	0.0021798	337	154602	rs147942629	0.0026	0.0026	0.0023	0.0028	0.0075	0.0025	0.0025	0.0070	0.0069	0.0002	0.0008	0	2.52e-05	0.0006	0.0019	0.0026	0.0020	0.0075	0.0015	0.0015	0.0015	0.0015	0.0072	0.0014	0.0013	0.0054	0.0047	0.0007	0.0044	0.0010	0	0	0.0004	0	0.0021	0.0009	0.0072	0.206	0.19927	T	0.265	0.22694	T	0.318	0.32936	B	0.095	0.30245	B	0.096101	0.20092	N	0.485483	0.855844	0.28429	N	2.38	0.68558	M	-2.07	0.85943	D	-1.7	0.40468	N	0.737	0.73735	-0.3703	0.72952	T	0.470	0.79573	T	10	0.009945482	0.00223	T	0.031772	0.53769	D	0.475	0.76751	.	.	0.233785782151	0.22967	0.8761558476783675	0.87582	0.0604496891235	0.06722	0.490506291389	0.37509	T	0.023788	0.18095	T	-0.149097	0.28453	T	0.018043	0.71504	D	0.0196827363947842	0.00671	T	0.694731	0.30434	T	0.33386075	0.55784	0.3299747	0.58871	0.33386075	0.55785	0.3299747	0.58871	-3.34	0.14259	T	.	.	0.268	0.50185	B	.	.	2.755931	0.36138	20.2	0.97505444314518086	0.34320	0.82882	0.42051	D	AEFDGBCI	0.798638	0.72512	D	0.0655171861048218	0.44859	2.75242	0.185507625330955	0.49053	3.113169	0.999999997763808	0.74766	0.581397	0.33459	0	0.573888	0.26702	0	0.547309	0.15389	0	0.622129	0.49086	0	.	.	4.9	4.9	0.63643	5.009000	0.63753	8.035000	0.76290	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	11.241	0.48199	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.007576	0.02632	1143.33	33	chr8	109412284	.	A	C	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.004;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.648;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	18	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	.	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	484.33	34	chr8	109452281	.	G	A	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.544;DP=672;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.26;SOR=1.058	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1191	18	0	1	0
chr8	109481526	109481526	C	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon56:c.C9421A:p.L3141I	.	435	1067	19	1	0	21	0.00974478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	0.0005	0.00119808	0.0020	0	0.0002	0	0.0003	0.0013	0.0125	0.0072	0.001022	158	154602	rs200961934	0.0006	0.0007	0.0005	0.0008	0.0063	0.0006	0.0006	0.0059	0.0057	3.027e-05	0.0003	0.0048	2.555e-05	5.71e-05	0.0023	0.0002	0.0012	0.0063	0.0005	0.0005	0.0004	0.0006	0.0073	0.0004	0.0004	0.0054	0.0047	4.819e-05	0	0.0002	0.0069	0	0	0	0.0002	0	0.0073	0.055	0.38407	T	0.015	0.61642	D	0.796	0.44790	P	0.673	0.53214	P	0.001034	0.40562	N	0.163065	0.96501	0.25956	N	2.305	0.65957	M	-2.45	0.88847	D	-1.09	0.30140	N	0.398	0.43899	-0.1867	0.78011	T	0.639	0.87376	D	10	0.010953903	0.00242	T	.	.	.	0.336	0.65816	.	.	0.37953744168	0.37561	0.357325073503585	0.35646	0.0425447266547	0.04588	0.351900696754	0.18201	T	0.09838	0.40215	T	-0.350655	0.04686	T	-0.273022	0.47512	T	0.0827592919721143	0.10337	T	0.844016	0.52334	T	0.092409335	0.21679	0.12415299	0.29929	0.092409335	0.21679	0.12415299	0.29928	-4.579	0.31907	T	.	.	0.111	0.31355	B	.;.	.;.	3.288631	0.45089	22.1	0.98521739355580595	0.42471	0.77795	0.38293	D	AEFI	0.298106	0.40751	N	0.170842743986272	0.49802	3.176685	0.199191076164343	0.49802	3.179231	0.0104622321700928	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.77	3.84	0.43422	0.576000	0.23446	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8208:0.0:0.1792	10.079	0.41552	604	0.67577	G8 domain|G8 domain|G8 domain;G8 domain|G8 domain|G8 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006061	0.000000	0.004087	0.008772	0.050000	0.017241	0.003086	0.007576	0.02632	942.33	43	chr8	109481526	.	C	A	942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.326;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.414;SOR=0.746	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr8	109498553	109498553	G	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon66:c.G10691C:p.R3564P	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.0400004947935	0.0003	0.000599042	0.0007	0	0.0002	0	0.0002	0.0006	0.0011	0.0022	0.0006339	98	154602	rs201721695	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0023	0.0022	0	0.0001	0	0	0.0001	0.0021	0.0006	0.0004	0.0026	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	7.221e-05	0	0.0004	0	0	9.441e-05	0	0.0007	0.0005	0.0014	0.029	0.45756	D	0.136	0.92824	T	0.996	0.68779	D	0.878	0.62312	P	0.000033	0.55875	D	0.071230	0.748365	0.29664	N	2.76	0.80626	M	-2.31	0.87750	D	-2.81	0.69835	D	0.81	0.80572	0.468	0.90096	D	0.743	0.91234	D	10	0.05666527	0.06388	T	0.04	0.59127	D	0.580	0.83081	.	.	0.416202232284	0.41236	0.8704274416174929	0.87008	0.254964693077	0.28073	0.544281542301	0.45051	T	0.127243	0.45414	T	0.0331901	0.56149	T	0.269041	0.86523	D	0.157511358581219	0.17685	T	0.806219	0.45479	T	0.58402777	0.71828	0.52940387	0.72810	0.58402777	0.71829	0.52940387	0.72810	-2.882	0.08965	T	.	.	0.853	0.85777	P	.;.	.;.	4.961891	0.82045	27.7	0.99747913881245021	0.84002	0.99424	0.95853	D	AEFI	0.936957	0.93404	D	0.823827223967613	0.87572	9.264703	0.82972467392791	0.91777	11.06291	0.999952376745709	0.48110	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	5.89	0.94758	7.014000	0.76124	9.744000	0.81446	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.762	0.77861	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1370.33	36	chr8	109498553	.	G	C	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.24;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr8	109498735	109498735	A	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon67:c.A10792C:p.S3598R	.	425	1061	33	3	0	39	0.0180472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	.	0.0042	0.00559105	0.0070	0.0005	0.0021	0.0001	0.0018	0.0059	0.0068	0.0247	0.0062742	970	154602	rs191412861	0.0058	0.0058	0.0052	0.0064	0.0235	0.0057	0.0057	0.0226	0.0223	0.0005	0.0028	0.0039	0.0001	0.0024	0.0144	0.0051	0.0064	0.0235	0.0037	0.0037	0.0034	0.0040	0.0236	0.0034	0.0033	0.0201	0.0188	0.0007	0	0.0038	0.0052	0.0002	0.0016	0.0068	0.0047	0.0043	0.0236	0.01	0.56456	D	0.007	0.92824	D	0.132	0.27209	B	0.04	0.23831	B	0.000010	0.62929	D	0.109105	0.981744	0.39811	D	2.455	0.71248	M	-2.18	0.86722	D	-2.92	0.65283	D	0.567	0.59053	0.044	0.83118	D	0.532	0.82626	D	10	0.010157198	0.00227	T	.	.	.	0.487	0.77528	0.615	0.74884	0.224531998449	0.22054	0.8064438829106227	0.80599	0.118355661369	0.13327	0.660828232765	0.61528	T	0.059709	0.31189	T	-0.13503	0.30684	T	0.0508483	0.73639	D	0.0302989552501162	0.02036	T	0.860114	0.55285	D	0.47670943	0.65700	0.51001537	0.71684	0.47670943	0.65701	0.51001537	0.71685	-4.57	0.31792	T	.	.	0.903	0.82959	P	.;.	.;.	3.597414	0.50793	23.0	0.99841498802935769	0.92229	0.98715	0.85931	D	AEFI	0.914970	0.87910	D	0.302415803449552	0.56273	3.791698	0.444078399766694	0.64335	4.686607	0.999978134083224	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.665000	0.82824	11.055000	0.85354	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	14.501	0.67307	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.010101	0.005435	0.002924	0.000000	0.008621	0.021472	0.037879	0.02632	1757.33	36	chr8	109498735	.	A	C	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.492;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.21;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr8	109618856	109618856	C	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001099746:exon2:c.G56C:p.G19A,SYBU:NM_001099749:exon2:c.G56C:p.G19A,SYBU:NM_001099755:exon2:c.G56C:p.G19A,SYBU:NM_001099756:exon2:c.G404C:p.G135A,SYBU:NM_001099753:exon3:c.G410C:p.G137A,SYBU:NM_001099754:exon3:c.G413C:p.G138A,SYBU:NM_001099743:exon4:c.G410C:p.G137A,SYBU:NM_001099744:exon4:c.G413C:p.G138A,SYBU:NM_001099745:exon4:c.G413C:p.G138A,SYBU:NM_001099747:exon4:c.G410C:p.G137A,SYBU:NM_001099748:exon4:c.G413C:p.G138A,SYBU:NM_001099751:exon4:c.G410C:p.G137A,SYBU:NM_001099752:exon4:c.G413C:p.G138A,SYBU:NM_001099750:exon5:c.G413C:p.G138A,SYBU:NM_017786:exon5:c.G410C:p.G137A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00279553	0.0019	0	0.0002	0	0	2.999e-05	0.0044	0.0133	0.0016235	251	154602	rs372309010	0.0008	0.0008	0.0005	0.0011	0.0123	0.0008	0.0007	0.0117	0.0115	5.974e-05	4.472e-05	0	0	0	0.0002	4.227e-05	0.0009	0.0123	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0004	0.0112	0.0102	2.406e-05	0	0	0	0	0	0.0136	2.94e-05	0	0.0139	0.491	0.91255	T	0.544	0.11335	T	0.587	0.38961	P	0.225	0.38015	B	0.011751	0.29415	N	0.412537	0.934888	0.27361	N	1.79	0.46772	L	.	.	.	-0.13	0.48523	N	0.281	0.33360	-1.0418	0.16770	T	0.083	0.32527	T	9	0.0060492456	0.00136	T	.	.	.	0.061	0.17616	0.124	0.03018	0.173771789658	0.16945	0.09334394125298731	0.09266	0.365713433289	0.38163	0.395602285862	0.24456	T	0.011007	0.12726	T	-0.386441	0.02835	T	-0.316196	0.42991	T	0.0253457295364231	0.01318	T	0.848015	0.66592	T	0.09417192	0.22135	0.06448538	0.12930	0.09417192	0.22134	0.06448538	0.12929	-3.437	0.17025	T	.	.	0.081	0.12276	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.569652	0.33295	19.30	0.82480213011022641	0.14214	0.87345	0.46856	D	AEFGBI	0.482425	0.52330	N	0.00410303429861943	0.42042	2.525722	0.177428571693123	0.48612	3.074859	0.98156320415579	0.30280	0.638212	0.43195	0	0.546412	0.12157	0	0.563428	0.18855	0	0.668105	0.65232	0	.	.	5.91	4.98	0.65679	1.759000	0.38049	5.896000	0.50824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1322:0.74:0.1279:0.0	12.223	0.53755	745	0.52414	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	996.33	34	chr8	109618856	.	C	G	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=726;ExcessHet=0;FS=5.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.687;SOR=1.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr8	112314049	112314049	G	C	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon45:c.C6953G:p.P2318R,CSMD3:NM_052900:exon48:c.C7241G:p.P2414R,CSMD3:NM_198123:exon49:c.C7553G:p.P2518R,CSMD3:NM_198124:exon50:c.C7433G:p.P2478R	.	.	.	.	.	.	.	.	.	.	.	3654632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0439731371488	7.7e-05	.	2.5e-05	0	0	0	0	4.541e-05	0	0	1.94e-05	3	154602	rs200501309	2.547e-05	2.6e-05	2.605e-05	2.488e-05	4.476e-05	1.879e-05	1.641e-05	2.011e-05	1.752e-05	0	4.476e-05	0	0	0	0	2.806e-05	4.995e-05	1.162e-05	1.317e-05	1.314e-05	2.573e-05	0	2.944e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	0.996	0.90584	D	0.962	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.285	0.65182	M	2.29	0.17113	T	-5.75	0.87760	D	0.899	0.92901	-1.0398	0.17374	T	0.125	0.42883	T	10	0.82756615	0.81930	D	0.043973	0.61257	D	0.522	0.79704	.	.	0.535909150963	0.53241	0.7585111809645304	0.75799	0.664198230331	0.59059	0.752871751785	0.74870	T	0.142744	0.47849	T	0.0956598	0.63820	D	0.0754791	0.75277	D	0.927853226661682	0.59096	D	0.927407	0.73262	D	0.7434421	0.80490	0.74009186	0.84637	0.7434421	0.80491	0.74009186	0.84638	-7.951	0.64323	D	.	.	0.155	0.34205	B	.;.;.;.	.;.;.;.	4.751119	0.76717	26.6	0.99808365560694523	0.89264	0.99675	0.98566	D	AEFI	0.939171	0.93941	D	0.757772029004793	0.83411	8.010311	0.737362773619563	0.85208	8.513023	0.999999931362847	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	8.045000	0.89210	11.784000	0.96188	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.937	0.92562	854	0.34840	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1150.33	37	chr8	112314049	.	G	C	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.231;DP=726;ExcessHet=0;FS=3.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.443;SOR=1.083	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F,CSMD3:NM_052900:exon43:c.A6584T:p.Y2195F,CSMD3:NM_198123:exon44:c.A6896T:p.Y2299F,CSMD3:NM_198124:exon45:c.A6776T:p.Y2259F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1612.33	33	chr8	112336775	.	T	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=750;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.14;SOR=0.842	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	18	0	1	0
chr8	115619644	115619644	T	C	exonic	TRPS1	.	nonsynonymous SNV	TRPS1:NM_001282902:exon2:c.A427G:p.M143V,TRPS1:NM_001330599:exon2:c.A415G:p.M139V,TRPS1:NM_001282903:exon3:c.A433G:p.M145V,TRPS1:NM_014112:exon3:c.A454G:p.M152V	Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0248616196364	.	.	2.486e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748075535	7.524e-06	7.524e-06	4.084e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.27904	T	0.669	0.08565	T	0.0	0.02946	B	0.0	0.01387	B	0.001818	0.37945	N	0.270733	0.963575	0.26018	N	-0.55	0.02420	N	-4.77	0.98126	D	-0.44	0.24026	N	0.098	0.07949	-0.0602	0.80989	T	0.735	0.90927	D	10	0.059805542	0.07247	T	0.024862	0.47845	T	0.262	0.57482	0.156	0.05964	0.309943084671	0.30607	0.047799412103521934	0.04722	0.0920514007103	0.10393	0.339460164309	0.16358	T	0.075846	0.35277	T	-0.150497	0.28232	T	-0.217287	0.52998	T	0.0640099741374896	0.07784	T	0.809319	0.45944	T	0.0912083	0.21366	0.11425695	0.27578	0.0912083	0.21366	0.11425695	0.27578	-2.001	0.03343	T	0.07514690579811513	0.03319	0.069	0.03964	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.687951	0.21508	15.23	0.95239154821500138	0.26480	0.67014	0.33280	D	AEFDBI	0.217970	0.34303	N	-0.245958451656377	0.31265	1.751381	0.0189620057705486	0.40595	2.425274	0.999998091404964	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	1.783000	0.38294	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1104:0.1833:0.7063	5.002	0.13612	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4337.81	33	chr8	115619644	.	T	C	4337.81	.	AC=2;AF=0.053;AN=38;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.9;SOR=0.945	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	1	0	0
chr8	117520889	117520889	C	T	exonic	MED30	.	nonsynonymous SNV	MED30:NM_001282986:exon1:c.C13T:p.P5S,MED30:NM_001363182:exon1:c.C13T:p.P5S,MED30:NM_080651:exon1:c.C13T:p.P5S	.	.	.	.	.	.	.	.	.	.	.	3453676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.272	0.0273327163711	.	.	0.0005	0	0.0055	0	0.0006	0.0002	0	0	0.0001682	26	154602	rs756450480	6.075e-05	6.225e-05	5.348e-05	6.812e-05	0.0009	5.007e-05	4.669e-05	0.0007	0.0006	0	0.0009	0	0	0	0	4.068e-05	8.378e-05	0	3.941e-05	3.939e-05	5.138e-05	2.689e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0.0002	0	5.879e-05	0	0	0.0	0.91255	D	0.277	0.21880	T	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.61	0.41143	L	.	.	.	-0.22	0.10480	N	0.541	0.62696	-0.3542	0.73432	T	0.369	0.72880	T	9	0.016767174	0.00355	T	0.027333	0.50151	D	0.272	0.58758	.	.	0.215239754934	0.21150	0.7288693597870866	0.72830	1.45782429626	0.86289	0.777789056301	0.78594	T	0.055689	0.30078	T	-0.0434054	0.45441	T	0.0881699	0.76123	D	0.190580949187279	0.19879	T	0.914509	0.69499	D	0.3310769	0.55559	0.6226822	0.78014	0.3310769	0.55559	0.6226822	0.78015	-3.426	0.16586	T	.	.	0.172	0.48093	B	.;.	.;.	4.810565	0.78248	26.9	0.99911760662319193	0.98095	0.98758	0.86475	D	ALL	0.771677	0.70624	D	0.644530623727374	0.76014	6.409194	0.628797500404854	0.77041	6.603508	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.52	5.52	0.82153	7.050000	0.76333	7.504000	0.59526	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.365000	0.25999	0.0:1.0:0.0:0.0	18.607	0.91223	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	807.33	34	chr8	117520889	.	C	T	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=674;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.118;SOR=0.399	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr8	118924739	118924739	C	T	exonic	TNFRSF11B	.	nonsynonymous SNV	TNFRSF11B:NM_002546:exon5:c.G841A:p.V281M	Paget disease of bone 5, juvenile-onset, Autosomal recessive	1	1472	46	3	0	52	0.0173565	.	.	.	722816	not_provided|Hyperphosphatasemia_with_bone_disease	MedGen:C3661900|MONDO:MONDO:0009394,MedGen:C0268414,OMIM:239000,Orphanet:2801	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.472	.	0.0014	0.00559105	0.0046	0.0003	0.0015	0	0	0.0029	0.0045	0.0204	0.0040038	619	154602	rs140782326	0.0024	0.0024	0.0018	0.0030	0.0193	0.0023	0.0023	0.0185	0.0182	0.0002	0.0009	0.0243	7.557e-05	7.492e-05	0.0102	0.0007	0.0044	0.0193	0.0019	0.0019	0.0018	0.0021	0.0207	0.0017	0.0017	0.0174	0.0162	0.0003	0	0.0007	0.0248	0	9.42e-05	0.0068	0.0011	0.0028	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.032329	0.25044	N	0.399577	0.999828	0.49512	D	2.74	0.80084	M	-2.1	0.86146	D	-0.81	0.22294	N	0.425	0.46462	0.555	0.91305	D	0.787	0.92779	D	9	0.008188218	0.00186	T	.	.	.	0.472	0.76554	.	.	0.934968889816	0.93430	0.5702795241821156	0.56955	0.953379303456	0.72727	0.697351574898	0.66761	T	0.553543	0.84926	D	-0.124175	0.32441	T	0.0644495	0.74541	D	0.0583540863247519	0.06907	T	0.929807	0.74042	D	0.261359	0.49195	0.36491203	0.61850	0.261359	0.49195	0.36491203	0.61850	-4.498	0.30863	T	0.6293411542440486	0.69855	0.260	0.49451	B	.	.	4.420963	0.68469	25.2	0.99899081334545292	0.97124	0.94924	0.62804	D	AEFGBCI	0.681942	0.64512	D	0.614798432573511	0.74108	6.077311	0.574524435262093	0.73118	5.918601	0.999999999999912	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	4.562000	0.60528	4.937000	0.46179	0.594000	0.32500	0.998000	0.41325	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	20.298	0.98571	891	0.26808	Death domain|Death domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.009511	0.002924	0.050000	0.017241	0.009146	0.015152	0.02632	1375.33	33	chr8	118924739	.	C	T	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=718;ExcessHet=0;FS=5.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.003;SOR=1.292	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr8	119855754	119855754	G	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon1:c.C42G:p.I14M	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0058	0.00638978	0.0050	0.0436	0.0061	0	0	0.0010	0.0088	0.0002	0.001727	267	154602	rs116553136	0.0009	0.0009	0.0010	0.0008	0.0171	0.0008	0.0008	0.0159	0.0155	0.0171	0.0039	0.0002	0	0	0.0046	0.0004	0.0020	0.0001	0.0064	0.0064	0.0062	0.0066	0.0203	0.0061	0.0059	0.0191	0.0187	0.0203	0	0.0049	0.0003	0	0	0.0170	0.0005	0.0066	0.0002	0.181	0.21884	T	0.03	0.54159	D	0.468	0.36503	P	0.219	0.37734	B	0.000156	0.49130	D	0.208186	0.949665	0.37662	D	1.935	0.51832	L	0.91	0.44856	T	0.04	0.06488	N	0.288	0.32591	-1.0669	0.10108	T	0.039	0.16849	T	10	0.008121848	0.00184	T	.	.	.	0.059	0.16972	.	.	0.451118754121	0.44735	0.3359671492523719	0.33509	0.447166410229	0.44580	0.717494666576	0.69681	T	0.046847	0.27548	T	-0.617537	0.00114	T	-0.64224	0.09506	T	0.0589767038000409	0.07005	T	0.837516	0.51030	T	0.068569176	0.14949	0.08862711	0.20676	0.068569176	0.14949	0.08862711	0.20676	-5.262	0.39566	T	.	.	0.105	0.19154	B	.	.	2.215300	0.28262	17.74	0.9737206903105452	0.33627	0.67114	0.33316	D	ALL	0.244510	0.36561	N	-0.0444415141594852	0.39850	2.35688	0.0293232411837258	0.41083	2.462308	0.999999999998597	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.82	2.89	0.32713	1.290000	0.32925	0.140000	0.15159	-0.153000	0.12021	1.000000	0.71638	0.697000	0.26210	0.688000	0.33778	0.1573:0.1357:0.5673:0.1396	3.282	0.06511	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010163	0.037634	0.013587	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	445.33	34	chr8	119855754	.	G	C	445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.28;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr8	120003018	120003018	A	G	exonic	DEPTOR	.	nonsynonymous SNV	DEPTOR:NM_001283012:exon4:c.A529G:p.R177G,DEPTOR:NM_022783:exon6:c.A832G:p.R278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0302459727636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41364	T	0.021	0.58089	D	0.791	0.44643	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	1.75	0.26588	T	-0.37	0.13226	N	0.56	0.61087	-1.0814	0.07079	T	0.093	0.35390	T	10	0.38776237	0.54667	T	0.030246	0.52598	D	0.181	0.45247	0.277	0.23004	0.605748623547	0.60258	0.7018588803328227	0.70126	0.438039832691	0.43841	0.581783652306	0.50336	T	0.078278	0.35854	T	0.0270994	0.55337	T	-0.19885	0.54755	T	0.908804476261139	0.56350	D	0.960404	0.85096	D	0.2294597	0.45683	0.19343589	0.42913	0.2294597	0.45683	0.19343589	0.42912	-5.445	0.42600	T	.	.	0.704	0.75140	P	.;.	.;.	3.642270	0.51645	23.1	0.99766428396046059	0.85500	0.73817	0.36106	D	AEFBCI	0.577459	0.57905	D	0.234669612631299	0.52886	3.46007	0.246816684119955	0.52470	3.421458	0.0103420403289667	0.12009	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.31	4.13	0.47661	2.057000	0.40991	4.504000	0.43621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.6827:0.3173:0.0:0.0	10.345	0.43086	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	34	chr8	120003018	.	A	G	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.928;DP=661;ExcessHet=0;FS=1.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=1.81;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	18	0	1	0
chr8	120209807	120209807	G	A	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon12:c.G1373A:p.S458N,COL14A1:NM_021110:exon12:c.G1373A:p.S458N	.	8	1499	14	1	0	16	0.00530856	.	.	.	711262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.042141190961	0.0022	0.000998403	0.0023	0.0005	0.0025	0.0002	0.0002	0.0032	0.0022	0.0015	0.0022315	345	154602	rs61753752	0.0028	0.0028	0.0027	0.0029	0.0054	0.0027	0.0027	0.0039	0.0034	0.0007	0.0024	0.0074	0	0.0002	0.0054	0.0030	0.0025	0.0025	0.0022	0.0022	0.0024	0.0019	0.0031	0.0020	0.0019	0.0028	0.0027	0.0005	0	0.0029	0.0075	0	0.0002	0.0034	0.0031	0.0066	0.0027	0.038	0.72154	D	0.049	0.65728	D	0.996	0.68779	D	0.857	0.61806	P	0.000013	0.62929	D	0.148564	0.999599	0.47742	D	2.995	0.85803	M	0.01	0.62459	T	-2.03	0.46673	N	0.618	0.63374	-0.0409	0.81398	T	0.448	0.78318	T	10	0.011208266	0.00246	T	0.042141	0.60309	D	0.292	0.61157	.	.	0.557167593849	0.55376	0.7725530090495252	0.77205	0.53478116883	0.50867	0.51078248024	0.40332	T	0.206657	0.56606	T	-0.365484	0.03829	T	-0.299874	0.44737	T	0.0437937135791625	0.04383	T	0.776522	0.75457	T	0.4749248	0.65591	0.46054107	0.68668	0.4749248	0.65592	0.46054107	0.68668	-9.685	0.72066	D	.	.	0.22	0.45750	B	.;.;.;.	.;.;.;.	4.189786	0.63134	24.5	0.99553431506624179	0.71273	0.95121	0.63515	D	AEFDGI	0.828387	0.74749	D	0.662746852234486	0.77196	6.628383	0.588800769886301	0.74135	6.085838	0.999083501847007	0.38397	0.675385	0.55134	0	0.573888	0.26702	0	0.693117	0.63056	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	5.425000	0.66208	9.821000	0.81804	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.0:1.0:0.0	19.180	0.93606	837	0.37933	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1713.33	33	chr8	120209807	.	G	A	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.671;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	18	0	1	0
chr8	120225106	120225106	A	G	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon15:c.A1756G:p.T586A,COL14A1:NM_021110:exon15:c.A1756G:p.T586A	.	7	1506	8	1	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0238921840785	0.0010	0.00139776	0.0010	0.0010	0.0012	0	0	0.0014	0.0011	0.0004	0.0010931	169	154602	rs61753753	0.0016	0.0016	0.0016	0.0016	0.0052	0.0015	0.0015	0.0038	0.0033	0.0002	0.0018	0.0003	0	0	0.0052	0.0018	0.0021	0.0006	0.0014	0.0014	0.0015	0.0013	0.0040	0.0013	0.0012	0.0032	0.0029	0.0003	0	0.0040	0.0006	0	0	0.0034	0.0019	0.0024	0.0006	0.022	0.65419	D	0.009	0.66756	D	0.798	0.44840	P	0.297	0.40924	B	0.000166	0.48594	D	0.183915	0.831299	0.81001	D	2.51	0.73131	M	0.3	0.58755	T	-1.96	0.45404	N	0.391	0.43223	-0.8142	0.54294	T	0.124	0.42778	T	10	0.013065338	0.00278	T	0.023892	0.46868	T	0.152	0.39956	.	.	0.481321013822	0.47762	0.4414098531696501	0.44057	0.235900415689	0.26126	0.431494772434	0.29413	T	0.204756	0.56361	T	-0.33876	0.05474	T	-0.266646	0.48159	T	0.0252870006498489	0.01310	T	0.772923	0.40417	T	0.17824952	0.38835	0.1417397	0.33743	0.17824952	0.38834	0.1417397	0.33742	-5.854	0.45042	T	.	.	0.109	0.23986	B	.;.;.	.;.;.	3.317915	0.45624	22.2	0.99783136117673155	0.86955	0.80146	0.39862	D	AEI	0.385125	0.46599	N	0.19762033458315	0.51084	3.292596	0.264677792517075	0.53489	3.517537	0.00192050852663608	0.09002	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.39	4.18	0.48473	3.178000	0.50579	6.484000	0.55744	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.447000	0.27828	0.6261:0.0:0.0:0.3739	7.770	0.28169	735	0.53711	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	715.33	34	chr8	120225106	.	A	G	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=673;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.22;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	120425355	120425355	C	T	exonic	MRPL13	.	nonsynonymous SNV	MRPL13:NM_014078:exon4:c.G257A:p.G86E	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	.	0.0019	0.00139776	0.0036	0.0009	0.0023	0	0.0132	0.0047	0.0044	6.065e-05	0.0034864	539	154602	rs61753788	0.0035	0.0036	0.0037	0.0034	0.0037	0.0035	0.0034	0.0036	0.0035	0.0006	0.0021	0.0005	0	0.0145	0.0009	0.0037	0.0033	0.0002	0.0033	0.0033	0.0030	0.0037	0.0040	0.0031	0.0030	0.0036	0.0035	0.0006	0	0.0016	0.0003	0	0.0160	0	0.0040	0.0033	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.974	0.73157	D	0.000262	0.46590	D	0.180124	0.999998	0.58761	D	4.57	0.99180	H	.	.	.	-7.61	0.95574	D	0.82	0.81559	0.581	0.91652	D	0.615	0.86397	D	9	0.03554383	0.01808	T	.	.	.	0.920	0.97965	.	.	0.855042360338	0.85364	0.8209121999329461	0.82048	0.651785227857	0.58399	0.567448496819	0.48317	T	0.755253	0.93326	D	0.0472742	0.57992	T	0.297464	0.88080	D	0.489980667829514	0.32263	T	0.922708	0.71908	D	0.91816944	0.93070	0.8603076	0.92200	0.91816944	0.93071	0.8603076	0.92201	-8.885	0.66953	D	.	.	0.941	0.85964	P	.;.	.;.	5.224415	0.87683	29.3	0.99828825062757132	0.91112	0.97264	0.73666	D	AEFBI	0.775966	0.70922	D	0.966762629170911	0.94626	12.90769	0.863005170345295	0.93752	12.25572	0.999999999215643	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	6.703000	0.74456	7.680000	0.65243	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.001	0.89119	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.015306	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	763.33	33	chr8	120425355	.	C	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=676;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.536;SOR=0.493	GT:AD:DP:GQ:PL	0/1:22,34:56:99:777,0,492	18	0	1	0
chr8	120488314	120488314	A	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon12:c.A1321G:p.T441A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0072	0.0081869	0.0023	0.0208	0.0012	0	0	0.0005	0.0023	0.0001	0.0021216	328	154602	rs73705079	0.0009	0.0010	0.0009	0.0009	0.0221	0.0009	0.0009	0.0207	0.0201	0.0221	0.0020	0.0004	0	0	0.0133	0.0003	0.0021	0.0002	0.0062	0.0062	0.0063	0.0061	0.0203	0.0059	0.0057	0.0192	0.0187	0.0203	0	0.0034	0	0	0	0.0136	0.0004	0.0085	0.0002	0.514	0.07401	T	0.498	0.11263	T	0.002	0.09854	B	0.002	0.06944	B	0.415794	0.12935	N	0.761051	1	0.08975	N	1.79	0.46772	L	.	.	.	-0.25	0.11008	N	0.133	0.12913	-1.0281	0.21070	T	0.016	0.06425	T	9	0.0036792457	0.00067	T	.	.	.	0.041	0.10877	.	.	0.151104730317	0.14643	0.1444410203532309	0.14367	0.147605214944	0.16655	0.266594558954	0.05701	T	0.032316	0.22431	T	-0.664382	0.00059	T	-0.71152	0.05218	T	0.000487948713852683	0.00004	T	0.510449	0.16283	T	0.03665509	0.04550	0.026101867	0.00682	0.03665509	0.04550	0.026101867	0.00682	-3.709	0.19451	T	.	.	0.074	0.05103	B	.	.	0.707193	0.10760	7.448	0.50440270083957073	0.04385	0.01682	0.05369	N	AEFGBI	0.021312	0.00936	N	-1.03108525949793	0.07963	0.3717751	-1.00980297621209	0.09568	0.4768195	0.0189973076549855	0.13118	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.97	0.358	0.15319	0.395000	0.20576	0.273000	0.16680	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.5239:0.1237:0.3524:0.0	7.409	0.26179	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.010101	0.005435	0.011765	0.000000	0.017241	0.000000	0.000000	0.02632	648.33	33	chr8	120488314	.	A	G	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=691;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.291;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr8	120490552	120490552	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.G1429A:p.A477T	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00764654572281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.902e-07	1.368e-06	1.373e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.048	0.48594	D	0.513	0.37366	P	0.147	0.34014	B	0.000407	0.44736	D	0.228496	0.774785	0.34194	D	2.71	0.79292	M	.	.	.	-2.32	0.51478	N	0.322	0.36254	-0.4582	0.70128	T	0.205	0.56362	T	9	0.4197968	0.56786	T	0.007647	0.20299	T	0.140	0.37593	0.398	0.42590	0.536051623013	0.53255	0.40687079048739905	0.40603	0.151432664417	0.17094	0.335589379072	0.15777	T	0.540921	0.84280	D	-3.37926e-05	0.51649	T	-0.237825	0.51011	T	0.960853636264801	0.65919	D	0.632737	0.24712	T	0.11797933	0.27806	0.16329956	0.37888	0.11797933	0.27805	0.16329956	0.37887	-3.41	0.15191	T	.	.	0.123	0.25817	B	.	.	4.250190	0.64514	24.7	0.99778167311720611	0.86519	0.95210	0.63845	D	AEFDBI	0.434430	0.49548	N	0.074078982244545	0.45254	2.785179	0.153435372050576	0.47324	2.964373	0.994836958884407	0.33823	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	5.0	0.66209	5.051000	0.64074	7.555000	0.60355	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0684:0.0:0.9316:0.0	14.980	0.70957	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1024.33	33	chr8	120490552	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.567;DP=710;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.55;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	18	0	1	0
chr8	120517852	120517852	C	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon19:c.C2248T:p.L750F	.	434	1060	27	1	0	29	0.0134946	0.0213	0.172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0082	0.00539137	0.0081	0.0022	0.0048	0.0001	0.0020	0.0094	0.0067	0.0150	0.0079624	1231	154602	rs61753798	0.0097	0.0099	0.0096	0.0099	0.0132	0.0096	0.0096	0.0126	0.0123	0.0017	0.0057	0.0032	5.046e-05	0.0025	0.0092	0.0108	0.0081	0.0132	0.0068	0.0068	0.0068	0.0068	0.0114	0.0065	0.0063	0.0103	0.0101	0.0019	0	0.0064	0.0032	0.0002	0.0024	0.0136	0.0110	0.0081	0.0114	0.107	0.29554	T	0.13	0.34716	T	0.36	0.33860	B	0.139	0.33484	B	0.000226	0.47286	N	0.144353	0.999576	0.47641	D	2.545	0.74286	M	.	.	.	-1.96	0.45404	N	0.142	0.14196	-0.9822	0.34491	T	0.106	0.38611	T	9	0.0057896674	0.00129	T	.	.	.	0.036	0.09122	.	.	0.640041731404	0.63707	0.2528034314553507	0.25194	0.201326276818	0.22533	0.379101604223	0.22130	T	0.219499	0.58253	T	-0.528778	0.00390	T	-0.518704	0.20425	T	0.015199612315482	0.00333	T	0.785621	0.42343	T	0.08627172	0.20047	0.104997456	0.25231	0.08627172	0.20047	0.104997456	0.25230	-4.534	0.31330	T	.	.	0.094	0.14293	B	.	.	2.493602	0.32177	18.96	0.99774697825411618	0.86260	0.80009	0.39764	D	AEFBI	0.156271	0.28160	N	-0.148636852762372	0.35292	2.025314	-0.0770798766117348	0.36340	2.113589	0.00706565440859107	0.11376	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	2.7	0.31007	0.684000	0.25043	0.812000	0.21762	0.599000	0.40250	0.972000	0.34453	0.879000	0.27682	0.837000	0.39485	0.1233:0.6823:0.0:0.1944	7.558	0.27000	686	0.59327	MDN2-binding protein, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.005848	0.000000	0.000000	0.006098	0.015152	0.02632	827.33	78	chr8	120517852	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.523;DP=1177;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.323;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1133:.	18	0	1	0
chr8	120811608	120811608	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C236T:p.A79V	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0011	0.00199681	0.0039	0.0010	0.0030	0	0.0014	0.0026	0.0082	0.0100	0.0016235	251	154602	rs201940243	0.0013	0.0013	0.0010	0.0016	0.0102	0.0012	0.0012	0.0081	0.0079	0.0001	0.0008	0.0050	0	0.0003	0.0102	0.0007	0.0016	0.0086	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0003	0.0060	0	0.0007	0.0103	0.0013	0.0005	0.0081	0.313	0.13879	T	0.35	0.17478	T	0.012	0.16265	B	0.007	0.12992	B	0.371210	0.04363	N	1.429480	1	0.08975	N	1.04	0.26193	L	1.04	0.40218	T	-0.82	0.22508	N	0.072	0.04547	-1.0331	0.19459	T	0.058	0.24465	T	10	0.0034614503	0.00061	T	.	.	.	0.030	0.07022	.	.	0.318133320967	0.31420	0.45327639487978616	0.45245	.	.	0.705061197281	0.67876	T	0.225548	0.59031	T	-0.551429	0.00286	T	-0.559034	0.16467	T	0.00172025871911033	0.00018	T	0.542346	0.18433	T	0.05869175	0.11837	0.061272908	0.11804	0.05869175	0.11837	0.061272908	0.11804	-5.537	0.42213	T	.	.	0.082	0.08657	B	.;.	.;.	1.968172	0.25002	16.60	0.97215705365773275	0.32878	0.16176	0.19266	N	AEFDBHCIJ	0.082456	0.16697	N	-0.766014321388156	0.14202	0.7055587	-0.683740317296577	0.17367	0.9231392	0.99999886410472	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.94	3.01	0.33872	0.845000	0.27321	1.235000	0.25068	0.583000	0.30283	0.006000	0.17386	0.010000	0.20010	0.794000	0.37478	0.0776:0.138:0.6416:0.1427	5.809	0.17720	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008595	0.000000	0.004110	0.008772	0.000000	0.017241	0.015337	0.011364	0.05263	2322.83	120	chr8	120811608	.	G	A	2322.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.238;DP=848;ExcessHet=0.119;FS=0.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.444;SOR=0.616	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	17	0	2	0
chr8	120811614	120811614	G	C	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C230G:p.P77R	.	417	1104	1	0	0	1	0.000452694	.	.	.	2394427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0539457431346	.	.	3.335e-05	0	0.0002	0	0	0	0	8.786e-05	1.29e-05	2	154602	rs766992193	1.464e-05	1.437e-05	9.7e-06	1.963e-05	0.0004	9.41e-06	7.98e-06	9.206e-05	7.3e-05	0	0.0001	0	0	0	0.0004	0	1.692e-05	0.0002	1.973e-05	1.97e-05	1.285e-05	2.692e-05	0.0004	5.24e-06	2.46e-06	7.282e-05	3.026e-05	0	0	6.547e-05	0	0	0	0	0	0	0.0004	0.051	0.39334	T	0.106	0.37872	T	0.0	0.02946	B	0.0	0.01387	B	0.147174	0.18089	N	0.532361	0.819109	0.28905	N	0.305	0.10234	N	1.12	0.38718	T	-2.35	0.51968	N	0.257	0.29081	-1.0426	0.16532	T	0.053	0.22384	T	10	0.079503834	0.12798	T	0.053946	0.65667	D	0.037	0.09474	0.298	0.26362	0.082315109003	0.07666	0.40761550048910583	0.40677	.	.	0.7572286129	0.75517	T	0.299885	0.67240	T	-0.315732	0.07254	T	-0.475968	0.24876	T	0.0491260223891047	0.05345	T	0.40366	0.10339	T	0.09633459	0.22689	0.16668357	0.38495	0.09633459	0.22689	0.16668357	0.38494	-4.48	0.30626	T	.	.	0.097	0.16407	B	.;.	.;.	2.789152	0.36656	20.3	0.97912075856856295	0.36822	0.26431	0.22991	N	AEFDBHCIJ	0.154003	0.27896	N	-0.325273249116139	0.28192	1.552911	-0.193559627379355	0.31772	1.801241	0.999999959184988	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.79	3.87	0.43823	2.325000	0.43499	1.673000	0.27967	0.583000	0.30283	0.031000	0.20493	0.994000	0.32194	0.761000	0.36181	0.0:0.0:0.8311:0.1689	12.307	0.54232	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1666.33	38	chr8	120811614	.	G	C	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.168;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.325;SOR=0.742	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr8	120811635	120811635	C	T	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.G209A:p.R70K	.	411	1108	3	0	0	3	0.00135196	.	.	.	2369109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.068224968246	.	0.000798722	0.0005	0.0002	0.0003	0	0.0007	0.0006	0	0.0010	0.0003687	57	154602	rs145732083	0.0006	0.0006	0.0005	0.0007	0.0011	0.0006	0.0006	0.0009	0.0009	0.0001	9.62e-05	0	0	0.0002	0.0007	0.0006	0.0006	0.0011	0.0004	0.0004	0.0005	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	7.218e-05	0	6.535e-05	0	0	0.0003	0	0.0008	0	0.0008	0.735	0.03753	T	0.928	0.02795	T	0.001	0.07471	B	0.001	0.04355	B	0.001196	0.39899	N	0.160194	0.834722	0.28712	N	0.895	0.22405	L	1.18	0.37746	T	-0.42	0.14193	N	0.277	0.31365	-1.0884	0.05804	T	0.046	0.19720	T	10	0.017380834	0.00371	T	0.068225	0.70390	D	0.053	0.14996	.	.	0.252829632966	0.24901	0.5088952206881259	0.50811	.	.	0.880455970764	0.94022	D	0.209514	0.56974	T	-0.477888	0.00761	T	-0.50967	0.21350	T	0.0124958123732138	0.00206	T	0.50295	0.15803	T	0.21631241	0.44086	0.13308613	0.31921	0.21631241	0.44086	0.13308613	0.31920	-3.528	0.16826	T	.	.	0.117	0.26325	B	.;.	.;.	2.288211	0.29267	18.07	0.96957819408484647	0.31767	0.69522	0.34221	D	AEFDBHCIJ	0.180434	0.30774	N	-0.430022482394311	0.24422	1.318578	-0.201508365737499	0.31482	1.782108	0.999999978329154	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	5.06	5.06	0.67838	1.302000	0.33063	3.609000	0.39247	0.518000	0.23583	0.827000	0.30089	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	16.201	0.81895	430	0.80826	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1629.33	38	chr8	120811635	.	C	T	1629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.398;SOR=0.758	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr8	122952160	122952160	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G650A:p.R217H,ZHX2:NM_001362797:exon4:c.G650A:p.R217H	.	.	.	.	.	.	.	.	.	.	.	2204111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00604945582058	.	.	1.65e-05	0	0	0.0001	0	0	0	6.057e-05	1.29e-05	2	154602	rs756368144	2.805e-05	2.805e-05	3.403e-05	2.2e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	3.758e-05	0.0001	0	3.827e-05	0	0	0.0003	2.608e-05	3.312e-05	2.319e-05	5.295e-05	5.262e-05	5.169e-05	5.428e-05	0.0001	2.574e-05	1.842e-05	4.783e-05	3.083e-05	0.0001	0	6.599e-05	0	0	0	0	2.948e-05	0	0	0.033	0.44358	D	0.131	0.34596	T	0.033	0.20350	B	0.008	0.13708	B	0.012894	0.29020	N	0.385180	0.921802	0.36700	D	1.355	0.33814	L	2.18	0.18875	T	-0.77	0.21429	N	0.146	0.14763	-1.0886	0.05770	T	0.047	0.20156	T	10	0.11381698	0.21394	T	0.006049	0.15816	T	0.033	0.08068	0.349	0.34598	0.386721274199	0.38283	0.35432362145816915	0.35346	0.32880603213	0.34991	0.417994558811	0.27562	T	0.065377	0.32673	T	-0.260422	0.12851	T	-0.430326	0.29898	T	0.144635915756226	0.16668	T	0.682032	0.29067	T	0.054181956	0.10359	0.045769773	0.06232	0.054181956	0.10359	0.045769773	0.06231	-3.486	0.16237	T	.	.	0.067	0.02428	B	.	.	3.298510	0.45273	22.1	0.99893070132894013	0.96666	0.90153	0.51108	D	AEFDGBI	0.357492	0.44850	N	-0.158344275433276	0.34882	1.996618	0.0106763926863388	0.40209	2.396061	0.999827725958263	0.43622	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.63	4.75	0.59954	1.387000	0.34037	4.543000	0.43772	0.590000	0.31872	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0737:0.0:0.9263:0.0	13.839	0.62925	953	0.10115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2390.33	34	chr8	122952160	.	G	A	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=988;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.292;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr8	123150123	123150123	C	T	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001363154:exon18:c.C2459T:p.T820I,TBC1D31:NM_001145088:exon19:c.C2774T:p.T925I,TBC1D31:NM_001363152:exon19:c.C2654T:p.T885I,TBC1D31:NM_001363153:exon19:c.C2630T:p.T877I,TBC1D31:NM_001363155:exon19:c.C2552T:p.T851I,TBC1D31:NM_001363156:exon19:c.C1562T:p.T521I,TBC1D31:NM_001330606:exon20:c.C2747T:p.T916I,TBC1D31:NM_001363148:exon20:c.C2867T:p.T956I,TBC1D31:NM_001363150:exon20:c.C2969T:p.T990I,TBC1D31:NM_001363149:exon21:c.C3032T:p.T1011I,TBC1D31:NM_145647:exon21:c.C3062T:p.T1021I	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0008	0.00698882	0.0083	0.0010	0.0816	0	0	0.0006	0.0044	0.0002	0.0073867	1142	154602	rs145832961	0.0024	0.0024	0.0028	0.0021	0.0657	0.0024	0.0023	0.0637	0.0629	0.0007	0.0657	0	5.044e-05	7.49e-05	0.0007	0.0004	0.0016	0.0005	0.0035	0.0035	0.0032	0.0038	0.0281	0.0032	0.0031	0.0259	0.0251	0.0010	0	0.0281	0	0.0002	0	0	0.0006	0.0052	0.0004	0.025	0.49117	D	0.04	0.51421	D	0.112	0.26290	B	0.024	0.20255	B	0.310930	0.14435	N	0.620384	1	0.08975	N	1.79	0.46772	L	-0.4	0.77964	T	-1.24	0.37178	N	0.092	0.28498	-0.9304	0.44080	T	0.077	0.30828	T	10	0.0017227829	0.00022	T	.	.	.	0.125	0.34456	.	.	.	.	0.27283835865463935	0.27196	0.0841552114463	0.09491	0.367348968983	0.20451	T	0.005484	0.15579	T	-0.493858	0.00619	T	-0.427097	0.30264	T	0.00786303802567915	0.00092	T	0.665433	0.49530	T	0.078585066	0.17905	0.070688546	0.15048	0.078585066	0.17905	0.070688546	0.15048	-3.744	0.21988	T	.	.	0.108	0.28464	B	.;.;.;.;.	.;.;.;.;.	1.964415	0.24954	16.59	0.96975454180944443	0.31835	0.10907	0.16275	N	AEFGBI	0.032388	0.03648	N	-0.817263433466424	0.12870	0.6301343	-0.842525997580128	0.13467	0.6987704	0.999964006497209	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.41	2.52	0.29514	1.063000	0.30177	2.002000	0.30126	0.505000	0.23025	0.001000	0.13787	0.006000	0.19429	0.632000	0.32210	0.0:0.73:0.1729:0.0971	7.237	0.25252	920	0.19381	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	950.33	41	chr8	123150123	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.171;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1122	18	0	1	0
chr8	123182972	123182972	C	T	exonic	FAM83A	.	nonsynonymous SNV	FAM83A:NM_001288587:exon1:c.C116T:p.T39M,FAM83A:NM_001321630:exon1:c.C116T:p.T39M,FAM83A:NM_032899:exon2:c.C116T:p.T39M,FAM83A:NM_207006:exon2:c.C116T:p.T39M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00139776	0.0013	0.0001	0.0002	0.0001	0	3.276e-05	0	0.0105	0.0010479	162	154602	rs528392267	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0079	0.0077	5.984e-05	4.5e-05	0	0	1.885e-05	0.0005	4.504e-06	0.0008	0.0085	0.0002	0.0002	0.0001	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0075	0.071	0.35165	T	0.152	0.37173	T	0.966	0.56202	D	0.4	0.44481	B	0.000383	0.44960	D	0.227938	0.844	0.35105	D	2.27	0.64531	M	2.76	0.11515	T	-1.23	0.37566	N	0.359	0.42541	-1.0341	0.19141	T	0.030	0.12935	T	10	0.016077101	0.00338	T	.	.	.	0.070	0.20419	.	.	0.295623431141	0.29171	0.37376464525415865	0.37290	1.01639283316	0.74965	0.56496745348	0.47968	T	0.012868	0.11231	T	-0.503515	0.00546	T	-0.490491	0.23340	T	0.0382086895216926	0.03370	T	0.926107	0.77317	D	0.05034993	0.09082	0.10971872	0.26447	0.05034993	0.09081	0.10971872	0.26446	-7.33	0.56408	T	.	.	0.112	0.28863	B	.;.;.;.	.;.;.;.	3.945221	0.57762	23.9	0.99277487021478539	0.57765	0.80599	0.40194	D	AEFDGBHCI	0.212643	0.33830	N	0.236741884652811	0.52988	3.469739	0.283977490641213	0.54604	3.624857	0.999999973845922	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.06	0.46572	2.790000	0.47512	5.674000	0.49268	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.690000	0.33838	0.0:0.9158:0.0:0.0842	14.522	0.67445	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1514.33	33	chr8	123182972	.	C	T	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=766;ExcessHet=0;FS=5.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.033;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	18	0	1	0
chr8	123681269	123681269	G	A	exonic	ANXA13	.	nonsynonymous SNV	ANXA13:NM_004306:exon11:c.C922T:p.R308W,ANXA13:NM_001003954:exon12:c.C1045T:p.R349W	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0223539626799	0.0008	0.00159744	0.0010	9.61e-05	0.0003	0	0.0005	0.0007	0	0.0038	0.0008797	136	154602	rs143112749	0.0009	0.0009	0.0008	0.0009	0.0035	0.0008	0.0008	0.0032	0.0031	8.965e-05	0.0004	3.828e-05	0	0.0002	0.0003	0.0008	0.0008	0.0035	0.0005	0.0005	0.0005	0.0005	0.0054	0.0004	0.0004	0.0038	0.0032	0.0002	0	0.0005	0	0	9.413e-05	0	0.0005	0.0005	0.0054	0.0	0.91255	D	0.001	0.83351	D	0.965	0.57405	D	0.505	0.52030	P	0.066012	0.21840	N	0.542263	0.927902	0.37494	D	3.645	0.94141	H	3.79	0.03809	T	-5.8	0.89211	D	0.257	0.29081	-1.0814	0.07079	T	0.038	0.16246	T	10	0.010331154	0.00230	T	0.022354	0.45241	T	0.139	0.37390	.	.	0.555317463333	0.55189	0.6313734103303085	0.63071	0.471316010277	0.46400	0.203710734844	0.00572	T	0.190673	0.54529	T	-0.426016	0.01567	T	-0.385	0.35136	T	0.209661587495859	0.20936	T	0.948305	0.82682	D	0.75227386	0.81000	0.7303254	0.84066	0.75227386	0.81002	0.7303254	0.84067	-8.91	0.67420	D	.	.	0.199	0.65176	B	.;.	.;.	4.831090	0.78788	27.0	0.99899611652244202	0.97199	0.59012	0.30798	D	AEFDGBCIJ	0.468113	0.51505	N	0.423690660058944	0.62727	4.493526	0.34876096502987	0.58431	4.013738	0.999998855584805	0.74766	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.71	3.7	0.41607	2.498000	0.45023	4.784000	0.44855	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.518:0.482	10.747	0.45388	958	0.09170	.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1375.33	44	chr8	123681269	.	G	A	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=1081;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.284;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr8	123681301	123681301	T	G	exonic	ANXA13	.	nonsynonymous SNV	ANXA13:NM_004306:exon11:c.A890C:p.D297A,ANXA13:NM_001003954:exon12:c.A1013C:p.D338A	.	432	1089	1	0	0	1	0.000458926	.	.	.	3278798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0160625226098	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771029692	3.078e-05	3.215e-05	1.77e-05	4.4e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.325	0.18846	T	0.962	0.55554	D	0.626	0.51600	P	0.000009	0.62929	D	0.174408	0.950079	0.38297	D	1.29	0.32370	L	3.9	0.03516	T	-2.47	0.53898	N	0.216	0.24260	-0.6992	0.60476	T	0.013	0.04843	T	10	0.20481881	0.36687	T	0.016063	0.37127	T	0.122	0.33800	0.436	0.48828	0.405979908929	0.40213	0.5930139872672464	0.59231	0.20667042463	0.23098	0.447197198868	0.31562	T	0.016825	0.13832	T	-0.377003	0.03254	T	-0.468796	0.25646	T	0.454331398010254	0.30956	T	0.722728	0.34191	T	0.37297475	0.58804	0.2580647	0.51534	0.37297475	0.58804	0.2580647	0.51533	-4.136	0.32322	T	.	.	0.122	0.35663	B	.;.	.;.	3.995748	0.58836	24.0	0.9923103078035489	0.56214	0.91483	0.53626	D	AEFDGBIJ	0.719172	0.67014	D	0.320413167815542	0.57196	3.886204	0.426306891600233	0.63210	4.550223	0.99999999938402	0.74766	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.71	5.71	0.89031	5.170000	0.64828	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.493	0.60866	958	0.09170	.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1614.33	44	chr8	123681301	.	T	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.304;DP=1070;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.308;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.02632	729.33	35	chr8	124010665	.	C	T	729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.839;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr8	124039935	124039935	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon20:c.G2518A:p.A840T	.	425	1059	35	3	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	.	0.0052	0.00579073	0.0060	0.0005	0.0029	0	0.0023	0.0070	0.0033	0.0119	0.0058667	907	154602	rs142217401	0.0060	0.0060	0.0057	0.0064	0.0184	0.0059	0.0059	0.0155	0.0145	0.0016	0.0026	0.0310	0	0.0025	0.0184	0.0055	0.0076	0.0117	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0094	0.0010	0	0.0068	0.0346	0	0.0042	0.0102	0.0061	0.0038	0.0128	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.385	0.91502	M	-0.47	0.70133	T	-2.98	0.62008	D	0.743	0.74280	0.236	0.86505	D	0.489	0.80570	T	10	0.009503335	0.00214	T	.	.	.	0.573	0.82686	.	.	0.500678981321	0.49703	0.49789396815745735	0.49710	0.508400521286	0.48994	0.630729317665	0.57248	T	0.371066	0.73549	T	-0.0170175	0.49277	T	0.213167	0.83826	D	0.0513036213528473	0.05727	T	0.968103	0.88413	D	0.38378093	0.59588	0.51439893	0.71942	0.38378093	0.59589	0.51439893	0.71942	-11.287	0.81209	D	.	.	0.749	0.74994	P	.	.	5.545356	0.92002	32	0.99946500699424612	0.99901	0.93654	0.58812	D	ALL	0.893354	0.83121	D	1.02785673737034	0.96537	14.81895	0.962320638862546	0.97756	16.70569	1.0	0.98316	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.64	5.64	0.86480	9.968000	0.99102	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.473	0.90727	686	0.59327	C2 domain|C2 domain|C2 domain|Ferlin, fourth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.020380	0.017544	0.000000	0.008621	0.021341	0.015152	0.02632	3276.33	243	chr8	124039935	.	G	A	3276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=902;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-2.502;SOR=0.832	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1464	18	0	1	0
chr8	124060704	124060704	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon24:c.G3142A:p.E1048K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0803387251677	.	0.000199681	1.65e-05	0	0	0	0.0002	0	0	6.089e-05	1.94e-05	3	154602	rs200333104	1.574e-05	1.573e-05	1.225e-05	1.926e-05	5.798e-05	1.048e-05	8.76e-06	2.194e-05	1.43e-05	2.988e-05	2.237e-05	0	0	1.872e-05	0	1.08e-05	4.969e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.027	0.55341	D	0.991	0.64070	D	0.767	0.56720	P	0.000028	0.55875	U	0.117978	1	0.81001	D	1.46	0.36832	L	-1.54	0.81640	D	-3.21	0.64826	D	0.607	0.62442	-0.1138	0.79779	T	0.534	0.82762	D	10	0.5771131	0.65642	D	0.080339	0.73438	D	0.603	0.84345	.	.	0.55375338871	0.55033	0.5937736388413459	0.59307	0.506984617199	0.48887	0.629762232304	0.57111	T	0.177039	0.52719	T	0.127763	0.67141	D	0.127274	0.78715	D	0.96356588602066	0.66696	D	0.934107	0.75346	D	0.3324222	0.55668	0.34638762	0.60308	0.3324222	0.55669	0.34638762	0.60307	-11.821	0.83968	D	.	.	0.191	0.41031	B	.	.	5.513456	0.91708	32	0.99908842325921032	0.97875	0.99490	0.96665	D	AEFDGBI	0.934390	0.92769	D	0.616470605597726	0.74216	6.095104	0.63290438732045	0.77341	6.661077	0.999999999999854	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.06	6.06	0.98340	9.968000	0.99102	8.374000	0.77054	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.0:0.0:1.0:0.0	20.216	0.98298	746	0.52331	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	33	chr8	124060704	.	G	A	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.832;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.568;SOR=0.638	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr8	124119696	124119696	T	C	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon41:c.T5480C:p.I1827T	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0273298299873	8e-05	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0015	0.0002458	38	154602	rs375758950	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0	6.71e-05	0	0	0	0	9.539e-05	0.0002	0.0017	8.536e-05	8.53e-05	7.712e-05	9.397e-05	0.0015	4.954e-05	3.96e-05	0.0007	0.0005	0	0	6.533e-05	0	0	0	0	7.351e-05	0	0.0015	0.084	0.32929	T	0.319	0.19188	T	0.988	0.62325	D	0.803	0.58300	P	0.193253	0.16790	U	0.579340	0.999509	0.47320	D	1.355	0.33814	L	-1.56	0.81815	D	-1.12	0.28906	N	0.334	0.37509	-0.0064	0.82123	T	0.599	0.85735	D	10	0.04818198	0.04234	T	0.02733	0.50151	D	0.371	0.69016	.	.	0.415564226483	0.41173	0.5527981874454271	0.55205	0.404161105383	0.41326	0.704163014889	0.67746	T	0.321007	0.69215	T	-0.295917	0.09051	T	-0.222468	0.52499	T	0.117517669748552	0.14185	T	0.883312	0.60567	D	0.12231985	0.28747	0.12155255	0.29328	0.12231985	0.28747	0.12155255	0.29327	-7.03	0.54252	T	.	.	0.076	0.05756	B	.	.	3.920715	0.57237	23.8	0.99759380031903189	0.84931	0.91133	0.52925	D	AEFGBI	0.294682	0.40498	N	0.461158774424602	0.64838	4.74769	0.492790504080353	0.67511	5.093843	0.0694521087216119	0.15491	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	1.703000	0.37465	5.023000	0.46762	0.665000	0.62972	0.990000	0.36992	1.000000	0.68203	0.939000	0.47918	0.0:0.0:0.0:1.0	16.822	0.85699	692	0.58729	Ferlin, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2113.33	33	chr8	124119696	.	T	C	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.141;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.23;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	18	0	1	0
chr8	124553449	124553449	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001363300:exon13:c.T1616C:p.I539T,MTSS1:NM_001363301:exon13:c.T1613C:p.I538T,MTSS1:NM_001363302:exon13:c.T1565C:p.I522T,MTSS1:NM_001282974:exon14:c.T1736C:p.I579T,MTSS1:NM_001363294:exon14:c.T1808C:p.I603T,MTSS1:NM_001363295:exon14:c.T1760C:p.I587T,MTSS1:NM_001363298:exon14:c.T1733C:p.I578T,MTSS1:NM_001363299:exon14:c.T1628C:p.I543T,MTSS1:NM_014751:exon14:c.T1811C:p.I604T,MTSS1:NM_001282971:exon15:c.T1823C:p.I608T,MTSS1:NM_001363296:exon15:c.T1748C:p.I583T,MTSS1:NM_001363297:exon15:c.T1745C:p.I582T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0109698445935	0.0002	0.00159744	0.0006	0.0002	8.652e-05	0	0.0003	0.0005	0	0.0023	0.0005757	89	154602	rs149463159	0.0005	0.0005	0.0005	0.0006	0.0020	0.0005	0.0005	0.0017	0.0016	0.0001	0.0002	0	0.0001	0.0002	0.0014	0.0005	0.0005	0.0020	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	0.0002	0	6.542e-05	0	0.0002	0.0006	0.0034	0.0006	0	0.0046	0.163	0.38185	T	0.381	0.29442	T	0.089	0.40146	B	0.075	0.33328	B	0.012306	0.29218	N	0.376195	0.929815	0.81001	D	1.355	0.33814	L	1.44	0.32722	T	-0.5	0.22078	N	0.154	0.22870	-1.0750	0.08348	T	0.044	0.18865	T	10	0.0065327287	0.00148	T	0.01097	0.28104	T	0.149	0.39377	.	.	0.529432775193	0.52591	0.14609813024330415	0.14531	0.489325189415	0.47699	0.619642496109	0.55679	T	0.275936	0.64849	T	-0.346799	0.04931	T	-0.289943	0.45778	T	0.00748320552429751	0.00086	T	0.968903	0.88824	D	0.048572093	0.08486	0.055888243	0.09886	0.048572093	0.08486	0.055888243	0.09885	-5.555	0.42379	T	.	.	0.179	0.39012	B	.;.;.;.;.	.;.;.;.;.	3.316846	0.45604	22.2	0.93702697147406677	0.23614	0.48485	0.28217	N	AEFDGBCI	0.119677	0.23348	N	-0.528974134801251	0.21147	1.120188	-0.424901408692912	0.24270	1.328046	0.999999987863462	0.74766	0.67177	0.52595	0	0.573116	0.20632	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.9	3.55	0.39770	1.026000	0.29708	7.060000	0.57403	0.756000	0.94297	0.271000	0.25055	1.000000	0.68203	0.354000	0.25750	0.863:0.0:0.137:0.0	9.892	0.40463	892	0.26670	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2050.33	37	chr8	124553449	.	A	G	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.126;DP=821;ExcessHet=0;FS=1.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.759;SOR=0.892	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	1464.83	34	chr8	125009277	.	A	G	1464.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.313;DP=762;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.59;SOR=0.865	GT:AD:DP:GQ:PL	0/1:37,28:65:99:567,0,827	17	0	2	0
chr8	125431108	125431108	C	T	exonic	TRIB1	.	nonsynonymous SNV	TRIB1:NM_025195:exon1:c.C206T:p.P69L	.	419	1101	2	0	0	2	0.000907441	.	.	.	2334600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.132602931267	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1001989436	2.624e-05	2.805e-05	1.479e-05	3.841e-05	0.0015	1.881e-05	1.638e-05	0.0006	0.0004	0	0	0	0	0	0.0015	1.731e-05	0.0002	2.284e-05	6.58e-06	6.569e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.095	0.31235	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.005318	0.32910	U	0.000000	0.999857	0.49910	D	1.28	0.32218	L	0.89	0.45636	T	-0.85	0.23156	N	0.185	0.20129	-1.0862	0.06191	T	0.062	0.25672	T	10	0.11716354	0.22119	T	0.132603	0.81494	D	0.046	0.12618	0.174	0.08014	0.252829632966	0.24901	0.5435856821232665	0.54284	0.491739428019	0.47854	0.89686357975	0.96084	D	0.162988	0.50787	T	-0.0820545	0.39380	T	-0.355642	0.38558	T	0.584045886993408	0.35774	D	0.572443	0.20452	T	0.06930915	0.15172	0.118595004	0.28626	0.06930915	0.15172	0.118595004	0.28625	-4.968	0.36490	T	.	.	0.098	0.16231	B	.	.	3.815286	0.55062	23.6	0.99622639413886616	0.75533	0.53435	0.29371	D	AEFDGBHCI	0.325906	0.42734	N	-0.406262765354314	0.25249	1.369253	-0.289478781316371	0.28444	1.586019	0.999999999982276	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	3.15	2.26	0.27418	0.900000	0.28062	7.361000	0.58346	0.503000	0.22915	0.988000	0.36536	1.000000	0.68203	0.865000	0.41091	0.0:0.8759:0.0:0.1241	8.204	0.30601	846	0.36215	Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	230.33	37	chr8	125431108	.	C	T	230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=651;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-1.319;SOR=0.731	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr8	127738855	127738855	C	G	exonic	MYC	.	nonsynonymous SNV	MYC:NM_001354870:exon2:c.C635G:p.P212R,MYC:NM_002467:exon2:c.C638G:p.P213R	Burkitt lymphoma, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.0762060227159	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221801220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.567e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052287	0.999998	0.58761	D	3.275	0.90144	M	1.01	0.41058	T	-6.79	0.92863	D	0.778	0.77507	-0.3274	0.74209	T	0.308	0.67831	T	10	0.9239751	0.91747	D	0.076206	0.72474	D	0.615	0.84986	0.809	0.92581	0.621560015809	0.61849	0.6528075985703793	0.65216	.	.	0.714992403984	0.69316	T	0.544987	0.84488	D	0.260968	0.79618	D	0.137086	0.79355	D	0.996220886707306	0.88912	D	0.935106	0.75644	D	0.5903562	0.72170	0.453574	0.68222	0.5903562	0.72171	0.453574	0.68222	-4.075	0.24920	T	0.3178454936435209	0.41592	0.642	0.70601	P	.;.;.;.;.	.;.;.;.;.	4.830575	0.78774	27.0	0.99767021410782575	0.85583	0.99198	0.92678	D	AEFDGBHCI	.	.	.	0.679497316968253	0.78290	6.841638	0.581149936540404	0.73589	5.995257	0.999999999997495	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.88	4.88	0.63131	5.768000	0.68510	7.475000	0.59195	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	17.368	0.87258	962	0.08456	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	36	chr8	127738855	.	C	G	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=790;ExcessHet=0;FS=11.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.105;SOR=1.75	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr8	131985016	131985016	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon16:c.A1717G:p.S573G,EFR3A:NM_001323554:exon16:c.A1717G:p.S573G,EFR3A:NM_001323555:exon16:c.A1717G:p.S573G,EFR3A:NM_001323556:exon16:c.A1717G:p.S573G,EFR3A:NM_001323557:exon16:c.A1717G:p.S573G,EFR3A:NM_001323558:exon16:c.A1825G:p.S609G,EFR3A:NM_015137:exon16:c.A1825G:p.S609G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.022292327744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.164	0.31026	T	0.982	0.60036	D	0.889	0.63100	P	0.000000	0.84330	D	0.078008	1	0.81001	D	2.475	0.71894	M	1.28	0.35960	T	-2.36	0.52128	N	0.817	0.81261	-0.7265	0.59140	T	0.203	0.56045	T	10	0.7168234	0.73401	D	0.022292	0.45163	T	0.247	0.55478	0.73	0.86373	0.651745054351	0.64884	0.6224435417194728	0.62177	0.337740173054	0.35759	0.737860500813	0.72658	T	0.103807	0.41280	T	0.0457965	0.57801	T	-0.171993	0.57261	T	0.917470514774323	0.57532	D	0.956938	0.83632	D	0.24130891	0.47045	0.23777299	0.49084	0.24130891	0.47045	0.23777299	0.49082	-9.23	0.71542	D	.	.	0.146	0.45605	B	.;.;.	.;.;.	4.703057	0.75479	26.3	0.99797219745229282	0.88194	0.97017	0.72210	D	AEFBI	0.770123	0.70517	D	0.690502273198681	0.79011	6.988244	0.668842858072658	0.80021	7.207174	0.999989191287882	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.945000	0.75753	11.153000	0.87408	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.600	0.68028	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1244.33	33	chr8	131985016	.	A	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.584;DP=760;ExcessHet=0;FS=4.373;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.189;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1312	18	0	1	0
chr8	132003281	132003281	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon22:c.A2248G:p.I750V,EFR3A:NM_001323554:exon22:c.A2248G:p.I750V,EFR3A:NM_001323555:exon22:c.A2248G:p.I750V,EFR3A:NM_001323556:exon22:c.A2248G:p.I750V,EFR3A:NM_001323557:exon22:c.A2248G:p.I750V,EFR3A:NM_015137:exon22:c.A2356G:p.I786V,EFR3A:NM_001323558:exon23:c.A2407G:p.I803V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00889147433088	0.0038	0.00239617	0.0045	0.0011	0.0064	0	0.0003	0.0063	0.0088	0.0016	0.0045019	696	154602	rs147579193	0.0060	0.0060	0.0061	0.0059	0.0070	0.0059	0.0058	0.0069	0.0069	0.0009	0.0063	0.0021	2.526e-05	0.0005	0.0061	0.0070	0.0058	0.0017	0.0044	0.0044	0.0043	0.0045	0.0089	0.0041	0.0040	0.0077	0.0072	0.0012	0.0176	0.0089	0.0029	0	0.0002	0.0068	0.0064	0.0062	0.0008	0.388	0.10909	T	0.41	0.14544	T	0.006	0.13644	B	0.024	0.20255	B	0.000001	0.84330	N	0.089876	0.999982	0.54805	D	1.995	0.54099	M	1.53	0.30401	T	-0.3	0.11913	N	0.334	0.37509	-1.0873	0.05995	T	0.051	0.21495	T	10	0.006929666	0.00157	T	0.008891	0.23439	T	0.075	0.21907	.	.	0.215869574891	0.21205	0.31041666110087357	0.30954	0.0537663119061	0.05938	0.534680366516	0.43693	T	0.003596	0.06790	T	-0.527604	0.00397	T	-0.524245	0.19865	T	0.0162182734190474	0.00396	T	0.785921	0.42389	T	0.047587257	0.08158	0.052349526	0.08607	0.047587257	0.08157	0.052349526	0.08606	-2.765	0.07865	T	.	.	0.101	0.32299	B	.;.;.	.;.;.	3.031683	0.40608	21.2	0.95113376504569735	0.26202	0.98256	0.80988	D	AEFGBI	0.546098	0.56034	D	-0.266557777652939	0.30448	1.697848	-0.162233678068028	0.32940	1.879106	0.909109245816487	0.26302	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.08	0.34576	4.355000	0.59199	7.086000	0.57489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8517:0.0:0.1483:0.0	9.118	0.35928	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1426.33	34	chr8	132003281	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.462;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.876;SOR=0.665	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:100,39:141:99:111,0,1520	4	0	12	3
chr8	132039103	132039103	G	A	exonic	OC90	.	nonsynonymous SNV	OC90:NM_001080399:exon7:c.C478T:p.H160Y	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0010	0.000998403	0.0022	0.0008	0.0030	0	0	0.0022	0.0106	0.0037	0.0015653	242	154602	rs139781048	0.0012	0.0012	0.0011	0.0013	0.0170	0.0011	0.0011	0.0143	0.0133	0.0014	0.0020	0.0107	0	0	0.0170	0.0008	0.0024	0.0025	0.0011	0.0011	0.0011	0.0011	0.0024	0.0010	0.0009	0.0017	0.0015	0.0006	0	0.0024	0.0092	0.0002	0	0.0238	0.0007	0.0047	0.0010	0.051	0.56456	T	0.034	0.52727	D	0.945	0.53279	P	0.74	0.55692	P	0.004293	0.33902	N	0.284900	0.999643	0.20796	N	1.775	0.45938	L	1.72	0.26588	T	-1.93	0.46842	N	0.296	0.33469	-1.1150	0.02673	T	0.043	0.18701	T	10	0.008422524	0.00191	T	.	.	.	0.058	0.16647	.	.	0.265929055128	0.26215	0.6251581982011559	0.62448	0.00750058978399	0.00664	0.261331796646	0.05051	T	0.053556	0.29476	T	-0.520189	0.00439	T	-0.52523	0.19765	T	0.0210623207116241	0.00808	T	0.831017	0.49766	T	0.13364954	0.31078	0.14786899	0.34975	0.13364954	0.31078	0.14786899	0.34975	-8.183	0.62310	D	.	.	0.086	0.14108	B	.;.	.;.	4.125894	0.61706	24.4	0.99655667389159486	0.77568	0.84100	0.43185	D	AEFDBI	0.297392	0.40698	N	0.293387317937072	0.55813	3.745385	0.313604758208095	0.56338	3.797043	0.387304361723974	0.20014	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.61	3.72	0.41857	3.101000	0.49974	7.409000	0.58630	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.976000	0.56436	0.0873:0.0:0.7504:0.1624	7.386	0.26058	785	0.46916	Phospholipase A2 domain|Phospholipase A2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.005051	0.031250	0.017544	0.050000	0.017241	0.000000	0.000000	0.02632	761.33	35	chr8	132039103	.	G	A	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=693;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.999;SOR=0.886	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr8	132100080	132100080	G	A	exonic	HHLA1	.	nonsynonymous SNV	HHLA1:NM_001145095:exon3:c.C194T:p.T65M	.	.	.	.	.	.	.	.	.	.	.	2202393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.02711588235	0.0011	0.000199681	0.0001	0.0014	0	0	0	0	0	0	2.59e-05	4	154602	rs377199177	7.505e-05	7.388e-05	8.181e-05	6.811e-05	0.0026	6.318e-05	5.846e-05	0.0022	0.0020	0.0026	0	0	2.798e-05	0	0.0002	6.49e-06	0.0002	2.524e-05	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0001	0	0.0002	0	0	1.47e-05	0.0005	0.0002	0.006	0.61437	D	0.024	0.59159	D	1.0	0.90584	D	0.951	0.68939	D	.	.	.	.	1	0.08975	N	1.955	0.52871	M	.	.	.	-2.01	0.46337	N	0.282	0.36569	-1.0020	0.29342	T	0.151	0.47944	T	8	0.0200485	0.00456	T	0.027116	0.49965	D	0.098	0.28162	.	.	0.0401082797425	0.02173	0.13392080382740013	0.13316	.	.	0.345793008804	0.17300	T	0.121788	0.44499	T	-0.351203	0.04652	T	-0.281559	0.46644	T	0.108317765684111	0.13249	T	0.775622	0.40735	T	0.047172196	0.08018	0.093908004	0.22205	0.047172196	0.08018	0.093908004	0.22205	-7.159	0.55186	T	.	.	0.155	0.35870	B	.;.	.;.	3.506220	0.49079	22.7	0.99702303208092324	0.80729	0.61333	0.31454	D	AEFBI	0.080338	0.16241	N	-0.00714980738356083	0.41530	2.485808	-0.145690691389297	0.33575	1.921971	5.83671322162926E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.63	2.74	0.31352	3.181000	0.50603	2.862000	0.35209	0.671000	0.69459	0.929000	0.32243	0.921000	0.28324	0.005000	0.06747	0.0:0.1627:0.6685:0.1688	8.970	0.35063	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2650.33	34	chr8	132100080	.	G	A	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=841;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.436;SOR=0.751	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1345	18	0	1	0
chr8	132615045	132615045	C	G	exonic	LRRC6	.	nonsynonymous SNV	LRRC6:NM_001321962:exon6:c.G721C:p.V241L,LRRC6:NM_001321963:exon8:c.G607C:p.V203L,LRRC6:NM_001321964:exon8:c.G607C:p.V203L,LRRC6:NM_012472:exon8:c.G967C:p.V323L,LRRC6:NM_001321965:exon9:c.G607C:p.V203L	Ciliary dyskinesia, primary, 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0257348950621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.35537	T	0.182	0.33442	T	0.741	0.42992	P	0.245	0.38823	B	0.000017	0.62929	D	0.068121	0.999957	0.52396	D	2.19	0.61577	M	-0.91	0.75001	T	-1.11	0.32590	N	0.664	0.69913	-0.3639	0.73147	T	0.321	0.68969	T	10	0.5684289	0.65182	D	0.025735	0.48694	D	0.140	0.37593	0.415	0.45380	0.540788926979	0.53731	0.3565611804508708	0.35570	0.0944205393079	0.10659	0.618504464626	0.55518	T	0.009798	0.22075	T	0.0398895	0.57031	T	-0.180478	0.56479	T	0.887204945087433	0.53768	D	0.927507	0.76468	D	0.18236344	0.39452	0.20554167	0.44728	0.18236344	0.39452	0.20554167	0.44727	-8.597	0.65069	D	.	.	0.375	0.58481	A	.;.;.;.;.	.;.;.;.;.	3.900673	0.56818	23.8	0.98991577516561191	0.49943	0.95738	0.65944	D	AEFI	0.612874	0.60078	D	0.34590435369314	0.58524	4.025117	0.408576527827058	0.62098	4.419675	0.884394735209087	0.25694	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.93	4.93	0.64394	4.954000	0.63335	4.847000	0.45339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.234	0.73109	928	0.17405	CS domain;CS domain;CS domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	991.33	36	chr8	132615045	.	C	G	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=726;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.63;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H,PHF20L1:NM_001362971:exon6:c.G616C:p.D206H,PHF20L1:NM_198513:exon6:c.G616C:p.D206H,PHF20L1:NM_016018:exon7:c.G694C:p.D232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	205.76	51	chr8	132804005	.	G	C	205.76	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.755;DP=1004;ExcessHet=0.7564;FS=127.828;InbreedingCoeff=-0.2588;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.111;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,6:38:14:.:.:0,14,738:.	9	0	4	6
chr8	132871398	132871398	A	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon4:c.A325G:p.I109V	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	700399	not_provided|Iodotyrosyl_coupling_defect|not_specified	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0154391425241	0.0045	0.000998403	0.0043	0.0006	0.0010	0	0.0029	0.0059	0.0011	0.0054	0.004282	662	154602	rs35301433	0.0049	0.0049	0.0048	0.0051	0.0059	0.0049	0.0048	0.0055	0.0054	0.0008	0.0009	0.0034	0	0.0031	0.0009	0.0055	0.0042	0.0059	0.0034	0.0034	0.0034	0.0033	0.0061	0.0031	0.0030	0.0056	0.0054	0.0009	0	0.0010	0.0012	0	0.0023	0	0.0061	0.0014	0.0023	0.005	0.63226	D	0.165	0.30926	T	0.304	0.32663	B	0.071	0.27960	B	0.978971	0.08107	N	0.988808	1	0.08975	N	1.23	0.30720	L	0.01	0.62459	T	-0.39	0.13611	N	0.043	0.01577	-0.9125	0.46543	T	0.092	0.35092	T	10	0.012245327	0.00264	T	0.015439	0.36172	T	0.096	0.27654	.	.	0.377097596864	0.37317	0.24495914726229218	0.24409	0.0612690219813	0.06824	0.298176556826	0.10130	T	0.021997	0.17036	T	-0.600014	0.00146	T	-0.628116	0.10558	T	0.0303269665478754	0.02040	T	0.464054	0.13535	T	0.23782098	0.46651	0.11801819	0.28489	0.197356	0.41598	0.07036059	0.14939	-2.8	0.08184	T	.	.	0.095	0.14751	B	.	.	-1.426739	0.00341	0.006	0.77606965583440191	0.11946	0.01803	0.05625	N	AEFGBI	0.055231	0.10111	N	-1.3193831207508	0.03453	0.1542971	-1.48616576317685	0.02457	0.1130557	0.999999999937121	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-11.2	0.00099	-4.465000	0.00264	-6.343000	0.01425	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.4893:0.4247:0.086:0.0	11.256	0.48288	882	0.29131	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	rs35301433	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1571.33	34	chr8	132871398	.	A	G	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.981;DP=781;ExcessHet=0;FS=3.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.149;SOR=0.985	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	34	chr8	132893891	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=733;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-2.069;SOR=1.038	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	18	0	1	0
chr8	132898216	132898216	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon13:c.C3187A:p.L1063M	Thyroid dyshormonogenesis 3, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	313087	not_specified|not_provided|Iodotyrosyl_coupling_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0082	0.0081869	0.0040	0.0338	0.0019	0	0	0.0002	0.0040	9.154e-05	0.0023932	370	154602	rs11992497	0.0009	0.0009	0.0010	0.0009	0.0306	0.0009	0.0009	0.0291	0.0284	0.0306	0.0012	0	0	5.657e-05	0.0027	8.032e-05	0.0022	0.0002	0.0083	0.0083	0.0084	0.0082	0.0290	0.0079	0.0078	0.0277	0.0271	0.0290	0	0.0020	0	0	0	0	0.0002	0.0076	0	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000536	0.43581	D	0.000000	0.961299	0.26113	N	2.34	0.67151	M	-0.06	0.63568	T	-1.08	0.28084	N	0.502	0.53445	-0.8855	0.49315	T	0.111	0.39888	T	10	0.006319672	0.00143	T	.	.	.	0.177	0.44549	.	.	0.759014107521	0.75682	0.3343158231967732	0.33344	0.408338008412	0.41673	0.394506037235	0.24302	T	0.239842	0.60804	T	-0.407493	0.02065	T	-0.335799	0.40819	T	0.0242922707031531	0.01182	T	0.624837	0.24114	T	0.5965675	0.72506	0.37360147	0.62544	0.5965675	0.72507	0.37360147	0.62543	-6.596	0.51022	T	0.7748856050662979	0.85550	0.217	0.44707	B	.	.	2.307428	0.29529	18.15	0.99431217794098847	0.64276	0.33816	0.24919	N	AEFDBI	0.130576	0.24919	N	0.103817991495538	0.46639	2.901324	-0.0471119606583764	0.37616	2.204851	0.964315165595309	0.28751	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.91	1.61	0.22752	0.734000	0.25769	0.713000	0.20952	0.549000	0.26987	0.413000	0.26274	0.196000	0.23534	0.354000	0.25750	0.0:0.5266:0.0:0.4734	6.990	0.23929	770	0.49152	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005061	0.000000	0.009511	0.008772	0.000000	0.000000	0.003086	0.000000	0.02632	553.33	33	chr8	132898216	.	C	A	553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=701;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.398;SOR=0.859	GT:AD:DP:GQ:PL	0/1:32,24:56:99:567,0,760	18	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2809.33	34	chr8	132941380	.	C	T	2809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=863;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=2.81;SOR=0.594	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	0	1	0
chr8	132969526	132969526	A	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon32:c.A5932G:p.I1978V	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0143156337975	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383182629	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.914	0.02344	T	1.0	0.01155	T	0.026	0.19406	B	0.012	0.16012	B	0.000986	0.40743	D	0.107332	0.93699	0.27233	N	0.935	0.23595	L	0.27	0.63240	T	0.06	0.06488	N	0.064	0.03613	-0.9989	0.30227	T	0.118	0.41473	T	10	0.10460681	0.19293	T	0.014316	0.34357	T	0.118	0.32913	0.207	0.12356	0.622825188919	0.61976	0.16295525352983975	0.16215	0.0597761031305	0.06645	0.307942509651	0.11597	T	0.061127	0.31572	T	-0.304366	0.08253	T	-0.493449	0.23031	T	0.0653362584504946	0.07980	T	0.675932	0.29103	T	0.04939171	0.08763	0.042661738	0.05131	0.04939171	0.08763	0.042661738	0.05131	-3.218	0.12701	T	0.20001635791572925	0.26534	0.081	0.08465	B	.;.	.;.	0.679793	0.10482	7.199	0.46501225941089003	0.03729	0.42003	0.26782	N	AEFDI	0.107638	0.21439	N	-0.404119424296804	0.25324	1.373876	-0.229139505611855	0.30497	1.717629	0.993600218144338	0.33282	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.18	0.35615	3.962000	0.56473	1.286000	0.25382	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.694000	0.33958	0.7198:0.0:0.2802:0.0	4.911	0.13177	551	0.72115	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1159.33	41	chr8	132969526	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.653;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.501;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	18	0	1	0
chr8	133013720	133013720	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon37:c.G6518A:p.R2173Q	Thyroid dyshormonogenesis 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	898969	Iodotyrosyl_coupling_defect|Inborn_genetic_diseases	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.00805274023783	7.7e-05	.	6.65e-05	9.72e-05	0	0.0001	0	3.022e-05	0	0.0002	5.17e-05	8	154602	rs377383606	5.817e-05	5.883e-05	3.95e-05	7.704e-05	0.0005	4.812e-05	4.433e-05	0.0004	0.0004	2.987e-05	0	0	7.557e-05	0	0.0002	2.788e-05	3.312e-05	0.0005	5.912e-05	5.91e-05	2.569e-05	9.412e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0.0008	0.698	0.06585	T	0.845	0.03558	T	0.002	0.15093	B	0.001	0.04355	B	0.936165	0.07565	N	1.033940	0.999999	0.08975	N	-0.52	0.02557	N	-0.01	0.66474	T	0.3	0.04694	N	0.103	0.08646	-0.9268	0.44602	T	0.088	0.33913	T	10	0.017719299	0.00380	T	0.008053	0.21342	T	0.128	0.35103	.	.	0.416454006429	0.41261	0.33525944202026803	0.33438	0.0786160445598	0.08843	0.174671888351	0.00055	T	0.05771	0.30642	T	-0.528059	0.00394	T	-0.660038	0.08264	T	0.0162835966350737	0.00399	T	0.553945	0.21854	T	0.055766635	0.10883	0.04763858	0.06905	0.055766635	0.10883	0.04763858	0.06905	-3.686	0.19112	T	0.09316408497925484	0.06100	0.063	0.01449	B	.;.	.;.	-1.190133	0.00541	0.013	0.66236086031612496	0.08000	0.01210	0.04304	N	AEFDBI	0.046165	0.07636	N	-1.63324923263023	0.01107	0.04808559	-1.59835776780882	0.01665	0.07561453	0.999997180510897	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	-6.31	0.01826	-2.281000	0.01238	-1.331000	0.05697	-3.272000	0.00101	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.3087:0.0:0.6913:0.0	14.509	0.67358	538	0.73119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1095.33	39	chr8	133013720	.	G	A	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.04;DP=807;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.576;SOR=0.882	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr8	133040076	133040076	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001282964:exon6:c.C458T:p.T153M,SLA:NM_001282965:exon6:c.C215T:p.T72M,SLA:NM_006748:exon6:c.C659T:p.T220M,SLA:NM_001045557:exon7:c.C590T:p.T197M,SLA:NM_001045556:exon8:c.C539T:p.T180M	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	7.7e-05	0.00279553	0.0036	0.0007	0	0.0023	0	0.0001	0	0.0093	0.0010543	163	154602	rs200019421	0.0006	0.0007	0.0004	0.0009	0.0094	0.0006	0.0006	0.0088	0.0086	0.0003	0.0001	0	8.18e-05	0	0.0009	6.645e-05	0.0008	0.0094	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	0.0003	0	6.536e-05	0	0.0002	0	0	0.0002	0.0005	0.0120	0.205	0.35726	T	0.127	0.41913	T	0.863	0.47474	P	0.162	0.34839	B	0.003439	0.34958	N	0.336188	0.924102	0.36766	D	1.73	0.44655	L	1.54	0.30133	T	-0.87	0.31981	N	0.122	0.16586	-1.0500	0.14397	T	0.059	0.24539	T	10	0.0037100315	0.00068	T	.	.	.	0.056	0.15993	.	.	0.165150595986	0.16160	0.27472116202853175	0.27385	0.505003373956	0.48759	0.375059366226	0.21555	T	0.257169	0.62816	T	-0.646737	0.00076	T	-0.694804	0.06115	T	0.0127358676898925	0.00215	T	0.826617	0.50835	T	0.02205633	0.00843	0.042060822	0.04925	0.02205633	0.00843	0.042060822	0.04925	-5.519	0.42416	T	.	.	0.078	0.16886	B	.;.;.;.;.	.;.;.;.;.	0.988867	0.13669	10.20	0.96444977396917952	0.29844	0.09662	0.15368	N	AEFDGBI	0.105711	0.21114	N	-0.335813017628666	0.27796	1.527985	-0.419779978315156	0.24417	1.336946	0.999999482864419	0.74766	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	5.77	3.96	0.45097	0.373000	0.20215	0.978000	0.23105	0.676000	0.76740	0.127000	0.23295	0.001000	0.17328	0.094000	0.17991	0.1551:0.0:0.8449:0.0	10.127	0.41828	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002561	0.000000	0.001374	0.000000	0.000000	0.008772	0.000000	0.011364	0.02632	512.33	37	chr8	133040076	.	G	A	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=734;ExcessHet=0;FS=7.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.248;SOR=1.721	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1239	18	0	1	0
chr8	133060105	133060105	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_006748:exon1:c.C176T:p.P59L,SLA:NM_001045557:exon2:c.C107T:p.P36L,SLA:NM_001282964:exon2:c.C107T:p.P36L,SLA:NM_001045556:exon3:c.C56T:p.P19L	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0133200614543	0.0005	0.000798722	0.0013	0.0002	0.0010	0.0001	0	0.0013	0.0023	0.0035	0.0011707	181	154602	rs142984250	0.0010	0.0010	0.0009	0.0011	0.0056	0.0010	0.0009	0.0041	0.0035	0.0002	0.0010	0.0004	2.531e-05	0.0002	0.0056	0.0010	0.0014	0.0026	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0010	0.0007	0.0002	0.0011	0.0010	0.0006	0	0	0	0.0009	0.0019	0.0019	0.186	0.61437	T	0.346	0.24193	T	0.0	0.02946	B	0.0	0.01387	B	0.695486	0.10138	N	0.877436	0.999829	0.20203	N	-0.17	0.04298	N	-1.21	0.78860	T	0.3	0.96961	N	0.093	0.15328	-0.9514	0.40730	T	0.183	0.53163	T	10	0.004124105	0.00081	T	0.01332	0.32631	T	0.063	0.18251	.	.	0.383609287871	0.37977	0.2273057139079158	0.22645	0.226615825231	0.25209	0.330873370171	0.15066	T	0.201249	0.55907	T	-0.421006	0.01685	T	-0.381513	0.35546	T	0.0144387951202033	0.00292	T	0.770523	0.57527	T	0.05445317	0.10451	0.079278484	0.17834	0.05445317	0.10450	0.079278484	0.17834	-3.798	0.20775	T	.	.	0.072	0.10594	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.029876	0.25795	16.89	0.98739727040567737	0.45482	0.07763	0.13762	N	AEFDBIJ	0.219184	0.34410	N	-0.782791865894155	0.13758	0.6801374	-0.668633054031643	0.17746	0.9450282	0.999994605122461	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.54	3.7	0.41607	1.588000	0.36242	4.428000	0.43340	-0.120000	0.14102	0.207000	0.24389	0.987000	0.30940	0.884000	0.42379	0.0896:0.1704:0.74:0.0	7.376	0.26002	816	0.41767	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008595	0.010101	0.006793	0.020710	0.000000	0.017241	0.003049	0.003788	0.02632	766.33	45	chr8	133060105	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=663;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-1.303;SOR=0.502	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	18	0	1	0
chr8	133102554	133102554	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001045557:exon1:c.C10T:p.R4W,SLA:NM_001282964:exon1:c.C10T:p.R4W	.	426	1088	7	1	0	9	0.00411899	0	0.024	.	2828538	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0046	0.00199681	0.0032	0.0023	0.0024	0	0	0.0039	0.0105	0.0029	0.0013001	201	154602	rs186646388	0.0050	0.0048	0.0050	0.0050	0.0058	0.0049	0.0049	0.0057	0.0057	0.0008	0.0017	0.0014	8.394e-05	0.0026	0.0021	0.0058	0.0037	0.0026	0.0037	0.0037	0.0040	0.0034	0.0062	0.0035	0.0034	0.0057	0.0055	0.0012	0.0219	0.0022	0.0017	0.0004	0.0023	0.0068	0.0062	0.0005	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.994535	0.81001	D	.	.	.	-1.34	0.79944	T	-0.19	0.14390	N	0.121	0.16308	-0.8188	0.54009	T	0.168	0.50681	T	8	0.00686118	0.00156	T	.	.	.	0.107	0.30369	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.501485	0.00561	T	-0.482737	0.24156	T	0.0658339253132563	0.08053	T	0.589941	0.21689	T	.	.	.	.	.	.	.	.	-3.926	0.22693	T	.	.	0.222	0.45285	B	.;.	.;.	0.592077	0.09604	6.379	0.9944515399919327	0.64971	0.05817	0.11756	N	AEFDGBCIJ	0.154220	0.27921	N	-0.829297387980121	0.12565	0.6132792	-1.03678240236627	0.08984	0.4445469	0.999999061036408	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.37	-4.28	0.03475	-0.095000	0.11043	-0.640000	0.08082	-0.748000	0.03609	0.033000	0.20612	0.000000	0.08366	0.064000	0.16252	0.1169:0.2026:0.2748:0.4057	1.683	0.02665	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	951.33	38	chr8	133102554	.	G	A	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=771;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.925;SOR=0.984	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1587	18	0	1	0
chr8	133133619	133133619	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon47:c.C8147T:p.S2716F	Thyroid dyshormonogenesis 3, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	1204062	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0484091471997	0.0006	0.000798722	0.0002	0.0018	0	0	0	1.52e-05	0.0011	0	0.0001552	24	154602	rs115574138	6.499e-05	6.498e-05	6.806e-05	6.188e-05	0.0013	5.428e-05	5.041e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0005	2.248e-05	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	6.536e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000066	0.52346	D	0.081660	0.973937	0.40106	D	2.87	0.83286	M	-0.32	0.68181	T	-4.06	0.84105	D	0.877	0.87481	-0.1159	0.79730	T	0.366	0.72620	T	10	0.054094672	0.05705	T	0.048409	0.63358	D	0.376	0.69443	.	.	0.894341928036	0.89329	0.5822501473707253	0.58154	0.391259802463	0.40325	0.488734126091	0.37262	T	0.568788	0.85688	D	-0.131656	0.31229	T	0.00273013	0.70513	D	0.153953880527797	0.17414	T	0.907909	0.67446	D	0.83676404	0.86378	0.71559757	0.83214	0.83676404	0.86379	0.71559757	0.83215	-5.966	0.45994	T	0.6654361425350854	0.73960	0.471	0.72307	A	.;.;.	.;.;.	4.874564	0.79886	27.2	0.99757781046164573	0.84772	0.89059	0.49302	D	AEFBI	0.718148	0.66944	D	0.579463536714644	0.71893	5.720803	0.5069506048791	0.68456	5.222638	0.999999722037718	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	5.656000	0.67659	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	15.785	0.78065	642	0.63909	Carboxylesterase, type B;Carboxylesterase, type B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1921.33	169	chr8	133133619	.	C	T	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=812;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.81;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr8	133475900	133475900	A	G	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon4:c.T125C:p.M42T,ST3GAL1:NM_173344:exon5:c.T125C:p.M42T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0056011704602	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762735522	1.573e-05	1.573e-05	1.77e-05	1.375e-05	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.65419	T	0.499	0.92824	T	0.358	0.33818	B	0.093	0.30104	B	0.058805	0.22372	N	0.526568	0.971089	0.25671	N	2.455	0.71248	M	2.36	0.16089	T	-0.35	0.75854	N	0.367	0.40864	-1.0540	0.13305	T	0.042	0.17952	T	10	0.17242432	0.32015	T	0.005601	0.14469	T	0.120	0.33359	0.452	0.51448	0.209943299407	0.20609	0.6831909761826378	0.68258	.	.	0.406052827835	0.25910	T	0.090266	0.38549	T	-0.133271	0.30966	T	-0.429211	0.30025	T	0.416291654109955	0.29553	T	0.69773	0.30785	T	0.09148948	0.21439	0.08254129	0.18846	0.09148948	0.21438	0.08254129	0.18846	-1.326	0.01443	T	.	.	0.180	0.61224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.580332	0.33455	19.34	0.97865870480737682	0.36499	0.94277	0.60656	D	AEFGBI	0.438087	0.49762	N	0.114486111247967	0.47138	2.943775	0.246174885406553	0.52433	3.418062	0.999922082624085	0.46280	0.706548	0.73137	0	0.577304	0.33150	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	3.959000	0.56451	10.569000	0.83441	0.658000	0.54486	0.984000	0.35821	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	13.199	0.59182	917	0.20147	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1746.33	40	chr8	133475900	.	A	G	1746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.763;SOR=0.709	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr8	134565356	134565356	T	C	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon10:c.A2767G:p.M923V,ZFAT:NM_001167583:exon11:c.A2917G:p.M973V,ZFAT:NM_001174158:exon11:c.A2917G:p.M973V,ZFAT:NM_020863:exon11:c.A2953G:p.M985V,ZFAT:NM_001029939:exon12:c.A2917G:p.M973V,ZFAT:NM_001289394:exon12:c.A2917G:p.M973V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0125427505478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	2.238e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.238e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.50676	D	0.021	0.70582	D	0.988	0.62325	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.991774	0.46766	D	1.58	0.39772	L	1.62	0.28189	T	-1.79	0.49018	N	0.811	0.82660	-0.9684	0.37530	T	0.139	0.45640	T	10	0.77066374	0.77056	D	0.012543	0.31203	T	0.197	0.47942	0.599	0.72984	0.308278614506	0.30437	0.49256777270015256	0.49177	0.464273658315	0.45902	0.688010931015	0.65420	T	0.030371	0.53640	T	0.0460227	0.57831	T	-0.171668	0.57291	T	0.936339437961578	0.60525	D	0.958704	0.85148	D	0.41479653	0.61744	0.3117766	0.57182	0.41479653	0.61744	0.3117766	0.57181	-8.927	0.68472	D	.	.	0.791	0.76874	P	.;.;.;.;.;.	.;.;.;.;.;.	4.541741	0.71401	25.7	0.99573140820814054	0.72501	0.67734	0.33541	D	AEFDGBCI	0.638347	0.61680	D	0.398809821571836	0.61359	4.335771	0.438193975762329	0.63962	4.640895	0.999999999996487	0.74766	0.638212	0.43195	0	0.52208	0.09955	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	5.841000	0.69123	7.764000	0.68349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.235	0.53821	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1340.33	45	chr8	134565356	.	T	C	1340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.704;DP=840;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.08;SOR=0.829	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr8	134602551	134602551	C	T	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.G982A:p.E328K,ZFAT:NM_001167583:exon6:c.G1132A:p.E378K,ZFAT:NM_001174158:exon6:c.G1132A:p.E378K,ZFAT:NM_020863:exon6:c.G1168A:p.E390K,ZFAT:NM_001029939:exon7:c.G1132A:p.E378K,ZFAT:NM_001289394:exon7:c.G1132A:p.E378K	.	424	1094	4	0	0	4	0.00182482	.	.	.	4102693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00520501955617	7.9e-05	0.000199681	7.462e-05	0	0.0002	0	0	9.008e-05	0	6.057e-05	8.41e-05	13	154602	rs374187776	6.294e-05	6.293e-05	6.671e-05	5.913e-05	0.0014	5.228e-05	4.846e-05	0.0007	0.0005	8.961e-05	8.944e-05	0	5.038e-05	1.879e-05	0.0014	5.306e-05	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.162e-05	6.719e-05	0.0001	7.895e-05	9.624e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0002	0.268	0.16144	T	0.403	0.19721	T	0.095	0.25437	B	0.018	0.18489	B	0.005710	0.32572	N	0.324438	0.999888	0.50402	D	0.69	0.16971	N	3.02	0.09635	T	-0.4	0.19509	N	0.233	0.26233	-1.0410	0.17011	T	0.015	0.06138	T	10	0.040314347	0.02589	T	0.005205	0.13248	T	0.033	0.08068	.	.	0.180583059064	0.17676	0.45501453353664156	0.45419	0.515292743488	0.49441	0.431982547045	0.29479	T	0.009752	0.29389	T	-0.502757	0.00552	T	-0.586501	0.13971	T	0.0388097614049911	0.03477	T	0.908709	0.67605	D	0.15454881	0.34975	0.092977345	0.21938	0.15454881	0.34974	0.092977345	0.21937	-8.864	0.68893	D	.	.	0.089	0.20547	B	.;.;.;.;.;.	.;.;.;.;.;.	2.985840	0.39842	21.0	0.9956244007288555	0.71892	0.27011	0.23157	N	AEFDGBCIJ	0.081117	0.16410	N	-0.358632804269765	0.26957	1.475235	-0.129770788925047	0.34195	1.964354	0.999999922736113	0.74766	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.74	4.8	0.61157	3.678000	0.54361	4.869000	0.45548	0.599000	0.40250	0.991000	0.37257	0.998000	0.33993	0.977000	0.56843	0.0:0.9098:0.0:0.0902	12.287	0.54116	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.008152	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2522.33	103	chr8	134602551	.	C	T	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=2002;ExcessHet=0;FS=2.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.585;SOR=0.759	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	18	0	1	0
chr8	134637595	134637595	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001167583:exon3:c.C278T:p.P93L,ZFAT:NM_001174157:exon3:c.C314T:p.P105L,ZFAT:NM_001174158:exon3:c.C278T:p.P93L,ZFAT:NM_020863:exon3:c.C314T:p.P105L,ZFAT:NM_001029939:exon4:c.C278T:p.P93L,ZFAT:NM_001289394:exon4:c.C278T:p.P93L	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0137744748591	0.0026	0.000399361	0.0032	0.0004	0.0012	0.0010	0.0008	0.0046	0.0033	0.0027	0.0030595	473	154602	rs146684203	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0036	0.0035	0.0006	0.0009	0.0096	0.0005	0.0020	0.0040	0.0037	0.0031	0.0030	0.0024	0.0024	0.0027	0.0022	0.0041	0.0022	0.0021	0.0037	0.0035	0.0006	0	0.0005	0.0092	0.0004	0.0013	0.0034	0.0041	0.0024	0.0015	0.149	0.25873	T	0.17	0.57104	T	0.004	0.12183	B	0.001	0.04355	B	0.642362	0.10587	N	0.833922	1	0.08975	N	1.7	0.43825	L	3.15	0.40749	T	-1.14	0.85247	N	0.108	0.11769	-1.0261	0.21723	T	0.067	0.27399	T	10	0.003590554	0.00065	T	0.013774	0.33422	T	0.047	0.12962	.	.	0.107399877778	0.10242	0.1345104382100156	0.13375	0.258302563221	0.28385	0.262367069721	0.05175	T	0.020214	0.44156	T	-0.559637	0.00255	T	-0.572931	0.15182	T	0.00435093853817475	0.00046	T	0.731327	0.36245	T	0.02190634	0.00819	0.032731384	0.02054	0.02190634	0.00819	0.032731384	0.02053	-3.617	0.21719	T	.	.	0.066	0.03552	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.908816	0.12830	9.345	0.66891786308827916	0.08192	0.11759	0.16843	N	AEFDGBI	0.068430	0.13498	N	-1.06053826346925	0.07382	0.3427704	-1.03567667578617	0.09008	0.4458205	0.999959064877607	0.48110	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.15	2.36	0.28258	1.983000	0.40270	0.767000	0.21364	-0.127000	0.13314	0.020000	0.19661	0.000000	0.08366	0.007000	0.07825	0.2241:0.0:0.7759:0.0	10.091	0.41620	980	0.04108	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1283.33	33	chr8	134637595	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.699;SOR=0.735	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1201	18	0	1	0
chr8	138152280	138152280	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A2195G:p.H732R,FAM135B:NM_015912:exon13:c.A2195G:p.H732R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00340978740355	.	0.000199681	4.993e-05	0	8.673e-05	0	0	7.532e-05	0	0	4.53e-05	7	154602	rs202075652	3.215e-05	3.215e-05	2.586e-05	3.85e-05	0.0012	2.478e-05	2.22e-05	0.0006	0.0004	0	0	0	0	0	0.0012	3.058e-05	3.311e-05	4.637e-05	3.283e-05	3.937e-05	5.14e-05	1.343e-05	6.533e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.533e-05	0	0	0	0	4.41e-05	0.0005	0	0.073	0.34800	T	0.74	0.04982	T	0.251	0.31212	B	0.025	0.20508	B	0.010160	0.30045	N	0.382967	0.669344	0.30378	N	2.215	0.62545	M	2.4	0.15608	T	-2.26	0.50502	N	0.14	0.13911	-1.0619	0.11288	T	0.044	0.18783	T	10	0.052045256	0.05179	T	0.00341	0.07664	T	0.050	0.13987	.	.	0.0675242888579	0.06100	0.25959047201955776	0.25873	0.0809696088702	0.09113	0.595278024673	0.52238	T	0.184271	0.53687	T	-0.287692	0.09870	T	-0.465123	0.26043	T	0.110937623470441	0.13520	T	0.740126	0.35895	T	0.07893153	0.18002	0.12052239	0.29084	0.07893153	0.18002	0.12052239	0.29083	-2.875	0.08896	T	.	.	0.077	0.06295	B	.	.	1.334388	0.17401	13.14	0.94268780865262813	0.24555	0.83289	0.42418	D	AEFDBI	0.306692	0.41377	N	-0.0549044670947652	0.39382	2.321646	-0.0467527894688909	0.37630	2.205962	1.2806468944554E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	1.91	0.24841	1.363000	0.33763	-0.058000	0.12460	0.665000	0.62972	1.000000	0.71638	0.887000	0.27779	0.558000	0.30364	0.0:0.1431:0.2983:0.5587	5.191	0.14534	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1750.33	142	chr8	138152280	.	T	C	1750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1657;ExcessHet=0;FS=3.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.384;SOR=1.043	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	18	0	1	0
chr8	138153213	138153213	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A1262G:p.H421R,FAM135B:NM_015912:exon13:c.A1262G:p.H421R	.	610	910	2	0	0	2	0.00109769	.	.	.	2428224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00451094409216	8.5e-05	.	0.0001	0.0001	9.314e-05	0	0.0002	0.0002	0	0.0001	9.7e-05	15	154602	rs201680316	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0015	0.0012	6.548e-05	9.512e-05	0	0	3.919e-05	0.0025	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0002	0.0008	9.218e-05	7.369e-05	0.0001	7.983e-05	8.055e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	0.033	0.44358	D	0.657	0.06576	T	0.047	0.21998	B	0.011	0.15521	B	0.204724	0.03345	N	1.526460	1	0.08975	N	2.14	0.59869	M	2.53	0.14038	T	-0.4	0.13805	N	0.204	0.22614	-0.9927	0.31906	T	0.028	0.11971	T	10	0.04423505	0.03359	T	0.004511	0.11094	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.1991046458980922	0.19827	0.0930818480898	0.10513	0.310355633497	0.11960	T	0.025892	0.19273	T	-0.476442	0.00776	T	-0.627318	0.10619	T	0.00870351120829582	0.00107	T	0.59564	0.22108	T	0.05561967	0.10834	0.053901404	0.09168	0.05561967	0.10833	0.053901404	0.09168	-2.6	0.06504	T	.	.	0.070	0.03661	B	.	.	0.941786	0.13173	9.676	0.85408612917582982	0.15874	0.18266	0.20189	N	AEFBI	0.086401	0.17518	N	-0.943613707526911	0.09837	0.4673286	-0.988271798962656	0.10048	0.5036574	1.11585448151231E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	-1.82	0.07433	0.542000	0.22930	0.246000	0.16368	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.645000	0.32557	0.0:0.1534:0.4358:0.4108	6.361	0.20634	962	0.08456	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	861.33	90	chr8	138153213	.	T	C	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.428;DP=1646;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.106;SOR=1.013	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,108,1620	18	0	1	0
chr8	138606392	138606392	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon58:c.C4093G:p.R1365G	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.114871447703	.	.	0.0002	0	0.0001	0	0	1.849e-05	0	0.0011	0.0001164	18	154602	rs768909983	7.325e-05	7.388e-05	3.133e-05	0.0001	0.0011	6.186e-05	5.746e-05	0.0009	0.0009	0	0	0	0	0	0.0003	4.498e-06	6.634e-05	0.0011	3.944e-05	3.941e-05	2.57e-05	5.383e-05	0.0012	1.716e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.163	0.23450	T	0.219	0.29153	T	0.037	0.20876	B	0.034	0.22546	B	0.006773	0.31811	N	0.145674	1	0.81001	D	2.22	0.62911	M	-3.32	0.93882	D	-2.18	0.49187	N	0.503	0.54059	0.233	0.86459	D	0.708	0.89944	D	10	0.119962215	0.22712	T	0.114871	0.79387	D	0.308	0.62947	0.407	0.44066	0.423954403188	0.42011	0.8100118202297213	0.80956	0.10884607698	0.12275	0.501184463501	0.38993	T	0.009642	0.08763	T	-0.195743	0.21420	T	-0.0994993	0.63437	T	0.126320918188953	0.15038	T	0.922808	0.72589	D	0.15230581	0.34580	0.14967641	0.35330	0.15230581	0.34580	0.14967641	0.35329	-8.162	0.64733	D	.	.	0.211	0.43842	B	.;.	.;.	4.241536	0.64305	24.7	0.98812862726489459	0.46655	0.96648	0.70202	D	AEFI	0.605530	0.59621	D	-0.0338203629532056	0.40327	2.393067	0.0796883200869347	0.43530	2.652747	0.00207284577182199	0.09135	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	4.51	0.54589	3.184000	0.50627	9.622000	0.81108	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.996000	0.76049	0.0:0.1464:0.7015:0.152	10.359	0.43167	992	0.01359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	33	chr8	138606392	.	G	C	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=721;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.589;SOR=0.652	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,109,1169	18	0	1	0
chr8	138688930	138688930	T	G	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon37:c.A2849C:p.E950A	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0793533886439	0.0008	0.000798722	0.0008	9.61e-05	0.0015	0	0	0.0011	0.0033	0.0002	0.0007503	116	154602	rs139003178	0.0006	0.0006	0.0006	0.0006	0.0069	0.0006	0.0006	0.0052	0.0046	0.0003	0.0016	0.0120	0	0	0.0069	0.0003	0.0018	0.0001	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0024	0.0022	0.0001	0	0.0031	0.0121	0	0	0.0102	0.0005	0.0024	0	0.565	0.06282	T	0.651	0.06713	T	0.993	0.65571	D	0.956	0.69739	D	0.006749	0.31824	U	0.137650	0.82145	0.28877	N	0.25	0.09762	N	-3.15	0.92938	D	-1.27	0.31981	N	0.2	0.29889	0.199	0.85887	D	0.775	0.92356	D	10	0.009265125	0.00209	T	0.079353	0.73214	D	0.403	0.71636	.	.	0.43912465853	0.43530	0.7423722033542218	0.74183	0.0892704095681	0.10086	0.469101905823	0.34557	T	0.003839	0.03252	T	-0.22353	0.17514	T	-0.118489	0.61927	T	0.0383178553043104	0.03389	T	0.855414	0.72323	D	0.12020602	0.28290	0.0699462	0.14801	0.12020602	0.28290	0.0699462	0.14800	-3.853	0.26316	T	.	.	0.123	0.25785	B	.;.	.;.	2.386070	0.30632	18.50	0.95267521415419276	0.26544	0.79974	0.39739	D	AEFDGI	0.128037	0.24565	N	0.229545541894588	0.52635	3.43649	0.20499199138698	0.50125	3.20778	0.00419187608266959	0.10453	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	1.147000	0.31213	2.134000	0.30799	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.922000	0.45779	0.0:0.0:0.0:1.0	9.214	0.36498	943	0.12886	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.030303	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1322.33	42	chr8	138688930	.	T	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.567;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1329	18	0	1	0
chr8	138883163	138883163	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon2:c.C10G:p.L4V	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0238572379187	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0	0.0016	0.0002264	35	154602	rs201768836	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0010	0.0009	0	7.28e-05	0	0	0	0.0017	8.454e-05	0.0003	0.0012	0.0001	0.0001	0.0001	0.0001	0.0006	7.569e-05	6.275e-05	0.0002	8.981e-05	0	0	6.53e-05	0	0.0002	0	0.0034	0.0002	0	0.0006	0.225	0.20912	T	0.095	0.40909	T	0.043	0.21573	B	0.011	0.15521	B	0.347642	0.13865	U	0.535469	1	0.08975	N	1.78	0.46185	L	-2.41	0.88533	D	-0.16	0.11185	N	0.234	0.36674	-0.6754	0.61584	T	0.425	0.76863	T	9	0.01710704	0.00363	T	0.023857	0.46837	T	0.056	0.15993	.	.	0.501183553247	0.49756	0.6089894613853721	0.60830	0.0852053008276	0.09633	0.405758738518	0.25870	T	5.05E-4	0.00188	T	-0.325341	0.06470	T	-0.296454	0.45098	T	0.0184988981434802	0.00566	T	0.521048	0.16963	T	0.04664437	0.07841	0.049727775	0.07660	0.04664437	0.07840	0.049727775	0.07660	-4.267	0.28720	T	.	.	0.084	0.15025	B	.;.	.;.	1.152386	0.15405	11.83	0.95786474441576686	0.27817	0.05061	0.10852	N	AEFDGBI	0.050307	0.08780	N	-0.884629666759599	0.11208	0.5396171	-0.898260262288224	0.12136	0.6224697	0.00155981509668587	0.08639	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	3.6	2.69	0.30923	1.100000	0.30637	3.573000	0.39130	0.618000	0.50648	0.009000	0.18154	0.582000	0.25626	0.019000	0.11356	0.0:0.0:0.7628:0.2371	8.235	0.30780	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	34	chr8	138883163	.	G	C	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.592;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1032	18	0	1	0
chr8	139618956	139618956	T	C	exonic	KCNK9	.	nonsynonymous SNV	KCNK9:NM_001282534:exon2:c.A427G:p.I143V	Birk-Barel mental retardation dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00285896538679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321749969	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	5.395e-05	4.042e-05	0	0	0	2.519e-05	0	0.0002	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.001226	0.39743	N	0.249479	0.99618	0.43063	D	0.74	0.18910	N	1.95	0.22474	T	-0.04	0.07590	N	0.154	0.16725	-1.0014	0.29516	T	0.020	0.08266	T	10	0.095469385	0.17053	T	0.002859	0.06015	T	0.036	0.09122	0.398	0.42590	0.236278675362	0.23226	0.8510158740642203	0.85063	0.917897762411	0.71318	0.697021842003	0.66714	T	0.162616	0.50735	T	-0.435548	0.01374	T	-0.626742	0.10663	T	0.0165644796656419	0.00418	T	0.734227	0.35027	T	0.021495776	0.00756	0.027372578	0.00886	0.021495776	0.00755	0.027372578	0.00885	-3.122	0.11551	T	.	.	0.074	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.580883	0.20228	14.65	0.39398626038232476	0.02716	0.92993	0.57055	D	AEFDGBI	0.427296	0.49130	N	-0.697769689232345	0.16084	0.8164225	-0.472218592968051	0.22923	1.247482	0.00435406639518044	0.10513	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	2.2	0.26966	3.810000	0.55318	0.956000	0.22957	-0.147000	0.12262	1.000000	0.71638	0.780000	0.26771	0.963000	0.52385	0.0:0.1449:0.2816:0.5735	5.394	0.15560	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2528.33	39	chr8	139618956	.	T	C	2528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.135;DP=947;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.421;SOR=0.91	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr8	139910284	139910284	C	G	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon19:c.G2800C:p.D934H,TRAPPC9:NM_001374683:exon19:c.G2716C:p.D906H,TRAPPC9:NM_001374684:exon19:c.G2683C:p.D895H,TRAPPC9:NM_001160372:exon20:c.G2827C:p.D943H,TRAPPC9:NM_031466:exon20:c.G2827C:p.D943H,TRAPPC9:NM_001374682:exon21:c.G2848C:p.D950H	Mental retardation, autosomal recessive 13, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	313276	Inborn_genetic_diseases|not_provided|Intellectual_Disability,_Recessive	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN239290	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.016237788969	7.7e-05	0.000599042	0.0002	0	0	0.0017	0	0.0002	0	0.0002	0.0002005	31	154602	rs144046998	9.44e-05	9.44e-05	0.0001	8.25e-05	0.0014	8.134e-05	7.65e-05	0.0011	0.0010	0	0	0.0007	0.0014	0	0.0002	2.158e-05	0.0002	0.0003	0.0001	0.0001	8.993e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0008	0	0	0	0.0009	0.0019	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.022	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.051064	0.999999	0.58761	D	2.25	0.63811	M	.	.	.	-3.68	0.70314	D	0.881	0.88027	-0.5130	0.68176	T	0.350	0.71407	T	9	0.12806788	0.24360	T	0.016238	0.37399	T	0.427	0.73445	.	.	0.478144874143	0.47444	0.3884458762403192	0.38759	0.452047251807	0.44938	0.740373373032	0.73028	T	0.299927	0.67243	T	0.0427237	0.57401	T	0.253215	0.85770	D	0.146305330273442	0.16805	T	0.90041	0.65400	D	0.7603334	0.81473	0.71539515	0.83203	0.7603334	0.81474	0.71539515	0.83204	-7.553	0.58604	D	.	.	0.297	0.52784	B	.;.;.;.	.;.;.;.	5.077105	0.84710	28.4	0.99696640447176721	0.80316	0.97763	0.76955	D	AEFDGI	0.779949	0.71199	D	0.445780825537574	0.63963	4.640723	0.525780389728075	0.69730	5.402327	0.999999999917913	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	5.442000	0.66324	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.649	0.91381	963	0.08280	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	897.33	38	chr8	139910284	.	C	G	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=742;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.832;SOR=0.571	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1256	18	0	1	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S,TRAPPC9:NM_001374684:exon18:c.G2653A:p.G885S,TRAPPC9:NM_001160372:exon19:c.G2797A:p.G933S,TRAPPC9:NM_031466:exon19:c.G2797A:p.G933S,TRAPPC9:NM_001374682:exon20:c.G2818A:p.G940S	Mental retardation, autosomal recessive 13, Autosomal recessive	4	1463	53	2	0	57	0.0191083	.	.	.	136075	not_provided|Intellectual_Disability,_Recessive|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MedGen:CN239290|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021368	0.000000	0.010638	0.017483	0.000000	0.064103	0.016529	0.053571	0.05263	5850.83	41	chr8	139988739	.	C	T	5850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.8;DP=1228;ExcessHet=0.119;FS=0.374;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.89;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	17	0	2	0
chr8	140287652	140287652	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon12:c.C1910T:p.T637M,TRAPPC9:NM_001374684:exon12:c.C1793T:p.T598M,TRAPPC9:NM_001160372:exon13:c.C1937T:p.T646M,TRAPPC9:NM_001374683:exon13:c.C1937T:p.T646M,TRAPPC9:NM_031466:exon13:c.C1937T:p.T646M,TRAPPC9:NM_001374682:exon14:c.C1958T:p.T653M	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2010507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.0184233097924	.	.	1.649e-05	9.619e-05	0	0.0001	0	0	0	0	1.94e-05	3	154602	rs557827787	5.472e-06	5.472e-06	4.084e-06	6.875e-06	2.519e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	1.159e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.909	0.64565	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	2.045	0.56016	M	.	.	.	-2.17	0.50175	N	0.871	0.86941	-0.4825	0.69277	T	0.354	0.71712	T	9	0.7631878	0.76503	D	0.018423	0.40478	T	0.277	0.59375	0.722	0.85673	0.40218521252	0.39833	0.4464747707900825	0.44565	1.44319622398	0.86010	0.767926156521	0.77114	T	0.072864	0.34558	T	0.260661	0.79590	D	0.318173	0.89015	D	0.712437847970571	0.41320	D	0.953005	0.82069	D	0.28533068	0.51555	0.36531103	0.61882	0.28533068	0.51555	0.36531103	0.61882	-9.007	0.68369	D	.	.	0.211	0.49137	B	.;.;.;.	.;.;.;.	5.536618	0.91924	32	0.99898954225762637	0.97124	0.98075	0.79386	D	AEFGBI	0.840050	0.75739	D	0.692320295036101	0.79129	7.012978	0.707433088601919	0.82942	7.893966	0.999999999993838	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.337000	0.96437	9.677000	0.81235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:1.0:0.0	18.246	0.89921	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2242.33	170	chr8	140287652	.	G	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=876;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.106;SOR=0.729	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr8	140451166	140451166	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001160372:exon2:c.G208A:p.D70N,TRAPPC9:NM_001321646:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374682:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374683:exon2:c.G208A:p.D70N,TRAPPC9:NM_001374684:exon2:c.G208A:p.D70N,TRAPPC9:NM_031466:exon2:c.G208A:p.D70N	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.670	0.0230825975959	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs187524836	2.052e-06	2.052e-06	0	4.125e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.131	0.38305	T	0.999	0.90584	D	0.984	0.77976	D	0.000000	0.84330	D	0.043957	0.999935	0.51612	D	2.34	0.67151	M	.	.	.	-3.85	0.74051	D	0.823	0.83269	-0.6238	0.63831	T	0.082	0.32237	T	9	0.8407812	0.83234	D	0.023083	0.46020	T	0.670	0.87771	.	.	0.262662153117	0.25859	0.7570386167073	0.75651	1.39057706076	0.84979	0.685470163822	0.65054	T	0.322853	0.69382	T	0.00619206	0.52504	T	-0.228882	0.51880	T	0.991126954555511	0.81382	D	0.962254	0.85785	D	0.5958332	0.72466	0.44706824	0.67799	0.5958332	0.72468	0.44706824	0.67800	-10.077	0.74372	D	.	.	0.450	0.69881	A	.;.;.;.	.;.;.;.	4.569133	0.72067	25.8	0.99915049524224508	0.98309	0.98592	0.84463	D	AEFDGBI	0.871464	0.79287	D	0.717713068359438	0.80794	7.37377	0.672682144464641	0.80312	7.270534	0.999999999514611	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	4.57	0.55860	7.798000	0.84489	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.9283:0.0:0.0717	14.253	0.65578	987	0.02648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	232	chr8	140451166	.	C	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=2325;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.109;SOR=0.881	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	18	0	1	0
chr8	141357695	141357695	C	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.G229A:p.V77I	.	.	.	.	.	.	.	.	.	.	.	2203134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0402025898077	7.7e-05	.	5.002e-05	0	0	0	0	9.134e-05	0	0	3.88e-05	6	154602	rs374341766	5.201e-05	5.199e-05	5.039e-05	5.365e-05	6.295e-05	4.26e-05	3.889e-05	5.074e-05	4.653e-05	2.987e-05	0	0	0	0	0	6.295e-05	4.968e-05	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.042	0.50226	D	0.994	0.66517	D	0.726	0.55126	P	0.000002	0.62929	D	0.000000	0.995841	0.42885	D	2.12	0.58754	M	1.08	0.39401	T	-0.46	0.14978	N	0.321	0.36148	-0.7990	0.55203	T	0.181	0.52843	T	10	0.2740212	0.44953	T	0.040203	0.59246	D	0.128	0.35103	.	.	0.442567846599	0.43878	0.3362610782119568	0.33539	0.807964130137	0.66590	0.623328387737	0.56199	T	0.023369	0.17850	T	-0.203674	0.20278	T	-0.325789	0.41937	T	0.558865070343018	0.34812	D	0.867413	0.56831	D	0.52391607	0.68484	0.5950908	0.76494	0.52391607	0.68485	0.5950908	0.76495	-6.76	0.52261	T	.	.	0.116	0.23465	B	.	.	4.003608	0.59012	24.0	0.99852721221208218	0.93191	0.93534	0.58479	D	AEFGBI	0.564356	0.57118	D	0.440190350704416	0.63648	4.602734	0.409004172343725	0.62125	4.422808	0.999997073795938	0.74766	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.62	4.62	0.56946	2.335000	0.43588	4.764000	0.44733	0.594000	0.32500	0.956000	0.33378	1.000000	0.68203	0.849000	0.40138	0.0:1.0:0.0:0.0	16.417	0.83583	934	0.15400	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3897.33	318	chr8	141357695	.	C	T	3897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1051;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.269;SOR=0.704	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr8	141476002	141476002	C	T	exonic	MROH5	.	unknown	UNKNOWN	.	414	1083	23	2	0	27	0.0123119	.	.	.	2828572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0048	0.00219649	0.0067	0.0010	0.0025	0	0.0205	0.0085	0.0130	0.0045	0.0047412	733	154602	rs191505452	0.0045	0.0045	0.0045	0.0045	0.0118	0.0044	0.0044	0.0094	0.0086	0.0003	0.0022	0.0190	2.521e-05	0.0117	0.0118	0.0042	0.0049	0.0035	0.0054	0.0054	0.0049	0.0059	0.0074	0.0051	0.0049	0.0069	0.0067	0.0005	0.0197	0.0040	0.0176	0	0.0110	0.0204	0.0074	0.0071	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	0.0040850043	0.00080	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	0.295385926962	0.09714	T	.	.	.	-0.599191	0.00147	T	-0.619193	0.11248	T	.	.	.	0.29517	0.05454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11317	B	.	.	-0.360341	0.02365	0.258	0.39766451494619692	0.02764	0.00174	0.01026	N	AEFDGBI	0.016045	0.00338	N	.	.	.	.	.	.	0.948378413831652	0.27797	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.47	-4.94	0.02830	-0.899000	0.04209	-3.806000	0.02525	-1.181000	0.01386	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1762:0.3417:0.2077:0.2745	0.817	0.01034	894	0.26265	.	.	.	.	.	rs191505452	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011651	0.005155	0.009511	0.020468	0.000000	0.008621	0.009317	0.015267	0.02632	1236.33	34	chr8	141476002	.	C	T	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=766;ExcessHet=0;FS=1.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.953;SOR=0.555	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1322	18	0	1	0
chr8	141478754	141478754	G	T	exonic	MROH5	.	unknown	UNKNOWN	.	432	1085	5	0	0	5	0.00229885	.	.	.	2685481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0007	0.0005	0	0	0.0011	0.0005	0.0037	0.0017	0.0004463	69	154602	rs183010398	0.0010	0.0010	0.0010	0.0009	0.0014	0.0009	0.0009	0.0012	0.0011	0.0002	0	0	0	0.0009	0	0.0011	0.0006	0.0014	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0.0002	0	0	0	0.0002	0.0012	0	0.0007	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.014357865	0.00302	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	.	.	.	.	0.432042717934	0.29487	T	.	.	.	-0.512327	0.00487	T	-0.549232	0.17399	T	.	.	.	0.381762	0.09261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40489	B	.	.	2.380378	0.30556	18.47	0.99184275873329519	0.54789	0.46569	0.27789	N	AEFDGBI	0.066270	0.12970	N	.	.	.	.	.	.	0.00902435597756119	0.11783	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	0.456	0.15868	1.014000	0.29553	-0.064000	0.12386	0.500000	0.22704	0.882000	0.31029	0.389000	0.24654	0.040000	0.14268	0.3026:0.0:0.5033:0.194	3.234	0.06358	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	793.33	41	chr8	141478754	.	G	T	793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=760;ExcessHet=0;FS=1.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.742;SOR=0.469	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1433	18	0	1	0
chr8	141496368	141496368	G	A	exonic	MROH5	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310316334	3.421e-06	3.42e-06	6.808e-06	0	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2331.33	42	chr8	141496368	.	G	A	2331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.627;DP=856;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.17;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr8	142229492	142229492	G	A	exonic	TSNARE1	.	stopgain	TSNARE1:NM_001363740:exon13:c.C1537T:p.R513X,TSNARE1:NM_001366901:exon13:c.C1531T:p.R511X,TSNARE1:NM_145003:exon13:c.C1534T:p.R512X	.	422	1099	1	0	0	1	0.000454752	.	.	.	722880	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.0091853	0.0025	0.0272	0.0010	0	0	0.0001	0.0022	0	0.0023997	371	154602	rs11988455	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0226	0.0246	0.0013	0	0.0001	0	0.0010	8.274e-05	0.0014	2.319e-05	0.0071	0.0071	0.0075	0.0067	0.0244	0.0067	0.0066	0.0232	0.0227	0.0244	0	0.0027	0.0003	0	0	0	0.0002	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.042	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0176768	0.49184	T	0.221429	0.84247	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;Tolerant	.;High;High	6.096054	0.94551	34	0.84807949294017182	0.15509	0.03054	0.07954	N	AEFGBCI	0.029643	0.02836	N	-0.618024701370476	0.18402	0.9551591	-1.01180241789296	0.09525	0.4743847	0.0352351238447053	0.14191	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-1.18	0.09122	-0.030000	0.12257	-2.616000	0.03545	-1.468000	0.01074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2657:0.0:0.5412:0.193	3.605	0.07586	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1855.33	36	chr8	142229492	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.255;DP=815;ExcessHet=0;FS=2.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=2.23;SOR=0.522	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr8	142344145	142344145	C	T	exonic	TSNARE1	.	nonsynonymous SNV	TSNARE1:NM_001363740:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366901:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366902:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366903:exon4:c.G566A:p.R189Q,TSNARE1:NM_001366904:exon4:c.G566A:p.R189Q,TSNARE1:NM_145003:exon4:c.G566A:p.R189Q	.	.	.	.	.	.	.	.	.	.	.	722882	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0680099521972	0.0032	0.000599042	0.0017	0.0005	0.0006	0	0	0.0028	0.0011	6.13e-05	0.0016429	254	154602	rs144961640	0.0036	0.0036	0.0037	0.0035	0.0045	0.0035	0.0035	0.0044	0.0043	0.0006	0.0015	0.0003	0	0.0003	0.0007	0.0045	0.0027	0.0001	0.0022	0.0022	0.0023	0.0021	0.0038	0.0020	0.0020	0.0034	0.0033	0.0008	0	0.0027	0.0003	0	9.407e-05	0	0.0038	0.0005	0.0002	0.0	0.91255	D	0.121	0.35840	T	0.997	0.70673	D	0.777	0.57175	P	0.007276	0.31496	U	0.000000	1	0.81001	D	1.61	0.41143	L	2.72	0.11947	T	-0.73	0.20576	N	0.261	0.29544	-1.0864	0.06155	T	0.043	0.18701	T	10	0.00959602	0.00216	T	0.06801	0.70330	D	0.094	0.27141	.	.	0.310458034454	0.30648	0.3069164497292656	0.30604	0.385573126211	0.39849	0.565623879433	0.48060	T	0.01545	0.12960	T	-0.525607	0.00408	T	-0.530511	0.19236	T	0.0536597841013476	0.06132	T	0.858914	0.54988	D	0.14789355	0.33789	0.0774748	0.17261	0.14789355	0.33788	0.0774748	0.17261	-16.303	0.98180	D	.	.	0.644	0.70690	P	.;.;.	.;.;.	3.234089	0.44118	21.9	0.99926995633289861	0.99163	0.05445	0.11321	N	AEFDGBI	0.057967	0.10840	N	-0.0387487489977749	0.40105	2.376201	-0.157682887027994	0.33113	1.89084	0.760550142259518	0.23503	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.92	1.99	0.25423	-0.239000	0.08983	0.654000	0.20444	0.568000	0.28809	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.1894:0.7027:0.0:0.108	5.948	0.18466	951	0.11083	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2060.33	40	chr8	142344145	.	C	T	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=848;ExcessHet=0;FS=5.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.68;SOR=0.391	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	18	0	1	0
chr8	142464884	142464884	C	A	exonic	ADGRB1	.	nonsynonymous SNV	ADGRB1:NM_001702:exon2:c.C686A:p.A229D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0165849331979	.	0.000199681	0.0003	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs569958433	2.188e-05	2.531e-05	1.295e-05	3.107e-05	0.0003	1.552e-05	1.347e-05	0.0002	0.0002	0	0	0	0	0	0	7.457e-06	1.749e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.661	0.04685	T	0.676	0.06186	T	.	.	.	.	.	.	0.498214	0.11979	U	0.696895	1	0.08975	N	.	.	.	1.66	0.27486	T	-0.36	0.13035	N	0.164	0.20262	-0.9852	0.33784	T	0.024	0.10239	T	10	0.025648057	0.00753	T	0.016585	0.37919	T	0.008	0.00669	0.247	0.18293	0.0934897674506	0.08844	0.2844900446850789	0.28362	1.93509585189	0.93180	0.7485871315	0.74238	T	0.088181	0.38103	T	-0.51849	0.00449	T	-0.682227	0.06848	T	0.0250097891523345	0.01274	T	0.60064	0.22426	T	0.081313685	0.18676	0.11456113	0.27653	0.081313685	0.18676	0.11456113	0.27653	-4.247	0.27427	T	.	.	0.103	0.18456	B	.;.;.	.;.;.	-0.900040	0.00925	0.035	0.62331280838397651	0.06935	0.06722	0.12743	N	AEFDGBHCI	0.079920	0.16150	N	-1.53655060834308	0.01614	0.07058646	-1.59168768684099	0.01706	0.07751376	0.993996251128245	0.33443	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.59	-3.88	0.03927	-3.566000	0.00479	-2.132000	0.04165	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2592:0.3598:0.3811	5.931	0.18373	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	36	chr8	142464884	.	C	A	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.101;DP=733;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.61;SOR=0.448	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1104	18	0	1	0
chr8	142613667	142613667	T	A	exonic	ARC	.	nonsynonymous SNV	ARC:NM_015193:exon1:c.A605T:p.D202V	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0539866024974	0.0002	0.000599042	0.0005	0	0	0	0	0.0002	0.0015	0.0040	0.0003816	59	154602	rs140481166	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0023	0.0022	0	6.959e-05	0	0	0	0.0030	0.0001	0.0004	0.0026	0.0001	0.0001	0.0001	0.0002	0.0021	9.739e-05	8.254e-05	0.0011	0.0009	0	0	6.534e-05	0	0	0	0.0034	0.0001	0	0.0021	0.002	0.72154	D	0.005	0.72224	D	0.343	0.33512	B	0.208	0.37221	B	0.000821	0.41547	U	0.098086	0.999758	0.48800	D	0.345	0.11182	N	1.37	0.34253	T	-2.79	0.59059	D	0.453	0.49055	-1.0713	0.09129	T	0.051	0.21533	T	10	0.008679837	0.00197	T	0.053987	0.65682	D	0.205	0.49236	.	.	0.264728329957	0.26087	0.5469543250316121	0.54621	2.18874785332	0.95615	0.720966219902	0.70187	T	0.539679	0.84216	D	-0.370199	0.03584	T	-0.307907	0.43882	T	0.0705889823168461	0.08734	T	0.676632	0.28519	T	0.2481383	0.47797	0.17158112	0.39351	0.2481383	0.47797	0.17158112	0.39350	-4.071	0.24861	T	.	.	0.263	0.49731	B	.	.	3.867876	0.56134	23.7	0.99028300050835105	0.50742	0.80243	0.39932	D	AEFGBCI	0.268235	0.38477	N	-0.226452718200845	0.32051	1.803533	-0.121905515665118	0.34508	1.985781	0.999971802603447	0.50053	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.562822	0.20929	0	.	.	4.56	4.56	0.55644	2.211000	0.42465	7.721000	0.67307	0.665000	0.62972	0.983000	0.35670	1.000000	0.68203	0.087000	0.17632	0.0:0.209:0.0:0.791	5.601	0.16636	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	1176.33	42	chr8	142613667	.	T	A	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=964;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.732;SOR=0.721	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr8	142664437	142664437	A	C	exonic	JRK	.	nonsynonymous SNV	JRK:NM_003724:exon2:c.T1622G:p.V541G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.544e-05	0	9.533e-05	0	0	0	0.0014	0.0004	5.17e-05	8	154602	rs782329244	5.141e-05	5.13e-05	3.136e-05	7.168e-05	0.0008	4.2e-05	3.831e-05	0.0007	0.0006	0	0	0	0	0	0	0	4.979e-05	0.0008	1.314e-05	1.312e-05	1.286e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.06990	.	.	.	.	.	.	.	0.041669846	0.02843	T	.	.	.	.	.	.	.	0.458374381611	0.45463	0.21582102921241278	0.21498	.	.	.	.	.	.	.	.	-0.273166	0.11406	T	-0.257896	0.49035	T	.	.	.	0.252275	0.03843	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.100	0.17232	B	.;.	.;.	2.184517	0.27845	17.60	0.85122407987776338	0.15698	0.09234	0.15031	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999989442810219	0.51787	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.221052	0.04502	0	0.0600328	0.14388	3.92	1.42	0.21524	1.148000	0.31226	2.679000	0.34003	0.756000	0.94297	0.003000	0.16062	0.052000	0.21854	0.951000	0.49849	0.5901:0.0:0.4099:0.0	4.964	0.13429	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	884.33	44	chr8	142664437	.	A	C	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=707;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.174;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	18	0	1	0
chr8	142664605	142664605	A	G	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.T1454C:p.V485A,JRK:NM_001279352:exon2:c.T1454C:p.V485A,JRK:NM_003724:exon2:c.T1454C:p.V485A	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-06	0	0	0	0	1.753e-05	0	0	1.94e-05	3	154602	rs782474051	3.705e-05	3.762e-05	2.321e-05	5.105e-05	0.0009	2.903e-05	2.6e-05	0.0003	0.0002	0	2.248e-05	0	0	0	0.0009	3.961e-05	6.635e-05	0	2.632e-05	2.628e-05	0	5.388e-05	6.547e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0	0	9.443e-05	0	2.943e-05	0	0	.	.	.	1.0	0.02447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.53	0.30401	T	.	.	.	0.023	0.04668	.	.	.	.	.	.	.	0.06420535	0.08481	T	.	.	.	.	.	.	.	0.366848117066	0.36290	0.1965429580672276	0.19571	.	.	0.401578873396	0.25289	T	.	.	.	-0.394527	0.02514	T	-0.638631	0.09769	T	.	.	.	0.266973	0.04402	T	0.018116843	0.00334	0.062648326	0.12288	0.018116843	0.00334	0.062648326	0.12287	-4.365	0.32484	T	.	.	0.055	0.00847	B	.;.;.;.	.;.;.;.	-0.450839	0.02030	0.183	0.8137947875727426	0.13656	0.00404	0.02015	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999905274962746	0.45458	0.256867	0.04430	0	0.271743	0.05004	0	0.254355	0.05125	0	0.221052	0.04502	0	0.0662382	0.15782	3.61	0.604	0.16725	-0.165000	0.09957	-0.805000	0.07358	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2476:0.211:0.5415:0.0	3.593	0.07543	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.000000	0.008876	0.000000	0.000000	0.003067	0.003788	0.02632	960.33	44	chr8	142664605	.	A	G	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=743;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.17;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	18	0	1	0
chr8	142664755	142664755	C	T	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.G1304A:p.R435H,JRK:NM_001279352:exon2:c.G1304A:p.R435H,JRK:NM_003724:exon2:c.G1304A:p.R435H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0007	0	0.0005	0	0	6.653e-05	0	0.0032	0.0003687	57	154602	rs587712483	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	9.091e-05	0	0	0	0	0.0002	8.166e-05	0.0003	0.0027	0.0002	0.0002	6.427e-05	0.0003	0.0046	0.0001	9.7e-05	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0046	.	.	.	0.142	0.33554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41	0.33412	T	.	.	.	0.053	0.03956	.	.	.	.	.	.	.	0.0044516027	0.00091	T	.	.	.	.	.	.	.	0.310458034454	0.30648	0.20467322533298568	0.20384	.	.	0.314672708511	0.12613	T	.	.	.	-0.525654	0.00407	T	-0.532457	0.19043	T	.	.	.	0.593841	0.21938	T	0.062292833	0.12995	0.075464904	0.16617	0.062292833	0.12994	0.075464904	0.16617	-4.785	0.34416	T	.	.	0.088	0.12228	B	.;.;.;.	.;.;.;.	1.364972	0.17746	13.34	0.45369236445793831	0.03556	0.05786	0.11720	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999697061442166	0.41870	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.117559	0.03655	0	0.0515843	0.10534	3.42	1.49	0.21966	0.450000	0.21475	0.215000	0.16006	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2561:0.6049:0.0:0.139	3.403	0.06906	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	622.33	44	chr8	142664755	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=1186;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=0.579;SOR=0.693	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	18	0	1	0
chr8	142665202	142665202	A	G	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.T857C:p.I286T,JRK:NM_001279352:exon2:c.T857C:p.I286T,JRK:NM_003724:exon2:c.T857C:p.I286T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.768e-06	1.59e-06	0	3.277e-06	3.154e-06	0	0	.	.	0	0	0	0	0	0	3.154e-06	0	0	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.48	0.31731	T	.	.	.	0.139	0.16864	.	.	.	.	.	.	.	0.12961358	0.24663	T	.	.	.	.	.	.	.	0.440394187108	0.43661	0.14706006454263518	0.14628	.	.	0.537433862686	0.44083	T	.	.	.	-0.15266	0.27897	T	-0.457062	0.26919	T	.	.	.	0.689231	0.29860	T	0.07756914	0.17613	0.26610738	0.52452	0.07756914	0.17613	0.26610738	0.52451	-4.607	0.32756	T	.	.	0.062	0.01960	B	.;.;.;.	.;.;.;.	1.021621	0.14010	10.58	0.76530421679010729	0.11505	0.04288	0.09831	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999859233276947	0.44174	0.256867	0.04430	0	0.271743	0.05004	0	0.121787	0.03316	0	0.221052	0.04502	0	0.142889	0.26897	3.67	2.49	0.29274	1.033000	0.29798	0.724000	0.21035	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.8745:0.0:0.1255:0.0	5.830	0.17833	982	0.03397	.;.;DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2713.33	44	chr8	142665202	.	A	G	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.82;DP=1839;ExcessHet=0;FS=0.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.995;SOR=0.762	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	18	0	1	0
chr8	142915200	142915200	A	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon3:c.T441A:p.D147E	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1620605	not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.0630270715306	0.0003	.	0.0002	0.0002	8.886e-05	0.0004	0	0.0003	0	0	0.0001617	25	154602	rs151052374	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.634e-05	0.0001	0.0001	0	4.472e-05	0	0.0002	0	0.0002	0.0001	0.0002	0	8.541e-05	9.849e-05	0.0001	4.035e-05	0.0002	4.956e-05	3.962e-05	0.0001	7.894e-05	0	0	6.542e-05	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.481093	0.12165	N	0.718995	0.999786	0.20372	N	0.12	0.08593	N	-0.26	0.67187	T	0.04	0.06488	N	0.079	0.05414	-0.9680	0.37612	T	0.080	0.31705	T	10	0.08213401	0.13521	T	0.063027	0.68837	D	0.042	0.11227	0.326	0.30873	0.426202426774	0.42236	0.7095911096184534	0.70901	0.214460058874	0.23979	0.391878724098	0.23935	T	0.071388	0.34196	T	-0.508223	0.00514	T	-0.675655	0.07250	T	0.0354059801997672	0.02877	T	0.111589	0.00840	T	0.11517606	0.27181	0.05572676	0.09829	0.11517606	0.27181	0.05572676	0.09828	-2.824	0.08406	T	.	.	0.137	0.29995	B	.	.	-1.543262	0.00270	0.004	0.63487900630574723	0.07237	0.02707	0.07358	N	AEFDGBI	0.045234	0.07374	N	-1.68799321184463	0.00885	0.03831435	-1.73949454543748	0.00973	0.04360895	0.00461423512186547	0.10641	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.44	-4.76	0.02994	-0.328000	0.07988	-6.675000	0.01335	-0.129000	0.13216	0.033000	0.20612	0.000000	0.08366	0.305000	0.24618	0.4374:0.2602:0.171:0.1314	1.579	0.02471	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	40	chr8	142915200	.	A	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.6;DP=796;ExcessHet=0;FS=12.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.42;MQRankSum=-8.988;QD=10.65;ReadPosRankSum=-0.567;SOR=2.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr8	143081057	143081057	G	A	exonic	LY6L	.	nonsynonymous SNV	LY6L:NM_001368160:exon1:c.G4A:p.E2K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00683729284553	.	.	0.0004	0	0	0	.	0	0	0.0005	2.59e-05	4	154602	rs775221239	1.882e-05	1.779e-05	8.569e-06	2.934e-05	0.0003	1.309e-05	1.112e-05	0.0002	0.0002	3.172e-05	0	0	0	0	0	9.279e-07	1.731e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.533	0.06957	T	0.353	0.17320	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.05604	N	0.13	0.12484	.	.	.	.	.	.	.	0.029921114	0.01118	T	0.006837	0.18093	T	.	.	.	.	0.0986583533028	0.09354	0.39266138268402034	0.39181	.	.	.	.	.	0.001868	0.01280	T	-0.523609	0.00419	T	-0.644967	0.09311	T	.	.	.	.	.	.	0.027388776	0.01923	0.059637047	0.11227	0.027388776	0.01923	0.059637047	0.11227	-3.573	0.17467	T	.	.	0.183	0.39765	B	.	.	0.389167	0.07609	4.269	0.7005834438336429	0.09172	0.01437	0.04829	N	AEFDBI	0.024863	0.01609	N	.	.	.	.	.	.	0.774941734603237	0.23736	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	2.17	0.216	0.14533	0.513000	0.22476	.	.	-0.227000	0.07798	0.057000	0.21666	0.035000	0.21413	0.007000	0.07825	0.1514:0.2547:0.5939:0.0	4.755	0.12454	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2309.81	33	chr8	143081057	.	G	A	2309.81	.	AC=2;AF=0.053;AN=38;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.8;SOR=1.402	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1475	18	1	0	0
chr8	143296448	143296448	C	G	exonic	ZNF696	.	nonsynonymous SNV	ZNF696:NM_030895:exon3:c.C773G:p.T258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00263570390052	.	.	9.874e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs774068714	1.375e-06	1.368e-06	0	2.762e-06	3e-05	2.3e-07	9e-08	.	.	3e-05	0	0	0	0	0	0	1.661e-05	0	6.635e-06	6.594e-06	1.297e-05	0	2.445e-05	0	0	.	.	2.445e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.015	0.61642	D	0.077	0.24313	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0.39	0.12200	N	5.29	0.01100	T	-2.02	0.46503	N	0.052	0.02366	-0.9337	0.43590	T	0.003	0.00961	T	8	0.06932706	0.09930	T	0.002636	0.05349	T	0.021	0.04004	0.438	0.49157	0.0846915920261	0.08053	0.04815414018026229	0.04758	0.409923173613	0.41795	0.591630935669	0.51724	T	0.035734	0.23835	T	-0.538005	0.00344	T	-0.82468	0.01360	T	0.0528676968617928	0.05998	T	0.352565	0.07917	T	0.076615125	0.17338	0.076339066	0.16897	0.076615125	0.17337	0.076339066	0.16897	-4.479	0.30613	T	.	.	0.282	0.51454	B	.	.	-0.055074	0.03916	0.865	0.74990961386661703	0.10904	0.01605	0.05203	N	AEFGBI	.	.	.	-1.63839908117963	0.01085	0.04708644	-1.77335484739583	0.00848	0.03790854	0.999991793531597	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.09	-6.05	0.01988	-4.419000	0.00271	.	.	-0.198000	0.09030	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.6994:0.0:0.3006	11.996	0.52497	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2754.33	36	chr8	143296448	.	C	G	2754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=1130;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.286;SOR=0.606	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr8	143316087	143316087	C	G	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_001258447:exon11:c.G1076C:p.R359P,TOP1MT:NM_052963:exon11:c.G1370C:p.R457P,TOP1MT:NM_001258446:exon12:c.G1076C:p.R359P	.	406	1106	10	0	0	10	0.00450045	.	.	.	1611284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	0.0004	0.00319489	0.0016	9.615e-05	0.0003	0	0	0.0003	0.0033	0.0102	0.0014489	224	154602	rs150897789	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0093	0.0091	5.974e-05	0.0006	0.0021	2.519e-05	0	0.0021	0.0002	0.0013	0.0099	0.0005	0.0005	0.0004	0.0007	0.0072	0.0004	0.0004	0.0054	0.0047	7.217e-05	0	0.0011	0.0023	0	0	0.0034	0.0002	0.0014	0.0072	0.012	0.55530	D	0.049	0.48336	D	0.889	0.48869	P	0.653	0.52567	P	0.401199	0.13122	U	0.608494	1	0.81001	D	3.385	0.91502	M	0.93	0.44065	T	-6.1	0.89985	D	0.89	0.88909	-0.3712	0.72925	T	0.337	0.70387	T	10	0.017056614	0.00362	T	.	.	.	0.335	0.65718	.	.	0.733702516443	0.73132	0.6778310830040013	0.67722	0.635647164281	0.57374	0.585601270199	0.50876	T	0.483612	0.81126	T	-0.142019	0.29569	T	0.031	0.72337	D	0.130374326807722	0.15416	T	0.985601	0.95079	D	0.8519174	0.87478	0.78569627	0.87379	0.8519174	0.87479	0.78569627	0.87380	-14.942	0.95715	D	.	.	0.822	0.83607	P	.;.;.;.	.;.;.;.	5.975238	0.94234	34	0.99664517897568616	0.78138	0.84933	0.44029	D	AEFDGBI	0.819238	0.74031	D	0.445762233873292	0.63963	4.640596	0.27199433599869	0.53909	3.557864	0.994102339786536	0.33489	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.23	2.31	0.27816	3.729000	0.54724	.	.	0.542000	0.25261	0.997000	0.40164	0.001000	0.17328	0.995000	0.73285	0.0:0.8141:0.1859:0.0	11.346	0.48798	976	0.04745	DNA topoisomerase I, catalytic core, eukaryotic-type|DNA topoisomerase I, eukaryotic-type|DNA topoisomerase I, catalytic core, eukaryotic-type;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	2934.33	38	chr8	143316087	.	C	G	2934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=968;ExcessHet=0;FS=2.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.111;SOR=0.547	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr8	143429410	143429410	G	A	exonic	MAFA	.	nonsynonymous SNV	MAFA:NM_201589:exon1:c.C997T:p.R333W	.	404	1116	2	0	0	2	0.000895255	.	.	.	3281315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.994467419039	.	.	0.0001	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs770823921	4.003e-05	4.036e-05	2.933e-05	5.098e-05	0.0011	3.136e-05	2.809e-05	0.0004	0.0003	0	0	0	0	0	0.0011	3.283e-05	0.0001	7.988e-05	2.633e-05	2.627e-05	5.146e-05	0	5.889e-05	8.15e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.889e-05	0	0	0.015	0.52492	D	0.018	0.59732	D	0.999	0.77913	D	0.825	0.59331	P	.	.	.	.	0.527121	0.31521	N	0	0.06538	N	-4.94	0.98409	D	-2.56	0.55339	D	0.286	0.32370	0.710	0.93302	D	0.852	0.95053	D	9	0.45649248	0.59021	T	0.994467	0.99985	D	0.482	0.77206	.	.	0.792822855232	0.79089	0.4822512573161031	0.48145	.	.	0.916947484016	0.98082	D	0.306053	0.67827	T	-0.0481139	0.44733	T	-0.0472096	0.67214	D	0.373582102864768	0.27935	T	0.713029	0.32487	T	0.16661957	0.37008	0.19953299	0.43840	0.16661957	0.37007	0.19953299	0.43839	-7.653	0.58680	D	0.1638739782874688	0.20218	0.577	0.67923	P	.	.	4.707551	0.75589	26.4	0.99843877135608605	0.92403	0.65849	0.32876	D	AEFDBHCI	0.246100	0.36691	N	-0.00415842696732402	0.41667	2.496389	-0.029296006734764	0.38397	2.261673	0.999959592732246	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	2.95	1.85	0.24418	0.686000	0.25072	.	.	0.482000	0.22156	0.667000	0.28322	1.000000	0.68203	0.984000	0.60418	0.0:0.1638:0.5782:0.258	5.726	0.17282	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	883.33	35	chr8	143429410	.	G	A	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=691;ExcessHet=0;FS=12.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.397;SOR=2.152	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	18	0	1	0
chr8	143440242	143440242	C	A	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon11:c.G2614T:p.A872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0262142191248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761197045	0	1.371e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.6e-06	6.58e-06	0	1.352e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	1.0	0.00964	T	0.934	0.02742	T	0.028	0.19712	B	0.009	0.14300	B	0.882257	0.07243	N	1.078680	1	0.08975	N	0.44	0.12706	N	0.9	0.45248	T	0.18	0.05035	N	0.152	0.15609	-1.0207	0.23486	T	0.041	0.17827	T	10	0.03781569	0.02160	T	0.026214	0.49143	D	0.020	0.03691	0.257	0.19845	0.043077524339	0.03247	0.21976063298064152	0.21892	.	.	0.419420838356	0.27756	T	0.002516	0.01904	T	-0.291641	0.09471	T	-0.656698	0.08491	T	0.040813469122686	0.03838	T	0.181682	0.01835	T	0.041231535	0.06034	0.039490134	0.04053	0.041231535	0.06033	0.039490134	0.04052	-1.595	0.01970	T	.	.	0.076	0.06159	B	.	.	-0.498449	0.01872	0.153	0.59998095689122222	0.06357	0.02374	0.06752	N	AEFDBHCI	0.043703	0.06942	N	-1.32031452520979	0.03443	0.153814	-1.32794000532051	0.04073	0.1913474	0.371190745066474	0.19872	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.58	-1.22	0.09005	0.127000	0.15617	.	.	0.545000	0.25583	0.000000	0.06391	0.002000	0.18203	0.009000	0.08673	0.3736:0.276:0.2669:0.0836	2.963	0.05539	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	717.33	37	chr8	143440242	.	C	A	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.928;DP=684;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.03;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1187:.	18	0	1	0
chr8	143475412	143475412	G	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon5:c.C1889A:p.P630H	.	413	1101	8	0	0	8	0.00361991	.	.	.	2337609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00560903998931	0.0003	0.000599042	0.0003	0	0.0003	0	0	0.0001	0	0.0013	0.0002652	41	154602	rs149988955	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0009	0.0009	0	0.0004	0.0003	0	0	0.0014	5.127e-05	0.0004	0.0011	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.717e-05	0.0004	0.0003	0	0	6.535e-05	0	0	0	0.0034	0.0002	0	0.0010	0.01	0.56456	D	0.205	0.27145	T	0.006	0.13644	B	0.002	0.06944	B	0.855061	0.07082	U	1.933180	1	0.08975	N	1.265	0.31966	L	4.15	0.02815	T	-0.96	0.25551	N	0.068	0.04072	-0.9469	0.41498	T	0.009	0.03271	T	10	0.0066946745	0.00152	T	0.005609	0.14500	T	0.069	0.20116	.	.	0.043077524339	0.03247	0.4650455753762667	0.46423	.	.	0.377470850945	0.21896	T	0.005946	0.05392	T	-0.632281	0.00093	T	-0.721538	0.04722	T	0.0206447818091319	0.00764	T	0.50475	0.15921	T	0.07939326	0.18135	0.06943873	0.14631	0.07939326	0.18135	0.06943873	0.14631	-6.222	0.48101	T	.	.	0.126	0.26545	B	.	.	1.034095	0.14145	10.72	0.76474982598607943	0.11482	0.04115	0.09588	N	AEFGBI	0.051553	0.09119	N	-0.762031401253787	0.14308	0.7116981	-0.776873965959229	0.15063	0.7903104	0.967869339470747	0.29009	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.97	2.93	0.33092	-0.193000	0.09572	.	.	0.672000	0.70159	0.000000	0.06391	0.044000	0.21668	0.032000	0.13371	0.0918:0.1243:0.6036:0.1803	4.641	0.11933	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	998.33	34	chr8	143475412	.	G	T	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=738;ExcessHet=0;FS=8.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.05;SOR=0.335	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	18	0	1	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N	.	393	1085	41	3	0	47	0.0211998	.	.	.	1671780	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.019022	0.008772	0.000000	0.000000	0.015244	0.015152	0.1316	4663.35	42	chr8	143538164	.	C	G	4663.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.343;DP=874;ExcessHet=0.0506;FS=0.931;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.338;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,35:78:99:.:.:724,0,1192:.	15	1	3	0
chr8	143580081	143580081	C	A	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130056:exon6:c.G666T:p.Q222H,EEF1D:NM_001317743:exon6:c.G666T:p.Q222H,EEF1D:NM_001330646:exon6:c.G666T:p.Q222H,EEF1D:NM_001130057:exon7:c.G738T:p.Q246H,EEF1D:NM_001195203:exon7:c.G681T:p.Q227H,EEF1D:NM_001289950:exon7:c.G738T:p.Q246H,EEF1D:NM_001960:exon7:c.G738T:p.Q246H,EEF1D:NM_001130055:exon8:c.G738T:p.Q246H,EEF1D:NM_001130053:exon9:c.G1836T:p.Q612H,EEF1D:NM_032378:exon9:c.G1836T:p.Q612H	.	397	1124	1	0	0	1	0.000444642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0283381813506	0.0002	0.000399361	0.0004	0	8.651e-05	0	0	6.02e-05	0.0011	0.0026	0.0003493	54	154602	rs138717476	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0001	0	0	0	0.0014	3.148e-05	0.0002	0.0030	0.0001	0.0001	8.991e-05	0.0002	0.0023	8.16e-05	6.718e-05	0.0013	0.0010	0	0	6.532e-05	0	0	0	0	0.0001	0	0.0023	0.005	0.72154	D	0.356	0.54541	T	0.412	0.40170	B	0.114	0.52639	B	0.013719	0.28756	N	0.399370	0.966686	0.38546	D	1.73	0.44655	L	.	.	.	-2.31	0.59873	N	0.573	0.62611	-0.8139	0.54312	T	0.216	0.57758	T	9	0.029436648	0.01071	T	0.028338	0.51029	D	0.336	0.65816	0.637	0.77361	0.78224452757	0.78023	0.5112006433386628	0.51042	0.414904228319	0.42158	0.612851560116	0.54719	T	0.166982	0.55344	T	-0.184987	0.22997	T	-0.0428011	0.67512	D	0.0785498514279644	0.09801	T	0.809719	0.99067	T	0.1692431	0.37430	0.17046137	0.39156	0.1692431	0.37429	0.17046137	0.39156	-9.521	0.72120	D	.	.	0.397	0.80477	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.863911	0.56056	23.7	0.99515134399009131	0.68858	0.87592	0.47182	D	AEFGBCI	0.405822	0.47856	N	-0.108049816393048	0.37041	2.149442	-0.079283567447405	0.36247	2.107069	0.999963954427589	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.85	3.03	0.34070	1.143000	0.31164	.	.	-0.262000	0.06890	1.000000	0.71638	0.999000	0.35428	0.869000	0.41347	0.0:0.7793:0.1424:0.0782	9.610	0.38824	952	0.10565	Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;.;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;.;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain|Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain;Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2594.33	37	chr8	143580081	.	C	A	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=863;ExcessHet=0;FS=4.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=2.53;SOR=0.689	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1397	18	0	1	0
chr8	143589199	143589199	C	T	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.G883A:p.D295N,EEF1D:NM_032378:exon3:c.G883A:p.D295N	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.022614074717	0.0002	0.00159744	0.0013	0	0	0	0.0014	9.893e-05	0	0.0082	0.0008279	128	154602	rs138059210	0.0005	0.0005	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	9.069e-05	0.0001	0.0019	5.117e-05	0.0009	0.0012	6.551e-05	0.0005	0.0054	0.0004	0.0004	0.0002	0.0006	0.0041	0.0003	0.0003	0.0027	0.0023	0	0	0.0005	0.0026	0	0.0014	0	5.881e-05	0.0019	0.0041	0.288	0.25255	T	0.945	0.06812	T	0.001	0.13644	B	0.002	0.06944	B	0.151119	0.17965	N	0.451395	0.852102	0.35240	D	.	.	.	.	.	.	-0.23	0.27052	N	0.256	0.28965	-0.9683	0.37551	T	0.128	0.43524	T	9	0.004842669	0.00103	T	0.022614	0.45526	T	0.022	0.04323	.	.	0.319402600006	0.31557	0.24239951131556262	0.24153	0.119526378523	0.13456	0.606565833092	0.53831	T	0.008644	0.07927	T	-0.57804	0.00198	T	-0.600756	0.12748	T	0.0112209062801464	0.00165	T	0.747925	0.36851	T	.	.	.	.	.	.	.	.	-4.609	0.32285	T	.	.	0.092	0.18497	B	.;.;.;.;.	.;.;.;.;.	0.929945	0.13050	9.555	0.97342527353438613	0.33481	0.25651	0.22762	N	AEFDBCI	0.087767	0.17795	N	-1.00398900812372	0.08520	0.3998209	-1.02301737752434	0.09279	0.4607924	0.999805249155404	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.5	2.68	0.30839	1.583000	0.36188	.	.	-0.171000	0.11205	0.035000	0.20724	0.000000	0.08366	0.002000	0.04165	0.0:0.7085:0.0:0.2915	6.879	0.23344	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001012	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1630.33	56	chr8	143589199	.	C	T	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=1608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.129;SOR=0.668	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	0	1	0
chr8	143589973	143589973	C	A	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.G109T:p.A37S,EEF1D:NM_032378:exon3:c.G109T:p.A37S	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0186231166524	0.0014	.	0.0017	0.0004	0.0036	0	0	0.0023	0.0040	0	0.0015071	233	154602	rs144264495	0.0019	0.0019	0.0020	0.0019	0.0024	0.0019	0.0019	0.0022	0.0022	0.0003	0.0024	0.0009	0	0.0004	0.0003	0.0023	0.0015	0	0.0013	0.0013	0.0013	0.0013	0.0020	0.0011	0.0011	0.0017	0.0016	0.0005	0	0.0020	0.0012	0	0.0003	0	0.0019	0.0028	0	0.002	0.72154	D	0.127	0.92824	T	0.325	0.38362	B	0.274	0.40037	B	0.526247	0.11687	N	0.721310	0.999981	0.54805	D	.	.	.	.	.	.	-0.34	0.58248	N	0.222	0.25006	-1.0407	0.17101	T	0.119	0.41799	T	9	0.0062532127	0.00141	T	0.018623	0.40743	T	0.042	0.11227	.	.	0.423954403188	0.42011	0.1540466887093189	0.15326	0.125980353182	0.14199	0.364943385124	0.20103	T	0.004489	0.22872	T	-0.427327	0.01539	T	-0.391218	0.34408	T	0.00972581156821116	0.00127	T	0.758424	0.38228	T	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	0.097	0.15698	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.202390	0.05869	2.310	0.95521825032235619	0.27141	0.73140	0.35781	D	AEFBCI	0.119022	0.23248	N	-0.72874650796534	0.15217	0.7649619	-0.739152644071953	0.15989	0.843687	0.999792835234263	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.31	1.52	0.22158	0.023000	0.13424	.	.	-0.200000	0.08971	0.085000	0.22462	0.000000	0.08366	0.111000	0.18785	0.0:0.7112:0.0:0.2888	9.374	0.37437	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1689.33	36	chr8	143589973	.	C	A	1689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=845;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-0.624;SOR=0.923	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr8	143599579	143599579	C	G	exonic	TIGD5	.	nonsynonymous SNV	TIGD5:NM_032862:exon1:c.C1676G:p.P559R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0100468860634	.	.	0	0	0	0	0	0	0	0	.	.	.	rs758152433	5.809e-06	1.368e-05	1.431e-06	1.032e-05	9.426e-05	2.5e-06	1.81e-06	4.407e-05	3.11e-05	0	0	0	0	0	0	0	1.765e-05	9.426e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.11732	T	0.039	0.51112	D	.	.	.	.	.	.	0.210386	0.16380	U	0.489628	1	0.08975	N	0.805	0.20218	L	1.56	0.29602	T	-0.51	0.15986	N	0.165	0.17416	-0.9996	0.30030	T	0.035	0.15204	T	10	0.10010773	0.18209	T	0.010047	0.26124	T	0.022	0.04323	.	.	0.231873229951	0.22792	0.21414728391270785	0.21330	1.09635788658	0.77590	0.474352657795	0.35280	T	0.007552	0.06949	T	-0.286394	0.10000	T	-0.649161	0.09013	T	0.204547852277756	0.20664	T	0.40126	0.10220	T	0.022174032	0.00863	0.03883857	0.03840	0.022174032	0.00862	0.03883857	0.03840	-5.331	0.40249	T	.	.	0.079	0.07318	B	.	.	0.133157	0.05285	1.780	0.93184819513537132	0.22846	0.18539	0.20302	N	AEFDGBCI	.	.	.	-0.819961125696627	0.12800	0.626327	-0.943500841244048	0.11074	0.5619561	0.999996933333528	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.64067	0.45733	0	0.375	0.06713	1	.	.	4.55	-0.336	0.12030	-0.276000	0.08546	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.5843:0.0:0.4157	7.789	0.28272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	729.33	39	chr8	143599579	.	C	G	729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=741;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.55;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr8	143616135	143616135	G	A	exonic	GFUS	.	nonsynonymous SNV	GFUS:NM_001317783:exon3:c.C250T:p.R84W,GFUS:NM_003313:exon3:c.C232T:p.R78W	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	.	7.7e-05	0.00299521	0.0017	0.0005	8.654e-05	0.0012	0	0	0.0023	0.0125	0.0014748	228	154602	rs143026820	0.0009	0.0009	0.0005	0.0012	0.0124	0.0008	0.0008	0.0118	0.0115	0.0003	0	0	0.0025	1.879e-05	0.0010	7.217e-06	0.0009	0.0124	0.0005	0.0005	0.0004	0.0007	0.0122	0.0004	0.0004	0.0097	0.0088	0.0005	0	0	0	0.0010	0	0	0	0	0.0122	0.189	0.22053	T	0.038	0.51421	D	0.985	0.61118	D	0.791	0.57754	P	0.055700	0.22622	N	0.409624	0.997383	0.43845	D	1.385	0.34509	L	-3.38	0.94161	D	-3.6	0.74582	D	0.736	0.73645	0.862	0.95172	D	0.856	0.95217	D	10	0.017109007	0.00363	T	.	.	.	0.729	0.90501	.	.	0.964294476117	0.96391	0.8226608458890969	0.82223	0.476634509466	0.46789	0.491338372231	0.37623	T	0.57785	0.86129	D	-0.088785	0.38277	T	0.110078	0.77577	D	0.0783009760993507	0.09768	T	0.994547	0.98194	D	0.540731	0.69437	0.33400065	0.59231	0.540731	0.69438	0.33400065	0.59230	-9.124	0.68491	D	.	.	0.427	0.61020	A	.;.;.;.;.;.	.;.;.;.;.;.	5.916545	0.94052	33	0.99918285762901404	0.98586	0.89747	0.50413	D	AEFGBHCI	0.817393	0.73889	D	0.628715710085019	0.74999	6.228899	0.58685663184678	0.73996	6.062731	0.999999995194758	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.75	4.75	0.59954	4.319000	0.58987	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8071:0.1929	10.551	0.44276	958	0.09170	NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	777.33	35	chr8	143616135	.	G	A	777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.797;DP=692;ExcessHet=0;FS=3.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.156;SOR=1.343	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	18	0	1	0
chr8	143650149	143650149	A	G	exonic	ZNF623	.	nonsynonymous SNV	ZNF623:NM_014789:exon1:c.A277G:p.T93A,ZNF623:NM_001082480:exon2:c.A157G:p.T53A,ZNF623:NM_001261843:exon2:c.A157G:p.T53A	.	414	1089	18	1	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0057502112798	0.0020	0.00159744	0.0036	0.0005	0.0012	0	0.0062	0.0039	0.0011	0.0067	0.0034928	540	154602	rs141901810	0.0048	0.0048	0.0047	0.0049	0.0092	0.0047	0.0047	0.0072	0.0070	0.0006	0.0017	0.0002	2.519e-05	0.0044	0.0092	0.0051	0.0042	0.0077	0.0028	0.0028	0.0028	0.0028	0.0043	0.0026	0.0025	0.0039	0.0038	0.0005	0.0011	0.0024	0.0003	0	0.0046	0	0.0043	0.0019	0.0043	0.062	0.37966	T	0.026	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.994708	0.23461	N	.	.	.	2.47	0.14783	T	-0.44	0.15178	N	0.044	0.02559	-0.9976	0.30590	T	0.032	0.13592	T	9	0.003913492	0.00075	T	0.00575	0.14922	T	0.080	0.23350	.	.	0.332646915603	0.32870	0.048393935203371874	0.04782	0.274352490652	0.29928	0.275649279356	0.06894	T	0.009832	0.08919	T	-0.687114	0.00044	T	-0.755623	0.03272	T	0.00154676861957796	0.00016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.;.;.	.;.;.	0.394799	0.07661	4.332	0.94362907156118903	0.24721	0.03267	0.08303	N	AEFBCI	0.117611	0.23033	N	-0.770492492523635	0.14084	0.698707	-0.804064001623287	0.14397	0.7520479	0.0636998290362513	0.15304	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.35	-1.26	0.08892	0.167000	0.16419	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.452000	0.27939	0.6286:0.1525:0.2189:0.0	5.246	0.14813	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.021341	0.015152	0.02632	1752.33	35	chr8	143650149	.	A	G	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=1284;ExcessHet=0;FS=6.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.572;SOR=1.139	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr8	143693902	143693902	G	T	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.G380T:p.R127L,ZNF707:NM_001288809:exon4:c.G380T:p.R127L,ZNF707:NM_001100599:exon5:c.G488T:p.R163L,ZNF707:NM_001100598:exon6:c.G488T:p.R163L,ZNF707:NM_001288806:exon6:c.G488T:p.R163L,ZNF707:NM_001288807:exon6:c.G269T:p.R90L,ZNF707:NM_173831:exon7:c.G488T:p.R163L,ZNF707:NM_001288805:exon8:c.G488T:p.R163L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00265009182441	.	0.000199681	0.0008	0	0	0	0	0	0	0.0052	0.0005627	87	154602	.	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	6.004e-05	0	0	2.53e-05	0	0	3.614e-06	0.0004	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.679	0.06128	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.295	0.00719	N	3.5	0.19588	T	3.12	0.00186	N	0.085	0.06190	-0.9846	0.33927	T	0.021	0.08963	T	8	0.0042155385	0.00084	T	0.00265	0.05406	T	0.057	0.16321	0.457	0.52265	0.0551355673512	0.04727	0.13791814954313353	0.13715	0.281793151328	0.30648	0.337628334761	0.16083	T	0.004667	0.04082	T	-0.548843	0.00296	T	-0.559233	0.16448	T	0.0165222542936939	0.00415	T	.	.	.	0.054127328	0.10343	0.05798384	0.10636	0.054127328	0.10343	0.05798384	0.10635	-2.589	0.06420	T	.	.	0.116	0.32275	B	.;.;.;.;.	.;.;.;.;.	-0.250374	0.02843	0.398	0.75353343464222455	0.11042	0.00233	0.01302	N	AEFDBI	0.044081	0.07050	N	-1.6948730732895	0.00860	0.03721321	-1.79964727606577	0.00760	0.03389893	0.978711146501501	0.29951	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	1.93	-3.87	0.03939	-0.183000	0.09707	.	.	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1894:0.1519:0.4019:0.2568	1.073	0.01525	917	0.20147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	2226.33	147	chr8	143693902	.	G	T	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=2124;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.04;SOR=0.498	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	18	0	1	0
chr8	143694046	143694046	A	G	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.A524G:p.Q175R,ZNF707:NM_001288809:exon4:c.A524G:p.Q175R,ZNF707:NM_001100599:exon5:c.A632G:p.Q211R,ZNF707:NM_001100598:exon6:c.A632G:p.Q211R,ZNF707:NM_001288806:exon6:c.A632G:p.Q211R,ZNF707:NM_001288807:exon6:c.A413G:p.Q138R,ZNF707:NM_173831:exon7:c.A632G:p.Q211R,ZNF707:NM_001288805:exon8:c.A632G:p.Q211R	.	428	1092	2	0	0	2	0.000914913	.	.	.	3949038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00804057607089	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0006	0.0001035	16	154602	rs537824762	9.001e-05	9.029e-05	6.287e-05	0.0001	0.0007	7.723e-05	7.265e-05	0.0006	0.0005	0	2.254e-05	0.0003	0	0	0.0002	4.955e-05	6.648e-05	0.0007	9.191e-05	9.186e-05	7.71e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	0.0002	0	0.0006	0.267	0.16198	T	0.122	0.35710	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999689	0.20694	N	-0.255	0.03828	N	2.33	0.16492	T	0.56	0.02680	N	0.052	0.02366	-0.9549	0.40114	T	0.016	0.06377	T	8	0.012540013	0.00269	T	0.008041	0.21316	T	0.046	0.12618	0.522	0.62518	0.0666544352282	0.05500	0.04254013010267436	0.04199	0.244761738464	0.26983	0.445693492889	0.31356	T	0.04327	0.26449	T	-0.611511	0.00124	T	-0.754259	0.03323	T	0.012332504316074	0.00200	T	.	.	.	0.020925686	0.00670	0.08418071	0.19346	0.020925686	0.00669	0.08418071	0.19346	-1.851	0.02665	T	.	.	0.173	0.38480	B	.;.;.;.	.;.;.;.	0.004756	0.04313	1.091	0.93009627171845355	0.22602	0.10638	0.16088	N	AEFDGBI	0.101933	0.20462	N	-1.06485441927053	0.07299	0.338658	-1.04511022468038	0.08808	0.4349597	0.982489936630028	0.30405	0.718356	0.82227	0	0.552637	0.17590	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.92	-1.96	0.07113	0.069000	0.14419	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.481000	0.28588	0.5889:0.1793:0.2318:0.0	4.042	0.09240	917	0.20147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	72	chr8	143694046	.	A	G	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.422;DP=1283;ExcessHet=0;FS=4.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.296;SOR=1.143	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr8	143707077	143707077	C	T	exonic	CCDC166	.	nonsynonymous SNV	CCDC166:NM_001162914:exon2:c.G937A:p.V313M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.000199681	0.0039	0	0	0	0	0.0126	0	0.0011	0.0005045	78	154602	rs550230095	0.0013	0.0012	0.0013	0.0013	0.0027	0.0013	0.0012	0.0017	0.0013	6.395e-05	0.0014	0.0169	0	0.0002	0.0027	0.0010	0.0026	0.0007	0.0013	0.0013	0.0013	0.0013	0.0019	0.0011	0.0011	0.0014	0.0012	0.0002	0	0.0019	0.0161	0	0	0.0137	0.0014	0.0010	0.0002	0.214	0.19361	T	0.026	0.55759	D	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	.	.	.	-0.32	0.12283	N	0.036	0.01068	-1.0347	0.18951	T	0.058	0.24242	T	8	0.002822101	0.00045	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.06476136050439223	0.06415	.	.	0.542966485023	0.44865	T	0.002885	0.02278	T	-0.616971	0.00115	T	-0.672242	0.07465	T	0.0257512569039736	0.01373	T	0.439156	0.12095	T	0.029703448	0.02508	0.053213052	0.08918	0.029703448	0.02508	0.053213052	0.08918	-4.93	0.36071	T	.	.	0.104	0.19032	B	.	.	0.224233	0.06063	2.505	0.96856708232205846	0.31365	0.03870	0.09234	N	AEFDBCI	0.041409	0.06292	N	-1.28544525554201	0.03850	0.172726	-1.34125014427368	0.03910	0.1833591	0.984836030559956	0.30783	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.03	-1.85	0.07363	-0.255000	0.08789	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4315:0.1571:0.4114	6.609	0.21936	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004399	0.000000	0.000000	0.014563	0.000000	0.000000	0.000000	0.000000	0.07895	4718.77	34	chr8	143707077	.	C	T	4718.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=807;ExcessHet=0;FS=0.706;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.08;ReadPosRankSum=0.323;SOR=0.809	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1170	17	1	1	0
chr8	143719060	143719060	T	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon6:c.T485A:p.L162Q	.	386	1134	1	1	0	3	0.001321	.	.	.	3285092	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.443	0.202821446909	0.0006	0.000399361	0.0009	0	0	0	0.0022	0.0014	0.0024	0	0.0005692	88	154602	rs139710965	0.0008	0.0008	0.0008	0.0008	0.0009	0.0008	0.0007	0.0008	0.0008	0.0002	0.0002	3.896e-05	0	0.0026	0.0002	0.0009	0.0010	7.228e-05	0.0008	0.0008	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0006	0	0	0.0029	0	0.0010	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000045	0.53742	D	0.074127	0.999706	0.48408	D	2.045	0.56016	M	-0.34	0.68474	T	-4.74	0.83899	D	0.879	0.87699	-0.4209	0.71363	T	0.319	0.68839	T	10	0.15338698	0.28953	T	0.202821	0.86841	D	0.443	0.74588	.	.	0.811717376858	0.80994	0.7520554164053728	0.75152	0.175063454063	0.19705	0.615236878395	0.55055	T	0.105296	0.41564	T	-0.0918774	0.37764	T	0.0389002	0.72856	D	0.112745188176632	0.13706	T	0.970703	0.89491	D	0.36261567	0.58035	0.4587316	0.68553	0.36261567	0.58035	0.4587316	0.68553	-11.37	0.81648	D	.	.	0.146	0.47492	B	.;.;.	.;.;.	4.518107	0.70818	25.6	0.99450084868719602	0.65223	0.82134	0.41409	D	AEFDGBHCI	0.657170	0.62889	D	0.170687318376014	0.49794	3.176017	0.0644050738331425	0.42774	2.593119	1.0	0.98316	0.650006	0.45971	0	0.578056	0.33634	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.924000	0.48572	.	.	0.585000	0.30472	0.377000	0.25981	1.000000	0.68203	0.153000	0.20410	0.0:0.0:0.0:1.0	10.422	0.43540	895	0.25842	Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1765.33	71	chr8	143719060	.	T	A	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=1027;ExcessHet=0;FS=7.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.006;SOR=0.302	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr8	143721618	143721618	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon12:c.G1274A:p.G425E	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00579073	0.0029	0	0.0009	0.0359	0.0002	0.0002	0.0011	0.0009	0.002652	410	154602	rs35834318	0.0013	0.0013	0.0013	0.0013	0.0424	0.0013	0.0013	0.0407	0.0401	2.991e-05	0.0005	0	0.0424	9.387e-05	0	0.0001	0.0010	0.0006	0.0012	0.0012	0.0012	0.0012	0.0300	0.0011	0.0010	0.0262	0.0247	4.81e-05	0	0.0003	0	0.0300	0	0	0.0002	0.0005	0.0010	0.008	0.58626	D	0.199	0.27679	T	0.421	0.35387	B	0.08	0.28873	B	0.211321	0.16358	U	0.526148	1	0.08975	N	2.39	0.68882	M	-0.72	0.72994	T	-1.59	0.38345	N	0.258	0.29197	-1.0093	0.27136	T	0.061	0.25563	T	10	0.0038855672	0.00074	T	.	.	.	0.059	0.16972	.	.	0.763320079665	0.76116	0.3355714248060343	0.33470	0.117895126679	0.13276	0.464598178864	0.33940	T	0.047461	0.27729	T	-0.432221	0.01437	T	-0.368565	0.37056	T	0.0313423332943114	0.02201	T	.	.	.	0.07885048	0.17980	0.09070122	0.21285	0.07885048	0.17979	0.09070122	0.21284	-3.331	0.14139	T	.	.	0.090	0.12702	B	.	.	0.953288	0.13297	9.797	0.87106021395945676	0.16992	0.02893	0.07682	N	AEFBCI	0.041119	0.06210	N	-0.885150955377113	0.11195	0.5389489	-1.00606868652647	0.09651	0.4814028	0.999673207516022	0.41644	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.06	1.16	0.19936	-0.114000	0.10729	.	.	0.491000	0.22372	0.000000	0.06391	0.082000	0.22400	0.006000	0.07323	0.205:0.0:0.795:0.0	4.358	0.10623	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	94	chr8	143721618	.	G	A	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=1110;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.566;SOR=0.568	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,102,1530	18	0	1	0
chr8	143726160	143726160	T	C	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.A3301G:p.T1101A	Amelogenesis imperfecta, type III, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2204143	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.004659366878	.	.	5.588e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs782218389	5.823e-05	5.814e-05	5.726e-05	5.922e-05	7.197e-05	4.817e-05	4.438e-05	5.887e-05	5.453e-05	0	0	0	0	0	0	7.197e-05	3.316e-05	3.482e-05	3.943e-05	3.94e-05	2.57e-05	5.382e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.215	0.19293	T	0.753	0.04754	T	0.0	0.02946	B	0.001	0.04355	B	0.694222	0.10149	N	0.809804	0.999965	0.18878	N	-0.345	0.03330	N	2.52	0.14160	T	-1.27	0.31981	N	0.039	0.01274	-0.9308	0.44021	T	0.018	0.07659	T	10	0.022683978	0.00573	T	0.004659	0.11566	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.1698519390704436	0.16905	0.31902460924	0.34116	0.676550388336	0.63775	T	0.005558	0.05012	T	-0.500614	0.00567	T	-0.741539	0.03826	T	0.00942633387785414	0.00121	T	.	.	.	0.05125973	0.09387	0.057840783	0.10586	0.05125973	0.09386	0.057840783	0.10586	-2.152	0.03814	T	.	.	0.067	0.02488	B	.	.	0.426973	0.07975	4.688	0.71367510579355486	0.09605	0.11493	0.16670	N	AEFDGBCI	0.068753	0.13578	N	-1.05911863620291	0.07410	0.344131	-1.05880433533059	0.08524	0.419537	0.999899382889367	0.45129	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	-3.86	0.03951	0.274000	0.18443	.	.	-0.122000	0.13826	0.004000	0.16614	0.000000	0.08366	0.977000	0.56843	0.0:0.4346:0.1181:0.4473	7.971	0.29285	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	47	chr8	143726160	.	T	C	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=792;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-2.445;SOR=0.983	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,937	18	0	1	0
chr8	143804681	143804681	T	C	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon21:c.A2896G:p.T966A,SCRIB:NM_182706:exon21:c.A2896G:p.T966A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0668212289515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.113e-07	1.368e-06	1.4e-06	0	9.256e-07	0	0	.	.	0	0	0	0	0	0	9.256e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.03620	T	0.792	0.06490	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.36691	T	-0.9	0.24898	N	0.133	0.14905	-0.9943	0.31485	T	0.024	0.10013	T	9	0.04450193	0.03414	T	0.066821	0.69987	D	0.041	0.10877	0.206	0.12216	0.435492324924	0.43171	0.23464297615410426	0.23379	.	.	0.485579371452	0.36827	T	0.074328	0.34913	T	-0.279638	0.10706	T	-0.639457	0.09708	T	0.0128726213274694	0.00220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01290	B	.;.;.	.;.;.	-0.877474	0.00963	0.038	0.30042716140427006	0.01623	0.05463	0.11343	N	AEFDBCI	0.031065	0.03248	N	-1.68676311864494	0.00890	0.03850812	-1.74294535341214	0.00960	0.04299794	0.998897393274935	0.37915	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.05	-6.1	0.01956	-0.008000	0.12724	.	.	0.568000	0.28809	0.183000	0.24101	0.000000	0.08366	0.003000	0.05239	0.0:0.4631:0.128:0.4089	7.476	0.26547	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	34	chr8	143804681	.	T	C	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.072;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.582;SOR=0.76	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,100,1530	18	0	1	0
chr8	143805209	143805209	C	T	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon19:c.G2573A:p.R858H,SCRIB:NM_182706:exon19:c.G2573A:p.R858H	.	409	1112	1	0	0	1	0.000449438	.	.	.	4066371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.105540779593	.	.	5.132e-05	0.0004	0	0	0	4.593e-05	0	0	2.59e-05	4	154602	rs782812033	3.987e-05	4.378e-05	2.817e-05	5.181e-05	0.0005	3.149e-05	2.83e-05	0.0003	0.0003	0.0005	0	0	2.651e-05	0	0.0004	2.759e-05	8.629e-05	1.253e-05	3.288e-05	3.284e-05	3.856e-05	2.693e-05	7.244e-05	1.262e-05	7.99e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	2.942e-05	0	0	0.081	0.33418	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-1.12	0.30346	N	0.282	0.31925	-1.0547	0.13119	T	0.072	0.29387	T	9	0.08416322	0.14078	T	0.105541	0.78070	D	0.060	0.17295	.	.	0.327946701059	0.32395	0.4326433778827216	0.43181	.	.	0.745028674603	0.73713	T	0.093868	0.39300	T	-0.205814	0.19972	T	-0.533414	0.18946	T	0.113512103448357	0.13784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28290	B	.;.;.	.;.;.	3.469435	0.48398	22.6	0.98796895392580875	0.46381	0.23428	0.22073	N	AEFDBCI	0.126925	0.24406	N	-0.652726950202745	0.17381	0.8939003	-0.606257559786969	0.19332	1.036723	0.785884309296099	0.23928	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.18	4.18	0.48473	0.822000	0.27007	.	.	0.589000	0.31548	0.047000	0.21291	0.992000	0.31684	0.184000	0.21420	0.0:0.8862:0.0:0.1138	9.403	0.37610	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	37	chr8	143805209	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.336;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-2.019;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	18	0	1	0
chr8	143837136	143837136	C	T	exonic	NRBP2	.	nonsynonymous SNV	NRBP2:NM_178564:exon14:c.G1166A:p.R389Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0243432334788	.	.	7.483e-05	0	0	0.0003	0	0	0	0.0004	5.82e-05	9	154602	rs782468299	3.151e-05	3.147e-05	2.588e-05	3.719e-05	0.0004	2.415e-05	2.16e-05	0.0003	0.0003	0	0	0	7.568e-05	0	0	3.601e-06	3.317e-05	0.0004	1.314e-05	1.312e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.314	0.13834	T	0.653	0.06666	T	0.223	0.30377	B	0.011	0.15521	B	0.004866	0.33312	U	0.248861	0.682425	0.31233	N	1.665	0.42610	L	1.35	0.34648	T	-0.63	0.18459	N	0.618	0.63374	-0.7696	0.56879	T	0.174	0.51722	T	10	0.30552033	0.48068	T	0.024343	0.47327	T	0.090	0.26093	0.417	0.45709	0.311387274539	0.30754	0.5806826456019047	0.57997	0.227729106917	0.25330	0.489545345306	0.37375	T	0.003411	0.02819	T	-0.361073	0.04069	T	-0.426432	0.30340	T	0.13687483499534	0.16003	T	0.928807	0.73814	D	0.10912534	0.25800	0.11400024	0.27515	0.10912534	0.25800	0.11400024	0.27514	-4.709	0.33513	T	.	.	0.112	0.22024	B	.	.	4.419869	0.68443	25.2	0.99722316123185595	0.82125	0.85910	0.45099	D	AEFDBI	0.715825	0.66786	D	0.305345792483122	0.56422	3.806925	0.287438001507485	0.54804	3.64451	0.999999459189424	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.199000	0.77351	.	.	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	15.595	0.76314	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr8	143837136	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=728;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.779;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	18	0	1	0
chr8	143858247	143858247	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G15007A:p.G5003S	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781989415	0.0002	0.0005	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0.0001	0	0	2.526e-05	0	0.0006	0.0001	0.0003	0.0022	4.001e-05	7.227e-05	2.605e-05	5.467e-05	0.0002	1.736e-05	1.143e-05	1.179e-05	6.27e-06	2.468e-05	0	0	0	0	9.634e-05	0	4.441e-05	0	0.0002	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.997574	0.44002	D	.	.	.	.	.	.	.	.	.	0.202	0.22357	0.100	0.84169	D	0.531	0.82583	D	9	0.03469062	0.01687	T	0.035166	0.56165	D	.	.	.	.	0.599093849917	0.59590	0.5625232093572086	0.56179	.	.	0.458816915751	0.33148	T	.	.	.	-0.277927	0.10889	T	-0.178783	0.56635	T	0.333741370655056	0.26375	T	0.947205	0.79675	D	0.121298105	0.28527	0.16371429	0.37963	0.121298105	0.28527	0.16371429	0.37962	-11.577	0.82729	D	.	.	0.748	0.74947	P	.;.	.;.	3.585182	0.50567	23.0	0.99857698313710819	0.93639	0.97753	0.76883	D	AEFGBCI	.	.	.	0.76914793535542	0.84147	8.206939	0.708408127109433	0.83016	7.912752	0.999999999999674	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.06	5.06	0.67838	4.662000	0.61220	.	.	0.443000	0.21123	0.412000	0.26266	0.082000	0.22400	0.977000	0.56843	0.0:1.0:0.0:0.0	15.974	0.79840	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	438.83	40	chr8	143858247	.	C	T	438.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.063;DP=1169;ExcessHet=0.119;FS=16.708;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.52;MQRankSum=-1.199;QD=1.38;ReadPosRankSum=2.02;SOR=0.186	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	17	0	2	0
chr8	143859216	143859216	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G14038A:p.G4680S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339103457	6.461e-05	8.256e-05	7.465e-05	5.509e-05	0.0011	4.02e-05	3.29e-05	0.0005	0.0004	0.0011	0	0	0	0	0	4.309e-05	0.0001	0	0.0001	0.0003	0.0001	0.0002	0.0005	9.813e-05	8.317e-05	0.0003	0.0003	0.0005	0	6.587e-05	0	0	0	0	1.476e-05	0	0	.	.	.	0.681	0.06128	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.04426	.	.	.	.	.	.	.	0.036958247	0.02022	T	.	.	.	.	.	.	.	.	.	0.11324030430350611	0.11252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306769	0.05902	T	.	.	.	.	.	.	.	.	-6.833	0.52804	T	.	.	0.075	0.05317	B	.;.	.;.	-0.170149	0.03246	0.548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.712000	0.00070	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.64	8	chr8	143859216	.	C	T	92.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=215;ExcessHet=0;FS=0;InbreedingCoeff=-0.0427;MLEAC=1;MLEAF=0.026;MQ=43.57;MQRankSum=-3.588;QD=6.62;ReadPosRankSum=-1.471;SOR=0.693	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	18	0	1	0
chr8	143865287	143865287	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C7967T:p.P2656L	.	465	1053	4	0	0	4	0.00189573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181720222	0.0001	0.0002	7.947e-05	0.0001	0.0023	8.278e-05	7.194e-05	0.0015	0.0013	0	0.0001	0	0	0	0	4.818e-05	0	0.0023	0.0001	0.0001	3.772e-05	0.0002	0.0011	6.743e-05	5.226e-05	0.0004	0.0002	0.0002	0	0	0	0.0004	0.0002	0	1.872e-05	0.0007	0.0011	.	.	.	0.181	0.29346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.07949	.	.	.	.	.	.	.	0.030941844	0.01224	T	.	.	.	.	.	.	.	.	.	0.11839393492795118	0.11766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857914	0.54791	D	.	.	.	.	.	.	.	.	-8.667	0.65530	D	.	.	0.128	0.27343	B	.;.	.;.	-0.293692	0.02646	0.335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.712000	0.00013	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.529000	0.29684	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	149.61	9	chr8	143865287	.	G	A	149.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0443;MLEAC=1;MLEAF=0.026;MQ=41.26;MQRankSum=1.78;QD=5.98;ReadPosRankSum=0.426;SOR=0.892	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,365	18	0	1	0
chr8	143866614	143866614	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6640A:p.D2214N	.	.	.	.	.	.	.	.	.	.	.	3671235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0138054122266	.	.	0.0002	0	0	0	0	1.68e-05	0	0.0012	6.5e-06	1	154602	rs762120294	7.258e-05	7.251e-05	5.858e-05	8.671e-05	0.0008	6.12e-05	5.705e-05	0.0006	0.0006	2.987e-05	0	0	0.0002	0	0	2.428e-05	6.627e-05	0.0008	4.595e-05	4.593e-05	3.853e-05	5.37e-05	0.0002	2.107e-05	1.526e-05	4.88e-06	1.83e-06	2.405e-05	0	6.533e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0002	.	.	.	0.017	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.08	0.57402	M	.	.	.	.	.	.	0.054	0.02964	-0.9743	0.36279	T	0.179	0.52504	T	9	0.05122474	0.04971	T	0.013805	0.33474	T	.	.	0.291	0.25241	0.603433923166	0.60026	0.5302967302634154	0.52953	.	.	0.239207223058	0.02720	T	0.122529	0.44626	T	-0.304952	0.08201	T	-0.675819	0.07241	T	0.0965253561735153	0.11970	T	0.371963	0.08817	T	0.055531405	0.10804	0.056865603	0.10236	0.055531405	0.10804	0.056865603	0.10236	-7.0	0.54034	T	.	.	0.107	0.20235	B	.;.	.;.	2.018159	0.25648	16.84	0.97783511376761656	0.35951	0.44638	0.27362	N	AEFDGBHCI	0.173681	0.30078	N	-0.583990556502542	0.19431	1.016892	-0.70767883368075	0.16770	0.8886736	0.999999978733461	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.634913	0.45138	1	0.562822	0.20929	0	.	.	4.66	2.88	0.32617	2.141000	0.41792	.	.	-0.266000	0.06809	0.071000	0.22100	0.000000	0.08366	0.000000	0.00833	0.0:0.8174:0.0:0.1826	8.899	0.34641	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3008.33	34	chr8	143866614	.	C	T	3008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=933;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.81;MQRankSum=0.037;QD=18.8;ReadPosRankSum=0.945;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1270:.	18	0	1	0
chr8	143866916	143866916	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6338A:p.G2113E	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0174385144651	7.9e-05	.	4.155e-05	0	8.645e-05	0	0	4.519e-05	0	6.056e-05	3.88e-05	6	154602	rs370476982	5.682e-05	5.678e-05	4.495e-05	6.881e-05	0.0005	4.68e-05	4.304e-05	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	5.756e-05	9.94e-05	5.797e-05	5.256e-05	5.253e-05	3.854e-05	6.724e-05	8.818e-05	2.557e-05	1.83e-05	3.761e-05	2.574e-05	2.413e-05	0	6.542e-05	0	0	0	0	8.818e-05	0	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	0.977528	0.39375	D	2.63	0.76995	M	.	.	.	.	.	.	0.277	0.31365	-0.1742	0.78326	T	0.487	0.80491	T	9	0.279162	0.45488	T	0.017439	0.39139	T	.	.	.	.	0.607054019504	0.60390	0.5599932224476786	0.55926	.	.	0.515493273735	0.40993	T	0.438698	0.78426	T	0.0155995	0.53786	T	-0.0108183	0.69630	D	0.585846424102783	0.35844	D	0.553245	0.19112	T	0.38573444	0.59728	0.32700732	0.58602	0.38573444	0.59728	0.32700732	0.58601	-11.184	0.80658	D	.	.	0.958	0.87827	P	.;.	.;.	3.401085	0.47136	22.4	0.99288330465668151	0.58184	0.97710	0.76577	D	AEFDGBI	0.432974	0.49463	N	0.217877457421226	0.52066	3.383209	0.0787439638717727	0.43481	2.648978	0.999999968885196	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.39	4.39	0.52211	3.981000	0.56611	.	.	0.549000	0.26987	0.998000	0.41325	0.522000	0.25315	0.008000	0.08271	0.0:1.0:0.0:0.0	14.507	0.67342	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3088.33	34	chr8	143866916	.	C	T	3088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=1047;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.028;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	18	0	1	0
chr8	143867220	143867220	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6034A:p.A2012T	.	.	.	.	.	.	.	.	.	.	.	2203581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.514	0.0461274531745	.	.	.	.	.	.	.	.	.	.	.	.	.	rs545639287	6.163e-06	6.156e-06	6.812e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	7.42e-06	2.77e-06	0	4.474e-05	0	2.519e-05	0	0.0002	2.698e-06	3.314e-05	0	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.042	0.51112	D	.	.	.	.	.	.	.	.	.	.	0.997231	0.43729	D	2.125	0.59049	M	.	.	.	.	.	.	0.205	0.25006	-0.0073	0.82105	T	0.586	0.85149	D	9	0.47849625	0.60288	T	0.046127	0.62310	D	.	.	0.689	0.82653	0.702337487306	0.69975	0.35872704743815653	0.35786	.	.	0.532038211823	0.43322	T	0.119067	0.44033	T	-0.125874	0.32164	T	-0.321732	0.42384	T	0.842430353164673	0.49526	D	0.913109	0.69007	D	0.21249045	0.43603	0.3253939	0.58455	0.21249045	0.43603	0.3253939	0.58455	-7.547	0.57940	D	.	.	0.234	0.46688	B	.;.	.;.	3.070289	0.41265	21.3	0.99622581377615338	0.75533	0.99256	0.93532	D	AEFGBI	0.706846	0.66177	D	0.49265294690341	0.66658	4.978892	0.41034615029886	0.62207	4.432504	0.999999999997889	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.68	4.68	0.58319	0.481000	0.21969	.	.	0.549000	0.26987	0.066000	0.21956	0.002000	0.18203	0.589000	0.31115	0.0:1.0:0.0:0.0	15.107	0.72000	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2132.33	142	chr8	143867220	.	C	T	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.306;DP=2212;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.881;SOR=0.653	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	18	0	1	0
chr8	143872949	143872949	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G305T:p.G102V	.	8	1493	20	1	0	22	0.00731383	.	.	.	3213102	EPPK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.626	0.212623314097	0.0023	0.00159744	0.0026	0.0006	0.0019	0	0.0033	0.0039	0.0012	0.0004	0.0025032	387	154602	rs150047119	0.0027	0.0027	0.0028	0.0027	0.0085	0.0027	0.0026	0.0066	0.0059	0.0003	0.0024	0.0028	0	0.0029	0.0085	0.0031	0.0028	0.0006	0.0022	0.0022	0.0022	0.0022	0.0032	0.0020	0.0019	0.0026	0.0025	0.0005	0	0.0032	0.0035	0	0.0037	0.0034	0.0030	0.0024	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.996035	0.42982	D	3.015	0.86134	M	.	.	.	.	.	.	0.298	0.33687	0.440	0.89680	D	0.667	0.88452	D	9	0.021434188	0.00512	T	0.212623	0.87365	D	.	.	.	.	0.725777491668	0.72335	0.6858753226174671	0.68527	.	.	0.479449719191	0.35980	T	0.226334	0.59133	T	-0.172793	0.24814	T	-0.022455	0.68867	D	0.0617914585586412	0.07448	T	0.540746	0.18332	T	0.27580762	0.50644	0.28303823	0.54294	0.27580762	0.50644	0.28303823	0.54293	-11.072	0.80051	D	.	.	0.562	0.67293	A	.;.	.;.	2.750778	0.36054	20.1	0.99712121645330587	0.81423	0.44004	0.27223	N	AEFDBCI	0.228488	0.35215	N	0.368632121605946	0.59731	4.154885	0.215877206862129	0.50727	3.261809	0.99994291952032	0.47345	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.42	4.42	0.52775	0.597000	0.23759	.	.	-0.214000	0.08267	0.001000	0.13787	0.963000	0.29397	0.003000	0.05239	0.0:0.8928:0.0:0.1072	8.208	0.30625	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.025253	0.006793	0.020468	0.000000	0.008621	0.006098	0.003788	0.02632	1303.33	40	chr8	143872949	.	C	A	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.548;DP=805;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.055;SOR=0.592	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1245	18	0	1	0
chr8	143873067	143873067	G	A	exonic	EPPK1	.	stopgain	EPPK1:NM_031308:exon2:c.C187T:p.Q63X	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0006	0.0004	0	0	0.0001	0	0	0.0001488	23	154602	rs201041885	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0006	0.0010	0.0003	4.352e-05	0	0	0.0014	0.0002	0.0004	2.486e-05	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0006	0.0006	0.0009	0	0.0001	0	0	0	0	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.053	0.02964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247313	0.78347	D	0.49944	0.94603	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.270199	0.96338	36	0.99722937539984202	0.82195	0.41525	0.26676	N	AEFDBCI	0.174542	0.30168	N	0.311182502854069	0.56723	3.837405	0.0614881343581235	0.42630	2.582	0.999964756715178	0.48965	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.32	4.32	0.50899	1.459000	0.34844	.	.	-0.864000	0.02607	0.971000	0.34370	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.79:0.21	9.537	0.38396	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004087	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1141.33	40	chr8	143873067	.	G	A	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.594;DP=779;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.59;SOR=0.781	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1245	18	0	1	0
chr8	143919347	143919347	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G10432A:p.G3478S,PLEC:NM_201379:exon32:c.G10408A:p.G3470S,PLEC:NM_201380:exon32:c.G10885A:p.G3629S,PLEC:NM_201381:exon32:c.G10378A:p.G3460S,PLEC:NM_201382:exon32:c.G10474A:p.G3492S,PLEC:NM_201383:exon32:c.G10486A:p.G3496S,PLEC:NM_201384:exon32:c.G10474A:p.G3492S,PLEC:NM_000445:exon33:c.G10555A:p.G3519S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	564701	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.768	0.125109202711	.	0.000199681	4.984e-05	0	0	0.0001	0	1.504e-05	0	0.0002	4.53e-05	7	154602	rs544332992	4.447e-05	4.515e-05	4.357e-05	4.539e-05	0.0002	3.576e-05	3.258e-05	8.885e-05	7.053e-05	0.0001	0	3.826e-05	0.0001	0	0	3.327e-05	6.624e-05	0.0002	2.626e-05	2.624e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.022	0.48642	D	0.035	0.53426	D	1.0	0.90584	D	0.955	0.72923	D	0.003084	0.35449	U	0.169897	0.99999	0.58761	D	2.925	0.84406	M	-1.94	0.84919	D	-2.69	0.57435	D	0.73	0.79022	0.906	0.95758	D	0.829	0.94274	D	10	0.86807513	0.86061	D	0.125109	0.80658	D	0.768	0.92170	0.812	0.92788	0.794576342531	0.79266	0.5153483412086666	0.51457	.	.	0.480047494173	0.36063	T	0.283195	0.65595	T	0.00190316	0.51916	T	0.0652812	0.74595	D	0.493884616630785	0.32406	T	0.965203	0.87125	D	0.099464834	0.23474	0.1808876	0.40918	0.099464834	0.23473	0.1808876	0.40917	-10.542	0.77088	D	0.7107565493586747	0.79095	0.325	0.57091	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.988663	0.39896	21.1	0.96528568643511325	0.30144	0.95493	0.64940	D	AEFDGBHCI	0.691972	0.65179	D	0.842277971968999	0.88664	9.664117	0.741638515355782	0.85532	8.608532	0.999999999967079	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	5.761000	0.68452	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	18.172	0.89682	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5179.33	69	chr8	143919347	.	C	T	5179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=2083;ExcessHet=0;FS=4.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.659;SOR=0.515	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	143920094	143920094	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G9685A:p.V3229M,PLEC:NM_201379:exon32:c.G9661A:p.V3221M,PLEC:NM_201380:exon32:c.G10138A:p.V3380M,PLEC:NM_201381:exon32:c.G9631A:p.V3211M,PLEC:NM_201382:exon32:c.G9727A:p.V3243M,PLEC:NM_201383:exon32:c.G9739A:p.V3247M,PLEC:NM_201384:exon32:c.G9727A:p.V3243M,PLEC:NM_000445:exon33:c.G9808A:p.V3270M	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1397024	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.245	0.041924149485	8.1e-05	.	4.235e-05	0.0003	0	0	0	3.086e-05	0	0	3.23e-05	5	154602	rs377156107	1.848e-05	1.847e-05	2.18e-05	1.514e-05	0.0003	1.266e-05	1.085e-05	0.0002	0.0001	0.0003	0	0	2.519e-05	0	0	1.079e-05	3.312e-05	1.159e-05	4.598e-05	4.596e-05	3.853e-05	5.377e-05	0.0002	2.108e-05	1.526e-05	7.889e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.053	0.40319	T	0.146	0.36101	T	0.989	0.63424	D	0.578	0.50118	P	0.698099	0.06186	U	1.172930	1	0.08975	N	2.085	0.57729	M	-1.19	0.78860	T	-0.93	0.24898	N	0.216	0.29313	-0.7079	0.60056	T	0.395	0.74815	T	10	0.09698653	0.17434	T	0.041924	0.60190	D	0.245	0.55201	.	.	0.586083665809	0.58282	0.36706981553671797	0.36620	.	.	0.337151944637	0.16012	T	0.260354	0.63172	T	-0.297164	0.08930	T	-0.358656	0.38208	T	0.030114841752039	0.02007	T	0.805819	0.45382	T	0.02869675	0.02247	0.051093534	0.08154	0.02869675	0.02247	0.051093534	0.08153	-7.324	0.56366	T	0.1279639386989081	0.13186	0.141	0.37783	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.741377	0.11106	7.754	0.77031472212330743	0.11708	0.28452	0.23558	N	AEFDGBCI	0.156332	0.28167	N	-0.366589858652784	0.26666	1.457137	-0.51677827635681	0.21698	1.174993	0.999995933065483	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.67	2.84	0.32241	0.132000	0.15716	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7463:0.0:0.2537	8.211	0.30646	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4904.33	412	chr8	143920094	.	C	T	4904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=2149;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.423;SOR=0.676	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	143920658	143920658	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G9121A:p.V3041M,PLEC:NM_201379:exon32:c.G9097A:p.V3033M,PLEC:NM_201380:exon32:c.G9574A:p.V3192M,PLEC:NM_201381:exon32:c.G9067A:p.V3023M,PLEC:NM_201382:exon32:c.G9163A:p.V3055M,PLEC:NM_201383:exon32:c.G9175A:p.V3059M,PLEC:NM_201384:exon32:c.G9163A:p.V3055M,PLEC:NM_000445:exon33:c.G9244A:p.V3082M	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1028319	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.110416282478	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1281499416	1.929e-05	2.052e-05	1.92e-05	1.937e-05	2.159e-05	1.338e-05	1.151e-05	1.46e-05	1.227e-05	0	0	0	0	2.296e-05	0	2.159e-05	3.316e-05	1.159e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.095	0.37118	T	0.024	0.57587	D	0.93	0.53072	P	0.261	0.43814	B	0.188992	0.16897	U	0.475712	1	0.08975	N	1.175	0.29870	L	-0.75	0.73311	T	-0.08	0.10136	N	0.138	0.18920	-0.7584	0.57492	T	0.240	0.60762	T	10	0.18335289	0.33659	T	0.110416	0.78779	D	0.194	0.47447	0.543	0.65589	0.555788435936	0.55237	0.34153817993139984	0.34066	.	.	0.37684699893	0.21809	T	0.034071	0.23173	T	-0.142259	0.29530	T	-0.442122	0.28571	T	0.236784979701042	0.22270	T	0.839616	0.51418	T	0.04243262	0.06434	0.0691445	0.14531	0.04243262	0.06433	0.0691445	0.14531	-5.391	0.40833	T	0.14064699199625627	0.15758	0.105	0.19760	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.244337	0.16405	12.52	0.8335830561573998	0.14682	0.20858	0.21194	N	AEFDGBCI	0.186960	0.31426	N	-0.52145501395566	0.21388	1.134641	-0.623865000043341	0.18880	1.010584	0.999480925388053	0.39952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	0.99	0.18926	-0.385000	0.07438	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4065:0.5935:0.0	15.157	0.72430	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3781.33	61	chr8	143920658	.	C	T	3781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=2039;ExcessHet=0;FS=0.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=2.14;SOR=0.658	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	143921083	143921083	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8696T:p.P2899L,PLEC:NM_201379:exon32:c.C8672T:p.P2891L,PLEC:NM_201380:exon32:c.C9149T:p.P3050L,PLEC:NM_201381:exon32:c.C8642T:p.P2881L,PLEC:NM_201382:exon32:c.C8738T:p.P2913L,PLEC:NM_201383:exon32:c.C8750T:p.P2917L,PLEC:NM_201384:exon32:c.C8738T:p.P2913L,PLEC:NM_000445:exon33:c.C8819T:p.P2940L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	636685	Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.480	0.341551096273	.	.	2.488e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782043368	2.672e-05	2.736e-05	2.318e-05	3.03e-05	0.0002	2e-05	1.757e-05	8.885e-05	7.053e-05	2.987e-05	0	0	5.038e-05	0	0.0002	1.799e-05	3.312e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.034e-05	6.543e-05	1.261e-05	7.98e-06	1.17e-05	6.25e-06	2.412e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.195	0.34269	T	0.029	0.57104	D	0.999	0.77913	D	0.873	0.61978	P	0.000007	0.62929	U	0.000000	1	0.81001	D	2.74	0.80084	M	-0.99	0.76300	T	-2.95	0.63669	D	0.725	0.77507	0.108	0.84325	D	0.571	0.84476	D	10	0.71388704	0.73220	D	0.341551	0.92029	D	0.480	0.77077	0.408	0.44230	0.764253334005	0.76210	0.45101042624298665	0.45019	.	.	0.618685007095	0.55543	T	0.081514	0.36616	T	-0.0779572	0.40048	T	-0.113088	0.62365	T	0.781854391098022	0.45166	D	0.865113	0.56350	D	0.121022165	0.28467	0.16902587	0.38906	0.121022165	0.28466	0.16902587	0.38905	-9.31	0.69669	D	0.5911276105033179	0.65793	0.265	0.57775	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.548533	0.49877	22.8	0.93962463111751182	0.24032	0.92989	0.57045	D	AEFDGBHCI	0.771680	0.70624	D	0.332603296741365	0.57829	3.951915	0.18702351124326	0.49137	3.120424	0.99999999994996	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	3.93	0.44666	6.671000	0.74311	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.8425:0.1575	13.552	0.61202	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	8509.33	61	chr8	143921083	.	G	A	8509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=2599;ExcessHet=0;FS=2.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.214;SOR=0.851	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	143921279	143921279	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G8500A:p.D2834N,PLEC:NM_201379:exon32:c.G8476A:p.D2826N,PLEC:NM_201380:exon32:c.G8953A:p.D2985N,PLEC:NM_201381:exon32:c.G8446A:p.D2816N,PLEC:NM_201382:exon32:c.G8542A:p.D2848N,PLEC:NM_201383:exon32:c.G8554A:p.D2852N,PLEC:NM_201384:exon32:c.G8542A:p.D2848N,PLEC:NM_000445:exon33:c.G8623A:p.D2875N	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	982679	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0546814747115	.	.	8.295e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs781793289	2.736e-05	2.805e-05	2.042e-05	3.438e-05	0.0002	2.063e-05	1.816e-05	2.995e-05	2.038e-05	2.987e-05	0	0	0	5.633e-05	0.0002	2.428e-05	3.312e-05	6.956e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.418e-05	0	2.94e-05	0	0	0.045	0.40832	D	0.014	0.63918	D	0.992	0.64738	D	0.496	0.47529	P	0.003285	0.35154	U	0.169650	0.999998	0.58761	D	2.985	0.85602	M	-0.34	0.68474	T	-2.96	0.61865	D	0.492	0.55626	-0.1721	0.78377	T	0.395	0.74815	T	10	0.6173008	0.67779	D	0.054681	0.65950	D	0.297	0.61730	.	.	0.677776582198	0.67504	0.7040207537201142	0.70344	.	.	0.66345000267	0.61903	T	0.381138	0.74352	T	-0.196029	0.21379	T	-0.422504	0.30788	T	0.961527705192566	0.66107	D	0.954405	0.82627	D	0.07833077	0.17832	0.11652331	0.28130	0.07833077	0.17831	0.11652331	0.28129	-11.81	0.83913	D	0.4643694875808856	0.54600	0.332	0.58209	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.335840	0.45945	22.2	0.99128577281525787	0.53195	0.93615	0.58703	D	AEFGBHCI	0.656768	0.62864	D	0.50622176596057	0.67457	5.08419	0.486456651040273	0.67090	5.037948	0.999999999999985	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	5.994000	0.70296	.	.	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:1.0:0.0:0.0	18.216	0.89821	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7155.33	61	chr8	143921279	.	C	T	7155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=2757;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-1.308;QD=14.81;ReadPosRankSum=0.47;SOR=0.515	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr8	143922514	143922514	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.A7373G:p.K2458R,PLEC:NM_201379:exon31:c.A7349G:p.K2450R,PLEC:NM_201380:exon31:c.A7826G:p.K2609R,PLEC:NM_201381:exon31:c.A7319G:p.K2440R,PLEC:NM_201382:exon31:c.A7415G:p.K2472R,PLEC:NM_201383:exon31:c.A7427G:p.K2476R,PLEC:NM_201384:exon31:c.A7415G:p.K2472R,PLEC:NM_000445:exon32:c.A7496G:p.K2499R	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0493129535101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.365e-06	1.379e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.159	0.33109	T	0.946	0.53363	P	0.592	0.50503	P	0.003834	0.34438	U	0.176959	0.998421	0.44899	D	1.975	0.53506	M	-1.09	0.77593	T	-1.14	0.31375	N	0.169	0.18920	-0.0927	0.80266	T	0.427	0.77002	T	10	0.23268661	0.40270	T	0.049313	0.63758	D	0.329	0.65126	0.097	0.01334	0.740021457403	0.73769	0.3176020563790007	0.31673	.	.	0.459423243999	0.33230	T	0.138042	0.47131	T	-0.0548112	0.43714	T	-0.316509	0.42956	T	0.640177318604145	0.38045	D	0.914109	0.69400	D	0.09714688	0.22895	0.14641352	0.34688	0.09714688	0.22895	0.14641352	0.34687	-3.336	0.14576	T	0.25142731838027177	0.34024	0.100	0.17103	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.039069	0.83855	28.2	0.9631034552559643	0.29380	0.96019	0.67166	D	AEFDGBHCI	0.514033	0.54158	D	0.338707738580736	0.58145	3.985256	0.324925877330598	0.57008	3.865282	0.999999999999201	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	3.311000	0.51629	.	.	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.0:1.0	13.487	0.60826	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2370.33	54	chr8	143922514	.	T	C	2370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=1442;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.056;SOR=0.731	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	18	0	1	0
chr8	143923226	143923226	C	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G6661T:p.V2221L,PLEC:NM_201379:exon31:c.G6637T:p.V2213L,PLEC:NM_201380:exon31:c.G7114T:p.V2372L,PLEC:NM_201381:exon31:c.G6607T:p.V2203L,PLEC:NM_201382:exon31:c.G6703T:p.V2235L,PLEC:NM_201383:exon31:c.G6715T:p.V2239L,PLEC:NM_201384:exon31:c.G6703T:p.V2235L,PLEC:NM_000445:exon32:c.G6784T:p.V2262L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1870150	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.231442668164	.	.	5.193e-05	0	8.87e-05	0	0	0	0.0012	0.0002	3.88e-05	6	154602	.	4.204e-05	4.241e-05	1.647e-05	6.783e-05	0.0007	3.335e-05	3.023e-05	0.0006	0.0005	0	0	0	0	0	0	0	0	0.0007	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.038	0.44358	D	0.596	0.13140	T	0.057	0.22878	B	0.059	0.26602	B	0.582178	0.11133	U	0.740726	0.940051	0.26819	N	0.345	0.11182	N	-0.97	0.76037	T	-1.01	0.27463	N	0.345	0.53357	-0.9505	0.40885	T	0.158	0.49145	T	10	0.07839686	0.12491	T	0.231443	0.88276	D	0.178	0.44724	0.113	0.02240	0.453119318887	0.44934	0.40994276400030155	0.40910	.	.	0.563351511955	0.47740	T	0.079298	0.36095	T	-0.344347	0.05093	T	-0.371613	0.36700	T	0.0330050369923127	0.02472	T	0.963104	0.86259	D	0.032709565	0.03348	0.059349	0.11122	0.032709565	0.03348	0.059349	0.11121	-2.214	0.04138	T	0.18144399561117197	0.23397	0.168	0.44319	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.567260	0.33263	19.29	0.79107407457565404	0.12593	0.70735	0.34714	D	AEFDBCI	0.373484	0.45874	N	-0.903693179027637	0.10754	0.5155276	-0.768805296471018	0.15261	0.8017409	0.999994603496979	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.11	3.01	0.33872	1.878000	0.39244	.	.	-0.219000	0.08017	0.788000	0.29570	0.998000	0.33993	0.063000	0.16184	0.0:0.6068:0.0:0.3932	6.644	0.22116	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	5020.33	54	chr8	143923226	.	C	A	5020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1606;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=1.28;SOR=0.6	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	18	0	1	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T,PLEC:NM_201379:exon31:c.G5587A:p.A1863T,PLEC:NM_201380:exon31:c.G6064A:p.A2022T,PLEC:NM_201381:exon31:c.G5557A:p.A1853T,PLEC:NM_201382:exon31:c.G5653A:p.A1885T,PLEC:NM_201383:exon31:c.G5665A:p.A1889T,PLEC:NM_201384:exon31:c.G5653A:p.A1885T,PLEC:NM_000445:exon32:c.G5734A:p.A1912T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	266524	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|not_provided	MedGen:CN169374|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1699.33	54	chr8	143924276	.	C	T	1699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.011;DP=1151;ExcessHet=0;FS=1.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.363;SOR=0.818	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr8	143925059	143925059	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C4828T:p.R1610C,PLEC:NM_201379:exon31:c.C4804T:p.R1602C,PLEC:NM_201380:exon31:c.C5281T:p.R1761C,PLEC:NM_201381:exon31:c.C4774T:p.R1592C,PLEC:NM_201382:exon31:c.C4870T:p.R1624C,PLEC:NM_201383:exon31:c.C4882T:p.R1628C,PLEC:NM_201384:exon31:c.C4870T:p.R1624C,PLEC:NM_000445:exon32:c.C4951T:p.R1651C	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	491388	not_specified|not_provided|Inborn_genetic_diseases|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.405	0.588818851652	.	.	6.108e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782663079	3.955e-05	4.104e-05	4.265e-05	3.638e-05	8.728e-05	3.111e-05	2.791e-05	4.019e-05	2.824e-05	3.144e-05	0	0	8.306e-05	0	0	3.693e-05	6.891e-05	8.728e-05	2.635e-05	2.63e-05	2.576e-05	2.697e-05	4.416e-05	8.16e-06	5.15e-06	1.172e-05	6.25e-06	2.424e-05	0	0	0	0	0	0	4.416e-05	0	0	0.01	0.59928	D	0.007	0.72224	D	1.0	0.90584	D	0.992	0.86255	D	0.000023	0.55875	U	0.000000	0.999997	0.58761	D	2.62	0.76659	M	-1.3	0.80983	T	-2.75	0.59545	D	0.627	0.67477	0.314	0.87775	D	0.637	0.87317	D	10	0.6821116	0.71342	D	0.588819	0.96341	D	0.405	0.71791	0.18	0.08751	0.762374762484	0.76020	0.5906601456595366	0.58996	.	.	0.855174481869	0.90393	D	0.401956	0.75912	T	-0.0465483	0.44969	T	-0.0303402	0.68347	D	0.305784380321109	0.25241	T	0.998	0.99100	D	0.19153789	0.40785	0.08736243	0.20302	0.19153789	0.40785	0.08736243	0.20301	-10.794	0.78516	D	0.7289092363660911	0.81049	0.546	0.66601	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.887039	0.80198	27.3	0.99422019275229701	0.63838	0.91837	0.54370	D	AEFDGBCI	0.699441	0.65679	D	0.41997544465555	0.62520	4.469345	0.301164039778683	0.55609	3.72372	0.999999999892568	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	4.71	0.59010	3.546000	0.53409	.	.	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:0.8316:0.1684	12.400	0.54743	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3460.77	54	chr8	143925059	.	G	A	3460.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.91;DP=1042;ExcessHet=0;FS=3.292;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.47;ReadPosRankSum=2.59;SOR=0.455	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	17	1	1	0
chr8	143925343	143925343	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4544A:p.R1515H,PLEC:NM_201379:exon31:c.G4520A:p.R1507H,PLEC:NM_201380:exon31:c.G4997A:p.R1666H,PLEC:NM_201381:exon31:c.G4490A:p.R1497H,PLEC:NM_201382:exon31:c.G4586A:p.R1529H,PLEC:NM_201383:exon31:c.G4598A:p.R1533H,PLEC:NM_201384:exon31:c.G4586A:p.R1529H,PLEC:NM_000445:exon32:c.G4667A:p.R1556H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	370134	not_specified|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:CN169374|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.159	0.653667156034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057520714	1.145e-05	1.231e-05	1.274e-05	1.012e-05	2.62e-05	6.78e-06	5.48e-06	7.47e-06	5.84e-06	0	2.62e-05	0	0	2.889e-05	0	1.287e-05	0	0	4.602e-05	4.595e-05	5.144e-05	4.034e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	0	0	6.538e-05	0	0.0002	0	0	5.886e-05	0	0.0002	0.024	0.50132	D	0.019	0.60337	D	0.999	0.77913	D	0.884	0.62758	P	0.017811	0.27632	U	0.225179	1	0.08975	N	1.9	0.50570	L	1.9	0.77336	T	-2.0	0.47683	N	0.538	0.60325	-0.3225	0.74352	T	0.505	0.81368	D	10	0.60756004	0.67261	D	0.653667	0.97075	D	0.159	0.41286	0.184	0.09259	0.698281041325	0.69567	0.35768449750307735	0.35682	.	.	0.683434486389	0.64763	T	0.287355	0.66015	T	0.0080933	0.52764	T	-0.226151	0.52142	T	0.192845448851585	0.20010	T	0.956971	0.83666	D	0.0619323	0.12881	0.056792367	0.10211	0.08544344	0.19819	0.100439504	0.24015	-6.842	0.53425	T	0.2503662939533261	0.33887	0.169	0.37083	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.018821	0.59339	24.1	0.96702081243007532	0.30777	0.13305	0.17780	N	AEFDBCI	0.080872	0.16358	N	0.0120097754845968	0.42400	2.554041	-0.132444239555937	0.34090	1.95715	0.999999967681023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.180000	0.42167	.	.	0.589000	0.31548	0.849000	0.30428	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	16.787	0.85439	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	54	chr8	143925343	.	C	T	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.66;SOR=0.588	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr8	143925556	143925556	C	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4331T:p.R1444L,PLEC:NM_201379:exon31:c.G4307T:p.R1436L,PLEC:NM_201380:exon31:c.G4784T:p.R1595L,PLEC:NM_201381:exon31:c.G4277T:p.R1426L,PLEC:NM_201382:exon31:c.G4373T:p.R1458L,PLEC:NM_201383:exon31:c.G4385T:p.R1462L,PLEC:NM_201384:exon31:c.G4373T:p.R1458L,PLEC:NM_000445:exon32:c.G4454T:p.R1485L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	457981	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa_with_pyloric_atresia|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.153741139541	.	.	0.0003	0	0	0	0	7.825e-05	0	0.0014	0.0001488	23	154602	rs782720526	0.0001	0.0001	5.396e-05	0.0002	0.0012	9.132e-05	8.607e-05	0.0011	0.0010	0	2.277e-05	0	0	0	0.0010	2.257e-05	0.0002	0.0012	7.223e-05	7.218e-05	7.711e-05	6.713e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	0	0	0	0	0	0	0	8.824e-05	0.0005	0.0008	0.002	0.72154	D	0.005	0.72224	D	0.999	0.77913	D	0.929	0.66367	D	0.000830	0.41547	U	0.090347	0.999989	0.58761	D	2.31	0.66127	M	1.75	0.26152	T	-3.02	0.62976	D	0.709	0.74553	-0.9088	0.47001	T	0.134	0.44759	T	10	0.23019841	0.39965	T	0.153741	0.83496	D	0.209	0.49871	0.349	0.34598	0.5578725173	0.55448	0.7683707458830185	0.76786	.	.	0.933466553688	0.99171	D	0.323175	0.69411	T	-0.29831	0.08819	T	-0.241812	0.50621	T	0.126202881545462	0.15027	T	0.957804	0.84101	D	0.23518221	0.46350	0.17947765	0.40685	0.23518221	0.46350	0.17947765	0.40684	-9.496	0.72712	D	0.6458802132677781	0.71727	0.281	0.54198	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.114778	0.61453	24.3	0.95835651018275725	0.27949	0.79798	0.39614	D	AEFDBCI	0.494147	0.53006	N	0.48059431155774	0.65958	4.888407	0.432651473588278	0.63609	4.598301	0.999999999961725	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	3.801000	0.55249	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0:1.0:0.0:0.0	17.021	0.86307	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.002959	0.000000	0.000000	0.003067	0.003788	0.02632	1173.33	54	chr8	143925556	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=999;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.719;SOR=0.468	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr8	143929801	143929801	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon23:c.G2726A:p.R909H,PLEC:NM_201379:exon23:c.G2702A:p.R901H,PLEC:NM_201380:exon23:c.G3179A:p.R1060H,PLEC:NM_201381:exon23:c.G2672A:p.R891H,PLEC:NM_201382:exon23:c.G2768A:p.R923H,PLEC:NM_201383:exon23:c.G2780A:p.R927H,PLEC:NM_201384:exon23:c.G2768A:p.R923H,PLEC:NM_000445:exon24:c.G2849A:p.R950H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	.	457390	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.532528383408	8e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs371122460	9.468e-05	9.85e-05	9.905e-05	9.028e-05	0.0007	8.176e-05	7.662e-05	0.0002	0.0002	2.993e-05	0.0003	0	0.0002	7.314e-05	0.0007	9.097e-05	8.309e-05	1.162e-05	3.943e-05	3.94e-05	6.423e-05	1.345e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.54e-05	0	0	0	0	7.351e-05	0	0	0.012	0.57480	D	0.014	0.64786	D	0.986	0.61523	D	0.584	0.50293	P	0.001547	0.38671	U	0.099352	0.99936	0.46798	D	0.965	0.23975	L	-1.07	0.77466	T	0.38	0.06026	N	0.455	0.55366	-0.6872	0.61038	T	0.268	0.63960	T	10	0.18487486	0.33882	T	0.532528	0.95609	D	0.257	0.56827	.	.	0.770135142543	0.76802	0.475017415538734	0.47420	.	.	0.549523174763	0.45791	T	0.239134	0.60719	T	-0.196903	0.21252	T	-0.204458	0.54224	T	0.0725783495228541	0.09009	T	0.952405	0.96221	D	0.114991955	0.27141	0.1306339	0.31385	0.114991955	0.27141	0.1306339	0.31385	-4.093	0.37643	T	0.2089304811414547	0.27957	0.093	0.16713	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.725770	0.76062	26.4	0.84277680819181389	0.15198	0.67245	0.33363	D	AEFDGBCI	0.202447	0.32903	N	0.0349117889380892	0.43448	2.637603	0.0631927368315198	0.42713	2.58842	0.999999998786896	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.79	4.79	0.60909	2.269000	0.43005	.	.	0.539000	0.25131	0.985000	0.35982	0.998000	0.33993	0.983000	0.59808	0.0:0.9124:0.0:0.0876	11.062	0.47173	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1185.33	33	chr8	143929801	.	C	T	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.57;DP=1138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.31;SOR=0.63	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr8	143950204	143950204	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.C503T:p.P168L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	1194025	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_specified|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	.	0.0005	0.0081869	0.0187	0.0134	0.0016	0.0011	0	0.0002	0.0204	0.0666	0.0031242	483	154602	rs201053471	0.0017	0.0018	0.0011	0.0024	0.0265	0.0017	0.0017	0.0255	0.0251	0.0038	5.662e-05	0	0	2.095e-05	0.0025	5.327e-05	0.0025	0.0265	0.0021	0.0021	0.0016	0.0027	0.0334	0.0019	0.0018	0.0292	0.0276	0.0037	0	0.0001	0	0	9.413e-05	0.0068	2.941e-05	0.0005	0.0334	0.389	0.10874	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.465206	0.12344	N	0.667673	0.99916	0.81001	D	0.975	0.24501	L	-1.04	0.76561	T	-0.71	0.20145	N	0.125	0.11769	-0.9310	0.43992	T	0.228	0.59321	T	10	0.0021174252	0.00030	T	.	.	.	0.100	0.28662	.	.	0.218112801441	0.21410	0.30374898786339455	0.30287	.	.	0.518915235996	0.41473	T	0.052402	0.29152	T	-0.489249	0.00656	T	-0.455952	0.27042	T	0.00687257465251327	0.00078	T	0.677732	0.28664	T	0.04385817	0.06911	0.059327684	0.11114	0.048424006	0.08435	0.07295974	0.15800	-4.323	0.28498	T	.	.	0.065	0.01909	B	.	.	1.003883	0.13828	10.38	0.86978422107214026	0.16903	0.05748	0.11676	N	AEFDGBHCI	0.101815	0.20440	N	-0.844910004984061	0.12175	0.5918855	-0.81275407971719	0.14186	0.7399777	0.999999999994548	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.581474	0.35302	0	.	.	4.45	1.62	0.22817	-0.062000	0.11631	.	.	0.604000	0.46097	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.2109:0.1857:0.6034:0.0	4.457	0.11071	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007172	0.000000	0.004155	0.005988	0.000000	0.000000	0.000000	0.023438	0.02632	396.33	35	chr8	143950204	.	G	A	396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.4;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=1.79;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	18	0	1	0
chr8	143950226	143950226	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201380:exon1:c.C481T:p.R161W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	577053	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.174281979557	8.4e-05	.	5.788e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs375696082	2.067e-05	3.215e-05	1.966e-05	2.17e-05	6.236e-05	1.45e-05	1.254e-05	1.419e-05	1.185e-05	6.236e-05	0	0	5.441e-05	0	0	2.131e-05	3.456e-05	0	1.972e-05	1.97e-05	2.569e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.007	0.59928	D	0.024	0.56640	D	0.83	0.46087	P	0.075	0.28327	B	0.559789	0.11348	U	0.719798	1	0.81001	D	0	0.06538	N	-1.05	0.76690	T	-0.46	0.14978	N	0.239	0.26957	-0.8370	0.52845	T	0.177	0.52256	T	10	0.1316874	0.25064	T	0.174282	0.85072	D	0.216	0.50959	.	.	0.32714864917	0.32323	0.6019841086118183	0.60129	.	.	0.627201557159	0.56749	T	0.05739	0.30554	T	-0.0876579	0.38461	T	-0.363691	0.37625	T	0.2673274403225	0.23633	T	0.723528	0.33695	T	0.093069375	0.21850	0.06592059	0.13431	0.093069375	0.21849	0.06592059	0.13431	-6.095	0.47068	T	.	.	0.105	0.19276	B	.	.	2.050893	0.26070	16.99	0.95697713430471898	0.27585	0.02836	0.07583	N	AEFDGBHCI	0.202631	0.32921	N	-0.538734551286113	0.20838	1.101533	-0.493428954073213	0.22334	1.212565	0.999999999989118	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.581474	0.35302	0	.	.	4.45	3.57	0.40014	2.029000	0.40718	.	.	-0.252000	0.07121	0.005000	0.17040	0.999000	0.35428	0.707000	0.34357	0.0:0.7982:0.2018:0.0	10.440	0.43644	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001019	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	847.33	35	chr8	143950226	.	G	A	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=736;ExcessHet=0;FS=6.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.998;SOR=1.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	18	0	1	0
chr8	144053012	144053012	G	A	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon21:c.C2989T:p.R997C	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	8	1505	8	1	0	10	0.00331126	.	.	YES	722927	5-Oxoprolinase_deficiency|OPLAH-related_disorder	Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0677678209345	0.0007	0.000998403	0.0020	0.0008	0.0019	0	0.0042	0.0021	0.0069	0.0028	0.0010673	165	154602	rs200620019	0.0015	0.0015	0.0015	0.0016	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0012	0.0002	0	0.0018	0.0016	0.0017	0.0015	0.0017	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0013	0.0004	0	0.0014	0.0003	0	0.0013	0	0.0017	0.0019	0.0019	.	.	.	0.245	0.24054	T	0.001	0.07471	B	0.0	0.01387	B	0.000665	0.42516	N	0.224693	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.34874	-1.0697	0.09479	T	0.069	0.28280	T	7	0.024509609	0.00677	T	0.067768	0.70262	D	.	.	.	.	0.0611884634855	0.05136	0.7345155527722153	0.73396	.	.	0.446842074394	0.31513	T	0.228207	0.59369	T	-0.313085	0.07478	T	-0.235732	0.51215	T	0.0175973269371574	0.00492	T	0.927207	0.73169	D	0.13649634	0.31640	0.09140176	0.21488	0.13649634	0.31639	0.09140176	0.21487	-5.705	0.43738	T	.	.	0.071	0.03811	B	.	.	1.180808	0.15714	12.05	0.77116757265257052	0.11743	0.93207	0.57605	D	AEFDGBCI	0.294135	0.40459	N	-0.76091193151905	0.14339	0.7134327	-0.711350193189876	0.16678	0.8834247	0.999804926266527	0.43304	0.144939	0.03206	3	0.096583	0.02683	0	0.090275	0.02917	3	0.091162	0.02695	0	.	.	4.68	0.665	0.17066	0.306000	0.19030	.	.	-0.154000	0.11915	0.069000	0.22043	0.000000	0.08366	0.095000	0.18041	0.387:0.0:0.4565:0.1565	3.979	0.08977	970	0.06235	Hydantoinase B/oxoprolinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001517	0.005102	0.001366	0.002959	0.000000	0.000000	0.003067	0.000000	0.02632	2344.33	45	chr8	144053012	.	G	A	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=953;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.55;SOR=0.79	GT:AD:DP:GQ:PL	0/1:107,91:198:99:2358,0,2458	18	0	1	0
chr8	144059000	144059000	C	G	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon4:c.G443C:p.G148A	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	8	1436	75	3	0	81	0.0274297	.	.	.	1155884	5-Oxoprolinase_deficiency|not_provided	Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.168	.	0.0028	0.00778754	0.0178	0.0004	0.007	0	0.0181	0.0153	0.0254	0.0298	0.0055045	851	154602	rs111254751	0.0057	0.0057	0.0050	0.0064	0.0276	0.0056	0.0055	0.0266	0.0263	0.0008	0.0024	0.0171	5.414e-05	0.0068	0.0117	0.0041	0.0070	0.0276	0.0049	0.0049	0.0041	0.0057	0.0302	0.0046	0.0045	0.0262	0.0247	0.0007	0.0219	0.0040	0.0159	0.0002	0.0064	0.0102	0.0051	0.0076	0.0302	.	.	.	0.973	0.02465	T	0.0	0.02946	B	0.001	0.04355	B	0.064554	0.21945	N	0.519343	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	-1.0098	0.26981	T	0.061	0.25599	T	7	0.0035135448	0.00063	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.4468107289468494	0.44599	.	.	0.525523781776	0.42404	T	0.016585	0.13680	T	-0.42694	0.01547	T	-0.365097	0.37462	T	0.0111118180138151	0.00162	T	0.747125	0.40643	T	0.05118481	0.09360	0.16104926	0.37481	0.07288646	0.16248	0.16104926	0.37480	-3.212	0.12628	T	.	.	0.076	0.10111	B	.;.	.;.	1.347973	0.17552	13.23	0.74080945676488097	0.10563	0.26411	0.22985	N	AEFDBCI	0.111567	0.22085	N	-0.845587006874686	0.12158	0.5909702	-0.847139071525035	0.13356	0.692433	0.999998739767042	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.079188	0.02158	0	.	.	4.83	3.79	0.42757	1.513000	0.35430	.	.	0.587000	0.30956	0.001000	0.13787	1.000000	0.68203	0.020000	0.11549	0.0:0.8578:0.0:0.1422	8.797	0.34047	970	0.06235	Hydantoinaseoxoprolinase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015291	0.000000	0.005495	0.005917	0.000000	0.017544	0.021875	0.050000	0.02632	1120.33	37	chr8	144059000	.	C	G	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.692;SOR=0.68	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr8	144084422	144084422	G	C	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon7:c.G823C:p.E275Q	.	427	1037	57	1	0	59	0.0276606	.	.	.	700476	not_provided|GPAA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0071	0.0113818	0.0093	0.0136	0.0029	0	0.0056	0.0064	0.0112	0.0288	0.0085381	1320	154602	rs112703109	0.0061	0.0061	0.0054	0.0068	0.0283	0.0060	0.0060	0.0274	0.0270	0.0104	0.0034	0.0168	5.045e-05	0.0065	0.0115	0.0042	0.0080	0.0283	0.0082	0.0082	0.0077	0.0086	0.0301	0.0078	0.0076	0.0261	0.0246	0.0116	0.0219	0.0069	0.0161	0.0002	0.0065	0.0102	0.0050	0.0100	0.0301	0.808	0.03937	T	0.641	0.07059	T	0.0	0.02946	B	0.0	0.04355	B	0.004508	0.33669	N	0.285262	1	0.08975	N	0.975	0.24501	L	.	.	.	0.34	0.03824	N	0.207	0.22998	-1.0353	0.18762	T	0.021	0.08732	T	9	0.0058893263	0.00132	T	.	.	.	0.158	0.41098	.	.	0.427368086475	0.42351	0.39298266091804934	0.39213	0.313169303204	0.33613	0.452805101871	0.32327	T	0.006263	0.05696	T	-0.671781	0.00054	T	-0.716114	0.04985	T	0.00119590860515189	0.00012	T	0.0780922	0.00575	T	0.09958066	0.23503	0.08253118	0.18843	0.076935574	0.17429	0.08253118	0.18843	-1.956	0.03019	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	2.059556	0.26183	17.03	0.56832782611436206	0.05637	0.11326	0.16559	N	AEFGBI	0.047115	0.07899	N	-0.725702155193589	0.15301	0.7699469	-0.521972702784209	0.21557	1.16673	0.999990255331074	0.74766	0.736574	0.97449	0	0.685571	0.66316	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.59	4.52	0.54797	0.977000	0.29072	4.774000	0.44793	-0.174000	0.10959	0.995000	0.38783	1.000000	0.68203	0.436000	0.27583	0.0:0.7661:0.1459:0.088	10.019	0.41201	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.006793	0.005848	0.000000	0.025862	0.018293	0.037879	0.02632	1449.33	35	chr8	144084422	.	G	C	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=845;ExcessHet=0;FS=5.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.867;SOR=1.253	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	18	0	1	0
chr8	144085458	144085458	C	T	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon10:c.C1430T:p.A477V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.00851862146208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.11586	T	1.0	0.01155	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.635	0.15989	N	.	.	.	0.12	0.05604	N	0.663	0.69737	-0.8299	0.53308	T	0.229	0.59396	T	9	0.64279103	0.69154	D	0.008519	0.22532	T	0.252	0.56159	0.531	0.63855	0.647601017301	0.64468	0.43096968766715454	0.43013	0.483291887434	0.47286	0.642113149166	0.58864	T	0.004468	0.03877	T	0.178254	0.71881	D	0.0182731	0.71518	D	0.870857775211334	0.52076	D	0.918608	0.70760	D	0.4406316	0.63443	0.34285456	0.60005	0.4406316	0.63444	0.34285456	0.60005	-5.051	0.37537	T	0.3848427014760419	0.47878	0.256	0.51472	B	.;.	.;.	4.513628	0.70700	25.6	0.98415638993433641	0.41223	0.98976	0.89428	D	AEFDGBHI	0.841907	0.75906	D	0.504069795319267	0.67331	5.067279	0.542424178895686	0.70871	5.569529	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	6.621000	0.74096	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:1.0:0.0:0.0	15.834	0.78555	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	908.33	35	chr8	144085458	.	C	T	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.785;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.126;SOR=0.781	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1453	18	0	1	0
chr8	144095930	144095930	T	C	exonic	CYC1	.	nonsynonymous SNV	CYC1:NM_001916:exon2:c.T227C:p.M76T	Mitochondrial complex III deficiency, nuclear type 6, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	237043	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00462841680877	0.0037	0.000998403	0.0044	0.0007	0.0012	0	0.0070	0.0068	0.0044	0.0005	0.0041914	648	154602	rs144257411	0.0053	0.0053	0.0053	0.0052	0.0063	0.0052	0.0051	0.0061	0.0061	0.0007	0.0012	0.0004	0	0.0077	0.0007	0.0063	0.0035	0.0006	0.0037	0.0037	0.0038	0.0036	0.0060	0.0035	0.0034	0.0055	0.0053	0.0010	0	0.0011	0.0006	0	0.0087	0	0.0060	0.0014	0.0004	0.2	0.20381	T	0.365	0.16717	T	0.0	0.02946	B	0.0	0.01387	B	0.001705	0.38216	N	0.180017	0.999994	0.08975	N	0	0.06538	N	1.6	0.28604	T	0.26	0.04380	N	0.037	0.01135	-1.0322	0.19745	T	0.022	0.09193	T	10	0.0060787797	0.00137	T	0.004628	0.11472	T	0.041	0.10877	.	.	0.278932316844	0.27492	0.43819208571488455	0.43736	0.316260610975	0.33892	0.487932920456	0.37152	T	0.131141	0.46046	T	-0.526457	0.00403	T	-0.519601	0.20335	T	0.00418241749899325	0.00045	T	0.0669933	0.00488	T	0.05842244	0.11750	0.08442583	0.19421	0.06313407	0.13262	0.097455285	0.23198	-4.767	0.34204	T	0.06367226896753775	0.01973	0.155	0.34339	B	.	.	1.686947	0.21495	15.22	0.45185560154780191	0.03528	0.76722	0.37651	D	AEFDGBHCI	0.612370	0.60047	D	-0.842304015352836	0.12239	0.5954094	-0.703553344039731	0.16872	0.8945801	0.999999997672044	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.3	3.12	0.34986	3.610000	0.53874	3.926000	0.40503	0.665000	0.62972	0.972000	0.34453	1.000000	0.68203	0.587000	0.31065	0.0:0.0:0.2135:0.7865	7.749	0.28053	970	0.06235	.	.	.	.	.	chr8:145150833	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1441.33	120	chr8	144095930	.	T	C	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.76;DP=1674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.604;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	18	0	1	0
chr8	144098948	144098948	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon8:c.G1094A:p.R365H	.	404	1062	55	1	0	57	0.0261348	.	.	.	722937	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.454	.	0.0038	0.0071885	0.0081	0.0005	0.0023	0.0002	0.0061	0.0064	0.0114	0.0285	0.007432	1149	154602	rs112552278	0.0057	0.0058	0.0050	0.0064	0.0279	0.0056	0.0056	0.0270	0.0266	0.0007	0.0026	0.0170	0.0002	0.0069	0.0111	0.0041	0.0070	0.0279	0.0049	0.0049	0.0041	0.0056	0.0294	0.0046	0.0045	0.0255	0.0240	0.0007	0.0219	0.0041	0.0161	0.0004	0.0069	0.0102	0.0049	0.0080	0.0294	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999915	0.81001	D	3.055	0.86842	M	0.34	0.58176	T	-4.96	0.81985	D	0.49	0.52386	-0.3880	0.72404	T	0.267	0.63876	T	9	0.00789538	0.00179	T	.	.	.	0.454	0.75347	.	.	0.727222142171	0.72480	0.7223741412141915	0.72181	0.749429864137	0.63691	0.610623657703	0.54403	T	0.357198	0.91100	T	-0.174483	0.24559	T	-0.0017796	0.70220	D	0.0476921721552501	0.05088	T	0.957404	0.83962	D	0.45455357	0.64330	0.37070495	0.62314	0.45455357	0.64330	0.37070495	0.62314	-9.367	0.70028	D	.	.	0.360	0.58452	A	.;.	.;.	5.139902	0.86053	28.8	0.99924115266711533	0.98980	0.96159	0.67803	D	AEFDBHCI	0.679610	0.64358	D	0.667513532820516	0.77506	6.687858	0.579683679077292	0.73484	5.978135	0.999999999995895	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	4.469000	0.59902	5.907000	0.50968	0.585000	0.30472	0.993000	0.37899	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	12.509	0.55341	970	0.06235	Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-type;Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013609	0.005102	0.005435	0.005848	0.000000	0.017241	0.018293	0.037879	0.02632	1345.33	38	chr8	144098948	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.464;DP=744;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.78;SOR=0.931	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr8	144112254	144112254	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon14:c.C2926G:p.L976V	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.501040461613	.	0.000798722	0.0020	0	0	0	0	0.0059	0	0.0004	0.0002975	46	154602	rs141421747	0.0009	0.0008	0.0010	0.0009	0.0228	0.0009	0.0008	0.0191	0.0177	0.0003	0.0007	0.0101	0	2.991e-05	0.0228	0.0004	0.0016	0.0003	0.0007	0.0007	0.0008	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0.0002	0	0.0008	0.0150	0	0	0.0068	0.0005	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	-0.56	0.71187	T	-0.48	0.15379	N	0.217	0.24260	-0.7293	0.58999	T	0.288	0.66007	T	6	0.008880794	0.00201	T	0.50104	0.95152	D	0.067	0.19503	.	.	0.280181792013	0.27631	0.22345629664438724	0.22260	.	.	.	.	.	0.018635	0.14986	T	-0.305125	0.08186	T	-0.322034	0.42350	T	0.10232158726604	0.12611	T	0.541746	0.18406	T	0.09086301	0.21275	0.14674753	0.34755	0.09086301	0.21274	0.14674753	0.34754	-4.721	0.33657	T	.	.	0.157	0.34689	B	.	.	1.863174	0.23667	16.11	0.98760119055797535	0.45800	0.19487	0.20680	N	AEFDGBI	0.110040	0.21835	N	-0.594174907770862	0.19120	0.9982414	-0.692640179703792	0.17144	0.9102916	0.991493738051271	0.32508	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.6	1.83	0.24279	-0.198000	0.09506	0.664000	0.20530	-0.257000	0.07002	0.000000	0.06391	0.203000	0.23585	0.001000	0.02609	0.0:0.683:0.0:0.317	6.062	0.19068	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1449.33	101	chr8	144112254	.	C	G	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.236;DP=784;ExcessHet=0;FS=2.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.75;SOR=0.436	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1134	18	0	1	0
chr8	144139075	144139075	A	G	exonic	HGH1	.	nonsynonymous SNV	HGH1:NM_016458:exon4:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.014896837752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028032893	1.437e-05	1.436e-05	1.089e-05	1.788e-05	1.709e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	3.312e-05	0	3.284e-05	3.283e-05	2.569e-05	4.033e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.342	0.12632	T	0.289	0.21078	T	0.804	0.45171	P	0.566	0.49756	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	0.82	0.48142	T	-1.33	0.33197	N	0.212	0.23632	-0.9265	0.44645	T	0.164	0.50144	T	10	0.22163445	0.38894	T	0.014897	0.35312	T	0.118	0.32913	0.479	0.55823	0.107399877778	0.10242	0.4729696627140401	0.47215	.	.	0.635546386242	0.57932	T	0.04153	0.25890	T	0.00158271	0.51873	T	-0.235503	0.51236	T	0.89125669002533	0.54218	D	0.815918	0.47089	T	0.15341735	0.34776	0.17026141	0.39122	0.15341735	0.34776	0.17026141	0.39121	-9.637	0.71709	D	.	.	0.106	0.19598	B	.	.	3.748733	0.53721	23.4	0.99859763382848155	0.93820	0.97395	0.74477	D	AEFGI	0.484433	0.52445	N	0.375690749742399	0.60108	4.196177	0.416724750002354	0.62607	4.478917	0.999887222191409	0.44867	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	3.591000	0.53733	7.863000	0.71547	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.335	0.48734	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	34	chr8	144139075	.	A	G	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=805;ExcessHet=0;FS=5.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=2.6;SOR=0.387	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,878	18	0	1	0
chr8	144247603	144247603	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon29:c.G3017A:p.R1006Q,MROH1:NM_032450:exon31:c.G3044A:p.R1015Q	.	419	1065	37	1	0	39	0.0179806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00690737734917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936258637	0.0053	0.0055	0.0048	0.0057	0.0147	0.0052	0.0051	0.0113	0.0101	0.0006	0.0034	0.0253	5.565e-05	0.0006	0.0147	0.0056	0.0066	0.0055	0.0038	0.0038	0.0041	0.0036	0.0051	0.0036	0.0035	0.0047	0.0045	0.0010	0	0.0039	0.0297	0	0.0007	0	0.0051	0.0033	0.0043	0.459	0.09458	T	0.46	0.12597	T	0.026	0.19406	B	0.001	0.04355	B	0.687961	0.10201	N	0.814201	0.999988	0.24050	N	0.53	0.13656	N	3.35	0.05989	T	0.06	0.06253	N	0.105	0.09914	-0.9061	0.47320	T	0.009	0.03011	T	10	0.005995035	0.00135	T	0.006907	0.18289	T	0.019	0.03383	0.395	0.42099	0.043077524339	0.03247	0.2598633037543448	0.25900	0.249219304912	0.27497	0.220795512199	0.01356	T	0.005178	0.04625	T	-0.358869	0.04194	T	-0.753267	0.03360	T	0.0321912840008736	0.02337	T	0.832317	0.50011	T	0.053469077	0.10121	0.060648672	0.11584	0.053469077	0.10121	0.060648672	0.11584	-7.506	0.57653	D	.	.	0.063	0.01762	B	.;.;.	.;.;.	-0.171096	0.03241	0.546	0.92187150469917256	0.21554	0.04579	0.10227	N	AEFGI	0.056406	0.10426	N	-1.1014172102638	0.06618	0.3051744	-1.09753797663091	0.07748	0.3781383	4.68950002047965E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.51	-1.81	0.07456	-1.008000	0.03774	-2.122000	0.04180	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.5122:0.1825:0.3053:0.0	4.322	0.10463	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	39	chr8	144247603	.	G	A	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=746;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.231;SOR=0.385	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1220	18	0	1	0
chr8	144264233	144264233	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G970A:p.E324K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0192376660274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904680381	0.0013	0.0013	0.0012	0.0014	0.0097	0.0013	0.0012	0.0076	0.0068	0.0003	0.0015	0.0173	2.528e-05	3.861e-05	0.0097	0.0010	0.0028	0.0013	0.0014	0.0014	0.0013	0.0015	0.0018	0.0012	0.0012	0.0012	0.0011	0.0005	0.0121	0.0018	0.0164	0	0	0.0068	0.0012	0.0024	0.0004	0.228	0.18434	T	0.15	0.32461	T	.	.	.	.	.	.	0.001395	0.39175	N	0.211078	.	.	.	.	.	.	1.07	0.39586	T	-2.44	0.53420	N	0.236	0.26596	-0.8609	0.51198	T	0.114	0.40559	T	6	0.014840722	0.00312	T	0.10154	0.77448	D	.	.	.	.	0.283272178027	0.27931	0.43584697494302443	0.43501	.	.	0.764852046967	0.76653	T	0.194478	0.55027	T	-0.188948	0.22413	T	-0.509187	0.21399	T	0.872432172298431	0.52231	D	.	.	.	0.09370612	0.22014	0.1122232	0.27075	0.09370612	0.22014	0.1122232	0.27074	-9.848	0.72997	D	.	.	0.092	0.13783	B	.	.	1.559095	0.19974	14.53	0.97557370007692779	0.34604	0.30039	0.23979	N	AEFGI	0.308554	0.41510	N	-0.477214403953392	0.22830	1.221735	-0.552560978675029	0.20738	1.118674	0.0671524018112715	0.15417	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	2.67	0.30756	0.739000	0.25841	1.068000	0.23780	-0.195000	0.09104	0.008000	0.17931	0.307000	0.24252	0.001000	0.02609	0.0:0.8837:0.0:0.1163	8.855	0.34379	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3589.83	39	chr8	144264233	.	C	T	3589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=954;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.594;SOR=0.654	GT:AD:DP:GQ:PL	0/1:82,67:149:99:1767,0,1999	17	0	2	0
chr8	144312185	144312185	-	GCCC	exonic	HSF1	.	frameshift insertion	HSF1:NM_005526:exon9:c.1083_1084insGCCC:p.P362Afs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	6.263e-05	0.0001	0.0002	7.735e-05	8.086e-05	0	0.0002	0.0002	5.896e-05	0.0002	0.0004	0.0002	0.0001	0.0004	0.0001	9.142e-05	7.271e-05	4.34e-05	5.156e-05	0	0.0001	0.0003	0.0004	0.0006	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	158.29	44	chr8	144312185	.	T	TGCCC	158.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.17;DP=711;ExcessHet=0;FS=90.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-3.524;SOR=4.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1066	18	0	1	0
chr8	144360369	144360369	G	C	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.G877C:p.V293L,SLC52A2:NM_001253816:exon3:c.G877C:p.V293L,SLC52A2:NM_001363118:exon3:c.G877C:p.V293L,SLC52A2:NM_001363120:exon3:c.G877C:p.V293L,SLC52A2:NM_001363121:exon3:c.G877C:p.V293L,SLC52A2:NM_001363122:exon3:c.G385C:p.V129L,SLC52A2:NM_024531:exon3:c.G877C:p.V293L	Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.121101585875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	6.84e-07	1.367e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.42199	T	0.024	0.56640	D	0.708	0.42036	P	0.417	0.44992	B	0.000024	0.55875	D	0.069759	0.999782	0.81001	D	2.35	0.67516	M	-0.73	0.73100	T	-1.85	0.44471	N	0.335	0.37613	-0.6296	0.63588	T	0.284	0.65635	T	10	0.57824004	0.65702	D	0.121102	0.80179	D	0.233	0.53499	0.626	0.76141	0.557713733399	0.55431	0.6373272206832785	0.63666	0.48504829238	0.47404	0.646400094032	0.59475	T	0.320328	0.69153	T	-0.0196317	0.48906	T	-0.265976	0.48226	T	0.578073620796204	0.35545	D	.	.	.	0.09969778	0.23533	0.16438422	0.38083	0.09969778	0.23532	0.16438422	0.38082	-8.704	0.65772	D	.	.	0.172	0.37839	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.357108	0.30230	18.37	0.97698780649262873	0.35424	0.94880	0.62650	D	AEFDGBI	0.604650	0.59566	D	-0.0571480453417731	0.39282	2.314102	-0.116612179414325	0.34719	2.000386	0.999997796220713	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.87	4.0	0.45673	3.540000	0.53366	6.637000	0.56171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.197:0.0:0.803:0.0	7.432	0.26305	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1543.33	34	chr8	144360369	.	G	C	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=805;ExcessHet=0;FS=2.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.118;SOR=0.911	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr8	144398592	144398592	G	C	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon18:c.C1685G:p.T562S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.133645095696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.06090	T	0.0	0.02946	B	0.001	0.04355	B	0.132869	0.02823	N	1.627630	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.143	0.16864	-1.0571	0.12491	T	0.055	0.23300	T	8	0.07321414	0.11032	T	0.133645	0.81603	D	.	.	0.276	0.22845	0.296329037015	0.29243	0.13069900145953686	0.12994	.	.	0.515226483345	0.40955	T	0.032573	0.22544	T	-0.288103	0.09828	T	-0.651616	0.08841	T	0.0245373218501619	0.01212	T	.	.	.	0.094591744	0.22242	0.063193195	0.12483	0.094591744	0.22241	0.063193195	0.12482	-2.565	0.06242	T	.	.	0.065	0.02038	B	.;.	.;.	-0.171103	0.03241	0.546	0.21458448632728319	0.00818	0.33221	0.24776	N	AEFBCI	0.059469	0.11235	N	-1.31983152698749	0.03448	0.1540629	-1.38779553475195	0.03381	0.1576054	0.123083854705659	0.16928	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.470000	0.26722	0.493000	0.25163	0.005000	0.06747	.	.	.	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1971.33	181	chr8	144398592	.	G	C	1971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=909;ExcessHet=0;FS=4.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.243;SOR=0.85	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1160	18	0	1	0
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L,SLC39A4:NM_130849:exon2:c.C257T:p.P86L	Acrodermatitis enteropathica, Autosomal recessive	0	1468	50	4	0	58	0.0193721	.	.	YES	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022796	0.010309	0.029973	0.055556	0.000000	0.017544	0.006173	0.007576	0.02632	1072.33	66	chr8	144416027	.	G	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.926;DP=1051;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.389;SOR=0.852	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr8	144435946	144435948	CTC	-	exonic	TONSL	.	nonframeshift deletion	TONSL:NM_013432:exon17:c.2485_2487del:p.829_829del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.804e-05	0	0	0	0	4.254e-05	0	0.0002	3.84e-05	1	26028	rs753097353	1.842e-05	1.779e-05	1.537e-05	2.154e-05	8.644e-05	1.281e-05	1.089e-05	3.984e-05	2.802e-05	0	0	0	0	0	0	1.659e-05	1.717e-05	8.644e-05	6.597e-06	6.58e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	981.29	53	chr8	144435945	.	ACTC	A	981.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=956;ExcessHet=0;FS=16.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.561;SOR=0.352	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr8	144473375	144473375	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.G2362A:p.G788S	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0053	0.00219649	0.0127	0.0017	0.0080	0	0.0122	0.0204	0	0.0053	0.0047477	734	154602	rs201074786	0.0088	0.0088	0.0090	0.0087	0.0102	0.0087	0.0087	0.0101	0.0100	0.0016	0.0048	0.0075	2.656e-05	0.0040	0.0045	0.0102	0.0079	0.0033	0.0063	0.0063	0.0065	0.0061	0.0100	0.0060	0.0058	0.0094	0.0092	0.0017	0.0099	0.0063	0.0066	0	0.0039	0.0238	0.0100	0.0071	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922249	0.27265	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003955841	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	1.176218	0.15662	12.01	0.79034809031486375	0.12561	0.11736	0.16829	N	AEFDBCI	0.010002	0.00065	N	-0.567136055441639	0.19950	1.048079	-0.732243169405619	0.16160	0.8535348	0.999969881673535	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.48	1.66	0.23081	0.369000	0.20149	1.955000	0.29907	0.618000	0.50648	0.035000	0.20724	0.988000	0.31051	0.039000	0.14166	0.2172:0.0:0.7828:0.0	7.859	0.28662	940	0.13648	.	BOP1	Brain_Hypothalamus	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003564	0.000000	0.005464	0.000000	0.000000	0.008772	0.003125	0.000000	0.02632	2413.33	161	chr8	144473375	.	G	A	2413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=858;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.102;SOR=0.634	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1299	18	0	1	0
chr8	144506631	144506631	C	A	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon9:c.C1262A:p.P421H,GPT:NM_001382664:exon10:c.C1262A:p.P421H,GPT:NM_001382665:exon10:c.C1262A:p.P421H	.	398	1122	2	0	0	2	0.000890472	.	.	.	2359154	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.499661333993	.	.	0.0002	0	0	0	0	0.0001	0	0.0002	1.94e-05	3	154602	rs781699796	1.991e-05	1.984e-05	1.686e-05	2.303e-05	0.0012	1.38e-05	1.188e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.384e-05	0	7.468e-05	1.973e-05	1.971e-05	0	4.04e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.675	0.94400	H	-2.66	0.90272	D	-8.04	0.96594	D	0.378	0.41952	1.063	0.98420	D	0.905	0.96856	D	10	0.9256747	0.91916	D	0.499661	0.95132	D	0.806	0.93699	0.818	0.93195	0.893959610281	0.89291	0.9221320023610163	0.92190	0.413070297786	0.42027	0.620860159397	0.55851	T	0.803833	0.95026	D	-0.0213641	0.48659	T	-0.00403615	0.70073	D	0.996428787708282	0.89318	D	0.856214	0.54490	D	0.8364281	0.86353	0.792728	0.87815	0.8364281	0.86355	0.792728	0.87815	-11.463	0.82137	D	.	.	0.476	0.63481	A	.;.	.;.	3.916045	0.57135	23.8	0.99582896376129226	0.73099	0.95468	0.64841	D	AEFDBHCI	0.960612	0.98150	D	0.795238232209871	0.85806	8.687659	0.619033044711163	0.76321	6.469847	0.999999999998892	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.54	4.54	0.55220	2.462000	0.44706	7.413000	0.58658	0.596000	0.33519	0.600000	0.27747	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr8	144506631	.	C	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.799;DP=698;ExcessHet=0;FS=3.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.86;SOR=0.34	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr8	144510871	144510871	C	T	exonic	MFSD3	.	nonsynonymous SNV	MFSD3:NM_138431:exon4:c.C1033T:p.R345C	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0053	0.0061901	0.0016	0.0132	0.0016	0	0	0.0006	0.0023	6.061e-05	0.0016235	251	154602	rs73377627	0.0009	0.0009	0.0010	0.0009	0.0139	0.0009	0.0009	0.0128	0.0124	0.0139	0.0026	7.652e-05	2.519e-05	6.23e-05	0.0035	0.0005	0.0021	0.0002	0.0051	0.0051	0.0053	0.0048	0.0144	0.0048	0.0047	0.0134	0.0131	0.0144	0	0.0067	0	0	0.0002	0.0170	0.0008	0.0076	0.0002	0.019	0.50132	D	0.029	0.54541	D	0.015	0.17086	B	0.006	0.12133	B	0.017474	0.27716	N	0.411868	0.821641	0.34785	D	1.155	0.29575	L	0.44	0.56609	T	-2.33	0.51646	N	0.307	0.34659	-1.0046	0.28577	T	0.080	0.31556	T	10	0.010274202	0.00229	T	.	.	.	0.050	0.13987	.	.	0.523961927912	0.52041	0.34254849187480046	0.34167	0.0293363876473	0.03019	0.259048759937	0.04779	T	0.287443	0.66024	T	-0.489476	0.00654	T	-0.464844	0.26074	T	0.0266240648645669	0.01491	T	0.812119	0.46368	T	0.24479432	0.47432	0.22206111	0.47037	0.24479432	0.47432	0.22206111	0.47036	-5.198	0.38921	T	.	.	0.185	0.39965	B	.	.	3.081184	0.41449	21.4	0.98076232480401482	0.38070	0.89830	0.50552	D	AEFGBHCI	0.458428	0.50945	N	-0.35824421981409	0.26971	1.476115	-0.249334711188377	0.29795	1.672183	0.999999184772539	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.25	2.47	0.29113	1.831000	0.38781	1.132000	0.24334	0.599000	0.40250	1.000000	0.71638	0.568000	0.25556	0.989000	0.64315	0.1672:0.5702:0.0:0.2626	3.956	0.08887	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.015152	0.006812	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1830.33	37	chr8	144510871	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=794;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.523;SOR=0.659	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1171	18	0	1	0
chr8	144512966	144512966	G	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.C2636A:p.P879H	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1468	53	1	0	55	0.0183885	.	.	YES	100790	not_specified|Baller-Gerold_syndrome|Rapadilino_syndrome|Rothmund-Thomson_syndrome_type_2|not_provided	MedGen:CN169374|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0064	0.00539137	0.0111	0.0069	0.0209	0	0.0009	0.0170	0.0317	0.0028	0.0056662	876	154602	rs137975310	0.0101	0.0100	0.0102	0.0099	0.0284	0.0099	0.0099	0.0248	0.0234	0.0048	0.0115	0.0130	0	0.0012	0.0284	0.0112	0.0114	0.0031	0.0089	0.0089	0.0093	0.0085	0.0157	0.0085	0.0083	0.0141	0.0134	0.0051	0.0307	0.0157	0.0144	0	0.0009	0.0306	0.0113	0.0137	0.0023	.	.	.	0.129	0.34837	T	0.39	0.34593	B	0.159	0.34693	B	.	.	.	.	.	.	.	1.525	0.38595	L	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.004400462	0.00090	T	.	.	.	.	.	.	.	0.739007817583	0.73667	0.32707399421941546	0.32620	.	.	0.322193324566	0.13753	T	0.027492	0.33267	T	-0.418621	0.01746	T	-0.363709	0.37622	T	.	.	.	0.310069	0.06017	T	0.034189038	0.03789	0.0702438	0.14899	0.03304768	0.03447	0.070746265	0.15067	-4.697	0.33367	T	.	.	0.082	0.09143	B	.;.	.;.	-0.192825	0.03128	0.501	0.58722281192310632	0.06058	0.34935	0.25184	N	AEFGBCI	0.070053	0.13892	N	.	.	.	.	.	.	0.999998398723936	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.96	0.48	0.16014	0.280000	0.18550	0.457000	0.18579	-0.244000	0.07312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1883:0.1438:0.5207:0.1473	2.446	0.04231	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1372.33	68	chr8	144512966	.	G	T	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1346;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.874;SOR=1.04	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,110,1692	18	0	1	0
chr8	144514995	144514995	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon9:c.C1561T:p.R521W	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	YES	240300	Baller-Gerold_syndrome|Rapadilino_syndrome|Rothmund-Thomson_syndrome_type_2|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0120870953539	.	0.000199681	0.0003	0	0	0.0003	0	1.755e-05	0.0014	0.0017	0.0002264	35	154602	rs555407951	0.0001	0.0001	7.363e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	5.042e-05	0	0.0007	1.889e-05	0.0002	0.0018	0.0001	0.0001	5.14e-05	0.0002	0.0017	7.088e-05	5.745e-05	0.0008	0.0006	4.813e-05	0	0	0	0	0	0.0136	4.411e-05	0	0.0017	.	.	.	0.003	0.79402	D	0.995	0.67487	D	0.846	0.60472	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.48596	.	.	.	.	.	.	.	0.052181005	0.05212	T	0.012087	0.30348	T	.	.	.	.	0.7477999819	0.74552	0.5781259291144815	0.57741	.	.	0.247867047787	0.03546	T	0.195758	0.55194	T	-0.276892	0.11000	T	-0.177776	0.56729	T	.	.	.	0.919108	0.70849	D	0.35669836	0.57584	0.29931393	0.55965	0.35669836	0.57584	0.29931393	0.55964	-4.879	0.35498	T	0.6141671991312679	0.68199	0.101	0.22318	B	.;.	.;.	3.448042	0.47999	22.5	0.78517561397804714	0.12335	0.65801	0.32859	D	AEFGBHCI	0.477631	0.52054	N	.	.	.	.	.	.	0.999999997810969	0.74766	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.195515	0.04268	0	.	.	5.51	4.63	0.57175	1.174000	0.31541	8.664000	0.77983	0.676000	0.76740	0.818000	0.29961	1.000000	0.68203	0.060000	0.15972	0.0:0.0:0.6765:0.3235	11.533	0.49877	900	0.24599	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.002941	0.000000	0.000000	0.003106	0.000000	0.02632	1664.33	118	chr8	144514995	.	G	A	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=757;ExcessHet=0;FS=3.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.568;SOR=0.378	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1263	18	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	YES	138904	Rapadilino_syndrome|Baller-Gerold_syndrome|not_provided|Rothmund-Thomson_syndrome_type_2|not_specified	MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	1229.33	127	chr8	144516364	.	G	A	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1843;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.611;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr8	144516629	144516629	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.G490A:p.E164K	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	834498	Inborn_genetic_diseases|Baller-Gerold_syndrome|RECQL4-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00441552648517	.	.	9.416e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs576735078	1.371e-06	1.368e-06	0	2.757e-06	3e-05	2.3e-07	9e-08	.	.	3e-05	0	0	0	0	0	0	1.66e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.92	0.02873	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.20660	.	.	.	.	.	.	.	0.07559669	0.11704	T	0.004416	0.10781	T	.	.	.	.	0.700418472154	0.69782	0.43195165882162967	0.43112	.	.	0.309955894947	0.11901	T	0.017879	0.14511	T	-0.27467	0.11242	T	-0.44893	0.27816	T	.	.	.	0.438556	0.12074	T	0.053513777	0.10138	0.119034976	0.28733	0.053513777	0.10137	0.119034976	0.28732	-4.282	0.27924	T	.	.	0.073	0.04806	B	.	.	0.203638	0.05883	2.321	0.59372116379862405	0.06209	0.06543	0.12556	N	AEFGBC	0.075528	0.15170	N	.	.	.	.	.	.	0.999998886231907	0.74766	0.287651	0.05010	1	0.194	0.04241	0	0.25417	0.05116	1	0.286311	0.05470	0	.	.	4.7	2.62	0.30337	0.046000	0.13919	-0.026000	0.12859	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8447:0.0:0.1553	8.498	0.32302	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1544.33	56	chr8	144516629	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=1175;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.28;SOR=0.572	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr8	144521065	144521065	C	A	exonic	LRRC14	.	nonsynonymous SNV	LRRC14:NM_014665:exon4:c.C1069A:p.Q357K,LRRC14:NM_001272036:exon5:c.C1069A:p.Q357K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0148807811488	.	.	1.66e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747178364	6.162e-06	6.156e-06	2.725e-06	9.633e-06	8.115e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	8.115e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.607	0.05517	T	0.52	0.10465	T	0.667	0.41107	P	0.207	0.37187	B	0.000059	0.53742	D	0.132879	0.617867	0.30805	N	1.765	0.45800	L	3.08	0.08460	T	-1.53	0.37178	N	0.379	0.42443	-1.0715	0.09086	T	0.027	0.11707	T	10	0.20729005	0.37020	T	0.014881	0.35280	T	0.119	0.33137	0.56	0.67958	0.328222422547	0.32431	0.42071366843750235	0.41987	0.887839185907	0.70081	0.477572977543	0.35722	T	0.095282	0.39589	T	-0.340234	0.05371	T	-0.489831	0.23409	T	0.171239838004112	0.18664	T	0.741226	0.36032	T	0.15130429	0.34402	0.10089765	0.24138	0.15130429	0.34402	0.10089765	0.24138	-6.707	0.51863	T	.	.	0.205	0.43989	B	.;.	.;.	2.539107	0.32839	19.16	0.90286846455567926	0.19555	0.45906	0.27642	N	AEFDGBCI	0.199296	0.32610	N	-0.234653745272503	0.31719	1.781497	-0.312027065373158	0.27709	1.539535	0.999999966321482	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.69	3.8	0.42887	1.827000	0.38740	4.806000	0.45005	0.599000	0.40250	0.295000	0.25279	1.000000	0.68203	0.360000	0.25886	0.1751:0.8249:0.0:0.0	11.951	0.52243	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2514.33	52	chr8	144521065	.	C	A	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.7;DP=898;ExcessHet=0;FS=14.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.188;SOR=1.351	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr8	144528883	144528883	C	T	exonic	C8orf82	.	nonsynonymous SNV	C8orf82:NM_001001795:exon1:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0768176784961	.	0.000199681	7.693e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs576814507	6.589e-06	1.163e-05	1.445e-06	1.187e-05	0.0001	3.1e-06	2.25e-06	6.19e-05	4.643e-05	0	0	0	0	0	0	0	0	0.0001	6.573e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.162	0.44029	T	0.604	0.22084	T	0.013	0.16609	B	0.017	0.18140	B	0.946574	0.08317	U	0.965358	1	0.08975	N	1.375	0.34280	L	.	.	.	-0.58	0.19297	N	0.1	0.14196	-0.9908	0.32398	T	0.021	0.08963	T	9	0.0497258	0.04603	T	0.076818	0.72623	D	0.020	0.03691	0.263	0.20788	0.0138822411134	0.00435	0.38472784841660507	0.38387	0.998755437533	0.74340	.	.	.	0.015184	0.14217	T	-0.15852	0.26989	T	-0.465479	0.26006	T	0.0334371195312871	0.02542	T	0.40366	0.10339	T	0.06939824	0.15199	0.11347337	0.27386	0.06939824	0.15199	0.11347337	0.27385	-5.013	0.36981	T	.	.	0.094	0.16099	B	.;.	.;.	0.919536	0.12943	9.451	0.98243554375309949	0.39503	0.33664	0.24883	N	AEFDGBHCI	0.079745	0.16113	N	-0.900762396031872	0.10824	0.5192024	-0.986978624898911	0.10077	0.505295	0.999999999949524	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	-1.28	0.08834	-0.456000	0.06829	-0.453000	0.09087	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2399:0.3757:0.2949:0.0896	3.217	0.06303	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1117.33	37	chr8	144528883	.	C	T	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=776;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=1.09;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	18	0	1	0
chr8	144774525	144774525	C	T	exonic	ZNF34	.	nonsynonymous SNV	ZNF34:NM_001286770:exon5:c.G304A:p.V102I,ZNF34:NM_001378029:exon5:c.G241A:p.V81I,ZNF34:NM_001286769:exon6:c.G361A:p.V121I,ZNF34:NM_030580:exon6:c.G424A:p.V142I,ZNF34:NM_001378027:exon7:c.G361A:p.V121I,ZNF34:NM_001378028:exon7:c.G361A:p.V121I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00209092900719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754943835	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.35165	T	0.425	0.13912	T	0.018	0.17786	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.3	0.06602	T	-0.25	0.11366	N	0.064	0.03956	-0.9171	0.45945	T	0.010	0.03765	T	9	0.0644331	0.08546	T	0.002091	0.03855	T	0.059	0.16972	0.229	0.15556	0.400613892164	0.39671	0.03575230458950295	0.03522	0.230293417628	0.25578	0.228218704462	0.01839	T	0.017308	0.26632	T	-0.341996	0.05251	T	-0.72903	0.04371	T	0.0224977357521921	0.00964	T	0.290771	0.06756	T	0.012012511	0.00026	0.020702796	0.00150	0.012012511	0.00026	0.020702796	0.00150	-5.305	0.39993	T	.	.	0.082	0.18372	B	.;.;.;.	.;.;.;.	0.227874	0.06097	2.539	0.92428593801339942	0.21848	0.07313	0.13335	N	AEFBI	0.032638	0.03724	N	-1.11594839788411	0.06359	0.2924998	-1.14035293994112	0.06942	0.3359115	0.982005966472814	0.30339	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	3.12	0.304	0.15044	-0.321000	0.08060	-0.406000	0.09378	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.0:0.525:0.1625:0.3125	4.760	0.12478	856	0.34373	.;.;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1765.33	33	chr8	144774525	.	C	T	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.551;DP=812;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.281;SOR=0.883	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	16867	16867	T	C	exonic	WASHC1	.	nonsynonymous SNV	WASHC1:NM_001378090:exon8:c.A893G:p.D298G,WASHC1:NM_182905:exon8:c.A893G:p.D298G	.	798	721	2	1	0	4	0.00276625	.	.	.	3338910	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0263	0	0	.	0.005	0	0.0027	6.5e-06	1	154602	rs781368945	0.0015	0.0015	0.0015	0.0015	0.0067	0.0014	0.0014	0.0041	0.0033	0.0007	0.0006	0	5.472e-05	0.0003	0.0067	0.0020	0.0016	0.0003	0.0016	0.0014	0.0018	0.0014	0.0022	0.0013	0.0012	0.0017	0.0015	0.0008	0	0.0021	0	0	0	0.0122	0.0022	0	0	.	.	.	0.253	0.23501	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	.	.	.	2.125	0.59049	M	.	.	.	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0070742667	0.00161	T	.	.	.	.	.	.	.	0.119812018005	0.11559	0.3171646470113426	0.31629	.	.	0.706002891064	0.68014	T	0.020644	0.16215	T	-0.163058	0.26291	T	-0.107835	0.62783	T	.	.	.	0.556944	0.19352	T	0.12773436	0.29883	0.24014801	0.49382	0.12773436	0.29883	0.24014801	0.49381	-2.859	0.08739	T	.	.	0.065	0.01834	B	.	.	1.178198	0.15685	12.03	0.73312765601463448	0.10283	0.04138	0.09621	N	AEFI	.	.	.	.	.	.	.	.	.	3.08722765023341E-5	0.03498	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0852691	0.19417	1.18	0.00647	0.13388	-0.201000	0.09466	-1.730000	0.04832	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.0:0.2788:0.0:0.7212	3.021	0.05709	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	159.59	3	chr9	16867	.	T	C	159.59	.	AC=2;AF=0.067;AN=30;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=0.3912;MLEAC=2;MLEAF=0.067;MQ=34.5;QD=31.92;SOR=3.611	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,16	14	1	0	4
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:35:99:.:.:471,534,1278:.	13	1	5	0
chr9	117475	117475	G	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C645G:p.F215L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.16587999655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.023	0.48186	D	0.812	0.03921	T	0.924	0.51285	P	0.827	0.59428	P	.	.	.	.	0.999896	0.19781	N	1.585	0.39878	L	-3.51	0.94693	D	-2.43	0.53258	N	0.038	0.01203	0.067	0.83568	D	0.772	0.92259	D	9	0.20349959	0.36508	T	0.16588	0.84463	D	0.286	0.60456	0.327	0.31034	0.716668160974	0.71417	0.16385004026512767	0.16305	.	.	0.789456069469	0.80359	T	0.002228	0.01623	T	-0.0542035	0.43806	T	-0.315636	0.43052	T	0.662082604887371	0.38987	D	0.39616	0.09972	T	0.15671062	0.35351	0.23206285	0.48356	0.15671062	0.35350	0.23206285	0.48355	-1.848	0.02656	T	.	.	0.628	0.70024	P	.	.	2.060003	0.26190	17.03	0.99597868395403555	0.74042	0.03640	0.08888	N	AEFBI	0.092972	0.18816	N	-0.423810767874598	0.24638	1.331687	-0.585282516879468	0.19877	1.068411	0.0634343615361828	0.15295	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.08	2.08	0.26079	0.031000	0.13598	0.559000	0.19493	0.489000	0.22316	0.007000	0.17678	0.164000	0.23286	0.381000	0.26357	0.0:0.0:1.0:0.0	9.342	0.37247	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1557.83	34	chr9	117475	.	G	C	1557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.469;DP=831;ExcessHet=0.119;FS=0.643;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.37;MQRankSum=1.43;QD=11.21;ReadPosRankSum=1.33;SOR=0.594	GT:AD:DP:GQ:PL	0/1:46,28:74:99:654,0,1354	17	0	2	0
chr9	117846	117846	A	T	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.T274A:p.S92T	.	225	1295	2	0	0	2	0.000771605	.	.	.	2828706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	0.0712247100022	0.0017	0.00119808	0.0034	0.0008	0.0003	0	0.0027	0.0053	0.0022	0.0014	0.0004269	66	154602	rs139668562	0.0040	0.0040	0.0040	0.0039	0.0048	0.0039	0.0039	0.0047	0.0047	0.0007	0.0006	0.0002	0	0.0026	0.0009	0.0048	0.0026	0.0010	0.0028	0.0028	0.0028	0.0027	0.0050	0.0025	0.0025	0.0045	0.0044	0.0007	0.0121	0.0007	0	0	0.0016	0.0034	0.0050	0.0005	0.0023	0.106	0.29688	T	0.328	0.18675	T	0.007	0.14184	B	0.013	0.16460	B	0.292807	0.14737	U	0.485871	1	0.08975	N	1.445	0.36358	L	-3.69	0.95317	D	-1.15	0.29525	N	0.052	0.02366	-0.3674	0.73040	T	0.614	0.86334	D	10	0.00567171	0.00126	T	0.071225	0.71212	D	0.156	0.40720	.	.	0.141422826196	0.13715	0.18755482420957773	0.18673	.	.	0.768952190876	0.77267	T	0.003482	0.02889	T	-0.450912	0.01116	T	-0.418838	0.31209	T	0.00067348318407312	0.00006	T	0.20008	0.02257	T	0.058113232	0.11651	0.07075862	0.15071	0.058113232	0.11651	0.07075862	0.15071	-4.09	0.25142	T	.	.	0.087	0.11172	B	.	.	-0.533198	0.01763	0.134	0.86152521825123407	0.16347	0.01086	0.04003	N	AEFBI	0.049693	0.08611	N	-1.22319489507703	0.04665	0.2110378	-1.30120221742447	0.04415	0.2081971	0.0104158161165711	0.12021	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	2.24	-0.621	0.10984	-0.826000	0.04536	-3.196000	0.02980	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6462:0.0:0.1427:0.2111	3.029	0.05732	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1113.33	47	chr9	117846	.	A	T	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1277;ExcessHet=0;FS=3.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.92;MQRankSum=-2.495;QD=9.2;ReadPosRankSum=-0.254;SOR=0.969	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	18	0	1	0
chr9	117991	117991	G	T	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C129A:p.S43R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0472444436458	.	.	3.337e-05	0	8.666e-05	0.0001	0	0	0	0.0001	6.5e-06	1	154602	rs770564766	1.37e-06	2.121e-05	2.727e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.347	0.17640	T	0.03	0.20002	B	0.006	0.12133	B	.	.	.	.	0.999887	0.19853	N	1.75	0.45442	L	-3.57	0.94904	D	-1.42	0.34992	N	0.136	0.13341	-0.4238	0.71267	T	0.597	0.85648	D	9	0.094540596	0.16818	T	0.047244	0.62833	D	0.119	0.33137	0.243	0.17677	0.159798565429	0.15598	0.23451748071704015	0.23366	.	.	0.591253340244	0.51671	T	0.015575	0.13037	T	-0.174628	0.24539	T	-0.30647	0.44037	T	0.1479651927948	0.16940	T	0.419458	0.11115	T	0.15211233	0.34547	0.1827614	0.41223	0.15211233	0.34546	0.1827614	0.41222	-2.407	0.05176	T	.	.	0.298	0.52833	B	.	.	1.160456	0.15492	11.89	0.90150108708754861	0.19429	0.04179	0.09678	N	AEFBI	0.147363	0.27102	N	-1.25192042927711	0.04274	0.1925945	-1.37452108171471	0.03525	0.1646297	0.0175857386895945	0.12967	0.446893	0.09132	0	0.578056	0.33634	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	1.75	-2.06	0.06894	0.528000	0.22711	-0.018000	0.12964	0.489000	0.22316	0.187000	0.24151	0.000000	0.08366	0.004000	0.06068	0.3454:0.2394:0.4152:0.0	2.926	0.05431	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	47	chr9	117991	.	G	T	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.716;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.69;MQRankSum=-5.675;QD=7.13;ReadPosRankSum=2.13;SOR=0.618	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,117,1755	18	0	1	0
chr9	121567	121567	T	A	exonic	CBWD1	.	nonsynonymous SNV	CBWD1:NM_001145356:exon14:c.A1031T:p.N344I,CBWD1:NM_018491:exon15:c.A1088T:p.N363I,CBWD1:NM_001145355:exon16:c.A980T:p.N327I	.	603	913	6	0	0	6	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	.	0.0159744	0.0098	0.0011	0.0550	0.0391	0.0079	0.0016	0.0067	0.0018	0.0009573	148	154602	rs141981893	0.0030	0.0031	0.0032	0.0027	0.0425	0.0029	0.0028	0.0409	0.0403	0.0004	0.0425	0.0009	0.0346	0.0061	0.0005	0.0003	0.0039	0.0019	0.0040	0.0042	0.0033	0.0048	0.0371	0.0038	0.0037	0.0328	0.0312	0.0008	0	0.0170	0.0017	0.0371	0.0067	0	0.0003	0.0033	0.0040	0.004	0.65419	D	0.076	0.51421	T	0.972	0.57405	D	0.885	0.62898	P	0.000000	0.84330	D	0.050232	1	0.81001	D	3.455	0.92281	M	2.11	0.19860	T	-5.01	0.82450	D	0.565	0.74280	-0.8565	0.51513	T	0.135	0.45029	T	10	0.009170234	0.00207	T	.	.	.	0.258	0.56959	.	.	0.526174771278	0.52262	0.062268376364465076	0.06166	.	.	0.564214527607	0.47861	T	0.094891	0.70642	T	-0.373797	0.03406	T	-0.283947	0.46399	T	0.043995979828565	0.04419	T	0.965703	0.92384	D	0.67332125	0.76611	0.47839704	0.69785	0.67332125	0.76612	0.47839704	0.69785	-8.873	0.69632	D	.	.	0.388	0.63071	A	.;.;.;.;.	.;.;.;.;.	4.527752	0.71055	25.6	0.99211622578463909	0.55594	0.96159	0.67803	D	AEFI	0.757345	0.69633	D	0.520339410941653	0.68294	5.19737	0.389247430327605	0.60902	4.283128	0.00361152661445483	0.10202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.571000	0.60593	7.810000	0.69404	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	9.583	0.38666	934	0.15400	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001252	0.000000	0.001370	0.000000	0.000000	0.000000	0.004065	0.000000	0.07895	4850.79	34	chr9	121567	.	T	A	4850.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.702;DP=1072;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.83;MQRankSum=0.321;QD=9.42;ReadPosRankSum=-0.934;SOR=0.692	GT:AD:DP:GQ:PL	0/1:153,51:204:99:912,0,4100	16	0	3	0
chr9	406999	406999	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon26:c.C3160T:p.R1054C,DOCK8:NM_001193536:exon27:c.C3256T:p.R1086C,DOCK8:NM_203447:exon28:c.C3460T:p.R1154C	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1486	35	1	0	37	0.0122964	.	.	.	407710	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency|.|not_specified|DOCK8-related_disorder	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|.|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.016795402292	0.0015	0.00239617	0.0026	0.0002	0.0021	0.0001	0.0008	0.0025	0.0022	0.0068	0.0023932	370	154602	rs34390308	0.0019	0.0019	0.0016	0.0021	0.0085	0.0018	0.0018	0.0066	0.0063	0.0002	0.0015	0.0249	0	0.0011	0.0085	0.0010	0.0029	0.0069	0.0019	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0001	0	0.0033	0.0242	0.0002	0.0008	0.0034	0.0015	0.0038	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049739	1	0.81001	D	1.155	0.29575	L	1.66	0.27486	T	-6.76	0.92736	D	0.833	0.82862	-1.0293	0.20681	T	0.158	0.49027	T	10	0.011115372	0.00244	T	0.016795	0.38225	T	0.288	0.60691	.	.	0.484109215787	0.48041	0.5377113857232877	0.53696	0.306616735053	0.32968	0.624718904495	0.56396	T	0.622668	0.88196	D	-0.235024	0.15989	T	-0.106786	0.62867	T	0.102144606949638	0.12591	T	0.950905	0.84591	D	0.74810517	0.80758	0.6437848	0.79179	0.72038245	0.79184	0.54444253	0.73669	-9.998	0.73900	D	0.5132293498190501	0.58668	0.216	0.50269	B	.;.;.;.	.;.;.;.	5.367910	0.90003	31	0.99947802293846078	0.99923	0.95127	0.63537	D	AEFBIJ	0.747506	0.68954	D	0.650964421836414	0.76433	6.485284	0.672967260541756	0.80332	7.275294	0.999985811417422	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	4.714000	0.61592	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.025	0.97519	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.015152	0.02632	1712.33	34	chr9	406999	.	C	T	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=767;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.51;SOR=0.825	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1387	18	0	1	0
chr9	441409	441409	G	A	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon39:c.G5047A:p.V1683I,DOCK8:NM_001193536:exon40:c.G5143A:p.V1715I,DOCK8:NM_203447:exon41:c.G5347A:p.V1783I	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1350282	Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive	MONDO:MONDO:0032654,MedGen:C4748969,OMIM:618282,Orphanet:641368	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0077163079828	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs532879343	1.026e-05	1.026e-05	8.167e-06	1.238e-05	5.974e-05	6.16e-06	4.89e-06	9.89e-06	4.56e-06	5.974e-05	0	0	0	0	0	8.093e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.486	0.11691	T	0.0	0.02946	B	0.0	0.04355	B	0.001376	0.39242	N	0.222920	0.999556	0.47544	D	-0.31	0.03598	N	2.29	0.17113	T	-0.91	0.24460	N	0.131	0.18376	-0.9804	0.34909	T	0.017	0.06902	T	10	0.057432145	0.06596	T	0.007716	0.20483	T	0.045	0.12272	0.291	0.25241	0.134241683229	0.13084	0.20255610780770006	0.20172	0.037617210021	0.03990	0.310823142529	0.12031	T	0.074662	0.34991	T	-0.483475	0.00706	T	-0.750727	0.03458	T	0.0700463060033693	0.08657	T	0.775222	0.40690	T	0.010578665	0.00008	0.019509764	0.00092	0.010578665	0.00008	0.019509764	0.00092	-2.556	0.06176	T	0.05907963912862639	0.01537	0.059	0.02370	B	.;.;.;.	.;.;.;.	0.875895	0.12489	9.021	0.47896460187815904	0.03953	0.24229	0.22328	N	AEFDBI	0.042095	0.06488	N	-0.937429927135172	0.09977	0.4746253	-0.808261587052807	0.14296	0.7462188	0.78698625102513	0.23947	0.706548	0.73137	0	0.724815	0.89359	0	0.597571	0.31856	0	0.478617	0.07155	0	.	.	5.36	1.61	0.22752	1.061000	0.30152	6.107000	0.53619	-0.116000	0.14526	0.933000	0.32380	1.000000	0.68203	0.005000	0.06747	0.5598:0.2902:0.15:0.0	5.192	0.14542	767	0.49651	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;.;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	35	chr9	441409	.	G	A	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.168;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.05263	4296.83	33	chr9	894044	.	A	G	4296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.457;DP=926;ExcessHet=0.119;FS=1.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.25;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	17	0	2	0
chr9	990212	990212	A	G	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.A626G:p.K209R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0154107370736	7.7e-05	.	8.258e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs143922008	5.609e-05	5.609e-05	5.173e-05	6.05e-05	7.284e-05	4.61e-05	4.236e-05	5.972e-05	5.461e-05	0	0	0	0	0	0	7.284e-05	1.656e-05	0	1.315e-05	1.313e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.051	0.55530	T	0.31	0.52727	T	0.533	0.37766	P	0.076	0.28435	B	0.000013	0.62929	D	0.110180	0.997166	0.43677	D	2.485	0.72352	M	1.56	0.29602	T	-1.04	0.54217	N	0.308	0.34767	-1.0678	0.09903	T	0.073	0.29643	T	10	0.19365114	0.35143	T	0.015411	0.36125	T	0.145	0.38592	.	.	0.688469797871	0.68580	0.2179509124866459	0.21711	0.355419079647	0.37306	0.56417542696	0.47857	T	0.154057	0.49518	T	-0.151605	0.28060	T	-0.44006	0.28801	T	0.631207168102264	0.37668	D	0.812919	0.47040	T	0.10952937	0.25895	0.15898986	0.37101	0.10952937	0.25895	0.15898986	0.37100	-3.177	0.12202	T	.	.	0.082	0.19276	B	.;.	.;.	2.855469	0.37709	20.6	0.98527275969795469	0.42545	0.97011	0.72175	D	AEBI	0.656150	0.62824	D	-0.0980296154248294	0.37478	2.181006	-0.113165004693253	0.34859	2.009949	0.998708686458729	0.37498	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	6.680000	0.74351	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	1.0:0.0:0.0:0.0	14.393	0.66558	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1698.33	35	chr9	990212	.	A	G	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=945;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.062;SOR=0.771	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1427	18	0	1	0
chr9	1056443	1056443	G	C	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G334C:p.A112P,DMRT2:NM_181872:exon4:c.G856C:p.A286P	.	.	.	.	.	.	.	.	.	.	.	3194160	DMRT2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00869519058902	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs749118381	1.163e-05	1.163e-05	5.445e-06	1.788e-05	0.0002	7.08e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.136	0.34009	T	0.009	0.15093	B	0.007	0.12992	B	0.154617	0.17856	N	0.559147	0.981791	0.81001	D	2.085	0.57729	M	1.69	0.27032	T	-0.92	0.24676	N	0.167	0.31027	-1.0867	0.06102	T	0.051	0.21883	T	10	0.08469528	0.14221	T	0.008695	0.22952	T	0.018	0.03083	0.35	0.34760	0.185906805712	0.18197	0.5451939736961674	0.54445	0.00676594994391	0.00596	0.354502111673	0.18583	T	0.227665	0.59302	T	-0.427563	0.01534	T	-0.555749	0.16777	T	0.054455020957934	0.06266	T	0.682432	0.29103	T	0.13567358	0.31479	0.13004152	0.31256	0.13567358	0.31479	0.13004152	0.31255	-3.022	0.10420	T	.	.	0.101	0.18746	B	.;.;.	.;.;.	1.518322	0.19495	14.29	0.98843357536655041	0.47169	0.83775	0.42871	D	AEFBI	0.683522	0.64618	D	-0.415055097620292	0.24940	1.350336	-0.347390146042316	0.26589	1.469695	0.512050691012532	0.21027	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	2.62	0.30337	0.992000	0.29268	2.585000	0.33436	0.618000	0.50648	0.864000	0.30684	0.964000	0.29435	0.347000	0.25591	0.1362:0.1183:0.6235:0.122	4.917	0.13205	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1897.33	38	chr9	1056443	.	G	C	1897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.901;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr9	1056479	1056479	G	A	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G370A:p.D124N,DMRT2:NM_181872:exon4:c.G892A:p.D298N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0203861764419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.152	0.34241	T	0.931	0.51899	P	0.444	0.45865	B	0.000206	0.47681	D	0.139173	0.999999	0.81001	D	1.735	0.44892	L	1.74	0.26301	T	-1.41	0.34795	N	0.282	0.36674	-1.0154	0.25207	T	0.132	0.44425	T	10	0.35925543	0.52598	T	0.020386	0.42975	T	0.097	0.27909	0.22	0.14224	0.528109557721	0.52457	0.18303875116768045	0.18222	0.0298914109746	0.03076	0.475786834955	0.35478	T	0.246695	0.61620	T	-0.166989	0.25690	T	-0.477645	0.24696	T	0.937410891056061	0.60718	D	0.941306	0.78426	D	0.21663357	0.44127	0.24763617	0.50298	0.21663357	0.44127	0.24763617	0.50297	-3.458	0.15849	T	.	.	0.151	0.39545	B	.;.;.	.;.;.	4.296966	0.65572	24.8	0.99843756626027469	0.92403	0.98942	0.88948	D	AEFBI	0.916403	0.88257	D	0.604740858467949	0.73474	5.971982	0.605067298949451	0.75308	6.287455	0.999999999953563	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	9.356000	0.96506	11.905000	0.99459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.0:0.0:1.0:0.0	19.073	0.93131	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1973.33	38	chr9	1056479	.	G	A	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=872;ExcessHet=0;FS=6.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.096;SOR=0.416	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr9	2039776	2039776	-	CAGCAG	exonic	SMARCA2	.	nonframeshift insertion	SMARCA2:NM_001289396:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_001289397:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_003070:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ,SMARCA2:NM_139045:exon4:c.666_667insCAGCAG:p.Q238_P239insQQ	Nicolaides-Baraitser syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	428986	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs745316697	0.0019	0.0020	0.0020	0.0019	0.0310	0.0019	0.0019	0.0295	0.0288	0.0310	0.0026	0.0198	0.0011	0.0002	0.0029	0.0007	0.0042	0.0012	0.0099	0.0099	0.0103	0.0094	0.0304	0.0095	0.0093	0.0290	0.0284	0.0304	0.0011	0.0043	0.0234	0.0002	9.647e-05	0.0137	0.0009	0.0120	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7911.62	33	chr9	2039776	.	A	ACAGCAG	7911.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=982;ExcessHet=4.0268;FS=2.482;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.986;SOR=0.515	GT:AD:DP:GQ:PL	0/0:21,0:58:99:1348,1411,2203	18	0	1	0
chr9	2039777	2039797	CAGCAGCAGCAGCAGCAGCAG	-	exonic	SMARCA2	.	nonframeshift deletion	SMARCA2:NM_001289396:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_001289397:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_003070:exon4:c.667_687del:p.Q232_Q238del,SMARCA2:NM_139045:exon4:c.667_687del:p.Q232_Q238del	Nicolaides-Baraitser syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579690	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333821975	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	0.0002	0.0003	0	0	0.0002	0.0016	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	0	0	0.0002	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7911.62	33	chr9	2039776	.	ACAGCAGCAGCAGCAGCAGCAG	A	7911.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=982;ExcessHet=4.0268;FS=2.482;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.986;SOR=0.515	GT:AD:DP:GQ:PL	0/0:21,0:58:99:1348,1411,2203	18	0	1	0
chr9	2039793	2039793	A	0	exonic	SMARCA2	.	.	.	Nicolaides-Baraitser syndrome, Autosomal dominant	26	1377	105	9	5	128	0.0427529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	882.43	44	chr9	2039793	.	A	*	882.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.133;DP=919;ExcessHet=0.119;FS=2.951;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6;ReadPosRankSum=-0.299;SOR=0.485	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,111,1800	18	0	1	0
chr9	2639898	2639898	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001018056:exon3:c.A242G:p.N81S,VLDLR:NM_001322225:exon3:c.A242G:p.N81S,VLDLR:NM_001322226:exon3:c.A242G:p.N81S,VLDLR:NM_003383:exon3:c.A242G:p.N81S	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	425841	not_provided|not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.428	0.0153376932889	0.0015	0.00239617	0.0020	0.0002	0.0010	0.0001	0	0.0016	0.0055	0.0071	0.0018823	291	154602	rs140526335	0.0018	0.0018	0.0016	0.0019	0.0072	0.0017	0.0017	0.0067	0.0066	0.0003	0.0013	0.0016	7.557e-05	0.0001	0.0062	0.0015	0.0023	0.0072	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0011	0.0055	0.0049	0.0006	0	0.0014	0.0012	0	9.429e-05	0	0.0017	0.0014	0.0075	0.153	0.25255	T	0.142	0.33330	T	0.024	0.20614	B	0.034	0.22546	B	0.000024	0.55875	D	0.000000	0.999878	0.81001	D	0.39	0.12200	N	-3.79	0.95663	D	-2.86	0.65171	D	0.19	0.25130	0.252	0.86785	D	0.727	0.90669	D	10	0.010469168	0.00233	T	0.015338	0.36015	T	0.428	0.73517	.	.	0.776578565586	0.77452	0.44845219494177235	0.44763	0.0983170490784	0.11101	0.365291237831	0.20153	T	0.471293	0.81675	T	-0.338618	0.05485	T	-0.255313	0.49289	T	0.0443868002262097	0.04490	T	0.915608	0.69895	D	0.052636717	0.09847	0.081603274	0.18558	0.04889718	0.08596	0.07262831	0.15692	-2.219	0.04394	T	.	.	0.072	0.22464	B	.;.;.	.;.;.	3.304682	0.45380	22.1	0.99234005145777393	0.56310	0.88098	0.47879	D	AEFDGBCI	0.511179	0.53992	D	0.00406014141867189	0.42039	2.525572	0.215436882139292	0.50704	3.259653	0.999997596077997	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.92	5.92	0.95557	4.492000	0.60054	7.124000	0.57604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9222:0.0:0.0778:0.0	10.959	0.46587	789	0.46346	EGF-like domain;.;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.013587	0.011696	0.000000	0.000000	0.000000	0.007576	0.02632	2245.33	34	chr9	2639898	.	A	G	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.231;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.413;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1366	18	0	1	0
chr9	2645645	2645645	A	G	exonic	VLDLR	.	nonsynonymous SNV	VLDLR:NM_001322225:exon9:c.A1261G:p.I421V,VLDLR:NM_001322226:exon9:c.A1261G:p.I421V,VLDLR:NM_001018056:exon10:c.A1384G:p.I462V,VLDLR:NM_003383:exon10:c.A1384G:p.I462V	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0302226691851	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770913305	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.28148	T	0.179	0.29540	T	0.126	0.32852	B	0.094	0.37572	B	0.000048	0.53742	D	0.000000	0.997039	0.44019	D	-0.695	0.01866	N	-2.75	0.90792	D	0.42	0.03352	N	0.221	0.31140	-0.0042	0.82169	T	0.526	0.82380	D	10	0.22044101	0.38740	T	0.030223	0.52582	D	0.348	0.66956	0.353	0.35246	0.677873887768	0.67513	0.3531276897412376	0.35226	0.092802932358	0.10482	0.605734944344	0.53715	T	0.071146	0.34135	T	-0.0962783	0.37041	T	-0.139405	0.60169	T	0.195474455378285	0.20162	T	0.912409	0.68863	D	0.053821295	0.10240	0.086027846	0.19904	0.053821295	0.10240	0.086027846	0.19903	-4.69	0.33956	T	0.18541029549671084	0.24091	0.083	0.09385	B	.;.	.;.	3.003015	0.40130	21.1	0.99639747545584478	0.76571	0.95224	0.63898	D	AEDGBHCI	0.679164	0.64329	D	0.045906771701356	0.43953	2.678419	0.274458908820671	0.54053	3.571468	0.99999999998456	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	6.07	6.07	0.98675	5.931000	0.69831	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.629	0.84866	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1599.33	78	chr9	2645645	.	A	G	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=865;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.154;SOR=0.923	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr9	2807860	2807860	G	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon17:c.C1768G:p.L590V	.	435	1086	1	0	0	1	0.000460193	.	.	.	2339417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.018292513745	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs201493570	7.801e-05	8.072e-05	6.4e-05	9.216e-05	0.0005	6.602e-05	6.144e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.52e-05	0	0.0005	6.116e-05	0.0002	0.0003	1.972e-05	1.97e-05	2.571e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.782	0.44333	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	0.946822	0.37543	D	.	.	.	2.47	0.14783	T	-1.73	0.41046	N	0.593	0.61256	-1.0446	0.15942	T	0.059	0.24723	T	10	0.4792884	0.60334	T	0.018293	0.40304	T	0.211	0.50185	0.721	0.85585	0.0551355673512	0.04727	0.35909996705142294	0.35823	0.00447420915356	0.00396	0.493885040283	0.37979	T	0.017349	0.14172	T	-0.231104	0.16503	T	-0.277592	0.47050	T	0.0574609728249047	0.06763	T	0.875013	0.58582	D	0.44020528	0.63415	0.22844805	0.47887	0.44020528	0.63416	0.22844805	0.47886	-7.048	0.54383	T	.	.	0.158	0.34840	B	.	.	2.120741	0.26994	17.31	0.99391647996392574	0.62383	0.81371	0.40788	D	AEFBI	0.121217	0.23577	N	0.00712089959041916	0.42179	2.536518	-0.0259894089842602	0.38545	2.272439	0.999680922567867	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.53	0.22224	0.252000	0.18046	1.255000	0.25194	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.731000	0.35132	0.355:0.0:0.645:0.0	11.046	0.47078	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1354.33	33	chr9	2807860	.	G	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.458;DP=764;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.27;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr9	2812337	2812337	A	G	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon14:c.T1295C:p.I432T	.	442	1079	0	1	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0123265221805	7.7e-05	0.000399361	0.0002	0	0	0.0009	0	0.0003	0	6.064e-05	0.0002135	33	154602	rs150766325	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0036	0.0034	0	0	0.0031	0.0041	1.876e-05	0.0005	4.225e-05	0.0003	5.877e-05	0.0001	0.0001	0.0002	0.0001	0.0010	8.659e-05	7.252e-05	0.0004	0.0002	0	0	0	0.0029	0.0010	0	0	5.881e-05	0.0005	0	0.003	0.68238	D	0.015	0.61642	D	0.975	0.58077	D	0.77	0.56828	P	0.000000	0.84330	D	0.088362	0.999993	0.58761	D	.	.	.	2.36	0.16089	T	-4.05	0.74504	D	0.801	0.79696	-1.1231	0.02144	T	0.063	0.26314	T	10	0.04796514	0.04185	T	0.012327	0.30806	T	0.251	0.56024	.	.	0.190952846119	0.18690	0.6171176629959607	0.61643	0.00422031618928	0.00371	0.597019314766	0.52483	T	0.152948	0.49358	T	-0.135867	0.30551	T	-0.0902097	0.64146	T	0.14886119844207	0.17012	T	0.847215	0.52823	T	0.7516476	0.80964	0.6571458	0.79922	0.7516476	0.80965	0.6571458	0.79923	-7.096	0.54732	T	.	.	0.215	0.44410	B	.	.	4.655174	0.74246	26.1	0.99635728812327551	0.76326	0.99316	0.94394	D	AEFBI	0.719410	0.67030	D	0.517330808666098	0.68115	5.17293	0.563115428636858	0.72317	5.790466	0.999999999992837	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	8.492000	0.90309	9.402000	0.80650	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.896	0.79116	835	0.38313	Pumilio homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	33	chr9	2812337	.	A	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1333	18	0	1	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S,GLIS3:NM_001042413:exon4:c.C1090T:p.P364S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	308470	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|GLIS3-related_disorder|Monogenic_diabetes	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|.|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001012	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2361.81	39	chr9	4118388	.	G	A	2361.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.73;SOR=1.263	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	1	0	0
chr9	5123096	5123096	T	C	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon20:c.T2705C:p.I902T,JAK2:NM_001322195:exon22:c.T3152C:p.I1051T,JAK2:NM_001322196:exon22:c.T3152C:p.I1051T,JAK2:NM_001322194:exon23:c.T3152C:p.I1051T,JAK2:NM_001322198:exon23:c.T1937C:p.I646T,JAK2:NM_001322199:exon23:c.T1937C:p.I646T,JAK2:NM_004972:exon23:c.T3152C:p.I1051T	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.056332628929	7.7e-05	.	6.613e-05	0.0003	0	0	0	1.502e-05	0	0.0002	5.17e-05	8	154602	rs375671491	7.425e-05	7.525e-05	6.155e-05	8.708e-05	0.0004	6.279e-05	5.836e-05	0.0003	0.0003	0.0001	0	0	2.523e-05	0	0	5.868e-05	4.991e-05	0.0004	9.21e-05	9.194e-05	6.433e-05	0.0001	0.0008	5.534e-05	4.37e-05	0.0003	0.0002	0.0002	0	0	0	0	0	0	2.945e-05	0	0.0008	0.042	0.41637	D	0.124	0.35455	T	0.001	0.07471	B	0.009	0.14300	B	0.000000	0.84330	D	0.044997	0.991735	0.45197	D	0.855	0.21307	L	-2.45	0.88847	D	0.96	0.01488	N	0.524	0.55366	-0.3832	0.72552	T	0.434	0.77472	T	10	0.15145755	0.28628	T	0.056333	0.66566	D	0.295	0.61502	.	.	0.736380877953	0.73402	0.48369765660785324	0.48289	0.237010670615	0.26238	0.727767825127	0.71180	T	0.45442	0.79398	T	-0.190171	0.22232	T	-0.203527	0.54312	T	0.0761400833887401	0.09487	T	0.808619	0.45852	T	0.40771002	0.61263	0.1574455	0.36815	0.40771002	0.61263	0.1574455	0.36814	-5.47	0.41587	T	0.20563258869468304	0.27439	0.129	0.27672	B	.	.	3.430424	0.47670	22.5	0.98073907884453959	0.38046	0.92127	0.55004	D	AEFBI	0.430811	0.49336	N	-0.115380005936799	0.36722	2.126512	0.0949412734907236	0.44294	2.713936	0.998760746273665	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	5.136000	0.64623	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0786:0.1559:0.7655	6.617	0.21975	670	0.60992	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain|Janus kinase 2, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1247.33	33	chr9	5123096	.	T	C	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=721;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.048;SOR=0.831	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1354	18	0	1	0
chr9	5335325	5335325	G	A	exonic	RLN1	.	stopgain	RLN1:NM_006911:exon2:c.C484T:p.R162X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.301e-05	0	0	0	0	6.004e-05	0	0	4.53e-05	7	154602	rs567396544	4.658e-05	4.652e-05	4.907e-05	4.406e-05	6.024e-05	3.732e-05	3.416e-05	2.286e-05	2.023e-05	6.024e-05	0	0.0009	2.521e-05	0	0	3.149e-05	8.295e-05	2.334e-05	3.949e-05	3.941e-05	3.859e-05	4.042e-05	4.838e-05	1.718e-05	1.131e-05	1.171e-05	6.25e-06	4.838e-05	0	0	0.0003	0	0	0	4.412e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000419	0.00596	N	4.831150	0.999908	0.50806	D	.	.	.	.	.	.	.	.	.	0.617	0.63289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.134612	0.30753	T	-0.248991	0.49916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.171031	0.62719	24.5	0.68042334596722631	0.08537	0.00367	0.01872	N	AEFDBI	0.031371	0.03344	N	-0.699991851144929	0.16022	0.8126871	-1.18183508665137	0.06213	0.2983609	0.986161168120932	0.31015	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.23	-4.47	0.03278	-2.205000	0.01316	.	.	-1.090000	0.01539	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2227:0.4049:0.2309:0.1415	1.926	0.03117	906	0.23090	Insulin-like|Insulin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1728.33	33	chr9	5335325	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=731;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.253;SOR=0.547	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1742,0,1206	18	0	1	0
chr9	5765705	5765705	G	C	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon20:c.G2933C:p.S978T,RIC1:NM_001135920:exon21:c.G3044C:p.S1015T,RIC1:NM_020829:exon21:c.G3044C:p.S1015T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.00929231836231	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs770037642	1.505e-05	1.505e-05	2.178e-05	8.25e-06	0.0002	9.85e-06	8.41e-06	4.358e-05	2.767e-05	0	0.0001	0.0002	0	0	0.0002	3.597e-06	6.623e-05	2.319e-05	2.628e-05	2.627e-05	5.139e-05	0	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.004	0.91255	D	0.048	0.49942	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	.	.	.	-1.8	0.42384	N	0.531	0.56576	-0.4733	0.69609	T	0.348	0.71233	T	9	0.29450607	0.47022	T	0.009292	0.24389	T	0.245	0.55201	0.145	0.04843	0.206203607746	0.20212	0.500145256871519	0.49935	.	.	0.748485922813	0.74224	T	0.085356	0.37482	T	0.132472	0.67603	D	0.0493645	0.73542	D	0.637494564056396	0.37931	D	0.933207	0.74971	D	0.47927323	0.65856	0.6243248	0.78105	0.47927323	0.65857	0.6243248	0.78106	-8.473	0.69318	D	.	.	0.363	0.57386	A	.;.;.	.;.;.	4.193182	0.63219	24.6	0.99507544942235171	0.68440	0.99469	0.96414	D	AEFBI	0.885022	0.81519	D	0.741117835078597	0.82326	7.734927	0.798409450577968	0.89684	10.07697	0.999999999999993	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	9.602000	0.97623	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.595	0.99442	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2166.33	35	chr9	5765705	.	G	C	2166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=813;ExcessHet=0;FS=2.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.358;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr9	5769034	5769034	C	T	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon21:c.C3091T:p.R1031W,RIC1:NM_001135920:exon22:c.C3202T:p.R1068W,RIC1:NM_020829:exon22:c.C3202T:p.R1068W	.	429	1088	4	1	0	6	0.00274977	.	.	.	3319525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00903044626649	0.0002	0.000199681	0.0001	9.932e-05	0.0004	0	0	9.087e-05	0	6.064e-05	9.06e-05	14	154602	rs61744825	9.646e-05	9.645e-05	0.0001	9.076e-05	0.0017	8.31e-05	7.85e-05	0.0009	0.0007	0.0002	0.0004	0.0008	0	0	0.0017	6.115e-05	0.0002	3.478e-05	9.196e-05	9.188e-05	0.0001	6.716e-05	0.0003	5.526e-05	4.363e-05	0.0001	8.284e-05	2.407e-05	0	0.0003	0.0003	0	0	0.0068	5.88e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	.	.	.	-6.37	0.92217	D	0.893	0.89353	-0.4631	0.69964	T	0.378	0.73564	T	9	0.5035053	0.61685	D	0.00903	0.23774	T	0.367	0.68670	.	.	0.375026046212	0.37117	0.8652784931447652	0.86492	.	.	0.833667099476	0.87125	D	0.332945	0.70286	T	0.210493	0.74876	D	0.380738	0.91457	D	0.410001183346424	0.29318	T	0.988826	0.97187	D	0.7668469	0.81859	0.71939933	0.83434	0.7668469	0.81860	0.71939933	0.83435	-9.901	0.73316	D	.	.	0.919	0.84145	P	.;.;.	.;.;.	5.339931	0.89600	31	0.9990618819864705	0.97651	0.97715	0.76612	D	AEFBI	0.773583	0.70755	D	0.456801805390537	0.64591	4.716994	0.537640022169957	0.70541	5.52052	0.999999999999976	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	4.491000	0.60048	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.095	0.97838	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	939.33	37	chr9	5769034	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=719;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.745;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	18	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.1053	4328.41	40	chr9	5832840	.	C	T	4328.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.166;DP=805;ExcessHet=0.0101;FS=1.301;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.495;SOR=0.869	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	16	1	2	0
chr9	5921944	5921944	G	A	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.C4052T:p.T1351I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00332730210017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480019156	7.526e-06	8.209e-06	9.53e-06	5.501e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.267	0.23845	T	0.571	0.38591	P	0.225	0.38015	B	0.075435	0.21224	N	0.376757	0.994993	0.23396	N	1.67	0.42885	L	.	.	.	-1.02	0.26843	N	0.097	0.10483	-0.9709	0.37009	T	0.083	0.32585	T	9	0.1434603	0.27237	T	0.003327	0.07421	T	0.063	0.18251	0.197	0.10975	0.255270683199	0.25152	0.10049207211185672	0.09980	.	.	0.321954548359	0.13718	T	0.00681	0.06237	T	-0.182022	0.23436	T	-0.499238	0.22427	T	0.386143445968628	0.28418	T	0.767723	0.39623	T	0.18296212	0.39540	0.15345758	0.36059	0.18296212	0.39540	0.15345758	0.36059	-4.123	0.26185	T	.	.	0.087	0.21503	B	.;.	.;.	2.117808	0.26958	17.30	0.99578408659811013	0.72861	0.96691	0.70426	D	AEFDGBI	.	.	.	-0.0352007114126356	0.40265	2.388334	0.0253390918989087	0.40896	2.447975	0.999999997524792	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.38	4.38	0.52019	2.206000	0.42416	.	.	0.676000	0.76740	0.641000	0.28093	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	17.110	0.86548	355	0.85216	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2395.33	44	chr9	5921944	.	G	A	2395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.466;DP=1154;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.33;SOR=0.843	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr9	5922071	5922071	T	C	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.A3925G:p.S1309G	.	429	1080	13	0	0	13	0.00598251	.	.	.	2361867	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.00237627781726	0.0010	0.000798722	0.0013	0.0001	0.0008	0	0.0003	0.0017	0.0022	0.0019	0.0012548	194	154602	rs151185112	0.0012	0.0012	0.0011	0.0013	0.0095	0.0011	0.0011	0.0075	0.0068	0.0005	0.0008	0.0024	2.519e-05	0.0004	0.0095	0.0012	0.0014	0.0022	0.0012	0.0012	0.0012	0.0011	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0011	0.0020	0	0.0005	0.0068	0.0017	0.0038	0.0029	0.228	0.18434	T	0.09	0.40586	T	0.001	0.07471	B	0.004	0.10090	B	0.034346	0.24781	N	0.364204	0.999814	0.21449	N	0	0.06538	N	.	.	.	-0.23	0.11008	N	0.122	0.11340	-1.0451	0.15796	T	0.064	0.26349	T	9	0.00823465	0.00187	T	0.002376	0.04618	T	0.016	0.02506	.	.	0.110078149338	0.10416	0.17518584630704787	0.17437	.	.	0.284916877747	0.08187	T	0.018169	0.14695	T	-0.501657	0.00560	T	-0.500156	0.22331	T	0.00261522291644604	0.00027	T	0.671933	0.28057	T	0.21175131	0.43508	0.065815784	0.13393	0.21175131	0.43508	0.065815784	0.13393	-4.558	0.31716	T	.	.	0.064	0.02733	B	.;.	.;.	1.667714	0.21262	15.12	0.9744485408584963	0.33997	0.88508	0.48468	D	AEFDGBI	.	.	.	-0.499270285281523	0.22105	1.177967	-0.383460786059493	0.25489	1.402083	0.996339373411868	0.34675	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.64	1.03	0.19161	1.785000	0.38315	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.343:0.0:0.657	8.651	0.33197	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.006098	0.007576	0.02632	4066.33	44	chr9	5922071	.	T	C	4066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.924;DP=1165;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.013;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800:.	18	0	1	0
chr9	5922080	5922080	C	G	exonic	KIAA2026	.	nonsynonymous SNV	KIAA2026:NM_001017969:exon8:c.G3916C:p.V1306L	.	426	1083	13	0	0	13	0.00596604	.	.	.	2366325	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00183077925846	0.0010	0.000798722	0.0013	0.0001	0.0008	0	0.0003	0.0017	0.0022	0.0019	0.0012548	194	154602	rs140343430	0.0012	0.0012	0.0011	0.0013	0.0095	0.0011	0.0011	0.0075	0.0068	0.0004	0.0008	0.0024	2.52e-05	0.0004	0.0095	0.0012	0.0014	0.0022	0.0012	0.0012	0.0012	0.0011	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0011	0.0020	0	0.0005	0.0068	0.0017	0.0038	0.0029	1.0	0.00964	T	0.534	0.10750	T	0.0	0.02946	B	0.0	0.01387	B	0.041229	0.23971	N	0.207411	0.999789	0.20372	N	-0.805	0.01590	N	.	.	.	-0.16	0.09965	N	0.045	0.01740	-0.9667	0.37874	T	0.020	0.08407	T	9	0.006395161	0.00145	T	0.001831	0.03167	T	0.036	0.09122	0.139	0.04277	0.0551355673512	0.04727	0.05598272539403267	0.05539	.	.	0.273026227951	0.06539	T	0.011168	0.09998	T	-0.625506	0.00102	T	-0.678057	0.07103	T	0.00280428251008959	0.00029	T	0.712529	0.32403	T	0.027975917	0.02066	0.03423232	0.02454	0.027975917	0.02066	0.03423232	0.02453	-3.728	0.19732	T	.	.	0.059	0.04975	B	.;.	.;.	0.289452	0.06659	3.158	0.71003590453837062	0.09483	0.78022	0.38434	D	AEFDGBI	.	.	.	-1.15406172627164	0.05713	0.2611852	-0.9916215026964	0.09973	0.499384	0.998863873923978	0.37845	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.64	2.26	0.27418	1.716000	0.37601	.	.	-0.785000	0.03297	0.965000	0.33920	1.000000	0.68203	0.326000	0.25110	0.5693:0.1551:0.0:0.2756	5.913	0.18281	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.009511	0.017544	0.000000	0.017241	0.006098	0.007576	0.02632	4091.33	44	chr9	5922080	.	C	G	4091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=1168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=-0.713;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800:.	18	0	1	0
chr9	6610195	6610195	T	C	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon4:c.A632G:p.Y211C	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	955882	Glycine_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.320	0.0685843260265	7.7e-05	.	0.0002	0.0004	0.0004	0	0	5.135e-05	0	0.0004	7.76e-05	12	154602	rs139931025	3.568e-05	3.557e-05	3.002e-05	4.14e-05	0.0004	2.77e-05	2.509e-05	0.0002	0.0002	0.0004	4.533e-05	0	0	0	0	6.307e-06	3.321e-05	0.0003	5.257e-05	5.91e-05	3.854e-05	6.726e-05	0.0002	2.557e-05	1.83e-05	7.892e-05	5.588e-05	0.0002	0	6.545e-05	0	0	0	0	0	0	0	0.151	0.24564	T	0.166	0.30828	T	0.0	0.02946	B	0.006	0.12133	B	0.000155	0.49130	D	0.241301	0.80554	0.34569	D	-0.145	0.04423	N	-3.76	0.95561	D	-4.43	0.77554	D	0.365	0.40665	0.076	0.83737	D	0.675	0.88755	D	10	0.19413534	0.35212	T	0.068584	0.70491	D	0.320	0.64215	.	.	0.906135531604	0.90520	0.765307007448725	0.76479	0.0538137297912	0.05943	0.369851768017	0.20810	T	0.705098	0.91542	D	-0.123088	0.32621	T	-0.112862	0.62382	T	0.0763925998451153	0.09519	T	0.922608	0.76842	D	0.40094858	0.60798	0.19922951	0.43794	0.40094858	0.60798	0.19922951	0.43793	-6.395	0.49471	T	0.1961041321814488	0.25892	0.075	0.21353	B	.;.	.;.	2.203039	0.28101	17.68	0.88600264245079752	0.18105	0.92549	0.55973	D	AEFDBI	0.522521	0.54650	D	-0.559938609637775	0.20173	1.061524	-0.423783640413203	0.24301	1.330001	0.996045792155481	0.34489	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.579976	0.35079	0	.	.	5.38	3.0	0.33773	3.250000	0.51146	2.812000	0.34913	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.1259:0.0689:0.0:0.8052	7.605	0.27265	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr9	6610195	.	T	C	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=678;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.088;SOR=1.129	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr9	6990510	6990510	C	T	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001146695:exon12:c.C1772T:p.A591V,KDM4C:NM_001146696:exon12:c.C1838T:p.A613V,KDM4C:NM_001304339:exon12:c.C1772T:p.A591V,KDM4C:NM_001353997:exon12:c.C1772T:p.A591V,KDM4C:NM_001353998:exon12:c.C1772T:p.A591V,KDM4C:NM_015061:exon12:c.C1772T:p.A591V,KDM4C:NM_001353999:exon13:c.C461T:p.A154V,KDM4C:NM_001354000:exon13:c.C461T:p.A154V,KDM4C:NM_001354001:exon13:c.C461T:p.A154V	.	434	1085	3	0	0	3	0.00138058	.	.	.	3445336	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.0125152651248	0.0002	0.000199681	0.0002	0	8.831e-05	0	0	0.0003	0	0.0003	0.0001552	24	154602	rs151291155	0.0001	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0004	0.0001	0.0002	0.0007	0	0	0.0007	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.671e-05	6.36e-05	7.929e-05	6.009e-05	0	0	0.0001	0.0006	0	0.0002	0.0034	0.0001	0	0.0002	0.296	0.18498	T	0.234	0.33894	T	0.077	0.24313	B	0.024	0.20255	B	0.002452	0.36537	N	0.294931	0.997269	0.81001	D	1.475	0.37068	L	0.66	0.52416	T	-1.58	0.38151	N	0.135	0.22870	-1.0844	0.06517	T	0.078	0.31224	T	10	0.028247267	0.00959	T	0.012515	0.31146	T	0.033	0.08068	.	.	0.518697010188	0.51514	0.32115703515466926	0.32028	0.0412125781724	0.04422	0.400769472122	0.25176	T	0.009558	0.15610	T	-0.433413	0.01414	T	-0.521952	0.20097	T	0.0298135883694447	0.01960	T	0.878612	0.59601	D	0.030866431	0.02824	0.04018472	0.04286	0.030866431	0.02823	0.04018472	0.04285	-2.741	0.16854	T	.	.	0.093	0.14842	B	.;.;.;.;.	.;.;.;.;.	2.697219	0.35225	19.84	0.99031583058860395	0.50808	0.88127	0.47919	D	AEFBI	0.301181	0.40977	N	-0.331799668978794	0.27947	1.537422	-0.217198000480421	0.30918	1.745114	0.817788421850889	0.24469	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	4.8	2.93	0.33092	2.941000	0.48703	1.631000	0.27739	0.599000	0.40250	0.991000	0.37257	0.915000	0.28207	0.900000	0.43643	0.0:0.8202:0.0:0.1798	8.652	0.33202	894	0.26265	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	458.33	34	chr9	6990510	.	C	T	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.108;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.165;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1103	18	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.025253	0.006793	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	6310.83	33	chr9	12821696	.	T	C	6310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.877;DP=1095;ExcessHet=0.119;FS=1.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.85;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	17	0	2	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D,MPDZ:NM_001261407:exon22:c.C3229G:p.H1077D,MPDZ:NM_001330637:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375413:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375416:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375417:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375419:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375420:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375422:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375424:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375425:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375426:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375427:exon22:c.C3229G:p.H1077D,MPDZ:NM_001378778:exon22:c.C3229G:p.H1077D,MPDZ:NM_003829:exon22:c.C3229G:p.H1077D,MPDZ:NM_001375418:exon23:c.C3229G:p.H1077D,MPDZ:NM_001375421:exon23:c.C3229G:p.H1077D,MPDZ:NM_001375423:exon23:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.34	34	chr9	13168391	.	G	C	129.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.191;DP=954;ExcessHet=0;FS=350.781;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=0.51;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr9	13224492	13224492	G	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon4:c.C275T:p.S92L,MPDZ:NM_001261407:exon4:c.C275T:p.S92L,MPDZ:NM_001330637:exon4:c.C275T:p.S92L,MPDZ:NM_001375413:exon4:c.C275T:p.S92L,MPDZ:NM_001375416:exon4:c.C275T:p.S92L,MPDZ:NM_001375417:exon4:c.C275T:p.S92L,MPDZ:NM_001375419:exon4:c.C275T:p.S92L,MPDZ:NM_001375420:exon4:c.C275T:p.S92L,MPDZ:NM_001375422:exon4:c.C275T:p.S92L,MPDZ:NM_001375424:exon4:c.C275T:p.S92L,MPDZ:NM_001375425:exon4:c.C275T:p.S92L,MPDZ:NM_001375426:exon4:c.C275T:p.S92L,MPDZ:NM_001375427:exon4:c.C275T:p.S92L,MPDZ:NM_001378778:exon4:c.C275T:p.S92L,MPDZ:NM_003829:exon4:c.C275T:p.S92L,MPDZ:NM_001375418:exon5:c.C275T:p.S92L,MPDZ:NM_001375421:exon5:c.C275T:p.S92L,MPDZ:NM_001375423:exon5:c.C275T:p.S92L	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	421	1079	22	0	0	22	0.0100917	.	.	.	700852	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0096	0.00599042	0.0083	0.0023	0.0068	0	0.0014	0.0115	0.0123	0.0065	0.0083246	1287	154602	rs17273542	0.0098	0.0098	0.0098	0.0097	0.0109	0.0097	0.0096	0.0107	0.0106	0.0018	0.0071	0.0261	5.044e-05	0.0006	0.0078	0.0109	0.0090	0.0062	0.0081	0.0081	0.0087	0.0076	0.0118	0.0078	0.0076	0.0111	0.0109	0.0029	0	0.0079	0.0314	0.0002	0.0005	0.0068	0.0118	0.0118	0.0101	0.149	0.25768	T	0.106	0.38160	T	0.009	0.21357	B	0.01	0.14941	B	0.747694	0.06466	N	1.165660	0.645502	0.30579	N	1.265	0.31966	L	2.75	0.12162	T	-2.61	0.57599	D	0.085	0.25989	-1.0976	0.04394	T	0.021	0.08963	T	10	0.0025561154	0.00039	T	.	.	.	0.095	0.27398	.	.	0.226586394389	0.22295	0.3798154312318193	0.37896	.	.	0.314647942781	0.12610	T	0.086555	0.37749	T	-0.57965	0.00194	T	-0.596008	0.13150	T	0.0239922070018045	0.01144	T	0.868613	0.57103	D	0.061749417	0.12821	0.097543254	0.23223	0.044899855	0.07259	0.097543254	0.23222	-5.163	0.38563	T	.	.	0.082	0.11654	B	.;.;.;.;.;.	.;.;.;.;.;.	2.647875	0.34467	19.64	0.98678853313950343	0.44581	0.77338	0.38014	D	AEFBHCI	0.207201	0.33340	N	-0.390346412872848	0.25812	1.403984	-0.29000527626026	0.28426	1.584936	0.373615862764626	0.19894	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	3.03	0.34070	3.727000	0.54711	3.934000	0.40555	0.676000	0.76740	0.990000	0.36992	0.996000	0.32793	0.994000	0.71098	0.1319:0.0:0.7408:0.1273	8.438	0.31961	613	0.66686	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009577	0.005102	0.012228	0.005848	0.000000	0.000000	0.015244	0.007576	0.02632	976.33	33	chr9	13224492	.	G	A	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=704;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.348;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr9	14801663	14801663	A	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.T3683A:p.L1228H,FREM1:NM_144966:exon21:c.T3683A:p.L1228H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0133595662315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400525559	6.185e-06	6.157e-06	5.475e-06	6.902e-06	0.0003	2.91e-06	2.11e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	4.522e-06	3.324e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.052	0.39097	T	0.051	0.47828	T	0.007	0.14184	B	0.021	0.19346	B	0.001242	0.39669	N	0.250325	0.981406	0.39773	D	2.075	0.57047	M	1.58	0.29085	T	-1.01	0.26639	N	0.301	0.38541	-1.0358	0.18606	T	0.090	0.34436	T	10	0.12660825	0.24070	T	0.01336	0.32703	T	0.125	0.34456	0.43	0.47843	0.134241683229	0.13084	0.4622721992036321	0.46145	.	.	0.451329767704	0.32126	T	0.059936	0.31251	T	-0.105515	0.35509	T	-0.389341	0.34627	T	0.544181168079376	0.34260	D	0.613939	0.23413	T	0.22260411	0.44863	0.24550927	0.50041	0.22260411	0.44863	0.24550927	0.50039	-4.176	0.26403	T	0.22057287760708366	0.29736	0.100	0.17146	B	.;.	.;.	1.440709	0.18602	13.83	0.94368066214564539	0.24731	0.82376	0.41613	D	AEFBI	0.209932	0.33588	N	-0.195753160428888	0.33311	1.888398	-0.106733011461343	0.35118	2.027958	0.338196669756765	0.19556	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.14	0.35196	2.264000	0.42959	2.459000	0.32846	0.691000	0.84096	0.996000	0.39380	0.999000	0.35428	0.954000	0.50415	0.6944:0.3056:0.0:0.0	11.515	0.49766	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	34	chr9	14801663	.	A	T	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.152;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	18	0	1	0
chr9	14801771	14801771	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.G3575A:p.R1192H,FREM1:NM_144966:exon21:c.G3575A:p.R1192H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	2	1502	17	1	0	19	0.00628515	.	.	.	265787	not_provided|not_specified|Oculotrichoanal_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0011	0.0215655	0.0113	0.0010	0.0118	0.1238	0.0002	0.0011	0.0111	0.0042	0.0105949	1638	154602	rs79023327	0.0049	0.0049	0.0050	0.0048	0.1230	0.0048	0.0048	0.1202	0.1190	0.0007	0.0134	0.0085	0.1230	7.49e-05	0.0036	0.0004	0.0091	0.0050	0.0070	0.0070	0.0063	0.0076	0.1245	0.0066	0.0065	0.1166	0.1134	0.0006	0	0.0161	0.0133	0.1245	0.0002	0	0.0006	0.0123	0.0062	0.118	0.28148	T	0.088	0.40586	T	0.051	0.22415	B	0.008	0.13708	B	0.061381	0.22175	N	0.526027	0.994358	0.23535	N	1.655	0.42436	L	1.5	0.31205	T	-1.53	0.37178	N	0.151	0.15469	-1.0609	0.11532	T	0.002	0.00707	T	10	0.0030071437	0.00049	T	.	.	.	0.054	0.15330	.	.	.	.	0.35582898831949117	0.35496	.	.	0.181597456336	0.00109	T	0.118763	0.43982	T	-0.623664	0.00104	T	-0.57191	0.15275	T	0.00355660901544638	0.00038	T	0.70423	0.31438	T	0.047354408	0.08081	0.035852004	0.02916	0.03898227	0.05298	0.046206243	0.06388	-4.122	0.25614	T	0.17901367257933087	0.22971	0.074	0.05060	B	.;.	.;.	1.325932	0.17306	13.08	0.97970164390597669	0.37246	0.07133	0.13159	N	AEFBI	0.084382	0.17102	N	-0.584410966229608	0.19417	1.016099	-0.595965186752504	0.19597	1.052174	0.5328656623577	0.21190	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.4	0.38031	-0.322000	0.08049	-1.056000	0.06467	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.4261:0.2462:0.3276	3.244	0.06389	838	0.37812	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2964.33	34	chr9	14801771	.	C	T	2964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=1106;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.606;SOR=0.769	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	14805068	14805068	T	A	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon19:c.A3359T:p.Q1120L,FREM1:NM_144966:exon20:c.A3359T:p.Q1120L	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	317781	FREM1-related_disorder|Oculotrichoanal_syndrome|not_provided	.|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	0.0227178209821	0.0008	0.000798722	0.0011	0	0.0005	0	0	0.0014	0.0022	0.0024	0.0010284	159	154602	rs143844459	0.0012	0.0012	0.0011	0.0013	0.0054	0.0012	0.0012	0.0039	0.0034	0.0002	0.0004	0.0010	2.52e-05	0.0002	0.0054	0.0013	0.0014	0.0025	0.0008	0.0008	0.0008	0.0008	0.0035	0.0007	0.0006	0.0022	0.0018	0.0001	0	0.0005	0.0006	0	0.0002	0.0034	0.0012	0.0019	0.0035	0.42	0.09836	T	0.482	0.11829	T	0.0	0.02946	B	0.005	0.11217	B	0.000403	0.44736	D	0.236168	0.990159	0.41099	D	2.77	0.80896	M	1.53	0.30401	T	-3.99	0.73893	D	0.531	0.55972	-1.0682	0.09813	T	0.069	0.28247	T	10	0.015783757	0.00331	T	0.022718	0.45634	T	0.165	0.42395	.	.	0.199424873507	0.19547	0.7283065100665023	0.72774	.	.	0.314585268497	0.12600	T	0.294009	0.66670	T	-0.438087	0.01327	T	-0.407295	0.32537	T	0.0857844060635568	0.10709	T	0.514549	0.16570	T	0.2672724	0.49799	0.2781919	0.53778	0.29420304	0.52380	0.27394274	0.53317	-8.491	0.64370	D	0.6776784439726964	0.75363	0.110	0.21125	B	.;.	.;.	2.605189	0.33824	19.45	0.87385432354807857	0.17190	0.96364	0.68777	D	AEFBI	0.819752	0.74069	D	-0.491567259811332	0.22356	1.193185	-0.367016167580554	0.25988	1.432588	0.941010142749974	0.27457	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.42	4.28	0.50183	4.671000	0.61283	0.183000	0.15654	-0.126000	0.13398	1.000000	0.71638	0.992000	0.31684	0.155000	0.20479	0.1311:0.0:0.0:0.8689	11.842	0.51639	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.008152	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	1261.33	33	chr9	14805068	.	T	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=787;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.003;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	18	0	1	0
chr9	15307232	15307232	G	C	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168339:exon1:c.C92G:p.P31R,TTC39B:NM_001168340:exon1:c.C92G:p.P31R,TTC39B:NM_001168341:exon1:c.C92G:p.P31R,TTC39B:NM_152574:exon1:c.C92G:p.P31R	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0707941534212	.	0.000199681	0.0013	0.0006	0.0026	0	0	0.0016	0	0.0011	0.0005498	85	154602	rs139180585	0.0009	0.0009	0.0009	0.0010	0.0032	0.0009	0.0009	0.0020	0.0017	6.344e-05	0.0007	0.0055	5.598e-05	0.0010	0.0032	0.0008	0.0018	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0008	0.0012	0.0011	4.814e-05	0	0.0006	0.0086	0	0.0010	0.0034	0.0014	0.0024	0.0002	0.025	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	0	0.06538	N	1.24	0.65747	T	-0.08	0.09460	N	0.171	0.25006	-1.0157	0.25110	T	0.088	0.34078	T	7	0.004478425	0.00092	T	0.070794	0.71097	D	0.025	0.05312	.	.	0.101711395817	0.09552	0.12496479779315317	0.12422	0.0485934130913	0.05311	0.558442234993	0.47048	T	0.006519	0.05951	T	-0.40992	0.01990	T	-0.362436	0.37770	T	0.0122613693759318	0.00198	T	0.414459	0.10821	T	0.039390992	0.05430	0.07526447	0.16551	0.039390992	0.05430	0.07526447	0.16551	-3.372	0.15422	T	.	.	0.071	0.13923	B	.;.;.	.;.;.	0.511930	0.08810	5.586	0.72736977072067344	0.10078	0.08375	0.14312	N	ALL	0.038761	0.05532	N	-1.13066591695033	0.06104	0.2800961	-1.2722219926765	0.04810	0.2277791	0.999999999989454	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.76	-3.11	0.04975	0.046000	0.13919	-0.219000	0.10781	-1.198000	0.01366	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.2997:0.1398:0.4118:0.1488	1.555	0.02427	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003125	0.000000	0.004249	0.003012	0.000000	0.000000	0.000000	0.003876	0.02632	1439.33	33	chr9	15307232	.	G	C	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=766;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.995;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	18	0	1	0
chr9	15453121	15453121	A	G	exonic	SNAPC3	.	nonsynonymous SNV	SNAPC3:NM_001369647:exon6:c.A818G:p.N273S,SNAPC3:NM_001369649:exon6:c.A746G:p.N249S,SNAPC3:NM_001039697:exon7:c.A896G:p.N299S,SNAPC3:NM_001369648:exon7:c.A896G:p.N299S,SNAPC3:NM_001369651:exon7:c.A896G:p.N299S	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.011080866014	.	.	2.471e-05	0	0	0	0.0002	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs745726291	2.396e-05	2.394e-05	2.18e-05	2.614e-05	0.0003	1.74e-05	1.54e-05	7.999e-05	6.237e-05	2.992e-05	0	0	0	1.872e-05	0.0003	1.26e-05	8.284e-05	0.0001	2.627e-05	2.627e-05	0	5.377e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.058	0.37750	T	0.38	0.15988	T	0.007	0.14184	B	0.028	0.21332	B	0.010565	0.29871	N	0.384868	0.983661	0.40043	D	1.63	0.41750	L	1.06	0.39781	T	-2.23	0.53898	N	0.248	0.30574	-1.0707	0.09260	T	0.072	0.29227	T	10	0.15668479	0.29504	T	0.011081	0.28332	T	0.069	0.20116	0.386	0.40624	0.399304321381	0.39546	0.49997963264002876	0.49918	0.0240240209715	0.02436	0.357350051403	0.18999	T	0.088285	0.38126	T	-0.417596	0.01773	T	-0.656096	0.08533	T	0.047843161970377	0.05115	T	0.772323	0.40326	T	0.1394886	0.32219	0.16074806	0.37425	0.1394886	0.32218	0.16074806	0.37424	-5.966	0.45994	T	.	.	0.065	0.01986	B	.;.;.	.;.;.	1.562297	0.20012	14.55	0.97619470573357314	0.34954	0.91916	0.54541	D	AEFGBI	0.324720	0.42652	N	-0.443615221396591	0.23957	1.290199	-0.293738239680993	0.28305	1.577208	0.969200475230013	0.29110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	2.65	0.30588	2.090000	0.41306	3.362000	0.37867	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8517:0.0:0.1483:0.0	9.338	0.37225	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1764.33	34	chr9	15453121	.	A	G	1764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.076;DP=754;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=2.15;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr9	15623351	15623351	C	T	exonic	CCDC171	.	stopgain	CCDC171:NM_001355547:exon6:c.C760T:p.R254X,CCDC171:NM_173550:exon7:c.C760T:p.R254X,CCDC171:NM_001348002:exon8:c.C481T:p.R161X	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0003	0.0002	8.661e-05	0	0	6.005e-05	0	0.0015	0.0002135	33	154602	rs202011112	0.0001	0.0001	8.864e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0.0002	2.245e-05	0	0	0	0.0003	4.773e-05	8.299e-05	0.0017	0.0001	0.0001	0.0001	9.411e-05	0.0002	7.093e-05	5.749e-05	0.0001	8.436e-05	0.0002	0	6.547e-05	0	0	0	0	8.824e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.008622	0.30747	N	0.343528	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237777	0.77451	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.660699	0.96738	36	0.99857454380484278	0.93639	0.11064	0.16383	N	AEFI	0.078313	0.15797	N	0.318780714668131	0.57111	3.87748	0.0784624962961335	0.43467	2.647861	1.26560192892708E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.4	3.45	0.38602	0.121000	0.15496	0.649000	0.20393	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.958000	0.51230	0.3158:0.6842:0.0:0.0	11.957	0.52272	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1048.33	35	chr9	15623351	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.681;DP=723;ExcessHet=0;FS=3.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.17;SOR=0.425	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr9	15723666	15723666	A	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon12:c.A1435G:p.M479V,CCDC171:NM_001348002:exon14:c.A1156G:p.M386V	.	532	987	2	1	0	4	0.00202224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.000798722	0.0039	0.0010	0.0014	0	0.0059	0.0057	0.0023	0.0014	0.0039003	603	154602	rs192857827	0.0049	0.0050	0.0050	0.0048	0.0057	0.0048	0.0048	0.0056	0.0055	0.0007	0.0009	0.0031	0	0.0048	0.0032	0.0057	0.0041	0.0013	0.0036	0.0036	0.0037	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0031	0.0020	0	0.0042	0	0.0058	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	216.33	33	chr9	15723666	.	A	G	216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=669;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.564;SOR=0.932	GT:AD:DP:GQ:PL	0/1:31,14:45:99:230,0,681	18	0	1	0
chr9	15744618	15744618	C	T	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon16:c.C2419T:p.R807C,CCDC171:NM_173550:exon17:c.C2395T:p.R799C,CCDC171:NM_001348002:exon18:c.C2140T:p.R714C	.	430	1089	3	0	0	3	0.00137552	.	.	.	2436754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00875984436318	7.7e-05	0.000599042	0.0004	0	0	0	0	0.0001	0	0.0021	0.0003169	49	154602	rs147702342	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0	0.0001	0	0	0.0005	9.982e-05	0.0003	0.0021	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	4.812e-05	0	0	0	0	0	0	0.0002	0.0005	0.0027	0.065	0.36310	T	0.105	0.38016	T	0.001	0.07471	B	0.0	0.01387	B	0.001524	0.38731	N	0.286938	0.999449	0.21182	N	0.55	0.14455	N	2.33	0.16492	T	-2.11	0.48020	N	0.37	0.41162	-1.0041	0.28725	T	0.021	0.08870	T	10	0.008082747	0.00183	T	0.00876	0.23123	T	0.071	0.20720	.	.	0.0611884634855	0.05136	0.24004360405268324	0.23918	.	.	0.316608935595	0.12907	T	0.044035	0.26689	T	-0.506429	0.00526	T	-0.506702	0.21654	T	0.0219206358892067	0.00900	T	0.835117	0.50455	T	0.09581115	0.22556	0.07899068	0.17744	0.09581115	0.22555	0.07899068	0.17744	-4.739	0.33872	T	.	.	0.078	0.06990	B	.	.	2.363401	0.30314	18.40	0.99706827908985041	0.81005	0.05847	0.11790	N	AEFI	0.052521	0.09382	N	-0.929426872133348	0.10159	0.4841165	-0.889350678929598	0.12345	0.6345146	1.2040798604076E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.46	1.45	0.21708	0.186000	0.16787	0.237000	0.16261	0.549000	0.26987	0.049000	0.21372	0.000000	0.08366	0.812000	0.38265	0.0:0.6416:0.1072:0.2512	8.258	0.30929	520	0.74355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	956.33	33	chr9	15744618	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-1.077;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr9	15874587	15874587	T	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon23:c.T3548G:p.L1183R,CCDC171:NM_173550:exon24:c.T3524G:p.L1175R,CCDC171:NM_001348002:exon25:c.T3269G:p.L1090R	.	429	1031	59	3	0	65	0.0305595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0051	0.00678914	0.0095	0.0007	0.0044	0.0002	0.0047	0.0090	0.0166	0.0271	0.0091784	1419	154602	rs149814894	0.0092	0.0093	0.0086	0.0099	0.0278	0.0091	0.0091	0.0269	0.0265	0.0012	0.0041	0.0207	2.55e-05	0.0037	0.0173	0.0085	0.0093	0.0278	0.0067	0.0067	0.0062	0.0072	0.0276	0.0064	0.0062	0.0238	0.0224	0.0014	0	0.0044	0.0213	0.0004	0.0046	0.0272	0.0090	0.0081	0.0276	0.089	0.32141	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000020	0.62929	D	0.000000	0.994351	0.42251	D	2.095	0.58118	M	2.11	0.19860	T	-1.04	0.27259	N	0.91	0.91162	-0.9070	0.47215	T	0.142	0.46220	T	10	0.008025855	0.00182	T	.	.	.	0.224	0.52174	.	.	0.154104182512	0.14974	0.45066847768622825	0.44984	.	.	0.552870512009	0.46263	T	0.050963	0.28745	T	-0.161557	0.26520	T	0.0147549	0.71290	D	0.0191352506970154	0.00621	T	0.824018	0.48536	T	0.4105033	0.61452	0.33814338	0.59596	0.4105033	0.61453	0.33814338	0.59595	-5.374	0.40669	T	.	.	0.676	0.71974	P	.	.	4.848866	0.79229	27.1	0.99786180405727065	0.87219	0.90879	0.52434	D	AEFBCI	0.686121	0.64790	D	0.279908937397231	0.55131	3.677424	0.400830299741183	0.61618	4.364282	0.998148247876127	0.36487	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.638833	0.57524	0	.	.	5.74	5.74	0.90070	5.177000	0.64870	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.105	0.81025	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.010101	0.017663	0.032164	0.000000	0.017241	0.006098	0.015152	0.05263	1963.83	33	chr9	15874587	.	T	G	1963.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.515;DP=843;ExcessHet=0.119;FS=0.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.671;SOR=0.723	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	17	0	2	0
chr9	16215808	16215808	A	G	exonic	C9orf92	.	nonsynonymous SNV	C9orf92:NM_001364979:exon2:c.T61C:p.Y21H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0226961103981	.	.	5.922e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs753380704	1.43e-06	1.368e-06	0	2.9e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.723e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-4.79	0.80595	D	0.082	0.05799	-0.9795	0.35117	T	0.072	0.29163	T	5	0.081323385	0.13300	T	0.022696	0.45612	T	0.192	0.47115	0.42	0.46200	0.0401082797425	0.02173	0.004763896578098993	0.00448	.	.	.	.	.	.	.	.	-0.24708	0.14459	T	-0.464911	0.26067	T	0.15150329373892	0.17223	T	0.440256	0.12156	T	.	.	.	.	.	.	.	.	-3.143	0.11797	T	.	.	0.183	0.39765	B	.	.	-0.140550	0.03408	0.617	0.92373951067285087	0.21780	0.01478	0.04921	N	AEFBI	0.052735	0.09439	N	-0.877666913200557	0.11376	0.5486129	-1.15437564917682	0.06690	0.3228527	0.999990743843369	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	2.35	-4.71	0.03042	-0.806000	0.04632	0.820000	0.21843	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.318:0.1528:0.2552:0.2741	0.193	0.00126	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	116	chr9	16215808	.	A	G	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.49;DP=763;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.16;SOR=0.548	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1391	18	0	1	0
chr9	16419551	16419551	C	T	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_001317940:exon6:c.G2453A:p.R818H,BNC2:NM_017637:exon7:c.G2738A:p.R913H	.	421	1098	3	0	0	3	0.00136426	.	.	.	2357073	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0155834490296	0.0002	0.000199681	9.164e-05	9.94e-05	8.652e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs142906838	4.31e-05	4.309e-05	3.948e-05	4.675e-05	0.0002	3.442e-05	3.129e-05	2.625e-05	2.305e-05	5.974e-05	2.236e-05	0.0005	2.519e-05	0	0.0002	3.507e-05	8.279e-05	0	3.29e-05	3.283e-05	1.286e-05	5.389e-05	0.0001	1.262e-05	7.99e-06	2.265e-05	9.09e-06	4.825e-05	0	0.0001	0	0	0	0	1.471e-05	0	0	0.143	0.25355	T	0.206	0.27056	T	0.994	0.66517	D	0.6	0.50752	P	0.000001	0.84330	D	0.056493	1	0.81001	D	1.845	0.48678	L	1.34	0.34841	T	-0.93	0.29727	N	0.56	0.80572	-1.0736	0.08639	T	0.125	0.42903	T	10	0.20569676	0.36805	T	0.015583	0.36391	T	0.212	0.50341	.	.	0.134007934775	0.12933	0.6088567499262493	0.60817	0.472355865336	0.46475	0.72979092598	0.71475	T	0.095625	0.39659	T	-0.0698011	0.41358	T	-0.155894	0.58719	T	0.260132908821106	0.23320	T	0.931207	0.74412	D	0.15378016	0.34841	0.1262532	0.30410	0.15378016	0.34841	0.1262532	0.30409	-5.712	0.43800	T	.	.	0.152	0.45359	B	.;.	.;.	4.242053	0.64317	24.7	0.99900386499457372	0.97199	0.96916	0.71642	D	AEFBI	0.811244	0.73428	D	0.478028563637865	0.65808	4.869431	0.544112587376567	0.70988	5.586978	0.999999999981884	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.156000	0.71637	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.393	0.94585	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1239.33	47	chr9	16419551	.	C	T	1239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=893;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.06;SOR=0.922	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr9	16436035	16436035	C	T	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_001317939:exon5:c.G2033A:p.R678Q,BNC2:NM_001317940:exon5:c.G1874A:p.R625Q,BNC2:NM_017637:exon6:c.G2159A:p.R720Q	.	419	1099	4	0	0	4	0.00181653	.	.	.	1454913	not_provided|BNC2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0170825900815	0.0014	.	0.0008	9.612e-05	0.0003	0	0.0002	0.0011	0.0011	0.0008	0.0007115	110	154602	rs147575972	0.0010	0.0010	0.0010	0.0010	0.0011	0.0010	0.0009	0.0011	0.0011	0.0002	0.0002	0.0022	0	7.488e-05	0.0005	0.0011	0.0010	0.0008	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0	0	0.0002	0.0032	0	0.0002	0	0.0011	0.0005	0.0004	0.014	0.54683	D	0.236	0.35970	T	0.957	0.60381	D	0.257	0.39298	B	0.000000	0.84330	D	0.048258	1	0.81001	D	0.895	0.22405	L	1.18	0.58613	T	-0.54	0.16598	N	0.706	0.72835	-0.8671	0.50746	T	0.179	0.52582	T	10	0.017489284	0.00374	T	0.017083	0.38630	T	0.151	0.39764	.	.	0.123314135267	0.11883	0.2623382753811939	0.26146	0.371563017689	0.38657	0.706955969334	0.68151	T	0.070668	0.34018	T	-0.18161	0.23497	T	-0.0741803	0.65327	T	0.0594813993969567	0.07087	T	0.966003	0.89432	D	0.2316151	0.45935	0.16439453	0.38084	0.22975115	0.45718	0.18306762	0.41272	-3.83	0.21253	T	.	.	0.106	0.49226	B	.;.;.;.;.	.;.;.;.;.	4.428038	0.68647	25.3	0.99895888182557258	0.96895	0.98154	0.80066	D	AEFGBI	0.822935	0.74316	D	0.291008812123101	0.55691	3.733266	0.360591588701678	0.59149	4.090296	0.999999999794404	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.57	4.67	0.58089	4.972000	0.63471	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1367:0.8633:0.0:0.0	15.853	0.78731	353	0.85335	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3105.33	39	chr9	16436035	.	C	T	3105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.36;DP=864;ExcessHet=0;FS=1.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.688;SOR=0.816	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	16738425	16738425	T	C	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_017637:exon2:c.A64G:p.S22G	.	.	.	.	.	.	.	.	.	.	.	2095540	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00234129457469	0.0008	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001229	19	154602	rs79395563	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0017	3.86e-05	3.54e-05	0.0013	0.0012	0.0017	0	0	0	0	0.0007	0	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0013	0.0003	0.0002	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.712	0.04020	T	0.777	0.04372	T	0.043	0.21573	B	0.007	0.12992	B	0.705936	0.10054	N	0.836981	1	0.08975	N	0	0.06538	N	3.83	0.03702	T	-0.23	0.15578	N	0.159	0.19190	-0.9259	0.44730	T	0.005	0.01578	T	10	0.0037554502	0.00070	T	0.002341	0.04535	T	0.029	0.06676	.	.	0.043077524339	0.03247	0.04027998661345282	0.03973	0.0241015122764	0.02450	0.264336109161	0.05419	T	0.044627	0.26872	T	-0.650771	0.00072	T	-0.726578	0.04484	T	0.00617536609023547	0.00068	T	0.579042	0.22137	T	0.0328609	0.03392	0.030576633	0.01530	0.0328609	0.03391	0.030576633	0.01530	-4.015	0.24027	T	.	.	0.070	0.03515	B	.;.	.;.	0.530655	0.08992	5.775	0.80046989221171383	0.13020	0.02249	0.06516	N	AEFBI	0.060083	0.11394	N	-1.08042574976096	0.07005	0.324108	-1.02496449833351	0.09238	0.4584467	0.809185866722537	0.24324	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.6	1.16	0.19936	-0.334000	0.07927	0.105000	0.14702	0.605000	0.46263	0.000000	0.06391	0.004000	0.18990	0.995000	0.73285	0.2346:0.1344:0.0:0.631	2.494	0.04335	727	0.54702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	819.33	39	chr9	16738425	.	T	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.934;DP=804;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.393;SOR=1.085	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr9	17394898	17394898	G	A	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.G2444A:p.R815K,CNTLN:NM_017738:exon15:c.G2444A:p.R815K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00555132211887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.959	0.02555	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	2.28	0.17271	T	-0.23	0.10656	N	0.063	0.03502	-1.0542	0.13251	T	0.034	0.14509	T	9	0.048118144	0.04220	T	0.005551	0.14319	T	0.051	0.14325	0.175	0.08135	0.0138822411134	0.00435	0.08290319736704431	0.08225	.	.	0.254007339478	0.04202	T	.	.	.	-0.295442	0.09096	T	-0.662159	0.08121	T	0.156047766135084	0.17575	T	0.545245	0.18642	T	.	.	.	.	.	.	.	.	-2.256	0.04321	T	.	.	0.087	0.11317	B	.	.	0.662919	0.10314	7.044	0.82669416985350519	0.14313	0.11488	0.16667	N	AEFBI	0.197634	0.32454	N	-0.557201951319926	0.20259	1.066638	-0.555495126006756	0.20660	1.114103	0.999914629383495	0.45857	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	4.11	0.47350	1.357000	0.33694	4.081000	0.41738	0.676000	0.76740	0.006000	0.17386	1.000000	0.68203	0.450000	0.27895	0.2189:0.1324:0.5118:0.1369	2.168	0.03608	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	68.33	35	chr9	17394898	.	G	A	68.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.148;DP=808;ExcessHet=0;FS=43.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.007;SOR=4.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1129:.	18	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P,CNTLN:NM_017738:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	68.43	35	chr9	17394900	.	T	C	68.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.209;DP=1086;ExcessHet=0;FS=96.731;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.676;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1129:.	18	0	1	0
chr9	18721583	18721583	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon15:c.C1924G:p.P642A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00336152058816	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs765996340	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.05183	T	0.746	0.04895	T	0.0	0.02946	B	0.001	0.04355	B	1.000000	0.07966	U	0.390143	0.861522	0.28348	N	-0.44	0.02835	N	0.24	0.59583	T	0.47	0.03955	N	0.322	0.36254	-0.9762	0.35860	T	0.072	0.29227	T	10	0.07460815	0.11427	T	0.003362	0.07512	T	0.104	0.29647	0.279	0.23323	0.385249989106	0.38142	0.11741613639691845	0.11669	0.0641064311591	0.07144	0.259634971619	0.04847	T	0.011504	0.10257	T	-0.18767	0.22600	T	-0.491866	0.23196	T	0.0549564808607101	0.06349	T	0.724428	0.33821	T	0.049926125	0.08942	0.045032814	0.05968	0.049926125	0.08941	0.045032814	0.05967	-2.98	0.17082	T	.	.	0.058	0.00647	B	.;.	.;.	2.147812	0.27353	17.43	0.68659948329414666	0.08727	0.73458	0.35932	D	AEFDBI	0.127720	0.24520	N	-0.357269224874569	0.27007	1.478337	-0.0832756747494827	0.36080	2.095286	0.999999035818382	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.86	4.89	0.63387	2.906000	0.48432	4.187000	0.42377	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.954000	0.50415	0.3167:0.5938:0.0:0.0895	6.746	0.22650	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	581.33	36	chr9	18721583	.	C	G	581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.014;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	18770656	18770656	C	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon17:c.C2272T:p.R758C	.	433	1086	3	0	0	3	0.00137931	.	.	.	3242913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.374	0.0458475370928	.	.	0.0001	0	0.0007	0	0	0.0001	0	0.0001	0.0001552	24	154602	rs554272440	6.433e-05	6.43e-05	5.719e-05	7.154e-05	0.0006	5.363e-05	4.978e-05	0.0004	0.0003	0	0.0006	0	2.52e-05	0	0.0003	5.037e-05	8.284e-05	5.807e-05	0.0001	0.0001	0.0001	0.0001	0.0008	9.74e-05	8.255e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0.0001	0.0005	0	0.014	0.53172	D	0.015	0.61642	D	1.0	0.90584	D	0.993	0.81110	D	1.000000	0.07966	U	0.071793	1	0.81001	D	3.075	0.87202	M	0.52	0.55266	T	-2.53	0.54864	D	0.717	0.71942	-0.4137	0.71592	T	0.434	0.77465	T	10	0.6619966	0.70207	D	0.045848	0.62176	D	0.374	0.69273	0.618	0.75232	0.692535075215	0.68989	0.37103510228422076	0.37017	0.453800598545	0.45067	0.682112216949	0.64572	T	0.140398	0.47492	T	0.0301816	0.55749	T	0.159611	0.80783	D	0.252750164481202	0.22996	T	0.953805	0.82399	D	0.17072497	0.37664	0.17754303	0.40363	0.17072497	0.37664	0.17754303	0.40362	-11.182	0.80647	D	.	.	0.362	0.57342	A	.	.	5.546805	0.92016	32	0.99942027681063261	0.99824	0.97828	0.77433	D	AEFDBI	0.811402	0.73439	D	0.812256555357523	0.86868	9.025146	0.778972669617883	0.88294	9.528997	0.99999999999899	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	4.628000	0.60981	6.028000	0.52885	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.358	0.94413	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	991.33	33	chr9	18770656	.	C	T	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.44;SOR=0.665	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1005,0,1007	18	0	1	0
chr9	18777044	18777044	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.C2815G:p.P939A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0092419257184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327662055	1.37e-06	1.368e-06	0	2.756e-06	2.241e-05	2.3e-07	9e-08	.	.	0	2.241e-05	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.754	0.56161	P	0.652352	0.10501	N	0.459183	0.99866	0.45243	D	0.04	0.08086	N	2.81	0.10975	T	0.11	0.05706	N	0.28	0.31702	-1.0834	0.06702	T	0.033	0.14247	T	10	0.22330564	0.39105	T	0.009242	0.24272	T	0.256	0.56694	0.534	0.64293	0.269111216191	0.26524	0.2573257840889633	0.25646	0.341058034284	0.36042	0.43762421608	0.30252	T	0.009132	0.08331	T	-0.125712	0.32192	T	-0.335488	0.40855	T	0.195748052247652	0.20178	T	0.725127	0.33902	T	0.044460442	0.07110	0.08472923	0.19511	0.044460442	0.07109	0.08472923	0.19510	-2.793	0.08119	T	.	.	0.078	0.06710	B	.	.	1.788610	0.22740	15.74	0.64331164803123886	0.07464	0.91988	0.54698	D	AEFDBI	0.441494	0.49961	N	0.0165611658780883	0.42608	2.570515	0.0624439336180075	0.42678	2.585541	0.999992672685744	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	1.832000	0.38791	4.060000	0.41579	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	19.053	0.93036	884	0.28482	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1990.81	69	chr9	18777044	.	C	G	1990.81	.	AC=2;AF=0.053;AN=38;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=0.758	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	1	0	0
chr9	19123595	19123596	TC	-	exonic	PLIN2	.	frameshift deletion	PLIN2:NM_001122:exon4:c.278_279del:p.R93Tfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3546.29	34	chr9	19123594	.	GTC	G	3546.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=817;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.17;ReadPosRankSum=-0.726;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	18	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	14	0	5	0
chr9	19296186	19296186	A	C	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_001330640:exon6:c.A980C:p.K327T,DENND4C:NM_017925:exon6:c.A980C:p.K327T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0117638043575	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760363457	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.045312	0.999997	0.81001	D	.	.	.	2.63	0.12884	T	.	.	.	0.639	0.65159	-0.4555	0.70218	T	0.310	0.68003	T	9	0.5657069	0.65038	D	0.011764	0.29704	T	.	.	.	.	0.664764370891	0.66194	0.6953247861296378	0.69473	0.225390982773	0.25083	0.711486399174	0.68808	T	.	.	.	-0.019828	0.48878	T	-0.266258	0.48199	T	0.96762231295482	0.67970	D	0.922108	0.71672	D	0.49000803	0.66503	0.31411374	0.57405	0.49000803	0.66504	0.31411374	0.57404	-8.849	0.66798	D	.	.	0.235	0.58233	B	.;.	.;.	3.890978	0.56615	23.8	0.99754774968611815	0.84537	0.97715	0.76612	D	AEFBI	0.696167	0.65459	D	0.607589543708515	0.73654	6.001543	0.594033394424714	0.74510	6.149445	0.999999996130289	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	7.437000	0.79579	11.273000	0.91473	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.660	0.68467	609	0.67094	.;cDENN domain|Tripartite DENN domain|cDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1559.33	34	chr9	19296186	.	A	C	1559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.56;DP=763;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.982;SOR=0.985	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1368	18	0	1	0
chr9	19346596	19346596	T	G	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_017925:exon22:c.T3680G:p.V1227G,DENND4C:NM_001330640:exon23:c.T3827G:p.V1276G	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0150813085479	0.0015	0.00299521	0.0014	0.0051	0.0009	0.0001	0	0.0014	0.0011	0.0006	0.0013907	215	154602	rs34267952	0.0009	0.0009	0.0009	0.0010	0.0045	0.0009	0.0009	0.0037	0.0035	0.0042	0.0006	0.0047	0	0	0.0045	0.0008	0.0015	0.0007	0.0022	0.0022	0.0020	0.0024	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0.0066	0.0010	0.0075	0.0002	0	0.0034	0.0011	0.0019	0.0006	.	.	.	0.175	0.34359	T	.	.	.	.	.	.	0.917302	0.08511	N	0.964820	0.999992	0.81001	D	.	.	.	3.41	0.05574	T	.	.	.	0.239	0.26957	-1.1563	0.00850	T	0.087	0.33802	T	10	0.007730067	0.00175	T	0.015081	0.35602	T	.	.	.	.	0.367229591828	0.36328	0.5308378768336856	0.53007	0.04256783019	0.04588	0.287085205317	0.08499	T	0.025701	0.19163	T	-0.316632	0.07178	T	-0.226918	0.52069	T	0.0231665818017084	0.01043	T	0.550145	0.20372	T	0.1230204	0.28895	0.14525862	0.34457	0.1230204	0.28895	0.14525862	0.34456	-2.027	0.03284	T	.	.	0.284	0.51669	B	.;.;.	.;.;.	3.432991	0.47720	22.5	0.99236170915590027	0.56373	0.97622	0.75966	D	AEFBI	0.434729	0.49566	N	0.235373780766802	0.52921	3.463339	0.280837915191587	0.54422	3.607163	0.952485612769045	0.28019	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.81	4.68	0.58319	1.738000	0.37831	2.350000	0.32308	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0693:0.0:0.9307	11.551	0.49972	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	2246.33	34	chr9	19346596	.	T	G	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=787;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.952;SOR=0.632	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	19786272	19786272	C	T	exonic	SLC24A2	.	nonsynonymous SNV	SLC24A2:NM_001193288:exon2:c.G595A:p.A199T,SLC24A2:NM_001375850:exon2:c.G595A:p.A199T,SLC24A2:NM_001375851:exon2:c.G595A:p.A199T,SLC24A2:NM_020344:exon2:c.G595A:p.A199T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3325375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0159884011707	0.0002	.	0.0001	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs139419786	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	4.472e-05	0	0	0	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	9.403e-05	0.0010	9.146e-05	7.702e-05	0.0004	0.0003	7.223e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0010	0.132	0.26965	T	0.405	0.14771	T	0.875	0.48103	P	0.481	0.47102	P	0.000000	0.84330	D	0.052011	0.999997	0.58761	D	0.555	0.15161	N	-0.01	0.62762	T	-1.42	0.34992	N	0.255	0.33030	-0.9294	0.44227	T	0.152	0.48049	T	9	0.20506805	0.36721	T	0.015988	0.37021	T	0.116	0.32463	.	.	0.859468037599	0.85810	0.6550622061037467	0.65442	0.229182428038	0.25482	0.848619937897	0.89405	D	0.328087	0.69853	T	-0.245973	0.14596	T	-0.300956	0.44623	T	0.0855192180600995	0.10678	T	0.892511	0.62902	D	0.17830838	0.38844	0.25664338	0.51368	0.17830838	0.38844	0.25664338	0.51367	-6.375	0.49688	T	.	.	0.791	0.76851	P	.;.	.;.	5.124501	0.85729	28.7	0.99855501363790278	0.93458	0.92185	0.55134	D	AEFBI	0.531744	0.55190	D	0.286991571270139	0.55488	3.712882	0.434247955618337	0.63713	4.610496	0.999999811508424	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.76	5.76	0.90726	5.570000	0.67098	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2684:0.7316:0.0:0.0	12.958	0.57839	786	0.46839	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2956.33	33	chr9	19786272	.	C	T	2956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.172;DP=886;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.919;SOR=0.667	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr9	20414298	20414300	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.537_539del:p.S187del,MLLT3:NM_004529:exon5:c.546_548del:p.S190del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295395217	0	7.527e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.6e-06	1.974e-05	0	1.351e-05	2.424e-05	0	0	.	.	2.424e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1433.29	34	chr9	20414297	.	GCTA	G	1433.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.378;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=0.857;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1404:.	18	0	1	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5204.47	34	chr9	20414312	.	A	ACTG	5204.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.485;DP=871;ExcessHet=1.3;FS=0.512;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=0;QD=18.33;ReadPosRankSum=0.17;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1404:.	17	0	2	0
chr9	20414312	20414312	-	CTGCTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAGCAG:p.S187_T188insSS,MLLT3:NM_004529:exon5:c.533_534insCAGCAG:p.S190_T191insSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0003	0.0008	0.0002	0.0006	5.767e-05	0.0006	0.0003	0.0005	0.0003	0.0012	0.0012	0.0013	0.0011	0.0026	0.0010	0.0010	0.0019	0.0017	0.0013	0	0.0026	0	0.0006	0	0	0.0012	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5204.47	34	chr9	20414312	.	A	ACTGCTG	5204.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=871;ExcessHet=1.3;FS=0.512;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0;QD=18.33;ReadPosRankSum=0.17;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1404:.	18	0	1	0
chr9	20758191	20758191	G	C	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.G389C:p.R130T,FOCAD:NM_001375567:exon6:c.G494C:p.R165T,FOCAD:NM_001375568:exon6:c.G494C:p.R165T,FOCAD:NM_017794:exon8:c.G494C:p.R165T	.	.	.	.	.	.	.	.	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	.	.	2.716e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770297844	1.649e-05	1.642e-05	5.472e-06	2.762e-05	0.0005	1.116e-05	9.38e-06	0.0001	0.0001	0	0	0	0	0	0.0005	0	3.331e-05	0.0002	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.321e-05	3.04e-05	0	0	0	0	0	0	0	0	0	0.0004	0.006	0.61437	D	0.025	0.56192	D	.	.	.	.	.	.	0.000000	0.84330	D	0.046985	0.999973	0.53665	D	.	.	.	2.1	0.19990	T	-1.4	0.34596	N	0.723	0.72477	-1.1481	0.01083	T	0.063	0.26136	T	10	0.3145298	0.48894	T	0.022486	0.45384	T	0.191	0.46948	0.339	0.32979	0.332133492242	0.32818	0.5203331527216261	0.51956	0.0128615239235	0.01240	0.56930065155	0.48579	T	.	.	.	-0.145496	0.29019	T	-0.154623	0.58833	T	0.289241254329681	0.24558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31857	B	.;.	.;.	5.524360	0.91810	32	0.98041791792938049	0.37797	0.94715	0.62081	D	AEFBI	0.569055	0.57399	D	0.36229267939835	0.59392	4.118181	0.394002458159118	0.61194	4.316201	0.999998000742705	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.666000	0.61248	11.648000	0.93855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	17.192	0.86762	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	33	chr9	20758191	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.171;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.852;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	18	0	1	0
chr9	20881958	20881958	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon19:c.C2300T:p.A767V,FOCAD:NM_001375570:exon19:c.C2300T:p.A767V,FOCAD:NM_001375567:exon20:c.C2405T:p.A802V,FOCAD:NM_017794:exon22:c.C2405T:p.A802V	.	435	1085	2	0	0	2	0.00092081	.	.	.	3006662	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.00308836486452	0.0038	0.00219649	0.0032	0.0010	0.0006	0	0.0048	0.0047	0.0033	0.0013	0.0032988	510	154602	rs79849792	0.0043	0.0043	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0049	0.0009	0.0007	0.0003	2.52e-05	0.0049	0.0003	0.0050	0.0034	0.0015	0.0032	0.0032	0.0033	0.0031	0.0057	0.0030	0.0029	0.0052	0.0051	0.0007	0	0.0009	0.0006	0	0.0041	0	0.0057	0.0033	0.0021	0.4	0.10482	T	1.0	0.01155	T	.	.	.	.	.	.	0.950673	0.07654	N	1.019870	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.71	0.20145	N	0.088	0.10198	-0.9264	0.44659	T	0.012	0.04558	T	10	0.0031612515	0.00053	T	0.003088	0.06696	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.2831463635393905	0.28227	0.00576713169931	0.00504	0.235915049911	0.02434	T	0.015573	0.13037	T	-0.759268	0.00015	T	-0.859686	0.00846	T	0.00128080978368973	0.00013	T	0.565643	0.19997	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.;.	.;.;.	0.554943	0.09233	6.017	0.93441065259456846	0.23218	0.04944	0.10704	N	AEFBI	0.040645	0.06074	N	-1.04558351606797	0.07675	0.3573183	-0.998740363505952	0.09813	0.4904374	0.663225487454854	0.22294	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	-0.624	0.10972	0.224000	0.17520	0.021000	0.13590	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.328:0.0:0.672	10.394	0.43374	564	0.70960	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1197.33	35	chr9	20881958	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=699;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.636;SOR=1.055	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	18	0	1	0
chr9	20885205	20885205	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon20:c.A2495G:p.Q832R,FOCAD:NM_001375570:exon20:c.A2495G:p.Q832R,FOCAD:NM_001375567:exon21:c.A2600G:p.Q867R,FOCAD:NM_017794:exon23:c.A2600G:p.Q867R	.	428	1087	7	0	0	7	0.00320954	.	.	.	1269746	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0003	0.0125799	0.0056	0.0005	0.0067	0.0637	0.0002	0.0001	0.0022	0.0017	0.0051875	802	154602	rs117863779	0.0023	0.0023	0.0023	0.0022	0.0665	0.0022	0.0022	0.0643	0.0634	0.0003	0.0079	0	0.0665	5.909e-05	0.0004	6.075e-05	0.0029	0.0021	0.0033	0.0033	0.0029	0.0037	0.0567	0.0031	0.0030	0.0513	0.0493	0.0009	0	0.0094	0	0.0567	0	0	5.879e-05	0.0033	0.0035	0.007	0.59928	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	3.03	0.08898	T	-1.78	0.42001	N	0.833	0.82862	-1.1167	0.02552	T	0.004	0.01261	T	10	0.0039061606	0.00074	T	.	.	.	0.239	0.54358	.	.	0.554477701018	0.55106	0.6182940260729198	0.61762	0.00671808178794	0.00592	0.593085110188	0.51930	T	0.152573	0.49303	T	-0.298231	0.08828	T	-0.153269	0.58954	T	0.0297225543720126	0.01947	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.61130	A	.;.;.	.;.;.	3.839336	0.55545	23.6	0.99672373701489736	0.78652	0.97137	0.72907	D	ALL	0.774155	0.70795	D	0.389117519333634	0.60833	4.276602	0.396097131475783	0.61325	4.33092	0.999999999982716	0.74766	0.77792	0.99625	0	0.854111	0.99885	0	0.691618	0.62860	0	0.825845	0.99933	0	.	.	5.3	5.3	0.74745	6.662000	0.74271	8.130000	0.76651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	15.548	0.75856	565	0.70868	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	511.33	33	chr9	20885205	.	A	G	511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.257;DP=661;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.887;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1072	18	0	1	0
chr9	20923697	20923697	C	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon24:c.C2785G:p.L929V,FOCAD:NM_001375570:exon24:c.C2785G:p.L929V,FOCAD:NM_001375567:exon25:c.C2890G:p.L964V,FOCAD:NM_017794:exon27:c.C2890G:p.L964V	.	432	1073	12	1	4	18	0.00648148	.	.	.	2988248	FOCAD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0005	0.0113818	0.0060	0.0003	0.0010	0.0305	0	0.0001	0.0102	0.0266	0.0053816	832	154602	rs117748510	0.0027	0.0027	0.0019	0.0035	0.0273	0.0026	0.0026	0.0264	0.0260	0.0005	0.0003	0	0.0263	1.872e-05	0.0028	0.0002	0.0043	0.0273	0.0021	0.0021	0.0017	0.0025	0.0305	0.0019	0.0019	0.0264	0.0249	0.0005	0	6.534e-05	0	0.0260	0	0.0034	0.0002	0.0028	0.0305	0.047	0.40319	D	0.0	0.92824	D	.	.	.	.	.	.	0.000024	0.55875	D	0.072248	0.999709	0.48408	D	.	.	.	-0.93	0.75215	T	-2.01	0.46337	N	0.83	0.85238	-0.7182	0.59551	T	0.150	0.47752	T	10	0.009301335	0.00210	T	.	.	.	0.426	0.73372	.	.	0.649314703251	0.64640	0.4799576502131357	0.47915	0.0239078099333	0.02427	0.555704414845	0.46660	T	0.055797	0.30106	T	-0.187113	0.22683	T	-0.017867	0.69169	D	0.0335711694566184	0.02566	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.;.	.;.;.	2.744783	0.35961	20.1	0.99689563059916253	0.79842	0.77620	0.38185	D	AEFDGBI	0.347276	0.44180	N	0.232178871657312	0.52763	3.448597	0.235089474670716	0.51805	3.359969	0.756002068294349	0.23435	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	3.37	0.37692	1.320000	0.33272	0.323000	0.17205	0.599000	0.40250	0.998000	0.41325	0.995000	0.32472	0.976000	0.56436	0.0:0.1844:0.0:0.8156	7.467	0.26497	464	0.78488	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	725.33	36	chr9	20923697	.	C	G	725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=767;ExcessHet=0;FS=3.172;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.454;SOR=0.887	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr9	20929532	20929532	G	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375570:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375567:exon27:c.G3253A:p.V1085M,FOCAD:NM_017794:exon29:c.G3253A:p.V1085M	.	432	1079	11	0	0	11	0.00507146	.	.	.	767365	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.369	0.0181318337219	0.0003	0.000399361	0.0005	0	0.0003	0	0	0.0002	0.0011	0.0028	0.0004786	74	154602	rs143564901	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0031	0.0030	0.0001	0.0003	0	5.038e-05	1.872e-05	0.0033	0.0002	0.0007	0.0034	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0001	0	0.0002	0	0	0	0	0.0002	0.0009	0.0012	0.035	0.43708	D	0.02	0.92824	D	.	.	.	.	.	.	0.007025	0.31644	N	0.331333	0.980415	0.39664	D	.	.	.	-1.02	0.76300	T	-0.92	0.24676	N	0.381	0.52297	-0.3440	0.73728	T	0.314	0.68397	T	10	0.01407221	0.00297	T	0.018132	0.40089	T	0.369	0.68844	.	.	0.709331485652	0.70679	0.4688371267529804	0.46802	0.00646287402462	0.00566	0.564574897289	0.47913	T	0.070962	0.34090	T	-0.200618	0.20715	T	-0.0630554	0.66118	T	0.0402515653521763	0.03736	T	0.877312	0.59878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36791	B	.;.;.;.;.	.;.;.;.;.	3.509311	0.49139	22.7	0.99677011677302574	0.78977	0.89913	0.50694	D	AEFDBIJ	0.339076	0.43634	N	0.356378925210758	0.59077	4.084305	0.415274820377807	0.62515	4.468268	0.981747679325063	0.30305	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	6.06	5.16	0.70563	2.693000	0.46694	6.745000	0.56495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0675:0.1291:0.8034:0.0	10.946	0.46511	435	0.80441	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3172.83	33	chr9	20929532	.	G	A	3172.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=849;ExcessHet=0.119;FS=0.459;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.82;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	17	0	2	0
chr9	20981681	20981681	A	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon37:c.A4528T:p.I1510F,FOCAD:NM_001375570:exon37:c.A4528T:p.I1510F,FOCAD:NM_001375567:exon38:c.A4633T:p.I1545F,FOCAD:NM_017794:exon40:c.A4633T:p.I1545F	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0193072868096	.	.	3.337e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs749602777	5.509e-06	6.156e-06	5.474e-06	5.544e-06	0.0002	2.37e-06	1.71e-06	9.342e-05	6.802e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.82	0.25018	T	-1.66	0.39692	N	0.559	0.58373	-0.8856	0.49307	T	0.157	0.48976	T	10	0.28785354	0.46367	T	0.019307	0.41638	T	0.200	0.48430	0.374	0.38667	0.473538153929	0.46983	0.554029620889205	0.55329	0.021579088437	0.02143	0.591266751289	0.51673	T	0.020402	0.16069	T	-0.196308	0.21338	T	-0.220823	0.52658	T	0.374100928650635	0.27955	T	0.861114	0.55479	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.58744	B	.;.;.	.;.;.	4.456598	0.69330	25.4	0.98800047192333518	0.46445	0.98659	0.85246	D	AEFDGBIJ	0.624424	0.60800	D	0.696430055544595	0.79398	7.069268	0.693224400065937	0.81863	7.627481	0.9999999999994	0.74766	0.50712	0.20391	0	0.658105	0.61773	0	0.659464	0.59346	0	0.677038	0.66255	0	.	.	5.95	5.95	0.96415	3.898000	0.55993	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.432	0.83693	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1222.33	35	chr9	20981681	.	A	T	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=709;ExcessHet=0;FS=5.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=1.64;SOR=0.264	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	18	0	1	0
chr9	20986463	20986463	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon39:c.C4799T:p.T1600M,FOCAD:NM_001375570:exon39:c.C4799T:p.T1600M,FOCAD:NM_001375567:exon40:c.C4904T:p.T1635M,FOCAD:NM_017794:exon42:c.C4904T:p.T1635M	.	.	.	.	.	.	.	.	0.9988	0.88	.	2761261	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0441924157617	.	0.000399361	0.0004	0.0001	0.0003	0.0016	0	8.187e-05	0	0.0014	0.0002911	45	154602	rs545740798	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0009	0.0008	6.05e-05	0.0005	0	0.0006	0	0.0004	9.021e-05	9.994e-05	0.0010	0.0001	0.0001	0.0001	0.0001	0.0017	8.691e-05	7.278e-05	0.0008	0.0006	9.667e-05	0	6.561e-05	0	0.0004	0	0	7.362e-05	0	0.0017	0.005	0.63226	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.87	0.24085	T	-2.05	0.47008	N	0.896	0.90363	-0.8268	0.53505	T	0.181	0.52752	T	10	0.18600678	0.34047	T	0.044192	0.61368	D	0.222	0.51872	.	.	0.47558534428	0.47187	0.645385658233276	0.64473	0.0284576509371	0.02927	0.599431633949	0.52824	T	0.128597	0.45636	T	-0.201751	0.20554	T	-0.103111	0.63156	T	0.0764624414285405	0.09528	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.51558	B	.;.;.	.;.;.	5.962123	0.94195	33	0.9990601965653656	0.97651	0.96798	0.70996	D	AEFGBI	0.775934	0.70920	D	0.73760046176212	0.82097	7.678815	0.704892706985487	0.82752	7.845106	0.999999999986452	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	6.065000	0.70812	6.038000	0.52989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.563	0.95376	485	0.77085	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1577.33	41	chr9	20986463	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.31;DP=834;ExcessHet=0;FS=3.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.181;SOR=1.143	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr9	21010730	21010730	T	C	exonic	HACD4	.	nonsynonymous SNV	HACD4:NM_001321903:exon7:c.A638G:p.H213R	.	971	549	2	0	0	2	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs775635484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.813e-05	0	0	0	0	9.427e-05	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	404.33	23	chr9	21010730	.	T	C	404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.17;SOR=0.693	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,491	18	0	1	0
chr9	21077768	21077768	G	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.C102G:p.S34R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00641865448437	0.0003	0.000998403	0.0008	0	8.754e-05	0.0001	0.0002	0.0004	0.0022	0.0037	0.0001229	19	154602	rs139262191	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0038	0.0037	2.989e-05	0.0003	0.0012	2.52e-05	0.0001	0.0014	0.0002	0.0008	0.0042	0.0004	0.0004	0.0002	0.0006	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0002	0.0012	0	0	0.0034	0.0004	0	0.0054	0.004	0.65419	D	0.322	0.19016	T	0.99	0.63424	D	0.885	0.62825	P	0.125549	0.18838	N	0.585786	0.999987	0.18198	N	1.625	0.41611	L	2.26	0.17596	T	-2.72	0.57920	D	0.507	0.53884	-1.0818	0.07003	T	0.067	0.27434	T	10	0.011768788	0.00256	T	0.006419	0.16899	T	0.178	0.44724	0.71	0.84601	0.618380283371	0.61529	0.5497210084814975	0.54898	0.0310260877546	0.03212	0.33335223794	0.15439	T	0.124785	0.45005	T	-0.455132	0.01053	T	-0.428648	0.30089	T	0.0727125078825543	0.09027	T	0.522848	0.17081	T	0.69327134	0.77689	0.5606023	0.74577	0.69327134	0.77691	0.5606023	0.74578	-3.713	0.19510	T	.	.	0.392	0.59103	A	.	.	2.124693	0.27044	17.33	0.99166651550720797	0.54269	0.15375	0.18881	N	AEFGBI	0.059832	0.11329	N	-0.327488970590743	0.28107	1.547628	-0.485264577639745	0.22559	1.225869	0.993551061809221	0.33262	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	3.57	0.40014	1.775000	0.38213	.	.	-0.113000	0.14837	0.358000	0.25825	0.000000	0.08366	0.003000	0.05239	0.0805:0.0:0.7641:0.1554	8.210	0.30636	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1459.33	37	chr9	21077768	.	G	C	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.75;SOR=0.7	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr9	21166582	21166582	C	T	exonic	IFNA21	.	nonsynonymous SNV	IFNA21:NM_002175:exon1:c.G31A:p.V11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0045665587845	.	0.000599042	8.364e-05	0.0003	0	0.0003	0	3.025e-05	0	0.0001	3.88e-05	6	154602	rs558841113	4.927e-05	4.925e-05	5.31e-05	4.539e-05	0.0001	3.993e-05	3.67e-05	5.85e-05	3.759e-05	0.0001	6.712e-05	0	7.557e-05	0	0	4.587e-05	3.313e-05	9.279e-05	0.0001	0.0001	0.0001	9.405e-05	0.0010	6.51e-05	5.322e-05	0.0004	0.0002	0.0002	0	6.542e-05	0	0.0010	0	0	1.471e-05	0	0.0004	0.039	0.42487	D	0.057	0.46406	T	0.007	0.14184	B	0.004	0.10090	B	0.797648	0.09348	N	0.889234	1	0.08975	N	0.145	0.08828	N	4.07	0.03033	T	0.81	0.01839	N	0.103	0.08646	-0.9295	0.44212	T	0.007	0.02558	T	10	0.06308895	0.08166	T	0.004567	0.11283	T	0.019	0.03383	0.583	0.70990	0.0551355673512	0.04727	0.29423068294994176	0.29336	0.0155887247478	0.01485	0.223822921515	0.01542	T	0.017584	0.14320	T	-0.514371	0.00474	T	-0.676311	0.07211	T	0.00892320041520784	0.00111	T	0.70513	0.31558	T	0.037491065	0.04815	0.048094884	0.07070	0.037491065	0.04814	0.048094884	0.07069	-4.999	0.36829	T	.	.	0.114	0.22500	B	.	.	0.515556	0.08842	5.623	0.78582229405382076	0.12363	0.00742	0.03097	N	AEFI	0.016121	0.00344	N	-1.3818431316409	0.02808	0.1245412	-1.4223893512667	0.03029	0.1405265	3.59817588367303E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.02	-1.12	0.09306	-0.525000	0.06302	.	.	-3.866000	0.00055	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3988:0.1726:0.4286:0.0	4.260	0.10184	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2936.33	34	chr9	21166582	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.88;MQRankSum=-0.405;QD=11.75;ReadPosRankSum=0.344;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1397	18	0	1	0
chr9	21206602	21206602	C	T	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G496A:p.V166I	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0067416697472	0.0047	0.00159744	0.0039	0.0008	0.0017	0	0.0050	0.0058	0.0066	0.0015	0.0036351	562	154602	rs111996205	0.0057	0.0057	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0008	0.0025	0.0025	2.519e-05	0.0039	0.0021	0.0068	0.0042	0.0014	0.0040	0.0040	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0014	0.0077	0.0022	0.0023	0	0.0038	0.0170	0.0064	0.0024	0.0017	0.428	0.09600	T	0.35	0.17478	T	0.01	0.15535	B	0.098	0.30479	B	0.211438	0.16356	N	0.603739	1	0.08975	N	0.94	0.23649	L	3.85	0.03650	T	-0.32	0.12283	N	0.05	0.02179	-0.9005	0.47942	T	0.005	0.01578	T	10	0.00878945	0.00199	T	0.006742	0.17812	T	0.058	0.16647	.	.	0.27479166964	0.27093	0.03224333483997631	0.03172	0.0781142600073	0.08789	0.403188467026	0.25513	T	0.00501	0.04439	T	-0.708063	0.00033	T	-0.784874	0.02309	T	0.00461180378071393	0.00049	T	0.857514	0.54691	D	0.05045114	0.09118	0.037917208	0.03546	0.05045114	0.09117	0.037917208	0.03546	-4.026	0.24192	T	.	.	0.106	0.19478	B	.	.	0.222896	0.06049	2.493	0.88614614976109141	0.18116	0.00202	0.01159	N	AEFI	0.016110	0.00343	N	-1.19330831079294	0.05100	0.2317409	-1.20526167517937	0.05825	0.2786405	7.05669080893917E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	-1.94	0.07158	-3.268000	0.00590	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0:0.324:0.0:0.676	8.684	0.33389	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003171	0.000000	0.004076	0.004098	0.000000	0.000000	0.003049	0.007576	0.02632	4386.33	33	chr9	21206602	.	C	T	4386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=1405;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.08;MQRankSum=-4.777;QD=11.22;ReadPosRankSum=0.57;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr9	21206606	21206606	C	G	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G492C:p.W164C	.	429	1073	18	2	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	.	0.0098	0.00459265	0.0079	0.0023	0.0052	0.0001	0.0017	0.0122	0.0055	0.0024	0.0075484	1167	154602	rs28368148	0.0100	0.0100	0.0101	0.0099	0.0142	0.0099	0.0098	0.0117	0.0116	0.0019	0.0048	0.0104	0	0.0019	0.0142	0.0119	0.0083	0.0023	0.0075	0.0075	0.0075	0.0075	0.0124	0.0071	0.0070	0.0117	0.0114	0.0020	0.0363	0.0054	0.0135	0.0002	0.0014	0.0136	0.0124	0.0052	0.0046	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.875	0.95948	H	0.95	0.43279	T	-12.4	0.99725	D	0.631	0.64478	-0.2456	0.76478	T	0.260	0.63099	T	10	0.01604718	0.00337	T	.	.	.	0.439	0.74306	0.918	0.98496	0.646423635972	0.64349	0.44082563080357867	0.43999	0.612382906504	0.55836	0.520053982735	0.41634	T	0.179058	0.52992	T	-0.381522	0.03048	T	-0.307832	0.43892	T	0.101624393453647	0.12535	T	0.993026	0.97738	D	0.8966187	0.91082	0.90249056	0.95153	0.8966187	0.91084	0.90249056	0.95153	-13.07	0.89649	D	.	.	0.892	0.82214	P	.	.	3.135943	0.42394	21.5	0.98962224787754005	0.49364	0.86592	0.45905	D	AEFI	0.205115	0.33150	N	0.647053327544148	0.76176	6.43878	0.512107039558338	0.68803	5.270837	0.034327583485472	0.14149	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	3.75	0.42236	2.592000	0.45836	.	.	0.470000	0.21925	1.000000	0.71638	0.001000	0.17328	0.923000	0.45890	0.0:1.0:0.0:0.0	12.916	0.57603	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008457	0.005051	0.006793	0.008197	0.050000	0.017241	0.018293	0.003788	0.02632	5569.33	33	chr9	21206606	.	C	G	5569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=1692;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.54;MQRankSum=-0.756;QD=12.63;ReadPosRankSum=-0.037;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr9	26917138	26917138	G	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon10:c.C1445T:p.S482L	.	432	1082	8	0	0	8	0.00368324	.	.	.	1452565	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.218	0.0243179632652	0.0005	0.000599042	0.0008	0.0006	0.0023	0	0.0002	0.0010	0	6.059e-05	0.0007503	116	154602	rs140970730	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0007	0.0030	0.0026	0.0002	0.0015	3.829e-05	0	0.0004	0.0043	0.0009	0.0009	0.0002	0.0007	0.0006	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	9.625e-05	0	0.0015	0	0	0.0004	0.0034	0.0009	0.0019	0	0.017	0.51248	D	0.232	0.27235	T	0.419	0.41872	B	0.035	0.23986	B	0.000107	0.50451	D	0.177387	1	0.81001	D	2.64	0.77224	M	0.4	0.57261	T	-2.66	0.56945	D	0.722	0.72388	-0.9401	0.42600	T	0.123	0.42547	T	10	0.064181	0.08473	T	0.024318	0.47307	T	0.218	0.51265	.	.	0.736095994272	0.73373	0.3869127882866225	0.38606	0.254493974337	0.28019	0.520802617073	0.41739	T	0.109529	0.42347	T	-0.0588391	0.43089	T	0.102172	0.77053	D	0.0430049764906576	0.04238	T	0.80002	0.44558	T	0.15282911	0.34673	0.16971284	0.39027	0.15282911	0.34673	0.16971284	0.39026	-6.474	0.50086	T	0.31082483336992506	0.40868	0.078	0.09675	B	.;.	.;.	3.447179	0.47979	22.5	0.99864419586410313	0.94276	0.98647	0.85104	D	AEFBI	0.627965	0.61023	D	0.310516362262114	0.56689	3.833913	0.45506537187777	0.65041	4.774036	0.999999727407085	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.549000	0.73800	11.911000	0.99583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.530	0.90940	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	859.33	35	chr9	26917138	.	G	A	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=681;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.841;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	18	0	1	0
chr9	26998232	26998232	A	-	exonic	LRRC19	.	frameshift deletion	LRRC19:NM_022901:exon3:c.91delT:p.C31Vfs*10	.	549	972	1	0	0	1	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.173e-05	0	0	0	0	2.165e-05	0	0	6.5e-06	1	154602	rs753871937	2.004e-05	1.918e-05	1.977e-05	2.032e-05	2.265e-05	1.394e-05	1.185e-05	1.508e-05	1.26e-05	0	0	0	0	0	0	2.265e-05	5.638e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	935.29	43	chr9	26998231	.	CA	C	935.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=705;ExcessHet=0;FS=9.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.3;SOR=2.049	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr9	27202942	27202942	G	A	exonic	TEK	.	nonsynonymous SNV	TEK:NM_001290078:exon11:c.G1591A:p.G531S,TEK:NM_001290077:exon12:c.G1903A:p.G635S,TEK:NM_001375476:exon12:c.G1903A:p.G635S,TEK:NM_000459:exon13:c.G2032A:p.G678S,TEK:NM_001375475:exon13:c.G2032A:p.G678S	Glaucoma 3, primary congenital, E, Autosomal dominant;Venous malformations, multiple cutaneous and mucosal, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	3612853	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0177682390863	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs758802336	1.847e-05	1.847e-05	1.77e-05	1.925e-05	0.0002	1.265e-05	1.084e-05	1.46e-05	1.227e-05	0	2.236e-05	0	2.52e-05	0	0.0002	2.158e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.042	0.41637	D	0.33	0.22084	T	1.0	0.90584	D	1.0	0.97372	D	0.000074	0.52346	D	0.000000	0.999752	0.48800	D	1.7	0.43825	L	2.33	0.16492	T	-3.51	0.70191	D	0.568	0.59138	-1.1199	0.02338	T	0.081	0.32031	T	10	0.55407274	0.64418	D	0.017768	0.39598	T	0.225	0.52323	0.6	0.73105	0.422872527889	0.41901	0.5443207386298146	0.54358	0.797753573997	0.66110	0.55578494072	0.46673	T	0.373262	0.73729	T	-0.173342	0.24729	T	-0.403905	0.32930	T	0.871051013469696	0.52094	D	0.911109	0.68490	D	0.54989785	0.69950	0.4718436	0.69379	0.54989785	0.69951	0.4718436	0.69380	-5.036	0.39506	T	0.13895065965298067	0.15419	0.144	0.33016	B	.;.;.	.;.;.	3.998104	0.58894	24.0	0.99885002914130105	0.96049	0.92588	0.56065	D	AEFBI	0.681045	0.64453	D	0.611289197010518	0.73886	6.040222	0.64961436918038	0.78580	6.905321	0.999992525722032	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.479000	0.66538	8.619000	0.77803	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.726	0.96157	746	0.52331	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	154	chr9	27202942	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=1718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.476;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1102	18	0	1	0
chr9	27291022	27291022	T	C	exonic	EQTN	.	nonsynonymous SNV	EQTN:NM_001161585:exon4:c.A331G:p.K111E,EQTN:NM_020641:exon5:c.A418G:p.K140E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00735319317269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	1.368e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.92824	D	0.974	0.57829	D	0.747	0.55931	P	0.007802	0.31183	N	0.150354	0.950034	0.26517	N	1.495	0.37439	L	0.82	0.48142	T	-2.54	0.55025	D	0.428	0.46742	-0.9569	0.39753	T	0.152	0.48101	T	10	0.21391657	0.37898	T	0.007353	0.19496	T	0.159	0.41286	0.415	0.45380	0.211220785272	0.20719	0.11178998026693387	0.11107	0.00512548817874	0.00452	0.433302432299	0.29661	T	0.030927	0.21803	T	-0.0798372	0.39741	T	-0.352457	0.38923	T	0.903466880321503	0.55668	D	0.550145	0.18957	T	0.5588338	0.70445	0.5482225	0.73881	0.5588338	0.70446	0.5482225	0.73882	-3.389	0.14909	T	.	.	0.229	0.51891	B	.;.	.;.	2.032984	0.25837	16.91	0.99575970001352232	0.72682	0.20125	0.20924	N	AEFGBI	0.108008	0.21501	N	0.0357144601508952	0.43486	2.640581	-0.0413974606890503	0.37865	2.222877	0.00374687490639904	0.10261	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.75	2.56	0.29842	0.471000	0.21811	1.441000	0.26527	0.609000	0.47794	0.777000	0.29437	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.2338:0.7662	7.014	0.24056	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.33	58	chr9	27291022	.	T	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=899;ExcessHet=0;FS=1.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.262;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	27949768	27949768	G	C	exonic	LINGO2	.	nonsynonymous SNV	LINGO2:NM_001354574:exon6:c.C904G:p.L302V,LINGO2:NM_001258282:exon7:c.C904G:p.L302V,LINGO2:NM_001354575:exon7:c.C904G:p.L302V,LINGO2:NM_152570:exon7:c.C904G:p.L302V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.0997795106584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	7.871e-05	4.092e-06	4.132e-06	5.408e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.408e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.03	0.54159	D	0.986	0.61523	D	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	-1.23	0.78860	T	-2.21	0.49684	N	0.907	0.90818	0.386	0.88881	D	0.665	0.88385	D	9	0.85711384	0.84913	D	0.09978	0.77164	D	0.705	0.89422	0.64	0.77687	0.735327200134	0.73296	0.7335851541418053	0.73303	0.652114185442	0.58417	0.761910796165	0.76213	T	0.130	0.45814	T	0.339968	0.85832	D	0.250564	0.85644	D	0.952414214611053	0.63786	D	0.90461	0.66442	D	0.37800357	0.59172	0.37095898	0.62335	0.37800357	0.59172	0.37095898	0.62335	-9.634	0.71690	D	.	.	0.204	0.43558	B	.;.;.	.;.;.	4.562301	0.71907	25.7	0.99580776273553073	0.72980	0.97069	0.72509	D	AEFGBI	0.763309	0.70045	D	0.79974658041287	0.86088	8.775051	0.782098205581997	0.88523	9.613777	0.312744460911409	0.19304	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	4.750000	0.61857	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.393	0.98966	606	0.67383	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.33	184	chr9	27949768	.	G	C	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.714;DP=1905;ExcessHet=0;FS=272.777;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.43;SOR=10.283	GT:AD:DP:GQ:PL	0/0:165,0:165:55:0,55,3886	18	0	1	0
chr9	32784220	32784220	G	A	exonic	TMEM215	.	nonsynonymous SNV	TMEM215:NM_212558:exon2:c.G37A:p.V13M	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00570930030457	0.0023	0.00259585	0.0020	0.0008	0.0005	0	0.0009	0.0028	0.0022	0.0020	0.0020246	313	154602	rs148075631	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0006	0.0008	0	0	0.0007	0.0017	0.0029	0.0022	0.0020	0.0015	0.0015	0.0017	0.0013	0.0026	0.0013	0.0013	0.0023	0.0022	0.0004	0	0.0012	0	0	0.0006	0	0.0026	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.982	0.75477	D	0.000011	0.62929	D	0.000000	0.998715	0.45323	D	1.04	0.26193	L	.	.	.	-3.0	0.62343	D	0.661	0.67045	-0.5713	0.65963	T	0.207	0.56594	T	9	0.0113509	0.00249	T	0.005709	0.14802	T	0.307	0.62838	.	.	0.0716867268079	0.06686	0.847586569749064	0.84719	0.923174689541	0.71542	0.809573411942	0.83428	D	0.145591	0.48278	T	-0.211888	0.19114	T	-0.0801901	0.64890	T	0.0251401476407087	0.01291	T	0.882712	0.60367	D	0.7261686	0.79507	0.77707905	0.86850	0.7261686	0.79508	0.77707905	0.86851	-3.847	0.21508	T	.	.	0.970	0.89359	P	.	.	5.077397	0.84722	28.4	0.99620192890225223	0.75353	0.85635	0.44789	D	AEFDBCI	0.646792	0.62220	D	0.595827767695314	0.72913	5.88124	0.625104581836217	0.76768	6.552249	0.999994894934338	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	5.31	5.31	0.75063	5.934000	0.69855	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.471	0.83954	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3251.33	34	chr9	32784220	.	G	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.277;DP=872;ExcessHet=0;FS=3.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.44;SOR=0.92	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1404	18	0	1	0
chr9	32987570	32987570	T	C	exonic	APTX	.	nonsynonymous SNV	APTX:NM_001195250:exon3:c.A295G:p.K99E,APTX:NM_001195254:exon3:c.A295G:p.K99E,APTX:NM_001369000:exon3:c.A295G:p.K99E,APTX:NM_001369001:exon3:c.A295G:p.K99E,APTX:NM_001369004:exon3:c.A193G:p.K65E,APTX:NM_001195248:exon4:c.A457G:p.K153E,APTX:NM_001195249:exon4:c.A457G:p.K153E,APTX:NM_001368995:exon4:c.A457G:p.K153E,APTX:NM_001368996:exon4:c.A457G:p.K153E,APTX:NM_001368997:exon4:c.A457G:p.K153E,APTX:NM_001368998:exon4:c.A457G:p.K153E,APTX:NM_001368999:exon4:c.A457G:p.K153E,APTX:NM_001369002:exon4:c.A193G:p.K65E,APTX:NM_001369003:exon4:c.A193G:p.K65E,APTX:NM_001369006:exon4:c.A193G:p.K65E,APTX:NM_001370669:exon4:c.A193G:p.K65E,APTX:NM_001370670:exon4:c.A193G:p.K65E,APTX:NM_001370673:exon4:c.A193G:p.K65E,APTX:NM_175069:exon4:c.A457G:p.K153E,APTX:NM_001195251:exon5:c.A457G:p.K153E,APTX:NM_001369005:exon5:c.A193G:p.K65E,APTX:NM_175073:exon5:c.A457G:p.K153E	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1156200	not_specified|Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia|not_provided	MedGen:CN169374|MONDO:MONDO:0008842,MedGen:C1859598,OMIM:208920,Orphanet:1168|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	.	0.0032	0.00419329	0.0010	0.0114	0.0005	0	0	1.498e-05	0	0	0.0010479	162	154602	rs34634937	0.0004	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0006	0	0	0	0.0002	8.093e-06	0.0008	1.159e-05	0.0033	0.0033	0.0035	0.0031	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0012	0	0	0	0	0	0.0038	0	0.254	0.50676	T	0.491	0.13713	T	0.013	0.36905	B	0.018	0.36839	B	0.656121	0.10469	N	0.870824	1	0.81001	D	1.64	0.41913	L	-1.85	0.91478	D	-0.73	0.20576	N	0.108	0.17140	-0.4328	0.70974	T	0.499	0.81077	T	10	0.0044230223	0.00090	T	.	.	.	0.155	0.40530	.	.	0.954182865946	0.95369	0.228097369366108	0.22724	0.0762252314708	0.08556	0.420480102301	0.27902	T	0.083068	0.36970	T	-0.316515	0.07187	T	-0.217041	0.53021	T	0.0128660427292006	0.00220	T	0.784422	0.59164	T	0.1257716	0.29475	0.0797531	0.17982	0.11170528	0.26396	0.06378073	0.12684	-4.879	0.42241	T	.	.	0.066	0.03698	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.655655	0.21119	15.06	0.98901663454674771	0.48199	0.39073	0.26131	N	AEFBI	0.151691	0.27623	N	-0.469122846836289	0.23096	1.237926	-0.404801313444161	0.24855	1.363481	0.579337237204205	0.21557	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.37	4.23	0.49319	1.665000	0.37066	3.794000	0.39841	0.665000	0.62972	0.068000	0.22015	1.000000	0.68203	0.261000	0.23543	0.0:0.0906:0.0:0.9094	7.940	0.29117	533	0.73433	.;.;.;.;.;.;.;.;HIT-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	5554.33	42	chr9	32987570	.	T	C	5554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.113;DP=1102;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.256;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	0
chr9	33465786	33465786	G	A	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon19:c.C2476T:p.R826C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0173930030548	0.0012	0.000399361	0.0012	0.0006	0.0008	0	0.0007	0.0016	0.0012	0.0010	0.0011643	180	154602	rs115142129	0.0018	0.0018	0.0018	0.0018	0.0021	0.0017	0.0017	0.0020	0.0020	0.0004	0.0005	0	2.52e-05	0.0005	0.0003	0.0021	0.0014	0.0010	0.0013	0.0013	0.0013	0.0013	0.0022	0.0012	0.0011	0.0020	0.0018	0.0006	0	0.0008	0	0	0.0004	0	0.0022	0.0009	0.0010	0.109	0.31383	T	0.106	0.37872	T	0.002	0.09854	B	0.0	0.01387	B	0.411818	0.12987	N	0.760397	0.92254	0.36721	D	1.87	0.49600	L	0.94	0.43672	T	-1.89	0.51157	N	0.223	0.25006	-1.0174	0.24560	T	0.097	0.36341	T	10	0.02312702	0.00596	T	0.017393	0.39069	T	0.076	0.22200	.	.	0.200294437569	0.19612	.	.	0.258625416402	0.28424	0.250836849213	0.03857	T	0.03677	0.24227	T	-0.537512	0.00347	T	-0.551042	0.17225	T	0.0143435864845985	0.00287	T	0.589541	0.23898	T	0.053804107	0.10234	0.049552698	0.07596	0.053804107	0.10233	0.049552698	0.07596	-8.497	0.64410	D	.	.	0.076	0.08560	B	.;.	.;.	1.749934	0.22263	15.55	0.97846921095446304	0.36365	0.79767	0.39592	D	AEFDBI	0.284578	0.39741	N	-0.453157282086646	0.23633	1.27048	-0.323561150214488	0.27339	1.516365	0.991465568210644	0.32498	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	4.13	0.47661	1.158000	0.31347	-0.035000	0.12744	-1.565000	0.00942	0.776000	0.29426	0.000000	0.08366	0.377000	0.26268	0.1281:0.0:0.7516:0.1203	9.131	0.36007	573	0.70213	Nrap protein, domain 4;Nrap protein, domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1130.33	36	chr9	33465786	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.469;DP=718;ExcessHet=0;FS=5.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.56;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1208	18	0	1	0
chr9	33466953	33466953	C	T	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon15:c.G1909A:p.V637M,NOL6:NM_139235:exon15:c.G1909A:p.V637M	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0108225314448	0.0004	.	0.0002	0	0	0	0	0.0003	0	0	0.0001617	25	154602	rs147891900	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	2.987e-05	6.71e-05	0	0	0	0.0002	0.0007	0.0006	0.0002	0.0004	0.0004	0.0005	0.0002	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	6.541e-05	0	0	0	0	0.0007	0	0	0.083	0.33091	T	0.115	0.36630	T	0.041	0.21357	B	0.041	0.24256	B	0.908006	0.07397	N	1.038600	0.637248	0.31050	N	1.5	0.37844	L	0.92	0.44461	T	-1.23	0.31170	N	0.246	0.28732	-0.9498	0.41006	T	0.092	0.34983	T	10	0.08280507	0.13707	T	0.010823	0.27789	T	0.039	0.10176	.	.	0.258436476835	0.25460	.	.	0.21197876051	0.23697	0.336866974831	0.15968	T	0.018735	0.15049	T	-0.472982	0.00815	T	-0.599109	0.12886	T	0.0423054002981752	0.04110	T	0.820318	0.48050	T	0.06804596	0.14790	0.065660894	0.13339	0.06804596	0.14789	0.065660894	0.13338	-7.253	0.56238	T	.	.	0.098	0.19958	B	.;.;.	.;.;.	1.799244	0.22867	15.79	0.9822177577694341	0.39307	0.69723	0.34301	D	AEFGBHCI	0.078505	0.15840	N	-0.450642851361728	0.23718	1.275646	-0.343905477087891	0.26697	1.476372	0.999572130359	0.40495	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.73	0.96	0.18753	0.495000	0.22191	1.430000	0.26439	0.599000	0.40250	0.273000	0.25075	1.000000	0.68203	0.955000	0.50612	0.0:0.4682:0.0:0.5318	10.007	0.41133	575	0.70088	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1984.33	36	chr9	33466953	.	C	T	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1271	18	0	1	0
chr9	33548324	33548324	C	G	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon9:c.C1347G:p.D449E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0047086151746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.275	0.22016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	2.27	0.17431	T	-2.05	0.47008	N	0.112	0.09914	-1.0277	0.21200	T	0.030	0.12935	T	5	0.1182906	0.22359	T	0.004709	0.11722	T	0.054	0.15330	0.368	0.37687	0.221734844693	0.21761	0.056871728294846	0.05628	0.0172093298867	0.01670	0.797339856625	0.81558	T	0.02433	0.18404	T	-0.341355	0.05294	T	-0.728109	0.04413	T	0.0766162768561712	0.09548	T	0.369163	0.08660	T	0.059591915	0.12130	0.059026353	0.11008	0.059591915	0.12129	0.059026353	0.11008	-2.686	0.07186	T	.	.	0.223	0.45372	B	.	.	0.954526	0.13308	9.810	0.79774029980579675	0.12894	0.16848	0.19576	N	AEFBI	0.061913	0.11870	N	-0.514986205869522	0.21595	1.147206	-0.671432942498338	0.17677	0.9409819	0.376448138056617	0.19920	0.50712	0.20391	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	1.61	1.61	0.22752	0.095000	0.14966	-4.436000	0.02157	0.296000	0.18849	0.471000	0.26730	0.000000	0.08366	0.001000	0.02609	0.3416:0.6584:0.0:0.0	5.221	0.14687	716	0.55970	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5577.81	36	chr9	33548324	.	C	G	5577.81	.	AC=2;AF=0.053;AN=38;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.57;QD=33.6;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	1	0	0
chr9	33933599	33933599	G	T	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon16:c.C1840A:p.L614I,UBAP2:NM_001370064:exon17:c.C1726A:p.L576I,UBAP2:NM_001370068:exon17:c.C1885A:p.L629I,UBAP2:NM_001370059:exon18:c.C1999A:p.L667I,UBAP2:NM_001370062:exon18:c.C1999A:p.L667I,UBAP2:NM_018449:exon18:c.C1999A:p.L667I,UBAP2:NM_001370066:exon19:c.C1885A:p.L629I	.	419	1100	3	0	0	3	0.00136178	.	.	.	723552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0114	0.0091853	0.0032	0.0357	0.0014	0	0	2.998e-05	0	6.057e-05	0.0029624	458	154602	rs77256659	0.0010	0.0010	0.0012	0.0009	0.0375	0.0010	0.0010	0.0358	0.0351	0.0375	0.0015	0	0	0	0.0010	1.259e-05	0.0023	4.637e-05	0.0095	0.0095	0.0097	0.0093	0.0327	0.0091	0.0089	0.0313	0.0307	0.0327	0	0.0041	0	0	0	0.0034	7.35e-05	0.0066	0.0002	0.049	0.39820	D	0.479	0.11933	T	0.999	0.77913	D	0.996	0.84481	D	0.007035	0.31644	N	0.299562	0.984798	0.25567	N	2.25	0.63811	M	2.6	0.13204	T	-0.39	0.13611	N	0.432	0.47115	-1.1241	0.02087	T	0.028	0.11926	T	10	0.0070630014	0.00161	T	.	.	.	0.099	0.28413	.	.	0.110392049598	0.10638	0.185603647649575	0.18478	0.413640024511	0.42060	0.390889883041	0.23795	T	0.044099	0.26711	T	-0.47058	0.00843	T	-0.422969	0.30736	T	0.023263530734831	0.01055	T	0.814918	0.46941	T	0.07178126	0.15916	0.06310726	0.12451	0.07178126	0.15916	0.06310726	0.12451	-5.238	0.39326	T	.	.	0.076	0.06024	B	.;.	.;.	4.108388	0.61310	24.3	0.99562199871086821	0.71831	0.93284	0.57806	D	AEFDBI	0.362509	0.45174	N	0.505508847001764	0.67415	5.078605	0.495432604476477	0.67685	5.117459	0.99998732549564	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.8	4.9	0.63643	3.433000	0.52597	8.501000	0.77359	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.1358:0.0:0.8642:0.0	11.571	0.50086	306	0.87689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1180.33	34	chr9	33933599	.	G	T	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.158;DP=731;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.464;SOR=1.088	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1280.33	41	chr9	34093402	.	G	A	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.721;DP=779;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.55;SOR=0.924	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr9	34249804	34249804	C	T	exonic	UBAP1	.	nonsynonymous SNV	UBAP1:NM_001171201:exon4:c.C1301T:p.S434L,UBAP1:NM_001171202:exon4:c.C1217T:p.S406L,UBAP1:NM_016525:exon5:c.C1109T:p.S370L,UBAP1:NM_001171203:exon6:c.C1109T:p.S370L,UBAP1:NM_001171204:exon6:c.C1109T:p.S370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00438407823762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.08310	T	0.23	0.31527	T	0.003	0.11197	B	0.006	0.12133	B	0.130705	0.18649	N	0.497022	0.996576	0.81001	D	1.185	0.30054	L	0.63	0.53088	T	-1.14	0.29323	N	0.473	0.64563	-1.0680	0.09858	T	0.068	0.27980	T	10	0.15444279	0.29132	T	0.004384	0.10687	T	0.141	0.37795	0.317	0.29419	0.553543533689	0.55011	0.37376644925967334	0.37290	.	.	0.549736261368	0.45820	T	0.101919	0.40914	T	0.0316503	0.55942	T	-0.192313	0.55373	T	0.48945090174675	0.32244	T	0.878012	0.59262	D	0.07192578	0.15961	0.0744052	0.16272	0.07192578	0.15960	0.0744052	0.16271	-3.688	0.19761	T	.	.	0.091	0.13221	B	.;.;.;.	.;.;.;.	3.560906	0.50099	22.9	0.99599902276705643	0.74160	0.87602	0.47195	D	AEFDBCI	0.358369	0.44907	N	-0.189346563426055	0.33578	1.906524	0.04621901035971	0.41888	2.524258	0.999999995428465	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	2.808000	0.47660	7.472000	0.59162	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9249:0.0:0.0751	12.597	0.55830	293	0.88320	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr9	34249804	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.027;DP=745;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=3.53;SOR=0.484	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1407	18	0	1	0
chr9	34256947	34256947	T	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.A2660T:p.D887V	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00647663548262	0.0002	0.000199681	4.119e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs141167651	1.437e-05	1.436e-05	2.178e-05	6.876e-06	0.0004	9.23e-06	7.84e-06	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0	8.994e-07	3.313e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.076	0.34269	T	0.261	0.23707	T	0.001	0.07471	B	0.001	0.04355	B	0.437655	0.04741	N	1.392360	1	0.08975	N	1.59	0.40313	L	1.55	0.29866	T	-1.98	0.51478	N	0.085	0.07673	-1.0088	0.27292	T	0.036	0.15726	T	10	0.023698151	0.00628	T	0.006477	0.17072	T	0.018	0.03083	.	.	0.260735089382	0.25697	0.10546232764138838	0.10476	.	.	0.200875893235	0.00483	T	0.004438	0.03847	T	-0.620112	0.00110	T	-0.746557	0.03622	T	0.0112345822142009	0.00165	T	0.622538	0.23960	T	0.10859688	0.25678	0.06312191	0.12455	0.10859688	0.25677	0.06312191	0.12454	-3.243	0.13945	T	.	.	0.097	0.18787	B	.;.	.;.	0.519479	0.08885	5.662	0.77528084989165136	0.11913	0.06609	0.12625	N	AEFDBI	0.095270	0.19250	N	-1.39572664810513	0.02678	0.118591	-1.46137168449755	0.02669	0.1231721	0.999998050488134	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.03	-5.63	0.02276	-0.740000	0.04966	-0.778000	0.07467	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.465000	0.28230	0.1059:0.2217:0.1061:0.5664	4.002	0.09073	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	40	chr9	34256947	.	T	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.851;DP=857;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.905;SOR=0.913	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr9	34311319	34311319	A	G	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.T28C:p.C10R	.	432	1089	0	1	0	2	0.000917431	.	.	.	2332350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.274	0.0136335349244	.	.	8.53e-05	0	0	0.0007	0	1.883e-05	0.0014	9.446e-05	5.17e-05	8	154602	rs771597033	4.953e-05	4.994e-05	4.421e-05	5.496e-05	0.0010	4.004e-05	3.676e-05	0.0008	0.0007	0	0	0	0.0010	0	0	1.549e-05	8.461e-05	0.0001	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	0.057	0.37966	T	0.826	0.03761	T	0.984	0.60733	D	0.825	0.59331	P	0.036116	0.24562	N	0.205916	0.999992	0.58761	D	0.55	0.14455	N	0.95	0.43279	T	-5.49	0.89211	D	0.675	0.71321	-1.0582	0.12209	T	0.101	0.37316	T	10	0.41555658	0.56517	T	0.013634	0.33179	T	0.274	0.59007	0.52	0.62217	0.711402520684	0.70887	0.5054947116060323	0.50471	.	.	0.775542616844	0.78255	T	0.061829	0.31757	T	-0.268071	0.11972	T	-0.249391	0.49878	T	0.297580726971376	0.24904	T	0.70163	0.31127	T	0.881924	0.89826	0.8019369	0.88391	0.881924	0.89827	0.8019369	0.88392	-2.013	0.03567	T	.	.	0.291	0.54116	B	.;.	.;.	4.453594	0.69252	25.3	0.99618161641422531	0.75233	0.93929	0.59602	D	AEFDBI	0.784563	0.71521	D	0.225690528173881	0.52447	3.418783	0.323525886801011	0.56927	3.856748	0.999999996357292	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	5.109000	0.64456	11.145000	0.87183	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.388	0.74437	227	0.91186	Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	693.33	45	chr9	34311319	.	A	G	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=769;ExcessHet=0;FS=4.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.126;SOR=1.278	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	34490387	34490389	GAA	-	exonic	DNAI1	.	nonframeshift deletion	DNAI1:NM_001281428:exon7:c.532_534del:p.E180del,DNAI1:NM_012144:exon7:c.520_522del:p.E176del	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	240608	Kartagener_syndrome|Primary_ciliary_dyskinesia|DNAI1-related_disorder	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	9.614e-05	0.0003	0.0002	0	2.997e-05	0.0011	0.0031	0.0003946	61	154602	rs1262472092	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	0	0.0001	0	0.0002	0	0.0009	3.417e-05	0.0003	0.0038	0.0002	0.0002	5.141e-05	0.0003	0.0031	0.0001	9.698e-05	0.0019	0.0015	2.407e-05	0	0.0002	0	0.0002	0	0	7.351e-05	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005629	0.010638	0.002740	0.000000	0.000000	0.000000	0.006211	0.007634	0.02632	1611.29	36	chr9	34490386	.	TGAA	T	1611.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.281;DP=707;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.69;ReadPosRankSum=0.961;SOR=0.415	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	34500798	34500798	A	C	exonic	DNAI1	.	nonsynonymous SNV	DNAI1:NM_001281428:exon11:c.A990C:p.Q330H,DNAI1:NM_012144:exon11:c.A978C:p.Q326H	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	240610	Kartagener_syndrome|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.296	.	0.0116	0.0101837	0.0031	0.0331	0.0015	0	0	4.515e-05	0.0056	6.122e-05	0.0029754	460	154602	rs16931555	0.0010	0.0010	0.0011	0.0009	0.0342	0.0009	0.0009	0.0326	0.0319	0.0342	0.0019	0	0	0	0.0035	3.507e-05	0.0025	9.275e-05	0.0097	0.0097	0.0099	0.0095	0.0328	0.0093	0.0091	0.0313	0.0308	0.0328	0	0.0061	0	0	0	0.0068	7.35e-05	0.0071	0	0.559	0.06401	T	0.576	0.08624	T	0.005	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.985071	0.40232	D	2.06	0.56677	M	-1.08	0.77078	T	-1.93	0.44852	N	0.535	0.56748	-0.9664	0.37934	T	0.113	0.40307	T	10	0.00628832	0.00142	T	.	.	.	0.296	0.61616	0.124	0.03018	0.82742518124	0.82579	0.6519240489992135	0.65128	0.108361906131	0.12219	0.625535845757	0.56512	T	0.031436	0.53388	T	-0.346298	0.04963	T	-0.244447	0.50362	T	0.00384680393901335	0.00041	T	0.89931	0.64723	D	0.16033365	0.35968	0.11618998	0.28049	0.18749651	0.40206	0.14885767	0.35170	-7.939	0.60653	D	0.12992243754010682	0.13618	0.211	0.43935	B	.;.	.;.	2.197039	0.28021	17.66	0.86045798238912619	0.16278	0.31774	0.24422	N	ALL	0.315613	0.42013	N	-0.445455935132924	0.23894	1.286391	-0.320149962067001	0.27448	1.523159	0.999999948734795	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.99	1.37	0.21200	1.900000	0.39460	1.945000	0.29852	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6164:0.0:0.3836:0.0	6.794	0.22901	293	0.88320	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.012228	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	3518.33	34	chr9	34500798	.	A	C	3518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=1066;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.688;SOR=0.66	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	34725051	34725051	G	A	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.C2189T:p.P730L	.	416	1104	2	0	0	2	0.000904977	.	.	.	3326523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0296278384954	0.0031	0.000399361	0.0010	0.0004	0	0	0	0.0019	0	0.0006	0.0003105	48	154602	rs201196002	0.0020	0.0020	0.0022	0.0019	0.0024	0.0020	0.0020	0.0024	0.0023	0.0005	0.0021	3.971e-05	0	2.025e-05	0.0002	0.0024	0.0019	0.0004	0.0015	0.0015	0.0015	0.0015	0.0029	0.0013	0.0013	0.0023	0.0020	0.0006	0	0.0029	0.0003	0	0	0	0.0022	0.0009	0.0002	0.139	0.25768	T	0.651	0.06713	T	0.357	0.33788	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	1.42	0.35681	L	0.48	0.55945	T	-5.56	0.86296	D	0.08	0.05542	-1.0548	0.13093	T	0.071	0.28839	T	9	0.0066292584	0.00150	T	0.029628	0.52101	D	0.064	0.18567	.	.	0.256283259241	0.25257	0.1578384741936185	0.15704	.	.	0.259660661221	0.04851	T	0.01357	0.11716	T	-0.575721	0.00205	T	-0.605618	0.12344	T	0.0175933337652726	0.00492	T	0.60344	0.22635	T	0.04697243	0.07952	0.080289274	0.18149	0.04697243	0.07951	0.080289274	0.18149	-3.185	0.12298	T	.	.	0.109	0.20857	B	.	.	1.072063	0.14545	11.11	0.87542543851102106	0.17303	0.02236	0.06491	N	AEFGI	0.027218	0.02186	N	-0.877264391834544	0.11385	0.5491259	-0.896023506851977	0.12188	0.6254743	0.212608527730083	0.18258	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.249	0.14790	0.133000	0.15736	-1.301000	0.05774	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.783000	0.37026	0.4122:0.0:0.5878:0.0	7.587	0.27167	460	0.78750	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	65.33	179	chr9	34725051	.	G	A	65.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.109;DP=2137;ExcessHet=0;FS=0.906;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.6;MQRankSum=-2.986;QD=0.42;ReadPosRankSum=-0.12;SOR=0.534	GT:AD:DP:GQ:PL	0/1:136,20:156:79:79,0,5079	18	0	1	0
chr9	34728058	34728058	G	C	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon3:c.C215G:p.A72G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00993855200697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.145e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.194	0.28120	T	0.998	0.73220	D	0.947	0.68407	D	0.927224	0.08446	U	0.945458	0.998981	0.21738	N	3.07	0.87108	M	1.75	0.26152	T	-2.19	0.49352	N	0.237	0.26717	-1.0446	0.15942	T	0.127	0.43421	T	10	0.15398198	0.29054	T	0.009939	0.25878	T	0.049	0.13647	0.198	0.11110	0.136095386433	0.13204	0.026729605435350186	0.02622	.	.	0.376287698746	0.21729	T	0.014406	0.12270	T	-0.184332	0.23093	T	-0.502556	0.22083	T	0.858574151992798	0.50922	D	0.717028	0.32946	T	0.15866643	0.35685	0.18348075	0.41340	0.15866643	0.35684	0.18348075	0.41339	-4.285	0.27966	T	.	.	0.133	0.28693	B	.	.	3.610713	0.51048	23.0	0.99192174247487519	0.55024	0.13474	0.17876	N	AEFDBI	0.110265	0.21872	N	0.21060842854183	0.51711	3.350378	0.107968170408209	0.44954	2.767424	0.498734386261873	0.20924	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	3.56	0.39892	1.022000	0.29655	0.901000	0.22550	0.662000	0.56354	0.299000	0.25315	0.000000	0.08366	0.789000	0.37270	0.1092:0.0:0.8908:0.0	8.265	0.30966	460	0.78750	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	35	chr9	34728058	.	G	C	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.081;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	34976212	34976212	C	T	exonic	PHF24	.	nonsynonymous SNV	PHF24:NM_001304333:exon4:c.C625T:p.R209W,PHF24:NM_001347982:exon4:c.C625T:p.R209W,PHF24:NM_001347983:exon4:c.C625T:p.R209W,PHF24:NM_015297:exon4:c.C625T:p.R209W	.	433	1087	2	0	0	2	0.000919118	.	.	.	3467080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.0351015021008	0.0002	0.000199681	9.111e-05	0.0006	0	0	0	5.995e-05	0	6.058e-05	7.76e-05	12	154602	rs189099874	3.968e-05	4.173e-05	4.629e-05	3.301e-05	0.0005	3.113e-05	2.847e-05	0.0003	0.0002	0.0005	4.472e-05	0	2.519e-05	0	0	2.608e-05	6.624e-05	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.927	0.51527	P	0.292	0.40739	B	0.005746	0.32538	N	0.298386	0.834918	0.34975	D	.	.	.	1.91	0.23283	T	-3.76	0.71276	D	0.369	0.41063	-1.0594	0.11905	T	0.043	0.18285	T	10	0.10198665	0.18667	T	0.035102	0.56125	D	0.124	0.34239	.	.	0.082315109003	0.07666	0.5533148904295249	0.55257	0.66949931502	0.59350	0.268622338772	0.05962	T	0.211378	0.57213	T	-0.39988	0.02319	T	-0.443427	0.28424	T	0.166713935777025	0.18353	T	0.935306	0.75759	D	0.17770204	0.38750	0.26136175	0.51912	0.17770204	0.38749	0.26136175	0.51911	-8.357	0.63478	D	.	.	0.103	0.18414	B	.	.	4.392931	0.67805	25.1	0.98784724187096162	0.46190	0.95388	0.64525	D	AEFBI	0.673909	0.63981	D	-0.168103786744592	0.34468	1.967679	-0.0830958658863651	0.36087	2.095812	0.987050058958634	0.31176	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	4.3	0.50540	3.221000	0.50917	3.338000	0.37683	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2636:0.7364:0.0:0.0	14.504	0.67324	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	34	chr9	34976212	.	C	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=714;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.237;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	18	0	1	0
chr9	35042418	35042418	G	A	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_203299:exon1:c.G164A:p.R55K,C9orf131:NM_001040412:exon2:c.G20A:p.R7K	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0062	0.00419329	0.0017	0.0185	0.0009	0	0	2.997e-05	0	6.056e-05	0.0015588	241	154602	rs35629439	0.0006	0.0006	0.0007	0.0006	0.0203	0.0006	0.0006	0.0191	0.0186	0.0203	0.0010	0	0	0	0.0016	2.248e-05	0.0019	4.637e-05	0.0055	0.0055	0.0054	0.0055	0.0194	0.0052	0.0050	0.0183	0.0178	0.0194	0	0.0012	0	0	0	0	2.94e-05	0.0033	0	0.162	0.27663	T	0.3	0.20357	T	0.15	0.27995	B	0.072	0.28043	B	0.002391	0.36650	N	0.125415	0.972415	0.81001	D	1.245	0.31408	L	2.33	0.18570	T	-0.24	0.28084	N	0.217	0.30118	-1.0504	0.14285	T	0.013	0.05129	T	10	0.007120818	0.00162	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.14278985955004578	0.14201	0.0134066759332	0.01290	.	.	.	0.003575	0.02980	T	-0.495063	0.00609	T	-0.468963	0.25627	T	0.0469433721092072	0.04955	T	0.432757	0.17058	T	0.08981405	0.20996	0.12937663	0.31110	0.08981405	0.20995	0.12937663	0.31109	-3.747	0.27126	T	.	.	0.176	0.38409	B	.;.	.;.	2.091347	0.26601	17.18	0.80336639086768358	0.13155	0.62554	0.31817	D	AEFDGBCIJ	0.116877	0.22920	N	-0.459727400369844	0.23412	1.257046	-0.357574911957415	0.26275	1.450274	0.999999983388207	0.74766	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	4.78	2.94	0.33188	1.725000	0.37696	2.702000	0.34168	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.1971:0.0:0.8029:0.0	7.424	0.26260	110	0.95498	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2822.33	34	chr9	35042418	.	G	A	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=844;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-2.488;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr9	35045031	35045031	G	A	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.G2297A:p.R766K,C9orf131:NM_001040411:exon2:c.G2183A:p.R728K,C9orf131:NM_001287391:exon2:c.G2183A:p.R728K,C9orf131:NM_203299:exon2:c.G2402A:p.R801K,C9orf131:NM_001040412:exon3:c.G2258A:p.R753K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00415734143101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13971	T	0.678	0.07816	T	0.172	0.28767	B	0.071	0.27960	B	0.082616	0.20799	N	0.358348	1	0.08975	N	1.1	0.28011	L	2.56	0.13673	T	-0.73	0.20576	N	0.075	0.06059	-1.0565	0.12646	T	0.029	0.12629	T	10	0.06797993	0.09549	T	0.004157	0.09995	T	0.022	0.04323	0.123	0.02942	0.0138822411134	0.00435	0.10952956135702308	0.10881	0.0883708896592	0.09985	.	.	.	0.006159	0.05598	T	-0.36267	0.03981	T	-0.758727	0.03158	T	0.220206218150175	0.21474	T	0.577942	0.20808	T	0.05830869	0.11715	0.044341143	0.05722	0.05830869	0.11715	0.044341143	0.05721	-3.437	0.16812	T	.	.	0.130	0.28086	B	.;.;.	.;.;.	1.784352	0.22686	15.72	0.81304352369040345	0.13619	0.01758	0.05530	N	AEFBI	.	.	.	-0.71241810791662	0.15672	0.7918777	-0.794773957796162	0.14623	0.7650192	0.992755160714345	0.32956	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.99	1.93	0.24985	0.101000	0.15088	1.904000	0.29601	0.676000	0.76740	0.016000	0.19238	0.874000	0.27626	0.039000	0.14166	0.1333:0.2365:0.6301:0.0	4.390	0.10765	105	0.95676	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2477.33	46	chr9	35045031	.	G	A	2477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=924;ExcessHet=0;FS=2.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.328;SOR=0.949	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	35045208	35045208	C	T	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.C2474T:p.S825F,C9orf131:NM_001040411:exon2:c.C2360T:p.S787F,C9orf131:NM_001287391:exon2:c.C2360T:p.S787F,C9orf131:NM_203299:exon2:c.C2579T:p.S860F,C9orf131:NM_001040412:exon3:c.C2435T:p.S812F	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00399361	0.0018	9.61e-05	0.0002	0.0016	0	0	0.0011	0.0124	0.0016171	250	154602	rs114058202	0.0009	0.0009	0.0005	0.0013	0.0136	0.0008	0.0008	0.0130	0.0127	5.974e-05	4.472e-05	0	0.0009	0	0.0007	7.194e-06	0.0009	0.0136	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0005	0.0142	0.0131	2.408e-05	0	0	0	0.0012	0	0	0	0	0.0172	0.068	0.37750	T	0.078	0.42614	T	0.246	0.31102	B	0.094	0.30180	B	0.771055	0.06598	N	1.138220	1	0.08975	N	0.69	0.16971	N	2.46	0.14907	T	-0.85	0.23156	N	0.156	0.20528	-0.9847	0.33903	T	0.036	0.15553	T	10	0.0026289225	0.00040	T	.	.	.	0.007	0.00512	.	.	0.0884992946249	0.08302	0.11655294041468936	0.11583	0.0201779511709	0.01977	.	.	.	0.002006	0.01413	T	-0.628059	0.00098	T	-0.663908	0.08005	T	0.00733321727292316	0.00084	T	0.555844	0.19272	T	0.06191047	0.12872	0.084508315	0.19445	0.06191047	0.12871	0.084508315	0.19445	-4.974	0.36916	T	.	.	0.144	0.31832	B	.;.;.	.;.;.	0.562486	0.09308	6.092	0.78237114923569107	0.12214	0.00313	0.01653	N	AEFBI	.	.	.	-0.994473774484119	0.08721	0.4100027	-1.08645527844553	0.07966	0.3896767	0.98740930161531	0.31257	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	4.19	0.418	0.15647	-0.300000	0.08280	-1.352000	0.05645	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4868:0.0:0.5132	6.135	0.19444	105	0.95676	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	2451.33	46	chr9	35045208	.	C	T	2451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.731;DP=975;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.107;SOR=0.606	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	35045618	35045618	C	G	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.C2884G:p.Q962E,C9orf131:NM_001040411:exon2:c.C2770G:p.Q924E,C9orf131:NM_001287391:exon2:c.C2770G:p.Q924E,C9orf131:NM_203299:exon2:c.C2989G:p.Q997E,C9orf131:NM_001040412:exon3:c.C2845G:p.Q949E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00363671136361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.399	0.15059	T	0.562	0.38380	P	0.275	0.40079	B	0.036403	0.24525	N	0.297068	1	0.08975	N	2.485	0.72352	M	2.26	0.17761	T	-1.38	0.34198	N	0.167	0.25499	-1.0533	0.13493	T	0.034	0.14769	T	10	0.11531788	0.21721	T	0.003637	0.08371	T	0.081	0.23632	0.09	0.01023	0.0138822411134	0.00435	0.05682822559697641	0.05623	0.0157027306126	0.01500	.	.	.	0.016213	0.13446	T	-0.219734	0.18030	T	-0.553409	0.17001	T	0.495439022779465	0.32463	T	0.747925	0.36851	T	0.101230375	0.23911	0.10866739	0.26178	0.101230375	0.23910	0.10866739	0.26177	-4.279	0.27881	T	.	.	0.113	0.22464	B	.;.;.	.;.;.	1.958087	0.24871	16.56	0.98032097371727411	0.37720	0.08423	0.14354	N	AEFGBI	.	.	.	-0.641952686554203	0.17695	0.9127295	-0.700799084341228	0.16940	0.8985299	0.958797282093481	0.28385	0.498214	0.20090	0	0.514364	0.08380	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.72	2.77	0.31614	0.315000	0.19200	1.337000	0.25710	-0.180000	0.10397	0.035000	0.20724	0.005000	0.19230	0.025000	0.12405	0.3641:0.6359:0.0:0.0	9.995	0.41065	104	0.95701	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1661.33	46	chr9	35045618	.	C	G	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.927;DP=854;ExcessHet=0;FS=13.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.059;SOR=1.276	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	35095222	35095222	G	C	exonic	PIGO	.	nonsynonymous SNV	PIGO:NM_032634:exon2:c.C344G:p.P115R,PIGO:NM_152850:exon2:c.C344G:p.P115R,PIGO:NM_001201484:exon3:c.C344G:p.P115R	Hyperphosphatasia with mental retardation syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0818534053541	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746099877	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	6.572e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.011	0.76473	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	0.34	0.60485	T	-7.32	0.97087	D	0.858	0.85979	-0.2806	0.75524	T	0.416	0.76313	T	10	0.7343064	0.74513	D	0.081853	0.73772	D	0.476	0.76816	0.486	0.56939	0.86784043115	0.86655	0.8900067816836318	0.88970	0.661884173113	0.58947	0.481452643871	0.36258	T	0.368921	0.73372	T	0.332228	0.85315	D	0.239446	0.85123	D	0.995092988014221	0.86821	D	0.833317	0.50404	T	0.8353092	0.86275	0.8327926	0.90367	0.8353092	0.86276	0.8327926	0.90368	-12.458	0.87010	D	0.5988722436005867	0.66584	0.138	0.35077	B	.;.;.	.;.;.	4.251083	0.64526	24.7	0.99828309412097438	0.91026	0.99304	0.94225	D	AEFBCI	0.952847	0.96865	D	0.703589487355436	0.79869	7.169481	0.772123532141153	0.87796	9.34808	1.0	0.98316	0.643511	0.44296	0	0.685571	0.66316	0	0.685571	0.62057	0	0.631631	0.49550	0	.	.	5.93	5.93	0.95888	9.769000	0.98151	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	20.354	0.98826	115	0.95340	.;.;GPI ethanolamine phosphate transferase 3, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1510.33	37	chr9	35095222	.	G	C	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.721;DP=716;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.794;SOR=0.914	GT:AD:DP:GQ:PL	0/1:36,58:94:99:1524,0,913	18	0	1	0
chr9	35108139	35108139	C	T	exonic	FAM214B	.	nonsynonymous SNV	FAM214B:NM_001317991:exon3:c.G136A:p.G46R,FAM214B:NM_025182:exon3:c.G136A:p.G46R	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0025	0.00519169	0.0048	0.0011	0.0012	0.0024	0.0027	0.0037	0.0031	0.0203	0.0039456	610	154602	rs146693620	0.0049	0.0048	0.0047	0.0051	0.0141	0.0048	0.0048	0.0134	0.0131	0.0007	0.0011	0.0076	0.0009	0.0014	0.0031	0.0047	0.0053	0.0141	0.0031	0.0031	0.0030	0.0032	0.0166	0.0029	0.0028	0.0136	0.0126	0.0007	0	0.0010	0.0092	0.0027	0.0015	0	0.0041	0.0009	0.0166	0.502	0.07695	T	0.501	0.11153	T	0.002	0.09854	B	0.0	0.01387	B	0.000687	0.42383	N	0.164534	1	0.81001	D	1.265	0.31966	L	.	.	.	-0.04	0.07590	N	0.256	0.30118	-1.0248	0.22148	T	0.060	0.24981	T	9	0.0052247345	0.00114	T	.	.	.	0.161	0.41658	0.275	0.22687	0.0954503805726	0.09146	0.480183646659713	0.47938	0.268356325235	0.29355	0.544027090073	0.45014	T	0.00541	0.04862	T	-0.373788	0.03407	T	-0.298021	0.44933	T	0.0127203080802926	0.00215	T	0.737426	0.35417	T	0.040899627	0.05925	0.046489112	0.06491	0.040899627	0.05925	0.046489112	0.06491	-4.088	0.25113	T	.	.	0.182	0.39613	B	.;.;.;.;.;.	.;.;.;.;.;.	2.619987	0.34042	19.52	0.97989619282140672	0.37393	0.59574	0.30953	D	AEFDBI	0.125745	0.24238	N	-0.379321871649974	0.26207	1.428527	-0.205947526326525	0.31321	1.771526	0.999996658873397	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.72	3.83	0.43287	2.220000	0.42549	0.626000	0.20179	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.998000	0.85391	0.0:0.7337:0.0:0.2663	5.901	0.18210	167	0.93508	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.015152	0.02632	1065.33	43	chr9	35108139	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=765;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.756;SOR=0.56	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr9	35231126	35231126	T	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon3:c.T59A:p.F20Y,UNC13B:NM_001371186:exon3:c.T59A:p.F20Y,UNC13B:NM_001371189:exon3:c.T59A:p.F20Y,UNC13B:NM_006377:exon3:c.T59A:p.F20Y	.	437	1063	22	0	0	22	0.0102421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0003	0.00599042	0.0028	0.0004	0.0007	0	0	0.0003	0.0045	0.0182	0.002445	378	154602	rs200386049	0.0014	0.0014	0.0008	0.0020	0.0184	0.0013	0.0013	0.0176	0.0173	0.0002	0.0003	0	5.046e-05	0	0.0047	0.0003	0.0014	0.0184	0.0008	0.0008	0.0005	0.0010	0.0188	0.0006	0.0006	0.0157	0.0146	4.811e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0188	0.014	0.53172	D	0.046	0.49663	D	0.026	0.19406	B	0.037	0.23121	B	0.343065	0.13933	N	0.680432	0.995163	0.42571	D	2.425	0.70256	M	-0.37	0.68892	T	-0.47	0.19297	N	0.571	0.61002	-0.6102	0.64395	T	0.293	0.66479	T	10	0.009840339	0.00221	T	.	.	.	0.250	0.55888	.	.	0.663706574254	0.66088	0.4648180090317605	0.46400	0.691813054051	0.60620	0.907974481583	0.97275	D	0.066679	0.53553	T	-0.288453	0.09792	T	-0.172839	0.57184	T	0.049968445592362	0.05495	T	0.90021	0.67324	D	0.19837342	0.41737	0.11183741	0.26979	0.19837342	0.41737	0.11183741	0.26978	-8.127	0.61932	D	.	.	0.438	0.73872	A	.;.;.;.	.;.;.;.	4.342083	0.66620	25.0	0.98336877416457413	0.40398	0.97211	0.73346	D	AEI	0.761112	0.69893	D	0.123866449491003	0.47579	2.981561	0.260890632338725	0.53270	3.496866	0.43383708487938	0.20395	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.99	4.99	0.65942	6.221000	0.72188	7.681000	0.65292	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.720	0.62202	253	0.90069	.;C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.015152	0.02632	872.33	33	chr9	35231126	.	T	A	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.529;DP=706;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.02;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1130	18	0	1	0
chr9	35295783	35295783	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C614T:p.T205I,UNC13B:NM_001371186:exon8:c.C614T:p.T205I,UNC13B:NM_001371189:exon8:c.C614T:p.T205I,UNC13B:NM_006377:exon8:c.C614T:p.T205I	.	435	1045	42	0	0	42	0.0196998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0041	0.00499201	0.0065	0.0007	0.0041	0	0.0097	0.0065	0.0110	0.0136	0.0060025	928	154602	rs138440338	0.0057	0.0057	0.0054	0.0061	0.0142	0.0056	0.0056	0.0136	0.0133	0.0007	0.0029	0.0149	2.519e-05	0.0092	0.0118	0.0051	0.0056	0.0142	0.0047	0.0047	0.0043	0.0051	0.0160	0.0044	0.0043	0.0131	0.0121	0.0009	0.0099	0.0044	0.0144	0	0.0105	0.0068	0.0051	0.0071	0.0160	0.009	0.57480	D	0.011	0.64786	D	0.938	0.52538	P	0.399	0.44455	B	0.000231	0.47286	D	0.179734	0.99992	0.51308	D	2.375	0.68372	M	-2.07	0.85943	D	-2.95	0.61580	D	0.599	0.67304	0.241	0.86601	D	0.619	0.86572	D	10	0.0056838393	0.00126	T	.	.	.	0.186	0.46104	.	.	0.789644447498	0.78769	0.4848969622282283	0.48409	0.417416344241	0.42361	0.667133808136	0.62429	T	0.110725	0.81253	T	-0.222214	0.17692	T	-0.0802945	0.64882	T	0.0248213527270803	0.01249	T	0.987835	0.95872	D	0.13981785	0.32284	0.15281735	0.35937	0.13981785	0.32283	0.15281735	0.35936	-5.808	0.44644	T	.	.	0.401	0.63533	A	.;.;.;.	.;.;.;.	3.339012	0.46004	22.2	0.99894041270588596	0.96742	0.95990	0.67036	D	AEFBI	0.675017	0.64054	D	0.587530246142243	0.72397	5.799087	0.612553355911087	0.75850	6.384187	0.999992383774717	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.089000	0.57410	3.346000	0.37747	0.549000	0.26987	0.999000	0.42656	0.998000	0.33993	0.972000	0.54974	0.0:1.0:0.0:0.0	20.072	0.97725	167	0.93508	.;.;.;.	.	.	.	.	rs138440338	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.005435	0.011696	0.000000	0.008621	0.006098	0.022727	0.02632	1738.33	33	chr9	35295783	.	C	T	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=817;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.289;SOR=0.583	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1449	18	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.07895	6278.77	33	chr9	35295883	.	C	A	6278.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.726;DP=921;ExcessHet=0;FS=8.627;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=0.235;SOR=0.357	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1449	17	1	1	0
chr9	35303340	35303340	G	C	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.G3936C:p.M1312I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs375228538	0.0005	0.0002	0.0004	0.0007	0.0218	0.0005	0.0004	0.0176	0.0160	0.0006	0.0001	0	0	0	0.0039	0.0003	0.0008	0.0218	0.0007	0.0007	0.0005	0.0010	0.0178	0.0006	0.0006	0.0148	0.0137	2.406e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054219365	0.00119	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346065	0.07604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44475	B	.	.	-0.397582	0.02222	0.224	0.59169339315050773	0.06161	0.03261	0.08294	N	AEFGI	.	.	.	.	.	.	.	.	.	8.26615455917231E-4	0.07872	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0505976	0.09843	5.28	-2.36	0.06282	0.085000	0.14759	1.128000	0.24302	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3009:0.1227:0.3838:0.1926	1.862	0.02997	137	0.94565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	45.91	1	chr9	35303340	.	G	C	45.91	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	14
chr9	35307782	35307782	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.C8378T:p.S2793L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs370617443	0.0005	0.0003	0.0004	0.0007	0.0218	0.0005	0.0004	0.0176	0.0161	0.0006	0.0001	0	0	0	0.0039	0.0003	0.0008	0.0218	0.0007	0.0007	0.0005	0.0010	0.0178	0.0006	0.0006	0.0148	0.0137	2.406e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037794113	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49985	0.15613	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.12891	B	.	.	2.017277	0.25634	16.83	0.59652120053673952	0.06274	0.10120	0.15713	N	AEFI	.	.	.	.	.	.	.	.	.	0.0561144144787722	0.15043	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0528747	0.11480	6.17	4.26	0.49832	1.044000	0.29939	1.408000	0.26256	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.594000	0.31239	0.1341:0.6789:0.1162:0.0708	7.119	0.24611	137	0.94565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.27	.	chr9	35307782	.	C	T	42.27	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,30	7	1	0	11
chr9	35308215	35308215	C	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.C8811G:p.H2937Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029775765	2.426e-05	9.542e-06	4.925e-05	0	3.784e-05	9.71e-06	6.72e-06	1.559e-05	1.092e-05	0	0	0	0	0	0	3.784e-05	0	0	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058068335	0.06768	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.	.	-0.556730	0.01695	0.123	0.4747402879174758	0.03884	0.18563	0.20311	N	AEFI	.	.	.	.	.	.	.	.	.	0.00242262108974142	0.09418	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.046323	0.05263	5.97	0.431	0.15736	-1.179000	0.03200	-2.756000	0.03394	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6116:0.0:0.3884	10.501	0.43991	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	32.6	.	chr9	35308215	.	C	G	32.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.383;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.383;SOR=0.105	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	7	0	1	11
chr9	35351938	35351938	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.C412T:p.P138S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs981077042	1.204e-05	8.893e-06	1.403e-05	9.808e-06	0.0006	6.72e-06	5.18e-06	0.0003	0.0003	0.0006	0	0	0	0	0	0	0	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.735e-05	8.25e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27677843	0.45242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562444	0.19755	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30894	B	.	.	3.204439	0.43592	21.8	0.85187139378497789	0.15738	0.95309	0.64221	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999020287866431	0.38237	0.062308	0.01283	0	0.060609	0.00678	0	0.078618	0.02440	0	0.089874	0.02613	0	0.758833	0.45028	5.49	4.59	0.56297	3.046000	0.49536	4.088000	0.41786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.8688:0.1312:0.0	16.446	0.83773	130	0.94779	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	41.48	.	chr9	35351938	.	C	T	41.48	.	AC=2;AF=0.143;AN=14;DP=13;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;QD=20.74;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	6	1	0	12
chr9	35353502	35353502	G	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.G1976T:p.G659V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994843	0.42439	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22921902	0.39845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564244	0.19889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28406	B	.	.	2.407418	0.30938	18.59	0.78354637818273776	0.12265	0.82666	0.41862	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999149095949448	0.38563	0.062308	0.01283	0	0.063388	0.01293	0	0.063197	0.01477	0	0.089874	0.02613	0	0.273315	0.33811	5.02	3.17	0.35510	2.866000	0.48119	4.538000	0.43752	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0806:0.2734:0.5051:0.1409	4.934	0.13283	128	0.94857	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	82.27	.	chr9	35353502	.	G	T	82.27	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=27.42;SOR=1.179	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	1	0	13
chr9	35399710	35399710	T	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon26:c.T2960A:p.L987H,UNC13B:NM_001371187:exon28:c.T5210A:p.L1737H,UNC13B:NM_001330653:exon35:c.T4070A:p.L1357H,UNC13B:NM_001371186:exon35:c.T4067A:p.L1356H,UNC13B:NM_006377:exon35:c.T4070A:p.L1357H,UNC13B:NM_001371189:exon36:c.T12317A:p.L4106H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0778137870111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.003	0.79402	D	0.994	0.66517	D	0.962	0.70672	D	0.000015	0.62929	D	0.116084	0.999993	0.58761	D	1.59	0.40313	L	-0.9	0.74896	T	-4.25	0.76094	D	0.844	0.83987	0.048	0.83205	D	0.506	0.81372	D	10	0.8652476	0.85765	D	0.077814	0.72858	D	0.685	0.88490	0.644	0.78117	0.901731029544	0.90075	0.3884417862430836	0.38759	0.897036786801	0.70495	0.756010591984	0.75337	T	0.043023	0.68009	T	0.0926431	0.63484	D	-0.104701	0.63030	T	0.966887295246124	0.67728	D	0.950905	0.81262	D	0.444049	0.63662	0.57395875	0.75321	0.444049	0.63663	0.57395875	0.75322	-10.481	0.76738	D	.	.	0.333	0.55452	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.570935	0.72120	25.8	0.98195647513577289	0.39071	0.99846	0.99811	D	AEFDBI	0.923298	0.89956	D	0.715986808179274	0.80680	7.348353	0.731190404185249	0.84746	8.378835	0.99999999155551	0.74766	0.706548	0.73137	0	0.486142	0.07564	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.931000	0.87079	7.957000	0.75973	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.861	0.78806	141	0.94388	.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1630.33	37	chr9	35399710	.	T	A	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.306;DP=813;ExcessHet=0;FS=2.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.81;SOR=0.487	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1644,0,2026	18	0	1	0
chr9	35403557	35403557	A	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon29:c.A3338G:p.K1113R,UNC13B:NM_001371187:exon32:c.A5645G:p.K1882R,UNC13B:NM_001371186:exon38:c.A4445G:p.K1482R,UNC13B:NM_006377:exon38:c.A4448G:p.K1483R,UNC13B:NM_001330653:exon39:c.A4505G:p.K1502R,UNC13B:NM_001371189:exon39:c.A12695G:p.K4232R	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	.	0.0003	0.00499201	0.0022	0.0004	0.0006	0	0	0.0003	0.0033	0.0145	0.0020116	311	154602	rs201643678	0.0012	0.0012	0.0007	0.0017	0.0154	0.0011	0.0011	0.0147	0.0145	0.0001	0.0002	0	5.042e-05	0	0.0030	0.0002	0.0011	0.0154	0.0006	0.0006	0.0004	0.0009	0.0156	0.0005	0.0005	0.0127	0.0117	2.418e-05	0	0.0001	0	0	0	0	0.0003	0.0010	0.0156	0.047	0.40832	D	0.033	0.54159	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	-1.11	0.77466	T	-2.66	0.57275	D	0.617	0.77695	0.410	0.89248	D	0.652	0.87889	D	10	0.010234177	0.00229	T	.	.	.	0.702	0.89284	.	.	0.843920261538	0.84243	0.503459283857183	0.50267	0.26241307256	0.28800	0.667311906815	0.62455	T	0.352304	0.90870	T	-0.137454	0.30297	T	0.0421037	0.73065	D	0.0556795648795649	0.06471	T	0.975302	0.91244	D	0.49261054	0.66658	0.41928658	0.65927	0.49261054	0.66659	0.41928658	0.65927	-8.477	0.64575	D	.	.	0.185	0.45871	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.499159	0.70358	25.5	0.99900595394971725	0.97275	0.99472	0.96450	D	AEFDBI	0.903364	0.85236	D	0.892820690064518	0.91404	10.86633	0.860101151360956	0.93591	12.14618	0.999999999820964	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.224000	0.94368	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.858	0.78780	142	0.94345	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	1428.33	35	chr9	35403557	.	A	G	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.676;DP=759;ExcessHet=0;FS=10.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.989;SOR=1.338	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	18	0	1	0
chr9	35609467	35609467	C	T	exonic	TESK1	.	nonsynonymous SNV	TESK1:NM_001318230:exon9:c.C1126T:p.R376W,TESK1:NM_006285:exon10:c.C1606T:p.R536W	.	405	1102	15	0	0	15	0.0067598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0590992691313	0.0005	0.00119808	0.0017	0.0001	0.0003	0	0	0.0008	0.0048	0.0096	0.0015459	239	154602	rs142237307	0.0014	0.0014	0.0011	0.0017	0.0093	0.0014	0.0013	0.0087	0.0085	0.0002	0.0003	3.925e-05	2.526e-05	0.0001	0.0035	0.0010	0.0013	0.0093	0.0009	0.0009	0.0008	0.0009	0.0087	0.0007	0.0007	0.0066	0.0059	0.0002	0	0.0004	0	0	9.409e-05	0.0068	0.0010	0.0024	0.0087	0.021	0.49117	D	0.049	0.48336	D	0.998	0.73220	D	0.672	0.53180	P	0.000849	0.41440	D	0.000000	0.899847	0.27722	N	0.55	0.14455	N	-1.01	0.76168	T	-1.24	0.31375	N	0.413	0.50146	-0.6461	0.62883	T	0.287	0.65928	T	10	0.0065475404	0.00148	T	0.059099	0.67549	D	0.368	0.68757	.	.	0.401767401478	0.39795	0.28985926085404706	0.28898	0.341483176748	0.36081	0.686551809311	0.65210	T	0.054849	0.29839	T	-0.285391	0.10104	T	-0.175756	0.56915	T	0.0295003317975454	0.01913	T	0.889511	0.62170	D	0.074388996	0.16690	0.061992697	0.12058	0.074388996	0.16690	0.061992697	0.12058	-4.705	0.33465	T	.	.	0.108	0.26482	B	.;.	.;.	3.759876	0.53945	23.4	0.99731167070129467	0.82761	0.37865	0.25858	N	AEFDBI	0.196444	0.32342	N	-0.111901396523476	0.36875	2.137384	-0.104612474088652	0.35204	2.033942	0.999943329219494	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	0.34	0.15224	-0.074000	0.11410	2.323000	0.32147	0.589000	0.31548	0.290000	0.25233	1.000000	0.68203	0.998000	0.85391	0.4871:0.4247:0.0:0.0881	7.764	0.28133	234	0.90879	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.011364	0.05263	2585.83	34	chr9	35609467	.	C	T	2585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=779;ExcessHet=0.119;FS=2.761;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.551;SOR=0.939	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	17	0	2	0
chr9	35616087	35616087	C	T	exonic	CD72	.	nonsynonymous SNV	CD72:NM_001782:exon5:c.G544A:p.E182K	.	.	.	.	.	.	.	.	.	.	.	2760883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00642411812595	7.7e-05	.	0.0002	0.0003	8.637e-05	0	0	0.0002	0	0	0.0001488	23	154602	rs372589518	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	2.236e-05	0.0001	0	0	0.0003	0.0003	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.24e-05	0.0001	7.893e-05	0.0001	0.0055	6.545e-05	0	0	0	0	0.0002	0.0005	0	0.409	0.10180	T	0.739	0.07617	T	0.039	0.21116	B	0.009	0.14300	B	0.090940	0.02454	N	1.957170	1	0.08975	N	1.1	0.28011	L	1.0	0.41392	T	-0.78	0.21644	N	0.075	0.04913	-1.0660	0.10316	T	0.063	0.26029	T	10	0.012734413	0.00272	T	0.006424	0.16899	T	0.042	0.11227	.	.	0.377493895363	0.37364	0.15536515509090493	0.15457	0.253657355234	0.27937	0.213398188353	0.00964	T	0.089802	0.38449	T	-0.543904	0.00317	T	-0.72557	0.04531	T	0.0111159104853868	0.00162	T	0.710429	0.32156	T	0.03970712	0.05534	0.04000344	0.04223	0.03970712	0.05533	0.04000344	0.04223	-5.543	0.42269	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	-0.197617	0.03103	0.491	0.77895295144036558	0.12068	0.00572	0.02591	N	AEFDBI	0.060244	0.11435	N	-1.59020268392474	0.01314	0.0572282	-1.70284184328323	0.01125	0.05057276	0.999999999897779	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.619478	0.44681	0	0.663205	0.64265	0	.	.	5.14	-9.81	0.00405	-1.255000	0.02981	-0.459000	0.09050	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.1235:0.6498:0.2268	13.287	0.59681	253	0.90069	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	38	chr9	35616087	.	C	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=801;ExcessHet=0;FS=3.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.869;SOR=0.975	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr9	35649919	35649919	C	A	exonic	SIT1	.	nonsynonymous SNV	SIT1:NM_014450:exon5:c.G520T:p.A174S	.	362	1155	5	0	0	5	0.00215983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00319489	0.0113	0.0025	0.0046	0	0.0549	0.0202	0.0127	0.0008	0.0048835	755	154602	rs138786883	0.0078	0.0078	0.0080	0.0076	0.0087	0.0077	0.0076	0.0085	0.0085	0.0009	0.0023	0.0053	2.582e-05	0.0188	0.0017	0.0087	0.0062	0.0006	0.0064	0.0064	0.0060	0.0069	0.0092	0.0061	0.0060	0.0087	0.0084	0.0010	0	0.0052	0.0046	0	0.0187	0.0034	0.0092	0.0057	0.0010	0.267	0.16198	T	0.363	0.16815	T	0.035	0.20614	B	0.015	0.17295	B	0.093225	0.20234	N	0.414784	0.80639	0.29054	N	0.55	0.14455	N	.	.	.	-1.23	0.31170	N	0.166	0.22998	-1.0706	0.09282	T	0.045	0.19397	T	9	0.0040133595	0.00078	T	.	.	.	0.016	0.02506	.	.	0.215869574891	0.21205	0.29357428659224816	0.29270	0.202293061456	0.22652	0.492101103067	0.37730	T	0.214163	0.57568	T	-0.422897	0.01640	T	-0.370844	0.36791	T	0.0343013272579602	0.02689	T	0.659534	0.26859	T	0.14101668	0.32510	0.12864642	0.30948	0.14101668	0.32510	0.12864642	0.30947	-2.974	0.09903	T	.	.	0.081	0.10304	B	.;.	.;.	1.796305	0.22833	15.78	0.93415614228595933	0.23180	0.30945	0.24212	N	AEFDBHCI	0.088458	0.17932	N	-0.452616629756348	0.23651	1.271589	-0.332515517491516	0.27055	1.498634	0.999999017874417	0.74766	0.205752	0.04085	2	0.52208	0.09955	0	0.459711	0.06710	0	0.542086	0.14980	0	.	.	5.15	1.28	0.20656	0.145000	0.15978	0.973000	0.23072	0.594000	0.32500	0.820000	0.29989	0.391000	0.24664	0.989000	0.64315	0.4443:0.4205:0.0:0.1352	4.285	0.10299	274	0.89249	.;.	.	.	.	.	rs138786883	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005584	0.010417	0.001366	0.002941	0.000000	0.034483	0.006211	0.007576	0.02632	1025.33	35	chr9	35649919	.	C	A	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=715;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.214;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	18	0	1	0
chr9	35704461	35704461	C	T	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon45:c.G5918A:p.R1973H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.016461482313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.13	0.19588	T	-3.75	0.71157	D	0.462	0.49874	-0.9621	0.38781	T	0.129	0.43787	T	10	0.5807212	0.65833	D	0.016461	0.37727	T	0.293	0.61272	0.8	0.91946	0.683924871329	0.68122	0.5709760217921663	0.57025	1.59054647758	0.88522	0.842984378338	0.88548	D	0.535844	0.84019	D	-0.0575709	0.43286	T	-0.320473	0.42524	T	0.995264291763306	0.87117	D	0.976002	0.91601	D	0.3648312	0.58200	0.2419462	0.49604	0.3648312	0.58201	0.2419462	0.49603	-10.976	0.79527	D	.	.	0.282	0.51515	B	.	.	5.347842	0.89711	31	0.99951421983649669	0.99944	0.92771	0.56505	D	AEFDGBCI	0.465613	0.51361	N	0.666019841221266	0.77410	6.669149	0.624562343371027	0.76728	6.54485	0.999999993994882	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	3.430000	0.52575	4.946000	0.46247	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9191:0.0:0.0809	11.752	0.51125	111	0.95468	Vinculin-binding site-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1201.33	47	chr9	35704461	.	C	T	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=1.53;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1381	18	0	1	0
chr9	35713244	35713244	T	C	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon26:c.A3304G:p.I1102V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00604836745635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.907e-07	2.052e-06	1.368e-06	0	2.246e-05	0	0	.	.	0	2.246e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.18691	T	0.224	0.25591	T	0.001	0.07471	B	0.005	0.11217	B	0.000008	0.62929	D	0.147474	1	0.81001	D	1.445	0.36358	L	2.61	0.13095	T	-0.21	0.10308	N	0.265	0.30004	-1.0755	0.08246	T	0.027	0.11751	T	10	0.13823989	0.26293	T	0.006048	0.15816	T	0.112	0.31546	0.339	0.32979	0.288221626996	0.28429	0.12830227685050824	0.12755	0.432362513328	0.43413	0.56177765131	0.47519	T	0.374697	0.73845	T	-0.160341	0.26706	T	-0.468095	0.25720	T	0.751996755599976	0.43396	D	0.904909	0.66542	D	0.10127683	0.23923	0.077373	0.17230	0.10127683	0.23922	0.077373	0.17229	-2.503	0.05801	T	.	.	0.088	0.11797	B	.	.	2.744005	0.35953	20.1	0.99592834280704023	0.73690	0.98701	0.85758	D	AEFDBI	0.811830	0.73471	D	-0.115897516205759	0.36701	2.124916	0.120296253728527	0.45588	2.819321	0.999999999989559	0.74766	0.744818	0.98587	0	0.698795	0.70079	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.187000	0.71962	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.365	0.83146	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4175.81	44	chr9	35713244	.	T	C	4175.81	.	AC=2;AF=0.053;AN=38;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.41;SOR=1.282	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chr9	35733405	35733405	A	G	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.A355G:p.R119G	.	431	1053	36	2	0	40	0.0186393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0038	0.00439297	0.0065	0.0010	0.0034	0.0001	0.0132	0.0069	0.0088	0.0111	0.0063389	980	154602	rs11538707	0.0056	0.0056	0.0054	0.0058	0.0116	0.0055	0.0054	0.0103	0.0100	0.0007	0.0027	0.0061	7.557e-05	0.0134	0.0116	0.0052	0.0050	0.0108	0.0041	0.0041	0.0037	0.0046	0.0116	0.0038	0.0037	0.0092	0.0083	0.0009	0	0.0031	0.0035	0	0.0120	0.0068	0.0050	0.0024	0.0116	0.006	0.61437	D	0.168	0.30631	T	.	.	.	.	.	.	0.035232	0.01799	N	1.977850	1	0.08975	N	.	.	.	-1.01	0.76168	T	-2.14	0.48523	N	0.266	0.30118	-0.8323	0.53152	T	0.257	0.62766	T	10	0.007941008	0.00180	T	.	.	.	0.129	0.35316	.	.	0.48447252604	0.48079	0.10674431455268113	0.10604	0.169132673809	0.19067	0.278317034245	0.07259	T	.	.	.	-0.494845	0.00611	T	-0.474192	0.25065	T	0.0265326855937384	0.01479	T	0.545645	0.18668	T	0.18463843	0.39789	0.27675217	0.53622	0.18463843	0.39788	0.27675217	0.53621	-2.862	0.08769	T	.	.	0.100	0.17232	B	.	.	0.877539	0.12505	9.037	0.89253841185197447	0.18639	0.04782	0.10496	N	ALL	0.126382	0.24329	N	-0.941354268813209	0.09888	0.4700162	-1.01968557970873	0.09353	0.4648129	0.999999997267324	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	-1.43	0.08418	0.052000	0.14046	1.933000	0.29783	0.691000	0.84096	0.000000	0.06391	0.293000	0.24176	0.017000	0.10941	0.3462:0.2055:0.4483:0.0	6.497	0.21345	107	0.95615	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.05263	5172.81	168	chr9	35733405	.	A	G	5172.81	.	AC=2;AF=0.053;AN=38;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.79;SOR=1.145	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	1	0	0
chr9	35752127	35752127	G	A	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon8:c.G934A:p.G312S	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	.	0.0002	0.01877	0.0086	0.0003	0.0004	0.0903	0.0093	0.0010	0.0156	0.0032	0.007322	1132	154602	rs117436169	0.0034	0.0034	0.0034	0.0034	0.0846	0.0033	0.0033	0.0822	0.0812	0.0002	0.0003	0	0.0846	0.0102	0.0005	0.0004	0.0053	0.0030	0.0041	0.0041	0.0031	0.0050	0.0768	0.0038	0.0037	0.0706	0.0682	0.0005	0	0.0009	0	0.0768	0.0088	0	0.0008	0.0043	0.0066	0.168	0.23007	T	0.528	0.10173	T	0.256	0.31372	B	0.262	0.39564	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	.	.	.	0.28	0.04233	N	0.817	0.81261	-1.0783	0.07681	T	0.009	0.03359	T	9	0.008027047	0.00182	T	.	.	.	0.236	0.53931	.	.	0.223847106136	0.22009	0.5677121351429831	0.56699	0.235098826708	0.26036	0.756472826004	0.75405	T	0.006811	0.06237	T	-0.0607059	0.42797	T	0.203403	0.83313	D	0.0214643458364821	0.00850	T	0.891311	0.62583	D	0.20490862	0.42616	0.25338176	0.50985	0.20490862	0.42616	0.25338176	0.50984	-6.327	0.48936	T	.	.	0.103	0.18497	B	.	.	3.455889	0.48149	22.6	0.98518281409734576	0.42434	0.99418	0.95776	D	AEFDBI	0.931516	0.92045	D	0.0355887456048824	0.43481	2.640117	0.271499661492494	0.53881	3.555123	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.95	5.95	0.96415	8.868000	0.91959	10.018000	0.83123	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.36	0.94422	98	0.95963	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2312.33	36	chr9	35752127	.	G	A	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.828;SOR=0.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1390	18	0	1	0
chr9	35809964	35809964	C	T	exonic	SPAG8	.	nonsynonymous SNV	SPAG8:NM_001039592:exon7:c.G1432A:p.G478R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00366597953016	.	0.000599042	4.474e-05	0	0.0003	0	0	1.553e-05	0	0	7.76e-05	12	154602	rs182433601	6.96e-05	6.84e-05	7.875e-05	6.031e-05	0.0005	5.812e-05	5.418e-05	0.0003	0.0003	6.098e-05	0.0005	0	0	0	0	6.269e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0016	0.0001	0.0001	0.0011	0.0009	0	0	0.0016	0	0	0	0	4.41e-05	0.0009	0	0.898	0.02436	T	0.206	0.27056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	-0.67	0.21429	N	0.224	0.25989	-0.9807	0.34840	T	0.021	0.08778	T	9	0.008013219	0.00182	T	0.003666	0.08433	T	0.061	0.17616	0.299	0.26522	0.0954503805726	0.09146	.	.	.	.	.	.	.	.	.	.	-0.46949	0.00856	T	-0.596011	0.13148	T	0.0438644103705883	0.04395	T	0.332367	0.07003	T	0.049286924	0.08727	0.053730432	0.09108	0.049286924	0.08727	0.053730432	0.09107	-4.078	0.24965	T	.	.	0.118	0.28721	B	.;.	.;.	0.456877	0.08265	5.011	0.63100990775485244	0.07135	0.01110	0.04061	N	AEFBI	0.078646	0.15873	N	-1.23225749376969	0.04539	0.2050572	-1.2743339723132	0.04780	0.2263057	0.942372352243601	0.27519	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.48	-3.67	0.04187	-0.007000	0.12747	-0.872000	0.07099	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.311000	0.24761	0.2744:0.2705:0.2277:0.2274	0.288	0.00236	124	0.95048	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2294.81	33	chr9	35809964	.	C	T	2294.81	.	AC=2;AF=0.053;AN=38;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.26;SOR=1.576	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1375	18	1	0	0
chr9	35819232	35819232	T	G	exonic	FAM221B	.	nonsynonymous SNV	FAM221B:NM_001012446:exon5:c.A1016C:p.H339P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.110905011294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.664149	0.81001	D	2.99	0.85699	M	1.41	0.33412	T	-8.8	0.97786	D	0.885	0.88356	-0.3802	0.72645	T	0.210	0.56973	T	9	0.759416	0.76231	D	0.110905	0.78848	D	0.397	0.71163	0.362	0.36711	0.384584525793	0.38071	0.7907988447644441	0.79031	0.479879289657	0.47010	0.493766963482	0.37961	T	0.152634	0.49312	T	0.164229	0.70593	D	-0.00187266	0.70215	D	0.996532559394836	0.89544	D	0.676232	0.28483	T	0.6081317	0.73128	0.5665295	0.74909	0.6081317	0.73129	0.5665295	0.74909	-10.979	0.79543	D	.	.	0.935	0.85458	P	.	.	4.663908	0.74467	26.2	0.97337802375550642	0.33457	0.96611	0.70011	D	AEFI	0.677687	0.64230	D	0.570857455784074	0.71360	5.639171	0.453974695551327	0.64971	4.765269	0.999956988797985	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	3.309000	0.51613	7.886000	0.72778	0.661000	0.55757	0.997000	0.40164	1.000000	0.68203	0.573000	0.30723	0.0:0.0:0.0:1.0	11.329	0.48702	147	0.94143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1043.33	35	chr9	35819232	.	T	G	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=716;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=1.26;SOR=1.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1348	18	0	1	0
chr9	35853601	35853601	G	A	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001042590:exon13:c.G2536A:p.V846I,TMEM8B:NM_001042589:exon14:c.G1180A:p.V394I	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0107755459244	0.0013	0.000399361	0.0003	0.0021	0.0003	0	0	0.0002	0	6.057e-05	0.0002911	45	154602	rs200757405	0.0002	0.0002	0.0003	0.0002	0.0020	0.0002	0.0002	0.0016	0.0015	0.0020	0.0004	0	0	0	0.0005	0.0002	0.0006	8.115e-05	0.0008	0.0008	0.0010	0.0007	0.0020	0.0007	0.0007	0.0016	0.0015	0.0020	0	0.0008	0.0003	0	0	0.0102	0.0004	0.0019	0	0.917	0.02327	T	0.52	0.10465	T	0.031	0.20130	B	0.02	0.19048	B	.	.	.	.	0.853839	0.28457	N	.	.	.	1.08	0.39401	T	0.29	0.04161	N	0.099	0.08227	-0.9488	0.41177	T	0.054	0.22883	T	9	0.008127749	0.00184	T	0.010776	0.27705	T	0.068	0.19811	.	.	0.0762999501168	0.06990	0.5743972149680238	0.57368	0.421377757999	0.42644	0.276763916016	0.07045	T	0.013053	0.11362	T	-0.604619	0.00137	T	-0.646818	0.09178	T	0.001009995530899	0.00010	T	0.588541	0.22456	T	0.03156222	0.03017	0.06090433	0.11674	0.03156222	0.03017	0.06090433	0.11674	-5.524	0.42092	T	.	.	0.052	0.00239	B	.;.;.;.	.;.;.;.	0.005282	0.04317	1.093	0.58969438419633557	0.06115	0.34950	0.25188	N	AEFBI	0.095931	0.19375	N	-1.11510488730348	0.06373	0.2932291	-1.07649701801251	0.08164	0.4002392	0.277095639101474	0.18951	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.28	-4.06	0.03718	0.611000	0.23965	-0.266000	0.10387	-0.105000	0.15698	0.270000	0.25046	0.000000	0.08366	0.091000	0.17840	0.1039:0.0:0.8961:0.0	17.601	0.87924	169	0.93437	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2857.33	39	chr9	35853601	.	G	A	2857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=871;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.653;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1324.8	51	chr9	35906578	.	T	TCACCACCTCCAC	1324.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=1.05;SOR=0.746	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	17	0	2	0
chr9	35906586	35906586	-	CCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA:p.H107_R108insHHPRHTPHHLHHHHHHHHHPH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.664e-05	9.33e-05	6.002e-05	0.0001	0.0004	7.273e-05	6.682e-05	0.0003	0.0003	7.674e-05	5.424e-05	0	0	0.0001	0	6.055e-05	0.0001	0.0004	3.402e-05	5.966e-05	0	7.264e-05	0.0004	5.64e-06	2.11e-06	.	.	0	0	0	0	0	0	0	3.457e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5546.49	51	chr9	35906586	.	T	TCCACCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA	5546.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.915;DP=857;ExcessHet=1.1637;FS=1.684;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.23;SOR=0.827	GT:AD:DP:GQ:PL	0/0:16,0:31:99:549,597,1209	17	0	1	1
chr9	35906586	35906586	-	CCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H105_P106insHPHHTPHHLHHHHHHH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	1.062e-05	3.531e-06	3.542e-06	4.657e-06	8.3e-07	5.6e-07	1.09e-06	7.4e-07	0	0	0	0	0	0	4.657e-06	0	0	0	1.195e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5546.49	51	chr9	35906586	.	T	TCCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	5546.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.915;DP=857;ExcessHet=1.1637;FS=1.684;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.23;SOR=0.827	GT:AD:DP:GQ:PL	0/0:16,0:31:99:549,597,1209	17	0	1	1
chr9	35906598	35906598	A	T	exonic	HRCT1	.	nonsynonymous SNV	HRCT1:NM_001039792:exon1:c.A311T:p.H104L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00286382300621	.	.	0.0055	0.0009	0.0013	0.0004	0	0.0079	0.0076	0.0044	0.0020181	312	154602	rs58509439	0.0011	0.0014	0.0011	0.0011	0.0012	0.0010	0.0010	0.0011	0.0011	0.0001	0.0005	0.0009	0.0001	7.878e-05	0.0012	0.0012	0.0009	0.0010	0.0006	0.0009	0.0007	0.0006	0.0018	0.0005	0.0004	0.0007	0.0006	0.0003	0	0.0005	0	0	0	0	0.0010	0	0.0018	0.0	0.91255	D	0.001	0.83351	D	0.964	0.55854	D	0.608	0.51027	P	0.170857	0.17379	N	0.419028	1	0.08975	N	1.15	0.29295	L	.	.	.	-3.62	0.69593	D	0.305	0.34444	-1.0799	0.07368	T	0.056	0.23450	T	9	0.0047576427	0.00100	T	0.002864	0.06015	T	0.027	0.05988	.	.	0.210429274316	0.20668	0.336616425985248	0.33574	0.0268113151783	0.02741	0.420744180679	0.27939	T	0.023757	0.18078	T	-0.0996495	0.36481	T	-0.380916	0.35614	T	0.761682987213135	0.43948	D	0.19948	0.02241	T	0.3889613	0.59958	0.28785896	0.54799	0.3889613	0.59958	0.28785896	0.54798	-5.517	0.42027	T	.	.	0.142	0.31279	B	.	.	1.416878	0.18331	13.68	0.91816263336333315	0.21124	0.17005	0.19646	N	AEFDGBCI	0.045175	0.07357	N	-0.336870608573258	0.27757	1.525504	-0.47314737743647	0.22897	1.245933	0.999999830495576	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.375	0.06713	1	.	.	3.0	1.79	0.23992	0.975000	0.29046	-0.503000	0.08791	0.731000	0.85647	0.433000	0.26432	0.000000	0.08366	0.198000	0.21837	0.8574:0.0:0.1426:0.0	5.204	0.14606	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	962.38	40	chr9	35906598	.	A	T	962.38	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.672;DP=710;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1878;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.48;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:30:99:.:.:506,553,1153:.	16	0	1	2
chr9	35906599	35906604	CCACCC	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.312_317del:p.P106_H107del	.	851	653	3	0	15	18	0.00229183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0	0.0004	0	0.0034	0.0045	0	0.0010	0.0014295	221	154602	rs764113748	8.68e-05	0.0001	6.829e-05	0.0001	0.0001	7.286e-05	6.694e-05	8.473e-05	7.801e-05	0	0	0	0	3.939e-05	0	0.0001	8.544e-05	4.353e-05	3.016e-05	2.26e-05	5.686e-05	0	6.225e-05	5e-06	1.87e-06	1.031e-05	3.86e-06	0	0	0	0	0	0	0	6.225e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	962.38	40	chr9	35906598	.	ACCACCC	A	962.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.672;DP=710;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1878;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.48;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:30:99:.:.:506,553,1153:.	15	0	2	2
chr9	35906603	35906603	C	0	exonic	HRCT1	.	.	.	.	865	603	28	6	20	60	0.0321027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	66.24	43	chr9	35906603	.	C	*	66.24	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.057;DP=690;ExcessHet=0.7564;FS=1.192;InbreedingCoeff=-0.1203;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.58;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	17	0	2	0
chr9	35906604	35906604	C	0	exonic	HRCT1	.	.	.	.	919	482	25	5	91	126	0.035035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1788.73	15	chr9	35906604	.	C	*	1788.73	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.516;DP=676;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0853;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.568;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	14	0	2	3
chr9	35906604	35906604	-	CCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H109_H110insPHHTPHHLHHHHHHHHRH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0018	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0006	0.0006	0.0002	0	0.0003	0.0003	0.0018	0.0014	0.0004	0.0009	0.0018	0.0007	0.0011	0.0015	0.0007	0.0007	0.0012	0.0011	5.76e-05	0	0.0007	0.0004	0	0	0.0056	0.0015	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1788.73	15	chr9	35906604	.	C	CCCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	1788.73	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.516;DP=676;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0853;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.568;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	15	0	1	3
chr9	35906608	35906610	CCG	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.321_323del:p.R108del	.	878	634	4	4	2	14	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0	0.0005	0.0005	0.0014	0.0040	0	0.0063	1.29e-05	2	154602	rs774393162	0.0019	0.0075	0.0017	0.0020	0.0044	0.0018	0.0018	0.0034	0.0032	0.0005	0.0006	0.0033	0.0001	0.0010	0.0044	0.0019	0.0012	0.0038	0.0018	0.0064	0.0015	0.0021	0.0138	0.0014	0.0013	0.0083	0.0067	0.0001	0.0040	0.0032	0.0023	0	0.0017	0	0.0017	0	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	50.68	52	chr9	35906607	.	ACCG	A	50.68	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.31;DP=622;ExcessHet=0;FS=2.013;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-1.625;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	17	0	1	1
chr9	36085320	36085320	A	C	exonic	RECK	.	nonsynonymous SNV	RECK:NM_001316346:exon9:c.A692C:p.H231P	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs867033774	0.0067	0.0003	0.0076	0.0061	0.0358	0.0054	0.0050	0.0285	0.0259	0.0054	0	0	0	0	0.0358	0.0005	0.0062	0.0016	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0003	0.0003	0	0	0.0204	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	173.33	32	chr9	36085320	.	A	C	173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=619;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=0.378;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1032:.	18	0	1	0
chr9	36170955	36170955	C	T	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.C1453T:p.R485W	.	429	1065	26	2	0	30	0.0138889	.	.	.	723568	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.234	.	0.0028	0.00339457	0.0039	0.0010	0.0016	0	0.0003	0.0041	0.0022	0.0103	0.0036675	567	154602	rs45579743	0.0030	0.0030	0.0026	0.0034	0.0123	0.0029	0.0029	0.0100	0.0094	0.0005	0.0020	0.0025	2.519e-05	0.0004	0.0123	0.0027	0.0033	0.0102	0.0026	0.0026	0.0025	0.0027	0.0108	0.0024	0.0023	0.0084	0.0076	0.0005	0.0011	0.0021	0.0020	0	0.0005	0.0204	0.0039	0.0047	0.0108	0.018	0.50676	D	0.008	0.67890	D	0.997	0.70673	D	0.803	0.58300	P	0.019397	0.27268	N	0.250989	0.822592	0.34798	D	0.695	0.17993	N	-0.22	0.66474	T	-1.39	0.34397	N	0.469	0.50508	-0.4601	0.70064	T	0.194	0.54739	T	10	0.009788275	0.00220	T	.	.	.	0.234	0.53644	.	.	0.887054808707	0.88594	0.5493395921399673	0.54859	0.284355723822	0.30857	0.562994599342	0.47690	T	0.017126	0.14025	T	-0.255837	0.13391	T	-0.133019	0.60717	T	0.0133827016378874	0.00242	T	0.865313	0.56401	D	0.09879193	0.23306	0.09811843	0.23381	0.09879193	0.23305	0.09811843	0.23380	-5.792	0.44505	T	.	.	0.137	0.29914	B	.	.	3.950235	0.57866	23.9	0.99605018677850188	0.74456	0.66136	0.32974	D	AEFGBI	0.424853	0.48986	N	0.346244639007824	0.58541	4.027002	0.376868477382267	0.60142	4.198609	0.999991011201116	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.82	3.81	0.43020	2.308000	0.43350	0.847000	0.22099	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.4256:0.5744:0.0:0.0	10.502	0.43996	427	0.81056	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.014946	0.000000	0.000000	0.025862	0.003049	0.011364	0.02632	3093.33	48	chr9	36170955	.	C	T	3093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=877;ExcessHet=0;FS=1.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.759;SOR=0.821	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	36217426	36217426	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon10:c.A1778G:p.D593G,GNE:NM_001190383:exon11:c.A1886G:p.D629G,GNE:NM_001190388:exon11:c.A1931G:p.D644G,GNE:NM_001374797:exon11:c.A1955G:p.D652G,GNE:NM_001374798:exon11:c.A1931G:p.D644G,GNE:NM_001128227:exon12:c.A2201G:p.D734G,GNE:NM_005476:exon12:c.A2108G:p.D703G	Nonaka myopathy, Autosomal recessive;Sialuria, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.795000559655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.65728	D	0.682	0.47975	P	0.202	0.46460	B	0.000000	0.84330	D	0.089477	1	0.81001	D	1.59	0.40313	L	-4.94	0.99694	D	-1.05	0.37566	N	0.324	0.36674	1.074	0.98710	D	0.972	0.99132	D	10	0.79060614	0.78627	D	0.795001	0.98393	D	0.715	0.89877	0.672	0.81002	0.989804873231	0.98969	0.9140961493075387	0.91384	1.14632707793	0.79085	0.396394729614	0.24567	T	0.846887	0.96479	D	0.234855	0.77176	D	0.0995763	0.76879	D	0.847838606738069	0.49980	D	0.968903	0.88767	D	0.8738637	0.89170	0.56811047	0.74997	0.8738637	0.89171	0.56811047	0.74997	-7.935	0.61350	D	0.11223124384236334	0.09687	0.772	0.75997	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.384087	0.67603	25.1	0.99665961886020704	0.78266	0.98675	0.85440	D	AEFDGBIJ	0.927908	0.91129	D	0.453308551935474	0.64391	4.692547	0.534487875788925	0.70325	5.488713	0.999999999957322	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	7.626000	0.82344	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.856	0.63027	422	0.81333	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3151.33	33	chr9	36217426	.	T	C	3151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=873;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.105;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr9	36599459	36599459	A	G	exonic	MELK	.	nonsynonymous SNV	MELK:NM_001256692:exon4:c.A147G:p.I49M,MELK:NM_001256688:exon5:c.A327G:p.I109M,MELK:NM_001256690:exon5:c.A327G:p.I109M,MELK:NM_001256691:exon5:c.A300G:p.I100M,MELK:NM_001256687:exon6:c.A396G:p.I132M,MELK:NM_001256689:exon6:c.A444G:p.I148M,MELK:NM_001256685:exon7:c.A540G:p.I180M,MELK:NM_014791:exon7:c.A540G:p.I180M	.	.	.	.	.	.	.	.	.	.	.	3985800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	0.0625716275387	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs771092591	1.095e-05	1.163e-05	9.538e-06	1.239e-05	0.0002	6.49e-06	5.25e-06	6.53e-06	5.03e-06	0	2.237e-05	0	0	0	0.0002	1.17e-05	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.041560	0.999998	0.81001	D	1.83	0.48079	L	-0.39	0.69158	T	-2.85	0.60507	D	0.791	0.79310	-0.4537	0.70278	T	0.343	0.70875	T	10	0.72056746	0.73634	D	0.062572	0.68695	D	0.519	0.79522	0.706	0.84236	0.78569462016	0.78371	0.58921557791537	0.58851	0.509634769569	0.49093	0.795681238174	0.81306	T	0.12897	0.45696	T	0.0859028	0.62725	D	-0.0507371	0.66971	D	0.906372308731079	0.56037	D	0.956404	0.84742	D	0.8909978	0.90592	0.75544286	0.85547	0.8909978	0.90594	0.75544286	0.85548	-12.263	0.88150	D	.	.	0.431	0.62018	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.014951	0.59257	24.1	0.99646758996255524	0.77005	0.79682	0.39532	D	AEFBI	0.219844	0.34467	N	0.368019952140907	0.59699	4.151337	0.329638466430652	0.57288	3.894024	0.826310770581613	0.24613	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.54	2.82	0.32061	0.667000	0.24794	5.827000	0.50131	0.739000	0.86063	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.3414:0.2253:0.0:0.4333	5.406	0.15622	579	0.69780	Protein kinase domain|Protein kinase domain|Protein kinase domain|Maternal embryonic leucine zipper kinase, catalytic domain;.;.;.;.;.;Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	526.33	43	chr9	36599459	.	A	G	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=2.63;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	18	0	1	0
chr9	36657365	36657365	T	C	splicing	MELK	NM_001256689:exon12:c.1080+2T>C;NM_001256690:exon11:c.963+2T>C;NM_001256688:exon11:c.963+2T>C;NM_001256691:exon11:c.936+2T>C;NM_001256692:exon10:c.783+2T>C;NM_001256687:exon12:c.1032+2T>C;NM_001256693:exon11:c.594+2T>C;NM_014791:exon13:c.1176+2T>C	.	.	.	431	1090	1	0	0	1	0.000458505	0.9446	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762236108	2.07e-06	3.42e-06	1.373e-06	2.776e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.669e-05	1.204e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0629331	0.42448	T	-0.218117	0.52917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	3.996175	0.58848	24.0	0.94671662976925341	0.25297	0.73048	0.35737	D	AEFBI	.	.	.	0.739062907737821	0.82190	7.702037	0.495220592321013	0.67674	5.115584	0.904053036955113	0.26169	0.156188	0.03335	0	0.104858	0.03167	0	0.231514	0.04749	0	0.109871	0.03346	0	0.950321	0.61932	4.11	4.11	0.47350	2.916000	0.48511	7.043000	0.57343	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.0:1.0	9.808	0.39973	548	0.72362	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	538.33	34	chr9	36657365	.	T	C	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.938;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr9	36966691	36966691	G	A	exonic	PAX5	.	nonsynonymous SNV	PAX5:NM_001280551:exon5:c.C314T:p.S105L,PAX5:NM_001280553:exon5:c.C509T:p.S170L,PAX5:NM_001280554:exon5:c.C509T:p.S170L,PAX5:NM_001280555:exon5:c.C440T:p.S147L,PAX5:NM_001280556:exon5:c.C314T:p.S105L,PAX5:NM_001280547:exon6:c.C638T:p.S213L,PAX5:NM_001280548:exon6:c.C638T:p.S213L,PAX5:NM_001280549:exon6:c.C638T:p.S213L,PAX5:NM_001280550:exon6:c.C638T:p.S213L,PAX5:NM_001280552:exon6:c.C638T:p.S213L,PAX5:NM_016734:exon6:c.C638T:p.S213L	.	415	1105	2	0	0	2	0.000904159	.	.	.	138740	not_specified|not_provided|Leukemia,_acute_lymphoblastic,_susceptibility_to,_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.605	0.292988438015	0.0009	.	0.0007	0.0003	0.0003	0	0	0.0010	0.0011	0.0002	0.0006598	102	154602	rs137870876	0.0010	0.0010	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0	0	9.362e-05	0.0002	0.0013	0.0008	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0009	0.0001	0.0033	0.0001	0	0	0	0	0.0011	0.0005	0.0004	0.006	0.78490	D	0.049	0.79402	D	0.458	0.45525	P	0.017	0.37636	B	0.004009	0.34221	N	0.289697	0.999765	0.53665	D	2.215	0.62545	M	-4.26	0.98096	D	-4.13	0.83422	D	0.425	0.48319	1.103	0.99785	D	0.955	0.98531	D	10	0.25095463	0.42428	T	0.292988	0.90627	D	0.605	0.84452	.	.	0.910647563361	0.90974	0.5859175941848557	0.58521	0.907193985159	0.70892	0.731673717499	0.71751	T	0.53234	0.83839	D	0.0277112	0.55417	T	0.216588	0.84002	D	0.0788527879035309	0.09839	T	0.968203	0.88631	D	0.28643358	0.51659	0.25361952	0.51013	0.25854483	0.48904	0.27562985	0.53499	-12.155	0.85967	D	.	.	0.102	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.133881	0.85920	28.7	0.99858115849424778	0.93639	0.89486	0.49981	D	AEFDBHCI	0.692559	0.65218	D	0.44761216933599	0.64068	4.653191	0.505466564131464	0.68358	5.208961	0.999999669254193	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	5.661000	0.67694	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	19.428	0.94743	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	563.33	35	chr9	36966691	.	G	A	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.012;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr9	37126517	37126517	C	T	exonic	ZCCHC7	.	nonsynonymous SNV	ZCCHC7:NM_001289119:exon2:c.C185T:p.S62L,ZCCHC7:NM_001289120:exon2:c.C185T:p.S62L,ZCCHC7:NM_001289121:exon2:c.C185T:p.S62L,ZCCHC7:NM_032226:exon2:c.C185T:p.S62L	.	439	1069	14	0	0	14	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0347055215802	0.0007	0.000199681	0.0008	9.61e-05	0.0003	0.0001	0	0.0006	0.0011	0.0031	0.0006792	105	154602	rs140974537	0.0006	0.0006	0.0005	0.0008	0.0070	0.0006	0.0006	0.0053	0.0047	0.0001	0.0004	0.0055	2.52e-05	0	0.0070	0.0002	0.0012	0.0042	0.0005	0.0005	0.0004	0.0005	0.0042	0.0004	0.0004	0.0028	0.0023	4.816e-05	0	0.0003	0.0075	0	0	0.0068	0.0002	0.0019	0.0042	0.175	0.22400	T	0.569	0.08839	T	0.154	0.28120	B	0.01	0.14941	B	0.493345	0.12032	N	0.786928	1	0.81001	D	2.045	0.56016	M	1.48	0.45636	T	-0.55	0.32590	N	0.212	0.23632	-1.0757	0.08205	T	0.085	0.33128	T	10	0.0041956007	0.00083	T	0.034706	0.55857	D	0.019	0.03383	.	.	0.0401082797425	0.02173	0.1609163279382368	0.16012	0.199109149286	0.22306	0.340645521879	0.16534	T	0.036471	0.42828	T	-0.528784	0.00390	T	-0.534127	0.18876	T	0.0117328902420202	0.00180	T	0.49655	0.15423	T	0.026255837	0.01660	0.040907335	0.04529	0.026255837	0.01660	0.040907335	0.04529	-3.434	0.15518	T	.	.	0.065	0.01859	B	.;.;.	.;.;.	1.140797	0.15283	11.73	0.92345992591805104	0.21746	0.15828	0.19101	N	AEFGBHCI	0.043504	0.06886	N	-0.722114827232662	0.15401	0.7758299	-0.679745942822439	0.17467	0.9289364	0.999998522959329	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.74	0.31352	0.005000	0.13029	0.806000	0.21705	-0.214000	0.08267	0.000000	0.06391	0.997000	0.33255	0.013000	0.09966	0.0:0.6037:0.2558:0.1405	7.514	0.26758	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1946.33	33	chr9	37126517	.	C	T	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=790;ExcessHet=0;FS=9.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.36;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	37430637	37430659	ACATCAGCAGGTATCCTAGGGCC	-	exonic	GRHPR	.	frameshift deletion	GRHPR:NM_012203:exon7:c.725_734del:p.N242Rfs*5	Hyperoxaluria, primary, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1922.29	33	chr9	37430636	.	AACATCAGCAGGTATCCTAGGGCC	A	1922.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=785;ExcessHet=0;FS=9.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.4;SOR=1.369	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	37442136	37442136	C	T	exonic	ZBTB5	.	nonsynonymous SNV	ZBTB5:NM_014872:exon2:c.G416A:p.R139H	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00873069930142	0.0002	0.000798722	0.0007	9.879e-05	0.0003	0	0	0.0003	0.0011	0.0036	0.0006015	93	154602	rs141061010	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	8.961e-05	0.0002	0.0026	2.519e-05	0	0.0019	6.295e-05	0.0005	0.0040	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0002	0.0020	0	0	0	0.0001	0	0.0041	0.235	0.18000	T	0.159	0.31527	T	0.001	0.07471	B	0.001	0.04355	B	0.000046	0.53742	D	0.125962	0.999997	0.58761	D	0.695	0.17993	N	3.05	0.08721	T	0.95	0.01509	N	0.319	0.35938	-0.9961	0.31001	T	0.016	0.06616	T	10	0.0057759285	0.00129	T	0.008731	0.23050	T	0.158	0.41098	.	.	0.215239754934	0.21150	0.24412335563864507	0.24326	0.304373407854	0.32745	0.626783251762	0.56688	T	0.019291	0.15396	T	-0.480847	0.00731	T	-0.465269	0.26027	T	0.0271012424795707	0.01559	T	0.842916	0.51943	T	0.10248521	0.24216	0.07335236	0.15931	0.10248521	0.24216	0.07335236	0.15930	-2.747	0.07706	T	.	.	0.358	0.57060	A	.	.	3.029713	0.40581	21.2	0.99773930008033707	0.86174	0.87501	0.47061	D	AEFDBCI	0.526492	0.54882	D	-0.159967311720865	0.34812	1.991852	0.0482508688715663	0.41988	2.531865	0.999999999273547	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.54	4.65	0.57626	2.884000	0.48261	4.915000	0.45989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9298:0.0:0.0702	14.373	0.66419	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3296.83	43	chr9	37442136	.	C	T	3296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.864;DP=935;ExcessHet=0.119;FS=0.454;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.721;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	2	0
chr9	37529211	37529211	T	C	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon5:c.A1619G:p.N540S	.	.	.	.	.	.	.	.	.	.	.	2214074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0157933105743	.	.	4.761e-05	0	0	0	0	6.79e-05	0	6.992e-05	3.88e-05	6	154602	rs553961005	3.627e-05	3.625e-05	3.268e-05	3.991e-05	0.0002	2.829e-05	2.566e-05	8.017e-05	6.252e-05	5.975e-05	2.24e-05	0	0	0	0.0002	2.969e-05	6.627e-05	0.0001	3.943e-05	3.94e-05	5.14e-05	2.69e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0.0005	0	0.137	0.25979	T	0.28	0.21678	T	0.114	0.26387	B	0.097	0.30390	B	0.000000	0.84330	D	0.047133	0.999537	0.47451	D	1.5	0.37844	L	-1.17	0.78199	T	-1.85	0.43334	N	0.228	0.25622	-0.7346	0.58730	T	0.256	0.62620	T	10	0.1910131	0.34770	T	0.015793	0.36715	T	0.223	0.52023	.	.	0.729353230476	0.72695	0.6998787708294126	0.69928	0.420232389558	0.42552	0.657099246979	0.60995	T	0.069023	0.33606	T	-0.213988	0.18820	T	-0.363009	0.37703	T	0.204433411359787	0.20658	T	0.883612	0.60617	D	0.084902965	0.19672	0.108170226	0.26052	0.084902965	0.19672	0.108170226	0.26052	-7.699	0.59001	D	.	.	0.120	0.24633	B	.	.	2.887178	0.38222	20.7	0.99364848310843723	0.61155	0.77160	0.37908	D	AEFDGBHCI	0.290805	0.40209	N	-0.105024481395824	0.37172	2.158945	0.0989466470499654	0.44497	2.730251	0.99999999962235	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	3.244000	0.51098	4.273000	0.42854	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0827:0.0:0.9173	9.173	0.36256	599	0.68140	Right handed beta helix domain|Carbohydrate-binding/sugar hydrolysis domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2346.33	35	chr9	37529211	.	T	C	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=816;ExcessHet=0;FS=0.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.627;SOR=0.64	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	37541580	37541580	C	A	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon2:c.G189T:p.Q63H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0427210901321	8.1e-05	0.000399361	0.0003	0.0001	0.0002	0	0.0002	0.0003	0	0.0009	0.0002781	43	154602	rs181709089	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0009	0.0008	8.961e-05	0	0.0003	0	1.873e-05	0	0.0005	0.0003	0.0010	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0009	0	0	0	0.0003	0	0.0006	0.007	0.59928	D	0.029	0.54541	D	0.995	0.67487	D	0.854	0.60866	P	0.000001	0.62929	D	0.060564	0.999914	0.81001	D	1.935	0.51832	L	0.53	0.55090	T	-0.96	0.51157	N	0.412	0.45237	-0.7221	0.59359	T	0.200	0.55584	T	10	0.04618463	0.03778	T	0.042721	0.60614	D	0.175	0.44197	0.159	0.06287	0.783281269435	0.78128	0.6140809846443877	0.61340	0.964045552098	0.73106	0.638029098511	0.58284	T	0.04643	0.27422	T	-0.28436	0.10210	T	-0.237588	0.51034	T	0.0863505601882935	0.10779	T	0.865613	0.57909	D	0.2572649	0.48769	0.18737893	0.41967	0.2572649	0.48769	0.18737893	0.41966	-7.276	0.56024	T	.	.	0.180	0.39134	B	.;.	.;.	3.002693	0.40130	21.1	0.99714469118351468	0.81563	0.93527	0.58460	D	AEFBI	0.374853	0.45960	N	0.356776948534306	0.59098	4.086566	0.38089568692313	0.60387	4.225756	0.997639962564204	0.35843	0.719381	0.83141	0	0.709663	0.81188	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.7	4.8	0.61157	1.065000	0.30202	-0.208000	0.10880	0.599000	0.40250	1.000000	0.71638	0.234000	0.23804	0.997000	0.79791	0.0:0.9237:0.0:0.0762	13.540	0.61128	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2234.33	34	chr9	37541580	.	C	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.207;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr9	37708413	37708413	G	A	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon4:c.G274A:p.G92S,FRMPD1:NM_001371225:exon4:c.G274A:p.G92S,FRMPD1:NM_014907:exon4:c.G274A:p.G92S,FRMPD1:NM_001371224:exon5:c.G274A:p.G92S	.	.	.	.	.	.	.	.	.	.	.	2291644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.491	0.0540115837287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017054886	3.771e-05	4.036e-05	4.914e-05	2.618e-05	0.0002	2.967e-05	2.662e-05	3.468e-05	3.13e-05	0	0	0	0	0	0.0002	4.509e-05	1.659e-05	3.481e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	0.18	0.60361	T	-3.77	0.71397	D	0.713	0.76666	-0.2182	0.77199	T	0.404	0.75430	T	10	0.8036151	0.79729	D	0.054012	0.65694	D	0.491	0.77783	0.694	0.83126	0.89508434464	0.89404	0.6843717735326942	0.68376	0.632580163813	0.57186	0.556144118309	0.46723	T	0.070042	0.33862	T	0.146801	0.68969	D	-0.0114216	0.69593	D	0.985069334506989	0.76171	D	0.981135	0.93511	D	0.58947295	0.72122	0.69503176	0.82045	0.58947295	0.72123	0.69503176	0.82046	-8.453	0.64117	D	.	.	0.252	0.50398	B	.;.	.;.	5.439160	0.90915	32	0.99900992246896447	0.97275	0.88872	0.49013	D	AEFBI	0.589489	0.58635	D	0.820699622953326	0.87382	9.198858	0.799679001813555	0.89771	10.11432	0.999999929587101	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	5.91	0.95240	4.562000	0.60528	11.813000	0.96995	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.786	0.78072	788	0.46569	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	877.33	35	chr9	37708413	.	G	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.656;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.884;SOR=0.749	GT:AD:DP:GQ:PL	0/1:20,35:55:99:891,0,477	18	0	1	0
chr9	37735550	37735550	A	C	splicing	FRMPD1	NM_001371224:exon14:c.1219-2A>C;NM_001371225:exon13:c.1219-2A>C;NM_014907:exon13:c.1219-2A>C;NM_001371223:exon13:c.1219-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	6.841e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327874	0.85020	D	0.233192	0.84824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.521620	0.95345	34	0.99533568833141062	0.70025	0.99191	0.92574	D	AEFGBI	.	.	.	1.18165044588441	0.99364	22.187	1.04267466025518	0.99295	21.737	0.999976139128194	0.50053	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.978751	0.83050	5.84	5.84	0.93373	8.890000	0.92121	11.214000	0.89510	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	12.618	0.55946	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	879.33	34	chr9	37735550	.	A	C	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=706;ExcessHet=0;FS=3.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.293;SOR=1.157	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1311	18	0	1	0
chr9	37740804	37740804	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon15:c.C2276T:p.P759L,FRMPD1:NM_001371225:exon15:c.C2276T:p.P759L,FRMPD1:NM_014907:exon15:c.C2276T:p.P759L,FRMPD1:NM_001371224:exon16:c.C2276T:p.P759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0154358754295	.	0.000199681	2.483e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs546200227	9.577e-06	9.577e-06	8.167e-06	1.1e-05	2.236e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	1.872e-05	0	8.993e-06	3.311e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.79	0.44599	P	0.36	0.43183	B	0.068893	0.21642	N	0.517317	0.946895	0.26617	N	2.38	0.68558	M	2.57	0.13552	T	-4.98	0.82141	D	0.16	0.17140	-1.0475	0.15102	T	0.069	0.28180	T	10	0.13054946	0.24845	T	0.015436	0.36172	T	0.077	0.22490	0.289	0.24921	0.409124616982	0.40530	0.4859161840309267	0.48511	0.165591226774	0.18678	0.3413875103	0.16645	T	0.167427	0.51406	T	-0.337391	0.05570	T	-0.614758	0.11603	T	0.824055075645447	0.48075	D	0.653935	0.26417	T	0.09453393	0.22229	0.17796858	0.40434	0.09453393	0.22228	0.17796858	0.40433	-4.795	0.34533	T	.	.	0.074	0.04932	B	.;.	.;.	2.194821	0.27984	17.65	0.9917480210234777	0.54498	0.14155	0.18252	N	AEFDGBI	0.165615	0.29213	N	-0.158283001528843	0.34884	1.996797	-0.248487340959466	0.29823	1.674064	0.999980030572841	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	3.56	0.39892	3.517000	0.53201	0.809000	0.21733	0.599000	0.40250	0.097000	0.22731	0.000000	0.08366	0.616000	0.31793	0.0:0.8165:0.0:0.1835	9.340	0.37233	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	904.33	50	chr9	37740804	.	C	T	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.813;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	0	1	0
chr9	38395856	38395856	C	G	exonic	ALDH1B1	.	stopgain	ALDH1B1:NM_000692:exon2:c.C108G:p.Y36X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000630	0.42799	D	0.101013	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.705	0.70878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507418	0.94509	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.865822	0.96938	36	0.99256916445654253	0.57088	0.89573	0.50124	D	AEFGBCI	0.176890	0.30411	N	0.488620443827627	0.66425	4.948339	0.298873158617955	0.55472	3.710392	0.999883149843766	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.81	2.57	0.29928	1.239000	0.32322	0.054000	0.14040	0.599000	0.40250	0.982000	0.35529	0.385000	0.24635	0.694000	0.33958	0.0:0.7437:0.0:0.2563	10.204	0.42280	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2089.33	36	chr9	38395856	.	C	G	2089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=812;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.288;SOR=0.581	GT:AD:DP:GQ:PL	0/1:84,82:166:99:2103,0,2112	18	0	1	0
chr9	38424181	38424181	C	T	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.G244A:p.G82S	.	466	1053	3	0	0	3	0.00142248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.127639810993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285537371	2.956e-06	7.525e-06	3.731e-06	2.089e-06	5.247e-05	7.9e-07	2.2e-07	.	.	0	0	0	0	0	0	1.138e-06	2.588e-05	5.247e-05	6.695e-06	6.602e-06	1.306e-05	0	2.429e-05	0	0	.	.	2.429e-05	0	0	0	0	0	0	0	0	0	0.565	0.06282	T	0.685	0.06014	T	1.0	0.90584	D	0.937	0.67262	D	0.021708	0.26779	U	0.170417	0.993721	0.23659	N	2.215	0.62545	M	0.46	0.56281	T	-0.49	0.15578	N	0.385	0.42639	-0.9381	0.42916	T	0.178	0.52396	T	10	0.38058144	0.54163	T	0.12764	0.80948	D	0.224	0.52174	0.34	0.33141	0.62988413793	0.62685	0.3237753357082125	0.32290	0.853889919278	0.68674	0.886510491371	0.94818	D	0.003491	0.02899	T	-0.0477019	0.44795	T	-0.306297	0.44056	T	0.931298315525055	0.59657	D	0.532447	0.17709	T	0.12677917	0.29686	0.079990454	0.18057	0.12677917	0.29686	0.079990454	0.18056	-5.984	0.46146	T	.	.	0.147	0.32372	B	.	.	3.358835	0.46366	22.3	0.9803862253866592	0.37774	0.31110	0.24254	N	AEFDBHCIJ	0.087198	0.17681	N	-0.275189982844951	0.30109	1.675883	-0.453975430907185	0.23436	1.27807	0.999999999143707	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	2.140000	0.41783	4.107000	0.41897	0.487000	0.22268	0.277000	0.25113	0.999000	0.35428	0.002000	0.04165	0.0:1.0:0.0:0.0	11.667	0.50642	908	0.22609	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	370.42	7	chr9	38424181	.	C	T	370.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.905;DP=269;ExcessHet=0;FS=4.867;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=0.847;SOR=1.93	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	18	0	1	0
chr9	38424324	38424324	C	T	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.G101A:p.R34Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0455263235106	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017396105	1.037e-06	4.719e-05	0	2.056e-06	1.339e-06	0	0	.	.	0	0	0	0	0	0	1.339e-06	0	0	6.631e-06	6.57e-06	1.295e-05	0	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	0.044	0.41096	D	0.29	0.21011	T	0.678	0.41346	P	0.043	0.24256	B	0.680114	0.10266	U	0.748593	1	0.08975	N	0	0.06538	N	2.75	0.11622	T	-0.05	0.07736	N	0.138	0.13626	-1.0277	0.21200	T	0.015	0.06234	T	10	0.12133154	0.22998	T	0.045526	0.62022	D	0.038	0.09825	0.26	0.20315	0.28297238246	0.27903	0.2599447318811263	0.25907	0.373885453608	0.38847	0.831812441349	0.86839	D	0.001552	0.00995	T	-0.253914	0.13622	T	-0.602506	0.12602	T	0.210676431655884	0.20989	T	0.453055	0.12870	T	0.08581808	0.19923	0.04206032	0.04925	0.08581808	0.19923	0.04206032	0.04925	-4.831	0.34951	T	.	.	0.093	0.13876	B	.	.	2.685035	0.35034	19.79	0.99775897553971349	0.86346	0.01645	0.05289	N	AEFDBHCI	0.029239	0.02722	N	-0.657916524253017	0.17230	0.8848538	-0.754324932856767	0.15616	0.8221912	0.999999964178279	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.56751	0.32155	0	.	.	3.14	2.19	0.26890	2.508000	0.45111	1.386000	0.26075	0.431000	0.20936	0.125000	0.23262	0.790000	0.26855	0.009000	0.08673	0.0:0.7288:0.0:0.2711	5.480	0.16010	908	0.22609	Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr9	38424324	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=698;ExcessHet=0;FS=3.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.94;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,114,1189:.	18	0	1	0
chr9	39078767	39078767	G	T	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon22:c.C3596A:p.P1199H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.463037128718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.031	0.54159	D	0.117	0.32870	B	0.008	0.27432	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-2.56	0.91134	D	-0.57	0.17210	N	0.068	0.08227	-0.5250	0.67729	T	0.423	0.76770	T	9	0.1626207	0.30473	T	0.463037	0.94547	D	0.088	0.25558	0.292	0.25400	0.663816143375	0.66099	0.3781253810273098	0.37727	.	.	0.860790371895	0.91227	D	0.018688	0.15024	T	-0.0788451	0.39902	T	-0.351032	0.39087	T	0.124918663577036	0.14905	T	0.623938	0.24648	T	0.10178042	0.24043	0.079967454	0.18048	0.10178042	0.24043	0.079967454	0.18047	-8.01	0.61138	D	.	.	0.168	0.37932	B	.;.	.;.	1.865799	0.23701	16.12	0.95136046552492159	0.26251	0.05018	0.10798	N	AEFDBHCI	0.029093	0.02684	N	-0.977927883151467	0.09076	0.4280886	-1.0485787843777	0.08737	0.4310187	1.35465726334374E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.475579	0.07313	0	0.567892	0.33627	0	.	.	2.09	1.14	0.19817	1.040000	0.29888	-4.011000	0.02395	0.593000	0.32247	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.7399:0.2601	7.436	0.26330	988	0.01987	Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	46.91	.	chr9	39078767	.	G	T	46.91	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.593;DP=143;ExcessHet=0;FS=0;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=46.38;MQRankSum=-0.967;QD=4.69;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:21:.:.:0,21,233:.	17	0	1	1
chr9	39149856	39149856	C	-	exonic	CNTNAP3	.	frameshift deletion	CNTNAP3:NM_033655:exon10:c.1599delG:p.L534Wfs*9	.	485	1006	31	0	0	31	0.0151738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	rs1453339510	0.0004	0.0051	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0006	0.0001	0.0009	0.0004	0	0.0001	0.0002	0.0004	0.0004	0.0001	0.0003	0.0022	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0011	0.0005	0	0	0.0002	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	52.32	15	chr9	39149855	.	GC	G	52.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.414;DP=241;ExcessHet=0;FS=0;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.026;MQ=40.52;MQRankSum=-1.611;QD=6.54;ReadPosRankSum=0;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:42:.:.:0,42,395:.	18	0	1	0
chr9	39149858	39149858	C	A	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon10:c.G1597T:p.A533S	.	485	1003	34	0	0	34	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0108717051771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484419033	0.0004	0.0052	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0002	0.0008	0.0005	0	9.564e-05	0	0.0004	0.0004	8.299e-05	0.0002	0.0022	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0.0011	0.0003	0	0	0.0002	0	0.0003	0	0	1.0	0.02161	T	0.774	0.04619	T	0.001	0.15535	B	0.002	0.13708	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-1.03	0.76430	T	0.2	0.06138	N	0.062	0.06322	-0.9820	0.34538	T	0.172	0.51341	T	9	0.052612126	0.05321	T	0.010872	0.27894	T	0.162	0.41843	.	.	0.433600339574	0.42977	0.3437098445241947	0.34284	.	.	0.677286505699	0.63879	T	3.38E-4	0.00092	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.015555230591159	0.00353	T	0.561544	0.19673	T	0.03978719	0.05560	0.041134737	0.04607	0.03978719	0.05559	0.041134737	0.04607	-5.51	0.41961	T	.	.	0.068	0.05404	B	.;.;.;.	.;.;.;.	-0.079541	0.03764	0.786	0.91750366764953561	0.21049	0.04865	0.10603	N	AEFCI	0.055787	0.10258	N	-1.06548804724725	0.07287	0.3380553	-1.03089460491369	0.09110	0.4514132	7.75493372009555E-5	0.04552	0.615465	0.37627	0	0.588015	0.36545	0	0.685742	0.62368	0	0.655142	0.61905	0	.	.	2.95	-0.119	0.12883	-1.304000	0.02849	-15.477000	0.00355	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.758000	0.36073	0.1852:0.4881:0.0:0.3267	3.478	0.07157	988	0.01987	Laminin G domain;Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.35	16	chr9	39149858	.	C	A	52.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=40.52;MQRankSum=-1.611;QD=6.54;ReadPosRankSum=0;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:45:.:.:0,45,416:.	18	0	1	0
chr9	39359320	39359320	A	C	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A1555C:p.K519Q	.	469	1052	0	1	0	2	0.000949668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000771916223573	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs2572614	0.0017	0.0057	0.0016	0.0019	0.0146	0.0016	0.0016	0.0136	0.0132	0.0009	0.0098	0.0004	0.0146	0.0027	0.0005	0.0007	0.0016	0.0056	0.0005	0.0034	0.0004	0.0006	0.0043	0.0004	0.0004	0.0028	0.0023	0.0004	0.0011	0.0009	0.0003	0.0043	0.0002	0	0.0003	0.0015	0.0007	.	.	.	0.142	0.33330	T	.	.	.	.	.	.	0.341417	0.04190	N	1.381230	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.03283	-0.9962	0.30974	T	0.015	0.05801	T	10	0.044816375	0.03482	T	7.72E-4	0.00568	T	0.036	0.09122	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.282098	0.10446	T	-0.64299	0.09452	T	0.143511976695341	0.16573	T	0.282272	0.04954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203645	0.05883	2.321	0.34063589009220707	0.02064	0.01302	0.04521	N	AEFI	0.028358	0.02483	N	-0.85383629983388	0.11956	0.5799453	-0.953530573822663	0.10841	0.5486533	6.24378858652521E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.19	2.19	0.26890	0.453000	0.21523	-1.283000	0.05821	-0.139000	0.12461	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	6.467	0.21188	988	0.01987	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	166.35	39	chr9	39359320	.	A	C	166.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.792;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=0.2626;MLEAC=1;MLEAF=0.026;MQ=33.11;MQRankSum=1.47;QD=23.76;ReadPosRankSum=-1.465;SOR=2.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr9	39361079	39361079	C	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C3314A:p.P1105H	.	489	1016	9	3	5	20	0.0073278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00158882339477	.	.	0.0013	0	0.0004	0	0.0002	0.0015	0.0034	0.0032	0.0010802	167	154602	rs200116475	0.0010	0.0010	0.0008	0.0011	0.0053	0.0009	0.0009	0.0036	0.0034	0.0002	0.0009	0.0053	0	0.0002	0.0053	0.0007	0.0012	0.0039	0.0007	0.0007	0.0007	0.0007	0.0027	0.0006	0.0006	0.0016	0.0013	7.3e-05	0	0.0016	0.0049	0	0.0002	0	0.0007	0.0005	0.0027	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	0.282808	0.03845	N	1.572250	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-1.0297	0.20551	T	0.022	0.09238	T	10	0.008469224	0.00192	T	0.001589	0.02548	T	0.029	0.06676	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.604929	0.00136	T	-0.643821	0.09393	T	0.0364628390443406	0.03062	T	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804881	0.11755	8.332	0.97373741219043686	0.33637	0.00804	0.03270	N	AEFI	0.032014	0.03537	N	-0.610707771108468	0.18622	0.9682712	-0.872194910843158	0.12755	0.6579369	1.10332305659469E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	-0.208	0.12536	-1.216000	0.03092	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.272:0.5537:0.0:0.1743	2.740	0.04929	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3122.33	50	chr9	39361079	.	C	A	3122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=1138;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.77;MQRankSum=-0.285;QD=11.23;ReadPosRankSum=0.975;SOR=0.75	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	120.4	5	chr9	41127944	.	C	A	120.4	.	AC=2;AF=0.056;AN=36;DP=107;ExcessHet=0;FS=0;InbreedingCoeff=0.63;MLEAC=1;MLEAF=0.028;MQ=24.21;QD=24.08;SOR=3.611	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,312	17	1	0	1
chr9	41922773	41922773	-	T	exonic	CNTNAP3B	.	frameshift insertion	CNTNAP3B:NM_001201380:exon17:c.2658dupA:p.G887Rfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	360.29	47	chr9	41922773	.	C	CT	360.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.086;DP=819;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.07;MQRankSum=1.77;QD=6.67;ReadPosRankSum=-0.076;SOR=0.803	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr9	41922885	41922885	T	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon17:c.A2547T:p.E849D	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs577420243	0.0001	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0005	0	0.0002	0.0004	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0002	0.0002	0.0001	0.0006	9.767e-05	8.277e-05	0.0002	9.022e-05	4.842e-05	0	6.562e-05	0.0006	0	0	0	0.0002	0.0005	0.0006	.	.	.	0.175	0.29945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.29544	.	.	.	.	.	.	.	0.1888164	0.34453	T	.	.	.	.	.	.	.	.	.	0.2688253277306522	0.26795	.	.	.	.	.	0.181299	0.53293	T	.	.	.	.	.	.	.	.	.	0.630737	0.24588	T	.	.	.	.	.	.	.	.	-7.596	0.58283	D	.	.	0.215	0.44475	B	.;.	.;.	1.580829	0.20228	14.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.749000	0.37946	-7.660000	0.01111	0.312000	0.19173	0.997000	0.40164	0.000000	0.08366	0.974000	0.55675	.	.	.	994	0.00715	Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	372.33	47	chr9	41922885	.	T	A	372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.152;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.06;MQRankSum=-0.474;QD=4.6;ReadPosRankSum=-0.269;SOR=0.679	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr9	41953269	41953269	T	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon13:c.A1994T:p.Q665L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279738021	7.271e-07	1.368e-06	0	1.472e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.67477	.	.	.	.	.	.	.	0.5873157	0.66184	D	.	.	.	.	.	.	.	.	.	0.7020561504015097	0.70146	.	.	.	.	.	0.202036	0.56009	T	.	.	.	.	.	.	.	.	.	0.765923	0.39354	T	.	.	.	.	.	.	.	.	-12.397	0.86731	D	.	.	0.462	0.62806	A	.;.;.;.	.;.;.;.	3.504903	0.49059	22.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.746000	0.54846	3.686000	0.39482	0.324000	0.19419	1.000000	0.71638	0.999000	0.35428	0.024000	0.12247	.	.	.	994	0.00715	.;.;Laminin G domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	919.83	34	chr9	41953269	.	T	A	919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=759;ExcessHet=0.119;FS=0.729;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-1.968;QD=6.48;ReadPosRankSum=1.06;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	17	0	2	0
chr9	41964555	41964555	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon11:c.G1739A:p.G580D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.323e-06	7.525e-06	0	8.774e-06	3.882e-05	1.56e-06	1.02e-06	1.031e-05	4.86e-06	0	0	0	0	0	0	1.862e-06	1.741e-05	3.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.9108832	0.90453	D	.	.	.	.	.	.	.	.	.	0.8404169147633284	0.84001	.	.	.	.	.	0.374562	0.73833	T	.	.	.	.	.	.	.	.	.	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-11.524	0.82456	D	.	.	0.601	0.68925	P	.;.;.	.;.;.	4.105950	0.61261	24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.905000	0.75535	7.328000	0.58192	0.298000	0.18894	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	.	.	.	994	0.00715	EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	113	chr9	41964555	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.057;DP=1380;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.46;MQRankSum=1.76;QD=5.99;ReadPosRankSum=1.17;SOR=0.546	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr9	41964613	41964613	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon11:c.G1681A:p.E561K	.	545	972	5	0	0	5	0.00256542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199769614	6.2e-05	0.0002	5.968e-05	6.439e-05	0.0008	5.139e-05	4.738e-05	0.0002	0.0002	3.212e-05	5.76e-05	0	5.571e-05	0.0003	0.0008	2.792e-05	0.0001	0.0003	7.884e-05	0.0002	7.713e-05	8.062e-05	0.0002	4.496e-05	3.512e-05	1.973e-05	1.125e-05	7.231e-05	0	6.537e-05	0	0	0.0002	0	5.883e-05	0.0005	0.0002	.	.	.	0.507	0.18675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.33140	.	.	.	.	.	.	.	0.12276894	0.23294	T	.	.	.	.	.	.	.	.	.	0.30461603973527335	0.30374	.	.	.	.	.	5.39E-4	0.00207	T	.	.	.	.	.	.	.	.	.	0.29517	0.06377	T	.	.	.	.	.	.	.	.	-7.138	0.55035	T	.	.	0.071	0.04558	B	.;.;.	.;.;.	1.143617	0.15312	11.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252000	0.08825	-0.484000	0.08901	0.298000	0.18894	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	.	.	.	994	0.00715	EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	518.88	106	chr9	41964613	.	C	T	518.88	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=1382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0573;MLEAC=2;MLEAF=0.053;MQ=45.41;MQRankSum=-1.191;QD=3.44;ReadPosRankSum=-0.726;SOR=0.746	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	17	0	2	0
chr9	41998470	41998470	C	G	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon5:c.G673C:p.E225Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780869426	4.04e-05	6.02e-05	4.36e-05	3.716e-05	0.0003	3.182e-05	2.913e-05	6.105e-05	3.29e-05	0	2.242e-05	0	0	0	0.0003	4.68e-05	6.629e-05	0	6.579e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.011	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.35	0.80035	T	-2.4	0.52776	N	0.095	0.11912	.	.	.	.	.	.	.	0.25722504	0.43136	T	.	.	.	.	.	.	.	0.393471546983	0.38961	0.3467326279019942	0.34587	.	.	0.465151190758	0.34015	T	0.216579	0.57878	T	0.263282	0.79830	D	0.14041	0.79571	D	.	.	.	0.827517	0.54988	T	0.109958924	0.25994	0.27821928	0.53781	0.109958924	0.25994	0.27821928	0.53780	-9.396	0.70210	D	.	.	0.101	0.19839	B	.;.;.;.;.	.;.;.;.;.	3.372848	0.46622	22.3	0.80593893609186251	0.13277	0.58173	0.30571	D	AEFI	.	.	.	.	.	.	.	.	.	1.86574744467249E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.114772	0.24080	1.77	-0.405	0.11775	0.972000	0.29007	1.282000	0.25358	0.267000	0.18475	0.934000	0.32416	0.001000	0.17328	0.970000	0.54328	0.0:0.6151:0.0:0.3849	5.434	0.15768	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	536.33	34	chr9	41998470	.	C	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=824;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.76;MQRankSum=-2.076;QD=2.6;ReadPosRankSum=-0.192;SOR=0.561	GT:AD:DP:GQ:PL	0/1:161,45:206:99:550,0,3772	18	0	1	0
chr9	41998524	41998524	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon5:c.G619A:p.V207I	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs766280999	3.649e-05	6.02e-05	3.838e-05	3.458e-05	0.0003	2.846e-05	2.581e-05	6.129e-05	2.854e-05	3.05e-05	2.257e-05	0	0	0	0.0003	4.163e-05	5.004e-05	0	0	1.319e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.229	0.18371	T	0.357	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.24	0.78967	T	-0.45	0.14782	N	0.072	0.12913	.	.	.	.	.	.	.	0.10801202	0.20088	T	.	.	.	.	.	.	.	0.239305524855	0.23518	0.10311275505436213	0.10241	.	.	0.503315746784	0.39290	T	0.004101	0.03512	T	0.194912	0.73417	D	0.042201	0.73071	D	.	.	.	0.518948	0.24174	T	0.029005947	0.02327	0.089275785	0.20868	0.029005947	0.02326	0.089275785	0.20867	-5.855	0.45050	T	.	.	0.066	0.02285	B	.;.;.;.;.	.;.;.;.;.	-0.753750	0.01202	0.059	0.48573003093790629	0.04065	0.08093	0.14063	N	AEFI	.	.	.	.	.	.	.	.	.	1.97562157601626E-6	0.01202	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0852691	0.19417	1.77	-2.15	0.06705	0.136000	0.15794	-20.000000	0.00162	-1.956000	0.00480	0.006000	0.17386	0.000000	0.08366	0.070000	0.16646	0.0:0.5499:0.0:0.4501	6.577	0.21771	994	0.00715	Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	415.33	34	chr9	41998524	.	C	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.936;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.39;MQRankSum=-1.021;QD=3.12;ReadPosRankSum=-0.861;SOR=0.642	GT:AD:DP:GQ:PL	0/1:104,29:133:99:429,0,2741	18	0	1	0
chr9	42013399	42013399	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon4:c.G517A:p.E173K	.	.	.	.	.	.	.	.	.	.	.	3650737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775060475	0.0001	0.0002	0.0001	0.0001	0.0003	0.0001	9.265e-05	0.0002	0.0001	0	0.0002	0.0001	0	0	0	0.0002	0	0.0003	0.0001	0.0002	0.0002	4.713e-05	0.0003	6.965e-05	4.857e-05	0.0001	8.584e-05	0	0	0	0	0	0	0	0.0003	0	0	0.008	0.58626	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.13	0.99538	D	-3.55	0.68764	D	0.86	0.86297	.	.	.	.	.	.	.	0.82764006	0.81937	D	.	.	.	.	.	.	.	0.810141781319	0.80835	0.7522837676988433	0.75175	.	.	0.705412149429	0.67928	T	0.73537	0.92626	D	0.554588	0.95994	D	0.558851	0.95933	D	.	.	.	0.994562	0.98476	D	0.09052239	0.21185	0.28604808	0.54611	0.09052239	0.21185	0.28604808	0.54610	-9.965	0.73702	D	.	.	0.852	0.79883	P	.;.;.;.;.	.;.;.;.;.	4.566595	0.72014	25.8	0.93024620375800282	0.22622	0.84209	0.43292	D	AEFI	.	.	.	.	.	.	.	.	.	0.0552111489119693	0.15007	0.294411	0.05044	0	0.063388	0.01293	0	0.078618	0.02440	0	0.347871	0.05795	0	0.686874	0.42542	1.97	1.97	0.25278	7.100000	0.76641	7.316000	0.58145	0.275000	0.18574	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	9.496	0.38154	994	0.00715	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	48.79	10	chr9	42013399	.	C	T	48.79	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.52;DP=158;ExcessHet=0;FS=0;InbreedingCoeff=-0.0331;MLEAC=1;MLEAF=0.028;MQ=24.35;MQRankSum=0.967;QD=5.42;ReadPosRankSum=-0.366;SOR=0.283	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,242	17	0	1	1
chr9	42187639	42187639	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G1937T:p.G646V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0327215170659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs553243905	2.894e-06	5.593e-06	0	5.812e-06	2.456e-05	6.8e-07	4.6e-07	4.08e-06	1.53e-06	0	2.344e-05	0	0	0	0	0	1.757e-05	2.456e-05	0	7.437e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.205494	0.16494	N	0.517116	0.999966	0.18878	N	.	.	.	3.06	0.08634	T	-6.87	0.93175	D	0.127	0.12055	-1.1096	0.03104	T	0.050	0.21182	T	10	0.20917526	0.37272	T	0.002077	0.03828	T	.	.	.	.	0.266843984389	0.26308	0.10570439488518442	0.10500	.	.	0.334192693233	0.15566	T	0.104973	0.41503	T	-0.28152	0.10507	T	-0.642161	0.09512	T	0.240222989482147	0.22430	T	0.557244	0.19380	T	0.38358283	0.59574	0.2975186	0.55785	0.38358283	0.59575	0.2975186	0.55784	-7.394	0.56862	T	.	.	0.205	0.43144	B	.	.	1.916782	0.24347	16.36	0.98793784924134065	0.46333	0.01822	0.05664	N	AEFI	.	.	.	-0.270398820506792	0.30297	1.687972	-0.549742484110675	0.20813	1.123076	1.79801135556581E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.55	1.58	0.22557	-0.149000	0.10189	-4.593000	0.02078	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.0:0.2822:0.7178:0.0	7.111	0.24568	994	0.00715	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	76.13	35	chr9	42187639	.	G	T	76.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.634;DP=751;ExcessHet=0;FS=4.158;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=47.75;MQRankSum=-4.669;QD=0.56;ReadPosRankSum=-1.947;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	16	0	1	2
chr9	42188817	42188817	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3115T:p.P1039S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0456385205545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887831016	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0020	0.0001	0	0.0034	0	0.0007	8.193e-05	0.0003	7.165e-05	0.0006	0.0007	0.0007	0.0005	0.0020	0.0005	0.0005	0.0016	0.0014	0.0020	0	0.0002	0	0.0020	0	0	6.736e-05	0.0006	0.0003	0.028	0.46129	D	0.022	0.57587	D	.	.	.	.	.	.	0.727608	0.09882	N	0.817547	1	0.08975	N	.	.	.	3.76	0.03892	T	-1.24	0.31375	N	0.02	0.00308	-0.9852	0.33784	T	0.018	0.07612	T	10	0.07540965	0.11651	T	0.001683	0.02779	T	.	.	.	.	0.0954503805726	0.09146	0.12174031007356954	0.12101	.	.	0.281958669424	0.07768	T	0.00615	0.05589	T	-0.331355	0.06009	T	-0.713745	0.05104	T	0.293457955121994	0.24734	T	0.594241	0.21993	T	0.041383933	0.06083	0.046831865	0.06612	0.041383933	0.06083	0.046831865	0.06611	-2.49	0.05713	T	.	.	0.110	0.21125	B	.	.	0.663097	0.10314	7.046	0.98791614284431228	0.46301	0.00515	0.02406	N	AEFI	0.027532	0.02265	N	-0.631091542447212	0.18015	0.9319199	-0.868786497536138	0.12836	0.662633	1.09979115200389E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-0.13	0.12839	-0.113000	0.10745	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5112:0.0:0.4888	4.784	0.12586	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.45	34	chr9	42188817	.	C	T	1090.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.983;DP=632;ExcessHet=0;FS=4.66;InbreedingCoeff=-0.0343;MLEAC=1;MLEAF=0.026;MQ=34.65;MQRankSum=1.61;QD=15.58;ReadPosRankSum=-1.408;SOR=0.272	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	42188920	42188920	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3218A:p.A1073E	.	532	986	4	0	0	4	0.00202429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0396984975134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs553157776	0.0011	0.0011	0.0010	0.0011	0.0035	0.0010	0.0010	0.0032	0.0030	0.0002	0.0004	0	0	0	0.0025	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0033	0.0007	0.0007	0.0020	0.0016	0.0001	0	0.0007	0	0.0002	0	0	0.0013	0.0016	0.0033	0.056	0.38185	T	0.006	0.70582	D	.	.	.	.	.	.	0.166133	0.03075	N	1.768180	1	0.08975	N	.	.	.	3.73	0.03982	T	-2.12	0.48184	N	0.124	0.11626	-0.9646	0.38290	T	0.009	0.03011	T	10	0.038933992	0.02346	T	0.002343	0.04535	T	.	.	.	.	0.0138822411134	0.00435	0.154372607781962	0.15358	.	.	0.345601379871	0.17273	T	0.00223	0.01633	T	-0.308175	0.07909	T	-0.680448	0.06956	T	0.325911462306976	0.26060	T	0.352565	0.07917	T	0.12655447	0.29639	0.16716525	0.38581	0.12655447	0.29638	0.16716525	0.38580	-2.759	0.07812	T	.	.	0.148	0.32804	B	.	.	0.803135	0.11738	8.315	0.9656234791522339	0.30265	0.00443	0.02158	N	AEFI	0.029990	0.02933	N	-1.29893783815269	0.03689	0.1652296	-1.45170748048928	0.02755	0.127279	1.42478912111353E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-4.12	0.03650	-1.253000	0.02987	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.3059:0.3354:0.3587	4.134	0.09630	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	1918.13	34	chr9	42188920	.	C	A	1918.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.33;DP=901;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=46.7;MQRankSum=-2.356;QD=10.6;ReadPosRankSum=-0.872;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	0	1	2
chr9	42189370	42189370	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3668G:p.H1223R	.	459	1054	3	6	0	15	0.00706547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0583857480729	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs2605684	0.0009	0.0029	0.0006	0.0011	0.0102	0.0008	0.0008	0.0094	0.0090	0.0029	0.0004	0.0008	0.0102	0	0.0011	7.088e-05	0.0007	0.0075	0.0005	0.0021	0.0005	0.0005	0.0021	0.0004	0.0004	0.0010	0.0008	0.0011	0	0.0004	0.0003	0.0002	0	0	0.0001	0.0016	0.0021	0.52	0.07259	T	0.878	0.03241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	0.03382	T	0.44	0.03243	N	0.016	0.00203	.	.	.	.	.	.	.	0.026660025	0.00827	T	.	.	.	.	.	.	.	.	.	0.011995039232713214	0.01158	.	.	.	.	.	1.51E-4	0.00022	T	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-2.786	0.08055	T	.	.	0.051	0.00161	B	.	.	-1.082120	0.00662	0.018	.	.	.	.	.	.	0.025104	0.01662	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.920000	0.04121	-20.000000	0.00162	-2.266000	0.00332	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	101.72	34	chr9	42189370	.	A	G	101.72	.	AC=2;AF=0.056;AN=36;DP=2370;ExcessHet=0;FS=0;InbreedingCoeff=0.867;MLEAC=1;MLEAF=0.028;MQ=36.01;QD=20.34;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	1	0	1
chr9	42189384	42189384	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3682T:p.V1228L	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0403867784699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202011482	0.0011	0.0011	0.0010	0.0012	0.0035	0.0010	0.0010	0.0032	0.0031	0.0002	0.0004	0	0	0	0.0024	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0034	0.0008	0.0007	0.0021	0.0017	0.0001	0	0.0008	0	0.0002	0	0	0.0013	0.0021	0.0034	0.38	0.11191	T	0.526	0.10245	T	.	.	.	.	.	.	0.056137	0.02081	N	2.360930	1	0.08975	N	.	.	.	3.87	0.03597	T	-0.49	0.15578	N	0.026	0.00527	-0.9592	0.39330	T	0.010	0.03673	T	10	0.019815505	0.00447	T	0.001056	0.01191	T	.	.	.	.	0.0401082797425	0.02173	0.0145433691601484	0.01411	.	.	0.370967447758	0.20970	T	0.001185	0.00684	T	-0.415512	0.01828	T	-0.834631	0.01183	T	0.0512768542615498	0.05722	T	0.475152	0.14192	T	0.029822357	0.02540	0.0264825	0.00740	0.029822357	0.02540	0.0264825	0.00740	-3.541	0.17010	T	.	.	0.172	0.37839	B	.	.	-0.824000	0.01061	0.046	0.87571617011690062	0.17323	0.00062	0.00453	N	AEFI	0.017786	0.00491	N	-1.43502866729811	0.02337	0.1030748	-1.56008313653875	0.01907	0.08699791	0.00131151494683756	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.39	0.02457	-0.740000	0.04966	-20.000000	0.00162	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.2389:0.0:0.4794:0.2817	5.100	0.14089	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4170.33	34	chr9	42189384	.	G	T	4170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=2550;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=0.871;QD=12.45;ReadPosRankSum=0.97;SOR=0.813	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	60916888	60916888	T	G	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.T432G:p.D144E,SPATA31A7:NM_015667:exon4:c.T432G:p.D144E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00110755987743	.	.	0	0	0	0	0	0	0	0	.	.	.	.	0.0008	0.0007	0.0007	0.0009	0.0019	0.0007	0.0006	0.0014	0.0012	0.0002	0.0006	0.0004	0	0	0	0.0005	0.0018	0.0019	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	.	0	0	0	0	.	.	.	0.153	0.32144	T	0.376	0.34240	B	0.281	0.40336	B	0.233817	0.03536	N	1.706610	1	0.08975	N	2.26	0.64354	M	.	.	.	.	.	.	0.052	0.02366	-0.9907	0.32424	T	0.022	0.09375	T	10	0.06295791	0.08130	T	0.001963	0.03509	T	.	.	0.313	0.28774	0.0138822411134	0.00435	0.04192453732009555	0.04137	.	.	0.559368729591	0.47179	T	0.034064	0.23169	T	-0.194721	0.21568	T	-0.517479	0.20550	T	0.142491857881424	0.16487	T	0.466753	0.13720	T	0.033590633	0.03609	0.034614746	0.02560	0.033590633	0.03609	0.034614746	0.02560	-3.191	0.12370	T	.	.	0.165	0.36335	B	.	.	0.324252	0.06985	3.540	0.98104049785295289	0.38294	0.00587	0.02638	N	AEFI	0.033822	0.04083	N	-0.957084215023277	0.09535	0.4516586	-1.12989933217892	0.07134	0.3458757	1.22834868941895E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	-0.874	0.10093	-0.122000	0.10602	-15.955000	0.00333	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1909:0.297:0.5121	2.438	0.04213	.	.	Domain of unknown function DUF4599	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008130	0.000000	0.000000	0.026316	0.000000	0.000000	0.035088	0.000000	0.25	172.31	.	chr9	60916888	.	T	G	172.31	.	AC=2;AF=0.25;AN=8;DP=12;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.75;MQ=23.34;QD=28.72;SOR=1.329	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	15
chr9	61193088	61193088	A	C	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.A1002C:p.E334D,SPATA31A7:NM_015667:exon4:c.A1002C:p.E334D	.	573	946	3	0	0	3	0.00158311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1157379835	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	5.839e-05	0.0025	1.21e-05	0.0003	0.0048	5.839e-05	8.564e-05	0	0.0001	0.0022	2.206e-05	1.439e-05	0.0008	0.0005	0	0	0	0	0	0	0	2.238e-05	0	0.0022	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.05482477	0.05896	T	.	.	.	.	.	.	.	.	.	0.22287660494865427	0.22202	.	.	.	.	.	0.038	0.24860	T	.	.	.	.	.	.	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-5.495	0.41821	T	.	.	0.223	0.45470	B	.	.	0.334939	0.07086	3.659	.	.	.	.	.	.	0.032337	0.03632	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.759000	0.04866	-6.283000	0.01442	0.257000	0.18371	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6832.34	36	chr9	61193088	.	A	C	6832.34	.	AC=2;AF=0.071;AN=28;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.107;MQ=34.21;QD=29.58;SOR=1.367	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	1	0	5
chr9	61194035	61194035	G	T	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.G1949T:p.G650V,SPATA31A7:NM_015667:exon4:c.G1949T:p.G650V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000491242757186	.	0.000399361	0.0001	0	0	0	0	0	0	0.0010	7.68e-05	2	26028	.	4.995e-06	6.276e-06	0	1.005e-05	8.868e-05	2.08e-06	1.34e-06	4.077e-05	2.862e-05	0	0	0	0	0	0	0	0	8.868e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.47672	.	.	.	.	.	.	.	0.24839976	0.42136	T	.	.	.	.	.	.	.	.	.	0.13218726469605552	0.13143	.	.	.	.	.	0.131226	0.46060	T	.	.	.	.	.	.	.	.	.	0.555444	0.19245	T	.	.	.	.	.	.	.	.	-7.24	0.55768	T	.	.	0.188	0.40489	B	.	.	1.925412	0.24457	16.40	.	.	.	.	.	.	0.034471	0.04275	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278000	0.18514	-2.200000	0.04067	0.230000	0.18142	0.001000	0.13787	0.000000	0.08366	0.213000	0.22268	.	.	.	.	.	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	1321.86	37	chr9	61194035	.	G	T	1321.86	.	AC=2;AF=0.059;AN=34;DP=583;ExcessHet=0;FS=0;InbreedingCoeff=0.8477;MLEAC=2;MLEAF=0.059;MQ=35.8;QD=25.42;SOR=1.747	GT:AD:DP:GQ:PL	./.:.:.:.:.	16	1	0	2
chr9	65283490	65283491	GA	-	exonic	FOXD4L5	.	frameshift deletion	FOXD4L5:NM_001126334:exon1:c.887_888del:p.F296Sfs*91	.	482	1011	29	0	0	29	0.0141394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.2313	0.0180	0.1389	0	0.6667	0.1933	0	0.4310	0.0011526	30	26028	rs562882568	0.0058	0.0066	0.0052	0.0064	0.0244	0.0057	0.0056	0.0235	0.0232	0.0007	0.0023	0.0070	2.519e-05	0.0066	0.0065	0.0048	0.0055	0.0244	0.0038	0.0043	0.0036	0.0040	0.0234	0.0035	0.0034	0.0199	0.0186	0.0006	0	0.0045	0.0052	0	0.0058	0.0137	0.0041	0.0038	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017997	0.000000	0.012324	0.006173	0.000000	0.042857	0.011364	0.030000	0.02632	736.29	46	chr9	65283489	.	GGA	G	736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=753;ExcessHet=0;FS=3.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.55;MQRankSum=0.282;QD=6.52;ReadPosRankSum=1.58;SOR=1.112	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1349	18	0	1	0
chr9	65283920	65283920	T	C	exonic	FOXD4L5	.	nonsynonymous SNV	FOXD4L5:NM_001126334:exon1:c.A458G:p.Q153R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.957654729334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.999	0.92359	D	0.003546	0.34793	U	0.000000	0.999923	0.51308	D	2.555	0.74557	M	-3.84	0.95826	D	-3.99	0.73893	D	0.593	0.61256	0.824	0.94708	D	0.897	0.96568	D	9	0.88507456	0.87832	D	0.217255	0.87599	D	0.579	0.83024	0.851	0.95260	0.241078983079	0.23725	0.09100260374457012	0.09033	.	.	0.795709490776	0.81310	T	0.696075	0.91206	D	0.15994	0.70195	D	-0.00803371	0.69813	D	0.995917141437531	0.88308	D	0.925407	0.72589	D	0.67513406	0.76708	0.5306149	0.72879	0.67513406	0.76709	0.5306149	0.72879	-12.388	0.86690	D	.	.	0.855	0.80040	P	.	.	5.246197	0.88079	29.5	0.97220010680230196	0.32896	0.57708	0.30448	D	AEFI	0.362026	0.45143	N	0.128642228579915	0.47803	3.000927	-0.132658408556001	0.34082	1.956573	2.92381116194186E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	.	.	.	7.423000	0.79424	5.785000	0.49830	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	5.994	0.18714	.	.	Fork head domain|Fork head domain|Fork head domain conserved site 2|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	124.33	29	chr9	65283920	.	T	C	124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.676;DP=577;ExcessHet=0;FS=4.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.26;MQRankSum=0.636;QD=5.65;ReadPosRankSum=-1.199;SOR=0.047	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1386	18	0	1	0
chr9	65733019	65733021	ACA	-	exonic	CBWD5	.	nonframeshift deletion	CBWD5:NM_001024916:exon12:c.834_836del:p.Q280del,CBWD5:NM_001363751:exon13:c.921_923del:p.Q309del,CBWD5:NM_001330668:exon14:c.978_980del:p.Q328del,CBWD5:NM_001286835:exon16:c.321_323del:p.Q109del	.	566	955	1	0	0	1	0.000523286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319787884	2.124e-05	5.199e-05	1.773e-05	2.479e-05	0.0015	1.522e-05	1.326e-05	0.0006	0.0004	3e-05	0	0	0	0	0.0015	1.889e-05	3.323e-05	1.161e-05	2.637e-05	4.598e-05	2.578e-05	2.7e-05	5.88e-05	8.16e-06	5.15e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	499.29	40	chr9	65733018	.	CACA	C	499.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=788;ExcessHet=0;FS=14.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.97;MQRankSum=-4.03;QD=3.57;ReadPosRankSum=-3.489;SOR=2.403	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr9	65737251	65737262	GAAGACGAGGTG	-	exonic	FOXD4L4	.	nonframeshift deletion	FOXD4L4:NM_199244:exon1:c.106_117del:p.V39_E42del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	1.026e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	1.313e-05	2.626e-05	1.284e-05	1.344e-05	6.54e-05	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.29	113	chr9	65737250	.	TGAAGACGAGGTG	T	144.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1997;ExcessHet=0;FS=4.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.81;MQRankSum=-0.532;QD=0.82;ReadPosRankSum=-0.414;SOR=1.274	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr9	66917837	66917837	C	T	exonic	ZNF658	.	nonsynonymous SNV	ZNF658:NM_001317916:exon5:c.C271T:p.R91W,ZNF658:NM_033160:exon5:c.C271T:p.R91W	.	813	706	3	0	0	3	0.00212014	.	.	.	2356895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs748752930	0.0012	0.0014	0.0010	0.0015	0.0093	0.0012	0.0012	0.0069	0.0063	0.0008	0.0011	0	0.0002	1.944e-05	0.0093	0.0009	0.0013	0.0070	0.0010	0.0011	0.0009	0.0010	0.0075	0.0008	0.0008	0.0054	0.0047	0.0002	0	0.0014	0	0.0007	0	0.0115	0.0011	0	0.0075	.	.	.	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.014209479	0.00299	T	.	.	.	.	.	.	.	.	.	0.05172900432969586	0.05114	.	.	.	.	.	0.001599	0.01039	T	.	.	.	.	.	.	.	.	.	0.272073	0.04599	T	.	.	.	.	.	.	.	.	-4.287	0.27994	T	.	.	0.159	0.35056	B	.;.;.;.;.	.;.;.;.;.	0.936330	0.13117	9.620	.	.	.	.	.	.	0.047226	0.07929	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.598000	0.00468	-8.726000	0.00923	-1.891000	0.00533	0.000000	0.06391	0.000000	0.08366	0.406000	0.26916	.	.	.	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	166.33	17	chr9	66917837	.	C	T	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=559;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.12;MQRankSum=0.418;QD=10.4;ReadPosRankSum=0.515;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1081	18	0	1	0
chr9	66986995	66986995	T	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3503G:p.K1168R	.	429	1077	14	2	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00429452669895	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs565889169	0.0008	0.0008	0.0005	0.0010	0.0083	0.0007	0.0007	0.0078	0.0076	0	0.0005	0	0	0	0.0039	0.0003	0.0008	0.0083	0.0003	0.0004	0.0003	0.0003	0.0072	0.0002	0.0002	0.0052	0.0045	2.665e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0072	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.07321933	0.11035	T	.	.	.	.	.	.	.	.	.	0.0417573156486076	0.04120	.	.	.	.	.	0.001858	0.01270	T	.	.	.	.	.	.	.	.	.	0.548145	0.18826	T	.	.	.	.	.	.	.	.	-3.137	0.11726	T	.	.	0.086	0.10594	B	.	.	-0.155796	0.03325	0.581	.	.	.	.	.	.	0.010708	0.00081	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.145000	0.10248	-15.955000	0.00333	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	5169.79	37	chr9	66986995	.	T	C	5169.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.594;DP=1328;ExcessHet=0.3672;FS=32.074;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=34.6;MQRankSum=-1.668;QD=9.13;ReadPosRankSum=-0.716;SOR=2.24	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	0	3	0
chr9	66987736	66987736	C	A	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G2762T:p.R921M	.	439	1082	1	0	0	1	0.000461894	.	.	.	3600923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00151916407336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255321210	0.0001	0.0002	8.078e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0010	1.889e-05	9.972e-05	0.0021	6.182e-05	7.23e-05	6.67e-05	5.664e-05	0.0018	3.203e-05	2.401e-05	0.0009	0.0007	0	0	0	0	0	0	0	1.508e-05	0	0.0018	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.25253	.	.	.	.	.	.	.	0.11306688	0.21230	T	.	.	.	.	.	.	.	.	.	0.3482892505535887	0.34742	.	.	.	.	.	0.081065	0.36510	T	.	.	.	.	.	.	.	.	.	0.378362	0.09086	T	.	.	.	.	.	.	.	.	-3.968	0.23323	T	.	.	0.166	0.36554	B	.	.	1.794776	0.22813	15.77	.	.	.	.	.	.	0.033353	0.03938	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562000	0.06041	-20.000000	0.00162	0.212000	0.17994	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1385.33	38	chr9	66987736	.	C	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.767;DP=812;ExcessHet=0;FS=8.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.5;MQRankSum=-0.852;QD=11.64;ReadPosRankSum=-0.231;SOR=0.61	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr9	66988613	66988613	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G1885A:p.E629K	.	677	841	2	2	0	6	0.0035545	.	.	.	2828903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs369062848	0.0006	0.0005	0.0005	0.0007	0.0107	0.0006	0.0005	0.0098	0.0095	0	0.0005	0	0.0107	0	0.0021	0.0001	0.0007	0.0009	0.0002	0.0002	0.0003	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0.0001	0	0.0019	0	0.0085	0.0002	0.0021	0	.	.	.	0.302	0.20228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	0.052081168	0.05187	T	.	.	.	.	.	.	.	.	.	0.10963320216239393	0.10892	.	.	.	.	.	0.001801	0.01223	T	.	.	.	.	.	.	.	.	.	0.539346	0.18229	T	.	.	.	.	.	.	.	.	-4.653	0.32830	T	.	.	0.079	0.07177	B	.	.	-0.520961	0.01801	0.140	.	.	.	.	.	.	0.018617	0.00577	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.283000	0.02904	-20.000000	0.00162	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	994	0.00715	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3514.19	1	chr9	66988613	.	C	T	3514.19	.	AC=2;AF=0.053;AN=38;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=0.8477;MLEAC=2;MLEAF=0.053;MQ=39.29;QD=29.28;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	1	0	0
chr9	66988843	66988843	A	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.T1655G:p.L552R	.	821	700	0	1	0	2	0.00142653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0012591625174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.635e-05	2.473e-05	9.48e-06	4.261e-05	0.0002	1.605e-05	1.312e-05	0.0001	0.0001	0	0	0	0	0	0	4.584e-06	6.425e-05	0.0002	0	2.085e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.35514	.	.	.	.	.	.	.	0.10117969	0.18471	T	.	.	.	.	.	.	.	.	.	0.22791074430706124	0.22706	.	.	.	.	.	0.01046	0.09443	T	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.438	0.57172	T	.	.	0.100	0.17232	B	.	.	0.864381	0.12371	8.907	.	.	.	.	.	.	0.031605	0.03414	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092000	0.14905	-5.921000	0.01552	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	.	.	.	994	0.00715	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	369.61	.	chr9	66988843	.	A	C	369.61	.	AC=2;AF=0.056;AN=36;DP=284;ExcessHet=0;FS=0;InbreedingCoeff=0.9883;MLEAC=2;MLEAF=0.056;MQ=23.73;QD=26.4;SOR=5.421	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,811	17	1	0	1
chr9	67884532	67884532	A	G	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon9:c.A941G:p.H314R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000606444568377	0.0018	0.000399361	0.0010	0.0003	0.0013	0	0.0002	0.0016	0	6.11e-05	0.0003842	10	26028	rs139276025	0.0014	0.0017	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0003	0.0017	3.835e-05	0	0.0001	0	0.0017	0.0016	4.661e-05	0.0011	0.0012	0.0011	0.0011	0.0021	0.0010	0.0009	0.0016	0.0015	0.0002	0	0.0021	0	0	0	0	0.0019	0.0005	0	.	.	.	0.549	0.92824	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.155	0.16028	-1.0320	0.19809	T	0.043	0.18410	T	9	0.011005074	0.00242	T	6.06E-4	0.00274	T	.	.	.	.	0.236619781664	0.23270	0.031188446058017974	0.03067	.	.	0.753826260567	0.75012	T	0.015158	0.12765	T	-0.262057	0.12660	T	-0.614203	0.11645	T	0.00462478967395401	0.00049	T	0.348865	0.07732	T	0.025659533	0.01529	0.050008293	0.07760	0.025659533	0.01529	0.050008293	0.07760	-2.315	0.04638	T	.	.	0.088	0.11654	B	.;.	.;.	1.028366	0.14083	10.65	0.45089399023850046	0.03513	0.00557	0.02543	N	AEFI	0.026943	0.02113	N	-1.20384051821368	0.04943	0.2242267	-1.2896080144421	0.04570	0.2158663	1.09548561086191E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.19	-0.0419	0.13194	1.451000	0.34756	-0.953000	0.06806	0.140000	0.17674	0.052000	0.21487	0.000000	0.08366	0.089000	0.17737	0.737:0.0:0.263:0.0	3.178	0.06183	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000583	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	571.33	38	chr9	67884532	.	A	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.058;DP=688;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.65;MQRankSum=0.286;QD=11.43;ReadPosRankSum=0.301;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	67897631	67897631	T	G	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon13:c.T1225G:p.S409A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0008514207249	.	0.000998403	0	0	.	0	0	0	0	0	0.0001921	5	26028	rs201860412	0.0022	0.0021	0.0022	0.0022	0.0036	0.0021	0.0021	0.0029	0.0026	0.0012	0.0036	6.171e-05	0	0.0001	0	0.0026	0.0026	0.0003	0.0020	0.0024	0.0021	0.0019	0.0035	0.0018	0.0017	0.0025	0.0022	0.0016	0	0.0035	0	0	0	0	0.0026	0	0	.	.	.	0.389	0.15554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.06691009	0.09246	T	.	.	.	.	.	.	.	.	.	0.011010368955483286	0.01062	.	.	.	.	.	3.77E-4	0.00113	T	.	.	.	.	.	.	.	.	.	0.164184	0.01497	T	.	.	.	.	.	.	.	.	-3.369	0.14642	T	.	.	0.049	0.00117	B	.	.	-0.549633	0.01715	0.126	.	.	.	.	.	.	0.009866	0.00062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026000	0.13490	.	.	0.126000	0.17648	0.001000	0.13787	.	.	0.184000	0.21420	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	508.13	13	chr9	67897631	.	T	G	508.13	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.586;DP=233;ExcessHet=0;FS=2.732;InbreedingCoeff=0.1675;MLEAC=1;MLEAF=0.028;MQ=30.71;MQRankSum=0.609;QD=21.17;ReadPosRankSum=2.27;SOR=1.376	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,183	17	0	1	1
chr9	67900907	67900907	C	T	exonic	ANKRD20A1	.	stopgain	ANKRD20A1:NM_032250:exon15:c.C1912T:p.R638X	.	566	897	59	0	0	59	0.0318403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00439297	0.0065	0.0004	0.0028	0	0	0.0042	0.0023	0.0273	0.00146	38	26028	rs143310784	0.0043	0.0045	0.0034	0.0051	0.0280	0.0042	0.0041	0.0271	0.0267	0.0005	0.0020	0.0134	7.576e-05	3.747e-05	0.0213	0.0027	0.0053	0.0280	0.0027	0.0030	0.0022	0.0031	0.0249	0.0024	0.0024	0.0212	0.0198	0.0004	0	0.0017	0.0110	0	0	0.0034	0.0028	0.0058	0.0249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.432614	0.68750	25.3	.	.	.	.	.	.	0.119214	0.23277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754000	0.26056	-0.962000	0.06776	-3.177000	0.00113	0.992000	0.37556	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3712.81	33	chr9	67900907	.	C	T	3712.81	.	AC=2;AF=0.053;AN=38;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=35.51;QD=28.13;SOR=1.078	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,112,1650	18	1	0	0
chr9	67901272	67901272	G	C	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon15:c.G2277C:p.E759D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000460842001475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380982145	0.0004	0.0003	0.0002	0.0006	0.0042	0.0003	0.0003	0.0037	0.0035	0	0	0.0007	0	0	0.0012	4.824e-05	0.0001	0.0042	9.076e-05	8.6e-05	8.179e-05	0.0001	0.0020	3.853e-05	2.635e-05	0.0005	0.0003	0	0	0	0.0006	0	0	0	6.278e-05	0	0.0020	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.070409596	0.10239	T	.	.	.	.	.	.	.	.	.	0.0012309652286061953	0.00114	.	.	.	.	.	0.014377	0.12250	T	.	.	.	.	.	.	.	.	.	0.463654	0.13513	T	.	.	.	.	.	.	.	.	-3.78	0.20506	T	.	.	0.170	0.37312	B	.	.	0.614680	0.09830	6.595	.	.	.	.	.	.	0.084743	0.17177	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584000	0.23565	0.668000	0.20568	-0.785000	0.03297	0.430000	0.26409	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	77.42	7	chr9	67901272	.	G	C	77.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=202;ExcessHet=0;FS=0;InbreedingCoeff=-0.033;MLEAC=1;MLEAF=0.026;MQ=23.77;MQRankSum=0.566;QD=9.68;ReadPosRankSum=1.42;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:12:0,12,180	18	0	1	0
chr9	68298990	68298992	ACA	-	exonic	CBWD3	.	nonframeshift deletion	CBWD3:NM_001378117:exon11:c.765_767del:p.Q257del,CBWD3:NM_001378116:exon12:c.831_833del:p.Q279del,CBWD3:NM_001291821:exon13:c.918_920del:p.Q308del,CBWD3:NM_001378113:exon13:c.909_911del:p.Q305del,CBWD3:NM_001378114:exon13:c.891_893del:p.Q299del,CBWD3:NM_001378115:exon13:c.891_893del:p.Q299del,CBWD3:NM_201453:exon14:c.978_980del:p.Q328del	.	589	932	1	0	0	1	0.000536193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.066e-06	2.121e-05	0	4.154e-06	1.177e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.177e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	855.29	34	chr9	68298989	.	CACA	C	855.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=724;ExcessHet=0;FS=16.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.8;MQRankSum=-5.145;QD=8.55;ReadPosRankSum=1.81;SOR=0.689	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1624.33	42	chr9	68780918	.	G	A	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=805;ExcessHet=0;FS=3.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.69;SOR=0.443	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	18	0	1	0
chr9	69234470	69234470	G	A	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon12:c.G1715A:p.R572Q,TJP2:NM_001170416:exon12:c.G1796A:p.R599Q,TJP2:NM_001369872:exon12:c.G1703A:p.R568Q,TJP2:NM_001369873:exon12:c.G1703A:p.R568Q,TJP2:NM_001369874:exon12:c.G1715A:p.R572Q,TJP2:NM_001369875:exon12:c.G1715A:p.R572Q,TJP2:NM_004817:exon12:c.G1703A:p.R568Q,TJP2:NM_201629:exon12:c.G1703A:p.R568Q,TJP2:NM_001170414:exon13:c.G1634A:p.R545Q,TJP2:NM_001369870:exon13:c.G1628A:p.R543Q,TJP2:NM_001369871:exon14:c.G1634A:p.R545Q	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0665261090577	.	.	8.24e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs769333755	1.096e-05	1.094e-05	2.726e-06	1.928e-05	0.0003	6.49e-06	5.25e-06	6.098e-05	3.288e-05	5.993e-05	0	0	0	0	0.0003	2.7e-06	1.658e-05	9.324e-05	6.712e-06	6.607e-06	0	1.38e-05	2.491e-05	0	0	.	.	2.491e-05	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.36	0.34107	L	0.7	0.51474	T	-3.4	0.67824	D	0.89	0.89800	-0.5527	0.66684	T	0.283	0.65508	T	10	0.80096185	0.79499	D	0.066526	0.69900	D	0.526	0.79947	0.647	0.78436	0.784773488873	0.78278	0.49222389619856927	0.49143	0.788710189345	0.65656	0.776885032654	0.78459	T	0.325571	0.69628	T	0.175917	0.71666	D	0.197063	0.82967	D	0.857737004756927	0.50846	D	0.978002	0.92190	D	0.7549819	0.81158	0.6852334	0.81493	0.7549819	0.81160	0.6852334	0.81494	-13.196	0.90153	D	0.6698388790357839	0.74462	0.975	0.91553	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.964192	0.82109	27.7	0.9996083044988231	0.99997	0.99638	0.98230	D	AEFBI	0.898729	0.84232	D	0.801280965968086	0.86185	8.805334	0.781883680253687	0.88507	9.607841	0.999999999997794	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	9.803000	0.98248	11.765000	0.95720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.573000	0.30723	0.0:0.0:1.0:0.0	19.655	0.95833	988	0.01987	.;.;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	349.33	36	chr9	69234470	.	G	A	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=768;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.553;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1169	18	0	1	0
chr9	69240073	69240073	C	T	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon17:c.C2504T:p.T835M,TJP2:NM_001170416:exon17:c.C2585T:p.T862M,TJP2:NM_001369872:exon17:c.C2492T:p.T831M,TJP2:NM_001369873:exon17:c.C2492T:p.T831M,TJP2:NM_001369874:exon17:c.C2504T:p.T835M,TJP2:NM_001369875:exon17:c.C2504T:p.T835M,TJP2:NM_004817:exon17:c.C2492T:p.T831M,TJP2:NM_201629:exon17:c.C2492T:p.T831M,TJP2:NM_001170414:exon18:c.C2423T:p.T808M,TJP2:NM_001369870:exon18:c.C2417T:p.T806M,TJP2:NM_001369871:exon19:c.C2423T:p.T808M	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0125202826174	.	.	2.478e-05	0	0	0	0	3.004e-05	0	6.081e-05	1.94e-05	3	154602	rs778708131	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.348e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.017	0.51248	D	0.053	0.49663	T	0.999	0.77913	D	0.893	0.63340	P	0.723163	0.09917	N	0.892392	1	0.08975	N	1.845	0.48678	L	2.26	0.17596	T	-2.08	0.48020	N	0.205	0.30687	-1.0093	0.27136	T	0.103	0.38044	T	10	0.15801078	0.29724	T	0.01252	0.31165	T	0.125	0.34456	.	.	0.688906850009	0.68623	0.30044987490805425	0.29957	0.48447268662	0.47353	0.237017646432	0.02528	T	0.162208	0.50677	T	-0.275717	0.11127	T	-0.536971	0.18596	T	0.90440958738327	0.55786	D	0.973953	0.90669	D	0.04409277	0.06987	0.06432287	0.12875	0.04409277	0.06987	0.06432287	0.12874	-7.137	0.55610	T	0.2063529429695365	0.27553	0.079	0.08754	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.665939	0.52099	23.2	0.99848405610496993	0.92838	0.24899	0.22535	N	AEFBI	0.160539	0.28649	N	0.033450716303192	0.43383	2.632219	-0.0942789059526402	0.35627	2.063396	0.923503414612833	0.26746	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.04	0.67293	2.454000	0.44636	5.966000	0.51911	0.599000	0.40250	0.018000	0.19461	0.810000	0.27029	0.787000	0.37188	0.0:0.9329:0.0:0.0671	15.234	0.73106	988	0.01987	.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1157.33	35	chr9	69240073	.	C	T	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.867;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.407;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	18	0	1	0
chr9	69325415	69325415	C	T	exonic	FAM189A2	.	nonsynonymous SNV	FAM189A2:NM_001347995:exon1:c.C106T:p.P36S	.	947	572	1	2	0	5	0.00435161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs865991386	0.0001	0.0001	0.0001	0.0002	0.0117	0.0001	0.0001	0.0079	0.0067	0.0004	0	0	0	0	0.0117	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0012	0.0010	7.309e-05	0	0.0017	0	0	0	0	0.0003	0.0020	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998123	0.22338	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1070337	0.19863	T	.	.	.	.	.	.	.	.	.	0.38841939454104624	0.38756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374163	0.08891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11124	B	.	.	2.083193	0.26494	17.14	0.95428553047934306	0.26917	0.01638	0.05273	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999958536621728	0.48110	0.11394	0.02926	0	0.085267	0.02369	0	0.063335	0.01812	2	0.166187	0.04126	0	0.0885804	0.20043	2.62	1.66	0.23081	0.264000	0.18264	1.179000	0.24681	0.161000	0.17719	0.078000	0.22289	1.000000	0.68203	0.036000	0.13842	0.0:0.7904:0.2096:0.0	10.013	0.41166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	295.03	10	chr9	69325415	.	C	T	295.03	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.428;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0565;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=-0.68;SOR=0.593	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,470	17	0	1	1
chr9	71698017	71698017	T	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon19:c.A3376G:p.T1126A,CEMIP2:NM_001349784:exon20:c.A1651G:p.T551A,CEMIP2:NM_013390:exon20:c.A3565G:p.T1189A	.	424	1086	11	1	0	13	0.00594966	.	.	.	2427603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00380662956895	0.0005	0.000798722	0.0009	9.61e-05	0.0009	0	0.0005	0.0012	0.0022	0.0010	0.0008732	135	154602	rs201694886	0.0006	0.0006	0.0006	0.0007	0.0080	0.0006	0.0006	0.0062	0.0055	0.0003	0.0005	0.0031	0	0.0003	0.0080	0.0005	0.0012	0.0013	0.0007	0.0007	0.0006	0.0007	0.0010	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0017	0	0	0.0238	0.0010	0.0009	0.0004	0.524	0.25664	T	0.536	0.24987	T	0.001	0.09854	B	0.003	0.14300	B	0.118133	0.19126	N	0.580439	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.59	0.40850	N	0.173	0.23884	-1.0468	0.15303	T	0.062	0.25672	T	10	0.006872356	0.00156	T	0.003807	0.08899	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.578841830112091	0.57813	0.168028649199	0.18950	0.297638714314	0.10050	T	0.028113	0.20438	T	-0.556924	0.00265	T	-0.613293	0.11718	T	0.0203770377283535	0.00737	T	0.59944	0.32403	T	0.029134512	0.02360	0.031483978	0.01744	0.029134512	0.02359	0.031483978	0.01744	-3.313	0.13906	T	.	.	0.065	0.04517	B	.;.;.	.;.;.	1.761415	0.22403	15.61	0.89515854337299094	0.18863	0.86564	0.45870	D	AEFDGBI	0.133103	0.25265	N	-0.733214468905173	0.15093	0.7576322	-0.661355988984465	0.17930	0.955628	0.983492907210702	0.30569	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-1.14	0.09241	2.364000	0.43840	1.331000	0.25669	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1281:0.1347:0.2266:0.5106	1.857	0.02988	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.009511	0.011696	0.000000	0.008621	0.000000	0.003788	0.02632	362.33	36	chr9	71698017	.	T	C	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.359;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr9	71730190	71730190	G	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon8:c.C1648G:p.Q550E,CEMIP2:NM_013390:exon9:c.C1837G:p.Q613E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0153888466249	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs150613091	0.0001	0.0001	0.0001	0.0001	2.987e-05	9.091e-05	8.598e-05	1.913e-05	1.661e-05	2.987e-05	0	0.0041	0	0	0	2.698e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	7.35e-05	0.0001	0.0001	2.847e-05	1.858e-05	0	0	0	0.0063	0	0	0	7.35e-05	0.0005	0	0.398	0.12469	T	0.389	0.15554	T	0.004	0.37852	B	0.003	0.34417	B	0.000000	0.84330	D	0.051182	0.999983	0.54805	D	.	.	.	0.82	0.48142	T	-1.23	0.31170	N	0.69	0.69562	-1.0480	0.14960	T	0.101	0.37543	T	10	0.020644516	0.00479	T	0.015389	0.36094	T	0.155	0.40530	.	.	0.390374949789	0.38653	0.9501706410193452	0.95000	0.19039271064	0.21358	0.683009266853	0.64701	T	0.037599	0.24533	T	0.0102695	0.53062	T	-0.207539	0.53930	T	0.22696017183281	0.21806	T	0.90001	0.69499	D	0.22313094	0.44927	0.25013664	0.50598	0.22313094	0.44927	0.25013664	0.50598	-3.695	0.31995	T	.	.	0.076	0.08899	B	.;.	.;.	3.937275	0.57590	23.9	0.9897281559804102	0.49560	0.99233	0.93193	D	AEFGBI	0.881921	0.80965	D	0.159851458524132	0.49280	3.130103	0.355965093759339	0.58868	4.060158	0.999999999999999	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.449000	0.96765	11.839000	0.97761	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.670	0.95902	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1021.33	33	chr9	71730190	.	G	C	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=774;ExcessHet=0;FS=2.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.34;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	18	0	1	0
chr9	72223211	72223211	G	A	exonic	GDA	.	nonsynonymous SNV	GDA:NM_001242505:exon7:c.G698A:p.R233H,GDA:NM_001242507:exon7:c.G476A:p.R159H,GDA:NM_001351571:exon7:c.G572A:p.R191H,GDA:NM_001351572:exon7:c.G698A:p.R233H,GDA:NM_001351573:exon7:c.G698A:p.R233H,GDA:NM_004293:exon7:c.G698A:p.R233H,GDA:NM_001242506:exon8:c.G476A:p.R159H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.13659809229	7.7e-05	0.000399361	0.0002	0.0005	0	0.0024	0	1.5e-05	0	0	0.0001876	29	154602	rs142139311	5.362e-05	5.678e-05	5.612e-05	5.11e-05	0.0010	4.365e-05	4.037e-05	0.0007	0.0007	0.0004	0	0	0.0010	1.873e-05	0.0005	1.447e-05	1.663e-05	5.813e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.661e-05	7.253e-05	0.0004	0.0002	0.0003	0	0.0001	0	0.0010	0	0	0	0	0	0.996	0.06502	T	0.56	0.09113	T	0.0	0.02946	B	0.0	0.01387	B	0.075150	0.21241	N	0.560216	1	0.81001	D	-1.9	0.00240	N	-2.65	0.90210	D	1.53	0.01246	N	0.107	0.14338	-0.7070	0.60100	T	0.278	0.65017	T	10	0.0110397935	0.00243	T	0.136598	0.81909	D	0.247	0.55478	.	.	0.647727050542	0.64480	0.5594619221670496	0.55873	0.4403143847	0.44044	0.214681878686	0.01025	T	0.163328	0.50834	T	-0.367828	0.03705	T	-0.32015	0.42559	T	0.0123815296952056	0.00202	T	0.811219	0.46271	T	0.16433354	0.36633	0.07996564	0.18048	0.16433354	0.36633	0.07996564	0.18047	-1.276	0.01867	T	.	.	0.075	0.05360	B	.;.;.;.	.;.;.;.	0.569357	0.09378	6.159	0.51785298073599306	0.04626	0.00966	0.03700	N	AEFBI	0.158168	0.28378	N	-1.38114702951648	0.02815	0.1248416	-1.22197995147385	0.05558	0.2651682	0.00565563497271055	0.11005	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-1.51	0.08207	0.050000	0.14004	0.036000	0.13800	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.739:0.0:0.261:0.0	10.675	0.44979	783	0.47268	.;.;Amidohydrolase-related;Amidohydrolase-related	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1377.33	35	chr9	72223211	.	G	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.359;SOR=0.746	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr9	72916978	72916978	C	T	exonic	ALDH1A1	.	nonsynonymous SNV	ALDH1A1:NM_000689:exon9:c.G977A:p.R326Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.077678340129	.	0.000199681	2.473e-05	9.614e-05	0	0.0001	0	0	0	6.061e-05	2.59e-05	4	154602	rs575056227	1.574e-05	1.642e-05	1.906e-05	1.238e-05	8.968e-05	1.048e-05	8.75e-06	2.986e-05	1.805e-05	8.968e-05	8.951e-05	0	5.042e-05	0	0	1.079e-05	1.657e-05	1.16e-05	3.943e-05	3.938e-05	1.286e-05	6.721e-05	0.0002	1.716e-05	1.13e-05	7.99e-06	2.99e-06	4.818e-05	0	6.544e-05	0	0.0002	0	0	1.471e-05	0	0.0002	0.023	0.48186	D	0.132	0.34477	T	0.997	0.70673	D	0.672	0.53180	P	0.000001	0.62929	D	0.000000	0.985932	0.81001	D	1.01	0.25309	L	-1.04	0.76561	T	-2.92	0.61129	D	0.242	0.27316	0.059	0.83414	D	0.496	0.80932	T	10	0.362329	0.52831	T	0.077678	0.72828	D	0.445	0.74727	0.514	0.61307	0.750255037199	0.74799	0.6155730211443493	0.61489	0.508620062374	0.49010	0.352858901024	0.18341	T	0.704841	0.91532	D	-0.120199	0.33090	T	-0.228906	0.51878	T	0.772418022155762	0.44584	D	0.906909	0.67118	D	0.53129935	0.68904	0.25706464	0.51416	0.53129935	0.68905	0.25706464	0.51415	-7.686	0.58910	D	.	.	0.184	0.39949	B	.	.	4.045511	0.59928	24.2	0.99947627556214846	0.99923	0.39032	0.26122	N	AEFBCI	0.626388	0.60923	D	0.20647134810738	0.51512	3.33186	0.124960598529543	0.45830	2.839207	0.999999696449347	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.96	4.11	0.47350	1.477000	0.35039	4.827000	0.45167	0.599000	0.40250	0.003000	0.16062	0.652000	0.25970	0.724000	0.34901	0.0:0.8696:0.0:0.1304	13.374	0.60172	390	0.83257	Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	709.33	34	chr9	72916978	.	C	T	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.471;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr9	74642567	74642567	T	C	exonic	RORB	.	nonsynonymous SNV	RORB:NM_001365023:exon4:c.T422C:p.L141P,RORB:NM_006914:exon4:c.T389C:p.L130P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.207348050639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.064	0.44905	T	0.997	0.70673	D	0.929	0.66367	D	0.001150	0.40056	N	0.237415	1	0.81001	D	2.41	0.69639	M	-3.44	0.94469	D	-2.48	0.54059	N	0.864	0.86085	0.857	0.95110	D	0.882	0.96075	D	10	0.77409935	0.77317	D	0.207348	0.87088	D	0.712	0.89741	0.423	0.46693	0.530804112256	0.52728	0.776937128039195	0.77643	0.356500671302	0.37390	0.660247206688	0.61445	T	0.23511	0.60229	T	0.433242	0.91694	D	0.384546	0.91591	D	0.957637310028076	0.65061	D	0.915608	0.69895	D	0.5355556	0.69147	0.55278313	0.74139	0.5355556	0.69148	0.55278313	0.74139	-4.617	0.32646	T	.	.	0.236	0.46994	B	.;.	.;.	3.979015	0.58476	24.0	0.99777231393710897	0.86433	0.99670	0.98521	D	AEFBI	0.964066	0.98612	D	0.556618470049871	0.70485	5.508557	0.59939263151389	0.74895	6.215781	0.999998107639435	0.74766	0.538911	0.22237	0	0.563428	0.19063	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.479000	0.80115	5.091000	0.47354	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.87	0.78889	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2717.33	33	chr9	74642567	.	T	C	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.028;DP=908;ExcessHet=0;FS=2.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.809;SOR=0.869	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	74747900	74747900	A	G	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon31:c.T5057C:p.I1686T,TRPM6:NM_001177311:exon31:c.T5057C:p.I1686T,TRPM6:NM_017662:exon31:c.T5072C:p.I1691T	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0231058990097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	1.364e-06	2.756e-06	2.528e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.25873	T	0.562	0.09083	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	0.77	0.49642	T	0.72	0.02099	N	0.042	0.01498	-1.1027	0.03779	T	0.045	0.19397	T	9	0.025411487	0.00736	T	0.023106	0.46051	T	0.034	0.08419	0.2	0.11384	0.043077524339	0.03247	0.18401752744216007	0.18320	0.312276279515	0.33530	0.235256046057	0.02379	T	0.105474	0.41598	T	-0.325454	0.06461	T	-0.705268	0.05542	T	0.0321650489754837	0.02332	T	0.142786	0.01162	T	0.035530113	0.04199	0.05522946	0.09647	0.035530113	0.04199	0.05522946	0.09646	-3.179	0.12226	T	.	.	0.050	0.00168	B	.;.;.	.;.;.	0.529861	0.08986	5.767	0.70621821584927424	0.09356	0.09335	0.15112	N	AEFI	0.134100	0.25399	N	-1.02233836326027	0.08141	0.3807035	-0.891123775876019	0.12304	0.6321162	0.0742376348595993	0.15659	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	-0.879	0.10076	-0.297000	0.08312	-0.261000	0.10426	-0.163000	0.11536	0.023000	0.19925	0.344000	0.24438	0.995000	0.73285	0.129:0.2841:0.0:0.5869	4.765	0.12500	844	0.36711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	317.33	37	chr9	74747900	.	A	G	317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.252;DP=663;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=0.962;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	18	0	1	0
chr9	74763001	74763001	C	T	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon26:c.G3655A:p.V1219I,TRPM6:NM_001177311:exon26:c.G3655A:p.V1219I,TRPM6:NM_017662:exon26:c.G3670A:p.V1224I	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0042378867831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436505710	4.79e-06	4.788e-06	1.362e-06	8.255e-06	2.52e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.52e-05	0	0	4.498e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22573	T	0.362	0.16964	T	0.021	0.21875	B	0.022	0.22546	B	0.000710	0.42254	N	0.242007	0.652305	0.81001	D	2.47	0.71715	M	2.64	0.12780	T	-0.44	0.14588	N	0.106	0.09066	-1.0761	0.08124	T	0.030	0.12760	T	10	0.060406834	0.07415	T	0.004238	0.10247	T	0.018	0.03083	0.305	0.27485	0.258436476835	0.25460	0.1808474077666376	0.18003	0.214159838503	0.23951	0.370404481888	0.20889	T	0.159152	0.50247	T	-0.374788	0.03358	T	-0.675504	0.07260	T	0.225833043456078	0.21751	T	0.651635	0.26249	T	0.04824507	0.08376	0.058843073	0.10942	0.04824507	0.08376	0.058843073	0.10941	-6.067	0.46836	T	0.22870500863058205	0.30932	0.111	0.22897	B	.;.;.	.;.;.	2.439922	0.31399	18.73	0.98217913846853844	0.39272	0.71005	0.34828	D	AEFHCI	0.210103	0.33603	N	-0.18577940370195	0.33726	1.916698	-0.0293087114949187	0.38397	2.261634	0.997690078344167	0.35915	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.94	4.11	0.47350	0.763000	0.26183	1.903000	0.29595	0.599000	0.40250	0.236000	0.24706	0.979000	0.30280	0.993000	0.69303	0.0:0.7944:0.0:0.2056	10.010	0.41151	795	0.45444	.;.;TRPM, tetramerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7959.33	666	chr9	74763001	.	C	T	7959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=1468;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.365;SOR=0.691	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	18	0	1	0
chr9	74842233	74842233	G	A	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon4:c.C248T:p.T83M,TRPM6:NM_001177311:exon4:c.C248T:p.T83M,TRPM6:NM_017662:exon4:c.C263T:p.T88M	Hypomagnesemia 1, intestinal, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	319761	not_provided|Intestinal_hypomagnesemia_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0346019601583	.	0.000599042	0.0002	0.0002	8.637e-05	0.0001	0	1.498e-05	0	0.0010	0.0001617	25	154602	rs191344898	0.0001	0.0001	6.806e-05	0.0002	0.0014	0.0001	9.567e-05	0.0012	0.0011	0.0001	0.0001	3.826e-05	0.0001	0	0.0009	2.068e-05	9.934e-05	0.0014	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0007	0	0	0	0	4.413e-05	0	0.0012	0.165	0.28395	T	0.159	0.31527	T	0.005	0.26641	B	0.017	0.27321	B	0.017458	0.27721	N	0.430897	1	0.08975	N	1.09	0.27330	L	0.44	0.64630	T	-0.02	0.19720	N	0.168	0.18376	-1.0726	0.08851	T	0.085	0.33269	T	10	0.0072985888	0.00166	T	0.034602	0.55783	D	0.045	0.12272	.	.	0.082315109003	0.07666	0.22574980735011338	0.22489	0.259585898146	0.28516	0.205405071378	0.00631	T	0.213719	0.57511	T	-0.466675	0.00892	T	-0.488675	0.23531	T	0.00723972776904702	0.00083	T	0.727127	0.34152	T	0.019847149	0.00525	0.032687	0.02043	0.019847149	0.00525	0.032687	0.02043	-7.63	0.58520	D	0.14878849683184153	0.17351	0.072	0.04316	B	.;.;.;.	.;.;.;.	0.645543	0.10142	6.884	0.58459829034828004	0.05998	0.06677	0.12696	N	AEFI	0.106291	0.21211	N	-1.63975301187761	0.01079	0.04682587	-1.65975328644549	0.01326	0.0598512	9.83698233706978E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	-4.38	0.03371	0.102000	0.15108	-0.249000	0.10523	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.591000	0.31164	0.3046:0.0777:0.3004:0.3173	1.644	0.02592	648	0.63242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1337.33	41	chr9	74842233	.	G	A	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=863;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.092;SOR=0.569	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr9	76175042	76175042	C	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon14:c.C1813T:p.P605S,PCSK5:NM_001372043:exon14:c.C1813T:p.P605S,PCSK5:NM_006200:exon14:c.C1813T:p.P605S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0149198027941	.	.	8.251e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs752940234	1.916e-05	1.915e-05	1.634e-05	2.2e-05	0.0003	1.328e-05	1.144e-05	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	1.889e-05	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.47745	T	0.209	0.26798	T	0.128	0.27003	B	0.065	0.27321	B	0.012516	0.29149	N	0.390390	0.999929	0.51308	D	1.52	0.38360	L	0.84	0.68181	T	-2.78	0.67359	D	0.441	0.63713	-0.8680	0.50679	T	0.210	0.56959	T	10	0.2866583	0.46248	T	0.01492	0.35345	T	0.196	0.47777	0.238	0.16912	0.581850371773	0.57856	0.2988515260220359	0.29798	2.03905293338	0.94204	0.732979893684	0.71942	T	0.279671	0.65235	T	0.056754	0.59204	T	-0.0556233	0.66636	D	0.808001220226288	0.46906	D	0.860114	0.56114	D	0.14289562	0.32866	0.16032708	0.37347	0.14289562	0.32866	0.16032708	0.37346	-5.247	0.45161	T	.	.	0.196	0.41798	B	.;.;.;.	.;.;.;.	3.679637	0.52371	23.2	0.99803462296552303	0.88817	0.99029	0.90187	D	AEFI	0.592761	0.58835	D	0.0167753429501407	0.42618	2.571285	0.232164127726741	0.51640	3.344862	0.999999227090197	0.74766	0.751926	0.98777	0	0.541168	0.11318	0	0.639134	0.45391	0	0.755437	0.99637	0	.	.	5.74	5.74	0.90070	4.850000	0.62587	7.594000	0.61341	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.933	0.97125	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2266.33	34	chr9	76175042	.	C	T	2266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.282;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.797;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1232	18	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H,PCSK5:NM_001372043:exon19:c.T2464C:p.Y822H,PCSK5:NM_006200:exon19:c.T2464C:p.Y822H	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.002717	0.014620	0.000000	0.008621	0.003049	0.022727	0.05263	1242.83	33	chr9	76189177	.	T	C	1242.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.938;DP=700;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.24;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	17	0	2	0
chr9	76358758	76358758	G	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon37:c.G5419T:p.V1807L,PCSK5:NM_001372043:exon38:c.G5500T:p.V1834L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0256747591054	.	.	4.344e-05	0	0	0	0	4.769e-05	0	0.0001	3.23e-05	5	154602	rs763069943	2.396e-05	2.394e-05	1.771e-05	3.028e-05	0.0003	1.74e-05	1.54e-05	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	1.799e-05	6.627e-05	0.0001	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.235	0.20456	T	0.27	0.22359	T	.	.	.	.	.	.	0.307230	0.14496	N	0.674056	0.999844	0.49770	D	1.825	0.47900	L	0.85	0.47130	T	-1.05	0.28497	N	0.462	0.49874	-0.9066	0.47262	T	0.202	0.55863	T	8	0.1621905	0.30403	T	0.025675	0.48637	D	0.057	0.16321	0.223	0.14665	0.64127314462	0.63831	0.43384209134861473	0.43301	0.0839454979105	0.09469	0.390689402819	0.23767	T	0.067286	0.33163	T	-0.294223	0.09216	T	-0.400728	0.33299	T	0.126358613371849	0.15042	T	0.706729	0.32527	T	0.17460158	0.38273	0.15650234	0.36637	0.17460158	0.38272	0.15650234	0.36637	-4.267	0.27712	T	.	.	0.231	0.59466	B	.;.	.;.	1.881234	0.23898	16.19	0.98834781806462346	0.47018	0.95042	0.63226	D	AEFBCI	0.653491	0.62650	D	0.208524651563578	0.51610	3.341026	0.252787008110866	0.52807	3.453187	0.999999444616475	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	3.95	0.44952	2.062000	0.41039	5.083000	0.47284	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1235:0.0:0.8765:0.0	12.386	0.54665	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2241.33	33	chr9	76358758	.	G	T	2241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=841;ExcessHet=0;FS=6.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.351;SOR=0.935	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	76709330	76709330	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G2944A:p.E982K,PRUNE2:NM_001308048:exon8:c.G2944A:p.E982K,PRUNE2:NM_015225:exon8:c.G2944A:p.E982K	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	.	0.00459265	0.0020	0.0002	8.642e-05	0.0046	0.0036	0.0002	0.0033	0.0092	0.0017852	276	154602	rs118189322	0.0010	0.0010	0.0008	0.0012	0.0114	0.0010	0.0010	0.0106	0.0102	0.0002	8.944e-05	0	0.0114	0.0024	0.0005	8.634e-05	0.0015	0.0082	0.0010	0.0010	0.0007	0.0012	0.0102	0.0008	0.0008	0.0079	0.0071	0.0002	0	0	0	0.0087	0.0029	0	0.0002	0.0009	0.0102	0.001	0.78490	D	0.115	0.37173	T	0.997	0.70673	D	0.557	0.49454	P	0.002971	0.35639	N	0.198349	0.99878	0.21910	N	2.19	0.61577	M	0.35	0.58323	T	-1.61	0.38734	N	0.299	0.33796	-0.9324	0.43785	T	0.146	0.47092	T	10	0.00658679	0.00149	T	.	.	.	0.208	0.49714	.	.	0.643868762646	0.64092	0.2689516218877152	0.26808	0.411892521782	0.41935	0.396815121174	0.24626	T	0.08532	0.44288	T	-0.352243	0.04587	T	-0.272635	0.47552	T	0.0335741014059899	0.02566	T	0.89801	0.64352	D	0.17824136	0.38833	0.14963341	0.35322	0.17824136	0.38833	0.14963341	0.35321	-3.772	0.20387	T	.	.	0.125	0.26482	B	.;.;.	.;.;.	3.119155	0.42106	21.5	0.99839003265002135	0.91972	0.70611	0.34662	D	AEFDBHCIJ	0.288087	0.40007	N	0.0614622174832879	0.44671	2.736955	0.0973754938735817	0.44417	2.723821	0.999998186097803	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	3.855000	0.55666	4.036000	0.41382	0.599000	0.40250	0.866000	0.30720	0.999000	0.35428	0.014000	0.10232	0.0:0.9302:0.0:0.0698	13.733	0.62284	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3765.33	106	chr9	76709330	.	C	T	3765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=2382;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.453;SOR=0.538	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	18	0	1	0
chr9	77283429	77283429	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018038:exon30:c.A3193G:p.I1065V,VPS13A:NM_015186:exon30:c.A3193G:p.I1065V,VPS13A:NM_033305:exon30:c.A3193G:p.I1065V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	902388	Inborn_genetic_diseases|not_provided|Chorea-acanthocytosis	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0138119321172	0.0002	0.000199681	0.0002	0.0003	0	0	0	0.0001	0.0011	0.0007	0.0001876	29	154602	rs143067406	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0008	3.002e-05	0	0	0	0	0	0.0003	0.0003	0.0010	0.0001	0.0001	0.0001	0.0001	0.0012	7.575e-05	6.28e-05	0.0005	0.0004	7.217e-05	0	6.542e-05	0	0	0	0	0.0001	0	0.0012	0.788	0.04548	T	0.674	0.18125	T	0.907	0.67487	P	0.386	0.76457	B	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	0.885	0.21608	L	1.12	0.40469	T	-0.19	0.10308	N	0.292	0.35514	-0.9404	0.42552	T	0.163	0.49914	T	10	0.053472877	0.05545	T	0.013812	0.33491	T	0.088	0.25558	.	.	0.510054698054	0.50647	0.2241731340723403	0.22332	0.31135291084	0.33438	0.511957108974	0.40496	T	0.167845	0.51462	T	-0.397206	0.02415	T	-0.406714	0.32604	T	0.0955825315845942	0.11864	T	0.90121	0.65680	D	0.118028656	0.27814	0.1332132	0.31948	0.118028656	0.27814	0.1332132	0.31948	-5.354	0.40474	T	.	.	0.151	0.33412	B	.;.;.;.;.;.	.;.;.;.;.;.	4.260994	0.64760	24.7	0.97004974942853761	0.31961	0.98573	0.84247	D	AEFGBI	0.878562	0.80391	D	0.453747219397179	0.64417	4.695664	0.547606844053815	0.71228	5.623378	0.999990648458084	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.74	5.74	0.90070	8.014000	0.88267	9.364000	0.80397	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.038	0.80445	770	0.49152	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1301.33	33	chr9	77283429	.	A	G	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.316;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr9	77293357	77293357	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon31:c.G3239A:p.G1080E,VPS13A:NM_001018038:exon32:c.G3356A:p.G1119E,VPS13A:NM_015186:exon32:c.G3356A:p.G1119E,VPS13A:NM_033305:exon32:c.G3356A:p.G1119E	Choreoacanthocytosis, Autosomal recessive	28	1478	13	3	0	19	0.00638655	.	.	.	577133	Chorea-acanthocytosis|not_provided|not_specified	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	0.0497815694852	0.0030	0.000998403	0.0030	0.0004	0.0017	0	0.0002	0.0048	0.0022	0.0013	0.0027943	432	154602	rs144358567	0.0025	0.0026	0.0025	0.0026	0.0096	0.0025	0.0025	0.0076	0.0069	0.0007	0.0024	0.0236	0	0.0001	0.0096	0.0023	0.0040	0.0014	0.0021	0.0021	0.0024	0.0019	0.0023	0.0019	0.0019	0.0020	0.0019	0.0006	0	0.0020	0.0271	0	0.0004	0.0102	0.0023	0.0043	0.0004	0.069	0.36912	T	0.112	0.37037	T	0.661	0.49136	P	0.303	0.52725	B	0.000383	0.44960	N	0.152896	0.999406	0.46935	D	1.95	0.52479	M	0.51	0.58323	T	-3.82	0.71997	D	0.316	0.36043	-0.6762	0.61547	T	0.262	0.63274	T	10	0.006241679	0.00141	T	0.049782	0.63962	D	0.132	0.35948	.	.	0.665613807564	0.66279	0.5153742169824231	0.51460	0.195915520064	0.21946	0.536095499992	0.43895	T	0.753211	0.93254	D	-0.404782	0.02154	T	-0.356954	0.38405	T	0.0505611800669231	0.05598	T	0.872913	0.59164	D	0.2693161	0.50004	0.3164805	0.57628	0.27400836	0.50467	0.3576597	0.61256	-6.695	0.52156	T	.	.	0.214	0.44319	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.620263	0.34050	19.52	0.99239042739290917	0.56469	0.87950	0.47671	D	AEFBI	0.190318	0.31755	N	0.11711501150106	0.47261	2.954332	0.147735375438068	0.47021	2.938804	0.218438562043867	0.18326	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	3.56	0.39892	2.462000	0.44706	5.853000	0.50357	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2155:0.0:0.7845:0.0	10.487	0.43915	761	0.50382	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.005051	0.010870	0.005848	0.000000	0.008621	0.006098	0.003788	0.02632	287.33	24	chr9	77293357	.	G	A	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.511;SOR=0.883	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,574	18	0	1	0
chr9	77314654	77314654	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon36:c.G4285A:p.A1429T,VPS13A:NM_001018038:exon37:c.G4402A:p.A1468T,VPS13A:NM_015186:exon37:c.G4402A:p.A1468T,VPS13A:NM_033305:exon37:c.G4402A:p.A1468T	Choreoacanthocytosis, Autosomal recessive	27	1493	2	0	0	2	0.000669344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0131651629107	.	.	8.354e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs776271976	5.481e-06	5.472e-06	2.727e-06	8.262e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.602e-06	1.658e-05	2.321e-05	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.011	0.56456	D	0.065	0.45318	T	0.962	0.55554	D	0.7	0.54153	P	0.001882	0.37740	N	0.171825	0.666382	0.30403	N	2.695	0.78878	M	0.92	0.50459	T	-1.91	0.46503	N	0.281	0.42247	-0.8908	0.48864	T	0.185	0.53481	T	10	0.22157988	0.38886	T	0.013165	0.32344	T	0.101	0.28911	0.308	0.27967	0.698960112966	0.69635	0.31840423290752284	0.31753	0.149189735459	0.16824	0.467902779579	0.34392	T	0.334557	0.70428	T	-0.122915	0.32649	T	-0.313705	0.43260	T	0.811574280261993	0.47160	D	0.873613	0.58243	D	0.101658575	0.24015	0.14727877	0.34861	0.101658575	0.24014	0.14727877	0.34860	-6.772	0.52492	T	.	.	0.181	0.39339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.058613	0.60212	24.2	0.99886069301302916	0.96126	0.92001	0.54726	D	AEFGBI	0.200432	0.32716	N	0.443208558016135	0.63817	4.623109	0.47215952658974	0.66153	4.915001	0.564200124559093	0.21439	0.706298	0.61202	0	0.708844	0.79440	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	3.009000	0.49239	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0778:0.0:0.9222:0.0	13.385	0.60235	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	837.33	40	chr9	77314654	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.291;DP=691;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.78;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1157	18	0	1	0
chr9	77316185	77316185	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon38:c.G4525A:p.E1509K,VPS13A:NM_001018038:exon39:c.G4642A:p.E1548K,VPS13A:NM_015186:exon39:c.G4642A:p.E1548K,VPS13A:NM_033305:exon39:c.G4642A:p.E1548K	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	441348	VPS13A-related_disorder|Chorea-acanthocytosis|not_specified|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00741771251295	0.0018	0.000798722	0.0021	0.0006	0.0010	0	0.0003	0.0035	0.0023	0.0002	0.0021798	337	154602	rs41289967	0.0025	0.0025	0.0026	0.0025	0.0061	0.0025	0.0024	0.0045	0.0040	0.0005	0.0017	0.0048	0	0.0003	0.0061	0.0029	0.0032	0.0002	0.0021	0.0021	0.0022	0.0020	0.0035	0.0019	0.0018	0.0028	0.0027	0.0004	0	0.0035	0.0061	0	0	0.0102	0.0032	0.0038	0.0004	0.44	0.10180	T	0.562	0.09298	T	0.127	0.26966	B	0.047	0.28435	B	0.527764	0.05239	N	1.279090	1	0.08975	N	2.08	0.57402	M	1.0	0.47815	T	-0.93	0.27052	N	0.199	0.23380	-1.0390	0.17617	T	0.067	0.27434	T	10	0.0038916469	0.00074	T	0.007418	0.19685	T	0.045	0.12272	.	.	0.238705975628	0.23479	0.29944684784188474	0.29857	0.154179888537	0.17409	0.307689607143	0.11558	T	0.180395	0.53171	T	-0.606244	0.00133	T	-0.642651	0.09477	T	0.00163735869035611	0.00017	T	0.909209	0.67884	D	0.08396974	0.19415	0.073441796	0.15960	0.0916046	0.21469	0.077185936	0.17170	-4.526	0.31227	T	.	.	0.082	0.08560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.949406	0.13252	9.756	0.78432107585548716	0.12298	0.09622	0.15337	N	AEFHCI	0.091806	0.18592	N	-1.14401918918757	0.05878	0.2691698	-1.12167249919451	0.07287	0.353883	0.00160108730067787	0.08681	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.5	-0.509	0.11379	0.087000	0.14801	0.247000	0.16380	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.1372:0.4983:0.3645:0.0	11.823	0.51523	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005040	0.000000	0.012228	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	834.33	28	chr9	77316185	.	G	A	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.75;DP=635;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.89;SOR=0.316	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,823	18	0	1	0
chr9	77415977	77415977	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon71:c.G9379A:p.E3127K,VPS13A:NM_033305:exon72:c.G9496A:p.E3166K	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0448598136812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.021	0.58089	D	0.2	0.54977	B	0.049	0.46092	B	0.000095	0.51296	D	0.179045	0.994807	0.42423	D	0.55	0.14455	N	0.81	0.48460	T	-1.86	0.43524	N	0.284	0.37613	-0.7341	0.58756	T	0.236	0.60367	T	9	0.19754383	0.35689	T	0.04486	0.61695	D	0.136	0.36778	0.385	0.40460	0.618819884562	0.61573	0.4039414298073986	0.40310	0.34022045831	0.35964	0.543470978737	0.44936	T	0.307494	0.67964	T	0.0678128	0.60581	T	-0.140368	0.60086	T	0.760906159877777	0.43903	D	0.950405	0.81010	D	0.1671515	0.37094	0.20360571	0.44445	0.1671515	0.37094	0.20360571	0.44444	-5.412	0.41035	T	.	.	0.380	0.58440	A	.;.;.	.;.;.	4.075707	0.60593	24.2	0.99916110316123541	0.98379	0.98748	0.86347	D	AEFGI	0.663113	0.63274	D	0.320057073463865	0.57179	3.884287	0.460985330226583	0.65425	4.822259	0.999999998084998	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.06	6.06	0.98340	6.015000	0.70444	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:1.0:0.0	17.538	0.87734	753	0.51500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1206.81	35	chr9	77415977	.	G	A	1206.81	.	AC=2;AF=0.053;AN=38;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.73;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	1	0	0
chr9	77647697	77647697	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon1:c.C97T:p.R33C	.	416	1036	67	3	0	73	0.0340326	.	.	.	723630	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.738	.	0.0019	0.00379393	0.0066	0.0009	0.0049	0	0	0.0043	0.0052	0.0242	0.0044695	691	154602	rs138686336	0.0033	0.0033	0.0026	0.0040	0.0364	0.0032	0.0032	0.0324	0.0308	0.0010	0.0040	0.0257	0	7.59e-05	0.0364	0.0014	0.0060	0.0210	0.0028	0.0028	0.0025	0.0030	0.0180	0.0026	0.0025	0.0150	0.0138	0.0004	0	0.0048	0.0242	0	9.407e-05	0.0442	0.0019	0.0090	0.0180	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-2.47	0.88997	D	-4.76	0.80340	D	0.539	0.56662	0.856	0.95101	D	0.840	0.94656	D	10	0.009296596	0.00210	T	.	.	.	0.738	0.90895	.	.	0.911366689434	0.91047	0.7654683213464282	0.76495	0.247364135573	0.27283	0.744459748268	0.73629	T	0.773193	0.93946	D	-0.0334965	0.46907	T	0.196028	0.82911	D	0.136027127504349	0.15929	T	0.889111	0.62070	D	0.573799	0.71269	0.48309243	0.70072	0.573799	0.71270	0.48309243	0.70073	-11.881	0.84266	D	0.6395720819962271	0.71007	0.734	0.74359	P	.	.	5.366148	0.89973	31	0.99931552829862558	0.99387	0.89540	0.50069	D	AEFDBHCIJ	0.842029	0.75917	D	0.785945920123496	0.85217	8.511172	0.736347521597922	0.85135	8.490814	1.0	0.98316	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	5.39	5.39	0.77615	3.554000	0.53466	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.722	0.91661	807	0.43470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.035895	0.036842	0.040761	0.038012	0.000000	0.026316	0.015244	0.034091	0.02632	910.33	33	chr9	77647697	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=702;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.647;SOR=0.436	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr9	78236504	78236504	G	A	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon1:c.G154A:p.G52R,CEP78:NM_001330691:exon1:c.G154A:p.G52R,CEP78:NM_001330693:exon1:c.G154A:p.G52R,CEP78:NM_001330694:exon1:c.G154A:p.G52R,CEP78:NM_001349838:exon1:c.G154A:p.G52R,CEP78:NM_001349839:exon1:c.G154A:p.G52R,CEP78:NM_001349840:exon1:c.G154A:p.G52R,CEP78:NM_032171:exon1:c.G154A:p.G52R	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0119783064699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.11882	T	0.244	0.24123	T	0.039	0.42056	B	0.007	0.33616	B	0.970704	0.07776	N	1.017020	1	0.08975	N	1.04	0.26193	L	2.81	0.10975	T	0.36	0.04694	N	0.092	0.07125	-0.9581	0.39534	T	0.015	0.06282	T	10	0.101070315	0.18444	T	0.011978	0.30135	T	0.065	0.18881	0.515	0.61459	0.222439326576	0.21863	0.4778262108120082	0.47702	0.0187321088637	0.01823	0.518076300621	0.41355	T	0.022088	0.17090	T	-0.320878	0.06825	T	-0.698696	0.05898	T	0.107541109145005	0.13167	T	0.754824	0.38090	T	0.038387742	0.05105	0.076546945	0.16964	0.038387742	0.05105	0.076546945	0.16963	-7.347	0.56529	T	0.1374730396223694	0.15128	0.187	0.49412	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.402367	0.07734	4.416	0.95566031868702139	0.27250	0.05299	0.11145	N	ALL	0.077840	0.15692	N	-0.775655556519952	0.13946	0.6908468	-0.813340404191885	0.14173	0.7391696	0.99999979111401	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	-1.24	0.08948	-0.499000	0.06494	-2.361000	0.03851	-0.124000	0.13482	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.0792:0.4024:0.4039:0.1145	6.115	0.19342	971	0.05719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	78	chr9	78236504	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.877;DP=1184;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.252;SOR=0.767	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr9	81947394	81947394	A	G	exonic	SPATA31D3	.	nonsynonymous SNV	SPATA31D3:NM_207416:exon4:c.A2141G:p.N714S	.	569	950	3	0	0	3	0.00157646	.	.	.	3918945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333610161	0.0001	9.174e-05	6.595e-05	0.0002	0.0012	9.48e-05	8.816e-05	0.0010	0.0009	9.019e-05	7.067e-05	0	6.216e-05	0	0.0006	2.916e-05	0.0001	0.0012	0.0002	0.0002	0.0003	0.0002	0.0030	0.0001	0.0001	0.0010	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0030	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.2	0.00838	N	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	0.010542542	0.00234	T	.	.	.	.	.	.	.	.	.	0.01590559988925885	0.01546	.	.	0.50077688694	0.38937	T	7.66E-4	0.00362	T	.	.	.	.	.	.	.	.	.	0.219778	0.02813	T	0.049225528	0.08706	0.066313766	0.13565	0.049225528	0.08706	0.066313766	0.13564	-2.934	0.09487	T	.	.	0.069	0.02993	B	.	.	-1.392670	0.00365	0.007	0.32314085825609545	0.01866	0.00027	0.00265	N	AEFI	.	.	.	.	.	.	.	.	.	3.22789935188363E-5	0.03775	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	2.01	-1.7	0.07721	-2.866000	0.00792	-20.000000	0.00162	-1.088000	0.01543	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4995:0.211:0.2896:0.0	3.572	0.07472	939	0.14249	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	71.34	14	chr9	81947394	.	A	G	71.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=5.1;ReadPosRankSum=-0.354;SOR=0.188	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,428	18	0	1	0
chr9	81991059	81991059	C	G	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C589G:p.P197A	.	.	.	.	.	.	.	.	.	.	.	2193823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.000995875327987	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	0.0001153	3	26028	rs775216019	6.158e-06	6.156e-06	8.169e-06	4.126e-06	8.945e-05	2.9e-06	2.1e-06	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	3.598e-06	1.657e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.698	0.04200	T	0.14	0.33554	T	0.003	0.11197	B	0.003	0.08700	B	0.945734	0.07623	N	1.032410	1	0.08975	N	1.39	0.34934	L	2.88	0.10291	T	-1.53	0.37178	N	0.111	0.09772	-0.9454	0.41748	T	0.019	0.07893	T	10	0.04716009	0.03998	T	9.96E-4	0.01050	T	0.021	0.04004	0.257	0.19845	0.0138822411134	0.00435	0.04483493528564004	0.04427	.	.	0.292418837547	0.09275	T	0.024736	0.18634	T	-0.508571	0.00511	T	-0.742601	0.03782	T	0.0305684465003963	0.02079	T	0.282772	0.04965	T	0.030672329	0.02772	0.03395353	0.02377	0.030672329	0.02771	0.03395353	0.02377	-4.099	0.25275	T	.	.	0.072	0.04356	B	.	.	-0.085613	0.03728	0.768	0.09912833951863928	0.00112	0.00262	0.01432	N	AEFI	0.019087	0.00632	N	-1.46023946433773	0.02138	0.09406219	-1.60565831204756	0.01621	0.07356434	0.0028925672524408	0.09781	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.0	-6.0	0.02021	0.538000	0.22869	-8.131000	0.01023	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.188:0.5673:0.2448	7.223	0.25177	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	11371.8	33	chr9	81991059	.	C	G	11371.8	.	AC=2;AF=0.053;AN=38;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.86;QD=31.41;SOR=0.785	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1330	18	1	0	0
chr9	82997016	82997016	A	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon14:c.T1916C:p.I639T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.16202023477	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs751669186	5.65e-06	5.474e-06	5.647e-06	5.653e-06	2.535e-05	2.43e-06	1.76e-06	2.72e-06	1.75e-06	0	0	0	2.535e-05	0	0	6.539e-06	0	0	1.972e-05	1.97e-05	3.854e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.003	0.76473	D	0.954	0.54400	P	0.985	0.76457	D	0.001421	0.39109	N	0.246707	0.999981	0.54805	D	2.6	0.76081	M	-1.37	0.80214	T	-4.09	0.74821	D	0.858	0.85449	0.305	0.87632	D	0.639	0.87391	D	10	0.9774169	0.97572	D	0.16202	0.84168	D	0.793	0.93188	0.872	0.96425	0.829482567802	0.82786	0.6047715587816743	0.60408	0.754637081558	0.63948	0.414985507727	0.27146	T	0.596037	0.86984	D	0.130017	0.67363	D	-0.0355298	0.68000	D	0.979944825172424	0.73096	D	0.871013	0.57621	D	0.53468627	0.69097	0.34948176	0.60573	0.53468627	0.69098	0.34948176	0.60572	-12.006	0.84881	D	.	.	0.455	0.62445	A	.	.	4.670003	0.74633	26.2	0.99821558002964272	0.90414	0.98388	0.82268	D	AEFDBI	0.882881	0.81135	D	0.68003139376482	0.78322	6.848621	0.634422443207195	0.77455	6.682776	0.999957541078523	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.48	0.53973	9.290000	0.95109	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	0.992000	0.31684	0.993000	0.69303	0.8663:0.0:0.0:0.1337	11.597	0.50233	913	0.21160	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1863.33	35	chr9	82997016	.	A	G	1863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.621;SOR=0.71	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1469	18	0	1	0
chr9	83842257	83842257	C	T	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271928:exon15:c.G3410A:p.R1137Q,KIF27:NM_001271927:exon16:c.G3503A:p.R1168Q,KIF27:NM_001354069:exon16:c.G3308A:p.R1103Q,KIF27:NM_001354071:exon16:c.G2045A:p.R682Q,KIF27:NM_001354070:exon17:c.G2261A:p.R754Q,KIF27:NM_017576:exon17:c.G3701A:p.R1234Q	.	.	.	.	.	.	.	.	.	.	.	4159243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0261817812059	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761847847	1.559e-05	1.847e-05	1.689e-05	1.427e-05	9.957e-05	1.021e-05	8.72e-06	2.637e-05	1.431e-05	9.957e-05	3.169e-05	0	0	0	0	1.553e-05	1.724e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.41	0.32769	T	0.432	0.13634	T	0.026	0.19406	B	0.001	0.06944	B	0.611956	0.05706	N	1.256500	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	-0.84	0.22944	N	0.1	0.16447	-0.9874	0.33249	T	0.154	0.48516	T	10	0.059860796	0.07262	T	0.026182	0.49106	D	0.054	0.15330	.	.	0.452640719197	0.44884	0.05664434097378786	0.05605	1.63114432994	0.89223	0.215875700116	0.01085	T	0.004352	0.03758	T	-0.221664	0.17768	T	-0.556182	0.16737	T	0.0469663306809148	0.04958	T	0.713029	0.32487	T	0.02834029	0.02157	0.030226963	0.01453	0.02834029	0.02156	0.030226963	0.01453	-3.428	0.18539	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	0.437829	0.08080	4.806	0.90524672281213481	0.19781	0.01638	0.05273	N	AEFI	0.053073	0.09530	N	-0.919736353381989	0.10381	0.49579	-0.873125560292655	0.12733	0.6566689	5.44862009979663E-4	0.07273	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.24	2.22	0.27116	0.358000	0.19952	-1.172000	0.06122	-1.875000	0.00548	0.187000	0.24151	0.000000	0.08366	0.126000	0.19410	0.0:0.4491:0.2395:0.3114	2.901	0.05357	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	586.33	27	chr9	83842257	.	C	T	586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.84;MQRankSum=-2.39;QD=11.28;ReadPosRankSum=0.111;SOR=0.693	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,692	18	0	1	0
chr9	85621235	85621235	A	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon14:c.T2222C:p.I741T,AGTPBP1:NM_001286717:exon14:c.T2102C:p.I701T,AGTPBP1:NM_001330701:exon15:c.T2066C:p.I689T,AGTPBP1:NM_015239:exon15:c.T1946C:p.I649T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0158946789646	7.7e-05	.	8.317e-05	0	0	0	0	0.0001	0	6.103e-05	7.12e-05	11	154602	rs201128102	3.862e-05	4.036e-05	3.294e-05	4.443e-05	0.0019	2.985e-05	2.698e-05	0.0010	0.0008	0	0	0.0014	0	0	0.0019	4.759e-06	5.541e-05	5.179e-05	5.91e-05	5.905e-05	8.996e-05	2.685e-05	2.941e-05	3.075e-05	2.209e-05	4.88e-06	1.83e-06	0	0	0	0.0017	0	0	0.0034	2.941e-05	0	0	0.004	0.65419	D	0.086	0.42614	T	0.203	0.53183	B	0.219	0.47081	B	0.000002	0.62929	D	0.099644	0.999931	0.81001	D	1.745	0.45235	L	2.04	0.20808	T	-3.77	0.71397	D	0.659	0.72567	-0.5718	0.65943	T	0.255	0.62507	T	10	0.13475543	0.25644	T	0.015895	0.36884	T	0.253	0.56294	.	.	0.475272412942	0.47157	0.5537753525088746	0.55303	1.28143259134	0.82544	0.690403461456	0.65765	T	0.455622	0.79470	T	-0.119643	0.33182	T	-0.25633	0.49189	T	0.264012714296674	0.23490	T	0.958004	0.84234	D	0.3755935	0.58995	0.41518283	0.65640	0.3755935	0.58996	0.41518283	0.65640	-7.748	0.59720	D	.	.	0.168	0.41557	B	.;.;.;.	.;.;.;.	4.293304	0.65498	24.8	0.995443967817078	0.70711	0.99749	0.99180	D	AEFBI	0.881921	0.80965	D	0.510005551851246	0.67679	5.114014	0.577987378801632	0.73365	5.958449	0.999999988307782	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	8.375000	0.90028	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.674	0.77053	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	555.33	34	chr9	85621235	.	A	G	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=709;ExcessHet=0;FS=3.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.175;SOR=1.125	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,988	18	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	307.01	78	chr9	86018822	.	G	C	307.01	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.648;DP=1347;ExcessHet=0.7564;FS=158.178;InbreedingCoeff=-0.2266;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.93;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,25:70:76:.:.:76,0,571:.	9	0	4	6
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S,GOLM1:NM_177937:exon5:c.G399C:p.R133S	.	430	1064	28	0	0	28	0.012987	.	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0018	0.00299521	0.0045	0.0009	0.0044	0	0	0.0029	0.005	0.0174	0.003564	551	154602	rs140984957	0.0030	0.0031	0.0026	0.0035	0.0160	0.0030	0.0029	0.0153	0.0150	0.0006	0.0026	0.0079	0	1.873e-05	0.0090	0.0022	0.0033	0.0160	0.0022	0.0022	0.0024	0.0020	0.0122	0.0020	0.0019	0.0097	0.0088	0.0010	0	0.0036	0.0078	0.0006	0	0.0068	0.0021	0.0052	0.0122	0.15	0.24661	T	0.092	0.39954	T	0.01	0.15535	B	0.013	0.16460	B	0.112196	0.19368	N	0.554792	0.99983	0.20203	N	1.525	0.38595	L	1.05	0.39990	T	-2.86	0.60188	D	0.217	0.24260	-1.0431	0.16383	T	0.053	0.22307	T	10	0.006363988	0.00144	T	.	.	.	0.081	0.23632	0.18	0.08751	0.221734844693	0.21761	0.05271433561658003	0.05213	0.152621739343	0.17216	0.287026971579	0.08491	T	0.422817	0.77377	T	-0.561682	0.00248	T	-0.56662	0.15760	T	0.011707742043697	0.00179	T	0.722728	0.33613	T	0.13586207	0.31516	0.09560074	0.22681	0.13586207	0.31516	0.09560074	0.22680	-3.213	0.12640	T	.	.	0.253	0.48807	B	.;.	.;.	2.344900	0.30055	18.32	0.99020940272567248	0.50569	0.12262	0.17160	N	AEFDBHCI	0.150962	0.27535	N	-0.681197705656371	0.16558	0.8446677	-0.672908185262094	0.17640	0.9388459	0.951063994106124	0.27934	0.706548	0.73137	0	0.670034	0.63936	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.87	0.305	0.15048	-0.302000	0.08259	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.1526:0.4128:0.1482:0.2864	1.122	0.01620	924	0.18029	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.022727	0.02632	1462.33	35	chr9	86046538	.	C	G	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.688;DP=729;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.923;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	18	0	1	0
chr9	86323072	86323072	G	C	exonic	TUT7	.	nonsynonymous SNV	TUT7:NM_001185074:exon9:c.C2309G:p.S770C,TUT7:NM_001185059:exon13:c.C2678G:p.S893C,TUT7:NM_024617:exon13:c.C2678G:p.S893C,TUT7:NM_001330718:exon14:c.C545G:p.S182C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.028740471742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000154	0.49130	D	0.220851	0.904207	0.36246	D	2.215	0.62545	M	0.21	0.60610	T	-2.21	0.49684	N	0.448	0.68342	-0.3982	0.72084	T	0.303	0.67409	T	10	0.30388108	0.47916	T	0.02874	0.51367	D	0.179	0.44899	0.444	0.50139	0.239312915715	0.23560	0.2827960835067818	0.28192	0.707468071399	0.61491	0.380290567875	0.22297	T	0.050143	0.28509	T	0.111007	0.65456	D	-0.0783226	0.65026	T	0.948582470417023	0.62927	D	0.924208	0.72277	D	0.13598523	0.31541	0.15283899	0.35942	0.13598523	0.31541	0.15283899	0.35942	-5.926	0.45656	T	.	.	0.173	0.42067	B	.;.;.	.;.;.	4.710999	0.75686	26.4	0.99188849495856113	0.54906	0.91449	0.53556	D	AEFGBCI	0.550816	0.56314	D	0.590057878118778	0.72555	5.823982	0.608230509532505	0.75537	6.328024	0.999999772690786	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.48	5.48	0.80675	3.713000	0.54610	9.946000	0.82693	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.556	0.95339	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2174.33	47	chr9	86323072	.	G	C	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	18	0	1	0
chr9	87885239	87885239	C	T	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C752T:p.P251L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00551260220522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.566e-06	0	1.346e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.037	0.51737	D	0.006	0.13644	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.61	0.13095	T	-4.51	0.78222	D	0.177	0.19055	-0.9665	0.37914	T	0.018	0.07612	T	9	0.06341645	0.08259	T	0.005513	0.14197	T	0.006	0.00375	0.304	0.27325	0.0551355673512	0.04727	0.09408880273607319	0.09340	0.0153499523164	0.01465	0.412933588028	0.26863	T	0.02488	0.18712	T	-0.326554	0.06375	T	-0.706848	0.05459	T	0.0894519249439503	0.11152	T	0.533547	0.17787	T	0.05449232	0.10461	0.07063925	0.15032	0.05449232	0.10460	0.07063925	0.15031	-4.469	0.30481	T	.	.	0.081	0.08417	B	.	.	0.864668	0.12371	8.910	0.49056081467006352	0.04145	0.00171	0.01011	N	AEFBI	0.024724	0.01577	N	-1.4171675354572	0.02488	0.1099246	-1.51089496581177	0.02260	0.103665	0.734612682285564	0.23109	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.838	-0.195	0.12586	-0.633000	0.05581	-4.320000	0.02219	-0.389000	0.05354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6837:0.0:0.3163	3.462	0.07103	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	34	chr9	87885239	.	C	T	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.078;SOR=0.7	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr9	87885516	87885516	C	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C1029A:p.D343E	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0134944229848	.	.	3.297e-05	0	0	0	0	5.997e-05	0	0	2.59e-05	4	154602	rs752849214	3.557e-05	3.557e-05	2.586e-05	4.538e-05	0.0012	2.762e-05	2.501e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	2.878e-05	0.0002	1.159e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.258	0.23164	T	0.999	0.77913	D	0.973	0.72923	D	.	.	.	.	1	0.08975	N	2.36	0.67893	M	3.55	0.04746	T	-2.53	0.54864	D	0.051	0.02272	-1.0024	0.29226	T	0.024	0.10419	T	9	0.14130977	0.26851	T	0.013494	0.32933	T	0.047	0.12962	0.332	0.31843	0.0297737177859	0.01360	0.015579570648340027	0.01513	0.0512487584637	0.05640	0.467757284641	0.34372	T	0.027619	0.20184	T	-0.416233	0.01809	T	-0.705215	0.05546	T	0.609409153461456	0.36777	D	0.340966	0.07383	T	0.08664352	0.20147	0.11255765	0.27159	0.08664352	0.20146	0.11255765	0.27158	-5.684	0.43551	T	.	.	0.222	0.45347	B	.	.	1.293215	0.16940	12.86	0.98701898497851204	0.44924	0.00922	0.03585	N	AEFBI	0.035362	0.04537	N	-0.499752278209978	0.22089	1.177019	-0.776803585493967	0.15064	0.7904105	0.966008304594647	0.28871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.37	-1.08	0.09428	-0.259000	0.08742	-8.659000	0.00933	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1958:0.3719:0.1914:0.2409	0.619	0.00724	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	5386.81	34	chr9	87885516	.	C	A	5386.81	.	AC=2;AF=0.053;AN=38;DP=1296;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=0.704	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	1	0	0
chr9	87887321	87887321	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G2834A:p.R945Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0048	0.0071885	0.0015	0.0163	0.0005	0	0	7.595e-05	0	0	0.0014683	227	154602	rs77279910	0.0005	0.0005	0.0006	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0008	0	0	0	0.0009	1.888e-05	0.0010	5.797e-05	0.0046	0.0047	0.0049	0.0044	0.0165	0.0043	0.0042	0.0155	0.0151	0.0165	0	0.0009	0	0	0	0	5.882e-05	0.0005	0	0.446	0.09101	T	0.037	0.51737	D	0.012	0.16265	B	0.002	0.06944	B	0.000864	0.00701	N	3.912520	1	0.08975	N	0	0.06538	N	3.96	0.03354	T	0.47	0.03090	N	0.031	0.00770	-0.9557	0.39970	T	0.003	0.00897	T	10	0.002910912	0.00047	T	.	.	.	0.019	0.03383	.	.	0.0806252709748	0.07271	0.07286465031363669	0.07223	0.0104891913095	0.00965	0.457826346159	0.33012	T	0.002687	0.02075	T	-0.779437	0.00011	T	-0.878758	0.00664	T	0.000230617179781517	0.00001	T	0.463654	0.13513	T	0.024039961	0.01198	0.03113192	0.01659	0.024039961	0.01197	0.03113192	0.01659	-3.402	0.15083	T	.	.	0.080	0.07745	B	.	.	0.264332	0.06425	2.895	0.66348872196650777	0.08033	0.00115	0.00727	N	AEFDBI	0.029238	0.02722	N	-1.54441241475884	0.01567	0.06848674	-1.67599825783642	0.01247	0.05620342	0.992293177492903	0.32788	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	-4.52	0.03227	-0.309000	0.08185	-12.814000	0.00499	-1.204000	0.01358	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.1362:0.1822:0.3129:0.3686	1.237	0.01837	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2374.33	34	chr9	87887321	.	G	A	2374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=1223;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-1.496;SOR=0.609	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr9	87919289	87919289	-	GC	exonic	SPATA31C1	.	frameshift insertion	SPATA31C1:NM_001145124:exon2:c.224_225insGC:p.C76Rfs*14	.	382	1133	7	0	0	7	0.00307963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.574e-05	0	0	0.0010	0	1.508e-05	0	0	3.84e-05	1	26028	rs747991568	0.0013	0.0031	0.0012	0.0013	0.0480	0.0012	0.0012	0.0460	0.0452	0.0003	0	3.863e-05	0.0480	0.0007	0.0004	3.071e-05	0.0016	0.0007	0.0013	0.0046	0.0011	0.0016	0.0395	0.0012	0.0011	0.0343	0.0323	0.0003	0	0.0003	0	0.0395	0.0013	0	0.0001	0.0019	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2169.29	663	chr9	87919289	.	A	AGC	2169.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.576;DP=7873;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58;MQRankSum=-13.66;QD=3.84;ReadPosRankSum=5.71;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:588,0:588:99:.:.:0,120,1800:.	18	0	1	0
chr9	87923071	87923071	G	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon4:c.G3164T:p.S1055I	.	426	1045	48	3	0	54	0.0251866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00399361	0.0043	0.0003	0.0040	0	0.0006	0.0034	0.0067	0.0139	0.0035705	552	154602	rs376807700	0.0027	0.0027	0.0022	0.0032	0.0231	0.0026	0.0026	0.0199	0.0187	0.0002	0.0032	0.0112	0	0.0004	0.0231	0.0017	0.0043	0.0139	0.0022	0.0022	0.0020	0.0025	0.0143	0.0020	0.0019	0.0116	0.0106	0.0003	0	0.0037	0.0107	0	0.0002	0.0170	0.0022	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018765	0.016949	0.012329	0.017699	0.100000	0.017544	0.023077	0.037190	0.05263	7131.83	45	chr9	87923071	.	G	T	7131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.081;DP=1430;ExcessHet=0.119;FS=10.931;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.09;MQRankSum=-2.99;QD=15.01;ReadPosRankSum=-0.983;SOR=0.286	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	17	0	2	0
chr9	88129634	88129634	A	G	exonic	SPATA31C2	.	stoploss	SPATA31C2:NM_001166137:exon4:c.T3403C:p.X1135Q,SPATA31C2:NM_001350978:exon4:c.T3403C:p.X1135Q	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1433687331	0.0009	0.0013	0.0009	0.0009	0.0032	0.0009	0.0008	0.0021	0.0017	0.0005	0.0017	0.0004	0.0004	0.0004	0.0032	0.0008	0.0017	0.0016	0.0020	0.0031	0.0022	0.0019	0.0030	0.0019	0.0018	0.0027	0.0026	0.0013	0.0044	0.0018	0.0012	0.0008	0.0002	0.0068	0.0030	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	162.33	33	chr9	88129634	.	A	G	162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.34;DP=809;ExcessHet=0;FS=36.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.93;MQRankSum=-6.081;QD=1.01;ReadPosRankSum=-3.659;SOR=4.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1470	18	0	1	0
chr9	88130057	88130057	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G2980A:p.V994I,SPATA31C2:NM_001350978:exon4:c.G2980A:p.V994I	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	0.0042	0	0.0002	0.0002	0	3.003e-05	0.0056	0.0300	0.003564	551	154602	rs369026353	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	9e-05	6.744e-05	0	0.0002	0	0.0007	2.885e-05	0.0018	0.0303	0.0010	0.0010	0.0005	0.0015	0.0304	0.0009	0.0008	0.0264	0.0249	2.406e-05	0	6.541e-05	0	0	0	0	8.819e-05	0	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002364	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.004132	0.02632	3293.33	308	chr9	88130057	.	C	T	3293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.72;DP=2168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.64;MQRankSum=0.065;QD=10.13;ReadPosRankSum=0.977;SOR=0.683	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr9	88130671	88130671	G	A	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.C2366T:p.A789V,SPATA31C2:NM_001350978:exon4:c.C2366T:p.A789V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0016	0.0203	0.0015	0	0	1.895e-05	0	0.0001	0.0015368	40	26028	rs541938675	0.0005	0.0005	0.0006	0.0004	0.0178	0.0005	0.0005	0.0167	0.0162	0.0178	0.0013	0	0	0	0.0007	1.349e-05	0.0011	0.0001	0.0054	0.0055	0.0056	0.0052	0.0188	0.0051	0.0050	0.0177	0.0173	0.0188	0	0.0026	0	0	0	0	1.47e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001200	0.007692	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1126.33	50	chr9	88130671	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=1045;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.94;MQRankSum=0.252;QD=9.23;ReadPosRankSum=-0.34;SOR=1.005	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr9	88131464	88131464	G	A	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.C1573T:p.P525S,SPATA31C2:NM_001350978:exon4:c.C1573T:p.P525S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.101e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs747191289	8.427e-05	8.414e-05	8.18e-05	8.676e-05	0.0002	7.214e-05	6.76e-05	9.117e-05	8.527e-05	0	2.237e-05	0	0	0	0.0002	0.0001	3.322e-05	0	0.0001	0.0001	0.0001	6.72e-05	0.0002	6.513e-05	5.324e-05	0.0001	0.0001	2.408e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1736.33	50	chr9	88131464	.	G	A	1736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.95;DP=1077;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.9;MQRankSum=-1.063;QD=11.35;ReadPosRankSum=1.27;SOR=0.855	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr9	88132145	88132145	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G892A:p.V298I,SPATA31C2:NM_001350978:exon4:c.G892A:p.V298I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0.0011	0.0002	0	0	4.524e-05	0	0.0001	0.0002689	7	26028	rs642814	0.0001	0.0001	0.0001	8.963e-05	0.0014	9.356e-05	8.839e-05	0.0011	0.0010	0.0014	8.986e-05	3.838e-05	0	0	0.0002	8.292e-05	0.0002	1.16e-05	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0002	0	0	0.0002	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001161	0.000000	0.001370	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	4042.33	50	chr9	88132145	.	C	T	4042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.34;DP=1225;ExcessHet=0;FS=2.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.59;MQRankSum=-18.23;QD=9.76;ReadPosRankSum=0.009;SOR=0.926	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	18	0	1	0
chr9	88133647	88133647	-	GACGCTGGGAGACAAGATGACGCTGGGAGACAAGAT	exonic	SPATA31C2	.	nonframeshift insertion	SPATA31C2:NM_001166137:exon2:c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTC:p.R70_P71insHLVSQRHLVSQR,SPATA31C2:NM_001350978:exon2:c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTC:p.R70_P71insHLVSQRHLVSQR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	8.639e-05	0.0052	0.0003	3.016e-05	0	0	0.0006147	16	26028	.	0.0005	0.0012	0.0005	0.0005	0.0126	0.0005	0.0005	0.0116	0.0113	0.0002	0	0	0.0126	0.0031	0.0002	2.905e-05	0.0006	0.0003	0.0021	0.0033	0.0016	0.0026	0.0419	0.0019	0.0018	0.0371	0.0352	0.0001	0	0.0006	0	0.0419	0.0075	0	0.0002	0.0010	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2256.29	39	chr9	88133647	.	G	GGACGCTGGGAGACAAGATGACGCTGGGAGACAAGAT	2256.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.14;DP=1169;ExcessHet=0;FS=35.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.08;MQRankSum=-14.87;QD=9.1;ReadPosRankSum=-5.474;SOR=2.34	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	88991483	88991483	C	G	exonic	C9orf47	.	nonsynonymous SNV	C9orf47:NM_001001938:exon2:c.C260G:p.P87R,C9orf47:NM_001142413:exon2:c.C203G:p.P68R	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	.	0.0059	0.00978435	0.0157	0.0207	0	0	0	0.0095	0.0077	0.0189	0.0029042	449	154602	rs201976671	0.0084	0.0081	0.0083	0.0086	0.0185	0.0083	0.0082	0.0178	0.0174	0.0117	0.0045	0.0088	0.0003	0.0008	0.0020	0.0083	0.0088	0.0185	0.0081	0.0081	0.0083	0.0079	0.0205	0.0077	0.0075	0.0173	0.0160	0.0115	0	0.0042	0.0127	0.0002	0.0006	0	0.0076	0.0099	0.0205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	.	.	.	.	.	-1.0671	0.10062	T	0.048	0.20672	T	8	0.0040816665	0.00080	T	.	.	.	0.328	0.65026	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.538687	0.00341	T	-0.531627	0.19124	T	0.068240515513103	0.08403	T	0.431557	0.12582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37727	B	.;.	.;.	-0.033960	0.04055	0.939	0.96469185357153431	0.29928	0.00917	0.03571	N	ALL	0.024277	0.01477	N	-0.607487237036006	0.18718	0.9740632	-0.833759434358126	0.13678	0.7108873	0.999999715272411	0.74766	0.443343	0.08805	1	0.514364	0.08380	0	0.666236	0.60216	0	0.372554	0.06265	0	.	.	2.39	0.458	0.15882	-4.066000	0.00341	-3.731000	0.02575	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.2596:0.5868:0.0:0.1536	3.108	0.05966	635	0.64580	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011111	0.02632	59.33	33	chr9	88991483	.	C	G	59.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.026;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.726;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,882	18	0	1	0
chr9	90845581	90845581	A	G	exonic	SYK	.	nonsynonymous SNV	SYK:NM_001135052:exon3:c.A565G:p.N189D,SYK:NM_001174167:exon3:c.A565G:p.N189D,SYK:NM_001174168:exon3:c.A565G:p.N189D,SYK:NM_003177:exon3:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.113939374023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.025	0.20508	B	0.000000	0.84330	N	0.046720	0.999999	0.58761	D	-0.685	0.02019	N	-2.75	0.90792	D	1.04	0.06739	N	0.14	0.17966	-0.6428	0.63026	T	0.359	0.72124	T	10	0.23337623	0.40354	T	0.113939	0.79261	D	0.276	0.59253	0.529	0.63560	0.773140178029	0.77105	0.7610669472505758	0.76054	1.56828028248	0.88144	0.551123082638	0.46016	T	0.265312	0.63716	T	-0.0119794	0.49989	T	-0.254984	0.49324	T	0.605934619903564	0.36637	D	0.787421	0.42665	T	0.15410736	0.34899	0.08381145	0.19236	0.15410736	0.34898	0.08381145	0.19236	-5.704	0.43871	T	.	.	0.296	0.52696	B	.;.;.;.	.;.;.;.	1.468015	0.18916	13.99	0.28312806622893838	0.01448	0.91614	0.53897	D	AEFBI	0.432669	0.49445	N	-0.820946017391299	0.12775	0.6249324	-0.671311573533882	0.17679	0.9411531	0.99983325624282	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.1	2.78	0.31702	2.738000	0.47075	6.882000	0.56816	0.691000	0.84096	0.992000	0.37556	1.000000	0.68203	0.167000	0.20881	0.8531:0.0:0.1469:0.0	9.202	0.36424	964	0.07719	SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1906.33	34	chr9	90845581	.	A	G	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.588;DP=753;ExcessHet=0;FS=7.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.29;SOR=0.364	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr9	91724254	91724254	C	T	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_004560:exon9:c.G2240A:p.R747Q	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	270530	Autosomal_recessive_Robinow_syndrome|Brachydactyly_type_B1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.369	0.0421875816267	0.0002	.	0.0002	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs201155263	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0001	0.0003	0	5.038e-05	1.895e-05	0.0007	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	9.42e-05	0.0002	8.668e-05	7.259e-05	0.0001	0.0001	0	0	0.0002	0	0	0	0	0.0002	0	0.0002	0.126	0.27194	T	0.161	0.53426	T	0.933	0.52105	P	0.119	0.32162	B	0.028164	0.25643	N	0.174306	1	0.81001	D	1.895	0.50365	L	-1.11	0.77593	T	-2.09	0.47683	N	0.764	0.76203	-0.5805	0.65597	T	0.225	0.58932	T	10	0.6539493	0.69764	D	0.042188	0.60330	D	0.369	0.68844	.	.	0.908800716689	0.90788	0.6626708128130001	0.66204	0.274973453557	0.29980	0.506133675575	0.39682	T	0.254724	0.62542	T	-0.146158	0.28916	T	-0.146001	0.59596	T	0.0613683672316156	0.07383	T	0.989451	0.96526	D	0.5991716	0.72647	0.276091	0.53551	0.5991716	0.72648	0.276091	0.53550	-10.027	0.74073	D	0.3318399739107717	0.42984	0.148	0.32637	B	.;.	.;.	4.297766	0.65597	24.9	0.99740561205511624	0.83482	0.91769	0.54224	D	AEFDBCI	0.756550	0.69578	D	0.0180893088107864	0.42677	2.575993	0.0494384301167425	0.42046	2.536289	0.999999980949949	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.083000	0.70975	7.624000	0.62436	0.524000	0.24156	0.977000	0.34929	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.751	0.88344	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1898.33	127	chr9	91724254	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=1486;ExcessHet=0;FS=2.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.83;SOR=0.978	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr9	91724905	91724905	C	T	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_004560:exon9:c.G1589A:p.R530Q	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	268870	Brachydactyly_type_B1|not_provided|not_specified|Autosomal_recessive_Robinow_syndrome	MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.282	0.0636953884828	0.0016	0.00139776	0.0022	0.0007	0.0004	0	0.0009	0.0027	0.0011	0.0042	0.0021669	335	154602	rs35852786	0.0030	0.0030	0.0029	0.0030	0.0034	0.0029	0.0029	0.0033	0.0032	0.0005	0.0006	0.0017	5.058e-05	0.0010	0.0007	0.0034	0.0031	0.0034	0.0019	0.0019	0.0021	0.0017	0.0033	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0009	0.0023	0	0.0006	0	0.0031	0.0014	0.0033	0.021	0.49117	D	0.288	0.28032	T	0.398	0.34801	B	0.02	0.19048	B	0.001938	0.37643	N	0.000000	0.998811	0.49283	D	0.4	0.12274	N	-1.56	0.81815	D	0.93	0.01712	N	0.307	0.34659	-0.3796	0.72663	T	0.313	0.68300	T	10	0.01053378	0.00234	T	0.063695	0.69047	D	0.282	0.59981	.	.	0.911562725633	0.91067	0.3143042241298655	0.31343	0.242540841782	0.26761	0.44778418541	0.31641	T	0.196549	0.55297	T	-0.343682	0.05137	T	-0.268241	0.47998	T	0.0227618054649298	0.00996	T	0.917708	0.70849	D	0.41225776	0.61572	0.22330272	0.47204	0.36875328	0.58492	0.18215007	0.41122	-7.762	0.59437	D	0.12488082199287096	0.12325	0.087	0.24934	B	.;.	.;.	3.344857	0.46112	22.2	0.99789544571469324	0.87572	0.86014	0.45219	D	AEFDBCI	0.616086	0.60278	D	-0.13327597507739	0.35947	2.071469	-0.0297583570281042	0.38378	2.260173	0.99966080899414	0.41534	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	2.672000	0.46515	4.865000	0.45508	0.549000	0.26987	0.042000	0.21073	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.701	0.88202	814	0.42100	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3040.33	40	chr9	91724905	.	C	T	3040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=1023;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.772;SOR=0.592	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:234,142:386:99:425,0,4029	1	0	18	0
chr9	92318622	92318622	C	T	exonic	NOL8	.	nonsynonymous SNV	NOL8:NM_001330722:exon6:c.G482A:p.R161H,NOL8:NM_017948:exon6:c.G482A:p.R161H,NOL8:NM_001256394:exon7:c.G278A:p.R93H	.	476	1026	17	3	0	23	0.0110843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0046	0.00379393	0.0087	0.0017	0.0042	0	0.0100	0.0129	0.0117	0.0026	0.0073285	1133	154602	rs41277645	0.0076	0.0077	0.0077	0.0075	0.0105	0.0075	0.0074	0.0083	0.0083	0.0012	0.0046	0.0121	2.544e-05	0.0068	0.0105	0.0085	0.0077	0.0022	0.0061	0.0061	0.0061	0.0060	0.0090	0.0057	0.0056	0.0084	0.0081	0.0014	0.0417	0.0043	0.0141	0	0.0065	0.0068	0.0090	0.0095	0.0027	0.285	0.16793	T	0.393	0.22828	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	0.999294	0.21398	N	1.91	0.51138	L	2.49	0.44856	T	-1.2	0.41046	N	0.124	0.16028	-1.0449	0.15854	T	0.049	0.20947	T	9	0.0024565756	0.00037	T	.	.	.	0.013	0.01715	.	.	0.264547087235	0.26054	0.4168627501312173	0.41602	0.0630273627958	0.07016	0.245842188597	0.03343	T	0.00535	0.24182	T	-0.548503	0.00298	T	-0.551268	0.17205	T	0.0071528414580583	0.00082	T	0.106489	0.01237	T	0.030291647	0.02666	0.052772533	0.08761	0.030291647	0.02666	0.052772533	0.08760	-4.49	0.30757	T	.	.	0.077	0.09288	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.493128	0.19202	14.14	0.83054433844074205	0.14518	0.17030	0.19658	N	AEFBI	0.080389	0.16251	N	-1.06666239241809	0.07265	0.3369406	-0.973413847232161	0.10384	0.5226825	0.0982261939734063	0.16300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-1.93	0.07180	-0.110000	0.10794	-2.755000	0.03395	-0.908000	0.02283	0.353000	0.25784	0.000000	0.08366	0.975000	0.56047	0.0:0.3716:0.0:0.6284	12.651	0.56126	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs41277645	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008569	0.005051	0.010870	0.005882	0.050000	0.025862	0.009146	0.011364	0.05263	1831.83	33	chr9	92318622	.	C	T	1831.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.065;DP=747;ExcessHet=0.119;FS=0.58;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.48;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	17	0	2	0
chr9	92613124	92613124	C	T	exonic	CENPP	.	nonsynonymous SNV	CENPP:NM_001286971:exon4:c.C323T:p.S108L,CENPP:NM_001286969:exon7:c.C506T:p.S169L,CENPP:NM_001012267:exon8:c.C842T:p.S281L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00154866346603	7.7e-05	0.000199681	0.0003	0	8.64e-05	0	0	5.995e-05	0	0.0019	0.0002717	42	154602	rs375746253	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	0	4.472e-05	0	0	0	0.0002	4.406e-05	0.0001	0.0022	9.193e-05	9.186e-05	5.14e-05	0.0001	0.0017	5.524e-05	4.362e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	7.349e-05	0	0.0017	0.351	0.12265	T	1.0	0.07894	T	0.001	0.07471	B	0.001	0.04355	B	0.121523	0.02729	N	1.937940	1	0.08975	N	-0.35	0.03145	N	.	.	.	0.37	0.08971	N	0.087	0.08646	-1.0663	0.10246	T	0.058	0.24242	T	9	0.0049960315	0.00107	T	0.001549	0.02445	T	0.003	0.00094	.	.	0.0920862733494	0.08535	0.3265859349870014	0.32571	0.244596156274	0.26960	0.293012976646	0.09363	T	0.007337	0.06752	T	-0.645899	0.00077	T	-0.70735	0.05433	T	0.0204721626618642	0.00747	T	0.738826	0.36032	T	0.019975413	0.00541	0.024305174	0.00448	0.019975413	0.00541	0.024305174	0.00447	-2.14	0.19437	T	.	.	0.066	0.17827	B	.;.;.	.;.;.	0.491032	0.08603	5.371	0.84374772411105825	0.15254	0.01559	0.05102	N	AEFDBI	0.022713	0.01170	N	-1.50603714407212	0.01810	0.07932172	-1.58965406907493	0.01718	0.07809204	0.999999833336297	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	-7.07	0.01409	-0.824000	0.04545	-0.874000	0.07091	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.1092:0.5284:0.1112:0.2512	5.703	0.17162	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	35	chr9	92613124	.	C	T	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.806;DP=694;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.89;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	18	0	1	0
chr9	93010369	93010369	C	T	exonic	FGD3	.	nonsynonymous SNV	FGD3:NM_001083536:exon7:c.C961T:p.R321W,FGD3:NM_001286993:exon7:c.C961T:p.R321W,FGD3:NM_001369951:exon7:c.C961T:p.R321W,FGD3:NM_001369952:exon7:c.C961T:p.R321W,FGD3:NM_033086:exon7:c.C961T:p.R321W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0156027726489	0.0008	0.000798722	0.0015	0.0007	9.266e-05	0	0.0015	0.0024	0.0025	0	0.0013389	207	154602	rs113145792	0.0015	0.0015	0.0015	0.0014	0.0014	0.0014	0.0014	0.0013	0.0013	0.0004	0.0007	0.0126	0	0.0019	0.0012	0.0014	0.0018	3.486e-05	0.0015	0.0015	0.0015	0.0015	0.0018	0.0013	0.0013	0.0016	0.0015	0.0004	0	0.0007	0.0153	0	0.0015	0.0034	0.0018	0.0033	0	0.326	0.13306	T	0.303	0.20164	T	0.03	0.20002	B	0.032	0.22131	B	0.541991	0.11526	N	0.705350	0.869005	0.35527	D	1.905	0.50856	L	1.44	0.32722	T	-1.15	0.29525	N	0.379	0.42050	-1.0582	0.12209	T	0.055	0.23224	T	10	0.007978857	0.00181	T	0.015603	0.36422	T	0.054	0.15330	.	.	0.200317383148	0.19677	0.611472957282554	0.61079	0.307934261036	0.33093	0.273233026266	0.06566	T	0.124378	0.44936	T	-0.512	0.00489	T	-0.509702	0.21346	T	0.00700126968233767	0.00080	T	0.830517	0.49623	T	0.061298598	0.12678	0.048829027	0.07336	0.061298598	0.12678	0.048829027	0.07335	-7.714	0.59292	D	.	.	0.073	0.06250	B	.;.;.;.	.;.;.;.	2.093743	0.26636	17.19	0.489999968765918	0.04136	0.52683	0.29190	D	AEFDBI	0.299346	0.40842	N	-0.811276979205441	0.13022	0.6386459	-0.875108079456262	0.12685	0.6539621	0.999583295706255	0.40607	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.29	-3.65	0.04212	0.031000	0.13598	-0.437000	0.09184	0.581000	0.30040	0.855000	0.30528	0.031000	0.21272	0.087000	0.17632	0.3161:0.3109:0.0:0.373	4.286	0.10301	970	0.06235	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.005051	0.000000	0.000000	0.050000	0.000000	0.000000	0.003788	0.05263	1537.81	33	chr9	93010369	.	C	T	1537.81	.	AC=2;AF=0.053;AN=38;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.76;SOR=1.157	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	18	1	0	0
chr9	93185372	93185372	C	G	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon1:c.C443G:p.A148G,WNK2:NM_006648:exon1:c.C443G:p.A148G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0763283002347	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330733844	7.013e-07	6.84e-07	0	1.416e-06	2.533e-05	0	0	.	.	0	2.533e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.59928	T	0.367	0.34359	T	0.003	0.12996	B	0.003	0.11217	B	0.493850	0.12027	N	0.721535	0.999941	0.30782	N	1.52	0.38360	L	-0.64	0.72125	T	-1.5	0.36586	N	0.064	0.03613	-0.9721	0.36755	T	0.055	0.23262	T	10	0.100353986	0.18270	T	0.076328	0.72505	D	0.078	0.22779	0.084	0.00795	0.128874641272	0.12493	0.42491606485639444	0.42408	1.43513484205	0.85872	0.743680596352	0.73514	T	0.122633	0.44644	T	-0.1859	0.22861	T	-0.397152	0.33716	T	0.0474260047921173	0.05040	T	0.666133	0.27528	T	0.102984466	0.24339	0.08147482	0.18518	0.102984466	0.24339	0.08147482	0.18518	-4.068	0.24817	T	.	.	0.08	0.24666	B	.;.;.	.;.;.	1.318530	0.17221	13.03	0.9390824057032584	0.23942	0.14653	0.18516	N	AEFDBI	0.177327	0.30456	N	-0.806901084898459	0.13134	0.6448777	-0.960357608392025	0.10683	0.5396469	0.999972053018011	0.50053	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	4.14	-2.6	0.05830	0.007000	0.13074	1.671000	0.27955	0.526000	0.24426	0.014000	0.18986	0.978000	0.30204	0.020000	0.11549	0.3085:0.2759:0.3382:0.0775	3.772	0.08165	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	567.33	27	chr9	93185372	.	C	G	567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=664;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.015;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	18	0	1	0
chr9	93257029	93257029	C	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon10:c.C2272A:p.H758N,WNK2:NM_006648:exon10:c.C2272A:p.H758N	.	425	1096	1	0	0	1	0.000455996	.	.	.	701093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.047	.	0.0061	0.00279553	0.0053	0.0022	0.0055	0.0002	0.0020	0.0077	0.0064	0.0015	0.0047024	727	154602	rs41278262	0.0094	0.0094	0.0098	0.0090	0.0113	0.0093	0.0092	0.0111	0.0111	0.0012	0.0043	0.0024	0.0002	0.0013	0.0023	0.0113	0.0097	0.0015	0.0056	0.0056	0.0059	0.0052	0.0092	0.0052	0.0051	0.0086	0.0083	0.0021	0.0121	0.0063	0.0032	0	0.0005	0.0068	0.0092	0.0024	0.0010	0.164	0.51853	T	0.33	0.18560	T	0.0	0.02946	B	0.0	0.04355	B	0.244535	0.15640	N	0.618249	1	0.23905	N	2.25	0.63811	M	1.9	0.68616	T	-2.36	0.62343	N	0.444	0.48227	-1.0355	0.18700	T	0.082	0.32266	T	10	0.004042715	0.00079	T	.	.	.	0.086	0.25016	.	.	0.260580752073	0.25663	0.1045724847074728	0.10387	0.152443170425	0.17205	0.431066960096	0.29354	T	0.088745	0.38225	T	-0.449631	0.01135	T	-0.405666	0.32727	T	0.0123801078313817	0.00202	T	0.552145	0.26116	T	0.23593333	0.46436	0.17842396	0.40510	0.22124769	0.44697	0.17124397	0.39292	-4.423	0.29867	T	.	.	0.076	0.13080	B	.;.;.	.;.;.	1.002572	0.13811	10.36	0.73932129304069227	0.10508	0.17513	0.19869	N	AEFDBI	0.140367	0.26224	N	-0.698168665429036	0.16073	0.8157437	-0.76811386551051	0.15278	0.8027211	0.993129822727322	0.33094	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	3.07	0.34476	1.516000	0.35463	3.320000	0.37537	0.599000	0.40250	0.002000	0.15269	0.962000	0.29361	0.042000	0.14466	0.1466:0.7125:0.1409:0.0	10.946	0.46514	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002523	0.010204	0.000000	0.000000	0.000000	0.008621	0.003067	0.003788	0.02632	509.33	35	chr9	93257029	.	C	A	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=658;ExcessHet=0;FS=5.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.077;SOR=0.365	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	18	0	1	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I,WNK2:NM_001282394:exon28:c.G6430A:p.V2144I	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011111	0.005102	0.004098	0.011765	0.000000	0.000000	0.015337	0.034091	0.05263	5176.81	40	chr9	93308387	.	G	A	5176.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.76;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	18	1	0	0
chr9	93471348	93471348	C	G	exonic	FAM120A	.	nonsynonymous SNV	FAM120A:NM_001286722:exon2:c.C682G:p.L228V,FAM120A:NM_001286723:exon2:c.C682G:p.L228V,FAM120A:NM_001286724:exon2:c.C682G:p.L228V,FAM120A:NM_014612:exon2:c.C682G:p.L228V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.0233250208303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.065	0.92824	T	0.875	0.90584	P	0.467	0.86255	P	0.000055	0.53742	D	0.000000	0.999967	0.52935	D	2.32	0.66415	M	0.7	0.51474	T	-2.1	0.47852	N	0.857	0.86511	-0.6205	0.63968	T	0.253	0.62246	T	10	0.7059058	0.72735	D	0.023325	0.46285	T	0.351	0.67234	0.603	0.73466	0.659038424525	0.65618	0.5513577234695306	0.55061	1.82181212601	0.91961	0.742148637772	0.73288	T	0.109827	0.42402	T	0.227444	0.76480	D	0.0889313	0.76173	D	0.8989841827697	0.55120	D	0.880112	0.60417	D	0.27771616	0.50828	0.24600185	0.50100	0.27771616	0.50828	0.24600185	0.50099	-14.123	0.93449	D	.	.	0.391	0.69399	A	.;.;.	.;.;.	4.640608	0.73874	26.1	0.99829109608136868	0.91112	0.98281	0.81223	D	AEFDBIJ	0.944438	0.95153	D	0.438840748009051	0.63574	4.593621	0.439587488238468	0.64051	4.651649	0.999999999986672	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.631177	0.49321	0	.	.	5.14	4.23	0.49319	5.949000	0.69973	4.089000	0.41792	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1402:0.8598:0.0:0.0	15.419	0.74722	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1985.33	40	chr9	93471348	.	C	G	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.606;DP=777;ExcessHet=0;FS=6.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.357;SOR=0.333	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	93666053	93666053	C	T	exonic	PHF2	.	nonsynonymous SNV	PHF2:NM_005392:exon16:c.C2180T:p.A727V	.	426	1088	8	0	0	8	0.003663	.	.	.	2209707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00710352431844	7.7e-05	0.000399361	0.0001	0	8.673e-05	0.0002	0	1.515e-05	0	0.0007	0.0001164	18	154602	rs139699684	7.532e-05	7.73e-05	5.449e-05	9.638e-05	0.0010	6.388e-05	5.944e-05	0.0005	0.0005	0	0	0	5.042e-05	0	0.0010	3.239e-05	0.0001	0.0007	3.941e-05	3.937e-05	1.285e-05	6.719e-05	0.0004	1.715e-05	1.129e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0004	1.0	0.00964	T	0.29	0.21011	T	0.015	0.17086	B	0.004	0.10090	B	0.384855	0.04442	N	1.373100	1	0.08975	N	-0.205	0.04094	N	2.29	0.17113	T	-0.33	0.12472	N	0.076	0.05037	-0.9868	0.33396	T	0.016	0.06616	T	10	0.008565009	0.00194	T	0.007104	0.18814	T	0.005	0.00259	.	.	0.138757226776	0.13463	0.07269205793870805	0.07206	0.529892985118	0.50547	0.226193100214	0.01698	T	0.011642	0.10361	T	-0.663024	0.00060	T	-0.797969	0.01954	T	0.00475891974098895	0.00051	T	0.492651	0.15191	T	0.01186438	0.00023	0.022310345	0.00258	0.01186438	0.00023	0.022310345	0.00258	-2.714	0.07421	T	.	.	0.059	0.00806	B	.	.	-0.404926	0.02194	0.218	0.65487363537613863	0.07786	0.00312	0.01649	N	AEFDBI	0.018310	0.00546	N	-1.60545553328655	0.01237	0.05382786	-1.55082444931994	0.01970	0.089982	0.990241947802382	0.32087	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.21	-0.156	0.12736	0.061000	0.14242	-1.125000	0.06256	-2.136000	0.00379	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.1222:0.2398:0.0:0.638	5.456	0.15888	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	945.33	33	chr9	93666053	.	C	T	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.376;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-1.031;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	18	0	1	0
chr9	94098440	94098440	T	A	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.T1874A:p.L625Q,PTPDC1:NM_152422:exon6:c.T1868A:p.L623Q,PTPDC1:NM_001253830:exon7:c.T1712A:p.L571Q,PTPDC1:NM_177995:exon7:c.T1712A:p.L571Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	7.7e-05	0.0113818	0.0047	0.0009	0	0.0624	0	7.492e-05	0.0022	0.0010	0.0043208	668	154602	rs16909677	0.0029	0.0029	0.0030	0.0029	0.0990	0.0029	0.0028	0.0964	0.0953	0.0002	8.944e-05	0	0.0990	0	0.0003	3.327e-05	0.0032	0.0015	0.0024	0.0024	0.0020	0.0028	0.0606	0.0022	0.0021	0.0551	0.0529	0.0006	0	0.0005	0	0.0606	0	0	5.881e-05	0.0014	0.0023	0.038	0.51248	D	0.292	0.24767	T	0.682	0.44504	P	0.185	0.39516	B	0.777643	0.09496	N	0.903407	1	0.08975	N	2.125	0.59049	M	2.37	0.15964	T	-0.65	0.18877	N	0.137	0.13484	-1.0278	0.21168	T	0.004	0.01192	T	10	0.0021002889	0.00030	T	.	.	.	0.148	0.39182	.	.	0.364926071151	0.36103	0.38343039663361006	0.38258	0.15498725264	0.17506	0.252870559692	0.04075	T	0.020385	0.18113	T	-0.708661	0.00032	T	-0.660899	0.08205	T	0.00860093795093795	0.00105	T	0.868713	0.57175	D	0.079870924	0.18270	0.085157014	0.19643	0.079870924	0.18270	0.085157014	0.19642	-4.294	0.29147	T	.	.	0.091	0.15206	B	.;.;.;.	.;.;.;.	1.317535	0.17215	13.03	0.84642473707563781	0.15411	0.12276	0.17169	N	AEFBI	0.068407	0.13493	N	-0.447678809749309	0.23819	1.281816	-0.559279924328242	0.20560	1.108242	0.999724025161375	0.42220	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	6.06	2.4	0.28568	0.463000	0.21683	-0.088000	0.12093	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1676:0.2983:0.0:0.5341	3.441	0.07031	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1601.33	33	chr9	94098440	.	T	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=728;ExcessHet=0;FS=1.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.315;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	18	0	1	0
chr9	94800864	94800864	C	T	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_001193329:exon4:c.C1226T:p.T409M,AOPEP:NM_001193331:exon5:c.C1226T:p.T409M,AOPEP:NM_032823:exon5:c.C1226T:p.T409M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00287907348136	0.0002	.	8.237e-05	0	0	0.0001	0	4.495e-05	0	0.0004	7.12e-05	11	154602	rs147998277	9.44e-05	9.44e-05	7.895e-05	0.0001	0.0005	8.134e-05	7.65e-05	0.0004	0.0003	0	2.236e-05	0	5.038e-05	0	0.0003	7.644e-05	8.279e-05	0.0005	5.257e-05	5.253e-05	3.854e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.117	0.28271	T	0.296	0.23365	T	.	.	.	.	.	.	0.794633	0.06732	N	1.096300	1	0.08975	N	.	.	.	4.18	0.04746	T	0.43	0.03521	N	0.117	0.12484	-0.9264	0.44659	T	0.007	0.02360	T	10	0.030043691	0.01131	T	0.002879	0.06074	T	0.012	0.01476	.	.	0.254244900254	0.25046	0.20792221172287953	0.20708	0.233025175349	0.25843	.	.	.	.	.	.	-0.588449	0.00171	T	-0.766886	0.02872	T	0.00945679125843133	0.00122	T	0.335866	0.07168	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.06114	B	.;.;.;.;.	.;.;.;.;.	0.357671	0.07303	3.915	0.87643746076885776	0.17376	0.13354	0.17808	N	AEFGBHCI	0.051216	0.09027	N	-1.25851256904427	0.04189	0.1885685	-1.24021159550641	0.05278	0.2510745	0.999851612611884	0.44174	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.322989	0.05693	1	.	.	5.17	-0.149	0.12764	0.154000	0.16160	0.237000	0.16261	-0.089000	0.16174	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.431:0.3633:0.0772:0.1285	3.451	0.07065	638	0.64280	.;.;.;.;Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1828.33	33	chr9	94800864	.	C	T	1828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=780;ExcessHet=0;FS=3.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.495;SOR=1.036	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	95150025	95150025	T	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon7:c.A584T:p.D195V,FANCC:NM_001243743:exon7:c.A584T:p.D195V,FANCC:NM_001243744:exon7:c.A584T:p.D195V	Fanconi anemia, complementation group C, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	138044	not_provided|Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|not_specified|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0032	0.00259585	0.0031	0.0007	0.0019	0	0.0002	0.0042	0.0023	0.0037	0.0030271	468	154602	rs1800365	0.0041	0.0041	0.0040	0.0041	0.0050	0.0040	0.0039	0.0044	0.0044	0.0008	0.0028	0.0031	2.519e-05	0.0005	0.0050	0.0045	0.0051	0.0034	0.0029	0.0029	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0	0.0032	0.0035	0	0.0008	0.0068	0.0047	0.0038	0.0023	0.004	0.65419	D	0.002	0.79402	D	0.992	0.64738	D	0.971	0.72444	D	0.000168	0.48594	D	0.175698	0.999999	0.58761	D	2.395	0.69210	M	0.43	0.56772	T	-5.58	0.86450	D	0.83	0.82559	-0.5256	0.67707	T	0.231	0.59719	T	10	0.027212769	0.00872	T	.	.	.	0.417	0.72705	.	.	0.869862672899	0.86860	0.4933194370742633	0.49252	0.402927746685	0.41237	0.38103300333	0.22403	T	0.508738	0.82589	D	-0.186631	0.22754	T	-0.0371334	0.67894	D	0.028442771770713	0.01753	T	0.893711	0.71716	D	0.4535079	0.64263	0.3693059	0.62203	0.43107343	0.62823	0.41695112	0.65764	-4.396	0.29503	T	0.7128875341775482	0.79330	0.269	0.50334	B	.;.;.	.;.;.	3.822049	0.55193	23.6	0.99328517196819688	0.59661	0.87078	0.46511	D	AEFI	0.471210	0.51685	N	0.491382671950936	0.66584	4.969212	0.405209269013319	0.61888	4.395473	0.999794922023249	0.43153	0.638212	0.43195	0	0.653731	0.59785	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.77	4.77	0.60425	4.533000	0.60328	5.887000	0.50713	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.174000	0.21107	0.0:0.0:0.0:1.0	12.202	0.53640	167	0.93508	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.011364	0.02632	1985.33	35	chr9	95150025	.	T	A	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.58;SOR=0.7	GT:AD:DP:GQ:PL	0/1:74,83:157:99:1999,0,1781	18	0	1	0
chr9	95447366	95447366	C	T	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon22:c.G3734A:p.R1245Q,PTCH1:NM_000264:exon23:c.G3890A:p.R1297Q,PTCH1:NM_001083602:exon23:c.G3692A:p.R1231Q,PTCH1:NM_001083603:exon23:c.G3887A:p.R1296Q,PTCH1:NM_001083604:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083605:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083606:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083607:exon23:c.G3437A:p.R1146Q	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	50101	Gorlin_syndrome|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0788025497676	.	.	8.556e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs386833412	5.271e-05	5.336e-05	3.95e-05	6.605e-05	0.0002	4.28e-05	3.955e-05	4.7e-05	4.282e-05	2.99e-05	0	0	0	0	0.0002	5.847e-05	6.626e-05	6.958e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.543e-05	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.543e-05	0	0	0	0	1.47e-05	0.0005	0	0.315	0.13971	T	0.041	0.52389	D	0.0	0.07471	B	0.0	0.04355	B	0.549354	0.11452	N	0.790412	0.954741	0.26358	N	-0.915	0.01320	N	-2.64	0.90210	D	-0.32	0.12283	N	0.147	0.16864	-0.6655	0.62031	T	0.432	0.77368	T	10	0.032107353	0.01357	T	0.078803	0.73088	D	0.162	0.41843	0.176	0.08257	0.512421693248	0.50881	0.22248716009403194	0.22163	0.0877359232739	0.09904	0.235143080354	0.02370	T	0.248003	0.61774	T	-0.253371	0.13687	T	-0.39622	0.33825	T	0.0579169997354487	0.06836	T	0.766923	0.39491	T	0.06759498	0.14652	0.033505064	0.02258	0.07287865	0.16245	0.036771815	0.03190	-3.744	0.19970	T	.	.	0.068	0.03698	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.520437	0.19520	14.30	0.99159320477193436	0.54043	0.02621	0.07205	N	AEFDBI	0.035765	0.04658	N	-1.054797881961	0.07493	0.348302	-0.998884236434481	0.09810	0.4902579	0.999943276459394	0.47345	0.722319	0.85440	0	0.708844	0.79440	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.64	0.467	0.15933	0.147000	0.16021	0.356000	0.17526	-0.198000	0.09030	0.013000	0.18845	0.026000	0.21063	0.546000	0.30079	0.0:0.3645:0.0:0.6355	6.793	0.22892	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	446.33	51	chr9	95447366	.	C	T	446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.554;DP=720;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.343;SOR=0.518	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	95972987	95972987	A	G	exonic	ERCC6L2	.	nonsynonymous SNV	ERCC6L2:NM_001375291:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375292:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375293:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_001375294:exon16:c.A3236G:p.N1079S,ERCC6L2:NM_020207:exon16:c.A3236G:p.N1079S	Bone marrow failure syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2004032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.000857937894059	.	.	2.442e-05	0	0	0.0004	0	0	0	0	6.5e-06	1	154602	rs776307162	5.014e-06	4.104e-06	1.651e-06	8.462e-06	0.0001	1.8e-06	1.19e-06	2.13e-05	8.59e-06	0	0	0	0.0001	0	0	3.177e-06	0	1.251e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1581.33	34	chr9	95972987	.	A	G	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.107;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=1;SOR=0.675	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1595,0,1142	18	0	1	0
chr9	96417663	96417680	CCGAGGCGGCGGCGGAGG	-	exonic	ZNF367	.	nonframeshift deletion	ZNF367:NM_153695:exon1:c.353_370del:p.A118_S123del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416499041	1.973e-05	2.477e-05	1.333e-05	2.673e-05	6.403e-05	1.202e-05	9.82e-06	8.79e-06	6.94e-06	5.567e-05	0	0	4.322e-05	0	0	1.648e-05	5.694e-05	6.403e-05	1.986e-05	2.628e-05	1.293e-05	2.714e-05	0.0002	5.28e-06	2.47e-06	.	.	0	0	6.59e-05	0	0.0002	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	56.39	7	chr9	96417662	.	CCCGAGGCGGCGGCGGAGG	C	56.39	.	AC=1;AF=0.029;AN=34;DP=148;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.0491;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=8.06;SOR=0.027	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,342	16	0	1	2
chr9	96458500	96458500	G	C	exonic	HABP4	.	nonsynonymous SNV	HABP4:NM_014282:exon2:c.G471C:p.E157D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0122702279716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308734002	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.18691	T	0.336	0.18232	T	0.518	0.68779	P	0.147	0.56828	B	0.000001	0.84330	D	0.053759	0.995038	0.42516	D	1.935	0.51832	L	0.18	0.60361	T	-0.46	0.27463	N	0.227	0.29544	-0.8840	0.49440	T	0.168	0.50681	T	10	0.1666584	0.31115	T	0.01227	0.30692	T	0.060	0.17295	0.243	0.17677	0.831545333466	0.82994	0.0992486165549923	0.09855	0.851093422288	0.68531	0.451491296291	0.32147	T	0.095016	0.39534	T	-0.119918	0.33136	T	-0.41003	0.32223	T	0.395859062671661	0.28786	T	0.683432	0.29668	T	0.10740186	0.25395	0.08029262	0.18149	0.10740186	0.25395	0.08029262	0.18149	-4.424	0.29880	T	.	.	0.103	0.18289	B	.;.	.;.	3.065555	0.41183	21.3	0.98460076568883503	0.41734	0.78139	0.38507	D	AEFDBI	0.254964	0.37418	N	-0.000824271310023439	0.41818	2.508175	0.0148608270531719	0.40404	2.410733	0.986416180510624	0.31059	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.43	3.53	0.39533	1.354000	0.33660	6.140000	0.54039	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.506000	0.29152	0.257:0.0:0.5285:0.2144	2.910	0.05381	724	0.55085	.;Intracellular hyaluronan-binding protein 4, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	33	chr9	96458500	.	G	C	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.396;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr9	96565435	96565435	T	C	exonic	CDC14B	.	nonsynonymous SNV	CDC14B:NM_001077181:exon2:c.A98G:p.N33S,CDC14B:NM_001351567:exon2:c.A209G:p.N70S,CDC14B:NM_001351568:exon2:c.A98G:p.N33S,CDC14B:NM_001351569:exon2:c.A98G:p.N33S,CDC14B:NM_001351570:exon2:c.A140G:p.N47S,CDC14B:NM_003671:exon2:c.A209G:p.N70S,CDC14B:NM_033331:exon2:c.A209G:p.N70S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00307341393614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.32769	T	0.161	0.35205	T	0.046	0.21875	B	0.014	0.18489	B	0.000004	0.62929	D	0.101574	0.522944	0.31912	D	.	.	.	0.89	0.45636	T	-2.54	0.55821	D	0.254	0.28732	-1.0504	0.14285	T	0.059	0.24686	T	10	0.20939589	0.37301	T	0.003073	0.06636	T	0.081	0.23632	0.328	0.31196	0.58666542446	0.58340	0.08828629473875149	0.08761	0.247669693122	0.27324	0.560800433159	0.47381	T	0.301178	0.67364	T	-0.143986	0.29257	T	-0.444602	0.28294	T	0.528934717178345	0.33695	D	0.928407	0.73561	D	0.386294	0.59768	0.20312022	0.44373	0.386294	0.59768	0.20312022	0.44372	-6.485	0.51138	T	.	.	0.066	0.02548	B	.;.;.;.;.	.;.;.;.;.	2.387733	0.30655	18.50	0.97435619955907449	0.33951	0.77819	0.38308	D	AEFDBI	0.194911	0.32197	N	-0.325367147968584	0.28187	1.552683	-0.177018128955098	0.32383	1.841842	0.999936694076106	0.46732	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	4.26	3.11	0.34883	2.813000	0.47701	1.852000	0.29263	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3024:0.0:0.6976	5.719	0.17246	863	0.32847	Dual specificity/tyrosine protein phosphatase, N-terminal;.;.;.;Dual specificity/tyrosine protein phosphatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	36	chr9	96565435	.	T	C	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.685;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.436;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	0	1	0
chr9	96818687	96818688	CT	-	exonic	ZNF782	.	frameshift deletion	ZNF782:NM_001346993:exon4:c.1263_1264del:p.K424Tfs*6,ZNF782:NM_001346995:exon4:c.939_940del:p.K316Tfs*6,ZNF782:NM_001346991:exon5:c.1335_1336del:p.K448Tfs*6,ZNF782:NM_001001662:exon6:c.1335_1336del:p.K448Tfs*6	.	375	1145	2	0	0	2	0.0008726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	0	0	0	0.0008	0.0001	0.0011	0	9.06e-05	14	154602	rs767445475	0.0001	0.0001	9.665e-05	0.0001	0.0007	8.982e-05	8.465e-05	0.0002	0.0001	8.961e-05	0	0	0	0.0008	0.0007	7.734e-05	0.0002	4.637e-05	9.203e-05	9.195e-05	7.71e-05	0.0001	4.833e-05	5.53e-05	4.367e-05	8.01e-06	3e-06	4.833e-05	0	0	0	0	0.0009	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	3248.29	35	chr9	96818686	.	CCT	C	3248.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.83;DP=862;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.51;ReadPosRankSum=-0.781;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1365	18	0	1	0
chr9	96937970	96937970	T	G	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon6:c.T1409G:p.L470R,NUTM2G:NM_001170741:exon6:c.T1409G:p.L470R	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0023	0.00119808	0.0039	0.0003	0.0019	0	0.0181	0.0048	0.0067	6.056e-05	0.0002523	39	154602	rs200205157	0.0039	0.0039	0.0041	0.0038	0.0041	0.0038	0.0038	0.0040	0.0039	0.0004	0.0027	0.0003	0	0.0164	0.0005	0.0041	0.0034	2.321e-05	0.0036	0.0036	0.0032	0.0040	0.0042	0.0033	0.0032	0.0038	0.0036	0.0006	0	0.0024	0.0006	0	0.0178	0.0034	0.0042	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000863	0.41335	D	0.000000	1	0.08975	N	3.28	0.90206	M	0.78	0.49358	T	-5.5	0.86372	D	0.624	0.63883	-0.9112	0.46707	T	0.232	0.59867	T	10	0.009914875	0.00222	T	.	.	.	0.155	0.40530	.	.	0.1749357433	0.17121	0.32964116292199647	0.32877	.	.	0.637623310089	0.58226	T	0.201461	0.55934	T	-0.349771	0.04742	T	-0.274932	0.47320	T	0.0923245628663899	0.11490	T	0.929907	0.74113	D	0.7064868	0.78413	0.4916801	0.70595	0.7064868	0.78415	0.4916801	0.70596	-11.653	0.87778	D	.	.	0.519	0.69747	A	.;.	.;.	3.552408	0.49947	22.9	0.99595118076401301	0.73866	0.21538	0.21437	N	AEFDGCI	0.041625	0.06352	N	0.0175747868478578	0.42655	2.574144	-0.250242624968192	0.29763	1.670169	6.03504073944484E-5	0.04171	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	1.01	1.01	0.19044	2.331000	0.43552	4.004000	0.41101	-0.377000	0.05411	0.780000	0.29473	0.729000	0.26404	0.004000	0.06068	0.0:0.0:0.0:1.0	4.305	0.10388	803	0.44167	.;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002237	0.011364	0.000000	0.000000	0.000000	0.000000	0.006579	0.000000	0.02632	1796.33	33	chr9	96937970	.	T	G	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=795;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.54;MQRankSum=-2.072;QD=11.66;ReadPosRankSum=0.756;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1405	18	0	1	0
chr9	96938649	96938649	C	T	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.C1726T:p.R576W	.	.	.	.	.	.	.	.	.	.	.	3352633	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000673097079306	.	.	2.57e-05	0	8.737e-05	0.0003	0	0	0	0	6.5e-06	1	154602	rs746492002	2.332e-05	2.394e-05	2.457e-05	2.206e-05	0.0008	1.679e-05	1.481e-05	0.0005	0.0005	0	4.478e-05	0	0.0008	0	0	1.799e-06	0	1.166e-05	1.376e-05	2.658e-05	1.343e-05	1.411e-05	2.76e-05	2.29e-06	8.6e-07	.	.	2.76e-05	0	0	0	0	0	0	1.472e-05	0	0	0.115	0.28520	T	0.04	0.50809	D	.	.	.	.	.	.	0.001209	0.00754	N	3.662470	1	0.08975	N	1.89	0.50145	L	2.69	0.12268	T	-1.4	0.34596	N	0.126	0.11912	-1.0042	0.28696	T	0.042	0.18243	T	8	0.10288501	0.18883	T	6.73E-4	0.00383	T	0.038	0.09825	0.233	0.16155	0.0611884634855	0.05136	0.06637109803591172	0.06575	.	.	0.458318591118	0.33080	T	0.005788	0.05238	T	-0.533426	0.00367	T	-0.707813	0.05409	T	0.0919737008652168	0.11449	T	0.40156	0.10241	T	0.05277036	0.09890	0.03387095	0.02356	0.05277036	0.09890	0.03387095	0.02356	-5.354	0.40474	T	.	.	0.071	0.04002	B	.	.	1.503111	0.19320	14.20	0.92167075168004686	0.21531	0.00254	0.01397	N	AEFDGI	0.047319	0.07954	N	-0.685482654150287	0.16435	0.8373123	-0.9120882072202	0.11808	0.6038563	5.93015779520183E-5	0.04171	0.475973	0.10046	0	0.550933	0.16991	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	0.845	0.845	0.18089	-0.457000	0.06821	-20.000000	0.00162	0.408000	0.20627	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	5.089	0.14033	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2667.33	42	chr9	96938649	.	C	T	2667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=935;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.61;MQRankSum=0.83;QD=13.2;ReadPosRankSum=-1.222;SOR=0.566	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2681,0,2213	18	0	1	0
chr9	97318498	97318498	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon10:c.C995T:p.P332L,CCDC180:NM_001348010:exon11:c.C986T:p.P329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0003	0.000998403	0.0015	0	8.664e-05	0	0.0129	0.0014	0.0022	6.058e-05	0.0012354	191	154602	rs200586749	0.0008	0.0008	0.0008	0.0008	0.0005	0.0007	0.0007	0.0004	0.0004	2.987e-05	0.0004	0.0011	0	0.0106	0.0005	0.0004	0.0008	9.276e-05	0.0011	0.0011	0.0008	0.0015	0.0005	0.0010	0.0009	0.0004	0.0003	4.813e-05	0	0.0005	0.0017	0	0.0112	0	0.0005	0.0009	0	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.008283	0.30918	N	0.314541	0.575714	0.54805	D	.	.	.	1.73	0.26445	T	-5.1	0.83027	D	0.275	0.31140	-0.9354	0.43333	T	0.070	0.28740	T	10	0.006398231	0.00145	T	.	.	.	0.099	0.28413	.	.	0.15556083564	0.15200	0.10924713121121508	0.10853	.	.	0.327434778214	0.14547	T	.	.	.	-0.495226	0.00608	T	-0.508762	0.21443	T	0.0784568993442058	0.09788	T	0.654634	0.26482	T	0.0964422	0.22717	0.10467975	0.25147	0.0964422	0.22716	0.10467975	0.25147	-2.664	0.07006	T	.	.	0.092	0.13409	B	.	.	2.151279	0.27404	17.45	0.90723123532000038	0.19973	0.13416	0.17844	N	AEFDI	0.067699	0.13321	N	-0.887088996964201	0.11149	0.5364713	-0.937369495670433	0.11217	0.570103	0.907815275389427	0.26268	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.61	2.78	0.31702	0.683000	0.25029	0.158000	0.15372	-0.837000	0.02821	0.158000	0.23769	0.000000	0.08366	0.002000	0.04165	0.1708:0.7373:0.0:0.0919	6.708	0.22449	788	0.46569	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	619.33	33	chr9	97318498	.	C	T	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.289;DP=690;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.284;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1260	18	0	1	0
chr9	97473502	97473502	T	C	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon10:c.T1733C:p.M578T,TDRD7:NM_014290:exon11:c.T1955C:p.M652T	Cataract 36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00682525111454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	0.05420	T	0.577	0.08594	T	0.0	0.02946	B	0.001	0.04355	B	0.000481	0.43931	N	0.284737	1	0.81001	D	-0.695	0.01866	N	2.99	0.09262	T	-0.91	0.24460	N	0.247	0.27910	-1.0347	0.18951	T	0.023	0.09650	T	10	0.11927351	0.22568	T	0.006825	0.18037	T	0.056	0.15993	0.499	0.58991	0.223146558224	0.21909	0.3073691724872469	0.30649	0.187157546737	0.21028	0.383176594973	0.22706	T	0.106116	0.41718	T	-0.225597	0.17235	T	-0.561831	0.16206	T	0.613756358623505	0.36952	D	0.656934	0.26653	T	0.07161479	0.15869	0.08137132	0.18488	0.07161479	0.15869	0.08137132	0.18487	-5.994	0.46229	T	.	.	0.082	0.08512	B	.	.	2.390496	0.30700	18.52	0.97661670722745531	0.35201	0.74017	0.36204	D	AEFBI	0.158253	0.28389	N	-0.40118977878069	0.25428	1.38024	-0.25764428601917	0.29509	1.653799	0.998525921531697	0.37129	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	2.024000	0.40670	5.039000	0.46894	0.609000	0.47794	0.967000	0.34061	1.000000	0.68203	0.945000	0.48827	0.0:0.1894:0.0:0.8106	6.819	0.23029	809	0.43032	Tudor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1262.33	35	chr9	97473502	.	T	C	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=726;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.537;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	18	0	1	0
chr9	97854413	97854424	GCCGCAGCCGCC	-	exonic	FOXE1	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.499_510del:p.A176_A179del	Bamforth-Lazarus syndrome, Autosomal recessive	44	1457	20	1	0	22	0.00749319	.	.	.	3203946	not_specified|FOXE1-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0111	.	0.0111	0.0013	0.0349	0.0004	0.0232	0.0089	0.0070	0.0115	0.0006916	18	26028	rs762571620	0.0064	0.0059	0.0063	0.0065	0.0189	0.0063	0.0062	0.0167	0.0159	0.0012	0.0189	0.0058	0.0007	0.0166	0.0047	0.0062	0.0075	0.0084	0.0110	0.0076	0.0103	0.0117	0.0228	0.0104	0.0102	0.0203	0.0193	0.0030	0.1736	0.0228	0.0079	0.0052	0.0232	0.0058	0.0083	0.0055	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	671.76	14	chr9	97854412	.	TGCCGCAGCCGCC	T	671.76	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.155;DP=546;ExcessHet=0;FS=0;InbreedingCoeff=-0.046;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=1.57;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:65:.:.:0,65,582:.	17	0	1	1
chr9	97854418	97854424	AGCCGCC	0	exonic	FOXE1	.	.	.	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	6078.44	13	chr9	97854418	.	AGCCGCC	*	6078.44	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.272;DP=493;ExcessHet=1.076;FS=1.222;InbreedingCoeff=-0.0176;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=27.5;ReadPosRankSum=0.489;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:12:99:.:.:145,169,505:.	17	0	1	1
chr9	97910062	97910062	G	A	exonic	TRMO	.	nonsynonymous SNV	TRMO:NM_001371661:exon3:c.C526T:p.R176C,TRMO:NM_001371657:exon4:c.C964T:p.R322C,TRMO:NM_001371658:exon4:c.C964T:p.R322C,TRMO:NM_001371659:exon4:c.C742T:p.R248C,TRMO:NM_001371660:exon4:c.C526T:p.R176C,TRMO:NM_016481:exon4:c.C964T:p.R322C,TRMO:NM_001330725:exon5:c.C526T:p.R176C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00184945792955	.	.	8.252e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs748977487	1.027e-05	1.026e-05	9.532e-06	1.101e-05	0.0002	6.17e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	2.52e-05	0	0.0002	6.299e-06	0	6.957e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.202	0.21968	T	0.192	0.29540	T	0.0	0.02946	B	0.0	0.01387	B	0.055501	0.02073	N	1.762110	1	0.08975	N	.	.	.	0.93	0.44065	T	0.58	0.04776	N	0.074	0.04790	-1.0063	0.28065	T	0.037	0.15986	T	10	0.062455744	0.07987	T	0.001849	0.03219	T	0.012	0.01476	.	.	0.0762999501168	0.06990	0.22718224281291777	0.22633	0.170774591595	0.19242	.	.	.	0.003473	0.04103	T	-0.444101	0.01223	T	-0.778843	0.02488	T	0.0381384393309724	0.03357	T	0.236176	0.03286	T	0.02521314	0.01434	0.020599617	0.00144	0.02521314	0.01433	0.020599617	0.00144	-4.241	0.27341	T	.	.	0.063	0.02145	B	.;.	.;.	-1.255766	0.00477	0.010	0.49025328435998877	0.04140	0.00617	0.02730	N	AEFBI	0.025161	0.01680	N	-2.10123137172589	0.00127	0.005454469	-2.18567089141788	0.00120	0.005295629	0.999999999999887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.5	-9.0	0.00641	-1.762000	0.01902	-6.375000	0.01416	-2.842000	0.00175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4611:0.2301:0.2319:0.0769	4.14	0.09657	593	0.68665	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2173.33	47	chr9	97910062	.	G	A	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=791;ExcessHet=0;FS=5.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=-1.33;SOR=0.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr9	98826819	98826819	C	A	exonic	GALNT12	.	nonsynonymous SNV	GALNT12:NM_024642:exon3:c.C609A:p.N203K	.	415	1102	5	0	0	5	0.00226347	.	.	.	475220	Colorectal_cancer,_susceptibility_to,_1|not_specified|not_provided	MONDO:MONDO:0012132,MedGen:C1837315,OMIM:608812|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00768321348977	7.7e-05	.	9.214e-05	0	0.0002	0	0	5.476e-05	0.0015	0.0002	6.47e-05	10	154602	rs370024536	3.288e-05	3.489e-05	2.044e-05	4.545e-05	0.0003	2.547e-05	2.252e-05	0.0002	0.0002	0	2.24e-05	0	0	0	0.0002	1.349e-05	3.319e-05	0.0003	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.75	0.03587	T	1.0	0.01155	T	0.454	0.36182	P	0.138	0.33406	B	0.026203	0.25958	N	0.500926	0.808225	0.29033	N	-0.475	0.02701	N	0.39	0.57419	T	-0.59	0.17624	N	0.323	0.36359	-1.0033	0.28963	T	0.047	0.19998	T	10	0.05025664	0.04731	T	0.007683	0.20378	T	0.096	0.27654	0.535	0.64439	0.489449420884	0.48578	0.27330403995605057	0.27243	0.249740175595	0.27555	0.318578243256	0.13206	T	0.010258	0.09278	T	-0.415403	0.01831	T	-0.570045	0.15446	T	0.0523881878896073	0.05915	T	0.847115	0.52772	T	0.14200556	0.32698	0.05513037	0.09611	0.14200556	0.32698	0.05513037	0.09610	-2.527	0.05969	T	0.10858259562300897	0.08969	0.083	0.09094	B	.	.	1.953689	0.24815	16.54	0.95868045775168487	0.28038	0.16886	0.19593	N	AEFDBI	0.100411	0.20191	N	-0.611876540908084	0.18587	0.9661562	-0.469027072553572	0.23011	1.252795	0.993747890654381	0.33337	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.96	3.91	0.44383	-0.142000	0.10293	1.772000	0.28642	0.599000	0.40250	0.009000	0.18154	0.881000	0.27706	0.328000	0.25156	0.0:0.664:0.0:0.336	5.186	0.14510	850	0.35610	Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1155.33	35	chr9	98826819	.	C	A	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=732;ExcessHet=0;FS=5.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.724;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	18	0	1	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R	.	422	1055	45	0	0	45	0.0208817	.	.	.	3210553	COL15A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017154	0.015306	0.014946	0.011696	0.050000	0.000000	0.024540	0.030303	0.02632	1956.33	34	chr9	99054627	.	A	G	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=809;ExcessHet=0;FS=1.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.59;SOR=0.542	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1333	18	0	1	0
chr9	99056352	99056352	-	GGGCCACCG	exonic	COL15A1	.	nonframeshift insertion	COL15A1:NM_001855:exon35:c.3285_3286insGGGCCACCG:p.P1107_A1108insGPP	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.35e-06	9.891e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs774095602	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0001	6.4e-07	4.3e-07	3.983e-05	2.373e-05	0.0001	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	3.855e-05	0	7.242e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	354.29	34	chr9	99056352	.	T	TGGGCCACCG	354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=629;ExcessHet=0;FS=3.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.931;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	18	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	69.14	116	chr9	99218703	.	C	T	69.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.286;DP=1530;ExcessHet=0.119;FS=143.279;InbreedingCoeff=-0.105;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.665;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,14:116:9:0|1:99218703_C_T:9,0,3301:99218703	14	0	2	3
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.76	99	chr9	100442207	.	G	A	252.76	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.802;DP=1344;ExcessHet=0.119;FS=260.498;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.51;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:69:.:.:0,69,1701:.	12	0	2	5
chr9	100442209	100442209	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G271A:p.E91K,MSANTD3:NM_001198805:exon2:c.G271A:p.E91K,MSANTD3:NM_001198806:exon2:c.G271A:p.E91K,MSANTD3:NM_001198807:exon2:c.G271A:p.E91K,MSANTD3:NM_080655:exon2:c.G271A:p.E91K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0055681647514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301280836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.626e-06	6.589e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.011	0.55530	D	0.068	0.44106	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991125	0.41313	D	0.345	0.11182	N	.	.	.	-1.85	0.43334	N	0.659	0.66873	-0.9302	0.44109	T	0.162	0.49831	T	8	0.362716	0.52860	T	0.005568	0.14379	T	0.334	0.65620	0.24	0.17218	0.128392430309	0.12331	0.7185358234044404	0.71796	0.53005267504	0.50556	0.852187097073	0.89944	D	0.250845	0.62101	T	0.312691	0.83945	D	0.211382	0.83736	D	0.699628472328186	0.40701	D	0.952805	0.82399	D	0.24373437	0.47315	0.28995815	0.55017	0.24373437	0.47315	0.28995815	0.55017	-7.936	0.64410	D	.	.	0.624	0.83259	P	.;.;.;.;.;.	.;.;.;.;.;.	4.205833	0.63499	24.6	0.99816656266768622	0.89973	0.96187	0.67934	D	AEFDBHIJ	0.810217	0.73352	D	-0.0997318424787354	0.37404	2.175666	0.111830775840215	0.45151	2.783557	0.999999923427681	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.802000	0.74964	9.928000	0.82558	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1345:0.8655:0.0	16.026	0.80343	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	245.35	102	chr9	100442209	.	G	A	245.35	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.927;DP=1332;ExcessHet=0.119;FS=263.72;InbreedingCoeff=-0.2473;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.431;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:16:.:.:0,16,1683:.	7	0	1	11
chr9	100442221	100442221	C	T	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.C283T:p.R95W,MSANTD3:NM_001198805:exon2:c.C283T:p.R95W,MSANTD3:NM_001198806:exon2:c.C283T:p.R95W,MSANTD3:NM_001198807:exon2:c.C283T:p.R95W,MSANTD3:NM_080655:exon2:c.C283T:p.R95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00563154887525	.	.	8.291e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs750365142	6.157e-06	6.156e-06	6.806e-06	5.5e-06	7.194e-06	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	0	6.579e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.052	0.52389	T	0.988	0.62325	D	0.265	0.39681	B	.	.	.	.	0.90789	0.27569	N	0.695	0.17993	N	.	.	.	-1.78	0.47008	N	0.706	0.70966	-1.0418	0.16770	T	0.061	0.25635	T	8	0.34567094	0.51536	T	0.005632	0.14560	T	0.156	0.40720	0.353	0.35246	0.134241683229	0.13084	0.7252639514832134	0.72470	0.815294741634	0.66906	0.786744832993	0.79947	T	0.258377	0.62952	T	0.314384	0.84068	D	0.229301	0.84636	D	0.672388017177582	0.39444	D	0.947605	0.79780	D	0.0708827	0.15649	0.12827657	0.30864	0.0708827	0.15649	0.12827657	0.30863	-7.774	0.62479	D	.	.	0.187	0.56205	B	.;.;.;.;.;.	.;.;.;.;.;.	4.229598	0.64035	24.7	0.99878034798813986	0.95491	0.85844	0.45024	D	AEFDBHIJ	0.530434	0.55113	D	0.295792047234883	0.55936	3.75765	0.381795895160731	0.60444	4.231924	0.999998074356502	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.0	0.66209	2.823000	0.47781	1.446000	0.26567	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.2475:0.7525:0.0:0.0	14.080	0.64440	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	788.33	93	chr9	100442221	.	C	T	788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.3;DP=1094;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.347;SOR=0.916	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,101,1800	18	0	1	0
chr9	101312823	101312823	C	T	exonic	PLPPR1	.	nonsynonymous SNV	PLPPR1:NM_017753:exon6:c.C662T:p.T221M,PLPPR1:NM_207299:exon6:c.C662T:p.T221M	.	.	.	.	.	.	.	.	.	.	.	2388890	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.380	0.0976784921709	7.7e-05	.	5.775e-05	9.615e-05	0	0.0001	0.0002	3.004e-05	0	0.0001	4.53e-05	7	154602	rs200667385	4.994e-05	5.062e-05	4.492e-05	5.5e-05	0.0003	4.059e-05	3.734e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.047e-05	4.967e-05	0.0003	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.242e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	4.411e-05	0	0	0.025	0.47320	D	0.16	0.31427	T	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.92	0.75108	T	-1.92	0.44657	N	0.869	0.86725	-0.0640	0.80908	T	0.565	0.84189	D	10	0.82285213	0.81479	D	0.097678	0.76814	D	0.380	0.69780	.	.	0.68047775509	0.67775	0.734329120507651	0.73377	1.51991440881	0.87402	0.851043999195	0.89772	D	0.523908	0.83401	D	0.0260067	0.55189	T	0.0917292	0.76361	D	0.150682774758692	0.17158	T	0.90391	0.66280	D	0.16805206	0.37240	0.1857081	0.41700	0.16805206	0.37239	0.1857081	0.41699	-6.812	0.52648	T	.	.	0.154	0.33981	B	.;.	.;.	5.618446	0.92587	32	0.99901520719445625	0.97350	0.98293	0.81337	D	AEFDGBCI	0.927240	0.90958	D	0.65924852648913	0.76968	6.585246	0.703750158297404	0.82665	7.823235	1.0	0.98316	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	7.530000	0.80856	4.894000	0.45793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	19.348	0.94358	893	0.26510	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase;Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	35	chr9	101312823	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=700;ExcessHet=0;FS=5.42;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.57;SOR=1.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1429	18	0	1	0
chr9	101476684	101476684	C	T	exonic	PGAP4	.	nonsynonymous SNV	PGAP4:NM_001303108:exon2:c.G409A:p.E137K,PGAP4:NM_001371233:exon2:c.G409A:p.E137K,PGAP4:NM_032342:exon2:c.G409A:p.E137K,PGAP4:NM_001303107:exon3:c.G409A:p.E137K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00103022996019	.	0.00119808	0.0003	0	8.64e-05	0.0044	0	4.504e-05	0	0	0.0003363	52	154602	rs145638335	0.0003	0.0003	0.0003	0.0003	0.0088	0.0002	0.0002	0.0080	0.0077	2.987e-05	0.0001	0	0.0088	1.873e-05	0.0005	1.619e-05	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0045	0.0001	9.697e-05	0.0030	0.0026	0	0	0	0	0.0045	0	0	0	0.0005	0.0002	0.404	0.10345	T	0.636	0.07059	T	0.142	0.27621	B	0.024	0.20255	B	0.006702	0.31850	N	0.325524	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.43	0.14390	N	0.274	0.31027	-1.0698	0.09458	T	0.019	0.07753	T	9	0.0061312616	0.00138	T	0.00103	0.01144	T	0.166	0.42578	.	.	0.191931220699	0.18833	0.2590805443844159	0.25822	0.459465389493	0.45526	0.47450119257	0.35301	T	0.011367	0.10151	T	-0.443119	0.01240	T	-0.410759	0.32138	T	0.0354023799997899	0.02877	T	0.774123	0.40598	T	0.05027932	0.09058	0.057595994	0.10497	0.05027932	0.09058	0.057595994	0.10497	-3.523	0.16755	T	.	.	0.061	0.01092	B	.;.;.	.;.;.	3.291833	0.45147	22.1	0.98675759464784552	0.44539	0.64098	0.32298	D	AEFBI	0.278756	0.39297	N	-0.292758115358377	0.29426	1.63177	-0.0895428537116108	0.35821	2.07701	0.999304429684321	0.39077	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.81	3.87	0.43823	2.653000	0.46355	2.852000	0.35147	0.599000	0.40250	0.569000	0.27497	0.996000	0.32793	0.892000	0.42986	0.1345:0.5616:0.2139:0.0901	4.004	0.09083	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2595.33	42	chr9	101476684	.	C	T	2595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=863;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.333;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	18	0	1	0
chr9	101594840	101594840	-	A	exonic	PPP3R2	.	stopgain	PPP3R2:NM_147180:exon1:c.81dupT:p.K28*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.867e-07	6.84e-07	1.367e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2000.29	34	chr9	101594840	.	T	TA	2000.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.123;SOR=0.738	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	101687005	101687005	C	T	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon2:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0310987573351	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs375779429	2.052e-05	2.052e-05	2.042e-05	2.063e-05	2.519e-05	1.456e-05	1.264e-05	1.543e-05	1.304e-05	0	2.236e-05	0	2.519e-05	0	0	2.248e-05	3.311e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.821	0.02951	T	0.523	0.10354	T	0.001	0.07471	B	0.0	0.01387	B	0.201160	0.16597	N	0.625388	0.999986	0.18198	N	0.205	0.09354	N	-2.16	0.86549	D	0.25	0.04456	N	0.056	0.02759	-0.8543	0.51668	T	0.325	0.69350	T	10	0.05905348	0.07038	T	0.031099	0.53261	D	0.151	0.39764	0.449	0.50957	0.570510961217	0.56716	0.4252962968889608	0.42446	0.119995550461	0.13513	0.249031424522	0.03666	T	0.024573	0.18544	T	-0.310034	0.07745	T	-0.513991	0.20907	T	0.0144451577537581	0.00292	T	0.673733	0.28234	T	0.031390455	0.02970	0.04814477	0.07087	0.031390455	0.02969	0.04814477	0.07087	-2.921	0.09355	T	.	.	0.064	0.01692	B	.	.	0.514050	0.08831	5.607	0.39115173146473792	0.02679	0.05876	0.11824	N	AEFI	0.052981	0.09506	N	-1.02664660271501	0.08054	0.3762815	-0.957354251568181	0.10752	0.543593	1.17202034090743E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	-0.00495	0.13342	0.031000	0.13598	-0.560000	0.08482	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.973000	0.55318	0.0:0.6671:0.0:0.3329	10.482	0.43885	893	0.26510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2295.33	174	chr9	101687005	.	C	T	2295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1137;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.059;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	103005548	103005548	A	G	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.A917G:p.K306R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00410971548035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.03335	T	0.021	0.58089	D	1.0	0.90584	D	0.998	0.88582	D	0.160461	0.17680	N	0.473004	1	0.08975	N	2.25	0.63811	M	2.22	0.18248	T	-1.71	0.40660	N	0.137	0.13484	-1.0656	0.10409	T	0.058	0.24391	T	10	0.1226393	0.23268	T	0.00411	0.09838	T	0.103	0.29403	0.192	0.10304	0.467416895013	0.46368	1.5698979288171372E-5	0.00001	0.00259996021743	0.00224	0.354781031609	0.18623	T	0.066649	0.32998	T	-0.278413	0.10837	T	-0.637697	0.09839	T	0.205126076936722	0.20695	T	0.332267	0.06988	T	0.032900065	0.03403	0.05241765	0.08632	0.032900065	0.03403	0.05241765	0.08632	-7.78	0.59561	D	.	.	0.153	0.33891	B	.;.;.	.;.;.	0.988684	0.13663	10.20	0.56397751151971287	0.05543	0.06150	0.12131	N	AEFGI	0.058354	0.10943	N	-0.242103429347292	0.31419	1.761592	-0.392269248977954	0.25225	1.386017	0.00729671495788341	0.11431	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	-0.113000	0.10745	2.079000	0.30484	-0.111000	0.15049	0.000000	0.06391	0.143000	0.23109	0.010000	0.09038	1.0:0.0:0.0:0.0	10.007	0.41135	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2096.33	34	chr9	103005548	.	A	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=897;ExcessHet=0;FS=1.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.94;SOR=0.566	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr9	104505139	104505139	C	T	exonic	OR13F1	.	nonsynonymous SNV	OR13F1:NM_001004485:exon1:c.C877T:p.R293W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0215361951138	0.0006	0.000399361	0.0007	0.0003	0.0009	0	0.0002	0.0009	0	0.0005	0.0006209	96	154602	rs7858601	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0007	0	0	1.872e-05	0.0002	0.0013	0.0008	0.0004	0.0007	0.0007	0.0006	0.0008	0.0011	0.0006	0.0005	0.0009	0.0009	0.0003	0	0.0007	0	0	0	0.0034	0.0011	0.0019	0	0.0	0.91255	D	0.0	0.92824	D	0.746	0.43152	P	0.176	0.35644	B	0.008248	0.30938	N	0.137977	0.894193	0.27825	N	3.655	0.94224	H	1.01	0.41058	T	-7.04	0.93833	D	0.305	0.34444	-0.9685	0.37510	T	0.095	0.35924	T	10	0.051144093	0.04951	T	0.021536	0.44322	T	0.238	0.54217	.	.	0.563764762904	0.56040	0.46101114426472356	0.46019	0.0361862173451	0.03821	0.183816432953	0.00134	T	0.015665	0.13095	T	-0.233937	0.16132	T	-0.159251	0.58420	T	0.150863392014762	0.17172	T	0.909109	0.67839	D	0.6820527	0.77080	0.69702595	0.82158	0.6820527	0.77081	0.69702595	0.82159	-9.934	0.73516	D	.	.	0.125	0.26294	B	.	.	1.642467	0.20964	14.99	0.97592789339742159	0.34803	0.27258	0.23226	N	AEFI	0.393061	0.47086	N	-0.39663860803877	0.25589	1.390164	-0.498262819328438	0.22202	1.20473	1.32984145786833E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.3	-1.02	0.09618	-0.221000	0.09208	-14.875000	0.00382	-1.897000	0.00527	0.002000	0.15269	0.000000	0.08366	0.841000	0.39698	0.551:0.281:0.0:0.168	5.212	0.14645	596	0.68392	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1134.33	99	chr9	104505139	.	C	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=815;ExcessHet=0;FS=2.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.025;SOR=1.003	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	104526806	104526806	A	T	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.T404A:p.I135N	.	421	1100	1	0	0	1	0.000454339	.	.	.	3366992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00930880464173	0.0002	0.000199681	0.0003	0	0	0	0.0002	0.0002	0	0.0011	0.0002652	41	154602	rs141868239	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0007	0.0007	2.987e-05	2.236e-05	0.0031	0	1.872e-05	0.0003	6.385e-05	0.0003	0.0009	0.0001	0.0001	0.0001	0.0001	0.0004	9.142e-05	7.699e-05	7.299e-05	3.032e-05	2.405e-05	0	0	0.0032	0	0.0003	0	4.409e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.849	0.60615	P	0.006283	0.32136	N	0.138558	0.837762	0.28673	N	3.105	0.87672	M	4.42	0.02177	T	-6.47	0.91479	D	0.541	0.56833	-1.1091	0.03148	T	0.029	0.12234	T	10	0.11351484	0.21328	T	0.009309	0.24436	T	0.059	0.16972	.	.	0.63623802299	0.63324	0.3762983365719593	0.37543	0.0441939372007	0.04768	0.278370380402	0.07266	T	0.038504	0.24863	T	-0.415172	0.01837	T	-0.44713	0.28014	T	0.298877268189024	0.24957	T	0.769523	0.39899	T	0.6546186	0.75610	0.6614505	0.80161	0.6546186	0.75611	0.6614505	0.80162	-8.426	0.63938	D	.	.	0.355	0.56876	A	.	.	3.488252	0.48748	22.7	0.98993040677702471	0.49983	0.84078	0.43163	D	AEFBI	0.400220	0.47519	N	0.142855486353237	0.48473	3.059268	-0.0789674530223191	0.36260	2.107996	0.00617817106220788	0.11148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	3.27	0.36580	2.911000	0.48472	1.887000	0.29491	0.686000	0.82685	0.789000	0.29582	0.460000	0.24998	0.027000	0.12703	0.8295:0.0:0.0:0.1705	8.695	0.33448	635	0.64580	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2541.33	34	chr9	104526806	.	A	T	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.601;DP=815;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.725;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr9	104526875	104526875	C	T	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.G335A:p.C112Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00743548367545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053644813	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	0.972	0.57405	D	0.852	0.60758	P	0.000096	0.51296	U	0.000000	0.889604	0.27906	N	2.44	0.70756	M	4.44	0.02139	T	-10.51	0.99062	D	0.53	0.55886	-1.1503	0.01016	T	0.031	0.13418	T	10	0.56585586	0.65046	D	0.007435	0.19712	T	0.104	0.29647	0.473	0.54859	0.760176033963	0.75799	0.42507608427685806	0.42424	0.053570767837	0.05910	0.321983456612	0.13722	T	0.033444	0.22914	T	-0.167845	0.25562	T	-0.478874	0.24565	T	0.997622907161713	0.92012	D	0.839416	0.51368	T	0.81768805	0.85065	0.7793302	0.86988	0.81768805	0.85066	0.7793302	0.86989	-7.184	0.55366	T	.	.	0.373	0.58017	A	.	.	3.803364	0.54811	23.5	0.98615176242537306	0.43691	0.33558	0.24857	N	AEFGBI	0.125617	0.24219	N	0.367188230024314	0.59652	4.146511	0.229021963468817	0.51463	3.328712	0.00159563887656747	0.08681	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	-0.515000	0.06375	1.502000	0.26963	0.545000	0.25583	0.000000	0.06391	0.759000	0.26609	0.734000	0.35233	0.0:1.0:0.0:0.0	14.943	0.70661	634	0.64659	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2789.33	34	chr9	104526875	.	C	T	2789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=798;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-1.349;SOR=0.862	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr9	104598659	104598659	C	T	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.G755A:p.C252Y	.	.	.	.	.	.	.	.	.	.	.	2755011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.00246994611369	.	.	1.649e-05	9.612e-05	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs776259909	9.578e-06	2.121e-05	6.807e-06	1.238e-05	7.561e-05	5.56e-06	4.35e-06	2.005e-05	1.055e-05	5.977e-05	0	0	7.561e-05	0	0	0	0.0001	0	5.917e-05	9.195e-05	0.0001	1.346e-05	0.0004	3.079e-05	2.211e-05	7.895e-05	5.59e-05	0.0002	0	0	0	0.0004	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.405737	0.13064	N	0.569118	0.996682	0.22936	N	-3.25	0.00007	N	1.47	0.31987	T	8.63	0.00001	N	0.08	0.05542	-0.9633	0.38547	T	0.009	0.03271	T	10	0.019755512	0.00445	T	0.00247	0.04896	T	0.080	0.23350	0.464	0.53404	0.110392049598	0.10638	0.2437500228943448	0.24289	0.349418471386	0.36798	0.216627031565	0.01124	T	9.28E-4	0.00478	T	-0.290003	0.09636	T	-0.654346	0.08653	T	0.0545333138013981	0.06279	T	0.739426	0.35812	T	0.12779325	0.29895	0.13091049	0.31446	0.12779325	0.29895	0.13091049	0.31445	2.764	0.00026	T	.	.	0.065	0.01986	B	.	.	0.468673	0.08381	5.136	0.25648382125411601	0.01192	0.01710	0.05428	N	AEFI	0.027997	0.02386	N	-1.55052952819888	0.01531	0.06687869	-1.3156076336258	0.04228	0.198993	3.05492226442027E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	2.8	0.31881	0.303000	0.18965	0.499000	0.18978	-1.828000	0.00593	0.041000	0.21027	0.049000	0.21787	0.053000	0.15439	0.1986:0.1108:0.0:0.6906	3.393	0.06872	892	0.26670	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2892.33	210	chr9	104598659	.	C	T	2892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.206;DP=1920;ExcessHet=0;FS=6.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.984;SOR=0.387	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	18	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.07895	7825.77	176	chr9	104694845	.	A	G	7825.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.228;DP=1544;ExcessHet=0;FS=1.97;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=59.89;MQRankSum=-0.143;QD=22.3;ReadPosRankSum=-0.322;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	17	1	1	0
chr9	104747833	104747833	C	T	exonic	NIPSNAP3A	.	nonsynonymous SNV	NIPSNAP3A:NM_001329570:exon1:c.C41T:p.S14L,NIPSNAP3A:NM_015469:exon1:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0403157675314	.	.	1.113e-05	0	0	0	0	0	0	7.134e-05	6.5e-06	1	154602	rs777014471	8.24e-06	9.577e-06	6.832e-06	9.663e-06	6.993e-05	4.39e-06	3.47e-06	3.008e-05	2.046e-05	0	0	0	0	0	0	4.501e-06	1.666e-05	6.993e-05	6.569e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.158	0.23905	T	0.353	0.17320	T	0.008	0.14655	B	0.003	0.08700	B	0.435954	0.04732	N	1.340170	1	0.08975	N	0.55	0.14455	N	0.52	0.55266	T	-1.97	0.45587	N	0.193	0.21188	-1.0586	0.12108	T	0.113	0.40399	T	10	0.0994547	0.18049	T	0.040316	0.59308	D	0.105	0.29889	0.425	0.47021	0.621808498265	0.61874	0.534368866467319	0.53361	0.105121137339	0.11884	.	.	.	0.036894	0.24276	T	-0.227695	0.16956	T	-0.564845	0.15924	T	0.0717454239324717	0.08893	T	0.70113	0.31087	T	0.101647235	0.24012	0.1692262	0.38940	0.101647235	0.24012	0.1692262	0.38940	-4.846	0.35123	T	.	.	0.118	0.23952	B	.	.	1.731107	0.22032	15.45	0.89082254342188238	0.18496	0.19896	0.20837	N	ALL	0.051968	0.09233	N	-0.777264475397609	0.13904	0.6884362	-0.770652356519111	0.15215	0.7991219	0.999999999999675	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.56	3.56	0.39892	1.222000	0.32119	0.120000	0.14904	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	10.945	0.46506	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	829.33	40	chr9	104747833	.	C	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=716;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.87;SOR=0.569	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1126	18	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	46.04	75	chr9	104791984	.	C	G	46.04	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.486;DP=1789;ExcessHet=0.119;FS=235.292;InbreedingCoeff=-0.0545;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.41;SOR=11.414	GT:AD:DP:GQ:PL	0/0:92,26:118:57:0,57,1792	17	0	2	0
chr9	104814129	104814129	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon27:c.A3890G:p.D1297G	HDL deficiency, type 2;Tangier disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.060636784538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.18889	T	0.516	0.10607	T	0.001	0.07471	B	0.003	0.08700	B	0.000001	0.62929	D	0.096084	0.999994	0.58761	D	1.87	0.49600	L	-2.07	0.85943	D	-0.49	0.15578	N	0.606	0.62357	-0.3682	0.73016	T	0.452	0.78591	T	10	0.51824003	0.62491	D	0.060637	0.68066	D	0.245	0.55201	0.323	0.30387	0.924095032617	0.92332	0.5792276256425806	0.57851	0.881853809036	0.69801	0.493667006493	0.37948	T	0.262248	0.63381	T	0.0197291	0.54344	T	-0.209437	0.53748	T	0.924664676189423	0.58596	D	0.952005	0.81587	D	0.22280069	0.44887	0.23794848	0.49105	0.22280069	0.44887	0.23794848	0.49103	-5.163	0.38563	T	0.15551270659334396	0.18645	0.182	0.39613	B	.	.	3.605650	0.50956	23.0	0.98002572859765058	0.37491	0.99608	0.97942	D	AEFBI	0.897782	0.84033	D	-0.0756808645450717	0.38461	2.253007	0.0958281181621473	0.44338	2.717532	0.999999835265338	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.39	5.39	0.77615	7.674000	0.83146	7.867000	0.71756	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.0:0.0:1.0	15.405	0.74593	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	33	chr9	104814129	.	T	C	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=722;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.186;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr9	104889159	104889159	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon3:c.A103G:p.I35V	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1493318	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.419	0.0336809202684	0.0002	0.000199681	4.122e-05	0	8.654e-05	0	0	4.499e-05	0	6.061e-05	3.23e-05	5	154602	rs138992952	7.661e-05	7.661e-05	7.759e-05	7.563e-05	0.0010	6.49e-05	6.07e-05	0.0005	0.0003	2.987e-05	0.0002	0	0	0	0.0010	6.475e-05	0.0002	0.0002	9.195e-05	9.187e-05	8.996e-05	9.402e-05	0.0002	5.525e-05	4.363e-05	9.049e-05	7.013e-05	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.005	0.63226	D	0.066	0.45530	T	0.075	0.24198	B	0.066	0.27432	B	0.000000	0.84330	D	0.000000	0.999911	0.81001	D	1.615	0.41426	L	-2.43	0.88689	D	-0.78	0.26200	N	0.384	0.50868	0.081	0.83829	D	0.618	0.86535	D	10	0.16444382	0.30765	T	0.033681	0.55150	D	0.419	0.72855	.	.	0.884989273205	0.88386	0.4979435163394563	0.49715	0.150839345589	0.17018	0.676338374615	0.63744	T	0.374914	0.73862	T	-0.0249905	0.48139	T	-0.0921457	0.63999	T	0.083638705222223	0.10446	T	0.89721	0.64041	D	0.3546307	0.57425	0.11865142	0.28640	0.3546307	0.57425	0.11865142	0.28640	-5.286	0.39804	T	.	.	0.108	0.50426	B	.;.	.;.	3.556560	0.50018	22.9	0.99718946314054246	0.81914	0.83062	0.42212	D	AEFBCI	0.649076	0.62367	D	0.150055546615347	0.48815	3.089141	0.314695326976777	0.56402	3.803533	0.999999998929065	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.01	6.01	0.97420	4.112000	0.57585	6.098000	0.53520	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1346:0.8653	12.976	0.57938	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	816.33	35	chr9	104889159	.	T	C	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.329;DP=695;ExcessHet=0;FS=2.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.432;SOR=0.397	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr9	105468272	105468272	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon3:c.G191T:p.S64I,FSD1L:NM_001287192:exon3:c.G191T:p.S64I,FSD1L:NM_001330739:exon3:c.G191T:p.S64I,FSD1L:NM_031919:exon3:c.G191T:p.S64I,FSD1L:NM_001145313:exon4:c.G287T:p.S96I	.	478	1025	16	3	0	22	0.0106178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0070	0.00419329	0.0115	0.0021	0.0073	0	0.0134	0.0096	0.0039	0.0182	0.0030401	470	154602	rs41316532	0.0090	0.0085	0.0087	0.0093	0.0154	0.0089	0.0088	0.0146	0.0143	0.0008	0.0024	0.0041	0	0.0150	0.0107	0.0090	0.0085	0.0154	0.0065	0.0065	0.0065	0.0066	0.0160	0.0062	0.0061	0.0131	0.0120	0.0015	0	0.0032	0.0035	0	0.0148	0.0102	0.0092	0.0047	0.0160	0.373	0.15613	T	0.005	0.72224	D	0.958	0.55854	D	0.731	0.55321	P	0.000001	0.84330	U	0.000000	0.998917	0.81001	D	2.125	0.59049	M	0.89	0.45636	T	-1.88	0.43906	N	0.245	0.35194	-0.9864	0.33494	T	0.146	0.47003	T	10	0.0062506497	0.00141	T	.	.	.	0.104	0.29647	.	.	.	.	0.2526506555990148	0.25179	.	.	0.504707276821	0.39484	T	0.011386	0.20890	T	-0.399336	0.02338	T	-0.334071	0.41014	T	0.0199375652469306	0.00694	T	0.822018	0.48435	T	0.35095847	0.57142	0.24878375	0.50436	0.35095847	0.57142	0.24878375	0.50435	-4.993	0.42883	T	.	.	0.176	0.43680	B	.;.;.;.;.;.	.;.;.;.;.;.	3.857481	0.55922	23.7	0.99604712883829216	0.74456	0.96286	0.68399	D	AEFBI	0.544310	0.55929	D	0.54594108279199	0.69835	5.413843	0.618877642340096	0.76313	6.467733	0.999999998718641	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.98	5.98	0.97147	4.657000	0.61185	4.480000	0.43530	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.208	0.93728	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010050	0.005319	0.008621	0.013393	0.000000	0.000000	0.006098	0.000000	0.02632	592.33	33	chr9	105468272	.	G	T	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.223;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,913	18	0	1	0
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S,FSD1L:NM_001287192:exon4:c.G301T:p.A101S,FSD1L:NM_001330739:exon4:c.G301T:p.A101S,FSD1L:NM_031919:exon4:c.G301T:p.A101S,FSD1L:NM_001145313:exon5:c.G397T:p.A133S	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024173	0.021739	0.000000	0.027273	0.000000	0.100000	0.030488	0.026316	0.07895	2841.79	33	chr9	105471961	.	G	T	2841.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.256;DP=824;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.767;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	16	0	3	0
chr9	105604227	105604227	C	T	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_001351498:exon5:c.C382T:p.R128W,FKTN:NM_006731:exon5:c.C382T:p.R128W,FKTN:NM_001079802:exon6:c.C382T:p.R128W,FKTN:NM_001198963:exon6:c.C382T:p.R128W,FKTN:NM_001351496:exon7:c.C382T:p.R128W,FKTN:NM_001351497:exon8:c.C313T:p.R105W	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	258525	Walker-Warburg_congenital_muscular_dystrophy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0333464837821	.	.	4.945e-05	0	8.663e-05	0	0	5.995e-05	0	6.057e-05	3.88e-05	6	154602	rs767026996	2.123e-05	2.189e-05	9.54e-06	3.304e-05	0.0001	1.522e-05	1.326e-05	8.003e-05	6.241e-05	2.992e-05	2.236e-05	0	0	0	0	1.079e-05	8.301e-05	0.0001	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.079	0.42086	T	0.001	0.07471	B	0.0	0.01387	B	0.704993	0.10062	N	0.878706	0.995922	0.42925	D	0.695	0.17993	N	-2.46	0.91019	D	-1.89	0.62151	N	0.418	0.46742	-0.3411	0.73812	T	0.513	0.81714	D	10	0.2543642	0.42814	T	0.033346	0.54917	D	0.379	0.69696	0.445	0.50302	0.806406756828	0.80459	0.6168817100914664	0.61620	0.161743901965	0.18254	0.23783737421	0.02599	T	0.314321	0.68601	T	-0.0625101	0.42515	T	-0.14604	0.59592	T	0.0385499353610001	0.03430	T	0.836416	0.50788	T	0.054137107	0.10346	0.06881928	0.14421	0.054137107	0.10346	0.06881928	0.14420	-7.321	0.56345	T	0.20868239779575906	0.27919	0.067	0.09094	B	.;.;.;.	.;.;.;.	3.417184	0.47432	22.5	0.99555713625536346	0.71459	0.91617	0.53903	D	AEFBI	0.459827	0.51027	N	-0.258168337079731	0.30778	1.719401	-0.074357186268741	0.36454	2.121693	0.0232074840961546	0.13490	0.706548	0.73137	0	0.546412	0.12157	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.07	4.17	0.48303	2.347000	0.43692	1.063000	0.23738	0.599000	0.40250	0.978000	0.35038	0.500000	0.25199	0.960000	0.51673	0.1624:0.7548:0.0:0.0829	8.439	0.31967	956	0.09877	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	5790.81	33	chr9	105604227	.	C	T	5790.81	.	AC=2;AF=0.053;AN=38;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.88;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5818,499,0	18	1	0	0
chr9	106929561	106929561	C	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_021224:exon3:c.C5649A:p.N1883K	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0103805904792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40573	T	0.004	0.74150	D	0.003	0.11197	B	0.008	0.13708	B	0.033129	0.24937	N	0.513154	0.997091	0.22793	N	0	0.06538	N	3.56	0.04696	T	-0.6	0.24460	N	0.157	0.23884	-0.7194	0.59493	T	0.007	0.02282	T	10	0.06765589	0.09458	T	0.010381	0.26850	T	0.019	0.03383	0.466	0.53729	0.043077524339	0.03247	0.11621260306896317	0.11549	0.911059692479	0.71063	0.297051101923	0.09962	T	0.010004	0.09071	T	-0.354175	0.04470	T	-0.746524	0.03623	T	0.165568358927153	0.18274	T	0.848915	0.55036	T	0.093263276	0.21901	0.07905892	0.17766	0.093263276	0.21901	0.07905892	0.17765	-2.816	0.08332	T	.	.	0.242	0.47622	B	.;.;.	.;.;.	1.784308	0.22686	15.72	0.97559774606356897	0.34615	0.71924	0.35225	D	AEFDBIJ	0.353626	0.44598	N	-0.774592647759506	0.13975	0.6924407	-0.650412773512267	0.18206	0.9715739	0.99998377511937	0.51787	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.92	2.76	0.31527	0.166000	0.16400	-1.342000	0.05670	0.599000	0.40250	0.061000	0.21800	0.000000	0.08366	0.998000	0.85391	0.0:0.5941:0.0:0.4059	6.846	0.23169	672	0.60758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2939.33	39	chr9	106929561	.	C	A	2939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.49;DP=847;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=1.01;SOR=0.606	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,32:109:99:0|1:106974250_T_C:383,0,1316:106974250	11	0	6	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	861.73	45	chr9	106974252	.	G	A	861.73	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.021;DP=1244;ExcessHet=0.3672;FS=197.718;InbreedingCoeff=-0.09;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.32;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:84,0:105:54:0|1:106974250_T_C:54,305,3159:106974250	17	0	2	0
chr9	106974252	106974252	G	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216C:p.D1406H,ZNF462:NM_021224:exon9:c.G6811C:p.D2271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0471795829052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.39	0.05710	T	-1.36	0.61580	N	0.875	0.89353	-0.8337	0.53061	T	0.231	0.59645	T	10	0.49586242	0.61262	T	0.04718	0.62801	D	0.360	0.68052	0.394	0.41935	0.147330786459	0.14319	0.7743925162910649	0.77389	1.96447962958	0.93503	0.92381799221	0.98600	D	0.018404	0.22976	T	0.19969	0.73863	D	0.0490645	0.73522	D	0.889481544494629	0.54020	D	0.967503	0.88224	D	0.23358797	0.46165	0.23072106	0.48183	0.23358797	0.46165	0.23072106	0.48182	-14.055	0.93275	D	.	.	0.999	0.98631	P	.;.;.	.;.;.	5.292259	0.88853	29.8	0.99610339763523792	0.74753	0.99345	0.94800	D	AEFBI	0.908733	0.86444	D	0.450547442356911	0.64232	4.673381	0.56578814992134	0.72504	5.820091	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	861.73	45	chr9	106974252	.	G	C	861.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.021;DP=1244;ExcessHet=0.3672;FS=197.718;InbreedingCoeff=-0.09;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.32;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,21:105:54:0|1:106974250_T_C:54,0,2796:106974250	18	0	1	0
chr9	108855134	108855134	G	A	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C797T:p.P266L	.	295	1221	6	0	0	6	0.00245098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00752112602978	0.0008	0.000399361	0.0014	0.0003	0.0023	0	0	0.0019	0.0012	0.0001	0.0013001	201	154602	rs115068245	0.0014	0.0014	0.0014	0.0014	0.0028	0.0013	0.0013	0.0017	0.0014	0.0002	0.0012	0.0103	0	3.823e-05	0.0028	0.0014	0.0017	0.0002	0.0011	0.0011	0.0010	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0005	0.0081	0	9.416e-05	0.0034	0.0017	0.0014	0	1.0	0.00964	T	0.544	0.09621	T	0.005	0.12996	B	0.011	0.15521	B	0.001988	0.37503	N	0.000000	0.992447	0.23881	N	1.195	0.30194	L	3.24	0.06845	T	0.66	0.02297	N	0.136	0.13341	-1.0165	0.24852	T	0.018	0.07470	T	10	0.0058436394	0.00130	T	0.007521	0.19952	T	0.099	0.28413	.	.	0.462982567029	0.45924	0.8605460909224839	0.86018	1.24303543032	0.81606	0.410971820354	0.26592	T	0.353538	0.72081	T	-0.535157	0.00358	T	-0.571572	0.15306	T	0.0131929458371452	0.00234	T	0.707729	0.31835	T	0.04835459	0.08413	0.058558825	0.10839	0.04835459	0.08413	0.058558825	0.10839	-3.266	0.13302	T	.	.	0.120	0.24934	B	.	.	2.500909	0.32279	19.00	0.77532047738309784	0.11915	0.45036	0.27449	N	AEFDBI	0.044702	0.07225	N	-0.548765397085854	0.20522	1.08247	-0.496933823152631	0.22239	1.206904	0.99988958161483	0.44867	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.26	3.37	0.37692	4.440000	0.59717	7.383000	0.58465	0.672000	0.70159	0.975000	0.34726	1.000000	0.68203	0.005000	0.06747	0.1664:0.0:0.6688:0.1647	5.378	0.15475	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1612.33	35	chr9	108855134	.	G	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=894;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.209;SOR=0.629	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1229	18	0	1	0
chr9	109013404	109013404	G	-	exonic	CTNNAL1	.	frameshift deletion	CTNNAL1:NM_001286974:exon1:c.39delC:p.G14Efs*58,CTNNAL1:NM_003798:exon1:c.39delC:p.G14Efs*58	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1500.29	32	chr9	109013403	.	CG	C	1500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=748;ExcessHet=0;FS=1.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.192;SOR=0.907	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr9	109013418	109013418	C	T	exonic	CTNNAL1	.	nonsynonymous SNV	CTNNAL1:NM_001286974:exon1:c.G25A:p.G9S,CTNNAL1:NM_003798:exon1:c.G25A:p.G9S	.	.	.	.	.	.	.	.	.	.	.	2291305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.723960928053	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756612898	8.401e-05	8.345e-05	7.985e-05	8.828e-05	0.0003	7.116e-05	6.655e-05	0.0002	0.0001	0	0.0003	0	0	2.113e-05	0.0002	9.348e-05	7.3e-05	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	4.414e-05	8.15e-06	5.14e-06	1.172e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.414e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.938	0.52538	P	0.152	0.34249	B	0.002247	0.36929	N	0.101002	0.999979	0.18612	N	0.695	0.17993	N	1.43	0.71068	T	0.26	0.05503	N	0.125	0.12341	-0.8863	0.49248	T	0.125	0.42945	T	10	0.19294024	0.35043	T	0.723961	0.97771	D	0.092	0.26621	.	.	0.733027900626	0.73064	0.2693937547201942	0.26852	1.88731367476	0.92685	0.797919511795	0.81646	T	0.009185	0.08381	T	-0.240921	0.15232	T	-0.251778	0.49641	T	0.22998147070892	0.21950	T	0.692631	0.30204	T	0.25050125	0.48052	0.42656165	0.66429	0.25050125	0.48052	0.42656165	0.66429	-4.498	0.30954	T	.	.	0.114	0.29533	B	.;.;.	.;.;.	1.734616	0.22078	15.47	0.98808801993338924	0.46574	0.05198	0.11021	N	AEFBHCIJ	0.078849	0.15917	N	-0.372294120327352	0.26460	1.444288	-0.389377117707037	0.25313	1.39126	0.999999999998767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.82	3.82	0.43153	0.302000	0.18947	0.710000	0.20927	0.575000	0.29119	0.040000	0.20979	0.001000	0.17328	0.166000	0.20848	0.0:1.0:0.0:0.0	11.086	0.47309	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	29	chr9	109013418	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.59;DP=690;ExcessHet=0;FS=4.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=1.06;SOR=0.23	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr9	109436926	109436926	G	A	exonic	PTPN3	.	nonsynonymous SNV	PTPN3:NM_001145369:exon4:c.C239T:p.A80V,PTPN3:NM_001145370:exon4:c.C239T:p.A80V,PTPN3:NM_001145368:exon9:c.C632T:p.A211V,PTPN3:NM_002829:exon9:c.C632T:p.A211V	.	.	.	.	.	.	.	.	.	.	.	171457	Prostate_cancer	Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.686	0.0929550351531	.	0.000399361	4.945e-05	0.0002	0	0	0	0	0	0.0002	5.17e-05	8	154602	rs193920798	2.873e-05	2.873e-05	1.906e-05	3.85e-05	0.0004	2.152e-05	1.908e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0	2.698e-06	1.656e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0002	1.715e-05	1.129e-05	5.282e-05	2.834e-05	4.812e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.625	0.41611	L	-1.24	0.78967	T	-2.79	0.60029	D	0.845	0.84090	0.179	0.85558	D	0.584	0.85043	D	10	0.7019973	0.72502	D	0.092955	0.75986	D	0.686	0.88538	.	.	0.899016730035	0.89801	0.7610677046574713	0.76054	0.846325172495	0.68325	0.803606331348	0.82513	D	0.459921	0.93345	T	0.0490063	0.58214	T	0.154584	0.80472	D	0.564335076008328	0.35019	D	0.957604	0.84537	D	0.66304654	0.76062	0.5889072	0.76152	0.66304654	0.76063	0.5889072	0.76152	-8.194	0.62452	D	.	.	0.685	0.72328	P	.;.;.;.	.;.;.;.	5.352151	0.89774	31	0.99925235190073503	0.99042	0.97667	0.76276	D	AEFBI	0.834528	0.75257	D	0.796660502611905	0.85897	8.715374	0.798957528819169	0.89722	10.09311	0.99999999990797	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	8.236000	0.89751	11.705000	0.94560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	18.870	0.92282	836	0.38045	.;.;FERM central domain|Band 4.1 domain|FERM conserved site|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM conserved site|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	45	chr9	109436926	.	G	A	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=765;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.345;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr9	109943006	109943006	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.G721T:p.A241S,PALM2AKAP2:NM_053016:exon7:c.G817T:p.A273S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0118219655845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987764582	5.473e-06	5.472e-06	4.084e-06	6.875e-06	1.159e-05	2.35e-06	1.7e-06	.	.	0	0	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.18246	T	0.704	0.07766	T	0.989	0.62824	D	0.869	0.61749	P	.	.	.	.	1	0.81001	D	1.78	0.46185	L	2.35	0.16217	T	-0.35	0.13226	N	0.095	0.23125	-1.1391	0.01392	T	0.081	0.32002	T	9	0.25007588	0.42328	T	0.011822	0.29821	T	0.192	0.47115	.	.	0.604342690544	0.60117	0.13835584810251533	0.13759	0.338721449428	0.35836	.	.	.	0.049039	0.28191	T	-0.156628	0.27279	T	-0.462762	0.26298	T	0.433633277350203	0.30195	T	0.831417	0.49863	T	0.12647909	0.29622	0.13265502	0.31829	0.12647909	0.29622	0.13265502	0.31828	-5.306	0.40003	T	.	.	0.143	0.39949	B	.;.;.;.	.;.;.;.	3.515947	0.49260	22.7	0.99385093095610433	0.62068	0.98795	0.86952	D	AEFBI	0.763295	0.70044	D	0.580783268938007	0.71975	5.733572	0.638148336940381	0.77732	6.73613	0.99996382001245	0.48965	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.904000	0.62975	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.868	0.96822	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2669.33	33	chr9	109943006	.	G	T	2669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.607;DP=811;ExcessHet=0;FS=9.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=1.12;SOR=1.179	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,13:70:55:.:.:0,55,1540:.	7	0	5	7
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	735.86	94	chr9	110137054	.	G	A	735.86	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	16	0	1	2
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_001136562:exon2:c.G817C:p.A273P,PALM2AKAP2:NM_001198656:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_007203:exon8:c.G1510C:p.A504P,PALM2AKAP2:NM_147150:exon8:c.G1510C:p.A504P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	735.86	94	chr9	110137054	.	G	C	735.86	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	14	0	3	2
chr9	110304513	110304513	A	T	exonic	TXNDC8	.	nonsynonymous SNV	TXNDC8:NM_001286946:exon4:c.T215A:p.I72N,TXNDC8:NM_001003936:exon5:c.T275A:p.I92N	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0176428207376	0.0002	0.00159744	0.0010	0.0006	8.66e-05	0	0	4.501e-05	0.0011	0.0066	0.0008667	134	154602	rs201086735	0.0004	0.0004	0.0003	0.0005	0.0058	0.0004	0.0004	0.0054	0.0052	0.0006	0	0	0	0	0.0009	2.704e-05	0.0003	0.0058	0.0003	0.0003	0.0003	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	0.0007	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0043	0.003	0.78490	D	0.005	0.79402	D	0.852	0.49185	P	0.287	0.43339	B	0.418124	0.04631	N	1.430160	0.997509	0.22632	N	0.49	0.13296	N	2.09	0.36872	T	-0.8	0.61284	N	0.58	0.60495	-1.0039	0.28785	T	0.077	0.30951	T	10	0.008545071	0.00194	T	0.017643	0.39418	T	0.143	0.38195	.	.	0.0675242888579	0.06100	0.22129866473571058	0.22045	0.0606543774704	0.06746	0.475917756557	0.35495	T	0.007764	0.07145	T	-0.491642	0.00637	T	-0.476513	0.24819	T	0.0704174155153412	0.08709	T	0.667233	0.27634	T	0.27510402	0.50575	0.25691822	0.51399	0.27510402	0.50575	0.25691822	0.51398	-3.816	0.21044	T	.	.	0.23	0.54375	B	.;.;.	.;.;.	3.935700	0.57556	23.9	0.98651916279799301	0.44206	0.86489	0.45780	D	AEFBI	0.181384	0.30870	N	0.147473750714344	0.48694	3.078442	0.20149255002838	0.49929	3.190546	0.998195861120087	0.36560	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	4.25	0.49658	3.716000	0.54633	10.587000	0.83459	0.674000	0.70861	0.989000	0.36753	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	9.921	0.40633	955	0.09969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1696.33	36	chr9	110304513	.	A	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=751;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.893;SOR=1.015	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1469	18	0	1	0
chr9	110329254	110329254	T	A	exonic	TXNDC8	.	nonsynonymous SNV	TXNDC8:NM_001003936:exon3:c.A167T:p.N56I,TXNDC8:NM_001364963:exon3:c.A167T:p.N56I	.	496	1025	1	0	0	1	0.000487567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00429241935057	.	.	1.665e-05	0	0	0	0	1.515e-05	0	6.101e-05	3.84e-05	1	26028	rs758538406	1.507e-05	1.573e-05	1.636e-05	1.377e-05	6.986e-05	9.87e-06	8.43e-06	3.006e-05	2.045e-05	0	0	0	0	0	0	1.44e-05	0	6.986e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.59159	D	0.964	0.55854	D	0.6	0.50752	P	0.444473	0.12586	N	0.727419	1	0.08975	N	0.86	0.21358	L	3.92	0.03462	T	-3.6	0.69357	D	0.313	0.37509	-0.9820	0.34538	T	0.011	0.04369	T	10	0.24405628	0.41630	T	0.004292	0.10404	T	0.054	0.15330	0.617	0.75116	0.043077524339	0.03247	0.25627596304768746	0.25541	0.0156212947983	0.01492	0.355424076319	0.18717	T	0.010048	0.09105	T	-0.333425	0.05857	T	-0.616089	0.11496	T	0.359640654443649	0.27395	T	0.585741	0.46599	T	0.5491408	0.69908	0.33301994	0.59144	0.5491408	0.69909	0.33301994	0.59144	-3.328	0.18016	T	.	.	0.192	0.45224	B	.;.	.;.	0.369603	0.07422	4.049	0.98268595120626889	0.39740	0.02308	0.06627	N	AEFI	0.060688	0.11551	N	-0.448582524666886	0.23787	1.279943	-0.641079603568309	0.18442	0.9852153	0.767864093735376	0.23620	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	-1.23	0.08977	-0.534000	0.06238	-1.534000	0.05225	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.1687:0.1971:0.1748:0.4594	0.604	0.00700	941	0.13089	Thioredoxin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	33	chr9	110329254	.	T	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.292;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1228	18	0	1	0
chr9	110406407	110406407	C	A	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G9193T:p.G3065C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0115628140936	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768349767	4.789e-06	4.788e-06	5.445e-06	4.126e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000011	0.62929	D	0.149633	0.99044	0.41161	D	4.19	0.97772	H	.	.	.	.	.	.	0.355	0.42345	-0.5254	0.67714	T	0.252	0.62189	T	10	0.4072864	0.55981	T	0.011563	0.29307	T	0.337	0.65913	0.56	0.67958	0.110392049598	0.10638	0.6594878585333578	0.65885	0.501333492851	0.48519	0.470808386803	0.34791	T	0.12768	0.45486	T	0.0412874	0.57214	T	-0.17847	0.56665	T	0.99547004699707	0.87491	D	0.774123	0.40598	T	0.36089796	0.57904	0.26503465	0.52331	0.36089796	0.57905	0.26503465	0.52330	-8.375	0.63599	D	.	.	0.399	0.59522	A	.;.	.;.	4.234574	0.64158	24.7	0.994390988576899	0.64670	0.99187	0.92514	D	AEFDBI	0.887423	0.81966	D	0.784825778690251	0.85147	8.49034	0.684896538234898	0.81232	7.478771	0.479094416416694	0.20770	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.280000	0.43103	5.897000	0.50837	0.547000	0.25779	0.998000	0.41325	1.000000	0.68203	0.642000	0.32476	0.0:1.0:0.0:0.0	19.863	0.96791	969	0.06854	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1893.33	74	chr9	110406407	.	C	A	1893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.885;DP=1429;ExcessHet=0;FS=6.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.739;SOR=1.15	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr9	110407688	110407688	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7912A:p.D2638N	.	421	1062	36	3	0	42	0.0193906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0009	0.00419329	0.0039	0.0002	0.0009	0	0	0.0016	0.0022	0.0211	0.0033699	521	154602	rs150389025	0.0022	0.0022	0.0016	0.0028	0.0190	0.0022	0.0021	0.0182	0.0179	8.961e-05	0.0012	0.0036	5.038e-05	0.0001	0.0088	0.0011	0.0027	0.0190	0.0016	0.0016	0.0013	0.0020	0.0188	0.0015	0.0014	0.0157	0.0146	7.216e-05	0.0175	0.0006	0.0023	0	0	0.0102	0.0017	0.0028	0.0188	.	.	.	0.156	0.31833	T	0.09	0.25173	B	0.051	0.25434	B	0.137757	0.18402	N	0.581714	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.179	0.19325	-0.8995	0.48044	T	0.210	0.56973	T	10	0.002509147	0.00038	T	.	.	.	0.184	0.45763	.	.	0.043077524339	0.03247	0.2620463983057441	0.26117	0.121745610629	0.13719	0.28997734189	0.08920	T	0.011709	0.10405	T	-0.438756	0.01315	T	-0.387424	0.34853	T	0.0170388723119597	0.00452	T	0.806319	0.45525	T	0.07042702	0.15511	0.064716496	0.13012	0.07042702	0.15511	0.064716496	0.13012	-4.035	0.24326	T	.	.	0.079	0.07318	B	.;.	.;.	1.640661	0.20938	14.98	0.9681063104756773	0.31187	0.29024	0.23712	N	AEFGBI	0.213469	0.33904	N	-0.524122409655037	0.21302	1.129493	-0.48544654266276	0.22554	1.225571	0.0590270227794336	0.15147	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	1.585000	0.36210	3.945000	0.40631	0.547000	0.25779	0.396000	0.26137	0.999000	0.35428	0.078000	0.17132	0.0:0.7881:0.1376:0.0743	10.073	0.41516	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.015152	0.02632	1840.33	41	chr9	110407688	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1384;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-2.3;SOR=0.869	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr9	110411307	110411307	G	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon37:c.C6404G:p.S2135C	.	433	1061	23	5	0	33	0.0153132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	0.0009	0.00219649	0.0020	0	0.0005	0.0002	0.0002	0.0010	0.0067	0.0099	0.0017658	273	154602	rs201520602	0.0011	0.0011	0.0007	0.0014	0.0105	0.0010	0.0010	0.0100	0.0097	5.974e-05	0.0004	0.0003	5.038e-05	0.0001	0.0050	0.0004	0.0014	0.0105	0.0007	0.0007	0.0005	0.0009	0.0108	0.0006	0.0005	0.0084	0.0076	0	0	0.0004	0.0003	0	0.0002	0.0068	0.0005	0.0005	0.0108	0.018	0.50676	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.19	0.88972	M	0.75	0.66834	T	-2.13	0.52612	N	0.701	0.70527	-0.1106	0.79853	T	0.479	0.80047	T	10	0.011466593	0.00250	T	.	.	.	0.521	0.79643	.	.	0.284112513307	0.28011	0.5651406010224773	0.56441	0.475177538353	0.46692	0.497750043869	0.38514	T	0.035319	0.23671	T	-0.117525	0.33528	T	0.0663681	0.74668	D	0.0880394297841821	0.10983	T	0.787021	0.42574	T	0.34286007	0.56506	0.24555826	0.50047	0.34286007	0.56506	0.24555826	0.50046	-10.986	0.79582	D	.	.	0.470	0.63186	A	.;.	.;.	5.089267	0.84982	28.5	0.99257070197866881	0.57088	0.99565	0.97500	D	AEFBI	0.916904	0.88376	D	0.888241225313274	0.91171	10.75063	0.890068235185681	0.95124	13.33367	0.999999999443821	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	9.756000	0.98104	11.791000	0.96374	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.931	0.97118	966	0.07191	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.022727	0.05263	3342.83	34	chr9	110411307	.	G	C	3342.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=871;ExcessHet=0.119;FS=4.2;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.381;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	17	0	2	0
chr9	110427708	110427708	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon36:c.G5858A:p.R1953K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0003	0.00738818	0.0024	0.0011	0	0.0299	0	1.5e-05	0.0011	0.0010	0.0023286	360	154602	rs17204832	0.0009	0.0009	0.0009	0.0009	0.0252	0.0009	0.0008	0.0239	0.0234	0.0006	2.237e-05	0	0.0252	0	0.0002	1.529e-05	0.0031	0.0010	0.0013	0.0013	0.0011	0.0016	0.0290	0.0012	0.0011	0.0252	0.0238	0.0007	0	0.0003	0	0.0290	0	0	1.47e-05	0.0005	0.0031	.	.	.	0.043	0.50226	D	0.101	0.25775	B	0.061	0.26820	B	0.393023	0.13229	N	0.761271	1	0.18878	N	0.99	0.25021	L	.	.	.	.	.	.	0.051	0.02658	-0.9869	0.33371	T	0.019	0.07846	T	10	0.001588136	0.00018	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.4024899903170348	0.40164	0.0930429188605	0.10513	0.374419778585	0.21463	T	0.006392	0.05823	T	-0.640172	0.00083	T	-0.667965	0.07739	T	0.00121171389751553	0.00012	T	0.411059	0.10645	T	0.054661173	0.10516	0.066395745	0.13595	0.054661173	0.10516	0.066395745	0.13595	-1.463	0.01690	T	.	.	0.088	0.11558	B	.;.	.;.	1.381814	0.17934	13.45	0.94079956229853556	0.24227	0.20474	0.21054	N	ALL	0.130141	0.24858	N	-0.890120415360085	0.11076	0.5326238	-0.8008489852268	0.14475	0.756496	0.999999698154986	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	6.17	-0.281	0.12244	0.470000	0.21795	1.342000	0.25744	-0.173000	0.11020	0.022000	0.19841	0.998000	0.33993	0.947000	0.49155	0.0:0.5622:0.1886:0.2492	8.661	0.33253	967	0.07127	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1588.33	35	chr9	110427708	.	C	T	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=787;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.06;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr9	110435253	110435253	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon29:c.A4876G:p.I1626V	.	433	1077	12	0	0	12	0.00554017	.	.	.	2840705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.191	0.00882891341451	0.0003	0.000399361	0.0008	0.0001	0.0024	0	0	0.0004	0.0011	0.0027	0.0006727	104	154602	rs151157223	0.0004	0.0004	0.0003	0.0005	0.0071	0.0004	0.0004	0.0054	0.0048	0.0001	0.0015	0.0004	0	0	0.0071	0.0002	0.0006	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	2.406e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0012	.	.	.	0.01	0.72224	D	0.008	0.14655	B	0.004	0.10090	B	0.000956	0.40932	D	0.272836	0.999262	0.21918	N	2.425	0.70256	M	.	.	.	.	.	.	0.394	0.43514	-0.7437	0.58262	T	0.288	0.65968	T	10	0.014389187	0.00303	T	0.008829	0.23294	T	0.191	0.46948	.	.	0.043077524339	0.03247	0.37065302493303626	0.36979	0.0895599370888	0.10117	0.381764382124	0.22507	T	0.007873	0.07247	T	-0.47024	0.00847	T	-0.45317	0.27346	T	0.0420534697939547	0.04064	T	0.581242	0.21054	T	0.04798732	0.08291	0.051949628	0.08465	0.04798732	0.08291	0.051949628	0.08464	-2.368	0.04940	T	.	.	0.071	0.04041	B	.;.	.;.	2.181266	0.27801	17.59	0.3837102778993291	0.02584	0.94314	0.60772	D	AEFBI	0.628681	0.61068	D	-0.218249766730362	0.32385	1.825823	-0.0767232625415517	0.36356	2.114654	0.10345070058072	0.16447	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.41	4.27	0.50009	4.267000	0.58676	1.270000	0.25285	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1313:0.0:0.0:0.8687	11.828	0.51552	974	0.05496	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.023392	0.000000	0.017241	0.003049	0.003788	0.02632	2811.33	210	chr9	110435253	.	T	C	2811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.908;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr9	110471412	110471412	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon16:c.G2950C:p.A984P	.	.	.	.	.	.	.	.	.	.	.	2444482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.488	0.0449983039542	.	.	0.0001	0	0	0	0	7.515e-05	0	0.0005	8.41e-05	13	154602	rs368929962	8.073e-05	8.209e-05	5.445e-05	0.0001	0.0008	6.868e-05	6.421e-05	0.0006	0.0006	2.987e-05	0	0	0	0	0	4.047e-05	4.969e-05	0.0008	7.225e-05	7.219e-05	6.426e-05	8.06e-05	0.0004	3.97e-05	3.126e-05	7.299e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.167	0.23095	T	0.0	0.92824	D	0.451	0.36091	B	0.086	0.29521	B	0.000000	0.84330	D	0.047830	0.996832	0.45816	D	1.975	0.53506	M	-0.99	0.75911	T	-1.95	0.45222	N	0.802	0.79792	-0.2135	0.77322	T	0.508	0.81474	D	10	0.49762386	0.61360	T	0.044998	0.61764	D	0.488	0.77592	0.549	0.66436	0.501033390876	0.49739	0.5504802606955975	0.54974	0.550379459692	0.51906	0.535266697407	0.43777	T	0.013277	0.11513	T	-0.000729411	0.51554	T	0.137021	0.79351	D	0.312132686376572	0.25501	T	0.849815	0.53298	T	0.47351614	0.65506	0.5186475	0.72189	0.47351614	0.65507	0.5186475	0.72189	-5.854	0.45042	T	.	.	0.228	0.46013	B	.;.	.;.	2.865103	0.37866	20.6	0.99030821896067855	0.50786	0.96547	0.69686	D	AEFDI	0.884227	0.81374	D	0.288658248707474	0.55571	3.721368	0.374876178883585	0.60018	4.185162	0.99340976671182	0.33202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	4.539000	0.60368	3.313000	0.37480	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:1.0:0.0:0.0	19.377	0.94507	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4398.81	33	chr9	110471412	.	C	G	4398.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.65;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	1	0	0
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T,MUSK:NM_001166281:exon5:c.T500C:p.I167T,MUSK:NM_005592:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	1	1491	28	2	0	32	0.0106171	.	.	.	310665	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|MUSK-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.05263	4203.81	36	chr9	110697338	.	T	C	4203.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.4;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	18	1	0	0
chr9	110800309	110800309	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.T671C:p.V224A,MUSK:NM_001166281:exon12:c.T1643C:p.V548A,MUSK:NM_001166280:exon13:c.T1673C:p.V558A,MUSK:NM_005592:exon14:c.T1931C:p.V644A	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1504	17	1	0	19	0.00627684	.	.	.	253279	not_provided|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|not_specified	MedGen:C3661900|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	0.0970055682466	0.0025	0.00179712	0.0028	0.0003	0.0010	0.0001	0.0021	0.0037	0.0024	0.0042	0.0026908	416	154602	rs41279055	0.0037	0.0037	0.0037	0.0036	0.0041	0.0036	0.0036	0.0040	0.0040	0.0003	0.0018	0.0016	0	0.0026	0.0040	0.0041	0.0032	0.0035	0.0027	0.0027	0.0024	0.0029	0.0046	0.0024	0.0024	0.0036	0.0035	0.0004	0	0.0032	0.0020	0	0.0027	0.0034	0.0040	0.0033	0.0046	0.002	0.72154	D	0.003	0.79402	D	0.373	0.34173	B	0.396	0.44364	B	0.000006	0.62929	D	0.063149	1	0.81001	D	1.435	0.35949	L	-1.7	0.83072	D	-3.71	0.70674	D	0.871	0.93018	-0.0676	0.80832	T	0.423	0.76763	T	10	0.057576776	0.06634	T	0.097006	0.76700	D	0.805	0.93660	.	.	0.849818709167	0.84837	0.6924260660013182	0.69182	0.756905098849	0.64057	0.796596288681	0.81446	T	0.481056	0.80978	T	0.00689684	0.52601	T	0.236986	0.85005	D	0.0360591295762086	0.02992	T	0.769823	0.39947	T	0.57534623	0.71354	0.55415136	0.74215	0.58510226	0.71887	0.64054227	0.79001	-10.283	0.75589	D	0.4229103633456847	0.51139	0.683	0.73000	P	.;.;.;.	.;.;.;.	3.738890	0.53529	23.4	0.99784028026709548	0.87043	0.98923	0.88681	D	AEFGBI	0.929285	0.91480	D	0.216838402520189	0.52015	3.378498	0.2925395247629	0.55102	3.673715	0.999999994025041	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.951000	0.87297	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.0:0.0:1.0	14.301	0.65900	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1988.33	40	chr9	110800309	.	T	C	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=869;ExcessHet=0;FS=7.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.224;SOR=1.246	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr9	111371722	111371722	C	T	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon42:c.G4636A:p.A1546T,ECPAS:NM_001364931:exon42:c.G4654A:p.A1552T,ECPAS:NM_001364929:exon43:c.G4636A:p.A1546T,ECPAS:NM_001364930:exon43:c.G4636A:p.A1546T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0180785677172	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs749856712	9.58e-06	9.577e-06	6.808e-06	1.238e-05	1.17e-05	5.56e-06	4.35e-06	6.53e-06	5.03e-06	0	0	0	0	0	0	1.17e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.11227	T	0.262	0.92824	T	.	.	.	.	.	.	0.000001	0.62929	D	0.056173	0.999943	0.51968	D	.	.	.	-0.26	0.67187	T	-1.17	0.29933	N	0.509	0.61087	-0.7183	0.59546	T	0.256	0.62631	T	10	0.2524172	0.42595	T	0.018079	0.40021	T	0.115	0.32236	0.437	0.48993	0.318133320967	0.31420	0.4705721118429437	0.46976	0.159848078796	0.18038	0.730576038361	0.71590	T	0.032345	0.22444	T	0.00849777	0.52821	T	-0.22557	0.52199	T	0.56685346364975	0.35114	D	0.926107	0.72788	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.40714	B	.;.;.	.;.;.	3.667067	0.52120	23.2	0.99690775800769127	0.79909	0.97745	0.76826	D	AEFBI	0.524478	0.54765	D	0.203725132183652	0.51380	3.31966	0.371151862446584	0.59792	4.160187	0.999999997496737	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.855000	0.69252	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9272:0.0:0.0728	13.148	0.58891	864	0.32732	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	38	chr9	111371722	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.507;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1284	18	0	1	0
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V,SHOC1:NM_001080551:exon14:c.A2119G:p.I707V,SHOC1:NM_173521:exon16:c.A2236G:p.I746V,SHOC1:NM_001378211:exon18:c.A2428G:p.I810V	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.006793	0.014706	0.000000	0.017241	0.003049	0.011364	0.05263	1842.83	33	chr9	111713160	.	T	C	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=751;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.147;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	17	0	2	0
chr9	112111717	112111717	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.G1108A:p.V370M,SUSD1:NM_001282643:exon8:c.G1108A:p.V370M,SUSD1:NM_022486:exon8:c.G1108A:p.V370M	.	429	1082	11	0	0	11	0.00505747	.	.	.	723248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.097	0.0372635756711	0.0023	0.000998403	0.0022	0.0002	0.0042	0	0.0002	0.0031	0.0055	0.0001	0.0021798	337	154602	rs146611081	0.0030	0.0030	0.0029	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0004	0.0035	0.0135	0	7.488e-05	0.0068	0.0032	0.0037	0.0002	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0006	0	0.0024	0.0132	0	0	0.0068	0.0024	0.0028	0.0002	0.031	0.46129	D	0.007	0.70582	D	0.975	0.58077	D	0.424	0.45210	B	0.021106	0.26899	N	0.185929	1	0.08975	N	2.785	0.81254	M	-0.91	0.75670	T	-1.33	0.33197	N	0.228	0.26475	-0.5208	0.67884	T	0.371	0.73016	T	10	0.0047426224	0.00100	T	0.037264	0.57510	D	0.281	0.59861	.	.	0.506373324096	0.50276	0.568278895837355	0.56755	0.197480517235	0.22124	0.366599887609	0.20343	T	0.059504	0.31133	T	-0.426477	0.01557	T	-0.386219	0.34995	T	0.0231086612748035	0.01037	T	0.750125	0.37153	T	0.028860273	0.02288	0.05759965	0.10497	0.028860273	0.02288	0.05759965	0.10497	-7.218	0.55610	T	.	.	0.138	0.35393	B	.;.;.	.;.;.	0.431667	0.08022	4.739	0.99674541523092997	0.78846	0.04197	0.09704	N	AEFBI	0.067539	0.13282	N	-0.203300905073977	0.32998	1.867243	-0.366909802667865	0.25992	1.432796	0.999965599065644	0.48965	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.6	3.73	0.41982	-0.367000	0.07607	-2.215000	0.04046	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.8333:0.0:0.1667	9.495	0.38149	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.004076	0.008772	0.050000	0.017241	0.006098	0.000000	0.02632	1429.33	34	chr9	112111717	.	C	T	1429.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=746;ExcessHet=0;FS=7.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.15;SOR=0.297	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1414	18	0	1	0
chr9	112143473	112143473	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon4:c.C524T:p.T175I,SUSD1:NM_001282643:exon4:c.C524T:p.T175I,SUSD1:NM_022486:exon4:c.C524T:p.T175I	.	437	1081	4	0	0	4	0.00184672	0.9901	0.796	.	711693	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.300	.	0.0049	0.00439297	0.0015	0.0163	0.0010	0	0	3.001e-05	0	6.077e-05	0.0014101	218	154602	rs143390223	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0162	0.0157	0.0173	0.0010	0	0	0	0.0012	2.609e-05	0.0011	2.325e-05	0.0046	0.0046	0.0049	0.0044	0.0157	0.0043	0.0042	0.0147	0.0143	0.0157	0	0.0027	0	0	0	0	1.47e-05	0.0047	0.0002	0.13	0.31987	T	0.015	0.61642	D	0.997	0.70673	D	0.859	0.61184	P	0.008874	0.30626	N	0.151391	0.507951	0.31795	D	2.635	0.77114	M	-0.81	0.74477	T	-3.09	0.63438	D	0.264	0.29889	-0.0945	0.80225	T	0.353	0.71650	T	10	0.009708136	0.00218	T	.	.	.	0.300	0.62068	.	.	0.693714523886	0.69107	0.4331451668364957	0.43231	0.221929053935	0.24731	0.332475095987	0.15308	T	0.218073	0.58069	T	-0.298629	0.08789	T	-0.18811	0.55768	T	0.0273748455466103	0.01597	T	0.720328	0.33319	T	0.1391478	0.32154	0.11396855	0.27508	0.1391478	0.32153	0.11396855	0.27507	-9.23	0.69165	D	.	.	0.137	0.29941	B	.;.;.	.;.;.	3.904666	0.56897	23.8	0.99865622052042591	0.94366	0.83328	0.42454	D	AEFGBI	0.288138	0.40010	N	0.378129221546389	0.60238	4.210636	0.383259301782389	0.60534	4.241869	0.99573448701443	0.34294	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.87	4.96	0.65153	0.993000	0.29281	3.172000	0.36616	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.0:0.7163:0.2837	13.476	0.60762	751	0.51694	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1155.33	35	chr9	112143473	.	G	A	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.728;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1329	18	0	1	0
chr9	112332824	112332824	G	A	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244898:exon1:c.C20T:p.P7L	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.00678914	0.0056	0	0.0002	0	0	4.783e-05	0	0.0393	0.0045342	701	154602	rs528795752	0.0023	0.0023	0.0014	0.0033	0.0368	0.0023	0.0022	0.0357	0.0353	8.965e-05	4.474e-05	0	2.52e-05	0	0.0026	3.149e-05	0.0028	0.0368	0.0011	0.0011	0.0006	0.0016	0.0340	0.0010	0.0009	0.0298	0.0282	7.221e-05	0	0.0001	0	0	0	0	0	0.0005	0.0340	0.0	0.91255	D	0.015	0.61642	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.79176	T	-0.48	0.15379	N	0.104	0.08786	-0.8983	0.48165	T	0.232	0.59867	T	8	0.0025268793	0.00038	T	.	.	.	0.125	0.34456	0.185	0.09388	0.410380932278	0.40655	0.27813221972302427	0.27726	0.138476855151	0.15614	.	.	.	0.008574	0.07868	T	-0.457493	0.01019	T	-0.401365	0.33226	T	0.0288982929121796	0.01823	T	0.535646	0.17968	T	.	.	.	.	.	.	.	.	-3.311	0.13879	T	.	.	0.09	0.16973	B	.;.	.;.	0.162223	0.05527	1.987	0.93551389905836591	0.23382	0.02016	0.06059	N	ALL	0.033652	0.04033	N	-1.10180431804324	0.06611	0.3048253	-1.24116442647048	0.05264	0.2503536	0.999999999999037	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.231153	0.04653	2	0.56214	0.19341	0	.	.	3.36	-3.24	0.04779	-1.503000	0.02381	-1.633000	0.05020	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.4067:0.0:0.2662:0.3272	3.303	0.06579	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	578.33	38	chr9	112332824	.	G	A	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.054;SOR=0.61	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1154	18	0	1	0
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3630.75	42	chr9	112416941	.	TGTGGTAG	T	3630.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.484;DP=796;ExcessHet=0.3672;FS=2.458;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.947;SOR=0.523	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	16	0	3	0
chr9	112454041	112454041	A	G	exonic	C9orf147;HSDL2	.	nonsynonymous SNV	C9orf147:NM_001350649:exon5:c.T415C:p.F139L	.	434	1086	2	0	0	2	0.000919963	.	.	.	723249	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0003	0.0255591	0.0098	0.0009	0.0002	0.1290	0	0.0001	0.0078	0.0030	0.0092302	1427	154602	rs3739696	0.0035	0.0035	0.0035	0.0035	0.1081	0.0034	0.0034	0.1054	0.1043	0.0003	0.0002	0	0.1081	0	0.0003	5.486e-05	0.0070	0.0038	0.0046	0.0046	0.0037	0.0056	0.1181	0.0043	0.0042	0.1104	0.1073	0.0004	0	0.0010	0	0.1181	0	0	7.351e-05	0.0038	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1057.33	34	chr9	112454041	.	A	G	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=692;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=0.643;SOR=0.515	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1228	18	0	1	0
chr9	112838524	112838524	G	A	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.G841A:p.G281R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.085023843063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.475e-06	5.472e-06	6.809e-06	4.127e-06	1.16e-05	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	3.313e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.009	0.66756	D	0.999	0.77913	D	0.944	0.68059	D	0.000000	0.84330	D	0.048277	1	0.81001	D	2.71	0.79292	M	1.58	0.29085	T	-3.65	0.69950	D	0.933	0.93841	-0.7129	0.59810	T	0.203	0.55975	T	10	0.8435956	0.83519	D	0.085024	0.74447	D	0.469	0.76355	0.56	0.67958	0.288221626996	0.28429	0.8948709038505548	0.89458	1.11683843189	0.78191	0.882458746433	0.94289	D	0.35722	0.72396	T	0.213251	0.75138	D	0.0685445	0.74814	D	0.978819310665131	0.72514	D	0.954105	0.82551	D	0.46696937	0.65104	0.33133188	0.58994	0.46696937	0.65104	0.33133188	0.58993	-11.549	0.82585	D	.	.	0.773	0.76072	P	.	.	5.254734	0.88230	29.5	0.99928233891755791	0.99222	0.99222	0.93031	D	AEFBI	0.917105	0.88424	D	0.748810461391622	0.82826	7.85994	0.688556645007477	0.81508	7.543461	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	9.602000	0.97623	11.759000	0.95586	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	34	chr9	112838524	.	G	A	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.51;SOR=0.618	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	18	0	1	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.050000	0.008621	0.018293	0.000000	0.02632	899.33	34	chr9	112838537	.	C	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=736;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.398;SOR=0.464	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1305	18	0	1	0
chr9	112889975	112889975	G	C	exonic	SLC46A2	.	nonsynonymous SNV	SLC46A2:NM_033051:exon1:c.C707G:p.P236R	.	426	1055	40	1	0	42	0.0195167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0074	0.00758786	0.0092	0.0016	0.0018	0	0.0029	0.0096	0.0077	0.0253	0.0088421	1367	154602	rs76734829	0.0089	0.0089	0.0084	0.0094	0.0239	0.0088	0.0087	0.0230	0.0227	0.0021	0.0041	0.0418	5.038e-05	0.0028	0.0151	0.0078	0.0103	0.0239	0.0063	0.0063	0.0063	0.0062	0.0199	0.0059	0.0058	0.0167	0.0155	0.0015	0.0099	0.0046	0.0415	0	0.0033	0.0272	0.0076	0.0066	0.0199	0.004	0.65419	D	0.28	0.21678	T	0.81	0.45366	P	0.444	0.45865	B	0.069099	0.02229	N	1.881900	0.99999	0.08975	N	2.34	0.67151	M	0.46	0.56281	T	-1.22	0.30964	N	0.169	0.17966	-0.8228	0.53758	T	0.177	0.52162	T	10	0.0033922493	0.00059	T	.	.	.	0.230	0.53062	.	.	0.540243489925	0.53678	0.12715950132660506	0.12641	0.468673283534	0.46202	0.242468670011	0.03017	T	0.112379	0.42861	T	-0.573071	0.00212	T	-0.577029	0.14811	T	0.0359413295167165	0.02971	T	0.535646	0.17968	T	0.13351344	0.31052	0.18895271	0.42214	0.13351344	0.31052	0.18895271	0.42213	-4.343	0.28775	T	.	.	0.082	0.08802	B	.	.	1.928125	0.24491	16.42	0.99191876508663335	0.54994	0.58164	0.30569	D	AEFDBCI	0.159025	0.28476	N	-0.148368715681936	0.35304	2.026128	-0.22074679925948	0.30792	1.736893	0.99999991824512	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	1.145000	0.31189	6.524000	0.55840	0.675000	0.71128	0.348000	0.25742	1.000000	0.68203	0.068000	0.16518	0.0:0.0:1.0:0.0	16.145	0.81374	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.025253	0.032609	0.023392	0.000000	0.008621	0.018293	0.011364	0.02632	1651.33	33	chr9	112889975	.	G	C	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=742;ExcessHet=0;FS=4.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.617;SOR=0.415	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr9	113043734	113043734	C	T	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon4:c.G929A:p.C310Y,ZFP37:NM_001282518:exon4:c.G887A:p.C296Y,ZFP37:NM_003408:exon4:c.G884A:p.C295Y	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.0259686947664	.	0.000599042	0.0002	0	0.0004	0	0	8.992e-05	0	0.0007	0.0001682	26	154602	rs201541582	9.372e-05	9.371e-05	6.807e-05	0.0001	0.0010	8.093e-05	7.585e-05	0.0008	0.0008	5.974e-05	0.0003	0	0	0	0.0009	2.698e-05	0	0.0010	0.0001	0.0001	6.426e-05	0.0001	0.0010	6.509e-05	5.321e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0	8.824e-05	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000199	0.48115	D	0.000000	0.999854	0.49910	D	2.58	0.75369	M	0.34	0.58176	T	-10.07	0.98905	D	0.681	0.84298	-0.1513	0.78884	T	0.382	0.73832	T	10	0.38419423	0.54418	T	0.025969	0.48910	D	0.558	0.81831	.	.	0.832456107973	0.83086	0.3301878729901898	0.32931	0.579052114772	0.53792	0.725376009941	0.70832	T	0.39031	0.75052	T	0.0613229	0.59780	T	0.242505	0.85266	D	0.964952170848846	0.67117	D	0.0906909	0.00671	T	0.9211865	0.93363	0.88615096	0.93995	0.9211865	0.93364	0.88615096	0.93995	-11.899	0.86319	D	.	.	0.524	0.68929	A	.;.;.	.;.;.	4.741747	0.76480	26.5	0.99612186855638818	0.74873	0.01988	0.06004	N	AEFBHCI	0.788422	0.71791	D	0.773538402752477	0.84428	8.284777	0.671824135057036	0.80246	7.256208	0.999995564025946	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	7.666000	0.82835	5.933000	0.51351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	14.916	0.70446	861	0.33516	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2027.33	37	chr9	113043734	.	C	T	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.93;DP=777;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.197;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	18	0	1	0
chr9	113162845	113162845	G	A	exonic	SLC31A2	.	stopgain	SLC31A2:NM_001860:exon4:c.G360A:p.W120X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780664346	1.026e-05	1.026e-05	8.169e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.7e-05	0	0	0	0	0	0.0005	8.095e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.126220	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.358	0.39962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.797884	0.99325	43	0.99429475435621995	0.64179	0.97957	0.78421	D	AEFDGBI	0.303658	0.41158	N	0.925155092949936	0.92936	11.71949	0.816822301398221	0.90937	10.64007	0.999994142986414	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	8.327000	0.89925	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1574:0.8426:0.0	13.382	0.60215	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	880.33	33	chr9	113162845	.	G	A	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=750;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.647;SOR=0.571	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr9	113373937	113373937	G	A	exonic	HDHD3	.	nonsynonymous SNV	HDHD3:NM_001304511:exon2:c.C418T:p.R140W,HDHD3:NM_031219:exon2:c.C418T:p.R140W,HDHD3:NM_001304509:exon3:c.C418T:p.R140W,HDHD3:NM_001304510:exon3:c.C418T:p.R140W,HDHD3:NM_001371923:exon3:c.C418T:p.R140W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0523525848532	0.0006	0.000599042	0.0003	0.0028	8.642e-05	0.0002	0.0002	4.499e-05	0	6.057e-05	0.0002652	41	154602	rs76975306	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0002	0	5.038e-05	7.491e-05	0	6.025e-05	0.0004	4.637e-05	0.0009	0.0009	0.0009	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	6.532e-05	0	0	9.407e-05	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	3.41	0.05574	T	-6.13	0.90100	D	0.868	0.88798	-0.9360	0.43241	T	0.080	0.31645	T	10	0.13039291	0.24815	T	0.052353	0.65037	D	0.355	0.67600	.	.	0.404034981753	0.40020	0.7403792867887609	0.73982	0.627442110425	0.56838	0.588320910931	0.51257	T	0.146456	0.48407	T	-0.112356	0.34379	T	0.0640428	0.74513	D	0.273257576309663	0.23886	T	0.920008	0.71084	D	0.91098595	0.92387	0.83915585	0.90783	0.91098595	0.92388	0.83915585	0.90783	-10.688	0.77919	D	.	.	0.435	0.62660	A	.;.	.;.	4.119003	0.61550	24.4	0.99904416660398432	0.97576	0.88308	0.48177	D	AEFDBCI	0.623763	0.60759	D	0.458904644509364	0.64710	4.731751	0.295183566673393	0.55258	3.688968	0.999999463652249	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.570548	0.19454	0	0.549297	0.17558	0	.	.	5.86	3.82	0.43153	3.124000	0.50155	1.919000	0.29697	0.676000	0.76740	1.000000	0.71638	0.982000	0.30508	0.367000	0.26044	0.0:0.0:0.7413:0.2587	15.758	0.77828	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2032.33	42	chr9	113373937	.	G	A	2032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.258;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.022;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	18	0	1	0
chr9	113479524	113479524	G	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001282923:exon2:c.G13A:p.G5R,RGS3:NM_017790:exon2:c.G113A:p.R38Q,RGS3:NM_144488:exon5:c.G449A:p.R150Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.038325885513	.	.	4.942e-05	0	0	0	0	4.496e-05	0	0.0002	3.88e-05	6	154602	rs763284548	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0001	1.997e-05	1.754e-05	7.124e-05	5.482e-05	0	2.236e-05	0	0	0	0	2.158e-05	4.967e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.092	0.39954	T	0.749	0.70673	P	0.018	0.64984	B	0.014537	0.28506	N	0.221591	0.997622	0.22580	N	1.245	0.31408	L	-1.0	0.76037	T	-0.98	0.25986	N	0.269	0.30461	-0.5350	0.67353	T	0.372	0.73091	T	10	0.15509155	0.29239	T	0.038326	0.58156	D	0.130	0.35528	0.531	0.63855	0.564910210825	0.56154	0.11836697124247203	0.11763	0.25158685093	0.27740	0.266571998596	0.05698	T	0.077454	0.35659	T	-0.19566	0.21433	T	-0.28216	0.46581	T	0.153819986472076	0.17404	T	0.69603	0.30552	T	0.2233183	0.44950	0.079720356	0.17970	0.2233183	0.44950	0.079720356	0.17970	-4.285	0.40862	T	.	.	0.097	0.17700	B	.;.;.	.;.;.	2.630513	0.34205	19.56	0.99903013640080063	0.97426	0.66780	0.33198	D	AEFDBI	0.201018	0.32771	N	-0.0250777504390442	0.40722	2.423252	-0.0160301120434167	0.38990	2.305165	0.999827635384925	0.43622	0.740787	0.97801	0	0.610034	0.51514	0	0.767554	0.98243	0	0.655142	0.61905	0	.	.	4.22	3.32	0.37134	0.875000	0.27729	1.048000	0.23614	-0.105000	0.15698	0.995000	0.38783	0.999000	0.35428	0.740000	0.35438	0.0:0.2038:0.7962:0.0	10.048	0.41374	841	0.37094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1724.33	34	chr9	113479524	.	G	A	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.123;SOR=0.74	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N,RGS3:NM_001322215:exon2:c.C440A:p.T147N,RGS3:NM_001282922:exon3:c.C386A:p.T129N,RGS3:NM_001351526:exon4:c.C386A:p.T129N,RGS3:NM_130795:exon11:c.C1580A:p.T527N,RGS3:NM_001282923:exon18:c.C2093A:p.T698N,RGS3:NM_144488:exon21:c.C2423A:p.T808N	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.05263	4966.81	34	chr9	113583835	.	C	A	4966.81	.	AC=2;AF=0.053;AN=38;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.04;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4994,465,0	18	1	0	0
chr9	114008528	114008528	C	T	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon8:c.C632T:p.P211L,ZNF618:NM_001318041:exon8:c.C632T:p.P211L,ZNF618:NM_133374:exon8:c.C632T:p.P211L,ZNF618:NM_001318042:exon9:c.C728T:p.P243L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.02618695804	.	0.000599042	2.54e-05	0.0001	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs531098757	9.578e-06	9.577e-06	8.168e-06	1.1e-05	5.974e-05	5.56e-06	4.35e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	8.994e-06	0	0	3.94e-05	3.937e-05	6.424e-05	1.343e-05	0.0002	1.714e-05	1.129e-05	5.278e-05	2.833e-05	4.812e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.645	0.72154	T	0.004	0.74150	D	0.998	0.77913	D	0.866	0.61580	P	0.000863	0.41335	D	0.251889	0.996469	0.43255	D	0.805	0.20218	L	4.36	0.19166	T	-1.25	0.54217	N	0.697	0.73015	-1.1124	0.02872	T	0.079	0.31284	T	10	0.06596288	0.08977	T	0.026187	0.49115	D	0.154	0.40340	0.515	0.61459	0.117191471859	0.11215	0.4569200866594674	0.45610	1.15424711158	0.79313	0.582440853119	0.50429	T	0.026807	0.19761	T	-0.229611	0.16700	T	-0.38545	0.35085	T	0.452551305294037	0.30891	T	0.968903	0.88767	D	0.05157224	0.09489	0.054561388	0.09408	0.05157224	0.09489	0.054561388	0.09407	-4.25	0.27470	T	.	.	0.142	0.42244	B	.;.;.;.;.	.;.;.;.;.	5.154608	0.86348	28.9	0.99861918251391035	0.94002	0.84139	0.43223	D	AEFDBI	0.291531	0.40264	N	0.530119233595926	0.68879	5.278426	0.607134988764905	0.75458	6.313861	0.999999961632585	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	5.239000	0.65196	7.637000	0.63009	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.583	0.87871	824	0.40336	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2445.81	33	chr9	114008528	.	C	T	2445.81	.	AC=2;AF=0.053;AN=38;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.76;SOR=1.012	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	18	1	0	0
chr9	114076600	114076600	C	T	exonic	AMBP	.	stopgain	AMBP:NM_001633:exon2:c.G258A:p.W86X	.	422	1097	3	0	0	3	0.0013655	0.5767	0.688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs535941759	5.475e-06	5.472e-06	1.362e-06	9.629e-06	0.0003	2.36e-06	1.7e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.994e-07	3.313e-05	3.479e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.160054	0.17692	N	0.547781	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.901	0.90138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332981	0.85361	D	0.422055	0.92809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant	High	8.911513	0.98196	39	0.99552664837592242	0.71273	0.77498	0.38111	D	AEFDBHCI	0.698574	0.65621	D	0.669143680922428	0.77613	6.708433	0.424871363085941	0.63117	4.53939	0.999999994095814	0.74766	0.631981	0.41245	0	0.573888	0.26702	0	0.779548	0.98927	0	0.530356	0.10902	0	.	.	3.86	1.89	0.24700	1.616000	0.36543	4.024000	0.41277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.2215:0.5635:0.215:0.0	5.823	0.17796	697	0.58201	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4091.81	33	chr9	114076600	.	C	T	4091.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.82;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	1	0	0
chr9	114093239	114093239	-	GGTGCTCCCCTGGCAGGC	exonic	KIF12	.	nonframeshift insertion	KIF12:NM_138424:exon13:c.1171_1172insGCCTGCCAGGGGAGCACC:p.H390_H391insRLPGEH	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448413860	4.856e-05	4.652e-05	4.228e-05	5.5e-05	0.0004	3.891e-05	3.561e-05	0.0002	0.0001	0	0	0.0001	2.777e-05	0	0.0004	3.614e-05	5.167e-05	0.0003	6.579e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.29	34	chr9	114093239	.	T	TGGTGCTCCCCTGGCAGGC	588.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=-0.285;SOR=0.639	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,1024	18	0	1	0
chr9	114168631	114168631	T	C	exonic	COL27A1	.	nonsynonymous SNV	COL27A1:NM_032888:exon3:c.T1076C:p.I359T	.	.	.	.	.	.	.	.	.	.	.	1097528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0790538102245	0.0004	.	0.0002	0.0012	0.0002	0	0	7.496e-05	0	0	0.0001294	20	154602	rs145777803	7.867e-05	7.867e-05	7.895e-05	7.838e-05	0.0011	6.667e-05	6.201e-05	0.0008	0.0008	0.0011	0.0002	0.0015	0	0	0	9.892e-06	0.0003	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0011	0.0003	0.0003	0.0008	0.0007	0.0011	0	0.0001	0.0009	0	0	0.0034	4.412e-05	0.0005	0	0.709	0.18889	T	0.609	0.07716	T	0.0	0.21002	B	0.0	0.15521	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-2.48	0.90735	D	0.19	0.08495	N	0.124	0.11626	-0.7444	0.58226	T	0.406	0.75600	T	9	0.010477424	0.00233	T	0.079054	0.73145	D	0.260	0.57221	.	.	0.400930682813	0.39710	0.02882939899928096	0.02832	0.141643471752	0.15964	0.301655381918	0.10647	T	0.001713	0.01442	T	-0.338668	0.05481	T	-0.304802	0.44214	T	0.00423411789082695	0.00045	T	0.69823	0.30825	T	0.023588305	0.01110	0.032588482	0.02018	0.023588305	0.01110	0.032588482	0.02018	-1.591	0.01961	T	.	.	0.124	0.54982	B	.;.	.;.	0.433469	0.08038	4.759	0.63926336416140195	0.07354	0.00732	0.03068	N	AEFDBI	0.038690	0.05512	N	-1.18956897433442	0.05157	0.2344315	-1.19575611847602	0.05980	0.2865158	0.998537631254754	0.37148	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.45	1.03	0.19161	-0.933000	0.04067	0.041000	0.13868	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.643000	0.32503	0.1634:0.1997:0.372:0.2649	0.761	0.00943	336	0.86165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3620.33	36	chr9	114168631	.	T	C	3620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.469;DP=1113;ExcessHet=0;FS=13.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.688;SOR=0.292	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1236	18	0	1	0
chr9	114250657	114250657	G	A	exonic	COL27A1	.	nonsynonymous SNV	COL27A1:NM_032888:exon25:c.G3022A:p.V1008M	.	421	1099	2	0	0	2	0.000909091	.	.	.	1075885	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.0609858783228	0.0002	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs139143802	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	8.972e-05	6.716e-05	3.838e-05	0	3.747e-05	0.0007	0.0001	0.0003	2.319e-05	0.0001	0.0001	8.991e-05	0.0001	0.0002	6.51e-05	5.322e-05	7.908e-05	5.994e-05	0.0001	0	0	0	0.0002	0	0	0.0001	0	0	0.164	0.23360	T	0.131	0.34596	T	0.016	0.17332	B	0.007	0.12992	B	.	.	.	.	0.999229	0.21485	N	0.725	0.18768	N	-3.26	0.93587	D	-0.79	0.21860	N	0.22	0.24634	-0.3652	0.73108	T	0.599	0.85735	D	9	0.12942529	0.24626	T	0.060986	0.68182	D	0.162	0.41843	.	.	0.392737583364	0.38890	0.5475115561701354	0.54677	0.240987471406	0.26633	0.330290496349	0.14978	T	0.005404	0.04851	T	-0.27777	0.10906	T	-0.304709	0.44226	T	0.02706746943295	0.01553	T	0.773923	0.40554	T	0.035681944	0.04245	0.069743775	0.14734	0.035681944	0.04245	0.069743775	0.14734	-3.882	0.22032	T	0.20173115569304112	0.26809	0.082	0.08657	B	.	.	1.558274	0.19961	14.52	0.96851164973279791	0.31342	0.26049	0.22880	N	AEFBCIJ	0.066396	0.12999	N	-0.589057811973745	0.19275	1.007566	-0.499793484160311	0.22160	1.202265	0.999601479230614	0.40866	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.26	-0.597	0.11069	0.126000	0.15597	-1.205000	0.06030	0.676000	0.76740	0.815000	0.29920	0.000000	0.08366	0.995000	0.73285	0.3917:0.0:0.6083:0.0	9.283	0.36902	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1434.33	117	chr9	114250657	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=760;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.592;SOR=0.536	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1298	18	0	1	0
chr9	114324867	114324867	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon4:c.G406A:p.D136N	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00368741063697	.	.	8.241e-05	0	0.0003	0	0	2.998e-05	0.0011	0.0002	6.47e-05	10	154602	rs199956795	7.114e-05	7.388e-05	6.534e-05	7.701e-05	0.0003	5.98e-05	5.588e-05	0.0002	0.0002	0	0.0003	0	7.557e-05	0	0.0003	5.306e-05	0.0002	0.0002	2.629e-05	3.94e-05	2.569e-05	2.691e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.011	0.55530	D	0.098	0.39040	T	.	.	.	.	.	.	0.001604	0.38497	N	0.246842	1	0.08975	N	.	.	.	2.88	0.10291	T	-2.88	0.60507	D	0.409	0.44952	-1.0691	0.09612	T	0.034	0.14813	T	10	0.17609635	0.32576	T	0.003687	0.08527	T	0.070	0.20419	0.522	0.62518	0.292062946507	0.28806	0.22076113994750426	0.21991	0.0581924861379	0.06448	0.317113995552	0.12983	T	.	.	.	-0.514522	0.00473	T	-0.67513	0.07284	T	0.218265935778618	0.21377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14015	B	.	.	3.181776	0.43193	21.7	0.99627168482585637	0.75776	0.11231	0.16496	N	AEFDBCI	0.359748	0.44996	N	-0.254715290732008	0.30915	1.728414	-0.431315315953245	0.24084	1.316872	0.9999946778494	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.24	3.29	0.36801	1.208000	0.31950	4.723000	0.44515	0.508000	0.23123	0.073000	0.22155	1.000000	0.68203	0.103000	0.18424	0.1404:0.0:0.8596:0.0	7.429	0.26286	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1803.33	149	chr9	114324867	.	G	A	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=766;ExcessHet=0;FS=5.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0.98;QD=12.1;ReadPosRankSum=0.707;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr9	114325111	114325111	C	T	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon5:c.C499T:p.R167C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00594655606259	.	0.00139776	0.0003	0.0007	0.0004	0.0005	0	0.0002	0	0.0003	0.0002587	40	154602	rs3182034	0.0002	0.0003	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	0.0002	0.0008	0	0.0003	1.873e-05	0.0003	0.0001	0.0003	0.0010	0.0003	0.0006	0.0002	0.0004	0.0010	0.0002	0.0002	0.0004	0.0003	0.0002	0	0.0006	0	0.0004	9.413e-05	0	0.0003	0	0.0010	0.078	0.33923	T	0.053	0.47336	T	.	.	.	.	.	.	0.039689	0.24142	N	0.463309	1	0.08975	N	.	.	.	2.92	0.09915	T	-0.83	0.22727	N	0.352	0.39356	-0.9894	0.32753	T	0.010	0.03719	T	10	0.019061506	0.00421	T	0.005947	0.15520	T	0.077	0.22490	.	.	0.318828661733	0.31499	0.4019293164198957	0.40108	0.0484704390653	0.05293	0.29114612937	0.09089	T	.	.	.	-0.472758	0.00817	T	-0.542216	0.18079	T	0.0319993276099982	0.02307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30130	B	.	.	2.675675	0.34894	19.75	0.96603082795995965	0.30412	0.03784	0.09106	N	AEFDBI	0.543389	0.55873	D	-0.74538554770408	0.14759	0.7379393	-0.791118088925651	0.14713	0.770191	0.999977254964329	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.24	2.35	0.28166	1.942000	0.39870	5.106000	0.47475	-1.461000	0.01082	0.084000	0.22438	1.000000	0.68203	0.003000	0.05239	0.1104:0.1957:0.6939:0.0	6.185	0.19708	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	377.33	43	chr9	114325111	.	C	T	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.17;DP=723;ExcessHet=0;FS=16.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.27;MQRankSum=-7.942;QD=4.34;ReadPosRankSum=-0.674;SOR=2.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1196:.	18	0	1	0
chr9	114325121	114325121	A	G	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon5:c.A509G:p.K170R	.	401	1116	5	0	0	5	0.00223514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.0081869	0.0068	0.0009	0.0355	0.0199	0.0089	0.0010	0.0055	0.0061	0.0060284	932	154602	rs3182041	0.0027	0.0029	0.0028	0.0026	0.0284	0.0026	0.0026	0.0271	0.0266	0.0003	0.0284	0.0007	0.0210	0.0089	0.0007	0.0005	0.0031	0.0065	0.0034	0.0039	0.0025	0.0044	0.0188	0.0032	0.0031	0.0157	0.0146	0.0007	0	0.0129	0.0006	0.0188	0.0105	0	0.0005	0.0047	0.0077	0.483	0.08164	T	0.331	0.18505	T	.	.	.	.	.	.	0.794680	0.09370	N	0.909326	1	0.08975	N	.	.	.	2.9	0.10101	T	-1.11	0.28703	N	0.149	0.15187	-0.9381	0.42916	T	0.012	0.04653	T	10	0.0033569932	0.00058	T	.	.	.	0.015	0.02232	.	.	0.134241683229	0.13084	0.13767854731450643	0.13691	0.0368184653303	0.03901	0.270562678576	0.06214	T	.	.	.	-0.655372	0.00067	T	-0.691175	0.06322	T	0.00336366837632243	0.00035	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00742	B	.	.	1.639225	0.20919	14.97	0.45165816637848777	0.03525	0.03769	0.09084	N	AEFDBI	0.325280	0.42691	N	-1.54747194815452	0.01549	0.06768006	-1.5700945147274	0.01841	0.08388226	0.999968234965424	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.95	0.07135	0.337000	0.19582	1.642000	0.27798	-1.187000	0.01379	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.5481:0.1373:0.1806:0.1341	1.798	0.02881	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002188	0.000000	0.001362	0.000000	0.000000	0.000000	0.009868	0.000000	0.02632	294.33	43	chr9	114325121	.	A	G	294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=727;ExcessHet=0;FS=11.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.02;MQRankSum=-8.517;QD=3.34;ReadPosRankSum=0.423;SOR=2.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1196:.	18	0	1	0
chr9	114329923	114329923	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C19T:p.L7F	.	456	1055	10	1	0	12	0.00565504	.	.	.	2826335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0045	0.00419329	0.0106	0.0093	0.0128	0	0.0047	0.0137	0.0055	0.0028	0.0010373	27	26028	rs143336597	0.0030	0.0031	0.0031	0.0030	0.0100	0.0030	0.0029	0.0075	0.0067	0.0059	0.0049	0.0312	0	0.0019	0.0100	0.0024	0.0059	0.0014	0.0042	0.0043	0.0041	0.0043	0.0046	0.0038	0.0037	0.0039	0.0037	0.0046	0	0.0046	0.0292	0.0003	0.0027	0.0207	0.0030	0.0079	0.0011	0.103	0.30097	T	0.011	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.007475	0.31378	N	0.203527	1	0.08975	N	2.14	0.59869	M	2.54	0.13916	T	-2.82	0.59545	D	0.33	0.37093	-0.9558	0.39952	T	0.166	0.50372	T	10	0.0045836866	0.00095	T	.	.	.	0.054	0.15330	.	.	0.31501682445	0.31101	0.3073696957865565	0.30649	1.63474285478	0.89300	.	.	.	0.090214	0.38538	T	-0.506014	0.00529	T	-0.498539	0.22499	T	0.0358126079362016	0.02948	T	0.660634	0.26999	T	0.100625806	0.23761	0.111952335	0.27009	0.100625806	0.23761	0.111952335	0.27008	-5.25	0.39445	T	.	.	0.13	0.27910	B	.	.	2.835497	0.37390	20.5	0.9739253131024681	0.33731	0.02043	0.06114	N	AEFDGBI	0.214987	0.34039	N	-0.153741131430986	0.35076	2.010137	-0.40007336570999	0.24996	1.371993	0.999993289566918	0.74766	0.497415	0.19182	0	0.550933	0.16991	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	2.77	1.87	0.24559	0.953000	0.28759	3.431000	0.38316	0.291000	0.18778	0.133000	0.23395	0.998000	0.33993	0.492000	0.28837	0.0:0.8448:0.0:0.1552	5.554	0.16392	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017610	0.010417	0.029086	0.008929	0.100000	0.008621	0.004000	0.004348	0.02632	419.33	41	chr9	114329923	.	C	T	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.4;MQRankSum=-1.048;QD=13.98;ReadPosRankSum=0.146;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	18	0	1	0
chr9	114330017	114330017	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.G113A:p.R38Q	.	435	1084	3	0	0	3	0.00138185	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00319489	0.0039	0.0149	0.0035	0.0104	0.0030	0.0028	0.0022	0.0023	0.0013831	36	26028	rs147969317	0.0017	0.0032	0.0017	0.0017	0.0100	0.0016	0.0016	0.0091	0.0088	0.0100	0.0016	0.0181	0.0049	0.0012	0.0034	0.0009	0.0031	0.0015	0.0034	0.0048	0.0036	0.0032	0.0077	0.0032	0.0031	0.0070	0.0067	0.0077	0	0.0010	0.0199	0.0054	0.0006	0.0073	0.0012	0.0031	0.0015	0.544	0.06713	T	0.331	0.18505	T	0.026	0.19406	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.55	0.14455	N	2.45	0.15028	T	0.49	0.02993	N	0.05	0.02179	-1.0407	0.17101	T	0.032	0.13767	T	10	0.003000021	0.00049	T	.	.	.	0.012	0.01476	.	.	0.0954503805726	0.09146	0.24244381273343107	0.24158	1.7173250147	0.90521	.	.	.	0.00128	0.00766	T	-0.452833	0.01087	T	-0.88824	0.00589	T	0.000523507168379068	0.00004	T	0.556144	0.19298	T	0.063782714	0.13466	0.058953926	0.10981	0.063782714	0.13466	0.058953926	0.10980	-1.651	0.02104	T	.	.	0.072	0.04159	B	.	.	-0.644395	0.01455	0.089	0.70322285213462099	0.09258	0.00704	0.02988	N	AEFDGBI	0.347476	0.44193	N	-1.62254332619592	0.01156	0.05024092	-1.66498243087482	0.01300	0.05866159	0.999995258515621	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.77	-2.56	0.05903	-1.109000	0.03420	-1.826000	0.04656	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3508:0.0:0.2901:0.359	2.588	0.04542	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007611	0.000000	0.013699	0.025424	0.000000	0.000000	0.000000	0.000000	0.02632	1338.33	39	chr9	114330017	.	G	A	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.422;DP=777;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.44;MQRankSum=-0.299;QD=8.98;ReadPosRankSum=0.012;SOR=0.971	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	18	0	1	0
chr9	114331843	114331843	A	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon5:c.A454T:p.T152S	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0031835660566	0.0009	.	0.0010	9.694e-05	0.0015	0	0.0003	0.0011	0.0011	0.0021	0.0008926	138	154602	rs147741369	0.0011	0.0011	0.0010	0.0013	0.0025	0.0011	0.0011	0.0023	0.0021	0.0003	0.0015	0	0	0.0003	0.0023	0.0012	0.0009	0.0025	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0012	0.0011	0.0002	0	0.0018	0	0	0.0002	0	0.0012	0.0028	0.0019	0.172	0.22660	T	0.178	0.29639	T	0.308	0.32740	B	0.07	0.27859	B	0.031559	0.25152	N	0.424494	1	0.08975	N	1.365	0.34158	L	2.7	0.12162	T	-1.66	0.39692	N	0.067	0.03956	-1.0392	0.17556	T	0.027	0.11574	T	10	0.0078189075	0.00177	T	0.003184	0.06966	T	0.018	0.03083	0.449	0.50957	0.262175524916	0.25828	0.1367720965130281	0.13601	0.0122362518792	0.01164	.	.	.	0.009763	0.08869	T	-0.532874	0.00369	T	-0.544071	0.17899	T	0.00477364013416645	0.00051	T	0.473453	0.14099	T	0.15912887	0.35762	0.11103868	0.26782	0.15912887	0.35762	0.11103868	0.26781	-3.028	0.10486	T	.	.	0.119	0.24464	B	.	.	1.032667	0.14128	10.70	0.89261857722428295	0.18647	0.07100	0.13125	N	AEFDBCI	0.286235	0.39867	N	-0.788199979316433	0.13616	0.6721083	-0.908183801315065	0.11900	0.6091076	0.999946126471463	0.47345	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.56	0.844	0.18083	0.141000	0.15897	1.516000	0.27058	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5721:0.0:0.0:0.4279	5.897	0.18186	628	0.65206	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001657	0.000000	0.001362	0.000000	0.000000	0.000000	0.003401	0.003906	0.02632	1296.33	39	chr9	114331843	.	A	T	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=801;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.46;MQRankSum=0.016;QD=9.6;ReadPosRankSum=1.84;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	18	0	1	0
chr9	114337073	114337073	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon21:c.G3944A:p.R1315Q,AKNA:NM_001317950:exon22:c.G4301A:p.R1434Q,AKNA:NM_030767:exon22:c.G4301A:p.R1434Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0550867536425	.	0.000199681	0.0005	0.0010	0	0	0	0.0006	0	0.0002	9.7e-05	15	154602	rs568398137	7.907e-05	7.935e-05	6.97e-05	8.863e-05	8.945e-05	6.706e-05	6.24e-05	7.483e-05	6.955e-05	0	7.726e-05	0	0	6.391e-05	0	8.945e-05	7.021e-05	5.044e-05	8.555e-05	8.532e-05	7.725e-05	9.422e-05	0.0002	4.964e-05	3.968e-05	5.851e-05	4.246e-05	9.647e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.949	0.56973	P	0.358	0.45392	B	.	.	.	.	0.999385	0.21275	N	2.295	0.65404	M	2.1	0.38236	T	-1.81	0.62747	N	0.321	0.47949	-1.0671	0.10062	T	0.073	0.29451	T	9	0.08497056	0.14297	T	0.055087	0.66101	D	0.116	0.32463	.	.	0.722108883045	0.71965	0.14200489681460274	0.14123	0.33842455058	0.35812	0.406647890806	0.25993	T	0.052595	0.29206	T	-0.147974	0.28628	T	-0.170896	0.57362	T	0.142778977751732	0.16512	T	0.780422	0.41514	T	0.16645344	0.36982	0.19255292	0.42775	0.16645344	0.36981	0.19255292	0.42774	-3.691	0.23458	T	.	.	0.094	0.25100	B	.;.;.;.;.	.;.;.;.;.	4.218877	0.63791	24.6	0.99914544621677392	0.98309	0.78685	0.38858	D	AEFBCI	0.177778	0.30503	N	0.0147810520345228	0.42528	2.564053	-0.0149749768244309	0.39039	2.308672	0.99827121535837	0.36679	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.26	3.43	0.38372	3.059000	0.49640	2.597000	0.33501	0.599000	0.40250	0.761000	0.29254	0.964000	0.29435	0.762000	0.36218	0.0:0.8166:0.0:0.1834	8.189	0.30518	641	0.64016	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002053	0.000000	0.004110	0.002959	0.000000	0.000000	0.003205	0.000000	0.02632	532.33	35	chr9	114337073	.	C	T	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.319;DP=603;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.317;SOR=0.191	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,909	18	0	1	0
chr9	114356021	114356021	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon13:c.C2605T:p.R869W,AKNA:NM_001317950:exon14:c.C2962T:p.R988W,AKNA:NM_030767:exon14:c.C2962T:p.R988W	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0104524498469	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763765580	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	2.236e-05	0	0	0	0	4.496e-06	0	1.159e-05	6.573e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.022	0.65728	D	1.0	0.90584	D	0.995	0.88582	D	0.000592	0.43095	D	0.103999	0.575197	0.31145	N	1.87	0.49600	L	2.49	0.17271	T	-4.45	0.77717	D	0.424	0.48411	-1.1162	0.02587	T	0.070	0.28740	T	10	0.3446837	0.51456	T	0.010452	0.27001	T	0.170	0.43303	0.254	0.19378	0.755148097852	0.75293	0.3339354947669656	0.33306	0.408458707236	0.41687	0.396902084351	0.24638	T	0.106675	0.41822	T	-0.107988	0.35101	T	-0.29604	0.45141	T	0.970694839954376	0.69042	D	0.89861	0.64536	D	0.08378527	0.19362	0.09296392	0.21935	0.08378527	0.19362	0.09296392	0.21934	-5.627	0.43246	T	.	.	0.152	0.33619	B	.;.;.;.	.;.;.;.	3.116213	0.42050	21.5	0.9975699176319619	0.84772	0.35854	0.25398	N	AEFBCI	0.154124	0.27910	N	-0.0706867474069598	0.38682	2.269361	-0.181101149509994	0.32231	1.831716	0.999965647813168	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	1.58	0.22557	0.438000	0.21277	1.417000	0.26331	-0.140000	0.12423	0.885000	0.31090	1.000000	0.68203	0.011000	0.09372	0.0:0.102:0.3951:0.5029	5.091	0.14042	693	0.58582	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1460.33	116	chr9	114356021	.	G	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=749;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.561;SOR=0.765	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1342	18	0	1	0
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1045.61	103	chr9	114406373	.	C	G	1045.61	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.404;DP=1914;ExcessHet=0.119;FS=297.34;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.078;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800:.	17	0	1	1
chr9	114406373	114406373	C	T	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165A:p.A389T,WHRN:NM_001083885:exon9:c.G1069A:p.A357T,WHRN:NM_001173425:exon9:c.G2218A:p.A740T,WHRN:NM_015404:exon9:c.G2218A:p.A740T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104043195806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.06	0.45744	T	0.935	0.52277	P	0.63	0.51761	P	0.000095	0.51296	D	0.131649	0.999892	0.50595	D	2.3	0.65703	M	3.99	0.08547	T	-0.71	0.20145	N	0.07	0.07673	-1.1382	0.01427	T	0.033	0.14377	T	10	0.23528337	0.40585	T	0.010404	0.26893	T	0.069	0.20116	0.137	0.04097	0.42886291518	0.42503	0.25401667336260264	0.25315	0.172866943843	0.19464	0.432506769896	0.29552	T	0.111134	0.42639	T	-0.192809	0.21846	T	-0.514733	0.20829	T	0.731518745422363	0.42289	D	0.846915	0.56692	T	0.0768896	0.17418	0.16126977	0.37520	0.0768896	0.17418	0.16126977	0.37519	-3.886	0.23759	T	.	.	0.116	0.23395	B	.;.;.	.;.;.	4.606593	0.73013	25.9	0.99781838925411637	0.86867	0.81744	0.41087	D	AEFDBI	0.189864	0.31710	N	0.259724711640337	0.54121	3.578562	0.263145628950101	0.53402	3.509227	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1045.61	103	chr9	114406373	.	C	T	1045.61	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.404;DP=1914;ExcessHet=0.119;FS=297.34;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.078;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800:.	17	0	1	1
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,45:205:99:.:.:304,0,3153:.	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:190,0:190:0:.:.:0,0,3381:.	8	0	10	1
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.02632	2715.33	187	chr9	114504573	.	T	A	2715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=909;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.143;SOR=0.772	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1412	18	0	1	0
chr9	115078190	115078190	G	C	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon7:c.C2427G:p.I809M	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00878347781604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.052	0.48594	T	0.062	0.43974	B	0.157	0.41466	B	0.031649	0.25138	N	0.455157	0.999371	0.21289	N	1.385	0.34509	L	0.37	0.57729	T	-1.49	0.42957	N	0.174	0.18649	-0.9607	0.39050	T	0.093	0.35363	T	10	0.062754124	0.08071	T	0.008783	0.23172	T	0.167	0.42761	0.523	0.62668	0.214338557667	0.21045	0.4477584377675798	0.44693	0.180758632047	0.20328	0.269158244133	0.06031	T	0.154346	0.49559	T	-0.211229	0.19206	T	-0.541193	0.18179	T	0.219562339362808	0.21442	T	0.683132	0.31835	T	0.22218545	0.44813	0.14378494	0.34159	0.22218545	0.44812	0.14378494	0.34158	-7.503	0.64898	D	0.2211935355224981	0.29828	0.055	0.00693	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.303227	0.00050	0.001	0.76664735961462804	0.11559	0.01490	0.04948	N	AEFBI	0.096934	0.19560	N	-1.85664557184186	0.00421	0.01810092	-2.08429198307386	0.00201	0.008876923	0.999999999991933	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.48	-11.0	0.00133	-6.348000	0.00086	-9.012000	0.00880	-2.399000	0.00295	0.000000	0.06391	0.000000	0.08366	0.410000	0.27006	0.2957:0.1899:0.2907:0.2238	0.797	0.01001	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	39	chr9	115078190	.	G	C	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.134;DP=775;ExcessHet=0;FS=3.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.66;SOR=0.423	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	0
chr9	115086112	115086112	C	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon3:c.G1619T:p.G540V	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	0.0376669820133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.0	0.90584	B	0.002	0.97372	B	0.000000	0.84330	D	0.000000	1	0.81001	D	4	0.96753	H	-1.99	0.85320	D	-7.56	0.96395	D	0.889	0.95956	0.925	0.96024	D	0.865	0.95519	D	10	0.99274236	0.99810	D	0.037667	0.57756	D	0.720	0.90101	0.836	0.94356	0.853756794806	0.85234	0.8637948982889296	0.86343	0.744022850646	0.63417	0.5134152174	0.40700	T	0.85413	0.96706	D	0.460126	0.92932	D	0.423163	0.92844	D	0.987529127207914	0.78003	D	0.956104	0.83363	D	0.9814649	0.99220	0.96238726	0.99098	0.9814649	0.99220	0.96238726	0.99098	-15.897	0.97602	D	0.6089105668722066	0.67637	0.853	0.84574	P	.;.;.;.;.;.	.;.;.;.;.;.	3.569333	0.50261	22.9	0.99752125889939947	0.84382	0.98593	0.84474	D	AEFBCI	0.954550	0.97174	D	0.604022915345728	0.73430	5.964618	0.555107246138679	0.71752	5.70316	1.0	0.98316	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.848000	0.85199	6.000000	0.52472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	20.380	0.98930	551	0.72115	EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;.;EGF-like domain, extracellular|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2298.33	158	chr9	115086112	.	C	A	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1861;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.58;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,106,1292:.	18	0	1	0
chr9	116863593	116863593	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.C1877T:p.S626L,ASTN2:NM_001365068:exon11:c.C2030T:p.S677L,ASTN2:NM_001365069:exon11:c.C2018T:p.S673L	.	425	1091	6	0	0	6	0.00274223	.	.	.	723289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0279527608247	0.0014	0.00299521	0.0019	0.0004	0.0007	0	0	0.0020	0.0044	0.0046	0.0018693	289	154602	rs56153291	0.0019	0.0019	0.0018	0.0021	0.0047	0.0019	0.0019	0.0043	0.0042	0.0001	0.0008	0	0	0.0003	0.0017	0.0020	0.0017	0.0047	0.0014	0.0014	0.0013	0.0016	0.0054	0.0013	0.0012	0.0038	0.0032	0.0003	0	0.0013	0	0	0.0002	0	0.0022	0.0014	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.384	0.44570	B	0.023	0.29851	B	0.000471	0.44119	D	0.155416	0.97076	0.81001	D	0.55	0.14455	N	2.69	0.14160	T	-2.2	0.49519	N	0.663	0.67218	-1.0569	0.12543	T	0.029	0.12585	T	9	0.008099645	0.00184	T	0.027953	0.50703	D	0.170	0.43303	.	.	0.043077524339	0.03247	0.6465180366261594	0.64586	0.206788434855	0.23110	0.520252048969	0.41662	T	0.040822	0.25655	T	-0.39092	0.02654	T	-0.331971	0.41249	T	0.063643542392944	0.07729	T	0.955504	0.83071	D	0.19052653	0.40642	0.25663295	0.51367	0.19052653	0.40641	0.25663295	0.51366	-7.829	0.65392	D	.	.	0.212	0.43989	B	.;.;.	.;.;.	4.993013	0.82791	27.9	0.9987140796684989	0.94902	0.98812	0.87175	D	AEFI	0.865868	0.78510	D	0.31843626131489	0.57094	3.875675	0.46635079093844	0.65774	4.866404	0.999999999999997	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.559000	0.97245	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	703.33	46	chr9	116863593	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.415;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	18	0	1	0
chr9	119167448	119167448	G	A	exonic	BRINP1	.	nonsynonymous SNV	BRINP1:NM_014618:exon8:c.C1922T:p.S641L	.	.	.	.	.	.	.	.	.	.	.	700772	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00319489	0.0073	0.0013	0.0020	0.0001	0.0178	0.0104	0.0066	0.0015	0.0071215	1101	154602	rs139063583	0.0089	0.0089	0.0089	0.0089	0.0100	0.0088	0.0087	0.0099	0.0098	0.0010	0.0021	0.0029	0	0.0204	0.0003	0.0100	0.0074	0.0019	0.0073	0.0073	0.0072	0.0074	0.0117	0.0069	0.0068	0.0110	0.0107	0.0016	0	0.0013	0.0032	0.0002	0.0188	0	0.0117	0.0019	0.0023	0.353	0.12187	T	0.399	0.15059	T	0.216	0.30161	B	0.028	0.21332	B	0.000007	0.62929	D	0.112090	0.999999	0.58761	D	1.01	0.25309	L	2.53	0.14038	T	-0.75	0.21003	N	0.525	0.55453	-1.0601	0.11731	T	0.015	0.05946	T	10	0.0076669157	0.00174	T	.	.	.	0.138	0.37187	.	.	0.117191471859	0.11215	0.26866108060260835	0.26779	0.39247334907	0.40423	0.734042823315	0.72097	T	0.036867	0.24264	T	-0.426653	0.01553	T	-0.373958	0.36428	T	0.0158268092588526	0.00370	T	0.916108	0.70062	D	0.12945026	0.30235	0.1501455	0.35422	0.12945026	0.30235	0.1501455	0.35422	-3.649	0.18568	T	.	.	0.129	0.27463	B	.	.	3.869771	0.56179	23.7	0.99591147055518081	0.73631	0.98651	0.85151	D	AEFBI	0.908555	0.86402	D	0.167796136201305	0.49658	3.163695	0.366752449451644	0.59523	4.130884	0.999999594771409	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	7.765000	0.84139	11.790000	0.96346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.022	0.97505	491	0.76657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	3955.33	36	chr9	119167448	.	G	A	3955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=924;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.426;SOR=0.692	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	119168138	119168138	C	T	exonic	BRINP1	.	nonsynonymous SNV	BRINP1:NM_014618:exon8:c.G1232A:p.R411Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	711731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.290	0.0195023781613	0.0012	0.000998403	0.0020	0.0025	0.0079	0.0018	0	0.0009	0.0029	0.0030	0.0015912	246	154602	rs141766717	0.0011	0.0011	0.0011	0.0012	0.0042	0.0011	0.0011	0.0037	0.0035	0.0029	0.0042	0.0010	0.0017	3.789e-05	0.0014	0.0009	0.0012	0.0021	0.0015	0.0015	0.0014	0.0017	0.0027	0.0014	0.0013	0.0021	0.0020	0.0025	0	0.0013	0.0014	0.0023	0	0	0.0011	0.0014	0.0027	0.081	0.33418	T	0.166	0.30828	T	0.993	0.65571	D	0.539	0.48797	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.355	0.33814	L	0.03	0.62183	T	-2.03	0.46673	N	0.734	0.73465	-0.6669	0.61968	T	0.244	0.61260	T	10	0.010384291	0.00231	T	0.019502	0.41878	T	0.290	0.60924	.	.	0.45353014845	0.44977	0.47781928398167317	0.47701	0.521564564814	0.49923	0.67820763588	0.64012	T	0.07047	0.33969	T	-0.178418	0.23972	T	-0.0289314	0.68440	D	0.0341375723519686	0.02660	T	0.919808	0.70989	D	0.28364098	0.51395	0.23070976	0.48182	0.28364098	0.51395	0.23070976	0.48181	-3.512	0.16600	T	.	.	0.085	0.10256	B	.	.	4.456668	0.69330	25.4	0.99926436316716016	0.99103	0.96305	0.68491	D	AEFDBI	0.744566	0.68751	D	0.536479780268938	0.69261	5.332153	0.598708512364187	0.74847	6.207233	0.999999999999958	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	4.964000	0.63410	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.821	0.96592	494	0.76445	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.005051	0.000000	0.002924	0.000000	0.000000	0.003086	0.000000	0.02632	954.33	36	chr9	119168138	.	C	T	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=738;ExcessHet=0;FS=6.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.68;SOR=1.382	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	120402961	120402961	G	C	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon31:c.C4462G:p.L1488V,CDK5RAP2:NM_001011649:exon33:c.C4915G:p.L1639V,CDK5RAP2:NM_018249:exon34:c.C5152G:p.L1718V	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	YES	168716	Microcephaly_3,_primary,_autosomal_recessive|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0011488,MedGen:C1858108,OMIM:604804,Orphanet:2512|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0125930482932	0.0007	0.000798722	0.0010	0.0004	0.0015	0	0	0.0011	0.0022	0.0013	0.0009573	148	154602	rs141004029	0.0009	0.0009	0.0009	0.0010	0.0021	0.0009	0.0009	0.0013	0.0012	0.0001	0.0005	0	0	3.744e-05	0.0021	0.0010	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0008	0.0001	0.0033	0.0005	0	0	0	0	0.0010	0	0.0006	0.019	0.50132	D	0.038	0.54159	D	0.002	0.29802	B	0.003	0.24676	B	0.280677	0.14951	N	0.524574	0.999999	0.08975	N	1.735	0.44892	L	0.73	0.50721	T	-1.21	0.38540	N	0.229	0.25745	-0.9950	0.31299	T	0.082	0.32207	T	10	0.01521641	0.00319	T	0.012593	0.31297	T	0.069	0.20116	.	.	0.262175524916	0.25828	0.10212146090955534	0.10142	0.0759444557685	0.08528	0.264352828264	0.05420	T	0.129	0.45765	T	-0.512091	0.00488	T	-0.548893	0.17432	T	0.00350000421217038	0.00037	T	0.814918	0.48193	T	0.027340295	0.01911	0.04408644	0.05634	0.027340295	0.01911	0.04408644	0.05634	-4.381	0.29298	T	.	.	0.096	0.18331	B	.;.;.;.;.	.;.;.;.;.	0.593348	0.09620	6.391	0.71221061163324828	0.09556	0.17725	0.19961	N	AEFDBCI	0.133686	0.25343	N	-0.951765507773095	0.09653	0.4577988	-1.09375276903406	0.07822	0.3820538	0.999971517013015	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	-4.8	0.02957	-0.008000	0.12724	1.162000	0.24560	0.618000	0.50648	0.023000	0.19925	0.002000	0.18203	0.019000	0.11356	0.2933:0.1098:0.245:0.3518	0.592	0.00682	887	0.27948	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1362.33	34	chr9	120402961	.	G	C	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.903;DP=754;ExcessHet=0;FS=3.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.074;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	18	0	1	0
chr9	120419854	120419856	AGA	-	exonic	CDK5RAP2	.	nonframeshift deletion	CDK5RAP2:NM_001272039:exon24:c.3419_3421del:p.F1140del,CDK5RAP2:NM_001011649:exon27:c.4109_4111del:p.F1370del,CDK5RAP2:NM_018249:exon27:c.4109_4111del:p.F1370del	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1218266553	4.789e-06	5.472e-06	4.085e-06	5.501e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	2.699e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2493.29	34	chr9	120419853	.	GAGA	G	2493.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.193;DP=746;ExcessHet=0;FS=3.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.87;ReadPosRankSum=0.733;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr9	120437361	120437361	C	T	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon22:c.G3199A:p.G1067S,CDK5RAP2:NM_001011649:exon25:c.G3889A:p.G1297S,CDK5RAP2:NM_018249:exon25:c.G3889A:p.G1297S	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0115022696225	.	.	8.283e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs551032342	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	1.97e-05	1.969e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	0	0	0.0002	0.358	0.13131	T	0.177	0.58089	T	0.874	0.65571	P	0.163	0.60107	B	0.000006	0.62929	D	0.000000	0.593323	0.32475	D	0.935	0.23595	L	4.09	0.20122	T	-2.9	0.67477	D	0.247	0.27910	-0.9146	0.46272	T	0.082	0.32237	T	10	0.11935738	0.22584	T	0.011502	0.29187	T	0.076	0.22200	0.296	0.26041	0.339074221408	0.33521	0.11122540916704163	0.11051	0.0755267479925	0.08473	0.328023433685	0.14636	T	0.180324	0.53162	T	-0.229031	0.16777	T	-0.566763	0.15746	T	0.260858476161957	0.23352	T	0.873613	0.59262	D	0.22394043	0.45026	0.24253348	0.49675	0.22394043	0.45026	0.24253348	0.49674	-7.098	0.60927	T	.	.	0.172	0.37690	B	.;.;.;.;.	.;.;.;.;.	3.429578	0.47660	22.5	0.97081820627703497	0.32285	0.91476	0.53611	D	AEFDBHCIJ	0.224628	0.34883	N	0.222304362672035	0.52281	3.403278	0.312083195843835	0.56248	3.788004	0.999999981353668	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.97	0.65419	1.238000	0.32310	4.906000	0.45906	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.963000	0.52385	0.0:0.8634:0.0:0.1366	11.632	0.50440	869	0.31655	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	4780.81	33	chr9	120437361	.	C	T	4780.81	.	AC=2;AF=0.053;AN=38;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.3;SOR=1.141	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	18	1	0	0
chr9	120713769	120713769	G	A	exonic	MEGF9	.	nonsynonymous SNV	MEGF9:NM_001080497:exon1:c.C590T:p.S197L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0129696722377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.238	0.24549	T	0.288	0.32258	B	0.024	0.20255	B	0.517580	0.05183	N	1.308480	0.997269	0.22728	N	0.345	0.11182	N	2.2	0.18570	T	0.02	0.06739	N	0.05	0.02179	-1.0448	0.15884	T	0.043	0.18285	T	10	0.060022116	0.07306	T	0.01297	0.31999	T	0.050	0.13987	.	.	0.043077524339	0.03247	0.19534230288547516	0.19451	.	.	0.422787129879	0.28220	T	0.007985	0.07355	T	-0.287348	0.09903	T	-0.650532	0.08916	T	0.194180928521658	0.20088	T	0.514049	0.16524	T	0.12397682	0.29098	0.09159843	0.21544	0.12397682	0.29098	0.09159843	0.21543	-4.237	0.27284	T	.	.	0.071	0.03811	B	.	.	2.092112	0.26615	17.18	0.99611432435850134	0.74813	0.29328	0.23792	N	AEFDGBHCI	0.072543	0.14482	N	-0.50232871430772	0.22004	1.171919	-0.509913944747624	0.21884	1.185964	0.999999997254429	0.74766	0.65757	0.49021	0	0.435331	0.06439	0	0.608004	0.38603	0	0.604282	0.37693	0	.	.	3.44	3.44	0.38486	1.821000	0.38680	2.755000	0.34563	0.616000	0.49467	0.019000	0.19563	0.117000	0.22861	0.315000	0.24854	0.0:0.0:1.0:0.0	12.774	0.56816	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	678.33	53	chr9	120713769	.	G	A	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=705;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.374;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1245	18	0	1	0
chr9	120862648	120862648	A	T	exonic	PHF19	.	nonsynonymous SNV	PHF19:NM_001286842:exon6:c.T443A:p.L148Q,PHF19:NM_001286840:exon11:c.T1127A:p.L376Q,PHF19:NM_015651:exon11:c.T1070A:p.L357Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119814386458	.	.	4.118e-05	9.61e-05	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs752804322	2.873e-05	2.873e-05	2.859e-05	2.888e-05	3.237e-05	2.151e-05	1.908e-05	2.37e-05	2.103e-05	2.987e-05	0	0	0	0	0	3.237e-05	6.623e-05	1.159e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.711	0.26965	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.244929	0.15631	N	0.615353	0.90434	0.28686	N	-0.255	0.03828	N	0.98	0.42502	T	0.47	0.03090	N	0.239	0.29081	-1.1010	0.03973	T	0.047	0.20037	T	10	0.053688765	0.05599	T	0.011981	0.30135	T	0.038	0.09825	0.391	0.41443	0.110392049598	0.10638	0.27053451967306574	0.26966	0.973992778713	0.73480	0.462403327227	0.33641	T	0.004151	0.09781	T	-0.305977	0.08108	T	-0.520926	0.20202	T	0.077722033909466	0.09693	T	0.667933	0.27701	T	0.079188384	0.18076	0.095068544	0.22531	0.079188384	0.18075	0.095068544	0.22530	-4.469	0.30481	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	2.512630	0.32452	19.05	0.9761471629309012	0.34926	0.66613	0.33139	D	AEFDGBHCI	0.123857	0.23965	N	-0.56878211910695	0.19899	1.045006	-0.400272282036109	0.24989	1.371632	0.999999996438323	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.43	3.27	0.36580	1.526000	0.35570	7.034000	0.57312	0.756000	0.94297	0.846000	0.30379	1.000000	0.68203	0.836000	0.39433	0.8296:0.0:0.0:0.1704	8.655	0.33217	915	0.20917	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	516.33	34	chr9	120862648	.	A	T	516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.271;DP=696;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=1.38;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	18	0	1	0
chr9	120905208	120905208	G	A	exonic	TRAF1	.	nonsynonymous SNV	TRAF1:NM_001190947:exon6:c.C697T:p.R233C,TRAF1:NM_005658:exon8:c.C1063T:p.R355C,TRAF1:NM_001190945:exon9:c.C1063T:p.R355C	.	.	.	.	.	.	.	.	.	.	.	2394853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.0598173458593	.	.	4.14e-05	0	0	0	0	5.567e-05	0	7.16e-05	2.59e-05	4	154602	rs201773418	1.164e-05	1.163e-05	8.173e-06	1.514e-05	5.811e-05	7.09e-06	5.8e-06	2.198e-05	1.433e-05	2.989e-05	2.247e-05	0	0	0	0	7.198e-06	3.314e-05	5.811e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.9	0.45248	T	-7.51	0.95074	D	0.599	0.62357	-0.4609	0.70037	T	0.277	0.64926	T	10	0.73978853	0.74875	D	0.059817	0.67791	D	0.358	0.67872	0.624	0.75916	0.804015504583	0.80218	0.6868445004809258	0.68624	0.953708688744	0.72737	0.826462864876	0.86020	D	0.52739	0.83582	D	0.0260518	0.55197	T	0.00419562	0.70607	D	0.974294662475586	0.70448	D	0.979842	0.94937	D	0.913	0.92604	0.7882054	0.87534	0.913	0.92605	0.7882054	0.87535	-9.229	0.69965	D	.	.	0.347	0.60334	A	.;.;.	.;.;.	5.781968	0.93528	33	0.99938181921806057	0.99698	0.80625	0.40214	D	AEFDBHCI	0.596427	0.59060	D	0.764489850613137	0.83846	8.125353	0.707295990748446	0.82934	7.891288	0.999999911616106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	5.41	4.4	0.52402	2.630000	0.46160	9.518000	0.80930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7824:0.2176	13.062	0.58421	948	0.11499	.;MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 1, MATH domain;MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 1, MATH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	34	chr9	120905208	.	G	A	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=746;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-1.322;SOR=0.893	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1283	18	0	1	0
chr9	121000045	121000045	C	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317164:exon21:c.G2569T:p.A857S	C5 deficiency	505	1015	2	0	0	2	0.000984252	.	.	.	2840709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0	0	0	0	.	0	0	0	0.000207	32	154602	rs139479771	0.0046	0.0020	0.0050	0.0042	0.0066	0.0042	0.0040	0.0060	0.0058	0.0021	0.0058	0.0015	0	0.0022	0.0021	0.0066	0.0047	0.0001	0.0049	0.0047	0.0052	0.0046	0.0079	0.0046	0.0045	0.0073	0.0071	0.0016	0.0011	0.0050	0.0047	0	0.0012	0.0035	0.0079	0.0070	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	82.33	18	chr9	121000045	.	C	A	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=336;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.33;ReadPosRankSum=-1.014;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:33:.:.:0,33,495:.	18	0	1	0
chr9	121074833	121074833	G	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon1:c.C4T:p.P2S	C5 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887105125	4.607e-05	2.226e-05	3.057e-05	5.78e-05	8.808e-05	2.771e-05	2.188e-05	5.302e-05	4.188e-05	0	0	0	0	0	0	8.808e-05	0	0	4.598e-05	4.596e-05	0	9.412e-05	0.0001	2.109e-05	1.526e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2443.33	33	chr9	121074833	.	G	A	2443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.608;DP=817;ExcessHet=0;FS=1.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.804;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	18	0	1	0
chr9	121088464	121088464	T	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001369893:exon2:c.T138G:p.F46L,CNTRL:NM_001369894:exon2:c.T138G:p.F46L,CNTRL:NM_001369896:exon2:c.T138G:p.F46L,CNTRL:NM_007018:exon3:c.T138G:p.F46L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00636475218087	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs745542511	3.422e-06	3.42e-06	4.086e-06	2.751e-06	7.564e-05	1e-06	7.3e-07	2.005e-05	1.056e-05	0	0	0	7.564e-05	0	0	8.999e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.05293	T	1.0	0.16815	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999637	0.23037	N	1.175	0.29870	L	1.94	0.22678	T	-0.24	0.11366	N	0.104	0.08925	-0.9593	0.39311	T	0.037	0.15813	T	9	0.05618441	0.06260	T	0.006365	0.16725	T	0.033	0.08068	0.385	0.40460	0.0611884634855	0.05136	0.19731643575992824	0.19648	0.0536240893065	0.05918	0.427393049002	0.28852	T	0.007754	0.07654	T	-0.431146	0.01459	T	-0.687959	0.06508	T	0.0164210592458696	0.00409	T	0.622538	0.23960	T	0.05351543	0.10138	0.051739924	0.08386	0.05351543	0.10137	0.051739924	0.08385	-2.056	0.03400	T	.	.	0.304	0.58245	B	.;.;.	.;.;.	1.481720	0.19071	14.08	0.81455498772721169	0.13694	0.49094	0.28355	N	AEFGBI	0.049092	0.08445	N	-0.808649005149708	0.13089	0.6423894	-0.748219227716517	0.15766	0.8308035	0.999853043085867	0.44174	0.538715	0.22204	0	0.633563	0.54681	0	0.618467	0.43123	0	0.528226	0.09195	0	.	.	5.54	0.221	0.14559	1.003000	0.29410	0.789000	0.21551	-0.169000	0.11342	0.818000	0.29961	0.999000	0.35428	0.613000	0.31716	0.2713:0.0759:0.1412:0.5116	2.046	0.03345	891	0.26808	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	36	chr9	121088464	.	T	G	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.247;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1391	18	0	1	0
chr9	121135981	121135981	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon4:c.A545G:p.Q182R,CNTRL:NM_001369892:exon4:c.A545G:p.Q182R,CNTRL:NM_001369893:exon14:c.A2201G:p.Q734R,CNTRL:NM_001369895:exon14:c.A1700G:p.Q567R,CNTRL:NM_001369894:exon15:c.A2258G:p.Q753R,CNTRL:NM_007018:exon15:c.A2201G:p.Q734R	.	435	1085	2	0	0	2	0.00092081	0.8508	0.506	.	723303	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0051	0.00419329	0.0016	0.0173	0.0005	0	0	1.632e-05	0	0.0001	0.0014036	217	154602	rs79192016	0.0005	0.0005	0.0005	0.0005	0.0180	0.0005	0.0005	0.0168	0.0163	0.0180	0.0005	0	0	1.882e-05	0.0011	2.003e-05	0.0011	5.89e-05	0.0050	0.0050	0.0051	0.0049	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0012	0	0	0	0	5.879e-05	0.0019	0.0004	0.07	0.35349	T	0.232	0.24987	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	0.541466	0.40381	D	1.43	0.35840	L	0.73	0.50721	T	-1.21	0.30762	N	0.358	0.41754	-0.8647	0.50922	T	0.067	0.27468	T	9	0.0059109926	0.00132	T	.	.	.	0.057	0.16321	.	.	0.422404719673	0.41854	0.21623464223251823	0.21539	0.051183944108	0.05630	0.321005940437	0.13574	T	0.019865	0.18476	T	-0.533845	0.00365	T	-0.525328	0.19757	T	0.0178003340410839	0.00509	T	0.680532	0.28956	T	0.095413566	0.22454	0.1701585	0.39104	0.095413566	0.22454	0.1701585	0.39104	-4.606	0.32247	T	.	.	0.097	0.15654	B	.;.;.;.	.;.;.;.	3.180395	0.43165	21.7	0.98337243197095048	0.40408	0.96162	0.67817	D	AEFBI	0.613011	0.60086	D	0.0232637612105488	0.42914	2.594771	0.161882407157873	0.47773	3.002692	0.999999985295165	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	5.216000	0.65079	6.198000	0.54856	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	1.0:0.0:0.0:0.0	15.302	0.73659	919	0.19497	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2353.33	33	chr9	121135981	.	A	G	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=791;ExcessHet=0;FS=4.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=0.588;SOR=1.109	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	18	0	1	0
chr9	121302986	121302986	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon3:c.G425T:p.R142L,GSN:NM_001127662:exon3:c.G272T:p.R91L,GSN:NM_001258029:exon3:c.G323T:p.R108L,GSN:NM_001258030:exon3:c.G296T:p.R99L,GSN:NM_001353055:exon4:c.G272T:p.R91L,GSN:NM_001353057:exon4:c.G272T:p.R91L,GSN:NM_001353062:exon4:c.G272T:p.R91L,GSN:NM_001353063:exon4:c.G305T:p.R102L,GSN:NM_001353067:exon4:c.G305T:p.R102L,GSN:NM_001353075:exon4:c.G305T:p.R102L,GSN:NM_001353077:exon4:c.G305T:p.R102L,GSN:NM_198252:exon4:c.G272T:p.R91L,GSN:NM_001127663:exon5:c.G380T:p.R127L,GSN:NM_001127664:exon5:c.G272T:p.R91L,GSN:NM_001127665:exon5:c.G272T:p.R91L,GSN:NM_001127666:exon5:c.G305T:p.R102L,GSN:NM_001127667:exon5:c.G305T:p.R102L,GSN:NM_001353056:exon5:c.G272T:p.R91L,GSN:NM_001353058:exon5:c.G272T:p.R91L,GSN:NM_001353059:exon5:c.G272T:p.R91L,GSN:NM_001353060:exon5:c.G272T:p.R91L,GSN:NM_001353061:exon5:c.G272T:p.R91L,GSN:NM_001353070:exon5:c.G305T:p.R102L,GSN:NM_001353076:exon5:c.G344T:p.R115L,GSN:NM_001353064:exon6:c.G305T:p.R102L,GSN:NM_001353065:exon6:c.G305T:p.R102L,GSN:NM_001353066:exon6:c.G305T:p.R102L,GSN:NM_001353068:exon6:c.G305T:p.R102L,GSN:NM_001353069:exon6:c.G305T:p.R102L,GSN:NM_001353071:exon6:c.G305T:p.R102L,GSN:NM_001353072:exon6:c.G305T:p.R102L,GSN:NM_001353074:exon6:c.G305T:p.R102L,GSN:NM_001353073:exon7:c.G305T:p.R102L,GSN:NM_001353053:exon12:c.G272T:p.R91L,GSN:NM_001353054:exon12:c.G272T:p.R91L	Amyloidosis, Finnish type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3142530	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00975534117397	0.0002	.	4.145e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs138153246	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0002	1.61e-05	1.417e-05	1.914e-05	1.661e-05	0	0	0	0	0	0.0002	2.698e-05	3.312e-05	0	4.6e-05	4.597e-05	0	9.416e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.231	0.18823	T	0.275	0.22761	T	0.072	0.23997	B	0.055	0.25995	B	0.000005	0.62929	D	0.104080	0.729828	0.36775	D	0.91	0.23283	L	0.67	0.52187	T	-1.65	0.59545	N	0.508	0.57263	-1.0242	0.22344	T	0.056	0.23639	T	10	0.21495125	0.38033	T	0.009755	0.25449	T	0.118	0.32913	.	.	0.647084603319	0.64416	0.6522120701850136	0.65157	0.545019556791	0.51540	0.466607928276	0.34216	T	0.029412	0.50167	T	-0.2147	0.18721	T	-0.341627	0.40159	T	0.13834595642424	0.16131	T	0.948305	0.80045	D	0.34102046	0.56360	0.23734736	0.49030	0.34102046	0.56360	0.23734736	0.49029	-6.583	0.55989	T	.	.	0.175	0.43962	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.110138	0.61357	24.3	0.99367681651522877	0.61283	0.89612	0.50188	D	AEFBCI	0.788585	0.71803	D	-0.208077951494937	0.32803	1.853986	-0.0406058209007126	0.37899	2.225388	0.999990194072184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.79	2.61	0.30255	3.899000	0.56000	3.853000	0.40098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.5019:0.0:0.4981:0.0	5.283	0.14997	932	0.16191	.;Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2524.33	33	chr9	121302986	.	G	T	2524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=800;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=1.66;SOR=0.519	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	18	0	1	0
chr9	121327383	121327383	G	A	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon13:c.G1816A:p.V606M,GSN:NM_001127662:exon13:c.G1663A:p.V555M,GSN:NM_001258029:exon13:c.G1714A:p.V572M,GSN:NM_001258030:exon13:c.G1687A:p.V563M,GSN:NM_001353078:exon13:c.G1009A:p.V337M,GSN:NM_001353055:exon14:c.G1663A:p.V555M,GSN:NM_001353057:exon14:c.G1663A:p.V555M,GSN:NM_001353062:exon14:c.G1663A:p.V555M,GSN:NM_001353063:exon14:c.G1696A:p.V566M,GSN:NM_001353067:exon14:c.G1696A:p.V566M,GSN:NM_001353075:exon14:c.G1696A:p.V566M,GSN:NM_001353077:exon14:c.G1696A:p.V566M,GSN:NM_198252:exon14:c.G1663A:p.V555M,GSN:NM_001127663:exon15:c.G1771A:p.V591M,GSN:NM_001127664:exon15:c.G1663A:p.V555M,GSN:NM_001127665:exon15:c.G1663A:p.V555M,GSN:NM_001127666:exon15:c.G1696A:p.V566M,GSN:NM_001127667:exon15:c.G1696A:p.V566M,GSN:NM_001353056:exon15:c.G1663A:p.V555M,GSN:NM_001353058:exon15:c.G1663A:p.V555M,GSN:NM_001353059:exon15:c.G1663A:p.V555M,GSN:NM_001353060:exon15:c.G1663A:p.V555M,GSN:NM_001353061:exon15:c.G1663A:p.V555M,GSN:NM_001353070:exon15:c.G1696A:p.V566M,GSN:NM_001353076:exon15:c.G1735A:p.V579M,GSN:NM_001353064:exon16:c.G1696A:p.V566M,GSN:NM_001353065:exon16:c.G1696A:p.V566M,GSN:NM_001353066:exon16:c.G1696A:p.V566M,GSN:NM_001353068:exon16:c.G1696A:p.V566M,GSN:NM_001353069:exon16:c.G1696A:p.V566M,GSN:NM_001353071:exon16:c.G1696A:p.V566M,GSN:NM_001353072:exon16:c.G1696A:p.V566M,GSN:NM_001353074:exon16:c.G1696A:p.V566M,GSN:NM_001353073:exon17:c.G1696A:p.V566M,GSN:NM_001353053:exon22:c.G1663A:p.V555M,GSN:NM_001353054:exon22:c.G1663A:p.V555M	Amyloidosis, Finnish type, Autosomal dominant	1	1504	17	0	0	17	0.00561983	.	.	.	306669	GSN-related_disorder|Finnish_type_amyloidosis|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.157	0.0102909257659	0.0009	0.000798722	0.0018	0	0.0009	0	0	0.0010	0.0024	0.0080	0.0014877	230	154602	rs151208452	0.0013	0.0013	0.0012	0.0014	0.0063	0.0013	0.0013	0.0059	0.0057	0.0001	0.0005	3.828e-05	2.519e-05	0	0.0047	0.0011	0.0012	0.0063	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0047	0.0041	0.0002	0	0.0003	0	0	0	0	0.0012	0	0.0064	0.186	0.25255	T	0.206	0.27235	T	0.947	0.53479	P	0.457	0.46318	P	0.000001	0.84330	D	0.054041	1	0.81001	D	1.63	0.41750	L	0.38	0.57575	T	-0.35	0.13035	N	0.435	0.49692	-0.8108	0.54502	T	0.202	0.55877	T	10	0.013479739	0.00286	T	0.010291	0.26654	T	0.157	0.40909	.	.	0.699710257013	0.69711	0.521274072422366	0.52050	0.467949728639	0.46158	0.621550559998	0.55948	T	0.011543	0.37601	T	-0.260311	0.12865	T	-0.142969	0.59859	T	0.0260639488021131	0.01415	T	0.885611	0.61095	D	0.23764327	0.46630	0.23299046	0.48476	0.26292863	0.49356	0.25219017	0.50843	-5.254	0.41407	T	0.3158636378475904	0.41390	0.117	0.23848	B	.;.;.;.;.;.	.;.;.;.;.;.	3.890001	0.56592	23.8	0.9978822435845478	0.87396	0.94826	0.62463	D	AEFGBCI	0.885727	0.81650	D	0.484190684313171	0.66168	4.915186	0.587876285547052	0.74070	6.074839	0.999999999999056	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	5.892000	0.69531	5.928000	0.51272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	19.868	0.96822	968	0.07033	.;.;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005045	0.000000	0.004076	0.002924	0.000000	0.000000	0.012195	0.007634	0.02632	454.33	35	chr9	121327383	.	G	A	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.261;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=0.876;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1379	18	0	1	0
chr9	121774282	121774282	A	G	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon11:c.A2618G:p.N873S,DAB2IP:NM_032552:exon13:c.A2906G:p.N969S	.	405	1106	11	0	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00297915620576	0.0013	0.00119808	0.0015	0.0007	0.0004	0	0	0.0009	0.0047	0.0064	0.0012225	189	154602	rs143836788	0.0011	0.0011	0.0009	0.0013	0.0053	0.0011	0.0010	0.0049	0.0048	0.0001	0.0006	0	2.53e-05	0.0002	0.0028	0.0009	0.0011	0.0053	0.0008	0.0008	0.0009	0.0008	0.0042	0.0007	0.0007	0.0028	0.0023	0.0003	0	0.0005	0	0	9.459e-05	0.0103	0.0012	0.0005	0.0042	0.852	0.02958	T	1.0	0.01155	T	0.021	0.18474	B	0.031	0.21939	B	0.000000	0.84330	D	0.045993	0.999527	0.47407	D	-0.22	0.03977	N	3.31	0.06291	T	0.91	0.02368	N	0.239	0.29197	-1.0198	0.23780	T	0.010	0.03673	T	10	0.0077979863	0.00177	T	0.002979	0.06369	T	0.151	0.39764	.	.	0.43068463968	0.42687	0.39285833601891457	0.39200	0.125945359065	0.14199	0.617999732494	0.55446	T	0.03052	0.21617	T	-0.613713	0.00120	T	-0.652137	0.08805	T	0.0402202807168751	0.03731	T	0.845015	0.53551	T	0.09321113	0.21886	0.11964252	0.28876	0.09321113	0.21886	0.11964252	0.28875	0.624	0.00232	T	.	.	0.054	0.01143	B	.;.;.;.;.	.;.;.;.;.	3.098046	0.41745	21.4	0.33667180579527523	0.02018	0.81812	0.41142	D	AEFGBI	0.322074	0.42468	N	-0.392035409302794	0.25752	1.400282	-0.136406369909481	0.33935	1.946545	0.999999930379924	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	3.788000	0.55151	11.065000	0.85497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.443	0.66909	976	0.04745	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1209.33	35	chr9	121774282	.	A	G	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.466;DP=766;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.463;SOR=0.57	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1223,0,1909	18	0	1	0
chr9	122214297	122214297	C	T	exonic	LHX6	.	nonsynonymous SNV	LHX6:NM_001242335:exon3:c.G121A:p.A41T,LHX6:NM_001242334:exon5:c.G682A:p.A228T,LHX6:NM_001348190:exon5:c.G682A:p.A228T,LHX6:NM_001242333:exon6:c.G736A:p.A246T,LHX6:NM_014368:exon6:c.G769A:p.A257T,LHX6:NM_199160:exon6:c.G769A:p.A257T	.	372	1148	2	0	0	2	0.000870322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0047	0.00499201	0.0015	0.0171	0.0006	0	0	1.817e-05	0	7.504e-05	0.0012419	192	154602	rs141012050	0.0004	0.0004	0.0004	0.0003	0.0144	0.0004	0.0004	0.0133	0.0128	0.0144	0.0006	3.901e-05	0	0	0.0010	8.128e-06	0.0011	8.248e-05	0.0040	0.0040	0.0040	0.0039	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0024	0.0003	0	0	0	2.941e-05	0.0033	0.0004	0.084	0.42487	T	0.03	0.54159	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.68	0.16426	N	-3.91	0.96047	D	-1.75	0.44852	N	0.482	0.54409	0.389	0.88935	D	0.729	0.90715	D	10	0.008867353	0.00201	T	.	.	.	0.568	0.82403	.	.	0.711258371755	0.70873	0.7059164880953676	0.70533	2.76643379463	0.98772	0.782082915306	0.79242	T	0.564156	0.85461	D	-0.214922	0.18690	T	-0.0704665	0.65593	T	0.0488460848304539	0.05295	T	0.928407	0.73561	D	0.14779523	0.33770	0.15625481	0.36590	0.14779523	0.33770	0.15625481	0.36590	-9.477	0.72620	D	.	.	0.271	0.61470	B	.;.;.;.;.;.	.;.;.;.;.;.	5.639339	0.92730	33	0.99873550908518438	0.95076	0.93082	0.57281	D	ALL	0.574317	0.57715	D	0.380232242381178	0.60353	4.223155	0.381540853303743	0.60427	4.23018	0.999999999710882	0.74766	0.646311	0.45356	0	0.596491	0.49125	0	0.606814	0.37721	0	0.699875	0.68795	0	.	.	5.24	4.33	0.51083	5.664000	0.67715	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.9189:0.0:0.0811	12.618	0.55946	927	0.17636	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	955.33	43	chr9	122214297	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-0.41;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	122510992	122510992	G	T	exonic	OR1J2	.	nonsynonymous SNV	OR1J2:NM_054107:exon1:c.G191T:p.S64I	.	430	1085	7	0	0	7	0.00321543	.	.	.	2826376	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.113	0.00176290250066	0.0030	0.000199681	0.0022	0.0003	0.0004	0	0.0018	0.0031	0.0045	0.0020	0.0020181	312	154602	rs137857788	0.0023	0.0023	0.0022	0.0024	0.0035	0.0022	0.0022	0.0023	0.0023	0.0002	0.0016	0.0072	0	0.0018	0.0035	0.0024	0.0021	0.0019	0.0028	0.0028	0.0028	0.0027	0.0043	0.0025	0.0024	0.0035	0.0034	0.0003	0	0.0043	0.0104	0	0.0022	0	0.0039	0.0024	0.0019	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.97	0.72226	D	0.202783	0.16557	U	0.437600	0.992502	0.23871	N	3.09	0.87444	M	4.54	0.01963	T	-4.93	0.81755	D	0.152	0.15609	-1.0771	0.07922	T	0.041	0.17700	T	10	0.0097102225	0.00218	T	0.001763	0.02986	T	0.113	0.31778	.	.	0.516050471323	0.51246	0.13747008139480088	0.13671	0.0254987253627	0.02608	0.271674007177	0.06360	T	0.009272	0.08447	T	-0.435855	0.01368	T	-0.396656	0.33774	T	0.0600872728727388	0.07182	T	0.122788	0.00953	T	0.8630298	0.88317	0.86641306	0.92619	0.8630298	0.88319	0.86641306	0.92619	-8.785	0.66303	D	.	.	0.241	0.47568	B	.	.	3.550619	0.49907	22.9	0.9963278499090692	0.76142	0.38911	0.26095	N	AEFDBI	0.251682	0.37151	N	0.412768209716865	0.62124	4.423205	0.259588903816134	0.53195	3.48983	0.870122219736566	0.25399	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.98	0.45383	0.853000	0.27431	0.134000	0.15084	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.0:0.1496:0.8504:0.0	14.334	0.66135	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3758.33	78	chr9	122510992	.	G	T	3758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1012;ExcessHet=0;FS=3.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.993;SOR=0.903	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr9	122554125	122554125	G	A	exonic	OR1N2	.	nonsynonymous SNV	OR1N2:NM_001004457:exon1:c.G914A:p.G305D	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00540991242183	.	0.000199681	7.461e-05	0.0005	0	0	0	3.01e-05	0	0.0001	6.47e-05	10	154602	rs553892738	4.038e-05	4.036e-05	4.767e-05	3.302e-05	0.0002	3.18e-05	2.912e-05	9.767e-05	6.962e-05	0.0002	0.0001	0	0	0	0	2.789e-05	0.0001	6.964e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.092e-05	5.748e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	7.352e-05	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.011	0.15521	B	0.164574	0.03064	N	1.713730	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	.	.	-1.0337	0.19268	T	0.079	0.31254	T	10	0.040010363	0.02535	T	0.00541	0.13893	T	0.050	0.13987	.	.	0.0611884634855	0.05136	0.2265966295723656	0.22574	0.185155760088	0.20815	0.202060267329	0.00519	T	0.003776	0.03181	T	-0.44447	0.01217	T	-0.546225	0.17689	T	0.00632813847190711	0.00070	T	0.454055	0.12934	T	0.06973616	0.15302	0.08049566	0.18213	0.06973616	0.15301	0.08049566	0.18213	-8.929	0.67239	D	.	.	0.201	0.42462	B	.;.	.;.	0.349611	0.07226	3.824	0.71231292587117268	0.09559	0.02849	0.07606	N	AEFBI	0.039263	0.05679	N	-0.732989029754612	0.15099	0.7580066	-0.748014610055368	0.15770	0.8311009	3.5865358946076E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.55	1.49	0.21966	-0.702000	0.05171	-2.431000	0.03763	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1709:0.1465:0.3814:0.3011	1.279	0.01914	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	42	chr9	122554125	.	G	A	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=880;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.991;SOR=0.46	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr9	122628733	122628733	G	C	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C803G:p.P268R	.	423	1094	4	1	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0085	0.00439297	0.0087	0.0016	0.0019	0	0.0302	0.0117	0.0110	0.0014	0.0082664	1278	154602	rs41316978	0.0097	0.0097	0.0098	0.0095	0.0103	0.0095	0.0095	0.0101	0.0101	0.0016	0.0023	0.0059	2.519e-05	0.0320	0.0026	0.0103	0.0092	0.0016	0.0081	0.0081	0.0079	0.0084	0.0105	0.0077	0.0076	0.0099	0.0096	0.0013	0.0263	0.0060	0.0069	0	0.0276	0.0068	0.0105	0.0100	0.0008	.	.	.	.	.	.	0.878	0.48285	P	0.739	0.55653	P	0.000503	0.43753	D	0.000000	0.796487	0.34455	D	3.695	0.94570	H	.	.	.	.	.	.	.	.	-0.4331	0.70964	T	0.001	0.00255	T	10	0.004943043	0.00106	T	.	.	.	.	.	.	.	.	.	0.09346829369419099	0.09278	.	.	0.263441860676	0.05307	T	0.008442	0.07749	T	-0.570386	0.00220	T	-0.582702	0.14305	T	0.122890558345608	0.14710	T	0.389261	0.09643	T	0.44681746	0.63840	0.5509906	0.74038	0.44681746	0.63840	0.5509906	0.74038	-6.634	0.51312	T	.	.	0.243	0.47752	B	.	.	3.849627	0.55755	23.6	0.99713628094915463	0.81493	0.95252	0.64004	D	AEFBI	0.350617	0.44400	N	0.261147569610131	0.54193	3.585506	0.222604164859882	0.51105	3.295892	4.45929180659228E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	2.8	0.31881	1.650000	0.36908	3.933000	0.40549	-0.161000	0.11593	0.938000	0.32564	0.999000	0.35428	0.994000	0.71098	0.0:0.1457:0.703:0.1513	10.494	0.43955	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1263.33	57	chr9	122628733	.	G	C	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.863;DP=1122;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.646;SOR=0.61	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr9	122662079	122662079	C	T	exonic	OR1L1	.	nonsynonymous SNV	OR1L1:NM_001005236:exon1:c.C364T:p.R122C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0125142942316	0.0002	0.000199681	0.0001	0.0002	0	0.0012	0	4.496e-05	0	0	0.0001035	16	154602	rs146376238	6.362e-05	6.362e-05	6.262e-05	6.463e-05	0.0011	5.295e-05	4.911e-05	0.0009	0.0008	0.0006	6.708e-05	0.0002	0.0011	0	0.0003	1.079e-05	3.312e-05	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0008	0.0003	0	6.539e-05	0	0.0019	0	0	4.412e-05	0.0005	0	0.011	0.55530	D	0.016	0.60972	D	0.122	0.26746	B	0.028	0.21332	B	.	.	.	.	0.930852	0.36971	D	1.99	0.53851	M	-1.09	0.77206	T	-7.28	0.94430	D	0.192	0.29197	-0.4874	0.69100	T	0.316	0.68549	T	9	0.05673319	0.06407	T	0.012514	0.31146	T	0.153	0.40148	.	.	0.778254417172	0.77621	0.5281837991326066	0.52742	0.061800003408	0.06886	0.198114007711	0.00404	T	0.133651	0.46444	T	-0.345199	0.05036	T	-0.314183	0.43208	T	0.0944788619416709	0.11738	T	0.890711	0.62461	D	0.2666955	0.49740	0.23691316	0.48975	0.2666955	0.49740	0.23691316	0.48974	-7.534	0.57849	D	.	.	0.395	0.59274	A	.;.	.;.	2.475814	0.31918	18.89	0.89408643878937721	0.18771	0.32314	0.24555	N	AEFDGBI	0.430961	0.49345	N	-0.948149099151548	0.09734	0.4620033	-1.00711365403946	0.09628	0.4801046	0.986863056690834	0.31140	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.11	2.2	0.26966	1.479000	0.35061	-12.528000	0.00518	-1.038000	0.01672	0.812000	0.29879	0.000000	0.08366	0.007000	0.07825	0.0:0.8877:0.0:0.1123	9.536	0.38389	950	0.11238	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3750.33	33	chr9	122662079	.	C	T	3750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=876;ExcessHet=0;FS=4.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.855;SOR=0.943	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	122662610	122662610	G	C	exonic	OR1L1	.	nonsynonymous SNV	OR1L1:NM_001005236:exon1:c.G895C:p.G299R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0106	0.0109824	0.0029	0.0324	0.0011	0	0	3.023e-05	0.0022	6.155e-05	0.0028137	435	154602	rs16912062	0.0010	0.0010	0.0012	0.0009	0.0368	0.0010	0.0009	0.0351	0.0344	0.0368	0.0011	0	0	0	0.0019	2.698e-05	0.0024	6.958e-05	0.0099	0.0099	0.0097	0.0102	0.0346	0.0095	0.0094	0.0332	0.0326	0.0346	0	0.0037	0	0	0	0	2.941e-05	0.0066	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.987	0.61912	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.27	0.36146	T	-2.81	0.59389	D	0.603	0.62103	-1.0987	0.04252	T	0.032	0.13548	T	9	0.0039627254	0.00076	T	.	.	.	0.091	0.26358	.	.	0.16115917748	0.15686	0.3878819936921501	0.38703	0.184162317437	0.20708	0.231230124831	0.02060	T	0.019286	0.15396	T	-0.490043	0.00649	T	-0.449529	0.27749	T	0.0526285251107905	0.05956	T	0.960404	0.85096	D	0.65657634	0.75715	0.58835065	0.76120	0.65657634	0.75716	0.58835065	0.76121	-6.557	0.50724	T	.	.	0.578	0.67957	P	.;.	.;.	3.076678	0.41376	21.3	0.99580689654402343	0.72980	0.20109	0.20918	N	AEFBI	0.163897	0.29023	N	-0.191234486978056	0.33498	1.901151	-0.373795549451298	0.25781	1.419893	0.273133116892858	0.18913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.26	2.35	0.28166	1.507000	0.35365	2.090000	0.30543	0.526000	0.24426	0.020000	0.19661	0.053000	0.21875	0.437000	0.27605	0.1124:0.0:0.6902:0.1975	5.381	0.15495	950	0.11238	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.015152	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1916.33	33	chr9	122662610	.	G	C	1916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.828;DP=843;ExcessHet=0;FS=4.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-2.35;SOR=1.077	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,43:342:99:0|1:122724732_T_C:795,0,12281:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,33:328:99:0|1:122724732_T_C:498,0,12266:122724732	4	0	12	3
chr9	122750215	122750215	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G368A:p.R123Q	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.0293884667453	0.0003	.	0.0005	9.621e-05	0.0006	0	0	0.0007	0.0011	0.0004	0.0004722	73	154602	rs200034055	0.0005	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0001	0.0004	0	7.557e-05	1.872e-05	0.0033	0.0005	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0.0002	0	0	0.0006	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.936	0.52359	P	0.401	0.44513	B	0.000100	0.51296	D	0.000000	0.996827	0.43441	D	3.685	0.94485	H	-1.06	0.76819	T	-3.81	0.71882	D	0.722	0.82761	0.097	0.84116	D	0.461	0.79078	T	10	0.7076005	0.72837	D	0.029388	0.51906	D	0.605	0.84452	.	.	0.861613838153	0.86027	0.4320018680132829	0.43117	0.753655960627	0.63907	0.233626097441	0.02247	T	0.184124	0.53668	T	-0.0269628	0.47858	T	0.10671	0.77354	D	0.195371025171588	0.20156	T	0.885611	0.61095	D	0.8005201	0.83938	0.6463544	0.79322	0.8005201	0.83940	0.6463544	0.79322	-8.687	0.65661	D	.	.	0.224	0.45859	B	.;.	.;.	4.182065	0.62963	24.5	0.99943250607066381	0.99848	0.99501	0.96794	D	AEFGBI	0.801412	0.72712	D	0.681461827554251	0.78419	6.867603	0.682061255970301	0.81019	7.429613	0.999999999727043	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	9.697000	0.97946	2.837000	0.35056	0.563000	0.28513	1.000000	0.71638	0.198000	0.23548	0.002000	0.04165	0.0:0.0:1.0:0.0	16.721	0.85270	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	5505.33	174	chr9	122750215	.	G	A	5505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.66;DP=3082;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.5;MQRankSum=-2.011;QD=14.26;ReadPosRankSum=-2.188;SOR=0.62	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr9	122750628	122750628	T	C	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.T781C:p.F261L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00340339148663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435327330	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.06441	T	0.903	0.03021	T	0.983	0.60381	D	0.785	0.57495	P	0.001427	0.39044	N	0.114286	1	0.08975	N	-0.555	0.02337	N	1.25	0.36512	T	-2.09	0.47683	N	0.032	0.00942	-1.0210	0.23389	T	0.056	0.23677	T	10	0.106484085	0.19735	T	0.003403	0.07633	T	0.089	0.25827	0.321	0.30064	0.516326692288	0.51274	0.039967177565618774	0.03942	0.995633623574	0.74220	0.286054044962	0.08350	T	0.011628	0.10346	T	-0.269387	0.11826	T	-0.624732	0.10818	T	0.638209283351898	0.37961	D	0.565643	0.22516	T	0.16823901	0.37270	0.08717454	0.20246	0.16823901	0.37269	0.08717454	0.20245	-3.437	0.15559	T	.	.	0.569	0.71775	P	.;.	.;.	2.610055	0.33897	19.47	0.98196368321359784	0.39079	0.06255	0.12245	N	AEBI	0.142102	0.26445	N	-0.489547195260216	0.22423	1.197189	-0.539116159264432	0.21094	1.139554	0.162065771155074	0.17608	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	3.28	0.36691	-1.732000	0.01951	-0.567000	0.08447	0.634000	0.51959	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1587:0.0:0.3052:0.5361	5.541	0.16327	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2528.33	183	chr9	122750628	.	T	C	2528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=1312;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=-1.055;QD=14.12;ReadPosRankSum=0.752;SOR=0.555	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	122750665	122750665	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G818A:p.R273Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00324895895741	7.7e-05	.	4.12e-05	0	0	0	0	7.494e-05	0	0	3.23e-05	5	154602	rs370417614	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0001	1.048e-05	8.75e-06	3.348e-05	1.981e-05	5.974e-05	0	0	0.0001	1.872e-05	0	1.349e-05	0	1.159e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	7.246e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	2.94e-05	0	0	0.219	0.23905	T	0.614	0.08624	T	0.969	0.56768	D	0.726	0.55126	P	0.021225	0.26875	N	0.261257	0.999728	0.20581	N	1.4	0.35362	L	8.75	0.00077	T	-1.28	0.34198	N	0.07	0.04307	-0.8946	0.48521	T	0.000	0.00152	T	10	0.13328052	0.25366	T	0.003249	0.07177	T	0.081	0.23632	.	.	0.5343833383	0.53088	0.026230873651227015	0.02573	0.366090419773	0.38189	0.192687392235	0.00276	T	0.00996	0.09029	T	-0.444766	0.01212	T	-0.720286	0.04782	T	0.359391152858734	0.27385	T	0.786321	0.42483	T	0.12391478	0.29086	0.12528087	0.30188	0.12391478	0.29085	0.12528087	0.30187	-1.237	0.01304	T	.	.	0.094	0.16054	B	.;.	.;.	3.138167	0.42432	21.5	0.99897434572815325	0.96971	0.00987	0.03753	N	AEFBI	0.035246	0.04504	N	-0.0249574567216218	0.40727	2.423679	-0.0886480910031286	0.35857	2.07961	0.123329706191377	0.16933	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	2.32	0.27895	-0.166000	0.09943	-11.167000	0.00629	-0.141000	0.12389	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.295:0.1927:0.5123:0.0	3.593	0.07543	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2587.33	46	chr9	122750665	.	G	A	2587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=906;ExcessHet=0;FS=6.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.338;SOR=0.351	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	122789686	122789686	G	A	exonic	OR5C1	.	nonsynonymous SNV	OR5C1:NM_001001923:exon1:c.G754A:p.V252M	.	436	1063	22	1	0	24	0.0111628	.	.	.	2826378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.00517600757222	0.0013	0.00199681	0.0017	0.0007	0.0015	0	0.0002	0.0021	0.0081	0.0020	0.0017205	266	154602	rs146508500	0.0017	0.0017	0.0016	0.0018	0.0233	0.0016	0.0016	0.0200	0.0188	0.0004	0.0017	0.0078	2.523e-05	0.0002	0.0233	0.0015	0.0029	0.0019	0.0016	0.0016	0.0018	0.0014	0.0029	0.0014	0.0014	0.0022	0.0020	0.0004	0	0.0029	0.0072	0	0	0.0068	0.0020	0.0047	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.005339	0.32892	U	0.000000	0.625033	0.32739	D	3.885	0.96017	H	7.81	0.00336	T	-2.73	0.58085	D	0.653	0.66358	-1.0661	0.10293	T	0.006	0.01907	T	10	0.025064677	0.00712	T	0.005176	0.13156	T	0.171	0.43483	.	.	0.776756999272	0.77470	0.2595692646264842	0.25870	0.499129830717	0.48365	0.362951487303	0.19815	T	0.107231	0.41927	T	-0.321699	0.06759	T	-0.241042	0.50697	T	0.0987876096057365	0.12224	T	0.89551	0.63622	D	0.43727034	0.63226	0.46495244	0.68948	0.43727034	0.63227	0.46495244	0.68948	-8.41	0.63831	D	.	.	0.220	0.44999	B	.	.	4.386618	0.67666	25.1	0.99890436592550524	0.96436	0.91729	0.54139	D	AEFDBI	0.336484	0.43458	N	0.829915139401323	0.87936	9.394158	0.729575094318887	0.84622	8.344186	0.999772297159783	0.42865	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	3.041000	0.49496	5.572000	0.48946	0.656000	0.54149	0.999000	0.42656	1.000000	0.68203	0.577000	0.30821	0.0:0.0:1.0:0.0	18.253	0.89947	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.010101	0.023098	0.046784	0.000000	0.051724	0.015244	0.015152	0.05263	5111.83	34	chr9	122789686	.	G	A	5111.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=959;ExcessHet=0.119;FS=1.256;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.2;SOR=0.622	GT:AD:DP:GQ:PL	0/1:85,102:187:99:2809,0,2199	17	0	2	0
chr9	123034636	123034636	A	G	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.A70G:p.T24A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00359425	0.0012	0	0	0	0	1.501e-05	0	0.0090	0.0011061	171	154602	rs535225883	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.988e-05	2.237e-05	0	0	0	0.0003	2.608e-05	0.0007	0.0073	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	1.47e-05	0	0.0091	0.694	0.04251	T	0.834	0.03674	T	0.001	0.07471	B	0.001	0.04355	B	0.020971	0.26928	U	0.326375	1	0.81001	D	0.695	0.17993	N	1.25	0.36512	T	-0.19	0.09965	N	0.104	0.12341	-1.0690	0.09634	T	0.041	0.17785	T	10	0.0042392015	0.00085	T	.	.	.	0.111	0.31313	0.491	0.57732	0.187035705434	0.18338	0.11379438187513731	0.11307	0.198265135737	0.22201	0.415291637182	0.27188	T	0.013584	0.11722	T	-0.485325	0.00689	T	-0.464645	0.26095	T	0.102919201263208	0.12676	T	0.254375	0.03921	T	0.08963808	0.20951	0.10195523	0.24422	0.08963808	0.20951	0.10195523	0.24422	-4.136	0.25819	T	.	.	0.080	0.07937	B	.;.	.;.	2.066007	0.26268	17.06	0.873361382366589	0.17155	0.95203	0.63819	D	AEFBI	0.253642	0.37310	N	-0.418439179470542	0.24823	1.343065	-0.198735245123033	0.31584	1.788766	0.999974954854903	0.50053	0.0	0.00013	3	0.446627	0.06534	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	5.51	4.34	0.51267	4.292000	0.58826	9.346000	0.80257	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7092:0.0:0.1461:0.1447	4.575	0.11625	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2320.33	34	chr9	123034636	.	A	G	2320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=802;ExcessHet=0;FS=2.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.026;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	18	0	1	0
chr9	123236892	123237026	GGGAGGCTGAGGCAGGCGGATCACTTGCGTTCAGGAGTTCGAGACCAGCCAGGTCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATTCCAGCTACTC	-	splicing	STRBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	.	.	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	44.38	4	chr9	123236891	.	TGGGAGGCTGAGGCAGGCGGATCACTTGCGTTCAGGAGTTCGAGACCAGCCAGGTCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATTCCAGCTACTC	T	44.38	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.112;DP=64;ExcessHet=0;FS=0;InbreedingCoeff=-0.0967;MLEAC=1;MLEAF=0.028;MQ=58.76;MQRankSum=-1.643;QD=3.41;ReadPosRankSum=1.59;SOR=1.179	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,76	17	0	1	1
chr9	123363048	123363048	G	A	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon2:c.G278A:p.R93H	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	427	1074	20	1	0	22	0.0101382	.	.	.	723318	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00299521	0.0058	0.0013	0.0042	0	0.0006	0.0090	0.0068	0.0018	0.0058473	904	154602	rs138381817	0.0075	0.0075	0.0076	0.0074	0.0137	0.0073	0.0073	0.0113	0.0104	0.0011	0.0049	0.0244	7.558e-05	0.0013	0.0137	0.0082	0.0084	0.0021	0.0057	0.0057	0.0063	0.0050	0.0090	0.0054	0.0053	0.0084	0.0082	0.0013	0.0044	0.0058	0.0222	0	0.0005	0.0136	0.0090	0.0076	0.0014	0.219	0.19023	T	0.065	0.51737	T	0.229	0.30546	B	0.034	0.22546	B	0.017634	0.27675	N	0.172979	0.978769	0.39494	D	0.83	0.20963	L	0.12	0.61089	T	-1.48	0.36189	N	0.446	0.48411	-1.0160	0.25013	T	0.070	0.28609	T	10	0.01431787	0.00301	T	.	.	.	0.062	0.17934	.	.	0.697125617977	0.69451	0.12339958201605356	0.12265	0.337466723729	0.35739	0.346648484468	0.17427	T	0.08799	0.38062	T	-0.467238	0.00885	T	-0.436824	0.29164	T	0.00950651984723468	0.00123	T	0.772323	0.40460	T	0.06272982	0.13134	0.041013576	0.04567	0.06462827	0.13730	0.041013576	0.04566	-4.602	0.32197	T	0.3353484297034376	0.43328	0.084	0.09868	B	.;.	.;.	3.422175	0.47522	22.5	0.9972305768718841	0.82195	0.07994	0.13975	N	AEFGBI	0.095965	0.19381	N	-0.480311259376914	0.22727	1.215553	-0.401564169427853	0.24952	1.369	0.99996092901074	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.7	2.69	0.30923	0.990000	0.29242	7.084000	0.57482	0.665000	0.62972	0.052000	0.21487	1.000000	0.68203	0.950000	0.49671	0.104:0.1689:0.5289:0.1981	2.665	0.04732	385	0.83500	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	RP11-542K23.9	Cells_Cultured_fibroblasts	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.005051	0.008152	0.011696	0.000000	0.017241	0.009146	0.011364	0.02632	999.33	39	chr9	123363048	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.199;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.194;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr9	123382111	123382111	G	T	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2384A:p.A795D,DENND1A:NM_020946:exon22:c.C2351A:p.A784D,DENND1A:NM_001352964:exon24:c.C2534A:p.A845D	.	427	1073	21	1	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.00319489	0.0075	0.0013	0.0086	0	0.0013	0.0101	0.0079	0.0029	0.0046442	718	154602	rs189947178	0.0070	0.0069	0.0071	0.0068	0.0127	0.0068	0.0068	0.0103	0.0094	0.0011	0.0049	0.0035	2.58e-05	0.0014	0.0127	0.0081	0.0068	0.0019	0.0052	0.0052	0.0058	0.0045	0.0089	0.0049	0.0047	0.0083	0.0081	0.0013	0.0044	0.0054	0.0035	0	0.0005	0.0137	0.0089	0.0071	0.0012	0.017	0.51248	D	0.049	0.48336	D	0.926	0.51467	P	0.454	0.46241	P	0.002785	0.35935	N	0.251626	0.643062	0.32894	D	2.48	0.72069	M	3.34	0.06063	T	-0.79	0.21860	N	0.394	0.43514	-1.1363	0.01503	T	0.049	0.20750	T	10	0.00904265	0.00205	T	.	.	.	0.054	0.15330	.	.	0.151262610727	0.14761	0.49019780521108614	0.48939	1.26176195627	0.82047	0.588476777077	0.51279	T	0.031826	0.22214	T	-0.496562	0.00598	T	-0.480786	0.24364	T	0.0225354423629346	0.00969	T	0.765423	0.39305	T	0.2383643	0.46713	0.2375799	0.49059	0.2383643	0.46713	0.2375799	0.49058	-6.47	0.50054	T	.	.	0.182	0.39579	B	.	.	2.784940	0.36596	20.3	0.99404905956106893	0.62981	0.88581	0.48576	D	AEFDBI	0.519368	0.54468	D	0.0695743450438619	0.45047	2.767936	0.0600842561722556	0.42561	2.576491	0.999926650935492	0.46280	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	3.5	0.39181	2.503000	0.45067	9.814000	0.81764	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.0:0.3391:0.5308:0.1301	9.639	0.38993	379	0.83778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008105	0.005208	0.009511	0.011696	0.000000	0.017241	0.006211	0.003788	0.02632	938.33	33	chr9	123382111	.	G	T	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.444;DP=747;ExcessHet=0;FS=5.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.081;SOR=1.137	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	18	0	1	0
chr9	124313941	124313941	G	A	exonic	NEK6	.	nonsynonymous SNV	NEK6:NM_001166167:exon4:c.G304A:p.A102T,NEK6:NM_001166168:exon4:c.G250A:p.A84T,NEK6:NM_001166169:exon4:c.G325A:p.A109T,NEK6:NM_001166170:exon4:c.G250A:p.A84T,NEK6:NM_014397:exon4:c.G250A:p.A84T,NEK6:NM_001145001:exon5:c.G352A:p.A118T,NEK6:NM_001166171:exon5:c.G352A:p.A118T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0388923884493	.	.	0.0005	0	0	0	0	4.507e-05	0	0.0035	0.0003946	61	154602	rs779439151	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0	0	0	0	0.0003	4.497e-06	0.0001	0.0033	0.0001	0.0001	1.285e-05	0.0002	0.0035	7.085e-05	5.742e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.153	0.35537	T	0.215	0.34124	T	0.884	0.63424	P	0.301	0.56676	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.545	0.13751	N	-0.13	0.64818	T	-1.99	0.49352	N	0.636	0.65930	-0.7044	0.60227	T	0.264	0.63544	T	10	0.0155367255	0.00326	T	0.038892	0.58494	D	0.210	0.50028	0.385	0.40460	0.512630703386	0.50903	0.3256785202131106	0.32480	1.44436016298	0.86026	0.762965381145	0.76372	T	0.058537	0.30870	T	-0.250373	0.14053	T	-0.13294	0.60724	T	0.221004778536906	0.21514	T	0.956904	0.83632	D	0.16315146	0.36438	0.2177159	0.46447	0.16315146	0.36437	0.2177159	0.46446	-8.946	0.68619	D	.	.	0.140	0.30791	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.607011	0.73027	25.9	0.99716446411121706	0.81703	0.99182	0.92439	D	AEFGBI	0.940922	0.94352	D	0.368296548533989	0.59713	4.15293	0.408869231678934	0.62115	4.421829	0.99999999999999	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.209000	0.94206	11.606000	0.93511	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0:0.0:1.0:0.0	17.979	0.89057	594	0.68584	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1566.33	40	chr9	124313941	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=754;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.939;SOR=0.659	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q,RABEPK:NM_005833:exon5:c.C386A:p.P129Q,RABEPK:NM_001174152:exon6:c.C386A:p.P129Q	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.005051	0.027174	0.043860	0.050000	0.025862	0.015244	0.022727	0.02632	1177.33	37	chr9	125220560	.	C	A	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=887;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.124;SOR=1.012	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr9	125220573	125220573	C	-	exonic	RABEPK	.	frameshift deletion	RABEPK:NM_001174153:exon5:c.246delC:p.P84Hfs*44,RABEPK:NM_005833:exon5:c.399delC:p.P135Hfs*44,RABEPK:NM_001174152:exon6:c.399delC:p.P135Hfs*44	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00239617	0.0042	0.0011	0.0043	0	0.0009	0.0055	0.0022	0.0042	0.0011526	30	26028	rs546948946	0.0057	0.0057	0.0056	0.0059	0.0125	0.0056	0.0056	0.0102	0.0093	0.0010	0.0046	0.0039	2.519e-05	0.0008	0.0125	0.0064	0.0069	0.0040	0.0037	0.0037	0.0042	0.0031	0.0064	0.0034	0.0033	0.0059	0.0057	0.0009	0	0.0030	0.0035	0.0002	0.0003	0.0136	0.0064	0.0062	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010070	0.020202	0.010870	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	2161.29	37	chr9	125220572	.	GC	G	2161.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.207;DP=861;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.134;SOR=0.636	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr9	125238999	125238999	T	C	exonic	HSPA5	.	nonsynonymous SNV	HSPA5:NM_005347:exon5:c.A938G:p.Y313C	.	419	1101	2	0	0	2	0.000907441	.	.	.	3274388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00885872273663	.	0.000199681	0.0002	0	0	0	0	3.006e-05	0	0.0016	0.0001876	29	154602	rs545601947	0.0001	0.0001	5.991e-05	0.0002	0.0017	9.403e-05	8.885e-05	0.0014	0.0014	0	0	0	2.519e-05	5.616e-05	0	5.397e-06	6.625e-05	0.0017	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	2.404e-05	0	0	0	0	9.416e-05	0	0	0	0.0012	0.013	0.53900	D	0.046	0.49120	D	0.007	0.14184	B	0.014	0.16862	B	0.000028	0.55875	D	0.161085	0.923521	0.36749	D	.	.	.	2.91	0.10008	T	-3.41	0.67129	D	0.434	0.47301	-1.0535	0.13440	T	0.024	0.10239	T	10	0.028184682	0.00953	T	0.008859	0.23366	T	0.121	0.33580	0.412	0.44887	0.278043722374	0.27408	0.6938083611276417	0.69320	1.4171152166	0.85547	0.720081031322	0.70058	T	0.223875	0.58815	T	-0.466962	0.00888	T	-0.450798	0.27609	T	0.172097089241139	0.18722	T	0.865313	0.56401	D	0.8158379	0.84941	0.53136224	0.72921	0.8158379	0.84942	0.53136224	0.72922	-7.0	0.54034	T	.	.	0.086	0.10449	B	.	.	3.343650	0.46082	22.2	0.97667386774467202	0.35235	0.89306	0.49691	D	AEFBHCI	0.613991	0.60148	D	-0.34310773767191	0.27526	1.510926	-0.265070633763098	0.29256	1.637723	0.999999294284355	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.29	-0.246	0.12380	3.241000	0.51074	0.955000	0.22950	0.665000	0.62972	1.000000	0.71638	0.915000	0.28207	0.998000	0.85391	0.7557:0.0:0.0:0.2443	9.730	0.39525	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1940.33	38	chr9	125238999	.	T	C	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.148;SOR=0.747	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr9	126693840	126693840	G	A	exonic	LMX1B	.	nonsynonymous SNV	LMX1B:NM_001174146:exon6:c.G914A:p.G305D	Nail-patella syndrome, Autosomal dominant	16	1474	32	0	0	32	0.0107383	.	.	.	1196037	not_specified|not_provided|LMX1B-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	.	0.0013	0.00319489	0.0092	0.0101	0.0093	0	0	0.0230	0	0.0040	0.0018628	288	154602	rs150656317	0.0045	0.0042	0.0044	0.0045	0.0245	0.0043	0.0043	0.0202	0.0186	0.0036	0.0039	0.0252	0	0.0004	0.0245	0.0042	0.0059	0.0031	0.0043	0.0043	0.0043	0.0043	0.0078	0.0041	0.0040	0.0066	0.0062	0.0025	0.0121	0.0078	0.0196	0.0002	0.0004	0.0510	0.0046	0.0043	0.0033	0.463	0.08660	T	0.507	0.10930	T	0.017	0.17573	B	0.007	0.12992	B	.	.	.	.	0.999979	0.18612	N	.	.	.	-1.04	0.76561	T	1.02	0.01369	N	0.103	0.09207	-1.0176	0.24495	T	0.093	0.35498	T	8	0.0039789677	0.00077	T	.	.	.	0.108	0.30607	.	.	0.434880891158	0.43107	0.7508548163077582	0.75032	1.33916717862	0.83813	.	.	.	0.097566	0.40051	T	-0.482546	0.00715	T	-0.464692	0.26090	T	0.000464322505933536	0.00004	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-5.937	0.45749	T	.	.	0.204	0.46144	B	.;.	.;.	-0.065214	0.03855	0.832	0.30846492148849086	0.01708	0.00801	0.03263	N	AEFBI	0.036664	0.04922	N	-1.15848612729208	0.05641	0.2577192	-1.25131830733616	0.05111	0.24279	0.987308238982138	0.31233	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.02	-0.16	0.12720	-0.172000	0.09858	0.677000	0.20646	-0.939000	0.02101	0.145000	0.23581	0.035000	0.21413	0.002000	0.04165	0.0:0.2631:0.4685:0.2684	4.144	0.09675	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026846	0.006410	0.044643	0.039394	0.000000	0.029412	0.020690	0.004132	0.02632	407.33	8	chr9	126693840	.	G	A	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.022;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.494;SOR=0.793	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,854	18	0	1	0
chr9	127449331	127449331	A	G	exonic	RPL12	.	nonsynonymous SNV	RPL12:NM_000976:exon4:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.017903367915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.014	0.62352	D	0.023	0.20876	B	0.169	0.35248	B	0.000000	0.84330	U	0.000000	0.999998	0.58761	D	3.46	0.92336	M	.	.	.	-4.08	0.74742	D	0.885	0.89131	-0.0450	0.81312	T	0.477	0.79986	T	9	0.8855362	0.87879	D	0.017903	0.39776	T	0.898	0.97135	0.788	0.91068	0.869797360952	0.86853	0.8561621922693654	0.85579	0.933160951243	0.71918	0.921512067318	0.98437	D	0.227419	0.59270	T	0.457585	0.92820	D	0.419513	0.92731	D	0.984218895435333	0.75599	D	0.848015	0.53201	T	0.6813607	0.77042	0.4542548	0.68266	0.6813607	0.77044	0.4542548	0.68266	-10.194	0.75064	D	.	.	0.985	0.95023	P	.;.	.;.	4.675209	0.74757	26.2	0.99407907156774822	0.63122	0.98858	0.87789	D	AEFGBCI	0.948300	0.95977	D	0.368023709016137	0.59699	4.151361	0.437746083639085	0.63934	4.637418	0.999999999999669	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.98	4.98	0.65679	8.195000	0.89688	11.095000	0.86003	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.951	0.57797	510	0.75209	Ribosomal protein L11, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	966.33	33	chr9	127449331	.	A	G	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.25;SOR=0.811	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr9	127660064	127660064	C	T	exonic	STXBP1	.	nonsynonymous SNV	STXBP1:NM_001032221:exon5:c.C281T:p.P94L,STXBP1:NM_001374306:exon5:c.C281T:p.P94L,STXBP1:NM_001374309:exon5:c.C239T:p.P80L,STXBP1:NM_001374313:exon5:c.C281T:p.P94L,STXBP1:NM_001374314:exon5:c.C281T:p.P94L,STXBP1:NM_001374315:exon5:c.C281T:p.P94L,STXBP1:NM_003165:exon5:c.C281T:p.P94L,STXBP1:NM_001374307:exon6:c.C239T:p.P80L,STXBP1:NM_001374308:exon6:c.C239T:p.P80L,STXBP1:NM_001374310:exon6:c.C239T:p.P80L,STXBP1:NM_001374311:exon6:c.C239T:p.P80L,STXBP1:NM_001374312:exon6:c.C239T:p.P80L	Epileptic encephalopathy, early infantile, 4, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	202285	not_provided|Developmental_and_epileptic_encephalopathy|Inborn_genetic_diseases|STXBP1-related_disorder	MedGen:C3661900|MONDO:MONDO:0100620,MedGen:C5779964|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.504	0.146179005782	.	0.000399361	0.0006	0	0	0	0	0.0001	0.0011	0.0038	0.0004851	75	154602	rs200802985	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	0.0001	2.236e-05	0	0	0	0.0019	5.935e-05	0.0004	0.0038	0.0002	0.0002	6.426e-05	0.0002	0.0029	0.0001	8.718e-05	0.0018	0.0014	0	0	0	0	0	0	0.0068	0.0001	0	0.0029	0.375	0.12305	T	0.346	0.25514	T	0.884	0.49920	P	0.301	0.42079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	-1.43	0.80730	T	-2.9	0.60827	D	0.62	0.63544	-0.1807	0.78163	T	0.437	0.77663	T	10	0.015435487	0.00324	T	0.146179	0.82832	D	0.504	0.78600	0.508	0.60386	0.465294880039	0.46155	0.7702628033920702	0.76975	2.19608821648	0.95661	0.638997256756	0.58422	T	0.242093	0.95679	T	-0.30345	0.08337	T	-0.209817	0.53714	T	0.111827492650109	0.13611	T	0.928457	0.74459	D	0.30016285	0.52919	0.26165673	0.51946	0.3300729	0.55477	0.2628491	0.52082	-7.145	0.55086	T	0.2596856309852104	0.35076	0.070	0.13409	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.640773	0.73874	26.1	0.98886309382614312	0.47912	0.98517	0.83624	D	AEFBI	0.921275	0.89450	D	0.489040406360738	0.66447	4.951477	0.525591172669015	0.69719	5.40045	0.999999985240357	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	4.76	0.60189	5.970000	0.70134	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9204:0.0:0.0796	12.812	0.57026	346	0.85643	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	2847.33	34	chr9	127660064	.	C	T	2847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.57;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.23;SOR=0.674	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr9	127707145	127707145	G	T	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114T:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0140273232826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.2047346	0.36675	T	0.014027	0.33868	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839400874069591	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280822	0.10581	T	-0.641158	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.619651	0.34042	19.52	0.99634342227389694	0.76264	0.25709	0.22779	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	726.55	34	chr9	127707145	.	G	T	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13:76:99:0|1:127707145_G_T:158,0,1852:127707145	17	0	2	0
chr9	127707145	127707145	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114C:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0141487804833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.20483169	0.36688	T	0.014149	0.34071	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839401287200625	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280823	0.10581	T	-0.641159	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.593801	0.33655	19.40	0.9961891825752538	0.75293	0.24477	0.22406	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	726.55	34	chr9	127707145	.	G	C	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:63,0:76:99:0|1:127707145_G_T:158,346,2237:127707145	17	0	2	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13:76:99:0|1:127707145_G_T:158,0,1852:127707145	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:70,8:78:36:0|1:127707145_G_T:0,36,2636:127707145	10	0	7	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	1618.24	51	chr9	127707150	.	T	C	1618.24	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.516;DP=1273;ExcessHet=1.3;FS=159.969;InbreedingCoeff=-0.1413;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=0.952;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:69,8:77:33:0|1:127707145_G_T:0,33,2610:127707145	14	0	5	0
chr9	127720310	127720310	C	T	exonic	TTC16	.	nonsynonymous SNV	TTC16:NM_001317037:exon6:c.C533T:p.T178M,TTC16:NM_144965:exon6:c.C572T:p.T191M	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0268538854436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762845145	6.844e-06	6.84e-06	4.086e-06	9.63e-06	2.987e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.023	0.48186	D	0.01	0.65728	D	0.809	0.45342	P	0.157	0.34536	B	0.028838	0.01692	N	2.275950	1	0.08975	N	0.69	0.16971	N	0.63	0.53088	T	-1.81	0.42575	N	0.319	0.35938	-1.0287	0.20876	T	0.084	0.32957	T	10	0.124394596	0.23625	T	0.026854	0.49730	D	0.050	0.13987	0.293	0.25560	0.59360226722	0.59038	0.08028305149488298	0.07963	0.206451347824	0.23069	0.290739953518	0.09030	T	0.00861	0.07893	T	-0.280116	0.10654	T	-0.543289	0.17974	T	0.21707846224308	0.21317	T	0.420658	0.11177	T	0.023875207	0.01165	0.043757204	0.05515	0.023875207	0.01165	0.043757204	0.05515	-7.327	0.56387	T	.	.	0.096	0.15206	B	.	.	1.346908	0.17541	13.22	0.97494907475099546	0.34262	0.04075	0.09532	N	AEFDGBI	0.074952	0.15038	N	-0.734064839943003	0.15070	0.7562193	-0.83951137495434	0.13540	0.7029487	0.999987402268112	0.51787	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.17	0.549	0.16403	-0.285000	0.08444	-1.018000	0.06590	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2198:0.4925:0.1196:0.1681	3.062	0.05828	279	0.89001	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1797.33	36	chr9	127720310	.	C	T	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=775;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-1.458;SOR=0.48	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	18	0	1	0
chr9	127733399	127733399	G	C	exonic	TOR2A	.	nonsynonymous SNV	TOR2A:NM_001252018:exon2:c.C93G:p.I31M,TOR2A:NM_001252021:exon2:c.C93G:p.I31M,TOR2A:NM_001252023:exon2:c.C93G:p.I31M,TOR2A:NM_001085347:exon3:c.C579G:p.I193M,TOR2A:NM_001134430:exon3:c.C579G:p.I193M,TOR2A:NM_130459:exon3:c.C579G:p.I193M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.142702111063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.53172	D	0.018	0.60337	D	0.999	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.046462	1	0.81001	D	2.8	0.81625	M	-1.16	0.78082	T	-2.68	0.60507	D	0.604	0.71321	0.305	0.87635	D	0.617	0.86464	D	10	0.8381007	0.82965	D	0.142702	0.82506	D	0.598	0.84074	0.817	0.93127	0.897662601008	0.89665	0.850651754141976	0.85027	0.701817640495	0.61187	0.715422093868	0.69380	T	0.249485	0.63064	T	0.196451	0.73561	D	0.0444113	0.73216	D	0.984585583209991	0.75845	D	0.810419	0.54093	T	0.5498772	0.69949	0.3398042	0.59740	0.5498772	0.69950	0.3398042	0.59740	-9.354	0.69946	D	.	.	0.393	0.59205	A	.;.;.	.;.;.	3.754247	0.53828	23.4	0.99427888359341721	0.64130	0.94690	0.61996	D	AEFDGBI	0.697191	0.65528	D	0.6015140496006	0.73271	5.93886	0.548472625366247	0.71289	5.632505	0.999999798118246	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	4.59	0.56297	2.977000	0.48988	2.622000	0.33640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0743:0.0:0.9257:0.0	13.766	0.62478	286	0.88678	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	78.33	41	chr9	127733399	.	G	C	78.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.486;DP=957;ExcessHet=0;FS=43.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.609;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr9	127733401	127733401	T	C	exonic	TOR2A	.	nonsynonymous SNV	TOR2A:NM_001252018:exon2:c.A91G:p.I31V,TOR2A:NM_001252021:exon2:c.A91G:p.I31V,TOR2A:NM_001252023:exon2:c.A91G:p.I31V,TOR2A:NM_001085347:exon3:c.A577G:p.I193V,TOR2A:NM_001134430:exon3:c.A577G:p.I193V,TOR2A:NM_130459:exon3:c.A577G:p.I193V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.144735427078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.65419	D	0.008	0.69154	D	0.988	0.67487	D	0.965	0.76113	D	0.000000	0.84330	D	0.046462	1	0.81001	D	2.595	0.75868	M	-0.98	0.75789	T	-0.94	0.25770	N	0.314	0.36884	0.324	0.87936	D	0.599	0.85722	D	10	0.5827145	0.65939	D	0.144735	0.82697	D	0.429	0.73590	0.776	0.90157	0.849064490651	0.84761	0.6557392727841697	0.65509	0.329264048552	0.35035	0.663133621216	0.61857	T	0.073946	0.34821	T	0.0277072	0.55417	T	-0.197977	0.54839	T	0.854453265666962	0.50554	D	0.742826	0.57103	T	0.2507147	0.48075	0.21201196	0.45653	0.2507147	0.48075	0.21201196	0.45652	-5.471	0.48317	T	.	.	0.174	0.43869	B	.;.;.	.;.;.	4.466839	0.69576	25.4	0.99856125798024886	0.93458	0.94142	0.60239	D	AEFDGBI	0.542759	0.55836	D	0.712677403886688	0.80465	7.299849	0.668787338134111	0.80017	7.20631	0.999999998150523	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	3.678000	0.54361	6.197000	0.54843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.805	0.69575	286	0.88678	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	41	chr9	127733401	.	T	C	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=903;ExcessHet=0;FS=46.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.474;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr9	127890812	127890812	C	T	exonic	ST6GALNAC6	.	nonsynonymous SNV	ST6GALNAC6:NM_001287000:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001287001:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001287002:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001286999:exon5:c.G529A:p.E177K,ST6GALNAC6:NM_013443:exon5:c.G529A:p.E177K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00887410427006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.46910	T	0.236	0.32355	T	0.387	0.34533	B	0.388	0.44086	B	0.000231	0.47286	D	0.245968	1	0.81001	D	1.42	0.35681	L	1.82	0.25018	T	-1.59	0.39119	N	0.563	0.70439	-0.9865	0.33469	T	0.082	0.32178	T	10	0.23160103	0.40137	T	0.008874	0.23390	T	0.132	0.35948	0.499	0.58991	0.37262878642	0.36876	0.693180553437494	0.69258	1.04342931365	0.75877	0.720459878445	0.70114	T	0.059046	0.31008	T	-0.0129965	0.49845	T	-0.256445	0.49178	T	0.899720788002014	0.55207	D	0.974353	0.90870	D	0.17266275	0.37970	0.1839912	0.41424	0.17266275	0.37969	0.1839912	0.41423	-8.04	0.63639	D	.	.	0.231	0.52728	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.289794	0.45108	22.1	0.99846230029536509	0.92576	0.89597	0.50163	D	AEFGBI	0.336909	0.43488	N	0.0674434909399498	0.44948	2.759751	0.162777959102058	0.47823	3.006811	0.999999990375533	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.617000	0.53923	5.977000	0.52101	0.594000	0.32500	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.196	0.89756	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1999.33	33	chr9	127890812	.	C	T	1999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=824;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.363;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	18	0	1	0
chr9	128066975	128066975	C	T	exonic	NAIF1	.	nonsynonymous SNV	NAIF1:NM_197956:exon1:c.G127A:p.A43T	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00509239297742	0.0026	0.000998403	0.0031	0.0008	0.0019	0	0.0006	0.0048	0.0034	0.0015	0.0032018	495	154602	rs143478210	0.0044	0.0044	0.0045	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0007	0.0019	0.0007	0	0.0008	0.0021	0.0053	0.0043	0.0018	0.0025	0.0025	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0022	0.0023	0	0.0005	0	0.0041	0.0028	0.0012	0.254	0.16903	T	0.276	0.21947	T	0.031	0.20130	B	0.013	0.16460	B	0.000000	0.84330	D	0.051719	0.999849	0.49770	D	0.6	0.15550	N	.	.	.	-0.52	0.16187	N	0.196	0.21580	-1.0711	0.09173	T	0.070	0.28445	T	9	0.0072960556	0.00166	T	0.005092	0.12908	T	0.041	0.10877	.	.	0.212008924253	0.20833	0.6562973301847608	0.65565	0.833681432274	0.67729	0.666677236557	0.62364	T	0.018635	0.14986	T	-0.424669	0.01598	T	-0.378639	0.35882	T	0.0591798481655424	0.07039	T	0.728927	0.34400	T	0.1776007	0.38735	0.25585455	0.51275	0.1776007	0.38734	0.25585455	0.51274	-6.186	0.47809	T	.	.	0.089	0.12371	B	.	.	3.431867	0.47700	22.5	0.99523084016120988	0.69346	0.90658	0.52018	D	AEFDGBCIJ	0.243239	0.36455	N	-0.326984694636836	0.28128	1.548838	-0.122076297032816	0.34501	1.985305	0.99999999966649	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.21	4.32	0.50899	3.535000	0.53331	5.966000	0.51911	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.752000	0.35857	0.0:0.8356:0.0:0.1644	9.255	0.36735	233	0.90919	Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1756.33	40	chr9	128066975	.	C	T	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=886;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.536;SOR=0.824	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr9	128160433	128160433	G	A	exonic	C9orf16	.	nonsynonymous SNV	C9orf16:NM_024112:exon1:c.G26A:p.G9E	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0225562069857	.	.	0.0002	0	0	0	0	0.0004	0	0	6.5e-06	1	154602	rs755834609	3.656e-05	3.078e-05	3.404e-05	3.933e-05	0.0001	2.719e-05	2.448e-05	3.228e-05	2.842e-05	0	0.0001	0	0	0	0	4.284e-05	0	0	1.316e-05	1.314e-05	2.573e-05	0	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	1.0	0.00964	T	0.834	0.03674	T	0.799	0.44910	P	0.459	0.46380	P	0.134635	0.18509	N	0.577422	0.991544	0.24018	N	.	.	.	.	.	.	0.27	0.04306	N	0.207	0.22998	-1.0434	0.16294	T	0.035	0.15074	T	8	0.10773039	0.20024	T	0.022556	0.45460	T	0.122	0.33800	0.407	0.44066	0.566372544126	0.56301	0.12770574317962666	0.12696	0.631749493559	0.57118	.	.	.	0.010149	0.09188	T	-0.273089	0.11416	T	-0.393382	0.34155	T	0.79783695936203	0.46207	D	0.564244	0.19889	T	0.038698483	0.05205	0.07195237	0.15466	0.038698483	0.05205	0.07195237	0.15465	-3.69	0.19171	T	.	.	0.180	0.39168	B	.	.	3.150037	0.42638	21.6	0.96885487849484164	0.31477	0.68912	0.33983	D	AEFDGBHCI	0.138496	0.25981	N	-0.222582767702485	0.32208	1.813981	-0.18274052905199	0.32171	1.827631	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.44	2.45	0.28953	3.605000	0.53839	3.943000	0.40617	-0.141000	0.12389	0.999000	0.42656	1.000000	0.68203	0.939000	0.47918	0.2002:0.1726:0.6271:0.0	5.227	0.14719	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	35	chr9	128160433	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=648;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.214;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	128190801	128190801	-	TGCTGGAGCTGCTGCTGCTGT	exonic	CIZ1	.	nonframeshift insertion	CIZ1:NM_001131015:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131016:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131017:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131018:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001257975:exon2:c.146_147insACAGCAGCAGCAGCTCCAGCA:p.Q49_L50insQQQQLQQ,CIZ1:NM_012127:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	5.758e-06	6.842e-06	5.684e-06	5.834e-06	1.265e-05	2.48e-06	1.79e-06	2e-06	1.32e-06	0	0	0	0	0	0	5.573e-06	1.733e-05	1.265e-05	1.315e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	316.29	35	chr9	128190801	.	C	CTGCTGGAGCTGCTGCTGCTGT	316.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=684;ExcessHet=0;FS=3.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0;SOR=1.349	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr9	128203516	128203516	C	A	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	13	1488	21	0	0	21	0.00700701	.	.	.	369776	Developmental_and_epileptic_encephalopathy,_31A|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0026	0.0279553	0.0335	0.0038	0.0587	0.1655	0.0035	0.0104	0.0149	0.0402	0.0127489	1971	154602	rs61757224	0.0076	0.0078	0.0071	0.0081	0.1047	0.0075	0.0074	0.1017	0.1005	0.0009	0.0131	0.0004	0.1047	0.0011	0.0031	0.0038	0.0076	0.0273	0.0070	0.0071	0.0060	0.0081	0.0988	0.0067	0.0065	0.0917	0.0889	0.0011	0.0286	0.0054	0	0.0988	0.0007	0.0034	0.0037	0.0062	0.0271	0.019	0.51853	D	0.029	0.55341	D	0.012	0.16265	B	0.01	0.14941	B	0.010094	0.30071	N	0.315063	1	0.81001	D	2.68	0.78455	M	-4.26	0.97078	D	-1.64	0.39314	N	0.093	0.31478	-0.3636	0.73156	T	0.112	0.40052	T	10	0.0020967126	0.00030	T	.	.	.	0.521	0.79643	.	.	.	.	0.7578958498316064	0.75737	1.75258816871	0.91011	0.847831964493	0.89287	D	0.53455	0.83952	D	-0.276053	0.11091	T	-0.0725907	0.65442	T	0.0290570126467959	0.01845	T	0.933807	0.75196	D	0.27371824	0.50438	0.24311496	0.49748	0.28401318	0.51430	0.2125759	0.45731	-4.274	0.30797	T	0.5101791939494381	0.58403	0.262	0.49654	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.092953	0.41652	21.4	0.97068911465426433	0.32230	0.75356	0.36892	D	ALL	0.152075	0.27668	N	-0.224900301049422	0.32113	1.807713	-0.217760301003046	0.30899	1.743806	0.999999999999853	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	4.78	1.87	0.24559	1.541000	0.35732	1.481000	0.26822	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7444:0.0:0.2556	8.767	0.33868	359	0.84979	Dynamin, GTPase domain;.;.;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005589	0.000000	0.002717	0.002941	0.000000	0.008621	0.003165	0.023077	0.02632	1170.33	36	chr9	128203516	.	C	A	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=724;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.602;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,952	18	0	1	0
chr9	128254046	128254046	C	T	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs545873603	0.0001	9.166e-05	0.0001	0.0001	0.0003	9.616e-05	9.006e-05	0.0001	9.707e-05	4.349e-05	0	0	0	0.0001	0.0003	0.0001	9.089e-05	0	7.879e-05	7.873e-05	8.994e-05	6.713e-05	0.0001	4.493e-05	3.51e-05	7.91e-05	5.995e-05	2.406e-05	0	0	0	0	9.413e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.757	0.75559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0581027	0.43202	T	-0.321237	0.42439	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.325463	0.17300	13.08	0.83973826120831574	0.15025	0.86984	0.46391	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.99989436901515	0.45129	0.139865	0.03177	0	0.09434	0.02614	0	0.292527	0.05481	0	0.082385	0.02281	0	0.400083	0.37636	5.22	2.36	0.28258	1.911000	0.39567	2.249000	0.31673	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.785:0.0:0.215	10.448	0.43691	327	0.86637	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	660.33	34	chr9	128254046	.	C	T	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-2.134;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	18	0	1	0
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	420	1061	38	3	0	44	0.0203139	.	.	.	370324	not_provided|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013198	0.010526	0.009511	0.005848	0.000000	0.017241	0.009317	0.038168	0.07895	2752.77	34	chr9	128332174	.	G	A	2752.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.328;DP=692;ExcessHet=0;FS=2.045;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.73;ReadPosRankSum=-0.718;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	17	1	1	0
chr9	128582545	128582545	C	T	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon13:c.C1639T:p.R547C,SPTAN1:NM_001195532:exon13:c.C1639T:p.R547C,SPTAN1:NM_001363759:exon13:c.C1639T:p.R547C,SPTAN1:NM_001363765:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375310:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375311:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375313:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375314:exon13:c.C1639T:p.R547C,SPTAN1:NM_003127:exon13:c.C1639T:p.R547C,SPTAN1:NM_001375312:exon14:c.C1675T:p.R559C,SPTAN1:NM_001375318:exon14:c.C1675T:p.R559C	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2893099	not_provided|Developmental_and_epileptic_encephalopathy	MedGen:C3661900|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.584	0.0750068859544	.	.	8.239e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs779260779	3.421e-06	4.104e-06	2.723e-06	4.126e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.033	0.44358	D	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	0.89	0.45636	T	-3.94	0.73378	D	0.854	0.87049	-0.4154	0.71538	T	0.321	0.68978	T	10	0.84776706	0.83947	D	0.075007	0.72183	D	0.584	0.83305	0.695	0.83219	0.68965411497	0.68699	0.681365942298319	0.68075	1.6492091948	0.89517	0.859658718109	0.91060	D	0.543793	0.84427	D	0.126288	0.66998	D	0.125155	0.78575	D	0.940614657457347	0.61311	D	0.981802	0.93846	D	0.3716715	0.58708	0.26568505	0.52404	0.3716715	0.58708	0.26568505	0.52403	-12.445	0.86951	D	0.2928700803856528	0.38961	0.797	0.81188	P	.;.;.;.;.	.;.;.;.;.	5.299296	0.88967	29.8	0.99941509488681202	0.99797	0.99489	0.96653	D	AEFBI	0.933608	0.92576	D	0.807184420702145	0.86554	8.922744	0.809860849736805	0.90471	10.42225	0.999999999995221	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.568000	0.81546	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.081	0.93165	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	281.33	34	chr9	128582545	.	C	T	281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.494;DP=804;ExcessHet=0;FS=141.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.895;SOR=7.378	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1399	18	0	1	0
chr9	128585940	128585940	A	G	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001195532:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001363759:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001363765:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375310:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375311:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375313:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375314:exon19:c.A2753G:p.Y918C,SPTAN1:NM_003127:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375312:exon20:c.A2789G:p.Y930C,SPTAN1:NM_001375318:exon20:c.A2789G:p.Y930C	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	202369	not_provided|Developmental_and_epileptic_encephalopathy,_5|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy	MedGen:C3661900|MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.420	0.102861262995	0.0005	0.000399361	9.075e-05	0.0010	0	0	0	1.5e-05	0	0	8.41e-05	13	154602	rs138275607	4.245e-05	4.241e-05	4.36e-05	4.129e-05	0.0016	3.379e-05	3.067e-05	0.0013	0.0011	0.0016	6.708e-05	0	0	0	0	2.698e-06	3.318e-05	0	0.0003	0.0003	0.0004	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.594	0.90584	P	0.439	0.79672	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.46	0.32238	T	-7.94	0.96294	D	0.833	0.82862	-0.7159	0.59663	T	0.201	0.55737	T	10	0.3477112	0.51699	T	0.102861	0.77656	D	0.420	0.72930	.	.	0.600624724822	0.59744	0.5353938996465609	0.53464	2.06320298335	0.94431	0.934234261513	0.99209	D	0.452235	0.79264	T	-0.138679	0.30101	T	-0.0574847	0.66508	T	0.685751080513	0.40051	D	0.985426	0.95244	D	0.8331909	0.86125	0.81634027	0.89305	0.8331909	0.86127	0.81634027	0.89305	-10.899	0.79101	D	0.6723100865527274	0.74746	0.374	0.70263	A	.;.;.;.;.	.;.;.;.;.	4.858884	0.79490	27.1	0.99810015243983174	0.89353	0.99348	0.94841	D	AEFDGBI	0.932119	0.92198	D	0.780901472289614	0.84896	8.417902	0.784442649487226	0.88691	9.678241	0.999999999999604	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	8.867000	0.91934	11.298000	0.92236	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.383	0.74395	0	0.99858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	831.33	33	chr9	128585940	.	A	G	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=724;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.553;SOR=0.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1282	18	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.05263	3113.83	33	chr9	128634837	.	C	T	3113.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.857;DP=893;ExcessHet=0.119;FS=0.905;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.52;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	17	0	2	0
chr9	128714590	128714590	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon12:c.G1510A:p.G504S,PKN3:NM_013355:exon12:c.G1510A:p.G504S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00717200934169	7.7e-05	.	8.292e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs147486451	1.626e-05	2.413e-05	8.718e-06	2.354e-05	2.015e-05	1.04e-05	8.38e-06	1.227e-05	1.003e-05	0	0	0	0	0	0	2.015e-05	3.957e-05	0	6.576e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.53	0.07025	T	0.532	0.10034	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.61	0.28391	T	0.11	0.05706	N	0.243	0.27435	-0.9873	0.33273	T	0.037	0.15856	T	9	0.05372131	0.05609	T	0.007172	0.19006	T	0.021	0.04004	.	.	0.193865811164	0.18958	0.2653753530927664	0.26450	0.336977223862	0.35698	0.23176792264	0.02101	T	0.110347	0.42496	T	-0.336551	0.05630	T	-0.657563	0.08432	T	0.0169832097093445	0.00448	T	0.640736	0.25328	T	0.01795853	0.00319	0.03346386	0.02245	0.01795853	0.00319	0.03346386	0.02245	-3.275	0.13417	T	.	.	0.083	0.09336	B	.	.	0.751744	0.11215	7.847	0.72897294782074573	0.10135	0.52116	0.29055	D	AEFDGBI	0.085758	0.17387	N	-0.825941004341009	0.12649	0.6179337	-0.772302293976513	0.15175	0.7967977	0.853933691830853	0.25096	0.706548	0.73137	0	0.694456	0.67091	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.91	0.612	0.16768	0.044000	0.13876	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.328000	0.25156	0.1772:0.3417:0.4811:0.0	5.368	0.15425	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1115.33	36	chr9	128714590	.	G	A	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.87;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.471;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr9	128715382	128715382	A	G	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon15:c.A1730G:p.Q577R,PKN3:NM_013355:exon15:c.A1730G:p.Q577R	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.0361082012297	.	.	8.284e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs749153614	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	8.994e-06	1.656e-05	1.159e-05	1.315e-05	1.313e-05	0	2.691e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.123	0.35582	T	0.994	0.66517	D	0.988	0.77976	D	.	.	.	.	1	0.81001	D	-0.015	0.05111	N	2.0	0.21473	T	-2.36	0.52128	N	0.557	0.58202	-0.8139	0.54312	T	0.046	0.19839	T	9	0.5757185	0.65568	D	0.036108	0.56779	D	0.382	0.69946	0.588	0.71623	0.162503812791	0.15892	0.4860375894707552	0.48523	0.977956703385	0.73625	0.466072708368	0.34142	T	0.32081	0.69196	T	-0.0738807	0.40705	T	-0.328415	0.41645	T	0.795515406149772	0.46052	D	0.845715	0.52486	T	0.49608994	0.66865	0.56297404	0.74710	0.49608994	0.66866	0.56297404	0.74711	-7.089	0.54681	T	.	.	0.112	0.22061	B	.	.	4.259162	0.64710	24.7	0.99869639454551884	0.94726	0.98775	0.86692	D	AEFGBI	0.898986	0.84287	D	0.438529073241514	0.63556	4.591526	0.54622196471287	0.71134	5.608901	0.999999991260841	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	8.866000	0.91909	11.115000	0.86412	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	14.045	0.64219	0	0.99858	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	80	chr9	128715382	.	A	G	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.281;DP=792;ExcessHet=0;FS=3.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.142;SOR=0.422	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1255	18	0	1	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H,ZDHHC12:NM_001318016:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318020:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318023:exon4:c.G347A:p.R116H,ZDHHC12:NM_032799:exon4:c.G350A:p.R117H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	680.33	37	chr9	128721783	.	C	T	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.302;DP=737;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr9	128724015	128724015	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318016:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318020:exon1:c.G79A:p.V27M,ZDHHC12:NM_001318023:exon1:c.G79A:p.V27M,ZDHHC12:NM_032799:exon1:c.G79A:p.V27M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0040	0.00419329	0.0013	0.0150	0.0001	0	0	0	0	0	0.0010349	160	154602	rs36044649	0.0004	0.0004	0.0004	0.0003	0.0140	0.0003	0.0003	0.0129	0.0125	0.0140	0.0003	0	0	0	0.0009	3.599e-06	0.0006	3.484e-05	0.0032	0.0032	0.0030	0.0033	0.0113	0.0029	0.0028	0.0104	0.0101	0.0113	0	0.0003	0	0	0	0	0	0.0033	0	0.017	0.78490	D	0.033	0.59159	D	0.718	0.42284	P	0.316	0.41603	B	0.215649	0.16259	N	0.612602	0.623947	0.32730	D	1.355	0.33814	L	1.4	0.52416	T	-0.84	0.26843	N	0.427	0.46649	-0.8109	0.54496	T	0.092	0.35201	T	10	0.00937596	0.00212	T	.	.	.	0.062	0.17934	.	.	0.476522311808	0.47281	0.40722202072138575	0.40638	0.719927638841	0.62156	0.785131931305	0.79704	T	0.014534	0.21296	T	-0.419369	0.01726	T	-0.363494	0.37648	T	0.0417573926245753	0.04010	T	0.940673	0.77758	D	0.28002295	0.51050	0.29964843	0.55999	0.28002295	0.51050	0.29964843	0.55998	-5.353	0.40464	T	.	.	0.521	0.69436	A	.;.;.;.	.;.;.;.	4.977518	0.82420	27.8	0.99853779921722097	0.93279	0.53319	0.29343	D	ALL	0.227146	0.35100	N	0.27719910872287	0.54994	3.66395	0.334100705911515	0.57554	3.921645	0.999999999168372	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	4.2	0.48814	2.504000	0.45076	4.705000	0.44428	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:0.8458:0.1542:0.0	13.849	0.62982	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2040.81	34	chr9	128724015	.	C	T	2040.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.01;SOR=1.263	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1338	18	1	0	0
chr9	128846736	128846736	C	T	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001287390:exon3:c.G220A:p.E74K,KYAT1:NM_001352994:exon3:c.G220A:p.E74K,KYAT1:NM_001352995:exon3:c.G217A:p.E73K,KYAT1:NM_001352996:exon3:c.G217A:p.E73K	.	436	1082	3	1	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0024659487284	.	0.000798722	0.0014	0	0	0	.	0.0056	0	0	0.0010737	166	154602	rs138304702	0.0071	0.0067	0.0074	0.0068	0.0084	0.0070	0.0069	0.0083	0.0082	0.0012	0.0058	0.0026	2.799e-05	0.0028	0.0018	0.0084	0.0057	0.0002	0.0048	0.0048	0.0053	0.0043	0.0079	0.0045	0.0044	0.0073	0.0071	0.0015	0	0.0056	0.0020	0	0.0026	0.0103	0.0079	0.0061	0.0002	0.158	0.23905	T	0.884	0.03187	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.88	0.74689	T	0.27	0.04306	N	0.156	0.16168	-1.0291	0.20746	T	0.072	0.29259	T	8	0.0043369234	0.00088	T	0.002466	0.04868	T	0.061	0.17616	.	.	0.124217242631	0.12060	0.3786594630569003	0.37780	.	.	.	.	.	.	.	.	-0.577985	0.00198	T	-0.596615	0.13096	T	0.000246112109628947	0.00002	T	0.469153	0.13854	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.	.	0.032946	0.04515	1.215	0.091971458652037291	0.00088	0.00104	0.00666	N	AEFBI	0.026974	0.02121	N	-1.49759438220123	0.01867	0.08190066	-1.63305161396982	0.01466	0.0663173	0.999759943784169	0.42595	0.553676	0.25195	0	0.588015	0.36545	0	0.566861	0.19136	0	0.567892	0.33627	0	.	.	0.959	-1.92	0.07203	-0.629000	0.05605	-1.083000	0.06383	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4542:0.0:0.5458	4.717	0.12278	867	0.32089	.	ENDOG|PKN3	Colon_Transverse|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1064.33	39	chr9	128846736	.	C	T	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.35;SOR=0.735	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1235	18	0	1	0
chr9	128908081	128908081	G	A	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.G917A:p.R306H,LRRC8A:NM_001127244:exon3:c.G917A:p.R306H,LRRC8A:NM_019594:exon3:c.G917A:p.R306H	.	0	1521	1	0	0	1	0.000328623	.	.	.	1354842	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0121950229113	.	.	4.947e-05	0	0.0003	0.0001	0	1.5e-05	0	6.058e-05	3.88e-05	6	154602	rs768085461	2.326e-05	2.326e-05	2.723e-05	1.925e-05	0.0002	1.674e-05	1.477e-05	4.358e-05	2.767e-05	0.0001	0.0001	0	5.038e-05	1.877e-05	0.0002	1.079e-05	3.311e-05	8.115e-05	2.631e-05	2.627e-05	1.286e-05	4.039e-05	0.0002	8.15e-06	5.14e-06	5.297e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.048	0.48594	D	0.984	0.60733	D	0.444	0.45865	B	0.000011	0.62929	D	0.124676	0.99929	0.46578	D	1.04	0.26193	L	0.92	0.44461	T	-0.67	0.19297	N	0.559	0.65245	-0.9740	0.36344	T	0.101	0.37443	T	10	0.31119278	0.48591	T	0.012195	0.30540	T	0.178	0.44724	.	.	0.36413608308	0.36018	0.754839272335234	0.75430	1.25738279901	0.81943	0.689229488373	0.65595	T	0.026085	0.19376	T	-0.205495	0.20017	T	-0.335985	0.40800	T	0.150144979357719	0.17115	T	0.868913	0.57225	D	0.124155395	0.29136	0.08631611	0.19989	0.124155395	0.29136	0.08631611	0.19988	-4.691	0.33295	T	.	.	0.092	0.13597	B	.;.;.	.;.;.	5.403615	0.90479	31	0.99763207520922847	0.85254	0.97961	0.78453	D	AEFDGBI	0.852956	0.76989	D	0.437302363417497	0.63488	4.58332	0.504634393668572	0.68303	5.201281	0.999999997072412	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	6.792000	0.74912	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.482	0.87569	900	0.24599	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3493.33	33	chr9	128908081	.	G	A	3493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.877;DP=1467;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.474;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	128945854	128945854	T	C	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.A1450G:p.I484V	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	229664	Cardiovascular_phenotype|DK1-congenital_disorder_of_glycosylation|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0007	0.00319489	0.0020	0.0002	0	0	0.0002	0.0007	0.0033	0.0111	0.001727	267	154602	rs147630977	0.0010	0.0010	0.0007	0.0012	0.0091	0.0009	0.0009	0.0086	0.0084	5.974e-05	0.0002	3.826e-05	2.519e-05	5.616e-05	0.0061	0.0004	0.0015	0.0091	0.0008	0.0008	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	7.217e-05	0	0.0005	0	0	9.413e-05	0	0.0007	0.0009	0.0104	0.161	0.23631	T	0.242	0.24264	T	0.017	0.17573	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	0.999902	0.50806	D	1.18	0.29980	L	0.29	0.58897	T	-0.36	0.13035	N	0.189	0.20660	-1.0069	0.27881	T	0.130	0.44048	T	10	0.008740902	0.00198	T	.	.	.	0.057	0.16321	.	.	0.634202473982	0.63120	0.4641050550355261	0.46329	0.307689579092	0.33064	0.695589542389	0.66507	T	0.197011	0.55356	T	-0.459298	0.00993	T	-0.424564	0.30554	T	0.00924988242751401	0.00117	T	0.779722	0.41422	T	0.04478138	0.07219	0.06884091	0.14427	0.06063995	0.12468	0.0722512	0.15564	-3.126	0.11597	T	0.2537091946592083	0.34318	0.118	0.24123	B	.	.	1.453646	0.18750	13.91	0.96607820403466116	0.30430	0.91131	0.52921	D	AEFDBI	0.310156	0.41625	N	-0.269190474146577	0.30345	1.691105	-0.120153768624484	0.34578	1.99061	0.999997413625794	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.46	3.13	0.35090	2.843000	0.47939	1.968000	0.29973	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.674000	0.33367	0.0:0.1531:0.0:0.8469	8.782	0.33955	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	3605.33	36	chr9	128945854	.	T	C	3605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.894;DP=971;ExcessHet=0;FS=4.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.737;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1329	18	0	1	0
chr9	128947302	128947302	-	T	exonic	DOLK	.	nonframeshift insertion	DOLK:NM_014908:exon1:c.1dupA:p.M1M	Congenital disorder of glycosylation, type Im, Autosomal recessive	3	1506	12	1	0	14	0.00462657	.	.	.	177679	not_specified|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	0.00259585	0.0081	0.0012	0.0020	0	0.0090	0.0130	0.0082	0.0009	0.0009221	24	26028	rs531969689	0.0074	0.0074	0.0075	0.0073	0.0088	0.0073	0.0072	0.0086	0.0086	0.0013	0.0024	0.0016	2.519e-05	0.0083	0.0015	0.0088	0.0056	0.0008	0.0055	0.0055	0.0055	0.0055	0.0092	0.0052	0.0050	0.0086	0.0083	0.0015	0	0.0027	0.0012	0	0.0089	0	0.0092	0.0033	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	951.29	36	chr9	128947302	.	A	AT	951.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=690;ExcessHet=0;FS=5.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=-0.195;SOR=1.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1329	18	0	1	0
chr9	128968669	128968669	A	G	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon9:c.A749G:p.N250S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.012079515607	.	.	6.599e-05	0	0	0	0	3e-05	0	0.0004	5.82e-05	9	154602	rs747280522	3.626e-05	3.694e-05	2.042e-05	5.225e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0002	5.974e-05	0	0.0002	5.038e-05	0	0.0002	9.892e-06	3.312e-05	0.0003	3.939e-05	3.937e-05	5.139e-05	2.685e-05	0.0004	1.714e-05	1.129e-05	7.293e-05	3.03e-05	2.406e-05	0	0	0	0	0	0	4.409e-05	0	0.0004	0.332	0.13045	T	0.0	0.92824	D	0.997	0.70673	D	0.981	0.75168	D	0.000000	0.84330	N	0.038682	0.999435	0.47043	D	0.975	0.24501	L	1.45	0.32482	T	-1.55	0.37566	N	0.421	0.46086	-1.0762	0.08104	T	0.109	0.39392	T	10	0.32108968	0.49476	T	0.01208	0.30328	T	0.183	0.45592	0.637	0.77361	0.330131851566	0.32626	0.44550888420386053	0.44468	0.653574000201	0.58489	0.552945196629	0.46273	T	0.03177	0.22192	T	-0.42675	0.01551	T	-0.540255	0.18272	T	0.153420656919479	0.17373	T	0.891611	0.62654	D	0.07035514	0.15490	0.07222405	0.15557	0.07035514	0.15490	0.07222405	0.15557	-2.231	0.04194	T	.	.	0.177	0.38658	B	.	.	3.698750	0.52737	23.3	0.99831027562019159	0.91284	0.98140	0.79942	D	AEFBI	0.743453	0.68675	D	0.414376618452198	0.62212	4.433518	0.431081218013505	0.63512	4.58627	0.999996240679843	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.34	0.51267	6.844000	0.75184	6.785000	0.56592	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.927:0.0:0.073:0.0	11.238	0.48183	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	34	chr9	128968669	.	A	G	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.818;DP=709;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.079;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr9	128968704	128968704	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon9:c.G784A:p.V262I	.	418	1102	2	0	0	2	0.000906618	.	.	.	3192558	NUP188-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.00373986707024	0.0003	0.00139776	0.0012	0.0002	8.66e-05	0	0.0017	0.0006	0.0011	0.0058	0.0010608	164	154602	rs140577118	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0051	0.0001	0.0002	0	0	0.0014	0	0.0005	0.0007	0.0056	0.0005	0.0005	0.0005	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	7.217e-05	0	0.0002	0.0003	0	0.0014	0	0.0004	0.0005	0.0054	0.08	0.33585	T	0.0	0.92824	D	0.003	0.11197	B	0.005	0.11217	B	0.000028	0.55875	N	0.157444	0.999862	0.50061	D	0.55	0.14455	N	1.47	0.31987	T	-0.03	0.07444	N	0.042	0.01498	-1.0895	0.05616	T	0.044	0.19029	T	10	0.0056452453	0.00125	T	0.00374	0.08682	T	0.054	0.15330	.	.	0.138757226776	0.13463	0.19197259960747595	0.19115	0.150091436375	0.16931	0.385551452637	0.23041	T	0.019483	0.15513	T	-0.570988	0.00218	T	-0.590072	0.13659	T	0.0183168423654702	0.00550	T	0.831217	0.49813	T	0.026391154	0.01691	0.052065093	0.08504	0.026391154	0.01691	0.052065093	0.08503	-3.425	0.15395	T	.	.	0.092	0.13409	B	.	.	2.096895	0.26679	17.20	0.95466583643371172	0.27008	0.96652	0.70223	D	AEFBI	0.422830	0.48867	N	-0.465721959748396	0.23209	1.244809	-0.280974509217165	0.28725	1.603835	0.999761780373794	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	2.71	0.31092	5.250000	0.65252	3.687000	0.39485	-0.203000	0.08628	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2162:0.0:0.7838:0.0	10.080	0.41558	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	912.33	34	chr9	128968704	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.092;DP=697;ExcessHet=0;FS=8.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.379;SOR=0.168	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D	.	425	1062	31	4	0	39	0.0180305	.	.	.	1687699	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.015152	0.006793	0.005848	0.000000	0.034483	0.021341	0.018939	0.02632	1195.33	38	chr9	128999742	.	G	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.162;DP=816;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.21;SOR=0.437	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	128999777	128999777	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3815A:p.R1272Q	.	.	.	.	.	.	.	.	.	.	.	2268596	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0138364907819	.	.	8.262e-06	0	0	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs758697460	5.199e-05	5.267e-05	5.853e-05	4.538e-05	8.944e-05	4.258e-05	3.888e-05	4.786e-05	4.365e-05	2.987e-05	8.944e-05	0	0	0	0	5.935e-05	8.279e-05	0	7.227e-05	7.223e-05	5.138e-05	9.413e-05	0.0005	3.971e-05	3.127e-05	0.0003	0.0002	2.412e-05	0	0.0005	0	0	0	0	2.939e-05	0	0	0.21	0.19639	T	0.348	0.17585	T	0.897	0.49385	P	0.273	0.40007	B	0.000029	0.55875	D	0.122738	0.999956	0.52396	D	1.995	0.54099	M	1.48	0.31731	T	-0.54	0.16598	N	0.693	0.69825	-1.0708	0.09238	T	0.077	0.30798	T	10	0.38614368	0.54554	T	0.013836	0.33543	T	0.093	0.26882	0.152	0.05544	0.223474106383	0.21959	0.26013053067810527	0.25927	0.413762206108	0.42070	0.478846937418	0.35898	T	0.018088	0.14645	T	-0.214226	0.18789	T	-0.319795	0.42597	T	0.199135150820523	0.20368	T	0.956904	0.83579	D	0.094502024	0.22219	0.09647973	0.22926	0.094502024	0.22218	0.09647973	0.22926	-3.289	0.13596	T	.	.	0.094	0.14431	B	.	.	3.843168	0.55623	23.6	0.99873163910268759	0.95076	0.94712	0.62071	D	AEFDGBCI	0.823374	0.74350	D	0.318378636753359	0.57091	3.875352	0.423698884313626	0.63046	4.530693	0.999999999339156	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.186000	0.77262	9.924000	0.82528	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.883	0.88762	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1394.33	38	chr9	128999777	.	G	A	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=804;ExcessHet=0;FS=5.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.078;SOR=1.197	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	129001659	129001659	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon35:c.G3974A:p.R1325H	.	418	1100	4	0	0	4	0.00181488	.	.	.	711780	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.309	.	0.0051	0.00179712	0.0045	0.0014	0.0013	0	0.0122	0.0057	0.0034	0.0034	0.0046442	718	154602	rs41316500	0.0061	0.0061	0.0062	0.0060	0.0069	0.0060	0.0060	0.0068	0.0067	0.0013	0.0016	0.0013	2.519e-05	0.0096	0.0019	0.0069	0.0044	0.0038	0.0046	0.0046	0.0046	0.0047	0.0065	0.0043	0.0042	0.0060	0.0058	0.0016	0.0055	0.0009	0.0017	0.0004	0.0135	0	0.0065	0.0028	0.0048	0.009	0.57480	D	0.023	0.57104	D	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.35	0.34648	T	-0.99	0.26200	N	0.88	0.87808	-0.7065	0.60125	T	0.177	0.52256	T	10	0.007984251	0.00181	T	.	.	.	0.309	0.63055	.	.	0.426936546926	0.42313	0.2771650111174938	0.27629	0.813143834965	0.66826	0.701034903526	0.67292	T	0.032328	0.22440	T	-0.129178	0.31630	T	0.0496304	0.73558	D	0.0421556559281792	0.04083	T	0.969903	0.89155	D	0.23650822	0.46502	0.16948289	0.38985	0.23650822	0.46502	0.16948289	0.38984	-4.865	0.35339	T	.	.	0.139	0.30397	B	.	.	5.370564	0.90040	31	0.99934050435279365	0.99535	0.96259	0.68271	D	AEFDGBCI	0.897738	0.84025	D	0.815932915016916	0.87093	9.100277	0.806446553405469	0.90237	10.31723	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	9.591000	0.97403	11.910000	0.99563	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.142	0.89573	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1185.33	33	chr9	129001659	.	G	A	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.784;SOR=0.727	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	129005527	129005527	T	G	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon40:c.T4734G:p.D1578E	.	425	1088	9	0	0	9	0.00411899	.	.	.	723355	NUP188-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0069	0.00239617	0.0077	0.0009	0.0019	0	0.0086	0.0124	0.0022	0.0007	0.0073285	1133	154602	rs61751465	0.0072	0.0072	0.0073	0.0071	0.0086	0.0071	0.0070	0.0084	0.0084	0.0011	0.0023	0.0016	2.519e-05	0.0085	0.0005	0.0086	0.0053	0.0006	0.0053	0.0053	0.0053	0.0053	0.0089	0.0050	0.0049	0.0084	0.0081	0.0012	0	0.0027	0.0012	0	0.0090	0	0.0089	0.0033	0.0002	0.216	0.19225	T	0.227	0.25362	T	0.849	0.46879	P	0.301	0.41090	B	0.000000	0.84330	D	0.048374	0.999906	0.50806	D	0.895	0.22405	L	1.28	0.35960	T	-1.42	0.34992	N	0.703	0.70702	-1.0847	0.06462	T	0.044	0.18948	T	10	0.010066628	0.00225	T	.	.	.	0.152	0.39956	0.565	0.68633	0.206203607746	0.20212	0.3784297622020523	0.37757	0.490538732655	0.47772	0.708342552185	0.68354	T	0.060154	0.31309	T	-0.463038	0.00941	T	-0.428503	0.30104	T	0.0413224758014232	0.03930	T	0.90081	0.65538	D	0.19082625	0.40684	0.13515812	0.32368	0.19082625	0.40684	0.13515812	0.32368	-2.885	0.08994	T	.	.	0.658	0.71253	P	.	.	1.331996	0.17371	13.12	0.98392281660459835	0.40978	0.87195	0.46661	D	AEFGBHCI	0.482426	0.52330	N	-0.486202491299006	0.22532	1.203798	-0.57401134933247	0.20172	1.085593	0.999999696149374	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.32	-4.52	0.03227	-0.354000	0.07731	-1.783000	0.04734	0.665000	0.62972	0.299000	0.25315	0.000000	0.08366	0.953000	0.50222	0.0:0.6094:0.0:0.3906	15.457	0.75050	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2513.33	39	chr9	129005527	.	T	G	2513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=981;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-2.078;SOR=0.707	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	18	0	1	0
chr9	129009272	129009272	G	A	exonic	SH3GLB2	.	nonsynonymous SNV	SH3GLB2:NM_001287046:exon10:c.C914T:p.A305V,SH3GLB2:NM_001369915:exon10:c.C866T:p.A289V,SH3GLB2:NM_020145:exon10:c.C914T:p.A305V,SH3GLB2:NM_001287045:exon12:c.C941T:p.A314V,SH3GLB2:NM_001369913:exon12:c.C974T:p.A325V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00499593591493	0.0013	0.00219649	0.0026	0.0019	0.0015	0.0004	0	0.0027	0.0039	0.0042	0.0011125	172	154602	rs17455482	0.0021	0.0020	0.0020	0.0021	0.0031	0.0020	0.0020	0.0028	0.0027	0.0004	0.0005	0.0003	2.628e-05	0.0003	0.0007	0.0023	0.0016	0.0031	0.0013	0.0013	0.0013	0.0012	0.0029	0.0011	0.0011	0.0019	0.0018	0.0006	0.0044	0.0003	0.0003	0	0.0002	0	0.0021	0	0.0029	0.289	0.19710	T	0.37	0.19599	T	0.003	0.11197	B	0.001	0.06944	B	0.000169	0.48594	N	0.139615	0.849264	0.39583	D	1.445	0.36358	L	2.09	0.20523	T	-1.33	0.33197	N	0.085	0.06854	-1.0465	0.15389	T	0.027	0.11397	T	10	0.005794823	0.00129	T	0.004996	0.12598	T	0.060	0.17295	.	.	0.241664281697	0.23763	0.38804227476226855	0.38719	0.270440210467	0.29564	0.576643049717	0.49613	T	0.024515	0.18510	T	-0.532829	0.00370	T	-0.541827	0.18118	T	0.0159402068023885	0.00378	T	0.79822	0.44873	T	0.052296225	0.09732	0.070777275	0.15078	0.052296225	0.09731	0.070777275	0.15077	-4.009	0.23938	T	.	.	0.084	0.11076	B	.;.;.;.;.	.;.;.;.;.	2.094810	0.26650	17.19	0.99166748491820955	0.54269	0.84096	0.43181	D	AEFDGBHCI	0.257064	0.37587	N	-0.628340432551424	0.18096	0.936791	-0.525655664053068	0.21458	1.160878	0.999999994472484	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	4.87	3.97	0.45241	1.046000	0.29964	6.619000	0.56113	0.676000	0.76740	0.324000	0.25538	1.000000	0.68203	0.134000	0.19723	0.0793:0.0:0.9207:0.0	12.805	0.56989	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005123	0.000000	0.005450	0.002994	0.000000	0.000000	0.006329	0.011538	0.02632	724.33	40	chr9	129009272	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=733;ExcessHet=0;FS=3.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.847;SOR=0.497	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	18	0	1	0
chr9	129040499	129040499	G	T	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_032809:exon2:c.G97T:p.V33L	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003493	54	154602	rs193049423	0.0029	0.0028	0.0030	0.0027	0.0039	0.0028	0.0028	0.0032	0.0032	0.0005	0.0015	0.0024	0	0.0008	0.0039	0.0033	0.0031	0.0009	0.0018	0.0018	0.0019	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0018	0.0020	0	0.0015	0	0.0030	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	34	chr9	129040499	.	G	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=786;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.03;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr9	129059238	129059238	A	G	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_001329990:exon7:c.A760G:p.T254A,MIGA2:NM_032809:exon7:c.A952G:p.T318A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0113105803181	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs552558002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.06	0.45744	T	0.033	0.20350	B	0.078	0.28627	B	0.013822	0.28718	N	0.369390	0.816212	0.28940	N	.	.	.	1.9	0.23486	T	-0.91	0.24460	N	0.188	0.20528	-1.0645	0.10666	T	0.052	0.21960	T	10	0.1416643	0.26915	T	0.011311	0.28804	T	0.035	0.08770	0.352	0.35084	0.339074221408	0.33521	0.20394227259470774	0.20311	0.320424184803	0.34251	0.410946667194	0.26588	T	0.010234	0.09261	T	-0.1701	0.25219	T	-0.482114	0.24221	T	0.306089580059052	0.25254	T	0.80202	0.44827	T	0.054230247	0.10375	0.06997454	0.14811	0.054230247	0.10375	0.06997454	0.14810	-3.382	0.14815	T	.	.	0.072	0.04080	B	.	.	2.250209	0.28740	17.90	0.97420533578496404	0.33870	0.91357	0.53370	D	AEFDGBI	0.227910	0.35165	N	-0.208416147044962	0.32787	1.853057	-0.149872086519465	0.33414	1.911059	0.999998189264326	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.13	3.95	0.44952	2.498000	0.45023	3.290000	0.37298	0.691000	0.84096	0.983000	0.35670	0.984000	0.30665	0.306000	0.24642	0.6985:0.1441:0.0:0.1574	6.907	0.23493	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2475.81	34	chr9	129059238	.	A	G	2475.81	.	AC=2;AF=0.053;AN=38;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.19;SOR=1.151	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	1	0	0
chr9	129068288	129068288	G	A	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_001329990:exon13:c.G1360A:p.A454T,MIGA2:NM_032809:exon13:c.G1552A:p.A518T	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00758786	0.0028	0	0	0.0347	0.0002	0.0001	0.0068	0.0014	0.0025873	400	154602	rs28365557	0.0011	0.0011	0.0011	0.0011	0.0332	0.0011	0.0011	0.0317	0.0311	8.967e-05	6.723e-05	0	0.0332	7.78e-05	0.0002	5.848e-05	0.0021	0.0013	0.0015	0.0015	0.0014	0.0016	0.0388	0.0013	0.0013	0.0344	0.0327	2.406e-05	0	0.0003	0	0.0388	9.423e-05	0	0.0001	0.0014	0.0021	0.57	0.06184	T	0.744	0.04912	T	0.814	0.45487	P	0.49	0.47330	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.68	0.27184	T	-1.89	0.44094	N	0.936	0.94196	-1.0828	0.06814	T	0.032	0.13811	T	10	0.012262702	0.00264	T	.	.	.	0.181	0.45247	.	.	0.621672535409	0.61860	0.7592294643511021	0.75870	1.02579315666	0.75269	0.734980940819	0.72235	T	0.03514	0.23601	T	-0.349154	0.04781	T	-0.245744	0.50236	T	0.0549012612516482	0.06341	T	0.922308	0.71764	D	0.14165704	0.32632	0.19197607	0.42686	0.14165704	0.32632	0.19197607	0.42685	-6.08	0.46944	T	.	.	0.523	0.65621	A	.	.	4.078651	0.60652	24.2	0.99801938438742011	0.88639	0.98472	0.83137	D	AEFDGBI	0.780427	0.71232	D	0.553289957916972	0.70282	5.478834	0.548377177581546	0.71285	5.631488	0.999999999500306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.328000	0.96407	11.736000	0.95093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:1.0:0.0	17.967	0.89023	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1591.33	34	chr9	129068288	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.439;DP=766;ExcessHet=0;FS=4.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.948;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	18	0	1	0
chr9	129102417	129102417	C	T	exonic	CRAT	.	nonsynonymous SNV	CRAT:NM_000755:exon5:c.G613A:p.V205M,CRAT:NM_001346547:exon5:c.G613A:p.V205M,CRAT:NM_001346549:exon5:c.G493A:p.V165M,CRAT:NM_001257363:exon6:c.G550A:p.V184M,CRAT:NM_001346546:exon6:c.G616A:p.V206M,CRAT:NM_001346548:exon6:c.G550A:p.V184M,CRAT:NM_004003:exon6:c.G550A:p.V184M	.	.	.	.	.	.	.	.	.	.	.	1419165	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.483	0.116343415268	0.0004	0.000399361	7.419e-05	0.0004	0	0.0002	0	3.001e-05	0	6.056e-05	7.76e-05	12	154602	rs199855222	2.257e-05	2.257e-05	3.131e-05	1.375e-05	0.0005	1.61e-05	1.416e-05	0.0003	0.0002	0.0005	2.236e-05	0	7.557e-05	0	0	7.194e-06	3.312e-05	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.234e-05	0.0004	0.0003	0.0005	0	6.534e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.038	0.51421	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.29	0.98219	H	-0.08	0.63911	T	-2.69	0.57435	D	0.707	0.71055	0.237	0.86534	D	0.518	0.81985	D	10	0.6180143	0.67816	D	0.116343	0.79580	D	0.483	0.77271	.	.	0.642270024921	0.63931	0.8558972513373259	0.85552	0.93781020124	0.72099	0.633464157581	0.57637	T	0.915296	0.98438	D	0.0683104	0.60643	T	0.190348	0.82590	D	0.531422838803316	0.33786	D	0.978202	0.92336	D	0.94823205	0.96086	0.85623115	0.91923	0.94823205	0.96087	0.85623115	0.91923	-9.894	0.73274	D	0.7561618371141728	0.83812	0.747	0.74939	P	.	.	4.667024	0.74550	26.2	0.99874439295066797	0.95160	0.95288	0.64140	D	AEFDGBHCI	0.726823	0.67536	D	0.793581676175585	0.85702	8.655678	0.716933738423645	0.83665	8.08163	1.0	0.98316	0.706548	0.73137	0	0.53679	0.11191	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.085000	0.57380	5.910000	0.51009	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.558	0.87794	822	0.40702	Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	34	chr9	129102417	.	C	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=752;ExcessHet=0;FS=6.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.208;SOR=0.314	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.02632	2268.33	40	chr9	129619764	.	T	C	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=894;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.692;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	129752993	129752993	A	T	exonic	PTGES	.	nonsynonymous SNV	PTGES:NM_004878:exon1:c.T20A:p.V7E	.	405	1116	0	1	0	2	0.000895255	.	.	.	723359	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0078	0.0061901	0.0021	0.0229	0.0006	0	0	0.0001	0	0	0.0019211	297	154602	rs45499692	0.0006	0.0006	0.0007	0.0006	0.0222	0.0006	0.0006	0.0208	0.0203	0.0222	0.0010	0	0	0	0.0010	7.465e-05	0.0011	0	0.0065	0.0065	0.0068	0.0062	0.0226	0.0062	0.0060	0.0214	0.0210	0.0226	0	0.0022	0	0	0	0	0.0001	0.0043	0	0.047	0.40319	D	0.284	0.21411	T	0.002	0.09854	B	0.0	0.01387	B	0.141132	0.18287	N	0.580298	1	0.08975	N	0.805	0.20218	L	.	.	.	-1.39	0.34397	N	0.071	0.04426	-1.0766	0.08023	T	0.014	0.05657	T	9	0.0030754805	0.00051	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	0.4489682369162159	0.44814	0.818351593899	0.67040	0.394020199776	0.24235	T	0.139113	0.47297	T	-0.683253	0.00046	T	-0.735298	0.04091	T	0.00488398089764689	0.00052	T	0.193481	0.02080	T	0.2555029	0.48585	0.20870434	0.45183	0.2555029	0.48585	0.20870434	0.45182	-3.875	0.21928	T	.	.	0.091	0.13315	B	.	.	1.770106	0.22508	15.65	0.85003313268084046	0.15626	0.01364	0.04664	N	ALL	0.056158	0.10360	N	-1.28416563970042	0.03866	0.1734521	-1.34823293744545	0.03827	0.1792977	0.99999999999961	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	3.66	-3.71	0.04137	-0.008000	0.12724	0.811000	0.21752	-0.164000	0.11507	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.3744:0.0:0.1888:0.4368	3.635	0.07686	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002018	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2272.81	37	chr9	129752993	.	A	T	2272.81	.	AC=2;AF=0.053;AN=38;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.42;SOR=1.644	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	18	1	0	0
chr9	130296737	130296737	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon7:c.G955A:p.G319S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	.	6.091e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs781843763	5.331e-05	2.704e-05	5.767e-05	4.995e-05	0.0004	3.344e-05	2.751e-05	7.123e-05	4.671e-05	0	0.0002	0	0	0	0.0004	5.03e-05	0	5.022e-05	5.259e-05	5.254e-05	5.14e-05	5.382e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	0	0	6.55e-05	0	0	0	0	0.0001	0	0	.	.	.	0.22	0.25907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.34120	-0.6403	0.63133	T	0.213	0.57414	T	5	0.1264599	0.24040	T	.	.	.	.	.	.	.	0.128392430309	0.12331	0.42678955901098964	0.42595	.	.	.	.	.	0.016384	0.13553	T	-0.311546	0.07613	T	-0.400577	0.33317	T	0.396111367810547	0.28795	T	0.720928	0.33404	T	0.029666709	0.02500	0.14760076	0.34923	0.029666709	0.02500	0.14760076	0.34922	-7.96	0.60797	D	.	.	0.129	0.27523	B	.	.	3.346080	0.46131	22.2	0.99791160863970807	0.87661	0.92971	0.57000	D	AEFDGBI	0.624039	0.60776	D	0.0302894449740704	0.43236	2.620545	0.0438029013671952	0.41773	2.515292	0.999997797218863	0.74766	0.516213	0.21343	1	0.59043	0.45803	0	0.651303	0.49530	0	0.542086	0.14980	0	.	.	4.53	2.65	0.30588	3.371000	0.52107	6.667000	0.56266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1851:0.0:0.8149:0.0	9.328	0.37163	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	35	chr9	130296737	.	G	A	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=815;ExcessHet=0;FS=0.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.7;SOR=0.606	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3119.83	37	chr9	130354885	.	G	A	3119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.213;DP=838;ExcessHet=0.119;FS=0.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.853;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	17	0	2	0
chr9	130376613	130376613	C	G	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon52:c.C8016G:p.S2672R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.12427908	0.23603	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.3898281713666427	0.38897	.	.	.	.	.	0.011548	0.10288	T	0.0617583	0.59834	T	-0.149065	0.59327	T	.	.	.	0.534647	0.17878	T	0.53428125	0.69074	0.6376971	0.78842	0.53428125	0.69075	0.6376971	0.78843	-14.655	0.94991	D	.	.	0.737	0.74485	P	.	.	3.544209	0.49785	22.8	0.70580104569451951	0.09342	0.67314	0.33388	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.155707777741496	0.17513	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.062806	0.01542	0	0.803716	0.47616	5.33	5.33	0.75683	0.800000	0.26703	2.197000	0.31255	0.599000	0.40250	0.300000	0.25324	0.995000	0.32472	0.998000	0.85391	0.0:1.0:0.0:0.0	17.625	0.87993	446	0.79659	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	46	chr9	130376613	.	C	G	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.958;DP=1184;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.07;SOR=0.784	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr9	130410587	130410587	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon85:c.G12896A:p.R4299Q	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs775077922	6.651e-05	6.43e-05	5.645e-05	7.685e-05	0.0009	5.535e-05	5.134e-05	0.0003	0.0002	6.33e-05	2.801e-05	0	0	0	0.0009	4.727e-05	0.0001	0.0004	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	0.977	0.02440	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04547	-0.9246	0.44915	T	0.212	0.57281	T	8	0.026502669	0.00815	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11343897901770826	0.11271	.	.	.	.	.	0.001258	0.00742	T	-0.527488	0.00397	T	-0.692347	0.06254	T	0.0209464031812465	0.00795	T	0.193581	0.02086	T	0.06620595	0.14223	0.16463055	0.38127	0.06620595	0.14223	0.16463055	0.38126	-3.496	0.16375	T	.	.	0.051	0.00179	B	.	.	0.266916	0.06449	2.922	0.96613108531452263	0.30452	0.00558	0.02546	N	AEFDGBI	0.037980	0.05306	N	-1.38477358456089	0.02780	0.123252	-1.36167188370077	0.03670	0.1716817	0.999695485391934	0.41870	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	-4.2	0.03562	-0.672000	0.05345	-2.846000	0.03302	-0.527000	0.04968	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.2764:0.0:0.7236:0.0	15.942	0.79551	371	0.84287	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	33	chr9	130410587	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=756;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.009;SOR=0.835	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1465	18	0	1	0
chr9	130418837	130418837	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon86:c.C13027T:p.R4343W	.	422	1082	17	1	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	.	.	0.00599042	0.0164	0.0024	0.0081	0	0.0124	0.0097	0.0082	0.0286	0.0021992	340	154602	rs368328308	0.0063	0.0061	0.0060	0.0067	0.0151	0.0062	0.0062	0.0144	0.0141	0.0007	0.0025	0.0042	0.0001	0.0053	0.0064	0.0063	0.0059	0.0151	0.0046	0.0046	0.0047	0.0046	0.0147	0.0044	0.0042	0.0119	0.0109	0.0011	0.0022	0.0014	0.0049	0	0.0048	0.0034	0.0072	0.0038	0.0147	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	0.080	0.83798	D	0.455	0.78749	T	8	0.009239852	0.00209	T	.	.	.	.	.	.	.	0.362758974969	0.35886	0.39281932267828	0.39196	.	.	.	.	.	0.144993	0.48189	T	-0.418746	0.01742	T	-0.361302	0.37900	T	0.01104468256202	0.00160	T	0.793221	0.43505	T	0.18856132	0.40360	0.18025486	0.40814	0.18856132	0.40360	0.18025486	0.40813	-6.74	0.52111	T	.	.	0.096	0.15430	B	.	.	3.196607	0.43450	21.7	0.99615193538493296	0.75052	0.30160	0.24010	N	AEFBI	0.249967	0.37010	N	-0.0207038998715754	0.40920	2.438431	-0.210022839848736	0.31174	1.761862	0.624009868167931	0.21910	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.42	3.54	0.39650	1.838000	0.38851	0.754000	0.21260	0.599000	0.40250	0.155000	0.23727	0.000000	0.08366	0.696000	0.34018	0.3334:0.6666:0.0:0.0	11.160	0.47735	366	0.84579	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2503.33	40	chr9	130418837	.	C	T	2503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.364;DP=825;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-1.826;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr9	130418993	130418993	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon86:c.C13183T:p.H4395Y	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.000399361	0.0023	0	0.0049	0	0	0.0028	0	0.0032	0.0002523	39	154602	rs568441799	0.0005	0.0005	0.0004	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0002	0.0009	0.0069	0	0	0.0042	0.0003	0.0009	0.0012	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0003	7.212e-05	0	0.0007	0.0072	0	0	0.0068	0.0004	0.0005	0.0004	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.24634	-0.3894	0.72361	T	0.273	0.64463	T	8	0.009629965	0.00217	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.1086028946769526	0.10789	.	.	.	.	.	0.011172	0.10005	T	-0.440435	0.01286	T	-0.445964	0.28143	T	0.0380966331831801	0.03349	T	0.585041	0.21304	T	0.053241033	0.10045	0.15490748	0.36335	0.053241033	0.10044	0.15490748	0.36334	-5.75	0.44136	T	.	.	0.119	0.24464	B	.	.	2.054924	0.26127	17.01	0.99061402871715132	0.51505	0.84851	0.43943	D	AEFGBI	0.235267	0.35790	N	-0.00857869006232942	0.41465	2.480766	-0.0322191209411389	0.38269	2.252225	0.977877124576479	0.29864	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.31	4.41	0.52588	0.555000	0.23129	4.726000	0.44529	-0.182000	0.10109	0.074000	0.22182	1.000000	0.68203	0.589000	0.31115	0.0:0.9061:0.0:0.0939	9.953	0.40819	366	0.84579	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1394.33	40	chr9	130418993	.	C	T	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.202;DP=749;ExcessHet=0;FS=11.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.193;SOR=1.362	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr9	130433379	130433379	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon98:c.G14926A:p.G4976S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00878594	0.0029	0.0443	0	0	.	0	0	0	0.0005757	89	154602	rs113041177	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0007	0.0278	0.0271	0.0295	0.0021	0	0	0	0.0017	6.26e-05	0.0024	9.619e-05	0.0078	0.0078	0.0082	0.0073	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0.0034	8.821e-05	0.0061	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.00717	-0.8278	0.53442	T	0.186	0.53511	T	6	0.002153635	0.00031	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.22134895655357056	0.22049	.	.	.	.	.	2.6E-4	0.00060	T	-0.662762	0.00060	T	-0.704516	0.05582	T	0.00404215957425928	0.00043	T	0.563244	0.19836	T	0.059518743	0.12107	0.09689803	0.23042	0.059518743	0.12107	0.09689803	0.23041	-2.57	0.06278	T	.	.	0.061	0.01109	B	.	.	0.191477	0.05775	2.218	0.92567638573492106	0.22021	0.10069	0.15675	N	ALL	0.052312	0.09325	N	-1.08785136262138	0.06866	0.3173051	-1.12619359170849	0.07202	0.3494766	0.999999992660392	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.54	-2.81	0.05459	0.061000	0.14242	-0.214000	0.10826	-0.352000	0.05559	0.209000	0.24412	0.004000	0.18990	0.022000	0.11911	0.4869:0.1496:0.3635:0.0	5.468	0.15947	358	0.85037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1429.81	34	chr9	130433379	.	G	A	1429.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.04;SOR=2.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	1	0	0
chr9	130884581	130884581	G	A	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.G2291A:p.R764Q,ABL1:NM_007313:exon11:c.G2348A:p.R783Q	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	.	.	.	.	.	.	.	.	.	3511997	ABL1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0176028688106	.	0.000199681	4.221e-05	0.0001	0	0.0005	0	0	0	0	3.88e-05	6	154602	rs575721187	1.369e-05	1.368e-05	1.362e-05	1.376e-05	0.0001	8.94e-06	7.27e-06	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	1.259e-05	1.656e-05	0	3.283e-05	3.281e-05	5.138e-05	1.343e-05	0.0002	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.216e-05	0	6.534e-05	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.481	0.12107	T	1.0	0.90584	D	0.862	0.61339	P	0.000009	0.62929	D	0.112748	1	0.81001	D	1.1	0.28011	L	2.45	0.15028	T	-0.68	0.19509	N	0.635	0.64818	-1.1590	0.00781	T	0.067	0.27502	T	10	0.20699549	0.36980	T	0.017603	0.39363	T	0.165	0.42395	0.259	0.20159	0.498981075579	0.49534	0.24994514308421542	0.24908	0.85617775767	0.68766	0.702243208885	0.67468	T	0.236231	0.60366	T	-0.309352	0.07805	T	-0.339408	0.40411	T	0.321046643473224	0.25865	T	0.955004	0.82846	D	0.18938653	0.40478	0.19329508	0.42891	0.18938653	0.40478	0.19329508	0.42890	-2.995	0.10127	T	0.2674277632709777	0.36030	0.168	0.36986	B	.;.	.;.	5.084168	0.84864	28.4	0.99944642821442531	0.99886	0.97689	0.76430	D	AEFDGBCI	0.804388	0.72926	D	0.590290862652133	0.72568	5.826278	0.648112262008219	0.78471	6.882826	0.999999999984507	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.587000	0.73960	9.972000	0.82868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.793	0.91949	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2529.33	33	chr9	130884581	.	G	A	2529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=771;ExcessHet=0;FS=6.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.755;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	18	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G,FIBCD1:NM_001145106:exon6:c.C907G:p.R303G	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	113	chr9	130911831	.	G	C	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.231;DP=848;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.969;SOR=0.628	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr9	131036221	131036221	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon4:c.G865A:p.A289T	Cortical malformations, occipital, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1379605	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0357390247978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.132	0.34477	T	0.061	0.23190	B	0.044	0.24394	B	0.089622	0.20417	N	0.503266	0.991454	0.41392	D	-0.32	0.03561	N	-0.01	0.62762	T	-0.73	0.20576	N	0.162	0.17002	-0.9672	0.37774	T	0.133	0.44622	T	10	0.30015403	0.47563	T	0.035739	0.56540	D	0.097	0.27909	0.56	0.67958	0.53104733087	0.52752	0.4255973454733632	0.42476	0.296881417285	0.32077	0.326206892729	0.14360	T	0.026624	0.19664	T	-0.156761	0.27259	T	-0.462953	0.26277	T	0.833441436290741	0.48800	D	0.833717	0.50261	T	0.12129538	0.28525	0.11321184	0.27320	0.12129538	0.28525	0.11321184	0.27319	-4.157	0.26126	T	.	.	0.075	0.05579	B	.	.	2.950106	0.39253	20.9	0.99684218006285552	0.79440	0.94162	0.60300	D	AEFDBCI	0.656977	0.62877	D	-0.293350440703879	0.29405	1.630303	-0.118681010515612	0.34636	1.994673	0.999999999925785	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	3.942000	0.56324	5.641000	0.49149	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:0.0:1.0:0.0	17.393	0.87328	429	0.80881	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	151	chr9	131036221	.	G	A	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.869;DP=1499;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.531;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:106:99:.:.:0,120,1800:.	18	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q	Cortical malformations, occipital, Autosomal recessive	7	1498	15	2	0	19	0.00630182	.	.	.	192120	not_specified|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.000000	0.004076	0.002959	0.000000	0.000000	0.003049	0.007576	0.02632	545.33	36	chr9	131072668	.	G	C	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=843;ExcessHet=0;FS=8.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-2.237;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1180:.	18	0	1	0
chr9	131072789	131072789	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.C3371T:p.S1124F	Cortical malformations, occipital, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	134907	LAMC3-related_disorder|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0095	0.00319489	0.0085	0.0022	0.0054	0	0.0114	0.0127	0.0081	0.0007	0.0073738	1140	154602	rs113259170	0.0094	0.0094	0.0094	0.0094	0.0106	0.0093	0.0092	0.0105	0.0104	0.0013	0.0057	0.0197	0	0.0068	0.0076	0.0106	0.0109	0.0008	0.0072	0.0072	0.0077	0.0067	0.0117	0.0069	0.0067	0.0111	0.0108	0.0016	0	0.0044	0.0202	0	0.0062	0.0068	0.0117	0.0114	0.0010	0.027	0.46513	D	0.056	0.46632	T	0.982	0.60036	D	0.839	0.60107	P	0.020825	0.26957	N	0.420127	0.722312	0.29910	N	2.25	0.63811	M	1.58	0.29085	T	-2.75	0.58407	D	0.601	0.61933	-0.8363	0.52891	T	0.119	0.41626	T	10	0.006035298	0.00136	T	.	.	.	0.085	0.24743	.	.	0.653879434346	0.65099	0.3203706677737109	0.31950	0.482670863814	0.47229	0.379210293293	0.22145	T	0.191222	0.54600	T	-0.516265	0.00462	T	-0.504961	0.21835	T	0.0296032382735943	0.01929	T	0.739426	0.35812	T	0.1953124	0.41315	0.21479674	0.46044	0.1953124	0.41315	0.21479674	0.46043	-6.779	0.52403	T	.	.	0.163	0.36012	B	.	.	4.388584	0.67704	25.1	0.99859115873559101	0.93729	0.77499	0.38111	D	AEFDGBCI	0.360704	0.45058	N	0.539469572555752	0.69442	5.357637	0.501496547831221	0.68092	5.172491	0.999999999547305	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.97	0.65419	2.975000	0.48972	7.603000	0.61629	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.276000	0.23917	0.0:1.0:0.0:0.0	15.361	0.74187	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.005102	0.009511	0.002924	0.000000	0.008621	0.009146	0.011364	0.05263	2163.83	36	chr9	131072789	.	C	T	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=829;ExcessHet=0.119;FS=2.118;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.843;SOR=0.935	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1180	17	0	2	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K	Cortical malformations, occipital, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	192121	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	423.33	36	chr9	131072797	.	G	A	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.622;DP=760;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-0.265;SOR=0.279	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1180	18	0	1	0
chr9	131087540	131087540	A	G	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon26:c.A4295G:p.Q1432R	Cortical malformations, occipital, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	2791127	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0228329054179	.	.	9.917e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs751401254	4.79e-05	4.788e-05	2.587e-05	7.015e-05	0.0007	3.861e-05	3.541e-05	0.0006	0.0005	0	0	0	0	0	0.0002	2.698e-06	3.312e-05	0.0007	1.97e-05	1.97e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.973e-05	0	0	0	0	0	0	0	0	0	0.0006	0.245	0.17410	T	0.463	0.12491	T	0.003	0.11197	B	0.005	0.11217	B	0.057554	0.22472	N	0.458283	0.966865	0.25874	N	1.95	0.52479	M	1.7	0.26885	T	-0.95	0.25332	N	0.096	0.07673	-0.9616	0.38877	T	0.144	0.46714	T	10	0.046963573	0.03953	T	0.022833	0.45752	T	0.132	0.35948	0.353	0.35246	0.481543764896	0.47786	0.2402164167641633	0.23935	0.159575760648	0.18006	0.334165811539	0.15562	T	0.034549	0.23366	T	-0.34024	0.05371	T	-0.362345	0.37780	T	0.17233818769455	0.18738	T	0.561144	0.19645	T	0.07178421	0.15919	0.107718244	0.25935	0.07178421	0.15919	0.107718244	0.25934	-3.774	0.20417	T	.	.	0.069	0.03093	B	.	.	1.439655	0.18589	13.82	0.98861633149558659	0.47476	0.65178	0.32651	D	AEFDBCI	0.422314	0.48837	N	0.0926493916177118	0.46121	2.857394	0.0931287792196824	0.44203	2.706564	0.999999849700661	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	3.646000	0.54137	5.319000	0.48286	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.325	0.42972	366	0.84579	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	972.33	34	chr9	131087540	.	A	G	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.071;DP=1158;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.055;SOR=0.804	GT:AD:DP:GQ:PL	0/1:61,41:102:99:986,0,1814	18	0	1	0
chr9	131091782	131091782	C	T	exonic	LAMC3	.	stopgain	LAMC3:NM_006059:exon28:c.C4723T:p.Q1575X	Cortical malformations, occipital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105865	0.19639	N	0.389827	0.999994	0.18878	N	.	.	.	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480892	0.93730	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.773493	0.98003	38	0.98084310543539444	0.38133	0.51431	0.28894	D	AEFDBCI	0.261822	0.37970	N	0.472444503640586	0.65487	4.828714	0.233389192497468	0.51710	3.351174	0.999985372831233	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.86	2.94	0.33188	1.005000	0.29436	2.839000	0.35068	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3675:0.6325:0.0:0.0	9.999	0.41092	364	0.84707	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	34	chr9	131091782	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=756;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.814;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.02632	2006.33	33	chr9	131151751	.	A	G	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=803;ExcessHet=0;FS=3.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.077;SOR=0.657	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr9	131465057	131465057	A	G	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384821:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384822:exon12:c.A1699G:p.N567D,PRRC2B:NM_001384823:exon12:c.A1699G:p.N567D,PRRC2B:NM_013318:exon12:c.A1699G:p.N567D	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.03083221136	0.0011	0.000399361	0.0012	0.0001	0.0021	0	0	0.0016	0.0070	0.0006	0.0010996	170	154602	rs201633009	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0026	0.0022	8.963e-05	0.0019	0.0160	0	7.499e-05	0.0038	0.0006	0.0018	0.0005	0.0011	0.0011	0.0009	0.0013	0.0048	0.0010	0.0009	0.0039	0.0036	0.0001	0	0.0048	0.0138	0	0	0.0034	0.0006	0.0009	0	0.008	0.91255	D	0.168	0.30631	T	0.997	0.70673	D	0.98	0.74843	D	0.000450	0.44317	U	0.000000	0.999039	0.81001	D	2.535	0.73915	M	2.66	0.12575	T	-1.62	0.46842	N	0.363	0.40465	-1.1248	0.02048	T	0.081	0.31972	T	10	0.006463617	0.00146	T	0.030832	0.53053	D	0.124	0.34239	.	.	0.31506500091	0.31122	0.07930690548798583	0.07865	0.152049090641	0.17156	0.441547840834	0.30789	T	0.007137	0.38051	T	-0.520742	0.00436	T	-0.527262	0.19561	T	0.0612582935470899	0.07366	T	0.89721	0.64041	D	0.19790393	0.41673	0.21892087	0.46612	0.19790393	0.41673	0.21892087	0.46611	-2.56	0.07153	T	.	.	0.152	0.33619	B	.;.;.	.;.;.	3.132152	0.42329	21.5	0.99619465539056717	0.75353	0.99006	0.89858	D	AEFGBI	0.563202	0.57048	D	0.445573429330412	0.63954	4.639287	0.407748524904614	0.62047	4.413752	0.999999682380183	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	4.656000	0.61178	6.073000	0.53275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	1.0:0.0:0.0:0.0	14.746	0.69108	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1197.33	33	chr9	131465057	.	A	G	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.36;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	18	0	1	0
chr9	131478506	131478506	G	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon17:c.G2563C:p.G855R,PRRC2B:NM_001384818:exon18:c.G4645C:p.G1549R,PRRC2B:NM_001384821:exon18:c.G4645C:p.G1549R,PRRC2B:NM_001384822:exon18:c.G4645C:p.G1549R,PRRC2B:NM_013318:exon18:c.G4645C:p.G1549R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0002	0.00419329	0.0010	0.0005	0	0.0118	0.0002	0.0002	0.0011	0.0002	0.0010931	169	154602	rs201654931	0.0006	0.0006	0.0006	0.0006	0.0161	0.0006	0.0006	0.0151	0.0147	0.0002	0	0.0010	0.0161	3.746e-05	0.0003	6.387e-05	0.0013	0.0007	0.0007	0.0007	0.0007	0.0007	0.0132	0.0006	0.0005	0.0107	0.0097	0.0004	0	0	0.0017	0.0132	0	0	0.0002	0	0.0010	0.066	0.36113	T	0.579	0.09829	T	0.997	0.70673	D	0.909	0.64565	D	0.026772	0.25864	U	0.180712	1	0.81001	D	2.14	0.59869	M	4.27	0.02513	T	-1.8	0.45949	N	0.319	0.51761	-0.8513	0.51878	T	0.144	0.46678	T	10	0.0068279207	0.00155	T	.	.	.	0.154	0.40340	0.121	0.02793	0.158540857583	0.15491	0.3947180178259431	0.39386	0.597579573787	0.54949	0.501875638962	0.39089	T	0.029098	0.20925	T	-0.467424	0.00882	T	-0.436237	0.29229	T	0.0271859247219928	0.01570	T	0.917108	0.70302	D	0.10066169	0.23771	0.11908732	0.28744	0.10066169	0.23771	0.11908732	0.28744	-3.784	0.27980	T	.	.	0.237	0.47094	B	.;.	.;.	4.336591	0.66495	25.0	0.9991175947735853	0.98095	0.93866	0.59418	D	ALL	0.543410	0.55875	D	0.18636832772727	0.50545	3.243454	0.222443109555185	0.51096	3.295067	0.999999998137408	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	4.533000	0.60328	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	16.374	0.83213	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	684.33	34	chr9	131478506	.	G	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=719;ExcessHet=0;FS=4.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.009;SOR=0.358	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1017	18	0	1	0
chr9	131554910	131554910	G	T	exonic	PRRT1B	.	nonsynonymous SNV	PRRT1B:NM_001365666:exon2:c.G394T:p.V132L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1795727	0.33099	T	.	.	.	.	.	.	.	.	.	0.16453799983381115	0.16373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.50095	0.15685	T	0.062251072	0.12982	0.2152951	0.46112	0.062251072	0.12981	0.2152951	0.46111	-3.29	0.13608	T	.	.	0.193	0.41341	B	.	.	1.461794	0.18842	13.96	0.87753345865653731	0.17456	0.11366	0.16586	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998598066339038	0.37268	0.11394	0.02926	0	0.060609	0.00678	0	0.125351	0.03401	0	0.109499	0.03221	0	0.0680738	0.16110	4.35	0.875	0.18266	0.379000	0.20315	1.186000	0.24731	0.490000	0.22344	0.007000	0.17678	0.544000	0.25431	0.718000	0.34707	0.333:0.0:0.667:0.0	8.564	0.32688	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	32.53	.	chr9	131554910	.	G	T	32.53	.	AC=2;AF=0.059;AN=34;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.2742;MLEAC=1;MLEAF=0.029;MQ=60;QD=16.26;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,62	16	1	0	2
chr9	131626023	131626023	C	T	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377936:exon9:c.G1454A:p.G485D,RAPGEF1:NM_001377937:exon9:c.G1487A:p.G496D,RAPGEF1:NM_001377938:exon9:c.G1487A:p.G496D,RAPGEF1:NM_001304275:exon10:c.G1601A:p.G534D,RAPGEF1:NM_001377935:exon10:c.G1601A:p.G534D,RAPGEF1:NM_005312:exon10:c.G1550A:p.G517D,RAPGEF1:NM_198679:exon10:c.G1604A:p.G535D	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00766635601893	0.0010	0.000199681	0.0009	0.0001	0.0016	0	0	0.0012	0.0056	0.0005	0.0008344	129	154602	rs200547421	0.0007	0.0007	0.0007	0.0008	0.0045	0.0007	0.0007	0.0032	0.0027	5.979e-05	0.0009	0.0094	0	1.873e-05	0.0045	0.0006	0.0013	0.0005	0.0007	0.0007	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0010	9.625e-05	0	0.0016	0.0095	0	0	0.0102	0.0006	0.0019	0	0.08	0.37118	T	0.128	0.35840	T	0.072	0.26577	B	0.046	0.34472	B	0.000029	0.55875	D	0.158578	0.998864	0.21844	N	1.245	0.31408	L	1.78	0.25678	T	-1.41	0.34795	N	0.369	0.43320	-0.9632	0.38567	T	0.027	0.11441	T	10	0.0063326657	0.00143	T	0.007666	0.20352	T	0.038	0.09825	.	.	0.331200485591	0.32731	0.13244675229844763	0.13168	0.332573851108	0.35307	0.362424194813	0.19739	T	0.270897	0.64319	T	-0.469592	0.00855	T	-0.503661	0.21969	T	0.0218538755304904	0.00892	T	0.924508	0.72366	D	0.07249969	0.16133	0.12690374	0.30556	0.07249969	0.16132	0.12690374	0.30555	-4.827	0.34905	T	.	.	0.125	0.28607	B	.;.;.	.;.;.	2.361632	0.30291	18.39	0.98853695507658379	0.47339	0.21254	0.21336	N	AEFDBCI	0.093245	0.18868	N	-0.787866794133495	0.13625	0.6725944	-0.676412891342385	0.17550	0.9337425	0.999962661069407	0.48965	0.712529	0.81865	0	0.696144	0.67643	0	0.635938	0.45252	0	0.741806	0.99463	0	.	.	5.07	1.9	0.24770	0.950000	0.28720	1.561000	0.27357	0.599000	0.40250	0.031000	0.20493	0.835000	0.27248	0.997000	0.79791	0.0:0.4277:0.4828:0.0895	9.060	0.35589	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1501.33	34	chr9	131626023	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=767;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.093;SOR=0.536	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	132166965	132166965	G	A	exonic	NTNG2	.	nonsynonymous SNV	NTNG2:NM_032536:exon2:c.G134A:p.R45H	.	419	1096	7	0	0	7	0.00318327	.	.	.	700849	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	.	0.0050	0.00259585	0.0064	0.0017	0.0022	0	0.0107	0.0096	0.0044	0.0013	0.0063647	984	154602	rs56128215	0.0074	0.0074	0.0077	0.0072	0.0081	0.0073	0.0073	0.0080	0.0079	0.0012	0.0032	0.0183	2.519e-05	0.0105	0.0043	0.0081	0.0079	0.0011	0.0056	0.0056	0.0055	0.0056	0.0080	0.0053	0.0051	0.0069	0.0066	0.0011	0	0.0080	0.0176	0	0.0094	0.0034	0.0074	0.0061	0.0008	0.136	0.38185	T	0.09	0.54934	T	0.929	0.51690	P	0.342	0.42471	B	0.011529	0.29496	N	0.297064	0.940376	0.26810	N	0	0.06538	N	1.95	0.22474	T	-0.28	0.12099	N	0.316	0.35620	-1.0415	0.16860	T	0.045	0.19397	T	10	0.0054740906	0.00121	T	.	.	.	0.100	0.28662	.	.	0.369898441341	0.36605	0.7174046155494864	0.71683	1.87575306562	0.92559	0.416593551636	0.27369	T	0.255654	0.62647	T	-0.506238	0.00527	T	-0.492988	0.23078	T	0.0106589007741484	0.00150	T	0.936406	0.76420	D	0.12338467	0.28974	0.14020489	0.33428	0.12338467	0.28974	0.14020489	0.33427	-9.626	0.74276	D	0.11888565413329401	0.11016	0.090	0.12797	B	.;.	.;.	5.193512	0.87108	29.1	0.99898201814941445	0.97048	0.81893	0.41208	D	AEFDGBHCI	0.307462	0.41433	N	0.259877712593569	0.54129	3.579306	0.389114499461602	0.60892	4.282212	0.999999999999373	0.74766	0.696267	0.57585	0	0.596491	0.49125	0	0.691665	0.62940	0	0.526665	0.08891	0	.	.	5.67	5.67	0.87673	2.220000	0.42549	7.530000	0.59902	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8459:0.1541	13.687	0.61999	952	0.10565	.;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	1582.33	34	chr9	132166965	.	G	A	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=789;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.542;SOR=0.589	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	18	0	1	0
chr9	132264633	132264633	A	G	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon26:c.T7640C:p.I2547T,SETX:NM_015046:exon26:c.T7640C:p.I2547T,SETX:NM_001351528:exon27:c.T7727C:p.I2576T	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1502	17	3	0	23	0.00759828	.	.	.	165502	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_provided|not_specified|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0633152070572	0.0054	0.00259585	0.0034	0.0006	0.0055	0	0.0005	0.0048	0.0055	0.0011	0.0036804	569	154602	rs151117904	0.0052	0.0052	0.0052	0.0051	0.0107	0.0051	0.0050	0.0086	0.0078	0.0012	0.0069	0.0007	0	0.0003	0.0107	0.0060	0.0054	0.0012	0.0043	0.0043	0.0044	0.0042	0.0122	0.0040	0.0039	0.0107	0.0102	0.0015	0	0.0122	0.0006	0	0.0004	0.0034	0.0055	0.0095	0.0006	0.315	0.14595	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	0.000502	0.00624	N	3.286410	1	0.08975	N	0	0.06538	N	-2.72	0.90622	D	0.42	0.03352	N	0.044	0.01658	-0.5751	0.65811	T	0.318	0.68735	T	10	0.0033735633	0.00059	T	0.063315	0.68928	D	0.112	0.31546	.	.	0.425028116352	0.42120	0.12267033688604907	0.12193	0.093049406823	0.10513	0.266960442066	0.05747	T	0.092795	0.39078	T	-0.533684	0.00365	T	-0.533686	0.18921	T	0.000574663953003263	0.00005	T	0.322168	0.06550	T	0.016643604	0.00212	0.03200239	0.01869	0.021115314	0.00697	0.032754432	0.02061	-2.87	0.08847	T	.	.	0.120	0.24833	B	.;.	.;.	-0.108979	0.03587	0.700	0.38995283768389621	0.02664	0.01355	0.04643	N	AEFGBI	0.021710	0.00998	N	-1.43950795165835	0.02300	0.1014283	-1.44411367920124	0.02824	0.1306009	0.999370126307587	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	-3.37	0.04591	0.238000	0.17782	0.985000	0.23152	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.455:0.2372:0.3079:0.0	6.013	0.18811	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.017663	0.035088	0.000000	0.017241	0.006098	0.000000	0.02632	1940.33	41	chr9	132264633	.	A	G	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=878;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.683;SOR=0.796	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr9	132269668	132269668	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon25:c.A7234G:p.I2412V,SETX:NM_001351528:exon25:c.A7234G:p.I2412V,SETX:NM_015046:exon25:c.A7234G:p.I2412V	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2092043	Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4	MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.214585478338	.	.	1.648e-05	0	0	0	0	0	0.0011	6.058e-05	1.29e-05	2	154602	rs202127812	1.71e-05	1.71e-05	5.445e-06	2.888e-05	0.0002	1.174e-05	9.92e-06	0.0001	0.0001	0	0	0	0	0	0.0002	3.597e-06	4.967e-05	0.0002	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.012	0.65419	D	0.019	0.59159	D	0.973	0.57599	D	0.898	0.63708	P	0.000023	0.55875	D	0.087475	0.932347	0.37019	D	1.375	0.34280	L	-3.18	0.93111	D	-0.98	0.25986	N	0.438	0.47672	0.926	0.96045	D	0.821	0.93969	D	10	0.56894165	0.65209	D	0.214585	0.87465	D	0.600	0.84183	0.713	0.84872	0.810620541579	0.80884	0.728966390495915	0.72840	0.388637755541	0.40126	0.622764647007	0.56119	T	0.477088	0.80746	T	0.00621221	0.52506	T	-0.0261991	0.68620	D	0.303031973854117	0.25128	T	0.950305	0.89869	D	0.46229586	0.64814	0.38704166	0.63582	0.46229586	0.64814	0.38704166	0.63582	-6.725	0.51999	T	0.694609613521574	0.77279	0.216	0.44553	B	.;.	.;.	4.427749	0.68635	25.3	0.99926606575202237	0.99103	0.93023	0.57131	D	AEFDBCIJ	0.683035	0.64585	D	0.516868831860595	0.68086	5.169169	0.55632999846481	0.71840	5.716387	0.999999999965238	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	5.913000	0.69690	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.783	0.69401	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3557.81	33	chr9	132269668	.	T	C	3557.81	.	AC=2;AF=0.053;AN=38;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.65;SOR=2.041	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1248	18	1	0	0
chr9	132402570	132402570	T	G	exonic	TTF1	.	nonsynonymous SNV	TTF1:NM_007344:exon2:c.A252C:p.K84N	.	430	1089	2	1	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0135143936976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.051	0.47828	T	0.994	0.66517	D	0.852	0.60758	P	0.001732	0.38161	N	0.117709	0.996665	0.22942	N	1.7	0.43825	L	2.17	0.19020	T	-1.37	0.33998	N	0.275	0.31140	-1.0766	0.08023	T	0.067	0.27399	T	10	0.2388328	0.41011	T	0.013514	0.32968	T	0.049	0.13647	0.166	0.07071	0.27132560031	0.26736	0.10376444171826926	0.10306	0.360806098794	0.37744	0.377824574709	0.21948	T	0.016569	0.13673	T	-0.230125	0.16634	T	-0.568335	0.15603	T	0.485940190889865	0.32115	T	0.756924	0.38041	T	0.08147025	0.18721	0.07214913	0.15532	0.08147025	0.18720	0.07214913	0.15531	-6.191	0.47850	T	.	.	0.514	0.65194	A	.	.	1.779305	0.22621	15.70	0.98420271085834909	0.41277	0.71461	0.35023	D	AEFDBI	0.115729	0.22743	N	-0.119198275264657	0.36556	2.114701	-0.273210851131215	0.28985	1.62032	0.999952627922581	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.2	1.34	0.21018	-0.020000	0.12466	0.118000	0.14877	0.660000	0.55035	0.937000	0.32526	0.016000	0.20520	0.169000	0.20946	0.0:0.1573:0.1649:0.6778	4.795	0.12634	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	115	chr9	132402570	.	T	G	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.663;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.493;SOR=0.636	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr9	132537613	132537615	CTT	-	exonic	CFAP77	.	nonframeshift deletion	CFAP77:NM_001282957:exon4:c.537_539del:p.F181del,CFAP77:NM_207417:exon5:c.645_647del:p.F217del	.	422	1089	10	1	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00259585	0.0037	0.0011	0.0024	0	0.0035	0.0052	0.0033	0.0023	0.0005763	15	26028	rs542793318	0.0052	0.0052	0.0053	0.0051	0.0061	0.0051	0.0051	0.0060	0.0059	0.0009	0.0025	0.0003	0	0.0047	0.0021	0.0061	0.0041	0.0022	0.0034	0.0034	0.0037	0.0031	0.0053	0.0032	0.0031	0.0049	0.0047	0.0011	0	0.0033	0	0.0002	0.0041	0	0.0053	0.0047	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	2226.29	33	chr9	132537612	.	CCTT	C	2226.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=802;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.61;ReadPosRankSum=-1.024;SOR=0.473	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr9	132582951	132582951	G	A	exonic	BARHL1	.	nonsynonymous SNV	BARHL1:NM_020064:exon1:c.G154A:p.A52T	.	422	1097	3	0	0	3	0.0013655	.	.	.	3642782	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0491059368425	7.7e-05	.	7.521e-05	0	8.67e-05	0	0.0003	3.052e-05	0	0.0002	5.82e-05	9	154602	rs373735108	6.637e-05	6.704e-05	6.127e-05	7.152e-05	0.0040	5.563e-05	5.153e-05	0.0027	0.0023	0	0.0001	0	0	0.0003	0.0040	1.709e-05	0.0002	0.0003	3.941e-05	3.94e-05	1.284e-05	6.722e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	6.539e-05	0	0	0.0003	0	1.47e-05	0	0.0002	0.104	0.29959	T	0.233	0.24913	T	0.281	0.32101	B	0.051	0.25434	B	0.000007	0.62929	D	0.064020	0.599698	0.30951	N	0	0.06538	N	-2.74	0.90735	D	-0.5	0.15782	N	0.099	0.18376	-0.1523	0.78860	T	0.425	0.76863	T	10	0.08294466	0.13746	T	0.049106	0.63667	D	0.309	0.63055	.	.	0.950444208553	0.94992	0.29618074405615297	0.29531	0.832219940046	0.67670	0.595451235771	0.52262	T	0.118866	0.43999	T	-0.217516	0.18335	T	-0.249899	0.49827	T	0.0449748529678096	0.04597	T	0.862114	0.55677	D	0.09553367	0.22484	0.18083125	0.40908	0.09553367	0.22484	0.18083125	0.40907	-5.268	0.39625	T	.	.	0.074	0.04975	B	.;.	.;.	4.687716	0.75076	26.3	0.99710052362281276	0.81283	0.05229	0.11059	N	AEFDBHCI	0.697989	0.65581	D	-0.0927991510003082	0.37706	2.197699	0.067112463911143	0.42906	2.603604	0.999999736312751	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	4.868000	0.62716	11.698000	0.94457	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3288:0.6712:0.0	10.312	0.42894	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	1782.33	34	chr9	132582951	.	G	A	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.271;DP=785;ExcessHet=0;FS=4.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.087;SOR=0.431	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	18	0	1	0
chr9	132888304	132888304	T	C	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon4:c.T362C:p.V121A,SPACA9:NM_001316898:exon4:c.T362C:p.V121A,SPACA9:NM_001316900:exon4:c.T362C:p.V121A,SPACA9:NM_018956:exon4:c.T362C:p.V121A	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0189249496858	.	.	7.739e-05	0	0	0	0	9.226e-05	0	0.0002	6.47e-05	10	154602	rs768111280	4.591e-05	4.72e-05	3.272e-05	5.926e-05	0.0014	3.668e-05	3.353e-05	0.0007	0.0005	0	2.244e-05	0	2.521e-05	0	0.0014	3.062e-05	9.955e-05	0.0002	3.941e-05	3.937e-05	3.855e-05	4.03e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	1.471e-05	0.0005	0.0006	0.447	0.09075	T	0.572	0.08746	T	0.994	0.68779	D	0.851	0.77487	P	0.000001	0.84330	D	0.000000	0.999935	0.51612	D	.	.	.	0.86	0.46777	T	-1.45	0.35597	N	0.521	0.64989	-0.8160	0.54183	T	0.221	0.58447	T	10	0.27782005	0.45350	T	0.018925	0.41149	T	0.173	0.43840	0.458	0.52427	0.515548328021	0.51195	0.3405624195134677	0.33969	0.415299196279	0.42189	.	.	.	0.091269	0.38760	T	-0.235534	0.15924	T	-0.279913	0.46812	T	0.194167748093605	0.20087	T	0.816918	0.52723	T	0.15614012	0.35251	0.15117845	0.35622	0.15614012	0.35251	0.15117845	0.35621	-3.644	0.18715	T	.	.	0.496	0.64389	A	.;.;.	.;.;.	4.393503	0.67818	25.1	0.99659459880725032	0.77820	0.89757	0.50429	D	AEFDBCI	0.436601	0.49675	N	0.366555940255754	0.59620	4.142826	0.359034458086211	0.59053	4.080109	0.999999999212499	0.74766	0.615465	0.37627	0	0.659912	0.62753	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	3.193000	0.50698	6.154000	0.54239	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	13.672	0.61911	791	0.46100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1815.33	35	chr9	132888304	.	T	C	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=771;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.399;SOR=0.526	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1396	18	0	1	0
chr9	132888505	132888505	C	A	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon4:c.C563A:p.T188N,SPACA9:NM_001316898:exon4:c.C563A:p.T188N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.117314325715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327008035	2.776e-06	2.736e-06	1.378e-06	4.193e-06	0.0002	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.721e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.034	0.44029	D	0.189	0.28575	T	0.911	0.50336	P	0.61	0.51087	P	0.000781	0.41888	D	0.154834	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.86	0.23372	N	0.035	0.01004	-0.8664	0.50798	T	0.162	0.49781	T	9	0.14817384	0.28065	T	0.117314	0.79705	D	0.062	0.17934	0.122	0.02867	0.364926071151	0.36103	0.15624071746208207	0.15545	.	.	.	.	.	0.023013	0.17639	T	-0.259313	0.12980	T	-0.610262	0.11964	T	0.406329482793808	0.29180	T	0.354964	0.08031	T	0.103296936	0.24415	0.117685325	0.28409	0.103296936	0.24415	0.117685325	0.28408	-3.954	0.23113	T	.	.	0.091	0.12985	B	.;.	.;.	1.186895	0.15778	12.10	0.98558210564408433	0.42935	0.45028	0.27448	N	AEFDGBCIJ	0.099165	0.19968	N	0.0427893278125286	0.43811	2.66684	-0.0346728285868391	0.38159	2.244329	0.999999975734668	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	0.716000	0.25508	1.331000	0.25669	0.597000	0.34315	0.097000	0.22731	0.019000	0.20708	0.052000	0.15357	0.0:0.9037:0.0:0.0963	9.790	0.39869	791	0.46100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1631.33	36	chr9	132888505	.	C	A	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.11;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1396	18	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:42:.:.:0,42,406:.	12	0	5	2
chr9	133256020	133256020	G	A	exonic	ABO	.	unknown	UNKNOWN	.	429	1078	13	2	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0010	0.0005	0.0008	0	0	0.0005	0	0.0029	0.0004204	65	154602	rs201439325	0.0003	0.0003	0.0002	0.0004	0.0052	0.0003	0.0003	0.0038	0.0033	6.12e-05	0.0006	7.828e-05	5.294e-05	0	0.0052	0.0001	0.0006	0.0022	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	0.0005	0	0	0	0.0306	0.0001	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006559	0.000000	0.005435	0.020588	0.000000	0.008772	0.003049	0.003788	0.02632	1955.33	38	chr9	133256020	.	G	A	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.29;DP=1935;ExcessHet=0;FS=2.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.697;SOR=0.892	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr9	133256204	133256204	C	T	exonic	ABO	.	unknown	UNKNOWN	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00179712	0.0013	0.0001	0.0002	0	0	0.0013	0.0050	0.0038	0.0010673	165	154602	rs56039827	0.0008	0.0008	0.0007	0.0009	0.0055	0.0008	0.0007	0.0040	0.0035	0.0001	0.0004	0.0130	0	0	0.0055	0.0004	0.0012	0.0034	0.0006	0.0006	0.0008	0.0004	0.0043	0.0005	0.0005	0.0029	0.0024	2.408e-05	0	0.0003	0.0089	0	0	0.0068	0.0004	0.0024	0.0043	.	.	.	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.05037	.	.	.	.	.	.	.	0.003694743	0.00068	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.4500629653008766	0.44924	.	.	0.42605227232	0.28669	T	0.029195	0.20974	T	-0.310769	0.07680	T	-0.220964	0.52645	T	.	.	.	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17103	B	.;.	.;.	1.103839	0.14884	11.41	0.65845248864764483	0.07888	0.01433	0.04820	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.682566692743751	0.22497	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.058706	0.01089	0	0.0650626	0.15553	4.69	-1.05	0.09523	-1.307000	0.02841	-6.152000	0.01481	0.555000	0.28237	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2167:0.5425:0.2408	6.120	0.19369	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.000000	0.014620	0.050000	0.008621	0.006135	0.003788	0.02632	2412.33	38	chr9	133256204	.	C	T	2412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=2139;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.31;SOR=0.714	GT:AD:DP:GQ:PL	0/0:172,0:172:99:0,120,1800	18	0	1	0
chr9	133256235	133256235	T	-	exonic	ABO	.	unknown	UNKNOWN	.	424	1075	23	0	0	23	0.0105844	.	.	.	2738108	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	0.0022	0.00319489	0.0036	0.0005	0.0008	0	0.0005	0.0024	0.0035	0.0144	0.0006147	16	26028	rs563704490	0.0033	0.0033	0.0029	0.0037	0.0146	0.0033	0.0032	0.0140	0.0137	0.0002	0.0009	0	0	0.0003	0.0062	0.0030	0.0037	0.0146	0.0019	0.0019	0.0019	0.0020	0.0128	0.0017	0.0017	0.0103	0.0094	0.0005	0	0.0008	0	0.0002	0.0002	0.0068	0.0028	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2729.29	38	chr9	133256234	.	GT	G	2729.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=1423;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.402;SOR=0.522	GT:AD:DP:GQ:PL	0/0:148,0:148:99:0,120,1800	18	0	1	0
chr9	133333753	133333753	G	A	exonic	SURF6	.	stopgain	SURF6:NM_001278942:exon3:c.C358T:p.R120X,SURF6:NM_006753:exon3:c.C358T:p.R120X	.	319	1202	1	0	0	1	0.0004158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.539e-06	0	0	0	0	1.549e-05	0	0	1.29e-05	2	154602	rs782430714	1.026e-05	1.026e-05	1.225e-05	8.252e-06	2.319e-05	6.16e-06	4.89e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374444	0.88350	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.288605	0.98727	40	0.99838040974842757	0.91886	0.90795	0.52275	D	AEFDGBHCI	0.124417	0.24046	N	0.774967081602791	0.84518	8.310153	0.619363033421409	0.76345	6.474271	0.999999996801292	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	3.71	0.41733	3.777000	0.55071	7.387000	0.58489	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.089:0.0:0.7463:0.1647	8.106	0.30048	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	805.33	33	chr9	133333753	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=707;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.558;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	18	0	1	0
chr9	133336041	133336041	C	G	exonic	SURF6	.	nonsynonymous SNV	SURF6:NM_001278942:exon1:c.G92C:p.R31P,SURF6:NM_006753:exon1:c.G92C:p.R31P	.	431	1089	2	0	0	2	0.000917431	0.0003	0.04	.	2360945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0269648490655	7.7e-05	.	0.0001	0	8.696e-05	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs376694534	8.569e-05	8.619e-05	6.413e-05	0.0001	0.0007	7.328e-05	6.83e-05	0.0005	0.0005	0	2.237e-05	0	0	0	0.0002	5.127e-05	0.0001	0.0007	5.907e-05	5.905e-05	2.569e-05	9.394e-05	0.0002	3.074e-05	2.208e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.199	0.20456	T	0.119	0.36101	T	0.494	0.37037	P	0.105	0.31087	B	0.559293	0.11353	N	0.812784	0.999921	0.19486	N	1.355	0.33814	L	2.48	0.14657	T	-0.09	0.08340	N	0.078	0.05287	-0.9956	0.31136	T	0.017	0.06950	T	10	0.040412307	0.02607	T	0.026965	0.49829	D	0.014	0.01968	.	.	0.265929055128	0.26215	0.09557347173259692	0.09489	0.797162294829	0.66084	0.239780694246	0.02771	T	0.008998	0.08221	T	-0.513761	0.00478	T	-0.633027	0.10187	T	0.14006247906551	0.16280	T	0.444256	0.12390	T	0.1428249	0.32851	0.12365405	0.29814	0.1428249	0.32850	0.12365405	0.29813	-1.977	0.03095	T	.	.	0.097	0.15743	B	.	.	1.984834	0.25217	16.68	0.86278701801214985	0.16430	0.00569	0.02581	N	AEFGBHCIJ	0.235994	0.35851	N	-0.733790988952806	0.15077	0.7566664	-0.802282683916515	0.14441	0.754518	0.99999999866975	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.79	1.73	0.23565	1.163000	0.31408	4.157000	0.42186	0.549000	0.26987	0.202000	0.24332	0.898000	0.27928	0.020000	0.11549	0.2902:0.3768:0.2027:0.1303	1.260	0.01879	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr9	133336041	.	C	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.298;DP=693;ExcessHet=0;FS=2.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.028;SOR=1.078	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	18	0	1	0
chr9	133344197	133344197	C	T	exonic	MED22	.	nonsynonymous SNV	MED22:NM_133640:exon4:c.G341A:p.R114Q,MED22:NM_181491:exon4:c.G341A:p.R114Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.023992235263	7.7e-05	0.00139776	0.0007	9.612e-05	0	0	0	1.499e-05	0.0022	0.0050	0.0006145	95	154602	rs142343469	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0046	0	0	0	0	0	0	1.259e-05	0.0004	0.0051	0.0002	0.0002	9.001e-05	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	7.227e-05	0	0	0	0	0	0	0	0	0.0050	0.219	0.19023	T	0.344	0.17804	T	0.024	0.33247	B	0.006	0.19048	B	0.000003	0.62929	N	0.101148	0.915572	0.36529	D	0.47	0.13106	N	.	.	.	-0.61	0.18042	N	0.505	0.53708	-1.0589	0.12032	T	0.045	0.19478	T	9	0.009196073	0.00208	T	0.023992	0.46971	T	0.071	0.20720	.	.	0.503930629158	0.50032	0.26908566913718107	0.26821	.	.	0.33851364255	0.16215	T	0.030498	0.21607	T	-0.442885	0.01244	T	-0.407859	0.32472	T	0.0418379709464121	0.04026	T	0.973003	0.90263	D	0.07880888	0.17968	0.106936164	0.25735	0.07880888	0.17968	0.106936164	0.25734	-3.646	0.19880	T	.	.	0.064	0.01600	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.940157	0.39093	20.9	0.99557279373623619	0.71521	0.82908	0.42075	D	AEFDGBI	0.361192	0.45089	N	-0.189479651899786	0.33571	1.906134	0.00146737525371851	0.39785	2.364159	0.999999996659991	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	4.06	0.46572	3.851000	0.55634	3.235000	0.36931	-0.190000	0.09434	1.000000	0.71638	0.999000	0.35428	0.605000	0.31514	0.0:0.6583:0.0:0.3417	3.650	0.07736	921	0.19240	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1928.33	42	chr9	133344197	.	C	T	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.568;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.33;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	18	0	1	0
chr9	133414905	133414905	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279351:exon2:c.C53T:p.S18L,REXO4:NM_020385:exon2:c.C332T:p.S111L	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00318519543198	0.0057	0.00199681	0.0057	0.0010	0.0078	0.0002	0.0047	0.0067	0.0055	0.0064	0.0054851	848	154602	rs141547732	0.0061	0.0061	0.0062	0.0060	0.0070	0.0060	0.0060	0.0064	0.0064	0.0011	0.0070	0.0056	0.0005	0.0034	0.0066	0.0066	0.0059	0.0062	0.0050	0.0050	0.0052	0.0047	0.0073	0.0047	0.0046	0.0066	0.0064	0.0013	0.0263	0.0073	0.0055	0.0008	0.0020	0	0.0071	0.0081	0.0054	0.197	0.20607	T	0.393	0.16086	T	0.002	0.09854	B	0.001	0.04355	B	0.000002	0.00162	N	4.198630	1	0.08975	N	1.645	0.42016	L	2.17	0.22881	T	-1.22	0.30964	N	0.15	0.15328	-1.0361	0.18513	T	0.039	0.16935	T	10	0.0038892627	0.00074	T	0.003185	0.06966	T	0.069	0.20116	.	.	0.177238962908	0.17366	0.10963013122170862	0.10892	0.189630278028	0.21286	0.279996752739	0.07492	T	0.007624	0.07015	T	-0.638587	0.00085	T	-0.679675	0.07003	T	0.00812632363327748	0.00097	T	0.60194	0.24617	T	0.09133971	0.21400	0.0930797	0.21969	0.09133971	0.21399	0.0930797	0.21968	-3.388	0.14896	T	.	.	0.073	0.07318	B	.;.	.;.	1.396697	0.18099	13.55	0.5552218337293372	0.05360	0.21902	0.21564	N	AEFBI	0.061670	0.11805	N	-0.837309502010327	0.12365	0.6022439	-0.844847472604116	0.13411	0.6955832	0.999916208656021	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	2.76	0.31527	1.490000	0.35181	2.835000	0.35045	0.676000	0.76740	0.011000	0.18532	0.256000	0.23951	0.021000	0.11733	0.1811:0.0:0.8189:0.0	8.752	0.33783	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.050000	0.017241	0.006098	0.003788	0.02632	1096.33	34	chr9	133414905	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=707;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.452;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	18	0	1	0
chr9	133432622	133432622	C	T	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon9:c.C1022T:p.P341L,ADAMTS13:NM_139026:exon9:c.C929T:p.P310L,ADAMTS13:NM_139027:exon9:c.C1022T:p.P341L	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	723417	not_provided|Upshaw-Schulman_syndrome	MedGen:C3661900|MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0080	0.00579073	0.0044	0.0307	0.0022	0	0	0.0003	0	0.0004	0.0013907	215	154602	rs115943536	0.0008	0.0008	0.0009	0.0007	0.0243	0.0007	0.0007	0.0229	0.0223	0.0243	0.0025	0	0	0	0.0011	8.041e-05	0.0019	0.0001	0.0076	0.0076	0.0080	0.0071	0.0260	0.0072	0.0071	0.0248	0.0242	0.0260	0	0.0036	0	0	0	0	0.0001	0.0038	0	0.038	0.42783	D	0.004	0.74150	D	0.998	0.77913	D	0.379	0.50264	B	.	.	.	.	0.999979	0.58761	D	1.935	0.51832	L	-0.41	0.69536	T	-6.54	0.92217	D	0.503	0.53708	-0.5920	0.65140	T	0.261	0.63230	T	9	0.0063353777	0.00143	T	.	.	.	0.259	0.57090	.	.	0.855186993987	0.85378	0.7091305649128969	0.70855	0.406051081287	0.41486	0.36984360218	0.20809	T	0.433611	0.78099	T	-0.336934	0.05604	T	-0.236486	0.51141	T	0.069391058159247	0.08566	T	0.835416	0.54791	T	0.15741336	0.35470	0.17357942	0.39694	0.21991278	0.44534	0.19542222	0.43217	-9.14	0.68594	D	.	.	0.097	0.29004	B	.;.;.;.	.;.;.;.	4.277419	0.65129	24.8	0.99626161008341585	0.75716	0.89023	0.49246	D	AEFDBI	0.572417	0.57600	D	-0.0714330478663963	0.38650	2.266884	-0.0297283445908604	0.38378	2.26027	0.999278512988355	0.38974	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.35	4.45	0.53365	2.651000	0.46338	3.768000	0.39743	0.596000	0.33519	0.980000	0.35271	0.998000	0.33993	0.257000	0.23443	0.1568:0.7635:0.0:0.0797	8.096	0.29992	844	0.36711	ADAM, cysteine-rich;ADAM, cysteine-rich;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001025	0.010417	0.001377	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	723.33	33	chr9	133432622	.	C	T	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.897;DP=696;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	18	0	1	0
chr9	133463535	133463535	T	G	exonic	CACFD1	.	nonsynonymous SNV	CACFD1:NM_001135775:exon2:c.T174G:p.I58M,CACFD1:NM_001242369:exon2:c.T174G:p.I58M,CACFD1:NM_001242370:exon2:c.T174G:p.I58M,CACFD1:NM_017586:exon2:c.T174G:p.I58M	.	436	45	253	778	10	1819	0.952607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	.	0.00259585	0.0059	0.0013	0.0022	0	0.0148	0.0066	0.0066	0.0084	0.0001153	3	26028	rs3124765	0.0069	0.0069	0.0068	0.0070	0.0087	0.0068	0.0067	0.0082	0.0080	0.0012	0.0019	0.0028	0	0.0129	0.0050	0.0072	0.0067	0.0087	0.0053	0.0053	0.0048	0.0058	0.0079	0.0050	0.0049	0.0066	0.0064	0.0012	0.0033	0.0033	0.0023	0	0.0145	0.0340	0.0071	0.0057	0.0079	0.092	0.51248	T	0.308	0.47828	T	0.999	0.77913	D	0.996	0.84481	D	0.000006	0.62929	D	0.101533	0.0179067	0.39852	P	2.14	0.59869	M	0.63	0.88997	T	-1.44	0.46146	N	0.807	0.92084	0.251	0.86755	D	0.697	0.89561	D	9	0.056706637	0.06399	T	.	.	.	0.400	0.71401	.	.	0.285316908763	0.28143	0.8590021238515612	0.85863	0.562485881727	0.52722	0.563520610332	0.47765	T	0.07504	0.35083	T	-0.018878	0.49012	T	0.206221	0.83466	D	0.0508436183059116	0.05647	T	0.880812	0.74900	D	0.11979528	0.28200	0.14666119	0.34737	0.11979528	0.28200	0.14666119	0.34736	-4.443	0.36764	T	.	.	0.661	0.71374	P	.;.;.;.;.	.;.;.;.;.	0.703178	0.10722	7.411	0.9871455286076215	0.45113	0.14597	0.18486	N	AEFDGBCI	0.234158	0.35696	N	-0.888515522714864	0.11116	0.5346667	-1.0411234950966	0.08893	0.4395312	0.999687218535794	0.41756	0.651	0.46895	0	0.611049	0.52481	0	0.779548	0.98927	0	0.683762	0.67416	0	.	.	4.81	-2.59	0.05847	-2.293000	0.01226	-5.196000	0.01811	-2.098000	0.00395	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1614:0.4159:0.0:0.4227	6.727	0.22551	774	0.48577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	48313.2	105	chr9	133463535	.	T	G	48313.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.942;DP=2088;ExcessHet=2.0135;FS=1.559;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.014;SOR=0.561	GT:AD:DP:GQ:PL	0/0:0,0:121:99:3671,3671,3671	18	0	1	0
chr9	133475447	133475447	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon5:c.G727A:p.D243N,SLC2A6:NM_017585:exon5:c.G727A:p.D243N	.	424	1075	21	2	0	25	0.0114943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.21043458979	0.0002	0.00179712	0.0013	0.0001	0.0034	0	0	0.0004	0.0012	0.0052	0.0010802	167	154602	rs149329547	0.0006	0.0006	0.0004	0.0007	0.0065	0.0006	0.0005	0.0048	0.0043	2.99e-05	0.0032	7.666e-05	7.563e-05	0	0.0065	0.0002	0.0008	0.0049	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	7.212e-05	0	0.0014	0	0	0	0.0102	0.0002	0.0024	0.0050	0.05	0.42783	D	0.32	0.66756	T	0.996	0.73220	D	0.814	0.64797	P	0.010641	0.29847	U	0.199113	0.922276	0.36713	D	1.59	0.40313	L	-0.99	0.75911	T	-3.74	0.71276	D	0.223	0.26717	-0.0621	0.80948	T	0.436	0.77599	T	10	0.01229012	0.00265	T	0.210435	0.87252	D	0.434	0.73951	.	.	0.863918522964	0.86260	0.5297243923000858	0.52896	0.290067604166	0.31416	0.494619250298	0.38080	T	0.337916	0.70724	T	-0.427621	0.01533	T	-0.386208	0.34995	T	0.05322409154485	0.06057	T	.	.	.	0.09328398	0.21906	0.10218753	0.24486	0.09328398	0.21906	0.10218753	0.24485	-6.617	0.51803	T	.	.	0.113	0.29311	B	.;.;.	.;.;.	3.400685	0.47126	22.4	0.99727939379243813	0.82549	0.96365	0.68782	D	AEFDGBI	0.375660	0.46010	N	0.404137749036085	0.61649	4.368883	0.331540844064204	0.57402	3.905795	0.999999999393115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.021000	0.56907	3.885000	0.40262	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	18.131	0.89532	775	0.48401	.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008081	0.000000	0.006812	0.017647	0.000000	0.008621	0.006211	0.003788	0.02632	1197.33	38	chr9	133475447	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=750;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.981;SOR=0.984	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1207	18	0	1	0
chr9	133524837	133524837	G	A	exonic	MYMK	.	nonsynonymous SNV	MYMK:NM_001080483:exon1:c.C8T:p.T3M	.	415	1106	1	0	0	1	0.000451875	.	.	.	2410522	MYMK-related_disorder|Carey-Fineman-Ziter_syndrome_1	.|MONDO:MONDO:0800437,MedGen:C5676876,OMIM:254940	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.0775461392727	0.0005	0.000199681	0.0004	0	0	0.0001	0	0.0006	0	0.0002	0.0003169	49	154602	rs140742530	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	8.04e-05	7.359e-05	5.993e-05	2.252e-05	0.0097	7.577e-05	0	0.0002	9.371e-05	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	4.766e-05	3.339e-05	4.811e-05	0	0	0.0098	0.0002	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.983	0.60381	D	0.572	0.49931	P	0.000204	0.47681	D	0.140029	0.990622	0.41199	D	.	.	.	0.93	0.44065	T	-0.13	0.08971	N	0.348	0.38950	-0.8069	0.54736	T	0.141	0.46091	T	10	0.009785444	0.00220	T	0.077546	0.72797	D	0.164	0.42212	.	.	0.486422812247	0.48275	0.5903832376985484	0.58968	0.335183319762	0.35526	0.532271564007	0.43354	T	0.02079	0.16305	T	-0.354255	0.04465	T	-0.446315	0.28105	T	0.0675943529257619	0.08309	T	0.865313	0.56401	D	0.112453595	0.26566	0.18925296	0.42261	0.112453595	0.26566	0.18925296	0.42260	-4.071	0.24861	T	.	.	0.128	0.27222	B	.	.	4.032003	0.59633	24.1	0.99524951648821036	0.69469	0.96056	0.67333	D	AEFDBCI	0.870826	0.79196	D	0.418914619836409	0.62463	4.462557	0.390839021829125	0.60999	4.294108	0.999999999999461	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	7.497000	0.80382	8.356000	0.77021	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	16.617	0.84772	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	696.33	33	chr9	133524837	.	G	A	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.68;SOR=0.538	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr9	133555815	133555815	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon11:c.G1534A:p.G512R,ADAMTSL2:NM_014694:exon11:c.G1534A:p.G512R	Geleophysic dysplasia 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0213328055307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.927e-05	4.925e-05	3.813e-05	6.052e-05	0.0007	3.993e-05	3.67e-05	0.0005	0.0005	0	0	0	0	0	0	8.093e-06	8.281e-05	0.0007	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.066	0.36113	T	0.35	0.26386	T	0.974	0.57829	D	0.302	0.41118	B	0.021115	0.26899	N	0.335186	0.921166	0.36682	D	2.175	0.60977	M	0.09	0.61559	T	-0.95	0.29114	N	0.532	0.56058	-0.8753	0.50127	T	0.127	0.43277	T	10	0.2730617	0.44853	T	0.021333	0.44082	T	0.162	0.41843	0.472	0.54699	0.864028493511	0.86271	0.4274368802569719	0.42660	0.540269727538	0.51223	0.503591358662	0.39328	T	0.029999	0.21369	T	0.0701374	0.60867	D	-0.137029	0.60374	T	0.787404239177704	0.45520	D	0.749125	0.37025	T	0.1544964	0.34966	0.16703887	0.38558	0.1544964	0.34966	0.16703887	0.38557	-7.82	0.59837	D	.	.	0.246	0.48093	B	.;.;.	.;.;.	3.547430	0.49846	22.8	0.99681849564042158	0.79307	0.90071	0.50965	D	AEFDGBI	0.579759	0.58044	D	0.252443786008626	0.53758	3.543519	0.315028224910528	0.56421	3.805515	0.999394745013965	0.39470	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	4.988000	0.63592	8.257000	0.76870	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0807:0.0:0.9193:0.0	13.065	0.58439	796	0.45353	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1890.33	34	chr9	133555815	.	G	A	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=788;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.822;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q,ADAMTSL2:NM_014694:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2101.33	35	chr9	133568440	.	G	A	2101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=970;ExcessHet=0;FS=3.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.587;SOR=0.966	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr9	133636634	133636634	G	C	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon1:c.G263C:p.G88A	Dopamine beta-hydroxylase deficiency, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	317586	DBH-related_disorder|not_provided|Orthostatic_hypotension_1	.|MedGen:C3661900|MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.934	0.351909165419	0.0028	0.000998403	0.0035	0.0014	0.0030	0	0.0015	0.0051	0.0067	0.0013	0.0034799	538	154602	rs3025380	0.0040	0.0040	0.0041	0.0040	0.0080	0.0040	0.0039	0.0061	0.0055	0.0010	0.0024	0.0152	0	0.0014	0.0080	0.0043	0.0050	0.0016	0.0034	0.0034	0.0037	0.0030	0.0050	0.0031	0.0030	0.0046	0.0044	0.0009	0	0.0041	0.0124	0	0.0016	0.0034	0.0050	0.0033	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.16	0.88528	M	-2.95	0.91903	D	-4.85	0.81107	D	0.975	0.98563	1.024	0.97612	D	0.902	0.96741	D	10	0.025107235	0.00716	T	0.351909	0.92290	D	0.934	0.98489	.	.	0.877949692981	0.87676	0.9589649888800273	0.95882	0.377804824758	0.39210	0.603336751461	0.53374	T	0.974329	0.99740	D	0.145968	0.68889	D	0.447928	0.93525	D	0.0252718468947385	0.01308	T	0.911409	0.77272	D	0.90667933	0.91987	0.8593092	0.92132	0.9263939	0.93878	0.87608695	0.93289	-8.913	0.67135	D	0.7378679835239934	0.81985	0.576	0.73202	P	.;.	.;.	4.539637	0.71347	25.7	0.99816867889926597	0.89973	0.97617	0.75933	D	AEFDBCI	0.963699	0.98566	D	0.896269077364951	0.91575	10.95371	0.806322266880859	0.90229	10.31337	0.999999999989607	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	9.444000	0.96751	11.581000	0.93342	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.283000	0.24091	0.0:0.0:1.0:0.0	18.826	0.92088	850	0.35610	DOMON domain|DOMON domain|DOMON domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.014946	0.008772	0.000000	0.008621	0.009146	0.007576	0.02632	1183.33	34	chr9	133636634	.	G	C	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=780;ExcessHet=0;FS=3.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.561;SOR=0.994	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr9	133657197	133657197	C	T	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon11:c.C1690T:p.H564Y	Dopamine beta-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0387505114198	.	.	8.253e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs750802720	3.694e-05	3.694e-05	4.22e-05	3.163e-05	0.0003	2.894e-05	2.592e-05	6.092e-05	2.956e-05	0	0	0	0	0	0.0003	4.317e-05	4.967e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.01	0.56456	D	0.055	0.46862	T	0.989	0.62824	D	0.854	0.60866	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	0.79	0.49068	T	-2.89	0.60665	D	0.79	0.78641	-0.5630	0.66289	T	0.290	0.66182	T	10	0.7973361	0.79188	D	0.038751	0.58406	D	0.254	0.56428	0.427	0.47350	0.618542639961	0.61546	0.8554747146868882	0.85510	0.316032876801	0.33877	0.644298434258	0.59175	T	0.413427	0.76729	T	0.00410759	0.52221	T	-0.0459724	0.67297	D	0.913207411766052	0.56939	D	0.892111	0.62800	D	0.52657956	0.68636	0.4091983	0.65215	0.52657956	0.68637	0.4091983	0.65215	-5.378	0.40707	T	0.458942262129018	0.54145	0.195	0.41557	B	.	.	4.311994	0.65921	24.9	0.99761525984265409	0.85091	0.97186	0.73196	D	AEFDBI	0.917380	0.88491	D	0.640698364606195	0.75767	6.364681	0.606372967357576	0.75403	6.304117	0.999999999922041	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	5.724000	0.68148	4.638000	0.44143	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	18.449	0.90643	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	46	chr9	133657197	.	C	T	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.753;DP=828;ExcessHet=0;FS=2.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.12;SOR=0.483	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1473	18	0	1	0
chr9	133729776	133729776	C	T	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon6:c.G904A:p.E302K,SARDH:NM_007101:exon6:c.G904A:p.E302K	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.142168681597	.	.	3.311e-05	0	0	0	0	6.017e-05	0	0	2.59e-05	4	154602	rs773227673	2.944e-05	3.215e-05	2.589e-05	3.303e-05	0.0002	2.219e-05	1.972e-05	2.455e-05	2.143e-05	0	4.474e-05	0	0	0	0.0002	3.328e-05	3.312e-05	1.16e-05	7.229e-05	7.223e-05	6.424e-05	8.072e-05	0.0005	3.972e-05	3.128e-05	0.0003	0.0002	4.826e-05	0	0.0005	0	0	0	0	0	0.0005	0	0.153	0.24372	T	0.432	0.51112	T	0.721	0.42361	P	0.271	0.39904	B	0.000005	0.62929	D	0.103566	0.999992	0.58761	D	1.57	0.39626	L	1.6	0.81399	T	-1.87	0.46146	N	0.574	0.63374	-0.2436	0.76532	T	0.404	0.75473	T	10	0.4514609	0.58725	T	0.142169	0.82456	D	0.208	0.49714	0.611	0.74418	0.728364398758	0.72595	0.7421632141352067	0.74162	0.530478802121	0.50583	0.689001202583	0.65563	T	0.389153	0.78673	T	0.0825542	0.62338	D	0.0112579	0.71063	D	0.510109186172485	0.33001	D	0.981385	0.94316	D	0.44232488	0.63552	0.35431033	0.60978	0.44232488	0.63553	0.35431033	0.60978	-10.148	0.74793	D	.	.	0.100	0.30529	B	.;.;.;.;.;.	.;.;.;.;.;.	3.281184	0.44954	22.0	0.99891764985232467	0.96589	0.90957	0.52583	D	AEFDBHCI	0.765446	0.70193	D	0.229507067955209	0.52632	3.436318	0.305794077168795	0.55880	3.750814	0.999937386682344	0.46732	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	3.680000	0.54375	5.674000	0.49268	-1.080000	0.01570	0.996000	0.39380	1.000000	0.68203	0.472000	0.28386	0.0:1.0:0.0:0.0	18.337	0.90232	833	0.38804	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1730.33	44	chr9	133729776	.	C	T	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=827;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.73;SOR=0.575	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	134034802	134034802	T	C	exonic	BRD3	.	nonsynonymous SNV	BRD3:NM_007371:exon11:c.A1964G:p.K655R	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.113695930641	0.0028	0.000399361	0.0023	0.0002	0.0013	0	0.0023	0.0036	0.0011	0.0004	0.0022962	355	154602	rs149702159	0.0023	0.0023	0.0023	0.0024	0.0027	0.0023	0.0022	0.0026	0.0026	0.0002	0.0009	3.826e-05	0	0.0032	0.0019	0.0027	0.0022	0.0005	0.0022	0.0022	0.0025	0.0019	0.0039	0.0020	0.0019	0.0035	0.0033	0.0004	0	0.0018	0.0003	0	0.0020	0.0034	0.0039	0.0014	0.0006	0.041	0.41915	D	0.102	0.38450	T	0.996	0.68779	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.930221	0.36951	D	2.335	0.66956	M	2.01	0.21291	T	-1.59	0.38345	N	0.406	0.44666	-0.9890	0.32853	T	0.127	0.43462	T	10	0.012832761	0.00274	T	0.113696	0.79229	D	0.098	0.28162	.	.	0.599699738176	0.59650	0.5583704437465223	0.55764	0.601662180277	0.55205	0.607578933239	0.53974	T	0.13696	0.46963	T	-0.471057	0.00837	T	-0.44625	0.28112	T	0.0430017011710464	0.04238	T	0.928457	0.73631	D	0.26906165	0.49978	0.20060849	0.44001	0.26906165	0.49978	0.20060849	0.44000	-7.956	0.60769	D	.	.	0.088	0.11749	B	.	.	3.475407	0.48508	22.6	0.99862722385700942	0.94093	0.96968	0.71932	D	AEFDBI	0.621714	0.60630	D	0.587195090051373	0.72373	5.795754	0.545689340327891	0.71097	5.603354	0.999456575916888	0.39788	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	5.308000	0.65557	4.099000	0.41853	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	14.009	0.64000	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	2427.33	33	chr9	134034802	.	T	C	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=860;ExcessHet=0;FS=2.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.362;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1330	18	0	1	0
chr9	134421677	134421677	C	T	exonic	RXRA	.	nonsynonymous SNV	RXRA:NM_001291921:exon5:c.C491T:p.P164L,RXRA:NM_001291920:exon6:c.C701T:p.P234L,RXRA:NM_002957:exon6:c.C782T:p.P261L	.	427	1094	1	0	0	1	0.00045683	0.0139	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	.	.	0.00299521	0.0009	0	8.708e-05	0.0001	0	4.688e-05	0.0038	0.0095	0.0009767	151	154602	rs2234960	0.0005	0.0005	0.0003	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	3.065e-05	0	0	2.559e-05	0	0.0004	5.834e-05	0.0003	0.0074	0.0003	0.0003	0.0002	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0072	0.05	0.39575	D	0.116	0.36497	T	0.141	0.27581	B	0.014	0.16862	B	0.000356	0.45440	D	0.229986	1	0.81001	D	1.825	0.47900	L	0.71	0.51228	T	-3.61	0.69477	D	0.416	0.45615	-1.0159	0.25045	T	0.105	0.38562	T	10	0.009608179	0.00216	T	.	.	.	0.290	0.60924	0.104	0.01698	0.889384210098	0.88829	0.7269824113318207	0.72642	1.22001278957	0.81056	0.794239640236	0.81087	T	0.411849	0.76618	T	-0.227628	0.16963	T	-0.0944801	0.63821	T	0.171345764056065	0.18671	T	0.945105	0.79107	D	0.31944543	0.54593	0.20539339	0.44706	0.3289293	0.55383	0.23977481	0.49334	-10.457	0.76600	D	0.12133314221763428	0.11504	0.125	0.26263	B	.	.	4.191399	0.63170	24.5	0.96168104791119069	0.28920	0.94997	0.63064	D	AEFDGBHCI	0.937287	0.93485	D	-0.211744992828363	0.32652	1.84371	-0.0944927031133889	0.35618	2.062782	0.999999999997299	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.51	4.51	0.54589	7.548000	0.81103	7.424000	0.58739	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:1.0:0.0:0.0	17.258	0.86948	784	0.47045	Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2368.33	37	chr9	134421677	.	C	T	2368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=879;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.873;SOR=0.79	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr9	134730474	134730474	A	G	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon7:c.A1163G:p.N388S,COL5A1:NM_001278074:exon7:c.A1163G:p.N388S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	1	1520	1	0	0	1	0.000328839	0.9693	0.812	.	217343	Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.250143368876	7.7e-05	0.000199681	6.685e-05	9.976e-05	0	0.0002	0	6.098e-05	0	6.065e-05	5.82e-05	9	154602	rs150837465	4.857e-05	4.857e-05	5.31e-05	4.401e-05	8.961e-05	3.927e-05	3.605e-05	3.89e-05	3.49e-05	8.961e-05	2.236e-05	3.826e-05	7.557e-05	0	0	4.946e-05	8.279e-05	3.478e-05	5.258e-05	5.251e-05	5.143e-05	5.378e-05	0.0002	2.558e-05	1.83e-05	2.848e-05	1.859e-05	2.407e-05	0	6.538e-05	0	0.0002	0	0	7.355e-05	0	0	0.71	0.04044	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.643249	0.05880	U	1.215830	0.992939	0.23800	N	0.715	0.18665	N	-2.48	0.89071	D	-0.64	0.18670	N	0.255	0.31702	-0.6593	0.62307	T	0.535	0.82772	D	10	0.07849172	0.12515	T	0.250143	0.89080	D	0.270	0.58507	.	.	0.501711920363	0.49808	0.24519584380264753	0.24433	0.132666713148	0.14947	0.395354092121	0.24421	T	0.093578	0.39240	T	-0.327342	0.06314	T	-0.407657	0.32494	T	0.0596323385834694	0.07110	T	0.592541	0.22995	T	0.025860619	0.01572	0.032671988	0.02038	0.025860619	0.01571	0.032671988	0.02038	-1.258	0.01336	T	.	.	0.061	0.02173	B	.;.	.;.	2.181403	0.27809	17.59	0.39353552804981756	0.02710	0.88110	0.47896	D	AEFDGBI	0.321513	0.42429	N	-0.585353311197814	0.19388	1.014353	-0.496183914303258	0.22258	1.208102	0.99986483691079	0.44398	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.52	3.34	0.37357	2.453000	0.44627	4.855000	0.45413	0.756000	0.94297	0.039000	0.20931	0.935000	0.28640	0.002000	0.04165	0.9156:0.0:0.0843:0.0	9.890	0.40452	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	40	chr9	134730474	.	A	G	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.099;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.566;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1323	18	0	1	0
chr9	134812612	134812612	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon48:c.C3752T:p.P1251L,COL5A1:NM_001278074:exon48:c.C3752T:p.P1251L	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	2855105	Ehlers-Danlos_syndrome,_classic_type,_1	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.654	0.362875393208	.	.	2.674e-05	0	0	0	0	0	0.0018	8.13e-05	1.29e-05	2	154602	rs755735075	1.857e-05	1.984e-05	8.206e-06	2.907e-05	0.0002	1.272e-05	1.09e-05	0.0001	0.0001	0	2.307e-05	0	2.532e-05	0	0	5.416e-06	1.665e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.304e-05	3.034e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.13	0.26740	T	0.095	0.39799	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.305	0.65957	M	-4.09	0.96627	D	-7.5	0.95045	D	0.67	0.67822	1.071	0.98631	D	0.933	0.97802	D	10	0.8791025	0.87213	D	0.362875	0.92556	D	0.654	0.86986	0.324	0.30549	0.801228684253	0.79937	0.41151256553187743	0.41067	0.302089110353	0.32540	0.843083322048	0.88565	D	0.697275	0.91251	D	0.000441447	0.51716	T	0.0563447	0.74002	D	0.558084559789869	0.34783	D	0.943406	0.80045	D	0.32978743	0.55453	0.25372177	0.51025	0.32978743	0.55453	0.25372177	0.51024	-12.982	0.89289	D	0.6392461936081676	0.70971	0.459	0.62631	A	.;.	.;.	4.601334	0.72877	25.9	0.98695683897335706	0.44823	0.99075	0.90859	D	AEFDGBI	0.869509	0.79008	D	0.630626682580786	0.75119	6.250222	0.521934149206887	0.69470	5.36475	0.999999999999996	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.78367	0.99111	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	7.489000	0.80266	7.416000	0.58680	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.0:1.0:0.0:0.0	17.782	0.88436	836	0.38045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002523	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2414.33	35	chr9	134812612	.	C	T	2414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1099;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.663;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	18	0	1	0
chr9	134817038	134817038	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon53:c.C4135T:p.P1379S,COL5A1:NM_001278074:exon53:c.C4135T:p.P1379S	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1464	57	1	0	59	0.0197523	.	.	.	140593	Ehlers-Danlos_syndrome,_classic_type,_1|not_specified|Ehlers-Danlos_syndrome_type_7A|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_provided|Fibromuscular_dysplasia,_multifocal	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:CN169374|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.658	.	0.0073	0.00399361	0.0074	0.0010	0.0054	0	0.0060	0.0098	0.0099	0.0077	0.0072379	1119	154602	rs61739195	0.0079	0.0079	0.0077	0.0080	0.0295	0.0077	0.0077	0.0259	0.0245	0.0013	0.0050	0.0245	2.519e-05	0.0062	0.0295	0.0080	0.0079	0.0075	0.0060	0.0060	0.0063	0.0058	0.0088	0.0057	0.0056	0.0082	0.0080	0.0011	0	0.0037	0.0219	0	0.0069	0.0238	0.0088	0.0147	0.0062	0.006	0.61437	D	0.012	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	1.62	0.41497	L	-5.05	0.98611	D	-4.66	0.79482	D	0.577	0.61426	0.942	0.96269	D	0.939	0.97982	D	10	0.012166917	0.00262	T	.	.	.	0.658	0.87184	.	.	0.85845530583	0.85709	0.29242503868214725	0.29155	0.298742333184	0.32256	0.726237535477	0.70958	T	0.679392	0.90569	D	-0.207987	0.19665	T	-0.0598591	0.66342	T	0.0126543567457654	0.00212	T	0.892211	0.62852	D	0.37683263	0.59087	0.33475214	0.59297	0.38305777	0.59537	0.33015355	0.58887	-6.121	0.47281	T	0.6115994363276362	0.67924	0.556	0.67026	A	.;.	.;.	4.163591	0.62549	24.5	0.9968018547958577	0.79174	0.98929	0.88765	D	AEFBI	0.759279	0.69766	D	0.666279241900824	0.77424	6.672384	0.641604356597949	0.77986	6.786372	0.999999999999493	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.850000	0.62587	4.778000	0.44817	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	16.795	0.85462	827	0.39843	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021652	0.000000	0.023098	0.032164	0.000000	0.034483	0.030488	0.007576	0.02632	1568.33	98	chr9	134817038	.	C	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=1421;ExcessHet=0;FS=4.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.5;SOR=0.419	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	18	0	1	0
chr9	134835104	134835104	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon65:c.C5270T:p.T1757M,COL5A1:NM_001278074:exon65:c.C5270T:p.T1757M	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1494	28	0	0	28	0.00928382	.	.	.	140617	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_1|Fibromuscular_dysplasia,_multifocal|not_specified|not_provided|Ehlers-Danlos_syndrome	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.451	.	0.0014	0.0269569	0.0121	0.0009	0.0116	0.0882	0.0005	0.0019	0.0103	0.0249	0.0112806	1744	154602	rs2229817	0.0049	0.0049	0.0044	0.0053	0.0795	0.0048	0.0047	0.0772	0.0762	0.0006	0.0086	0.0148	0.0795	0.0003	0.0040	0.0006	0.0097	0.0220	0.0050	0.0051	0.0044	0.0057	0.0917	0.0047	0.0046	0.0849	0.0822	0.0008	0	0.0026	0.0127	0.0917	0.0002	0	0.0009	0.0057	0.0211	0.008	0.58626	D	0.044	0.49942	D	0.995	0.67487	D	0.778	0.57212	P	0.007178	0.31557	U	0.261183	0.882265	0.28028	N	2.655	0.77738	M	-0.85	0.74371	T	-2.2	0.49519	N	0.185	0.31365	-0.6790	0.61419	T	0.058	0.24317	T	10	0.0027009249	0.00042	T	.	.	.	0.451	0.75143	.	.	.	.	0.4858146501938287	0.48501	0.306892659518	0.32992	0.561442613602	0.47472	T	0.572343	0.85861	D	-0.380576	0.03090	T	-0.243791	0.50428	T	0.012884577986513	0.00221	T	0.918208	0.70605	D	0.31913874	0.54567	0.35206926	0.60791	0.3935818	0.60285	0.28474456	0.54473	-8.279	0.62955	D	0.26940633294760913	0.36267	0.091	0.19357	B	.;.	.;.	4.405581	0.68111	25.2	0.99758358737992425	0.84851	0.84546	0.43629	D	AEFDGBI	0.236355	0.35881	N	0.637509601434317	0.75562	6.328087	0.588344727769782	0.74101	6.080413	0.999899576348115	0.45129	0.67177	0.52595	0	0.659464	0.62310	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	2.331000	0.43552	3.899000	0.40339	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.965000	0.52897	0.0:1.0:0.0:0.0	18.364	0.90328	805	0.43675	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.000000	0.008772	0.000000	0.000000	0.018293	0.018939	0.02632	1895.33	33	chr9	134835104	.	C	T	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=894;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.786;SOR=0.74	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1581	18	0	1	0
chr9	134909811	134909811	A	G	exonic	FCN1	.	nonsynonymous SNV	FCN1:NM_002003:exon9:c.T968C:p.V323A	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.086798882285	.	0.000599042	0.0008	0	8.643e-05	0	0	7.505e-05	0.0022	0.0054	0.0006533	101	154602	rs535025459	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	4.472e-05	0	2.519e-05	3.765e-05	0.0010	4.137e-05	0.0003	0.0060	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0.0068	1.472e-05	0	0.0060	0.028	0.46129	D	0.009	0.66756	D	0.122	0.26746	B	0.333	0.42166	B	.	.	.	.	0.971064	0.25672	N	2.935	0.84639	M	-1.14	0.77843	T	-1.83	0.42957	N	0.193	0.21188	-0.1313	0.79371	T	0.571	0.84499	D	9	0.014410198	0.00303	T	0.086799	0.74809	D	0.411	0.72252	0.639	0.77579	0.940830667215	0.94021	0.8327264117121216	0.83231	0.289302345327	0.31336	0.33172878623	0.15195	T	0.146522	0.48417	T	-0.322926	0.06661	T	-0.235133	0.51273	T	0.148833841159432	0.17009	T	0.746525	0.36724	T	0.5365262	0.69202	0.35496795	0.61032	0.5365262	0.69203	0.35496795	0.61032	-8.015	0.61172	D	.	.	0.414	0.60351	A	.	.	2.615087	0.33970	19.50	0.99477075654967506	0.66687	0.66484	0.33094	D	AEFDGBI	0.532513	0.55235	D	-0.0496787373863153	0.39617	2.339172	-0.125315793070129	0.34372	1.976454	0.999999955492462	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.356000	0.59205	2.689000	0.34074	0.743000	0.86499	0.181000	0.24076	0.065000	0.22112	0.139000	0.19909	1.0:0.0:0.0:0.0	9.740	0.39580	726	0.54788	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2102.33	80	chr9	134909811	.	A	G	2102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.991;DP=1584;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.797;SOR=0.763	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	18	0	1	0
chr9	135495592	135495592	A	T	exonic	C9orf116	.	nonsynonymous SNV	C9orf116:NM_001048265:exon3:c.T246A:p.N82K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0141209174668	.	.	1.657e-05	0	0	0	0	1.508e-05	0.0011	0	1.29e-05	2	154602	rs776324340	4.105e-06	4.788e-06	5.446e-06	2.751e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.249	0.23776	T	0.231	0.30614	B	0.04	0.23831	B	0.000424	0.00601	N	3.323010	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.75	0.21003	N	0.14	0.13911	-1.0797	0.07407	T	0.083	0.32499	T	9	0.082169145	0.13532	T	0.014121	0.34021	T	0.036	0.09122	0.382	0.39970	0.0716867268079	0.06686	0.41144887449748463	0.41060	0.299534860611	0.32320	.	.	.	0.021861	0.16951	T	-0.254219	0.13586	T	-0.587458	0.13886	T	0.0501796008120239	0.05532	T	0.549445	0.18903	T	0.076457284	0.17292	0.055549204	0.09765	0.076457284	0.17291	0.055549204	0.09764	-3.707	0.19422	T	.	.	0.217	0.44720	B	.	.	1.439944	0.18595	13.82	0.84507686418091021	0.15332	0.08825	0.14696	N	AEGBI	.	.	.	-0.830316885973107	0.12539	0.611877	-0.87726832504793	0.12634	0.6509979	0.997005698492237	0.35191	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.03	-0.314	0.12117	0.397000	0.20608	0.015000	0.13501	0.735000	0.85950	0.000000	0.06391	0.000000	0.08366	0.799000	0.37691	0.4782:0.1578:0.364:0.0	5.178	0.14469	467	0.78285	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1321.33	34	chr9	135495592	.	A	T	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=711;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=-0.76;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1273	18	0	1	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M,SOHLH1:NM_001101677:exon7:c.C916A:p.L306M	.	418	1076	28	0	0	28	0.012844	.	.	.	700885	not_specified|not_provided|SOHLH1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005040	0.000000	0.005450	0.002924	0.000000	0.000000	0.003067	0.007576	0.02632	890.33	145	chr9	135694417	.	G	T	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.177;DP=1919;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.744;SOR=0.789	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	18	0	1	0
chr9	135772926	135772926	C	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon18:c.C2085G:p.D695E,KCNT1:NM_020822:exon19:c.C2220G:p.D740E	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1496	16	1	0	18	0.00598007	.	.	.	459244	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|KCNT1-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.023329306857	0.0002	0.000599042	0.0016	0	0	0	0	0.0008	0	0.0065	0.0004981	77	154602	rs148162797	0.0003	0.0004	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0036	3.243e-05	0.0003	0.0003	0	0.0002	0.0024	7.682e-05	0.0005	0.0042	0.0003	0.0003	0.0001	0.0005	0.0046	0.0002	0.0002	0.0031	0.0026	4.811e-05	0	0.0005	0	0	0	0.0034	0.0001	0.0024	0.0046	0.724	0.40832	T	0.502	0.11829	T	0.003	0.11197	B	0.006	0.12133	B	0.000235	0.47286	N	0.176448	0.908684	0.36354	D	1.54	0.38927	L	-1.24	0.86888	T	-0.88	0.41618	N	0.27	0.35727	-1.0035	0.28903	T	0.264	0.63544	T	10	0.0068859756	0.00156	T	0.023329	0.46285	T	0.216	0.50959	0.406	0.43902	0.664427534658	0.66160	0.4032890132786649	0.40244	0.594975163302	0.54791	0.587972760201	0.51208	T	0.042691	0.26264	T	-0.514753	0.00472	T	-0.51334	0.20973	T	0.0119421629226858	0.00187	T	0.716128	0.32863	T	0.033071313	0.03453	0.033321716	0.02208	0.032592442	0.03313	0.03737962	0.03379	-4.765	0.36259	T	0.13312122002931834	0.14257	0.102	0.22208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.868754	0.00135	0.002	0.47387542583681591	0.03870	0.08586	0.14495	N	AEFDGBI	0.161338	0.28738	N	-1.58990081410054	0.01316	0.05729786	-1.77444655472272	0.00845	0.03773171	0.984980942395563	0.30807	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.88	-7.76	0.01094	-4.495000	0.00259	-13.526000	0.00453	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.323:0.2758:0.4011	6.839	0.23135	546	0.72524	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001540	0.000000	0.001366	0.002959	0.000000	0.000000	0.003145	0.003817	0.02632	1351.33	35	chr9	135772926	.	C	G	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=786;ExcessHet=0;FS=5.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=1.52;SOR=1.197	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1193	18	0	1	0
chr9	135778444	135778444	A	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon21:c.A2408G:p.E803G,KCNT1:NM_020822:exon22:c.A2543G:p.E848G	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1508	5	0	0	5	0.00165508	.	.	.	134804	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.783	0.523026545111	0.0022	0.00119808	0.0016	0.0004	0.0024	0	0	0.0028	0	0.0008	0.0011643	180	154602	rs149804567	0.0030	0.0029	0.0031	0.0029	0.0077	0.0029	0.0029	0.0059	0.0053	0.0006	0.0041	0.0002	0	0.0008	0.0077	0.0034	0.0031	0.0008	0.0023	0.0023	0.0022	0.0024	0.0044	0.0021	0.0020	0.0036	0.0033	0.0006	0.0011	0.0044	0.0003	0	0.0010	0.0102	0.0035	0.0024	0.0010	0.001	0.78490	D	0.006	0.70582	D	0.864	0.47514	P	0.437	0.45591	B	0.000000	0.84330	U	0.000000	1	0.81001	D	2.255	0.64187	M	-1.17	0.78199	T	-6.34	0.90937	D	0.694	0.70351	0.067	0.83563	D	0.457	0.78877	T	10	0.021965742	0.00537	T	0.523027	0.95475	D	0.783	0.92787	.	.	0.862925295636	0.86159	0.9382602385644435	0.93807	1.09044902696	0.77412	0.687397241592	0.65332	T	0.310908	0.68283	T	0.0329264	0.56114	T	0.276439	0.86929	D	0.0289352975995204	0.01827	T	0.958604	0.84374	D	0.48417372	0.66153	0.6271475	0.78261	0.6860348	0.77297	0.65704966	0.79918	-9.882	0.73732	D	0.6600228610296959	0.73337	0.660	0.74697	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.873173	0.79859	27.2	0.9991844980658271	0.98586	0.97451	0.74834	D	AEFDBI	0.904012	0.85379	D	0.576795481824302	0.71729	5.69525	0.557929126426649	0.71950	5.733673	0.999998898392798	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	9.003000	0.93114	9.087000	0.78733	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.162	0.64988	539	0.73055	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008065	0.021505	0.005848	0.009317	0.000000	0.027778	0.000000	0.003937	0.02632	817.33	35	chr9	135778444	.	A	G	817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.404;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.141;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1143	18	0	1	0
chr9	135786258	135786258	G	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3104T:p.G1035V,KCNT1:NM_020822:exon29:c.G3239T:p.G1080V	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	10	1509	3	0	0	3	0.000993049	.	.	.	370704	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|Inborn_genetic_diseases|not_provided|not_specified|KCNT1-related_disorder	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	0.206949269012	0.0016	0.000199681	0.0022	0.0005	0.0001	0	0.0002	0.0034	0.0015	0.0016	0.0017464	270	154602	rs200250181	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0029	0.0004	0.0003	0.0033	0	0.0005	0.0012	0.0031	0.0019	0.0016	0.0015	0.0015	0.0018	0.0013	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0007	0.0040	0	0.0008	0	0.0025	0.0009	0.0004	0.01	0.56456	D	0.327	0.21343	T	.	.	.	.	.	.	0.182232	0.17071	U	0.622383	0.999507	0.22137	N	1.245	0.31408	L	1.82	0.25018	T	-2.47	0.53898	N	0.199	0.35620	-1.0188	0.24106	T	0.023	0.09741	T	10	0.0059975684	0.00135	T	0.206949	0.87067	D	0.045	0.12272	.	.	0.345632371893	0.34166	0.4864247483336566	0.48562	0.111451014864	0.12582	0.438605725765	0.30387	T	0.058305	0.30805	T	-0.431135	0.01459	T	-0.394493	0.34026	T	0.0311117385439214	0.02164	T	0.906109	0.66926	D	0.11251886	0.26582	0.15248744	0.35874	0.21999258	0.44544	0.12053789	0.29088	-5.665	0.44092	T	0.10455608797968416	0.08193	0.081	0.15654	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.984852	0.25217	16.68	0.60217766006453999	0.06410	0.72078	0.35294	D	AEFDBHI	0.397806	0.47373	N	-0.923426679543321	0.10295	0.4913135	-0.885766601434569	0.12430	0.6393792	0.492484821845352	0.20875	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.85	0.834	0.18015	1.551000	0.35841	3.314000	0.37488	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.005000	0.06747	0.2422:0.1506:0.4665:0.1407	1.633	0.02571	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	882.33	33	chr9	135786258	.	G	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.097;SOR=0.763	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1308	18	0	1	0
chr9	135938340	135938340	G	T	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon9:c.C984A:p.D328E	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0188026661095	.	0.000599042	0.0004	0	8.682e-05	0	0	6.06e-05	0	0.0029	0.0003687	57	154602	rs372577322	0.0002	0.0002	0.0001	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	5.974e-05	0	0	0	0	0.0019	7.464e-05	0.0004	0.0028	0.0001	0.0001	5.139e-05	0.0002	0.0031	9.145e-05	7.701e-05	0.0019	0.0015	0	0	0	0	0	0	0	7.352e-05	0.0005	0.0031	0.51	0.07497	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.98	0.24916	L	1.86	0.24285	T	-1.33	0.33197	N	0.448	0.48596	-1.1002	0.04067	T	0.069	0.28080	T	10	0.01339221	0.00284	T	0.018803	0.40979	T	0.198	0.48105	0.246	0.18139	0.382275360157	0.37844	0.4832373460098827	0.48243	0.714520733778	0.61891	0.57425069809	0.49277	T	0.022193	0.17150	T	-0.304245	0.08265	T	-0.213482	0.53362	T	0.0809856030870634	0.10113	T	0.816518	0.47234	T	0.10508884	0.24844	0.11774421	0.28423	0.10508884	0.24844	0.11774421	0.28422	-6.108	0.47174	T	.	.	0.274	0.50772	B	.	.	3.643930	0.51686	23.1	0.9946591020491321	0.66049	0.98458	0.82987	D	AEFGBCI	0.707262	0.66205	D	0.361597419662683	0.59354	4.114163	0.400575010362586	0.61601	4.362487	0.99999440237496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	3.89	0.44098	5.398000	0.66053	4.897000	0.45822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0873:0.0:0.9127:0.0	11.506	0.49718	769	0.49307	Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1693.33	36	chr9	135938340	.	G	T	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=772;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-2.21;SOR=0.783	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009635	0.005208	0.005435	0.017544	0.000000	0.026316	0.021605	0.007576	0.02632	2034.33	39	chr9	136011887	.	T	C	2034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=864;ExcessHet=0;FS=6.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=1.04;SOR=0.352	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	136254423	136254423	G	C	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.C5405G:p.A1802G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.08e-05	6.156e-06	1.115e-05	1.04e-05	0.0019	5.08e-06	3.68e-06	0.0005	0.0003	0	0	0	0	0	0.0019	6.562e-06	3.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12058988	0.22844	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344066	0.07525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.	.	0.467681	0.08376	5.126	0.44869433729707203	0.03481	0.04071	0.09525	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999960528567	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.065574	0.01856	0	0.079188	0.02158	0	0.0722778	0.16942	2.33	-2.65	0.05739	-0.012000	0.12637	-0.125000	0.11680	-0.491000	0.05044	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4873:0.2296:0.2831:0.0	3.519	0.07292	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	73.64	.	chr9	136254423	.	G	C	73.64	.	AC=2;AF=0.083;AN=24;DP=33;ExcessHet=0;FS=0;InbreedingCoeff=0.353;MLEAC=2;MLEAF=0.083;MQ=60;QD=24.55;SOR=1.179	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	1	0	7
chr9	136286646	136286646	G	T	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001291516:exon8:c.C1978A:p.P660T,CCDC187:NM_001378188:exon8:c.C2272A:p.P758T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.056e-06	1.272e-05	0	8.002e-06	0.0008	0	0	.	.	0	0	0	0	0	0.0008	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.05229	T	1.0	0.02496	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.04947	N	0.058	0.03392	.	.	.	.	.	.	.	0.040827066	0.02685	T	.	.	.	.	.	.	.	.	.	0.008967862894919874	0.00859	.	.	.	.	.	0.006646	0.06077	T	.	.	.	.	.	.	.	.	.	0.351465	0.07848	T	.	.	.	.	.	.	.	.	-3.565	0.18685	T	.	.	0.062	0.01348	B	.;.;.	.;.;.	-1.303941	0.00435	0.009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.744000	0.01931	-1.399000	0.05531	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	618.33	54	chr9	136286646	.	G	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.356;DP=802;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-1.05;SOR=0.468	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr9	136290673	136290673	G	A	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001291516:exon6:c.C1646T:p.A549V,CCDC187:NM_001378188:exon6:c.C1940T:p.A647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055911967	5.28e-05	2.863e-05	7.413e-05	3.204e-05	0.0003	3.042e-05	2.466e-05	4.887e-05	2.011e-05	0.0003	0	0	4.369e-05	0	0	4.43e-05	0.0002	0	9.849e-05	9.843e-05	0.0001	9.402e-05	0.0002	6.002e-05	4.876e-05	7.872e-05	5.575e-05	0.0002	0	6.533e-05	0	0	0	0	0.0001	0	0	0.235	0.18000	T	0.198	0.28575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.24	0.31375	N	0.065	0.03956	.	.	.	.	.	.	.	0.07984996	0.12892	T	.	.	.	.	.	.	.	.	.	0.024849666436626127	0.02435	.	.	.	.	.	0.020624	0.16203	T	.	.	.	.	.	.	.	.	.	0.607939	0.22935	T	.	.	.	.	.	.	.	.	-10.281	0.75846	D	.	.	0.174	0.42650	B	.;.;.	.;.;.	1.292621	0.16934	12.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269000	0.18354	2.254000	0.31710	-0.129000	0.13216	0.000000	0.06391	0.037000	0.21475	0.008000	0.08271	.	.	.	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2325.33	154	chr9	136290673	.	G	A	2325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=797;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.397;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	18	0	1	0
chr9	136362125	136362125	C	T	exonic	DNLZ	.	nonsynonymous SNV	DNLZ:NM_001080849:exon3:c.G424A:p.E142K	.	398	1112	11	1	0	13	0.00581135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0089	0.00219649	0.0070	0.0011	0.0026	0.0004	0.0041	0.0111	0.0049	0.0020	0.0067787	1048	154602	rs147703592	0.0090	0.0088	0.0091	0.0090	0.0104	0.0089	0.0088	0.0102	0.0102	0.0014	0.0039	0.0115	6.223e-05	0.0034	0.0066	0.0104	0.0080	0.0015	0.0079	0.0079	0.0084	0.0073	0.0132	0.0075	0.0073	0.0124	0.0122	0.0017	0.0220	0.0060	0.0164	0.0002	0.0037	0.0034	0.0132	0.0062	0.0014	0.069	0.35537	T	0.014	0.62352	D	0.138	0.27452	B	0.016	0.17743	B	0.083002	0.20777	U	0.511140	0.999999	0.08975	N	1.935	0.51832	L	1.36	0.34452	T	-2.59	0.55821	D	0.151	0.15469	-0.9419	0.42314	T	0.098	0.36625	T	10	0.00526312	0.00115	T	.	.	.	0.048	0.13305	.	.	0.136095386433	0.13204	0.3975602629419287	0.39671	0.22972423591	0.25525	0.470153927803	0.34701	T	0.077581	0.35688	T	-0.568007	0.00228	T	-0.57176	0.15288	T	0.0197675809484633	0.00678	T	0.840116	0.51512	T	0.1358145	0.31506	0.1271534	0.30614	0.1358145	0.31506	0.1271534	0.30613	-8.493	0.64383	D	.	.	0.117	0.23675	B	.	.	2.036393	0.25880	16.92	0.99695929006381323	0.80248	0.25870	0.22827	N	AEFGBCI	0.175292	0.30246	N	-0.506304372857282	0.21875	1.164149	-0.614733758531994	0.19114	1.024147	0.999990770488363	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.15	2.29	0.27658	2.359000	0.43797	1.294000	0.25431	0.549000	0.26987	0.775000	0.29414	0.876000	0.27648	0.220000	0.22462	0.0:0.8178:0.0:0.1822	9.571	0.38591	895	0.25842	Zinc finger, DNL-type	.	.	PMPCA	Adipose_Visceral_Omentum	rs147703592	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.015306	0.005435	0.005848	0.000000	0.017241	0.009146	0.007576	0.05263	728.83	16	chr9	136362125	.	C	T	728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.75;DP=591;ExcessHet=0.119;FS=2.027;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.326;SOR=1.031	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	17	0	2	0
chr9	136363706	136363706	-	CGCAGCAACCTCGGCGCGCCGCGCAGCGCAGTT	exonic	DNLZ	.	nonframeshift insertion	DNLZ:NM_001080849:exon1:c.8_9insAACTGCGCTGCGCGGCGCGCCGAGGTTGCTGCG:p.L13_S14insRTALRGAPRLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.522e-06	4.729e-06	6.942e-06	1.169e-05	1.507e-05	2.53e-06	7e-07	4.01e-06	2.11e-06	0	0	0	0	0	0	1.507e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	137.34	9	chr9	136363706	.	C	CCGCAGCAACCTCGGCGCGCCGCGCAGCGCAGTT	137.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=218;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.464;SOR=2.712	GT:AD:DP:GQ:PL	0/0:8,0:8:21:0,21,315	18	0	1	0
chr9	136407264	136407264	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon3:c.G481C:p.D161H,ENTR1:NM_006643:exon4:c.G631C:p.D211H,ENTR1:NM_001039707:exon5:c.G700C:p.D234H	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.012446890627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs932579216	2.054e-06	2.052e-06	1.362e-06	2.752e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.046	0.50226	D	0.987	0.61912	D	0.853	0.60815	P	0.105540	0.19654	N	0.547984	0.998612	0.22036	N	.	.	.	2.14	0.39990	T	-3.26	0.78891	D	0.384	0.46086	-0.9752	0.36082	T	0.154	0.48378	T	10	0.15341121	0.28958	T	0.012447	0.31033	T	0.056	0.15993	0.326	0.30873	0.548611889291	0.54518	0.23439374797238732	0.23354	0.109377941776	0.12337	0.574790835381	0.49354	T	0.091235	0.45556	T	-0.164267	0.26105	T	-0.473735	0.25114	T	0.877457618713379	0.52736	D	0.852015	0.53695	D	0.10433186	0.24663	0.15849507	0.37010	0.10433186	0.24663	0.15849507	0.37009	-4.045	0.24624	T	.	.	0.173	0.48303	B	.;.;.;.	.;.;.;.	3.636138	0.51531	23.1	0.99369988421502775	0.61411	0.08263	0.14215	N	AEFGBI	0.087834	0.17809	N	0.0441985649452429	0.43876	2.672078	-0.0664186382870818	0.36788	2.145447	0.999982518813961	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	3.55	0.39770	1.680000	0.37224	3.321000	0.37545	0.599000	0.40250	0.266000	0.25007	0.998000	0.33993	0.547000	0.30103	0.3155:0.601:0.0:0.0835	6.631	0.22049	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1562.33	69	chr9	136407264	.	C	G	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1032;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-2.232;SOR=0.64	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr9	136451383	136451383	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon22:c.C6185T:p.S2062L,SEC16A:NM_014866:exon23:c.C6185T:p.S2062L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0181188467307	.	0.000399361	0.0003	0	0	0.0002	0	0	0	0.0019	0.000207	32	154602	rs190567329	8.84e-05	8.893e-05	5.592e-05	0.0001	0.0013	7.568e-05	7.113e-05	0.0011	0.0010	0	0	0	0	0	0	1.35e-05	4.979e-05	0.0013	3.938e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.128e-05	7.293e-05	3.03e-05	2.404e-05	0	6.534e-05	0	0.0004	0	0	0	0	0.0004	0.243	0.19569	T	0.091	0.42086	T	0.147	0.27870	B	0.019	0.18783	B	0.347946	0.13861	N	0.714168	1	0.08975	N	.	.	.	1.56	0.51714	T	-2.22	0.59059	N	0.111	0.16447	-1.0431	0.16383	T	0.083	0.32440	T	10	0.0091893375	0.00208	T	0.018119	0.40075	T	0.068	0.19811	.	.	0.0934897674506	0.08844	0.38865168435037334	0.38780	0.0591755686148	0.06573	0.382856816053	0.22661	T	0.025086	0.31211	T	-0.5126	0.00485	T	-0.544469	0.17861	T	0.0231931382225924	0.01046	T	0.707329	0.31793	T	0.03239696	0.03256	0.039898224	0.04190	0.03239696	0.03256	0.039898224	0.04190	-3.354	0.14444	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	0.920727	0.12954	9.463	0.97241633314393539	0.32996	0.07009	0.13035	N	AEFGBI	0.045960	0.07577	N	-0.924382263992677	0.10274	0.4901634	-0.991635452112335	0.09972	0.4993653	0.217365891334579	0.18314	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.77	0.996	0.18963	0.131000	0.15696	4.767000	0.44750	0.676000	0.76740	0.000000	0.06391	0.860000	0.27479	0.001000	0.02609	0.2655:0.0:0.7345:0.0	6.587	0.21819	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	25	chr9	136451383	.	G	A	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=656;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.453;SOR=1.204	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1168	18	0	1	0
chr9	136459504	136459504	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon15:c.C5243T:p.A1748V,SEC16A:NM_014866:exon16:c.C5243T:p.A1748V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0086202225745	.	.	4.657e-05	0.0002	0	0	0	2.89e-05	0	9.276e-05	1.94e-05	3	154602	rs774634391	2.268e-05	3.01e-05	2.459e-05	2.075e-05	3.53e-05	1.618e-05	1.423e-05	1.632e-05	1.386e-05	2.998e-05	0	0	2.532e-05	0	0	2.345e-05	3.326e-05	3.53e-05	1.314e-05	1.314e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.003814	0.34463	N	0.308951	0.992632	0.23850	N	.	.	.	2.12	0.40218	T	3.46	0.00167	N	0.273	0.32370	-0.9847	0.33903	T	0.034	0.14639	T	10	0.02700591	0.00855	T	0.00862	0.22779	T	0.081	0.23632	0.365	0.37199	0.043077524339	0.03247	0.36130385586486186	0.36044	0.0648354089335	0.07235	0.460502594709	0.33379	T	0.040032	0.25393	T	-0.258526	0.13073	T	-0.609131	0.12055	T	0.0475422069430351	0.05062	T	0.683132	0.33531	T	0.013631635	0.00065	0.034023393	0.02396	0.013631635	0.00065	0.034023393	0.02396	2.655	0.00029	T	.	.	0.049	0.00199	B	.;.;.;.;.;.	.;.;.;.;.;.	2.129594	0.27108	17.35	0.35026403759939673	0.02175	0.50711	0.28726	D	AEFDGBI	0.025631	0.01789	N	-0.880930855372942	0.11297	0.5444183	-0.668453094902106	0.17752	0.9452907	0.980791000357774	0.30177	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.36	0.37579	5.878000	0.69429	3.496000	0.38747	-0.065000	0.16512	1.000000	0.71638	0.990000	0.31317	0.956000	0.50813	0.8299:0.0:0.1701:0.0	8.467	0.32123	952	0.10565	Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;Ancestral coatomer element 1, Sec16/Sec31;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2003.33	35	chr9	136459504	.	G	A	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.294;DP=766;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=2.06;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1080	18	0	1	0
chr9	136474351	136474351	C	T	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.G3265A:p.A1089T,SEC16A:NM_014866:exon3:c.G3265A:p.A1089T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00593721547279	.	0.000199681	9.104e-05	0.0011	0	0	0	0	0	6.428e-05	7.12e-05	11	154602	rs537040519	3.63e-05	3.694e-05	4.224e-05	3.029e-05	0.0010	2.831e-05	2.568e-05	0.0008	0.0007	0.0010	2.241e-05	0	0.0002	0	0	6.297e-06	1.657e-05	3.481e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.692	0.05881	T	0.475	0.14679	T	0.001	0.07471	B	0.001	0.04355	B	0.106164	0.02594	N	1.736900	1	0.08975	N	.	.	.	1.96	0.22270	T	0.1	0.07590	N	0.086	0.06322	-1.0026	0.29168	T	0.026	0.11309	T	10	0.008818448	0.00200	T	0.005937	0.15490	T	0.016	0.02506	.	.	0.102598925029	0.09809	0.13509928764366666	0.13433	0.0641610620683	0.07151	0.248686224222	0.03630	T	0.005644	0.05090	T	-0.654816	0.00068	T	-0.796406	0.01994	T	0.00408745398943783	0.00043	T	0.574243	0.20591	T	0.019270057	0.00455	0.03725771	0.03340	0.019270057	0.00455	0.03725771	0.03339	-4.707	0.33489	T	.	.	0.073	0.07177	B	.;.;.;.	.;.;.;.	0.545532	0.09141	5.924	0.83987802189400251	0.15033	0.24766	0.22494	N	AEFGBHCI	0.049508	0.08561	N	-1.27655754530581	0.03959	0.1778364	-1.21415060799278	0.05682	0.2714077	0.999998215510043	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	1.14	0.19817	-0.039000	0.12076	0.127000	0.14995	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.6951:0.0:0.3049	9.748	0.39626	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3560.33	33	chr9	136474351	.	C	T	3560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.519;DP=1029;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.97;SOR=0.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	18	0	1	0
chr9	136475554	136475554	T	G	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.A2062C:p.M688L,SEC16A:NM_014866:exon3:c.A2062C:p.M688L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00336226979143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.129203	0.02794	N	1.805300	1	0.08975	N	.	.	.	2.1	0.19990	T	-0.2	0.10656	N	0.099	0.12770	-1.0115	0.26447	T	0.018	0.07376	T	10	0.028270632	0.00961	T	0.003362	0.07512	T	0.009	0.00846	0.144	0.04746	0.110392049598	0.10638	0.04749892813153255	0.04692	0.0611846074872	0.06807	0.296141773462	0.09827	T	0.003315	0.02718	T	-0.403136	0.02208	T	-0.816853	0.01517	T	0.014767016246218	0.00309	T	0.364964	0.08742	T	0.031880695	0.03110	0.036574483	0.03131	0.031880695	0.03110	0.036574483	0.03131	-1.107	0.01126	T	.	.	0.092	0.14933	B	.;.;.;.	.;.;.;.	-1.284765	0.00451	0.009	0.26816328323083422	0.01302	0.11462	0.16650	N	AEFDGBHCI	0.041978	0.06454	N	-2.14419032524115	0.00102	0.004372314	-2.20730124181141	0.00108	0.004740003	0.999999999993389	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.698000	0.02009	-1.749000	0.04797	-1.808000	0.00615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0793:0.0988:0.3215:0.5004	5.966	0.18561	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1240.33	33	chr9	136475554	.	T	G	1240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=1122;ExcessHet=0;FS=1.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.531;SOR=0.61	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr9	136507350	136507350	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon22:c.G3598A:p.D1200N	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	138667	not_provided|Adams-Oliver_syndrome_5|not_specified	MedGen:C3661900|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.614	0.155065017778	.	0.000199681	0.0001	0	0	0	0	1.574e-05	0	0.0009	0.00011	17	154602	rs544640305	4.382e-05	4.378e-05	1.771e-05	7.019e-05	0.0009	3.512e-05	3.196e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0.0009	3.597e-06	9.939e-05	0.0006	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.052	0.39097	T	0.079	0.42086	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.21	0.30464	L	-2.17	0.86624	D	-4.29	0.76414	D	0.829	0.82458	0.275	0.87150	D	0.714	0.90185	D	10	0.7822559	0.77951	D	0.155065	0.83607	D	0.614	0.84932	0.785	0.90844	0.805439251494	0.80362	.	.	1.15897877142	0.79417	0.718930542469	0.69890	T	0.811943	0.95310	D	-0.268137	0.11966	T	-0.265453	0.48278	T	0.704302489757538	0.40924	D	0.961904	0.85651	D	0.33552966	0.55921	0.33732933	0.59524	0.33552966	0.55921	0.33732933	0.59524	-1.461	0.01686	T	.	.	.	.	.	.	.	5.250451	0.88155	29.5	0.99923061938042479	0.98917	0.99820	0.99675	D	AEFDGBI	0.851892	0.76877	D	0.619427248999268	0.74405	6.127056	0.622946257625457	0.76609	6.522836	0.999999999999975	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	7.475000	0.80038	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	18.205	0.89787	934	0.15400	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1073.33	39	chr9	136507350	.	C	T	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.443;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	18	0	1	0
chr9	136523809	136523809	T	C	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon3:c.A311G:p.N104S	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	138681	not_provided|Adams-Oliver_syndrome_5|Connective_tissue_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_valve_disease_1|NOTCH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0446776760751	0.0004	0.000199681	0.0009	0	0	0	0	0.0009	0	0.0029	0.0007633	118	154602	rs199654211	0.0007	0.0007	0.0006	0.0008	0.0032	0.0006	0.0006	0.0029	0.0028	8.964e-05	4.487e-05	0.0149	2.522e-05	1.927e-05	0.0016	0.0002	0.0015	0.0032	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	9.627e-05	0	0.0001	0.0150	0	0	0	0.0003	0.0009	0.0019	0.231	0.18246	T	0.426	0.13872	T	0.005	0.12996	B	0.012	0.16012	B	0.000034	0.55875	D	0.152375	0.99998	0.54805	D	0.82	0.20857	L	1.26	0.36330	T	-2.28	0.50830	N	0.369	0.41063	-1.0593	0.11931	T	0.094	0.35578	T	10	0.007729143	0.00175	T	0.044678	0.61607	D	0.124	0.34239	.	.	0.428935479497	0.42510	.	.	0.304690156816	0.32778	0.555113077164	0.46577	T	0.656565	0.89641	D	-0.563914	0.00240	T	-0.586478	0.13973	T	0.0161963127215673	0.00394	T	0.739226	0.35772	T	0.07380316	0.16517	0.08868967	0.20694	0.07380316	0.16517	0.08868967	0.20693	-5.197	0.38911	T	.	.	.	.	.	.	.	2.785930	0.36605	20.3	0.84092249092427873	0.15092	0.96159	0.67803	D	AEFDGBI	0.310088	0.41620	N	-0.430112924229125	0.24420	1.318389	-0.40820942552175	0.24755	1.357456	0.999999842382494	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.91	3.74	0.42108	3.279000	0.51374	4.840000	0.45276	0.661000	0.55757	0.993000	0.37899	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.1579:0.8421	10.919	0.46363	952	0.10565	EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001520	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.011450	0.02632	1755.33	35	chr9	136523809	.	T	C	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=789;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.633;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1427:.	18	0	1	0
chr9	136855620	136855620	G	A	splicing	MAMDC4	NM_206920:exon12:c.1471+1G>A	.	.	.	409	1096	16	1	0	18	0.0081448	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0032	0	0.0032	0	0.0039	0.0013	0.0079	0.0097	0.0012807	198	154602	rs201767253	0.0013	0.0013	0.0011	0.0015	0.0097	0.0013	0.0013	0.0092	0.0089	0.0002	0.0009	3.964e-05	0	0.0008	0.0032	0.0009	0.0012	0.0097	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.195735	0.21422	T	-0.0473975	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.632080	0.92682	32	0.99225599677801968	0.56057	0.89614	0.50191	D	AEFBHCI	.	.	.	0.924474549469722	0.92907	11.70093	0.722570702545955	0.84095	8.196856	0.999942106450456	0.47345	0.092769	0.02424	0	0.130567	0.03505	0	0.068591	0.01938	0	0.083433	0.02327	0	0.963142	0.66986	4.76	4.76	0.60189	4.889000	0.62862	11.250000	0.90713	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.499	0.67289	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1174.33	39	chr9	136855620	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.403;DP=792;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-1;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	18	0	1	0
chr9	136859064	136859064	G	A	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon24:c.G3016A:p.A1006T	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00896826043251	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772140604	2.137e-05	3.694e-05	1.829e-05	2.452e-05	2.716e-05	1.516e-05	1.315e-05	1.501e-05	1.261e-05	0	0	0	2.716e-05	6.189e-05	0	2.219e-05	0	2.495e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.761	0.08067	T	0.914	0.02926	T	0.001	0.09854	B	0.003	0.08700	B	0.086711	0.02411	N	2.271890	1	0.08975	N	0.74	0.18910	N	4.53	0.01980	T	0.4	0.03463	N	0.077	0.13626	-1.0049	0.28487	T	0.050	0.21300	T	10	0.040042162	0.02541	T	0.008968	0.23631	T	0.020	0.03691	0.411	0.44723	0.0401082797425	0.02173	0.10676479208092807	0.10606	0.0225543071928	0.02277	0.354481011629	0.18579	T	6.95E-4	0.00312	T	-0.286365	0.10004	T	-0.64912	0.09016	T	0.034952446496523	0.02800	T	0.320668	0.07246	T	0.020757832	0.00646	0.035932526	0.02939	0.020757832	0.00646	0.035932526	0.02939	-4.121	0.27455	T	.	.	0.085	0.10352	B	.;.	.;.	-1.343557	0.00402	0.008	0.81539247038156815	0.13735	0.01938	0.05902	N	AEFDGBHCI	0.027483	0.02252	N	-1.44708722119642	0.02240	0.09869339	-1.62062004865872	0.01535	0.06952256	0.99999999996226	0.74766	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.76	-9.06	0.00623	-2.587000	0.00976	-4.301000	0.02229	-1.802000	0.00623	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2479:0.3466:0.4055:0.0	9.566	0.38561	958	0.09170	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006701	0.000000	0.009722	0.000000	0.000000	0.009091	0.000000	0.018939	0.02632	766.33	40	chr9	136859064	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.103;DP=708;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=1.44;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr9	136908115	136908115	G	A	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon5:c.G412A:p.A138T	.	416	1089	16	1	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0321934540326	0.0003	0.00159744	0.0018	9.798e-05	0.0012	0	0.0008	0.0007	0.0034	0.0086	0.0015588	241	154602	rs138185376	0.0013	0.0013	0.0011	0.0016	0.0096	0.0013	0.0013	0.0091	0.0089	0.0001	0.0009	3.827e-05	0	0.0008	0.0031	0.0009	0.0012	0.0096	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	0.071	0.35918	T	0.022	0.57587	D	0.223	0.30377	B	0.029	0.21540	B	0.000213	0.47681	D	0.185011	0.999961	0.18878	N	2.105	0.58435	M	1.74	0.30133	T	-1.38	0.34198	N	0.514	0.54496	-1.0449	0.15854	T	0.065	0.26983	T	10	0.0094591975	0.00213	T	0.032193	0.54088	D	0.072	0.21020	.	.	0.380246515176	0.37641	0.5940008471389561	0.59330	0.310249593275	0.33346	0.52821803093	0.42783	T	0.138257	0.47164	T	-0.454406	0.01064	T	-0.418819	0.31211	T	0.0493231351465872	0.05381	T	0.79532	0.43818	T	0.045307472	0.07395	0.06158536	0.11916	0.045307472	0.07395	0.06158536	0.11916	-7.646	0.58631	D	.	.	0.090	0.12512	B	.;.;.	.;.;.	2.775853	0.36451	20.2	0.99011657794251684	0.50377	0.71186	0.34905	D	AEFDGBCI	0.128994	0.24699	N	-0.287756098886917	0.29621	1.644219	-0.283921472763495	0.28627	1.597637	0.99982034078673	0.43622	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.16	4.16	0.48138	3.210000	0.50832	5.405000	0.48522	-0.120000	0.14102	0.999000	0.42656	1.000000	0.68203	0.080000	0.17246	0.0:0.0:0.809:0.191	10.664	0.44913	807	0.43470	Zinc finger, TRAF-type;Zinc finger, TRAF-type;Zinc finger, TRAF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1684.33	34	chr9	136908115	.	G	A	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.936;DP=796;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.305;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr9	137012538	137012538	C	T	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon32:c.G5134A:p.G1712S,ABCA2:NM_212533:exon32:c.G5224A:p.G1742S	.	395	1118	9	0	0	9	0.00400891	.	.	.	1196041	ABCA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.449	0.231153726753	0.0036	0.00119808	0.0036	0.0010	0.0006	0.0001	0.0046	0.0050	0.0057	0.0030	0.0033635	520	154602	rs149871834	0.0046	0.0046	0.0046	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0006	0.0007	0.0008	0	0.0043	0.0009	0.0053	0.0044	0.0030	0.0032	0.0032	0.0033	0.0030	0.0052	0.0029	0.0028	0.0047	0.0045	0.0010	0	0.0019	0.0009	0.0002	0.0037	0	0.0052	0.0033	0.0023	0.568	0.06223	T	0.397	0.15157	T	1.0	0.90584	D	1.0	0.97372	D	0.719432	0.09947	N	0.861006	1	0.81001	D	1.79	0.46772	L	-2.19	0.86815	D	-0.86	0.23372	N	0.804	0.79986	-0.8205	0.53902	T	0.170	0.51036	T	10	0.037586868	0.02122	T	0.231154	0.88263	D	0.449	0.75004	.	.	0.817233481088	0.81551	0.9452691304938543	0.94508	1.69315442558	0.90169	0.63660800457	0.58082	T	0.310158	0.68213	T	-0.207665	0.19710	T	-0.0684612	0.65736	T	0.0734686114453142	0.09130	T	0.919908	0.71037	D	0.1047209	0.24756	0.14399126	0.34201	0.1047209	0.24756	0.14399126	0.34200	-6.922	0.53462	T	.	.	0.127	0.34819	B	.;.;.;.	.;.;.;.	3.893541	0.56671	23.8	0.9850622526228987	0.42276	0.99340	0.94730	D	AEFGBI	0.880767	0.80763	D	0.0287531230249203	0.43166	2.614916	0.0120461416031422	0.40272	2.40086	0.999999988998784	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	7.087000	0.76559	7.274000	0.58000	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:1.0:0.0:0.0	16.677	0.85139	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1238.33	54	chr9	137012538	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=925;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.86;SOR=0.575	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,988	18	0	1	0
chr9	137021564	137021564	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon8:c.C725T:p.P242L,ABCA2:NM_212533:exon8:c.C815T:p.P272L	.	416	1100	6	0	0	6	0.00271985	.	.	.	723481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.158	0.0762435017494	0.0006	0.000199681	0.0016	0.0004	0	0	0	0.0014	0.0036	0.0029	0.000511	79	154602	rs199537832	0.0008	0.0008	0.0008	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0002	0.0001	0	0	6.085e-05	0.0004	0.0009	0.0007	0.0019	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0008	0.0008	0.0004	0	6.537e-05	0	0.0002	0	0	0.0010	0.0009	0.0017	0.077	0.34444	T	0.291	0.20944	T	0.254	0.31272	B	0.011	0.15521	B	0.000027	0.00348	N	264.128000	1	0.08975	N	1.39	0.34934	L	-2.13	0.86349	D	0.19	0.04947	N	0.29	0.36359	-0.6313	0.63515	T	0.372	0.73121	T	10	0.0091997385	0.00208	T	0.076244	0.72484	D	0.158	0.41098	.	.	0.239312915715	0.23560	0.4197268774209651	0.41888	0.121704025482	0.13713	0.579348921776	0.49994	T	0.260379	0.63175	T	-0.407252	0.02073	T	-0.364242	0.37560	T	0.00804406218230724	0.00095	T	0.772023	0.40277	T	0.060355436	0.12375	0.052136425	0.08529	0.060355436	0.12375	0.052136425	0.08528	-2.314	0.04661	T	.	.	0.117	0.25462	B	.;.;.;.	.;.;.;.	1.458203	0.18805	13.93	0.39246825666287061	0.02696	0.13346	0.17804	N	AEFDGBHC	0.177712	0.30496	N	-1.07206028819892	0.07161	0.3318688	-1.08514535174824	0.07991	0.3910546	0.999990036133541	0.74766	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.62	1.57	0.22490	0.251000	0.18025	1.529000	0.27146	0.593000	0.32247	0.008000	0.17931	0.850000	0.27382	0.002000	0.04165	0.118:0.6224:0.2596:0.0	8.550	0.32607	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1100.33	33	chr9	137021564	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=728;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.645;SOR=0.949	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1234	18	0	1	0
chr9	137022800	137022800	C	T	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon5:c.G341A:p.R114Q,ABCA2:NM_212533:exon5:c.G431A:p.R144Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	3512333	ABCA2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.575949425692	.	.	0.0002	0	0.0005	0	0.0007	0.0001	0	0.0002	9.7e-05	15	154602	rs759220923	5.62e-05	5.814e-05	4.82e-05	6.432e-05	0.0011	4.608e-05	4.214e-05	0.0005	0.0003	6.034e-05	0.0002	0	0	0.0003	0.0011	3.534e-05	6.716e-05	7.23e-05	6.568e-05	6.562e-05	6.428e-05	6.714e-05	7.217e-05	3.515e-05	2.615e-05	1.973e-05	1.125e-05	7.217e-05	0	6.534e-05	0	0	0	0.0034	5.883e-05	0.0005	0	0.246	0.20988	T	0.333	0.18560	T	0.716	0.42206	P	0.085	0.29395	B	.	.	.	.	0.997482	0.43926	D	1.04	0.26193	L	-2.23	0.87116	D	-0.69	0.19933	N	0.435	0.47395	-0.0341	0.81544	T	0.552	0.83597	D	9	0.22045594	0.38743	T	0.575949	0.96183	D	0.226	0.52472	.	.	0.648076618867	0.64515	0.708650740759092	0.70807	0.262240623226	0.28788	0.742452383041	0.73334	T	0.298981	0.67153	T	-0.188455	0.22484	T	-0.21092	0.53608	T	0.0332360129120965	0.02510	T	0.950805	0.81197	D	0.11754622	0.27710	0.18254343	0.41188	0.11754622	0.27709	0.18254343	0.41187	-3.916	0.22542	T	.	.	0.100	0.26731	B	.;.;.;.	.;.;.;.	3.866145	0.56101	23.7	0.99811439259407875	0.89531	0.44747	0.27386	N	AEFGBI	0.569273	0.57412	D	-0.0613729917927657	0.39096	2.300133	-0.0572469360494168	0.37179	2.173336	0.999999999999976	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	2.753000	0.47203	4.643000	0.44164	0.543000	0.25316	0.092000	0.22623	0.998000	0.33993	0.892000	0.42986	0.0:1.0:0.0:0.0	16.234	0.82186	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003046	0.005102	0.004076	0.002941	0.000000	0.000000	0.003125	0.000000	0.02632	2290.33	60	chr9	137022800	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=905;ExcessHet=0;FS=12.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.216;SOR=0.832	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	18	0	1	0
chr9	137031666	137031666	C	T	exonic	FUT7	.	nonsynonymous SNV	FUT7:NM_004479:exon2:c.G73A:p.A25T	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00932991516747	.	.	5.744e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs752391686	1.072e-05	1.163e-05	1.411e-05	7.239e-06	1.295e-05	6.44e-06	5.1e-06	7.51e-06	5.88e-06	0	0	0	0	0	0	1.295e-05	1.725e-05	0	6.572e-06	6.566e-06	1.285e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.561	0.06361	T	0.772	0.04446	T	0.0	0.02946	B	0.0	0.01387	B	0.000212	0.00519	U	14.105400	1	0.08975	N	0.625	0.15840	N	1.73	0.26445	T	0.57	0.02638	N	0.091	0.06990	-1.0332	0.19427	T	0.021	0.08686	T	10	0.043473005	0.03200	T	0.00933	0.24483	T	0.043	0.11576	0.612	0.74535	0.262679179196	0.25893	0.5135662454098043	0.51278	0.290875137711	0.31494	0.491239309311	0.37610	T	0.026993	0.19862	T	-0.369186	0.03635	T	-0.768086	0.02832	T	0.0255135472929815	0.01340	T	0.284972	0.05045	T	0.024384191	0.01265	0.04999692	0.07757	0.024384191	0.01265	0.04999692	0.07756	-5.151	0.38439	T	.	.	0.081	0.08465	B	.	.	-1.447913	0.00328	0.006	0.90761095140074211	0.20010	0.00148	0.00897	N	AEFGBI	0.043302	0.06830	N	-1.95543420203551	0.00263	0.01129239	-2.0470224182354	0.00243	0.01070335	0.999999998606527	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	-9.52	0.00487	-3.684000	0.00442	-3.563000	0.02693	-1.080000	0.01570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1141:0.178:0.082:0.6259	4.673	0.12082	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	927.33	35	chr9	137031666	.	C	T	927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=721;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.163;SOR=1.248	GT:AD:DP:GQ:PL	0/1:36,36:72:99:941,0,823	18	0	1	0
chr9	137051106	137051106	G	C	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon5:c.C570G:p.F190L,ENTPD2:NM_203468:exon5:c.C570G:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00313967710169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.663	0.06448	T	0.001	0.07471	B	0.005	0.11217	B	0.846785	0.08992	N	0.939113	0.999841	0.20103	N	0.78	0.19475	N	2.83	0.10771	T	0.17	0.05706	N	0.275	0.31478	-0.9389	0.42790	T	0.013	0.04890	T	10	0.048255265	0.04253	T	0.00314	0.06845	T	0.023	0.04649	0.441	0.49648	0.18995819373	0.18626	0.5350042482264216	0.53425	0.0667853530577	0.07447	0.438463270664	0.30368	T	0.008	0.07627	T	-0.286229	0.10017	T	-0.648925	0.09030	T	0.0289839916594457	0.01834	T	0.544446	0.18591	T	0.056657955	0.11178	0.04606111	0.06334	0.056657955	0.11177	0.04606111	0.06334	0.996	0.00133	T	.	.	0.464	0.69706	A	.;.	.;.	1.124019	0.15098	11.59	0.94733683833989302	0.25418	0.07771	0.13769	N	AEFGBI	0.105430	0.21066	N	-0.838032510718258	0.12346	0.6012433	-0.743879526100685	0.15872	0.8369661	0.943653466213405	0.27579	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.25	-0.0034	0.13349	-0.371000	0.07569	1.956000	0.29912	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.985000	0.61073	0.3538:0.0:0.4872:0.1591	4.077	0.09386	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1347.33	35	chr9	137051106	.	G	C	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=765;ExcessHet=0;FS=1.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.027;SOR=0.509	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	18	0	1	0
chr9	137051225	137051225	C	T	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon4:c.G532A:p.E178K,ENTPD2:NM_203468:exon4:c.G532A:p.E178K	.	432	1084	6	0	0	6	0.00275989	.	.	.	2823667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	0.045190224002	0.0062	0.00119808	0.0055	0.0016	0.0023	0	0.0023	0.0088	0.0022	0.0013	0.0054268	839	154602	rs76730730	0.0075	0.0075	0.0077	0.0074	0.0093	0.0074	0.0074	0.0091	0.0090	0.0012	0.0026	0.0003	0	0.0025	0.0003	0.0093	0.0054	0.0010	0.0046	0.0046	0.0052	0.0040	0.0081	0.0043	0.0042	0.0075	0.0073	0.0016	0.0022	0.0041	0	0	0.0015	0	0.0081	0.0019	0.0008	0.091	0.37536	T	0.173	0.30143	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.195	0.61839	M	2.83	0.10771	T	-2.72	0.57920	D	0.634	0.64733	-1.1563	0.00850	T	0.054	0.22959	T	10	0.012442589	0.00267	T	0.04519	0.61857	D	0.219	0.51417	.	.	0.718346079901	0.71586	0.8736257368295273	0.87328	0.369265190435	0.38454	0.71075373888	0.68702	T	0.112339	0.42853	T	-0.372401	0.03474	T	-0.297317	0.45008	T	0.0218495455353041	0.00892	T	0.940673	0.77758	D	0.8140864	0.84824	0.6734924	0.80834	0.8140864	0.84825	0.6734924	0.80835	-9.524	0.71008	D	.	.	0.394	0.66450	A	.;.	.;.	5.359213	0.89882	31	0.99901336912038574	0.97275	0.96422	0.69061	D	AEFDGBHCI	0.744647	0.68757	D	0.628725256775922	0.74999	6.22901	0.592900224758422	0.74429	6.135661	0.99999923184933	0.74766	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	4.841000	0.62523	7.528000	0.59870	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.360	0.83096	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1160.33	35	chr9	137051225	.	C	T	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=789;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.694;SOR=0.63	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	18	0	1	0
chr9	137112113	137112113	T	C	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon9:c.A1049G:p.Q350R	.	.	.	.	.	.	.	.	0.9998	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.199824329897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231815522	2.055e-06	2.736e-06	1.364e-06	2.754e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	U	0.000000	0.999915	0.51042	D	3.555	0.93317	H	2.03	0.20959	T	-3.57	0.68999	D	0.899	0.89912	-0.5424	0.67073	T	0.199	0.55485	T	10	0.97584385	0.97349	D	0.199824	0.86674	D	0.515	0.79279	0.905	0.97985	0.6276227268	0.62458	0.9972204130908224	0.99720	0.4493125305	0.44725	0.627154707909	0.56742	T	0.22172	0.58537	T	0.216934	0.75486	D	0.073834	0.75166	D	0.9966099858284	0.89693	D	0.868313	0.57032	D	0.9814291	0.99217	0.92917615	0.97038	0.9814291	0.99217	0.92917615	0.97039	-11.88	0.84261	D	.	.	0.908	0.83302	P	.	.	5.082999	0.84841	28.4	0.99781189034445172	0.86780	0.89062	0.49306	D	AEFDGBHCI	0.836171	0.75397	D	0.695758482391129	0.79355	7.060076	0.547281656370363	0.71206	5.619925	0.999999999999361	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.67	3.67	0.41236	3.046000	0.49536	4.734000	0.44570	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	10.504	0.44008	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1046.33	35	chr9	137112113	.	T	C	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=786;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.67;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	18	0	1	0
chr9	137169418	137169418	C	G	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G526C:p.D176H	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.580358652543	.	0.000998403	0.0028	0	0.0023	0.0071	0	0.0002	0	0.0044	0.0003234	50	154602	rs563732337	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	0	5.809e-05	0	0.0004	0	0.0016	5.777e-05	0.0003	0.0033	0.0002	0.0002	3.858e-05	0.0003	0.0033	0.0001	8.72e-05	0.0021	0.0017	0	0	0	0	0.0008	0	0	4.413e-05	0	0.0033	0.004	0.65419	D	0.168	0.30631	T	0.948	0.53620	P	0.901	0.63994	P	0.001747	0.38106	N	0.114825	1	0.08975	N	-0.02	0.05091	N	0.46	0.56281	T	-3.59	0.69236	D	0.285	0.32259	-1.0237	0.22508	T	0.128	0.43625	T	10	0.0070390403	0.00160	T	0.580359	0.96237	D	0.118	0.32913	0.261	0.20473	0.340510301474	0.33666	0.5399067227243248	0.53915	1.64548930497	0.89442	0.921778619289	0.98456	D	0.063147	0.32101	T	-0.449385	0.01139	T	-0.421338	0.30922	T	0.109117556538985	0.13332	T	0.738226	0.35599	T	0.3814089	0.59418	0.3889117	0.63724	0.3814089	0.59418	0.3889117	0.63723	-5.531	0.42157	T	.	.	0.405	0.59832	A	.	.	4.024500	0.59468	24.1	0.99123202392481891	0.53037	0.04624	0.10287	N	ALL	0.135305	0.25560	N	-0.288043707976386	0.29610	1.643498	-0.382218038222062	0.25527	1.404369	0.99999999998509	0.74766	0.443343	0.08805	1	0.560097	0.17682	1	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.14	3.23	0.36150	0.171000	0.16497	2.463000	0.32863	0.503000	0.22915	0.002000	0.15269	0.996000	0.32793	0.835000	0.39381	0.0:0.7667:0.0:0.2333	6.319	0.20413	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	584.33	33	chr9	137169418	.	C	G	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.194;DP=745;ExcessHet=0;FS=5.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.93;SOR=0.301	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1325	18	0	1	0
chr9	137169709	137169709	C	A	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G235T:p.D79Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	0.0056	0.00219649	0.0025	0.0059	0.0109	0	0	0.0035	0.0109	0.0018	0.0021604	334	154602	rs200394432	0.0089	0.0084	0.0092	0.0086	0.0101	0.0088	0.0087	0.0100	0.0099	0.0010	0.0041	0.0026	0	0.0111	0.0004	0.0101	0.0085	0.0011	0.0069	0.0069	0.0071	0.0067	0.0104	0.0065	0.0064	0.0098	0.0095	0.0018	0.0011	0.0056	0.0012	0	0.0145	0	0.0104	0.0085	0.0006	0.092	0.31682	T	0.08	0.41913	T	0.995	0.67487	D	0.879	0.62418	P	0.017411	0.27731	N	0.251573	1	0.08975	N	0.38	0.12130	N	0.32	0.58468	T	-2.92	0.61129	D	0.447	0.48504	-0.9694	0.37324	T	0.149	0.47487	T	10	0.007945657	0.00180	T	.	.	.	0.150	0.39571	.	.	0.453307948783	0.44952	0.589860186267563	0.58916	1.6732094712	0.89882	0.924031734467	0.98615	D	0.060064	0.31284	T	-0.396956	0.02424	T	-0.332589	0.41181	T	0.0415163143787757	0.03965	T	0.514149	0.16548	T	0.1394966	0.32221	0.23409446	0.48616	0.1394966	0.32220	0.23409446	0.48615	-10.112	0.74580	D	.	.	0.694	0.72696	P	.	.	4.097554	0.61070	24.3	0.98227979850434222	0.39360	0.05632	0.11542	N	ALL	0.220041	0.34484	N	-0.176251100108009	0.34126	1.944075	-0.354296257165131	0.26376	1.456507	0.999999999996258	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.56	1.62	0.22817	0.249000	0.17989	2.497000	0.33011	0.499000	0.22661	0.000000	0.06391	0.999000	0.35428	0.519000	0.29452	0.0:0.5304:0.2161:0.2535	3.505	0.07247	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002796	0.000000	0.002985	0.003125	0.000000	0.000000	0.003472	0.008696	0.02632	1017.33	35	chr9	137169709	.	C	A	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.194;DP=750;ExcessHet=0;FS=4.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.964;SOR=1.009	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1325	18	0	1	0
chr9	137169926	137169926	C	A	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G18T:p.W6C	.	393	1127	2	0	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.142707614301	.	.	0.0002	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs760990925	8.409e-06	1.984e-05	3.012e-06	1.397e-05	0.0001	4.51e-06	3.3e-06	7.706e-05	5.846e-05	0	0	0	0	0	0	0	1.843e-05	0.0001	1.313e-05	1.969e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.03	0.54159	D	0.582	0.38854	P	0.187	0.36167	B	0.893737	0.07312	N	1.065440	1	0.08975	N	0.345	0.11182	N	-0.28	0.67543	T	-0.35	0.12847	N	0.092	0.07125	-0.9391	0.42759	T	0.151	0.47856	T	10	0.08372113	0.13955	T	0.142708	0.82507	D	0.073	0.21317	0.395	0.42099	0.204665344411	0.20097	0.46696966431148007	0.46615	0.874967012048	0.69533	0.566347956657	0.48162	T	0.005653	0.05100	T	-0.148718	0.28514	T	-0.451399	0.27542	T	0.0838962526968675	0.10477	T	0.510149	0.16261	T	0.093952894	0.22078	0.067950994	0.14126	0.093952894	0.22078	0.067950994	0.14125	-2.943	0.09580	T	.	.	0.210	0.43721	B	.	.	1.757559	0.22356	15.59	0.69850461437535094	0.09105	0.05599	0.11503	N	AEFDGBCI	0.185858	0.31318	N	-0.979570441710066	0.09040	0.4262542	-1.0998590381572	0.07703	0.3757708	0.99999975654794	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.5	-0.416	0.11736	0.067000	0.14378	0.854000	0.22166	-0.367000	0.05470	0.000000	0.06391	0.017000	0.20586	0.001000	0.02609	0.1388:0.5234:0.3378:0.0	5.806	0.17704	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	424.33	19	chr9	137169926	.	C	A	424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.806;SOR=0.673	GT:AD:DP:GQ:PL	0/0:22,0:22:63:0,63,945	18	0	1	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1454.33	35	chr9	137186288	.	C	T	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=800;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.209;SOR=0.774	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	18	0	1	0
chr9	137192553	137192579	CCTCTTCCTCCTCTTCCTCTTCCTCCT	-	exonic	TPRN	.	nonframeshift deletion	TPRN:NM_001128228:exon2:c.1838_1864del:p.E613_E621del	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.177e-05	0	0	0	0	9.362e-05	0	0	3.84e-05	1	26028	rs775298549	1.44e-05	1.437e-05	1.91e-05	9.654e-06	1.261e-05	9.26e-06	7.86e-06	7.32e-06	5.72e-06	0	0	0.0002	0	0	0	1.261e-05	1.659e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1989.29	34	chr9	137192552	.	CCCTCTTCCTCCTCTTCCTCTTCCTCCT	C	1989.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=770;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.31;ReadPosRankSum=0.79;SOR=0.52	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L	Deafness, autosomal recessive 79, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003033	0.000000	0.002732	0.005882	0.000000	0.000000	0.003067	0.003788	0.02632	1700.33	33	chr9	137199456	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=745;ExcessHet=0;FS=2.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.369;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr9	137200294	137200294	A	G	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.T418C:p.F140L	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.37270849483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.87	0.03314	T	0.127	0.26966	B	0.041	0.23986	B	.	.	.	.	0.970235	0.27891	N	0.695	0.17993	N	.	.	.	-0.82	0.22508	N	0.079	0.05414	-1.0210	0.23389	T	0.044	0.19070	T	7	0.12753224	0.24254	T	0.372708	0.92785	D	0.015	0.02232	0.157	0.06070	0.0138822411134	0.00435	0.2401702424856078	0.23931	.	.	0.949860095978	0.99748	D	0.021338	0.16634	T	-0.0955393	0.37161	T	-0.375012	0.36305	T	0.125866546536816	0.14994	T	0.369563	0.08694	T	0.18029234	0.39142	0.12543239	0.30221	0.18029234	0.39142	0.12543239	0.30221	-5.455	0.41445	T	0.7052065062591604	0.78473	0.981	0.91282	P	.	.	2.773647	0.36418	20.2	0.63729978848142566	0.07301	0.04442	0.10042	N	AEFDBHCIJ	0.036408	0.04845	N	-0.973855968481935	0.09164	0.4326254	-1.00160250105221	0.09750	0.4869094	0.999999825594633	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	3.26	0.746	0.17514	1.292000	0.32948	10.180000	0.83233	-0.473000	0.05086	0.961000	0.33663	1.000000	0.68203	0.007000	0.07825	0.6017:0.0:0.1476:0.2507	2.213	0.03712	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	98.42	9	chr9	137200294	.	A	G	98.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.712;DP=217;ExcessHet=0;FS=0;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.936;SOR=0.495	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,367	18	0	1	0
chr9	137214689	137214689	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon6:c.C740T:p.P247L,NDOR1:NM_001144026:exon7:c.C842T:p.P281L,NDOR1:NM_001144028:exon7:c.C842T:p.P281L,NDOR1:NM_014434:exon7:c.C842T:p.P281L	.	398	1113	11	0	0	11	0.0049173	0.6000	0.576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0018	0.0213658	0.0076	0.0039	0.0006	0.0693	0.0003	0.0011	0.0058	0.0109	0.0072185	1116	154602	rs117332028	0.0038	0.0037	0.0036	0.0039	0.0658	0.0037	0.0036	0.0637	0.0628	0.0029	0.0007	7.665e-05	0.0658	0.0012	0.0019	0.0013	0.0056	0.0106	0.0051	0.0052	0.0045	0.0058	0.0738	0.0048	0.0047	0.0677	0.0653	0.0038	0	0.0014	0	0.0738	0.0007	0	0.0020	0.0024	0.0147	0.018	0.50676	D	0.071	0.43531	T	0.766	0.43754	P	0.593	0.50536	P	0.001248	0.39669	N	0.253336	0.999998	0.81001	D	1.965	0.53209	M	-0.17	0.65563	T	-6.11	0.90023	D	0.629	0.64308	-0.9785	0.35345	T	0.037	0.16160	T	10	0.0043242574	0.00087	T	.	.	.	0.241	0.54641	.	.	0.803063965305	0.80122	0.3884563835396147	0.38760	0.518287771007	0.49694	0.438803374767	0.30413	T	0.108675	0.42191	T	-0.420917	0.01687	T	-0.323133	0.42231	T	0.0394972948705921	0.03599	T	0.779622	0.41374	T	0.27210173	0.50280	0.24086615	0.49471	0.27210173	0.50280	0.24086615	0.49469	-5.006	0.37812	T	.	.	0.091	0.16929	B	.;.;.;.	.;.;.;.	3.956057	0.57992	23.9	0.99359996268202244	0.60946	0.87204	0.46673	D	AEFGBI	0.277153	0.39173	N	0.0192114807870348	0.42730	2.580047	0.0324596172700133	0.41231	2.473702	0.999998751719455	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.75	3.83	0.43287	2.363000	0.43831	2.055000	0.30365	0.520000	0.23804	0.996000	0.39380	0.915000	0.28207	0.070000	0.16646	0.0:0.9088:0.0:0.0912	11.419	0.49214	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.004076	0.002924	0.000000	0.000000	0.009146	0.015152	0.02632	1110.33	45	chr9	137214689	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.546;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.021;SOR=0.734	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	137214866	137214866	A	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon7:c.A811T:p.I271F,NDOR1:NM_001144026:exon8:c.A913T:p.I305F,NDOR1:NM_001144028:exon8:c.A913T:p.I305F,NDOR1:NM_014434:exon8:c.A913T:p.I305F	.	415	1093	14	0	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.806294940511	0.0005	0.00119808	0.0012	0.0001	0.0004	0	0	0.0006	0	0.0056	0.0009638	149	154602	rs144580113	0.0007	0.0007	0.0005	0.0009	0.0066	0.0007	0.0007	0.0061	0.0059	0.0001	0.0002	0	0	2.002e-05	0.0028	0.0004	0.0006	0.0066	0.0006	0.0006	0.0005	0.0008	0.0083	0.0005	0.0005	0.0063	0.0055	0.0001	0	0.0003	0	0	0	0	0.0006	0.0005	0.0083	0.127	0.28772	T	0.143	0.35330	T	0.343	0.33512	B	0.317	0.47059	B	0.000219	0.47681	D	0.182021	0.999292	0.46578	D	2.54	0.74080	M	-2.1	0.86146	D	-2.81	0.59389	D	0.853	0.86941	-0.0433	0.81348	T	0.614	0.86347	D	10	0.08978066	0.15582	T	0.806295	0.98488	D	0.656	0.87085	.	.	0.853249613613	0.85183	0.7781688093615933	0.77766	0.543113386771	0.51396	0.585572302341	0.50871	T	0.115182	0.43357	T	-0.13617	0.30501	T	0.0332671	0.72489	D	0.0575175356298926	0.06771	T	0.929907	0.75876	D	0.11483601	0.27106	0.13076979	0.31416	0.11483601	0.27106	0.13076979	0.31415	-12.044	0.85655	D	.	.	0.391	0.63057	A	.;.;.;.	.;.;.;.	2.844215	0.37536	20.5	0.98270654102088928	0.39759	0.88374	0.48272	D	AEFDGBI	0.333330	0.43246	N	-0.0484498208426856	0.39671	2.34331	-0.0493498762302128	0.37519	2.197836	0.999950727499491	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.3	1.91	0.24841	1.666000	0.37076	0.431000	0.18324	0.751000	0.87719	0.987000	0.36337	0.001000	0.17328	0.587000	0.31065	0.6469:0.1683:0.1848:0.0	4.419	0.10897	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2006.33	45	chr9	137214866	.	A	T	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=929;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.917;SOR=0.712	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr9	137234642	137234643	CT	-	exonic	SLC34A3	.	frameshift deletion	SLC34A3:NM_001177316:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_001177317:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_080877:exon12:c.1246_1247del:p.L417Tfs*175	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	946543	SLC34A3-related_disorder|Autosomal_recessive_hypophosphatemic_bone_disease|not_provided	.|MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	5.095e-05	0	0.0004	0	0	1.551e-05	0	0	3.88e-05	6	154602	rs757714479	7.054e-05	7.046e-05	7.768e-05	6.332e-05	0.0003	5.92e-05	5.529e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	0	0	7.105e-05	9.94e-05	2.319e-05	1.97e-05	1.968e-05	0	4.03e-05	0.0001	5.24e-06	2.45e-06	2.259e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5521.29	34	chr9	137234641	.	CCT	C	5521.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=964;ExcessHet=0;FS=0.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=-1.04;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	18	0	1	0
chr9	137245108	137245108	G	C	exonic	FAM166A	.	nonsynonymous SNV	FAM166A:NM_001001710:exon4:c.C633G:p.I211M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0002	0.0147764	0.0059	0.0003	0.0281	0.0339	0.0002	0.0002	0.0023	0.0029	0.0054592	844	154602	rs146192138	0.0023	0.0023	0.0023	0.0023	0.0429	0.0022	0.0022	0.0412	0.0405	0.0003	0.0236	0	0.0429	5.762e-05	0.0003	0.0001	0.0036	0.0029	0.0033	0.0033	0.0031	0.0035	0.0408	0.0031	0.0030	0.0363	0.0345	0.0002	0	0.0146	0	0.0408	0	0	0.0003	0.0080	0.0052	0.061	0.37118	T	0.0	0.92824	D	0.994	0.66517	D	0.831	0.59664	P	0.000322	0.45700	D	0.095743	0.923093	0.36736	D	1.905	0.50856	L	.	.	.	-0.42	0.14193	N	0.516	0.54671	-0.6471	0.62840	T	0.076	0.30366	T	9	0.0077626407	0.00176	T	.	.	.	0.241	0.54641	.	.	0.234412748748	0.23057	0.5634359948345401	0.56270	0.0063778380859	0.00556	0.526628494263	0.42560	T	0.038084	0.24714	T	-0.38946	0.02712	T	-0.304346	0.44263	T	0.0221937040341839	0.00931	T	0.714629	0.32694	T	0.13199797	0.30749	0.10356247	0.24852	0.13199797	0.30749	0.10356247	0.24851	-2.005	0.03200	T	.	.	0.317	0.54257	B	.	.	2.215665	0.28270	17.74	0.96274139751322863	0.29260	0.81360	0.40780	D	ALL	0.298828	0.40804	N	0.440071351426113	0.63642	4.601938	0.391236569369202	0.61023	4.296889	0.999999999997533	0.74766	0.495158	0.18159	0	0.514364	0.08380	0	0.535252	0.11790	0	0.645665	0.59343	0	.	.	5.23	5.23	0.72570	0.642000	0.24426	1.862000	0.29329	0.586000	0.30580	0.081000	0.22364	1.000000	0.68203	0.379000	0.26312	0.0:0.0:1.0:0.0	14.280	0.65756	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	789.33	42	chr9	137245108	.	G	C	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=722;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.736;SOR=1.142	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr9	137245828	137245828	G	A	exonic	FAM166A	.	nonsynonymous SNV	FAM166A:NM_001001710:exon2:c.C82T:p.R28C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.162453766162	7.7e-05	.	6.688e-05	0	0.0002	0	0	8.25e-05	0	0	4.53e-05	7	154602	rs140947216	2.139e-05	2.121e-05	2.452e-05	1.811e-05	0.0002	1.501e-05	1.297e-05	4.577e-05	2.739e-05	6.633e-05	0.0001	0	2.588e-05	0	0.0002	1.982e-05	0	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.007230	0.31521	N	0.257079	0.999787	0.49076	D	2.645	0.77386	M	0.83	0.47815	T	-5.43	0.85323	D	0.565	0.58883	-0.5564	0.66541	T	0.260	0.63033	T	10	0.65099996	0.69602	D	0.162454	0.84203	D	0.423	0.73152	.	.	0.552698843619	0.54927	0.646977369480683	0.64632	0.00752723051188	0.00664	0.619197130203	0.55615	T	0.248576	0.61839	T	0.00868691	0.52846	T	0.0230107	0.71826	D	0.851098775863647	0.50261	D	0.875412	0.59878	D	0.48449683	0.66172	0.5512977	0.74055	0.48449683	0.66173	0.5512977	0.74055	-5.187	0.38809	T	.	.	0.213	0.51227	B	.;.	.;.	5.259506	0.88314	29.5	0.99931906535048742	0.99439	0.56380	0.30102	D	AEFDGBCI	0.471200	0.51684	N	0.541351237992685	0.69555	5.373897	0.482627916781486	0.66839	5.004621	0.999999218054965	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.1	4.14	0.47821	1.977000	0.40211	9.649000	0.81166	0.672000	0.70159	0.992000	0.37556	1.000000	0.68203	0.779000	0.36868	0.0:0.0:0.7524:0.2476	12.157	0.53388	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	936.33	35	chr9	137245828	.	G	A	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.381;DP=779;ExcessHet=0;FS=1.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-1.173;SOR=0.515	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1281	18	0	1	0
chr9	137252936	137252936	C	A	exonic	STPG3	.	nonsynonymous SNV	STPG3:NM_001004353:exon5:c.C767A:p.S256Y,STPG3:NM_001256699:exon5:c.C767A:p.S256Y,STPG3:NM_001256700:exon5:c.C602A:p.S201Y,STPG3:NM_001256701:exon5:c.C602A:p.S201Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0671236170057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.041	0.79402	D	0.999	0.77913	D	0.983	0.75793	D	0.948547	0.07640	N	1.030930	1	0.08975	N	.	.	.	0.35	0.58029	T	-4.46	0.77798	D	0.422	0.46180	-0.8798	0.49778	T	0.263	0.63448	T	10	0.27867687	0.45438	T	0.067124	0.70075	D	0.094	0.27141	.	.	0.640272089493	0.63730	0.556244540301249	0.55551	0.115428939008	0.13013	.	.	.	0.039856	0.34056	T	-0.098365	0.36696	T	-0.379071	0.35832	T	0.94389945268631	0.61951	D	0.651035	0.26688	T	0.27370483	0.50437	0.33011523	0.58884	0.27370483	0.50437	0.33011523	0.58883	-9.043	0.86883	D	.	.	0.200	0.53087	B	.;.;.;.	.;.;.;.	2.481137	0.31997	18.91	0.99157233599329286	0.53987	0.20731	0.21148	N	AEFGBCI	0.145596	0.26885	N	-0.0710615924978839	0.38665	2.268114	-0.255403441089526	0.29585	1.658732	0.999983205244074	0.51787	0.608966	0.35542	0	0.187218	0.04217	2	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.95	3.02	0.33970	0.668000	0.24808	0.861000	0.22228	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8756:0.0:0.1244	7.587	0.27167	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	457.33	38	chr9	137252936	.	C	A	457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=705;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.291;SOR=0.829	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1008	18	0	1	0
chr9	137279666	137279666	T	G	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.T977G:p.F326C	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0211661	0.0082	0.0226	0.0371	0.0392	0	0.0003	0.0065	0.0047	0.0045795	708	154602	rs28516757	0.0025	0.0025	0.0025	0.0024	0.0338	0.0024	0.0024	0.0322	0.0316	0.0170	0.0191	0.0006	0.0338	2.757e-05	0.0025	0.0002	0.0054	0.0039	0.0083	0.0083	0.0084	0.0082	0.0402	0.0079	0.0078	0.0357	0.0340	0.0172	0	0.0176	0.0003	0.0402	0	0.0068	0.0004	0.0099	0.0037	0.176	0.22312	T	0.126	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.59	0.53943	T	-0.11	0.08653	N	0.11	0.09631	-1.0837	0.06646	T	0.011	0.04274	T	9	0.0024200678	0.00036	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	0.7652302752446954	0.76472	1.6293561875	0.89194	0.755126357079	0.75204	T	0.034567	0.23374	T	-0.620432	0.00109	T	-0.638222	0.09799	T	0.000142043531616991	0.00001	T	0.147885	0.01227	T	0.03345066	0.03567	0.033385046	0.02224	0.03345066	0.03567	0.033385046	0.02223	-4.361	0.29023	T	.	.	0.137	0.29860	B	.	.	0.370028	0.07422	4.054	0.50929529625452752	0.04471	0.07231	0.13255	N	AEFGBCI	0.040331	0.05986	N	-1.54006810942247	0.01593	0.06962702	-1.58010280436456	0.01777	0.08087423	0.999973011656619	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.23	-3.02	0.05116	-0.336000	0.07908	0.000000	0.13247	-2.361000	0.00305	0.000000	0.06391	0.044000	0.21668	0.000000	0.00833	0.1042:0.4793:0.1288:0.2877	2.737	0.04921	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002740	0.002959	0.000000	0.008772	0.003067	0.003788	0.02632	2526.33	36	chr9	137279666	.	T	G	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=914;ExcessHet=0;FS=0.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.02;SOR=0.733	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1248	18	0	1	0
chr9	137279855	137279855	C	A	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.C1166A:p.A389D	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	7.7e-05	0.00579073	0.0083	0	0.0009	0	0	3.945e-05	0	0.0381	0.003454	534	154602	rs199638778	0.0020	0.0020	0.0011	0.0028	0.0324	0.0019	0.0019	0.0313	0.0309	6.024e-05	4.751e-05	0	2.579e-05	0	0.0016	1.63e-05	0.0021	0.0324	0.0011	0.0011	0.0005	0.0017	0.0323	0.0009	0.0009	0.0281	0.0266	0.0001	0	0.0002	0	0	0	0	0	0.0005	0.0323	0.314	0.13834	T	0.271	0.22291	T	0.031	0.20130	B	0.01	0.14941	B	0.053531	0.22801	N	0.486110	0.807614	0.34596	D	1.995	0.54099	M	0.44	0.56609	T	0.71	0.02130	N	0.135	0.13198	-0.9298	0.44168	T	0.121	0.42058	T	10	0.0029107034	0.00047	T	.	.	.	0.101	0.28911	.	.	0.166414681773	0.16258	0.6049456246572906	0.60425	1.69134969673	0.90132	0.676560103893	0.63776	T	0.009468	0.08620	T	-0.430063	0.01481	T	-0.366158	0.37338	T	0.0239424817061536	0.01138	T	0.553245	0.19112	T	0.18322791	0.39580	0.17690974	0.40257	0.18322791	0.39580	0.17690974	0.40257	-4.559	0.31652	T	.	.	0.132	0.28550	B	.	.	1.626469	0.20771	14.90	0.97113217363356841	0.32422	0.14666	0.18523	N	AEFGBCI	0.177914	0.30517	N	-0.575316679759639	0.19696	1.032871	-0.530826938593484	0.21318	1.152666	0.999998741226594	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.68	3.75	0.42236	0.274000	0.18443	1.114000	0.24184	0.583000	0.30283	0.000000	0.06391	0.603000	0.25729	0.024000	0.12247	0.0:0.5763:0.4237:0.0	10.775	0.45548	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003058	0.000000	0.001362	0.005917	0.000000	0.017544	0.003067	0.003788	0.02632	1621.33	36	chr9	137279855	.	C	A	1621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.683;DP=808;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.076;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1248	18	0	1	0
chr9	137356318	137356318	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon8:c.C707T:p.A236V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00469369400096	7.9e-05	0.000199681	0.0003	0	0	0.0017	0	0.0001	0	0.0005	0.0001423	22	154602	rs370748438	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	6.007e-05	6.911e-05	0	0.0005	1.919e-05	0.0002	0.0001	0.0003	0.0003	8.533e-05	8.529e-05	0.0001	5.37e-05	0.0004	4.952e-05	3.959e-05	6.823e-05	3.339e-05	7.213e-05	0	6.539e-05	0	0.0004	0	0	0.0001	0	0	0.723	0.03892	T	1.0	0.01155	T	0.004	0.12183	B	0.001	0.04355	B	0.693392	0.10156	N	0.820588	1	0.08975	N	-0.315	0.03579	N	0.67	0.52187	T	-0.03	0.07444	N	0.019	0.00279	-1.0041	0.28725	T	0.049	0.20987	T	10	0.017995358	0.00388	T	0.004694	0.11660	T	0.022	0.04323	.	.	0.0297737177859	0.01360	0.14244346294915572	0.14167	0.0529195894233	0.05834	0.387486368418	0.23315	T	6.56E-4	0.00285	T	-0.625318	0.00102	T	-0.747708	0.03575	T	0.017876278941217	0.00514	T	0.252475	0.03851	T	0.021795629	0.00802	0.03835375	0.03684	0.021795629	0.00802	0.03835375	0.03684	-0.601	0.00649	T	.	.	0.061	0.01092	B	.	.	-0.511745	0.01830	0.145	0.11441290579695744	0.00172	0.00048	0.00378	N	AEFDGBI	0.016308	0.00359	N	-1.68304618279356	0.00903	0.03910336	-1.70766408015645	0.01104	0.04960079	0.0113850484304987	0.12176	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.65	-2.93	0.05261	-0.953000	0.03987	-2.383000	0.03823	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2476:0.0:0.7524:0.0	11.979	0.52396	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	924.33	36	chr9	137356318	.	G	A	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=717;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.085;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1241	18	0	1	0
chr9	137373511	137373511	C	T	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_001286823:exon4:c.G209A:p.R70Q,EXD3:NM_017820:exon4:c.G209A:p.R70Q	.	408	1113	1	0	0	1	0.000449035	.	.	.	3438545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0237226216258	0.0002	0.000199681	0.0006	0.0002	0.0007	0	0	0.0004	0.0036	0.0015	0.000414	64	154602	rs200718958	0.0005	0.0005	0.0005	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	0.0001	0.0005	0	0	3.89e-05	0.0011	0.0005	0.0003	0.0010	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0003	0	0	9.409e-05	0	0.0003	0.0005	0.0014	0.354	0.15354	T	0.423	0.19016	T	0.009	0.31472	B	0.002	0.17743	B	0.001411	0.39109	N	0.243624	1	0.08975	N	0.69	0.16971	N	0.64	0.52867	T	-0.39	0.24676	N	0.101	0.08366	-1.0647	0.10619	T	0.051	0.21767	T	10	0.0079678	0.00181	T	0.023723	0.46692	T	0.017	0.02790	.	.	0.168933306366	0.16529	0.1883901063049497	0.18757	0.0603172951113	0.06703	0.299348950386	0.10303	T	0.001831	0.01251	T	-0.609923	0.00127	T	-0.69444	0.06135	T	0.0158672478100785	0.00372	T	0.756624	0.37993	T	0.019747952	0.00512	0.022761233	0.00295	0.019747952	0.00512	0.022761233	0.00295	-4.391	0.29435	T	.	.	0.079	0.10835	B	.;.	.;.	0.196669	0.05823	2.262	0.96162025539783935	0.28902	0.00782	0.03209	N	AEFDGBI	0.038918	0.05578	N	-1.02193419960771	0.08150	0.3811147	-1.04686715443177	0.08772	0.4329552	0.988098521994974	0.31417	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.31	0.148	0.14137	-0.133000	0.10430	-6.868000	0.01286	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3674:0.0:0.6326	6.051	0.19012	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001520	0.005263	0.001370	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	898.33	33	chr9	137373511	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=712;ExcessHet=0;FS=5.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.357;SOR=0.777	GT:AD:DP:GQ:PL	0/1:29,30:59:99:912,0,638	18	0	1	0
chr9	137495101	137495101	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon18:c.G1984A:p.V662I,PNPLA7:NM_001098537:exon19:c.G2059A:p.V687I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0163806547082	.	0.000998403	0.0006	0	0	0.0012	0	0	0	0.0036	0.0004981	77	154602	rs534772592	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0.0005	0	0	5.399e-06	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0035	9.736e-05	8.251e-05	0.0022	0.0018	4.809e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0035	0.221	0.18889	T	0.165	0.31730	T	0.734	0.42776	P	0.19	0.36341	B	0.000804	0.41658	N	0.203312	0.633987	0.54805	D	1.33	0.33268	L	-3.15	0.92938	D	-0.66	0.19085	N	0.107	0.13198	-0.3684	0.73010	T	0.534	0.82728	D	10	0.0121332705	0.00262	T	0.016381	0.37609	T	0.321	0.64318	0.362	0.36711	0.166414681773	0.16258	0.46760351748575724	0.46679	0.182014968346	0.20459	0.447243601084	0.31568	T	0.230829	0.59699	T	-0.323156	0.06642	T	-0.240332	0.50766	T	0.0362492740060078	0.03025	T	0.927307	0.73215	D	0.017408766	0.00270	0.051656477	0.08358	0.017408766	0.00270	0.051656477	0.08357	-7.13	0.55366	T	.	.	0.068	0.06159	B	.;.	.;.	1.086971	0.14705	11.25	0.95008459294798353	0.25977	0.62108	0.31682	D	AEFDBI	0.116359	0.22840	N	-0.922663378501381	0.10313	0.4922331	-0.957093102993382	0.10758	0.5439375	0.816841863747361	0.24453	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.65	-0.635	0.10934	3.172000	0.50532	-0.205000	0.10907	-0.961000	0.01979	0.994000	0.38300	0.000000	0.08366	0.011000	0.09372	0.1338:0.5346:0.0:0.3316	5.395	0.15564	994	0.00715	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2369.33	37	chr9	137495101	.	C	T	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=868;ExcessHet=0;FS=1.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.57;SOR=0.866	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1363	18	0	1	0
chr9	137497206	137497206	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon17:c.G1919A:p.R640Q,PNPLA7:NM_001098537:exon18:c.G1994A:p.R665Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.280092052912	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs755074543	4.885e-06	1.026e-05	6.929e-06	2.812e-06	1.225e-05	2.03e-06	1.31e-06	1.33e-06	9.7e-07	0	0	0	0	0	0	4.548e-06	1.688e-05	1.225e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	-3.07	0.92508	D	-2.89	0.60665	D	0.68	0.68690	0.682	0.92947	D	0.821	0.93994	D	10	0.88906217	0.88243	D	0.280092	0.90199	D	0.702	0.89284	0.538	0.64874	0.631521412514	0.62851	0.6483750606235364	0.64773	0.75264742166	0.63853	0.571888923645	0.48945	T	0.507143	0.82502	D	0.148023	0.69083	D	-0.0251522	0.68690	D	0.987282991409302	0.77810	D	0.994238	0.98092	D	0.4286079	0.62661	0.33260092	0.59106	0.4286079	0.62661	0.33260092	0.59106	-9.473	0.70840	D	.	.	0.245	0.59893	B	.;.	.;.	3.702871	0.52822	23.3	0.99928796478453707	0.99222	0.94805	0.62390	D	AEFDGB	0.791985	0.72041	D	0.439541694933995	0.63611	4.598383	0.368823932905209	0.59649	4.144638	0.999999999846372	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.32	4.32	0.50899	5.806000	0.68817	5.565000	0.48927	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:1.0:0.0:0.0	16.135	0.81287	994	0.00715	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	33	chr9	137497206	.	C	T	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.1;SOR=0.709	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1287	18	0	1	0
chr9	137555240	137555240	C	G	exonic	DPH7	.	stoploss	DPH7:NM_001346373:exon7:c.G956C:p.X319S,DPH7:NM_001346396:exon7:c.G764C:p.X255S,DPH7:NM_001346370:exon8:c.G1292C:p.X431S,DPH7:NM_001346375:exon8:c.G830C:p.X277S,DPH7:NM_001346384:exon8:c.G830C:p.X277S,DPH7:NM_001346385:exon8:c.G830C:p.X277S,DPH7:NM_001346386:exon8:c.G830C:p.X277S,DPH7:NM_001346388:exon8:c.G830C:p.X277S,DPH7:NM_001346392:exon8:c.G830C:p.X277S,DPH7:NM_001346393:exon8:c.G764C:p.X255S,DPH7:NM_001346382:exon9:c.G830C:p.X277S,DPH7:NM_001346383:exon9:c.G830C:p.X277S,DPH7:NM_001346387:exon9:c.G830C:p.X277S,DPH7:NM_001346394:exon9:c.G764C:p.X255S,DPH7:NM_001346395:exon9:c.G764C:p.X255S,DPH7:NM_138778:exon9:c.G1358C:p.X453S,DPH7:NM_001346376:exon10:c.G830C:p.X277S,DPH7:NM_001346377:exon10:c.G830C:p.X277S,DPH7:NM_001346378:exon10:c.G830C:p.X277S,DPH7:NM_001346381:exon10:c.G830C:p.X277S,DPH7:NM_001346389:exon10:c.G830C:p.X277S,DPH7:NM_001346391:exon10:c.G830C:p.X277S,DPH7:NM_001346379:exon11:c.G830C:p.X277S,DPH7:NM_001346380:exon11:c.G830C:p.X277S,DPH7:NM_001346390:exon11:c.G830C:p.X277S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.426677	0.01552	T	-0.850668	0.00951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.153732	0.03334	0.585	0.61484606838872835	0.06721	0.13490	0.17885	N	AEFDGBHCI	.	.	.	0.145153732930948	0.48582	3.068773	-0.246384029755737	0.29896	1.678709	0.999639931447616	0.41205	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	0.148143	0.27250	4.74	0.684	0.17167	0.001000	0.12940	-0.242000	0.10582	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.1318:0.5057:0.1287:0.2339	2.349	0.04017	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	399.33	35	chr9	137555240	.	C	G	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=657;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.184;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	18	0	1	0
chr9	137614757	137614757	G	A	exonic	ARRDC1	.	nonsynonymous SNV	ARRDC1:NM_001317968:exon7:c.G994A:p.V332I,ARRDC1:NM_152285:exon7:c.G994A:p.V332I	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00584148309391	0.0017	0.000199681	0.0030	0.0002	0.0004	0	0.0044	0.0049	0	0.0002	0.0026972	417	154602	rs151308611	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0003	0.0008	0.0029	0	0.0039	0.0017	0.0029	0.0022	0.0002	0.0017	0.0017	0.0019	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0004	0	0.0001	0.0023	0	0.0035	0	0.0028	0.0024	0.0004	0.371	0.11514	T	0.585	0.08361	T	0.032	0.20242	B	0.003	0.08700	B	0.184703	0.03207	N	1.610930	1	0.08975	N	2.015	0.55033	M	2.68	0.12371	T	-0.37	0.13226	N	0.098	0.07949	-0.9691	0.37386	T	0.032	0.13898	T	10	0.0038244426	0.00072	T	0.005841	0.15191	T	0.084	0.24469	.	.	0.166414681773	0.16258	0.17705785318992104	0.17624	0.104261444909	0.11793	0.411825895309	0.26708	T	0.00463	0.04039	T	-0.647301	0.00075	T	-0.7031	0.05659	T	0.0104148889853448	0.00143	T	0.644036	0.25562	T	0.027199766	0.01878	0.041267592	0.04651	0.027199766	0.01878	0.041267592	0.04650	-4.591	0.32058	T	.	.	0.076	0.05800	B	.	.	1.275312	0.16744	12.74	0.80400701352010906	0.13185	0.78000	0.38420	D	ALL	0.203892	0.33037	N	-0.563206707845845	0.20071	1.055403	-0.531152498432745	0.21310	1.152146	0.999999977421507	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.636168	0.56350	0	.	.	5.04	3.2	0.35826	4.007000	0.56808	1.127000	0.24293	0.675000	0.71128	0.998000	0.41325	0.011000	0.20116	0.127000	0.19450	0.1556:0.0:0.8444:0.0	10.831	0.45861	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1794.33	35	chr9	137614757	.	G	A	1794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=893;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.036;SOR=0.625	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/0:40,0:66:99:586,706,1898	14	0	5	0
chr9	138049278	138049278	A	G	exonic	CACNA1B	.	nonsynonymous SNV	CACNA1B:NM_000718:exon24:c.A3673G:p.I1225V,CACNA1B:NM_001243812:exon24:c.A3673G:p.I1225V	.	415	1102	5	0	0	5	0.00226347	.	.	.	723504	not_provided|Neurodevelopmental_disorder_with_seizures_and_nonepileptic_hyperkinetic_movements	MedGen:C3661900|MONDO:MONDO:0032784,MedGen:C5193128,OMIM:618497	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.483	.	.	0.00479233	0.0028	0.0001	8.646e-05	0	0	2.997e-05	0.0089	0.0199	0.0024385	377	154602	rs200164302	0.0011	0.0011	0.0006	0.0016	0.0176	0.0011	0.0010	0.0168	0.0165	2.988e-05	4.472e-05	0	0.0001	0	0.0007	2.879e-05	0.0008	0.0176	0.0006	0.0006	0.0003	0.0010	0.0189	0.0005	0.0005	0.0157	0.0146	0	0	0.0003	0	0	0	0	1.47e-05	0	0.0189	0.534	0.06935	T	0.473	0.12316	T	0.561	0.38362	P	0.678	0.53406	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.045	0.04980	N	-4.85	0.98245	D	-0.76	0.21215	N	0.331	0.44187	0.573	0.91543	D	0.865	0.95492	D	10	0.010905832	0.00241	T	.	.	.	0.483	0.77271	0.598	0.72862	0.697160472205	0.69454	0.7219969112671382	0.72143	0.752973457457	0.63868	0.816908121109	0.84554	D	0.596781	0.87018	D	-0.229825	0.16673	T	-0.0873089	0.64364	T	0.0339205168842166	0.02624	T	0.789921	0.43036	T	0.13312837	0.30975	0.14906323	0.35210	0.10892519	0.25753	0.12342605	0.29761	-8.997	0.68305	D	.	.	0.100	0.21125	B	.;.;.;.;.;.	.;.;.;.;.;.	3.318358	0.45624	22.2	0.96709896358550784	0.30807	0.95956	0.66886	D	AEFDBI	0.833102	0.75137	D	-0.103331022044878	0.37247	2.164311	0.0399256365259845	0.41589	2.501013	0.835166819472008	0.24765	0.514905	0.20481	0	0.59043	0.45803	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.13	3.96	0.45097	5.184000	0.64908	3.571000	0.39123	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9232:0.0:0.0767:0.0	10.755	0.45429	988	0.01987	.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1671.33	34	chr9	138049278	.	A	G	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.958;DP=811;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.665;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1401	18	0	1	0
chr10	47460	47460	A	C	exonic	TUBB8	.	nonsynonymous SNV	TUBB8:NM_177987:exon4:c.T932G:p.L311R	Oocyte maturation defect 2, Autosomal recessive, Autosomal dominant	13	1501	8	0	0	8	0.00265781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	.	.	.	0.0024	0.0001	0	0.0001	0	0	0	0.0170	3.84e-05	1	26028	rs368079015	5.628e-05	0.0010	3.275e-05	8.01e-05	0.0010	4.625e-05	4.25e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	1.663e-05	0.0010	5.254e-05	0.0002	3.855e-05	6.718e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.983	0.75793	D	0.000150	0.49130	U	0.000000	0.936119	0.81001	D	.	.	.	-2.65	0.90210	D	-4.53	0.78388	D	0.797	0.80572	0.633	0.92322	D	0.894	0.96472	D	9	0.07026917	0.10200	T	.	.	.	.	.	0.76	0.88892	0.885216199105	0.88409	0.9745826639807273	0.97448	.	.	0.763700723648	0.76481	T	0.75176	0.93203	D	0.302781	0.83191	D	0.197148	0.82972	D	0.585812032222748	0.35842	D	0.845515	0.52437	T	0.95823085	0.97102	0.7502274	0.85236	0.95823085	0.97102	0.7502274	0.85237	-13.364	0.90807	D	0.937372912338633	0.97552	0.960	0.89526	P	.;.;.	.;.;.	2.418890	0.31099	18.64	0.80361286872955306	0.13167	0.88853	0.48984	D	AEFBI	0.461034	0.51097	N	0.174478432582378	0.49977	3.192222	-0.221296756965285	0.30773	1.73563	6.98859253090987E-4	0.07645	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	6.580000	0.73930	11.052000	0.85313	0.300000	0.18932	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.9994:0.0:6.0E-4:0.0	4.549	0.11498	.	.	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001594	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.003817	0.02632	142.33	36	chr10	47460	.	A	C	142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.759;DP=948;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.35;MQRankSum=-6.652;QD=1.17;ReadPosRankSum=0.682;SOR=0.884	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1491	18	0	1	0
chr10	364554	364554	G	A	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon20:c.C2297T:p.P766L	.	425	1095	2	0	0	2	0.000912409	.	.	.	2113165	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	0.0142347444763	.	.	6.623e-05	0	0	0.0003	0	0	0	0.0003	5.17e-05	8	154602	rs756599363	2.805e-05	2.873e-05	1.906e-05	3.713e-05	0.0001	2.087e-05	1.878e-05	4.907e-05	3.165e-05	0.0001	2.236e-05	0	0.0001	1.874e-05	0	1.709e-05	6.623e-05	8.116e-05	4.6e-05	4.597e-05	3.854e-05	5.382e-05	0.0002	2.11e-05	1.527e-05	1.921e-05	1.032e-05	7.243e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	0.085	0.32769	T	0.148	0.32675	T	0.034	0.20480	B	0.072	0.28043	B	0.000001	0.84330	D	0.055424	1	0.81001	D	1.565	0.39561	L	1.62	0.28189	T	-5.85	0.88495	D	0.46	0.58287	-0.8339	0.53048	T	0.170	0.51069	T	10	0.30826235	0.48323	T	0.014235	0.34223	T	0.239	0.54358	0.509	0.60540	0.0675242888579	0.06100	0.7585018992873022	0.75798	0.800391264959	0.66211	0.622244119644	0.56046	T	0.223667	0.58789	T	-0.316442	0.07194	T	-0.427895	0.30173	T	0.189791797136057	0.19832	T	0.928707	0.73770	D	0.22213805	0.44806	0.27554426	0.53492	0.22213805	0.44806	0.27554426	0.53491	-7.913	0.60476	D	.	.	0.072	0.04889	B	.;.;.	.;.;.	3.686185	0.52496	23.2	0.96889493536271176	0.31492	0.99070	0.90786	D	AEFDBI	0.660663	0.63115	D	0.0775283866188559	0.45414	2.798485	0.156969510215979	0.47512	2.980342	0.999993937345593	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	6.828000	0.75100	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.970	0.92688	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2046.33	34	chr10	364554	.	G	A	2046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.356;SOR=0.744	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1477	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:97,32:129:99:240,0,1805	2	0	17	0
chr10	1363689	1363689	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.G416A:p.G139D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.0630801424504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.378e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.047	0.48855	D	0.733	0.42736	P	0.697	0.54061	P	0.000067	0.52346	N	0.201187	0.999999	0.58761	D	1.755	0.45626	L	-1.01	0.76168	T	-5.61	0.86686	D	0.488	0.52208	-0.1447	0.79049	T	0.456	0.78814	T	10	0.47647014	0.60173	T	0.06308	0.68856	D	0.531	0.80247	0.526	0.63115	0.492909346147	0.48925	0.6571295275684129	0.65649	1.45200276733	0.86181	0.65917289257	0.61290	T	0.299865	0.67238	T	0.0443498	0.57612	T	-0.174071	0.57071	T	0.989193022251129	0.79445	D	0.90401	0.66351	D	0.48050758	0.65931	0.45255473	0.68156	0.48050758	0.65932	0.45255473	0.68156	-13.504	0.91332	D	.	.	0.411	0.60177	A	.	.	4.139662	0.62006	24.4	0.99813203878151313	0.89708	0.85521	0.44662	D	AEFBCI	0.618316	0.60417	D	0.358054101522607	0.59167	4.093821	0.376447239145124	0.60115	4.195748	0.987503739046566	0.31281	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.14	4.24	0.49486	4.874000	0.62758	5.954000	0.51702	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8459:0.0:0.1541	10.062	0.41455	934	0.15400	Double-stranded RNA-binding domain|Double-stranded RNA-binding domain|Double-stranded RNA-binding domain|Double-stranded RNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2157.33	33	chr10	1363689	.	C	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=869;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.539;SOR=0.794	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2171,0,2072	18	0	1	0
chr10	1363834	1363834	C	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.G271A:p.G91S	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0121805	0.0148	0.0019	0.0309	0.0933	0.0608	0.0036	0.0151	0.0015	0.0065588	1014	154602	rs3750673	0.0034	0.0036	0.0035	0.0034	0.0568	0.0033	0.0033	0.0548	0.0540	0.0003	0.0134	0.0081	0.0568	0.0272	0.0011	0.0005	0.0053	0.0019	0.0056	0.0057	0.0040	0.0073	0.0554	0.0053	0.0052	0.0502	0.0481	0.0006	0	0.0038	0.0081	0.0554	0.0340	0	0.0012	0.0019	0.0031	0.09	0.31987	T	0.429	0.13752	T	0.006	0.13644	B	0.005	0.11217	B	0.026363	0.25931	N	0.435765	1	0.08975	N	2.14	0.59869	M	1.93	0.22881	T	-1.75	0.41428	N	0.125	0.11769	-1.0547	0.13119	T	0.009	0.03359	T	10	0.0018898547	0.00026	T	.	.	.	0.022	0.04323	.	.	.	.	0.1614364048257781	0.16064	0.85957541959	0.68897	0.351065099239	0.18079	T	0.028487	0.20623	T	-0.660718	0.00062	T	-0.67629	0.07212	T	0.0070833988363616	0.00081	T	0.467153	0.13745	T	0.037960928	0.04967	0.05117929	0.08186	0.037960928	0.04967	0.05117929	0.08185	-4.582	0.31945	T	.	.	0.085	0.09965	B	.	.	0.613520	0.09819	6.584	0.92013460640560762	0.21350	0.13540	0.17914	N	AEFDBCI	0.133651	0.25339	N	-1.13026609352469	0.06111	0.2804296	-1.17397948519098	0.06348	0.3052488	0.10143755251586	0.16378	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.95	0.995	0.18956	1.228000	0.32190	2.101000	0.30604	-2.543000	0.00250	0.000000	0.06391	0.082000	0.22400	0.002000	0.04165	0.0:0.6619:0.1255:0.2126	6.93	0.23615	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003061	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.007576	0.02632	1569.33	33	chr10	1363834	.	C	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.243;SOR=0.687	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,110,1649	18	0	1	0
chr10	3129913	3129913	-	G	exonic	PFKP	.	frameshift insertion	PFKP:NM_001323070:exon11:c.978dupG:p.L329Afs*6,PFKP:NM_001323074:exon12:c.1131dupG:p.L380Afs*6,PFKP:NM_001323073:exon13:c.1131dupG:p.L380Afs*6,PFKP:NM_001323068:exon16:c.1626dupG:p.L545Afs*6,PFKP:NM_001323067:exon17:c.1698dupG:p.L569Afs*6,PFKP:NM_001323069:exon17:c.1272dupG:p.L427Afs*6,PFKP:NM_001345944:exon17:c.1665dupG:p.L558Afs*6,PFKP:NM_002627:exon17:c.1779dupG:p.L596Afs*6,PFKP:NM_001323071:exon18:c.1665dupG:p.L558Afs*6,PFKP:NM_001323072:exon18:c.1665dupG:p.L558Afs*6,PFKP:NM_001242339:exon19:c.1755dupG:p.L588Afs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.932e-05	0.0002	0	0	0.0004	0	0	3.84e-05	1	26028	rs778076670	2.946e-05	0.0001	2.999e-05	2.893e-05	6.737e-05	2.22e-05	1.973e-05	1.787e-05	1.031e-05	2.991e-05	6.737e-05	0	2.524e-05	0.0003	0	1.89e-05	0	1.161e-05	4.605e-05	4.598e-05	5.144e-05	4.04e-05	0.0003	2.111e-05	1.528e-05	8.879e-05	5.388e-05	4.832e-05	0	0.0003	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1321.29	100	chr10	3129913	.	T	TG	1321.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=1445;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.405;SOR=0.651	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr10	3140811	3140811	G	A	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon21:c.C2353T:p.L785F,PITRM1:NM_001347725:exon22:c.C2449T:p.L817F,PITRM1:NM_001347726:exon22:c.C1834T:p.L612F,PITRM1:NM_001347730:exon22:c.C2425T:p.L809F,PITRM1:NM_001242307:exon24:c.C2650T:p.L884F,PITRM1:NM_001347727:exon24:c.C2032T:p.L678F,PITRM1:NM_001347728:exon24:c.C1342T:p.L448F,PITRM1:NM_001347729:exon24:c.C2623T:p.L875F,PITRM1:NM_014889:exon24:c.C2647T:p.L883F	.	434	1085	3	0	0	3	0.00138058	0.6828	0.536	.	672079	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.523	.	0.0072	0.00419329	0.0120	0.0016	0.0108	0	0.0290	0.0174	0.0114	0.0025	0.0061189	946	154602	rs71477812	0.0084	0.0085	0.0087	0.0081	0.0089	0.0083	0.0082	0.0087	0.0086	0.0012	0.0064	0.0131	0	0.0190	0.0058	0.0089	0.0092	0.0019	0.0073	0.0073	0.0069	0.0076	0.0097	0.0069	0.0068	0.0090	0.0088	0.0015	0.0033	0.0077	0.0127	0.0002	0.0176	0.0170	0.0097	0.0085	0.0021	0.009	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.66	0.94269	H	0.97	0.42502	T	-3.79	0.71639	D	0.792	0.84401	-0.3594	0.73281	T	0.213	0.57334	T	10	0.008331448	0.00189	T	.	.	.	0.523	0.79765	.	.	0.683458661421	0.68076	0.8327730679768833	0.83236	0.339464585758	0.35895	0.579679191113	0.50040	T	0.086308	0.44555	T	-0.0464113	0.44989	T	0.171588	0.81504	D	0.050278209372327	0.05550	T	0.937606	0.76517	D	0.7829275	0.82834	0.75733316	0.85660	0.7829275	0.82836	0.75733316	0.85661	-11.318	0.81495	D	.	.	0.409	0.72034	A	.;.;.;.;.	.;.;.;.;.	4.621916	0.73395	26.0	0.99852956060718423	0.93191	0.93696	0.58930	D	AEFBCI	0.846966	0.76383	D	0.719201602175365	0.80892	7.395948	0.606618945938249	0.75419	6.307288	0.999988590574643	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	7.380000	0.78983	11.661000	0.93987	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	19.220	0.93778	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	rs71477812	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012170	0.031250	0.014986	0.002924	0.000000	0.000000	0.006135	0.007634	0.02632	833.33	34	chr10	3140811	.	G	A	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.651;DP=686;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.937;SOR=0.37	GT:AD:DP:GQ:PL	0/1:32,34:66:99:847,0,789	18	0	1	0
chr10	4830696	4830696	G	A	exonic	AKR1E2	.	nonsynonymous SNV	AKR1E2:NM_001040177:exon2:c.G61A:p.E21K,AKR1E2:NM_001271021:exon2:c.G61A:p.E21K,AKR1E2:NM_001271025:exon2:c.G61A:p.E21K	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0004	0.00219649	0.0020	0.0003	0.0005	0	0.0005	0.0006	0.0011	0.0117	0.0017529	271	154602	rs111857204	0.0011	0.0011	0.0008	0.0014	0.0113	0.0010	0.0010	0.0107	0.0105	0.0004	0.0004	0	0	0.0003	0.0055	0.0004	0.0013	0.0113	0.0007	0.0007	0.0005	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	7.22e-05	0	0.0001	0	0	0.0002	0.0034	0.0006	0.0005	0.0118	0.044	0.53172	D	0.094	0.49663	T	0.535	0.37805	P	0.229	0.38155	B	0.026722	0.25870	N	0.401767	0.98285	0.24931	N	0.36	0.11994	N	0.7	0.51474	T	-3.04	0.62863	D	0.314	0.41754	-1.0313	0.20034	T	0.063	0.26244	T	10	0.009253293	0.00209	T	.	.	.	0.059	0.16972	.	.	0.410734915765	0.40690	0.6114099410288499	0.61072	0.124813072695	0.14060	0.333933621645	0.15526	T	0.029026	0.23939	T	-0.486097	0.00683	T	-0.460633	0.26530	T	0.0231504563305682	0.01041	T	0.905209	0.66592	D	0.31343952	0.54082	0.19461846	0.43094	0.31343952	0.54082	0.19461846	0.43093	-6.474	0.53946	T	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	1.899211	0.24122	16.28	0.99441545312632951	0.64770	0.62896	0.31921	D	AEFDBI	0.157981	0.28357	N	-0.676103376624	0.16704	0.8533712	-0.753676146922622	0.15632	0.8231046	0.99995716506675	0.48110	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	-1.24	0.08948	2.088000	0.41287	0.692000	0.20773	0.588000	0.31329	0.468000	0.26706	0.107000	0.22748	0.511000	0.29267	0.3675:0.1488:0.4838:0.0	5.023	0.13712	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	544.33	41	chr10	4830696	.	G	A	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.734;DP=683;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=2.38;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr10	4963511	4963511	A	C	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon1:c.A67C:p.T23P	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0038472024217	0.0002	0.000399361	0.0002	0	8.64e-05	0	0	0.0004	0	0.0002	0.0002264	35	154602	rs200972237	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	5.617e-05	0.0009	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.842e-05	0	0	0	0	0	0	0.0005	0	0	0.0	0.91255	D	0.0	0.92824	D	0.398	0.34801	B	0.465	0.46596	P	0.000018	0.62929	D	0.000000	0.608687	0.32602	D	4.52	0.99038	H	1.18	0.37746	T	-5.48	0.85692	D	0.59	0.61002	-0.5191	0.67947	T	0.203	0.55989	T	10	0.30539104	0.48056	T	0.003847	0.09024	T	0.244	0.55061	.	.	0.383921772103	0.37999	0.7943639314794088	0.79389	0.26189592985	0.28750	.	.	.	0.230523	0.59662	T	-0.141857	0.29595	T	-0.0966061	0.63660	T	0.513270974159241	0.33117	D	0.871013	0.57621	D	0.9850899	0.99473	0.9713172	0.99521	0.9850899	0.99473	0.9713172	0.99521	-12.681	0.88006	D	.	.	0.818	0.78148	P	.	.	4.075172	0.60581	24.2	0.98800026884367931	0.46445	0.98118	0.79751	D	AEFGBHCI	0.652537	0.62590	D	-0.0391411135443243	0.40088	2.374872	-0.200813074144824	0.31508	1.783775	0.999999988498531	0.74766	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	2.46	2.46	0.29032	3.210000	0.50832	8.162000	0.76739	0.560000	0.28382	0.993000	0.37899	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	6.714	0.22482	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1610.33	33	chr10	4963511	.	A	C	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.893;DP=854;ExcessHet=0;FS=6.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.72;MQRankSum=-0.587;QD=11.75;ReadPosRankSum=-1.224;SOR=1.227	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	18	0	1	0
chr10	4968379	4968379	C	T	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon4:c.C440T:p.T147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00219649	0.0029	0	0.0013	0.0257	0	5.079e-05	0	0.0009	0.0005379	14	26028	rs540512862	0.0004	0.0004	0.0004	0.0004	0.0114	0.0004	0.0004	0.0105	0.0102	3.054e-05	4.729e-05	0	0.0114	1.917e-05	0	5.751e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	0.0119	0.0004	0.0004	0.0095	0.0086	2.43e-05	0	6.596e-05	0	0.0119	0	0	7.377e-05	0	0.0009	0.02	0.50676	D	0.014	0.62352	D	0.895	0.49247	P	0.673	0.53214	P	0.000004	0.62929	D	0.000000	0.99951	0.21065	N	2.64	0.77224	M	1.83	0.24841	T	-4.84	0.81269	D	0.513	0.54845	-1.0474	0.15130	T	0.094	0.35658	T	10	0.015684009	0.00329	T	.	.	.	0.146	0.38789	.	.	0.209622950755	0.20551	0.5882898614366775	0.58758	0.194642975609	0.21805	.	.	.	0.142634	0.47832	T	-0.406901	0.02084	T	-0.344938	0.39784	T	0.168300464092724	0.18464	T	0.824917	0.48720	T	0.7257572	0.79484	0.55509424	0.74268	0.7257572	0.79485	0.55509424	0.74268	-7.683	0.58889	D	.	.	0.527	0.69832	A	.;.	.;.	2.514699	0.32483	19.06	0.97568028460474721	0.34664	0.61711	0.31565	D	AEFDBI	0.328539	0.42917	N	-0.0612525697599888	0.39100	2.300525	-0.252027765433772	0.29701	1.666184	0.999800876762638	0.43304	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	2.63	1.7	0.23359	3.968000	0.56516	-0.569000	0.08436	0.449000	0.21268	0.994000	0.38300	0.000000	0.08366	0.161000	0.20682	0.0:0.8541:0.0:0.1459	7.223	0.25175	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000578	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1147.33	45	chr10	4968379	.	C	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.06;DP=747;ExcessHet=0;FS=2.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.07;MQRankSum=-1.559;QD=14.16;ReadPosRankSum=0.307;SOR=0.424	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1363:.	18	0	1	0
chr10	5097545	5097545	C	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon3:c.C364G:p.L122V,AKR1C3:NM_001253909:exon3:c.C364G:p.L122V,AKR1C3:NM_003739:exon3:c.C364G:p.L122V	.	15	1506	1	0	0	1	0.000331895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00295155213949	.	0.000998403	0.0006	0	0	0	0	0	0	0.0044	0.0005175	80	154602	rs531233762	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	2.989e-05	2.236e-05	0	2.52e-05	0	0	2.699e-06	0.0003	0.0035	0.0001	0.0001	7.71e-05	0.0001	0.0031	6.508e-05	5.32e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.029	0.45756	D	0.162	0.43159	T	0.005	0.12996	B	0.058	0.26451	B	0.290074	0.14785	N	0.575509	0.999909	0.19694	N	1.435	0.35949	L	1.73	0.26445	T	-2.84	0.59873	D	0.095	0.07535	-1.0312	0.20066	T	0.071	0.29001	T	9	0.009286612	0.00210	T	0.002952	0.06280	T	0.014	0.01968	0.566	0.68768	0.171388866994	0.16791	0.16816016748662618	0.16736	0.0119562494759	0.01133	0.213865950704	0.00987	T	0.012944	0.35052	T	-0.587419	0.00174	T	-0.616708	0.11445	T	0.0179909393808742	0.00524	T	0.641836	0.28733	T	0.29701713	0.52635	0.15064146	0.35518	0.29701713	0.52635	0.15064146	0.35518	-5.912	0.45537	T	.	.	0.156	0.36594	B	.;.;.;.	.;.;.;.	-0.518671	0.01808	0.141	0.86491336983057399	0.16572	0.02694	0.07335	N	AEFBI	0.147679	0.27140	N	-1.22754093984001	0.04604	0.2081488	-1.36342369449095	0.03650	0.1707083	0.999790288506094	0.43153	0.706298	0.61202	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.62	-2.51	0.05996	-1.247000	0.03004	-20.000000	0.00162	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.5889:0.2663:0.0:0.1449	3.961	0.08906	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4295.81	41	chr10	5097545	.	C	G	4295.81	.	AC=2;AF=0.053;AN=38;DP=1096;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.59;SOR=0.953	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	1	0	0
chr10	5499368	5499368	C	T	exonic	CALML5	.	nonsynonymous SNV	CALML5:NM_017422:exon1:c.G71A:p.G24E	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0445709014713	.	.	3.295e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs778701515	2.189e-05	2.189e-05	9.529e-06	3.438e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0	8.993e-07	6.624e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	0.037	0.20876	B	0.044	0.24394	B	0.585670	0.05562	N	1.245670	1	0.08975	N	2.745	0.80253	M	-0.83	0.74159	T	-4.42	0.77470	D	0.145	0.14622	-0.7065	0.60125	T	0.320	0.68925	T	10	0.24169782	0.41352	T	0.044571	0.61557	D	0.192	0.47115	0.75	0.88071	0.558904749205	0.55551	0.7901136118605844	0.78963	0.707574889202	0.61497	0.337554901838	0.16071	T	0.315979	0.68755	T	-0.328274	0.06242	T	-0.417171	0.31400	T	0.815112829208374	0.47414	D	0.549145	0.18877	T	0.45973465	0.64654	0.46438727	0.68912	0.45973465	0.64655	0.46438727	0.68912	-9.726	0.72255	D	.	.	0.379	0.58363	A	.	.	1.203941	0.15965	12.22	0.76044116947005824	0.11311	0.11108	0.16413	N	AEFDBI	0.077064	0.15519	N	-1.14789165494389	0.05814	0.2660579	-1.28831026643129	0.04588	0.21675	0.998288137559817	0.36695	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.49	-4.2	0.03562	1.187000	0.31699	-0.282000	0.10261	-0.817000	0.03001	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.0:0.3082:0.2523:0.4394	5.510	0.16167	794	0.45591	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1490.33	39	chr10	5499368	.	C	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.685;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.865;SOR=0.706	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	0	1	0
chr10	5730957	5730957	A	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A958T:p.T320S,TASOR2:NM_001321783:exon12:c.A958T:p.T320S,TASOR2:NM_001321784:exon12:c.A958T:p.T320S,TASOR2:NM_001321785:exon12:c.A958T:p.T320S	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0393	0.0101357	1567	154602	rs75514089	0.0077	0.0077	0.0069	0.0085	0.0354	0.0076	0.0075	0.0344	0.0339	0.0010	0.0032	0.0021	0.0269	0.0040	0.0239	0.0055	0.0077	0.0354	0.0061	0.0061	0.0054	0.0069	0.0447	0.0058	0.0057	0.0399	0.0380	0.0009	0	0.0071	0.0017	0.0297	0.0034	0.0408	0.0049	0.0137	0.0447	0.025	0.47320	D	0.233	0.24913	T	0.908	0.50127	P	0.265	0.39681	B	0.053535	0.22801	N	0.412660	0.995455	0.23286	N	2.05	0.56469	M	3.37	0.05847	T	-1.63	0.39119	N	0.042	0.01498	-0.9833	0.34234	T	0.007	0.02244	T	10	0.002374202	0.00035	T	.	.	.	0.048	0.13305	0.17	0.07536	.	.	0.18643416496702264	0.18561	0.112515022476	0.12700	0.331965386868	0.15231	T	0.043159	0.26414	T	-0.582292	0.00187	T	-0.581335	0.14426	T	0.0185138360721952	0.00567	T	0.689931	0.29934	T	0.069741756	0.15305	0.07706346	0.17132	0.069741756	0.15304	0.07706346	0.17132	-3.456	0.15821	T	.	.	0.164	0.36174	B	.;.	.;.	0.972512	0.13494	10.02	0.98068335027966003	0.38007	0.44859	0.27411	N	AEFBI	0.100182	0.20150	N	-0.0319300939089918	0.40413	2.399544	-0.0686356647124625	0.36694	2.138806	0.300915206058487	0.19188	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	3.25	0.36363	0.227000	0.17575	3.239000	0.36954	0.756000	0.94297	0.001000	0.13787	0.985000	0.30750	0.965000	0.52897	0.6742:0.1604:0.1654:0.0	4.811	0.12710	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	2147.33	35	chr10	5730957	.	A	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=781;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.957;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr10	5747062	5747062	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C3398T:p.T1133I,TASOR2:NM_017782:exon15:c.C3641T:p.T1214I,TASOR2:NM_001321783:exon16:c.C3641T:p.T1214I,TASOR2:NM_001321784:exon16:c.C3641T:p.T1214I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00391211651087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.049	0.48336	D	0.001	0.07471	B	0.001	0.04355	B	0.565113	0.05447	N	1.250720	1	0.08975	N	0.97	0.24054	L	3.58	0.04594	T	-1.36	0.33798	N	0.037	0.01135	-0.9304	0.44080	T	0.015	0.05897	T	10	0.092707425	0.16346	T	0.003912	0.09211	T	0.029	0.06676	0.209	0.12639	0.043077524339	0.03247	0.15548018454177695	0.15469	0.0460939368273	0.05010	0.220497637987	0.01339	T	0.004207	0.03621	T	-0.41646	0.01802	T	-0.835992	0.01161	T	0.0236967041714846	0.01107	T	0.449255	0.12651	T	0.03548702	0.04187	0.033117417	0.02154	0.03548702	0.04187	0.033117417	0.02154	-4.09	0.25142	T	.	.	0.124	0.30945	B	.;.	.;.	0.341142	0.07149	3.729	0.96865607967595047	0.31400	0.09727	0.15418	N	AEFBCI	0.027364	0.02221	N	-0.905147437174654	0.10721	0.513697	-0.982051384858412	0.10188	0.5115682	0.124510122718908	0.16959	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	-1.31	0.08749	0.443000	0.21360	0.047000	0.13948	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2809:0.4743:0.0:0.2449	3.9	0.08660	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1745.33	41	chr10	5747062	.	C	T	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.545;DP=1722;ExcessHet=0;FS=2.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.26;SOR=0.497	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr10	5747455	5747455	T	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.T3791G:p.V1264G,TASOR2:NM_017782:exon15:c.T4034G:p.V1345G,TASOR2:NM_001321783:exon16:c.T4034G:p.V1345G,TASOR2:NM_001321784:exon16:c.T4034G:p.V1345G	.	437	1066	19	0	0	19	0.0088331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0394	0.0101486	1569	154602	rs76183460	0.0077	0.0077	0.0069	0.0086	0.0355	0.0076	0.0075	0.0344	0.0340	0.0010	0.0032	0.0021	0.0270	0.0040	0.0238	0.0055	0.0077	0.0355	0.0061	0.0061	0.0054	0.0069	0.0449	0.0058	0.0057	0.0400	0.0382	0.0009	0	0.0072	0.0017	0.0297	0.0034	0.0408	0.0049	0.0142	0.0449	0.0	0.91255	D	0.002	0.79402	D	0.099	0.25639	B	0.025	0.20508	B	0.593460	0.11027	N	0.776677	0.999996	0.08975	N	1.59	0.40313	L	3.27	0.06602	T	-2.18	0.49187	N	0.089	0.06720	-0.9771	0.35660	T	0.007	0.02244	T	10	0.002009362	0.00028	T	.	.	.	0.026	0.05648	.	.	.	.	0.25456966302251127	0.25370	0.100852803616	0.11398	0.278777122498	0.07323	T	0.003533	0.02940	T	-0.566507	0.00232	T	-0.558662	0.16503	T	0.0173739857580772	0.00475	T	0.256074	0.03980	T	0.13050285	0.30450	0.11904356	0.28735	0.13050285	0.30449	0.11904356	0.28734	-3.872	0.21884	T	.	.	0.158	0.35013	B	.;.	.;.	0.958982	0.13353	9.858	0.96301975793306172	0.29351	0.24839	0.22517	N	AEFBCI	0.044183	0.07077	N	-0.875814062018446	0.11420	0.5510038	-0.931147095918016	0.11361	0.5783042	0.992903656263109	0.33012	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.34	1.87	0.24559	0.021000	0.13381	0.249000	0.16404	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2623:0.0:0.7377	5.724	0.17272	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	1233.33	41	chr10	5747455	.	T	G	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.8;DP=1694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.062;SOR=0.664	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr10	5748766	5748766	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5102T:p.T1701I,TASOR2:NM_017782:exon15:c.C5345T:p.T1782I,TASOR2:NM_001321783:exon16:c.C5345T:p.T1782I,TASOR2:NM_001321784:exon16:c.C5345T:p.T1782I	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0043	0.0179712	0.0107	0.0012	0.0032	0.0280	0.0026	0.0049	0.0167	0.0388	0.010181	1574	154602	rs11593253	0.0077	0.0077	0.0068	0.0085	0.0351	0.0075	0.0075	0.0341	0.0336	0.0010	0.0032	0.0021	0.0266	0.0040	0.0239	0.0055	0.0077	0.0351	0.0061	0.0061	0.0054	0.0068	0.0446	0.0057	0.0056	0.0397	0.0378	0.0009	0	0.0071	0.0017	0.0288	0.0034	0.0408	0.0049	0.0137	0.0446	0.018	0.50676	D	0.063	0.45110	T	0.244	0.31025	B	0.047	0.24832	B	0.098691	0.02526	N	1.815620	1	0.08975	N	1.245	0.31408	L	3.62	0.04399	T	-1.22	0.30964	N	0.077	0.05162	-0.9686	0.37489	T	0.004	0.01400	T	10	0.0025873482	0.00039	T	.	.	.	0.031	0.07369	.	.	.	.	0.13360966107473615	0.13284	0.0466299950202	0.05070	0.256282418966	0.04458	T	0.003556	0.02960	T	-0.663613	0.00060	T	-0.69885	0.05888	T	0.00554423586375245	0.00060	T	0.506949	0.16072	T	0.0592729	0.12027	0.057171863	0.10345	0.0592729	0.12027	0.057171863	0.10345	-4.004	0.23864	T	.	.	0.125	0.38281	B	.;.	.;.	1.089395	0.14728	11.28	0.97467160101788519	0.34115	0.15034	0.18711	N	ALL	0.049726	0.08621	N	-0.824205188460949	0.12693	0.6203526	-0.840277522186012	0.13521	0.7018809	0.999999224801115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	2.88	0.32617	0.209000	0.17231	1.134000	0.24350	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1787:0.6488:0.1725:0.0	8.255	0.30908	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	1294.33	56	chr10	5748766	.	C	T	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=818;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.683;SOR=1.105	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr10	6428253	6428253	C	T	exonic	PRKCQ	.	nonsynonymous SNV	PRKCQ:NM_001242413:exon17:c.G1886A:p.R629K,PRKCQ:NM_001282645:exon17:c.G1700A:p.R567K,PRKCQ:NM_001323266:exon17:c.G1700A:p.R567K,PRKCQ:NM_001282644:exon18:c.G1967A:p.R656K,PRKCQ:NM_001323265:exon18:c.G2075A:p.R692K,PRKCQ:NM_006257:exon18:c.G2075A:p.R692K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00664877834895	.	0.000199681	4.942e-05	0	0	0	0	8.99e-05	0	0	4.53e-05	7	154602	rs200838412	4.173e-05	4.173e-05	3.811e-05	4.538e-05	5.974e-05	3.31e-05	3.001e-05	3.804e-05	3.407e-05	5.974e-05	0	0	0	0	0	4.856e-05	8.279e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.572	0.06145	T	1.0	0.02639	T	0.0	0.02946	B	0.0	0.04355	B	0.004025	0.34196	N	0.361069	0.94464	0.26981	N	1.195	0.30194	L	0.12	0.61089	T	-0.63	0.18459	N	0.077	0.07811	-1.0380	0.17924	T	0.081	0.31854	T	10	0.06587961	0.08955	T	0.006649	0.17557	T	0.036	0.09122	.	.	0.408277909041	0.40440	0.5983314243466326	0.59764	0.463009557477	0.45817	0.307067394257	0.11463	T	0.01184	0.38674	T	-0.288033	0.09835	T	-0.465612	0.25990	T	0.0478412620723248	0.05115	T	0.830117	0.50788	T	0.31419683	0.54146	0.13686258	0.32729	0.31419683	0.54146	0.13686258	0.32728	-4.729	0.34835	T	.	.	0.079	0.21353	B	.;.;.;.	.;.;.;.	1.749857	0.22263	15.55	0.85300343761228392	0.15808	0.55513	0.29883	D	AEFCI	0.126206	0.24304	N	-0.553501081816017	0.20375	1.07356	-0.364559675677341	0.26063	1.437181	0.00953452020154112	0.11871	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.56	2.69	0.30923	1.568000	0.36027	2.235000	0.31564	0.599000	0.40250	0.997000	0.40164	0.981000	0.30433	0.877000	0.41881	0.0:0.7184:0.0:0.2816	9.402	0.37603	970	0.06235	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C theta, catalytic domain;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C theta, catalytic domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	33	chr10	6428253	.	C	T	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=705;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.356;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr10	7176091	7176091	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon17:c.G1883A:p.R628Q,SFMBT2:NM_001029880:exon17:c.G1883A:p.R628Q	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00983821609349	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs777488992	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-06	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.984	0.01991	T	0.626	0.07292	T	0.843	0.46605	P	0.119	0.32162	B	0.000383	0.44960	N	0.212871	1	0.08975	N	-0.145	0.04423	N	0.94	0.43672	T	-0.26	0.11185	N	0.341	0.38438	-1.0180	0.24366	T	0.029	0.12453	T	10	0.1481933	0.28068	T	0.009838	0.25653	T	0.116	0.32463	0.391	0.41443	0.082315109003	0.07666	0.31424925016028793	0.31337	0.225021565053	0.25044	0.370731025934	0.20937	T	0.014531	0.12356	T	-0.393147	0.02566	T	-0.633376	0.10161	T	0.172640356818923	0.18758	T	0.855714	0.54342	D	0.024008572	0.01192	0.03745475	0.03401	0.024008572	0.01191	0.03745475	0.03400	-2.489	0.05707	T	.	.	0.072	0.04119	B	.;.	.;.	3.682938	0.52433	23.2	0.75893161625476957	0.11252	0.54058	0.29522	D	AEFDBI	0.143945	0.26678	N	-0.417558624353333	0.24853	1.344946	-0.304887056059175	0.27942	1.554077	0.970864693798234	0.29241	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	3.96	0.45097	2.223000	0.42578	4.053000	0.41524	0.599000	0.40250	0.967000	0.34061	0.999000	0.35428	0.984000	0.60418	0.0:0.7735:0.0:0.2265	8.875	0.34501	966	0.07191	SLED domain;SLED domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	34	chr10	7176091	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.05;DP=798;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=2.18;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1398	18	0	1	0
chr10	7248643	7248643	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon8:c.G877A:p.A293T,SFMBT2:NM_001029880:exon8:c.G877A:p.A293T	.	430	1049	41	2	0	45	0.0209986	.	.	.	724060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0035	0.00459265	0.0053	0.0016	0.0017	0	0.0006	0.0048	0.0078	0.0171	0.0049547	766	154602	rs117741182	0.0036	0.0036	0.0031	0.0041	0.0174	0.0035	0.0035	0.0166	0.0163	0.0008	0.0018	0.0051	2.519e-05	0.0006	0.0168	0.0028	0.0043	0.0174	0.0027	0.0027	0.0025	0.0028	0.0164	0.0025	0.0024	0.0135	0.0124	0.0006	0.0011	0.0020	0.0058	0	0.0005	0.0136	0.0034	0.0038	0.0164	0.421	0.09806	T	0.429	0.13752	T	0.993	0.65571	D	0.889	0.63100	P	0.263242	0.03723	N	1.458410	1	0.81001	D	2.25	0.63811	M	0.92	0.44461	T	-0.81	0.22294	N	0.62	0.63544	-0.8181	0.54053	T	0.206	0.56512	T	10	0.0093427	0.00211	T	.	.	.	0.237	0.54074	.	.	0.193917141947	0.19028	0.3119682848669579	0.31109	0.580245724104	0.53879	0.460799157619	0.33420	T	0.012519	0.10987	T	-0.328422	0.06231	T	-0.230906	0.51684	T	0.0225845717062435	0.00975	T	0.778122	0.41194	T	0.1463249	0.33502	0.096215524	0.22852	0.1463249	0.33502	0.096215524	0.22851	-5.141	0.38336	T	.	.	0.086	0.10691	B	.;.	.;.	3.395496	0.47037	22.4	0.992965443619932	0.58469	0.85763	0.44932	D	AEFDBCI	0.658062	0.62947	D	0.506294479907282	0.67460	5.084768	0.497719078246809	0.67837	5.13802	0.999999940766446	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	4.043000	0.57065	4.877000	0.45627	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.184	0.93622	944	0.12746	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.015152	0.012228	0.008772	0.000000	0.043103	0.018293	0.007576	0.02632	823.33	34	chr10	7248643	.	C	T	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=732;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=0.972;SOR=0.573	GT:AD:DP:GQ:PL	0/1:66,39:105:99:837,0,1558	18	0	1	0
chr10	11755609	11755609	G	A	splicing	ECHDC3	NM_024693:exon4:c.591+1G>A	.	.	.	412	1103	7	0	0	7	0.00316313	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0	0	0	0.0002	0	0.0030	0.0004592	71	154602	rs200347426	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0.0002	0	0	0.0014	7.564e-05	0.0005	0.0030	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.232e-05	0.0011	0.0009	4.811e-05	0	6.535e-05	0	0	0	0.0034	0.0001	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.150078	0.28300	T	0.00765586	0.70832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.531004	0.91870	32	0.97653805563648588	0.35155	0.93494	0.58370	D	AEFDBHCI	.	.	.	0.889784818367901	0.91249	10.790	0.720016191639193	0.83901	8.144262	0.999956599794708	0.48110	0.162113	0.03585	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24566	0.04862	0	0.850128	0.51682	5.31	4.39	0.52211	9.724000	0.98010	9.909000	0.82412	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.1438:0.8562:0.0	14.952	0.70730	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	704.33	74	chr10	11755609	.	G	A	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=1193;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.829;SOR=0.776	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr10	11866627	11866627	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon3:c.C235T:p.P79S	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0185654607976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015764709	2.052e-06	2.052e-06	4.084e-06	0	6.708e-05	5.5e-07	1.5e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.412	0.14456	T	0.615	0.39791	P	0.188	0.36237	B	0.231006	0.15920	N	0.595257	0.999843	0.20103	N	1.385	0.34509	L	3.18	0.07478	T	-1.39	0.73788	N	0.188	0.20528	-1.0299	0.20487	T	0.019	0.08173	T	10	0.10825345	0.20143	T	0.018565	0.40677	T	0.031	0.07369	0.265	0.21103	0.130388298395	0.12655	0.10351802282758282	0.10281	0.635420910313	0.57360	0.221822753549	0.01418	T	0.02111	0.42404	T	-0.404496	0.02163	T	-0.64296	0.09455	T	0.187770202755928	0.19712	T	0.70393	0.34443	T	0.032739036	0.03357	0.050243437	0.07847	0.032739036	0.03356	0.050243437	0.07846	-3.513	0.16614	T	.	.	0.129	0.27642	B	.;.;.	.;.;.	1.062667	0.14447	11.02	0.99207359651515803	0.55472	0.29926	0.23950	N	AEFDBI	0.141252	0.26337	N	-0.248495261562357	0.31164	1.744711	-0.25191197664086	0.29705	1.666446	0.610114506709223	0.21797	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.34	2.17	0.26736	1.567000	0.36016	1.373000	0.25972	-0.182000	0.10109	0.327000	0.25564	0.647000	0.25944	0.477000	0.28498	0.2363:0.5335:0.2302:0.0	10.506	0.44024	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	926.33	35	chr10	11866627	.	C	T	926.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=693;ExcessHet=0;FS=4.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-3.08;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr10	12112930	12112930	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon13:c.G2185A:p.G729R	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	8	1502	12	0	0	12	0.00397878	.	.	YES	48163	DHTKD1-related_disorder|2-aminoadipic_2-oxoadipic_aciduria|Inborn_disorder_of_lysine_and_hydroxylysine_metabolism|Tip-toe_gait|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_2A2|not_specified|not_provided	.|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|MONDO:MONDO:0017351,MedGen:C0268552,Orphanet:289832|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.376554540521	0.0018	0.000798722	0.0016	0.0006	0.0005	0.0002	0	0.0023	0	0.0014	0.0017529	271	154602	rs117225135	0.0027	0.0027	0.0028	0.0027	0.0033	0.0027	0.0026	0.0031	0.0031	0.0006	0.0005	0.0023	5.073e-05	9.368e-05	0.0033	0.0032	0.0026	0.0017	0.0019	0.0019	0.0021	0.0016	0.0034	0.0017	0.0016	0.0031	0.0029	0.0004	0	0.0009	0.0026	0.0002	0	0.0102	0.0034	0.0014	0.0008	0.006	0.61437	D	0.074	0.42976	T	0.978	0.58756	D	0.854	0.60866	P	0.000017	0.62929	D	0.120088	1	0.81001	D	2.215	0.62545	M	3.56	0.04696	T	-6.02	0.89684	D	0.824	0.81957	-1.1790	0.00384	T	0.039	0.16849	T	10	0.11351588	0.21328	T	0.376555	0.92872	D	0.235	0.53788	0.623	0.75803	0.393775345888	0.38992	0.7752925635615178	0.77479	0.195710018587	0.21922	0.60519015789	0.53637	T	0.296412	0.66905	T	-0.270306	0.11723	T	-0.162208	0.58153	T	0.0411741596724569	0.03903	T	0.973103	0.90315	D	0.7630603	0.81634	0.4724242	0.69415	0.7630603	0.81635	0.4724242	0.69416	-9.709	0.72151	D	.	.	0.224	0.45605	B	.	.	3.952037	0.57900	23.9	0.99918533384707586	0.98586	0.89111	0.49383	D	ALL	0.743112	0.68652	D	0.516671722209486	0.68076	5.167586	0.467964759947418	0.65880	4.879851	0.999999999994152	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.34	0.51267	3.913000	0.56106	6.416000	0.55605	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.258000	0.23468	0.0799:0.0:0.9201:0.0	12.869	0.57342	808	0.43318	Transketolase-like, pyrimidine-binding domain|Transketolase-like, pyrimidine-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1427.33	34	chr10	12112930	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.1;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.368;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr10	13182970	13182970	G	A	exonic	MCM10	.	nonsynonymous SNV	MCM10:NM_018518:exon8:c.G968A:p.R323H,MCM10:NM_182751:exon8:c.G971A:p.R324H	.	429	1087	6	0	0	6	0.00275229	.	.	.	2813003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0002	0.00559105	0.0024	0.0002	0.0145	0.0092	0.0015	0.0003	0.0011	0.0005	0.0025161	389	154602	rs149343572	0.0010	0.0010	0.0010	0.0009	0.0143	0.0009	0.0009	0.0134	0.0130	0.0002	0.0143	0	0.0103	0.0018	0.0007	0.0002	0.0012	0.0004	0.0018	0.0018	0.0013	0.0023	0.0117	0.0016	0.0016	0.0103	0.0097	0.0003	0	0.0117	0	0.0089	0.0018	0	0.0002	0.0019	0.0008	0.572	0.06223	T	0.608	0.07842	T	0.009	0.17573	B	0.012	0.16012	B	0.001239	0.39743	N	0.301490	0.549221	0.32119	D	0.815	0.20815	L	2.55	0.13795	T	0.52	0.02853	N	0.092	0.07262	-1.0377	0.18016	T	0.012	0.04795	T	10	0.0044953227	0.00092	T	.	.	.	0.016	0.02506	.	.	0.112648838833	0.10856	0.3312731131321053	0.33040	0.127220965103	0.14337	0.221794605255	0.01416	T	0.055971	0.30157	T	-0.629955	0.00096	T	-0.665987	0.07868	T	0.00214048974237408	0.00022	T	0.80472	0.45238	T	0.032834396	0.03386	0.021841714	0.00223	0.032834396	0.03385	0.021841714	0.00223	-7.343	0.56501	T	.	.	0.073	0.04889	B	.;.;.	.;.;.	1.438368	0.18577	13.81	0.69189971361022662	0.08893	0.84982	0.44080	D	AEFBI	0.173745	0.30084	N	-0.726757700694294	0.15272	0.768226	-0.587622193945484	0.19816	1.064854	0.00376700496658179	0.10270	0.744818	0.98587	0	0.653731	0.59785	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.43	0.35	0.15273	2.420000	0.44334	1.356000	0.25844	-0.113000	0.14837	1.000000	0.71638	0.759000	0.26609	0.951000	0.49849	0.4195:0.0:0.5805:0.0	9.320	0.37121	861	0.33516	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1088.33	34	chr10	13182970	.	G	A	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=2.4;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	18	0	1	0
chr10	13222107	13222107	G	C	exonic	UCMA	.	nonsynonymous SNV	UCMA:NM_001303119:exon3:c.C251G:p.T84S,UCMA:NM_001303118:exon4:c.C317G:p.T106S,UCMA:NM_145314:exon5:c.C413G:p.T138S	.	434	1081	7	0	0	7	0.00322729	.	.	.	2473313	Keratoconus	Human_Phenotype_Ontology:HP:0000563,MONDO:MONDO:0015486,MeSH:D007640,MedGen:C0022578,OMIM:PS148300	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00286403676443	0.0057	0.000998403	0.0059	0.0011	0.0011	0	0.0095	0.0091	0.0067	0.0013	0.0056856	879	154602	rs140771568	0.0060	0.0060	0.0060	0.0061	0.0070	0.0059	0.0059	0.0069	0.0068	0.0007	0.0014	0.0021	0	0.0087	0.0017	0.0070	0.0044	0.0012	0.0047	0.0047	0.0045	0.0049	0.0079	0.0044	0.0043	0.0073	0.0071	0.0006	0	0.0015	0.0020	0.0002	0.0106	0	0.0079	0.0028	0.0017	0.006	0.61437	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.003732	0.34560	N	0.302491	0.998188	0.22304	N	0	0.06538	N	.	.	.	-1.35	0.33598	N	0.061	0.07535	-1.0396	0.17434	T	0.037	0.16029	T	9	0.005598396	0.00124	T	0.002864	0.06015	T	0.043	0.11576	0.223	0.14665	0.0401082797425	0.02173	0.4116392590489399	0.41079	0.0620596965443	0.06909	0.454357504845	0.32539	T	0.012903	0.11259	T	-0.624304	0.00103	T	-0.661584	0.08160	T	0.0106574809357241	0.00149	T	0.290471	0.05631	T	0.086814255	0.20192	0.06736811	0.13927	0.086814255	0.20192	0.06736811	0.13926	-2.333	0.04739	T	.	.	0.072	0.04316	B	.;.	.;.	1.395753	0.18093	13.54	0.88631434017753996	0.18130	0.57873	0.30491	D	AEFDI	0.140919	0.26296	N	-0.769953196771892	0.14097	0.6995254	-0.623501696876754	0.18890	1.011131	0.381824636041426	0.19968	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.05	2.65	0.30588	1.561000	0.35950	2.852000	0.35147	-0.060000	0.16637	1.000000	0.71638	0.960000	0.29291	0.746000	0.35646	0.8255:0.0:0.1745:0.0	7.717	0.27874	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1688.33	34	chr10	13222107	.	G	C	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-1.092;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr10	13283784	13283784	C	T	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001323083:exon5:c.G470A:p.R157Q,PHYH:NM_001037537:exon6:c.G434A:p.R145Q,PHYH:NM_001323084:exon6:c.G440A:p.R147Q,PHYH:NM_001323080:exon7:c.G434A:p.R145Q,PHYH:NM_001323082:exon7:c.G740A:p.R247Q,PHYH:NM_006214:exon7:c.G734A:p.R245Q	Refsum disease, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	195700	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided|Nonsyndromic_cleft_lip_palate|Retinal_dystrophy|Phytanic_acid_storage_disease|not_specified	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	.	0.0045	0.00539137	0.0078	0.0012	0.0021	0.0002	0.0248	0.0079	0.0121	0.0127	0.0070374	1088	154602	rs62619919	0.0073	0.0073	0.0070	0.0076	0.0131	0.0072	0.0071	0.0125	0.0122	0.0011	0.0020	0.0020	7.557e-05	0.0242	0.0090	0.0068	0.0067	0.0131	0.0069	0.0070	0.0060	0.0079	0.0125	0.0066	0.0065	0.0099	0.0090	0.0011	0.0220	0.0016	0.0029	0	0.0299	0.0102	0.0083	0.0057	0.0125	0.061	0.41364	T	0.168	0.47581	T	0.948	0.53620	P	0.393	0.44248	B	0.000001	0.62929	D	0.095783	0.999999	0.58761	D	2.14	0.59869	M	-2.57	0.89692	D	-3.21	0.64826	D	0.746	0.83066	-0.0996	0.80107	T	0.487	0.80456	T	10	0.0109907985	0.00242	T	.	.	.	0.709	0.89605	.	.	0.819945016332	0.81825	0.7508317222829632	0.75030	0.422443036558	0.42745	0.316044032574	0.12821	T	0.851272	0.96618	D	0.0250171	0.55056	T	0.27419	0.86805	D	0.0586197129615423	0.06950	T	0.847515	0.53448	T	0.76901144	0.81988	0.5183276	0.72170	0.70621306	0.78400	0.5136754	0.71899	-5.679	0.46414	T	0.5775603130396747	0.64448	0.128	0.28693	B	.;.;.;.	.;.;.;.	2.910204	0.38601	20.8	0.99870173341436463	0.94815	0.82671	0.41867	D	AEFBCI	0.538925	0.55611	D	-0.0498178549336814	0.39610	2.338688	-0.0804250776182471	0.36199	2.10369	0.999955430836531	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	4.85	0.62375	3.386000	0.52232	0.015000	0.13501	0.541000	0.25215	0.995000	0.38783	0.000000	0.08366	0.076000	0.17014	0.0:0.8455:0.0:0.1545	11.581	0.50145	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.02632	1468.33	34	chr10	13283784	.	C	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=711;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.798;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr10	13971769	13971769	G	T	exonic	FRMD4A	.	nonsynonymous SNV	FRMD4A:NM_001318337:exon1:c.C31A:p.P11T	.	422	1048	50	2	0	54	0.0251163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	0.00998403	0.0085	0.0215	0.0069	0	0	0.0126	0	0.0067	0.0019922	308	154602	rs115396302	0.0043	0.0034	0.0042	0.0044	0.0347	0.0042	0.0042	0.0302	0.0285	0.0240	0.0046	0.0201	0.0002	0.0004	0.0347	0.0033	0.0076	0.0055	0.0097	0.0097	0.0098	0.0095	0.0213	0.0093	0.0091	0.0201	0.0197	0.0213	0.0428	0.0075	0.0173	0.0002	0.0004	0.0238	0.0046	0.0080	0.0065	0.722	0.03903	T	0.404	0.14818	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999954	0.19072	N	.	.	.	-1.68	0.82897	D	0.33	0.03889	N	.	.	-0.7291	0.59009	T	0.279	0.65089	T	8	0.002155006	0.00031	T	.	.	.	0.136	0.36778	.	.	0.21174354426	0.20776	.	.	.	.	.	.	.	.	.	.	-0.503725	0.00545	T	-0.477419	0.24722	T	0.00162334610149057	0.00016	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.	.	0.790707	0.11611	8.200	0.46892109152217065	0.03791	0.24268	0.22340	N	AEFBIJ	0.162317	0.28847	N	-0.770556285557363	0.14081	0.6986147	-0.814105881477307	0.14155	0.7381071	0.999721840232055	0.42220	0.45559	0.09716	2	0.37387	0.05907	3	0.491513	0.07944	0	0.631631	0.49550	0	.	.	4.89	1.84	0.24348	0.983000	0.29150	-0.096000	0.11999	0.672000	0.70159	0.255000	0.24900	0.000000	0.08366	0.043000	0.14563	0.2286:0.337:0.4344:0.0	5.740	0.17355	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	35	chr10	13971769	.	G	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=711;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.453;SOR=0.57	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	14820082	14820082	C	G	exonic	CDNF	.	nonsynonymous SNV	CDNF:NM_001029954:exon4:c.G462C:p.W154C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.0178064388721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs367910630	1.71e-05	1.71e-05	1.633e-05	1.788e-05	8.961e-05	1.174e-05	9.92e-06	2.375e-05	1.258e-05	8.961e-05	6.708e-05	0.0002	0	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	6.547e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.547e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-12.95	0.99858	D	0.77	0.76760	0.188	0.85709	D	0.560	0.83998	D	9	0.9212666	0.91480	D	0.017806	0.39652	T	0.614	0.84932	.	.	0.273503213844	0.26977	.	.	.	.	0.572284579277	0.49001	T	.	.	.	0.251485	0.78741	D	0.304992	0.88426	D	0.99704784154892	0.90642	D	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-3.011	0.10300	T	.	.	0.902	0.82870	P	.	.	4.538737	0.71321	25.7	0.99152122144153654	0.53848	0.84180	0.43263	D	AEFGBHCI	0.834155	0.75226	D	0.929354866026811	0.93122	11.83507	0.892233268513845	0.95225	13.42399	1.0	0.98316	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.9	5.9	0.94952	7.105000	0.76675	5.862000	0.50443	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	19.054	0.93036	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	37	chr10	14820082	.	C	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=696;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.198;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	18	0	1	0
chr10	14908583	14908583	-	T	exonic	DCLRE1C	.	frameshift insertion	DCLRE1C:NM_001289076:exon12:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_001289078:exon12:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_022487:exon13:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_001033855:exon14:c.1903dupA:p.S635Kfs*6,DCLRE1C:NM_001033857:exon15:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001289077:exon15:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001033858:exon16:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001289079:exon16:c.1543dupA:p.S515Kfs*6	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	460187	Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency|Histiocytic_medullary_reticulosis|not_specified|not_provided	MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.634e-05	8.639e-05	0	0	0.0004	0.0011	0.0010	0.000304	47	154602	rs772947736	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	2.987e-05	0.0002	0.0017	0	0	0.0029	0.0001	0.0008	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0.0017	0	0	0.0034	0.0003	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	4605.29	43	chr10	14908583	.	C	CT	4605.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1145;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.806;SOR=0.593	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr10	15065724	15065724	G	C	exonic	OLAH	.	nonsynonymous SNV	OLAH:NM_001039702:exon6:c.G543C:p.R181S,OLAH:NM_018324:exon7:c.G702C:p.R234S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0109949250658	.	.	3.3e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771907117	2.467e-05	2.463e-05	2.182e-05	2.756e-05	0.0009	1.806e-05	1.603e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.26e-05	3.319e-05	0.0002	1.972e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.009	0.57480	D	0.005	0.72224	D	0.968	0.56581	D	0.713	0.54588	P	0.407673	0.13039	N	0.749123	0.998684	0.21986	N	2.735	0.79925	M	.	.	.	-2.72	0.62630	D	0.203	0.22614	-0.7942	0.55485	T	0.257	0.62744	T	9	0.75827605	0.76148	D	0.010995	0.28145	T	0.115	0.32236	0.846	0.94965	0.0138822411134	0.00435	0.41678842785821885	0.41594	0.00887738924054	0.00804	0.289655596018	0.08872	T	0.11781	0.43816	T	-0.251723	0.13887	T	-0.362691	0.37740	T	0.532257735729218	0.33817	D	0.438156	0.12052	T	0.3157943	0.54282	0.136041	0.32555	0.3157943	0.54282	0.136041	0.32554	-6.784	0.57031	T	.	.	0.599	0.68850	P	.;.;.	.;.;.	1.799679	0.22873	15.80	0.96178917021614085	0.28954	0.22688	0.21830	N	AEFBI	0.091555	0.18544	N	-0.185100998700332	0.33754	1.918633	-0.341957173898202	0.26758	1.480114	0.0010123672524652	0.08126	0.549168	0.22868	0	0.588066	0.40923	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.13	2.23	0.27189	0.890000	0.27931	1.113000	0.24175	0.650000	0.52971	0.669000	0.28339	0.519000	0.25298	0.004000	0.06068	0.341:0.0:0.659:0.0	7.647	0.27492	889	0.27310	.;Thioesterase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	950.33	34	chr10	15065724	.	G	C	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.38;DP=710;ExcessHet=0;FS=4.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.269;SOR=1.267	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	15071877	15071877	G	C	exonic	OLAH	.	nonsynonymous SNV	OLAH:NM_001039702:exon7:c.G655C:p.A219P,OLAH:NM_018324:exon8:c.G814C:p.A272P	.	440	1057	24	1	0	26	0.0121495	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0063	0.00439297	0.0063	0.0010	0.0056	0	0.0008	0.0096	0.0099	0.0019	0.0061577	952	154602	rs141112464	0.0063	0.0063	0.0061	0.0064	0.0212	0.0062	0.0061	0.0182	0.0170	0.0015	0.0076	0.0210	0	0.0010	0.0212	0.0067	0.0077	0.0021	0.0060	0.0060	0.0061	0.0058	0.0111	0.0056	0.0055	0.0098	0.0092	0.0013	0.0208	0.0111	0.0190	0	9.422e-05	0.0340	0.0081	0.0113	0.0029	0.012	0.54683	D	0.017	0.60337	D	0.995	0.73220	D	0.929	0.70672	D	0.008927	0.30598	N	0.363254	0.999996	0.58761	D	3.31	0.90591	M	.	.	.	-3.4	0.67014	D	0.248	0.28498	-0.1361	0.79259	T	0.374	0.73265	T	9	0.015485346	0.00325	T	0.014474	0.34608	T	0.263	0.57612	.	.	0.112648838833	0.10856	0.6394832000678196	0.63883	0.047663189146	0.05203	0.328335881233	0.14683	T	0.08477	0.37353	T	-0.258417	0.13086	T	-0.13786	0.60303	T	0.0219837686994808	0.00907	T	0.449655	0.12671	T	0.8517653	0.87467	0.7689394	0.86355	0.8517653	0.87468	0.7689394	0.86356	-4.864	0.42036	T	.	.	0.318	0.63900	B	.;.	.;.	5.891225	0.93966	33	0.99790793454404803	0.87661	0.97458	0.74879	D	AEFBI	0.786843	0.71680	D	0.618762159074657	0.74362	6.119819	0.537302431636275	0.70519	5.517139	0.746926572213367	0.23299	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	4.79	4.79	0.60909	4.601000	0.60798	9.293000	0.79808	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	17.363	0.87246	889	0.27310	Thioesterase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.025253	0.027174	0.014620	0.000000	0.025862	0.036585	0.018939	0.05263	3692.83	135	chr10	15071877	.	G	C	3692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.053;DP=900;ExcessHet=0.119;FS=0.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.484;SOR=0.789	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1444	17	0	2	0
chr10	15104021	15104021	T	C	exonic	RPP38	.	nonsynonymous SNV	RPP38:NM_001265601:exon2:c.T707C:p.F236S,RPP38:NM_006414:exon2:c.T707C:p.F236S,RPP38:NM_001097590:exon3:c.T707C:p.F236S,RPP38:NM_183005:exon3:c.T707C:p.F236S	.	437	1037	48	0	0	48	0.0226202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0005	0.00658946	0.0049	0.0004	0.0019	0.0154	0	0.0019	0.0055	0.0183	0.004379	677	154602	rs145152071	0.0026	0.0026	0.0020	0.0033	0.0302	0.0026	0.0025	0.0265	0.0251	0.0007	0.0019	0.0026	0.0107	3.744e-05	0.0302	0.0010	0.0038	0.0195	0.0023	0.0023	0.0018	0.0028	0.0205	0.0021	0.0020	0.0173	0.0160	0.0005	0	0.0018	0.0035	0.0137	0	0.0204	0.0016	0.0038	0.0205	0.406	0.10278	T	0.548	0.09489	T	0.003	0.11197	B	0.002	0.06944	B	0.972269	0.07787	N	1.014050	1	0.08975	N	2.01	0.54746	M	2.98	0.09356	T	-0.14	0.09135	N	0.084	0.06059	-0.9139	0.46364	T	0.015	0.06042	T	10	0.003263712	0.00056	T	.	.	.	0.038	0.09825	.	.	0.219573609325	0.21563	0.2349481285067767	0.23409	0.154710486626	0.17472	0.283195614815	0.07942	T	0.005185	0.04625	T	-0.619601	0.00111	T	-0.647195	0.09152	T	0.00119366092255091	0.00012	T	0.410359	0.10588	T	0.1212417	0.28514	0.037867542	0.03531	0.1212417	0.28514	0.037867542	0.03530	-1.537	0.01841	T	.	.	0.092	0.13362	B	.;.;.;.	.;.;.;.	0.245468	0.06252	2.707	0.55435688288076312	0.05342	0.05553	0.11449	N	AEFBCI	0.079022	0.15954	N	-1.19906891468011	0.05014	0.2276249	-1.23858193631294	0.05302	0.2523114	0.968855460798282	0.29083	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	-3.73	0.04112	-0.624000	0.05637	-0.067000	0.12346	-0.888000	0.02403	0.012000	0.18695	0.349000	0.24462	0.504000	0.29107	0.2082:0.3853:0.2135:0.193	2.386	0.04099	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.010101	0.017663	0.043860	0.000000	0.025862	0.009146	0.018939	0.02632	1331.33	33	chr10	15104021	.	T	C	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=1269;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.363;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1402	18	0	1	0
chr10	15168558	15168558	G	C	exonic	NMT2	.	nonsynonymous SNV	NMT2:NM_004808:exon1:c.C55G:p.Q19E	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.854045534267	.	0.000399361	0.0002	0	8.761e-05	0	0	3.11e-05	0.0046	0.0008	0.0001423	22	154602	rs544927506	9.085e-05	9.029e-05	5.108e-05	0.0001	0.0009	7.795e-05	7.333e-05	0.0007	0.0007	0	0	0	0	0	0.0002	4.616e-05	8.375e-05	0.0009	3.29e-05	3.282e-05	2.574e-05	4.038e-05	0.0006	1.262e-05	7.99e-06	0.0002	9.007e-05	0	0	6.538e-05	0	0	0	0	1.473e-05	0	0.0006	0.348	0.12386	T	0.659	0.06533	T	0.062	0.23277	B	0.011	0.15521	B	0.000014	0.62929	U	0.069226	0.992367	0.81001	D	1.39	0.34934	L	1.01	0.41058	T	-0.19	0.09965	N	0.383	0.42443	-1.0969	0.04487	T	0.096	0.36212	T	10	0.034914374	0.01718	T	0.854046	0.98877	D	0.181	0.45247	0.104	0.01698	0.27855597813	0.27464	0.12157808728759177	0.12084	1.30245673373	0.83054	0.894393563271	0.95795	D	0.016398	0.13566	T	-0.452688	0.01089	T	-0.490508	0.23338	T	0.112445257968984	0.13675	T	0.786121	0.42437	T	0.10723298	0.25355	0.13473505	0.32278	0.10723298	0.25355	0.13473505	0.32277	-2.344	0.04801	T	.	.	0.063	0.01470	B	.	.	3.168658	0.42966	21.6	0.6945946642922034	0.08979	0.50309	0.28633	D	ALL	0.354456	0.44653	N	-0.608906826277474	0.18676	0.9715093	-0.650078858176117	0.18215	0.9720505	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.77	1.82	0.24209	4.694000	0.61446	10.865000	0.83990	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.1858:0.8142:0.0	11.386	0.49024	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	35	chr10	15168558	.	G	C	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.734;DP=918;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr10	15213169	15213169	T	G	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon8:c.A2419C:p.T807P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0130521121698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.005	0.72224	D	0.773	0.44016	P	0.503	0.47728	P	0.000001	0.84330	N	0.093332	0.97716	0.39342	D	1.625	0.41611	L	1.45	0.32482	T	-1.91	0.44471	N	0.317	0.35727	-1.0960	0.04611	T	0.067	0.27674	T	10	0.32657307	0.49952	T	0.013052	0.32145	T	0.159	0.41286	0.621	0.75576	0.0675242888579	0.06100	0.16836300105323626	0.16756	0.609390119141	0.55673	0.471006810665	0.34819	T	0.034367	0.23294	T	-0.0812643	0.39510	T	-0.354507	0.38687	T	0.852966547012329	0.50423	D	0.805919	0.45429	T	0.40586016	0.61137	0.34273237	0.59995	0.40586016	0.61137	0.34273237	0.59995	-3.659	0.18715	T	.	.	0.084	0.09578	B	.	.	2.971785	0.39609	21.0	0.99211377679288115	0.55594	0.96865	0.71360	D	AEFDBI	0.743925	0.68707	D	0.0505051308238605	0.44166	2.695636	0.0640090590364151	0.42753	2.591586	0.999985091589326	0.51787	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	2.7	0.31007	3.774000	0.55048	1.893000	0.29531	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0706:0.1347:0.7947	8.155	0.30325	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3456.33	34	chr10	15213169	.	T	G	3456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=893;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.417;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	18	0	1	0
chr10	15214221	15214221	T	A	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon8:c.A1367T:p.D456V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00624364402368	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921168013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.157	0.31730	T	0.031	0.20130	B	0.039	0.23607	B	0.000006	0.62929	D	0.107337	1	0.81001	D	1.355	0.33814	L	1.29	0.35775	T	-1.97	0.45587	N	0.21	0.23380	-1.0848	0.06444	T	0.062	0.25887	T	10	0.12726226	0.24200	T	0.006244	0.16376	T	0.106	0.30130	0.56	0.67958	0.043077524339	0.03247	0.48621118713119965	0.48541	0.399445563684	0.40968	0.388376951218	0.23441	T	0.028352	0.20559	T	-0.100507	0.36339	T	-0.382148	0.35470	T	0.339675039052963	0.26611	T	0.868113	0.56980	D	0.15907872	0.35754	0.106209636	0.25547	0.15907872	0.35753	0.106209636	0.25547	-3.639	0.18422	T	.	.	0.200	0.42317	B	.	.	2.508352	0.32389	19.03	0.96905283451834401	0.31554	0.91558	0.53781	D	AEFDBI	0.377111	0.46101	N	-0.218760121913524	0.32365	1.824422	-0.059574837302826	0.37079	2.166225	0.999988977550431	0.51787	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	2.824000	0.47789	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.115000	0.18958	0.1439:0.0:0.0:0.8561	10.556	0.44304	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2540.33	34	chr10	15214221	.	T	A	2540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=888;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.82;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	18	0	1	0
chr10	15572324	15572324	C	T	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon24:c.G2479A:p.V827M,ITGA8:NM_003638:exon25:c.G2524A:p.V842M	Renal hypodysplasia/aplasia 1, Autosomal recessive	426	1088	8	0	0	8	0.003663	.	.	.	2092814	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.0403543211114	.	.	0.0003	0	0.0005	0	0	0.0001	0.0022	0.0014	0.0002781	43	154602	rs202138436	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0.0004	0.0003	0	0	0.0010	4.586e-05	0.0003	0.0014	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0.0009	0	0	0	0.0001	0.0005	0.0008	0.009	0.57480	D	0.019	0.59159	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.1	0.87590	M	0.57	0.54347	T	-1.3	0.32590	N	0.751	0.75009	-0.3339	0.74020	T	0.367	0.72704	T	10	0.37797797	0.53977	T	0.040354	0.59331	D	0.354	0.67510	0.619	0.75347	0.676231033367	0.67348	0.725694626815019	0.72513	0.41740265209	0.42361	0.660179138184	0.61436	T	0.137438	0.47037	T	-0.0971636	0.36893	T	0.0575757	0.74084	D	0.191917636465701	0.19957	T	0.906109	0.66926	D	0.2030333	0.42367	0.3000984	0.56043	0.2030333	0.42367	0.3000984	0.56042	-7.745	0.59320	D	.	.	0.354	0.56838	A	.	.	4.753517	0.76787	26.6	0.99908217761632967	0.97801	0.95472	0.64857	D	AEFI	0.828834	0.74786	D	0.84229065314744	0.88664	9.664416	0.82643004534023	0.91569	10.95305	0.999999983766646	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	6.347000	0.72953	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92015	897	0.25382	Integrin alpha-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1464.33	33	chr10	15572324	.	C	T	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=753;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.03;SOR=0.79	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	77.83	34	chr10	15786605	.	T	C	77.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.058;DP=1118;ExcessHet=0.119;FS=145.224;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=0.726;SOR=9.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	17	0	2	0
chr10	15833683	15833683	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon7:c.C158T:p.T53M,MINDY3:NM_024948:exon8:c.C677T:p.T226M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.09453396335	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201352822	2.675e-05	2.736e-05	3.278e-05	2.067e-05	0.0005	2.003e-05	1.759e-05	0.0004	0.0003	5.995e-05	8.954e-05	0	0.0005	0	0	4.51e-06	3.32e-05	5.814e-05	5.259e-05	5.251e-05	3.858e-05	6.724e-05	0.0004	2.558e-05	1.831e-05	6.823e-05	2.855e-05	2.408e-05	0	0.0002	0	0.0004	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.043653	1	0.81001	D	.	.	.	1.19	0.37578	T	-4.97	0.83830	D	0.928	0.93252	-0.5057	0.68443	T	0.250	0.61969	T	10	0.6747147	0.70922	D	0.094534	0.76270	D	0.455	0.75415	.	.	0.257342827899	0.25358	0.7892098188687574	0.78872	0.600846760602	0.55152	0.835624277592	0.87426	D	0.366114	0.73142	T	-0.049864	0.44470	T	-0.0837008	0.64632	T	0.920954167842865	0.58037	D	0.914409	0.69449	D	0.62232244	0.73888	0.565358	0.74843	0.62232244	0.73889	0.565358	0.74844	-9.034	0.67916	D	.	.	0.320	0.54485	B	.;.;.	.;.;.	5.131401	0.85875	28.7	0.99898009000469157	0.97048	0.98891	0.88239	D	AEFBI	0.883070	0.81170	D	0.822606919197889	0.87498	9.238848	0.772879241718233	0.87852	9.367927	0.989382768283902	0.31809	0.706298	0.61202	0	0.708844	0.79440	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.74	4.84	0.62125	9.211000	0.94222	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0694:0.0:0.9306:0.0	14.754	0.69169	832	0.38914	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	34	chr10	15833683	.	G	A	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=664;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.07;SOR=0.324	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	18	0	1	0
chr10	16484400	16484400	G	T	exonic	PTER	.	stopgain	PTER:NM_001261836:exon2:c.G16T:p.G6X,PTER:NM_001001484:exon3:c.G16T:p.G6X,PTER:NM_001261837:exon3:c.G16T:p.G6X,PTER:NM_030664:exon3:c.G16T:p.G6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002762605	8.368e-06	8.209e-06	9.7e-06	7.019e-06	9.969e-06	4.46e-06	3.53e-06	5.35e-06	3.91e-06	0	0	0	0	0	0	9.969e-06	1.691e-05	0	6.577e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.086330	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.756	0.75466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	8.949079	0.98249	39	0.99279160162830615	0.57834	0.99595	0.97811	D	AEFBI	0.277160	0.39174	N	1.00924945985046	0.96023	14.21564	0.830115440692084	0.91802	11.07604	0.999960749106818	0.48965	0.706298	0.61202	0	0.644132	0.57912	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.08	5.18	0.71140	7.774000	0.84234	8.554000	0.77540	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0671:0.0:0.9329:0.0	15.151	0.72377	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	34	chr10	16484400	.	G	T	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=701;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.072;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr10	16505132	16505132	A	G	exonic	PTER	.	nonsynonymous SNV	PTER:NM_001261838:exon3:c.A364G:p.M122V,PTER:NM_001261836:exon4:c.A811G:p.M271V,PTER:NM_001001484:exon5:c.A811G:p.M271V,PTER:NM_030664:exon5:c.A811G:p.M271V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0278809570233	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758683802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.804	0.45171	P	0.771	0.56890	P	0.000000	0.84330	D	0.034029	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-3.58	0.69118	D	0.811	0.80669	-0.6839	0.61192	T	0.239	0.60714	T	10	0.69736975	0.72228	D	0.027881	0.50634	D	0.436	0.74093	0.618	0.75232	0.609838869565	0.60670	0.7568209792786418	0.75630	0.207438064906	0.23204	0.493065804243	0.37864	T	0.232839	0.59950	T	0.158179	0.70032	D	0.0862901	0.75998	D	0.948777854442596	0.62968	D	0.838916	0.51225	T	0.7302226	0.79736	0.69489634	0.82038	0.7302226	0.79737	0.69489634	0.82039	-8.214	0.62519	D	.	.	0.299	0.53717	B	.;.;.	.;.;.	4.364073	0.67135	25.1	0.99482793953670812	0.66959	0.98490	0.83329	D	AEFDGBI	0.899450	0.84386	D	0.622159199645613	0.74578	6.156528	0.609841589756034	0.75652	6.348835	0.999999997894346	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.635000	0.90770	10.997000	0.84734	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	15.260	0.73310	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.33	48	chr10	16505132	.	A	G	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=798;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-0.451;SOR=1.25	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr10	16505156	16505156	A	T	exonic	PTER	.	stopgain	PTER:NM_001261838:exon3:c.A388T:p.R130X,PTER:NM_001261836:exon4:c.A835T:p.R279X,PTER:NM_001001484:exon5:c.A835T:p.R279X,PTER:NM_030664:exon5:c.A835T:p.R279X	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	0	0	6.086e-05	6.5e-06	1	154602	rs769620860	8.895e-06	8.893e-06	8.169e-06	9.628e-06	0.0001	4.96e-06	3.82e-06	8.001e-05	6.239e-05	0	0	0	0	0	0	8.994e-07	0	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.006521	0.31983	N	0.399127	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380379	0.88733	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.697595	0.97900	38	0.99805971105743763	0.88995	0.81551	0.40932	D	AEDGBI	0.217995	0.34305	N	0.821516688675654	0.87432	9.215971	0.67202448164649	0.80258	7.259596	0.998265856017645	0.36664	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	2.334000	0.43579	4.424000	0.43326	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7623:0.0:0.0862:0.1515	5.747	0.17392	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	772.33	48	chr10	16505156	.	A	T	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.605;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.291;SOR=0.6	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr10	16695157	16695157	-	GG	splicing	RSU1	NM_012425:exon8:c.599-2->CC;NM_152724:exon7:c.440-2->CC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0.0006	0.0030	0.0013	0.0007	0.0015	0.0014	0.0011513	178	154602	rs373104238	0.0009	0.0041	0.0008	0.0009	0.0031	0.0008	0.0008	0.0027	0.0026	0.0008	0.0007	0.0002	0.0027	0.0013	0.0005	0.0006	0.0015	0.0031	0.0020	0.0034	0.0018	0.0021	0.0123	0.0018	0.0017	0.0096	0.0087	0.0016	0	0.0009	0	0.0123	0.0016	0.0038	0.0014	0.0011	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3361.53	39	chr10	16695157	.	T	TGG	3361.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.805;DP=2131;ExcessHet=2.9153;FS=4.657;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=5.2;ReadPosRankSum=0.136;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800:.	18	0	1	0
chr10	16877095	16877095	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon57:c.C8908T:p.R2970C	Megaloblastic anemia-1, Finnish type, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	314783	not_provided|Imerslund-Grasbeck_syndrome_type_1|Proteinuria,_chronic_benign	MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0182149988571	.	0.000599042	7.855e-05	0	0	0	0	1.773e-05	0	0.0005	7.12e-05	11	154602	rs562374248	3.286e-05	3.283e-05	2.997e-05	3.579e-05	0.0004	2.545e-05	2.251e-05	0.0003	0.0002	0	4.488e-05	0	0	0	0	9.897e-06	4.972e-05	0.0004	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0006	8.14e-06	5.14e-06	0.0002	9e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.016	0.51853	D	0.008	0.67890	D	0.999	0.77913	D	0.761	0.56482	P	0.041085	0.23987	N	0.303958	0.976139	0.39249	D	2.24	0.63355	M	2.18	0.18875	T	-2.61	0.56144	D	0.489	0.52297	-1.1467	0.01127	T	0.080	0.31795	T	10	0.18664667	0.34139	T	0.018215	0.40210	T	0.293	0.61272	.	.	0.648041160416	0.64512	0.5239698212737309	0.52320	0.490506327455	0.47770	0.268442034721	0.05939	T	0.200655	0.55831	T	-0.300506	0.08612	T	-0.326702	0.41834	T	0.527500152587891	0.33642	D	0.838916	0.51225	T	0.2585573	0.48905	0.1815306	0.41023	0.2585573	0.48905	0.1815306	0.41022	-7.479	0.57463	T	0.7892728031310032	0.86797	0.22	0.45061	B	.	.	4.558150	0.71801	25.7	0.99895481663157604	0.96819	0.90708	0.52111	D	AEFBCI	0.610009	0.59899	D	0.534531285645599	0.69147	5.315811	0.522276709083507	0.69492	5.368054	0.99250569114194	0.32863	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	5.91	5.91	0.95240	5.768000	0.68510	11.713000	0.94685	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0829:0.0:0.9171:0.0	11.102	0.47403	900	0.24599	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	34	chr10	16877095	.	G	A	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=721;ExcessHet=0;FS=2.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.336;SOR=0.368	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	618.33	33	chr10	16915037	.	A	G	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.367;DP=683;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.32;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr10	16925418	16925418	T	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon43:c.A6469G:p.N2157D	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1505	15	1	0	17	0.00561612	.	.	.	684155	not_provided|Imerslund-Grasbeck_syndrome|See_cases|Imerslund-Grasbeck_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|.|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.322	.	0.0054	0.00319489	0.0056	0.0012	0.0044	0	0.0144	0.0071	0.0077	0.0025	0.005181	801	154602	rs144360241	0.0052	0.0052	0.0051	0.0053	0.0205	0.0051	0.0050	0.0175	0.0163	0.0008	0.0031	0.0066	0	0.0134	0.0205	0.0053	0.0051	0.0026	0.0053	0.0053	0.0053	0.0053	0.0065	0.0050	0.0048	0.0060	0.0058	0.0012	0	0.0052	0.0063	0	0.0173	0.0170	0.0065	0.0061	0.0019	0.217	0.19157	T	0.031	0.53788	D	1.0	0.90584	D	0.99	0.78936	D	0.000117	0.50451	D	0.000000	0.998513	0.45021	D	0.43	0.12624	N	2.05	0.20664	T	-4.22	0.75854	D	0.77	0.76760	-1.0915	0.05286	T	0.053	0.22501	T	10	0.020251662	0.00464	T	.	.	.	0.322	0.64420	.	.	0.618957995044	0.61587	0.7563220409290017	0.75580	0.468211300849	0.46174	0.475276261568	0.35408	T	0.232793	0.59944	T	-0.418902	0.01738	T	-0.370774	0.36798	T	0.0130285042958418	0.00227	T	0.661134	0.27033	T	0.41620767	0.61839	0.4079235	0.65124	0.41620767	0.61839	0.4079235	0.65124	-5.39	0.40823	T	0.4753071230537675	0.55498	0.240	0.47459	B	.	.	3.512344	0.49190	22.7	0.9978035496376344	0.86693	0.99506	0.96851	D	AEFBI	0.866429	0.78585	D	0.425530577525167	0.62831	4.50557	0.457775295356004	0.65217	4.796047	0.999993809970639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.201000	0.77364	5.041000	0.46911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	15.441	0.74911	803	0.44167	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.008152	0.023392	0.000000	0.017241	0.009146	0.003788	0.02632	1129.33	59	chr10	16925418	.	T	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.769;DP=1232;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.44;MQRankSum=0.496;QD=14.86;ReadPosRankSum=-0.696;SOR=0.838	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr10	16950060	16950060	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon34:c.C5021T:p.T1674M	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1493064	Imerslund-Grasbeck_syndrome|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00640240586645	.	.	1.681e-05	0	0	0	0	3.044e-05	0	0	1.29e-05	2	154602	rs747701083	2.463e-05	2.531e-05	2.723e-05	2.2e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	0	2.237e-05	0	0	1.873e-05	0.0014	1.979e-05	6.624e-05	0	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.075	0.34444	T	0.002	0.79402	D	0.993	0.65571	D	0.691	0.53831	P	0.042944	0.01913	N	2.230770	1	0.08975	N	1.59	0.40313	L	1.31	0.35405	T	-1.45	0.35597	N	0.235	0.26475	-0.9509	0.40816	T	0.094	0.35658	T	10	0.3998961	0.55493	T	0.006402	0.16841	T	0.093	0.26882	.	.	0.448399296293	0.44462	0.2521238859887243	0.25126	0.0961421984922	0.10851	0.289477020502	0.08846	T	0.073345	0.34674	T	-0.33952	0.05421	T	-0.569107	0.15532	T	0.444998115301132	0.30613	T	0.59884	0.22311	T	0.021152103	0.00703	0.03608001	0.02983	0.021152103	0.00703	0.03608001	0.02983	-7.063	0.54493	T	0.17853271694701947	0.22886	0.100	0.17016	B	.	.	1.943917	0.24691	16.49	0.99575104760723898	0.72621	0.08992	0.14835	N	AEFDBIJ	0.128351	0.24608	N	-0.510291240580358	0.21747	1.156345	-0.739841322349983	0.15972	0.8426985	0.99995258533028	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	-4.43	0.03319	0.905000	0.28127	-1.133000	0.06232	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1466:0.191:0.1579:0.5046	2.234	0.03759	774	0.48577	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2490.33	33	chr10	16950060	.	G	A	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.211;DP=832;ExcessHet=0;FS=11.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.121;SOR=0.485	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	0	1	0
chr10	17071457	17071457	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.G2594A:p.S865N	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	259935	not_provided|Imerslund-Grasbeck_syndrome|not_specified|Imerslund-Grasbeck_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:CN169374|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00319489	0.0075	0.0017	0.0018	0	0.0058	0.0113	0.0022	0.0042	0.0075225	1163	154602	rs138083522	0.0097	0.0097	0.0096	0.0098	0.0112	0.0096	0.0095	0.0110	0.0109	0.0016	0.0033	0.0091	0	0.0062	0.0066	0.0112	0.0086	0.0051	0.0073	0.0073	0.0076	0.0071	0.0123	0.0070	0.0068	0.0116	0.0113	0.0021	0.0296	0.0035	0.0072	0	0.0052	0.0034	0.0123	0.0085	0.0033	0.535	0.06913	T	0.579	0.08535	T	0.007	0.14184	B	0.006	0.12133	B	0.140464	0.18308	N	0.458452	1	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.38	0.03579	N	0.659	0.66873	-0.9833	0.34234	T	0.013	0.05129	T	10	0.0062994957	0.00142	T	.	.	.	0.062	0.17934	.	.	0.226586394389	0.22295	0.20347358920778352	0.20264	0.076962351002	0.08643	0.32478749752	0.14146	T	0.025731	0.19180	T	-0.74171	0.00020	T	-0.827161	0.01313	T	0.00110475637476235	0.00011	T	0.50225	0.15758	T	0.05099775	0.09301	0.06838942	0.14277	0.05099775	0.09300	0.06838942	0.14277	-3.209	0.12591	T	0.1740204019745255	0.22077	0.074	0.05060	B	.	.	-0.325975	0.02506	0.295	0.86535495772032101	0.16602	0.03089	0.08012	N	AEFBI	0.080154	0.16202	N	-1.07499693678541	0.07107	0.3291508	-1.05645910652824	0.08572	0.4221397	0.990266353850165	0.32094	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	-4.35	0.03402	-0.871000	0.04331	-2.571000	0.03595	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2171:0.6099:0.173	11.884	0.51869	864	0.32732	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.011364	0.02632	2533.33	34	chr10	17071457	.	C	T	2533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=833;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.182;SOR=0.589	GT:AD:DP:GQ:PL	0/1:105,103:208:99:2547,0,2520	18	0	1	0
chr10	17321030	17321030	T	G	exonic	ST8SIA6	.	nonsynonymous SNV	ST8SIA6:NM_001004470:exon8:c.A1045C:p.T349P,ST8SIA6:NM_001345961:exon9:c.A592C:p.T198P	.	.	.	.	.	.	.	.	.	.	.	3323551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0172741162593	.	.	9.064e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200001781	5.131e-05	5.13e-05	4.356e-05	5.913e-05	6.205e-05	4.192e-05	3.823e-05	4.987e-05	4.568e-05	0	2.236e-05	0	0	0	0	6.205e-05	8.279e-05	0	7.228e-05	7.219e-05	7.713e-05	6.72e-05	0.0001	3.971e-05	3.127e-05	6.807e-05	5.089e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.123	0.27544	T	0.056	0.46632	T	0.988	0.62325	D	0.796	0.58006	P	0.004635	0.33547	N	0.372956	1	0.08975	N	2.545	0.74286	M	1.85	0.24472	T	-0.5	0.15782	N	0.126	0.11912	-0.9193	0.45648	T	0.124	0.42694	T	10	0.15977332	0.30012	T	0.017274	0.38900	T	0.209	0.49871	0.543	0.65589	0.425028116352	0.42120	0.6001936262529679	0.59950	0.234047298348	0.25940	0.391147613525	0.23832	T	0.006823	0.06247	T	-0.259356	0.12976	T	-0.384622	0.35181	T	0.322705049179757	0.25931	T	0.738826	0.35731	T	0.10624513	0.25122	0.1420453	0.33806	0.10624513	0.25122	0.1420453	0.33805	-11.299	0.81272	D	.	.	0.341	0.55950	A	.	.	4.088153	0.60867	24.3	0.994365616396782	0.64522	0.93069	0.57249	D	AEFGBI	0.559498	0.56829	D	0.338042495215457	0.58111	3.981604	0.2261429026486	0.51304	3.313974	5.89381941672762E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.48	4.35	0.51454	1.497000	0.35257	4.864000	0.45499	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.963000	0.52385	0.147:0.15:0.0:0.7031	4.832	0.12808	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2594.33	35	chr10	17321030	.	T	G	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=801;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.881;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	18	0	1	0
chr10	17776041	17776041	A	C	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon3:c.A343C:p.I115L	.	438	1080	0	1	3	5	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00130043597924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs574844694	9.579e-06	9.577e-06	6.808e-06	1.238e-05	0.0019	5.56e-06	4.35e-06	0.0011	0.0008	0	0	0	0	0	0.0019	8.994e-07	1.657e-05	1.159e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.415	0.09989	T	0.108	0.37589	T	0.048	0.22112	B	0.036	0.22909	B	0.713497	0.09994	N	0.828175	1	0.08975	N	.	.	.	.	.	.	-0.73	0.20576	N	0.168	0.17828	-0.9831	0.34281	T	0.112	0.40029	T	9	0.0474101	0.04056	T	0.001	0.01809	T	0.011	0.01250	0.134	0.03833	0.0138822411134	0.00435	0.24371627008887523	0.24285	.	.	0.338200747967	0.16169	T	0.00977	0.08869	T	-0.237875	0.15622	T	-0.579468	0.14592	T	0.0514616258442402	0.05755	T	0.524448	0.17180	T	0.03160787	0.03031	0.043284707	0.05349	0.03160787	0.03031	0.043284707	0.05349	-2.85	0.08653	T	.	.	0.097	0.15921	B	.	.	-0.406962	0.02186	0.216	0.85853426556199253	0.16153	0.02522	0.07026	N	AEFI	0.049971	0.08687	N	-0.90320762287482	0.10766	0.5161344	-0.966883243894749	0.10534	0.5311532	1.11055226076517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	-0.36	0.11943	0.066000	0.14358	-1.301000	0.05774	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.370000	0.26111	0.4439:0.0:0.5561:0.0	8.038	0.29665	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	916.33	33	chr10	17776041	.	A	C	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.035;DP=719;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.335;SOR=0.532	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr10	17953286	17953286	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001145195:exon2:c.C10T:p.R4W,SLC39A12:NM_001282733:exon2:c.C10T:p.R4W,SLC39A12:NM_152725:exon2:c.C10T:p.R4W	.	434	1086	2	0	0	2	0.000919963	.	.	.	2400030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0126068082992	.	.	2.492e-05	0	8.664e-05	0.0001	0	1.508e-05	0	0	1.94e-05	3	154602	rs782725317	1.779e-05	1.847e-05	1.906e-05	1.65e-05	0.0002	1.238e-05	1.052e-05	3.983e-05	2.374e-05	0.0001	4.474e-05	0	2.519e-05	0	0.0002	7.195e-06	0.0001	1.16e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	9.418e-05	0	0	0	0	0.156	0.24090	T	0.133	0.34359	T	0.0	0.02946	B	0.0	0.01387	B	0.152251	0.17929	N	0.555807	0.999999	0.58761	D	-2.125	0.00148	N	1.93	0.22881	T	0.89	0.01893	N	0.158	0.18784	-1.0324	0.19681	T	0.016	0.06329	T	10	0.040391415	0.02604	T	0.012607	0.31334	T	0.053	0.14996	0.527	0.63263	0.0297737177859	0.01360	0.2447363870088137	0.24387	0.023310643868	0.02366	0.216499060392	0.01117	T	1.66E-4	0.00025	T	-0.473545	0.00808	T	-0.69229	0.06257	T	0.0475272885670417	0.05058	T	0.581242	0.21054	T	0.041482367	0.06116	0.031670157	0.01790	0.041482367	0.06115	0.031670157	0.01789	-3.741	0.19925	T	.	.	0.045	0.00084	B	.;.;.	.;.;.	1.019184	0.13987	10.55	0.91148117935541673	0.20401	0.11075	0.16390	N	AEFBI	0.111051	0.22000	N	-0.907408165344509	0.10668	0.5108833	-0.705544945273078	0.16822	0.8917315	0.00354045292157448	0.10164	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	1.8	0.24069	0.159000	0.16258	-0.111000	0.11829	-0.781000	0.03322	0.849000	0.30428	0.001000	0.17328	0.343000	0.25501	0.1507:0.2017:0.1385:0.5091	1.262	0.01881	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1650.33	34	chr10	17953286	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=725;ExcessHet=0;FS=2.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-0.054;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1233	18	0	1	0
chr10	18140803	18140803	A	G	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_201593:exon1:c.A67G:p.M23V,CACNB2:NM_201596:exon1:c.A67G:p.M23V,CACNB2:NM_201597:exon1:c.A67G:p.M23V	Brugada syndrome 4	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.755736658304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.772e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.018e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.65419	D	0.277	0.24193	T	0.004	0.12183	B	0.001	0.10090	B	.	.	.	.	0.997208	0.22752	N	0.805	0.20218	L	-1.65	0.83157	D	-0.98	0.25986	N	0.432	0.61002	-0.5433	0.67039	T	0.336	0.70248	T	9	0.2950001	0.47070	T	0.755737	0.98057	D	0.252	0.56159	0.333	0.32005	0.784929984649	0.78294	0.39942202417516115	0.39857	0.20667042463	0.23098	0.865435421467	0.91909	D	0.115636	0.43438	T	0.0187113	0.54208	T	-0.210899	0.53610	T	0.141916709966555	0.16439	T	0.681532	0.29028	T	0.25417212	0.48444	0.32400706	0.58328	0.25417212	0.48444	0.32400706	0.58327	-2.343	0.05358	T	.	.	0.103	0.27613	B	.;.;.	.;.;.	3.694875	0.52664	23.3	0.94334188462853041	0.24670	0.59728	0.30996	D	AEFDBHCIJ	0.156129	0.28144	N	-0.490436610506751	0.22394	1.195432	-0.436166744353558	0.23945	1.308473	0.999985635666456	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	2.97	2.97	0.33479	1.658000	0.36992	6.834000	0.56699	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	7.372	0.25982	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	33	chr10	18140803	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=775;ExcessHet=0;FS=4.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.1;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr10	19066751	19066751	G	A	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon2:c.G232A:p.G78S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.247e-07	6.84e-07	0	1.959e-06	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.062	0.36912	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.59	0.01885	T	-3.32	0.66085	D	0.331	0.37197	.	.	.	.	.	.	.	0.24271408	0.41472	T	.	.	.	.	.	.	.	0.231231049324	0.22751	0.14955329656118266	0.14877	.	.	.	.	.	.	.	.	0.0057667	0.52448	T	-0.229493	0.51821	T	.	.	.	0.640736	0.25328	T	0.03725976	0.04742	0.15135995	0.35658	0.03725976	0.04742	0.15135995	0.35657	-5.935	0.45733	T	.	.	0.109	0.20896	B	.	.	2.537099	0.32816	19.15	0.58103983390699609	0.05917	0.43453	0.27101	N	AEFI	.	.	.	.	.	.	.	.	.	2.77146096047398E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.12451	0.25107	4.3	2.38	0.28415	1.382000	0.33980	7.048000	0.57361	0.614000	0.49286	0.993000	0.37899	1.000000	0.68203	0.477000	0.28498	0.214:0.0:0.786:0.0	7.130	0.24675	918	0.19598	MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1432.33	132	chr10	19066751	.	G	A	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=762;ExcessHet=0;FS=3.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.407;SOR=1.018	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1299	18	0	1	0
chr10	19146225	19146225	C	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon11:c.C1439G:p.S480W	.	558	962	2	0	0	2	0.00103842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0078377	204	26028	rs150497176	0.0109	0.0081	0.0111	0.0106	0.0121	0.0107	0.0106	0.0119	0.0119	0.0014	0.0049	0	7.541e-05	0.0018	0.0024	0.0121	0.0090	0.0033	0.0059	0.0059	0.0065	0.0054	0.0100	0.0056	0.0055	0.0094	0.0091	0.0017	0.0713	0.0033	0	0	0.0008	0	0.0100	0.0090	0.0015	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	0.008595616	0.00195	T	.	.	.	.	.	.	.	0.50055108712	0.49690	0.18437531268855128	0.18356	.	.	.	.	.	.	.	.	-0.448168	0.01158	T	-0.404863	0.32820	T	.	.	.	0.670533	0.27914	T	0.30839565	0.53647	0.41923356	0.65923	0.30839565	0.53647	0.41923356	0.65923	-7.163	0.55215	T	.	.	0.199	0.42244	B	.	.	3.649495	0.51790	23.1	0.46240814081258413	0.03689	0.92717	0.56374	D	AEFI	.	.	.	.	.	.	.	.	.	3.44791246914266E-4	0.06626	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.715379	0.43294	5.33	4.4	0.52402	2.858000	0.48055	3.649000	0.39371	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1564:0.8436:0.0:0.0	13.498	0.60893	888	0.27761	MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	36	chr10	19146225	.	C	G	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.637;DP=719;ExcessHet=0;FS=3.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.72;SOR=0.378	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3222.79	35	chr10	19280171	.	G	T	3222.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.813;DP=814;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.107;SOR=0.674	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1070,0,975	16	0	3	0
chr10	19607878	19607878	-	A	exonic	MALRD1	.	frameshift insertion	MALRD1:NM_001142308:exon35:c.6047dupA:p.L2017Afs*2	.	437	1082	1	2	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs766936322	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	3.17e-05	8.407e-05	7.95e-05	0	0	0.0009	0.0002	0.0002	2.525e-05	0.0001	0.0001	0.0002	8.087e-05	0.0002	7.588e-05	6.291e-05	0.0001	9.903e-05	2.415e-05	0	0	0.0003	0	0	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1886.29	55	chr10	19607878	.	C	CA	1886.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=833;ExcessHet=0;FS=3.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.466;SOR=0.425	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1316	18	0	1	0
chr10	20819467	20819467	G	A	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon20:c.C2012T:p.P671L	.	.	.	.	.	.	.	.	.	.	.	397756	Primary_dilated_cardiomyopathy|not_specified	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.461	0.0927833742269	.	.	0.0001	0	0.0005	0	0	1.498e-05	0	0.0005	9.7e-05	15	154602	rs770107953	3.489e-05	3.489e-05	2.042e-05	4.95e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	5.974e-05	0.0001	0	2.519e-05	0	0.0002	1.079e-05	1.656e-05	0.0003	3.946e-05	3.941e-05	2.571e-05	5.386e-05	0.0002	1.717e-05	1.13e-05	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	0.998	0.73220	D	0.955	0.69585	D	0.000360	0.45440	D	0.151845	1	0.81001	D	3.34	0.90961	M	-0.21	0.66294	T	-7.26	0.94377	D	0.462	0.49874	0.095	0.84077	D	0.545	0.83284	D	10	0.5553013	0.64484	D	0.092783	0.75953	D	0.461	0.75822	0.402	0.43245	0.871828735133	0.87058	0.536467654745734	0.53571	0.124038947676	0.13968	0.543733000755	0.44973	T	0.041168	0.25768	T	0.138697	0.68202	D	0.266	0.86373	D	0.877516150474548	0.52742	D	0.844815	0.52285	T	0.55417025	0.70187	0.6362743	0.78763	0.55417025	0.70189	0.6362743	0.78764	-7.169	0.55259	T	.	.	0.311	0.53808	B	.	.	4.530267	0.71108	25.6	0.99910784407202091	0.98022	0.98826	0.87362	D	AEFBI	0.809110	0.73270	D	0.725271050414359	0.81291	7.48741	0.62703425968147	0.76908	6.578873	0.999999991552347	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	7.125000	0.76809	7.579000	0.60911	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:1.0:0.0	18.663	0.91435	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	984.33	40	chr10	20819467	.	G	A	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.429;DP=727;ExcessHet=0;FS=1.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.581;SOR=0.895	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	20819498	20819498	T	C	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon20:c.A1981G:p.N661D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00538809721162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.214	0.26386	T	0.074	0.24142	B	0.049	0.25116	B	0.213659	0.03404	N	1.504400	1	0.08975	N	0.345	0.11182	N	0.89	0.45636	T	-1.26	0.31778	N	0.215	0.24010	-1.0275	0.21266	T	0.051	0.21728	T	10	0.13338965	0.25387	T	0.005388	0.13832	T	0.024	0.04979	0.473	0.54859	0.316494231283	0.31262	0.1071142733935379	0.10641	0.0175472640881	0.01711	0.292055487633	0.09222	T	0.005182	0.04625	T	-0.373239	0.03433	T	-0.773909	0.02641	T	0.0862991511821747	0.10773	T	0.19608	0.02165	T	0.053197823	0.10031	0.059449546	0.11160	0.053197823	0.10031	0.059449546	0.11160	-5.551	0.42342	T	.	.	0.126	0.26576	B	.	.	1.636482	0.20887	14.96	0.87897320532887846	0.17563	0.01797	0.05612	N	AEFBI	0.061495	0.11761	N	-1.30798875225151	0.03583	0.1603103	-1.32276558390817	0.04137	0.1945124	0.00624095734424228	0.11164	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.03	-6.45	0.01743	-0.501000	0.06479	-0.537000	0.08604	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.437000	0.27605	0.1574:0.0:0.2676:0.575	7.484	0.26592	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	825.33	40	chr10	20819498	.	T	C	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=728;ExcessHet=0;FS=1.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.79;SOR=0.514	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	20823216	20823216	T	G	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon19:c.A1954C:p.I652L	.	455	1063	3	1	0	5	0.00234632	.	.	.	174905	NEBL-related_disorder|not_provided|Primary_dilated_cardiomyopathy|not_specified	.|MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0169250500454	7.7e-05	.	0.0005	0	0.0006	0	0	0.0002	0.0022	0.0018	0.0003493	54	154602	rs200756166	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0.0003	0.0014	0	0	0.0039	3.985e-05	0.0003	0.0021	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.697e-05	0.0014	0.0011	0	0	6.535e-05	0.0003	0	0	0.0136	4.411e-05	0	0.0025	0.101	0.30375	T	0.446	0.13103	T	0.002	0.09854	B	0.006	0.12133	B	0.000032	0.55875	N	0.116312	0.966271	0.81001	D	2.56	0.74772	M	0.98	0.42122	T	-1.18	0.30140	N	0.191	0.20925	-1.0407	0.17101	T	0.079	0.31314	T	10	0.018383563	0.00400	T	0.016925	0.38413	T	0.102	0.29158	.	.	0.499535901811	0.49588	0.22024490517857823	0.21940	0.0161862307894	0.01549	0.377777516842	0.21940	T	0.004348	0.03758	T	-0.570255	0.00221	T	-0.598075	0.12973	T	0.0288108070100475	0.01809	T	0.579642	0.20943	T	0.100473106	0.23725	0.09302109	0.21952	0.100473106	0.23725	0.09302109	0.21951	-4.967	0.36479	T	.	.	0.130	0.28027	B	.	.	1.504803	0.19339	14.21	0.96914440679170255	0.31589	0.82810	0.41988	D	AEFI	0.407165	0.47936	N	-0.481248308266023	0.22696	1.213698	-0.384897882365928	0.25447	1.399455	6.78200649371019E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.42	-0.101	0.12955	0.310000	0.19112	0.064000	0.14171	0.665000	0.62972	0.994000	0.38300	0.969000	0.29651	0.995000	0.73285	0.0:0.1506:0.2592:0.5903	5.798	0.17659	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005056	0.000000	0.001362	0.014620	0.000000	0.025862	0.000000	0.000000	0.02632	483.33	34	chr10	20823216	.	T	G	483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.301;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr10	21516791	21516791	-	TGG	exonic	SKIDA1	.	nonframeshift insertion	SKIDA1:NM_207371:exon4:c.1031_1032insCCA:p.H351_R352insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0010	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs749932127	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0.0004	8.286e-05	2.888e-05	7.223e-05	0.0005	0.0002	0.0002	0.0001	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0005	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	879.29	35	chr10	21516791	.	A	ATGG	879.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=756;ExcessHet=0;FS=4.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=1.25;SOR=0.278	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1300	18	0	1	0
chr10	22003318	22003320	CAG	-	exonic	DNAJC1	.	nonframeshift deletion	DNAJC1:NM_022365:exon1:c.115_117del:p.L39del	.	289	1214	19	0	0	19	0.00776461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0334	.	0.0154	0.0036	0.0136	0.0077	0	0.0106	0.0244	0.0222	0.0018952	293	154602	rs751051022	0.0012	0.0098	0.0012	0.0013	0.0059	0.0012	0.0012	0.0052	0.0049	0.0015	0.0059	0.0023	0.0022	0.0013	0.0019	0.0008	0.0016	0.0040	1.975e-05	0.0003	1.288e-05	2.694e-05	6.555e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.555e-05	0	0	0	0	2.947e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022479	0.006024	0.019031	0.035433	0.000000	0.021277	0.011111	0.032407	0.02632	49.29	33	chr10	22003317	.	CCAG	C	49.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-2.923;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,4:36:63:63,0,1330	18	0	1	0
chr10	22003351	22003351	-	TG	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.83_84insCA:p.T29Rfs*31	.	291	1219	11	1	0	13	0.00530396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0026	0	0	0	0	0	0	0.0047	0.0001537	4	26028	rs575609970	0.0011	0.0011	0.0009	0.0014	0.0098	0.0011	0.0011	0.0091	0.0089	4.028e-05	0.0001	0	0	0.0007	0.0049	0.0007	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0097	0.0007	0.0006	0.0075	0.0067	0.0001	0	6.538e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	36	chr10	22003351	.	C	CTG	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=666;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.311;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:22003351_C_CTG:577,0,645:22003351	18	0	1	0
chr10	22003352	22003352	-	G	exonic	DNAJC1	.	frameshift insertion	DNAJC1:NM_022365:exon1:c.82dupC:p.R28Pfs*30	.	301	1208	11	1	1	14	0.005352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0	0	0	0	0	0	0.0068	0.0001921	5	26028	.	0.0011	0.0011	0.0009	0.0014	0.0101	0.0011	0.0011	0.0094	0.0091	4.053e-05	0.0001	0	0	0.0007	0.0050	0.0007	0.0014	0.0101	0.0008	0.0008	0.0006	0.0010	0.0095	0.0007	0.0006	0.0073	0.0066	0.0001	0	6.549e-05	0	0	0.0003	0.0103	0.0009	0.0005	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	36	chr10	22003352	.	C	CG	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.398;DP=664;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.104;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:22003351_C_CTG:577,0,645:22003351	18	0	1	0
chr10	23006950	23006950	G	C	exonic	ARMC3	.	nonsynonymous SNV	ARMC3:NM_001282747:exon11:c.G1009C:p.A337P,ARMC3:NM_001282745:exon14:c.G1798C:p.A600P,ARMC3:NM_001282746:exon14:c.G1798C:p.A600P,ARMC3:NM_173081:exon14:c.G1798C:p.A600P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00827998931009	.	.	8.358e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs754176570	2.054e-06	2.052e-06	0	4.129e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.525	0.09264	T	0.432	0.20486	T	0.982	0.60036	D	0.836	0.59919	P	0.067207	0.02208	N	2.132630	0.911505	0.37038	D	1.375	0.34280	L	1.16	0.38073	T	1.83	0.00912	N	0.192	0.28146	-0.9450	0.41814	T	0.126	0.43215	T	10	0.13846835	0.26333	T	0.00828	0.21928	T	0.119	0.33137	0.663	0.80098	0.443285836454	0.43952	0.7081558648646185	0.70757	0.151425242927	0.17090	0.364188611507	0.19994	T	0.00118	0.06625	T	-0.18108	0.23575	T	-0.497886	0.22567	T	0.0846753544997707	0.10574	T	0.734027	0.40374	T	0.11106932	0.26250	0.16584322	0.38345	0.11106932	0.26249	0.16584322	0.38344	2.043	0.02681	T	.	.	0.201	0.48093	B	.;.;.;.	.;.;.;.	2.077585	0.26423	17.11	0.95133755111059182	0.26247	0.64585	0.32455	D	AEFDI	0.259124	0.37753	N	-0.330177039058854	0.28006	1.54125	-0.311777787764476	0.27718	1.540034	3.59687360539776E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.66	2.75	0.31439	1.237000	0.32298	3.221000	0.36854	0.676000	0.76740	0.751000	0.29144	0.999000	0.35428	0.989000	0.64315	0.1489:0.1375:0.7137:0.0	7.361	0.25919	868	0.31772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	970.33	33	chr10	23006950	.	G	C	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=683;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.399;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.02632	1597.33	38	chr10	24473904	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=797;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.067;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	18	0	1	0
chr10	24533161	24533161	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon11:c.C2387T:p.P796L,KIAA1217:NM_001282770:exon11:c.C2387T:p.P796L,KIAA1217:NM_001321681:exon12:c.C2489T:p.P830L,KIAA1217:NM_001282767:exon15:c.C3230T:p.P1077L,KIAA1217:NM_001282768:exon15:c.C3233T:p.P1078L,KIAA1217:NM_019590:exon16:c.C3338T:p.P1113L,KIAA1217:NM_001098500:exon17:c.C3098T:p.P1033L	.	424	1092	6	0	0	6	0.00273973	.	.	.	712303	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.204	.	7.7e-05	0.014377	0.0065	0.0002	8.643e-05	0.0001	0.0002	1.501e-05	0.0066	0.0469	0.0056791	878	154602	rs374052578	0.0026	0.0026	0.0015	0.0037	0.0418	0.0026	0.0025	0.0407	0.0402	0.0001	2.237e-05	3.826e-05	0.0002	0	0.0027	2.518e-05	0.0029	0.0418	0.0014	0.0014	0.0008	0.0019	0.0421	0.0012	0.0012	0.0374	0.0356	4.813e-05	0	6.542e-05	0	0.0002	0	0	0	0.0005	0.0421	0.001	0.78490	D	0.014	0.74150	D	0.985	0.90584	D	0.535	0.92359	P	0.000168	0.48594	D	0.183352	0.999998	0.58761	D	3.225	0.89467	M	0.37	0.57729	T	-4.45	0.77717	D	0.25	0.29659	-0.3542	0.73432	T	0.344	0.70956	T	10	0.003152907	0.00053	T	.	.	.	0.204	0.49076	.	.	0.733941746038	0.73157	0.31898618305290777	0.31811	0.453264928441	0.45020	0.383235931396	0.22715	T	0.622218	0.88174	D	-0.199018	0.20947	T	-0.0257958	0.68647	D	0.207521250215213	0.20823	T	0.920508	0.71260	D	0.20416829	0.42518	0.2791307	0.53879	0.20416829	0.42518	0.2791307	0.53878	-7.646	0.65491	D	.	.	0.068	0.05756	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.533528	0.49592	22.8	0.99885938527651286	0.96126	0.82877	0.42047	D	AEFDBI	0.377119	0.46101	N	0.23706804721704	0.53002	3.471266	0.213978792614642	0.50622	3.252374	0.999999719723584	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.343000	0.51884	3.747000	0.39671	0.599000	0.40250	0.939000	0.32602	0.997000	0.33255	0.402000	0.26827	0.0:1.0:0.0:0.0	15.248	0.73212	936	0.14734	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022901	0.02632	1255.33	33	chr10	24533161	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.92;DP=719;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.851;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	18	0	1	0
chr10	24533196	24533198	GAA	-	exonic	KIAA1217	.	nonframeshift deletion	KIAA1217:NM_001282769:exon11:c.2422_2424del:p.E812del,KIAA1217:NM_001282770:exon11:c.2422_2424del:p.E812del,KIAA1217:NM_001321681:exon12:c.2524_2526del:p.E846del,KIAA1217:NM_001282767:exon15:c.3265_3267del:p.E1093del,KIAA1217:NM_001282768:exon15:c.3268_3270del:p.E1094del,KIAA1217:NM_019590:exon16:c.3373_3375del:p.E1129del,KIAA1217:NM_001098500:exon17:c.3133_3135del:p.E1049del	.	425	1080	17	0	0	17	0.00780891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.00119808	0.0044	0.0020	0.0025	0.0015	0.0014	0.0056	0.0033	0.0057	0.0012294	32	26028	rs140819336	0.0061	0.0074	0.0061	0.0060	0.0069	0.0060	0.0059	0.0068	0.0067	0.0012	0.0023	0.0094	0.0010	0.0008	0.0046	0.0069	0.0059	0.0037	0.0036	0.0036	0.0040	0.0031	0.0062	0.0034	0.0033	0.0057	0.0055	0.0011	0	0.0016	0.0075	0.0006	0.0009	0	0.0062	0.0038	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025202	0.035354	0.019022	0.017544	0.000000	0.043103	0.030675	0.015152	0.02632	1299.29	33	chr10	24533195	.	GGAA	G	1299.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=707;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.3;ReadPosRankSum=-0.336;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	18	0	1	0
chr10	24545930	24545930	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001321681:exon14:c.G2792A:p.S931N,KIAA1217:NM_001282768:exon18:c.G3656A:p.S1219N,KIAA1217:NM_001098500:exon19:c.G3401A:p.S1134N,KIAA1217:NM_001282767:exon19:c.G3731A:p.S1244N,KIAA1217:NM_019590:exon21:c.G5438A:p.S1813N	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0126042120998	0.0003	0.00219649	0.0013	0	0.0002	0.0002	0	0.0004	0.0011	0.0076	0.0011449	177	154602	rs143473670	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0006	0.0064	0.0063	0	0.0002	0.0007	2.519e-05	1.872e-05	0.0049	0.0002	0.0012	0.0069	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0007	0.0072	0.0064	2.408e-05	0.0493	0.0003	0.0003	0.0002	0	0	0.0004	0.0014	0.0093	0.005	0.91255	D	0.14	0.66756	T	0.675	0.51611	P	0.372	0.51600	B	0.000515	0.43753	D	0.255120	1	0.81001	D	2.045	0.56016	M	1.1	0.39050	T	-1.05	0.33197	N	0.125	0.13341	-0.8415	0.52547	T	0.222	0.58614	T	10	0.0047720373	0.00101	T	0.012604	0.31316	T	0.071	0.20720	.	.	0.640118062485	0.63715	0.39549210144416014	0.39464	0.232989355032	0.25837	0.399860739708	0.25050	T	0.132966	0.46337	T	-0.43888	0.01313	T	-0.398351	0.33576	T	0.0396142347427551	0.03620	T	0.846715	0.60664	T	0.22282	0.44889	0.1902536	0.42418	0.22282	0.44889	0.1902536	0.42417	-6.413	0.49610	T	.	.	0.197	0.41977	B	.;.;.;.;.	.;.;.;.;.	3.294490	0.45196	22.1	0.99283069216059638	0.57973	0.91496	0.53653	D	AEFBCI	0.710878	0.66450	D	0.50443796716831	0.67350	5.070152	0.55432935422008	0.71699	5.694855	0.999984786140545	0.51787	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	4.978000	0.63517	6.415000	0.55603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.446	0.94840	941	0.13089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	2201.33	38	chr10	24545930	.	G	A	2201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=823;ExcessHet=0;FS=6.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.23;SOR=1.084	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	18	0	1	0
chr10	24591266	24591266	G	C	exonic	ARHGAP21	.	nonsynonymous SNV	ARHGAP21:NM_001367455:exon17:c.C3470G:p.T1157S,ARHGAP21:NM_001367452:exon21:c.C3638G:p.T1213S,ARHGAP21:NM_001367447:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367451:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367453:exon23:c.C4079G:p.T1360S,ARHGAP21:NM_001367448:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_001367454:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_020824:exon24:c.C4109G:p.T1370S,ARHGAP21:NM_001367449:exon25:c.C3815G:p.T1272S,ARHGAP21:NM_001367450:exon26:c.C3815G:p.T1272S	.	455	1053	13	1	0	15	0.00707214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00915019941334	7.7e-05	0.000998403	0.0010	0	0.0004	0	0	0.0003	0.0011	0.0061	0.0008603	133	154602	rs199701715	0.0005	0.0005	0.0003	0.0006	0.0057	0.0004	0.0004	0.0052	0.0051	0	0.0006	0.0005	0	0	0.0024	6.925e-05	0.0008	0.0057	0.0004	0.0004	0.0002	0.0005	0.0064	0.0003	0.0003	0.0047	0.0041	4.811e-05	0	0.0009	0.0003	0	0	0	8.82e-05	0	0.0064	0.241	0.17643	T	0.784	0.05544	T	.	.	.	.	.	.	0.000341	0.45700	N	0.251692	0.995744	0.42835	D	.	.	.	2.81	0.10975	T	-0.03	0.07444	N	0.206	0.26233	-1.0692	0.09590	T	0.026	0.11176	T	10	0.0091769695	0.00207	T	0.00915	0.24059	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.6428076379555379	0.64215	0.456773643813	0.45333	0.808417797089	0.83250	D	.	.	.	-0.631989	0.00093	T	-0.678112	0.07099	T	0.029302182148403	0.01883	T	0.692631	0.38847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29200	B	.;.;.;.	.;.;.;.	2.421349	0.31137	18.65	0.95739542380546006	0.27695	0.98203	0.80502	D	AEFGBI	0.689989	0.65047	D	-0.21159785762007	0.32657	1.844122	-0.0752320926809104	0.36418	2.119086	0.998966449906038	0.38084	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.63	3.76	0.42368	4.889000	0.62862	7.459000	0.59036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0667:0.1228:0.8105:0.0	11.879	0.51841	963	0.08280	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	679.33	35	chr10	24591266	.	G	C	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.734;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.616;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	18	0	1	0
chr10	24984815	24984815	T	C	exonic	ENKUR	.	nonsynonymous SNV	ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G	.	430	1091	1	0	0	1	0.000458085	.	.	.	2813049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00300766377726	0.0047	0.000998403	0.0045	0.0015	0.0024	0	0.0082	0.0066	0.0044	0.0002	0.0043466	672	154602	rs33980615	0.0056	0.0056	0.0056	0.0056	0.0063	0.0055	0.0055	0.0062	0.0062	0.0009	0.0038	0.0077	0	0.0080	0.0010	0.0063	0.0049	0.0002	0.0050	0.0050	0.0050	0.0050	0.0066	0.0047	0.0046	0.0061	0.0059	0.0016	0.0571	0.0054	0.0081	0	0.0066	0.0034	0.0066	0.0052	0.0004	0.028	0.46129	D	0.051	0.50809	T	0.772	0.43974	P	0.243	0.45338	B	0.024490	0.26253	N	0.453783	0.852969	0.28469	N	1.15	0.29295	L	.	.	.	-4.28	0.76334	D	0.271	0.30687	-0.9987	0.30283	T	0.076	0.30492	T	9	0.007371098	0.00167	T	0.003008	0.06457	T	0.063	0.18251	.	.	0.167679373172	0.16340	0.5162962841369829	0.51552	0.0930623830389	0.10513	0.360368400812	0.19439	T	0.075543	0.39389	T	-0.480793	0.00731	T	-0.460513	0.26542	T	0.054717674851808	0.06311	T	0.830717	0.49671	T	0.27724168	0.50783	0.28843197	0.54859	0.27724168	0.50783	0.28843197	0.54858	-8.943	0.67329	D	.	.	0.185	0.42022	B	.;.;.	.;.;.	3.715587	0.53073	23.3	0.99604770556135558	0.74456	0.80506	0.40126	D	AEFBI	0.440438	0.49900	N	0.110078104043824	0.46933	2.926148	0.171421204741629	0.48289	3.046753	0.00436624500466336	0.10516	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	1.322000	0.33295	7.875000	0.72177	0.665000	0.62972	0.799000	0.29708	1.000000	0.68203	0.881000	0.42162	0.0:0.0:0.1473:0.8527	11.740	0.51055	529	0.73716	Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	831.33	37	chr10	24984815	.	T	C	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.364;DP=701;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.049;SOR=0.92	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	25024235	25024235	T	C	exonic	THNSL1	.	nonsynonymous SNV	THNSL1:NM_024838:exon3:c.T1012C:p.F338L	.	.	.	.	.	.	.	.	.	.	.	2304223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.00675412939819	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs770714996	4.788e-06	4.788e-06	6.806e-06	2.75e-06	0.0002	1.99e-06	1.28e-06	6.511e-05	4.449e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.078	0.42261	T	0.924	0.51285	P	0.604	0.50922	P	0.000018	0.62929	D	0.119442	0.999948	0.51968	D	2.27	0.64531	M	2.8	0.11082	T	-3.56	0.68880	D	0.489	0.55366	-1.1776	0.00406	T	0.052	0.22076	T	10	0.4779053	0.60255	T	0.006754	0.17840	T	0.264	0.57741	0.62	0.75461	0.514299272149	0.51072	0.6418009753362701	0.64115	0.225655045092	0.25111	0.739832162857	0.72948	T	0.052241	0.29105	T	-0.250113	0.14085	T	-0.332618	0.41176	T	0.624580791318386	0.37394	D	0.859314	0.55085	D	0.5550351	0.70235	0.5598365	0.74534	0.5550351	0.70236	0.5598365	0.74534	-7.06	0.54471	T	.	.	0.937	0.85861	P	.;.	.;.	4.494762	0.70240	25.5	0.99807238755474526	0.89174	0.98274	0.81158	D	AEFBI	0.932137	0.92203	D	0.633778079950088	0.75322	6.285597	0.668267281529335	0.79976	7.197907	0.999999999758416	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.71	5.71	0.89031	7.673000	0.82956	7.921000	0.74526	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	15.989	0.79982	667	0.61242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2297.33	33	chr10	25024235	.	T	C	2297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.884;DP=2123;ExcessHet=0;FS=4.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=1.71;SOR=1.076	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	18	0	1	0
chr10	25175499	25175499	G	A	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon1:c.G79A:p.D27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0610007658129	.	0.000199681	8.735e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs550687410	3.426e-06	4.104e-06	2.726e-06	4.132e-06	5.976e-05	1e-06	7.3e-07	9.9e-06	3.7e-06	5.976e-05	0	0	0	0	0	0	3.315e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.341	0.17964	T	0.553	0.38185	P	0.059	0.26602	B	0.573786	0.11212	N	0.771452	0.74765	0.29671	N	0.69	0.16971	N	-0.15	0.65192	T	-0.49	0.15578	N	0.422	0.46180	-0.8888	0.49038	T	0.140	0.45828	T	10	0.12563601	0.23877	T	0.061001	0.68189	D	0.155	0.40530	0.141	0.04462	0.544465720096	0.54100	0.28474325269575573	0.28387	1.02746352211	0.75325	0.46606618166	0.34141	T	0.006198	0.05637	T	-0.372655	0.03461	T	-0.589679	0.13694	T	0.0970769916248379	0.12031	T	0.611639	0.23235	T	0.12291407	0.28872	0.14003214	0.33391	0.12291407	0.28872	0.14003214	0.33390	-4.465	0.30428	T	.	.	0.118	0.23986	B	.	.	3.194204	0.43412	21.7	0.99618928488262004	0.75293	0.69910	0.34376	D	AEFDBCI	0.509984	0.53922	D	-0.0112242132178896	0.41347	2.471514	0.10487946743647	0.44798	2.754615	0.99997610696266	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.72	4.72	0.59248	2.844000	0.47946	11.346000	0.92564	0.614000	0.49286	0.938000	0.32564	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	15.217	0.72964	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1655.33	34	chr10	25175499	.	G	A	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.333;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	18	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	493.79	37	chr10	25412396	.	A	G	493.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.433;DP=1099;ExcessHet=0.3672;FS=177.802;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=0.806;SOR=9.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	0	3	0
chr10	26153916	26153916	T	A	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon24:c.T2702A:p.I901N	Deafness, autosomal recessive 30, Autosomal recessive	9	1509	3	1	0	5	0.00165399	.	.	.	1187573	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0877569324189	.	.	0.0003	0	9.024e-05	0	0	4.759e-05	0.0012	0.0017	0.000207	32	154602	rs201572198	0.0001	0.0001	4.708e-05	0.0002	0.0015	9.956e-05	9.363e-05	0.0013	0.0012	0	4.48e-05	0	0	0	0.0002	2.106e-05	0.0001	0.0015	0.0002	0.0002	7.709e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0048	0.026	0.46910	D	0.48	0.11899	T	0.464	0.36423	P	0.219	0.37734	B	0.617288	0.05735	N	1.169820	1	0.08975	N	0.765	0.19305	N	-2.16	0.86549	D	-1.52	0.36980	N	0.479	0.51405	-0.6805	0.61349	T	0.428	0.77094	T	10	0.020038426	0.00456	T	0.087757	0.75000	D	0.187	0.46274	0.404	0.43573	0.675970969783	0.67322	0.37793496893378564	0.37708	0.159575760648	0.18006	0.391041517258	0.23817	T	0.232549	0.59914	T	-0.360446	0.04105	T	-0.331065	0.41350	T	0.0411437831546965	0.03898	T	0.690631	0.30012	T	0.12899847	0.30142	0.14977875	0.35351	0.18969378	0.40522	0.1897173	0.42332	-2.183	0.03959	T	.	.	0.076	0.05935	B	.;.	.;.	2.092374	0.26615	17.18	0.93529487529899791	0.23350	0.58835	0.30750	D	AEGI	0.161895	0.28801	N	-0.607299151877301	0.18723	0.9744044	-0.590975205133298	0.19727	1.059745	4.97661112905357E-5	0.03989	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	0.146	0.14129	0.403000	0.20706	0.071000	0.14262	0.665000	0.62972	0.953000	0.33222	0.000000	0.08366	0.925000	0.46118	0.0:0.4238:0.0:0.5762	9.601	0.38765	914	0.21048	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1150.33	34	chr10	26153916	.	T	A	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=700;ExcessHet=0;FS=5.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-1.34;SOR=1.312	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	18	0	1	0
chr10	26193228	26193228	A	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon32:c.A4462G:p.K1488E	Deafness, autosomal recessive 30, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	54980	not_specified|MYO3A-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_30	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0091853	0.0038	0.0004	0.0005	0.0468	0	0.0001	0.0078	0.0022	0.0035769	553	154602	rs34204285	0.0014	0.0014	0.0014	0.0014	0.0371	0.0013	0.0013	0.0355	0.0349	0.0001	0.0005	0.0004	0.0371	3.744e-05	0.0009	0.0001	0.0035	0.0020	0.0019	0.0019	0.0015	0.0022	0.0443	0.0017	0.0016	0.0396	0.0378	0.0002	0	0.0003	0.0006	0.0443	0	0	0.0002	0.0024	0.0040	0.016	0.51853	D	0.642	0.06925	T	0.172	0.28767	B	0.039	0.23607	B	0.001712	0.38216	N	0.205205	1	0.81001	D	2.3	0.65703	M	-1.24	0.78967	T	-0.7	0.19933	N	0.427	0.46649	-0.6949	0.60680	T	0.113	0.40238	T	10	0.0026059747	0.00040	T	.	.	.	0.330	0.65226	.	.	0.724707331122	0.72227	0.2257854881004078	0.22493	0.135218752147	0.15242	0.435636490583	0.29980	T	0.078743	0.35965	T	-0.343265	0.05165	T	-0.228608	0.51907	T	0.0235568176883694	0.01090	T	0.690631	0.30012	T	0.1803263	0.39148	0.20350984	0.44430	0.18216106	0.39422	0.24180095	0.49584	-3.354	0.14444	T	.	.	0.104	0.18950	B	.;.	.;.	3.350417	0.46210	22.3	0.99669763922141774	0.78523	0.92801	0.56579	D	AEI	0.372875	0.45835	N	0.0820892895582391	0.45629	2.816178	0.240005398609992	0.52082	3.385608	0.00328900672472646	0.10034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	3.729000	0.54724	9.245000	0.79449	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.994000	0.71098	0.8461:0.1539:0.0:0.0	11.130	0.47566	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	2461.83	33	chr10	26193228	.	A	G	2461.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.722;DP=755;ExcessHet=0.119;FS=1.243;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.06;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1336	17	0	2	0
chr10	26193250	26193250	G	A	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon32:c.G4484A:p.R1495Q	Deafness, autosomal recessive 30, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	1935488	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.479	0.113754412111	.	0.000599042	4.161e-05	0	0	0.0006	0	0	0	0	7.12e-05	11	154602	rs200079299	2.531e-05	2.599e-05	2.314e-05	2.75e-05	0.0006	1.868e-05	1.631e-05	0.0004	0.0004	0	0	0	0.0006	0	0	8.094e-06	4.967e-05	1.159e-05	6.58e-05	6.565e-05	3.861e-05	9.426e-05	0.0017	3.521e-05	2.62e-05	0.0009	0.0007	2.413e-05	0	0	0	0.0017	0	0	0	0	0	0.006	0.61437	D	0.344	0.17804	T	1.0	0.90584	D	0.994	0.82059	D	0.000037	0.55875	D	0.123352	0.98694	0.81001	D	2.535	0.73915	M	-1.72	0.83241	D	-1.4	0.34596	N	0.522	0.55193	0.299	0.87551	D	0.600	0.85740	D	10	0.11554712	0.21771	T	0.113754	0.79237	D	0.479	0.77012	.	.	0.932662659516	0.93197	0.33203882396136863	0.33116	0.407976113078	0.41643	0.548724234104	0.45677	T	0.087226	0.37897	T	-0.234052	0.16115	T	-0.112341	0.62424	T	0.361885010786427	0.27482	T	0.870213	0.57527	D	0.2875269	0.51763	0.21673688	0.46312	0.2875269	0.51762	0.21673688	0.46311	-3.721	0.19628	T	.	.	0.277	0.51059	B	.;.	.;.	5.059725	0.84328	28.3	0.99955895650834736	0.99975	0.96045	0.67284	D	AEFI	0.743891	0.68705	D	0.786231737345388	0.85237	8.516455	0.787883660826088	0.88938	9.774559	0.918590398998485	0.26576	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	6.114000	0.71248	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.594	0.87906	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1207.33	33	chr10	26193250	.	G	A	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=709;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=2.06;SOR=0.859	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1336	18	0	1	0
chr10	26709708	26709708	T	G	exonic	PDSS1	.	nonsynonymous SNV	PDSS1:NM_001321978:exon5:c.T407G:p.F136C,PDSS1:NM_014317:exon5:c.T407G:p.F136C	Coenzyme Q10 deficiency, primary, 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	142384	PDSS1-related_disorder|not_provided|not_specified|Deafness-encephaloneuropathy-obesity-valvulopathy_syndrome	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013837,MedGen:C3553354,OMIM:614651,Orphanet:254898	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.634	.	0.0008	0.013778	0.0090	0.0013	0.0626	0.0221	0	0.0002	0.0055	0.0090	0.0085769	1326	154602	rs77826284	0.0032	0.0032	0.0032	0.0032	0.0602	0.0031	0.0031	0.0583	0.0576	0.0006	0.0602	0	0.0236	0	0.0003	8.995e-05	0.0028	0.0090	0.0057	0.0057	0.0048	0.0068	0.0409	0.0054	0.0053	0.0383	0.0372	0.0013	0	0.0409	0	0.0253	0	0	0.0001	0.0033	0.0095	0.005	0.63226	D	0.01	0.65728	D	0.988	0.62325	D	0.886	0.62898	P	0.000002	0.62929	D	0.100250	0.999999	0.58761	D	3.155	0.88459	M	-0.03	0.63077	T	-4.24	0.76015	D	0.776	0.77319	-0.2788	0.75574	T	0.184	0.53225	T	10	0.016029805	0.00337	T	.	.	.	0.634	0.85975	.	.	.	.	0.8971605862087001	0.89687	1.48208250732	0.86723	0.515962660313	0.41058	T	0.845572	0.96437	D	-0.164683	0.26042	T	0.0377814	0.72782	D	0.0411972203824482	0.03907	T	0.952205	0.81731	D	0.93855476	0.95100	0.840415	0.90865	0.92850614	0.94088	0.840415	0.90866	-11.524	0.82456	D	0.7433915605781065	0.82547	0.708	0.73301	P	.	.	5.066377	0.84472	28.3	0.99550268473746251	0.71086	0.97863	0.77695	D	AEFDBI	0.930732	0.91847	D	0.831021594565277	0.88001	9.417777	0.781511075983812	0.88479	9.597732	0.999982022486272	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.525792	0.08840	0	.	.	5.26	5.26	0.73479	7.627000	0.82366	6.181000	0.54632	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.124	0.72149	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1022.33	34	chr10	26709708	.	T	G	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=778;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.702;SOR=0.59	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1183	18	0	1	0
chr10	27040008	27040008	C	G	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon21:c.G2329C:p.E777Q,ANKRD26:NM_014915:exon21:c.G2332C:p.E778Q	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	429057	not_provided|Thrombocytopenia_2|not_specified	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	0.00804337735528	0.0031	0.000998403	0.0024	0.0009	0.0002	0	0.0032	0.0038	0.0011	0.0004	0.0024709	382	154602	rs139949439	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0038	0.0037	0.0003	0.0003	0.0034	0	0.0039	0.0012	0.0039	0.0025	0.0004	0.0024	0.0024	0.0025	0.0023	0.0040	0.0022	0.0021	0.0036	0.0034	0.0007	0	0.0003	0.0043	0	0.0038	0.0034	0.0040	0.0014	0.0004	0.011	0.57480	D	0.016	0.60972	D	.	.	.	.	.	.	0.001626	0.38439	N	0.107097	0.742407	0.33837	D	.	.	.	2.05	0.20664	T	-2.33	0.51646	N	0.22	0.24634	-0.8159	0.54189	T	0.093	0.35363	T	10	0.009538174	0.00215	T	0.008043	0.21316	T	0.143	0.38195	.	.	0.191931220699	0.18833	0.021920457238004763	0.02144	0.321927182123	0.34392	0.471723377705	0.34917	T	.	.	.	-0.529621	0.00386	T	-0.532725	0.19015	T	0.0117877763103769	0.00182	T	0.757524	0.40183	T	0.23643762	0.46494	0.12840404	0.30892	0.2508831	0.48093	0.20584676	0.44771	-8.362	0.63512	D	.	.	0.184	0.44961	B	.;.	.;.	4.127530	0.61742	24.4	0.99633567398057377	0.76203	0.87344	0.46855	D	AEFBI	0.215577	0.34092	N	0.350702770356115	0.58776	4.052094	0.226348051063712	0.51313	3.315016	7.51589156617231E-4	0.07758	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.18	3.32	0.37134	3.955000	0.56422	0.778000	0.21455	0.541000	0.25215	1.000000	0.71638	0.003000	0.18671	0.998000	0.85391	0.0:0.8287:0.0:0.1713	9.765	0.39722	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	754.33	34	chr10	27040008	.	C	G	754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.542;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	18	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.02632	1630.33	35	chr10	27186516	.	G	A	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1242;ExcessHet=0;FS=3.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.354;SOR=0.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1344	18	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	68.83	34	chr10	27204498	.	T	C	68.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.008;DP=834;ExcessHet=0.119;FS=170.167;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.22;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1181:.	17	0	2	0
chr10	27240384	27240384	G	A	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001271512:exon1:c.C110T:p.T37M,ACBD5:NM_001352571:exon1:c.C110T:p.T37M,ACBD5:NM_001352586:exon1:c.C110T:p.T37M,ACBD5:NM_001352587:exon1:c.C110T:p.T37M,ACBD5:NM_001042473:exon2:c.C11T:p.T4M,ACBD5:NM_001352568:exon2:c.C137T:p.T46M,ACBD5:NM_001352569:exon2:c.C116T:p.T39M,ACBD5:NM_001352570:exon2:c.C116T:p.T39M,ACBD5:NM_001352572:exon2:c.C137T:p.T46M,ACBD5:NM_001352573:exon2:c.C116T:p.T39M,ACBD5:NM_001352574:exon2:c.C11T:p.T4M,ACBD5:NM_001352575:exon2:c.C11T:p.T4M,ACBD5:NM_001352576:exon2:c.C11T:p.T4M,ACBD5:NM_001352577:exon2:c.C11T:p.T4M,ACBD5:NM_001352578:exon2:c.C11T:p.T4M,ACBD5:NM_001352579:exon2:c.C11T:p.T4M,ACBD5:NM_001352580:exon2:c.C11T:p.T4M,ACBD5:NM_001352581:exon2:c.C116T:p.T39M,ACBD5:NM_001352582:exon2:c.C11T:p.T4M,ACBD5:NM_001352588:exon2:c.C116T:p.T39M,ACBD5:NM_145698:exon2:c.C116T:p.T39M	.	420	1078	23	1	0	25	0.0114626	.	.	.	737443	not_provided|ACBD5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0007	0.00159744	0.0034	0.0003	0.0007	0.0002	0.0060	0.0024	0.0088	0.0114	0.002846	440	154602	rs41282238	0.0019	0.0019	0.0016	0.0023	0.0112	0.0019	0.0018	0.0106	0.0104	0.0002	0.0004	0.0061	7.557e-05	0.0058	0.0066	0.0010	0.0024	0.0112	0.0018	0.0018	0.0014	0.0023	0.0116	0.0016	0.0016	0.0092	0.0083	0.0002	0.0219	0.0002	0.0046	0.0002	0.0063	0.0068	0.0015	0.0029	0.0116	0.005	0.68238	D	0.016	0.60972	D	1.0	0.90584	D	0.927	0.66185	D	0.004502	0.33669	N	0.360028	0.994384	0.81001	D	0.805	0.20218	L	2.4	0.25509	T	-1.48	0.37566	N	0.312	0.35194	-0.9898	0.32652	T	0.108	0.39075	T	10	0.00437513	0.00089	T	.	.	.	0.135	0.36572	.	.	0.532311620844	0.52880	0.24715788570884184	0.24629	2.30488031714	0.96506	0.489432364702	0.37359	T	0.014439	0.15105	T	-0.460292	0.00979	T	-0.423566	0.30667	T	0.0278995960609738	0.01674	T	0.79912	0.73561	T	0.15304875	0.34711	0.31860933	0.57828	0.16137412	0.36141	0.24936178	0.50505	-6.309	0.49314	T	0.5477963200598464	0.61671	0.112	0.34361	B	.;.;.;.;.;.	.;.;.;.;.;.	3.974559	0.58384	24.0	0.99852887865356199	0.93191	0.88082	0.47856	D	AEFDGBHCI	0.672686	0.63900	D	0.492685321266477	0.66661	4.979143	0.506299029287174	0.68412	5.216603	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.87	4.87	0.62877	4.171000	0.58029	5.662000	0.49222	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.989000	0.64315	0.0:0.0:1.0:0.0	18.381	0.90395	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.000000	0.009146	0.015152	0.02632	1803.33	36	chr10	27240384	.	G	A	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=813;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.113;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	27399160	27399160	A	G	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.T1438C:p.S480P	.	426	1091	5	0	0	5	0.00228624	.	.	.	2435505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.0950300981948	0.0002	.	0.0003	9.677e-05	0.0009	0	0	0.0003	0	6.064e-05	0.0002975	46	154602	rs199572862	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0004	0.0006	0	0	0	0.0026	0.0002	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.052	0.39097	T	0.046	0.49120	D	0.995	0.67487	D	0.926	0.66095	D	0.009896	0.30155	N	0.327917	0.660899	0.30450	N	2.3	0.65703	M	-2.06	0.85875	D	-2.78	0.58896	D	0.383	0.49602	0.301	0.87581	D	0.658	0.88129	D	10	0.28731513	0.46314	T	0.09503	0.76356	D	0.509	0.78910	.	.	0.32980341726	0.32591	.	.	0.456698694381	0.45327	0.351528823376	0.18147	T	0.486186	0.81278	T	-0.218302	0.18224	T	-0.180267	0.56499	T	0.158306524157524	0.17745	T	.	.	.	0.87295717	0.89098	0.80797505	0.88772	0.87295717	0.89099	0.80797505	0.88773	-7.786	0.59602	D	.	.	0.463	0.62854	A	.;.	.;.	2.713334	0.35474	19.91	0.98755915642568248	0.45739	0.73810	0.36103	D	AEFI	0.309251	0.41560	N	-0.0656492539124449	0.38906	2.285984	-0.290765345741203	0.28401	1.583345	2.23117212727007E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.84	-0.52	0.11340	2.136000	0.41744	1.650000	0.27840	0.587000	0.30956	1.000000	0.71638	0.921000	0.28324	0.419000	0.27206	0.2746:0.7254:0.0:0.0	12.796	0.56942	449	0.79428	Sterol-sensing domain;Sterol-sensing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.010101	0.005450	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1235.33	88	chr10	27399160	.	A	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=1703;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.46;SOR=0.565	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr10	27853302	27853302	G	A	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon13:c.C1658T:p.P553L	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.000952662200715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227373901	2.656e-05	9.224e-05	2.368e-05	2.828e-05	0.0001	7.06e-06	2.96e-06	3.911e-05	2.055e-05	0	0	0	0	0	0	0	0	0.0001	1.319e-05	0.0002	0	2.698e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.73	6	chr10	27853302	.	G	A	62.73	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.524;DP=113;ExcessHet=0;FS=0;InbreedingCoeff=-0.0491;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:21:.:.:0,21,221:.	18	0	1	0
chr10	27862453	27862453	A	C	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon11:c.T1355G:p.L452W,ARMC4:NM_001312689:exon13:c.T1856G:p.L619W,ARMC4:NM_001290020:exon18:c.T2780G:p.L927W,ARMC4:NM_018076:exon18:c.T2780G:p.L927W	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	76951	Primary_ciliary_dyskinesia_23|Kartagener_syndrome	MONDO:MONDO:0014193,MedGen:C3809548,OMIM:615451,Orphanet:244|MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.721	0.11981222982	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587777047	6.864e-07	6.84e-07	0	1.38e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000031	0.55875	D	0.081935	0.999995	0.58761	D	3.32	0.90714	M	0.73	0.50721	T	-5.53	0.86073	D	0.971	0.98167	0.443	0.89732	D	0.668	0.88504	D	10	0.8296648	0.82133	D	0.119812	0.80021	D	0.721	0.90146	0.544	0.65731	0.701847727984	0.69926	0.8649776511258799	0.86461	0.724374331737	0.62386	0.722423672676	0.70400	T	0.350579	0.71827	T	0.304935	0.83359	D	0.200241	0.83143	D	0.997721970081329	0.92263	D	0.934707	0.75503	D	0.79622835	0.83666	0.77356124	0.86636	0.79622835	0.83667	0.77356124	0.86637	-15.42	0.96759	D	.	.	0.983	0.91726	P	.	.	4.568674	0.72067	25.8	0.95915171398910948	0.28169	0.97927	0.78187	D	AEFI	0.909168	0.86545	D	0.705382199920102	0.79984	7.195057	0.617257272319801	0.76193	6.446054	0.126770319556987	0.17006	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.9	4.74	0.59717	6.174000	0.71864	7.921000	0.74526	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.9327:0.0:0.0673:0.0	12.125	0.53213	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1340.33	33	chr10	27862453	.	A	C	1340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=718;ExcessHet=0;FS=1.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.04;SOR=0.491	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr10	27940663	27940663	C	T	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon6:c.G461A:p.R154H,ARMC4:NM_001312689:exon8:c.G962A:p.R321H,ARMC4:NM_001290020:exon13:c.G1886A:p.R629H,ARMC4:NM_018076:exon13:c.G1886A:p.R629H	Ciliary dyskinesia, primary, 23, Autosomal recessive	437	1084	1	0	0	1	0.000461042	.	.	.	2724388	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.0555541961788	.	.	0.0001	0	0	0.0001	0	0.0002	0	0.0001	9.7e-05	15	154602	rs200127444	3.352e-05	3.42e-05	2.859e-05	3.85e-05	8.944e-05	2.566e-05	2.312e-05	2.985e-05	1.804e-05	0	8.944e-05	3.826e-05	5.04e-05	9.36e-05	0	2.608e-05	4.968e-05	5.797e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.09	0.31987	T	0.083	0.41405	T	0.991	0.64070	D	0.781	0.57337	P	0.000049	0.53742	D	0.199089	1	0.81001	D	2.655	0.77738	M	-0.46	0.70014	T	-3.52	0.68412	D	0.261	0.29544	-0.1958	0.77780	T	0.433	0.77400	T	10	0.4708116	0.59850	T	0.055554	0.66278	D	0.445	0.74727	.	.	0.751722793294	0.74947	0.45568859813155155	0.45486	0.334685067799	0.35479	0.612229585648	0.54632	T	0.036128	0.23985	T	-0.0608526	0.42773	T	-0.109852	0.62624	T	0.62289822101593	0.37325	D	0.932307	0.74741	D	0.18000224	0.39099	0.13934085	0.33249	0.16128056	0.36126	0.14997564	0.35389	-9.01	0.67762	D	.	.	0.242	0.47665	B	.	.	4.099795	0.61118	24.3	0.99843080508588689	0.92316	0.97230	0.73460	D	AEFI	0.760002	0.69816	D	0.236448570553788	0.52972	3.468376	0.155749874950354	0.47448	2.974834	0.993621760669401	0.33289	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.24	4.3	0.50540	5.818000	0.68915	3.990000	0.40980	0.594000	0.32500	1.000000	0.71638	0.999000	0.35428	0.031000	0.13245	0.0:0.8632:0.1368:0.0	15.793	0.78155	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2329.33	38	chr10	27940663	.	C	T	2329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.345;DP=806;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.22;SOR=0.611	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.05556	75.59	34	chr10	29490860	.	C	T	75.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.766;DP=1348;ExcessHet=0.119;FS=30.261;InbreedingCoeff=-0.0708;MLEAC=2;MLEAF=0.056;MQ=58.45;MQRankSum=-11.02;QD=0.31;ReadPosRankSum=-3.715;SOR=2.54	GT:AD:DP:GQ:PL	0/0:133,0:133:66:0,66,3514	16	0	2	1
chr10	29530647	29530647	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_001323600:exon10:c.G884A:p.R295Q,SVIL:NM_003174:exon10:c.G884A:p.R295Q,SVIL:NM_021738:exon11:c.G2066A:p.R689Q,SVIL:NM_001323599:exon12:c.G1136A:p.R379Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.037088609864	.	0.000199681	4.942e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs528457608	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0003	1.739e-05	1.539e-05	0.0003	0.0002	5.975e-05	2.236e-05	0	0	0	0	1.799e-06	0	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.007	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999895	0.52935	D	1.845	0.48678	L	-0.19	0.65931	T	-2.33	0.54702	N	0.814	0.80964	-0.1888	0.77958	T	0.454	0.78697	T	9	0.3523305	0.52064	T	0.037089	0.57399	D	0.330	0.65226	0.218	0.13932	0.525714745541	0.52218	0.19749533526864108	0.19666	0.937855584435	0.72103	0.513355910778	0.40691	T	0.163101	0.50803	T	-0.0386358	0.46153	T	0.00704972	0.70793	D	0.558598935604095	0.34802	D	0.969603	0.89085	D	0.62788785	0.74185	0.54111	0.73478	0.62788785	0.74186	0.54111	0.73479	-11.882	0.84271	D	0.7360478524938738	0.81794	0.342	0.67428	A	.;.;.	.;.;.	4.853052	0.79340	27.1	0.99959555143618806	0.99994	0.97351	0.74201	D	AEFDBHCI	0.867796	0.78770	D	0.761676816128957	0.83662	8.076751	0.723566727596967	0.84169	8.217487	0.999999999993266	0.74766	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.343000	0.78559	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	19.571	0.95412	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	35	chr10	29530647	.	C	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=789;ExcessHet=0;FS=3.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.26;SOR=0.438	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1329	18	0	1	0
chr10	29532101	29532101	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon9:c.G1910A:p.R637Q,SVIL:NM_001323599:exon10:c.G980A:p.R327Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	2388521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0203691002389	0.0002	0.000199681	8.237e-05	0.0002	0	0.0003	0	2.997e-05	0	0.0002	9.7e-05	15	154602	rs202239155	4.652e-05	4.652e-05	3.676e-05	5.638e-05	0.0003	3.728e-05	3.412e-05	0.0002	0.0002	5.975e-05	2.236e-05	0	0.0002	0	0	2.518e-05	4.969e-05	0.0003	9.193e-05	9.186e-05	8.993e-05	9.402e-05	0.0006	5.524e-05	4.362e-05	0.0002	8.378e-05	0.0002	0	0	0	0.0006	0	0	5.88e-05	0	0	0.007	0.59928	D	0.271	0.22291	T	0.509	0.37289	P	0.051	0.25434	B	0.005494	0.32753	N	0.244558	0.997313	0.81001	D	1.485	0.37223	L	1.0	0.41392	T	-1.1	0.28497	N	0.301	0.34012	-0.9988	0.30255	T	0.106	0.38611	T	9	0.07679802	0.12041	T	0.020369	0.42951	T	0.054	0.15330	.	.	0.368770208536	0.36493	0.32640377174312074	0.32553	0.336749737354	0.35668	0.408451676369	0.26243	T	0.023819	0.18113	T	-0.308139	0.07912	T	-0.350396	0.39159	T	0.0400673921110766	0.03702	T	0.884412	0.60756	D	0.18157452	0.39334	0.115541	0.27891	0.18157452	0.39333	0.115541	0.27890	-5.473	0.44505	T	.	.	0.132	0.29751	B	.;.	.;.	4.453267	0.69239	25.3	0.99900370659265669	0.97199	0.96837	0.71207	D	AEFBI	0.527064	0.54916	D	0.154154550877619	0.49010	3.106193	0.238976424687645	0.52023	3.380254	0.993716114700385	0.33326	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	4.51	0.54589	4.124000	0.57676	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9277:0.0:0.0723	14.124	0.64742	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	33	chr10	29532101	.	C	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=730;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.186;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	18	0	1	0
chr10	29532579	29532579	C	G	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.G1788C:p.Q596H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0292126663371	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs748559612	6.159e-06	6.157e-06	6.808e-06	5.504e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.035	0.56640	D	0.998	0.73220	D	0.962	0.70672	D	0.000005	0.62929	D	0.000000	0.997772	0.81001	D	2.535	0.73915	M	1.0	0.41392	T	-1.61	0.38734	N	0.775	0.77226	-0.7183	0.59546	T	0.236	0.60367	T	9	0.6080988	0.67289	D	0.029213	0.51767	D	0.224	0.52174	0.55	0.66576	0.548303776118	0.54485	0.5046366246775891	0.50385	0.694811052144	0.60787	0.505199491978	0.39553	T	0.113475	0.43054	T	-0.0471763	0.44874	T	-0.305542	0.44136	T	0.979324638843536	0.72774	D	0.955104	0.82903	D	0.35801262	0.57684	0.32969213	0.58846	0.35801262	0.57684	0.32969213	0.58845	-7.752	0.60790	D	.	.	0.599	0.68825	P	.;.	.;.	3.357238	0.46337	22.3	0.99762487347733242	0.85172	0.96297	0.68452	D	AEFBI	0.534356	0.55343	D	0.626673271479578	0.74866	6.206197	0.616311105189955	0.76122	6.433542	0.999959021305491	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.65	5.65	0.86881	1.793000	0.38397	1.089000	0.23963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9276:0.0:0.0724	13.954	0.63643	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1417.33	34	chr10	29532579	.	C	G	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.586;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.052;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	18	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.02632	1267.33	38	chr10	29533429	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.75;DP=806;ExcessHet=0;FS=3.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.211;SOR=0.409	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	32018536	32018536	G	A	exonic	KIF5B	.	nonsynonymous SNV	KIF5B:NM_004521:exon21:c.C2333T:p.A778V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.183617537704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.141	0.33442	T	0.963	0.55692	D	0.839	0.60107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.49	0.81235	T	-3.12	0.63782	D	0.608	0.62526	0.466	0.90059	D	0.663	0.88314	D	10	0.66182333	0.70198	D	0.183618	0.85696	D	0.541	0.80842	0.1	0.01484	0.65428046772	0.65140	0.4212017276699165	0.42036	1.22561102355	0.81198	0.840785741806	0.88214	D	0.670654	0.90220	D	0.199361	0.73832	D	0.0485922	0.73492	D	0.973160803318024	0.69986	D	0.978652	0.92496	D	0.3930181	0.60245	0.35077143	0.60681	0.3930181	0.60246	0.35077143	0.60681	-9.682	0.71986	D	.	.	0.967	0.88913	P	.	.	5.571381	0.92222	32	0.99905678220591743	0.97651	0.99869	0.99902	D	AEFGBI	0.883993	0.81333	D	0.843444946677632	0.88730	9.690119	0.808590452815072	0.90386	10.38289	0.999999999986624	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	9.355000	0.96491	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.416	0.90516	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1749.33	35	chr10	32018536	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.179;DP=764;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-1.067;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr10	32491945	32491945	C	T	exonic	CCDC7	.	stopgain	CCDC7:NM_001026383:exon10:c.C820T:p.R274X,CCDC7:NM_001321115:exon10:c.C820T:p.R274X,CCDC7:NM_145023:exon10:c.C820T:p.R274X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0005	0	0.0045	0.0001	0	3.005e-05	0	0	0.0003622	56	154602	rs374291544	9.501e-05	0.0001	0.0001	8.643e-05	0.0027	8.187e-05	7.645e-05	0.0023	0.0021	3.204e-05	0.0027	0	2.663e-05	0	0	2.557e-05	0	1.295e-05	7.892e-05	7.877e-05	5.147e-05	0.0001	0.0006	4.501e-05	3.515e-05	0.0003	0.0002	2.409e-05	0	0.0006	0	0.0002	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.291	0.32921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0206635	0.54471	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	6.383760	0.95121	34	0.9916031048121744	0.54071	0.02176	0.06375	N	AEFI	0.045197	0.07365	N	-0.00290936198806002	0.41724	2.500848	-0.350621957098201	0.26489	1.46349	1.91015842062165E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.13	2.19	0.26890	0.563000	0.23250	0.961000	0.22991	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.3393:0.6607:0.0:0.0	9.493	0.38134	830	0.39242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	663.33	34	chr10	32491945	.	C	T	663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.993;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	18	0	1	0
chr10	32664064	32664064	T	A	exonic	CCDC7	.	nonsynonymous SNV	CCDC7:NM_001321115:exon22:c.T2025A:p.D675E	.	1295	225	2	0	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0012225	189	154602	rs78766756	0.0103	0.0041	0.0103	0.0103	0.0115	0.0100	0.0098	0.0111	0.0109	0.0020	0.0089	0.0093	4.421e-05	0.0189	0.0063	0.0115	0.0084	0	0.0087	0.0087	0.0079	0.0095	0.0112	0.0083	0.0082	0.0106	0.0103	0.0018	0.0439	0.0075	0.0043	0	0.0278	0.0068	0.0112	0.0095	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004268348	0.00085	T	.	.	.	.	.	.	.	.	.	0.001276299474059406	0.00117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273273	0.04638	T	0.03778545	0.04910	0.05448561	0.09379	0.03778545	0.04909	0.05448561	0.09379	-0.899	0.00894	T	.	.	0.167	0.36752	B	.	.	-1.480309	0.00307	0.005	0.73325049313239288	0.10287	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	2.07638469947806E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	2.23	-4.47	0.03278	-3.556000	0.00482	-20.000000	0.00162	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3572:0.1355:0.0:0.5073	4.474	0.11145	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	437.33	35	chr10	32664064	.	T	A	437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=651;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.042;SOR=0.892	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,926	18	0	1	0
chr10	33213442	33213442	T	C	exonic	NRP1	.	nonsynonymous SNV	NRP1:NM_001024628:exon9:c.A1558G:p.S520G,NRP1:NM_001024629:exon9:c.A1558G:p.S520G,NRP1:NM_001244972:exon9:c.A1558G:p.S520G,NRP1:NM_001244973:exon9:c.A1558G:p.S520G,NRP1:NM_001330068:exon9:c.A1558G:p.S520G,NRP1:NM_003873:exon9:c.A1558G:p.S520G	.	.	.	.	.	.	.	.	.	.	.	3509518	NRP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.940	0.429340993472	.	0.000998403	0.0004	0	0	0	0	0	0	0.0030	0.0003558	55	154602	rs543390398	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0034	7.884e-05	7.874e-05	5.143e-05	0.0001	0.0025	4.496e-05	3.512e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.013	0.53900	D	0.03	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.21	0.89262	M	-6.03	0.99497	D	-3.49	0.69835	D	0.948	0.97317	1.059	0.98314	D	0.983	0.99479	D	10	0.1442214	0.27372	T	0.429341	0.93950	D	0.940	0.98708	0.815	0.92992	0.889321258414	0.88823	0.8499869299111908	0.84960	0.845700684657	0.68286	0.487870275974	0.37144	T	0.730436	0.92620	D	0.10707	0.65047	D	0.377658	0.91348	D	0.291278268198949	0.24643	T	0.961904	0.94749	D	0.71570116	0.78923	0.4374436	0.67163	0.71570116	0.78924	0.4374436	0.67164	-9.116	0.68440	D	.	.	0.637	0.76081	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.941368	0.81548	27.6	0.99885034796045535	0.96049	0.98801	0.87029	D	AEFDGBI	0.953638	0.97010	D	0.890032966738112	0.91263	10.79574	0.864754322147354	0.93848	12.32286	0.999999999999916	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.95	5.95	0.96415	8.014000	0.88267	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.402	0.83485	598	0.68232	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.;.;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2700.33	45	chr10	33213442	.	T	C	2700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.116;DP=893;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.486;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	34317230	34317230	T	C	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon17:c.A2726G:p.K909R,PARD3:NM_001184790:exon18:c.A2681G:p.K894R,PARD3:NM_001184786:exon19:c.A2903G:p.K968R,PARD3:NM_001184788:exon19:c.A2813G:p.K938R,PARD3:NM_001184789:exon19:c.A2813G:p.K938R,PARD3:NM_001184794:exon19:c.A2813G:p.K938R,PARD3:NM_001184785:exon20:c.A2942G:p.K981R,PARD3:NM_001184787:exon20:c.A2951G:p.K984R,PARD3:NM_001184792:exon20:c.A2942G:p.K981R,PARD3:NM_001184793:exon20:c.A2849G:p.K950R,PARD3:NM_019619:exon20:c.A2951G:p.K984R	.	429	1084	9	0	0	9	0.00413413	.	.	.	3206031	PARD3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00537531025545	.	0.000599042	0.0008	0	0	0	0	0.0002	0	0.0047	0.0006274	97	154602	rs200130312	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	2.987e-05	0.0001	3.826e-05	0	0	0.0024	0.0002	0.0005	0.0052	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0006	0	0	0	0	0.0002	0	0.0044	0.439	0.15613	T	0.229	0.41405	T	0.001	0.14184	B	0.004	0.15521	B	0.014598	0.28488	N	0.404642	0.557243	0.32183	D	0.315	0.10303	N	1.45	0.32482	T	-1.24	0.33197	N	0.146	0.14763	-1.0451	0.15796	T	0.055	0.23375	T	10	0.0043361783	0.00088	T	0.005375	0.13771	T	0.031	0.07369	0.325	0.30711	0.306606720791	0.30265	0.0394300521374119	0.03889	0.0698374760876	0.07817	0.320736885071	0.13533	T	0.215996	0.57804	T	-0.622963	0.00105	T	-0.666666	0.07823	T	0.0116788487424321	0.00179	T	0.857714	0.56927	D	0.047509383	0.08131	0.049264885	0.07493	0.040747296	0.05873	0.04566475	0.06193	-3.607	0.29435	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.168555	0.27635	17.53	0.98762351355122246	0.45831	0.90862	0.52401	D	AEFBI	0.402359	0.47648	N	-0.391060253620372	0.25787	1.402419	-0.280967106806349	0.28725	1.603851	0.883927345974525	0.25684	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	0.801	0.17822	2.202000	0.42377	0.863000	0.22246	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3325:0.0:0.6675	8.232	0.30765	946	0.12043	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003627	0.000000	0.000000	0.000000	0.000000	0.017241	0.012195	0.007576	0.02632	485.33	33	chr10	34317230	.	T	C	485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=669;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.248;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	18	0	1	0
chr10	34470176	34470176	T	G	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184785:exon4:c.A491C:p.E164A,PARD3:NM_001184786:exon4:c.A491C:p.E164A,PARD3:NM_001184787:exon4:c.A491C:p.E164A,PARD3:NM_001184788:exon4:c.A491C:p.E164A,PARD3:NM_001184789:exon4:c.A491C:p.E164A,PARD3:NM_001184790:exon4:c.A491C:p.E164A,PARD3:NM_001184791:exon4:c.A491C:p.E164A,PARD3:NM_001184792:exon4:c.A491C:p.E164A,PARD3:NM_001184793:exon4:c.A491C:p.E164A,PARD3:NM_001184794:exon4:c.A491C:p.E164A,PARD3:NM_019619:exon4:c.A491C:p.E164A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0302866852499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.44694	T	0.189	0.28575	T	0.992	0.73220	D	0.984	0.76113	D	0.000027	0.55875	D	0.184671	1	0.81001	D	2.215	0.62545	M	2.61	0.42122	T	-2.86	0.60188	D	0.726	0.84817	-0.9305	0.44066	T	0.185	0.53481	T	10	0.5225124	0.62723	D	0.030287	0.52630	D	0.158	0.41098	0.187	0.09646	0.631326422863	0.62830	0.3927132581708436	0.39186	1.20826627468	0.80759	0.580970466137	0.50222	T	0.249732	0.61973	T	0.130317	0.67391	D	-0.050585	0.66982	D	0.986534774303436	0.77228	D	0.956938	0.83632	D	0.17524262	0.38373	0.16177857	0.37612	0.17524262	0.38372	0.16177857	0.37611	-6.17	0.51607	T	.	.	0.172	0.46436	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.021927	0.59410	24.1	0.99392883324335746	0.62428	0.97414	0.74598	D	AEFBI	0.663791	0.63318	D	0.402713287238605	0.61572	4.360083	0.470943435794461	0.66072	4.904789	0.999999999995731	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.179000	0.77209	7.813000	0.69496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.0:1.0	16.227	0.82122	888	0.27761	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	910.33	33	chr10	34470176	.	T	G	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=705;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.96;SOR=0.85	GT:AD:DP:GQ:PL	0/1:40,39:79:99:924,0,1033	18	0	1	0
chr10	35569106	35569106	G	T	exonic	CCNY	.	nonsynonymous SNV	CCNY:NM_001282854:exon8:c.G563T:p.R188M,CCNY:NM_001282852:exon9:c.G887T:p.R296M,CCNY:NM_145012:exon10:c.G962T:p.R321M,CCNY:NM_001282853:exon11:c.G800T:p.R267M,CCNY:NM_181698:exon12:c.G800T:p.R267M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00882485530928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.375	0.16231	T	0.0	0.02946	B	0.001	0.08700	B	0.000000	0.84330	D	0.042650	0.98485	0.41244	D	0.36	0.11994	N	1.56	0.29602	T	1.39	0.00846	N	0.322	0.36254	-0.9867	0.33420	T	0.019	0.07753	T	10	0.12148544	0.23031	T	0.008825	0.23269	T	0.161	0.41658	0.246	0.18139	0.280987212366	0.27714	0.5361074457972772	0.53535	1.13560500153	0.78775	0.547749519348	0.45540	T	0.014821	0.12548	T	-0.137447	0.30297	T	-0.435209	0.29345	T	0.756519436836243	0.43652	D	0.693131	0.30283	T	0.10552424	0.24949	0.089434214	0.20914	0.10552424	0.24949	0.089434214	0.20914	-6.746	0.54703	T	.	.	0.299	0.52897	B	.;.;.;.	.;.;.;.	2.895400	0.38363	20.7	0.23060944698648969	0.00957	0.91600	0.53868	D	AEFBI	0.643116	0.61984	D	-0.546929793815462	0.20580	1.085937	-0.278871402341639	0.28795	1.608287	0.999994684887892	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.133000	0.64605	9.882000	0.82206	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.2101:0.0:0.7899:0.0	7.057	0.24285	738	0.53389	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	34	chr10	35569106	.	G	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=808;ExcessHet=0;FS=3.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.2;SOR=0.886	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1221	18	0	1	0
chr10	35608376	35608376	C	T	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.C863T:p.T288M	.	404	1113	5	0	0	5	0.00224115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0056	0.00239617	0.0078	0.0015	0.0031	0	0.0435	0.0114	0	0.0072	0.0033311	515	154602	rs141883026	0.0073	0.0071	0.0074	0.0071	0.0082	0.0071	0.0071	0.0081	0.0080	0.0013	0.0023	0.0005	2.772e-05	0.0064	0.0016	0.0082	0.0065	0.0059	0.0054	0.0054	0.0053	0.0055	0.0077	0.0051	0.0050	0.0071	0.0069	0.0016	0.0822	0.0026	0.0006	0.0004	0.0089	0.0034	0.0077	0.0033	0.0025	0.213	0.19430	T	0.25	0.23707	T	0.079	0.24468	B	0.002	0.06944	B	0.000000	0.00162	N	7.388010	1	0.08975	N	0.295	0.10161	N	-4.44	0.97515	D	0.3	0.04091	N	0.084	0.06059	0.095	0.84079	D	0.602	0.85847	D	10	0.0027668178	0.00043	T	.	.	.	0.173	0.43840	.	.	0.278968121808	0.27521	0.12049763946566953	0.11976	0.287887621189	0.31188	0.396187543869	0.24538	T	0.020956	0.16408	T	-0.408207	0.02043	T	-0.354432	0.38697	T	0.00298685721869819	0.00031	T	0.425957	0.11436	T	0.03444091	0.03864	0.044579335	0.05806	0.03444091	0.03864	0.044579335	0.05805	-4.547	0.31498	T	.	.	0.088	0.11845	B	.	.	-0.463611	0.01986	0.174	0.82521898844299524	0.14236	0.00514	0.02403	N	AEFDBI	0.022729	0.01174	N	-1.54756329324156	0.01549	0.06765474	-1.57312870663511	0.01821	0.08296265	0.999725276011193	0.42220	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.81	-3.57	0.04316	-0.734000	0.04997	-3.572000	0.02686	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.1525:0.3919	6.492	0.21319	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002601	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015385	0.02632	842.33	34	chr10	35608376	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.444;SOR=0.653	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,113,1309	18	0	1	0
chr10	35640371	35640371	-	GCGCCCCCA	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1058_1059insTGGGGGCGC:p.A356_A357insGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423225902	1.187e-06	3.423e-06	2.217e-06	0	1.312e-06	0	0	.	.	0	0	0	0	0	0	1.312e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.8	33	chr10	35640371	.	C	CGCGCCCCCA	487.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.674;DP=346;ExcessHet=0.119;FS=2.969;InbreedingCoeff=-0.0398;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=0;SOR=0.18	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	17	0	2	0
chr10	37158517	37158517	A	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon15:c.A1663C:p.T555P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000872549996802	.	0.000599042	0.0003	0.0002	0.0005	0	0.0003	0.0003	0	0.0003	0.0002781	43	154602	rs16937417	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0009	8.966e-05	0.0004	0.0003	2.524e-05	0.0006	0.0021	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0.0005	0	0.0003	0.0009	0	0.002	0.78490	D	0.024	0.92824	D	0.932	0.51990	P	0.84	0.60170	P	.	.	.	.	1	0.08975	P	0.345	0.11182	N	3.49	0.05071	T	-1.31	0.32791	N	0.071	0.06720	-1.0409	0.17041	T	0.023	0.09650	T	8	0.020966232	0.00493	T	8.73E-4	0.00777	T	0.081	0.23632	.	.	0.268211541103	0.26431	0.002444771748271109	0.00226	0.0116011215857	0.01090	0.653544783592	0.60490	T	0.005515	0.15785	T	-0.561899	0.00247	T	-0.704357	0.05590	T	0.0353854244334517	0.02873	T	0.250275	0.05441	T	0.06202799	0.12910	0.06292288	0.12385	0.06202799	0.12909	0.06292288	0.12385	0.348	0.00247	T	.	.	0.118	0.24123	B	.;.;.;.	.;.;.;.	1.075143	0.14579	11.14	0.69432028000272461	0.08970	0.00536	0.02476	N	AEFI	0.058414	0.10958	N	-0.985435650724091	0.08914	0.4198208	-1.27998923750798	0.04701	0.2223762	1.12769346228975E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.59	-3.17	0.04882	-0.538000	0.06209	-4.478000	0.02136	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.271:0.2262:0.5027:0.0	4.203	0.09934	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1131.33	33	chr10	37158517	.	A	C	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.851;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.09;MQRankSum=-4.916;QD=21.35;ReadPosRankSum=-0.089;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr10	37158523	37158523	G	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon15:c.G1669A:p.G557R	.	732	789	1	0	0	1	0.000633312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00140731664079	0.0003	0.00199681	0.0004	0.0008	0.0006	0	0.0003	0.0004	0	0.0004	0.0005763	15	26028	rs113525905	0.0003	0.0003	0.0003	0.0003	0.0024	0.0003	0.0003	0.0015	0.0014	0.0019	0.0006	0.0004	7.571e-05	0.0006	0.0024	0.0002	0.0008	0.0005	0.0005	0.0005	0.0006	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0.0002	0.0005	0	0.0003	0.0009	0	0.013	0.53900	D	0.135	0.57587	T	0.998	0.73220	D	0.777	0.57175	P	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.4	0.05642	T	-1.25	0.31576	N	0.099	0.12484	-1.0005	0.29774	T	0.012	0.04795	T	9	0.010056257	0.00225	T	0.001407	0.02088	T	0.086	0.25016	0.233	0.16155	0.415690173769	0.41181	5.108502944508818E-4	0.00047	0.0113484043938	0.01063	0.646541714668	0.59494	T	0.004732	0.17413	T	-0.617982	0.00113	T	-0.710905	0.05248	T	0.0122985383477414	0.00199	T	0.415458	0.10884	T	0.04485973	0.07242	0.06319149	0.12479	0.04485973	0.07242	0.06319149	0.12479	-3.378	0.14762	T	.	.	0.243	0.47752	B	.;.;.;.	.;.;.;.	1.633973	0.20861	14.94	0.96579987312734206	0.30329	0.01433	0.04820	N	AEFI	0.033906	0.04106	N	-0.770856783142215	0.14074	0.6981461	-1.01223342105809	0.09516	0.4738656	1.17574922096506E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.59	-0.61	0.11023	0.979000	0.29098	-1.341000	0.05672	-0.675000	0.04277	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	0.2085:0.0:0.4852:0.3063	2.108	0.03471	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003071	0.000000	0.004121	0.000000	0.000000	0.000000	0.003906	0.004274	0.02632	1128.33	33	chr10	37158523	.	G	A	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.902;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.2;MQRankSum=-4.999;QD=20.9;ReadPosRankSum=0.113;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr10	37189507	37189507	C	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon25:c.C2294A:p.P765H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00144707358205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs780177457	2.888e-06	6.189e-06	5.757e-06	0	0.0010	6.8e-07	4.6e-07	0.0003	0.0002	0	0	0	0	0	0.0010	0	0	0	0	2.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.065	0.79402	T	0.997	0.70673	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.3	0.06368	T	-1.92	0.44657	N	0.086	0.08646	-1.0119	0.26322	T	0.029	0.12278	T	9	0.11866805	0.22439	T	0.001447	0.02189	T	0.027	0.05988	0.154	0.05752	0.454798141022	0.45104	5.6853715781768E-4	0.00051	0.0647928516065	0.07235	0.731734871864	0.71759	T	0.003957	0.14006	T	-0.312038	0.07571	T	-0.685998	0.06623	T	0.209221379179701	0.20912	T	0.361264	0.08331	T	0.03650985	0.04506	0.05164646	0.08354	0.03650985	0.04506	0.05164646	0.08353	-10.002	0.73925	D	.	.	0.182	0.50054	B	.;.;.;.	.;.;.;.	1.592681	0.20368	14.72	0.68281592003848435	0.08610	0.00361	0.01848	N	AEFI	0.024448	0.01516	N	-0.465869358391455	0.23206	1.244509	-0.753685451019199	0.15632	0.8230897	1.59072423187973E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.746	0.746	0.17514	-0.167000	0.09928	-0.078000	0.12213	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	4.837	0.12831	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	385.33	33	chr10	37189507	.	C	A	385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=644;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.78;MQRankSum=0.295;QD=10.41;ReadPosRankSum=-0.547;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,922:.	18	0	1	0
chr10	37201280	37201280	G	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon31:c.G2656A:p.A886T	.	464	1057	1	0	0	1	0.000472813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000761240435328	.	.	5.817e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs772247695	2.495e-05	2.805e-05	2.069e-05	2.925e-05	0.0004	1.826e-05	1.621e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.36e-05	0.0004	3.95e-05	3.942e-05	1.287e-05	6.739e-05	0.0012	1.718e-05	1.131e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.256	0.16793	T	1.0	0.44702	T	0.98	0.59353	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	0.205	0.09354	N	3.32	0.06214	T	-0.34	0.12661	N	0.075	0.14054	-0.9915	0.32218	T	0.020	0.08453	T	9	0.047648758	0.04111	T	7.61E-4	0.00549	T	0.151	0.39764	0.051	0.00104	0.283761946502	0.27984	7.12540865200494E-4	0.00065	0.0113215282385	0.01058	0.713493347168	0.69099	T	0.001251	0.05676	T	-0.532572	0.00371	T	-0.698232	0.05923	T	0.112278394401073	0.13659	T	0.510949	0.16331	T	0.017714208	0.00296	0.05083028	0.08056	0.017714208	0.00296	0.05083028	0.08056	-5.974	0.46062	T	.	.	0.112	0.22318	B	.;.;.;.	.;.;.;.	0.469406	0.08392	5.144	0.87816430024178438	0.17503	0.00577	0.02607	N	AEFI	0.026171	0.01919	N	-0.802826029595527	0.13237	0.6507267	-1.03915168427223	0.08934	0.4417931	9.06437838618504E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.436	0.15762	-0.187000	0.09652	-2.348000	0.03868	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2518:0.0:0.7482:0.0	3.751	0.08093	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	701.33	33	chr10	37201280	.	G	A	701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.722;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.35;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	18	0	1	0
chr10	37219162	37219162	A	-	exonic	ANKRD30A	.	frameshift deletion	ANKRD30A:NM_052997:exon34:c.3282delA:p.K1095Nfs*2	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.994e-05	0	8.706e-05	0	0	7.541e-05	0	0	3.88e-05	6	154602	rs760778504	8.635e-05	8.619e-05	8.319e-05	8.954e-05	0.0017	7.367e-05	6.915e-05	0.0009	0.0007	0	2.239e-05	0	0	0	0.0017	9.188e-05	0.0002	3.482e-05	7.937e-05	7.884e-05	9.057e-05	6.766e-05	4.451e-05	4.524e-05	3.534e-05	1.182e-05	6.28e-06	2.414e-05	0.0088	0	0	0	0	0	4.451e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2097.29	149	chr10	37219161	.	TA	T	2097.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=1093;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.832;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1234	18	0	1	0
chr10	37219328	37219328	G	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.G3448C:p.V1150L	.	433	1085	4	0	0	4	0.00183993	.	.	.	2813105	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0079	0.00239617	0.0049	0.0011	0.0024	0	0.0067	0.0075	0.0067	0.0005	0.005084	786	154602	rs141194244	0.0078	0.0078	0.0081	0.0075	0.0092	0.0076	0.0076	0.0091	0.0090	0.0011	0.0044	0.0002	2.524e-05	0.0084	0.0009	0.0092	0.0065	0.0003	0.0056	0.0057	0.0060	0.0053	0.0090	0.0053	0.0052	0.0084	0.0081	0.0016	0.0055	0.0062	0.0003	0	0.0061	0	0.0090	0.0062	0.0004	1.0	0.00964	T	0.606	0.08685	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.175	0.04276	N	2.6	0.13204	T	0.32	0.04947	N	0.06	0.04072	-1.0334	0.19363	T	0.005	0.01797	T	9	0.0032106042	0.00054	T	.	.	.	0.035	0.08770	0.099	0.01433	0.24896430686	0.24499	0.0037765409491487202	0.00353	0.0101513420452	0.00935	0.852703332901	0.90021	D	7.85E-4	0.01280	T	-0.778916	0.00011	T	-0.882241	0.00636	T	0.00158593337672642	0.00016	T	0.0606939	0.00442	T	0.02054487	0.00617	0.050194535	0.07829	0.02054487	0.00616	0.050194535	0.07828	-2.167	0.03883	T	.	.	0.122	0.28174	B	.;.;.;.	.;.;.;.	-1.771295	0.00167	0.002	0.095252430492617654	0.00099	0.01156	0.04174	N	AEFDGHCI	0.048171	0.08193	N	-2.64983901548805	0.00007	0.0003103052	-2.65668300258864	0.00010	0.000441523	0.999999980139621	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.81	-5.61	0.02291	-0.350000	0.07769	-20.000000	0.00162	-5.589000	0.00009	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1614:0.2576:0.3258:0.2552	1.181	0.01733	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1946.33	132	chr10	37219328	.	G	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=1229;ExcessHet=0;FS=4.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.355;SOR=1.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1234	18	0	1	0
chr10	42793891	42793891	A	C	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon9:c.A1129C:p.I377L	.	550	968	4	0	0	4	0.00206186	.	.	.	2367670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00828823382652	0.0002	.	0.0005	0	0.0010	0	0	0.0005	0.0011	0.0005	0.0003558	55	154602	rs199913378	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	0.0001	0.0009	0.0026	0	9.36e-05	0.0031	0.0003	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0010	0.0029	0	0	0	0.0004	0.0014	0.0002	0.543	0.06735	T	0.2	0.27591	T	0.72	0.42342	P	0.345	0.42592	B	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.52	0.73523	M	3.13	0.08014	T	-0.96	0.25551	N	0.447	0.48504	-1.0670	0.10085	T	0.030	0.12760	T	10	0.04001993	0.02537	T	0.008288	0.21954	T	0.185	0.45933	.	.	0.473932634616	0.47021	0.23066799459833928	0.22981	0.196573779005	0.22022	0.668484628201	0.62621	T	0.018726	0.15043	T	-0.362961	0.03965	T	-0.369558	0.36940	T	0.619019210338593	0.37165	D	0.848015	0.52922	T	0.19749665	0.41617	0.16102046	0.37476	0.19749665	0.41616	0.16102046	0.37475	-10.233	0.75294	D	.	.	0.142	0.31203	B	.	.	2.773347	0.36409	20.2	0.98297845438387332	0.40011	0.99480	0.96546	D	AEFBI	0.843484	0.76051	D	0.36161753080237	0.59357	4.114285	0.452523495241008	0.64880	4.753597	0.999931430211922	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	8.737000	0.91261	.	.	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	1.0:0.0:0.0:0.0	15.937	0.79505	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002415	0.000000	0.005479	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2607.83	35	chr10	42793891	.	A	C	2607.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.829;DP=808;ExcessHet=0.119;FS=2.476;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=1.06;QD=13.44;ReadPosRankSum=-0.25;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	17	0	2	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.02632	367.33	34	chr10	42820245	.	G	A	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.884;DP=666;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.184;SOR=0.269	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr10	42823716	42823716	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon21:c.C3388T:p.R1130W	.	549	963	10	0	0	10	0.00516529	.	.	.	737484	not_provided|BMS1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.265	.	.	0.00199681	0.0023	0	0.0014	0	0.0002	0.0008	0.0024	0.0115	0.0017205	266	154602	rs138529489	0.0011	0.0011	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	5.994e-05	0.0009	0.0037	0	0.0004	0.0031	0.0003	0.0013	0.0115	0.0007	0.0007	0.0004	0.0010	0.0135	0.0006	0.0006	0.0109	0.0099	0	0	0.0004	0.0026	0	0.0007	0.0068	0.0003	0.0005	0.0135	0.011	0.55530	D	0.031	0.53788	D	0.01	0.15535	B	0.003	0.08700	B	0.000125	0.49741	N	0.171613	0.999898	0.50595	D	2.84	0.82582	M	0.93	0.44065	T	-5.96	0.89211	D	0.676	0.68342	-0.9300	0.44139	T	0.125	0.42903	T	10	0.013313651	0.00283	T	.	.	.	0.265	0.57870	0.631	0.76699	0.65795513568	0.65509	0.7714390700717881	0.77093	0.100634872147	0.11374	0.641891360283	0.58833	T	0.370767	0.73525	T	0.0447042	0.57659	T	-0.173562	0.57117	T	0.171784562101985	0.18700	T	0.889011	0.61998	D	0.4172859	0.61911	0.29720032	0.55753	0.4172859	0.61911	0.29720032	0.55752	-11.867	0.84197	D	.	.	0.279	0.51201	B	.	.	3.126249	0.42227	21.5	0.99584527023266678	0.73218	0.81072	0.40555	D	AEFBI	0.564205	0.57109	D	-0.229377481797391	0.31934	1.79564	-0.208017541717647	0.31246	1.766585	8.9627386451385E-5	0.04703	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.54	-0.92	0.09942	2.289000	0.43184	.	.	0.544000	0.25403	1.000000	0.71638	0.995000	0.32472	0.887000	0.42601	0.6796:0.2313:0.0:0.0891	8.565	0.32692	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006619	0.000000	0.000000	0.000000	0.000000	0.018182	0.015748	0.012500	0.02632	693.33	33	chr10	42823716	.	C	T	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.34;DP=702;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.64;MQRankSum=-3.775;QD=9.63;ReadPosRankSum=-0.716;SOR=0.854	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	18	0	1	0
chr10	43105111	43105111	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon1:c.T23C:p.V8A,RET:NM_020630:exon4:c.T785C:p.V262A,RET:NM_020975:exon4:c.T785C:p.V262A	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	50284	not_provided|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Aganglionic_megacolon|Renal_hypodysplasia/aplasia_1|not_specified|Pheochromocytoma|Multiple_endocrine_neoplasia,_type_2|RET-related_disorder|Malignant_tumor_of_breast	MedGen:C3661900|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|.|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.748	0.269317144677	0.0002	0.000199681	0.0002	0	9.093e-05	0	0.0002	0.0003	0.0012	0.0003	0.000194	30	154602	rs139790943	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0046	0.0041	0.0001	8.951e-05	7.664e-05	0	3.833e-05	0.0063	0.0002	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	4.816e-05	0.0011	0.0005	0	0	9.413e-05	0.0068	0.0004	0.0005	0.0002	0.002	0.72154	D	0.011	0.64786	D	0.676	0.41315	P	0.568	0.49807	P	0.000678	0.42516	D	0.238698	0.998373	0.44834	D	2.325	0.66631	M	-2.29	0.88298	D	-2.44	0.53420	N	0.4	0.94550	0.269	0.87058	D	0.645	0.87618	D	10	0.23900184	0.41032	T	0.269317	0.89817	D	0.748	0.91328	.	.	0.986075961623	0.98591	0.9449520661963712	0.94477	1.39902537186	0.85153	0.654298603535	0.60596	T	0.747582	0.93057	D	0.147568	0.69041	D	0.296161	0.88021	D	0.110290273663753	0.13453	T	0.812119	0.57175	T	0.6398909	0.74825	0.46798772	0.69138	0.7156541	0.78921	0.51304674	0.71862	-11.708	0.84142	D	0.67289961215672	0.74816	0.700	0.80500	P	.;.;.	.;.;.	5.265842	0.88415	29.6	0.99080146142778192	0.51954	0.85374	0.44500	D	AEFDGBCIJ	0.704574	0.66024	D	0.206366859142037	0.51507	3.331407	0.220349645155146	0.50977	3.284379	0.999999999985687	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.79	3.64	0.40864	5.516000	0.66771	7.817000	0.69620	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1429:0.0:0.0:0.8571	10.713	0.45194	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004550	0.000000	0.006812	0.005848	0.000000	0.008772	0.003067	0.007576	0.02632	2066.33	37	chr10	43105111	.	T	C	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.328;DP=870;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.23;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr10	43481722	43481722	C	T	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.C436T:p.R146C,ZNF487:NM_001355449:exon3:c.C331T:p.R111C,ZNF487:NM_001355450:exon3:c.C331T:p.R111C,ZNF487:NM_001355444:exon4:c.C424T:p.R142C,ZNF487:NM_001355445:exon4:c.C424T:p.R142C,ZNF487:NM_001355448:exon4:c.C532T:p.R178C,ZNF487:NM_001355446:exon5:c.C424T:p.R142C	.	433	1082	5	2	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00358775226534	.	0.000199681	0.0013	0	0.0043	0	0	0	0	0.0028	0.0001294	20	154602	rs531827230	0.0004	0.0003	0.0002	0.0005	0.0024	0.0003	0.0003	0.0021	0.0019	0	8.667e-05	0	0.0001	0	0.0015	0.0001	0.0004	0.0024	0.0002	0.0002	0.0001	0.0003	0.0023	0.0001	0.0001	0.0013	0.0010	2.409e-05	0	6.545e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0023	0.005	0.63226	D	0.02	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.990198	0.24202	N	.	.	.	2.2	0.18570	T	-1.42	0.35991	N	0.13	0.12484	-1.0307	0.20227	T	0.029	0.12409	T	7	0.007925361	0.00180	T	0.003588	0.08216	T	0.118	0.32913	.	.	0.0762999501168	0.06990	.	.	1.35134283137	0.84084	0.265641987324	0.05581	T	.	.	.	-0.369538	0.03617	T	-0.466871	0.25853	T	0.0587710347603347	0.06973	T	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-3.982	0.23533	T	.	.	.	.	.	.;.	.;.	1.713987	0.21823	15.36	0.89416181618507928	0.18778	0.00323	0.01694	N	AEFGBCI	0.048301	0.08228	N	-0.762117365444563	0.14307	0.7115589	-0.901211671129335	0.12065	0.6184949	0.989100072397463	0.31724	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	1.71	1.71	0.23429	1.287000	0.32889	-12.359000	0.00531	0.434000	0.20985	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	9.418	0.37693	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3245.83	33	chr10	43481722	.	C	T	3245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=867;ExcessHet=0.119;FS=1.046;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.48;SOR=0.787	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	17	0	2	0
chr10	45815611	45815611	C	T	exonic	FAM25E	.	nonsynonymous SNV	FAM25E:NM_001351234:exon2:c.G64A:p.E22K	.	555	963	4	0	0	4	0.00207254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37382561456	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385027343	0.0004	0.0004	0.0003	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	6.62e-05	0	0	2.826e-05	0	0.0010	8.298e-05	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	2.414e-05	0	0	0	0.0002	0	0	4.41e-05	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	963.33	33	chr10	45815611	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=703;ExcessHet=0;FS=5.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.76;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.121;SOR=1.397	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1368	18	0	1	0
chr10	45826564	45826564	T	A	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.A1343T:p.Q448L,AGAP4:NM_001276343:exon8:c.A1412T:p.Q471L,AGAP4:NM_001291379:exon10:c.A1088T:p.Q363L	.	.	.	.	.	.	.	.	.	.	.	3957131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0020255820818	0.0007	0.00119808	0.0005	0.0058	0.0003	0	0	7.067e-05	0	0	0.0002305	6	26028	rs148544608	0.0001	0.0001	0.0001	0.0001	0.0028	0.0001	9.938e-05	0.0023	0.0022	0.0028	0.0003	0	0	0	0.0014	3.291e-05	0.0004	0	0.0007	0.0007	0.0007	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0005	0	0	0	0	0.0001	0.0030	0	0.065	0.36310	T	0.12	0.37449	T	0.802	0.45105	P	0.696	0.54017	P	0.004229	0.33968	N	0.229143	0.930249	0.27076	N	0.08	0.08321	N	1.16	0.38073	T	-3.42	0.67241	D	0.208	0.27197	-1.0667	0.10154	T	0.056	0.23565	T	9	0.0077528358	0.00176	T	0.002026	0.03668	T	0.088	0.25558	.	.	0.117506650769	0.11410	0.0535609099602119	0.05298	.	.	0.61513364315	0.55041	T	0.077375	0.35640	T	-0.473791	0.00805	T	-0.456081	0.27028	T	0.0876175838598307	0.10933	T	0.823718	0.48487	T	0.25993088	0.49048	0.12762627	0.30720	0.25993088	0.49048	0.12762627	0.30719	-6.4	0.49509	T	.	.	0.176	0.40015	B	.;.;.;.	.;.;.;.	1.161092	0.15498	11.90	0.71467153654052606	0.09639	0.31228	0.24284	N	AEFI	0.250350	0.37041	N	-0.678184703511392	0.16644	0.8498423	-0.833570740541955	0.13683	0.7111495	1.85292889225204E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	1.960000	0.40046	-0.209000	0.10871	0.115000	0.17631	0.867000	0.30739	0.000000	0.08366	0.215000	0.22324	0.0:0.4896:0.0:0.5104	2.651	0.04694	751	0.51694	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2079.43	47	chr10	45826564	.	T	A	2079.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=1445;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=39.87;MQRankSum=-2.102;QD=9.63;ReadPosRankSum=1.52;SOR=0.597	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	18	0	1	0
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	458.33	29	chr10	45828081	.	C	G	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.493;DP=609;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.99;MQRankSum=-0.275;QD=9.35;ReadPosRankSum=-1.082;SOR=0.4	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,791	18	0	1	0
chr10	45847150	45847150	G	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_001276343:exon1:c.C198G:p.H66Q,AGAP4:NM_133446:exon1:c.C198G:p.H66Q	.	399	1121	2	0	0	2	0.000891266	.	.	.	3256888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.0181275424575	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201098582	0.0003	0.0005	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	5.981e-05	0.0003	0.0006	0.0007	2.43e-05	0.0004	0.0002	0.0003	0.0008	0.0006	0.0007	0.0006	0.0006	0.0024	0.0005	0.0005	0.0014	0.0011	0.0003	0	0.0006	0.0009	0.0024	9.515e-05	0	0.0006	0	0.0023	0.282	0.15406	T	0.133	0.34596	T	0.001	0.07471	B	0.0	0.01387	B	0.000612	0.42945	D	0.150823	0.999922	0.19486	N	1.925	0.51371	L	-2.44	0.88767	D	-0.87	0.23590	N	0.212	0.32481	-0.6543	0.62525	T	0.482	0.80205	T	10	0.07715994	0.12144	T	0.018128	0.40089	T	0.295	0.61502	0.4	0.42917	0.239901079897	0.23603	0.035652079000678995	0.03512	.	.	0.893662571907	0.95708	D	0.111871	0.42770	T	0.00767142	0.52708	T	-0.226757	0.52084	T	0.0266194587714375	0.01491	T	0.430757	0.11694	T	0.088900715	0.20753	0.058142744	0.10692	0.088900715	0.20753	0.058142744	0.10691	-2.905	0.09193	T	.	.	0.155	0.40570	B	.;.;.;.;.	.;.;.;.;.	3.069281	0.41247	21.3	0.51430986494781816	0.04561	0.58374	0.30625	D	AEFI	0.194315	0.32140	N	-0.570495400259629	0.19845	1.041847	-0.563679940213609	0.20443	1.101425	3.00438509087579E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	1.4	0.21393	1.780000	0.38264	2.536000	0.33191	0.331000	0.19555	0.998000	0.41325	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	6.247	0.20038	757	0.50970	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	295.33	39	chr10	45847150	.	G	C	295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.82;DP=742;ExcessHet=0;FS=6.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.91;MQRankSum=-4.676;QD=5.27;ReadPosRankSum=-1.872;SOR=1.911	GT:AD:DP:GQ:PL	0/1:39,17:56:99:309,0,911	18	0	1	0
chr10	46011178	46011178	T	C	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.A743G:p.N248S,NCOA4:NM_001145263:exon8:c.A743G:p.N248S,NCOA4:NM_005437:exon8:c.A743G:p.N248S,NCOA4:NM_001145260:exon9:c.A791G:p.N264S,NCOA4:NM_001145261:exon9:c.A791G:p.N264S	.	9	1508	5	0	0	5	0.00165508	.	.	.	723952	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	0.00214094174632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs117257055	0.0025	0.0026	0.0025	0.0026	0.0148	0.0024	0.0024	0.0138	0.0134	0.0101	0.0113	7.999e-05	0.0148	0.0004	0.0020	0.0013	0.0048	0.0064	0.0051	0.0051	0.0052	0.0050	0.0210	0.0048	0.0047	0.0178	0.0166	0.0102	0	0.0069	0	0.0210	0.0002	0	0.0012	0.0033	0.0083	.	.	.	0.729	0.05506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	.	.	.	0.025	0.00717	.	.	.	.	.	.	.	0.0031405091	0.00052	T	.	.	.	.	.	.	.	.	.	0.07201057075622232	0.07138	.	.	.	.	.	0.030708	0.21706	T	.	.	.	.	.	.	.	.	.	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-2.326	0.04935	T	.	.	0.045	0.00050	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.513265	0.01825	0.144	.	.	.	.	.	.	0.098707	0.19884	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.113000	0.10745	-1.263000	0.05873	-0.854000	0.02687	0.285000	0.25187	0.000000	0.08366	0.930000	0.46718	.	.	.	545	0.72614	Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2456.33	221	chr10	46011178	.	T	C	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.075;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.573;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	18	0	1	0
chr10	46329920	46329920	C	A	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon17:c.C1732A:p.Q578K,ANTXRL:NM_001354208:exon19:c.C838A:p.Q280K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.227e-07	6.84e-07	0	1.465e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.05805	T	.	.	.	.	.	.	.	.	.	.	0.987805	0.40652	D	1.355	0.33814	L	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06710389	0.09300	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.1350953353567757	0.13433	.	.	.	.	.	0.001092	0.00611	T	-0.318661	0.07007	T	-0.695511	0.06074	T	.	.	.	0.339966	0.07337	T	0.049465477	0.08786	0.06439283	0.12899	0.049465477	0.08786	0.06439283	0.12898	-4.906	0.35802	T	.	.	0.087	0.11317	B	.	.	0.121548	0.05188	1.703	0.76162119038858755	0.11358	0.00456	0.02204	N	AEFDGBI	0.046102	0.07616	N	.	.	.	.	.	.	0.99881393713354	0.37733	0.487112	0.14033	0	0.59043	0.45803	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	2.27	-2.46	0.06089	-0.871000	0.04331	-1.236000	0.05946	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4087:0.3103:0.0:0.281	2.387	0.04103	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	7052.83	130	chr10	46329920	.	C	A	7052.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=2170;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.289;SOR=0.725	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	17	0	2	0
chr10	46550328	46550328	G	A	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C409T:p.R137W,GPRIN2:NM_001385276:exon3:c.C409T:p.R137W,GPRIN2:NM_001385282:exon3:c.C409T:p.R137W,GPRIN2:NM_014696:exon3:c.C409T:p.R137W,GPRIN2:NM_001385277:exon4:c.C409T:p.R137W,GPRIN2:NM_001385278:exon4:c.C409T:p.R137W,GPRIN2:NM_001385279:exon4:c.C409T:p.R137W,GPRIN2:NM_001385280:exon4:c.C409T:p.R137W,GPRIN2:NM_001385281:exon4:c.C409T:p.R137W,GPRIN2:NM_001385283:exon4:c.C409T:p.R137W,GPRIN2:NM_001385287:exon4:c.C481T:p.R161W,GPRIN2:NM_001385289:exon4:c.C481T:p.R161W,GPRIN2:NM_001385300:exon4:c.C481T:p.R161W,GPRIN2:NM_001385291:exon5:c.C481T:p.R161W,GPRIN2:NM_001385293:exon5:c.C481T:p.R161W,GPRIN2:NM_001385294:exon5:c.C481T:p.R161W,GPRIN2:NM_001385295:exon5:c.C481T:p.R161W,GPRIN2:NM_001385296:exon5:c.C481T:p.R161W,GPRIN2:NM_001385301:exon5:c.C481T:p.R161W,GPRIN2:NM_001385297:exon6:c.C481T:p.R161W,GPRIN2:NM_001385298:exon6:c.C481T:p.R161W,GPRIN2:NM_001385299:exon6:c.C481T:p.R161W	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140859626	0.0019	0.0025	0.0018	0.0020	0.0086	0.0018	0.0018	0.0066	0.0060	0.0003	0.0014	0.0100	0	3.814e-05	0.0086	0.0017	0.0028	0.0033	0.0014	0.0020	0.0016	0.0013	0.0025	0.0013	0.0012	0.0016	0.0015	0.0003	0.0034	0.0013	0.0104	0	0	0.0103	0.0019	0.0028	0.0025	0.073	0.34800	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8	0.03781	T	-2.59	0.55821	D	0.166	0.17553	.	.	.	.	.	.	.	0.016067445	0.00338	T	.	.	.	.	.	.	.	.	.	0.18825813848168782	0.18743	.	.	.	.	.	0.028429	0.20594	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-4.077	0.24950	T	.	.	0.093	0.14015	B	.;.	.;.	2.289579	0.29282	18.07	.	.	.	.	.	.	0.085239	0.17279	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	3.199000	0.36741	0.676000	0.76740	0.000000	0.06391	0.883000	0.27730	0.895000	0.43227	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	487.33	138	chr10	46550328	.	G	A	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=2306;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.32;ReadPosRankSum=-0.808;SOR=0.578	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	18	0	1	0
chr10	46550408	46550408	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385276:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385282:exon3:c.G329A:p.R110Q,GPRIN2:NM_014696:exon3:c.G329A:p.R110Q,GPRIN2:NM_001385277:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385278:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385279:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385280:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385281:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385283:exon4:c.G329A:p.R110Q,GPRIN2:NM_001385287:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385289:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385300:exon4:c.G401A:p.R134Q,GPRIN2:NM_001385291:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385293:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385294:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385295:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385296:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385301:exon5:c.G401A:p.R134Q,GPRIN2:NM_001385297:exon6:c.G401A:p.R134Q,GPRIN2:NM_001385298:exon6:c.G401A:p.R134Q,GPRIN2:NM_001385299:exon6:c.G401A:p.R134Q	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00412282548505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140015219	0.0051	0.0078	0.0052	0.0051	0.0104	0.0051	0.0050	0.0082	0.0075	0.0009	0.0019	0.0002	2.52e-05	0.0088	0.0104	0.0058	0.0052	0.0013	0.0046	0.0060	0.0047	0.0045	0.0066	0.0043	0.0042	0.0061	0.0059	0.0013	0.0011	0.0049	0.0003	0.0002	0.0101	0.0034	0.0066	0.0047	0.0010	0.244	0.17468	T	0.561	0.09083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-0.04	0.07590	N	0.14	0.13911	.	.	.	.	.	.	.	0.009417057	0.00213	T	.	.	.	.	.	.	.	.	.	0.17394575088259248	0.17314	.	.	.	.	.	0.002431	0.01826	T	.	.	.	.	.	.	.	.	.	0.60234	0.22547	T	.	.	.	.	.	.	.	.	-3.686	0.19112	T	.	.	0.079	0.07177	B	.;.	.;.	0.909202	0.12836	9.349	.	.	.	.	.	.	0.056669	0.10495	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.083000	0.11250	-5.714000	0.01621	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	875.33	138	chr10	46550408	.	C	T	875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=2271;ExcessHet=0;FS=4.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.59;SOR=0.374	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	18	0	1	0
chr10	46550577	46550577	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G160A:p.E54K,GPRIN2:NM_001385276:exon3:c.G160A:p.E54K,GPRIN2:NM_001385282:exon3:c.G160A:p.E54K,GPRIN2:NM_014696:exon3:c.G160A:p.E54K,GPRIN2:NM_001385277:exon4:c.G160A:p.E54K,GPRIN2:NM_001385278:exon4:c.G160A:p.E54K,GPRIN2:NM_001385279:exon4:c.G160A:p.E54K,GPRIN2:NM_001385280:exon4:c.G160A:p.E54K,GPRIN2:NM_001385281:exon4:c.G160A:p.E54K,GPRIN2:NM_001385283:exon4:c.G160A:p.E54K,GPRIN2:NM_001385287:exon4:c.G232A:p.E78K,GPRIN2:NM_001385289:exon4:c.G232A:p.E78K,GPRIN2:NM_001385300:exon4:c.G232A:p.E78K,GPRIN2:NM_001385291:exon5:c.G232A:p.E78K,GPRIN2:NM_001385293:exon5:c.G232A:p.E78K,GPRIN2:NM_001385294:exon5:c.G232A:p.E78K,GPRIN2:NM_001385295:exon5:c.G232A:p.E78K,GPRIN2:NM_001385296:exon5:c.G232A:p.E78K,GPRIN2:NM_001385301:exon5:c.G232A:p.E78K,GPRIN2:NM_001385297:exon6:c.G232A:p.E78K,GPRIN2:NM_001385298:exon6:c.G232A:p.E78K,GPRIN2:NM_001385299:exon6:c.G232A:p.E78K	.	396	1120	6	0	0	6	0.00267142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201812106	0.0005	0.0008	0.0005	0.0005	0.0008	0.0005	0.0005	0.0007	0.0006	0.0002	0.0001	0	0	7.79e-05	0.0005	0.0006	0.0005	0.0008	0.0003	0.0005	0.0003	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	9.614e-05	0	6.53e-05	0	0	0	0	0.0006	0	0.0004	0.0	0.91255	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-0.24	0.10833	N	0.316	0.35832	.	.	.	.	.	.	.	0.10135731	0.18515	T	.	.	.	.	.	.	.	.	.	0.5921985630035705	0.59149	.	.	.	.	.	0.006419	0.05852	T	.	.	.	.	.	.	.	.	.	0.579442	0.20917	T	.	.	.	.	.	.	.	.	-3.866	0.21794	T	.	.	0.082	0.08899	B	.;.	.;.	1.782418	0.22660	15.71	.	.	.	.	.	.	0.092904	0.18803	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	-0.334000	0.09867	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	551.33	98	chr10	46550577	.	C	T	551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=1971;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=-1.404;SOR=0.588	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	18	0	1	0
chr10	46550639	46550639	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385276:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385282:exon3:c.G98A:p.R33Q,GPRIN2:NM_014696:exon3:c.G98A:p.R33Q,GPRIN2:NM_001385277:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385278:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385279:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385280:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385281:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385283:exon4:c.G98A:p.R33Q,GPRIN2:NM_001385287:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385289:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385300:exon4:c.G170A:p.R57Q,GPRIN2:NM_001385291:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385293:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385294:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385295:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385296:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385301:exon5:c.G170A:p.R57Q,GPRIN2:NM_001385297:exon6:c.G170A:p.R57Q,GPRIN2:NM_001385298:exon6:c.G170A:p.R57Q,GPRIN2:NM_001385299:exon6:c.G170A:p.R57Q	.	390	1124	8	0	0	8	0.0035461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00233379715657	.	.	.	.	.	.	.	.	.	.	.	.	.	rs151134434	0.0003	0.0006	0.0004	0.0003	0.0142	0.0003	0.0003	0.0117	0.0107	0.0004	0.0007	0.0018	2.565e-05	1.953e-05	0.0142	0.0002	0.0009	0.0002	0.0004	0.0006	0.0005	0.0004	0.0012	0.0004	0.0003	0.0008	0.0007	0.0004	0	0.0012	0.0026	0.0002	0	0	0.0003	0.0009	0.0002	0.276	0.15717	T	0.377	0.16134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.91	0.03489	T	0.23	0.04613	N	0.068	0.04072	.	.	.	.	.	.	.	0.022905022	0.00584	T	.	.	.	.	.	.	.	.	.	0.11289606975502679	0.11217	.	.	.	.	.	5.61E-4	0.00225	T	.	.	.	.	.	.	.	.	.	0.478252	0.14398	T	.	.	.	.	.	.	.	.	-3.786	0.20595	T	.	.	0.073	0.04723	B	.;.	.;.	-0.643022	0.01458	0.089	.	.	.	.	.	.	0.034765	0.04364	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.129000	0.01400	-9.592000	0.00801	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.666000	0.33137	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	476.33	67	chr10	46550639	.	C	T	476.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1185;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=-0.785;SOR=0.944	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr10	47324926	47324926	G	T	exonic	GDF2	.	nonsynonymous SNV	GDF2:NM_016204:exon2:c.G432T:p.Q144H	Telangiectasia, hereditary hemorrhagic, type 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.524e-06	0	1.513e-05	0.0001	4.04e-06	2.95e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	0	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.19	0.65931	T	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	0.26384282	0.43866	T	.	.	.	.	.	.	.	.	.	0.8242071678069129	0.82378	.	.	.	.	.	0.336919	0.70637	T	.	.	.	.	.	.	.	.	.	0.717928	0.33070	T	.	.	.	.	.	.	.	.	-4.318	0.28428	T	0.11634660952931244	0.10509	0.134	0.29032	B	.	.	3.126418	0.42227	21.5	.	.	.	.	.	.	0.437074	0.49703	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.839000	0.38861	3.643000	0.39353	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	.	.	.	976	0.04745	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2177.33	34	chr10	47324926	.	G	T	2177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.308;DP=917;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.059;SOR=0.896	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr10	47350217	47350217	C	A	exonic	RBP3	.	nonsynonymous SNV	RBP3:NM_002900:exon1:c.C1733A:p.T578K	.	0	1517	5	0	0	5	0.00164528	.	.	.	836886	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.0129395884685	.	.	1.708e-05	0	0	0	0	1.567e-05	0	6.097e-05	1.94e-05	3	154602	rs782234227	0.0001	0.0001	8.472e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	2.987e-05	0.0008	0	0	0	0.0003	2.338e-05	8.284e-05	0.0014	9.196e-05	9.193e-05	5.138e-05	0.0001	0.0010	5.526e-05	4.363e-05	0.0004	0.0003	9.646e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0010	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.06	0.63568	T	.	.	.	0.625	0.63968	.	.	.	.	.	.	.	0.60953295	0.67365	D	.	.	.	.	.	.	.	.	.	0.9338702393430578	0.93366	.	.	.	.	.	0.131595	0.46118	T	.	.	.	.	.	.	.	.	.	0.852415	0.53747	D	.	.	.	.	.	.	.	.	-4.34	0.28734	T	0.3595893989403687	0.45614	0.257	0.49167	B	.	.	2.538149	0.32831	19.16	.	.	.	.	.	.	0.654190	0.62696	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173000	0.77170	1.822000	0.29048	0.524000	0.24156	0.972000	0.34453	0.390000	0.24659	0.412000	0.27050	.	.	.	976	0.04745	Tail specific protease|Tail specific protease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2310.33	45	chr10	47350217	.	C	A	2310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=868;ExcessHet=0;FS=5.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.381;SOR=1.08	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr10	47357335	47357335	G	A	exonic	RBP3	.	nonsynonymous SNV	RBP3:NM_002900:exon4:c.G3622A:p.G1208R	.	.	.	.	.	.	.	.	.	.	.	796406	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.649	0.134629398518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206764279	1.573e-05	1.573e-05	1.634e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.529e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.08	0.63911	T	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	0.787959	0.78410	D	.	.	.	.	.	.	.	.	.	0.9857393777194522	0.98566	.	.	.	.	.	0.22114	0.58463	T	.	.	.	.	.	.	.	.	.	0.890711	0.62461	D	.	.	.	.	.	.	.	.	-5.561	0.42434	T	0.6474395785053676	0.71907	0.698	0.72881	P	.	.	4.188827	0.63122	24.5	.	.	.	.	.	.	0.905474	0.85705	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.000000	0.93104	11.075000	0.85649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	976	0.04745	Tail specific protease|Tail specific protease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	33	chr10	47357335	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=713;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.26;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1175	18	0	1	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	512.33	34	chr10	47474331	.	G	A	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=772;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.64;MQRankSum=0.252;QD=3.66;ReadPosRankSum=-1.206;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1440	18	0	1	0
chr10	47502708	47502708	C	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G1421A:p.R474H	.	415	1085	19	3	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0029	0.0143	0	0	0	0	0	0	0.0005379	14	26028	rs1456306199	0.0011	0.0012	0.0008	0.0014	0.0098	0.0011	0.0011	0.0092	0.0090	0.0001	0.0001	0.0007	5.04e-05	0.0004	0.0090	0.0006	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0100	0.0007	0.0006	0.0077	0.0069	0.0003	0.0022	6.784e-05	0.0003	0.0002	0.0004	0.0174	0.0006	0.0015	0.0100	0.07	0.35349	T	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-3.69	0.70432	D	0.219	0.24510	.	.	.	.	.	.	.	0.011139333	0.00245	T	.	.	.	.	.	.	.	0.341460817117	0.33762	0.04041368958705708	0.03987	.	.	.	.	.	.	.	.	0.0361914	0.56543	T	-0.18579	0.55983	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-6.686	0.51705	T	.	.	0.100	0.16973	B	.	.	1.788199	0.22733	15.74	0.72366461872350973	0.09948	0.03806	0.09138	N	AEFI	.	.	.	.	.	.	.	.	.	1.49817134109118E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	0.984000	0.29163	-0.373000	0.09593	0.148000	0.17689	0.001000	0.13787	0.000000	0.08366	0.063000	0.16184	2.0E-4:0.5106:0.4891:1.0E-4	3.703	0.07919	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2796.33	47	chr10	47502708	.	C	T	2796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1375;ExcessHet=0;FS=2.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.6;MQRankSum=2.6;QD=10.55;ReadPosRankSum=-1.686;SOR=0.882	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	47503387	47503387	T	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A742G:p.M248V	.	434	1065	23	0	0	23	0.0106828	.	.	.	2813128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0021	0	0	0	0.0020	0	0	0.0002689	7	26028	rs199638710	0.0001	0.0009	8.468e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	6.036e-05	6.717e-05	0.0009	0	0	0.0007	7.123e-05	0.0002	0.0007	9.451e-05	0.0002	5.273e-05	0.0001	0.0009	5.673e-05	4.479e-05	0.0003	0.0002	0.0001	0	0	0.0006	0	0	0	4.436e-05	0	0.0009	0.132	0.26519	T	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-1.24	0.31375	N	0.086	0.06322	.	.	.	.	.	.	.	0.00929603	0.00210	T	.	.	.	.	.	.	.	0.354610295913	0.35065	0.02193780874142853	0.02145	.	.	.	.	.	.	.	.	-0.299579	0.08699	T	-0.196136	0.55012	T	.	.	.	0.675032	0.28342	T	.	.	.	.	.	.	.	.	-3.695	0.19244	T	.	.	0.068	0.02797	B	.	.	1.062155	0.14442	11.01	0.6049860810602804	0.06478	0.49735	0.28501	N	AEFI	.	.	.	.	.	.	.	.	.	6.47738046360823E-5	0.04366	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.588178	0.40606	0.109	0.109	0.13884	1.905000	0.39508	0.541000	0.19334	-1.309000	0.01237	1.000000	0.71638	0.136000	0.23046	0.085000	0.17524	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	1206.83	33	chr10	47503387	.	T	C	1206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.265;DP=1319;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.25;MQRankSum=-1.916;QD=2.41;ReadPosRankSum=2.4;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr10	47503517	47503517	T	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A612C:p.K204N	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0.0071	0	0	0.0026	0	0	.	.	.	rs1173461793	7.4e-05	0.0002	5.18e-05	9.643e-05	0.0007	6.258e-05	5.816e-05	0.0005	0.0005	0	4.484e-05	0	0	9.381e-05	0	3.78e-05	3.317e-05	0.0007	6.182e-05	7.253e-05	6.68e-05	5.654e-05	0.0002	3.203e-05	2.401e-05	4.819e-05	3.374e-05	0	0	6.848e-05	0	0	0	0	0.0001	0	0.0002	0.459	0.08762	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.11730	T	-0.79	0.21860	N	0.094	0.07398	.	.	.	.	.	.	.	0.0052042603	0.00113	T	.	.	.	.	.	.	.	0.159798565429	0.15598	0.0035491949411939647	0.00331	.	.	.	.	.	.	.	.	-0.0515163	0.44216	T	-0.311776	0.43467	T	.	.	.	0.607439	0.22904	T	.	.	.	.	.	.	.	.	-3.565	0.17353	T	.	.	0.147	0.32372	B	.	.	0.585376	0.09539	6.315	0.14660683202980249	0.00331	0.01719	0.05448	N	AEFI	.	.	.	.	.	.	.	.	.	3.63124987450781E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0852691	0.19417	0.109	-0.218	0.12495	-0.200000	0.09480	-10.652000	0.00679	0.142000	0.17677	0.998000	0.41325	0.000000	0.08366	0.005000	0.06747	0.0:0.3273:0.3353:0.3374	2.177	0.03628	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	212.33	37	chr10	47503517	.	T	G	212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.262;DP=811;ExcessHet=0;FS=0.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.25;MQRankSum=-1.003;QD=1.62;ReadPosRankSum=-1.98;SOR=0.858	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	288.33	34	chr10	47762985	.	G	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=550;ExcessHet=0;FS=4.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.81;MQRankSum=-1.239;QD=12.01;ReadPosRankSum=0.029;SOR=2.303	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,607	18	0	1	0
chr10	48232155	48232155	G	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon8:c.C1056A:p.N352K,FRMPD2:NM_001018071:exon10:c.C1128A:p.N376K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0535546393681	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766186924	2.326e-05	2.326e-05	1.225e-05	3.438e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.799e-06	3.311e-05	0.0003	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.123	0.27544	T	0.086	0.40909	T	0.006	0.43659	B	0.028	0.41250	B	.	.	.	.	0.999956	0.19072	N	1.825	0.47900	L	-1.04	0.76561	T	-3.44	0.67477	D	0.271	0.34659	-0.7783	0.56398	T	0.295	0.66659	T	9	0.22756046	0.39639	T	0.053555	0.65514	D	0.223	0.52023	0.591	0.71999	0.288352970974	0.28455	0.0975025320112516	0.09681	0.0340853469794	0.03576	0.345347911119	0.17235	T	0.112317	0.80484	T	-0.349385	0.04766	T	-0.429126	0.30035	T	0.184990313763204	0.19544	T	0.50295	0.15803	T	0.18929715	0.40465	0.19192594	0.42679	0.18929715	0.40465	0.19192594	0.42678	-8.471	0.64237	D	.	.	0.196	0.41798	B	.;.;.	.;.;.	1.768190	0.22489	15.64	0.67997628767469875	0.08523	0.43270	0.27061	N	AEFDGBCI	0.090470	0.18332	N	-0.976754882475215	0.09101	0.4294056	-1.0325444995663	0.09074	0.4494704	0.999940780454662	0.47345	0.608966	0.35542	0	0.681609	0.65952	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.44	-0.747	0.10532	1.184000	0.31663	0.351000	0.17477	-0.774000	0.03397	1.000000	0.71638	0.012000	0.20211	0.352000	0.25704	0.3571:0.1128:0.4168:0.1133	2.672	0.04757	976	0.04745	FERM, N-terminal|Band 4.1 domain|FERM domain|Band 4.1 domain;FERM, N-terminal|Band 4.1 domain|FERM domain|Band 4.1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1480.33	33	chr10	48232155	.	G	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.29;DP=758;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.177;SOR=0.81	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1284	18	0	1	0
chr10	48240413	48240413	G	A	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon4:c.C575T:p.T192I,FRMPD2:NM_001018071:exon6:c.C647T:p.T216I	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0142827435549	.	.	7.436e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs753960656	6.228e-05	6.225e-05	5.04e-05	7.429e-05	0.0008	5.164e-05	4.783e-05	0.0006	0.0006	0	0	0	0	0	0.0003	1.079e-05	0.0002	0.0008	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.133	0.26409	T	0.158	0.31629	T	0.115	0.27908	B	0.05	0.25678	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	1.55	0.64086	T	-1.17	0.31778	N	0.132	0.12770	-1.0019	0.29372	T	0.118	0.41516	T	9	0.04069388	0.02659	T	0.014283	0.34290	T	0.037	0.09474	0.222	0.14518	0.266843984389	0.26308	0.1123104565144746	0.11160	0.0329144133845	0.03442	0.407691538334	0.26137	T	0.017726	0.14410	T	-0.515319	0.00468	T	-0.650036	0.08951	T	0.0206452624681871	0.00764	T	0.657934	0.26722	T	0.035171222	0.04089	0.043851912	0.05550	0.035171222	0.04089	0.043851912	0.05550	-3.635	0.23173	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	0.422414	0.07933	4.638	0.96770275706375664	0.31034	0.02076	0.06179	N	AEFDBI	0.030404	0.03055	N	-0.881945562896125	0.11273	0.5431033	-0.930283459167976	0.11381	0.5794659	0.621556980829882	0.21890	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	1.04	0.19220	0.197000	0.16999	-0.869000	0.07110	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1255:0.0:0.4589:0.4156	3.898	0.08652	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1383.33	34	chr10	48240413	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.853;DP=723;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.673;SOR=0.933	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	18	0	1	0
chr10	48446551	48446551	T	C	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon8:c.A1667G:p.K556R,ARHGAP22:NM_001347735:exon9:c.A1808G:p.K603R,ARHGAP22:NM_001256024:exon10:c.A1985G:p.K662R,ARHGAP22:NM_001256025:exon10:c.A1955G:p.K652R,ARHGAP22:NM_021226:exon10:c.A1937G:p.K646R,ARHGAP22:NM_001347738:exon11:c.A1955G:p.K652R	.	416	1105	1	0	0	1	0.000452284	.	.	.	3587172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00778818710783	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760805908	1.915e-05	1.915e-05	1.77e-05	2.063e-05	2.248e-05	1.328e-05	1.144e-05	1.543e-05	1.304e-05	0	2.236e-05	0	0	0	0	2.248e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.06648	T	0.773	0.08419	T	0.003	0.20480	B	0.002	0.19966	B	0.000616	0.42945	N	0.227351	0.980981	0.28463	N	0.355	0.11969	N	0.43	0.56772	T	0.04	0.06488	N	0.024	0.06059	-0.9999	0.29945	T	0.055	0.23338	T	10	0.022904038	0.00584	T	0.007788	0.20668	T	0.046	0.12618	0.187	0.09646	0.260249123532	0.25628	0.05886270314444771	0.05827	0.139183365146	0.15689	0.300786048174	0.10517	T	0.026697	0.19702	T	-0.24528	0.14682	T	-0.574618	0.15029	T	0.0210060626268387	0.00801	T	0.845015	0.53996	T	0.01808494	0.00330	0.03523904	0.02738	0.01808494	0.00330	0.03523904	0.02738	-3.263	0.13265	T	.	.	0.067	0.10352	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.338350	0.17444	13.17	0.56854255616115279	0.05642	0.51721	0.28962	D	AEFDBCI	0.154242	0.27924	N	-1.0247267943908	0.08093	0.3782556	-0.938112222515869	0.11200	0.5691088	0.99059970086479	0.32205	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	-1.69	0.07747	0.240000	0.17822	0.197000	0.15809	0.665000	0.62972	0.988000	0.36536	0.984000	0.30665	0.984000	0.60418	0.0:0.6098:0.0:0.3902	10.344	0.43079	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1785.33	45	chr10	48446551	.	T	C	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.135;DP=851;ExcessHet=0;FS=4.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.727;SOR=0.399	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1314	18	0	1	0
chr10	48450610	48450610	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon7:c.G1249C:p.V417L,ARHGAP22:NM_001347735:exon8:c.G1390C:p.V464L,ARHGAP22:NM_001256024:exon9:c.G1567C:p.V523L,ARHGAP22:NM_001256025:exon9:c.G1537C:p.V513L,ARHGAP22:NM_021226:exon9:c.G1519C:p.V507L,ARHGAP22:NM_001347738:exon10:c.G1537C:p.V513L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0152799503802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.433e-06	1.368e-06	1.414e-06	1.452e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.726e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.31235	T	0.883	0.15456	T	0.004	0.29776	B	0.005	0.27432	B	0.039242	0.24192	N	0.441828	0.966047	0.31491	N	2.175	0.60977	M	2.7	0.29085	T	-0.94	0.30762	N	0.059	0.04668	-1.0411	0.16981	T	0.052	0.22114	T	10	0.06216362	0.07906	T	0.01528	0.35920	T	0.012	0.01476	0.146	0.04941	0.144782658237	0.14088	0.17977883057642272	0.17896	0.172049026546	0.19376	0.37939375639	0.22171	T	0.050896	0.28726	T	-0.259376	0.12973	T	-0.610352	0.11955	T	0.128267889366925	0.15221	T	0.885311	0.61533	D	0.06730019	0.14560	0.053071994	0.08868	0.06730019	0.14560	0.053071994	0.08868	-2.622	0.07363	T	.	.	0.101	0.36012	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.115995	0.15017	11.52	0.84648781748321977	0.15415	0.39116	0.26140	N	AEFDBCI	0.282873	0.39610	N	-0.629744595884624	0.18054	0.934288	-0.600828906608745	0.19472	1.044852	0.999794013208528	0.43153	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.03	3.13	0.35090	1.614000	0.36522	-0.203000	0.10926	0.545000	0.25583	0.079000	0.22314	0.000000	0.08366	0.008000	0.08271	0.1808:0.6217:0.0:0.1976	4.324	0.10471	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001657	0.000000	0.001479	0.000000	0.000000	0.000000	0.006803	0.000000	0.02632	1251.33	49	chr10	48450610	.	C	G	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=1133;ExcessHet=0;FS=4.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.11;SOR=1.22	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr10	48459790	48459790	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon3:c.G283C:p.E95Q,ARHGAP22:NM_001347735:exon4:c.G424C:p.E142Q,ARHGAP22:NM_001256024:exon5:c.G601C:p.E201Q,ARHGAP22:NM_001256025:exon5:c.G571C:p.E191Q,ARHGAP22:NM_021226:exon5:c.G553C:p.E185Q,ARHGAP22:NM_001347738:exon6:c.G571C:p.E191Q	.	427	1086	9	0	0	9	0.00412655	.	.	.	752111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00842980633544	0.0006	0.000998403	0.0015	9.639e-05	0.0003	0	0	0.0010	0	0.0062	0.0012678	196	154602	rs141575110	0.0009	0.0009	0.0007	0.0011	0.0060	0.0009	0.0008	0.0056	0.0054	8.961e-05	0.0003	0.0107	2.519e-05	0	0.0009	0.0004	0.0013	0.0060	0.0007	0.0007	0.0006	0.0009	0.0066	0.0006	0.0006	0.0048	0.0042	7.214e-05	0	0.0004	0.0110	0	0	0.0102	0.0004	0.0024	0.0066	0.411	0.28646	T	0.324	0.19480	T	0.592	0.73220	P	0.349	0.67262	B	0.000001	0.62929	D	0.056233	1	0.81001	D	1.435	0.35949	L	2.2	0.18570	T	-1.73	0.41046	N	0.285	0.32591	-1.1231	0.02144	T	0.084	0.32986	T	10	0.0058410764	0.00130	T	0.00843	0.22307	T	0.142	0.37995	.	.	0.238705975628	0.23479	0.45996758904412854	0.45914	0.351601627077	0.36998	0.567807674408	0.48367	T	0.056836	0.30398	T	-0.439707	0.01298	T	-0.402604	0.33081	T	0.0490215323719967	0.05328	T	0.878312	0.59309	D	0.3977095	0.60573	0.15204486	0.35789	0.3977095	0.60574	0.15204486	0.35789	-3.51	0.16572	T	.	.	0.078	0.28835	B	.;.;.;.;.;.	.;.;.;.;.;.	3.560714	0.50099	22.9	0.99586095798452834	0.73336	0.89500	0.50004	D	AEFDBHCIJ	0.709495	0.66356	D	0.105659509635348	0.46726	2.908665	0.195989930216317	0.49625	3.163599	1.0	0.98316	0.743674	0.98306	0	0.615948	0.52940	0	0.659943	0.59835	0	0.584449	0.35598	0	.	.	4.9	4.9	0.63643	2.008000	0.40513	5.846000	0.50293	0.549000	0.26987	0.962000	0.33725	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.242	0.86899	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	1759.83	40	chr10	48459790	.	C	G	1759.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.704;DP=845;ExcessHet=0.119;FS=1.908;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.039;SOR=0.536	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	17	0	2	0
chr10	48731212	48731212	C	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon9:c.C1232A:p.T411N,WDFY4:NM_001370154:exon9:c.C1232A:p.T411N,WDFY4:NM_020945:exon9:c.C1232A:p.T411N	.	418	1103	1	0	0	1	0.000453104	.	.	.	3489626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0030618480555	.	.	4.585e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs771657240	2.215e-05	2.121e-05	1.974e-05	2.463e-05	0.0002	1.588e-05	1.383e-05	1.59e-05	1.344e-05	0	0	0	0	0	0.0002	2.317e-05	6.892e-05	1.262e-05	2.628e-05	2.627e-05	5.138e-05	0	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.409e-05	0	0	0.453	0.08917	T	0.016	0.72224	D	0.928	0.52538	P	0.55	0.50808	P	.	.	.	.	0.538058	0.31435	N	1.415	0.35607	L	1.09	0.39223	T	-0.67	0.19297	N	0.232	0.56489	-0.9844	0.33975	T	0.118	0.41407	T	9	0.19027463	0.34664	T	0.003062	0.06606	T	0.104	0.29647	0.369	0.37850	0.185906805712	0.18197	0.4296153201987226	0.42878	.	.	0.586096405983	0.50945	T	0.005801	0.05248	T	-0.121917	0.32810	T	-0.402083	0.33141	T	0.380896896123886	0.28217	T	0.757524	0.38090	T	0.10735173	0.25384	0.1487549	0.35150	0.10735173	0.25383	0.1487549	0.35149	-2.559	0.13841	T	.	.	0.103	0.21466	B	.;.	.;.	3.502162	0.48999	22.7	0.98957618605812303	0.49266	0.93047	0.57193	D	AEFBI	0.612322	0.60044	D	0.240339118580202	0.53162	3.486467	0.320427971203134	0.56743	3.837979	0.999988292570121	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	1.597000	0.36340	3.327000	0.37595	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.880000	0.42090	0.0:1.0:0.0:0.0	18.571	0.91091	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	43	chr10	48731212	.	C	A	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=864;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.816;SOR=1.047	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	18	0	1	0
chr10	48776882	48776882	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon16:c.C2996T:p.A999V,WDFY4:NM_020945:exon16:c.C2996T:p.A999V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0102984573355	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs568244681	8.002e-05	7.661e-05	7.754e-05	8.257e-05	9.546e-05	6.779e-05	6.339e-05	8.01e-05	7.48e-05	0	0	0	0	4.048e-05	0	9.546e-05	8.611e-05	2.524e-05	7.229e-05	7.224e-05	8.995e-05	5.38e-05	0.0002	3.972e-05	3.128e-05	9.047e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.011	0.64786	D	0.583	0.38873	P	0.084	0.29270	B	.	.	.	.	1	0.08975	N	0.085	0.08345	N	1.36	0.34452	T	0.39	0.03521	N	0.105	0.08925	-1.0919	0.05223	T	0.062	0.25887	T	8	0.02262935	0.00570	T	0.010298	0.26676	T	0.064	0.18567	.	.	0.0482279557977	0.04254	0.2825049225251241	0.28163	.	.	0.283111989498	0.07931	T	0.002702	0.02096	T	-0.378985	0.03162	T	-0.527116	0.19576	T	0.0514280919993041	0.05750	T	0.693931	0.30359	T	0.017369738	0.00267	0.05894437	0.10981	0.017369738	0.00267	0.05894437	0.10980	0.719	0.00173	T	.	.	0.120	0.24867	B	.	.	1.446716	0.18669	13.86	0.62362235076721606	0.06943	0.05383	0.11247	N	AEFDBI	0.092676	0.18759	N	-0.569406138276066	0.19879	1.04385	-0.573367781417775	0.20189	1.086575	0.999614528473475	0.40981	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	3.65	0.40985	2.143000	0.41811	3.361000	0.37860	-0.182000	0.10109	0.009000	0.18154	0.998000	0.33993	0.746000	0.35646	0.0:0.8482:0.0:0.1518	10.873	0.46106	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1600.33	33	chr10	48776882	.	C	T	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=756;ExcessHet=0;FS=1.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.25;SOR=0.826	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1413	18	0	1	0
chr10	48897552	48897552	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon45:c.G7415A:p.R2472Q	.	422	1076	22	2	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0055	0.00559105	0.0042	0.0123	0.0025	0	0	0.0063	0	0.0010	0.0014683	227	154602	rs114867285	0.0028	0.0027	0.0028	0.0028	0.0346	0.0028	0.0027	0.0306	0.0291	0.0130	0.0080	0.0156	2.798e-05	2.144e-05	0.0346	0.0021	0.0060	0.0014	0.0063	0.0063	0.0058	0.0069	0.0133	0.0060	0.0059	0.0118	0.0113	0.0112	0	0.0133	0.0219	0	9.411e-05	0.0238	0.0027	0.0128	0.0010	0.017	0.51248	D	0.044	0.49663	D	0.568	0.38507	P	0.14	0.33554	B	0.015957	0.28108	N	0.334787	1	0.81001	D	2.045	0.56016	M	0.51	0.55439	T	-1.21	0.30762	N	0.208	0.23125	-1.0999	0.04103	T	0.065	0.26948	T	9	0.0048389435	0.00103	T	.	.	.	0.039	0.10176	.	.	0.238705975628	0.23479	0.33144262079531417	0.33057	.	.	0.25613796711	0.04442	T	0.01525	0.12830	T	-0.453173	0.01082	T	-0.412052	0.31988	T	0.00713104304871222	0.00081	T	0.713829	0.32570	T	0.04787079	0.08254	0.047829837	0.06976	0.04787079	0.08254	0.047829837	0.06976	-4.93	0.36071	T	.	.	0.080	0.07841	B	.	.	2.366957	0.30367	18.41	0.99650189834707581	0.77254	0.15140	0.18764	N	AEFDBCI	0.085209	0.17273	N	-0.462221795726552	0.23326	1.25191	-0.431818342241869	0.24068	1.315994	0.601135840412487	0.21727	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	2.06	0.25932	0.378000	0.20298	1.918000	0.29691	-0.106000	0.15538	0.170000	0.23934	0.999000	0.35428	0.835000	0.39381	0.4047:0.0:0.5953:0.0	5.360	0.15385	970	0.06235	PH-BEACH domain|PH-BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.042857	0.068421	0.028571	0.065789	0.000000	0.000000	0.000000	0.023810	0.02632	1409.33	34	chr10	48897552	.	G	A	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=746;ExcessHet=0;FS=0.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.61;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	18	0	1	0
chr10	48913495	48913495	G	C	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.C661G:p.L221V,LRRC18:NM_001378102:exon3:c.C661G:p.L221V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.060322647362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.9	0.49598	P	0.353	0.42910	B	0.001071	0.40389	N	0.170747	0.995622	0.81001	D	3.155	0.88459	M	0.42	0.56937	T	-1.65	0.39503	N	0.461	0.49783	-0.7809	0.56252	T	0.197	0.55187	T	9	0.40820348	0.56040	T	0.060323	0.67963	D	0.269	0.58381	0.452	0.51448	0.705138454605	0.70257	0.68583599254304	0.68523	0.0214250169571	0.02126	0.53179359436	0.43288	T	0.018797	0.15093	T	0.0865489	0.62798	D	-0.113455	0.62336	T	0.82023298740387	0.47790	D	0.525947	0.17303	T	0.092512645	0.21705	0.0927388	0.21870	0.092512645	0.21705	0.0927388	0.21869	-4.063	0.24743	T	.	.	0.138	0.30184	B	.	.	1.470075	0.18941	14.01	0.98922085207808319	0.48583	0.97190	0.73220	D	AEFBI	0.685297	0.64735	D	0.181993926466972	0.50335	3.22446	0.154249766747953	0.47367	2.968052	0.0139026329257664	0.12526	0.497415	0.19182	0	0.446627	0.06534	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	3.95	0.44952	2.385000	0.44025	2.013000	0.30174	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1447:0.0:0.7169:0.1384	7.332	0.25762	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1949.33	37	chr10	48913495	.	G	C	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.307;DP=1356;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.937;SOR=0.726	GT:AD:DP:GQ:PL	0/1:95,102:197:99:1963,0,2370	18	0	1	0
chr10	48913750	48913750	C	T	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.G406A:p.V136M,LRRC18:NM_001378102:exon3:c.G406A:p.V136M	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00817771097887	0.0002	0.000199681	0.0005	0.0002	0.0034	0	0	0.0001	0.0033	0.0002	0.0003946	61	154602	rs138127999	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0015	0.0014	5.975e-05	0.0018	3.827e-05	5.039e-05	1.872e-05	0.0009	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0008	0	0	0	0	0.0002	0	0.0008	0.036	0.43393	D	0.026	0.55759	D	0.987	0.61912	D	0.502	0.47702	P	0.000086	0.51296	D	0.134780	0.93278	0.81001	D	2.585	0.75554	M	2.3	0.16953	T	-0.4	0.13805	N	0.306	0.34552	-1.0841	0.06572	T	0.052	0.22076	T	9	0.026784837	0.00837	T	0.008178	0.21674	T	0.131	0.35738	.	.	0.538097488659	0.53462	0.4146914298142841	0.41385	0.0178036153524	0.01746	0.584950566292	0.50783	T	0.01047	0.09450	T	-0.506799	0.00523	T	-0.507543	0.21568	T	0.0654367071954533	0.07995	T	0.892711	0.62952	D	0.049725726	0.08872	0.06774944	0.14058	0.049725726	0.08871	0.06774944	0.14058	-6.659	0.51501	T	.	.	0.386	0.58768	A	.	.	4.189493	0.63134	24.5	0.9986537320519242	0.94366	0.79305	0.39272	D	AEFBI	0.180961	0.30828	N	0.519797032734094	0.68262	5.192933	0.537709637221554	0.70548	5.521207	0.00729375901307557	0.11431	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.98	0.65679	2.698000	0.46736	4.857000	0.45432	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.452000	0.27939	0.0:0.437:0.4325:0.1306	5.101	0.14094	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3669.33	95	chr10	48913750	.	C	T	3669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=2702;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.109;SOR=0.647	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	18	0	1	0
chr10	48976824	48976824	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon59:c.C9136T:p.H3046Y	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00906952937368	.	0.000199681	0.0010	0	0.0031	0	0	0	0	0.0055	9.06e-05	14	154602	rs565549386	0.0001	0.0001	8.723e-05	0.0001	0.0011	8.75e-05	8.2e-05	0.0009	0.0009	0	0	0	0	0	0.0007	3.989e-05	0.0002	0.0011	6.565e-05	6.561e-05	5.138e-05	8.057e-05	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.533e-05	0	0	0	0	7.349e-05	0	0.0008	0.839	0.02818	T	0.459	0.12632	T	0.315	0.32886	B	0.029	0.21540	B	0.180735	0.17110	N	0.603511	0.999696	0.26840	N	1.01	0.25309	L	1.62	0.28189	T	0.37	0.03639	N	0.148	0.15046	-1.0309	0.20163	T	0.094	0.35578	T	9	0.007259369	0.00165	T	0.00907	0.23869	T	0.119	0.33137	0.461	0.52916	0.0666544352282	0.05500	0.3636899630063193	0.36282	.	.	0.509078025818	0.40093	T	0.004228	0.03640	T	-0.437543	0.01337	T	-0.436655	0.29183	T	0.0281064409927212	0.01703	T	0.787021	0.42574	T	0.049080648	0.08660	0.05367981	0.09090	0.049080648	0.08659	0.05367981	0.09089	-4.947	0.36259	T	.	.	0.078	0.06756	B	.	.	2.735971	0.35827	20.0	0.82837682433971382	0.14401	0.18694	0.20364	N	AEFDBCI	0.161376	0.28743	N	-0.0352069164638722	0.40265	2.388316	-0.0140503007391816	0.39080	2.311737	0.0414398659266497	0.14484	0.706298	0.61202	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	4.7	0.58776	0.817000	0.26938	5.890000	0.50749	0.599000	0.40250	0.008000	0.17931	1.000000	0.68203	0.985000	0.61073	0.0:0.7072:0.1912:0.1016	6.293	0.20277	970	0.06235	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	858.33	34	chr10	48976824	.	C	T	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.462;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr10	49167001	49167001	A	G	exonic	TMEM273	.	nonsynonymous SNV	TMEM273:NM_001010863:exon3:c.T106C:p.Y36H,TMEM273:NM_001288740:exon3:c.T106C:p.Y36H,TMEM273:NM_001288741:exon3:c.T106C:p.Y36H,TMEM273:NM_001288742:exon3:c.T106C:p.Y36H,TMEM273:NM_001288743:exon3:c.T106C:p.Y36H,TMEM273:NM_001353330:exon3:c.T106C:p.Y36H,TMEM273:NM_001353331:exon3:c.T106C:p.Y36H	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0214624748489	8e-05	0.00139776	0.0011	0	0	0	0	0.0003	0.0011	0.0066	0.0009767	151	154602	rs199583022	0.0005	0.0005	0.0003	0.0008	0.0062	0.0005	0.0005	0.0058	0.0056	0	6.708e-05	0.0014	0	3.747e-05	0.0014	0.0001	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0	0	0	0.0012	0	0	0.0034	0.0002	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.009473	0.30346	N	0.000000	0.671823	0.30357	N	.	.	.	0.11	0.61677	T	-5.0	0.82341	D	0.667	0.80669	-0.4716	0.69669	T	0.290	0.66192	T	10	0.010825038	0.00239	T	0.021462	0.44231	T	0.304	0.62510	.	.	0.564170363345	0.56080	0.227659367843968	0.22680	0.156486346246	0.17663	.	.	.	0.23071	0.59686	T	-0.223307	0.17545	T	-0.0907903	0.64103	T	0.130144280873542	0.15395	T	0.814119	0.47570	T	0.5399818	0.69395	0.6165812	0.77678	0.5399818	0.69396	0.6165812	0.77679	-9.844	0.73256	D	.	.	0.911	0.86137	P	.;.;.;.;.	.;.;.;.;.	3.594779	0.50741	23.0	0.99728549662743327	0.82619	0.89237	0.49581	D	AEFDBCIJ	0.595868	0.59025	D	0.237377923509716	0.53018	3.472727	0.143964371255361	0.46823	2.922082	0.99999999999488	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.586402	0.36253	0	.	.	4.4	4.4	0.52402	3.818000	0.55378	10.702000	0.83594	0.677000	0.82338	0.991000	0.37257	1.000000	0.68203	0.066000	0.16387	1.0:0.0:0.0:0.0	9.948	0.40791	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	823.33	46	chr10	49167001	.	A	G	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=747;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.252;SOR=0.515	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr10	49325244	49325244	G	A	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.G2699A:p.G900D	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0124814415956	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	3.23e-05	5	154602	rs767292538	9.789e-05	9.371e-05	8.318e-05	0.0001	0.0067	8.452e-05	7.922e-05	0.0050	0.0044	0	0.0001	7.942e-05	2.798e-05	0	0.0067	5.561e-05	0.0002	0.0002	5.909e-05	5.905e-05	6.424e-05	5.37e-05	0.0001	3.075e-05	2.208e-05	4.765e-05	3.339e-05	2.406e-05	0	6.533e-05	0	0	0	0	0.0001	0	0	0.005	0.63226	D	0.012	0.63918	D	.	.	.	.	.	.	0.335621	0.14044	U	0.528419	1	0.08975	N	.	.	.	3.31	0.06291	T	-1.89	0.44094	N	0.159	0.16586	-1.0525	0.13709	T	0.026	0.11353	T	8	0.08427501	0.14108	T	0.012481	0.31090	T	0.195	0.47612	0.108	0.01928	0.312001716656	0.30816	0.24299212024162217	0.24213	0.325923819181	0.34745	.	.	.	.	.	.	-0.347405	0.04892	T	-0.477121	0.24754	T	0.0447675079148597	0.04559	T	0.475152	0.14192	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26388	B	.	.	1.946082	0.24719	16.50	0.99601909700346258	0.74278	0.06251	0.12241	N	AEFDBI	0.064205	0.12455	N	-0.257681003765208	0.30797	1.720652	-0.322029889920354	0.27387	1.519399	0.973950714007223	0.29500	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.28	4.37	0.51830	0.397000	0.20608	0.290000	0.16862	-0.186000	0.09761	0.001000	0.13787	0.000000	0.08366	0.349000	0.25636	0.0:0.4026:0.4633:0.1341	9.835	0.40133	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001190	0.005263	0.006024	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1714.33	151	chr10	49325244	.	G	A	1714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.792;DP=2509;ExcessHet=0;FS=4.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.44;SOR=1.083	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	0	1	0
chr10	49610979	49610979	C	T	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.C239T:p.P80L	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1368593	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00367511564543	.	.	1.799e-05	0	9.266e-05	0	0	1.644e-05	0	0	1.29e-05	2	154602	rs778513207	9.593e-06	9.577e-06	6.815e-06	1.24e-05	0.0002	5.57e-06	4.36e-06	0.0001	9.226e-05	0	0.0002	0	0	0	0	2.701e-06	1.661e-05	0	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.309	0.14064	T	0.262	0.22895	T	0.005	0.12996	B	0.016	0.17743	B	0.198671	0.16657	N	0.531795	0.999999	0.08975	N	0.35	0.11930	N	3.55	0.04746	T	0.39	0.03521	N	0.06	0.03175	-0.9188	0.45716	T	0.008	0.02968	T	10	0.058499962	0.06888	T	0.003675	0.08464	T	0.041	0.10877	0.5	0.59147	0.418467456957	0.41465	0.36841753159550406	0.36755	.	.	0.336299180984	0.15884	T	0.139449	0.47348	T	-0.449224	0.01141	T	-0.685412	0.06659	T	0.0377563471580952	0.03289	T	0.589541	0.21661	T	0.07309346	0.16310	0.101580195	0.24322	0.07309346	0.16309	0.101580195	0.24321	-4.61	0.32297	T	.	.	0.105	0.19235	B	.	.	2.053624	0.26105	17.00	0.9691175305916826	0.31581	0.51782	0.28976	D	AEFDBHCI	0.178269	0.30553	N	-0.681405798408939	0.16552	0.8443112	-0.556257910787734	0.20639	1.112925	0.922744647988213	0.26719	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.99	3.08	0.34576	0.406000	0.20754	2.429000	0.32722	0.596000	0.33519	0.000000	0.06391	0.989000	0.31174	0.947000	0.49155	0.4611:0.5389:0.0:0.0	9.933	0.40703	607	0.67291	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2295.33	34	chr10	49610979	.	C	T	2295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.08;DP=943;ExcessHet=0;FS=1.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.523;SOR=0.81	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1484	18	0	1	0
chr10	49752200	49752200	G	A	exonic	OGDHL	.	nonsynonymous SNV	OGDHL:NM_001143996:exon4:c.C356T:p.P119L,OGDHL:NM_001347820:exon4:c.C356T:p.P119L,OGDHL:NM_001347819:exon5:c.C527T:p.P176L,OGDHL:NM_001347823:exon5:c.C527T:p.P176L,OGDHL:NM_001347824:exon5:c.C527T:p.P176L,OGDHL:NM_018245:exon5:c.C527T:p.P176L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0167126108196	.	.	2.48e-05	0	0	0	0	1.503e-05	0	0.0001	2.59e-05	4	154602	rs771196010	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	2.987e-05	0	0	0	1.874e-05	0.0003	1.259e-05	3.311e-05	3.478e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.039	0.47320	D	0.069	0.44501	T	0.999	0.90584	D	0.985	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.155	0.88459	M	2.55	0.13795	T	-8.88	0.98138	D	0.512	0.58713	-1.1177	0.02482	T	0.096	0.36212	T	10	0.68736225	0.71643	D	0.016713	0.38094	T	0.503	0.78538	0.463	0.53242	0.569914523039	0.56656	0.919462308306856	0.91922	0.392667314243	0.40446	0.737635970116	0.72624	T	0.35958	0.72596	T	0.0806963	0.62123	D	0.0596661	0.74223	D	0.919783234596252	0.57866	D	0.99596	0.98610	D	0.4578229	0.64535	0.41123602	0.65361	0.4578229	0.64536	0.41123602	0.65361	-12.216	0.85887	D	0.4590027669484028	0.54149	0.960	0.88082	P	.;.	.;.	4.678972	0.74854	26.2	0.9988809248300764	0.96281	0.99203	0.92752	D	AEFDBI	0.970653	0.99287	D	0.799904545893348	0.86098	8.778163	0.783324344969903	0.88609	9.647411	0.999999999421547	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	5.44	5.44	0.79348	7.736000	0.83883	11.821000	0.97240	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	19.257	0.93937	916	0.20744	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	874.33	46	chr10	49752200	.	G	A	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.013;DP=779;ExcessHet=0;FS=2.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.68;SOR=1.071	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	180.83	217	chr10	49933321	.	C	T	180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.89;DP=1610;ExcessHet=0.119;FS=52.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.83;MQRankSum=-8.132;QD=0.41;ReadPosRankSum=-0.383;SOR=6.923	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1492	17	0	2	0
chr10	50097803	50097803	G	A	splicing	WASHC2A	NM_001291398:exon16:c.1548+1G>A;NM_001330102:exon16:c.1548+1G>A;NM_001005751:exon16:c.1548+1G>A	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	0	.	.	0	.	.	.	.	.	rs1321790280	0.0009	0.0009	0.0009	0.0010	0.0023	0.0009	0.0009	0.0020	0.0019	0.0008	0.0002	0.0020	0	0.0047	0.0005	0.0007	0.0008	0.0023	0.0012	0.0012	0.0010	0.0013	0.0015	0.0010	0.0010	0.0009	0.0008	0.0011	0	0.0003	0.0014	0	0.0051	0	0.0008	0.0014	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147861	0.69067	D	-0.0253843	0.68674	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.581589	0.92305	32	0.98692127534514851	0.44780	0.84680	0.43765	D	AEFI	.	.	.	0.778874635708469	0.84767	8.380836	0.542924265117102	0.70905	5.574707	1.32507074981889E-4	0.05486	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.670919	0.42199	3.35	3.35	0.37468	4.919000	0.63082	9.141000	0.78911	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	10.967	0.46634	737	0.53483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1225.33	34	chr10	50097803	.	G	A	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.886;DP=762;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.29;MQRankSum=-1.326;QD=9.72;ReadPosRankSum=-1.233;SOR=0.801	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr10	50104141	50104141	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1735A:p.E579K,WASHC2A:NM_001291398:exon18:c.G1735A:p.E579K,WASHC2A:NM_001330102:exon18:c.G1735A:p.E579K	.	.	.	.	.	.	.	.	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00806134122702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.019	0.59159	D	0.979	0.65571	D	0.547	0.62173	P	0.000196	0.48115	D	0.177367	0.999951	0.52396	D	.	.	.	.	.	.	-2.9	0.62343	D	0.284	0.38129	-0.5916	0.65157	T	0.295	0.66640	T	9	0.13366267	0.25440	T	0.008061	0.21368	T	0.136	0.36778	0.283	0.23961	0.043077524339	0.03247	0.08302946398203838	0.08237	.	.	0.596591353416	0.52423	T	0.224715	0.58924	T	0.031738	0.55955	T	-0.192187	0.55385	T	0.935279011726379	0.60337	D	0.80302	0.47137	T	0.33316985	0.55729	0.3041158	0.56441	0.33316985	0.55729	0.3041158	0.56440	-10.594	0.77386	D	.	.	0.244	0.48071	B	.;.;.;.;.	.;.;.;.;.	4.818866	0.78469	26.9	0.99814579360661781	0.89797	0.80605	0.40199	D	AEFI	0.261847	0.37971	N	0.0540664108470331	0.44330	2.709031	-0.0580937172112838	0.37142	2.170761	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	2082.42	133	chr10	50104141	.	G	A	2082.42	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.609;DP=1289;ExcessHet=6.9875;FS=179.254;InbreedingCoeff=-0.4806;MLEAC=1;MLEAF=0.033;MQ=56.33;MQRankSum=1.03;QD=2.48;ReadPosRankSum=1.49;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:98,0:127:99:0|1:50104141_G_C:290,582,4038:50104141	14	0	1	4
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,29:127:99:0|1:50104141_G_C:290,0,3373:50104141	8	0	7	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,29:127:99:0|1:50104141_G_C:290,0,3373:50104141	11	0	6	2
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	1433.55	133	chr10	50104144	.	G	A	1433.55	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=3;MLEAF=0.088;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:98,0:127:99:0|1:50104141_G_C:290,582,4038:50104141	14	0	3	2
chr10	50127220	50127220	C	G	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon27:c.C2872G:p.Q958E	.	0	225	1	0	0	1	0.00221729	0.0095	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00532946976434	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422169188	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	0	0.0005	1.799e-06	0.0003	0.0050	0.0001	0.0001	5.138e-05	0.0002	0.0039	8.162e-05	6.719e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.006	0.61437	D	0.38	0.15988	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	.	.	.	.	.	.	-1.45	0.35597	N	0.481	0.60749	-0.2375	0.76691	T	0.418	0.76436	T	9	0.18184459	0.33435	T	0.022315	0.45196	T	0.221	0.51721	0.462	0.53079	0.0675242888579	0.06100	0.3192546355987355	0.31838	.	.	0.59601354599	0.52342	T	0.049065	0.28200	T	-0.0491521	0.44577	T	-0.30838	0.43833	T	0.943087875843048	0.61790	D	0.845215	0.53896	T	0.5394785	0.69367	0.49470663	0.70776	0.5394785	0.69368	0.49470663	0.70776	-12.662	0.87923	D	.	.	0.326	0.54940	B	.;.	.;.	4.597798	0.72796	25.9	0.97699190156895999	0.35424	0.95349	0.64374	D	AEFI	0.640040	0.61788	D	0.454262893905163	0.64445	4.69926	0.349911790257911	0.58503	4.02108	0.0287512528943601	0.13849	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.76	3.76	0.42368	6.148000	0.71557	7.671000	0.64778	0.432000	0.20950	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.466	0.60707	878	0.29785	FAM21/CAPZIP domain;FAM21/CAPZIP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2523.33	37	chr10	50127220	.	C	G	2523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.365;DP=879;ExcessHet=0;FS=6.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.4;MQRankSum=-1.81;QD=10.78;ReadPosRankSum=0.24;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr10	50189499	50189499	C	T	exonic	ASAH2	.	nonsynonymous SNV	ASAH2:NM_001143974:exon19:c.G2048A:p.R683H,ASAH2:NM_019893:exon20:c.G2153A:p.R718H	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00403142193537	.	.	0.0004	0	0	0	0	0.0001	0.0012	0.0025	0.0002975	46	154602	rs1427606029	0.0003	0.0001	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0013	0	0	0	0	0	0	3.833e-05	7e-05	0.0018	3.684e-05	8.395e-05	0	8.101e-05	0.0009	6.11e-06	2.29e-06	.	.	0	0	0	0	0	0	0	3.369e-05	0	0.0009	0.005	0.63226	D	0.009	0.67890	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	U	0.000000	0.999996	0.58761	D	.	.	.	0.86	0.46777	T	-3.45	0.68999	D	0.459	0.53269	-0.1020	0.80052	T	0.373	0.73144	T	9	0.7134393	0.73192	D	0.039698	0.58957	D	0.482	0.77206	0.743	0.87486	0.381916209588	0.37799	0.5955396225298861	0.59483	4.14057088863	0.99898	0.532687306404	0.43413	T	0.786584	0.94414	D	0.0952141	0.63771	D	-0.101008	0.63320	T	0.995632112026215	0.87784	D	0.964104	0.86689	D	0.5446292	0.69656	0.23271406	0.48440	0.5446292	0.69657	0.23271406	0.48439	-7.578	0.58157	D	.	.	0.137	0.46061	B	.;.;.;.;.	.;.;.;.;.	6.384396	0.95122	34	0.99942976389356286	0.99848	0.81135	0.40604	D	AEFI	0.410129	0.48113	N	0.595040141630803	0.72865	5.873352	0.497366578205415	0.67815	5.134824	0.913393405350978	0.26422	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.69	4.69	0.58546	3.172000	0.50532	3.842000	0.40046	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	15.090	0.71852	733	0.53988	Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;.;Neutral/alkaline non-lysosomal ceramidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	43.64	1	chr10	50189499	.	C	T	43.64	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=-0.1187;MLEAC=1;MLEAF=0.028;MQ=27;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.431;SOR=1.179	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,104	17	0	1	1
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P,PRKG1:NM_006258:exon10:c.G1090C:p.A364P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.4	34	chr10	52251583	.	G	C	33.4	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.296;DP=1512;ExcessHet=0.3672;FS=220.707;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.09;ReadPosRankSum=1.6;SOR=10.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:90,15:105:63:0|1:52251577_G_C:0,63,3246:52251577	15	0	3	1
chr10	52315038	52315038	G	T	exonic	DKK1	.	nonsynonymous SNV	DKK1:NM_012242:exon2:c.G359T:p.R120L	.	433	1065	23	1	0	25	0.0116009	.	.	.	3203121	DKK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.628	0.112200472305	0.0031	0.00179712	0.0030	0.0008	0.0014	0	0.0026	0.0045	0.0012	0.0016	0.0030336	469	154602	rs149268042	0.0032	0.0032	0.0032	0.0032	0.0065	0.0031	0.0031	0.0048	0.0043	0.0007	0.0020	0.0019	0	0.0026	0.0065	0.0037	0.0035	0.0009	0.0027	0.0026	0.0026	0.0027	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0028	0.0017	0	0.0018	0.0068	0.0044	0.0009	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.31	0.58613	T	-6.24	0.90530	D	0.869	0.86618	-0.2844	0.75420	T	0.356	0.71850	T	10	0.03161475	0.01298	T	0.112	0.79025	D	0.628	0.85666	.	.	0.845139130204	0.84365	0.8551742031728298	0.85480	1.46418215405	0.86425	0.691517591476	0.65924	T	0.884067	0.97593	D	-0.00284609	0.51263	T	0.223539	0.84353	D	0.0377790005916916	0.03294	T	0.940906	0.77861	D	0.865348	0.88496	0.91031516	0.95710	0.865348	0.88498	0.91031516	0.95711	-10.175	0.74953	D	.	.	0.890	0.82124	P	.	.	5.769340	0.93470	33	0.9985394765256036	0.93279	0.98452	0.82924	D	ALL	0.928434	0.91264	D	0.930171634963395	0.93158	11.85783	0.905322837866325	0.95801	13.98185	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.273489	0.05413	2	.	.	5.63	5.63	0.86108	9.493000	0.96944	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.269	0.93989	871	0.31377	Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.002717	0.000000	0.000000	0.008621	0.024390	0.000000	0.02632	1017.33	46	chr10	52315038	.	G	T	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.106;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.149;SOR=0.627	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr10	53806959	53806959	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354420:exon34:c.C4648T:p.R1550C,PCDH15:NM_001354429:exon37:c.C4777T:p.R1593C,PCDH15:NM_001384140:exon38:c.C4843T:p.R1615C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	4007805	Autosomal_recessive_nonsyndromic_hearing_loss_23|Usher_syndrome_type_1D|Usher_syndrome_type_1F	MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00606562582175	.	0.000199681	1.665e-05	0	0	0	0	1.509e-05	0	6.057e-05	1.29e-05	2	154602	rs570828018	1.163e-05	1.163e-05	1.361e-05	9.627e-06	2.319e-05	7.09e-06	5.79e-06	6.52e-06	5.03e-06	0	2.236e-05	0	0	0	0	1.169e-05	1.656e-05	2.319e-05	1.314e-05	1.312e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.81711	0.34722	D	.	.	.	.	.	.	.	.	.	0.55	0.84922	-0.1559	0.78771	T	0.435	0.77523	T	9	0.32615846	0.49917	T	0.006066	0.15846	T	0.253	0.56294	0.422	0.46529	0.478905595755	0.47518	.	.	.	.	.	.	.	0.051741	0.29924	T	-0.116632	0.33675	T	-0.223782	0.52371	T	0.81679493188858	0.47536	D	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-6.336	0.49007	T	.	.	0.373	0.61700	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.346220	0.66720	25.0	0.99841717576915789	0.92229	0.92721	0.56383	D	AEFGI	0.744662	0.68758	D	0.735731330709004	0.81976	7.649409	0.736585793741386	0.85151	8.49608	7.66553864448293E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	3.734000	0.54760	8.669000	0.78002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8542:0.1458	14.621	0.68184	968	0.07033	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	43	chr10	53806959	.	G	A	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=791;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.169;SOR=0.506	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	18	0	1	0
chr10	53808924	53808924	C	G	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354411:exon35:c.G5120C:p.S1707T	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0363480045367	.	.	8.813e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs768873162	1.13e-05	1.3e-05	8.379e-06	1.429e-05	0.0002	6.69e-06	5.41e-06	0.0001	9.224e-05	0	0	0	0	0	0	0	1.7e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.50676	D	0.297	0.29843	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	-0.27	0.67367	T	0.16	0.12661	N	0.162	0.17002	-0.9338	0.43575	T	0.144	0.46587	T	9	0.04319659	0.03143	T	0.036348	0.56932	D	0.099	0.28413	.	.	0.531873083431	0.52836	.	.	.	.	.	.	.	0.009363	0.08559	T	-0.460007	0.00983	T	-0.586165	0.13999	T	0.0228641170020077	0.01008	T	0.590441	0.21717	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.072	0.12985	B	.;.;.;.;.;.	.;.;.;.;.;.	0.391900	0.07635	4.300	0.74448843913456475	0.10699	0.00558	0.02546	N	AEFDHCI	0.037891	0.05280	N	-1.14600203690632	0.05845	0.2675748	-1.12148857799388	0.07290	0.3540624	0.00414537084316911	0.10434	0.55562	0.30534	0	0.615948	0.52940	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.46	1.33	0.20958	-0.348000	0.07789	1.641000	0.27792	-0.822000	0.02949	0.000000	0.06391	0.004000	0.18990	0.004000	0.06068	0.1442:0.2445:0.6113:0.0	8.314	0.31252	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3237.33	33	chr10	53808924	.	C	G	3237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=854;ExcessHet=0;FS=2.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.38;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	18	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.02632	856.33	33	chr10	54213995	.	G	A	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=715;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.051;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	18	0	1	0
chr10	60070826	60070826	T	C	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.A10055G:p.E3352G	.	420	1077	25	0	0	25	0.0114732	.	.	.	207749	ANK3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	0.0230743597086	0.0040	0.00119808	0.0038	0.0008	0.0018	0	0.0012	0.0058	0.0022	0.0025	0.0038292	592	154602	rs61845768	0.0046	0.0046	0.0045	0.0047	0.0161	0.0045	0.0045	0.0135	0.0125	0.0010	0.0034	0.0117	2.519e-05	0.0014	0.0161	0.0050	0.0051	0.0032	0.0033	0.0033	0.0034	0.0032	0.0051	0.0031	0.0030	0.0046	0.0045	0.0007	0	0.0033	0.0121	0	0.0005	0.0204	0.0051	0.0052	0.0033	0.132	0.26519	T	.	.	.	0.018	0.17786	B	0.007	0.12992	B	0.233434	0.15868	N	0.518786	1	0.81001	D	1.935	0.51832	L	-0.11	0.64445	T	-1.62	0.38924	N	0.088	0.06587	-1.0656	0.10409	T	0.084	0.32986	T	10	0.0064894557	0.00147	T	0.023074	0.46020	T	0.019	0.03383	.	.	0.373580267183	0.36973	0.1948335457882627	0.19401	0.163701473384	0.18462	0.27787655592	0.07198	T	0.331637	0.70169	T	-0.513479	0.00480	T	-0.508849	0.21434	T	0.00504151050206084	0.00054	T	0.743826	0.36376	T	0.054236542	0.10379	0.0780608	0.17447	0.054236542	0.10378	0.0780608	0.17447	-4.684	0.33210	T	.	.	0.067	0.02428	B	.	.	2.264217	0.28933	17.96	0.98760836750782177	0.45816	0.84945	0.44041	D	AEFBI	0.241973	0.36350	N	-0.445523196899912	0.23892	1.286245	-0.285032848571021	0.28592	1.595331	0.992646313027181	0.32916	0.553676	0.25195	0	0.573888	0.26702	0	0.573078	0.19857	0	0.620846	0.47308	0	.	.	5.48	1.78	0.23918	0.724000	0.25624	0.306000	0.17032	-0.112000	0.15009	1.000000	0.71638	0.025000	0.21018	0.996000	0.76049	0.0:0.1421:0.2937:0.5642	5.529	0.16262	720	0.55521	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.005051	0.012228	0.029240	0.000000	0.008621	0.003049	0.003788	0.02632	2353.33	35	chr10	60070826	.	T	C	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.06;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	60071736	60071736	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C9145T:p.P3049S	.	.	.	.	.	.	.	.	.	.	.	2813181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.239	0.0980468384735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009329743	4.149e-06	4.788e-06	2.749e-06	5.566e-06	0.0002	1.49e-06	9.8e-07	4.02e-06	1.5e-06	0	0	0	0	0	0.0002	1.808e-06	1.677e-05	2.421e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	0.000806	0.41658	D	0.000000	0.99845	0.81001	D	1.1	0.28011	L	-0.14	0.65006	T	-3.77	0.71397	D	0.546	0.57263	-0.2286	0.76924	T	0.400	0.75130	T	10	0.6400256	0.69003	D	0.098047	0.76876	D	0.239	0.54358	0.24	0.17218	0.524548123887	0.52101	0.12058577408623472	0.11985	0.623023121527	0.56539	0.576918363571	0.49651	T	0.620192	0.88083	D	-0.0280151	0.47704	T	-0.257747	0.49050	T	0.925541460514069	0.58732	D	0.90321	0.66112	D	0.2879683	0.51803	0.31502047	0.57491	0.2879683	0.51803	0.31502047	0.57490	-4.278	0.27867	T	.	.	0.544	0.66549	A	.	.	4.229740	0.64047	24.7	0.99882573207444247	0.95813	0.98661	0.85270	D	AEFBI	0.821946	0.74239	D	0.626348803437973	0.74845	6.202598	0.618004446776572	0.76245	6.456027	0.999999999997613	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.23	5.23	0.72570	4.155000	0.57910	11.920000	0.99804	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.794	0.91951	720	0.55521	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1258.33	111	chr10	60071736	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=1426;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.875;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	60073656	60073656	A	G	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.T7225C:p.S2409P	.	426	1070	24	2	0	28	0.0129151	.	.	.	133824	not_provided|not_specified|ANK3-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0049	0.00299521	0.0047	0.0013	0.0069	0.0001	0.0014	0.0065	0.0044	0.0018	0.0047024	727	154602	rs148904927	0.0057	0.0057	0.0057	0.0057	0.0101	0.0056	0.0056	0.0080	0.0072	0.0011	0.0076	0.0083	0	0.0012	0.0101	0.0063	0.0062	0.0024	0.0047	0.0047	0.0045	0.0048	0.0095	0.0044	0.0043	0.0082	0.0078	0.0011	0	0.0095	0.0069	0	0.0007	0.0238	0.0066	0.0090	0.0035	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.897	0.63631	P	0.000811	0.41658	D	0.000000	0.998664	0.81001	D	1.905	0.50856	L	-0.33	0.68329	T	-0.68	0.19509	N	0.554	0.57946	-0.4520	0.70335	T	0.251	0.62073	T	10	0.0094747245	0.00214	T	.	.	.	0.256	0.56694	.	.	0.617921971332	0.61483	0.19966895534832965	0.19883	0.639625809269	0.57622	0.689143061638	0.65583	T	0.267824	0.63989	T	-0.276491	0.11042	T	-0.160541	0.58304	T	0.016783986988244	0.00433	T	0.966503	0.87759	D	0.37089172	0.58651	0.41602647	0.65699	0.37089172	0.58651	0.41602647	0.65699	-5.163	0.38563	T	0.400965696034632	0.49277	0.717	0.73654	P	.	.	3.897056	0.56739	23.8	0.99838799887576313	0.91972	0.97498	0.75138	D	ALL	0.949432	0.96206	D	0.663769216260963	0.77264	6.641154	0.685545357946168	0.81281	7.490124	1.0	0.98316	0.487112	0.14033	0	0.172119	0.04017	3	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.186000	0.77262	11.220000	0.89740	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.149	0.81415	726	0.54788	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.010101	0.010870	0.005848	0.000000	0.025862	0.021341	0.007576	0.02632	1811.33	106	chr10	60073656	.	A	G	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=1034;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.503;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	60074326	60074326	C	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.G6555T:p.Q2185H	.	425	1096	1	0	0	1	0.000455996	.	.	.	207761	Intellectual_disability|Intellectual_disability-hypotonia-spasticity-sleep_disorder_syndrome|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0014210,MedGen:C3809672,OMIM:615493,Orphanet:356996|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.0306091220579	0.0005	0.000199681	0.0003	9.61e-05	0.0003	0	0.0003	0.0005	0	6.06e-05	0.0003622	56	154602	rs144465058	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	8.964e-05	0.0002	7.656e-05	0	0.0002	0	0.0005	0.0003	0.0002	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	7.218e-05	0	0.0003	0	0	9.42e-05	0	0.0007	0	0	0.01	0.56456	D	.	.	.	0.162	0.28404	B	0.145	0.33871	B	0.815049	0.09222	N	0.885835	1	0.18612	N	0.345	0.11182	N	-0.06	0.63568	T	-0.92	0.24676	N	0.118	0.10769	-0.9239	0.45013	T	0.157	0.48891	T	10	0.021631032	0.00522	T	0.030609	0.52882	D	0.030	0.07022	0.12	0.02719	0.363734036182	0.35979	0.27715629405267855	0.27628	0.148687959432	0.16773	0.288295358419	0.08675	T	0.269496	0.64170	T	-0.493591	0.00621	T	-0.538134	0.18480	T	0.0157628062706608	0.00366	T	0.810819	0.46223	T	0.086469226	0.20098	0.058285754	0.10744	0.086469226	0.20098	0.058285754	0.10744	-4.56	0.31665	T	0.16249570172808786	0.19964	0.133	0.28693	B	.	.	1.165824	0.15551	11.93	0.94652480583759158	0.25259	0.65343	0.32705	D	AEFDGBHCI	0.233247	0.35620	N	-0.582234115086139	0.19485	1.020128	-0.489867590448343	0.22431	1.218342	0.999999999999254	0.74766	0.487112	0.14033	0	0.587068	0.34093	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	2.04	0.25787	0.160000	0.16278	-2.390000	0.03814	-0.182000	0.10109	0.276000	0.25103	0.000000	0.08366	0.931000	0.46843	0.0:0.5468:0.1248:0.3284	5.836	0.17862	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1691.33	106	chr10	60074326	.	C	A	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.18;DP=1054;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.551;SOR=0.623	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	60076028	60076028	G	C	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4853G:p.S1618C	.	421	1098	3	0	0	3	0.00136426	.	.	.	2261179	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0273037264495	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779374906	1.026e-05	1.026e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	3.312e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	0.957	0.54824	D	0.525	0.48375	P	0.001136	0.40136	N	0.000000	1	0.81001	D	1.61	0.41143	L	-0.43	0.69657	T	-1.4	0.34596	N	0.208	0.23125	-0.4371	0.70827	T	0.307	0.67777	T	10	0.29258186	0.46835	T	0.027304	0.50134	D	0.231	0.53208	0.217	0.13788	0.550813894442	0.54739	0.30575993071296803	0.30488	0.246670485079	0.27206	0.476139724255	0.35526	T	0.356321	0.72319	T	-0.0351973	0.46659	T	-0.272849	0.47530	T	0.831864476203918	0.48676	D	0.863014	0.55864	D	0.26558423	0.49627	0.23225844	0.48381	0.26558423	0.49627	0.23225844	0.48380	-7.681	0.58875	D	.	.	0.093	0.14062	B	.	.	4.488185	0.70083	25.5	0.98442352811797407	0.41519	0.98558	0.84076	D	AEFBI	0.778661	0.71109	D	0.471950636921463	0.65458	4.825158	0.482399630070296	0.66825	5.002685	0.999999999989654	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	6.887000	0.75425	11.837000	0.97708	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.221	0.98326	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1919.33	106	chr10	60076028	.	G	C	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=922;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.353;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	60076361	60076361	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4520T:p.T1507I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0241909512726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.993	0.65571	D	0.738	0.55619	P	0.000573	0.43250	D	0.000000	0.998229	0.81001	D	1.7	0.43825	L	-0.23	0.66652	T	-1.94	0.45042	N	0.733	0.73375	-0.2689	0.75841	T	0.393	0.74619	T	10	0.7431318	0.75099	D	0.024191	0.47175	T	0.316	0.63799	0.361	0.36548	0.716686645318	0.71419	0.537031922882868	0.53628	0.634878381221	0.57326	0.682146191597	0.64577	T	0.290587	0.66336	T	0.153816	0.69625	D	-0.016831	0.69238	D	0.976152420043945	0.71252	D	0.927907	0.73422	D	0.3067246	0.53501	0.52223384	0.72397	0.3067246	0.53501	0.52223384	0.72398	-4.8	0.34591	T	0.1549353684652172	0.18537	0.208	0.43435	B	.	.	4.433577	0.68776	25.3	0.99871823505018165	0.94902	0.99083	0.90974	D	AEFDBI	0.923243	0.89941	D	0.803117354773635	0.86301	8.841422	0.838469583293644	0.92325	11.36168	0.999999999999681	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.201	0.98260	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1295.33	119	chr10	60076361	.	G	A	1295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=813;ExcessHet=0;FS=9.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.038;SOR=1.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1334	18	0	1	0
chr10	62376313	62376313	G	C	exonic	ZNF365	.	nonsynonymous SNV	ZNF365:NM_014951:exon2:c.G120C:p.L40F,ZNF365:NM_199450:exon2:c.G120C:p.L40F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	.	0.0074	0.00878594	0.0027	0.0254	0.0025	0	0	0.0005	0.0011	0	0.0026196	405	154602	rs79142251	0.0013	0.0013	0.0014	0.0012	0.0271	0.0013	0.0012	0.0256	0.0250	0.0271	0.0029	0.0001	0	1.872e-05	0.0047	0.0006	0.0027	3.478e-05	0.0082	0.0082	0.0087	0.0077	0.0263	0.0078	0.0077	0.0250	0.0245	0.0263	0	0.0065	0	0	0	0.0102	0.0005	0.0066	0	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.000000	0.974776	0.39133	D	1.04	0.26193	L	-0.06	0.63568	T	-2.77	0.72594	D	0.826	0.82157	-0.6524	0.62609	T	0.134	0.44720	T	10	0.009283781	0.00210	T	.	.	.	0.389	0.70521	0.304	0.27325	0.855891094515	0.85450	0.2763698991296513	0.27549	0.854601233187	0.68698	0.71561819315	0.69408	T	0.161151	0.50528	T	-0.200793	0.20691	T	-0.0402526	0.67685	D	0.0337482762077963	0.02596	T	0.978677	0.92517	D	0.2834305	0.51375	0.32061064	0.58014	0.2834305	0.51375	0.32061064	0.58014	-8.603	0.66615	D	.	.	0.482	0.63773	A	.;.;.;.	.;.;.;.	3.380211	0.46749	22.3	0.99873696373640752	0.95076	0.90675	0.52050	D	AEFBI	0.414241	0.48359	N	0.470217447253808	0.65360	4.812558	0.402094294570554	0.61696	4.373323	0.999544816007362	0.40300	0.625279	0.40028	0	0.563428	0.19063	0	0.577349	0.28860	0	0.59522	0.37078	0	.	.	5.83	2.94	0.33188	1.590000	0.36264	1.910000	0.29640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1354:0.0:0.7366:0.128	8.293	0.31132	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014617	0.065657	0.021739	0.005848	0.000000	0.000000	0.003067	0.000000	0.02632	1755.33	36	chr10	62376313	.	G	C	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=780;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.132;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr10	66928400	66928400	T	C	exonic	LRRTM3	.	nonsynonymous SNV	LRRTM3:NM_178011:exon2:c.T1484C:p.L495P	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0210988579812	.	0.000199681	0.0003	0	0	0	0	7.589e-05	0	0.0020	0.0002523	39	154602	rs201365004	0.0002	0.0002	9.12e-05	0.0003	0.0022	0.0002	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	4.227e-05	0.0001	0.0022	0.0001	0.0001	2.571e-05	0.0002	0.0027	8.165e-05	6.722e-05	0.0016	0.0013	0	0	0	0	0	0	0	8.821e-05	0	0.0027	0.049	0.39820	D	0.107	0.37730	T	0.0	0.02946	B	0.0	0.01387	B	0.000082	0.51296	D	0.000000	1	0.81001	D	-0.205	0.04094	N	-0.97	0.75670	T	-0.6	0.17834	N	0.431	0.47022	-0.8834	0.49489	T	0.151	0.47874	T	10	0.017988771	0.00388	T	0.021099	0.43815	T	0.275	0.59130	.	.	0.429154209284	0.42533	0.7731615097493554	0.77266	0.981655826999	0.73759	0.798032104969	0.81664	T	0.010569	0.09530	T	-0.327767	0.06281	T	-0.250376	0.49780	T	0.122545568997862	0.14676	T	0.768023	0.39669	T	0.2250605	0.45160	0.550758	0.74024	0.2250605	0.45160	0.550758	0.74025	-4.356	0.28955	T	.	.	0.201	0.42535	B	.	.	4.449385	0.69149	25.3	0.99355314950070273	0.60779	0.91277	0.53210	D	AEFBI	0.659900	0.63066	D	-0.164161901340802	0.34633	1.979259	0.113143098201384	0.45218	2.789071	0.996674030646167	0.34917	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.93	5.93	0.95888	5.146000	0.64688	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0773:0.0:0.9227	9.805	0.39954	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2050.33	35	chr10	66928400	.	T	C	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.255;DP=776;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.418;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	18	0	1	0
chr10	67885049	67885049	C	G	exonic	SIRT1	.	nonsynonymous SNV	SIRT1:NM_012238:exon1:c.C328G:p.P110A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0139105064527	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868722110	3.925e-06	4.104e-06	4.622e-06	3.2e-06	0.0002	1.15e-06	8.4e-07	5.1e-06	1.91e-06	0	0	0	0	0	0.0002	0	3.891e-05	3.074e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.08164	T	0.704	0.05642	T	0.002	0.09854	B	0.007	0.12992	B	0.091458	0.02458	N	2.260420	0.985652	0.24690	N	0	0.06538	N	2.58	0.13434	T	0.39	0.03521	N	0.142	0.14196	-0.9838	0.34116	T	0.016	0.06664	T	10	0.06582478	0.08937	T	0.013911	0.33663	T	0.109	0.30843	0.054	0.00134	0.15499578495	0.15088	0.05480559113914355	0.05421	0.24310875062	0.26815	0.719537854195	0.69979	T	0.173788	0.52278	T	-0.250008	0.14096	T	-0.596895	0.13072	T	0.098795970422255	0.12224	T	0.444656	0.12411	T	0.058592793	0.11805	0.09749021	0.23207	0.058592793	0.11804	0.09749021	0.23206	-3.277	0.13442	T	.	.	0.058	0.00705	B	.	.	2.020702	0.25676	16.85	0.85306478783295303	0.15811	0.70283	0.34527	D	ALL	0.089126	0.18065	N	-0.683952594868696	0.16479	0.8399436	-0.49309305605193	0.22343	1.213112	0.999999999999953	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.62	3.62	0.40616	2.175000	0.42119	6.127000	0.53864	0.501000	0.22741	0.998000	0.41325	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	11.095	0.47359	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	39	chr10	67885049	.	C	G	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.568;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr10	68199417	68199417	C	T	exonic	MYPN	.	nonsynonymous SNV	MYPN:NM_032578:exon17:c.C3335T:p.P1112L,MYPN:NM_001256267:exon18:c.C3335T:p.P1112L,MYPN:NM_001256268:exon21:c.C2453T:p.P818L	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	0	1468	53	1	0	55	0.0183885	.	.	.	40451	Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_dilated_cardiomyopathy|not_provided|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0014100,MedGen:C3714995,OMIM:615248,Orphanet:154,Orphanet:75249|MedGen:C3714998|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.445	0.0451777984656	0.0021	0.00259585	0.0030	0.0014	0.0026	0.0002	0.0005	0.0033	0.0088	0.0056	0.002846	440	154602	rs71534278	0.0024	0.0024	0.0023	0.0025	0.0246	0.0023	0.0023	0.0213	0.0201	0.0017	0.0038	0.0100	5.039e-05	0.0007	0.0246	0.0019	0.0039	0.0061	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0041	0.0037	0.0013	0	0.0050	0.0121	0	0.0007	0.0408	0.0022	0.0057	0.0052	0.053	0.38863	T	0.01	0.70582	D	0.999	0.77913	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.24	0.30952	L	-0.3	0.67874	T	-5.4	0.85103	D	0.536	0.62696	-0.6457	0.62900	T	0.240	0.60762	T	9	0.010449231	0.00232	T	0.045178	0.61853	D	0.445	0.74727	.	.	0.820044168459	0.81835	0.4913990938604239	0.49060	0.619803596011	0.56319	0.556120693684	0.46720	T	0.120118	0.44213	T	-0.16404	0.26139	T	0.000986146	0.70400	D	0.0206300320422611	0.00763	T	0.963704	0.86510	D	0.410868	0.61477	0.4796276	0.69860	0.4098049	0.61406	0.47645545	0.69665	-11.123	0.81267	D	.	.	0.139	0.40746	B	.;.;.;.	.;.;.;.	4.412194	0.68264	25.2	0.99910848685926734	0.98022	0.97039	0.72336	D	AEFBI	0.823586	0.74366	D	0.577579034945464	0.71777	5.70273	0.62738643556054	0.76936	6.583804	0.999968123657575	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.38	5.38	0.77279	6.010000	0.70411	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.1493:0.8507:0.0:0.0	14.201	0.65244	929	0.16858	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.030303	0.016304	0.026316	0.000000	0.025862	0.009202	0.007576	0.02632	1710.33	40	chr10	68199417	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=871;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.096;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr10	68210454	68210454	A	C	exonic	MYPN	.	stoploss	MYPN:NM_032578:exon20:c.A3962C:p.X1321S,MYPN:NM_001256267:exon21:c.A3962C:p.X1321S,MYPN:NM_001256268:exon24:c.A3080C:p.X1027S	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.103228	0.35891	T	-0.386056	0.35012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.209421	0.16023	12.26	0.7840277042299737	0.12285	0.97469	0.74950	D	AEFDBI	.	.	.	0.655956795770014	0.76756	6.545332	0.484648360778992	0.66972	5.02221	0.551124795103293	0.21335	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.288269	0.34340	6.16	3.83	0.43287	2.960000	0.48853	4.126000	0.42002	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.7736:0.0:0.2264:0.0	8.588	0.32827	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	34.44	52	chr10	68210454	.	A	C	34.44	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.378;DP=941;ExcessHet=0;FS=188.446;InbreedingCoeff=-0.0701;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.6;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:37:.:.:0,37,1722:.	16	0	1	2
chr10	68442975	68442975	G	A	exonic	DNA2	.	stopgain	DNA2:NM_001080449:exon9:c.C1357T:p.Q453X	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017433	0.27726	N	0.407511	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.945	0.96187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.719351	0.96795	36	0.99687643846168594	0.79708	0.74494	0.36443	D	AEFBI	0.074243	0.14875	N	0.661204817776327	0.77096	6.609309	0.499812235520014	0.67979	5.157059	0.393615813435153	0.20068	0.67177	0.52595	0	0.614415	0.52539	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.54	3.66	0.41111	2.207000	0.42426	5.570000	0.48940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.07:0.1275:0.5395:0.263	5.109	0.14132	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1625.33	36	chr10	68442975	.	G	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.894;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.68;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr10	68885225	68885225	G	C	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1429C:p.G477R,STOX1:NM_152709:exon3:c.G1429C:p.G477R	Preeclampsia/eclampsia 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0047	0.00459265	0.0014	0.0171	0.0006	0	0	0	0	0	0.0013454	208	154602	rs115442093	0.0004	0.0004	0.0005	0.0004	0.0170	0.0004	0.0004	0.0158	0.0154	0.0170	0.0007	0	0	0	0	8.993e-06	0.0007	1.159e-05	0.0045	0.0045	0.0047	0.0043	0.0158	0.0042	0.0041	0.0148	0.0144	0.0158	0	0.0013	0	0	0	0	4.41e-05	0.0019	0	0.266	0.16251	T	0.271	0.22291	T	0.933	0.52105	P	0.486	0.47228	P	0.656369	0.10467	N	0.836339	1	0.08975	N	2.045	0.56016	M	-0.78	0.73631	T	-1.47	0.35991	N	0.245	0.27673	-0.8464	0.52215	T	0.208	0.56690	T	10	0.008245975	0.00187	T	.	.	.	0.117	0.32689	.	.	0.341696514166	0.33777	0.0465858396914429	0.04602	0.185540929456	0.20862	0.228209704161	0.01838	T	0.012907	0.11259	T	-0.522729	0.00424	T	-0.509361	0.21381	T	0.0143908323249336	0.00289	T	0.572743	0.20478	T	0.056477673	0.11115	0.061606333	0.11923	0.046726637	0.07867	0.063583314	0.12616	-3.694	0.19230	T	0.48334035425377	0.56159	0.108	0.26545	B	.;.;.	.;.;.	0.558253	0.09270	6.050	0.66548956679182314	0.08091	0.30108	0.23997	N	AEFBI	0.228385	0.35206	N	-0.524451156520326	0.21291	1.128861	-0.65713268089645	0.18037	0.9617676	1.13474147862495E-4	0.05269	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.88	1.68	0.23219	0.227000	0.17575	1.623000	0.27698	-0.202000	0.08738	0.000000	0.06391	0.003000	0.18671	0.016000	0.10718	0.1317:0.1165:0.3942:0.3575	2.808	0.05100	677	0.60274	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2170.33	33	chr10	68885225	.	G	C	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.459;DP=810;ExcessHet=0;FS=5.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.495;SOR=0.635	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr10	69097217	69097217	G	C	exonic	SRGN	.	nonsynonymous SNV	SRGN:NM_002727:exon2:c.G213C:p.R71S,SRGN:NM_001321053:exon3:c.G213C:p.R71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00979436866021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.073	0.43159	T	0.288	0.32258	B	0.15	0.34161	B	0.124973	0.18860	N	0.470905	1	0.08975	N	1.7	0.43825	L	0.83	0.47815	T	-1.66	0.39692	N	0.122	0.11340	-0.9709	0.37009	T	0.122	0.42272	T	10	0.20056403	0.36107	T	0.009794	0.25540	T	0.085	0.24743	0.554	0.67133	0.629112818682	0.62608	0.3520288713593413	0.35116	0.771943149709	0.64812	0.275393694639	0.06859	T	0.28784	0.66063	T	-0.12666	0.32037	T	-0.419715	0.31107	T	0.359974682331085	0.27408	T	0.381062	0.09207	T	0.11982679	0.28209	0.11203003	0.27028	0.11982679	0.28208	0.11203003	0.27028	-3.268	0.13328	T	.	.	0.211	0.43935	B	.	.	2.138468	0.27230	17.39	0.99544334587286643	0.70711	0.19216	0.20574	N	AEFBCI	0.630833	0.61203	D	-0.262280052007535	0.30616	1.708788	-0.248373288842873	0.29827	1.674314	0.999998364789359	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.26	3.32	0.37134	1.443000	0.34668	.	.	0.672000	0.70159	0.005000	0.17040	0.002000	0.18203	0.366000	0.26021	0.0926:0.0:0.7339:0.1735	7.103	0.24525	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	43	chr10	69097217	.	G	C	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=818;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.429;SOR=0.861	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr10	70123442	70123442	T	A	exonic	AIFM2	.	nonsynonymous SNV	AIFM2:NM_001198696:exon3:c.A257T:p.D86V,AIFM2:NM_032797:exon3:c.A257T:p.D86V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0684591405726	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002393	37	154602	rs151032198	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0018	0.0017	0	4.472e-05	0	2.519e-05	1.872e-05	0.0007	5.845e-05	0.0003	0.0021	9.194e-05	9.187e-05	0.0001	8.058e-05	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	0	0	0	0	0	9.425e-05	0	0.0001	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.971	0.72444	D	0.000006	0.62929	D	0.140285	1	0.81001	D	2.865	0.83145	M	0.54	0.54911	T	-6.43	0.91311	D	0.908	0.91047	-0.4365	0.70846	T	0.305	0.67593	T	10	0.47165102	0.59898	T	0.068459	0.70457	D	0.598	0.84074	.	.	0.770801067495	0.76870	0.8356493000059243	0.83524	0.616023320025	0.56080	0.473914831877	0.35219	T	0.356156	0.72305	T	-0.0124231	0.49926	T	0.202115	0.83245	D	0.544160962104797	0.34259	D	0.844715	0.52235	T	0.89270604	0.90740	0.81104136	0.88966	0.89270604	0.90741	0.81104136	0.88967	-11.831	0.84018	D	.	.	0.642	0.70584	P	.;.;.	.;.;.	4.918971	0.81005	27.4	0.99405312663734824	0.63028	0.95437	0.64717	D	AEFDBCI	0.856139	0.77334	D	0.651649430783787	0.76475	6.493485	0.607231825383903	0.75462	6.315104	0.999999999939606	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	7.353000	0.78667	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.934	0.70586	312	0.87382	FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1272.33	35	chr10	70123442	.	T	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=743;ExcessHet=0;FS=1.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.914;SOR=0.523	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1286,0,1466	18	0	1	0
chr10	70301500	70301500	C	T	exonic	LRRC20	.	nonsynonymous SNV	LRRC20:NM_001278213:exon4:c.G259A:p.V87M,LRRC20:NM_001278214:exon4:c.G202A:p.V68M,LRRC20:NM_018205:exon4:c.G241A:p.V81M,LRRC20:NM_018239:exon4:c.G259A:p.V87M,LRRC20:NM_001278211:exon5:c.G409A:p.V137M,LRRC20:NM_001278212:exon5:c.G409A:p.V137M,LRRC20:NM_207119:exon5:c.G409A:p.V137M	.	427	1089	6	0	0	6	0.00274725	.	.	.	2683839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0171255614551	.	.	4.132e-05	9.63e-05	0.0002	0.0001	0	0	0	6.122e-05	3.88e-05	6	154602	rs749433858	3.558e-05	3.557e-05	4.084e-05	3.026e-05	0.0002	2.763e-05	2.502e-05	2.986e-05	1.942e-05	8.961e-05	8.948e-05	0	5.038e-05	1.878e-05	0.0002	3.058e-05	4.969e-05	4.639e-05	4.598e-05	4.596e-05	2.569e-05	6.723e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	4.824e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	0.122	0.53172	T	0.011	0.65728	D	1.0	0.90584	D	0.995	0.83170	D	0.000208	0.47681	D	0.135865	0.99946	0.47157	D	1.02	0.25474	L	0.45	0.56446	T	-0.89	0.39314	N	0.355	0.40465	-0.8099	0.54556	T	0.232	0.59818	T	10	0.21212226	0.37662	T	0.017126	0.38702	T	0.063	0.18251	0.413	0.45052	0.607763699848	0.60461	0.3281543043309931	0.32728	0.66949931502	0.59350	0.608825147152	0.54149	T	0.024158	0.33501	T	-0.177053	0.24176	T	-0.266399	0.48183	T	0.405915558338165	0.29165	T	0.854814	0.56210	D	0.10351973	0.24467	0.11043776	0.26629	0.10351973	0.24467	0.11043776	0.26629	-5.823	0.48999	T	.	.	0.344	0.56145	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.454617	0.48119	22.6	0.9905643343919206	0.51367	0.83505	0.42618	D	AEFDGBI	0.400191	0.47517	N	0.227794912868134	0.52550	3.428473	0.348272554912369	0.58402	4.010642	0.999999747279061	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	2.720000	0.46921	4.746000	0.44633	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	15.001	0.71127	486	0.77016	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	898.33	38	chr10	70301500	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.482;SOR=0.782	GT:AD:DP:GQ:PL	0/1:48,39:87:99:912,0,1242	18	0	1	0
chr10	70674918	70674918	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon2:c.C445T:p.R149W,ADAMTS14:NM_139155:exon2:c.C445T:p.R149W	.	431	1087	4	0	0	4	0.00183655	.	.	.	2813247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.00572245925553	0.0005	0.000399361	0.0003	0.0002	0	0	0	0.0005	0	0.0002	0.000304	47	154602	rs140711390	0.0006	0.0006	0.0005	0.0006	0.0006	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	5.038e-05	0	0.0005	0.0006	0.0005	0.0006	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0002	0	0	0	0	0	0.0034	0.0005	0.0005	0	0.195	0.20988	T	0.23	0.25135	T	0.005	0.12996	B	0.009	0.14300	B	0.698134	0.06186	N	1.168970	0.977922	0.25282	N	0.78	0.19475	N	3.31	0.06291	T	-1.64	0.40660	N	0.177	0.19055	-0.9541	0.40256	T	0.020	0.08546	T	10	0.019544393	0.00438	T	0.005722	0.14832	T	0.047	0.12962	.	.	0.424073947737	0.42026	0.4599688008951613	0.45914	0.177200247243	0.19938	0.191694825888	0.00256	T	0.060574	0.31422	T	-0.56675	0.00231	T	-0.68196	0.06864	T	0.00885453516623175	0.00110	T	0.367963	0.08605	T	0.14831461	0.33865	0.14957382	0.35310	0.14831461	0.33864	0.14957382	0.35309	-4.464	0.30770	T	.	.	0.067	0.02861	B	.;.	.;.	2.342885	0.30025	18.31	0.97447054117971577	0.34007	0.45009	0.27444	N	AEFDGBCI	0.491014	0.52825	N	-0.637704505091094	0.17820	0.9202293	-0.541199774793874	0.21040	1.136343	0.999999077669922	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.99	3.06	0.34374	1.724000	0.37685	0.570000	0.19597	-0.242000	0.07441	0.012000	0.18695	0.059000	0.21998	0.891000	0.42908	0.0:0.8124:0.0:0.1876	9.311	0.37069	306	0.87689	.;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1481.33	122	chr10	70674918	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.233;DP=765;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.1;SOR=0.513	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1388	18	0	1	0
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C,ADAMTS14:NM_139155:exon6:c.C988T:p.R330C	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.000000	0.004076	0.000000	0.000000	0.000000	0.009259	0.007576	0.02632	1567.33	36	chr10	70730135	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=737;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.777;SOR=0.943	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	18	0	1	0
chr10	70730157	70730157	G	A	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.G1010A:p.R337H,ADAMTS14:NM_139155:exon6:c.G1010A:p.R337H	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.012873821663	7.7e-05	.	6.62e-05	0	0	0.0006	0	3.012e-05	0	6.08e-05	6.47e-05	10	154602	rs369181052	4.245e-05	4.446e-05	4.633e-05	3.853e-05	0.0003	3.379e-05	3.067e-05	0.0002	0.0001	2.987e-05	0	0	0.0003	7.652e-05	0.0002	2.968e-05	8.282e-05	6.958e-05	1.313e-05	1.312e-05	0	2.685e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.082	0.33418	T	0.111	0.37449	T	0.403	0.34918	B	0.141	0.33616	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.28	0.32218	L	-0.06	0.63568	T	-3.68	0.70314	D	0.831	0.83269	-0.7435	0.58272	T	0.204	0.56155	T	10	0.6179853	0.67815	D	0.012874	0.31816	T	0.400	0.71401	.	.	0.789634371715	0.78768	0.5807996029976017	0.58008	0.432887186333	0.43457	0.779604017735	0.78867	T	0.157478	0.50009	T	-0.100927	0.36271	T	-0.00690525	0.69887	D	0.277995695012923	0.24087	T	0.955204	0.82942	D	0.38551342	0.59712	0.27138206	0.53039	0.38551342	0.59712	0.27138206	0.53038	-8.329	0.63291	D	.	.	0.096	0.15430	B	.;.	.;.	4.993079	0.82791	27.9	0.99914648709577125	0.98309	0.98867	0.87911	D	AEFDGBI	0.924523	0.90269	D	0.381938428994944	0.60444	4.233313	0.481860335205949	0.66789	4.997974	0.999999999999886	0.74766	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	9.923000	0.98785	8.451000	0.77220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.816	0.88545	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	36	chr10	70730157	.	G	A	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.858;DP=742;ExcessHet=0;FS=3.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.642;SOR=1.166	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	18	0	1	0
chr10	70749921	70749921	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon16:c.C2363T:p.A788V,ADAMTS14:NM_139155:exon16:c.C2372T:p.A791V	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	0.013778	0.0077	0.0003	0.0014	0.0003	0	9.026e-05	0.0033	0.0548	0.0067334	1041	154602	rs375472897	0.0035	0.0035	0.0020	0.0050	0.0548	0.0034	0.0034	0.0535	0.0529	0.0003	0.0006	0	7.557e-05	0	0.0036	7.734e-05	0.0041	0.0548	0.0018	0.0018	0.0008	0.0028	0.0539	0.0016	0.0015	0.0485	0.0464	4.814e-05	0	0.0002	0	0.0004	9.422e-05	0.0034	4.411e-05	0.0005	0.0539	0.297	0.14645	T	0.292	0.20877	T	0.004	0.12183	B	0.004	0.10090	B	0.161366	0.17653	N	0.576977	1	0.08975	N	1.1	0.28011	L	0.67	0.52187	T	-0.86	0.23372	N	0.2	0.22098	-1.0447	0.15913	T	0.032	0.13592	T	10	0.0022140145	0.00032	T	.	.	.	0.141	0.37795	.	.	0.269111216191	0.26524	0.3587299531264283	0.35786	0.171333639152	0.19303	0.239934742451	0.02784	T	0.012948	0.11287	T	-0.661024	0.00062	T	-0.681312	0.06903	T	0.00471642684655219	0.00050	T	0.0751925	0.00551	T	0.029759804	0.02524	0.028087288	0.01013	0.029759804	0.02524	0.028087288	0.01013	-5.205	0.38992	T	.	.	0.073	0.04847	B	.;.	.;.	0.232072	0.06131	2.578	0.95440167658866371	0.26945	0.23449	0.22079	N	AEFDBCI	0.170846	0.29777	N	-1.30405548479824	0.03628	0.1624193	-1.30949037245449	0.04307	0.202852	0.953472086851655	0.28075	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-4.13	0.03639	0.300000	0.18911	-7.149000	0.01220	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2227:0.3855:0.1102:0.2816	1.101	0.01579	352	0.85375	.;ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007092	0.000000	0.000000	0.008824	0.000000	0.008621	0.000000	0.023077	0.02632	728.33	41	chr10	70749921	.	C	T	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.819;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr10	71293859	71293859	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon12:c.G2068A:p.A690T,UNC5B:NM_170744:exon13:c.G2101A:p.A701T	.	.	.	.	.	.	.	.	.	.	.	3632858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.0251754115069	.	0.000199681	0.0004	0.0001	0.0016	0	0	0	0	0.0013	0.0002458	38	154602	rs551142023	0.0001	0.0001	9.153e-05	0.0001	0.0012	0.0001	9.868e-05	0.0010	0.0010	5.98e-05	0.0010	0	0.0002	2.037e-05	0	2.699e-06	0.0001	0.0012	8.543e-05	8.532e-05	7.715e-05	9.408e-05	0.0005	4.958e-05	3.963e-05	0.0002	0.0002	9.638e-05	0	0.0005	0	0	0	0	0	0	0.0004	0.01	0.57480	D	0.006	0.70582	D	0.063	0.25941	B	0.006	0.17295	B	0.000245	0.46924	D	0.140372	1	0.81001	D	2.81	0.81869	M	0.61	0.54540	T	-2.86	0.60188	D	0.859	0.85554	-0.7319	0.58867	T	0.194	0.54696	T	10	0.6594562	0.70067	D	0.025175	0.48158	D	0.360	0.68052	0.885	0.97081	0.746007415816	0.74372	0.6578995074183599	0.65726	0.144424200517	0.16313	0.521995782852	0.41907	T	0.586171	0.86524	D	-0.256353	0.13331	T	-0.186562	0.55911	T	0.26412600138351	0.23495	T	0.79922	0.44465	T	0.2187747	0.44393	0.21602081	0.46214	0.2187747	0.44393	0.21602081	0.46213	-8.419	0.64164	D	.	.	0.495	0.64357	A	.;.	.;.	4.251320	0.64538	24.7	0.99854157828623635	0.93279	0.94596	0.61682	D	AEFDBCI	0.900502	0.84610	D	0.250263744470335	0.53650	3.533143	0.372458712771244	0.59871	4.168898	0.999999999999983	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.76	4.76	0.60189	10.003000	0.99689	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.674000	0.33367	0.0:0.0:1.0:0.0	17.780	0.88433	895	0.25842	UPA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1333.33	33	chr10	71293859	.	G	A	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=710;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=0.033;SOR=0.751	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	18	0	1	0
chr10	71295850	71295850	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon13:c.G2182A:p.V728M,UNC5B:NM_170744:exon14:c.G2215A:p.V739M	.	394	1107	21	0	0	21	0.00939597	.	.	.	2813257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0096062909873	0.0062	0.00319489	0.0044	0.0007	0.0050	0.0001	0.0021	0.0060	0.0067	0.0030	0.0045924	710	154602	rs61749231	0.0062	0.0062	0.0062	0.0063	0.0104	0.0061	0.0061	0.0081	0.0073	0.0010	0.0061	0.0054	2.519e-05	0.0016	0.0104	0.0071	0.0057	0.0033	0.0049	0.0049	0.0048	0.0051	0.0100	0.0046	0.0045	0.0087	0.0082	0.0013	0.0110	0.0100	0.0040	0.0002	0.0021	0.0136	0.0066	0.0090	0.0046	0.044	0.41915	D	0.083	0.41405	T	0.891	0.52202	P	0.103	0.37221	B	0.000041	0.55875	D	0.075690	0.988799	0.40829	D	0.55	0.14455	N	0.85	0.49068	T	0.07	0.06488	N	0.317	0.35727	-1.0663	0.10246	T	0.048	0.20434	T	10	0.01018104	0.00228	T	0.009606	0.25130	T	0.089	0.25827	.	.	0.571483254199	0.56815	0.324772179579908	0.32390	0.194266033639	0.21761	0.385050028563	0.22971	T	0.091907	0.38894	T	-0.496787	0.00596	T	-0.480404	0.24405	T	0.0145942026691059	0.00300	T	0.925307	0.72522	D	0.05428148	0.10392	0.06900502	0.14484	0.05428148	0.10391	0.06900502	0.14484	-3.936	0.25877	T	.	.	0.176	0.38516	B	.;.	.;.	3.311050	0.45497	22.1	0.99483901873544056	0.67069	0.82049	0.41338	D	AEFDBI	0.228385	0.35206	N	0.0802413269620108	0.45541	2.808962	0.14793409110222	0.47032	2.939694	0.999924853282987	0.46280	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	4.7	3.76	0.42368	1.686000	0.37287	6.297000	0.55407	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.757000	0.36037	0.0:0.2014:0.6719:0.1267	9.707	0.39386	900	0.24599	UPA domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.010870	0.052632	0.000000	0.043103	0.000000	0.000000	0.02632	1126.33	33	chr10	71295850	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.493;DP=717;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.285;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	71344242	71344242	A	G	exonic	SLC29A3	.	nonsynonymous SNV	SLC29A3:NM_001174098:exon3:c.A334G:p.T112A,SLC29A3:NM_001363518:exon3:c.A100G:p.T34A,SLC29A3:NM_018344:exon3:c.A334G:p.T112A	Histiocytosis-lymphadenopathy plus syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	724048	H_syndrome	MONDO:MONDO:0011273,MedGen:C1864445,OMIM:602782,Orphanet:168569	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.217	0.027431685721	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005821	90	154602	rs374212391	0.0003	0.0003	0.0001	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	2.236e-05	0	0	0	0.0007	6.295e-06	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	2.405e-05	0	0	0	0.0002	0	0	0	0.0005	0.0052	0.225	0.18626	T	.	.	.	0.113	0.26349	B	0.082	0.29098	B	0.000006	0.62929	D	0.108195	0.999936	0.51612	D	1.65	0.42232	L	0.3	0.58755	T	-1.51	0.36787	N	0.739	0.73916	-0.8451	0.52304	T	0.134	0.44720	T	9	0.009996265	0.00224	T	0.027432	0.50240	D	0.217	0.51112	.	.	0.75022782409	0.74797	0.48163511369214573	0.48083	0.075613997017	0.08487	0.512372612953	0.40554	T	0.034295	0.23266	T	-0.213021	0.18955	T	-0.0780886	0.65044	T	0.0533908166309095	0.06086	T	0.728927	0.37065	T	0.06247559	0.13051	0.06758331	0.14001	0.06960436	0.15262	0.0659479	0.13437	-6.402	0.49525	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	3.124431	0.42199	21.5	0.97048663603718566	0.32142	0.95123	0.63522	D	AEFDBCI	0.665268	0.63414	D	-0.278623791612106	0.29976	1.667153	-0.0890588334334357	0.35841	2.078408	0.999999975544119	0.74766	0.714207	0.82060	0	0.633656	0.55848	0	0.648423	0.49468	0	0.655142	0.61905	0	.	.	5.89	4.74	0.59717	5.349000	0.65779	6.812000	0.56651	-0.819000	0.02980	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.8631:0.0:0.0:0.1369	11.192	0.47919	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1039.33	139	chr10	71344242	.	A	G	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1575;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=0.912;SOR=0.778	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1306	18	0	1	0
chr10	71617355	71617355	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon11:c.G1096A:p.A366T,CDH23:NM_001171931:exon11:c.G1096A:p.A366T,CDH23:NM_001171932:exon11:c.G1096A:p.A366T,CDH23:NM_022124:exon11:c.G1096A:p.A366T,CDH23:NM_052836:exon11:c.G1096A:p.A366T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1504	18	0	0	18	0.00594845	.	.	.	53282	Retinal_dystrophy|Usher_syndrome_type_1D|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Nonsyndromic_genetic_hearing_loss|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.198	.	0.0081	0.00199681	0.0070	0.0027	0.0044	0.0001	0.0009	0.0110	0.0067	0.0012	0.0067658	1046	154602	rs143282422	0.0095	0.0095	0.0096	0.0094	0.0102	0.0094	0.0093	0.0100	0.0100	0.0017	0.0052	0.0535	0	0.0013	0.0064	0.0102	0.0104	0.0021	0.0065	0.0065	0.0072	0.0058	0.0091	0.0062	0.0061	0.0085	0.0083	0.0020	0.0121	0.0054	0.0452	0.0004	0.0010	0.0034	0.0091	0.0076	0.0019	0.135	0.29288	T	0.012	0.92824	D	1.0	0.90584	D	0.993	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	0.415	0.12483	N	1.01	0.41058	T	-0.98	0.29525	N	0.789	0.81261	-0.8505	0.51933	T	0.176	0.52068	T	10	0.008493215	0.00192	T	.	.	.	0.198	0.48105	.	.	0.758690719046	0.75649	0.40012521450796107	0.39927	.	.	0.814825892448	0.84233	D	0.00253	0.44911	T	-0.38339	0.02966	T	-0.313102	0.43325	T	0.0318177186075019	0.02276	T	0.948305	0.80271	D	0.2967483	0.52611	0.3103192	0.57043	0.24499422	0.47454	0.22478768	0.47400	-11.389	0.84152	D	.	.	0.47	0.70478	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.917092	0.57157	23.8	0.99939848356716388	0.99767	0.99392	0.95437	D	AEFBI	0.953945	0.97066	D	0.54891561270629	0.70015	5.440025	0.610823582196733	0.75723	6.361509	0.999999999999997	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	9.239000	0.94505	11.594000	0.93426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.833	0.92116	945	0.12563	Cadherin-like;.;.;.;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.006793	0.005848	0.050000	0.017241	0.009146	0.003788	0.02632	1670.33	33	chr10	71617355	.	G	A	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=1052;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.187;SOR=0.74	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr10	71646514	71646514	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon13:c.C1346T:p.T449I,CDH23:NM_001171931:exon13:c.C1346T:p.T449I,CDH23:NM_022124:exon13:c.C1346T:p.T449I,CDH23:NM_052836:exon13:c.C1346T:p.T449I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1427289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0116265132107	.	.	8.28e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs200997507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.567e-06	1.312e-05	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.173	0.22573	T	0.136	0.49942	T	0.042	0.27759	B	0.056	0.26147	B	0.244918	0.15632	N	0.634983	0.990644	0.27809	N	1.9	0.50570	L	0.54	0.54911	T	-2.49	0.54217	N	0.509	0.58287	-0.8780	0.49919	T	0.177	0.52193	T	10	0.25866407	0.43295	T	0.011627	0.29446	T	0.109	0.30843	0.503	0.59615	0.840962336824	0.83944	0.2884073806905805	0.28753	.	.	0.380684345961	0.22353	T	0.029363	0.65195	T	-0.0831732	0.39196	T	-0.357249	0.38371	T	0.941009640693665	0.61385	D	0.868913	0.66280	D	0.057527836	0.11460	0.1023939	0.24539	0.057527836	0.11459	0.1023939	0.24538	-4.868	0.39406	T	.	.	0.100	0.29615	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.425708	0.31199	18.67	0.99788374421115478	0.87396	0.84299	0.43381	D	AEFDBI	0.393326	0.47102	N	0.0166064540191729	0.42610	2.57067	0.124530154576591	0.45808	2.837368	0.999998455831988	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.69	4.76	0.60189	3.699000	0.54511	2.724000	0.34335	0.599000	0.40250	0.999000	0.42656	0.070000	0.22201	0.866000	0.41154	0.2758:0.508:0.2162:0.0	9.299	0.36992	923	0.18507	Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	40	chr10	71646514	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=741;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.654;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr10	71675143	71675143	A	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.A1481T:p.E494V,CDH23:NM_001171931:exon14:c.A1481T:p.E494V,CDH23:NM_022124:exon14:c.A1481T:p.E494V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00786485937882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.20877	T	0.005	0.12996	B	0.014	0.16862	B	0.012696	0.29088	N	0.330702	0.982686	0.39921	D	0.515	0.13537	N	.	.	.	.	.	.	0.225	0.33469	-0.8492	0.52024	T	0.209	0.56893	T	9	0.19516814	0.35357	T	0.007865	0.20851	T	0.037	0.09474	0.421	0.46365	0.796781694574	0.79489	0.44617100931189085	0.44535	.	.	0.324605822563	0.14119	T	0.023921	0.54598	T	-0.104172	0.35733	T	-0.387413	0.34856	T	0.728453040122986	0.42130	D	0.838616	0.51177	T	0.19576438	0.41377	0.24003726	0.49368	0.19576438	0.41377	0.24003726	0.49367	-7.981	0.60941	D	.	.	0.114	0.23500	B	.;.;.;.;.;.	.;.;.;.;.;.	3.253245	0.44463	21.9	0.98503620246316337	0.42252	0.87894	0.47594	D	AEFDBI	0.387484	0.46745	N	-0.00134176017179786	0.41793	2.50635	0.175836241482385	0.48527	3.067406	0.999998823710472	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	4.894000	0.62897	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	1.0:0.0:0.0:0.0	16.002	0.80101	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2816.33	33	chr10	71675143	.	A	T	2816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.856;DP=879;ExcessHet=0;FS=3.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.939;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800:.	18	0	1	0
chr10	71725421	71725421	G	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon29:c.G3480T:p.M1160I,CDH23:NM_022124:exon29:c.G3480T:p.M1160I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1497	24	0	1	25	0.00795229	.	.	YES	55084	not_specified|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	.	8e-05	0.00219649	0.0022	0.0001	0.0003	0.0002	0	0.0002	0.0011	0.0148	0.0018176	281	154602	rs111033519	0.0010	0.0010	0.0006	0.0015	0.0142	0.0010	0.0010	0.0136	0.0133	2.987e-05	2.236e-05	0.0003	2.519e-05	0	0.0029	0.0002	0.0011	0.0142	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	2.406e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0133	.	.	.	0.514	0.26306	T	0.004	0.12183	B	0.013	0.16460	B	0.001150	0.40056	N	0.208576	1	0.81001	D	-0.67	0.02046	N	.	.	.	.	.	.	0.509	0.54059	-1.0268	0.21494	T	0.112	0.40052	T	9	0.007078856	0.00161	T	.	.	.	0.054	0.15330	0.475	0.55182	0.779814296898	0.77778	0.2157758739904076	0.21493	.	.	0.341554939747	0.16671	T	0.002114	0.37696	T	-0.38314	0.02976	T	-0.310807	0.43571	T	0.0534730017488531	0.06100	T	0.888711	0.61924	D	0.5319244	0.68940	0.5611373	0.74607	0.53026617	0.68846	0.5982625	0.76669	-1.621	0.02031	T	.	.	0.282	0.51489	B	.;.;.;.	.;.;.;.	3.312176	0.45517	22.1	0.9708094472198836	0.32281	0.92845	0.56686	D	AEFDBI	0.550311	0.56283	D	-0.240729420628005	0.31474	1.765275	-0.0102873979785231	0.39250	2.324314	0.999999440875665	0.74766	0.403107	0.06075	0	0.491513	0.07743	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	2.078000	0.41191	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.639	0.91347	826	0.39940	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.008621	0.003049	0.011364	0.02632	1569.33	38	chr10	71725421	.	G	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=827;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.282;SOR=0.625	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1234	18	0	1	0
chr10	71739689	71739689	A	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_022124:exon34:c.A4405G:p.I1469V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	1	1510	10	1	0	12	0.00395778	.	.	YES	174977	not_specified|Pituitary_adenoma_5,_multiple_types|Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|Retinal_dystrophy	MedGen:CN169374|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	0.035690942362	.	0.000599042	0.0004	0	0.0002	0	0	0.0003	0.0012	0.0016	0.0003169	49	154602	rs200635365	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0019	0.0015	0	0.0001	0	0	1.875e-05	0.0029	0.0001	0.0005	0.0011	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0001	0.0013	0.0010	0	0	6.539e-05	0	0	0	0	0.0003	0	0.0023	.	.	.	0.027	0.55341	D	0.128	0.27003	B	0.176	0.35644	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.885	0.21608	L	.	.	.	.	.	.	0.5	0.53269	-0.7132	0.59795	T	0.235	0.60160	T	9	0.019304395	0.00429	T	0.035691	0.56507	D	0.144	0.38394	.	.	0.850017294419	0.84857	0.2245403800194078	0.22369	.	.	0.560945689678	0.47401	T	0.009137	0.45127	T	-0.30903	0.07834	T	-0.262228	0.48601	T	0.0885264351963997	0.11041	T	0.788921	0.42853	T	0.40112287	0.60811	0.4002237	0.64565	0.40112287	0.60811	0.4002237	0.64565	-3.732	0.19791	T	.	.	0.118	0.24054	B	.;.	.;.	2.759777	0.36197	20.2	0.99508999767278417	0.68499	0.97613	0.75906	D	AEFDBI	0.826489	0.74597	D	0.126667730215805	0.47710	2.992875	0.275492533436706	0.54113	3.577243	0.999999999998536	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	6.182000	0.71929	9.290000	0.79784	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.648000	0.32638	1.0:0.0:0.0:0.0	15.900	0.79154	827	0.39843	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1350.33	35	chr10	71739689	.	A	G	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.932;DP=756;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.503;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1275	18	0	1	0
chr10	71751847	71751847	A	G	exonic	VSIR	.	nonsynonymous SNV	VSIR:NM_022153:exon6:c.T719C:p.I240T	.	412	1085	24	1	0	26	0.0118397	.	.	.	3409321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0002	0.00239617	0.0014	0	0.0014	0	0	0.0004	0.0039	0.0113	0.0014359	222	154602	rs151170391	0.0008	0.0009	0.0006	0.0010	0.0097	0.0008	0.0008	0.0091	0.0089	3.183e-05	0.0006	0.0034	0	0	0.0051	0.0002	0.0011	0.0097	0.0006	0.0006	0.0004	0.0007	0.0108	0.0005	0.0004	0.0084	0.0076	7.223e-05	0	0.0004	0.0023	0	0	0.0034	0.0002	0.0009	0.0108	0.07	0.35349	T	0.22	0.25907	T	0.808	0.45299	P	0.422	0.45143	B	0.000418	0.44736	D	0.257076	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.2	0.49519	N	0.679	0.68603	-0.8592	0.51320	T	0.168	0.50697	T	10	0.010266542	0.00229	T	.	.	.	0.158	0.41098	.	.	0.396645960531	0.39282	0.11599831200167962	0.11527	0.531866609832	0.50666	.	.	.	0.092873	0.39095	T	-0.349859	0.04736	T	-0.267363	0.48085	T	0.031107798496653	0.02162	T	0.845215	0.52386	T	0.09921461	0.23412	0.11632411	0.28083	0.09921461	0.23412	0.11632411	0.28082	-5.64	0.43156	T	.	.	0.275	0.50862	B	.	.	3.914739	0.57112	23.8	0.99007520900926638	0.50293	0.96049	0.67302	D	AEFBCI	0.768422	0.70399	D	0.31749123875265	0.57046	3.870607	0.391570939865906	0.61043	4.299221	0.99999997111564	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.685000	0.67865	11.198000	0.88920	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.173	0.81642	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2775.33	34	chr10	71751847	.	A	G	2775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=830;ExcessHet=0;FS=1.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.17;SOR=0.795	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1273	18	0	1	0
chr10	71814971	71814971	A	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171936:exon4:c.A344C:p.D115A,CDH23:NM_001171935:exon5:c.A449C:p.D150A,CDH23:NM_001171934:exon22:c.A2933C:p.D978A,CDH23:NM_001171933:exon23:c.A3038C:p.D1013A,CDH23:NM_022124:exon68:c.A9758C:p.D3253A	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1488	34	0	0	34	0.0112957	.	.	.	55244	Combined_PSAP_deficiency|Usher_syndrome_type_1D|Metachromatic_leukodystrophy|not_specified|Galactosylceramide_beta-galactosidase_deficiency|Atypical_Gaucher_Disease|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:CN169374|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:CN239218|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0027	0.0071885	0.0034	0.0158	0.0019	0	0	0.0008	0.0068	0.0117	0.0027943	432	154602	rs140463385	0.0015	0.0015	0.0012	0.0017	0.0141	0.0014	0.0014	0.0130	0.0126	0.0141	0.0017	0.0046	5.041e-05	0	0.0076	0.0003	0.0029	0.0102	0.0046	0.0046	0.0045	0.0046	0.0134	0.0043	0.0042	0.0125	0.0121	0.0134	0	0.0029	0.0035	0.0004	0	0.0068	0.0003	0.0038	0.0106	0.016	0.51853	D	0.007	0.69154	D	0.03	0.20002	B	0.022	0.19653	B	0.005483	0.32753	N	0.282649	0.813289	0.35703	D	0.805	0.20218	L	-1.27	0.79277	T	-1.14	0.29323	N	0.146	0.16308	-0.6071	0.64523	T	0.099	0.36907	T	10	0.008310497	0.00189	T	.	.	.	0.269	0.58381	.	.	0.882921449578	0.88177	0.40577768708480505	0.40493	0.179719734913	0.20215	0.346304118633	0.17376	T	0.024742	0.58764	T	-0.410882	0.01961	T	-0.351304	0.39055	T	0.0259886223339784	0.01405	T	0.823018	0.50622	T	0.13823578	0.31977	0.19175486	0.42652	0.16637209	0.36968	0.19290687	0.42829	-3.983	0.28678	T	.	.	0.098	0.18580	B	.;.;.;.	.;.;.;.	3.925396	0.57339	23.8	0.9891917616852629	0.48527	0.94266	0.60621	D	AEFDGBHCI	0.710844	0.66447	D	0.0308156560726651	0.43262	2.622502	0.194889263447921	0.49566	3.158281	0.99999999998484	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.440796	0.06475	0	0.711	0.71501	0	.	.	5.28	4.15	0.47978	6.294000	0.72722	8.697000	0.78095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9239:0.0:0.0761:0.0	10.470	0.43817	782	0.47442	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008577	0.010204	0.009511	0.014706	0.000000	0.000000	0.006135	0.015152	0.02632	1305.33	34	chr10	71814971	.	A	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=700;ExcessHet=0;FS=5.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.098;SOR=1.549	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1324	18	0	1	0
chr10	72062897	72062897	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon11:c.G1138A:p.V380M,SPOCK2:NM_014767:exon12:c.G1138A:p.V380M	.	351	1164	7	0	0	7	0.00299786	.	.	.	2344658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0238238379987	.	0.000199681	0.0002	0	0.0002	0	0.0004	0.0003	0	0	0.0001164	18	154602	rs200859576	8.021e-05	8.619e-05	8.521e-05	7.516e-05	0.0040	6.807e-05	6.335e-05	0.0027	0.0023	3.009e-05	9.268e-05	0	2.54e-05	4.196e-05	0.0040	6.506e-05	6.673e-05	0.0001	0.0001	0.0001	5.143e-05	0.0002	0.0004	6.514e-05	5.325e-05	7.35e-05	5.092e-05	0	0	6.54e-05	0	0	0.0002	0	0.0001	0.0009	0.0004	0.15	0.24661	T	0.257	0.23298	T	0.27	0.31762	B	0.015	0.17295	B	0.000067	0.52346	D	0.127574	0.986777	0.40484	D	0.6	0.15550	N	0.56	0.54540	T	0.15	0.05310	N	0.066	0.05929	-1.0449	0.15854	T	0.089	0.34325	T	10	0.044466943	0.03407	T	0.023824	0.46806	T	0.030	0.07022	.	.	0.179529687257	0.17594	0.4521624283599802	0.45134	0.282254302918	0.30686	0.63472622633	0.57815	T	0.084519	0.37297	T	-0.415422	0.01831	T	-0.574823	0.15009	T	0.0437120956634453	0.04368	T	0.69823	0.33404	T	0.06998419	0.15376	0.086909845	0.20166	0.06998419	0.15376	0.086909845	0.20166	-5.866	0.45144	T	.	.	0.09	0.14523	B	.;.;.	.;.;.	3.207953	0.43659	21.8	0.98861685540705158	0.47476	0.82684	0.41878	D	AEFDBI	0.142132	0.26449	N	-0.183827528970854	0.33807	1.922293	-0.0324322292921824	0.38260	2.251528	0.999925761392299	0.46280	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	5.31	4.4	0.52402	1.463000	0.34887	4.928000	0.46104	0.599000	0.40250	0.691000	0.28541	1.000000	0.68203	0.867000	0.41218	0.0:0.7884:0.1366:0.075	10.429	0.43581	846	0.36215	Thyroglobulin type-1;Thyroglobulin type-1;Thyroglobulin type-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1325.33	36	chr10	72062897	.	C	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=813;ExcessHet=0;FS=3.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=1.63;SOR=0.894	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1527	18	0	1	0
chr10	72063097	72063097	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon10:c.G1057A:p.G353S,SPOCK2:NM_014767:exon11:c.G1057A:p.G353S	.	409	1102	11	0	0	11	0.00496614	.	.	.	701427	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.525	.	0.0027	0.0061901	0.0051	0.0011	0.0084	0.0275	0	0.0061	0.0101	0.0029	0.0025485	394	154602	rs2306322	0.0044	0.0043	0.0043	0.0044	0.0229	0.0043	0.0042	0.0216	0.0210	0.0025	0.0028	0.0047	0.0229	0.0003	0.0079	0.0040	0.0062	0.0032	0.0035	0.0035	0.0036	0.0033	0.0158	0.0032	0.0031	0.0131	0.0120	0.0023	0	0.0040	0.0032	0.0158	9.413e-05	0.0034	0.0035	0.0052	0.0044	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.959	0.70163	D	0.000005	0.62929	D	0.105066	1	0.81001	D	2.46	0.71463	M	-0.45	0.69896	T	-4.33	0.76740	D	0.744	0.75927	0.013	0.82518	D	0.421	0.76610	T	10	0.0058939457	0.00132	T	.	.	.	0.525	0.79886	.	.	0.638034261915	0.63505	0.8111794937839341	0.81072	0.957348511422	0.72876	0.591453313828	0.51699	T	0.296053	0.66870	T	-0.0298021	0.47447	T	0.195446	0.82877	D	0.014830433773313	0.00313	T	0.925008	0.72455	D	0.6479564	0.75254	0.7034858	0.82523	0.6479564	0.75256	0.7034858	0.82524	-9.766	0.72498	D	.	.	0.071	0.04198	B	.;.;.	.;.;.	5.044459	0.83977	28.2	0.99878954500517714	0.95572	0.97549	0.75477	D	AEFGBI	0.776794	0.70979	D	0.675202964745712	0.78006	6.78569	0.597829288230604	0.74785	6.196329	0.999999999999991	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	7.810000	0.84617	3.985000	0.40938	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.946000	0.48989	0.0:1.0:0.0:0.0	18.176	0.89693	846	0.36215	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1;Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1;Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008845	0.026882	0.006944	0.005848	0.000000	0.017544	0.000000	0.004000	0.02632	702.33	36	chr10	72063097	.	C	T	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=746;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.555;SOR=0.468	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1527	18	0	1	0
chr10	72097347	72097347	A	G	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001369099:exon9:c.T1007C:p.I336T,ASCC1:NM_001369108:exon9:c.T941C:p.I314T,ASCC1:NM_001369109:exon9:c.T941C:p.I314T,ASCC1:NM_001198798:exon10:c.T1061C:p.I354T,ASCC1:NM_001198800:exon10:c.T1061C:p.I354T,ASCC1:NM_001369093:exon10:c.T1061C:p.I354T,ASCC1:NM_001369094:exon10:c.T1061C:p.I354T,ASCC1:NM_001369095:exon10:c.T1061C:p.I354T,ASCC1:NM_001369105:exon11:c.T944C:p.I315T,ASCC1:NM_001369106:exon11:c.T944C:p.I315T,ASCC1:NM_001369107:exon11:c.T944C:p.I315T	Barrett esophagus/esophageal adenocarcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0287873514815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202023983	2.059e-06	2.052e-06	1.366e-06	2.757e-06	1.805e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	0.999325	0.46670	D	.	.	.	-0.28	0.67543	T	-2.6	0.55983	D	0.175	0.28616	-0.8228	0.53758	T	0.205	0.56335	T	9	0.16679084	0.31136	T	0.028787	0.51409	D	0.155	0.40530	.	.	0.562502419844	0.55913	.	.	.	.	.	.	.	.	.	.	-0.162852	0.26322	T	-0.471702	0.25332	T	0.341418562684086	0.26680	T	0.691931	0.30130	T	.	.	.	.	.	.	.	.	-6.445	0.49860	T	.	.	0.125	0.26294	B	.;.;.	.;.;.	3.791626	0.54583	23.5	0.94972399469194091	0.25902	0.77286	0.37983	D	AEFBCI	0.315507	0.42006	N	-0.17410869103723	0.34216	1.950285	-0.0590279087307668	0.37103	2.167919	0.999990591276477	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.47	4.31	0.50718	4.973000	0.63479	11.211000	0.89399	0.665000	0.62972	0.999000	0.42656	0.997000	0.33255	0.994000	0.71098	0.8518:0.0:0.0:0.1482	10.211	0.42317	849	0.35778	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	790.33	35	chr10	72097347	.	A	G	790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=697;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.141;SOR=0.34	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1298	18	0	1	0
chr10	72196816	72196816	A	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon5:c.T484A:p.S162T,ASCC1:NM_001198800:exon5:c.T484A:p.S162T,ASCC1:NM_001369085:exon5:c.T550A:p.S184T,ASCC1:NM_001369086:exon5:c.T550A:p.S184T,ASCC1:NM_001369087:exon5:c.T484A:p.S162T,ASCC1:NM_001369088:exon5:c.T484A:p.S162T,ASCC1:NM_001369089:exon5:c.T484A:p.S162T,ASCC1:NM_001369090:exon5:c.T484A:p.S162T,ASCC1:NM_001369091:exon5:c.T484A:p.S162T,ASCC1:NM_001369092:exon5:c.T484A:p.S162T,ASCC1:NM_001369093:exon5:c.T484A:p.S162T,ASCC1:NM_001369094:exon5:c.T484A:p.S162T,ASCC1:NM_001369095:exon5:c.T484A:p.S162T,ASCC1:NM_001369096:exon5:c.T484A:p.S162T,ASCC1:NM_001369097:exon5:c.T484A:p.S162T,ASCC1:NM_001369098:exon5:c.T484A:p.S162T,ASCC1:NM_001369099:exon5:c.T550A:p.S184T,ASCC1:NM_001369100:exon5:c.T484A:p.S162T,ASCC1:NM_001369103:exon5:c.T484A:p.S162T,ASCC1:NM_001369104:exon5:c.T484A:p.S162T,ASCC1:NM_001369108:exon5:c.T484A:p.S162T,ASCC1:NM_001369109:exon5:c.T484A:p.S162T,ASCC1:NM_001369110:exon5:c.T484A:p.S162T,ASCC1:NM_001369111:exon5:c.T484A:p.S162T,ASCC1:NM_001369112:exon5:c.T484A:p.S162T,ASCC1:NM_001198799:exon6:c.T568A:p.S190T,ASCC1:NM_001369101:exon6:c.T367A:p.S123T,ASCC1:NM_001369102:exon6:c.T367A:p.S123T,ASCC1:NM_001369105:exon6:c.T367A:p.S123T,ASCC1:NM_001369106:exon6:c.T367A:p.S123T,ASCC1:NM_001369107:exon6:c.T367A:p.S123T	Barrett esophagus/esophageal adenocarcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0192063825535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.91255	T	0.353	0.92824	T	0.996	0.68779	D	0.965	0.71173	D	0.000004	0.62929	D	0.109027	0.999999	0.58761	D	2.91	0.84121	M	-0.13	0.64818	T	-2.03	0.47514	N	0.555	0.58629	-0.3277	0.74200	T	0.424	0.76790	T	10	0.43115038	0.57498	T	0.019206	0.41510	T	0.253	0.56294	0.289	0.24921	0.775281117856	0.77321	0.6428091940824322	0.64215	0.439809500087	0.43999	0.49861818552	0.38635	T	0.007474	0.21248	T	0.0838665	0.62491	D	-0.117308	0.62022	T	0.919638752937317	0.57843	D	0.886911	0.61653	D	0.39339018	0.60272	0.39103135	0.63883	0.39339018	0.60272	0.39103135	0.63883	-5.687	0.48983	T	0.3399146051307289	0.43769	0.169	0.37121	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.825180	0.55259	23.6	0.99302904287476113	0.58686	0.99236	0.93238	D	AEFDBI	0.902180	0.84975	D	0.697837695616311	0.79491	7.08872	0.688004120202229	0.81467	7.533573	0.999999840346578	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	8.582000	0.90577	8.932000	0.78411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	16.331	0.82842	661	0.61838	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1322.33	43	chr10	72196816	.	A	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.312;DP=773;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.896;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	18	0	1	0
chr10	72213285	72213285	C	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon2:c.G14A:p.R5H,ASCC1:NM_001198799:exon2:c.G14A:p.R5H,ASCC1:NM_001198800:exon2:c.G14A:p.R5H,ASCC1:NM_001369085:exon2:c.G80A:p.R27H,ASCC1:NM_001369086:exon2:c.G80A:p.R27H,ASCC1:NM_001369087:exon2:c.G14A:p.R5H,ASCC1:NM_001369088:exon2:c.G14A:p.R5H,ASCC1:NM_001369089:exon2:c.G14A:p.R5H,ASCC1:NM_001369090:exon2:c.G14A:p.R5H,ASCC1:NM_001369091:exon2:c.G14A:p.R5H,ASCC1:NM_001369092:exon2:c.G14A:p.R5H,ASCC1:NM_001369093:exon2:c.G14A:p.R5H,ASCC1:NM_001369094:exon2:c.G14A:p.R5H,ASCC1:NM_001369095:exon2:c.G14A:p.R5H,ASCC1:NM_001369096:exon2:c.G14A:p.R5H,ASCC1:NM_001369097:exon2:c.G14A:p.R5H,ASCC1:NM_001369098:exon2:c.G14A:p.R5H,ASCC1:NM_001369099:exon2:c.G80A:p.R27H,ASCC1:NM_001369100:exon2:c.G14A:p.R5H,ASCC1:NM_001369103:exon2:c.G14A:p.R5H,ASCC1:NM_001369104:exon2:c.G14A:p.R5H,ASCC1:NM_001369108:exon2:c.G14A:p.R5H,ASCC1:NM_001369109:exon2:c.G14A:p.R5H,ASCC1:NM_001369110:exon2:c.G14A:p.R5H,ASCC1:NM_001369111:exon2:c.G14A:p.R5H,ASCC1:NM_001369112:exon2:c.G14A:p.R5H	Barrett esophagus/esophageal adenocarcinoma	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0719611719894	.	.	3.298e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs751027189	8.217e-06	9.577e-06	6.814e-06	9.634e-06	0.0002	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	0	0	2.522e-05	0	0.0002	7.202e-06	3.314e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.91255	D	0.043	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999713	0.48481	D	2.435	0.70606	M	1.36	0.74371	T	-2.81	0.81350	D	0.709	0.71232	0.170	0.85404	D	0.568	0.84331	D	10	0.49412188	0.61165	T	0.071961	0.71408	D	0.183	0.45592	0.365	0.37199	0.91155186707	0.91066	0.584342477033977	0.58363	0.774521678833	0.64954	0.561922550201	0.47538	T	0.042121	0.45088	T	0.0633551	0.60034	T	0.022357	0.71782	D	0.975217819213867	0.70837	D	0.969903	0.89155	D	0.3248336	0.55044	0.20501535	0.44652	0.3248336	0.55044	0.20501535	0.44651	-9.04	0.67955	D	.	.	0.222	0.66208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.608593	0.92513	32	0.99944703129828949	0.99886	0.89801	0.50504	D	AEFBI	0.760592	0.69856	D	0.72554509600811	0.81309	7.491615	0.702054133888203	0.82533	7.791024	0.99999999843401	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.559000	0.60505	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.213	0.86818	808	0.43318	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	35	chr10	72213285	.	C	T	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=800;ExcessHet=0;FS=3.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.146;SOR=0.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr10	72341089	72341089	G	T	exonic	DNAJB12	.	nonsynonymous SNV	DNAJB12:NM_001002762:exon4:c.C539A:p.A180E,DNAJB12:NM_001365080:exon4:c.C539A:p.A180E,DNAJB12:NM_001365081:exon4:c.C539A:p.A180E,DNAJB12:NM_017626:exon4:c.C539A:p.A180E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0341568613732	.	.	8.262e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs143893741	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.798	0.03134	T	0.323	0.20100	T	0.765	0.43734	P	0.149	0.34106	B	0.006315	0.32122	N	0.266466	0.879932	0.35730	D	1.04	0.26193	L	-0.21	0.66294	T	-0.55	0.16799	N	0.377	0.44474	-0.6491	0.62753	T	0.216	0.57810	T	10	0.1908288	0.34742	T	0.034157	0.55484	D	0.113	0.31778	0.287	0.24601	0.909612298926	0.90870	0.3560968900239404	0.35523	0.722490668574	0.62282	0.49193289876	0.37707	T	0.005899	0.14695	T	-0.0792851	0.39832	T	-0.351664	0.39015	T	0.485810935497284	0.32110	T	0.857714	0.54741	D	0.059259955	0.12024	0.14079209	0.33549	0.059259955	0.12023	0.14079209	0.33548	-5.41	0.41016	T	.	.	0.399	0.59505	A	.;.;.	.;.;.	2.688260	0.35084	19.80	0.97850419969388491	0.36392	0.94206	0.60435	D	AEFDBHCIJ	0.694188	0.65327	D	0.0630810722556381	0.44747	2.743095	0.150729594617421	0.47179	2.952157	0.999999973209282	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	5.744000	0.68300	8.659000	0.77964	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1323:0.8677:0.0	16.338	0.82906	867	0.32089	DnaJ domain;DnaJ domain;DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1235.33	41	chr10	72341089	.	G	T	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=810;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.035;SOR=1.157	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr10	73193536	73193536	C	G	exonic	FAM149B1	.	nonsynonymous SNV	FAM149B1:NM_173348:exon5:c.C485G:p.P162R	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0423094213568	.	0.000998403	0.0014	0	0	0	0	0.0005	0	0.0033	0.0002911	45	154602	rs533399071	0.0005	0.0005	0.0004	0.0006	0.0031	0.0005	0.0005	0.0027	0.0026	0.0002	0.0008	3.973e-05	0	0	0.0031	0.0003	0.0008	0.0030	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0.0002	0	0.0068	0.0003	0.0019	0.0035	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000044	0.53742	D	0.124834	0.973086	0.38996	D	2.365	0.68172	M	0.83	0.47815	T	-2.48	0.54059	N	0.311	0.35088	-0.4840	0.69224	T	0.280	0.65229	T	10	0.010787666	0.00239	T	0.042309	0.60393	D	0.154	0.40340	.	.	0.346992582518	0.34303	0.3891334639910722	0.38828	.	.	0.398799300194	0.24901	T	0.027432	0.20093	T	-0.356426	0.04336	T	-0.289373	0.45839	T	0.0392468646168709	0.03554	T	0.853715	0.53946	D	0.292042	0.52182	0.2112638	0.45547	0.292042	0.52181	0.2112638	0.45546	-3.586	0.17654	T	.	.	0.126	0.26669	B	.	.	3.684645	0.52465	23.2	0.99706019321064443	0.81005	0.88357	0.48248	D	AEFBI	0.187503	0.31480	N	0.470258467390351	0.65360	4.812848	0.380546406991336	0.60367	4.223381	0.226025816415123	0.18411	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	1.798000	0.38449	5.783000	0.49817	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.538000	0.29892	0.0:1.0:0.0:0.0	13.593	0.61435	896	0.25515	Protein of unknown function DUF3719	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004975	0.000000	0.000000	0.000000	0.000000	0.000000	0.022989	0.013514	0.02632	1018.33	33	chr10	73193536	.	C	G	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.156;DP=729;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.828;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	18	0	1	0
chr10	73427626	73427626	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon3:c.C364T:p.R122W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0767080318282	.	.	2.494e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs748982742	3.29e-05	3.557e-05	2.999e-05	3.584e-05	6.733e-05	2.548e-05	2.253e-05	2.918e-05	2.594e-05	0	6.733e-05	0	0	0	0	3.874e-05	1.66e-05	1.162e-05	5.915e-05	5.911e-05	5.14e-05	6.726e-05	4.828e-05	3.078e-05	2.211e-05	8e-06	2.99e-06	4.828e-05	0.0055	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000030	0.55875	D	0.116529	0.800	0.34501	D	.	.	.	0.72	0.50976	T	-4.1	0.74900	D	0.659	0.67650	-0.1968	0.77753	T	0.313	0.68291	T	10	0.47281873	0.59965	T	0.076708	0.72597	D	0.201	0.48592	0.426	0.47185	0.643648580697	0.64070	0.691261325677446	0.69066	0.57297603563	0.53367	0.516277730465	0.41103	T	0.157681	0.50038	T	-0.109419	0.34863	T	-0.197306	0.54902	T	0.93419086933136	0.60149	D	0.877312	0.59062	D	0.43326578	0.62965	0.37792215	0.62882	0.43326578	0.62966	0.37792215	0.62881	-5.467	0.41559	T	.	.	0.094	0.15115	B	.;.	.;.	4.954360	0.81862	27.6	0.9992173541712962	0.98787	0.96978	0.71989	D	AEFBI	0.710980	0.66457	D	0.828478055539266	0.87851	9.363298	0.80633093715838	0.90229	10.31361	0.0263061070855745	0.13704	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	5.93	0.95888	4.901000	0.62947	2.646000	0.33784	0.618000	0.50648	0.997000	0.40164	0.911000	0.28135	0.982000	0.59238	0.0:0.0:0.836:0.164	12.747	0.56664	824	0.40336	Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	107	chr10	73427626	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.127;DP=726;ExcessHet=0;FS=3.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.076;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr10	73428248	73428248	G	C	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon2:c.C37G:p.P13A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00429441812126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.227	0.25362	T	0.02	0.18235	B	0.016	0.17743	B	0.808768	0.09267	N	0.907323	0.999992	0.08975	N	1.265	0.31966	L	0.93	0.44065	T	0.06	0.06253	N	0.203	0.22614	-1.0116	0.26416	T	0.075	0.30179	T	10	0.045121074	0.03546	T	0.004294	0.10404	T	0.012	0.01476	0.253	0.19223	0.202949470691	0.19918	0.25802454014866605	0.25716	0.115067041144	0.12980	0.247937843204	0.03554	T	4.47E-4	0.00152	T	-0.287672	0.09871	T	-0.650998	0.08885	T	0.0559113237793929	0.06509	T	0.612239	0.23293	T	0.032608062	0.03319	0.029849017	0.01368	0.032608062	0.03319	0.029849017	0.01368	-3.299	0.13724	T	.	.	0.060	0.01059	B	.;.	.;.	0.540929	0.09093	5.878	0.57972464420546976	0.05888	0.17893	0.20032	N	AEFBI	0.046171	0.07636	N	-0.925702353163552	0.10244	0.4885797	-0.973330088820512	0.10387	0.5227955	6.42020289937291E-5	0.04366	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.41	-0.521	0.11336	0.104000	0.15148	-0.155000	0.11380	-0.106000	0.15538	0.298000	0.25306	0.000000	0.08366	0.114000	0.18915	0.487:0.0:0.513:0.0	7.301	0.25593	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	149.66	57	chr10	73428248	.	G	C	149.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.016;DP=806;ExcessHet=0.119;FS=49.14;InbreedingCoeff=-0.073;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.557;SOR=5.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:81:.:.:0,81,1022:.	16	0	2	1
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.02632	1022.33	35	chr10	73498685	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.698;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=2.4;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	18	0	1	0
chr10	73516551	73516551	G	A	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon18:c.C3704T:p.T1235M,USP54:NM_001350995:exon18:c.C3584T:p.T1195M,USP54:NM_001378208:exon18:c.C3704T:p.T1235M,USP54:NM_001378209:exon18:c.C3704T:p.T1235M,USP54:NM_001378210:exon18:c.C3704T:p.T1235M,USP54:NM_152586:exon19:c.C3875T:p.T1292M	.	.	.	.	.	.	.	.	.	.	.	2427861	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0055289534368	7.7e-05	0.000199681	7.413e-05	0	0.0002	0.0001	0	7.492e-05	0	6.056e-05	6.47e-05	10	154602	rs138525330	4.994e-05	4.994e-05	5.036e-05	4.95e-05	0.0002	4.059e-05	3.734e-05	8.861e-05	6.427e-05	0	0.0002	0	2.519e-05	0	0.0002	4.766e-05	9.934e-05	4.637e-05	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0002	1.714e-05	1.129e-05	1.171e-05	6.25e-06	0	0	6.534e-05	0	0.0002	0	0	4.41e-05	0.0005	0	0.191	0.21066	T	0.083	0.41405	T	0.081	0.24602	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	1.91	0.23283	T	-0.43	0.14390	N	0.089	0.18103	-1.0379	0.17954	T	0.053	0.22501	T	9	0.028637588	0.00995	T	0.005529	0.14258	T	0.051	0.14325	.	.	0.0551355673512	0.04727	0.1581554558648949	0.15736	0.168900827507	0.19044	0.230015218258	0.01969	T	0.004844	0.04259	T	-0.43715	0.01344	T	-0.66874	0.07689	T	0.0290573012589812	0.01845	T	0.608739	0.24845	T	0.0129468925	0.00045	0.040951807	0.04543	0.0129468925	0.00045	0.040951807	0.04543	-5.146	0.38388	T	.	.	0.086	0.10691	B	.;.	.;.	0.929736	0.13050	9.553	0.44482775356949716	0.03423	0.12674	0.17412	N	AEFDBI	0.056852	0.10542	N	-1.21247686091911	0.04817	0.2182527	-1.25080951375517	0.05119	0.2431628	0.0757843059306088	0.15707	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	0.786	0.17734	0.218000	0.17407	2.113000	0.30672	-0.781000	0.03322	0.000000	0.06391	0.994000	0.32194	0.195000	0.21750	0.2436:0.0993:0.6571:0.0	9.174	0.36259	686	0.59327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1777.33	35	chr10	73516551	.	G	A	1777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=762;ExcessHet=0;FS=5.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.271;SOR=1.253	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1196	18	0	1	0
chr10	73682794	73682794	C	T	exonic	AGAP5	.	nonsynonymous SNV	AGAP5:NM_001144000:exon5:c.G397A:p.V133I	.	.	.	.	.	.	.	.	0.0053	0.214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767228380	8.22e-06	8.893e-06	5.453e-06	1.101e-05	0.0002	4.38e-06	3.46e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	4.97e-05	1.16e-05	6.587e-06	6.565e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.005	0.65419	D	0.281	0.21612	T	0.231	0.30614	B	0.055	0.25995	B	0.785496	0.09438	N	0.891453	0.99989	0.19853	N	1.05	0.26816	L	-2.35	0.88066	D	-0.03	0.10308	N	0.051	0.07125	-0.5765	0.65756	T	0.486	0.80400	T	10	0.09412351	0.16710	T	0.02123	0.43966	T	0.147	0.38986	0.16	0.06396	0.149567049428	0.14543	0.007783333594523953	0.00743	.	.	0.739842653275	0.72950	T	0.001035	0.00564	T	-0.0671759	0.41778	T	-0.33427	0.40992	T	0.086805570137387	0.10834	T	0.380262	0.09172	T	0.062351875	0.13014	0.055824224	0.09864	0.062351875	0.13013	0.055824224	0.09864	-2.901	0.09153	T	.	.	0.091	0.18910	B	.;.;.	.;.;.	2.382869	0.30587	18.48	0.9770203571687055	0.35442	0.42436	0.26877	N	AEFI	0.123024	0.23843	N	-0.522655681890417	0.21349	1.13232	-0.500091247228941	0.22151	1.201771	1.32304585837057E-4	0.05486	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.65	1.65	0.23015	1.376000	0.33912	3.369000	0.37918	-0.768000	0.03469	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	9.345	0.37265	693	0.58582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	34	chr10	73682794	.	C	T	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.888;DP=752;ExcessHet=0;FS=6.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.75;MQRankSum=-2.325;QD=14.4;ReadPosRankSum=-0.654;SOR=1.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr10	73746863	73746863	C	T	exonic	SEC24C	.	nonsynonymous SNV	SEC24C:NM_198597:exon2:c.C31T:p.P11S,SEC24C:NM_004922:exon3:c.C31T:p.P11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0219502256734	7.7e-05	.	6.604e-05	0.0002	0	0	0	0	0.0011	0.0003	5.17e-05	8	154602	rs146510673	1.507e-05	1.505e-05	1.09e-05	1.928e-05	0.0002	9.87e-06	8.43e-06	0.0001	0.0001	0	0	0	2.527e-05	0	0	9.001e-07	3.315e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.183	0.29153	T	0.155	0.28155	B	0.127	0.32738	B	0.012270	0.29231	N	0.411905	0.998973	0.81001	D	0.865	0.21413	L	-1.05	0.76690	T	-2.35	0.51968	N	0.203	0.22486	-0.5974	0.64923	T	0.317	0.68682	T	10	0.12895438	0.24534	T	0.02195	0.44785	T	0.156	0.40720	.	.	0.460791969852	0.45704	0.4355990136964781	0.43476	0.0117517464384	0.01108	0.388287931681	0.23428	T	0.198194	0.55510	T	-0.242198	0.15070	T	-0.289485	0.45826	T	0.0537927190608437	0.06154	T	0.742826	0.36203	T	0.15906781	0.35752	0.13984601	0.33353	0.15906781	0.35751	0.13984601	0.33352	-5.03	0.37164	T	.	.	0.069	0.03266	B	.;.	.;.	2.645206	0.34426	19.62	0.98877453700131457	0.47754	0.78169	0.38526	D	AEFDBI	0.204298	0.33075	N	0.0113165832537705	0.42370	2.551553	0.195910777634446	0.49622	3.16322	0.99999282809211	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.85	4.9	0.63643	1.920000	0.39655	4.958000	0.46324	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8663:0.1337:0.0	17.629	0.88004	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1268.33	33	chr10	73746863	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=733;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.033;SOR=0.78	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	18	0	1	0
chr10	73799201	73799201	G	A	exonic	ZSWIM8	.	nonsynonymous SNV	ZSWIM8:NM_001242487:exon21:c.G4361A:p.R1454Q,ZSWIM8:NM_001242488:exon21:c.G4361A:p.R1454Q,ZSWIM8:NM_001367799:exon21:c.G4376A:p.R1459Q,ZSWIM8:NM_015037:exon21:c.G4376A:p.R1459Q	.	.	.	.	.	.	.	.	.	.	.	2689258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.00632874823433	.	.	3.287e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770311888	1.442e-05	1.505e-05	9.558e-06	1.934e-05	0.0007	9.27e-06	7.86e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.31e-06	0	0.0001	1.971e-05	1.97e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.146	0.25055	T	0.598	0.08106	T	0.978	0.58756	D	0.356	0.43023	B	0.000003	0.62929	U	0.000000	0.99988	0.50402	D	1.04	0.26193	L	0.96	0.42888	T	0.2	0.04861	N	0.519	0.54932	-1.0663	0.10246	T	0.097	0.36289	T	10	0.20939654	0.37301	T	0.006329	0.16639	T	0.162	0.41843	0.28	0.23483	0.0675242888579	0.06100	0.19362761630031078	0.19280	0.688784453109	0.60452	0.489183008671	0.37325	T	0.005552	0.15893	T	-0.239727	0.15385	T	-0.345459	0.39725	T	0.25549810578335	0.23118	T	0.956004	0.83469	D	0.26722863	0.49795	0.23949231	0.49300	0.26722863	0.49794	0.23949231	0.49299	-4.641	0.32683	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	4.510164	0.70621	25.5	0.99893788955866136	0.96742	0.99371	0.95155	D	AEFDBHCI	0.938690	0.93823	D	0.527850669230569	0.68743	5.259376	0.622690702910171	0.76593	6.519375	0.999999999999647	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	9.078000	0.93430	11.813000	0.96995	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.555	0.95331	545	0.72614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	34	chr10	73799201	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=1038;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.521;SOR=1.112	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L	Quebec platelet disorder, Autosomal dominant	1	1409	105	7	0	119	0.0405175	.	.	.	316280	not_provided|Quebec_platelet_disorder	MedGen:C3661900|MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038771	0.035354	0.040761	0.058480	0.000000	0.025862	0.033537	0.026515	0.05263	3107.83	42	chr10	73911598	.	G	T	3107.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=6.02;DP=877;ExcessHet=0.119;FS=5.871;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.716;SOR=1.034	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	17	0	2	0
chr10	73913659	73913659	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon6:c.C530T:p.A177V,PLAU:NM_001319191:exon6:c.C323T:p.A108V,PLAU:NM_002658:exon7:c.C581T:p.A194V	Quebec platelet disorder, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	316300	Quebec_platelet_disorder|not_provided	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	0.0356830325891	.	0.000599042	0.0004	0	8.654e-05	0.0037	0	0.0002	0.0011	6.108e-05	0.0003234	50	154602	rs145865648	0.0005	0.0005	0.0004	0.0005	0.0123	0.0004	0.0004	0.0114	0.0111	0	6.712e-05	0	0.0123	0	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	0	0	0.0001	0	0.0031	0	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.049552	1	0.81001	D	.	.	.	1.81	0.25182	T	-3.58	0.69118	D	0.678	0.68516	-1.0329	0.19522	T	0.059	0.24649	T	10	0.01889646	0.00416	T	0.035683	0.56507	D	0.154	0.40340	.	.	0.488827753106	0.48517	0.6879147439663108	0.68731	0.972466431817	0.73421	0.500087141991	0.38840	T	0.519048	0.83146	D	-0.341408	0.05290	T	-0.26655	0.48168	T	0.127081973561236	0.15110	T	0.872413	0.57909	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.61176	A	.;.	.;.	4.722440	0.75979	26.4	0.99942822447606838	0.99848	0.79434	0.39360	D	AEFDBCI	0.337688	0.43541	N	0.364066487320556	0.59485	4.128434	0.434640388669401	0.63737	4.613508	0.999999999983646	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.25	5.25	0.73169	1.590000	0.36264	6.026000	0.52860	0.599000	0.40250	0.861000	0.30630	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	14.708	0.68818	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3646.33	66	chr10	73913659	.	C	T	3646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=1513;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.156;SOR=0.763	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr10	73913679	73913679	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon6:c.C550T:p.R184W,PLAU:NM_001319191:exon6:c.C343T:p.R115W,PLAU:NM_002658:exon7:c.C601T:p.R201W	Quebec platelet disorder, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2424321	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.12778187791	0.0003	0.000399361	0.0003	0.0001	8.654e-05	0	0.0015	0.0003	0	0	0.0002587	40	154602	rs145070893	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	0.0002	0	0	0.0008	0.0005	0.0004	0.0003	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	7.232e-05	0	0.0005	0	0	0.0003	0	0.0004	0	0	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.383797	0.13353	N	0.702318	0.999997	0.08975	N	.	.	.	-2.47	0.88997	D	-4.09	0.74821	D	0.379	0.45047	0.050	0.83233	D	0.773	0.92273	D	10	0.091998935	0.16162	T	0.127782	0.80964	D	0.416	0.72631	.	.	0.946118887695	0.94555	0.6008504495127298	0.60016	0.88832483816	0.70104	0.389131307602	0.23548	T	0.528404	0.83635	D	-0.15412	0.27668	T	-0.148641	0.59364	T	0.418972700834274	0.29652	T	0.886911	0.61435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30660	B	.;.	.;.	3.427707	0.47621	22.5	0.99901925544609493	0.97350	0.06464	0.12472	N	AEFDBCI	0.159678	0.28551	N	0.0918637594022518	0.46083	2.854311	-0.0409797258062588	0.37884	2.224195	0.999969374771407	0.48965	0.67177	0.52595	0	0.610034	0.51514	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.25	1.98	0.25351	-0.006000	0.12769	1.088000	0.23954	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.967000	0.53440	0.5285:0.4715:0.0:0.0	10.550	0.44272	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2904.33	66	chr10	73913679	.	C	T	2904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=1532;ExcessHet=0;FS=3.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.1;SOR=0.544	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr10	74670220	74670220	C	G	exonic	ADK	.	nonsynonymous SNV	ADK:NM_001202449:exon9:c.C810G:p.D270E,ADK:NM_001202450:exon9:c.C744G:p.D248E,ADK:NM_001369123:exon9:c.C800G:p.T267S,ADK:NM_001369124:exon9:c.C693G:p.D231E,ADK:NM_001123:exon10:c.C864G:p.D288E,ADK:NM_006721:exon10:c.C915G:p.D305E	Hypermethioninemia due to adenosine kinase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1431354	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.0249494880517	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760003028	1.71e-05	1.779e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	1.259e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.18757	T	0.924	0.02835	T	0.0	0.02946	B	0.001	0.04355	B	0.000273	0.46590	D	0.242783	0.996958	0.46670	D	1.615	0.41426	L	-2.29	0.87591	D	-0.77	0.21429	N	0.25	0.33469	-0.5861	0.65376	T	0.432	0.77361	T	10	0.21503899	0.38045	T	0.024949	0.47933	T	0.248	0.55615	0.356	0.35734	0.879882798172	0.87871	0.31801584842255415	0.31714	0.258549429352	0.28413	0.387214004993	0.23276	T	0.554571	0.84979	D	-0.166387	0.25784	T	-0.274126	0.47401	T	0.157275453209877	0.17667	T	0.754325	0.37774	T	0.1868807	0.40117	0.12298249	0.29659	0.1868807	0.40117	0.12298249	0.29658	-4.533	0.35237	T	.	.	0.154	0.34138	B	.;.;.;.	.;.;.;.	2.703669	0.35325	19.87	0.98734035089830052	0.45393	0.91591	0.53849	D	AEFI	0.616746	0.60319	D	-0.183641449209828	0.33816	1.922829	0.0207486592609357	0.40679	2.431637	0.723750856084448	0.22963	0.706298	0.61202	0	0.709663	0.81188	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.79	4.88	0.63131	1.698000	0.37413	2.783000	0.34747	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8188:0.0:0.1812	8.580	0.32781	229	0.91079	.;Carbohydrate kinase PfkB;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.33	35	chr10	74670220	.	C	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=733;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.612;SOR=0.841	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	75043830	75043830	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon3:c.G388A:p.A130T,DUSP29:NM_001384909:exon4:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.016393421255	0.0004	.	7.501e-05	0.0006	0	0	0	4.575e-05	0	0	5.82e-05	9	154602	rs146856636	1.232e-05	1.231e-05	1.362e-05	1.1e-05	0.0001	7.7e-06	6.35e-06	5.851e-05	3.759e-05	0.0001	0	0	0	0	0	5.396e-06	9.938e-05	1.159e-05	6.569e-05	6.566e-05	0.0001	2.689e-05	0.0002	3.516e-05	2.616e-05	9.566e-05	6.963e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.04	0.42199	D	0.214	0.26386	T	0.001	0.07471	B	0.002	0.06944	B	0.010813	0.29776	N	0.312805	0.999933	0.19363	N	0.74	0.18910	N	0.14	0.60854	T	0.12	0.05604	N	0.103	0.08646	-1.0106	0.26729	T	0.102	0.37743	T	10	0.0718005	0.10632	T	0.016393	0.37623	T	0.045	0.12272	.	.	0.328486982098	0.32448	0.4104154547582546	0.40957	0.341506169282	0.36087	0.321364343166	0.13629	T	0.125864	0.45185	T	-0.448065	0.01159	T	-0.55139	0.17192	T	0.0357965156435966	0.02945	T	.	.	.	0.17876647	0.38914	0.11181814	0.26974	0.17876647	0.38914	0.11181814	0.26973	-5.002	0.36861	T	.	.	0.076	0.05845	B	.	.	0.828210	0.11999	8.554	0.96558147626656399	0.30251	0.13842	0.18081	N	AEFDBCI	0.100444	0.20196	N	-0.764967518162133	0.14229	0.7071569	-0.74388646448915	0.15872	0.8369558	0.99998473320277	0.51787	0.517182	0.21443	0	0.609123	0.50646	0	0.478664	0.07449	1	0.554799	0.18163	0	.	.	4.93	2.81	0.31971	0.072000	0.14482	0.262000	0.16556	-0.195000	0.09104	0.011000	0.18532	0.008000	0.19753	0.039000	0.14166	0.1332:0.576:0.1297:0.1611	3.430	0.06997	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	850.33	34	chr10	75043830	.	C	T	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.185;DP=705;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.1;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,965	18	0	1	0
chr10	75058442	75058442	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon2:c.G73A:p.E25K,DUSP29:NM_001384909:exon3:c.G73A:p.E25K	.	407	1096	19	0	0	19	0.0085934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0061	0.00638978	0.0058	0.0063	0.0044	0	0.0009	0.0081	0.0077	0.0023	0.0060413	934	154602	rs149144570	0.0057	0.0057	0.0057	0.0058	0.0309	0.0056	0.0056	0.0272	0.0257	0.0069	0.0036	0.0103	0	0.0015	0.0309	0.0061	0.0069	0.0024	0.0062	0.0062	0.0063	0.0062	0.0094	0.0059	0.0058	0.0082	0.0077	0.0052	0.0011	0.0094	0.0092	0.0002	0.0004	0.0476	0.0074	0.0114	0.0019	0.14	0.25664	T	0.403	0.14865	T	0.013	0.16609	B	0.015	0.17295	B	0.408525	0.04577	N	1.423790	0.999998	0.08975	N	1.5	0.37844	L	3.52	0.04905	T	-0.2	0.10136	N	0.516	0.54671	-0.9397	0.42664	T	0.010	0.03673	T	10	0.0051972866	0.00113	T	.	.	.	0.088	0.25558	.	.	0.352693368174	0.34879	0.5131266602187011	0.51234	0.524778599701	0.50156	0.335973441601	0.15835	T	0.005079	0.04516	T	-0.569727	0.00222	T	-0.580762	0.14476	T	0.00517743212404494	0.00056	T	.	.	.	0.1254696	0.29413	0.11989663	0.28937	0.1254696	0.29413	0.11989663	0.28936	-4.661	0.32929	T	.	.	0.080	0.07889	B	.	.	1.313447	0.17168	13.00	0.96782459248031616	0.31079	0.65480	0.32752	D	AEFDGBHCI	0.102281	0.20521	N	-0.402137600320031	0.25394	1.378178	-0.277786410872894	0.28832	1.610606	0.999999761661216	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	4.2	0.48814	1.591000	0.36275	1.182000	0.24703	0.530000	0.24713	0.813000	0.29893	0.016000	0.20520	0.105000	0.18517	0.0:0.8339:0.1661:0.0	12.708	0.56440	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020645	0.025253	0.025815	0.032164	0.000000	0.068966	0.006098	0.000000	0.02632	1187.33	39	chr10	75058442	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=756;ExcessHet=0;FS=6.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.07;SOR=0.319	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	18	0	1	0
chr10	75094821	75094821	G	A	exonic	DUSP13	.	nonsynonymous SNV	DUSP13:NM_001007272:exon4:c.C602T:p.A201V,DUSP13:NM_001363514:exon4:c.C860T:p.A287V,DUSP13:NM_016364:exon4:c.C452T:p.A151V,DUSP13:NM_001320843:exon5:c.C452T:p.A151V,DUSP13:NM_001007273:exon6:c.C731T:p.A244V,DUSP13:NM_001320842:exon7:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.198954532298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.685	0.94485	H	-0.23	0.66652	T	-4.0	0.74051	D	0.946	0.95841	0.473	0.90165	D	0.619	0.86564	D	10	0.90159065	0.89521	D	0.198955	0.86624	D	0.818	0.94162	.	.	0.521601224155	0.51804	0.9036362636836917	0.90336	0.624719113291	0.56669	0.66514134407	0.62145	T	0.789778	0.95561	D	0.383134	0.88909	D	0.312569	0.88770	D	0.999062240123749	0.96056	D	0.957954	0.95853	D	0.8362485	0.86341	0.7498638	0.85215	0.8362485	0.86342	0.7498638	0.85216	-12.507	0.88727	D	.	.	0.648	0.75904	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.037730	0.83830	28.1	0.99929625268184041	0.99279	0.98977	0.89442	D	AEFBI	0.946729	0.95649	D	1.03673148337112	0.96766	15.11615	0.960846842172383	0.97715	16.62802	0.999999999999996	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.37	5.37	0.76949	9.559000	0.97245	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	19.107	0.93282	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	34	chr10	75094821	.	G	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.286;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.752;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1394	18	0	1	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015222	0.012346	0.020202	0.016234	0.000000	0.058140	0.014925	0.004310	0.02632	904.29	33	chr10	75401348	.	T	TCCG	904.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.542;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr10	77001550	77001550	C	G	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001161352:exon19:c.G2123C:p.R708P	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0101311706805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77034142	2.858e-06	2.736e-06	1.41e-06	4.346e-06	2.781e-06	6.7e-07	4.5e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.781e-06	1.719e-05	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.187	0.21385	T	0.277	0.21880	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.805	0.20218	L	-1.77	0.83660	D	-1.89	0.44094	N	0.444	0.68342	-0.7194	0.59493	T	0.281	0.65340	T	9	0.26412445	0.43897	T	0.010131	0.26302	T	0.342	0.66392	0.361	0.36548	0.945070154208	0.94449	0.6561113936774371	0.65547	.	.	0.681922078133	0.64544	T	0.018155	0.47383	T	0.0657717	0.60330	T	-0.1433	0.59830	T	0.444336585129302	0.30589	T	0.980602	0.93381	D	0.24034247	0.46936	0.4205568	0.66015	0.24034247	0.46936	0.4205568	0.66015	-4.636	0.32621	T	.	.	0.347	0.59909	A	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.200181	0.63377	24.6	0.96610877481675284	0.30441	0.90854	0.52386	D	AEFBIJ	0.859554	0.77725	D	-0.0637667540057653	0.38991	2.292193	0.173529165535062	0.48400	3.05656	0.994688496924339	0.33752	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.93	4.97	0.65419	4.492000	0.60054	5.077000	0.47232	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2804:0.6303:0.0:0.0893	6.877	0.23335	482	0.77288	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1023.33	37	chr10	77001550	.	C	G	1023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.967;DP=739;ExcessHet=0;FS=1.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.345;SOR=0.903	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1037,0,1583	18	0	1	0
chr10	77217505	77217505	C	A	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001322838:exon4:c.G40T:p.G14C	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	146.33	33	chr10	77217505	.	C	A	146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.751;DP=795;ExcessHet=0;FS=79.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.18;SOR=6.272	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr10	77819937	77819937	G	A	exonic	DLG5	.	nonsynonymous SNV	DLG5:NM_004747:exon16:c.C3484T:p.R1162W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0525236917247	.	0.000399361	0.0001	0	0	0.0014	0	1.568e-05	0	8.249e-05	0.0001035	16	154602	rs200091104	3.986e-05	3.967e-05	4.511e-05	3.455e-05	0.0005	3.127e-05	2.86e-05	0.0003	0.0003	0	2.271e-05	0	0.0005	0	0	3.337e-05	0	0	7.881e-05	7.875e-05	6.425e-05	9.403e-05	0.0010	4.495e-05	3.511e-05	0.0004	0.0002	0	0.0022	0	0	0.0010	0	0	5.881e-05	0	0.0002	0.001	0.78490	D	0.016	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.003182	0.35300	N	0.000000	0.604666	0.30911	N	2.125	0.59049	M	3.38	0.05847	T	-3.83	0.74504	D	0.745	0.74462	-1.1317	0.01703	T	0.040	0.17191	T	10	0.06039402	0.07412	T	0.052524	0.65105	D	0.211	0.50185	.	.	0.678051791944	0.67531	0.4794096181256339	0.47860	0.892515841933	0.70279	0.505038380623	0.39529	T	0.62056	0.88100	D	-0.140181	0.29863	T	-0.0196886	0.69049	D	0.431790052780611	0.30127	T	.	.	.	0.11986219	0.28215	0.13786541	0.32941	0.11986219	0.28215	0.13786541	0.32941	-5.123	0.38148	T	.	.	0.147	0.32445	B	.;.	.;.	3.937364	0.57590	23.9	0.99837272945628719	0.91800	0.91633	0.53936	D	AEFDBI	0.467066	0.51445	N	0.0753359716534703	0.45313	2.790006	-0.0338025239477586	0.38197	2.247129	0.999946873242603	0.47345	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.73	-0.102	0.12951	2.913000	0.48487	1.807000	0.28930	-0.154000	0.11915	1.000000	0.71638	0.964000	0.29435	0.719000	0.34739	0.0776:0.0:0.2493:0.6732	9.479	0.38053	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3047.81	35	chr10	77819937	.	G	A	3047.81	.	AC=2;AF=0.053;AN=38;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.1;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1375	18	1	0	0
chr10	77977615	77977615	A	T	exonic	POLR3A	.	nonsynonymous SNV	POLR3A:NM_007055:exon31:c.T4036A:p.C1346S	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1486378	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.470	0.0594439100362	.	0.000199681	4.942e-05	0	0.0002	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs149956037	7.321e-05	7.319e-05	5.583e-05	9.077e-05	0.0002	6.182e-05	5.743e-05	0.0001	0.0001	0	0.0002	0	0	0	0	7.106e-05	3.312e-05	0.0002	5.256e-05	5.25e-05	9e-05	1.344e-05	0.0003	2.557e-05	1.83e-05	8.873e-05	5.284e-05	2.408e-05	0	0.0003	0	0	0	0	4.412e-05	0	0	0.241	0.17643	T	0.278	0.21812	T	0.028	0.19712	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.16	0.65378	T	-4.37	0.77061	D	0.865	0.86191	-0.9489	0.41160	T	0.154	0.48412	T	9	0.44289285	0.58213	T	0.059444	0.67665	D	0.470	0.76421	0.737	0.86978	0.788873268749	0.78691	0.9019654516143274	0.90168	0.439276402373	0.43951	0.889690756798	0.95222	D	0.296219	0.66885	T	0.0567344	0.59201	T	0.0987644	0.76827	D	0.166965917404276	0.18371	T	0.968503	0.88585	D	0.39863622	0.60638	0.5690896	0.75052	0.39863622	0.60638	0.5690896	0.75052	-5.807	0.44635	T	0.1140405540741424	0.10048	0.511	0.65101	A	.	.	2.944667	0.39164	20.9	0.93495234309095399	0.23299	0.96869	0.71382	D	AEFDBCI	0.912397	0.87297	D	0.0396907255130889	0.43671	2.655385	0.247572027942937	0.52511	3.42554	0.999999999299071	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	8.434000	0.90158	10.918000	0.84221	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.524	0.75625	837	0.37933	DNA-directed RNA polymerase III subunit RPC1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1683.33	33	chr10	77977615	.	A	T	1683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=721;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.12;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	18	0	1	0
chr10	79513028	79513028	T	G	exonic	EIF5AL1	.	nonsynonymous SNV	EIF5AL1:NM_001099692:exon1:c.T379G:p.Y127D	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00519820807837	.	.	5.778e-05	0	0	0	0	7.507e-05	0	0.0001	3.84e-05	1	26028	rs754711374	3.973e-05	5.748e-05	2.998e-05	4.957e-05	0.0003	3.117e-05	2.85e-05	0.0002	0.0002	0	0	0	2.519e-05	0	0	2.521e-05	0	0.0003	1.321e-05	1.972e-05	1.291e-05	1.353e-05	2.948e-05	2.2e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.948e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	0.766	0.43754	P	0.344	0.42549	B	.	.	.	.	0.989199	0.24324	N	2.645	0.77386	M	0.94	0.43672	T	-5.44	0.85397	D	0.308	0.34767	-0.9682	0.37571	T	0.104	0.38292	T	9	0.27724084	0.45290	T	0.005198	0.13248	T	0.070	0.20419	.	.	0.399449838166	0.39556	0.732353087230442	0.73180	.	.	0.681075930595	0.64423	T	0.539866	0.84226	D	-0.372351	0.03477	T	-0.462114	0.26369	T	0.337214082479477	0.26512	T	0.780822	0.41560	T	0.547639	0.69824	0.53218424	0.72968	0.547639	0.69825	0.53218424	0.72969	-12.657	0.87901	D	.	.	0.415	0.60389	A	.	.	3.306354	0.45409	22.1	0.94642354767512016	0.25241	0.24523	0.22420	N	AEFBI	0.390854	0.46952	N	-0.283953123540264	0.29767	1.65374	-0.448587178073987	0.23588	1.28719	3.2499961892656E-4	0.06540	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	0.843	0.843	0.18076	0.290000	0.18731	2.994000	0.35893	0.096000	0.17612	0.984000	0.35821	1.000000	0.68203	0.330000	0.25202	0.0:0.3233:0.0:0.6767	2.937	0.05460	900	0.24599	Translation elongation factor, IF5A C-terminal|Translation elongation factor, IF5A C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001596	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	872.33	113	chr10	79513028	.	T	G	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.272;DP=1544;ExcessHet=0;FS=5.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.12;MQRankSum=-6.715;QD=4.41;ReadPosRankSum=1.67;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	0
chr10	79558925	79558925	G	A	exonic	SFTPA2	.	nonsynonymous SNV	SFTPA2:NM_001320814:exon3:c.C283T:p.R95C,SFTPA2:NM_001098668:exon4:c.C253T:p.R85C,SFTPA2:NM_001320813:exon4:c.C253T:p.R85C	Pulmonary fibrosis, idiopathic, Autosomal dominant	0	1514	7	1	0	9	0.00296345	.	.	.	610609	not_specified|not_provided|Interstitial_lung_disease_2|SFTPA2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.512	.	0.0033	0.00479233	0.0030	0.0066	0.0018	0.0150	0.0002	0.0015	0.0011	0.0027	0.0027361	423	154602	rs150273659	0.0017	0.0018	0.0017	0.0017	0.0111	0.0016	0.0016	0.0103	0.0099	0.0073	0.0021	0.0015	0.0111	0.0007	0.0016	0.0011	0.0024	0.0025	0.0032	0.0033	0.0034	0.0031	0.0139	0.0030	0.0029	0.0113	0.0104	0.0062	0	0.0024	0.0012	0.0139	0.0003	0	0.0014	0.0028	0.0035	0.171	0.28646	T	0.141	0.35710	T	.	.	.	.	.	.	0.082360	0.20814	N	0.455646	0.976274	0.25384	N	.	.	.	-3.42	0.94348	D	-1.5	0.45769	N	0.224	0.25130	0.028	0.82813	D	0.681	0.88959	D	10	0.024403393	0.00670	T	.	.	.	0.512	0.79094	.	.	0.515317749148	0.51173	0.3400045411363246	0.33913	0.00348592063493	0.00296	0.59901702404	0.52765	T	.	.	.	-0.211272	0.19200	T	-0.0639298	0.66057	T	0.0124070116980244	0.00203	T	0.314569	0.06202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.69456	B	.;.;.;.	.;.;.;.	1.120057	0.15057	11.55	0.81326281718247595	0.13630	0.02835	0.07581	N	AEFDGBI	0.079600	0.16080	N	-0.599691469529514	0.18954	0.9882423	-0.632123795399924	0.18670	0.9983821	2.38972542740888E-4	0.06095	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.87	2.87	0.32523	0.271000	0.18390	2.621000	0.33635	-3.590000	0.00073	0.013000	0.18845	0.292000	0.24171	0.000000	0.00833	0.0:0.0:1.0:0.0	9.543	0.38431	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	979.33	41	chr10	79558925	.	G	A	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=910;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.651;SOR=0.622	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr10	79612387	79612387	G	C	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon3:c.G248C:p.G83A,SFTPA1:NM_001093770:exon4:c.G293C:p.G98A,SFTPA1:NM_001164644:exon4:c.G248C:p.G83A,SFTPA1:NM_001164645:exon4:c.G146C:p.G49A,SFTPA1:NM_001164646:exon4:c.G101C:p.G34A,SFTPA1:NM_005411:exon4:c.G248C:p.G83A	.	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.190278966362	.	.	0.0001	0	0	0	0	1.499e-05	0	0.0009	0.00011	17	154602	rs762122985	8.825e-05	8.824e-05	4.493e-05	0.0001	0.0012	7.555e-05	7.102e-05	0.0010	0.0009	0	2.236e-05	0	0	0	0.0002	1.439e-05	0.0001	0.0012	3.287e-05	3.283e-05	0	6.728e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000019	0.62929	D	0.000000	0.922564	0.27258	N	3.76	0.95097	H	-6.27	0.99601	D	-3.53	0.75615	D	0.76	0.75834	0.940	0.96249	D	0.987	0.99616	D	10	0.8197185	0.81185	D	0.190279	0.86114	D	0.683	0.88396	0.786	0.90919	0.807196080015	0.80539	0.5472066379250489	0.54646	0.137836223077	0.15542	0.695400357246	0.66481	T	0.59432	0.86905	D	-0.0289911	0.47563	T	0.129232	0.78841	D	0.99601137638092	0.88504	D	0.951205	0.81406	D	0.3447419	0.56654	0.20126468	0.44098	0.3447419	0.56654	0.20126468	0.44097	-10.309	0.76056	D	0.6931764713022509	0.77118	0.248	0.53732	B	.;.;.;.;.	.;.;.;.;.	3.939026	0.57625	23.9	0.99722120710921203	0.82125	0.87593	0.47183	D	AEFDBHI	0.101317	0.20352	N	0.533242015676982	0.69067	5.304826	0.318460287730947	0.56623	3.826055	0.00179189413031845	0.08891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.73	2.73	0.31266	4.444000	0.59743	11.208000	0.89295	0.584000	0.30380	0.991000	0.37257	1.000000	0.68203	0.098000	0.18187	0.0:0.0:1.0:0.0	9.116	0.35919	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1318.33	49	chr10	79612387	.	G	C	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.023;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.84;SOR=0.675	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	79612410	79612410	C	G	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon3:c.C271G:p.P91A,SFTPA1:NM_001093770:exon4:c.C316G:p.P106A,SFTPA1:NM_001164644:exon4:c.C271G:p.P91A,SFTPA1:NM_001164645:exon4:c.C169G:p.P57A,SFTPA1:NM_001164646:exon4:c.C124G:p.P42A,SFTPA1:NM_005411:exon4:c.C271G:p.P91A	.	0	1495	25	2	0	29	0.00960583	.	.	.	175302	not_specified|not_provided|Interstitial_lung_disease_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0030608,MedGen:C5562021,OMIM:619611	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.351	.	0.0119	0.00539137	0.0072	0.0138	0.0037	0.0002	0.0033	0.0079	0.0077	0.0079	0.0072379	1119	154602	rs1136452	0.0092	0.0092	0.0092	0.0092	0.0125	0.0091	0.0091	0.0115	0.0111	0.0125	0.0032	0.0044	7.56e-05	0.0037	0.0057	0.0103	0.0070	0.0085	0.0087	0.0087	0.0093	0.0080	0.0119	0.0083	0.0081	0.0110	0.0107	0.0119	0.0011	0.0046	0.0037	0	0.0022	0.0068	0.0100	0.0067	0.0056	0.077	0.39097	T	0.129	0.43721	T	0.016	0.17332	B	0.008	0.13708	B	0.015463	0.28237	N	0.260251	0.816777	0.28933	N	1.625	0.41611	L	-3.33	0.93928	D	-2.79	0.72240	D	0.356	0.40765	0.040	0.83040	D	0.612	0.86288	D	10	0.01736933	0.00370	T	.	.	.	0.351	0.67234	.	.	0.9178613946	0.91703	0.17685690625503245	0.17604	0.119395376908	0.13444	0.497153073549	0.38431	T	0.147696	0.48590	T	-0.247057	0.14462	T	-0.11598	0.62131	T	0.0156955311017873	0.00362	T	0.482252	0.15376	T	0.06835235	0.14883	0.09595351	0.22780	0.06835235	0.14883	0.09595351	0.22779	-4.683	0.34168	T	0.3364791293396909	0.43437	0.070	0.04396	B	.;.;.;.;.	.;.;.;.;.	1.721284	0.21914	15.40	0.89397573938290731	0.18762	0.56221	0.30062	D	AEFDBHI	0.055048	0.10061	N	-0.256447711557157	0.30846	1.723901	-0.262279279184799	0.29352	1.643735	0.00179189413031845	0.08891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.73	2.73	0.31266	0.759000	0.26127	4.617000	0.44060	0.519000	0.23678	0.009000	0.18154	0.989000	0.31174	0.079000	0.17189	0.0:1.0:0.0:0.0	9.116	0.35919	702	0.57624	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1427.33	49	chr10	79612410	.	C	G	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.084;DP=917;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.357;SOR=0.568	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	79711841	79711841	C	G	exonic	NUTM2B	.	nonsynonymous SNV	NUTM2B:NM_001278495:exon7:c.C1993G:p.Q665E	.	421	1077	20	4	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00107540885294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317635955	0.0004	0.0024	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	0.0008	0.0003	0.0002	0.0010	0.0039	0	8.914e-05	0.0004	0.0014	0.0003	0.0034	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	7.079e-05	0	0.0005	0.0004	0	0.0002	0	0.0005	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	1	0.08975	N	.	.	.	2.78	0.11298	T	-0.56	0.17003	N	0.052	0.02366	-0.9814	0.34678	T	0.011	0.03996	T	7	0.04182014	0.02872	T	0.001075	0.01239	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.04515098052657296	0.04459	.	.	.	.	.	0.002869	0.02268	T	-0.388094	0.02767	T	-0.795246	0.02024	T	0.0222420028078043	0.00936	T	0.432757	0.11777	T	0.04766708	0.08184	0.03812953	0.03616	0.04766708	0.08184	0.03812953	0.03616	-2.745	0.07689	T	.	.	0.073	0.04599	B	.	.	-0.289777	0.02662	0.341	0.10184918605024793	0.00122	0.01337	0.04602	N	AEFI	0.035045	0.04446	N	-0.875582201295554	0.11426	0.5512962	-1.07425620614281	0.08209	0.4026423	1.15030611857549E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	0.451	0.15841	-0.221000	0.09208	-1.989000	0.04383	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7692:0.0:0.2308	3.959	0.08896	814	0.42100	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	173.33	121	chr10	79711841	.	C	G	173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=873;ExcessHet=0;FS=5.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.15;MQRankSum=0.227;QD=7.22;ReadPosRankSum=0.215;SOR=2.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr10	79842065	79842065	G	A	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon4:c.G325A:p.G109R	.	55	170	1	0	0	1	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.010373805549	.	0.000998403	0.0010	0.0035	0.0006	0	0	0.0007	0	0	0.0001921	5	26028	rs537665753	0.0003	0.0003	0.0004	0.0003	0.0032	0.0003	0.0003	0.0026	0.0025	0.0032	0.0004	0.0042	0	0	0.0003	7.749e-05	0.0008	0.0001	0.0015	0.0016	0.0014	0.0015	0.0036	0.0013	0.0012	0.0031	0.0029	0.0036	0	0.0009	0.0026	0	0	0.0042	0.0001	0.0026	0	0.023	0.48186	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.21	0.10308	N	0.171	0.18239	-1.0159	0.25045	T	0.037	0.16073	T	5	0.007816613	0.00177	T	0.010374	0.26828	T	0.040	0.10527	0.545	0.65873	0.374255764437	0.37033	0.021854920884993877	0.02137	.	.	.	.	.	0.005952	0.05392	T	-0.623305	0.00105	T	-0.669584	0.07635	T	0.0213710096623668	0.00840	T	0.777822	0.41150	T	0.089068204	0.20798	0.15346055	0.36059	0.089068204	0.20798	0.15346055	0.36059	-3.992	0.23683	T	.	.	0.195	0.41633	B	.;.	.;.	4.513733	0.70713	25.6	0.9554492124112266	0.27197	0.00192	0.01112	N	AEFI	0.031245	0.03299	N	-0.666279484979306	0.16987	0.8703425	-0.89893803151887	0.12119	0.621548	1.55792357979817E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.709	0.709	0.17307	0.116000	0.15393	1.798000	0.28858	0.339000	0.19733	0.007000	0.17678	0.997000	0.33255	0.005000	0.06747	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03571	580.58	35	chr10	79842065	.	G	A	580.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.601;DP=718;ExcessHet=0;FS=2.844;InbreedingCoeff=-0.037;MLEAC=1;MLEAF=0.036;MQ=33.88;MQRankSum=1.32;QD=2.46;ReadPosRankSum=-0.643;SOR=0.934	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1769	13	0	1	5
chr10	80142157	80142157	G	A	exonic	PLAC9	.	nonsynonymous SNV	PLAC9:NM_001012973:exon2:c.G140A:p.R47H,PLAC9:NM_001331125:exon2:c.G140A:p.R47H	.	431	1051	34	6	0	46	0.0214153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.00958466	0.0060	0.0003	0.0014	0.0001	0	0.0016	0.0034	0.0365	0.0052781	816	154602	rs140942088	0.0034	0.0034	0.0022	0.0045	0.0359	0.0033	0.0032	0.0349	0.0344	0.0002	0.0013	0.0002	0.0001	3.751e-05	0.0125	0.0013	0.0035	0.0359	0.0020	0.0020	0.0015	0.0026	0.0347	0.0018	0.0018	0.0304	0.0288	0.0003	0	0.0010	0	0.0002	0	0.0170	0.0014	0.0047	0.0347	0.203	0.46129	T	0.447	0.34241	T	0.955	0.54515	P	0.202	0.36942	B	0.159526	0.03027	N	1.822350	1	0.08975	N	.	.	.	.	.	.	-2.02	0.46842	N	0.199	0.28849	-1.0179	0.24398	T	0.045	0.19194	T	8	0.0045104027	0.00093	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	0.05386547015840243	0.05328	0.0558337906702	0.06170	0.300910115242	0.10536	T	0.092442	0.40309	T	-0.528398	0.00392	T	-0.505323	0.21796	T	0.0103946692802029	0.00143	T	0.537046	0.20808	T	0.030752346	0.02793	0.029370682	0.01267	0.030752346	0.02793	0.029370682	0.01267	-4.839	0.35042	T	.	.	0.07	0.11414	B	.;.;.	.;.;.	1.452229	0.18731	13.90	0.99260506571612439	0.57188	0.04294	0.09839	N	AEFDGBCI	0.041972	0.06451	N	-0.577971813383933	0.19615	1.027963	-0.754565020862231	0.15610	0.8218491	0.999987364452922	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	3.74	0.88	0.18296	0.343000	0.19686	2.824000	0.34981	-0.192000	0.09343	0.001000	0.13787	0.185000	0.23452	0.029000	0.12982	0.3502:0.0:0.6498:0.0	5.719	0.17244	919	0.19497	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.002717	0.011696	0.000000	0.008621	0.021341	0.015152	0.02632	1642.33	37	chr10	80142157	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=788;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.626;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1290	18	0	1	0
chr10	80155872	80155872	A	T	exonic	ANXA11	.	nonsynonymous SNV	ANXA11:NM_001157:exon15:c.T1499A:p.I500N,ANXA11:NM_145868:exon16:c.T1499A:p.I500N,ANXA11:NM_001278407:exon17:c.T1499A:p.I500N,ANXA11:NM_001278408:exon17:c.T1499A:p.I500N,ANXA11:NM_001278409:exon17:c.T1400A:p.I467N,ANXA11:NM_145869:exon17:c.T1499A:p.I500N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0254702749853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	0.999	0.77913	D	0.978	0.74104	D	0.000079	0.52346	D	0.124104	0.991995	0.41527	D	3.095	0.87515	M	3.39	0.05710	T	-5.03	0.82575	D	0.674	0.72299	-1.0207	0.23486	T	0.079	0.31344	T	10	0.9071437	0.90079	D	0.02547	0.48437	D	0.387	0.70358	0.864	0.95995	0.515490261806	0.51192	0.7929434905876219	0.79247	0.474006111625	0.46600	0.801676273346	0.82218	T	0.209667	0.56994	T	0.0665319	0.60425	T	-0.142208	0.59926	T	0.998528480529785	0.94393	D	0.970003	0.89184	D	0.96940136	0.98204	0.9499666	0.98397	0.96940136	0.98204	0.9499666	0.98398	-11.613	0.84241	D	.	.	0.972	0.89791	P	.;.;.;.	.;.;.;.	5.330124	0.89453	30	0.99393160030885153	0.62428	0.97454	0.74853	D	AEFDBCI	0.926930	0.90880	D	0.908304707973952	0.92162	11.26668	0.855303253713105	0.93321	11.96683	0.999999999987036	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	8.579000	0.90568	11.187000	0.88524	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.888	0.63223	935	0.14827	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1669.33	35	chr10	80155872	.	A	T	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=764;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.506;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	18	0	1	0
chr10	80420537	80420537	G	A	exonic	PRXL2A	.	nonsynonymous SNV	PRXL2A:NM_001243778:exon2:c.G70A:p.A24T,PRXL2A:NM_001243779:exon2:c.G70A:p.A24T,PRXL2A:NM_001243780:exon2:c.G70A:p.A24T,PRXL2A:NM_001243781:exon2:c.G37A:p.A13T,PRXL2A:NM_001243782:exon2:c.G58A:p.A20T,PRXL2A:NM_032333:exon2:c.G70A:p.A24T	.	425	1094	3	0	0	3	0.00136924	.	.	.	3581779	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.00861644887506	.	.	4.948e-05	0	0	0	0	1.5e-05	0	0.0003	3.88e-05	6	154602	rs756747737	7.595e-05	7.593e-05	6.263e-05	8.94e-05	0.0006	6.425e-05	6.005e-05	0.0005	0.0004	0	0	0	0	0	0.0003	4.947e-05	4.967e-05	0.0006	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.011	0.64786	D	0.964	0.55854	D	0.634	0.51870	P	0.000002	0.62929	D	0.098411	0.99563	0.42782	D	.	.	.	.	.	.	-1.41	0.34795	N	0.46	0.49692	-0.2735	0.75717	T	0.349	0.71297	T	9	0.24491	0.41729	T	0.008616	0.22779	T	0.189	0.46613	0.419	0.46036	0.562540394707	0.55916	0.7828000908778107	0.78231	0.631368366302	0.57095	0.38729557395	0.23287	T	0.067886	0.33316	T	-0.179721	0.23777	T	-0.146502	0.59553	T	0.230335799973855	0.21967	T	0.834417	0.50357	T	0.22808868	0.45521	0.29694083	0.55727	0.22808868	0.45521	0.29694083	0.55727	-3.758	0.33002	T	.	.	0.136	0.41464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.762572	0.77010	26.6	0.99881568655988784	0.95733	0.99506	0.96851	D	AEFDBI	0.912905	0.87417	D	0.817535025588856	0.87189	9.133058	0.831805795000036	0.91908	11.13313	0.999998507827775	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	7.670000	0.82907	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.168	0.86702	941	0.13089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1882.33	147	chr10	80420537	.	G	A	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.917;DP=771;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.722;SOR=0.799	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1275	18	0	1	0
chr10	84184760	84184760	G	T	exonic	C10orf99	.	nonsynonymous SNV	C10orf99:NM_207373:exon3:c.G240T:p.Q80H	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0003	0.00399361	0.0040	0.0003	0.0132	0.0269	0.0002	0.0002	0	0.0048	0.0034993	541	154602	rs76221724	0.0016	0.0016	0.0015	0.0016	0.0277	0.0015	0.0015	0.0263	0.0258	0.0001	0.0094	0	0.0277	1.874e-05	0.0005	0.0002	0.0016	0.0047	0.0013	0.0013	0.0012	0.0014	0.0213	0.0012	0.0011	0.0181	0.0169	0.0003	0	0.0022	0	0.0213	0	0.0068	0.0002	0.0038	0.0046	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006574	0.31942	U	0.000000	0.974334	0.25497	N	.	.	.	.	.	.	-4.0	0.74051	D	0.344	0.38541	-0.9836	0.34164	T	0.108	0.39270	T	8	0.0064013004	0.00145	T	.	.	.	0.141	0.37795	0.163	0.06730	0.144782658237	0.14088	0.14085334914174644	0.14008	0.0265774283151	0.02714	.	.	.	.	.	.	-0.341494	0.05285	T	-0.245056	0.50303	T	0.0888090099234062	0.11075	T	0.50325	0.15827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.80659	P	.	.	1.803765	0.22927	15.82	0.99019210874948427	0.50548	0.70692	0.34696	D	AEFDBI	0.085898	0.17415	N	0.185296498331203	0.50492	3.238771	0.0723337538637086	0.43162	2.624	0.0043863099384363	0.10527	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	0.979	0.18864	0.060000	0.14220	1.113000	0.24175	-0.192000	0.09343	0.983000	0.35670	1.000000	0.68203	0.772000	0.36596	0.3425:0.0:0.6575:0.0	5.816	0.17752	933	0.16026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	904.33	40	chr10	84184760	.	G	T	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.726;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.879;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr10	84224338	84224338	A	T	exonic	LRIT2	.	nonsynonymous SNV	LRIT2:NM_001017924:exon2:c.T887A:p.F296Y,LRIT2:NM_001284223:exon2:c.T887A:p.F296Y	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0110556884717	.	0.000199681	0.0004	0	0	0.0048	0	0	0	0	0.0002717	42	154602	rs557065277	0.0001	0.0001	0.0001	0.0001	0.0040	9.764e-05	9.24e-05	0.0035	0.0033	0	0	0	0.0040	0	0	2.703e-06	3.322e-05	0	5.251e-05	5.905e-05	3.854e-05	6.712e-05	0.0015	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.029	0.45756	D	0.122	0.35710	T	1.0	0.90584	D	0.989	0.78396	D	0.000116	0.50451	D	0.211530	0.999955	0.52396	D	1.75	0.45442	L	0.15	0.60734	T	-0.95	0.25332	N	0.568	0.59138	-0.6623	0.62175	T	0.289	0.66045	T	10	0.0129951835	0.00277	T	0.011056	0.28291	T	0.222	0.51872	0.591	0.71999	0.558735321446	0.55534	0.49060486321878705	0.48980	0.0241015122764	0.02450	0.614830672741	0.54998	T	0.003983	0.03393	T	-0.338519	0.05491	T	-0.260191	0.48807	T	0.151612971201699	0.17231	T	0.271373	0.12411	T	0.11188964	0.26437	0.11746	0.28354	0.11188964	0.26437	0.11746	0.28353	-3.709	0.19451	T	.	.	0.189	0.53119	B	.;.	.;.	3.962582	0.58130	23.9	0.99466629672916873	0.66102	0.11695	0.16802	N	AEFBCI	0.532168	0.55214	D	0.478873015916566	0.65858	4.876	0.472020806404529	0.66142	4.913805	0.0023770170942358	0.09366	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	5.76	4.6	0.56512	4.656000	0.61178	8.704000	0.78116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8611:0.0:0.0:0.1389	11.109	0.47439	928	0.17405	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1134.33	34	chr10	84224338	.	A	T	1134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.775;DP=722;ExcessHet=0;FS=8.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.792;SOR=1.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr10	84425809	84425809	C	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon2:c.C65T:p.P22L,CCSER2:NM_001284243:exon2:c.C65T:p.P22L,CCSER2:NM_001284240:exon5:c.C1784T:p.P595L,CCSER2:NM_001351290:exon5:c.C1784T:p.P595L,CCSER2:NM_001351292:exon5:c.C1784T:p.P595L,CCSER2:NM_018999:exon5:c.C1784T:p.P595L	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	7.7e-05	0.0081869	0.0039	0	0	0	0	6.001e-05	0.0022	0.0284	0.003454	534	154602	rs368729802	0.0017	0.0017	0.0009	0.0024	0.0270	0.0016	0.0016	0.0261	0.0257	0	0	0	5.04e-05	0	0.0012	1.169e-05	0.0018	0.0270	0.0010	0.0010	0.0005	0.0015	0.0309	0.0009	0.0008	0.0269	0.0253	4.816e-05	0	0	0	0	0	0	1.47e-05	0	0.0309	0.028	0.46129	D	0.218	0.31936	T	0.649	0.40609	P	0.295	0.40843	B	0.089383	0.20430	N	0.508951	0.999991	0.58761	D	1.39	0.34934	L	2.27	0.22067	T	-1.57	0.46842	N	0.468	0.55626	-1.1337	0.01613	T	0.051	0.21844	T	10	0.0031134784	0.00052	T	.	.	.	0.125	0.34456	.	.	0.21737058555	0.21362	0.09618620014000735	0.09550	0.277704376549	0.30248	0.365793049335	0.20226	T	0.003654	0.03060	T	-0.43494	0.01385	T	-0.377265	0.36041	T	0.0253532049821524	0.01319	T	0.940906	0.80969	D	0.08812835	0.20549	0.09275834	0.21876	0.08812835	0.20548	0.09275834	0.21875	-4.939	0.45247	T	.	.	0.086	0.21913	B	.;.;.;.;.	.;.;.;.;.	3.819130	0.55138	23.6	0.99767261433712595	0.85583	0.73992	0.36191	D	AEFDBI	0.321717	0.42443	N	0.112789645086986	0.47058	2.936959	0.270157606195535	0.53806	3.547696	0.999999999798317	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631177	0.49321	0	.	.	6.07	6.07	0.98675	2.734000	0.47041	5.941000	0.51480	0.599000	0.40250	0.842000	0.30316	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.138	0.89555	967	0.07127	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1026.33	34	chr10	84425809	.	C	T	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.587;DP=743;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.153;SOR=0.795	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1286	18	0	1	0
chr10	84513830	84513830	G	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon7:c.G988T:p.V330F,CCSER2:NM_001284240:exon10:c.G2707T:p.V903F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00658158728732	.	0.00119808	0.0017	0	0	0	0	0	0	0.0034	0.0002329	36	154602	rs565373126	0.0003	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0039	0.0038	3.165e-05	0	0	2.798e-05	0	0	0	0.0002	0.0043	0.0002	0.0002	8.993e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	0	0	0.0054	0.055	0.38407	T	0.058	0.46182	T	0.773	0.44016	P	0.428	0.45338	B	.	.	.	.	1	0.24600	N	.	.	.	1.93	0.22881	T	-1.13	0.29114	N	0.283	0.32037	-1.0789	0.07563	T	0.077	0.30737	T	8	0.0066339076	0.00150	T	0.006582	0.17358	T	0.077	0.22490	0.09	0.01023	0.530160902827	0.52664	0.20552117678006387	0.20469	.	.	.	.	.	.	.	.	-0.499986	0.00572	T	-0.492445	0.23134	T	0.0522106903771824	0.05884	T	0.738626	0.35686	T	.	.	.	.	.	.	.	.	-3.445	0.15670	T	.	.	0.120	0.24700	B	.;.	.;.	2.454628	0.31615	18.79	0.98083778074135952	0.38133	0.76242	0.37378	D	AEFDGBCI	0.115547	0.22715	N	-0.0986822497817135	0.37449	2.178968	-0.0818022311187711	0.36142	2.099625	0.47213558986936	0.20716	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.04	4.21	0.48984	1.553000	0.35862	1.252000	0.25176	-0.106000	0.15538	0.999000	0.42656	0.693000	0.26187	0.995000	0.73285	0.1514:0.0:0.8486:0.0	10.905	0.46286	947	0.11584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4448.83	33	chr10	84513830	.	G	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.383;DP=994;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.808;SOR=0.691	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1414	17	0	2	0
chr10	86517700	86517700	C	A	exonic	WAPL	.	nonsynonymous SNV	WAPL:NM_001318328:exon2:c.G370T:p.V124F,WAPL:NM_015045:exon2:c.G370T:p.V124F	.	437	607	381	87	10	565	0.313737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00710336334223	.	0.000599042	0.0012	0	0.0051	0	0	0.0009	0.0044	0.0014	0.0010414	161	154602	rs10887621	0.0006	0.0006	0.0006	0.0007	0.0061	0.0006	0.0006	0.0045	0.0039	8.961e-05	0.0026	0.0010	0	0	0.0061	0.0005	0.0010	0.0013	0.0006	0.0006	0.0006	0.0005	0.0023	0.0005	0.0004	0.0013	0.0010	2.407e-05	0	0.0008	0.0012	0.0002	0	0.0034	0.0007	0.0019	0.0023	0.032	0.44694	D	0.358	0.17064	T	0.031	0.20130	B	0.016	0.17743	B	0.523732	0.11713	N	0.771843	0.999889	0.19853	P	0	0.06538	N	1.94	0.22678	T	-0.45	0.14782	N	0.106	0.09066	-1.0286	0.20908	T	0.029	0.12497	T	9	0.0048210025	0.00102	T	0.007103	0.18814	T	0.033	0.08068	.	.	0.043077524339	0.03247	0.20781201590510412	0.20697	0.234316678385	0.25967	0.264722645283	0.05466	T	0.079308	0.36097	T	-0.54318	0.00321	T	-0.557943	0.16570	T	0.0102015832365525	0.00138	T	0.689031	0.29821	T	0.076243564	0.17231	0.06513849	0.13157	0.076243564	0.17231	0.06513849	0.13157	-4.855	0.35225	T	.	.	0.077	0.07036	B	.;.	.;.	1.230068	0.16246	12.42	0.97331450756619264	0.33428	0.92018	0.54763	D	AEFDBI	0.210395	0.33629	N	-0.611769057180589	0.18590	0.9663508	-0.523635728070582	0.21512	1.164076	0.999950839830408	0.48110	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	1.12	0.19700	1.520000	0.35506	0.012000	0.13456	0.599000	0.40250	0.944000	0.32806	0.003000	0.18671	0.789000	0.37270	0.0:0.5265:0.0:0.4735	10.075	0.41526	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	21904.0	156	chr10	86517700	.	C	A	21904.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=1816;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.676;SOR=0.722	GT:AD:DP:GQ:PL	0/0:52,0:105:99:1477,1634,3107	18	0	1	0
chr10	86663717	86663717	G	A	exonic	OPN4	.	nonsynonymous SNV	OPN4:NM_033282:exon9:c.G1313A:p.R438Q,OPN4:NM_001030015:exon10:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	2389828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00380506083292	.	.	0.0002	0	0.0005	0	0	7.047e-05	0	0.0008	5.17e-05	8	154602	rs752640451	4.139e-05	4.515e-05	3.194e-05	5.104e-05	0.0004	3.26e-05	2.985e-05	9.822e-05	7.148e-05	9.214e-05	0.0002	0	0	0	0.0004	2.286e-05	0.0002	0.0001	6.574e-05	6.567e-05	8.998e-05	4.037e-05	0.0002	3.518e-05	2.617e-05	5.287e-05	2.835e-05	4.831e-05	0	0.0002	0	0	0	0	7.351e-05	0	0	0.511	0.07473	T	0.583	0.12386	T	0.026	0.19406	B	0.001	0.04355	B	0.180774	0.03180	N	1.616980	1	0.08975	N	0.235	0.09667	N	1.08	0.39401	T	0.21	0.04776	N	0.056	0.05287	-1.0501	0.14369	T	0.042	0.18243	T	10	0.021891207	0.00534	T	0.003805	0.08868	T	0.013	0.01715	0.295	0.25881	0.117506650769	0.11410	0.13495371403835504	0.13419	0.057331122771	0.06345	0.200572863221	0.00474	T	0.049192	0.28234	T	-0.494835	0.00611	T	-0.663859	0.08008	T	0.00835759773208273	0.00101	T	0.614539	0.23442	T	0.024595032	0.01307	0.026670758	0.00770	0.024595032	0.01307	0.026670758	0.00770	-3.788	0.20625	T	.	.	0.067	0.03736	B	.;.;.	.;.;.	-0.096631	0.03660	0.735	0.48026680369228586	0.03974	0.01097	0.04030	N	AEFDBI	0.059784	0.11316	N	-1.47225792259379	0.02047	0.09001099	-1.48441984753018	0.02471	0.1137401	0.999907641011739	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	-3.34	0.04635	-0.431000	0.07034	-3.018000	0.03136	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.6098:0.1634:0.2268:0.0	6.440	0.21045	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1854.33	44	chr10	86663717	.	G	A	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=780;ExcessHet=0;FS=5.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.528;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.05263	1992.83	34	chr10	86687073	.	G	A	1992.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=741;ExcessHet=0.119;FS=4.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.06;SOR=0.382	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	17	0	2	0
chr10	86942561	86942561	C	G	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.G2223C:p.Q741H	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	7.7e-05	0.00299521	0.0021	0	0.0002	0	0	3.004e-05	0	0.0150	0.0017788	275	154602	rs370702596	0.0009	0.0009	0.0005	0.0013	0.0139	0.0008	0.0008	0.0133	0.0130	5.974e-05	4.472e-05	0	0	0	0.0007	7.195e-06	0.0013	0.0139	0.0006	0.0006	0.0002	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0176	0.028	0.46129	D	0.059	0.45961	T	0.694	0.41705	P	0.166	0.35067	B	0.195980	0.16723	N	0.575730	0.669275	0.30379	N	1.1	0.28011	L	2.47	0.14783	T	-1.99	0.45949	N	0.125	0.11769	-1.0785	0.07641	T	0.039	0.16892	T	10	0.0034052432	0.00060	T	.	.	.	0.103	0.29403	0.303	0.27164	0.364730456448	0.36084	0.13315211845469274	0.13239	0.228233673395	0.25376	0.27071928978	0.06235	T	0.02376	0.18078	T	-0.59589	0.00154	T	-0.616407	0.11469	T	0.0452531004255462	0.04648	T	0.377662	0.09049	T	0.15230013	0.34580	0.09240125	0.21774	0.15230013	0.34580	0.09240125	0.21774	-4.67	0.33039	T	.	.	0.237	0.47072	B	.	.	1.809946	0.23000	15.85	0.98273637571667871	0.39786	0.55518	0.29884	D	AEFDBI	0.198431	0.32529	N	-0.302185128404548	0.29064	1.608553	-0.317520196237071	0.27532	1.528435	0.9999895407173	0.51787	0.67177	0.52595	0	0.547309	0.14657	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	5.48	4.57	0.55860	0.317000	0.19235	1.428000	0.26422	0.596000	0.33519	0.001000	0.13787	0.101000	0.22673	0.044000	0.14658	0.0:0.9218:0.0:0.0782	13.458	0.60664	857	0.34089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1644.33	35	chr10	86942561	.	C	G	1644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=753;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.974;SOR=0.787	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1274	18	0	1	0
chr10	86943129	86943129	G	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.C1655A:p.A552E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0524848416747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.782499	0.06663	N	1.121610	1	0.08975	N	0.255	0.09829	N	-0.44	0.69777	T	-0.22	0.10480	N	0.091	0.06990	-1.0472	0.15188	T	0.073	0.29707	T	10	0.033834755	0.01571	T	0.052485	0.65089	D	0.073	0.21317	0.273	0.22369	0.332646915603	0.32870	0.1954518376935963	0.19462	1.3103030877	0.83193	0.487660467625	0.37114	T	0.002132	0.01537	T	-0.23833	0.15562	T	-0.580121	0.14534	T	0.0666363292919281	0.08170	T	0.424958	0.11391	T	0.04984918	0.08915	0.061138436	0.11758	0.04984918	0.08915	0.061138436	0.11758	-3.449	0.15725	T	.	.	0.091	0.13032	B	.	.	-0.637114	0.01473	0.091	0.55936671234171154	0.05446	0.03023	0.07902	N	AEFBI	0.056763	0.10518	N	-2.34600312138007	0.00036	0.001538505	-2.39863401689295	0.00039	0.001737792	0.999999991307449	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.685742	0.62368	0	0.714379	0.83352	0	.	.	5.35	-10.7	0.00191	-0.462000	0.06781	-0.808000	0.07346	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.190000	0.21601	0.1179:0.1883:0.2929:0.4009	3.161	0.06131	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1322.33	46	chr10	86943129	.	G	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.31;DP=724;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.571;SOR=0.933	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1164	18	0	1	0
chr10	86943975	86943975	C	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.G809A:p.R270H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0007	0.0165735	0.0117	0.0014	0.0929	0.0293	0	0.0002	0.0122	0.0030	0.0111124	1718	154602	rs79370279	0.0039	0.0039	0.0043	0.0035	0.0857	0.0038	0.0038	0.0834	0.0825	0.0008	0.0857	0.0010	0.0297	3.751e-05	0.0003	9.442e-05	0.0036	0.0035	0.0057	0.0057	0.0052	0.0062	0.0394	0.0053	0.0052	0.0368	0.0358	0.0013	0	0.0394	0.0026	0.0295	0	0	0.0001	0.0061	0.0046	0.142	0.25457	T	0.168	0.30631	T	0.399	0.34817	B	0.045	0.24526	B	0.032632	0.25003	N	0.275088	1	0.08975	N	1.875	0.49914	L	1.74	0.26301	T	-2.17	0.49018	N	0.02	0.00308	-1.0486	0.14790	T	0.005	0.01761	T	10	0.0012760162	0.00014	T	.	.	.	0.014	0.01968	.	.	.	.	0.13091586771026503	0.13016	0.191107692456	0.21433	0.202728748322	0.00540	T	0.025512	0.28267	T	-0.697649	0.00038	T	-0.706357	0.05485	T	0.00220888174829873	0.00023	T	0.733627	0.34942	T	0.026193654	0.01647	0.038141362	0.03619	0.026193654	0.01646	0.038141362	0.03619	-5.83	0.44835	T	.	.	0.077	0.09385	B	.;.;.	.;.;.	0.570024	0.09383	6.166	0.96892145984026967	0.31504	0.07956	0.13940	N	AEFBCI	0.078683	0.15880	N	-1.02135040340029	0.08161	0.3817063	-1.04786421190714	0.08752	0.4318221	0.990600788575859	0.32208	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.19	0.593	0.16660	-0.203000	0.09440	-1.571000	0.05146	-0.182000	0.10109	0.003000	0.16062	0.000000	0.08366	0.785000	0.37106	0.1312:0.4309:0.0:0.4378	5.230	0.14738	863	0.32847	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1830.33	40	chr10	86943975	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=812;ExcessHet=0;FS=4.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.202;SOR=0.842	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1164	18	0	1	0
chr10	87020355	87020355	G	T	exonic	FAM25A	.	stopgain	FAM25A:NM_001146157:exon1:c.G31T:p.E11X	.	898	620	3	1	0	5	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0207668	0.0050	0.0013	0.0581	0.0452	0	0.0003	0.0243	0.0044	0.0025032	387	154602	rs183710110	0.0038	0.0037	0.0040	0.0037	0.0784	0.0038	0.0037	0.0759	0.0750	0.0011	0.0784	0.0005	0.0503	8.125e-05	0.0015	0.0001	0.0047	0.0040	0.0064	0.0064	0.0060	0.0068	0.0459	0.0060	0.0059	0.0411	0.0392	0.0014	0	0.0407	0.0014	0.0459	9.414e-05	0	0.0001	0.0071	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.001477	0.38917	N	0.113681	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.138216	0.30175	T	0.0912172	0.76327	D	0.0711016177321131	0.08804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.631323	0.96710	36	0.98671876216155796	0.44484	0.50104	0.28586	D	AEFBI	0.078178	0.15769	N	0.0965991813669042	0.46304	2.872814	-0.200499002657013	0.31518	1.784525	9.51170337836964E-4	0.08054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	2.4	0.28568	2.154000	0.41917	9.769000	0.81545	-0.135000	0.12811	0.985000	0.35982	1.000000	0.68203	0.004000	0.06068	0.1056:0.0:0.8944:0.0	10.469	0.43808	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001152	0.000000	0.000000	0.000000	0.000000	0.000000	0.005682	0.000000	0.02632	243.33	30	chr10	87020355	.	G	T	243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.622;SOR=1.085	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	18	0	1	0
chr10	87094666	87094666	C	T	exonic	GLUD1	.	nonsynonymous SNV	GLUD1:NM_005271:exon1:c.G104A:p.G35E	Hyperinsulinism-hyperammonemia syndrome, Autosomal dominant	2	1517	3	0	0	3	0.000987817	.	.	.	311503	Monogenic_diabetes|Hyperinsulinism-hyperammonemia_syndrome|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011717,MedGen:C1847555,OMIM:606762,Orphanet:35878|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.583	.	.	0.00279553	0.0037	0	0.0004	0	0	3.502e-05	0	0.0178	0.0015977	247	154602	rs552066337	0.0009	0.0009	0.0005	0.0013	0.0141	0.0008	0.0008	0.0134	0.0131	6.258e-05	5.174e-05	0	0	0	0.0002	6.435e-06	0.0012	0.0141	0.0005	0.0005	0.0002	0.0009	0.0160	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0	0	0	1.475e-05	0.0005	0.0160	0.2	0.20381	T	0.133	0.34359	T	0.0	0.02946	B	0.001	0.04355	B	0.000939	0.41028	U	0.153194	0.919318	0.27330	N	0	0.06538	N	-4.02	0.96402	D	0.25	0.04456	N	0.399	0.43995	-0.1819	0.78133	T	0.650	0.87823	D	10	0.005878955	0.00132	T	.	.	.	0.583	0.83249	0.184	0.09259	0.939638754279	0.93900	0.5743792988521871	0.57366	1.45827535514	0.86294	0.841141343117	0.88268	D	0.220334	0.58359	T	-0.193088	0.21805	T	-0.0371598	0.67893	D	0.0257560539475116	0.01373	T	0.748325	0.36895	T	0.05232429	0.09742	0.11640203	0.28099	0.06651624	0.14318	0.09576285	0.22724	-5.925	0.45647	T	.	.	0.137	0.29806	B	.	.	2.692339	0.35150	19.82	0.9415303313019503	0.24353	0.12410	0.17252	N	AEFDGBHCI	0.073998	0.14818	N	-0.780528424652102	0.13817	0.6835145	-0.703221287123317	0.16881	0.8950581	0.999999999955945	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.65	2.71	0.31092	-0.040000	0.12056	1.382000	0.26043	-0.355000	0.05542	0.035000	0.20724	0.689000	0.26165	0.022000	0.11911	0.0:0.6523:0.2253:0.1223	4.819	0.12745	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002548	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.02632	1344.33	40	chr10	87094666	.	C	T	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.485;DP=734;ExcessHet=0;FS=5.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.297;SOR=0.913	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1337	18	0	1	0
chr10	87158132	87158132	A	G	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377158:exon3:c.A1610G:p.Y537C,SHLD2:NM_001330112:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377161:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377163:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377166:exon4:c.A563G:p.Y188C,SHLD2:NM_001377169:exon4:c.A563G:p.Y188C,SHLD2:NM_001377170:exon4:c.A206G:p.Y69C,SHLD2:NM_001377171:exon4:c.A563G:p.Y188C,SHLD2:NM_001377172:exon4:c.A563G:p.Y188C,SHLD2:NM_019054:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377159:exon5:c.A1610G:p.Y537C,SHLD2:NM_001377160:exon5:c.A1754G:p.Y585C,SHLD2:NM_001377167:exon5:c.A563G:p.Y188C,SHLD2:NM_001377168:exon5:c.A563G:p.Y188C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0187426667437	0.0006	0.00219649	0.0003	0.0030	0	0	0	0	0	0	0.0002458	38	154602	rs146657981	8.5e-05	8.619e-05	8.866e-05	8.13e-05	0.0029	7.223e-05	6.81e-05	0.0024	0.0023	0.0029	2.238e-05	0	0	0	0.0005	0	0.0003	9.293e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0001	0	0	0	0	0	0.0005	0.0006	0.198	0.23271	T	0.143	0.33219	T	0.046	0.21875	B	0.019	0.18783	B	0.158030	0.17752	U	0.506557	0.709361	0.30028	N	.	.	.	-0.07	0.63738	T	-2.1	0.47852	N	0.447	0.48504	-1.0277	0.21200	T	0.051	0.21495	T	10	0.008651972	0.00196	T	0.018743	0.40901	T	0.195	0.47612	.	.	0.591260992463	0.58802	0.5553409401039047	0.55461	0.807762257892	0.66579	0.38012945652	0.22275	T	0.006969	0.06393	T	-0.357996	0.04244	T	-0.29194	0.45571	T	0.0164517690043455	0.00411	T	0.792521	0.49049	T	0.09205017	0.21584	0.10484334	0.25189	0.09205017	0.21584	0.10484334	0.25189	-3.535	0.16926	T	.	.	0.09	0.12607	B	.;.	.;.	2.188226	0.27896	17.62	0.98646983584494907	0.44137	0.36714	0.25597	N	AEFBI	0.083825	0.16985	N	-0.522601451431109	0.21351	1.132419	-0.473801708609597	0.22879	1.244867	1.02060797818286E-5	0.01202	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.47	1.1	0.19578	1.902000	0.39479	6.851000	0.56739	0.684000	0.82519	0.988000	0.36536	1.000000	0.68203	0.996000	0.76049	0.5726:0.0:0.2183:0.2091	2.719	0.04875	937	0.14592	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1708.33	35	chr10	87158132	.	A	G	1708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=779;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.46;MQRankSum=-0.549;QD=11.09;ReadPosRankSum=-1.507;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1361	18	0	1	0
chr10	87176038	87176038	G	A	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377162:exon5:c.G2005A:p.A669T,SHLD2:NM_001330112:exon7:c.G2113A:p.A705T,SHLD2:NM_001377161:exon7:c.G2113A:p.A705T,SHLD2:NM_001377163:exon7:c.G2113A:p.A705T,SHLD2:NM_001377166:exon7:c.G1066A:p.A356T,SHLD2:NM_001377169:exon7:c.G1066A:p.A356T,SHLD2:NM_001377170:exon7:c.G709A:p.A237T,SHLD2:NM_001377167:exon8:c.G1066A:p.A356T,SHLD2:NM_001377168:exon8:c.G1066A:p.A356T,SHLD2:NM_001377171:exon8:c.G1162A:p.A388T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.0061901	0.0015	0.0265	0	0	0	0	0	0	0.0003881	60	154602	rs193279383	0.0005	0.0005	0.0006	0.0004	0.0203	0.0005	0.0005	0.0190	0.0185	0.0203	0.0007	0	0	0	0	1.298e-05	0.0010	3.791e-05	0.0062	0.0062	0.0065	0.0059	0.0218	0.0059	0.0057	0.0206	0.0201	0.0218	0	0.0019	0	0	0	0	4.411e-05	0.0038	0	0.807	0.03060	T	1.0	0.01155	T	.	.	.	.	.	.	0.127002	0.02775	N	1.774190	1	0.08975	N	.	.	.	-0.0	0.62608	T	0.43	0.03297	N	0.055	0.02658	-1.0219	0.23096	T	0.018	0.07518	T	9	0.0034383237	0.00060	T	.	.	.	0.022	0.04323	.	.	0.241078983079	0.23725	0.19321126284434711	0.19239	.	.	.	.	.	.	.	.	-0.564016	0.00240	T	-0.564693	0.15938	T	0.00195258083271977	0.00020	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-3.419	0.15313	T	.	.	0.063	0.01512	B	.	.	-1.129498	0.00606	0.016	0.27090412515072054	0.01328	0.00492	0.02329	N	AEFI	0.025839	0.01838	N	-1.04283192472663	0.07729	0.3600254	-1.24260583001009	0.05241	0.2492717	9.99884321858291E-4	0.08103	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.4	-5.03	0.02751	-1.347000	0.02739	-0.110000	0.11840	-1.656000	0.00819	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3096:0.2705:0.4199:0.0	7.582	0.27137	924	0.18029	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1075.33	34	chr10	87176038	.	G	A	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.977;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.36;MQRankSum=-2.556;QD=11.32;ReadPosRankSum=-0.518;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1015	18	0	1	0
chr10	87180141	87180141	C	T	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377164:exon5:c.C1922T:p.A641V,SHLD2:NM_001377158:exon6:c.C2030T:p.A677V,SHLD2:NM_001377162:exon6:c.C2129T:p.A710V,SHLD2:NM_001377165:exon6:c.C1922T:p.A641V,SHLD2:NM_001377172:exon7:c.C983T:p.A328V,SHLD2:NM_019054:exon7:c.C2030T:p.A677V,SHLD2:NM_001330112:exon8:c.C2237T:p.A746V,SHLD2:NM_001377159:exon8:c.C2030T:p.A677V,SHLD2:NM_001377160:exon8:c.C2174T:p.A725V,SHLD2:NM_001377161:exon8:c.C2186T:p.A729V,SHLD2:NM_001377166:exon8:c.C1190T:p.A397V,SHLD2:NM_001377169:exon8:c.C1190T:p.A397V,SHLD2:NM_001377170:exon8:c.C833T:p.A278V,SHLD2:NM_001377167:exon9:c.C1190T:p.A397V,SHLD2:NM_001377168:exon9:c.C1190T:p.A397V,SHLD2:NM_001377171:exon9:c.C1286T:p.A429V	.	440	1062	20	0	0	20	0.00932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0003	0.0385383	0.0168	0.0006	0.0010	0.0493	0	0.0003	0.0099	0.0946	0.0149739	2315	154602	rs77534648	0.0072	0.0072	0.0047	0.0098	0.0936	0.0071	0.0071	0.0919	0.0912	0.0004	0.0003	0.0006	0.0421	0	0.0073	0.0002	0.0089	0.0936	0.0053	0.0053	0.0035	0.0072	0.1078	0.0050	0.0049	0.1001	0.0971	0.0005	0	0.0001	0.0009	0.0453	9.436e-05	0	0.0003	0.0014	0.1078	0.784	0.08042	T	0.996	0.02742	T	0.216	0.30161	B	0.014	0.16862	B	0.714174	0.09989	N	0.866184	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.96	0.25551	N	0.028	0.00618	-1.0686	0.09723	T	0.011	0.04321	T	10	0.0014247596	0.00015	T	.	.	.	0.042	0.11227	.	.	.	.	0.22500873290150492	0.22415	0.476320769534	0.46769	0.261501252651	0.05071	T	0.008864	0.08111	T	-0.525823	0.00407	T	-0.455126	0.27132	T	0.000788767114615013	0.00007	T	0.605339	0.22755	T	0.023288848	0.01056	0.029192142	0.01231	0.023288848	0.01055	0.029192142	0.01230	-2.61	0.25833	T	.	.	0.091	0.13268	B	.;.	.;.	0.506344	0.08752	5.528	0.45179393241677251	0.03527	0.00793	0.03241	N	AEFI	0.038141	0.05353	N	-1.46720333129378	0.02085	0.09170864	-1.46741997410701	0.02616	0.1206259	2.54830759139193E-5	0.03498	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.87	-3.05	0.05069	-0.016000	0.12550	-0.682000	0.07881	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.0:0.1741:0.165:0.6609	6.019	0.18845	908	0.22609	Protein FAM35A, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010404	0.000000	0.000000	0.026786	0.000000	0.000000	0.000000	0.034188	0.02632	1321.33	110	chr10	87180141	.	C	T	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=729;ExcessHet=0;FS=1.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.93;MQRankSum=0.481;QD=12.01;ReadPosRankSum=1.92;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	0	1	0
chr10	87228559	87228559	G	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.G679A:p.A227T	.	.	.	.	.	.	.	.	.	.	.	3570172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00143511593351	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199718151	7.447e-05	0.0004	6.994e-05	7.905e-05	0.0005	6.298e-05	5.854e-05	0.0003	0.0002	0.0005	0.0001	3.877e-05	2.522e-05	7.619e-05	0	5.248e-05	0.0002	0.0001	4.63e-05	0.0003	5.174e-05	4.061e-05	9.698e-05	2.122e-05	1.535e-05	3.26e-05	1.922e-05	9.698e-05	0	0	0	0	0	0	4.444e-05	0	0	0.909	0.03068	T	0.925	0.13103	T	0.036	0.20732	B	0.021	0.19346	B	0.763085	0.09607	N	0.883975	1	0.08975	N	.	.	.	2.02	0.21119	T	0.55	0.03352	N	0.204	0.22614	-1.0244	0.22279	T	0.064	0.26597	T	9	0.051602364	0.05066	T	0.001435	0.02139	T	0.023	0.04649	0.335	0.32329	0.147330786459	0.14319	0.04651646121981675	0.04595	.	.	0.59480881691	0.52172	T	0.001913	0.01327	T	-0.209094	0.19506	T	-0.538126	0.18480	T	0.0326954163610935	0.02420	T	0.283672	0.04999	T	0.025062783	0.01403	0.047015186	0.06680	0.025062783	0.01402	0.047015186	0.06679	-4.802	0.35925	T	.	.	0.091	0.15341	B	.;.	.;.	0.560745	0.09292	6.075	0.8527049045715942	0.15789	0.00295	0.01577	N	AEFI	0.020468	0.00811	N	-0.614519648228761	0.18506	0.9614216	-0.819970716240098	0.14012	0.7299452	2.7853756831137E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.303000	0.18965	-20.000000	0.00162	0.380000	0.20399	0.051000	0.21449	0.000000	0.08366	0.022000	0.11911	0.0:0.0:1.0:0.0	6.136	0.19451	925	0.17918	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	106.34	19	chr10	87228559	.	G	A	106.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.242;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=27.84;MQRankSum=0.538;QD=10.63;ReadPosRankSum=-2.369;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:42:.:.:0,42,630:.	18	0	1	0
chr10	87228565	87228565	C	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.C685A:p.L229I	.	.	.	.	.	.	.	.	.	.	.	3352604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00338545348953	.	0.000399361	0.0003	0	0	0	0	0.0005	0	0	0.0001537	4	26028	rs571729371	0.0002	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0009	0.0001	0.0002	0.0006	0	5.705e-05	0.0007	0.0002	0.0002	0.0011	0.0002	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	4.826e-05	0	0.0003	0.0003	0	0.0002	0	0.0004	0.0005	0.0002	0.104	0.33254	T	0.155	0.31936	T	0.998	0.73220	D	0.984	0.76113	D	0.384561	0.13342	N	0.679458	1	0.08975	N	.	.	.	1.17	0.37910	T	-1.12	0.30346	N	0.243	0.27673	-0.8499	0.51975	T	0.174	0.51722	T	10	0.05296117	0.05411	T	0.003385	0.07572	T	0.061	0.17616	0.465	0.53566	0.082315109003	0.07666	0.03720928003572096	0.03667	.	.	0.586626172066	0.51019	T	0.030055	0.21393	T	-0.405378	0.02134	T	-0.515526	0.20750	T	0.022290300577879	0.00942	T	0.824917	0.48720	T	0.05130267	0.09400	0.05058444	0.07968	0.05130267	0.09400	0.05058444	0.07967	-5.623	0.43002	T	.	.	0.122	0.25429	B	.;.	.;.	1.647449	0.21022	15.02	0.97948284953650955	0.37085	0.00163	0.00971	N	AEFI	0.024206	0.01462	N	-0.673179610827665	0.16788	0.8584198	-0.953942807596944	0.10831	0.5481123	1.45283994113355E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	-1.35	0.08638	0.382000	0.20364	-3.613000	0.02657	0.343000	0.19815	0.016000	0.19238	0.000000	0.08366	0.012000	0.09680	0.0:0.4223:0.5777:0.0	6.832	0.23098	925	0.17918	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003916	0.000000	0.001449	0.009901	0.000000	0.000000	0.008850	0.009091	0.02632	148.36	16	chr10	87228565	.	C	A	148.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=501;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.026;MQ=35.13;MQRankSum=-0.289;QD=6.74;ReadPosRankSum=-0.953;SOR=3.477	GT:AD:DP:GQ:PL	0/0:15,0:15:39:0,39,585	18	0	1	0
chr10	87232887	87232887	G	C	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.G1636C:p.E546Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00513057634404	.	0.00239617	0.0013	0.0069	0	0	0	0	0	0	0.0006531	17	26028	rs2767117	0.0009	0.0012	0.0011	0.0007	0.0282	0.0008	0.0008	0.0266	0.0260	0.0282	0.0012	0	0	0	0.0011	1.531e-05	0.0020	0.0002	0.0094	0.0093	0.0093	0.0096	0.0314	0.0090	0.0088	0.0300	0.0294	0.0314	0	0.0024	0	0	0	0	3.348e-05	0.0092	0.0007	0.27	0.16038	T	0.275	0.22016	T	0.86	0.47373	P	0.551	0.49270	P	0.009155	0.01231	N	2.599710	1	0.08975	N	.	.	.	2.67	0.24085	T	-1.12	0.28906	N	0.049	0.02088	-0.9985	0.30339	T	0.090	0.34683	T	10	0.01280731	0.00274	T	0.005131	0.13032	T	0.128	0.35103	.	.	0.0934897674506	0.08844	0.0315000983389571	0.03099	.	.	0.522695422173	0.42006	T	0.006743	0.06169	T	-0.208362	0.19612	T	-0.537074	0.18585	T	0.0299554423302875	0.01982	T	0.552645	0.19087	T	0.099265106	0.23424	0.04743673	0.06833	0.099265106	0.23424	0.04743673	0.06833	-4.869	0.36414	T	.	.	0.108	0.21428	B	.;.	.;.	0.789012	0.11595	8.184	0.89125965080290714	0.18532	0.00155	0.00932	N	AEFI	0.028496	0.02521	N	-1.16353634151907	0.05560	0.253816	-1.3713855326731	0.03560	0.1663132	1.22751827298143E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.18	-0.372	0.11897	1.035000	0.29824	-3.127000	0.03038	-0.467000	0.05102	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.3941:0.0:0.6059:0.0	4.508	0.11307	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3752.07	63	chr10	87232887	.	G	C	3752.07	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=1026;ExcessHet=1.8686;FS=57.766;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=32.76;MQRankSum=-3.76;QD=7.09;ReadPosRankSum=0.594;SOR=2.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	18	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.05263	231.46	61	chr10	87232948	.	C	T	231.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.74;DP=821;ExcessHet=0.119;FS=58.684;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.053;MQ=32.07;MQRankSum=-2.052;QD=2.36;ReadPosRankSum=0;SOR=5.983	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr10	87365105	87365105	G	C	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.G1420C:p.E474Q,NUTM2D:NM_001382304:exon5:c.G1420C:p.E474Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00778754	0.0004	0.0062	0	0	0	0	0	0	0.0004398	68	154602	rs200907148	0.0004	0.0006	0.0005	0.0003	0.0126	0.0004	0.0004	0.0114	0.0110	0.0126	0.0007	0	0	0	0.0007	4.738e-06	0.0013	0.0001	0.0056	0.0080	0.0057	0.0056	0.0181	0.0052	0.0051	0.0168	0.0163	0.0181	0	0.0013	0	0	0	0	4.46e-05	0.0078	0	0.337	0.12837	T	0.311	0.19660	T	0.444	0.35956	B	0.157	0.34536	B	0.009155	0.01231	N	2.599710	1	0.08975	N	.	.	.	2.68	0.24085	T	-1.22	0.30964	N	0.043	0.01577	-1.0092	0.27167	T	0.058	0.24279	T	8	0.009392202	0.00212	T	.	.	.	0.032	0.07718	.	.	0.0920862733494	0.08535	0.02733276297380862	0.02683	2.01292625865	0.93926	0.346210986376	0.17363	T	0.006869	0.06296	T	-0.198204	0.21063	T	-0.522483	0.20042	T	0.0184227227293791	0.00559	T	0.538446	0.18722	T	0.17563723	0.38434	0.09121277	0.21433	0.17563723	0.38433	0.09121277	0.21432	-4.636	0.32621	T	.	.	0.117	0.23570	B	.;.	.;.	0.186585	0.05734	2.178	0.96095005520447674	0.28694	0.00065	0.00468	N	AEFDI	0.028842	0.02616	N	-0.792576458366037	0.13502	0.6656267	-1.02830468106168	0.09165	0.4544762	8.44236124511699E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	-0.517	0.11350	0.503000	0.22318	-4.986000	0.01898	-0.943000	0.02073	0.001000	0.13787	0.000000	0.08366	0.037000	0.13953	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	560.65	10	chr10	87365105	.	G	C	560.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.88;DP=359;ExcessHet=0.0027;FS=0;InbreedingCoeff=0.5693;MLEAC=1;MLEAF=0.031;MQ=36.47;MQRankSum=0.674;QD=21.56;ReadPosRankSum=-0.1;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	15	0	1	3
chr10	87365166	87365166	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.C1481T:p.T494I,NUTM2D:NM_001382304:exon5:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00223446415924	.	.	0.0002	0.0005	0	0	0	9.204e-05	0	0.0007	3.84e-05	1	26028	rs202099769	0.0009	0.0011	0.0008	0.0011	0.0049	0.0009	0.0009	0.0043	0.0041	0.0009	0.0017	0	0.0049	0.0005	0.0008	0.0006	0.0014	0.0034	0.0020	0.0027	0.0019	0.0021	0.0046	0.0018	0.0017	0.0027	0.0022	0.0017	0	0.0030	0.0003	0.0046	0.0005	0	0.0020	0.0049	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.41	0.14160	T	3.87	0.00062	N	0.08	0.05542	-0.9422	0.42266	T	0.012	0.04463	T	8	0.0038974881	0.00074	T	0.002234	0.04233	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.011141069843574544	0.01074	1.9025247855	0.92838	0.515417873859	0.40981	T	0.002252	0.01652	T	-0.226986	0.17050	T	-0.563826	0.16018	T	0.00121378364001231	0.00012	T	0.040196	0.00279	T	0.02891686	0.02304	0.06176681	0.11979	0.02891686	0.02303	0.06176681	0.11978	3.989	0.00009	T	.	.	0.054	0.00309	B	.;.	.;.	-0.802459	0.01102	0.050	0.076090067256528657	0.00046	0.00006	0.00120	N	AEFDI	0.015293	0.00284	N	-1.43597596059633	0.02329	0.1027233	-1.48379537463369	0.02477	0.1139815	8.70893701370907E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	0.628	0.16854	0.233000	0.17689	-0.954000	0.06803	-0.920000	0.02202	0.019000	0.19563	0.000000	0.08366	0.578000	0.30845	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	68.43	17	chr10	87365166	.	C	T	68.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=36.33;MQRankSum=-0.61;QD=6.84;ReadPosRankSum=-0.319;SOR=0.223	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1163	18	0	1	0
chr10	87366191	87366191	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.C1688T:p.A563V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00162915554247	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1342539754	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	3.032e-05	0.0012	0.0002	0	0	0.0012	0.0002	0.0006	0.0009	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0.0002	0.0005	0.0004	2.408e-05	0	0.0004	0.0006	0.0002	0	0	0.0003	0.0005	0.0012	0.021	0.49117	D	0.036	0.52060	D	0.999	0.77913	D	0.996	0.84481	D	0.460012	0.04864	N	1.338220	1	0.08975	N	.	.	.	2.61	0.13095	T	-1.54	0.37375	N	0.114	0.10198	-1.0546	0.13145	T	0.076	0.30645	T	9	0.058535308	0.06896	T	0.001629	0.02651	T	0.036	0.09122	0.195	0.10705	0.104622674875	0.10061	0.03356196647397593	0.03304	.	.	0.489005476236	0.37300	T	0.006224	0.05657	T	-0.530893	0.00379	T	-0.575901	0.14912	T	0.0247741149562659	0.01243	T	0.633837	0.24812	T	0.05832363	0.11719	0.05471833	0.09465	0.05832363	0.11718	0.05471833	0.09464	-4.808	0.34685	T	.	.	0.113	0.22135	B	.	.	1.342709	0.17492	13.20	0.98649007416547863	0.44164	0.00285	0.01534	N	AEFI	0.032504	0.03686	N	-0.476410358616523	0.22855	1.223322	-0.796127969492663	0.14590	0.7631096	1.1011291573608E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-0.0866	0.13015	0.139000	0.15858	-1.127000	0.06250	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6539:0.0:0.3461	3.079	0.05878	681	0.59854	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	160	chr10	87366191	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=991;ExcessHet=0;FS=5.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.14;MQRankSum=-2.24;QD=3.58;ReadPosRankSum=0.003;SOR=0.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1387	18	0	1	0
chr10	87366286	87366286	G	C	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.G1783C:p.V595L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0037	0.0233	0	0	0	0	0	0	0.0001229	19	154602	rs773299330	0.0003	0.0005	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0004	0	0	0	0.0004	7.196e-06	0.0008	9.279e-05	0.0037	0.0053	0.0039	0.0035	0.0132	0.0034	0.0033	0.0122	0.0119	0.0132	0	0.0008	0	0	0	0	0	0.0014	0.0002	0.214	0.19361	T	0.456	0.12740	T	0.307	0.32716	B	0.03	0.21741	B	0.592695	0.05601	N	1.252190	1	0.08975	N	.	.	.	2.43	0.15261	T	-1.08	0.28084	N	0.105	0.08925	-1.0165	0.24852	T	0.022	0.09238	T	9	0.0055312216	0.00122	T	.	.	.	0.099	0.28413	.	.	0.0401082797425	0.02173	0.06507810806808279	0.06446	.	.	0.512233614922	0.40534	T	0.014054	0.12038	T	-0.562696	0.00245	T	-0.568077	0.15627	T	0.00208174931440979	0.00021	T	0.565243	0.19970	T	0.057399888	0.11417	0.04095589	0.04546	0.057399888	0.11417	0.04095589	0.04546	-2.978	0.09946	T	.	.	0.181	0.39356	B	.	.	1.106038	0.14907	11.43	0.57980491321951788	0.05889	0.00290	0.01555	N	AEFI	0.029279	0.02734	N	-1.33210717288695	0.03314	0.1478175	-1.5077068026954	0.02284	0.1048168	2.17238471373571E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-1.84	0.07387	0.153000	0.16140	-3.757000	0.02557	0.241000	0.18245	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.2445:0.0:0.4421:0.3134	1.849	0.02972	681	0.59854	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1080.33	160	chr10	87366286	.	G	C	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=1085;ExcessHet=0;FS=1.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.92;MQRankSum=-2.358;QD=3.91;ReadPosRankSum=-1.229;SOR=0.584	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1387	18	0	1	0
chr10	87366360	87366360	G	A	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.G1857A:p.M619I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	.	0.0030	0.0161	0	0	0	0	0	0	0.0001153	3	26028	rs760629524	0.0004	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0153	0.0148	0.0164	0.0005	0	0	0	0.0005	8.246e-06	0.0010	0.0001	0.0048	0.0053	0.0050	0.0045	0.0169	0.0045	0.0044	0.0159	0.0154	0.0169	0	0.0010	0	0	0	0	0	0.0029	0.0006	0.144	0.25255	T	0.288	0.21144	T	0.002	0.09854	B	0.001	0.04355	B	0.397677	0.04515	N	1.462170	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.37	0.13226	N	0.113	0.10056	-0.9710	0.36988	T	0.017	0.06855	T	8	0.0053304136	0.00117	T	.	.	.	0.018	0.03083	0.177	0.08379	0.0611884634855	0.05136	0.05053819543758467	0.04996	.	.	0.541653752327	0.44680	T	0.00167	0.01102	T	-0.651535	0.00071	T	-0.695687	0.06065	T	0.000626387163128857	0.00006	T	0.547145	0.18749	T	0.09923289	0.23417	0.08134733	0.18479	0.09923289	0.23417	0.08134733	0.18478	-3.988	0.23624	T	.	.	0.376	0.58162	A	.	.	0.453688	0.08239	4.977	0.48657281574946087	0.04079	0.00538	0.02482	N	AEFI	0.026876	0.02097	N	-1.01243389889734	0.08345	0.3909616	-1.13334865069044	0.07070	0.3425755	1.79764718303329E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	0.919	0.18518	-0.118000	0.10665	-20.000000	0.00162	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.0:1.0:0.0	5.145	0.14309	680	0.59965	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	487.33	160	chr10	87366360	.	G	A	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=969;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.78;MQRankSum=0.402;QD=3.05;ReadPosRankSum=-0.068;SOR=0.992	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1387	18	0	1	0
chr10	87727343	87727343	C	T	exonic	PAPSS2	.	nonsynonymous SNV	PAPSS2:NM_004670:exon8:c.C925T:p.R309W,PAPSS2:NM_001015880:exon9:c.C940T:p.R314W	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2095945	Inborn_genetic_diseases|Spondyloepimetaphyseal_dysplasia,_PAPSS2_type	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0378238662812	.	0.000399361	0.0002	9.612e-05	8.64e-05	0.0003	0.0005	0.0003	0	0	0.0001876	29	154602	rs199576612	8.756e-05	8.756e-05	9.257e-05	8.251e-05	0.0002	7.488e-05	7.035e-05	9.929e-05	7.225e-05	0.0002	0.0001	3.826e-05	0.0002	0.0001	0.0002	8.453e-05	3.312e-05	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.574e-05	6.279e-05	6.825e-05	2.856e-05	4.814e-05	0	0.0002	0	0.0004	0.0005	0	7.351e-05	0.0005	0	0.001	0.78490	D	0.068	0.44302	T	0.999	0.77913	D	0.951	0.68939	D	0.000478	0.44119	N	0.236983	0.999779	0.48980	D	3.045	0.86684	M	1.89	0.23688	T	-6.34	0.90937	D	0.353	0.39457	-0.8445	0.52345	T	0.162	0.49698	T	10	0.18120182	0.33341	T	0.037824	0.57854	D	0.170	0.43303	.	.	0.464870050199	0.46114	0.7531503375845159	0.75262	0.208046391582	0.23274	0.364390254021	0.20024	T	0.601356	0.87228	D	-0.33724	0.05581	T	-0.413331	0.31843	T	0.652930498123169	0.38588	D	0.972428	0.90119	D	0.8634861	0.88353	0.82595026	0.89922	0.8634861	0.88354	0.82595026	0.89922	-13.546	0.91487	D	0.6140810627221669	0.68190	0.169	0.37216	B	.;.	.;.	3.741897	0.53582	23.4	0.99907417635678297	0.97801	0.57927	0.30505	D	AEFGBI	0.562378	0.56999	D	0.208017551026514	0.51586	3.338774	0.0837730646150369	0.43733	2.668988	0.00271947446220935	0.09654	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	3.8	0.42887	0.635000	0.24318	0.525000	0.19198	0.599000	0.40250	0.130000	0.23345	0.068000	0.22166	0.862000	0.40904	0.1386:0.7855:0.0:0.076	9.739	0.39575	943	0.12886	ATP-sulfurylase PUA-like domain|Sulphate adenylyltransferase|Sulphate adenylyltransferase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1356.33	33	chr10	87727343	.	C	T	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=711;ExcessHet=0;FS=2.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.818;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.02632	1328.33	34	chr10	87862043	.	A	T	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=746;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.423;SOR=0.828	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1342,0,1408	18	0	1	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.02632	1646.33	34	chr10	87862096	.	T	C	1646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=737;ExcessHet=0;FS=1.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.23;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,44:99:99:0|1:87862096_T_C:1660,0,2081:87862096	18	0	1	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.02632	1666.33	34	chr10	87862106	.	G	C	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.728;DP=737;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.424;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,45:99:99:0|1:87862096_T_C:1680,0,2068:87862096	18	0	1	0
chr10	87862403	87862403	C	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.G85A:p.G29S	Cowden syndrome 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00880886540841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230495311	5.002e-06	4.788e-06	4.23e-06	5.796e-06	6.33e-05	2.08e-06	1.34e-06	1.048e-05	3.92e-06	6.33e-05	0	0	2.798e-05	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.911	0.64720	D	.	.	.	.	0.991739	0.23991	N	0	0.06538	N	.	.	.	-4.33	0.76740	D	0.049	0.02088	-1.0331	0.19459	T	0.080	0.31735	T	7	0.12359539	0.23463	T	0.008809	0.23245	T	0.048	0.13305	0.185	0.09388	0.0401082797425	0.02173	0.007606499740980613	0.00726	.	.	0.303600847721	0.10940	T	0.048802	0.28122	T	-0.170061	0.25225	T	-0.245389	0.50271	T	0.570346092091583	0.35248	D	.	.	.	0.38359264	0.59575	0.3618863	0.61604	0.38359264	0.59575	0.3618863	0.61603	-4.017	0.24057	T	.	.	0.189	0.40666	B	.	.	1.915302	0.24327	16.35	0.99390493323630824	0.62292	0.03734	0.09030	N	ALL	0.102440	0.20549	N	-0.328275440675167	0.28078	1.54575	-0.418535085322576	0.24454	1.339136	0.999999999999997	0.74766	0.034631	0.00232	3	0.374146	0.05931	1	0.179345	0.04352	3	0.273489	0.05413	2	.	.	4.74	1.7	0.23359	-1.468000	0.02456	-1.696000	0.04897	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.494000	0.28882	0.1696:0.5021:0.3284:0.0	8.132	0.30193	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2306.33	34	chr10	87862403	.	C	T	2306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.346;DP=844;ExcessHet=0;FS=13.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.19;SOR=0.437	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1330	18	0	1	0
chr10	88726796	88726796	G	A	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon3:c.G107A:p.S36N,LIPK:NM_001378091:exon4:c.G107A:p.S36N	.	437	1084	1	0	0	1	0.000461042	0.9850	0.866	.	3211145	LIPK-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.423	0.0428262114877	0.0031	0.00139776	0.0040	0.0012	0.0024	0	0.0012	0.0063	0.0020	0.0021	0.0023221	359	154602	rs55788049	0.0033	0.0033	0.0033	0.0032	0.0038	0.0032	0.0031	0.0037	0.0037	0.0008	0.0010	0.0027	0	0.0010	0.0005	0.0038	0.0028	0.0019	0.0023	0.0023	0.0025	0.0021	0.0035	0.0021	0.0020	0.0032	0.0030	0.0005	0.0407	0.0017	0.0006	0	0.0010	0	0.0035	0.0038	0.0010	0.026	0.46910	D	0.017	0.60337	D	0.965	0.56013	D	0.796	0.58006	P	.	.	.	.	0.52164	0.31564	N	2.39	0.68882	M	-2.09	0.86077	D	-2.61	0.56144	D	0.281	0.31814	0.722	0.93443	D	0.776	0.92374	D	9	0.01268819	0.00272	T	0.042826	0.60666	D	0.423	0.73152	.	.	0.921748760112	0.92095	0.5995292426952856	0.59883	0.0298240976296	0.03070	0.502893149853	0.39231	T	0.016143	0.13402	T	-0.320338	0.06869	T	-0.227793	0.51984	T	0.031954438638417	0.02299	T	0.782722	0.41876	T	0.30203217	0.53086	0.3622778	0.61636	0.30203217	0.53086	0.3622778	0.61636	-10.106	0.74544	D	.	.	0.262	0.49702	B	.	.	4.614670	0.73217	26.0	0.99425985539533457	0.64032	0.90146	0.51096	D	AEFBI	0.424434	0.48961	N	0.649399582225773	0.76329	6.466546	0.600303123472036	0.74962	6.227231	0.0327655252735208	0.14071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	3.152000	0.50375	7.311000	0.58126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:1.0:0.0	16.116	0.81115	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1209.33	36	chr10	88726796	.	G	A	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=701;ExcessHet=0;FS=3.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.97;SOR=0.378	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr10	88752562	88752562	G	A	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon10:c.G1006A:p.A336T,LIPK:NM_001378091:exon11:c.G907A:p.A303T	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00279553	0.0017	0	0	0	0	0	0	0.0065	0.0006598	102	154602	rs371740523	0.0004	0.0004	0.0002	0.0005	0.0061	0.0003	0.0003	0.0057	0.0055	0	0	0	0	0	0.0004	2.766e-06	0.0005	0.0061	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	6.551e-05	0	0	0	0	0	0	0.0070	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.966	0.71341	D	0.006505	0.31983	N	0.221859	1	0.08975	N	2.85	0.82803	M	-0.48	0.70249	T	-3.39	0.66896	D	0.547	0.57348	-0.2985	0.75026	T	0.540	0.83046	D	10	0.0125235915	0.00269	T	.	.	.	0.388	0.70440	0.541	0.65304	0.628968807243	0.62594	0.6247982095892505	0.62412	0.0315889079074	0.03269	0.491900503635	0.37702	T	0.027576	0.20164	T	-0.254717	0.13525	T	-0.136326	0.60436	T	0.171022136939565	0.18649	T	0.918808	0.70803	D	0.622129	0.73877	0.60921067	0.77272	0.622129	0.73879	0.60921067	0.77273	-9.433	0.70442	D	.	.	0.365	0.57504	A	.	.	4.727892	0.76118	26.5	0.99876011471436232	0.95328	0.84516	0.43598	D	AEFI	0.374687	0.45950	N	0.730077141216065	0.81604	7.561365	0.645394975341225	0.78268	6.842162	0.958141646936667	0.28345	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	4.71	0.59010	5.855000	0.69252	7.511000	0.59621	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.0:0.1491:0.8509:0.0	14.134	0.64809	824	0.40336	Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.011364	0.02632	1152.33	43	chr10	88752562	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=759;ExcessHet=0;FS=4.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.31;SOR=1.27	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr10	88752692	88752692	A	T	exonic	LIPK	.	nonsynonymous SNV	LIPK:NM_001080518:exon10:c.A1136T:p.E379V,LIPK:NM_001378091:exon11:c.A1037T:p.E346V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0219310221457	.	.	0.0001	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs762923440	2.95e-05	3.283e-05	1.113e-05	4.825e-05	0.0005	2.209e-05	1.959e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.696e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.17	0.30436	T	0.001	0.07471	B	0.007	0.12992	B	0.649463	0.05915	N	1.187940	0.999999	0.08975	N	0.19	0.09125	N	0.08	0.61559	T	2.84	0.00165	N	0.187	0.20395	-1.0015	0.29488	T	0.098	0.36677	T	10	0.04684037	0.03926	T	0.021931	0.44763	T	0.065	0.18881	0.557	0.67547	0.551677396071	0.54825	0.47156892817257023	0.47075	0.00731947616063	0.00644	0.262005865574	0.05131	T	8.44E-4	0.00419	T	-0.376732	0.03266	T	-0.444775	0.28275	T	0.104754808781636	0.12871	T	0.777022	0.40965	T	0.0818497	0.18826	0.082224265	0.18749	0.0818497	0.18826	0.082224265	0.18749	-3.121	0.11539	T	.	.	0.125	0.26263	B	.	.	2.435055	0.31330	18.71	0.98176591105924516	0.38907	0.02886	0.07670	N	AEFI	0.027637	0.02294	N	-0.711961935859276	0.15684	0.7926301	-0.591436073477514	0.19714	1.059035	0.0273673869082719	0.13769	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	1.7	0.23359	2.290000	0.43193	4.153000	0.42161	0.756000	0.94297	0.034000	0.20669	0.117000	0.22861	0.933000	0.47100	0.411:0.0:0.0:0.589	9.300	0.36999	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1531.33	43	chr10	88752692	.	A	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=804;ExcessHet=0;FS=1.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.672;SOR=0.567	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr10	88770944	88770944	G	A	exonic	LIPN	.	nonsynonymous SNV	LIPN:NM_001102469:exon7:c.G772A:p.E258K	Ichthyosis, congenital, autosomal recessive 8, Autosomal recessive	10	1499	13	0	0	13	0.0043175	.	.	.	701461	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.231	.	0.0014	0.000998403	0.0030	0	0.0025	0.0015	0.0057	0.0048	0.0108	0.0005	0.0013842	214	154602	rs150167048	0.0014	0.0014	0.0014	0.0014	0.0095	0.0014	0.0013	0.0075	0.0068	0.0004	0.0006	0.0006	0.0002	0.0017	0.0095	0.0015	0.0014	0.0010	0.0015	0.0015	0.0015	0.0014	0.0024	0.0013	0.0013	0.0021	0.0020	0.0003	0	0.0007	0.0003	0.0002	0.0021	0.0102	0.0024	0.0009	0.0017	0.059	0.37536	T	0.193	0.28210	T	0.209	0.29944	B	0.041	0.23986	B	0.001031	0.40562	N	0.175952	0.992575	0.23860	N	0.93	0.23535	L	0.12	0.61089	T	-0.53	0.16393	N	0.532	0.56058	-0.9787	0.35299	T	0.118	0.41560	T	10	0.010276228	0.00229	T	.	.	.	0.231	0.53208	.	.	0.784441971529	0.78244	0.6877981859306134	0.68719	0.0670724899157	0.07489	0.523942112923	0.42182	T	0.002696	0.02085	T	-0.290291	0.09608	T	-0.194375	0.55180	T	0.0125236646394541	0.00207	T	0.676232	0.28483	T	0.14883462	0.33961	0.1462381	0.34652	0.14883462	0.33960	0.1462381	0.34651	-2.297	0.04538	T	.	.	0.161	0.35622	B	.	.	3.229852	0.44041	21.9	0.99584098895627982	0.73218	0.34985	0.25196	N	AEFBI	0.063789	0.12349	N	-0.145020732070787	0.35447	2.036138	-0.0330214957094264	0.38234	2.249653	0.954593183267811	0.28140	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	2.429000	0.44415	5.432000	0.48595	0.676000	0.76740	0.793000	0.29632	1.000000	0.68203	0.783000	0.37026	0.0962:0.0:0.9038:0.0	9.303	0.37017	835	0.38313	Alpha/beta hydrolase fold-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004049	0.000000	0.002717	0.005917	0.000000	0.000000	0.006135	0.003817	0.02632	385.33	36	chr10	88770944	.	G	A	385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.492;DP=708;ExcessHet=0;FS=1.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.099;SOR=0.856	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	18	0	1	0
chr10	89207084	89207084	C	A	exonic	CH25H	.	nonsynonymous SNV	CH25H:NM_003956:exon1:c.G209T:p.R70L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0255556221447	.	.	1.768e-05	0	0	0	0	3.174e-05	0	0	1.29e-05	2	154602	rs754946873	1.984e-05	1.984e-05	2.042e-05	1.926e-05	0.0019	1.392e-05	1.204e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.259e-05	6.624e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.098	0.30800	T	0.143	0.33219	T	0.601	0.39346	P	0.071	0.27960	B	0.003641	0.34662	N	0.250258	0.954362	0.37874	D	2.74	0.80084	M	-0.7	0.72785	T	-3.91	0.73042	D	0.351	0.39254	-0.4902	0.69001	T	0.237	0.60427	T	10	0.37685	0.53897	T	0.025556	0.48523	D	0.320	0.64215	0.535	0.64439	0.776756999272	0.77470	0.5827581332900078	0.58204	1.03671017739	0.75637	0.409693241119	0.26414	T	0.570445	0.85768	D	-0.00894121	0.50413	T	-0.186974	0.55872	T	0.964027404785156	0.66833	D	0.852415	0.53747	D	0.32794952	0.55302	0.36437735	0.61807	0.32794952	0.55302	0.36437735	0.61807	-6.879	0.53144	T	.	.	0.134	0.29004	B	.	.	4.018662	0.59339	24.1	0.99495899264780163	0.67744	0.89840	0.50569	D	ALL	0.620149	0.60532	D	0.25903966316996	0.54088	3.575247	0.343973141805969	0.58144	3.983463	0.999999990102869	0.74766	0.443343	0.08805	1	0.491552	0.07993	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	5.3	4.38	0.52019	1.998000	0.40415	3.873000	0.40198	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.961000	0.51904	0.0:0.8639:0.0:0.1361	10.901	0.46261	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2194.33	33	chr10	89207084	.	C	A	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=914;ExcessHet=0;FS=3.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.779;SOR=0.43	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	18	0	1	0
chr10	89207285	89207285	C	T	exonic	CH25H	.	nonsynonymous SNV	CH25H:NM_003956:exon1:c.G8A:p.C3Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0236378751166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.41e-06	4.788e-06	1.395e-06	1.425e-06	2.64e-05	2.3e-07	9e-08	.	.	0	0	0	2.64e-05	0	0	9.16e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.049	0.48336	D	0.0	0.02946	B	0.001	0.04355	B	0.056574	0.02087	N	1.960160	1	0.08975	N	0.665	0.16292	N	-0.43	0.69657	T	0.45	0.03191	N	0.028	0.00618	-0.9891	0.32828	T	0.172	0.51421	T	10	0.035797536	0.01846	T	0.023638	0.46609	T	0.063	0.18251	0.197	0.10975	0.0884992946249	0.08302	0.28294205647209286	0.28207	0.670847029392	0.59432	0.273569464684	0.06612	T	0.078293	0.35858	T	-0.244109	0.14829	T	-0.588422	0.13803	T	0.141884014010429	0.16436	T	0.208179	0.02493	T	0.067826234	0.14723	0.16347194	0.37920	0.067826234	0.14722	0.16347194	0.37919	-4.499	0.30876	T	.	.	0.070	0.03336	B	.	.	-0.997501	0.00775	0.025	0.7022576696982612	0.09226	0.05454	0.11332	N	AEFDGBCIJ	0.087705	0.17783	N	-1.33261883742133	0.03309	0.1475649	-1.35370576087351	0.03762	0.1761722	0.99999972460992	0.74766	0.443343	0.08805	1	0.491552	0.07993	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.82	-0.498	0.11419	-0.341000	0.07858	-1.716000	0.04859	-1.638000	0.00844	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5572:0.2346:0.2082	6.665	0.22225	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	35	chr10	89207285	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=696;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=0.994;SOR=0.903	GT:AD:DP:GQ:PL	0/1:20,31:51:99:883,0,464	18	0	1	0
chr10	89215019	89215019	T	C	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.A661G:p.T221A,LIPA:NM_000235:exon10:c.A1009G:p.T337A,LIPA:NM_001127605:exon10:c.A1009G:p.T337A	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323828	Cardiovascular_phenotype|Lysosomal_acid_lipase_deficiency|not_specified|Wolman_disease	MedGen:CN230736|MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MedGen:CN169374|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.537	0.0572465132153	.	0.00219649	0.0007	0	0	0.0094	0	0	0.0011	0.0001	0.0006533	101	154602	rs143793106	0.0004	0.0004	0.0004	0.0004	0.0130	0.0003	0.0003	0.0121	0.0117	0	0	0	0.0130	0	0	1.799e-06	0.0002	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0095	0.0003	0.0002	0.0073	0.0066	0	0	6.537e-05	0	0.0095	0	0	0	0	0	0.01	0.58626	D	0.021	0.61642	D	0.994	0.66517	D	0.973	0.72923	D	0.000001	0.84330	D	0.096626	0.999981	0.81001	D	3.48	0.92553	M	-0.71	0.72889	T	-3.73	0.70920	D	0.593	0.61256	0.166	0.85324	D	0.507	0.81459	D	10	0.014250368	0.00300	T	0.057247	0.66895	D	0.537	0.80605	.	.	0.946304326258	0.94573	0.868387896329339	0.86803	0.59109759983	0.54556	0.366829067469	0.20376	T	0.316303	0.68785	T	-0.231679	0.16426	T	-0.0977483	0.63571	T	0.17998841624722	0.19234	T	0.788221	0.44094	T	0.90280396	0.91635	0.6312283	0.78486	0.90280396	0.91636	0.6312283	0.78487	-7.959	0.61771	D	0.6286499573945256	0.69779	0.166	0.42200	B	.;.;.	.;.;.	3.575301	0.50375	22.9	0.99614450537969501	0.74992	0.94852	0.62553	D	AEFDBIJ	0.662648	0.63245	D	0.516027948278005	0.68037	5.162374	0.338640393702899	0.57825	3.949946	0.999999954642827	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	3.94	0.44807	5.201000	0.64999	6.016000	0.52721	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0785:0.0:0.9215	10.103	0.41690	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1576.33	33	chr10	89215019	.	T	C	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=764;ExcessHet=0;FS=5.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.693;SOR=0.58	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1317	18	0	1	0
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.02632	2570.33	34	chr10	89306689	.	G	C	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.028;DP=1315;ExcessHet=0;FS=2.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.543;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1090:.	18	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.05263	3721.83	34	chr10	89339709	.	G	C	3721.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.32;DP=938;ExcessHet=0.119;FS=3.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.011;SOR=0.818	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	17	0	2	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	150.82	85	chr10	89403641	.	G	C	150.82	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.958;DP=1759;ExcessHet=0.3672;FS=162.58;InbreedingCoeff=-0.2146;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.5;SOR=9.855	GT:AD:DP:GQ:PL	0/0:90,0:90:68:0,68,1646	9	0	3	7
chr10	89418032	89418032	T	A	exonic	IFIT5	.	nonsynonymous SNV	IFIT5:NM_012420:exon2:c.T833A:p.V278E	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.033587706696	.	0.000199681	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs534834408	0.0001	0.0001	6.262e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0021	1.97e-05	1.969e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.331	0.13088	T	0.36	0.16964	T	0.014	0.16867	B	0.033	0.22329	B	0.561926	0.11327	N	0.802457	1	0.08975	N	-1.445	0.00556	N	0.61	0.53516	T	-1.21	0.30762	N	0.325	0.36569	-0.7844	0.56053	T	0.207	0.56608	T	10	0.0081394315	0.00185	T	0.033588	0.55087	D	0.218	0.51265	0.491	0.57732	0.21737058555	0.21362	0.31195736443662847	0.31108	0.396434436232	0.40755	0.290465980768	0.08990	T	0.009381	0.08542	T	-0.493532	0.00622	T	-0.488964	0.23499	T	0.0245864509019198	0.01219	T	0.00832417	0.00038	T	0.26892576	0.49965	0.15974712	0.37241	0.26892576	0.49964	0.15974712	0.37241	-3.966	0.23293	T	.	.	0.117	0.23605	B	.	.	2.009752	0.25536	16.80	0.61955694117289672	0.06839	0.05105	0.10907	N	AEFDGBI	0.065625	0.12810	N	-1.57109554148217	0.01415	0.06170418	-1.54952213825468	0.01979	0.09040263	0.999999388646053	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.667671	0.60360	0	0.586402	0.36253	0	.	.	5.79	-8.12	0.00949	0.343000	0.19686	-1.926000	0.04485	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.0913:0.4441:0.0:0.4646	9.993	0.41057	875	0.30485	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2492.33	33	chr10	89418032	.	T	A	2492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.14;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	89462550	89462550	T	A	exonic	SLC16A12	.	nonsynonymous SNV	SLC16A12:NM_213606:exon3:c.A29T:p.N10I	Cataract 47, juvenile, with microcornea, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0189753491615	.	.	1.007e-05	0	0	0	0	0	0	6.786e-05	6.5e-06	1	154602	rs771820490	8.907e-06	8.893e-06	5.454e-06	1.24e-05	3.481e-05	4.97e-06	3.83e-06	9.25e-06	4.56e-06	0	0	0	0	0	0	8.096e-06	1.658e-05	3.481e-05	1.972e-05	1.97e-05	0	4.038e-05	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.019	0.50132	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-0.27	0.98093	N	0.191	0.20925	-1.0170	0.24690	T	0.027	0.11663	T	7	0.07809138	0.12404	T	0.018975	0.41214	T	0.060	0.17295	0.355	0.35571	0.181679512989	0.17746	0.5128368487984207	0.51205	0.211705828522	0.23670	0.335425615311	0.15753	T	.	.	.	-0.415104	0.01839	T	-0.652517	0.08778	T	0.0846438417218263	0.10570	T	0.467453	0.13767	T	0.09921755	0.23412	0.07535768	0.16582	0.09921755	0.23412	0.07535768	0.16582	-3.243	0.13013	T	.	.	0.127	0.27009	B	.;.	.;.	2.012190	0.25571	16.81	0.97847787903822547	0.36372	0.16414	0.19378	N	AEFGI	0.157618	0.28315	N	-0.457669425244615	0.23480	1.261258	-0.475423285428469	0.22833	1.24215	8.43886281958375E-4	0.07902	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.66	3.31	0.37025	0.595000	0.23729	2.364000	0.32389	0.665000	0.62972	0.000000	0.06391	0.108000	0.22760	0.941000	0.48210	0.0:0.1654:0.1643:0.6702	4.657	0.12005	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	989.33	34	chr10	89462550	.	T	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.466;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.372;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	18	0	1	0
chr10	89645128	89645128	C	T	exonic	PANK1	.	nonsynonymous SNV	PANK1:NM_148977:exon1:c.G175A:p.A59T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.680704873922	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773860515	1.034e-05	1.163e-05	1.165e-05	8.983e-06	4.01e-05	6e-06	4.69e-06	1.065e-05	4.95e-06	0	0	0	3.332e-05	0	0	9.406e-06	0	4.01e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.571590	0.11233	N	0.770862	1	0.08975	N	0.695	0.17993	N	-6.44	0.99694	D	0.01	0.06868	N	0.081	0.05670	1.017	0.97485	D	0.927	0.97587	D	10	0.13910598	0.26450	T	0.680705	0.97354	D	0.195	0.47612	0.156	0.05964	0.790246465493	0.78830	0.09890003035962258	0.09821	0.58118301482	0.53933	0.569698929787	0.48635	T	0.176962	0.52709	T	0.0258818	0.55172	T	-0.200599	0.54589	T	0.0577999465167522	0.06818	T	0.380262	0.09172	T	0.039747022	0.05547	0.07804007	0.17441	0.039747022	0.05546	0.07804007	0.17441	-5.007	0.36916	T	.	.	0.080	0.07841	B	.	.	0.870649	0.12432	8.969	0.98351339245465685	0.40547	0.20348	0.21008	N	ALL	0.048948	0.08407	N	-0.940663202961285	0.09903	0.4708345	-0.969949116418115	0.10464	0.5271746	0.999999995782365	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.36	1.27	0.20595	0.562000	0.23235	0.253000	0.16451	-0.196000	0.09079	0.001000	0.13787	0.000000	0.08366	0.309000	0.24713	0.0:0.5658:0.1962:0.238	3.944	0.08836	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	493.33	35	chr10	89645128	.	C	T	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.09;DP=640;ExcessHet=0;FS=8.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.601;SOR=0.089	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr10	89726322	89726324	TAT	-	exonic	KIF20B	.	nonframeshift deletion	KIF20B:NM_001382506:exon15:c.1818_1820del:p.I608del,KIF20B:NM_001284259:exon16:c.2031_2033del:p.I679del	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0027	0.0007	0	0	0.0006	0.0054	0.0043	0.0013	0.0005379	14	26028	rs545101501	0.0041	0.0040	0.0041	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0008	0.0022	0.0021	0	0.0009	0.0016	0.0048	0.0031	0.0016	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0006	0.0044	0.0036	0.0020	0	0.0009	0.0068	0.0047	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1298.29	34	chr10	89726321	.	ATAT	A	1298.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=689;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.129;SOR=0.545	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1407	18	0	1	0
chr10	89738578	89738580	AAG	-	exonic	KIF20B	.	nonframeshift deletion	KIF20B:NM_001382506:exon19:c.3524_3526del:p.E1180del,KIF20B:NM_001284259:exon20:c.3737_3739del:p.E1251del,KIF20B:NM_016195:exon20:c.3617_3619del:p.E1211del	.	462	1058	2	0	0	2	0.000944287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131	0.0129792	0.0049	0.0316	0.0027	0.0020	0.0002	0.0017	0.0024	0.0080	0.0006531	17	26028	rs149688226	0.0014	0.0099	0.0014	0.0014	0.0310	0.0013	0.0013	0.0294	0.0287	0.0310	0.0022	0.0002	0.0003	0.0001	0.0017	0.0004	0.0020	0.0048	0.0086	0.0087	0.0085	0.0086	0.0298	0.0082	0.0080	0.0284	0.0278	0.0298	0	0.0016	0	0.0004	9.439e-05	0.0102	7.365e-05	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1087.29	41	chr10	89738577	.	AAAG	A	1087.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=771;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.51;ReadPosRankSum=0.25;SOR=1.286	GT:AD:DP:GQ:PL	0/0:37,0:37:96:0,96,1440	18	0	1	0
chr10	89738611	89738611	C	G	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon19:c.C3557G:p.T1186R,KIF20B:NM_001284259:exon20:c.C3770G:p.T1257R,KIF20B:NM_016195:exon20:c.C3650G:p.T1217R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0531493065097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.121	0.35840	T	0.846	0.46778	P	0.387	0.44046	B	0.990300	0.08035	N	0.995188	1	0.08975	N	1.845	0.48678	L	-0.35	0.68616	T	-1.93	0.44852	N	0.182	0.19728	-0.8159	0.54189	T	0.228	0.59321	T	10	0.11608195	0.21888	T	0.053149	0.65352	D	0.186	0.46104	0.098	0.01383	0.517377062552	0.51381	0.36108062739621166	0.36022	0.100780147641	0.11386	0.281747639179	0.07738	T	0.021136	0.16515	T	-0.0953548	0.37191	T	-0.374747	0.36335	T	0.38256973028183	0.28281	T	0.728327	0.34315	T	0.0702547	0.15460	0.10299301	0.24700	0.0702547	0.15459	0.10299301	0.24699	-4.857	0.35814	T	.	.	0.096	0.24666	B	.;.	.;.	1.258617	0.16560	12.62	0.96742424189953036	0.30928	0.09727	0.15418	N	AEFGBI	0.084699	0.17166	N	-0.43496504982171	0.24253	1.308233	-0.528119772854305	0.21391	1.156957	0.999913737919209	0.45857	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.82	-0.998	0.09690	-0.677000	0.05315	-0.290000	0.10200	0.549000	0.26987	0.004000	0.16614	0.059000	0.21998	0.971000	0.54645	0.0:0.36:0.0:0.64	10.728	0.45279	481	0.77356	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	22	chr10	89738611	.	C	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=647;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.178;SOR=0.919	GT:AD:DP:GQ:PL	0/0:21,0:21:57:0,57,855	18	0	1	0
chr10	91460485	91460485	T	A	exonic	HECTD2	.	nonsynonymous SNV	HECTD2:NM_001284274:exon3:c.T327A:p.D109E,HECTD2:NM_001348365:exon3:c.T6A:p.D2E,HECTD2:NM_173497:exon3:c.T327A:p.D109E,HECTD2:NM_182765:exon3:c.T327A:p.D109E	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0058	0.00479233	0.0062	0.0014	0.0011	0	0.0048	0.0065	0.0088	0.0150	0.0059314	917	154602	rs61754654	0.0069	0.0070	0.0067	0.0072	0.0154	0.0068	0.0068	0.0147	0.0144	0.0010	0.0017	0.0013	7.567e-05	0.0053	0.0035	0.0071	0.0071	0.0154	0.0044	0.0044	0.0043	0.0046	0.0130	0.0042	0.0041	0.0105	0.0095	0.0011	0	0.0029	0.0012	0	0.0040	0.0102	0.0069	0.0014	0.0130	0.205	0.24857	T	0.802	0.28300	T	0.004	0.12183	B	0.004	0.10090	B	0.000001	0.84330	N	0.052689	0.702389	0.30091	N	0.55	0.14455	N	1.28	0.53943	T	-0.53	0.45949	N	0.339	0.38950	-1.0998	0.04116	T	0.050	0.21417	T	10	0.005548686	0.00123	T	.	.	.	0.057	0.16321	0.237	0.16760	0.0675242888579	0.06100	0.24668198629985882	0.24582	0.454724693131	0.45157	0.447286248207	0.31574	T	0.002438	0.07968	T	-0.501832	0.00558	T	-0.489198	0.23475	T	0.00127027247617344	0.00013	T	0.489451	0.21027	T	0.07933065	0.18118	0.04639681	0.06456	0.07933065	0.18118	0.04639681	0.06455	-2.967	0.09830	T	.	.	0.107	0.28835	B	.;.;.;.	.;.;.;.	0.744747	0.11144	7.785	0.90274591098455936	0.19543	0.25097	0.22596	N	AEFBI	0.091133	0.18463	N	-1.04590637968872	0.07668	0.356994	-1.05254450562106	0.08654	0.4265738	9.0706099835822E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.39	0.398	0.15542	0.497000	0.22222	1.260000	0.25225	-0.120000	0.14102	0.264000	0.24988	0.926000	0.28431	0.079000	0.17189	0.1335:0.2938:0.0:0.5727	4.616	0.11814	502	0.75873	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.011364	0.02632	1374.33	36	chr10	91460485	.	T	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=780;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-0.633;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr10	91842349	91842349	C	T	exonic	TNKS2	.	nonsynonymous SNV	TNKS2:NM_025235:exon16:c.C2017T:p.R673C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.150919208533	.	.	5.769e-05	0	0	0.0001	0	1.499e-05	0	0.0003	5.17e-05	8	154602	rs771677211	5.541e-05	5.541e-05	2.723e-05	8.388e-05	0.0005	4.543e-05	4.155e-05	0.0004	0.0003	0	0	0	2.519e-05	1.872e-05	0.0002	3.058e-05	1.656e-05	0.0005	1.315e-05	1.314e-05	0	2.692e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000011	0.62929	D	0.000000	1	0.81001	D	2.015	0.55033	M	-0.39	0.69158	T	-6.76	0.92736	D	0.829	0.82458	-0.1332	0.79326	T	0.465	0.79317	T	10	0.79178536	0.78724	D	0.150919	0.83254	D	0.434	0.73951	0.456	0.52102	0.628054781301	0.62502	0.5759087512527854	0.57519	1.51252271535	0.87270	0.922147870064	0.98483	D	0.796221	0.94756	D	0.0656037	0.60309	T	0.178425	0.81906	D	0.707885324954987	0.41097	D	0.989968	0.96869	D	0.61002713	0.73229	0.4721736	0.69400	0.61002713	0.73230	0.4721736	0.69401	-11.486	0.82257	D	.	.	0.838	0.79117	P	.	.	5.643661	0.92759	33	0.99940287995366583	0.99767	0.94437	0.61163	D	AEFGBI	0.426536	0.49085	N	0.729932712988592	0.81597	7.559122	0.713507348590392	0.83404	8.01279	0.85932293064711	0.25195	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	2.095000	0.41354	4.901000	0.45859	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.143:0.857:0.0:0.0	14.942	0.70646	907	0.22727	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	37	chr10	91842349	.	C	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=696;ExcessHet=0;FS=5.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.162;SOR=0.273	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1140	18	0	1	0
chr10	91951543	91951543	G	T	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon5:c.G541T:p.A181S	.	421	1094	7	0	0	7	0.00318907	.	.	.	2451654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0305472226054	0.0015	0.00179712	0.0026	0.0002	0.0008	0	0.0017	0.0021	0	0.0092	0.0024126	373	154602	rs143465709	0.0024	0.0024	0.0022	0.0026	0.0092	0.0024	0.0023	0.0087	0.0085	0.0003	0.0009	0.0002	2.537e-05	0.0010	0.0033	0.0023	0.0020	0.0092	0.0017	0.0017	0.0015	0.0019	0.0093	0.0015	0.0015	0.0072	0.0064	0.0005	0	0.0017	0	0	0.0016	0.0102	0.0021	0.0014	0.0093	0.773	0.03354	T	0.813	0.03910	T	0.0	0.02946	B	0.001	0.04355	B	0.002717	0.36068	N	0.305782	0.988272	0.40734	D	-0.46	0.02758	N	-2.61	0.89953	D	0.2	0.04861	N	0.155	0.19459	-0.6629	0.62148	T	0.333	0.70043	T	10	0.003952384	0.00076	T	0.030547	0.52835	D	0.249	0.55752	.	.	0.43068463968	0.42687	0.1427154959639439	0.14194	0.440069081721	0.44022	0.42445987463	0.28450	T	0.065664	0.32747	T	-0.377247	0.03242	T	-0.308834	0.43785	T	0.0036264418587948	0.00038	T	0.773323	0.40460	T	0.050170317	0.09022	0.065170236	0.13171	0.050170317	0.09021	0.065170236	0.13171	-2.092	0.03550	T	.	.	0.070	0.03301	B	.;.	.;.	1.746527	0.22223	15.53	0.49164010667162972	0.04163	0.97342	0.74144	D	AEFGBI	0.293684	0.40425	N	-0.533136267924007	0.21015	1.112194	-0.321190887566464	0.27415	1.521081	0.0412145867519837	0.14474	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.09	0.47038	3.675000	0.54340	5.918000	0.51122	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0749:0.0:0.7839:0.1412	9.563	0.38543	919	0.19497	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	2131.83	120	chr10	91951543	.	G	T	2131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.629;DP=817;ExcessHet=0.119;FS=0.5;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.145;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr10	92052232	92052232	C	T	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_001178137:exon10:c.G2035A:p.V679I,CPEB3:NM_014912:exon10:c.G2077A:p.V693I	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00924210500838	0.0004	0.000798722	0.0013	0.0001	0.0004	0.0007	0.0030	0.0015	0.0024	0.0016	0.0012031	186	154602	rs140779166	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0010	0.0010	0.0001	0.0005	0.0016	0.0002	0.0039	0.0009	0.0010	0.0011	0.0012	0.0011	0.0011	0.0009	0.0013	0.0017	0.0010	0.0009	0.0010	0.0008	0.0003	0	0.0014	0.0014	0	0.0041	0	0.0011	0.0014	0.0017	1.0	0.00964	T	0.856	0.03447	T	0.078	0.29379	B	0.02	0.23121	B	0.000000	0.84330	D	0.000000	0.999955	0.52396	D	0.49	0.13296	N	1.07	0.39990	T	-0.12	0.09297	N	0.146	0.14763	-1.0251	0.22050	T	0.083	0.32499	T	10	0.005017549	0.00108	T	0.009242	0.24272	T	0.149	0.39377	.	.	0.102598925029	0.09809	0.3819421058550225	0.38109	1.06899569482	0.76745	0.472741872072	0.35057	T	0.006522	0.05951	T	-0.46733	0.00883	T	-0.474142	0.25070	T	0.0187603489905347	0.00588	T	0.839616	0.51418	T	0.0999785	0.23602	0.12136237	0.29281	0.0999785	0.23601	0.12136237	0.29281	-4.407	0.36093	T	.	.	0.071	0.15251	B	.;.;.	.;.;.	4.052127	0.60070	24.2	0.70303460954677066	0.09252	0.80307	0.39979	D	AEFDGBHCI	0.298156	0.40755	N	-0.154700462369715	0.35034	2.007345	0.0633983686387691	0.42723	2.589199	0.967763039742773	0.29001	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	5.65	5.65	0.86881	3.368000	0.52084	4.054000	0.41532	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.0:1.0:0.0:0.0	19.707	0.96075	927	0.17636	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2628.33	33	chr10	92052232	.	C	T	2628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=844;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.427;SOR=0.828	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1125	18	0	1	0
chr10	92239875	92239875	T	C	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_001178137:exon2:c.A476G:p.Q159R,CPEB3:NM_014912:exon2:c.A476G:p.Q159R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.127451247285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.564	0.08991	T	0.908	0.50127	P	0.888	0.63021	P	0.440491	0.04757	N	1.566710	0.99696	0.43535	D	1.1	0.28011	L	0.89	0.45636	T	-0.8	0.22294	N	0.444	0.48227	-0.9542	0.40238	T	0.117	0.41320	T	10	0.3390661	0.51000	T	0.127451	0.80926	D	0.241	0.54641	0.141	0.04462	0.910905623823	0.91001	0.4532872189128743	0.45246	1.46893529203	0.86508	0.81584250927	0.84390	D	0.014663	0.12441	T	0.00232901	0.51976	T	-0.234431	0.51341	T	0.533258738619581	0.33854	D	0.881612	0.60121	D	0.18360348	0.39636	0.13919412	0.33218	0.18360348	0.39636	0.13919412	0.33218	-4.782	0.34673	T	.	.	0.369	0.58493	A	.;.;.	.;.;.	4.254587	0.64612	24.7	0.96173004153565134	0.28936	0.59456	0.30920	D	AEFDGBCIJ	0.615361	0.60233	D	-0.00374854696076059	0.41684	2.497846	0.0324351177744268	0.41231	2.473618	0.999999999992359	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	3.38	3.38	0.37806	2.571000	0.45654	5.842000	0.50257	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	10.842	0.45929	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	900.33	42	chr10	92239875	.	T	C	900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=810;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.161;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	93355738	93355738	T	C	splicing	MYOF	NM_013451:exon31:c.3295-2A>G;NM_133337:exon30:c.3256-2A>G	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205653418	6.859e-07	1.368e-06	0	1.378e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309827	0.83734	D	0.207268	0.83523	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.669327	0.95567	35	0.99455426238738232	0.65530	0.99733	0.99053	D	AEFDBI	.	.	.	1.05539613242461	0.97215	15.76535	0.896367235542294	0.95412	13.59747	0.999999999946266	0.74766	0.295142	0.05270	0	0.059962	0.00310	0	0.083675	0.02720	0	0.322829	0.05601	0	0.965893	0.68827	6.04	6.04	0.98025	7.140000	0.76912	7.781000	0.68671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:0.0:1.0	16.576	0.84499	589	0.68969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	529.33	41	chr10	93355738	.	T	C	529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.724;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.398;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	18	0	1	0
chr10	93374923	93374923	T	C	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon22:c.A2102G:p.N701S,MYOF:NM_013451:exon23:c.A2141G:p.N714S	.	.	.	.	.	.	.	.	.	.	.	2314094	not_specified|MYOF-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0560088701625	.	0.000399361	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001552	24	154602	rs552853081	0.0001	0.0001	5.718e-05	0.0002	0.0016	9.051e-05	8.534e-05	0.0014	0.0013	2.988e-05	0	0	2.519e-05	0	0.0002	2.698e-06	6.625e-05	0.0016	4.595e-05	4.593e-05	1.285e-05	8.053e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.904	0.02513	T	0.924	0.02873	T	0.104	0.63424	B	0.09	0.68059	B	0.000000	0.84330	D	0.046526	1	0.81001	D	1.925	0.51371	L	-1.28	0.79376	T	-1.56	0.37759	N	0.786	0.78262	-0.2006	0.77656	T	0.523	0.82211	D	10	0.10067865	0.18350	T	0.056009	0.66448	D	0.361	0.68141	.	.	0.789868322563	0.78792	0.22712637372610012	0.22627	0.557220950555	0.52343	0.415820240974	0.27261	T	0.205966	0.56517	T	-0.313759	0.07421	T	-0.279818	0.46822	T	0.210847651402104	0.20998	T	0.90041	0.65400	D	0.13600986	0.31545	0.17629154	0.40152	0.13600986	0.31545	0.17629154	0.40152	-4.969	0.37548	T	.	.	0.105	0.21428	B	.;.	.;.	3.940533	0.57659	23.9	0.99186751461217892	0.54848	0.99676	0.98575	D	AEFBI	0.902151	0.84971	D	0.10564885511618	0.46726	2.90862	0.190273989567902	0.49312	3.135973	0.999999999996516	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.017000	0.88732	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.070	0.80721	501	0.75956	.;Ferlin A-domain|Ferlin A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1887.33	33	chr10	93374923	.	T	C	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.746;SOR=0.656	GT:AD:DP:GQ:PL	0/1:99,77:176:99:1901,0,2478	18	0	1	0
chr10	93389070	93389070	G	A	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon17:c.C1502T:p.T501M,MYOF:NM_013451:exon18:c.C1541T:p.T514M	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.059698295987	.	.	0.0001	0	0.0002	0	0	1.499e-05	0.0011	0.0005	8.41e-05	13	154602	rs374984115	4.994e-05	4.994e-05	3.267e-05	6.739e-05	0.0009	4.059e-05	3.734e-05	0.0004	0.0004	2.987e-05	4.473e-05	0	2.52e-05	0	0.0009	9.893e-06	8.28e-05	0.0006	2.628e-05	3.283e-05	3.854e-05	1.345e-05	6.545e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.545e-05	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.052012	0.999998	0.58761	D	2.98	0.85499	M	-1.92	0.84773	D	-3.11	0.63669	D	0.348	0.39962	0.680	0.92924	D	0.770	0.92174	D	10	0.31721073	0.49133	T	0.059698	0.67751	D	0.483	0.77271	0.273	0.22369	0.932854520888	0.93216	0.7982710769194075	0.79780	0.609560581112	0.55682	0.7791492939	0.78800	T	0.212183	0.57315	T	-0.0581663	0.43193	T	0.0361559	0.72678	D	0.72348415851593	0.41875	D	0.940306	0.77472	D	0.41761747	0.61933	0.37971613	0.63020	0.41761747	0.61934	0.37971613	0.63020	-10.629	0.77584	D	.	.	0.224	0.45653	B	.;.	.;.	4.385789	0.67640	25.1	0.99889861653668677	0.96436	0.98205	0.80520	D	AEFBI	0.810954	0.73406	D	0.754985781262966	0.83230	7.963057	0.694231675056381	0.81941	7.645718	0.999999994527708	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	6.842000	0.75173	8.689000	0.78070	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.295	0.90084	418	0.81602	.;Ferlin, third C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	34	chr10	93389070	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.165;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	93503332	93503332	G	A	exonic	CEP55	.	nonsynonymous SNV	CEP55:NM_001127182:exon3:c.G403A:p.A135T,CEP55:NM_018131:exon3:c.G403A:p.A135T	.	411	1108	3	0	0	3	0.00135196	.	.	.	2398568	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00251191504171	.	0.000599042	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001617	25	154602	rs561357549	5.336e-05	5.336e-05	2.722e-05	7.976e-05	0.0008	4.344e-05	4.017e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0.0001	0.0008	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.579	0.06011	T	0.38	0.15988	T	0.0	0.02946	B	0.001	0.04355	B	0.041093	0.23987	N	0.480369	1	0.08975	N	0.315	0.10303	N	2.21	0.18414	T	-0.01	0.07155	N	0.046	0.01825	-0.9799	0.35025	T	0.017	0.07140	T	10	0.0053614676	0.00118	T	0.002512	0.05009	T	0.016	0.02506	0.312	0.28612	0.128392430309	0.12331	0.053299315389546895	0.05271	0.13996330157	0.15771	0.281907200813	0.07760	T	0.001408	0.00865	T	-0.676103	0.00051	T	-0.8003	0.01895	T	0.00869942007596806	0.00107	T	0.630437	0.24556	T	0.021078454	0.00693	0.049378622	0.07532	0.021078454	0.00693	0.049378622	0.07532	-6.793	0.52507	T	.	.	0.070	0.03301	B	.	.	0.410424	0.07812	4.506	0.74262986396692254	0.10630	0.02807	0.07532	N	ALL	0.021527	0.00967	N	-1.48057386018797	0.01987	0.08728513	-1.47303037856035	0.02568	0.1183218	0.999999904004149	0.74766	0.706548	0.73137	0	0.504199	0.08210	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	-3.03	0.05100	0.371000	0.20182	0.395000	0.17934	-0.633000	0.04490	0.243000	0.24778	0.000000	0.08366	0.009000	0.08673	0.3977:0.0:0.6023:0.0	12.936	0.57712	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1504.33	157	chr10	93503332	.	G	A	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.634;DP=904;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.33;SOR=0.679	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr10	94171195	94171195	C	A	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon3:c.C584A:p.P195H,PLCE1:NM_001288989:exon4:c.C1508A:p.P503H,PLCE1:NM_016341:exon4:c.C1508A:p.P503H	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0407177677718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.63918	D	0.343	0.33512	B	0.126	0.34292	B	0.000453	0.44317	D	0.194449	0.996419	0.23022	N	0	0.06538	N	-0.46	0.70014	T	-0.81	0.22294	N	0.238	0.26837	-0.9102	0.46830	T	0.156	0.48755	T	10	0.10823184	0.20139	T	0.040718	0.59531	D	0.109	0.30843	0.217	0.13788	0.798263818159	0.79638	0.23119947390241619	0.23034	0.134675723208	0.15172	0.256293177605	0.04459	T	0.107011	0.41884	T	-0.17624	0.24296	T	-0.490933	0.23293	T	0.841204404830933	0.49426	D	0.737326	0.35372	T	0.14294845	0.32875	0.117273234	0.28311	0.14294845	0.32875	0.117273234	0.28310	-4.218	0.29161	T	0.1523059261967281	0.18034	0.086	0.17103	B	.;.;.	.;.;.	1.908049	0.24231	16.32	0.9883673870529911	0.47052	0.80183	0.39889	D	AEFI	0.203411	0.32993	N	-0.345864238876128	0.27425	1.50452	-0.230359950459929	0.30453	1.714847	0.00101725068401374	0.08126	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	3.83	0.43287	0.641000	0.24411	-0.114000	0.11796	0.599000	0.40250	0.332000	0.25606	0.000000	0.08366	0.681000	0.33571	0.0:0.8077:0.1249:0.0674	11.587	0.50181	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	157	chr10	94171195	.	C	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=788;ExcessHet=0;FS=4.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.371;SOR=1.088	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	94283842	94283842	G	T	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon20:c.G3924T:p.Q1308H,PLCE1:NM_001288989:exon21:c.G4800T:p.Q1600H,PLCE1:NM_016341:exon21:c.G4848T:p.Q1616H	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3880612	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0110707803239	.	.	5.815e-05	0	8.723e-05	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs763255266	1.301e-05	1.3e-05	9.542e-06	1.652e-05	0.0001	8.32e-06	6.71e-06	5.813e-05	3.957e-05	0	0.0001	0	0	0	0	1.081e-05	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.023	0.48186	D	0.028	0.54934	D	0.997	0.70673	D	0.928	0.66279	D	0.000010	0.62929	D	0.067052	0.875878	0.35653	D	1.59	0.40313	L	1.79	0.25509	T	-0.64	0.22944	N	0.175	0.32481	-0.9879	0.33126	T	0.079	0.31254	T	10	0.24567953	0.41820	T	0.011071	0.28311	T	0.084	0.24469	0.232	0.16005	0.635582896387	0.63258	0.47341112076583036	0.47260	1.28687267686	0.82678	0.566021561623	0.48116	T	0.329982	0.70022	T	-0.304391	0.08252	T	-0.419967	0.31080	T	0.362771570682526	0.27517	T	0.716728	0.32905	T	0.10954487	0.25898	0.10662662	0.25655	0.10954487	0.25897	0.10662662	0.25655	-3.782	0.20984	T	0.2096454499639708	0.28069	0.184	0.39832	B	.;.;.	.;.;.	3.307852	0.45438	22.1	0.99734314749460951	0.82975	0.97070	0.72515	D	AEFBI	0.643273	0.61994	D	0.361440180310299	0.59345	4.113274	0.386649485933451	0.60742	4.265177	0.433504056265604	0.20393	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.39	4.49	0.54177	2.493000	0.44979	5.288000	0.48200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1514:0.0:0.8486:0.0	10.428	0.43575	370	0.84343	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	804.33	34	chr10	94283842	.	G	T	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.292;DP=709;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.199;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	94293583	94293583	A	G	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon22:c.A4187G:p.N1396S,PLCE1:NM_001288989:exon23:c.A5063G:p.N1688S,PLCE1:NM_016341:exon23:c.A5111G:p.N1704S	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1640828	Nephrotic_syndrome,_type_3|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.00699535785762	0.0003	.	0.0002	0	0	0	0.0005	0.0003	0	0.0001	0.0001811	28	154602	rs201633028	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.975e-05	4.472e-05	0	0	0.0003	0	0.0004	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	7.234e-05	0	0	0	0	0.0003	0	0.0004	0	0.0002	0.265	0.16305	T	0.195	0.28032	T	0.539	0.37887	P	0.135	0.33210	B	0.000035	0.55875	D	0.125415	0.958033	0.38553	D	1.525	0.38595	L	1.91	0.23283	T	-0.27	0.13805	N	0.168	0.18239	-1.0421	0.16681	T	0.031	0.13286	T	10	0.062467158	0.07990	T	0.006995	0.18513	T	0.082	0.23913	.	.	0.652799619513	0.64990	0.2476217492337039	0.24676	0.517718159117	0.49631	0.570874929428	0.48802	T	0.067278	0.33160	T	-0.505547	0.00532	T	-0.653441	0.08715	T	0.072564998300215	0.09006	T	0.90231	0.65919	D	0.061110564	0.12618	0.08893515	0.20766	0.06385929	0.13491	0.08798279	0.20485	-2.171	0.03902	T	0.21676335934319466	0.29163	0.075	0.05668	B	.;.;.	.;.;.	3.747914	0.53711	23.4	0.9907301376432025	0.51762	0.90514	0.51753	D	AEFDBIJ	0.595067	0.58976	D	-0.0640082747559654	0.38979	2.291396	0.107169726257229	0.44914	2.764066	0.999814552548736	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.45	4.31	0.50718	4.104000	0.57524	9.416000	0.80730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.774	0.45540	372	0.84213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	34	chr10	94293583	.	A	G	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=741;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.06;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	18	0	1	0
chr10	94341721	94341721	T	A	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon14:c.A1596T:p.E532D	.	493	1028	1	0	0	1	0.000486145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.013866817231	.	.	8.567e-06	0	0	0	0	0	0	6.348e-05	3.84e-05	1	26028	rs761803586	5.64e-06	5.473e-06	7.005e-06	4.257e-06	0.0002	2.43e-06	1.75e-06	1.711e-05	1.016e-05	0	0	0	0	0	0.0002	1.837e-06	1.71e-05	5.19e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.434	0.09430	T	0.242	0.24264	T	0.073	0.24078	B	0.026	0.20792	B	0.000056	0.53742	D	0.193237	0.983576	0.40032	D	.	.	.	1.36	0.34452	T	-0.37	0.13226	N	0.326	0.36674	-0.9582	0.39516	T	0.080	0.31765	T	10	0.15654457	0.29480	T	0.013867	0.33594	T	0.163	0.42028	0.686	0.82367	0.192905019026	0.18896	0.19610411651198537	0.19527	0.0746427827131	0.08380	0.787606358528	0.80078	T	0.031066	0.21869	T	-0.277155	0.10972	T	-0.449353	0.27768	T	0.113907247781754	0.13824	T	0.849215	0.53152	T	0.037019286	0.04666	0.044806212	0.05886	0.037019286	0.04666	0.044806212	0.05886	-2.714	0.07421	T	.	.	0.275	0.50853	B	.	.	1.183047	0.15737	12.07	0.8314630838951903	0.14567	0.74249	0.36320	D	AEFBI	0.259193	0.37759	N	-1.2581793140631	0.04193	0.1887728	-1.10007484437898	0.07699	0.3755451	4.5886998739706E-4	0.07036	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	-3.76	0.04074	-0.082000	0.11268	-1.092000	0.06355	-1.097000	0.01519	0.814000	0.29906	0.001000	0.17328	0.976000	0.56436	0.1151:0.1926:0.0:0.6923	9.693	0.39306	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	420.33	20	chr10	94341721	.	T	A	420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=577;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.28;SOR=0.527	GT:AD:DP:GQ:PL	0/1:11,19:30:99:434,0,233	18	0	1	0
chr10	94357291	94357291	T	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.A391G:p.I131V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00522081485096	.	.	1.669e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs748758791	4.821e-06	5.472e-06	5.48e-06	4.155e-06	7.147e-05	2.01e-06	1.29e-06	3.063e-05	2.083e-05	0	0	0	0	0	0	0	1.668e-05	7.147e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.013	0.16609	B	0.007	0.12992	B	0.000053	0.53742	D	0.173732	0.888493	0.35900	D	1.655	0.42436	L	2.8	0.11082	T	0.07	0.06138	N	0.321	0.36148	-1.0209	0.23421	T	0.019	0.08079	T	10	0.068308085	0.09642	T	0.005221	0.13310	T	0.061	0.17616	0.305	0.27485	0.220303561663	0.21668	0.053760521104757555	0.05318	0.0644950670279	0.07196	0.546593546867	0.45376	T	0.011966	0.10596	T	-0.377998	0.03207	T	-0.675459	0.07263	T	0.171227559447289	0.18663	T	0.781422	0.41649	T	0.027766254	0.02015	0.047985304	0.07030	0.027766254	0.02015	0.047985304	0.07030	-2.645	0.06853	T	.	.	0.073	0.04764	B	.	.	1.638973	0.20919	14.97	0.93047234379616517	0.22653	0.90175	0.51147	D	AEDGBI	0.279521	0.39355	N	-0.274208709181526	0.30147	1.678316	-0.0659265928633461	0.36808	2.14691	0.998769910276213	0.37623	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	3.611000	0.53881	6.166000	0.54416	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	15.092	0.71871	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	832.33	35	chr10	94357291	.	T	C	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=711;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	18	0	1	0
chr10	94545923	94545923	T	C	exonic	HELLS	.	startloss	HELLS:NM_001289067:exon1:c.T2C:p.M1?,HELLS:NM_001289069:exon1:c.T2C:p.M1?,HELLS:NM_001289070:exon1:c.T2C:p.M1?,HELLS:NM_001289072:exon1:c.T2C:p.M1?,HELLS:NM_018063:exon1:c.T2C:p.M1?	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	420	1100	2	0	0	2	0.000908265	.	.	.	724119	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4	MedGen:C3661900|MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0053	0.0061901	0.0036	0.0262	0.0023	0	0	0.0006	0	0.0001	0.0012225	189	154602	rs113154675	0.0006	0.0006	0.0006	0.0006	0.0180	0.0006	0.0006	0.0168	0.0163	0.0180	0.0014	3.971e-05	0	0	0.0028	0.0001	0.0017	8.801e-05	0.0045	0.0045	0.0047	0.0043	0.0152	0.0042	0.0041	0.0142	0.0139	0.0152	0	0.0018	0	0	0	0.0068	0.0002	0.0033	0	0.0	0.91255	D	0.0	0.92824	D	0.717	0.54515	P	0.599	0.50715	P	0.000111	0.50451	D	0.136787	0.861152	0.36030	D	.	.	.	-2.37	0.88220	D	-0.79	0.40274	N	0.788	0.83066	0.345	0.88261	D	0.622	0.86701	D	9	0.013394326	0.00284	T	.	.	.	0.525	0.79886	.	.	0.816811053065	0.81508	0.43407118627794633	0.43324	.	.	.	.	.	0.02254	0.53761	T	-0.183843	0.23165	T	-0.02388	0.68774	D	0.183650183776254	0.19463	T	0.9	0.65058	D	0.91318613	0.92594	0.87540007	0.93241	0.9297382	0.94211	0.8823468	0.93726	-6.946	0.53639	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.725662	0.53263	23.3	0.96428384234445119	0.29785	0.39765	0.26286	N	AEFDGBHCI	0.029841	0.02891	N	-0.275734835621758	0.30088	1.674479	-0.262364706569046	0.29348	1.643549	0.999999999954311	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.41	3.28	0.36691	2.225000	0.42597	5.746000	0.49600	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.0:0.108:0.0:0.892	6.692	0.22370	680	0.59965	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006431	0.022989	0.006944	0.000000	0.000000	0.000000	0.003311	0.003937	0.02632	811.33	40	chr10	94545923	.	T	C	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.404;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.31;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	18	0	1	0
chr10	94545928	94545928	G	A	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289067:exon1:c.G7A:p.A3T,HELLS:NM_001289069:exon1:c.G7A:p.A3T,HELLS:NM_001289070:exon1:c.G7A:p.A3T,HELLS:NM_001289072:exon1:c.G7A:p.A3T,HELLS:NM_018063:exon1:c.G7A:p.A3T	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.129628357081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.91255	D	0.018	0.59732	D	0.001	0.35330	B	0.005	0.36167	B	0.000218	0.47681	D	0.144113	0.925437	0.27192	N	0.69	0.16971	N	-2.44	0.88767	D	-0.49	0.38734	N	0.193	0.29774	0.148	0.85018	D	0.699	0.89613	D	10	0.109434724	0.20415	T	0.129628	0.81170	D	0.290	0.60924	0.111	0.02112	0.607808638335	0.60465	0.19953230537335023	0.19870	0.88481610199	0.69934	0.533421993256	0.43517	T	0.023906	0.52623	T	0.0231946	0.54813	T	-0.204459	0.54224	T	0.342367112636566	0.26718	T	0.818618	0.47570	T	0.11502035	0.27148	0.18490084	0.41571	0.11502035	0.27148	0.18490084	0.41570	-5.584	0.42901	T	.	.	0.123	0.25721	B	.;.;.;.	.;.;.;.	3.117359	0.42069	21.5	0.99805920453306463	0.88995	0.33819	0.24920	N	AEFDGBHCI	0.121662	0.23644	N	-0.385977238231176	0.25967	1.413684	-0.315954060883403	0.27583	1.531601	0.999999999978357	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.41	3.51	0.39297	1.949000	0.39938	5.319000	0.48286	0.526000	0.24426	0.229000	0.24633	1.000000	0.68203	0.376000	0.26245	0.1073:0.0:0.8927:0.0	8.511	0.32381	680	0.59965	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	635.33	40	chr10	94545928	.	G	A	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.555;DP=689;ExcessHet=0;FS=2.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.431;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	18	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A,HELLS:NM_001289067:exon10:c.A913G:p.T305A,HELLS:NM_001289068:exon10:c.A865G:p.T289A,HELLS:NM_001289069:exon10:c.A913G:p.T305A,HELLS:NM_001289070:exon10:c.A913G:p.T305A,HELLS:NM_001289072:exon10:c.A913G:p.T305A,HELLS:NM_018063:exon10:c.A913G:p.T305A,HELLS:NM_001289071:exon11:c.A541G:p.T181A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	452	1056	14	0	0	14	0.00658514	.	.	.	752336	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4|HELLS-related_disorder|not_provided	MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.020468	0.000000	0.008621	0.003067	0.000000	0.05263	2639.81	34	chr10	94576686	.	A	G	2639.81	.	AC=2;AF=0.053;AN=38;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30;SOR=1.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	1	0	0
chr10	94724396	94724396	T	C	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon6:c.T835C:p.C279R,CYP2C18:NM_000772:exon7:c.T1012C:p.C338R	.	1	1509	11	1	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00267346954588	0.0018	0.000998403	0.0016	0.0008	0.0004	0	0.0009	0.0024	0	0.0007	0.0016559	256	154602	rs41286882	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0003	0.0006	7.656e-05	0	0.0006	0.0012	0.0030	0.0021	0.0006	0.0016	0.0016	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0004	0	0.0012	0	0	0.0004	0	0.0027	0.0028	0.0008	0.032	0.44694	D	0.649	0.07244	T	0.782	0.44333	P	0.298	0.40966	B	0.756756	0.06516	U	1.123920	0.999991	0.08975	N	2.11	0.58565	M	2.76	0.11515	T	-10.29	0.99038	D	0.142	0.16028	-0.9938	0.31617	T	0.041	0.17446	T	10	0.017686784	0.00379	T	0.002673	0.05463	T	0.065	0.18881	.	.	0.24896430686	0.24499	0.1521464925188993	0.15136	0.137498292665	0.15505	.	.	.	0.248094	0.61784	T	-0.622496	0.00106	T	-0.669054	0.07669	T	0.0832650861092811	0.10399	T	0.591441	0.21800	T	0.7774615	0.82498	0.82562983	0.89901	0.7774615	0.82500	0.82562983	0.89902	-8.594	0.66823	D	.	.	0.181	0.39373	B	.;.	.;.	1.517705	0.19489	14.29	0.59530458507303008	0.06246	0.07847	0.13840	N	AEFI	0.727131	0.67557	D	-0.437714638283363	0.24159	1.302496	-0.543389764021369	0.20982	1.132903	1.65056732015857E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.15	1.65	0.23015	-0.121000	0.10618	-0.597000	0.08290	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.261000	0.23543	0.5366:0.0:0.0:0.4634	7.381	0.26029	535	0.73288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2781.33	34	chr10	94724396	.	T	C	2781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.039;DP=880;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-1.537;SOR=0.643	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr10	94733315	94733315	T	A	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon7:c.T991A:p.S331T,CYP2C18:NM_000772:exon8:c.T1168A:p.S390T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00489733498464	.	.	8.258e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs371155124	2.054e-06	2.052e-06	1.362e-06	2.752e-06	7.565e-05	5.5e-07	1.5e-07	2.006e-05	1.056e-05	0	0	0	7.565e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.19293	T	0.166	0.34009	T	0.055	0.22733	B	0.154	0.34351	B	0.054497	0.22721	U	0.374835	1	0.08975	N	2.41	0.69639	M	2.57	0.13552	T	-2.17	0.52612	N	0.28	0.36043	-1.0816	0.07041	T	0.070	0.28412	T	10	0.31899333	0.49291	T	0.004897	0.12318	T	0.057	0.16321	0.368	0.37687	0.306695030598	0.30287	0.1206661005302592	0.11993	0.0277816191239	0.02844	.	.	.	0.094856	0.39501	T	-0.422891	0.01640	T	-0.619529	0.11223	T	0.71992301940918	0.41695	D	0.50265	0.15781	T	0.13603969	0.31551	0.1767947	0.40238	0.13603969	0.31550	0.1767947	0.40237	-7.563	0.59306	D	.	.	0.195	0.41572	B	.;.	.;.	1.547528	0.19836	14.46	0.45751465843489558	0.03614	0.04243	0.09768	N	AEFI	0.411348	0.48186	N	-0.432185545067212	0.24349	1.314055	-0.588389769973738	0.19794	1.063682	4.01251165533724E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.05	2.83	0.32150	-0.505000	0.06448	0.572000	0.19617	0.657000	0.54293	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1848:0.0:0.191:0.6242	4.799	0.12657	533	0.73433	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1967.33	37	chr10	94733315	.	T	A	1967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=837;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.593;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	18	0	1	0
chr10	94775416	94775416	T	C	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon3:c.T358C:p.W120R	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	1	1509	11	1	0	13	0.00428901	.	.	.	47949	CYP2C19:_no_function|not_provided	.|MedGen:C3661900	practice_guideline	drug_response	.	.	.	.	.	.	.	.	0.440	0.0196703400467	0.0018	0.000998403	0.0015	0.0008	0.0004	0	0.0009	0.0024	0	0.0007	0.0016429	254	154602	rs41291556	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0003	0.0007	7.652e-05	0	0.0006	0.0012	0.0030	0.0022	0.0006	0.0016	0.0016	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0004	0	0.0013	0	0	0.0004	0	0.0027	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	0.702029	0.30094	N	.	.	.	-1.07	0.76948	T	-13.6	0.99955	D	0.945	0.95256	0.281	0.87257	D	0.709	0.89991	D	10	0.5073736	0.61896	D	0.01967	0.42091	T	0.440	0.74377	0.839	0.94541	0.842295892788	0.84078	0.6521142545272207	0.65147	0.0197886337847	0.01940	0.475302100182	0.35410	T	0.470625	0.80367	T	-0.0492393	0.44563	T	0.153444	0.80401	D	0.175412535667419	0.18941	T	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.940	0.88427	P	.;.	.;.	4.123924	0.61658	24.4	0.99157680339030074	0.54015	0.96614	0.70026	D	AEFI	0.799856	0.72600	D	0.632039619910467	0.75210	6.266102	0.432045652652883	0.63571	4.59363	3.73823349493624E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	2.46	0.29032	5.240000	0.65201	3.427000	0.38290	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:0.2054:0.7946	8.044	0.29697	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001531	0.000000	0.001359	0.003106	0.000000	0.000000	0.000000	0.000000	0.02632	2781.33	38	chr10	94775416	.	T	C	2781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.622;DP=901;ExcessHet=0;FS=0.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.17;MQRankSum=-1.662;QD=11.79;ReadPosRankSum=-0.089;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1359	18	0	1	0
chr10	94947838	94947838	A	G	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon4:c.A541G:p.I181V	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00404700464786	.	.	3.3e-05	0	8.709e-05	0	0	2.998e-05	0	6.056e-05	2.59e-05	4	154602	rs774143845	3.079e-05	3.078e-05	2.315e-05	3.851e-05	0.0003	2.347e-05	2.095e-05	6.109e-05	4.042e-05	0	0	0	0	0	0.0003	3.058e-05	0	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.318	0.13654	T	0.37	0.16473	T	0.01	0.15535	B	0.057	0.26280	B	0.097497	0.20025	U	0.366738	0.943085	0.26732	N	0.595	0.15482	N	-0.31	0.68030	T	-0.34	0.12661	N	0.144	0.14480	-0.9499	0.40989	T	0.184	0.53285	T	10	0.09999886	0.18182	T	0.004047	0.09650	T	0.045	0.12272	0.61	0.74300	0.568997365865	0.56564	0.031696239182818005	0.03118	0.0118324598183	0.01115	0.38568854332	0.23060	T	0.061914	0.31777	T	-0.375877	0.03307	T	-0.59617	0.13135	T	0.028993475019697	0.01836	T	0.575442	0.20674	T	0.25298283	0.48317	0.0763696	0.16907	0.25298283	0.48317	0.0763696	0.16906	-4.288	0.28008	T	.	.	0.098	0.16143	B	.	.	0.859292	0.12315	8.857	0.9316095471348621	0.22813	0.08642	0.14542	N	AEFI	0.667602	0.63566	D	-0.600174462826236	0.18939	0.987351	-0.566522963782546	0.20368	1.097068	1.26125153158595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	1.12	0.19700	-0.214000	0.09296	-0.842000	0.07213	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.6277:0.0:0.3723:0.0	5.218	0.14678	747	0.52260	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	546.33	34	chr10	94947838	.	A	G	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.53;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr10	94981224	94981224	C	T	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon7:c.C1003T:p.R335W	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	354244	not_provided|Lesinurad_response|Flurbiprofen_response|Piroxicam_response	MedGen:C3661900|MedGen:CN248784|MedGen:CN258139|MedGen:CN258188	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|drug_response	.	.	.	.	.	.	.	.	0.222	.	0.0077	0.0071885	0.0038	0.0214	0.0016	0.0001	0.0054	0.0022	0.0033	0.0019	0.0036934	571	154602	rs28371685	0.0032	0.0032	0.0032	0.0031	0.0195	0.0031	0.0031	0.0183	0.0178	0.0195	0.0020	0.0001	2.519e-05	0.0039	0.0035	0.0029	0.0032	0.0030	0.0070	0.0070	0.0072	0.0068	0.0174	0.0067	0.0065	0.0163	0.0159	0.0174	0	0.0043	0	0	0.0064	0.0068	0.0029	0.0043	0.0017	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.021241	0.26875	U	0.293574	0.999988	0.18198	N	4.77	0.99599	H	-0.59	0.71543	T	-7.2	0.94223	D	0.619	0.63459	-0.3835	0.72543	T	0.376	0.73401	T	10	0.008629888	0.00196	T	.	.	.	0.222	0.51872	.	.	0.875184994486	0.87396	0.13795004325895055	0.13719	0.0470208020425	0.05119	0.290101468563	0.08937	T	0.351203	0.71881	T	-0.340459	0.05356	T	-0.246886	0.50123	T	0.0901442514743598	0.11235	T	0.929907	0.74113	D	0.7352636	0.80022	0.79923123	0.88222	0.7352636	0.80023	0.79923123	0.88222	-9.011	0.67769	D	.	.	0.241	0.47492	B	.	.	3.166992	0.42937	21.6	0.99827883509086424	0.91026	0.31691	0.24401	N	AEFI	0.817627	0.73907	D	0.340550736962517	0.58242	3.995391	0.107802784130005	0.44945	2.76672	1.59947455645949E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.78	2.85	0.32333	1.186000	0.31687	-13.764000	0.00440	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.364000	0.25977	0.191:0.809:0.0:0.0	10.729	0.45281	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010042	0.015152	0.009511	0.012295	0.000000	0.000000	0.009146	0.007576	0.02632	3682.33	34	chr10	94981224	.	C	T	3682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=951;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.299;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr10	94988879	94988879	G	A	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon9:c.G1324A:p.G442S	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00972191068242	7.7e-05	0.000399361	0.0004	0	0	0	0.0002	0.0002	0	0.0021	0.0003622	56	154602	rs368545396	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0.0001	4.474e-05	0	7.557e-05	7.488e-05	0	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.814e-05	0	0.0001	0	0	0.0002	0	0.0002	0	0.0021	0.017	0.51248	D	0.006	0.70582	D	0.003	0.11197	B	0.001	0.04355	B	0.000002	0.62929	U	0.000000	0.999176	0.21543	N	-0.55	0.02420	N	-0.26	0.67187	T	0.91	0.01595	N	0.131	0.12627	-0.9559	0.39934	T	0.110	0.39723	T	10	0.019283712	0.00429	T	0.009722	0.25381	T	0.107	0.30369	.	.	0.656001370146	0.65313	0.23714022931471504	0.23629	0.00887738924054	0.00804	0.327699810266	0.14587	T	0.042342	0.26152	T	-0.512968	0.00483	T	-0.516404	0.20660	T	0.0986788660009618	0.12212	T	0.362364	0.08382	T	0.28985387	0.51979	0.17008707	0.39091	0.28985387	0.51979	0.17008707	0.39090	-3.036	0.10574	T	.	.	0.136	0.29670	B	.	.	2.192832	0.27962	17.64	0.97895899398993513	0.36704	0.48758	0.28279	N	AEFBCI	0.741942	0.68571	D	-0.786757312298496	0.13655	0.6742257	-0.641222601534561	0.18438	0.9850003	0.00679982039022438	0.11310	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	3.42	0.38259	1.399000	0.34175	-6.572000	0.01362	-0.185000	0.09859	0.970000	0.34288	0.000000	0.08366	0.058000	0.15825	0.0:0.8033:0.1967:0.0	10.698	0.45106	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2173.33	34	chr10	94988879	.	G	A	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=796;ExcessHet=0;FS=2.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.85;SOR=0.492	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1399	18	0	1	0
chr10	94989020	94989020	C	T	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon9:c.C1465T:p.P489S	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	1	1513	8	0	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0042469087398	0.0018	0.000798722	0.0019	0.0006	0.0010	0	0.0015	0.0030	0.0022	0.0002	0.0018176	281	154602	rs9332239	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0003	0.0014	0.0007	0	0.0019	0.0003	0.0025	0.0021	0.0002	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0024	0.0022	0.0003	0	0.0031	0.0009	0	0.0011	0	0.0025	0.0019	0	0.005	0.63226	D	0.0	0.92824	D	0.983	0.60381	D	0.639	0.52057	P	0.000001	0.62929	U	0.000000	0.790877	0.29227	N	2.955	0.85029	M	2.42	0.15376	T	-6.94	0.93440	D	0.151	0.15469	-1.0108	0.26666	T	0.069	0.28113	T	10	0.015488237	0.00325	T	0.004247	0.10278	T	0.110	0.31079	.	.	0.562729887668	0.55935	0.46334726255107916	0.46253	0.029605401285	0.03046	0.413081467152	0.26883	T	0.380306	0.74287	T	-0.464095	0.00926	T	-0.443408	0.28427	T	0.100016626427694	0.12359	T	0.842416	0.51891	T	0.72545624	0.79466	0.30847883	0.56866	0.6799376	0.76967	0.26498133	0.52324	-5.726	0.43924	T	.	.	0.234	0.46722	B	.	.	2.148535	0.27367	17.44	0.97795271418013252	0.36027	0.52914	0.29245	D	AEFDBCI	0.685302	0.64735	D	0.0364038750783106	0.43519	2.643152	-0.141078819534107	0.33754	1.934113	8.42073556349215E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	2.5	0.29355	2.401000	0.44166	1.228000	0.25023	0.589000	0.31548	0.772000	0.29380	0.462000	0.25007	0.004000	0.06068	0.0:0.8817:0.0:0.1183	8.775	0.33915	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2026.33	34	chr10	94989020	.	C	T	2026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.265;SOR=0.731	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr10	95394667	95394667	T	C	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001034954:exon13:c.A1304G:p.N435S,SORBS1:NM_001290298:exon13:c.A908G:p.N303S,SORBS1:NM_001384465:exon13:c.A908G:p.N303S,SORBS1:NM_001384459:exon14:c.A935G:p.N312S	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00659679840932	0.0033	0.00139776	0.0030	0.0007	0.0026	0	0.0012	0.0043	0.0033	0.0019	0.0029236	452	154602	rs147078270	0.0035	0.0036	0.0035	0.0035	0.0113	0.0034	0.0034	0.0091	0.0083	0.0003	0.0018	0.0117	0	0.0008	0.0113	0.0038	0.0032	0.0021	0.0026	0.0026	0.0028	0.0025	0.0040	0.0024	0.0023	0.0036	0.0034	0.0008	0	0.0022	0.0101	0	0.0004	0.0034	0.0040	0.0043	0.0023	0.173	0.22573	T	0.701	0.05707	T	0.002	0.09854	B	0.004	0.10090	B	0.000382	0.44960	D	0.000000	1	0.81001	D	1.39	0.34934	L	3.16	0.07711	T	-1.21	0.30762	N	0.125	0.21580	-0.9336	0.43605	T	0.011	0.03996	T	10	0.0046735406	0.00098	T	0.006597	0.17415	T	0.104	0.29647	.	.	0.374076547971	0.37021	0.19694114752873415	0.19611	0.149610788951	0.16869	0.348650872707	0.17724	T	0.115101	0.43343	T	-0.651914	0.00070	T	-0.706871	0.05458	T	0.0113779871061898	0.00170	T	0.838016	0.51077	T	0.05432028	0.10405	0.107875235	0.25976	0.05432028	0.10404	0.107875235	0.25975	-6.346	0.49086	T	.	.	0.111	0.22428	B	.;.	.;.	1.467754	0.18910	13.99	0.9284714388823081	0.22385	0.74518	0.36455	D	AEFDGBCIJ	0.315370	0.41996	N	-0.655626110128228	0.17297	0.888821	-0.454672349549036	0.23416	1.27689	0.999988455012172	0.51787	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.06	0.67	0.17092	1.404000	0.34232	.	.	0.665000	0.62972	1.000000	0.71638	0.909000	0.28100	1.000000	0.97212	0.0:0.2113:0.1197:0.669	6.401	0.20839	803	0.44167	SoHo domain;SoHo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.005051	0.009511	0.014620	0.000000	0.025862	0.003067	0.007576	0.02632	1051.33	96	chr10	95394667	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=721;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.53;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1246	18	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.05263	1195.83	34	chr10	95684564	.	C	T	1195.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.01;DP=704;ExcessHet=0.119;FS=3.269;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.191;SOR=0.975	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1034	17	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.05263	3811.83	34	chr10	95693676	.	G	A	3811.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.17;DP=890;ExcessHet=0.119;FS=0.963;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.952;SOR=0.769	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1276	17	0	2	0
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	337.81	149	chr10	95938628	.	T	C	337.81	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.079;DP=1474;ExcessHet=0.3672;FS=137.288;InbreedingCoeff=-0.0861;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.195;SOR=8.302	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	16	0	3	0
chr10	96158508	96158508	A	G	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330732:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330735:exon6:c.A2186G:p.D729G,ZNF518A:NM_001330736:exon6:c.A2186G:p.D729G,ZNF518A:NM_014803:exon6:c.A2186G:p.D729G,ZNF518A:NM_001278524:exon7:c.A2186G:p.D729G,ZNF518A:NM_001278526:exon7:c.A596G:p.D199G,ZNF518A:NM_001330733:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330734:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330737:exon7:c.A2186G:p.D729G,ZNF518A:NM_001330738:exon7:c.A2186G:p.D729G	.	428	1073	21	0	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00339457	0.0026	0.0001	0.0005	0.0001	0	0.0004	0	0.0167	0.0021992	340	154602	rs374324754	0.0012	0.0012	0.0007	0.0017	0.0168	0.0012	0.0012	0.0161	0.0158	5.984e-05	0.0003	3.834e-05	5.041e-05	0	0.0040	0.0002	0.0015	0.0168	0.0007	0.0007	0.0003	0.0010	0.0168	0.0006	0.0005	0.0138	0.0127	0	0	0.0001	0	0.0004	0	0	0.0003	0.0005	0.0168	.	.	.	0.429	0.13752	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.217	0.24385	.	.	.	.	.	.	.	0.004383743	0.00089	T	.	.	.	.	.	.	.	0.139678290688	0.13603	0.13755343746640727	0.13679	.	.	0.283195018768	0.07942	T	0.003454	0.02859	T	-0.394251	0.02524	T	-0.326117	0.41899	T	.	.	.	0.475952	0.14261	T	0.050538234	0.09144	0.13970518	0.33324	0.050538234	0.09144	0.13970518	0.33324	-3.587	0.17669	T	.	.	0.091	0.13032	B	.;.;.	.;.;.	0.907653	0.12819	9.334	0.51426713281855718	0.04561	0.04362	0.09933	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0537488858259811	0.14949	0.295142	0.05270	0	0.30413	0.05452	0	0.17184	0.04098	0	0.24341	0.04801	0	0.13589	0.26340	5.55	-4.83	0.02929	0.475000	0.21874	2.344000	0.32272	-0.133000	0.13014	0.007000	0.17678	0.938000	0.28711	0.179000	0.21265	0.2371:0.2526:0.2379:0.2723	0.217	0.00152	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	1269.33	42	chr10	96158508	.	A	G	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.275;DP=1011;ExcessHet=0;FS=1.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.156;SOR=0.543	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr10	96158783	96158783	G	C	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330732:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330735:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330736:exon6:c.G2461C:p.E821Q,ZNF518A:NM_014803:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001278524:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001278526:exon7:c.G871C:p.E291Q,ZNF518A:NM_001330733:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330734:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330737:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330738:exon7:c.G2461C:p.E821Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.34716	T	0.933	0.52105	P	0.349	0.42787	B	.	.	.	.	.	.	.	2.215	0.62545	M	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.18127283	0.33351	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.05116370336497706	0.05058	.	.	0.239616841078	0.02756	T	0.025693	0.19163	T	0.00528495	0.52381	T	-0.230185	0.51754	T	.	.	.	0.485951	0.14839	T	0.09974132	0.23543	0.1833223	0.41314	0.09974132	0.23542	0.1833223	0.41314	-3.463	0.15917	T	.	.	0.114	0.22644	B	.;.;.	.;.;.	1.886472	0.23959	16.22	0.56672710754045763	0.05603	0.60014	0.31076	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00333102315272147	0.10056	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.24341	0.04801	0	0.0489367	0.08445	5.65	4.74	0.59717	2.635000	0.46203	5.016000	0.46707	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.226000	0.22626	0.0825:0.1532:0.7643:0.0	8.498	0.32302	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1122.33	42	chr10	96158783	.	G	C	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=1100;ExcessHet=0;FS=2.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.037;SOR=0.417	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr10	96160136	96160136	T	G	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330732:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330735:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001330736:exon6:c.T3814G:p.S1272A,ZNF518A:NM_014803:exon6:c.T3814G:p.S1272A,ZNF518A:NM_001278524:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001278526:exon7:c.T2224G:p.S742A,ZNF518A:NM_001330733:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330734:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330737:exon7:c.T3814G:p.S1272A,ZNF518A:NM_001330738:exon7:c.T3814G:p.S1272A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0018	0.000194	30	154602	rs782662387	8.3e-05	8.414e-05	4.776e-05	0.0001	0.0013	7.088e-05	6.636e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0002	0.0013	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.593	0.08134	T	0.011	0.15914	B	0.003	0.08700	B	.	.	.	.	.	.	.	1.43	0.35840	L	.	.	.	.	.	.	0.152	0.15609	.	.	.	.	.	.	.	0.0137916505	0.00291	T	.	.	.	.	.	.	.	0.19670166235	0.19296	0.03557147713596525	0.03504	.	.	0.311803132296	0.12179	T	0.025675	0.19153	T	-0.426442	0.01558	T	-0.41541	0.31603	T	.	.	.	0.335166	0.07140	T	0.0820841	0.18893	0.2438753	0.49840	0.0820841	0.18892	0.2438753	0.49839	-4.928	0.36049	T	.	.	0.083	0.09385	B	.;.;.	.;.;.	1.769205	0.22502	15.64	0.76546051024084605	0.11511	0.78007	0.38425	D	AEFBI	.	.	.	.	.	.	.	.	.	9.41256396643487E-5	0.04910	0.295142	0.05270	0	0.30413	0.05452	0	0.292756	0.05521	0	0.223356	0.04673	0	0.371529	0.36847	6.17	-0.392	0.11822	0.314000	0.19182	0.342000	0.17391	0.660000	0.55035	0.286000	0.25196	0.129000	0.22981	0.987000	0.62547	0.1438:0.2974:0.1252:0.4336	1.546	0.02410	513	0.74941	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	42	chr10	96160136	.	T	G	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.75;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=2.3;SOR=0.738	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr10	96227443	96227443	G	C	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon5:c.C328G:p.P110A,BLNK:NM_001258440:exon5:c.C328G:p.P110A,BLNK:NM_001258441:exon5:c.C328G:p.P110A,BLNK:NM_001258442:exon5:c.C328G:p.P110A,BLNK:NM_013314:exon5:c.C328G:p.P110A	Agammaglobulinemia 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1009340	Agammaglobulinemia_4,_autosomal_recessive	MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00359750629792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	4.788e-06	5.445e-06	4.125e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	3.311e-05	2.319e-05	6.567e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.202	0.20230	T	0.248	0.26631	T	0.023	0.20614	B	0.013	0.20792	B	0.000011	0.62929	D	0.151282	0.838374	0.28665	N	2.17	0.60663	M	.	.	.	-3.67	0.81514	D	0.279	0.37613	-1.0037	0.28844	T	0.091	0.34928	T	9	0.16997904	0.31635	T	0.003598	0.08247	T	0.116	0.32463	.	.	0.570634859252	0.56729	0.28811319008134084	0.28724	0.320807667814	0.34285	0.471275269985	0.34856	T	0.749861	0.93137	D	-0.108157	0.35073	T	-0.393137	0.34185	T	0.769204080104828	0.44392	D	0.881012	0.60027	D	0.14727098	0.33674	0.11446714	0.27632	0.14727098	0.33674	0.11446714	0.27631	-4.905	0.35791	T	0.22067506726341066	0.29751	0.064	0.03479	B	.;.;.;.	.;.;.;.	3.501532	0.48989	22.7	0.98401766327296925	0.41073	0.64426	0.32403	D	AEFBCI	0.162801	0.28902	N	0.0119265762342743	0.42398	2.553747	0.163467045839612	0.47861	3.009982	0.996015504953674	0.34469	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.83	4.89	0.63387	2.683000	0.46609	6.381000	0.55541	0.575000	0.29119	0.998000	0.41325	1.000000	0.68203	0.865000	0.41091	0.0:0.1481:0.6987:0.1532	9.969	0.40914	472	0.77968	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	33	chr10	96227443	.	G	C	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=864;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.35;SOR=0.903	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr10	96304532	96304532	G	A	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon1:c.G35A:p.R12Q,DNTT:NM_004088:exon1:c.G35A:p.R12Q	.	.	.	.	.	.	.	.	.	.	.	2776737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00561685230715	.	.	3.314e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs766910053	1.642e-05	1.71e-05	1.634e-05	1.65e-05	0.0004	1.111e-05	9.33e-06	0.0002	0.0002	0	0	0	0.0004	0	0	5.396e-06	1.656e-05	2.319e-05	2.629e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	6.818e-05	2.854e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0002	0.133	0.26409	T	0.168	0.30926	T	0.024	0.21238	B	0.008	0.18489	B	0.007756	0.31217	N	0.337649	0.896118	0.27791	N	2.245	0.63543	M	2.75	0.11622	T	-0.72	0.20358	N	0.154	0.18784	-1.0821	0.06946	T	0.030	0.12848	T	10	0.06679374	0.09212	T	0.005617	0.14530	T	0.023	0.04649	0.243	0.17677	0.427940940899	0.42412	0.4412188076085406	0.44038	0.11468498587	0.12937	0.378552019596	0.22051	T	0.173362	0.52220	T	-0.437415	0.01339	T	-0.509715	0.21346	T	0.117824284351679	0.14215	T	0.791221	0.43226	T	0.29613313	0.52555	0.123202704	0.29711	0.29613313	0.52555	0.123202704	0.29711	-3.503	0.16529	T	.	.	0.094	0.16929	B	.;.	.;.	3.382709	0.46799	22.4	0.99738656553816285	0.83337	0.75805	0.37135	D	AEFBI	0.408788	0.48033	N	-0.077319385885982	0.38388	2.247635	0.0502377755752767	0.42083	2.539291	0.99997900860832	0.50053	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	4.32	0.50899	3.062000	0.49664	2.207000	0.31336	0.676000	0.76740	1.000000	0.71638	0.997000	0.33255	0.895000	0.43227	0.0:0.0:0.6537:0.3463	10.754	0.45427	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	384.33	34	chr10	96304532	.	G	A	384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=599;ExcessHet=0;FS=10.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.616;SOR=1.431	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	18	0	1	0
chr10	96386194	96386194	G	C	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon15:c.C1874G:p.T625S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0105672562207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.354	0.17268	T	0.042	0.21471	B	0.092	0.30031	B	0.000256	0.46924	D	0.000000	0.985936	0.40356	D	1.095	0.27400	L	2.1	0.19990	T	-1.65	0.39503	N	0.323	0.36359	-1.0910	0.05367	T	0.057	0.24055	T	10	0.24980503	0.42297	T	0.010567	0.27259	T	0.102	0.29158	0.695	0.83219	0.262175524916	0.25828	0.44130410539600634	0.44047	0.145945834864	0.16482	0.626796960831	0.56691	T	0.034197	0.23226	T	-0.276098	0.11085	T	-0.634372	0.10084	T	0.69792503118515	0.40620	D	0.79912	0.44420	T	0.10695693	0.25292	0.15484564	0.36324	0.10695693	0.25291	0.15484564	0.36323	-5.867	0.45153	T	.	.	0.076	0.05756	B	.	.	2.837516	0.37425	20.5	0.98831202785233319	0.46952	0.97588	0.75737	D	AEFDBI	0.826771	0.74619	D	0.0118623277304357	0.42393	2.553514	0.150776523755911	0.47182	2.952371	0.160693407935063	0.17588	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.98	4.07	0.46726	5.677000	0.67810	8.553000	0.77536	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1425:0.8574:0.0	15.021	0.71291	530	0.73653	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1111.33	122	chr10	96386194	.	G	C	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.087;DP=753;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=1.46;SOR=0.981	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr10	97366167	97366167	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon26:c.G3158A:p.R1053Q,RRP12:NM_001145114:exon27:c.G3275A:p.R1092Q,RRP12:NM_015179:exon29:c.G3458A:p.R1153Q	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	.	0.0031	0.00159744	0.0046	0.0019	0.0045	0	0.0133	0.0051	0.0088	0.0031	0.004366	675	154602	rs139305944	0.0049	0.0050	0.0050	0.0049	0.0050	0.0048	0.0048	0.0049	0.0049	0.0008	0.0024	0.0108	0	0.0130	0.0005	0.0050	0.0048	0.0031	0.0039	0.0039	0.0034	0.0045	0.0048	0.0037	0.0036	0.0044	0.0042	0.0010	0.0132	0.0006	0.0072	0	0.0154	0	0.0048	0.0014	0.0029	0.004	0.65419	D	0.005	0.92824	D	1.0	0.90584	D	0.982	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.88	0.46412	T	-3.37	0.66896	D	0.925	0.92901	-0.1909	0.77905	T	0.353	0.71619	T	10	0.01132524	0.00248	T	.	.	.	0.425	0.73299	.	.	0.793235099267	0.79131	0.6268899746400892	0.62621	0.725541865451	0.62459	0.48590940237	0.36872	T	0.371251	0.73565	T	-0.153168	0.27816	T	0.00802426	0.70855	D	0.0336146618345535	0.02573	T	0.977902	0.92154	D	0.51728725	0.68103	0.35235226	0.60814	0.51728725	0.68104	0.35235226	0.60814	-10.074	0.74354	D	.	.	0.593	0.68570	P	.;.;.;.;.	.;.;.;.;.	5.480452	0.91376	32	0.99946734142647831	0.99913	0.96391	0.68909	D	AEFDBCIJ	0.866318	0.78570	D	0.757458941356287	0.83390	8.004957	0.674876147030588	0.80476	7.307179	0.999999999976639	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.19	4.28	0.50183	7.185000	0.77253	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8451:0.1549:0.0	13.697	0.62065	442	0.79946	.;.;.;.;.	RRP12	Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1301.33	34	chr10	97366167	.	C	T	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=912;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.07;SOR=0.922	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	18	0	1	0
chr10	97656887	97656887	G	A	exonic	PI4K2A	.	nonsynonymous SNV	PI4K2A:NM_018425:exon4:c.G835A:p.A279T	.	428	1086	8	0	0	8	0.00366972	.	.	.	2330173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.0385260531178	0.0011	0.000798722	0.0010	0.0002	0.0013	0	0	0.0014	0.0022	0.0002	0.0008861	137	154602	rs146387356	0.0008	0.0008	0.0008	0.0009	0.0081	0.0008	0.0008	0.0063	0.0056	0.0004	0.0019	0.0064	0	0	0.0081	0.0007	0.0018	0.0002	0.0009	0.0009	0.0009	0.0009	0.0039	0.0008	0.0007	0.0031	0.0028	0.0002	0	0.0039	0.0058	0	0	0.0136	0.0006	0.0019	0	0.257	0.20306	T	0.58	0.12884	T	0.013	0.16609	B	0.065	0.27321	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.575	0.15311	N	-2.06	0.85875	D	-0.86	0.23372	N	0.34	0.41557	-0.1398	0.79169	T	0.441	0.77884	T	10	0.010307252	0.00230	T	0.038526	0.58275	D	0.378	0.69612	.	.	0.63942624558	0.63646	0.7111429399500546	0.71056	1.11704407998	0.78198	0.747226834297	0.74038	T	0.067184	0.33137	T	-0.230558	0.16574	T	-0.128584	0.61091	T	0.0389464034188492	0.03500	T	0.949705	0.80662	D	0.2664319	0.49713	0.19563064	0.43250	0.2664319	0.49712	0.19563064	0.43249	-6.639	0.51350	T	.	.	0.115	0.23113	B	.;.	.;.	3.802935	0.54811	23.5	0.99674309529827965	0.78782	0.94820	0.62442	D	AEFDBCI	0.719821	0.67058	D	0.205844904202865	0.51480	3.329064	0.359061182918758	0.59056	4.080275	0.999999999999968	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.940000	0.75726	11.812000	0.96965	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.111	0.93302	512	0.75040	.;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.045455	0.017663	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1636.33	34	chr10	97656887	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-1.256;SOR=0.69	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1298	18	0	1	0
chr10	97917556	97917556	C	T	exonic	CRTAC1	.	nonsynonymous SNV	CRTAC1:NM_001206528:exon5:c.G659A:p.R220Q,CRTAC1:NM_018058:exon5:c.G659A:p.R220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00275187285865	7.7e-05	.	7.471e-05	0	8.654e-05	0	0	7.529e-05	0	0.0002	5.82e-05	9	154602	rs370424839	2.896e-05	3.215e-05	2.739e-05	3.055e-05	8.417e-05	2.168e-05	1.923e-05	3.89e-05	2.742e-05	5.997e-05	2.282e-05	0	5.086e-05	0	0	2.533e-05	3.335e-05	8.417e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.417	0.19304	T	0.023	0.25584	B	0.003	0.16862	B	0.007906	0.31126	N	0.340848	0.854634	0.28446	N	1.545	0.39105	L	1.99	0.21666	T	-0.85	0.23156	N	0.157	0.20129	-1.0532	0.13520	T	0.031	0.13330	T	10	0.05268389	0.05342	T	0.002752	0.05694	T	0.048	0.13305	.	.	0.192905019026	0.18896	0.485088489775544	0.48428	0.380978579987	0.39459	0.195918902755	0.00348	T	0.023092	0.34785	T	-0.487994	0.00667	T	-0.690437	0.06364	T	0.0334691366062593	0.02549	T	0.762724	0.38847	T	0.044407852	0.07093	0.044554695	0.05798	0.044407852	0.07093	0.044554695	0.05798	-4.849	0.35157	T	.	.	0.062	0.01645	B	.;.;.;.	.;.;.;.	1.518718	0.19502	14.29	0.90153109450257962	0.19431	0.65443	0.32739	D	AEFBI	0.190954	0.31817	N	-1.00081331290421	0.08587	0.4031988	-0.847774850041918	0.13341	0.6915461	0.0233556780917306	0.13501	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.28	1.23	0.20358	0.841000	0.27267	-3.318000	0.02880	-0.987000	0.01865	0.977000	0.34929	0.000000	0.08366	0.837000	0.39485	0.0:0.7828:0.0:0.2172	12.362	0.54537	235	0.90838	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1692.33	33	chr10	97917556	.	C	T	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=755;ExcessHet=0;FS=5.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.03;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr10	98208913	98208913	A	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.A799G:p.T267A,R3HCC1L:NM_001351013:exon3:c.A799G:p.T267A,R3HCC1L:NM_001256620:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351012:exon4:c.A799G:p.T267A,R3HCC1L:NM_001351017:exon4:c.A799G:p.T267A,R3HCC1L:NM_014472:exon4:c.A799G:p.T267A,R3HCC1L:NM_001256619:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351015:exon5:c.A799G:p.T267A,R3HCC1L:NM_138469:exon5:c.A799G:p.T267A,R3HCC1L:NM_001351011:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351014:exon6:c.A799G:p.T267A,R3HCC1L:NM_001351010:exon7:c.A799G:p.T267A	.	435	1059	27	1	0	29	0.0135072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0051	0.0071885	0.0078	0.0011	0.0047	0	0.0014	0.0080	0.0066	0.0205	0.0076454	1182	154602	rs34530959	0.0086	0.0086	0.0082	0.0090	0.0201	0.0085	0.0084	0.0193	0.0190	0.0012	0.0037	0.0059	2.52e-05	0.0012	0.0080	0.0089	0.0076	0.0201	0.0059	0.0059	0.0062	0.0056	0.0232	0.0056	0.0055	0.0197	0.0184	0.0013	0.0463	0.0038	0.0066	0	0.0007	0	0.0086	0.0099	0.0232	0.137	0.25979	T	0.6	0.08273	T	0.032	0.20242	B	0.014	0.16862	B	0.166693	0.03079	N	1.629900	1	0.08975	N	1.1	0.28011	L	3.25	0.06762	T	-0.6	0.17834	N	0.044	0.01825	-1.0010	0.29631	T	0.011	0.04274	T	9	0.0027643144	0.00043	T	.	.	.	0.007	0.00512	.	.	0.0482279557977	0.04254	0.023350799503570732	0.02287	0.0174654816971	0.01699	0.264840126038	0.05481	T	0.002634	0.02024	T	-0.740741	0.00020	T	-0.821205	0.01428	T	0.00381247563723271	0.00040	T	0.425957	0.11436	T	0.02124399	0.00716	0.034707204	0.02585	0.02124399	0.00716	0.034707204	0.02585	-3.417	0.15286	T	.	.	0.065	0.04723	B	.;.;.;.	.;.;.;.	-1.490040	0.00301	0.005	0.51185045223122472	0.04517	0.00405	0.02019	N	AEFBI	0.013632	0.00188	N	-1.46056604904717	0.02135	0.09394884	-1.56025792612638	0.01906	0.08694176	0.999778230842102	0.42865	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	-7.45	0.01229	-1.589000	0.02208	-4.122000	0.02330	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2533:0.1186:0.6281:0.0	9.844	0.40181	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2190.33	33	chr10	98208913	.	A	G	2190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=803;ExcessHet=0;FS=1.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.448;SOR=0.736	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2204,0,2267	18	0	1	0
chr10	98209092	98209092	T	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.T978G:p.S326R,R3HCC1L:NM_001351013:exon3:c.T978G:p.S326R,R3HCC1L:NM_001256620:exon4:c.T978G:p.S326R,R3HCC1L:NM_001351012:exon4:c.T978G:p.S326R,R3HCC1L:NM_001351017:exon4:c.T978G:p.S326R,R3HCC1L:NM_014472:exon4:c.T978G:p.S326R,R3HCC1L:NM_001256619:exon5:c.T978G:p.S326R,R3HCC1L:NM_001351015:exon5:c.T978G:p.S326R,R3HCC1L:NM_138469:exon5:c.T978G:p.S326R,R3HCC1L:NM_001351011:exon6:c.T978G:p.S326R,R3HCC1L:NM_001351014:exon6:c.T978G:p.S326R,R3HCC1L:NM_001351010:exon7:c.T978G:p.S326R	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0043429087227	0.0035	0.000998403	0.0033	0.0007	0.0026	0	0.0006	0.0052	0.0022	0.0007	0.0032018	495	154602	rs139345451	0.0042	0.0042	0.0043	0.0042	0.0050	0.0041	0.0041	0.0049	0.0049	0.0006	0.0032	0.0023	0	0.0009	0.0009	0.0050	0.0039	0.0008	0.0029	0.0029	0.0033	0.0024	0.0051	0.0026	0.0025	0.0042	0.0039	0.0009	0	0.0051	0.0012	0	0.0006	0.0034	0.0043	0.0047	0.0012	0.002	0.72154	D	0.118	0.39492	T	0.456	0.36269	P	0.053	0.25678	B	0.159702	0.17702	N	0.543980	1	0.20203	N	1.1	0.28011	L	3.21	0.07125	T	-0.77	0.21429	N	0.156	0.17553	-0.9779	0.35481	T	0.069	0.28313	T	9	0.005889237	0.00132	T	0.004343	0.10561	T	0.039	0.10176	0.213	0.13210	0.213573922156	0.20996	0.050919005853598535	0.05033	0.0207763156015	0.02049	0.372621655464	0.21207	T	0.003613	0.03020	T	-0.568683	0.00225	T	-0.587731	0.13863	T	0.0128816095111123	0.00221	T	0.69643	0.30590	T	0.06269144	0.13121	0.07832996	0.17535	0.06269144	0.13120	0.07832996	0.17535	-5.356	0.40494	T	.	.	0.234	0.57034	B	.;.;.;.	.;.;.;.	1.250015	0.16465	12.56	0.95126072196423184	0.26230	0.03014	0.07887	N	AEFDGBI	0.028605	0.02550	N	-0.781969025024232	0.13779	0.681354	-0.943933308972867	0.11064	0.5613749	0.99908465806493	0.38397	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.674467	0.66132	0	.	.	5.18	-4.4	0.03349	-0.009000	0.12703	0.917000	0.22674	0.665000	0.62972	0.105000	0.22895	0.770000	0.26692	0.111000	0.18785	0.0:0.1692:0.5515:0.2793	7.355	0.25887	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2961.33	210	chr10	98209092	.	T	G	2961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=908;ExcessHet=0;FS=4.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.102;SOR=1.004	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr10	98209399	98209399	A	G	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.A1285G:p.R429G,R3HCC1L:NM_001351013:exon3:c.A1285G:p.R429G,R3HCC1L:NM_001256620:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001351012:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001351017:exon4:c.A1285G:p.R429G,R3HCC1L:NM_014472:exon4:c.A1285G:p.R429G,R3HCC1L:NM_001256619:exon5:c.A1285G:p.R429G,R3HCC1L:NM_001351015:exon5:c.A1285G:p.R429G,R3HCC1L:NM_138469:exon5:c.A1285G:p.R429G,R3HCC1L:NM_001351011:exon6:c.A1285G:p.R429G,R3HCC1L:NM_001351014:exon6:c.A1285G:p.R429G,R3HCC1L:NM_001351010:exon7:c.A1285G:p.R429G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00102066701888	.	.	2.477e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs766343555	6.158e-06	6.156e-06	1.362e-06	1.1e-05	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	0	6.572e-06	1.313e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.43	0.09543	T	0.417	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.054383	0.02060	N	1.902050	1	0.18198	N	0.77	0.19370	N	3.18	0.07478	T	-0.73	0.20576	N	0.056	0.02759	-1.0662	0.10269	T	0.017	0.06998	T	9	0.040986508	0.02714	T	0.001021	0.01120	T	0.022	0.04323	0.417	0.45709	0.141422826196	0.13715	0.04733784834141523	0.04676	0.0183222346549	0.01791	0.207748919725	0.00719	T	0.002224	0.01623	T	-0.513129	0.00482	T	-0.867193	0.00769	T	0.0254015118103888	0.01326	T	0.461754	0.13398	T	0.06574785	0.14082	0.05039574	0.07900	0.06574785	0.14081	0.05039574	0.07900	-2.154	0.03823	T	.	.	0.074	0.16756	B	.;.;.;.	.;.;.;.	-1.604118	0.00238	0.004	0.35071520874970907	0.02181	0.00829	0.03338	N	AEFGBI	0.024481	0.01522	N	-1.95707231354902	0.00261	0.01120232	-2.09986902394197	0.00187	0.008210614	0.999999999596431	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.38	-10.8	0.00171	-1.999000	0.01557	-0.879000	0.07072	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2964:0.2658:0.4378:0.0	9.763	0.39708	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2292.33	123	chr10	98209399	.	A	G	2292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.447;DP=927;ExcessHet=0;FS=7.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.741;SOR=1.174	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr10	98209741	98209741	G	C	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.G1627C:p.V543L,R3HCC1L:NM_001351013:exon3:c.G1627C:p.V543L,R3HCC1L:NM_001256620:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001351012:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001351017:exon4:c.G1627C:p.V543L,R3HCC1L:NM_014472:exon4:c.G1627C:p.V543L,R3HCC1L:NM_001256619:exon5:c.G1627C:p.V543L,R3HCC1L:NM_001351015:exon5:c.G1627C:p.V543L,R3HCC1L:NM_138469:exon5:c.G1627C:p.V543L,R3HCC1L:NM_001351011:exon6:c.G1627C:p.V543L,R3HCC1L:NM_001351014:exon6:c.G1627C:p.V543L,R3HCC1L:NM_001351010:exon7:c.G1627C:p.V543L	.	425	1058	39	0	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0038	0.00379393	0.0038	0.0014	0.0050	0	0.0011	0.0052	0.0055	0.0017	0.003978	615	154602	rs148867373	0.0052	0.0052	0.0053	0.0051	0.0170	0.0051	0.0051	0.0143	0.0133	0.0017	0.0042	0.0100	2.52e-05	0.0012	0.0170	0.0058	0.0057	0.0020	0.0037	0.0037	0.0040	0.0034	0.0055	0.0034	0.0033	0.0050	0.0048	0.0011	0	0.0048	0.0078	0.0002	0.0018	0.0136	0.0055	0.0080	0.0008	0.01	0.56456	D	0.094	0.41239	T	0.029	0.19866	B	0.017	0.18140	B	0.278874	0.14983	N	0.624373	1	0.18198	N	2.455	0.71248	M	2.8	0.11082	T	-1.03	0.27052	N	0.051	0.02272	-1.0001	0.29888	T	0.013	0.05225	T	9	0.0033772886	0.00059	T	.	.	.	0.009	0.00846	0.165	0.06955	0.117506650769	0.11410	0.03523678591436901	0.03470	0.0179236615725	0.01753	0.29893258214	0.10242	T	0.017047	0.13973	T	-0.635718	0.00088	T	-0.681797	0.06875	T	0.00776321408992993	0.00091	T	0.776522	0.40874	T	0.02987695	0.02556	0.07009616	0.14850	0.02987695	0.02556	0.07009616	0.14850	-3.339	0.14245	T	.	.	0.137	0.31482	B	.;.;.;.	.;.;.;.	-0.093127	0.03683	0.745	0.81718824883297669	0.13825	0.06191	0.12176	N	AEFBI	0.044330	0.07119	N	-1.13936193443589	0.05956	0.2729676	-1.23120727583972	0.05416	0.2579731	0.995126147704923	0.33964	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-2.64	0.05757	-0.466000	0.06749	-0.520000	0.08695	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.6126:0.0:0.3874:0.0	10.172	0.42093	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.015152	0.033967	0.032164	0.000000	0.051724	0.003049	0.007576	0.02632	1493.33	123	chr10	98209741	.	G	C	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=1052;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.474;SOR=0.719	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr10	98390715	98390715	T	C	exonic	PYROXD2	.	nonsynonymous SNV	PYROXD2:NM_032709:exon12:c.A1175G:p.N392S	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00574299962437	.	0.000599042	7.672e-05	0.0001	0	0	0	6.79e-05	0	0.0002	7.12e-05	11	154602	rs577553113	4.255e-05	4.446e-05	3.548e-05	4.969e-05	0.0014	3.387e-05	3.074e-05	0.0007	0.0005	0.0001	4.532e-05	0	0	0	0.0014	2.794e-05	9.978e-05	0.0001	5.915e-05	5.907e-05	9e-05	2.689e-05	0.0002	3.078e-05	2.21e-05	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0002	0.21	0.19639	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.022227	0.26675	N	0.384755	0.909799	0.27531	N	2.365	0.68172	M	1.89	0.23688	T	-2.93	0.61284	D	0.139	0.13769	-1.0173	0.24592	T	0.040	0.17234	T	10	0.024946332	0.00705	T	0.005743	0.14892	T	0.055	0.15663	0.421	0.46365	0.231873229951	0.22792	0.19473347168081784	0.19391	0.0296334331242	0.03046	0.28323122859	0.07947	T	0.049666	0.28373	T	-0.487733	0.00669	T	-0.673943	0.07357	T	0.0549089275300503	0.06343	T	0.785321	0.42297	T	0.04603247	0.07637	0.07285159	0.15764	0.04603247	0.07637	0.07285159	0.15763	-6.044	0.46646	T	.	.	0.077	0.06387	B	.	.	0.315904	0.06908	3.447	0.5865479996834474	0.06042	0.61669	0.31552	D	AEFDGBCI	0.226012	0.35002	N	-1.02820692437696	0.08022	0.3746905	-1.02810430002141	0.09170	0.4547118	0.999989869653957	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.96	-1.67	0.07798	1.426000	0.34478	-4.887000	0.01941	-0.133000	0.13014	0.933000	0.32380	0.000000	0.08366	0.015000	0.10482	0.0:0.3289:0.0:0.6711	10.037	0.41308	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1880.33	35	chr10	98390715	.	T	C	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=775;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.161;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr10	98415083	98415083	G	-	exonic	PYROXD2	.	frameshift deletion	PYROXD2:NM_032709:exon1:c.53delC:p.P18Rfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2027.29	38	chr10	98415082	.	CG	C	2027.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=878;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.482;SOR=0.583	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr10	98434018	98434018	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322480:exon5:c.C329T:p.P110L,HPS1:NM_001322481:exon5:c.C329T:p.P110L,HPS1:NM_001322482:exon5:c.C329T:p.P110L,HPS1:NM_001322483:exon5:c.C103T:p.R35C,HPS1:NM_001322484:exon5:c.C103T:p.R35C,HPS1:NM_001322485:exon5:c.C103T:p.R35C,HPS1:NM_000195:exon6:c.C472T:p.R158C,HPS1:NM_001322476:exon6:c.C472T:p.R158C,HPS1:NM_001322477:exon6:c.C472T:p.R158C,HPS1:NM_001322478:exon6:c.C472T:p.R158C,HPS1:NM_001322479:exon6:c.C472T:p.R158C,HPS1:NM_001322490:exon6:c.C472T:p.R158C,HPS1:NM_001322491:exon6:c.C472T:p.R158C,HPS1:NM_001322492:exon6:c.C472T:p.R158C,HPS1:NM_182639:exon6:c.C472T:p.R158C	Hermansky-Pudlak syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	175334	Hermansky-Pudlak_syndrome|not_specified	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0279844830945	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs727505003	3.555e-06	7.525e-06	2.809e-06	4.32e-06	3.114e-05	1.04e-06	7.6e-07	7.4e-07	2e-07	3.114e-05	2.733e-05	0	0	0	0	2.77e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.079	0.33753	T	0.149	0.38891	T	0.027	0.77913	B	0.024	0.63994	B	0.006221	0.32193	N	0.384490	0.996814	0.44980	D	1.545	0.39105	L	1.49	0.31470	T	-3.41	0.68651	D	0.331	0.51226	-0.9679	0.37632	T	0.136	0.45106	T	10	0.23036107	0.39986	T	0.027984	0.50729	D	0.047	0.12962	0.418	0.45873	0.419090007872	0.41522	0.22885341292917807	0.22800	0.710442060471	0.61682	0.260146856308	0.04907	T	0.393656	0.75300	T	-0.108446	0.35024	T	-0.393551	0.34135	T	0.955770790576935	0.64591	D	0.916908	0.70254	D	0.10663398	0.25214	0.08129059	0.18460	0.10663398	0.25214	0.08129059	0.18460	-8.488	0.65267	D	0.29433603664086594	0.39120	0.095	0.15206	B	.;.;.;.	.;.;.;.	4.324245	0.66207	24.9	0.99906456825850265	0.97726	0.97566	0.75590	D	AEFDBI	0.729076	0.67690	D	0.0494883277367126	0.44117	2.691796	0.136387742077769	0.46425	2.88868	0.947001190810767	0.27732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.16	4.24	0.49486	3.633000	0.54036	6.677000	0.56298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.1448:0.0:0.8552:0.0	12.172	0.53471	836	0.38045	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2070.33	207	chr10	98434018	.	G	A	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=984;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.665;SOR=0.591	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr10	98490138	98490138	T	A	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166245:exon8:c.A1043T:p.H348L,HPSE2:NM_001166244:exon9:c.A1205T:p.H402L,HPSE2:NM_001166246:exon10:c.A1379T:p.H460L,HPSE2:NM_021828:exon10:c.A1379T:p.H460L	Urofacial syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0198211317659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776630003	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.39575	T	0.238	0.43159	T	0.454	0.39027	P	0.078	0.34892	B	0.000003	0.62929	D	0.060464	0.999994	0.58761	D	1.7	0.43825	L	0.97	0.42502	T	-3.74	0.71042	D	0.705	0.70878	-1.0615	0.11385	T	0.090	0.34573	T	10	0.33014223	0.50257	T	0.019821	0.42278	T	0.103	0.29403	0.338	0.32816	0.292423486923	0.28857	0.6909384775454883	0.69033	0.288955871697	0.31300	0.753919363022	0.75025	T	0.450387	0.79152	T	-0.0712214	0.41131	T	-0.340081	0.40336	T	0.744033336639404	0.42956	D	0.855714	0.54342	D	0.3062042	0.53455	0.34872052	0.60508	0.3062042	0.53455	0.34872052	0.60507	-6.267	0.51007	T	.	.	0.256	0.55417	B	.;.;.;.;.	.;.;.;.;.	4.188267	0.63110	24.5	0.97520503793793123	0.34400	0.78142	0.38509	D	AEFDBCIJ	0.706416	0.66149	D	0.105266773562861	0.46708	2.907097	0.255400208393498	0.52956	3.467221	0.999994341426639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	4.556000	0.60483	7.904000	0.73702	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.800	0.78220	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1824.33	33	chr10	98490138	.	T	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=774;ExcessHet=0;FS=5.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.88;SOR=0.377	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	99235729	99235729	C	G	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166244:exon1:c.G74C:p.G25A,HPSE2:NM_001166245:exon1:c.G74C:p.G25A,HPSE2:NM_001166246:exon1:c.G74C:p.G25A,HPSE2:NM_021828:exon1:c.G74C:p.G25A	Urofacial syndrome 1, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00893620246655	.	0.000199681	0.0002	9.814e-05	0	0	0	0	0	0.0012	0.0001423	22	154602	rs550903865	8.824e-05	8.893e-05	5.309e-05	0.0001	0.0014	7.555e-05	7.101e-05	0.0012	0.0011	0	2.236e-05	0	0	0	0.0003	1.799e-06	4.967e-05	0.0014	4.603e-05	4.594e-05	1.286e-05	8.072e-05	0.0012	2.111e-05	1.528e-05	0.0005	0.0004	0	0	6.543e-05	0	0	0	0	0	0	0.0012	1.0	0.00964	T	0.91	0.02961	T	0.001	0.13644	B	0.003	0.12133	B	0.005762	0.32522	N	0.252278	0.987598	0.24501	N	0	0.06538	N	7.27	0.00425	T	0.08	0.06026	N	0.226	0.29081	-0.9601	0.39162	T	0.001	0.00287	T	10	0.017368346	0.00370	T	0.008936	0.23559	T	0.185	0.45933	0.217	0.13788	0.183819452728	0.17975	0.46707013777892437	0.46626	0.175392714489	0.19744	0.472337424755	0.35001	T	0.150334	0.48976	T	-0.528828	0.00390	T	-0.56778	0.15653	T	0.0315200910286824	0.02229	T	0.834817	0.51030	T	0.045171548	0.07349	0.12109389	0.29219	0.045171548	0.07348	0.12109389	0.29218	-3.056	0.11000	T	.	.	0.056	0.01449	B	.;.;.;.;.	.;.;.;.;.	1.567766	0.20075	14.58	0.99176400423080668	0.54556	0.89311	0.49699	D	AEFDBCI	0.793614	0.72157	D	-0.349160827188076	0.27303	1.496898	-0.117028637088298	0.34704	1.999241	0.999991856895582	0.74766	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.530356	0.10902	0	.	.	5.8	4.69	0.58546	4.355000	0.59199	3.806000	0.39889	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8312:0.1688:0.0:0.0	11.615	0.50341	387	0.83408	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1915.33	35	chr10	99235729	.	C	G	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=798;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.677;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr10	99387907	99387907	G	A	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_001345888:exon8:c.G2428A:p.G810R,CNNM1:NM_020348:exon8:c.G2428A:p.G810R,CNNM1:NM_001345887:exon9:c.G2491A:p.G831R,CNNM1:NM_001345889:exon9:c.G2491A:p.G831R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0160896155418	.	.	1.669e-05	0	0	0	0	1.514e-05	0	6.32e-05	1.29e-05	2	154602	rs778879185	9.58e-06	1.026e-05	6.808e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	2.52e-05	0	0.0002	8.095e-06	1.657e-05	2.321e-05	6.572e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.124	0.27426	T	0.53	0.10103	T	0.403	0.34918	B	0.038	0.23361	B	0.000754	0.42006	D	0.000000	0.959364	0.38123	D	0.925	0.23481	L	1.45	0.32482	T	-0.92	0.24676	N	0.205	0.22742	-1.0556	0.12882	T	0.040	0.17020	T	10	0.082811385	0.13707	T	0.01609	0.37172	T	0.033	0.08068	0.1	0.01484	0.043077524339	0.03247	0.3091984891632838	0.30832	.	.	0.526243507862	0.42505	T	0.004955	0.04374	T	-0.189903	0.22273	T	-0.510559	0.21257	T	0.330927461385727	0.26262	T	0.792521	0.43410	T	0.16525634	0.36785	0.11191935	0.27001	0.16525634	0.36785	0.11191935	0.27001	-4.765	0.34180	T	.	.	0.091	0.13174	B	.	.	2.765229	0.36281	20.2	0.99444581872748261	0.64971	0.68118	0.33682	D	AEFDBCI	0.233792	0.35666	N	-0.0865354013972079	0.37983	2.217774	0.0435549932242322	0.41760	2.514383	0.999999893475642	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	3.273000	0.51326	7.787000	0.68803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0884:0.0:0.9116:0.0	12.429	0.54897	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	33	chr10	99387907	.	G	A	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.577;DP=710;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.56;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr10	99388266	99388266	T	C	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.T2639C:p.L880P,CNNM1:NM_001345887:exon10:c.T2702C:p.L901P	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0529983021522	0.0004	0.00139776	0.0013	0.0002	9.029e-05	0.0001	0	0.0002	0.0034	0.0083	0.0010931	169	154602	rs138832883	0.0006	0.0006	0.0004	0.0009	0.0088	0.0006	0.0006	0.0083	0.0081	2.987e-05	2.236e-05	0.0016	2.519e-05	0	0.0019	7.016e-05	0.0006	0.0088	0.0003	0.0003	0.0001	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	6.533e-05	0.0012	0	0	0	8.82e-05	0	0.0066	0.008	0.58626	D	0.161	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	0.453184	0.12482	N	0.718644	0.999999	0.08975	N	1.245	0.31408	L	-1.92	0.84773	D	-0.36	0.13035	N	0.29	0.32812	-0.7968	0.55333	T	0.309	0.67931	T	10	0.0035519302	0.00064	T	0.052998	0.65293	D	0.047	0.12962	.	.	0.147330786459	0.14319	0.2549352564454432	0.25407	.	.	0.404342293739	0.25673	T	0.003406	0.02809	T	-0.380355	0.03100	T	-0.313581	0.43274	T	0.0100159268306949	0.00134	T	0.659534	0.26859	T	0.26436305	0.49503	0.243544	0.49800	0.26436305	0.49503	0.243544	0.49799	-3.301	0.13750	T	.	.	0.068	0.02927	B	.	.	1.782537	0.22660	15.71	0.93714172311033161	0.23633	0.28960	0.23695	N	AEFDBCI	0.178969	0.30625	N	-0.840153869566326	0.12293	0.5983167	-0.827759026247985	0.13824	0.7191829	0.998585864580615	0.37247	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.67	0.661	0.17044	1.256000	0.32524	1.329000	0.25656	0.665000	0.62972	0.732000	0.28943	0.719000	0.26340	0.272000	0.23818	0.0:0.1801:0.1646:0.6553	4.529	0.11399	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	2244.33	33	chr10	99388266	.	T	C	2244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.655;DP=807;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.703;SOR=0.455	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M,ENTPD7:NM_020354:exon3:c.G85A:p.V29M,ENTPD7:NM_001349962:exon4:c.G91A:p.V31M	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.014620	0.000000	0.017241	0.006098	0.007576	0.05263	1878.83	34	chr10	99661522	.	G	A	1878.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.073;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.195;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1242	17	0	2	0
chr10	99716469	99716469	G	T	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001372025:exon8:c.C998A:p.S333Y	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	0	1510	12	0	0	12	0.00395778	0.0005	0.062	.	140716	not_provided|Leigh_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0020	0	8.77e-05	0	0	0	0	0.0148	0.0016947	262	154602	rs542092025	0.0010	0.0010	0.0005	0.0015	0.0158	0.0009	0.0009	0.0151	0.0148	0	0	0	0	0	0.0012	9.238e-07	0.0005	0.0158	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	0	0	0	0	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	42	chr10	99716469	.	G	T	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.802;DP=668;ExcessHet=0;FS=13.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.686;SOR=0.042	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr10	99797306	99797306	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon7:c.G842A:p.S281N	Dubin-Johnson syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	195580	not_specified|not_provided|Dubin-Johnson_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	.	0.0052	0.00399361	0.0066	0.0024	0.0053	0.0001	0.0088	0.0092	0.0093	0.0020	0.005595	865	154602	rs56131651	0.0068	0.0069	0.0070	0.0067	0.0111	0.0067	0.0067	0.0089	0.0081	0.0016	0.0053	0.0091	2.523e-05	0.0067	0.0111	0.0076	0.0065	0.0023	0.0054	0.0054	0.0053	0.0055	0.0074	0.0051	0.0050	0.0069	0.0067	0.0016	0.0099	0.0064	0.0081	0.0004	0.0073	0.0068	0.0074	0.0095	0.0027	0.142	0.25457	T	0.281	0.21612	T	0.883	0.48537	P	0.4	0.44481	B	0.000134	0.49741	D	0.134180	0.960121	0.38163	D	0	0.06538	N	0.77	0.49642	T	-0.51	0.15986	N	0.306	0.34552	-0.8202	0.53921	T	0.109	0.39509	T	10	0.0060174763	0.00135	T	.	.	.	0.112	0.31546	.	.	0.724806583605	0.72237	0.3081425537827062	0.30727	0.15302378806	0.17264	0.481644958258	0.36283	T	0.060603	0.31430	T	-0.515271	0.00468	T	-0.5078	0.21541	T	0.02477180599758	0.01243	T	0.721628	0.33490	T	0.11233808	0.26539	0.13723007	0.32808	0.1276766	0.29870	0.13723007	0.32807	-3.653	0.18627	T	.	.	0.194	0.41526	B	.;.	.;.	3.853465	0.55833	23.7	0.98265279446445175	0.39703	0.88793	0.48893	D	AEFBCI	0.679332	0.64339	D	0.349949557232264	0.58738	4.047859	0.412236943043777	0.62325	4.446194	0.999999982469538	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	3.271000	0.51311	11.807000	0.96822	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	15.121	0.72117	810	0.42761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.004076	0.000000	0.000000	0.017241	0.024390	0.007576	0.02632	887.33	33	chr10	99797306	.	G	A	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.864;SOR=0.607	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	18	0	1	0
chr10	99819263	99819263	G	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon19:c.G2614C:p.A872P	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0861583172957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.278	0.21812	T	0.002	0.09854	B	0.002	0.06944	B	0.901604	0.07359	N	1.042290	1	0.08975	N	1.905	0.50856	L	-2.57	0.89692	D	-0.63	0.18459	N	0.159	0.16586	-0.6652	0.62045	T	0.467	0.79422	T	10	0.100625366	0.18336	T	0.086158	0.74680	D	0.268	0.58254	0.267	0.21418	0.601523639021	0.59834	0.3591369973630948	0.35827	0.0438404211194	0.04719	0.319420903921	0.13333	T	0.054247	0.29669	T	-0.0939701	0.37419	T	-0.372758	0.36566	T	0.0534931718557039	0.06103	T	0.49515	0.15352	T	0.060914025	0.12554	0.11794685	0.28473	0.060914025	0.12554	0.11794685	0.28472	-4.129	0.25716	T	0.1696497336308229	0.21284	0.114	0.22644	B	.;.	.;.	1.348408	0.17559	13.23	0.72082953891603119	0.09850	0.49399	0.28424	N	AEFBCI	0.447909	0.50336	N	-1.23617480871956	0.04485	0.2025275	-1.18035483613932	0.06238	0.2996594	0.795112505101804	0.24085	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	0.225	0.14598	1.436000	0.34590	0.951000	0.22923	-0.886000	0.02417	0.985000	0.35982	0.999000	0.35428	0.056000	0.15673	0.3232:0.1024:0.5744:0.0	8.673	0.33323	753	0.51500	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	35.39	24	chr10	99819263	.	G	C	35.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.04;DP=552;ExcessHet=0;FS=12.755;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.733;SOR=3.797	GT:AD:DP:GQ:PL	0/0:35,0:35:10:0,10,666	16	0	1	2
chr10	99831784	99831784	G	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon22:c.G3057C:p.Q1019H	Dubin-Johnson syndrome, Autosomal recessive	1	1506	14	1	0	16	0.00528402	.	.	.	583351	ABCC2-related_disorder|not_provided|Dubin-Johnson_syndrome	.|MedGen:C3661900|MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	0.0587939584899	0.0005	0.000199681	0.0006	0	8.64e-05	0	0	0.0006	0	0.0016	0.0005045	78	154602	rs144521346	0.0003	0.0003	0.0003	0.0004	0.0052	0.0003	0.0003	0.0037	0.0032	0.0002	0.0001	0.0034	0	0	0.0052	0.0002	0.0009	0.0013	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0.0032	0	0	0	0.0003	0	0.0008	0.393	0.10730	T	0.161	0.31326	T	0.025	0.19245	B	0.076	0.28435	B	0.070371	0.21544	N	0.527625	0.98988	0.41043	D	1.5	0.37844	L	-2.54	0.89496	D	-0.27	0.11366	N	0.154	0.15888	-0.1731	0.78352	T	0.538	0.82931	D	10	0.014214784	0.00299	T	0.058794	0.67442	D	0.357	0.67782	0.456	0.52102	0.883164231789	0.88201	0.32830549651836577	0.32743	0.042648702244	0.04603	0.37381246686	0.21377	T	0.107564	0.41987	T	-0.243642	0.14888	T	-0.168303	0.57599	T	0.027423528729687	0.01605	T	0.705929	0.31637	T	0.19026788	0.40604	0.19523627	0.43190	0.19026788	0.40604	0.19523627	0.43189	-7.524	0.57779	D	0.3001190668525124	0.39742	0.292	0.52335	B	.;.	.;.	3.014754	0.40329	21.1	0.5748081435542477	0.05779	0.94190	0.60386	D	AEFBI	0.640369	0.61809	D	-0.146798566187133	0.35372	2.030803	-0.0360763199352493	0.38099	2.239832	0.999514425658563	0.40117	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.63	0.40741	2.231000	0.42654	5.112000	0.47521	0.616000	0.49467	0.996000	0.39380	1.000000	0.68203	0.398000	0.26737	0.1342:0.0:0.7327:0.1331	8.019	0.29556	706	0.57215	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1945.33	37	chr10	99831784	.	G	C	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=868;ExcessHet=0;FS=8.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.78;SOR=0.49	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr10	99851561	99851561	A	C	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon32:c.A4568C:p.Q1523P	Dubin-Johnson syndrome, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	737688	Dubin-Johnson_syndrome|not_provided	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	.	0.00359425	0.0030	0	0.0002	0	0	2.997e-05	0.0011	0.0216	0.002542	393	154602	rs533470370	0.0014	0.0014	0.0007	0.0021	0.0222	0.0013	0.0013	0.0213	0.0210	5.974e-05	0	0	0	0	0.0021	4.496e-06	0.0008	0.0222	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0151	0.121	0.27783	T	0.25	0.23707	T	0.604	0.39417	P	0.282	0.40384	B	0.405207	0.04558	N	1.311550	1	0.08975	N	1.99	0.53851	M	-0.22	0.66474	T	-2.41	0.52938	N	0.292	0.33030	-0.9168	0.45984	T	0.225	0.58932	T	10	0.0040664375	0.00079	T	.	.	.	0.090	0.26093	0.336	0.32491	0.729524097289	0.72712	0.7723649104897908	0.77186	0.0603774692045	0.06706	0.208390027285	0.00745	T	0.262701	0.63431	T	-0.435479	0.01375	T	-0.381392	0.35558	T	0.059594044646444	0.07104	T	0.912309	0.68816	D	0.23017433	0.45767	0.22096501	0.46890	0.23626389	0.46474	0.27575898	0.53515	-9.506	0.70896	D	0.7762701313830243	0.85672	0.193	0.41310	B	.;.	.;.	1.120746	0.15063	11.56	0.70518690297122566	0.09322	0.12455	0.17279	N	AEFBI	0.528918	0.55024	D	-0.824181082495823	0.12693	0.6203885	-0.941904875007996	0.11111	0.564088	0.999757642900822	0.42595	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.68	0.943	0.18655	-0.195000	0.09546	0.118000	0.14877	-0.067000	0.16409	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.6989:0.1454:0.1557:0.0	5.859	0.17986	731	0.54177	ABC transporter-like;ABC transporter-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	686.33	33	chr10	99851561	.	A	C	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=679;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.214;SOR=1.092	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	18	0	1	0
chr10	99898176	99898176	G	A	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon6:c.C1726T:p.H576Y,DNMBP:NM_001318327:exon6:c.C694T:p.H232Y,DNMBP:NM_015221:exon9:c.C2830T:p.H944Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.0842519476078	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs765817784	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.992	0.64738	D	0.847	0.60522	P	0.000171	0.48594	D	0.000000	1	0.81001	D	3.265	0.90016	M	-0.33	0.68329	T	-5.61	0.86686	D	0.776	0.77319	0.259	0.86888	D	0.569	0.84395	D	10	0.8250976	0.81693	D	0.084252	0.74287	D	0.687	0.88585	0.533	0.64148	0.880231576817	0.87905	0.7501361473322214	0.74960	0.651714769352	0.58392	0.603113293648	0.53343	T	0.391603	0.75149	T	0.259657	0.79498	D	0.232057	0.84771	D	0.985189378261566	0.76254	D	0.930707	0.74322	D	0.78674936	0.83071	0.77136254	0.86502	0.78674936	0.83073	0.77136254	0.86503	-10.725	0.78128	D	.	.	0.555	0.72931	A	.;.;.	.;.;.	4.968896	0.82213	27.7	0.99799930207321441	0.88461	0.99479	0.96535	D	AEFBI	0.911223	0.87020	D	0.958165840393507	0.94305	12.65503	0.922305860161398	0.96473	14.73964	0.999999999998343	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	9.911000	0.98680	11.792000	0.96402	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.542	0.95271	487	0.76954	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	34	chr10	99898176	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=849;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.057;SOR=0.864	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr10	99908090	99908090	G	A	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon3:c.C1355T:p.P452L,DNMBP:NM_001318327:exon3:c.C323T:p.P108L,DNMBP:NM_015221:exon6:c.C2459T:p.P820L	.	433	1073	15	1	0	17	0.00785945	.	.	.	3205900	DNMBP-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0013	0.00439297	0.0037	0.0009	0.0035	0	0.0002	0.0024	0.0033	0.0142	0.0035446	548	154602	rs114927649	0.0032	0.0032	0.0029	0.0034	0.0133	0.0031	0.0030	0.0126	0.0124	0.0009	0.0031	3.828e-05	0	0.0003	0.0026	0.0028	0.0026	0.0133	0.0021	0.0021	0.0022	0.0020	0.0104	0.0019	0.0018	0.0081	0.0073	0.0005	0.0055	0.0036	0	0	0	0.0068	0.0026	0.0047	0.0104	0.158	0.23905	T	0.394	0.15305	T	0.007	0.14184	B	0.011	0.15521	B	0.035886	0.24589	N	0.293194	0.96449	0.38410	D	0.645	0.16088	N	2.18	0.18875	T	-2.64	0.56630	D	0.191	0.20925	-1.0591	0.11981	T	0.076	0.30492	T	10	0.007874578	0.00179	T	.	.	.	0.142	0.37995	.	.	0.695313823607	0.69269	0.2963498523593624	0.29547	0.148289902815	0.16722	0.415621459484	0.27233	T	0.049016	0.28186	T	-0.373469	0.03422	T	-0.297563	0.44980	T	0.018373826929562	0.00555	T	0.893711	0.65919	D	0.08864106	0.20684	0.09831477	0.23435	0.08864106	0.20684	0.09831477	0.23435	-9.25	0.69292	D	.	.	0.115	0.29311	B	.;.;.	.;.;.	3.472754	0.48458	22.6	0.94403996972591642	0.24795	0.83904	0.42995	D	AEFBI	0.114773	0.22594	N	-0.363083730664651	0.26794	1.465106	-0.1508070723497	0.33378	1.908636	0.999908230800798	0.45458	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.99	3.96	0.45097	1.536000	0.35678	9.329000	0.80114	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0725:0.0972:0.6519:0.1784	7.425	0.26264	441	0.80015	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	950.33	34	chr10	99908090	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=717;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.31;SOR=0.604	GT:AD:DP:GQ:PL	0/1:49,42:91:99:964,0,1226	18	0	1	0
chr10	100075969	100075969	G	T	exonic	CPN1	.	nonsynonymous SNV	CPN1:NM_001308:exon2:c.C362A:p.T121K	Carboxypeptidase N deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0576831955681	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763408059	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.087541	1	0.81001	D	3.93	0.96317	H	2.59	0.13317	T	-5.72	0.87531	D	0.865	0.86191	-0.7864	0.55938	T	0.133	0.44661	T	10	0.96264994	0.95695	D	0.057683	0.67052	D	0.524	0.79825	0.861	0.95829	0.657455092868	0.65459	0.9463740494440179	0.94619	1.34284182334	0.83896	0.57057094574	0.48759	T	0.475107	0.80628	T	0.146421	0.68932	D	-0.0274529	0.68537	D	0.998368561267853	0.93945	D	0.965203	0.87125	D	0.98247874	0.99293	0.9633136	0.99146	0.98247874	0.99293	0.9633136	0.99146	-10.046	0.74187	D	.	.	0.825	0.78457	P	.	.	4.532926	0.71174	25.6	0.99272503131233092	0.57593	0.98827	0.87375	D	AEFDBI	0.941583	0.94503	D	0.733991702418545	0.81862	7.622285	0.622515413709132	0.76577	6.51699	0.999984184770097	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.74	4.84	0.62125	8.151000	0.89575	7.544000	0.60141	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0699:0.0:0.9301:0.0	14.634	0.68280	863	0.32847	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	34	chr10	100075969	.	G	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=743;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.463;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1438	18	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A,CHUK:NM_001320928:exon5:c.T464C:p.V155A	Cocoon syndrome	9	1467	42	4	0	50	0.016756	.	.	.	1278497	not_provided|CHUK-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.005435	0.002924	0.000000	0.017241	0.015244	0.018939	0.02632	1167.33	35	chr10	100220598	.	A	G	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=725;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.908;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1260	18	0	1	0
chr10	100288427	100288427	C	T	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon16:c.G2246A:p.R749H,PKD2L1:NM_016112:exon16:c.G2387A:p.R796H	.	427	1048	45	2	0	49	0.0228438	.	.	.	723712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0008	0.00199681	0.0024	9.625e-05	0.0016	0.0002	0	0.0012	0.0044	0.0112	0.0021086	326	154602	rs142439136	0.0014	0.0014	0.0010	0.0019	0.0142	0.0014	0.0014	0.0121	0.0118	0.0001	0.0011	0.0017	2.519e-05	5.616e-05	0.0142	0.0006	0.0019	0.0127	0.0011	0.0011	0.0009	0.0012	0.0108	0.0009	0.0009	0.0084	0.0076	0.0002	0	0.0007	0.0012	0	0	0.0238	0.0011	0.0019	0.0108	0.551	0.06564	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.24	0.59583	T	-2.29	0.50992	N	0.014	0.00160	-1.0290	0.20778	T	0.075	0.30335	T	9	0.0033938587	0.00059	T	.	.	.	0.075	0.21907	.	.	0.256283259241	0.25257	0.23419068029819137	0.23334	0.0822587675246	0.09278	0.198136895895	0.00405	T	0.082556	0.36854	T	-0.572676	0.00213	T	-0.584998	0.14101	T	0.0107580637357385	0.00152	T	0.365463	0.08501	T	0.024329975	0.01253	0.04724396	0.06762	0.024329975	0.01253	0.04724396	0.06762	-4.527	0.31240	T	.	.	0.097	0.15609	B	.	.	-0.471885	0.01959	0.169	0.59807317873006993	0.06311	0.00450	0.02181	N	AEFBI	0.044907	0.07281	N	-1.63518622830802	0.01099	0.04770569	-1.72754793295962	0.01021	0.0457736	0.999999368689944	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.08	-6.61	0.01652	-3.743000	0.00424	-11.204000	0.00625	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.167:0.263:0.57	7.408	0.26174	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.000000	0.013587	0.011696	0.050000	0.008621	0.003049	0.011364	0.02632	1224.33	35	chr10	100288427	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.715;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.206;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1313	18	0	1	0
chr10	100291324	100291324	G	A	exonic	PKD2L1	.	stopgain	PKD2L1:NM_001253837:exon12:c.C1843T:p.R615X,PKD2L1:NM_016112:exon12:c.C1984T:p.R662X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.123e-05	9.61e-05	0	0	0	1.5e-05	0	0.0002	3.23e-05	5	154602	rs745318706	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0001	8.31e-06	6.7e-06	7.999e-05	6.237e-05	0	0	0	0	0	0	5.396e-06	1.656e-05	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.236019	0.15816	N	0.645425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.756	0.75466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402906	0.90080	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.025076	0.98357	39	0.99113778243590289	0.52802	0.88865	0.49003	D	AEFDBI	0.208550	0.33462	N	0.159621807804507	0.49267	3.129124	-0.0867749914154541	0.35936	2.085076	0.999993354342232	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.82	2.91	0.32903	2.002000	0.40454	0.556000	0.19466	-0.106000	0.15538	0.988000	0.36536	0.045000	0.21693	0.078000	0.17132	0.0723:0.0:0.4127:0.515	8.501	0.32317	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1333.33	33	chr10	100291324	.	G	A	1333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.565;DP=807;ExcessHet=0;FS=5.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.081;SOR=1.134	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1442	18	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E,PKD2L1:NM_016112:exon12:c.A1966G:p.K656E	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011122	0.005051	0.005435	0.002924	0.000000	0.017241	0.018519	0.018939	0.02632	1564.33	33	chr10	100291342	.	T	C	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.02;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1442	18	0	1	0
chr10	100506195	100506195	A	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon9:c.T889C:p.Y297H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.00852183821132	.	.	6.591e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs780579460	3.078e-05	3.078e-05	1.633e-05	4.538e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0003	0	0	0	0	0	0	1.799e-06	8.279e-05	0.0004	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.02	0.58613	D	1.0	0.90584	D	0.997	0.86255	D	0.000083	0.51296	D	0.175915	0.999941	0.58761	D	2.725	0.79712	M	1.61	0.28391	T	-4.58	0.78807	D	0.545	0.57177	0.036	0.82963	D	0.488	0.80525	T	10	0.48823717	0.60836	T	0.008522	0.22532	T	0.498	0.78226	0.417	0.45709	0.555788435936	0.55237	0.4205402635715404	0.41970	0.0655229834412	0.07310	0.660344421864	0.61458	T	0.043718	0.26591	T	0.0140133	0.53571	T	0.118612	0.78144	D	0.923020303249359	0.58344	D	0.908809	0.67676	D	0.60994554	0.73225	0.6045611	0.77015	0.60994554	0.73226	0.6045611	0.77016	-9.159	0.68714	D	.	.	0.293	0.52434	B	.	.	4.330238	0.66345	25.0	0.99845770237191855	0.92576	0.99133	0.91711	D	AEFBI	0.867536	0.78735	D	0.753164342092488	0.83112	7.932422	0.72963155705285	0.84626	8.345362	0.999999999998755	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	7.412000	0.79304	9.215000	0.79261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	1.0:0.0:0.0:0.0	14.859	0.69997	750	0.51762	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2493.33	46	chr10	100506195	.	A	G	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=897;ExcessHet=0;FS=6.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.459;SOR=1.051	GT:AD:DP:GQ:PL	0/1:125,93:218:99:2507,0,3202	18	0	1	0
chr10	100924899	100924899	A	G	exonic	SLF2	.	nonsynonymous SNV	SLF2:NM_001136123:exon5:c.A1898G:p.N633S,SLF2:NM_018121:exon5:c.A1898G:p.N633S	.	430	1086	6	0	0	6	0.00275482	.	.	.	2809545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0018	0.00179712	0.0038	0.0010	0.0010	0	0.0239	0.0039	0.0023	0.0012	0.0035511	549	154602	rs35532139	0.0036	0.0036	0.0038	0.0035	0.0043	0.0035	0.0035	0.0031	0.0030	0.0008	0.0013	3.826e-05	0.0002	0.0262	0.0043	0.0032	0.0027	0.0014	0.0038	0.0038	0.0030	0.0047	0.0032	0.0036	0.0035	0.0028	0.0027	0.0009	0	0.0017	0.0003	0	0.0273	0	0.0032	0.0028	0.0017	0.525	0.07670	T	0.801	0.07394	T	0.002	0.09854	B	0.003	0.08700	B	0.148588	0.18044	N	0.557646	0.999744	0.20609	N	.	.	.	1.56	0.42122	T	0.21	0.12661	N	0.062	0.08088	-1.0084	0.27416	T	0.030	0.13111	T	10	0.0017694831	0.00023	T	.	.	.	0.041	0.10877	.	.	0.117506650769	0.11410	0.056614154866244285	0.05602	0.121406115065	0.13675	0.241442590952	0.02921	T	3.55E-4	0.15298	T	-0.691628	0.00041	T	-0.768042	0.02833	T	0.000417056771666452	0.00003	T	0.775622	0.40735	T	0.017849216	0.00309	0.03172006	0.01801	0.017849216	0.00309	0.03172006	0.01801	-2.203	0.04055	T	.	.	0.051	0.00291	B	.;.;.	.;.;.	-0.116492	0.03543	0.679	0.45700381093811404	0.03606	0.18317	0.20210	N	AEFBI	0.028359	0.02483	N	-1.30178892839788	0.03655	0.1636621	-1.16576623317231	0.06490	0.3125424	0.994048131618382	0.33464	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-2.37	0.06262	0.019000	0.13337	-0.286000	0.10231	-0.577000	0.04723	0.286000	0.25196	0.002000	0.18203	0.818000	0.38543	0.3087:0.0:0.6913:0.0	13.729	0.62258	661	0.61838	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.003788	0.02632	1101.33	37	chr10	100924899	.	A	G	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.839;DP=746;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.322;SOR=0.789	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1259	18	0	1	0
chr10	100980601	100980601	G	A	exonic	SEMA4G	.	nonsynonymous SNV	SEMA4G:NM_001203244:exon11:c.G1375A:p.V459I,SEMA4G:NM_017893:exon11:c.G1375A:p.V459I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0226823195711	7.7e-05	0.000399361	0.0004	0.0002	8.637e-05	0	0	4.497e-05	0	0.0027	0.0003687	57	154602	rs144844358	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0032	0.0030	5.974e-05	0.0002	0	0	0	0.0012	6.835e-05	0.0002	0.0035	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	9.694e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	8.82e-05	0	0.0023	0.194	0.31532	T	0.129	0.51112	T	1.0	0.90584	D	0.999	0.92359	D	0.368275	0.13567	N	0.674095	1	0.81001	D	1.455	0.36767	L	2.78	0.11298	T	-0.69	0.19720	N	0.24	0.27077	-1.1602	0.00752	T	0.062	0.25708	T	10	0.017738879	0.00381	T	0.022682	0.45590	T	0.189	0.46613	.	.	0.44143026662	0.43763	0.26811607814268845	0.26724	0.20304463845	0.22720	0.563488304615	0.47760	T	0.096573	0.39852	T	-0.505822	0.00530	T	-0.503346	0.22000	T	0.0812110991605574	0.10142	T	0.728627	0.34357	T	0.07324945	0.16354	0.1059631	0.25483	0.07324945	0.16353	0.1059631	0.25483	-3.386	0.14869	T	.	.	0.117	0.24733	B	.;.;.;.	.;.;.;.	4.137402	0.61958	24.4	0.99786307526168994	0.87219	0.96878	0.71431	D	AEFBCI	0.843133	0.76019	D	0.401680620184757	0.61515	4.353656	0.382180820641627	0.60467	4.234537	0.999531558638399	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.02	4.11	0.47350	7.730000	0.83827	5.668000	0.49244	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0854:0.0:0.9146:0.0	12.010	0.52573	554	0.71839	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1510.33	34	chr10	100980601	.	G	A	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=784;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.46;SOR=0.842	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1467	18	0	1	0
chr10	101006630	101006630	G	C	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G812C:p.R271P,LZTS2:NM_001318099:exon5:c.G1472C:p.R491P,LZTS2:NM_001318100:exon5:c.G1472C:p.R491P,LZTS2:NM_032429:exon5:c.G1472C:p.R491P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0241636689935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.089	0.40426	T	0.637	0.40341	P	0.661	0.52837	P	0.002872	0.35804	N	0.279986	0.995959	0.42940	D	2.28	0.64929	M	0.86	0.46777	T	-3.15	0.64132	D	0.522	0.55540	-0.8016	0.55050	T	0.181	0.52752	T	10	0.49352574	0.61132	T	0.024164	0.47155	T	0.219	0.51417	0.515	0.61459	0.541252434104	0.53778	0.6785592402222832	0.67794	0.630294044216	0.57025	0.768734931946	0.77236	T	0.253592	0.62413	T	0.0336755	0.56213	T	-0.189404	0.55647	T	0.971785962581635	0.69448	D	0.747925	0.36851	T	0.7248602	0.79433	0.5520138	0.74095	0.7248602	0.79435	0.5520138	0.74095	-9.023	0.67845	D	.	.	0.451	0.63324	A	.;.	.;.	4.836379	0.78912	27.0	0.9919358222753053	0.55053	0.68527	0.33836	D	AEFBCIJ	0.656017	0.62815	D	0.167136313076938	0.49627	3.16092	0.164001474008249	0.47887	3.012413	0.999998381761563	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	4.76	0.60189	1.799000	0.38459	7.570000	0.60688	0.590000	0.31872	0.625000	0.27956	1.000000	0.68203	0.812000	0.38265	0.1531:0.1641:0.6828:0.0	6.124	0.19387	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	489.33	33	chr10	101006630	.	G	C	489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr10	101006660	101006660	C	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.C842A:p.A281D,LZTS2:NM_001318099:exon5:c.C1502A:p.A501D,LZTS2:NM_001318100:exon5:c.C1502A:p.A501D,LZTS2:NM_032429:exon5:c.C1502A:p.A501D	.	0	225	1	0	0	1	0.00221729	.	.	.	2677374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0159585853253	.	.	0.0002	0.0004	0	0	0	0.0002	0	0.0004	0.0001164	18	154602	rs370440218	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.468e-05	0	0	0.0001	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.055e-05	0.0002	6.506e-05	5.318e-05	9.046e-05	7.011e-05	7.216e-05	0	6.536e-05	0	0	0	0	0.0002	0	0.0002	0.028	0.46129	D	0.008	0.67890	D	0.389	0.34565	B	0.369	0.43514	B	0.000146	0.49130	D	0.181438	0.997475	0.43918	D	1.32	0.33002	L	0.84	0.47477	T	-1.87	0.43717	N	0.321	0.36359	-0.8940	0.48577	T	0.147	0.47183	T	10	0.1239557	0.23537	T	0.015959	0.36975	T	0.125	0.34456	.	.	0.143184338766	0.13958	0.24591759748990397	0.24505	0.419131271529	0.42472	0.765441119671	0.76741	T	0.087249	0.37901	T	-0.307904	0.07934	T	-0.375512	0.36247	T	0.625364780426025	0.37427	D	0.877512	0.59164	D	0.39158604	0.60144	0.40491134	0.64905	0.39158604	0.60145	0.40491134	0.64905	-5.11	0.38012	T	.	.	0.176	0.38462	B	.;.	.;.	3.734753	0.53444	23.4	0.99506506183463328	0.68381	0.84130	0.43214	D	AEFDBCI	0.442613	0.50027	N	-0.128383764911273	0.36160	2.086396	-0.0936166219637781	0.35653	2.06528	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	3.020000	0.49326	7.671000	0.64778	0.524000	0.24156	0.034000	0.20669	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	18.554	0.91028	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001019	0.000000	0.001366	0.002959	0.000000	0.000000	0.000000	0.003817	0.02632	397.33	33	chr10	101006660	.	C	A	397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.168;DP=693;ExcessHet=0;FS=7.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.637;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1100:.	18	0	1	0
chr10	101010553	101010570	CGGCTACGGCTGCGGCTA	-	exonic	PDZD7	.	nonframeshift deletion	PDZD7:NM_001195263:exon15:c.2319_2336del:p.R779_S784del	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	5	1466	49	2	0	53	0.0177554	.	.	.	53293	PDZD7-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0019	0.0115	0	0	0.0097	0	0.0040	0.0003458	9	26028	rs397516634	0.0103	0.0098	0.0105	0.0101	0.0229	0.0102	0.0101	0.0197	0.0184	0.0017	0.0045	0.0057	0.0002	0.0015	0.0229	0.0119	0.0094	0.0039	0.0067	0.0067	0.0070	0.0064	0.0110	0.0064	0.0062	0.0104	0.0101	0.0020	0.0022	0.0081	0.0023	0.0012	0.0008	0.0238	0.0110	0.0086	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3028.79	66	chr10	101010552	.	GCGGCTACGGCTGCGGCTA	G	3028.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.15;DP=1608;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=1.45;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:99:.:.:0,120,1800:.	17	0	2	0
chr10	101010558	101010558	-	CGGCTG	exonic	PDZD7	.	nonframeshift insertion	PDZD7:NM_001195263:exon15:c.2330_2331insCAGCCG:p.S784_S785insRS	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1461	48	2	4	56	0.0174849	.	.	.	934914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491136099	6.957e-05	6.873e-05	6.044e-05	7.898e-05	0.0007	5.79e-05	5.37e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	5.998e-05	0.0002	3.754e-05	0.0001	6.459e-05	0.0004	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0005	0.0005	0.0007	0	9.968e-05	0	0.0002	0.0003	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1885.48	66	chr10	101010558	.	A	ACGGCTG	1885.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.261;DP=1633;ExcessHet=0.3672;FS=0.921;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.049;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:99:.:.:0,120,1800:.	18	0	1	0
chr10	101010558	101010558	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1461	48	2	4	56	0.0174849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1885.48	66	chr10	101010558	.	A	*	1885.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.261;DP=1633;ExcessHet=0.3672;FS=0.921;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.049;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:99:.:.:0,120,1800:.	17	0	2	0
chr10	101010570	101010570	A	0	exonic	PDZD7	.	.	.	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	64	116	447	888	7	2230	0.905499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	36003.9	65	chr10	101010570	.	A	*	36003.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=1710;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0.358;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:108:99:.:.:1247,1414,2976:.	17	0	2	0
chr10	101010745	101010745	G	A	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.C2144T:p.P715L	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1486	28	1	0	30	0.00999334	.	.	.	53291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	.	0.00599042	0.0066	0	0	0	0.0417	0.0154	0	0.0037	0.0015653	242	154602	rs143414291	0.0110	0.0091	0.0111	0.0108	0.0118	0.0108	0.0107	0.0116	0.0115	0.0017	0.0077	0.0189	4.882e-05	0.0222	0.0113	0.0118	0.0119	0.0030	0.0080	0.0079	0.0080	0.0080	0.0123	0.0076	0.0075	0.0108	0.0102	0.0019	0.0045	0.0123	0.0159	0	0.0118	0.0140	0.0106	0.0122	0.0030	.	.	.	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.17416	-0.9897	0.32677	T	0.069	0.28313	T	6	0.0062847733	0.00142	T	.	.	.	.	.	.	.	0.0934897674506	0.08844	0.3720811362910192	0.37122	.	.	0.472100496292	0.34969	T	.	.	.	-0.419907	0.01713	T	-0.366549	0.37293	T	0.0941627246702019	0.11702	T	0.625537	0.24174	T	0.06568587	0.14063	0.14167877	0.33731	0.07169355	0.15892	0.10242245	0.24546	-3.593	0.17756	T	0.1195348660652068	0.11147	0.083	0.09191	B	.;.	.;.	2.432426	0.31291	18.70	0.78602098339087845	0.12372	0.96490	0.69398	D	AEFBI	.	.	.	-0.0422751212939149	0.39948	2.364178	0.0306864226265816	0.41148	2.467257	0.999955382592637	0.48110	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.062806	0.01542	0	0.831938	0.49952	5.3	3.45	0.38602	3.247000	0.51123	3.352000	0.37793	-0.217000	0.08171	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.1604:0.0:0.8396:0.0	10.396	0.43385	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014340	0.021739	0.021552	0.015306	0.000000	0.000000	0.009524	0.000000	0.02778	1329.71	36	chr10	101010745	.	G	A	1329.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.671;DP=872;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.962;SOR=0.657	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1470	17	0	1	1
chr10	101019067	101019067	C	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon8:c.G1079A:p.G360D,PDZD7:NM_001351044:exon8:c.G1079A:p.G360D,PDZD7:NM_024895:exon8:c.G1079A:p.G360D	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	2	1507	13	0	0	13	0.00429468	.	.	.	265991	Inborn_genetic_diseases|Retinal_dystrophy|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00899217750928	.	.	0.0006	0	0.0007	0	0	0.0008	0.0048	0.0006	0.0001617	25	154602	rs571399433	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	3.028e-05	0.0004	0.0002	0	0	0.0010	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.404e-05	0	0.0007	0	0	0	0.0034	0.0004	0.0009	0.0004	0.228	0.18434	T	0.443	0.13215	T	0.005	0.12996	B	0.005	0.11217	B	0.105703	0.19646	N	0.492803	0.98498	0.24753	N	1.65	0.42232	L	2.98	0.09356	T	-0.14	0.09135	N	0.154	0.15888	-1.0280	0.21103	T	0.024	0.10284	T	10	0.058898628	0.06997	T	0.008992	0.23678	T	0.072	0.21020	0.257	0.19845	0.333326979144	0.32939	0.5014088594518032	0.50062	0.317216226453	0.33969	0.553047776222	0.46287	T	0.010354	0.09360	T	-0.38964	0.02705	T	-0.481311	0.24308	T	0.0284566191763888	0.01754	T	0.544846	0.18617	T	0.11914854	0.28059	0.17557009	0.40031	0.11914854	0.28059	0.17557009	0.40030	-4.626	0.32497	T	0.12456165840409393	0.12241	0.126	0.26794	B	.;.;.;.;.	.;.;.;.;.	1.784756	0.22693	15.72	0.97880526726528005	0.36601	0.40111	0.26364	N	ALL	0.306331	0.41351	N	-0.335476551159293	0.27809	1.52878	-0.270041959792153	0.29090	1.627078	1.0	0.98316	0.520426	0.21595	0	0.616487	0.53143	0	0.606814	0.37721	0	0.825845	0.99933	0	.	.	5.21	4.25	0.49658	2.330000	0.43544	1.581000	0.27475	0.524000	0.24156	0.049000	0.21372	0.002000	0.18203	0.605000	0.31514	0.0:0.8588:0.1412:0.0	15.205	0.72860	559	0.71409	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003597	0.000000	0.001359	0.000000	0.000000	0.000000	0.009494	0.003788	0.02632	1011.33	33	chr10	101019067	.	C	T	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.42;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr10	101022356	101022356	A	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon5:c.T572A:p.V191E,PDZD7:NM_001351044:exon5:c.T572A:p.V191E,PDZD7:NM_024895:exon5:c.T572A:p.V191E	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	.	194883	not_specified|not_provided|PDZD7-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.293	0.0355814120254	0.0066	0.00119808	0.0037	0.0013	0.0004	0	0.0012	0.0061	0.0022	0.0003	0.0041849	647	154602	rs118098246	0.0069	0.0069	0.0072	0.0066	0.0087	0.0068	0.0067	0.0085	0.0085	0.0012	0.0010	7.652e-05	2.519e-05	0.0012	0.0002	0.0087	0.0043	0.0002	0.0042	0.0042	0.0046	0.0039	0.0080	0.0040	0.0039	0.0074	0.0072	0.0014	0	0.0020	0	0	0.0004	0	0.0080	0.0043	0	0.004	0.65419	D	0.0	0.92824	D	0.95	0.53885	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	1.61	0.28391	T	-3.44	0.67477	D	0.628	0.65587	-1.0825	0.06871	T	0.050	0.21143	T	10	0.00952667	0.00215	T	0.035581	0.56436	D	0.293	0.61272	.	.	0.376790727695	0.37294	0.7444198046975368	0.74387	0.94884049527	0.72533	0.583483934402	0.50576	T	0.076859	0.35518	T	-0.261919	0.12677	T	-0.135379	0.60516	T	0.0279923960886035	0.01687	T	0.787321	0.42620	T	0.5460197	0.69734	0.5102061	0.71695	0.54917485	0.69911	0.52826184	0.72744	-9.916	0.85840	D	0.3981862166317721	0.49040	0.509	0.65546	A	.;.;.;.;.	.;.;.;.;.	4.548470	0.71561	25.7	0.98297832317804834	0.40011	0.98402	0.82409	D	AEFI	0.891911	0.82833	D	0.342182320750365	0.58328	4.004383	0.360358504533959	0.59136	4.088796	0.999997476426199	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	6.080000	0.70936	10.995000	0.84717	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	1.0:0.0:0.0:0.0	15.218	0.72979	619	0.66147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	829.33	33	chr10	101022356	.	A	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=719;ExcessHet=0;FS=5.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.169;SOR=1.374	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	101131912	101131912	G	C	exonic	TLX1	.	nonsynonymous SNV	TLX1:NM_001195517:exon1:c.G371C:p.G124A,TLX1:NM_005521:exon1:c.G371C:p.G124A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.846172674262	.	.	0.0004	0	0	0	0	0	0	0.0007	6.5e-06	1	154602	rs773316235	2.404e-06	4.788e-06	1.569e-06	3.277e-06	3.594e-05	6.4e-07	1.8e-07	5.82e-06	2.18e-06	0	0	0	3.594e-05	0	0	0	0	3.508e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.619	0.11115	T	0.231	0.30614	B	0.039	0.23607	B	0.034670	0.24740	N	0.403224	1	0.08975	N	0.345	0.11182	N	-2.79	0.92307	D	-0.1	0.11913	N	0.207	0.22998	-0.6029	0.64697	T	0.443	0.78051	T	10	0.22813687	0.39711	T	0.846173	0.98813	D	0.215	0.50805	0.332	0.31843	0.771538927918	0.76944	0.40737772980806236	0.40653	.	.	0.906008958817	0.97079	D	0.244527	0.61366	T	-0.140488	0.29812	T	-0.17515	0.56971	T	0.0603314736811094	0.07221	T	0.430857	0.11861	T	0.05238856	0.09765	0.08561906	0.19782	0.05238856	0.09764	0.08561906	0.19782	-3.965	0.23278	T	.	.	0.088	0.18164	B	.;.;.	.;.;.	0.680977	0.10493	7.210	0.70807408744618017	0.09417	0.43104	0.27024	N	AEFDBHCI	0.050754	0.08902	N	-0.660259980211579	0.17162	0.8807751	-0.573069263861301	0.20196	1.087025	0.999265433517958	0.38940	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.22	4.22	0.49153	1.955000	0.39997	0.710000	0.20927	0.562000	0.28470	0.949000	0.33028	0.477000	0.25082	0.081000	0.17303	0.1028:0.0:0.8972:0.0	9.284	0.36910	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1061.33	36	chr10	101131912	.	G	C	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=728;ExcessHet=0;FS=7.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.787;SOR=1.004	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1252	18	0	1	0
chr10	101817872	101817872	C	T	exonic	OGA	.	nonsynonymous SNV	OGA:NM_001142434:exon1:c.G151A:p.A51T,OGA:NM_012215:exon1:c.G151A:p.A51T	.	416	1075	28	3	0	34	0.0155678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0035	0.00199681	0.0108	0.0044	0.0179	0	0	0.0199	0.0127	0.0056	0.0035899	555	154602	rs35402016	0.0065	0.0064	0.0067	0.0063	0.0089	0.0064	0.0063	0.0069	0.0068	0.0012	0.0040	0.0200	2.769e-05	0.0003	0.0089	0.0070	0.0075	0.0041	0.0044	0.0044	0.0047	0.0042	0.0064	0.0042	0.0040	0.0059	0.0057	0.0012	0.0055	0.0063	0.0156	0	9.409e-05	0.0034	0.0064	0.0047	0.0048	0.559	0.09319	T	0.573	0.10245	T	0.0	0.07471	B	0.0	0.06944	B	0.515498	0.11799	N	0.766530	0.999804	0.20292	N	.	.	.	1.5	0.31470	T	-0.22	0.10480	N	0.283	0.33469	-1.0217	0.23162	T	0.044	0.18742	T	10	0.00470984	0.00099	T	.	.	.	0.065	0.18881	.	.	0.371018649785	0.36716	0.20201343265260446	0.20118	0.375560854822	0.39016	0.679509758949	0.64197	T	0.079695	0.36190	T	-0.53914	0.00339	T	-0.542086	0.18092	T	0.00208325122828598	0.00021	T	0.694731	0.31009	T	0.14554179	0.33358	0.08372848	0.19209	0.14554179	0.33358	0.08372848	0.19209	-5.905	0.46112	T	.	.	0.078	0.15743	B	.;.;.;.	.;.;.;.	0.957512	0.13337	9.842	0.98970685633468913	0.49520	0.02720	0.07381	N	AEFDBHCIJ	0.036472	0.04866	N	-1.00177379992207	0.08567	0.4021656	-0.963460306942825	0.10612	0.5355824	0.999999996654916	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.71	1.76	0.23776	-0.709000	0.05132	-0.578000	0.08391	0.524000	0.24156	0.005000	0.17040	0.000000	0.08366	0.133000	0.19684	0.0:0.5247:0.1481:0.3272	5.444	0.15819	499	0.76092	.;.;.;.	.	.	.	.	chr10:103577629	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010288	0.005495	0.011050	0.008876	0.050000	0.017241	0.012579	0.003906	0.05263	1523.83	35	chr10	101817872	.	C	T	1523.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.336;DP=777;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.066;SOR=0.644	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	17	0	2	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R	Hermansky-Pudlak syndrome 6	0	1445	75	2	0	79	0.0266083	.	.	.	207733	not_specified|Hermansky-Pudlak_syndrome_6|not_provided	MedGen:CN169374|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.010101	0.010870	0.023392	0.050000	0.017241	0.009146	0.003788	0.05263	2852.83	35	chr10	102066172	.	T	G	2852.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.991;DP=843;ExcessHet=0.119;FS=9.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.04;SOR=0.331	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1118	17	0	2	0
chr10	102139902	102139902	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.A1394G:p.K465R,PPRC1:NM_001288728:exon5:c.A1034G:p.K345R,PPRC1:NM_015062:exon5:c.A1394G:p.K465R	.	415	1104	3	0	0	3	0.00135685	.	.	.	2809565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0052	0.00279553	0.0063	0.0005	0.0023	0	0.0113	0.0095	0.0088	0.0012	0.0058149	899	154602	rs61756436	0.0053	0.0053	0.0052	0.0054	0.0052	0.0052	0.0052	0.0051	0.0050	0.0005	0.0029	0.0296	0	0.0106	0.0038	0.0052	0.0060	0.0014	0.0058	0.0058	0.0058	0.0059	0.0080	0.0055	0.0054	0.0075	0.0072	0.0005	0.0033	0.0052	0.0366	0	0.0095	0	0.0080	0.0028	0.0012	0.004	0.65419	D	0.51	0.11299	T	0.483	0.36807	P	0.122	0.32387	B	0.112743	0.19344	N	0.555807	0.524757	0.31926	D	1.935	0.51832	L	1.55	0.29866	T	-0.73	0.20791	N	0.266	0.32481	-0.9777	0.35526	T	0.046	0.19599	T	10	0.0038530827	0.00073	T	.	.	.	0.057	0.16321	.	.	0.228066490088	0.22430	0.14898548926819152	0.14820	0.418664140437	0.42450	0.354502290487	0.18583	T	0.025761	0.44249	T	-0.535209	0.00358	T	-0.530536	0.19234	T	0.0282199987662836	0.01721	T	0.765223	0.64303	T	0.047443926	0.08111	0.06065851	0.11588	0.047443926	0.08110	0.06065851	0.11587	-3.832	0.21283	T	.	.	0.102	0.18080	B	.;.	.;.	3.006349	0.40184	21.1	0.99839227255156981	0.91972	0.89366	0.49787	D	AEFBCI	0.144915	0.26799	N	0.107298536175235	0.46803	2.915139	0.257380969972674	0.53071	3.477898	0.998252898129082	0.36648	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	1.617000	0.36554	4.758000	0.44698	-0.050000	0.17177	0.986000	0.36153	1.000000	0.68203	0.587000	0.31065	1.0:0.0:0.0:0.0	13.944	0.63580	666	0.61362	.;.	.	.	.	.	rs61756436	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1283.33	35	chr10	102139902	.	A	G	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.211;DP=708;ExcessHet=0;FS=3.066;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=0.112;SOR=0.427	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1395	18	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A,PPRC1:NM_001288728:exon5:c.T2366C:p.V789A,PPRC1:NM_015062:exon5:c.T2726C:p.V909A	.	393	1072	56	1	0	58	0.0263397	.	.	.	3202232	PPRC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.024457	0.008772	0.050000	0.000000	0.021341	0.007576	0.02632	1870.33	35	chr10	102141234	.	T	C	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=866;ExcessHet=0;FS=1.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.444;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1395	18	0	1	0
chr10	102148479	102148479	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon8:c.C3716T:p.S1239L,PPRC1:NM_001288728:exon10:c.C4148T:p.S1383L,PPRC1:NM_015062:exon10:c.C4508T:p.S1503L	.	412	1109	1	0	0	1	0.000450653	.	.	.	2395334	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0509863360594	.	.	4.942e-05	0	0	0	0	1.498e-05	0	0.0003	3.88e-05	6	154602	rs758703390	2.259e-05	2.257e-05	1.499e-05	3.027e-05	0.0003	1.611e-05	1.417e-05	8.886e-05	7.054e-05	0	2.236e-05	0	2.519e-05	0	0.0003	9.001e-06	9.94e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.072	0.78490	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000112	0.50451	D	0.214001	0.999995	0.81001	D	2.36	0.67893	M	0.85	0.47130	T	-4.4	0.79743	D	0.503	0.63883	-0.7218	0.59374	T	0.206	0.56499	T	10	0.3714322	0.53505	T	0.050986	0.64471	D	0.269	0.58381	0.285	0.24280	0.243187853663	0.23924	0.6313578490613649	0.63069	0.154366644916	0.17432	0.698874294758	0.66981	T	0.150466	0.76171	T	-0.149642	0.28367	T	-0.250073	0.49810	T	0.917362034320831	0.57517	D	0.867113	0.85148	D	0.4164089	0.61852	0.38894483	0.63726	0.4164089	0.61853	0.38894483	0.63726	-11.373	0.81663	D	.	.	0.547	0.80106	A	.;.;.	.;.;.	3.731446	0.53380	23.4	0.99537934216942281	0.70336	0.96397	0.68938	D	AEFDGBCI	0.761848	0.69944	D	0.595060489939982	0.72865	5.873555	0.625008680048208	0.76760	6.550961	0.999999999999943	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.893000	0.69538	7.667000	0.64568	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.150000	0.20306	0.0:1.0:0.0:0.0	18.592	0.91174	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2435.33	40	chr10	102148479	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.444;DP=859;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=2.17;SOR=0.664	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr10	102451044	102451067	GGCGGCGGCCAGACGCCCTGTTTG	-	exonic	C10orf95	.	nonframeshift deletion	C10orf95:NM_001363580:exon2:c.27_50del:p.K10_P17del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265e-05	0	0	0	0	2.178e-05	0	0	3.84e-05	1	26028	rs769127436	2.155e-05	2.805e-05	2.252e-05	2.053e-05	0.0002	1.499e-05	1.274e-05	1.324e-05	1.076e-05	3.904e-05	0	0	0	3.048e-05	0.0002	2.027e-05	4.113e-05	2.474e-05	2.628e-05	2.627e-05	5.138e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1032.29	31	chr10	102451043	.	CGGCGGCGGCCAGACGCCCTGTTTG	C	1032.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=714;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=-0.435;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,973	18	0	1	0
chr10	102617378	102617378	G	A	exonic	SUFU	.	nonsynonymous SNV	SUFU:NM_001178133:exon10:c.G1246A:p.A416T,SUFU:NM_016169:exon10:c.G1246A:p.A416T	Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	524907	Medulloblastoma|Gorlin_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided	Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0338377845043	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs779490664	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.987e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.397	0.11227	T	0.586	0.09489	T	0.694	0.51194	P	0.119	0.33818	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.61	0.53516	T	-0.55	0.22508	N	0.847	0.84298	-1.0399	0.17343	T	0.079	0.31284	T	10	0.6550132	0.69822	D	0.033838	0.55262	D	0.189	0.46613	0.69	0.82748	0.29893580763	0.29502	0.736327118584829	0.73577	0.767229710591	0.64573	0.850808739662	0.89737	D	0.137215	0.47002	T	-0.0687216	0.41531	T	-0.167362	0.57684	T	0.708410680294037	0.41122	D	0.970203	0.89274	D	0.43293548	0.62944	0.2984655	0.55880	0.43293548	0.62945	0.2984655	0.55879	-3.462	0.16014	T	0.09791605247028497	0.06944	0.659	0.75899	P	.;.;.	.;.;.	4.307714	0.65821	24.9	0.99547233619076581	0.70898	0.98962	0.89228	D	AEFGBI	0.879013	0.80465	D	0.232771397953265	0.52792	3.451325	0.370612706438377	0.59758	4.156554	0.999999999999992	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	9.602000	0.97623	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.482	0.90764	706	0.57215	Suppressor of fused C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1718.33	33	chr10	102617378	.	G	A	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.009;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr10	102727043	102727043	T	C	exonic	SFXN2	.	nonsynonymous SNV	SFXN2:NM_178858:exon3:c.T218C:p.L73P,SFXN2:NM_001350989:exon4:c.T218C:p.L73P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0881726139036	.	0.000399361	9.069e-05	0	0	0.0013	0	0	0	0	8.41e-05	13	154602	rs200997238	9.54e-05	9.645e-05	9.681e-05	9.396e-05	0.0034	8.228e-05	7.742e-05	0.0029	0.0028	0	0	0	0.0034	0	0	9.024e-07	4.993e-05	0	7.882e-05	7.875e-05	0.0001	5.373e-05	0.0023	4.495e-05	3.511e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.575	0.93507	H	1.31	0.35405	T	-5.33	0.84601	D	0.985	0.99410	-0.3341	0.74014	T	0.290	0.66211	T	10	0.3907975	0.54876	T	0.088173	0.75081	D	0.683	0.88396	.	.	0.726949293181	0.72452	0.9708792472245789	0.97076	0.887879636192	0.70087	0.873781502247	0.93105	D	0.21088	0.57149	T	0.00417376	0.52228	T	0.176871	0.81815	D	0.717979192733765	0.41597	D	0.938406	0.77652	D	0.9800613	0.99114	0.9654967	0.99256	0.9800613	0.99114	0.9654967	0.99256	-14.723	0.95170	D	.	.	0.974	0.91951	P	.;.;.;.;.	.;.;.;.;.	5.282884	0.88704	29.7	0.99905143704506061	0.97576	0.97569	0.75610	D	AEFDBI	0.805522	0.73009	D	0.824989033861392	0.87641	9.28914	0.76106144260488	0.86981	9.06701	0.999999998728014	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.54	5.54	0.82907	6.235000	0.72283	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.671	0.77034	172	0.93355	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	734.33	34	chr10	102727043	.	T	C	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=670;ExcessHet=0;FS=3.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.821;SOR=1.009	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	18	0	1	0
chr10	102812787	102812787	C	T	exonic	WBP1L	.	nonsynonymous SNV	WBP1L:NM_001083913:exon4:c.C548T:p.S183F,WBP1L:NM_017787:exon4:c.C485T:p.S162F	.	426	1089	6	1	0	8	0.00365965	.	.	.	3348978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0226775363593	.	.	0.0001	0	0	0	0	3.056e-05	0	0.0008	9.7e-05	15	154602	rs762607950	6.663e-05	6.635e-05	4.647e-05	8.701e-05	0.0014	5.585e-05	5.174e-05	0.0007	0.0005	0	0	0	0	0	0.0014	1.442e-05	0.0001	0.0007	3.288e-05	3.283e-05	2.571e-05	4.039e-05	0.0008	1.262e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.471e-05	0	0.0008	0.004	0.65419	D	0.023	0.57104	D	0.967	0.56408	D	0.73	0.55268	P	0.079680	0.20970	N	0.573673	0.998383	0.44847	D	2.19	0.61577	M	1.74	0.26301	T	-2.2	0.49519	N	0.145	0.16028	-1.0933	0.05005	T	0.088	0.33968	T	10	0.055758536	0.06145	T	0.022678	0.45590	T	0.129	0.35316	0.158	0.06178	0.102598925029	0.09809	0.3219496408142394	0.32107	0.919069713651	0.71380	0.615348696709	0.55071	T	0.075336	0.35154	T	-0.417859	0.01766	T	-0.474968	0.24982	T	0.29658967256546	0.24862	T	0.881612	0.60121	D	0.069619305	0.15268	0.17050487	0.39165	0.069619305	0.15268	0.17050487	0.39164	-7.41	0.56975	T	.	.	0.168	0.36986	B	.;.	.;.	4.324945	0.66219	24.9	0.99869101913713221	0.94726	0.97205	0.73310	D	AEFDGBHCI	0.557233	0.56695	D	0.443673790642786	0.63845	4.626275	0.527947920285706	0.69878	5.423639	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.05	6.05	0.98156	2.843000	0.47939	4.022000	0.41260	0.594000	0.32500	0.992000	0.37556	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	20.606	0.99468	576	0.70006	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1242.33	34	chr10	102812787	.	C	T	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=727;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.246;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr10	102854366	102854366	C	T	exonic	BORCS7	.	nonsynonymous SNV	BORCS7:NM_001136200:exon1:c.C80T:p.T27I,BORCS7:NM_144591:exon1:c.C80T:p.T27I	.	437	1083	2	0	0	2	0.000922509	.	.	.	3643291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00363378386259	.	.	0.0001	0	0.0006	0	0	0.0002	0	0	7.76e-05	12	154602	rs767070482	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	9.872e-05	0.0026	0.0022	9.062e-05	0.0003	0	0	1.97e-05	0.0039	0.0001	0.0002	9.802e-05	9.865e-05	9.851e-05	0.0001	9.426e-05	0.0005	6.012e-05	4.884e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0032	7.349e-05	0.0010	0	0.079	0.33753	T	0.068	0.44106	T	.	.	.	.	.	.	0.028003	0.25668	U	0.356501	0.804944	0.34561	D	.	.	.	.	.	.	-0.44	0.14588	N	0.36	0.40565	-0.8704	0.50499	T	0.135	0.45010	T	9	0.13305357	0.25324	T	0.003634	0.08340	T	0.049	0.13647	.	.	0.458101713262	0.45433	0.26777269739834586	0.26690	0.184410465136	0.20741	.	.	.	.	.	.	-0.271831	0.11554	T	-0.320826	0.42484	T	0.108823487627587	0.13301	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34160	B	.;.	.;.	4.519629	0.70858	25.6	0.99453543894532748	0.65427	0.76932	0.37773	D	ALL	0.751429	0.69224	D	0.0511564538237271	0.44196	2.698053	0.254446356037167	0.52903	3.46208	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.92	5.92	0.95557	5.307000	0.65551	7.316000	0.58145	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.8062:0.1938:0.0	14.069	0.64373	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	802.33	34	chr10	102854366	.	C	T	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=696;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.249;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	18	0	1	0
chr10	103278251	103278251	A	G	exonic	INA	.	nonsynonymous SNV	INA:NM_032727:exon1:c.A1040G:p.H347R	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	.	0.0068	0.00559105	0.0118	0.0024	0.0062	0	0	0.0160	0.0092	0.0117	0.0052005	804	154602	rs78099843	0.0097	0.0096	0.0097	0.0097	0.0108	0.0095	0.0095	0.0107	0.0106	0.0014	0.0034	0.0172	5.333e-05	0.0014	0.0071	0.0108	0.0085	0.0085	0.0062	0.0061	0.0069	0.0054	0.0095	0.0058	0.0057	0.0089	0.0087	0.0024	0.0033	0.0036	0.0202	0	0.0009	0.0068	0.0095	0.0076	0.0071	0.043	0.41364	D	0.123	0.35582	T	0.974	0.57829	D	0.91	0.64641	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.315	0.66250	M	-4.29	0.97149	D	-4.04	0.74427	D	0.623	0.63798	0.777	0.94124	D	0.884	0.96152	D	10	0.010659248	0.00236	T	.	.	.	0.863	0.95839	.	.	0.999885372916	0.99988	0.9197221401851097	0.91948	2.05958384172	0.94402	0.755199432373	0.75216	T	0.857607	0.96813	D	0.0653725	0.60282	T	0.332803	0.89624	D	0.0208410290861529	0.00784	T	0.755224	0.37818	T	0.76489484	0.81743	0.67247915	0.80778	0.76489484	0.81744	0.67247915	0.80779	-7.824	0.59865	D	0.6158204980164066	0.68376	0.738	0.74545	P	.	.	4.779570	0.77456	26.7	0.99713738165993315	0.81493	0.41904	0.26760	N	AEFDBCI	0.747244	0.68936	D	0.530508259231354	0.68902	5.281694	0.51287704526531	0.68855	5.278072	0.999999999987222	0.74766	0.789315	0.99827	0	0.541168	0.11318	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	4.54	4.54	0.55220	6.297000	0.72735	10.837000	0.83894	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	14.005	0.63972	167	0.93508	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs78099843	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011190	0.000000	0.017760	0.011696	0.000000	0.017241	0.006250	0.007576	0.02632	786.33	35	chr10	103278251	.	A	G	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=749;ExcessHet=0;FS=2.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.58;SOR=1.127	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr10	103347250	103347250	C	G	exonic	PCGF6	.	nonsynonymous SNV	PCGF6:NM_001011663:exon5:c.G661C:p.V221L	.	.	.	.	.	.	.	.	.	.	.	2229435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00905385686985	.	.	3.309e-05	0	0	0	0	6.014e-05	0	0	2.59e-05	4	154602	rs748743394	2.682e-05	2.668e-05	2.602e-05	2.762e-05	3.256e-05	2.008e-05	1.763e-05	2.384e-05	2.116e-05	0	0	0	0	0	0	3.256e-05	4.985e-05	0	5.257e-05	5.91e-05	6.424e-05	4.036e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.192	0.20988	T	0.508	0.10893	T	0.702	0.41889	P	0.182	0.35926	B	0.000000	0.84330	D	0.000000	0.99996	0.81001	D	2.035	0.55589	M	1.42	0.33189	T	-0.96	0.25551	N	0.3	0.33904	-1.1000	0.04091	T	0.055	0.23262	T	10	0.14506888	0.27522	T	0.009054	0.23821	T	0.116	0.32463	0.189	0.09907	0.56524285216	0.56187	0.3618402101151388	0.36098	0.282977089888	0.30750	0.657128453255	0.60999	T	0.029053	0.20905	T	-0.167472	0.25619	T	-0.347887	0.39448	T	0.420103996992111	0.29694	T	0.667533	0.27667	T	0.24228393	0.47154	0.24066927	0.49446	0.24228393	0.47154	0.24066927	0.49445	-7.882	0.60263	D	.	.	0.782	0.76447	P	.	.	3.227414	0.44003	21.8	0.98578214976258938	0.43206	0.98310	0.81501	D	AEFBI	0.417714	0.48564	N	0.115081624794785	0.47166	2.94616	0.238619980083266	0.52005	3.378383	0.99293010694146	0.33023	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.221012	0.04332	2	.	.	5.4	5.4	0.77957	3.740000	0.54802	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9223:0.0:0.0777	13.144	0.58869	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	579.33	33	chr10	103347250	.	C	G	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-1.143;SOR=0.544	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,889	18	0	1	0
chr10	103368376	103368387	CTCCGGAGCCCC	-	exonic	TAF5	.	nonframeshift deletion	TAF5:NM_006951:exon1:c.387_398del:p.S130_P133del,TAF5:NM_139052:exon1:c.387_398del:p.S130_P133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	150.29	68	chr10	103368375	.	GCTCCGGAGCCCC	G	150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.385;DP=1190;ExcessHet=0;FS=47.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.34;ReadPosRankSum=-2.857;SOR=4.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	18	0	1	0
chr10	103368377	103368377	T	0	exonic	TAF5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	10751.5	36	chr10	103368377	.	T	*	10751.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.922;DP=1178;ExcessHet=1.8686;FS=75.023;InbreedingCoeff=-0.2518;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.156;SOR=0.014	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0:37:0:.:.:0,0,589:.	13	0	1	5
chr10	103368393	103368393	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.A404G:p.E135G,TAF5:NM_139052:exon1:c.A404G:p.E135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.153720025215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.83e-07	3.593e-05	1.553e-06	0	9.975e-07	0	0	.	.	0	0	0	0	0	0	9.975e-07	0	0	2.733e-05	0.0001	2.669e-05	2.799e-05	6.733e-05	8.39e-06	5.3e-06	.	.	0	0	6.733e-05	0	0	0.0002	0	0	0.0005	0	0.154	0.24277	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.132992	0.18567	N	0.537430	0.862857	0.28328	N	1.04	0.26193	L	0.6	0.53731	T	-0.79	0.21860	N	0.03	0.00717	-1.0488	0.14733	T	0.078	0.31103	T	10	0.09397647	0.16674	T	0.15372	0.83494	D	0.101	0.28911	0.075	0.00517	0.367638622828	0.36380	0.16757897474813674	0.16677	0.894647151709	0.70397	0.819475531578	0.84947	D	0.011152	0.09990	T	-0.144445	0.29184	T	-0.445262	0.28220	T	0.29301992058754	0.24716	T	0.480552	0.14510	T	0.15430008	0.34932	0.1793036	0.40655	0.15430008	0.34931	0.1793036	0.40655	-1.539	0.01846	T	.	.	0.060	0.00919	B	.	.	3.217617	0.43821	21.8	0.98831101200191784	0.46952	0.55304	0.29830	D	AEFDBHCIJ	0.052950	0.09498	N	-0.424724002173416	0.24605	1.329748	-0.258590702986731	0.29477	1.651733	0.999999622365115	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	3.27	0.36580	1.494000	0.35225	8.749000	0.78216	0.658000	0.54486	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.6492:0.181:0.1698:0.0	4.400	0.10810	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	162.11	55	chr10	103368393	.	A	G	162.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.199;DP=905;ExcessHet=0;FS=52.797;InbreedingCoeff=-0.0572;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.95;ReadPosRankSum=-2.545;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:1:.:.:0,1,1244:.	17	0	1	1
chr10	103368396	103368396	T	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.T407G:p.V136G,TAF5:NM_139052:exon1:c.T407G:p.V136G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0784865363874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.438e-06	7.61e-05	3.079e-06	7.841e-06	5.692e-05	2.26e-06	1.45e-06	9.43e-06	3.53e-06	0	5.692e-05	0	3.259e-05	0	0	3.945e-06	0	0	4.807e-05	0.0002	6.7e-05	2.817e-05	6.049e-05	2.195e-05	1.582e-05	2.011e-05	1.151e-05	2.502e-05	0	0	0	0	0.0002	0	6.049e-05	0	0	0.506	0.07594	T	0.391	0.15456	T	0.002	0.09854	B	0.003	0.08700	B	0.442574	0.12609	N	0.734402	0.866106	0.35476	D	-0.895	0.01383	N	0.73	0.50721	T	-0.15	0.09297	N	0.089	0.06720	-1.0591	0.11981	T	0.063	0.26279	T	10	0.052879363	0.05390	T	0.078487	0.73017	D	0.044	0.11924	0.113	0.02240	0.143184338766	0.13958	0.20401842641528983	0.20318	0.990479955859	0.74054	0.770609021187	0.77515	T	0.008563	0.07851	T	-0.170808	0.25112	T	-0.483131	0.24113	T	0.121761955320835	0.14601	T	0.279972	0.04873	T	0.042733803	0.06534	0.058080304	0.10671	0.042733803	0.06533	0.058080304	0.10670	-1.882	0.02765	T	.	.	0.051	0.00165	B	.	.	2.071018	0.26338	17.08	0.86345754343650649	0.16475	0.72394	0.35436	D	AEFDBHCIJ	0.187123	0.31442	N	-0.727865208978981	0.15241	0.7663986	-0.601647704353175	0.19451	1.043616	0.999998671693393	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	-1.59	0.08003	0.652000	0.24573	-0.184000	0.11104	0.580000	0.29708	0.976000	0.34826	0.582000	0.25626	0.975000	0.56047	0.1471:0.5411:0.0:0.3117	6.911	0.23515	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004592	0.010638	0.004144	0.000000	0.000000	0.000000	0.009202	0.003817	0.03846	120.07	55	chr10	103368396	.	T	G	120.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-3.425;DP=854;ExcessHet=0;FS=39.882;InbreedingCoeff=-0.1178;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=-3.049;SOR=3.893	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0:37:0:.:.:0,0,791:.	12	0	1	6
chr10	103425101	103425101	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon20:c.G2881A:p.D961N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00259585	0.0017	9.621e-05	0	0.0230	0	0	0.0033	6.057e-05	0.0015459	239	154602	rs117992169	0.0005	0.0005	0.0006	0.0005	0.0161	0.0005	0.0005	0.0151	0.0147	0	2.236e-05	0	0.0161	0	0	1.439e-05	0.0019	0.0001	0.0009	0.0009	0.0010	0.0008	0.0193	0.0008	0.0007	0.0162	0.0151	2.405e-05	0	0.0015	0	0.0193	0	0	5.881e-05	0.0043	0.0004	0.017	0.51248	D	0.118	0.36233	T	0.999	0.77913	D	0.83	0.59611	P	0.000065	0.52346	D	0.199557	0.99915	0.46198	D	2.005	0.54552	M	2.88	0.10291	T	-1.71	0.40660	N	0.454	0.49146	-1.2138	0.00073	T	0.052	0.22076	T	10	0.0067198873	0.00152	T	.	.	.	0.191	0.46948	.	.	0.489449420884	0.48578	0.45076246499644035	0.44994	0.748871437155	0.63661	0.53382563591	0.43573	T	0.010322	0.09328	T	-0.514958	0.00470	T	-0.490165	0.23374	T	0.071554896771615	0.08867	T	0.886311	0.61284	D	0.120755054	0.28409	0.11284652	0.27232	0.120755054	0.28408	0.11284652	0.27231	-8.251	0.62768	D	.	.	0.530	0.65911	A	.;.	.;.	4.664244	0.74481	26.2	0.99916222306633085	0.98449	0.97622	0.75966	D	AEFDGBI	0.564454	0.57124	D	0.72067300015092	0.80988	7.41793	0.730351037461669	0.84684	8.360873	0.999979880438267	0.50053	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.952000	0.70000	11.770000	0.95838	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.075	0.97739	217	0.91564	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3752.33	35	chr10	103425101	.	G	A	3752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.786;DP=949;ExcessHet=0;FS=1.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.083;SOR=0.6	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr10	103455551	103455551	A	C	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon2:c.T752G:p.F251C	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.156122160668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	1.361e-06	5.501e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.103850	1	0.81001	D	2.605	0.76211	M	0.4	0.57261	T	-7.11	0.93999	D	0.928	0.93252	-0.2197	0.77159	T	0.364	0.72498	T	10	0.9612361	0.95536	D	0.156122	0.83694	D	0.771	0.92294	0.831	0.94042	0.590108981234	0.58686	0.8926024701985863	0.89230	0.744400611753	0.63432	0.723270595074	0.70523	T	0.334831	0.70452	T	0.33078	0.85216	D	0.237366	0.85021	D	0.998069226741791	0.93135	D	0.871113	0.57669	D	0.8584835	0.87970	0.8401839	0.90850	0.8584835	0.87972	0.8401839	0.90851	-4.294	0.28093	T	0.8119718443339465	0.88673	0.986	0.92429	P	.	.	5.280188	0.88659	29.7	0.99330409814107656	0.59738	0.99021	0.90073	D	AEFDGBI	0.955194	0.97285	D	0.808313622497247	0.86624	8.945275	0.769185112509114	0.87581	9.272188	0.999999999991171	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	8.818000	0.91619	10.926000	0.84261	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.161	0.72466	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2688.33	42	chr10	103455551	.	A	C	2688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=897;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.26;SOR=0.737	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr10	103458592	103458592	C	T	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon1:c.G160A:p.A54T	.	.	.	.	.	.	.	.	.	.	.	3424423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00754379677224	0.0002	0.000399361	0.0002	9.748e-05	0.0002	0.0002	0	0.0003	0	0	0.0001552	24	154602	rs140666030	9.442e-05	9.44e-05	0.0001	8.802e-05	0.0002	8.136e-05	7.652e-05	6.784e-05	6.283e-05	2.987e-05	0.0001	0.0008	5.038e-05	0	0.0002	8.183e-05	0.0002	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.231e-05	0.0001	9.898e-05	0	0	0.0002	0.0012	0.0002	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.05	0.48080	T	0.489	0.36925	P	0.033	0.22329	B	0.025103	0.26146	N	0.452396	1	0.08975	N	0.69	0.16971	N	2.3	0.16953	T	-0.2	0.10136	N	0.102	0.08506	-1.0096	0.27043	T	0.014	0.05753	T	10	0.015043795	0.00316	T	0.007544	0.20006	T	0.028	0.06331	.	.	0.0401082797425	0.02173	0.5772696737336218	0.57655	0.162474102853	0.18328	0.354660302401	0.18606	T	0.019118	0.15291	T	-0.445364	0.01203	T	-0.613082	0.11735	T	0.0203414536268486	0.00734	T	0.680832	0.28956	T	0.046775248	0.07884	0.07383741	0.16088	0.046775248	0.07884	0.07383741	0.16088	-3.774	0.20417	T	0.125773117771601	0.12574	0.101	0.17402	B	.	.	1.755477	0.22329	15.58	0.97003330117518338	0.31953	0.16047	0.19206	N	AEFDBCI	0.083459	0.16908	N	-0.812883290798814	0.12981	0.6363617	-0.816156378132755	0.14104	0.7352377	0.999503334169801	0.40062	0.615755	0.39536	0	0.588066	0.40923	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.56	2.71	0.31092	1.500000	0.35290	0.386000	0.17834	-0.266000	0.06809	0.458000	0.26628	0.000000	0.08366	0.009000	0.08673	0.0:0.4786:0.2913:0.2301	5.534	0.16292	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1016.33	34	chr10	103458592	.	C	T	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=1715;ExcessHet=0;FS=13.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.947;SOR=1.17	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	18	0	1	0
chr10	103570968	103570968	C	T	exonic	NEURL1	.	nonsynonymous SNV	NEURL1:NM_004210:exon2:c.C182T:p.T61M	.	381	1126	15	0	0	15	0.00661667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00720906252433	.	0.000199681	0.0004	0	0.0002	0	0	0.0002	0	0.0022	0.0003816	59	154602	rs200414040	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	3.826e-05	0	0.0002	0.0026	9.622e-05	0.0004	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.695e-05	0.0014	0.0011	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0025	0.037	0.43085	D	0.065	0.52060	T	0.971	0.57185	D	0.302	0.41118	B	0.000064	0.52346	D	0.165528	0.999986	0.18198	N	1.445	0.36358	L	.	.	.	-1.28	0.34596	N	0.348	0.38950	-1.0457	0.15621	T	0.065	0.26983	T	9	0.019372523	0.00432	T	0.007209	0.19116	T	0.083	0.24192	.	.	0.262679179196	0.25893	0.18010148591389805	0.17929	1.04843531002	0.76047	0.504908204079	0.39512	T	0.052901	0.29294	T	-0.431787	0.01446	T	-0.398867	0.33515	T	0.0314689681577452	0.02221	T	0.951205	0.81406	D	0.07228108	0.16068	0.1244334	0.29992	0.07228108	0.16067	0.1244334	0.29992	-5.103	0.37939	T	.	.	0.076	0.08417	B	.;.	.;.	2.721290	0.35591	19.94	0.99664954574020737	0.78202	0.29606	0.23866	N	AEFDBI	0.355816	0.44741	N	-0.252262292040224	0.31014	1.73485	-0.339918181000423	0.26823	1.484103	0.950456832868798	0.27896	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.7	3.79	0.42757	0.963000	0.28890	1.688000	0.28053	0.524000	0.24156	0.675000	0.28393	0.953000	0.29079	0.058000	0.15825	0.1274:0.6607:0.2119:0.0	11.118	0.47495	83	0.96533	Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1069.33	34	chr10	103570968	.	C	T	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=725;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.503;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	18	0	1	0
chr10	103612939	103612939	G	A	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon6:c.C815T:p.A272V,SH3PXD2A:NM_014631:exon11:c.C1088T:p.A363V	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0006	0.0323482	0.0142	0.0004	0.0254	0.1315	0.0203	0.0010	0.0135	0.0038	0.0130399	2016	154602	rs117568095	0.0052	0.0052	0.0053	0.0050	0.1092	0.0051	0.0050	0.1065	0.1054	0.0002	0.0204	0.0033	0.1092	0.0205	0	0.0002	0.0085	0.0040	0.0080	0.0080	0.0065	0.0096	0.1374	0.0076	0.0075	0.1290	0.1257	0.0004	0	0.0100	0.0032	0.1374	0.0211	0	0.0007	0.0076	0.0079	0.145	0.25154	T	0.506	0.10967	T	0.148	0.27908	B	0.046	0.27651	B	0.000758	0.42006	D	0.268690	0.00232745	0.45921	P	0.69	0.16971	N	0.5	0.55945	T	-1.13	0.29114	N	0.167	0.24883	-1.0875	0.05960	T	0.001	0.00255	T	9	0.0017579496	0.00023	T	.	.	.	0.049	0.13647	.	.	.	.	0.5983881472375869	0.59769	0.409143301582	0.41730	0.383184075356	0.22708	T	0.016468	0.13610	T	-0.510266	0.00500	T	-0.363461	0.37653	T	0.0102187556534429	0.00139	T	0.871813	0.57812	D	0.09019947	0.21098	0.10891802	0.26244	0.09019947	0.21098	0.10891802	0.26243	-3.858	0.22632	T	.	.	0.077	0.11606	B	.;.	.;.	2.243559	0.28652	17.87	0.77260008433848371	0.11802	0.94724	0.62112	D	AEFBCI	0.631508	0.61246	D	-0.198416931193109	0.33200	1.880892	-0.0656206937365083	0.36822	2.147842	0.999999999991165	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.67	5.67	0.87673	4.890000	0.62869	8.636000	0.77873	0.590000	0.31872	0.991000	0.37257	1.000000	0.68203	0.025000	0.12405	0.0721:0.0:0.9279:0.0	13.977	0.63793	86	0.96395	.;.	.	.	.	.	rs117568095	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1238.33	34	chr10	103612939	.	G	A	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=718;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.355;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	103622514	103622514	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon4:c.G401A:p.R134H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.123123595871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472972520	8.584e-06	8.893e-06	9.881e-06	7.251e-06	5.604e-05	4.58e-06	3.62e-06	9.28e-06	3.47e-06	3.165e-05	5.604e-05	0	2.798e-05	0	0	5.561e-06	1.725e-05	1.262e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	9.416e-05	0	0	0	0.0002	0.004	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.993	0.81110	D	0.000035	0.55875	D	0.123911	0.999999	0.81001	D	0.895	0.22405	L	0.42	0.56937	T	-1.1	0.28497	N	0.363	0.40465	-0.1645	0.78561	T	0.389	0.74342	T	9	0.34697664	0.51641	T	0.123124	0.80423	D	0.203	0.48915	0.41	0.44559	0.744815322239	0.74252	.	.	.	.	.	.	.	0.01794	0.14550	T	-0.135373	0.30630	T	-0.22768	0.51997	T	0.531556904315948	0.33791	D	0.975602	0.91418	D	0.19237429	0.40904	0.12763037	0.30720	0.19237429	0.40904	0.12763037	0.30719	-7.357	0.56600	T	.	.	0.907	0.83231	P	.	.	5.515701	0.91729	32	0.99952920810315593	0.99957	0.91224	0.53104	D	AEFDGBCI	0.919140	0.88922	D	0.568483370912341	0.71215	5.617018	0.535795663478208	0.70414	5.501922	0.999999978342411	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.72	3.8	0.42887	7.722000	0.83741	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8442:0.1558:0.0	13.755	0.62420	88	0.96322	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1151.33	33	chr10	103622514	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.512;DP=713;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.015;SOR=0.372	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	18	0	1	0
chr10	103627176	103627176	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon3:c.G274A:p.E92K,SH3PXD2A:NM_014631:exon9:c.G631A:p.E211K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0378397767145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179938628	2.055e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23095	T	0.008	0.67890	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.705	0.18577	N	0.93	0.44065	T	-3.05	0.62976	D	0.814	0.80964	-0.8866	0.49223	T	0.187	0.53722	T	10	0.79042137	0.78611	D	0.03784	0.57860	D	0.342	0.66392	0.53	0.63707	0.57334081109	0.57001	0.6557515014627731	0.65511	1.14165798427	0.78952	0.801444590092	0.82183	T	0.044918	0.26964	T	-0.00795836	0.50551	T	-0.152354	0.59034	T	0.968521773815155	0.68273	D	0.932307	0.95630	D	0.5001987	0.67106	0.40109682	0.64628	0.5001987	0.67107	0.40109682	0.64628	-6.631	0.56117	T	.	.	0.641	0.70552	P	.;.	.;.	5.123554	0.85707	28.7	0.9994017620265192	0.99767	0.91845	0.54387	D	AEFBHCI	0.788340	0.71786	D	0.295981180293545	0.55944	3.758595	0.412248235433343	0.62325	4.446285	0.999999999999969	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	6.124000	0.71349	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.793	0.88471	89	0.96298	SH3 domain|SH3 domain|SH3 domain|SH3PXD2A, SH3 domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	952.33	33	chr10	103627176	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=731;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.178;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr10	103889105	103889105	G	A	exonic	STN1	.	nonsynonymous SNV	STN1:NM_024928:exon9:c.C916T:p.R306W	Cerebroretinal microangiopathy with calcifications and cysts 2, Autosomal recessive	428	1091	3	0	0	3	0.001373	.	.	.	1356089	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0195685306628	.	.	4.12e-05	0	0	0	0	4.498e-05	0	0.0001	5.17e-05	8	154602	rs753557631	3.695e-05	3.899e-05	3.541e-05	3.852e-05	0.0007	2.895e-05	2.593e-05	0.0002	0.0001	5.976e-05	0	0	0	0	0.0007	2.699e-05	4.969e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.009	0.66756	D	0.993	0.65571	D	0.663	0.52893	P	0.810209	0.06822	N	1.088330	1	0.08975	N	2.015	0.55033	M	0.89	0.45636	T	-1.44	0.35399	N	0.275	0.31140	-1.0040	0.28755	T	0.118	0.41495	T	10	0.19341093	0.35109	T	0.019569	0.41966	T	0.093	0.26882	0.459	0.52590	0.263140351381	0.25927	0.32311268730087256	0.32224	0.147590502323	0.16655	0.184596076608	0.00144	T	0.023819	0.18113	T	-0.349839	0.04737	T	-0.465996	0.25950	T	0.212365135550499	0.21076	T	0.837516	0.51030	T	0.095680796	0.22522	0.04831346	0.07148	0.095680796	0.22522	0.04831346	0.07147	-4.161	0.26185	T	0.6382526827481815	0.70859	0.100	0.17615	B	.;.	.;.	3.187253	0.43288	21.7	0.99572572862046138	0.72501	0.11638	0.16765	N	AEFBHCI	0.205877	0.33219	N	-0.4367856462453	0.24191	1.304425	-0.59337799902437	0.19665	1.056091	0.999999999370798	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.25	2.06	0.25932	0.999000	0.29358	2.286000	0.31928	-0.148000	0.12190	0.059000	0.21734	0.940000	0.28757	0.516000	0.29383	0.0976:0.1331:0.4614:0.3079	2.709	0.04849	114	0.95383	Stn1, C-terminal;Stn1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	37	chr10	103889105	.	G	A	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.008;DP=689;ExcessHet=0;FS=3.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.179;SOR=1.043	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1185	18	0	1	0
chr10	104002896	104002896	A	G	exonic	SLK	.	nonsynonymous SNV	SLK:NM_001304743:exon9:c.A1718G:p.D573G,SLK:NM_014720:exon9:c.A1718G:p.D573G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0150998391629	0.0005	.	0.0006	0	8.652e-05	0	0	0.0009	0	0.0005	0.0004851	75	154602	rs138561931	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0003	0.0016	0.0013	2.987e-05	8.945e-05	0.0105	0	0	0.0026	0.0001	0.0010	0.0006	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0001	0.0001	2.412e-05	0	0.0003	0.0081	0	0	0	0.0002	0.0010	0.0002	0.145	0.25154	T	0.434	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.457066	0.12436	N	0.783353	1	0.08975	N	0.55	0.14455	N	-0.45	0.69896	T	-0.17	0.09627	N	0.105	0.08925	-1.0181	0.24334	T	0.134	0.44739	T	10	0.003817588	0.00072	T	0.015	0.35634	T	0.072	0.21020	.	.	0.554558929491	0.55114	0.07498774446787938	0.07434	0.0526948635946	0.05807	0.243887513876	0.03151	T	0.006478	0.05912	T	-0.395844	0.02465	T	-0.478418	0.24613	T	0.00521661993563268	0.00056	T	0.659934	0.27348	T	0.07002385	0.15388	0.07592888	0.16767	0.07002385	0.15388	0.07592888	0.16766	-3.993	0.23699	T	.	.	0.080	0.07889	B	.;.	.;.	1.783382	0.22673	15.72	0.90110825285220153	0.19393	0.11505	0.16678	N	AEFBI	0.121648	0.23641	N	-0.901252689901276	0.10813	0.5185893	-0.85150158646679	0.13251	0.6864068	0.773060382927057	0.23705	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	0.779	0.17694	0.693000	0.25176	1.245000	0.25132	0.658000	0.54486	0.160000	0.23797	0.057000	0.21958	0.696000	0.34018	0.514:0.3593:0.1267:0.0	6.909	0.23507	66	0.97223	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002016	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	769.33	38	chr10	104002896	.	A	G	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=762;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.82;SOR=0.879	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr10	104034193	104034193	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon52:c.G3908A:p.R1303Q	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	32689	Epidermolysis_bullosa,_junctional_4,_intermediate|COL17A1-related_disorder|Epithelial_recurrent_erosion_dystrophy|not_provided	MONDO:MONDO:0030750,MedGen:C2608084,OMIM:619787|.|MONDO:MONDO:0007381,MedGen:C1852551,OMIM:122400,Orphanet:293381|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.546	0.104682049413	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	6.455e-05	0.0001294	20	154602	rs121912771	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.973e-05	0.0001	0.0001	2.989e-05	0	0	7.562e-05	3.755e-05	0	0.0001	3.316e-05	0.0002	0.0002	0.0002	0.0002	9.399e-05	0.0004	0.0001	9.233e-05	0.0002	0.0002	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0004	0.487	0.19361	T	0.329	0.22694	T	0.715	0.42183	P	0.143	0.33763	B	0.003576	0.34767	N	0.000000	4.41489e-10	0.08975	A	1.37	0.34214	L	-2.79	0.91134	D	-0.75	0.21003	N	0.265	0.30004	-0.5355	0.67334	T	0.472	0.79716	T	10	0.5087986	0.61975	D	0.104682	0.77940	D	0.546	0.81135	.	.	0.672318618897	0.66954	0.30015711648639876	0.29928	0.0753709897467	0.08448	0.441708922386	0.30811	T	0.209301	0.56948	T	-0.0610073	0.42750	T	0.00665522	0.70766	D	0.0653609981101725	0.07984	T	0.572443	0.20452	T	0.1265333	0.29634	0.10324836	0.24768	0.13233986	0.30819	0.08397025	0.19284	-3.024	0.10442	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	2.402917	0.30876	18.57	0.82224107185953377	0.14082	0.33209	0.24773	N	AEFDBCI	0.110360	0.21886	N	-0.602801834667604	0.18859	0.982547	-0.637327836458153	0.18537	0.9906897	0.944367920998042	0.27612	0.475973	0.10046	0	0.514364	0.08380	0	0.536957	0.11973	0	0.528226	0.09195	0	.	.	4.87	3.96	0.45097	0.491000	0.22128	1.146000	0.24443	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.321000	0.24994	0.0:0.7088:0.2912:0.0	13.701	0.62090	54	0.97570	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	981.33	34	chr10	104034193	.	C	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.632;SOR=0.617	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1409	18	0	1	0
chr10	104057122	104057122	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon17:c.G1318A:p.G440S	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	865375	Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0145993442105	0.0002	0.000599042	0.0001	0	0	0.0007	0	0.0001	0	0	0.00011	17	154602	rs139463731	0.0001	0.0001	0.0001	0.0001	0.0004	9.235e-05	8.698e-05	0.0002	0.0002	3.435e-05	0	0.0001	0.0004	0	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0002	6.959e-05	0.0015	7.851e-05	6.507e-05	0.0008	0.0006	5.519e-05	0	0	0	0.0015	0	0	0.0001	0	0	0.004	0.65419	D	0.033	0.53072	D	0.002	0.16867	B	0.002	0.06944	B	0.938978	0.07582	N	1.039460	1	0.08975	N	0.55	0.14455	N	0.89	0.45636	T	-1.28	0.39503	N	0.228	0.27077	-0.9598	0.39218	T	0.115	0.40853	T	10	0.008690417	0.00197	T	0.014599	0.34823	T	0.089	0.25827	.	.	0.180583059064	0.17676	0.3921376840144152	0.39128	0.0659250797848	0.07352	0.33133020997	0.15136	T	0.31357	0.68531	T	-0.45717	0.01024	T	-0.57446	0.15043	T	0.0462331531334163	0.04826	T	0.381062	0.12628	T	0.046903074	0.07928	0.071208246	0.15221	0.046903074	0.07928	0.071208246	0.15221	-5.81	0.44661	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	0.250037	0.06296	2.752	0.72383559144225651	0.09954	0.04414	0.10004	N	AEFBCI	0.039817	0.05836	N	-1.52682657942556	0.01675	0.07328486	-1.53931677527008	0.02050	0.0937324	0.995665256709419	0.34254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	-0.208000	0.09375	0.085000	0.14440	-1.617000	0.00873	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8659:0.0:0.1341	12.339	0.54411	48	0.97687	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	512.33	65	chr10	104057122	.	C	T	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=905;ExcessHet=0;FS=4.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.989;SOR=1.297	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr10	104179076	104179076	T	C	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon19:c.A2413G:p.K805E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00523661443624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	0.01930	T	1.0	0.02447	T	0.002	0.09854	B	0.001	0.04355	B	0.100399	0.02541	N	1.873030	1	0.08975	N	.	.	.	2.7	0.12268	T	0.96	0.01949	N	0.11	0.10911	-1.0082	0.27479	T	0.020	0.08593	T	10	0.02195248	0.00536	T	0.005237	0.13371	T	0.028	0.06331	0.228	0.15406	0.0986583533028	0.09354	0.06879267936214661	0.06817	0.184458510104	0.20745	0.259733021259	0.04859	T	0.024065	0.18256	T	-0.276161	0.11079	T	-0.634463	0.10078	T	0.0328906141221523	0.02453	T	0.433257	0.13535	T	0.05098065	0.09294	0.048600614	0.07254	0.05098065	0.09294	0.048600614	0.07254	-2.231	0.04194	T	.	.	0.085	0.10352	B	.;.	.;.	1.063239	0.14453	11.02	0.28331842203332841	0.01450	0.10189	0.15764	N	AEFBI	0.064953	0.12642	N	-1.06430734414347	0.07310	0.3391687	-0.960088369631708	0.10690	0.5400049	0.068653966984005	0.15465	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.52	0.752	0.17546	0.233000	0.17689	-0.158000	0.11351	-0.147000	0.12262	0.525000	0.27150	0.000000	0.08366	0.915000	0.45038	0.0:0.2618:0.4959:0.2423	5.739	0.17351	85	0.96447	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1669.33	33	chr10	104179076	.	T	C	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.225;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.13;SOR=0.695	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	104358459	104358459	A	G	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon2:c.A128G:p.Y43C	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	7.7e-05	0.00259585	0.0017	9.804e-05	0.0003	0.0001	0	0.0001	0.0011	0.0114	0.0014101	218	154602	rs368634585	0.0008	0.0008	0.0005	0.0011	0.0119	0.0008	0.0007	0.0113	0.0110	0	0.0002	0	2.519e-05	0	0.0016	5.576e-05	0.0008	0.0119	0.0003	0.0003	0.0002	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0.0002	0	0	0	0	5.881e-05	0	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.114128	0.999991	0.81001	D	.	.	.	0.24	0.59583	T	-8.17	0.96779	D	0.883	0.88137	0.166	0.85336	D	0.488	0.80515	T	10	0.015150338	0.00318	T	.	.	.	0.534	0.80426	.	.	0.484182897458	0.48051	0.761750114499266	0.76123	0.311889514168	0.33491	0.728229939938	0.71248	T	0.311709	0.68358	T	-0.0048353	0.50985	T	0.229673	0.84653	D	0.213273793058904	0.21123	T	0.919108	0.70849	D	0.8232791	0.85442	0.8305938	0.90223	0.8232791	0.85443	0.8305938	0.90224	-10.999	0.79653	D	.	.	0.846	0.79542	P	.	.	4.738330	0.76383	26.5	0.99840437554188732	0.92057	0.96648	0.70202	D	AEFI	0.843372	0.76041	D	0.888156312809238	0.91168	10.74845	0.821724997600397	0.91261	10.79824	0.999986608286928	0.51787	0.549168	0.22868	0	0.610034	0.51514	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.57	5.57	0.84021	6.006000	0.70384	9.266000	0.79598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.035	0.80419	130	0.94779	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	715.33	34	chr10	104358459	.	A	G	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.909;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	18	0	1	0
chr10	104403775	104403775	C	T	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon14:c.C2086T:p.R696C	.	431	1057	32	2	0	36	0.0167442	.	.	.	2476447	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0052	0.00259585	0.0081	0.0017	0.0036	0	0.0099	0.0109	0.0157	0.0074	0.0066752	1032	154602	rs41291850	0.0061	0.0061	0.0060	0.0062	0.0224	0.0060	0.0060	0.0192	0.0180	0.0026	0.0039	0.0158	0	0.0068	0.0224	0.0062	0.0061	0.0054	0.0054	0.0054	0.0058	0.0050	0.0070	0.0051	0.0049	0.0064	0.0062	0.0017	0.0450	0.0040	0.0144	0	0.0069	0.0171	0.0070	0.0080	0.0058	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.997722	0.44134	D	.	.	.	0.68	0.51952	T	-6.04	0.89759	D	0.881	0.87917	-0.5065	0.68414	T	0.219	0.58201	T	10	0.010658532	0.00236	T	.	.	.	0.407	0.71946	.	.	0.222439326576	0.21863	0.45950999133994724	0.45868	0.321224404552	0.34324	0.757634103298	0.75578	T	0.347664	0.71576	T	-0.114791	0.33979	T	0.0680251	0.74780	D	0.0491292485206572	0.05347	T	0.963604	0.86445	D	0.65789926	0.75786	0.56642973	0.74903	0.65789926	0.75788	0.56642973	0.74904	-11.21	0.80797	D	.	.	0.201	0.42433	B	.	.	3.605372	0.50945	23.0	0.99787020084262223	0.87308	0.69200	0.34094	D	AEFBI	0.342579	0.43868	N	0.0422597570836899	0.43788	2.664864	-0.126369937867833	0.34331	1.973575	5.10848688898562E-5	0.03989	0.553676	0.25195	0	0.610034	0.51514	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.5	-0.567	0.11175	2.911000	0.48472	0.114000	0.14823	-0.224000	0.07868	0.989000	0.36753	0.001000	0.17328	0.927000	0.46353	0.6978:0.3022:0.0:0.0	16.178	0.81677	161	0.93754	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.020161	0.015152	0.019022	0.032164	0.000000	0.008621	0.018405	0.026515	0.02632	2522.33	36	chr10	104403775	.	C	T	2522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=880;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.736;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	18	0	1	0
chr10	107164511	107164511	C	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_001013031:exon1:c.G16A:p.A6T,SORCS1:NM_001206569:exon1:c.G16A:p.A6T,SORCS1:NM_001206570:exon1:c.G16A:p.A6T,SORCS1:NM_001206571:exon1:c.G16A:p.A6T,SORCS1:NM_001206572:exon1:c.G16A:p.A6T,SORCS1:NM_052918:exon1:c.G16A:p.A6T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.173404486065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239308064	1.676e-06	8.209e-06	1.615e-06	1.742e-06	2.025e-06	2.8e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.025e-06	0	0	6.583e-06	6.57e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.0	0.91255	D	0.123	0.35582	T	0.091	0.25247	B	0.012	0.16012	B	0.004138	0.34080	N	0.000000	0.996229	0.23079	N	0	0.06538	N	2.4	0.15608	T	-0.22	0.10480	N	0.273	0.30914	-1.0056	0.28277	T	0.021	0.08732	T	9	0.098932296	0.17921	T	0.173404	0.85011	D	0.010	0.01040	0.322	0.30226	0.043077524339	0.03247	0.2142828322049302	0.21344	.	.	0.845486283302	0.88931	D	0.068589	0.33494	T	-0.279286	0.10743	T	-0.638951	0.09745	T	0.633903881681329	0.37780	D	0.721828	0.33531	T	0.12575166	0.29471	0.18132766	0.40989	0.12575166	0.29471	0.18132766	0.40988	-5.407	0.40987	T	.	.	0.163	0.36053	B	.	.	2.442337	0.31438	18.74	0.99572115151999252	0.72440	0.48387	0.28195	N	AEFDBCIJ	0.064654	0.12568	N	-0.397760839872782	0.25548	1.387693	-0.273811438892922	0.28965	1.619045	0.902844638680266	0.26137	0.487112	0.14033	0	0.59043	0.45803	0	0.503968	0.08637	0	0.564101	0.26826	0	.	.	3.96	3.05	0.34272	2.466000	0.44742	-1.853000	0.04608	0.511000	0.23309	0.828000	0.30104	0.000000	0.08366	0.745000	0.35611	0.0:0.6774:0.2104:0.1122	5.366	0.15415	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	22	chr10	107164511	.	C	T	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=697;ExcessHet=0;FS=3.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.449;SOR=1.204	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	18	0	1	0
chr10	110122294	110122294	T	C	splicing	ADD3	NM_001320591:exon10:c.1143+2T>C;NM_001320592:exon9:c.1143+2T>C;NM_001320593:exon9:c.1143+2T>C;NM_019903:exon9:c.1143+2T>C;NM_001121:exon9:c.1143+2T>C;NM_001320594:exon10:c.909+2T>C;NM_016824:exon9:c.1143+2T>C	.	.	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	.	.	.	.	.	.	.	0.9892	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38887	0.89257	D	0.320808	0.89122	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.505262	0.91630	32	0.99472051321756627	0.66419	0.99211	0.92869	D	AEFGBI	.	.	.	1.12429404270019	0.98559	18.63119	0.976091912694139	0.98109	17.44829	0.999999865142739	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.221052	0.04502	0	0.976281	0.79478	5.77	5.77	0.91077	7.674000	0.83146	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.0:1.0	16.136	0.81299	951	0.11083	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	739.33	36	chr10	110122294	.	T	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=654;ExcessHet=0;FS=1.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.01;SOR=0.483	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	18	0	1	0
chr10	110799866	110799866	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon7:c.G1748A:p.G583D	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	198203	Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1DD|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.403	0.0180794661642	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767827357	2.715e-05	2.599e-05	2.678e-05	2.752e-05	0.0002	2.018e-05	1.767e-05	3.809e-05	2.257e-05	3.165e-05	0.0001	0	0	0	0.0002	2.688e-05	5.16e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.444	0.09155	T	1.0	0.01155	T	.	.	.	.	.	.	0.041758	0.23916	N	0.426761	0.994764	0.42407	D	.	.	.	-1.5	0.81318	D	-2.77	0.58733	D	0.277	0.31365	-0.5822	0.65530	T	0.327	0.69487	T	10	0.18673912	0.34152	T	0.018079	0.40021	T	0.403	0.71636	.	.	0.578489777024	0.57519	0.6028542314243824	0.60216	.	.	0.595799028873	0.52311	T	.	.	.	-0.152634	0.27900	T	-0.220356	0.52704	T	0.26274561882019	0.23434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34558	B	.	.	3.019489	0.40410	21.2	0.99023122047209533	0.50634	0.85210	0.44323	D	AEFBI	0.290836	0.40212	N	0.0816006958583592	0.45606	2.814261	0.236832013952499	0.51903	3.369004	0.999998766040178	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	4.898000	0.62925	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2803:0.0:0.7197:0.0	5.512	0.16174	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	43	chr10	110799866	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.602;DP=828;ExcessHet=0;FS=3.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.89;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.02632	1195.33	35	chr10	111078748	.	C	G	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.78;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	18	0	1	0
chr10	112404565	112404565	C	G	exonic	ACSL5	.	nonsynonymous SNV	ACSL5:NM_016234:exon4:c.C488G:p.S163C,ACSL5:NM_203379:exon4:c.C320G:p.S107C,ACSL5:NM_203380:exon4:c.C320G:p.S107C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0429880580984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018514557	4.107e-06	4.104e-06	4.086e-06	4.127e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.599e-06	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.976	0.73562	D	0.012635	0.29108	N	0.370099	0.984121	0.40103	D	4.025	0.96902	H	2.38	0.15843	T	-3.61	0.69477	D	0.566	0.58968	-0.4836	0.69238	T	0.195	0.54855	T	10	0.7600117	0.76273	D	0.042988	0.60749	D	0.366	0.68582	0.823	0.93527	0.774536553626	0.77246	0.5980557695497806	0.59736	0.583464882582	0.54057	0.413484722376	0.26939	T	0.273983	0.64645	T	-0.0145545	0.49626	T	-0.258683	0.48955	T	0.996402740478516	0.89278	D	0.978052	0.92224	D	0.7575764	0.81311	0.61439496	0.77557	0.7575764	0.81312	0.61439496	0.77558	-10.622	0.77545	D	.	.	0.133	0.34138	B	.;.;.;.;.	.;.;.;.;.	4.699378	0.75381	26.3	0.99246948841849725	0.56727	0.89033	0.49261	D	AEFBCI	0.910351	0.86816	D	0.896625663780745	0.91591	10.96269	0.803059275982461	0.90005	10.215	0.99987963227734	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.15	5.15	0.70287	5.878000	0.69429	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.766	0.88387	841	0.37094	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	33	chr10	112404565	.	C	G	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.606;DP=761;ExcessHet=0;FS=5.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.143;SOR=0.355	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1474	18	0	1	0
chr10	112410608	112410608	G	A	exonic	ACSL5	.	nonsynonymous SNV	ACSL5:NM_016234:exon9:c.G937A:p.V313I,ACSL5:NM_203379:exon9:c.G769A:p.V257I,ACSL5:NM_203380:exon9:c.G769A:p.V257I	.	418	1103	1	0	0	1	0.000453104	.	.	.	4109879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00284787274729	.	.	0.0001	0	9.04e-05	0	0.0002	9.289e-05	0	0.0004	9.06e-05	14	154602	rs186230656	8.689e-05	8.687e-05	7.079e-05	0.0001	0.0003	7.421e-05	6.97e-05	0.0002	0.0002	5.975e-05	4.474e-05	3.827e-05	0	0.0002	0.0002	6.925e-05	0.0001	0.0003	5.912e-05	5.906e-05	5.142e-05	6.716e-05	8.821e-05	3.077e-05	2.21e-05	3.762e-05	2.575e-05	0	0	6.542e-05	0.0003	0	9.425e-05	0	8.821e-05	0	0	0.871	0.02600	T	0.745	0.05256	T	0.002	0.09854	B	0.002	0.11217	B	0.007173	0.31557	N	0.362185	0.93764	0.26885	N	0.585	0.15399	N	0.97	0.42502	T	-0.31	0.12099	N	0.087	0.16028	-1.0496	0.14509	T	0.043	0.18451	T	10	0.032535523	0.01408	T	0.002848	0.05986	T	0.036	0.09122	.	.	0.141422826196	0.13715	0.13778527283159708	0.13702	0.127649343088	0.14390	0.275376141071	0.06857	T	0.019578	0.15574	T	-0.507865	0.00516	T	-0.661312	0.08178	T	0.00664574187248945	0.00074	T	0.668933	0.27772	T	0.016169734	0.00180	0.024748981	0.00500	0.016169734	0.00180	0.024748981	0.00500	-1.879	0.03019	T	.	.	0.058	0.00979	B	.;.;.;.;.	.;.;.;.;.	-0.647217	0.01448	0.088	0.65643957175319922	0.07831	0.02018	0.06063	N	AEFBI	0.197156	0.32410	N	-1.03646008006026	0.07855	0.3663587	-0.942222928214016	0.11105	0.5636639	9.26630624063106E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.39	0.090	0.13773	0.194000	0.16941	-0.140000	0.11527	-0.554000	0.04884	0.003000	0.16062	0.000000	0.08366	0.503000	0.29084	0.4324:0.2358:0.3318:0.0	5.313	0.15149	829	0.39537	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	724.33	33	chr10	112410608	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.112;DP=706;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.482;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	18	0	1	0
chr10	113589697	113589697	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon40:c.A4949G:p.N1650S,NRAP:NM_006175:exon40:c.A4952G:p.N1651S,NRAP:NM_001261463:exon41:c.A5057G:p.N1686S,NRAP:NM_198060:exon41:c.A5057G:p.N1686S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00634438329926	.	.	2.477e-05	0	8.64e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs774507330	3.215e-05	3.215e-05	2.859e-05	3.575e-05	0.0002	2.478e-05	2.22e-05	0.0001	0.0001	5.974e-05	0.0002	0	0	0	0.0002	9.892e-06	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0	4.41e-05	0	0	0.864	0.02645	T	0.201	0.29056	T	0.0	0.02946	B	0.002	0.06944	B	0.001201	0.39899	N	0.286864	0.999207	0.21792	N	1.95	0.52479	M	2.56	0.16089	T	0.85	0.01736	N	0.143	0.15328	-0.9862	0.33542	T	0.027	0.11707	T	10	0.06070918	0.07499	T	0.006344	0.16668	T	0.084	0.24469	.	.	0.373357554552	0.36949	0.26149541921686714	0.26062	0.0590435623881	0.06558	0.324397563934	0.14087	T	0.002452	0.02616	T	-0.460485	0.00977	T	-0.607082	0.12223	T	0.0493235410873956	0.05381	T	0.79872	0.44372	T	0.046570465	0.07817	0.06412569	0.12806	0.046570465	0.07817	0.06412569	0.12806	0.327	0.00252	T	.	.	0.084	0.10352	B	.;.;.;.	.;.;.;.	1.632311	0.20842	14.93	0.73326261491323808	0.10287	0.41396	0.26648	N	AEFDBHCI	0.543849	0.55901	D	-0.279946001322987	0.29922	1.663782	-0.0475613201787289	0.37597	2.203429	0.9976368553018	0.35843	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	2.557000	0.45533	0.936000	0.22816	0.665000	0.62972	0.994000	0.38300	0.782000	0.26788	0.990000	0.65344	0.1289:0.0:0.0:0.8711	12.058	0.52844	904	0.23766	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	397.33	38	chr10	113589697	.	T	C	397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=2.45;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1174	18	0	1	0
chr10	113589703	113589703	A	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon40:c.T4943A:p.L1648Q,NRAP:NM_006175:exon40:c.T4946A:p.L1649Q,NRAP:NM_001261463:exon41:c.T5051A:p.L1684Q,NRAP:NM_198060:exon41:c.T5051A:p.L1684Q	.	425	1091	6	0	0	6	0.00274223	.	.	.	3191801	not_specified|NRAP-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.376	0.030079893334	0.0047	0.00219649	0.0033	0.0010	0.0018	0	0.0009	0.0049	0.0011	0.0022	0.0036028	557	154602	rs4918857	0.0060	0.0060	0.0062	0.0057	0.0070	0.0058	0.0058	0.0069	0.0068	0.0005	0.0019	0.0066	0	0.0006	0.0028	0.0070	0.0058	0.0024	0.0040	0.0040	0.0042	0.0037	0.0068	0.0037	0.0036	0.0063	0.0061	0.0013	0.0143	0.0020	0.0063	0	0.0007	0	0.0068	0.0014	0.0025	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999905	0.51612	D	2.33	0.66821	M	1.78	0.30401	T	-3.45	0.67589	D	0.923	0.98466	-0.8965	0.48341	T	0.138	0.45470	T	10	0.031103611	0.01242	T	0.03008	0.52463	D	0.376	0.69443	.	.	0.448201132538	0.44443	0.7628759791928482	0.76235	0.433554578139	0.43508	0.636792838573	0.58108	T	0.087235	0.37897	T	-0.0952403	0.37210	T	0.0959671	0.76641	D	0.0169195477209409	0.00443	T	0.848715	0.53298	T	0.7869272	0.83082	0.8042382	0.88536	0.7869272	0.83084	0.8042382	0.88536	-6.124	0.47305	T	.	.	0.190	0.42185	B	.;.;.;.	.;.;.;.	4.751016	0.76717	26.6	0.99502846525534228	0.68147	0.94451	0.61208	D	AEFDBHCI	0.980104	0.99831	D	0.838838439721313	0.88463	9.588076	0.84220955289358	0.92555	11.49328	0.999999997139492	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	7.534000	0.80907	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.394	0.83400	904	0.23766	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	655.33	38	chr10	113589703	.	A	T	655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=730;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.941;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1174	18	0	1	0
chr10	113614942	113614942	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon27:c.G2975A:p.R992H,NRAP:NM_006175:exon27:c.G2978A:p.R993H,NRAP:NM_001261463:exon28:c.G3083A:p.R1028H,NRAP:NM_198060:exon28:c.G3083A:p.R1028H	.	405	1111	6	0	0	6	0.002693	.	.	.	2212354	Inborn_genetic_diseases|NRAP-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.00976952176891	7.7e-05	0.00179712	0.0008	0	0.0005	0.0001	0	0.0003	0.0011	0.0039	0.0006856	106	154602	rs200591335	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0032	0.0030	6.071e-05	0.0003	0.0007	0	0	0.0026	0.0002	0.0005	0.0035	0.0003	0.0003	0.0003	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	4.815e-05	0	0.0003	0.0014	0	0	0	0.0003	0.0009	0.0043	0.456	0.23541	T	0.095	0.39492	T	0.375	0.34209	B	0.076	0.28435	B	0.000345	0.45440	D	0.201393	1	0.81001	D	0.75	0.19020	N	2.52	0.16640	T	-0.34	0.12661	N	0.222	0.24883	-1.0231	0.22704	T	0.026	0.10998	T	10	0.012930155	0.00276	T	0.00977	0.25495	T	0.152	0.39956	.	.	0.384086055536	0.38021	0.34233363619510393	0.34146	0.105942432008	0.11982	0.548920571804	0.45706	T	0.008592	0.07877	T	-0.390313	0.02678	T	-0.334907	0.40919	T	0.0236437510889523	0.01101	T	0.921408	0.71494	D	0.0972468	0.22920	0.0797089	0.17967	0.0972468	0.22920	0.0797089	0.17967	-6.3	0.48722	T	.	.	0.096	0.17615	B	.;.;.;.	.;.;.;.	3.269928	0.44761	22.0	0.96113061550661771	0.28751	0.60914	0.31332	D	AEFGBI	0.378535	0.46189	N	-0.31421189489725	0.28608	1.579322	-0.152513864829307	0.33311	1.904201	0.999994709431649	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	1.405000	0.34243	5.996000	0.52409	0.599000	0.40250	0.278000	0.25122	1.000000	0.68203	0.826000	0.38927	0.0:1.0:0.0:0.0	19.083	0.93173	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.011765	0.000000	0.008621	0.000000	0.000000	0.05263	4870.83	254	chr10	113614942	.	C	T	4870.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1078;ExcessHet=0.119;FS=2.445;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.545;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	17	0	2	0
chr10	113622035	113622035	T	G	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon23:c.A2495C:p.K832T,NRAP:NM_006175:exon23:c.A2498C:p.K833T,NRAP:NM_001261463:exon24:c.A2603C:p.K868T,NRAP:NM_198060:exon24:c.A2603C:p.K868T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0393759058379	.	.	4.118e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs780583055	5.472e-06	5.472e-06	0	1.1e-05	9.275e-05	2.35e-06	1.7e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.74150	D	0.923	0.51194	P	0.806	0.58437	P	0.000006	0.62929	D	0.140928	1	0.81001	D	3.18	0.88827	M	-0.04	0.63240	T	-5.34	0.84674	D	0.614	0.65930	-0.5634	0.66274	T	0.340	0.70584	T	10	0.56689894	0.65101	D	0.039376	0.58773	D	0.383	0.70029	0.467	0.53891	0.796960931112	0.79507	0.6055419517626552	0.60485	0.344227870731	0.36350	0.322431653738	0.13789	T	0.349516	0.71736	T	-0.120423	0.33053	T	-0.151076	0.59148	T	0.928123533725739	0.59139	D	0.917308	0.70348	D	0.75584346	0.81209	0.64246076	0.79106	0.75584346	0.81210	0.64246076	0.79107	-10.783	0.78454	D	.	.	0.400	0.60264	A	.;.;.;.	.;.;.;.	2.511833	0.32444	19.04	0.99740648709643875	0.83482	0.97265	0.73672	D	AEFBI	0.385549	0.46625	N	0.075466122056093	0.45320	2.790501	-0.0751637493401395	0.36420	2.119291	5.6050708138429E-4	0.07304	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	5.99	-0.923	0.09933	1.828000	0.38750	-0.197000	0.10982	0.665000	0.62972	0.988000	0.36536	0.001000	0.17328	0.984000	0.60418	0.0:0.3739:0.0:0.6261	10.384	0.43310	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	993.33	43	chr10	113622035	.	T	G	993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=789;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.829;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr10	113622137	113622137	A	G	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon23:c.T2393C:p.I798T,NRAP:NM_006175:exon23:c.T2396C:p.I799T,NRAP:NM_001261463:exon24:c.T2501C:p.I834T,NRAP:NM_198060:exon24:c.T2501C:p.I834T	.	431	1070	19	2	0	23	0.0106334	.	.	.	3213535	not_specified|not_provided|NRAP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.0153856294144	0.0013	0.00119808	0.0018	0.0003	0.0013	0.0010	0	0.0025	0.0011	0.0016	0.0017594	272	154602	rs112597942	0.0016	0.0016	0.0014	0.0017	0.0106	0.0015	0.0015	0.0085	0.0077	0.0004	0.0015	0.0047	0.0007	0.0001	0.0106	0.0015	0.0021	0.0016	0.0015	0.0015	0.0016	0.0015	0.0021	0.0014	0.0013	0.0018	0.0016	0.0004	0	0.0021	0.0043	0.0012	9.413e-05	0.0136	0.0020	0.0066	0.0021	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.048569	0.999378	0.81001	D	2.97	0.85306	M	2.34	0.22474	T	-3.43	0.67824	D	0.802	0.81559	-0.9275	0.44502	T	0.153	0.48274	T	10	0.035427004	0.01790	T	0.015386	0.36094	T	0.367	0.68670	.	.	0.489658423131	0.48598	0.45700396603038335	0.45618	0.243319615468	0.26841	0.530752539635	0.43141	T	0.169697	0.51717	T	-0.151697	0.28045	T	0.00346405	0.70561	D	0.0458351282532397	0.04753	T	0.90251	0.67561	D	0.5705273	0.71089	0.7619324	0.85935	0.5705273	0.71091	0.7619324	0.85935	-7.348	0.56536	T	.	.	0.153	0.33913	B	.;.;.;.	.;.;.;.	4.314021	0.65970	24.9	0.99843710803384478	0.92403	0.99342	0.94758	D	AEFBI	0.886877	0.81865	D	0.802461005414676	0.86259	8.828399	0.769461232356726	0.87601	9.279313	0.999996677748471	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	7.316000	0.78319	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	16.494	0.84067	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	973.33	43	chr10	113622137	.	A	G	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.082;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-1.843;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr10	113651835	113651835	G	A	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001261463:exon7:c.C643T:p.R215W,NRAP:NM_001322945:exon7:c.C643T:p.R215W,NRAP:NM_006175:exon7:c.C643T:p.R215W,NRAP:NM_198060:exon7:c.C643T:p.R215W	.	431	1089	2	0	0	2	0.000917431	.	.	.	2809636	not_provided|not_specified|NRAP-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.277	0.0511482780344	0.0013	.	0.0010	0.0006	0.0006	0	0	0.0015	0	0.0008	0.0008667	134	154602	rs140934697	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0015	0.0012	0.0001	0.0006	3.829e-05	5.039e-05	7.496e-05	0.0024	0.0006	0.0006	0.0010	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0007	0.0002	0	0.0008	0	0	0	0.0034	0.0009	0	0.0008	0.017	0.55530	D	0.033	0.53072	D	0.994	0.70673	D	0.84	0.63994	P	0.000038	0.55875	D	0.124578	0.975564	0.39200	D	2.395	0.69210	M	0.6	0.53731	T	-1.87	0.43717	N	0.505	0.54671	-0.3545	0.73424	T	0.311	0.68094	T	10	0.094029784	0.16687	T	0.051148	0.64539	D	0.277	0.59375	.	.	0.815953179804	0.81422	0.5836155178956934	0.58290	0.414972300621	0.42166	0.429854214191	0.29189	T	0.019372	0.15446	T	-0.266633	0.12135	T	-0.196309	0.54996	T	0.034271340484421	0.02684	T	0.823618	0.52386	T	0.3490688	0.56994	0.27648494	0.53593	0.3490688	0.56994	0.27648494	0.53592	-10.724	0.78123	D	.	.	0.345	0.57517	A	.;.;.;.	.;.;.;.	4.487599	0.70070	25.5	0.99873759770487736	0.95076	0.92242	0.55263	D	AEFI	0.724793	0.67398	D	0.544700352043934	0.69761	5.402923	0.476767884078999	0.66452	4.954111	0.43141099913205	0.20375	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	5.11	0.69188	5.709000	0.68037	4.923000	0.46060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.8329:0.1671	12.493	0.55251	912	0.21483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	629.33	33	chr10	113651835	.	G	A	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.954;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr10	113679864	113679864	C	T	exonic	CASP7	.	nonsynonymous SNV	CASP7:NM_001267057:exon1:c.C110T:p.P37L	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0	0	0	.	0.0005	0.0104	0.0022	9.7e-05	15	154602	rs773602269	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	0	0	0.0009	0	0	0.0012	6.484e-05	0.0002	0.0010	0.0001	0.0001	8.07e-05	0.0001	0.0011	6.899e-05	5.555e-05	0.0004	0.0003	0	0	0.0001	0.0006	0	0	0	0.0001	0	0.0011	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.998126	0.25774	N	.	.	.	.	.	.	.	.	.	0.164	0.17278	.	.	.	.	.	.	.	0.022628605	0.00570	T	.	.	.	.	.	.	.	0.740237584954	0.73791	0.12038199031824667	0.11965	.	.	0.656003177166	0.60839	T	0.010247	0.09270	T	-0.429503	0.01492	T	-0.430261	0.29906	T	.	.	.	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18539	B	.	.	2.080246	0.26459	17.12	0.90174997574030924	0.19451	0.01353	0.04639	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999996	0.74766	0.030766	0.00208	2	0.08856	0.02465	0	0.024116	0.00154	2	0.088244	0.02422	0	0.111725	0.23784	3.12	2.18	0.26813	1.408000	0.34277	6.084000	0.53377	0.522000	0.23927	0.007000	0.17678	0.901000	0.27973	0.030000	0.13115	0.0:0.7867:0.2133:0.0	9.737	0.39559	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	924.33	59	chr10	113679864	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=857;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.487;SOR=1.169	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr10	114220663	114220663	G	C	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon17:c.G2248C:p.V750L,TDRD1:NM_001385366:exon18:c.G2419C:p.V807L,TDRD1:NM_001385371:exon18:c.G2446C:p.V816L,TDRD1:NM_001365891:exon19:c.G2590C:p.V864L,TDRD1:NM_001385363:exon19:c.G2590C:p.V864L,TDRD1:NM_001385364:exon19:c.G2590C:p.V864L,TDRD1:NM_001385365:exon19:c.G2590C:p.V864L,TDRD1:NM_001385367:exon19:c.G2590C:p.V864L,TDRD1:NM_001385368:exon19:c.G2590C:p.V864L,TDRD1:NM_001385369:exon19:c.G2590C:p.V864L,TDRD1:NM_001385372:exon19:c.G2590C:p.V864L,TDRD1:NM_198795:exon19:c.G2590C:p.V864L	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00897890147148	0.0038	0.00299521	0.0024	0.0060	0.0059	0	0.0002	0.0023	0.0099	0.0001	0.0025744	398	154602	rs7914059	0.0026	0.0026	0.0027	0.0025	0.0135	0.0025	0.0025	0.0111	0.0102	0.0075	0.0072	0.0026	5.04e-05	5.616e-05	0.0135	0.0025	0.0044	0.0002	0.0042	0.0042	0.0044	0.0040	0.0084	0.0039	0.0038	0.0073	0.0068	0.0068	0	0.0084	0.0020	0	0	0.0136	0.0029	0.0123	0	0.251	0.18308	T	0.407	0.14679	T	0.0	0.02946	B	0.001	0.04355	B	0.393321	0.13225	N	0.744172	1	0.08975	N	0.55	0.14455	N	3.07	0.08547	T	-0.55	0.16799	N	0.113	0.10626	-0.9723	0.36712	T	0.012	0.04416	T	10	0.0057115555	0.00127	T	0.008979	0.23655	T	0.080	0.23350	.	.	0.0934897674506	0.08844	0.2987666964497419	0.29789	0.190863816393	0.21398	0.291804879904	0.09185	T	.	.	.	-0.729044	0.00024	T	-0.810602	0.01652	T	0.000303526365367835	0.00002	T	0.644436	0.25592	T	.	.	.	.	.	.	.	.	-5.023	0.37089	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	0.589717	0.09582	6.356	0.79054049163036344	0.12570	0.06080	0.12053	N	AEFBI	0.043346	0.06841	N	-1.09160806242375	0.06796	0.313917	-1.03118507922896	0.09103	0.4510639	0.00120461467481162	0.08334	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	-5.45	0.02411	-0.355000	0.07721	0.763000	0.21331	0.662000	0.56354	0.432000	0.26424	0.937000	0.28687	0.993000	0.69303	0.2487:0.2501:0.3683:0.1329	2.744	0.04938	898	0.25240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020665	0.066327	0.024457	0.017544	0.000000	0.034483	0.003049	0.000000	0.02632	999.33	33	chr10	114220663	.	G	C	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=708;ExcessHet=0;FS=3.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-1.259;SOR=0.35	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	18	0	1	0
chr10	114254993	114254993	G	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.G206T:p.R69M,VWA2:NM_001320804:exon4:c.G206T:p.R69M	.	433	1081	8	0	0	8	0.00368664	.	.	.	3212798	VWA2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.591	0.0374396840868	0.0016	0.00139776	0.0019	0.0004	0.0007	0	0.0057	0.0027	0.0034	0.0001	0.0018693	289	154602	rs149309552	0.0023	0.0023	0.0023	0.0022	0.0028	0.0022	0.0022	0.0024	0.0024	0.0003	0.0012	0.0013	0	0.0064	0.0028	0.0025	0.0019	0.0001	0.0021	0.0021	0.0022	0.0020	0.0033	0.0019	0.0019	0.0025	0.0023	0.0005	0	0.0033	0.0037	0	0.0055	0.0034	0.0027	0.0005	0	0.115	0.28520	T	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.050292	0.986371	0.40422	D	2.61	0.76335	M	-1.74	0.83413	D	-2.11	0.48020	N	0.71	0.71321	0.241	0.86601	D	0.624	0.86784	D	10	0.022470683	0.00562	T	0.03744	0.57615	D	0.591	0.83691	.	.	0.715455935902	0.71296	0.7407333125427435	0.74018	.	.	0.477177649736	0.35668	T	0.119623	0.44129	T	-0.105086	0.35581	T	0.0716601	0.75021	D	0.0489822556685598	0.05320	T	0.833317	0.50212	T	0.4309146	0.62812	0.40183714	0.64682	0.4309146	0.62813	0.40183714	0.64682	-11.213	0.80813	D	0.6293867783956955	0.69861	0.319	0.54405	B	.	.	4.682282	0.74937	26.2	0.96441730639357182	0.29830	0.96169	0.67850	D	AEFGI	0.812973	0.73557	D	0.837202722487644	0.88366	9.552076	0.823361688343635	0.91367	10.85145	0.999998474186516	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	5.22	0.72285	4.686000	0.61388	6.634000	0.56161	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1483:0.8517:0.0	14.325	0.66073	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1525.33	33	chr10	114254993	.	G	T	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=815;ExcessHet=0;FS=5.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=1.08;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr10	114255010	114255010	A	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.A223T:p.I75F,VWA2:NM_001320804:exon4:c.A223T:p.I75F	.	431	1083	8	0	0	8	0.00367985	.	.	.	723782	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0003	0.013778	0.0096	0.0005	0.0368	0.0548	0.0160	0.0020	0.0078	0.0007	0.0086545	1338	154602	rs75028145	0.0033	0.0033	0.0035	0.0030	0.0483	0.0032	0.0032	0.0465	0.0458	0.0007	0.0295	0.0024	0.0483	0.0168	0.0004	0.0002	0.0040	0.0011	0.0054	0.0054	0.0046	0.0062	0.0540	0.0051	0.0049	0.0488	0.0468	0.0006	0	0.0177	0.0032	0.0540	0.0157	0	0.0006	0.0066	0.0019	0.223	0.18757	T	0.08	0.41913	T	0.947	0.53479	P	0.439	0.45685	B	0.877040	0.07211	N	1.055100	0.742667	0.33840	D	2.235	0.63160	M	-1.74	0.83413	D	-1.44	0.35399	N	0.41	0.45047	-0.5583	0.66469	T	0.106	0.38783	T	10	0.0033477843	0.00058	T	.	.	.	0.450	0.75074	.	.	.	.	0.42154765605563477	0.42070	.	.	0.27176630497	0.06373	T	0.088432	0.38156	T	-0.384518	0.02916	T	-0.278774	0.46930	T	0.0372307897526938	0.03197	T	0.738826	0.35731	T	0.21362944	0.43746	0.22648315	0.47628	0.21362944	0.43746	0.22648315	0.47627	-9.468	0.70660	D	0.2175417729178618	0.29281	0.210	0.43801	B	.	.	1.360791	0.17698	13.32	0.9854396474447461	0.42757	0.11892	0.16928	N	AEFGI	0.082789	0.16767	N	-0.293594131032781	0.29394	1.629702	-0.373127945094249	0.25801	1.421153	0.662758766936296	0.22289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-0.389	0.11835	-0.504000	0.06456	-0.203000	0.10926	-0.078000	0.16268	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.5149:0.2686:0.2165:0.0	5.075	0.13963	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1844.33	33	chr10	114255010	.	A	T	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=760;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.978;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr10	114289393	114289393	-	GGAGGCTTG	exonic	VWA2	.	nonframeshift insertion	VWA2:NM_001272046:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL,VWA2:NM_001320804:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL	.	431	1085	6	0	0	6	0.00275735	.	.	.	3199472	not_provided|VWA2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0068	0.00259585	0.0058	0.0011	0.0089	0	0.0006	0.0080	0.0066	0.0025	0.0018442	48	26028	rs553439419	0.0080	0.0080	0.0082	0.0077	0.0093	0.0078	0.0078	0.0090	0.0090	0.0010	0.0093	0.0043	0	0.0009	0.0073	0.0092	0.0089	0.0031	0.0062	0.0062	0.0062	0.0062	0.0111	0.0058	0.0057	0.0097	0.0092	0.0016	0.0066	0.0111	0.0046	0	0.0004	0	0.0095	0.0114	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1711.29	33	chr10	114289393	.	C	CGGAGGCTTG	1711.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=746;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.49;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	18	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L,VWA2:NM_001320804:exon13:c.G2182C:p.V728L	.	437	1079	6	0	0	6	0.00277264	.	.	.	712176	VWA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.283	0.0479908215589	.	0.00119808	0.0032	0.0011	0	0	0.0017	0.0068	0.0052	0.0014	0.0012225	189	154602	rs45560935	0.0071	0.0068	0.0072	0.0070	0.0084	0.0070	0.0070	0.0082	0.0082	0.0009	0.0030	0.0077	2.798e-05	0.0012	0.0032	0.0084	0.0065	0.0018	0.0042	0.0042	0.0045	0.0039	0.0073	0.0039	0.0038	0.0067	0.0065	0.0012	0	0.0033	0.0049	0	0.0010	0	0.0073	0.0052	0.0010	0.062	0.36912	T	0.08	0.41913	T	0.819	0.45682	P	0.272	0.39956	B	0.065105	0.21904	N	0.461364	0.999974	0.18612	N	1.425	0.35738	L	-3.0	0.92158	D	-0.77	0.21429	N	0.235	0.26475	-0.3627	0.73183	T	0.431	0.77258	T	9	0.010863394	0.00240	T	0.047991	0.63174	D	0.283	0.60100	.	.	0.256283259241	0.25257	0.5600709737082584	0.55934	.	.	0.328970015049	0.14778	T	0.133824	0.46473	T	-0.332222	0.05945	T	-0.243451	0.50462	T	0.00259579810364478	0.00027	T	0.643636	0.25529	T	0.06709533	0.14499	0.08920413	0.20845	0.06709533	0.14498	0.08920413	0.20844	-3.533	0.16897	T	0.206353611543292	0.27553	0.118	0.24088	B	.	.	0.803261	0.11738	8.316	0.91708217591352614	0.21002	0.22141	0.21645	N	AEFDGBCI	0.294190	0.40463	N	-0.884419530040341	0.11212	0.5398869	-0.998199850672625	0.09825	0.491107	0.0831568253700793	0.15920	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	-1.47	0.08312	0.330000	0.19460	-1.448000	0.05416	-0.667000	0.04321	0.023000	0.19925	0.000000	0.08366	0.431000	0.27472	0.5818:0.0:0.4182:0.0	10.348	0.43102	628	0.65206	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	CTB-1144G6.6	Nerve_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1791.33	33	chr10	114290299	.	G	C	1791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.794;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	18	0	1	0
chr10	114465811	114465811	C	T	exonic	ABLIM1	.	nonsynonymous SNV	ABLIM1:NM_001322896:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322897:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322900:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322888:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322890:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322891:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322892:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322893:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322894:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322895:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322898:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322899:exon7:c.G380A:p.R127Q,ABLIM1:NM_001352443:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322889:exon8:c.G464A:p.R155Q,ABLIM1:NM_006720:exon8:c.G464A:p.R155Q,ABLIM1:NM_001003407:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001322883:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001322884:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322885:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322886:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322887:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001352440:exon12:c.G1100A:p.R367Q,ABLIM1:NM_001352441:exon12:c.G1100A:p.R367Q,ABLIM1:NM_001352442:exon12:c.G872A:p.R291Q,ABLIM1:NM_002313:exon12:c.G1328A:p.R443Q,ABLIM1:NM_001322882:exon13:c.G1232A:p.R411Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3479011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0410112803198	0.0002	.	7.415e-05	9.61e-05	0	0	0	0.0001	0	6.06e-05	5.82e-05	9	154602	rs138601357	0.0001	0.0001	0.0001	0.0001	0.0007	9.199e-05	8.664e-05	0.0002	0.0001	8.961e-05	0.0002	0	0	0	0.0007	0.0001	6.623e-05	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.724e-05	0.0002	0.0002	2.415e-05	0	0.0001	0	0	0	0	0.0003	0	0	0.022	0.51248	D	0.019	0.63109	D	1.0	0.90584	D	0.973	0.86255	D	0.000283	0.46274	D	0.191119	1	0.81001	D	1.1	0.28011	L	-0.68	0.72568	T	-1.89	0.58896	N	0.884	0.90138	0.054	0.83312	D	0.538	0.82955	D	10	0.75485	0.75906	D	0.041011	0.59691	D	0.533	0.80367	.	.	0.843117472852	0.84161	0.5098057614868399	0.50902	1.15275571423	0.79265	0.584298491478	0.50691	T	0.069172	0.63841	T	0.0788717	0.61908	D	0.181494	0.82081	D	0.534127652645111	0.33886	D	0.983302	0.94559	D	0.19520293	0.41300	0.16299082	0.37833	0.19520293	0.41300	0.16299082	0.37832	-8.746	0.67581	D	.	.	0.195	0.41648	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.821324	0.93699	33	0.99938133052991818	0.99698	0.99770	0.99340	D	AEFBI	0.914403	0.87771	D	0.781825564779648	0.84956	8.435039	0.780864505503759	0.88432	9.580078	0.999999998607232	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	6.077000	0.70910	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.739	0.88311	782	0.47442	.;.;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	827.33	34	chr10	114465811	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.629;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	18	0	1	0
chr10	114972233	114972233	G	A	exonic	TRUB1	.	nonsynonymous SNV	TRUB1:NM_139169:exon6:c.G695A:p.S232N	.	.	.	.	.	.	.	.	.	.	.	2320338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00735489420965	.	.	0.0001	0	0	0	0	0	0.0011	0.0009	0.0001035	16	154602	rs772067082	5.216e-05	5.199e-05	2.731e-05	7.729e-05	0.0009	4.272e-05	3.901e-05	0.0007	0.0007	0	0	0	0	0	0	0	3.32e-05	0.0009	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.21	0.19639	T	0.375	0.16231	T	0.106	0.26037	B	0.102	0.30857	B	0.000070	0.52346	D	0.200143	0.631766	0.32796	D	0.1	0.08449	N	2.51	0.14284	T	-0.38	0.13418	N	0.251	0.28381	-1.0575	0.12388	T	0.028	0.12014	T	10	0.062464684	0.07990	T	0.007355	0.19496	T	0.030	0.07022	0.438	0.49157	0.464098490096	0.46036	0.39549193619174655	0.39464	0.278737890975	0.30353	0.448015779257	0.31673	T	0.03848	0.24853	T	-0.579957	0.00193	T	-0.686371	0.06601	T	0.0878594544164535	0.10962	T	0.773323	0.40460	T	0.119041905	0.28038	0.11942216	0.28824	0.119041905	0.28037	0.11942216	0.28824	-1.894	0.02805	T	.	.	0.078	0.06849	B	.	.	2.728349	0.35709	19.97	0.98763612254534627	0.45847	0.89641	0.50236	D	AEFBI	0.178018	0.30528	N	-0.139082727040802	0.35700	2.053965	0.0132285449928555	0.40328	2.40501	0.988045692757903	0.31404	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.138000	0.41764	8.479000	0.77294	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0801:0.0:0.9199:0.0	11.839	0.51619	891	0.26808	Pseudouridine synthase II, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr10	114972233	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=695;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=2;SOR=0.697	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1018,0,827	18	0	1	0
chr10	116444422	116444422	A	T	exonic	PNLIPRP3	.	nonsynonymous SNV	PNLIPRP3:NM_001011709:exon4:c.A365T:p.D122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0488450651148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.000000	0.998983	0.45816	D	4.36	0.98503	H	-3.73	0.95458	D	-8.27	0.96930	D	0.759	0.75742	0.989	0.97001	D	0.944	0.98180	D	10	0.9857701	0.98849	D	0.048845	0.63553	D	0.685	0.88490	0.904	0.97943	0.847823322792	0.84636	0.8653989483832158	0.86504	0.333543510513	0.35392	0.373652994633	0.21354	T	0.649311	0.89338	D	0.371135	0.88131	D	0.295333	0.87980	D	0.999196231365204	0.96500	D	0.918008	0.70480	D	0.8895571	0.90469	0.79626465	0.88036	0.8895571	0.90470	0.79626465	0.88036	-10.411	0.76334	D	.	.	0.269	0.50343	B	.	.	3.110433	0.41958	21.4	0.98784268989761381	0.46175	0.74024	0.36207	D	AEFBCI	0.077656	0.15650	N	0.316441557739167	0.56992	3.865048	0.051889023936809	0.42164	2.545512	0.0180440491980644	0.13016	0.525926	0.21836	0	0.573888	0.26702	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.07	2.57	0.29928	2.973000	0.48956	1.820000	0.29033	0.691000	0.84096	0.944000	0.32806	0.000000	0.08366	0.027000	0.12703	0.7079:0.0:0.0:0.2921	9.382	0.37478	771	0.49057	Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	562.33	43	chr10	116444422	.	A	T	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=684;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.568;SOR=0.856	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1294	18	0	1	0
chr10	116674897	116674897	C	T	exonic	HSPA12A	.	nonsynonymous SNV	HSPA12A:NM_025015:exon12:c.G1912A:p.A638T,HSPA12A:NM_001330164:exon13:c.G1963A:p.A655T	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0030	0.00339457	0.0049	0.0003	0.0020	0.0005	0.0336	0.0043	0.0100	0.0024	0.0044566	689	154602	rs41284376	0.0048	0.0048	0.0048	0.0048	0.0044	0.0047	0.0047	0.0043	0.0042	0.0005	0.0025	0.0015	5.038e-05	0.0286	0.0035	0.0044	0.0047	0.0024	0.0050	0.0050	0.0040	0.0061	0.0046	0.0047	0.0046	0.0042	0.0040	0.0006	0	0.0031	0.0014	0.0002	0.0328	0.0068	0.0046	0.0047	0.0027	0.637	0.05046	T	0.59	0.08217	T	0.0	0.02946	B	0.002	0.06944	B	0.147479	0.18079	N	0.615275	0.99994	0.19238	N	0.035	0.08059	N	0.99	0.41750	T	0.09	0.05917	N	0.014	0.00160	-1.0198	0.23780	T	0.028	0.11882	T	10	0.0039788485	0.00077	T	.	.	.	0.149	0.39377	.	.	0.143184338766	0.13958	0.11634287705498605	0.11562	0.422096880347	0.42711	0.28210157156	0.07788	T	0.068243	0.33408	T	-0.688817	0.00042	T	-0.759742	0.03121	T	0.00190642261958763	0.00019	T	0.727827	0.34232	T	0.052773494	0.09890	0.048195887	0.07109	0.052773494	0.09890	0.048195887	0.07108	-3.749	0.20044	T	.	.	0.064	0.01645	B	.;.	.;.	0.686556	0.10553	7.261	0.80151849276063514	0.13068	0.06335	0.12333	N	AEFBI	0.091554	0.18544	N	-1.08599041841247	0.06901	0.3190054	-1.03791046706906	0.08960	0.4432282	0.994258586573865	0.33555	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.02	-1.03	0.09586	0.040000	0.13791	-0.056000	0.12484	0.599000	0.40250	0.007000	0.17678	0.000000	0.08366	0.257000	0.23443	0.0:0.3231:0.366:0.311	5.918	0.18302	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.020202	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2653.33	33	chr10	116674897	.	C	T	2653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=838;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.167;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	116906663	116906663	G	A	exonic	SHTN1	.	nonsynonymous SNV	SHTN1:NM_001258298:exon14:c.C1264T:p.R422C,SHTN1:NM_001127211:exon15:c.C1444T:p.R482C,SHTN1:NM_001258299:exon15:c.C1444T:p.R482C,SHTN1:NM_001258300:exon16:c.C1264T:p.R422C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0235504019544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379531577	4.107e-06	5.472e-06	2.724e-06	5.504e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.599e-06	1.657e-05	0	6.573e-06	1.313e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.004803	0.33369	N	0.291572	1	0.81001	D	1.895	0.50365	L	.	.	.	-2.69	0.57435	D	0.812	0.80767	-0.4060	0.71837	T	0.323	0.69177	T	9	0.63331413	0.68640	D	0.02355	0.46515	T	0.298	0.61843	0.234	0.16305	0.232442253697	0.22838	0.27210299918533315	0.27123	1.45812495012	0.86292	0.740429341793	0.73036	T	0.236281	0.60372	T	0.263258	0.79828	D	0.140375	0.79568	D	0.984401524066925	0.75724	D	0.954105	0.83814	D	0.20573868	0.42725	0.15958706	0.37212	0.20573868	0.42725	0.15958706	0.37211	-8.95	0.70354	D	.	.	0.302	0.56311	B	.;.;.;.	.;.;.;.	5.797404	0.93598	33	0.99926503292456081	0.99103	0.96048	0.67297	D	AEFBI	0.758727	0.69728	D	0.618596889376606	0.74352	6.118006	0.59950949310989	0.74907	6.217285	0.967772774542259	0.29002	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	4.58	0.56077	6.887000	0.75425	11.834000	0.97615	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0764:0.0:0.9236:0.0	12.694	0.56360	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1659.33	33	chr10	116906663	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=750;ExcessHet=0;FS=1.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.15;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	18	0	1	0
chr10	117283947	117283947	T	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon5:c.A2786C:p.N929T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.036831061741	0.0052	0.000798722	0.0052	0.0013	0.0029	0	0.0064	0.0080	0.0055	6.056e-05	0.0052975	819	154602	rs140922572	0.0075	0.0075	0.0077	0.0073	0.0088	0.0074	0.0074	0.0087	0.0086	0.0015	0.0039	0.0043	5.038e-05	0.0085	0.0010	0.0088	0.0065	4.637e-05	0.0052	0.0052	0.0055	0.0049	0.0079	0.0049	0.0048	0.0073	0.0071	0.0015	0.0164	0.0047	0.0046	0.0002	0.0070	0.0034	0.0079	0.0043	0	0.284	0.15303	T	0.157	0.31730	T	0.132	0.27209	B	0.051	0.25434	B	0.001235	0.39743	N	0.275088	0.975465	0.25432	N	0.345	0.11182	N	-2.03	0.85613	D	-0.8	0.22078	N	0.08	0.05542	-0.7979	0.55268	T	0.278	0.64997	T	10	0.0036906898	0.00068	T	0.036831	0.57236	D	0.183	0.45592	.	.	0.465761423216	0.46202	0.45373068753569623	0.45291	0.223170420678	0.24844	0.439119488001	0.30456	T	0.007318	0.06733	T	-0.449038	0.01144	T	-0.404815	0.32825	T	0.00779006829084228	0.00091	T	0.718928	0.33194	T	0.04498551	0.07285	0.060124744	0.11399	0.04498551	0.07285	0.060124744	0.11398	-4.4	0.29557	T	.	.	0.084	0.09578	B	.	.	2.465473	0.31770	18.84	0.93624834729305562	0.23495	0.82750	0.41936	D	AEFBCI	0.153991	0.27894	N	-0.260158961341056	0.30700	1.714257	-0.0946376680620974	0.35611	2.062351	0.288647911704047	0.19063	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	3.17	0.35510	2.458000	0.44671	1.936000	0.29800	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0719:0.2414:0.6867	8.570	0.32722	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2617.33	47	chr10	117283947	.	T	G	2617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.552;DP=1299;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.103;SOR=0.744	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr10	117341050	117341050	C	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925C:p.E309Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.115356928521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.227	0.25362	T	0.361	0.33905	B	0.068	0.27651	B	0.100580	0.19880	N	0.530412	0.72942	0.33703	D	1.04	0.26193	L	-2.02	0.85542	D	-0.26	0.11185	N	0.307	0.34659	-0.2578	0.76147	T	0.382	0.73862	T	10	0.1287536	0.24493	T	0.115357	0.79451	D	0.219	0.51417	0.262	0.20631	0.41089407703	0.40707	0.32572278031787566	0.32485	0.733746948318	0.62856	0.471481502056	0.34884	T	0.004072	0.03483	T	-0.0192899	0.48954	T	-0.265485	0.48274	T	0.299490293607814	0.24983	T	0.535046	0.17917	T	0.10697685	0.25296	0.07411807	0.16179	0.10697685	0.25296	0.07411807	0.16178	-4.109	0.25423	T	.	.	0.137	0.29833	B	.	.	2.687011	0.35067	19.80	0.99215066277239283	0.55716	0.83537	0.42647	D	AEFBI	0.436196	0.49651	N	0.0261702783483278	0.43048	2.605428	0.215140493430459	0.50686	3.258188	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	G	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:54,0:54:0:.:.:0,0,1232:.	13	0	4	2
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	T	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:54,0:54:0:.:.:0,0,1232:.	13	0	4	2
chr10	119030300	119030300	-	CCGCCG	exonic	NANOS1	.	nonframeshift insertion	NANOS1:NM_199461:exon1:c.499_500insCCGCCG:p.A173_T174insAA	Spermatogenic failure 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	701208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs538539239	0.0006	0.0005	0.0006	0.0006	0.0155	0.0005	0.0005	0.0141	0.0135	0.0155	0.0003	0	0.0002	0	0.0020	6.753e-05	0.0017	0.0071	0.0040	0.0040	0.0042	0.0038	0.0127	0.0037	0.0036	0.0118	0.0114	0.0127	0	0.0007	0	0	0	0	0.0003	0.0010	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	145.37	17	chr10	119030300	.	C	CCCGCCG	145.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.77;ReadPosRankSum=0.484;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:93:0,93,1395	18	0	1	0
chr10	119037244	119037244	C	T	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon21:c.G3794A:p.R1265Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00850693799295	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174804378	1.026e-05	1.026e-05	1.225e-05	8.25e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	8.093e-06	3.311e-05	1.159e-05	1.315e-05	1.313e-05	0	2.693e-05	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.203	0.27325	T	0.994	0.66517	D	0.921	0.65636	D	0.001651	0.38382	N	0.000000	0.995144	0.42562	D	0.63	0.15941	N	1.53	0.30401	T	-0.55	0.16799	N	0.543	0.57006	-1.0864	0.06155	T	0.126	0.43112	T	10	0.2568922	0.43099	T	0.008507	0.22507	T	0.160	0.41473	0.347	0.34274	0.372491666437	0.36864	0.07149881157349686	0.07086	0.567273716107	0.52994	0.55076611042	0.45965	T	0.01653	0.13648	T	-0.151997	0.27999	T	-0.359255	0.38138	T	0.513543546199799	0.33127	D	0.884911	0.60954	D	0.08423729	0.19489	0.06882108	0.14421	0.08423729	0.19489	0.06882108	0.14420	-7.326	0.56380	T	.	.	0.147	0.32445	B	.;.	.;.	3.771797	0.54182	23.5	0.99857827495488261	0.93639	0.92661	0.56239	D	AEFDBHCI	0.690162	0.65058	D	0.492226041116101	0.66633	4.975671	0.511672402719298	0.68774	5.266747	0.999999999851708	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	4.548000	0.60429	7.656000	0.63963	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	17.606	0.87939	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1564.33	43	chr10	119037244	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.21;DP=891;ExcessHet=0;FS=1.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.588;SOR=0.844	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr10	119050586	119050586	C	T	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon16:c.G2408A:p.R803K	.	437	1078	7	0	0	7	0.00323625	.	.	.	712190	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0028	0.0225639	0.0090	0.0086	0.0004	0.0572	0	0.0001	0.0055	0.0299	0.0082793	1280	154602	rs77382849	0.0037	0.0037	0.0031	0.0043	0.0581	0.0036	0.0036	0.0561	0.0553	0.0092	0.0003	0.0005	0.0581	0	0.0017	8.364e-05	0.0058	0.0272	0.0054	0.0055	0.0046	0.0063	0.0659	0.0051	0.0050	0.0602	0.0579	0.0072	0	0.0008	0.0009	0.0659	0	0	0.0001	0.0052	0.0315	0.428	0.36509	T	0.182	0.29249	T	0.956	0.54666	P	0.931	0.66596	D	0.049448	0.23159	N	0.187382	0.999963	0.52935	D	1.445	0.36358	L	4.37	0.27822	T	-1.49	0.36385	N	0.229	0.25745	-0.8825	0.49561	T	0.002	0.00646	T	10	0.0031330884	0.00052	T	.	.	.	0.113	0.31778	.	.	0.316310170894	0.31242	0.42220216578160685	0.42136	0.496559253354	0.48160	0.557454943657	0.46908	T	0.027063	0.19900	T	-0.552525	0.00282	T	-0.508089	0.21512	T	0.0439077785561532	0.04404	T	0.780122	0.41468	T	0.0883745	0.20612	0.08877662	0.20720	0.0883745	0.20612	0.08877662	0.20719	-5.731	0.43968	T	.	.	0.622	0.69763	P	.;.	.;.	3.459697	0.48218	22.6	0.96280735405224127	0.29279	0.89815	0.50527	D	AEFBCI	0.673338	0.63943	D	0.494992987700398	0.66796	4.996791	0.486257133065782	0.67079	5.036209	0.999999989792603	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	4.66	0.57857	5.510000	0.66737	5.940000	0.51464	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.9216:0.0:0.0783	13.182	0.59084	448	0.79501	.;.	.	.	.	.	rs77382849	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.018939	0.02632	2052.33	35	chr10	119050586	.	C	T	2052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=791;ExcessHet=0;FS=2.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.913;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	18	0	1	0
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C,PRDX3:NM_006793:exon5:c.G517T:p.G173C	.	431	1078	13	0	0	13	0.00599355	.	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.100000	0.008621	0.006098	0.011364	0.05263	2760.83	33	chr10	119172416	.	C	A	2760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.244;DP=838;ExcessHet=0.119;FS=4.294;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.713;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	17	0	2	0
chr10	119178778	119178778	C	T	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon1:c.G13A:p.V5I,PRDX3:NM_006793:exon1:c.G13A:p.V5I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00399361	0.0041	0	0.0029	0	0	0	0	0.0085	0.0007827	121	154602	rs369293519	0.0006	0.0006	0.0004	0.0009	0.0090	0.0006	0.0006	0.0084	0.0082	0	0.0002	0	2.788e-05	0	0	0.0001	0.0007	0.0090	0.0004	0.0004	0.0003	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	6.532e-05	0	0	0	0	0.0001	0	0.0110	0.677	0.04469	T	0.833	0.03685	T	0.0	0.02946	B	0.003	0.08700	B	0.666483	0.06010	N	1.151630	1	0.08975	N	1.19	0.30124	L	2.79	0.11189	T	-0.05	0.07736	N	0.215	0.24010	-0.9619	0.38819	T	0.014	0.05513	T	10	0.004670471	0.00098	T	.	.	.	0.029	0.06676	.	.	0.173771789658	0.16945	0.17397300375979538	0.17317	0.0589115962734	0.06543	0.344560861588	0.17117	T	0.07157	0.34241	T	-0.601079	0.00144	T	-0.629787	0.10431	T	0.00890234122628818	0.00111	T	0.585741	0.21356	T	0.0288537	0.02288	0.03904609	0.03907	0.0288537	0.02288	0.03904609	0.03907	-5.675	0.43470	T	.	.	0.107	0.20117	B	.	.	0.840203	0.12120	8.670	0.77499137707934984	0.11901	0.00864	0.03432	N	ALL	0.257648	0.37634	N	-1.09485314755697	0.06737	0.3110086	-1.04281710503106	0.08857	0.4375761	0.999999999999854	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	2.16	0.26663	0.042000	0.13834	-0.904000	0.06980	-0.229000	0.07765	0.001000	0.13787	0.000000	0.08366	0.095000	0.18041	0.3252:0.4296:0.1571:0.0881	2.950	0.05500	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	616.33	34	chr10	119178778	.	C	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=707;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.816;SOR=0.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	18	0	1	0
chr10	119423247	119423247	C	A	exonic	GRK5	.	nonsynonymous SNV	GRK5:NM_005308:exon5:c.C421A:p.L141I	.	.	.	.	.	.	.	.	.	.	.	712192	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0046	0.00479233	0.0014	0.0150	0.0007	0	0	2.998e-05	0	0	0.0012548	194	154602	rs56254855	0.0004	0.0004	0.0005	0.0004	0.0153	0.0004	0.0004	0.0142	0.0138	0.0153	0.0004	0	0	0	0.0009	3.418e-05	0.0008	4.638e-05	0.0042	0.0042	0.0045	0.0038	0.0147	0.0039	0.0038	0.0138	0.0134	0.0147	0	0.0008	0	0	0	0	1.47e-05	0.0033	0	0.229	0.18371	T	0.168	0.30631	T	0.001	0.07471	B	0.026	0.20792	B	0.025738	0.26038	N	0.262962	0.994186	0.42191	D	1.31	0.32734	L	4.36	0.02298	T	-0.16	0.09460	N	0.29	0.32812	-0.8883	0.49080	T	0.004	0.01470	T	10	0.012267351	0.00264	T	.	.	.	0.029	0.06676	.	.	0.265735104816	0.26182	0.2002390348620072	0.19940	0.883292400832	0.69847	0.520106554031	0.41641	T	0.091037	0.38712	T	-0.582764	0.00185	T	-0.597553	0.13017	T	0.00869495840589022	0.00107	T	0.873013	0.58094	D	0.15350595	0.34792	0.11044622	0.26632	0.15350595	0.34792	0.11044622	0.26631	-5.461	0.41502	T	.	.	0.085	0.10159	B	.	.	1.609619	0.20572	14.81	0.965897378327224	0.30365	0.94274	0.60646	D	AEFDBI	0.291521	0.40263	N	-0.448393682276923	0.23795	1.28033	-0.36539700542213	0.26036	1.435631	0.999999297429617	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.67347	0.61138	0	0.727631	0.95156	0	.	.	4.71	2.79	0.31792	1.449000	0.34734	1.392000	0.26124	0.599000	0.40250	0.993000	0.37899	0.871000	0.27593	0.803000	0.37862	0.0:0.7218:0.2782:0.0	14.590	0.67954	964	0.07719	RGS domain|RGS domain|RGS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	967.33	34	chr10	119423247	.	C	A	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.021;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr10	119670007	119670007	G	A	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.G337A:p.V113I	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	397399	Dilated_cardiomyopathy_1HH|Cardiovascular_phenotype|Myofibrillar_myopathy_6|not_specified	MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.104	0.0193910934846	.	.	3.298e-05	0	0	0	0	6.003e-05	0	0	2.59e-05	4	154602	rs781093275	1.368e-05	1.368e-05	9.528e-06	1.788e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.259e-05	1.656e-05	2.319e-05	1.969e-05	1.969e-05	2.57e-05	1.342e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.039	0.51112	D	0.039	0.21116	B	0.016	0.17743	B	0.033121	0.24940	N	0.477459	1	0.08975	N	1.1	0.28011	L	-0.77	0.73739	T	-0.37	0.13226	N	0.115	0.10340	-0.8618	0.51133	T	0.239	0.60679	T	10	0.106381774	0.19709	T	0.019391	0.41739	T	0.104	0.29647	0.289	0.24921	0.725845606683	0.72341	0.21779596080686475	0.21695	0.101249323043	0.11452	0.347391277552	0.17538	T	0.101615	0.40853	T	-0.229966	0.16653	T	-0.437656	0.29072	T	0.125065848231316	0.14918	T	0.644736	0.27667	T	0.055855006	0.10912	0.075352594	0.16579	0.055855006	0.10912	0.075352594	0.16579	-4.506	0.30967	T	0.14752158351094835	0.17102	0.077	0.16451	B	.;.	.;.	1.263330	0.16614	12.65	0.99420966150860546	0.63790	0.26810	0.23099	N	AEFBCI	0.153135	0.27795	N	-0.576982431136245	0.19645	1.029786	-0.505954441822678	0.21991	1.192288	0.999968508982123	0.48965	0.833774	0.99917	0	0.653731	0.59785	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.49	4.52	0.54797	0.408000	0.20787	1.075000	0.23839	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.279000	0.23992	0.0:0.0:0.8015:0.1985	15.505	0.75464	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	33	chr10	119670007	.	G	A	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.29;SOR=0.748	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr10	119796747	119796747	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon7:c.G702A:p.M234I	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0076	0.00319489	0.0062	0.0019	0.0041	0.0001	0.0042	0.0095	0.0077	0.0009	0.0062871	972	154602	rs34239637	0.0082	0.0083	0.0084	0.0080	0.0098	0.0081	0.0081	0.0096	0.0095	0.0014	0.0049	0.0043	0	0.0036	0.0043	0.0098	0.0079	0.0012	0.0064	0.0064	0.0069	0.0058	0.0103	0.0060	0.0059	0.0097	0.0094	0.0019	0.0055	0.0086	0.0046	0	0.0017	0.0136	0.0103	0.0062	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001898	0.37740	N	0.316403	0.502122	0.31750	D	-1.86	0.00260	N	0.61	0.53516	T	2.06	0.00379	N	0.247	0.27910	-0.9588	0.39405	T	0.011	0.04321	T	10	0.005298704	0.00116	T	.	.	.	0.074	0.21613	0.435	0.48664	0.0986583533028	0.09354	0.24951003347931272	0.24865	0.140751882377	0.15877	0.473517119884	0.35165	T	0.140908	0.47570	T	-0.638141	0.00085	T	-0.679034	0.07043	T	0.000663455303258933	0.00006	T	0.808019	0.56350	T	0.043542735	0.06805	0.0601865	0.11420	0.043542735	0.06805	0.0601865	0.11419	0.555	0.00202	T	.	.	0.099	0.16494	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.054691	0.04672	1.321	0.65318453901849693	0.07739	0.68304	0.33751	D	AEFDBI	0.076075	0.15296	N	-1.15945336700963	0.05626	0.2569728	-0.888584798854169	0.12364	0.635556	6.53460180504768E-4	0.07551	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.8	-0.228	0.12452	0.015000	0.13250	-1.643000	0.05000	-0.140000	0.12423	0.929000	0.32243	0.000000	0.08366	0.995000	0.73285	0.0:0.6238:0.1517:0.2245	7.779	0.28216	454	0.79125	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	rs34239637	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.008152	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1163.33	40	chr10	119796747	.	G	A	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.218;DP=733;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.545;SOR=1.03	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1338	18	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	179.35	180	chr10	119898750	.	C	G	179.35	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.428;DP=2753;ExcessHet=0.3672;FS=259.479;InbreedingCoeff=-0.3586;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.328;SOR=10.048	GT:AD:DP:GQ:PL	./.:169,0:169:0:0,0,4194	2	0	3	14
chr10	120354721	120354721	G	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.C463T:p.P155S	Hypotrichosis 12, Autosomal dominant	336	1183	1	2	0	5	0.00210881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001358	21	154602	rs879592877	0.0022	0.0020	0.0023	0.0021	0.0057	0.0021	0.0020	0.0036	0.0030	0.0006	0.0005	0.0002	0	0.0008	0.0057	0.0032	0.0022	0.0001	0.0020	0.0020	0.0020	0.0020	0.0037	0.0018	0.0018	0.0033	0.0032	0.0007	0	0.0012	0	0	0.0003	0.0034	0.0037	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	96.35	8	chr10	120354721	.	G	A	96.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0282;MLEAC=1;MLEAF=0.026;MQ=48.22;MQRankSum=-1.242;QD=12.04;ReadPosRankSum=-0.545;SOR=1.609	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,553	18	0	1	0
chr10	120354787	120354787	C	T	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.G397A:p.A133T	Hypotrichosis 12, Autosomal dominant	206	1293	23	0	0	23	0.00881564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878964433	0.0012	0.0043	0.0012	0.0012	0.0017	0.0011	0.0011	0.0014	0.0013	0.0017	0.0008	0.0004	0.0017	0.0012	0.0012	0.0013	0.0010	0.0008	9.556e-05	0.0010	7.986e-05	0.0001	0.0002	5.734e-05	4.626e-05	0.0001	7.438e-05	0.0002	0	6.76e-05	0	0.0002	0.0003	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	48.58	14	chr10	120354787	.	C	T	48.58	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=314;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.0385;MLEAC=1;MLEAF=0.026;MQ=37.9;MQRankSum=2.35;QD=2.21;ReadPosRankSum=-0.512;SOR=0.368	GT:AD:DP:GQ:PL	0/0:15,2:17:2:0,2,393	18	0	1	0
chr10	120866640	120866640	G	A	exonic	WDR11	.	nonsynonymous SNV	WDR11:NM_018117:exon8:c.G1066A:p.V356I	Hypogonadotropic hypogonadism 14 with or without anosmia, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	684133	WDR11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.422	0.0567128637389	0.0019	0.000399361	0.0018	0.0004	0.0003	0.0003	0.0005	0.0029	0.0011	0.0003	0.0017594	272	154602	rs34304988	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0031	0.0002	0.0004	0.0003	0.0002	0.0009	0.0002	0.0032	0.0020	0.0003	0.0015	0.0015	0.0018	0.0012	0.0029	0.0014	0.0013	0.0026	0.0025	0.0002	0	0.0010	0	0.0002	0.0007	0	0.0029	0.0014	0.0002	0.551	0.06564	T	0.441	0.17640	T	0.997	0.70673	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-2.68	0.90391	D	0.05	0.06369	N	0.406	0.44666	0.397	0.89048	D	0.775	0.92353	D	10	0.01970011	0.00443	T	0.056713	0.66705	D	0.422	0.73078	.	.	0.652543851182	0.64965	0.2692501366017764	0.26838	0.25021508411	0.27598	0.684484243393	0.64913	T	0.062811	0.32013	T	-0.195575	0.21444	T	-0.0527526	0.66834	D	0.036999293960702	0.03156	T	0.928707	0.73770	D	0.07690457	0.17421	0.09259459	0.21830	0.07690457	0.17421	0.09259459	0.21830	-5.781	0.44408	T	.	.	0.132	0.46320	B	.;.	.;.	3.372451	0.46612	22.3	0.99565201131771974	0.72014	0.98526	0.83723	D	AEFDGBI	0.862565	0.78088	D	0.622741898530755	0.74613	6.162883	0.6469181282825	0.78382	6.864954	0.999999997659742	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.726000	0.83783	9.982000	0.82930	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.0:1.0:0.0	19.298	0.94118	616	0.66398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1675.33	34	chr10	120866640	.	G	A	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=883;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.578;SOR=0.591	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr10	121899882	121899882	G	C	exonic	ATE1	.	nonsynonymous SNV	ATE1:NM_001288734:exon6:c.C581G:p.T194R,ATE1:NM_001001976:exon7:c.C926G:p.T309R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00543411505215	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	.	2.741e-06	2.736e-06	2.728e-06	2.756e-06	5.981e-05	6.4e-07	4.3e-07	9.91e-06	3.7e-06	5.981e-05	0	0	0	0	0	1.801e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.038	0.42783	D	0.153	0.32675	T	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.345	0.03330	N	.	.	.	1.74	0.00737	N	0.253	0.29544	-1.0181	0.24334	T	0.045	0.19194	T	8	0.12172806	0.23081	T	0.005434	0.13954	T	0.061	0.17616	0.463	0.53242	0.165150595986	0.16160	0.24505906988835796	0.24419	.	.	0.320894896984	0.13558	T	0.066007	0.32834	T	-0.106382	0.35367	T	-0.390587	0.34483	T	0.167603313922882	0.18416	T	0.905509	0.66687	D	0.04710352	0.07995	0.080517456	0.18220	0.04710352	0.07994	0.080517456	0.18219	-1.724	0.02293	T	.	.	0.076	0.05935	B	.;.	.;.	2.686175	0.35051	19.80	0.92774479481960614	0.22289	0.89031	0.49258	D	AEFDGBIJ	0.208904	0.33495	N	-0.331839279014664	0.27945	1.53733	-0.189845790511206	0.31908	1.810264	0.992824657661839	0.32982	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.17	3.87	0.43823	4.268000	0.58681	4.304000	0.42949	-1.595000	0.00900	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.1145:0.0:0.1288:0.7566	9.771	0.39759	934	0.15400	N-end rule aminoacyl transferase, C-terminal;N-end rule aminoacyl transferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	532.33	33	chr10	121899882	.	G	C	532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.02;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	18	0	1	0
chr10	121961464	121961464	G	A	exonic	NSMCE4A	.	nonsynonymous SNV	NSMCE4A:NM_001167865:exon7:c.C898T:p.R300C,NSMCE4A:NM_017615:exon7:c.C898T:p.R300C	.	.	.	.	.	.	.	.	.	.	.	2731968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.0990491514333	.	.	4.26e-05	0.0001	9.035e-05	0.0001	0	0	0.0012	6.382e-05	3.23e-05	5	154602	rs201293057	2.456e-05	2.599e-05	2.794e-05	2.116e-05	0.0002	1.784e-05	1.578e-05	8.616e-05	6.088e-05	0	9.255e-05	0	0.0002	0	0	2.087e-05	1.701e-05	1.259e-05	9.85e-05	9.843e-05	0.0001	8.058e-05	0.0008	6.003e-05	4.877e-05	0.0005	0.0004	0	0	0.0008	0	0.0004	0	0	1.47e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.8	0.48769	T	-5.73	0.87611	D	0.862	0.85872	-0.4555	0.70218	T	0.304	0.67519	T	10	0.8614664	0.85368	D	0.099049	0.77043	D	0.492	0.77847	.	.	0.763362891706	0.76120	0.8170267025591237	0.81658	1.04943173481	0.76094	0.710285305977	0.68635	T	0.29385	0.66654	T	0.0975494	0.64026	D	0.18706	0.82400	D	0.819185325091136	0.47712	D	0.974603	0.90967	D	0.54848284	0.69871	0.48636293	0.70272	0.54848284	0.69872	0.48636293	0.70273	-11.341	0.81495	D	.	.	0.355	0.56914	A	.	.	5.954375	0.94172	33	0.99919196733606896	0.98654	0.93116	0.57369	D	AEFDBI	0.768744	0.70421	D	0.853564116731116	0.89311	9.919658	0.826708149694281	0.91586	10.96217	0.104064585243046	0.16464	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	5.62	5.62	0.85714	6.270000	0.72545	9.898000	0.82326	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.846:0.154	13.741	0.62331	936	0.14734	Non-structural maintenance of chromosome element 4, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	452.33	36	chr10	121961464	.	G	A	452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.197;DP=693;ExcessHet=0;FS=5.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=-0.501;SOR=0.799	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1097	18	0	1	0
chr10	122083955	122083955	C	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C1455A:p.D485E,TACC2:NM_001291877:exon4:c.C1455A:p.D485E,TACC2:NM_206862:exon4:c.C1455A:p.D485E	.	415	1056	46	5	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0022	0.00299521	0.0037	0.0007	0.0031	0.0001	0.0003	0.0034	0.0055	0.0104	0.0034864	539	154602	rs145676536	0.0033	0.0033	0.0030	0.0036	0.0120	0.0033	0.0032	0.0097	0.0090	0.0004	0.0028	0.0007	7.557e-05	0.0005	0.0120	0.0032	0.0033	0.0098	0.0025	0.0025	0.0023	0.0026	0.0110	0.0023	0.0022	0.0087	0.0078	0.0007	0	0.0020	0.0003	0.0002	0.0005	0.0068	0.0035	0.0057	0.0110	0.008	0.58626	D	0.126	0.35205	T	0.002	0.09854	B	0.002	0.06944	B	0.262279	0.15291	N	0.547859	1	0.08975	N	0.345	0.11182	N	4.17	0.02815	T	-0.1	0.08495	N	0.031	0.02366	-0.9281	0.44415	T	0.004	0.01192	T	10	0.0039937794	0.00077	T	.	.	.	0.089	0.25827	0.104	0.01698	0.458734620958	0.45498	0.030146240398800345	0.02963	0.0937766726545	0.10591	0.249824970961	0.03749	T	0.015022	0.12680	T	-0.725202	0.00026	T	-0.807087	0.01731	T	0.00369449383288313	0.00039	T	0.534247	0.17838	T	0.067040615	0.14481	0.0355286	0.02821	0.067040615	0.14480	0.0355286	0.02820	-2.931	0.09457	T	.	.	0.182	0.39545	B	.;.;.;.;.	.;.;.;.;.	0.702582	0.10711	7.406	0.93754106037824991	0.23697	0.12649	0.17397	N	AEFDBI	.	.	.	-0.892877548156124	0.11010	0.529115	-0.868507421659128	0.12844	0.6630197	0.614784024267148	0.21834	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.13	2.09	0.26154	-0.185000	0.09679	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1566:0.5969:0.1531:0.0934	4.328	0.10488	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.005435	0.008772	0.000000	0.000000	0.009146	0.041667	0.07895	8027.77	82	chr10	122083955	.	C	A	8027.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.64;DP=1342;ExcessHet=0;FS=3.038;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.239;SOR=0.866	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	17	1	1	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.05263	2674.83	33	chr10	122216727	.	C	T	2674.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.151;SOR=0.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	2	0
chr10	122216732	122216732	A	G	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.A1684G:p.M562V,TACC2:NM_206860:exon5:c.A1684G:p.M562V,TACC2:NM_001291878:exon6:c.A1720G:p.M574V,TACC2:NM_001291879:exon7:c.A562G:p.M188V,TACC2:NM_206861:exon8:c.A1888G:p.M630V,TACC2:NM_001291876:exon10:c.A7315G:p.M2439V,TACC2:NM_001291877:exon10:c.A7462G:p.M2488V,TACC2:NM_206862:exon11:c.A7450G:p.M2484V	.	430	1090	2	0	0	2	0.00091659	.	.	.	2347937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00284759216417	0.0004	0.000199681	0.0001	0.0007	0.0002	0	0	8.991e-05	0	0	0.0001229	19	154602	rs150404273	0.0001	0.0001	0.0001	9.213e-05	0.0010	8.847e-05	8.333e-05	0.0005	0.0003	0.0004	0.0002	0	0	0	0.0010	8.813e-05	0.0003	0	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0.0034	7.352e-05	0	0	0.194	0.36709	T	0.485	0.32568	T	0.025	0.19245	B	0.012	0.18140	B	0.022705	0.26581	N	0.185159	0.650194	0.32956	D	1.21	0.30464	L	3.99	0.18414	T	-1.49	0.61580	N	0.207	0.37405	-1.0534	0.13466	T	0.035	0.15247	T	10	0.04963982	0.04581	T	0.002848	0.05986	T	0.051	0.14325	.	.	0.544477446313	0.54102	0.17530261090826224	0.17449	0.123788176146	0.13936	0.458127886057	0.33053	T	0.042242	0.40566	T	-0.464178	0.00925	T	-0.540373	0.18259	T	0.0160882683915138	0.00387	T	0.858914	0.55989	D	0.051621813	0.09506	0.09755333	0.23226	0.051621813	0.09506	0.09755333	0.23225	-2.333	0.11621	T	.	.	0.064	0.02765	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.658415	0.21151	15.07	0.94650338719396443	0.25256	0.96954	0.71854	D	AEFDBI	0.686070	0.64786	D	-0.168209349623899	0.34464	1.967376	-0.0174017237604829	0.38929	2.300643	0.999974110867686	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	3.29	0.36801	5.729000	0.68186	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.8493:0.0:0.1507:0.0	9.267	0.36810	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1525.33	33	chr10	122216732	.	A	G	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.196;DP=796;ExcessHet=0;FS=2.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.155;SOR=0.96	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr10	122415881	122415881	G	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon5:c.G347T:p.G116V,PLEKHA1:NM_001377253:exon6:c.G347T:p.G116V,PLEKHA1:NM_001377255:exon6:c.G347T:p.G116V,PLEKHA1:NM_001377257:exon6:c.G347T:p.G116V,PLEKHA1:NM_001001974:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377237:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377241:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377245:exon7:c.G491T:p.G164V,PLEKHA1:NM_001377250:exon7:c.G482T:p.G161V,PLEKHA1:NM_001377254:exon7:c.G347T:p.G116V,PLEKHA1:NM_001377258:exon7:c.G491T:p.G164V,PLEKHA1:NM_001195608:exon8:c.G491T:p.G164V,PLEKHA1:NM_001330178:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377230:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377235:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377238:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377240:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377244:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377246:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377247:exon8:c.G458T:p.G153V,PLEKHA1:NM_001377248:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377249:exon8:c.G431T:p.G144V,PLEKHA1:NM_001377251:exon8:c.G458T:p.G153V,PLEKHA1:NM_001377256:exon8:c.G365T:p.G122V,PLEKHA1:NM_021622:exon8:c.G491T:p.G164V,PLEKHA1:NM_001377232:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377234:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377242:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377243:exon9:c.G491T:p.G164V,PLEKHA1:NM_001377231:exon10:c.G491T:p.G164V	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00457453007992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.55530	D	0.131	0.34596	T	0.009	0.15093	B	0.004	0.10090	B	0.002833	0.35868	N	0.328921	0.999997	0.58761	D	0	0.06538	N	3.39	0.06681	T	-2.19	0.53898	N	0.353	0.40364	-1.0868	0.06084	T	0.037	0.15899	T	10	0.166976	0.31166	T	0.004575	0.11283	T	0.055	0.15663	0.325	0.30711	0.3349148499	0.33108	0.20879643830371372	0.20795	0.580106300526	0.53867	0.403824061155	0.25600	T	0.568022	0.85651	D	-0.138996	0.30051	T	-0.437434	0.29097	T	0.418695428009766	0.29642	T	0.89491	0.63503	D	0.24478781	0.47431	0.25810543	0.51538	0.24478781	0.47431	0.25810543	0.51537	-4.647	0.33453	T	.	.	0.083	0.11172	B	.;.;.;.;.	.;.;.;.;.	2.938025	0.39058	20.9	0.96960703087339106	0.31775	0.96652	0.70223	D	AEFBI	0.451285	0.50533	N	-0.124723651600792	0.36319	2.097657	0.0433247332069766	0.41750	2.513533	0.978967121053582	0.29977	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	3.89	0.44098	2.550000	0.45472	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3824:0.6175:0.0	15.732	0.77582	939	0.14249	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	707.33	33	chr10	122415881	.	G	T	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.82;DP=676;ExcessHet=0;FS=4.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.36;SOR=0.313	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	18	0	1	0
chr10	122589187	122589187	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_017579:exon16:c.C1997T:p.S666F,DMBT1:NM_001320644:exon17:c.C2027T:p.S676F,DMBT1:NM_001377530:exon17:c.C2027T:p.S676F,DMBT1:NM_007329:exon17:c.C2027T:p.S676F	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0003	0.00339457	0.0016	0	0.0008	0.0002	0	0.0006	0.0011	0.0084	0.0014101	218	154602	rs202084523	0.0010	0.0010	0.0007	0.0013	0.0092	0.0009	0.0009	0.0087	0.0085	5.986e-05	0.0007	0.0002	5.276e-05	7.812e-05	0.0051	0.0005	0.0010	0.0092	0.0007	0.0007	0.0004	0.0010	0.0089	0.0006	0.0005	0.0067	0.0059	9.697e-05	0	0.0007	0.0003	0	0.0001	0.0068	0.0006	0	0.0089	0.152	0.24468	T	0.009	0.67890	D	0.996	0.68779	D	0.891	0.63213	P	0.906653	0.07389	N	1.054520	1	0.24867	N	2.88	0.83451	M	0.88	0.46028	T	-2.51	0.54546	D	0.346	0.40164	-0.7880	0.55846	T	0.309	0.67940	T	10	0.0075699687	0.00172	T	.	.	.	0.148	0.39182	.	.	0.630964554901	0.62794	0.4149988957007464	0.41415	0.0555837444901	0.06145	0.631226539612	0.57320	T	0.239083	0.60712	T	-0.490901	0.00642	T	-0.570658	0.15389	T	0.0520169390980536	0.05849	T	0.464354	0.13557	T	0.07848272	0.17874	0.122132696	0.29462	0.07848272	0.17874	0.122132696	0.29461	-10.417	0.76386	D	.	.	0.340	0.63965	B	.;.;.;.;.	.;.;.;.;.	1.657583	0.21145	15.07	0.9801003614533863	0.37544	0.16642	0.19483	N	AEFGBI	0.173271	0.30035	N	-0.133205203442575	0.35952	2.071676	-0.402320707232909	0.24929	1.367945	0.999819169485465	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	2.09	0.26154	-0.512000	0.06397	.	.	0.430000	0.20916	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3025:0.6975:0.0:0.0	12.43	0.54905	809	0.43032	.;.;.;SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005584	0.000000	0.004098	0.002959	0.000000	0.017241	0.006173	0.015267	0.02632	3333.33	35	chr10	122589187	.	C	T	3333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.494;DP=889;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=15.02;ReadPosRankSum=0.613;SOR=0.852	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1428	18	0	1	0
chr10	122637181	122637181	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon38:c.C4540A:p.Q1514K,DMBT1:NM_017579:exon50:c.C6394A:p.Q2132K,DMBT1:NM_001320644:exon51:c.C6421A:p.Q2141K,DMBT1:NM_007329:exon51:c.C6424A:p.Q2142K,DMBT1:NM_001377530:exon54:c.C6811A:p.Q2271K	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	.	0.00499201	0.0032	0.0001	0.0004	0.0001	0	1.499e-05	0.0033	0.0231	0.0028072	434	154602	rs543589037	0.0014	0.0014	0.0008	0.0020	0.0223	0.0013	0.0013	0.0214	0.0211	8.961e-05	0	0	0	0	0.0005	1.349e-05	0.0012	0.0223	0.0008	0.0008	0.0004	0.0012	0.0249	0.0007	0.0006	0.0212	0.0199	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0249	0.054	0.47745	T	0.183	0.29740	T	0.775	0.45403	P	0.225	0.42203	B	0.055431	0.22643	U	0.216309	0.844098	0.28589	N	1.67	0.42885	L	-1.57	0.81900	D	-1.83	0.46673	N	0.287	0.35301	-0.1895	0.77940	T	0.439	0.77796	T	10	0.005826175	0.00130	T	.	.	.	0.282	0.59981	.	.	0.847530603234	0.84606	0.21228382884223634	0.21144	0.334990745553	0.35507	0.282208532095	0.07802	T	0.151881	0.49203	T	-0.397485	0.02405	T	-0.32748	0.41748	T	0.0307138533372576	0.02100	T	0.706229	0.31676	T	0.17294754	0.38015	0.17847337	0.40518	0.17294754	0.38014	0.17847337	0.40517	-9.379	0.70104	D	.	.	0.166	0.43640	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.595446	0.33679	19.41	0.9678928379493168	0.31105	0.22640	0.21814	N	AEFDBHCI	0.093722	0.18959	N	-0.0455109477000612	0.39803	2.353221	-0.0275343976084883	0.38477	2.267411	0.978743176698853	0.29954	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.889000	0.39352	.	.	0.599000	0.40250	0.085000	0.22462	0.019000	0.20708	0.588000	0.31090	0.1579:0.842:0.0:0.0	13.385	0.60237	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.05263	2703.83	35	chr10	122637181	.	C	A	2703.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=828;ExcessHet=0.119;FS=1.574;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.455;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	17	0	2	0
chr10	122678954	122678955	CC	-	exonic	LOC112577516	.	stopgain	LOC112577516:NM_001364461:exon4:c.320_321del:p.S107*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	65.51	.	chr10	122678953	.	TCC	T	65.51	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.967;SOR=0.446	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	0	1	11
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:60,24:105:99:111,0,914	6	0	12	1
chr10	123780235	123780235	G	A	exonic	CPXM2	.	nonsynonymous SNV	CPXM2:NM_198148:exon7:c.C910T:p.R304C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.164698110209	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.057e-05	1.94e-05	3	154602	rs145723018	1.787e-05	2.121e-05	2.326e-05	1.242e-05	6e-05	1.243e-05	1.056e-05	1.22e-05	1.035e-05	6e-05	2.237e-05	0	0	0	0	1.899e-05	1.662e-05	1.161e-05	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.011	0.55530	D	0.047	0.48855	D	0.999	0.77913	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	1.87	0.49600	L	-3.98	0.96277	D	-2.58	0.55662	D	0.815	0.81063	0.790	0.94292	D	0.867	0.95586	D	10	0.8254254	0.81725	D	0.164698	0.84374	D	0.737	0.90852	.	.	0.975055352076	0.97478	0.7785256444066065	0.77802	0.841245219512	0.68085	0.779717743397	0.78884	T	0.02382	0.18113	T	0.345476	0.86202	D	0.35533	0.90524	D	0.823466181755066	0.48031	D	0.952305	0.81786	D	0.26384568	0.49450	0.20774129	0.45046	0.26384568	0.49450	0.20774129	0.45045	-15.421	0.96761	D	.	.	0.737	0.74497	P	.	.	5.083743	0.84853	28.4	0.99915247656383721	0.98379	0.94587	0.61652	D	AEFDBI	0.744057	0.68716	D	0.280728204630056	0.55173	3.681498	0.213327020152539	0.50586	3.249108	0.490473968236887	0.20858	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.564101	0.26826	0	.	.	4.62	2.48	0.29194	3.045000	0.49528	5.884000	0.50679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:0.0:0.4963:0.5037	11.692	0.50785	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1679.33	36	chr10	123780235	.	G	A	1679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=741;ExcessHet=0;FS=4.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-1.282;SOR=1.129	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1256	18	0	1	0
chr10	124484276	124484276	G	T	exonic	LHPP	.	nonsynonymous SNV	LHPP:NM_001167880:exon2:c.G263T:p.C88F,LHPP:NM_001318331:exon2:c.G263T:p.C88F,LHPP:NM_001318332:exon2:c.G263T:p.C88F,LHPP:NM_022126:exon2:c.G263T:p.C88F	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0116148384828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.25154	T	0.215	0.39799	T	0.975	0.58077	D	0.453	0.46205	P	0.012935	0.29007	N	0.361627	0.925501	0.36807	D	2.045	0.56016	M	2.01	0.21291	T	-3.14	0.64019	D	0.49	0.52829	-1.0673	0.10017	T	0.048	0.20474	T	10	0.21734202	0.38343	T	0.011615	0.29407	T	0.074	0.21613	0.514	0.61307	0.365703291355	0.36175	0.8142652245602654	0.81382	0.664560918169	0.59094	0.425012528896	0.28526	T	0.013387	0.11587	T	-0.0921113	0.37728	T	-0.370088	0.36879	T	0.96986323595047	0.68743	D	0.934107	0.75346	D	0.7687295	0.81972	0.5289093	0.72781	0.7687295	0.81973	0.5289093	0.72781	-14.739	0.96328	D	.	.	0.243	0.52704	B	.;.;.	.;.;.	3.666615	0.52120	23.2	0.98017380963567591	0.37605	0.82275	0.41527	D	AEFDGBI	0.370059	0.45657	N	0.0206793420780246	0.42794	2.585358	0.0596414052815449	0.42539	2.574797	0.998252144779285	0.36648	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	4.46	3.55	0.39770	3.694000	0.54474	9.480000	0.80881	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.2987:0.7013:0.0	13.505	0.60935	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2147.33	37	chr10	124484276	.	G	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=748;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.085;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	18	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,23:134:99:0|1:124989533_G_A:611,0,4489:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:125,19:144:77:77,0,4191	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/0:157,0:157:39:0,39,3863	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,19:158:99:0|1:124994489_T_G:379,0,5738:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,24:164:99:0|1:124994489_T_G:567,0,5741:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,24:166:99:0|1:124994489_T_G:561,0,5777:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,30:175:99:0|1:124994523_G_A:760,0,5860:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:140,32:172:99:401,0,3906	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:136,31:167:99:259,0,3827	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,36:165:99:0|1:124994577_C_A:1063,0,5223:124994577	0	0	19	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1771.33	259	chr10	124998077	.	C	G	1771.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.647;DP=3498;ExcessHet=0.7564;FS=15.58;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.756;QD=2.49;ReadPosRankSum=1.42;SOR=2.216	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:194,0:194:0:.:.:0,0,3485:.	3	0	4	12
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1753.33	256	chr10	124998080	.	G	C	1753.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.292;DP=3518;ExcessHet=0.7564;FS=15.576;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.729;QD=2.45;ReadPosRankSum=1.75;SOR=2.218	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:198,0:198:0:.:.:0,0,3247:.	3	0	4	12
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1799.33	255	chr10	124998087	.	T	C	1799.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.812;DP=3535;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=-8.764;QD=2.51;ReadPosRankSum=3.16;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:201,0:201:0:.:.:0,0,3595:.	3	0	4	12
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1757.33	259	chr10	124998090	.	G	A	1757.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.557;DP=3577;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.835;QD=2.41;ReadPosRankSum=3.64;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:203,0:203:0:.:.:0,0,3393:.	3	0	4	12
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1780.33	276	chr10	124998111	.	A	C	1780.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.781;DP=3589;ExcessHet=0.7564;FS=15.168;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.882;QD=2.46;ReadPosRankSum=4.79;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0:189:0:.:.:0,0,3564:.	3	0	4	12
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1759.33	274	chr10	124998113	.	A	G	1759.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.006;DP=3601;ExcessHet=0.7564;FS=15.272;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.929;QD=2.41;ReadPosRankSum=4.27;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:191,0:191:0:.:.:0,0,3477:.	3	0	4	12
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	446.39	235	chr10	125003006	.	T	C	446.39	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.486;DP=2698;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.097;QD=0.84;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,9:126:26:0|1:125003006_T_C:26,0,4843:125003006	5	0	5	9
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	419.35	233	chr10	125003008	.	T	C	419.35	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.65;DP=2690;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.21;MQRankSum=-5.097;QD=0.78;ReadPosRankSum=0.883;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,9:126:26:0|1:125003006_T_C:26,0,4843:125003006	5	0	5	9
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	440.56	235	chr10	125003010	.	C	T	440.56	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.965;DP=2699;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3359;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.032;QD=0.83;ReadPosRankSum=0.743;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,9:123:35:0|1:125003006_T_C:35,0,4760:125003006	5	0	5	9
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,9:119:47:0|1:125003036_C_A:47,0,4544:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,14:120:99:0|1:125003062_T_A:269,0,4336:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,14:121:99:0|1:125003062_T_A:266,0,4371:125003062	4	0	7	8
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	84.3	74	chr10	125003381	.	AC	A	84.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=1809;ExcessHet=0;FS=18.65;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=59.23;MQRankSum=-9.46;QD=0.83;ReadPosRankSum=-1.271;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:86,5:91:49:0|1:125003381_AC_A:0,49,3645:125003381	18	0	1	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	296.38	60	chr10	125003448	.	G	C	296.38	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.301;DP=1574;ExcessHet=0.3672;FS=5.744;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=59.14;MQRankSum=-8.275;QD=1.23;ReadPosRankSum=0.628;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:59:0|1:125003425_G_C:59,0,2669:125003425	7	0	3	9
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	35.05	51	chr10	125003470	.	G	T	35.05	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=1409;ExcessHet=0;FS=0;InbreedingCoeff=-0.1697;MLEAC=2;MLEAF=0.1;MQ=59.19;MQRankSum=-7.018;QD=0.47;ReadPosRankSum=-0.093;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,109,1800:.	9	0	1	9
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039033	.	T	A	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.557;DP=1277;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.85;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.955;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	15	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039035	.	T	C	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.641;DP=1268;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.84;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.658;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	15	0	4	0
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2227.33	38	chr10	125576858	.	G	A	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=793;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-1.378;SOR=1.02	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr10	125766928	125766928	G	A	exonic	MMP21	.	nonsynonymous SNV	MMP21:NM_147191:exon7:c.C1444T:p.L482F	Heterotaxy, visceral, 7, autosomal, Autosomal recessive	443	1077	1	1	0	3	0.00139082	.	.	.	2345954	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00718360827194	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs148927347	7.031e-05	7.114e-05	6.989e-05	7.074e-05	0.0012	5.892e-05	5.499e-05	0.0006	0.0004	3.041e-05	0.0002	0.0005	0	0	0.0012	5.955e-05	0.0002	0	7.886e-05	7.881e-05	8.993e-05	6.726e-05	0.0001	4.497e-05	3.512e-05	7.908e-05	5.994e-05	0	0	6.545e-05	0	0	0	0.0032	0.0001	0	0	0.118	0.28148	T	0.072	0.43344	T	0.973	0.57599	D	0.761	0.56482	P	0.007131	0.31583	N	0.296855	1	0.08975	N	2.36	0.67893	M	4.22	0.02640	T	-1.31	0.32791	N	0.092	0.07125	-1.0661	0.10293	T	0.018	0.07706	T	10	0.13284495	0.25285	T	0.007184	0.19034	T	0.123	0.34020	.	.	0.544260415555	0.54080	0.2851287177214182	0.28425	0.712895479657	0.61788	0.395226061344	0.24404	T	0.037597	0.24533	T	-0.47273	0.00817	T	-0.657141	0.08460	T	0.114311772975504	0.13865	T	0.642936	0.25461	T	0.082573496	0.19028	0.108969815	0.26256	0.082573496	0.19028	0.108969815	0.26256	-9.082	0.68222	D	0.465125307003192	0.54661	0.103	0.18456	B	.	.	3.951709	0.57900	23.9	0.99744108572231627	0.83703	0.83995	0.43083	D	AEFDBI	0.632490	0.61308	D	0.269990427520593	0.54635	3.628534	0.180836274481804	0.48798	3.090923	0.99916775904181	0.38622	0.522611	0.21652	0	0.54472	0.11627	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	5.95	4.07	0.46726	4.466000	0.59882	7.145000	0.57662	0.672000	0.70159	0.891000	0.31220	1.000000	0.68203	0.848000	0.40082	0.0929:0.2803:0.6268:0.0	7.761	0.28116	940	0.13648	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1489.33	43	chr10	125766928	.	G	A	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.807;DP=735;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.064;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1496	18	0	1	0
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M	.	430	1090	2	0	0	2	0.00091659	.	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1917.33	154	chr10	125859758	.	C	T	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=790;ExcessHet=0;FS=3.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.713;SOR=0.999	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1349	18	0	1	0
chr10	125989303	125989303	G	A	exonic	FANK1	.	nonsynonymous SNV	FANK1:NM_001350939:exon4:c.G340A:p.V114I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs578135024	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	6.33e-05	8.403e-05	0	0	6.204e-05	0.0004	0.0003	0.0004	3.799e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.621e-05	0	0.0002	0	0	0	0	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	966.33	34	chr10	125989303	.	G	A	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.946;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-0.178;SOR=0.9	GT:AD:DP:GQ:PL	0/1:25,30:55:99:980,0,877	18	0	1	0
chr10	126004975	126004975	T	C	exonic	FANK1	.	nonsynonymous SNV	FANK1:NM_001363549:exon7:c.T613C:p.C205R,FANK1:NM_145235:exon7:c.T631C:p.C211R,FANK1:NM_001350939:exon8:c.T709C:p.C237R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0770433906192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.373	0.16425	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.755	0.01709	N	0.74	0.61798	T	-3.44	0.67477	D	0.883	0.88137	-0.6421	0.63056	T	0.199	0.55400	T	10	0.8332908	0.82488	D	0.077043	0.72676	D	0.401	0.71479	0.694	0.83126	0.725089307665	0.72265	0.7988575990482343	0.79838	0.847208333922	0.68373	0.657010436058	0.60982	T	0.037886	0.32783	T	0.269779	0.80421	D	0.149742	0.80168	D	0.975875616073608	0.71128	D	0.794321	0.77472	T	0.75656754	0.81251	0.6525042	0.79663	0.75656754	0.81253	0.6525042	0.79664	-8.454	0.64124	D	.	.	0.885	0.82891	P	.;.;.	.;.;.	4.056432	0.60165	24.2	0.99497749912825117	0.67859	0.90093	0.51004	D	AEFGI	0.761068	0.69889	D	0.327187792220189	0.57547	3.922543	0.413637316673822	0.62413	4.456327	0.999929464124752	0.46280	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.79	5.79	0.91751	3.869000	0.55775	7.799000	0.69096	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.118	0.72094	964	0.07719	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1956.33	40	chr10	126004975	.	T	C	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.026;DP=883;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.42;SOR=0.475	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr10	126464782	126464782	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon4:c.T1448C:p.F483S,C10orf90:NM_001350921:exon5:c.T1739C:p.F580S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00801001120175	7.7e-05	0.000399361	0.0002	0	0.0003	0	0	0.0003	0.0022	0.0002	0.000194	30	154602	rs144737013	0.0001	0.0001	9.937e-05	0.0001	0.0028	0.0001	0.0001	0.0017	0.0014	2.987e-05	0.0004	0.0017	0	0	0.0028	4.856e-05	0.0003	0.0004	0.0001	0.0001	0.0001	0.0002	0.0004	9.742e-05	8.256e-05	8.87e-05	5.282e-05	2.408e-05	0	0.0003	0.0026	0	0	0	8.822e-05	0	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.215	0.30128	B	0.069	0.27757	B	0.994674	0.08007	N	0.996520	0.992938	0.41786	D	1.39	0.34934	L	2.23	0.18083	T	-0.54	0.19509	N	0.085	0.07535	-1.0829	0.06795	T	0.025	0.10598	T	10	0.010611415	0.00235	T	0.00801	0.21239	T	0.071	0.20720	.	.	0.218112801441	0.21410	0.1666848352514686	0.16588	0.176264106329	0.19841	.	.	.	0.004741	0.13319	T	-0.466777	0.00891	T	-0.586303	0.13988	T	0.0614712516585581	0.07398	T	0.639636	0.25265	T	0.2597068	0.49024	0.20430094	0.44548	0.2597068	0.49024	0.20430094	0.44547	-1.677	0.02170	T	.	.	0.131	0.31658	B	.;.;.	.;.;.	1.302348	0.17042	12.92	0.98646489420257966	0.44123	0.14130	0.18239	N	AEFGI	0.105714	0.21115	N	-0.573649428483817	0.19749	1.035988	-0.56380640612465	0.20439	1.101238	0.999881670905297	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	1.384000	0.34003	0.763000	0.21331	0.743000	0.86499	0.001000	0.13787	0.000000	0.08366	0.884000	0.42379	1.0:0.0:0.0:0.0	11.200	0.47967	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2087.33	40	chr10	126464782	.	A	G	2087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.331;DP=758;ExcessHet=0;FS=5.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.619;SOR=0.358	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1319	18	0	1	0
chr10	126504556	126504556	C	T	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.G644A:p.G215E,C10orf90:NM_001350921:exon4:c.G935A:p.G312E,C10orf90:NM_001350922:exon4:c.G935A:p.G312E,C10orf90:NM_001350923:exon4:c.G935A:p.G312E	.	435	1077	10	0	0	10	0.00462107	.	.	.	723841	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00424603107095	0.0032	0.00139776	0.0026	0.0005	0.0013	0	0.0012	0.0033	0.0022	0.0036	0.0025873	400	154602	rs145052480	0.0037	0.0037	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0007	0.0017	0.0002	0	0.0014	0.0038	0.0043	0.0031	0.0038	0.0025	0.0025	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0009	0	0.0012	0.0003	0	0.0014	0	0.0041	0.0024	0.0037	0.343	0.12961	T	0.531	0.10138	T	0.228	0.30509	B	0.083	0.29179	B	0.421267	0.04649	N	1.349420	1	0.08975	N	1.04	0.26193	L	2.4	0.15608	T	0.6	0.03824	N	0.212	0.23632	-1.0001	0.29888	T	0.039	0.16763	T	10	0.0058040917	0.00129	T	0.004246	0.10247	T	0.017	0.02790	.	.	0.132336055621	0.12781	0.05946805027738582	0.05886	0.103164312914	0.11667	.	.	.	0.004728	0.11951	T	-0.619005	0.00112	T	-0.661942	0.08135	T	0.0006389892534907	0.00006	T	0.69993	0.30971	T	0.036325146	0.04446	0.050825723	0.08056	0.036325146	0.04446	0.050825723	0.08056	-3.608	0.17973	T	.	.	0.088	0.23709	B	.;.;.;.	.;.;.;.	-0.003488	0.04258	1.057	0.60175562718248343	0.06400	0.09780	0.15458	N	AEFGBCI	0.083687	0.16956	N	-1.04212494890468	0.07743	0.3607118	-1.10611925088509	0.07583	0.3693999	0.638559322367664	0.22032	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	5.0	-0.355	0.11961	-0.146000	0.10233	-4.089000	0.02349	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4233:0.0:0.5767	7.473	0.26527	609	0.67094	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.010101	0.005435	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2085.33	111	chr10	126504556	.	C	T	2085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.042;DP=1371;ExcessHet=0;FS=6.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.148;SOR=0.374	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2099,0,2393	18	0	1	0
chr10	127032219	127032219	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon10:c.C956T:p.S319L,DOCK1:NM_001377554:exon16:c.C1595T:p.S532L,DOCK1:NM_001377558:exon16:c.C1595T:p.S532L,DOCK1:NM_001377547:exon17:c.C1685T:p.S562L,DOCK1:NM_001377548:exon17:c.C1664T:p.S555L,DOCK1:NM_001377550:exon17:c.C1649T:p.S550L,DOCK1:NM_001290223:exon18:c.C1811T:p.S604L,DOCK1:NM_001377543:exon18:c.C1748T:p.S583L,DOCK1:NM_001377546:exon18:c.C1811T:p.S604L,DOCK1:NM_001377553:exon18:c.C1748T:p.S583L,DOCK1:NM_001377556:exon18:c.C1748T:p.S583L,DOCK1:NM_001377561:exon18:c.C1811T:p.S604L,DOCK1:NM_001380:exon18:c.C1748T:p.S583L,DOCK1:NM_001377544:exon19:c.C1784T:p.S595L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0023524141887	7.8e-05	.	6.772e-05	0	0.0003	0	0	6.005e-05	0	0.0001	2.59e-05	4	154602	rs368083273	4.419e-05	4.788e-05	3.291e-05	5.564e-05	0.0005	3.542e-05	3.223e-05	0.0002	0.0002	6.018e-05	0.0001	0	0	0	0.0005	2.442e-05	3.337e-05	0.0003	4.596e-05	4.593e-05	7.707e-05	1.343e-05	0.0001	2.108e-05	1.526e-05	2.258e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.879e-05	0.0005	0	0.059	0.37536	T	0.147	0.32783	T	0.006	0.13644	B	0.009	0.14300	B	0.000977	0.40836	D	0.213348	0.999849	0.49770	D	1.125	0.28843	L	3.69	0.04114	T	-1.54	0.37375	N	0.22	0.24634	-0.9563	0.39861	T	0.012	0.04700	T	10	0.0983769	0.17783	T	0.002352	0.04562	T	0.021	0.04004	.	.	0.643518659296	0.64057	0.27875438128904206	0.27788	0.214176988363	0.23954	0.587836384773	0.51188	T	0.098867	0.40311	T	-0.365876	0.03808	T	-0.508286	0.21492	T	0.0729968100786209	0.09065	T	0.952605	0.81930	D	0.08722753	0.20304	0.096429735	0.22912	0.08722753	0.20304	0.096429735	0.22912	-6.325	0.48920	T	.	.	0.057	0.00604	B	.;.	.;.	3.502878	0.49019	22.7	0.99774970745138225	0.86260	0.95434	0.64705	D	AEFDBI	0.341989	0.43829	N	-0.119105570741231	0.36561	2.114987	0.0363129790764668	0.41414	2.48774	0.999994681867171	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.85	3.85	0.43556	2.561000	0.45567	3.824000	0.39965	0.599000	0.40250	0.945000	0.32849	0.997000	0.33255	0.996000	0.76049	0.1701:0.8299:0.0:0.0	12.254	0.53931	947	0.11584	DHR-1 domain|DHR-1 domain;DHR-1 domain|DHR-1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1106.33	34	chr10	127032219	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.121;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.75;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1326	18	0	1	0
chr10	127444196	127444196	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon42:c.C4475T:p.S1492L,DOCK1:NM_001377554:exon48:c.C5114T:p.S1705L,DOCK1:NM_001377556:exon48:c.C5072T:p.S1691L,DOCK1:NM_001377558:exon48:c.C5060T:p.S1687L,DOCK1:NM_001377546:exon49:c.C5210T:p.S1737L,DOCK1:NM_001377547:exon49:c.C5204T:p.S1735L,DOCK1:NM_001377548:exon49:c.C5183T:p.S1728L,DOCK1:NM_001377550:exon49:c.C5168T:p.S1723L,DOCK1:NM_001377553:exon49:c.C5147T:p.S1716L,DOCK1:NM_001290223:exon50:c.C5330T:p.S1777L,DOCK1:NM_001380:exon50:c.C5267T:p.S1756L,DOCK1:NM_001377543:exon51:c.C5429T:p.S1810L,DOCK1:NM_001377544:exon51:c.C5303T:p.S1768L	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0056	0.00479233	0.0100	0.0021	0.0065	0	0.0130	0.0143	0.0035	0.0034	0.0065588	1014	154602	rs41314432	0.0074	0.0074	0.0076	0.0072	0.0081	0.0073	0.0072	0.0080	0.0079	0.0011	0.0046	0.0102	2.544e-05	0.0116	0.0042	0.0081	0.0061	0.0030	0.0056	0.0056	0.0056	0.0056	0.0075	0.0053	0.0052	0.0070	0.0068	0.0016	0	0.0056	0.0144	0	0.0103	0	0.0075	0.0071	0.0029	0.12	0.27904	T	0.016	0.60972	D	0.994	0.66517	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	3.83	0.03702	T	-1.47	0.35991	N	0.686	0.69213	-1.0701	0.09391	T	0.017	0.06855	T	10	0.007295072	0.00166	T	.	.	.	0.220	0.51569	.	.	0.808986398115	0.80719	0.42786952484670565	0.42703	0.521547162058	0.49923	0.644025623798	0.59136	T	0.299598	0.67212	T	-0.263683	0.12472	T	-0.145	0.59683	T	0.0380534300237087	0.03341	T	0.937406	0.76468	D	0.15551768	0.35145	0.1430018	0.34001	0.18044944	0.39166	0.1430018	0.34000	-6.055	0.46737	T	.	.	0.147	0.42302	B	.;.	.;.	3.994214	0.58813	24.0	0.99908814149739777	0.97875	0.98377	0.82158	D	AEFDBI	0.856697	0.77397	D	0.546863735955575	0.69891	5.421912	0.499922273781699	0.67986	5.158095	0.999999999460723	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	6.927000	0.75657	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	17.896	0.88806	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.010101	0.008152	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2126.33	34	chr10	127444196	.	C	T	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=858;ExcessHet=0;FS=4.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.42;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1406	18	0	1	0
chr10	127878219	127878219	G	A	exonic	CLRN3	.	nonsynonymous SNV	CLRN3:NM_152311:exon3:c.C611T:p.A204V	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0162966796802	.	.	6.589e-05	0	8.637e-05	0	0	0	0	0.0004	6.47e-05	10	154602	rs770990419	9.44e-05	9.44e-05	5.989e-05	0.0001	0.0009	8.134e-05	7.65e-05	0.0007	0.0007	0	0	0	0	0	0	5.396e-05	3.312e-05	0.0009	3.286e-05	3.284e-05	2.569e-05	4.036e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.036	0.43393	D	0.08	0.41913	T	0.113	0.26349	B	0.046	0.24676	B	0.089258	0.20437	N	0.475155	0.986071	0.40377	D	1.975	0.53506	M	-0.98	0.75789	T	-2.54	0.55025	D	0.106	0.09066	-0.9778	0.35503	T	0.176	0.52068	T	10	0.0664821	0.09125	T	0.016297	0.37489	T	0.119	0.33137	0.336	0.32491	0.709114936604	0.70657	0.5293227187668601	0.52856	0.056781700345	0.06275	0.401974052191	0.25343	T	0.062762	0.32000	T	-0.396958	0.02424	T	-0.424762	0.30532	T	0.173797203117312	0.18835	T	0.576842	0.20728	T	0.1002047	0.23659	0.16407542	0.38028	0.1002047	0.23658	0.16407542	0.38027	-4.033	0.24296	T	.	.	0.126	0.26638	B	.	.	3.230353	0.44050	21.9	0.9929537532056002	0.58433	0.82391	0.41625	D	AEFBI	0.592230	0.58802	D	-0.353366254645676	0.27148	1.487206	-0.189632027957996	0.31916	1.810787	0.999487847001448	0.39952	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.72	2.83	0.32150	3.482000	0.52951	5.589000	0.48992	0.676000	0.76740	0.866000	0.30720	1.000000	0.68203	0.996000	0.76049	0.0861:0.0:0.7466:0.1672	7.317	0.25681	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2808.33	33	chr10	127878219	.	G	A	2808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=835;ExcessHet=0;FS=2.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.46;SOR=0.513	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr10	128077635	128077635	G	A	exonic	PTPRE	.	nonsynonymous SNV	PTPRE:NM_001323357:exon15:c.G1084A:p.E362K,PTPRE:NM_130435:exon16:c.G1570A:p.E524K,PTPRE:NM_001316677:exon18:c.G1744A:p.E582K,PTPRE:NM_001323354:exon18:c.G1744A:p.E582K,PTPRE:NM_001323355:exon18:c.G1804A:p.E602K,PTPRE:NM_001323356:exon18:c.G1798A:p.E600K,PTPRE:NM_006504:exon19:c.G1744A:p.E582K,PTPRE:NM_001316676:exon20:c.G1777A:p.E593K	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00234187529655	.	.	8.512e-06	0	0	0	0	0	0	6.374e-05	6.5e-06	1	154602	rs768162013	1.234e-05	1.3e-05	8.179e-06	1.655e-05	0.0002	7.71e-06	6.36e-06	8.37e-06	5.04e-06	0	0	0	5.049e-05	0	0.0002	1.171e-05	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.11478	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000005	0.62929	D	0.060142	0.996825	0.46578	D	0.265	0.09922	N	2.81	0.10975	T	0.02	0.06739	N	0.156	0.16168	-0.9625	0.38704	T	0.011	0.04369	T	10	0.1076045	0.19994	T	0.002342	0.04535	T	0.159	0.41286	0.462	0.53079	0.436455679973	0.43264	0.23488814188065454	0.23403	0.302120608738	0.32542	0.369432389736	0.20750	T	0.145328	0.48239	T	-0.370415	0.03572	T	-0.600724	0.12750	T	0.356355905532837	0.27267	T	0.884012	0.60664	D	0.2580739	0.48855	0.13302416	0.31908	0.2580739	0.48855	0.13302416	0.31907	-4.098	0.27141	T	.	.	0.093	0.14706	B	.;.	.;.	3.241345	0.44242	21.9	0.99540504792978513	0.70461	0.80405	0.40051	D	AEFBCI	0.518691	0.54428	D	-0.177201129407839	0.34085	1.941357	0.0278467785863593	0.41013	2.456934	0.99999745333247	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.608075	0.38828	0	0.711	0.71501	0	.	.	4.3	3.3	0.36912	6.500000	0.73596	7.413000	0.58658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3733:0.0:0.6266:0.0	3.470	0.07129	975	0.05339	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1020.33	33	chr10	128077635	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=712;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.559;SOR=0.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	18	0	1	0
chr10	128101487	128101487	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon13:c.C8396T:p.A2799V,MKI67:NM_002417:exon14:c.C9476T:p.A3159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00328878426598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326960449	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.216	0.20002	T	0.271	0.24054	T	0.0	0.02946	B	0.0	0.01387	B	0.560646	0.05422	N	1.280620	1	0.08975	N	-0.55	0.02420	N	4.97	0.01356	T	-0.64	0.19720	N	0.066	0.03841	-0.9069	0.47227	T	0.003	0.00832	T	10	0.04004383	0.02541	T	0.003289	0.07298	T	0.012	0.01476	0.222	0.14518	0.119812018005	0.11559	0.03052940566170743	0.03001	0.0417484063962	0.04490	0.219794660807	0.01298	T	0.005336	0.04780	T	-0.40889	0.02022	T	-0.825118	0.01352	T	0.0230153471929581	0.01025	T	0.372463	0.08834	T	0.016449155	0.00199	0.028945588	0.01180	0.016449155	0.00198	0.028945588	0.01180	-4.351	0.28886	T	.	.	0.075	0.05623	B	.;.	.;.	0.876455	0.12494	9.026	0.93150780887034168	0.22799	0.02444	0.06882	N	AEFBCI	0.011221	0.00095	N	-1.42861116861363	0.02390	0.1054973	-1.4397996952039	0.02864	0.1325268	0.999618757004597	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	2.99	-0.258	0.12334	-0.001000	0.12880	-0.010000	0.13073	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.389:0.2753:0.3357:0.0	5.46	0.15907	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2319.33	188	chr10	128101487	.	G	A	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.761;DP=2654;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.124;SOR=0.897	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	18	0	1	0
chr10	128103278	128103278	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7482C:p.E2494D,MKI67:NM_002417:exon13:c.G8562C:p.E2854D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00226310355017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.613e-06	0.0004	1.093e-05	8.279e-06	1.174e-05	5.58e-06	4.36e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.119	0.36101	T	0.997	0.70673	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.49	0.05071	T	-0.88	0.23808	N	0.094	0.16725	-1.0286	0.20908	T	0.021	0.08686	T	9	0.13874048	0.26384	T	0.002263	0.04314	T	0.115	0.32236	0.551	0.66716	0.384086055536	0.38021	0.023012059597842277	0.02253	0.253544675859	0.27924	0.240642219782	0.02849	T	0.008993	0.08212	T	-0.312787	0.07504	T	-0.687073	0.06561	T	0.265743708034814	0.23564	T	0.50475	0.15921	T	0.117704056	0.27745	0.10210266	0.24462	0.117704056	0.27744	0.10210266	0.24461	-6.721	0.51969	T	.	.	0.118	0.24260	B	.;.	.;.	0.238562	0.06189	2.640	0.97958759839123999	0.37158	0.05950	0.11907	N	AEFDGBCI	0.035951	0.04710	N	-0.653155426560856	0.17368	0.8931397	-0.910198625553295	0.11853	0.6063969	0.999999978715648	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-4.34	0.03412	-0.632000	0.05587	-5.532000	0.01685	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2747:0.1905:0.269:0.2659	0.177	0.00111	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	387.58	157	chr10	128103278	.	C	G	387.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.684;DP=2464;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.19;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:99:.:.:0,120,1800:.	16	0	2	1
chr10	128103280	128103280	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7480C:p.E2494Q,MKI67:NM_002417:exon13:c.G8560C:p.E2854Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00403197585609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.485e-06	0.0003	2.729e-06	8.268e-06	7.214e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.214e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.177	0.31730	T	0.998	0.73220	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.195	0.61839	M	3.45	0.05311	T	-0.8	0.22078	N	0.109	0.19459	-1.0547	0.13119	T	0.038	0.16505	T	9	0.17886433	0.32993	T	0.004032	0.09587	T	0.052	0.14661	0.541	0.65304	0.518970300747	0.51540	0.04773937039326191	0.04716	0.283620578612	0.30797	0.235243186355	0.02379	T	0.011953	0.10589	T	-0.3115	0.07616	T	-0.685224	0.06669	T	0.250668425890041	0.22903	T	0.577942	0.20808	T	0.13167799	0.30686	0.09273483	0.21870	0.13167799	0.30685	0.09273483	0.21869	-8.247	0.62741	D	.	.	0.149	0.33039	B	.;.	.;.	0.759877	0.11298	7.920	0.98886276083847624	0.47912	0.20083	0.20908	N	AEFDGBCI	0.033550	0.04004	N	-0.293471082601323	0.29398	1.630002	-0.540287322695226	0.21065	1.137768	0.999999740880393	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.02	0.19102	-0.203000	0.09440	-1.074000	0.06411	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1866:0.5896:0.0:0.2238	4.010	0.09108	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	389.24	157	chr10	128103280	.	C	G	389.24	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.758;DP=2441;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.1015;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.16;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:99:.:.:0,120,1800:.	14	0	2	3
chr10	128103281	128103281	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G7479C:p.E2493D,MKI67:NM_002417:exon13:c.G8559C:p.E2853D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00413029876425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.31235	T	0.445	0.13140	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.795	0.47270	L	3.72	0.04014	T	-0.57	0.17210	N	0.139	0.20528	-1.0070	0.27850	T	0.023	0.09832	T	9	0.17917964	0.33039	T	0.00413	0.09900	T	0.087	0.25287	0.554	0.67133	0.342168650903	0.33825	0.036519337438074756	0.03598	0.227472622474	0.25299	0.246916860342	0.03450	T	0.009336	0.08507	T	-0.289186	0.09718	T	-0.653172	0.08733	T	0.232997477054596	0.22093	T	0.413959	0.10802	T	0.062381484	0.13023	0.07715427	0.17160	0.062381484	0.13023	0.07715427	0.17160	-7.036	0.54296	T	.	.	0.173	0.37969	B	.;.	.;.	-0.254554	0.02823	0.391	0.97478973749574904	0.34178	0.08471	0.14396	N	AEFDGBCI	0.035167	0.04481	N	-0.763170779599195	0.14277	0.7099313	-1.00746602192106	0.09620	0.4796704	0.999999819180609	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	-2.02	0.06981	-1.009000	0.03770	-7.411000	0.01162	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3205:0.1775:0.502	4.172	0.09795	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	386.89	157	chr10	128103281	.	C	G	386.89	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.495;DP=2446;ExcessHet=0.119;FS=206.874;InbreedingCoeff=-0.0578;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=3.08;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:99:.:.:0,120,1800:.	17	0	2	0
chr10	128104971	128104971	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.T5789C:p.L1930S,MKI67:NM_002417:exon13:c.T6869C:p.L2290S	.	435	1071	15	1	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00159744	0.0017	0.0005	0.0088	0	0	0.0004	0.0011	0.0047	0.0015977	247	154602	rs142585399	0.0008	0.0008	0.0007	0.0009	0.0083	0.0007	0.0007	0.0076	0.0074	8.961e-05	0.0083	0	0	0	0.0017	0.0002	0.0010	0.0049	0.0008	0.0008	0.0008	0.0009	0.0052	0.0007	0.0007	0.0043	0.0040	0.0004	0	0.0052	0	0	0	0	0.0003	0.0005	0.0029	0.051	0.45039	T	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.042810	0.01910	N	3.759080	1	0.08975	N	2.325	0.66631	M	3.23	0.06931	T	-2.04	0.51157	N	0.354	0.39558	-0.8799	0.49770	T	0.036	0.15683	T	10	0.0048911273	0.00104	T	.	.	.	0.228	0.52768	.	.	0.235664433957	0.23186	0.12604868837369124	0.12530	0.18284391176	0.20557	0.213060647249	0.00948	T	0.019472	0.15507	T	-0.502251	0.00555	T	-0.48483	0.23935	T	0.0580150899496101	0.06852	T	0.306769	0.05902	T	0.04376589	0.06878	0.0493814	0.07536	0.04376589	0.06878	0.0493814	0.07535	-7.497	0.57589	T	.	.	0.186	0.40197	B	.;.	.;.	0.625634	0.09942	6.698	0.98408434888710794	0.41148	0.04019	0.09450	N	AEFBCI	0.032231	0.03598	N	-0.660365436877656	0.17158	0.8805847	-0.928975025558241	0.11412	0.5812225	0.999765059627799	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.6	-2.11	0.06787	-1.854000	0.01757	-15.955000	0.00333	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3607:0.1582:0.3251:0.1561	1.041	0.01461	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	8304.83	202	chr10	128104971	.	A	G	8304.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.062;DP=3921;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=12.55;ReadPosRankSum=0.479;SOR=0.651	GT:AD:DP:GQ:PL	0/0:225,0:225:99:0,120,1800	17	0	2	0
chr10	128107510	128107510	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.C3250T:p.P1084S,MKI67:NM_002417:exon13:c.C4330T:p.P1444S	.	415	1054	50	3	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0019	0.00638978	0.0053	0.0006	0.0015	0	0.0003	0.0030	0.0099	0.0250	0.0047541	735	154602	rs150235556	0.0041	0.0041	0.0034	0.0048	0.0250	0.0040	0.0040	0.0241	0.0238	0.0005	0.0015	0.0039	5.038e-05	0.0002	0.0154	0.0029	0.0047	0.0250	0.0025	0.0025	0.0021	0.0029	0.0226	0.0023	0.0022	0.0192	0.0179	0.0005	0	0.0025	0.0020	0	9.452e-05	0.0102	0.0028	0.0033	0.0226	0.549	0.06606	T	0.533	0.11115	T	0.274	0.31942	B	0.095	0.34693	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	4.45	0.02121	T	-0.55	0.19509	N	0.045	0.02559	-0.9208	0.45445	T	0.004	0.01192	T	9	0.0024415255	0.00036	T	.	.	.	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06821357982089558	0.06759	0.0705515030347	0.07905	0.20219168067	0.00523	T	0.006402	0.05833	T	-0.709069	0.00032	T	-0.772381	0.02690	T	0.00125653303169228	0.00012	T	0.392661	0.09777	T	0.017183786	0.00253	0.035346843	0.02770	0.017183786	0.00253	0.035346843	0.02769	-4.658	0.35317	T	.	.	0.125	0.26294	B	.;.	.;.	-0.793587	0.01119	0.051	0.63563244844952571	0.07257	0.05960	0.11919	N	AEFBCI	0.033499	0.03990	N	-1.40033669219104	0.02636	0.1166865	-1.53845965137984	0.02056	0.09401566	0.998780027204579	0.37667	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.15	-4.92	0.02848	-2.506000	0.01038	-12.966000	0.00488	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3384:0.0:0.2863:0.3753	3.504	0.07244	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.013587	0.026316	0.000000	0.008621	0.003049	0.015152	0.02632	3481.33	191	chr10	128107510	.	G	A	3481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.163;DP=3188;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.292;SOR=0.667	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	18	0	1	0
chr10	128107642	128107642	C	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G3118T:p.V1040L,MKI67:NM_002417:exon13:c.G4198T:p.V1400L	.	422	1096	1	1	2	5	0.00136674	.	.	.	712244	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.069	0.00333708361359	0.0031	0.00159744	0.0026	0.0004	0.0021	0	0.0020	0.0040	0.0044	0	0.0027102	419	154602	rs138888836	0.0049	0.0049	0.0051	0.0048	0.0060	0.0048	0.0048	0.0059	0.0058	0.0007	0.0025	7.652e-05	0	0.0019	0.0009	0.0060	0.0055	8.115e-05	0.0032	0.0032	0.0034	0.0030	0.0055	0.0030	0.0029	0.0050	0.0049	0.0009	0	0.0034	0	0	0.0014	0.0034	0.0055	0.0052	0	0.325	0.14843	T	0.267	0.22561	T	0.695	0.55692	P	0.205	0.56122	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	3.68	0.04151	T	-0.78	0.21644	N	0.143	0.14338	-0.9718	0.36819	T	0.012	0.04747	T	9	0.004554361	0.00094	T	0.003337	0.07451	T	0.069	0.20116	0.55	0.66576	0.42069145522	0.41685	0.06207278636198271	0.06147	0.0842696433449	0.09510	0.229588523507	0.01938	T	0.007845	0.07229	T	-0.679957	0.00048	T	-0.745063	0.03682	T	0.00516271574392646	0.00056	T	0.419858	0.11135	T	0.02984551	0.02548	0.03206927	0.01886	0.02984551	0.02548	0.03206927	0.01886	-5.209	0.39033	T	.	.	0.165	0.36416	B	.;.	.;.	-1.430561	0.00339	0.006	0.64616851382568774	0.07543	0.08585	0.14494	N	AEFDBCI	0.045931	0.07569	N	-1.09366305270272	0.06759	0.3120772	-1.24686693374706	0.05177	0.2460749	0.642156998097904	0.22063	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.63	-0.57	0.11164	-4.251000	0.00303	-20.000000	0.00162	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3243:0.3546:0.3212	4.301	0.10369	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3427.33	163	chr10	128107642	.	C	A	3427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=2986;ExcessHet=0;FS=0.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.403;SOR=0.63	GT:AD:DP:GQ:PL	0/0:157,0:157:99:0,120,1800	18	0	1	0
chr10	128112204	128112204	C	T	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon8:c.G818A:p.R273Q,MKI67:NM_002417:exon9:c.G1898A:p.R633Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0352065868383	0.0003	0.000599042	0.0005	0	0	0	0	0.0007	0.0011	0.0007	0.0004722	73	154602	rs76882822	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0006	0.0005	0.0001	8.944e-05	3.826e-05	2.519e-05	3.744e-05	0.0003	0.0004	0.0003	0.0007	0.0004	0.0004	0.0003	0.0006	0.0008	0.0004	0.0003	0.0007	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0008	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000120	0.50451	D	0.074478	1	0.08975	N	2.31	0.66127	M	4.18	0.02767	T	-2.73	0.64710	D	0.117	0.10626	-1.1292	0.01821	T	0.030	0.13023	T	10	0.030032247	0.01130	T	0.035207	0.56191	D	0.093	0.26882	.	.	0.306695030598	0.30287	0.19251768469360261	0.19169	0.314042582292	0.33690	0.283532321453	0.07989	T	0.103553	0.41230	T	-0.455506	0.01047	T	-0.508863	0.21432	T	0.0909621260662282	0.11332	T	0.776822	0.48145	T	0.08087787	0.18554	0.086246595	0.19968	0.08087787	0.18553	0.086246595	0.19968	-1.816	0.05326	T	.	.	0.213	0.44161	B	.;.	.;.	3.126163	0.42227	21.5	0.99881311120894989	0.95733	0.34707	0.25131	N	AEFDBCI	0.072062	0.14368	N	0.0573735535199925	0.44481	2.721471	-0.178657586685279	0.32323	1.837784	0.99883159904595	0.37777	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	3.11	0.34883	2.787000	0.47487	4.290000	0.42908	0.599000	0.40250	0.326000	0.25555	1.000000	0.68203	0.016000	0.10718	0.0:0.872:0.0:0.128	9.041	0.35479	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2245.33	33	chr10	128112204	.	C	T	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=839;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.051;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1408	18	0	1	0
chr10	131955803	131955803	G	A	exonic	PPP2R2D	.	nonsynonymous SNV	PPP2R2D:NM_018461:exon9:c.G1202A:p.R401Q,PPP2R2D:NM_001291310:exon10:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	.	.	4.195e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782682369	1.928e-05	2.052e-05	8.214e-06	3.046e-05	0.0003	1.337e-05	1.151e-05	0.0002	0.0002	0	0	3.857e-05	2.564e-05	0	0	1.807e-06	1.669e-05	0.0003	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.133	0.34359	T	0.854	0.47077	P	0.345	0.42592	B	0.000025	0.55875	D	0.073525	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.494	0.52740	-1.0661	0.10293	T	0.070	0.28740	T	9	0.27583188	0.45143	T	.	.	.	0.241	0.54641	0.388	0.40951	0.546000776237	0.54254	0.5570125922063712	0.55628	.	.	0.658043861389	0.61129	T	0.037501	0.24497	T	0.00891014	0.52877	T	0.0767437	0.75359	D	0.48589164018631	0.32113	T	0.945205	0.79148	D	0.061177872	0.12640	0.09740025	0.23182	0.061177872	0.12639	0.09740025	0.23181	-9.757	0.72444	D	.	.	0.435	0.61444	A	.	.	4.164573	0.62574	24.5	0.97178902332252481	0.32713	0.88981	0.49180	D	AEFDBCI	0.749999	0.69125	D	-0.176330680006787	0.34121	1.943851	-0.267037642441756	0.29190	1.633496	0.823757229002786	0.24570	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.9	3.0	0.33773	7.061000	0.76398	5.187000	0.47885	-0.108000	0.15293	1.000000	0.71638	0.999000	0.35428	0.046000	0.14843	0.0862:0.0:0.9138:0.0	11.743	0.51070	935	0.14827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1677.33	42	chr10	131955803	.	G	A	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.802;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	18	0	1	0
chr10	131981872	131981872	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon1:c.C130T:p.P44S	.	403	1098	19	2	0	23	0.010365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0033041	86	26028	rs572410005	0.0041	0.0044	0.0034	0.0048	0.0277	0.0040	0.0039	0.0265	0.0261	0.0007	0.0009	0.0023	3.661e-05	0.0277	0.0050	0.0023	0.0035	0.0277	0.0054	0.0054	0.0032	0.0077	0.0190	0.0051	0.0049	0.0159	0.0147	0.0004	0	0.0006	0.0012	0.0002	0.0467	0.0034	0.0028	0.0019	0.0190	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.999916	0.19599	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0038288534	0.00072	T	.	.	.	.	.	.	.	.	.	0.2150976367720552	0.21425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352165	0.08539	T	0.023533164	0.01101	0.062835746	0.12354	0.023533164	0.01101	0.062835746	0.12354	-4.085	0.25068	T	.	.	0.075	0.05491	B	.;.	.;.	0.285013	0.06619	3.111	0.91888445491352655	0.21207	0.15096	0.18742	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999842911	0.74766	0.255962	0.04286	0	0.098	0.03038	0	0.217501	0.04623	0	0.159066	0.04077	0	0.124127	0.25079	2.77	-5.54	0.02343	-3.767000	0.00418	-5.246000	0.01791	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.299:0.2083:0.241	0.368	0.00348	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	419.33	36	chr10	131981872	.	G	A	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.084;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.513;SOR=0.793	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr10	132104863	132104863	G	A	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001105521:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323086:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323087:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323088:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323089:exon2:c.G55A:p.A19T,JAKMIP3:NM_001323090:exon2:c.G55A:p.A19T	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00605322321664	.	.	4.48e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs765693147	9.939e-06	1.368e-05	9.819e-06	1.006e-05	0.0002	5.77e-06	4.51e-06	1e-05	4.77e-06	3.125e-05	0	0	2.747e-05	0	0.0002	6.452e-06	1.71e-05	3.765e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.499	0.07772	T	0.307	0.19908	T	0.002	0.09854	B	0.002	0.06944	B	0.000001	0.84330	D	0.000000	0.999989	0.18198	N	1.39	0.34934	L	1.86	0.24285	T	-0.64	0.18670	N	0.135	0.13198	-1.0264	0.21625	T	0.043	0.18618	T	10	0.07264179	0.10872	T	0.006053	0.15816	T	0.114	0.32008	.	.	0.0666544352282	0.05500	0.8148695801787221	0.81442	0.471021578582	0.46365	0.651057720184	0.60135	T	0.024407	0.18448	T	-0.42014	0.01706	T	-0.60461	0.12426	T	0.194356456398964	0.20098	T	0.826617	0.49005	T	0.06560541	0.14038	0.08223237	0.18752	0.06560541	0.14038	0.08223237	0.18752	-5.631	0.43075	T	.	.	0.088	0.11654	B	.	.	3.019833	0.40410	21.2	0.9706038903948645	0.32192	0.59967	0.31062	D	AEFDGBI	0.073381	0.14677	N	-0.625797173281996	0.18173	0.9413152	-0.583639719168838	0.19920	1.070906	0.0101837842338297	0.11981	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.8	1.88	0.24630	4.302000	0.58887	1.535000	0.27187	0.604000	0.46097	1.000000	0.71638	0.046000	0.21717	0.554000	0.30269	0.1919:0.0:0.8081:0.0	9.031	0.35422	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	37	chr10	132104863	.	G	A	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.85;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=1.27;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	18	0	1	0
chr10	132133457	132133457	C	T	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001105521:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323086:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323087:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323088:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323090:exon4:c.C779T:p.P260L	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0002	0.00259585	0.0014	0	0	0	0	0.0002	0	0.0056	0.0006339	98	154602	rs374372503	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0038	3.052e-05	0	0	0.0002	0	0.0003	3.641e-05	0.0005	0.0044	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	4.809e-05	0	0	0	0	0	0	0.0001	0	0.0068	0.657	0.04742	T	0.663	0.06448	T	0.0	0.02946	B	0.0	0.01387	B	0.276370	0.15029	N	0.633514	0.996055	0.23127	N	-1.04	0.01097	N	2.74	0.11730	T	-1.01	0.26639	N	0.186	0.20262	-0.9676	0.37693	T	0.007	0.02439	T	10	0.0036103725	0.00065	T	.	.	.	0.046	0.12618	.	.	0.0401082797425	0.02173	0.2071371250481263	0.20629	0.262508907343	0.28810	0.385232031345	0.22995	T	0.020059	0.15863	T	-0.690456	0.00042	T	-0.763616	0.02984	T	0.0126356011781552	0.00211	T	0.735926	0.35246	T	0.034650158	0.03928	0.030213136	0.01449	0.034650158	0.03927	0.030213136	0.01448	-0.495	0.00580	T	.	.	0.052	0.00225	B	.	.	1.296797	0.16982	12.89	0.61422658774916639	0.06705	0.26837	0.23107	N	AEFDBCI	0.037547	0.05181	N	-1.23214033243148	0.04540	0.2051315	-1.05531879061184	0.08596	0.4234278	0.0788457899259155	0.15800	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.63	-3.0	0.05148	0.859000	0.27513	-1.071000	0.06420	-0.195000	0.09104	1.000000	0.71638	0.001000	0.17328	0.974000	0.55675	0.0:0.192:0.1179:0.6902	6.801	0.22935	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003043	0.005155	0.001359	0.005848	0.000000	0.000000	0.003125	0.003817	0.02632	1498.33	35	chr10	132133457	.	C	T	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.215;DP=740;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.724;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	0	1	0
chr10	132225304	132225304	C	T	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318878:exon7:c.G844A:p.G282R,STK32C:NM_001318879:exon7:c.G454A:p.G152R,STK32C:NM_173575:exon7:c.G805A:p.G269R	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0603405634242	.	.	2.982e-05	0	0	0	0	5.392e-05	0	0	2.59e-05	4	154602	rs773677227	4.795e-06	4.788e-06	4.089e-06	5.509e-06	1.162e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	1.658e-05	1.162e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.521	0.20912	T	0.565	0.09795	T	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	D	0.000000	0.98031	0.39654	D	1.6	0.40776	L	-0.18	0.65747	T	-2.39	0.52612	N	0.387	0.44761	-0.4155	0.71535	T	0.353	0.71627	T	10	0.22359312	0.39141	T	0.060341	0.67969	D	0.283	0.60100	.	.	0.700740475711	0.69814	0.7958688989807313	0.79539	0.885177762926	0.69955	0.737490296364	0.72604	T	0.021481	0.16719	T	-0.0866186	0.38633	T	-0.254541	0.49367	T	0.675402045249939	0.39579	D	0.931207	0.74412	D	0.25202468	0.48215	0.17576051	0.40064	0.25202468	0.48215	0.17576051	0.40064	-13.168	0.90043	D	.	.	0.294	0.60810	B	.;.	.;.	4.147294	0.62187	24.4	0.76763468911026533	0.11599	0.76204	0.37357	D	AEFBI	0.350368	0.44384	N	0.0537106507432211	0.44314	2.707668	-0.0264795390073932	0.38523	2.270827	0.999999698300354	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.49	4.49	0.54177	2.321000	0.43465	7.357000	0.58325	0.549000	0.26987	0.131000	0.23362	1.000000	0.68203	0.173000	0.21076	0.0:0.8377:0.1623:0.0	13.024	0.58212	992	0.01359	.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1786.33	66	chr10	132225304	.	C	T	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=1269;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.232;SOR=0.676	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr10	132324355	132324355	G	C	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318881:exon2:c.C320G:p.P107R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	3.041e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768453958	3.989e-05	3.976e-05	7.009e-06	6.737e-05	0.0003	2.737e-05	2.312e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.86e-06	6.051e-05	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.05529532	0.06020	T	.	.	.	.	.	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	.	.	.	-0.5103	0.00500	T	-0.674595	0.07317	T	0.0229897766611267	0.01023	T	0.211379	0.02567	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17995	B	.	.	-1.407843	0.00354	0.006	0.37746838337563549	0.02505	0.00123	0.00769	N	AEFDBIJ	0.033569	0.04009	N	-1.060772695814	0.07377	0.3425444	-1.32655552718135	0.04090	0.1921962	0.999993228522661	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	1.24	-2.47	0.06070	-0.780000	0.04759	-3.282000	0.02909	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2734:0.0:0.4381:0.2886	2.977	0.05580	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	34	chr10	132324355	.	G	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.821;DP=725;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.21;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	0	1	0
chr10	132330350	132330350	T	C	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318883:exon2:c.A391G:p.I131V	.	420	1078	23	1	0	25	0.0114626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.002651	69	26028	rs190619910	0.0033	0.0030	0.0028	0.0038	0.0103	0.0032	0.0032	0.0097	0.0094	0.0002	0.0013	0.0082	3.186e-05	0.0008	0.0061	0.0027	0.0033	0.0103	0.0021	0.0021	0.0019	0.0023	0.0112	0.0019	0.0018	0.0088	0.0080	0.0002	0	0.0021	0.0064	0.0002	0.0008	0	0.0027	0.0043	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2654.33	43	chr10	132330350	.	T	C	2654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=945;ExcessHet=0;FS=2.438;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.693;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr10	132342260	132342260	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon3:c.C8T:p.P3L,LRRC27:NM_001143757:exon4:c.C389T:p.P130L,LRRC27:NM_001143758:exon4:c.C389T:p.P130L,LRRC27:NM_001143759:exon4:c.C389T:p.P130L,LRRC27:NM_030626:exon4:c.C389T:p.P130L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	.	.	0.00339457	0.0027	0	0.0006	0	0	0	0.0075	0.0087	0.0008667	134	154602	rs552504940	0.0005	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.674e-05	0	0.0002	1.025e-05	0.0007	0.0089	0.0004	0.0004	0.0003	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	0	0	0	0	0	0	0	1.47e-05	0	0.0125	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.97372	D	0.000932	0.41028	D	0.000000	0.99986	0.81001	D	1.905	0.50856	L	1.35	0.60734	T	-9.19	0.98237	D	0.788	0.86618	0.458	0.89943	D	0.682	0.89025	D	10	0.014656842	0.00308	T	.	.	.	0.407	0.71946	.	.	0.732832767634	0.73045	0.5917787117048532	0.59107	0.382340480175	0.39563	0.650352478027	0.60035	T	0.333732	0.70355	T	-0.152478	0.27923	T	0.0133261	0.71197	D	0.168352643941885	0.18468	T	0.944706	0.80311	D	0.7776035	0.82507	0.60362154	0.76964	0.7776035	0.82509	0.60362154	0.76965	-14.429	0.94723	D	.	.	0.910	0.83439	P	.;.;.;.;.	.;.;.;.;.	5.137801	0.86009	28.8	0.99841868533710865	0.92229	0.91319	0.53294	D	AEFBI	0.508977	0.53864	D	0.719223491739272	0.80892	7.396276	0.675732739274994	0.80542	7.321623	0.999844655312316	0.43971	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.76	4.76	0.60189	3.911000	0.56091	7.329000	0.58196	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.990	0.63874	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	797.33	31	chr10	132342260	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.079;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1054	18	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1460.79	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1460.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.114;DP=694;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=-0.422;SOR=0.72	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1083	17	0	2	0
chr10	132885150	132885150	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon27:c.G3580A:p.V1194M	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0060	0	0.0034	0	0	0	0	0.0124	0.0008021	124	154602	rs370936158	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	3.166e-05	2.801e-05	0	8.397e-05	0	0.0002	4.264e-05	0.0009	0.0148	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.404e-05	0	0	0	0	0	0	7.349e-05	0	0.0172	0.081	0.33418	T	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.88	0.10291	T	-1.18	0.30140	N	0.262	0.29659	-0.9543	0.40221	T	0.098	0.36651	T	6	0.0035399795	0.00063	T	.	.	.	0.015	0.02232	0.209	0.12639	0.0297737177859	0.01360	0.05964634386058227	0.05904	0.213363117002	0.23846	0.452046245337	0.32223	T	0.021079	0.16480	T	-0.622976	0.00105	T	-0.655962	0.08541	T	0.0253356605079103	0.01317	T	0.565643	0.19997	T	0.08455496	0.19577	0.09147287	0.21508	0.08455496	0.19576	0.09147287	0.21507	-5.804	0.44609	T	.	.	0.120	0.24901	B	.	.	0.140260	0.05343	1.829	0.98305817726434763	0.40097	0.02898	0.07690	N	AEFDBCI	0.025138	0.01669	N	-0.69076906649726	0.16283	0.8282427	-0.890878120728916	0.12309	0.6324448	0.0169875170747522	0.12898	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	-1.81	0.07456	-1.692000	0.02019	-6.642000	0.01344	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2191:0.1757:0.6052	6.953	0.23736	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1106.33	37	chr10	132885150	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.742;DP=777;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.326;SOR=0.376	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr10	132899074	132899074	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon24:c.G3104A:p.R1035Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.716717493715	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283309573	2.074e-05	2.052e-05	1.27e-05	2.9e-05	0.0003	1.455e-05	1.258e-05	0.0002	0.0002	3.165e-05	0	0	2.798e-05	0	0	4.634e-06	0	0.0003	2.627e-05	2.624e-05	0	5.372e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999868	0.19989	N	.	.	.	-1.08	0.77078	T	-3.17	0.64363	D	0.567	0.59053	-0.2622	0.76028	T	0.599	0.85709	D	8	0.7573656	0.76084	D	0.716717	0.97703	D	0.536	0.80545	0.47	0.54376	0.563246863647	0.55987	0.5142896103080931	0.51351	0.578139230769	0.53719	0.492080897093	0.37727	T	0.17409	0.52319	T	-0.0494003	0.44538	T	-0.0394368	0.67740	D	0.762440800666809	0.43992	D	0.864214	0.56114	D	0.44894224	0.63974	0.43209022	0.66805	0.44894224	0.63974	0.43209022	0.66805	-8.59	0.65023	D	.	.	0.178	0.38764	B	.	.	3.525519	0.49441	22.8	0.99929160527691641	0.99279	0.61323	0.31451	D	AEFBI	0.157291	0.28277	N	0.258513541309145	0.54061	3.57272	0.135344418461045	0.46371	2.884096	0.00574477476784552	0.11030	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.14	4.14	0.47821	2.294000	0.43227	5.654000	0.49193	0.599000	0.40250	0.330000	0.25589	0.904000	0.28019	0.535000	0.29822	0.0:1.0:0.0:0.0	11.928	0.52117	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	406.33	34	chr10	132899074	.	C	T	406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=647;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.46;SOR=1.148	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	18	0	1	0
chr10	132924727	132924727	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon11:c.G1225A:p.G409S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.029311339197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159250118	3.604e-06	9.577e-06	5.689e-06	1.461e-06	0.0004	1.06e-06	7.7e-07	6.606e-05	2.675e-05	3.273e-05	0	0	0	0	0.0004	0	0	2.548e-05	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.941	0.02191	T	0.86	0.03409	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.61	0.53516	T	0.2	0.04861	N	0.051	0.02272	-1.0043	0.28666	T	0.041	0.17827	T	6	0.105398476	0.19480	T	0.029311	0.51841	D	0.034	0.08419	0.242	0.17524	0.0551355673512	0.04727	0.05128063321860501	0.05070	0.108200635724	0.12199	0.369392096996	0.20745	T	0.002117	0.01518	T	-0.309942	0.07753	T	-0.682987	0.06803	T	0.0267276540453524	0.01505	T	0.325967	0.06723	T	0.024721337	0.01333	0.04600376	0.06317	0.024721337	0.01333	0.04600376	0.06316	-1.764	0.02404	T	.	.	0.069	0.03266	B	.	.	-0.024265	0.04119	0.975	0.54546213734184712	0.05159	0.00167	0.00991	N	AEFDBI	0.032677	0.03735	N	-0.895736915911074	0.10943	0.5255258	-1.03851346102758	0.08948	0.4425336	2.9953284144914E-4	0.06406	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.53	0.649	0.16979	0.698000	0.25249	0.114000	0.14823	-0.177000	0.10537	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2515:0.2197:0.5288	3.151	0.06098	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1360.33	40	chr10	132924727	.	C	T	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=760;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.466;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1120:.	18	0	1	0
chr10	133129347	133129347	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G1228A:p.G410R,ADGRA1:NM_001083909:exon7:c.G1519A:p.G507R	.	.	.	.	.	.	.	.	.	.	.	3237390	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0181295035843	.	.	6.365e-05	0	0	0.0010	0	0	0	0	2.59e-05	4	154602	rs748890339	1.048e-05	1.094e-05	1.387e-05	7.044e-06	9.196e-05	6.3e-06	4.99e-06	2.437e-05	1.275e-05	9.196e-05	0	0	5.301e-05	0	0	8.191e-06	0	1.206e-05	2.627e-05	2.626e-05	3.853e-05	1.345e-05	7.235e-05	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	1.47e-05	0	0	0.137	0.25979	T	0.017	0.60337	D	0.5	0.37145	P	0.179	0.35808	B	0.836954	0.09063	N	0.899723	1	0.08975	N	.	.	.	3.76	0.13916	T	-1.36	0.33798	N	0.042	0.03502	-1.0405	0.17162	T	0.021	0.09101	T	10	0.07022217	0.10186	T	0.01813	0.40089	T	0.074	0.21613	0.162	0.06618	0.043077524339	0.03247	0.28489463767761086	0.28402	0.490490125762	0.47770	0.740803360939	0.73091	T	0.078051	0.35799	T	-0.429698	0.01489	T	-0.599962	0.12816	T	0.11767765134573	0.14201	T	0.579842	0.20971	T	0.04710474	0.07998	0.14507586	0.34421	0.04710474	0.07997	0.14507586	0.34420	-4.376	0.29230	T	.	.	0.476	0.63471	A	.;.;.	.;.;.	1.678264	0.21391	15.18	0.97378305404264021	0.33656	0.42204	0.26826	N	AEFDBI	0.211881	0.33762	N	-0.274040743238005	0.30153	1.678739	-0.289936641615558	0.28428	1.585074	0.301738726576346	0.19196	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.33	3.35	0.37468	1.294000	0.32971	6.160000	0.54327	-0.182000	0.10109	0.269000	0.25036	1.000000	0.68203	0.001000	0.02609	0.0:0.2964:0.7036:0.0	11.491	0.49631	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1698.33	33	chr10	133129347	.	G	A	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=975;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.328;SOR=0.404	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr10	133167414	133167414	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347864:exon2:c.C136T:p.R46W,KNDC1:NM_001347865:exon2:c.C136T:p.R46W,KNDC1:NM_001347866:exon2:c.C136T:p.R46W,KNDC1:NM_152643:exon2:c.C136T:p.R46W	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	0.0057	0.00159744	0.0113	0.0028	0.0079	0	0.0308	0.0174	0.0157	0.0015	0.0057826	894	154602	rs145440398	0.0097	0.0097	0.0100	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0014	0.0034	0.0028	2.552e-05	0.0139	0.0010	0.0114	0.0074	0.0009	0.0067	0.0067	0.0067	0.0067	0.0106	0.0064	0.0062	0.0100	0.0097	0.0021	0.0022	0.0027	0.0029	0.0004	0.0138	0	0.0106	0.0052	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000273	0.46590	D	0.000000	0.992497	0.81001	D	.	.	.	1.57	0.29342	T	-5.65	0.86988	D	0.8	0.79599	-0.8622	0.51104	T	0.128	0.43585	T	10	0.01328823	0.00282	T	.	.	.	0.391	0.70684	.	.	0.364342057095	0.36045	0.8020639365443952	0.80160	0.662220872805	0.58961	0.863450467587	0.91619	D	0.522209	0.83312	D	-0.252946	0.13739	T	-0.124439	0.61435	T	0.0252181224863887	0.01302	T	0.942106	0.78341	D	0.75923353	0.81408	0.5774754	0.75517	0.75923353	0.81409	0.5774754	0.75518	-9.268	0.69406	D	.	.	0.528	0.65820	A	.	.	4.296847	0.65572	24.8	0.9989521313216736	0.96819	0.93995	0.59797	D	AEFDBIJ	0.623685	0.60754	D	0.364838542316216	0.59526	4.132898	0.237089382617845	0.51918	3.370348	0.998920554403203	0.37985	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.05	3.1	0.34780	3.663000	0.54256	1.271000	0.25291	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.1929:0.8071:0.0:0.0	10.704	0.45143	994	0.00715	KIND domain|KIND domain|KIND domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1379.33	39	chr10	133167414	.	C	T	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=763;ExcessHet=0;FS=2.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.874;SOR=0.481	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1294	18	0	1	0
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.07895	2021.79	40	chr10	133240280	.	A	G	2021.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.584;DP=742;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.655;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	16	0	3	0
chr10	133270502	133270503	AT	-	exonic	ADAM8	.	frameshift deletion	ADAM8:NM_001164490:exon15:c.1525_1526del:p.M509Vfs*35,ADAM8:NM_001109:exon16:c.1642_1643del:p.M548Vfs*35,ADAM8:NM_001164489:exon16:c.1642_1643del:p.M548Vfs*35	.	415	1092	15	0	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0025	0.0012	0.0008	0.0022	0.0005	0.0038	0.0023	0.0005	0.0003842	10	26028	rs375995290	0.0025	0.0025	0.0025	0.0025	0.0061	0.0024	0.0024	0.0045	0.0039	0.0011	0.0012	0.0144	0.0010	0.0006	0.0061	0.0025	0.0032	0.0007	0.0026	0.0026	0.0028	0.0023	0.0032	0.0024	0.0023	0.0029	0.0027	0.0011	0.0186	0.0023	0.0127	0.0025	0.0007	0.0102	0.0032	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.008152	0.014620	0.000000	0.000000	0.000000	0.000000	0.05263	1936.77	37	chr10	133270501	.	CAT	C	1936.77	.	AC=2;AF=0.053;AN=38;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.15;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	18	1	0	0
chr10	133288244	133288244	T	C	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon10:c.A1217G:p.E406G,TUBGCP2:NM_006659:exon11:c.A1607G:p.E536G,TUBGCP2:NM_001256617:exon12:c.A1691G:p.E564G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0126306289411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.38633	T	0.007	0.70582	D	0.91	0.50240	P	0.737	0.55577	P	0.000001	0.62929	D	0.097855	1	0.81001	D	1.77	0.45869	L	3.05	0.08721	T	-5.34	0.84674	D	0.736	0.73645	-1.0881	0.05856	T	0.039	0.16935	T	10	0.7917952	0.78725	D	0.012631	0.31371	T	0.313	0.63482	0.576	0.70087	0.448794319169	0.44501	0.6088015693911547	0.60812	0.943014675479	0.72284	0.640417218208	0.58623	T	0.25217	0.62252	T	0.0439231	0.57556	T	-0.174684	0.57013	T	0.975051522254944	0.70768	D	0.940606	0.79065	D	0.44693372	0.63847	0.4441107	0.67604	0.44693372	0.63848	0.4441107	0.67604	-8.958	0.72669	D	.	.	0.145	0.37274	B	.;.;.;.;.	.;.;.;.;.	5.288994	0.88801	29.7	0.99881096374740541	0.95733	0.97991	0.78693	D	AEFDBI	0.937536	0.93546	D	0.437847861649418	0.63519	4.586949	0.486016368314609	0.67061	5.034077	0.999985884301302	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.769000	0.84183	7.719000	0.67224	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	14.440	0.66884	991	0.01385	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	33	chr10	133288244	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.728;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.61;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	18	0	1	0
chr10	133292668	133292668	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon7:c.G655A:p.E219K,TUBGCP2:NM_006659:exon8:c.G1045A:p.E349K,TUBGCP2:NM_001256617:exon9:c.G1129A:p.E377K	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0158232675575	0.0002	0.00159744	0.0012	0	0.0099	0	0	0.0003	0	0.0004	0.0009896	153	154602	rs145003131	0.0005	0.0005	0.0005	0.0005	0.0069	0.0005	0.0005	0.0062	0.0060	0.0002	0.0069	0.0002	0	0	0.0025	0.0003	0.0006	0.0003	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0018	0.0016	9.62e-05	0	0.0024	0	0	0	0	0.0002	0.0019	0.0004	0.433	0.09836	T	0.804	0.06713	T	0.66	0.40908	P	0.121	0.32300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	3.15	0.07820	T	-1.1	0.28497	N	0.799	0.83371	-1.0260	0.21756	T	0.010	0.03627	T	10	0.012980908	0.00277	T	0.015823	0.36761	T	0.317	0.63904	.	.	0.347217280506	0.34334	0.41263179258684834	0.41179	0.458049767139	0.45429	0.663874387741	0.61963	T	0.06919	0.33648	T	-0.159307	0.26868	T	0.00309596	0.70537	D	0.0821259119315494	0.10257	T	0.956054	0.83312	D	0.2971975	0.52651	0.20742363	0.45001	0.2971975	0.52651	0.20742363	0.45000	-8.51	0.64495	D	.	.	0.153	0.34094	B	.;.;.;.	.;.;.;.	3.456181	0.48149	22.6	0.99798880501898068	0.88372	0.98639	0.85009	D	AEFBI	0.921501	0.89508	D	-0.144054163683146	0.35489	2.039057	-0.026318004567047	0.38530	2.271355	0.999999999999383	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.87	4.87	0.62877	7.683000	0.83394	7.558000	0.60417	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:1.0:0.0:0.0	16.976	0.86185	991	0.01385	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	950.33	35	chr10	133292668	.	C	T	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.111;SOR=0.59	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr10	133312864	133312864	T	C	exonic	ZNF511	.	stoploss	ZNF511:NM_145806:exon6:c.T757C:p.X253R	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs367741436	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19238	N	.	.	.	.	.	.	.	.	.	0	0.00001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.215789	0.18571	T	-0.532256	0.19062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.483565	0.19096	14.09	0.77978945852916082	0.12104	0.76018	0.37252	D	AEFBI	.	.	.	0.445605792428795	0.63954	4.639	0.11610572345112	0.45372	2.801547	0.0700980009188261	0.15514	0.322412	0.05557	0	0.31918	0.05746	0	0.343423	0.05949	0	0.322829	0.05601	0	0.280121	0.34055	4.42	1.76	0.23776	1.768000	0.38141	3.434000	0.38335	0.665000	0.62972	0.916000	0.31843	0.999000	0.35428	0.009000	0.08673	0.1985:0.0:0.2059:0.5956	4.484	0.11194	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	950.33	33	chr10	133312864	.	T	C	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.501;DP=708;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.549;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr10	133352030	133352030	A	T	exonic	PRAP1	.	nonsynonymous SNV	PRAP1:NM_001145201:exon4:c.A152T:p.E51V,PRAP1:NM_145202:exon4:c.A152T:p.E51V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0247723528381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.99	0.63424	D	0.844	0.60373	P	0.724843	0.06335	N	1.212120	1	0.08975	N	1.585	0.39878	L	1.19	0.37578	T	-5.36	0.84811	D	0.386	0.43610	-0.9836	0.34164	T	0.137	0.45413	T	10	0.23150074	0.40125	T	0.024772	0.47756	T	0.114	0.32008	0.275	0.22687	0.32980341726	0.32591	0.31151180261656813	0.31064	0.379746466743	0.39358	.	.	.	0.104317	0.41377	T	-0.0960816	0.37072	T	-0.375791	0.36215	T	0.547278761863708	0.34375	D	0.486851	0.14885	T	0.18460125	0.39783	0.18865003	0.42167	0.18460125	0.39782	0.18865003	0.42166	-2.789	0.08082	T	.	.	0.216	0.44579	B	.;.	.;.	2.170928	0.27664	17.54	0.98592351932325073	0.43388	0.02707	0.07358	N	AEFDBHI	0.343767	0.43947	N	-0.525283480944938	0.21265	1.127255	-0.726668349627865	0.16298	0.8615145	0.958640518226077	0.28375	0.696267	0.57585	0	0.514364	0.08380	0	0.691665	0.62940	0	0.599892	0.37169	0	.	.	3.07	1.9	0.24770	0.180000	0.16672	0.743000	0.21176	-0.095000	0.16041	0.000000	0.06391	0.003000	0.18671	0.020000	0.11549	0.7426:0.2574:0.0:0.0	6.296	0.20295	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3883.81	39	chr10	133352030	.	A	T	3883.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.58;SOR=1.046	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	1	0	0
chr10	133352285	133352285	C	T	exonic	PRAP1	.	nonsynonymous SNV	PRAP1:NM_001145201:exon5:c.C274T:p.H92Y,PRAP1:NM_145202:exon5:c.C301T:p.H101Y	.	.	.	.	.	.	.	.	.	.	.	3584430	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0110125085597	.	.	7.442e-05	9.634e-05	0.0002	0	0	3.015e-05	0.0011	0.0002	5.82e-05	9	154602	rs753881367	4.039e-05	4.104e-05	2.452e-05	5.642e-05	0.0003	3.181e-05	2.912e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	2.608e-05	4.969e-05	0.0003	6.574e-05	6.567e-05	6.427e-05	6.728e-05	0.0002	3.518e-05	2.617e-05	7.899e-05	5.592e-05	0.0002	0	0	0	0	0	0	2.941e-05	0	0.0002	0.027	0.46513	D	0.035	0.52389	D	0.118	0.26577	B	0.041	0.23986	B	0.046549	0.01961	N	2.450000	1	0.08975	N	1.385	0.34509	L	1.46	0.32238	T	-3.98	0.73788	D	0.165	0.21056	-1.0029	0.29080	T	0.073	0.29483	T	10	0.06151882	0.07724	T	0.011013	0.28187	T	0.031	0.07369	0.174	0.08014	0.0138822411134	0.00435	0.03892594964984804	0.03838	0.231157508262	0.25661	.	.	.	0.070344	0.33936	T	-0.469775	0.00853	T	-0.59061	0.13612	T	0.0427271749100674	0.04187	T	0.218978	0.04257	T	0.10851248	0.25656	0.11313174	0.27300	0.10851248	0.25656	0.11313174	0.27300	-4.067	0.24802	T	.	.	0.116	0.23255	B	.;.	.;.	0.039380	0.04562	1.246	0.99301481306921979	0.58650	0.01298	0.04511	N	AEFBI	0.331728	0.43136	N	-0.774383149769949	0.13980	0.6927635	-0.872232423214257	0.12754	0.6578905	0.59743433361869	0.21697	0.696267	0.57585	0	0.550933	0.16991	0	0.691665	0.62940	0	0.645665	0.59343	0	.	.	2.87	1.95	0.25130	-0.239000	0.08983	-0.339000	0.09830	-0.200000	0.08971	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7414:0.2585:0.0	7.804	0.28357	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2342.33	39	chr10	133352285	.	C	T	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.003;DP=1064;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.417;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800:.	18	0	1	0
chr10	133389673	133389673	G	A	exonic	PAOX	.	nonsynonymous SNV	PAOX:NM_152911:exon6:c.G1318A:p.V440M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.420971691114	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1432957559	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.094	0.39645	T	0.994	0.66517	D	0.831	0.59664	P	0.000525	0.43581	D	0.193982	0.931718	0.81001	D	.	.	.	-3.1	0.92667	D	-1.49	0.36385	N	0.514	0.54496	0.646	0.92488	D	0.797	0.93135	D	10	0.6557029	0.69861	D	0.420972	0.93792	D	0.618	0.85144	0.556	0.67409	0.899491837321	0.89849	0.5731453866222057	0.57242	0.700501834841	0.61099	0.819872617722	0.85008	D	.	.	.	0.134731	0.67820	D	-0.0442447	0.67414	D	0.84324985742569	0.49594	D	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.51566	B	.	.	4.226949	0.63974	24.6	0.99869333206504052	0.94726	0.81325	0.40752	D	AEFDGBHI	0.200855	0.32755	N	0.482813450490558	0.66088	4.904944	0.449493017833526	0.64683	4.729335	0.999999997499933	0.74766	0.700653	0.57754	0	0.52208	0.09955	0	0.717052	0.78885	0	0.550183	0.17644	0	.	.	5.18	4.28	0.50183	0.906000	0.28140	5.865000	0.50473	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.808000	0.38083	0.0855:0.0:0.9145:0.0	11.795	0.51365	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	408.33	34	chr10	133389673	.	G	A	408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=670;ExcessHet=0;FS=1.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.342;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,904	18	0	1	0
chr10	133532153	133532153	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon4:c.G517A:p.G173S	.	423	1054	41	4	0	49	0.0227167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0016	0.00219649	0.0035	0.0004	0.0013	0.0002	0.0005	0.0023	0.0044	0.0149	0.0031759	491	154602	rs60452492	0.0025	0.0025	0.0021	0.0029	0.0154	0.0024	0.0024	0.0147	0.0144	0.0002	0.0011	0.0080	0.0002	0.0005	0.0090	0.0016	0.0031	0.0154	0.0016	0.0016	0.0014	0.0018	0.0146	0.0015	0.0014	0.0118	0.0108	0.0005	0	0.0018	0.0075	0	0.0004	0.0034	0.0014	0.0019	0.0146	0.755	0.06145	T	0.773	0.06643	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.166180	0.791814	0.81001	D	1.07	0.27075	L	-0.22	0.66474	T	-2.8	0.65397	D	0.061	0.03283	-0.7936	0.55520	T	0.201	0.55737	T	10	0.007817626	0.00177	T	.	.	.	0.280	0.59740	.	.	0.709176414936	0.70664	0.5636643323569762	0.56293	1.0264605321	0.75294	0.411144316196	0.26615	T	0.390271	0.75049	T	-0.423312	0.01630	T	-0.369159	0.36987	T	0.0578869794120568	0.06831	T	0.872413	0.59112	D	0.50080454	0.67142	0.23776327	0.49082	0.50080454	0.67143	0.23776327	0.49081	-5.062	0.37505	T	.	.	0.188	0.44986	B	.;.;.;.	.;.;.;.	2.884045	0.38170	20.7	0.99060141632020249	0.51459	0.68786	0.33935	D	AEFDBI	0.825157	0.74490	D	0.0103509905861311	0.42325	2.548068	-0.0130856296977882	0.39122	2.314954	0.999433092208	0.39683	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.59	4.59	0.56297	3.226000	0.50956	3.498000	0.38759	0.674000	0.70861	0.583000	0.27610	1.000000	0.68203	0.004000	0.06068	0.0982:0.0:0.9018:0.0	8.844	0.34318	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.002717	0.000000	0.000000	0.017241	0.009146	0.030303	0.02632	1297.33	33	chr10	133532153	.	G	A	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.138;DP=767;ExcessHet=0;FS=2.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.397;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	18	0	1	0
chr10	133533792	133533792	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon6:c.G862A:p.G288S	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	0.00379393	0.0028	0	0.0003	0.0001	0	1.499e-05	0.0055	0.0202	0.0024385	377	154602	rs61710826	0.0013	0.0013	0.0008	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	0	0	0	7.557e-05	0	0.0003	2.968e-05	0.0018	0.0203	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0207	0.105	0.30375	T	0.062	0.45318	T	0.945	0.53279	P	0.613	0.51171	P	0.006757	0.31824	N	0.386253	1	0.08975	N	-0.175	0.04276	N	-0.27	0.67367	T	1.05	0.01488	N	0.054	0.02559	-0.9304	0.44080	T	0.158	0.49027	T	10	0.0065504014	0.00148	T	.	.	.	0.168	0.42943	0.608	0.74063	0.641048165634	0.63808	0.1800232113540086	0.17921	0.369890665842	0.38515	0.394802570343	0.24343	T	0.03004	0.21388	T	-0.506787	0.00523	T	-0.485145	0.23901	T	0.0342855437364483	0.02686	T	0.694731	0.30434	T	0.0960666	0.22621	0.056927457	0.10258	0.0960666	0.22621	0.056927457	0.10257	-1.309	0.01416	T	.	.	0.117	0.23848	B	.;.;.;.	.;.;.;.	0.785912	0.11562	8.156	0.83700415288107233	0.14871	0.00089	0.00592	N	AEFDBI	0.283815	0.39683	N	-0.711938346470966	0.15686	0.7926656	-0.835004165390488	0.13647	0.7091577	0.0191091762678123	0.13129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.96	1.35	0.21078	0.584000	0.23565	4.429000	0.43344	-0.279000	0.06446	0.000000	0.06391	0.467000	0.25033	0.001000	0.02609	0.7393:0.0:0.2607:0.0	6.674	0.22275	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	4696.81	39	chr10	133533792	.	G	A	4696.81	.	AC=2;AF=0.053;AN=38;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=0.85	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	1	0	0
chr10	133565522	133565522	C	A	exonic	SYCE1	.	nonsynonymous SNV	SYCE1:NM_001143763:exon1:c.G8T:p.G3V,SYCE1:NM_001143764:exon1:c.G8T:p.G3V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00239171728087	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343382649	7.155e-07	1.368e-06	1.412e-06	0	9.27e-07	0	0	.	.	0	0	0	0	0	0	9.27e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.39334	T	0.112	0.40426	T	0.176	0.28893	B	0.125	0.32635	B	.	.	.	.	0.999998	0.08975	N	1.95	0.52479	M	1.47	0.31987	T	-0.85	0.23156	N	0.208	0.23125	-1.0104	0.26791	T	0.036	0.15465	T	9	0.06565422	0.08889	T	0.002392	0.04673	T	0.027	0.05988	0.131	0.03577	0.373715746628	0.36985	0.1202851110907973	0.11955	0.34022045831	0.35964	0.667739272118	0.62516	T	0.017251	0.27912	T	-0.165011	0.25991	T	-0.474803	0.25001	T	0.0909030921086669	0.11325	T	0.577542	0.20782	T	0.056708474	0.11194	0.114643626	0.27673	0.056708474	0.11194	0.114643626	0.27672	-4.277	0.27853	T	.	.	0.203	0.49383	B	.;.	.;.	1.767243	0.22475	15.64	0.94765093581854631	0.25480	0.01842	0.05707	N	AEFDBI	0.046325	0.07681	N	-1.08559276226362	0.06908	0.3193659	-1.18225492218793	0.06205	0.2979987	1.04869633470559E-4	0.05123	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.39	0.387	0.15484	0.320000	0.19288	0.281000	0.16766	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3737:0.6263:0.0:0.0	4.605	0.11765	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	494.33	34	chr10	133565522	.	C	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.476;DP=690;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=0.579;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	18	0	1	0
chr11	198231	198231	G	A	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon4:c.G343A:p.V115M,ODF3:NM_053280:exon4:c.G343A:p.V115M	.	424	1087	9	2	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0146208026472	0.0002	0.000399361	0.0003	0.0003	0.0002	0	0	0.0002	0.0035	0.0013	0.0002975	46	154602	rs142184660	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0014	0.0005	8.946e-05	0	2.519e-05	0	0.0026	0.0001	0.0004	0.0017	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	7.351e-05	0	0.0010	0.22	0.21550	T	0.257	0.23231	T	0.814	0.45487	P	0.162	0.34839	B	0.012066	0.29301	N	0.154112	0.999523	0.47407	D	0.695	0.17993	N	1.51	0.30937	T	-0.87	0.25770	N	0.222	0.30004	-1.0833	0.06720	T	0.034	0.14683	T	10	0.012446582	0.00267	T	0.014621	0.34856	T	0.029	0.06676	.	.	0.221890330934	0.21812	0.42164403952584345	0.42080	0.235603024687	0.26090	0.584132671356	0.50668	T	0.009567	0.08705	T	-0.549754	0.00293	T	-0.587088	0.13920	T	0.00196405383758247	0.00020	T	0.730627	0.34608	T	0.03826866	0.05067	0.059195966	0.11068	0.03826866	0.05066	0.059195966	0.11068	-5.792	0.44505	T	.	.	0.210	0.43788	B	.;.	.;.	2.433867	0.31314	18.70	0.95457931125752282	0.26987	0.12553	0.17339	N	AEFDBI	0.062097	0.11915	N	-0.565781415577253	0.19991	1.050596	-0.576394602262108	0.20109	1.081946	0.370688425995673	0.19867	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.74	1.62	0.22817	1.175000	0.31553	4.083000	0.41752	-0.208000	0.08445	0.013000	0.18845	1.000000	0.68203	0.149000	0.20271	0.1971:0.1762:0.6267:0.0	4.806	0.12688	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2881.33	36	chr11	198231	.	G	A	2881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.211;DP=881;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.067;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	18	0	1	0
chr11	205628	205628	G	A	exonic	BET1L	.	nonsynonymous SNV	BET1L:NM_001098787:exon3:c.C151T:p.R51W,BET1L:NM_016526:exon3:c.C151T:p.R51W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0250722591224	.	.	4.153e-05	0	0	0	0	1.513e-05	0	0.0002	3.23e-05	5	154602	rs760787307	2.532e-05	2.531e-05	2.315e-05	2.752e-05	0.0002	1.868e-05	1.631e-05	0.0001	8.646e-05	2.988e-05	2.237e-05	0	0	0	0	1.709e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.004	0.74150	D	0.231	0.68779	B	0.026	0.56482	B	0.016274	0.28022	N	0.413227	0.999895	0.81001	D	2.05	0.56469	M	.	.	.	-4.77	0.86527	D	0.619	0.63883	-0.5531	0.66669	T	0.266	0.63781	T	9	0.23299381	0.40307	T	0.025072	0.48051	D	0.081	0.23632	0.276	0.22845	0.489311470972	0.48562	0.7054115455747015	0.70483	0.517804415941	0.49640	0.410328149796	0.26501	T	0.228498	0.73912	T	-0.276898	0.11000	T	-0.343373	0.39964	T	0.576661578999687	0.35490	D	0.960204	0.88252	D	0.28324726	0.51358	0.39570746	0.64231	0.28324726	0.51358	0.39570746	0.64231	-12.175	0.85693	D	.	.	0.555	0.67004	A	.;.;.;.;.	.;.;.;.;.	5.840236	0.93776	33	0.99913716246635942	0.98238	0.93336	0.57944	D	AEFDBCI	0.585804	0.58409	D	0.242766953603036	0.53283	3.497802	0.272419987135567	0.53934	3.560213	0.99999996483596	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.07	4.15	0.47978	2.083000	0.41239	8.505000	0.77371	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.997000	0.79791	0.0819:0.0:0.7593:0.1587	7.943	0.29133	774	0.48577	Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	34	chr11	205628	.	G	A	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=715;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=1.38;SOR=1.149	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	18	0	1	0
chr11	205951	205951	C	A	splicing	BET1L	NM_001098787:exon2:c.111+1G>T;NM_016526:exon2:c.111+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384941	0.89024	D	0.315165	0.88885	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.879982	0.95860	35	0.99479086289103591	0.66795	0.97679	0.76359	D	AEFBCI	.	.	.	1.09496756829994	0.98040	17.29303	0.913442724670422	0.96132	14.33832	0.999999999999938	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.121787	0.03316	0	0.119812	0.03901	0	0.992938	0.99924	4.17	4.17	0.48303	7.209000	0.77424	7.421000	0.58716	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.743	0.85324	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	45	chr11	205951	.	C	A	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=809;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.55;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1476	18	0	1	0
chr11	280345	280345	-	G	exonic	NLRP6	.	frameshift insertion	NLRP6:NM_001276700:exon4:c.612dupG:p.I206Hfs*46,NLRP6:NM_138329:exon4:c.612dupG:p.I206Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1791.29	34	chr11	280345	.	C	CG	1791.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.406;SOR=0.678	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr11	281289	281289	C	A	exonic	NLRP6	.	nonsynonymous SNV	NLRP6:NM_001276700:exon4:c.C1555A:p.P519T,NLRP6:NM_138329:exon4:c.C1555A:p.P519T	.	.	.	.	.	.	.	.	.	.	.	712776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0102	0.0091853	0.0026	0.0287	0.0013	0	0	0.0002	0	0	0.0025226	390	154602	rs78244878	0.0010	0.0010	0.0012	0.0008	0.0337	0.0010	0.0009	0.0320	0.0314	0.0337	0.0016	3.85e-05	0	0	0.0017	8.743e-05	0.0024	5.81e-05	0.0087	0.0088	0.0090	0.0085	0.0303	0.0084	0.0082	0.0289	0.0284	0.0303	0	0.0029	0	0	0	0.0034	0.0001	0.0076	0	0.538	0.06847	T	0.129	0.34837	T	0.952	0.54136	P	0.521	0.48239	P	0.037696	0.24371	N	0.207171	1	0.08975	N	.	.	.	-0.89	0.74793	T	-1.24	0.31375	N	0.092	0.07125	-0.9139	0.46364	T	0.087	0.33690	T	10	0.0034913123	0.00062	T	.	.	.	0.111	0.31313	.	.	0.0401082797425	0.02173	0.44754285222305673	0.44672	.	.	0.43753772974	0.30241	T	0.035732	0.23831	T	-0.492059	0.00633	T	-0.455211	0.27122	T	0.00165611188724756	0.00017	T	0.526147	0.17328	T	0.045213822	0.07362	0.057288848	0.10388	0.045213822	0.07362	0.057288848	0.10387	-4.715	0.33585	T	.	.	0.085	0.10062	B	.;.	.;.	0.377701	0.07500	4.140	0.58157116381702623	0.05929	0.12946	0.17574	N	AEFDGBCIJ	0.079839	0.16132	N	-0.788129574521012	0.13619	0.672212	-0.925649077436142	0.11489	0.5856338	0.999991451941232	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.576033	0.28219	0	0.620976	0.48614	0	.	.	3.26	1.35	0.21078	-0.590000	0.05854	-0.108000	0.11862	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8013:0.0:0.1987	7.833	0.28515	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1344.33	37	chr11	281289	.	C	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.007;SOR=0.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	285188	285188	G	A	exonic	NLRP6	.	nonsynonymous SNV	NLRP6:NM_001276700:exon8:c.G2560A:p.E854K,NLRP6:NM_138329:exon8:c.G2563A:p.E855K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0175045878038	0.0007	0.00179712	0.0014	0.0027	0	0	0	0.0005	0	0.0040	0.0005563	86	154602	rs138624921	0.0004	0.0004	0.0003	0.0005	0.0026	0.0004	0.0004	0.0023	0.0022	0.0011	0.0002	3.893e-05	0.0001	0	0.0003	0.0002	0.0006	0.0026	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0002	0	0	0	0	0.0002	0	0.0019	0.393	0.10730	T	0.245	0.24193	T	0.046	0.21875	B	0.005	0.11217	B	.	.	.	.	0.999998	0.08975	N	.	.	.	0.62	0.53302	T	-0.69	0.20791	N	0.38	0.42149	-1.0370	0.18233	T	0.076	0.30366	T	9	0.0043713152	0.00089	T	0.017505	0.39237	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.26124996429859315	0.26037	.	.	0.424424618483	0.28445	T	0.036237	0.24027	T	-0.500774	0.00566	T	-0.496094	0.22753	T	0.00203672736295604	0.00021	T	0.681532	0.29028	T	0.035001133	0.04038	0.058982365	0.10991	0.035001133	0.04037	0.058982365	0.10991	-5.696	0.43658	T	.	.	0.089	0.12181	B	.;.	.;.	1.562521	0.20012	14.55	0.90002518182087421	0.19293	0.03359	0.08450	N	AEFBI	0.094016	0.19016	N	-0.88894946912281	0.11105	0.5341075	-0.94222486462289	0.11105	0.563661	0.999669714785935	0.41534	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	2.17	1.24	0.20416	1.017000	0.29591	0.953000	0.22937	0.654000	0.53741	0.001000	0.13787	0.039000	0.21534	0.035000	0.13729	0.1635:0.2711:0.5654:0.0	3.458	0.07092	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002024	0.010309	0.000000	0.005882	0.000000	0.000000	0.003067	0.000000	0.02632	783.33	34	chr11	285188	.	G	A	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=717;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.66;SOR=0.861	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1338	18	0	1	0
chr11	299387	299387	T	G	exonic	IFITM5	.	nonsynonymous SNV	IFITM5:NM_001025295:exon1:c.A104C:p.D35A	Osteogenesis imperfecta, type V, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.860	0.583205959176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011303178	2.097e-06	2.052e-06	1.387e-06	2.818e-06	2.733e-06	5.6e-07	1.6e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.733e-06	0	0	6.578e-06	6.569e-06	0	1.346e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	3.65	0.94181	H	-2.49	0.89145	D	-7.58	0.95276	D	0.91	0.91162	0.858	0.95131	D	0.833	0.94390	D	10	0.9908117	0.99594	D	0.583206	0.96272	D	0.860	0.95728	0.88	0.96835	0.657158037913	0.65429	0.8468084925308526	0.84641	0.0832408400961	0.09385	0.763398885727	0.76436	T	0.884213	0.97597	D	0.432119	0.91641	D	0.382932	0.91536	D	0.999246120452881	0.96675	D	0.906909	0.67118	D	0.9401824	0.95266	0.8786777	0.93469	0.9401824	0.95267	0.8786777	0.93469	-12.894	0.88921	D	0.4982099202291042	0.57387	0.894	0.82343	P	.	.	4.044838	0.59904	24.2	0.99203283758759186	0.55351	0.99244	0.93355	D	AEFBI	0.804187	0.72912	D	0.485160182569938	0.66222	4.922454	0.303413583548763	0.55739	3.736837	0.999999750506678	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.562822	0.20929	0	.	.	4.48	4.48	0.53973	6.645000	0.74198	5.959000	0.51789	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.368000	0.26066	0.0:0.0:0.0:1.0	12.965	0.57880	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	34	chr11	299387	.	T	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=872;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.092;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,56:120:99:0|1:299387_T_G:1485,0,1619:299387	18	0	1	0
chr11	381754	381754	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon20:c.G3082A:p.V1028I	.	425	1085	11	1	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0219798660652	0.0030	0.00219649	0.0012	0.0090	0.0003	0	0	0.0006	0.0013	0.0007	0.0010479	162	154602	rs75988367	0.0007	0.0007	0.0008	0.0007	0.0088	0.0007	0.0007	0.0079	0.0076	0.0088	0.0009	4.002e-05	2.664e-05	1.93e-05	0.0051	0.0005	0.0011	0.0005	0.0029	0.0029	0.0026	0.0032	0.0085	0.0027	0.0026	0.0078	0.0075	0.0085	0	0.0023	0	0.0002	0	0	0.0006	0.0052	0.0002	0.293	0.14843	T	0.126	0.35205	T	0.122	0.26746	B	0.094	0.30180	B	0.257149	0.15389	N	0.648009	1	0.08975	N	1.1	0.28011	L	1.35	0.34648	T	-0.46	0.14978	N	0.065	0.03726	-1.0697	0.09479	T	0.035	0.15291	T	10	0.0053814948	0.00118	T	0.02198	0.44819	T	0.027	0.05988	.	.	0.20808081866	0.20439	0.5216965126755625	0.52092	0.804745380727	0.66415	0.398209512234	0.24819	T	0.002254	0.01652	T	-0.672709	0.00053	T	-0.732112	0.04232	T	0.00295371072879918	0.00031	T	0.59944	0.22338	T	0.032634176	0.03325	0.026427016	0.00731	0.032634176	0.03325	0.026427016	0.00731	-6.898	0.53284	T	.	.	0.088	0.11654	B	.	.	0.030496	0.04496	1.204	0.91958973615444606	0.21288	0.00906	0.03544	N	AEFDBI	0.035524	0.04588	N	-1.22271384835504	0.04672	0.2113558	-1.3812405962459	0.03452	0.161047	0.945067968469827	0.27644	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.92	-7.02	0.01433	-0.968000	0.03928	-1.810000	0.04685	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.114000	0.18915	0.6304:0.0934:0.1825:0.0937	5.397	0.15577	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.005051	0.005435	0.008772	0.000000	0.008621	0.000000	0.011364	0.02632	1777.33	42	chr11	381754	.	G	A	1777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=797;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.956;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1264	18	0	1	0
chr11	392709	392709	G	A	splicing	PKP3	NM_001303029:exon1:c.81+1G>A	.	.	.	.	.	.	.	.	.	.	0.0038	0.034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395431487	3.529e-06	3.42e-06	1.732e-06	5.395e-06	4.351e-06	8.3e-07	5.6e-07	1.02e-06	6.9e-07	0	0	0	0	0	0	4.351e-06	0	0	1.316e-05	1.314e-05	2.572e-05	0	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.044054	0.25985	16.96	0.97101987782689225	0.32370	0.40931	0.26545	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999959723987921	0.48110	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.126563	0.25334	3.11	3.11	0.34883	0.601000	0.23818	10.753000	0.83682	0.558000	0.28311	0.034000	0.20669	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	11.383	0.49013	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	509.33	33	chr11	392709	.	G	A	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=620;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.127;SOR=0.368	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	0	1	0
chr11	400024	400024	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon6:c.C1331T:p.T444M,PKP3:NM_001303029:exon7:c.C1376T:p.T459M	.	423	1079	19	1	0	21	0.00963745	.	.	.	3886627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.243	.	0.0074	0.0071885	0.0101	0.0038	0.0096	0	0.0161	0.0125	0.0172	0.0080	0.0074061	1145	154602	rs151201080	0.0096	0.0096	0.0098	0.0095	0.0130	0.0095	0.0095	0.0104	0.0104	0.0018	0.0077	0.0041	0	0.0119	0.0130	0.0106	0.0094	0.0061	0.0074	0.0074	0.0075	0.0072	0.0109	0.0070	0.0069	0.0103	0.0100	0.0019	0.0033	0.0093	0.0055	0.0002	0.0092	0.0034	0.0109	0.0090	0.0037	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.925	0.65999	D	0.000016	0.62929	U	0.066416	0.99842	0.44899	D	1.955	0.52871	M	0.78	0.49358	T	-2.24	0.50175	N	0.778	0.77507	-0.6833	0.61220	T	0.136	0.45164	T	10	0.009129167	0.00206	T	.	.	.	0.243	0.54921	.	.	0.727257869051	0.72483	0.5972029706985712	0.59651	0.419819143065	0.42524	0.769279301167	0.77316	T	0.258324	0.62947	T	-0.358292	0.04227	T	-0.279476	0.46858	T	0.0186109962534885	0.00575	T	0.919808	0.70989	D	0.18480209	0.39812	0.21133934	0.45558	0.18480209	0.39811	0.21133934	0.45557	-5.307	0.40012	T	.	.	0.326	0.54926	B	.	.	4.638468	0.73819	26.1	0.99898403714163153	0.97048	0.94407	0.61067	D	AEFDBI	0.476224	0.51973	N	0.438484043992529	0.63552	4.591233	0.365264395701364	0.59433	4.121001	0.974547197406394	0.29552	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	4.19	4.19	0.48645	2.464000	0.44724	5.758000	0.49667	0.575000	0.29119	0.977000	0.34929	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.942	0.86090	895	0.25842	.	.	.	CDHR5	Colon_Transverse	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016162	0.025510	0.010929	0.014793	0.000000	0.025862	0.009202	0.015152	0.02632	1955.33	36	chr11	400024	.	C	T	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=717;ExcessHet=0;FS=5.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.73;ReadPosRankSum=-0.568;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1104:.	18	0	1	0
chr11	403712	403712	G	A	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon10:c.G2018A:p.R673H,PKP3:NM_001303029:exon11:c.G2063A:p.R688H	.	423	1098	1	0	0	1	0.000455166	.	.	.	4041284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.302	0.122576482833	7.7e-05	.	3.349e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs199853396	2.675e-05	2.873e-05	2.048e-05	3.309e-05	0.0002	2.003e-05	1.759e-05	0.0001	7.817e-05	5.974e-05	0.0002	0	0	0	0.0002	1.889e-05	3.315e-05	4.637e-05	4.601e-05	4.596e-05	3.855e-05	5.382e-05	0.0003	2.11e-05	1.527e-05	8.873e-05	5.284e-05	0	0	0.0003	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.12	0.58754	M	0.7	0.51474	T	-2.73	0.58085	D	0.849	0.84505	-0.5198	0.67921	T	0.285	0.65705	T	10	0.81741846	0.80969	D	0.122576	0.80358	D	0.302	0.62290	.	.	0.752955129789	0.75071	0.6842687799659432	0.68365	0.454903777487	0.45175	0.691474020481	0.65918	T	0.616718	0.87929	D	-0.201192	0.20631	T	-0.242061	0.50598	T	0.428662573903388	0.30011	T	0.935006	0.75597	D	0.47914517	0.65848	0.3361746	0.59423	0.47914517	0.65849	0.3361746	0.59422	-11.69	0.83308	D	.	.	0.533	0.66073	A	.	.	5.515137	0.91724	32	0.99939145623094439	0.99734	0.98743	0.86283	D	AEFBI	0.859045	0.77665	D	0.438342801252602	0.63546	4.59029	0.323094136434086	0.56901	3.854127	0.999900597915183	0.45458	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.37	3.45	0.38602	6.306000	0.72778	11.414000	0.92699	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0825:0.0:0.9175:0.0	12.566	0.55659	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2353.33	34	chr11	403712	.	G	A	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=912;ExcessHet=0;FS=3.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.17;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1381	18	0	1	0
chr11	404322	404322	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon12:c.C2357T:p.A786V,PKP3:NM_001303029:exon13:c.C2402T:p.A801V	.	.	.	.	.	.	.	.	0.5615	0.374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.105599430444	.	0.000199681	3.344e-05	0	8.666e-05	0	0	1.531e-05	0	0.0001	3.23e-05	5	154602	rs540307035	1.987e-05	2.189e-05	1.909e-05	2.066e-05	0.0001	1.394e-05	1.206e-05	4.359e-05	2.768e-05	5.976e-05	0.0001	0	0	0	0	1.62e-05	0	4.638e-05	7.883e-05	7.875e-05	7.713e-05	8.061e-05	0.0005	4.496e-05	3.511e-05	0.0002	0.0002	2.408e-05	0	0.0005	0	0	0	0	5.881e-05	0	0	0.517	0.07330	T	0.294	0.20745	T	0.059	0.23051	B	0.003	0.08700	B	0.045159	0.23566	N	0.365970	0.947162	0.37557	D	0.665	0.16292	N	-1.4	0.80474	T	-1.16	0.29727	N	0.191	0.20925	-1.0246	0.22214	T	0.102	0.37768	T	10	0.08422169	0.14094	T	0.105599	0.78079	D	0.234	0.53644	0.284	0.24121	0.856090422404	0.85470	0.3677115182006392	0.36685	0.0700220257158	0.07844	0.516404032707	0.41120	T	0.132691	0.46292	T	-0.224449	0.17389	T	-0.290882	0.45682	T	0.0461493916809559	0.04811	T	0.740126	0.35895	T	0.06905103	0.15097	0.06426885	0.12854	0.06905103	0.15097	0.06426885	0.12854	-4.958	0.36381	T	.	.	0.092	0.13456	B	.	.	4.799822	0.77971	26.8	0.99699841420857216	0.80522	0.81140	0.40608	D	AEFDBI	0.484959	0.52476	N	0.214742398876989	0.51914	3.369043	0.180777903571948	0.48795	3.090645	0.913189350956941	0.26416	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.28	3.28	0.36691	2.262000	0.42941	5.766000	0.49713	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.770000	0.36519	0.0:0.7389:0.1629:0.0982	8.157	0.30337	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1148.33	37	chr11	404322	.	C	T	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=1050;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.3;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr11	428624	428624	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001347882:exon12:c.G604A:p.G202S,ANO9:NM_001012302:exon13:c.G1036A:p.G346S	.	378	1143	1	0	0	1	0.000437254	.	.	.	2350915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.240428495329	7.7e-05	.	6.781e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs143634897	6.919e-05	6.977e-05	6.815e-05	7.024e-05	0.0002	5.788e-05	5.399e-05	6.875e-05	6.372e-05	0	0	0	0	3.848e-05	0.0002	8.277e-05	8.289e-05	1.16e-05	7.878e-05	7.873e-05	0.0001	5.37e-05	0.0002	4.493e-05	3.509e-05	9.05e-05	7.014e-05	0	0	0	0	0	0	0	0.0002	0.0005	0	0.521	0.07235	T	0.068	0.44106	T	1.0	0.90584	D	0.94	0.67560	D	0.000004	0.00162	U	9.249570	0.999957	0.52396	D	1.685	0.43254	L	-0.04	0.63240	T	-2.34	0.51811	N	0.678	0.68516	-0.6925	0.60792	T	0.375	0.73310	T	10	0.7715333	0.77122	D	0.240428	0.88673	D	0.361	0.68141	.	.	0.607307720492	0.60415	0.7124721201964531	0.71189	0.867068054903	0.69251	0.50328040123	0.39285	T	0.109746	0.42387	T	-0.175297	0.24439	T	-0.24127	0.50673	T	0.479891270399094	0.31893	T	0.79722	0.44094	T	0.29130936	0.52114	0.37203395	0.62421	0.29130936	0.52114	0.37203395	0.62420	-9.012	0.67775	D	.	.	0.135	0.29367	B	.	.	4.499870	0.70371	25.5	0.99839055515339792	0.91972	0.96934	0.71741	D	AEFDBI	0.723767	0.67328	D	0.343522487021428	0.58397	4.011827	0.31650350398014	0.56511	3.814346	0.999999999807422	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.17	4.17	0.48303	3.045000	0.49528	5.449000	0.48641	0.517000	0.23534	0.992000	0.37556	1.000000	0.68203	0.454000	0.27984	0.0:1.0:0.0:0.0	16.927	0.86050	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2486.33	36	chr11	428624	.	C	T	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.96;DP=1004;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.13;SOR=0.614	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	431757	431757	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001347882:exon6:c.G44A:p.R15H,ANO9:NM_001012302:exon7:c.G476A:p.R159H	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0003	0.0275559	0.0087	0.0016	8.729e-05	0.1148	0	1.529e-05	0.0102	0.0015	0.0082729	1279	154602	rs78972632	0.0030	0.0030	0.0031	0.0028	0.0884	0.0029	0.0029	0.0860	0.0850	0.0007	0.0002	3.834e-05	0.0884	0	0.0007	2.789e-05	0.0098	0.0021	0.0044	0.0044	0.0043	0.0045	0.1060	0.0041	0.0040	0.0987	0.0957	0.0015	0	0.0019	0	0.1060	0	0	7.359e-05	0.0057	0.0027	0.285	0.15251	T	0.22	0.25907	T	0.0	0.02946	B	0.0	0.01387	B	0.252907	0.03658	N	1.845210	1	0.08975	N	-0.69	0.01958	N	-0.35	0.68616	T	1.48	0.00756	N	0.05	0.02179	-1.1340	0.01600	T	0.003	0.00897	T	10	0.001875937	0.00025	T	.	.	.	0.040	0.10527	.	.	0.0611884634855	0.05136	0.20705851998340977	0.20621	0.292515263273	0.31669	0.296128630638	0.09826	T	0.042978	0.26354	T	-0.640731	0.00083	T	-0.596425	0.13113	T	0.0016213054078414	0.00016	T	0.0465953	0.00332	T	0.02936699	0.02419	0.022439579	0.00268	0.02936699	0.02418	0.022439579	0.00268	-3.135	0.11703	T	.	.	0.065	0.01884	B	.	.	0.643583	0.10120	6.866	0.82767067481100032	0.14364	0.00859	0.03418	N	AEFDBCI	0.023673	0.01352	N	-1.48670225070622	0.01943	0.08531538	-1.50934414873418	0.02272	0.1042195	0.605815837670193	0.21764	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.25	-2.41	0.06184	-0.715000	0.05099	-1.382000	0.05571	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1184:0.3007:0.1217:0.4592	2.252	0.03798	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	816.33	34	chr11	431757	.	C	T	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.66;DP=658;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.075;SOR=0.941	GT:AD:DP:GQ:PL	0/1:12,34:46:99:830,0,245	18	0	1	0
chr11	499944	499944	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon4:c.C328T:p.R110C,RNH1:NM_203385:exon4:c.C328T:p.R110C,RNH1:NM_203388:exon4:c.C328T:p.R110C,RNH1:NM_203389:exon4:c.C328T:p.R110C,RNH1:NM_002939:exon5:c.C328T:p.R110C,RNH1:NM_203383:exon5:c.C328T:p.R110C,RNH1:NM_203386:exon5:c.C328T:p.R110C,RNH1:NM_203387:exon5:c.C328T:p.R110C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.103392272384	0.0049	0.00179712	0.0060	0.0020	0.0014	0	0.0082	0.0089	0.0016	0.0026	0.004366	675	154602	rs117254759	0.0066	0.0066	0.0069	0.0064	0.0078	0.0065	0.0065	0.0077	0.0076	0.0010	0.0014	0.0040	0	0.0069	0.0015	0.0078	0.0046	0.0019	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0014	0.0037	0	0.0055	0	0.0070	0.0043	0.0017	0.074	0.78490	T	0.034	0.69154	D	0.999	0.77913	D	0.548	0.49136	P	0.106549	0.19609	N	0.423423	0.98541	0.24713	N	2.285	0.65182	M	0.99	0.54149	T	-2.52	0.77798	D	0.394	0.43803	-0.9637	0.38468	T	0.117	0.41187	T	10	0.0055663884	0.00123	T	0.103392	0.77739	D	0.117	0.32689	.	.	0.690818619429	0.68816	0.4378412686119318	0.43701	0.642168430392	0.57789	0.411553770304	0.26672	T	0.123394	0.44773	T	-0.396166	0.02453	T	-0.33516	0.40892	T	0.025197134143806	0.01298	T	0.79622	0.56114	T	0.37820172	0.59186	0.12681967	0.30538	0.37820172	0.59186	0.12681967	0.30537	-6.856	0.52974	T	.	.	0.125	0.37988	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.528874	0.32689	19.12	0.99656008721594225	0.77631	0.22819	0.21873	N	AEFBCI	0.228658	0.35229	N	-0.343048869355888	0.27528	1.511066	-0.584454568967611	0.19898	1.069654	0.731839146626737	0.23059	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.03	1.12	0.19700	0.072000	0.14482	1.360000	0.25874	0.506000	0.23061	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2832:0.0:0.7168:0.0	5.141	0.14289	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr11:499944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002033	0.000000	0.001362	0.000000	0.050000	0.000000	0.006211	0.003788	0.02632	1126.33	39	chr11	499944	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.88;DP=755;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.222;SOR=1.077	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1299	18	0	1	0
chr11	541600	541600	C	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon5:c.C241A:p.R81S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00681151478796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.98e-07	4.104e-06	0	1.405e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.691e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.195	0.28032	T	0.748	0.43202	P	0.221	0.37837	B	0.004888	0.33292	N	0.285799	0.973242	0.25557	N	2.585	0.75554	M	2.93	0.09822	T	-1.88	0.43906	N	0.416	0.45615	-1.0344	0.19046	T	0.027	0.11707	T	10	0.16255999	0.30463	T	0.006812	0.18010	T	0.087	0.25287	0.469	0.54214	0.231873229951	0.22792	0.5046357157893145	0.50385	.	.	0.269790500402	0.06114	T	0.004682	0.04092	T	-0.171484	0.25011	T	-0.484101	0.24010	T	0.866464376449585	0.51653	D	0.850615	0.53448	D	0.15571983	0.35180	0.104326405	0.25053	0.15571983	0.35179	0.104326405	0.25053	-9.949	0.73606	D	0.6264384898530287	0.69535	0.252	0.48685	B	.	.	3.849282	0.55755	23.6	0.99412254002930789	0.63358	0.32518	0.24605	N	AEFBI	0.161850	0.28795	N	-0.0945185241750075	0.37632	2.192235	-0.146205134174997	0.33553	1.920603	0.99999986183666	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.66	4.66	0.57857	0.523000	0.22632	7.451000	0.58961	0.549000	0.26987	0.000000	0.06391	0.922000	0.28345	0.401000	0.26804	0.1985:0.8015:0.0:0.0	10.184	0.42162	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	912.33	33	chr11	541600	.	C	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=687;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=1.48;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	18	0	1	0
chr11	549946	549946	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon7:c.C371T:p.A124V	.	403	1032	83	4	0	91	0.0422274	.	.	.	1662102	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0035	0.00798722	0.0099	0.0010	0.0043	0	0.0037	0.0055	0.0263	0.0435	0.0088421	1367	154602	rs61747447	0.0065	0.0065	0.0052	0.0078	0.0451	0.0064	0.0064	0.0440	0.0435	0.0010	0.0041	0.0088	2.519e-05	0.0035	0.0342	0.0039	0.0075	0.0451	0.0047	0.0047	0.0039	0.0056	0.0389	0.0044	0.0043	0.0343	0.0326	0.0007	0	0.0080	0.0095	0	0.0052	0.0238	0.0040	0.0066	0.0389	0.022	0.48642	D	0.03	0.54159	D	0.698	0.41805	P	0.315	0.41566	B	0.000209	0.47681	D	0.182863	0.745689	0.33872	D	1.66	0.42513	L	2.84	0.10674	T	-2.19	0.49352	N	0.161	0.16864	-1.0411	0.16981	T	0.027	0.11707	T	10	0.005618125	0.00125	T	.	.	.	0.104	0.29647	.	.	0.346768085243	0.34289	0.38699509775960966	0.38614	.	.	0.325840711594	0.14305	T	0.030476	0.21593	T	-0.612688	0.00122	T	-0.620725	0.11128	T	0.0215623699485929	0.00860	T	0.873013	0.58094	D	0.13397506	0.31143	0.14610958	0.34627	0.13397506	0.31143	0.14610958	0.34626	-8.334	0.63324	D	0.6091609485991119	0.67664	0.170	0.37426	B	.	.	3.881730	0.56424	23.7	0.99731846317511674	0.82833	0.80143	0.39860	D	AEFBI	0.126387	0.24331	N	0.2985784982147	0.56078	3.771958	0.317709649831436	0.56581	3.821541	0.999925574302959	0.46280	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.71	3.77	0.42499	1.248000	0.32429	4.606000	0.44017	0.549000	0.26987	0.241000	0.24758	1.000000	0.68203	0.986000	0.61781	0.0:0.9053:0.0:0.0947	11.104	0.47414	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.000000	0.010870	0.032164	0.000000	0.051724	0.015244	0.053030	0.02632	1433.33	35	chr11	549946	.	C	T	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.11;ReadPosRankSum=-1.005;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.02632	1481.33	37	chr11	551741	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.289;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.39;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	18	0	1	0
chr11	556942	556942	G	A	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon8:c.C869T:p.P290L	.	.	.	.	.	.	.	.	.	.	.	3701670	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00476340867819	0.0002	.	4.931e-05	0	0	0	0	8.939e-05	0	0	3.23e-05	5	154602	rs138732057	0.0001	0.0001	0.0001	0.0001	0.0001	9.758e-05	9.232e-05	0.0001	0.0001	2.993e-05	4.536e-05	0	0	0	0	0.0001	6.664e-05	0	0.0007	0.0007	0.0006	0.0007	0.0002	0.0006	0.0005	9.047e-05	7.012e-05	0	0.1000	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.484	0.11760	T	0.001	0.07471	B	0.001	0.04355	B	0.090089	0.02445	N	2.179350	1	0.08975	N	.	.	.	1.12	0.39223	T	0.74	0.02038	N	0.049	0.02088	-1.0221	0.23031	T	0.043	0.18618	T	10	0.0036161542	0.00066	T	0.004763	0.11879	T	0.006	0.00375	.	.	0.202086224978	0.19791	0.044710596615470825	0.04415	0.0660348070663	0.07365	.	.	.	0.002922	0.02319	T	-0.517821	0.00453	T	-0.798199	0.01948	T	0.0210639036866366	0.00808	T	0.425957	0.13535	T	0.017686391	0.00294	0.030072223	0.01418	0.017686391	0.00293	0.030072223	0.01418	-4.352	0.28900	T	.	.	0.087	0.13690	B	.;.	.;.	-1.361293	0.00389	0.007	0.69361897920871052	0.08948	0.00652	0.02836	N	AEFDBI	0.045217	0.07371	N	-1.89129045137323	0.00358	0.01536865	-1.94090833359926	0.00406	0.01793079	0.999998963861171	0.74766	0.609539	0.35627	0	0.493711	0.08144	1	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.28	-6.66	0.01624	-1.406000	0.02596	-0.800000	0.07378	-1.947000	0.00486	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2199:0.0:0.5158:0.2643	6.868	0.23285	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1159.33	36	chr11	556942	.	G	A	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.455;DP=783;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.555;SOR=0.654	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1297	18	0	1	0
chr11	562307	562307	C	T	exonic	RASSF7	.	nonsynonymous SNV	RASSF7:NM_001143993:exon3:c.C353T:p.A118V,RASSF7:NM_001143994:exon3:c.C353T:p.A118V,RASSF7:NM_003475:exon3:c.C353T:p.A118V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00585593202245	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs771302601	9.591e-06	1.026e-05	1.091e-05	8.262e-06	0.0007	5.57e-06	4.35e-06	0.0002	0.0001	5.977e-05	0	0	0	0	0.0007	3.598e-06	6.63e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.18	0.29442	T	0.0	0.02946	B	0.002	0.06944	B	0.588071	0.11076	N	0.815368	1	0.08975	N	0.41	0.12415	N	1.44	0.33189	T	-0.9	0.24244	N	0.04	0.02366	-1.0122	0.26228	T	0.041	0.17446	T	10	0.050146163	0.04704	T	0.005856	0.15221	T	0.018	0.03083	0.157	0.06070	0.210429274316	0.20668	0.20221881386059026	0.20138	0.0222179674918	0.02231	0.327541381121	0.14563	T	0.004329	0.03739	T	-0.355422	0.04396	T	-0.748316	0.03552	T	0.0276047851787208	0.01631	T	0.611639	0.23235	T	0.03148449	0.02998	0.04016738	0.04279	0.03148449	0.02997	0.04016738	0.04279	-3.968	0.24445	T	.	.	0.081	0.10062	B	.;.;.;.	.;.;.;.	0.419642	0.07901	4.607	0.97108374200398939	0.32400	0.14712	0.18546	N	AEFBCI	0.043898	0.06995	N	-1.18663307336957	0.05201	0.2365644	-1.20415930771982	0.05843	0.2795405	0.999874788577503	0.44625	0.660085	0.49399	0	0.662677	0.63036	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	2.95	1.08	0.19456	-0.076000	0.11374	0.509000	0.19063	-0.187000	0.09635	0.000000	0.06391	0.001000	0.17328	0.101000	0.18331	0.0:0.7226:0.0:0.2774	8.723	0.33613	917	0.20147	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1676.83	34	chr11	562307	.	C	T	1676.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=751;ExcessHet=0.119;FS=7.675;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.575;SOR=0.921	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1515	17	0	2	0
chr11	597462	597462	G	C	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon8:c.G786C:p.R262S,PHRF1:NM_001286582:exon8:c.G783C:p.R261S,PHRF1:NM_001286583:exon8:c.G774C:p.R258S,PHRF1:NM_020901:exon8:c.G786C:p.R262S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.19259054285	.	.	6.397e-05	0.0001	0	0	0	6.515e-05	0	0.0001	4.53e-05	7	154602	rs779928956	2.876e-05	2.941e-05	2.18e-05	3.579e-05	8.141e-05	2.153e-05	1.909e-05	3.776e-05	2.669e-05	0	0	0	0	0	0	3.059e-05	1.657e-05	8.141e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.88582	D	0.001465	0.38917	N	0.000000	0.962924	0.41169	D	1.965	0.53209	M	-1.62	0.82625	D	-4.16	0.75375	D	0.643	0.67995	0.089	0.83969	D	0.615	0.86405	D	10	0.6567189	0.69916	D	0.192591	0.86253	D	0.465	0.76089	0.307	0.27806	0.379902899194	0.37607	0.7216881233613675	0.72112	0.113901460295	0.12851	0.683348894119	0.64750	T	0.428778	0.77780	T	-0.0919847	0.37749	T	-0.110227	0.62593	T	0.257669261357316	0.23213	T	0.915408	0.71908	D	0.48766685	0.66363	0.5167423	0.72078	0.48766685	0.66364	0.5167423	0.72079	-7.519	0.57744	D	.	.	0.422	0.64459	A	.;.;.;.	.;.;.;.	2.784387	0.36587	20.3	0.9966650918380584	0.78266	0.75053	0.36732	D	AEFBHCI	0.428915	0.49225	N	0.18121408961939	0.50298	3.221105	0.038070910305765	0.41500	2.494188	0.261925140677017	0.18799	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.23	0.027	0.13473	0.284000	0.18624	1.659000	0.27889	0.667000	0.69007	0.996000	0.39380	1.000000	0.68203	0.901000	0.43729	0.47:0.0:0.53:0.0	9.156	0.36158	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1241.33	38	chr11	597462	.	G	C	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.259;DP=745;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.616;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	0	1	0
chr11	598481	598481	G	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon9:c.G1003T:p.A335S,PHRF1:NM_001286582:exon9:c.G1000T:p.A334S,PHRF1:NM_001286583:exon9:c.G991T:p.A331S,PHRF1:NM_020901:exon9:c.G1003T:p.A335S	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0020	0.00319489	0.0038	0.0005	0.0017	0	0.0015	0.0038	0.0108	0.0089	0.0030336	469	154602	rs182144037	0.0024	0.0024	0.0022	0.0027	0.0079	0.0024	0.0023	0.0074	0.0072	0.0012	0.0024	0.0253	0	0.0015	0.0075	0.0015	0.0040	0.0079	0.0024	0.0024	0.0023	0.0024	0.0093	0.0022	0.0021	0.0072	0.0064	0.0004	0	0.0033	0.0271	0	0.0006	0.0170	0.0020	0.0052	0.0093	0.051	0.39575	T	0.725	0.05309	T	0.031	0.22494	B	0.03	0.27432	B	0.313922	0.14385	N	0.573541	1	0.08975	N	1.1	0.28011	L	1.09	0.39223	T	-0.74	0.21644	N	0.188	0.28264	-1.0002	0.29860	T	0.100	0.37162	T	10	0.003364265	0.00059	T	.	.	.	0.025	0.05312	.	.	0.082315109003	0.07666	0.17073126093402924	0.16993	0.32569096242	0.34714	0.217391163111	0.01165	T	0.014587	0.12389	T	-0.606328	0.00133	T	-0.638879	0.09751	T	0.0125171626056827	0.00207	T	0.782722	0.41876	T	0.032968257	0.03424	0.041725293	0.04809	0.032968257	0.03423	0.041725293	0.04809	-3.498	0.16459	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.306796	0.06821	3.346	0.97020328205897921	0.32022	0.17388	0.19815	N	AEFDBI	0.119556	0.23330	N	-0.819869099762579	0.12803	0.6264517	-0.874341538837182	0.12703	0.6550143	0.0837766092060231	0.15937	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.63	2.75	0.31439	-0.179000	0.09761	0.037000	0.13814	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2735:0.0:0.7265:0.0	7.802	0.28342	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.015152	0.02632	1233.33	38	chr11	598481	.	G	T	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=749;ExcessHet=0;FS=6.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.553;SOR=1.275	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1279	18	0	1	0
chr11	617383	617383	C	T	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_031264:exon14:c.G1924A:p.D642N,CDHR5:NM_001171968:exon15:c.G2488A:p.D830N,CDHR5:NM_021924:exon15:c.G2506A:p.D836N	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0270366704995	0.0015	0.000399361	0.0010	0.0006	0.0003	0.0001	0	0.0012	0.0026	0.0019	0.0008473	131	154602	rs143800672	0.0012	0.0012	0.0011	0.0012	0.0016	0.0011	0.0011	0.0012	0.0012	0.0002	0.0006	0.0022	0	5.775e-05	0.0016	0.0012	0.0020	0.0014	0.0008	0.0008	0.0009	0.0007	0.0015	0.0007	0.0007	0.0011	0.0010	0.0001	0	0.0007	0.0017	0.0002	0	0	0.0013	0.0019	0.0015	0.0	0.91255	D	0.029	0.92824	D	0.312	0.32836	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.28	0.59176	T	-1.58	0.38151	N	0.092	0.32148	-0.9729	0.36583	T	0.109	0.39415	T	9	0.005690515	0.00126	T	0.027037	0.49893	D	0.065	0.18881	.	.	0.0762999501168	0.06990	0.13509580357194745	0.13433	0.0416331187083	0.04473	0.610970854759	0.54453	T	0.004843	0.04259	T	-0.536351	0.00352	T	-0.578585	0.14671	T	0.0469407673683733	0.04955	T	0.611339	0.23205	T	0.085289896	0.19778	0.09230769	0.21749	0.085289896	0.19778	0.09230769	0.21748	-5.65	0.51923	T	.	.	0.108	0.20547	B	.;.;.	.;.;.	0.908889	0.12830	9.346	0.97403093798631135	0.33785	0.01042	0.03892	N	AEFDBI	0.084658	0.17158	N	-1.19521819997786	0.05072	0.2303675	-1.33495100838831	0.03986	0.1870936	0.999927960126912	0.46280	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	-1.14	0.09241	-3.209000	0.00615	-2.004000	0.04359	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2354:0.3725:0.2316:0.1605	0.850	0.01095	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002941	0.000000	0.000000	0.003049	0.003788	0.02632	1751.33	33	chr11	617383	.	C	T	1751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=1055;ExcessHet=0;FS=3.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.581;SOR=1.034	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr11	618904	618904	G	A	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_001171968:exon13:c.C1637T:p.P546L,CDHR5:NM_021924:exon13:c.C1655T:p.P552L	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00319489	0.0026	0	0.0002	0.0318	0.0012	0.0002	0.0033	0.0006	0.0022057	341	154602	rs192328085	0.0013	0.0013	0.0013	0.0013	0.0381	0.0012	0.0012	0.0365	0.0358	0	2.247e-05	0.0007	0.0381	0.0008	0.0005	7.482e-05	0.0018	0.0011	0.0012	0.0012	0.0010	0.0015	0.0297	0.0011	0.0010	0.0259	0.0244	4.839e-05	0	6.543e-05	0.0009	0.0297	0.0010	0	0.0001	0.0014	0.0006	0.054	0.38633	T	0.041	0.50514	D	0.248	0.31148	B	0.067	0.27542	B	0.196640	0.03289	N	1.978160	1	0.08975	N	1.39	0.34934	L	1.1	0.39050	T	-1.05	0.27463	N	0.115	0.33578	-1.0484	0.14846	T	0.035	0.15291	T	10	0.0037231743	0.00069	T	.	.	.	0.028	0.06331	.	.	0.101711395817	0.09552	0.2075970087440285	0.20675	0.247984735004	0.27358	0.236528366804	0.02486	T	0.008657	0.07935	T	-0.518874	0.00447	T	-0.49579	0.22784	T	0.0156021913229965	0.00356	T	0.408059	0.10511	T	0.053665232	0.10188	0.05627769	0.10028	0.053665232	0.10187	0.05627769	0.10027	-7.882	0.60263	D	.	.	0.075	0.05890	B	.;.	.;.	1.292428	0.16934	12.86	0.6897591394274738	0.08826	0.01885	0.05793	N	AEFDBI	0.039159	0.05648	N	-0.828752264098498	0.12579	0.6140258	-0.928654873780205	0.11420	0.5816502	0.712109719718229	0.22832	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.4	1.41	0.21461	-0.789000	0.04714	0.060000	0.14119	0.667000	0.69007	0.000000	0.06391	0.013000	0.20296	0.015000	0.10482	0.1224:0.0:0.6593:0.2183	4.431	0.10951	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011450	0.02632	1545.33	44	chr11	618904	.	G	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.2;DP=904;ExcessHet=0;FS=4.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.81;MQRankSum=-0.586;QD=9.48;ReadPosRankSum=2.12;SOR=0.729	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr11	640099	640099	A	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A850C:p.S284R	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0368788643789	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs34662058	0.0008	0.0010	0.0008	0.0008	0.0031	0.0008	0.0007	0.0026	0.0024	0.0001	0.0007	8.304e-05	0.0012	0.0012	0.0004	0.0007	0.0015	0.0031	0.0006	0.0007	0.0006	0.0006	0.0044	0.0005	0.0004	0.0025	0.0020	0.0001	0	9.837e-05	0	0.0012	0.0002	0.0056	0.0008	0.0008	0.0044	0.17	0.22833	T	0.526	0.10245	T	.	.	.	.	.	.	0.000208	0.00519	U	6.727460	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.41	0.14000	N	0.095	0.07535	-1.0407	0.17101	T	0.135	0.45049	T	7	0.028003752	0.00937	T	0.036879	0.57267	D	0.043	0.11576	0.303	0.27164	0.134241683229	0.13084	0.254554735221153	0.25369	0.316651290462	0.33919	0.540689110756	0.44542	T	.	.	.	-0.494721	0.00612	T	-0.59669	0.13091	T	0.278487324714661	0.24108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30157	B	.	.	-0.094129	0.03676	0.742	0.40471895611092856	0.02858	0.01508	0.04988	N	AEFBI	0.062402	0.11994	N	-1.27589728253844	0.03967	0.1782201	-1.50140471831192	0.02334	0.1071743	0.992365450282527	0.32813	0.59774	0.34471	0	0.514364	0.08380	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	0.664	-0.472	0.11511	-1.085000	0.03500	-1.087000	0.06371	-1.440000	0.01105	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6696:0.0:0.3304:0.0	5.355	0.15359	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2763.28	46	chr11	640099	.	A	C	2763.28	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.733;DP=486;ExcessHet=0.3441;FS=6.066;InbreedingCoeff=0.1244;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=17.83;ReadPosRankSum=0.978;SOR=1.187	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:34:99:.:.:617,665,1320:.	18	0	1	0
chr11	722434	722434	C	T	exonic	EPS8L2	.	nonsynonymous SNV	EPS8L2:NM_022772:exon13:c.C1093T:p.R365C	.	.	.	.	.	.	.	.	.	.	.	2394501	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0997839650775	.	.	3.323e-05	0	8.664e-05	0.0001	0	0	0	0.0001	3.23e-05	5	154602	rs746329487	3.764e-05	3.899e-05	3.541e-05	3.989e-05	0.0002	2.961e-05	2.657e-05	9.929e-05	7.225e-05	0	8.946e-05	0.0002	0.0002	0	0	2.608e-05	4.969e-05	5.797e-05	1.972e-05	1.97e-05	2.569e-05	1.346e-05	0.0004	5.24e-06	2.45e-06	6.813e-05	2.852e-05	0	0	0	0.0003	0.0004	0	0	0	0	0	0.014	0.53172	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	U	0.000000	0.778058	0.29363	N	3.05	0.86762	M	2.0	0.21473	T	-3.83	0.72120	D	0.646	0.65758	-1.0012	0.29574	T	0.089	0.34325	T	10	0.3493668	0.51831	T	0.099784	0.77166	D	0.221	0.51721	0.484	0.56621	0.455816718377	0.45207	0.5246665943044709	0.52390	0.15695211792	0.17722	0.631580293179	0.57370	T	0.321764	0.69284	T	-0.140856	0.29753	T	-0.214405	0.53274	T	0.657915949821472	0.38804	D	0.79872	0.46129	T	0.24759945	0.47739	0.10838556	0.26108	0.24759945	0.47739	0.10838556	0.26107	-8.26	0.64594	D	.	.	0.107	0.24054	B	.;.;.;.;.;.	.;.;.;.;.;.	3.806670	0.54888	23.5	0.98545301222079429	0.42770	0.45587	0.27572	N	AEFDBI	0.404622	0.47783	N	-0.0410452778611703	0.40002	2.368352	-0.263631094189738	0.29306	1.64081	0.998782077926078	0.37667	0.676563	0.55306	0	0.633656	0.55848	0	0.723109	0.80598	0	0.600526	0.37237	0	.	.	3.13	1.12	0.19700	1.696000	0.37392	0.422000	0.18230	-0.356000	0.05535	0.869000	0.30776	0.045000	0.21693	0.018000	0.11154	0.3331:0.3769:0.1738:0.1162	1.661	0.02623	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	34	chr11	722434	.	C	T	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=723;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.06;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,936	18	0	1	0
chr11	800563	800563	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon12:c.G2021A:p.R674H,PIDD1:NM_145887:exon12:c.G2021A:p.R674H	.	424	1096	2	0	0	2	0.000911577	.	.	.	3409318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0076	0.00339457	0.0059	0.0020	0.0044	0	0.0011	0.0090	0.0012	0.0017	0.0057761	893	154602	rs113725585	0.0078	0.0078	0.0080	0.0075	0.0092	0.0077	0.0076	0.0091	0.0090	0.0016	0.0058	0.0034	5.04e-05	0.0030	0.0012	0.0092	0.0065	0.0015	0.0059	0.0059	0.0061	0.0057	0.0096	0.0056	0.0055	0.0090	0.0088	0.0016	0	0.0088	0.0026	0	0.0012	0.0102	0.0096	0.0047	0.0021	0.023	0.56456	D	0.017	0.63109	D	0.996	0.68779	D	0.799	0.58136	P	0.030966	0.25233	N	0.336128	0.609009	0.32604	D	1.795	0.47270	L	1.0	0.44461	T	-2.32	0.53420	N	0.497	0.53006	-0.8786	0.49872	T	0.088	0.33996	T	10	0.009842902	0.00221	T	.	.	.	0.062	0.17934	.	.	0.568072681961	0.56471	0.6215598268958934	0.62088	0.243842635264	0.26889	0.454351365566	0.32539	T	0.455751	0.79478	T	-0.591097	0.00165	T	-0.614882	0.11592	T	0.017556130032678	0.00489	T	0.916808	0.70203	D	0.07301502	0.16286	0.046360936	0.06445	0.07301502	0.16286	0.046360936	0.06445	-7.886	0.60291	D	.	.	0.130	0.27821	B	.;.	.;.	3.115647	0.42041	21.5	0.99849600338942979	0.92925	0.36903	0.25640	N	AEFBI	0.236058	0.35856	N	-0.265120164891743	0.30504	1.701518	-0.414692097980917	0.24565	1.345935	0.670256044278995	0.22367	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.1	2.09	0.26154	1.027000	0.29721	1.978000	0.30020	0.469000	0.21855	0.353000	0.25784	0.067000	0.22148	0.021000	0.11733	0.0:0.7127:0.0:0.2873	7.539	0.26896	884	0.28482	.;.	CMB9-55F22.1	Adipose_Subcutaneous	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1150.33	35	chr11	800563	.	C	T	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=877;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.33;SOR=0.588	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	800660	800660	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon12:c.G1924A:p.A642T,PIDD1:NM_145887:exon12:c.G1924A:p.A642T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0173068111264	.	0.000199681	0.0001	0.0008	0	0	0	0	0.0028	0.0002	5.17e-05	8	154602	rs535948800	1.189e-05	1.573e-05	9.724e-06	1.408e-05	0.0002	7.24e-06	5.92e-06	4.696e-05	3.457e-05	0	0	0	0	0	0.0002	5.442e-06	3.36e-05	9.549e-05	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0002	8.14e-06	5.14e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	0	0	0.0002	0.47	0.12386	T	1.0	0.01155	T	0.208	0.29916	B	0.02	0.23831	B	0.068495	0.21669	N	0.451895	1	0.08975	N	0.84	0.21119	L	1.94	0.22678	T	-0.43	0.14978	N	0.17	0.18103	-0.9774	0.35593	T	0.015	0.06282	T	10	0.014308423	0.00301	T	0.017307	0.38957	T	0.015	0.02232	.	.	0.0806252709748	0.07271	0.29904573892107195	0.29817	0.0402692846191	0.04312	0.606745541096	0.53856	T	0.171888	0.52018	T	-0.326033	0.06415	T	-0.706101	0.05499	T	0.0164711326360703	0.00412	T	0.630737	0.24588	T	0.06868194	0.14982	0.055218164	0.09643	0.06868194	0.14982	0.055218164	0.09643	-5.918	0.45588	T	.	.	0.087	0.13597	B	.;.	.;.	1.784775	0.22693	15.72	0.98454310919629506	0.41665	0.02475	0.06940	N	AEFBI	0.069695	0.13806	N	-0.985255520921504	0.08918	0.4200196	-1.0183998716099	0.09380	0.466382	0.0716741847715521	0.15575	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.72	0.427	0.15704	0.106000	0.15191	0.996000	0.23227	0.469000	0.21855	0.015000	0.19116	0.534000	0.25378	0.248000	0.23210	0.0:0.3342:0.2383:0.4275	5.221	0.14689	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	35	chr11	800660	.	C	T	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.731;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.176;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	801588	801590	AGG	-	exonic	PIDD1	.	nonframeshift deletion	PIDD1:NM_145886:exon8:c.1337_1339del:p.S446del,PIDD1:NM_145887:exon8:c.1337_1339del:p.S446del	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255101437	1.696e-05	1.642e-05	1.258e-05	2.144e-05	7.451e-05	1.147e-05	9.64e-06	3.172e-05	2.154e-05	0	0	0	0	0	0	1.378e-05	5.112e-05	7.451e-05	1.974e-05	1.97e-05	1.286e-05	2.695e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1678.29	77	chr11	801587	.	CAGG	C	1678.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=-0.072;SOR=0.718	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	1015798	1015798	C	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G7003T:p.V2335L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00502545592405	.	.	7.329e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs745329337	4.57e-05	4.583e-05	5.06e-05	4.064e-05	0.0004	3.663e-05	3.333e-05	6.41e-05	4.063e-05	0	0	0	0	0	0.0004	5.651e-05	0	1.322e-05	3.29e-05	3.285e-05	1.286e-05	5.388e-05	7.354e-05	1.262e-05	7.99e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.354e-05	0	0	0.083	0.33091	T	0.23	0.25135	T	0.276	0.31942	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.15	0.19311	T	-0.83	0.22727	N	0.047	0.01911	-0.9817	0.34608	T	0.026	0.10954	T	9	0.051725328	0.05099	T	0.005025	0.12690	T	0.009	0.00846	0.225	0.14960	0.107399877778	0.10242	0.12238505613610717	0.12165	0.087332336583	0.09842	0.27517670393	0.06829	T	0.028647	0.20702	T	-0.463436	0.00935	T	-0.677768	0.07120	T	0.0479168938371266	0.05128	T	.	.	.	0.059534736	0.12110	0.07136669	0.15274	0.059534736	0.12110	0.07136669	0.15274	-3.284	0.13532	T	.	.	0.106	0.19598	B	.	.	-1.118930	0.00618	0.016	0.7225777912732827	0.09911	0.09069	0.14898	N	AEFDBHCI	0.088075	0.17856	N	-1.11090831187758	0.06448	0.2968501	-1.17093839091298	0.06400	0.3079313	0.994385148032956	0.33613	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	3.2	1.17	0.19998	-0.473000	0.06694	-2.396000	0.03807	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7669:0.0:0.2331	7.894	0.28858	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	35	chr11	1015798	.	C	A	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=759;ExcessHet=0;FS=0.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.516;SOR=0.808	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,106,1800	18	0	1	0
chr11	1016833	1016833	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5968A:p.Q1990K	.	281	1179	59	3	0	65	0.0268262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.0066	0.0054	0.0137	0.0052	0.0059	0.0068	0.0066	0.0025	0.0052134	806	154602	rs71472140	3.434e-06	0.0017	1.367e-06	5.521e-06	2.519e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	2.519e-05	1.879e-05	0	1.807e-06	1.661e-05	0	2.069e-05	0.0071	1.351e-05	2.818e-05	8.309e-05	5.5e-06	2.53e-06	2.202e-05	1.11e-05	8.309e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.06	0.08197	N	2.13	0.19588	T	-0.27	0.11366	N	0.04	0.01347	-0.9752	0.36082	T	0.017	0.07187	T	9	0.0052206814	0.00114	T	.	.	.	0.007	0.00512	.	.	0.144782658237	0.14088	0.13176804686492347	0.13101	0.15740334082	0.17771	0.169174268842	0.00029	T	0.02147	0.16712	T	-0.367096	0.03743	T	-0.765084	0.02933	T	0.0911382230154741	0.11353	T	.	.	.	0.054971293	0.10621	0.04779059	0.06962	0.054971293	0.10621	0.04779059	0.06962	-4.265	0.27683	T	.	.	0.066	0.02228	B	.	.	-0.805330	0.01096	0.049	0.58088108874946298	0.05914	0.01441	0.04838	N	AEFDGBCI	0.026879	0.02097	N	-1.70474050646289	0.00825	0.0356758	-1.75322499355266	0.00921	0.04121295	0.999999157703228	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	2.97	-4.45	0.03298	-1.290000	0.02886	-8.924000	0.00893	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3598:0.3829:0.2573	6.937	0.23652	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.005051	0.000000	0.052941	0.000000	0.008621	0.003049	0.003788	0.02632	288.33	1025	chr11	1016833	.	G	T	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=20369;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.07;MQRankSum=-6.481;QD=0.25;ReadPosRankSum=-1.903;SOR=0.822	GT:AD:DP:GQ:PL	0/0:1186,0:1186:99:0,120,1800	18	0	1	0
chr11	1017067	1017067	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5734C:p.A1912P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00344875788654	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001746	27	154602	rs745508971	6.161e-06	0.0001	4.086e-06	8.257e-06	9.31e-05	2.9e-06	2.1e-06	4.593e-05	3.283e-05	0	0	0	0	0	0	0	1.658e-05	9.31e-05	6.561e-06	1.968e-05	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.111	0.29029	T	0.164	0.31026	T	0.998	0.73220	D	0.979	0.74454	D	.	.	.	.	1	0.08975	N	2.305	0.65957	M	1.99	0.21666	T	-0.04	0.07590	N	0.127	0.12055	-1.0351	0.18825	T	0.078	0.31072	T	9	0.05095601	0.04904	T	0.003449	0.07786	T	0.038	0.09825	.	.	0.317958651998	0.31400	0.1403540389741758	0.13958	0.52376291053	0.50081	0.2020727247	0.00519	T	0.052306	0.29124	T	-0.246366	0.14547	T	-0.591664	0.13523	T	0.175783678889275	0.18965	T	.	.	.	0.065667436	0.14057	0.064176686	0.12823	0.065667436	0.14057	0.064176686	0.12823	-8.008	0.61125	D	.	.	0.106	0.19639	B	.	.	1.265041	0.16631	12.66	0.98450357549072254	0.41620	0.03388	0.08496	N	AEFDGBCI	0.101332	0.20354	N	-0.49351548538304	0.22293	1.189335	-0.776535812651239	0.15071	0.7907839	0.999999725967586	0.74766	0.69289	0.55638	0	0.008208	0.00037	3	0.517114	0.09559	2	0.264475	0.05362	3	.	.	3.01	-0.721	0.10625	-2.180000	0.01343	-10.949000	0.00650	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.4409:0.2368:0.3223	2.948	0.05494	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	880.33	627	chr11	1017067	.	C	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.561;DP=12440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=3.78;QD=1.3;ReadPosRankSum=0.483;SOR=0.638	GT:AD:DP:GQ:PL	0/0:600,0:600:99:0,120,1800	18	0	1	0
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	770.04	569	chr11	1017465	.	C	*	770.04	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.694;DP=12563;ExcessHet=2.0135;FS=1.992;InbreedingCoeff=-0.2282;MLEAC=3;MLEAF=0.088;MQ=55.61;MQRankSum=-9.847;QD=0.19;ReadPosRankSum=-1.563;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:557,52:630:99:0|1:1017465_C_*:430,0,23638:1017465	14	0	3	2
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1308.94	585	chr11	1017467	.	G	*	1308.94	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.71;DP=12628;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2754;MLEAC=2;MLEAF=0.063;MQ=55.3;MQRankSum=-4.128;QD=0.31;ReadPosRankSum=-1.766;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:541,52:601:99:.:.:577,0,24341:.	14	0	2	3
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	13719.0	569	chr11	1017471	.	C	*	13719.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.309;DP=12666;ExcessHet=8.9063;FS=0.799;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=55.33;MQRankSum=-10.02;QD=1.77;ReadPosRankSum=2.61;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:568,52:639:99:0|1:1017465_C_*:396,0,24203:1017465	14	0	3	2
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	383.39	586	chr11	1017475	.	T	G	383.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=1;MLEAF=0.029;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/0:580,3:635:99:337,1981,26471	16	0	1	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	383.39	586	chr11	1017475	.	T	*	383.39	.	AC=3;AF=0.088;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=3;MLEAF=0.088;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/1:580,52:635:99:337,0,25033	14	0	3	2
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	15417.4	583	chr11	1017485	.	G	*	15417.4	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.65;DP=12722;ExcessHet=17.0548;FS=1.554;InbreedingCoeff=-0.6889;MLEAC=1;MLEAF=0.031;MQ=55.42;MQRankSum=-11.58;QD=1.65;ReadPosRankSum=8.19;SOR=0.891	GT:AD:DP:GQ:PL	0/0:535,52:608:99:945,224,22606	15	0	1	3
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,81:652:99:.:.:3913,0,17959:.	9	0	9	1
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1913.95	552	chr11	1017504	.	G	*	1913.95	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.26;DP=12586;ExcessHet=4.0268;FS=1.712;InbreedingCoeff=-0.275;MLEAC=2;MLEAF=0.056;MQ=55.78;MQRankSum=-7.178;QD=0.4;ReadPosRankSum=-1.817;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:544,56:654:93:.:.:698,0,22423:.	16	0	2	1
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	138117.0	565	chr11	1017514	.	A	*	138117.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.502;DP=12840;ExcessHet=31.086;FS=1.15;InbreedingCoeff=-0.8537;MLEAC=1;MLEAF=0.028;MQ=55.91;MQRankSum=-18.77;QD=12;ReadPosRankSum=5.02;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:424,56:651:99:.:.:5647,4586,22471:.	17	0	1	1
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2723.29	553	chr11	1017522	.	T	*	2723.29	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.179;DP=12333;ExcessHet=0.3672;FS=1.842;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.033;MQ=55.03;MQRankSum=-3.512;QD=1.23;ReadPosRankSum=4.51;SOR=0.503	GT:AD:DP:GQ:PL	0/1:665,52:717:99:334,0,27755	14	0	1	4
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	2853.76	576	chr11	1017528	.	T	*	2853.76	.	AC=1;AF=0.033;AN=30;BaseQRankSum=7.29;DP=12519;ExcessHet=2.9153;FS=3.69;InbreedingCoeff=-0.3103;MLEAC=1;MLEAF=0.033;MQ=55.83;MQRankSum=-8.689;QD=0.51;ReadPosRankSum=0.242;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	14	0	1	4
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	10011.6	575	chr11	1017529	.	G	*	10011.6	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.673;DP=12585;ExcessHet=6.9875;FS=2.906;InbreedingCoeff=-0.4615;MLEAC=1;MLEAF=0.033;MQ=55.85;MQRankSum=-5.296;QD=1.4;ReadPosRankSum=4.09;SOR=0.62	GT:AD:DP:GQ:PL	0/1:665,52:717:99:334,0,27755	14	0	1	4
chr11	1017545	1017545	G	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	624.39	566	chr11	1017545	.	G	*	624.39	.	AC=1;AF=0.036;AN=28;BaseQRankSum=4.93;DP=12583;ExcessHet=0.7564;FS=4.073;InbreedingCoeff=-0.2063;MLEAC=1;MLEAF=0.036;MQ=56.74;MQRankSum=-8.074;QD=0.22;ReadPosRankSum=-3.811;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	13	0	1	5
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	12806.9	427	chr11	1017552	.	T	*	12806.9	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.649;DP=11903;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3818;MLEAC=1;MLEAF=0.031;MQ=59.41;MQRankSum=1.75;QD=2.87;ReadPosRankSum=0.085;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:665,52:717:99:.:.:334,0,27755:.	15	0	1	3
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	406	chr11	1017891	.	G	T	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.032;DP=8688;ExcessHet=0;FS=10.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.66;MQRankSum=-13.28;QD=2.32;ReadPosRankSum=3.15;SOR=1.691	GT:AD:DP:GQ:PL	0/1:459,63:532:99:1226,0,18804	18	0	1	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.35	330	chr11	1017980	.	G	C	525.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=6869;ExcessHet=0;FS=10.733;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=54.41;MQRankSum=-5.012;QD=1.46;ReadPosRankSum=-2.02;SOR=2.719	GT:AD:DP:GQ:PL	0/1:323,36:359:99:539,0,13419	18	0	1	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	18479.6	163	chr11	1018226	.	T	*	18479.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.37;DP=4229;ExcessHet=38.2876;FS=14.16;InbreedingCoeff=-0.8999;MLEAC=1;MLEAF=0.026;MQ=57.2;MQRankSum=-8.934;QD=4.73;ReadPosRankSum=-0.063;SOR=1.376	GT:AD:DP:GQ:PL	0/0:193,22:278:99:2064,1722,9759	18	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:228,22:277:99:.:.:408,185,9852:.	11	0	5	3
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:284,35:346:99:.:.:615,0,11820:.	5	0	14	0
chr11	1019434	1019434	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon30:c.A3871G:p.T1291A	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00299521	0.0024	0.0001	8.64e-05	0	0	0	0	0.0176	0.0020181	312	154602	rs552237217	0.0010	0.0010	0.0005	0.0014	0.0152	0.0009	0.0009	0.0145	0.0142	2.987e-05	8.944e-05	0	0	0	0.0035	8.094e-06	0.0011	0.0152	0.0005	0.0005	0.0002	0.0007	0.0142	0.0004	0.0003	0.0115	0.0105	2.413e-05	0	0	0	0	0	0	0	0	0.0142	0.166	0.23183	T	0.103	0.38305	T	0.478	0.36706	P	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.13	0.19588	T	-0.88	0.23808	N	0.172	0.18376	-1.0061	0.28126	T	0.026	0.11087	T	9	0.003770113	0.00070	T	.	.	.	0.017	0.02790	.	.	0.193865811164	0.18958	0.2742888617146596	0.27341	0.0870890845527	0.09826	0.308344095945	0.11656	T	0.028981	0.20870	T	-0.597835	0.00150	T	-0.618552	0.11299	T	0.0163589177686501	0.00405	T	.	.	.	0.08056922	0.18467	0.06740125	0.13940	0.08056922	0.18467	0.06740125	0.13940	-5.299	0.39933	T	.	.	0.088	0.11461	B	.	.	1.984561	0.25210	16.68	0.52750639023601198	0.04807	0.04948	0.10709	N	AEFBI	0.091144	0.18465	N	-0.883063678494599	0.11245	0.5416376	-0.969931234853808	0.10464	0.5271965	0.0742994557616752	0.15661	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.91	0.021	0.13448	0.554000	0.23113	-0.463000	0.09027	0.502000	0.22824	0.001000	0.13787	0.000000	0.08366	0.069000	0.16583	0.3608:0.0:0.0:0.6392	6.957	0.23756	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	589.33	46	chr11	1019434	.	T	C	589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=790;ExcessHet=0;FS=3.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.454;SOR=0.508	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1342	18	0	1	0
chr11	1029077	1029077	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon11:c.C1349G:p.S450C	.	408	1108	6	0	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	.	0.00219649	0.0020	0.0001	8.929e-05	0	0	0	0	0.0140	0.0015847	245	154602	rs558664850	0.0008	0.0008	0.0004	0.0012	0.0126	0.0008	0.0007	0.0120	0.0118	2.987e-05	4.474e-05	0	0	0	0.0028	8.095e-06	0.0008	0.0126	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0	0.0114	0.553	0.06523	T	0.362	0.16865	T	0.409	0.35027	B	0.298	0.40966	B	.	.	.	.	0.98288	0.24930	N	0.095	0.08423	N	0.54	0.54911	T	3.14	0.00122	N	0.488	0.52208	-1.0754	0.08266	T	0.074	0.29770	T	9	0.013338327	0.00283	T	.	.	.	0.264	0.57741	.	.	0.372087925617	0.36815	0.8702287531322562	0.86988	0.086098281219	0.09729	0.411925256252	0.26723	T	0.017627	0.14352	T	-0.362584	0.03986	T	-0.282572	0.46539	T	0.0638209455831107	0.07756	T	.	.	.	0.22850384	0.45571	0.24201338	0.49612	0.22850384	0.45571	0.24201338	0.49611	-10.164	0.74887	D	.	.	0.257	0.49137	B	.	.	3.612613	0.51079	23.0	0.9327133905018189	0.22969	0.56082	0.30026	D	AEFBI	0.082776	0.16765	N	-0.535450252135172	0.20942	1.10776	-0.404995204884795	0.24849	1.363136	0.740562275698917	0.23205	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.31	4.31	0.50718	5.907000	0.69646	8.338000	0.76990	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:0.0:1.0:0.0	15.326	0.73878	830	0.39242	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1093.33	36	chr11	1029077	.	G	C	1093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=732;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.027;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	18	0	1	0
chr11	1032000	1032000	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon3:c.G169A:p.D57N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.0924728167544	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs773621605	6.843e-06	6.84e-06	9.532e-06	4.127e-06	0.0003	3.46e-06	2.52e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	6.296e-06	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.04	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.997093	0.43626	D	3.635	0.94052	H	-1.07	0.76948	T	-4.56	0.80595	D	0.761	0.75927	0.695	0.93108	D	0.730	0.90773	D	9	0.98085487	0.98079	D	0.092473	0.75897	D	0.646	0.86586	0.93	0.98900	0.902882498849	0.90191	0.8370578427239349	0.83665	0.08651989537	0.09766	0.550150930882	0.45878	T	0.207896	0.56766	T	-0.0766593	0.40256	T	-0.178764	0.56637	T	0.982087135314941	0.74284	D	.	.	.	0.3174715	0.54425	0.31340194	0.57338	0.3174715	0.54425	0.31340194	0.57337	-9.422	0.70373	D	.	.	0.647	0.70791	P	.;.	.;.	4.405091	0.68098	25.2	0.99730674217651805	0.82761	0.97699	0.76499	D	AEFDBI	0.793617	0.72157	D	0.755336820528908	0.83251	7.968937	0.607802704764782	0.75506	6.322491	0.999997334031741	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.03	4.03	0.46115	6.703000	0.74456	7.478000	0.59226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	16.141	0.81340	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1545.33	33	chr11	1032000	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.282;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	18	0	1	0
chr11	1074916	1074916	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	399	1112	10	1	0	12	0.00536673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00159744	0.0041	0	0.0097	0	0	0.0011	0.0208	0.0086	0.0007568	117	154602	rs369470505	0.0006	0.0006	0.0004	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	3.501e-05	0.0007	4.25e-05	0	0.0001	0.0039	0.0002	0.0009	0.0053	0.0006	0.0006	0.0006	0.0006	0.0031	0.0005	0.0005	0.0020	0.0018	9.624e-05	0	0.0027	0	0	0	0	0.0005	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.019231	0.02632	633.33	32	chr11	1074916	.	A	G	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.132;SOR=0.68	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1319	18	0	1	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1053	5645.41	33	chr11	1075685	.	C	T	5645.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.157;DP=891;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.103;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1187	16	1	2	0
chr11	1078510	1078510	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0429524836275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191187535	8.689e-06	2.257e-05	5.718e-06	1.174e-05	2.773e-05	4.63e-06	3.66e-06	3.19e-06	2.31e-06	0	0	0	2.773e-05	0	0	7.417e-06	3.47e-05	1.274e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	661.33	40	chr11	1078510	.	G	A	661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.012;SOR=0.586	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr11	1084298	1084298	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.352e-05	0	0.0005	0	0	3.241e-05	0	0.0001	3.88e-05	6	154602	rs751327313	4.483e-05	4.788e-05	5.07e-05	3.888e-05	9.175e-05	3.604e-05	3.284e-05	3.356e-05	2.968e-05	6.039e-05	9.175e-05	0	0	0	0	4.334e-05	0.0001	3.581e-05	4.597e-05	4.593e-05	2.57e-05	6.715e-05	2.406e-05	2.108e-05	1.526e-05	.	.	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	924.33	35	chr11	1084298	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=723;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=1.61;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1246	18	0	1	0
chr11	1090891	1090891	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	369	1152	1	0	0	1	0.000433839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	8.3e-05	0	0	0.0002	0	8.219e-05	0	0.0001	7.12e-05	11	154602	rs200982345	5.617e-05	5.609e-05	5.042e-05	6.198e-05	0.0005	4.616e-05	4.242e-05	0.0003	0.0003	0	0	3.837e-05	0.0005	1.895e-05	0	3.419e-05	1.657e-05	0.0002	2.627e-05	2.624e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1935.33	39	chr11	1090891	.	C	T	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=948;ExcessHet=0;FS=3.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.631;SOR=0.995	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	1095600	1095600	T	A	exonic	MUC2	.	unknown	UNKNOWN	.	568	942	10	2	0	14	0.00737619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222385839	0.0047	0.0034	0.0045	0.0050	0.0150	0.0046	0.0045	0.0118	0.0107	0.0008	0.0083	0.0210	3.364e-05	0.0004	0.0150	0.0040	0.0070	0.0070	0.0043	0.0042	0.0044	0.0042	0.0101	0.0040	0.0039	0.0088	0.0082	0.0011	0	0.0101	0.0201	0	0.0003	0.0368	0.0046	0.0070	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2140.33	64	chr11	1095600	.	T	A	2140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=2503;ExcessHet=0;FS=3.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.167;SOR=1.022	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	18	0	1	0
chr11	1095925	1095925	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1836.33	277	chr11	1095925	.	G	C	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=3200;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.31;MQRankSum=1.1;QD=14.35;ReadPosRankSum=-0.517;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0:193:99:.:.:0,120,1800:.	18	0	1	0
chr11	1095985	1095985	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370553972	2.74e-05	7.095e-05	1.851e-05	3.655e-05	6.294e-05	1.989e-05	1.761e-05	1.796e-05	1.525e-05	0	6.294e-05	0	0	3.276e-05	0	2.581e-05	5.713e-05	4.282e-05	0.0005	0.0013	0.0006	0.0004	0.0008	0.0004	0.0003	0.0002	0.0002	0.0005	0	0.0005	0.0014	0.0008	0.0015	0	0.0004	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	700.33	225	chr11	1095985	.	T	C	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=3224;ExcessHet=0;FS=52.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.7;MQRankSum=-11.64;QD=2.85;ReadPosRankSum=-5.722;SOR=3.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	18	0	1	0
chr11	1095988	1095988	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364549576	6.333e-05	0.0008	4.617e-05	8.105e-05	0.0004	5.192e-05	4.749e-05	0.0002	0.0002	0.0003	0.0004	4.386e-05	0.0001	0.0001	0	4.45e-05	3.811e-05	7.277e-05	0.0012	0.0041	0.0011	0.0014	0.0037	0.0010	0.0009	0.0020	0.0016	0.0021	0	0.0037	0.0008	0.0032	0.0023	0	0.0005	0.0018	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	907.33	225	chr11	1095988	.	A	C	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=3230;ExcessHet=0;FS=47.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-12.28;QD=3.6;ReadPosRankSum=-6.27;SOR=3.195	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096003	1096003	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219021202	2.945e-05	4.76e-05	2.827e-05	3.064e-05	7.393e-05	2.017e-05	1.728e-05	1.617e-05	1.334e-05	5.237e-05	3.24e-05	5.34e-05	7.393e-05	7.469e-05	0	2.588e-05	5.156e-05	0	4.623e-05	8.097e-05	2.929e-05	6.505e-05	6.58e-05	1.227e-05	6.4e-06	1.009e-05	3.77e-06	6.58e-05	0	0	0	0	0	0	6.093e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1947.58	249	chr11	1096003	.	C	A	1947.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=8.42;DP=3789;ExcessHet=0;FS=37.651;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.77;MQRankSum=-12.34;QD=6.93;ReadPosRankSum=-5.558;SOR=2.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800:.	13	0	1	5
chr11	1096004	1096004	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488834233	3.054e-05	3.576e-05	2.394e-05	3.712e-05	8.565e-05	2.033e-05	1.698e-05	2.897e-05	1.745e-05	6.59e-05	0	6.122e-05	3.947e-05	8.028e-05	0	2.319e-05	3.047e-05	8.565e-05	1.917e-05	1.374e-05	0	4.04e-05	8.807e-05	0	0	.	.	8.807e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	2055.58	249	chr11	1096004	.	C	T	2055.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=5.17;DP=3791;ExcessHet=0;FS=36.721;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.8;MQRankSum=-12;QD=7.26;ReadPosRankSum=-5.378;SOR=2.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800:.	13	0	1	5
chr11	1096006	1096006	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314453956	0.0002	0.0006	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	9.74e-05	0	0.0001	0.0004	2.843e-05	0.0005	0.0021	0.0003	0.0007	0.0027	0.0003	0.0002	0.0012	0.0008	0.0007	0	0.0027	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	2320.58	249	chr11	1096006	.	A	G	2320.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.46;DP=3847;ExcessHet=0;FS=19.42;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.52;MQRankSum=-12.07;QD=7.92;ReadPosRankSum=-6.051;SOR=1.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800:.	13	0	1	5
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	25958.0	336	chr11	1096086	.	G	*	25958.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.243;DP=6216;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=4;MLEAF=0.105;MQ=56.85;MQRankSum=0.894;QD=7.23;ReadPosRankSum=0;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:287,0:391:99:.:.:2877,3755,13480:.	15	0	4	0
chr11	1096089	1096089	C	0	exonic	MUC2	.	.	.	.	524	547	439	2	10	453	0.288224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	37894.6	320	chr11	1096089	.	C	*	37894.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.739;DP=6464;ExcessHet=20.8569;FS=0.576;InbreedingCoeff=-0.7273;MLEAC=2;MLEAF=0.059;MQ=56.72;MQRankSum=-3.754;QD=7.4;ReadPosRankSum=3.56;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:333,0:402:99:0|1:1096089_C_A:1835,2837,16354:1096089	15	0	2	2
chr11	1096105	1096105	C	0	exonic	MUC2	.	.	.	.	521	552	438	2	9	451	0.285899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	40487.7	320	chr11	1096105	.	C	*	40487.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.653;DP=6591;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.7273;MLEAC=1;MLEAF=0.029;MQ=56.72;MQRankSum=-2.902;QD=7.73;ReadPosRankSum=2.82;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:327,0:396:99:0|1:1096089_C_A:1850,2834,16268:1096089	16	0	1	2
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	22898.1	339	chr11	1096123	.	C	*	22898.1	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.68;DP=7054;ExcessHet=1.8686;FS=0.557;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.64;MQRankSum=1.86;QD=8.16;ReadPosRankSum=-2.27;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:301,0:420:99:.:.:3373,4276,15747:.	15	0	2	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	5365.69	440	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	*	5365.69	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.83;DP=7906;ExcessHet=0.7564;FS=0.625;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.059;MQ=56.57;MQRankSum=-2.836;QD=3.46;ReadPosRankSum=-0.775;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	15	0	2	2
chr11	1096142	1096142	C	0	exonic	MUC2	.	.	.	.	488	947	10	0	77	87	0.0052521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	816.39	440	chr11	1096142	.	C	*	816.39	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.868;DP=7900;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.118;MQ=56.6;MQRankSum=-1.136;QD=0.44;ReadPosRankSum=1.89;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	13	0	4	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	14	0	5	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	8	0	9	2
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	1368.84	440	chr11	1096155	.	C	G	1368.84	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.029;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	16	0	1	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:508,0:508:99:.:.:0,120,1800:.	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:476,0:476:0:.:.:0,0,11572:.	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	8	0	6	5
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1705.26	440	chr11	1096181	.	C	G	1705.26	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.036;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	13	0	1	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	9	0	6	4
chr11	1096182	1096182	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0041	0.0003	0.0005	0.0017	0.0003	0.0003	0.0011	0.0009	0.0002	0.0010	0.0005	0.0017	0.0011	0.0014	0.0003	0.0005	0.0007	0.0005	0.0020	0.0004	0.0006	0.0012	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0012	0.0004	0.0008	0.0007	0	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	1918.01	440	chr11	1096182	.	C	G	1918.01	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=1;MLEAF=0.033;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	14	0	1	4
chr11	1096199	1096199	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1971.24	440	chr11	1096199	.	C	*	1971.24	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.182;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	8	0	3	8
chr11	1096199	1096199	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0022	0.0004	0.0004	0.0020	0.0004	0.0004	0.0008	0.0005	0.0002	0.0001	0.0001	0.0003	0.0009	0.0020	0.0005	0.0004	0.0001	0.0006	0.0030	0.0006	0.0006	0.0011	0.0005	0.0004	0.0006	0.0005	0.0004	0	0.0011	0.0004	0	0.0015	0	0.0005	0.0023	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	1971.24	440	chr11	1096199	.	C	A	1971.24	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.045;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	10	0	1	8
chr11	1096203	1096203	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1903.63	440	chr11	1096203	.	C	*	1903.63	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.25;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	7	0	3	9
chr11	1096203	1096203	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0.0001	0.0001	0.0011	9.972e-05	9.256e-05	0.0003	0.0002	0.0002	5.703e-05	0.0001	0.0002	0.0008	0.0011	9.713e-05	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	9.285e-05	0.0001	0	0.0003	0.0004	0	0.0006	0	0.0002	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1903.63	440	chr11	1096203	.	C	G	1903.63	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=2;MLEAF=0.1;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	9	0	1	9
chr11	1096204	1096204	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096204	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	9	0	3	7
chr11	1096204	1096204	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.903e-05	0.0002	3.651e-05	6.272e-05	0.0004	3.589e-05	3.184e-05	3.007e-05	2.554e-05	5.541e-05	0	0	0.0002	0.0004	0.0004	4.324e-05	3.695e-05	2.866e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	9.271e-05	0.0001	7.539e-05	0.0001	0	0.0002	0	0	0.0005	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	1953.89	440	chr11	1096204	.	C	T	1953.89	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=1;MLEAF=0.042;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	11	0	1	7
chr11	1096205	1096205	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096205	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	9	0	3	7
chr11	1096205	1096205	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331715518	5.555e-05	0.0002	4.671e-05	6.521e-05	0.0004	4.131e-05	3.718e-05	3.523e-05	3.057e-05	5.486e-05	0	0.0001	0.0002	0.0004	0.0004	4.969e-05	3.663e-05	2.84e-05	0.0002	0.0014	0.0002	0.0002	0.0002	0.0001	0.0001	9.879e-05	7.189e-05	0.0002	0	0.0002	0.0005	0	0.0004	0	0.0002	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	1953.89	440	chr11	1096205	.	C	A	1953.89	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=1;MLEAF=0.042;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:457,0:457:99:.:.:0,120,1800:.	11	0	1	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:460,0:460:0:.:.:0,0,4075:.	2	0	6	11
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1594.16	460	chr11	1096212	.	C	*	1594.16	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.12;DP=6955;ExcessHet=0.1259;FS=1.152;InbreedingCoeff=-0.3818;MLEAC=3;MLEAF=0.75;MQ=56.75;MQRankSum=-4.215;QD=2.37;ReadPosRankSum=8.2;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:460,0:460:0:.:.:0,0,4075:.	1	0	1	17
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1594.16	460	chr11	1096212	.	C	T	1594.16	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.12;DP=6955;ExcessHet=0.1259;FS=1.152;InbreedingCoeff=-0.3818;MLEAC=3;MLEAF=0.75;MQ=56.75;MQRankSum=-4.215;QD=2.37;ReadPosRankSum=8.2;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:460,0:460:0:.:.:0,0,4075:.	1	0	1	17
chr11	1096217	1096217	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383411252	3.37e-05	0.0001	2.95e-05	3.804e-05	6.233e-05	2.569e-05	2.293e-05	2.618e-05	2.286e-05	3.337e-05	0	0	6.233e-05	8.061e-05	0	3.549e-05	3.635e-05	0	6.457e-05	0.0003	6.971e-05	5.912e-05	0.0001	3.332e-05	2.494e-05	2.97e-05	1.948e-05	0	0	0.0001	0.0003	0	0.0001	0	7.773e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2273.71	476	chr11	1096217	.	C	T	2273.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.026;DP=6899;ExcessHet=0;FS=6.702;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.97;MQRankSum=3.15;QD=8.3;ReadPosRankSum=-0.136;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	17	0	1	1
chr11	1096236	1096236	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175273454	0.0002	0.0003	0.0002	0.0002	0.0050	0.0002	0.0002	0.0043	0.0041	0.0050	0.0007	0	0	0	0.0005	3.986e-05	0.0004	7.907e-05	0.0017	0.0030	0.0018	0.0016	0.0057	0.0015	0.0015	0.0051	0.0048	0.0057	0	0.0011	0	0	0	0	8.926e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2228.33	476	chr11	1096236	.	C	T	2228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=6922;ExcessHet=0;FS=3.088;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=57.56;MQRankSum=1.87;QD=7.9;ReadPosRankSum=0.273;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096261	1096261	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325006662	0.0004	0.0005	0.0003	0.0005	0.0043	0.0004	0.0004	0.0036	0.0034	0.0043	0.0006	0.0015	8.784e-05	0.0002	0.0022	0.0001	0.0009	0.0026	0.0012	0.0014	0.0011	0.0013	0.0032	0.0011	0.0010	0.0028	0.0026	0.0032	0	0.0005	0.0038	0	0	0	0.0003	0.0005	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3901.83	476	chr11	1096261	.	C	T	3901.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=7115;ExcessHet=0.119;FS=1.278;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.81;MQRankSum=2.85;QD=6.18;ReadPosRankSum=1.47;SOR=0.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	17	0	2	0
chr11	1096268	1096268	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335481389	3.698e-06	2.806e-05	2.915e-06	4.503e-06	3.064e-05	1.08e-06	7.9e-07	7.6e-07	2.1e-07	0	2.932e-05	0	3.064e-05	0	0	2.845e-06	0	0	6.459e-05	0.0005	7.126e-05	5.742e-05	0.0001	2.979e-05	2.121e-05	2.918e-05	1.508e-05	0.0001	0	0.0001	0	0	0.0002	0	3.73e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1888.33	476	chr11	1096268	.	A	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.174;DP=7198;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-0.446;QD=5.99;ReadPosRankSum=0.533;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096270	1096272	GAG	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1833.29	476	chr11	1096269	.	AGAG	A	1833.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.604;DP=7202;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.44;MQRankSum=-0.536;QD=5.77;ReadPosRankSum=0.18;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096274	1096274	-	CCC	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1779.29	476	chr11	1096274	.	A	ACCC	1779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.4;DP=7205;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.62;MQRankSum=-0.831;QD=5.54;ReadPosRankSum=0.178;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2005.33	521	chr11	1096374	.	C	T	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.118;DP=5438;ExcessHet=0;FS=5.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.47;MQRankSum=-4.673;QD=6.64;ReadPosRankSum=-0.22;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:274,0:274:99:.:.:0,120,1800:.	18	0	1	0
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1777.71	135	chr11	1096594	.	C	A	1777.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.553;DP=2574;ExcessHet=0;FS=3.502;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.45;MQRankSum=-0.896;QD=9.99;ReadPosRankSum=-0.186;SOR=0.465	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	17	0	1	1
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	4941.29	59	chr11	1096645	.	C	A	4941.29	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.04;DP=2139;ExcessHet=0;FS=11.144;InbreedingCoeff=0.7059;MLEAC=2;MLEAF=0.063;MQ=55.93;MQRankSum=2.02;QD=25.99;ReadPosRankSum=2.17;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:156,0:156:99:.:.:0,120,1800:.	15	1	0	3
chr11	1096721	1096759	GTGACCCCAACCCCGACACCCATCTCCACCACCACTACA	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0008	0.0042	0.0042	0.0090	0.0037	0.0036	0.0058	0.0047	0.0016	0.0029	0.0051	0.0090	0.0020	0.0040	0.0039	0.0033	0.0055	0	0.0001	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	353.39	23	chr11	1096720	.	GGTGACCCCAACCCCGACACCCATCTCCACCACCACTACA	G	353.39	.	AC=1;AF=0.05;AN=20;DP=552;ExcessHet=0;FS=8.659;InbreedingCoeff=0.2408;MLEAC=2;MLEAF=0.1;MQ=49.63;MQRankSum=2.79;QD=7.85;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:42:.:.:0,42,630:.	9	0	1	9
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	1270.81	25	chr11	1096735	.	G	*	1270.81	.	AC=1;AF=0.042;AN=24;BaseQRankSum=2.54;DP=636;ExcessHet=5.6323;FS=112.526;InbreedingCoeff=-0.2324;MLEAC=1;MLEAF=0.042;MQ=47.61;MQRankSum=-1.354;QD=6.2;ReadPosRankSum=0.906;SOR=3.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:30:99:.:.:341,401,870:.	11	0	1	7
chr11	1096742	1096745	ATCT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	252.74	27	chr11	1096742	.	ATCT	*	252.74	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.76;DP=688;ExcessHet=0.4742;FS=24.543;InbreedingCoeff=0.2231;MLEAC=1;MLEAF=0.033;MQ=49.61;MQRankSum=-0.318;QD=1.96;ReadPosRankSum=-1.332;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:38,0:45:99:0|1:1096742_ATCT_A:160,275,1733:1096742	14	0	1	4
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	C	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:38,0:45:99:0|1:1096742_ATCT_A:160,275,1733:1096742	6	0	3	10
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	*	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:1096742_ATCT_A:160,0,1438:1096742	6	0	3	10
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	49.9	24	chr11	1096745	.	T	G	49.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=2;MLEAF=0.125;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:38,0:45:99:0|1:1096742_ATCT_A:160,275,1733:1096742	7	0	1	11
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	49.9	24	chr11	1096745	.	T	*	49.9	.	AC=3;AF=0.188;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=5;MLEAF=0.313;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:1096742_ATCT_A:160,0,1438:1096742	5	0	3	11
chr11	1096746	1096746	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.388e-05	0.0016	9.128e-05	8.14e-05	0.0009	0.0007	0.0016	0.0001	0	0	0.0001	0.0009	8.058e-05	0.0002	7.458e-05	0	9.879e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	48.36	27	chr11	1096746	.	C	G	48.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=709;ExcessHet=0.1773;FS=8.399;InbreedingCoeff=0.2112;MLEAC=2;MLEAF=0.1;MQ=42.25;MQRankSum=-1.406;QD=0.68;ReadPosRankSum=-1.861;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	9	0	1	9
chr11	1096746	1096746	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	48.36	27	chr11	1096746	.	C	*	48.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=709;ExcessHet=0.1773;FS=8.399;InbreedingCoeff=0.2112;MLEAC=2;MLEAF=0.1;MQ=42.25;MQRankSum=-1.406;QD=0.68;ReadPosRankSum=-1.861;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	9	0	1	9
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	188.79	28	chr11	1096749	.	C	G	188.79	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.03;DP=744;ExcessHet=0.4742;FS=19.98;InbreedingCoeff=0.2231;MLEAC=2;MLEAF=0.067;MQ=49.36;MQRankSum=0;QD=1.47;ReadPosRankSum=-2.639;SOR=1.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,6:44:99:0|1:1096742_ATCT_A:138,0,1415:1096742	13	0	2	4
chr11	1096749	1096749	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	188.79	28	chr11	1096749	.	C	*	188.79	.	AC=1;AF=0.033;AN=30;BaseQRankSum=4.03;DP=744;ExcessHet=0.4742;FS=19.98;InbreedingCoeff=0.2231;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=1.47;ReadPosRankSum=-2.639;SOR=1.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:38,0:44:99:0|1:1096742_ATCT_A:138,252,1685:1096742	14	0	1	4
chr11	1096784	1096784	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	795	726	1	0	0	1	0.000688231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482281853	0.0014	0.0017	0.0015	0.0012	0.0529	0.0013	0.0013	0.0500	0.0488	0.0529	0.0024	0.0002	0.0004	0.0001	0.0018	0.0002	0.0024	0.0005	0.0013	0.0067	0	0.0024	0.0025	0	0	.	.	0	.	0	0	0	0	0	0.0025	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	195.13	26	chr11	1096784	.	G	A	195.13	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.79;DP=675;ExcessHet=0;FS=11.812;InbreedingCoeff=0.4584;MLEAC=1;MLEAF=0.033;MQ=43.84;MQRankSum=1.24;QD=6.1;ReadPosRankSum=-3.203;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,117,1174:.	14	0	1	4
chr11	1096872	1096872	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	831	689	0	2	0	4	0.00289436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245511194	0.0010	0.0009	0.0008	0.0011	0.0047	0.0009	0.0009	0.0023	0.0017	0.0015	0.0002	0	5.595e-05	7.46e-05	0.0047	0.0010	0.0009	0.0016	0.0004	0.0002	0.0008	0	0.0009	0	0	.	.	0	0	0	0	0	0	0	0.0009	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1340.34	28	chr11	1096872	.	C	T	1340.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=762;ExcessHet=0;FS=6.581;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=42.47;MQRankSum=-0.511;QD=19.43;ReadPosRankSum=1.05;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:81:0,81,1215	18	0	1	0
chr11	1096958	1096958	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.33	35	chr11	1096958	.	A	C	187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.819;DP=1133;ExcessHet=0;FS=5.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.68;MQRankSum=-1.019;QD=5.35;ReadPosRankSum=0.957;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,99,1800:.	18	0	1	0
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	141.33	47	chr11	1097057	.	A	G	141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.819;DP=1432;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.55;MQRankSum=0.05;QD=4.87;ReadPosRankSum=-0.661;SOR=0.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800:.	18	0	1	0
chr11	1097222	1097222	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	635	885	1	0	1	2	0.000564653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0673042603505	.	.	0.0003	0.0013	0	0	0	0.0003	0	0	1.29e-05	2	154602	.	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	3.512e-05	8.711e-05	0	0	0.0012	0	0.0002	0.0001	8.237e-05	4.941e-05	8.692e-05	2.751e-05	7.251e-05	6.941e-05	2.251e-05	1.618e-05	2.063e-05	1.285e-05	0	0	6.941e-05	0	0	0.0002	0	6.269e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	676.71	89	chr11	1097222	.	C	A	676.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.85;DP=3478;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=34.94;MQRankSum=-0.037;QD=5.83;ReadPosRankSum=1.98;SOR=0.591	GT:AD:DP:GQ:PL	0/0:324,0:324:99:0,120,1800	17	0	1	1
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	327.67	89	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	327.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.138;DP=3127;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=38.56;MQRankSum=0.398;QD=1.22;ReadPosRankSum=-7.659;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:188,0:188:99:.:.:0,120,1800:.	17	0	1	1
chr11	1097436	1097436	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	1	223	2	0	0	2	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0482318403546	.	.	0.0005	0.0007	0	0	0	0.0003	0	0.0008	5.82e-05	9	154602	rs1255753096	0.0015	0.0019	0.0015	0.0015	0.0015	0.0014	0.0013	0.0014	0.0013	0.0009	0.0009	0.0006	0.0010	0.0053	0.0005	0.0015	0.0015	0.0006	0.0004	0.0009	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0005	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.151303	0.221053	0.051095	0.078947	0.285714	0.060000	0.204762	0.156250	0.1429	584.88	143	chr11	1097436	.	C	G	584.88	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.74;DP=2821;ExcessHet=0.119;FS=1.407;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.286;MQ=35.95;MQRankSum=0.057;QD=3.18;ReadPosRankSum=-2.069;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:99:.:.:0,120,1800:.	5	0	2	12
chr11	1097518	1097586	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN	.	622	891	5	3	1	12	0.00613497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0045	0.0018	0.0030	0.0024	0.0023	0.0023	0.0023	0.0023	0.0024	0.0021	0.0018	0.0008	0.0052	0.0019	0.0024	0.0033	0.0019	4.707e-05	0.0008	1.834e-05	7.737e-05	8.495e-05	1.776e-05	1.199e-05	2.881e-05	1.734e-05	0	0	0	0	0	0.0002	0	8.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	312.29	150	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C	312.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.484;DP=3107;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.69;MQRankSum=-1.306;QD=4.22;ReadPosRankSum=1.34;SOR=0.513	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	18	0	1	0
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	251.63	150	chr11	1097520	.	T	G	251.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.382;DP=3161;ExcessHet=0.119;FS=5.251;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.031;MQ=35.8;MQRankSum=-1.296;QD=1.52;ReadPosRankSum=1.74;SOR=1.22	GT:AD:DP:GQ:PL	./.:198,0:198:0:0,0,4724	15	0	1	3
chr11	1097520	1097520	T	0	exonic	MUC2	.	.	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	251.63	150	chr11	1097520	.	T	*	251.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.382;DP=3161;ExcessHet=0.119;FS=5.251;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.031;MQ=35.8;MQRankSum=-1.296;QD=1.52;ReadPosRankSum=1.74;SOR=1.22	GT:AD:DP:GQ:PL	./.:198,0:198:0:0,0,4724	15	0	1	3
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7507.2	150	chr11	1097542	.	C	T	7507.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	15	0	3	1
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	7507.2	150	chr11	1097542	.	C	*	7507.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.028;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	17	0	1	1
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	119.66	150	chr11	1097560	.	A	*	119.66	.	AC=2;AF=0.083;AN=24;BaseQRankSum=1.07;DP=2473;ExcessHet=0;FS=0;InbreedingCoeff=0.1632;MLEAC=3;MLEAF=0.125;MQ=32.05;MQRankSum=0.01;QD=5.44;ReadPosRankSum=-1.465;SOR=1.102	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	11	1	0	7
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	54.14	107	chr11	1097805	.	C	A	54.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.773;DP=1748;ExcessHet=0.119;FS=23.929;InbreedingCoeff=-0.0967;MLEAC=1;MLEAF=0.031;MQ=34.48;MQRankSum=0.096;QD=0.36;ReadPosRankSum=0.645;SOR=3.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:121,0:121:99:.:.:0,120,1800:.	14	0	2	3
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,12:113:21:.:.:21,0,3203:.	7	0	6	6
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.24	104	chr11	1098120	.	C	A	172.24	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.076;DP=2337;ExcessHet=0.119;FS=7.88;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.071;MQ=35.1;MQRankSum=-0.242;QD=0.63;ReadPosRankSum=-2.129;SOR=0.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:118,0:118:99:.:.:0,120,1800:.	12	0	2	5
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	228.25	102	chr11	1098124	.	C	T	228.25	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.771;DP=2209;ExcessHet=0.119;FS=11.487;InbreedingCoeff=-0.3324;MLEAC=5;MLEAF=0.625;MQ=33.92;MQRankSum=-0.034;QD=0.9;ReadPosRankSum=-2.408;SOR=0.133	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:115,0:115:0:.:.:0,0,3415:.	2	0	2	15
chr11	1098431	1098431	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368067328	0.0015	0.0015	0.0015	0.0014	0.0043	0.0013	0.0013	0.0031	0.0027	0.0043	0.0011	0.0008	0.0009	0.0020	0	0.0017	0.0022	0.0003	0.0015	0.0011	0.0020	0.0012	0.0042	0.0006	0.0004	0.0007	0.0003	0.0014	0	0.0042	0	0	0.0040	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.35	71	chr11	1098431	.	C	A	61.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.548;DP=885;ExcessHet=0;FS=3.694;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=44.7;MQRankSum=-3.116;QD=1.25;ReadPosRankSum=-0.181;SOR=0.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1325:.	18	0	1	0
chr11	1098588	1098588	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372350616	2.267e-05	0.0001	1.733e-05	2.814e-05	0.0002	1.625e-05	1.416e-05	1.527e-05	1.283e-05	0	0	0	0	0.0001	0.0002	2.258e-05	1.752e-05	1.286e-05	4.962e-05	0.0002	4.81e-05	5.123e-05	0.0003	2.081e-05	1.469e-05	2.308e-05	1.383e-05	3.244e-05	0	0	0	0.0003	0	0	6.894e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	151	chr11	1098588	.	G	A	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.939;DP=4397;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.27;MQRankSum=0.603;QD=5.06;ReadPosRankSum=4.69;SOR=0.959	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:333,0:333:99:.:.:0,120,1800:.	18	0	1	0
chr11	1098597	1098597	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429188136	0.0009	0.0016	0.0008	0.0010	0.0068	0.0008	0.0008	0.0059	0.0055	0.0007	0.0026	0.0012	0.0026	0.0025	0	0.0006	0.0014	0.0068	0.0055	0.0073	0.0057	0.0052	0.0112	0.0045	0.0042	0.0069	0.0056	0.0073	0	0.0112	0	0.0046	0.0054	0	0.0043	0.0046	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	157.14	151	chr11	1098597	.	G	A	157.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.897;DP=4787;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.268;MLEAC=2;MLEAF=0.2;MQ=50.01;MQRankSum=-0.129;QD=2.96;ReadPosRankSum=4.77;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:373,0:373:0:.:.:0,0,7056:.	4	0	1	14
chr11	1098605	1098605	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.171e-06	1.642e-05	1.428e-06	2.934e-06	1.28e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.863e-06	0	1.28e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	108.33	151	chr11	1098605	.	C	A	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=4421;ExcessHet=0;FS=2.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.57;MQRankSum=-0.175;QD=1.64;ReadPosRankSum=4.22;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:291,0:291:99:.:.:0,120,1800:.	18	0	1	0
chr11	1098606	1098606	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.953e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	105.33	151	chr11	1098606	.	C	T	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=4422;ExcessHet=0;FS=2.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.49;MQRankSum=-0.154;QD=1.57;ReadPosRankSum=4.07;SOR=1.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:291,0:291:99:.:.:0,120,1800:.	18	0	1	0
chr11	1098608	1098608	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186298516	1.173e-05	9.455e-05	1.447e-05	8.912e-06	0.0001	6.94e-06	5.62e-06	3.866e-05	2.295e-05	0	0.0001	0	0	2.618e-05	0	9.418e-06	0	1.284e-05	2.437e-05	0.0002	3.136e-05	1.686e-05	3.339e-05	6.48e-06	2.8e-06	5.54e-06	2.07e-06	3.108e-05	0	0	0	0	0	0	3.339e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	151	chr11	1098608	.	A	G	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=4423;ExcessHet=0;FS=2.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.18;MQRankSum=-0.08;QD=1.5;ReadPosRankSum=3.8;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:291,0:291:99:.:.:0,120,1800:.	18	0	1	0
chr11	1098612	1098612	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436789669	0.0001	0.0007	0.0001	0.0001	0.0003	0.0001	9.618e-05	0.0002	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	8.532e-05	0.0002	0.0003	0.0005	0.0011	0.0004	0.0005	0.0012	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0004	0.0006	0	0.0004	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.33	441	chr11	1098612	.	G	C	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=4834;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.8;MQRankSum=-0.025;QD=1.31;ReadPosRankSum=3.49;SOR=1.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:291,0:291:99:.:.:0,120,1800:.	18	0	1	0
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	301.13	461	chr11	1098628	.	C	G	301.13	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.4;DP=4936;ExcessHet=0.3672;FS=5.27;InbreedingCoeff=-0.1157;MLEAC=3;MLEAF=0.088;MQ=49.5;MQRankSum=-3.884;QD=0.32;ReadPosRankSum=0.566;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:291,0:291:99:.:.:0,120,1800:.	14	0	3	2
chr11	1098698	1098698	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1272151093	0.0010	0.0043	0.0007	0.0013	0.0049	0.0010	0.0009	0.0032	0.0027	0.0016	0.0008	0.0003	0.0013	0.0006	0.0049	0.0010	0.0013	0.0005	0.0011	0.0045	0.0012	0.0011	0.0018	0.0010	0.0009	0.0014	0.0012	0.0018	0	0.0010	0.0013	0.0012	0.0011	0.0147	0.0008	0.0008	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	856.56	422	chr11	1098698	.	C	T	856.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.97;DP=4575;ExcessHet=0;FS=0.672;InbreedingCoeff=0.1555;MLEAC=1;MLEAF=0.031;MQ=43.15;MQRankSum=-2.916;QD=6.07;ReadPosRankSum=0.272;SOR=0.624	GT:AD:DP:GQ:PL	0/0:291,0:291:99:0,120,1800	15	0	1	3
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	236.17	272	chr11	1098766	.	CCACGG	C	236.17	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.099;DP=3773;ExcessHet=0.1259;FS=2.931;InbreedingCoeff=0.0337;MLEAC=2;MLEAF=0.067;MQ=40.25;MQRankSum=-1.745;QD=0.75;ReadPosRankSum=1.08;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:250,0:250:0:.:.:0,0,6794:.	13	0	2	4
chr11	1098946	1098948	CAA	-	exonic	MUC2	.	unknown	UNKNOWN	.	771	750	1	0	0	1	0.000666223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410964135	0.0009	0.0025	0.0007	0.0011	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0004	0.0009	0	0.0028	0	0.0010	0.0009	0.0003	0.0007	0.0011	0.0006	0.0008	0.0017	0.0006	0.0005	0.0006	0.0006	0	0	0.0004	0.0006	0	0.0019	0	0.0009	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	93.1	95	chr11	1098945	.	CCAA	C	93.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.031;DP=1395;ExcessHet=0;FS=3.921;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=31.56;MQRankSum=-1.233;QD=1.16;ReadPosRankSum=-1.606;SOR=0.209	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	16	0	1	2
chr11	1098950	1098950	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	797	724	1	0	0	1	0.000690131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs62637244	0.0201	0.0078	0.0200	0.0202	0.0382	0.0196	0.0194	0.0357	0.0347	0.0239	0.0175	0.0200	0.0228	0.0208	0.0066	0.0179	0.0231	0.0382	0.0062	0.0072	0.0058	0.0067	0.0090	0.0052	0.0048	0.0052	0.0042	0.0078	0.0114	0.0090	0.0025	0	0.0079	0	0.0057	0.0061	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	894.4	88	chr11	1098950	.	A	C	894.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.381;DP=1359;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=29.37;MQRankSum=2.88;QD=7.45;ReadPosRankSum=0.383;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:106:99:.:.:0,120,1800:.	15	0	2	2
chr11	1098957	1098957	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.961e-06	5.974e-06	0	3.706e-06	3.126e-06	0	0	.	.	0	0	0	0	0	0	3.126e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	470.14	70	chr11	1098957	.	C	G	470.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.785;DP=1288;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=31.88;MQRankSum=2.56;QD=15.17;ReadPosRankSum=-0.441;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	16	0	1	2
chr11	1098974	1098974	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs12573875	0.0007	0.0017	0.0007	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0010	0.0009	0.0007	0.0012	0.0005	0.0012	0.0006	0.0008	0.0009	0.0002	0.0005	0.0002	9.752e-05	0.0003	7.834e-05	5.55e-05	5.527e-05	3.375e-05	0.0003	0	0	0.0008	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	142.71	71	chr11	1098974	.	C	T	142.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.5;DP=1214;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=31.06;MQRankSum=0;QD=6.2;ReadPosRankSum=0.588;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	17	0	1	1
chr11	1098983	1098983	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766070868	3.072e-05	9.27e-05	3.561e-05	2.606e-05	3.591e-05	2.045e-05	1.708e-05	2.296e-05	1.949e-05	0	0	0.0001	0	3.451e-05	0	3.591e-05	2.866e-05	0	1.624e-05	5.462e-05	3.17e-05	0	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	136.71	63	chr11	1098983	.	C	A	136.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.222;DP=1065;ExcessHet=0;FS=2.241;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=31.46;MQRankSum=-0.316;QD=5.47;ReadPosRankSum=-0.32;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:99:.:.:0,120,1800:.	17	0	1	1
chr11	1099046	1099046	G	0	exonic	MUC2	.	.	.	.	714	672	60	2	74	138	0.0454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4081.72	134	chr11	1099046	.	G	*	4081.72	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.15;DP=1672;ExcessHet=2.9153;FS=8.54;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.071;MQ=39.03;MQRankSum=1.89;QD=7.07;ReadPosRankSum=0.028;SOR=1.24	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,1572:.	12	0	2	5
chr11	1099065	1099065	C	0	exonic	MUC2	.	.	.	.	675	709	63	4	71	142	0.047683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	4992.6	184	chr11	1099065	.	C	*	4992.6	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.608;DP=2007;ExcessHet=2.9153;FS=8.491;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.036;MQ=39.24;MQRankSum=0.547;QD=7.15;ReadPosRankSum=-0.533;SOR=1.272	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:146,0:146:0:.:.:0,0,2250:.	13	0	1	5
chr11	1099089	1099089	A	0	exonic	MUC2	.	.	.	.	675	729	53	0	65	118	0.0350761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	3863.89	245	chr11	1099089	.	A	*	3863.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.03;DP=2644;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.045;MQ=41.85;MQRankSum=-0.516;QD=7.17;ReadPosRankSum=-0.131;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0:189:0:.:.:0,0,2939:.	10	0	1	8
chr11	1099146	1099146	C	0	exonic	MUC2	.	.	.	.	548	884	30	2	58	92	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	1287.08	379	chr11	1099146	.	C	*	1287.08	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.89;DP=3408;ExcessHet=0.119;FS=14.819;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.033;MQ=45.88;MQRankSum=2.95;QD=4.56;ReadPosRankSum=-3.026;SOR=1.15	GT:AD:DP:GQ:PL	0/0:274,0:274:99:0,120,1800	14	0	1	4
chr11	1099161	1099161	A	0	exonic	MUC2	.	.	.	.	562	844	61	0	55	116	0.0348771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	4001.13	438	chr11	1099161	.	A	*	4001.13	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.024;DP=4043;ExcessHet=1.3;FS=4.63;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.042;MQ=48.11;MQRankSum=-5.005;QD=4.3;ReadPosRankSum=3.45;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:334,0:334:0:.:.:0,0,7347:.	11	0	1	7
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,213:336:99:.:.:3510,0,2976:.	6	0	6	7
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,213:343:99:.:.:8720,4213,4466:.	10	0	9	0
chr11	1099415	1099415	C	0	exonic	MUC2	.	.	.	.	554	933	23	0	12	35	0.0121758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	324.19	223	chr11	1099415	.	C	*	324.19	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.507;DP=5994;ExcessHet=0.3476;FS=1.872;InbreedingCoeff=0.1265;MLEAC=3;MLEAF=0.375;MQ=50.32;MQRankSum=4.16;QD=1.04;ReadPosRankSum=-1.363;SOR=0.807	GT:AD:DP:GQ:PL	./.:403,0:403:0:0,0,0	3	0	1	15
chr11	1099525	1099525	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0478116854228	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.76e-05	12	154602	rs746097670	0.0001	0.0011	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	3.451e-05	0	4.45e-05	0	2.277e-05	0.0004	0.0002	0.0001	8.25e-05	9.239e-05	0.0002	5.164e-05	0.0001	0.0002	5.551e-05	4.383e-05	9.087e-05	7.04e-05	2.417e-05	0	6.569e-05	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001190	0.000000	0.001761	0.003356	0.000000	0.000000	0.000000	0.000000	0.02778	568.71	499	chr11	1099525	.	C	T	568.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.518;DP=7594;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=54.61;MQRankSum=1.78;QD=1.87;ReadPosRankSum=1.4;SOR=0.56	GT:AD:DP:GQ:PL	0/0:478,0:478:99:0,120,1800	17	0	1	1
chr11	1101885	1101885	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	250	1271	1	0	0	1	0.000393236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0196272970345	0.0002	.	0.0001	0	0.0001	0	0	0.0002	0	0.0001	0.0001035	16	154602	rs41368246	7.004e-05	7.73e-05	6.282e-05	7.733e-05	5.987e-05	5.868e-05	5.477e-05	3.003e-05	2.675e-05	5.987e-05	2.249e-05	0.0017	0	0	0	3.963e-05	8.3e-05	5.834e-05	7.883e-05	7.88e-05	8.99e-05	6.724e-05	0.0002	4.496e-05	3.512e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0.0014	0	9.414e-05	0	5.879e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1488.33	40	chr11	1101885	.	C	T	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=799;ExcessHet=0;FS=8.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.387;SOR=1.341	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	18	0	1	0
chr11	1179191	1179191	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon26:c.G3427A:p.A1143T	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944671749	3.976e-05	4.919e-05	4.549e-05	3.492e-05	3.928e-05	2.653e-05	2.167e-05	2.193e-05	1.752e-05	0	0	0	0	0.0002	0	3.928e-05	0.0001	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.37301	.	.	.	.	.	.	.	0.36594468	0.53101	T	.	.	.	.	.	.	.	.	.	0.6154594514231304	0.61477	.	.	.	.	.	0.27038	0.64264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.789	0.78488	D	.	.	0.441	0.61745	A	.	.	4.012719	0.59210	24.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.693000	0.74409	9.540000	0.80961	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	.	.	.	.	.	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1011.33	46	chr11	1179191	.	G	A	1011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.72;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.258;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	18	0	1	0
chr11	1182343	1182343	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C4198T:p.R1400W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445799865	3.249e-05	2.226e-05	4.117e-05	2.404e-05	0.0001	1.596e-05	1.108e-05	2.1e-06	7.9e-07	0	0.0001	0	0	0.0001	0	1.266e-05	0.0001	0	4.595e-05	4.593e-05	6.423e-05	2.685e-05	0.0004	2.107e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0.0004	0.0002	0	1.47e-05	0	0.0004	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.11048278	0.20653	T	.	.	.	.	.	.	.	.	.	0.34860281700831824	0.34774	.	.	.	.	.	0.190041	0.54446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.054	0.46728	T	.	.	0.086	0.10739	B	.	.	2.400276	0.30838	18.56	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.400000	0.07302	-0.798000	0.07386	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	91	chr11	1182343	.	C	T	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=1928;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.261;SOR=0.818	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr11	1185014	1185037	CCAGAACAACCTCTGCCTCTCCAG	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.6869_6892del:p.R2291_A2298del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0042	0.0036	0.0032	0.0081	0.0032	0.0032	0.0069	0.0065	0.0081	0.0034	0.0027	0.0030	0.0027	0.0020	0.0035	0.0037	0.0021	0.0024	0.0028	0.0025	0.0022	0.0029	0.0022	0.0021	0.0025	0.0023	0.0029	0.0044	0.0017	0.0009	0.0021	0.0043	0.0035	0.0019	0.0033	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7572.29	624	chr11	1185013	.	ACCAGAACAACCTCTGCCTCTCCAG	A	7572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.08;DP=10159;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.41;MQRankSum=-7.094;QD=8.84;ReadPosRankSum=5.52;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185018	1185018	A	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	50751.3	624	chr11	1185018	.	A	*	50751.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=4.15;DP=12218;ExcessHet=2.0135;FS=3.282;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.18;MQRankSum=-9.077;QD=12.06;ReadPosRankSum=4.89;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	13	0	1	5
chr11	1185024	1185024	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	48607.3	624	chr11	1185024	.	C	*	48607.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.84;DP=12265;ExcessHet=2.0135;FS=2.55;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.2;MQRankSum=-9.539;QD=11.39;ReadPosRankSum=5.45;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	13	0	1	5
chr11	1185029	1185029	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	45510.3	624	chr11	1185029	.	C	*	45510.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.667;DP=12278;ExcessHet=2.0135;FS=3.398;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.19;MQRankSum=-10.05;QD=10.71;ReadPosRankSum=5.14;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	13	0	1	5
chr11	1185031	1185031	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	44264.3	624	chr11	1185031	.	T	*	44264.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.102;DP=12255;ExcessHet=2.0135;FS=3.427;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.19;MQRankSum=-10.27;QD=10.41;ReadPosRankSum=4.63;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	13	0	1	5
chr11	1185033	1185033	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3688.43	624	chr11	1185033	.	T	*	3688.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=11992;ExcessHet=0.119;FS=0.577;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.68;MQRankSum=-6.505;QD=2.49;ReadPosRankSum=-2.062;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185034	1185034	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	42678.0	624	chr11	1185034	.	C	*	42678.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.525;DP=12063;ExcessHet=2.0135;FS=3.459;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.18;MQRankSum=-10.77;QD=9.99;ReadPosRankSum=3.75;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	14	0	1	4
chr11	1185037	1185037	G	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	41204.0	624	chr11	1185037	.	G	*	41204.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.297;DP=12138;ExcessHet=2.0135;FS=3.496;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.2;MQRankSum=-10.85;QD=9.54;ReadPosRankSum=3.14;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	14	0	1	4
chr11	1185047	1185047	C	-	exonic	MUC5AC	.	frameshift deletion	MUC5AC:NM_001304359:exon31:c.6902delC:p.S2302Lfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0027	0.0025	0.0021	0.0058	0.0022	0.0021	0.0048	0.0044	0.0058	0.0020	0.0021	0.0019	0.0022	0.0015	0.0024	0.0026	0.0012	0.0020	0.0023	0.0021	0.0019	0.0024	0.0018	0.0017	0.0020	0.0019	0.0024	0.0044	0.0012	0.0003	0.0021	0.0041	0.0068	0.0016	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7517.29	624	chr11	1185046	.	AC	A	7517.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=11972;ExcessHet=0;FS=1.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.33;MQRankSum=-7.404;QD=9.2;ReadPosRankSum=0.778;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185047	1185047	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	35179.0	624	chr11	1185047	.	C	*	35179.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.04;DP=12119;ExcessHet=2.0135;FS=3.611;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.21;MQRankSum=-11.45;QD=8.22;ReadPosRankSum=-0.667;SOR=0.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	14	0	1	4
chr11	1185050	1185120	CTGGTCCTGGAAATACTCCCAGCCCTGTTCCTACCACCAGCACAATCTCTGCTCCTACAACTAGCATAACC	-	exonic	MUC5AC	.	frameshift deletion	MUC5AC:NM_001304359:exon31:c.6905_6975del:p.S2302Ffs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0025	0.0015	0.0014	0.0044	0.0014	0.0013	0.0036	0.0033	0.0044	0.0008	0.0012	0.0011	0.0018	0.0010	0.0015	0.0018	0.0005	0.0016	0.0022	0.0017	0.0014	0.0022	0.0014	0.0013	0.0018	0.0017	0.0022	0.0044	0.0009	0.0003	0.0016	0.0033	0.0034	0.0011	0.0019	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5929.29	624	chr11	1185049	.	TCTGGTCCTGGAAATACTCCCAGCCCTGTTCCTACCACCAGCACAATCTCTGCTCCTACAACTAGCATAACC	T	5929.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=12491;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=-9.714;QD=4.56;ReadPosRankSum=-0.049;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185057	1185059	TGG	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	28735.8	624	chr11	1185057	.	TGG	*	28735.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.227;DP=12672;ExcessHet=2.0135;FS=5.022;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=58.25;MQRankSum=-12.74;QD=6;ReadPosRankSum=-2.47;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185062	1185062	A	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	23152.9	624	chr11	1185062	.	A	*	23152.9	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.58;DP=14671;ExcessHet=2.0135;FS=4.853;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.95;MQRankSum=-11.16;QD=4.34;ReadPosRankSum=-3.575;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	14	0	1	4
chr11	1185069	1185069	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	21253.0	624	chr11	1185069	.	C	*	21253.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.391;DP=13100;ExcessHet=2.0135;FS=2.898;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.29;MQRankSum=-14.52;QD=4.16;ReadPosRankSum=-7.401;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	14	0	1	4
chr11	1185095	1185095	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4596.08	624	chr11	1185095	.	T	*	4596.08	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=13305;ExcessHet=0.7564;FS=3.158;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-19.84;QD=1.12;ReadPosRankSum=-11.03;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	18	0	1	0
chr11	1185103	1185103	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1328.21	624	chr11	1185103	.	C	*	1328.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.09;DP=13231;ExcessHet=0.119;FS=3.193;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=58.15;MQRankSum=-26.17;QD=0.58;ReadPosRankSum=-9.95;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	16	0	1	2
chr11	1185111	1185111	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	274.21	624	chr11	1185111	.	T	*	274.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.62;DP=13273;ExcessHet=0.119;FS=4.292;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=58.57;MQRankSum=-26.48;QD=0.12;ReadPosRankSum=-9.109;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	16	0	1	2
chr11	1185125	1185125	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6980T:p.A2327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0024	0.0016	0.0014	0.0045	0.0014	0.0014	0.0037	0.0034	0.0045	0.0009	0.0014	0.0011	0.0017	0.0010	0.0016	0.0020	0.0005	0.0017	0.0020	0.0018	0.0015	0.0022	0.0015	0.0014	0.0018	0.0017	0.0022	0.0044	0.0009	0.0003	0.0017	0.0034	0.0068	0.0012	0.0024	0.0015	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.030103236	0.01137	T	.	.	.	.	.	.	.	.	.	0.08657609751082218	0.08591	.	.	.	.	.	0.049322	0.28273	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.66	0.51508	T	.	.	0.094	0.14568	B	.	.	0.071562	0.04796	1.408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.225000	0.03066	-0.365000	0.09647	0.274000	0.18563	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	6018.71	624	chr11	1185125	.	C	T	6018.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.691;DP=12714;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.43;MQRankSum=-10.24;QD=5.72;ReadPosRankSum=-3.085;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:456,0:456:99:.:.:0,120,1800:.	17	0	1	1
chr11	1185292	1185292	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G7147A:p.A2383T	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343880081	5.782e-06	4.772e-06	8.515e-06	3.522e-06	0.0003	1.54e-06	4.3e-07	.	.	0	0	0	0	0	0.0003	0	7.07e-05	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.385	0.15746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.05926624	0.07098	T	.	.	.	.	.	.	.	.	.	0.08424292622584172	0.08358	.	.	.	.	.	0.027712	0.20236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.070	0.03588	B	.	.	-0.532775	0.01765	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.165000	0.00635	-7.785000	0.01086	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	25128.9	624	chr11	1185292	.	G	A	25128.9	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.661;DP=16019;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.2063;MLEAC=3;MLEAF=0.15;MQ=59.94;MQRankSum=1.35;QD=12.77;ReadPosRankSum=1.21;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:495,451:946:99:.:.:11757,0,13040:.	8	0	2	9
chr11	1191075	1191146	AACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.12930_13001del:p.T4319_G4342del	.	444	1059	3	0	16	19	0.00141443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.02e-05	0.0038	2.593e-05	3.374e-05	0.0002	1.887e-05	1.556e-05	8.261e-05	5.007e-05	0.0002	0	0	5.705e-05	2.702e-05	0	1.76e-05	6.279e-05	4.44e-05	0.0020	0.0043	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0014	0.0011	0.0013	0.0017	0.0012	0.0031	0.0034	0.0025	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	391.29	356	chr11	1191074	.	CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	C	391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.162;DP=10308;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.01;MQRankSum=-23.68;QD=0.28;ReadPosRankSum=-0.966;SOR=0.787	GT:AD:DP:GQ:PL	0/0:283,0:283:99:0,120,1800	18	0	1	0
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I	.	419	1075	27	1	0	29	0.0133089	.	.	.	175096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020182	0.015152	0.020492	0.035088	0.000000	0.051724	0.015337	0.007576	0.02632	1162.33	35	chr11	1226857	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=749;ExcessHet=0;FS=4.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.063;SOR=0.322	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	1228604	1228604	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon8:c.C815T:p.A272V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0777755795875	.	0.000399361	0.0018	0	0	0	0	0	0	0.0031	0.0001682	26	154602	rs560329506	0.0002	0.0002	8.869e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	3.181e-05	0	0	0	2.893e-05	0.0005	1.022e-05	0.0002	0.0025	0.0001	0.0001	1.285e-05	0.0003	0.0039	9.143e-05	7.699e-05	0.0026	0.0021	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0039	0.135	0.26192	T	.	.	.	0.133	0.27236	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	2.1	0.58353	M	-1.19	0.78427	T	-1.87	0.43717	N	0.187	0.20395	-0.7295	0.58989	T	0.287	0.65928	T	9	0.012890369	0.00275	T	0.077776	0.72851	D	0.247	0.55478	.	.	0.461779004028	0.45804	0.6237491184128012	0.62307	.	.	0.467257022858	0.34304	T	0.017405	0.14204	T	-0.409508	0.02003	T	-0.367173	0.37220	T	0.0207872725965371	0.00778	T	0.156584	0.01380	T	0.031108715	0.02892	0.05482342	0.09501	0.031108715	0.02892	0.05482342	0.09500	-5.754	0.44172	T	.	.	0.094	0.14293	B	.	.	0.894304	0.12679	9.202	0.82902409846127589	0.14436	0.02856	0.07618	N	AEFDBI	0.065186	0.12701	N	-0.774348764005747	0.13980	0.6928143	-0.980069036951841	0.10233	0.5140906	2.22202251856024E-4	0.06048	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.48	-2.52	0.05978	0.150000	0.16082	-0.563000	0.08467	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1359:0.4753:0.1329:0.2558	1.899	0.03065	970	0.06235	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	562.33	34	chr11	1228604	.	C	T	562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.435;DP=695;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.391;SOR=0.88	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,112,1468	18	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5246.83	253	chr11	1243062	.	C	G	5246.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.23;DP=2429;ExcessHet=0.119;FS=2.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=49.86;MQRankSum=-0.112;QD=11.98;ReadPosRankSum=2.37;SOR=0.917	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	17	0	2	0
chr11	1243709	1243709	A	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A6829T:p.T2277S	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00398141172649	.	0.000998403	0.0009	0	8.643e-05	0	0	3.005e-05	0	0.0067	0.0001921	5	26028	rs566783011	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	2.519e-05	0	0.0021	1.259e-05	0.0004	0.0066	0.0002	0.0002	6.503e-05	0.0003	0.0062	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0	0	0	0.0062	0.378	0.11262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.77	0.25841	T	-0.48	0.15379	N	0.068	0.04072	-1.0267	0.21527	T	0.054	0.22959	T	9	0.0059332848	0.00133	T	0.003981	0.09431	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.2536995402099471	0.25283	.	.	0.205650538206	0.00640	T	0.024053	0.18250	T	-0.590838	0.00166	T	-0.618306	0.11317	T	0.0148934294328664	0.00316	T	0.242476	0.03503	T	0.029871758	0.02553	0.032949828	0.02110	0.029871758	0.02553	0.032949828	0.02109	-4.04	0.24400	T	.	.	0.160	0.35393	B	.	.	0.685435	0.10542	7.250	0.90342315894487868	0.19607	0.00900	0.03527	N	AEFI	0.042798	0.06686	N	-0.808591940972911	0.13090	0.6424752	-0.9173952337723	0.11684	0.596749	1.28984583444717E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.99	1.6	0.22686	1.304000	0.33087	-3.234000	0.02948	0.528000	0.24546	0.012000	0.18695	0.000000	0.08366	0.025000	0.12405	0.8629:0.0:0.1371:0.0	7.308	0.25631	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4563.81	54	chr11	1243709	.	A	T	4563.81	.	AC=2;AF=0.053;AN=38;DP=1299;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.38;QD=34.84;SOR=1.371	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	18	1	0	0
chr11	1247307	1247307	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10427T:p.S3476L	.	436	1084	2	0	0	2	0.000921659	.	.	.	3377654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.000670523935588	0.0009	0.000998403	0.0021	0.0013	0.0010	0	0.0002	0.0034	0.0011	6.058e-05	0.0006531	17	26028	rs200237369	0.0011	0.0046	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0007	0.0004	0.0003	5.038e-05	0.0002	0.0005	0.0013	0.0007	6.964e-05	0.0014	0.0027	0.0015	0.0013	0.0020	0.0013	0.0012	0.0017	0.0016	0.0015	0.0033	0.0007	0	0	0.0003	0	0.0020	0.0005	0.0002	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.5	0.15782	N	0.054	0.02559	-1.0133	0.25880	T	0.034	0.14639	T	9	0.008140892	0.00185	T	6.71E-4	0.00383	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3778921272455703	0.37704	.	.	0.291973948479	0.09209	T	0.019382	0.15452	T	-0.608035	0.00130	T	-0.691729	0.06289	T	0.0188476063997962	0.00595	T	0.453055	0.12870	T	0.04009491	0.05660	0.055800963	0.09854	0.04009491	0.05660	0.055800963	0.09853	-9.23	0.69165	D	.	.	0.126	0.26794	B	.	.	0.558156	0.09265	6.049	0.60519443585822308	0.06483	0.00826	0.03330	N	AEFI	0.040760	0.06108	N	-1.51925413910876	0.01723	0.07542334	-1.69741881414829	0.01149	0.051674	7.3503208821387E-4	0.07723	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.16	-2.33	0.06340	-0.639000	0.05543	-6.979000	0.01259	-1.530000	0.00994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3952:0.3367:0.268	3.873	0.08548	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001656	0.000000	0.001362	0.004167	0.000000	0.008772	0.000000	0.000000	0.05263	3810.83	90	chr11	1247307	.	C	T	3810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.19;DP=2232;ExcessHet=0.119;FS=2.224;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=7.09;QD=10.36;ReadPosRankSum=1.45;SOR=0.76	GT:AD:DP:GQ:PL	0/1:74,93:167:99:2331,0,1771	17	0	2	0
chr11	1247925	1247925	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11045T:p.T3682M	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00191972982658	.	0.000798722	0.0004	0.0002	0.0003	0	0	0.0006	0.0011	0.0002	3.23e-05	5	154602	rs200085279	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.977e-05	0.0001	0	7.557e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.27e-05	0.0001	0.0001	0.0001	0	6.548e-05	0	0	0.0002	0	0.0002	0	0	0.004	0.65419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.12	0.19726	T	-1.27	0.31981	N	0.046	0.01825	-1.0458	0.15592	T	0.061	0.25346	T	9	0.023566425	0.00620	T	0.00192	0.03404	T	0.172	0.43662	.	.	0.043077524339	0.03247	0.4173206370271223	0.41648	.	.	0.227280288935	0.01773	T	0.020925	0.16390	T	-0.519797	0.00441	T	-0.688237	0.06492	T	0.0274839638641892	0.01613	T	0.121888	0.00944	T	0.018984336	0.00423	0.040654402	0.04443	0.018984336	0.00423	0.040654402	0.04442	-8.318	0.63216	D	.	.	0.092	0.13362	B	.	.	0.501121	0.08704	5.475	0.87642524943625444	0.17375	0.02575	0.07122	N	AEFI	0.075209	0.15097	N	-0.795223544554479	0.13434	0.6617575	-1.09277455287446	0.07841	0.3830716	2.51284719017043E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.62	-2.84	0.05408	-0.334000	0.07927	-7.888000	0.01067	-1.461000	0.01082	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2364:0.354:0.234:0.1755	0.670	0.00803	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2935.33	90	chr11	1247925	.	C	T	2935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=1328;ExcessHet=0;FS=0.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.76;MQRankSum=-12.83;QD=12.28;ReadPosRankSum=2.32;SOR=0.763	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr11	1248345	1248345	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11465A:p.A3822D	.	.	.	.	.	.	.	.	.	.	.	3723723	Interstitial_lung_disease_2|not_specified	MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.000826134112604	.	.	8.349e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs765026475	4.79e-06	4.788e-06	5.446e-06	4.126e-06	0.0003	1.99e-06	1.28e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	3.598e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	1.96	0.22270	T	-0.94	0.25118	N	0.057	0.02861	-0.9962	0.30974	T	0.042	0.17952	T	9	0.060271084	0.07376	T	8.26E-4	0.00670	T	0.055	0.15663	.	.	0.043077524339	0.03247	0.2869963316442976	0.28612	.	.	0.179490432143	0.00089	T	0.021899	0.16976	T	-0.354276	0.04464	T	-0.746669	0.03617	T	0.0342160321680004	0.02674	T	0.765423	0.39305	T	0.09160264	0.21467	0.07259637	0.15679	0.09160264	0.21467	0.07259637	0.15679	-9.398	0.70223	D	.	.	0.166	0.36535	B	.	.	0.260912	0.06395	2.860	0.66674496337756461	0.08128	0.01548	0.05077	N	AEFI	0.049089	0.08445	N	-1.56618972656254	0.01442	0.06291418	-1.75510069321924	0.00914	0.04089702	0.590526178870481	0.21643	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.93	-5.86	0.02114	-0.792000	0.04700	-5.798000	0.01593	0.308000	0.19071	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1999:0.2746:0.2849:0.2406	0.917	0.01224	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.000000	0.004098	0.000000	0.008621	0.000000	0.000000	0.02632	2570.33	49	chr11	1248345	.	C	A	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.865;DP=1350;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.48;MQRankSum=-0.772;QD=12.48;ReadPosRankSum=0.501;SOR=0.551	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr11	1248603	1248603	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11723T:p.S3908F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00406889895047	.	.	1.689e-05	0	0	0	0	1.535e-05	0	6.08e-05	6.5e-06	1	154602	rs758540158	1.848e-05	1.847e-05	1.362e-05	2.339e-05	0.0001	1.266e-05	1.085e-05	8.001e-05	6.239e-05	0	0	0	0	0	0	1.17e-05	3.314e-05	0.0001	6.581e-06	6.567e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.255	0.64187	M	1.73	0.26445	T	-1.89	0.44094	N	0.118	0.10769	-1.0585	0.12134	T	0.051	0.21767	T	9	0.13848019	0.26337	T	0.004069	0.09712	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.23535419499999627	0.23450	.	.	0.211132317781	0.00860	T	0.028942	0.20850	T	-0.287313	0.09907	T	-0.650482	0.08921	T	0.0564385250026891	0.06597	T	0.69743	0.30707	T	0.07678517	0.17387	0.09830138	0.23430	0.07678517	0.17386	0.09830138	0.23429	-9.088	0.68261	D	.	.	0.168	0.36986	B	.	.	1.631532	0.20829	14.93	0.84360120520782034	0.15246	0.04475	0.10087	N	AEFI	0.046617	0.07761	N	-0.688957966852693	0.16334	0.8313357	-0.927821765217485	0.11439	0.5827535	1.56496209388142E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.11	-2.21	0.06581	-1.222000	0.03074	1.178000	0.24674	0.326000	0.19454	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.4356:0.333:0.1422:0.0893	3.123	0.06012	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	49	chr11	1248603	.	C	T	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=1994;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.27;MQRankSum=-0.792;QD=10.81;ReadPosRankSum=-0.726;SOR=0.632	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr11	1248818	1248818	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11938A:p.A3980T	.	.	.	.	.	.	.	.	.	.	.	2777963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00110425500288	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	3.84e-05	1	26028	rs778338583	0.0001	0.0001	9.744e-05	0.0001	0.0003	9.535e-05	9.043e-05	0.0002	0.0002	0	0.0003	0.0006	5.598e-05	2.042e-05	0.0002	9.832e-05	0.0003	1.26e-05	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.527e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0005	0	0.915	0.02338	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.085	0.27262	L	2.04	0.20808	T	-0.13	0.08971	N	0.148	0.15046	-1.0118	0.26353	T	0.030	0.13067	T	9	0.032455593	0.01397	T	0.001104	0.01312	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.26313167976076296	0.26226	.	.	0.219269186258	0.01268	T	0.014869	0.12575	T	-0.547455	0.00302	T	-0.722437	0.04678	T	0.00801134276213882	0.00095	T	0.370463	0.08742	T	0.022459261	0.00911	0.048602387	0.07254	0.022459261	0.00911	0.048602387	0.07254	-6.258	0.48389	T	.	.	0.070	0.03407	B	.	.	0.624265	0.09926	6.685	0.72067592741283737	0.09844	0.00236	0.01316	N	AEFI	0.030379	0.03048	N	-1.41769574718472	0.02483	0.1097217	-1.55270359353336	0.01957	0.08936465	9.97345952297202E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.35	-4.01	0.03775	0.082000	0.14697	-2.506000	0.03671	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.514:0.3007:0.1853:0.0	5.080	0.13989	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	49	chr11	1248818	.	G	A	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.372;DP=920;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.29;MQRankSum=-1.518;QD=12.94;ReadPosRankSum=1.13;SOR=0.908	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr11	1248903	1248903	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12023T:p.T4008M	.	632	886	3	1	0	5	0.00281373	.	.	.	2438393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00321089615043	.	.	0.0007	0.0027	0.0027	0	0	0.0007	0	0.0002	6.5e-06	1	154602	rs767648185	0.0005	0.0005	0.0005	0.0005	0.0015	0.0005	0.0005	0.0007	0.0007	6.27e-05	0.0010	0	0	5.982e-05	0.0015	0.0006	0.0004	0.0002	0.0004	0.0005	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0.0088	0.0014	0	0	0	0	0.0004	0.0015	0	0.054	0.38633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.08	0.20255	T	-0.93	0.24898	N	0.042	0.01498	-1.0524	0.13736	T	0.031	0.13461	T	9	0.010128796	0.00227	T	0.003211	0.07057	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.38704277308092166	0.38619	.	.	0.217673510313	0.01180	T	0.032386	0.22461	T	-0.663544	0.00060	T	-0.732388	0.04221	T	0.000755852060251669	0.00007	T	0.323368	0.06588	T	0.0146855945	0.00103	0.03652635	0.03116	0.0146855945	0.00103	0.03652635	0.03116	-8.746	0.66047	D	.	.	0.126	0.26576	B	.	.	0.898715	0.12724	9.246	0.74712460906929012	0.10798	0.00223	0.01258	N	AEFI	0.032051	0.03545	N	-1.37164144024145	0.02907	0.1290686	-1.51768257756784	0.02208	0.1012032	9.35793791966632E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-1.12	0.09306	0.464000	0.21700	-6.072000	0.01505	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4421:0.3355:0.2224	5.067	0.13923	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002714	0.000000	0.006231	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	548.33	49	chr11	1248903	.	C	T	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.4;MQRankSum=-1.29;QD=15.23;ReadPosRankSum=0.867;SOR=0.938	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	1249397	1249397	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G12517A:p.E4173K	.	.	.	.	.	.	.	.	.	.	.	2205809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0102413799213	8.5e-05	.	0.0002	0	0.0002	0	0	0.0001	0.0013	0.0009	3.84e-05	1	26028	rs375463570	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	0.0002	0	5.038e-05	0	0.0005	0.0002	0.0003	0.0010	9.861e-05	9.85e-05	7.71e-05	0.0001	0.0004	6.01e-05	4.882e-05	0.0001	8.288e-05	2.416e-05	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.016	0.51853	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999946	0.19238	N	3.13	0.88074	M	2.16	0.19166	T	-1.41	0.34795	N	0.238	0.26837	-0.9195	0.45621	T	0.118	0.41385	T	9	0.05632195	0.06294	T	0.010241	0.26544	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.7700107108351849	0.76950	.	.	0.47407078743	0.35241	T	0.019402	0.15464	T	-0.534983	0.00359	T	-0.610065	0.11980	T	0.0698121191205456	0.08625	T	0.573543	0.20534	T	0.06671327	0.14380	0.11428417	0.27586	0.06671327	0.14380	0.11428417	0.27585	-8.32	0.63230	D	.	.	0.618	0.69636	P	.	.	0.699661	0.10684	7.380	0.79472205928648731	0.12757	0.02934	0.07752	N	AEFI	0.092441	0.18715	N	-0.670968472493337	0.16852	0.8622288	-0.97684377769293	0.10306	0.5182466	1.67454863263226E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.69	-2.6	0.05830	-4.279000	0.00297	-11.966000	0.00561	-0.709000	0.03961	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0853:0.549:0.3657:0.0	11.807	0.51433	952	0.10565	WxxW domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001147	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	1024.33	49	chr11	1249397	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=1198;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.02;MQRankSum=-2.195;QD=10.56;ReadPosRankSum=-0.736;SOR=0.666	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.02632	2770.33	49	chr11	1250829	.	G	C	2770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=2525;ExcessHet=0;FS=14.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.57;MQRankSum=-5.188;QD=13.58;ReadPosRankSum=0.735;SOR=1.48	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	1252900	1252900	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon33:c.A15137G:p.N5046S	.	420	1098	4	0	0	4	0.00181818	.	.	.	3318603	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.0199035837206	0.0002	.	0.0003	0	0.0005	0	0	0.0004	0.0012	0	0.0002329	36	154602	rs369321121	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0004	0.0003	0	0.0005	0.0002	0	0	0.0009	0.0002	0.0004	2.319e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0032	0.0003	0	0	0.544	0.06713	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.515	0.13537	N	2.37	0.15964	T	-1.76	0.41618	N	0.114	0.10198	-0.9838	0.34116	T	0.018	0.07423	T	9	0.036046118	0.01882	T	0.019904	0.42377	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.7509940139241132	0.75046	.	.	0.225491195917	0.01651	T	0.020202	0.15948	T	-0.653209	0.00069	T	-0.835517	0.01168	T	0.0177352958022806	0.00503	T	0.554445	0.19192	T	0.022191305	0.00866	0.03278602	0.02069	0.022191305	0.00866	0.03278602	0.02068	-5.912	0.45537	T	.	.	0.081	0.08368	B	.	.	-0.062111	0.03872	0.842	0.64452289976835919	0.07497	0.05058	0.10848	N	AEFBHCI	0.073781	0.14769	N	-1.09825734909336	0.06675	0.3079681	-1.11985978400734	0.07320	0.3556628	3.91500876907365E-4	0.06820	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.86	-0.701	0.10702	-0.501000	0.06479	0.139000	0.15146	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.4483:0.1713:0.2547:0.1257	1.308	0.01966	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	36	chr11	1252900	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.197;DP=741;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.227;SOR=0.958	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1271	18	0	1	0
chr11	1295794	1295794	C	T	exonic	TOLLIP	.	nonsynonymous SNV	TOLLIP:NM_001318515:exon2:c.G34A:p.V12M,TOLLIP:NM_001318516:exon2:c.G34A:p.V12M,TOLLIP:NM_019009:exon2:c.G34A:p.V12M	.	.	.	.	.	.	.	.	0.9997	0.876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.126e-07	2.736e-06	1.406e-06	0	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.006	0.92824	D	1.0	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	0.33	0.58323	T	-2.01	0.56945	N	0.913	0.91505	-0.1910	0.77903	T	0.416	0.76279	T	10	0.7790391	0.77699	D	0.049025	0.63632	D	0.273	0.58883	0.42	0.46200	0.629531678278	0.62650	0.5130900843511665	0.51231	1.31905736023	0.83405	0.914379060268	0.97866	D	0.394351	0.75352	T	0.163373	0.70513	D	-0.0031031	0.70135	D	0.928876996040344	0.59259	D	0.943306	0.78595	D	0.2957856	0.52524	0.25867346	0.51603	0.2957856	0.52524	0.25867346	0.51602	-5.042	0.37293	T	.	.	0.872	0.81011	P	.;.;.	.;.;.	5.281786	0.88686	29.7	0.99861211159532992	0.94002	0.98139	0.79933	D	AEFBI	0.939458	0.94008	D	0.749623017220088	0.82880	7.87345	0.696196806919278	0.82090	7.681627	0.999999999999617	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	7.544000	0.81063	7.435000	0.58824	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:1.0:0.0:0.0	19.599	0.95546	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	797.33	36	chr11	1295794	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.929;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.732;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	18	0	1	0
chr11	1598148	1598148	G	A	exonic	KRTAP5-2	.	nonsynonymous SNV	KRTAP5-2:NM_001004325:exon1:c.C103T:p.R35C	.	480	1020	22	0	0	22	0.0106693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00319489	0.0006	0.0068	0.0004	0	0	3.095e-05	0	0	0.0006145	95	154602	rs138454470	0.0003	0.0014	0.0004	0.0002	0.0107	0.0003	0.0003	0.0097	0.0093	0.0107	0.0008	0	0	2.651e-05	0	3.985e-05	0.0007	1.444e-05	0.0057	0.0068	0.0057	0.0058	0.0226	0.0052	0.0049	0.0202	0.0193	0.0226	0	0.0038	0.0008	0	0.0009	0	0.0005	0.0046	0.0006	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	0.757796	0.29571	N	-2.375	0.00080	N	5.95	0.00612	T	4.05	0.00053	N	0.198	0.21839	-0.9652	0.38171	T	0.001	0.00408	T	7	0.0053781867	0.00118	T	.	.	.	0.048	0.13305	.	.	0.126345400529	0.12197	0.04239761366701358	0.04184	0.120354671306	0.13553	.	.	.	0.00172	0.01148	T	-0.644603	0.00078	T	-0.693296	0.06201	T	0.0558774954291982	0.06503	T	.	.	.	0.15682541	0.35370	0.06273153	0.12319	0.15682541	0.35369	0.06273153	0.12319	3.781	0.00010	T	.	.	0.074	0.05060	B	.	.	0.974474	0.13517	10.04	0.9767579808303416	0.35282	0.00173	0.01021	N	AEFDBI	0.026611	0.02029	N	-0.798609955567976	0.13346	0.6568261	-0.841582099056225	0.13489	0.7000655	0.108538388470961	0.16585	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.5	1.5	0.22029	-0.184000	0.09693	.	.	-0.340000	0.05703	0.000000	0.06391	.	.	0.015000	0.10482	0.8126:0.0:0.1874:0.0	4.946	0.13341	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006729	0.010204	0.001359	0.006897	0.000000	0.000000	0.012195	0.003788	0.02632	62.37	127	chr11	1598148	.	G	A	62.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.559;DP=1371;ExcessHet=0;FS=1.175;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=-5.151;QD=0.53;ReadPosRankSum=-0.613;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,12:117:76:0|1:1598148_G_A:76,0,2704:1598148	18	0	1	0
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	181.3	114	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	181.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.564;DP=1303;ExcessHet=0;FS=5.78;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=59.38;MQRankSum=-6.966;QD=1.59;ReadPosRankSum=0.145;SOR=1.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:119,0:129:99:0|1:1598148_G_A:0,352,5068:1598148	18	0	1	0
chr11	1607869	1607869	G	A	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C517T:p.P173S	.	435	1077	10	0	0	10	0.00462107	.	.	.	2700338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00259297718739	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002523	39	154602	rs201674720	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.997e-05	0	0	0	1.897e-05	0.0016	8.961e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.809e-05	0.0006	0.0004	2.453e-05	0	6.636e-05	0	0	0	0	0.0003	0	0.0013	0.014	0.53172	D	0.131	0.34596	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.53	0.73802	M	5.19	0.01172	T	-6.08	0.89910	D	0.141	0.14054	-0.9437	0.42025	T	0.005	0.01578	T	9	0.0326021	0.01415	T	0.002593	0.05235	T	0.040	0.10527	.	.	0.0806252709748	0.07271	0.03709911176001449	0.03656	0.0209301570774	0.02068	.	.	.	0.098628	0.40264	T	-0.429505	0.01492	T	-0.663048	0.08062	T	0.135738506913185	0.15903	T	.	.	.	0.16437835	0.36641	0.22739103	0.47748	0.16437835	0.36641	0.22739103	0.47747	-7.875	0.60215	D	.	.	0.282	0.51480	B	.	.	1.834603	0.23309	15.97	0.83063333957712349	0.14522	0.00437	0.02136	N	AEFDGBI	0.012930	0.00156	N	-1.14509194023092	0.05861	0.2683051	-1.20876163259635	0.05768	0.275784	0.00833562901249085	0.11656	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	-0.162	0.12712	0.033000	0.13642	0.707000	0.20898	0.300000	0.18932	0.000000	0.06391	0.874000	0.27626	0.011000	0.09372	0.2267:0.3422:0.4311:0.0	4.67	0.12068	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002125	0.005102	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.02632	2987.33	53	chr11	1607869	.	G	A	2987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.369;DP=2498;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.09;QD=13.7;ReadPosRankSum=0.131;SOR=0.676	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	1608169	1608169	A	G	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.T217C:p.C73R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00398991130227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.001	0.83351	D	0.064	0.23455	B	0.038	0.23361	B	.	.	.	.	0.99809	0.44502	D	3.145	0.88303	M	5.17	0.01185	T	-3.93	0.73267	D	0.192	0.21056	-1.0524	0.13736	T	0.008	0.02884	T	9	0.10965103	0.20463	T	0.00399	0.09462	T	0.068	0.19811	0.283	0.23961	0.0611884634855	0.05136	0.030609208806422303	0.03009	0.0256098080643	0.02620	.	.	.	0.117809	0.43816	T	-0.253625	0.13658	T	-0.602091	0.12636	T	0.194155272071474	0.20086	T	.	.	.	0.26731068	0.49803	0.3029296	0.56324	0.26731068	0.49803	0.3029296	0.56323	-5.777	0.44373	T	.	.	0.216	0.44540	B	.	.	1.976573	0.25106	16.64	0.58904718013482538	0.06100	0.05913	0.11866	N	AEFDBI	0.052107	0.09267	N	-0.53861688898373	0.20842	1.101762	-0.631305157762432	0.18691	0.9995884	0.0128094378282517	0.12377	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.562822	0.20929	0	.	.	3.57	2.29	0.27658	1.546000	0.35787	1.098000	0.24042	0.503000	0.22915	0.048000	0.21332	0.000000	0.08366	0.003000	0.05239	0.7968:0.0:0.0:0.2032	7.03	0.24142	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1880.71	53	chr11	1608169	.	A	G	1880.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.72;DP=1430;ExcessHet=0;FS=0.655;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.62;SOR=0.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	1	1
chr11	1608248	1608248	G	C	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C138G:p.C46W	.	427	1080	15	0	0	15	0.00689655	.	.	.	2344382	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0071208537716	.	0.000199681	6.691e-05	0	8.639e-05	0	0.0006	3.041e-05	0	6.056e-05	5.82e-05	9	154602	rs531596632	6.573e-05	6.704e-05	6.403e-05	6.744e-05	0.0015	5.499e-05	5.111e-05	0.0007	0.0005	0	2.236e-05	0	0	0.0003	0.0015	3.687e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0005	0.0004	2.447e-05	0	0.0009	0	0	0.0007	0	7.392e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.988788	0.40828	D	4.19	0.97772	H	4.37	0.02277	T	-4.12	0.75058	D	0.418	0.45803	-1.0772	0.07901	T	0.041	0.17827	T	9	0.12293714	0.23329	T	0.007121	0.18869	T	0.172	0.43662	0.474	0.55020	0.359763055319	0.35592	0.13920728362131274	0.13843	0.0228964277873	0.02319	.	.	.	0.129217	0.45737	T	-0.295165	0.09124	T	-0.402081	0.33143	T	0.894842207431793	0.54630	D	.	.	.	0.7917143	0.83381	0.78520703	0.87348	0.7917143	0.83382	0.78520703	0.87349	-11.853	0.84127	D	.	.	0.539	0.66295	A	.	.	2.695339	0.35192	19.83	0.98621085067295522	0.43771	0.81673	0.41030	D	AEFBI	0.325683	0.42719	N	0.524279190115123	0.68531	5.229853	0.345131660373371	0.58216	3.990751	0.00283388642364325	0.09739	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.81	2.81	0.31971	1.288000	0.32901	.	.	0.467000	0.21759	0.148000	0.23625	.	.	0.991000	0.66497	0.0:0.0:1.0:0.0	11.417	0.49200	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1168.33	53	chr11	1608248	.	G	C	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=1393;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-1.757;QD=9.35;ReadPosRankSum=-0.868;SOR=0.849	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	1621998	1621998	G	0	exonic	KRTAP5-4	.	.	.	.	590	340	341	209	42	801	0.52745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	32794.5	129	chr11	1621998	.	G	*	32794.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=2168;ExcessHet=10.2499;FS=3.331;InbreedingCoeff=-0.4319;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=-0.106;QD=16.93;ReadPosRankSum=0.135;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:111:99:.:.:3497,3502,3541:.	18	0	1	0
chr11	1629952	1629952	T	C	exonic	KRTAP5-5	.	nonsynonymous SNV	KRTAP5-5:NM_001001480:exon1:c.T112C:p.C38R	.	494	1009	12	0	7	19	0.00591133	.	.	.	2340960	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0174186786563	.	.	0.0010	0.0021	0.0017	0.0001	0.0005	0.0011	0.0012	0.0002	0.0008344	129	154602	rs767745193	0.0044	0.0047	0.0044	0.0043	0.0103	0.0043	0.0042	0.0078	0.0070	0.0048	0.0030	0.0109	0.0005	0.0032	0.0103	0.0046	0.0054	0.0006	0.0050	0.0055	0.0051	0.0049	0.0052	0.0047	0.0046	0.0047	0.0046	0.0052	0	0.0045	0.0158	0.0014	0.0041	0.0074	0.0052	0.0056	0.0010	0.0	0.91255	D	0.001	0.83351	D	0.068	0.23728	B	0.035	0.22741	B	.	.	.	.	0.997928	0.44325	D	2.505	0.72935	M	5.01	0.01308	T	-3.3	0.65858	D	0.335	0.37613	-1.0285	0.20940	T	0.009	0.03183	T	9	0.0067453682	0.00153	T	0.017419	0.39111	T	0.088	0.25558	.	.	0.19670166235	0.19296	0.5047133293395497	0.50393	0.334685067799	0.35479	.	.	.	0.079866	0.36229	T	-0.5274	0.00398	T	-0.529121	0.19374	T	0.08241149117952	0.10294	T	.	.	.	0.6553897	0.75652	0.6008041	0.76808	0.6553897	0.75653	0.6008041	0.76809	-9.192	0.68924	D	.	.	0.194	0.41418	B	.	.	1.886593	0.23966	16.22	0.58535751823354942	0.06016	0.37812	0.25846	N	AEFBI	0.136667	0.25740	N	-0.337679790406946	0.27727	1.523626	-0.367078960223159	0.25985	1.432474	6.51047893142699E-4	0.07527	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.47	2.47	0.29113	2.038000	0.40805	0.687000	0.20730	0.515000	0.23462	0.985000	0.35982	0.988000	0.31051	0.011000	0.09372	0.0:0.0:0.0:1.0	8.790	0.34003	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.010309	0.008152	0.029167	0.000000	0.017241	0.003125	0.000000	0.02632	766.33	75	chr11	1629952	.	T	C	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.103;DP=1771;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-2.321;QD=11.27;ReadPosRankSum=1.36;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800:.	18	0	1	0
chr11	1630139	1630139	T	G	exonic	KRTAP5-5	.	nonsynonymous SNV	KRTAP5-5:NM_001001480:exon1:c.T299G:p.V100G	.	.	.	.	.	.	.	.	.	.	.	3455936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.122	0.00185128734044	.	.	8.394e-06	0	8.643e-05	0	0	0	0	0	.	.	.	rs748765927	6.855e-07	6.841e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	7.05e-06	1.342e-05	1.372e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	0.043	0.41364	D	0.336	0.18232	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.529808	0.31966	D	-2.29	0.00100	N	5.44	0.00979	T	-0.71	0.20145	N	0.076	0.05037	-0.9813	0.34701	T	0.001	0.00348	T	9	0.032355547	0.01385	T	0.001851	0.03219	T	0.122	0.33800	0.142	0.04556	0.159798565429	0.15598	0.12954982240460824	0.12879	0.24825362791	0.27384	.	.	.	0.005144	0.04581	T	-0.288388	0.09799	T	-0.652026	0.08813	T	0.0375047667930639	0.03244	T	.	.	.	0.07153162	0.15843	0.10099646	0.24165	0.07153162	0.15842	0.10099646	0.24164	1.261	0.00103	T	.	.	0.058	0.00693	B	.	.	0.643164	0.10115	6.862	0.36397707721310113	0.02339	0.00402	0.02007	N	AEFBI	0.018273	0.00542	N	-1.4146576451358	0.02510	0.1109193	-1.24819120482221	0.05158	0.2451001	0.00501168106901939	0.10797	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.48	2.54	0.29674	1.092000	0.30538	-0.001000	0.13204	-0.236000	0.07595	0.272000	0.25065	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.7909:0.2091	9.789	0.39862	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	307.33	72	chr11	1630139	.	T	G	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1581;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.764;SOR=1.148	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:168:99:.:.:6989,6989,6989:.	8	2	9	0
chr11	1747981	1747981	C	T	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.G223A:p.A75T	.	399	1109	14	0	0	14	0.0062724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.192222550742	.	0.00179712	0.0038	0	0	0	0	0.0055	0	0.0074	0.0004786	74	154602	rs555924410	0.0015	0.0014	0.0014	0.0015	0.0114	0.0014	0.0014	0.0091	0.0083	0.0001	0.0016	0.0157	0	2.665e-05	0.0114	0.0012	0.0020	0.0025	0.0016	0.0016	0.0017	0.0016	0.0025	0.0015	0.0014	0.0019	0.0016	0.0002	0	0.0025	0.0170	0	0.0002	0.0034	0.0018	0.0038	0.0023	0.074	0.34621	T	0.0	0.92824	D	.	.	.	.	.	.	0.424802	0.04670	U	2.125080	0.959558	0.26181	N	0.345	0.11182	N	0.63	0.53088	T	-0.84	0.22944	N	0.187	0.20395	-0.9415	0.42378	T	0.098	0.36625	T	8	0.006131977	0.00138	T	0.192223	0.86231	D	0.196	0.47777	0.188	0.09776	0.198526703765	0.19489	0.2268490250920091	0.22599	.	.	0.868384480476	0.92337	D	0.018235	0.14734	T	-0.400167	0.02309	T	-0.353447	0.38809	T	0.0692741705061364	0.08549	T	0.732927	0.34859	T	0.11248071	0.26573	0.1250269	0.30128	0.11248071	0.26573	0.1250269	0.30128	-4.162	0.26199	T	.	.	0.110	0.51463	B	.;.;.	.;.;.	3.168099	0.42956	21.6	0.99425563736679046	0.63984	0.55000	0.29755	D	AEFDBHCI	0.153518	0.27839	N	-0.0788444211261278	0.38320	2.242646	-0.0503709773117877	0.37474	2.194638	0.999998474833814	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	1.737000	0.37821	2.954000	0.35726	0.463000	0.21641	0.844000	0.30348	0.996000	0.32793	0.991000	0.66497	0.0:0.8792:0.0:0.1208	7.865	0.28698	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011236	0.010638	0.015038	0.024038	0.000000	0.000000	0.009174	0.000000	0.02632	905.33	33	chr11	1747981	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=726;ExcessHet=0;FS=3.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.098;SOR=1.108	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1460	18	0	1	0
chr11	1750442	1750443	TC	-	exonic	IFITM10	.	stoploss	IFITM10:NM_001170820:exon1:c.1_687del:p.E1_R50delinsKVRDKKLLNDLNGAVEDAKTARLFNITSSALAASCIILVFIFLRYPLTDY*	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0033	0.0011	0	0	0	0.0066	0	0.0025	0.0003458	9	26028	rs576976576	0.0015	0.0014	0.0014	0.0016	0.0116	0.0015	0.0014	0.0093	0.0085	0.0002	0.0012	0.0155	0	4.153e-05	0.0116	0.0012	0.0023	0.0025	0.0016	0.0016	0.0017	0.0016	0.0024	0.0015	0.0014	0.0018	0.0016	0.0001	0	0.0024	0.0170	0	0.0002	0.0034	0.0018	0.0039	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009375	0.010638	0.023585	0.024272	0.000000	0.000000	0.000000	0.000000	0.02632	1288.29	43	chr11	1750441	.	ATC	A	1288.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=798;ExcessHet=0;FS=2.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.887;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.02632	1284.33	35	chr11	1754122	.	C	T	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=2.24;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	18	0	1	0
chr11	1836238	1836238	A	G	exonic	SYT8	.	nonsynonymous SNV	SYT8:NM_001290332:exon5:c.A515G:p.H172R,SYT8:NM_001290333:exon5:c.A512G:p.H171R,SYT8:NM_001290334:exon5:c.A509G:p.H170R,SYT8:NM_138567:exon5:c.A512G:p.H171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0153541289396	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387004912	9.729e-06	1.163e-05	5.523e-06	1.399e-05	0.0004	5.65e-06	4.42e-06	6.179e-05	2.554e-05	0	0	0	0	0	0.0004	1.089e-05	0	0	6.579e-06	6.57e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.008	0.67890	D	0.955	0.54515	P	0.745	0.55870	P	.	.	.	.	0.918236	0.28790	N	2.245	0.63543	M	3.19	0.07353	T	-6.28	0.90688	D	0.224	0.25130	-1.0927	0.05097	T	0.035	0.14987	T	9	0.38676143	0.54598	T	0.015354	0.36031	T	0.088	0.25558	0.685	0.82271	0.21737058555	0.21362	0.4322213094474557	0.43139	0.415749079951	0.42219	0.579834103584	0.50063	T	0.112658	0.42910	T	-0.164273	0.26105	T	-0.473743	0.25114	T	0.886074662208557	0.53646	D	0.59994	0.22366	T	0.26766744	0.49839	0.37723622	0.62828	0.26766744	0.49839	0.37723622	0.62828	-7.049	0.54390	T	.	.	0.143	0.33249	B	.;.	.;.	2.004513	0.25467	16.77	0.99216091429115483	0.55747	0.07770	0.13769	N	AEFDBI	0.121499	0.23618	N	-0.0599446130666916	0.39158	2.304832	-0.194857464730218	0.31725	1.798129	0.999846905718425	0.43971	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	2.76	2.76	0.31527	0.227000	0.17575	0.454000	0.18551	-0.122000	0.13826	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.8784:0.0:0.1216:0.0	6.693	0.22372	988	0.01987	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2002.33	35	chr11	1836238	.	A	G	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=873;ExcessHet=0;FS=5.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.538;SOR=0.971	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr11	1853181	1853181	C	T	exonic	LSP1	.	nonsynonymous SNV	LSP1:NM_002339:exon1:c.C37T:p.R13W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00511817700841	.	.	9.057e-05	0	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs148966414	3.839e-05	3.899e-05	3.819e-05	3.859e-05	3.059e-05	3.032e-05	2.725e-05	2.202e-05	1.943e-05	0	0	0.0008	0	1.905e-05	0	3.059e-05	0	1.167e-05	3.941e-05	3.938e-05	5.142e-05	2.686e-05	0.0002	1.715e-05	1.129e-05	.	.	2.408e-05	0	6.537e-05	0.0006	0.0002	0	0	1.47e-05	0	0	0.029	0.45756	D	0.182	0.29249	T	0.997	0.70673	D	0.551	0.49270	P	.	.	.	.	0.998937	0.21783	N	1.39	0.34934	L	1.96	0.22270	T	-1.09	0.28290	N	0.203	0.22486	-1.0890	0.05701	T	0.037	0.15856	T	9	0.051110446	0.04943	T	0.005118	0.13001	T	0.160	0.41473	.	.	0.395441342475	0.39163	.	.	.	.	.	.	.	0.173826	0.52283	T	-0.36705	0.03746	T	-0.58225	0.14344	T	0.112990879643851	0.13731	T	0.707329	0.31793	T	0.061013512	0.12586	0.07200956	0.15486	0.061013512	0.12585	0.07200956	0.15485	-5.664	0.43372	T	.	.	0.158	0.34949	B	.	.	3.480706	0.48608	22.6	0.90974812424264817	0.20224	0.68801	0.33940	D	ALL	0.310919	0.41680	N	-0.37639897532882	0.26312	1.43508	-0.46766640490736	0.23050	1.255042	0.999999996622929	0.74766	0.517182	0.21443	0	0.52208	0.09955	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	2.5	1.58	0.22557	0.431000	0.21163	2.324000	0.32153	-0.178000	0.10482	0.053000	0.21524	0.981000	0.30433	0.023000	0.12082	0.2823:0.7177:0.0:0.0	6.670	0.22251	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	972.33	38	chr11	1853181	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=777;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.12;SOR=0.88	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr11	1866667	1866667	G	T	exonic	LSP1	.	stopgain	LSP1:NM_001242932:exon2:c.G193T:p.E65X	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916885599	5.006e-06	4.788e-06	7.056e-06	2.9e-06	3.165e-05	2.08e-06	1.34e-06	8.7e-07	5.9e-07	3.165e-05	0	0	0	0	0	3.707e-06	3.448e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.383	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183141	0.72332	D	0.0252936	0.71973	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.052709	0.04656	1.311	0.98126650319118225	0.38481	0.07558	0.13570	N	AEFDBCI	0.033253	0.03908	N	0.0129743799161102	0.42445	2.557506	-0.425961931557102	0.24239	1.326208	0.999943181048669	0.47345	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.55	-0.554	0.11220	-0.540000	0.06195	-0.128000	0.11649	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.292:0.2331:0.4749:0.0	3.058	0.05817	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	45	chr11	1866667	.	G	T	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.186;DP=964;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.225;SOR=0.593	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	13	2	4	0
chr11	2402712	2402712	G	A	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.G79A:p.D27N,TSSC4:NM_005706:exon3:c.G79A:p.D27N,TSSC4:NM_001297658:exon4:c.G79A:p.D27N,TSSC4:NM_001297660:exon4:c.G79A:p.D27N	.	418	1100	4	0	0	4	0.00181488	.	.	.	2200326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.299960002199	0.0002	.	0.0002	0.0002	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs200824597	3.858e-05	4.036e-05	2.084e-05	5.668e-05	0.0002	3.035e-05	2.723e-05	0.0001	0.0001	0	0	0	0	0	0	3.292e-05	1.694e-05	0.0002	2.627e-05	2.625e-05	3.855e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001424	0.39044	U	0.154525	0.996848	0.81001	D	2.215	0.62545	M	1.29	0.62762	T	-2.13	0.79399	N	0.43	0.46928	-0.3154	0.74551	T	0.379	0.73632	T	9	0.2556281	0.42957	T	0.29996	0.90849	D	0.146	0.38789	.	.	0.467752868181	0.46400	0.3262041468275406	0.32533	0.128873600519	0.14530	0.655956447124	0.60831	T	0.113648	0.64021	T	-0.322253	0.06715	T	-0.382598	0.35419	T	0.311234066092622	0.25465	T	0.832317	0.50011	T	0.19163921	0.40800	0.25838077	0.51570	0.19163921	0.40800	0.25838077	0.51569	-6.213	0.48028	T	.	.	0.215	0.45954	B	.;.;.;.;.;.	.;.;.;.;.;.	3.904582	0.56897	23.8	0.99881049337590655	0.95733	0.87884	0.47580	D	AEFBCI	0.403091	0.47692	N	0.31573764926233	0.56956	3.861337	0.182091263350811	0.48866	3.096914	0.999999998774045	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.61	3.61	0.40494	2.685000	0.46626	5.929000	0.51288	0.662000	0.56354	0.962000	0.33725	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	12.929	0.57671	988	0.01987	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1620.33	33	chr11	2402712	.	G	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.266;DP=845;ExcessHet=0;FS=2.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.766;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1334	18	0	1	0
chr11	2415181	2415181	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon9:c.C1419A:p.F473L	.	409	1105	8	0	0	8	0.00360685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0933959245341	0.0006	0.000998403	0.0019	0	0.0007	0	0.0025	0.0029	0	0.0013	0.0007115	110	154602	rs201638929	0.0006	0.0006	0.0006	0.0006	0.0014	0.0006	0.0006	0.0009	0.0008	6.077e-05	0.0002	0.0120	0	0.0006	0.0014	0.0003	0.0010	0.0011	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0003	0.0002	7.217e-05	0	0.0002	0.0121	0	0.0007	0	0.0004	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.013	0.17295	B	0.000000	0.84330	D	0.000000	0.995102	0.42546	D	0.69	0.16971	N	0.13	0.60973	T	0.6	0.02518	N	0.55	0.57604	-1.0278	0.21168	T	0.075	0.30117	T	10	0.009403288	0.00212	T	0.093396	0.76066	D	0.260	0.57221	0.394	0.41935	0.0551355673512	0.04727	0.45379199618112687	0.45297	0.357763952978	0.37491	0.926101922989	0.98752	D	0.118111	0.43868	T	-0.323625	0.06605	T	-0.295416	0.45207	T	0.027641850480558	0.01636	T	0.783522	0.42019	T	0.15281197	0.34670	0.1548644	0.36328	0.15281197	0.34669	0.1548644	0.36327	-7.611	0.58387	D	.	.	0.813	0.77883	P	.;.;.;.	.;.;.;.	1.937284	0.24609	16.46	0.97010533188149317	0.31981	0.91660	0.53993	D	AEFDBI	0.600262	0.59296	D	-0.582383874635545	0.19479	1.019851	-0.431075272461032	0.24090	1.317294	0.0166256165440514	0.12853	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.21	3.21	0.35933	1.762000	0.38080	1.709000	0.28183	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1395:0.2412:0.6193:0.0	4.332	0.10507	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001015	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.000000	0.02632	1203.33	35	chr11	2415181	.	G	T	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.098;DP=807;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.32;SOR=0.518	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr11	2415956	2415956	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon8:c.C1078T:p.R360C	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.40596968915	0.0002	0.000399361	0.0004	0.0005	0	0	0	0.0006	0	0.0001	0.0001294	20	154602	rs141384348	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	6.059e-05	5.03e-05	7.854e-05	0	0	0	0.0003	0.0003	9.81e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.694e-05	0.0002	0.0001	0.0001	0	6.533e-05	0	0	0	0	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.925	0.51395	P	0.588	0.50402	P	0.000034	0.55875	D	0.065697	0.996426	0.43196	D	2.52	0.73523	M	-0.5	0.70480	T	-6.28	0.91609	D	0.475	0.52918	-0.2788	0.75574	T	0.383	0.73936	T	10	0.25140476	0.42480	T	0.40597	0.93497	D	0.360	0.68052	.	.	0.484182897458	0.48051	0.8546160769170664	0.85424	0.138095241347	0.15570	0.272666931152	0.06491	T	0.84806	0.96515	D	-0.177496	0.24109	T	-0.197903	0.54845	T	0.781267642974854	0.45129	D	0.926607	0.73215	D	0.6613996	0.75974	0.5756452	0.75415	0.6613996	0.75975	0.5756452	0.75416	-11.632	0.83012	D	.	.	0.162	0.42563	B	.;.;.;.	.;.;.;.	4.573298	0.72174	25.8	0.99439661307324412	0.64720	0.70941	0.34801	D	AEFBCI	0.519371	0.54468	D	0.262647787944669	0.54269	3.592732	0.199805873095162	0.49835	3.182229	0.0161814493112688	0.12801	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.92	2.98	0.33575	1.825000	0.38720	6.382000	0.55543	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0969:0.0:0.7259:0.1772	7.259	0.25366	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002035	0.000000	0.002732	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	1080.33	34	chr11	2415956	.	G	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=713;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.565;SOR=0.638	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S,SLC22A18:NM_001315501:exon10:c.A1292G:p.N431S,SLC22A18:NM_002555:exon10:c.A1037G:p.N346S,SLC22A18:NM_183233:exon10:c.A1037G:p.N346S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	561.33	33	chr11	2922506	.	A	G	561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.358;DP=714;ExcessHet=0;FS=5.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.58;SOR=1.033	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.02632	1874.33	34	chr11	3038130	.	C	A	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.353;DP=771;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.62;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	18	0	1	0
chr11	3218472	3218472	-	T	exonic	MRGPRG	.	frameshift insertion	MRGPRG:NM_001164377:exon1:c.341dupA:p.C116Lfs*175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1037.29	42	chr11	3218472	.	C	CT	1037.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.609;DP=735;ExcessHet=0;FS=5.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.242;SOR=0.28	GT:AD:DP:GQ:PL	0/0:26,0:26:70:0,70,886	18	0	1	0
chr11	3228399	3228399	C	T	exonic	MRGPRE	.	nonsynonymous SNV	MRGPRE:NM_001039165:exon2:c.G401A:p.R134H	.	308	1213	0	1	0	2	0.000823723	.	.	.	3450188	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00871373374402	0.0005	0.000399361	0.0003	0.0038	0	0	0	0.0001	0	0	0.0001682	26	154602	rs199984224	8.216e-05	8.414e-05	9.336e-05	7.084e-05	0.0015	6.999e-05	6.547e-05	0.0012	0.0011	0.0015	4.584e-05	0	0	2.084e-05	0	5.057e-05	0.0001	1.171e-05	0.0006	0.0006	0.0006	0.0005	0.0020	0.0005	0.0004	0.0016	0.0015	0.0020	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.874	0.03277	T	.	.	.	.	.	.	0.066817	0.21785	U	0.324845	0.888653	0.27922	N	0.73	0.18813	N	-0.72	0.72994	T	-4.84	0.81030	D	0.039	0.01274	-0.9985	0.30339	T	0.051	0.21572	T	10	0.008328229	0.00189	T	0.008714	0.23001	T	0.042	0.11227	.	.	0.621089364347	0.61801	0.12453909380478892	0.12379	.	.	0.375213861465	0.21576	T	0.002646	0.02035	T	-0.448945	0.01145	T	-0.447734	0.27947	T	0.124564094584126	0.14870	T	0.577942	0.20808	T	0.057323262	0.11395	0.03141646	0.01727	0.057323262	0.11395	0.03141646	0.01727	-1.33	0.01450	T	.	.	0.083	0.09336	B	.	.	1.477296	0.19022	14.05	0.99877162239380657	0.95410	0.04602	0.10258	N	AEFDBCI	0.047876	0.08110	N	-0.69739976560952	0.16095	0.8170425	-0.699007074731105	0.16985	0.9011098	0.797707424524042	0.24130	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.61	1.48	0.21900	-1.549000	0.02286	0.381000	0.17781	0.549000	0.26987	0.002000	0.15269	0.928000	0.28476	0.471000	0.28363	0.0:0.5692:0.0:0.4308	5.536	0.16301	976	0.04745	7TM GPCR, serpentine receptor class x  (Srx)|GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1249.33	66	chr11	3228399	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=1134;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.708;SOR=0.858	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1374	18	0	1	0
chr11	3228500	3228512	TGCCAGGCTGGTC	-	exonic	MRGPRE	.	frameshift deletion	MRGPRE:NM_001039165:exon2:c.288_300del:p.T97Rfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3120.29	66	chr11	3228499	.	TTGCCAGGCTGGTC	T	3120.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.582;DP=1236;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.66;ReadPosRankSum=-0.792;SOR=0.741	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1374	18	0	1	0
chr11	3667669	3667669	G	A	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_020402:exon4:c.C458T:p.S153L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.0833430827671	.	.	4.045e-05	0	0	0	0	9.325e-05	0	0	6.5e-06	1	154602	rs748015833	2.409e-05	2.463e-05	3.653e-05	1.143e-05	3.652e-05	1.734e-05	1.53e-05	1.948e-05	1.691e-05	0	0	0	0	0	0	2.746e-05	1.703e-05	3.652e-05	3.943e-05	3.94e-05	3.854e-05	4.035e-05	8.822e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.996	0.68779	D	0.905	0.64260	P	0.011169	0.29634	N	0.160657	0.99997	0.81001	D	2.935	0.84639	M	-1.35	0.80035	T	-5.25	0.84035	D	0.908	0.90932	0.520	0.90829	D	0.678	0.88877	D	10	0.9280337	0.92147	D	0.083343	0.74095	D	0.798	0.93385	0.736	0.86892	0.902511862579	0.90153	0.7003268252067109	0.69973	0.30959749131	0.33265	0.872434794903	0.92915	D	0.504664	0.82364	D	0.347982	0.86369	D	0.262076	0.86189	D	0.969575941562653	0.68638	D	0.967253	0.88140	D	0.62659955	0.74117	0.70698243	0.82723	0.62659955	0.74118	0.70698243	0.82724	-9.706	0.72133	D	.	.	0.509	0.64984	A	.	.	5.379685	0.90166	31	0.99831323216736956	0.91284	0.99649	0.98332	D	AEFDBI	0.900555	0.84623	D	0.805701514922166	0.86462	8.893	0.733843810022734	0.84947	8.43616	0.999999999998142	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.8	4.8	0.61157	9.813000	0.98274	11.536000	0.93110	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	16.588	0.84584	840	0.37365	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1076.33	38	chr11	3667669	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-2.555;SOR=0.739	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1395	18	0	1	0
chr11	3679579	3679579	A	G	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon30:c.T4907C:p.I1636T,NUP98:NM_139132:exon30:c.T4826C:p.I1609T,NUP98:NM_001365126:exon31:c.T5099C:p.I1700T,NUP98:NM_001365127:exon31:c.T5024C:p.I1675T,NUP98:NM_001365128:exon31:c.T4997C:p.I1666T,NUP98:NM_016320:exon31:c.T5048C:p.I1683T,NUP98:NM_001365125:exon32:c.T5141C:p.I1714T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.014945446126	0.0007	.	0.0003	0	0	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs138664271	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0	2.519e-05	0	0.0003	0.0002	0.0003	8.116e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.413e-05	0	6.551e-05	0	0	0	0	0.0004	0.0005	0	0.028	0.46129	D	0.063	0.47581	T	0.694	0.41705	P	0.514	0.48013	P	0.001096	0.40303	N	0.246458	0.830831	0.34915	D	1.845	0.48678	L	.	.	.	0.15	0.10480	N	0.42	0.53445	-0.9971	0.30728	T	0.116	0.40986	T	9	0.12792426	0.24330	T	0.014945	0.35393	T	0.165	0.42395	.	.	0.196089822672	0.19227	0.24632864909759927	0.24546	0.337728775894	0.35759	0.535238981247	0.43773	T	0.060397	0.31377	T	-0.225611	0.17233	T	-0.245695	0.50242	T	0.0875986191225355	0.10931	T	0.89611	0.63771	D	0.07091273	0.15659	0.12552759	0.30244	0.07091273	0.15658	0.12552759	0.30243	-1.008	0.03114	T	.	.	0.078	0.39815	B	.;.;.	.;.;.	3.154685	0.42722	21.6	0.94797503179658626	0.25544	0.98481	0.83233	D	AEFBI	0.365619	0.45372	N	-0.0103068491977112	0.41388	2.47469	0.0899817858806488	0.44043	2.693761	0.988956480529421	0.31679	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	5.078000	0.64255	9.314000	0.79985	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.8673:0.0:0.0:0.1327	11.650	0.50542	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1563.33	33	chr11	3679579	.	A	G	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.274;DP=720;ExcessHet=0;FS=3.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.17;SOR=0.388	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1384	18	0	1	0
chr11	3702637	3702637	T	C	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon22:c.A3197G:p.K1066R,NUP98:NM_001365126:exon23:c.A3389G:p.K1130R,NUP98:NM_001365127:exon23:c.A3314G:p.K1105R,NUP98:NM_001365128:exon23:c.A3287G:p.K1096R,NUP98:NM_016320:exon23:c.A3338G:p.K1113R,NUP98:NM_139132:exon23:c.A3338G:p.K1113R,NUP98:NM_001365125:exon24:c.A3431G:p.K1144R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00179362366667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.13436	T	0.706	0.16086	T	0.001	0.07471	B	0.002	0.06944	B	0.003553	0.34793	N	0.319538	0.999807	0.20292	N	2.075	0.57047	M	.	.	.	0.2	0.04861	N	0.2	0.23380	-1.0452	0.15767	T	0.068	0.27811	T	9	0.11644369	0.21965	T	0.001794	0.03063	T	0.059	0.16972	0.416	0.45544	0.328504224676	0.32467	0.740457671516926	0.73990	0.165330610218	0.18651	0.457846939564	0.33015	T	0.037835	0.24623	T	-0.144454	0.29184	T	-0.445274	0.28220	T	0.106972459790582	0.13107	T	0.864914	0.56300	D	0.05425297	0.10382	0.12714088	0.30609	0.05425297	0.10382	0.12714088	0.30609	-3.643	0.18729	T	.	.	0.068	0.10497	B	.;.;.	.;.;.	2.225748	0.28409	17.79	0.96830715148539015	0.31263	0.52766	0.29210	D	AEFGBI	0.067578	0.13292	N	-0.37552652152788	0.26343	1.437029	-0.186635112707314	0.32026	1.818099	0.997865628292989	0.36124	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	1.356000	0.33683	6.209000	0.54989	0.665000	0.62972	0.465000	0.26683	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.1606:0.8394	10.646	0.44816	525	0.74024	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3534.33	36	chr11	3702637	.	T	C	3534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.783;DP=918;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-0.316;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	18	0	1	0
chr11	4091634	4091634	G	A	exonic	STIM1	.	nonsynonymous SNV	STIM1:NM_001382570:exon10:c.G1666A:p.D556N,STIM1:NM_001382571:exon10:c.G1414A:p.D472N,STIM1:NM_001382569:exon11:c.G1759A:p.D587N,STIM1:NM_001382581:exon11:c.G1405A:p.D469N,STIM1:NM_001277961:exon12:c.G2212A:p.D738N,STIM1:NM_001382566:exon12:c.G1990A:p.D664N,STIM1:NM_001382568:exon12:c.G1915A:p.D639N,STIM1:NM_001382575:exon12:c.G1672A:p.D558N,STIM1:NM_001382576:exon12:c.G1672A:p.D558N,STIM1:NM_001382577:exon12:c.G1672A:p.D558N,STIM1:NM_003156:exon12:c.G1894A:p.D632N,STIM1:NM_001382567:exon13:c.G1987A:p.D663N	Immunodeficiency 10, Autosomal recessive;Myopathy, tubular aggregate, 1, Autosomal dominant;Stormorken syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640049	Combined_immunodeficiency_due_to_STIM1_deficiency|Stormorken_syndrome|Myopathy_with_tubular_aggregates|not_provided	MONDO:MONDO:0013008,MedGen:C2748557,OMIM:612783,Orphanet:169090,Orphanet:317430|MONDO:MONDO:0008497,MedGen:C1861451,OMIM:185070,Orphanet:3204|MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0231655710562	7.7e-05	.	6.59e-05	0	0	0	0	8.991e-05	0	0.0001	5.17e-05	8	154602	rs369549218	5.404e-05	5.404e-05	4.628e-05	6.188e-05	6.295e-05	4.41e-05	4.082e-05	5.073e-05	4.653e-05	0	0	0	2.519e-05	0	0	6.295e-05	6.623e-05	4.637e-05	7.885e-05	7.88e-05	0.0001	5.38e-05	0.0002	4.497e-05	3.512e-05	9.048e-05	7.012e-05	0	0	0	0	0.0002	0	0	0.0002	0	0	0.073	0.36709	T	0.363	0.37173	T	0.421	0.35387	B	0.026	0.20792	B	0.014477	0.28523	N	0.412228	0.831353	0.81001	D	1.245	0.31408	L	-0.07	0.63738	T	-0.75	0.24676	N	0.182	0.23632	-0.8974	0.48254	T	0.113	0.40284	T	10	0.15165588	0.28662	T	0.023166	0.46115	T	0.089	0.25827	.	.	0.769001717025	0.76688	0.20669362888323548	0.20585	0.415967373236	0.42239	0.527182936668	0.42639	T	0.266526	0.63848	T	-0.227142	0.17028	T	-0.378147	0.35940	T	0.156413406133652	0.17603	T	0.869413	0.58193	D	0.12906408	0.30156	0.07077818	0.15078	0.12906408	0.30156	0.07077818	0.15077	-3.789	0.20640	T	0.11140760537921174	0.09523	0.096	0.27039	B	.;.;.	.;.;.	4.076880	0.60617	24.2	0.99886141502952819	0.96126	0.96544	0.69671	D	AEFDBHCI	0.906601	0.85958	D	0.0476310778044958	0.44034	2.684865	0.212668020180628	0.50550	3.24585	0.999999996925269	0.74766	0.758104	0.99027	0	0.698795	0.70079	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	4.914000	0.63046	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1868:0.8132:0.0	11.137	0.47607	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1460.33	34	chr11	4091634	.	G	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.076;DP=744;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.633;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	18	0	1	0
chr11	4138250	4138250	A	G	exonic	RRM1	.	nonsynonymous SNV	RRM1:NM_001318065:exon13:c.A1232G:p.Q411R,RRM1:NM_001330193:exon13:c.A1580G:p.Q527R,RRM1:NM_001318064:exon18:c.A1955G:p.Q652R,RRM1:NM_001033:exon19:c.A2246G:p.Q749R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.072589215097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.052	0.47581	T	0.888	0.48822	P	0.409	0.44752	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.315	0.66250	M	0.97	0.42502	T	-3.13	0.63901	D	0.738	0.73826	-0.6299	0.63575	T	0.189	0.53960	T	10	0.6734218	0.70849	D	0.072589	0.71571	D	0.421	0.73005	0.389	0.41115	0.8199705796	0.81827	0.8065140325601788	0.80606	1.25690945348	0.81934	0.862648963928	0.91501	D	0.580575	0.86259	D	0.22129	0.75897	D	0.080092	0.75583	D	0.938922107219696	0.60995	D	0.964504	0.86839	D	0.49466336	0.66780	0.47106132	0.69331	0.49466336	0.66781	0.47106132	0.69331	-9.178	0.68836	D	.	.	0.398	0.61119	A	.;.	.;.	4.263848	0.64821	24.8	0.99607525739095115	0.74575	0.98674	0.85428	D	AEFDBI	0.931635	0.92074	D	0.619917193119437	0.74436	6.132313	0.598777419740982	0.74851	6.20809	0.999895717065915	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.4	0.52402	8.947000	0.92735	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8612:0.0:0.0:0.1388	11.095	0.47357	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2055.33	49	chr11	4138250	.	A	G	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.123;DP=1007;ExcessHet=0;FS=5.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.175;SOR=0.371	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	18	0	1	0
chr11	4449588	4449588	G	A	exonic	OR52K2	.	nonsynonymous SNV	OR52K2:NM_001005172:exon1:c.G249A:p.M83I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00308010424469	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs146429000	6.362e-05	6.362e-05	3.539e-05	9.213e-05	0.0010	5.294e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0.0002	0	4.967e-05	0.0010	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.108	0.29420	T	0.076	0.42614	T	0.067	0.23653	B	0.05	0.25278	B	0.001662	0.38326	N	0.121207	0.595195	0.32490	D	1.77	0.45869	L	3.43	0.05440	T	-2.11	0.48020	N	0.124	0.11626	-1.0922	0.05175	T	0.029	0.12497	T	10	0.022012562	0.00539	T	0.00308	0.06666	T	0.074	0.21613	0.377	0.39156	0.290222751274	0.28632	0.20754934719375098	0.20670	0.00339618764331	0.00292	0.357965350151	0.19089	T	0.014765	0.12509	T	-0.538884	0.00340	T	-0.592398	0.13459	T	0.0672389742899418	0.08258	T	0.858914	0.54988	D	0.30653828	0.53484	0.22991493	0.48078	0.30653828	0.53485	0.22991493	0.48077	-7.123	0.54926	T	.	.	0.534	0.66094	A	.	.	1.817767	0.23100	15.89	0.98632780997232627	0.43933	0.86412	0.45687	D	AEFBI	0.282321	0.39569	N	-0.0314233915002575	0.40436	2.40131	0.0619259142320546	0.42652	2.583577	0.999517306224671	0.40117	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.37	4.37	0.51830	0.260000	0.18192	.	.	0.613000	0.49114	0.454000	0.26597	0.000000	0.08366	0.833000	0.39279	0.0:0.0:1.0:0.0	15.683	0.77145	877	0.30165	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4624.33	39	chr11	4449588	.	G	A	4624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.209;DP=980;ExcessHet=0;FS=4.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=2.07;QD=13.6;ReadPosRankSum=-0.503;SOR=0.492	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	18	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1245.14	135	chr11	4488904	.	C	T	1245.14	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.131;DP=1915;ExcessHet=11.1788;FS=183.82;InbreedingCoeff=-0.4989;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.31;SOR=12.726	GT:AD:DP:GQ:PL	0/0:58,24:116:99:138,108,860	16	0	2	1
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.02632	955.29	33	chr11	4545229	.	CT	C	955.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.942;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	18	0	1	0
chr11	4545963	4545963	T	C	exonic	OR52M1	.	nonsynonymous SNV	OR52M1:NM_001004137:exon1:c.T773C:p.I258T	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0050	0.00359425	0.0012	0.0134	0.0004	0	0	0	0	0	0.0011125	172	154602	rs111748026	0.0004	0.0004	0.0005	0.0003	0.0140	0.0004	0.0004	0.0130	0.0125	0.0140	0.0004	0	0	0	0.0010	2.518e-05	0.0011	1.159e-05	0.0038	0.0038	0.0039	0.0036	0.0134	0.0035	0.0034	0.0125	0.0121	0.0134	0	0.0005	0	0	0	0	8.822e-05	0.0009	0	0.03	0.45393	D	0.043	0.49942	D	0.022	0.18677	B	0.02	0.19048	B	0.000198	0.48115	D	0.000000	0.995774	0.23204	N	1.8	0.47472	L	1.18	0.37746	T	0.08	0.06026	N	0.096	0.07673	-1.0499	0.14425	T	0.036	0.15683	T	10	0.004607916	0.00096	T	.	.	.	0.119	0.33137	.	.	0.373715746628	0.36985	0.1143361205998894	0.11361	.	.	0.220195114613	0.01321	T	0.002313	0.01710	T	-0.517681	0.00454	T	-0.504066	0.21926	T	0.017522945614658	0.00487	T	0.320668	0.06474	T	0.096516065	0.22734	0.0819402	0.18662	0.096516065	0.22734	0.0819402	0.18661	-4.564	0.31716	T	.	.	0.359	0.57136	A	.	.	1.852508	0.23531	16.05	0.98752869835112256	0.45694	0.09077	0.14904	N	AEFBI	0.056890	0.10553	N	-0.347247966392236	0.27374	1.501325	-0.256829266493838	0.29537	1.655595	0.00295229161137247	0.09827	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.91	3.8	0.42887	-2.392000	0.01134	.	.	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.156:0.0872:0.0:0.7569	5.524	0.16234	800	0.44535	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1591.33	33	chr11	4545963	.	T	C	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.169;DP=1322;ExcessHet=0;FS=3.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.947;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	18	0	1	0
chr11	4586900	4586900	C	A	exonic	OR52I2	.	nonsynonymous SNV	OR52I2:NM_001005170:exon1:c.C88A:p.P30T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00157636899361	0.0023	0.00159744	0.0005	0.0055	0.0003	0	0	0	0	0	0.0004528	70	154602	rs138816802	0.0002	0.0002	0.0002	0.0001	0.0058	0.0002	0.0001	0.0051	0.0049	0.0058	0.0002	0	0	0	0.0010	2.698e-06	0.0006	1.159e-05	0.0017	0.0017	0.0017	0.0016	0.0055	0.0015	0.0014	0.0049	0.0047	0.0055	0	0.0010	0	0	0	0	7.352e-05	0.0014	0	0.097	0.30943	T	0.215	0.26306	T	0.003	0.11197	B	0.003	0.08700	B	0.903875	0.07373	N	1.061420	1	0.08975	N	0.67	0.16346	N	1.15	0.38236	T	-0.33	0.12472	N	0.055	0.02658	-0.9973	0.30673	T	0.038	0.16419	T	10	0.005074322	0.00110	T	0.001576	0.02497	T	0.021	0.04004	.	.	0.0482279557977	0.04254	0.0887850127518402	0.08811	0.200644156169	0.22463	0.220126777887	0.01317	T	8.24E-4	0.00404	T	-0.592108	0.00163	T	-0.620825	0.11121	T	0.0120336990281662	0.00190	T	0.592541	0.22456	T	0.033336163	0.03532	0.036083065	0.02983	0.033336163	0.03532	0.036083065	0.02983	-3.653	0.18627	T	.	.	0.067	0.05535	B	.;.;.	.;.;.	0.220106	0.06026	2.467	0.27213487042815615	0.01340	0.01746	0.05505	N	AEFGBI	0.034590	0.04311	N	-1.14565970389825	0.05851	0.2678475	-1.19663585087306	0.05966	0.2857773	4.97367140149368E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.14	-0.355	0.11961	-0.533000	0.06245	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.1789:0.3124:0.1745:0.3342	0.52	0.00570	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5006.33	33	chr11	4586900	.	C	A	5006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.358;DP=1251;ExcessHet=0;FS=1.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59;MQRankSum=4.52;QD=15.74;ReadPosRankSum=-0.559;SOR=0.821	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr11	4594529	4594529	G	A	exonic	OR52I1	.	nonsynonymous SNV	OR52I1:NM_001005169:exon1:c.G491A:p.S164N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0160246176778	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382724876	6.84e-06	6.84e-06	5.445e-06	8.25e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.01	0.56456	D	0.03	0.54159	D	0.998	0.73220	D	0.96	0.70309	D	0.000073	0.52346	D	0.000000	.	.	.	0.87	0.21467	L	1.19	0.37578	T	-1.48	0.36189	N	0.27	0.30574	-0.6801	0.61368	T	0.161	0.49665	T	9	0.33888692	0.50985	T	0.016025	0.37081	T	0.086	0.25016	0.499	0.58991	0.586510501665	0.58324	0.326276444758473	0.32540	1.02818934709	0.75339	0.288121044636	0.08649	T	0.004316	0.03719	T	-0.259283	0.12984	T	-0.594733	0.13259	T	0.405021905899048	0.29131	T	0.755224	0.37818	T	0.276624	0.50723	0.25902528	0.51644	0.276624	0.50723	0.25902528	0.51644	-6.064	0.46811	T	.	.	0.232	0.48644	B	.;.	.;.	3.041437	0.40780	21.2	0.98971732420157965	0.49540	0.07996	0.13976	N	AEFDGI	0.150037	0.27425	N	0.0240394387147319	0.42950	2.597625	-0.13182694754543	0.34116	1.958808	5.54062715130924E-4	0.07304	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	4.96	1.75	0.23707	0.496000	0.22207	.	.	-0.244000	0.07312	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4271:0.42:0.1529	8.827	0.34222	835	0.38313	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4780.33	38	chr11	4594529	.	G	A	4780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=1056;ExcessHet=0;FS=1.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=1.27;SOR=0.574	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	4602217	4602217	C	A	exonic	TRIM68	.	nonsynonymous SNV	TRIM68:NM_001304496:exon3:c.G49T:p.V17F,TRIM68:NM_018073:exon4:c.G718T:p.V240F	.	.	.	.	.	.	.	.	.	.	.	2702806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00773304961372	.	0.000199681	9.884e-05	0	0	0	0	4.495e-05	0	0.0005	8.41e-05	13	154602	rs563820880	3.557e-05	3.557e-05	3.947e-05	3.163e-05	0.0003	2.762e-05	2.501e-05	0.0002	0.0002	0	0	0	0	0.0003	0	0	8.279e-05	0.0003	5.909e-05	5.906e-05	5.14e-05	6.712e-05	0.0008	3.075e-05	2.208e-05	0.0003	0.0002	0	0	0	0	0	0.0004	0	1.47e-05	0	0.0008	0.032	0.44694	D	0.706	0.23298	T	0.001	0.07471	B	0.003	0.08700	B	0.528637	0.11663	N	0.697745	1	0.08975	N	1.525	0.38595	L	3.55	0.04746	T	-1.42	0.34992	N	0.337	0.37820	-0.9033	0.47639	T	0.008	0.02679	T	10	0.03956005	0.02456	T	0.007733	0.20510	T	0.020	0.03691	0.413	0.45052	0.134241683229	0.13084	0.3495100803008299	0.34865	0.10904124283	0.12296	0.51902538538	0.41489	T	0.042286	0.26133	T	-0.476953	0.00771	T	-0.594926	0.13242	T	0.0198749960749801	0.00689	T	0.645735	0.25721	T	0.05774831	0.11530	0.077456474	0.17255	0.05774831	0.11530	0.077456474	0.17255	-3.988	0.23624	T	.	.	0.114	0.22644	B	.;.	.;.	1.240006	0.16358	12.49	0.93953088637674353	0.24015	0.02132	0.06289	N	AEFBI	0.035260	0.04508	N	-1.07695427920544	0.07070	0.3273382	-1.07361912040608	0.08221	0.4033197	0.0311427313284672	0.13985	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.17	-0.415	0.11739	-0.751000	0.04908	.	.	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.695000	0.33988	0.3718:0.4102:0.0:0.218	3.011	0.05678	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1563.33	33	chr11	4602217	.	C	A	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.291;DP=780;ExcessHet=0;FS=4.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.636;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1424	18	0	1	0
chr11	4605296	4605296	C	T	exonic	TRIM68	.	nonsynonymous SNV	TRIM68:NM_018073:exon2:c.G209A:p.R70Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	3935672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.231833780828	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs750120044	4.583e-05	4.583e-05	3.811e-05	5.363e-05	9.275e-05	3.661e-05	3.347e-05	4.578e-05	3.272e-05	0	0	0	0	3.744e-05	0	4.317e-05	0.0001	9.275e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	0.627	0.90584	P	0.087	0.86255	B	0.025920	0.26008	N	0.182208	1	0.08975	N	2.265	0.64440	M	-1.88	0.84487	D	-3.42	0.67241	D	0.334	0.37509	-0.1336	0.79317	T	0.690	0.89290	D	10	0.24407592	0.41633	T	0.231834	0.88294	D	0.362	0.68230	.	.	0.852539150488	0.85112	0.355579484717085	0.35471	0.48101912929	0.47108	0.600559592247	0.52983	T	0.250293	0.62037	T	-0.139573	0.29959	T	-0.235609	0.51227	T	0.570689141750336	0.35261	D	0.884312	0.68110	D	0.51695347	0.68084	0.46155044	0.68732	0.51695347	0.68085	0.46155044	0.68732	-5.204	0.38982	T	.	.	0.221	0.45605	B	.;.	.;.	2.814739	0.37065	20.4	0.99934239429048266	0.99535	0.12307	0.17188	N	AEFDBI	0.071779	0.14302	N	0.0308383457331289	0.43262	2.622584	-0.061358014127814	0.37003	2.160772	0.498691919029974	0.20924	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.7	3.78	0.42629	1.609000	0.36469	.	.	0.513000	0.23382	0.002000	0.15269	0.079000	0.22353	0.932000	0.46971	0.0:0.9012:0.0:0.0988	10.228	0.42415	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2843.33	33	chr11	4605296	.	C	T	2843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.316;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,107,1800	14	0	5	0
chr11	4769334	4769334	C	T	exonic	OR51F1	.	nonsynonymous SNV	OR51F1:NM_001004752:exon1:c.G605A:p.R202Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0045	0.00359425	0.0013	0.0141	0.0003	0.0001	0	1.498e-05	0	6.057e-05	0.0012225	189	154602	rs16938368	0.0004	0.0004	0.0005	0.0003	0.0140	0.0004	0.0004	0.0129	0.0125	0.0140	0.0007	0	0.0002	0	0	4.679e-05	0.0007	4.638e-05	0.0041	0.0041	0.0044	0.0039	0.0140	0.0039	0.0038	0.0131	0.0127	0.0140	0	0.0022	0	0	0	0.0034	8.824e-05	0.0038	0	0.081	0.33418	T	.	.	.	0.126	0.26920	B	0.029	0.21540	B	0.530529	0.11643	N	0.722649	1	0.08975	N	1.82	0.47800	L	8.78	0.00058	T	-1.59	0.38345	N	0.058	0.02964	-1.0433	0.16324	T	0.000	0.00114	T	10	0.003645748	0.00067	T	.	.	.	0.020	0.03691	.	.	0.21279746466	0.20884	0.05900155648494125	0.05841	.	.	0.153796985745	0.00006	T	0.005421	0.04871	T	-0.74868	0.00018	T	-0.835229	0.01173	T	0.00935904503992739	0.00120	T	0.0389961	0.00280	T	0.0918455	0.21533	0.1516062	0.35705	0.0918455	0.21532	0.1516062	0.35704	-5.172	0.38656	T	.	.	0.087	0.11414	B	.;.	.;.	0.292293	0.06685	3.189	0.74472562937448017	0.10708	0.01765	0.05546	N	AEFI	0.059580	0.11263	N	-1.3211759227173	0.03433	0.1533606	-1.43940743252174	0.02867	0.1326976	6.30443221643867E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	-4.26	0.03497	-4.210000	0.00311	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.271000	0.23793	0.0:0.3071:0.2029:0.49	7.482	0.26577	848	0.35897	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2144.33	34	chr11	4769334	.	C	T	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1390;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.94;SOR=0.812	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	18	0	1	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.039402	0.023392	0.000000	0.043103	0.003049	0.003788	0.05263	6873.81	33	chr11	4821609	.	A	G	6873.81	.	AC=2;AF=0.053;AN=38;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.53;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1303	18	1	0	0
chr11	4821632	4821632	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A211G:p.T71A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0055	0.00559105	0.0021	0.0166	0.0019	0	0	0.0007	0.0055	6.057e-05	0.0019857	307	154602	rs61741857	0.0010	0.0010	0.0010	0.0009	0.0151	0.0009	0.0009	0.0140	0.0136	0.0151	0.0022	0.0082	0	0	0.0035	0.0004	0.0023	0.0001	0.0054	0.0055	0.0058	0.0051	0.0164	0.0051	0.0050	0.0153	0.0149	0.0164	0	0.0054	0.0069	0	0	0.0034	0.0004	0.0066	0.0002	.	.	.	.	.	.	0.189	0.29346	B	0.085	0.29395	B	0.000800	0.41772	U	0.000000	1	0.81001	D	0.925	0.23481	L	.	.	.	.	.	.	.	.	-1.0147	0.25432	T	0.007	0.02321	T	10	0.0049483776	0.00106	T	.	.	.	0.074	0.21613	.	.	0.0297737177859	0.01360	0.1062458719602817	0.10554	0.0249215528783	0.02537	0.255449712276	0.04363	T	0.013322	0.11547	T	-0.597347	0.00151	T	-0.61785	0.11353	T	0.0327221614041273	0.02425	T	0.664534	0.27348	T	0.25413796	0.48439	0.32586655	0.58498	0.25413796	0.48439	0.32586655	0.58497	-5.031	0.37175	T	.	.	0.090	0.12465	B	.;.	.;.	2.129730	0.27116	17.35	0.98599324429409119	0.43480	0.63134	0.31995	D	AEFBI	0.342935	0.43892	N	-0.208732766245398	0.32776	1.852178	-0.152325924336802	0.33320	1.90469	0.988030465035122	0.31402	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	2.171000	0.42080	.	.	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.665000	0.33109	1.0:0.0:0.0:0.0	12.924	0.57645	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.045455	0.016304	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1904.33	33	chr11	4821632	.	A	G	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.272;DP=799;ExcessHet=0;FS=8.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.41;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1303	18	0	1	0
chr11	4821684	4821684	G	T	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.G263T:p.W88L	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0055	0.00559105	0.0021	0.0167	0.0019	0	0	0.0007	0.0055	6.056e-05	0.0019922	308	154602	rs61743166	0.0010	0.0010	0.0010	0.0009	0.0150	0.0009	0.0009	0.0139	0.0135	0.0150	0.0022	0.0082	0	0	0.0035	0.0004	0.0023	0.0001	0.0054	0.0055	0.0058	0.0051	0.0164	0.0051	0.0050	0.0154	0.0150	0.0164	0	0.0053	0.0066	0	0	0.0034	0.0004	0.0066	0.0002	.	.	.	.	.	.	0.996	0.68779	D	0.916	0.65201	D	0.001575	0.38612	U	0.000000	1	0.81001	D	0.795	0.19620	N	.	.	.	.	.	.	.	.	-0.7176	0.59580	T	0.005	0.01578	T	10	0.007460505	0.00169	T	.	.	.	0.158	0.41098	.	.	0.156986980423	0.15292	0.1276035621039089	0.12686	0.0325699570458	0.03404	0.384838730097	0.22941	T	0.025828	0.19234	T	-0.547885	0.00300	T	-0.546802	0.17635	T	0.0598168465909884	0.07139	T	0.824018	0.48536	T	0.510097	0.67685	0.58627945	0.76006	0.510097	0.67686	0.58627945	0.76006	-4.638	0.32646	T	.	.	0.127	0.27100	B	.;.	.;.	3.596454	0.50772	23.0	0.9865183816742048	0.44206	0.80417	0.40060	D	AEFBI	0.304582	0.41224	N	0.374470133570327	0.60041	4.18899	0.392918861745797	0.61127	4.308661	4.81391886049725E-4	0.07123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	1.817000	0.38640	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.151000	0.20341	0.0:0.0:1.0:0.0	16.123	0.81185	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.040404	0.014946	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2262.33	33	chr11	4821684	.	G	T	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=809;ExcessHet=0;FS=2.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-2.671;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1303	18	0	1	0
chr11	4848840	4848840	C	A	exonic	OR51S1	.	nonsynonymous SNV	OR51S1:NM_001004758:exon1:c.G369T:p.L123F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	0.0043	0.00399361	0.0014	0.0134	0.0010	0	0	0.0001	0.0033	0	0.0012484	193	154602	rs115775855	0.0004	0.0004	0.0005	0.0004	0.0120	0.0004	0.0004	0.0110	0.0107	0.0120	0.0011	0.0020	2.519e-05	0	0.0007	4.406e-05	0.0011	5.797e-05	0.0037	0.0037	0.0039	0.0035	0.0125	0.0035	0.0034	0.0116	0.0113	0.0125	0	0.0020	0.0020	0	0	0.0034	0	0.0033	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.945	0.68163	D	0.008883	0.30616	N	0.000000	1	0.81001	D	2.265	0.64440	M	-1.49	0.81235	T	-3.77	0.71397	D	0.71	0.71321	-0.5452	0.66967	T	0.346	0.71099	T	10	0.01670596	0.00353	T	.	.	.	0.400	0.71401	0.605	0.73706	0.775588850733	0.77352	0.5199054794753335	0.51913	0.043626133456	0.04699	0.369202435017	0.20718	T	0.024313	0.18398	T	-0.372172	0.03485	T	-0.296344	0.45110	T	0.0844940584183618	0.10552	T	0.725927	0.34027	T	0.3580031	0.57684	0.45112792	0.68063	0.3580031	0.57684	0.45112792	0.68063	-6.839	0.52848	T	.	.	0.420	0.60672	A	.	.	2.089023	0.26572	17.16	0.99789247147227644	0.87484	0.06019	0.11985	N	AEFI	0.121289	0.23587	N	-0.196960325984944	0.33261	1.884964	-0.37261722942614	0.25817	1.422096	1.67687663744507E-6	0.01202	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.98	-0.176	0.12658	-2.005000	0.01549	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.496000	0.28927	0.1361:0.3411:0.1327:0.3901	1.570	0.02455	743	0.52768	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1712.33	109	chr11	4848840	.	C	A	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.114;DP=1389;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.221;SOR=0.49	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	18	0	1	0
chr11	4946234	4946234	G	T	exonic	OR51A4	.	nonsynonymous SNV	OR51A4:NM_001005329:exon1:c.C867A:p.N289K	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	.	.	0.0153754	0.0088	0.0006	0.0831	0.0096	0	0.0004	0.0022	0.0012	0.0085445	1321	154602	rs199749360	0.0034	0.0047	0.0039	0.0030	0.0888	0.0034	0.0033	0.0864	0.0854	0.0006	0.0888	0.0049	0.0200	0	0.0003	8.275e-05	0.0033	0.0013	0.0082	0.0090	0.0073	0.0093	0.0657	0.0079	0.0077	0.0623	0.0609	0.0016	0	0.0657	0.0078	0.0199	0	0	0.0002	0.0114	0.0023	0.005	0.63226	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4	0.96753	H	-1.98	0.85247	D	-5.63	0.86836	D	0.828	0.82358	0.347	0.88296	D	0.821	0.93969	D	9	0.016762316	0.00355	T	.	.	.	0.605	0.84452	0.755	0.88484	.	.	0.453392044027209	0.45257	1.37714289507	0.84704	0.360686719418	0.19486	T	0.058178	0.30772	T	-0.266933	0.12101	T	-0.148245	0.59399	T	0.1201296758224	0.14443	T	0.743426	0.36288	T	0.6984757	0.77973	0.5810491	0.75715	0.6984757	0.77975	0.5810491	0.75716	-7.261	0.55918	T	.	.	0.602	0.70816	P	.;.	.;.	1.560427	0.19987	14.54	0.99256589195648126	0.57055	0.78568	0.38782	D	AEFGI	0.289590	0.40119	N	0.0557302249965139	0.44405	2.715296	-0.295846267243409	0.28236	1.572678	7.1569933174362E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	-4.55	0.03197	-0.336000	0.07908	.	.	0.618000	0.50648	0.220000	0.24536	0.000000	0.08366	0.020000	0.11549	0.5398:0.0:0.4602:0.0	10.790	0.45625	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	509.33	34	chr11	4946234	.	G	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.47;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.44;MQRankSum=-8.469;QD=5.31;ReadPosRankSum=-0.661;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:4946234_G_T:523,0,1996:4946234	18	0	1	0
chr11	4946320	4946320	C	T	exonic	OR51A4	.	nonsynonymous SNV	OR51A4:NM_001005329:exon1:c.G781A:p.V261I	.	424	1095	3	0	0	3	0.00136799	.	.	.	2396365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00323729621663	.	.	9.065e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs763198309	5.815e-05	6.567e-05	5.309e-05	6.326e-05	0.0002	4.81e-05	4.431e-05	4.178e-05	3.826e-05	5.98e-05	6.708e-05	3.826e-05	5.038e-05	0	0.0002	5.306e-05	0.0002	6.956e-05	5.924e-05	7.225e-05	7.718e-05	4.043e-05	0.0002	3.082e-05	2.213e-05	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	8.821e-05	0	0	0.525	0.07140	T	0.42	0.14116	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.105	0.08473	N	1.35	0.34648	T	0.2	0.04861	N	0.033	0.00882	-1.0114	0.26478	T	0.039	0.16935	T	9	0.03767398	0.02137	T	0.003237	0.07147	T	0.005	0.00259	0.254	0.19378	0.0482279557977	0.04254	0.021419742424918873	0.02094	0.346059605865	0.36514	0.194121658802	0.00307	T	0.002661	0.02055	T	-0.514262	0.00475	T	-0.772879	0.02674	T	0.018304486768816	0.00549	T	0.753825	0.37593	T	0.020959476	0.00675	0.037086137	0.03288	0.020959476	0.00675	0.037086137	0.03287	-3.413	0.15232	T	.	.	0.074	0.05188	B	.;.	.;.	-0.826290	0.01056	0.045	0.70323570944678504	0.09258	0.00150	0.00907	N	AEFDGI	0.020455	0.00810	N	-1.80450260771326	0.00534	0.02300207	-1.84787226500079	0.00618	0.02745273	4.60860677197865E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-3.51	0.04397	-2.589000	0.00974	.	.	-3.329000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6494:0.0:0.3506	11.285	0.48452	851	0.35303	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1596.33	122	chr11	4946320	.	C	T	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.622;DP=1691;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.39;MQRankSum=5.95;QD=9.07;ReadPosRankSum=-0.675;SOR=0.88	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr11	4999313	4999313	T	C	exonic	OR51L1	.	nonsynonymous SNV	OR51L1:NM_001004755:exon3:c.T331C:p.F111L	.	.	.	.	.	.	.	.	.	.	.	2764385	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.00343203194161	0.0006	.	9.062e-05	0.0011	0	0	0	0	0	0	7.12e-05	11	154602	rs138440814	2.326e-05	2.326e-05	2.722e-05	1.925e-05	0.0009	1.674e-05	1.477e-05	0.0007	0.0006	0.0009	0	0	0	0	0	0	3.311e-05	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0	0	0	0	0.352	0.12226	T	0.425	0.13912	T	0.007	0.14184	B	0.007	0.12992	B	0.019046	0.27344	N	0.175081	0.999962	0.18878	N	0.215	0.09537	N	4.11	0.02916	T	-0.88	0.23808	N	0.094	0.07398	-0.9241	0.44985	T	0.008	0.02926	T	10	0.019286186	0.00429	T	0.003432	0.07725	T	0.117	0.32689	0.231	0.15855	0.186928172975	0.18263	0.18983102472498348	0.18901	0.0377200124291	0.04003	0.420364558697	0.27886	T	0.003053	0.02453	T	-0.520638	0.00436	T	-0.576985	0.14815	T	0.0325589085718605	0.02399	T	0.410359	0.10588	T	0.27428803	0.50495	0.18489279	0.41569	0.27428803	0.50495	0.18489279	0.41568	-4.775	0.34298	T	.	.	0.843	0.80211	P	.;.	.;.	1.797569	0.22847	15.79	0.96891601614480116	0.31500	0.25935	0.22847	N	AEFI	0.131081	0.24988	N	-0.507129115871591	0.21848	1.162524	-0.352793698478478	0.26422	1.459364	0.00239001602540038	0.09378	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	-2.030000	0.01516	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.0:0.0:1.0	14.045	0.64221	882	0.29131	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2714.33	285	chr11	4999313	.	T	C	2714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=2591;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.606;SOR=0.534	GT:AD:DP:GQ:PL	0/0:222,0:222:99:0,120,1800	18	0	1	0
chr11	5069945	5069945	T	C	exonic	OR52E1	.	unknown	UNKNOWN	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0056	0.0444	0.0208	0	0	0.0005	0	0	0.0010414	161	154602	rs115938846	0.0023	0.0011	0.0026	0.0020	0.0324	0.0021	0.0021	0.0290	0.0277	0.0324	0.0077	0.0010	0	0	0.0044	0.0010	0.0054	0.0022	0.0096	0.0097	0.0097	0.0095	0.0310	0.0092	0.0091	0.0295	0.0290	0.0310	0	0.0063	0.0003	0	0	0.0102	0.0008	0.0099	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2558.33	33	chr11	5069945	.	T	C	2558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=1204;ExcessHet=0;FS=2.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.392;SOR=0.777	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr11	5132456	5132456	T	C	exonic	OR52A5	.	nonsynonymous SNV	OR52A5:NM_001005160:exon2:c.A187G:p.I63V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00140927227268	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs759759899	3.42e-06	3.42e-06	4.084e-06	2.75e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.129	0.26852	T	0.061	0.45530	T	0.006	0.13644	B	0.023	0.19966	B	0.009136	0.30503	N	0.150048	1	0.08975	N	1.045	0.26769	L	7.21	0.00433	T	-0.66	0.19085	N	0.011	0.00110	-0.8952	0.48465	T	0.001	0.00318	T	10	0.04522434	0.03569	T	0.001409	0.02088	T	0.052	0.14661	0.559	0.67821	0.21279746466	0.20884	0.059204541532930414	0.05860	0.00769243951038	0.00681	0.202396050096	0.00529	T	0.003877	0.03282	T	-0.321909	0.06742	T	-0.68469	0.06702	T	0.0571766118894507	0.06717	T	0.594241	0.21993	T	0.049722224	0.08872	0.039622877	0.04098	0.049722224	0.08871	0.039622877	0.04098	-5.063	0.37516	T	.	.	0.083	0.09336	B	.;.	.;.	0.394711	0.07661	4.331	0.87058968326608577	0.16959	0.10521	0.16005	N	AEFBCI	0.092105	0.18650	N	-0.724733840939222	0.15328	0.7715163	-0.698533215589404	0.16997	0.9017927	0.997842150518811	0.36100	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	1.6	0.22686	-2.654000	0.00928	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.1326:0.0897:0.3231:0.4546	2.324	0.03960	861	0.33516	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1895.33	33	chr11	5132456	.	T	C	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.566;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.534;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	18	0	1	0
chr11	5226576	5226576	C	T	splicing	HBB	NM_000518:exon2:c.315+1G>A	.	.	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	1	1514	7	0	0	7	0.00230643	1.0000	0.948	YES	30477	Beta-thalassemia_HBB/LCRB|Erythrocytosis,_familial,_6|METHEMOGLOBINEMIA,_BETA_TYPE|Hb_SS_disease|Heinz_body_anemia|Hereditary_persistence_of_fetal_hemoglobin|Malaria,_susceptibility_to|Dominant_beta-thalassemia|not_specified|Beta_zero_thalassemia|not_provided|beta_Thalassemia	MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985|MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980|MedGen:C1840779,OMIM:617971|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848|MedGen:CN169374|MedGen:C0271980|MedGen:C3661900|MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.125e-05	0.0002	0	0	0	3.003e-05	0	6.057e-05	3.23e-05	5	154602	rs33945777	3.08e-05	3.078e-05	2.451e-05	3.714e-05	0.0010	2.348e-05	2.096e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0010	1.35e-05	0.0002	0.0001	4.601e-05	4.597e-05	5.138e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	7.893e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9103708	0.90401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409586	0.90459	D	0.63	0.97656	D	.	.	.	0.230677	0.03117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73458	P	.	.	5.304481	0.89052	29.8	0.99344039951916285	0.60291	0.96075	0.67419	D	AEFGBHCI	.	.	.	1.02008625056633	0.96331	14.56554	0.822344664021486	0.91300	10.81854	0.999999700040334	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.977528	0.81219	4.69	4.69	0.58546	5.658000	0.67673	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.517000	0.29406	0.0:1.0:0.0:0.0	15.933	0.79471	862	0.33134	Globin|Globin	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	134	chr11	5226576	.	C	T	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.644;DP=2693;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.063;SOR=0.618	GT:AD:DP:GQ:PL	0/0:176,0:176:99:0,120,1800	18	0	1	0
chr11	5269543	5269543	T	C	exonic	HBE1	.	nonsynonymous SNV	HBE1:NM_005330:exon2:c.A226G:p.I76V	.	.	.	.	.	.	.	.	.	.	.	3220465	HBE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.308	0.0453025237423	0.0015	0.00199681	0.0004	0.0041	0.0004	0	0	5.994e-05	0.0022	0	0.0004463	69	154602	rs79612490	0.0002	0.0002	0.0002	0.0001	0.0043	0.0001	0.0001	0.0037	0.0035	0.0043	0.0004	0	0	0	0.0005	3.507e-05	0.0004	1.159e-05	0.0014	0.0014	0.0014	0.0014	0.0048	0.0012	0.0012	0.0043	0.0041	0.0048	0	0.0005	0	0	0	0.0034	1.47e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.089251	0.20437	N	0.459175	1	0.81001	D	-1.1	0.00987	N	-3.12	0.92774	D	-0.16	0.09460	N	0.131	0.12627	-0.7710	0.56803	T	0.274	0.64587	T	10	0.0056583583	0.00126	T	0.045303	0.61916	D	0.308	0.62947	.	.	0.60872172215	0.60558	0.3397866420580117	0.33891	0.0336494134643	0.03534	0.290118932724	0.08940	T	0.006858	0.06286	T	-0.426697	0.01552	T	-0.384469	0.35199	T	0.00257390530533509	0.00027	T	0.842016	0.51794	T	0.08120844	0.18648	0.06093266	0.11685	0.08120844	0.18648	0.06093266	0.11685	-1.545	0.01859	T	.	.	0.060	0.01075	B	.;.;.	.;.;.	-0.374935	0.02308	0.244	0.665223651513557	0.08084	0.12168	0.17102	N	AEFBHCI	0.130500	0.24908	N	-1.66908372859729	0.00957	0.04147066	-1.61899305727375	0.01544	0.06995184	0.999999944778217	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.06	-7.73	0.01107	-0.837000	0.04485	.	.	-0.284000	0.06380	0.010000	0.18352	0.000000	0.08366	0.979000	0.57723	0.0:0.7053:0.0:0.2947	19.146	0.93455	834	0.38640	Globin|Globin;Globin|Globin;Globin|Globin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2810.33	35	chr11	5269543	.	T	C	2810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=891;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.18;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr11	5301945	5301945	A	G	exonic	OR51B4	.	startloss	OR51B4:NM_033179:exon1:c.T2C:p.M1?	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	.	0.0073	0.0061901	0.0026	0.0206	0.0011	0	0	0.0002	0.0013	0.0060	0.0023092	357	154602	rs113985785	0.0010	0.0010	0.0010	0.0010	0.0223	0.0010	0.0009	0.0210	0.0204	0.0223	0.0018	0	2.556e-05	0	0.0030	0.0001	0.0021	0.0049	0.0066	0.0066	0.0065	0.0066	0.0214	0.0063	0.0061	0.0202	0.0197	0.0214	0	0.0046	0	0	0	0	0.0001	0.0057	0.0052	0.001	0.78490	D	0.002	0.79402	D	0.948	0.53620	P	0.65	0.52463	P	0.002747	0.36001	N	0.130271	1	0.81001	D	.	.	.	9.85	0.00002	T	-0.98	0.25986	N	0.705	0.70878	0.513	0.90730	D	0.000	0.00039	T	9	0.009265542	0.00209	T	.	.	.	0.174	0.44019	.	.	0.384419519794	0.38055	0.2826597364945606	0.28178	.	.	.	.	.	0.00241	0.01807	T	-0.563692	0.00241	T	-0.565561	0.15858	T	0.0783418291289034	0.09774	T	0.9	0.65058	D	0.70559895	0.78364	0.5048777	0.71381	0.70559895	0.78366	0.5048777	0.71381	-7.83	0.59906	D	.	.	.	.	.	.	.	2.181826	0.27809	17.59	0.99066592529915898	0.51621	0.82543	0.41756	D	AEFBI	0.026063	0.01892	N	0.184109858644234	0.50437	3.233624	0.116001285247604	0.45367	2.801101	0.20268068041816	0.18143	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	2.568000	0.45628	.	.	0.715000	0.85334	0.907000	0.31601	0.007000	0.19602	0.009000	0.08673	0.9023:0.0:0.0977:0.0	7.930	0.29057	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	682.33	35	chr11	5301945	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.121;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,35:159:99:.:.:197,0,3192:.	5	0	9	5
chr11	5402811	5402811	C	T	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.C215T:p.A72V	.	429	1088	2	0	3	5	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00272841645741	.	.	0.0006	0	0	0	0	0.0003	0	0.0010	7.12e-05	11	154602	rs114782317	0.0002	0.0001	0.0001	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0	7.329e-05	0	0	0	0.0007	0.0001	6.921e-05	0.0009	6.564e-05	6.561e-05	5.138e-05	8.054e-05	0.0008	3.513e-05	2.614e-05	0.0003	0.0002	0	0	6.535e-05	0	0	0	0	7.349e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3833.33	39	chr11	5402811	.	C	T	3833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.723;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.502;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1169:.	18	0	1	0
chr11	5403008	5403008	T	C	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.T412C:p.Y138H	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00253781620546	.	0.000199681	0.0011	0	0	0	0	0	0	0.0023	0.0001423	22	154602	rs572777708	0.0006	0.0003	0.0005	0.0007	0.0129	0.0005	0.0005	0.0096	0.0084	0	0.0004	0	0	0	0.0129	0.0002	0.0006	0.0018	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	4.808e-05	0	0.0003	0	0	0	0.0102	0.0002	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3153.33	195	chr11	5403008	.	T	C	3153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.301;DP=2264;ExcessHet=0;FS=5.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.008;SOR=0.636	GT:AD:DP:GQ:PL	0/0:185,0:185:99:0,120,1800	18	0	1	0
chr11	5422907	5422907	G	A	exonic	OR51Q1	.	nonsynonymous SNV	OR51Q1:NM_001004757:exon1:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	3370764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0016574770183	0.0002	.	0.0003	0	8.639e-05	0	0.0015	0.0004	0	0	0.0003687	57	154602	rs141547549	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0001	0	0.0002	0.0012	0.0009	0.0003	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	7.222e-05	0	0.0003	0	0.0002	0.0016	0	0.0003	0	0	0.089	0.32141	T	0.191	0.28391	T	1.0	0.90584	D	0.999	0.92359	D	0.019593	0.27223	N	0.244803	0.999981	0.18198	N	1.85	0.49092	L	8.15	0.00286	T	-3.5	0.68178	D	0.157	0.16308	-0.8853	0.49332	T	0.002	0.00526	T	10	0.025961041	0.00775	T	0.001657	0.02728	T	0.132	0.35948	.	.	0.243398259712	0.23965	0.1627407421260048	0.16194	0.0116065001452	0.01090	0.243144780397	0.03081	T	0.011876	0.10530	T	-0.39751	0.02404	T	-0.480811	0.24361	T	0.109037866715275	0.13324	T	0.90161	0.65783	D	0.20688199	0.42877	0.15204774	0.35789	0.20688199	0.42877	0.15204774	0.35789	-4.414	0.29746	T	.	.	0.082	0.08851	B	.	.	2.137012	0.27209	17.38	0.9984443720308056	0.92489	0.21507	0.21426	N	AEFDGBHCI	0.104983	0.20989	N	-0.0626458537621814	0.39039	2.295909	-0.266194586486341	0.29220	1.635317	0.782755017465769	0.23874	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	1.839000	0.38861	.	.	0.385000	0.20450	0.013000	0.18845	0.000000	0.08366	0.017000	0.10941	0.1627:0.0:0.8373:0.0	10.251	0.42548	667	0.61242	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2759.33	142	chr11	5422907	.	G	A	2759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=2040;ExcessHet=0;FS=2.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=2.16;SOR=0.866	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	18	0	1	0
chr11	5440733	5440733	G	A	exonic	OR51I1	.	nonsynonymous SNV	OR51I1:NM_001005288:exon1:c.C782T:p.S261F	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0056	0.00519169	0.0016	0.0163	0.0005	0	0	5.997e-05	0.0033	0.0004	0.0014877	230	154602	rs61737027	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0006	0	0	0	0.0002	2.069e-05	0.0010	0.0004	0.0049	0.0049	0.0049	0.0050	0.0175	0.0046	0.0045	0.0164	0.0160	0.0175	0	0.0008	0	0	0	0.0034	1.47e-05	0.0033	0.0010	0.0	0.91255	D	0.141	0.33442	T	0.999	0.77913	D	0.998	0.88582	D	0.001112	0.40219	N	0.113088	0.66032	0.30455	N	1.555	0.39373	L	8.72	0.00098	T	-5.39	0.85027	D	0.225	0.25253	-0.7136	0.59776	T	0.001	0.00222	T	10	0.004553467	0.00094	T	.	.	.	0.147	0.38986	.	.	0.346085882481	0.34212	0.24759915096614962	0.24673	0.0110850897619	0.01030	0.293880045414	0.09492	T	0.009705	0.08820	T	-0.560484	0.00252	T	-0.562937	0.16103	T	0.0553529289853593	0.06416	T	0.865313	0.56401	D	0.6611537	0.75960	0.6930597	0.81933	0.6611537	0.75962	0.6930597	0.81934	-8.643	0.65372	D	.	.	0.515	0.65243	A	.	.	4.159961	0.62465	24.5	0.99797212163985238	0.88194	0.18773	0.20396	N	AEFGBHCI	0.074164	0.14857	N	0.399713973490191	0.61406	4.341359	0.34801675693454	0.58389	4.009034	0.936566312919239	0.27260	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.47	5.47	0.80345	1.564000	0.35983	.	.	0.650000	0.52971	0.008000	0.17931	0.834000	0.27239	0.205000	0.22041	0.081:0.0:0.919:0.0	12.485	0.55207	680	0.59965	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2386.33	37	chr11	5440733	.	G	A	2386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=837;ExcessHet=0;FS=1.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.015152	0.002717	0.020468	0.050000	0.017241	0.009146	0.000000	0.02632	1899.33	145	chr11	5454368	.	G	A	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.343;DP=941;ExcessHet=0;FS=5.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.134;SOR=0.37	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr11	5489271	5489271	C	T	exonic	OR52D1	.	stopgain	OR52D1:NM_001005163:exon1:c.C565T:p.R189X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.646e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768585133	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	8.52e-06	6.89e-06	2.988e-05	4.473e-05	0	0	0	0.0002	1.439e-05	1.656e-05	1.159e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000031	0.55875	D	0.000000	0.999992	0.81001	N	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283714	0.81631	D	0.266613	0.86407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.079769	0.96116	35	0.9861822501353259	0.43731	0.21333	0.21364	N	AEFDBHCI	0.119908	0.23382	N	-0.260125866471498	0.30700	1.714349	-0.54812931909246	0.20855	1.125565	0.999995861182813	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	2.59	0.30091	-0.789000	0.04714	.	.	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.869000	0.41347	0.2397:0.5801:0.1113:0.0689	6.320	0.20421	699	0.57969	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6687.81	218	chr11	5489271	.	C	T	6687.81	.	AC=2;AF=0.053;AN=38;DP=3220;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.03;SOR=1.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:191,0:191:99:.:.:0,120,1800:.	18	1	0	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N,UBQLN3:NM_017481:exon2:c.G1930A:p.D644N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1537.33	36	chr11	5507629	.	C	T	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.067;DP=787;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.205;SOR=0.565	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr11	5507962	5507962	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1597A:p.V533I,UBQLN3:NM_017481:exon2:c.G1597A:p.V533I	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.00219649	0.0010	0	0	0.0138	0	0	0	0	0.0009056	140	154602	rs2234454	0.0005	0.0005	0.0005	0.0004	0.0161	0.0004	0.0004	0.0151	0.0147	0	0	0	0.0161	0	0	6.295e-06	0.0003	0	0.0005	0.0005	0.0005	0.0005	0.0135	0.0004	0.0004	0.0110	0.0100	0	0	0	0	0.0135	0	0	1.47e-05	0.0005	0	0.303	0.14352	T	0.355	0.17217	T	0.0	0.02946	B	0.0	0.01387	B	0.701609	0.06206	N	1.187370	1	0.81001	D	0.06	0.08197	N	1.31	0.35405	T	-0.81	0.22294	N	0.022	0.00372	-0.9826	0.34398	T	0.013	0.05177	T	10	0.0061429143	0.00138	T	.	.	.	0.092	0.26621	.	.	0.176091768786	0.17195	0.2999963947431775	0.29912	0.0171003749232	0.01654	0.290654122829	0.09017	T	0.002845	0.02237	T	-0.697667	0.00038	T	-0.759332	0.03136	T	0.0279183450622305	0.01677	T	0.649435	0.26018	T	0.031264946	0.02936	0.036602594	0.03140	0.031264946	0.02936	0.036602594	0.03139	-2.727	0.07532	T	.	.	0.064	0.01738	B	.	.	0.055461	0.04680	1.325	0.7779994072647004	0.12028	0.08258	0.14210	N	AEFBCI	0.055820	0.10270	N	-1.63920999232456	0.01081	0.04693125	-1.57877402976976	0.01785	0.0812608	0.999999820254526	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.87	-8.34	0.00866	0.496000	0.22207	.	.	-1.580000	0.00921	0.993000	0.37899	0.915000	0.28207	0.241000	0.23027	0.0:0.5073:0.1142:0.3785	9.842	0.40170	682	0.59757	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1692.33	97	chr11	5507962	.	C	T	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.943;DP=1917;ExcessHet=0;FS=2.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.81;SOR=0.968	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr11	5515216	5515216	G	-	exonic	UBQLNL	.	frameshift deletion	UBQLNL:NM_145053:exon1:c.1226delC:p.T409Nfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2187.29	151	chr11	5515215	.	TG	T	2187.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=1680;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.422;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	5544844	5544844	G	A	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.C680T:p.A227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0035	0.00519169	0.0012	0.0129	0.0005	0	0	9.004e-05	0	0.0002	0.0011902	184	154602	rs114706438	0.0004	0.0004	0.0004	0.0004	0.0115	0.0004	0.0004	0.0106	0.0102	0.0115	0.0008	0	7.557e-05	0	0.0014	9.263e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0112	0.0125	0	0.0009	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.005	0.11217	B	0.945420	0.08325	N	0.974151	1	0.08975	N	-0.72	0.01791	N	.	.	.	.	.	.	.	.	-1.0582	0.12209	T	0.000	0.00039	T	10	0.0032142997	0.00055	T	.	.	.	0.021	0.04004	.	.	0.0716867268079	0.06686	0.12707670986741165	0.12633	0.016936993713	0.01637	0.172985255718	0.00045	T	2.99E-4	0.00073	T	-0.776256	0.00012	T	-0.876138	0.00687	T	0.00323111843291435	0.00034	T	0.553245	0.19112	T	0.027736206	0.02008	0.04623317	0.06399	0.027736206	0.02007	0.04623317	0.06398	-3.235	0.12914	T	.	.	0.079	0.07460	B	.;.	.;.	-0.976792	0.00804	0.027	0.42333162764988241	0.03113	0.02864	0.07632	N	AEFGI	0.059954	0.11360	N	-1.49395068059523	0.01892	0.08303365	-1.41110112113972	0.03140	0.1459046	0.0028984487729005	0.09781	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	1.37	0.21200	-0.998000	0.03812	.	.	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3033:0.1359:0.5607:0.0	5.357	0.15373	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3624.33	238	chr11	5544844	.	G	A	3624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.735;DP=3254;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=0.156;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0:186:99:.:.:0,120,1800:.	18	0	1	0
chr11	5544854	5544854	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G670A:p.V224I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0035	0.00519169	0.0012	0.0129	0.0004	0	0	9.005e-05	0	0.0002	0.0011837	183	154602	rs116559175	0.0004	0.0004	0.0004	0.0004	0.0115	0.0004	0.0004	0.0106	0.0102	0.0115	0.0008	0	7.557e-05	0	0.0014	9.263e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0113	0.0125	0	0.0008	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	0.001	0.07471	B	0.015	0.17295	B	0.287297	0.14834	N	0.623449	0.999971	0.18612	N	0.305	0.10234	N	.	.	.	.	.	.	.	.	-1.0345	0.19014	T	0.016	0.06664	T	10	0.0060061514	0.00135	T	.	.	.	0.010	0.01040	.	.	0.0611884634855	0.05136	0.12190030195196426	0.12117	0.0171711925401	0.01662	0.184940993786	0.00148	T	0.001	0.00865	T	-0.72011	0.00028	T	-0.795488	0.02017	T	0.00236271535413769	0.00024	T	0.686731	0.29555	T	0.06096948	0.12573	0.037267614	0.03343	0.06096948	0.12573	0.037267614	0.03342	-3.235	0.12914	T	.	.	0.070	0.03698	B	.;.	.;.	-0.273852	0.02733	0.363	0.67124997072851722	0.08261	0.02652	0.07260	N	AEFGI	0.068039	0.13403	N	-1.49901865907198	0.01857	0.08145481	-1.47131916230336	0.02582	0.1190151	0.00362918943852268	0.10207	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	-1.66	0.07824	-4.064000	0.00342	.	.	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.2217:0.3712:0.1128:0.2943	0.907	0.01206	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3533.33	238	chr11	5544854	.	C	T	3533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=3251;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.03;ReadPosRankSum=0.278;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0:186:99:.:.:0,120,1800:.	18	0	1	0
chr11	5545321	5545321	A	-	exonic	OR52H1	.	frameshift deletion	OR52H1:NM_001005289:exon1:c.203delT:p.F68Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00519169	0.0012	0.0128	0.0004	0	0	8.999e-05	0	0.0002	0.0009767	151	154602	rs374926660	0.0004	0.0004	0.0004	0.0004	0.0116	0.0004	0.0004	0.0106	0.0102	0.0116	0.0008	0	7.557e-05	0	0.0014	9.262e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0112	0.0125	0	0.0008	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2150.29	40	chr11	5545320	.	GA	G	2150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.13;SOR=0.755	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	5610851	5610851	G	C	exonic	TRIM6	.	nonsynonymous SNV	TRIM6:NM_001198645:exon6:c.G451C:p.V151L,TRIM6:NM_001198644:exon7:c.G451C:p.V151L,TRIM6:NM_001003818:exon8:c.G1060C:p.V354L,TRIM6:NM_058166:exon8:c.G976C:p.V326L	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00824819211141	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs781452684	5.472e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	3.311e-05	1.159e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.258	0.17761	T	0.687	0.12246	T	0.006	0.22331	B	0.006	0.16460	B	.	.	.	.	1	0.81001	D	1.485	0.37223	L	3.58	0.04594	T	-1.08	0.34397	N	0.052	0.14905	-1.0128	0.26038	T	0.015	0.05994	T	9	0.08109194	0.13237	T	0.008248	0.21853	T	0.067	0.19503	0.417	0.45709	0.218112801441	0.21410	0.22555637940004175	0.22470	0.0481309773018	0.05251	.	.	.	0.003226	0.02626	T	-0.212058	0.19090	T	-0.445529	0.28191	T	0.0391084738075733	0.03530	T	0.384162	0.20051	T	0.062701	0.13124	0.078280844	0.17519	0.062701	0.13124	0.078280844	0.17519	-6.172	0.53676	T	.	.	0.176	0.41992	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.634742	0.34271	19.58	0.99358226345388967	0.60904	0.87450	0.46994	D	AEFBI	0.284059	0.39701	N	-0.386980023923736	0.25932	1.411449	-0.315990118416791	0.27583	1.531527	0.963922957124604	0.28724	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.2	2.34	0.28071	1.405000	0.34243	.	.	0.618000	0.50648	0.171000	0.23947	1.000000	0.68203	0.932000	0.46971	0.1971:0.0:0.8029:0.0	8.278	0.31041	840	0.37365	B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3500.33	247	chr11	5610851	.	G	C	3500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=1989;ExcessHet=0;FS=4.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.199;SOR=0.602	GT:AD:DP:GQ:PL	0/0:155,0:155:99:0,120,1800	18	0	1	0
chr11	5633806	5633806	G	C	exonic	TRIM34;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM34:NM_130390:exon2:c.G426C:p.E142D,TRIM34:NM_001003827:exon3:c.G426C:p.E142D,TRIM34:NM_021616:exon3:c.G426C:p.E142D,TRIM6-TRIM34:NM_001003819:exon9:c.G1488C:p.E496D	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0054	0.0135783	0.0075	0.0182	0.0016	0.0002	0	0.0002	0.0045	0.0412	0.0065394	1011	154602	rs61758097	0.0030	0.0030	0.0019	0.0040	0.0380	0.0029	0.0029	0.0369	0.0365	0.0180	0.0015	0.0002	5.044e-05	0	0.0033	0.0001	0.0038	0.0380	0.0064	0.0064	0.0059	0.0070	0.0394	0.0061	0.0059	0.0348	0.0331	0.0173	0	0.0027	0.0003	0	0	0.0068	0.0002	0.0043	0.0394	0.093	0.31532	T	0.163	0.39954	T	0.002	0.09854	B	0.013	0.16460	B	0.630475	0.10692	N	0.754333	1	0.81001	D	2.24	0.63355	M	0.36	0.57880	T	-1.77	0.48687	N	0.24	0.27077	-0.9882	0.33052	T	0.071	0.28969	T	10	0.0021004677	0.00030	T	.	.	.	0.044	0.11924	0.365	0.37199	0.446813524615	0.44301	0.0780431514263225	0.08937	0.0658641321611	0.07348	0.26822167635	0.05911	T	0.022899	0.17573	T	-0.517296	0.00456	T	-0.487973	0.23603	T	0.0044925577068913	0.00048	T	0.136686	0.01080	T	0.08396233	0.19412	0.078291446	0.17522	0.08396233	0.19412	0.078291446	0.17522	-7.465	0.57364	T	.	.	0.140	0.34160	B	.;.;.	.;.;.	1.597462	0.20426	14.74	0.98229303666252832	0.39378	0.13487	0.17883	N	AEFBI	0.136607	0.25733	N	-0.656238327623255	0.17279	0.8877658	-0.674587838342011	0.17597	0.9364115	0.740767640202328	0.23208	0.651	0.46895	0	0.71359	0.82159	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.44	1.46	0.21769	-0.084000	0.11233	.	.	0.676000	0.76740	0.470000	0.26722	0.000000	0.08366	0.069000	0.16583	0.2018:0.1763:0.6219:0.0	4.921	0.13224	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004145	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2427.33	36	chr11	5633806	.	G	C	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.902;DP=770;ExcessHet=0;FS=1.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-0.246;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1331:.	18	0	1	0
chr11	5679822	5679822	C	T	exonic	TRIM5	.	nonsynonymous SNV	TRIM5:NM_033034:exon2:c.G356A:p.R119Q,TRIM5:NM_033092:exon2:c.G356A:p.R119Q,TRIM5:NM_033093:exon2:c.G356A:p.R119Q	.	417	1101	3	1	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00789858000007	0.0005	0.000399361	0.0010	0	0.0067	0	0	0.0005	0.0011	0.0001	0.0008409	130	154602	rs141805034	0.0004	0.0004	0.0005	0.0004	0.0042	0.0004	0.0004	0.0037	0.0035	0.0002	0.0042	3.834e-05	5.038e-05	0	0.0005	0.0004	0.0005	0.0001	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0	0.0005	0.0010	0	0.089	0.32141	T	0.318	0.26226	T	0.996	0.68779	D	0.826	0.59373	P	0.000167	0.48594	D	0.000000	1	0.08975	N	1.06	0.26948	L	1.02	0.40749	T	-3.23	0.71762	D	0.132	0.31814	-1.0399	0.17343	T	0.118	0.41582	T	10	0.010180026	0.00228	T	0.007899	0.20955	T	0.101	0.28911	.	.	0.642719681824	0.63976	0.45144758773202437	0.45062	0.342242573836	0.36158	0.247449249029	0.03503	T	0.029041	0.20900	T	-0.521761	0.00430	T	-0.521571	0.20136	T	0.0913536100896008	0.11378	T	0.742326	0.36163	T	0.2021104	0.42244	0.18727897	0.41951	0.2021104	0.42244	0.18727897	0.41950	-8.784	0.73996	D	.	.	0.254	0.51411	B	.;.;.;.	.;.;.;.	3.124649	0.42199	21.5	0.99867310749063709	0.94547	0.05626	0.11535	N	AEFDBI	0.085425	0.17316	N	0.029448495280691	0.43199	2.617454	0.00063044947733816	0.39745	2.361311	0.994273533351118	0.33564	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.07	4.07	0.46726	-1.000000	0.03804	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.944000	0.48669	0.0:0.8906:0.0:0.1094	7.928	0.29047	867	0.32089	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2064.33	122	chr11	5679822	.	C	T	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=1192;ExcessHet=0;FS=1.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.3;SOR=0.905	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1364	18	0	1	0
chr11	5709206	5709206	C	T	exonic	TRIM22	.	nonsynonymous SNV	TRIM22:NM_001199573:exon8:c.C1043T:p.S348L,TRIM22:NM_006074:exon8:c.C1055T:p.S352L	.	.	.	.	.	.	.	.	.	.	.	3336815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.419	0.204182312524	.	.	0.0002	0	0.0002	0	0	4.495e-05	0	0.0012	0.0001617	25	154602	rs775271050	0.0001	0.0001	8.712e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	8.961e-05	0.0001	3.826e-05	0	0	0	5.216e-05	0.0001	0.0012	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0006	2.111e-05	1.528e-05	0.0002	8.985e-05	2.416e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.979863	0.81001	N	4.075	0.97183	H	-0.33	0.68329	T	-5.53	0.86073	D	0.384	0.42541	-0.3141	0.74589	T	0.596	0.85600	D	9	0.45073974	0.58681	T	0.204182	0.86917	D	0.419	0.72855	0.863	0.95940	0.814538335153	0.81279	0.21191922693378581	0.21107	0.333238849342	0.35360	0.365360319614	0.20163	T	0.101935	0.40918	T	-0.28848	0.09790	T	-0.23271	0.51509	T	0.5104640644544	0.33015	D	0.972103	0.89869	D	0.3890343	0.59963	0.45098025	0.68053	0.3890343	0.59963	0.45098025	0.68054	-8.05	0.61410	D	.	.	0.144	0.31658	B	.	.	3.757347	0.53892	23.4	0.99861679034072603	0.94002	0.25726	0.22784	N	AEFBCI	0.127221	0.24449	N	0.374526526616569	0.60043	4.189314	0.13692416373438	0.46454	2.891043	0.85653998777022	0.25144	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.72	2.68	0.30839	0.540000	0.22900	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.2044:0.7955:0.0:0.0	9.893	0.40472	884	0.28482	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM22, PRY/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2332.33	38	chr11	5709206	.	C	T	2332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=863;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.8;SOR=0.585	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	5736889	5736889	C	G	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.C373G:p.L125V	.	428	1091	2	1	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00499201	0.0033	0	8.717e-05	0	0	2.999e-05	0.0022	0.0240	0.0028137	435	154602	rs199733222	0.0014	0.0014	0.0008	0.0020	0.0215	0.0013	0.0013	0.0207	0.0203	5.974e-05	2.239e-05	0	2.521e-05	5.617e-05	0.0007	4.137e-05	0.0020	0.0215	0.0007	0.0007	0.0003	0.0011	0.0210	0.0006	0.0006	0.0176	0.0164	0	0	0	0	0	9.423e-05	0	5.881e-05	0.0009	0.0210	0.257	0.16738	T	0.283	0.21478	T	0.034	0.20480	B	0.05	0.25278	B	0.001155	0.40056	U	0.000000	0.956305	0.26303	N	0.665	0.16292	N	8.16	0.00284	T	-1.45	0.35597	N	0.126	0.11912	-0.9990	0.30199	T	0.001	0.00222	T	10	0.0045159757	0.00093	T	.	.	.	0.086	0.25016	0.52	0.62217	0.136095386433	0.13204	0.06898596960187361	0.06836	.	.	0.176439806819	0.00066	T	0.010935	0.09820	T	-0.59529	0.00156	T	-0.610284	0.11962	T	0.0245600516056853	0.01216	T	0.623338	0.24021	T	0.103497215	0.24462	0.106915556	0.25730	0.103497215	0.24462	0.106915556	0.25729	-3.873	0.21898	T	.	.	0.159	0.35098	B	.	.	-0.059148	0.03892	0.852	0.96217124139692989	0.29075	0.07628	0.13636	N	AEFGBI	0.079121	0.15975	N	-0.551171561374211	0.20447	1.077941	-0.467672504592501	0.23049	1.255031	0.986517672045379	0.31077	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	4.02	0.45968	-2.068000	0.01470	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.7822:0.1411:0.0767	9.795	0.39894	823	0.40596	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	2434.33	190	chr11	5736889	.	C	G	2434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.093;DP=1915;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.506;SOR=0.796	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	18	0	1	0
chr11	5777665	5777665	C	T	exonic	OR52N5	.	nonsynonymous SNV	OR52N5:NM_001001922:exon1:c.G970A:p.G324S,OR52N5:NM_001385662:exon3:c.G970A:p.G324S	.	511	1010	1	0	0	1	0.000494805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0019	0.000998403	0.0005	0.0052	9.377e-05	0	0	0	0	0	0.0003946	61	154602	rs147305913	0.0001	0.0001	0.0002	0.0001	0.0059	0.0001	0.0001	0.0052	0.0049	0.0059	5.928e-05	0	0	0	0.0006	9.797e-07	0.0002	1.406e-05	0.0014	0.0015	0.0016	0.0012	0.0050	0.0013	0.0012	0.0044	0.0042	0.0050	0	0.0004	0	0	0	0	0	0.0027	0	0.399	0.10517	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	9.78	0.00004	T	0.53	0.02808	N	0.138	0.13626	-1.1785	0.00392	T	0.000	0.00039	T	9	0.008258641	0.00187	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.07434725365499091	0.07370	0.0649631059418	0.07257	0.266180694103	0.05649	T	0.001532	0.00977	T	-0.425643	0.01576	T	-0.729202	0.04363	T	0.00308808715877155	0.00032	T	0.407759	0.10493	T	0.026498744	0.01716	0.03813575	0.03616	0.026498744	0.01715	0.03813575	0.03616	-2.564	0.06235	T	.	.	0.078	0.06896	B	.;.	.;.	-0.883472	0.00954	0.037	0.61898360862486335	0.06825	0.00218	0.01233	N	AEFBI	0.013759	0.00194	N	-1.54406228503962	0.01569	0.06857768	-1.58561769260732	0.01743	0.07927051	4.45662311743646E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	-2.28	0.06438	-0.815000	0.04588	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1967:0.3727:0.0:0.4307	3.186	0.06206	732	0.54084	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	1627.13	.	chr11	5777665	.	C	T	1627.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.12;DP=705;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.219;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	16	0	1	2
chr11	5857002	5857002	G	A	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.C701T:p.P234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0249913115559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.005	0.72224	D	0.25	0.31189	B	0.25	0.39011	B	0.000035	0.55875	D	0.000000	0.999995	0.08975	N	3.08	0.87267	M	1.09	0.39223	T	-9.2	0.98244	D	0.36	0.40164	-0.7038	0.60256	T	0.227	0.59158	T	10	0.31116587	0.48588	T	0.024991	0.47973	T	0.154	0.40340	0.59	0.71874	0.423836183345	0.42003	0.1894805105847889	0.18866	0.00346480532179	0.00296	0.246515765786	0.03409	T	0.008579	0.07868	T	-0.11033	0.34715	T	-0.396258	0.33820	T	0.998695313930511	0.94887	D	0.841716	0.51747	T	0.44768956	0.63895	0.3375292	0.59542	0.44768956	0.63896	0.3375292	0.59541	-7.693	0.58959	D	.	.	0.169	0.37255	B	.	.	2.011221	0.25557	16.80	0.98817429823102287	0.46720	0.12457	0.17280	N	AEFI	0.113525	0.22396	N	-0.222007020201951	0.32231	1.815548	-0.346575090596424	0.26615	1.471265	1.39635024789786E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	3.47	0.38831	0.575000	0.23431	.	.	0.649000	0.52879	0.000000	0.06391	0.008000	0.19753	0.002000	0.04165	0.0:0.0:0.8316:0.1684	12.540	0.55508	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	503.33	34	chr11	5857002	.	G	A	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=776;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.384;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr11	5857288	5857288	T	C	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.A415G:p.T139A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00359425	0.0020	9.96e-05	0	0	0	0	0.0011	0.0145	0.0016817	260	154602	rs547108567	0.0008	0.0008	0.0004	0.0012	0.0125	0.0008	0.0007	0.0119	0.0117	0	0	0	2.519e-05	0	0.0002	5.396e-06	0.0012	0.0125	0.0005	0.0005	0.0002	0.0007	0.0143	0.0004	0.0003	0.0116	0.0106	2.555e-05	0	0	0	0	0	0	0	0	0.0143	0.07	0.35349	T	0.298	0.20486	T	0.016	0.17332	B	0.013	0.16460	B	0.152509	0.17920	N	0.506349	0.883924	0.35808	D	0.43	0.12624	N	2.16	0.19166	T	-2.22	0.49846	N	0.023	0.00407	-1.0157	0.25110	T	0.037	0.15856	T	10	0.0039965212	0.00077	T	.	.	.	0.047	0.12962	0.543	0.65589	0.115124310173	0.11017	0.07881351686523443	0.07816	0.0033011964445	0.00282	0.245883435011	0.03346	T	0.004556	0.03958	T	-0.623602	0.00104	T	-0.657507	0.08435	T	0.0170431293472675	0.00452	T	0.336666	0.07200	T	0.08978743	0.20991	0.095013835	0.22514	0.08978743	0.20990	0.095013835	0.22513	-3.913	0.22497	T	.	.	0.073	0.04806	B	.	.	2.707742	0.35383	19.88	0.97420925554893179	0.33875	0.03612	0.08845	N	AEFI	0.060840	0.11589	N	-0.769896815285989	0.14098	0.6996129	-0.755128710014527	0.15597	0.8210632	2.40147478461847E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	1.8	0.24069	-1.734000	0.01948	.	.	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3193:0.0:0.1652:0.5154	5.089	0.14035	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2161.33	34	chr11	5857288	.	T	C	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.503;DP=848;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.019;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr11	5857398	5857398	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G305A:p.G102D	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0003	0.00399361	0.0020	0	0.0003	0.0190	0.0015	0.0008	0.0044	0.0002	0.0018176	281	154602	rs143263598	0.0008	0.0008	0.0008	0.0008	0.0170	0.0008	0.0008	0.0160	0.0155	0	0.0004	0.0017	0.0170	0.0012	0.0007	0.0002	0.0013	0.0004	0.0011	0.0012	0.0011	0.0012	0.0192	0.0010	0.0009	0.0161	0.0150	0	0	0.0014	0.0020	0.0192	0.0011	0	0.0003	0.0014	0.0010	0.083	0.33091	T	0.044	0.49663	D	0.003	0.11197	B	0.005	0.11217	B	0.049972	0.23113	N	0.362111	0.999923	0.19486	N	1.935	0.51832	L	2.95	0.09635	T	-3.15	0.64132	D	0.336	0.37717	-1.0395	0.17465	T	0.015	0.05801	T	10	0.00841409	0.00191	T	.	.	.	0.125	0.34456	.	.	0.199424873507	0.19547	0.3340731362564264	0.33320	0.00247354185408	0.00212	0.190995126963	0.00243	T	0.008678	0.07952	T	-0.520509	0.00437	T	-0.504856	0.21846	T	0.0189130066481676	0.00601	T	0.633137	0.24745	T	0.16535392	0.36802	0.26504424	0.52332	0.16535392	0.36801	0.26504424	0.52331	-6.498	0.50271	T	.	.	0.130	0.27998	B	.	.	1.155056	0.15434	11.85	0.90702436527859531	0.19953	0.08177	0.14139	N	AEFI	0.095608	0.19314	N	-0.494573544296595	0.22259	1.187226	-0.482032122130509	0.22648	1.231221	5.60521394835325E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	3.29	0.36801	-0.445000	0.06918	.	.	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5416:0.3598:0.0985	6.496	0.21337	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1969.33	34	chr11	5857398	.	C	T	1969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=837;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.516;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr11	5986122	5986122	T	C	exonic	OR52L1	.	nonsynonymous SNV	OR52L1:NM_001005173:exon1:c.A809G:p.Y270C	.	.	.	.	.	.	.	.	.	.	.	2228888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.00474119017537	0.0004	0.000599042	0.0002	0.0011	0.0002	0	0	0.0002	0	6.057e-05	0.0002393	37	154602	rs201434641	0.0002	0.0002	0.0002	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0.0016	0.0006	0.0011	0	0	0.0023	6.026e-05	0.0004	2.319e-05	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0005	0.0020	0	0	0	0.0001	0	0	0.004	0.65419	D	0.003	0.76473	D	.	.	.	.	.	.	0.001296	0.39521	N	0.000000	0.663413	0.33074	D	.	.	.	0.99	0.41750	T	-8.85	0.97861	D	0.296	0.33469	0.137	0.84832	D	0.356	0.71842	T	10	0.08534023	0.14398	T	0.004741	0.11816	T	0.221	0.51721	.	.	0.737481597395	0.73513	0.38843061793413386	0.38758	0.276762445521	0.30141	0.295639932156	0.09752	T	.	.	.	-0.348148	0.04844	T	-0.329215	0.41556	T	0.158278480823127	0.17744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18950	B	.	.	3.458634	0.48198	22.6	0.99651131195366927	0.77317	0.55637	0.29914	D	AEFBI	0.276802	0.39146	N	0.314526592986992	0.56894	3.854924	0.0947498287927071	0.44283	2.713163	1.36653978891631E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	0.148000	0.16042	.	.	0.502000	0.22824	0.045000	0.21207	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.0:1.0	11.944	0.52201	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.005848	0.100000	0.000000	0.000000	0.000000	0.02632	2390.33	33	chr11	5986122	.	T	C	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=1157;ExcessHet=0;FS=4.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.93;SOR=0.425	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	10	0	9	0
chr11	6390623	6390623	C	A	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_000543:exon1:c.C25A:p.R9S,SMPD1:NM_001007593:exon1:c.C25A:p.R9S,SMPD1:NM_001318087:exon1:c.C25A:p.R9S,SMPD1:NM_001365135:exon1:c.C25A:p.R9S	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00355691324993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.07920	T	0.618	0.07493	T	.	.	.	.	.	.	0.927367	0.07514	N	1.044200	1	0.08975	N	0.345	0.11182	N	3.05	0.08721	T	-0.3	0.11913	N	0.071	0.04426	-0.9233	0.45098	T	0.008	0.02842	T	10	0.04510939	0.03544	T	0.003557	0.08123	T	0.009	0.00846	0.154	0.05752	0.117506650769	0.11410	0.4826699518479255	0.48186	0.236902228029	0.26229	0.289004445076	0.08777	T	0.28929	0.66208	T	-0.354886	0.04428	T	-0.747545	0.03582	T	0.0372036538900795	0.03191	T	0.312569	0.06116	T	0.108058155	0.25549	0.039625954	0.04098	0.108058155	0.25549	0.039625954	0.04098	-3.29	0.13608	T	.	.	0.106	0.25914	B	.;.	.;.	0.477849	0.08472	5.233	0.6138226907591452	0.06695	0.09497	0.15239	N	ALL	0.152674	0.27739	N	-1.55295374105895	0.01517	0.06626256	-1.59300366212282	0.01697	0.07713057	0.999999999965824	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.97	-5.95	0.02054	0.054000	0.14087	-0.960000	0.06783	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1595:0.3262:0.1557:0.3587	1.673	0.02646	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1175.33	39	chr11	6390623	.	C	A	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.935;DP=749;ExcessHet=0;FS=3.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.305;SOR=0.387	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1067	18	0	1	0
chr11	6390701	6390718	CTGGTGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001007593:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001318087:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001365135:exon1:c.103_120del:p.V36_L41del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	190279	SMPD1-related_disorder|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A|not_specified	.|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0001	0.0002	0.0004	0.0091	0.0018	0.0013	0.0003	0.0001537	4	26028	rs1488570078	0.0010	0.0010	0.0010	0.0011	0.0014	0.0010	0.0010	0.0008	0.0008	0.0003	0.0006	0.0004	0.0006	0.0075	0.0014	0.0009	0.0006	0.0004	0.0018	0.0017	0.0017	0.0019	0.0021	0.0016	0.0015	0.0018	0.0017	0.0002	0.0271	0.0007	0	0.0006	0.0079	0	0.0021	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4549.45	39	chr11	6390700	.	CCTGGTGCTGGCGCTGGCG	C	4549.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.621;DP=966;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.104;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1067:.	18	0	1	0
chr11	6390701	6390724	CTGGTGCTGGCGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001007593:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001318087:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001365135:exon1:c.103_126del:p.V36_L43del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	462081	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0022	0.0005	0.0016	0.0005	0.0004	0.0015	0	0.0080	0.0004226	11	26028	rs550067660	0.0013	0.0013	0.0011	0.0015	0.0071	0.0012	0.0012	0.0066	0.0065	0.0005	0.0014	0.0038	0.0004	0	0.0039	0.0008	0.0019	0.0071	0.0010	0.0009	0.0009	0.0010	0.0074	0.0008	0.0008	0.0053	0.0046	0.0002	0	0.0009	0.0039	0.0004	0	0.0078	0.0011	0.0005	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4549.45	39	chr11	6390700	.	CCTGGTGCTGGCGCTGGCGCTGGCG	C	4549.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.621;DP=966;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.104;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1067:.	18	0	1	0
chr11	6390706	6390717	GCTGGCGCTGGC	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001007593:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001318087:exon1:c.108_119del:p.A46_L49del,SMPD1:NM_001365135:exon1:c.108_119del:p.A46_L49del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	254228	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_specified|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1292325797	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0010	0.0009	0.0013	0.0002	3.875e-05	0	0	0.0009	0.0002	0.0003	3.511e-05	0.0005	0.0005	0.0004	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	T	48070.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:98:99:.:.:2928,2928,2928:.	18	0	1	0
chr11	6390705	6390717	TGCTGGCGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	*	48070.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:98:99:.:.:2928,2928,2928:.	16	0	3	0
chr11	6437081	6437081	G	A	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon7:c.C800T:p.T267M	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00445136923178	7.7e-05	0.000399361	0.0006	9.625e-05	8.64e-05	0.0001	0	0.0003	0.0011	0.0029	0.0005175	80	154602	rs180923845	0.0006	0.0006	0.0004	0.0007	0.0040	0.0005	0.0005	0.0028	0.0027	0	0.0003	0	2.519e-05	0	0.0040	0.0004	0.0007	0.0031	0.0004	0.0004	0.0004	0.0004	0.0048	0.0003	0.0003	0.0033	0.0028	4.812e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0014	0.0048	0.055	0.38407	T	0.085	0.41074	T	0.003	0.11197	B	0.001	0.04355	B	0.262427	0.03718	N	1.539910	1	0.08975	N	0.875	0.21512	L	0.32	0.58468	T	-3.39	0.66896	D	0.109	0.09490	-0.9834	0.34211	T	0.183	0.53118	T	10	0.009746462	0.00219	T	0.004451	0.10906	T	0.099	0.28413	.	.	0.252681307341	0.24864	0.4750191506890764	0.47420	0.244393863738	0.26944	0.253955602646	0.04196	T	0.21976	0.58286	T	-0.582485	0.00186	T	-0.612526	0.11781	T	0.00892574084697565	0.00111	T	0.549745	0.18930	T	0.045345016	0.07405	0.13261719	0.31820	0.045345016	0.07405	0.13261719	0.31819	-10.647	0.77687	D	.	.	0.074	0.05103	B	.	.	1.639102	0.20919	14.97	0.92898740946173697	0.22453	0.00097	0.00633	N	AEFBI	0.110487	0.21908	N	-1.10381763173796	0.06575	0.3030571	-1.08208074138626	0.08053	0.3943056	0.93575543691628	0.27226	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.25	1.65	0.23015	1.165000	0.31432	5.201000	0.47933	-0.666000	0.04332	0.001000	0.13787	0.409000	0.24749	0.803000	0.37862	0.651:0.0:0.349:0.0	7.634	0.27424	754	0.51307	Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	2428.33	33	chr11	6437081	.	G	A	2428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.352;SOR=0.722	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2442,0,2058	18	0	1	0
chr11	6437619	6437619	C	G	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon6:c.G524C:p.G175A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0058	0.00599042	0.0019	0.0215	0.0004	0	0	0	0.0011	6.083e-05	0.0018499	286	154602	rs138248087	0.0006	0.0006	0.0007	0.0005	0.0229	0.0006	0.0006	0.0216	0.0211	0.0229	0.0010	0	0	0	0.0010	1.079e-05	0.0012	3.478e-05	0.0060	0.0060	0.0059	0.0061	0.0215	0.0057	0.0056	0.0203	0.0198	0.0215	0	0.0008	0	0	0	0.0068	4.41e-05	0.0028	0.0002	0.056	0.38185	T	0.144	0.40747	T	0.088	0.25022	B	0.008	0.13708	B	0.418357	0.12904	N	0.758847	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	0.26	0.04380	N	0.191	0.20925	-1.0399	0.17343	T	0.020	0.08407	T	10	0.004314363	0.00087	T	.	.	.	0.019	0.03383	.	.	0.258283824007	0.25425	0.49236812024250354	0.49157	0.2404587666	0.26586	0.278572142124	0.07294	T	0.165587	0.51149	T	-0.688652	0.00043	T	-0.745057	0.03682	T	0.00124802136733373	0.00012	T	0.756024	0.37907	T	0.06920964	0.15142	0.07337503	0.15937	0.06920964	0.15142	0.07337503	0.15937	-4.777	0.34322	T	.	.	0.138	0.33755	B	.;.	.;.	-0.091540	0.03692	0.750	0.84607490525756601	0.15391	0.06633	0.12650	N	AEFDBI	0.292717	0.40352	N	-0.844285290614716	0.12190	0.5927313	-0.895956324885359	0.12189	0.6255686	0.996915015927855	0.35113	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	4.85	0.835	0.18020	0.231000	0.17651	-1.509000	0.05279	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.0:0.6095:0.0:0.3905	6.963	0.23787	754	0.51307	Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.010870	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1372.33	34	chr11	6437619	.	C	G	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=727;ExcessHet=0;FS=0.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.604;SOR=0.858	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1439	18	0	1	0
chr11	6456816	6456816	C	T	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248007:exon5:c.G553A:p.G185S,TRIM3:NM_001248006:exon6:c.G910A:p.G304S,TRIM3:NM_033278:exon6:c.G910A:p.G304S,TRIM3:NM_006458:exon7:c.G910A:p.G304S	.	423	1095	3	1	0	5	0.0022779	.	.	.	2376855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.345	0.0517787738851	.	.	8.552e-06	0	0	0	0	1.567e-05	0	0	6.5e-06	1	154602	rs780547892	1.164e-05	1.368e-05	1.09e-05	1.239e-05	0.0007	7.09e-06	5.8e-06	0.0002	0.0001	0	0	3.828e-05	0	0	0.0007	8.094e-06	4.968e-05	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.939e-05	0	0	0.142	0.25457	T	0.22	0.25907	T	0.287	0.32229	B	0.059	0.26602	B	0.000087	0.51296	D	0.201321	0.999999	0.58761	D	1.65	0.42232	L	-0.53	0.82806	T	-0.92	0.28290	N	0.688	0.71055	-0.2558	0.76202	T	0.429	0.77166	T	10	0.49949634	0.61464	T	0.051779	0.64800	D	0.345	0.66676	0.344	0.33788	0.833059519253	0.83146	0.857723841348539	0.85735	2.10380895774	0.94866	0.744227170944	0.73594	T	0.162491	0.50718	T	0.164662	0.70632	D	0.0685875	0.74817	D	0.608543245360344	0.36742	D	0.965003	0.87031	D	0.06841985	0.14904	0.08633769	0.19995	0.06841985	0.14904	0.08633769	0.19994	-3.717	0.19569	T	.	.	0.084	0.30502	B	.;.;.;.;.	.;.;.;.;.	3.329583	0.45828	22.2	0.99705600044060527	0.80936	0.99154	0.92024	D	AEFDBI	0.890672	0.82593	D	0.135628866011957	0.48131	3.02943	0.248539371044971	0.52566	3.430675	0.999999976936604	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.568000	0.81546	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:1.0:0.0:0.0	17.465	0.87523	732	0.54084	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1840.33	41	chr11	6456816	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=802;ExcessHet=0;FS=4.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.488;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chr11	6465676	6465676	C	T	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248006:exon2:c.G20A:p.S7N,TRIM3:NM_033278:exon2:c.G20A:p.S7N,TRIM3:NM_006458:exon3:c.G20A:p.S7N	.	.	.	.	.	.	.	.	.	.	.	2333233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0510013124813	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.94e-05	3	154602	rs760030045	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0003	1.584e-05	1.356e-05	6.101e-05	2.525e-05	2.987e-05	0	0	2.519e-05	0	0.0003	1.978e-05	9.934e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.076	0.34269	T	0.045	0.49390	D	0.608	0.39540	P	0.202	0.36942	B	0.000000	0.84330	D	0.046505	0.997608	0.81001	D	1.52	0.38360	L	-0.58	0.71425	T	-0.31	0.14193	N	0.354	0.39558	-0.7343	0.58745	T	0.252	0.62131	T	10	0.13463455	0.25622	T	0.051001	0.64480	D	0.125	0.34456	0.213	0.13210	0.395143234293	0.39128	0.2881058088068685	0.28723	0.959585307846	0.72951	0.563863396645	0.47812	T	0.146346	0.48391	T	-0.242974	0.14973	T	-0.417664	0.31343	T	0.140170032786381	0.16290	T	0.69953	0.31167	T	0.14651209	0.33536	0.17452511	0.39855	0.14651209	0.33536	0.17452511	0.39854	-6.363	0.49220	T	.	.	0.111	0.24226	B	.;.;.;.;.	.;.;.;.;.	3.408696	0.47274	22.4	0.98818076224964446	0.46736	0.96322	0.68572	D	AEFDBI	0.448582	0.50375	N	-0.0169767015215019	0.41088	2.451429	0.0584714121983124	0.42484	2.570354	0.99758056137403	0.35786	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.77	3.85	0.43556	0.908000	0.28167	6.006000	0.52567	0.537000	0.25018	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.3312:0.6688:0.0:0.0	11.267	0.48347	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2033.33	33	chr11	6465676	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=778;ExcessHet=0;FS=5.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.08;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	18	0	1	0
chr11	6498331	6498331	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon2:c.A116G:p.Q39R,DNHD1:NM_144666:exon3:c.A116G:p.Q39R	.	424	1089	8	1	0	10	0.00457038	.	.	.	713013	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0002	0.00399361	0.0020	0.0002	0.0022	0	0.0003	0.0008	0.0033	0.0093	0.0017982	278	154602	rs140872512	0.0014	0.0014	0.0012	0.0016	0.0076	0.0013	0.0013	0.0071	0.0069	0.0003	0.0027	0.0010	0	0.0003	0.0036	0.0010	0.0019	0.0076	0.0010	0.0010	0.0008	0.0011	0.0066	0.0008	0.0008	0.0048	0.0042	0.0002	0	0.0026	0.0003	0	0	0.0034	0.0009	0.0024	0.0066	0.538	0.09128	T	0.0	0.92824	D	0.004	0.12183	B	0.004	0.10090	B	0.015371	0.28265	N	0.251150	1	0.08975	N	1.04	0.26193	L	1.67	0.27331	T	-0.88	0.32185	N	0.105	0.20528	-1.0400	0.17313	T	0.034	0.14813	T	10	0.00371477	0.00069	T	.	.	.	0.043	0.11576	.	.	0.258283824007	0.25425	0.17349271139081857	0.17269	0.126673817958	0.14272	0.250474870205	0.03818	T	0.009248	0.08431	T	-0.609161	0.00128	T	-0.641538	0.09557	T	0.00466466240997347	0.00050	T	0.40366	0.10339	T	0.055514015	0.10798	0.062225383	0.12142	0.055514015	0.10797	0.062225383	0.12141	-3.246	0.13051	T	.	.	0.071	0.06896	B	.;.;.	.;.;.	0.635637	0.10040	6.792	0.97041448522657536	0.32113	0.14574	0.18475	N	AEFDBCIJ	0.038647	0.05500	N	-0.798425020604011	0.13352	0.6570904	-0.801763829627763	0.14453	0.755228	0.982952066627204	0.30481	0.632932	0.41330	0	0.577304	0.33150	0	0.601832	0.32385	0	0.491896	0.07777	0	.	.	5.18	2.85	0.32333	0.775000	0.26351	-0.267000	0.10379	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.8001:0.0:0.1999:0.0	6.125	0.19391	496	0.76301	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.05263	4449.83	203	chr11	6498331	.	A	G	4449.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=1123;ExcessHet=0.119;FS=0.785;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.98;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	17	0	2	0
chr11	6509068	6509068	G	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon4:c.G1109T:p.R370L,DNHD1:NM_144666:exon5:c.G1109T:p.R370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0129241937855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.53900	D	0.003	0.76473	D	0.9	0.49598	P	0.402	0.47859	B	0.196527	0.16709	N	0.523957	0.839009	0.28657	N	2.655	0.77738	M	2.33	0.16492	T	-2.33	0.80682	N	0.548	0.60410	-1.0491	0.14649	T	0.065	0.26948	T	10	0.3804476	0.54154	T	0.012924	0.31907	T	0.191	0.46948	0.689	0.82653	0.361558571881	0.35766	0.43025969444332973	0.42942	0.510397358846	0.49155	0.397441238165	0.24713	T	0.011268	0.10074	T	-0.108544	0.35008	T	-0.393693	0.34120	T	0.956512928009033	0.64776	D	0.673733	0.29630	T	0.094942905	0.22334	0.13419366	0.32161	0.094942905	0.22334	0.13419366	0.32160	-5.767	0.44286	T	.	.	0.295	0.57658	B	.;.;.	.;.;.	3.181240	0.43184	21.7	0.99483049708236448	0.67014	0.84154	0.43238	D	AEFBI	0.126628	0.24365	N	0.326888884052545	0.57533	3.920906	0.33405038214479	0.57551	3.921333	0.899001518229282	0.26040	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.508809	0.08732	0	.	.	5.47	4.54	0.55220	1.811000	0.38580	2.988000	0.35869	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0943:0.0:0.9057:0.0	10.713	0.45194	458	0.78890	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2376.33	40	chr11	6509068	.	G	T	2376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=892;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.1;SOR=0.775	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr11	6509171	6509171	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon5:c.G1134C:p.K378N,DNHD1:NM_144666:exon6:c.G1134C:p.K378N	.	432	1088	1	1	0	3	0.00137678	.	.	.	713017	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	7.7e-05	0.0071885	0.0047	0.0003	0.0408	0.0091	0	7.493e-05	0.0011	0.0004	0.0048318	747	154602	rs150652653	0.0016	0.0016	0.0018	0.0014	0.0394	0.0016	0.0015	0.0379	0.0372	0.0002	0.0394	0	0.0104	0	0.0002	1.978e-05	0.0018	0.0005	0.0027	0.0027	0.0024	0.0030	0.0227	0.0025	0.0024	0.0207	0.0199	0.0003	0	0.0227	0	0.0068	0	0	0.0001	0.0024	0.0004	0.057	0.37966	T	0.002	0.79402	D	0.986	0.61523	D	0.722	0.54942	P	0.115118	0.19248	N	0.509864	0.996881	0.22868	N	2.24	0.63355	M	2.57	0.13552	T	-2.63	0.56466	D	0.243	0.38950	-1.0586	0.12108	T	0.044	0.19029	T	10	0.004384488	0.00089	T	.	.	.	0.138	0.37187	0.448	0.50793	0.463672176093	0.45992	0.27803805338936416	0.27716	0.457418743426	0.45377	0.399064719677	0.24938	T	0.013108	0.11397	T	-0.627593	0.00099	T	-0.642854	0.09463	T	0.0506152871380425	0.05607	T	0.451355	0.13876	T	0.1668822	0.37051	0.1364063	0.32633	0.1668822	0.37051	0.1364063	0.32632	-4.69	0.33283	T	.	.	0.320	0.58173	B	.;.;.	.;.;.	3.490497	0.48788	22.7	0.99807025110152459	0.89085	0.61934	0.31630	D	AEFBI	0.045958	0.07577	N	0.276808464476461	0.54975	3.662031	0.210652852126682	0.50438	3.235812	0.0413010854288269	0.14478	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	5.49	4.57	0.55860	0.968000	0.28955	5.052000	0.47007	0.669000	0.69127	0.873000	0.30851	1.000000	0.68203	0.966000	0.53164	0.0931:0.1722:0.7348:0.0	7.225	0.25187	458	0.78890	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2107.33	40	chr11	6509171	.	G	C	2107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=887;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.395;SOR=0.88	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr11	6528587	6528587	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon11:c.G1903A:p.D635N	.	.	.	.	.	.	.	.	.	.	.	2333220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00589137538446	.	.	0.0002	0	0	0	0	0.0001	0	0.0003	2.59e-05	4	154602	rs551218756	2.358e-05	2.257e-05	2.256e-05	2.463e-05	0.0004	1.682e-05	1.48e-05	6.163e-05	2.548e-05	0	0	0	5.596e-05	0	0.0004	1.761e-05	0.0001	5.048e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.018	0.50676	D	0.002	0.79402	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999998	0.08975	N	0.55	0.14455	N	1.56	0.29602	T	-0.93	0.24898	N	0.124	0.17691	-0.9884	0.33002	T	0.036	0.15422	T	9	0.03688374	0.02010	T	0.005891	0.15340	T	0.014	0.01968	0.311	0.28451	0.203808441222	0.19973	0.15002867267085607	0.14924	0.114201077059	0.12879	0.373969167471	0.21399	T	0.005512	0.04962	T	-0.532397	0.00372	T	-0.798928	0.01929	T	0.0196146665475892	0.00664	T	0.453455	0.12891	T	0.05256064	0.09821	0.046551246	0.06513	0.05256064	0.09821	0.046551246	0.06512	-3.842	0.21433	T	.	.	0.099	0.16713	B	.;.	.;.	0.442645	0.08128	4.858	0.96207198042240472	0.29044	0.07017	0.13043	N	AEFBCI	0.029839	0.02891	N	-1.48997834601659	0.01920	0.08427622	-1.48428780841538	0.02473	0.1137875	0.0748348330364755	0.15678	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.47	-1.0	0.09675	-0.218000	0.09246	1.033000	0.23495	-0.820000	0.02968	0.009000	0.18154	0.291000	0.24165	0.146000	0.20164	0.316:0.0:0.4078:0.2762	3.508	0.07258	452	0.79239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1775.33	89	chr11	6528587	.	G	A	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.307;DP=1437;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.177;SOR=0.871	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	18	0	1	0
chr11	6544228	6544228	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon19:c.G3736A:p.A1246T	.	423	1093	6	0	0	6	0.00273723	.	.	.	724593	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	0.0114797969781	0.0028	0.00219649	0.0051	0.0010	0	0	0	0.0024	0	0.0096	0.001229	190	154602	rs186978440	0.0040	0.0039	0.0040	0.0041	0.0101	0.0040	0.0039	0.0095	0.0093	0.0006	0.0004	0.0029	2.798e-05	0.0006	0.0012	0.0042	0.0023	0.0101	0.0024	0.0024	0.0024	0.0023	0.0068	0.0022	0.0021	0.0050	0.0044	0.0009	0	0.0009	0.0026	0.0002	0.0005	0	0.0038	0.0009	0.0068	1.0	0.00964	T	0.065	0.44702	T	0.0	0.02946	B	0.006	0.12133	B	.	.	.	.	0.993171	0.23759	N	-1.01	0.01154	N	0.15	0.60734	T	1.22	0.01051	N	0.079	0.05414	-1.0125	0.26133	T	0.091	0.34901	T	9	0.005279094	0.00115	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.210429274316	0.20668	0.037799768222473155	0.03725	0.114439556271	0.12903	0.273092210293	0.06548	T	0.033322	0.22864	T	-0.613467	0.00121	T	-0.644584	0.09339	T	0.00320498266328223	0.00034	T	0.475952	0.14261	T	0.026946446	0.01819	0.06689118	0.13764	0.026946446	0.01819	0.06689118	0.13764	-3.495	0.16361	T	.	.	0.065	0.01960	B	.;.	.;.	0.712969	0.10821	7.500	0.92915229743231609	0.22475	0.11544	0.16704	N	AEFBI	0.025361	0.01725	N	-0.908481829039587	0.10642	0.5095624	-0.775321889933573	0.15101	0.7925385	6.22264173754198E-5	0.04366	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.09	0.28	0.14934	-0.003000	0.12836	0.819000	0.21831	-0.116000	0.14526	0.989000	0.36753	0.979000	0.30280	0.975000	0.56047	0.5813:0.0:0.4187:0.0	7.126	0.24649	467	0.78285	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	813.33	33	chr11	6544228	.	G	A	813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=730;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.815;SOR=0.82	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,118,1437	18	0	1	0
chr11	6546556	6546556	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C5617A:p.R1873S	.	.	.	.	.	.	.	.	.	.	.	818139	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0100174180859	.	0.00259585	0.0004	0.0042	0.0026	0	0	0	0	0	0.000207	32	154602	rs575635539	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0055	0.0052	0.0062	0.0004	0	0	0	0.0011	4.634e-06	0.0004	1.262e-05	0.0017	0.0017	0.0017	0.0018	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0004	0	0	0	0	2.941e-05	0.0024	0.0002	0.321	0.13522	T	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000885	0.41231	D	0.249826	0.96683	0.38555	D	2.085	0.57729	M	1.77	0.25841	T	-0.29	0.11728	N	0.54	0.56748	-1.0414	0.16890	T	0.104	0.38144	T	10	0.010085642	0.00226	T	0.010017	0.26057	T	0.139	0.37390	.	.	0.44770609447	0.44391	0.45003670393815504	0.44921	0.54139767128	0.51296	0.346514225006	0.17407	T	0.005288	0.04740	T	-0.32806	0.06259	T	-0.241677	0.50636	T	0.0309033203552553	0.02130	T	0.675632	0.28413	T	0.1385388	0.32037	0.09220038	0.21717	0.1385388	0.32037	0.09220038	0.21717	-3.764	0.20268	T	.	.	0.446	0.61993	A	.;.	.;.	3.008343	0.40220	21.1	0.99746910167431146	0.83927	0.86647	0.45972	D	AEFDBI	0.240997	0.36269	N	0.49155588314917	0.66594	4.970554	0.475135452408494	0.66345	4.94023	0.583733499170471	0.21591	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	4.96	4.96	0.65153	2.282000	0.43122	5.966000	0.51911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.8238:0.0:0.1762	7.345	0.25833	473	0.77910	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004246	0.005319	0.015957	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1699.33	33	chr11	6546556	.	C	A	1699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=792;ExcessHet=0;FS=5.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.806;SOR=0.834	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C	.	434	1071	15	2	0	19	0.00879223	.	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003529	0.005319	0.006667	0.000000	0.000000	0.000000	0.000000	0.011905	0.02632	610.33	36	chr11	6547636	.	C	T	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.405;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.296;SOR=0.547	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1095	18	0	1	0
chr11	6556911	6556911	A	G	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.A7616G:p.H2539R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0179663218908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	0.773936	0.29406	N	2.19	0.61577	M	1.32	0.35219	T	-3.74	0.71042	D	0.618	0.74553	-0.9700	0.37200	T	0.102	0.37718	T	9	0.9459691	0.93923	D	0.017966	0.39871	T	0.313	0.63482	0.799	0.91874	0.548654159409	0.54520	0.8350328121061054	0.83462	0.621443228783	0.56432	0.593486905098	0.51985	T	0.031875	0.22237	T	-0.0492669	0.44557	T	-0.308545	0.43815	T	0.936464071273804	0.60548	D	0.519848	0.16911	T	0.64319104	0.75001	0.62940764	0.78385	0.64319104	0.75003	0.62940764	0.78386	-8.248	0.62747	D	.	.	0.375	0.58156	A	.;.	.;.	3.422833	0.47532	22.5	0.99389165874062768	0.62247	0.92896	0.56812	D	AEFDGBI	0.291913	0.40292	N	0.32962207179311	0.57673	3.935715	0.336204328837747	0.57681	3.934745	0.999816346887028	0.43459	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.36	5.36	0.76624	4.699000	0.61482	11.179000	0.88243	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.269000	0.23743	0.847:0.0:0.0:0.153	9.841	0.40166	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1815.33	99	chr11	6556911	.	A	G	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.247;DP=1346;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.33;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	18	0	1	0
chr11	6557411	6557411	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C8116A:p.P2706T	.	322	1166	29	5	0	39	0.0164488	.	.	.	701888	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0035	0.00199681	0.0052	0.0010	0.0052	0	0.0109	0.0061	0.0053	0.0057	0.0016041	248	154602	rs192678564	0.0043	0.0042	0.0042	0.0044	0.0056	0.0042	0.0042	0.0052	0.0050	0.0008	0.0033	0.0089	0	0.0027	0.0053	0.0045	0.0039	0.0056	0.0033	0.0033	0.0035	0.0030	0.0050	0.0030	0.0030	0.0045	0.0043	0.0010	0	0.0033	0.0060	0	0.0019	0.0102	0.0049	0.0033	0.0050	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.748186	0.33898	D	1.975	0.53506	M	1.2	0.37405	T	-2.05	0.47008	N	0.139	0.14905	-0.8769	0.50005	T	0.083	0.32700	T	9	0.0074189305	0.00169	T	.	.	.	0.149	0.39377	.	.	0.471292358255	0.46759	0.1847132401032464	0.18389	0.56369228266	0.52792	0.417725682259	0.27524	T	0.007957	0.07329	T	-0.419871	0.01713	T	-0.374249	0.36393	T	0.0172735814394521	0.00468	T	0.458654	0.13238	T	0.1698434	0.37524	0.23968908	0.49325	0.1698434	0.37524	0.23968908	0.49324	-3.654	0.18641	T	.	.	0.230	0.46238	B	.;.	.;.	1.907854	0.24231	16.32	0.99451365453118268	0.65274	0.96239	0.68176	D	AEFDBI	0.183617	0.31094	N	0.325248348728929	0.57448	3.912109	0.360639371663606	0.59152	4.090616	0.999999994108912	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	1.685000	0.37277	1.784000	0.28742	0.599000	0.40250	0.541000	0.27275	0.453000	0.24963	0.208000	0.22126	0.0:1.0:0.0:0.0	17.652	0.88071	464	0.78488	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007888	0.000000	0.012963	0.000000	0.000000	0.000000	0.017123	0.013636	0.02632	1029.33	99	chr11	6557411	.	C	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.754;DP=1298;ExcessHet=0;FS=8.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.597;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	18	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,689:.	9	0	6	4
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.05263	3188.83	128	chr11	6571721	.	T	C	3188.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=886;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.908;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	17	0	2	0
chr11	6601432	6601432	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon3:c.C634G:p.P212A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00302570004962	.	.	3.328e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs757940157	4.105e-06	4.104e-06	6.807e-06	1.375e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	0	3.826e-05	5.038e-05	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.228	0.25286	T	0.0	0.02946	B	0.001	0.04355	B	0.944682	0.08329	N	0.972095	1	0.08975	N	1.355	0.33814	L	1.54	0.30133	T	-0.29	0.11728	N	0.201	0.22228	-1.0173	0.24592	T	0.061	0.25635	T	10	0.036837935	0.02003	T	0.003026	0.06487	T	0.025	0.05312	0.185	0.09388	0.187945064343	0.18414	0.14157296831866106	0.14080	0.0168008896403	0.01628	0.275844097137	0.06920	T	0.003229	0.02636	T	-0.453514	0.01077	T	-0.58035	0.14513	T	0.0244312223110807	0.01200	T	0.50435	0.15896	T	0.025789086	0.01557	0.022275995	0.00256	0.025789086	0.01556	0.022275995	0.00256	-3.307	0.13828	T	.	.	0.052	0.00207	B	.	.	0.083449	0.04887	1.474	0.48232481328269289	0.04008	0.20131	0.20926	N	AEFBCI	0.094398	0.19087	N	-1.17321206744653	0.05408	0.2464701	-1.20682214406593	0.05800	0.2773652	0.999679063865011	0.41644	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.55	-1.49	0.08259	-0.201000	0.09466	1.571000	0.27417	-0.227000	0.07798	0.000000	0.06391	0.761000	0.26624	0.002000	0.04165	0.1498:0.27:0.3299:0.2502	1.674	0.02648	489	0.76795	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1488.33	60	chr11	6601432	.	G	C	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.677;DP=933;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.221;SOR=0.543	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1305	18	0	1	0
chr11	6603474	6603474	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon1:c.C29G:p.A10G	.	434	1076	11	1	0	13	0.00600462	.	.	.	3316712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0106872314521	.	0.000199681	0.0007	0	0.0002	0.0005	0	0.0005	0	0.0018	0.0003169	49	154602	rs542041353	0.0003	0.0003	0.0002	0.0003	0.0030	0.0003	0.0003	0.0018	0.0014	0	0.0001	0	7.68e-05	0	0.0030	0.0002	0.0005	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	6.531e-05	0.0003	0	0	0	0.0003	0.0009	0.0008	0.1	0.43393	T	0.35	0.17478	T	0.543	0.37944	P	0.241	0.38645	B	0.698322	0.06187	N	1.158960	0.994763	0.23448	N	1.65	0.42232	L	1.43	0.32958	T	-0.27	0.30346	N	0.14	0.15328	-1.0117	0.26385	T	0.086	0.33438	T	10	0.018948495	0.00417	T	0.010687	0.27515	T	0.064	0.18567	.	.	0.668583955689	0.66578	0.06075885065073509	0.06015	0.0458377948792	0.04975	0.46630936861	0.34175	T	0.007719	0.07108	T	-0.521938	0.00429	T	-0.552583	0.17078	T	0.13447537203079	0.15789	T	0.782522	0.41827	T	0.079744875	0.18234	0.11065037	0.26682	0.079744875	0.18234	0.11065037	0.26681	-4.937	0.36148	T	.	.	0.082	0.08948	B	.;.	.;.	2.971349	0.39600	21.0	0.99126099819066571	0.53116	0.16453	0.19396	N	ALL	0.231452	0.35467	N	-0.126302573242742	0.36250	2.092785	-0.02664300404489	0.38515	2.270289	0.999999999999637	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.71	3.67	0.41236	1.187000	0.31699	5.312000	0.48266	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:0.3919:0.6081	7.982	0.29353	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.003788	0.02632	374.33	36	chr11	6603474	.	G	C	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.251;DP=698;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.857;SOR=1.021	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	18	0	1	0
chr11	6616033	6616033	G	C	exonic	TPP1	.	nonsynonymous SNV	TPP1:NM_000391:exon9:c.C1117G:p.Q373E	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	YES	141404	not_provided|Neuronal_ceroid_lipofuscinosis_2|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.201	.	0.0088	0.00678914	0.0025	0.0261	0.0013	0	0	0.0002	0	6.056e-05	0.0023156	358	154602	rs112812685	0.0008	0.0008	0.0010	0.0007	0.0274	0.0008	0.0008	0.0259	0.0254	0.0274	0.0019	3.826e-05	0	0	0.0012	8.543e-05	0.0022	4.637e-05	0.0075	0.0075	0.0077	0.0072	0.0258	0.0071	0.0069	0.0245	0.0240	0.0258	0	0.0024	0	0.0002	0	0	0.0002	0.0076	0	0.731	0.03799	T	0.793	0.04155	T	0.012	0.16265	B	0.039	0.23607	B	0.002079	0.37317	N	0.287070	0.997301	0.22713	N	0.84	0.21119	L	-3.16	0.92996	D	-0.62	0.20145	N	0.343	0.40164	-0.4317	0.71011	T	0.301	0.67195	T	10	0.0070130825	0.00160	T	.	.	.	0.201	0.48592	.	.	0.84571844758	0.84423	0.686070898848915	0.68547	0.206544020678	0.23080	0.35550686717	0.18730	T	0.261488	0.63298	T	-0.416057	0.01813	T	-0.350141	0.39189	T	0.00178748379606541	0.00018	T	0.840516	0.52967	T	0.12177822	0.28630	0.049348347	0.07522	0.10444599	0.24691	0.058982152	0.10991	-6.777	0.52388	T	0.1251852374538952	0.12404	0.091	0.13597	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.879955	0.23878	16.19	0.73115098429518366	0.10212	0.63529	0.32118	D	AEFBI	0.182760	0.31009	N	-0.348447875861179	0.27330	1.498554	-0.196630076343217	0.31659	1.793839	0.989071415143852	0.31715	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.56	0.792	0.17769	1.264000	0.32618	2.443000	0.32780	-0.154000	0.11915	0.987000	0.36337	1.000000	0.68203	0.993000	0.69303	0.0746:0.1105:0.3928:0.4221	4.755	0.12454	513	0.74941	Sedolisin domain|Sedolisin domain;.;Sedolisin domain|Sedolisin domain;.;Sedolisin domain|Sedolisin domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.009511	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	35	chr11	6616033	.	G	C	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=781;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.287;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	18	0	1	0
chr11	6622918	6622918	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8758A:p.V2920M	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	363808	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0038	0.00499201	0.0021	0.0190	0.0018	0	0	0.0002	0	0	0.0010414	161	154602	rs115534913	0.0005	0.0005	0.0005	0.0004	0.0130	0.0004	0.0004	0.0119	0.0115	0.0130	0.0004	0	0.0001	0	0.0078	0.0001	0.0008	0.0001	0.0035	0.0035	0.0036	0.0033	0.0122	0.0032	0.0031	0.0113	0.0110	0.0122	0	0.0007	0	0	0	0	1.47e-05	0.0038	0	0.005	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.921	0.65636	D	0.004360	0.33837	N	0.000000	0.996984	0.43549	D	3.245	0.89746	M	0.34	0.58176	T	-2.14	0.48523	N	0.293	0.33140	-0.3380	0.73902	T	0.225	0.58907	T	10	0.009411812	0.00212	T	.	.	.	0.319	0.64112	.	.	0.581500410241	0.57821	0.5741070317298129	0.57339	0.222531810099	0.24789	0.681091368198	0.64425	T	0.277434	0.65005	T	-0.453393	0.01078	T	-0.412368	0.31951	T	0.0461024537725776	0.04802	T	0.890111	0.62362	D	0.12821901	0.29983	0.13786626	0.32941	0.12821901	0.29983	0.13786626	0.32941	-8.264	0.62855	D	.	.	0.481	0.63698	A	.	.	3.823885	0.55226	23.6	0.99786527640437184	0.87308	0.51260	0.28854	D	AEFDBI	.	.	.	0.71086692962686	0.80347	7.273734	0.625963580699631	0.76832	6.564088	0.999959908361321	0.48110	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.62	4.62	0.56946	0.924000	0.28378	3.321000	0.37545	0.599000	0.40250	0.484000	0.26832	0.998000	0.33993	0.976000	0.56436	0.0:0.9074:0.0:0.0926	10.683	0.45022	534	0.73357	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004040	0.000000	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	967.33	71	chr11	6622918	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.949;DP=998;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.42;SOR=0.784	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr11	6623077	6623077	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8599A:p.A2867T	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	428	1076	18	0	0	18	0.00829493	.	.	.	1196080	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0057	0.00379393	0.0100	0.0028	0.0067	0	0.0016	0.0160	0.0061	0.0039	0.0046507	719	154602	rs146233988	0.0065	0.0065	0.0066	0.0065	0.0113	0.0064	0.0064	0.0091	0.0083	0.0011	0.0046	0.0212	2.593e-05	0.0008	0.0113	0.0071	0.0078	0.0030	0.0053	0.0053	0.0054	0.0051	0.0079	0.0050	0.0049	0.0070	0.0068	0.0013	0	0.0079	0.0210	0	0.0006	0.0034	0.0076	0.0080	0.0041	0.21	0.19639	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.001414	0.39109	N	0.000000	0.990491	0.24163	N	0.175	0.09039	N	0.23	0.59717	T	-1.3	0.32590	N	0.308	0.34767	-1.0651	0.10526	T	0.062	0.25672	T	10	0.011419386	0.00250	T	.	.	.	0.052	0.14661	.	.	0.272557281605	0.26857	0.3646127875677745	0.36375	0.183227035329	0.20612	0.364038228989	0.19972	T	0.089174	0.38315	T	-0.449616	0.01135	T	-0.412645	0.31922	T	0.00922406063220715	0.00117	T	0.712529	0.32403	T	0.047270615	0.08051	0.07459197	0.16333	0.047270615	0.08051	0.07459197	0.16332	-5.334	0.40278	T	.	.	0.071	0.04002	B	.	.	2.289612	0.29282	18.07	0.98327669376725069	0.40309	0.14302	0.18331	N	AEFDBI	.	.	.	-0.467978113883131	0.23135	1.240253	-0.287298167383484	0.28516	1.590583	0.999981505549986	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	1.372000	0.33866	4.064000	0.41610	0.599000	0.40250	0.011000	0.18532	1.000000	0.68203	0.993000	0.69303	0.0:0.826:0.0:0.174	7.380	0.26025	539	0.73055	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010585	0.020408	0.019022	0.008772	0.050000	0.008621	0.003049	0.000000	0.05263	2034.83	71	chr11	6623077	.	C	T	2034.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.27;DP=969;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.796;SOR=0.746	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	17	0	2	0
chr11	6627536	6627536	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon14:c.C5503T:p.L1835F	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	752837	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.00962485132644	0.0005	0.000199681	0.0008	0.0001	9.675e-05	0	0.0028	0.0011	0	0	0.0006533	101	154602	rs148791938	0.0008	0.0008	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0008	2.989e-05	6.725e-05	0.0018	0	0.0021	0.0002	0.0009	0.0007	0	0.0010	0.0010	0.0008	0.0012	0.0018	0.0009	0.0008	0.0015	0.0014	4.812e-05	0	6.533e-05	0.0020	0	0.0023	0	0.0018	0	0	0.09	0.31987	T	0.038	0.51421	D	0.989	0.62824	D	0.913	0.64886	D	0.020608	0.27003	N	0.177034	0.999893	0.50595	D	2.235	0.63160	M	0.5	0.55608	T	-2.41	0.52938	N	0.411	0.45142	-0.8304	0.53276	T	0.244	0.61213	T	10	0.026997656	0.00854	T	0.009625	0.25153	T	0.254	0.56428	.	.	0.469615867019	0.46589	0.12228668963693577	0.12155	0.42016348783	0.42545	0.367169201374	0.20424	T	0.256173	0.62705	T	-0.329979	0.06113	T	-0.245815	0.50229	T	0.044189572766639	0.04455	T	0.715028	0.32735	T	0.123993136	0.29103	0.1521864	0.35816	0.123993136	0.29102	0.1521864	0.35815	-9.2	0.68974	D	.	.	0.148	0.32804	B	.	.	4.838064	0.78954	27.0	0.99735491695492351	0.83119	0.97106	0.72724	D	AEFDGBI	0.769192	0.70452	D	0.621659986741926	0.74547	6.151175	0.648306320529378	0.78483	6.885735	0.999999999155847	0.74766	0.706548	0.73137	0	0.681609	0.65952	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	7.730000	0.83827	9.976000	0.82893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1507:0.8492:0.0	14.043	0.64208	261	0.89765	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1459.33	56	chr11	6627536	.	G	A	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.224;DP=941;ExcessHet=0;FS=3.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.295;SOR=0.394	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	18	0	1	0
chr11	6632964	6632964	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon6:c.C2548T:p.R850C	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	1187771	not_provided|Inborn_genetic_diseases|DCHS1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.177	0.0492234256531	0.0003	0.00179712	0.0012	0.0024	8.667e-05	0.0003	0	1.505e-05	0.0011	0.0069	0.0010479	162	154602	rs79559386	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	0.0027	6.708e-05	0	0	0	0.0010	1.619e-05	0.0007	0.0066	0.0009	0.0010	0.0008	0.0011	0.0079	0.0008	0.0008	0.0059	0.0052	0.0025	0	6.533e-05	0	0.0002	0	0	0	0.0009	0.0079	0.034	0.44029	D	0.044	0.49663	D	0.002	0.09854	B	0.001	0.04355	B	0.004185	0.34013	N	0.135740	0.991154	0.41320	D	2.825	0.82220	M	0.56	0.54540	T	-3.09	0.63438	D	0.294	0.33250	-0.6439	0.62979	T	0.237	0.60487	T	10	0.011422902	0.00250	T	0.049223	0.63719	D	0.177	0.44549	.	.	0.391520894214	0.38767	0.40940102527554945	0.40856	0.392951953292	0.40477	0.403489172459	0.25554	T	0.370323	0.73488	T	-0.474293	0.00799	T	-0.450759	0.27613	T	0.0661522035845533	0.08100	T	0.80392	0.45144	T	0.2043984	0.42548	0.15819551	0.36955	0.2043984	0.42548	0.15819551	0.36954	-9.492	0.70809	D	.	.	0.309	0.53671	B	.	.	3.805950	0.54866	23.5	0.94475344268276951	0.24927	0.96566	0.69781	D	AEFBI	0.406362	0.47888	N	-0.286009887344789	0.29688	1.648595	-0.270336427048827	0.29081	1.626442	0.901071023559853	0.26092	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	2.398000	0.44140	8.558000	0.77555	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.1608:0.0:0.8392:0.0	10.299	0.42823	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2298.33	49	chr11	6632964	.	G	A	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.589;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.195;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr11	6633485	6633485	C	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.G2382C:p.Q794H	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	427	1088	6	1	0	8	0.003663	.	.	.	431551	not_provided|Van_Maldergem_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0011070,MedGen:C4551950,OMIM:601390,Orphanet:314679|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	.	7.7e-05	0.00219649	0.0027	0	0.0029	0	0	6.493e-05	0	0.0099	0.0008409	130	154602	rs369091875	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	0	0	0.0002	0	0	0.0014	6.035e-05	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0	0	0.0002	0	0	0	0.0034	0.0001	0.0009	0.0064	0.058	0.37750	T	0.117	0.36365	T	0.992	0.64738	D	0.976	0.73562	D	0.000634	0.42799	D	0.000000	0.935408	0.37120	D	0.55	0.14455	N	1.13	0.38556	T	-2.93	0.61284	D	0.591	0.61087	-0.8920	0.48758	T	0.152	0.48032	T	10	0.011134207	0.00245	T	.	.	.	0.115	0.32236	0.481	0.56142	0.497697140016	0.49406	0.48284805263663944	0.48204	0.440242222381	0.44036	0.55001026392	0.45859	T	0.478799	0.80847	T	-0.469449	0.00857	T	-0.441275	0.28665	T	0.116636785214583	0.14097	T	0.843516	0.52087	T	0.32181272	0.54792	0.27944338	0.53912	0.32181272	0.54792	0.27944338	0.53911	-3.749	0.20044	T	.	.	0.225	0.45714	B	.	.	2.738643	0.35869	20.1	0.99255975317004197	0.57055	0.88362	0.48255	D	AEFBI	0.282400	0.39575	N	0.323767281497206	0.57371	3.904129	0.299219394258239	0.55495	3.712402	0.945413264443418	0.27659	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.84	2.97	0.33479	1.688000	0.37308	0.557000	0.19475	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.8225:0.0:0.1775	9.159	0.36168	231	0.90996	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	928.33	47	chr11	6633485	.	C	G	928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=752;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.52;SOR=0.512	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr11	6633550	6633550	T	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.A2317C:p.S773R	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00637290447137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	2.736e-06	1.379e-06	4.207e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.727e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.004	0.74150	D	0.0	0.02946	B	0.001	0.04355	B	0.065195	0.21899	N	0.388509	0.600237	0.30947	N	0.75	0.19020	N	0.73	0.50721	T	-1.54	0.37375	N	0.291	0.32921	-1.0202	0.23649	T	0.071	0.28969	T	10	0.11606255	0.21883	T	0.006373	0.16754	T	0.121	0.33580	0.513	0.61153	0.143184338766	0.13958	0.3658653595494536	0.36500	0.322906376399	0.34462	0.43632465601	0.30075	T	0.137501	0.47048	T	-0.117346	0.33559	T	-0.406336	0.32650	T	0.5878986120224	0.35924	D	0.680032	0.28847	T	0.28290436	0.51325	0.1584029	0.36993	0.28290436	0.51325	0.1584029	0.36992	-3.497	0.16389	T	.	.	0.179	0.38941	B	.	.	2.876999	0.38057	20.6	0.98116991345624571	0.38399	0.98077	0.79403	D	AEFDGBIJ	0.612606	0.60061	D	-0.231537252455909	0.31845	1.789863	-0.0091787975305978	0.39298	2.327984	0.999999991355948	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	5.527000	0.66837	1.998000	0.30109	0.665000	0.62972	1.000000	0.71638	0.994000	0.32194	0.987000	0.62547	0.0:0.0:0.0:1.0	12.577	0.55719	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1260.33	132	chr11	6633550	.	T	G	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=847;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.505;SOR=0.616	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr11	6640913	6640913	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon2:c.C701A:p.P234H	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3047080	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0374535305366	.	.	0.0001	0	0.0007	0.0002	0	1.499e-05	0	0.0002	9.06e-05	14	154602	rs149022037	3.557e-05	3.557e-05	3.539e-05	3.576e-05	0.0005	2.763e-05	2.501e-05	0.0003	0.0002	0	0.0003	0	0.0005	0	0	7.195e-06	0.0001	4.637e-05	4.595e-05	4.592e-05	2.568e-05	6.713e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	2.94e-05	0	0.0002	0.014	0.53172	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000300	0.46274	D	0.000000	1	0.08975	N	3.085	0.87354	M	0.42	0.56937	T	-4.95	0.81910	D	0.581	0.60241	-0.6747	0.61616	T	0.335	0.70190	T	10	0.6524482	0.69681	D	0.037454	0.57627	D	0.288	0.60691	0.557	0.67547	0.625953378006	0.62290	0.40478155930690163	0.40394	1.03631145464	0.75617	0.511655688286	0.40453	T	0.453009	0.79312	T	-0.308736	0.07859	T	-0.370736	0.36803	T	0.658119380474091	0.38813	D	0.90391	0.66280	D	0.26849183	0.49921	0.3535459	0.60914	0.26849183	0.49921	0.3535459	0.60913	-10.54	0.77077	D	.	.	0.446	0.62008	A	.	.	4.488748	0.70096	25.5	0.99315859052306765	0.59204	0.63345	0.32060	D	AEFBI	0.107892	0.21481	N	0.40225378578022	0.61548	4.357241	0.244721679764576	0.52349	3.410397	0.998718203792133	0.37518	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.71	3.72	0.41857	2.511000	0.45137	11.771000	0.95863	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.176000	0.21171	0.0:0.0:0.8381:0.1619	13.003	0.58090	210	0.91826	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2214.33	36	chr11	6640913	.	G	T	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=811;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.04;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	18	0	1	0
chr11	6768261	6768261	C	T	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.G697A:p.G233R	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00144634529571	0.0016	0.00159744	0.0016	0.0010	0.0014	0	0	0.0023	0.0033	0.0005	0.0016041	248	154602	rs143018775	0.0022	0.0022	0.0022	0.0022	0.0081	0.0021	0.0021	0.0063	0.0056	0.0004	0.0017	0.0015	0	0.0001	0.0081	0.0025	0.0026	0.0005	0.0019	0.0019	0.0020	0.0018	0.0057	0.0017	0.0017	0.0047	0.0044	0.0005	0	0.0057	0.0023	0	0	0.0204	0.0023	0.0043	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000084	0.51296	D	0.000000	1	0.08975	N	2.66	0.77858	M	8.25	0.00271	T	-7.04	0.93833	D	0.307	0.34659	-1.0040	0.28755	T	0.002	0.00526	T	10	0.010412455	0.00232	T	0.001446	0.02164	T	0.068	0.19811	0.584	0.71118	0.45553875121	0.45177	0.2119157015489632	0.21107	0.05690108089	0.06292	0.215650826693	0.01074	T	0.008477	0.07783	T	-0.530015	0.00384	T	-0.539964	0.18300	T	0.0602325163226866	0.07206	T	0.891311	0.62583	D	0.87381077	0.89166	0.76935583	0.86381	0.87381077	0.89167	0.76935583	0.86382	-9.395	0.70204	D	.	.	0.362	0.60630	A	.;.;.	.;.;.	3.953177	0.57923	23.9	0.9985118727065555	0.93013	0.08069	0.14042	N	AEFGBI	0.070082	0.13899	N	0.150399072860873	0.48831	3.090569	-0.0673493762495646	0.36749	2.142636	2.88814230646248E-4	0.06355	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.47	3.55	0.39770	-0.022000	0.12424	0.424000	0.18252	0.596000	0.33519	0.000000	0.06391	0.029000	0.21193	0.003000	0.05239	0.0:0.9061:0.0:0.0939	10.793	0.45648	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2740.33	229	chr11	6768261	.	C	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=2121;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.17;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	18	0	1	0
chr11	6845944	6845944	G	T	exonic	OR10A5	.	nonsynonymous SNV	OR10A5:NM_178168:exon1:c.G262T:p.A88S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0059	0.00459265	0.0015	0.0162	0.0005	0	0	8.992e-05	0	0	0.0014101	218	154602	rs113309084	0.0005	0.0005	0.0005	0.0004	0.0160	0.0005	0.0004	0.0149	0.0144	0.0160	0.0009	0	0	0	0.0023	3.417e-05	0.0011	8.115e-05	0.0042	0.0042	0.0044	0.0041	0.0145	0.0040	0.0039	0.0135	0.0131	0.0145	0	0.0018	0	0	0	0.0034	0.0001	0.0028	0	0.692	0.04277	T	0.683	0.06052	T	0.0	0.02946	B	0.001	0.04355	B	0.005275	0.32945	N	0.212287	1	0.08975	N	-1.57	0.00452	N	5.0	0.01319	T	0.61	0.02480	N	0.067	0.03956	-0.9109	0.46744	T	0.001	0.00255	T	10	0.003570646	0.00064	T	.	.	.	0.072	0.21020	.	.	0.124217242631	0.12060	0.09717321149309605	0.09648	0.0696468571568	0.07798	0.256300508976	0.04460	T	0.016762	0.13794	T	-0.794435	0.00008	T	-0.900954	0.00496	T	0.00982743274542932	0.00129	T	0.0069993	0.00030	T	0.04497482	0.07282	0.043201298	0.05321	0.04497482	0.07282	0.043201298	0.05321	-2.51	0.05850	T	.	.	0.068	0.02861	B	.	.	0.059729	0.04708	1.346	0.72729362696477473	0.10075	0.03426	0.08557	N	AEFGI	0.053241	0.09575	N	-1.01573095671332	0.08277	0.387519	-0.842934179354494	0.13458	0.6982218	9.97735922245092E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	2.5	0.29355	-2.347000	0.01175	-0.888000	0.07039	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.2515:0.0:0.7485:0.0	5.550	0.16374	523	0.74147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.005435	0.008876	0.000000	0.000000	0.000000	0.000000	0.02632	3621.33	38	chr11	6845944	.	G	T	3621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=983;ExcessHet=0;FS=0.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.02;MQRankSum=0.929;QD=15.22;ReadPosRankSum=0.026;SOR=0.747	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr11	6876908	6876908	C	G	exonic	OR10A4	.	nonsynonymous SNV	OR10A4:NM_207186:exon1:c.C261G:p.I87M	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00380090719506	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs548971943	7.935e-05	7.935e-05	6.534e-05	9.35e-05	0.0010	6.733e-05	6.267e-05	0.0005	0.0003	0	0	0	0	0	0.0010	5.396e-05	0.0001	0.0005	5.251e-05	5.249e-05	6.423e-05	4.027e-05	0.0006	2.555e-05	1.828e-05	0.0002	9e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0006	0.093	0.31532	T	0.127	0.35082	T	0.035	0.20614	B	0.027	0.21085	B	0.088535	0.20475	N	0.363076	0.999997	0.08975	N	0.325	0.10370	N	4.32	0.02387	T	0.61	0.02480	N	0.095	0.07535	-0.9461	0.41632	T	0.005	0.01761	T	10	0.02061972	0.00478	T	0.003801	0.08868	T	0.025	0.05312	0.354	0.35408	0.141422826196	0.13715	0.051021242013454135	0.05044	0.0176999657685	0.01731	0.358888506889	0.19224	T	0.033871	0.23092	T	-0.519858	0.00441	T	-0.673998	0.07354	T	0.0663506363441327	0.08129	T	0.0169983	0.00095	T	0.058571313	0.11798	0.04872002	0.07297	0.058571313	0.11798	0.04872002	0.07297	-4.996	0.36797	T	.	.	0.084	0.09723	B	.	.	0.024784	0.04457	1.178	0.40656127319225149	0.02883	0.00892	0.03507	N	AEFI	0.042933	0.06725	N	-1.53344817288909	0.01634	0.07143453	-1.54880935750902	0.01984	0.09063841	1.82612389854696E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.91	-2.01	0.07003	-2.666000	0.00919	-3.887000	0.02472	-1.921000	0.00507	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.5042:0.2206:0.1178:0.1574	2.337	0.03989	522	0.74218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	33	chr11	6876908	.	C	G	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.753;DP=748;ExcessHet=0;FS=1.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.25;SOR=0.548	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1170	18	0	1	0
chr11	6877558	6877558	G	A	exonic	OR10A4	.	nonsynonymous SNV	OR10A4:NM_207186:exon1:c.G911A:p.R304Q	.	437	1050	31	4	0	39	0.0182328	.	.	.	701948	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0019	0.00419329	0.0038	0.0004	0.0039	0.0002	0.0003	0.0028	0.0090	0.0130	0.0034799	538	154602	rs140094304	0.0032	0.0032	0.0028	0.0036	0.0133	0.0031	0.0031	0.0126	0.0124	0.0006	0.0030	0.0075	0.0034	0.0002	0.0115	0.0024	0.0046	0.0133	0.0023	0.0023	0.0022	0.0023	0.0141	0.0021	0.0020	0.0114	0.0104	0.0005	0	0.0013	0.0046	0.0014	9.422e-05	0.0102	0.0030	0.0028	0.0141	0.021	0.49117	D	0.028	0.54934	D	0.032	0.20242	B	0.048	0.24975	B	0.001120	0.40219	N	0.000000	0.999981	0.18198	N	2.18	0.61292	M	1.08	0.39401	T	-1.97	0.45587	N	0.211	0.23506	-0.9942	0.31512	T	0.073	0.29419	T	10	0.0038343966	0.00072	T	.	.	.	0.078	0.22779	.	.	0.549588557812	0.54614	0.19296126348470022	0.19214	0.0177326945437	0.01731	0.233257770538	0.02217	T	0.068145	0.33382	T	-0.500878	0.00565	T	-0.481222	0.24317	T	0.0305732570491084	0.02079	T	0.262774	0.04248	T	0.1980306	0.41691	0.16457327	0.38116	0.1980306	0.41691	0.16457327	0.38115	-7.314	0.56295	T	.	.	0.101	0.17360	B	.	.	2.456058	0.31631	18.80	0.99113194941154714	0.52776	0.02409	0.06817	N	AEFI	0.026738	0.02061	N	-0.542642696339605	0.20715	1.094059	-0.562350584301979	0.20478	1.103489	4.11080152104002E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.99	3.99	0.45527	-0.006000	0.12769	2.612000	0.33583	0.657000	0.54293	0.000000	0.06391	0.109000	0.22772	0.474000	0.28430	0.0:0.0:1.0:0.0	11.884	0.51869	522	0.74218	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009511	0.011696	0.000000	0.008621	0.009146	0.026515	0.02632	776.33	40	chr11	6877558	.	G	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.385;SOR=0.844	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1475	18	0	1	0
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.008152	0.008772	0.000000	0.025862	0.012195	0.007576	0.07895	8085.79	41	chr11	6892050	.	T	C	8085.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.734;DP=2158;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.305;SOR=0.674	GT:AD:DP:GQ:PL	0/0:202,0:202:99:0,120,1800	16	0	3	0
chr11	6955765	6955765	C	T	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.C74T:p.S25F,ZNF215:NM_001354859:exon5:c.C74T:p.S25F,ZNF215:NM_001354860:exon5:c.C74T:p.S25F,ZNF215:NM_001354854:exon6:c.C788T:p.S263F,ZNF215:NM_001354855:exon6:c.C110T:p.S37F,ZNF215:NM_001354856:exon6:c.C110T:p.S37F,ZNF215:NM_001354857:exon6:c.C110T:p.S37F,ZNF215:NM_001354853:exon7:c.C788T:p.S263F,ZNF215:NM_013250:exon7:c.C788T:p.S263F	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0279553	0.0119	0.0004	0.0003	0.1565	0.0006	0.0003	0.0044	0.0026	0.0109507	1693	154602	rs11041115	0.0048	0.0048	0.0049	0.0047	0.1491	0.0047	0.0046	0.1460	0.1447	0.0001	0.0003	0.0014	0.1491	0.0006	0.0007	0.0002	0.0086	0.0029	0.0062	0.0062	0.0052	0.0072	0.1634	0.0058	0.0057	0.1543	0.1506	0.0004	0	0.0010	0.0003	0.1634	0.0003	0	0.0002	0.0047	0.0070	0.286	0.38633	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	0.136976	0.18428	N	0.463445	1	0.08975	N	0.695	0.17993	N	3.35	0.05989	T	-0.69	0.32590	N	0.05	0.22357	-0.9175	0.45891	T	0.000	0.00039	T	10	0.0018633902	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.03491743562516489	0.03438	0.00575651831249	0.00504	0.232027292252	0.02122	T	0.007914	0.07283	T	-0.725418	0.00025	T	-0.670969	0.07546	T	0.00138073188106306	0.00014	T	0.553645	0.20674	T	0.039760243	0.05550	0.040393483	0.04356	0.039760243	0.05550	0.040393483	0.04355	-4.381	0.29298	T	.	.	0.451	0.62256	A	.;.;.;.	.;.;.;.	0.509864	0.08789	5.564	0.10812505544346344	0.00146	0.02209	0.06439	N	AEFBI	0.039586	0.05771	N	-1.41207240586321	0.02532	0.1119274	-1.42681103058321	0.02986	0.1384662	0.667322152396888	0.22336	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.45	0.484	0.16035	0.654000	0.24603	-0.308000	0.10061	-0.842000	0.02783	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3642:0.4312:0.0:0.2046	3.159	0.06124	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	2313.33	34	chr11	6955765	.	C	T	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.465;DP=1383;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=0.645;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,61:130:99:0|1:6955757_A_T:2327,0,2617:6955757	18	0	1	0
chr11	6955800	6955800	A	G	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.A109G:p.R37G,ZNF215:NM_001354859:exon5:c.A109G:p.R37G,ZNF215:NM_001354860:exon5:c.A109G:p.R37G,ZNF215:NM_001354855:exon6:c.A145G:p.R49G,ZNF215:NM_001354856:exon6:c.A145G:p.R49G,ZNF215:NM_001354857:exon6:c.A145G:p.R49G,ZNF215:NM_001354853:exon7:c.A823G:p.R275G,ZNF215:NM_013250:exon7:c.A823G:p.R275G	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00194349633968	0.0002	0.000199681	0.0005	9.856e-05	0.0003	0	0.0027	0.0005	0	0.0004	0.000414	64	154602	rs150103468	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	2.989e-05	0.0002	0	0	0.0025	0.0005	0.0001	0.0003	0.0007	0.0003	0.0003	0.0002	0.0005	0.0021	0.0003	0.0002	0.0011	0.0009	9.618e-05	0	0.0002	0	0	0.0020	0	0.0002	0	0.0021	0.494	0.07895	T	0.084	0.41239	T	0.002	0.09854	B	0.002	0.06944	B	0.080359	0.20929	N	0.410160	0.999999	0.22868	N	1.75	0.45442	L	3.32	0.06214	T	-2.04	0.46842	N	0.112	0.09914	-0.9449	0.41830	T	0.010	0.03582	T	10	0.0038570166	0.00073	T	0.001943	0.03456	T	0.021	0.04004	.	.	0.0954503805726	0.09146	0.0982422018143448	0.09755	0.005406421976	0.00476	0.235214784741	0.02376	T	0.017801	0.14461	T	-0.514085	0.00476	T	-0.624505	0.10834	T	0.0168284865909026	0.00437	T	0.614539	0.23442	T	0.09558753	0.22499	0.07421685	0.16211	0.09558753	0.22499	0.07421685	0.16211	-2.533	0.06011	T	.	.	0.416	0.60469	A	.;.	.;.	1.936610	0.24595	16.46	0.96223899831596471	0.29097	0.09148	0.14961	N	AEFDBI	0.071001	0.14116	N	-1.16252718273214	0.05576	0.2545868	-1.16673131906523	0.06473	0.3116789	0.701303357371062	0.22703	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	3.45	1.11	0.19640	0.127000	0.15617	0.551000	0.19421	-0.065000	0.16512	0.001000	0.13787	0.000000	0.08366	0.744000	0.35576	0.7778:0.0:0.2222:0.0	6.485	0.21281	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1781.33	34	chr11	6955800	.	A	G	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.555;DP=1344;ExcessHet=0;FS=2.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.214;SOR=0.608	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr11	6956103	6956103	A	G	exonic	ZNF215	.	nonsynonymous SNV	ZNF215:NM_001354858:exon5:c.A412G:p.M138V,ZNF215:NM_001354859:exon5:c.A412G:p.M138V,ZNF215:NM_001354860:exon5:c.A412G:p.M138V,ZNF215:NM_001354855:exon6:c.A448G:p.M150V,ZNF215:NM_001354856:exon6:c.A448G:p.M150V,ZNF215:NM_001354857:exon6:c.A448G:p.M150V,ZNF215:NM_001354853:exon7:c.A1126G:p.M376V,ZNF215:NM_013250:exon7:c.A1126G:p.M376V	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0003	0.00519169	0.0040	9.656e-05	8.661e-05	0.0237	0.0174	0.0016	0.0055	0.0033	0.0035446	548	154602	rs2239729	0.0026	0.0027	0.0026	0.0027	0.0346	0.0026	0.0026	0.0331	0.0325	0.0001	0.0002	3.83e-05	0.0346	0.0182	0.0005	0.0009	0.0027	0.0035	0.0029	0.0029	0.0021	0.0037	0.0245	0.0026	0.0025	0.0210	0.0197	0.0002	0	6.535e-05	0	0.0245	0.0184	0	0.0012	0.0014	0.0041	0.085	0.32769	T	0.115	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	0.350651	0.04243	N	1.448750	1	0.08975	N	-0.85	0.01485	N	2.53	0.14038	T	-0.39	0.13611	N	0.052	0.02366	-0.9705	0.37094	T	0.005	0.01725	T	10	0.0028256178	0.00045	T	.	.	.	0.098	0.28162	.	.	0.280987212366	0.27714	0.039911253394663275	0.03937	0.00586797181239	0.00512	0.231435328722	0.02076	T	0.017832	0.14480	T	-0.747826	0.00018	T	-0.828723	0.01285	T	0.00702114931139699	0.00080	T	0.327667	0.06803	T	0.077837504	0.17690	0.13477744	0.32287	0.077837504	0.17689	0.13477744	0.32286	-1.505	0.01774	T	.	.	0.117	0.23744	B	.;.	.;.	0.221590	0.06040	2.481	0.37945504598235441	0.02530	0.00201	0.01154	N	AEFBI	0.035628	0.04618	N	-1.42548560462882	0.02416	0.1066805	-1.41076278666316	0.03144	0.1460692	0.981728251604013	0.30302	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.67	-5.47	0.02396	1.856000	0.39028	-0.733000	0.07653	-0.598000	0.04625	0.217000	0.24502	0.000000	0.08366	0.485000	0.28678	0.2015:0.0:0.7985:0.0	16.724	0.85277	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	1869.33	34	chr11	6956103	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.474;SOR=0.685	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	7000143	7000143	G	A	exonic	ZNF214	.	nonsynonymous SNV	ZNF214:NM_001354832:exon3:c.C1540T:p.L514F,ZNF214:NM_001354833:exon3:c.C1498T:p.L500F,ZNF214:NM_013249:exon3:c.C1540T:p.L514F,ZNF214:NM_001354830:exon4:c.C1573T:p.L525F,ZNF214:NM_001354831:exon4:c.C1540T:p.L514F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0021	0.0145767	0.0185	0.0026	0.1870	0	0	0.0011	0.0011	0.0003	0.0173866	2688	154602	rs143981854	0.0062	0.0062	0.0071	0.0053	0.1599	0.0061	0.0061	0.1568	0.1555	0.0016	0.1599	0	2.52e-05	0	0.0002	0.0015	0.0039	0.0002	0.0094	0.0094	0.0082	0.0105	0.0795	0.0089	0.0088	0.0758	0.0743	0.0022	0	0.0795	0	0	0	0	0.0013	0.0114	0.0008	0.03	0.45393	D	0.705	0.05622	T	0.977	0.58535	D	0.796	0.58006	P	0.001113	0.40219	N	0.000000	0.993727	0.23659	N	1.34	0.33385	L	0.55	0.54728	T	-1.23	0.31170	N	0.044	0.01658	-1.1420	0.01285	T	0.015	0.06186	T	10	0.0015434623	0.00017	T	.	.	.	0.099	0.28413	.	.	.	.	0.028192323402939395	0.02769	0.182118499786	0.20472	0.472878575325	0.35075	T	0.003274	0.02677	T	-0.597841	0.00150	T	-0.487714	0.23630	T	0.0311852882325793	0.02175	T	0.150185	0.01264	T	0.12383201	0.29069	0.1112637	0.26837	0.12383201	0.29069	0.1112637	0.26836	-6.504	0.50317	T	.	.	0.392	0.59898	A	.;.	.;.	3.190740	0.43354	21.7	0.99593181939471376	0.73748	0.21658	0.21479	N	AEFBI	0.282900	0.39612	N	0.167717525912113	0.49653	3.163369	0.0904108378893597	0.44065	2.695508	0.991302073351833	0.32442	0.638212	0.43195	0	0.486142	0.07564	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.74	3.74	0.42108	-0.026000	0.12340	2.271000	0.31831	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.2152:0.7848:0.0	9.537	0.38394	809	0.43032	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1488.33	34	chr11	7000143	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=725;ExcessHet=0;FS=4.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.613;SOR=0.363	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	18	0	1	0
chr11	7038843	7038843	A	T	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon2:c.A257T:p.D86V	.	414	1102	6	0	0	6	0.00271493	.	.	.	967232	Spermatogenic_Failure	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.214	.	.	0.00359425	0.0019	0	8.697e-05	0.0001	0	1.511e-05	0.0022	0.0136	0.0016106	249	154602	rs199735773	0.0008	0.0008	0.0004	0.0013	0.0135	0.0008	0.0008	0.0129	0.0126	0	2.239e-05	0	0	0	0.0005	5.396e-06	0.0008	0.0135	0.0005	0.0005	0.0002	0.0009	0.0162	0.0004	0.0004	0.0133	0.0122	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0.0162	0.01	0.56456	D	0.007	0.69154	D	0.077	0.24313	B	0.166	0.35067	B	0.624348	0.10747	N	0.800601	0.962829	0.26050	N	2.4	0.69460	M	0.58	0.54149	T	-4.8	0.80682	D	0.478	0.51315	-0.8146	0.54269	T	0.145	0.46823	T	10	0.014527857	0.00305	T	.	.	.	0.214	0.50650	0.847	0.95025	0.473695954338	0.46998	0.49120252611449466	0.49041	0.0990005738812	0.11188	0.283036649227	0.07919	T	0.13774	0.47085	T	-0.321095	0.06809	T	-0.222976	0.52448	T	0.0908244387535409	0.11315	T	0.609739	0.23084	T	0.37028205	0.58606	0.2824636	0.54234	0.37028205	0.58606	0.2824636	0.54233	-6.95	0.53668	T	.	.	0.102	0.17995	B	.	.	2.456450	0.31638	18.80	0.97928934410400159	0.36942	0.04623	0.10286	N	AEFI	0.088502	0.17942	N	-1.04170025797449	0.07751	0.3611228	-1.21391304428005	0.05686	0.2716073	2.00643768064026E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	-4.67	0.03080	1.442000	0.34656	1.438000	0.26503	-0.050000	0.17177	0.002000	0.15269	0.003000	0.18671	0.254000	0.23365	0.2693:0.1568:0.4206:0.1533	2.302	0.03911	687	0.59234	DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1428.33	40	chr11	7038843	.	A	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=1000;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.671;SOR=0.583	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	7042561	7042561	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G535A:p.V179M	.	424	1067	27	4	0	35	0.0161365	.	.	.	2816418	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.559	.	0.0040	0.00259585	0.0051	9.714e-05	0.0016	0.0001	0.0024	0.0057	0.0044	0.0121	0.0047347	732	154602	rs149541731	0.0039	0.0039	0.0035	0.0042	0.0132	0.0038	0.0038	0.0110	0.0107	0.0007	0.0025	0.0411	2.519e-05	0.0015	0.0132	0.0026	0.0063	0.0116	0.0034	0.0034	0.0033	0.0035	0.0128	0.0032	0.0031	0.0103	0.0093	0.0006	0	0.0045	0.0369	0	0.0014	0.0068	0.0030	0.0047	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000725	0.42129	D	0.000000	0.804602	0.34557	D	3.205	0.89189	M	-1.72	0.83241	D	-2.77	0.58733	D	0.47	0.50598	0.322	0.87899	D	0.590	0.85316	D	10	0.014171183	0.00298	T	.	.	.	0.559	0.81888	.	.	0.802354826885	0.80051	0.2722668744954465	0.27139	0.149034713333	0.16805	0.448349237442	0.31719	T	0.385774	0.74709	T	-0.199575	0.20866	T	-0.0484216	0.67131	D	0.0438593696894781	0.04395	T	0.754025	0.37642	T	0.34251463	0.56479	0.36897784	0.62177	0.34251463	0.56479	0.36897784	0.62177	-6.375	0.49314	T	.	.	0.243	0.47752	B	.	.	3.590258	0.50659	23.0	0.99849493235859421	0.92925	0.92627	0.56158	D	AEFBI	0.263047	0.38066	N	0.238519058733931	0.53074	3.477999	0.0383602981176532	0.41513	2.495254	0.00209452125363833	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	2.35	0.28166	4.121000	0.57654	4.050000	0.41500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0949:0.1673:0.7378:0.0	7.601	0.27245	687	0.59234	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.010101	0.004076	0.008772	0.050000	0.043103	0.015244	0.007576	0.02632	1726.33	45	chr11	7042561	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=978;ExcessHet=0;FS=1.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.652;SOR=0.527	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr11	7043903	7043903	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1877A:p.R626Q	.	.	.	.	.	.	.	.	.	.	.	2358996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.00526153406226	.	0.000199681	8.248e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs569899906	5.473e-06	5.472e-06	1.361e-06	9.626e-06	4.637e-05	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	2.698e-06	1.656e-05	4.637e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.387	0.10945	T	0.693	0.05863	T	0.005	0.12996	B	0.002	0.06944	B	0.578988	0.05524	N	1.248380	1	0.08975	N	-0.275	0.03743	N	-2.43	0.88689	D	0.26	0.04380	N	0.051	0.02272	-0.7321	0.58857	T	0.367	0.72735	T	10	0.024626672	0.00684	T	0.005262	0.13433	T	0.206	0.49396	0.503	0.59615	0.254761474806	0.25079	0.043216040016202446	0.04266	0.0185626472875	0.01807	0.168932512403	0.00028	T	0.006453	0.05881	T	-0.341839	0.05261	T	-0.526151	0.19674	T	0.0232684411778802	0.01056	T	0.649435	0.26018	T	0.032591555	0.03314	0.037717603	0.03484	0.032591555	0.03313	0.037717603	0.03484	-3.229	0.12838	T	.	.	0.068	0.02670	B	.	.	-0.083566	0.03741	0.774	0.74842335963612583	0.10848	0.00217	0.01229	N	AEFBI	0.025586	0.01776	N	-1.55963184368347	0.01479	0.06456052	-1.56987203359994	0.01843	0.08395202	2.64768408959494E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-2.5	0.06015	-0.994000	0.03827	-0.976000	0.06729	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.4233:0.0:0.5767:0.0	9.46	0.37943	687	0.59234	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1790.33	45	chr11	7043903	.	G	A	1790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=983;ExcessHet=0;FS=4.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.239;SOR=1.059	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr11	7049677	7049677	A	C	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon6:c.A2130C:p.K710N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0187489766746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.013	0.63109	D	0.026	0.19406	B	0.015	0.17295	B	0.175133	0.17260	N	0.529794	1	0.08975	N	1.045	0.26769	L	-2.79	0.91019	D	-0.76	0.21215	N	0.121	0.11197	-0.7372	0.58596	T	0.425	0.76883	T	10	0.064536154	0.08574	T	0.018749	0.40914	T	0.119	0.33137	0.504	0.59770	0.447410926215	0.44366	0.1385490419450011	0.13777	0.0193230081328	0.01893	0.313244342804	0.12397	T	0.011399	0.10174	T	-0.149579	0.28376	T	-0.452637	0.27405	T	0.0388917818741685	0.03491	T	0.415458	0.10884	T	0.08445545	0.19549	0.05658427	0.10137	0.08445545	0.19549	0.05658427	0.10137	-3.576	0.17510	T	.	.	0.274	0.50772	B	.	.	0.415050	0.07859	4.557	0.9103324645388251	0.20283	0.06487	0.12497	N	AEI	0.071391	0.14210	N	-1.25349155569773	0.04254	0.1916275	-1.246114362059	0.05189	0.2466301	1.24350689809263E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.2	0.133	0.14066	-0.179000	0.09761	0.002000	0.13306	-0.210000	0.08370	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.5778:0.0:0.2686:0.1536	3.889	0.08615	686	0.59327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	965.33	39	chr11	7049677	.	A	C	965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=800;ExcessHet=0;FS=3.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.582;SOR=1.314	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	18	0	1	0
chr11	7062467	7062467	C	G	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon10:c.C2939G:p.A980G	.	416	1105	1	0	0	1	0.000452284	.	.	.	3358980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.00881367210708	.	0.000199681	0.0001	0	8.711e-05	0	0	0.0002	0	0	0.00011	17	154602	rs188314879	9.993e-05	9.987e-05	9.535e-05	0.0001	0.0005	8.651e-05	8.139e-05	0.0001	9.607e-05	0	0	0	0	0	0.0005	0.0001	0.0001	3.478e-05	9.207e-05	9.189e-05	7.721e-05	0.0001	0.0002	5.532e-05	4.368e-05	9.056e-05	7.018e-05	2.411e-05	0	6.556e-05	0	0	0	0	0.0002	0	0.0002	0.589	0.05826	T	0.148	0.32675	T	0.849	0.46879	P	0.46	0.46423	P	0.000834	0.41547	D	0.000000	0.874484	0.35627	D	0.965	0.23975	L	1.14	0.38397	T	-1.7	0.40468	N	0.374	0.41557	-1.0628	0.11069	T	0.067	0.27606	T	10	0.10906649	0.20331	T	0.008814	0.23245	T	0.114	0.32008	.	.	0.391313282164	0.38746	0.1417588497418468	0.14098	0.149086381227	0.16810	0.332425475121	0.15301	T	0.014591	0.12395	T	-0.317166	0.07132	T	-0.424063	0.30610	T	0.0660770578131878	0.08089	T	0.626737	0.24270	T	0.13448381	0.31243	0.14333488	0.34069	0.13448381	0.31243	0.14333488	0.34068	-5.399	0.40910	T	.	.	0.155	0.34272	B	.	.	3.078290	0.41403	21.3	0.98318212690532725	0.40212	0.47979	0.28104	N	AEFCI	0.104322	0.20876	N	0.0296451913063056	0.43206	2.618177	0.0751806091687704	0.43305	2.634978	0.00979519753529985	0.11915	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.84	4.84	0.62125	1.758000	0.38039	7.175000	0.57735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	13.625	0.61629	686	0.59327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1043.33	34	chr11	7062467	.	C	G	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.58;SOR=0.728	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	18	0	1	0
chr11	7565567	7565567	G	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001351853:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351854:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351855:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351856:exon3:c.G79A:p.A27T,PPFIBP2:NM_003621:exon3:c.G79A:p.A27T,PPFIBP2:NM_001351862:exon4:c.G79A:p.A27T	.	415	1106	1	0	0	1	0.000451875	.	.	.	2400217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00168023893645	.	0.000399361	2.471e-05	9.61e-05	0	0	0	2.997e-05	0	0	3.23e-05	5	154602	rs200278198	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0005	3.376e-05	3.065e-05	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0.0005	3.327e-05	6.623e-05	1.159e-05	4.595e-05	4.593e-05	3.854e-05	5.37e-05	9.62e-05	2.107e-05	1.526e-05	3.242e-05	1.91e-05	9.62e-05	0	0	0	0	0	0	1.47e-05	0.0009	0	0.19	0.36912	T	0.478	0.24477	T	0.001	0.07471	B	0.001	0.04355	B	0.006119	0.32266	N	0.212247	0.915471	0.27413	N	0.895	0.22405	L	2.33	0.16492	T	-1.41	0.34795	N	0.188	0.20528	-1.0459	0.15563	T	0.024	0.10103	T	10	0.042307287	0.02967	T	0.00168	0.02779	T	0.061	0.17616	.	.	0.342631996419	0.33872	0.33937888172755315	0.33850	0.027915624442	0.02864	0.330715894699	0.15043	T	0.016836	0.13838	T	-0.394266	0.02524	T	-0.622585	0.10983	T	0.237125486135483	0.22286	T	0.659534	0.26859	T	0.027199263	0.01878	0.051926326	0.08454	0.027199263	0.01878	0.051926326	0.08453	-3.93	0.22753	T	.	.	0.064	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.216576	0.16100	12.32	0.99029262827310027	0.50764	0.49038	0.28343	N	AEFBI	0.079602	0.16080	N	-0.324206939744701	0.28231	1.555441	-0.123994574769192	0.34426	1.980067	0.991798763235384	0.32611	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.49	4.58	0.56077	0.076000	0.14570	0.206000	0.15906	0.676000	0.76740	0.448000	0.26550	0.000000	0.08366	0.999000	0.91618	0.1715:0.0:0.8285:0.0	8.368	0.31561	828	0.39726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	713.33	41	chr11	7565567	.	G	A	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.597;DP=787;ExcessHet=0;FS=3.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.862;SOR=1.197	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1253	18	0	1	0
chr11	7565639	7565639	C	T	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001351853:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351854:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351855:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351856:exon3:c.C151T:p.L51F,PPFIBP2:NM_003621:exon3:c.C151T:p.L51F,PPFIBP2:NM_001351862:exon4:c.C151T:p.L51F	.	420	1101	1	0	0	1	0.000453926	.	.	.	3366288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.015028093553	.	0.000599042	7.413e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	7.76e-05	12	154602	rs201893667	7.73e-05	7.73e-05	6.942e-05	8.525e-05	0.0005	6.532e-05	6.136e-05	0.0004	0.0004	0.0004	4.472e-05	0	0	0	0.0005	3.777e-05	6.623e-05	0.0005	5.907e-05	5.905e-05	5.138e-05	6.71e-05	0.0004	3.074e-05	2.208e-05	7.287e-05	3.028e-05	9.618e-05	0	0	0	0	0	0	1.47e-05	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.000256	0.46924	D	0.000000	0.912	0.27488	N	2.545	0.74286	M	2.54	0.13916	T	-3.9	0.72932	D	0.561	0.58543	-1.1150	0.02673	T	0.084	0.32814	T	10	0.12440354	0.23627	T	0.015028	0.35522	T	0.267	0.58126	.	.	0.332133492242	0.32818	0.3922735903535336	0.39142	0.231657148612	0.25718	0.474914908409	0.35358	T	0.229473	0.59530	T	-0.303628	0.08322	T	-0.373593	0.36468	T	0.796588659286499	0.46123	D	0.869313	0.57326	D	0.14469805	0.33202	0.21437192	0.45985	0.14469805	0.33202	0.21437192	0.45984	-6.098	0.47092	T	.	.	0.178	0.38764	B	.;.;.;.;.	.;.;.;.;.	3.752651	0.53796	23.4	0.99893143084633651	0.96666	0.61625	0.31539	D	AEFBI	0.128569	0.24639	N	0.414719826639645	0.62230	4.435715	0.356847960906002	0.58921	4.065868	0.976656163557122	0.29745	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.49	3.58	0.40133	0.701000	0.25293	3.295000	0.37336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.3012:0.6988:0.0:0.0	12.620	0.55953	828	0.39726	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	886.33	41	chr11	7565639	.	C	T	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.328;DP=808;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.609;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1253	18	0	1	0
chr11	7630993	7630993	A	G	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A604G:p.T202A,PPFIBP2:NM_001256568:exon8:c.A697G:p.T233A,PPFIBP2:NM_001351857:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351858:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351859:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351860:exon9:c.A826G:p.T276A,PPFIBP2:NM_001351861:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351853:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351854:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351855:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351856:exon11:c.A1039G:p.T347A,PPFIBP2:NM_003621:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351862:exon12:c.A1033G:p.T345A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	7.7e-05	0.00259585	0.0009	0	8.654e-05	0.0001	0	0	0.0011	0.0063	0.0007956	123	154602	rs147867678	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0059	0	4.472e-05	0	0	0	0.0003	5.397e-06	0.0006	0.0066	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.503	0.11550	T	0.86	0.03409	T	0.0	0.02946	B	0.0	0.01387	B	0.327261	0.04109	N	1.404700	1	0.08975	N	0.145	0.08828	N	-0.32	0.68181	T	-0.67	0.19297	N	0.098	0.08227	-0.9936	0.31670	T	0.051	0.21728	T	10	0.0060495734	0.00136	T	.	.	.	0.073	0.21317	.	.	0.538561335957	0.53506	0.1451735567604721	0.14440	0.0279714721971	0.02869	0.322181761265	0.13752	T	0.006638	0.06067	T	-0.538301	0.00343	T	-0.541864	0.18113	T	0.00323089880443248	0.00034	T	0.628437	0.24942	T	0.017939249	0.00317	0.020961206	0.00165	0.017939249	0.00317	0.020961206	0.00165	-2.641	0.07120	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	-0.275780	0.02725	0.360	0.26378565490949096	0.01261	0.00547	0.02511	N	AEFBI	0.043224	0.06807	N	-1.15012711567626	0.05777	0.2642804	-1.28515461451502	0.04630	0.2188683	0.802211486884024	0.24206	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	-5.22	0.02592	-0.935000	0.04059	-0.488000	0.08877	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.237000	0.22922	0.4975:0.0975:0.3062:0.0988	4.28	0.10274	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1058.33	36	chr11	7630993	.	A	G	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=683;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.626;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1193:.	18	0	1	0
chr11	7631009	7631009	A	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A620C:p.E207A,PPFIBP2:NM_001256568:exon8:c.A713C:p.E238A,PPFIBP2:NM_001351857:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351858:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351859:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351860:exon9:c.A842C:p.E281A,PPFIBP2:NM_001351861:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351853:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351854:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351855:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351856:exon11:c.A1055C:p.E352A,PPFIBP2:NM_003621:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351862:exon12:c.A1049C:p.E350A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	7.7e-05	0.00299521	0.0009	9.632e-05	8.658e-05	0.0001	0	0	0.0011	0.0063	0.0008215	127	154602	rs141555648	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	4.472e-05	0	0	0	0.0003	1.8e-06	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.214e-05	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.19	0.33418	T	0.534	0.14912	T	0.172	0.28767	B	0.034	0.22546	B	0.037385	0.24408	N	0.428519	0.686163	0.34701	D	1.935	0.51832	L	-0.41	0.69413	T	-0.97	0.25770	N	0.238	0.30800	-0.9008	0.47910	T	0.116	0.41120	T	10	0.0065229535	0.00148	T	.	.	.	0.256	0.56694	.	.	0.767332750182	0.76520	0.1872317281989996	0.18641	0.0535589195105	0.05910	0.362885415554	0.19805	T	0.006931	0.06354	T	-0.318942	0.06985	T	-0.226909	0.52069	T	0.0206220379021904	0.00762	T	0.813219	0.48193	T	0.05501827	0.10634	0.041320316	0.04671	0.05501827	0.10634	0.041320316	0.04670	-3.905	0.22377	T	.	.	0.086	0.16538	B	.;.;.;.	.;.;.;.	3.442841	0.47899	22.5	0.98058304436914734	0.37929	0.72268	0.35379	D	AEFBI	0.166364	0.29294	N	0.078326342974546	0.45453	2.801566	0.168502882648835	0.48130	3.033205	0.868863035036288	0.25374	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.05	0.67566	1.937000	0.39821	7.945000	0.75661	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.8826:0.0:0.1174:0.0	7.775	0.28199	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1014.33	36	chr11	7631009	.	A	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.492;DP=676;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.85;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1193:.	18	0	1	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	39	chr11	7691973	.	A	G	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.042;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr11	7796270	7796270	G	A	exonic	OR5P2	.	nonsynonymous SNV	OR5P2:NM_153444:exon1:c.C673T:p.R225C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0217449924596	7.8e-05	.	6.638e-05	0	8.664e-05	0.0005	0	4.5e-05	0	0	5.17e-05	8	154602	rs374622867	5.765e-05	5.753e-05	6.419e-05	5.104e-05	0.0014	4.758e-05	4.38e-05	0.0011	0.0010	0	0.0002	0	0.0014	0	0	1.441e-05	1.662e-05	4.668e-05	3.39e-05	4.675e-05	5.294e-05	1.39e-05	0.0002	1.291e-05	8.2e-06	8.82e-06	3.3e-06	5.323e-05	0	0	0	0.0002	0	0	2.949e-05	0	0	0.032	0.44694	D	0.04	0.50809	D	0.114	0.26387	B	0.117	0.32014	B	0.506500	0.05122	N	1.249150	0.620146	0.30787	N	1.625	0.41611	L	1.04	0.40218	T	-3.66	0.70067	D	0.187	0.20395	-0.8714	0.50424	T	0.119	0.41735	T	10	0.12635228	0.24020	T	0.021745	0.44560	T	0.079	0.23065	.	.	0.617576649361	0.61448	0.21438703762271402	0.21354	0.0055018748095	0.00483	0.187576532364	0.00185	T	0.021738	0.16878	T	-0.387184	0.02805	T	-0.493615	0.23012	T	0.140343442444759	0.16305	T	.	.	.	0.17196234	0.37861	0.1451537	0.34437	0.17196234	0.37860	0.1451537	0.34436	-5.434	0.41245	T	.	.	0.100	0.17232	B	.	.	2.002234	0.25439	16.76	0.99128064859057974	0.53169	0.08047	0.14022	N	AEFBI	0.067188	0.13197	N	-0.486889173605448	0.22510	1.202431	-0.471085720878328	0.22955	1.249379	1.7537747560878E-6	0.01202	0.500041	0.20204	0	0.624306	0.53593	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	-0.15	0.12759	-0.164000	0.09972	-2.653000	0.03504	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.688000	0.33778	0.0744:0.0:0.4262:0.4993	8.730	0.33652	753	0.51500	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1701.33	33	chr11	7796270	.	G	A	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1354;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=2.58;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr11	7927779	7927779	C	T	exonic	OR10A6	.	nonsynonymous SNV	OR10A6:NM_001004461:exon1:c.G884A:p.S295N	.	.	.	.	.	.	.	.	.	.	.	2370547	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00583143946291	0.0010	0.000199681	0.0006	9.614e-05	0.0003	0	0.0006	0.0010	0	6.058e-05	0.0006986	108	154602	rs138423664	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0004	0	0	0.0007	0	0.0018	0.0012	1.16e-05	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0005	0	0	0.0005	0	0.0015	0.0005	0	.	.	.	.	.	.	0.003	0.11197	B	0.004	0.10090	B	0.002981	0.35639	N	0.123758	1	0.08975	N	-0.025	0.05070	N	.	.	.	.	.	.	.	.	-1.0664	0.10223	T	0.038	0.16333	T	10	0.0076756477	0.00174	T	0.005831	0.15161	T	.	.	.	.	.	.	0.07380859964195861	0.07317	.	.	0.189516663551	0.00216	T	4.36E-4	0.00146	T	-0.693432	0.00040	T	-0.765118	0.02932	T	0.00254364982875167	0.00026	T	.	.	.	0.04416177	0.07010	0.08708902	0.20219	0.04416177	0.07010	0.08708902	0.20219	-3.167	0.12082	T	.	.	0.090	0.13644	B	.;.;.	.;.;.	0.553415	0.09222	6.002	0.72832358702244626	0.10111	0.15899	0.19135	N	AEFDBHCIJ	0.033116	0.03868	N	-1.26197237966436	0.04144	0.1864641	-1.22527308832479	0.05506	0.2625442	0.877349312454729	0.25544	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.43	-2.78	0.05512	0.657000	0.24647	-1.545000	0.05202	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.0:0.367:0.1334:0.4996	6.218	0.19880	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1290.33	35	chr11	7927779	.	C	T	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.456;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.134;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	7938764	7938764	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G757A:p.G253S	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0041579155283	0.0018	0.000599042	0.0020	0.0004	0.0012	0	0	0.0029	0.0033	0.0015	0.0018758	290	154602	rs146467002	0.0021	0.0021	0.0021	0.0020	0.0026	0.0020	0.0020	0.0020	0.0020	0.0004	0.0016	0.0115	0	0.0004	0.0026	0.0021	0.0024	0.0018	0.0017	0.0017	0.0016	0.0017	0.0022	0.0015	0.0014	0.0019	0.0018	0.0004	0	0.0020	0.0132	0	0	0	0.0022	0.0014	0.0019	0.084	0.32929	T	0.067	0.44302	T	0.911	0.50336	P	0.6	0.50752	P	0.000833	0.41547	U	0.000000	0.994676	0.23467	N	1.575	0.39704	L	1.14	0.38397	T	-4.75	0.80256	D	0.266	0.30118	-0.9849	0.33856	T	0.119	0.41648	T	10	0.010415167	0.00232	T	0.004158	0.09995	T	0.158	0.41098	.	.	0.503374072614	0.49975	0.16378177724729304	0.16298	0.037006608582	0.03923	0.348554730415	0.17710	T	0.018675	0.15012	T	-0.428311	0.01517	T	-0.393564	0.34135	T	0.0345433062293743	0.02730	T	.	.	.	0.30084637	0.52981	0.3623418	0.61641	0.30084637	0.52981	0.3623418	0.61641	-6.25	0.48325	T	.	.	0.123	0.26294	B	.;.	.;.	3.647009	0.51738	23.1	0.99732202545928039	0.82833	0.23058	0.21952	N	AEFBI	0.184090	0.31141	N	0.194996121171081	0.50958	3.28109	0.16720067293782	0.48060	3.027184	2.07294232545529E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	1.709000	0.37528	4.440000	0.43382	0.591000	0.32079	0.126000	0.23278	0.997000	0.33255	0.896000	0.43308	0.0:1.0:0.0:0.0	15.619	0.76536	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.012195	0.007576	0.02632	2197.33	48	chr11	7938764	.	C	T	2197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.268;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	7961127	7961127	G	A	exonic	NLRP10	.	nonsynonymous SNV	NLRP10:NM_176821:exon2:c.C485T:p.P162L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0708000829005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	5.038e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.10447	T	0.099	0.38891	T	0.243	0.30970	B	0.119	0.32162	B	0.547706	0.11469	N	0.714096	1	0.08975	N	0.895	0.22405	L	-1.28	0.79376	T	-1.52	0.36980	N	0.095	0.07535	-0.7933	0.55537	T	0.306	0.67676	T	10	0.09202269	0.16170	T	0.071	0.71100	D	0.190	0.46781	0.347	0.34274	0.623514155702	0.62045	0.2106899142293152	0.20984	0.100047662187	0.11309	0.261552780867	0.05077	T	0.011276	0.10082	T	-0.180279	0.23694	T	-0.496735	0.22686	T	0.224843298979359	0.21703	T	.	.	.	0.048830565	0.08572	0.05272348	0.08743	0.048830565	0.08572	0.05272348	0.08742	-4.68	0.33161	T	.	.	0.086	0.10931	B	.	.	1.299663	0.17012	12.91	0.2549260800749355	0.01178	0.21630	0.21469	N	AEFBI	0.052289	0.09320	N	-0.585147996824001	0.19395	1.014731	-0.579033268388869	0.20039	1.077934	0.998464199212227	0.37014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.07	4.09	0.47038	1.467000	0.34930	2.231000	0.31532	0.676000	0.76740	0.005000	0.17040	0.034000	0.21380	0.042000	0.14466	0.0:0.1889:0.8111:0.0	10.978	0.46694	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5514.81	37	chr11	7961127	.	G	A	5514.81	.	AC=2;AF=0.053;AN=38;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.81;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	1	0	0
chr11	7987585	7987585	C	T	exonic	EIF3F	.	nonsynonymous SNV	EIF3F:NM_003754:exon1:c.C233T:p.P78L	.	383	1136	3	0	0	3	0.00131868	.	.	.	2743652	not_provided|EIF3F-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.0208829789782	0.0009	0.000199681	0.0014	0	0.0009	0	0	0.0021	0.0015	0.0013	0.0001876	29	154602	rs200229110	0.0013	0.0013	0.0012	0.0013	0.0040	0.0012	0.0012	0.0026	0.0021	0.0003	0.0007	0.0081	0	0.0002	0.0040	0.0013	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0012	0.0011	0.0002	0	0.0017	0.0086	0	0	0	0.0014	0.0014	0.0002	0.005	0.63226	D	0.034	0.52727	D	0.002	0.09854	B	0.007	0.12992	B	0.874246	0.08802	N	0.943443	0.999998	0.58761	D	0.895	0.22405	L	0.98	0.42122	T	-0.62	0.18248	N	0.142	0.19995	-1.0299	0.20487	T	0.083	0.32700	T	10	0.0059174597	0.00133	T	0.020883	0.43558	T	0.083	0.24192	.	.	0.128874641272	0.12493	0.19762602238569787	0.19679	0.284819605958	0.30900	0.742073535919	0.73278	T	0.008647	0.07927	T	-0.51202	0.00489	T	-0.532885	0.19000	T	0.056818025186601	0.06659	T	.	.	.	0.08013977	0.18347	0.05640729	0.10074	0.08013977	0.18346	0.05640729	0.10073	-4.915	0.35903	T	.	.	0.111	0.34339	B	.;.;.	.;.;.	2.258865	0.28859	17.94	0.99321029265576699	0.59393	0.04962	0.10727	N	AEFGBCI	0.108788	0.21631	N	-0.703135107759395	0.15932	0.8074151	-0.703501639434969	0.16874	0.8946542	0.999999991954739	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.97	2.97	0.33479	0.320000	0.19288	2.430000	0.32726	0.599000	0.40250	0.000000	0.06391	0.928000	0.28476	0.094000	0.17991	0.0:1.0:0.0:0.0	12.230	0.53793	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001056	0.000000	0.000000	0.003846	0.000000	0.008621	0.000000	0.000000	0.02632	2158.33	34	chr11	7987585	.	C	T	2158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.36;MQRankSum=-0.695;QD=14.78;ReadPosRankSum=0.978;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1327	18	0	1	0
chr11	8126754	8126754	C	T	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001206671:exon5:c.G575A:p.R192Q,RIC3:NM_024557:exon5:c.G572A:p.R191Q,RIC3:NM_001346690:exon6:c.G89A:p.R30Q,RIC3:NM_001346692:exon6:c.G425A:p.R142Q,RIC3:NM_001346693:exon6:c.G512A:p.R171Q,RIC3:NM_001346694:exon6:c.G428A:p.R143Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0055	0.00519169	0.0015	0.0163	0.0007	0	0	4.495e-05	0.0011	0	0.0014101	218	154602	rs144870134	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0009	0	0	0	0.0005	3.597e-05	0.0008	5.797e-05	0.0048	0.0048	0.0049	0.0047	0.0170	0.0045	0.0044	0.0160	0.0156	0.0170	0	0.0007	0	0	0	0	8.822e-05	0.0047	0.0004	0.086	0.32769	T	0.136	0.34009	T	0.266	0.31648	B	0.027	0.21085	B	0.048062	0.23286	N	0.357928	0.855423	0.81001	D	1.965	0.53209	M	1.37	0.36512	T	-0.47	0.31778	N	0.282	0.33250	-1.0203	0.23616	T	0.035	0.14987	T	10	0.0065300167	0.00148	T	.	.	.	0.046	0.12618	.	.	0.591584461224	0.58835	0.21525698141183014	0.21441	0.0840217456617	0.09476	0.381259441376	0.22435	T	0.017486	0.14257	T	-0.534664	0.00360	T	-0.527158	0.19571	T	0.0175412668354215	0.00488	T	0.889911	0.63970	D	0.1015298	0.23983	0.08191014	0.18652	0.1015298	0.23983	0.08191014	0.18652	-5.779	0.45324	T	.	.	0.09	0.23113	B	.;.;.	.;.;.	3.299827	0.45293	22.1	0.99853944512690063	0.93279	0.74004	0.36197	D	AEFBI	0.177573	0.30482	N	0.0391164557061656	0.43643	2.653238	0.142148788769828	0.46729	2.914066	2.07281780614803E-4	0.05948	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.66	3.78	0.42629	2.102000	0.41421	1.790000	0.28791	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7857:0.0:0.2143	9.387	0.37515	757	0.50970	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2157.33	33	chr11	8126754	.	C	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.409;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.197;SOR=0.71	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	8126885	8126885	C	G	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001346693:exon6:c.G381C:p.Q127H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00519169	0.0020	0.0210	0.0008	0	0	2.149e-05	0.0014	0	0.0013583	210	154602	rs140788261	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0136	0.0131	0.0147	0.0009	0	0	0	0.0005	1.035e-05	0.0008	7.125e-05	0.0048	0.0048	0.0050	0.0047	0.0171	0.0046	0.0044	0.0161	0.0156	0.0171	0	0.0007	0	0	0	0	7.351e-05	0.0047	0.0004	0.161	0.23631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.4	0.33630	T	-0.3	0.11913	N	.	.	-1.0635	0.10902	T	0.047	0.20275	T	7	0.0043251514	0.00087	T	.	.	.	0.037	0.09474	0.167	0.07186	0.371718192555	0.36778	.	.	.	.	.	.	.	.	.	.	-0.637348	0.00086	T	-0.674657	0.07313	T	0.00708741225382092	0.00081	T	0.516848	0.16688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34094	B	.	.	0.764911	0.11347	7.965	0.95857293010056388	0.28008	0.23193	0.21996	N	AEFGBI	.	.	.	-0.463703479249093	0.23277	1.248884	-0.544595362626803	0.20948	1.131032	3.36591149583597E-4	0.06583	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.02	3.57	0.40014	0.439000	0.21293	-0.800000	0.07378	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.299000	0.24476	0.1628:0.6919:0.0:0.1453	5.918	0.18302	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1165.33	33	chr11	8126885	.	C	G	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=738;ExcessHet=0;FS=2.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.4;SOR=0.988	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	8452869	8452869	C	T	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289059:exon6:c.G263A:p.R88K,STK33:NM_001289061:exon8:c.G824A:p.R275K,STK33:NM_001352393:exon8:c.G824A:p.R275K,STK33:NM_001352396:exon8:c.G701A:p.R234K,STK33:NM_001352397:exon8:c.G701A:p.R234K,STK33:NM_001352399:exon8:c.G824A:p.R275K,STK33:NM_001289058:exon9:c.G701A:p.R234K,STK33:NM_001352387:exon9:c.G824A:p.R275K,STK33:NM_001352391:exon9:c.G824A:p.R275K,STK33:NM_001352394:exon9:c.G701A:p.R234K,STK33:NM_001352395:exon9:c.G701A:p.R234K,STK33:NM_001352398:exon9:c.G701A:p.R234K,STK33:NM_030906:exon9:c.G824A:p.R275K,STK33:NM_001352388:exon10:c.G824A:p.R275K,STK33:NM_001352390:exon10:c.G824A:p.R275K,STK33:NM_001352392:exon10:c.G824A:p.R275K,STK33:NM_001352389:exon11:c.G824A:p.R275K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0159928083897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965	0.02678	T	0.935	0.02786	T	0.044	0.21686	B	0.048	0.24975	B	0.000064	0.52346	D	0.195970	1	0.08975	N	0.305	0.10234	N	2.02	0.63568	T	-0.62	0.21860	N	0.173	0.18512	-1.0146	0.25464	T	0.098	0.36625	T	10	0.14739808	0.27930	T	0.015993	0.37021	T	0.062	0.17934	0.381	0.39807	0.629573956357	0.62654	0.3616674524877966	0.36080	0.100588658315	0.11367	0.32249712944	0.13798	T	0.004924	0.08612	T	-0.140875	0.29750	T	-0.440133	0.28794	T	0.681577503681183	0.39860	D	0.684832	0.29327	T	0.094359	0.22183	0.08773615	0.20413	0.094359	0.22182	0.08773615	0.20412	-6.184	0.47793	T	.	.	0.093	0.24430	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.834433	0.37373	20.5	0.45265250635422621	0.03540	0.78105	0.38486	D	AEFI	0.739814	0.68425	D	-0.485204979935725	0.22566	1.20579	-0.328093603931259	0.27195	1.507354	0.00644535847037958	0.11219	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.22	4.31	0.50718	5.913000	0.69690	7.662000	0.64290	0.544000	0.25403	0.998000	0.41325	0.942000	0.28804	0.650000	0.32692	0.0:0.9117:0.0:0.0883	11.014	0.46896	534	0.73357	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	896.33	39	chr11	8452869	.	C	T	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=694;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.72;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,34:51:99:910,0,382	18	0	1	0
chr11	8474715	8474715	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289061:exon2:c.A191G:p.N64S,STK33:NM_001352393:exon2:c.A191G:p.N64S,STK33:NM_001352396:exon2:c.A68G:p.N23S,STK33:NM_001352397:exon2:c.A68G:p.N23S,STK33:NM_001352399:exon2:c.A191G:p.N64S,STK33:NM_001289058:exon3:c.A68G:p.N23S,STK33:NM_001352387:exon3:c.A191G:p.N64S,STK33:NM_001352391:exon3:c.A191G:p.N64S,STK33:NM_001352394:exon3:c.A68G:p.N23S,STK33:NM_001352395:exon3:c.A68G:p.N23S,STK33:NM_001352398:exon3:c.A68G:p.N23S,STK33:NM_030906:exon3:c.A191G:p.N64S,STK33:NM_001352388:exon4:c.A191G:p.N64S,STK33:NM_001352390:exon4:c.A191G:p.N64S,STK33:NM_001352392:exon4:c.A191G:p.N64S,STK33:NM_001352389:exon5:c.A191G:p.N64S	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0135606574936	.	0.000199681	0.0003	0	0	0	0	4.573e-05	0	0.0018	0.0002199	34	154602	rs570390366	0.0001	0.0001	8.045e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0	0.0003	3.06e-05	0.0001	0.0017	4.597e-05	4.593e-05	5.14e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0.0010	0.324	0.15047	T	0.77	0.21947	T	0.002	0.09854	B	0.001	0.04355	B	0.233437	0.03533	N	1.582870	1	0.08975	N	1.04	0.26193	L	-0.41	0.70365	T	0.1	0.09965	N	0.006	0.04072	-1.0378	0.17985	T	0.148	0.47451	T	10	0.008244723	0.00187	T	0.013561	0.33056	T	0.032	0.07718	0.186	0.09517	0.306053231325	0.30222	0.104759688149967	0.10405	0.0613836107594	0.06837	0.271363794804	0.06319	T	0.003726	0.08381	T	-0.60164	0.00142	T	-0.656005	0.08539	T	0.0424917169353681	0.04145	T	0.266073	0.04370	T	0.0163152	0.00190	0.019035386	0.00075	0.0163152	0.00189	0.019035386	0.00074	-3.07	0.10954	T	.	.	0.072	0.08899	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-2.515550	0.00031	0.001	0.1731051690130232	0.00499	0.00464	0.02234	N	AEI	0.094336	0.19076	N	-1.8900344798874	0.00360	0.01546363	-1.97750789674643	0.00341	0.01507939	3.62914443323609E-4	0.06707	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.98	-5.77	0.02176	-3.802000	0.00408	-2.544000	0.03626	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1247:0.2632:0.233:0.3791	1.332	0.02008	453	0.79178	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1311.33	36	chr11	8474715	.	T	C	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.92;DP=724;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.583;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	8619460	8619460	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon18:c.C3295T:p.P1099S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00827948574975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.14159	T	1.0	0.01155	T	0.024	0.19075	B	0.092	0.30031	B	0.018393	0.27494	N	0.222293	0.999997	0.08975	N	-0.28	0.03718	N	1.95	0.22474	T	-0.58	0.17417	N	0.076	0.11197	-0.9518	0.40660	T	0.019	0.08126	T	10	0.056612432	0.06372	T	0.008279	0.21928	T	0.047	0.12962	0.263	0.20788	0.289098819767	0.28531	0.2170923711140654	0.21625	.	.	0.397117137909	0.24667	T	0.004858	0.04280	T	-0.256623	0.13298	T	-0.606398	0.12280	T	0.353112757205963	0.27140	T	0.777822	0.52631	T	0.09778182	0.23055	0.08080656	0.18309	0.09778182	0.23055	0.08080656	0.18309	0.123	0.00308	T	.	.	0.117	0.48685	B	.;.;.	.;.;.	3.415978	0.47413	22.5	0.94497581597753355	0.24967	0.66110	0.32965	D	AEFBI	0.109347	0.21722	N	-0.563613021046277	0.20059	1.054635	-0.349857087303558	0.26513	1.464959	3.18937357645545E-4	0.06498	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.95	2.89	0.32713	2.082000	0.41230	9.569000	0.81007	0.666000	0.68947	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1035:0.0:0.4719:0.4245	5.983	0.18650	502	0.75873	Bromodomain|Bromodomain|Bromodomain;Bromodomain|Bromodomain|Bromodomain;Bromodomain|Bromodomain|Bromodomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1301.33	33	chr11	8619460	.	G	A	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=734;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.643;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr11	8620481	8620481	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.C3109T:p.R1037W	.	431	1077	13	1	0	15	0.00691563	.	.	.	2816426	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0037	0.00379393	0.0046	0.0005	0.0026	0	0.0025	0.0047	0.0047	0.0063	0.0012354	191	154602	rs138444298	0.0047	0.0045	0.0047	0.0048	0.0068	0.0046	0.0046	0.0063	0.0062	0.0010	0.0036	0.0031	0	0.0024	0.0047	0.0050	0.0047	0.0068	0.0032	0.0032	0.0034	0.0030	0.0072	0.0030	0.0029	0.0054	0.0047	0.0009	0	0.0029	0.0043	0	0.0023	0.0068	0.0047	0.0047	0.0072	0.001	0.78490	D	0.018	0.59732	D	0.081	0.24602	B	0.027	0.21085	B	0.006642	0.31890	N	0.204155	1	0.08975	N	1.79	0.46772	L	-0.2	0.66474	T	-4.12	0.75058	D	0.217	0.24260	-0.8955	0.48437	T	0.130	0.43887	T	10	0.0055477023	0.00123	T	.	.	.	0.079	0.23065	.	.	0.732548156873	0.73016	0.49871414342802306	0.49792	.	.	0.425918519497	0.28650	T	0.16208	0.50659	T	-0.423098	0.01635	T	-0.375962	0.36194	T	0.0314704420708291	0.02221	T	0.742826	0.36203	T	0.14717536	0.33656	0.17139192	0.39317	0.14717536	0.33655	0.17139192	0.39317	-5.445	0.41350	T	.	.	0.131	0.28232	B	.;.;.	.;.;.	3.567947	0.50241	22.9	0.99702678716745119	0.80729	0.28097	0.23460	N	AEFDBI	0.346012	0.44097	N	-0.432309289709939	0.24343	1.313791	-0.359936476188308	0.26203	1.445801	0.00582570620209449	0.11053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	3.76	0.42368	0.884000	0.27851	5.827000	0.50131	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.845000	0.39915	0.0875:0.1601:0.7524:0.0	8.067	0.29828	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008353	0.015957	0.006944	0.008547	0.000000	0.000000	0.005882	0.000000	0.02632	1361.33	36	chr11	8620481	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.33;DP=782;ExcessHet=0;FS=4.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.13;SOR=1.07	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1291	18	0	1	0
chr11	8640672	8640672	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1268T:p.A423V	.	433	1076	10	3	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	.	0.0034	0	0.0024	0	0	0.0056	0.0149	0.0023	0.0007309	113	154602	rs201023559	0.0018	0.0017	0.0017	0.0019	0.0030	0.0017	0.0017	0.0025	0.0024	0.0002	0.0010	0.0159	2.798e-05	0.0006	0.0030	0.0015	0.0027	0.0028	0.0016	0.0016	0.0016	0.0016	0.0021	0.0015	0.0014	0.0019	0.0018	0.0002	0	0.0014	0.0167	0.0002	0.0003	0.0034	0.0021	0.0005	0.0019	0.007	0.63226	D	0.247	0.24054	T	0.265	0.31634	B	0.074	0.28220	B	0.711139	0.10013	N	0.847995	0.99876	0.21933	N	0.975	0.24501	L	2.22	0.18248	T	-0.34	0.12661	N	0.073	0.11340	-1.0649	0.10572	T	0.044	0.18906	T	10	0.0048727393	0.00104	T	.	.	.	0.075	0.21907	.	.	0.317667799068	0.31381	0.13300085741214776	0.13224	.	.	0.342824816704	0.16860	T	0.003345	0.02748	T	-0.534771	0.00360	T	-0.546175	0.17695	T	0.0304136835916939	0.02054	T	0.730127	0.34567	T	0.046097476	0.07657	0.07208847	0.15512	0.046097476	0.07657	0.07208847	0.15511	-3.443	0.15642	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.407311	0.30938	18.59	0.98792263378419221	0.46317	0.84066	0.43151	D	AEFDGBI	0.103041	0.20655	N	-0.0441051428732156	0.39868	2.358027	0.0540653144450471	0.42270	2.553693	0.999918908304563	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.769059	0.98459	0	0.683762	0.67416	0	.	.	5.23	5.23	0.72570	2.042000	0.40844	7.509000	0.59594	0.610000	0.48991	0.983000	0.35670	1.000000	0.68203	0.971000	0.54645	0.0:0.1968:0.6684:0.1348	9.483	0.38078	362	0.84826	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002058	0.000000	0.000000	0.000000	0.000000	0.000000	0.005208	0.009091	0.02632	1527.33	42	chr11	8640672	.	G	A	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.872;DP=935;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.223;SOR=0.735	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1353	18	0	1	0
chr11	8715617	8715617	G	A	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376505:exon3:c.C247T:p.R83C,DENND2B:NM_001376506:exon4:c.C247T:p.R83C,DENND2B:NM_001376499:exon5:c.C1291T:p.R431C,DENND2B:NM_001376501:exon5:c.C571T:p.R191C,DENND2B:NM_001376502:exon5:c.C571T:p.R191C,DENND2B:NM_001376503:exon5:c.C571T:p.R191C,DENND2B:NM_001376498:exon6:c.C1831T:p.R611C,DENND2B:NM_213618:exon6:c.C1831T:p.R611C,DENND2B:NM_001376497:exon7:c.C1831T:p.R611C,DENND2B:NM_001376500:exon7:c.C1150T:p.R384C,DENND2B:NM_001376496:exon8:c.C1831T:p.R611C,DENND2B:NM_139157:exon8:c.C571T:p.R191C,DENND2B:NM_005418:exon9:c.C1831T:p.R611C,DENND2B:NM_001376495:exon10:c.C1831T:p.R611C	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0201142126349	.	0.000798722	0.0010	0	0	0.0001	0	1.558e-05	0	0.0076	0.0008279	128	154602	rs371806921	0.0005	0.0005	0.0002	0.0007	0.0072	0.0004	0.0004	0.0067	0.0065	0	0	0	0	0	0.0016	1.17e-05	0.0003	0.0072	0.0001	0.0001	5.138e-05	0.0002	0.0039	9.734e-05	8.25e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0039	0.008	0.78490	D	0.081	0.92824	T	0.342	0.44460	B	0.071	0.34617	B	0.000029	0.55875	D	0.116598	0.999969	0.52935	D	2.24	0.63355	M	2.88	0.10291	T	-5.08	0.92648	D	0.626	0.67045	-1.1040	0.03640	T	0.024	0.10148	T	10	0.008537948	0.00193	T	0.020114	0.42635	T	0.155	0.40530	0.288	0.24761	0.226560886239	0.22246	0.40083440901178696	0.39998	0.760631165831	0.64247	0.761724472046	0.76186	T	0.377599	0.74075	T	-0.379451	0.03141	T	-0.314942	0.43127	T	0.226931734699564	0.21804	T	0.985101	0.96320	D	0.29980543	0.52887	0.29898483	0.55932	0.29980543	0.52887	0.29898483	0.55931	-10.328	0.76531	D	.	.	0.197	0.69971	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.804697	0.78109	26.8	0.99854037232931059	0.93279	0.86944	0.46341	D	AEFDBI	0.536166	0.55449	D	0.222428748504206	0.52287	3.403842	0.366169777968197	0.59486	4.127035	0.999999761206092	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.563494	0.21769	0	.	.	5.54	5.54	0.82907	4.448000	0.59768	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8142:0.1858	14.232	0.65443	504	0.75712	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.007576	0.05263	4302.81	34	chr11	8715617	.	G	A	4302.81	.	AC=2;AF=0.053;AN=38;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.95;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	18	1	0	0
chr11	8730845	8730845	C	G	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376498:exon3:c.G445C:p.G149R,DENND2B:NM_213618:exon3:c.G445C:p.G149R,DENND2B:NM_001376497:exon4:c.G445C:p.G149R,DENND2B:NM_001376496:exon5:c.G445C:p.G149R,DENND2B:NM_005418:exon6:c.G445C:p.G149R,DENND2B:NM_001376495:exon7:c.G445C:p.G149R	.	.	.	.	.	.	.	.	.	.	.	3236941	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00605008867724	.	0.000199681	8.561e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs201689848	7.529e-06	7.525e-06	4.086e-06	1.101e-05	0.0002	4.04e-06	2.95e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0.0002	0	3.312e-05	0	6.565e-06	6.562e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.048	0.42783	D	0.442	0.57587	T	0.026	0.19406	B	0.021	0.19346	B	0.020522	0.27020	N	0.408862	1	0.81001	D	0.69	0.16971	N	3.54	0.04799	T	0.38	0.35792	N	0.18	0.20660	-0.9822	0.34491	T	0.015	0.06282	T	10	0.07304308	0.10985	T	0.00605	0.15816	T	0.045	0.12272	.	.	0.102598925029	0.09809	0.06955909251416757	0.06893	0.29671546601	0.32059	0.505133867264	0.39543	T	0.020068	0.20139	T	-0.35053	0.04694	T	-0.558521	0.16515	T	0.0297859169604579	0.01956	T	0.80292	0.44963	T	0.03207306	0.03165	0.061971128	0.12051	0.03207306	0.03164	0.061971128	0.12051	-3.219	0.12714	T	.	.	0.134	0.50916	B	.;.;.;.	.;.;.;.	2.213810	0.28248	17.73	0.92607283525117279	0.22072	0.72629	0.35543	D	AEFBCI	0.459198	0.50991	N	-0.629403733614248	0.18065	0.9348926	-0.493421624730811	0.22334	1.212576	0.999534126224503	0.40238	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	5.87	3.57	0.40014	3.031000	0.49417	3.520000	0.38893	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.1276:0.0:0.8724	10.063	0.41459	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1864.33	42	chr11	8730845	.	C	G	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.941;SOR=0.714	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr11	8932248	8932248	G	T	exonic	C11orf16	.	nonsynonymous SNV	C11orf16:NM_020643:exon2:c.C61A:p.L21M	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0038	0.00339457	0.0065	0.0013	0.0030	0.0003	0.0155	0.0082	0.0069	0.0058	0.0045019	696	154602	rs147009902	0.0050	0.0050	0.0050	0.0051	0.0055	0.0049	0.0049	0.0054	0.0053	0.0010	0.0028	0.0012	0.0002	0.0080	0.0037	0.0055	0.0038	0.0044	0.0038	0.0038	0.0037	0.0039	0.0055	0.0035	0.0034	0.0051	0.0049	0.0010	0.0077	0.0028	0.0009	0	0.0076	0.0068	0.0055	0.0047	0.0023	0.033	0.45039	D	0.089	0.44302	T	0.996	0.77913	D	0.964	0.73562	D	0.078308	0.21051	N	0.347140	0.998944	0.21775	N	2.39	0.68882	M	1.32	0.35405	T	-0.84	0.23808	N	0.251	0.34981	-0.9698	0.37242	T	0.132	0.44347	T	10	0.0074902773	0.00170	T	.	.	.	0.106	0.30130	.	.	0.190952846119	0.18690	0.27289446184904287	0.27202	0.11670823845	0.13163	.	.	.	0.011669	0.10375	T	-0.456547	0.01032	T	-0.420613	0.31006	T	0.0143281226341598	0.00286	T	0.59564	0.22108	T	0.11766364	0.27736	0.09523284	0.22578	0.11766364	0.27736	0.09523284	0.22577	-5.729	0.43950	T	.	.	0.123	0.25689	B	.;.	.;.	2.465993	0.31778	18.84	0.99488971633795142	0.67347	0.51971	0.29021	D	AEFGBI	0.121485	0.23617	N	0.28911416094338	0.55596	3.723652	0.217155897170878	0.50797	3.268212	0.999957727734356	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.19	4.26	0.49832	0.326000	0.19391	2.067000	0.30424	0.676000	0.76740	0.843000	0.30332	0.998000	0.33993	0.161000	0.20682	0.0:0.1744:0.8256:0.0	12.576	0.55717	434	0.80536	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004053	0.000000	0.005450	0.005848	0.050000	0.000000	0.006211	0.000000	0.02632	2055.33	40	chr11	8932248	.	G	T	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.598;DP=873;ExcessHet=0;FS=1.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.968;SOR=0.792	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr11	9434945	9434945	C	G	exonic	IPO7	.	nonsynonymous SNV	IPO7:NM_006391:exon19:c.C2086G:p.L696V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00890553581119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.02355	T	0.551	0.09393	T	0.98	0.59353	D	0.744	0.55835	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.305	0.32671	L	-0.38	0.69027	T	-0.45	0.14782	N	0.537	0.56489	-0.7094	0.59982	T	0.275	0.64691	T	10	0.4405745	0.58074	T	0.008906	0.23487	T	0.267	0.58126	0.602	0.73346	0.519533312159	0.51597	0.2428668726831784	0.24200	0.765090174014	0.64454	0.765576481819	0.76761	T	0.176901	0.52701	T	-0.0172598	0.49243	T	-0.262569	0.48566	T	0.788419961929321	0.45586	D	0.953205	0.82144	D	0.13758926	0.31852	0.11843174	0.28588	0.13758926	0.31851	0.11843174	0.28588	-8.163	0.62175	D	.	.	0.202	0.42650	B	.	.	3.700081	0.52769	23.3	0.99396190414402674	0.62565	0.97493	0.75105	D	AEFBI	0.794525	0.72221	D	0.304114767905728	0.56361	3.800538	0.344747646619535	0.58193	3.988322	0.985300711556583	0.30864	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	4.72	0.59248	4.867000	0.62709	3.960000	0.40741	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9289:0.0:0.0711	14.424	0.66772	379	0.83778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	33	chr11	9434945	.	C	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.937;DP=865;ExcessHet=0;FS=120.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=-0.118;SOR=7.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr11	9850160	9850160	C	T	exonic	SBF2	.	nonsynonymous SNV	SBF2:NM_030962:exon22:c.G2669A:p.R890Q	Charcot-Marie-Tooth disease, type 4B2, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	YES	315619	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease_type_4B2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0011475,MedGen:C1858278,OMIM:604563,Orphanet:99956	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.677	0.100575647352	.	.	8.259e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs755699993	1.095e-05	1.094e-05	1.361e-05	8.251e-06	0.0004	6.48e-06	5.24e-06	6.511e-05	4.449e-05	0	0	0	0.0002	0	0.0004	2.698e-06	1.656e-05	4.638e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055235	1	0.81001	D	2.905	0.84014	M	-2.26	0.87352	D	-3.69	0.70432	D	0.829	0.82458	0.763	0.93958	D	0.834	0.94433	D	10	0.8903128	0.88371	D	0.100576	0.77294	D	0.677	0.88109	0.671	0.80903	0.985054221862	0.98489	0.7460584476303946	0.74551	0.77655175274	0.65064	0.796203732491	0.81385	T	0.909374	0.98281	D	0.451357	0.92542	D	0.410567	0.92449	D	0.999169588088989	0.96394	D	0.973503	0.90460	D	0.74414164	0.80530	0.68330246	0.81383	0.74414164	0.80532	0.68330246	0.81384	-13.157	0.89999	D	0.7841034550047217	0.86357	0.810	0.77773	P	.	.	4.660287	0.74384	26.1	0.99961265146172373	0.99997	0.98476	0.83180	D	AEFBI	0.918393	0.88738	D	0.976478965783813	0.94974	13.19939	0.951860413349326	0.97459	16.16587	0.999999999999961	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567339	0.31927	0	.	.	6.17	6.17	0.99707	7.900000	0.86025	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	484	0.77165	GRAM domain|GRAM domain|Myotubularin-related protein 13, PH-GRAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	39	chr11	9850160	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=718;ExcessHet=0;FS=2.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=0.129;SOR=1.095	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr11	10505819	10505819	T	C	exonic	AMPD3	.	nonsynonymous SNV	AMPD3:NM_001172431:exon14:c.T1762C:p.C588R,AMPD3:NM_000480:exon15:c.T2266C:p.C756R,AMPD3:NM_001025389:exon15:c.T2239C:p.C747R,AMPD3:NM_001025390:exon15:c.T2260C:p.C754R,AMPD3:NM_001172430:exon15:c.T2239C:p.C747R	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.0678596886276	.	.	8.246e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs774955166	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	1.799e-06	0	6.956e-05	6.569e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.624	0.28900	T	0.415	0.14326	T	0.038	0.21002	B	0.017	0.18140	B	0.000000	0.84330	D	0.062596	1	0.81001	D	1.345	0.33447	L	-1.57	0.81900	D	-5.38	0.84954	D	0.761	0.80767	-0.0438	0.81338	T	0.583	0.85021	D	10	0.7913933	0.78691	D	0.06786	0.70288	D	0.781	0.92705	0.473	0.54859	0.96035454392	0.95993	0.9216851873768198	0.92144	0.525708811115	0.50218	0.912594795227	0.97710	D	0.658223	0.89711	D	0.264403	0.79934	D	0.323548	0.89240	D	0.597139066934359	0.36287	D	0.909209	0.67884	D	0.80159515	0.84008	0.7919345	0.87766	0.80159515	0.84009	0.7919345	0.87766	-8.433	0.66211	D	0.2146515230487774	0.28844	0.375	0.59471	A	.;.;.;.;.	.;.;.;.;.	4.347355	0.66745	25.0	0.9968364179913034	0.79440	0.92449	0.55738	D	AEFDBHCIJ	0.947154	0.95740	D	0.420785174664905	0.62566	4.474594	0.528843324656432	0.69941	5.432483	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.95	5.95	0.96415	8.017000	0.88732	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.424	0.83629	743	0.52768	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1220.33	35	chr11	10505819	.	T	C	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.153;DP=782;ExcessHet=0;FS=3.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.633;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	18	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	254.36	33	chr11	10559867	.	G	A	254.36	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.18;DP=1302;ExcessHet=0.119;FS=423.277;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.24;SOR=9.472	GT:AD:DP:GQ:PL	0/0:71,0:71:40:0,40,1457	10	0	2	7
chr11	10628756	10628756	G	A	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001098579:exon5:c.C620T:p.P207L,IRAG1:NM_001100163:exon6:c.C374T:p.P125L,IRAG1:NM_001206880:exon6:c.C647T:p.P216L,IRAG1:NM_130385:exon6:c.C647T:p.P216L	.	421	1097	4	0	0	4	0.00181984	.	.	.	3275208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00387089026223	0.0002	.	0.0006	0	0	0	0	0.0004	0.0040	0.0013	0.0001617	25	154602	rs373371120	0.0001	0.0001	6.569e-05	0.0001	0.0014	9.261e-05	8.719e-05	0.0007	0.0007	0	3.447e-05	4.222e-05	0	0	0.0014	5.365e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0008	9.737e-05	8.252e-05	0.0003	0.0002	0	0	0.0001	0	0	0	0	0.0002	0.0009	0.0008	0.001	0.78490	D	0.019	0.74150	D	.	.	.	.	.	.	0.220706	0.16145	N	0.640448	0.999997	0.19925	N	.	.	.	2.88	0.14907	T	-2.1	0.59389	N	0.153	0.16168	-1.0175	0.24528	T	0.033	0.14334	T	10	0.02473393	0.00691	T	0.003871	0.09086	T	0.015	0.02232	.	.	0.254761474806	0.25079	0.07647011370164773	0.07583	0.0792818033649	0.08917	0.33132404089	0.15134	T	0.116195	0.43536	T	-0.573566	0.00211	T	-0.637197	0.09875	T	0.0450291013039011	0.04608	T	0.719228	0.38541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03698	B	.;.;.;.	.;.;.;.	0.823767	0.11949	8.511	0.94720942963389509	0.25393	0.14718	0.18550	N	AEFDGBIJ	0.176360	0.30356	N	-0.948367259899022	0.09729	0.4617525	-0.993729012031938	0.09925	0.4967174	0.134056757399755	0.17147	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.7	0.396	0.15532	0.714000	0.25478	0.075000	0.14313	-0.113000	0.14837	0.023000	0.19925	0.001000	0.17328	0.009000	0.08673	0.2102:0.1274:0.5307:0.1317	2.503	0.04355	474	0.77851	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2553.81	81	chr11	10628756	.	G	A	2553.81	.	AC=2;AF=0.053;AN=38;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.53;SOR=1.193	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	1	0	0
chr11	10778867	10778867	G	A	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.G3212A:p.R1071K,CTR9:NM_014633:exon25:c.G3284A:p.R1095K	.	432	1083	7	0	0	7	0.00322135	.	.	.	935277	Predisposition_to_Wilms_tumor,_CTR9-related|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0144982354941	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs141434094	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	3.826e-05	0	1.872e-05	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0004	0	0	0.334	0.12961	T	0.884	0.03187	T	0.841	0.46518	P	0.745	0.55870	P	0.000000	0.84330	D	0.044916	1	0.81001	D	1.525	0.38595	L	0.95	0.43279	T	-0.12	0.08809	N	0.33	0.37093	-1.0464	0.15418	T	0.113	0.40261	T	10	0.093266755	0.16492	T	0.014498	0.34657	T	0.156	0.40720	.	.	0.456461865991	0.45270	0.27371880974305096	0.27284	0.135726669683	0.15305	0.589054882526	0.51360	T	0.047186	0.27649	T	-0.349423	0.04763	T	-0.381117	0.35591	T	0.160974930325239	0.17943	T	0.690631	0.30012	T	0.20660912	0.42840	0.19757381	0.43546	0.20660912	0.42840	0.19757381	0.43545	-4.105	0.25364	T	.	.	0.071	0.03773	B	.	.	3.274452	0.44839	22.0	0.99264206114572895	0.57322	0.93889	0.59485	D	AEFDBHCIJ	0.681721	0.64498	D	0.29834465419715	0.56064	3.770742	0.399323738613922	0.61523	4.353607	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.921000	0.63096	9.913000	0.82443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	19.391	0.94572	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2227.33	34	chr11	10778867	.	G	A	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.298;DP=772;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=1.39;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	18	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N,ZBED5:NM_021211:exon3:c.G1640A:p.S547N	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012821	0.000000	0.000000	0.000000	0.100000	0.000000	0.033333	0.044118	0.02632	1257.33	34	chr11	10853306	.	C	T	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.325;DP=885;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.304;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr11	12204322	12204322	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon2:c.G337A:p.V113I,MICAL2:NM_001282667:exon2:c.G337A:p.V113I,MICAL2:NM_001282664:exon3:c.G337A:p.V113I,MICAL2:NM_001282665:exon3:c.G337A:p.V113I,MICAL2:NM_001346292:exon3:c.G337A:p.V113I,MICAL2:NM_001346294:exon3:c.G337A:p.V113I,MICAL2:NM_001346298:exon3:c.G337A:p.V113I,MICAL2:NM_001282663:exon4:c.G337A:p.V113I,MICAL2:NM_001282668:exon4:c.G337A:p.V113I,MICAL2:NM_001346293:exon4:c.G337A:p.V113I,MICAL2:NM_001346295:exon4:c.G337A:p.V113I,MICAL2:NM_001346296:exon4:c.G337A:p.V113I,MICAL2:NM_001346297:exon4:c.G337A:p.V113I,MICAL2:NM_001346299:exon4:c.G337A:p.V113I,MICAL2:NM_014632:exon4:c.G337A:p.V113I	.	430	1059	33	0	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0026	0.00778754	0.0055	0.0005	0.0024	0	0.0032	0.0039	0.0088	0.0211	0.0050064	774	154602	rs140406273	0.0042	0.0042	0.0038	0.0047	0.0197	0.0042	0.0041	0.0189	0.0186	0.0006	0.0018	3.826e-05	5.038e-05	0.0038	0.0069	0.0034	0.0053	0.0197	0.0029	0.0029	0.0026	0.0032	0.0178	0.0026	0.0026	0.0148	0.0137	0.0004	0	0.0041	0	0.0002	0.0044	0.0034	0.0031	0.0038	0.0178	0.053	0.56456	T	0.006	0.92824	D	0.104	0.25941	B	0.215	0.37512	B	0.000001	0.84330	D	0.000000	1	0.81001	D	0.51	0.13489	N	-3.73	0.95458	D	-0.99	0.26422	N	0.389	0.43029	0.385	0.88870	D	0.769	0.92157	D	9	0.008889675	0.00201	T	.	.	.	0.395	0.71004	.	.	0.769179187583	0.76706	0.7287106623859314	0.72815	0.441022210684	0.44097	0.584412813187	0.50707	T	0.038793	0.24967	T	-0.101395	0.36194	T	0.0978326	0.76765	D	0.023508386497665	0.01085	T	0.908909	0.69206	D	0.15731739	0.35455	0.13362809	0.32039	0.15731739	0.35454	0.13362809	0.32038	-8.562	0.65248	D	.	.	0.132	0.36315	B	.;.;.;.;.	.;.;.;.;.	4.339909	0.66570	25.0	0.998640528353262	0.94184	0.98884	0.88144	D	AEFBI	0.907839	0.86237	D	0.148236922659775	0.48730	3.081587	0.353058625645098	0.58690	4.041303	0.999999999999998	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	8.116000	0.89434	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.429	0.94749	900	0.24599	FAD-binding domain;.;FAD-binding domain;FAD-binding domain;FAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.02632	1236.33	34	chr11	12204322	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.131;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.75;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1348	18	0	1	0
chr11	12249217	12249217	C	T	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon16:c.C2248T:p.P750S,MICAL2:NM_001282665:exon17:c.C2248T:p.P750S,MICAL2:NM_001346292:exon21:c.C2818T:p.P940S,MICAL2:NM_001282663:exon22:c.C2818T:p.P940S,MICAL2:NM_014632:exon22:c.C2818T:p.P940S	.	433	1083	6	0	0	6	0.00276243	.	.	.	3289372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00575812016563	.	0.000199681	0.0001	0	8.72e-05	0	0	3.031e-05	0.0011	0.0007	0.00011	17	154602	rs542038120	5.554e-05	5.61e-05	3.003e-05	8.13e-05	0.0007	4.554e-05	4.165e-05	0.0006	0.0005	0	0.0002	0	0	0	0.0002	7.214e-06	6.637e-05	0.0007	4.596e-05	4.593e-05	2.569e-05	6.714e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0006	0.85	0.02739	T	0.631	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.001470	0.00788	N	3.997070	1	0.08975	N	0.345	0.11182	N	0.28	0.59037	T	-0.19	0.19933	N	0.221	0.31925	-0.9943	0.31485	T	0.083	0.32642	T	10	0.011966616	0.00259	T	0.005758	0.14952	T	0.082	0.23913	0.146	0.04941	0.368183359018	0.36430	0.35957286437489294	0.35871	0.107422005202	0.12120	0.252389550209	0.04023	T	0.002637	0.02024	T	-0.429952	0.01483	T	-0.525371	0.19752	T	0.0295546285197988	0.01921	T	0.578742	0.28770	T	0.04865516	0.08516	0.036550716	0.03125	0.04865516	0.08515	0.036550716	0.03125	-2.924	0.09386	T	.	.	0.075	0.10304	B	.;.;.	.;.;.	1.265843	0.16643	12.67	0.99495210195415384	0.67687	0.01861	0.05745	N	AEFDBI	0.037105	0.05050	N	-1.18309309260597	0.05256	0.2391493	-1.14948584043174	0.06777	0.3273758	0.998812127571729	0.37733	0.645754	0.44609	0	0.610034	0.51514	0	0.491513	0.07944	0	0.723	0.93126	0	.	.	4.77	-1.63	0.07900	-0.154000	0.10116	-2.001000	0.04364	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.0:0.3582:0.1637:0.4781	4.76	0.12476	883	0.28872	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1433.33	34	chr11	12249217	.	C	T	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.983;DP=778;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.06;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.000000	0.021739	0.035088	0.000000	0.025862	0.021341	0.011364	0.02632	2198.33	40	chr11	12293628	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.615;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.68;SOR=0.704	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1462	18	0	1	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	21836.4	77	chr11	12294842	.	A	*	21836.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.54;DP=1679;ExcessHet=0.0541;FS=3.862;InbreedingCoeff=0.2629;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=1.31;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	15	0	2	2
chr11	14259441	14259443	GAG	-	exonic	SPON1	.	nonframeshift deletion	SPON1:NM_006108:exon12:c.1654_1656del:p.E553del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1946.29	35	chr11	14259440	.	CGAG	C	1946.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=762;ExcessHet=0;FS=8.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-2.332;SOR=1.26	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	18	0	1	0
chr11	14775673	14775673	G	T	exonic	PDE3B	.	nonsynonymous SNV	PDE3B:NM_001363570:exon3:c.G1120T:p.D374Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	.	.	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	54.23	2	chr11	14775673	.	G	T	54.23	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=0.1158;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	10	0	1	8
chr11	16791144	16791144	T	C	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon20:c.A2801G:p.Q934R,PLEKHA7:NM_001329631:exon20:c.A2804G:p.Q935R,PLEKHA7:NM_175058:exon20:c.A2801G:p.Q934R	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0117028281059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.07870	T	0.601	0.07919	T	0.432	0.44643	B	0.093	0.36635	B	0.000092	0.51296	D	0.207171	1	0.81001	D	2.015	0.55033	M	2.11	0.19860	T	-1.11	0.31375	N	0.403	0.44379	-1.0325	0.19650	T	0.090	0.34518	T	10	0.12499377	0.23746	T	0.011703	0.29585	T	0.064	0.18567	0.115	0.02372	0.426318900417	0.42251	0.19556831310308695	0.19473	0.283258498893	0.30771	0.509121119976	0.40099	T	0.018716	0.17850	T	-0.204965	0.20091	T	-0.532194	0.19068	T	0.62830913066864	0.37548	D	0.908809	0.68863	D	0.1854901	0.39914	0.13378185	0.32073	0.1854901	0.39914	0.13378185	0.32072	-4.548	0.31512	T	.	.	0.104	0.23918	B	.;.;.	.;.;.	3.890776	0.56615	23.8	0.96378181731371027	0.29610	0.88036	0.47792	D	AEFDGBI	0.495930	0.53109	N	0.115395221370506	0.47181	2.947426	0.204981944535379	0.50125	3.20773	0.999993809460677	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.43	4.23	0.49319	3.767000	0.54998	5.202000	0.47936	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.2865:0.7135	12.629	0.56003	697	0.58201	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	282.33	62	chr11	16791144	.	T	C	282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.321;DP=729;ExcessHet=0;FS=10.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=-1.111;SOR=0.103	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	17097170	17097170	C	G	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_001321380:exon26:c.G3073C:p.D1025H,PIK3C2A:NM_002645:exon27:c.G4213C:p.D1405H,PIK3C2A:NM_001321378:exon28:c.G4213C:p.D1405H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.0208303866156	.	0.000199681	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs553276138	1.918e-05	1.915e-05	2.181e-05	1.652e-05	0.0003	1.33e-05	1.145e-05	6.099e-05	2.524e-05	8.972e-05	2.236e-05	0	0	0	0.0003	1.891e-05	0	1.16e-05	1.97e-05	1.969e-05	2.571e-05	1.343e-05	4.813e-05	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	-0.2	0.66113	T	-5.26	0.84105	D	0.623	0.63798	-0.1107	0.79851	T	0.473	0.79737	T	10	0.7319663	0.74360	D	0.02083	0.43499	T	0.431	0.73735	.	.	0.883679240782	0.88254	0.7775629664714145	0.77706	0.676006828977	0.59743	0.765130579472	0.76695	T	0.797752	0.94810	D	0.0498957	0.58330	T	0.0197991	0.71617	D	0.924214124679565	0.58527	D	0.944506	0.78979	D	0.6937802	0.77717	0.7203396	0.83488	0.6937802	0.77718	0.7203396	0.83489	-7.383	0.56785	T	.	.	0.736	0.74464	P	.	.	4.941676	0.81561	27.6	0.99627724508869975	0.75837	0.99103	0.91270	D	AEFGBI	0.890411	0.82541	D	0.921498724781674	0.92771	11.61974	0.917764601450362	0.96300	14.53289	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.659	0.99629	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	35	chr11	17097170	.	C	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=779;ExcessHet=0;FS=3.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.375;SOR=0.973	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1468	18	0	1	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.02632	2164.33	33	chr11	17169343	.	A	C	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.588;DP=767;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.329;SOR=0.53	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr11	17356876	17356876	G	A	exonic	NCR3LG1	.	nonsynonymous SNV	NCR3LG1:NM_001202439:exon2:c.G296A:p.R99K	.	.	.	.	.	.	.	.	.	.	.	4037405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00547861008299	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749706676	6.576e-05	6.225e-05	7.704e-05	5.418e-05	7.879e-05	5.452e-05	5.05e-05	6.516e-05	6.003e-05	0	0	0	0	8.851e-05	0	7.879e-05	1.727e-05	2.524e-05	8.539e-05	8.536e-05	5.137e-05	0.0001	0.0002	4.956e-05	3.961e-05	0.0001	7.893e-05	0	0	0	0	0	9.407e-05	0	0.0002	0	0	0.655	0.04772	T	0.243	0.24193	T	0.013	0.16609	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	4.25	0.02564	T	-0.3	0.11913	N	0.043	0.01577	-0.9000	0.47993	T	0.005	0.01725	T	9	0.030959904	0.01227	T	0.005479	0.14106	T	0.034	0.08419	0.474	0.55020	0.0297737177859	0.01360	0.5103482713895219	0.50956	.	.	0.310848176479	0.12035	T	0.001471	0.00925	T	-0.589734	0.00168	T	-0.766816	0.02875	T	0.0328683954453753	0.02450	T	.	.	.	0.30986956	0.53775	0.08097794	0.18365	0.30986956	0.53775	0.08097794	0.18365	-3.762	0.20238	T	.	.	0.125	0.26263	B	.	.	1.660351	0.21177	15.08	0.62497151968310016	0.06978	0.01868	0.05758	N	AEFBI	0.026156	0.01914	N	-1.15166414444736	0.05753	0.2630765	-1.14995777553357	0.06768	0.3269349	0.778715914686349	0.23800	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.35	1.36	0.21139	0.220000	0.17445	0.272000	0.16669	0.618000	0.50648	0.011000	0.18532	0.000000	0.08366	0.406000	0.26916	0.2139:0.0:0.5872:0.1989	3.556	0.07417	557	0.71576	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	37	chr11	17356876	.	G	A	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.12;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr11	17372319	17372319	C	T	exonic	NCR3LG1	.	nonsynonymous SNV	NCR3LG1:NM_001202439:exon5:c.C1172T:p.T391I	.	425	1083	12	2	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00488030005192	.	0.00119808	0.0037	0	0	0	0	0.0007	0.0054	0.0064	0.000511	79	154602	rs370381456	0.0010	0.0009	0.0007	0.0013	0.0056	0.0010	0.0009	0.0051	0.0049	6.327e-05	0.0005	0.0004	0	0	0.0029	0.0005	0.0010	0.0056	0.0005	0.0005	0.0004	0.0006	0.0064	0.0004	0.0004	0.0047	0.0040	2.406e-05	0.0110	0.0007	0	0	0	0.0034	0.0003	0.0009	0.0064	0.003	0.68238	D	0.016	0.60972	D	0.777	0.44168	P	0.346	0.42645	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	5.6	0.00825	T	-0.58	0.17417	N	0.138	0.13626	-0.8411	0.52573	T	0.002	0.00707	T	8	0.0047205687	0.00099	T	0.00488	0.12255	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.14448512897661686	0.14371	.	.	0.587070822716	0.51081	T	0.018194	0.14708	T	-0.655287	0.00067	T	-0.711994	0.05193	T	0.0249316378608299	0.01264	T	.	.	.	0.10815722	0.25573	0.20119202	0.44087	0.10815722	0.25572	0.20119202	0.44086	-4.463	0.30401	T	.	.	0.173	0.37951	B	.	.	1.472394	0.18966	14.02	0.9660618329911157	0.30427	0.00209	0.01192	N	AEFBCI	0.027949	0.02374	N	-0.857621318209045	0.11863	0.574894	-1.03484384613952	0.09025	0.4467794	0.0637070176356901	0.15305	0.562547	0.31514	0	0.610034	0.51514	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	0.109	0.109	0.13884	0.204000	0.17133	0.469000	0.18693	0.234000	0.18175	0.137000	0.23458	0.499000	0.25194	0.164000	0.20782	.	.	.	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005236	0.000000	0.007576	0.000000	0.000000	0.000000	0.011628	0.026316	0.02632	2803.33	77	chr11	17372319	.	C	T	2803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.065;DP=1138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.711;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	18	0	1	0
chr11	17509602	17509602	G	T	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_153676:exon18:c.C1767A:p.S589R	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3549733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0307191930613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770217616	8.284e-06	1.163e-05	1.371e-05	2.781e-06	6.888e-05	4.42e-06	3.49e-06	1.827e-05	9.06e-06	0	6.888e-05	0	0	0	0	7.224e-06	1.666e-05	0	3.349e-05	3.304e-05	3.911e-05	2.755e-05	0.0002	1.279e-05	8.11e-06	5.452e-05	2.881e-05	0	0	0.0002	0	0	0	0	1.48e-05	0.0005	0	0.02	0.49613	D	0.269	0.22426	T	.	.	.	.	.	.	0.040209	0.24084	N	0.457002	1	0.08975	N	.	.	.	1.15	0.38236	T	-0.49	0.15578	N	0.391	0.43223	-1.1037	0.03672	T	0.051	0.21844	T	9	0.08960596	0.15535	T	0.030719	0.52967	D	0.114	0.32008	0.313	0.28774	0.0986583533028	0.09354	0.3032752642778567	0.30240	0.0765811414804	0.08593	0.465307801962	0.34037	T	.	.	.	-0.348727	0.04807	T	-0.50203	0.22137	T	0.106228064468018	0.13030	T	0.585041	0.21304	T	.	.	.	.	.	.	.	.	-4.732	0.33789	T	.	.	0.313	0.54004	B	.	.	0.121450	0.05188	1.703	0.89827364652304198	0.19136	0.02778	0.07482	N	AEFBI	0.122481	0.23764	N	-1.78776000484907	0.00576	0.02480123	-1.91013664272757	0.00467	0.02070012	0.999998615449103	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.44	-9.69	0.00438	-0.802000	0.04651	-0.648000	0.08043	-1.684000	0.00781	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1286:0.097:0.7744:0.0	19.044	0.92994	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2599.33	33	chr11	17509602	.	G	T	2599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=1896;ExcessHet=0;FS=7.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.089;SOR=0.711	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	18	0	1	0
chr11	17527313	17527313	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon5:c.C406T:p.R136W,USH1C:NM_005709:exon5:c.C406T:p.R136W,USH1C:NM_153676:exon5:c.C406T:p.R136W	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326732	not_specified|Inborn_genetic_diseases|Usher_syndrome_type_1C|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.527	0.253939305336	7.7e-05	0.000199681	7.432e-05	9.653e-05	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs368903400	3.492e-05	3.557e-05	4.36e-05	2.615e-05	0.0005	2.699e-05	2.44e-05	0.0001	7.56e-05	8.961e-05	8.944e-05	0	0.0001	0	0.0005	2.158e-05	0.0001	4.637e-05	7.246e-05	7.22e-05	5.152e-05	9.439e-05	0.0003	3.981e-05	3.135e-05	8.893e-05	5.397e-05	2.415e-05	0	0.0003	0	0.0002	0	0	5.89e-05	0.0005	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-7.12	0.94729	D	0.932	0.95021	-0.8348	0.52989	T	0.137	0.45394	T	10	0.80008686	0.79423	D	0.253939	0.89231	D	0.527	0.80007	.	.	0.780577928845	0.77855	0.6958418196185627	0.69525	0.395326890561	0.40677	0.797374606133	0.81563	T	0.261734	0.63324	T	0.0745486	0.61396	D	0.105976	0.77305	D	0.697272658348083	0.40589	D	0.979502	0.96302	D	0.8228303	0.85411	0.8433234	0.91059	0.87615687	0.89355	0.8281613	0.90066	-10.871	0.80376	D	.	.	0.710	0.77631	P	.;.;.;.;.	.;.;.;.;.	5.969471	0.94217	34	0.99909138878715587	0.97875	0.96252	0.68237	D	AEFDBI	0.948221	0.95961	D	0.838487428185637	0.88443	9.58029	0.768163898963396	0.87509	9.246023	0.999727808109063	0.42220	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	7.669000	0.82880	8.521000	0.77423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8411:0.1588	13.319	0.59862	740	0.53092	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1103.33	33	chr11	17527313	.	G	A	1103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.512;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.194;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	18	0	1	0
chr11	17531234	17531234	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon4:c.C307T:p.R103C,USH1C:NM_005709:exon4:c.C307T:p.R103C,USH1C:NM_153676:exon4:c.C307T:p.R103C	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	57177	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.831	0.410997395953	.	0.00119808	0.0010	0	0	0	0	0	0	0.0073	0.0008603	133	154602	rs397517880	0.0006	0.0006	0.0004	0.0008	0.0078	0.0005	0.0005	0.0074	0.0072	5.974e-05	0	0	0	0	0.0002	0.0001	0.0005	0.0078	0.0002	0.0002	2.57e-05	0.0004	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	1.47e-05	0	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.052082	1	0.81001	D	1.2	0.30300	L	1.64	0.27822	T	-7.38	0.95634	D	0.96	0.98368	-0.6886	0.60973	T	0.198	0.55329	T	10	0.022108346	0.00544	T	0.410997	0.93598	D	0.831	0.94653	0.781	0.90541	0.615802107288	0.61270	0.7661962857702276	0.76568	0.446580278172	0.44524	0.851669728756	0.89866	D	0.273201	0.64564	T	-0.120879	0.32980	T	0.0594204	0.74206	D	0.173738843397744	0.18831	T	0.970403	0.96942	D	0.91356033	0.92629	0.6833929	0.81388	0.8436937	0.86875	0.7175608	0.83328	-13.486	0.93156	D	.	.	0.770	0.77702	P	.;.;.;.;.	.;.;.;.;.	5.638769	0.92727	33	0.99931457419198078	0.99387	0.91951	0.54617	D	AEFDBI	0.889622	0.82387	D	0.572590149419844	0.71468	5.655404	0.489922481798543	0.67320	5.068336	0.999999564476807	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.39	4.45	0.53365	4.765000	0.61968	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6951:0.3049	12.412	0.54810	712	0.56465	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3037.33	263	chr11	17531234	.	G	A	3037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=933;ExcessHet=0;FS=4.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.125;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	18	0	1	0
chr11	17555792	17555792	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon6:c.C590T:p.P197L,OTOG:NM_001292063:exon7:c.C554T:p.P185L	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3500029	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.115720299372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189025785	2.36e-05	2.394e-05	2.4e-05	2.32e-05	0.0001	1.684e-05	1.481e-05	4.248e-05	2.584e-05	0.0001	2.801e-05	0	0	0	0	2.224e-05	5.173e-05	1.262e-05	6.571e-05	6.567e-05	6.424e-05	6.725e-05	0.0001	3.517e-05	2.616e-05	6.284e-05	4.3e-05	0.0001	0	6.543e-05	0	0	0	0	2.94e-05	0.0005	0	0.019	0.50132	D	0.005	0.72224	D	.	.	.	.	.	.	0.002254	0.36929	U	0.108147	0.99589	0.42910	D	2.62	0.76659	M	0.26	0.59314	T	-8.5	0.97298	D	0.17	0.21710	-0.7893	0.55770	T	0.234	0.60112	T	8	0.24854943	0.42153	T	0.11572	0.79498	D	0.270	0.58507	0.564	0.68499	0.598875534596	0.59568	0.41256527849039054	0.41172	.	.	0.49841684103	0.38607	T	0.239727	0.60791	T	-0.25595	0.13378	T	-0.350385	0.39162	T	0.980229258537292	0.73245	D	0.923208	0.72041	D	0.22492789	0.45144	0.19380552	0.42969	0.22492789	0.45144	0.19380552	0.42968	-1.728	0.02304	T	.	.	0.079	0.07224	B	.;.	.;.	2.704438	0.35333	19.87	0.99680382655869781	0.79241	0.13246	0.17747	N	AEFDGBI	0.081142	0.16416	N	-0.136352318108603	0.35817	2.062185	-0.190976274838524	0.31866	1.807511	0.0337455960796927	0.14120	0.446893	0.09132	0	0.563428	0.19063	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.29	3.31	0.37025	0.682000	0.25015	3.277000	0.37202	0.599000	0.40250	0.193000	0.24225	0.998000	0.33993	0.361000	0.25909	0.0:0.613:0.2946:0.0923	7.043	0.24212	764	0.49969	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	963.33	37	chr11	17555792	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=736;ExcessHet=0;FS=4.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.465;SOR=0.351	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr11	17578424	17578424	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon22:c.C2693T:p.T898M,OTOG:NM_001292063:exon23:c.C2657T:p.T886M	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	492270	OTOG-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_18B|not_provided	.|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0660167127806	.	0.000399361	0.0002	0.0025	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs113688475	0.0001	0.0001	0.0001	9.923e-05	0.0033	0.0001	0.0001	0.0028	0.0026	0.0033	8.416e-05	0	0	0	0.0009	3.523e-05	0.0002	0.0001	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	2.94e-05	0.0009	0	0.118	0.28148	T	0.087	0.40909	T	.	.	.	.	.	.	0.629129	0.10704	U	0.763019	1	0.18878	N	0.345	0.11182	N	2.28	0.17271	T	-1.21	0.30762	N	0.085	0.07262	-0.9810	0.34771	T	0.025	0.10464	T	8	0.006717056	0.00152	T	0.066017	0.69750	D	0.075	0.21907	.	.	0.141422826196	0.13715	0.2662719851466724	0.26540	.	.	0.296312749386	0.09853	T	0.077149	0.35587	T	-0.703993	0.00035	T	-0.784534	0.02320	T	0.00813463920493105	0.00097	T	0.580242	0.21138	T	0.019522058	0.00484	0.03664553	0.03152	0.019522058	0.00484	0.03664553	0.03151	-5.244	0.39386	T	.	.	0.078	0.08272	B	.;.	.;.	1.399886	0.18135	13.57	0.87090808757757066	0.16982	0.10309	0.15851	N	AEFDBI	0.107189	0.21364	N	-0.838973108262176	0.12322	0.5999371	-0.855621805514375	0.13152	0.6807532	0.333081787315662	0.19505	0.487112	0.14033	0	0.59043	0.45803	0	0.507541	0.09363	1	0.564101	0.26826	0	.	.	5.79	3.94	0.44807	1.831000	0.38781	0.040000	0.13855	-0.919000	0.02208	0.003000	0.16062	0.000000	0.08366	0.053000	0.15439	0.0:0.7695:0.0:0.2305	8.481	0.32201	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4335.81	35	chr11	17578424	.	C	T	4335.81	.	AC=2;AF=0.053;AN=38;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.1;SOR=0.908	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1334	18	1	0	0
chr11	17645578	17645578	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon54:c.C8512T:p.R2838C,OTOG:NM_001292063:exon55:c.C8476T:p.R2826C	Deafness, autosomal recessive 18B, Autosomal recessive	8	1501	13	0	0	13	0.00431177	.	.	.	215430	OTOG-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.177	.	.	0.000599042	0.0021	0	0.0035	0	0.0022	0.0040	0.0119	0.0009	0.0005563	86	154602	rs191662816	0.0026	0.0025	0.0027	0.0025	0.0051	0.0025	0.0025	0.0036	0.0032	0.0003	0.0009	0.0052	0.0006	0.0017	0.0051	0.0028	0.0021	0.0024	0.0021	0.0021	0.0022	0.0020	0.0031	0.0019	0.0018	0.0028	0.0027	0.0003	0.0318	0.0006	0.0043	0.0002	0.0023	0	0.0031	0.0019	0.0025	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.007406	0.31413	U	0.113154	0.993055	0.41822	D	1.585	0.39878	L	2.29	0.17113	T	-6.23	0.90490	D	0.438	0.47672	-1.1392	0.01388	T	0.038	0.16505	T	8	0.008724064	0.00198	T	.	.	.	0.177	0.44549	.	.	0.519351293798	0.51580	0.5392584237348957	0.53850	.	.	0.621142864227	0.55890	T	0.366961	0.73212	T	-0.383135	0.02976	T	-0.326488	0.41858	T	0.0740020094112973	0.09202	T	0.960654	0.85651	D	0.44558603	0.63761	0.3040868	0.56438	0.47643542	0.65684	0.3320875	0.59060	-9.597	0.71461	D	.	.	0.831	0.79479	P	.;.	.;.	5.740975	0.93331	33	0.9989847500648793	0.97124	0.93611	0.58692	D	AEFDBI	0.788657	0.71808	D	0.288032255894726	0.55541	3.718164	0.351293237660751	0.58585	4.029976	0.916407093892662	0.26512	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.09	3.0	0.33773	4.918000	0.63075	3.892000	0.40300	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3203:0.6797:0.0:0.0	11.458	0.49437	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2334.81	37	chr11	17645578	.	C	T	2334.81	.	AC=2;AF=0.053;AN=38;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.84;SOR=2.269	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	18	1	0	0
chr11	17788332	17788332	G	A	exonic	SERGEF	.	nonsynonymous SNV	SERGEF:NM_012139:exon11:c.C1130T:p.P377L	.	.	.	.	.	.	.	.	.	.	.	2346205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0321563231937	0.0002	0.000399361	0.0003	0	0	0	0	0.0001	0.0011	0.0013	0.0002393	37	154602	rs147331551	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0007	5.974e-05	0	0	2.519e-05	0	0.0005	0.0002	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0008	9.143e-05	7.699e-05	0.0003	0.0002	4.813e-05	0	0	0	0	0	0	0.0002	0.0009	0.0008	1.0	0.00964	T	0.488	0.11621	T	0.832	0.46138	P	0.242	0.38699	B	0.000206	0.47681	D	0.184175	0.975672	0.81001	D	0.295	0.10161	N	-1.76	0.83578	D	-1.83	0.42957	N	0.153	0.15749	-1.0236	0.22541	T	0.097	0.36393	T	10	0.037885785	0.02171	T	0.032156	0.54058	D	0.284	0.60219	.	.	0.772208786841	0.77012	0.4255861909354479	0.42475	0.204057146154	0.22819	0.399105548859	0.24944	T	0.072282	0.34416	T	-0.286624	0.09977	T	-0.24084	0.50716	T	0.0803160177112189	0.10027	T	0.738626	0.35686	T	0.070320494	0.15478	0.08472679	0.19511	0.070320494	0.15478	0.08472679	0.19510	-7.791	0.59637	D	.	.	0.096	0.15160	B	.	.	2.653173	0.34548	19.66	0.13060294935874631	0.00246	0.84727	0.43814	D	AEFBI	0.187957	0.31524	N	-0.109764132825815	0.36967	2.144056	-0.0503603756555898	0.37474	2.194671	0.99673959071958	0.34966	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.41	4.49	0.54177	3.380000	0.52180	6.700000	0.56368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.284000	0.24115	0.0722:0.0:0.9278:0.0	14.408	0.66663	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1862.33	41	chr11	17788332	.	G	A	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=827;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=3.09;SOR=0.505	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1876,0,1987	18	0	1	0
chr11	18282050	18282050	G	A	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon21:c.C2887T:p.R963W,HPS5:NM_181508:exon21:c.C2887T:p.R963W,HPS5:NM_181507:exon22:c.C3229T:p.R1077W	Hermansky-Pudlak syndrome 5	0	1521	1	0	0	1	0.000328623	.	.	.	313472	not_specified|Hermansky-Pudlak_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	.	7.7e-05	0.00419329	0.0017	0	8.639e-05	0.0201	0.0006	0.0002	0.0011	0.0008	0.0016753	259	154602	rs75482179	0.0009	0.0009	0.0009	0.0009	0.0251	0.0009	0.0008	0.0238	0.0233	0	8.944e-05	0.0010	0.0251	0.0006	0.0005	0.0001	0.0010	0.0006	0.0009	0.0009	0.0008	0.0010	0.0184	0.0007	0.0007	0.0154	0.0143	0	0	0	0.0003	0.0184	0.0005	0	0.0003	0.0009	0.0012	0.004	0.65419	D	0.01	0.83351	D	0.998	0.73220	D	0.721	0.54900	P	0.004266	0.33923	N	0.317591	0.910428	0.36396	D	1.7	0.43825	L	0.36	0.58323	T	-2.25	0.72120	N	0.576	0.66529	-0.8071	0.54725	T	0.121	0.42144	T	10	0.008871615	0.00201	T	.	.	.	0.236	0.53931	.	.	0.69811077665	0.69550	0.46225885507123715	0.46143	0.302183612362	0.32546	0.402786582708	0.25457	T	0.283685	0.65645	T	-0.325555	0.06453	T	-0.225477	0.52209	T	0.0686489491330823	0.08461	T	0.940106	0.79612	D	0.11163529	0.26380	0.13460076	0.32248	0.11930509	0.28094	0.10209527	0.24459	-6.561	0.50755	T	.	.	0.120	0.27968	B	.;.;.;.	.;.;.;.	4.571919	0.72147	25.8	0.99926246818218079	0.99103	0.90244	0.51267	D	AEFDBI	0.383293	0.46485	N	0.414935874607903	0.62242	4.437061	0.400654842585439	0.61604	4.363047	0.98667884752673	0.31105	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.82	3.9	0.44240	3.541000	0.53373	4.326000	0.43013	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0766:0.0:0.7766:0.1468	9.186	0.36333	673	0.60677	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1731.33	33	chr11	18282050	.	G	A	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=802;ExcessHet=0;FS=0.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-2.392;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr11	18396909	18396909	A	G	exonic	LDHA	.	nonsynonymous SNV	LDHA:NM_001135239:exon2:c.A67G:p.I23V,LDHA:NM_001165414:exon2:c.A154G:p.I52V,LDHA:NM_001165415:exon2:c.A67G:p.I23V,LDHA:NM_001165416:exon2:c.A67G:p.I23V,LDHA:NM_005566:exon2:c.A67G:p.I23V	Glycogen storage disease XI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0105569091806	.	.	8.242e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs759849879	5.473e-06	5.472e-06	5.446e-06	5.501e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	2.698e-06	0	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.08212	T	0.8	0.35840	T	0.002	0.09854	B	0.03	0.21741	B	0.000004	0.62929	D	0.062009	0.99981	0.51042	D	-0.24	0.03895	N	-1.99	0.85320	D	-0.21	0.21215	N	0.17	0.21580	-0.5926	0.65117	T	0.333	0.70018	T	10	0.27740136	0.45306	T	0.010557	0.27238	T	0.258	0.56959	0.613	0.74652	0.830658744853	0.82905	0.46882524235023854	0.46801	0.418581757671	0.42443	0.532580852509	0.43398	T	0.530902	0.83765	D	-0.0991746	0.36562	T	-0.17758	0.56746	T	0.227413445711136	0.21828	T	0.922608	0.75597	D	0.16523957	0.36783	0.13670403	0.32695	0.16523957	0.36783	0.13670403	0.32694	-3.607	0.31408	T	.	.	0.106	0.34797	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.285778	0.45040	22.1	0.96734357027286322	0.30899	0.93704	0.58953	D	AEFBCI	0.836780	0.75450	D	-0.197661886855475	0.33231	1.882991	0.0413492158946268	0.41656	2.506268	0.999999993815256	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.02	5.02	0.66742	7.485000	0.80221	9.364000	0.80397	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.205	0.72862	649	0.63102	Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.;.;Lactate/malate dehydrogenase, N-terminal;.;Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.;Lactate/malate dehydrogenase, N-terminal;Lactate/malate dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	34	chr11	18396909	.	A	G	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=802;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.613;SOR=0.568	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1273	18	0	1	0
chr11	18475640	18475640	G	A	splicing	LDHAL6A	NM_001144071:exon5:c.592+1G>A;NM_144972:exon4:c.592+1G>A	.	.	.	422	1095	5	0	0	5	0.0022779	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000399361	0.0009	0.0004	0.0007	0.0001	0	0.0014	0	0.0004	0.0011061	171	154602	rs145833201	0.0017	0.0017	0.0017	0.0017	0.0033	0.0016	0.0016	0.0022	0.0019	0.0003	0.0009	0.0005	5.047e-05	0.0001	0.0033	0.0020	0.0020	0.0005	0.0011	0.0011	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0005	0	0.0006	0.0003	0	0	0.0034	0.0021	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0554217	0.43619	T	0.141447	0.79639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.943431	0.57716	23.9	0.99468149053318733	0.66207	0.95002	0.63082	D	AEFBI	.	.	.	0.867474965530541	0.90079	10.24391	0.633787868114532	0.77410	6.673676	0.998933086992191	0.38009	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.089874	0.02613	0	0.857846	0.52491	3.57	3.57	0.40014	5.907000	0.69646	1.008000	0.23311	0.618000	0.50648	1.000000	0.71638	0.957000	0.29195	0.847000	0.40026	0.0:0.0:1.0:0.0	13.006	0.58111	653	0.62661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1222.33	34	chr11	18475640	.	G	A	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=744;ExcessHet=0;FS=3.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.911;SOR=0.417	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	18706913	18706913	C	T	splicing	IGSF22	NM_173588:exon21:c.3580+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351937356	1.333e-05	1.368e-05	5.784e-06	2.125e-05	0.0003	8.33e-06	6.87e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0003	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0189029	0.49010	T	-0.00988331	0.69693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.694043	0.75243	26.3	0.99227538228731671	0.56120	0.86455	0.45739	D	ALL	.	.	.	0.783630036272863	0.85071	8.468231	0.530041781361945	0.70023	5.444297	0.999999999855861	0.74766	0.162408	0.03677	1	0.102296	0.03086	2	0.10224	0.03073	0	0.166187	0.04126	0	0.968944	0.71292	3.77	3.77	0.42499	4.544000	0.60401	2.779000	0.34722	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.288000	0.24212	0.0:1.0:0.0:0.0	13.889	0.63231	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	33	chr11	18706913	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=686;ExcessHet=0;FS=5.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.524;SOR=1.391	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	18	0	1	0
chr11	18707044	18707046	GAA	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon21:c.3448_3450del:p.F1150del	.	427	1082	12	1	0	14	0.00642792	.	.	.	2816511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.000599042	0.0023	0	0.0025	0	0	0.0035	0.0053	0.0018	0.0005757	89	154602	rs543347161	0.0026	0.0025	0.0026	0.0026	0.0056	0.0025	0.0025	0.0041	0.0036	0.0004	0.0017	0.0069	0	0.0004	0.0056	0.0028	0.0030	0.0017	0.0018	0.0018	0.0019	0.0018	0.0028	0.0017	0.0016	0.0025	0.0024	0.0004	0	0.0016	0.0066	0.0002	0.0005	0.0034	0.0028	0.0033	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001266	0.000000	0.000000	0.000000	0.000000	0.000000	0.006410	0.000000	0.05263	4621.77	33	chr11	18707043	.	TGAA	T	4621.77	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.58;SOR=0.921	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	18	1	0	0
chr11	18718721	18718721	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon8:c.G704A:p.R235Q	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0077	0.00299521	0.0057	0.0016	0.0038	0.0001	0.0020	0.0088	0.0091	0.0013	0.0056597	875	154602	rs74743312	0.0071	0.0072	0.0073	0.0069	0.0079	0.0070	0.0069	0.0078	0.0077	0.0013	0.0043	0.0258	5.053e-05	0.0016	0.0045	0.0079	0.0076	0.0014	0.0061	0.0061	0.0066	0.0057	0.0079	0.0058	0.0057	0.0074	0.0072	0.0017	0.1557	0.0048	0.0184	0.0002	0.0011	0.0068	0.0079	0.0080	0.0023	0.162	0.23541	T	0.185	0.28958	T	.	.	.	.	.	.	0.073144	0.21364	N	0.237042	1	0.08975	N	.	.	.	0.73	0.50721	T	-1.61	0.38734	N	0.115	0.10340	-1.0561	0.12750	T	0.059	0.24871	T	10	0.002345264	0.00035	T	.	.	.	0.091	0.26358	.	.	0.412715890961	0.40891	0.1259008563187276	0.12516	0.260319576292	0.28604	0.223542779684	0.01524	T	.	.	.	-0.538032	0.00344	T	-0.539649	0.18331	T	0.0124066226192968	0.00203	T	0.714029	0.32612	T	.	.	.	.	.	.	.	.	-4.765	0.34180	T	.	.	0.162	0.35767	B	.	.	2.004369	0.25467	16.77	0.99503519358242176	0.68206	0.02973	0.07818	N	AEFBI	0.077642	0.15648	N	-0.260157747911556	0.30700	1.71426	-0.277269570089191	0.28848	1.611686	4.71335904190054E-5	0.03989	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.09	3.21	0.35933	-0.023000	0.12403	0.128000	0.15008	0.549000	0.26987	0.195000	0.24249	0.513000	0.25267	0.996000	0.76049	0.0:0.7168:0.0:0.2832	7.069	0.24348	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.025253	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	2005.83	35	chr11	18718721	.	C	T	2005.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=723;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.932;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	17	0	2	0
chr11	18718722	18718722	G	A	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon8:c.C703T:p.R235W	.	429	1092	1	0	0	1	0.000457666	.	.	.	3274616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0363159490856	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0011	0	6.693e-05	0.0007827	121	154602	rs201466035	0.0014	0.0014	0.0015	0.0013	0.0017	0.0013	0.0013	0.0017	0.0016	0.0002	0.0005	0	0	7.492e-05	0.0007	0.0017	0.0008	0.0001	0.0008	0.0008	0.0010	0.0005	0.0015	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0005	0	0	0	0	0.0015	0.0005	0	0.066	0.36113	T	0.114	0.36765	T	.	.	.	.	.	.	0.073144	0.21364	U	0.237042	1	0.08975	N	.	.	.	0.61	0.53516	T	-3.63	0.69714	D	0.287	0.32481	-0.9177	0.45864	T	0.191	0.54286	T	10	0.023154378	0.00598	T	0.036316	0.56913	D	0.146	0.38789	.	.	0.502443086328	0.49881	0.3024133076887293	0.30154	0.706987716141	0.61471	0.276000022888	0.06940	T	.	.	.	-0.443526	0.01233	T	-0.407536	0.32509	T	0.0720281867255551	0.08934	T	0.824218	0.48580	T	.	.	.	.	.	.	.	.	-9.231	0.69172	D	.	.	0.547	0.66670	A	.	.	2.958436	0.39386	21.0	0.997923491844244	0.87839	0.06633	0.12650	N	AEFBI	0.270426	0.38649	N	-0.172799429620857	0.34271	1.954081	-0.323767700222561	0.27334	1.51595	1.23087977154814E-5	0.02871	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.16	-0.237	0.12417	0.232000	0.17670	0.823000	0.21872	-0.244000	0.07312	0.230000	0.24643	0.671000	0.26067	0.995000	0.73285	0.2457:0.0:0.3295:0.4248	3.840	0.08422	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	792.33	35	chr11	18718722	.	G	A	792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=704;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.578;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	18	0	1	0
chr11	19055676	19055676	A	G	exonic	MRGPRX2	.	nonsynonymous SNV	MRGPRX2:NM_054030:exon2:c.T727C:p.W243R,MRGPRX2:NM_001303615:exon3:c.T727C:p.W243R	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00449831866982	0.0043	0.00139776	0.0033	0.0009	0.0022	0	0.0005	0.0053	0.0011	0.0005	0.003454	534	154602	rs150365137	0.0053	0.0053	0.0053	0.0052	0.0064	0.0052	0.0051	0.0062	0.0062	0.0009	0.0023	0.0051	0	0.0008	0.0035	0.0064	0.0038	0.0006	0.0035	0.0035	0.0037	0.0032	0.0056	0.0032	0.0031	0.0051	0.0049	0.0015	0	0.0032	0.0040	0	0.0008	0.0034	0.0056	0.0047	0.0004	0.016	0.51853	D	0.036	0.52060	D	0.76	0.43524	P	0.468	0.46719	P	0.003929	0.34318	N	0.136197	1	0.08975	N	2.425	0.70256	M	1.31	0.35405	T	-10.13	0.98888	D	0.375	0.41656	-1.0190	0.24041	T	0.067	0.27640	T	10	0.011009783	0.00242	T	0.004498	0.11063	T	0.115	0.32236	0.675	0.81299	0.187945064343	0.18414	0.527254929087022	0.52649	0.325657707358	0.34714	0.257886528969	0.04643	T	0.037274	0.24416	T	-0.452719	0.01088	T	-0.421157	0.30942	T	0.06922596393841	0.08542	T	0.0106989	0.00059	T	0.48203486	0.66023	0.40557894	0.64954	0.48203486	0.66024	0.40557894	0.64954	-7.503	0.57631	D	.	.	0.634	0.70272	P	.	.	2.312745	0.29604	18.18	0.66292496617728691	0.08016	0.03515	0.08696	N	AEFBI	0.036726	0.04940	N	-0.531263243908647	0.21076	1.115807	-0.757353633003327	0.15542	0.8178813	3.03709633353647E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.92	-2.53	0.05959	-0.048000	0.11898	-1.835000	0.04640	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.4327:0.2378:0.0:0.3295	5.747	0.17392	872	0.31118	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.050000	0.017241	0.003049	0.007576	0.02632	1525.33	34	chr11	19055676	.	A	G	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=798;ExcessHet=0;FS=12.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.655;SOR=0.933	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1391	18	0	1	0
chr11	19225463	19225463	G	C	exonic	E2F8	.	nonsynonymous SNV	E2F8:NM_001256371:exon12:c.C2179G:p.Q727E,E2F8:NM_001256372:exon12:c.C2179G:p.Q727E,E2F8:NM_024680:exon12:c.C2179G:p.Q727E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00682669135762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.22920	T	0.507	0.10930	T	0.85	0.46913	P	0.37	0.43538	B	0.002551	0.36353	N	0.302380	0.648298	0.81001	D	1.995	0.54099	M	2.14	0.19450	T	-0.43	0.14390	N	0.442	0.48042	-0.9356	0.43303	T	0.061	0.25383	T	10	0.16369957	0.30645	T	0.006827	0.18065	T	0.097	0.27909	0.113	0.02240	0.171220215726	0.16700	0.492715480815806	0.49192	0.214305633905	0.23962	0.404561787844	0.25703	T	0.170917	0.51884	T	-0.122845	0.32661	T	-0.414235	0.31738	T	0.410042554140091	0.29319	T	0.763224	0.38939	T	0.055926528	0.10935	0.048248716	0.07126	0.055926528	0.10935	0.048248716	0.07126	-6.214	0.48036	T	.	.	0.086	0.10883	B	.;.;.	.;.;.	2.406737	0.30930	18.59	0.97522032654932145	0.34411	0.97922	0.78147	D	AEFDBI	0.665499	0.63429	D	0.153040239706733	0.48955	3.101548	0.195100717446692	0.49578	3.159294	0.999929520855767	0.46280	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.98	5.08	0.68373	3.460000	0.52793	9.948000	0.82707	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1416:0.0:0.8584:0.0	11.194	0.47928	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4846.83	39	chr11	19225463	.	G	C	4846.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.508;DP=945;ExcessHet=0.119;FS=3.601;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.868;SOR=0.885	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1204	17	0	2	0
chr11	19713721	19713721	A	C	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001244963:exon1:c.A26C:p.K9T,NAV2:NM_145117:exon1:c.A26C:p.K9T,NAV2:NM_182964:exon1:c.A26C:p.K9T	.	392	1129	1	0	0	1	0.000442674	.	.	.	2850565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0207337192951	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288286466	1.47e-05	1.436e-05	8.293e-06	2.126e-05	0.0002	9.44e-06	8.02e-06	3.061e-05	2.081e-05	0	0	0	0	0	0.0002	1.283e-05	0	7.141e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	0.919	0.50927	P	0.501	0.47677	P	0.000014	0.62929	D	0.000000	0.999966	0.81001	D	0.975	0.24501	L	1.56	0.30133	T	-1.48	0.36189	N	0.511	0.58883	-1.1199	0.02338	T	0.068	0.27980	T	9	0.2297703	0.39913	T	0.020734	0.43381	T	0.134	0.36365	0.309	0.28128	0.0675242888579	0.06100	0.3857806026882216	0.38493	0.720202508775	0.62165	0.898564517498	0.96279	D	0.029335	0.49230	T	-0.119786	0.33158	T	-0.304555	0.44242	T	0.64015529076363	0.38044	D	0.848415	0.55036	T	0.48390844	0.66137	0.54849243	0.73897	0.48390844	0.66137	0.54849243	0.73897	-4.736	0.34216	T	.	.	0.541	0.68495	A	.;.;.;.;.	.;.;.;.;.	4.593367	0.72674	25.9	0.99703111507599718	0.80798	0.92412	0.55652	D	AEDBHCI	0.782765	0.71395	D	0.368790931822648	0.59739	4.155796	0.453121451721823	0.64918	4.758394	0.999999999995965	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	5.37	5.37	0.76949	6.370000	0.73050	11.171000	0.87970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.044	0.71475	886	0.28090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1081.33	34	chr11	19713721	.	A	C	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=695;ExcessHet=0;FS=2.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.349;SOR=1.085	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1095,0,719	18	0	1	0
chr11	20103261	20103261	C	T	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon23:c.C3616T:p.R1206C,NAV2:NM_145117:exon33:c.C6424T:p.R2142C,NAV2:NM_182964:exon33:c.C6433T:p.R2145C,NAV2:NM_001111018:exon34:c.C6232T:p.R2078C,NAV2:NM_001244963:exon35:c.C6601T:p.R2201C	.	420	1098	4	0	0	4	0.00181818	.	.	.	3211184	NAV2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.676	0.2297214325	0.0025	0.000599042	0.0021	0.0006	0.0009	0	0.0003	0.0034	0	0.0004	0.0021733	336	154602	rs34329467	0.0038	0.0038	0.0038	0.0037	0.0047	0.0037	0.0037	0.0046	0.0045	0.0003	0.0012	0	0	0.0004	0.0003	0.0047	0.0028	0.0004	0.0022	0.0022	0.0022	0.0022	0.0041	0.0020	0.0019	0.0037	0.0035	0.0007	0.0011	0.0012	0	0	0.0004	0	0.0041	0.0014	0	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	1	0.81001	D	3.12	0.87914	M	-2.47	0.88997	D	-5.86	0.88561	D	0.866	0.88909	0.780	0.94170	D	0.838	0.94575	D	9	0.08301404	0.13765	T	0.229721	0.88197	D	0.676	0.88061	.	.	0.922064195874	0.92127	0.7286376070481035	0.72807	1.46418215405	0.86425	0.800207853317	0.81995	T	0.245953	0.91428	T	0.133413	0.67692	D	0.418342	0.92691	D	0.0907011205255013	0.11301	T	0.954105	0.82551	D	0.48775038	0.66369	0.46195176	0.68758	0.48775038	0.66369	0.46195176	0.68758	-12.044	0.85262	D	.	.	0.301	0.70235	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.198950	0.87212	29.2	0.99929082970476801	0.99279	0.97604	0.75845	D	AEFDBI	0.904028	0.85384	D	0.79474385665789	0.85775	8.678075	0.761417282493961	0.87010	9.075942	0.99999999855991	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	6.036000	0.70590	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:1.0:0.0:0.0	19.210	0.93735	843	0.36859	.;.;AAA+ ATPase domain;AAA+ ATPase domain;.;AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2188.33	33	chr11	20103261	.	C	T	2188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=800;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.482;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1334	18	0	1	0
chr11	20156342	20156342	C	T	exonic	DBX1	.	nonsynonymous SNV	DBX1:NM_001029865:exon4:c.G904A:p.D302N	.	406	1106	10	0	0	10	0.00450045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	0.0055	0.00359425	0.0049	0.0019	0.0022	0	0.0024	0.0068	0.0078	0.0049	0.0045472	703	154602	rs61732858	0.0081	0.0080	0.0082	0.0079	0.0096	0.0079	0.0079	0.0094	0.0093	0.0015	0.0024	8.118e-05	0	0.0027	0.0030	0.0096	0.0077	0.0038	0.0050	0.0050	0.0055	0.0045	0.0083	0.0047	0.0046	0.0077	0.0075	0.0017	0.0022	0.0047	0	0.0002	0.0024	0	0.0083	0.0052	0.0039	0.015	0.52492	D	0.235	0.24767	T	.	.	.	.	.	.	0.016238	0.28032	N	0.297294	0.567636	0.32266	D	1.52	0.38360	L	-2.7	0.90509	D	-0.77	0.21429	N	0.242	0.27316	0.361	0.88509	D	0.575	0.84658	D	10	0.0057388544	0.00128	T	.	.	.	0.191	0.46948	.	.	0.943719225583	0.94312	0.18029075501156175	0.17948	.	.	0.595718979836	0.52300	T	0.039174	0.25099	T	-0.432373	0.01434	T	-0.386031	0.35017	T	0.0289036193510652	0.01823	T	0.635136	0.24942	T	0.14899398	0.33989	0.14180402	0.33757	0.14899398	0.33989	0.14180402	0.33756	-5.179	0.38728	T	.	.	0.090	0.12797	B	.	.	3.978908	0.58476	24.0	0.99832354534946666	0.91370	0.98053	0.79201	D	AEFBI	0.527134	0.54920	D	0.195677941787636	0.50992	3.284092	0.192290326259138	0.49422	3.145715	0.999999999954946	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.92	4.92	0.64147	2.790000	0.47512	4.767000	0.44750	0.599000	0.40250	0.574000	0.27538	0.997000	0.33255	0.708000	0.34389	0.0:1.0:0.0:0.0	17.735	0.88298	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	898.33	34	chr11	20156342	.	C	T	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.28;DP=702;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.561;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	20392933	20392933	C	G	exonic	PRMT3	.	nonsynonymous SNV	PRMT3:NM_001145166:exon3:c.C148G:p.P50A,PRMT3:NM_001145167:exon4:c.C103G:p.P35A,PRMT3:NM_005788:exon5:c.C334G:p.P112A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0119585477478	.	0.000998403	0.0006	9.612e-05	0	0.0001	0	0	0	0.0043	0.0005239	81	154602	rs534730953	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	2.524e-05	0	0	0	0.0001	0.0044	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	1.471e-05	0.0005	0.0050	0.291	0.37118	T	0.32	0.25987	T	0.2	0.56768	B	0.129	0.58006	B	0.002693	0.36102	N	0.265651	1	0.81001	D	1.605	0.40863	L	1.03	0.40469	T	-2.45	0.53577	N	0.317	0.37717	-0.9779	0.35481	T	0.182	0.52980	T	10	0.007519841	0.00171	T	0.011959	0.30096	T	0.147	0.38986	0.353	0.35246	0.748258088811	0.74598	0.24752628842280425	0.24666	0.112548950937	0.12707	0.517473816872	0.41271	T	0.233448	0.60025	T	-0.293803	0.09258	T	-0.1944	0.55176	T	0.0813290418041614	0.10157	T	0.835916	0.54393	T	0.09702844	0.22865	0.16534849	0.38257	0.09702844	0.22865	0.16534849	0.38256	-3.174	0.12250	T	.	.	0.078	0.14568	B	.;.	.;.	3.415879	0.47403	22.5	0.994104423857608	0.63263	0.98292	0.81328	D	AEFBI	0.377445	0.46121	N	0.276713306121948	0.54969	3.661563	0.37533442780586	0.60048	4.18824	0.999858960114573	0.44174	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	2.814000	0.47709	4.900000	0.45850	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.542	0.95271	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	856.33	33	chr11	20392933	.	C	G	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.112;DP=675;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.528;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	18	0	1	0
chr11	21573350	21573350	C	T	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon18:c.C2152T:p.R718W,NELL1:NM_201551:exon18:c.C2182T:p.R728W,NELL1:NM_006157:exon19:c.C2323T:p.R775W,NELL1:NM_001288713:exon20:c.C2407T:p.R803W	.	416	1105	1	0	0	1	0.000452284	.	.	.	2210746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.260135801733	0.0005	.	0.0003	0	0	0.0001	0	0.0005	0	0	0.0002523	39	154602	rs140760341	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0009	0.0001	8.962e-05	3.836e-05	0	3.744e-05	0.0021	0.0005	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	9.67e-05	0	0.0001	0	0	0	0	0.0005	0.0010	0	0.001	0.78490	D	0.029	0.63109	D	0.999	0.90584	D	0.855	0.80445	P	0.000711	0.42254	D	0.196102	0.759051	0.35044	D	2.34	0.67151	M	-1.27	0.80474	T	-2.86	0.61580	D	0.879	0.90025	0.152	0.85085	D	0.580	0.84894	D	10	0.7619118	0.76411	D	0.260136	0.89473	D	0.446	0.74797	.	.	0.838089715052	0.83655	0.8842450634903904	0.88392	0.425612778913	0.42963	0.568705797195	0.48494	T	0.181808	0.81534	T	-0.169648	0.25287	T	-0.161454	0.58222	T	0.400343686342239	0.28955	T	0.965803	0.88094	D	0.14413977	0.33098	0.131784	0.31637	0.14413977	0.33098	0.131784	0.31636	-8.788	0.68645	D	.	.	0.177	0.47816	B	.;.;.;.	.;.;.;.	4.710689	0.75672	26.4	0.99813070705478102	0.89708	0.92765	0.56491	D	AEFI	0.550652	0.56304	D	-0.219745642162089	0.32325	1.821739	-0.318793994109712	0.27492	1.525883	2.03393906443538E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.73	1.84	0.24348	2.726000	0.46973	4.494000	0.43583	-0.045000	0.17359	0.976000	0.34826	0.999000	0.35428	0.103000	0.18424	0.4984:0.4354:0.0662:0.0	10.408	0.43459	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1287.33	34	chr11	21573350	.	C	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.622;SOR=0.763	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1372	18	0	1	0
chr11	22625254	22625254	G	A	exonic	FANCF	.	nonsynonymous SNV	FANCF:NM_022725:exon1:c.C557T:p.A186V	Fanconi anemia, complementation group F	0	1443	79	0	0	79	0.0266442	.	.	.	138088	not_specified|Fanconi_anemia_complementation_group_F|Malignant_tumor_of_breast|Fanconi_anemia|not_provided|Hereditary_cancer-predisposing_syndrome|Ovarian_cancer	MedGen:CN169374|MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0057	0.00519169	0.0091	0.0011	0.0056	0.0002	0.0051	0.0103	0.0189	0.0175	0.0087256	1349	154602	rs113910234	0.0088	0.0088	0.0083	0.0092	0.0201	0.0086	0.0086	0.0171	0.0160	0.0010	0.0049	0.0038	2.519e-05	0.0056	0.0201	0.0091	0.0086	0.0167	0.0062	0.0062	0.0066	0.0059	0.0153	0.0059	0.0058	0.0125	0.0115	0.0015	0	0.0048	0.0055	0.0002	0.0039	0.0238	0.0097	0.0071	0.0153	0.446	0.09101	T	0.188	0.28669	T	0.04	0.21238	B	0.062	0.26930	B	0.033578	0.01773	N	2.075460	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-1.19	0.30346	N	0.078	0.05287	-1.0265	0.21593	T	0.037	0.15856	T	10	0.0028169155	0.00045	T	.	.	.	0.041	0.10877	.	.	0.162503812791	0.15892	0.12238860906299871	0.12165	0.248819774216	0.27451	0.349070757627	0.17785	T	0.071258	0.34164	T	-0.650317	0.00072	T	-0.693286	0.06201	T	0.00244706665336393	0.00025	T	0.450155	0.12692	T	0.047262046	0.08048	0.051013313	0.08125	0.042552084	0.06473	0.051013313	0.08124	-4.121	0.25599	T	0.22404178093100105	0.30252	0.098	0.16231	B	.	.	0.895746	0.12696	9.216	0.94939303724773183	0.25832	0.43237	0.27054	N	ALL	0.084762	0.17181	N	-1.31958861353704	0.03451	0.1541903	-1.28871962557727	0.04582	0.2164664	0.999999999986908	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.87	1.82	0.24209	0.252000	0.18046	0.114000	0.14823	-0.926000	0.02173	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.503:0.4183:0.0787	9.497	0.38162	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017120	0.000000	0.020380	0.020468	0.000000	0.008621	0.024390	0.022727	0.05263	6453.83	33	chr11	22625254	.	G	A	6453.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.51;DP=1068;ExcessHet=0.119;FS=3.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.807;SOR=0.938	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1403	17	0	2	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044814	0.020202	0.046196	0.114035	0.050000	0.051724	0.015244	0.026515	0.05263	2091.83	36	chr11	26721693	.	C	T	2091.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.038;DP=821;ExcessHet=0.119;FS=0.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.486;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1438	17	0	2	0
chr11	28082873	28082873	C	G	exonic	KIF18A	.	nonsynonymous SNV	KIF18A:NM_031217:exon9:c.G1245C:p.Q415H	.	628	893	1	0	0	1	0.000559597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0397663914956	.	0.000199681	8.536e-06	0	0	0	0	0	0	6.19e-05	1.29e-05	2	154602	rs142068059	3.476e-06	3.421e-06	2.769e-06	4.189e-06	2.404e-05	1.02e-06	7.4e-07	3.99e-06	1.49e-06	0	0	0	0	0	0	2.737e-06	0	2.404e-05	1.316e-05	1.313e-05	1.287e-05	1.347e-05	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	0.005	0.63226	D	0.018	0.59732	D	0.836	0.46303	P	0.572	0.49931	P	0.002256	0.36929	N	0.323825	0.716956	0.29959	N	2.28	0.64929	M	-0.81	0.73949	T	-1.96	0.45404	N	0.191	0.20925	-0.5990	0.64858	T	0.295	0.66678	T	10	0.17896166	0.33006	T	0.039766	0.58997	D	0.188	0.46444	0.215	0.13498	0.798520509768	0.79664	0.3569681145192616	0.35610	0.117908866914	0.13276	0.305577635765	0.11238	T	0.024009	0.18222	T	-0.161481	0.26531	T	-0.366789	0.37263	T	0.707383632659912	0.41072	D	0.49835	0.15517	T	0.12538162	0.29394	0.10173625	0.24364	0.12538162	0.29394	0.10173625	0.24363	-4.128	0.25701	T	.	.	0.151	0.33389	B	.	.	2.390065	0.30693	18.51	0.99630125111544843	0.75959	0.85515	0.44655	D	AEFBI	0.240014	0.36187	N	-0.0491689494215028	0.39639	2.340873	-0.0874943816991769	0.35907	2.082967	0.0838045246520611	0.15938	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.226	0.14625	-0.164000	0.09972	-1.124000	0.06259	0.599000	0.40250	0.607000	0.27805	0.000000	0.08366	0.973000	0.55318	0.115:0.5687:0.0:0.3163	6.163	0.19590	560	0.71333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	864.33	33	chr11	28082873	.	C	G	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=2.09;SOR=0.667	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1114	18	0	1	0
chr11	28097762	28097762	T	G	exonic	KIF18A	.	nonsynonymous SNV	KIF18A:NM_031217:exon2:c.A186C:p.Q62H	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0089	0.00359425	0.0088	0.0016	0.0023	0.0001	0.0135	0.0137	0.0056	0.0005	0.0086804	1342	154602	rs144868444	0.0089	0.0089	0.0090	0.0088	0.0105	0.0088	0.0087	0.0103	0.0102	0.0013	0.0028	0.0011	0	0.0134	0.0036	0.0105	0.0065	0.0005	0.0070	0.0070	0.0072	0.0068	0.0109	0.0067	0.0065	0.0103	0.0100	0.0013	0.0603	0.0036	0.0020	0	0.0132	0	0.0109	0.0047	0.0010	0.162	0.23541	T	0.563	0.09022	T	0.001	0.07471	B	0.012	0.16012	B	0.000532	0.43581	D	0.224740	0.905555	0.27614	N	-0.13	0.04535	N	-0.91	0.75001	T	0.16	0.05217	N	0.201	0.22228	-1.0450	0.15825	T	0.088	0.33968	T	10	0.0032369792	0.00055	T	.	.	.	0.094	0.27141	0.432	0.48171	0.675292279496	0.67254	0.512515129891289	0.51173	0.257212335181	0.28292	0.203831732273	0.00576	T	0.128632	0.45641	T	-0.557232	0.00264	T	-0.56217	0.16173	T	0.010535688518482	0.00146	T	0.360464	0.08297	T	0.033936087	0.03710	0.049830355	0.07696	0.033936087	0.03710	0.049830355	0.07695	-4.178	0.26432	T	.	.	0.088	0.11654	B	.	.	2.263031	0.28918	17.95	0.9563157444125342	0.27416	0.85750	0.44918	D	AEGBI	0.279126	0.39325	N	-0.550518903999067	0.20467	1.079162	-0.383804192565878	0.25480	1.401466	0.999079218962132	0.38370	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	3.16	0.35406	0.521000	0.22601	0.619000	0.20111	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.904000	0.43992	0.3473:0.0844:0.1162:0.4521	1.892	0.03052	561	0.71236	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1756.33	41	chr11	28097762	.	T	G	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.651;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr11	28211077	28211077	A	G	exonic	METTL15	.	nonsynonymous SNV	METTL15:NM_001113528:exon4:c.A286G:p.T96A,METTL15:NM_001297775:exon4:c.A286G:p.T96A,METTL15:NM_152636:exon4:c.A286G:p.T96A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.129238377371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.90584	D	0.848	0.92359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.655	0.99382	H	0.45	0.56446	T	-4.88	0.81985	D	0.897	0.97317	0.474	0.90178	D	0.544	0.83204	D	9	0.9852787	0.98771	D	0.129238	0.81126	D	0.634	0.85975	0.953	0.99466	0.499535901811	0.49588	0.7960048190908843	0.79553	0.430806407657	0.43310	0.497930258512	0.38540	T	0.331991	0.70201	T	0.336046	0.85569	D	0.244931	0.85379	D	0.999648809432983	0.98300	D	0.989945	0.96848	D	0.97909456	0.99039	0.92334723	0.96633	0.97909456	0.99039	0.92334723	0.96634	-7.728	0.63811	D	.	.	0.792	0.83281	P	.;.;.	.;.;.	4.951032	0.81783	27.6	0.99849838115640233	0.92925	0.94836	0.62498	D	AEFGBI	0.735069	0.68100	D	0.88666688355533	0.91090	10.711	0.776938319703485	0.88149	9.474841	0.870059011931351	0.25397	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.31	5.31	0.75063	6.725000	0.74561	11.181000	0.88313	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.091	0.64513	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1909.33	34	chr11	28211077	.	A	G	1909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0;FS=6.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.513;SOR=1.195	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	30903581	30903581	A	G	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon13:c.T1732C:p.W578R,DCDC1:NM_001367979:exon32:c.T4411C:p.W1471R	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.0928540639859	.	0.000798722	0.0004	0	0	0	0	0.0002	0	0.0019	0.0002458	38	154602	rs530429849	7.477e-05	7.661e-05	4.911e-05	0.0001	0.0010	6.332e-05	5.889e-05	0.0008	0.0008	0	0	0	0	1.879e-05	0.0010	1.081e-05	4.98e-05	0.0010	9.85e-05	9.843e-05	5.14e-05	0.0001	0.0025	6.003e-05	4.877e-05	0.0014	0.0011	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0025	.	.	.	0.017	0.63918	D	.	.	.	.	.	.	0.000632	0.42799	D	0.107749	0.616553	0.32668	D	.	.	.	-3.18	0.93111	D	.	.	.	0.688	0.78167	1.078	0.98825	D	0.862	0.95411	D	10	0.19889024	0.35876	T	0.092854	0.75968	D	0.769	0.92212	.	.	0.856096443789	0.85471	0.4330075666601383	0.43217	.	.	0.561247527599	0.47444	T	.	.	.	0.124972	0.66868	D	0.361186	0.90747	D	0.535982489585876	0.33955	D	0.577142	0.20757	T	.	.	.	.	.	.	.	.	0.093	0.00317	T	.	.	0.676	0.77428	P	.;.	.;.	4.440042	0.68930	25.3	0.99635558518284462	0.76326	0.95209	0.63842	D	AEFI	0.696528	0.65484	D	0.715810490284261	0.80669	7.345773	0.700846496759506	0.82441	7.768158	0.0568577820638169	0.15071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	5.469000	0.66479	9.103000	0.78781	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.180	0.65105	450	0.79359	Doublecortin domain;Doublecortin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	492.33	35	chr11	30903581	.	A	G	492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=689;ExcessHet=0;FS=3.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.04;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,971	18	0	1	0
chr11	30905098	30905098	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon12:c.C1492T:p.R498W,DCDC1:NM_001367979:exon31:c.C4171T:p.R1391W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0287800271216	7.7e-05	.	6.079e-05	0.0003	0	0	0	1.581e-05	0.0011	0.0001	5.17e-05	8	154602	rs144668195	2.121e-05	2.121e-05	2.451e-05	1.788e-05	5.977e-05	1.52e-05	1.325e-05	1.583e-05	1.151e-05	5.977e-05	0	0	0	0	0	2.069e-05	3.314e-05	4.638e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	9.625e-05	2.556e-05	1.829e-05	3.243e-05	1.91e-05	9.625e-05	0	0	0	0	0	0.0034	4.411e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.003156	0.35359	N	0.130642	0.995246	0.23338	N	.	.	.	1.21	0.37230	T	.	.	.	0.272	0.44283	-0.9404	0.42552	T	0.124	0.42715	T	9	0.12122041	0.22975	T	0.02878	0.51400	D	0.176	0.44373	.	.	0.391775403332	0.38787	0.22115270554143396	0.22030	.	.	0.204922646284	0.00614	T	.	.	.	-0.218055	0.18260	T	-0.271562	0.47661	T	0.206846207493344	0.20787	T	0.761924	0.38711	T	.	.	.	.	.	.	.	.	-5.918	0.45588	T	.	.	0.112	0.34470	B	.;.	.;.	2.173981	0.27707	17.55	0.99866593253317149	0.94457	0.24041	0.22269	N	AEFI	0.377375	0.46117	N	-0.222234482283471	0.32222	1.814919	-0.163276533106889	0.32901	1.876455	3.2443970149907E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.39	0.52211	0.497000	0.22222	1.982000	0.30038	0.676000	0.76740	0.268000	0.25027	0.909000	0.28100	0.036000	0.13842	0.088:0.0:0.7475:0.1645	7.369	0.25963	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	35	chr11	30905098	.	G	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=778;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.772;SOR=0.943	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1339	18	0	1	0
chr11	30906566	30906566	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon11:c.C1399T:p.P467S,DCDC1:NM_001367979:exon30:c.C4078T:p.P1360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.00788097369726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470375713	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.02	0.60972	D	.	.	.	.	.	.	0.003460	0.34930	N	0.204188	1	0.08975	N	.	.	.	1.59	0.28836	T	.	.	.	0.358	0.50958	-0.9772	0.35638	T	0.154	0.48430	T	9	0.3555684	0.52315	T	0.007881	0.20903	T	0.363	0.68319	.	.	0.464612977235	0.46086	0.07465628943938202	0.07401	.	.	0.312831878662	0.12334	T	.	.	.	-0.148635	0.28526	T	-0.435794	0.29280	T	0.255310488303569	0.23109	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	-2.864	0.08788	T	.	.	0.204	0.54427	B	.;.	.;.	1.976043	0.25106	16.64	0.98707176409152375	0.44996	0.33527	0.24849	N	AEFIJ	0.090814	0.18400	N	0.173868685833933	0.49948	3.189618	0.0983364199790795	0.44464	2.727773	5.94682407771479E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	2.86	0.32427	1.167000	0.31456	4.058000	0.41564	0.676000	0.76740	0.891000	0.31220	1.000000	0.68203	0.362000	0.25931	0.1555:0.0:0.703:0.1415	7.121	0.24619	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	873.33	34	chr11	30906566	.	G	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=703;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.37;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr11	31094136	31094136	T	G	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_001367979:exon16:c.A2032C:p.S678R	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00164023801198	0.0002	0.00139776	0.0008	0.0001	8.763e-05	0	0	0.0002	0	0.0047	0.0006404	99	154602	rs376049865	0.0005	0.0005	0.0003	0.0007	0.0037	0.0004	0.0004	0.0033	0.0031	0	6.861e-05	0.0002	0	2.574e-05	0.0010	5.432e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.708e-05	0.0028	0.0023	0	0	0	0.0006	0	0	0	4.411e-05	0	0.0042	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.36	0.34452	T	.	.	.	0.421	0.46086	.	.	.	.	.	.	.	0.0071080327	0.00162	T	0.00164	0.02676	T	.	.	.	.	0.64191002643	0.63895	.	.	.	.	0.292992472649	0.09360	T	.	.	.	-0.470628	0.00842	T	-0.448535	0.27859	T	.	.	.	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.211	0.43935	B	.	.	1.175359	0.15656	12.01	0.77021265068808054	0.11704	0.03869	0.09232	N	AEFI	0.051751	0.09174	N	.	.	.	.	.	.	1.93413818597597E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.78	3.62	0.40616	0.346000	0.19737	-0.157000	0.11360	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.854000	0.40426	0.0:0.0:0.2009:0.7991	8.756	0.33805	379	0.83778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	901.33	34	chr11	31094136	.	T	G	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.314;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr11	31463252	31463252	T	C	exonic	IMMP1L	.	nonsynonymous SNV	IMMP1L:NM_001304274:exon2:c.A25G:p.T9A,IMMP1L:NM_144981:exon3:c.A25G:p.T9A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00934237815919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.09717	T	0.969	0.24054	T	0.0	0.02946	B	0.0	0.04355	B	0.000002	0.62929	N	0.098518	0.985709	0.81001	D	0.955	0.23872	L	0.91	0.44856	T	-0.06	0.09135	N	0.292	0.34120	-1.0781	0.07721	T	0.053	0.22617	T	10	0.09280047	0.16372	T	0.009342	0.24506	T	0.053	0.14996	0.426	0.47185	0.514980250562	0.51141	0.5646326564162981	0.56390	0.0126458111679	0.01211	0.488115310669	0.37178	T	0.009679	0.08796	T	-0.228397	0.16861	T	-0.565853	0.15832	T	0.150721535086632	0.17161	T	0.675632	0.31438	T	0.0615297	0.12751	0.046851877	0.06622	0.0615297	0.12751	0.046851877	0.06622	-5.004	0.36883	T	.	.	0.078	0.11220	B	.;.;.;.;.	.;.;.;.;.	2.008849	0.25522	16.79	0.43218891214948174	0.03239	0.85535	0.44677	D	AEFBI	0.424865	0.48986	N	-0.487770915012341	0.22482	1.200696	-0.292331848734373	0.28349	1.58009	8.53428165373112E-4	0.07917	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.6	3.26	0.36471	1.810000	0.38570	0.897000	0.22519	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1514:0.1397:0.7089	6.024	0.18869	381	0.83684	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1743.33	33	chr11	31463252	.	T	C	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.372;DP=761;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.045;SOR=0.608	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1757,0,1503	18	0	1	0
chr11	31539740	31539740	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon3:c.T338C:p.L113S,ELP4:NM_001288726:exon3:c.T338C:p.L113S,ELP4:NM_019040:exon3:c.T338C:p.L113S	.	431	1063	27	1	0	29	0.0134571	.	.	.	701730	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.327	.	0.0029	0.00399361	0.0050	0.0005	0.0020	0	0.0017	0.0046	0.0033	0.0153	0.0044825	693	154602	rs201333718	0.0047	0.0047	0.0043	0.0051	0.0146	0.0046	0.0046	0.0139	0.0136	0.0007	0.0022	0.0046	0	0.0021	0.0078	0.0044	0.0057	0.0146	0.0035	0.0035	0.0035	0.0036	0.0143	0.0033	0.0032	0.0116	0.0106	0.0006	0	0.0022	0.0072	0	0.0020	0	0.0052	0.0038	0.0143	0.001	0.78490	D	0.002	0.92824	D	0.793	0.49745	P	0.48	0.47081	P	0.000219	0.47681	N	0.141600	0.999374	0.46831	D	2.33	0.66821	M	0.69	0.51714	T	-4.05	0.74504	D	0.717	0.71942	-0.6524	0.62609	T	0.226	0.59083	T	10	0.011266887	0.00247	T	.	.	.	0.327	0.64926	.	.	0.757842185581	0.75564	0.893030983477981	0.89273	0.150935704758	0.17036	0.357488334179	0.19020	T	0.124407	0.44941	T	-0.0941433	0.37391	T	0.104967	0.77237	D	0.0459769926850734	0.04779	T	0.759324	0.38363	T	0.54611576	0.69739	0.5094322	0.71650	0.5717868	0.71160	0.6096003	0.77294	-11.428	0.81953	D	.	.	0.339	0.64320	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.879300	0.56368	23.7	0.99659333267524086	0.77820	0.90763	0.52215	D	AEFDBI	0.493549	0.52972	N	0.38074612581872	0.60379	4.226205	0.371876799930466	0.59835	4.165029	0.177405396842463	0.17823	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.32	4.19	0.48645	4.345000	0.59140	3.471000	0.38581	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0754:0.0:0.9246	10.875	0.46112	412	0.82007	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	487.33	33	chr11	31539740	.	T	C	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.988;DP=679;ExcessHet=0;FS=2.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-0.813;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr11	31603826	31603826	C	A	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon5:c.C575A:p.P192Q,ELP4:NM_001288726:exon5:c.C572A:p.P191Q,ELP4:NM_019040:exon5:c.C572A:p.P191Q	.	436	1084	2	0	0	2	0.000921659	.	.	.	693002	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.00766190645127	0.0025	0.000599042	0.0028	0.0007	0.0017	0	0.0015	0.0043	0.0033	0.0003	0.0027619	427	154602	rs201699595	0.0036	0.0036	0.0036	0.0036	0.0044	0.0035	0.0035	0.0043	0.0043	0.0005	0.0018	0.0007	0	0.0017	0	0.0044	0.0025	0.0003	0.0025	0.0026	0.0029	0.0022	0.0045	0.0023	0.0023	0.0041	0.0039	0.0008	0	0.0016	0.0006	0	0.0015	0	0.0045	0.0028	0	0.233	0.33585	T	0.195	0.28032	T	0.975	0.67487	D	0.717	0.60313	P	0.000273	0.46590	D	0.255620	0.823272	0.28855	N	2.05	0.56469	M	1.04	0.40218	T	-0.18	0.09796	N	0.382	0.42345	-0.8951	0.48474	T	0.199	0.55414	T	10	0.008760184	0.00198	T	0.007662	0.20325	T	0.203	0.48915	.	.	0.669029919475	0.66624	0.3414478006322172	0.34057	0.266514489668	0.29196	0.287040412426	0.08493	T	0.012642	0.11078	T	-0.398995	0.02350	T	-0.342179	0.40098	T	0.0264428832089823	0.01466	T	0.922108	0.71672	D	0.06884359	0.15034	0.10977546	0.26461	0.06884359	0.15033	0.10977546	0.26461	-6.639	0.51350	T	.	.	0.110	0.29144	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.837533	0.55512	23.6	0.98964162724712479	0.49403	0.92638	0.56184	D	AEFI	0.313263	0.41847	N	0.469218747190213	0.65301	4.80537	0.482135655490483	0.66807	5.000376	0.446720810744399	0.20503	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.06	6.06	0.98340	4.857000	0.62639	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	0.944000	0.28851	0.992000	0.67800	0.0:1.0:0.0:0.0	20.250	0.98406	388	0.83355	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	845.33	33	chr11	31603826	.	C	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.711;DP=710;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.071;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T,ELP4:NM_001288725:exon11:c.G1323C:p.E441D	.	422	1070	30	0	0	30	0.0138249	.	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.005051	0.004076	0.014620	0.000000	0.017241	0.012195	0.018939	0.02632	1325.33	33	chr11	31783430	.	G	C	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.911;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.019;SOR=0.798	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1204	18	0	1	0
chr11	31783490	31783490	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.T1241C:p.M414T	.	424	1094	4	0	0	4	0.00182482	.	.	.	693005	not_provided|not_specified|ELP4-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.00463023244741	0.0015	.	0.0008	0.0006	8.643e-05	0	0.0005	0.0012	0.0011	0.0005	0.0008991	139	154602	rs200018893	0.0015	0.0015	0.0016	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0002	0.0002	0	0	0.0006	0.0012	0.0018	0.0011	0.0006	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0003	0	0	0.0005	0	0.0017	0	0	0.597	0.05686	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.19072	N	.	.	.	1.09	0.39223	T	0.03	0.06612	N	.	.	-0.9999	0.29945	T	0.067	0.27708	T	9	0.0116990805	0.00254	T	0.00463	0.11472	T	0.045	0.12272	.	.	0.128392430309	0.12331	.	.	0.0564535729519	0.06238	0.282495081425	0.07842	T	0.006188	0.05627	T	-0.646184	0.00076	T	-0.700022	0.05824	T	0.000848177014579988	0.00008	T	0.475352	0.14216	T	0.053250786	0.10048	0.088017575	0.20495	0.053250786	0.10048	0.088017575	0.20494	-2.225	0.04163	T	.	.	0.088	0.11701	B	.;.	.;.	0.369904	0.07422	4.053	0.56455259051439732	0.05556	0.12454	0.17279	N	AEFDIJ	0.013766	0.00195	N	-1.03786454232493	0.07828	0.3649684	-1.00873588633329	0.09592	0.4781257	0.00782027977440591	0.11550	0.626454	0.40138	0	0.659464	0.62310	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.73	-4.72	0.03032	0.715000	0.25493	-1.826000	0.04656	-0.120000	0.14102	0.653000	0.28198	0.000000	0.08366	0.992000	0.67800	0.0:0.5858:0.2339:0.1803	10.270	0.42658	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1232.33	33	chr11	31783490	.	T	C	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=739;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.33;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1204	18	0	1	0
chr11	32616005	32616005	T	G	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon15:c.A1310C:p.D437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0052681080442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.731	0.05146	T	0.728	0.42542	P	0.297	0.40924	B	0.216093	0.16249	N	0.607040	1	0.08975	N	2.175	0.60977	M	.	.	.	-1.58	0.38151	N	0.357	0.39861	-0.9969	0.30783	T	0.111	0.39959	T	9	0.10093087	0.18411	T	0.005268	0.13464	T	0.063	0.18251	0.14	0.04369	0.0986583533028	0.09354	0.19678037070137502	0.19595	0.53341979916	0.50776	0.347976446152	0.17624	T	0.016255	0.13471	T	-0.101719	0.36141	T	-0.383889	0.35267	T	0.585413098335266	0.35827	D	0.561544	0.19673	T	0.1300184	0.30350	0.108368926	0.26103	0.1300184	0.30350	0.108368926	0.26102	-3.994	0.23714	T	.	.	0.112	0.21803	B	.	.	2.875723	0.38040	20.6	0.98817840577052063	0.46736	0.07056	0.13083	N	AEFI	0.103492	0.20733	N	-0.21873479536692	0.32365	1.824492	-0.302326071848357	0.28025	1.559297	0.035452718335309	0.14201	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.93	0.44666	1.100000	0.30637	1.516000	0.27058	0.609000	0.47794	0.006000	0.17386	0.023000	0.20922	0.765000	0.36330	0.0:0.0:0.1946:0.8054	8.578	0.32772	372	0.84213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	478.33	33	chr11	32616005	.	T	G	478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.184;DP=666;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.571;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	18	0	1	0
chr11	32934031	32934031	A	G	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.A2773G:p.M925V	.	.	.	.	.	.	.	.	.	.	.	2394385	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00468892823038	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs777222714	5.064e-05	5.062e-05	2.587e-05	7.565e-05	0.0007	4.126e-05	3.779e-05	0.0006	0.0005	0	0	0	0	0	0	6.296e-06	4.969e-05	0.0007	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.023	0.48186	D	0.395	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.000060	0.53742	D	0.131649	0.519014	0.31585	N	0.895	0.22405	L	2.36	0.16089	T	-1.04	0.27259	N	0.158	0.16447	-1.0662	0.10269	T	0.037	0.15813	T	10	0.028698623	0.01000	T	0.004689	0.11660	T	0.040	0.10527	0.16	0.06396	0.0675242888579	0.06100	0.3129223008214725	0.31205	0.0941277543069	0.10624	0.382169306278	0.22564	T	0.006019	0.05459	T	-0.439451	0.01303	T	-0.508223	0.21499	T	0.0708590214924967	0.08771	T	0.80282	0.44919	T	0.12492015	0.29296	0.15848807	0.37008	0.12492015	0.29296	0.15848807	0.37007	-2.532	0.06004	T	.	.	0.090	0.14523	B	.;.	.;.	1.168801	0.15586	11.96	0.96471636411666672	0.29939	0.98256	0.80988	D	AEFGBI	0.333673	0.43269	N	-0.301718203047178	0.29083	1.609704	-0.141958103415244	0.33718	1.931767	0.0566617639798894	0.15064	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.2	0.35826	1.600000	0.36372	2.773000	0.34684	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6922:0.191:0.0:0.1169	8.520	0.32429	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2154.33	124	chr11	32934031	.	A	G	2154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=2027;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.168;SOR=0.654	GT:AD:DP:GQ:PL	0/1:96,83:179:99:2168,0,2582	18	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	306.71	34	chr11	33085948	.	G	A	306.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.662;DP=1060;ExcessHet=0;FS=62.787;InbreedingCoeff=-0.0413;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=1.92;SOR=5.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1231:.	17	0	1	1
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1687.47	64	chr11	33085953	.	G	A	1687.47	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0:61:0:.:.:0,0,1261:.	4	0	5	10
chr11	33085953	33085953	G	C	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832G:p.P611R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.0232699585003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.947e-06	3.352e-05	2.892e-06	3.005e-06	2.823e-06	6.9e-07	4.7e-07	7.5e-07	2.1e-07	0	0	4.916e-05	0	0	0	2.823e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.002	0.79402	D	0.966	0.56202	D	0.933	0.66815	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	.	.	.	-6.57	0.91912	D	0.728	0.72925	-0.1643	0.78566	T	0.492	0.80737	T	8	0.91936517	0.91292	D	0.02327	0.46221	T	0.665	0.87527	0.789	0.91142	0.640670019896	0.63770	0.7002528472095739	0.69966	1.92838328423	0.93098	0.900027453899	0.96443	D	0.479365	0.80880	T	0.269378	0.80385	D	0.149166	0.80131	D	0.99349582195282	0.84315	D	0.933007	0.75965	D	0.54552543	0.69706	0.597864	0.76646	0.54552543	0.69707	0.597864	0.76647	-9.097	0.68318	D	.	.	0.980	0.91141	P	.;.	.;.	5.174818	0.86744	29.0	0.99836858836699538	0.91800	0.99575	0.97606	D	AEFBI	0.884459	0.81417	D	0.890089964662944	0.91266	10.79715	0.902993899058487	0.95702	13.88054	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1687.47	64	chr11	33085953	.	G	C	1687.47	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0:61:0:.:.:0,0,1261:.	8	0	1	10
chr11	33286533	33286533	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon2:c.A119G:p.Y40C,HIPK3:NM_001278162:exon2:c.A119G:p.Y40C,HIPK3:NM_001278163:exon2:c.A119G:p.Y40C,HIPK3:NM_005734:exon2:c.A119G:p.Y40C	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	7.7e-05	0.00359425	0.0017	0	0.0002	0	0	0.0002	0.0033	0.0110	0.0014942	231	154602	rs200300898	0.0008	0.0008	0.0005	0.0011	0.0105	0.0008	0.0007	0.0100	0.0098	2.987e-05	6.708e-05	0	0	1.872e-05	0.0026	0.0002	0.0008	0.0105	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0002	0	0.0095	0.111	0.35726	T	0.158	0.63918	T	0.003	0.11197	B	0.004	0.10090	B	0.000642	0.42656	N	0.104879	0.999981	0.54805	D	2.495	0.72670	M	0.68	0.52416	T	-2.58	0.89029	D	0.492	0.55019	-1.0600	0.11756	T	0.088	0.34133	T	10	0.00625664	0.00141	T	.	.	.	0.114	0.32008	.	.	0.578573627871	0.57527	0.39945641044821606	0.39860	0.230702978242	0.25618	0.424282431602	0.28426	T	0.201099	0.55887	T	-0.383459	0.02962	T	-0.314194	0.43206	T	0.0553894793299196	0.06423	T	0.806819	0.45619	T	0.108618036	0.25682	0.085467264	0.19735	0.108618036	0.25682	0.085467264	0.19735	-4.116	0.25555	T	.	.	0.067	0.09820	B	.;.;.;.;.	.;.;.;.;.	2.995585	0.40004	21.1	0.9662471669403353	0.30491	0.88349	0.48236	D	AEFGBI	0.177065	0.30429	N	-0.193974685039973	0.33384	1.893416	-0.0176254700439987	0.38919	2.299893	0.997755935696829	0.35989	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	4.49	0.54177	4.048000	0.57102	4.175000	0.42299	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8044:0.0:0.0694:0.1263	7.543	0.26917	380	0.83728	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1497.33	34	chr11	33286533	.	A	G	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.521;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.79;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1511,0,1372	18	0	1	0
chr11	33606778	33606778	A	C	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon14:c.A5017C:p.T1673P	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00277276727028	0.0002	0.000599042	0.0012	0.0001	0.0014	0	0	0.0014	0	0.0019	0.0008732	135	154602	rs199776321	0.0008	0.0008	0.0007	0.0009	0.0123	0.0007	0.0007	0.0100	0.0092	0.0008	0.0010	0.0137	0	0	0.0123	0.0003	0.0021	0.0017	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0006	0.0004	0.0002	0	0.0009	0.0118	0	0	0.0102	0.0004	0.0005	0.0008	0.284	0.15303	T	0.152	0.32249	T	.	.	.	.	.	.	0.093459	0.20223	N	0.556859	1	0.08975	N	0.11	0.08516	N	.	.	.	-0.14	0.09135	N	0.141	0.14054	-1.0785	0.07641	T	0.048	0.20434	T	9	0.0030603409	0.00050	T	0.002773	0.05752	T	0.130	0.35528	.	.	0.0846915920261	0.08053	0.14824664572716612	0.14746	0.226095506065	0.25162	0.281315803528	0.07677	T	0.025846	0.19245	T	-0.438906	0.01313	T	-0.409401	0.32295	T	0.000340188431040199	0.00003	T	0.527447	0.17405	T	0.056069683	0.10981	0.06587879	0.13414	0.056069683	0.10981	0.06587879	0.13413	-2.616	0.06625	T	.	.	0.056	0.01470	B	.;.	.;.	0.343854	0.07174	3.759	0.75016758292641461	0.10914	0.19262	0.20592	N	AEFBI	0.190347	0.31758	N	-1.31153977468518	0.03542	0.1584078	-1.37334065366999	0.03538	0.165257	0.687568234478271	0.22551	0.706548	0.73137	0	0.670034	0.63936	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.43	-7.46	0.01225	1.067000	0.30227	0.031000	0.13732	-0.133000	0.13014	0.157000	0.23755	0.000000	0.08366	0.416000	0.27139	0.1052:0.1132:0.4511:0.3305	3.938	0.08811	669	0.61081	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019677	0.005051	0.025886	0.040936	0.000000	0.017241	0.009146	0.007576	0.02632	709.33	35	chr11	33606778	.	A	C	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.388;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.855;SOR=0.749	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr11	34108323	34108323	-	AAA	exonic	NAT10	.	nonframeshift insertion	NAT10:NM_024662:exon2:c.98_99insAAA:p.K34_D35insK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00219649	0.0004	0.0040	8.639e-05	0	0	0	0	0	0.0003558	55	154602	rs139367378	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0001	0	0	0	0.0005	1.8e-06	0.0003	2.319e-05	0.0011	0.0011	0.0012	0.0009	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0006	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	1254.29	34	chr11	34108323	.	G	GAAA	1254.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.786;DP=716;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.63;SOR=0.59	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr11	34139397	34139397	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon21:c.G2105A:p.R702Q,NAT10:NM_024662:exon23:c.G2321A:p.R774Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.023550133698	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs779649525	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.68	0.94442	H	0.67	0.52187	T	-3.83	0.72120	D	0.815	0.81063	0.059	0.83420	D	0.423	0.76783	T	10	0.87277627	0.86552	D	0.02355	0.46515	T	0.499	0.78288	0.663	0.80098	0.86862714507	0.86734	0.8167882846394604	0.81634	0.612704788932	0.55857	0.768080174923	0.77137	T	0.423129	0.77399	T	0.22194	0.75960	D	0.0810257	0.75647	D	0.998904466629028	0.95536	D	0.997769	0.99073	D	0.7314324	0.79804	0.6619202	0.80188	0.7314324	0.79805	0.6619202	0.80189	-10.679	0.77868	D	.	.	0.962	0.88297	P	.;.;.	.;.;.	5.537972	0.91934	32	0.99948964568543419	0.99931	0.98268	0.81101	D	AEFBCI	0.913799	0.87627	D	0.993558453252528	0.95543	13.72093	0.907603292375264	0.95896	14.081	0.999999999989196	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	9.903000	0.98630	9.928000	0.82558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	19.010	0.92847	338	0.86082	Possible tRNA binding domain;.;Possible tRNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.33	33	chr11	34139397	.	G	A	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.389;DP=793;ExcessHet=0;FS=61.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=0.163;SOR=6.344	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	18	0	1	0
chr11	34140495	34140495	A	G	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon22:c.A2299G:p.M767V,NAT10:NM_024662:exon24:c.A2515G:p.M839V	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0148029985972	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149351119	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.378	0.16086	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.145	0.29067	L	1.7	0.26885	T	-0.78	0.21644	N	0.944	0.95725	-1.0811	0.07137	T	0.035	0.15247	T	10	0.652272	0.69672	D	0.014803	0.35150	T	0.332	0.65424	.	.	0.380901646489	0.37697	0.5774435743568245	0.57673	0.203479476515	0.22768	0.687375426292	0.65328	T	0.027425	0.20088	T	0.18663	0.72653	D	0.0303043	0.72297	D	0.406136570740375	0.29173	T	0.974353	0.90870	D	0.1526889	0.34649	0.13108839	0.31485	0.1526889	0.34648	0.13108839	0.31484	-3.867	0.30980	T	.	.	0.118	0.35870	B	.;.;.	.;.;.	2.695994	0.35200	19.84	0.89932111718360519	0.19230	0.99024	0.90115	D	AEFDGBI	0.924383	0.90233	D	-0.279753255337008	0.29931	1.664272	-0.0926982651257959	0.35691	2.067896	0.999962080081316	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	4.0	0.45673	9.246000	0.94587	9.286000	0.79753	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8586:0.1414:0.0:0.0	12.342	0.54423	338	0.86082	Possible tRNA binding domain;.;Possible tRNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	33	chr11	34140495	.	A	G	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.25;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-1.893;SOR=0.729	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1465	18	0	1	0
chr11	34140562	34140562	C	T	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon22:c.C2366T:p.A789V,NAT10:NM_024662:exon24:c.C2582T:p.A861V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0188513955688	0.0003	0.000798722	0.0005	9.841e-05	0.0002	0.0001	0	0.0007	0	0.0006	0.0005433	84	154602	rs145204141	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	2.987e-05	6.711e-05	3.828e-05	0	7.488e-05	0.0035	0.0007	0.0002	0.0005	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	0.0003	0	0	0	0	9.423e-05	0	0.0006	0	0.0012	0.436	0.09866	T	0.501	0.11299	T	0.013	0.16609	B	0.014	0.16862	B	0.000000	0.84330	D	0.047074	1	0.81001	D	1.355	0.33814	L	1.53	0.30669	T	-1.98	0.46673	N	0.508	0.54757	-1.0860	0.06227	T	0.062	0.25780	T	10	0.03394699	0.01586	T	0.018851	0.41045	T	0.130	0.35528	.	.	0.325533332567	0.32158	0.4104256590947919	0.40958	0.200818743576	0.22476	0.672589898109	0.63207	T	0.052487	0.29175	T	-0.401079	0.02278	T	-0.389432	0.34618	T	0.0292094429392417	0.01870	T	0.947205	0.80662	D	0.15040113	0.34240	0.15845749	0.37002	0.15040113	0.34240	0.15845749	0.37002	-6.516	0.50410	T	.	.	0.091	0.29172	B	.;.;.	.;.;.	3.323181	0.45711	22.2	0.60048397728169534	0.06369	0.98571	0.84224	D	AEFDGBI	0.587605	0.58519	D	-0.341270042754566	0.27595	1.51522	-0.226939693393318	0.30574	1.722699	0.999999956449119	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	6.072000	0.70870	3.325000	0.37578	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.063000	0.16184	0.0:1.0:0.0:0.0	19.279	0.94029	338	0.86082	Possible tRNA binding domain;.;Possible tRNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1274.33	33	chr11	34140562	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=778;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.034;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1465	18	0	1	0
chr11	34888363	34888363	G	A	exonic	APIP	.	nonsynonymous SNV	APIP:NM_015957:exon5:c.C391T:p.R131W	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0175022827983	.	0.000399361	0.0001	0	0	0.0005	0.0008	8.997e-05	0	0.0002	0.0001358	21	154602	rs200417952	6.514e-05	6.635e-05	7.502e-05	5.515e-05	0.0002	5.441e-05	5.053e-05	0.0002	0.0001	0	2.254e-05	0	0.0001	0.0008	0.0002	1.351e-05	0.0001	0.0002	5.92e-05	5.909e-05	5.146e-05	6.729e-05	0.0004	3.08e-05	2.212e-05	6.83e-05	2.858e-05	2.412e-05	0	6.558e-05	0	0.0004	0.0002	0	2.942e-05	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.922	0.51142	P	0.67	0.53116	P	0.124038	0.18896	N	0.585786	0.809374	0.29019	N	1.47	0.36993	L	1.87	0.24085	T	-3.46	0.67705	D	0.232	0.26111	-1.0259	0.21788	T	0.083	0.32499	T	10	0.089328915	0.15465	T	0.017502	0.39223	T	0.097	0.27909	0.372	0.38340	0.380901646489	0.37697	0.7408933732763106	0.74034	0.331280587457	0.35207	0.239483520389	0.02744	T	0.148297	0.48678	T	-0.358633	0.04207	T	-0.460779	0.26514	T	0.15428359042738	0.17439	T	0.807219	0.45710	T	0.26604816	0.49675	0.34700355	0.60361	0.26604816	0.49674	0.34700355	0.60360	-9.25	0.69292	D	.	.	0.182	0.39545	B	.	.	4.484034	0.69979	25.5	0.99896738415537567	0.96971	0.89614	0.50191	D	AEFBI	0.575868	0.57809	D	0.269797852459423	0.54624	3.627567	0.284362652384148	0.54627	3.62705	0.993144867081063	0.33102	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.7	4.78	0.60666	3.727000	0.54711	3.656000	0.39392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:0.5233:0.4767	13.005	0.58106	779	0.47767	Class II aldolase/adducin N-terminal|Class II aldolase/adducin N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	540.33	41	chr11	34888363	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.407;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,112,1271	18	0	1	0
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V,CD44:NM_000610:exon11:c.A1369G:p.I457V	.	428	1048	42	4	0	50	0.0232992	.	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021652	0.020202	0.010870	0.020468	0.000000	0.017241	0.024390	0.053030	0.02632	1432.33	33	chr11	35206198	.	A	G	1432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.524;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	18	0	1	0
chr11	35222374	35222374	G	A	splicing	CD44	NM_001202557:exon9:c.882-1G>A	.	.	.	421	1071	28	2	0	32	0.0147194	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0096	0.0022	0.0103	0	0.0049	0.0066	0.0097	0.0141	0.0024838	384	154602	rs140184039	0.0118	0.0097	0.0118	0.0119	0.0139	0.0117	0.0116	0.0132	0.0129	0.0020	0.0036	0.0030	7.942e-05	0.0047	0.0103	0.0127	0.0128	0.0139	0.0067	0.0067	0.0070	0.0065	0.0139	0.0064	0.0063	0.0113	0.0103	0.0020	0.0033	0.0052	0.0023	0.0004	0.0044	0.0136	0.0106	0.0071	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2819.79	35	chr11	35222374	.	G	A	2819.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.114;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.51;SOR=0.666	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1055,0,1252	16	0	3	0
chr11	35434537	35434537	T	A	exonic	PAMR1	.	nonsynonymous SNV	PAMR1:NM_001282676:exon8:c.A1268T:p.D423V,PAMR1:NM_001001991:exon10:c.A1601T:p.D534V,PAMR1:NM_015430:exon11:c.A1652T:p.D551V,PAMR1:NM_001282675:exon12:c.A1481T:p.D494V	.	426	1088	7	1	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.369770803232	0.0036	0.00159744	0.0035	0.0011	0.0029	0	0.0006	0.0048	0.0055	0.0033	0.0034799	538	154602	rs138978009	0.0045	0.0046	0.0045	0.0046	0.0053	0.0045	0.0044	0.0052	0.0051	0.0008	0.0023	0.0013	5.038e-05	0.0013	0.0016	0.0053	0.0033	0.0036	0.0032	0.0032	0.0034	0.0029	0.0053	0.0029	0.0028	0.0049	0.0047	0.0010	0	0.0023	0.0009	0.0006	0.0012	0	0.0053	0.0019	0.0046	.	.	.	0.031	0.61642	D	0.573	0.77913	P	0.369	0.69585	B	0.000066	0.52346	D	0.184737	1	0.81001	D	1.945	0.52268	M	-3.4	0.94260	D	-3.93	0.73267	D	0.563	0.58713	0.868	0.95250	D	0.839	0.94628	D	10	0.021093369	0.00498	T	0.369771	0.92717	D	0.733	0.90677	.	.	0.699374645127	0.69677	0.6468087018505764	0.64615	.	.	0.323241233826	0.13912	T	0.463826	0.83975	T	-0.0393058	0.46053	T	0.172268	0.81544	D	0.0152139434610797	0.00334	T	0.933807	0.85735	D	0.85598934	0.87781	0.73545575	0.84365	0.85598934	0.87783	0.73545575	0.84366	-11.134	0.80387	D	.	.	0.273	0.56324	B	.;.;.;.;.;.	.;.;.;.;.;.	4.326572	0.66257	24.9	0.99473215296400908	0.66472	0.97594	0.75777	D	AEFGBI	0.760383	0.69842	D	0.510256157878401	0.67696	5.116035	0.547344465950344	0.71213	5.620583	0.999999999454718	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	4.983000	0.63555	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.633	0.76680	858	0.34001	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.020202	0.001359	0.000000	0.000000	0.000000	0.003049	0.011450	0.02632	1346.33	33	chr11	35434537	.	T	A	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=858;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.465;SOR=0.531	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	18	0	1	0
chr11	35619747	35619747	A	G	exonic	FJX1	.	nonsynonymous SNV	FJX1:NM_014344:exon1:c.A1111G:p.T371A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	.	0.0012	0.00279553	0.0004	0.0057	0.0014	0	0	0	0	0	0.0003752	58	154602	rs202089278	0.0002	0.0002	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0078	0.0090	0.0003	0	0	0	0	9.199e-06	0.0005	2.478e-05	0.0025	0.0024	0.0026	0.0023	0.0087	0.0022	0.0022	0.0080	0.0077	0.0087	0	0.0007	0	0	0	0	0	0.0005	0.0002	0.007	0.59928	D	0.021	0.58089	D	0.996	0.68779	D	0.936	0.67150	D	.	.	.	.	0.954037	0.37858	D	1.79	0.46772	L	-1.52	0.81478	D	-4.41	0.77391	D	0.733	0.73375	0.102	0.84204	D	0.429	0.77134	T	9	0.007925361	0.00180	T	.	.	.	0.654	0.86986	.	.	0.231005064126	0.22704	0.8341295286425536	0.83371	.	.	0.80544501543	0.82793	D	0.690789	0.91007	D	-0.101261	0.36216	T	0.0870373	0.76047	D	0.0796741839000353	0.09944	T	0.675032	0.28342	T	0.3001229	0.52915	0.23552375	0.48799	0.3001229	0.52915	0.23552375	0.48798	-8.885	0.66953	D	.	.	0.661	0.71354	P	.	.	4.841730	0.79050	27.0	0.99284816343678317	0.58043	0.41844	0.26747	N	ALL	0.493105	0.52946	N	0.660381602451078	0.77043	6.599184	0.628559744204323	0.77020	6.600151	0.999999999999972	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	5.21	5.21	0.72005	8.051000	0.89228	10.831000	0.83876	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.9184:0.0:0.0816:0.0	9.336	0.37211	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	36	chr11	35619747	.	A	G	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.47;SOR=0.669	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1066	18	0	1	0
chr11	36573881	36573881	G	A	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.G577A:p.E193K,RAG1:NM_001377280:exon2:c.G577A:p.E193K,RAG1:NM_001377279:exon3:c.G577A:p.E193K,RAG1:NM_001377278:exon4:c.G577A:p.E193K,RAG1:NM_001377277:exon5:c.G577A:p.E193K	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	320387	Combined_immunodeficiency_with_skin_granulomas|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Recombinase_activating_gene_1_deficiency|Histiocytic_medullary_reticulosis|not_specified|not_provided	MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0000572,MedGen:CN375631|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0007	0.00858626	0.0041	0.0020	0.0035	0.0006	0	0.0003	0.0033	0.0250	0.0037516	580	154602	rs34841221	0.0020	0.0020	0.0013	0.0026	0.0239	0.0019	0.0019	0.0231	0.0227	0.0029	0.0022	0	0.0004	1.872e-05	0.0045	0.0003	0.0031	0.0239	0.0020	0.0020	0.0017	0.0024	0.0234	0.0018	0.0018	0.0199	0.0186	0.0031	0	0.0024	0	0.0010	0	0	0.0003	0.0028	0.0234	0.001	0.78490	D	0.059	0.45961	T	0.025	0.19245	B	0.02	0.19048	B	0.029419	0.25458	N	0.460284	0.976992	0.39326	D	2.93	0.84523	M	1.2	0.37405	T	-1.63	0.39119	N	0.198	0.21839	-0.9588	0.39405	T	0.116	0.41097	T	10	0.006309539	0.00142	T	.	.	.	0.200	0.48430	.	.	0.787300041622	0.78532	0.8197709667649028	0.81934	0.742457196902	0.63339	0.362892061472	0.19806	T	0.272725	0.64512	T	-0.39678	0.02430	T	-0.323799	0.42157	T	0.0630453081786486	0.07639	T	0.925407	0.72589	D	0.13762543	0.31859	0.14091061	0.33573	0.13762543	0.31859	0.14091061	0.33572	-3.183	0.12274	T	0.2443072653280299	0.33091	0.089	0.12228	B	.	.	1.797760	0.22853	15.79	0.99806925568530724	0.89085	0.97903	0.78000	D	AEFDGBI	0.699077	0.65654	D	-0.159043220589508	0.34852	1.994568	-0.114613474459995	0.34800	2.005936	0.999999999972496	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.9	4.97	0.65419	4.085000	0.57380	3.868000	0.40172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1331:0.8669:0.0	16.779	0.85421	485	0.77085	RAG1 importin-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.020202	0.002717	0.000000	0.000000	0.000000	0.000000	0.018939	0.05263	6251.83	33	chr11	36573881	.	G	A	6251.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.663;DP=1063;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.979;SOR=0.778	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	17	0	2	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	162.23	33	chr11	36592939	.	C	G	162.23	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-4.758;DP=2093;ExcessHet=0.7564;FS=197.593;InbreedingCoeff=-0.2301;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.28;SOR=10.175	GT:AD:DP:GQ:PL	0/0:136,0:136:31:0,31,3029	9	0	4	6
chr11	36593525	36593525	G	A	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.C644T:p.T215I,RAG2:NM_001243785:exon3:c.C644T:p.T215I,RAG2:NM_001243786:exon3:c.C644T:p.T215I	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	28174	Severe_combined_immunodeficiency,_B_cell-negative|Recombinase_activating_gene_2_deficiency|Histiocytic_medullary_reticulosis|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Inborn_error_of_immunity|not_provided|not_specified|Combined_immunodeficiency_with_skin_granulomas	MedGen:C1867362|MONDO:MONDO:0000573,MedGen:CN257931|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0003778,MedGen:C0398686,Orphanet:101997|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.452	.	.	0.00778754	0.0036	0.0009	0.0003	0.0006	0	2.997e-05	0.0022	0.0250	0.0032535	503	154602	rs35691292	0.0016	0.0016	0.0010	0.0022	0.0239	0.0015	0.0015	0.0231	0.0227	0.0013	0.0001	0	0.0004	0	0.0023	4.856e-05	0.0024	0.0239	0.0011	0.0012	0.0009	0.0014	0.0232	0.0010	0.0010	0.0197	0.0184	0.0012	0	6.539e-05	0	0.0010	0	0	1.47e-05	0.0024	0.0232	0.0	0.91255	D	0.048	0.48594	D	0.51	0.37313	P	0.336	0.42263	B	0.000372	0.45194	D	0.186350	0.999328	0.46670	D	2.25	0.63811	M	-0.82	0.74053	T	-2.65	0.56787	D	0.93	0.93487	-0.1307	0.79385	T	0.445	0.78130	T	10	0.012598813	0.00270	T	.	.	.	0.452	0.75211	.	.	0.893026235512	0.89197	0.5584153648609416	0.55768	0.279056390861	0.30382	0.553429543972	0.46341	T	0.801588	0.94947	D	-0.283243	0.10327	T	-0.160711	0.58288	T	0.0735802314253366	0.09145	T	0.878412	0.59357	D	0.48058102	0.65935	0.56858534	0.75023	0.5398673	0.69390	0.6039507	0.76982	-4.508	0.30993	T	0.1452352143613039	0.16656	0.161	0.35602	B	.;.	.;.	3.669444	0.52172	23.2	0.99699520252934004	0.80522	0.94711	0.62067	D	AEFBI	.	.	.	0.403352317745619	0.61608	4.364049	0.461272630612188	0.65446	4.824594	0.999999999733192	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	5.853000	0.69232	8.710000	0.78133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	19.844	0.96698	367	0.84523	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05263	4879.83	33	chr11	36593525	.	G	A	4879.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=1065;ExcessHet=0.119;FS=6.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.682;SOR=0.919	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	17	0	2	0
chr11	43443462	43443462	A	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon13:c.A1891G:p.M631V,TTC17:NM_001376527:exon14:c.A1975G:p.M659V,TTC17:NM_001376526:exon16:c.A2299G:p.M767V,TTC17:NM_018259:exon17:c.A2389G:p.M797V,TTC17:NM_001307943:exon18:c.A2560G:p.M854V,TTC17:NM_001376525:exon18:c.A2560G:p.M854V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2380660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00439346053492	7.7e-05	.	6.594e-05	0	8.663e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs146876466	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.833e-05	0.0007	0.0005	0	0.0002	0.0004	0	3.744e-05	0.0014	0.0001	9.935e-05	0	0.0001	0.0001	0.0002	0.0001	0.0002	9.748e-05	8.262e-05	0.0002	0.0001	2.414e-05	0	0	0.0009	0	0	0	0.0002	0	0.0002	0.405	0.12754	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000457	0.44317	N	0.258210	0.757955	0.29569	N	-0.55	0.02420	N	1.9	0.23688	T	-0.75	0.21003	N	0.201	0.22228	-0.9948	0.31352	T	0.018	0.07706	T	10	0.024306387	0.00664	T	0.004393	0.10718	T	0.065	0.18881	.	.	0.102598925029	0.09809	0.3714246848491878	0.37056	0.20180106585	0.22587	0.509101271629	0.40096	T	0.012883	0.11245	T	-0.484535	0.00696	T	-0.627801	0.10582	T	0.0500682194826158	0.05513	T	0.831917	0.51841	T	0.039969068	0.05618	0.056206163	0.09999	0.039969068	0.05618	0.056206163	0.09999	-2.481	0.06443	T	.	.	0.170	0.37388	B	.;.	.;.	1.553914	0.19911	14.50	0.89924637808238295	0.19223	0.67041	0.33290	D	AEFBI	0.077570	0.15632	N	-0.561957155001568	0.20110	1.057743	-0.313918421248762	0.27649	1.535694	7.00006841664874E-4	0.07645	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.3	0.36912	3.354000	0.51970	5.440000	0.48617	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.4177:0.2582:0.3241:0.0	2.822	0.05138	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	994.33	37	chr11	43443462	.	A	G	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.43;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1176	18	0	1	0
chr11	44934952	44934952	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318387:exon5:c.C346T:p.R116C,TP53I11:NM_001318388:exon6:c.C343T:p.R115C,TP53I11:NM_001258324:exon7:c.C502T:p.R168C,TP53I11:NM_001318389:exon7:c.C277T:p.R93C,TP53I11:NM_001318390:exon7:c.C268T:p.R90C,TP53I11:NM_006034:exon7:c.C502T:p.R168C,TP53I11:NM_001258321:exon8:c.C502T:p.R168C,TP53I11:NM_001258322:exon8:c.C502T:p.R168C,TP53I11:NM_001258323:exon8:c.C502T:p.R168C,TP53I11:NM_001318384:exon8:c.C502T:p.R168C,TP53I11:NM_001318385:exon8:c.C502T:p.R168C,TP53I11:NM_001318386:exon8:c.C502T:p.R168C,TP53I11:NM_001258320:exon10:c.C502T:p.R168C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00877329797434	7.7e-05	.	1.65e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs150540503	2.873e-05	2.873e-05	3.403e-05	2.338e-05	3.507e-05	2.152e-05	1.908e-05	2.625e-05	2.305e-05	2.987e-05	2.236e-05	0	0	0	0	3.507e-05	1.656e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	6.534e-05	0	0	0	0	0	0	0.0002	0.081	0.33418	T	0.147	0.32783	T	0.01	0.15535	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	1.16	0.29674	L	.	.	.	-3.39	0.66896	D	0.246	0.27792	-0.9782	0.35413	T	0.120	0.41971	T	8	0.13626221	0.25925	T	0.008773	0.23147	T	0.057	0.16321	.	.	0.208816687407	0.20498	0.8619716270970221	0.86161	1.35714377072	0.84207	0.544050812721	0.45018	T	0.232495	0.59907	T	-0.140197	0.29860	T	-0.257632	0.49061	T	0.862268805503845	0.51258	D	0.916508	0.70155	D	0.15047935	0.34255	0.18558617	0.41680	0.15047935	0.34254	0.18558617	0.41679	-4.124	0.25643	T	.	.	0.153	0.33868	B	.;.;.;.;.	.;.;.;.;.	3.721251	0.53179	23.3	0.99883270857779338	0.95892	0.57155	0.30303	D	AEFGBHCI	0.680880	0.64442	D	-0.0787532692277793	0.38325	2.242948	0.115422200782082	0.45335	2.798632	0.999986766177474	0.51787	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	5.1	0.68917	3.520000	0.53221	5.711000	0.49424	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0883:0.0:0.9117:0.0	10.77	0.45516	873	0.30802	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	33	chr11	44934952	.	G	A	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.287;DP=737;ExcessHet=0;FS=5.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.925;SOR=0.67	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	18	0	1	0
chr11	45902506	45902506	C	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.C739T:p.P247S	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0073	0.00319489	0.0099	0.0030	0.0049	0.0002	0.0210	0.0129	0.0098	0.0075	0.006811	1053	154602	rs117665789	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0016	0.0049	0.0016	0.0001	0.0100	0.0036	0.0107	0.0083	0.0071	0.0069	0.0069	0.0070	0.0068	0.0101	0.0065	0.0064	0.0095	0.0092	0.0022	0.0209	0.0058	0.0020	0	0.0104	0	0.0101	0.0076	0.0058	0.031	0.45039	D	0.616	0.09795	T	0.816	0.45573	P	0.245	0.38823	B	0.000011	0.62929	D	0.065445	0.998496	0.44993	D	1.32	0.33002	L	1.24	0.36691	T	-0.62	0.18248	N	0.343	0.42050	-1.1029	0.03758	T	0.044	0.19111	T	10	0.004411131	0.00090	T	.	.	.	0.117	0.32689	.	.	0.368021343446	0.36418	0.1638190692086197	0.16301	1.23262236702	0.81394	0.584953010082	0.50783	T	0.250764	0.62091	T	-0.541355	0.00329	T	-0.541	0.18198	T	0.0128702646338869	0.00220	T	0.693531	0.30321	T	0.11472272	0.27081	0.11416077	0.27556	0.10529684	0.24894	0.11416077	0.27556	-4.158	0.26141	T	.	.	0.081	0.08033	B	.;.	.;.	3.150523	0.42647	21.6	0.99693363987309003	0.80112	0.65112	0.32629	D	AEFBCI	0.496552	0.53145	N	-0.0136159726570341	0.41238	2.463142	0.0303879258557061	0.41132	2.466171	0.998126188882572	0.36460	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.51	4.51	0.54589	4.404000	0.59494	5.809000	0.49993	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	17.771	0.88403	461	0.78683	.;.	.	.	.	.	rs117665789	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	3542.83	35	chr11	45902506	.	C	T	3542.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.801;DP=915;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.171;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	17	0	2	0
chr11	45903154	45903154	G	A	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.G1387A:p.V463I	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0238716936176	0.0002	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0003	0	0.0003	0.0001876	29	154602	rs201654835	0.0001	0.0001	0.0001	0.0001	0.0007	9.803e-05	9.277e-05	0.0003	0.0003	0	0.0004	0	0	3.922e-05	0.0007	8.489e-05	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0006	9.74e-05	8.255e-05	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.113	0.28772	T	0.091	0.41074	T	0.947	0.53479	P	0.362	0.43260	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.65	0.77586	M	0.95	0.43279	T	-0.51	0.15986	N	0.592	0.61172	-0.8907	0.48873	T	0.121	0.42122	T	10	0.18819338	0.34364	T	0.023872	0.46847	T	0.087	0.25287	.	.	0.483898778967	0.48023	0.2689587552835672	0.26808	0.398042137382	0.40875	0.763436734676	0.76441	T	0.458588	0.79651	T	-0.310006	0.07747	T	-0.377102	0.36061	T	0.0524237240873991	0.05920	T	0.876912	0.58964	D	0.16282658	0.36385	0.13142736	0.31558	0.16282658	0.36385	0.13142736	0.31558	-7.593	0.58262	D	.	.	0.164	0.36214	B	.;.	.;.	3.863496	0.56045	23.7	0.99634245549321998	0.76264	0.72708	0.35579	D	AEFDGBCI	0.471670	0.51711	N	0.402867535844866	0.61581	4.361038	0.424490584255321	0.63093	4.536558	0.999991394628772	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	6.682000	0.74361	11.755000	0.95496	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.335	0.87166	459	0.78817	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1736.33	35	chr11	45903154	.	G	A	1736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.109;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.517;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	18	0	1	0
chr11	45928838	45928838	G	A	exonic	LARGE2	.	nonsynonymous SNV	LARGE2:NM_001300721:exon14:c.G2159A:p.R720Q,LARGE2:NM_152312:exon14:c.G2159A:p.R720Q,LARGE2:NM_001300722:exon15:c.G2066A:p.R689Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0018885986882	.	.	3.562e-05	0	0	0	0	1.638e-05	0	0.0002	3.23e-05	5	154602	rs758308941	1.643e-05	1.642e-05	1.362e-05	1.927e-05	0.0002	1.112e-05	9.34e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	1.259e-05	0	0.0001	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.0	0.01387	B	0.000132	0.00470	N	9.285620	1	0.08975	N	0	0.06538	N	0.92	0.44856	T	-0.12	0.08809	N	0.192	0.21449	-1.0120	0.26291	T	0.063	0.26029	T	10	0.06534675	0.08802	T	0.001889	0.03325	T	0.107	0.30369	.	.	0.146414634003	0.14194	0.5588576767168686	0.55812	0.150283844389	0.16954	0.287747561932	0.08595	T	0.005625	0.22034	T	-0.351506	0.04633	T	-0.53909	0.18387	T	0.0979624231153986	0.12131	T	0.493751	0.15260	T	0.16243497	0.36319	0.14228806	0.33856	0.16243497	0.36319	0.14228806	0.33855	-3.699	0.19304	T	.	.	0.072	0.06803	B	.;.;.;.	.;.;.;.	1.978572	0.25134	16.65	0.96024498186754348	0.28486	0.59488	0.30929	D	AEFDBCI	0.189845	0.31708	N	-0.966884104007745	0.09318	0.4404779	-0.935177672707294	0.11268	0.5729862	0.998410003866408	0.36924	0.631515	0.41029	0	0.550933	0.16991	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.79	0.637	0.16907	0.798000	0.26674	-0.164000	0.11293	-0.117000	0.14459	0.350000	0.25759	0.000000	0.08366	0.005000	0.06747	0.3857:0.0:0.6143:0.0	5.868	0.18037	331	0.86429	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	34	chr11	45928838	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.104;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr11	46366381	46366383	CCT	-	exonic	DGKZ	.	nonframeshift deletion	DGKZ:NM_001105540:exon2:c.125_127del:p.S45del	.	413	1104	5	0	0	5	0.00225938	.	.	.	1630224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0045	.	0.0073	0.0016	0.0021	0	0.0389	0.0111	0	0.0004	0.0003842	10	26028	rs750005398	0.0053	0.0054	0.0054	0.0053	0.0055	0.0052	0.0052	0.0054	0.0054	0.0005	0.0008	0.0001	0.0002	0.0258	0.0008	0.0055	0.0048	0.0009	0.0056	0.0056	0.0050	0.0062	0.0070	0.0053	0.0051	0.0065	0.0063	0.0005	0	0.0032	0	0.0004	0.0276	0	0.0070	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000511	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.000000	0.02632	1620.29	68	chr11	46366380	.	GCCT	G	1620.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.83;ReadPosRankSum=-0.026;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	18	0	1	0
chr11	46373045	46373045	G	A	exonic	DGKZ	.	nonsynonymous SNV	DGKZ:NM_001199268:exon13:c.G1201A:p.A401T,DGKZ:NM_001199266:exon14:c.G1270A:p.A424T,DGKZ:NM_001199267:exon14:c.G1267A:p.A423T,DGKZ:NM_003646:exon14:c.G1270A:p.A424T,DGKZ:NM_201532:exon14:c.G1318A:p.A440T,DGKZ:NM_201533:exon14:c.G1282A:p.A428T,DGKZ:NM_001105540:exon15:c.G1834A:p.A612T	.	417	1102	2	1	0	4	0.00181159	.	.	.	1465488	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0224790397337	8.2e-05	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs141331800	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0003	0	0.0002	0	0	0.0004	0.0005	0.0002	0.012	0.55530	D	0.008	0.67890	D	0.485	0.36856	P	0.065	0.27321	B	0.000044	0.53742	D	0.121499	0.998673	0.81001	D	0.835	0.21042	L	2.46	0.22881	T	-0.64	0.18670	N	0.421	0.46555	-1.0228	0.22802	T	0.052	0.21960	T	10	0.119769156	0.22673	T	0.022479	0.45373	T	0.133	0.36157	.	.	0.45212351173	0.44835	0.5720260080858557	0.57130	1.0684435865	0.76718	0.514246106148	0.40817	T	0.134802	0.46626	T	-0.332113	0.05953	T	-0.422685	0.30769	T	0.0771503632933973	0.09619	T	0.968503	0.88585	D	0.085999645	0.19972	0.13140245	0.31554	0.085999645	0.19972	0.13140245	0.31553	-10.163	0.75111	D	.	.	0.090	0.20391	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.599108	0.50823	23.0	0.99475165594927251	0.66579	0.99191	0.92574	D	AEFGBI	0.798618	0.72511	D	-0.0716119576665944	0.38640	2.266305	-0.0631017123394781	0.36929	2.155502	0.999999999990962	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.15	4.15	0.47978	8.129000	0.89477	8.517000	0.77410	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	16.996	0.86242	37	0.98026	.;.;Diacylglycerol kinase, catalytic domain;.;.;.;.;Diacylglycerol kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2474.83	43	chr11	46373045	.	G	A	2474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=1096;ExcessHet=0.119;FS=4.121;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.72;MQRankSum=-0.189;QD=12.96;ReadPosRankSum=0.004;SOR=0.515	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1515	17	0	2	0
chr11	46518425	46518425	G	A	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon9:c.C1804T:p.R602W	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs528703185	0	3.975e-05	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	0.0011	0	0.0009	0	0	0	0	5.509e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	125.43	7	chr11	46518425	.	G	A	125.43	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.303;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0998;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0;SOR=1.981	GT:AD:DP:GQ:PL	./.:11,0:11:0:0,0,187	14	0	1	4
chr11	46680520	46680520	G	A	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon9:c.C787T:p.L263F	.	414	1062	44	2	0	48	0.0220994	.	.	.	724452	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0075	0.0061901	0.0075	0.0015	0.0024	0.0002	0.0011	0.0076	0.0056	0.0211	0.0074255	1148	154602	rs144801476	0.0085	0.0085	0.0081	0.0089	0.0219	0.0083	0.0083	0.0211	0.0207	0.0012	0.0041	0.0073	5.038e-05	0.0010	0.0116	0.0085	0.0084	0.0219	0.0063	0.0063	0.0061	0.0066	0.0220	0.0060	0.0059	0.0186	0.0173	0.0015	0	0.0073	0.0086	0.0002	0.0007	0.0102	0.0093	0.0052	0.0220	0.014	0.53172	D	0.131	0.34596	T	0.944	0.53183	P	0.706	0.54345	P	0.002202	0.37012	N	0.289856	0.990818	0.41242	D	1.59	0.40313	L	1.94	0.22678	T	-2.33	0.51646	N	0.586	0.60664	-0.9359	0.43257	T	0.139	0.45810	T	10	0.010460794	0.00233	T	.	.	.	0.230	0.53062	.	.	0.370424759081	0.36655	0.5728059168516507	0.57208	0.726963817646	0.62542	0.465059936047	0.34003	T	0.229299	0.59508	T	-0.422845	0.01641	T	-0.363244	0.37677	T	0.0448128616842394	0.04568	T	0.966303	0.87634	D	0.34336683	0.56546	0.21950996	0.46693	0.34336683	0.56546	0.21950996	0.46692	-8.915	0.67148	D	.	.	0.456	0.62489	A	.	.	3.736251	0.53476	23.4	0.99819281351141431	0.90238	0.88351	0.48239	D	AEFDGBCI	0.285061	0.39777	N	-0.0191197558799361	0.40991	2.443943	-0.030446427730066	0.38346	2.257928	0.989964223913407	0.31991	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	2.089000	0.41297	7.457000	0.59017	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.1582:0.3719:0.3473:0.1225	3.121	0.06006	17	0.98681	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	chr11:46702070	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015136	0.000000	0.012228	0.023392	0.000000	0.025862	0.009146	0.030534	0.02632	916.33	39	chr11	46680520	.	G	A	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.668;DP=725;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.559;SOR=0.859	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	46682106	46682106	C	T	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon5:c.G394A:p.D132N	.	426	1095	1	0	0	1	0.000456413	.	.	.	2216849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00833706155596	.	.	3.295e-05	0	0	0.0002	0	2.998e-05	0	0	2.59e-05	4	154602	rs764362910	5.678e-05	5.678e-05	5.581e-05	5.775e-05	0.0002	4.676e-05	4.301e-05	9.928e-05	7.224e-05	2.987e-05	0	0	0.0002	0	0	6.115e-05	3.312e-05	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.504	0.08408	T	0.492	0.11479	T	0.005	0.12996	B	0.01	0.14941	B	0.000056	0.53742	D	0.194458	0.999267	0.46490	D	0.615	0.15706	N	1.8	0.25344	T	-0.19	0.09965	N	0.296	0.33469	-1.0811	0.07137	T	0.047	0.20195	T	10	0.1432558	0.27200	T	0.008337	0.22080	T	0.122	0.33800	0.277	0.23004	0.368743488249	0.36480	0.18575645104797986	0.18493	0.285880327356	0.31000	0.706528067589	0.68090	T	0.183804	0.53626	T	-0.456028	0.01040	T	-0.667127	0.07793	T	0.0665910755738929	0.08164	T	0.483352	0.59215	T	0.07442849	0.16702	0.0669337	0.13778	0.07442849	0.16702	0.0669337	0.13778	-2.636	0.06782	T	.	.	0.099	0.16800	B	.;.	.;.	3.891673	0.56626	23.8	0.99477595784271677	0.66687	0.92553	0.55982	D	AEFDGBI	0.487955	0.52648	N	-0.256085229739768	0.30861	1.724848	-0.0602343990414031	0.37052	2.164204	0.99999870308273	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.367000	0.52075	7.650000	0.63651	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	18.508	0.90857	19	0.98577	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	33	chr11	46682106	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=719;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.296;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr11	46703229	46703229	C	T	exonic	ZNF408	.	nonsynonymous SNV	ZNF408:NM_001184751:exon4:c.C614T:p.A205V,ZNF408:NM_024741:exon4:c.C638T:p.A213V	Retinitis pigmentosa 72, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00376630896946	.	.	9.405e-06	0	0	0	0	1.661e-05	0	0	6.5e-06	1	154602	rs771510716	4.792e-06	4.788e-06	1.362e-06	8.259e-06	0.0003	1.99e-06	1.28e-06	6.101e-05	2.525e-05	8.963e-05	0	0	0	0	0.0003	8.996e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.074	0.42976	T	0.07	0.23866	B	0.021	0.19346	B	0.673243	0.06048	N	1.212850	1	0.08975	N	2.075	0.57047	M	2.89	0.10196	T	0.03	0.06612	N	0.205	0.22742	-0.9884	0.33002	T	0.023	0.09923	T	10	0.06943789	0.09962	T	0.003766	0.08744	T	0.101	0.28911	0.463	0.53242	0.0297737177859	0.01360	0.09114680024643541	0.09047	0.229182428038	0.25482	0.279387921095	0.07407	T	0.013633	0.11757	T	-0.24787	0.14362	T	-0.593824	0.13337	T	0.28911167383194	0.24553	T	0.735226	0.35154	T	0.029299948	0.02403	0.04838817	0.07176	0.029299948	0.02403	0.04838817	0.07175	-4.179	0.26447	T	.	.	0.119	0.24396	B	.	.	1.709866	0.21777	15.34	0.99504943073246344	0.68264	0.18949	0.20467	N	AEFDBI	0.065889	0.12874	N	-0.572772942570749	0.19776	1.037613	-0.500103690748259	0.22151	1.201753	0.999998568158768	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	4.96	0.65153	1.437000	0.34601	-0.348000	0.09765	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.762000	0.36218	0.1646:0.7537:0.0:0.0817	7.669	0.27616	26	0.98304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	412.33	33	chr11	46703229	.	C	T	412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.27;DP=627;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.237;SOR=0.567	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	18	0	1	0
chr11	46889524	46889524	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon16:c.G2102A:p.R701H	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.108096509034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749973981	6.158e-06	6.156e-06	5.446e-06	6.877e-06	2.519e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	1.656e-05	0	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.144	0.25255	T	0.598	0.07999	T	0.046	0.21875	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.815	0.20815	L	-2.25	0.87272	D	-1.33	0.33197	N	0.758	0.75650	-0.3400	0.73844	T	0.477	0.79976	T	10	0.5741818	0.65486	D	0.108097	0.78447	D	0.503	0.78538	0.534	0.64293	0.654956258558	0.65207	0.49348610790437275	0.49269	0.77627009895	0.65042	0.683307468891	0.64743	T	0.168327	0.51530	T	0.0814009	0.62205	D	0.0606782	0.74290	D	0.205454496630831	0.20713	T	0.951205	0.81406	D	0.26070684	0.49127	0.12930377	0.31092	0.26070684	0.49127	0.12930377	0.31091	-5.941	0.45783	T	.	.	0.106	0.19720	B	.	.	4.000790	0.58953	24.0	0.99946734528052572	0.99913	0.97501	0.75158	D	AEFGBCI	0.929509	0.91537	D	-0.00315710247508416	0.41712	2.49996	0.216558933785129	0.50764	3.265217	0.999999999999999	0.74766	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.638833	0.57524	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.473	0.94961	12	0.98946	EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	35	chr11	46889524	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.399;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	18	0	1	0
chr11	47161628	47161628	C	T	exonic	C11orf49	.	nonsynonymous SNV	C11orf49:NM_001278222:exon8:c.C959T:p.S320L,C11orf49:NM_001003677:exon9:c.C1004T:p.S335L,C11orf49:NM_024113:exon9:c.C986T:p.S329L	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0700987975551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193673822	2.055e-06	2.052e-06	2.725e-06	1.377e-06	2.324e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	8.998e-07	0	2.324e-05	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.89	0.23688	T	-2.04	0.47175	N	0.731	0.73465	-0.8913	0.48820	T	0.166	0.50453	T	10	0.7145424	0.73260	D	0.070099	0.70912	D	0.219	0.51417	.	.	0.478068462777	0.47436	0.3837148648925186	0.38286	0.149056855963	0.16805	.	.	.	0.134533	0.46584	T	-0.00415443	0.51081	T	-0.143114	0.59847	T	0.943623781204224	0.61897	D	0.874313	0.58483	D	0.44275248	0.63580	0.4186141	0.65879	0.44275248	0.63580	0.4186141	0.65879	-4.478	0.30784	T	.	.	0.278	0.51254	B	.;.	.;.	4.230176	0.64047	24.7	0.99746516546685893	0.83927	0.95978	0.66984	D	ALL	0.860520	0.77839	D	0.689918659851674	0.78971	6.980406	0.631138333983927	0.77213	6.63622	0.999999999999997	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.24	5.24	0.72863	6.487000	0.73540	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	0.0:1.0:0.0:0.0	19.379	0.94513	23	0.98420	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	404.33	27	chr11	47161628	.	C	T	404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=591;ExcessHet=0;FS=3.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.278;SOR=1.609	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	18	0	1	0
chr11	47237933	47237933	G	A	exonic	DDB2	.	nonsynonymous SNV	DDB2:NM_001300734:exon4:c.G553A:p.V185M,DDB2:NM_000107:exon8:c.G1120A:p.V374M	Xeroderma pigmentosum, group E, DDB-negative subtype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1684584	Xeroderma_pigmentosum	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0294067871312	0.0003	0.000599042	8.237e-05	0.0010	0	0	0	0	0	0	8.41e-05	13	154602	rs148299549	4.583e-05	4.583e-05	5.173e-05	3.988e-05	0.0010	3.661e-05	3.347e-05	0.0007	0.0007	0.0010	8.944e-05	0	0	0	0.0002	8.093e-06	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	6.548e-05	0	0	0	0	0	0	0.0002	0.13	0.32141	T	0.127	0.37872	T	0.601	0.49848	P	0.054	0.41327	B	0.080468	0.20922	N	0.551776	1	0.81001	D	1.735	0.44892	L	-0.5	0.70480	T	-0.92	0.24676	N	0.29	0.51851	-0.8160	0.54183	T	0.170	0.51036	T	10	0.03231749	0.01381	T	0.029407	0.51922	D	0.045	0.12272	.	.	0.808182242251	0.80638	0.5334863084106345	0.53273	0.450847767521	0.44848	0.500459432602	0.38893	T	0.204586	0.56339	T	-0.381962	0.03028	T	-0.377787	0.35981	T	0.0159116566759486	0.00376	T	0.882612	0.62120	D	0.08056569	0.18467	0.055125155	0.09611	0.08056569	0.18467	0.055125155	0.09610	-4.982	0.39993	T	.	.	0.157	0.45786	B	.;.;.	.;.;.	2.001268	0.25425	16.76	0.98231180277338148	0.39396	0.27164	0.23200	N	AEFGBCI	0.093038	0.18830	N	-0.182452684818295	0.33867	1.926252	-0.196914154084052	0.31649	1.793146	0.998895903617003	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.08	0.352	0.15287	0.209000	0.17231	0.553000	0.19438	0.676000	0.76740	0.578000	0.27570	0.878000	0.27671	0.972000	0.54974	0.3528:0.0:0.5442:0.1031	8.352	0.31471	33	0.98110	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2969.33	33	chr11	47237933	.	G	A	2969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=834;ExcessHet=0;FS=4.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.033;SOR=0.449	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1282	18	0	1	0
chr11	47267965	47267965	T	A	exonic	NR1H3	.	nonsynonymous SNV	NR1H3:NM_001363595:exon6:c.T726A:p.N242K,NR1H3:NM_001130101:exon7:c.T861A:p.N287K,NR1H3:NM_001130102:exon7:c.T906A:p.N302K,NR1H3:NM_001251934:exon8:c.T1059A:p.N353K,NR1H3:NM_001251935:exon8:c.T1059A:p.N353K,NR1H3:NM_005693:exon8:c.T1041A:p.N347K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.145592489608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.47745	T	0.289	0.30143	T	0.771	0.56202	P	0.584	0.57014	P	0.000000	0.84330	D	0.000000	0.999906	0.50806	D	0.905	0.23240	L	-3.97	0.96243	D	-1.21	0.34992	N	0.535	0.57433	0.241	0.86590	D	0.771	0.92223	D	10	0.5629481	0.64890	D	0.145592	0.82777	D	0.393	0.70844	0.562	0.68229	0.86371597195	0.86239	0.8050695336711845	0.80460	1.19724128425	0.80435	0.847135066986	0.89181	D	0.41152	0.92297	T	0.0879879	0.62961	D	-0.111388	0.62499	T	0.859626650810242	0.51017	D	0.860114	0.55285	D	0.44572732	0.63770	0.15650328	0.36637	0.44572732	0.63771	0.15650328	0.36637	-11.299	0.81272	D	0.09522993311768813	0.06459	0.172	0.62023	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.175032	0.27721	17.56	0.99084540202667704	0.52051	0.80925	0.40442	D	AEFDBI	0.798400	0.72495	D	-0.302140010191861	0.29067	1.608665	-0.272678568876237	0.29003	1.62145	0.999948502165377	0.47345	0.741868	0.97996	0	0.709663	0.81188	0	0.774882	0.98623	0	0.655142	0.61905	0	.	.	5.32	-1.13	0.09274	0.011000	0.13162	-4.823000	0.01970	0.665000	0.62972	0.957000	0.33433	0.000000	0.08366	1.000000	0.97212	0.0:0.3429:0.1259:0.5312	6.450	0.21100	20	0.98525	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1235.33	34	chr11	47267965	.	T	A	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.935;DP=741;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.175;SOR=0.561	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1249,0,1726	18	0	1	0
chr11	47290759	47290759	G	C	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376662:exon16:c.G2674C:p.G892R,MADD:NM_001376663:exon17:c.G2578C:p.G860R,MADD:NM_001376583:exon18:c.G3142C:p.G1048R,MADD:NM_001376611:exon18:c.G3142C:p.G1048R,MADD:NM_001376613:exon18:c.G3142C:p.G1048R,MADD:NM_001376614:exon18:c.G3142C:p.G1048R,MADD:NM_001376620:exon18:c.G3040C:p.G1014R,MADD:NM_001376644:exon18:c.G2911C:p.G971R,MADD:NM_001376647:exon18:c.G2911C:p.G971R,MADD:NM_001376650:exon18:c.G3013C:p.G1005R,MADD:NM_001376657:exon18:c.G3040C:p.G1014R,MADD:NM_001376658:exon18:c.G3013C:p.G1005R,MADD:NM_001376660:exon18:c.G2911C:p.G971R,MADD:NM_001135943:exon19:c.G3115C:p.G1039R,MADD:NM_001135944:exon19:c.G3115C:p.G1039R,MADD:NM_001376575:exon19:c.G3244C:p.G1082R,MADD:NM_001376576:exon19:c.G3244C:p.G1082R,MADD:NM_001376577:exon19:c.G3244C:p.G1082R,MADD:NM_001376578:exon19:c.G3217C:p.G1073R,MADD:NM_001376579:exon19:c.G3244C:p.G1082R,MADD:NM_001376580:exon19:c.G3244C:p.G1082R,MADD:NM_001376584:exon19:c.G3244C:p.G1082R,MADD:NM_001376585:exon19:c.G3115C:p.G1039R,MADD:NM_001376593:exon19:c.G3244C:p.G1082R,MADD:NM_001376594:exon19:c.G3244C:p.G1082R,MADD:NM_001376595:exon19:c.G3115C:p.G1039R,MADD:NM_001376596:exon19:c.G3322C:p.G1108R,MADD:NM_001376597:exon19:c.G3115C:p.G1039R,MADD:NM_001376598:exon19:c.G3115C:p.G1039R,MADD:NM_001376603:exon19:c.G3115C:p.G1039R,MADD:NM_001376604:exon19:c.G3115C:p.G1039R,MADD:NM_001376608:exon19:c.G3244C:p.G1082R,MADD:NM_001376610:exon19:c.G3244C:p.G1082R,MADD:NM_001376612:exon19:c.G3244C:p.G1082R,MADD:NM_001376615:exon19:c.G3115C:p.G1039R,MADD:NM_001376616:exon19:c.G3115C:p.G1039R,MADD:NM_001376618:exon19:c.G3115C:p.G1039R,MADD:NM_001376619:exon19:c.G3115C:p.G1039R,MADD:NM_001376621:exon19:c.G3115C:p.G1039R,MADD:NM_001376622:exon19:c.G3244C:p.G1082R,MADD:NM_001376623:exon19:c.G3244C:p.G1082R,MADD:NM_001376626:exon19:c.G3100C:p.G1034R,MADD:NM_001376627:exon19:c.G2971C:p.G991R,MADD:NM_001376631:exon19:c.G3217C:p.G1073R,MADD:NM_001376635:exon19:c.G2971C:p.G991R,MADD:NM_001376640:exon19:c.G3115C:p.G1039R,MADD:NM_001376641:exon19:c.G3115C:p.G1039R,MADD:NM_001376645:exon19:c.G3115C:p.G1039R,MADD:NM_001376646:exon19:c.G2971C:p.G991R,MADD:NM_001376648:exon19:c.G3100C:p.G1034R,MADD:NM_001376649:exon19:c.G3088C:p.G1030R,MADD:NM_001376651:exon19:c.G3115C:p.G1039R,MADD:NM_001376652:exon19:c.G3115C:p.G1039R,MADD:NM_001376653:exon19:c.G3115C:p.G1039R,MADD:NM_001376654:exon19:c.G2971C:p.G991R,MADD:NM_001376656:exon19:c.G3115C:p.G1039R,MADD:NM_001376659:exon19:c.G2971C:p.G991R,MADD:NM_001376661:exon19:c.G3115C:p.G1039R,MADD:NM_130470:exon19:c.G3244C:p.G1082R,MADD:NM_130472:exon19:c.G3115C:p.G1039R,MADD:NM_130474:exon19:c.G3115C:p.G1039R,MADD:NM_130476:exon19:c.G3244C:p.G1082R,MADD:NM_001376571:exon20:c.G3304C:p.G1102R,MADD:NM_001376572:exon20:c.G3304C:p.G1102R,MADD:NM_001376573:exon20:c.G3304C:p.G1102R,MADD:NM_001376574:exon20:c.G3304C:p.G1102R,MADD:NM_001376581:exon20:c.G3175C:p.G1059R,MADD:NM_001376582:exon20:c.G3175C:p.G1059R,MADD:NM_001376586:exon20:c.G3175C:p.G1059R,MADD:NM_001376599:exon20:c.G3304C:p.G1102R,MADD:NM_001376600:exon20:c.G3304C:p.G1102R,MADD:NM_001376601:exon20:c.G3304C:p.G1102R,MADD:NM_001376602:exon20:c.G3151C:p.G1051R,MADD:NM_001376605:exon20:c.G3304C:p.G1102R,MADD:NM_001376606:exon20:c.G3304C:p.G1102R,MADD:NM_001376607:exon20:c.G3175C:p.G1059R,MADD:NM_001376609:exon20:c.G3304C:p.G1102R,MADD:NM_001376617:exon20:c.G3175C:p.G1059R,MADD:NM_001376624:exon20:c.G3175C:p.G1059R,MADD:NM_001376625:exon20:c.G3175C:p.G1059R,MADD:NM_001376628:exon20:c.G3175C:p.G1059R,MADD:NM_001376629:exon20:c.G3175C:p.G1059R,MADD:NM_001376630:exon20:c.G3175C:p.G1059R,MADD:NM_001376632:exon20:c.G3148C:p.G1050R,MADD:NM_001376633:exon20:c.G3304C:p.G1102R,MADD:NM_001376634:exon20:c.G3304C:p.G1102R,MADD:NM_001376636:exon20:c.G3175C:p.G1059R,MADD:NM_001376637:exon20:c.G3175C:p.G1059R,MADD:NM_001376638:exon20:c.G3175C:p.G1059R,MADD:NM_001376639:exon20:c.G3175C:p.G1059R,MADD:NM_001376642:exon20:c.G3175C:p.G1059R,MADD:NM_001376643:exon20:c.G3175C:p.G1059R,MADD:NM_001376655:exon20:c.G3115C:p.G1039R,MADD:NM_003682:exon20:c.G3304C:p.G1102R,MADD:NM_130471:exon20:c.G3175C:p.G1059R,MADD:NM_130473:exon20:c.G3304C:p.G1102R,MADD:NM_130475:exon20:c.G3304C:p.G1102R	.	413	1107	2	0	0	2	0.000902527	.	.	.	2365785	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0102770697233	0.0002	.	0.0004	9.645e-05	0.0003	0	0	0.0006	0	0.0001	0.0004398	68	154602	rs146167487	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0003	0	0	0.0001	0.0003	0.0009	0.0006	0.0004	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0007	0	0	0	0	0.0010	0.0005	0.0006	0.019	0.65419	D	0.09	0.43159	T	0.997	0.70673	D	0.951	0.68939	D	0.005532	0.32720	N	0.322809	0.999881	0.52396	D	1.355	0.33814	L	3.39	0.07125	T	-3.4	0.67014	D	0.479	0.51405	-1.1705	0.00530	T	0.038	0.16548	T	10	0.08526948	0.14379	T	0.010277	0.26632	T	0.122	0.33800	.	.	0.298056030225	0.29408	0.3821748914215902	0.38132	0.349277998776	0.36782	0.503858923912	0.39365	T	0.062031	0.72288	T	-0.392087	0.02608	T	-0.429897	0.29947	T	0.0629482537156686	0.07625	T	0.981369	0.93662	D	0.13773465	0.31880	0.24098791	0.49485	0.1455753	0.33363	0.22639284	0.47615	-4.306	0.28330	T	.	.	0.284	0.54947	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.409466	0.47284	22.4	0.99872073491849123	0.94989	0.96389	0.68899	D	AEFGBI	0.527355	0.54933	D	0.278906384348696	0.55079	3.672422	0.263173531806628	0.53402	3.50939	0.0745511489212553	0.15669	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.41	2.48	0.29194	3.495000	0.53043	4.540000	0.43760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2218:0.0:0.7782:0.0	10.155	0.41989	16	0.98727	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	34	chr11	47290759	.	G	C	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.535;SOR=0.68	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	47335928	47335928	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon25:c.G2686A:p.V896M	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	3	1507	12	0	0	12	0.00396563	.	.	.	51822	Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4|Cardiomyopathy|Left_ventricular_noncompaction_10|not_specified|not_provided|Cardiovascular_phenotype|MYBPC3-related_disorder	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0037	0.00159744	0.0128	0.0025	0.0032	0	0.0986	0.0183	0.0056	0.0007	0.0041332	639	154602	rs35078470	0.0055	0.0055	0.0055	0.0055	0.0056	0.0054	0.0054	0.0055	0.0054	0.0004	0.0006	0.0002	2.786e-05	0.0261	0.0009	0.0056	0.0050	0.0007	0.0057	0.0057	0.0052	0.0063	0.0074	0.0054	0.0053	0.0069	0.0066	0.0005	0	0.0032	0	0.0004	0.0271	0	0.0074	0.0033	0.0002	0.026	0.47320	D	0.069	0.44106	T	.	.	.	.	.	.	.	.	.	.	0.97131	0.25659	N	1.48	0.37141	L	0.38	0.57575	T	-1.81	0.42575	N	0.184	0.22098	-1.0226	0.22866	T	0.062	0.25815	T	9	0.008191198	0.00186	T	.	.	.	0.214	0.50650	.	.	0.652799619513	0.64990	0.3604967217639329	0.35963	0.231211013671	0.25664	0.452297091484	0.32258	T	0.149674	0.48879	T	-0.331359	0.06009	T	-0.239355	0.50861	T	0.0113753775464302	0.00169	T	0.872113	0.57861	D	0.20164938	0.42183	0.28305122	0.54296	0.21949111	0.44483	0.23648001	0.48920	-4.724	0.33693	T	0.4513158534412659	0.53507	0.182	0.50763	B	.;.;.	.;.;.	3.504028	0.49039	22.7	0.99387886465847319	0.62202	0.15740	0.19059	N	AEFDBCI	0.392910	0.47077	N	-0.512489298898595	0.21674	1.152055	-0.446536711630378	0.23647	1.290689	0.98932281013228	0.31789	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.35	2.21	0.27042	1.008000	0.29475	0.736000	0.21123	0.587000	0.30956	0.027000	0.20232	0.005000	0.19230	0.996000	0.76049	0.0:0.4777:0.1757:0.3466	4.094	0.09454	17	0.98681	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	rs35078470	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001018	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007692	0.02632	958.33	59	chr11	47335928	.	C	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=720;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=1.27;SOR=0.502	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1202	18	0	1	0
chr11	47346320	47346320	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon12:c.G977A:p.R326Q	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	51983	Hypertrophic_cardiomyopathy_4|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Primary_dilated_cardiomyopathy|Premature_ventricular_contraction|Cardiomyopathy|not_provided|Left_ventricular_noncompaction_10|Dilated_cardiomyopathy_1A|Cardiovascular_phenotype	MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|MONDO:MONDO:0007269,MedGen:C5979868,OMIM:115200,Orphanet:300751|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0025	0.000798722	0.0055	0.0004	0.0013	0	0.0155	0.0078	0.0029	0.0009	0.0039068	604	154602	rs34580776	0.0030	0.0030	0.0029	0.0030	0.0056	0.0029	0.0029	0.0040	0.0035	0.0002	0.0007	0.0005	0	0.0128	0.0056	0.0030	0.0028	0.0007	0.0035	0.0035	0.0029	0.0041	0.0050	0.0032	0.0031	0.0045	0.0044	0.0002	0	0.0005	0.0012	0	0.0152	0.0068	0.0050	0.0024	0.0008	0.026	0.47320	D	0.048	0.48855	D	0.046	0.21875	B	0.009	0.14300	B	.	.	.	.	0.784634	0.34310	D	2.2	0.62015	M	0.35	0.58323	T	-1.59	0.38345	N	0.266	0.30118	-0.7825	0.56161	T	0.115	0.40717	T	9	0.0062505305	0.00141	T	.	.	.	0.078	0.22779	.	.	0.836203837585	0.83464	0.37549856997446823	0.37463	0.258872466173	0.28441	0.551675438881	0.46094	T	0.262852	0.63447	T	-0.470838	0.00840	T	-0.442138	0.28569	T	0.0118430688592453	0.00184	T	0.956104	0.83363	D	0.15626739	0.35273	0.12901963	0.31031	0.13204284	0.30759	0.13189328	0.31660	-7.187	0.55388	T	0.1617806110163004	0.19829	0.137	0.41541	B	.;.;.	.;.;.	3.570152	0.50282	22.9	0.99874561200912515	0.95160	0.88877	0.49021	D	AEFDGBI	0.705996	0.66120	D	-0.0544102588932143	0.39404	2.32329	0.0950405038850003	0.44299	2.71434	0.977705539970523	0.29847	0.569682	0.32691	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.7	4.7	0.58776	1.164000	0.31420	3.959000	0.40733	0.597000	0.34315	0.305000	0.25370	0.999000	0.35428	0.961000	0.51904	0.0:0.9163:0.0:0.0837	11.343	0.48782	17	0.98681	.;.;.	.	.	.	.	rs34580776	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1244.33	33	chr11	47346320	.	C	T	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.778;DP=720;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.472;SOR=0.362	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	47351388	47351388	T	C	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon2:c.A143G:p.D48G	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	4009940	Cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.398	0.457918063704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	0	2.76e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.996	0.68779	D	0.916	0.65201	D	.	.	.	.	0.999999	0.58761	D	2.54	0.74080	M	-0.34	0.68474	T	-2.69	0.57435	D	0.544	0.61172	-0.1427	0.79098	T	0.424	0.76790	T	9	0.78724784	0.78352	D	0.457918	0.94460	D	0.398	0.71242	0.439	0.49321	0.908003746345	0.90708	0.5899469713267508	0.58924	0.936948820389	0.72059	0.481811463833	0.36307	T	0.257955	0.62905	T	0.112262	0.65587	D	-0.0765202	0.65158	T	0.978535115718842	0.72374	D	0.855114	0.54241	D	0.66688854	0.76267	0.6408551	0.79017	0.66688854	0.76268	0.6408551	0.79018	-6.099	0.47100	T	.	.	0.528	0.76156	A	.;.;.	.;.;.	3.692893	0.52622	23.3	0.99728178733820882	0.82549	0.97815	0.77336	D	AEFDGBIJ	0.981362	0.99872	D	0.487633164834135	0.66368	4.940924	0.388372785602028	0.60849	4.277094	0.999998847827559	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	4.27	4.27	0.50009	7.485000	0.80221	7.812000	0.69465	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.0:0.0:1.0	13.557	0.61230	18	0.98631	Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	36	chr11	47351388	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=793;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.557;SOR=0.872	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1295	18	0	1	0
chr11	47571628	47571628	G	C	exonic	PTPMT1	.	stoploss	PTPMT1:NM_175732:exon4:c.G605C:p.X202S	.	429	1046	45	2	0	49	0.0228865	.	.	.	724472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00479233	0.0048	0.0006	0.0021	0	0.0003	0.0031	0.0056	0.0206	0.0044889	694	154602	rs190036505	0.0045	0.0045	0.0040	0.0050	0.0216	0.0044	0.0044	0.0208	0.0205	0.0003	0.0034	0.0059	2.519e-05	0.0003	0.0097	0.0036	0.0057	0.0216	0.0033	0.0033	0.0030	0.0036	0.0176	0.0031	0.0030	0.0146	0.0135	0.0006	0	0.0064	0.0075	0	9.432e-05	0.0034	0.0038	0.0028	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	.	.	.	.	.	.	.	.	.	0.019	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.708386	0.00033	T	-0.774067	0.02637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.093886	0.14780	11.32	0.81204982214846133	0.13571	0.23723	0.22168	N	AEFDBI	.	.	.	0.427615056586219	0.62947	4.519161	0.117655390967351	0.45451	2.808114	0.999995454322416	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.322829	0.05601	0	0.0548293	0.12563	5.71	3.83	0.43287	1.475000	0.35017	4.555000	0.43818	0.656000	0.54149	0.275000	0.25094	1.000000	0.68203	0.258000	0.23468	0.1734:0.0:0.8266:0.0	8.671	0.33314	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.000000	0.000000	0.000000	0.024390	0.018939	0.02632	665.33	33	chr11	47571628	.	G	C	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=680;ExcessHet=0;FS=2.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.65;SOR=0.336	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	18	0	1	0
chr11	47572989	47572989	C	T	exonic	KBTBD4	.	nonsynonymous SNV	KBTBD4:NM_001318716:exon4:c.G1645A:p.V549I,KBTBD4:NM_001318717:exon4:c.G1615A:p.V539I,KBTBD4:NM_001318718:exon4:c.G1573A:p.V525I,KBTBD4:NM_001318719:exon4:c.G1573A:p.V525I,KBTBD4:NM_001318720:exon4:c.G1567A:p.V523I,KBTBD4:NM_001318721:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318722:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318723:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318724:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318725:exon4:c.G1498A:p.V500I,KBTBD4:NM_016506:exon4:c.G1498A:p.V500I,KBTBD4:NM_018095:exon4:c.G1546A:p.V516I	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0161146445525	0.0006	.	0.0006	9.615e-05	0.0003	0	0	0.0009	0	0.0002	0.0006533	101	154602	rs3207211	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	0.0001	0.0003	3.826e-05	5.038e-05	0.0002	0.0003	0.0011	0.0006	0.0004	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0001	0	0.0007	0	0.0002	0.0002	0	0.0014	0	0.0006	0.626	0.06564	T	0.077	0.42794	T	0.001	0.07471	B	0.001	0.06944	B	0.000650	0.42656	N	0.234830	0.998222	0.44650	D	0.695	0.17993	N	-0.57	0.72237	T	-0.08	0.08653	N	0.099	0.10626	-1.0156	0.25143	T	0.115	0.40695	T	10	0.017309755	0.00369	T	0.016115	0.37217	T	0.123	0.34020	.	.	0.433379234345	0.42955	0.26117693650283424	0.26030	0.254023765242	0.27974	0.339329302311	0.16338	T	0.029034	0.20895	T	-0.460601	0.00975	T	-0.479949	0.24452	T	0.00650259433548907	0.00073	T	.	.	.	0.030994564	0.02859	0.026088694	0.00681	0.030994564	0.02859	0.026088694	0.00681	-4.371	0.29489	T	.	.	0.087	0.13362	B	.;.;.;.	.;.;.;.	1.092140	0.14757	11.30	0.84028491209954415	0.15056	0.81911	0.41223	D	AEFDGBCI	0.110278	0.21874	N	-0.790601789048639	0.13553	0.668546	-0.681853126183911	0.17414	0.9258855	0.999999839817492	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	-2.09	0.06831	2.064000	0.41059	-0.442000	0.09154	0.599000	0.40250	0.956000	0.33378	0.000000	0.08366	0.990000	0.65344	0.0968:0.498:0.1052:0.3	3.746	0.08073	10	0.99061	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1671.33	36	chr11	47572989	.	C	T	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=794;ExcessHet=0;FS=2.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.11;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1310	18	0	1	0
chr11	47582409	47582409	G	A	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon6:c.G568A:p.D190N	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.409931679302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.65571	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-2.18	0.86722	D	-4.68	0.79659	D	0.944	0.95139	0.972	0.96731	D	0.874	0.95827	D	10	0.96990573	0.96560	D	0.409932	0.93576	D	0.820	0.94238	0.854	0.95434	0.997857792206	0.99783	0.7786817528532826	0.77819	0.996152370031	0.74244	0.86248755455	0.91478	D	0.777606	0.94099	D	0.166052	0.70760	D	0.00074552	0.70385	D	0.998606860637665	0.94620	D	.	.	.	0.91972697	0.93221	0.95349807	0.98606	0.91972697	0.93222	0.95349807	0.98606	-13.979	0.92988	D	.	.	0.978	0.90700	P	.	.	5.549887	0.92040	32	0.99927741992339469	0.99163	0.97638	0.76075	D	AEFDBCI	0.954586	0.97179	D	1.10161587908791	0.98163	17.57607	1.03001059278736	0.99127	20.807	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.585000	0.97377	11.859000	0.98275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.206	0.98279	10	0.99061	NADH:ubiquinone oxidoreductase, 30kDa subunit|NADH:ubiquinone oxidoreductase, 30kDa subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3102.33	33	chr11	47582409	.	G	A	3102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=840;ExcessHet=0;FS=10.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.689;SOR=0.287	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	47582437	47582437	G	A	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon6:c.G596A:p.R199Q	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1517	5	0	0	5	0.00164528	.	.	YES	513602	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.898	0.321702672537	.	.	4.118e-05	0	8.637e-05	0.0001	0	0	0	0.0002	3.23e-05	5	154602	rs771783839	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	6.708e-05	0	5.038e-05	0	0.0002	2.518e-05	8.28e-05	0.0004	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.745	0.99558	H	-3.25	0.93532	D	-3.74	0.71042	D	0.979	0.98929	1.082	0.98934	D	0.947	0.98280	D	10	0.9873537	0.99097	D	0.321703	0.91493	D	0.898	0.97135	0.942	0.99232	0.999745636659	0.99974	0.898359588866317	0.89806	1.09733963927	0.77622	0.80695271492	0.83024	D	0.766605	0.93720	D	0.323241	0.84702	D	0.486216	0.94316	D	0.94035416841507	0.61262	D	.	.	.	0.85096586	0.87407	0.75389916	0.85455	0.8621162	0.88249	0.77287805	0.86595	-12.259	0.86089	D	.	.	0.956	0.87520	P	.	.	6.096395	0.94551	34	0.99953904631919543	0.99963	0.97640	0.76089	D	AEFDBCI	0.951533	0.96618	D	1.16896347268934	0.99214	21.26115	1.08148840886981	0.99675	25.09818	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.585000	0.97377	11.859000	0.98275	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.206	0.98279	10	0.99061	NADH:ubiquinone oxidoreductase, 30kDa subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	33	chr11	47582437	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=793;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.477;SOR=0.765	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	47584332	47584332	G	C	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon7:c.G646C:p.V216L	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0350321696625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0034	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	4.475e-05	3.845e-05	0	0	0.0002	0.0002	0.0001	9.318e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.03262	T	0.593	0.08134	T	0.004	0.12183	B	0.009	0.14300	B	0.000000	0.84330	D	0.052661	1	0.81001	D	0.54	0.13725	N	-1.0	0.76037	T	-0.51	0.15986	N	0.109	0.09490	-0.8237	0.53702	T	0.214	0.57586	T	10	0.21773726	0.38394	T	0.035032	0.56079	D	0.372	0.69102	0.312	0.28612	0.820884894196	0.81919	0.4530228563642822	0.45220	0.297120083394	0.32095	0.764023125172	0.76529	T	0.151429	0.49137	T	-0.0315146	0.47197	T	-0.283045	0.46490	T	0.776293694972992	0.44821	D	.	.	.	0.2676909	0.49841	0.20849794	0.45154	0.2676909	0.49841	0.20849794	0.45153	-2.162	0.03860	T	.	.	0.187	0.40360	B	.	.	2.544374	0.32919	19.19	0.96720140085668693	0.30847	0.95990	0.67036	D	AEFDGBCI	0.888539	0.82176	D	-0.185157986660485	0.33751	1.918463	0.0633119293219945	0.42721	2.588866	0.999999621208179	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	5.095000	0.64363	8.715000	0.78146	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.210000	0.22183	0.0:0.0:1.0:0.0	20.177	0.98187	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	360.58	38	chr11	47584332	.	G	C	360.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.136;DP=928;ExcessHet=0.119;FS=424.778;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=-0.75;SOR=7.742	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:74,0:74:0:.:.:0,0,1911:.	16	0	2	1
chr11	47587769	47587769	C	G	exonic	FAM180B	.	nonsynonymous SNV	FAM180B:NM_001164379:exon2:c.C104G:p.T35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00386068031807	0.0002	0.00139776	0.0003	0.0023	0	0	0	0	0	0	8.41e-05	13	154602	rs141304714	8.978e-05	8.482e-05	9.575e-05	8.365e-05	0.0029	7.629e-05	7.193e-05	0.0024	0.0022	0.0029	0.0001	0	0	0	0.0002	3.715e-06	0.0004	1.272e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	0	0	0.0002	0.142	0.25457	T	0.132	0.34477	T	.	.	.	.	.	.	0.923852	0.07493	N	1.048350	1	0.08975	N	.	.	.	1.48	0.31731	T	0.57	0.02638	N	0.252	0.28498	-1.0249	0.22116	T	0.028	0.11795	T	10	0.0046453476	0.00097	T	0.003861	0.09055	T	0.063	0.18251	.	.	0.0297737177859	0.01360	.	.	.	.	0.364943683147	0.20103	T	0.018993	0.15211	T	-0.521541	0.00431	T	-0.529198	0.19367	T	0.023229335050109	0.01051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.593589	0.20381	14.72	0.96784611229637807	0.31087	0.21774	0.21519	N	ALL	0.143714	0.26649	N	-0.482374296605139	0.22658	1.211435	-0.380283072639077	0.25586	1.407929	0.999999089697438	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.11	4.17	0.48303	1.202000	0.31878	2.098000	0.30587	0.599000	0.40250	0.401000	0.26178	0.501000	0.25205	0.973000	0.55318	0.2118:0.6919:0.0:0.0963	6.149	0.19519	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	33	chr11	47587769	.	C	G	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=721;ExcessHet=0;FS=4.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-2.617;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	18	0	1	0
chr11	47750927	47750927	C	T	exonic	FNBP4	.	nonsynonymous SNV	FNBP4:NM_001318339:exon6:c.G901A:p.E301K,FNBP4:NM_015308:exon6:c.G895A:p.E299K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0180584413184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.18	0.29442	T	0.997	0.70673	D	0.985	0.76457	D	0.000286	0.46274	D	0.223492	0.999778	0.48980	D	1.75	0.45442	L	1.4	0.33630	T	-0.99	0.26200	N	0.635	0.64818	-0.9464	0.41582	T	0.147	0.47273	T	10	0.55040175	0.64222	D	0.018058	0.39994	T	0.095	0.27398	0.218	0.13932	0.335916738318	0.33200	0.21176197549124928	0.21092	0.757533882034	0.64076	0.703738093376	0.67685	T	0.001996	0.01403	T	-0.104852	0.35621	T	-0.388389	0.34739	T	0.803231973505413	0.46574	D	.	.	.	0.17693844	0.38634	0.1512832	0.35643	0.17693844	0.38633	0.1512832	0.35642	-3.906	0.22393	T	.	.	0.511	0.65091	A	.	.	4.456368	0.69317	25.4	0.99885712033935781	0.96126	0.98207	0.80539	D	AEFDBI	0.503960	0.53573	D	0.17705702628314	0.50099	3.203209	0.155988695269315	0.47460	2.975917	0.12158219883628	0.16894	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.78	0.60666	5.550000	0.66974	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9304:0.0:0.0696	14.684	0.68645	14	0.98855	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	39	chr11	47750927	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=741;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-1.8;SOR=0.397	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1344	18	0	1	0
chr11	47848303	47848303	C	A	exonic	NUP160	.	nonsynonymous SNV	NUP160:NM_001318399:exon1:c.G118T:p.A40S,NUP160:NM_015231:exon1:c.G118T:p.A40S	.	415	1094	11	1	1	14	0.00590641	.	.	.	1662120	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	0.00659644264226	0.0031	0.000998403	0.0029	0.0025	0.0006	0	0.0009	0.0038	0.0023	0.0035	0.0027037	418	154602	rs2305984	0.0022	0.0022	0.0021	0.0022	0.0082	0.0021	0.0021	0.0063	0.0056	0.0021	0.0010	0.0101	2.519e-05	0.0010	0.0082	0.0021	0.0024	0.0029	0.0025	0.0025	0.0025	0.0025	0.0029	0.0023	0.0022	0.0024	0.0023	0.0025	0	0.0014	0.0107	0.0002	0.0006	0.0136	0.0027	0.0052	0.0029	0.488	0.08813	T	0.534	0.09965	T	0.001	0.22494	B	0.001	0.22329	B	0.212600	0.16329	N	0.572712	1	0.20516	P	0	0.06538	N	1.49	0.48769	T	0.16	0.06868	N	0.106	0.09066	-0.9513	0.40747	T	0.061	0.25492	T	9	0.007934034	0.00180	T	0.006596	0.17386	T	0.014	0.01968	.	.	0.168933306366	0.16529	0.16610236180677404	0.16530	0.181975155132	0.20459	0.603792905807	0.53439	T	0.009829	0.08919	T	-0.643867	0.00079	T	-0.699752	0.05840	T	0.00322486483557388	0.00034	T	.	.	.	0.038951226	0.05285	0.0616373	0.11934	0.038951226	0.05285	0.0616373	0.11933	-3.912	0.22482	T	.	.	0.080	0.07554	B	.;.	.;.	0.912150	0.12864	9.378	0.70929330870893792	0.09458	0.17755	0.19974	N	ALL	0.047312	0.07954	N	-1.22654120302645	0.04618	0.2088065	-1.19316865482438	0.06023	0.2886987	0.999999999999966	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.85	-2.6	0.05830	-0.101000	0.10943	-0.078000	0.12213	-2.088000	0.00400	0.791000	0.29607	0.450000	0.24948	0.073000	0.16832	0.4641:0.4659:0.0:0.07	10.303	0.42846	17	0.98681	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1452.33	35	chr11	47848303	.	C	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=788;ExcessHet=0;FS=2.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.39;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	47980971	47980971	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon1:c.C59T:p.A20V,PTPRJ:NM_002843:exon1:c.C59T:p.A20V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.325066551618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-06	7.528e-06	5.45e-06	2.036e-06	0.0004	9e-07	6.1e-07	8.9e-07	2.5e-07	0	0	0	0	0	0.0004	3.351e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.884	0.48618	P	0.028	0.21332	B	.	.	.	.	0.999951	0.19072	N	0	0.06538	N	1.58	0.59851	T	-0.47	0.23590	N	0.101	0.13198	-1.0444	0.16000	T	0.067	0.27606	T	9	0.16415998	0.30719	T	0.325067	0.91588	D	0.054	0.15330	0.28	0.23483	0.564798353577	0.56142	0.1043093477809479	0.10360	0.484296959142	0.47345	0.635471105576	0.57921	T	0.048426	0.37853	T	-0.116495	0.33699	T	-0.405114	0.32789	T	0.476813812794801	0.31780	T	0.477152	0.18642	T	0.105247624	0.24882	0.1118501	0.26984	0.105247624	0.24882	0.1118501	0.26983	-4.557	0.31767	T	.	.	0.404	0.59777	A	.;.;.;.;.;.	.;.;.;.;.;.	3.026186	0.40518	21.2	0.98092641179179418	0.38206	0.32323	0.24557	N	ALL	0.077596	0.15637	N	-0.305333434930208	0.28945	1.60084	-0.273270269567027	0.28983	1.62019	0.999999816234695	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	2.45	1.51	0.22094	0.973000	0.29020	2.539000	0.33206	0.418000	0.20770	0.013000	0.18845	0.998000	0.33993	0.929000	0.46594	0.0:0.823:0.0:0.177	5.024	0.13718	98	0.95963	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.08	8	chr11	47980971	.	C	T	31.08	.	AC=2;AF=0.056;AN=36;DP=95;ExcessHet=0;FS=0;InbreedingCoeff=0.4348;MLEAC=1;MLEAF=0.028;MQ=60;QD=15.54;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,50	17	1	0	1
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del,PTPRJ:NM_002843:exon1:c.66_68del:p.L28del	Colon cancer, somatic	322	1192	8	0	0	8	0.00334448	.	.	.	3511870	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011416	0.000000	0.024390	0.014706	0.000000	0.000000	0.000000	0.017857	0.02778	50.59	10	chr11	47980977	.	CGCT	C	50.59	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.282;DP=98;ExcessHet=0;FS=0;InbreedingCoeff=-0.0776;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.812;SOR=0.495	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,50	17	0	1	1
chr11	48121137	48121137	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon4:c.A487G:p.I163V,PTPRJ:NM_002843:exon4:c.A487G:p.I163V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00350894911407	.	.	3.302e-05	9.653e-05	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs759473798	1.095e-05	1.094e-05	1.497e-05	6.875e-06	0.0001	6.48e-06	5.24e-06	5.804e-05	3.952e-05	2.987e-05	0.0001	0	0	0	0	7.194e-06	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.526	0.07116	T	0.543	0.09690	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	0.65	0.56446	T	0.03	0.10308	N	0.036	0.01068	-1.0467	0.15332	T	0.036	0.15334	T	9	0.029842824	0.01111	T	0.003509	0.07969	T	0.027	0.05988	.	.	0.0762999501168	0.06990	0.10018350454263737	0.09949	0.191156484107	0.21440	0.239668056369	0.02761	T	0.039825	0.35035	T	-0.542616	0.00323	T	-0.747907	0.03568	T	0.012518315905784	0.00207	T	0.310469	0.06031	T	0.029641164	0.02492	0.031685807	0.01792	0.029641164	0.02492	0.031685807	0.01792	-2.559	0.06198	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	-1.785251	0.00162	0.002	0.16071361227848457	0.00417	0.00971	0.03712	N	AEFGBI	0.043922	0.07004	N	-2.28452480040223	0.00049	0.002117381	-2.31967981204565	0.00060	0.002633468	0.999999868325085	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.6	-9.21	0.00578	-1.462000	0.02470	.	.	-3.438000	0.00085	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2901:0.0983:0.4089:0.2026	2.941	0.05472	138	0.94518	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2150.33	37	chr11	48121137	.	A	G	2150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=902;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.474;SOR=0.52	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,100,1538	18	0	1	0
chr11	48127939	48127939	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1253A:p.R418H,PTPRJ:NM_002843:exon7:c.G1253A:p.R418H	Colon cancer, somatic	0	1515	7	0	0	7	0.00230491	.	.	.	207866	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0048	0.00159744	0.0056	0.0012	0.0013	0	0.0302	0.0066	0.0099	0.0006	0.0052328	809	154602	rs61739179	0.0058	0.0058	0.0058	0.0058	0.0060	0.0057	0.0057	0.0059	0.0058	0.0007	0.0008	0.0002	2.519e-05	0.0265	0.0005	0.0060	0.0050	0.0008	0.0059	0.0059	0.0054	0.0064	0.0079	0.0056	0.0054	0.0073	0.0071	0.0007	0	0.0020	0	0.0004	0.0272	0.0034	0.0079	0.0024	0.0002	0.432	0.10311	T	0.201	0.27503	T	0.007	0.14184	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	0.42	0.56937	T	0.24	0.04776	N	0.057	0.03069	-1.0067	0.27943	T	0.055	0.23224	T	9	0.0035292208	0.00063	T	.	.	.	0.054	0.15330	.	.	0.227934060464	0.22382	0.17812311156083024	0.17731	0.285971366995	0.31006	0.189527139068	0.00217	T	0.059434	0.41065	T	-0.680901	0.00047	T	-0.740455	0.03871	T	0.00372451952340471	0.00039	T	0.30057	0.08365	T	0.014512716	0.00096	0.036567293	0.03131	0.016028756	0.00171	0.043514933	0.05431	-4.636	0.37420	T	.	.	0.073	0.08609	B	.;.;.;.	.;.;.;.	-1.914476	0.00123	0.002	0.80157116752360968	0.13071	0.00536	0.02476	N	AEFDGBI	0.027186	0.02178	N	-1.57496451654306	0.01394	0.0607787	-1.70867958946712	0.01099	0.04939891	0.999999996067313	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	-10.1	0.00330	-3.243000	0.00601	.	.	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2021:0.0:0.6663:0.1316	13.645	0.61750	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	rs61739179	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3879.33	275	chr11	48127939	.	G	A	3879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=933;ExcessHet=0;FS=4.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.379;SOR=0.48	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	18	0	1	0
chr11	48130501	48130501	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon8:c.C1400T:p.T467M,PTPRJ:NM_002843:exon8:c.C1400T:p.T467M	Colon cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0394444168347	0.0004	.	0.0002	0	0	0	0.0002	0.0003	0	0.0001	0.000194	30	154602	rs148162486	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	2.99e-05	8.956e-05	0.0002	0	3.744e-05	0.0003	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	4.816e-05	0	0.0005	0.0003	0	0	0	0.0004	0.0005	0.0002	0.124	0.27426	T	0.089	0.54934	T	0.403	0.34918	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	1.415	0.35607	L	0.56	0.54540	T	-3.02	0.62630	D	0.109	0.10483	-0.9112	0.46707	T	0.135	0.44914	T	9	0.05774644	0.06680	T	0.039444	0.58814	D	0.104	0.29647	.	.	0.43965937752	0.43585	0.4371215117246725	0.43629	0.280752349232	0.30549	0.263269484043	0.05286	T	0.212157	0.78148	T	-0.508358	0.00513	T	-0.649924	0.08958	T	0.0436991628206849	0.04366	T	0.59464	0.24680	T	0.023819257	0.01156	0.07671443	0.17018	0.023819257	0.01155	0.07671443	0.17017	-7.938	0.60647	D	.	.	0.137	0.30739	B	.;.;.;.	.;.;.;.	-0.007021	0.04236	1.043	0.99253074996885593	0.56957	0.02988	0.07843	N	AEFGBI	0.053671	0.09690	N	-0.922774750199099	0.10310	0.4920998	-1.07170833804899	0.08260	0.4053849	0.999964471298563	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.71	-2.81	0.05459	-0.873000	0.04322	.	.	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4484:0.0:0.5516	10.949	0.46533	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1281.33	35	chr11	48130501	.	C	T	1281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.568;DP=729;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.56;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	18	0	1	0
chr11	48130511	48130511	C	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon8:c.C1410G:p.I470M,PTPRJ:NM_002843:exon8:c.C1410G:p.I470M	Colon cancer, somatic	0	1506	15	0	1	16	0.0049554	.	.	.	3207171	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.221	0.0704267908221	0.0008	0.000399361	0.0009	9.614e-05	0.0002	0	0	0.0009	0.0033	0.0029	0.000815	126	154602	rs141853869	0.0008	0.0008	0.0007	0.0009	0.0052	0.0007	0.0007	0.0037	0.0033	2.991e-05	0.0004	0.0033	0.0001	7.489e-05	0.0052	0.0006	0.0011	0.0030	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0.0003	0	0.0002	0.0026	0	0.0003	0	0.0007	0.0009	0.0025	0.007	0.68238	D	0.007	0.69154	D	0.991	0.64070	D	0.927	0.66185	D	.	.	.	.	1	0.19072	N	2.205	0.62170	M	0.35	0.58029	T	-1.6	0.47852	N	0.573	0.59901	-0.6627	0.62157	T	0.263	0.63458	T	9	0.025517017	0.00744	T	0.070427	0.71001	D	0.221	0.51721	.	.	0.55973633643	0.55634	0.5413254697788727	0.54057	0.827406979319	0.67474	0.340228527784	0.16473	T	0.097963	0.55259	T	-0.374165	0.03389	T	-0.314542	0.43169	T	0.0932946162053477	0.11603	T	0.636336	0.25328	T	0.10300454	0.24344	0.124236524	0.29947	0.11606378	0.27381	0.14157389	0.33708	-4.93	0.39486	T	.	.	0.126	0.31980	B	.;.;.;.	.;.;.;.	0.608153	0.09765	6.533	0.98577963343857589	0.43206	0.26124	0.22902	N	AEFGBI	0.153363	0.27820	N	-0.458090945984254	0.23467	1.26038	-0.695823800056109	0.17065	0.9056831	0.999990151226676	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	-4.16	0.03606	-0.753000	0.04897	.	.	-0.826000	0.02916	0.108000	0.22953	0.000000	0.08366	0.001000	0.02609	0.0:0.6009:0.0:0.3991	13.514	0.60989	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003033	0.000000	0.001359	0.002924	0.000000	0.017241	0.003086	0.000000	0.05263	2308.83	35	chr11	48130511	.	C	G	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.097;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	17	0	2	0
chr11	48216903	48216903	G	A	exonic	OR4B1	.	nonsynonymous SNV	OR4B1:NM_001005470:exon1:c.G94A:p.V32M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00314021609026	0.0023	0.000399361	0.0018	0.0005	0.0011	0	0	0.0028	0.0022	0.0010	0.0018952	293	154602	rs149679682	0.0034	0.0034	0.0036	0.0032	0.0041	0.0033	0.0033	0.0040	0.0040	0.0006	0.0009	0	2.519e-05	0.0003	0.0007	0.0041	0.0040	0.0009	0.0019	0.0019	0.0021	0.0015	0.0035	0.0017	0.0016	0.0031	0.0030	0.0005	0	0.0009	0	0	0.0004	0	0.0035	0.0014	0.0008	0.42	0.09836	T	0.26	0.23029	T	0.124	0.26825	B	0.027	0.21085	B	0.237276	0.15789	N	0.568971	0.999969	0.18878	N	-0.115	0.04602	N	7.41	0.00408	T	-0.4	0.13805	N	0.051	0.02272	-1.0077	0.27634	T	0.000	0.00152	T	10	0.016532809	0.00349	T	0.00314	0.06845	T	0.005	0.00259	.	.	0.101711395817	0.09552	0.09792305809065764	0.09723	0.00532159262164	0.00468	0.239629909396	0.02758	T	0.003357	0.02758	T	-0.714651	0.00030	T	-0.798507	0.01940	T	0.00165388567913155	0.00017	T	0.858114	0.54842	D	0.037060037	0.04679	0.034273732	0.02464	0.037060037	0.04679	0.034273732	0.02464	-4.613	0.32335	T	.	.	0.095	0.15025	B	.	.	0.444432	0.08144	4.877	0.60165701209349831	0.06398	0.03742	0.09043	N	AEFGI	0.044659	0.07214	N	-1.09222360354575	0.06785	0.3133731	-1.07472030194108	0.08200	0.402145	0.012299186786324	0.12307	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	-0.321	0.12087	-2.690000	0.00903	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4635:0.0:0.3651:0.1714	3.759	0.08122	137	0.94565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1204.33	43	chr11	48216903	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=2149;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.608;SOR=0.651	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	18	0	1	0
chr11	49034211	49034211	T	G	exonic	TRIM49B	.	nonsynonymous SNV	TRIM49B:NM_001206626:exon4:c.T573G:p.H191Q	.	555	965	2	0	0	2	0.0010352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0023235036798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.132e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.44	0.36004	L	3.63	0.04353	T	-2.45	0.53577	N	0.16	0.16725	-0.9574	0.39662	T	0.018	0.07518	T	6	0.10346818	0.19022	T	0.002324	0.04479	T	0.054	0.15330	0.571	0.69431	0.0482279557977	0.04254	0.011179449716623784	0.01077	1.77852846044	0.91373	0.588129758835	0.51229	T	0.074669	0.34994	T	-0.382476	0.03006	T	-0.787177	0.02243	T	0.0614861522662565	0.07400	T	0.380262	0.09172	T	0.13900717	0.32127	0.14321564	0.34043	0.13900717	0.32127	0.14321564	0.34042	-4.523	0.31188	T	.	.	0.116	0.23465	B	.;.	.;.	-0.609357	0.01547	0.101	0.46413849297317122	0.03716	0.00081	0.00551	N	AEFI	0.019368	0.00666	N	-0.869148266123517	0.11581	0.5596946	-1.13919058220606	0.06963	0.3370097	1.53334039614145E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.689	-1.38	0.08554	-1.763000	0.01900	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	190	0.92594	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3225.33	44	chr11	49034211	.	T	G	3225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=1034;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.06;MQRankSum=-2.436;QD=11.08;ReadPosRankSum=-0.751;SOR=0.589	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr11	49952672	49952672	C	A	exonic	OR4C13	.	nonsynonymous SNV	OR4C13:NM_001001955:exon1:c.C250A:p.L84I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00101307032507	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781828575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.092	0.39954	T	0.005	0.12996	B	0.039	0.23607	B	0.091152	0.20340	N	0.356468	1	0.08975	N	2.475	0.71894	M	5.59	0.00834	T	-1.45	0.35597	N	0.093	0.07262	-0.9389	0.42790	T	0.004	0.01400	T	9	0.070384234	0.10231	T	0.001013	0.01096	T	0.018	0.03083	0.421	0.46365	0.178374595973	0.17440	0.014486949231952225	0.01405	9.22648080292E-4	0.00079	0.467525362968	0.34341	T	0.005457	0.04911	T	-0.287597	0.09879	T	-0.650889	0.08893	T	0.102099448442459	0.12587	T	0.771423	0.40183	T	0.06897675	0.15073	0.10497502	0.25225	0.06897675	0.15073	0.10497502	0.25225	-6.324	0.48912	T	.	.	0.078	0.06710	B	.	.	2.343346	0.30033	18.31	0.93827749863634891	0.23813	0.08067	0.14040	N	AEFI	0.054020	0.09785	N	-0.84955933833849	0.12060	0.5856209	-0.931850112655923	0.11344	0.5773741	4.92769673023654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.95	2.02	0.25641	-0.229000	0.09106	.	.	-0.760000	0.03515	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7099:0.0:0.2901	4.987	0.13540	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2703.33	35	chr11	49952672	.	C	A	2703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=958;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=1.02;QD=13.65;ReadPosRankSum=-0.326;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1298	18	0	1	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	103.77	102	chr11	49981809	.	C	G	103.77	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.788;DP=1506;ExcessHet=0.3672;FS=171.973;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.088;MQ=59.99;MQRankSum=0;QD=0.38;ReadPosRankSum=2.6;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:14:.:.:0,14,2389:.	14	0	3	2
chr11	49982483	49982483	C	T	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G19A:p.V7M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00223370222462	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs112929537	2.758e-06	3.421e-06	2.746e-06	2.771e-06	6.025e-05	6.5e-07	4.4e-07	9.98e-06	3.73e-06	6.025e-05	0	0	0	0	0	0	3.335e-05	0	6.568e-06	6.562e-06	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.034	0.52727	D	0.883	0.48537	P	0.573	0.49966	P	0.201351	0.16592	U	0.425883	0.643916	0.30592	N	2.96	0.85114	M	5.57	0.00853	T	-2.63	0.56466	D	0.179	0.19325	-1.1281	0.01875	T	0.009	0.03448	T	10	0.22046617	0.38744	T	0.002234	0.04233	T	0.097	0.27909	0.626	0.76141	0.203808441222	0.19973	0.11833606904113636	0.11760	0.0126781612516	0.01211	0.535866260529	0.43862	T	0.04352	0.26528	T	-0.149638	0.28367	T	-0.452721	0.27396	T	0.975770115852356	0.71078	D	.	.	.	0.20054024	0.42033	0.25887722	0.51627	0.20054024	0.42032	0.25887722	0.51626	-6.72	0.51961	T	.	.	0.131	0.28116	B	.	.	2.489507	0.32114	18.95	0.99741584485727564	0.83555	0.10527	0.16009	N	AEFI	0.104701	0.20942	N	0.111302736477227	0.46989	2.931062	-0.0195110980102624	0.38834	2.293703	0.0337064751386126	0.14118	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	3.31	0.37025	1.142000	0.31152	.	.	0.250000	0.18327	0.407000	0.26226	0.000000	0.08366	0.030000	0.13115	0.0:1.0:0.0:0.0	12.618	0.55944	224	0.91330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	980.33	37	chr11	49982483	.	C	T	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=765;ExcessHet=0;FS=7.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.001;SOR=1.7	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	50032939	50032939	G	A	exonic	OR4C45	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252683884	0.0004	0.0003	0.0004	0.0004	0.0179	0.0004	0.0004	0.0164	0.0158	0.0179	0.0004	0	8.102e-05	0	0	1.196e-06	0.0008	4.469e-05	0.0037	0.0038	0.0037	0.0038	0.0133	0.0035	0.0034	0.0124	0.0120	0.0133	0	0.0009	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1865.33	40	chr11	50032939	.	G	A	1865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.875;DP=1183;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-0.771;QD=15.54;ReadPosRankSum=-0.383;SOR=0.491	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr11	54603299	54603299	C	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.G700T:p.A234S	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0011275449255	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs759801521	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0012	1.111e-05	9.34e-06	0.0006	0.0004	0	2.236e-05	0	2.52e-05	0	0.0012	8.996e-06	4.97e-05	2.319e-05	1.315e-05	1.313e-05	0	2.69e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.87	0.00331	T	-2.93	0.61284	D	0.505	0.53708	.	.	.	.	.	.	.	0.44415787	0.58289	T	.	.	.	.	.	.	.	.	.	0.7896737787908608	0.78919	.	.	.	.	.	0.009812	0.08903	T	.	.	.	.	.	.	.	.	.	0.831917	0.49916	T	.	.	.	.	.	.	.	.	-8.0	0.61071	D	.	.	0.122	0.25331	B	.	.	3.866877	0.56112	23.7	.	.	.	.	.	.	0.324249	0.42620	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.434000	0.59679	.	.	0.217000	0.18040	1.000000	0.71638	0.894000	0.27871	0.070000	0.16646	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2214.33	41	chr11	54603299	.	C	A	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.983;DP=1707;ExcessHet=0;FS=0.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-1.331;QD=11.91;ReadPosRankSum=-1.289;SOR=0.759	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	18	0	1	0
chr11	54603375	54603375	G	T	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C624A:p.N208K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.236e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.243	0.24193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.22	0.37052	T	-2.53	0.54864	D	0.208	0.23125	.	.	.	.	.	.	.	0.11588934	0.21847	T	.	.	.	.	.	.	.	.	.	0.9084473673679309	0.90817	.	.	.	.	.	0.011388	0.10166	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-6.664	0.51539	T	.	.	0.281	0.51445	B	.	.	1.925695	0.24457	16.40	.	.	.	.	.	.	0.053921	0.09758	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.941000	0.04035	.	.	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	41	chr11	54603375	.	G	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1497;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.04;MQRankSum=0.562;QD=9.49;ReadPosRankSum=0.566;SOR=0.816	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	18	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V	.	428	1078	15	1	0	17	0.00782329	.	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3918.83	41	chr11	54603676	.	G	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.406;DP=1609;ExcessHet=0.119;FS=3.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=1.03;QD=12.76;ReadPosRankSum=2.49;SOR=0.89	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2221,0,3088	17	0	2	0
chr11	55343560	55343571	CTATGTGGCTAT	-	exonic	OR4A16	.	nonframeshift deletion	OR4A16:NM_001005274:exon1:c.360_371del:p.Y121_I124del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374379880	2.737e-06	2.736e-06	2.723e-06	2.75e-06	5.976e-05	6.4e-07	4.3e-07	9.9e-06	3.7e-06	5.976e-05	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4519.29	275	chr11	55343559	.	GCTATGTGGCTAT	G	4519.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=1867;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=0.673;SOR=0.617	GT:AD:DP:GQ:PL	0/0:319,0:319:99:0,120,1800	18	0	1	0
chr11	55343569	55343569	T	0	exonic	OR4A16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5642.02	275	chr11	55343569	.	T	*	5642.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=1884;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-4.038;QD=6.05;ReadPosRankSum=1.15;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:248,0:324:99:0|1:55343569_T_C:2396,3142,13231:55343569	18	0	1	0
chr11	55650922	55650922	G	A	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.G19A:p.V7I	.	587	924	6	5	0	16	0.00858369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0022	0.00878594	0.0069	0.0006	0.0015	0	0.0235	0.0043	0.0052	0.0233	0.0057244	885	154602	rs145635951	0.0048	0.0048	0.0042	0.0054	0.0190	0.0047	0.0047	0.0182	0.0179	0.0005	0.0016	0.0015	2.929e-05	0.0207	0.0042	0.0034	0.0047	0.0190	0.0040	0.0041	0.0026	0.0054	0.0198	0.0037	0.0036	0.0164	0.0151	0.0003	0	0.0005	0.0022	0.0002	0.0236	0	0.0036	0.0022	0.0198	0.158	0.23905	T	0.195	0.28032	T	0.225	0.30426	B	0.016	0.17743	B	0.006710	0.31850	N	0.141107	1	0.08975	N	2.15	0.60148	M	5.89	0.00629	T	-0.61	0.18042	N	0.044	0.01658	-0.8961	0.48380	T	0.003	0.00800	T	10	0.0023490489	0.00035	T	.	.	.	0.036	0.09122	.	.	0.292062946507	0.28806	0.10252447023312405	0.10182	0.0324401509581	0.03388	0.286191225052	0.08370	T	0.007666	0.07062	T	-0.702187	0.00035	T	-0.786035	0.02276	T	0.00707196976343677	0.00081	T	0.876912	0.58964	D	0.051794764	0.09565	0.05576347	0.09843	0.051794764	0.09565	0.05576347	0.09843	-4.895	0.35678	T	.	.	0.100	0.17060	B	.;.	.;.	2.287716	0.29260	18.06	0.93264363516291859	0.22959	0.00229	0.01284	N	AEFI	0.016542	0.00378	N	-0.637402919959838	0.17830	0.9207691	-0.63976103781499	0.18475	0.9871397	1.26479000049538E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	1.02	0.19102	-1.710000	0.01988	0.159000	0.15383	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.513:0.0:0.487:0.0	7.012	0.24048	151	0.94052	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003838	0.000000	0.001471	0.003247	0.000000	0.009091	0.003268	0.004237	0.02941	2735.13	34	chr11	55650922	.	G	A	2735.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.6;DP=787;ExcessHet=0;FS=8.561;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.94;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	16	0	1	2
chr11	55650977	55650977	G	C	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.G74C:p.C25S	.	568	950	3	1	0	5	0.00262467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00276799925992	.	0.00119808	0.0008	0	0.0003	0	0	0	0.0012	0.0056	0.0006598	102	154602	rs529689088	0.0004	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	2.907e-05	0	0.0006	4.367e-05	0.0007	0.0048	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0.0005	0	0	0.0001	0.0005	0.0036	0.055	0.38407	T	0.055	0.46862	T	0.913	0.50474	P	0.367	0.43430	B	0.000017	0.62929	D	0.000000	0.999991	0.08975	N	0.86	0.21358	L	4.1	0.02944	T	-4.86	0.81187	D	0.097	0.07811	-0.9005	0.47942	T	0.007	0.02360	T	10	0.008666813	0.00196	T	0.002768	0.05752	T	0.153	0.40148	0.621	0.75576	0.229924730088	0.22615	0.1645564805620609	0.16375	0.0428451685236	0.04625	0.266961395741	0.05748	T	0.039312	0.25147	T	-0.510441	0.00499	T	-0.504347	0.21897	T	0.130657562357949	0.15443	T	0.569643	0.20265	T	0.3095304	0.53745	0.39341882	0.64062	0.3095304	0.53745	0.39341882	0.64062	-3.668	0.18847	T	.	.	0.207	0.43407	B	.;.	.;.	2.060200	0.26197	17.03	0.90126243399129369	0.19406	0.08186	0.14147	N	AEFI	0.081200	0.16429	N	-0.218637914077587	0.32369	1.824765	-0.245837291895151	0.29915	1.679933	2.68029590390478E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	4.39	0.52211	-0.195000	0.09546	-10.624000	0.00682	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0887:0.0:0.5928:0.3185	5.995	0.18721	151	0.94052	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	3730.42	34	chr11	55650977	.	G	C	3730.42	.	AC=2;AF=0.059;AN=34;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.059;MQ=60;QD=31.09;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	16	1	0	2
chr11	55651541	55651541	T	A	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.T638A:p.L213Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0061	0.00479233	0.0017	0.0172	0.0004	0	0	3.237e-05	0	6.483e-05	0.0014489	224	154602	rs78077484	0.0006	0.0005	0.0006	0.0005	0.0197	0.0005	0.0005	0.0184	0.0179	0.0197	0.0007	0	5.788e-05	0	0.0014	4.832e-06	0.0011	7.437e-05	0.0049	0.0049	0.0050	0.0047	0.0164	0.0046	0.0044	0.0153	0.0149	0.0164	0	0.0012	0	0	0	0	0	0.0022	0	0.0	0.91255	D	0.001	0.83351	D	0.953	0.54283	P	0.863	0.61398	P	0.013049	0.28968	N	0.161095	0.999999	0.08975	N	4.185	0.97748	H	8.34	0.00254	T	-4.08	0.74742	D	0.377	0.41853	-1.0576	0.12362	T	0.002	0.00585	T	10	0.004522443	0.00093	T	.	.	.	0.101	0.28911	.	.	0.50024110626	0.49660	0.31817064862095623	0.31730	0.260787108543	0.28638	0.20374506712	0.00573	T	0.039645	0.25260	T	-0.497832	0.00588	T	-0.472941	0.25200	T	0.0980893544472458	0.12146	T	0.583942	0.21221	T	0.9028335	0.91638	0.9043453	0.95285	0.9028335	0.91639	0.9043453	0.95285	-12.841	0.88697	D	.	.	0.398	0.59466	A	.;.	.;.	3.842409	0.55612	23.6	0.99187897915290413	0.54877	0.24604	0.22445	N	AEFI	0.083653	0.16950	N	0.412075627092182	0.62085	4.418808	0.224144239203452	0.51191	3.303746	0.0102194031806701	0.11986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	3.049000	0.49560	0.812000	0.21762	0.554000	0.28208	0.107000	0.22934	0.001000	0.17328	0.910000	0.44547	0.0:0.0:0.0:1.0	14.162	0.64986	151	0.94052	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001088	0.000000	0.002907	0.006369	0.000000	0.000000	0.000000	0.000000	0.02941	2394.13	34	chr11	55651541	.	T	A	2394.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.78;DP=785;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.137;SOR=0.605	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	16	0	1	2
chr11	55665738	55665738	A	T	exonic	OR4C6	.	nonsynonymous SNV	OR4C6:NM_001004704:exon1:c.A572T:p.H191L	.	.	.	.	.	.	.	.	.	.	.	4005181	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00172569771517	.	0.000199681	8.241e-06	9.615e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs112579144	7.525e-06	7.524e-06	8.168e-06	6.876e-06	0.0001	4.04e-06	2.95e-06	5.852e-05	3.76e-05	0.0001	2.237e-05	0	0	0	0	0	4.968e-05	2.319e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	9.655e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	0	0	0	0.056	0.38185	T	0.039	0.51112	D	0.001	0.07471	B	0.012	0.16012	B	0.734413	0.09827	N	0.838847	1	0.08975	N	1.555	0.39373	L	8.74	0.00084	T	-5.59	0.86527	D	0.153	0.15749	-0.9950	0.31299	T	0.001	0.00188	T	10	0.061587423	0.07744	T	0.001726	0.02882	T	0.041	0.10877	.	.	0.242825505644	0.23883	0.09946311418779279	0.09877	0.00172631857531	0.00144	0.215545326471	0.01069	T	0.018315	0.14784	T	-0.401376	0.02268	T	-0.632797	0.10203	T	0.0427444651722908	0.04190	T	0.488051	0.14953	T	0.19128488	0.40749	0.19795796	0.43605	0.19128488	0.40749	0.19795796	0.43604	-6.376	0.49322	T	.	.	0.096	0.17657	B	.;.	.;.	1.389815	0.18026	13.50	0.68064726076175719	0.08544	0.05454	0.11332	N	AEFI	0.057485	0.10712	N	-1.03066547397134	0.07972	0.3721996	-1.09109764339325	0.07874	0.3848245	1.38003023615016E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	1.43	0.21585	0.148000	0.16042	-5.849000	0.01575	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5303:0.3158:0.0:0.1539	5.764	0.17483	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2639.33	37	chr11	55665738	.	A	T	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=849;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.584;SOR=0.783	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.02632	1623.33	33	chr11	55773543	.	G	A	1623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.61;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr11	55811887	55811887	C	G	exonic	OR5L1	.	nonsynonymous SNV	OR5L1:NM_001004738:exon1:c.C421G:p.R141G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0169280019912	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372180673	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.36423	P	0.425	0.45259	B	0.038975	0.24223	N	0.359275	1	0.08975	N	0.46	0.12951	N	.	.	.	.	.	.	.	.	-0.9942	0.31512	T	0.096	0.36029	T	10	0.09323755	0.16485	T	0.016928	0.38413	T	.	.	0.375	0.38830	.	.	0.32136225111024147	0.32049	.	.	0.197783902287	0.00395	T	0.004787	0.04206	T	-0.222204	0.17695	T	-0.556957	0.16663	T	0.230394721031189	0.21970	T	0.244976	0.03588	T	0.08967133	0.20959	0.091841474	0.21612	0.08967133	0.20959	0.091841474	0.21612	-2.328	0.04711	T	.	.	0.122	0.25429	B	.	.	1.521985	0.19539	14.31	0.90205242394330143	0.19479	0.06564	0.12577	N	AEFGI	0.056185	0.10365	N	-0.974377675990792	0.09153	0.4320412	-1.08863266806146	0.07923	0.3873897	6.36326099761863E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	1.61	0.22752	0.016000	0.13272	-3.518000	0.02726	-2.529000	0.00254	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0985:0.0:0.9015	9.876	0.40371	155	0.93937	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3245.33	34	chr11	55811887	.	C	G	3245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=2342;ExcessHet=0;FS=1.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.227;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1344	18	0	1	0
chr11	55993868	55993868	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C758T:p.A253V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00228134455281	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357198027	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0.0002	8.993e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.004	0.74150	D	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.665	0.02058	N	1.31	0.35405	T	-2.81	0.59389	D	0.112	0.09914	-1.0075	0.27696	T	0.040	0.17404	T	9	0.06813869	0.09594	T	0.002281	0.04369	T	0.063	0.18251	0.618	0.75232	0.17258766438	0.16869	0.06325553919893287	0.06264	0.0115365840659	0.01082	0.175625368953	0.00060	T	0.008567	0.07859	T	-0.389882	0.02695	T	-0.714949	0.05043	T	0.0625779311944859	0.07570	T	0.0237976	0.00141	T	0.11246496	0.26568	0.108594805	0.26160	0.11246496	0.26568	0.108594805	0.26160	-4.387	0.29381	T	.	.	0.114	0.22573	B	.	.	1.893595	0.24054	16.25	0.95963295818665173	0.28306	0.00980	0.03737	N	AEFI	0.018740	0.00592	N	-1.15739805707408	0.05659	0.2585616	-1.1803907556998	0.06238	0.2996295	1.10228645761253E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.99	0.198	0.14448	-0.472000	0.06702	-20.000000	0.00162	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.6927:0.3073:0.0	10.860	0.46028	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	99	chr11	55993868	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=1660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.875;SOR=0.739	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	18	0	1	0
chr11	55994258	55994258	T	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.A368T:p.Y123F	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00292536995958	0.0045	0.00119808	0.0040	0.0009	0.0022	0	0.0073	0.0055	0.0022	0.0022	0.0041203	637	154602	rs140060499	0.0057	0.0057	0.0058	0.0055	0.0065	0.0056	0.0055	0.0064	0.0063	0.0011	0.0017	0.0023	2.519e-05	0.0080	0.0045	0.0065	0.0041	0.0023	0.0044	0.0044	0.0046	0.0043	0.0062	0.0042	0.0041	0.0057	0.0055	0.0014	0.0439	0.0018	0.0012	0	0.0093	0.0102	0.0062	0.0019	0.0039	0.111	0.29029	T	0.061	0.45530	T	0.998	0.73220	D	0.924	0.65913	D	.	.	.	.	0.853422	0.28463	N	1.175	0.29870	L	4.48	0.02067	T	-3.42	0.67241	D	0.294	0.33250	-1.0986	0.04265	T	0.014	0.05657	T	9	0.007176608	0.00163	T	0.002925	0.06192	T	0.116	0.32463	.	.	0.192905019026	0.18896	0.11663367998974775	0.11591	0.0700158727979	0.07844	0.221169352531	0.01379	T	0.011423	0.10197	T	-0.510189	0.00501	T	-0.49923	0.22427	T	0.0325702758902604	0.02400	T	0.656534	0.26618	T	0.27875063	0.50928	0.20272325	0.44315	0.27875063	0.50927	0.20272325	0.44314	-4.428	0.29934	T	.	.	0.110	0.21353	B	.	.	3.134110	0.42357	21.5	0.96728119214849717	0.30876	0.88953	0.49137	D	AEFI	0.128025	0.24563	N	0.0910648324149869	0.46047	2.851184	-0.0804470327818137	0.36199	2.103622	9.58318401898543E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	3.232000	0.51003	-1.675000	0.04938	0.333000	0.19617	0.990000	0.36992	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	10.279	0.42708	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.010101	0.010870	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1812.33	99	chr11	55994258	.	T	A	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=2057;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-2.141;QD=14.73;ReadPosRankSum=-0.955;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800:.	18	0	1	0
chr11	56094047	56094047	T	C	exonic	OR8I2	.	nonsynonymous SNV	OR8I2:NM_001003750:exon1:c.T740C:p.V247A	.	434	1073	14	1	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00231502443141	0.0041	0.00219649	0.0043	0.0007	0.0026	0	0.0009	0.0055	0.0066	0.0065	0.0042561	658	154602	rs151296695	0.0047	0.0047	0.0046	0.0047	0.0097	0.0046	0.0046	0.0077	0.0069	0.0008	0.0031	0.0018	2.519e-05	0.0009	0.0097	0.0051	0.0042	0.0076	0.0033	0.0033	0.0034	0.0031	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0025	0.0017	0.0002	0.0008	0.0068	0.0052	0.0047	0.0050	0.0	0.91255	D	0.007	0.69154	D	0.643	0.40492	P	0.245	0.38823	B	0.002581	0.36316	U	0.000000	1	0.08975	N	2.805	0.81760	M	7.84	0.00333	T	-3.87	0.72594	D	0.434	0.47301	-1.0072	0.27789	T	0.001	0.00348	T	10	0.007757008	0.00176	T	0.002315	0.04452	T	0.106	0.30130	.	.	0.274366138417	0.27033	0.13537815109154866	0.13461	0.0517617221717	0.05696	0.271994501352	0.06403	T	0.007475	0.06883	T	-0.436324	0.01359	T	-0.392987	0.34203	T	0.0818030910219607	0.10217	T	0.553945	0.19167	T	0.5244278	0.68513	0.5248171	0.72546	0.5244278	0.68514	0.5248171	0.72546	-8.431	0.63971	D	.	.	0.202	0.42678	B	.	.	3.226413	0.43984	21.8	0.98384828810045222	0.40894	0.37013	0.25665	N	AEFGI	0.074436	0.14919	N	-0.181636130068989	0.33899	1.929	-0.332902842527322	0.27043	1.497869	2.20811583155592E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	3.16	0.35406	3.717000	0.54640	.	.	0.574000	0.29054	0.938000	0.32564	0.433000	0.24865	0.004000	0.06068	0.0:0.0:0.1633:0.8367	10.495	0.43959	152	0.94023	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.006793	0.026316	0.000000	0.017241	0.018293	0.007576	0.02632	1778.33	45	chr11	56094047	.	T	C	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=1177;ExcessHet=0;FS=6.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.637;SOR=0.36	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	18	0	1	0
chr11	56094190	56094190	G	T	exonic	OR8I2	.	nonsynonymous SNV	OR8I2:NM_001003750:exon1:c.G883T:p.D295Y	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.00727964505645	7.7e-05	.	2.659e-05	0	0	0	0	4.85e-05	0	0	3.84e-05	1	26028	rs376426214	7.57e-06	9.577e-06	2.74e-06	1.245e-05	1.164e-05	4.06e-06	2.97e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.132e-06	1.666e-05	1.164e-05	1.317e-05	1.314e-05	0	2.697e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.005	0.63226	D	0.012	0.63918	D	0.964	0.55854	D	0.525	0.48375	P	0.018284	0.27517	U	0.169164	0.758449	0.34010	D	3.74	0.94936	H	1.03	0.40469	T	-4.84	0.81030	D	0.255	0.28849	-0.1290	0.79425	T	0.242	0.60976	T	10	0.43435633	0.57696	T	0.00728	0.19307	T	0.232	0.53354	.	.	0.650448108403	0.64754	0.2576528736995358	0.25679	0.0343969961849	0.03618	0.232363551855	0.02148	T	0.006111	0.05549	T	-0.0792666	0.39835	T	-0.241579	0.50644	T	0.841056823730469	0.49413	D	0.408059	0.10511	T	0.6335148	0.74485	0.58259046	0.75801	0.6335148	0.74487	0.58259046	0.75802	-10.436	0.76479	D	.	.	0.132	0.28578	B	.	.	3.852501	0.55822	23.7	0.99178570672640953	0.54614	0.97479	0.75014	D	AEFGI	0.635791	0.61518	D	0.56245066513905	0.70845	5.56152	0.43326448451601	0.63650	4.602958	0.284455631454168	0.19022	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	7.476000	0.80054	.	.	0.582000	0.30178	1.000000	0.71638	0.778000	0.26755	0.028000	0.12845	0.0998:0.0:0.9002:0.0	9.676	0.39206	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1176.33	45	chr11	56094190	.	G	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.266;DP=859;ExcessHet=0;FS=5.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.91;MQRankSum=0.624;QD=11.1;ReadPosRankSum=-0.133;SOR=0.35	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr11	56105790	56105790	A	T	exonic	OR8H2	.	nonsynonymous SNV	OR8H2:NM_001005200:exon1:c.A748T:p.I250F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00218784312769	.	0.000599042	2.476e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs113551376	1.095e-05	1.094e-05	1.225e-05	9.627e-06	0.0003	6.48e-06	5.25e-06	0.0001	0.0001	0.0003	2.237e-05	0	0	0	0	0	8.281e-05	1.159e-05	3.939e-05	3.937e-05	2.57e-05	5.37e-05	0.0001	1.714e-05	1.129e-05	6.267e-05	4.289e-05	0.0001	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.74	0.42962	P	0.457	0.46318	P	0.223461	0.16084	N	0.561686	1	0.08975	N	0.955	0.23872	L	8.59	0.00172	T	-3.32	0.66085	D	0.359	0.40063	-0.9468	0.41515	T	0.000	0.00114	T	10	0.04423225	0.03357	T	0.002188	0.04124	T	0.062	0.17934	.	.	0.148003135375	0.14442	0.13796935024926812	0.13720	0.668546190933	0.59301	0.209987193346	0.00811	T	0.004216	0.03621	T	-0.456186	0.01038	T	-0.613621	0.11692	T	0.199145974686596	0.20369	T	0.834017	0.50309	T	0.5004323	0.67120	0.4858045	0.70238	0.5004323	0.67121	0.4858045	0.70238	-5.357	0.40504	T	.	.	0.176	0.44948	B	.;.;.	.;.;.	2.355001	0.30199	18.36	0.95964767979775334	0.28312	0.02425	0.06847	N	AEFI	0.039328	0.05696	N	-0.843607199474546	0.12208	0.5936631	-1.09625243785486	0.07773	0.3794528	0.00133401064335633	0.08454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	-7.11	0.01389	-1.196000	0.03149	.	.	0.516000	0.23499	0.000000	0.06391	0.000000	0.08366	0.721000	0.34804	0.2788:0.3817:0.2442:0.0954	3.130	0.06033	150	0.94078	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2707.33	143	chr11	56105790	.	A	T	2707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=3177;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.891;QD=11.62;ReadPosRankSum=0.073;SOR=0.894	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	18	0	1	0
chr11	56137097	56137097	C	A	exonic	OR8J3	.	nonsynonymous SNV	OR8J3:NM_001004064:exon1:c.G622T:p.V208F	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0041	0.00419329	0.0012	0.0129	0.0003	0	0	7.503e-05	0.0011	6.078e-05	0.0011643	180	154602	rs1384094	0.0005	0.0005	0.0005	0.0005	0.0133	0.0004	0.0004	0.0123	0.0119	0.0133	0.0003	0	0.0001	0.0001	0.0026	9.804e-05	0.0011	0.0002	0.0037	0.0037	0.0038	0.0035	0.0126	0.0034	0.0033	0.0117	0.0113	0.0126	0	0.0007	0	0	0	0.0034	0.0002	0.0028	0.0012	0.242	0.17584	T	0.301	0.20293	T	0.001	0.07471	B	0.006	0.12133	B	0.142469	0.18242	N	0.537129	1	0.08975	N	0.38	0.12130	N	1.22	0.37052	T	-1.59	0.38345	N	0.095	0.07535	-1.0427	0.16503	T	0.013	0.05225	T	10	0.0044235587	0.00090	T	.	.	.	0.015	0.02232	.	.	0.0551355673512	0.04727	0.2682534028983566	0.26738	0.00925169347496	0.00840	0.213921129704	0.00989	T	0.005043	0.04473	T	-0.70746	0.00033	T	-0.777317	0.02535	T	0.00878362377458252	0.00108	T	0.0984901	0.00732	T	0.07205621	0.15999	0.06526403	0.13202	0.07205621	0.15999	0.06526403	0.13201	-4.134	0.25789	T	.	.	0.083	0.09530	B	.;.;.	.;.;.	-1.515205	0.00286	0.005	0.79838437344825552	0.12924	0.01602	0.05196	N	AEFI	0.057519	0.10720	N	-1.76125981855104	0.00647	0.02791591	-1.82685521292029	0.00677	0.03011425	0.00105080133110562	0.08159	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.27	-6.55	0.01686	-7.588000	0.00043	.	.	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2336:0.2404:0.3556:0.1704	1.678	0.02655	158	0.93861	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2668.33	40	chr11	56137097	.	C	A	2668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1471;ExcessHet=0;FS=4.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.016;SOR=0.921	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr11	56159737	56159737	T	G	exonic	OR8K5	.	nonsynonymous SNV	OR8K5:NM_001004058:exon1:c.A581C:p.E194A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00352387521913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335288552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.558	0.09175	T	0.751	0.43285	P	0.446	0.45959	B	0.011625	0.29459	N	0.244558	1	0.08975	N	-0.16	0.04340	N	7.77	0.00338	T	-5.09	0.82961	D	0.136	0.13341	-0.8950	0.48483	T	0.001	0.00188	T	10	0.13892508	0.26417	T	0.003524	0.08000	T	0.044	0.11924	0.267	0.21418	0.364730456448	0.36084	0.18004589224776965	0.17923	0.0164091480583	0.01580	0.290584146976	0.09008	T	0.009713	0.08828	T	-0.239021	0.15473	T	-0.581114	0.14445	T	0.293526584957257	0.24737	T	0.105889	0.00791	T	0.283052	0.51339	0.1712786	0.39298	0.283052	0.51339	0.1712786	0.39298	-4.553	0.31576	T	.	.	0.129	0.27583	B	.	.	2.574577	0.33367	19.32	0.969593833023215	0.31771	0.05759	0.11689	N	AEFI	0.049500	0.08558	N	-0.629492549425505	0.18062	0.93473	-0.707290853931788	0.16779	0.8892278	1.09544990210865E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	0.053	0.13617	-0.263000	0.08695	.	.	0.571000	0.28931	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4972:0.1087:0.0:0.3941	3.562	0.07439	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	35	chr11	56159737	.	T	G	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.525;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1137	18	0	1	0
chr11	56159791	56159791	T	C	exonic	OR8K5	.	nonsynonymous SNV	OR8K5:NM_001004058:exon1:c.A527G:p.H176R	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00300933583486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	0.148	0.27908	B	0.094	0.30180	B	0.000017	0.62929	D	0.000000	0.952439	0.26438	N	3.66	0.94269	H	8.62	0.00160	T	-7.17	0.94145	D	0.458	0.49511	-1.0821	0.06946	T	0.001	0.00467	T	10	0.32851315	0.50119	T	0.003009	0.06457	T	0.169	0.43123	0.503	0.59615	0.469496741337	0.46578	0.10446387255866069	0.10376	0.00536930709463	0.00472	0.224165096879	0.01565	T	0.015022	0.12680	T	-0.123242	0.32593	T	-0.414805	0.31673	T	0.948579370975494	0.62925	D	0.79802	0.44234	T	0.85858506	0.87978	0.68452704	0.81452	0.85858506	0.87979	0.68452704	0.81453	-8.754	0.66099	D	.	.	0.143	0.31431	B	.	.	2.232764	0.28505	17.82	0.98099474266440922	0.38254	0.78463	0.38714	D	AEFI	0.391936	0.47018	N	0.223356366482915	0.52332	3.408	0.238740222588287	0.52011	3.379024	0.00171317102865735	0.08808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	3.468000	0.52850	.	.	0.571000	0.28931	0.267000	0.25017	0.985000	0.30750	0.023000	0.12082	0.0:0.0:0.0:1.0	12.885	0.57429	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1738.33	35	chr11	56159791	.	T	C	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.172;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.578;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1137	18	0	1	0
chr11	56275658	56275658	A	G	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.A20G:p.D7G	.	.	.	.	.	.	.	.	.	.	.	4001802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00336166923547	.	0.000599042	7.093e-05	0.0006	0	0	0	0	0	0.0002	9.06e-05	14	154602	rs112452716	2.512e-05	2.736e-05	2.355e-05	2.67e-05	0.0005	1.839e-05	1.632e-05	0.0003	0.0002	0.0005	2.561e-05	0	0	1.905e-05	0	0	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.000025	0.00348	N	11.022400	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-1.0636	0.10878	T	0.034	0.14552	T	10	0.014890552	0.00313	T	0.003362	0.07512	T	.	.	.	.	.	.	0.2663401379962313	0.26547	.	.	0.379129290581	0.22134	T	0.011537	0.10280	T	-0.628906	0.00097	T	-0.782575	0.02376	T	0.0107962271428904	0.00153	T	.	.	.	0.037598684	0.04850	0.05439186	0.09347	0.037598684	0.04849	0.05439186	0.09347	-2.935	0.09497	T	.	.	0.088	0.11654	B	.;.	.;.	0.473785	0.08434	5.190	0.10998575475135751	0.00154	0.00236	0.01316	N	AEFI	0.020517	0.00818	N	-1.62442004946281	0.01148	0.04985947	-1.72903984974598	0.01015	0.04549886	1.26857012954557E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	-5.78	0.02169	-1.751000	0.01920	.	.	-0.995000	0.01833	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3275:0.4185:0.254:0.0	5.639	0.16829	190	0.92594	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1123.33	33	chr11	56275658	.	A	G	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=712;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.443;SOR=0.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1276	18	0	1	0
chr11	56276253	56276253	C	A	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.C615A:p.H205Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00161913624684	.	0.000599042	2.471e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs112370265	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	8.993e-07	8.279e-05	1.159e-05	3.941e-05	3.937e-05	2.57e-05	5.373e-05	0.0001	1.715e-05	1.129e-05	6.269e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.358	0.33818	B	0.287	0.40572	B	0.002044	0.37364	N	0.118188	1	0.08975	N	-0.525	0.02545	N	.	.	.	.	.	.	.	.	-0.9431	0.42121	T	0.000	0.00075	T	10	0.020596504	0.00477	T	0.001619	0.02625	T	.	.	0.194	0.10571	.	.	0.06162908363157492	0.06102	.	.	0.240920811892	0.02873	T	0.115537	0.43420	T	-0.599157	0.00147	T	-0.818989	0.01473	T	0.162088751792908	0.18024	T	.	.	.	0.19358	0.41073	0.1765563	0.40198	0.19358	0.41073	0.1765563	0.40197	-4.89	0.35622	T	.	.	0.134	0.29311	B	.;.	.;.	1.086578	0.14700	11.25	0.67869322184000525	0.08484	0.01010	0.03813	N	AEFI	0.029468	0.02785	N	-1.25405470401565	0.04246	0.1912774	-1.42876134273051	0.02968	0.1375589	0.00232688259561571	0.09325	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.35	-6.3	0.01832	-5.572000	0.00134	.	.	0.506000	0.23061	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.4382:0.2757:0.0:0.2861	4.349	0.10585	190	0.92594	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5439.33	46	chr11	56276253	.	C	A	5439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.57;DP=1254;ExcessHet=0;FS=3.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=2.27;QD=14.02;ReadPosRankSum=0.266;SOR=0.641	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr11	56290519	56290519	G	A	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.C544T:p.P182S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0030161700066	0.0002	0.000599042	5.767e-05	0.0007	0	0	0	0	0	0	7.76e-05	12	154602	rs113911443	2.052e-05	2.052e-05	2.45e-05	1.65e-05	0.0006	1.456e-05	1.264e-05	0.0004	0.0003	0.0006	2.236e-05	0	0	0	0	8.993e-07	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.573e-05	6.278e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.016	0.60972	D	0.988	0.62325	D	0.86	0.61233	P	0.002274	0.36887	N	0.125962	1	0.08975	N	1.695	0.43389	L	8.56	0.00185	T	-6.68	0.92391	D	0.118	0.10769	-0.9263	0.44673	T	0.001	0.00318	T	10	0.048878253	0.04399	T	0.003016	0.06457	T	0.092	0.26621	.	.	0.375861065471	0.37200	0.10934694366900514	0.10863	0.141766843651	0.15974	0.171019047499	0.00036	T	0.014584	0.12389	T	-0.515447	0.00467	T	-0.605916	0.12319	T	0.252123767802397	0.22967	T	0.840116	0.51562	T	0.524061	0.68492	0.5364493	0.73213	0.524061	0.68493	0.5364493	0.73214	-7.124	0.54933	T	.	.	0.235	0.47912	B	.;.;.	.;.;.	2.492799	0.32161	18.96	0.99773305587269667	0.86088	0.08011	0.13990	N	AEFI	0.039900	0.05858	N	-0.177507415099262	0.34073	1.940459	-0.414907454577084	0.24559	1.345549	1.38983405297374E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	2.87	0.32523	-0.291000	0.08379	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.490000	0.28791	0.0:0.0:0.8379:0.1621	13.056	0.58390	187	0.92701	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2257.33	107	chr11	56290519	.	G	A	2257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=1796;ExcessHet=0;FS=3.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.4;SOR=0.754	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:196,23:247:99:0|1:56375950_A_G:753,271,8471:56375950	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:197,22:247:99:0|1:56375950_A_G:785,302,8502:56375950	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:197,22:247:99:0|1:56375950_A_G:859,299,8451:56375950	2	0	16	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	476.1	34	chr11	56412815	.	A	G	476.1	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.211;DP=2251;ExcessHet=0.7564;FS=90.684;InbreedingCoeff=-0.1374;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.61;SOR=10.773	GT:AD:DP:GQ:PL	0/0:101,19:120:34:0,34,2532	14	0	4	1
chr11	56413175	56413175	T	C	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3370.33	246	chr11	56413175	.	T	C	3370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=3762;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=2.71;SOR=0.53	GT:AD:DP:GQ:PL	0/0:183,0:183:99:0,120,1800	18	0	1	0
chr11	56470428	56470428	G	A	exonic	OR5M3	.	nonsynonymous SNV	OR5M3:NM_001004742:exon1:c.C70T:p.L24F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0118011635204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868139264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.759	0.04652	T	0.006	0.13644	B	0.019	0.18783	B	0.041067	0.23989	N	0.207538	1	0.08975	N	0.41	0.12415	N	6.05	0.00594	T	-1.67	0.39887	N	0.028	0.00618	-0.9154	0.46168	T	0.002	0.00646	T	10	0.08831209	0.15195	T	0.011801	0.29782	T	0.024	0.04979	0.291	0.25241	0.0401082797425	0.02173	0.3697946212708004	0.36893	0.0585039543478	0.06489	0.234922707081	0.02352	T	0.014428	0.12283	T	-0.359469	0.04159	T	-0.754129	0.03327	T	0.0992590303133529	0.12276	T	0.0547945	0.00535	T	0.087944575	0.20498	0.08438664	0.19409	0.087944575	0.20498	0.08438664	0.19409	-5.113	0.38044	T	.	.	0.111	0.30660	B	.;.;.;.	.;.;.;.	0.306283	0.06816	3.341	0.95697264956466888	0.27585	0.02522	0.07026	N	AEFI	0.050993	0.08966	N	-1.07631083131315	0.07082	0.3279417	-1.14680333401713	0.06825	0.3298722	1.54720348038492E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	-3.38	0.04577	-1.952000	0.01618	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.265000	0.23644	0.0683:0.5731:0.2614:0.0972	10.216	0.42347	247	0.90334	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	184.21	38	chr11	56470428	.	G	A	184.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.587;DP=1761;ExcessHet=0;FS=140.283;InbreedingCoeff=-0.0615;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.99;SOR=7.923	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	16	0	1	2
chr11	56490694	56490694	T	A	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.A677T:p.K226M	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0048	0.00479233	0.0014	0.0158	0.0007	0	0	3.012e-05	0	6.056e-05	0.0014036	217	154602	rs112896959	0.0004	0.0004	0.0005	0.0004	0.0161	0.0004	0.0004	0.0150	0.0145	0.0161	0.0008	0	2.519e-05	0	0.0007	7.194e-06	0.0009	0.0001	0.0044	0.0044	0.0043	0.0044	0.0153	0.0041	0.0040	0.0143	0.0139	0.0153	0	0.0016	0	0	0	0	2.94e-05	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.949	0.53761	P	0.704	0.54300	P	0.266004	0.15220	N	0.531595	1	0.08975	N	2.555	0.74557	M	8.56	0.00185	T	-3.24	0.65171	D	0.216	0.24135	-0.9080	0.47097	T	0.001	0.00222	T	10	0.0047613382	0.00101	T	.	.	.	0.032	0.07718	.	.	0.356690202451	0.35275	0.2433908880865762	0.24253	0.0121285372821	0.01151	0.216411963105	0.01113	T	0.025605	0.19114	T	-0.62294	0.00105	T	-0.653961	0.08679	T	0.0826605157976357	0.10325	T	0.268373	0.04464	T	0.24905697	0.47898	0.13016315	0.31281	0.24905697	0.47897	0.13016315	0.31281	-9.103	0.68356	D	.	.	0.159	0.35204	B	.	.	1.793166	0.22793	15.76	0.98046760286067791	0.37835	0.06273	0.12265	N	AEFI	0.104800	0.20959	N	-0.571610096002946	0.19811	1.039784	-0.805821559548793	0.14355	0.7496009	1.65085303152409E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	0.112	0.13929	-2.522000	0.01026	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5239:0.0:0.4761	7.974	0.29304	259	0.89842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1619.33	33	chr11	56490694	.	T	A	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.974;DP=735;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.837;SOR=1.001	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	18	0	1	0
chr11	56491127	56491127	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G244A:p.E82K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00565400787547	.	.	4.12e-05	0	0	0	0	7.496e-05	0	0	3.88e-05	6	154602	rs373976847	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0016	1.456e-05	1.264e-05	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	1.259e-05	9.934e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.287	0.15149	T	0.102	0.38450	T	0.632	0.40232	P	0.493	0.47443	P	0.037892	0.24348	U	0.198759	1	0.08975	N	0.105	0.08473	N	4.48	0.02067	T	-0.76	0.21215	N	0.147	0.14905	-0.9595	0.39274	T	0.008	0.02926	T	10	0.090789914	0.15847	T	0.005654	0.14621	T	0.046	0.12618	0.418	0.45873	0.249502417897	0.24576	0.2074898976379729	0.20664	0.00481825930377	0.00428	0.275559782982	0.06881	T	0.00803	0.07391	T	-0.385686	0.02867	T	-0.68413	0.06735	T	0.154437512159348	0.17451	T	0.294771	0.05441	T	0.04505029	0.07309	0.041462008	0.04718	0.04505029	0.07308	0.041462008	0.04718	-6.218	0.48069	T	.	.	0.141	0.30817	B	.	.	2.154835	0.27447	17.47	0.98506753245866574	0.42288	0.01087	0.04005	N	AEFI	0.041827	0.06411	N	-0.829252431290038	0.12567	0.6133446	-0.986755581635183	0.10082	0.505573	1.72560864700317E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	-0.152	0.12751	-2.031000	0.01515	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3872:0.1916:0.4212	3.945	0.08841	259	0.89842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	33	chr11	56491127	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=748;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.566;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	18	0	1	0
chr11	56542897	56542897	G	A	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.C361T:p.R121C	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	.	0.0044	0.00499201	0.0014	0.0152	0.0013	0.0001	0	3.001e-05	0	0.0001	0.0014101	218	154602	rs116068549	0.0005	0.0005	0.0006	0.0004	0.0158	0.0005	0.0004	0.0147	0.0142	0.0158	0.0014	0	5.039e-05	0	0.0005	3.777e-05	0.0009	0.0002	0.0043	0.0043	0.0043	0.0044	0.0148	0.0040	0.0039	0.0138	0.0135	0.0148	0	0.0022	0	0	0	0	2.94e-05	0.0024	0.0002	0.006	0.61437	D	0.016	0.60972	D	0.72	0.42342	P	0.117	0.32014	B	.	.	.	.	0.98855	0.40785	D	2.62	0.76659	M	-1.09	0.77206	T	-7.21	0.94249	D	0.319	0.35938	-0.4572	0.70161	T	0.278	0.64997	T	9	0.0097364485	0.00219	T	.	.	.	0.268	0.58254	.	.	0.821544516766	0.81986	0.5549406161320563	0.55421	0.0303404334318	0.03129	0.236268147826	0.02464	T	0.108376	0.42136	T	-0.432045	0.01441	T	-0.379753	0.35751	T	0.0760336565287063	0.09472	T	0.89721	0.64041	D	0.31971076	0.54616	0.2817648	0.54160	0.31971076	0.54616	0.2817648	0.54159	-8.002	0.61084	D	.	.	0.127	0.26947	B	.	.	3.649505	0.51790	23.1	0.98579652641999793	0.43219	0.85766	0.44935	D	AEFI	0.271513	0.38734	N	-0.019722909099759	0.40964	2.441864	-0.0308941371439077	0.38327	2.256494	3.73650098846346E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	2.18	0.26813	2.106000	0.41459	.	.	-0.285000	0.06363	1.000000	0.71638	0.000000	0.08366	0.004000	0.06068	0.2382:0.0:0.6182:0.1436	5.162	0.14394	294	0.88270	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2960.33	34	chr11	56542897	.	G	A	2960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1541;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.398;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	18	0	1	0
chr11	56542906	56542906	C	T	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.G352A:p.A118T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0108283742995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.967	0.56408	D	0.721	0.54900	P	.	.	.	.	0.826721	0.34856	D	3.515	0.92918	H	0.59	0.53943	T	-3.61	0.69477	D	0.51	0.54147	0.175	0.85484	D	0.385	0.74039	T	9	0.6584794	0.70013	D	0.010828	0.27810	T	0.280	0.59740	0.52	0.62217	0.814459675803	0.81271	0.1555907797195518	0.15480	0.115934735374	0.13078	0.351882100105	0.18198	T	0.009136	0.08339	T	0.0182086	0.54140	T	-0.211621	0.53540	T	0.987128376960754	0.77683	D	0.740726	0.35986	T	0.73345643	0.79919	0.7262741	0.83831	0.73345643	0.79921	0.7262741	0.83832	-9.298	0.69595	D	.	.	0.218	0.44784	B	.	.	4.117317	0.61514	24.3	0.99903937489450712	0.97502	0.92226	0.55227	D	AEFI	0.172576	0.29962	N	0.742111105244674	0.82390	7.750753	0.658315209290863	0.79229	7.038936	3.70771207495796E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	1.898000	0.39440	.	.	0.472000	0.21952	1.000000	0.71638	0.998000	0.33993	0.025000	0.12405	0.2787:0.7213:0.0:0.0	11.105	0.47418	294	0.88270	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2912.33	235	chr11	56542906	.	C	T	2912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=1587;ExcessHet=0;FS=1.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.109;SOR=0.593	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	57182117	57182117	C	T	exonic	LRRC55	.	nonsynonymous SNV	LRRC55:NM_001005210:exon1:c.C95T:p.S32L	.	419	1102	1	0	0	1	0.000453515	.	.	.	3984762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0239362858006	.	.	3.301e-05	9.634e-05	0	0	0	1.501e-05	0	0.0001	2.59e-05	4	154602	rs745630397	3.078e-05	3.078e-05	1.634e-05	4.538e-05	0.0001	2.347e-05	2.095e-05	7.998e-05	6.236e-05	5.974e-05	0	0	0	1.873e-05	0	2.608e-05	1.656e-05	0.0001	2.628e-05	2.626e-05	1.284e-05	4.035e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	2.412e-05	0	0	0	0	0	0	0	0	0.0006	0.113	0.28772	T	0.189	0.28575	T	.	.	.	.	.	.	0.155641	0.17824	N	0.514986	1	0.08975	N	.	.	.	0.07	0.61677	T	-0.3	0.11913	N	0.391	0.43223	-1.0348	0.18920	T	0.094	0.35551	T	10	0.07504377	0.11547	T	0.023936	0.46920	T	0.044	0.11924	.	.	0.184605227958	0.18053	.	.	0.0870122964197	0.09816	0.393913120031	0.24220	T	.	.	.	-0.314813	0.07331	T	-0.487329	0.23670	T	0.113787174224854	0.13812	T	0.711029	0.32195	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.777759	0.22607	15.69	0.98867342790966029	0.47580	0.12130	0.17078	N	AEFDBI	0.084133	0.17050	N	-0.497281639358382	0.22169	1.181894	-0.432429895194561	0.24051	1.314944	0.300231700950773	0.19181	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.8	4.89	0.63387	3.360000	0.52020	3.293000	0.37321	0.599000	0.40250	0.167000	0.23894	0.095000	0.22593	0.779000	0.36868	0.0:0.9191:0.0:0.0809	11.958	0.52281	503	0.75780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	39	chr11	57182117	.	C	T	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.64;DP=789;ExcessHet=0;FS=2.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.377;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	0	1	0
chr11	57309310	57309310	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G3401A:p.G1134D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0493578206327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014811700	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.049	0.48336	D	0.944	0.53183	P	0.646	0.52296	P	0.016520	0.27959	N	0.249736	1	0.08975	N	2.56	0.74772	M	1.08	0.39401	T	-1.05	0.27463	N	0.259	0.29313	-0.9787	0.35299	T	0.129	0.43867	T	10	0.14856064	0.28130	T	0.049358	0.63776	D	0.137	0.36984	0.448	0.50793	0.593829253334	0.59061	0.3452728707068146	0.34441	0.440892115314	0.44086	0.292768567801	0.09326	T	0.015105	0.12732	T	-0.265412	0.12274	T	-0.437495	0.29089	T	0.40715429186821	0.29211	T	0.717128	0.32987	T	0.06616845	0.14211	0.07634612	0.16900	0.06616845	0.14210	0.07634612	0.16900	-3.252	0.13126	T	.	.	0.130	0.27968	B	.;.	.;.	2.809172	0.36980	20.4	0.98970574020710633	0.49520	0.14200	0.18276	N	AEFDBCI	0.065393	0.12753	N	-0.132323126491467	0.35990	2.074361	-0.270271001560419	0.29083	1.626583	0.999988103134603	0.51787	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	3.97	0.45241	0.850000	0.27389	1.107000	0.24123	0.599000	0.40250	0.002000	0.15269	0.001000	0.17328	0.949000	0.49496	0.1657:0.5824:0.1607:0.0912	3.836	0.08406	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2312.33	33	chr11	57309310	.	C	T	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=1002;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.094;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	18	0	1	0
chr11	57309449	57309449	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G3262A:p.G1088S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	0.0189572896583	.	0.000199681	2.473e-05	9.621e-05	8.642e-05	0	0	1.5e-05	0	0	5.82e-05	9	154602	rs201237928	3.557e-05	3.557e-05	3.539e-05	3.575e-05	0.0003	2.762e-05	2.501e-05	0.0002	0.0001	0	0.0003	0	5.038e-05	0	0	3.147e-05	1.656e-05	1.159e-05	3.282e-05	3.28e-05	3.855e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.172	0.22660	T	0.931	0.02768	T	0.086	0.24919	B	0.016	0.17743	B	0.073143	0.21364	N	0.395914	1	0.08975	N	1.115	0.28702	L	1.6	0.28604	T	0.08	0.06026	N	0.102	0.08506	-1.0459	0.15563	T	0.042	0.17910	T	10	0.028406888	0.00973	T	0.018957	0.41188	T	0.000	0.00003	.	.	0.241664281697	0.23763	0.20434769184930754	0.20351	0.084899558315	0.09594	0.337029099464	0.15993	T	0.003075	0.02473	T	-0.402233	0.02239	T	-0.634029	0.10110	T	0.0315518429771365	0.02234	T	0.568143	0.20156	T	0.10436165	0.24670	0.052137297	0.08532	0.10436165	0.24670	0.052137297	0.08532	-2.421	0.05263	T	.	.	0.080	0.09239	B	.;.	.;.	0.863716	0.12360	8.900	0.51446254224244126	0.04564	0.05825	0.11765	N	AEFDBCI	0.044853	0.07267	N	-0.992640711399623	0.08760	0.4119849	-1.01943639772961	0.09357	0.4651115	0.999913329142788	0.45857	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.05	0.505	0.16157	-0.303000	0.08249	0.187000	0.15699	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.4266:0.0:0.5734	8.250	0.30872	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2126.33	33	chr11	57309449	.	C	T	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.4;DP=1021;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.104;SOR=0.59	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	18	0	1	0
chr11	57310138	57310138	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G2573A:p.R858Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2216859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0177472239819	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383679237	3.489e-05	3.489e-05	3.267e-05	3.713e-05	6.956e-05	2.697e-05	2.438e-05	2.995e-05	2.468e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.687e-05	1.656e-05	6.956e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	4.825e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.051	0.39334	T	0.379	0.16037	T	0.759	0.43487	P	0.289	0.40655	B	0.250912	0.03646	N	1.637620	1	0.08975	N	1.1	0.28011	L	1.61	0.28391	T	-0.56	0.17003	N	0.091	0.06990	-1.0044	0.28636	T	0.056	0.23715	T	10	0.07715979	0.12144	T	0.017747	0.39570	T	0.035	0.08770	0.208	0.12497	0.312306559268	0.30836	0.016877476875472364	0.01642	0.0889039515777	0.10054	0.231372207403	0.02071	T	0.005688	0.05139	T	-0.437228	0.01343	T	-0.684297	0.06725	T	0.153045803308487	0.17344	T	0.752925	0.37950	T	0.07156491	0.15854	0.053727888	0.09108	0.07156491	0.15854	0.053727888	0.09107	-3.454	0.15794	T	.	.	0.087	0.14015	B	.;.;.	.;.;.	1.269794	0.16684	12.70	0.99318308368939501	0.59279	0.06425	0.12430	N	AEFDBCI	0.040283	0.05971	N	-0.67138955684681	0.16840	0.8615124	-0.781331884747042	0.14953	0.7840027	0.999963815724517	0.48965	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.47	-2.59	0.05847	-0.766000	0.04831	-0.600000	0.08275	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.1146:0.4811:0.0:0.4043	6.854	0.23214	440	0.80101	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3329.33	33	chr11	57310138	.	C	T	3329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=950;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.07;SOR=0.878	GT:AD:DP:GQ:PL	0/1:120,134:254:99:3343,0,2852	18	0	1	0
chr11	57312547	57312547	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon5:c.G2141A:p.S714N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0154362127319	0.0052	0.00159744	0.0049	0.0013	0.0011	0	0.0092	0.0070	0.0038	0.0007	0.0046054	712	154602	rs34203865	0.0061	0.0059	0.0062	0.0061	0.0069	0.0060	0.0060	0.0068	0.0067	0.0008	0.0012	0.0075	0	0.0086	0.0004	0.0069	0.0056	0.0008	0.0045	0.0045	0.0045	0.0044	0.0074	0.0042	0.0041	0.0068	0.0066	0.0015	0	0.0013	0.0063	0	0.0056	0	0.0074	0.0052	0.0006	0.068	0.35726	T	0.03	0.54159	D	0.827	0.45966	P	0.501	0.47677	P	0.840662	0.09036	N	0.908370	0.999999	0.08975	N	1.905	0.50856	L	1.4	0.33630	T	-0.56	0.17003	N	0.162	0.17002	-1.0580	0.12260	T	0.062	0.25923	T	10	0.004918486	0.00105	T	0.015436	0.36172	T	0.065	0.18881	.	.	0.419461527279	0.41563	0.15495293294528026	0.15416	0.227693720745	0.25324	0.487646669149	0.37112	T	0.00804	0.07400	T	-0.613244	0.00121	T	-0.64712	0.09157	T	0.0131064919793828	0.00230	T	0.562444	0.19755	T	0.06383329	0.13482	0.07313556	0.15859	0.06383329	0.13481	0.07313556	0.15858	-6.391	0.49440	T	.	.	0.116	0.23325	B	.;.	.;.	1.705409	0.21718	15.32	0.96198639903071426	0.29016	0.32682	0.24645	N	AEFDBHCI	0.079641	0.16089	N	-0.394464436777558	0.25664	1.394926	-0.505450368065768	0.22005	1.193105	0.999999999371283	0.74766	0.719381	0.83141	0	0.379588	0.06130	0	0.696144	0.63334	0	0.733575	0.97253	0	.	.	3.52	3.52	0.39415	0.598000	0.23774	0.612000	0.20040	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.0:1.0:0.0:0.0	12.083	0.52981	438	0.80235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	2530.81	33	chr11	57312547	.	C	T	2530.81	.	AC=2;AF=0.053;AN=38;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.04;SOR=0.77	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	1	0	0
chr11	57378743	57378743	G	A	exonic	PRG3	.	stopgain	PRG3:NM_006093:exon4:c.C445T:p.Q149X	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334361	0.04150	N	1.447220	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359058	0.87180	D	0.277985	0.87014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.792925	0.93577	33	0.98716453762878331	0.45127	0.03783	0.09104	N	AEFDBCI	0.034326	0.04233	N	0.0509460996898405	0.44186	2.697285	-0.268106081986039	0.29156	1.631223	0.104853178999835	0.16487	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.27	3.32	0.37134	0.016000	0.13272	-3.862000	0.02488	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0925:0.0:0.7295:0.178	6.573	0.21747	329	0.86514	C-type lectin-like|C-type lectin-like|C-type lectin-like|Eosinophil major basic protein, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1857.33	35	chr11	57378743	.	G	A	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.882;DP=776;ExcessHet=0;FS=0.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.95;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	57417846	57417846	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C573G:p.I191M,SLC43A3:NM_001278206:exon8:c.C612G:p.I204M,SLC43A3:NM_014096:exon8:c.C573G:p.I191M,SLC43A3:NM_017611:exon8:c.C573G:p.I191M,SLC43A3:NM_199329:exon8:c.C573G:p.I191M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.017936451789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.31987	T	0.061	0.45530	T	0.743	0.43037	P	0.615	0.51231	P	0.007541	0.31343	N	0.342036	0.990502	0.41173	D	1.43	0.35840	L	0.28	0.60236	T	-0.63	0.18459	N	0.342	0.39052	-0.7638	0.57198	T	0.208	0.56690	T	10	0.29765952	0.47326	T	0.017936	0.39831	T	0.107	0.30369	0.557	0.67547	0.542808479177	0.53935	0.3427932582413513	0.34192	0.182812000047	0.20551	0.410204380751	0.26484	T	0.158831	0.50201	T	-0.0615599	0.42662	T	-0.326203	0.41889	T	0.777227938175201	0.44878	D	0.89751	0.66396	D	0.0907086	0.21233	0.06480782	0.13043	0.0907086	0.21232	0.06480782	0.13043	-7.819	0.59830	D	.	.	0.101	0.21987	B	.;.;.;.;.;.	.;.;.;.;.;.	3.656097	0.51914	23.2	0.99687575091016067	0.79708	0.87639	0.47245	D	AEFDBCI	0.703908	0.65980	D	0.223982561399653	0.52365	3.410965	0.267334496788308	0.53642	3.532128	0.999999995541014	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	1.842000	0.38891	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0795:0.0:0.9205:0.0	12.314	0.54264	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.33	34	chr11	57417846	.	G	C	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.033;DP=728;ExcessHet=0;FS=43.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.237;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1294:.	18	0	1	0
chr11	57417853	57417853	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C566G:p.S189C,SLC43A3:NM_001278206:exon8:c.C605G:p.S202C,SLC43A3:NM_014096:exon8:c.C566G:p.S189C,SLC43A3:NM_017611:exon8:c.C566G:p.S189C,SLC43A3:NM_199329:exon8:c.C566G:p.S189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0183594795113	.	.	8.277e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs761003780	4.173e-05	4.173e-05	5.445e-05	2.888e-05	5.396e-05	3.31e-05	3.001e-05	4.265e-05	3.837e-05	2.987e-05	0	0	0	0	0	5.396e-05	0	0	2.628e-05	2.627e-05	2.569e-05	2.691e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.939e-05	0	0	0.143	0.28026	T	0.135	0.34124	T	0.03	0.20002	B	0.082	0.29098	B	0.000047	0.53742	D	0.129509	0.736308	0.33773	D	1.955	0.52871	M	0.31	0.59314	T	-1.35	0.37375	N	0.459	0.51226	-0.7439	0.58252	T	0.149	0.47575	T	10	0.28009826	0.45584	T	0.018359	0.40397	T	0.145	0.38592	0.62	0.75461	0.503498835695	0.49987	0.5470677570424863	0.54632	0.136672548777	0.15416	0.40134704113	0.25256	T	0.183703	0.53612	T	-0.0531759	0.43963	T	-0.250514	0.49767	T	0.348510593175888	0.26960	T	0.827917	0.49719	T	0.082389064	0.18979	0.06929415	0.14581	0.082389064	0.18978	0.06929415	0.14581	-8.574	0.67297	D	.	.	0.102	0.24867	B	.;.;.;.;.;.	.;.;.;.;.;.	3.469446	0.48398	22.6	0.98106778670925487	0.38318	0.90741	0.52173	D	AEFDBCI	0.824401	0.74431	D	0.0570425281259547	0.44466	2.720214	0.219054970844248	0.50903	3.277797	0.999999459295993	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	3.798000	0.55226	7.938000	0.75364	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.132:0.0:0.868:0.0	8.884	0.34553	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.33	34	chr11	57417853	.	G	C	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.846;DP=879;ExcessHet=0;FS=43.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-0.337;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1294:.	18	0	1	0
chr11	57417856	57417856	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C563G:p.A188G,SLC43A3:NM_001278206:exon8:c.C602G:p.A201G,SLC43A3:NM_014096:exon8:c.C563G:p.A188G,SLC43A3:NM_017611:exon8:c.C563G:p.A188G,SLC43A3:NM_199329:exon8:c.C563G:p.A188G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0162654474331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.241e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13789	T	0.369	0.16522	T	0.001	0.07471	B	0.008	0.13708	B	0.046698	0.23415	N	0.475348	1	0.08975	N	1.995	0.54099	M	0.29	0.59314	T	-1.5	0.36586	N	0.292	0.37717	-1.0331	0.19459	T	0.112	0.40029	T	10	0.12813783	0.24374	T	0.016265	0.37444	T	0.050	0.13987	0.498	0.58835	0.32082282376	0.31691	0.34509865334981926	0.34423	0.110328841212	0.12446	0.301296502352	0.10594	T	0.210943	0.57157	T	-0.0747502	0.40564	T	-0.34515	0.39759	T	0.213555663824081	0.21137	T	0.832417	0.50060	T	0.049327	0.08740	0.061226767	0.11790	0.049327	0.08740	0.061226767	0.11789	-7.581	0.58430	D	.	.	0.091	0.14660	B	.;.;.;.;.;.	.;.;.;.;.;.	2.877446	0.38066	20.6	0.96293867045770554	0.29325	0.72240	0.35366	D	AEFDBCI	0.523696	0.54719	D	-0.534209192028582	0.20981	1.110122	-0.430456348655306	0.24107	1.318354	0.999740854036604	0.42466	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	0.821	0.17938	2.038000	0.40805	2.834000	0.35039	0.676000	0.76740	0.906000	0.31575	0.999000	0.35428	0.990000	0.65344	0.081:0.0:0.5268:0.3922	7.930	0.29059	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	34	chr11	57417856	.	G	C	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=865;ExcessHet=0;FS=51.233;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=-0.891;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1294:.	18	0	1	0
chr11	57476823	57476823	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon3:c.C1175T:p.A392V	.	396	1108	17	1	0	19	0.00850112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0031	0.00479233	0.0086	0.0014	0.0142	0	0.0255	0.0072	0.02	0.0127	0.0002305	6	26028	rs141304388	0.0063	0.0064	0.0060	0.0065	0.0114	0.0061	0.0061	0.0107	0.0105	0.0007	0.0114	0.0026	0	0.0231	0.0058	0.0054	0.0071	0.0113	0.0066	0.0066	0.0054	0.0078	0.0104	0.0063	0.0061	0.0091	0.0086	0.0013	0.0329	0.0104	0.0037	0.0006	0.0274	0.0068	0.0058	0.0038	0.0097	0.011	0.55530	D	0.328	0.18675	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.25	0.59449	T	-1.28	0.32185	N	0.125	0.11769	-1.0431	0.16383	T	0.071	0.29034	T	9	0.0023450553	0.00035	T	.	.	.	0.014	0.01968	.	.	0.416446257289	0.41261	0.26049700544724286	0.25963	1.06338473455	0.76549	0.735802829266	0.72355	T	0.098477	0.40233	T	-0.495055	0.00609	T	-0.472858	0.25209	T	0.0094299413240383	0.00121	T	0.580242	0.20999	T	0.150981	0.34345	0.21442443	0.45992	0.150981	0.34345	0.21442443	0.45991	-4.629	0.32534	T	.	.	0.066	0.02065	B	.	.	1.751098	0.22276	15.55	0.97470050534828734	0.34131	0.01686	0.05377	N	ALL	0.040239	0.05956	N	-0.862290915450808	0.11748	0.5687231	-0.821535014336905	0.13974	0.7277858	0.999999998838283	0.74766	0.766844	0.99359	0	0.218748	0.04544	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	2.73	1.8	0.24069	0.032000	0.13620	0.301000	0.16978	0.446000	0.21189	0.000000	0.06391	0.917000	0.28245	0.911000	0.44643	0.0:0.8737:0.0:0.1263	8.397	0.31727	71	0.96981	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.001359	0.002924	0.000000	0.008621	0.021341	0.007576	0.05263	2488.83	37	chr11	57476823	.	C	T	2488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.601;DP=872;ExcessHet=0.119;FS=2.573;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.652;SOR=0.515	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	17	0	2	0
chr11	57491258	57491258	C	T	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon11:c.G1159A:p.A387T,SLC43A1:NM_003627:exon11:c.G1159A:p.A387T	.	429	1084	9	0	0	9	0.00413413	.	.	.	712883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0060	0.00698882	0.0027	0.0211	0.0009	0	0	0.0002	0.0012	0.0056	0.002348	363	154602	rs114947771	0.0010	0.0010	0.0009	0.0010	0.0197	0.0009	0.0009	0.0184	0.0179	0.0197	0.0010	0	0	0	0.0037	0.0001	0.0019	0.0049	0.0054	0.0054	0.0053	0.0055	0.0177	0.0051	0.0049	0.0166	0.0162	0.0177	0	0.0021	0	0	0	0.0171	0.0003	0.0019	0.0041	0.458	0.08787	T	0.331	0.18505	T	0.004	0.12183	B	0.005	0.11217	B	0.600318	0.10965	N	0.822262	1	0.08975	N	1.675	0.43121	L	1.94	0.22678	T	-0.5	0.15782	N	0.056	0.02759	-0.9578	0.39589	T	0.014	0.05513	T	10	0.0025629401	0.00039	T	.	.	.	0.062	0.17934	.	.	0.148003135375	0.14442	0.09573862774891537	0.09505	0.257828214708	0.28344	0.248316913843	0.03593	T	0.320658	0.69183	T	-0.693018	0.00040	T	-0.751993	0.03409	T	0.00357389410588122	0.00038	T	0.624837	0.24114	T	0.031993896	0.03142	0.043555982	0.05446	0.031993896	0.03141	0.043555982	0.05445	-3.384	0.14842	T	.	.	0.068	0.02894	B	.;.	.;.	-0.247421	0.02858	0.403	0.93237251752199024	0.22921	0.03039	0.07929	N	AEFBCI	0.073828	0.14778	N	-0.976152821674778	0.09114	0.4300726	-0.927800004841996	0.11440	0.5827834	0.810500358021345	0.24346	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.68	0.014	0.13420	0.040000	0.13791	-6.986000	0.01258	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.1235:0.7051:0.0:0.1715	7.396	0.26111	71	0.96981	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2405.33	38	chr11	57491258	.	C	T	2405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.022;DP=916;ExcessHet=0;FS=1.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.573;SOR=0.837	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1471	18	0	1	0
chr11	57500817	57500817	C	T	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon5:c.G427A:p.G143S,SLC43A1:NM_003627:exon5:c.G427A:p.G143S	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.0368459282412	.	.	2.49e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750737397	9.577e-06	9.577e-06	2.722e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.97e-05	1.97e-05	0	4.033e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	0	0	0.0006	0.064	0.36509	T	0.006	0.70582	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.495	0.72670	M	-1.02	0.76300	T	-4.82	0.80851	D	0.92	0.92317	-0.5705	0.65994	T	0.310	0.68030	T	10	0.9116697	0.90532	D	0.036846	0.57248	D	0.736	0.90808	0.843	0.94784	0.884397672205	0.88326	0.8351483235431836	0.83474	0.928649804324	0.71733	0.741751372814	0.73230	T	0.632587	0.88632	D	0.191778	0.73126	D	0.274368	0.86816	D	0.967074573040009	0.67789	D	0.89721	0.83911	D	0.5110833	0.67742	0.4949911	0.70793	0.5110833	0.67743	0.4949911	0.70794	-11.755	0.83637	D	.	.	0.554	0.73851	A	.;.;.	.;.;.	5.117802	0.85593	28.6	0.99874664344378505	0.95160	0.92785	0.56539	D	AEFBCI	0.882151	0.81004	D	0.445719315267757	0.63960	4.640304	0.519662411189839	0.69315	5.342755	0.999999999952226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.177000	0.77194	5.928000	0.51272	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.763	0.77871	71	0.96981	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	34	chr11	57500817	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.043;SOR=0.795	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	57698565	57698565	C	T	exonic	ZDHHC5	.	nonsynonymous SNV	ZDHHC5:NM_015457:exon11:c.C1129T:p.R377C	.	.	.	.	.	.	.	.	.	.	.	3492103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.0480074991697	.	0.000199681	5.304e-05	0	0	0.0003	0	4.644e-05	0	0	5.17e-05	8	154602	rs189780817	1.999e-05	1.984e-05	1.919e-05	2.081e-05	0.0002	1.403e-05	1.213e-05	8.2e-05	5.785e-05	0	0	0	0.0002	0	0	1.898e-05	0	1.19e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	0.153	0.33585	T	0.148	0.44905	T	0.993	0.65571	D	0.835	0.59863	P	0.200522	0.16612	N	0.641922	1	0.81001	D	0.97	0.24054	L	0.25	0.83413	T	-2.36	0.53258	N	0.781	0.77789	0.142	0.84918	D	0.603	0.85898	D	10	0.21187308	0.37629	T	0.048007	0.63179	D	0.240	0.54500	.	.	0.794912117604	0.79300	0.5159133805237306	0.51514	0.251437332666	0.27727	0.75462436676	0.75129	T	0.200618	0.55826	T	0.0548485	0.58964	T	0.197387	0.82985	D	0.171727226392829	0.18697	T	0.834417	0.53747	T	0.10630406	0.25136	0.09650987	0.22934	0.10630406	0.25136	0.09650987	0.22934	-8.229	0.62620	D	.	.	0.236	0.50166	B	.;.;.	.;.;.	4.660982	0.74398	26.2	0.99890037348159755	0.96436	0.97046	0.72376	D	AEFDBCI	0.832106	0.75053	D	0.637911012754812	0.75587	6.332664	0.666138984789145	0.79817	7.163291	0.999999666890762	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.166000	0.57992	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.386	0.87306	328	0.86572	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	853.33	35	chr11	57698565	.	C	T	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=695;ExcessHet=0;FS=2.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.71;SOR=0.963	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1261	18	0	1	0
chr11	57712035	57712035	C	A	exonic	MED19	.	nonsynonymous SNV	MED19:NM_001317078:exon1:c.G145T:p.A49S,MED19:NM_153450:exon1:c.G145T:p.A49S	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00511960050775	.	0.000998403	0.0024	0	0	0	0	0.0038	0.0076	0.0022	0.000718	111	154602	rs199862897	0.0036	0.0035	0.0036	0.0036	0.0043	0.0035	0.0035	0.0042	0.0042	0.0005	0.0012	4.047e-05	5.725e-05	0.0017	0.0032	0.0043	0.0022	0.0011	0.0027	0.0027	0.0028	0.0025	0.0042	0.0024	0.0024	0.0038	0.0036	0.0008	0	0.0037	0	0	0.0018	0.0034	0.0042	0.0028	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003949	0.34294	N	0.314029	0.925736	0.27185	N	.	.	.	.	.	.	.	.	.	.	.	-1.0185	0.24204	T	0.052	0.22269	T	9	0.006569475	0.00149	T	0.00512	0.13001	T	0.012	0.01476	.	.	0.082315109003	0.07666	.	.	0.425041072685	0.42916	0.579456925392	0.50009	T	.	.	.	-0.57363	0.00211	T	-0.596489	0.13107	T	0.00998608098987356	0.00133	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.146126	0.15336	11.77	0.80564318796584633	0.13262	0.92037	0.54805	D	ALL	0.300700	0.40942	N	-0.7595252279939	0.14376	0.7155984	-0.662207444625267	0.17910	0.9543856	0.99999999999638	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.03	2.73	0.31266	1.509000	0.35387	0.264000	0.16579	0.549000	0.26987	0.997000	0.40164	0.013000	0.20296	0.043000	0.14563	0.0:0.7441:0.0:0.2559	7.200	0.25051	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	34	chr11	57712035	.	C	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.781;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.508;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	18	0	1	0
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031282	0.030303	0.027174	0.026316	0.050000	0.034483	0.049383	0.030303	0.02632	1095.33	34	chr11	57741941	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.661;DP=766;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.807;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,967:.	18	0	1	0
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H,CTNND1:NM_001085463:exon4:c.G557A:p.R186H,CTNND1:NM_001085464:exon4:c.G557A:p.R186H,CTNND1:NM_001085465:exon4:c.G557A:p.R186H,CTNND1:NM_001085466:exon4:c.G557A:p.R186H,CTNND1:NM_001085467:exon4:c.G557A:p.R186H,CTNND1:NM_001085468:exon4:c.G557A:p.R186H,CTNND1:NM_001206890:exon4:c.G557A:p.R186H,CTNND1:NM_001085462:exon5:c.G860A:p.R287H,CTNND1:NM_001206883:exon5:c.G698A:p.R233H,CTNND1:NM_001206884:exon5:c.G698A:p.R233H,CTNND1:NM_001206886:exon5:c.G698A:p.R233H,CTNND1:NM_001206887:exon5:c.G698A:p.R233H,CTNND1:NM_001206888:exon5:c.G698A:p.R233H,CTNND1:NM_001085458:exon6:c.G860A:p.R287H,CTNND1:NM_001085459:exon6:c.G860A:p.R287H,CTNND1:NM_001085460:exon6:c.G860A:p.R287H,CTNND1:NM_001085461:exon6:c.G860A:p.R287H,CTNND1:NM_001206885:exon6:c.G860A:p.R287H,CTNND1:NM_001206889:exon6:c.G698A:p.R233H,CTNND1:NM_001206891:exon6:c.G698A:p.R233H,CTNND1:NM_001331:exon6:c.G860A:p.R287H	.	421	1072	28	1	0	30	0.0137994	.	.	.	3207144	CTNND1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.007576	0.07895	4635.79	37	chr11	57796896	.	G	A	4635.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.504;DP=989;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.731;SOR=0.7	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1752,0,1631	16	0	3	0
chr11	58227978	58227983	TGTTCC	-	exonic	OR10Q1	.	nonframeshift deletion	OR10Q1:NM_001004471:exon1:c.893_898del:p.R298_N299del	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00299521	0.0024	0.0002	0.0029	0.0001	0.0002	0.0023	0.0022	0.0059	0.0004995	13	26028	rs569971760	0.0020	0.0020	0.0018	0.0023	0.0067	0.0020	0.0019	0.0062	0.0061	0.0002	0.0039	0.0002	2.519e-05	0.0002	0.0024	0.0018	0.0020	0.0067	0.0016	0.0016	0.0016	0.0016	0.0058	0.0014	0.0014	0.0041	0.0036	0.0003	0	0.0031	0	0	0.0004	0	0.0022	0.0019	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2448.29	33	chr11	58227977	.	TTGTTCC	T	2448.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=780;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=-0.068;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.037879	0.02632	1749.33	43	chr11	58267476	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.2;DP=894;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.228;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	18	0	1	0
chr11	58358241	58358241	T	C	exonic	OR5B17	.	nonsynonymous SNV	OR5B17:NM_001005489:exon1:c.A829G:p.T277A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000682861566516	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs766489079	2.669e-05	2.668e-05	2.451e-05	2.888e-05	3.509e-05	1.998e-05	1.754e-05	2.626e-05	2.306e-05	0	0	0	0	0	0	3.509e-05	0	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.142	0.25457	T	0.055	0.46862	T	0.04	0.21238	B	0.074	0.28220	B	0.001787	0.37998	U	0.000000	1	0.08975	N	2.22	0.62911	M	8.48	0.00215	T	-3.79	0.71639	D	0.106	0.09066	-0.9710	0.36988	T	0.001	0.00188	T	10	0.056564897	0.06361	T	6.83E-4	0.00400	T	0.035	0.08770	0.333	0.32005	0.0716867268079	0.06686	0.03207963855331097	0.03155	0.0101620633804	0.00935	0.159921199083	0.00010	T	0.018313	0.14784	T	-0.520199	0.00439	T	-0.804711	0.01787	T	0.0738341870224485	0.09179	T	0.580242	0.20999	T	0.1097917	0.25955	0.122031726	0.29438	0.1097917	0.25955	0.122031726	0.29438	-5.7	0.43694	T	.	.	0.077	0.06571	B	.	.	0.177004	0.05651	2.101	0.46574822848071051	0.03741	0.10930	0.16291	N	AEFI	0.105861	0.21139	N	-1.20030707093553	0.04997	0.226754	-1.28598258361526	0.04619	0.2183102	1.81588791561257E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.09	0.687	0.17184	-0.320000	0.08070	-5.642000	0.01646	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2133:0.0:0.7867	6.974	0.23844	259	0.89842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	241	chr11	58358241	.	T	C	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.128;DP=2284;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.115;SOR=0.722	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr11	58423094	58423094	G	-	exonic	OR5B2	.	frameshift deletion	OR5B2:NM_001005566:exon1:c.168delC:p.M57Cfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.25e-06	9.612e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs762686526	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.99e-05	0	0	0	0	0.0002	0	9.936e-05	2.319e-05	6.584e-06	6.57e-06	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2628.29	76	chr11	58423093	.	TG	T	2628.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1208;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=1.64;SOR=0.797	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr11	58507704	58507704	C	T	exonic	OR5B21	.	nonsynonymous SNV	OR5B21:NM_001005218:exon1:c.G402A:p.M134I	.	.	.	.	.	.	.	.	.	.	.	3462766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0090486977276	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs779979059	4.788e-06	4.788e-06	6.806e-06	2.75e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.022	0.57587	D	0.489	0.36925	P	0.176	0.35644	B	0.000424	0.44522	U	0.000000	0.894921	0.36036	D	2.355	0.67662	M	6.65	0.00510	T	-3.45	0.67589	D	0.841	0.83678	-0.6366	0.63291	T	0.003	0.00994	T	10	0.6892299	0.71752	D	0.009049	0.23821	T	0.130	0.35528	0.485	0.56780	0.395745362164	0.39188	0.278243049008385	0.27737	0.0321975740341	0.03353	0.371055930853	0.20983	T	0.029046	0.20900	T	-0.128277	0.31775	T	-0.358391	0.38238	T	0.432380467653275	0.30149	T	0.872113	0.57861	D	0.59902495	0.72639	0.7200628	0.83472	0.59902495	0.72640	0.7200628	0.83473	-6.583	0.50923	T	.	.	0.485	0.63881	A	.	.	3.304609	0.45380	22.1	0.99276167207635002	0.57730	0.97394	0.74471	D	AEFGBI	0.672719	0.63902	D	0.194736205237295	0.50947	3.279951	0.232162456563635	0.51640	3.344852	0.999999971280157	0.74766	0.446893	0.09132	0	0.232529	0.04832	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.2	5.2	0.71720	4.968000	0.63441	3.729000	0.39612	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.368000	0.26066	0.0:1.0:0.0:0.0	17.457	0.87503	594	0.68584	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1743.33	34	chr11	58507704	.	C	T	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=803;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.083;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr11	58712821	58712821	G	T	exonic	GLYAT	.	nonsynonymous SNV	GLYAT:NM_005838:exon4:c.C255A:p.N85K,GLYAT:NM_201648:exon4:c.C255A:p.N85K	.	10	1504	8	0	0	8	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00641304071729	.	0.000399361	0.0015	0.0004	0.0010	0	0.0011	0.0023	0	0.0004	0.0012742	197	154602	rs137908036	0.0016	0.0016	0.0017	0.0015	0.0026	0.0015	0.0015	0.0018	0.0018	0.0003	0.0009	0.0002	0	0.0012	0.0026	0.0019	0.0014	0.0003	0.0012	0.0012	0.0012	0.0011	0.0019	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0007	0	0	0.0011	0	0.0019	0.0033	0.0002	1.0	0.00964	T	1.0	0.03056	T	0.009	0.15093	B	0.038	0.23361	B	0.060675	0.22230	N	0.513957	0.992447	0.23881	N	0.92	0.23413	L	2.38	0.15843	T	-1.82	0.42763	N	0.383	0.46180	-0.9663	0.37954	T	0.019	0.07939	T	10	0.0150876045	0.00317	T	0.006413	0.16870	T	0.041	0.10877	0.529	0.63560	0.203808441222	0.19973	0.18301394953461203	0.18220	0.0199914739455	0.01959	0.577368021011	0.49715	T	0.036045	0.23955	T	-0.686869	0.00044	T	-0.766201	0.02895	T	0.00243172802049241	0.00025	T	0.390061	0.09662	T	0.0658546	0.14116	0.06314419	0.12465	0.0658546	0.14115	0.06314419	0.12465	-2.792	0.08110	T	.	.	0.128	0.30103	B	.;.;.;.	.;.;.;.	0.187650	0.05743	2.187	0.097825764299607765	0.00108	0.06412	0.12416	N	AEFI	0.377562	0.46129	N	-1.1409239168054	0.05931	0.2716914	-1.077985922553	0.08134	0.3986475	1.70090071504786E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.433	0.15747	-0.237000	0.09007	-3.768000	0.02550	-0.148000	0.12190	0.033000	0.20612	0.000000	0.08366	0.034000	0.13613	0.412:0.0:0.4063:0.1817	3.240	0.06378	649	0.63102	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1779.33	33	chr11	58712821	.	G	T	1779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=735;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.37;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1425:.	18	0	1	0
chr11	58712822	58712822	T	G	exonic	GLYAT	.	nonsynonymous SNV	GLYAT:NM_005838:exon4:c.A254C:p.N85T,GLYAT:NM_201648:exon4:c.A254C:p.N85T	.	10	1504	8	0	0	8	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00450410921073	.	0.000399361	0.0015	0.0004	0.0010	0	0.0011	0.0023	0	0.0004	0.0012742	197	154602	rs142339923	0.0016	0.0016	0.0017	0.0015	0.0026	0.0015	0.0015	0.0018	0.0018	0.0003	0.0009	0.0002	0	0.0012	0.0026	0.0019	0.0014	0.0003	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0007	0	0	0.0012	0	0.0019	0.0033	0.0002	0.32	0.13566	T	0.497	0.11299	T	0.08	0.24543	B	0.156	0.34472	B	0.060675	0.22230	N	0.513957	0.99804	0.22380	N	2.51	0.73131	M	2.28	0.17271	T	-3.0	0.62343	D	0.353	0.41162	-1.0080	0.27541	T	0.037	0.16160	T	10	0.017341107	0.00370	T	0.004504	0.11063	T	0.045	0.12272	.	.	0.335661160332	0.33175	0.13596285544382625	0.13520	0.0235427775543	0.02386	0.538153648376	0.44185	T	0.072855	0.34555	T	-0.645537	0.00077	T	-0.70683	0.05460	T	0.014763194032938	0.00309	T	0.543646	0.18539	T	0.10039069	0.23703	0.08561488	0.19779	0.10039069	0.23703	0.08561488	0.19779	-3.67	0.18876	T	.	.	0.125	0.26825	B	.;.;.;.	.;.;.;.	1.706761	0.21738	15.33	0.91411372871746632	0.20678	0.06203	0.12189	N	AEFI	0.236675	0.35908	N	-0.681582902373241	0.16547	0.8440112	-0.694281930601866	0.17103	0.9078997	1.71002560367729E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.553	0.16424	0.866000	0.27608	1.132000	0.24334	0.665000	0.62972	0.052000	0.21487	0.019000	0.20708	0.032000	0.13371	0.0:0.1722:0.3291:0.4987	4.471	0.11131	649	0.63102	Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;Glycine N-acyltransferase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1779.33	33	chr11	58712822	.	T	G	1779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=734;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.38;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1425:.	18	0	1	0
chr11	58955717	58955717	G	A	exonic	GLYATL1	.	nonsynonymous SNV	GLYATL1:NM_001220496:exon7:c.G599A:p.R200H,GLYATL1:NM_080661:exon7:c.G692A:p.R231H,GLYATL1:NM_001220494:exon8:c.G599A:p.R200H,GLYATL1:NM_001354699:exon8:c.G599A:p.R200H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.003162240704	.	.	2.473e-05	0	8.645e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs768018652	4.583e-05	4.583e-05	5.036e-05	4.125e-05	6.708e-05	3.661e-05	3.347e-05	4.091e-05	3.741e-05	2.987e-05	6.708e-05	0	0	3.744e-05	0	5.216e-05	3.311e-05	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.057	0.39575	T	0.05	0.55341	T	0.001	0.14184	B	0.005	0.13708	B	0.563429	0.11312	N	0.721973	1	0.08975	N	1.985	0.53793	M	2.13	0.19588	T	-3.34	0.67824	D	0.135	0.19593	-0.9923	0.32012	T	0.045	0.19316	T	10	0.43254614	0.57585	T	0.003162	0.06906	T	0.034	0.08419	0.784	0.90768	0.233785782151	0.22967	0.2913123528685464	0.29044	0.0813420606083	0.09155	0.205710232258	0.00642	T	0.19323	0.54864	T	-0.372134	0.03487	T	-0.596474	0.13109	T	0.0979728251695633	0.12133	T	0.684232	0.29249	T	0.062453534	0.13045	0.07114148	0.15198	0.062453534	0.13045	0.07114148	0.15198	-7.732	0.61118	D	.	.	0.086	0.13597	B	.;.;.	.;.;.	0.447065	0.08170	4.906	0.94267061017102849	0.24551	0.01923	0.05872	N	AEFBI	0.333013	0.43224	N	-1.09209530830875	0.06787	0.3134895	-1.21100008086377	0.05732	0.2739678	8.40143870920467E-5	0.04703	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	2.77	-0.588	0.11101	0.064000	0.14310	-0.392000	0.09469	-0.362000	0.05498	0.016000	0.19238	0.000000	0.08366	0.007000	0.07825	0.2804:0.0:0.5019:0.2177	2.804	0.05090	462	0.78611	Glycine N-acyltransferase, N-terminal;.;Glycine N-acyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	34	chr11	58955717	.	G	A	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=751;ExcessHet=0;FS=7.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.434;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr11	59087137	59087137	A	G	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon2:c.A152G:p.E51G	.	434	1065	22	1	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	.	.	.	.	.	.	.	.	0.0056093	146	26028	rs371929838	0.0054	0.0075	0.0048	0.0059	0.0222	0.0053	0.0052	0.0210	0.0205	0.0105	0.0039	0.0090	0.0067	0.0020	0.0129	0.0030	0.0063	0.0222	0.0064	0.0091	0.0062	0.0066	0.0304	0.0060	0.0059	0.0263	0.0247	0.0101	0.0011	0.0033	0.0107	0.0054	0.0020	0.0068	0.0038	0.0077	0.0304	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.0076552927	0.00174	T	.	.	.	.	.	.	.	.	.	0.06532608308566358	0.06471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588241	0.21547	T	0.11397161	0.26911	0.30475253	0.56503	0.11397161	0.26911	0.30475253	0.56502	-6.036	0.46580	T	.	.	0.113	0.22208	B	.	.	1.979036	0.25141	16.65	0.74871709088921856	0.10859	0.05064	0.10856	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00281901235436436	0.09726	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.0518458	0.10732	2.57	2.57	0.29928	4.056000	0.57161	4.681000	0.44321	0.375000	0.20354	0.315000	0.25459	0.965000	0.29475	0.058000	0.15825	1.0:0.0:0.0:0.0	6.877	0.23335	628	0.65206	Glycine N-acyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3155.83	40	chr11	59087137	.	A	G	3155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=978;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.37;MQRankSum=-8.875;QD=9.89;ReadPosRankSum=-0.172;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1050	17	0	2	0
chr11	59093952	59093952	G	T	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon4:c.G332T:p.G111V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563991825	2.257e-05	2.314e-05	1.656e-05	2.758e-05	0.0003	1.203e-05	9.5e-06	1.581e-05	8.38e-06	0	0	0	0	0	0.0003	1.933e-05	6.909e-05	5.96e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.538	0.09829	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.09707844	0.17459	T	.	.	.	.	.	.	.	.	.	0.04695298924126916	0.04638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662434	0.27137	T	0.041321546	0.06064	0.10214707	0.24475	0.041321546	0.06063	0.10214707	0.24475	-1.105	0.01123	T	.	.	0.188	0.40489	B	.	.	0.729875	0.10990	7.652	0.43266887562818179	0.03246	0.00633	0.02779	N	AEFGI	.	.	.	.	.	.	.	.	.	0.905092077586192	0.26195	0.163922	0.03765	0	0.156668	0.03792	0	0.10224	0.03073	0	0.075334	0.01956	0	0.0506562	0.09881	1.96	-1.32	0.08721	-0.532000	0.06252	-0.527000	0.08657	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3613:0.0:0.3737:0.265	1.951	0.03163	628	0.65206	Glycine N-acyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	41	chr11	59093952	.	G	T	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.617;DP=765;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.95;MQRankSum=-2.043;QD=10.72;ReadPosRankSum=-1.279;SOR=0.96	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr11	59151775	59151775	G	A	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.G107A:p.C36Y,FAM111A:NM_001374867:exon3:c.G107A:p.C36Y,FAM111A:NM_001374868:exon3:c.G107A:p.C36Y,FAM111A:NM_001312911:exon4:c.G107A:p.C36Y,FAM111A:NM_001374850:exon4:c.G107A:p.C36Y,FAM111A:NM_001374855:exon4:c.G107A:p.C36Y,FAM111A:NM_001374856:exon4:c.G107A:p.C36Y,FAM111A:NM_001374859:exon4:c.G107A:p.C36Y,FAM111A:NM_001374862:exon4:c.G107A:p.C36Y,FAM111A:NM_001374863:exon4:c.G107A:p.C36Y,FAM111A:NM_001374865:exon4:c.G107A:p.C36Y,FAM111A:NM_001374866:exon4:c.G107A:p.C36Y,FAM111A:NM_001374869:exon4:c.G107A:p.C36Y,FAM111A:NM_001374870:exon4:c.G107A:p.C36Y,FAM111A:NM_022074:exon4:c.G107A:p.C36Y,FAM111A:NM_198847:exon4:c.G107A:p.C36Y,FAM111A:NM_001142519:exon5:c.G107A:p.C36Y,FAM111A:NM_001142520:exon5:c.G107A:p.C36Y,FAM111A:NM_001142521:exon5:c.G107A:p.C36Y,FAM111A:NM_001312910:exon5:c.G107A:p.C36Y,FAM111A:NM_001374804:exon5:c.G107A:p.C36Y,FAM111A:NM_001374858:exon5:c.G107A:p.C36Y,FAM111A:NM_001374860:exon5:c.G107A:p.C36Y,FAM111A:NM_001374861:exon5:c.G107A:p.C36Y,FAM111A:NM_001374864:exon5:c.G107A:p.C36Y,FAM111A:NM_001312909:exon6:c.G107A:p.C36Y,FAM111A:NM_001374848:exon6:c.G107A:p.C36Y,FAM111A:NM_001374849:exon6:c.G107A:p.C36Y,FAM111A:NM_001374851:exon6:c.G107A:p.C36Y,FAM111A:NM_001374852:exon6:c.G107A:p.C36Y,FAM111A:NM_001374853:exon6:c.G107A:p.C36Y,FAM111A:NM_001374854:exon6:c.G107A:p.C36Y,FAM111A:NM_001374857:exon7:c.G107A:p.C36Y	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	428	1072	22	0	0	22	0.010157	.	.	.	752706	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	.	0.0004	0.00179712	0.0029	0	0.0005	0	0	0.0008	0.0034	0.0188	0.0023803	368	154602	rs143326650	0.0013	0.0013	0.0008	0.0018	0.0167	0.0012	0.0012	0.0160	0.0157	6.281e-05	0.0002	0.0016	2.524e-05	0	0.0060	0.0002	0.0013	0.0167	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0096	0.0087	7.219e-05	0	0.0003	0.0020	0	0	0	0.0003	0.0014	0.0120	0.022	0.49117	D	0.045	0.49390	D	0.002	0.09854	B	0.001	0.04355	B	0.825835	0.09144	N	0.912601	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-1.76	0.50337	N	0.063	0.03502	-1.0209	0.23421	T	0.058	0.24502	T	10	0.00320369	0.00054	T	.	.	.	0.040	0.10527	.	.	0.132336055621	0.12781	0.12562148334257048	0.12488	0.0254931719734	0.02608	0.276431590319	0.07000	T	0.016882	0.30042	T	-0.606615	0.00133	T	-0.630511	0.10376	T	0.00571938942511619	0.00062	T	0.318368	0.08641	T	0.06359537	0.13407	0.08472309	0.19511	0.050478965	0.09124	0.07409121	0.16172	-4.687	0.33246	T	.	.	0.097	0.23986	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.443511	0.02056	0.188	0.37765248010604441	0.02508	0.05936	0.11892	N	AEFGBCI	0.049157	0.08465	N	-1.29738466777112	0.03707	0.1660839	-1.30135598189309	0.04413	0.2080986	0.999917344028308	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.23	0.20358	-0.065000	0.11575	-1.757000	0.04782	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4461:0.3587:0.1952	4.960	0.13412	617	0.66297	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.000000	0.012195	0.026515	0.02632	664.33	24	chr11	59151775	.	G	A	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.781;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr11	59172708	59172708	C	T	exonic	DTX4	.	nonsynonymous SNV	DTX4:NM_015177:exon1:c.C113T:p.P38L	.	.	.	.	.	.	.	.	.	.	.	3431033	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.134311941727	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	5.82e-05	9	154602	rs765272910	3.86e-05	3.899e-05	3.426e-05	4.298e-05	0.0007	3.048e-05	2.74e-05	0.0002	0.0002	0	0	0	0	0	0.0007	1.984e-05	6.687e-05	0.0003	4.614e-05	4.598e-05	2.576e-05	6.749e-05	0.0004	2.115e-05	1.531e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	7.367e-05	0	0.0004	0.289	0.15047	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999982	0.81001	D	2.045	0.56016	M	1.03	0.40469	T	-1.94	0.45042	N	0.136	0.13341	-1.0978	0.04367	T	0.056	0.23413	T	9	0.059616238	0.07195	T	0.134312	0.81673	D	0.071	0.20720	0.525	0.62967	0.382940591053	0.37911	0.7394737173334882	0.73892	0.575609084171	0.53551	0.921503186226	0.98436	D	0.05249	0.29175	T	-0.476988	0.00770	T	-0.602927	0.12566	T	0.0509946439815075	0.05673	T	0.752425	0.37456	T	0.09265665	0.21743	0.17561732	0.40039	0.09265665	0.21743	0.17561732	0.40039	-5.328	0.40219	T	.	.	0.232	0.46447	B	.	.	3.977069	0.58442	24.0	0.98651950597633342	0.44206	0.19893	0.20836	N	ALL	0.116386	0.22845	N	-0.745359071149468	0.14759	0.7379818	-0.666992742836865	0.17789	0.9474105	0.999999999969643	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.13	3.21	0.35933	1.681000	0.37234	6.993000	0.57168	0.522000	0.23927	0.118000	0.23139	1.000000	0.68203	0.996000	0.76049	0.0:0.8944:0.0:0.1056	9.345	0.37262	618	0.66225	WWE domain|WWE domain|WWE domain, subgroup	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001040	0.000000	0.001359	0.003521	0.000000	0.000000	0.000000	0.000000	0.02632	1127.33	48	chr11	59172708	.	C	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.228;DP=732;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.914;SOR=0.577	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1061	18	0	1	0
chr11	60334918	60334918	A	G	exonic	MS4A6E	.	nonsynonymous SNV	MS4A6E:NM_139249:exon1:c.A23G:p.N8S,MS4A6E:NM_001376909:exon2:c.A23G:p.N8S	.	.	.	.	.	.	.	.	.	.	.	3375307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00267996380469	0.0003	0.000199681	0.0002	0.0002	0	0	0.0006	0.0002	0	6.057e-05	0.0001746	27	154602	rs150698992	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0	0	0.0003	0.0005	0.0003	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.624e-05	0	0	0	0	0.0004	0	0.0003	0.0005	0.0004	0.332	0.13045	T	0.213	0.26467	T	0.008	0.14655	B	0.001	0.04355	B	0.670200	0.06031	N	1.165440	1	0.08975	N	0.915	0.23335	L	2.98	0.09356	T	-1.12	0.28906	N	0.1	0.08227	-0.9359	0.43257	T	0.015	0.06042	T	10	0.018796593	0.00412	T	0.00268	0.05492	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.11627341595715314	0.11555	0.0733822023131	0.08227	0.26119235158	0.05034	T	0.002536	0.01924	T	-0.64935	0.00073	T	-0.877036	0.00679	T	0.0400828011333942	0.03705	T	0.657134	0.26688	T	0.035547968	0.04206	0.033340074	0.02213	0.035547968	0.04205	0.033340074	0.02213	-2.582	0.06367	T	.	.	0.071	0.03736	B	.	.	-0.361344	0.02361	0.257	0.94888347600758771	0.25727	0.00199	0.01145	N	AEFGBI	0.017080	0.00424	N	-1.46637972276425	0.02091	0.09198222	-1.58682512069968	0.01735	0.07891483	0.767940321769255	0.23621	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	2.4	-4.79	0.02966	-0.595000	0.05822	-0.778000	0.07467	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2377:0.1865:0.5758:0.0	5.781	0.17573	828	0.39726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2191.33	34	chr11	60334918	.	A	G	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=1295;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.833;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr11	60842456	60842456	C	T	exonic	CCDC86	.	nonsynonymous SNV	CCDC86:NM_024098:exon1:c.C332T:p.P111L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0382605180126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.844	0.46645	P	0.46	0.46423	P	0.021185	0.26883	N	0.359094	0.999997	0.08975	N	2.78	0.81115	M	-0.31	0.68030	T	-2.32	0.51478	N	0.21	0.23380	-0.6555	0.62473	T	0.279	0.65068	T	10	0.19570488	0.35433	T	0.038261	0.58114	D	0.163	0.42028	0.442	0.49811	0.739573928057	0.73723	0.15761554868772645	0.15682	0.461582354357	0.45693	0.317077845335	0.12978	T	0.176725	0.52677	T	-0.00105368	0.51510	T	-0.23929	0.50867	T	0.942745745182037	0.61723	D	0.573543	0.20534	T	0.05067571	0.09191	0.0828081	0.18928	0.05067571	0.09191	0.0828081	0.18928	-4.497	0.30849	T	.	.	0.085	0.10400	B	.	.	2.180929	0.27801	17.58	0.99707575102409629	0.81074	0.05211	0.11037	N	AEFDGBCI	0.099117	0.19958	N	-0.213918070325149	0.32562	1.837697	-0.379004350947452	0.25623	1.410286	0.99999997287544	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.36	3.44	0.38486	0.263000	0.18247	-0.023000	0.12899	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.9017:0.0:0.0983	10.219	0.42365	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr11	60842456	.	C	T	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.97;DP=881;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.39;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1003	18	0	1	0
chr11	60842643	60842643	G	T	exonic	CCDC86	.	nonsynonymous SNV	CCDC86:NM_024098:exon1:c.G519T:p.E173D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.021266309948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.438	0.13403	T	0.982	0.60036	D	0.765	0.56630	P	0.000298	0.46274	D	0.138226	0.979077	0.25206	N	2.045	0.56016	M	0.52	0.55266	T	-0.22	0.10480	N	0.12	0.11054	-0.8937	0.48605	T	0.191	0.54272	T	10	0.22831908	0.39733	T	0.021266	0.44012	T	0.143	0.38195	0.366	0.37361	0.605489583597	0.60233	0.07805181340699992	0.07741	0.386528501848	0.39939	0.574302911758	0.49284	T	0.123324	0.44761	T	-0.195031	0.21523	T	-0.517925	0.20504	T	0.447809815406799	0.30717	T	0.60064	0.22426	T	0.11715794	0.27624	0.07382185	0.16082	0.11715794	0.27624	0.07382185	0.16082	-5.37	0.40630	T	.	.	0.197	0.41947	B	.	.	3.002959	0.40130	21.1	0.99620931487747233	0.75413	0.46316	0.27733	N	AEFDGBCI	0.195333	0.32238	N	0.0489950379060494	0.44095	2.689972	-0.0492513388723602	0.37522	2.198143	0.999998532979551	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.657601	0.63696	0	.	.	4.1	2.21	0.27042	0.318000	0.19252	1.803000	0.28899	0.676000	0.76740	0.075000	0.22209	1.000000	0.68203	0.376000	0.26245	0.2078:0.0:0.7922:0.0	7.850	0.28613	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	259.33	34	chr11	60842643	.	G	T	259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.014;DP=790;ExcessHet=0;FS=49.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=-0.889;SOR=5.994	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1003	18	0	1	0
chr11	60869160	60869160	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon2:c.G212A:p.R71Q	Oocyte maturation defect 1, Autosomal recessive	149	1343	27	3	0	33	0.0121368	.	.	.	2224241	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	0.00510725465637	0.0040	0.00319489	0.0033	0.0027	0.0021	0.0002	0.0005	0.0036	0.0022	0.0060	0.0032341	500	154602	rs140966353	0.0036	0.0036	0.0035	0.0037	0.0123	0.0035	0.0035	0.0100	0.0092	0.0023	0.0026	0.0072	5.038e-05	0.0003	0.0123	0.0036	0.0043	0.0056	0.0029	0.0029	0.0028	0.0030	0.0046	0.0027	0.0026	0.0032	0.0030	0.0025	0	0.0041	0.0078	0	0.0006	0.0102	0.0031	0.0038	0.0046	0.279	0.15561	T	0.331	0.18505	T	0.01	0.15535	B	0.001	0.04355	B	0.813309	0.09234	N	0.892825	1	0.08975	N	0.46	0.12951	N	1.91	0.23283	T	-0.35	0.12847	N	0.314	0.35408	-1.0011	0.29602	T	0.033	0.14029	T	10	0.007021308	0.00160	T	0.005107	0.12970	T	0.027	0.05988	.	.	0.0482279557977	0.04254	0.4175740929164195	0.41673	0.0750845404494	0.08422	0.270309835672	0.06182	T	0.033341	0.22872	T	-0.691409	0.00041	T	-0.764433	0.02956	T	0.00270313092441496	0.00028	T	0.725427	0.33942	T	0.041597556	0.06155	0.041831125	0.04843	0.03818147	0.05038	0.035043903	0.02681	-4.572	0.31818	T	0.13999414575074068	0.15628	0.082	0.08948	B	.	.	0.521294	0.08901	5.681	0.9543046288191338	0.26922	0.01474	0.04912	N	AEFGBI	0.041938	0.06443	N	-1.18969183863936	0.05155	0.2343442	-1.3221762622758	0.04145	0.1948726	0.999019229266028	0.38212	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.19	-5.18	0.02624	-1.189000	0.03170	-3.097000	0.03064	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1948:0.331:0.4742:0.0	7.474	0.26533	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.008056	0.000000	0.005435	0.002924	0.000000	0.008621	0.018293	0.018939	0.02632	2262.33	37	chr11	60869160	.	G	A	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.291;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	18	0	1	0
chr11	60927744	60927744	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon3:c.G419A:p.R140Q,TMEM132A:NM_178031:exon3:c.G419A:p.R140Q	.	426	1085	9	2	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.00960284979792	0.0003	0.000998403	0.0010	0	0.0011	0	0.0002	0.0007	0.0011	0.0031	0.0008732	135	154602	rs139246153	0.0008	0.0008	0.0007	0.0008	0.0038	0.0007	0.0007	0.0028	0.0027	0.0003	0.0013	0.0015	5.038e-05	0.0002	0.0038	0.0006	0.0010	0.0031	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0025	0.0023	9.623e-05	0	0.0033	0.0009	0.0002	0.0003	0.0238	0.0006	0.0024	0.0014	1.0	0.00964	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.010746	0.29799	N	0.318283	0.996283	0.43118	D	0.61	0.15665	N	3.55	0.04799	T	0.62	0.02442	N	0.668	0.67650	-0.9804	0.34909	T	0.029	0.12673	T	10	0.029283881	0.01055	T	0.009603	0.25107	T	0.213	0.50496	.	.	0.670028505835	0.66724	0.5478189669724598	0.54707	0.954603995865	0.72758	0.689669430256	0.65658	T	0.005605	0.05051	T	-0.354254	0.04466	T	-0.284374	0.46355	T	0.0543537436849356	0.06249	T	0.891311	0.62583	D	0.056476742	0.11115	0.07006294	0.14840	0.056476742	0.11115	0.07006294	0.14840	-6.368	0.49260	T	.	.	0.164	0.37876	B	.;.	.;.	3.869591	0.56167	23.7	0.98918086380107595	0.48509	0.91272	0.53200	D	AEFDBI	0.390837	0.46951	N	0.366950004387918	0.59640	4.145119	0.37684655332523	0.60142	4.198458	0.999999998875274	0.74766	0.706548	0.73137	0	0.844039	0.99811	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	2.789000	0.47504	8.376000	0.77057	0.676000	0.76740	0.895000	0.31310	1.000000	0.68203	0.541000	0.29961	0.0:0.0:1.0:0.0	16.429	0.83672	598	0.68232	Transmembrane protein TMEM132, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.015152	0.002717	0.008772	0.050000	0.000000	0.000000	0.003788	0.02632	1272.33	34	chr11	60927744	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.096;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1210	18	0	1	0
chr11	61118243	61118243	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_014207:exon3:c.G163A:p.G55R	.	.	.	.	.	.	.	.	.	.	.	2397359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00246276351575	.	.	4.119e-05	0	8.637e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs769667296	3.352e-05	3.352e-05	2.314e-05	4.4e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0002	2.987e-05	0.0002	0	0	0	0.0002	7.194e-06	0.0001	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.602	0.08736	T	0.585	0.11263	T	0.013	0.16609	B	0.004	0.10090	B	0.000000	0.00162	N	7.018650	1	0.08975	N	-0.65	0.02095	N	1.45	0.32482	T	0.43	0.05706	N	0.16	0.16725	-1.0463	0.15447	T	0.024	0.10013	T	10	0.079823405	0.12887	T	0.002463	0.04868	T	0.049	0.13647	0.205	0.12076	0.203808441222	0.19973	0.4602924064340146	0.45947	0.346931811869	0.36591	0.199163213372	0.00433	T	0.03678	0.24231	T	-0.518124	0.00451	T	-0.685834	0.06633	T	0.0186442177483624	0.00578	T	0.253875	0.03902	T	0.15176369	0.34485	0.09451334	0.22375	0.15176369	0.34484	0.09451334	0.22375	-2.842	0.08576	T	.	.	0.082	0.15206	B	.;.	.;.	-2.003545	0.00100	0.002	0.29210506523171503	0.01538	0.00212	0.01206	N	AEFBI	0.038527	0.05466	N	-2.5738886282912	0.00011	0.0004662402	-2.66095910383646	0.00009	0.0004305258	0.999999999997489	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.86	-7.72	0.01112	-4.635000	0.00237	-20.000000	0.00162	-2.549000	0.00248	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3149:0.2709:0.2639:0.1504	1.135	0.01645	297	0.88113	SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3203.33	34	chr11	61118243	.	G	A	3203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=851;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.669;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr11	61211355	61211355	G	T	exonic	PGA3	.	nonsynonymous SNV	PGA3:NM_001079807:exon8:c.G937T:p.A313S	.	589	931	2	0	0	2	0.00107296	.	.	.	2333490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0280292814183	.	.	0.0003	0	0	0	0	0.0005	0.0057	0.0001	3.84e-05	1	26028	rs755823534	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	4.393e-05	0.0009	0.0003	0.0003	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0	0	0	0.0124	0.0005	0	0	0.411	0.10945	T	0.795	0.04288	T	.	.	.	.	.	.	0.377202	0.13441	N	0.622712	1	0.08975	N	-0.97	0.01230	N	0.49	0.55775	T	1.02	0.03521	N	0.082	0.05799	-1.0173	0.24592	T	0.036	0.15683	T	10	0.019279033	0.00428	T	0.028029	0.50763	D	0.060	0.17295	.	.	0.128874641272	0.12493	0.06197207878695254	0.06137	1.62447642288	0.89127	0.465920060873	0.34122	T	0.007279	0.06695	T	-0.438457	0.01321	T	-0.567265	0.15701	T	0.0269664793848399	0.01539	T	0.656934	0.45382	T	0.022692908	0.00950	0.04459203	0.05813	0.022692908	0.00949	0.04459203	0.05812	-1.602	0.01986	T	.	.	0.065	0.02012	B	.;.;.;.	.;.;.;.	0.112153	0.05115	1.644	0.23945399618955043	0.01036	0.01602	0.05196	N	AEFI	0.061781	0.11833	N	-1.79502074022103	0.00557	0.0240096	-1.85187403447749	0.00607	0.02696506	0.225926453640017	0.18410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.68	-7.36	0.01270	-0.197000	0.09519	-1.964000	0.04424	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.622000	0.31948	0.1933:0.0:0.4068:0.3999	5.803	0.17685	312	0.87382	Peptidase family A1 domain|Peptidase family A1 domain|Pepsin catalytic domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	472.62	34	chr11	61211355	.	G	T	472.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.1;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0416;MLEAC=1;MLEAF=0.026;MQ=39.98;MQRankSum=0.689;QD=8.75;ReadPosRankSum=-0.843;SOR=0.174	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1530	18	0	1	0
chr11	61339326	61339326	G	A	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_001351977:exon5:c.G377A:p.R126Q,TKFC:NM_001351978:exon5:c.G377A:p.R126Q,TKFC:NM_001351979:exon5:c.G377A:p.R126Q,TKFC:NM_015533:exon5:c.G377A:p.R126Q,TKFC:NM_001351976:exon6:c.G377A:p.R126Q,TKFC:NM_001351980:exon6:c.G167A:p.R56Q	.	433	1087	2	0	0	2	0.000919118	.	.	.	3346050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0117516700259	.	.	8.356e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs750037556	3.147e-05	3.147e-05	2.451e-05	3.851e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	3.417e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	5.138e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.171	0.25664	T	0.06	0.47581	T	0.031	0.20130	B	0.109	0.31370	B	0.001042	0.40475	N	0.250144	0.595796	0.30982	N	.	.	.	1.48	0.31731	T	-2.34	0.59226	N	0.178	0.19190	-1.0501	0.14369	T	0.062	0.25851	T	10	0.17458877	0.32346	T	0.011752	0.29684	T	0.058	0.16647	.	.	0.159798565429	0.15598	0.49981964076163404	0.49902	0.265355236871	0.29086	0.217150896788	0.01152	T	0.143327	0.47939	T	-0.402938	0.02215	T	-0.636273	0.09943	T	0.136922477290511	0.16007	T	0.720728	0.66592	T	0.07955872	0.18183	0.1133717	0.27361	0.07955872	0.18183	0.1133717	0.27361	-6.492	0.50224	T	.	.	0.079	0.08802	B	.;.;.	.;.;.	1.513318	0.19439	14.26	0.9942177579028415	0.63790	0.90001	0.50845	D	AEFDBI	0.441703	0.49973	N	-0.518623092572485	0.21477	1.140118	-0.442504162170972	0.23762	1.297549	0.998852967327419	0.37823	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-0.792	0.10374	1.924000	0.39695	-0.093000	0.12034	-0.739000	0.03678	1.000000	0.71638	0.001000	0.17328	0.582000	0.30943	0.3734:0.0:0.5147:0.1119	6.221	0.19895	728	0.54609	DhaK domain|DhaK domain;DhaK domain|DhaK domain;DhaK domain|DhaK domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1759.33	50	chr11	61339326	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=988;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.452;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr11	61487042	61487042	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon9:c.G869A:p.R290Q,PPP1R32:NM_145017:exon10:c.G929A:p.R310Q	.	418	1092	12	0	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0034	0.0115815	0.0047	0.0093	0.0020	0.0046	0	0.0009	0.0055	0.0208	0.0044695	691	154602	rs116129637	0.0024	0.0024	0.0019	0.0029	0.0203	0.0023	0.0023	0.0195	0.0192	0.0101	0.0019	0.0002	0.0025	1.872e-05	0.0109	0.0008	0.0045	0.0203	0.0038	0.0038	0.0031	0.0045	0.0274	0.0035	0.0034	0.0236	0.0222	0.0082	0	0.0016	0	0.0041	0	0.0034	0.0008	0.0024	0.0274	0.16	0.32141	T	0.229	0.52389	T	1.0	0.90584	D	0.947	0.68407	D	0.007634	0.31286	N	0.214708	0.917462	0.27371	N	2.585	0.75554	M	0.82	0.48142	T	-2.3	0.58733	N	0.273	0.30914	-0.8856	0.49307	T	0.159	0.49262	T	10	0.0068198144	0.00155	T	.	.	.	0.101	0.28911	.	.	0.654521474474	0.65164	0.32949659460220065	0.32862	0.226280632967	0.25184	0.350288510323	0.17963	T	0.014635	0.12421	T	-0.529328	0.00387	T	-0.517524	0.20546	T	0.027860775352958	0.01668	T	0.860614	0.56831	D	0.08371939	0.19346	0.09112916	0.21408	0.08371939	0.19346	0.09112916	0.21407	-4.55	0.31538	T	.	.	0.099	0.17742	B	.;.;.;.	.;.;.;.	2.892894	0.38319	20.7	0.9989702944340898	0.96971	0.72623	0.35540	D	AEFDGBI	0.111904	0.22138	N	0.243717286688735	0.53329	3.50225	0.150087799238917	0.47147	2.949307	0.999742528050604	0.42466	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.567892	0.33627	0	.	.	4.69	2.79	0.31792	1.741000	0.37862	0.989000	0.23179	0.654000	0.53741	1.000000	0.71638	0.711000	0.26292	0.710000	0.34452	0.1809:0.0:0.8191:0.0	8.944	0.34905	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.015152	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.02632	2773.33	44	chr11	61487042	.	G	A	2773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=903;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.155;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,43:95:99:.:.:955,0,1095:.	6	0	13	0
chr11	61740527	61740527	G	T	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918T:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0304591146957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85644996	0.84843	D	0.030459	0.52764	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569647516327	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.135522	0.85954	28.8	0.99708366932876669	0.81143	0.99757	0.99242	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5859.65	112	chr11	61740527	.	G	T	5859.65	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:95:99:.:.:955,886,2048:.	18	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,47:96:99:.:.:976,0,1087:.	2	0	17	0
chr11	61743579	61743579	G	A	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.G2219A:p.R740Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00598784205772	.	.	9.581e-06	0	0	0	0	1.676e-05	0	0	3.84e-05	1	26028	rs746977362	1.353e-05	1.437e-05	1.691e-05	1.008e-05	7.632e-05	8.65e-06	6.97e-06	2.023e-05	1.061e-05	0	0	0	7.632e-05	0	0	1.377e-05	0	1.283e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.179	0.22053	T	0.492	0.11479	T	0.001	0.07471	B	0.001	0.04355	B	0.008771	0.30676	N	0.128577	0.729101	0.33699	D	0.345	0.11182	N	1.92	0.23082	T	-0.41	0.14000	N	0.06	0.03175	-1.0660	0.10316	T	0.030	0.13067	T	10	0.07115582	0.10452	T	0.005988	0.15638	T	0.017	0.02790	0.218	0.13932	0.123314135267	0.11883	0.2217978647350055	0.22094	0.579767886639	0.53832	0.437670469284	0.30259	T	0.044091	0.26708	T	-0.434997	0.01384	T	-0.681092	0.06918	T	0.212143376469612	0.21065	T	0.835216	0.50504	T	0.07701232	0.17452	0.055452403	0.09729	0.07701232	0.17452	0.055452403	0.09728	-3.647	0.18539	T	.	.	0.069	0.03060	B	.	.	2.793491	0.36723	20.3	0.99522844218999706	0.69346	0.89030	0.49257	D	AEFBI	0.244844	0.36588	N	-0.533394565002725	0.21008	1.111699	-0.426520091031401	0.24223	1.325228	0.936264143512231	0.27247	0.554377	0.28877	0	0.547309	0.14657	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.1	1.19	0.20120	2.089000	0.41297	5.506000	0.48785	0.520000	0.23804	0.999000	0.42656	1.000000	0.68203	0.372000	0.26156	0.4011:0.0:0.5989:0.0	6.802	0.22938	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	44	chr11	61743579	.	G	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=933;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.432;SOR=1.209	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	18	0	1	0
chr11	61960013	61960013	C	T	exonic	BEST1	.	nonsynonymous SNV	BEST1:NM_001300786:exon7:c.C809T:p.A270V,BEST1:NM_001363591:exon7:c.C752T:p.A251V,BEST1:NM_001363593:exon7:c.C98T:p.A33V,BEST1:NM_001139443:exon8:c.C890T:p.A297V,BEST1:NM_001300787:exon8:c.C890T:p.A297V,BEST1:NM_001363592:exon9:c.C1273T:p.P425S,BEST1:NM_004183:exon9:c.C1070T:p.A357V	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	314406	Retinitis_pigmentosa|Iron_Overload|Retinal_dystrophy|Autosomal_dominant_vitreoretinochoroidopathy|not_provided|Vitelliform_macular_dystrophy_2|Retinitis_Pigmentosa,_Recessive	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C0282193|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086|MedGen:C3661900|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.381	.	.	0.00319489	0.0016	0	0.0001	0.0204	0	0	0	0.0003	0.0012096	187	154602	rs17854138	0.0005	0.0005	0.0005	0.0005	0.0152	0.0004	0.0004	0.0142	0.0138	0	6.749e-05	0	0.0152	0	0.0002	1.441e-05	0.0005	0.0005	0.0006	0.0006	0.0007	0.0005	0.0162	0.0005	0.0005	0.0134	0.0124	0	0	0.0001	0	0.0162	0	0	0	0.0009	0.0004	0.027	0.46513	D	0.019	0.59159	D	0.049	0.22227	B	0.026	0.20792	B	0.279222	0.14976	N	0.681670	1	0.81001	D	1.445	0.36358	L	-4.16	0.96826	D	-1.19	0.31778	N	0.182	0.22098	0.741	0.93680	D	0.844	0.94784	D	10	0.008058965	0.00183	T	.	.	.	0.492	0.77847	.	.	0.93268529992	0.93199	0.5380331734855918	0.53728	0.363252834742	0.37958	0.23274615407	0.02177	T	0.136537	0.46896	T	-0.12314	0.32612	T	0.0672616	0.74726	D	0.0245131910424559	0.01210	T	0.863414	0.56692	D	0.07150303	0.15834	0.10653247	0.25630	0.08328237	0.19226	0.13351625	0.32014	-5.904	0.48635	T	0.11505648439001614	0.10251	0.118	0.26855	B	.;.	.;.	2.685325	0.35042	19.79	0.99899219742522916	0.97124	0.82988	0.42146	D	AEFBI	0.739121	0.68377	D	-0.281230759590105	0.29873	1.660555	-0.266670482234013	0.29203	1.634283	0.999999999598712	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.02	4.08	0.46880	4.957000	0.63358	2.548000	0.33250	0.599000	0.40250	0.707000	0.28693	0.021000	0.20819	0.306000	0.24642	0.155:0.845:0.0:0.0	14.271	0.65702	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	717.33	34	chr11	61960013	.	C	T	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=713;ExcessHet=0;FS=4.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-1.012;SOR=1.322	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1372	18	0	1	0
chr11	62146792	62146792	-	GAGCAGGAGCGGCGG	exonic	INCENP	.	nonframeshift insertion	INCENP:NM_020238:exon14:c.2082_2083insGAGCAGGAGCGGCGG:p.R713_Q714insREQER,INCENP:NM_001040694:exon15:c.2094_2095insGAGCAGGAGCGGCGG:p.R717_Q718insREQER	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.031e-06	7.607e-06	5.761e-06	1.036e-05	5.713e-05	4.31e-06	3.15e-06	9.46e-06	3.54e-06	0	0	0	5.713e-05	0	0	8.456e-06	0	0	1.452e-05	1.424e-05	1.42e-05	1.485e-05	3.186e-05	2.41e-06	9e-07	.	.	3.186e-05	0	0	0	0	0	0	1.514e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	842.29	41	chr11	62146792	.	C	CGAGCAGGAGCGGCGG	842.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=822;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.341;SOR=0.915	GT:AD:DP:GQ:PL	0/1:28,24:52:99:856,0,999	18	0	1	0
chr11	62298966	62298966	G	C	exonic	SCGB1D4	.	nonsynonymous SNV	SCGB1D4:NM_206998:exon1:c.C45G:p.C15W	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	0.00199681	0.0009	0	0.0002	0	0	4.505e-05	0	0.0061	0.0007633	118	154602	rs552294907	0.0004	0.0004	0.0002	0.0006	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0.0007	3.058e-05	0.0003	0.0056	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0068	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.995	0.83170	D	0.315211	0.14365	U	0.498628	0.597792	0.32512	D	.	.	.	1.11	0.38883	T	-8.38	0.97104	D	0.406	0.44666	-0.7127	0.59820	T	0.187	0.53782	T	9	0.034885556	0.01713	T	.	.	.	0.142	0.37995	0.865	0.96050	0.128392430309	0.12331	0.34922787049157333	0.34836	0.401354669239	0.41119	0.412497580051	0.26803	T	0.326154	0.69680	T	-0.42229	0.01654	T	-0.377309	0.36036	T	0.358458636948981	0.27349	T	0.567543	0.20130	T	0.6598306	0.75890	0.48794204	0.70368	0.6598306	0.75891	0.48794204	0.70369	-8.423	0.63918	D	.	.	0.323	0.54696	B	.	.	3.308079	0.45438	22.1	0.97454596145231909	0.34048	0.32510	0.24603	N	AEFDBI	0.180267	0.30757	N	0.03681826264206	0.43537	2.644701	-0.137943927483515	0.33875	1.942458	8.20889928437106E-5	0.04703	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.27	0.238	0.14741	0.649000	0.24529	.	.	0.604000	0.46097	0.927000	0.32177	0.017000	0.20586	0.006000	0.07323	0.1741:0.28:0.5459:0.0	3.276	0.06491	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1408.33	34	chr11	62298966	.	G	C	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=754;ExcessHet=0;FS=1.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.392;SOR=0.559	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1293	18	0	1	0
chr11	62517930	62517930	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G16487A:p.G5496E,AHNAK:NM_001346446:exon5:c.G16487A:p.G5496E,AHNAK:NM_001620:exon5:c.G16487A:p.G5496E	.	433	1067	22	0	0	22	0.0102041	.	.	.	712936	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	0.0103937668529	0.0023	0.00159744	0.0026	0.0003	0.0016	0	0.0002	0.0035	0.0033	0.0031	0.0024191	374	154602	rs141151380	0.0020	0.0020	0.0018	0.0021	0.0102	0.0019	0.0019	0.0081	0.0074	0.0002	0.0015	0.0246	0	0.0002	0.0102	0.0014	0.0034	0.0039	0.0019	0.0019	0.0017	0.0020	0.0025	0.0017	0.0016	0.0016	0.0015	0.0004	0	0.0018	0.0256	0	9.413e-05	0.0102	0.0019	0.0024	0.0025	0.185	0.21550	T	0.04	0.50809	D	1.0	0.90584	D	0.988	0.77976	D	0.108070	0.19543	U	0.354781	0.999839	0.28527	N	1.355	0.33814	L	5.61	0.00817	T	-3.2	0.64710	D	0.243	0.27435	-0.8671	0.50746	T	0.007	0.02244	T	10	0.003341198	0.00058	T	0.010394	0.26871	T	0.107	0.30369	.	.	0.0884992946249	0.08302	0.1402540612639722	0.13948	0.222732914866	0.24812	0.285223901272	0.08231	T	0.460282	0.79753	T	-0.529974	0.00384	T	-0.536783	0.18613	T	0.0316999647067759	0.02258	T	0.633437	0.24778	T	0.19884504	0.41802	0.28104064	0.54083	0.19884504	0.41802	0.28104064	0.54082	-3.575	0.17496	T	.	.	0.165	0.36416	B	.	.	1.696724	0.21614	15.28	0.98743082779192959	0.45542	0.07244	0.13268	N	AEFBI	.	.	.	-0.00891160328353724	0.41451	2.479601	-0.0700399340449222	0.36634	2.134554	0.999216643973066	0.38775	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.0	3.87	0.43823	0.812000	0.26869	.	.	0.589000	0.31548	0.000000	0.06391	0.056000	0.21938	0.949000	0.49496	0.0:0.8612:0.0:0.1388	12.325	0.54331	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.006793	0.005848	0.050000	0.008621	0.018293	0.000000	0.02632	2548.33	34	chr11	62517930	.	C	T	2548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.06;DP=1020;ExcessHet=0;FS=0.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-1.351;SOR=0.762	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62518099	62518099	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G16318A:p.V5440M,AHNAK:NM_001346446:exon5:c.G16318A:p.V5440M,AHNAK:NM_001620:exon5:c.G16318A:p.V5440M	.	429	1090	3	0	0	3	0.00137426	.	.	.	701836	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.189730404579	0.0044	0.00159744	0.0042	0.0006	0.0024	0	0.0020	0.0061	0.0033	0.0034	0.0045601	705	154602	rs112663036	0.0067	0.0067	0.0070	0.0064	0.0081	0.0066	0.0065	0.0079	0.0079	0.0010	0.0028	0.0008	0	0.0014	0.0007	0.0081	0.0055	0.0028	0.0041	0.0041	0.0046	0.0037	0.0075	0.0039	0.0038	0.0070	0.0068	0.0012	0	0.0025	0.0003	0	0.0009	0.0034	0.0075	0.0043	0.0019	0.143	0.25355	T	0.009	0.66756	D	0.849	0.46879	P	0.455	0.46267	P	0.002803	0.35900	U	0.000000	0.973987	0.81001	D	0.365	0.12025	N	6.37	0.00546	T	-1.08	0.28084	N	0.2	0.22098	-0.0719	0.80737	T	0.002	0.00526	T	10	0.004359871	0.00089	T	0.18973	0.86081	D	0.122	0.33800	.	.	0.0846915920261	0.08053	0.06784116973590433	0.06722	0.0305201724853	0.03155	0.372590154409	0.21203	T	0.126861	0.45352	T	-0.536967	0.00349	T	-0.537412	0.18551	T	0.0213561442317111	0.00838	T	0.633437	0.24778	T	0.09994601	0.23594	0.07327373	0.15904	0.09994601	0.23594	0.07327373	0.15904	-5.933	0.45716	T	.	.	0.138	0.30264	B	.	.	1.190171	0.15813	12.12	0.99328261477905277	0.59661	0.49611	0.28473	N	AEFBI	.	.	.	-0.27926495474594	0.29950	1.665504	-0.315401114011253	0.27600	1.532709	0.99992931829438	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.63	3.71	0.41733	0.060000	0.14220	.	.	0.479000	0.22080	0.002000	0.15269	0.000000	0.08366	0.661000	0.32996	0.1743:0.8257:0.0:0.0	11.979	0.52398	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2021.33	34	chr11	62518099	.	C	T	2021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.044;DP=1121;ExcessHet=0;FS=9.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-2.376;SOR=1.288	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62518174	62518174	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A16243G:p.T5415A,AHNAK:NM_001346446:exon5:c.A16243G:p.T5415A,AHNAK:NM_001620:exon5:c.A16243G:p.T5415A	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00613340138201	0.0004	0.000599042	0.0003	0	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs11231126	0.0005	0.0005	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	0.0001	0.0007	0.0007	0	0	0.0014	0.0005	0.0004	4.637e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	9.658e-05	0	0.0007	0	0	0	0.0034	0.0008	0.0005	0	1.0	0.00964	T	0.72	0.05345	T	0.004	0.12183	B	0.019	0.18783	B	0.808425	0.06812	N	1.142370	1	0.08975	N	0.03	0.08032	N	5.6	0.00825	T	-1.21	0.30762	N	0.064	0.03613	-0.9167	0.45997	T	0.001	0.00318	T	10	0.0036427677	0.00067	T	0.006133	0.16052	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.10253187904966532	0.10183	0.0252877464739	0.02574	0.202656537294	0.00538	T	0.060196	0.31322	T	-0.609884	0.00127	T	-0.724246	0.04594	T	0.0145291981044209	0.00297	T	0.412859	0.10744	T	0.033250626	0.03505	0.031455915	0.01737	0.033250626	0.03505	0.031455915	0.01736	-1.929	0.02924	T	.	.	0.070	0.03661	B	.	.	-0.267617	0.02762	0.372	0.10202735489824774	0.00123	0.01069	0.03960	N	AEFBI	.	.	.	-2.10865655884178	0.00123	0.005244964	-2.13797415557105	0.00154	0.006768702	0.999999971553687	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	-8.1	0.00957	-0.483000	0.06616	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.096:0.4112:0.0891:0.4037	5.234	0.14755	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1751.33	34	chr11	62518174	.	T	C	1751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=1168;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.198;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62518249	62518249	G	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C16168A:p.P5390T,AHNAK:NM_001346446:exon5:c.C16168A:p.P5390T,AHNAK:NM_001620:exon5:c.C16168A:p.P5390T	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0005	0.0109824	0.0055	0.0002	0.0046	0.0472	0.0048	0.0020	0.0066	0.0019	0.0050193	776	154602	rs77640901	0.0020	0.0020	0.0021	0.0020	0.0402	0.0020	0.0019	0.0386	0.0379	0.0001	0.0035	0.0010	0.0402	0.0038	0.0009	0.0005	0.0031	0.0027	0.0027	0.0027	0.0020	0.0034	0.0460	0.0025	0.0024	0.0412	0.0393	0.0002	0	0.0010	0.0017	0.0460	0.0065	0	0.0006	0.0019	0.0058	0.233	0.18122	T	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.001357	0.39310	U	0.000000	1	0.19853	N	2.895	0.83812	M	3.41	0.05574	T	-4.3	0.76496	D	0.163	0.17140	-1.0966	0.04528	T	0.006	0.01981	T	10	0.003403753	0.00060	T	.	.	.	0.103	0.29403	.	.	0.246215685461	0.24236	0.3357515774788833	0.33488	0.195258257333	0.21862	0.310725390911	0.12016	T	0.500371	0.82100	D	-0.555638	0.00270	T	-0.535874	0.18705	T	0.0872030859347765	0.10883	T	0.725427	0.33942	T	0.07978849	0.18248	0.091882475	0.21627	0.07978849	0.18248	0.091882475	0.21626	-8.371	0.63572	D	.	.	0.165	0.36396	B	.	.	1.947550	0.24740	16.51	0.99111433079865141	0.52725	0.92868	0.56743	D	AEFBHI	.	.	.	0.461704970909637	0.64870	4.751588	0.322527646077659	0.56866	3.850701	0.99995365947816	0.48110	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	3.75	0.42236	1.816000	0.38630	.	.	0.606000	0.46413	0.981000	0.35396	1.000000	0.68203	0.916000	0.45140	0.1775:0.1856:0.6369:0.0	5.014	0.13670	217	0.91564	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.007576	0.02632	2637.33	34	chr11	62518249	.	G	T	2637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.701;DP=1209;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.108;SOR=0.615	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62519856	62519856	A	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T14561A:p.V4854D,AHNAK:NM_001346446:exon5:c.T14561A:p.V4854D,AHNAK:NM_001620:exon5:c.T14561A:p.V4854D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.174805795685	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs574242504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.567e-06	6.562e-06	1.285e-05	0	6.537e-05	0	0	.	.	0	0	6.537e-05	0	0	0	0	0	0	0	0.003	0.68238	D	0.001	0.83351	D	0.998	0.73220	D	0.964	0.71005	D	0.286433	0.14849	N	0.562098	0.999957	0.81001	D	2.095	0.58118	M	5.88	0.00632	T	-4.82	0.80851	D	0.419	0.45898	-0.8268	0.53505	T	0.012	0.04700	T	10	0.24324721	0.41535	T	0.174806	0.85108	D	0.235	0.53788	0.291	0.25241	0.176091768786	0.17195	0.3610503862045302	0.36019	0.237155302864	0.26256	0.33180052042	0.15206	T	0.596713	0.87015	D	-0.0232441	0.48391	T	-0.271165	0.47701	T	0.981940746307373	0.74202	D	0.951905	0.81545	D	0.72149	0.79244	0.71669686	0.83277	0.72149	0.79245	0.71669686	0.83278	-16.579	0.98506	D	.	.	0.672	0.71815	P	.	.	2.728537	0.35709	19.97	0.96909163622555783	0.31570	0.97577	0.75664	D	AEFBI	.	.	.	0.537611485270956	0.69330	5.341763	0.461568192911231	0.65464	4.827022	0.992794835264051	0.32971	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	2.396000	0.44122	.	.	0.677000	0.82338	0.091000	0.22601	0.997000	0.33255	0.997000	0.79791	1.0:0.0:0.0:0.0	13.639	0.61709	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2408.33	34	chr11	62519856	.	A	T	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=1277;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.18;SOR=0.738	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62520286	62520286	T	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A14131T:p.M4711L,AHNAK:NM_001346446:exon5:c.A14131T:p.M4711L,AHNAK:NM_001620:exon5:c.A14131T:p.M4711L	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0187139357774	0.0006	0.000599042	0.0006	9.614e-05	0.0003	0	0	0.0010	0.0011	0.0004	0.0006986	108	154602	rs144063659	0.0007	0.0007	0.0006	0.0007	0.0130	0.0006	0.0006	0.0106	0.0098	0.0007	0.0006	0.0081	0	0	0.0130	0.0005	0.0012	0.0003	0.0008	0.0008	0.0007	0.0008	0.0008	0.0006	0.0006	0.0005	0.0005	0.0002	0	0.0005	0.0110	0	0	0.0103	0.0007	0.0029	0.0008	0.143	0.25355	T	0.066	0.44501	T	0.067	0.23653	B	0.12	0.32230	B	0.000089	0.51296	D	0.164825	0.82533	0.81001	D	1.69	0.43327	L	5.11	0.01224	T	-2.0	0.46146	N	0.335	0.37613	-1.0097	0.27012	T	0.010	0.03765	T	10	0.0061821043	0.00139	T	0.018714	0.40862	T	0.140	0.37593	0.299	0.26522	0.0297737177859	0.01360	0.08164732033709399	0.08099	0.0674943754929	0.07548	0.469551414251	0.34618	T	0.237379	0.60506	T	-0.359742	0.04145	T	-0.372553	0.36592	T	0.0368839580526113	0.03135	T	0.818618	0.47570	T	0.31320494	0.54061	0.25820267	0.51549	0.31320494	0.54061	0.25820267	0.51548	-7.979	0.60927	D	.	.	0.342	0.56011	A	.	.	1.637962	0.20906	14.96	0.90756559973766815	0.20006	0.96680	0.70368	D	AEFBI	.	.	.	-0.0966656513080991	0.37538	2.185379	0.00276148323149442	0.39845	2.368625	0.991478506150432	0.32501	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	2.185000	0.42215	.	.	0.634000	0.51959	0.993000	0.37899	0.999000	0.35428	0.920000	0.45560	0.0:0.0:0.0:1.0	13.237	0.59402	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009514	0.000000	0.010870	0.036885	0.050000	0.017241	0.000000	0.003788	0.02632	4252.33	34	chr11	62520286	.	T	A	4252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=1455;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.161;SOR=0.786	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62523507	62523507	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A10910G:p.N3637S,AHNAK:NM_001346446:exon5:c.A10910G:p.N3637S,AHNAK:NM_001620:exon5:c.A10910G:p.N3637S	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0004	0.0109824	0.0049	0.0002	0.0002	0.0460	0.0048	0.0017	0.0066	0.0021	0.0044566	689	154602	rs117618959	0.0018	0.0018	0.0018	0.0018	0.0382	0.0017	0.0017	0.0366	0.0360	2.987e-05	0.0002	0.0010	0.0382	0.0038	0.0010	0.0004	0.0032	0.0027	0.0025	0.0025	0.0019	0.0031	0.0457	0.0023	0.0022	0.0409	0.0391	0.0001	0	0.0003	0.0017	0.0457	0.0065	0	0.0005	0.0019	0.0056	0.32	0.13566	T	0.377	0.16134	T	0.001	0.07471	B	0.001	0.04355	B	0.010690	0.29823	N	0.308720	1	0.81001	D	-0.805	0.01590	N	4.63	0.01817	T	-0.17	0.09627	N	0.044	0.01658	-0.8810	0.49681	T	0.000	0.00114	T	10	0.0018412769	0.00025	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	0.008809137951695783	0.00844	0.0231338633503	0.02342	0.250497043133	0.03820	T	0.075767	0.35257	T	-0.747711	0.00018	T	-0.811041	0.01641	T	0.00777662520234417	0.00091	T	0.660434	0.26965	T	0.023315528	0.01061	0.024059497	0.00420	0.023315528	0.01061	0.024059497	0.00420	-5.798	0.44557	T	.	.	0.055	0.00412	B	.	.	0.201218	0.05860	2.300	0.47571279763658181	0.03900	0.72455	0.35463	D	AEFBI	.	.	.	-1.15912765915773	0.05632	0.2572289	-1.07069229536115	0.08281	0.406499	0.269625343204805	0.18878	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.93	1.48	0.21900	2.662000	0.46431	.	.	-0.825000	0.02924	0.861000	0.30630	0.000000	0.08366	0.001000	0.02609	0.1454:0.0852:0.0:0.7693	5.944	0.18448	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.007576	0.02632	4512.33	34	chr11	62523507	.	T	C	4512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=1475;ExcessHet=0;FS=6.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.753;SOR=0.908	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1314	18	0	1	0
chr11	62529990	62529990	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T4427C:p.V1476A,AHNAK:NM_001346446:exon5:c.T4427C:p.V1476A,AHNAK:NM_001620:exon5:c.T4427C:p.V1476A	.	425	1092	4	1	0	6	0.00273973	.	.	.	724527	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0157485239026	.	0.00119808	0.0011	0	0	0.0076	0.0051	0.0004	0.0022	0.0001	0.000912	141	154602	rs75066541	0.0006	0.0006	0.0006	0.0006	0.0088	0.0006	0.0006	0.0081	0.0078	2.988e-05	0	0.0005	0.0088	0.0039	0.0005	0.0002	0.0008	0.0002	0.0008	0.0008	0.0006	0.0010	0.0093	0.0007	0.0007	0.0072	0.0065	2.418e-05	0	0	0.0006	0.0093	0.0052	0	0.0002	0.0009	0	0.039	0.42487	D	0.002	0.79402	D	0.38	0.34363	B	0.273	0.40007	B	.	.	.	.	1	0.81001	D	1.92	0.51302	L	3.51	0.04959	T	-2.6	0.55983	D	0.066	0.03841	-1.0412	0.16951	T	0.013	0.04985	T	9	0.0049177706	0.00105	T	0.015749	0.36654	T	0.057	0.16321	.	.	0.483301346737	0.47961	0.19304131450803544	0.19222	0.0932700552399	0.10540	0.276395559311	0.06995	T	0.531458	0.83793	D	-0.515528	0.00467	T	-0.508451	0.21474	T	0.0572727023978647	0.06732	T	0.523548	0.17131	T	0.108962126	0.25761	0.10708357	0.25773	0.108962126	0.25760	0.10708357	0.25772	-7.282	0.56067	T	.	.	0.146	0.32324	B	.	.	0.908356	0.12825	9.341	0.92647139511997989	0.22123	0.60057	0.31088	D	AEFBI	.	.	.	-0.437398034889702	0.24170	1.303158	-0.422531411630024	0.24337	1.332165	0.999999983564	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.23	4.23	0.49319	1.991000	0.40348	.	.	0.756000	0.94297	0.002000	0.15269	0.009000	0.19889	0.024000	0.12247	1.0:0.0:0.0:0.0	11.614	0.50339	263	0.89692	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3982.33	42	chr11	62529990	.	A	G	3982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1315;ExcessHet=0;FS=2.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.36;SOR=0.549	GT:AD:DP:GQ:PL	0/0:171,0:171:99:0,120,1800	18	0	1	0
chr11	62531125	62531125	C	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G3292T:p.V1098F,AHNAK:NM_001346446:exon5:c.G3292T:p.V1098F,AHNAK:NM_001620:exon5:c.G3292T:p.V1098F	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0005	0.0115815	0.0056	0.0002	0.0046	0.0478	0.0048	0.0020	0.0066	0.0020	0.0051358	794	154602	rs79639272	0.0021	0.0021	0.0021	0.0020	0.0408	0.0020	0.0020	0.0392	0.0385	0.0002	0.0036	0.0010	0.0408	0.0038	0.0009	0.0005	0.0032	0.0028	0.0028	0.0028	0.0021	0.0035	0.0475	0.0026	0.0025	0.0426	0.0407	0.0003	0	0.0010	0.0017	0.0475	0.0065	0	0.0006	0.0019	0.0066	0.035	0.43708	D	0.021	0.58089	D	0.985	0.61118	D	0.735	0.55480	P	.	.	.	.	1	0.81001	D	2.415	0.69758	M	3.26	0.06681	T	-2.23	0.50012	N	0.204	0.22614	-1.0366	0.18357	T	0.005	0.01615	T	9	0.0037706494	0.00070	T	.	.	.	0.128	0.35103	.	.	0.292423486923	0.28857	0.33009834749514383	0.32922	0.200112512736	0.22413	0.282345294952	0.07821	T	0.553383	0.84918	D	-0.555645	0.00270	T	-0.535152	0.18775	T	0.0224997319302273	0.00965	T	0.935706	0.75920	D	0.12510465	0.29336	0.16794418	0.38718	0.12510465	0.29336	0.16794418	0.38717	-8.012	0.61152	D	.	.	0.111	0.21578	B	.	.	1.418313	0.18349	13.69	0.99012981643108322	0.50399	0.61434	0.31483	D	AEFBCI	.	.	.	0.0667086396812698	0.44915	2.756941	-0.0490194908403563	0.37533	2.198863	0.999994213652053	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.689000	0.37319	.	.	-0.192000	0.09343	0.002000	0.15269	0.000000	0.08366	0.262000	0.23568	0.0:1.0:0.0:0.0	16.745	0.85329	270	0.89404	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.018293	0.007576	0.02632	2470.33	42	chr11	62531125	.	C	A	2470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.642;DP=1012;ExcessHet=0;FS=2.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.87;SOR=0.916	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr11	62576195	62576195	A	T	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon9:c.T1465A:p.W489R	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00179712	0.0091	0.0019	0.0051	0	0.0048	0.0138	0.0097	0.0026	0.0071797	1110	154602	rs118073625	0.0083	0.0083	0.0084	0.0082	0.0180	0.0082	0.0081	0.0152	0.0141	0.0012	0.0035	0.0068	0	0.0042	0.0180	0.0097	0.0084	0.0019	0.0053	0.0053	0.0059	0.0046	0.0089	0.0050	0.0049	0.0083	0.0081	0.0015	0.0011	0.0033	0.0081	0	0.0024	0.0170	0.0089	0.0085	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.005051	0.014946	0.029240	0.000000	0.008621	0.009146	0.003788	0.02632	976.33	36	chr11	62576195	.	A	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.054;DP=736;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.426;SOR=0.449	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	0	1	0
chr11	62604006	62604006	C	T	exonic	EML3	.	nonsynonymous SNV	EML3:NM_001300793:exon18:c.G2110A:p.V704M,EML3:NM_001300794:exon18:c.G2107A:p.V703M,EML3:NM_153265:exon18:c.G2107A:p.V703M	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0131611026899	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773358190	6.157e-06	6.156e-06	8.167e-06	4.125e-06	1.159e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.269	0.16091	T	0.069	0.43913	T	0.006	0.16609	B	0.008	0.14941	B	0.019396	0.27268	N	0.445552	0.998669	0.22000	N	0	0.06538	N	1.03	0.60111	T	0.78	0.02228	N	0.143	0.16308	-1.0472	0.15188	T	0.083	0.32499	T	10	0.07576215	0.11749	T	0.013161	0.32344	T	0.118	0.32913	.	.	0.44750879378	0.44372	0.09385492925778283	0.09317	0.742370381414	0.63329	0.346704572439	0.17436	T	0.018961	0.15193	T	-0.0688913	0.41504	T	-0.336734	0.40714	T	0.169677213677182	0.18558	T	0.818818	0.48627	T	0.023972297	0.01184	0.046063166	0.06338	0.023972297	0.01184	0.046063166	0.06338	-5.56	0.42425	T	.	.	0.115	0.23077	B	.;.;.;.;.	.;.;.;.;.	2.431743	0.31284	18.69	0.86818512115220792	0.16794	0.43738	0.27164	N	AEFDGBIJ	0.072782	0.14537	N	-0.506677281120073	0.21864	1.163401	-0.274620622737786	0.28937	1.617331	0.999999535825718	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	5.5	4.38	0.52019	3.752000	0.54889	.	.	-0.206000	0.08541	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1885:0.0:0.8115	6.629	0.22038	177	0.93145	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3779.33	39	chr11	62604006	.	C	T	3779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=904;ExcessHet=0;FS=7.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.248;SOR=1.111	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1318	18	0	1	0
chr11	62616672	62616672	G	C	exonic	B3GAT3	.	nonsynonymous SNV	B3GAT3:NM_001288722:exon4:c.C743G:p.P248R,B3GAT3:NM_001288723:exon4:c.C743G:p.P248R,B3GAT3:NM_012200:exon4:c.C743G:p.P248R,B3GAT3:NM_001288721:exon5:c.C722G:p.P241R	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1310045	Larsen-like_syndrome,_B3GAT3_type|not_provided	MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.627	0.0785654289707	.	.	4.967e-05	0	0	0	0	7.536e-05	0	6.06e-05	3.88e-05	6	154602	rs751979169	1.3e-05	1.3e-05	8.167e-06	1.788e-05	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.049	0.42199	D	0.003	0.83351	D	0.587	0.38961	P	0.445	0.45921	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.935	0.23595	L	-1.17	0.78199	T	-7.3	0.94484	D	0.834	0.84401	-0.2889	0.75295	T	0.493	0.80776	T	10	0.9046594	0.89830	D	0.078565	0.73033	D	0.627	0.85615	0.681	0.81885	0.973653754471	0.97337	0.7481094641902565	0.74756	0.658817819501	0.58771	0.680214285851	0.64298	T	0.291169	0.66393	T	0.0679787	0.60602	T	0.0401662	0.72938	D	0.503653824329376	0.32763	D	0.918408	0.70674	D	0.7463848	0.80659	0.71103597	0.82953	0.7463848	0.80660	0.71103597	0.82954	-6.192	0.47858	T	0.21772002889049247	0.29307	0.175	0.38245	B	.;.;.	.;.;.	4.478336	0.69849	25.4	0.99811374690896892	0.89531	0.99373	0.95182	D	AEFGBI	0.943448	0.94930	D	0.534250777963145	0.69131	5.313435	0.596656107007567	0.74698	6.18172	0.999999999994245	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.922000	0.98774	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	16.474	0.83970	198	0.92335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	972.33	76	chr11	62616672	.	G	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.187;DP=1144;ExcessHet=0;FS=11.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.331;SOR=0.68	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr11	62620554	62620554	-	GGGCAG	exonic	B3GAT3	.	nonframeshift insertion	B3GAT3:NM_001288722:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_001288723:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_012200:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_001288721:exon3:c.178_179insCTGCCC:p.A59_Q60insPA	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.097e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs752512962	2.054e-06	2.052e-06	1.362e-06	2.752e-06	8.966e-05	5.5e-07	1.5e-07	2.376e-05	1.258e-05	8.966e-05	0	0	0	0	0	0	0	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	7.246e-05	5.24e-06	2.46e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	929.29	34	chr11	62620554	.	T	TGGGCAG	929.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=701;ExcessHet=0;FS=3.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=-1.913;QD=15.49;ReadPosRankSum=0.248;SOR=1.103	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	62632636	62632636	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon6:c.C583T:p.R195C,GANAB:NM_001278192:exon7:c.C649T:p.R217C,GANAB:NM_001278194:exon8:c.C634T:p.R212C,GANAB:NM_001329222:exon9:c.C634T:p.R212C,GANAB:NM_001329223:exon9:c.C634T:p.R212C,GANAB:NM_001329224:exon9:c.C202T:p.R68C,GANAB:NM_001329225:exon9:c.C202T:p.R68C,GANAB:NM_198334:exon9:c.C925T:p.R309C,GANAB:NM_198335:exon10:c.C991T:p.R331C	Polycyctic kidney disease 3, Autosomal dominant	430	1067	25	0	0	25	0.0115794	.	.	.	724534	not_provided|Autosomal_dominant_polycystic_liver_disease|Chronic_kidney_disease	MedGen:C3661900|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.717	.	0.0095	0.0103834	0.0083	0.0150	0.0067	0.0088	0.0020	0.0078	0.0088	0.0098	0.0080271	1241	154602	rs1063445	0.0067	0.0067	0.0066	0.0068	0.0186	0.0066	0.0065	0.0157	0.0146	0.0151	0.0043	0.0070	0.0082	0.0016	0.0186	0.0064	0.0079	0.0088	0.0075	0.0076	0.0077	0.0074	0.0133	0.0072	0.0070	0.0124	0.0120	0.0133	0.0011	0.0034	0.0081	0.0060	0.0008	0.0170	0.0056	0.0161	0.0108	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.94	0.76457	D	0.000312	0.45977	D	0.158034	1	0.81001	D	2.88	0.83451	M	-3.01	0.92208	D	-5.42	0.87835	D	0.654	0.69562	0.645	0.92482	D	0.789	0.92836	D	10	0.008801788	0.00199	T	.	.	.	0.717	0.89966	.	.	0.939732145296	0.93910	0.9146277663219602	0.91437	2.38724322197	0.97073	0.721068382263	0.70203	T	0.702843	0.91459	D	0.074549	0.61396	D	0.346632	0.90183	D	0.0281658785744699	0.01712	T	0.978677	0.92705	D	0.4566357	0.64461	0.35273233	0.60846	0.4085814	0.61323	0.35273233	0.60845	-7.504	0.57638	D	0.6457925916148197	0.71718	0.231	0.46424	B	.;.;.;.;.	.;.;.;.;.	5.172422	0.86702	29.0	0.99940139942126072	0.99767	0.94032	0.59908	D	AEFGBIJ	0.703360	0.65943	D	0.706471479556146	0.80056	7.210595	0.650084857993844	0.78616	6.912401	0.983753630049269	0.30609	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	1.966000	0.40105	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	16.255	0.82330	250	0.90192	.;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.018127	0.005051	0.019022	0.035088	0.000000	0.008621	0.009146	0.015152	0.02632	1813.33	35	chr11	62632636	.	G	A	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.219;DP=818;ExcessHet=0;FS=4.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.712;SOR=1.047	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr11	62632644	62632644	T	C	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon6:c.A575G:p.N192S,GANAB:NM_001278192:exon7:c.A641G:p.N214S,GANAB:NM_001278194:exon8:c.A626G:p.N209S,GANAB:NM_001329222:exon9:c.A626G:p.N209S,GANAB:NM_001329223:exon9:c.A626G:p.N209S,GANAB:NM_001329224:exon9:c.A194G:p.N65S,GANAB:NM_001329225:exon9:c.A194G:p.N65S,GANAB:NM_198334:exon9:c.A917G:p.N306S,GANAB:NM_198335:exon10:c.A983G:p.N328S	Polycyctic kidney disease 3, Autosomal dominant	432	1080	10	0	0	10	0.00460829	.	.	.	724535	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0028	.	0.0049	0.0011	0.0004	0	0.0101	0.0070	0.0011	0.0021	0.004573	707	154602	rs138726440	0.0044	0.0044	0.0045	0.0043	0.0046	0.0043	0.0043	0.0045	0.0045	0.0006	0.0007	0.0111	0	0.0098	0.0035	0.0046	0.0040	0.0017	0.0035	0.0035	0.0037	0.0033	0.0052	0.0033	0.0032	0.0048	0.0046	0.0007	0	0.0010	0.0110	0	0.0077	0.0034	0.0052	0.0028	0.0012	0.541	0.06957	T	0.809	0.07468	T	0.0	0.02946	B	0.001	0.04355	B	0.000649	0.42656	N	0.261565	0.999828	0.20203	N	0.11	0.08516	N	-2.01	0.85468	D	-1.12	0.28906	N	0.033	0.01911	-0.8736	0.50257	T	0.265	0.63588	T	10	0.0070911944	0.00161	T	.	.	.	0.212	0.50341	.	.	0.340432005269	0.33650	0.49544786061884327	0.49465	0.767965699156	0.64618	0.273152649403	0.06556	T	0.252279	0.62264	T	-0.533372	0.00367	T	-0.529534	0.19333	T	0.000141800669837077	0.00001	T	0.865513	0.57326	D	0.02692425	0.01812	0.030786233	0.01578	0.026322605	0.01675	0.030878738	0.01601	-2.649	0.06885	T	.	.	0.05	0.00291	B	.;.;.;.;.	.;.;.;.;.	1.570670	0.20107	14.59	0.78824133089307502	0.12468	0.34533	0.25090	N	AEFGBIJ	0.149852	0.27402	N	-0.805600821430263	0.13167	0.6467562	-0.674514824745221	0.17598	0.9365269	0.161352583486665	0.17598	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.19	-1.25	0.08920	1.003000	0.29410	.	.	0.665000	0.62972	0.641000	0.28093	0.019000	0.20708	0.998000	0.85391	0.0:0.6261:0.0:0.3739	11.021	0.46932	250	0.90192	.;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1648.33	35	chr11	62632644	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.375;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.56;SOR=0.698	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr11	62633464	62633464	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon3:c.C269T:p.T90I,GANAB:NM_001278192:exon4:c.C335T:p.T112I,GANAB:NM_001278194:exon5:c.C320T:p.T107I,GANAB:NM_001329222:exon6:c.C320T:p.T107I,GANAB:NM_001329223:exon6:c.C320T:p.T107I,GANAB:NM_198334:exon6:c.C611T:p.T204I,GANAB:NM_198335:exon7:c.C677T:p.T226I	Polycyctic kidney disease 3, Autosomal dominant	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0534384582199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.61437	T	0.18	0.31527	T	0.001	0.07471	B	0.004	0.10090	B	0.000003	0.00162	N	4.924200	1	0.08975	N	0	0.06538	N	-2.33	0.88377	D	-0.58	0.21644	N	0.192	0.25989	-0.6614	0.62215	T	0.400	0.75173	T	10	0.036925614	0.02017	T	0.053438	0.65467	D	0.212	0.50341	0.193	0.10437	0.21174354426	0.20776	0.2829960113851201	0.28212	0.162032793029	0.18279	0.335528731346	0.15767	T	0.075858	0.35279	T	-0.116396	0.33715	T	-0.404971	0.32807	T	0.0638411209296549	0.07759	T	0.60384	0.27348	T	0.020763068	0.00647	0.030646324	0.01546	0.020763068	0.00647	0.030646324	0.01546	-5.561	0.43915	T	.	.	0.082	0.20663	B	.;.;.;.;.;.	.;.;.;.;.;.	1.163659	0.15528	11.92	0.8549554014697256	0.15928	0.06708	0.12729	N	AEFGBI	0.057425	0.10696	N	-1.18258218540997	0.05263	0.2395174	-1.14813861963628	0.06802	0.3286303	0.158506116872765	0.17555	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	1.11	0.19640	-0.021000	0.12445	.	.	-0.106000	0.15538	0.000000	0.06391	0.122000	0.22912	0.481000	0.28588	0.1947:0.1636:0.4731:0.1686	1.535	0.02390	250	0.90192	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	657.33	34	chr11	62633464	.	G	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.032;DP=695;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.56;SOR=0.386	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1407	18	0	1	0
chr11	62690476	62690476	A	G	exonic	BSCL2	.	nonsynonymous SNV	BSCL2:NM_001122955:exon11:c.T1280C:p.L427P,BSCL2:NM_032667:exon11:c.T1088C:p.L363P	Encephalopathy, progressive, with or without lipodystrophy, Autosomal recessive;Lipodystrophy, congenital generalized, type 2, Autosomal recessive;Neuropathy, distal hereditary motor, type VA, Autosomal dominant;Silver spastic paraplegia syndrome, Autosomal dominant	1	1499	21	1	0	23	0.00761337	.	.	.	133981	Charcot-Marie-Tooth_disease_type_2|Congenital_generalized_lipodystrophy_type_2|Neuronopathy,_distal_hereditary_motor,_type_5A|Monogenic_diabetes|not_specified|Hereditary_spastic_paraplegia_17|Neuronopathy,_distal_hereditary_motor,_type_5C|Severe_neurodegenerative_syndrome_with_lipodystrophy|Inborn_genetic_diseases|not_provided|Hereditary_spastic_paraplegia	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0010020,MedGen:C1720863,OMIM:269700,Orphanet:528|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MONDO:MONDO:0010043,MedGen:C2931276,OMIM:270685,Orphanet:100998|MONDO:MONDO:0030860,MedGen:C5436838,OMIM:619112|MONDO:MONDO:0014402,MedGen:C4014700,OMIM:615924,Orphanet:363400|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.257	0.0824792108038	0.0026	0.000798722	0.0039	0.0003	0.0036	0	0.0014	0.0060	0.0022	0.0013	0.0036934	571	154602	rs145649423	0.0030	0.0030	0.0029	0.0031	0.0094	0.0029	0.0028	0.0074	0.0067	0.0005	0.0037	0.0060	0	0.0013	0.0094	0.0031	0.0033	0.0019	0.0030	0.0030	0.0032	0.0027	0.0045	0.0027	0.0027	0.0041	0.0040	0.0006	0.0011	0.0043	0.0078	0	0.0007	0.0170	0.0045	0.0043	0.0006	0.092	0.31682	T	0.091	0.42086	T	0.001	0.07471	B	0.002	0.06944	B	0.780725	0.09473	N	0.816770	0.997674	0.81001	D	2.095	0.58118	M	-2.89	0.91643	D	-5.21	0.83763	D	0.304	0.34767	-0.4494	0.70420	T	0.561	0.84003	D	10	0.006423205	0.00145	T	0.082479	0.73910	D	0.257	0.56827	.	.	0.844229198692	0.84273	0.24859598106681063	0.24773	.	.	0.541142106056	0.44606	T	0.152887	0.49348	T	-0.278744	0.10801	T	-0.172082	0.57253	T	0.0417579805946623	0.04011	T	0.587441	0.21491	T	0.07683957	0.17404	0.13074574	0.31409	0.11761312	0.27725	0.17274931	0.39551	-2.41	0.05263	T	.	.	0.257	0.49137	B	.;.;.;.;.;.	.;.;.;.;.;.	2.485756	0.32060	18.93	0.94628039898708471	0.25212	0.65429	0.32735	D	AEFDGBI	0.339319	0.43650	N	-0.620712175288854	0.18322	0.9503485	-0.533491989807744	0.21246	1.148425	0.999986102997834	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	0.276	0.14916	1.399000	0.34175	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.5856:0.0:0.4144:0.0	7.493	0.26640	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.000000	0.008152	0.002941	0.000000	0.000000	0.018293	0.000000	0.02632	843.33	33	chr11	62690476	.	A	G	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=712;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-2.243;SOR=0.918	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr11	62775854	62775854	C	T	exonic	TAF6L	.	nonsynonymous SNV	TAF6L:NM_006473:exon2:c.C71T:p.T24M	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0067	0.00259585	0.0085	0.0018	0.0009	0.0001	0.0256	0.0109	0.0067	0.0061	0.0083246	1287	154602	rs76769410	0.0093	0.0093	0.0093	0.0092	0.0101	0.0092	0.0091	0.0100	0.0099	0.0013	0.0005	0.0036	0.0001	0.0241	0.0028	0.0101	0.0065	0.0053	0.0075	0.0075	0.0065	0.0085	0.0104	0.0071	0.0070	0.0097	0.0095	0.0019	0	0.0009	0.0017	0	0.0281	0.0034	0.0104	0.0047	0.0054	0.022	0.48642	D	0.092	0.53426	T	0.065	0.23521	B	0.017	0.18140	B	0.001303	0.39449	N	0.211038	0.54244	0.32065	D	-0.255	0.03828	N	0.98	0.42122	T	0.76	0.33798	N	0.336	0.37717	-1.0945	0.04824	T	0.037	0.16073	T	10	0.010244608	0.00229	T	.	.	.	0.022	0.04323	.	.	0.165150595986	0.16160	0.19382726875795983	0.19300	0.733917181997	0.62870	0.656135320663	0.60857	T	0.036	0.24012	T	-0.493995	0.00618	T	-0.47069	0.25441	T	0.018789644567081	0.00591	T	0.816518	0.47811	T	0.030123295	0.02623	0.061857447	0.12010	0.030123295	0.02623	0.061857447	0.12010	-9.335	0.69827	D	.	.	0.122	0.25364	B	.;.;.	.;.;.	3.001778	0.40112	21.1	0.92074278723939496	0.21421	0.91142	0.52942	D	AEFBI	0.267678	0.38433	N	-0.282320487968589	0.29831	1.657827	-0.0950036091026644	0.35597	2.06131	0.539633930168457	0.21242	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.86	0.43689	3.428000	0.52560	.	.	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.871000	0.41478	0.0:0.8078:0.0:0.1922	7.437	0.26336	524	0.74079	TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF);TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF);TATA box binding protein associated factor (TAF)|TATA box binding protein associated factor (TAF)	.	.	.	.	rs76769410	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	2587.33	33	chr11	62775854	.	C	T	2587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.34;DP=850;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.108;SOR=0.567	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1183	18	0	1	0
chr11	62791933	62791933	G	A	exonic	TMEM223	.	nonsynonymous SNV	TMEM223:NM_001080501:exon1:c.C62T:p.T21I	.	411	1101	9	0	1	10	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0205811171077	0.0008	0.00119808	0.0015	0.0002	0.0022	0	0	0.0022	0.0057	0.0005	0.0009185	142	154602	rs201573295	0.0009	0.0009	0.0009	0.0009	0.0170	0.0009	0.0008	0.0142	0.0131	0.0013	0.0016	0.0081	0	7.816e-05	0.0170	0.0007	0.0016	0.0007	0.0009	0.0009	0.0008	0.0010	0.0010	0.0008	0.0008	0.0008	0.0007	0.0003	0	0.0010	0.0104	0	0	0.0034	0.0010	0.0019	0.0008	0.482	0.08891	T	0.41	0.14633	T	0.085	0.24868	B	0.022	0.19653	B	0.073828	0.02280	N	2.027670	1	0.08975	N	0.55	0.14455	N	0.97	0.42502	T	-1.41	0.34795	N	0.221	0.25745	-1.0740	0.08556	T	0.052	0.22192	T	9	0.0054481626	0.00120	T	0.020581	0.43203	T	0.018	0.03083	.	.	0.0138822411134	0.00435	.	.	0.0258765225282	0.02640	0.625331044197	0.56483	T	0.029284	0.21018	T	-0.57373	0.00210	T	-0.621528	0.11066	T	0.000439379622085349	0.00004	T	0.324967	0.06659	T	0.025714694	0.01542	0.030363865	0.01484	0.025714694	0.01542	0.030363865	0.01483	-6.252	0.48341	T	.	.	0.125	0.26357	B	.;.	.;.	-0.549305	0.01715	0.126	0.73920160660950995	0.10504	0.05500	0.11387	N	ALL	0.072694	0.14517	N	-1.2040821369426	0.04940	0.2240497	-1.29970926051756	0.04435	0.2091864	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.94	-7.35	0.01275	-0.480000	0.06639	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3837:0.32:0.1988:0.0975	2.675	0.04763	754	0.51307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016211	0.010309	0.021858	0.032353	0.050000	0.017241	0.003086	0.003788	0.02632	1180.33	34	chr11	62791933	.	G	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.476;DP=700;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1014:.	18	0	1	0
chr11	62870838	62870838	-	TAATAA	splicing	SLC3A2	NM_002394:exon2:c.205+1->TAATAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1026	0.0714	0.1042	0.0778	.	0.1722	0.0690	0.0830	0.0001153	3	26028	rs770752670	0.0214	0.0077	0.0272	0.0190	0.0251	0.0203	0.0198	0.0192	0.0181	0.0050	0.0251	0.0487	0.0030	0.0409	0.0175	0.0197	0.0169	0.0220	0.0069	0.0082	0.0071	0.0066	0.0117	0.0065	0.0063	0.0101	0.0095	0.0022	0.0013	0.0117	0.0353	0.0018	0.0008	0.0120	0.0082	0.0108	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	721.18	1	chr11	62870838	.	G	GTAATAA	721.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.5;DP=82;ExcessHet=0.0004;FS=3.362;InbreedingCoeff=0.4716;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=-0.967;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.,.:.:.:.:.:.:.	12	1	1	5
chr11	63083278	63083278	C	G	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon7:c.G1250C:p.G417A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.2444862716	.	.	4.289e-05	0	0	0	0	9.025e-05	0	0	6.5e-06	1	154602	rs760260670	3.55e-06	4.104e-06	1.403e-06	5.752e-06	2.718e-05	1.04e-06	7.6e-07	8.6e-07	5.8e-07	0	2.718e-05	0	0	0	0	3.693e-06	0	0	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.108	0.29420	T	0.053	0.47336	T	0.968	0.56581	D	0.699	0.54128	P	.	.	.	.	0.99999	0.08975	N	.	.	.	-0.95	0.75438	T	-4.56	0.78636	D	0.346	0.38746	-0.2157	0.77266	T	0.420	0.76563	T	9	0.6990355	0.72326	D	0.244486	0.88846	D	0.490	0.77720	0.666	0.80401	0.592368907089	0.58914	0.4771885155191158	0.47638	0.0339211128557	0.03557	0.458521395922	0.33107	T	.	.	.	-0.236244	0.15832	T	-0.459673	0.26634	T	0.424113269127816	0.29842	T	0.654634	0.26482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44986	B	.;.	.;.	0.601896	0.09706	6.473	0.98977561802084046	0.49660	0.41790	0.26735	N	AEFBI	0.027397	0.02231	N	0.0685280370397548	0.44998	2.763917	-0.0984774532141462	0.35455	2.051347	1.6899818567179E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.8	2.82	0.32061	1.391000	0.34083	-3.363000	0.02844	-0.229000	0.07765	0.073000	0.22155	0.000000	0.08366	0.001000	0.02609	0.1937:0.8063:0.0:0.0	10.501	0.43991	809	0.43032	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1100.33	37	chr11	63083278	.	C	G	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=905;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.892;SOR=0.762	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	63096091	63096091	T	C	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_001136506:exon6:c.A970G:p.M324V	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0134158875417	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923395793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.029	0.54541	D	0.99	0.63424	D	0.92	0.65550	D	.	.	.	.	1	0.08975	N	.	.	.	-0.82	0.74053	T	-3.55	0.68764	D	0.262	0.29659	-0.8140	0.54306	T	0.282	0.65409	T	9	0.24402997	0.41627	T	0.013416	0.32810	T	0.273	0.58883	0.593	0.72247	0.353761421236	0.34979	0.23753682133622386	0.23668	0.00728219743574	0.00638	0.692230224609	0.66026	T	.	.	.	-0.130378	0.31434	T	-0.409569	0.32275	T	0.281939849660249	0.24253	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.33203	B	.;.	.;.	1.472571	0.18966	14.02	0.93439690913978179	0.23217	0.05823	0.11763	N	AEFI	0.033763	0.04065	N	-0.370050883776203	0.26541	1.449349	-0.504671998202005	0.22025	1.194332	4.90127614313443E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.68	2.49	0.29274	1.305000	0.33098	-0.697000	0.07812	0.590000	0.31872	0.220000	0.24536	0.000000	0.08366	0.025000	0.12405	0.0:0.0:0.2328:0.7672	7.037	0.24177	809	0.43032	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	652.33	42	chr11	63096091	.	T	C	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=1.26;SOR=0.629	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr11	63164619	63164619	C	T	exonic	SLC22A25	.	nonsynonymous SNV	SLC22A25:NM_199352:exon8:c.G1301A:p.R434H	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00530726100459	0.0009	0.000998403	0.0014	0.0008	0.0004	0.0001	0.0006	0.0021	0.0022	0.0003	0.0012548	194	154602	rs148517822	0.0012	0.0013	0.0012	0.0012	0.0016	0.0012	0.0012	0.0013	0.0013	0.0010	0.0004	0.0023	0.0001	0.0007	0.0016	0.0014	0.0013	0.0002	0.0009	0.0009	0.0010	0.0008	0.0013	0.0008	0.0007	0.0011	0.0010	0.0007	0	6.542e-05	0.0023	0	0.0005	0	0.0013	0.0019	0.0008	0.055	0.38407	T	0.013	0.63109	D	0.786	0.44460	P	0.381	0.43873	B	0.000000	0.84330	D	0.000000	0.996312	0.23052	N	2.71	0.79292	M	0.4	0.57261	T	-3.4	0.67014	D	0.161	0.16864	-0.7611	0.57345	T	0.212	0.57227	T	10	0.028595984	0.00991	T	0.005307	0.13587	T	0.187	0.46274	.	.	0.274366138417	0.27033	0.3675374385539885	0.36667	0.0308348949354	0.03189	0.253247618675	0.04117	T	0.317441	0.68889	T	-0.446903	0.01178	T	-0.439349	0.28881	T	0.0401520727896115	0.03718	T	0.713029	0.32487	T	0.46129605	0.64751	0.28108048	0.54087	0.46129605	0.64752	0.28108048	0.54086	-6.82	0.52708	T	.	.	0.107	0.19919	B	.	.	1.322529	0.17269	13.06	0.99293439524960914	0.58362	0.05981	0.11942	N	AEFBI	0.032328	0.03627	N	-0.218316214410544	0.32383	1.825641	-0.405893215812901	0.24824	1.361554	2.82911852935399E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.56	3.61	0.40494	0.536000	0.22838	-0.838000	0.07228	0.455000	0.21489	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.8784:0.0:0.1216	8.196	0.30558	819	0.41190	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	915.33	34	chr11	63164619	.	C	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=713;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.15;SOR=0.499	GT:AD:DP:GQ:PL	0/1:42,39:81:99:929,0,1031	18	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	128.4	88	chr11	63290238	.	C	T	128.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.449;DP=1721;ExcessHet=0.119;FS=111.978;InbreedingCoeff=-0.223;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.727;SOR=9.301	GT:AD:DP:GQ:PL	./.:81,0:81:0:0,0,1664	8	0	2	9
chr11	63290374	63290374	A	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.A209T:p.D70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.022262148399	.	.	2.477e-05	0	8.717e-05	0	0	0	0.0011	6.065e-05	1.94e-05	3	154602	rs75844061	9.579e-06	9.577e-06	2.723e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	9.793e-05	7.84e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.987	0.61912	D	0.795	0.57940	P	0.535371	0.11593	U	0.712094	1	0.18198	N	3.35	0.91085	M	1.22	0.68474	T	-8.29	0.96961	D	0.401	0.58543	-0.6218	0.63914	T	0.421	0.76630	T	10	0.43139446	0.57514	T	0.022262	0.45130	T	0.160	0.41473	0.581	0.70733	0.533567079455	0.53006	0.5757976190046665	0.57508	0.0805659542644	0.09068	0.418315649033	0.27606	T	0.03203	0.22308	T	-0.134669	0.30744	T	-0.22762	0.52001	T	0.559951167276869	0.34853	D	0.944805	0.85148	D	0.5577485	0.70385	0.41507375	0.65632	0.5577485	0.70386	0.41507375	0.65632	-10.009	0.73966	D	.	.	0.147	0.36633	B	.;.	.;.	2.438722	0.31384	18.73	0.97710931736628392	0.35495	0.08138	0.14103	N	AEFBCI	0.207733	0.33388	N	-0.0813972034827392	0.38209	2.234348	-0.350105473922973	0.26505	1.464484	0.780996786943291	0.23842	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	1.6	0.22686	1.562000	0.35961	3.381000	0.38003	0.518000	0.23583	0.052000	0.21487	0.463000	0.25012	0.129000	0.19529	0.7773:0.2227:0.0:0.0	7.248	0.25310	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2631.33	97	chr11	63290374	.	A	T	2631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=1658;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.31;SOR=0.547	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr11	63466306	63466306	C	T	exonic	PLAAT5	.	nonsynonymous SNV	PLAAT5:NM_001146728:exon5:c.G551A:p.R184H,PLAAT5:NM_001146729:exon5:c.G521A:p.R174H,PLAAT5:NM_054108:exon5:c.G551A:p.R184H	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00239617	0.0011	0	0.0002	0.0001	0	2.998e-05	0	0.0075	0.0009056	140	154602	rs200627293	0.0004	0.0004	0.0003	0.0006	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	4.472e-05	0	0	0	0.0007	1.079e-05	0.0004	0.0069	0.0002	0.0002	3.855e-05	0.0004	0.0064	0.0002	0.0001	0.0047	0.0040	2.407e-05	0	0	0	0.0002	0	0	0	0	0.0064	0.127	0.27080	T	0.145	0.33000	T	0.029	0.19866	B	0.013	0.16460	B	0.013633	0.28781	N	0.364170	1	0.08975	N	1.14	0.29013	L	1.96	0.22270	T	-1.36	0.37759	N	0.145	0.21056	-1.0317	0.19905	T	0.032	0.13548	T	10	0.0107985735	0.00239	T	.	.	.	0.021	0.04004	0.591	0.71999	0.233150807113	0.22925	0.5179243096022697	0.51715	0.259433600952	0.28498	0.28881508112	0.08750	T	0.005739	0.05188	T	-0.571016	0.00218	T	-0.589276	0.13728	T	0.0369290417692184	0.03144	T	0.262774	0.05813	T	0.050725106	0.09208	0.049272817	0.07496	0.050725106	0.09207	0.049272817	0.07496	-6.153	0.50540	T	.	.	0.094	0.24967	B	.;.;.	.;.;.	2.584937	0.33519	19.36	0.98416020714354513	0.41234	0.04346	0.09911	N	AEFBI	0.084744	0.17177	N	-0.756824713002467	0.14448	0.7198043	-0.752946222679459	0.15651	0.8241465	1.82663893289753E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.16	1.28	0.20656	-0.151000	0.10160	0.030000	0.13718	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.966000	0.53164	0.0:0.6736:0.0:0.3264	5.998	0.18732	459	0.78817	.;.;LRAT-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1483.33	34	chr11	63466306	.	C	T	1483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=742;ExcessHet=0;FS=5.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.198;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr11	63466307	63466307	G	A	exonic	PLAAT5	.	nonsynonymous SNV	PLAAT5:NM_001146728:exon5:c.C550T:p.R184C,PLAAT5:NM_001146729:exon5:c.C520T:p.R174C,PLAAT5:NM_054108:exon5:c.C550T:p.R184C	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00589940228046	0.0025	0.000798722	0.0025	0.0009	0.0005	0	0.0005	0.0041	0	0.0009	0.0025873	400	154602	rs148718280	0.0030	0.0030	0.0030	0.0029	0.0032	0.0029	0.0029	0.0031	0.0031	0.0012	0.0011	0.0150	0	0.0007	0.0026	0.0032	0.0031	0.0008	0.0026	0.0026	0.0029	0.0022	0.0039	0.0024	0.0023	0.0035	0.0033	0.0006	0	0.0020	0.0170	0	0.0002	0.0034	0.0039	0.0028	0.0008	0.012	0.54683	D	0.018	0.61642	D	0.999	0.77913	D	0.892	0.63276	P	0.013633	0.28781	N	0.364170	1	0.08975	N	1.63	0.41750	L	2.0	0.21473	T	-2.63	0.61284	D	0.261	0.29544	-1.1104	0.03036	T	0.079	0.31526	T	10	0.012708604	0.00272	T	0.005899	0.15371	T	0.116	0.32463	.	.	0.364141725642	0.36032	0.6964471254383975	0.69585	0.278558837383	0.30337	0.327961057425	0.14627	T	0.004714	0.04123	T	-0.451193	0.01112	T	-0.418549	0.31241	T	0.0226557599521222	0.00983	T	0.313969	0.08235	T	0.14427647	0.33124	0.11109171	0.26794	0.14427647	0.33124	0.11109171	0.26794	-7.397	0.56883	T	.	.	0.147	0.37063	B	.;.;.	.;.;.	3.038420	0.40726	21.2	0.99879977067345582	0.95653	0.09501	0.15243	N	AEFBI	0.122798	0.23811	N	0.0713162377658486	0.45128	2.774597	-0.0570064725851936	0.37188	2.174076	6.38553037757717E-5	0.04366	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.16	3.25	0.36363	1.654000	0.36950	4.907000	0.45915	0.676000	0.76740	0.009000	0.18154	0.952000	0.29052	0.969000	0.54022	0.1073:0.0:0.8927:0.0	8.280	0.31056	459	0.78817	.;.;LRAT-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2427.33	34	chr11	63466307	.	G	A	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.74;DP=804;ExcessHet=0;FS=3.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.132;SOR=0.959	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr11	63544756	63544756	A	-	exonic	PLAAT4	.	frameshift deletion	PLAAT4:NM_004585:exon3:c.254delA:p.Q85Hfs*7	.	431	1085	6	0	0	6	0.00275735	.	.	.	784043	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0003	0	8.639e-05	0.0028	0	8.99e-05	0.0011	0.0001	0.0001921	5	26028	rs200082177	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0001	0.0020	0.0019	0	0	3.826e-05	0.0024	5.616e-05	0.0007	8.183e-05	0.0003	0.0004	0.0002	0.0002	0.0001	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	0	0	6.538e-05	0	0.0043	0	0	7.35e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1723.29	37	chr11	63544755	.	CA	C	1723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-2.117;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr11	63671320	63671320	G	A	exonic	ATL3	.	stopgain	ATL3:NM_015459:exon1:c.C16T:p.R6X	Neuropathy, hereditary sensory, type IF, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	570760	Neuropathy,_hereditary_sensory,_type_1F	MONDO:MONDO:0014286,MedGen:C3810194,OMIM:615632,Orphanet:36386	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455374554	1.393e-06	5.472e-06	1.385e-06	1.401e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.192e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008525	0.30795	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.192639	0.99626	45	0.99804303617409595	0.88906	0.63353	0.32063	D	ALL	0.146007	0.26935	N	0.571614177862952	0.71407	5.646242	0.381830761315186	0.60444	4.232161	0.999999999996199	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.23	2.11	0.26299	2.794000	0.47545	7.899000	0.73451	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.4054:0.5946:0.0	9.958	0.40848	431	0.80762	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1096.33	34	chr11	63671320	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=677;ExcessHet=0;FS=2.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.139;SOR=0.443	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1054	18	0	1	0
chr11	64000281	64000281	T	C	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon5:c.A610G:p.S204G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0337110212741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.325434	0.14201	U	0.600535	0.99722	0.81001	N	-2.225	0.00116	N	2.05	0.20664	T	4.38	0.00040	N	0.118	0.10769	-0.9583	0.39497	T	0.006	0.02131	T	10	0.019934714	0.00452	T	0.033711	0.55171	D	0.102	0.29158	0.35	0.34760	0.0401082797425	0.02173	0.2711121457136292	0.27024	0.234622177888	0.26005	0.545179247856	0.45177	T	0.029991	0.21364	T	-0.304989	0.08197	T	-0.675872	0.07237	T	0.0703713595867157	0.08703	T	0.957704	0.84069	D	0.19299333	0.40990	0.088470854	0.20630	0.19299333	0.40990	0.088470854	0.20629	1.542	0.00079	T	.	.	0.074	0.04889	B	.	.	2.141140	0.27267	17.40	0.81274957222145294	0.13605	0.17710	0.19954	N	AEFDBHCIJ	0.141030	0.26309	N	-1.1513629843685	0.05757	0.2633108	-0.887482447845984	0.12390	0.6370458	0.999999970070332	0.74766	0.789315	0.99827	0	0.779548	0.99637	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	3.85	2.67	0.30756	0.851000	0.27403	4.789000	0.44887	0.580000	0.29708	0.098000	0.22752	1.000000	0.68203	0.954000	0.50415	0.0:0.1137:0.218:0.6683	3.977	0.08971	371	0.84287	Macro domain|Macro domain|Macro domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	310.33	34	chr11	64000281	.	T	C	310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=0.07;SOR=0.597	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1099	18	0	1	0
chr11	64165807	64165807	G	A	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon1:c.C188T:p.A63V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0688907682075	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262805816	7.496e-07	1.437e-05	0	1.519e-06	9.502e-07	0	0	.	.	0	0	0	0	0	0	9.502e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.011	0.64786	D	0.509	0.37289	P	0.051	0.25434	B	0.345533	0.13896	N	0.586825	0.983264	0.24898	N	1.7	0.43825	L	2.06	0.20523	T	-0.45	0.14782	N	0.165	0.17416	-1.0479	0.14988	T	0.032	0.13898	T	10	0.08661398	0.14738	T	0.068891	0.70578	D	0.037	0.09474	0.222	0.14518	0.0806252709748	0.07271	0.25037880673049945	0.24951	1.78550268228	0.91441	0.79512822628	0.81222	T	0.05386	0.29560	T	-0.260935	0.12791	T	-0.612592	0.11776	T	0.327791333198547	0.26136	T	0.49935	0.15589	T	0.08335655	0.19245	0.0783419	0.17538	0.08335655	0.19245	0.0783419	0.17538	-4.131	0.25745	T	.	.	0.127	0.26855	B	.	.	2.168071	0.27628	17.53	0.99515679960599313	0.68919	0.52871	0.29235	D	AEFDBHCI	0.118689	0.23198	N	-0.332474493464203	0.27920	1.535824	-0.317785393317078	0.27525	1.527899	0.999999999994856	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.96	2.0	0.25495	1.193000	0.31771	1.098000	0.24042	0.509000	0.23192	0.028000	0.20300	0.084000	0.22431	0.638000	0.32368	0.0:0.2602:0.7398:0.0	7.765	0.28141	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	34	chr11	64165807	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=663;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.241;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,952	18	0	1	0
chr11	64207420	64207420	G	A	exonic	FERMT3	.	nonsynonymous SNV	FERMT3:NM_001382361:exon2:c.G56A:p.R19Q,FERMT3:NM_001382362:exon2:c.G56A:p.R19Q,FERMT3:NM_031471:exon2:c.G56A:p.R19Q,FERMT3:NM_178443:exon2:c.G56A:p.R19Q,FERMT3:NM_001382448:exon3:c.G56A:p.R19Q	Leukocyte adhesion deficiency, type III, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	565944	Leukocyte_adhesion_deficiency_3|Inborn_genetic_diseases	MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00685528355893	0.0006	.	0.0001	0.0014	0	0.0001	0	3.007e-05	0	6.057e-05	0.0001229	19	154602	rs150500299	5.609e-05	5.609e-05	5.037e-05	6.188e-05	0.0010	4.61e-05	4.236e-05	0.0007	0.0007	0.0010	8.945e-05	0	0.0001	1.872e-05	0	2.158e-05	0.0001	8.115e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0002	0	0	0	0	1.47e-05	0	0.0002	0.537	0.06869	T	0.595	0.08079	T	0.0	0.12996	B	0.001	0.04355	B	0.470303	0.12286	N	0.735454	0.995411	0.23296	N	1.445	0.36358	L	0.91	0.44856	T	-0.07	0.11913	N	0.3	0.33904	-1.0283	0.21005	T	0.052	0.22192	T	10	0.017477065	0.00373	T	0.006855	0.18121	T	0.025	0.05312	.	.	0.334659703779	0.33074	0.21884578184814057	0.21800	0.431909252682	0.43380	0.605880439281	0.53734	T	0.015196	0.43008	T	-0.579085	0.00195	T	-0.63997	0.09670	T	0.0186253928711827	0.00576	T	0.165683	0.03106	T	0.1482509	0.33854	0.06087755	0.11664	0.1482509	0.33853	0.06087755	0.11664	-6.082	0.46960	T	0.0919056872459454	0.05881	0.070	0.03336	B	.;.;.	.;.;.	2.586864	0.33551	19.37	0.99578991826829277	0.72861	0.28970	0.23697	N	ALL	0.097416	0.19649	N	-0.663277983981279	0.17074	0.8755355	-0.54375564833644	0.20971	1.132331	0.999999999998507	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.600373	0.31884	2	0.56214	0.19341	0	.	.	4.48	2.6	0.30173	0.371000	0.20182	1.007000	0.23304	-0.123000	0.13640	0.002000	0.15269	0.342000	0.24428	0.689000	0.33808	0.3722:0.0:0.6278:0.0	5.198	0.14573	600	0.68026	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	34	chr11	64207420	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=750;ExcessHet=0;FS=4.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.437;SOR=0.88	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr11	64219750	64219750	C	G	exonic	FERMT3	.	nonsynonymous SNV	FERMT3:NM_001382363:exon8:c.C500G:p.T167S,FERMT3:NM_001382364:exon8:c.C500G:p.T167S,FERMT3:NM_001382361:exon9:c.C1040G:p.T347S,FERMT3:NM_001382362:exon9:c.C1040G:p.T347S,FERMT3:NM_031471:exon9:c.C1040G:p.T347S,FERMT3:NM_178443:exon9:c.C1040G:p.T347S,FERMT3:NM_001382448:exon10:c.C1040G:p.T347S	Leukocyte adhesion deficiency, type III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0390451979734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.017	0.60337	D	0.047	0.21998	B	0.154	0.34351	B	0.001184	0.39899	N	0.204050	0.997383	0.43845	D	1.73	0.44655	L	0.73	0.50721	T	-2.92	0.61129	D	0.299	0.35514	-0.8867	0.49215	T	0.145	0.46805	T	10	0.20401114	0.36577	T	0.039045	0.58582	D	0.097	0.27909	0.599	0.72984	0.477762074677	0.47404	0.3474227908361918	0.34656	1.06175170553	0.76505	0.60853600502	0.54108	T	0.772185	0.93911	D	-0.105914	0.35445	T	-0.389915	0.34562	T	0.9439297914505	0.61957	D	0.675332	0.28377	T	0.2995528	0.52865	0.19008537	0.42392	0.2995528	0.52865	0.19008537	0.42391	-2.01	0.05891	T	0.23109210882337786	0.31271	0.261	0.49596	B	.;.	.;.	3.869018	0.56156	23.7	0.98449055046877743	0.41598	0.96505	0.69474	D	AEFGBHCI	0.498384	0.53251	N	-0.195486798289782	0.33322	1.889151	-0.161873604216043	0.32953	1.880032	0.999929038199504	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	3.68	2.76	0.31527	4.952000	0.63320	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:0.8882:0.0:0.1118	8.767	0.33870	645	0.63593	FERM central domain|Band 4.1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2111.33	35	chr11	64219750	.	C	G	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=897;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.85;SOR=0.801	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr11	64224836	64224836	G	A	exonic	TRPT1	.	nonsynonymous SNV	TRPT1:NM_001160393:exon3:c.C292T:p.L98F,TRPT1:NM_001330298:exon3:c.C145T:p.L49F,TRPT1:NM_031472:exon3:c.C145T:p.L49F,TRPT1:NM_001033678:exon4:c.C292T:p.L98F,TRPT1:NM_001160389:exon4:c.C292T:p.L98F,TRPT1:NM_001160390:exon4:c.C292T:p.L98F,TRPT1:NM_001160392:exon4:c.C292T:p.L98F	.	413	1094	15	0	0	15	0.0068089	.	.	.	2237933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00788684099836	0.0003	0.000199681	0.0004	0	9.045e-05	0	0	0.0004	0	0.0011	0.0002911	45	154602	rs117480910	0.0003	0.0003	0.0002	0.0003	0.0031	0.0003	0.0003	0.0020	0.0017	0	0.0001	0	0	0	0.0031	0.0002	0.0004	0.0017	0.0002	0.0002	0.0003	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	4.81e-05	0.0011	0.0002	0	0.0002	0	0	0.0003	0.0009	0.0010	0.374	0.14843	T	0.687	0.06690	T	0.958	0.54977	D	0.718	0.54779	P	0.018879	0.27384	N	0.382752	0.819309	0.28903	N	2.245	0.63543	M	0.95	0.43279	T	-1.86	0.48354	N	0.133	0.17002	-1.0029	0.29080	T	0.121	0.42079	T	10	0.027083486	0.00861	T	0.007887	0.20929	T	0.071	0.20720	.	.	0.430579932962	0.42676	0.3781561179762319	0.37730	0.301910662644	0.32526	0.274642884731	0.06756	T	0.003618	0.19643	T	-0.516643	0.00460	T	-0.56045	0.16335	T	0.03813772814303	0.03355	T	0.756624	0.49916	T	0.15393844	0.34869	0.14237995	0.33874	0.15393844	0.34869	0.14237995	0.33873	-6.212	0.48020	T	.	.	0.094	0.29088	B	.;.;.;.;.;.	.;.;.;.;.;.	2.646220	0.34442	19.63	0.72942754221160955	0.10151	0.56974	0.30255	D	AEFDBHCI	0.170174	0.29706	N	-0.396142816090723	0.25606	1.391248	-0.417861661259169	0.24473	1.340321	0.999999845689017	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.645665	0.59343	0	.	.	4.74	2.73	0.31266	3.582000	0.53665	9.559000	0.80991	0.676000	0.76740	0.747000	0.29101	1.000000	0.68203	0.768000	0.36443	0.083:0.1394:0.7776:0.0	9.879	0.40389	658	0.62094	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3449.33	213	chr11	64224836	.	G	A	3449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=868;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.046;SOR=0.773	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	64227038	64227038	C	G	exonic	NUDT22	.	nonsynonymous SNV	NUDT22:NM_001128612:exon2:c.C386G:p.T129R,NUDT22:NM_001128613:exon2:c.C386G:p.T129R,NUDT22:NM_001271831:exon2:c.C386G:p.T129R,NUDT22:NM_032344:exon2:c.C386G:p.T129R	.	429	1055	36	2	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	.	.	0.00399361	0.0089	0.0031	0.0050	0.0006	0.0008	0.0107	0.0249	0.0129	0.0070439	1089	154602	rs34448455	0.0097	0.0097	0.0094	0.0100	0.0248	0.0096	0.0095	0.0215	0.0202	0.0017	0.0057	0.0146	0.0001	0.0005	0.0248	0.0103	0.0110	0.0135	0.0066	0.0066	0.0070	0.0061	0.0147	0.0063	0.0061	0.0119	0.0109	0.0020	0.0132	0.0069	0.0150	0	0.0004	0.0102	0.0097	0.0057	0.0147	0.002	0.72154	D	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000055	0.53742	D	0.163089	0.999447	0.47080	D	2.885	0.83555	M	1.0	0.41392	T	-5.5	0.86836	D	0.926	0.94786	-0.6944	0.60703	T	0.222	0.58575	T	10	0.008678138	0.00197	T	.	.	.	0.438	0.74235	.	.	0.667668966213	0.66487	0.9841077304721016	0.98403	1.30046479418	0.83003	0.501046955585	0.38974	T	0.419126	0.80760	T	-0.0873057	0.38519	T	0.112846	0.77763	D	0.0723071513883433	0.08971	T	0.852015	0.53747	D	0.9507656	0.96343	0.6232096	0.78044	0.9507656	0.96344	0.6232096	0.78045	-10.58	0.84207	D	.	.	0.869	0.81236	P	.;.;.	.;.;.	4.089049	0.60890	24.3	0.98985630261292257	0.49821	0.86382	0.45651	D	ALL	0.622369	0.60672	D	0.384292774242042	0.60572	4.247432	0.236070456462524	0.51860	3.365079	0.999999999954304	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.55	3.63	0.40741	2.838000	0.47900	7.627000	0.62562	0.549000	0.26987	0.964000	0.33853	1.000000	0.68203	0.008000	0.08271	0.0:0.745:0.1645:0.0905	7.782	0.28237	658	0.62094	.;NUDIX hydrolase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015720	0.010638	0.017663	0.020588	0.000000	0.017241	0.012270	0.007576	0.02632	1370.33	34	chr11	64227038	.	C	G	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.45;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.349;SOR=0.735	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1575	18	0	1	0
chr11	64232457	64232457	C	T	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon3:c.C208T:p.P70S,DNAJC4:NM_001307981:exon3:c.C208T:p.P70S,DNAJC4:NM_005528:exon4:c.C208T:p.P70S	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.023731730792	.	0.00199681	0.0058	0.0022	0.0033	0	0.0025	0.0086	0.0060	0.0019	0.0057697	892	154602	rs199745306	0.0094	0.0094	0.0097	0.0090	0.0113	0.0092	0.0092	0.0112	0.0111	0.0015	0.0039	0.0027	2.539e-05	0.0027	0.0010	0.0113	0.0078	0.0019	0.0069	0.0069	0.0073	0.0065	0.0110	0.0066	0.0064	0.0104	0.0101	0.0020	0.0022	0.0097	0.0043	0	0.0018	0.0068	0.0110	0.0066	0.0033	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	D	0.124250	0.999968	0.81001	D	0.175	0.09039	N	1.6	0.28604	T	-5.23	0.83899	D	0.442	0.53445	-0.9944	0.31459	T	0.077	0.30798	T	10	0.0069697797	0.00158	T	0.023732	0.46702	T	0.274	0.59007	.	.	0.433269665224	0.42948	0.4101836193930648	0.40934	0.636145338307	0.57407	0.490828573704	0.37554	T	0.110152	0.42462	T	-0.451638	0.01105	T	-0.412128	0.31978	T	0.0337291168411911	0.02593	T	0.859214	0.55036	D	0.77296	0.82225	0.7564605	0.85607	0.77296	0.82227	0.7564605	0.85608	-5.38	0.40726	T	.	.	0.446	0.63466	A	.;.	.;.	4.642848	0.73929	26.1	0.99909064527550562	0.97875	0.94736	0.62153	D	AEFGBHCI	0.749271	0.69076	D	0.459290588826953	0.64732	4.73448	0.463856433323099	0.65611	4.84576	0.999999999975685	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.493711	0.08198	1	0.562822	0.20929	0	.	.	4.68	4.68	0.58319	3.381000	0.52188	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.472	0.60738	658	0.62094	DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain;DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain	ATL3|STIP1	Cells_Cultured_fibroblasts|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1707.33	33	chr11	64232457	.	C	T	1707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=702;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.33;ReadPosRankSum=0.188;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	18	0	1	0
chr11	64234004	64234004	C	T	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon5:c.C641T:p.S214F,DNAJC4:NM_001307981:exon5:c.C638T:p.S213F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00529735594086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997000777	8.894e-06	8.893e-06	1.089e-05	6.876e-06	2.987e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	2.987e-05	0	0	0	0	0	1.079e-05	0	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.053	0.38863	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.66	0.27486	T	-0.86	0.23372	N	0.184	0.19995	-1.0654	0.10456	T	0.041	0.17573	T	7	0.1041733	0.19191	T	0.005297	0.13556	T	0.018	0.03083	0.32	0.29902	0.282179105231	0.27821	0.1752167485083835	0.17440	.	.	.	.	.	.	.	.	-0.355034	0.04419	T	-0.684112	0.06736	T	0.0918525010347366	0.11436	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.	.	0.749879	0.11194	7.830	0.9701908193842762	0.32018	0.04433	0.10030	N	AEFDGBCI	0.111654	0.22098	N	-0.617227058765391	0.18426	0.9565704	-0.690488409626448	0.17198	0.9133758	0.999998404839761	0.74766	0.72623	0.87236	0	0.685571	0.66316	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.13	3.19	0.35720	0.585000	0.23580	-0.778000	0.07467	0.513000	0.23382	0.002000	0.15269	0.000000	0.08366	0.051000	0.15275	0.0:0.7892:0.2108:0.0	9.777	0.39794	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2361.33	45	chr11	64234004	.	C	T	2361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.414;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.632;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr11	64284284	64284284	C	T	exonic	BAD	.	nonsynonymous SNV	BAD:NM_004322:exon1:c.G85A:p.D29N,BAD:NM_032989:exon2:c.G85A:p.D29N	.	414	1106	1	1	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0157522902245	7.7e-05	.	0.0001	0	0	0.0008	0	9.305e-05	0	0	9.06e-05	14	154602	rs151235996	7.262e-05	7.251e-05	7.363e-05	7.161e-05	0.0004	6.124e-05	5.708e-05	0.0002	0.0002	0	0	0	0.0004	0	0.0002	7.285e-05	0.0001	2.319e-05	4.599e-05	4.596e-05	5.138e-05	4.034e-05	0.0002	2.109e-05	1.527e-05	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0002	0.159	0.41637	T	0.1	0.92824	T	0.977	0.90584	D	0.856	0.72001	P	0.000347	0.45440	D	0.000000	0.530898	0.31974	D	1.75	0.45442	L	0.7	0.51474	T	-2.07	0.75456	N	0.098	0.19593	-0.7670	0.57022	T	0.220	0.58292	T	10	0.07376987	0.11190	T	0.015752	0.36654	T	0.098	0.28162	.	.	0.730039547849	0.72763	0.15002142910672836	0.14924	0.924360987109	0.71577	0.454899519682	0.32613	T	0.510964	0.82710	D	-0.461328	0.00965	T	-0.501562	0.22186	T	0.432607144117355	0.30157	T	0.689231	0.29860	T	0.060191885	0.12321	0.079034574	0.17756	0.060191885	0.12320	0.079034574	0.17756	-4.666	0.32990	T	.	.	0.077	0.38372	B	.;.;.;.	.;.;.;.	1.866259	0.23708	16.12	0.99806856053121884	0.89085	0.08001	0.13981	N	AEFDGBHCI	0.092953	0.18813	N	0.0359786493266503	0.43499	2.641581	-0.131720716882279	0.34120	1.959098	0.999996070493072	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.41	2.47	0.29113	-0.114000	0.10729	0.798000	0.21632	-0.185000	0.09859	0.000000	0.06391	0.986000	0.30841	0.011000	0.09372	0.2401:0.7599:0.0:0.0	8.101	0.30018	653	0.62661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2400.33	35	chr11	64284284	.	C	T	2400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=814;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.583;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1053	5064.43	113	chr11	64320780	.	G	T	5064.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.139;DP=910;ExcessHet=0.7564;FS=3.929;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.32;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	15	0	4	0
chr11	64343604	64343604	C	G	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon12:c.C1307G:p.S436C	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0179895602384	.	0.000998403	9.968e-05	0	0	0.0029	0	0	0	0	0.0001035	16	154602	rs199688259	0.0003	0.0003	0.0003	0.0003	0.0110	0.0003	0.0003	0.0101	0.0098	0	2.801e-05	0	0.0110	0	0.0002	1.854e-06	0.0004	0.0003	0.0003	0.0003	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	0	0	0.0070	0	0	0	0	0.0006	0.047	0.40319	D	0.02	0.58613	D	0.997	0.70673	D	0.819	0.59018	P	.	.	.	.	0.868063	0.28251	N	0.69	0.16971	N	1.74	0.26301	T	-1.14	0.29323	N	0.407	0.44761	-1.1148	0.02688	T	0.059	0.24723	T	9	0.0067506433	0.00153	T	0.01799	0.39899	T	0.045	0.12272	.	.	0.212008924253	0.20833	0.45224413190745105	0.45142	0.857533634355	0.68814	0.607559561729	0.53971	T	0.005413	0.04862	T	-0.562369	0.00246	T	-0.572619	0.15210	T	0.135854871989315	0.15912	T	0.725127	0.33902	T	0.05266517	0.09854	0.06462604	0.12981	0.05266517	0.09853	0.06462604	0.12981	-5.753	0.44163	T	.	.	0.125	0.26294	B	.	.	3.487871	0.48738	22.7	0.96664439847642947	0.30639	0.29195	0.23757	N	AEFGBI	0.136954	0.25778	N	-0.0965881874474545	0.37540	2.18562	-0.214194624358781	0.31026	1.752076	0.999975412086735	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.05	3.14	0.35196	0.433000	0.21196	5.752000	0.49633	0.598000	0.34611	0.000000	0.06391	1.000000	0.68203	0.263000	0.23594	0.0:0.8822:0.0:0.1178	8.008	0.29495	596	0.68392	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	736.33	42	chr11	64343604	.	C	G	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=761;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.086;SOR=0.821	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1365	18	0	1	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.005051	0.010870	0.014620	0.100000	0.000000	0.030488	0.037879	0.02632	1003.33	42	chr11	64344322	.	G	A	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.43;SOR=0.651	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1053	2899.43	55	chr11	64349373	.	C	T	2899.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.802;DP=837;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.75;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1123:.	15	0	4	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018274	0.005208	0.010870	0.008772	0.100000	0.000000	0.037037	0.038168	0.02632	1116.33	34	chr11	64352209	.	C	T	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=713;ExcessHet=0;FS=3.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.68;SOR=0.492	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1444	18	0	1	0
chr11	64355623	64355623	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon26:c.G4370A:p.R1457Q	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00789826133485	0.0010	0.000199681	0.0014	0.0003	0.0021	0	0.0002	0.0018	0.0061	0.0011	0.0013001	201	154602	rs61738780	0.0010	0.0010	0.0010	0.0011	0.0341	0.0010	0.0010	0.0302	0.0287	0.0006	0.0015	0.0108	2.524e-05	0.0001	0.0341	0.0006	0.0026	0.0007	0.0013	0.0013	0.0014	0.0012	0.0018	0.0011	0.0011	0.0013	0.0011	0.0002	0.0209	0.0018	0.0115	0	0.0002	0.0102	0.0012	0.0047	0.0008	0.192	0.33254	T	0.244	0.24123	T	0.089	0.25085	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	1.3	0.32576	L	1.92	0.23082	T	-0.13	0.50502	N	0.169	0.18649	-1.0297	0.20551	T	0.036	0.15640	T	9	0.0052429438	0.00114	T	0.007898	0.20955	T	0.014	0.01968	.	.	0.15556083564	0.15200	0.05851753216562489	0.05792	0.307009449586	0.33004	0.234686657786	0.02333	T	0.001166	0.00668	T	-0.341553	0.05280	T	-0.288021	0.45978	T	0.00879350879709393	0.00108	T	0.750425	0.37198	T	0.018738678	0.00396	0.031751476	0.01808	0.018738678	0.00396	0.031751476	0.01808	-3.202	0.12628	T	.	.	0.092	0.13503	B	.;.	.;.	2.422020	0.31145	18.65	0.99385033340285744	0.62068	0.17497	0.19862	N	AEFDGBHCI	0.069256	0.13700	N	-0.502872519806394	0.21986	1.170848	-0.426668772490506	0.24218	1.324966	0.999999980921071	0.74766	0.730579	0.87903	0	0.635938	0.57008	0	0.749866	0.98131	0	0.721622	0.92947	0	.	.	3.95	1.87	0.24559	0.534000	0.22807	3.797000	0.39853	-0.695000	0.04090	0.395000	0.26129	1.000000	0.68203	0.606000	0.31539	0.3025:0.0:0.6975:0.0	4.694	0.12179	457	0.78953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.029204	0.015152	0.047554	0.052632	0.000000	0.068966	0.003049	0.000000	0.02632	1202.33	33	chr11	64355623	.	G	A	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=750;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.896;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	18	0	1	0
chr11	64556002	64556002	G	A	exonic	SLC22A11	.	startloss	SLC22A11:NM_001307985:exon1:c.G3A:p.M1?,SLC22A11:NM_018484:exon1:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.165260698813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.052e-06	1.369e-06	1.384e-06	2.245e-05	2.3e-07	9e-08	.	.	0	2.245e-05	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	U	0.000000	0.999907	0.50806	D	.	.	.	-0.48	0.70249	T	-3.69	0.71997	D	0.84	0.85554	-0.1187	0.79664	T	0.477	0.79945	T	9	0.96882075	0.96426	D	0.165261	0.84417	D	0.538	0.80664	0.748	0.87905	0.827594883919	0.82595	0.5607220131335457	0.55999	.	.	.	.	.	0.246377	0.61583	T	0.186794	0.72669	D	0.0305398	0.72313	D	0.983843743801117	0.75362	D	0.9	0.65058	D	0.76625943	0.81824	0.55900854	0.74487	0.76625943	0.81825	0.55900854	0.74488	-9.249	0.69286	D	.	.	.	.	.	.;.;.	.;.;.	2.941060	0.39102	20.9	0.99106725513587313	0.52623	0.68988	0.34012	D	AEFDGBCI	0.035677	0.04632	N	0.115189568779159	0.47171	2.946598	-0.0658650125964207	0.36811	2.147085	0.999999993714049	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.62	2.68	0.30839	6.256000	0.72433	4.652000	0.44201	0.617000	0.49538	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.1262:0.0:0.8738:0.0	8.272	0.31009	391	0.83213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1028.33	33	chr11	64556002	.	G	A	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=713;ExcessHet=0;FS=2.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.609;SOR=1.031	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	18	0	1	0
chr11	64600740	64600740	C	T	exonic	SLC22A12	.	nonsynonymous SNV	SLC22A12:NM_001276327:exon7:c.C1076T:p.T359M,SLC22A12:NM_001276326:exon9:c.C1298T:p.T433M,SLC22A12:NM_144585:exon9:c.C1400T:p.T467M,SLC22A12:NM_153378:exon9:c.C737T:p.T246M	Hypouricemia, renal, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	868233	Dalmatian_hypouricemia|SLC22A12-related_disorder|not_provided	MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.256691727966	7.7e-05	0.00179712	0.0014	0.0001	0.0003	0.0008	0	0.0002	0.0046	0.0081	0.0011513	178	154602	rs200104135	0.0005	0.0005	0.0004	0.0007	0.0058	0.0005	0.0005	0.0054	0.0052	0	0.0003	3.828e-05	0.0004	6.77e-05	0.0030	0.0002	0.0009	0.0058	0.0004	0.0004	0.0002	0.0007	0.0072	0.0003	0.0003	0.0054	0.0047	0.0002	0	6.532e-05	0	0.0012	0	0	0.0001	0.0019	0.0072	0.002	0.72154	D	0.076	0.59732	T	1.0	0.90584	D	0.88	0.76457	P	0.037096	0.24443	N	0.418990	0.597691	0.32511	D	2.13	0.59329	M	0.08	0.61559	T	-4.68	0.81595	D	0.796	0.79214	-0.4788	0.69410	T	0.288	0.66007	T	10	0.025063962	0.00712	T	0.256692	0.89340	D	0.367	0.68670	.	.	0.860991568236	0.85964	0.5507798908634502	0.55003	0.889622572193	0.70165	0.606148600578	0.53772	T	0.679134	0.90559	D	-0.324341	0.06549	T	-0.234805	0.51305	T	0.0838727124354833	0.10475	T	0.855114	0.54241	D	0.36221606	0.58005	0.5789989	0.75602	0.34577358	0.56736	0.53745306	0.73270	-6.695	0.55452	T	.	.	0.183	0.40889	B	.;.;.;.;.	.;.;.;.;.	3.651207	0.51821	23.2	0.99522149308898489	0.69284	0.69129	0.34066	D	AEFDBI	0.198968	0.32579	N	-0.141444679669452	0.35599	2.046873	-0.259588472748083	0.29442	1.649562	0.0213184414377857	0.13338	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.62	0.30337	0.829000	0.27102	3.294000	0.37329	-0.279000	0.06446	0.347000	0.25734	0.998000	0.33993	0.194000	0.21720	0.0:0.4665:0.5335:0.0	12.752	0.56685	460	0.78750	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003046	0.000000	0.000000	0.000000	0.000000	0.008621	0.009317	0.003817	0.02632	435.33	32	chr11	64600740	.	C	T	435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=602;ExcessHet=0;FS=4.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.653;SOR=0.169	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr11	64607816	64607816	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138734:exon7:c.C1381T:p.P461S,NRXN2:NM_138732:exon20:c.C4309T:p.P1437S,NRXN2:NM_015080:exon23:c.C4519T:p.P1507S	.	.	.	.	.	.	.	.	.	.	.	429250	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0906111056729	.	.	0.0002	0	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs749398433	6.415e-05	6.567e-05	6.988e-05	5.834e-05	7.77e-05	5.339e-05	4.952e-05	6.439e-05	5.937e-05	0	0	0	0	1.933e-05	0	7.77e-05	8.356e-05	1.192e-05	2.63e-05	2.627e-05	2.571e-05	2.692e-05	5.884e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.021	0.49117	D	0.004	0.74150	D	0.97	0.77913	D	0.904	0.84481	P	.	.	.	.	0.995657	0.42792	D	1.15	0.29295	L	0.48	0.63738	T	-2.8	0.59226	D	0.194	0.46368	-0.7482	0.58029	T	0.257	0.62800	T	9	0.15944955	0.29958	T	0.090611	0.75550	D	0.194	0.47447	.	.	0.228066490088	0.22430	0.2563555045427475	0.25549	1.0531444316	0.76231	0.752923667431	0.74878	T	0.52119	0.83259	D	-0.175086	0.24470	T	-0.263573	0.48467	T	0.28318240805359	0.24305	T	0.882812	0.63671	D	0.10534921	0.24909	0.14770517	0.34944	0.10534921	0.24908	0.14770517	0.34943	-4.072	0.24876	T	.	.	0.424	0.68966	A	.;.;.;.;.	.;.;.;.;.	3.979847	0.58499	24.0	0.99797911694492769	0.88283	0.97862	0.77688	D	AEFDBI	0.874022	0.79669	D	0.159420807026322	0.49259	3.128278	0.193125887554184	0.49470	3.149731	0.999954618243469	0.48110	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	3.9	3.9	0.44240	7.009000	0.76094	11.319000	0.92524	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	13.739	0.62316	449	0.79428	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2276.33	38	chr11	64607816	.	G	A	2276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=890;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.822;SOR=0.791	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1406	18	0	1	0
chr11	64650495	64650495	C	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon13:c.G2942T:p.R981L,NRXN2:NM_001376265:exon14:c.G3017T:p.R1006L,NRXN2:NM_001376262:exon15:c.G3062T:p.R1021L,NRXN2:NM_001376263:exon15:c.G3041T:p.R1014L,NRXN2:NM_001376266:exon15:c.G3038T:p.R1013L,NRXN2:NM_001376267:exon15:c.G3041T:p.R1014L,NRXN2:NM_015080:exon15:c.G3062T:p.R1021L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.042790129407	.	.	8.236e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781265629	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.002	0.79402	D	0.712	0.61912	P	0.474	0.64984	P	0.000496	0.43931	U	0.000000	0.999906	0.50806	D	0.62	0.15745	N	-1.14	0.77843	T	-3.75	0.71157	D	0.615	0.66101	-0.0716	0.80744	T	0.461	0.79095	T	10	0.77108586	0.77088	D	0.04279	0.60646	D	0.568	0.82403	0.717	0.85230	0.391520894214	0.38767	0.6517620603208216	0.65112	1.79356630944	0.91544	0.636340856552	0.58045	T	0.433677	0.78102	T	0.0380679	0.56792	T	-0.0139663	0.69426	D	0.959173679351807	0.65464	D	0.978602	0.92442	D	0.30152982	0.53042	0.32751033	0.58648	0.30152982	0.53042	0.32751033	0.58648	-9.927	0.74163	D	.	.	0.566	0.69489	P	.;.;.;.	.;.;.;.	4.748530	0.76647	26.6	0.99816710911406348	0.89973	0.95079	0.63361	D	AEFDGBI	0.737641	0.68277	D	0.372058399231032	0.59912	4.174881	0.404695162514878	0.61858	4.391805	0.999960698926164	0.48965	0.625279	0.40028	0	0.547309	0.14657	0	0.687403	0.62504	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	1.770000	0.38162	5.892000	0.50774	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.055	0.71574	431	0.80762	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1783.33	34	chr11	64650495	.	C	A	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=775;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=2.02;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	18	0	1	0
chr11	64767012	64767012	T	C	exonic	SF1	.	nonsynonymous SNV	SF1:NM_001346410:exon11:c.A1129G:p.T377A,SF1:NM_001346363:exon12:c.A1465G:p.T489A,SF1:NM_001346364:exon12:c.A1465G:p.T489A,SF1:NM_201997:exon12:c.A1474G:p.T492A	.	362	1141	17	2	0	21	0.00911854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0002	0.00179712	0.0010	0.0002	0.0005	0	0	0.0002	0.0015	0.0086	0.0009314	144	154602	rs369316385	0.0009	0.0009	0.0006	0.0012	0.0098	0.0008	0.0008	0.0092	0.0090	0.0001	0.0003	5.053e-05	0	0	0.0052	0.0003	0.0011	0.0098	0.0004	0.0004	0.0004	0.0005	0.0067	0.0003	0.0003	0.0048	0.0042	9.799e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0010	0.0067	1.0	0.09374	T	0.848	0.03527	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.49358	T	-0.36	0.13035	N	0.15	0.15328	-1.0814	0.07079	T	0.076	0.30522	T	8	0.00494349	0.00106	T	.	.	.	0.084	0.24469	.	.	0.350252656262	0.34631	.	.	.	.	.	.	.	0.007335	0.06752	T	-0.458176	0.01009	T	-0.424234	0.30591	T	0.00778443645729347	0.00091	T	0.286971	0.05151	T	.	.	.	.	.	.	.	.	-2.541	0.06068	T	.	.	0.059	0.00767	B	.;.	.;.	0.624193	0.09926	6.684	0.67670482053890502	0.08424	0.07055	0.13081	N	AEFBCI	0.032786	0.03768	N	-1.0587109625864	0.07417	0.3445187	-1.01898216482927	0.09368	0.465665	0.999996570829143	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.26	-2.56	0.05903	-2.517000	0.01030	-2.680000	0.03474	-0.992000	0.01845	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.235:0.3625:0.0:0.4024	4.593	0.11708	404	0.82510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr11	64767012	.	T	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.866;DP=728;ExcessHet=0;FS=4.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.01;SOR=1.248	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1235	18	0	1	0
chr11	64767031	64767033	GGC	-	exonic	SF1	.	nonframeshift deletion	SF1:NM_001346409:exon11:c.1104_1106del:p.P370del,SF1:NM_001346410:exon11:c.1108_1110del:p.A370del,SF1:NM_001178030:exon12:c.1824_1826del:p.P610del,SF1:NM_001178031:exon12:c.1371_1373del:p.P459del,SF1:NM_001346363:exon12:c.1444_1446del:p.A482del,SF1:NM_001346364:exon12:c.1444_1446del:p.A482del,SF1:NM_001378956:exon12:c.1824_1826del:p.P610del,SF1:NM_001378957:exon12:c.1824_1826del:p.P610del,SF1:NM_004630:exon12:c.1449_1451del:p.P485del,SF1:NM_201995:exon12:c.1449_1451del:p.P485del,SF1:NM_201997:exon12:c.1453_1455del:p.A485del,SF1:NM_201998:exon12:c.1449_1451del:p.P485del	.	0	216	9	1	0	11	0.0248307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	.	0.0020	0.0006	0.0020	0.0012	0.0008	0.0021	0.0054	0.0044	0.0009989	26	26028	rs71581802	0.0014	0.0027	0.0012	0.0016	0.0061	0.0013	0.0013	0.0051	0.0049	0.0004	0.0018	0.0033	0.0016	0.0004	0.0061	0.0011	0.0020	0.0055	0.0013	0.0014	0.0012	0.0014	0.0062	0.0012	0.0011	0.0045	0.0039	0.0004	0.0066	0.0010	0.0032	0.0006	0.0004	0.0136	0.0016	0.0028	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013875	0.020408	0.008287	0.011905	0.000000	0.018182	0.009317	0.019531	0.02632	1514.29	36	chr11	64767030	.	AGGC	A	1514.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.69;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.74;ReadPosRankSum=0.625;SOR=0.809	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1235	18	0	1	0
chr11	64833281	64833281	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon24:c.G2681A:p.R894H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.148760061746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.734e-06	7.524e-06	5.658e-06	5.813e-06	2.801e-05	2.47e-06	1.78e-06	2.7e-06	1.74e-06	0	0	0	2.801e-05	0	0	6.494e-06	0	0	6.582e-06	6.57e-06	0	1.348e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.396733	0.13180	N	0.665321	0.999028	0.21700	N	-0.885	0.01428	N	-2.95	0.91903	D	2.56	0.00220	N	0.097	0.07811	-0.5671	0.66130	T	0.185	0.53496	T	10	0.03848815	0.02270	T	0.14876	0.83064	D	0.204	0.49076	0.482	0.56302	0.607789150232	0.60464	0.3480593431332238	0.34719	0.299117560637	0.32281	0.391343891621	0.23859	T	0.130568	0.45954	T	-0.166299	0.25795	T	-0.476654	0.24803	T	0.0356788299977779	0.02925	T	0.70293	0.31283	T	0.023573581	0.01109	0.029281693	0.01249	0.023573581	0.01108	0.029281693	0.01249	-3.572	0.17453	T	.	.	0.078	0.06990	B	.	.	2.577565	0.33415	19.33	0.32806695242604095	0.01921	0.12367	0.17225	N	AEFBI	0.046855	0.07827	N	-1.29189199995975	0.03772	0.169103	-1.02452314061928	0.09247	0.4589704	0.9914527936253	0.32494	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.3	-1.7	0.07721	0.480000	0.21954	0.016000	0.13516	-0.197000	0.09056	0.506000	0.27002	0.646000	0.25939	0.983000	0.59808	0.1305:0.4077:0.0:0.4618	5.485	0.16038	309	0.87553	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	957.33	34	chr11	64833281	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.493;DP=738;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.29;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1164	18	0	1	0
chr11	64836428	64836428	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon12:c.G1487A:p.R496Q	.	.	.	.	.	.	.	.	0	0.024	.	3644865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00814575739198	.	.	6.635e-05	9.677e-05	0	0.0001	0	0	0	0.0004	5.82e-05	9	154602	rs768977915	4.791e-05	4.857e-05	3.949e-05	5.64e-05	0.0003	3.862e-05	3.542e-05	0.0002	0.0002	0.0001	4.473e-05	0	0.0001	0	0	2.518e-05	9.937e-05	0.0003	5.258e-05	5.907e-05	2.571e-05	8.068e-05	0.0004	2.558e-05	1.83e-05	8.877e-05	5.386e-05	0	0	0.0003	0	0.0002	0	0	1.472e-05	0	0.0004	0.285	0.15251	T	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.055776	0.22615	N	0.313045	0.948202	0.26576	N	-1.92	0.00231	N	1.98	0.21865	T	-0.18	0.09796	N	0.153	0.15749	-0.9927	0.31906	T	0.014	0.05465	T	10	0.027538419	0.00898	T	0.008146	0.21598	T	0.022	0.04323	0.272	0.22210	0.183819452728	0.17975	0.021707680984512187	0.02122	0.27387013259	0.29889	0.37955981493	0.22195	T	0.011961	0.10589	T	-0.577933	0.00198	T	-0.767614	0.02847	T	0.0318876069432993	0.02287	T	0.49875	0.15541	T	0.034299806	0.03822	0.03212224	0.01901	0.034299806	0.03822	0.03212224	0.01901	-3.467	0.15973	T	.	.	0.058	0.00658	B	.	.	0.948807	0.13246	9.749	0.92484842303916981	0.21917	0.08207	0.14165	N	AEFGBI	0.055482	0.10178	N	-1.05360675368426	0.07516	0.3494509	-0.864168979414357	0.12947	0.6689682	0.99847104680272	0.37033	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.41	2.03	0.25714	-0.844000	0.04453	1.375000	0.25987	-0.126000	0.13398	0.000000	0.06391	1.000000	0.68203	0.058000	0.15825	0.0:0.2035:0.0:0.7965	6.703	0.22421	307	0.87649	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1662.33	38	chr11	64836428	.	C	T	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=896;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.12;SOR=0.622	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	64905621	64905621	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon24:c.G3382A:p.A1128T,ATG2A:NM_001367972:exon24:c.G3382A:p.A1128T,ATG2A:NM_015104:exon24:c.G3406A:p.A1136T	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.016526267159	0.0002	0.00199681	0.0014	0	0.0001	0	0	0.0003	0.0038	0.0087	0.0011449	177	154602	rs374586580	0.0008	0.0008	0.0007	0.0009	0.0063	0.0007	0.0007	0.0058	0.0057	0.0001	0.0001	0	5.04e-05	7.502e-05	0.0005	0.0005	0.0006	0.0063	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	0.0001	0	0.0001	0	0	0	0	0.0004	0.0009	0.0064	0.13	0.26740	T	0.128	0.34959	T	0.087	0.24971	B	0.013	0.16460	B	0.000001	0.84330	D	0.000000	0.999791	0.49177	D	2.48	0.72069	M	3.19	0.07353	T	-1.2	0.30555	N	0.432	0.47115	-0.7707	0.56820	T	0.230	0.59608	T	10	0.008916557	0.00202	T	0.016526	0.37830	T	0.050	0.13987	.	.	0.102598925029	0.09809	0.5603068715286148	0.55957	0.149477780584	0.16849	0.525762081146	0.42437	T	0.029814	0.21277	T	-0.50646	0.00526	T	-0.495284	0.22838	T	0.0402178715161687	0.03731	T	0.783822	0.42110	T	0.06670891	0.14380	0.08212884	0.18719	0.06670891	0.14380	0.08212884	0.18719	-7.298	0.56181	T	.	.	0.118	0.24020	B	.	.	3.386394	0.46868	22.4	0.99290528908054276	0.58255	0.95090	0.63401	D	AEFDGBI	0.511343	0.54001	D	0.0112684498191239	0.42368	2.551381	-0.0262579861003195	0.38532	2.271555	0.999865191705542	0.44398	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	3.94	0.44807	4.614000	0.60886	3.255000	0.37052	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.041000	0.14368	0.0:0.909:0.0:0.091	11.092	0.47344	284	0.88763	Autophagy-related protein 2 CAD motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	1028.33	34	chr11	64905621	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.209;DP=721;ExcessHet=0;FS=9.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.047;SOR=0.2	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1234	18	0	1	0
chr11	64909908	64909908	G	A	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon14:c.C1880T:p.A627V,ATG2A:NM_001367972:exon14:c.C1880T:p.A627V,ATG2A:NM_015104:exon14:c.C1880T:p.A627V	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0002	0.00678914	0.0035	0	0.0003	0.0446	0	0.0002	0	0.0007	0.0028848	446	154602	rs2285347	0.0014	0.0014	0.0014	0.0014	0.0462	0.0014	0.0014	0.0444	0.0437	0	6.742e-05	0.0002	0.0462	2.075e-05	0.0007	6.595e-05	0.0015	0.0012	0.0016	0.0016	0.0014	0.0019	0.0440	0.0015	0.0014	0.0393	0.0375	0	0	0.0003	0	0.0440	0	0	0.0002	0.0009	0.0012	0.04	0.42199	D	0.045	0.49390	D	0.203	0.29776	B	0.028	0.21332	B	0.141409	0.02889	N	1.640290	1	0.08975	N	2.08	0.57402	M	3.15	0.07820	T	-1.71	0.40660	N	0.145	0.14622	-0.9885	0.32978	T	0.005	0.01688	T	10	0.0035417974	0.00064	T	.	.	.	0.113	0.31778	.	.	0.082315109003	0.07666	0.2529197553834623	0.25205	0.14949255728	0.16857	0.339654803276	0.16387	T	0.025005	0.18784	T	-0.601156	0.00143	T	-0.602715	0.12584	T	0.0177587489943653	0.00505	T	0.663034	0.27207	T	0.03188837	0.03110	0.04088055	0.04519	0.03188837	0.03110	0.04088055	0.04519	-4.854	0.35214	T	.	.	0.083	0.09336	B	.	.	1.155655	0.15440	11.85	0.97239292528581633	0.32987	0.16235	0.19294	N	AEFDGBI	0.057608	0.10746	N	-0.972697697144956	0.09190	0.4339232	-1.01809112950853	0.09388	0.4667623	0.015687942744007	0.12743	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.59	1.35	0.21078	1.118000	0.30860	4.464000	0.43470	-0.244000	0.07312	0.002000	0.15269	0.904000	0.28019	0.000000	0.00833	0.3855:0.0:0.6145:0.0	6.081	0.19164	293	0.88320	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.000000	0.002941	0.000000	0.000000	0.012195	0.000000	0.02632	1956.33	41	chr11	64909908	.	G	A	1956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=862;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=0.757;SOR=1.008	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr11	65044588	65044588	G	A	exonic	SAC3D1	.	nonsynonymous SNV	SAC3D1:NM_013299:exon2:c.G938A:p.R313H,SAC3D1:NM_001367485:exon3:c.G938A:p.R313H	.	417	1104	1	0	0	1	0.000452694	.	.	.	2205825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00325466506456	.	.	8.3e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs758781513	4.173e-05	4.173e-05	4.492e-05	3.85e-05	0.0001	3.311e-05	3.001e-05	4.358e-05	2.836e-05	2.987e-05	0.0001	0	5.038e-05	1.876e-05	0	4.137e-05	3.311e-05	4.637e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.178	0.22138	T	0.449	0.12993	T	.	.	.	.	.	.	0.580553	0.05533	N	1.277670	1	0.08975	N	.	.	.	1.52	0.30669	T	0.04	0.06488	N	0.111	0.09772	-1.0022	0.29284	T	0.039	0.16720	T	10	0.057752877	0.06683	T	0.003255	0.07177	T	0.005	0.00259	.	.	0.193865811164	0.18958	0.21337442591655806	0.21253	0.505489452622	0.48788	0.273733228445	0.06633	T	0.003445	0.02849	T	-0.526218	0.00404	T	-0.796681	0.01987	T	0.0259968591521307	0.01405	T	0.672333	0.28093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.120364	0.05179	1.696	0.82112183323523935	0.14025	0.03029	0.07912	N	AEFGBI	0.095841	0.19358	N	-1.39717640377038	0.02665	0.1179931	-1.45922306649103	0.02687	0.124072	0.999993821173395	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	-4.78	0.02975	-2.166000	0.01358	-2.536000	0.03636	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.5857:0.0:0.2868:0.1275	6.9	0.23458	328	0.86572	Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1250.33	34	chr11	65044588	.	G	A	1250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.366;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.51;SOR=0.718	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	65046463	65046463	C	A	exonic	NAALADL1	.	nonsynonymous SNV	NAALADL1:NM_005468:exon14:c.G1663T:p.D555Y	.	419	1096	5	2	0	9	0.00408905	.	.	.	2336904	not_specified|Retinal_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0166539387118	0.0007	0.000798722	0.0012	0	0.0007	0.0001	0.0002	0.0013	0.0022	0.0024	0.0010349	160	154602	rs138345812	0.0008	0.0008	0.0007	0.0009	0.0062	0.0007	0.0007	0.0046	0.0041	0.0002	0.0006	0.0028	2.519e-05	0.0001	0.0062	0.0007	0.0009	0.0021	0.0007	0.0007	0.0007	0.0007	0.0019	0.0006	0.0005	0.0010	0.0007	0.0001	0	0.0004	0.0055	0.0002	0	0.0034	0.0009	0.0019	0.0019	0.001	0.78490	D	0.058	0.46182	T	0.015	0.17086	B	0.035	0.22741	B	0.003678	0.34636	N	0.314743	0.697613	0.81001	D	2.525	0.73725	M	0.72	0.50976	T	-4.15	0.77881	D	0.485	0.51940	-0.8227	0.53765	T	0.185	0.53361	T	10	0.0149817765	0.00315	T	0.016654	0.38007	T	0.192	0.47115	.	.	0.671920203974	0.66915	0.6857444840190312	0.68514	0.215998724912	0.24126	0.32479852438	0.14148	T	0.215093	0.57687	T	-0.330663	0.06061	T	-0.253918	0.49430	T	0.10437948943901	0.12832	T	0.892211	0.63166	D	0.83356684	0.86152	0.67173874	0.80736	0.83356684	0.86154	0.67173874	0.80737	-13.073	0.89662	D	.	.	0.222	0.65105	B	.;.;.;.;.	.;.;.;.;.	3.521247	0.49360	22.8	0.9918111997349921	0.54672	0.72036	0.35275	D	AEFDGBI	0.404767	0.47792	N	0.318151657640724	0.57080	3.874115	0.395607921311149	0.61295	4.327477	0.999998423192467	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	5.53	5.53	0.82530	1.445000	0.34690	1.389000	0.26100	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.173:0.827:0.0:0.0	11.981	0.52411	328	0.86572	Peptidase M28;.;.;Peptidase M28;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1021.33	33	chr11	65046463	.	C	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=746;ExcessHet=0;FS=5.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.072;SOR=1.157	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	65110595	65110595	T	A	exonic	VPS51	.	stopgain	VPS51:NM_013265:exon8:c.T1992A:p.Y664X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	.	.	2.473e-05	0	8.64e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs779385045	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.062106	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.392	0.43320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418859	0.90961	D	0.566539	0.96104	D	0.996747374534607	0.89989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.181941	0.96238	35	0.99337241637852836	0.60012	0.27888	0.23402	N	AEFDGBHCI	0.492994	0.52940	N	0.261526853019907	0.54212	3.587339	0.0206866601607622	0.40677	2.431415	0.999999999999999	0.74766	0.741868	0.97996	0	0.67197	0.64623	0	0.774882	0.98623	0	0.636	0.56748	0	.	.	4.67	-3.06	0.05053	0.350000	0.19818	-1.526000	0.05242	-0.194000	0.09177	0.992000	0.37556	0.000000	0.08366	0.933000	0.47100	0.0:0.8308:0.0:0.1692	15.926	0.79402	371	0.84287	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1824.33	36	chr11	65110595	.	T	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.422;DP=791;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.842;SOR=0.677	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1174	18	0	1	0
chr11	65117181	65117181	G	A	exonic	ZNHIT2	.	nonsynonymous SNV	ZNHIT2:NM_014205:exon1:c.C473T:p.P158L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0121560406817	8e-05	0.00179712	0.0007	0.0003	0	0.0085	0	3.732e-05	0	0.0001	0.0005692	88	154602	rs202046717	0.0005	0.0005	0.0005	0.0005	0.0139	0.0005	0.0004	0.0129	0.0125	0.0004	2.492e-05	0.0001	0.0139	2.709e-05	0	6.516e-05	0.0008	0.0001	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0004	0.0082	0.0074	0.0005	0	0.0003	0	0.0104	0	0	1.47e-05	0.0014	0.0004	1.0	0.00964	T	0.012	0.63918	D	0.0	0.02946	B	0.0	0.01387	B	0.720442	0.09939	N	0.798993	1	0.08975	N	1.655	0.42436	L	1.47	0.31987	T	0.43	0.03297	N	0.083	0.05929	-1.0208	0.23454	T	0.050	0.21222	T	10	0.0038998425	0.00074	T	0.012156	0.30482	T	0.019	0.03383	.	.	0.0401082797425	0.02173	0.3238930091977015	0.32302	0.519446559066	0.49770	0.630332231522	0.57192	T	0.009857	0.08945	T	-0.61345	0.00121	T	-0.649109	0.09016	T	0.00617369203227365	0.00068	T	0.510849	0.16306	T	0.025280338	0.01449	0.04015162	0.04273	0.025280338	0.01449	0.04015162	0.04272	-4.367	0.29106	T	.	.	0.080	0.07841	B	.	.	0.546570	0.09152	5.934	0.91356258104156773	0.20620	0.05123	0.10929	N	AEFDGBHCI	0.069411	0.13738	N	-1.24507590838879	0.04365	0.1968504	-1.31321449043413	0.04258	0.2004751	0.999999992673411	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.75	0.6	0.16703	0.110000	0.15273	1.308000	0.25520	-0.202000	0.08738	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.4309:0.0:0.5691:0.0	8.271	0.31006	376	0.83959	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	36	chr11	65117181	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.369;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	65125541	65125541	C	G	exonic	MRPL49	.	nonsynonymous SNV	MRPL49:NM_004927:exon3:c.C283G:p.P95A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0524215965707	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775771263	8.209e-06	8.209e-06	1.089e-05	5.5e-06	2.236e-05	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.194e-06	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-1.2	0.78537	T	-7.93	0.96269	D	0.898	0.93370	0.014	0.82535	D	0.507	0.81440	D	10	0.98175645	0.98218	D	0.052422	0.65065	D	0.683	0.88396	0.902	0.97858	0.954069563567	0.95358	0.8056197415821316	0.80516	0.943382254411	0.72301	0.569752931595	0.48643	T	0.398186	0.87160	T	0.325845	0.84880	D	0.337934	0.89833	D	0.947981834411621	0.62798	D	0.920508	0.71260	D	0.89494276	0.90936	0.8357479	0.90559	0.89494276	0.90937	0.8357479	0.90560	-12.493	0.87169	D	.	.	0.830	0.78721	P	.;.	.;.	4.249265	0.64489	24.7	0.99072188393678506	0.51762	0.95676	0.65684	D	AEFBCI	0.843383	0.76042	D	0.456227102958177	0.64557	4.712955	0.457863165587531	0.65224	4.79677	0.99999999999855	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.177000	0.77194	7.692000	0.65839	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:1.0:0.0:0.0	17.680	0.88144	397	0.82902	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	36	chr11	65125541	.	C	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=704;ExcessHet=0;FS=0.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-0.618;SOR=0.506	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1697.33	33	chr11	65172786	.	C	T	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=766;ExcessHet=0;FS=3.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.24;SOR=1.071	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr11	65188467	65188467	A	G	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon9:c.A983G:p.K328R,CAPN1:NM_001198869:exon9:c.A983G:p.K328R,CAPN1:NM_005186:exon9:c.A983G:p.K328R	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	399	1121	2	0	0	2	0.000891266	.	.	.	1907988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.265	0.0296442288746	.	0.000199681	0.0003	0	0.0001	0	0	0.0001	0	0.0019	0.0002393	37	154602	rs550600375	0.0001	0.0001	7.49e-05	0.0002	0.0036	0.0001	0.0001	0.0024	0.0020	0	0	0	0	0	0.0036	3.598e-06	0.0002	0.0018	6.565e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.579	0.06011	T	0.493	0.11443	T	0.001	0.07471	B	0.008	0.13708	B	0.000006	0.62929	D	0.141985	0.994683	0.42376	D	0.9	0.23182	L	-2.29	0.87591	D	-0.64	0.18670	N	0.21	0.23506	-0.5088	0.68330	T	0.390	0.74438	T	10	0.019475102	0.00435	T	0.029644	0.52117	D	0.265	0.57870	0.423	0.46693	0.83196600744	0.83037	0.29335140239945956	0.29248	0.263449209043	0.28900	0.520062208176	0.41635	T	0.216035	0.57809	T	-0.427023	0.01545	T	-0.392949	0.34205	T	0.0258336385770609	0.01383	T	0.681532	0.29028	T	0.09917676	0.23402	0.09260392	0.21833	0.09917676	0.23402	0.09260392	0.21833	-3.119	0.11516	T	0.11772004122928525	0.10785	0.071	0.04159	B	.;.;.;.;.	.;.;.;.;.	2.567112	0.33255	19.29	0.98437843738762532	0.41475	0.78390	0.38667	D	AEFDGBI	0.229478	0.35299	N	-0.334434478790609	0.27849	1.531216	-0.13459098309302	0.34007	1.951392	0.722446755566252	0.22948	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.63	4.63	0.57175	2.092000	0.41326	3.294000	0.37329	0.756000	0.94297	0.968000	0.34134	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.300	0.54193	408	0.82256	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1880.33	33	chr11	65188467	.	A	G	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.75;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr11	65320962	65320962	C	T	exonic	CDC42EP2	.	nonsynonymous SNV	CDC42EP2:NM_006779:exon2:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	.	0.0014	0.000798722	0.0029	0.0003	0.0003	0	0.0163	0.0035	0.0034	0.0004	0.0025614	396	154602	rs148229585	0.0022	0.0022	0.0023	0.0020	0.0020	0.0021	0.0021	0.0019	0.0019	0.0003	0.0007	7.653e-05	2.521e-05	0.0146	0	0.0020	0.0018	0.0003	0.0023	0.0023	0.0017	0.0030	0.0023	0.0021	0.0021	0.0020	0.0019	0.0004	0	0.0004	0	0	0.0162	0	0.0023	0.0005	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999944	0.51968	D	2.52	0.73523	M	0.87	0.46412	T	-6.58	0.91956	D	0.889	0.92784	-0.6078	0.64495	T	0.243	0.61177	T	10	0.0115062	0.00251	T	.	.	.	0.331	0.65325	.	.	0.778451135795	0.77641	0.7982432456587572	0.79777	.	.	0.850747466087	0.89727	D	0.472979	0.80503	T	-0.101174	0.36231	T	0.0775913	0.75417	D	0.068069720559718	0.08378	T	0.992101	0.97494	D	0.7310667	0.79783	0.5527528	0.74137	0.7310667	0.79785	0.5527528	0.74137	-9.771	0.72528	D	.	.	0.848	0.79631	P	.;.	.;.	4.113737	0.61430	24.3	0.99924197937817694	0.98980	0.43868	0.27193	N	AEFGBI	0.552184	0.56395	D	0.42403112433526	0.62746	4.495739	0.318290604162541	0.56613	3.825031	0.999988461762415	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.12	0.47504	0.030000	0.13576	2.191000	0.31208	0.549000	0.26987	0.003000	0.16062	0.976000	0.30059	0.997000	0.79791	0.3038:0.6962:0.0:0.0	10.955	0.46564	283	0.88803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1299.33	38	chr11	65320962	.	C	T	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=731;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.144;SOR=0.781	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1232	18	0	1	0
chr11	65526332	65526332	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon4:c.G584A:p.R195K,SCYL1:NM_020680:exon4:c.G584A:p.R195K	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	2868291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.017	0.0151815479353	7.9e-05	0.000599042	0.0012	0	0	0	0.0082	0.0010	0.0037	0.0018	0.0009185	142	154602	rs200014873	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0011	0	0	0	0	0.0076	0	9.223e-05	0.0004	0.0013	0.0008	0.0008	0.0006	0.0011	0.0017	0.0007	0.0007	0.0008	0.0006	0	0	0	0	0	0.0087	0	0.0004	0.0009	0.0017	1.0	0.02079	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.12133	B	0.016945	0.27845	N	0.249507	0.938338	0.26866	N	.	.	.	-0.04	0.72889	T	0.01	0.08809	N	0.283	0.37613	-1.0199	0.23747	T	0.095	0.35924	T	10	0.0052575767	0.00115	T	0.015182	0.35761	T	0.017	0.02790	.	.	0.29132392195	0.28731	0.342270564857262	0.34140	0.367028223889	0.38272	0.389661490917	0.23622	T	0.034406	0.23310	T	-0.501618	0.00560	T	-0.517943	0.20504	T	0.0108483369948447	0.00155	T	0.666633	0.27564	T	0.09804565	0.23119	0.04977343	0.07674	0.09804565	0.23119	0.04977343	0.07674	-1.881	0.02762	T	.	.	0.073	0.09385	B	.;.;.;.;.;.	.;.;.;.;.;.	2.183143	0.27831	17.59	0.75629314243550516	0.11149	0.85085	0.44189	D	AEFB	0.177071	0.30430	N	-0.878434339333252	0.11357	0.5476211	-0.683854166825278	0.17365	0.9229736	0.999586905858786	0.40607	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.638787	0.57140	0	.	.	4.82	1.46	0.21769	1.372000	0.33866	4.412000	0.43285	-0.110000	0.15115	0.995000	0.38783	1.000000	0.68203	0.972000	0.54974	0.3691:0.2375:0.3934:0.0	2.820	0.05133	278	0.89047	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	461.33	35	chr11	65526332	.	G	A	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=1.27;SOR=0.757	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1253	18	0	1	0
chr11	65551467	65551467	C	T	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon10:c.G1556A:p.S519N,LTBP3:NM_001164266:exon10:c.G1205A:p.S402N,LTBP3:NM_021070:exon10:c.G1556A:p.S519N	Dental anomalies and short stature, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	1525194	Inborn_genetic_diseases|Brachyolmia-amelogenesis_imperfecta_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0861708774913	.	0.00179712	0.0007	0	8.684e-05	0	0	3.03e-05	0	0.0052	0.0006404	99	154602	rs570380350	0.0004	0.0004	0.0002	0.0005	0.0055	0.0004	0.0004	0.0051	0.0049	0	0	0	5.038e-05	0	0.0016	4.946e-05	0.0005	0.0055	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	2.407e-05	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0062	0.187	0.24564	T	0.208	0.26969	T	0.145	0.27759	B	0.099	0.30579	B	0.400142	0.04529	N	1.416120	1	0.08975	N	1.355	0.33814	L	-1.4	0.81150	T	-0.57	0.19720	N	0.122	0.14905	-0.8711	0.50446	T	0.311	0.68175	T	10	0.0053569376	0.00118	T	0.086171	0.74682	D	0.152	0.39956	0.277	0.23004	0.661277560528	0.65843	0.41550788690554474	0.41466	.	.	0.349294781685	0.17819	T	0.096512	0.39840	T	-0.481784	0.00722	T	-0.463183	0.26253	T	0.0238298148789706	0.01124	T	0.773923	0.40554	T	0.031429987	0.02981	0.048002582	0.07038	0.032936346	0.03415	0.052800663	0.08771	-5.692	0.43623	T	.	.	0.088	0.20972	B	.;.;.	.;.;.	1.444103	0.18638	13.85	0.97814607929400699	0.36155	0.06490	0.12500	N	AEFDGBHCI	0.073288	0.14654	N	-0.869197293666338	0.11580	0.5596304	-0.876713039163787	0.12647	0.6517537	0.99999999232414	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.56	-0.409	0.11761	0.062000	0.14264	1.951000	0.29885	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.984000	0.60418	0.476:0.3896:0.1344:0.0	6.125	0.19393	290	0.88477	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	582.33	40	chr11	65551467	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.581;DP=695;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.328;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1219	18	0	1	0
chr11	65599519	65599519	-	GGGAAGGGGGCGGCTCGGTCGGGC	exonic	MAP3K11	.	nonframeshift insertion	MAP3K11:NM_002419:exon9:c.2080_2081insGCCCGACCGAGCCGCCCCCTTCCC:p.S693_P694insRPTEPPPS	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0002	0.0003	0.0013	8.288e-05	3.84e-05	1	26028	rs746165183	9.227e-05	9.782e-05	8.653e-05	9.817e-05	0.0002	7.841e-05	7.392e-05	8.055e-05	7.518e-05	0	9.366e-05	0	0	0.0002	0.0002	9.615e-05	0.0002	1.405e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0001	9.903e-05	2.413e-05	0	0.0003	0	0	0.0004	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	530.29	34	chr11	65599519	.	G	GGGGAAGGGGGCGGCTCGGTCGGGC	530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=704;ExcessHet=0;FS=4.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.188;SOR=1.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1188	18	0	1	0
chr11	65620872	65620872	T	G	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon10:c.T2141G:p.V714G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0441600511149	8.1e-05	.	5.186e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs369527002	4.047e-05	4.104e-05	4.289e-05	3.801e-05	5.098e-05	3.175e-05	2.904e-05	4.026e-05	3.618e-05	0	0	0	0	0	0	5.098e-05	1.688e-05	1.222e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	7.35e-05	1.715e-05	1.129e-05	2.847e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.35e-05	0	0	0.115	0.28520	T	0.212	0.26549	T	0.997	0.70673	D	0.878	0.62312	P	.	.	.	.	1	0.81001	D	1.01	0.25309	L	1.51	0.30937	T	-1.99	0.45949	N	0.624	0.63883	-1.0400	0.17313	T	0.120	0.41929	T	9	0.5546903	0.64450	D	0.04416	0.61348	D	0.145	0.38592	.	.	0.784031634265	0.78203	0.7617009105931286	0.76118	.	.	0.68773072958	0.65379	T	0.035334	0.23679	T	-0.161025	0.26603	T	-0.333166	0.41115	T	0.31117707490921	0.25463	T	0.689031	0.29821	T	0.19516511	0.41295	0.1944151	0.43063	0.19516511	0.41294	0.1944151	0.43062	-2.161	0.03855	T	.	.	0.119	0.24363	B	.	.	3.603611	0.50915	23.0	0.9916468278312015	0.54212	0.93939	0.59631	D	AEFGBHCI	0.595476	0.59001	D	0.484517328468643	0.66187	4.917628	0.500712707687852	0.68037	5.165305	0.99999999989778	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	3.791000	0.55173	4.197000	0.42443	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	11.831	0.51572	275	0.89190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1016.33	35	chr11	65620872	.	T	G	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.024;SOR=0.765	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1280	18	0	1	0
chr11	65635410	65635410	A	T	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon31:c.A5146T:p.M1716L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0236708941174	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756154906	1.37e-06	1.368e-06	1.363e-06	1.377e-06	5.979e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.979e-05	0	0	0	0	0	0	0	0	6.575e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	0.303	0.32643	B	0.59	0.50460	P	0.000000	0.84330	D	0.000000	0.976169	0.39252	D	2.36	0.67893	M	0.81	0.48460	T	-2.84	0.59873	D	0.692	0.69737	-0.5993	0.64846	T	0.243	0.61095	T	10	0.6754345	0.70962	D	0.023671	0.46640	T	0.293	0.61272	0.742	0.87401	0.780186799797	0.77816	0.842716801458011	0.84232	.	.	0.818413496017	0.84785	D	0.324439	0.69525	T	0.00571239	0.52440	T	-0.229571	0.51813	T	0.942934572696686	0.61761	D	0.979602	0.93000	D	0.4921587	0.66631	0.48601013	0.70251	0.4921587	0.66632	0.48601013	0.70251	-9.028	0.67877	D	.	.	0.599	0.68834	P	.	.	4.294647	0.65523	24.8	0.98827193332091967	0.46886	0.99743	0.99133	D	AEFDGBIJ	0.908823	0.86465	D	0.349672450303646	0.58724	4.046303	0.378417626223348	0.60237	4.209005	0.99999975676806	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.11	4.11	0.47350	8.601000	0.90647	11.125000	0.86648	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.120	0.47503	275	0.89190	Pecanex, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1473.33	33	chr11	65635410	.	A	T	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=0.805;SOR=0.709	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1383	18	0	1	0
chr11	65641112	65641112	C	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.C191T:p.T64M,SIPA1:NM_153253:exon2:c.C191T:p.T64M	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.556506037117	0.0006	0.000798722	0.0009	0.0003	0.0005	0	0.0009	0.0011	0.0014	0.0014	0.0007633	118	154602	rs200828887	0.0007	0.0007	0.0007	0.0007	0.0050	0.0007	0.0007	0.0036	0.0031	0.0002	0.0004	0.0002	0	0.0004	0.0050	0.0007	0.0010	0.0008	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0001	0	0	0.0002	0.0102	0.0009	0.0009	0.0010	0.005	0.63226	D	0.013	0.63109	D	0.798	0.47902	P	0.197	0.43183	B	0.253200	0.15466	U	0.428407	1	0.08975	N	1.79	0.46772	L	-1.61	0.82254	D	-1.47	0.79829	N	0.262	0.31702	-0.3300	0.74133	T	0.464	0.79290	T	10	0.051036388	0.04923	T	0.556506	0.95933	D	0.238	0.54217	.	.	0.845282700075	0.84380	0.3157718032726202	0.31490	0.902148392747	0.70677	0.816763341427	0.84532	D	0.125064	0.45051	T	-0.255413	0.13442	T	-0.200258	0.54622	T	0.0148980658144745	0.00317	T	0.677032	0.28590	T	0.05558332	0.10820	0.07435434	0.16256	0.05558332	0.10820	0.07435434	0.16256	-6.257	0.48381	T	.	.	0.102	0.21653	B	.;.;.;.	.;.;.;.	3.772668	0.54193	23.5	0.99471782627480054	0.66365	0.17463	0.19848	N	AEFDGBCI	0.301580	0.41006	N	0.11061042244404	0.46958	2.928272	0.105169481324792	0.44812	2.755814	0.99999999637473	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.38	5.38	0.77279	0.679000	0.24971	1.378000	0.26011	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	14.608	0.68093	274	0.89249	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006061	0.005155	0.005450	0.005882	0.000000	0.000000	0.015244	0.000000	0.02632	852.33	33	chr11	65641112	.	C	T	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=679;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.651;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1066	18	0	1	0
chr11	65641237	65641237	G	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.G316T:p.A106S,SIPA1:NM_153253:exon2:c.G316T:p.A106S	.	412	1104	6	0	0	6	0.00271003	.	.	.	724606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0002	0.00678914	0.0031	0	0.0036	0.0290	0.0002	0.0009	0.0022	0.0009	0.0027684	428	154602	rs3741379	0.0017	0.0017	0.0018	0.0017	0.0488	0.0017	0.0017	0.0470	0.0462	2.987e-05	0.0032	0.0028	0.0488	0.0001	0.0010	0.0002	0.0020	0.0010	0.0013	0.0013	0.0012	0.0014	0.0270	0.0011	0.0011	0.0234	0.0220	0.0001	0	0.0008	0.0012	0.0270	0.0002	0	0.0003	0.0024	0.0017	0.888	0.02936	T	0.724	0.05274	T	0.0	0.02946	B	0.001	0.04355	B	0.914232	0.07435	U	1.072180	1	0.08975	N	0.895	0.22405	L	-1.5	0.81318	D	0.08	0.06026	N	0.061	0.03841	-0.9127	0.46518	T	0.068	0.27879	T	10	0.0018219054	0.00024	T	.	.	.	0.163	0.42028	.	.	0.338110398507	0.33423	0.18452731736695727	0.18370	0.559759915972	0.52515	0.464509427547	0.33928	T	0.067588	0.37001	T	-0.568527	0.00226	T	-0.534354	0.18854	T	0.00936351086384048	0.00120	T	0.60234	0.22547	T	0.050319865	0.09072	0.036024895	0.02968	0.050319865	0.09071	0.036024895	0.02968	-4.149	0.26009	T	.	.	0.075	0.05845	B	.;.;.	.;.;.	0.157044	0.05482	1.949	0.94820901500658761	0.25591	0.05466	0.11346	N	AEFDGBCI	0.097573	0.19676	N	-1.20183191334562	0.04973	0.2256599	-1.20453069710389	0.05836	0.279234	0.999999986783029	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.688494	0.62686	0	0.735409	0.98432	0	.	.	5.05	-5.2	0.02608	-0.309000	0.08185	0.523000	0.19181	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.6539:0.0:0.1255:0.2206	7.311	0.25649	274	0.89249	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1325.33	33	chr11	65641237	.	G	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.763;DP=730;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.535;SOR=0.861	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1066	18	0	1	0
chr11	65794087	65794087	G	A	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.G157A:p.E53K	.	426	1088	6	2	0	10	0.00457457	.	.	.	2813359	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0127998407463	0.0002	0.00199681	0.0007	0	0.0010	0	0	0.0002	0	0.0040	0.0006533	101	154602	rs201370492	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0030	0.0001	0.0006	0	2.519e-05	0	0.0049	0.0001	0.0003	0.0034	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	2.406e-05	0	0.0013	0	0	0	0	0.0002	0	0.0052	0.065	0.36310	T	0.589	0.08245	T	0.955	0.54515	P	0.153	0.34292	B	0.050515	0.23064	N	0.365437	0.999996	0.58761	D	1.5	0.37844	L	3.08	0.08460	T	-0.94	0.25118	N	0.315	0.35514	-0.8553	0.51599	T	0.008	0.02760	T	10	0.00543198	0.00120	T	0.013	0.31686	T	0.057	0.16321	.	.	0.450506546316	0.44672	0.24423874313641314	0.24337	0.745069764327	0.63466	0.631929337978	0.57418	T	0.297516	0.67011	T	-0.491132	0.00641	T	-0.480675	0.24375	T	0.0275474677482568	0.01622	T	0.825917	0.48908	T	0.14914887	0.34016	0.11708981	0.28266	0.14914887	0.34016	0.11708981	0.28265	-4.98	0.36622	T	.	.	0.228	0.46013	B	.	.	4.444589	0.69033	25.3	0.9963349656335091	0.76203	0.54748	0.29692	D	AEFDBI	0.185198	0.31253	N	0.061059605862301	0.44653	2.735408	0.159425875071339	0.47643	2.992	0.999996726975471	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	2.309000	0.43359	11.817000	0.97118	0.676000	0.76740	0.725000	0.28872	1.000000	0.68203	0.782000	0.36987	0.0:0.0:1.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.017544	0.000000	0.008621	0.003049	0.003788	0.02632	1928.33	43	chr11	65794087	.	G	A	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.586;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	18	0	1	0
chr11	65794101	65794101	C	G	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C171G:p.C57W	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0116529228944	.	0.000599042	0.0005	0	0	0	0	0	0	0.0034	0.0003816	59	154602	rs546254917	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	5.974e-05	0	0	2.519e-05	0	0.0009	4.317e-05	0.0002	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.698e-05	0.0019	0.0015	0	0	0	0	0	0	0	7.349e-05	0.0005	0.0031	0.012	0.54683	D	0.034	0.52727	D	0.997	0.70673	D	0.844	0.60373	P	0.098413	0.19982	N	0.480672	0.999138	0.81001	D	2.08	0.57402	M	3.09	0.08371	T	-2.23	0.50012	N	0.525	0.55453	-0.9858	0.33639	T	0.021	0.08870	T	10	0.0058167577	0.00130	T	0.011653	0.29486	T	0.122	0.33800	0.204	0.11936	0.28494636882	0.28116	0.35929546065666407	0.35843	1.20699924719	0.80728	0.620200097561	0.55757	T	0.507328	0.82512	D	-0.489255	0.00656	T	-0.475839	0.24890	T	0.0897866894625359	0.11193	T	0.662434	0.27137	T	0.294753	0.52430	0.1815004	0.41018	0.294753	0.52430	0.1815004	0.41017	-5.25	0.39445	T	.	.	0.492	0.64206	A	.	.	2.731845	0.35759	19.98	0.98941740500311126	0.48959	0.64676	0.32485	D	AEFDBI	0.706286	0.66140	D	-0.00721069881489632	0.41528	2.485592	-0.0277718871503972	0.38465	2.266634	0.999901048747032	0.45458	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	1.99	0.25423	-1.116000	0.03397	0.220000	0.16063	0.599000	0.40250	0.000000	0.06391	0.969000	0.29651	0.977000	0.56843	0.0:0.7196:0.0:0.2804	7.712	0.27851	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1752.33	43	chr11	65794101	.	C	G	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.49;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	18	0	1	0
chr11	65794103	65794103	C	T	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C173T:p.P58L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0072	0.00299521	0.0070	0.0019	0.0015	0	0.0209	0.0095	0.0044	0.0024	0.0069469	1074	154602	rs138566993	0.0087	0.0087	0.0089	0.0085	0.0097	0.0086	0.0085	0.0095	0.0095	0.0016	0.0020	0.0070	0	0.0187	0.0012	0.0097	0.0073	0.0022	0.0071	0.0071	0.0068	0.0075	0.0095	0.0068	0.0066	0.0089	0.0086	0.0021	0.0175	0.0039	0.0092	0	0.0210	0	0.0095	0.0033	0.0031	0.23	0.18308	T	0.612	0.07642	T	0.688	0.41582	P	0.06	0.26717	B	0.774250	0.09522	N	0.889866	0.997695	0.81001	D	1.12	0.28775	L	3.05	0.08721	T	-1.76	0.41618	N	0.357	0.39861	-0.8067	0.54748	T	0.009	0.03011	T	10	0.0062689483	0.00141	T	.	.	.	0.086	0.25016	.	.	0.268702046668	0.26493	0.2964091917468648	0.29553	0.723791739799	0.62348	0.475216776133	0.35399	T	0.250052	0.62010	T	-0.537676	0.00346	T	-0.535716	0.18720	T	0.0205320315047869	0.00753	T	0.809319	0.45944	T	0.1111093	0.26259	0.076571114	0.16973	0.1111093	0.26259	0.076571114	0.16973	-5.38	0.40726	T	.	.	0.195	0.41602	B	.	.	2.909202	0.38583	20.8	0.98599190064023634	0.43480	0.34389	0.25055	N	AEFDBI	0.189468	0.31672	N	-0.147318238223708	0.35349	2.029263	-0.0220238939359916	0.38722	2.285467	0.99999150197498	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	1.045000	0.29951	7.653000	0.63809	0.599000	0.40250	0.003000	0.16062	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	rs138566993	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1825.33	43	chr11	65794103	.	C	T	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=862;ExcessHet=0;FS=5.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.582;SOR=0.378	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	18	0	1	0
chr11	65860785	65860785	G	A	exonic	MUS81	.	nonsynonymous SNV	MUS81:NM_001350283:exon1:c.G32A:p.R11H,MUS81:NM_025128:exon1:c.G32A:p.R11H	.	395	1125	1	1	0	3	0.00133156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.130855055424	.	.	0.0005	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs768885045	4.547e-05	5.13e-05	1.567e-05	7.606e-05	0.0008	3.632e-05	3.301e-05	0.0006	0.0005	0	0	0	0	0	0	2.782e-06	0	0.0008	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	0.84	0.47477	T	-3.16	0.64246	D	0.305	0.34444	-0.5240	0.67767	T	0.283	0.65518	T	10	0.19619048	0.35501	T	0.130855	0.81305	D	0.112	0.31546	0.297	0.26202	0.701989571725	0.69940	0.6122176122001229	0.61153	2.17994158053	0.95564	0.793460190296	0.80969	T	0.103102	0.54426	T	-0.274698	0.11238	T	-0.251634	0.49656	T	0.725232601165771	0.41965	D	0.940606	0.77652	D	0.3777465	0.59153	0.5044754	0.71357	0.3777465	0.59153	0.5044754	0.71358	-8.759	0.66132	D	.	.	0.400	0.59555	A	.;.	.;.	5.383271	0.90209	31	0.99932189753617684	0.99439	0.79290	0.39262	D	ALL	0.723694	0.67323	D	0.659942392492967	0.77015	6.593833	0.625748971799916	0.76816	6.561143	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	5.084000	0.64294	11.585000	0.93367	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.329000	0.25179	0.0:0.0:1.0:0.0	14.845	0.69884	237	0.90758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	38	chr11	65860785	.	G	A	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.33;SOR=0.665	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr11	65893113	65893113	G	A	exonic	FOSL1	.	nonsynonymous SNV	FOSL1:NM_001300857:exon2:c.C283T:p.R95C,FOSL1:NM_001300844:exon3:c.C481T:p.R161C,FOSL1:NM_001300856:exon3:c.C391T:p.R131C,FOSL1:NM_005438:exon4:c.C589T:p.R197C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0205814981605	0.0013	0.000199681	0.0009	9.794e-05	0.0004	0	0.0002	0.0013	0	0.0006	0.0008797	136	154602	rs139675472	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0006	0	0	5.62e-05	0.0006	0.0019	0.0010	0.0006	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0010	0	0	9.414e-05	0	0.0015	0.0005	0.0008	0.059	0.37536	T	0.009	0.66756	D	0.0	0.02946	B	0.0	0.01387	B	0.476120	0.04954	N	1.271600	0.932387	0.37020	D	1.59	0.40313	L	-1.11	0.77466	T	-2.53	0.54864	D	0.12	0.20660	-0.7815	0.56218	T	0.325	0.69367	T	10	0.019506037	0.00436	T	0.020581	0.43203	T	0.200	0.48430	.	.	0.670669281473	0.66789	0.3038721835377033	0.30300	0.1303486935	0.14704	0.329323798418	0.14831	T	0.748801	0.93100	D	-0.445645	0.01198	T	-0.426145	0.30375	T	0.0436398491493387	0.04355	T	0.784422	0.47860	T	0.084152944	0.19464	0.073041864	0.15826	0.084152944	0.19464	0.073041864	0.15826	-4.001	0.42637	T	.	.	0.085	0.10208	B	.;.;.	.;.;.	2.789720	0.36664	20.3	0.97426322074737948	0.33900	0.63239	0.32028	D	AEFBHCI	0.507046	0.53751	D	-0.752023982197722	0.14578	0.7273798	-0.714683913267179	0.16596	0.8786545	0.999991893786144	0.74766	0.542737	0.22433	0	0.484254	0.07192	0	0.26897	0.05253	2	0.638787	0.57140	0	.	.	5.2	0.113	0.13937	0.741000	0.25870	2.290000	0.31953	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.344:0.1506:0.5055:0.0	4.670	0.12066	237	0.90758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	324.33	33	chr11	65893113	.	G	A	324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=628;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.438;SOR=1.802	GT:AD:DP:GQ:PL	0/1:14,11:25:99:338,0,349	18	0	1	0
chr11	65962042	65962042	C	G	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon1:c.C262G:p.P88A	.	378	1101	40	3	0	46	0.0204626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0014	0.00319489	0.0170	0.0030	0.0357	0	.	0.0221	0	0.0162	0.0016235	251	154602	rs200247501	0.0061	0.0058	0.0058	0.0065	0.0165	0.0060	0.0060	0.0157	0.0154	0.0009	0.0022	0.0224	0	0.0009	0.0139	0.0056	0.0067	0.0165	0.0044	0.0044	0.0046	0.0041	0.0147	0.0041	0.0040	0.0120	0.0110	0.0011	0	0.0026	0.0286	0	0.0007	0.0068	0.0057	0.0067	0.0147	0.033	0.44358	D	0.708	0.05563	T	0.557	0.38282	P	0.31	0.41396	B	0.000043	0.53742	D	0.074589	0.78246	0.34284	D	0.345	0.11182	N	1.88	0.23884	T	-1.47	0.35991	N	0.147	0.14905	-0.9705	0.37094	T	0.059	0.24612	T	10	0.0041353405	0.00081	T	.	.	.	0.096	0.27654	.	.	0.394236971158	0.39037	0.16397195523323133	0.16317	1.36751619527	0.84468	0.82925593853	0.86448	D	0.018581	0.14954	T	-0.475857	0.00782	T	-0.443988	0.28361	T	0.0257445643164212	0.01371	T	0.693931	0.30359	T	0.1616277	0.36185	0.08255757	0.18852	0.1616277	0.36185	0.08255757	0.18852	-3.592	0.17742	T	.	.	0.051	0.00187	B	.	.	2.156030	0.27469	17.47	0.99168744947273746	0.54326	0.39653	0.26261	N	AEFDGBHCI	0.055179	0.10095	N	-0.101039697550983	0.37347	2.171556	-0.0787453825877827	0.36269	2.108645	0.999999999991621	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.12	3.19	0.35720	0.448000	0.21443	0.618000	0.20101	0.524000	0.24156	0.995000	0.38783	0.998000	0.33993	0.986000	0.61781	0.2209:0.7791:0.0:0.0	8.988	0.35169	229	0.91079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015652	0.000000	0.003289	0.008000	0.000000	0.016667	0.024752	0.033333	0.02632	248.34	9	chr11	65962042	.	C	G	248.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=381;ExcessHet=0;FS=3.992;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.77;SOR=1.911	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	18	0	1	0
chr11	66021520	66021520	G	A	exonic	CATSPER1	.	nonsynonymous SNV	CATSPER1:NM_053054:exon4:c.C1667T:p.A556V	Spermatogenic failure 7, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.115719938219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.0	0.92824	D	0.569	0.38523	P	0.743	0.55802	P	0.005227	0.32979	U	0.000000	0.961134	0.26119	N	0.975	0.24501	L	-4.65	0.97938	D	-1.99	0.45949	N	0.318	0.35832	0.537	0.91064	D	0.892	0.96418	D	10	0.5128972	0.62200	D	0.11572	0.79498	D	0.622	0.85354	0.63	0.76588	0.951954391788	0.95144	0.7179642290769719	0.71739	0.936858248025	0.72051	0.541354954243	0.44637	T	0.387933	0.74873	T	0.16614	0.70769	D	0.000871725	0.70393	D	0.916973054409027	0.57462	D	0.671933	0.28057	T	0.11442323	0.27012	0.17749643	0.40355	0.11442323	0.27012	0.17749643	0.40354	-8.456	0.64137	D	.	.	0.219	0.44898	B	.	.	4.332449	0.66395	25.0	0.99886568343912352	0.96126	0.77861	0.38334	D	AEFDGBI	0.269357	0.38565	N	0.0618818927737443	0.44691	2.738553	0.0987206763164578	0.44484	2.729337	0.999999603663635	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.591603	0.36755	0	.	.	4.99	4.06	0.46572	3.312000	0.51637	2.479000	0.32931	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.237000	0.22922	0.0:0.1836:0.8164:0.0	11.355	0.48848	207	0.91931	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	762.33	36	chr11	66021520	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.73;DP=735;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=0.887;SOR=0.873	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1170	18	0	1	0
chr11	66042803	66042803	G	A	exonic	GAL3ST3	.	nonsynonymous SNV	GAL3ST3:NM_033036:exon3:c.C1000T:p.R334C	.	.	.	.	.	.	.	.	.	.	.	3977562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0810981980221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219605821	1.545e-06	3.42e-06	1.514e-06	1.578e-06	.	2.6e-07	1e-07	.	.	0	0	0	0	0	0	0	3.727e-05	0	1.999e-05	1.971e-05	3.905e-05	0	7.289e-05	5.31e-06	2.47e-06	1.933e-05	1.036e-05	7.289e-05	0	0	0	0	0	0	0	0	0	0.206	0.19927	T	0.173	0.30143	T	0.478	0.36706	P	0.26	0.39460	B	0.000193	0.48115	D	0.140827	0.998311	0.44758	D	2.195	0.61839	M	2.46	0.14907	T	-0.56	0.17003	N	0.372	0.46555	-1.1172	0.02517	T	0.045	0.19478	T	10	0.20115563	0.36189	T	0.081098	0.73608	D	0.088	0.25558	0.547	0.66156	0.502815669512	0.49917	0.5439152780621114	0.54317	1.9606362905	0.93449	0.917391180992	0.98118	D	0.081605	0.36636	T	-0.157929	0.27078	T	-0.464631	0.26097	T	0.884780585765839	0.53504	D	0.863414	0.55914	D	0.39612108	0.60463	0.19415185	0.43022	0.39612108	0.60464	0.19415185	0.43021	-8.372	0.63578	D	.	.	0.447	0.62053	A	.;.	.;.	3.603643	0.50915	23.0	0.99785157309491834	0.87131	0.32131	0.24510	N	AEFDBI	0.336701	0.43474	N	-0.241030236352171	0.31463	1.764456	-0.251418327094171	0.29722	1.667548	0.999906072986319	0.45458	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.35	3.42	0.38259	0.760000	0.26140	3.088000	0.36267	0.522000	0.23927	0.053000	0.21524	0.985000	0.30750	0.608000	0.31589	0.0:0.0:0.6336:0.3664	9.953	0.40819	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	586.33	33	chr11	66042803	.	G	A	586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.08;DP=641;ExcessHet=0;FS=2.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=1.02;SOR=1.27	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1502	18	0	1	0
chr11	66070569	66070569	C	G	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon1:c.C83G:p.S28C	Schuurs-Hoeijmakers syndrome, Autosomal dominant	385	1136	1	0	0	1	0.000439947	.	.	.	207888	not_specified|Inborn_genetic_diseases|PACS1-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.1477733243	.	.	0.0026	0	0	0	0	0	0	0.0037	0.0001552	24	154602	rs763294619	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	3.726e-05	0	0	3.488e-05	0	0.0007	4.366e-05	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0031	8.198e-05	6.749e-05	0.0019	0.0016	0	0	0	0	0	0	0	4.429e-05	0.0005	0.0031	0.0	0.91255	D	0.085	0.41074	T	0.9	0.49598	P	0.089	0.29769	B	0.112124	0.19371	N	0.277584	0.986256	0.24634	N	0.895	0.22405	L	1.88	0.23884	T	-0.27	0.11366	N	0.236	0.26596	-1.0977	0.04380	T	0.045	0.19234	T	10	0.008917958	0.00202	T	0.147773	0.82976	D	0.053	0.14996	0.188	0.09776	0.151262610727	0.14761	0.17392962500123596	0.17312	1.36435413803	0.84409	0.914445996284	0.97872	D	0.022775	0.17502	T	-0.462334	0.00951	T	-0.439623	0.28852	T	0.191782791393195	0.19949	T	0.484552	0.14745	T	0.24131316	0.47045	0.2851111	0.54512	0.24131316	0.47045	0.2851111	0.54511	-7.557	0.58010	D	.	.	0.137	0.29779	B	.	.	3.490317	0.48778	22.7	0.96282798081611931	0.29286	0.29298	0.23785	N	AEFDGBHCI	0.075207	0.15097	N	-0.23768387067811	0.31598	1.77339	-0.245793043928377	0.29917	1.68003	0.999999952709011	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	2.94	2.94	0.33188	2.935000	0.48657	5.213000	0.47973	0.219000	0.18061	0.469000	0.26714	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	9.466	0.37980	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007752	0.05263	574.83	35	chr11	66070569	.	C	G	574.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.98;DP=464;ExcessHet=0.119;FS=6.032;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.704;SOR=1.569	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,663	17	0	2	0
chr11	66295417	66295417	C	T	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.C1171T:p.P391S	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0003	.	0.0076	0	0	0	0	0.0320	0.0135	0.0002	0.0007568	117	154602	rs373152395	0.0015	0.0015	0.0014	0.0016	0.0053	0.0014	0.0014	0.0035	0.0030	0.0003	0.0009	0.0441	0	2.145e-05	0.0053	0.0007	0.0040	0.0004	0.0016	0.0016	0.0018	0.0014	0.0012	0.0014	0.0014	0.0008	0.0007	0.0001	0	0.0012	0.0428	0	0	0.0103	0.0008	0.0057	0.0004	1.0	0.00964	T	0.791	0.04181	T	0.001	0.07471	B	0.007	0.12992	B	0.000096	0.51296	D	0.080949	0.628332	0.32767	D	-1.545	0.00469	N	.	.	.	0.52	0.02853	N	0.039	0.01274	-1.0178	0.24431	T	0.049	0.21065	T	9	0.0018358827	0.00025	T	.	.	.	0.082	0.23913	.	.	0.043077524339	0.03247	0.2910298125544627	0.29015	.	.	0.801923394203	0.82255	T	0.003866	0.03272	T	-0.524435	0.00414	T	-0.566624	0.15760	T	0.00780754122038952	0.00091	T	0.60024	0.22396	T	0.05096164	0.09288	0.08535057	0.19699	0.05096164	0.09287	0.08535057	0.19699	-3.672	0.18905	T	.	.	0.070	0.03625	B	.	.	1.608451	0.20553	14.80	0.60321797752222273	0.06435	0.94879	0.62647	D	AEFDBI	0.142096	0.26445	N	-0.429916054685299	0.24426	1.318801	-0.235570229536928	0.30272	1.703003	0.992884438820962	0.33004	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.87	3.87	0.43823	2.878000	0.48213	3.796000	0.39849	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.915000	0.45038	0.0:0.7788:0.0:0.2212	5.829	0.17824	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004902	0.005952	0.007485	0.000000	0.000000	0.000000	0.006667	0.000000	0.02632	682.34	34	chr11	66295417	.	C	T	682.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=525;ExcessHet=0;FS=2.709;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=2.22;SOR=1.23	GT:AD:DP:GQ:PL	0/1:20,21:41:99:696,0,523	18	0	1	0
chr11	66315700	66315702	GAG	-	exonic	CD248	.	nonframeshift deletion	CD248:NM_020404:exon1:c.1326_1328del:p.S443del	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0044	9.619e-05	0.0178	0.0300	0.0002	0.0008	0.0011	0.0010	0.0004995	13	26028	rs3832786	0.0017	0.0017	0.0017	0.0017	0.0339	0.0016	0.0016	0.0324	0.0318	8.964e-05	0.0132	0.0012	0.0339	0.0001	0.0014	0.0002	0.0016	0.0013	0.0018	0.0018	0.0016	0.0019	0.0281	0.0016	0.0015	0.0244	0.0230	0.0002	0	0.0050	0.0003	0.0281	0.0002	0	0.0003	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	691.29	33	chr11	66315699	.	TGAG	T	691.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=936;ExcessHet=0;FS=6.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.53;SOR=1.586	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,117,1800	18	0	1	0
chr11	66332317	66332317	C	T	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon10:c.G2227A:p.G743R,RIN1:NM_001363560:exon10:c.G2125A:p.G709R,RIN1:NM_004292:exon10:c.G2311A:p.G771R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00710743652161	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs747902529	1.368e-05	1.368e-05	9.529e-06	1.788e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.311e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.431	0.09866	T	0.897	0.03223	T	0.001	0.07471	B	0.0	0.01387	B	0.029505	0.01704	N	2.719210	1	0.19363	N	0.255	0.09829	N	3.2	0.12988	T	-0.64	0.18670	N	0.067	0.15749	-1.0142	0.25593	T	0.018	0.07612	T	10	0.033011496	0.01466	T	0.007107	0.18841	T	0.019	0.03383	0.161	0.06507	0.137902524267	0.13322	0.045113000013523155	0.04455	0.737707930664	0.63074	0.286919772625	0.08476	T	0.121428	0.44437	T	-0.541565	0.00328	T	-0.719505	0.04819	T	0.103139874634945	0.12699	T	0.644436	0.25592	T	0.034698047	0.03943	0.027223982	0.00861	0.034698047	0.03943	0.027223982	0.00860	-4.261	0.27627	T	.	.	0.081	0.09481	B	.;.	.;.	2.154905	0.27447	17.47	0.99460425101190719	0.65788	0.04022	0.09455	N	AEFDBI	0.032295	0.03618	N	-1.10035587429448	0.06638	0.3061148	-1.08478769345303	0.07999	0.3914287	0.997205271388731	0.35373	0.732398	0.92422	0	0.588066	0.40923	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.14	-0.275	0.12268	-0.113000	0.10745	1.122000	0.24252	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.046000	0.14843	0.1756:0.4958:0.0:0.3287	3.500	0.07231	63	0.97314	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1211.33	34	chr11	66332317	.	C	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.778;DP=726;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.757;SOR=0.816	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1203	18	0	1	0
chr11	66336090	66336090	G	A	exonic	RIN1	.	nonsynonymous SNV	RIN1:NM_001363559:exon2:c.C71T:p.P24L,RIN1:NM_001363560:exon2:c.C155T:p.P52L,RIN1:NM_004292:exon2:c.C155T:p.P52L	.	410	1105	7	0	0	7	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0002	0.000798722	0.0109	0	0	0	0	0.0029	0	0.0247	0.0007697	119	154602	rs371199660	0.0050	0.0047	0.0049	0.0050	0.0055	0.0049	0.0048	0.0054	0.0053	0.0007	0.0008	0.0006	2.903e-05	0.0064	0.0015	0.0055	0.0028	0.0053	0.0034	0.0034	0.0032	0.0036	0.0052	0.0032	0.0031	0.0048	0.0046	0.0007	0	0.0014	0.0006	0	0.0090	0	0.0052	0.0005	0.0033	0.111	0.29029	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.003226	0.35241	N	0.110360	0.999557	0.81001	D	1.64	0.41913	L	2.94	0.09728	T	0.35	0.03761	N	0.396	0.43706	-1.1432	0.01243	T	0.046	0.19879	T	9	0.0075613856	0.00172	T	.	.	.	0.183	0.45592	.	.	0.399596177874	0.39575	0.3802928041414899	0.37944	0.256483883154	0.28223	0.664591312408	0.62065	T	0.214839	0.57654	T	-0.51843	0.00449	T	-0.516236	0.20678	T	0.0472703351430132	0.05014	T	0.80082	0.44648	T	0.053354707	0.10085	0.10070237	0.24085	0.053354707	0.10084	0.10070237	0.24085	-3.717	0.19569	T	.	.	0.097	0.15877	B	.	.	3.521967	0.49371	22.8	0.99394596498635646	0.62519	0.57728	0.30453	D	AEFDGBCIJ	0.732977	0.67956	D	0.122161023152091	0.47497	2.974699	-0.0274430851574767	0.38479	2.267707	0.999999999999094	0.74766	0.455138	0.09556	0	0.48864	0.07623	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	3.34	3.34	0.37357	2.598000	0.45887	8.295000	0.76923	0.676000	0.76740	0.397000	0.26145	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	10.357	0.43154	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001124	0.000000	0.000000	0.000000	0.000000	0.000000	0.006849	0.008929	0.02632	703.33	43	chr11	66336090	.	G	A	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=728;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=1.84;SOR=0.421	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G,SLC29A2:NM_001300868:exon5:c.A154G:p.R52G,SLC29A2:NM_001300869:exon5:c.A154G:p.R52G	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005589	0.000000	0.002725	0.000000	0.000000	0.008621	0.012346	0.015385	0.02632	694.33	34	chr11	66369490	.	T	C	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.352;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.262;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	66497409	66497409	C	T	exonic	DPP3	.	nonsynonymous SNV	DPP3:NM_001256670:exon15:c.C1720T:p.R574C,DPP3:NM_005700:exon16:c.C1810T:p.R604C,DPP3:NM_130443:exon16:c.C1810T:p.R604C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0003	0.000798722	0.0018	0	0	0	0.0186	0.0013	0.0078	0	0.0014553	225	154602	rs150300932	0.0008	0.0008	0.0008	0.0008	9.263e-05	0.0007	0.0007	7.773e-05	7.258e-05	0	0	0	0	0.0183	0	9.263e-05	0.0011	1.16e-05	0.0016	0.0016	0.0008	0.0023	0.0002	0.0014	0.0013	0.0002	0.0001	0	0	0	0	0.0002	0.0205	0	0.0002	0.0005	0	0.022	0.48642	D	0.167	0.30926	T	0.006	0.13644	B	0.003	0.12133	B	0.033442	0.24896	N	0.453439	0.997021	0.43577	D	1.995	0.54099	M	1.89	0.23688	T	-1.85	0.43334	N	0.43	0.48134	-1.0876	0.05943	T	0.033	0.14334	T	10	0.011529863	0.00251	T	.	.	.	0.121	0.33580	.	.	0.378148810121	0.37422	0.5424803913551726	0.54173	.	.	0.267371237278	0.05800	T	0.070251	0.58695	T	-0.426436	0.01558	T	-0.420701	0.30996	T	0.078639469379953	0.09812	T	0.816218	0.49484	T	0.08605605	0.19988	0.06417422	0.12823	0.08605605	0.19988	0.06417422	0.12823	-7.343	0.57434	T	.	.	0.087	0.12560	B	.;.;.;.	.;.;.;.	3.873622	0.56256	23.7	0.99444116464083365	0.64921	0.80180	0.39887	D	AEFGBI	0.237510	0.35978	N	-0.323725454014809	0.28249	1.556585	-0.158655005356118	0.33077	1.88831	0.0763617271410553	0.15725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	3.99	0.45527	2.061000	0.41030	2.735000	0.34419	-0.841000	0.02792	0.999000	0.42656	0.988000	0.31051	0.741000	0.35472	0.1578:0.68:0.0:0.1622	5.612	0.16692	55	0.97548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	34	chr11	66497409	.	C	T	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=699;ExcessHet=0;FS=4.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.299;SOR=0.333	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr11	66515549	66515549	G	A	exonic	BBS1	.	nonsynonymous SNV	BBS1:NM_024649:exon5:c.G442A:p.D148N	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive	4	1517	1	0	0	1	0.000329489	.	.	YES	640363	not_provided|BBS1-related_disorder|Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome	MedGen:C3661900|.|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.188629795649	.	0.00119808	0.0003	0	0	0	0	1.499e-05	0.0011	0.0022	0.0002846	44	154602	rs200688985	0.0002	0.0002	8.984e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	5.038e-05	0	0	2.158e-05	9.935e-05	0.0023	0.0001	0.0001	3.857e-05	0.0002	0.0027	6.511e-05	5.322e-05	0.0016	0.0013	2.408e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0027	0.059	0.37536	T	0.074	0.92824	T	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.999999	0.81001	D	2.125	0.59049	M	-2.63	0.90083	D	-2.57	0.57110	D	0.328	0.38232	0.535	0.91031	D	0.775	0.92363	D	9	0.019747227	0.00445	T	0.18863	0.86013	D	0.520	0.79583	.	.	0.940085781844	0.93946	0.39826861741265235	0.39741	0.598451192957	0.56487	0.558984160423	0.47125	T	0.776773	0.94071	D	-0.332064	0.05956	T	-0.255621	0.49260	T	0.143794432760841	0.16597	T	0.884712	0.60854	D	0.09663092	0.22764	0.08473048	0.19514	0.09663092	0.22764	0.08473048	0.19513	-4.094	0.27994	T	0.21063055517451096	0.28224	0.147	0.40295	B	.;.;.;.;.	.;.;.;.;.	3.948492	0.57831	23.9	0.99622164983078232	0.75473	0.97183	0.73178	D	AEFDBI	0.551153	0.56334	D	0.219464113040687	0.52143	3.390407	0.145581991900104	0.46910	2.929273	0.744591249279758	0.23265	0.706548	0.73137	0	0.577304	0.33150	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	4.34	0.51267	6.325000	0.72861	9.755000	0.81488	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0865:0.0:0.9135:0.0	11.670	0.50655	56	0.97520	.;Bardet-Biedl syndrome 1, N-terminal;Bardet-Biedl syndrome 1, N-terminal;.;Bardet-Biedl syndrome 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2578.33	43	chr11	66515549	.	G	A	2578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.225;DP=953;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.69;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1357	18	0	1	0
chr11	66555362	66555362	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon7:c.C713T:p.A238V,ACTN3:NM_001258371:exon7:c.C842T:p.A281V	.	296	1199	25	2	0	29	0.0119489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	0.00359425	0.0068	0.0025	0.0043	0	0.0009	0.0099	0.0066	0.0046	0.0069404	1073	154602	rs144340728	0.0084	0.0084	0.0084	0.0083	0.0163	0.0083	0.0082	0.0136	0.0126	0.0016	0.0050	0.0205	0	0.0016	0.0163	0.0094	0.0086	0.0040	0.0064	0.0064	0.0068	0.0060	0.0097	0.0061	0.0060	0.0091	0.0089	0.0019	0.0033	0.0074	0.0222	0	0.0007	0.0102	0.0097	0.0066	0.0037	.	.	.	0.859	0.10429	T	0.416	0.35222	B	0.312	0.41466	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	0.013723195	0.00290	T	.	.	.	.	.	.	.	0.618057396677	0.61496	0.6843920444954242	0.68378	.	.	0.745128154755	0.73728	T	0.384957	0.93084	T	0.0370574	0.56659	T	0.294734	0.87949	D	.	.	.	0.975469	0.91344	D	0.26528773	0.49597	0.43358165	0.66906	0.26528773	0.49597	0.43358165	0.66906	-9.369	0.70041	D	.	.	0.252	0.56959	B	.;.	.;.	4.469163	0.69627	25.4	0.99661219910328513	0.77947	0.98007	0.78823	D	AEFDBI	0.924860	0.90353	D	.	.	.	.	.	.	0.999999002257923	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.69	4.69	0.58546	7.844000	0.85149	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.190	0.72721	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	rs144340728	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.005051	0.028533	0.020468	0.000000	0.017241	0.012195	0.003788	0.02632	2180.33	40	chr11	66555362	.	C	T	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.174;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.349;SOR=0.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	66557741	66557741	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon10:c.C940T:p.R314C,ACTN3:NM_001258371:exon10:c.C1069T:p.R357C	.	61	1446	14	1	0	16	0.00550206	.	.	.	2813380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0017	0.0001	0.0002	0	0	0.0002	0.0039	0.0114	0.001326	205	154602	rs200574979	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0093	0.0091	0.0002	6.721e-05	0	2.521e-05	0	0.0033	8.995e-05	0.0007	0.0099	0.0004	0.0004	0.0003	0.0005	0.0100	0.0004	0.0003	0.0077	0.0069	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0100	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	0.024686664	0.00688	T	.	.	.	.	.	.	.	0.643721901085	0.64077	0.6907061601940923	0.69010	.	.	0.655592679977	0.60780	T	0.510415	0.82680	D	0.0220035	0.54652	T	0.265511	0.86352	D	.	.	.	0.99685	0.98806	D	0.16444573	0.36653	0.24900775	0.50463	0.16444573	0.36653	0.24900775	0.50462	-9.76	0.72462	D	.	.	0.285	0.60378	B	.;.	.;.	4.754785	0.76815	26.6	0.99939431137062129	0.99734	0.93766	0.59130	D	AEFDGBI	0.781326	0.71294	D	.	.	.	.	.	.	0.981173956377792	0.30228	0.295142	0.05270	0	0.097471	0.02872	0	0.343423	0.05949	0	0.109499	0.03221	0	.	.	4.53	4.53	0.55009	3.287000	0.51438	4.932000	0.46138	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2028:0.7971:0.0:0.0	9.930	0.40686	59	0.97452	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1842.33	34	chr11	66557741	.	C	T	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=764;ExcessHet=0;FS=6.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.699;SOR=1.265	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	18	0	1	0
chr11	66591701	66591701	C	T	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G1315A:p.V439I	.	426	1094	2	0	0	2	0.000913242	.	.	.	2344668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00320098348409	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143106957	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	8.968e-05	0.0004	3.829e-05	0	0	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0	0.321	0.13522	T	0.22	0.25907	T	0.004	0.12183	B	0.005	0.11217	B	0.468410	0.04912	N	1.398570	1	0.08975	N	1.5	0.37844	L	1.47	0.31987	T	-0.33	0.12472	N	0.066	0.03841	-1.0004	0.29803	T	0.060	0.24981	T	10	0.022217035	0.00549	T	0.003201	0.07026	T	0.010	0.01040	.	.	0.17948927462	0.17512	0.05560351241801656	0.05501	0.111153288707	0.12538	0.290364086628	0.08976	T	0.009059	0.08271	T	-0.600254	0.00145	T	-0.743622	0.03740	T	0.0114834506869783	0.00173	T	0.435056	0.11905	T	0.029857267	0.02551	0.026878115	0.00803	0.029857267	0.02550	0.026878115	0.00803	-4.148	0.25995	T	.	.	0.093	0.13969	B	.	.	0.180545	0.05683	2.129	0.914081289628211	0.20675	0.01163	0.04190	N	AEFBI	0.040218	0.05950	N	-0.863282496923156	0.11724	0.5674002	-0.895363960527544	0.12203	0.6263561	0.999713398045902	0.42101	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	-1.72	0.07671	0.100000	0.15067	-0.756000	0.07556	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.0:0.2971:0.1738:0.5291	5.615	0.16706	61	0.97388	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1507.33	41	chr11	66591701	.	C	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.06;DP=805;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=2.07;SOR=0.81	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr11	66599488	66599488	G	A	exonic	CCS	.	nonsynonymous SNV	CCS:NM_005125:exon4:c.G280A:p.G94R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.108864898278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.155e-07	1.368e-06	0	1.448e-06	2.608e-05	0	0	.	.	0	0	0	2.608e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.292	0.20877	T	0.31	0.32798	B	0.123	0.32463	B	0.113761	0.19303	N	0.563043	0.896714	0.28192	N	0.335	0.10427	N	-6.03	0.99497	D	-2.43	0.53258	N	0.269	0.30461	0.740	0.93667	D	0.902	0.96735	D	10	0.29310113	0.46885	T	0.108865	0.78559	D	0.398	0.71242	0.614	0.74768	0.943378736377	0.94279	0.5626494622011682	0.56191	0.367662693662	0.38331	0.459764808416	0.33277	T	0.330623	0.70079	T	0.0696124	0.60801	D	-0.137783	0.60309	T	0.291108129713143	0.24636	T	0.950705	0.81652	D	0.14935452	0.34053	0.07692328	0.17085	0.14935452	0.34053	0.07692328	0.17084	-7.226	0.55668	T	.	.	0.153	0.33958	B	.;.	.;.	2.616096	0.33986	19.50	0.9168228197546977	0.20974	0.77598	0.38172	D	AEFBI	0.553157	0.56453	D	-0.307626492570936	0.28858	1.595262	-0.20003160756683	0.31536	1.785636	0.750397750656459	0.23351	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	1.709000	0.37528	9.903000	0.82365	0.676000	0.76740	0.796000	0.29669	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	14.164	0.65000	62	0.97349	Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	599.33	36	chr11	66599488	.	G	A	599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.156;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-1.309;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	18	0	1	0
chr11	66693373	66693373	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon24:c.C4667T:p.A1556V	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1984416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.077	0.00782639383867	.	0.000798722	0.0004	0	0	0	0	4.587e-05	0	0.0025	0.0003299	51	154602	rs191457765	0.0002	0.0002	8.507e-05	0.0003	0.0026	0.0002	0.0001	0.0023	0.0022	0	0	0	0	0	0.0003	1.439e-05	9.945e-05	0.0026	0.0001	0.0001	8.991e-05	0.0001	0.0025	7.569e-05	6.275e-05	0.0014	0.0011	2.405e-05	0	0	0	0	0	0	7.349e-05	0	0.0025	0.088	0.33585	T	0.226	0.25438	T	0.004	0.12183	B	0.016	0.17743	B	0.612147	0.10856	N	0.826822	1	0.08975	N	1.43	0.35840	L	0.74	0.50459	T	-0.74	0.20791	N	0.154	0.15888	-0.9489	0.41160	T	0.132	0.44307	T	10	0.006809652	0.00155	T	0.007826	0.20773	T	0.077	0.22490	.	.	0.436533834345	0.43271	0.0878304321849126	0.08716	0.406051081287	0.41486	0.52974653244	0.42998	T	0.193443	0.54891	T	-0.590914	0.00166	T	-0.627441	0.10609	T	0.0275704232263624	0.01626	T	0.620138	0.23804	T	0.038565	0.05163	0.048762448	0.07311	0.041240074	0.06037	0.045061216	0.05978	-5.634	0.43426	T	0.1648710537462691	0.20402	0.082	0.09288	B	.;.;.	.;.;.	1.633254	0.20848	14.94	0.98390957434358928	0.40957	0.70356	0.34557	D	AEFDBI	0.167343	0.29400	N	-0.559841410495158	0.20176	1.061701	-0.599986008561152	0.19492	1.046106	0.0691869918184412	0.15482	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.699875	0.68795	0	.	.	4.01	2.12	0.26372	2.110000	0.41497	2.336000	0.32225	0.672000	0.70159	0.220000	0.24536	0.097000	0.22620	0.001000	0.02609	0.2939:0.0:0.7061:0.0	7.469	0.26508	221	0.91431	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	568.33	37	chr11	66693373	.	G	A	568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=716;ExcessHet=0;FS=2.143;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.493;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	66699460	66699460	T	C	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon18:c.A3722G:p.E1241G	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	441459	not_provided|Spinocerebellar_ataxia_type_5|Autosomal_recessive_spinocerebellar_ataxia_14|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766|MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.0074391179249	0.0012	0.000199681	0.0007	0.0002	0.0008	0	0	0.0008	0	0.0016	0.0007115	110	154602	rs141683210	0.0010	0.0010	0.0010	0.0010	0.0016	0.0010	0.0010	0.0014	0.0013	0.0001	0.0003	0.0008	0	5.616e-05	0.0005	0.0011	0.0008	0.0016	0.0006	0.0006	0.0006	0.0006	0.0015	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0015	0.025	0.47320	D	0.089	0.40747	T	0.003	0.11197	B	0.008	0.13708	B	0.482493	0.12149	N	0.757438	0.986274	0.24632	N	0.395	0.12235	N	0.63	0.53088	T	-4.39	0.77225	D	0.152	0.16308	-1.0262	0.21690	T	0.077	0.30767	T	10	0.016491503	0.00348	T	0.007439	0.19739	T	0.038	0.09825	.	.	0.401208672323	0.39738	0.1413639102444736	0.14059	0.480005790873	0.47024	0.266203522682	0.05653	T	0.385556	0.74693	T	-0.519105	0.00445	T	-0.525698	0.19720	T	0.0384204390514704	0.03407	T	0.540346	0.18307	T	0.15997092	0.35906	0.19341065	0.42908	0.15997092	0.35905	0.19341065	0.42907	-5.353	0.41775	T	0.2332572537021219	0.31575	0.081	0.09385	B	.;.;.	.;.;.	1.807439	0.22973	15.83	0.99398590320853475	0.62702	0.42304	0.26848	N	AEFDBI	0.164559	0.29096	N	-0.735650994326193	0.15026	0.7536364	-0.678433153395733	0.17500	0.9308354	0.246730484289458	0.18634	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.0	-0.00344	0.13348	1.814000	0.38610	-0.041000	0.12668	-0.186000	0.09761	0.356000	0.25809	0.000000	0.08366	0.964000	0.52637	0.0:0.2557:0.1386:0.6057	5.777	0.17549	226	0.91233	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1269.33	35	chr11	66699460	.	T	C	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=740;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.844;SOR=0.883	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	66705304	66705304	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon15:c.C1972T:p.R658W	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	314797	SPTBN2-related_disorder|Autosomal_dominant_cerebellar_ataxia|not_specified|not_provided	.|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.477	0.110598423344	0.0011	0.00179712	0.0028	0.0003	0.0005	0	0.0031	0.0024	0.0032	0.0079	0.0019534	302	154602	rs199968321	0.0017	0.0017	0.0015	0.0019	0.0074	0.0016	0.0016	0.0069	0.0067	0.0003	0.0003	0.0061	0	0.0020	0.0056	0.0012	0.0018	0.0074	0.0012	0.0012	0.0011	0.0014	0.0066	0.0011	0.0010	0.0048	0.0042	0.0002	0	0.0003	0.0058	0	0.0010	0.0204	0.0016	0.0014	0.0066	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.66	0.52416	T	-5.63	0.86836	D	0.592	0.65673	-0.3892	0.72368	T	0.303	0.67437	T	10	0.011531532	0.00252	T	0.110598	0.78804	D	0.477	0.76881	.	.	0.437548520547	0.43377	0.5852234101085948	0.58452	1.25880593895	0.81978	0.752330958843	0.74790	T	0.604364	0.87367	D	-0.197769	0.21128	T	-0.0528525	0.66826	D	0.042728208032078	0.04188	T	0.932607	0.74787	D	0.8714494	0.88977	0.91654706	0.96154	0.9445349	0.95709	0.9151603	0.96056	-8.89	0.66985	D	0.8221557097815095	0.89491	0.222	0.45359	B	.;.;.	.;.;.	4.527705	0.71055	25.6	0.9992227400918956	0.98852	0.97883	0.77847	D	AEFDGBI	0.708837	0.66312	D	0.584913705328402	0.72234	5.773513	0.521883338574037	0.69466	5.36426	0.999999999998098	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.55	4.55	0.55429	1.541000	0.35732	6.480000	0.55735	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.222	0.82086	231	0.90996	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007568	0.005155	0.004076	0.008772	0.000000	0.000000	0.012195	0.011364	0.02632	941.33	39	chr11	66705304	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.742;DP=753;ExcessHet=0;FS=13.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-2.781;SOR=1.243	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	66721149	66721149	G	A	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon3:c.C92T:p.S31L	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	441483	not_provided|Inborn_genetic_diseases|Spinocerebellar_ataxia_type_5|Autosomal_recessive_spinocerebellar_ataxia_14|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010848,MedGen:C0752123,OMIM:600224,Orphanet:98766|MONDO:MONDO:0014159,MedGen:C4706415,OMIM:615386,Orphanet:352403|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	0.010221900177	0.0012	.	0.0006	0.0002	0.0005	0	0	0.0008	0	0.0006	0.0005692	88	154602	rs147766428	0.0010	0.0010	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0001	0.0003	0.0008	0	5.616e-05	0.0003	0.0011	0.0007	0.0005	0.0005	0.0005	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0004	0.2	0.20607	T	0.341	0.30631	T	0.013	0.16609	B	0.007	0.12992	B	0.015870	0.28130	N	0.328291	0.999986	0.18198	N	0	0.06538	N	0.33	0.58323	T	-1.64	0.51968	N	0.202	0.22357	-1.0791	0.07524	T	0.078	0.31224	T	10	0.029143512	0.01042	T	0.010222	0.26500	T	0.071	0.20720	.	.	0.43068463968	0.42687	0.28380285629432533	0.28293	0.707441371052	0.61489	0.531617999077	0.43263	T	0.263048	0.63469	T	-0.46304	0.00941	T	-0.445165	0.28232	T	0.0147897285512416	0.00311	T	0.860614	0.55382	D	0.11360131	0.26828	0.10256012	0.24584	0.11360131	0.26828	0.10256012	0.24583	-4.54	0.31408	T	.	.	0.117	0.23779	B	.;.;.;.;.;.	.;.;.;.;.;.	4.776897	0.77386	26.7	0.9943003796305272	0.64227	0.71383	0.34989	D	AEFDGBI	0.243816	0.36503	N	-0.257089568674121	0.30822	1.722218	-0.0512026168481646	0.37439	2.192049	0.999997411071743	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.655142	0.61905	0	.	.	4.58	3.65	0.40985	2.180000	0.42167	9.572000	0.81012	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.994000	0.71098	0.0951:0.0:0.6131:0.2917	6.257	0.20089	240	0.90628	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2026.33	37	chr11	66721149	.	G	A	2026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=760;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.173;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	18	0	1	0
chr11	66849651	66849651	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon19:c.G3107A:p.R1036H,PC:NM_000920:exon20:c.G3107A:p.R1036H,PC:NM_001040716:exon21:c.G3107A:p.R1036H	Pyruvate carboxylase deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	200187	not_provided|Pyruvate_carboxylase_deficiency|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.658	0.242358896636	0.0012	.	0.0006	0.0002	0.0005	0	0	0.0009	0	0.0005	0.0006209	96	154602	rs141237842	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0001	0.0003	0.0008	0	5.618e-05	0.0003	0.0012	0.0006	0.0004	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0008	0.0001	0	0.0004	0	0	0	0	0.0010	0.0009	0.0004	0.029	0.45756	D	0.027	0.55341	D	0.543	0.37944	P	0.19	0.36341	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.77	0.45869	L	-1.71	0.95922	D	-4.36	0.76980	D	0.732	0.73285	0.841	0.94911	D	0.831	0.94341	D	10	0.47667927	0.60185	T	0.242359	0.88756	D	0.658	0.87184	.	.	0.887476936082	0.88637	.	.	0.714140963439	0.61866	0.739421010017	0.72887	T	0.095567	0.86274	T	-0.02223	0.48535	T	0.188028	0.82457	D	0.0657500550150871	0.08042	T	0.880312	0.59828	D	0.45784056	0.64536	0.20735022	0.44989	0.45784056	0.64537	0.20735022	0.44988	-6.975	0.53851	T	0.8954397273031476	0.94871	.	.	.	.;.;.;.	.;.;.;.	3.824677	0.55248	23.6	0.99721870547333069	0.82125	0.94779	0.62300	D	AEFDGBCI	0.856789	0.77407	D	0.319459980327587	0.57148	3.881128	0.357094068437907	0.58937	4.067477	0.999999999999974	0.74766	0.660377	0.49826	0	0.611049	0.52481	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.45	4.45	0.53365	3.620000	0.53944	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	14.946	0.70678	408	0.82256	Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1285.33	33	chr11	66849651	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=795;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=2.43;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1375	18	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:86,51:140:99:396,0,1390	9	0	8	2
chr11	66975600	66975600	C	T	exonic	C11orf86	.	stopgain	C11orf86:NM_001136485:exon1:c.C238T:p.R80X,C11orf86:NM_001353554:exon1:c.C238T:p.R80X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212881560	1.573e-05	1.505e-05	1.269e-05	1.884e-05	2.806e-05	1.03e-05	8.79e-06	1.126e-05	9.08e-06	0	2.806e-05	0	2.798e-05	0	0	1.761e-05	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496276	0.05065	N	1.309580	0.999771	0.48980	D	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275118	0.80893	D	0.157412	0.80647	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.045914	0.94427	34	0.95984682292340762	0.28368	0.04004	0.09429	N	AEFDGBCI	0.070541	0.14008	N	-0.213031439809411	0.32598	1.840142	-0.551202559146018	0.20774	1.120811	0.999997957111262	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.95	0.307	0.15057	0.542000	0.22930	0.607000	0.19990	-0.235000	0.07621	0.003000	0.16062	0.002000	0.18203	0.200000	0.21896	0.5923:0.4077:0.0:0.0	12.024	0.52656	170	0.93412	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	35	chr11	66975600	.	C	T	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.249;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1141	18	0	1	0
chr11	67240254	67240254	C	G	exonic	KDM2A	.	nonsynonymous SNV	KDM2A:NM_001256405:exon1:c.C47G:p.P16R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0901957120249	.	.	9.309e-05	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs761347077	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.949e-05	0.0001	0.0001	0	8.404e-05	3.971e-05	0	0	0	0.0001	6.909e-05	1.262e-05	0.0002	0.0002	0.0002	9.421e-05	0.0004	0.0001	8.724e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0002	0	0	0.049	0.39820	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.11	0.19860	T	-1.25	0.31576	N	0.25	0.28264	-1.0384	0.17802	T	0.072	0.29130	T	6	0.086135805	0.14613	T	0.090196	0.75472	D	0.033	0.08068	0.367	0.37524	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.475892	0.00782	T	-0.615385	0.11551	T	0.10634433478117	0.13041	T	0.30177	0.05696	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.092	0.13783	B	.	.	1.243542	0.16394	12.51	0.7053647724602895	0.09328	0.60685	0.31266	D	AEFGBHCIJ	0.068263	0.13457	N	-0.456108381712157	0.23534	1.264443	-0.489045154672409	0.22455	1.219701	0.999999999999404	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.07	-1.21	0.09033	-0.082000	0.11268	0.038000	0.13828	-1.081000	0.01566	0.663000	0.28286	0.456000	0.24978	0.925000	0.46118	0.0:0.481:0.0:0.519	7.619	0.27340	253	0.90069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1084.33	33	chr11	67240254	.	C	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=728;ExcessHet=0;FS=2.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.151;SOR=0.994	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1195	18	0	1	0
chr11	67310103	67310103	G	A	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon13:c.G1447A:p.V483I	.	430	1087	4	1	0	6	0.00275229	.	.	.	3327050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00413310659255	7.7e-05	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs141784426	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.987e-05	0	0.0077	0	1.879e-05	0.0021	6.026e-05	0.0005	0.0001	0.0002	0.0002	0.0003	6.723e-05	8.817e-05	0.0001	9.699e-05	3.761e-05	2.574e-05	0	0	0	0.0055	0	0	0	8.817e-05	0	0	0.121	0.27783	T	0.254	0.23433	T	0.094	0.25382	B	0.037	0.29098	B	0.932518	0.08411	N	0.957020	0.999994	0.58761	D	1.24	0.30952	L	3.84	0.03675	T	-0.15	0.09297	N	0.109	0.10056	-1.0179	0.24398	T	0.024	0.10103	T	10	0.005006939	0.00108	T	0.004133	0.09900	T	0.037	0.09474	.	.	0.225215365344	0.22153	0.11967506803510722	0.11894	0.161591931189	0.18238	0.36813557148	0.20564	T	0.077477	0.35664	T	-0.421093	0.01683	T	-0.639994	0.09669	T	0.00998661681599739	0.00133	T	0.726327	0.34071	T	0.027758382	0.02013	0.03655411	0.03125	0.027758382	0.02012	0.03655411	0.03125	-5.106	0.37971	T	.	.	0.074	0.05145	B	.;.	.;.	1.738505	0.22124	15.49	0.96947949019486857	0.31723	0.36469	0.25540	N	AEFDGBI	0.053343	0.09602	N	-0.491643904516495	0.22354	1.193031	-0.369716150433861	0.25905	1.427521	0.999886903953961	0.44867	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.65	1.51	0.22094	0.446000	0.21410	1.911000	0.29646	0.676000	0.76740	0.003000	0.16062	0.991000	0.31484	0.714000	0.34579	0.2101:0.0:0.5943:0.1957	3.638	0.07695	397	0.82902	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	849.33	37	chr11	67310103	.	G	A	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=727;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.59;SOR=0.907	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1477	18	0	1	0
chr11	67393789	67393789	C	T	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon2:c.C220T:p.R74W,RAD9A:NM_004584:exon5:c.C448T:p.R150W	.	.	.	.	.	.	.	.	0.0002	0.128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0573097356564	.	0.000199681	0.0001	0.0002	0.0003	0.0002	0	7.66e-05	0	9.063e-05	0.0001035	16	154602	rs193060554	0.0002	0.0002	0.0002	0.0002	0.0020	0.0001	0.0001	0.0010	0.0008	0.0001	6.81e-05	0	0	0	0.0020	0.0002	0.0001	2.361e-05	5.907e-05	5.905e-05	8.993e-05	2.684e-05	0.0001	3.074e-05	2.208e-05	3.762e-05	2.575e-05	2.405e-05	0	0.0001	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999254	0.46462	D	2.91	0.84121	M	1.34	0.34841	T	-7.23	0.94300	D	0.675	0.68255	-0.6670	0.61964	T	0.211	0.57081	T	10	0.4645886	0.59492	T	0.05731	0.66920	D	0.304	0.62510	.	.	0.564243864375	0.56087	0.6895625308660523	0.68896	0.587335338042	0.54318	0.558472752571	0.47053	T	0.420355	0.77209	T	-0.172769	0.24817	T	-0.270612	0.47758	T	0.687701644622294	0.40142	D	0.926607	0.73035	D	0.89933026	0.91323	0.8508801	0.91562	0.89933026	0.91324	0.8508801	0.91563	-9.249	0.69286	D	.	.	0.207	0.43311	B	.;.	.;.	4.639765	0.73847	26.1	0.99886900564323078	0.96204	0.85849	0.45029	D	AEFGBI	0.614260	0.60164	D	0.284384659984197	0.55355	3.699777	0.129902097038544	0.46086	2.860408	0.999903120116235	0.45458	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.81	-0.0733	0.13068	0.312000	0.19147	2.551000	0.33264	0.599000	0.40250	0.979000	0.35152	0.972000	0.29809	0.979000	0.57723	0.3445:0.6555:0.0:0.0	12.035	0.52716	417	0.81662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002081	0.000000	0.001362	0.000000	0.000000	0.008621	0.003268	0.000000	0.02632	697.33	44	chr11	67393789	.	C	T	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=709;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.428;SOR=0.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	67396157	67396157	A	G	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon5:c.A488G:p.H163R,RAD9A:NM_004584:exon8:c.A716G:p.H239R	.	377	1140	5	0	0	5	0.00218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0002	0.00878594	0.0041	0	0.0180	0.0290	0	0.0003	0.0044	0.0008	0.0038745	599	154602	rs17880039	0.0016	0.0016	0.0017	0.0016	0.0320	0.0016	0.0016	0.0306	0.0300	0	0.0150	0.0011	0.0320	0	0.0007	0.0001	0.0029	0.0010	0.0019	0.0019	0.0019	0.0019	0.0266	0.0017	0.0016	0.0230	0.0216	9.627e-05	0	0.0076	0.0003	0.0266	0	0	0.0002	0.0024	0.0017	0.013	0.57480	D	0.025	0.56192	D	0.976	0.58310	D	0.781	0.57337	P	0.000001	0.84330	D	0.054913	0.999774	0.48980	D	1.98	0.53716	M	1.94	0.22678	T	-5.47	0.85617	D	0.599	0.61764	-1.1312	0.01726	T	0.019	0.07753	T	10	0.012375504	0.00266	T	.	.	.	0.182	0.45420	.	.	0.433157607263	0.42933	0.6383396809080554	0.63767	0.61141868815	0.55778	0.511258244514	0.40398	T	0.30689	0.67907	T	-0.366364	0.03782	T	-0.276721	0.47139	T	0.108839608017469	0.13303	T	0.877312	0.59062	D	0.89923567	0.91315	0.81037986	0.88924	0.89923567	0.91316	0.81037986	0.88925	-6.852	0.52945	T	.	.	0.152	0.33550	B	.;.	.;.	3.916758	0.57157	23.8	0.99293518885489607	0.58362	0.98104	0.79632	D	AEFGBHCI	0.781863	0.71332	D	0.467524088225863	0.65203	4.793211	0.461134167954659	0.65436	4.823469	0.999999996887679	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.636168	0.56350	0	.	.	4.64	4.64	0.57399	6.407000	0.73202	11.106000	0.86222	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	11.601	0.50263	417	0.81662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1123.33	37	chr11	67396157	.	A	G	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.457;SOR=0.698	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1227	18	0	1	0
chr11	67396333	67396333	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon6:c.G577A:p.D193N,RAD9A:NM_004584:exon9:c.G805A:p.D269N	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00578819951924	.	.	8.245e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs776682970	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.637e-05	1.316e-05	1.314e-05	0	2.694e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.174	0.22486	T	0.286	0.21277	T	0.117	0.26519	B	0.008	0.13708	B	0.995073	0.07927	N	1.002150	0.999999	0.08975	N	1.645	0.42016	L	2.42	0.15376	T	-1.63	0.39119	N	0.131	0.12627	-0.9669	0.37834	T	0.032	0.13679	T	10	0.07999253	0.12934	T	0.005788	0.15042	T	0.048	0.13305	0.24	0.17218	0.218845423259	0.21516	0.3168803577758821	0.31601	0.118899308023	0.13393	0.316490352154	0.12890	T	0.211811	0.57268	T	-0.465119	0.00913	T	-0.809034	0.01687	T	0.0937889888882637	0.11660	T	0.573543	0.20534	T	0.07419655	0.16635	0.036732025	0.03179	0.07419655	0.16634	0.036732025	0.03178	-6.236	0.48213	T	.	.	0.076	0.06159	B	.	.	1.134715	0.15214	11.68	0.98468536997083378	0.41826	0.15299	0.18843	N	AEFDBHCI	0.094816	0.19166	N	-0.858128311805674	0.11850	0.5742117	-0.909708886703462	0.11864	0.6070599	0.999756376969533	0.42595	0.645754	0.44609	0	0.697927	0.68747	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.64	0.25	0.14795	-0.399000	0.07311	1.512000	0.27031	-0.108000	0.15293	0.000000	0.06391	0.890000	0.27818	0.039000	0.14166	0.0881:0.1501:0.457:0.3048	3.225	0.06330	417	0.81662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2131.33	37	chr11	67396333	.	G	A	2131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.006;SOR=0.69	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2145,0,1549	18	0	1	0
chr11	67397249	67397249	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon7:c.G715A:p.G239S,RAD9A:NM_004584:exon10:c.G943A:p.G315S	.	416	1076	29	1	0	31	0.0142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00674044341663	0.0002	0.000399361	0.0008	0	8.845e-05	0.0001	0	0.0009	0.0034	0.0023	0.0006986	108	154602	rs200889885	0.0005	0.0005	0.0004	0.0006	0.0082	0.0005	0.0005	0.0063	0.0056	0.0003	8.945e-05	0.0080	0	0	0.0082	0.0001	0.0011	0.0029	0.0004	0.0004	0.0004	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0	0	0.0002	0.0084	0	0	0.0034	0.0002	0.0019	0.0025	0.93	0.02250	T	0.404	0.14818	T	0.001	0.07471	B	0.002	0.06944	B	0.196505	0.16710	N	0.637433	1	0.08975	N	1.085	0.27262	L	2.64	0.12780	T	-0.51	0.15986	N	0.118	0.10769	-0.9639	0.38428	T	0.020	0.08500	T	10	0.003173083	0.00053	T	0.00674	0.17812	T	0.067	0.19503	.	.	0.208816687407	0.20498	0.21397613749639785	0.21313	0.123990175203	0.13960	0.318685054779	0.13222	T	0.050718	0.28675	T	-0.599233	0.00147	T	-0.638771	0.09759	T	0.00379153651183673	0.00040	T	0.629237	0.24427	T	0.029976238	0.02583	0.03956437	0.04079	0.029976238	0.02582	0.03956437	0.04078	-2.572	0.06293	T	.	.	0.076	0.05756	B	.	.	1.813035	0.23040	15.86	0.88481324033704301	0.18011	0.26466	0.23001	N	AEFDGBCI	0.114825	0.22602	N	-0.637747467855133	0.17818	0.9201484	-0.55187385330579	0.20757	1.119749	0.999997243207629	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.643519	0.47002	0	0.692231	0.68500	0	.	.	4.68	2.71	0.31092	0.474000	0.21858	3.627000	0.39303	0.676000	0.76740	0.004000	0.16614	1.000000	0.68203	0.911000	0.44643	0.1072:0.0:0.683:0.2099	4.967	0.13443	420	0.81451	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	2349.33	34	chr11	67397249	.	G	A	2349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=800;ExcessHet=0;FS=3.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.189;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	67404353	67404353	G	C	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369492:exon1:c.G151C:p.G51R,TBC1D10C:NM_001369496:exon1:c.G151C:p.G51R,TBC1D10C:NM_001369498:exon1:c.G151C:p.G51R,TBC1D10C:NM_001256508:exon2:c.G151C:p.G51R,TBC1D10C:NM_001369497:exon2:c.G151C:p.G51R,TBC1D10C:NM_198517:exon2:c.G151C:p.G51R	.	410	1108	4	0	0	4	0.0018018	0.0001	0.006	.	3916575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00344367774307	7.7e-05	.	6.336e-05	0	0	0	0	4.886e-05	0	0.0003	5.17e-05	8	154602	rs147597470	3.87e-05	3.831e-05	2.918e-05	4.847e-05	0.0016	3.044e-05	2.731e-05	0.0008	0.0006	0.0002	7.339e-05	0	0	0	0.0016	1.566e-05	3.425e-05	0.0002	3.285e-05	3.283e-05	2.57e-05	4.034e-05	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.137	0.25979	T	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	0.115402	0.19235	N	0.374482	0.854668	0.28445	N	1.39	0.34934	L	2.22	0.18248	T	-1.83	0.42957	N	0.226	0.25377	-0.9768	0.35727	T	0.019	0.08079	T	10	0.07507613	0.11558	T	0.003444	0.07755	T	0.052	0.14661	0.257	0.19845	0.332133492242	0.32818	0.43886102748497424	0.43803	0.23887650308	0.26443	0.591272413731	0.51673	T	0.02228	0.17204	T	-0.469589	0.00855	T	-0.618822	0.11277	T	0.0410149517993649	0.03874	T	0.834017	0.50309	T	0.030168483	0.02633	0.03620215	0.03021	0.030168483	0.02633	0.03620215	0.03021	-6.233	0.50724	T	.	.	0.220	0.45111	B	.;.;.	.;.;.	3.098966	0.41754	21.4	0.95880175776400978	0.28073	0.80848	0.40383	D	AEFDGBCIJ	0.337115	0.43502	N	-0.687717461068177	0.16371	0.833466	-0.570554578792368	0.20262	1.090865	0.99999975246033	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.91	0.7	0.17258	0.972000	0.29007	3.596000	0.39206	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.998000	0.85391	0.1518:0.1267:0.5909:0.1305	3.978	0.08976	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	33	chr11	67404353	.	G	C	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.868;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	18	0	1	0
chr11	67424407	67424407	G	A	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon9:c.G2290A:p.D764N,CARNS1:NM_001166222:exon10:c.G2659A:p.D887N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0663057676517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-06	8.209e-06	2.761e-06	1.121e-05	5.206e-05	3.52e-06	2.56e-06	8.62e-06	3.23e-06	3.035e-05	0	0	5.206e-05	0	0	4.543e-06	1.682e-05	1.197e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.028	0.49613	D	0.106	0.38596	T	0.824	0.45836	P	0.158	0.34617	B	0.049275	0.23176	N	0.373374	0.992752	0.41734	D	0.805	0.20218	L	1.18	0.37746	T	-1.39	0.34795	N	0.323	0.36359	-1.0864	0.06155	T	0.069	0.28379	T	10	0.14870235	0.28156	T	0.066306	0.69835	D	0.114	0.32008	0.383	0.40134	0.42324137094	0.41940	0.49443479446855004	0.49364	0.247428932849	0.27293	0.659347712994	0.61315	T	0.004	0.03611	T	-0.277717	0.10912	T	-0.636697	0.09913	T	0.755352258682251	0.43587	D	0.823018	0.48339	T	0.10061808	0.23759	0.09693813	0.23053	0.10061808	0.23759	0.09693813	0.23052	-5.569	0.43075	T	.	.	0.100	0.20352	B	.;.;.	.;.;.	3.061769	0.41119	21.3	0.99836622289926624	0.91800	0.46888	0.27860	N	AEFDBHCI	0.267796	0.38442	N	-0.0303888182562756	0.40483	2.404893	0.0130036934808954	0.40318	2.404217	0.999999999608032	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.41	5.41	0.78313	2.336000	0.43597	11.845000	0.97913	0.663000	0.56723	0.069000	0.22043	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	17.954	0.88982	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	33	chr11	67424407	.	G	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=718;ExcessHet=0;FS=2.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.196;SOR=0.425	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	67436137	67436137	C	T	exonic	PTPRCAP	.	nonsynonymous SNV	PTPRCAP:NM_005608:exon2:c.G217A:p.A73T	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0050	0.00199681	0.0100	0.0045	0.006	0.0004	0.0141	0.0164	0.0125	0.0015	0.0046183	714	154602	rs61731772	0.0083	0.0082	0.0085	0.0081	0.0099	0.0082	0.0081	0.0097	0.0097	0.0012	0.0037	0.0031	5.219e-05	0.0051	0.0011	0.0099	0.0068	0.0012	0.0056	0.0056	0.0061	0.0050	0.0090	0.0052	0.0051	0.0085	0.0082	0.0023	0	0.0033	0.0029	0	0.0050	0	0.0090	0.0061	0.0019	0.107	0.29554	T	0.486	0.11691	T	0.216	0.30161	B	0.014	0.16862	B	0.894722	0.07318	U	1.088660	1	0.08975	N	1.385	0.34509	L	0.87	0.46412	T	-1.54	0.37375	N	0.1	0.08227	-1.0411	0.16981	T	0.040	0.17149	T	10	0.006975293	0.00159	T	.	.	.	0.012	0.01476	.	.	0.174091166621	0.17034	0.10967980334301777	0.10896	0.854114418886	0.68683	0.734494924545	0.72164	T	0.188684	0.54267	T	-0.570542	0.00220	T	-0.584502	0.14145	T	0.023335611287491	0.01063	T	0.458554	0.13215	T	0.052390184	0.09765	0.08879586	0.20726	0.052390184	0.09764	0.08879586	0.20725	-5.398	0.40900	T	.	.	0.113	0.22135	B	.	.	2.257057	0.28836	17.93	0.99512241542832602	0.68678	0.03771	0.09087	N	AEFDGBHCI	0.047422	0.07985	N	-1.08882766927206	0.06848	0.3164201	-1.10724207782475	0.07561	0.3682562	0.999999653286169	0.74766	0.538715	0.22204	0	0.52208	0.09955	0	0.78367	0.99111	0	0.508809	0.08732	0	.	.	4.68	-1.32	0.08721	-0.597000	0.05809	0.568000	0.19578	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1806:0.4108:0.0:0.4086	3.670	0.07807	658	0.62094	.	.	.	.	.	rs61731772	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002528	0.000000	0.000000	0.000000	0.000000	0.008621	0.003106	0.003788	0.02632	1188.33	90	chr11	67436137	.	C	T	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=740;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.807;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr11	67436256	67436256	G	A	exonic	PTPRCAP	.	nonsynonymous SNV	PTPRCAP:NM_005608:exon2:c.C98T:p.S33F	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0118154733766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.026e-06	4.788e-06	2.836e-06	7.27e-06	0.0011	2.09e-06	1.34e-06	0.0005	0.0003	0	0	0	0	0	0.0011	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.173	0.30143	T	0.971	0.57185	D	0.875	0.62107	P	0.610303	0.10873	U	0.696895	0.960703	0.26136	N	1.385	0.34509	L	0.75	0.50192	T	-4.63	0.79229	D	0.253	0.28616	-0.9626	0.38684	T	0.167	0.50534	T	10	0.24728072	0.42006	T	0.011815	0.29802	T	0.077	0.22490	0.261	0.20473	0.209943299407	0.20609	0.5283937936371376	0.52763	0.292402306145	0.31654	0.559730291367	0.47229	T	0.456314	0.79513	T	-0.175933	0.24344	T	-0.490492	0.23340	T	0.823010683059692	0.47997	D	0.70043	0.31009	T	0.13662222	0.31665	0.2166501	0.46301	0.13662222	0.31664	0.2166501	0.46300	-5.599	0.42783	T	.	.	0.289	0.52102	B	.	.	2.585357	0.33527	19.37	0.99280360121325029	0.57869	0.47868	0.28079	N	AEFDGBHCI	0.145206	0.26837	N	0.0640524989920845	0.44790	2.746805	0.00147293643867834	0.39785	2.364176	0.99999999899284	0.74766	0.538715	0.22204	0	0.52208	0.09955	0	0.78367	0.99111	0	0.711	0.71501	0	.	.	4.93	4.0	0.45673	0.343000	0.19686	2.418000	0.32674	0.590000	0.31872	0.002000	0.15269	0.262000	0.23990	0.774000	0.36673	0.1018:0.0:0.8982:0.0	9.473	0.38020	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	709.33	42	chr11	67436256	.	G	A	709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=706;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.994;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr11	67441820	67441820	C	G	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon4:c.G367C:p.E123Q,CORO1B:NM_001018070:exon5:c.G367C:p.E123Q	.	374	1129	17	2	0	21	0.00921457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0444039617384	0.0010	0.000199681	0.0013	0.0005	0.0009	0	0	0.0020	0.0023	0.0002	0.0011902	184	154602	rs145707942	0.0012	0.0012	0.0011	0.0012	0.0234	0.0011	0.0011	0.0202	0.0190	0.0008	0.0015	0.0094	0	5.72e-05	0.0234	0.0009	0.0026	0.0006	0.0011	0.0011	0.0011	0.0010	0.0014	0.0009	0.0009	0.0010	0.0009	0.0004	0	0.0014	0.0066	0	0	0.0204	0.0012	0.0052	0.0002	0.039	0.42487	D	0.082	0.45961	T	0.627	0.40110	P	0.288	0.40614	B	0.001648	0.38382	N	0.000000	0.999998	0.58761	D	1.4	0.35362	L	0.08	0.61559	T	-2.39	0.55339	N	0.255	0.33030	-0.6694	0.61856	T	0.194	0.54681	T	10	0.010311604	0.00230	T	0.044404	0.61472	D	0.121	0.33580	.	.	0.664120544419	0.66130	0.2968442600386641	0.29597	0.988996760639	0.74003	0.515059351921	0.40932	T	0.194067	0.54973	T	-0.377789	0.03217	T	-0.350823	0.39112	T	0.0186743929616995	0.00580	T	0.978802	0.93255	D	0.21497856	0.43918	0.12088789	0.29170	0.21497856	0.43918	0.12088789	0.29169	-9.684	0.71998	D	.	.	0.127	0.33273	B	.;.;.;.	.;.;.;.	4.141246	0.62042	24.4	0.99761134971433219	0.85091	0.93366	0.58024	D	AEFGBCI	0.895544	0.83567	D	0.0251099959070321	0.42998	2.601544	0.0660695217039148	0.42855	2.599541	0.999999999990971	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.46	4.46	0.53567	4.950000	0.63305	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:1.0:0.0:0.0	16.898	0.85972	662	0.61715	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.033967	0.040936	0.000000	0.043103	0.009146	0.003788	0.02632	1382.33	36	chr11	67441820	.	C	G	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.882;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	18	0	1	0
chr11	67464622	67464622	C	G	exonic	TMEM134	.	nonsynonymous SNV	TMEM134:NM_001078650:exon6:c.G535C:p.E179Q,TMEM134:NM_001078651:exon7:c.G553C:p.E185Q,TMEM134:NM_025124:exon7:c.G580C:p.E194Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0169763163091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.50132	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.003220	0.35270	N	0.224693	0.91036	0.36395	D	1.245	0.31408	L	.	.	.	-1.23	0.31170	N	0.155	0.25499	-0.7864	0.55938	T	0.160	0.49463	T	9	0.291507	0.46729	T	0.016976	0.38486	T	0.172	0.43662	0.447	0.50629	0.254244900254	0.25046	0.5641181430266801	0.56338	0.42360814653	0.42814	0.578906536102	0.49932	T	0.029042	0.20900	T	-0.0954112	0.37182	T	-0.374828	0.36325	T	0.896899342536926	0.54870	D	0.922808	0.71955	D	0.23842259	0.46720	0.09580679	0.22739	0.23842259	0.46720	0.09580679	0.22738	-3.605	0.33657	T	.	.	0.477	0.65069	A	.;.	.;.	4.755848	0.76843	26.6	0.99786151433453107	0.87219	0.85004	0.44103	D	ALL	0.598761	0.59204	D	0.156503992206016	0.49119	3.116014	0.182175710316391	0.48869	3.097306	0.999999999999833	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.87	3.87	0.43823	2.469000	0.44768	7.424000	0.58739	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	11.503	0.49697	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	431.33	33	chr11	67464622	.	C	G	431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=654;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.304;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1081	18	0	1	0
chr11	67487057	67487057	G	A	exonic	AIP	.	nonsynonymous SNV	AIP:NM_001302960:exon2:c.G151A:p.D51N,AIP:NM_003977:exon2:c.G151A:p.D51N	Pituitary adenoma, ACTH-secreting, Autosomal recessive;Pituitary adenoma, growth hormone-secreting, Autosomal dominant, Somatic mutation;Pituitary adenoma, prolactin-secreting	.	.	.	.	.	.	.	.	.	.	810867	Somatotroph_adenoma|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.817	0.513663251314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.45	0.88847	D	-4.71	0.80510	D	0.875	0.87265	0.976	0.96791	D	0.870	0.95667	D	10	0.9867381	0.99001	D	0.513663	0.95340	D	0.817	0.94123	0.924	0.98707	0.922766685427	0.92197	0.8883113056915437	0.88800	1.12871861863	0.78529	0.573907971382	0.49229	T	0.478552	0.80832	T	0.139132	0.68243	D	-0.0379234	0.67842	D	0.997607469558716	0.91964	D	0.988201	0.95985	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.86514	P	.;.	.;.	4.776877	0.77386	26.7	0.99875259177422859	0.95244	0.99517	0.96975	D	ALL	0.936890	0.93387	D	0.84658420318109	0.88914	9.760807	0.730324682914808	0.84680	8.360288	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	9.541000	0.97178	11.813000	0.96995	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.0:0.0:1.0:0.0	17.344	0.87194	749	0.51929	FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	39	chr11	67487057	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.586;DP=811;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.487;SOR=0.833	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	./.:116,0:116:0:0,0,2237	8	0	6	5
chr11	67666626	67666626	C	G	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon4:c.G99C:p.W33C,ALDH3B2:NM_001354345:exon5:c.G99C:p.W33C	.	424	1097	1	0	0	1	0.000455581	.	.	.	2332874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.776	0.287490691901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.505	0.98992	H	-2.02	0.85542	D	-12.02	0.99722	D	0.937	0.94314	0.904	0.95735	D	0.839	0.94631	D	10	0.9320847	0.92544	D	0.287491	0.90448	D	0.776	0.92501	0.668	0.80602	0.946269241659	0.94570	0.9423527421283183	0.94216	0.979952316233	0.73708	0.6228556633	0.56133	T	0.535801	0.84017	D	0.46441	0.93113	D	0.429317	0.93028	D	0.999887704849243	0.99524	D	0.993001	0.97720	D	0.9662851	0.97906	0.94481456	0.98078	0.9662851	0.97906	0.94481456	0.98078	-9.093	0.68292	D	.	.	0.631	0.71039	P	.;.;.;.	.;.;.;.	4.646173	0.74011	26.1	0.99049350505367251	0.51207	0.98248	0.80913	D	AEFDBI	0.749648	0.69101	D	0.77724526802078	0.84666	8.351425	0.590285967945317	0.74241	6.10382	0.999999831664426	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.07	4.07	0.46726	4.883000	0.62820	7.322000	0.58169	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.472000	0.28386	0.1687:0.8313:0.0:0.0	12.423	0.54867	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	34	chr11	67666626	.	C	G	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=1028;ExcessHet=0;FS=1.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.289;SOR=0.877	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr11	68021650	68021650	C	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon6:c.C617A:p.T206N,ALDH3B1:NM_001290059:exon6:c.C140A:p.T47N,ALDH3B1:NM_000694:exon7:c.C728A:p.T243N,ALDH3B1:NM_001161473:exon7:c.C728A:p.T243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109035707912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.79402	D	0.993	0.65571	D	0.979	0.74454	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.68342	.	.	.	.	.	.	.	0.7479043	0.75422	D	0.109036	0.78583	D	.	.	.	.	0.670900020916	0.66812	0.8312104411542628	0.83080	.	.	0.609260678291	0.54211	T	0.387461	0.74837	T	0.176335	0.71706	D	0.0155166	0.71340	D	.	.	.	0.909009	0.68582	D	0.60756004	0.73097	0.80246747	0.88425	0.60756004	0.73098	0.80246747	0.88425	-7.598	0.58297	D	.	.	0.513	0.71378	A	.;.;.	.;.;.	4.803805	0.78081	26.8	0.94438343939432634	0.24859	0.86693	0.46028	D	AEFGBHCI	0.763220	0.70039	D	.	.	.	.	.	.	0.999999999904327	0.74766	0.035006	0.00240	2	0.068659	0.01829	0	0.096126	0.03002	1	0.057841	0.00900	0	.	.	3.75	3.75	0.42236	3.937000	0.56287	7.218000	0.57839	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	14.393	0.66563	783	0.47268	Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active site;Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active site;Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4045.33	34	chr11	68021650	.	C	A	4045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=953;ExcessHet=0;FS=3.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.373;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr11	68158560	68158560	G	C	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1270G:p.Q424E,KMT5B:NM_001369430:exon10:c.C1270G:p.Q424E,KMT5B:NM_001300908:exon11:c.C1066G:p.Q356E,KMT5B:NM_001369426:exon11:c.C1786G:p.Q596E,KMT5B:NM_001369433:exon11:c.C1270G:p.Q424E,KMT5B:NM_017635:exon11:c.C1786G:p.Q596E,KMT5B:NM_001300907:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369428:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369431:exon12:c.C1270G:p.Q424E,KMT5B:NM_001369432:exon12:c.C1270G:p.Q424E	.	414	1107	1	0	0	1	0.000451467	.	.	.	2348233	not_provided|KMT5B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.141	0.00696204585315	0.0005	0.000399361	0.0007	0.0002	0.0007	0	0.0015	0.0009	0.0022	0.0001	0.0005821	90	154602	rs187695236	0.0005	0.0005	0.0005	0.0006	0.0033	0.0005	0.0005	0.0022	0.0018	0.0002	0.0004	0.0015	0	0.0012	0.0033	0.0005	0.0005	6.956e-05	0.0005	0.0005	0.0006	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0003	0.0012	0	0.0009	0.0034	0.0008	0	0	0.147	0.24955	T	1.0	0.01155	T	.	.	.	.	.	.	0.601983	0.10949	N	0.831384	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.37	0.13226	N	0.053	0.04547	-1.1125	0.02864	T	0.043	0.18701	T	10	0.008837432	0.00200	T	0.006962	0.18430	T	0.141	0.37795	.	.	0.0675242888579	0.06100	0.06101839333726505	0.06041	0.260481724346	0.28615	0.264342725277	0.05419	T	.	.	.	-0.559625	0.00255	T	-0.632987	0.10190	T	0.0317035942687095	0.02258	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08081	B	.;.	.;.	1.646813	0.21016	15.01	0.87520610452587133	0.17286	0.97286	0.73800	D	AEFGBI	0.574906	0.57751	D	-0.504345083888058	0.21939	1.167976	-0.356894863522173	0.26297	1.451558	0.96995069884857	0.29169	0.706548	0.73137	0	0.653731	0.59785	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	7.305000	0.78209	7.962000	0.76007	0.526000	0.24426	0.994000	0.38300	1.000000	0.68203	0.583000	0.30967	0.0:0.0:0.8448:0.1552	13.581	0.61367	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	3269.33	34	chr11	68158560	.	G	C	3269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=864;ExcessHet=0;FS=3.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.197;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	18	0	1	0
chr11	68158751	68158751	G	A	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1079T:p.S360L,KMT5B:NM_001369430:exon10:c.C1079T:p.S360L,KMT5B:NM_001300908:exon11:c.C875T:p.S292L,KMT5B:NM_001369426:exon11:c.C1595T:p.S532L,KMT5B:NM_001369433:exon11:c.C1079T:p.S360L,KMT5B:NM_017635:exon11:c.C1595T:p.S532L,KMT5B:NM_001300907:exon12:c.C1079T:p.S360L,KMT5B:NM_001369428:exon12:c.C1079T:p.S360L,KMT5B:NM_001369431:exon12:c.C1079T:p.S360L,KMT5B:NM_001369432:exon12:c.C1079T:p.S360L	.	425	1096	1	0	0	1	0.000455996	.	.	.	3203550	not_provided|KMT5B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	.	0.00279553	0.0013	0	0.0004	0.0161	0	4.496e-05	0	0.0007	0.0011772	182	154602	rs150905417	0.0005	0.0005	0.0005	0.0005	0.0141	0.0005	0.0005	0.0131	0.0128	0	0.0002	0	0.0141	0	0.0002	5.306e-05	0.0010	0.0008	0.0007	0.0007	0.0007	0.0008	0.0176	0.0006	0.0006	0.0147	0.0136	0	0	0.0007	0	0.0176	0	0	5.881e-05	0.0005	0.0012	0.251	0.17069	T	0.342	0.17910	T	.	.	.	.	.	.	0.132251	0.18594	N	0.594706	1	0.08975	N	.	.	.	0.72	0.50976	T	-1.87	0.43717	N	0.053	0.02658	-1.0652	0.10502	T	0.036	0.15596	T	10	0.0036820471	0.00068	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.06646069238613	0.06584	0.204442686565	0.22868	0.276907175779	0.07065	T	.	.	.	-0.618977	0.00112	T	-0.648269	0.09075	T	0.0242592002184262	0.01178	T	0.717928	0.33070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	1.377805	0.17886	13.43	0.99312258102054374	0.59055	0.32423	0.24582	N	AEFDGBI	0.197185	0.32411	N	-0.763247149514225	0.14276	0.7098151	-0.681404630482266	0.17426	0.9265441	0.268665748002198	0.18868	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.07	3.18	0.35615	1.797000	0.38438	2.431000	0.32730	0.526000	0.24426	0.020000	0.19661	0.041000	0.21590	0.901000	0.43729	0.1557:0.0:0.8443:0.0	10.752	0.45412	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2734.33	34	chr11	68158751	.	G	A	2734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=856;ExcessHet=0;FS=4.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.841;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	18	0	1	0
chr11	68262270	68262270	G	A	exonic	C11orf24	.	nonsynonymous SNV	C11orf24:NM_022338:exon4:c.C725T:p.A242V	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0282321974161	0.0032	0.00239617	0.0042	0.0011	0.0017	0	0.0006	0.0048	0.0067	0.0095	0.0040103	620	154602	rs143548724	0.0041	0.0041	0.0039	0.0044	0.0123	0.0041	0.0040	0.0100	0.0094	0.0004	0.0013	0.0115	5.042e-05	0.0005	0.0123	0.0039	0.0054	0.0102	0.0031	0.0031	0.0031	0.0031	0.0091	0.0029	0.0028	0.0070	0.0062	0.0009	0.0274	0.0020	0.0112	0.0002	0.0005	0.0204	0.0041	0.0038	0.0091	0.075	0.34444	T	1.0	0.01155	T	0.259	0.31472	B	0.042	0.24114	B	0.387933	0.04459	N	1.566200	1	0.21199	N	0	0.06538	N	1.53	0.30401	T	-0.72	0.20358	N	0.027	0.00571	-1.0101	0.26886	T	0.049	0.20789	T	10	0.0036025643	0.00065	T	0.028232	0.50935	D	0.027	0.05988	.	.	0.0297737177859	0.01360	0.17739713016599357	0.17658	0.0499308058184	0.05480	.	.	.	0.002935	0.02330	T	-0.659442	0.00063	T	-0.712912	0.05146	T	0.00710173053315158	0.00081	T	0.433957	0.11861	T	0.021631114	0.00775	0.03497424	0.02661	0.021631114	0.00775	0.03497424	0.02661	-4.253	0.27513	T	.	.	0.086	0.10545	B	.	.	1.533363	0.19672	14.38	0.97992139826947355	0.37408	0.26049	0.22880	N	AEFDGBCI	0.303205	0.41124	N	-1.07104348328458	0.07181	0.3328161	-1.07690766327859	0.08156	0.3997983	0.999998449885556	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.61	2.73	0.31266	1.147000	0.31213	1.594000	0.27546	-0.873000	0.02525	0.003000	0.16062	0.064000	0.22093	0.000000	0.00833	0.1699:0.0:0.8301:0.0	9.973	0.40939	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.013587	0.002924	0.100000	0.017241	0.018293	0.015152	0.02632	1304.33	90	chr11	68262270	.	G	A	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=773;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.994;SOR=0.954	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1429	18	0	1	0
chr11	68312730	68312730	C	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon1:c.C16A:p.P6T	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	490566	not_specified|not_provided|Osteogenesis_imperfecta	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.266	0.901743825548	.	.	0	0	0	0	0	0	0	0	0.0016136	42	26028	rs771718186	0.0003	0.0007	0.0003	0.0003	0.0371	0.0003	0.0003	0.0329	0.0312	0	0.0371	0	0	0	0.0010	6.308e-05	0.0007	3.802e-05	0.0029	0.0029	0.0027	0.0032	0.0263	0.0027	0.0026	0.0241	0.0233	0.0004	0	0.0263	0	0.0004	0	0	0.0001	0.0034	0.0002	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999747	0.20516	N	0.69	0.16971	N	-3.16	0.92996	D	0.05	0.06369	N	0.226	0.25377	-0.5877	0.65312	T	0.422	0.76704	T	9	0.010892689	0.00241	T	0.901744	0.99261	D	0.266	0.57999	.	.	0.472463234578	0.46874	0.31266129840528945	0.31179	0.460099396149	0.45567	0.600916147232	0.53034	T	0.266491	0.63844	T	-0.343395	0.05157	T	-0.231002	0.51676	T	0.029359110273971	0.01892	T	0.354665	0.08016	T	0.08947305	0.20906	0.14915313	0.35227	0.09153588	0.21451	0.105190404	0.25282	-6.262	0.48421	T	.	.	0.081	0.08224	B	.	.	1.901177	0.24149	16.29	0.73214484906760458	0.10248	0.04050	0.09496	N	ALL	0.030945	0.03213	N	-1.1709564866964	0.05444	0.2481942	-1.12387219752894	0.07246	0.3517304	0.999999999750365	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606884	0.38211	0	0.621717	0.48901	0	.	.	0.805	-1.61	0.07951	0.171000	0.16497	1.197000	0.24809	0.242000	0.18252	0.001000	0.13787	0.999000	0.35428	0.130000	0.19568	0.3485:0.346:0.3055:0.0	2.201	0.03684	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02941	96.52	7	chr11	68312730	.	C	A	96.52	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.139;DP=154;ExcessHet=0;FS=0;InbreedingCoeff=-0.0496;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-0.501;SOR=0.804	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,188	16	0	1	2
chr11	68348021	68348021	A	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon2:c.A266G:p.Q89R	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1493	26	3	0	32	0.010603	.	.	YES	192327	not_provided|not_specified|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	0.0046	0.0199681	0.0174	0.0030	0.0712	0.0956	0.0011	0.0048	0.0156	0.0053	0.0160412	2480	154602	rs41494349	0.0096	0.0096	0.0101	0.0090	0.0768	0.0094	0.0094	0.0746	0.0736	0.0026	0.0606	0.0002	0.0768	0.0014	0.0106	0.0061	0.0113	0.0056	0.0091	0.0091	0.0089	0.0094	0.0812	0.0087	0.0086	0.0748	0.0722	0.0024	0.0132	0.0284	0.0003	0.0812	0.0009	0.0102	0.0054	0.0104	0.0046	0.879	0.02550	T	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.000266	0.46590	U	0.000000	0.997559	0.43985	D	-1.01	0.01154	N	-2.56	0.89627	D	0.36	0.03700	N	0.117	0.10626	-0.7890	0.55788	T	0.035	0.15291	T	10	0.0024719536	0.00037	T	.	.	.	0.255	0.56562	.	.	.	.	0.7059334402387919	0.70535	0.442339813184	0.44202	0.524348080158	0.42239	T	0.270593	0.64287	T	-0.469902	0.00851	T	-0.370281	0.36856	T	0.0210225047742076	0.00803	T	0.80142	0.44736	T	0.111641444	0.26380	0.10058037	0.24053	0.103894375	0.24557	0.123055644	0.29677	0.083	0.00321	T	0.04609604163479369	0.00618	0.176	0.38480	B	.	.	2.211867	0.28218	17.72	0.35867570491121881	0.02275	0.75230	0.36825	D	AEFDBI	0.330168	0.43029	N	-0.602503233227717	0.18869	0.9830987	-0.329694221574866	0.27145	1.504193	0.999816300052879	0.43459	0.706548	0.73137	0	0.653731	0.59785	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	1.985000	0.40289	4.593000	0.43966	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.097	0.64554	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017623	0.020202	0.024457	0.020468	0.050000	0.025862	0.003049	0.007576	0.02632	2921.33	34	chr11	68348021	.	A	G	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.138;DP=903;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.706;SOR=0.556	GT:AD:DP:GQ:PL	0/1:144,125:269:99:2935,0,3672	18	0	1	0
chr11	68363773	68363773	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon4:c.C713T:p.T238M	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	194366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.701	0.495901038029	7.7e-05	0.000599042	0.0001	0.0001	8.954e-05	0	0	6.462e-05	0	0.0007	0.0001358	21	154602	rs375404890	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0006	2.987e-05	0.0001	3.827e-05	7.558e-05	0	0.0003	8.724e-05	0.0001	0.0008	0.0001	0.0001	0.0002	0.0001	0.0012	9.161e-05	7.715e-05	0.0005	0.0004	2.414e-05	0	0.0002	0	0.0002	0	0	0.0001	0	0.0012	0.017	0.51248	D	0.041	0.50514	D	0.997	0.70673	D	0.909	0.64565	D	0.000129	0.49741	U	0.000000	0.999994	0.58761	D	0.55	0.14455	N	-3.86	0.95891	D	-1.54	0.37375	N	0.355	0.39659	0.909	0.95795	D	0.848	0.94943	D	10	0.14121306	0.26835	T	0.495901	0.95074	D	0.701	0.89238	.	.	0.684902298874	0.68221	0.7340027607619051	0.73345	0.49715111449	0.48212	0.760690152645	0.76032	T	0.648199	0.89292	D	-0.0544524	0.43768	T	0.051599	0.73689	D	0.0940607594486104	0.11691	T	0.781022	0.41604	T	0.092075124	0.21592	0.11386681	0.27483	0.092075124	0.21591	0.11386681	0.27483	-2.864	0.08788	T	0.17786304870278433	0.22767	0.072	0.04198	B	.	.	4.441685	0.68969	25.3	0.99926612009954752	0.99103	0.95701	0.65788	D	AEFDBHI	0.747342	0.68943	D	0.466005514492029	0.65118	4.782299	0.448996494294704	0.64652	4.725376	0.999999999238507	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.78	3.78	0.42629	6.019000	0.70471	4.761000	0.44715	0.541000	0.25215	0.652000	0.28189	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.169	0.81604	526	0.73951	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	919.33	37	chr11	68363773	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=2.6;SOR=0.589	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	68403636	68403636	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon8:c.G1738A:p.V580I	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	838894	not_provided|Osteogenesis_imperfecta	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.108695101997	0.0006	.	0.0005	0	0.0010	0.0001	0	0.0007	0.0044	0	0.0004722	73	154602	rs149524398	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	2.987e-05	0.0005	0	2.519e-05	9.366e-05	0.0010	0.0004	0.0003	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	9.409e-05	0	0.0005	0.0010	0	0.596	0.05703	T	0.765	0.04555	T	0.003	0.11197	B	0.001	0.04355	B	0.012613	0.29115	U	0.146062	0.979058	0.39523	D	0	0.06538	N	-3.39	0.94210	D	-0.25	0.11008	N	0.1	0.08227	-0.4084	0.71761	T	0.531	0.82622	D	10	0.022778034	0.00578	T	0.108695	0.78534	D	0.111	0.31313	.	.	0.23524818089	0.23142	0.28402079668574165	0.28315	0.335568724543	0.35557	0.381461292505	0.22463	T	0.305705	0.67795	T	-0.328828	0.06201	T	-0.347082	0.39539	T	0.0185200283609265	0.00568	T	0.769523	0.39899	T	0.0133989	0.00058	0.018384002	0.00054	0.0133989	0.00058	0.018384002	0.00054	-4.584	0.31970	T	0.1153998260382543	0.10321	0.058	0.00717	B	.	.	1.871609	0.23776	16.15	0.93861414706665958	0.23866	0.57763	0.30462	D	AEFGBI	0.143196	0.26584	N	-0.656525064535128	0.17271	0.8872682	-0.516671123325422	0.21701	1.175163	0.945431563457651	0.27660	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.13	2.25	0.27340	0.830000	0.27115	2.545000	0.33235	-0.141000	0.12389	0.421000	0.26338	0.996000	0.32793	0.991000	0.66497	0.4556:0.0:0.5444:0.0	4.429	0.10942	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1204.33	40	chr11	68403636	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.167;DP=823;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.281;SOR=0.813	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	68413880	68413880	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon12:c.C952T:p.R318C,LRP5:NM_002335:exon12:c.C2695T:p.R899C	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1437803	Polycystic_liver_disease_4_with_or_without_kidney_cysts|Worth_disease|Osteoporosis|Exudative_vitreoretinopathy_1|Autosomal_dominant_osteopetrosis_1|Osteoporosis_with_pseudoglioma|Bone_mineral_density_quantitative_trait_locus_1|Exudative_vitreoretinopathy_4|not_provided	MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MedGen:C1866079,OMIM:601884|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.830	0.815542584512	.	.	8.293e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs760734426	4.792e-06	5.472e-06	5.449e-06	4.128e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	0	0	5.797e-05	6.568e-06	1.313e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000371	0.45194	U	0.000000	1	0.81001	D	3.84	0.95699	H	-2.96	0.91956	D	-6.09	0.89947	D	0.924	0.92784	0.960	0.96544	D	0.883	0.96132	D	10	0.9259753	0.91945	D	0.815543	0.98564	D	0.830	0.94616	0.626	0.76141	0.969059605449	0.96872	0.6518063755097245	0.65116	1.47296230253	0.86566	0.754757523537	0.75149	T	0.762661	0.93583	D	0.34337	0.86062	D	0.436978	0.93240	D	0.994048833847046	0.85117	D	0.981302	0.93576	D	0.63907295	0.74782	0.52449435	0.72528	0.63907295	0.74783	0.52449435	0.72528	-12.128	0.85469	D	0.6455737944364326	0.71693	0.749	0.75012	P	.	.	5.520814	0.91775	32	0.99939484262041145	0.99734	0.92272	0.55331	D	AEFDGBCI	0.753707	0.69381	D	0.749486088953612	0.82872	7.871181	0.676396764239117	0.80591	7.332837	0.999999996484303	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	1.432000	0.34545	7.605000	0.61698	0.599000	0.40250	0.776000	0.29426	1.000000	0.68203	0.997000	0.79791	0.1561:0.8438:0.0:0.0	13.495	0.60876	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2751.33	34	chr11	68413880	.	C	T	2751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.813;SOR=0.7	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	68439820	68439820	G	C	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon21:c.G2649C:p.M883I,LRP5:NM_002335:exon21:c.G4392C:p.M1464I	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	3792316	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.334	0.190776583899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.727e-06	1.378e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.064	0.44905	T	0.001	0.07471	B	0.003	0.08700	B	0.004237	0.33968	U	0.146929	0.999988	0.54805	D	2.43	0.70455	M	-3.18	0.93111	D	-1.23	0.31170	N	0.458	0.49511	0.396	0.89033	D	0.759	0.91784	D	10	0.36483747	0.53019	T	0.190777	0.86144	D	0.334	0.65620	0.34	0.33141	0.731377292797	0.72898	0.3086789218040176	0.30780	0.48238453677	0.47196	0.514059185982	0.40790	T	0.375771	0.73930	T	0.164891	0.70653	D	-0.000921912	0.70276	D	0.781597980332368	0.45150	D	0.972803	0.90184	D	0.4257034	0.62470	0.19002475	0.42383	0.4257034	0.62470	0.19002475	0.42382	-3.789	0.20640	T	0.12225309363075094	0.11694	0.286	0.51806	B	.	.	2.514172	0.32476	19.05	0.99317466258919707	0.59241	0.98176	0.80261	D	AEFDBI	0.913335	0.87518	D	0.161372434734483	0.49351	3.136545	0.303570878769973	0.55749	3.737746	0.999999999874775	0.74766	0.741868	0.97996	0	0.653731	0.59785	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	7.643000	0.82546	5.008000	0.46647	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.025	0.89190	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2163.33	33	chr11	68439820	.	G	C	2163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=814;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.702;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1159	18	0	1	0
chr11	68688091	68688091	A	G	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon4:c.A214G:p.M72V	.	.	.	.	.	.	.	.	.	.	.	3254288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00214719092849	.	.	4.168e-05	0	0	0	0	7.598e-05	0	0	3.23e-05	5	154602	rs765429698	3.848e-05	3.899e-05	3.967e-05	3.727e-05	0.0002	3.039e-05	2.731e-05	3.736e-05	3.388e-05	0	0	0	0	0	0.0002	4.79e-05	1.662e-05	1.161e-05	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.66	0.04699	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.230990	0.03518	N	1.586860	1	0.08975	N	-1.175	0.00869	N	1.06	0.39781	T	-0.17	0.09627	N	0.064	0.03613	-1.0386	0.17740	T	0.033	0.14160	T	10	0.036254793	0.01914	T	0.002147	0.04016	T	0.007	0.00512	.	.	0.144782658237	0.14088	0.11182278287102547	0.11111	0.12717885238	0.14329	0.248940855265	0.03656	T	0.093339	0.39190	T	-0.507458	0.00519	T	-0.810339	0.01658	T	0.0127014159373043	0.00214	T	0.238676	0.03398	T	0.039132986	0.05346	0.038671743	0.03789	0.039132986	0.05346	0.038671743	0.03789	-2.332	0.04733	T	0.06566685278025787	0.02183	0.050	0.00154	B	.	.	-1.048886	0.00704	0.021	0.35118886107173131	0.02186	0.01797	0.05612	N	AEFDBCI	0.033163	0.03882	N	-1.62170149599371	0.01160	0.05041653	-1.63649580490618	0.01447	0.06546014	0.922563865715092	0.26713	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.03	-4.48	0.03267	-1.492000	0.02405	-0.005000	0.13145	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5746:0.1497:0.2757:0.0	5.909	0.18258	809	0.43032	Galanin message associated peptide (GMAP)|Galanin message associated peptide (GMAP)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1085.33	34	chr11	68688091	.	A	G	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.335;DP=725;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.365;SOR=0.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1253	18	0	1	0
chr11	68934473	68934473	G	A	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon11:c.G1547A:p.R516H	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	905296	Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S|Charcot-Marie-Tooth_disease	MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0817432760893	7.7e-05	.	1.402e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs373017768	6.865e-06	6.84e-06	5.46e-06	8.286e-06	2.531e-05	3.47e-06	2.53e-06	3.1e-06	2.24e-06	0	0	0	2.531e-05	0	0	7.21e-06	0	1.176e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.105	0.29823	T	0.156	0.31833	T	0.661	0.40924	P	0.148	0.34065	B	0.552951	0.05380	N	1.253910	0.846711	0.35154	D	1.435	0.35949	L	-1.65	0.82625	D	-1.34	0.33401	N	0.205	0.22742	-0.3444	0.73716	T	0.456	0.78808	T	10	0.29682952	0.47246	T	0.081743	0.73748	D	0.414	0.72479	.	.	0.886045865566	0.88492	0.5252705230208593	0.52451	0.250979752939	0.27677	0.359289765358	0.19282	T	0.502193	0.82216	D	-0.0940954	0.37400	T	-0.188922	0.55691	T	0.252102486341575	0.22967	T	0.925907	0.72722	D	0.07013193	0.15421	0.08748643	0.20340	0.07013193	0.15421	0.08748643	0.20339	-7.162	0.55208	T	0.4980821823472286	0.57377	0.084	0.09530	B	.	.	3.967655	0.58234	24.0	0.99753099768204834	0.84460	0.64454	0.32413	D	AEFDGBHCI	0.190316	0.31755	N	0.171264349255374	0.49823	3.178494	0.224728757331598	0.51224	3.306719	0.999873527244755	0.44625	0.77792	0.99625	0	0.653731	0.59785	0	0.854111	0.99894	0	0.635551	0.53088	0	.	.	4.94	3.81	0.43020	2.939000	0.48687	6.393000	0.55562	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.1856:0.0:0.8144:0.0	9.643	0.39015	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1765.33	41	chr11	68934473	.	G	A	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.381;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1277:.	18	0	1	0
chr11	69062946	69062946	G	C	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon6:c.G609C:p.K203N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.566573121995	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767658519	3.424e-06	7.662e-05	4.088e-06	2.753e-06	4.502e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.983	0.81110	D	0.000000	0.84330	D	0.051808	0.98787	0.40664	D	3.13	0.88074	M	-5.1	0.98700	D	-4.57	0.78721	D	0.819	0.81459	1.059	0.98310	D	0.962	0.98783	D	10	0.666906	0.70481	D	0.566573	0.96064	D	0.803	0.93582	0.565	0.68633	0.890918811248	0.88984	0.8145515243667576	0.81411	0.781653008177	0.65330	0.735282063484	0.72279	T	0.838297	0.96205	D	0.227099	0.76446	D	0.0884361	0.76141	D	0.996135711669922	0.88735	D	0.959804	0.84855	D	0.94878507	0.96142	0.78956217	0.87619	0.94878507	0.96142	0.78956217	0.87619	-16.42	0.98325	D	.	.	0.983	0.91726	P	.;.;.;.	.;.;.;.	4.986874	0.82651	27.8	0.99871840539915624	0.94902	0.91723	0.54127	D	AEFDGBI	0.296118	0.40605	N	0.585380537984792	0.72261	5.778054	0.487604374071234	0.67169	5.047988	0.996270105924348	0.34636	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.59	2.67	0.30756	1.507000	0.35365	7.043000	0.57343	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2102:0.0:0.7898:0.0	9.645	0.39026	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	67.18	143	chr11	69062946	.	G	C	67.18	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.423;DP=1570;ExcessHet=0;FS=84.249;InbreedingCoeff=-0.0598;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=0.058;SOR=6.994	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	1	2
chr11	69070460	69070460	C	T	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon9:c.C860T:p.A287V	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.398838150141	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	9.7e-05	15	154602	rs147779433	7.47e-05	7.593e-05	6.411e-05	8.54e-05	0.0014	6.326e-05	5.883e-05	0.0007	0.0005	0	0	0.0010	0.0002	0	0.0014	3.06e-05	0.0002	0.0003	7.879e-05	7.874e-05	7.709e-05	8.057e-05	7.351e-05	4.494e-05	3.51e-05	2.847e-05	1.858e-05	0	0	0	0.0014	0	0	0.0034	7.351e-05	0.0005	0	0.215	0.19293	T	0.562	0.09052	T	0.746	0.52883	P	0.346	0.42645	B	0.000419	0.44736	D	0.187136	0.64155	0.32881	D	2.325	0.66631	M	-4.82	0.98198	D	-1.46	0.35792	N	0.351	0.62696	0.747	0.93752	D	0.863	0.95428	D	10	0.1601755	0.30077	T	0.398838	0.93352	D	0.472	0.76554	.	.	0.743129133944	0.74082	0.46878782644960176	0.46797	0.344598231681	0.36389	0.536858916283	0.44003	T	0.603804	0.87341	D	-0.0856825	0.38786	T	-0.059132	0.66393	T	0.0513368009011972	0.05732	T	0.953105	0.82105	D	0.11491674	0.27124	0.09586104	0.22752	0.11491674	0.27123	0.09586104	0.22752	-9.563	0.71251	D	.	.	0.088	0.17060	B	.;.;.;.	.;.;.;.	3.168066	0.42956	21.6	0.99022768193302657	0.50613	0.77153	0.37904	D	AEFGBI	0.189511	0.31676	N	-0.096072436725769	0.37565	2.187283	-0.0894964792464804	0.35823	2.077145	0.761241661575046	0.23514	0.651	0.46895	0	0.653731	0.59785	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	4.33	2.35	0.28166	1.285000	0.32866	2.660000	0.33874	0.597000	0.34315	0.991000	0.37257	1.000000	0.68203	0.981000	0.58702	0.0:0.8188:0.0:0.1812	9.821	0.40051	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	801.33	41	chr11	69070460	.	C	T	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.886;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.908;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr11	69296010	69296010	G	A	exonic	MYEOV	.	nonsynonymous SNV	MYEOV:NM_001293294:exon2:c.G386A:p.R129Q,MYEOV:NM_001293296:exon2:c.G386A:p.R129Q,MYEOV:NM_001300924:exon2:c.G386A:p.R129Q,MYEOV:NM_001293291:exon3:c.G560A:p.R187Q,MYEOV:NM_001300923:exon3:c.G386A:p.R129Q,MYEOV:NM_138768:exon3:c.G560A:p.R187Q	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00210690905787	.	0.00139776	0.0012	9.612e-05	0.0002	0	0	0.0001	0.0022	0.0079	0.0009896	153	154602	rs200177645	0.0006	0.0006	0.0003	0.0009	0.0087	0.0006	0.0005	0.0082	0.0080	5.974e-05	4.473e-05	0	0	0	0.0033	4.946e-05	0.0006	0.0087	0.0003	0.0003	0.0002	0.0005	0.0087	0.0002	0.0002	0.0066	0.0059	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0087	.	.	.	.	.	.	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.84	0.24841	T	-3.69	0.70432	D	0.059	0.03726	-1.0156	0.25143	T	0.028	0.11838	T	9	0.0037336946	0.00069	T	0.002107	0.03908	T	0.049	0.13647	0.265	0.21103	0.0138822411134	0.00435	0.022432533154522878	0.02195	0.0779199742432	0.08771	0.206845760345	0.00685	T	0.018351	0.14809	T	-0.710506	0.00032	T	-0.788242	0.02213	T	0.0127332898869277	0.00215	T	0.505949	0.15996	T	0.32971525	0.55448	0.16151944	0.37565	0.32971525	0.55448	0.16151944	0.37564	-4.488	0.30731	T	.	.	0.105	0.20117	B	.;.;.	.;.;.	0.517025	0.08858	5.637	0.44544677041443209	0.03432	0.00579	0.02613	N	AEFDBHCI	0.033071	0.03856	N	-1.22084020928438	0.04699	0.2126061	-1.31319988209973	0.04259	0.2004842	0.999999164441449	0.74766	0.50712	0.20391	0	0.681609	0.65952	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	1.71	-1.43	0.08418	-0.244000	0.08921	-0.405000	0.09385	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5827:0.0:0.4173:0.0	5.010	0.13651	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	3635.83	33	chr11	69296010	.	G	A	3635.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.9;DP=1792;ExcessHet=0.119;FS=3.333;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.765;SOR=0.912	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	17	0	2	0
chr11	70078649	70078649	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon1:c.C43T:p.R15C,ANO1:NM_001378095:exon1:c.C43T:p.R15C,ANO1:NM_001378096:exon1:c.C43T:p.R15C,ANO1:NM_001378097:exon1:c.C43T:p.R15C,ANO1:NM_018043:exon1:c.C43T:p.R15C,ANO1:NM_001378092:exon2:c.C166T:p.R56C,ANO1:NM_001378093:exon2:c.C43T:p.R15C	.	.	.	.	.	.	.	.	.	.	.	2358576	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.747539820064	0.0002	0.000199681	7.018e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs199763025	6.654e-05	6.909e-05	6.476e-05	6.833e-05	0.0009	5.506e-05	5.096e-05	0.0004	0.0002	0.0001	7.975e-05	0	0	0	0.0009	7.439e-05	1.87e-05	0	5.355e-05	5.258e-05	3.92e-05	6.861e-05	0.0001	2.599e-05	1.86e-05	4.833e-05	3.383e-05	2.421e-05	0	0	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.046	0.76473	D	0.875	0.48103	P	0.132	0.33005	B	0.190202	0.16867	U	0.444680	1	0.81001	D	0	0.06538	N	-0.12	0.64630	T	-1.4	0.38345	N	0.193	0.21188	-1.0216	0.23195	T	0.107	0.39027	T	9	0.15349266	0.28972	T	0.74754	0.97984	D	0.185	0.45933	.	.	0.539689378838	0.53620	0.44228719200427297	0.44145	0.912084979948	0.71099	0.755538463593	0.75266	T	0.158039	0.50089	T	-0.140989	0.29732	T	-0.243326	0.50472	T	0.12323371530391	0.14743	T	0.946505	0.79528	D	0.14113884	0.32535	0.122131996	0.29462	0.14113884	0.32534	0.122131996	0.29461	-4.206	0.26838	T	.	.	0.272	0.58197	B	.;.	.;.	4.354941	0.66921	25.0	0.99839070231122462	0.91972	0.64594	0.32458	D	AEFDBHCI	0.172842	0.29990	N	-0.0945316201467512	0.37632	2.192191	-0.0528990045899097	0.37364	2.186812	0.99999972882526	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.23	2.2	0.26966	1.775000	0.38213	2.959000	0.35747	0.428000	0.20880	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2934:0.5813:0.0:0.1252	5.058	0.13878	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001535	0.005208	0.001362	0.000000	0.000000	0.000000	0.003165	0.000000	0.02632	1143.33	34	chr11	70078649	.	C	T	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=723;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.359;SOR=0.828	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	18	0	1	0
chr11	70325524	70325524	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon5:c.C556T:p.L186F,PPFIA1:NM_003626:exon5:c.C556T:p.L186F,PPFIA1:NM_177423:exon5:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0205606230066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386e-06	2.053e-06	0	2.781e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.559	0.52977	P	0.701	0.60313	P	0.006406	0.32054	U	0.193970	0.99496	0.42488	D	2.265	0.64440	M	0.98	0.42122	T	-3.35	0.66436	D	0.739	0.73916	-0.7296	0.58984	T	0.200	0.55555	T	10	0.48158023	0.60463	T	0.020561	0.43179	T	0.209	0.49871	0.259	0.20159	0.424008860402	0.42018	0.3626377871181502	0.36177	0.76799639243	0.64618	0.812693417072	0.83906	D	0.413768	0.76753	T	-0.014331	0.49658	T	-0.258362	0.48987	T	0.979316532611847	0.72768	D	0.988601	0.96130	D	0.25011766	0.48012	0.34691197	0.60353	0.25011766	0.48012	0.34691197	0.60353	-13.736	0.92167	D	.	.	0.829	0.78989	P	.;.	.;.	4.159751	0.62465	24.5	0.99873922477131083	0.95160	0.89456	0.49932	D	AEFBI	0.153597	0.27848	N	0.259333758224046	0.54102	3.576677	0.203659963657009	0.50049	3.20118	0.999990652356261	0.74766	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	4.19	0.48645	1.191000	0.31747	4.531000	0.43726	0.530000	0.24713	0.606000	0.27796	1.000000	0.68203	0.990000	0.65344	0.154:0.7697:0.0:0.0763	8.525	0.32462	653	0.62661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1383.33	35	chr11	70325524	.	C	T	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=728;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.447;SOR=0.444	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr11	70354410	70354410	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_003626:exon17:c.C2273T:p.A758V,PPFIA1:NM_177423:exon17:c.C2273T:p.A758V,PPFIA1:NM_001378006:exon19:c.C2378T:p.A793V	.	.	.	.	.	.	.	.	.	.	.	713121	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0091	0.00998403	0.0026	0.0275	0.0006	0	0	0.0002	0.0044	0	0.0024579	380	154602	rs139448605	0.0009	0.0009	0.0009	0.0008	0.0270	0.0008	0.0008	0.0256	0.0250	0.0270	0.0016	0	0	1.873e-05	0.0026	0.0001	0.0019	0.0002	0.0080	0.0080	0.0085	0.0075	0.0275	0.0076	0.0075	0.0262	0.0256	0.0275	0	0.0027	0	0	0	0.0102	0.0002	0.0085	0	0.071	0.35165	T	0.081	0.41742	T	0.012	0.24799	B	0.004	0.16862	B	0.011941	0.29350	N	0.314716	0.64121	0.30614	N	2.215	0.62545	M	1.62	0.28189	T	-2.19	0.49352	N	0.099	0.08088	-0.7363	0.58642	T	0.097	0.36471	T	10	0.0026628375	0.00041	T	.	.	.	0.025	0.05312	.	.	0.274431252636	0.27063	0.42823316278274376	0.42740	0.207269236385	0.23175	0.391059875488	0.23819	T	0.031642	0.22134	T	-0.540713	0.00332	T	-0.529201	0.19365	T	0.0244417466004927	0.01201	T	0.936106	0.78893	D	0.06788686	0.14741	0.10590737	0.25468	0.06788686	0.14741	0.10590737	0.25467	-7.495	0.57575	T	.	.	0.087	0.13221	B	.;.	.;.	2.076961	0.26416	17.11	0.99745232365062719	0.83852	0.92756	0.56469	D	AEFDBI	0.264789	0.38205	N	-0.0453413794841677	0.39811	2.353813	-0.0869473213609779	0.35929	2.084571	0.979978702535308	0.30084	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.45	0.53365	2.177000	0.42138	0.382000	0.17791	0.599000	0.40250	0.919000	0.31930	0.024000	0.20971	0.585000	0.31016	0.0:0.9277:0.0:0.0723	14.198	0.65225	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.006793	0.005848	0.000000	0.008621	0.003049	0.000000	0.02632	1857.33	37	chr11	70354410	.	C	T	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=778;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.24;SOR=0.946	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr11	70486142	70486142	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.C2387T:p.A796V,SHANK2:NM_001379226:exon15:c.C3014T:p.A1005V,SHANK2:NM_012309:exon25:c.C4151T:p.A1384V	.	0	1521	1	0	0	1	0.000328623	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00338496750522	.	.	2.48e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs782510001	1.095e-05	1.095e-05	9.534e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	7.41e-06	2.77e-06	2.987e-05	4.473e-05	0	0	1.878e-05	0.0002	7.198e-06	1.656e-05	2.319e-05	1.973e-05	1.97e-05	0	4.038e-05	7.244e-05	5.24e-06	2.46e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	0	0	0	0.072	0.34982	T	0.038	0.51421	D	0.931	0.51899	P	0.245	0.38823	B	0.000186	0.48115	D	0.247585	0.651782	0.32970	D	.	.	.	2.05	0.47815	T	-1.91	0.62863	N	0.383	0.42443	-1.1097	0.03096	T	0.047	0.20116	T	10	0.24238455	0.41433	T	0.003385	0.07572	T	0.108	0.30607	.	.	0.262679179196	0.25893	0.28291120935489505	0.28204	0.460673819842	0.45622	0.46632155776	0.34176	T	0.032051	0.25054	T	-0.232706	0.16292	T	-0.396196	0.33827	T	0.791125297546387	0.45763	D	0.973703	0.91539	D	.	.	.	.	.	.	.	.	-4.287	0.27994	T	.	.	0.160	0.37951	B	.;.;.;.;.	.;.;.;.;.	4.167358	0.62634	24.5	0.99812990603225027	0.89708	0.99673	0.98548	D	AEFDBI	0.902948	0.85144	D	0.354940176248648	0.59002	4.076077	0.435575158500221	0.63795	4.620626	0.995666009452194	0.34254	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	4.61	0.56724	8.951000	0.92928	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.862:0.138	15.698	0.77274	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7244.33	34	chr11	70486142	.	G	A	7244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.59;DP=1247;ExcessHet=0;FS=0.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.362;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1455	18	0	1	0
chr11	70486902	70486902	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.G1627A:p.D543N,SHANK2:NM_001379226:exon15:c.G2254A:p.D752N,SHANK2:NM_012309:exon25:c.G3391A:p.D1131N	.	0	1519	2	1	0	4	0.00131492	.	.	.	2813466	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00852761328051	7.7e-05	0.000199681	3.444e-05	0.0003	0	0	0	1.582e-05	0	0	3.23e-05	5	154602	rs377435833	3.287e-05	3.283e-05	2.317e-05	4.267e-05	0.0014	2.546e-05	2.251e-05	0.0007	0.0005	0.0006	0	0	0	0	0.0014	8.994e-06	0.0002	0	2.626e-05	2.624e-05	5.138e-05	0	4.81e-05	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	2.94e-05	0	0	0.542	0.33923	T	0.322	0.22154	T	0.099	0.25639	B	0.04	0.23831	B	0.106312	0.19620	N	0.571184	1	0.08975	N	.	.	.	0.86	0.46777	T	0.3	0.37955	N	0.136	0.23253	-1.0554	0.12934	T	0.060	0.25018	T	10	0.027055353	0.00859	T	0.008528	0.22557	T	0.014	0.01968	.	.	0.123314135267	0.11883	0.43117579873996686	0.43034	0.448811800939	0.44695	0.295215249062	0.09689	T	0.013891	0.12296	T	-0.433128	0.01420	T	-0.623267	0.10931	T	0.0191271398216486	0.00620	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-4.554	0.31589	T	.	.	0.069	0.05231	B	.;.;.;.;.	.;.;.;.;.	0.874578	0.12478	9.008	0.74311447453781088	0.10648	0.04667	0.10344	N	AEFDBI	0.082122	0.16625	N	-1.02172345604998	0.08153	0.3813323	-0.984348184920026	0.10136	0.5086319	0.220500470561988	0.18349	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.05	2.81	0.31971	1.132000	0.31031	0.200000	0.15841	-0.193000	0.09282	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.0:0.599:0.0:0.401	6.239	0.19989	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.025862	0.000000	0.000000	0.02632	1837.33	34	chr11	70486902	.	C	T	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=965;ExcessHet=0;FS=5.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.264;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1455	18	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N,SHANK2:NM_012309:exon14:c.G1670A:p.S557N	.	0	1508	14	0	0	14	0.00462046	.	.	.	2813475	not_provided|SHANK2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020227	0.062500	0.023256	0.003676	0.000000	0.017857	0.000000	0.000000	0.02632	1968.33	33	chr11	70798550	.	C	T	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.305;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-2.315;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	18	0	1	0
chr11	71527509	71527509	G	C	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G209C:p.C70S	.	425	1080	14	3	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160004821466	0.0009	0.000998403	0.0015	0.0003	0.0008	0	0	0.0018	0	0.0031	0.0013519	209	154602	rs199516478	0.0009	0.0009	0.0008	0.0010	0.0077	0.0008	0.0008	0.0058	0.0051	0.0002	0.0006	0.0091	0	0.0001	0.0077	0.0006	0.0014	0.0027	0.0010	0.0010	0.0011	0.0008	0.0021	0.0009	0.0008	0.0011	0.0009	9.695e-05	0	0.0013	0.0127	0	9.477e-05	0.0034	0.0009	0.0024	0.0021	0.0	0.91255	D	0.083	0.41405	T	0.871	0.47859	P	0.135	0.33210	B	.	.	.	.	0.991795	0.23982	N	2.875	0.83380	M	4.64	0.01799	T	-1.21	0.30762	N	0.214	0.23884	-0.9648	0.38250	T	0.006	0.01870	T	9	0.0050088167	0.00108	T	0.002	0.02574	T	0.069	0.20116	0.249	0.18602	0.043077524339	0.03247	0.024086599645979756	0.02359	0.0114129139534	0.01068	.	.	.	0.005037	0.04473	T	-0.479888	0.00740	T	-0.465153	0.26041	T	0.0765461762820738	0.09539	T	0.207979	0.02486	T	0.7362873	0.80080	0.5179825	0.72150	0.7362873	0.80082	0.5179825	0.72151	-11.531	0.82492	D	.	.	0.27	0.50417	B	.	.	1.657634	0.21145	15.07	0.75624857324298111	0.11147	0.37596	0.25797	N	AEFDBCI	0.146731	0.27024	N	-0.20482667406607	0.32935	1.862953	-0.256948208885445	0.29533	1.655342	0.639059402723984	0.22036	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.46	2.46	0.29032	2.662000	0.46431	.	.	0.327000	0.19478	0.324000	0.25538	0.749000	0.26537	0.025000	0.12405	0.1709:0.0:0.8291:0.0	5.810	0.17722	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005808	0.005051	0.008152	0.016000	0.050000	0.000000	0.000000	0.000000	0.02632	1701.33	174	chr11	71527509	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=2362;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.634;SOR=0.726	GT:AD:DP:GQ:PL	0/0:176,0:176:99:0,120,1800	18	0	1	0
chr11	71527700	71527700	-	C	exonic	KRTAP5-7	.	frameshift insertion	KRTAP5-7:NM_001012503:exon1:c.401dupC:p.G135Rfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320172769	3.165e-05	0.0011	3.832e-05	2.511e-05	0.0005	2.298e-05	2.034e-05	0.0003	0.0002	0.0005	4.651e-05	0	0	6.246e-05	0	1.511e-05	0.0001	0	0.0004	0.0056	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0003	0.0003	0	0.0008	0	0.0004	0.0001	0	0.0003	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	99.29	45	chr11	71527700	.	T	TC	99.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.921;DP=2160;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.67;MQRankSum=-10.23;QD=0.45;ReadPosRankSum=0.251;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	18	0	1	0
chr11	71527710	71527710	G	A	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G410A:p.G137E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00120614921592	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1483222073	2.92e-05	0.0010	3.508e-05	2.333e-05	0.0004	2.12e-05	1.876e-05	0.0002	0.0002	0.0004	2.322e-05	4.132e-05	2.634e-05	6.302e-05	0	1.361e-05	9.668e-05	0	0.0003	0.0054	0.0002	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	0.0003	0.0012	0.0007	0	0.0002	0.0002	0	0.0002	0.0016	0.0005	0.431	0.09514	T	0.602	0.07894	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	5.08	0.01245	T	0.89	0.01641	N	0.163	0.17140	-0.8690	0.50604	T	0.004	0.01470	T	9	0.020117402	0.00458	T	0.001206	0.01558	T	0.048	0.13305	0.196	0.10839	0.043077524339	0.03247	0.005164826475463748	0.00487	0.0114075377908	0.01068	.	.	.	0.045091	0.27016	T	-0.305003	0.08196	T	-0.675892	0.07236	T	0.0731619946187774	0.09088	T	0.0472953	0.00339	T	0.049296666	0.08730	0.074916676	0.16438	0.049296666	0.08730	0.074916676	0.16438	-8.963	0.67458	D	.	.	0.251	0.48551	B	.	.	1.576272	0.20177	14.62	0.26484491711072344	0.01271	0.02044	0.06116	N	AEFDGBHCI	0.027397	0.02231	N	-1.48686881969918	0.01942	0.08526225	-1.59391760537267	0.01692	0.07686525	0.999992696652889	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.53	-3.06	0.05053	0.957000	0.28812	.	.	0.323000	0.19410	0.007000	0.17678	0.006000	0.19429	0.409000	0.26983	0.4277:0.0:0.5723:0.0	8.142	0.30252	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	57.33	45	chr11	71527710	.	G	A	57.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.638;DP=2218;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.27;MQRankSum=-12.01;QD=0.25;ReadPosRankSum=-1.755;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	18	0	1	0
chr11	71548947	71548947	G	A	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G290A:p.C97Y	.	411	1105	2	0	4	6	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00239617	0.0022	9.862e-05	0.0002	0	0	2.997e-05	0.0022	0.0159	0.0018758	290	154602	rs535053140	0.0010	0.0010	0.0005	0.0014	0.0157	0.0009	0.0009	0.0150	0.0147	9.42e-05	2.249e-05	0	0	0	0.0005	8.124e-06	0.0010	0.0157	0.0004	0.0004	0.0002	0.0007	0.0131	0.0004	0.0003	0.0105	0.0095	5.186e-05	0	0	0	0	0	0	1.471e-05	0	0.0131	0.0	0.91255	D	0.0	0.92824	D	0.896	0.49324	P	0.504	0.47761	P	.	.	.	.	0.993389	0.23721	N	3.115	0.87836	M	3.39	0.05710	T	-8.35	0.97055	D	0.25	0.28264	-1.0478	0.15016	T	0.045	0.19316	T	9	0.004939854	0.00106	T	.	.	.	0.089	0.25827	0.403	0.43408	0.584954716481	0.58168	.	.	0.163754916086	0.18470	.	.	.	0.118216	0.43887	T	-0.4724	0.00821	T	-0.439022	0.28917	T	0.248085102933661	0.22787	T	0.618038	0.23687	T	0.7967657	0.83699	0.59460855	0.76468	0.7967657	0.83701	0.59460855	0.76468	-8.464	0.64191	D	.	.	0.168	0.36908	B	.	.	2.185900	0.27867	17.61	0.94609592365153894	0.25177	0.39336	0.26190	N	AEFDBCI	0.218380	0.34339	N	0.204378255193309	0.51412	3.322556	0.0210560692864076	0.40694	2.432728	0.99994994612482	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.26	1.26	0.20534	6.210000	0.72114	.	.	0.471000	0.21939	0.997000	0.40164	0.020000	0.20764	0.027000	0.12703	0.0:0.2339:0.5281:0.238	4.967	0.13445	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001059	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003817	0.02632	2198.33	34	chr11	71548947	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.719;DP=1434;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=0.818;QD=9.77;ReadPosRankSum=0.433;SOR=0.672	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1276	18	0	1	0
chr11	71549001	71549001	G	T	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G344T:p.C115F	.	407	1101	12	0	2	14	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0038	0.000399361	0.0035	0.0006	0.0016	0	0.0005	0.0055	0.0110	0.0013	0.0033893	524	154602	rs117137984	0.0039	0.0039	0.0038	0.0039	0.0150	0.0038	0.0038	0.0124	0.0115	0.0005	0.0022	0.0300	2.519e-05	0.0003	0.0150	0.0038	0.0055	0.0016	0.0029	0.0028	0.0030	0.0027	0.0037	0.0026	0.0025	0.0033	0.0032	0.0007	0	0.0022	0.0269	0	0.0002	0.0139	0.0037	0.0053	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.523	0.37559	P	0.299	0.41006	B	.	.	.	.	0.999813	0.20249	N	3.77	0.95173	H	3.82	0.03728	T	-6.3	0.90771	D	0.204	0.22614	-1.0319	0.19841	T	0.015	0.06282	T	9	0.005451739	0.00120	T	.	.	.	0.052	0.14661	.	.	0.306695030598	0.30287	.	.	0.147936380739	0.16687	.	.	.	0.100477	0.40632	T	-0.472536	0.00820	T	-0.449208	0.27785	T	0.128075466859228	0.15202	T	0.308669	0.05963	T	0.41504446	0.61760	0.40688035	0.65049	0.41504446	0.61760	0.40688035	0.65049	-8.074	0.61574	D	.	.	0.107	0.20038	B	.	.	1.659236	0.21164	15.08	0.82675549680281257	0.14316	0.09305	0.15088	N	AEFDBCI	0.082756	0.16760	N	-0.302047688813159	0.29071	1.608899	-0.499828655849234	0.22159	1.202206	0.999798386518099	0.43153	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.21	1.21	0.20240	4.878000	0.62786	.	.	0.575000	0.29119	0.357000	0.25817	0.034000	0.21380	0.002000	0.04165	0.2633:0.0:0.7366:0.0	3.524	0.07311	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013742	0.005051	0.013587	0.008197	0.050000	0.017241	0.030488	0.007576	0.02632	4348.33	34	chr11	71549001	.	G	T	4348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1498;ExcessHet=0;FS=0.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.081;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1276	18	0	1	0
chr11	71565875	71565875	-	TGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	exonic	KRTAP5-10	.	nonframeshift insertion	KRTAP5-10:NM_001012710:exon1:c.288_289insTGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT:p.G138_C139insGSKGGCGSCGGSKGGCGSCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.36e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	170.29	64	chr11	71565875	.	C	CTGTGGGGGCTCCAAGGGAGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	170.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1305;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-2.69;QD=12.16;ReadPosRankSum=-0.548;SOR=0.746	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr11	71582521	71582521	C	T	exonic	KRTAP5-11	.	nonsynonymous SNV	KRTAP5-11:NM_001005405:exon1:c.G317A:p.C106Y	.	424	1092	6	0	0	6	0.00273973	.	.	.	2813495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.000886902563917	0.0022	0.00139776	0.0021	0.0006	0.0014	0	0.0008	0.0030	0.0044	0.0012	0.0004851	75	154602	rs150290638	0.0027	0.0027	0.0027	0.0027	0.0096	0.0026	0.0026	0.0075	0.0068	0.0005	0.0016	0.0020	0	0.0013	0.0096	0.0031	0.0030	0.0011	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0029	0.0028	0.0005	0.0439	0.0022	0.0029	0	0.0008	0	0.0033	0.0043	0.0008	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	4.46	0.98852	H	3.83	0.03702	T	-9.83	0.98692	D	0.238	0.26837	-1.1265	0.01957	T	0.039	0.16634	T	9	0.0046595335	0.00098	T	8.87E-4	0.00822	T	0.099	0.28413	.	.	0.163833314356	0.15978	0.0175451517103914	0.01709	0.0105696703633	0.00974	.	.	.	0.166878	0.51329	T	-0.480772	0.00732	T	-0.466108	0.25935	T	0.141316143761438	0.16388	T	0.675932	0.28448	T	0.83102155	0.85974	0.74277425	0.84796	0.83102155	0.85975	0.74277425	0.84796	-9.371	0.70054	D	.	.	0.164	0.38444	B	.;.	.;.	1.512733	0.19433	14.26	0.80848311762995884	0.13398	0.16027	0.19196	N	AEFDBI	0.066544	0.13037	N	0.274365017922304	0.54851	3.649992	0.0173299184700063	0.40519	2.419517	0.687380783175555	0.22549	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	2.06	2.06	0.25932	0.096000	0.14986	.	.	0.481000	0.22134	0.001000	0.13787	0.653000	0.25975	0.563000	0.30483	0.0:1.0:0.0:0.0	10.187	0.42182	454	0.79125	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006363	0.000000	0.005435	0.004098	0.000000	0.008621	0.009202	0.007576	0.02632	2649.33	35	chr11	71582521	.	C	T	2649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.094;DP=826;ExcessHet=0;FS=5.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.335;SOR=1.067	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	72016041	72016041	C	G	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1462C:p.A488P,NUMA1:NM_001286561:exon16:c.G1462C:p.A488P	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0167123708693	.	0.000199681	8.257e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs556436417	1.368e-06	1.368e-06	2.723e-06	0	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.534e-05	0	0.0002	0	0	0	0	0	0.086	0.37966	T	0.163	0.31125	T	0.118	0.41009	B	0.136	0.36295	B	0.119599	0.19068	N	0.526155	1	0.81001	D	2.39	0.68882	M	2.6	0.49068	T	-1.94	0.53096	N	0.245	0.28965	-1.0245	0.22246	T	0.089	0.34160	T	10	0.08919382	0.15428	T	0.016712	0.38094	T	0.108	0.30607	0.054	0.00134	0.34936206512	0.34543	0.2939430198110377	0.29307	0.716424582878	0.61991	0.309654355049	0.11855	T	0.161761	0.57482	T	-0.216782	0.18435	T	-0.38004	0.35718	T	0.705626130104065	0.40987	D	0.881212	0.60904	D	0.27398434	0.50465	0.28336617	0.54330	0.27398434	0.50465	0.28336617	0.54329	-10.038	0.74139	D	.	.	0.481	0.64803	A	.;.;.;.;.;.	.;.;.;.;.;.	2.022338	0.25697	16.86	0.99509471557078399	0.68558	0.83935	0.43025	D	AEFGBHCI	0.399580	0.47481	N	-0.199100401297024	0.33173	1.878978	-0.166865635178497	0.32765	1.867305	0.987861424001036	0.31359	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	0.087	0.13761	0.150000	0.16082	.	.	0.599000	0.40250	0.984000	0.35821	0.907000	0.28067	0.967000	0.53440	0.2335:0.5657:0.0:0.2008	5.867	0.18028	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	38	chr11	72016041	.	C	G	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.203;DP=824;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.77;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr11	72108863	72108863	C	A	exonic	LRTOMT	.	nonsynonymous SNV	LRTOMT:NM_001145308:exon7:c.C814A:p.L272I,LRTOMT:NM_001145309:exon9:c.C814A:p.L272I,LRTOMT:NM_001145310:exon9:c.C694A:p.L232I	Deafness, autosomal recessive 63, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0881437039204	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs770337351	5.722e-06	7.524e-06	0	1.16e-05	0.0001	2.46e-06	1.78e-06	4.931e-05	3.626e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.077	0.42436	T	0.952	0.54136	P	0.368	0.43478	B	.	.	.	.	0.831165	0.81001	N	1.1	0.28011	L	-0.78	0.73631	T	-1.06	0.27669	N	0.505	0.53708	-0.3312	0.74098	T	0.350	0.71446	T	9	0.7555427	0.75954	D	0.088144	0.75075	D	0.339	0.66106	0.747	0.87821	0.7613135738	0.75914	0.5009740528096587	0.50019	0.393573632246	0.40530	0.652244329453	0.60304	T	0.247174	0.61676	T	-0.0839264	0.39074	T	-0.0890312	0.64235	T	0.605335891246796	0.36613	D	0.619338	0.23774	T	0.3136181	0.54097	0.39168718	0.63933	0.3136181	0.54097	0.39168718	0.63933	-5.474	0.41624	T	.	.	0.173	0.38426	B	.;.;.	.;.;.	4.178334	0.62878	24.5	0.99554890721983447	0.71397	0.95046	0.63241	D	AEFBCI	0.787678	0.71739	D	0.353892970041787	0.58946	4.07008	0.408507001173704	0.62094	4.419188	0.999991759378302	0.74766	0.372202	0.05800	0	0.573116	0.20632	0	0.514364	0.09456	0	0.491896	0.07777	0	.	.	5.5	4.58	0.56077	4.448000	0.59768	5.943000	0.51513	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.9268:0.0:0.0732	13.901	0.63306	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	33	chr11	72108863	.	C	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-1.68;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	18	0	1	0
chr11	72195749	72195749	T	C	splicing	FOLR1	NM_016725:exon4:c.493+2T>C;NM_016724:exon5:c.493+2T>C;NM_000802:exon4:c.493+2T>C;NM_016729:exon3:c.493+2T>C	.	.	Neurodegeneration due to cerebral folate transport deficiency, Autosomal recessive	0	1478	43	1	0	45	0.014995	0.9990	0.734	.	101647	FOLR1-related_disorder|Inborn_genetic_diseases|Seizure|Cerebral_folate_transport_deficiency|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0034	0.0005	0.0028	0.0001	0.0006	0.0021	0.0066	0.0137	0.0032018	495	154602	rs144637717	0.0028	0.0028	0.0024	0.0032	0.0130	0.0027	0.0027	0.0123	0.0121	0.0002	0.0015	0.0068	2.519e-05	0.0004	0.0085	0.0022	0.0035	0.0130	0.0018	0.0018	0.0014	0.0022	0.0137	0.0016	0.0015	0.0111	0.0101	0.0004	0	0.0009	0.0052	0	0.0007	0	0.0020	0.0033	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242793	0.14994	T	-0.109855	0.62623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.260422	0.64748	24.7	0.97734597925983624	0.35640	0.98800	0.87016	D	AEFDGBI	.	.	.	0.941507637658203	0.93639	12.17477	0.736215265635132	0.85123	8.487886	0.999912376900708	0.45857	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.924668	0.58650	5.08	5.08	0.68373	4.313000	0.58952	4.786000	0.44868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.986	0.63851	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2302.33	40	chr11	72195749	.	T	C	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.422;DP=811;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.57;SOR=0.898	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1470	18	0	1	0
chr11	72231185	72231185	G	A	exonic	INPPL1	.	nonsynonymous SNV	INPPL1:NM_001567:exon12:c.G1493A:p.R498H	Opsismodysplasia, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	.	1385487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.496	0.060888426515	.	.	6.066e-05	0	8.784e-05	0.0001	0	7.847e-05	0	0	4.53e-05	7	154602	rs770428487	3.567e-05	3.557e-05	3.686e-05	3.448e-05	0.0001	2.77e-05	2.508e-05	4.907e-05	3.165e-05	0	4.49e-05	0	0.0001	0	0	3.87e-05	0	2.324e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.153	0.24372	T	0.013	0.63109	D	0.994	0.66517	D	0.829	0.59562	P	0.000033	0.55875	D	0.123775	0.994889	0.42456	D	0.89	0.21648	L	-1.4	0.80474	T	-2.44	0.53420	N	0.543	0.59478	-0.1662	0.78520	T	0.438	0.77739	T	10	0.47274908	0.59961	T	0.060888	0.68149	D	0.496	0.78100	0.641	0.77795	0.64185220107	0.63889	0.5016137311315139	0.50083	1.87614662658	0.92565	0.619391798973	0.55643	T	0.584294	0.86435	D	-0.125169	0.32280	T	-0.148273	0.59397	T	0.248966146068366	0.22827	T	0.968003	0.88371	D	0.50964785	0.67659	0.37591457	0.62724	0.50964785	0.67660	0.37591457	0.62724	-8.64	0.69082	D	.	.	0.134	0.29060	B	.;.;.	.;.;.	4.867362	0.79709	27.2	0.99944130915381069	0.99868	0.90212	0.51212	D	AEFDGBCI	0.524506	0.54766	D	0.560027501425576	0.70694	5.539415	0.634383525324564	0.77455	6.682222	0.999999992150314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	5.81	0.92413	4.178000	0.58079	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1422:0.8578:0.0	15.092	0.71871	802	0.44336	Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	49	chr11	72231185	.	G	A	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.512;DP=743;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.992;SOR=0.986	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	72235425	72235425	G	A	exonic	INPPL1	.	nonsynonymous SNV	INPPL1:NM_001567:exon23:c.G2633A:p.R878H	Opsismodysplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2405482	Inborn_genetic_diseases|Opsismodysplasia	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009785,MedGen:C0432219,OMIM:258480,Orphanet:2746	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0187792447969	.	.	0.0001	0	0.0002	0	0	3.036e-05	0	0.0005	8.41e-05	13	154602	rs778999359	6.297e-05	6.293e-05	3.95e-05	8.667e-05	0.0008	5.231e-05	4.848e-05	0.0006	0.0006	0	4.474e-05	0	0	0	0	1.799e-05	4.969e-05	0.0008	7.226e-05	7.218e-05	6.427e-05	8.062e-05	0.0015	3.97e-05	3.127e-05	0.0007	0.0005	4.816e-05	0	0	0	0	0	0	2.941e-05	0	0.0015	0.01	0.58626	D	0.014	0.63918	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	0.99993	0.54805	D	1.905	0.50856	L	1.27	0.36146	T	-2.35	0.51968	N	0.778	0.77507	-0.8580	0.51406	T	0.176	0.52115	T	10	0.3947121	0.55143	T	0.018779	0.40954	T	0.159	0.41286	0.295	0.25881	0.366659145958	0.36277	0.7822260453062077	0.78173	1.91959159773	0.92981	0.686351537704	0.65181	T	0.651129	0.89415	D	-0.175277	0.24442	T	-0.125387	0.61356	T	0.366608560085297	0.27666	T	0.930207	0.74183	D	0.27064458	0.50136	0.17709553	0.40289	0.27064458	0.50136	0.17709553	0.40288	-9.48	0.71542	D	.	.	0.238	0.61973	B	.;.;.	.;.;.	5.223894	0.87673	29.3	0.9995958152865726	0.99994	0.97743	0.76812	D	AEFDGBCIJ	0.931282	0.91988	D	0.735279425959592	0.81943	7.642304	0.747208293961936	0.85946	8.735362	0.999999999999947	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	6.501000	0.73603	11.761000	0.95631	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.772	0.88406	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1055.33	40	chr11	72235425	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=739;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.189;SOR=1.161	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr11	72693710	72693710	C	A	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon25:c.G2872T:p.A958S,ARAP1:NM_001369489:exon26:c.G3055T:p.A1019S,ARAP1:NM_015242:exon26:c.G3055T:p.A1019S,ARAP1:NM_001040118:exon28:c.G3790T:p.A1264S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0160963777566	.	0.000998403	0.0009	0	0	0	0	0	0.0038	0.0054	0.0004916	76	154602	rs553453512	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	4.542e-05	0	0	0	0	1.082e-05	0.0003	0.0030	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0.0005	0.0056	0.184	0.21801	T	0.126	0.35455	T	0.006	0.13644	B	0.024	0.20255	B	0.000391	0.44960	D	0.191168	0.990234	0.44513	D	1.275	0.32135	L	3.23	0.45248	T	-1.35	0.33598	N	0.256	0.32370	-1.0668	0.10131	T	0.081	0.32090	T	10	0.0057937205	0.00129	T	0.016096	0.37187	T	0.064	0.18567	0.338	0.32816	0.290222751274	0.28632	0.324479613952735	0.32360	0.294275022002	0.31851	0.429066240788	0.29081	T	0.015758	0.32597	T	-0.447202	0.01173	T	-0.418202	0.31281	T	0.0248348212399758	0.01251	T	0.831217	0.49813	T	0.067774594	0.14708	0.09187901	0.21624	0.067774594	0.14707	0.09187901	0.21623	-2.718	0.13686	T	.	.	0.086	0.14751	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.528989	0.32697	19.12	0.96869999617277103	0.31415	0.90593	0.51898	D	AEFDGBHCI	0.469404	0.51580	N	-0.190518290431078	0.33527	1.903189	-0.0208205726047793	0.38776	2.289397	0.999999983732275	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	0.797000	0.26660	3.294000	0.37329	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.9147:0.0:0.0853	10.805	0.45716	440	0.80101	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1045.33	33	chr11	72693710	.	C	A	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=751;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.293;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	72921844	72921844	A	G	exonic	FCHSD2	.	nonsynonymous SNV	FCHSD2:NM_014824:exon9:c.T812C:p.L271S	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0157151474916	0.0002	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0010	0.000194	30	154602	rs143760818	0.0001	0.0001	9.408e-05	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	8.968e-05	2.251e-05	0.0002	0	0	0.0002	9.367e-05	0.0001	0.0009	0.0001	0.0001	0.0002	0.0001	0.0010	9.737e-05	8.252e-05	0.0004	0.0003	2.406e-05	0	0	0.0003	0	0	0	0.0002	0	0.0010	0.502	0.08359	T	0.329	0.26306	T	0.998	0.77913	D	0.905	0.71005	P	0.000029	0.55875	D	0.073752	0.999968	0.52935	D	1.825	0.47900	L	2.52	0.14160	T	-0.81	0.22944	N	0.797	0.81459	-1.0993	0.04177	T	0.064	0.26349	T	10	0.30111825	0.47656	T	0.015715	0.36608	T	0.361	0.68141	.	.	0.762826085294	0.76066	0.6344885560362534	0.63382	0.95540662763	0.72788	0.683240532875	0.64734	T	0.037804	0.24611	T	-0.114295	0.34059	T	-0.00307426	0.70136	D	0.143607044685658	0.16582	T	0.90001	0.67605	D	0.08148927	0.18726	0.14753988	0.34911	0.08148927	0.18726	0.14753988	0.34910	-7.068	0.54529	T	.	.	0.208	0.58808	B	.;.;.;.;.	.;.;.;.;.	4.857569	0.79462	27.1	0.98231938592276979	0.39396	0.98701	0.85758	D	AEFDBI	0.902548	0.85056	D	0.566102245745396	0.71067	5.59507	0.615298504486103	0.76051	6.420195	0.999979819416166	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.677038	0.66255	0	.	.	5.88	5.88	0.94564	8.281000	0.89833	11.133000	0.86854	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.114	0.72062	824	0.40336	F-BAR domain;F-BAR domain;F-BAR domain;F-BAR domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1343.33	35	chr11	72921844	.	A	G	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=734;ExcessHet=0;FS=6.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.366;SOR=1.156	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr11	73234860	73234860	G	A	exonic	P2RY2	.	nonsynonymous SNV	P2RY2:NM_002564:exon3:c.G701A:p.G234D,P2RY2:NM_176071:exon3:c.G701A:p.G234D,P2RY2:NM_176072:exon3:c.G701A:p.G234D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0649460453161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.12386	T	0.678	0.06147	T	0.987	0.61912	D	0.831	0.59664	P	.	.	.	.	1	0.08975	N	1.82	0.47800	L	0.02	0.62318	T	-0.55	0.16799	N	0.261	0.29544	-0.9525	0.40538	T	0.172	0.51373	T	9	0.2770656	0.45271	T	0.064946	0.69430	D	0.124	0.34239	0.421	0.46365	0.839110781246	0.83757	0.6817894016080658	0.68117	1.00363903737	0.74507	0.635435342789	0.57916	T	0.059761	0.31203	T	-0.119362	0.33228	T	-0.409232	0.32315	T	0.272817015647888	0.23868	T	0.750425	0.37198	T	0.105611786	0.24970	0.111851804	0.26984	0.105611786	0.24970	0.111851804	0.26983	-4.789	0.34463	T	.	.	0.150	0.33273	B	.;.;.	.;.;.	3.460545	0.48228	22.6	0.99210196829586628	0.55563	0.08692	0.14585	N	AEFDBI	0.151437	0.27592	N	-0.288325999231914	0.29597	1.642802	-0.397168851331344	0.25081	1.37721	0.991430480840398	0.32487	0.615465	0.37627	0	0.573888	0.26702	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.32	2.28	0.27583	0.822000	0.27007	6.537000	0.55873	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.400000	0.26782	0.0:0.1735:0.4915:0.335	6.089	0.19206	547	0.72440	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1937.33	188	chr11	73234860	.	G	A	1937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.679;DP=2440;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.517;SOR=0.696	GT:AD:DP:GQ:PL	0/0:161,0:161:99:0,120,1800	18	0	1	0
chr11	73297063	73297063	C	T	exonic	P2RY6	.	nonsynonymous SNV	P2RY6:NM_001277208:exon2:c.C848T:p.P283L,P2RY6:NM_001277204:exon3:c.C545T:p.P182L,P2RY6:NM_001277206:exon3:c.C545T:p.P182L,P2RY6:NM_001277207:exon3:c.C545T:p.P182L,P2RY6:NM_176797:exon3:c.C545T:p.P182L,P2RY6:NM_001277205:exon4:c.C545T:p.P182L,P2RY6:NM_176796:exon4:c.C545T:p.P182L,P2RY6:NM_176798:exon4:c.C545T:p.P182L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00867232483892	.	.	9.352e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs754709234	2.829e-05	3.078e-05	2.061e-05	3.604e-05	0.0003	2.105e-05	1.895e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	9.893e-06	3.316e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.58626	T	0.321	0.51737	T	0.375	0.34209	B	0.094	0.30180	B	0.001698	0.38271	N	0.260319	0.999218	0.46353	D	1.09	0.27330	L	1.72	0.26588	T	-1.41	0.46503	N	0.412	0.47115	-1.0802	0.07310	T	0.041	0.17657	T	10	0.07942459	0.12776	T	0.008672	0.22903	T	0.061	0.17616	0.626	0.76141	0.591348262392	0.58811	0.37500987727446883	0.37414	0.528847580626	0.50448	0.447234630585	0.31567	T	0.092526	0.39022	T	-0.409188	0.02013	T	-0.476115	0.24860	T	0.0603960972414693	0.07231	T	0.861914	0.55630	D	0.07989346	0.18276	0.09676421	0.23005	0.07989346	0.18276	0.09676421	0.23005	-5.852	0.45025	T	.	.	0.286	0.56258	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.729475	0.35726	19.97	0.89301071391900544	0.18679	0.61836	0.31601	D	AEFBI	0.498468	0.53256	N	-0.450521235021549	0.23722	1.275894	-0.41590657418473	0.24530	1.343772	0.999999885865437	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.42	4.42	0.52775	1.541000	0.35732	7.476000	0.59206	0.549000	0.26987	0.004000	0.16614	0.947000	0.28924	0.634000	0.32262	0.0:1.0:0.0:0.0	16.551	0.84321	558	0.71484	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2277.33	33	chr11	73297063	.	C	T	2277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.47;DP=801;ExcessHet=0;FS=3.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=1.35;SOR=1.018	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	73309920	73309920	C	A	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C1282A:p.L428M	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.022879188851	0.0012	0.000599042	0.0011	0.0002	0.0007	0.0001	0.0002	0.0011	0	0.0025	0.0011837	183	154602	rs141928433	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0026	0.0025	0.0002	0.0006	3.826e-05	0.0001	5.673e-05	0.0007	0.0024	0.0023	0.0029	0.0011	0.0011	0.0012	0.0010	0.0027	0.0010	0.0010	0.0018	0.0017	0.0003	0	0.0004	0.0003	0	0	0	0.0020	0.0014	0.0027	0.008	0.58626	D	0.096	0.39340	T	0.93	0.51791	P	0.459	0.46380	P	0.067114	0.21764	N	0.237424	0.999904	0.19694	N	1.5	0.37844	L	0.31	0.58613	T	-0.14	0.09135	N	0.196	0.21580	-0.9539	0.40292	T	0.122	0.42399	T	10	0.010348976	0.00231	T	0.022879	0.45806	T	0.112	0.31546	.	.	0.456980322645	0.45321	0.11194659824188508	0.11123	0.551347579142	0.51977	0.367632269859	0.20492	T	0.011581	0.10309	T	-0.455048	0.01054	T	-0.431348	0.29783	T	0.0191281497370507	0.00621	T	0.377662	0.09049	T	0.080646135	0.18489	0.09648617	0.22929	0.080646135	0.18489	0.09648617	0.22928	-6.675	0.51622	T	.	.	0.119	0.24566	B	.	.	1.533409	0.19672	14.38	0.98576240135368653	0.43180	0.37349	0.25741	N	AEFDGBCI	.	.	.	-0.0329546850206412	0.40366	2.396044	-0.0105770772782707	0.39235	2.323333	0.999990814644642	0.74766	0.542737	0.22433	0	0.405561	0.06353	1	0.619478	0.44681	0	0.638787	0.57140	0	.	.	5.13	4.0	0.45673	0.220000	0.17445	0.851000	0.22138	-0.176000	0.10722	0.000000	0.06391	0.941000	0.28781	0.965000	0.52897	0.0:0.8966:0.0:0.1034	11.373	0.48949	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	2066.33	34	chr11	73309920	.	C	A	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=905;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.06;ReadPosRankSum=1.41;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1264	18	0	1	0
chr11	73394683	73394683	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.C995T:p.A332V,RELT:NM_152222:exon9:c.C995T:p.A332V	.	412	1079	29	2	0	33	0.0150616	.	.	.	3185193	not_provided|RELT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	0.0399008955017	0.0019	0.00179712	0.0023	0.0006	0.0010	0	0.0005	0.0020	0.0034	0.0071	0.0020828	322	154602	rs12362779	0.0017	0.0017	0.0015	0.0020	0.0218	0.0017	0.0016	0.0187	0.0176	0.0004	0.0012	0.0027	2.519e-05	0.0003	0.0218	0.0013	0.0022	0.0070	0.0012	0.0012	0.0013	0.0011	0.0052	0.0011	0.0010	0.0036	0.0031	0.0003	0.0022	0.0007	0.0017	0.0002	0.0002	0.0034	0.0017	0.0019	0.0052	0.052	0.39097	T	0.148	0.32675	T	0.003	0.11197	B	0.003	0.08700	B	0.008621	0.30756	N	0.263815	0.775952	0.34208	D	1.655	0.42436	L	-1.02	0.76300	T	-1.48	0.36189	N	0.176	0.18920	-0.3948	0.72191	T	0.327	0.69538	T	10	0.0037205517	0.00069	T	0.039901	0.59071	D	0.175	0.44197	.	.	0.485705203746	0.48201	0.23113276701147592	0.23028	0.106959515568	0.12079	0.390446007252	0.23733	T	0.01866	0.15005	T	-0.406553	0.02096	T	-0.353036	0.38857	T	0.015432057305191	0.00346	T	0.692231	0.30167	T	0.09462336	0.22252	0.11955887	0.28857	0.11956615	0.28150	0.10118702	0.24215	-4.297	0.28135	T	0.07821221755293352	0.03736	0.075	0.05711	B	.;.	.;.	1.552360	0.19892	14.49	0.99620177263976495	0.75353	0.42689	0.26933	N	AEFDGBCI	0.107461	0.21410	N	-0.362300907702796	0.26824	1.466876	-0.280212426500318	0.28750	1.605442	0.999999961424238	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.87	3.96	0.45097	1.023000	0.29668	1.786000	0.28758	0.599000	0.40250	0.002000	0.15269	0.937000	0.28687	0.057000	0.15750	0.0:0.92:0.0:0.08	12.717	0.56492	393	0.83123	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015625	0.015306	0.014946	0.026316	0.000000	0.025862	0.015244	0.003788	0.02632	1179.33	33	chr11	73394683	.	C	T	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.769;DP=737;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.871;SOR=0.386	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	18	0	1	0
chr11	73395459	73395459	G	A	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon11:c.G1261A:p.V421I,RELT:NM_152222:exon11:c.G1261A:p.V421I	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0546604434152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407636554	0	1.754e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.819	0.45682	P	0.157	0.34536	B	0.174315	0.17283	N	0.427422	0.738441	0.29759	N	1.04	0.26193	L	-1.09	0.77206	T	-0.1	0.08495	N	0.117	0.10626	-0.6482	0.62792	T	0.216	0.57771	T	10	0.15258184	0.28819	T	0.05466	0.65942	D	0.260	0.57221	0.227	0.15257	0.260735089382	0.25697	0.3191258488844347	0.31825	0.480290553402	0.47047	0.435096591711	0.29906	T	0.019247	0.15372	T	0.042003	0.57306	T	-0.177442	0.56758	T	0.64197097231447	0.38120	D	0.668433	0.27736	T	0.13769594	0.31873	0.13978565	0.33341	0.13769594	0.31873	0.13978565	0.33340	-3.088	0.11159	T	.	.	0.098	0.16099	B	.;.	.;.	3.470952	0.48428	22.6	0.99826219759926227	0.90852	0.82598	0.41803	D	AEFGBCI	0.116020	0.22787	N	-0.0208421082589376	0.40912	2.437953	0.0256166376676041	0.40908	2.448952	0.999996404913469	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.05	3.14	0.35196	3.516000	0.53194	5.838000	0.50223	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1159:0.0:0.8841:0.0	7.410	0.26186	393	0.83123	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2082.33	36	chr11	73395459	.	G	A	2082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=838;ExcessHet=0;FS=2.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.64;SOR=0.925	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	74033924	74033924	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6236T:p.T2079M	.	421	1071	30	0	0	30	0.0138122	.	.	.	1291895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00439297	0.0110	0	0.0052	0	0	0.0012	0.0053	0.0201	0.0014036	217	154602	rs184111772	0.0019	0.0018	0.0014	0.0024	0.0184	0.0018	0.0018	0.0176	0.0173	0.0002	0.0015	0.0008	0	0	0.0097	0.0008	0.0021	0.0184	0.0010	0.0010	0.0008	0.0013	0.0149	0.0009	0.0008	0.0122	0.0111	0.0002	0	0.0011	0.0009	0.0002	0	0.0102	0.0007	0.0019	0.0149	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000590	0.43095	D	0.096031	0.882274	0.35776	D	2.705	0.79137	M	2.64	0.12780	T	-2.09	0.47683	N	0.574	0.59648	-1.0499	0.14425	T	0.096	0.36159	T	7	0.0060827434	0.00137	T	.	.	.	0.184	0.45763	.	.	0.337378238328	0.33340	0.4445737345665607	0.44375	.	.	.	.	.	0.053507	0.29462	T	-0.286743	0.09966	T	-0.169726	0.57469	T	0.0842597628729641	0.10523	T	0.873413	0.58193	D	0.089841336	0.21004	0.21382648	0.45909	0.075775586	0.17095	0.17880712	0.40573	-5.338	0.40318	T	0.8030745479137866	0.87944	0.097	0.15788	B	.	.	4.330860	0.66357	25.0	0.9991052077426007	0.98022	0.97068	0.72503	D	AEFGBI	0.573744	0.57681	D	0.515381272732333	0.67998	5.157176	0.613423312346808	0.75913	6.395608	0.999999989327057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	5.553000	0.66992	5.818000	0.50061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.338	0.94317	327	0.86637	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2813.33	229	chr11	74033924	.	G	A	2813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=876;ExcessHet=0;FS=0.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.052;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1348	18	0	1	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V	.	428	1046	45	3	0	51	0.0237984	.	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2378.33	40	chr11	74034038	.	G	A	2378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=839;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.168;SOR=0.844	GT:AD:DP:GQ:PL	0/1:103,89:192:99:2392,0,2761	18	0	1	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.05263	2557.83	36	chr11	74085833	.	T	C	2557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.135;DP=953;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.446;SOR=0.68	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	17	0	2	0
chr11	74286265	74286265	T	C	exonic	P4HA3	.	nonsynonymous SNV	P4HA3:NM_001288748:exon6:c.A896G:p.D299G,P4HA3:NM_182904:exon6:c.A896G:p.D299G	.	428	1085	8	1	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0116324992349	0.0049	0.00339457	0.0047	0.0015	0.0043	0	0.0005	0.0070	0.0044	0.0019	0.004573	707	154602	rs148426172	0.0053	0.0053	0.0054	0.0053	0.0064	0.0052	0.0052	0.0062	0.0062	0.0012	0.0039	0.0029	0	0.0006	0.0043	0.0064	0.0045	0.0012	0.0046	0.0046	0.0049	0.0043	0.0071	0.0043	0.0042	0.0064	0.0061	0.0012	0.0351	0.0071	0.0052	0	0.0002	0.0170	0.0069	0.0052	0.0015	0.101	0.42199	T	0.047	0.48855	D	0.009	0.15093	B	0.007	0.12992	B	0.000384	0.44960	D	0.250905	0.999397	0.46900	D	2.61	0.76335	M	0.44	0.57261	T	-4.26	0.76174	D	0.671	0.67908	-0.9690	0.37407	T	0.112	0.40099	T	10	0.008980304	0.00203	T	0.011632	0.29446	T	0.197	0.47942	.	.	0.509996732195	0.50639	0.6552487485365865	0.65460	0.104201529825	0.11789	0.497474074364	0.38476	T	0.377488	0.74066	T	-0.185028	0.22991	T	-0.0317333	0.68253	D	0.0441117547055627	0.04441	T	0.814619	0.46840	T	0.28914946	0.51913	0.29167005	0.55192	0.28914946	0.51913	0.29167005	0.55191	-6.458	0.49961	T	.	.	0.108	0.30076	B	.;.	.;.	3.446737	0.47979	22.5	0.99010314062408489	0.50356	0.93312	0.57880	D	AEFDBHI	0.612782	0.60072	D	-0.00428043748133425	0.41662	2.495938	0.138416787372339	0.46531	2.897614	0.999999400429746	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.81	4.67	0.58089	4.842000	0.62530	3.979000	0.40889	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1508:0.8492	11.473	0.49529	566	0.70798	.;.	.	.	.	.	rs148426172	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.040404	0.005435	0.002924	0.050000	0.017241	0.006173	0.000000	0.02632	506.33	34	chr11	74286265	.	T	C	506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.08;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	18	0	1	0
chr11	74338483	74338483	G	A	exonic	PGM2L1	.	nonsynonymous SNV	PGM2L1:NM_173582:exon13:c.C1751T:p.A584V	.	.	.	.	.	.	.	.	.	.	.	3572142	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0174806774444	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779736186	7.718e-06	2.668e-05	5.559e-06	9.92e-06	7.273e-05	4.14e-06	3.03e-06	3.108e-05	2.112e-05	0	0	0	0	0	0	2.764e-06	3.411e-05	7.273e-05	6.573e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.035	0.52389	D	0.552	0.38158	P	0.187	0.36167	B	0.000003	0.62929	D	0.057904	0.99899	0.45836	D	1.795	0.47270	L	1.57	0.29342	T	-2.94	0.61435	D	0.462	0.49874	-1.0754	0.08266	T	0.074	0.29992	T	10	0.31948593	0.49335	T	0.017481	0.39195	T	0.118	0.32913	.	.	0.571763288708	0.56843	0.7555979874789899	0.75506	1.44567333393	0.86053	0.56332975626	0.47737	T	0.407015	0.76275	T	-0.191428	0.22048	T	-0.330603	0.41403	T	0.868116796016693	0.51810	D	0.909209	0.67884	D	0.1814381	0.39314	0.19325171	0.42883	0.1814381	0.39314	0.19325171	0.42882	-6.777	0.52388	T	.	.	0.189	0.40650	B	.	.	4.252240	0.64550	24.7	0.9989732289469796	0.96971	0.98421	0.82603	D	AEFGBI	0.596283	0.59051	D	0.372372768065801	0.59930	4.176716	0.476068403700114	0.66409	4.948152	0.995531597725823	0.34180	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	6.649000	0.74216	11.668000	0.94068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.1603:0.8397:0.0	13.163	0.58978	422	0.81333	Alpha-D-phosphohexomutase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	34	chr11	74338483	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=691;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-2.252;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1041	18	0	1	0
chr11	74457436	74457436	G	A	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.C128T:p.T43I	Brugada syndrome 6	.	.	.	.	.	.	.	.	.	.	3687354	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0507872599031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.026	0.55759	D	0.001	0.07471	B	0.005	0.11217	B	0.067248	0.21754	N	0.461220	0.809135	0.34616	D	1.04	0.26193	L	-2.24	0.87194	D	-2.17	0.87380	N	0.112	0.17140	-0.2750	0.75676	T	0.488	0.80510	T	10	0.10621372	0.19672	T	0.050787	0.64388	D	0.115	0.32236	0.154	0.05752	0.916206938999	0.91536	0.7769852440336098	0.77648	0.171069554793	0.19272	0.541518092155	0.44659	T	0.292122	0.66485	T	-0.0384958	0.46172	T	-0.293073	0.45452	T	0.208157509565353	0.20857	T	0.675032	0.35555	T	0.07456659	0.16742	0.11749837	0.28364	0.07456659	0.16742	0.11749837	0.28363	-6.965	0.53778	T	0.21400784234455186	0.28746	0.137	0.33435	B	.;.;.;.;.	.;.;.;.;.	2.462965	0.31732	18.83	0.99760698293559735	0.85011	0.42635	0.26922	N	AEFDBI	0.282001	0.39544	N	-0.567127880073821	0.19950	1.048096	-0.545289632528768	0.20931	1.129949	0.999859514628779	0.44174	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.37	2.45	0.28953	1.007000	0.29462	5.154000	0.47766	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.916000	0.45140	0.1632:0.1473:0.6895:0.0	6.734	0.22585	460	0.78750	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	39	chr11	74457436	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.738;DP=807;ExcessHet=0;FS=1.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.051;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	18	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V	.	423	1047	49	3	0	55	0.0255933	.	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014706	0.005319	0.024194	0.013274	0.000000	0.000000	0.011765	0.037500	0.02632	1903.33	34	chr11	74492211	.	T	A	1903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.438;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	74497344	74497344	C	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.C439T:p.R147C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.823e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs780783153	6.874e-05	3.499e-05	0.0001	4.026e-05	0.0002	4.512e-05	3.843e-05	4.755e-05	3.807e-05	0.0002	3.666e-05	0	0.0002	0	0	8.179e-05	0.0001	1.674e-05	9.211e-05	9.197e-05	0.0001	6.733e-05	0.0002	5.534e-05	4.37e-05	9.578e-05	6.972e-05	0.0002	0	6.55e-05	0	0	0	0	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	474.33	34	chr11	74497344	.	C	T	474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.64;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	18	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	3066.83	45	chr11	74835878	.	G	T	3066.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=856;ExcessHet=0.119;FS=6.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.187;SOR=0.389	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	17	0	2	0
chr11	74844254	74844254	G	C	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon8:c.C973G:p.Q325E,XRRA1:NM_001378167:exon10:c.C802G:p.Q268E,XRRA1:NM_001378168:exon10:c.C1108G:p.Q370E,XRRA1:NM_001378172:exon12:c.C898G:p.Q300E,XRRA1:NM_001378173:exon12:c.C898G:p.Q300E,XRRA1:NM_001378176:exon12:c.C802G:p.Q268E,XRRA1:NM_001378162:exon13:c.C973G:p.Q325E,XRRA1:NM_001378163:exon13:c.C898G:p.Q300E,XRRA1:NM_001378164:exon13:c.C898G:p.Q300E,XRRA1:NM_001378166:exon13:c.C802G:p.Q268E,XRRA1:NM_001378169:exon13:c.C757G:p.Q253E,XRRA1:NM_001378170:exon13:c.C973G:p.Q325E,XRRA1:NM_001378175:exon13:c.C802G:p.Q268E,XRRA1:NM_001270380:exon14:c.C1672G:p.Q558E,XRRA1:NM_001270381:exon14:c.C1108G:p.Q370E,XRRA1:NM_001378159:exon14:c.C1621G:p.Q541E,XRRA1:NM_001378160:exon14:c.C1621G:p.Q541E,XRRA1:NM_001378165:exon14:c.C802G:p.Q268E,XRRA1:NM_001378174:exon14:c.C802G:p.Q268E,XRRA1:NM_001378161:exon15:c.C1063G:p.Q355E,XRRA1:NM_001378158:exon16:c.C1912G:p.Q638E,XRRA1:NM_001378157:exon17:c.C1957G:p.Q653E,XRRA1:NM_182969:exon17:c.C1933G:p.Q645E	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0079	0.00898562	0.0021	0.0242	0.0010	0	0	3.001e-05	0	0	0.0019922	308	154602	rs76814368	0.0008	0.0008	0.0010	0.0006	0.0283	0.0008	0.0007	0.0268	0.0262	0.0283	0.0015	0	0	0	0.0015	1.799e-05	0.0018	1.16e-05	0.0078	0.0078	0.0081	0.0075	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0	5.882e-05	0.0076	0.0002	0.239	0.17761	T	0.166	0.32675	T	0.003	0.11197	B	0.002	0.06944	B	0.746933	0.09731	N	0.885835	0.999977	0.18612	N	0.345	0.11182	N	0.85	0.47477	T	-0.75	0.22294	N	0.173	0.19055	-1.0320	0.19809	T	0.030	0.12717	T	10	0.0027483702	0.00043	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10453585375580039	0.10383	0.046134700615	0.05010	0.259015291929	0.04774	T	0.002988	0.02391	T	-0.637843	0.00086	T	-0.668721	0.07690	T	0.00179090411417954	0.00018	T	0.0950905	0.00784	T	0.05813854	0.11661	0.07750799	0.17274	0.05813854	0.11660	0.07750799	0.17274	-2.328	0.04894	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.528858	0.08976	5.757	0.92257041600877154	0.21638	0.26320	0.22959	N	AEFDBCI	0.135792	0.25625	N	-0.96260388273269	0.09411	0.445308	-0.835034139739382	0.13647	0.7091168	0.997705054035123	0.35927	0.460665	0.09802	0	0.550933	0.16991	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	5.0	1.94	0.25058	0.433000	0.21196	0.867000	0.22280	-0.858000	0.02657	0.013000	0.18845	0.017000	0.20586	0.735000	0.35267	0.0875:0.0:0.485:0.4275	6.225	0.19915	644	0.63734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1221.33	34	chr11	74844254	.	G	C	1221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.1;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	74848462	74848462	C	A	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon6:c.G397T:p.V133L,XRRA1:NM_001378167:exon8:c.G226T:p.V76L,XRRA1:NM_001378168:exon8:c.G532T:p.V178L,XRRA1:NM_001378172:exon10:c.G322T:p.V108L,XRRA1:NM_001378173:exon10:c.G322T:p.V108L,XRRA1:NM_001378176:exon10:c.G226T:p.V76L,XRRA1:NM_001378162:exon11:c.G397T:p.V133L,XRRA1:NM_001378163:exon11:c.G322T:p.V108L,XRRA1:NM_001378164:exon11:c.G322T:p.V108L,XRRA1:NM_001378166:exon11:c.G226T:p.V76L,XRRA1:NM_001378169:exon11:c.G181T:p.V61L,XRRA1:NM_001378170:exon11:c.G397T:p.V133L,XRRA1:NM_001378175:exon11:c.G226T:p.V76L,XRRA1:NM_001270380:exon12:c.G1096T:p.V366L,XRRA1:NM_001270381:exon12:c.G532T:p.V178L,XRRA1:NM_001378159:exon12:c.G1045T:p.V349L,XRRA1:NM_001378160:exon12:c.G1045T:p.V349L,XRRA1:NM_001378165:exon12:c.G226T:p.V76L,XRRA1:NM_001378174:exon12:c.G226T:p.V76L,XRRA1:NM_001378161:exon13:c.G487T:p.V163L,XRRA1:NM_001378158:exon14:c.G1336T:p.V446L,XRRA1:NM_001378157:exon15:c.G1381T:p.V461L,XRRA1:NM_182969:exon15:c.G1357T:p.V453L	.	.	.	.	.	.	.	.	0.9840	0.79	.	4102619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	.	.	.	1.156e-05	0	0	0	0	0	0	9.526e-05	6.5e-06	1	154602	rs746507275	1.516e-05	1.642e-05	1.369e-05	1.666e-05	0.0007	9.93e-06	8.48e-06	0.0002	0.0001	0	2.288e-05	0	0	0	0.0007	1.086e-05	1.668e-05	4.697e-05	2.628e-05	2.625e-05	2.571e-05	2.687e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.817	0.74454	P	0.000001	0.62929	D	0.000000	0.980045	0.39625	D	2.11	0.58565	M	0.17	0.60485	T	-1.88	0.44094	N	0.623	0.66272	-0.6420	0.63060	T	0.339	0.70526	T	10	0.621803	0.68019	D	0.06576	0.69676	D	0.155	0.40530	0.197	0.10975	0.638697055951	0.63572	0.3358150894898281	0.33494	0.0792000987712	0.08910	0.466926574707	0.34259	T	0.056151	0.30207	T	-0.047546	0.44821	T	-0.306073	0.44079	T	0.86255419254303	0.51285	D	0.779122	0.41328	T	0.39052942	0.60070	0.45884475	0.68560	0.39052942	0.60070	0.45884475	0.68560	-2.997	0.11296	T	.	.	0.557	0.69362	A	.;.;.	.;.;.	4.925329	0.81151	27.5	0.99355666822980326	0.60779	0.85696	0.44857	D	AEFDBCI	0.394118	0.47150	N	0.232929923570568	0.52800	3.452061	0.138610846177606	0.46543	2.898483	0.999333777195799	0.39185	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	4.75	3.84	0.43422	2.208000	0.42436	5.746000	0.49600	-0.257000	0.07002	1.000000	0.71638	1.000000	0.68203	0.152000	0.20376	0.0:0.8992:0.0:0.1008	8.998	0.35225	652	0.62785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1156.33	34	chr11	74848462	.	C	A	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.375;DP=745;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.411;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr11	74852004	74852004	C	T	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378167:exon6:c.G94A:p.V32M,XRRA1:NM_001378168:exon6:c.G400A:p.V134M,XRRA1:NM_001378176:exon8:c.G94A:p.V32M,XRRA1:NM_001378166:exon9:c.G94A:p.V32M,XRRA1:NM_001378175:exon9:c.G94A:p.V32M,XRRA1:NM_001270381:exon10:c.G400A:p.V134M,XRRA1:NM_001378165:exon10:c.G94A:p.V32M,XRRA1:NM_001378174:exon10:c.G94A:p.V32M,XRRA1:NM_001378157:exon13:c.G1249A:p.V417M,XRRA1:NM_182969:exon13:c.G1225A:p.V409M	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0008	0.00339457	0.0066	0.0003	0.0015	0	0.0709	0.0044	0.0179	0.0001	0.0054851	848	154602	rs148055073	0.0035	0.0035	0.0037	0.0034	0.0013	0.0034	0.0034	0.0011	0.0011	0.0002	0.0013	0.0007	0	0.0661	0.0002	0.0012	0.0036	0.0002	0.0062	0.0062	0.0038	0.0088	0.0022	0.0059	0.0057	0.0019	0.0018	0.0002	0	0.0009	0	0.0002	0.0724	0	0.0022	0.0038	0	0.036	0.56456	D	0.012	0.63918	D	0.998	0.73220	D	0.921	0.65636	D	.	.	.	.	1	0.81001	D	1.935	0.51832	L	1.82	0.36512	T	-1.27	0.37375	N	0.609	0.62611	-0.8684	0.50650	T	0.104	0.38267	T	9	0.00514549	0.00112	T	.	.	.	0.119	0.33137	.	.	0.505885190548	0.50227	0.40915233416417657	0.40831	0.308722435174	0.33184	0.537046790123	0.44029	T	0.001812	0.01233	T	-0.383151	0.02976	T	-0.321918	0.42365	T	0.0297145577934278	0.01945	T	0.865813	0.56549	D	0.09452564	0.22226	0.16467972	0.38136	0.09452564	0.22226	0.16467972	0.38135	-9.401	0.70241	D	.	.	0.612	0.75033	P	.;.	.;.	4.829482	0.78746	27.0	0.99871413057128655	0.94902	0.87135	0.46584	D	AEFBI	0.149345	0.27343	N	0.583172523806537	0.72125	5.756716	0.570477233604031	0.72833	5.87253	0.999955313182542	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	6.07	5.16	0.70563	3.599000	0.53795	7.601000	0.61564	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.916:0.0:0.084	11.091	0.47335	657	0.62240	.;.	.	.	.	.	rs148055073	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	34	chr11	74852004	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.638;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.454;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr11	74921217	74921217	T	C	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378158:exon7:c.A653G:p.E218G,XRRA1:NM_001270380:exon8:c.A629G:p.E210G,XRRA1:NM_001378157:exon8:c.A653G:p.E218G,XRRA1:NM_001378159:exon8:c.A653G:p.E218G,XRRA1:NM_001378160:exon8:c.A653G:p.E218G,XRRA1:NM_182969:exon8:c.A629G:p.E210G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0473167553356	.	.	1.661e-05	0	8.651e-05	0	0	0	0	6.089e-05	1.29e-05	2	154602	rs747088502	5.474e-06	5.472e-06	4.085e-06	6.877e-06	8.117e-05	2.36e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.014	0.92824	D	0.985	0.77913	D	0.541	0.73562	P	0.043259	0.23758	N	0.394081	1	0.81001	D	2.35	0.67516	M	1.83	0.53516	T	-0.88	0.26843	N	0.685	0.69913	-0.7545	0.57699	T	0.192	0.54418	T	10	0.22503391	0.39323	T	0.047317	0.62865	D	0.144	0.38394	0.371	0.38176	0.634282618606	0.63128	0.38822990510683114	0.38737	0.326245588673	0.34772	0.502554297447	0.39183	T	0.002677	0.02065	T	-0.159853	0.26781	T	-0.285867	0.46201	T	0.826871812343597	0.48289	D	0.737926	0.35508	T	0.085570246	0.19855	0.10823035	0.26067	0.085570246	0.19854	0.10823035	0.26067	-8.445	0.66817	D	.	.	0.172	0.37671	B	.;.;.	.;.;.	2.846330	0.37562	20.5	0.99561129181582175	0.71769	0.91919	0.54548	D	AEFBI	0.162961	0.28919	N	0.28145771209339	0.55208	3.685106	0.259671758994943	0.53201	3.490287	0.0314572975246136	0.14002	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.636168	0.56350	0	.	.	4.9	3.68	0.41359	2.083000	0.41239	4.980000	0.46456	0.609000	0.47794	0.986000	0.36153	1.000000	0.68203	0.352000	0.25704	0.1929:0.0:0.0:0.8071	7.436	0.26326	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2335.33	34	chr11	74921217	.	T	C	2335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=802;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.831;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	0	1	0
chr11	75005458	75005458	C	T	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_001367864:exon2:c.C140T:p.S47L,NEU3:NM_001367863:exon3:c.C140T:p.S47L,NEU3:NM_006656:exon3:c.C352T:p.R118W,NEU3:NM_001367860:exon4:c.C352T:p.R118W,NEU3:NM_001367865:exon4:c.C352T:p.R118W	.	.	.	.	.	.	.	.	.	.	.	3350266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0652094341948	0.0004	.	0.0002	0	0	0	0	0.0003	0.0012	0	0.0001358	21	154602	rs199990681	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	4.475e-05	0.0020	0	0	0.0010	0.0001	0.0002	8.119e-05	9.857e-05	9.851e-05	7.709e-05	0.0001	0.0001	6.007e-05	4.88e-05	4.764e-05	3.339e-05	2.413e-05	0	0	0.0020	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.052975	1	0.81001	D	.	.	.	-2.34	0.87989	D	-7.89	0.96166	D	0.77	0.88137	0.137	0.84834	D	0.518	0.81961	D	10	0.76670057	0.76760	D	0.065209	0.69511	D	0.856	0.95581	.	.	0.862058417021	0.86072	0.9480969160236534	0.94792	0.308637158166	0.33177	0.649385631084	0.59899	T	.	.	.	0.25409	0.78982	D	0.391634	0.91836	D	0.988756120204926	0.79047	D	0.983602	0.94423	D	.	.	.	.	.	.	.	.	-9.439	0.70479	D	.	.	0.686	0.72380	P	.;.	.;.	5.310730	0.89155	29.9	0.9992130675053067	0.98787	0.98824	0.87336	D	AEFGBCI	0.901747	0.84881	D	0.675068839880008	0.77999	6.783989	0.700922996869671	0.82450	7.769608	0.999999999938857	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	6.172000	0.71841	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	16.589	0.84612	805	0.43675	Sialidase;Sialidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1519.33	33	chr11	75005458	.	C	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=783;ExcessHet=0;FS=2.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.332;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr11	75006172	75006172	A	C	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_006656:exon3:c.A1066C:p.T356P,NEU3:NM_001367860:exon4:c.A1066C:p.T356P	.	424	1058	38	2	0	42	0.0194625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0013	0.00658946	0.0039	0.0004	0.0029	0	0.0002	0.0024	0.0078	0.0161	0.0036545	565	154602	rs143740329	0.0026	0.0026	0.0021	0.0031	0.0162	0.0026	0.0025	0.0155	0.0152	0.0004	0.0024	0.0044	2.519e-05	9.363e-05	0.0113	0.0017	0.0036	0.0162	0.0021	0.0021	0.0020	0.0023	0.0158	0.0019	0.0018	0.0129	0.0119	0.0006	0	0.0036	0.0052	0	0	0.0068	0.0020	0.0043	0.0158	0.389	0.10874	T	0.137	0.33894	T	.	.	.	.	.	.	0.126063	0.02768	N	1.748710	1	0.08975	N	.	.	.	-1.76	0.83578	D	-0.81	0.22294	N	0.059	0.04790	-0.8823	0.49577	T	0.294	0.66574	T	10	0.004731238	0.00100	T	.	.	.	0.194	0.47447	.	.	0.246215685461	0.24236	0.3099720632532257	0.30910	0.0512016197912	0.05634	0.269134581089	0.06028	T	.	.	.	-0.410974	0.01958	T	-0.350138	0.39189	T	0.00551444159673872	0.00060	T	0.167583	0.01563	T	.	.	.	.	.	.	.	.	-2.863	0.08778	T	.	.	0.065	0.02012	B	.;.	.;.	-0.372598	0.02317	0.246	0.78807510916451384	0.12461	0.11115	0.16418	N	AEFBCI	0.051137	0.09005	N	-0.977373718211172	0.09088	0.4287138	-0.994329827854061	0.09912	0.4959492	0.00239079858417211	0.09378	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.09	-0.0767	0.13055	0.053000	0.14067	-0.446000	0.09129	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5712:0.1622:0.2666:0.0	4.429	0.10945	807	0.43470	Sialidase;Sialidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.000000	0.016304	0.014620	0.050000	0.008621	0.012195	0.007576	0.02632	4014.33	289	chr11	75006172	.	A	C	4014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.049;DP=946;ExcessHet=0;FS=5.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.129;SOR=0.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr11	75436986	75436986	C	T	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon12:c.G1205A:p.R402H,GDPD5:NM_030792:exon16:c.G1619A:p.R540H,GDPD5:NM_001351168:exon17:c.G884A:p.R295H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0152335097159	0.0008	0.000199681	0.0008	0.0006	8.693e-05	0	0.0005	0.0014	0	0.0001	0.0007697	119	154602	rs147755302	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0010	0.0003	0.0002	0	2.519e-05	0.0007	0.0003	0.0010	0.0004	0.0002	0.0004	0.0005	0.0006	0.0003	0.0007	0.0004	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0004	0	0.0007	0.0005	0	0.049	0.40068	D	0.147	0.38450	T	0.198	0.29589	B	0.056	0.26147	B	0.009937	0.30138	N	0.328616	0.999447	0.81001	D	2.175	0.60977	M	2.2	0.36146	T	-1.4	0.41239	N	0.358	0.40364	-1.0915	0.05286	T	0.074	0.29865	T	10	0.021390349	0.00511	T	0.015234	0.35841	T	0.026	0.05648	.	.	0.499727662827	0.49609	0.6291766549127216	0.62851	0.372525074531	0.38744	0.253999382257	0.04201	T	0.06767	0.33260	T	-0.443968	0.01226	T	-0.460947	0.26495	T	0.0287947530446029	0.01806	T	0.907509	0.71813	D	0.042685922	0.06520	0.04782645	0.06973	0.042685922	0.06520	0.04782645	0.06972	-7.509	0.57674	D	.	.	0.072	0.05060	B	.;.;.;.;.;.	.;.;.;.;.;.	1.778938	0.22621	15.69	0.99268163354394778	0.57457	0.75653	0.37052	D	AEFGBI	0.175683	0.30286	N	-0.366510669421788	0.26670	1.457322	-0.292846583524254	0.28333	1.579026	0.234650149592911	0.18504	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	0.187	0.14390	0.845000	0.27321	-0.931000	0.06883	0.599000	0.40250	0.993000	0.37899	0.002000	0.18203	0.973000	0.55318	0.0:0.5849:0.0:0.4151	8.743	0.33732	754	0.51307	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1895.33	35	chr11	75436986	.	C	T	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=799;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.386;SOR=0.888	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	75449537	75449537	A	G	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon4:c.T134C:p.F45S,GDPD5:NM_030792:exon8:c.T548C:p.F183S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0192104057348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163137195	2.099e-06	4.104e-06	1.386e-06	2.826e-06	7.811e-05	5.6e-07	1.6e-07	2.071e-05	1.074e-05	0	0	0	7.811e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.51853	D	0.05	0.51421	T	0.539	0.54515	P	0.284	0.55529	B	0.000004	0.62929	D	0.107027	0.99995	0.81001	D	2.19	0.61577	M	2.36	0.16351	T	-3.87	0.79998	D	0.749	0.78262	-1.0799	0.07368	T	0.084	0.32900	T	10	0.4852656	0.60670	T	0.01921	0.41510	T	0.186	0.46104	0.532	0.64002	0.312608672186	0.30878	0.8051853480710209	0.80473	0.573995921077	0.53440	0.582898437977	0.50493	T	0.290007	0.66279	T	0.0465616	0.57900	T	-0.170894	0.57362	T	0.931780338287354	0.59736	D	0.946705	0.85096	D	0.55149484	0.70039	0.59360075	0.76412	0.55149484	0.70040	0.59360075	0.76413	-9.587	0.71400	D	.	.	0.619	0.73165	P	.;.;.;.	.;.;.;.	4.079422	0.60676	24.2	0.99691721326413751	0.79977	0.88698	0.48750	D	AEFGBHI	0.566358	0.57238	D	0.335250422895539	0.57966	3.966299	0.376873699840283	0.60142	4.198643	0.999996104586152	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	8.126000	0.89466	8.025000	0.76247	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	12.901	0.57515	714	0.56256	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	37	chr11	75449537	.	A	G	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=768;ExcessHet=0;FS=4.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.8;ReadPosRankSum=-1.233;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr11	75851976	75851976	T	C	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon2:c.T211C:p.C71R	.	.	.	.	.	.	.	.	.	.	.	2332431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.0249458354824	0.0005	0.000798722	0.0002	0.0012	0.0005	0	0	7.496e-05	0	0	0.0002005	31	154602	rs141406262	0.0001	0.0001	9.682e-05	0.0001	0.0015	8.93e-05	8.413e-05	0.0011	0.0010	0.0015	0.0005	0	0	0	0.0002	5.584e-05	0.0002	1.165e-05	0.0005	0.0005	0.0003	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0.0068	0.0001	0	0	0.021	0.49117	D	0.016	0.60972	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.05	0.39990	T	-2.36	0.52128	N	0.926	0.93018	-0.6928	0.60778	T	0.225	0.58894	T	10	0.22265464	0.39023	T	0.024946	0.47933	T	0.273	0.58883	.	.	0.134007934775	0.12933	0.8719439630167302	0.87160	1.10976883986	0.78015	0.742980003357	0.73412	T	0.237872	0.60565	T	-0.0681115	0.41629	T	0.123219	0.78448	D	0.0296963262299213	0.01942	T	0.814119	0.46793	T	0.54357153	0.69596	0.50687534	0.71500	0.54357153	0.69597	0.50687534	0.71500	-3.941	0.22918	T	.	.	0.545	0.66588	A	.	.	5.048747	0.84074	28.2	0.99744890303452594	0.83778	0.93402	0.58121	D	AEFBI	0.783255	0.71429	D	0.732373999320106	0.81754	7.596928	0.743040099590349	0.85637	8.640151	0.999997377660451	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	6.06	6.06	0.98340	6.365000	0.73028	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.568	0.67780	684	0.59539	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	980.33	33	chr11	75851976	.	T	C	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.801;DP=726;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.046;SOR=0.58	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1154	18	0	1	0
chr11	76351556	76351556	G	T	exonic	THAP12	.	nonsynonymous SNV	THAP12:NM_004705:exon5:c.C1594A:p.H532N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00297750594928	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs9666739	4.214e-06	3.762e-05	5.555e-06	2.842e-06	0.0001	1.52e-06	1e-06	3.33e-05	1.969e-05	6.249e-05	0.0001	0	0	0	0	0	0	0	8.748e-05	0.0010	9.193e-05	8.28e-05	0.0002	5.172e-05	4.051e-05	0.0001	7.395e-05	0.0002	0	0.0001	0	0	9.586e-05	0	1.482e-05	0.0005	0	0.0	0.91255	D	0.076	0.42614	T	0.053	0.22573	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	.	.	.	-5.54	0.86149	D	0.664	0.67304	-0.6726	0.61711	T	0.286	0.65802	T	9	0.46782506	0.59679	T	0.002978	0.06369	T	0.211	0.50185	0.507	0.60232	0.245697971988	0.24196	0.7587346159986976	0.75821	1.69212223381	0.90150	0.775414288044	0.78237	T	0.588626	0.86639	D	0.141417	0.68459	D	-0.0346412	0.68061	D	0.993412911891937	0.84204	D	0.588541	0.21576	T	0.8751485	0.89272	0.7477391	0.85089	0.8751485	0.89273	0.7477391	0.85090	-8.001	0.61077	D	.	.	0.711	0.73392	P	.	.	3.469126	0.48388	22.6	0.98023625045095075	0.37650	0.98860	0.87816	D	AEFI	0.865884	0.78513	D	0.228958627928079	0.52606	3.433823	0.38357355737962	0.60550	4.244004	0.999999730120892	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.174000	0.93961	5.912000	0.51036	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.124	0.93361	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	34.71	66	chr11	76351556	.	G	T	34.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.547;DP=734;ExcessHet=0;FS=12.031;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=53.74;MQRankSum=-4.768;QD=0.53;ReadPosRankSum=-2.93;SOR=2.833	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1191	17	0	1	1
chr11	76496253	76496253	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon9:c.C1150G:p.L384V,EMSY:NM_020193:exon9:c.C1147G:p.L383V,EMSY:NM_001300942:exon10:c.C1192G:p.L398V,EMSY:NM_001300944:exon10:c.C1192G:p.L398V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.00453261117237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	1.0	0.01155	T	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	.	.	.	-0.65	0.18877	N	0.564	0.71765	-0.7531	0.57773	T	0.280	0.65159	T	9	0.24627647	0.41889	T	0.004533	0.11157	T	0.251	0.56024	0.179	0.08626	0.161926535498	0.15789	0.24888415373398984	0.24802	1.06807590383	0.76700	.	.	.	0.047385	0.27706	T	0.160681	0.70264	D	-0.00696975	0.69883	D	0.726653091053459	0.42037	D	0.973803	0.91380	D	0.17019881	0.37581	0.21170264	0.45610	0.17019881	0.37581	0.21170264	0.45609	-8.834	0.66622	D	.	.	0.174	0.48807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.457012	0.69330	25.4	0.99597549711436872	0.73983	0.98681	0.85513	D	AEFGBI	0.752831	0.69321	D	0.6031989030994	0.73378	5.956139	0.660773827867368	0.79417	7.077691	0.999999997739998	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.156000	0.77041	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.109	0.97902	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	170.3	139	chr11	76496253	.	C	G	170.3	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=2046;ExcessHet=0.3672;FS=176.329;InbreedingCoeff=-0.1218;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.479;SOR=11.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	14	0	3	2
chr11	76535964	76535964	A	T	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon15:c.A2267T:p.E756V,EMSY:NM_020193:exon15:c.A2264T:p.E755V,EMSY:NM_001300942:exon16:c.A2309T:p.E770V,EMSY:NM_001300944:exon16:c.A2309T:p.E770V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0164468981186	0.0003	.	0.0002	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs144798466	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	6.031e-05	0	0	0	1.885e-05	0.0002	0.0003	0.0003	4.716e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.727e-05	0.0002	0.0002	4.84e-05	0	0	0	0	0	0	0.0003	0.0010	0	0.002	0.72154	D	0.064	0.46862	T	0.18	0.33905	B	0.025	0.22909	B	0.000016	0.62929	D	0.149811	1.000	0.81001	D	0.805	0.20218	L	0.63	0.53088	T	-1.57	0.44657	N	0.38	0.56058	-1.0308	0.20195	T	0.085	0.33269	T	10	0.09516856	0.16977	T	0.016447	0.37712	T	0.160	0.41473	.	.	0.043077524339	0.03247	0.2992723688352346	0.29840	0.759636425302	0.64181	.	.	.	0.02583	0.33778	T	-0.223999	0.17451	T	-0.259211	0.48903	T	0.230640550804925	0.21982	T	0.961004	0.90967	D	0.25466463	0.48497	0.27957344	0.53927	0.25466463	0.48497	0.27957344	0.53926	-7.885	0.62229	D	.	.	0.662	0.75705	P	.;.;.;.;.;.	.;.;.;.;.;.	4.934125	0.81377	27.5	0.98967359699760404	0.49461	0.95399	0.64567	D	AEFDBI	0.642033	0.61915	D	0.0729489068713515	0.45204	2.780862	0.267907934938121	0.53674	3.535298	0.974368205297963	0.29536	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.57	5.57	0.84021	6.627000	0.74121	11.263000	0.91145	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.748	0.77725	845	0.36510	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1997.33	34	chr11	76535964	.	A	T	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.266;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	210.79	33	chr11	76795628	.	CCTG	C	210.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.106;DP=874;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.494;SOR=0.737	GT:AD:DP:GQ:PL	0/1:102,11:113:99:146,0,4243	17	0	2	0
chr11	77172767	77172767	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon16:c.G1817A:p.R606H,MYO7A:NM_001127180:exon16:c.G1817A:p.R606H,MYO7A:NM_001369365:exon17:c.G1784A:p.R595H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	508743	not_provided|Usher_syndrome_type_1B|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1|Nonsyndromic_genetic_hearing_loss|not_specified	MedGen:C3661900|MONDO:MONDO:0700087,MedGen:C2931206|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.832	0.396682205298	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	4.53e-05	7	154602	rs782311929	5.12e-05	5.883e-05	4.776e-05	5.472e-05	0.0004	4.15e-05	3.814e-05	0.0003	0.0002	3.14e-05	0	0	2.767e-05	0	0	3.69e-05	1.716e-05	0.0004	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.003	0.68238	D	0.008	0.72224	D	0.998	0.73220	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.155	0.60227	M	-2.29	0.87591	D	-4.03	0.74348	D	0.812	0.81360	0.755	0.93859	D	0.790	0.92885	D	10	0.85794395	0.84999	D	0.396682	0.93308	D	0.832	0.94691	.	.	0.941670389387	0.94105	0.47679168939002115	0.47599	0.515447153205	0.49457	0.831562280655	0.86801	D	0.823947	0.95725	D	0.0505843	0.58419	T	0.143752	0.79787	D	0.866811037063599	0.51685	D	0.974103	0.90741	D	0.570296	0.71077	0.51357126	0.71893	0.570296	0.71078	0.51357126	0.71893	-11.805	0.84557	D	0.3375507325813594	0.43543	0.787	0.76682	P	.;.;.;.	.;.;.;.	5.018151	0.83384	28.0	0.99950952319509201	0.99944	0.96950	0.71831	D	AEFDBIJ	0.932388	0.92266	D	0.790501381230454	0.85508	8.596777	0.740435023077106	0.85442	8.581499	0.999999999999775	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.526803	0.08958	0	.	.	4.77	4.77	0.60425	7.657000	0.82733	8.606000	0.77748	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.157	0.89625	585	0.69300	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001045	0.000000	0.002786	0.003145	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	35	chr11	77172767	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=716;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.17;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	0	1	0
chr11	77179856	77179856	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon21:c.G2489A:p.R830H,MYO7A:NM_001127180:exon21:c.G2489A:p.R830H,MYO7A:NM_001369365:exon22:c.G2456A:p.R819H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	2	1518	1	0	1	2	0.000329272	.	.	YES	188830	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.763	0.811260307901	0.0002	.	0.0002	0	0	0	0	0.0005	0	0	1.94e-05	3	154602	rs371029653	8.924e-05	9.098e-05	7.104e-05	0.0001	0.0018	7.584e-05	7.15e-05	0.0009	0.0007	9.503e-05	2.801e-05	0.0002	8.396e-05	0	0.0018	8.065e-05	0.0002	5.052e-05	5.912e-05	5.91e-05	3.853e-05	8.067e-05	0.0001	3.076e-05	2.209e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-1.07	0.90792	T	-4.84	0.81030	D	0.898	0.89800	1.011	0.97377	D	0.895	0.96502	D	10	0.8853041	0.87856	D	0.81126	0.98529	D	0.763	0.91962	.	.	0.980170538045	0.97995	0.7408404098777647	0.74029	0.517011498628	0.49580	0.726010084152	0.70924	T	0.461628	0.87342	T	0.175192	0.71601	D	0.283175	0.87297	D	0.954997599124908	0.64399	D	0.978902	0.92647	D	0.9237777	0.93617	0.83808684	0.90712	0.9237777	0.93618	0.83808684	0.90712	-10.765	0.79079	D	0.7406512574139558	0.82270	0.369	0.57769	A	.;.;.;.;.;.	.;.;.;.;.;.	5.771418	0.93478	33	0.99951715984014855	0.99951	0.99399	0.95529	D	AEFDBI	0.965401	0.98770	D	0.954188609860745	0.94150	12.53903	0.879717012673459	0.94626	12.910	0.999999999999116	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	9.993000	0.99245	11.777000	0.96009	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.155	0.93491	609	0.67094	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005143	0.000000	0.007987	0.003205	0.050000	0.010417	0.000000	0.004237	0.02632	1473.33	33	chr11	77179856	.	G	A	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=746;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.827;SOR=1.06	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1351	18	0	1	0
chr11	77199663	77199663	C	T	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon35:c.C4697T:p.T1566M,MYO7A:NM_001127180:exon35:c.C4583T:p.T1528M,MYO7A:NM_001369365:exon36:c.C4550T:p.T1517M	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	52424	Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_specified	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	.	0.0050	0.00279553	0.0050	0.0005	0.0020	0.0001	0.0060	0.0076	0.0027	0.0012	0.004366	675	154602	rs41298747	0.0054	0.0054	0.0054	0.0054	0.0092	0.0053	0.0053	0.0072	0.0065	0.0007	0.0027	0.0125	0.0003	0.0060	0.0092	0.0060	0.0052	0.0013	0.0050	0.0050	0.0052	0.0048	0.0077	0.0047	0.0046	0.0072	0.0070	0.0009	0.0066	0.0030	0.0127	0.0004	0.0073	0.0102	0.0077	0.0076	0.0012	0.154	0.24277	T	0.122	0.35840	T	0.664	0.41009	P	0.223	0.37929	B	0.017530	0.27701	N	0.423150	0.999988	0.18198	N	0.69	0.16971	N	-0.31	0.68030	T	-0.41	0.14000	N	0.104	0.08786	-0.9604	0.39106	T	0.115	0.40853	T	10	0.006384641	0.00145	T	.	.	.	0.073	0.21317	.	.	0.75200497543	0.74976	0.12923958854021883	0.12848	0.0885891732635	0.10020	0.385310351849	0.23006	T	0.220086	0.58327	T	-0.530895	0.00379	T	-0.527837	0.19504	T	0.00512302667756455	0.00055	T	0.852615	0.55989	D	0.017381454	0.00268	0.03445328	0.02516	0.015166526	0.00125	0.038304687	0.03668	-5.351	0.40445	T	0.08136078004103159	0.04195	0.090	0.12560	B	.;.;.;.	.;.;.;.	1.337338	0.17432	13.16	0.94310586658179629	0.24628	0.18043	0.20095	N	AEFDGI	0.117925	0.23080	N	-0.640566103457634	0.17735	0.9151354	-0.736179593146757	0.16063	0.8479552	0.736891995289645	0.23146	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.97	-1.95	0.07135	0.446000	0.21410	-1.362000	0.05620	0.599000	0.40250	0.015000	0.19116	0.000000	0.08366	0.870000	0.41412	0.2613:0.2701:0.0:0.4686	4.751	0.12435	670	0.60992	FERM domain;.;.;FERM domain	.	.	.	.	rs41298747	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.040404	0.008152	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1266.33	33	chr11	77199663	.	C	T	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.979;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1295	18	0	1	0
chr11	77204105	77204105	T	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon39:c.T5356A:p.S1786T,MYO7A:NM_001127180:exon39:c.T5242A:p.S1748T,MYO7A:NM_001369365:exon40:c.T5209A:p.S1737T	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	175518	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.281669031188	8e-05	0.000199681	0.0002	0.0002	0	0	0	0.0003	0	0	0.0001035	16	154602	rs374576916	7.659e-05	7.661e-05	5.756e-05	9.588e-05	0.0021	6.479e-05	6.056e-05	0.0012	0.0009	0.0005	0.0001	0	0	0	0.0021	6.056e-05	0.0001	2.396e-05	0.0001	0.0001	0.0001	9.403e-05	0.0001	7.089e-05	5.746e-05	6.807e-05	5.09e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.181	0.21968	T	0.143	0.33330	T	0.002	0.09854	B	0.008	0.13708	B	0.000023	0.55875	D	0.160766	0.999999	0.58761	D	2.015	0.55033	M	-2.31	0.87989	D	-2.42	0.53096	N	0.678	0.71854	-0.1658	0.78530	T	0.549	0.83455	D	10	0.27296865	0.44844	T	0.281669	0.90253	D	0.373	0.69188	.	.	0.90710961093	0.90618	0.5090445675568805	0.50826	0.104901053981	0.11863	0.702617645264	0.67522	T	0.43352	0.78092	T	-0.0957659	0.37124	T	-0.138669	0.60232	T	0.0662984603471042	0.08122	T	0.911109	0.69109	D	0.487829	0.66373	0.23346925	0.48537	0.49626398	0.66876	0.2590678	0.51648	-3.959	0.27712	T	0.1588398418633976	0.19274	0.208	0.45942	B	.;.;.;.	.;.;.;.	3.275482	0.44858	22.0	0.96509559955282387	0.30072	0.96055	0.67329	D	AEFDBI	0.839089	0.75653	D	-0.00985272061486092	0.41408	2.47627	0.0921631078912919	0.44154	2.702657	0.614528018772539	0.21832	0.553676	0.25195	0	0.610034	0.51514	0	0.603688	0.36954	0	0.620846	0.47308	0	.	.	4.69	3.56	0.39892	7.573000	0.81745	6.168000	0.54445	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.081:0.0:0.919	10.033	0.41282	675	0.60470	MyTH4 domain|MyTH4 domain;.;.;MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.009511	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1648.33	42	chr11	77204105	.	T	A	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=772;ExcessHet=0;FS=3.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.821;SOR=0.992	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr11	77208439	77208439	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon43:c.G5866A:p.V1956I,MYO7A:NM_001127180:exon43:c.G5752A:p.V1918I,MYO7A:NM_001369365:exon44:c.G5719A:p.V1907I	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	52475	Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2|Usher_syndrome_type_1|Usher_syndrome_type_1B|not_specified|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.240	0.0446454110709	0.0024	0.00159744	0.0045	0.0010	0.0019	0	0.0041	0.0065	0.0012	0.0028	0.0042173	652	154602	rs142293185	0.0042	0.0042	0.0043	0.0042	0.0045	0.0041	0.0041	0.0044	0.0044	0.0013	0.0018	0.0150	0.0001	0.0034	0.0003	0.0045	0.0040	0.0020	0.0037	0.0037	0.0039	0.0035	0.0050	0.0034	0.0033	0.0046	0.0044	0.0013	0	0.0040	0.0167	0	0.0028	0	0.0050	0.0043	0.0025	0.239	0.21066	T	0.419	0.14158	T	0.935	0.52277	P	0.459	0.46380	P	0.023853	0.26367	N	0.370118	0.999996	0.58761	D	2	0.54354	M	-0.87	0.74583	T	-0.82	0.22508	N	0.366	0.81162	-0.6614	0.62215	T	0.240	0.60833	T	10	0.009595692	0.00216	T	0.044645	0.61592	D	0.240	0.54500	.	.	0.64749411766	0.64457	0.21953071178924213	0.21869	0.398382739974	0.40898	0.642459630966	0.58913	T	0.249037	0.61893	T	-0.349474	0.04760	T	-0.269644	0.47855	T	0.00817409145721839	0.00098	T	0.938006	0.76748	D	0.123182006	0.28929	0.09762946	0.23245	0.14032014	0.32378	0.08495531	0.19580	-12.388	0.86690	D	0.15508858871757167	0.18566	0.144	0.37764	B	.;.;.;.	.;.;.;.	3.574108	0.50354	22.9	0.98603943124682181	0.43546	0.95486	0.64913	D	AEFDBI	0.737828	0.68290	D	0.0880045460591601	0.45905	2.839245	0.067144311975351	0.42909	2.603728	0.999999977467093	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.29	3.36	0.37579	3.887000	0.55910	6.712000	0.56404	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0826:0.0:0.9174:0.0	12.556	0.55602	679	0.60090	FERM domain|Band 4.1 domain;.;.;FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1848.33	139	chr11	77208439	.	G	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=1548;ExcessHet=0;FS=2.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.065;SOR=0.911	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr11	77217308	77217308	-	GAGTA	exonic	GDPD4	.	frameshift insertion	GDPD4:NM_182833:exon17:c.1531_1532insTACTC:p.Q511Lfs*14	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs758101540	8.196e-05	8.484e-05	6.86e-05	9.543e-05	0.0009	6.982e-05	6.531e-05	0.0004	0.0004	0	6.71e-05	7.666e-05	2.522e-05	0	0.0009	4.715e-05	0.0002	0.0005	7.884e-05	7.88e-05	5.138e-05	0.0001	0.0002	4.496e-05	3.512e-05	5.841e-05	4.239e-05	2.413e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1065.29	44	chr11	77217308	.	T	TGAGTA	1065.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=782;ExcessHet=0;FS=4.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.474;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.016304	0.046784	0.000000	0.025862	0.003049	0.022727	0.02632	1395.33	49	chr11	77702384	.	T	C	1395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=845;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.048;SOR=0.574	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr11	78200178	78200178	T	C	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon5:c.T982C:p.S328P	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0037	0.00559105	0.0014	0.0157	0.0008	0	0	0	0	6.056e-05	0.001313	203	154602	rs115848453	0.0005	0.0005	0.0005	0.0004	0.0176	0.0004	0.0004	0.0164	0.0159	0.0176	0.0007	0	0	0	0.0014	3.597e-06	0.0008	4.637e-05	0.0044	0.0044	0.0048	0.0041	0.0156	0.0042	0.0041	0.0146	0.0142	0.0156	0	0.0013	0	0	0	0	5.881e-05	0.0028	0	0.51	0.47745	T	0.295	0.76473	T	0.963	0.55692	D	0.577	0.50090	P	0.016373	0.27995	N	0.253449	1	0.81001	D	1.61	0.41143	L	-0.34	0.68474	T	-0.08	0.14193	N	0.884	0.88246	-0.8764	0.50044	T	0.110	0.39723	T	10	0.007999897	0.00182	T	.	.	.	0.164	0.42212	.	.	0.682937691258	0.68023	0.6874874425379488	0.68688	0.103616128581	0.11724	0.713123500347	0.69046	T	0.006668	0.06097	T	-0.306589	0.08052	T	-0.200847	0.54566	T	0.0525235622650483	0.05937	T	0.912709	0.68911	D	0.26333392	0.49397	0.39942986	0.64507	0.26333392	0.49397	0.39942986	0.64507	-4.312	0.28344	T	.	.	0.302	0.66129	B	.;.;.	.;.;.	3.781226	0.54365	23.5	0.80581313775034991	0.13271	0.93172	0.57513	D	AEFDGBI	0.322053	0.42466	N	0.217164314146093	0.52031	3.379957	0.295603816860881	0.55281	3.691416	0.99970954172933	0.41986	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	2.079000	0.41201	3.976000	0.40865	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.827	0.69746	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1602.33	34	chr11	78200178	.	T	C	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=786;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.311;SOR=0.78	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	78210466	78210466	G	A	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon10:c.G2611A:p.A871T	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	8.2e-05	0.00339457	0.0023	0.0001	0	0	0	5.995e-05	0.0033	0.0165	0.0019922	308	154602	rs200701812	0.0011	0.0011	0.0006	0.0015	0.0166	0.0010	0.0010	0.0159	0.0156	0	8.944e-05	0.0002	0	0	0.0002	3.417e-05	0.0012	0.0166	0.0006	0.0006	0.0003	0.0009	0.0180	0.0005	0.0005	0.0150	0.0138	2.404e-05	0	6.533e-05	0.0003	0	0	0	2.94e-05	0.0005	0.0180	0.581	0.06049	T	0.741	0.04965	T	0.03	0.20002	B	0.013	0.16460	B	0.078177	0.21060	N	0.439888	1	0.08975	N	0.76	0.19266	N	3.23	0.06931	T	0.26	0.04613	N	0.095	0.07535	-0.9862	0.33542	T	0.016	0.06664	T	10	0.0030746162	0.00051	T	.	.	.	0.028	0.06331	.	.	0.361360026772	0.35753	0.14611472433983244	0.14533	0.227861830745	0.25340	0.417455941439	0.27487	T	0.002939	0.02340	T	-0.608861	0.00129	T	-0.63439	0.10084	T	0.02721279785622	0.01574	T	0.662834	0.27173	T	0.07941628	0.18141	0.05460789	0.09425	0.07941628	0.18141	0.05460789	0.09425	-3.852	0.21584	T	.	.	0.079	0.09143	B	.;.;.	.;.;.	1.136882	0.15237	11.70	0.9511669784248068	0.26210	0.05449	0.11326	N	AEFBCI	0.050726	0.08894	N	-0.611609083788006	0.18595	0.9666385	-0.500799904862571	0.22131	1.200609	0.850958668850056	0.25043	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.8	2.89	0.32713	1.049000	0.30001	0.243000	0.16332	0.618000	0.50648	0.008000	0.17931	0.000000	0.08366	0.665000	0.33109	0.2626:0.0:0.7374:0.0	8.320	0.31283	618	0.66225	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1901.33	47	chr11	78210466	.	G	A	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.31;DP=884;ExcessHet=0;FS=11.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.53;SOR=1.428	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr11	78221738	78221738	A	G	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon8:c.T1586C:p.I529T,GAB2:NM_080491:exon8:c.T1700C:p.I567T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0105917260381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.07870	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.000349	0.45440	U	0.145038	0.999297	0.46578	D	0.46	0.12951	N	1.73	0.26445	T	-0.53	0.16393	N	0.12	0.11054	-1.0793	0.07485	T	0.053	0.22578	T	10	0.10872084	0.20251	T	0.010592	0.27302	T	0.105	0.29889	0.133	0.03747	0.221890330934	0.21812	0.17867753340832304	0.17786	0.0634513957156	0.07066	0.448656618595	0.31760	T	0.314275	0.68596	T	-0.19863	0.21004	T	-0.523095	0.19982	T	0.506486415863037	0.32867	D	0.814119	0.46793	T	0.042224888	0.06364	0.04538544	0.06095	0.042224888	0.06364	0.04538544	0.06094	-7.006	0.54077	T	.	.	0.173	0.37876	B	.;.	.;.	2.680141	0.34960	19.77	0.33756486846783457	0.02028	0.96881	0.71447	D	AEFBI	0.599156	0.59228	D	-0.212671088589962	0.32614	1.841155	-0.0916723499472472	0.35734	2.070864	0.999954346325688	0.48110	0.732398	0.92422	0	0.688494	0.66719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.74	2.42	0.28720	6.876000	0.75358	7.020000	0.57263	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.8491:0.0:0.1509:0.0	9.073	0.35663	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1085.33	34	chr11	78221738	.	A	G	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.505;DP=724;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.163;SOR=0.811	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	78250373	78250373	C	A	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon3:c.G290T:p.G97V,GAB2:NM_080491:exon3:c.G404T:p.G135V	.	413	1108	1	0	0	1	0.00045106	.	.	.	701996	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	.	0.0003	0.0119808	0.0094	0.0013	0.0914	0.0029	0	0.0002	0.0044	0.0014	0.0090749	1403	154602	rs76853537	0.0030	0.0030	0.0034	0.0026	0.0843	0.0029	0.0029	0.0820	0.0811	0.0009	0.0843	0	0.0059	0	0.0005	6.657e-05	0.0026	0.0010	0.0059	0.0059	0.0049	0.0069	0.0516	0.0056	0.0054	0.0486	0.0474	0.0011	0	0.0516	0	0.0019	0	0.0034	0.0003	0.0100	0.0019	0.534	0.23721	T	0.338	0.18449	T	0.003	0.11197	B	0.006	0.12133	B	0.903612	0.07371	U	1.054650	1	0.08975	N	0.69	0.16971	N	2.59	0.42502	T	-0.01	0.07155	N	0.117	0.11912	-1.0525	0.13709	T	0.009	0.03096	T	10	0.001594156	0.00018	T	.	.	.	0.059	0.16972	.	.	.	.	0.3709873581077365	0.37012	0.0638212480089	0.07108	0.333248972893	0.15425	T	0.28367	0.65643	T	-0.531286	0.00377	T	-0.469125	0.25611	T	0.00416542744042744	0.00044	T	0.484552	0.21519	T	0.056113906	0.10997	0.0598107	0.11287	0.056113906	0.10997	0.0598107	0.11286	-3.424	0.15381	T	.	.	0.073	0.05231	B	.;.;.;.	.;.;.;.	1.326356	0.17311	13.09	0.44350623594494926	0.03403	0.40641	0.26481	N	AEFBI	0.179119	0.30640	N	-1.00896676693882	0.08417	0.3945756	-0.988502767996414	0.10043	0.5033652	0.991397552498631	0.32474	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.46	1.28	0.20656	0.784000	0.26477	0.457000	0.18579	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.643000	0.32503	0.0:0.468:0.463:0.069	11.952	0.52245	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1746.33	34	chr11	78250373	.	C	A	1746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.071;DP=764;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.825;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	18	0	1	0
chr11	78465958	78465958	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon11:c.A401G:p.N134S,NARS2:NM_024678:exon11:c.A1082G:p.N361S	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	414	1097	11	0	0	11	0.00498866	.	.	.	713196	not_specified|NARS2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	0.0246044422804	0.0008	0.000399361	0.0015	0	0.0003	0	0.0005	0.0009	0.0044	0.0068	0.0012872	199	154602	rs150355410	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0068	0.0066	5.976e-05	0.0005	0.0038	0	0.0004	0.0033	0.0004	0.0010	0.0073	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	9.623e-05	0	0.0012	0.0026	0	0.0002	0.0034	0.0007	0.0005	0.0056	0.068	0.36310	T	0.056	0.46862	T	0.001	0.07471	B	0.009	0.14300	B	0.006470	0.32011	N	0.382752	0.924485	0.36776	D	0.87	0.21467	L	-1.84	0.84195	D	-1.14	0.29323	N	0.176	0.19593	-0.4542	0.70261	T	0.409	0.75810	T	10	0.008098215	0.00184	T	0.024604	0.47597	T	0.186	0.46104	.	.	0.647459595057	0.64453	0.4144245884794886	0.41358	0.0400337810157	0.04279	0.285364836454	0.08251	T	0.34181	0.75956	T	-0.469702	0.00854	T	-0.443046	0.28468	T	0.0222564231528155	0.00937	T	0.847515	0.55085	T	0.07305988	0.16298	0.058001664	0.10643	0.04312842	0.06665	0.051105518	0.08157	-5.742	0.44066	T	0.2106537040487836	0.28228	0.100	0.17317	B	.;.;.	.;.;.	1.454477	0.18762	13.91	0.88522829126518043	0.18043	0.77924	0.38373	D	AEFDGBCI	0.247440	0.36802	N	-0.472361943260293	0.22989	1.231411	-0.348210770589493	0.26564	1.468124	0.999991960091654	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.59	2.27	0.27501	2.491000	0.44961	0.922000	0.22712	-0.176000	0.10722	0.763000	0.29277	0.718000	0.26334	0.992000	0.67800	0.0:0.1694:0.0:0.8306	8.268	0.30984	668	0.61153	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.;Aminoacyl-tRNA synthetase, class II (D/K/N)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	839.33	33	chr11	78465958	.	T	C	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=694;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-2.023;SOR=0.976	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1422	18	0	1	0
chr11	78669843	78669843	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.G6502A:p.V2168I	Tremor, hereditary essential, 5, Autosomal dominant	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0192745296098	7.9e-05	0.000599042	0.0003	0	0.0002	0.0002	0.0005	6.036e-05	0	0.0013	0.0002329	36	154602	rs200474747	0.0001	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	0	0.0001	0	2.519e-05	3.746e-05	0	0.0001	4.969e-05	0.0009	8.538e-05	8.531e-05	6.425e-05	0.0001	0.0006	4.955e-05	3.961e-05	0.0002	8.996e-05	4.811e-05	0	6.539e-05	0	0.0002	9.438e-05	0	5.881e-05	0.0005	0.0006	0.82	0.04643	T	0.509	0.11190	T	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.425	0.12573	N	-2.49	0.89145	D	0.08	0.07299	N	0.48	0.51494	0.442	0.89719	D	0.739	0.91065	D	9	0.040608644	0.02644	T	0.019275	0.41600	T	0.245	0.55201	.	.	0.307950594193	0.30395	0.08901993282874977	0.08834	0.235873371727	0.26126	0.777805507183	0.78597	T	0.073211	0.34642	T	-0.198907	0.20963	T	-0.108934	0.62696	T	0.0684785740720763	0.08437	T	0.868313	0.57032	D	0.10226952	0.24165	0.095934056	0.22775	0.10226952	0.24165	0.095934056	0.22774	-2.227	0.04173	T	0.11308134665268375	0.09855	0.074	0.05890	B	.;.	.;.	4.574185	0.72201	25.8	0.99459966573311664	0.65736	0.95136	0.63570	D	AEFBI	0.540899	0.55727	D	0.591866300963387	0.72667	5.841844	0.600260961596119	0.74958	6.226699	0.995668540474371	0.34254	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	5.999000	0.70334	3.389000	0.38055	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.804000	0.37906	0.0:1.0:0.0:0.0	18.808	0.92011	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1767.33	33	chr11	78669843	.	C	T	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.89;DP=807;ExcessHet=0;FS=14.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=1.79;SOR=1.332	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	78708489	78708489	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon27:c.A4081G:p.I1361V	Tremor, hereditary essential, 5, Autosomal dominant	426	1080	15	1	0	17	0.00780891	.	.	.	724760	not_provided|TENM4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.481	.	0.0008	0.00199681	0.0023	0.0002	0.0006	0.0002	0.0002	0.0008	0.0012	0.0132	0.0019857	307	154602	rs200821670	0.0013	0.0013	0.0009	0.0018	0.0130	0.0013	0.0013	0.0124	0.0121	0.0001	0.0004	0.0030	5.038e-05	3.745e-05	0.0045	0.0005	0.0015	0.0130	0.0009	0.0009	0.0007	0.0011	0.0127	0.0008	0.0007	0.0101	0.0092	7.215e-05	0	0.0003	0.0052	0	0	0.0068	0.0007	0.0005	0.0127	0.17	0.22833	T	0.142	0.33330	T	0.913	0.50474	P	0.891	0.63213	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.935	0.23595	L	-2.67	0.90332	D	-0.72	0.20358	N	0.354	0.39558	0.428	0.89514	D	0.725	0.90590	D	9	0.011501104	0.00251	T	.	.	.	0.481	0.77142	.	.	0.323442020237	0.31956	0.3995742354190841	0.39872	0.294285333989	0.31851	0.615581035614	0.55104	T	0.112932	0.42958	T	-0.23194	0.16392	T	-0.0949118	0.63789	T	0.0598651018056591	0.07147	T	0.888511	0.61827	D	0.12055117	0.28363	0.15244803	0.35867	0.12055117	0.28363	0.15244803	0.35866	-5.775	0.44356	T	0.11152381363218447	0.09546	0.075	0.05535	B	.	.	3.801113	0.54768	23.5	0.99896844721841027	0.96971	0.96640	0.70161	D	AEFDGBIJ	0.754221	0.69417	D	0.497766097494585	0.66960	5.018224	0.537977490225704	0.70564	5.523974	0.999999999994788	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.255000	0.72423	6.215000	0.55059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	15.811	0.78336	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1150.33	34	chr11	78708489	.	T	C	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.417;DP=722;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.07;SOR=0.455	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	18	0	1	0
chr11	78738526	78738526	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon20:c.C2801T:p.T934I	Tremor, hereditary essential, 5, Autosomal dominant	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0108211425973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.001	0.83351	D	0.981	0.59675	D	0.69	0.53781	P	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.7	0.43825	L	2.52	0.14160	T	-4.83	0.80943	D	0.671	0.67908	-1.1278	0.01890	T	0.077	0.30798	T	9	0.77375865	0.77291	D	0.010821	0.27789	T	0.349	0.67049	0.493	0.58048	0.161926535498	0.15789	0.7651740756530507	0.76466	0.492389837339	0.47886	0.810723781586	0.83603	D	0.645357	0.89173	D	0.0917611	0.63387	D	-0.105968	0.62930	T	0.992935597896576	0.83554	D	0.989401	0.96508	D	0.5712426	0.71128	0.45812762	0.68514	0.5712426	0.71129	0.45812762	0.68514	-9.756	0.72438	D	0.6258929337651915	0.69475	0.618	0.69608	P	.	.	4.699715	0.75395	26.3	0.99895696524388555	0.96895	0.97441	0.74770	D	AEFDBI	0.849390	0.76621	D	0.719747633720264	0.80928	7.404143	0.721012042466659	0.83975	8.16472	0.999999999811127	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	8.190000	0.89672	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.033	0.92948	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	33	chr11	78738526	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.239;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.59;SOR=0.735	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	78738538	78738538	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon20:c.C2789T:p.T930I	Tremor, hereditary essential, 5, Autosomal dominant	426	1076	20	0	0	20	0.0092081	.	.	.	701999	not_provided|TENM4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.347	.	0.0082	0.00359425	0.0076	0.0016	0.0043	0	0.0077	0.0113	0.0068	0.0019	0.007846	1213	154602	rs76283314	0.0092	0.0092	0.0094	0.0091	0.0106	0.0091	0.0090	0.0105	0.0104	0.0017	0.0057	0.0101	0	0.0065	0.0069	0.0106	0.0082	0.0021	0.0080	0.0080	0.0087	0.0073	0.0118	0.0076	0.0075	0.0111	0.0109	0.0018	0.0439	0.0111	0.0115	0	0.0056	0.0034	0.0118	0.0123	0.0015	0.001	0.78490	D	0.013	0.63109	D	0.651	0.40707	P	0.198	0.36766	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	2.53	0.14038	T	-4.17	0.75456	D	0.851	0.84713	-1.0634	0.10926	T	0.044	0.18742	T	9	0.009315968	0.00210	T	.	.	.	0.347	0.66863	.	.	0.0934897674506	0.08844	0.8247621404957842	0.82434	0.63000353875	0.57007	0.827048480511	0.86110	D	0.627535	0.88412	D	-0.419143	0.01732	T	-0.362522	0.37760	T	0.0364159389715891	0.03053	T	0.958404	0.84340	D	0.61720604	0.73613	0.54209536	0.73534	0.61720604	0.73615	0.54209536	0.73535	-10.66	0.77761	D	0.5472856454656908	0.61625	0.854	0.79954	P	.	.	4.553845	0.71695	25.7	0.99872361368779661	0.94989	0.99024	0.90115	D	AEFDBI	0.896112	0.83684	D	0.583895211312673	0.72169	5.763661	0.639764070853829	0.77849	6.759535	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	10.003000	0.99689	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.033	0.92948	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.010101	0.004076	0.002924	0.000000	0.025862	0.009146	0.003788	0.02632	1842.33	33	chr11	78738538	.	G	A	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=759;ExcessHet=0;FS=4.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.064;SOR=0.419	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	78889833	78889833	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon9:c.G1036A:p.A346T	Tremor, hereditary essential, 5, Autosomal dominant	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.132801239967	0.0002	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs369432996	2.501e-05	2.531e-05	2.679e-05	2.318e-05	0.0005	1.816e-05	1.607e-05	0.0001	7.633e-05	3.165e-05	0	0.0002	8.394e-05	0	0.0005	1.019e-05	0.0002	2.524e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.003	0.76473	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	-2.7	0.90509	D	-2.71	0.57762	D	0.805	0.80083	0.731	0.93555	D	0.824	0.94075	D	9	0.8195238	0.81166	D	0.132801	0.81515	D	0.678	0.88157	.	.	0.668374486945	0.66558	0.5461378954824204	0.54539	0.943796152927	0.72323	0.805409431458	0.82788	D	0.365732	0.73110	T	0.0510777	0.58481	T	0.135917	0.79279	D	0.607855677604675	0.36714	D	0.956971	0.83666	D	0.3648918	0.58205	0.3880544	0.63658	0.3648918	0.58205	0.3880544	0.63658	-8.898	0.67038	D	0.5952571549347345	0.66212	0.313	0.54012	B	.	.	5.203110	0.87293	29.2	0.99938145799997025	0.99698	0.98054	0.79209	D	AEFDBI	0.926286	0.90716	D	0.734995390043002	0.81926	7.637894	0.706333951431343	0.82860	7.872937	0.999999997948782	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.81	4.81	0.61401	7.899000	0.85994	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	18.109	0.89458	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	820.33	35	chr11	78889833	.	C	T	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.625;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	18	0	1	0
chr11	82733626	82733626	C	G	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G104C:p.G35A	.	429	1071	21	1	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.417396448397	0.0024	0.00339457	0.0061	0.0007	0.0028	0	0.0090	0.0075	0.0034	0.0079	0.0039068	604	154602	rs144429777	0.0045	0.0045	0.0044	0.0046	0.0060	0.0044	0.0044	0.0056	0.0054	0.0005	0.0023	0.0024	0	0.0050	0.0038	0.0048	0.0040	0.0060	0.0034	0.0034	0.0033	0.0036	0.0070	0.0032	0.0031	0.0052	0.0045	0.0008	0	0.0028	0.0026	0	0.0055	0	0.0049	0.0028	0.0070	0.029	0.45756	D	0.21	0.26714	T	1.0	0.90584	D	0.945	0.68163	D	0.311877	0.14419	U	0.636557	0.984974	0.24753	N	0.55	0.14455	N	1.26	0.36330	T	-0.49	0.15578	N	0.223	0.25006	-1.0224	0.22932	T	0.144	0.46678	T	9	0.006408274	0.00145	T	0.417396	0.93723	D	0.147	0.38986	.	.	0.299427821978	0.29548	0.18883847741604054	0.18801	1.88529838353	0.92667	0.884383916855	0.94543	D	0.010327	0.09336	T	-0.432659	0.01429	T	-0.39165	0.34357	T	0.0196567047252055	0.00668	T	0.589941	0.21689	T	0.17208172	0.37880	0.23209776	0.48360	0.17208172	0.37879	0.23209776	0.48359	-3.368	0.14629	T	.	.	0.253	0.48746	B	.	.	4.509058	0.70594	25.5	0.98334174511956862	0.40368	0.72233	0.35363	D	AEFDGBHCI	0.193982	0.32108	N	0.244785644537766	0.53380	3.507256	0.166510638402176	0.48022	3.023998	0.999999956704001	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.04	4.04	0.46262	2.217000	0.42521	7.130000	0.57621	0.446000	0.21189	0.998000	0.41325	1.000000	0.68203	0.990000	0.65344	0.0:0.9066:0.0:0.0934	10.111	0.41732	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	1028.33	35	chr11	82733626	.	C	G	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.32;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.833;SOR=0.692	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1074	18	0	1	0
chr11	82853275	82853275	A	T	exonic	PRCP	.	nonsynonymous SNV	PRCP:NM_005040:exon3:c.T313A:p.F105I,PRCP:NM_199418:exon4:c.T376A:p.F126I	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	.	0.00559105	0.0031	0	0.0003	0.0002	0	6.022e-05	0.0022	0.0224	0.0026649	412	154602	rs202003232	0.0012	0.0013	0.0007	0.0018	0.0199	0.0012	0.0012	0.0192	0.0188	9.026e-05	2.265e-05	0	5.049e-05	0	0.0007	1.443e-05	0.0014	0.0199	0.0007	0.0007	0.0004	0.0011	0.0224	0.0006	0.0006	0.0190	0.0177	2.405e-05	0	0	0	0	0	0	0	0	0.0224	0.002	0.72154	D	0.006	0.72224	D	0.983	0.60381	D	0.875	0.62107	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	2.57	0.13552	T	-5.72	0.87531	D	0.862	0.86511	-1.0816	0.07041	T	0.090	0.34463	T	9	0.010399312	0.00232	T	.	.	.	0.391	0.70684	0.702	0.83869	0.492681238296	0.48903	0.8995142763350309	0.89923	0.235828302199	0.26120	0.789819419384	0.80416	T	0.29648	0.66910	T	-0.19723	0.21206	T	-0.0398275	0.67712	D	0.113973629561013	0.13830	T	0.952605	0.89126	D	0.9451516	0.95772	0.90389454	0.95253	0.9451516	0.95772	0.90389454	0.95254	-10.018	0.74020	D	.	.	0.555	0.70560	A	.;.;.;.	.;.;.;.	4.796629	0.77901	26.8	0.99182944044415877	0.54730	0.96414	0.69021	D	AEFBHCI	0.962418	0.98401	D	0.719316317919881	0.80899	7.397685	0.707625754040046	0.82959	7.897625	0.999999991327404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.27	5.27	0.73797	8.947000	0.92735	11.098000	0.86062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.199	0.72808	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1912.81	33	chr11	82853275	.	A	T	1912.81	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.98;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chr11	83285959	83285959	T	C	exonic	CCDC90B	.	nonsynonymous SNV	CCDC90B:NM_021825:exon1:c.A14G:p.Q5R	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00179712	0.0086	0.0017	0.0041	0	0.0261	0.0108	0.0106	0.0062	0.0064747	1001	154602	rs144749516	0.0072	0.0072	0.0073	0.0072	0.0106	0.0071	0.0071	0.0085	0.0077	0.0009	0.0031	0.0260	5.05e-05	0.0171	0.0106	0.0071	0.0078	0.0052	0.0061	0.0061	0.0056	0.0067	0.0073	0.0058	0.0057	0.0068	0.0066	0.0013	0	0.0024	0.0311	0.0002	0.0176	0.0068	0.0073	0.0052	0.0070	0.944	0.02767	T	0.515	0.11115	T	0.0	0.02946	B	0.0	0.01387	B	0.293906	0.03912	N	1.404180	0.86284	0.35419	D	-0.345	0.03330	N	1.6	0.29866	T	0.01	0.07736	N	0.055	0.04188	-1.0374	0.18109	T	0.028	0.12058	T	9	0.0029465258	0.00048	T	.	.	.	0.099	0.28413	.	.	0.149567049428	0.14543	0.21662631799472365	0.21578	0.0230896794622	0.02335	0.306394517422	0.11363	T	0.003364	0.02768	T	-0.527411	0.00398	T	-0.519335	0.20361	T	0.00392486475086559	0.00042	T	0.29547	0.05467	T	0.0334613	0.03570	0.060188286	0.11420	0.0334613	0.03570	0.060188286	0.11419	-3.808	0.20924	T	.	.	0.054	0.01408	B	.;.	.;.	0.263676	0.06420	2.889	0.60334667938948594	0.06438	0.00218	0.01233	N	ALL	0.038003	0.05312	N	-1.06331832002294	0.07328	0.3400958	-0.974073503520917	0.10369	0.5218358	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	4.37	0.51830	1.240000	0.32334	0.117000	0.14863	-1.073000	0.01588	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9064:0.0:0.0936	10.200	0.42252	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.008152	0.017544	0.100000	0.000000	0.009259	0.003788	0.02632	1291.33	41	chr11	83285959	.	T	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.577;DP=839;ExcessHet=0;FS=1.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.92;SOR=0.856	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	85757665	85757665	G	A	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_001162951:exon1:c.C61T:p.R21W,SYTL2:NM_001162953:exon1:c.C61T:p.R21W,SYTL2:NM_001365826:exon2:c.C61T:p.R21W,SYTL2:NM_032943:exon2:c.C61T:p.R21W,SYTL2:NM_206927:exon2:c.C61T:p.R21W,SYTL2:NM_206928:exon2:c.C61T:p.R21W	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.632	.	0.0030	0.00299521	0.0033	0.0007	0.0010	0	0.0006	0.0025	0.0033	0.0127	0.0031047	480	154602	rs149582759	0.0042	0.0042	0.0039	0.0045	0.0131	0.0041	0.0041	0.0125	0.0122	0.0007	0.0009	0.0009	2.519e-05	0.0003	0.0047	0.0041	0.0043	0.0131	0.0024	0.0024	0.0025	0.0023	0.0145	0.0022	0.0021	0.0118	0.0108	0.0011	0	0.0009	0.0003	0	9.436e-05	0.0068	0.0034	0.0038	0.0145	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.983109	0.81001	D	3.165	0.88605	M	-1.65	0.82625	D	-3.6	0.72240	D	0.897	0.92433	0.165	0.85318	D	0.642	0.87485	D	8	0.008777022	0.00199	T	.	.	.	0.632	0.85872	.	.	0.884670039485	0.88353	0.48240169209658024	0.48160	.	.	.	.	.	0.609051	0.87583	D	0.0602941	0.59651	T	0.324863	0.89294	D	0.0445521119747126	0.04520	T	0.993901	0.98139	D	0.42963374	0.62728	0.50274295	0.71255	0.5939278	0.72364	0.5211001	0.72332	-11.479	0.82554	D	.	.	0.634	0.75469	P	.;.;.;.;.;.	.;.;.;.;.;.	4.232756	0.64109	24.7	0.99897379755752935	0.96971	0.82843	0.42017	D	AEFBI	0.496647	0.53151	N	0.341652600437059	0.58299	4.001463	0.294119385690972	0.55195	3.682801	0.999116692593041	0.38479	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.8	2.81	0.31971	1.665000	0.37066	2.107000	0.30637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.3564:0.6436	14.439	0.66879	455	0.79073	.;.;.;Rab-binding domain;Rab-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.005051	0.000000	0.000000	0.000000	0.008621	0.006098	0.018939	0.02632	1105.33	74	chr11	85757665	.	G	A	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=701;ExcessHet=0;FS=4.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.538;SOR=0.465	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1269	18	0	1	0
chr11	85882630	85882630	A	G	exonic	CCDC83	.	nonsynonymous SNV	CCDC83:NM_001286159:exon4:c.A298G:p.K100E,CCDC83:NM_173556:exon4:c.A298G:p.K100E	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0151759730969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000087	0.51296	D	0.135206	0.930427	0.36957	D	2.695	0.78878	M	0.72	0.52187	T	-2.33	0.51646	N	0.404	0.54059	-0.7510	0.57883	T	0.243	0.61095	T	9	0.377288	0.53928	T	0.015176	0.35761	T	0.221	0.51721	0.439	0.49321	0.281381271821	0.27740	0.2499350489159538	0.24907	0.192581990809	0.21586	0.581255793571	0.50262	T	0.060024	0.31273	T	0.0568259	0.59213	T	-0.15615	0.58696	T	0.963364601135254	0.66637	D	0.613939	0.23413	T	0.26631176	0.49701	0.356228	0.61137	0.26631176	0.49700	0.356228	0.61137	-3.827	0.21824	T	.	.	0.267	0.50166	B	.;.	.;.	4.156685	0.62392	24.5	0.99887278936545154	0.96204	0.94398	0.61038	D	AEFBI	0.560480	0.56887	D	0.447052081726512	0.64037	4.649356	0.506217133595415	0.68409	5.215877	0.0590439686342105	0.15148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	3.816000	0.55363	8.027000	0.76256	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	13.804	0.62709	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	36	chr11	85882630	.	A	G	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.256;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.843;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	18	0	1	0
chr11	86392745	86392745	A	T	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_001156474:exon4:c.A503T:p.D168V	.	429	1092	1	0	0	1	0.000457666	.	.	.	3296066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0521492676499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319474820	1.93e-05	1.847e-05	1.833e-05	2.028e-05	0.0004	1.321e-05	1.133e-05	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	2.317e-05	0	0	2.628e-05	2.627e-05	5.139e-05	0	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.083	0.41405	T	0.713	0.42139	P	0.36	0.43183	B	.	.	.	.	0.999925	0.81001	D	2.34	0.67151	M	0.72	0.50976	T	-5.63	0.86836	D	0.678	0.68516	-1.0303	0.20357	T	0.121	0.42058	T	8	0.5847764	0.66048	D	0.052149	0.64951	D	0.340	0.66202	.	.	0.479056812784	0.47537	0.8159484030185777	0.81550	0.475427852183	0.46717	0.449824810028	0.31920	T	0.117639	0.43787	T	-0.0388504	0.46119	T	-0.0782473	0.65032	T	0.482591927051544	0.31992	T	0.823718	0.48487	T	0.45384982	0.64285	0.6373813	0.78825	0.45384982	0.64285	0.6373813	0.78826	-11.44	0.82016	D	.	.	0.393	0.59171	A	.	.	3.775543	0.54258	23.5	0.76350062237108207	0.11433	0.92427	0.55687	D	AEFI	0.672898	0.63914	D	-0.0786640535769493	0.38330	2.24324	-0.043738936825297	0.37763	2.215446	0.663387597057153	0.22295	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	4.56	0.55644	6.458000	0.73425	8.035000	0.76290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9243:0.0:0.0757:0.0	10.749	0.45395	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1439.33	37	chr11	86392745	.	A	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=733;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.35;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr11	88509366	88509366	G	C	exonic	GRM5	.	nonsynonymous SNV	GRM5:NM_000842:exon9:c.C2769G:p.S923R,GRM5:NM_001384268:exon9:c.C2769G:p.S923R,GRM5:NM_001143831:exon10:c.C2865G:p.S955R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.211227239201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.023	0.57104	D	0.589	0.39027	P	0.215	0.37512	B	0.000756	0.42006	D	0.294459	0.553412	0.81001	D	1.78	0.46185	L	-2.38	0.88847	D	-1.73	0.41046	N	0.239	0.38950	-0.2189	0.77180	T	0.554	0.83705	D	9	0.21343762	0.37835	T	0.211227	0.87294	D	0.539	0.80723	0.239	0.17065	0.705852965738	0.70329	0.6169724474375451	0.61629	.	.	0.765123605728	0.76694	T	0.199932	0.55735	T	0.185374	0.72537	D	0.0285008	0.72180	D	0.848348736763	0.50023	D	0.829117	0.49388	T	0.39000767	0.60033	0.45045152	0.68019	0.39000767	0.60033	0.45045152	0.68020	-4.38	0.29285	T	.	.	0.547	0.66670	A	.;.;.	.;.;.	3.792555	0.54594	23.5	0.99469126948110964	0.66259	0.92840	0.56674	D	AEFDBHCI	0.356251	0.44770	N	-0.055382213457745	0.39362	2.320009	0.0279358708015932	0.41016	2.45725	0.999986510833388	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	2.821000	0.47765	6.294000	0.55403	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0727:0.0:0.9273:0.0	14.181	0.65110	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3207.81	38	chr11	88509366	.	G	C	3207.81	.	AC=2;AF=0.053;AN=38;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.14;SOR=0.752	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chr11	89444196	89444196	T	C	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon4:c.A311G:p.N104S,NOX4:NM_001143836:exon5:c.A386G:p.N129S,NOX4:NM_001291926:exon5:c.A164G:p.N55S,NOX4:NM_001291927:exon5:c.A449G:p.N150S,NOX4:NM_001300995:exon5:c.A314G:p.N105S,NOX4:NM_016931:exon5:c.A386G:p.N129S,NOX4:NM_001143837:exon8:c.A314G:p.N105S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.21702248187	.	.	5.79e-05	0	0	0.0005	0	3.008e-05	0.0011	0	4.53e-05	7	154602	rs753230366	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0002	2.282e-05	2.033e-05	0.0001	8.778e-05	0	0	0.0008	0.0002	1.872e-05	0	7.196e-06	8.281e-05	0	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	6.862e-05	2.87e-05	0	0	6.551e-05	0	0.0004	0	0	0	0	0	0.118	0.28148	T	0.488	0.37310	T	0.073	0.31319	B	0.074	0.38432	B	0.001470	0.38917	N	0.276160	0.989858	0.81001	D	2.37	0.68279	M	-2.72	0.90622	D	-1.96	0.47008	N	0.341	0.38232	0.056	0.83358	D	0.655	0.87996	D	9	0.36495686	0.53027	T	0.217022	0.87588	D	0.367	0.68670	0.815	0.92992	0.880952075582	0.87978	0.3759652565613953	0.37510	0.0440837947747	0.04745	0.436702549458	0.30127	T	0.272867	0.64528	T	-0.30522	0.08175	T	-0.37588	0.36204	T	0.0564761804603757	0.06601	T	0.853715	0.53946	D	0.034224413	0.03801	0.05589514	0.09889	0.034224413	0.03800	0.05589514	0.09889	-10.09	0.74775	D	.	.	0.094	0.30529	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.812079	0.23026	15.86	0.98835363619644745	0.47018	0.79950	0.39722	D	AEFDBI	0.429109	0.49236	N	-0.144105177002451	0.35487	2.038904	-0.0290017578959833	0.38411	2.262617	0.999984943330519	0.51787	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.16	4.04	0.46262	1.479000	0.35061	2.862000	0.35209	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0813:0.0:0.9187	10.083	0.41574	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;.;Ferric reductase transmembrane component-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	33	chr11	89444196	.	T	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.665;DP=766;ExcessHet=0;FS=2.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.11;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	18	0	1	0
chr11	89798233	89798233	G	C	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.C1256G:p.T419S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0061691906019	.	.	0.0006	0	0.0004	0	0	0	0	0.0034	3.84e-05	1	26028	rs758579239	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0003	0	0	0	0	3.442e-05	0.0001	0.0027	9.785e-05	0.0001	4.695e-05	0.0002	0.0023	5.606e-05	4.409e-05	0.0012	0.0009	0	0	0.0002	0	0	0	0	1.656e-05	0	0.0023	0.863	0.06779	T	0.756	0.07368	T	0.001	0.07471	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	1.915	0.51223	L	-0.42	0.69536	T	-0.77	0.21429	N	0.056	0.06322	-0.9451	0.41797	T	0.191	0.54330	T	8	0.024606168	0.00683	T	0.006169	0.16170	T	0.078	0.22779	0.455	0.51938	0.0934897674506	0.08844	0.03727013423701432	0.03674	1.10741529894	0.77938	0.435110449791	0.29908	T	0.006775	0.06199	T	-0.566878	0.00231	T	-0.590736	0.13603	T	0.0173074851716926	0.00470	T	0.0806919	0.00751	T	0.056763813	0.11210	0.053675715	0.09086	0.056763813	0.11210	0.053675715	0.09086	-5.371	0.40640	T	.	.	0.179	0.39064	B	.;.	.;.	-0.778027	0.01151	0.054	0.23255279939153828	0.00974	0.00160	0.00956	N	AEFI	0.025739	0.01815	N	-1.39109188770268	0.02721	0.1205482	-1.5450156243789	0.02010	0.09186255	1.86549095903962E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.68	0.07773	-1.865000	0.01741	-20.000000	0.00162	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5926:0.4074:0.0	6.580	0.21783	834	0.38640	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3812.81	39	chr11	89798233	.	G	C	3812.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.409;DP=745;ExcessHet=0;FS=2.582;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=43.31;MQRankSum=2.46;QD=30.26;ReadPosRankSum=-2.281;SOR=0.249	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	18	1	0	0
chr11	89798596	89798596	T	A	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.A893T:p.N298I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00116388848747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.065e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.57e-06	7.377e-06	1.655e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	0.382	0.11262	T	0.233	0.26066	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	P	0.77	0.19370	N	3.61	0.04446	T	-2.37	0.52289	N	0.097	0.08646	-0.9187	0.45729	T	0.008	0.02926	T	7	0.10028699	0.18253	T	0.001164	0.01459	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.04938783207369222	0.04881	1.44203539607	0.85998	0.334336340427	0.15588	T	0.059417	0.31111	T	-0.377	0.03254	T	-0.779311	0.02474	T	0.0247588385099668	0.01242	T	0.533547	0.17787	T	0.101269715	0.23920	0.07123878	0.15231	0.101269715	0.23920	0.07123878	0.15231	-5.954	0.45892	T	.	.	0.133	0.28721	B	.;.	.;.	0.077176	0.04842	1.439	0.37597660605401922	0.02487	0.00232	0.01297	N	AEFI	0.032790	0.03771	N	-1.62520110813126	0.01144	0.04969927	-1.73266627541319	0.01000	0.04482244	2.44542554862413E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	-0.818	0.10286	-2.406000	0.01121	-20.000000	0.00162	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.0:0.7374	4.687	0.12144	834	0.38640	Butyrophylin-like, SPRY domain|B30.2/SPRY domain;Butyrophylin-like, SPRY domain|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	9438.84	154	chr11	89798596	.	T	A	9438.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.983;DP=2554;ExcessHet=1.0583;FS=0.609;InbreedingCoeff=0.0307;MLEAC=1;MLEAF=0.026;MQ=46.51;MQRankSum=-5.499;QD=6.46;ReadPosRankSum=2.15;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:135:23:.:.:23,389,4031:.	18	0	1	0
chr11	89801771	89801771	C	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon5:c.G669A:p.M223I	.	932	588	1	1	0	3	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00092450730519	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs1293181294	0.0059	0.0047	0.0054	0.0063	0.0123	0.0057	0.0057	0.0115	0.0112	0.0007	0.0012	0.0076	3.252e-05	0.0040	0.0063	0.0062	0.0049	0.0123	0.0047	0.0040	0.0047	0.0047	0.0094	0.0043	0.0042	0.0063	0.0060	0.0013	0	0.0020	0.0108	0	0.0054	0.0043	0.0070	0.0037	0.0094	0.174	0.22486	T	0.144	0.33109	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.78	0.03836	T	-1.37	0.33998	N	0.073	0.04668	-0.9105	0.46793	T	0.007	0.02439	T	8	0.006237954	0.00141	T	9.25E-4	0.00889	T	0.019	0.03383	0.522	0.62518	0.043077524339	0.03247	0.03044526464113662	0.02993	2.0043789819	0.93871	0.581990838051	0.50366	T	0.009759	0.08861	T	-0.403208	0.02206	T	-0.816957	0.01515	T	0.00147990334572773	0.00015	T	0.164884	0.01516	T	0.06968662	0.15290	0.07089837	0.15120	0.06968662	0.15289	0.07089837	0.15120	-3.569	0.17410	T	.	.	0.325	0.54890	B	.	.	-0.010184	0.04214	1.030	0.56072420918090116	0.05474	0.00301	0.01603	N	AEFI	0.028021	0.02391	N	-1.34955498525589	0.03130	0.139301	-1.46367434187579	0.02649	0.1221927	2.14990174235377E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-1.99	0.07047	-1.951000	0.01620	-20.000000	0.00162	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4342:0.3158:0.2501	2.504	0.04358	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	86.36	9	chr11	89801771	.	C	T	86.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.803;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=26.79;MQRankSum=0.589;QD=9.6;ReadPosRankSum=0.7;SOR=0.527	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	18	0	1	0
chr11	89803764	89803764	C	A	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon4:c.G441T:p.L147F	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0101487780628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.365e-06	2.056e-06	3.114e-06	1.597e-06	5.477e-05	6.3e-07	1.8e-07	9.07e-06	3.39e-06	0	0	0	5.477e-05	0	0	0	1.892e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.58626	D	0.071	0.43531	T	0.983	0.60381	D	0.91	0.64641	D	.	.	.	.	1	0.08975	N	3.105	0.87672	M	0.1	0.61326	T	-3.25	0.65283	D	0.168	0.17828	-0.7513	0.57867	T	0.273	0.64443	T	8	0.15585715	0.29366	T	0.010149	0.26346	T	0.199	0.48268	0.427	0.47350	0.0675242888579	0.06100	0.03532687602182797	0.03479	3.36241963825	0.99660	0.449546217918	0.31881	T	0.087532	0.37962	T	-0.223529	0.17514	T	-0.558861	0.16483	T	0.673591256141663	0.39498	D	0.817118	0.49142	T	0.097184926	0.22905	0.11820953	0.28534	0.097184926	0.22905	0.11820953	0.28534	-6.158	0.47582	T	.	.	0.371	0.57902	A	.;.	.;.	1.163555	0.15528	11.92	0.92854056625378856	0.22394	0.00111	0.00708	N	AEFI	0.024509	0.01528	N	-1.04841507474323	0.07619	0.3545328	-1.40135626185029	0.03238	0.1506723	6.29081650606823E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.861	-1.72	0.07671	-1.624000	0.02141	-20.000000	0.00162	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.170000	0.20979	0.2446:0.4331:0.0:0.3223	2.590	0.04546	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	15	chr11	89803764	.	C	A	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.096;DP=464;ExcessHet=0;FS=2.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.02;MQRankSum=0.524;QD=12.82;ReadPosRankSum=0.98;SOR=0.129	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	18	0	1	0
chr11	89875070	89875070	T	A	exonic	TRIM64B	.	stopgain	TRIM64B:NM_001164397:exon2:c.A412T:p.K138X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302025115	7.883e-06	1.231e-05	5.657e-06	1.017e-05	9.293e-06	4.23e-06	3.09e-06	4.7e-06	3.43e-06	0	0	0	0	0	0	9.293e-06	1.73e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15311	0.69559	D	-0.00702572	0.69879	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.214960	0.63706	24.6	0.98994139066150977	0.50003	0.01843	0.05707	N	AEFI	0.022088	0.01060	N	0.165294046581012	0.49538	3.153097	-0.255115497087078	0.29594	1.659349	2.09323605919627E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.73	1.73	0.23565	1.372000	0.33866	-2.450000	0.03739	0.321000	0.19380	0.011000	0.18532	0.000000	0.08366	0.030000	0.13115	0.0:0.0:0.0:1.0	5.595	0.16605	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1257.33	36	chr11	89875070	.	T	A	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.337;DP=1005;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.3;MQRankSum=-3.091;QD=3.63;ReadPosRankSum=-0.894;SOR=0.691	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	89875824	89875824	T	-	exonic	TRIM64B	.	frameshift deletion	TRIM64B:NM_001164397:exon1:c.194delA:p.N65Tfs*12	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0121805	0.0065	0	0.0135	0.0303	0.0577	0.0014	0.0369	0.0008	0.0024205	63	26028	rs202171686	0.0033	0.0033	0.0034	0.0032	0.0413	0.0033	0.0032	0.0396	0.0389	6.339e-05	0.0117	3.972e-05	0.0413	0.0459	0	0.0003	0.0032	0.0004	0.0054	0.0063	0.0034	0.0074	0.0401	0.0050	0.0049	0.0355	0.0337	0.0002	0	0.0045	0	0.0401	0.0467	0	0.0007	0.0048	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003641	0.000000	0.000000	0.000000	0.000000	0.000000	0.014493	0.009804	0.02632	4018.29	47	chr11	89875823	.	GT	G	4018.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=1019;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.4;MQRankSum=-0.744;QD=23.09;ReadPosRankSum=0.991;SOR=0.669	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	89968594	89968594	G	C	exonic	TRIM64	.	nonsynonymous SNV	TRIM64:NM_001136486:exon2:c.G91C:p.G31R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0018	0.0213	0	0	0	0	0	0	0.0001153	3	26028	rs540057745	0.0001	0.0002	8.32e-05	0.0001	0.0084	8.201e-05	7.357e-05	0.0064	0.0057	0.0084	0.0001	0	0	0	0	7.545e-06	0.0002	6.783e-05	0	9.336e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	.	.	.	.	.	.	.	2.99	0.85699	M	.	.	.	.	.	.	0.494	0.52740	.	.	.	.	.	.	.	0.015367538	0.00322	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.04535406197180337	0.04479	.	.	0.738936662674	0.72816	T	0.668497	0.90134	D	-0.154041	0.27683	T	0.00732045	0.70809	D	.	.	.	0.946005	0.79398	D	0.093665734	0.22004	0.27284545	0.53199	0.093665734	0.22004	0.27284545	0.53198	-8.406	0.63805	D	.	.	0.527	0.65807	A	.	.	3.330979	0.45857	22.2	0.70554668525978792	0.09334	0.62111	0.31683	D	AEFI	.	.	.	.	.	.	.	.	.	6.60723711728495E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.132552	0.26023	1.72	1.72	0.23498	2.451000	0.44610	4.585000	0.43935	0.324000	0.19419	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:1.0:0.0	9.119	0.35939	856	0.34373	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004902	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	108.17	45	chr11	89968594	.	G	C	108.17	.	AC=2;AF=0.083;AN=24;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=0.9293;MLEAC=2;MLEAF=0.083;MQ=45.4;QD=30.15;SOR=2.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	11	1	0	7
chr11	90041084	90041084	G	T	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.G893T:p.S298I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000863922305404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.911e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.202	0.27414	T	0.356	0.33761	B	0.089	0.29769	B	.	.	.	.	1	0.08975	N	2.86	0.83026	M	3.57	0.04645	T	-2.24	0.50175	N	0.124	0.11626	-0.9869	0.33371	T	0.015	0.05801	T	8	0.1714926	0.31872	T	8.64E-4	0.00755	T	0.023	0.04649	0.621	0.75576	0.0986583533028	0.09354	0.0367505531067137	0.03622	2.1666736912	0.95441	0.372242420912	0.21153	T	0.098952	0.40328	T	-0.323069	0.06649	T	-0.701842	0.05726	T	0.319058060646057	0.25784	T	0.655434	0.26547	T	0.07130871	0.15778	0.06850487	0.14314	0.07130871	0.15777	0.06850487	0.14313	-6.598	0.51038	T	.	.	0.152	0.33732	B	.	.	0.030084	0.04492	1.202	0.20437026457783802	0.00735	0.00423	0.02085	N	AEFI	0.027895	0.02361	N	-0.959999858008521	0.09469	0.4483073	-1.17038940689344	0.06409	0.3084263	1.25701302786964E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.823	-0.634	0.10937	-1.320000	0.02808	-8.534000	0.00954	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4432:0.0:0.5568:0.0	3.202	0.06255	900	0.24599	Butyrophylin-like, SPRY domain|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	300.33	37	chr11	90041084	.	G	T	300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.542;DP=3217;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=44.6;MQRankSum=-3.977;QD=2.59;ReadPosRankSum=0.206;SOR=0.434	GT:AD:DP:GQ:PL	0/0:287,0:287:99:0,120,1800	18	0	1	0
chr11	90041177	90041177	T	C	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.T986C:p.L329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00128338082759	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369896954	4.126e-06	4.789e-06	4.103e-06	4.149e-06	3.613e-06	1.48e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	0	3.773e-05	0	3.613e-06	0	0	6.885e-06	6.601e-06	1.339e-05	0	1.524e-05	0	0	.	.	0	0	0	0	0	0	0	1.524e-05	0	0	0.043	0.41364	D	0.07	0.43721	T	0.044	0.21686	B	0.039	0.23607	B	.	.	.	.	0.99978	0.20372	N	1.83	0.48079	L	3.56	0.04696	T	-2.21	0.49684	N	0.223	0.25006	-0.9297	0.44183	T	0.012	0.04558	T	8	0.11259881	0.21126	T	0.001283	0.01759	T	0.054	0.15330	0.66	0.79791	0.0551355673512	0.04727	0.18863070004805815	0.18781	2.4809715762	0.97539	0.453893363476	0.32476	T	0.038339	0.24803	T	-0.234905	0.16006	T	-0.575201	0.14976	T	0.054563395967886	0.06284	T	0.455954	0.13062	T	0.3708531	0.58648	0.367096	0.62026	0.3708531	0.58648	0.367096	0.62026	-7.431	0.57123	T	.	.	0.372	0.57963	A	.	.	0.291946	0.06680	3.185	0.79511877321532709	0.12775	0.00106	0.00678	N	AEFI	0.030363	0.03039	N	-1.13665766355582	0.06002	0.2751708	-1.28213597478202	0.04672	0.220915	1.19682332411761E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.823	-0.775	0.10433	-2.358000	0.01165	-15.955000	0.00333	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.4432:0.0:0.5568	3.109	0.05968	900	0.24599	Butyrophylin-like, SPRY domain|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2284.33	37	chr11	90041177	.	T	C	2284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.398;DP=3111;ExcessHet=0;FS=23.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.88;MQRankSum=2.26;QD=15.97;ReadPosRankSum=-2.306;SOR=0.208	GT:AD:DP:GQ:PL	0/0:287,0:287:99:0,120,1800	18	0	1	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	293.79	41	chr11	90086557	.	G	C	293.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.677;DP=682;ExcessHet=0.3672;FS=67.377;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.9;MQRankSum=-0.793;QD=3.19;ReadPosRankSum=1.79;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:42,4:46:48:0|1:90086557_G_C:0,48,1676:90086557	16	0	3	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	633.1	51	chr11	90086558	.	G	C	633.1	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.591;DP=741;ExcessHet=1.3;FS=178.578;InbreedingCoeff=-0.305;MLEAC=7;MLEAF=0.292;MQ=33.5;MQRankSum=-1.725;QD=3.88;ReadPosRankSum=1.32;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:51:0|1:90086557_G_C:51,0,825:90086557	7	0	5	7
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	305.57	36	chr11	90086559	.	T	C	305.57	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.422;DP=738;ExcessHet=0.3672;FS=79.824;InbreedingCoeff=-0.1128;MLEAC=3;MLEAF=0.083;MQ=34.27;MQRankSum=-0.793;QD=3.15;ReadPosRankSum=1.77;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:42,4:46:48:0|1:90086557_G_C:0,48,1676:90086557	15	0	3	1
chr11	92799891	92799891	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A6878G:p.N2293S,FAT3:NM_001367949:exon10:c.A6878G:p.N2293S	.	432	1046	40	4	0	48	0.0224299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0031	0.0267572	0.0200	0.0012	0.0284	0.0893	0.0168	0.0060	0.0245	0.0477	0.0170955	2643	154602	rs16918105	0.0092	0.0092	0.0082	0.0103	0.0860	0.0091	0.0090	0.0835	0.0826	0.0008	0.0230	0.0085	0.0860	0.0169	0.0071	0.0030	0.0128	0.0438	0.0099	0.0099	0.0084	0.0114	0.0771	0.0094	0.0093	0.0709	0.0684	0.0008	0	0.0163	0.0092	0.0771	0.0182	0.0272	0.0050	0.0085	0.0478	0.717	0.03961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796511	0.35047	D	-0.57	0.02306	N	0.81	0.48460	T	-0.58	0.17834	N	0.111	0.09772	-1.1001	0.04079	T	0.003	0.00800	T	9	0.0024277866	0.00036	T	.	.	.	0.070	0.20419	.	.	.	.	0.1229800749931978	0.12224	.	.	0.363619148731	0.19911	T	0.052076	0.29059	T	-0.672201	0.00053	T	-0.669802	0.07621	T	0.0112892504554269	0.00167	T	.	.	.	0.060208857	0.12327	0.07800317	0.17431	0.060208857	0.12327	0.07800317	0.17431	-4.076	0.24935	T	.	.	0.067	0.02399	B	.;.	.;.	2.029796	0.25795	16.89	0.66716581538814834	0.08140	0.85681	0.44840	D	AEFBI	0.147834	0.27159	N	-0.428568019365119	0.24473	1.321624	-0.177534942700834	0.32364	1.840586	0.0816051240587771	0.15878	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.94	4.83	0.61880	3.427000	0.52552	5.408000	0.48530	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9306:0.0:0.0694:0.0	11.484	0.49590	906	0.23090	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.000000	0.006793	0.008772	0.050000	0.008621	0.012195	0.030303	0.05263	9730.81	163	chr11	92799891	.	A	G	9730.81	.	AC=2;AF=0.053;AN=38;DP=2648;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.33;SOR=0.842	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	18	1	0	0
chr11	92969763	92969763	C	T	exonic	MTNR1B	.	nonsynonymous SNV	MTNR1B:NM_005959:exon1:c.C38T:p.A13V	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00479233	0.0031	0	0.0001	0	0	6.763e-05	0.0021	0.0332	0.0021669	335	154602	rs377415898	0.0012	0.0012	0.0007	0.0017	0.0202	0.0011	0.0011	0.0193	0.0190	0	2.839e-05	0	2.858e-05	0	0.0009	1.226e-05	0.0012	0.0202	0.0006	0.0006	0.0003	0.0009	0.0185	0.0005	0.0005	0.0154	0.0142	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0185	0.61	0.05468	T	0.395	0.15255	T	0.033	0.20350	B	0.004	0.10090	B	0.996923	0.07992	N	0.998364	1	0.08975	N	1.555	0.39373	L	-0.73	0.73100	T	-0.24	0.10833	N	0.166	0.17553	-0.9821	0.34515	T	0.174	0.51785	T	10	0.0037346184	0.00069	T	.	.	.	0.029	0.06676	.	.	0.604813161365	0.60165	0.5945592625864432	0.59385	0.15656143693	0.17672	0.565447151661	0.48035	T	0.062511	0.31935	T	-0.500718	0.00566	T	-0.475767	0.24897	T	0.0180812720496033	0.00531	T	0.642236	0.25428	T	0.024912335	0.01372	0.044776496	0.05876	0.024912335	0.01371	0.044776496	0.05875	-5.534	0.42185	T	.	.	0.112	0.21987	B	.	.	1.535091	0.19691	14.39	0.88003844708474355	0.17643	0.06508	0.12519	N	AEFDBHI	0.078349	0.15806	N	-0.987735893407713	0.08865	0.4173099	-1.00471132068037	0.09681	0.4830688	0.991392181199328	0.32474	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.19	1.76	0.23776	0.050000	0.14004	-1.254000	0.05898	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.521:0.3038:0.1752	6.380	0.20733	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006091	0.000000	0.002717	0.002924	0.000000	0.000000	0.003086	0.011364	0.02632	1220.33	33	chr11	92969763	.	C	T	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.874;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.09;SOR=0.773	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1323	18	0	1	0
chr11	92981635	92981635	C	T	exonic	MTNR1B	.	nonsynonymous SNV	MTNR1B:NM_005959:exon2:c.C412T:p.R138C	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709	0.356317699531	0.0009	0.000798722	0.0011	0.0003	0.0011	0	0	0.0013	0.0011	0.0017	0.0010931	169	154602	rs61746674	0.0013	0.0013	0.0013	0.0014	0.0023	0.0013	0.0013	0.0017	0.0016	0.0001	0.0005	0.0008	2.519e-05	5.616e-05	0.0023	0.0015	0.0011	0.0019	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0	0.0001	0.0009	0	9.413e-05	0.0034	0.0014	0.0014	0.0012	0.008	0.58626	D	0.01	0.65728	D	0.997	0.70673	D	0.924	0.65913	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.51	0.99008	H	-4.28	0.97126	D	-6.48	0.91522	D	0.596	0.61511	0.981	0.96870	D	0.945	0.98184	D	10	0.16388956	0.30675	T	0.356318	0.92399	D	0.709	0.89605	.	.	0.946344207893	0.94577	0.7976175587079167	0.79714	0.558204459078	0.52405	0.421830534935	0.28089	T	0.647007	0.89242	D	-0.117516	0.33531	T	0.0519437	0.73712	D	0.138522330492092	0.16147	T	0.966703	0.87848	D	0.68874824	0.77444	0.5614439	0.74624	0.68874824	0.77445	0.5614439	0.74625	-12.606	0.87677	D	.	.	0.763	0.75635	P	.	.	2.437495	0.31368	18.72	0.99705016991771578	0.80936	0.54765	0.29696	D	AEFBI	0.225995	0.35000	N	0.233489888325489	0.52827	3.454623	0.0689594197965708	0.42997	2.610748	8.89694901614827E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.97	2.09	0.26154	0.445000	0.21392	-1.392000	0.05547	-0.267000	0.06790	0.995000	0.38783	0.001000	0.17328	0.073000	0.16832	0.2071:0.6298:0.0:0.1631	6.225	0.19915	824	0.40336	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.050000	0.000000	0.006098	0.003788	0.05263	4216.83	36	chr11	92981635	.	C	T	4216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.986;DP=1019;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.129;SOR=0.579	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1348	17	0	2	0
chr11	93370164	93370164	C	T	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.C524T:p.S175F	.	452	1047	20	3	0	26	0.0122642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	0.0072	0.00339457	0.0102	0.0026	0.0103	0	0.0030	0.0116	0.0241	0.0167	0.0066881	1034	154602	rs34205920	0.0088	0.0090	0.0085	0.0090	0.0153	0.0086	0.0086	0.0146	0.0144	0.0012	0.0063	0.0171	0	0.0021	0.0065	0.0090	0.0093	0.0153	0.0066	0.0066	0.0070	0.0061	0.0143	0.0062	0.0061	0.0116	0.0106	0.0017	0.0461	0.0076	0.0164	0.0002	0.0019	0.0136	0.0089	0.0071	0.0143	0.005	0.78490	D	0.012	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000059	0.53742	D	0.081678	0.987964	0.40680	D	2.125	0.59049	M	1.94	0.22678	T	-2.91	0.62518	D	0.416	0.45615	-1.0156	0.25143	T	0.097	0.36496	T	10	0.008488923	0.00192	T	.	.	.	0.183	0.45592	.	.	0.643164361049	0.64021	0.39280954524381106	0.39195	0.17326477445	0.19515	0.562373280525	0.47602	T	0.162927	0.50778	T	-0.302329	0.08441	T	-0.195375	0.55084	T	0.0177573481128435	0.00505	T	0.913309	0.70392	D	0.55491143	0.70229	0.58325815	0.75838	0.55491143	0.70230	0.58325815	0.75839	-7.158	0.55179	T	.	.	0.243	0.53891	B	.;.;.;.	.;.;.;.	4.526798	0.71028	25.6	0.9979570481708312	0.88106	0.92133	0.55018	D	AEFDBI	0.520851	0.54554	D	0.66466072990148	0.77321	6.652248	0.655063634552734	0.78989	6.98842	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	3.471000	0.52871	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	C11orf54	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009586	0.000000	0.006793	0.002924	0.050000	0.017241	0.015337	0.011364	0.05263	2430.83	35	chr11	93370164	.	C	T	2430.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=836;ExcessHet=0.119;FS=4.399;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.219;SOR=0.974	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	17	0	2	0
chr11	93415089	93415089	T	A	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon13:c.T1613A:p.V538D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0056	0.0061901	0.0017	0.0190	0.0016	0	0	4.498e-05	0.0022	0	0.0016753	259	154602	rs192892352	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0164	0.0159	0.0175	0.0017	0	0	0	0.0005	1.982e-05	0.0013	1.171e-05	0.0059	0.0059	0.0059	0.0059	0.0194	0.0056	0.0055	0.0183	0.0178	0.0194	0	0.0048	0	0	0	0.0034	2.94e-05	0.0085	0	0.184	0.25873	T	0.091	0.40110	T	0.02	0.18235	B	0.023	0.19966	B	0.398723	0.04521	N	1.443640	0.999996	0.08975	N	1.79	0.46772	L	2.09	0.20122	T	-0.87	0.30140	N	0.403	0.44379	-1.0177	0.24463	T	0.016	0.06425	T	10	0.0036657453	0.00067	T	.	.	.	0.048	0.13305	.	.	0.104622674875	0.10061	0.2576660525795172	0.25680	0.0240295556062	0.02436	0.3212197721	0.13606	T	0.00221	0.19978	T	-0.563323	0.00242	T	-0.567015	0.15724	T	0.00682713037466728	0.00077	T	0.837116	0.50934	T	0.0958803	0.22573	0.07983601	0.18007	0.0958803	0.22573	0.07983601	0.18007	-2.714	0.07421	T	.	.	0.115	0.22861	B	.;.;.	.;.;.	-0.385061	0.02269	0.235	0.40091472388063659	0.02808	0.01070	0.03963	N	AEFIJ	0.042432	0.06582	N	-1.31278568280308	0.03528	0.1577521	-1.37305888609546	0.03541	0.1654103	8.57594770784085E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-3.8	0.04025	-1.914000	0.01670	-0.486000	0.08890	-0.128000	0.13240	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.1127:0.2248:0.2836:0.3789	1.638	0.02580	390	0.83257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	978.33	33	chr11	93415089	.	T	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.856;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1181	18	0	1	0
chr11	93699651	93699651	G	A	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.G4739A:p.R1580H	.	.	.	.	.	.	.	.	.	.	.	713254	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.0161673775141	0.0004	.	0.0016	0	0	0	0.0055	0.0028	0	0.0001	0.0003105	48	154602	rs202195781	0.0016	0.0016	0.0015	0.0017	0.0018	0.0016	0.0015	0.0017	0.0017	0.0003	0.0006	0.0002	0	0.0043	0.0004	0.0018	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0023	0.0012	0.0011	0.0020	0.0019	2.406e-05	0	0.0002	0	0	0.0031	0	0.0023	0.0019	0	0.021	0.49117	D	0.281	0.21612	T	0.489	0.36925	P	0.007	0.12992	B	0.931861	0.07541	N	1.040950	1	0.08975	N	.	.	.	2.13	0.19588	T	0.13	0.05503	N	0.068	0.04072	-1.0166	0.24819	T	0.019	0.08173	T	10	0.0057857037	0.00129	T	0.016167	0.37293	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.053132961293230134	0.05255	0.103024876547	0.11653	0.220037311316	0.01312	T	0.00526	0.04708	T	-0.594678	0.00157	T	-0.626998	0.10643	T	0.0197853442473981	0.00680	T	0.321368	0.06521	T	0.034950886	0.04022	0.031583913	0.01768	0.034950886	0.04022	0.031583913	0.01768	-2.734	0.07593	T	.	.	0.088	0.11845	B	.	.	1.122897	0.15086	11.58	0.81130710269825457	0.13534	0.03395	0.08508	N	AEFBI	0.040712	0.06093	N	-1.12670761669533	0.06172	0.2834006	-1.17828875029594	0.06273	0.3014731	0.0392426421148575	0.14385	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.63	-0.647	0.10892	0.024000	0.13447	-1.246000	0.05919	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4156:0.3095:0.2749	4.584	0.11668	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2310.33	33	chr11	93699651	.	G	A	2310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=818;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.489;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	93727325	93727325	A	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.A6849T:p.E2283D	.	430	1090	2	0	0	2	0.00091659	.	.	.	2329331	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0419547572408	.	0.000199681	0.0002	0	0	0	0	0.0002	0.0041	0.0001	5.82e-05	9	154602	rs536161119	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	9.746e-05	0.0022	0.0018	0.0002	0.0004	3.972e-05	2.8e-05	4.058e-05	0.0033	8.064e-05	0.0004	0.0002	0.0001	0.0001	8.991e-05	0.0001	0.0004	7.57e-05	6.276e-05	0.0001	8.877e-05	2.405e-05	0	6.533e-05	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.24468	T	0.024	0.56640	D	0.033	0.20350	B	0.04	0.23831	B	.	.	.	.	0.999192	0.21520	N	.	.	.	2.47	0.14783	T	-1.08	0.42384	N	0.096	0.07673	-1.0010	0.29631	T	0.036	0.15422	T	9	0.02487868	0.00701	T	0.041955	0.60207	D	0.070	0.20419	0.065	0.00293	0.0297737177859	0.01360	0.03516648478343382	0.03463	0.0761191393141	0.08543	0.277140378952	0.07097	T	0.023427	0.33181	T	-0.464445	0.00922	T	-0.610085	0.11978	T	0.0195697123576953	0.00660	T	0.686031	0.31167	T	0.06442637	0.13669	0.06335805	0.12537	0.06442637	0.13668	0.06335805	0.12537	-3.759	0.20194	T	.	.	0.123	0.26138	B	.;.;.	.;.;.	0.800298	0.11711	8.289	0.98407243204458605	0.41137	0.30881	0.24196	N	AEFDBCI	0.089272	0.18095	N	-0.739033509159682	0.14933	0.7481676	-0.763552604265894	0.15390	0.8091603	0.999556424343267	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.31	1.53	0.22224	0.364000	0.20053	1.530000	0.27153	0.691000	0.84096	0.295000	0.25279	0.329000	0.24363	0.101000	0.18331	0.6794:0.1544:0.1662:0.0	5.048	0.13834	836	0.38045	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2890.81	33	chr11	93727325	.	A	T	2890.81	.	AC=2;AF=0.053;AN=38;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.75;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	1	0	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.07895	5947.79	34	chr11	94104605	.	C	A	5947.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.34;DP=1086;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.578;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	16	0	3	0
chr11	94129374	94129374	C	G	exonic	PANX1	.	nonsynonymous SNV	PANX1:NM_015368:exon1:c.C62G:p.T21R	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00838094158356	.	0.00159744	0.0008	0	8.681e-05	0	0	0	0	0.0058	0.0006792	105	154602	rs558951523	0.0003	0.0003	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	0	4.475e-05	0	0	0	0.0002	8.994e-07	0.0002	0.0058	0.0002	0.0002	8.993e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0.0005	0.0058	0.635	0.05076	T	0.502	0.11115	T	0.199	0.29618	B	0.03	0.27542	B	0.174421	0.17280	N	0.603639	0.510093	0.31812	D	0.915	0.23335	L	1.57	0.29342	T	-0.7	0.19933	N	0.088	0.06587	-1.0378	0.17985	T	0.039	0.16935	T	10	0.0034027994	0.00060	T	0.008381	0.22181	T	0.039	0.10176	0.232	0.16005	0.152612264143	0.14878	0.5145145739270857	0.51373	0.0949741167654	0.10722	0.426400989294	0.28717	T	0.047004	0.27593	T	-0.590842	0.00166	T	-0.61873	0.11285	T	0.0528781307209104	0.05999	T	0.70163	0.31127	T	0.19160259	0.40794	0.1102491	0.26582	0.19160259	0.40794	0.1102491	0.26581	-5.324	0.40180	T	.	.	0.146	0.32128	B	.;.	.;.	2.110383	0.26858	17.26	0.90757391932121845	0.20007	0.27073	0.23175	N	ALL	0.263208	0.38080	N	-0.891090224080159	0.11054	0.5313971	-0.771615162106367	0.15193	0.7977614	0.999999999999904	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.11	3.17	0.35510	0.722000	0.25595	3.725000	0.39599	-0.456000	0.05128	0.000000	0.06391	0.175000	0.23375	0.976000	0.56436	0.1666:0.8334:0.0:0.0	12.697	0.56376	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	623.33	44	chr11	94129374	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=781;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.819;SOR=1	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.05263	3973.83	38	chr11	94528131	.	G	A	3973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=991;ExcessHet=0.119;FS=3.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.75;SOR=0.934	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	17	0	2	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.02632	1360.33	34	chr11	94589192	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=807;ExcessHet=0;FS=1.389;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.62;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr11	94593554	94593554	A	G	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon9:c.A1063G:p.M355V	.	436	1043	42	1	0	44	0.0206573	.	.	.	702038	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0067	0.00459265	0.0047	0.0129	0.0055	0	0.0003	0.0037	0.0088	0.0074	0.004586	709	154602	rs34492831	0.0039	0.0039	0.0037	0.0041	0.0189	0.0038	0.0037	0.0160	0.0150	0.0120	0.0049	0.0040	2.519e-05	0.0003	0.0189	0.0033	0.0059	0.0089	0.0061	0.0061	0.0060	0.0061	0.0129	0.0058	0.0056	0.0120	0.0116	0.0129	0.0011	0.0048	0.0032	0	0	0.0068	0.0036	0.0118	0.0066	0.791	0.03192	T	0.474	0.12107	T	0.0	0.02946	B	0.001	0.04355	B	0.087059	0.20554	N	0.422160	0.999746	0.20516	N	0.25	0.09762	N	2.62	0.12988	T	-0.62	0.18248	N	0.072	0.04547	-0.9581	0.39534	T	0.008	0.02884	T	10	0.008027405	0.00182	T	.	.	.	0.117	0.32689	.	.	0.15556083564	0.15200	0.33646312682960244	0.33559	0.292844032975	0.31705	0.303213775158	0.10881	T	0.049508	0.28327	T	-0.733065	0.00023	T	-0.814097	0.01575	T	0.000791278126423152	0.00007	T	0.668933	0.27772	T	0.054207113	0.10369	0.08011389	0.18094	0.054207113	0.10369	0.08011389	0.18093	-4.999	0.36829	T	.	.	0.050	0.00136	B	.	.	0.207442	0.05916	2.354	0.53700198470870886	0.04991	0.01050	0.03913	N	AEFI	0.025181	0.01684	N	-1.02090349749187	0.08170	0.3821699	-0.986236603951907	0.10094	0.5062335	0.74418407930807	0.23259	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	-0.778	0.10423	-0.376000	0.07522	1.074000	0.23831	-0.582000	0.04700	0.000000	0.06391	0.254000	0.23938	0.559000	0.30388	0.7495:0.0:0.2505:0.0	8.814	0.34144	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.020202	0.016304	0.023392	0.000000	0.000000	0.024390	0.022727	0.02632	1480.33	38	chr11	94593554	.	A	G	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=837;ExcessHet=0;FS=3.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.92;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	169.46	70	chr11	94618061	.	G	C	169.46	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.673;DP=1053;ExcessHet=0.119;FS=168.354;InbreedingCoeff=-0.0888;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.454;SOR=8.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:28:.:.:0,28,993:.	15	0	2	2
chr11	94859554	94859554	G	C	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon8:c.G1824C:p.M608I,AMOTL1:NM_130847:exon9:c.G1974C:p.M658I	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00369560749916	.	0.000199681	0.0001	0	0.0006	0	0	3.081e-05	0	0.0003	9.7e-05	15	154602	rs553703205	6.024e-05	6.088e-05	4.495e-05	7.569e-05	0.0005	4.965e-05	4.63e-05	0.0004	0.0003	5.987e-05	0.0005	0	0	0	0.0005	1.799e-05	0.0001	0.0004	3.283e-05	3.281e-05	1.285e-05	5.373e-05	0.0003	1.26e-05	7.98e-06	8.873e-05	5.283e-05	2.407e-05	0	0.0003	0	0	0	0	0	0	0	0.397	0.10588	T	0.256	0.23298	T	0.0	0.02946	B	0.001	0.04355	B	0.626763	0.10726	N	0.847299	1	0.18878	N	0.205	0.09354	N	2.33	0.16492	T	0.05	0.06369	N	0.114	0.10198	-0.9793	0.35162	T	0.024	0.10058	T	10	0.012263775	0.00264	T	0.003696	0.08527	T	0.046	0.12618	0.126	0.03173	0.139678290688	0.13603	0.22784242620508877	0.22699	0.21886707639	0.24425	0.313777118921	0.12478	T	0.006477	0.05912	T	-0.60574	0.00134	T	-0.77373	0.02648	T	0.00749378830832664	0.00087	T	0.152385	0.01298	T	0.0403018	0.05725	0.03093169	0.01613	0.0403018	0.05725	0.03093169	0.01612	-2.674	0.07847	T	.	.	0.094	0.27069	B	.;.	.;.	0.356599	0.07293	3.903	0.61386066780813964	0.06696	0.10276	0.15827	N	AEFBI	0.060558	0.11517	N	-0.887042163363177	0.11150	0.5365286	-0.846185019768306	0.13379	0.6937401	0.892119771954725	0.25876	0.719381	0.83141	0	0.610034	0.51514	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	6.08	3.16	0.35406	0.065000	0.14336	0.991000	0.23192	-0.123000	0.13640	0.002000	0.15269	0.979000	0.30280	0.030000	0.13115	0.0649:0.3328:0.3833:0.2191	5.500	0.16118	862	0.33134	.;Angiomotin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	854.33	33	chr11	94859554	.	G	C	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.779;DP=673;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.602;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.000000	0.013587	0.020468	0.050000	0.008621	0.009146	0.034091	0.02632	2341.33	33	chr11	94998442	.	A	G	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.073;DP=805;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.807;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr11	94998559	94998559	G	A	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.G1187A:p.R396Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	3265360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00677372582591	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0.0011	0.0013	0.0002005	31	154602	rs200979184	0.0002	0.0002	0.0001	0.0002	0.0092	0.0001	0.0001	0.0072	0.0065	5.974e-05	6.708e-05	0	0	1.897e-05	0.0092	4.047e-05	0.0003	0.0012	0.0001	0.0001	7.71e-05	0.0001	0.0017	7.087e-05	5.744e-05	0.0008	0.0006	2.406e-05	0	0.0002	0	0	0	0	5.882e-05	0.0005	0.0017	0.595	0.05720	T	0.576	0.08624	T	0.847	0.46818	P	0.072	0.28043	B	0.007553	0.01172	N	2587.410000	1	0.08975	N	1.1	0.28011	L	1.68	0.27184	T	-0.26	0.11185	N	0.061	0.03502	-1.0318	0.19873	T	0.026	0.10998	T	10	0.011173248	0.00245	T	0.006774	0.17897	T	0.019	0.03383	.	.	0.19670166235	0.19296	0.11183981764065659	0.11112	0.884254116262	0.69901	0.303763061762	0.10964	T	0.05903	0.31006	T	-0.638452	0.00085	T	-0.730402	0.04310	T	0.012719099437714	0.00215	T	0.40026	0.10182	T	0.019128863	0.00438	0.022312364	0.00259	0.019128863	0.00438	0.022312364	0.00259	-4.216	0.26983	T	.	.	0.085	0.11172	B	.;.;.	.;.;.	-0.138839	0.03417	0.621	0.92096593265501114	0.21447	0.01566	0.05117	N	AEFDGBI	0.026961	0.02118	N	-1.08199454966329	0.06975	0.3226534	-1.19972545666616	0.05915	0.2832113	0.0104810926374121	0.12033	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.567892	0.33627	0	.	.	3.51	-0.582	0.11122	-1.219000	0.03083	-1.089000	0.06365	-1.582000	0.00918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3503:0.204:0.4457:0.0	3.616	0.07620	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.008152	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	1800.33	33	chr11	94998559	.	G	A	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=894;ExcessHet=0;FS=4.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.11;SOR=1.112	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr11	96093478	96093478	A	T	exonic	MAML2	.	nonsynonymous SNV	MAML2:NM_032427:exon2:c.T553A:p.S185T	Mucoepidermoid salivary gland carcinoma (3)	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.019740264582	0.0002	0.000798722	0.0006	0	0.0003	0.0001	0	0.0002	0	0.0031	0.000511	79	154602	rs112561533	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0025	0.0024	5.979e-05	0.0007	0	0	0	0.0035	0.0002	0.0008	0.0028	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0	0	0.0005	0	0	0	0.0102	0.0003	0.0005	0.0031	0.015	0.52492	D	0.786	0.23707	T	0.456	0.36269	P	0.068	0.27651	B	0.020291	0.27071	N	0.313567	0.994	0.23644	N	2.16	0.60381	M	-0.16	0.65378	T	-2.01	0.46337	N	0.249	0.28146	-0.9517	0.40678	T	0.154	0.48412	T	10	0.010164976	0.00227	T	0.01974	0.42178	T	0.058	0.16647	.	.	0.500690566029	0.49707	0.41192393387336534	0.41108	0.254004967463	0.27969	0.433173954487	0.29642	T	0.31822	0.71911	T	-0.388604	0.02747	T	-0.335283	0.40877	T	0.0147177972826394	0.00306	T	0.60064	0.22426	T	0.1419236	0.32683	0.12597318	0.30345	0.1419236	0.32682	0.12597318	0.30344	-5.173	0.38666	T	.	.	0.100	0.27821	B	.;.	.;.	1.617734	0.20668	14.85	0.97805215975248527	0.36091	0.91415	0.53487	D	AEFBI	0.156397	0.28175	N	-0.093845232112369	0.37661	2.194402	-0.00953289959923829	0.39284	2.326812	0.997398562287705	0.35572	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.14	3.97	0.45241	0.825000	0.27047	3.957000	0.40718	0.756000	0.94297	0.691000	0.28541	1.000000	0.68203	0.995000	0.73285	0.7642:0.1576:0.0782:0.0	6.546	0.21603	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003532	0.000000	0.004076	0.011834	0.000000	0.000000	0.000000	0.003788	0.02632	1323.33	40	chr11	96093478	.	A	T	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=826;ExcessHet=0;FS=4.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-1.253;SOR=0.371	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.07895	8473.79	304	chr11	96384356	.	C	T	8473.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.71;DP=1537;ExcessHet=0.3672;FS=3.29;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.628;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1121	16	0	3	0
chr11	100193496	100193496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon12:c.A1495G:p.R499G,CNTN5:NM_001243270:exon14:c.A1717G:p.R573G,CNTN5:NM_001243271:exon15:c.A1717G:p.R573G,CNTN5:NM_014361:exon15:c.A1717G:p.R573G	.	437	1054	27	4	0	35	0.0163322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0007	0.00159744	0.0044	0	0.0030	0	0	0.0027	0	0.0161	0.0020569	318	154602	rs200731024	0.0016	0.0016	0.0012	0.0020	0.0123	0.0015	0.0015	0.0117	0.0114	3.133e-05	0.0012	0.0107	0	0	0.0071	0.0007	0.0023	0.0123	0.0011	0.0011	0.0009	0.0012	0.0097	0.0009	0.0009	0.0075	0.0067	7.223e-05	0	0.0012	0.0078	0	0	0.0170	0.0009	0.0024	0.0097	0.012	0.54683	D	0.035	0.53072	D	0.96	0.55278	D	0.859	0.61184	P	0.000012	0.62929	D	0.175821	0.996414	0.43191	D	2.275	0.64647	M	1.58	0.29085	T	-3.91	0.74427	D	0.668	0.69562	-0.9319	0.43859	T	0.147	0.47255	T	10	0.013655394	0.00289	T	.	.	.	0.219	0.51417	.	.	0.563062970572	0.55969	0.8011983030890661	0.80073	0.248086709268	0.27368	0.428054273129	0.28942	T	0.612741	0.87751	D	-0.323379	0.06624	T	-0.227893	0.51976	T	0.120874370237199	0.14515	T	0.822518	0.48242	T	0.3360538	0.55963	0.38919717	0.63745	0.3360538	0.55963	0.38919717	0.63745	-9.233	0.69185	D	.	.	0.237	0.61316	B	.;.;.;.;.;.	.;.;.;.;.;.	3.973132	0.58349	24.0	0.9982098746423943	0.90414	0.79615	0.39485	D	AEFI	0.469586	0.51590	N	0.342777765884519	0.58359	4.007656	0.311364403568257	0.56206	3.78372	3.46423760961881E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.52	0.39415	1.332000	0.33410	6.815000	0.56657	0.756000	0.94297	0.955000	0.33325	1.000000	0.68203	0.971000	0.54645	0.7274:0.2726:0.0:0.0	12.087	0.53001	946	0.12043	.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.005051	0.004076	0.002924	0.000000	0.008621	0.012270	0.007576	0.02632	903.33	33	chr11	100193496	.	A	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.114;DP=723;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.366;SOR=0.362	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr11	100340496	100340496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon19:c.A2542G:p.T848A,CNTN5:NM_001243270:exon21:c.A2764G:p.T922A,CNTN5:NM_014361:exon22:c.A2764G:p.T922A	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0171525867503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001028	0.40562	N	0.240162	0.999915	0.19599	N	-0.045	0.04980	N	0.51	0.55439	T	-0.04	0.07590	N	0.148	0.18649	-1.0533	0.13493	T	0.071	0.28773	T	9	0.029596865	0.01086	T	0.017153	0.38730	T	0.024	0.04979	0.368	0.37687	0.221734844693	0.21761	0.12061430766964269	0.11988	0.0345670809689	0.03633	0.288050234318	0.08639	T	0.053933	0.29583	T	-0.246272	0.14559	T	-0.591529	0.13534	T	0.0425632306888298	0.04158	T	0.365963	0.08520	T	0.07037337	0.15496	0.036107402	0.02992	0.07037337	0.15496	0.036107402	0.02991	-4.789	0.34638	T	.	.	0.128	0.28377	B	.;.;.;.;.	.;.;.;.;.	0.862309	0.12349	8.886	0.37680956223303053	0.02497	0.10892	0.16265	N	AEFDGBI	0.055450	0.10170	N	-1.31738449363233	0.03476	0.1553445	-1.17870530405957	0.06267	0.3011079	0.0111706413931932	0.12141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	0.814	0.17897	1.323000	0.33307	0.802000	0.21668	-1.080000	0.01570	1.000000	0.71638	0.993000	0.31925	0.964000	0.52637	0.1476:0.0:0.5828:0.2696	5.854	0.17960	916	0.20744	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1360.33	34	chr11	100340496	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=734;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.589;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1442	18	0	1	0
chr11	100350751	100350751	A	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon21:c.A2858C:p.Q953P,CNTN5:NM_001243270:exon23:c.A3080C:p.Q1027P,CNTN5:NM_014361:exon24:c.A3080C:p.Q1027P	.	429	1089	4	0	0	4	0.00183318	.	.	.	3206975	CNTN5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.222	.	.	0.00419329	0.0027	0.0002	0.0004	0	0	0	0.0011	0.0192	0.0022574	349	154602	rs200442733	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0175	0.0172	0.0002	0.0002	3.854e-05	5.048e-05	0	0.0009	9.919e-06	0.0011	0.0182	0.0005	0.0005	0.0003	0.0008	0.0164	0.0005	0.0004	0.0135	0.0124	4.817e-05	0	6.582e-05	0	0	0	0	0	0.0005	0.0164	0.065	0.37536	T	0.055	0.49942	T	0.007	0.14184	B	0.005	0.11217	B	0.000106	0.50451	D	0.177105	0.998846	0.45546	D	0.895	0.22405	L	0.67	0.52187	T	-1.43	0.35597	N	0.715	0.71765	-1.0562	0.12724	T	0.089	0.34188	T	9	0.0086761415	0.00196	T	.	.	.	0.222	0.51872	0.448	0.50793	0.616247408722	0.61314	0.7157807489366076	0.71521	0.0404934188175	0.04339	0.417039364576	0.27430	T	0.208514	0.56846	T	-0.158944	0.26923	T	0.0138476	0.71230	D	0.0281755723035135	0.01713	T	0.590841	0.21745	T	0.31306636	0.54049	0.38077706	0.63102	0.31306636	0.54049	0.38077706	0.63102	-4.195	0.26679	T	.	.	0.175	0.38390	B	.;.;.;.;.	.;.;.;.;.	2.698562	0.35241	19.85	0.98224542582863417	0.39334	0.81574	0.40950	D	AEFI	0.506194	0.53702	D	-0.184479348798076	0.33781	1.920425	0.0211962021177463	0.40700	2.433215	1.75541421441274E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	2.513000	0.45155	7.928000	0.74873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.602	0.68045	930	0.16408	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	941.33	33	chr11	100350751	.	A	C	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.31;DP=713;ExcessHet=0;FS=9.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.398;SOR=1.024	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1323	18	0	1	0
chr11	101488993	101488993	C	T	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon4:c.G1237A:p.V413I	Glomerulosclerosis, focal segmental, 2	.	.	.	.	.	.	.	.	.	.	3141603	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0250192704321	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs773420331	7.525e-06	7.525e-06	5.445e-06	9.626e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.517	0.07330	T	0.737	0.05036	T	0.998	0.73220	D	0.99	0.78936	D	0.000006	0.62929	D	0.106962	0.999979	0.81001	D	0.945	0.23706	L	-0.56	0.71187	T	-0.13	0.08971	N	0.479	0.51405	-0.5653	0.66200	T	0.395	0.74829	T	10	0.34780183	0.51707	T	0.025019	0.48002	D	0.290	0.60924	0.496	0.58520	0.800821260608	0.79896	0.2843145741639474	0.28344	0.892393200294	0.70274	0.425744593143	0.28626	T	0.21919	0.58213	T	-0.0591505	0.43039	T	-0.215085	0.53209	T	0.556836182013779	0.34736	D	0.853215	0.53849	D	0.1055928	0.24966	0.09973999	0.23825	0.1055928	0.24965	0.09973999	0.23825	-4.668	0.33015	T	0.14389444047008967	0.16395	0.119	0.26978	B	.;.	.;.	4.386108	0.67653	25.1	0.99149989221336365	0.53793	0.96114	0.67597	D	AEFBI	0.654031	0.62686	D	0.353560793852804	0.58928	4.068188	0.34334970142334	0.58108	3.97952	0.999977811677723	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.143000	0.71516	7.684000	0.65448	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	19.993	0.97375	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	614.33	43	chr11	101488993	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.984;DP=673;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.548;SOR=0.204	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	101894878	101894878	C	A	splicing	ANGPTL5	NM_178127:exon8:c.847+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.995e-05	0	0	0	0	9.069e-05	0	0	3.88e-05	6	154602	rs146549224	6.171e-05	6.157e-05	5.868e-05	6.476e-05	0.0002	5.106e-05	4.726e-05	3.726e-05	3.379e-05	0	0	0.0010	0	0	0.0002	4.778e-05	0.0001	1.161e-05	5.917e-05	5.91e-05	7.71e-05	4.039e-05	8.821e-05	3.079e-05	2.211e-05	3.762e-05	2.575e-05	0	0	6.55e-05	0.0003	0	0	0	8.821e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267739	0.80237	D	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.674637	0.74743	26.2	0.99238608326309208	0.56469	0.96383	0.68870	D	AEFBI	.	.	.	0.962408273024171	0.94464	12.77923	0.790413556669377	0.89120	9.845893	0.468120717507575	0.20683	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.894202	0.56145	5.38	4.46	0.53567	4.334000	0.59076	3.689000	0.39491	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.9285:0.0:0.0715	14.514	0.67394	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1544.83	41	chr11	101894878	.	C	A	1544.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.02;DP=699;ExcessHet=0.119;FS=4.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.633;SOR=1.17	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	17	0	2	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C,CFAP300:NM_032930:exon7:c.C754T:p.R252C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	317.84	97	chr11	102083149	.	C	T	317.84	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.3;DP=944;ExcessHet=0.7564;FS=421.434;InbreedingCoeff=-0.1244;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.71;SOR=9.401	GT:AD:DP:GQ:PL	0/0:26,0:26:48:0,48,450	15	0	4	0
chr11	102331119	102331119	G	A	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.G1202A:p.R401K,BIRC3:NM_182962:exon7:c.G1202A:p.R401K	.	438	1053	29	2	0	33	0.0154278	.	.	.	701528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00581824617469	0.0060	0.00379393	0.0059	0.0016	0.0025	0	0.0003	0.0090	0.0011	0.0038	0.0060154	930	154602	rs17881197	0.0082	0.0083	0.0084	0.0081	0.0149	0.0081	0.0081	0.0124	0.0114	0.0018	0.0031	0.0172	2.525e-05	0.0011	0.0149	0.0094	0.0076	0.0042	0.0054	0.0054	0.0059	0.0049	0.0082	0.0051	0.0050	0.0076	0.0074	0.0017	0	0.0082	0.0138	0	0.0005	0.0034	0.0082	0.0033	0.0025	0.152	0.24468	T	0.972	0.02471	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.145662	0.961759	0.26094	N	1.04	0.26193	L	2.07	0.20387	T	-0.25	0.11008	N	0.094	0.12055	-1.0247	0.22181	T	0.020	0.08500	T	10	0.006362766	0.00144	T	0.005818	0.15131	T	0.071	0.20720	.	.	0.435704348906	0.43193	0.40042119535168097	0.39957	0.29034342778	0.31437	0.306683242321	0.11406	T	0.07694	0.35537	T	-0.584895	0.00180	T	-0.601906	0.12652	T	0.01499739911791	0.00322	T	0.775222	0.40690	T	0.20565298	0.42714	0.16079606	0.37434	0.20565298	0.42713	0.16079606	0.37433	-3.354	0.14444	T	.	.	0.086	0.10449	B	.;.;.	.;.;.	3.123896	0.42190	21.5	0.96012916723923669	0.28451	0.90447	0.51630	D	AEFBCI	0.766927	0.70296	D	-0.401411524183567	0.25421	1.379769	-0.209592202056092	0.31189	1.762884	0.999934364952795	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.19	4.28	0.50183	6.630000	0.74133	7.575000	0.60810	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0741:0.0:0.9259:0.0	13.686	0.61996	789	0.46346	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.010101	0.012228	0.023392	0.000000	0.017241	0.003049	0.003788	0.02632	1585.33	33	chr11	102331119	.	G	A	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=748;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.188;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr11	102331167	102331167	T	G	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.T1250G:p.V417G,BIRC3:NM_182962:exon7:c.T1250G:p.V417G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0750554179024	.	.	1.653e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs779461718	6.842e-06	6.84e-06	5.447e-06	8.252e-06	0.0003	3.46e-06	2.52e-06	9.756e-05	6.955e-05	0.0002	2.237e-05	0	0	0	0.0003	0	0	0	3.286e-05	3.283e-05	1.285e-05	5.38e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.016	0.51853	D	0.001	0.83351	D	0.955	0.54515	P	0.774	0.57014	P	0.000004	0.62929	D	0.105421	1	0.81001	D	2.34	0.67151	M	1.62	0.28189	T	-5.87	0.88630	D	0.654	0.68690	-0.6358	0.63324	T	0.190	0.54213	T	10	0.84608155	0.83774	D	0.075055	0.72193	D	0.508	0.78848	.	.	0.832705769219	0.83112	0.818859214115156	0.81842	1.04814267846	0.76033	0.470021396875	0.34683	T	0.587737	0.86598	D	0.0403812	0.57097	T	0.0996634	0.76885	D	0.968274652957916	0.68188	D	0.663034	0.27207	T	0.6524137	0.75493	0.53749514	0.73273	0.6524137	0.75494	0.53749514	0.73273	-14.688	0.95078	D	.	.	0.907	0.83252	P	.;.;.	.;.;.	3.991694	0.58755	24.0	0.99315673813189043	0.59166	0.96621	0.70062	D	AEFBCI	0.913021	0.87443	D	0.58195537271134	0.72050	5.744951	0.489618846149146	0.67302	5.065631	0.99999999936641	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.904000	0.86152	7.874000	0.72122	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.081000	0.17303	0.0:0.0:0.0:1.0	15.440	0.74900	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	869.33	33	chr11	102331167	.	T	G	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.822;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.059;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr11	102350612	102350612	C	T	exonic	BIRC2	.	nonsynonymous SNV	BIRC2:NM_001166:exon2:c.C758T:p.S253F,BIRC2:NM_001256163:exon2:c.C758T:p.S253F,BIRC2:NM_001256166:exon2:c.C611T:p.S204F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00586164036829	.	.	4.96e-05	0	0.0004	0	0	0	0	6.06e-05	4.53e-05	7	154602	rs781404080	2.941e-05	2.941e-05	3.131e-05	2.75e-05	0.0004	2.216e-05	1.97e-05	0.0003	0.0002	0	0.0004	0	0	0	0.0003	1.169e-05	3.311e-05	6.956e-05	2.63e-05	2.627e-05	3.856e-05	1.346e-05	0.0003	8.15e-06	5.14e-06	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	0	0	0	0.051	0.41637	T	0.048	0.51737	D	0.595	0.39190	P	0.142	0.33681	B	0.228245	0.15980	N	0.673047	0.972895	0.26012	N	0.655	0.16177	N	1.92	0.23082	T	-1.74	0.42384	N	0.346	0.40665	-1.0708	0.09238	T	0.030	0.13067	T	10	0.09816247	0.17728	T	0.005862	0.15251	T	0.064	0.18567	.	.	0.793723814882	0.79180	0.5490953215306571	0.54835	0.0860599729481	0.09724	0.423931360245	0.28377	T	0.172189	0.52059	T	-0.395556	0.02476	T	-0.471815	0.25321	T	0.0557746316371005	0.06486	T	0.466353	0.13696	T	0.12921861	0.30187	0.144554	0.34315	0.12921861	0.30186	0.144554	0.34314	-6.051	0.46703	T	.	.	0.137	0.41341	B	.;.;.;.;.	.;.;.;.;.	3.486662	0.48718	22.7	0.99367337237888853	0.61283	0.59191	0.30847	D	AEFDBCI	.	.	.	-0.112877441583564	0.36832	2.134338	0.0409762838870992	0.41638	2.504903	0.99999513304856	0.74766	0.722319	0.85440	0	0.635938	0.57008	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	4.61	0.56724	3.281000	0.51389	4.006000	0.41118	0.599000	0.40250	0.997000	0.40164	0.996000	0.32793	0.996000	0.76049	0.0:0.8516:0.0:0.1484	10.217	0.42354	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1447.33	33	chr11	102350612	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=737;ExcessHet=0;FS=6.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.181;SOR=1.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr11	102452614	102452614	C	G	exonic	TMEM123	.	nonsynonymous SNV	TMEM123:NM_052932:exon1:c.G10C:p.G4R	.	432	1088	2	0	0	2	0.000918274	.	.	.	4081702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0304587023394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1227035475	1.497e-05	1.71e-05	1.275e-05	1.721e-05	0.0002	9.62e-06	8.16e-06	5.717e-05	4.274e-05	0	9.675e-05	0	0	0	0.0002	3.684e-06	5.198e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.087	0.40747	T	1.0	0.90584	D	0.994	0.82059	D	0.993014	0.08017	U	0.995483	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-1.43	0.35194	N	0.412	0.45237	-1.0142	0.25593	T	0.099	0.36805	T	10	0.19805297	0.35761	T	0.030459	0.52764	D	0.148	0.39182	0.589	0.71749	0.043077524339	0.03247	0.38966331831308243	0.38881	0.0413911141349	0.04440	0.778842687607	0.78753	T	0.072521	0.34474	T	-0.329065	0.06182	T	-0.436156	0.29239	T	0.147066990786031	0.16868	T	0.648035	0.25918	T	0.15677378	0.35361	0.16961692	0.39009	0.15677378	0.35361	0.16961692	0.39009	-3.238	0.12951	T	.	.	0.880	0.81476	P	.;.	.;.	2.849604	0.37622	20.5	0.97001278739414076	0.31945	0.03108	0.08043	N	ALL	0.084279	0.17079	N	-0.307616550818669	0.28858	1.595288	-0.450917922108637	0.23522	1.283223	0.999999999994126	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	1.41	0.21461	0.395000	0.20576	0.854000	0.22166	0.549000	0.26987	0.157000	0.23755	0.291000	0.24165	0.669000	0.33223	0.3984:0.4971:0.0:0.1045	4.784	0.12586	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000509	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	604.33	43	chr11	102452614	.	C	G	604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.346;DP=698;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-2.153;SOR=0.936	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1064	18	0	1	0
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L	Amelogenesis imperfecta, type IIA2, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	324470	Amelogenesis_imperfecta_hypomaturation_type_2A2|not_provided	MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.000000	0.000000	0.000000	0.015244	0.022727	0.02632	287.33	41	chr11	102611773	.	T	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=669;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.46;SOR=0.403	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	18	0	1	0
chr11	102704601	102704601	C	T	exonic	MMP27	.	nonsynonymous SNV	MMP27:NM_022122:exon2:c.G277A:p.V93M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0143127435113	7.7e-05	.	1.648e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs146002313	2.052e-05	2.052e-05	9.529e-06	3.163e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	4.042e-05	0	6.708e-05	0	0	0	0.0003	1.169e-05	4.967e-05	0.0001	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0009	0.0002	0.028	0.46129	D	0.029	0.54541	D	0.973	0.57599	D	0.587	0.50368	P	0.016846	0.27871	N	0.249666	0.999988	0.54805	D	1.905	0.50856	L	1.03	0.40469	T	-2.34	0.51811	N	0.356	0.39760	-0.9522	0.40590	T	0.126	0.43112	T	10	0.3503617	0.51909	T	0.014313	0.34341	T	0.163	0.42028	.	.	0.60311569301	0.59994	0.8136355164673617	0.81319	0.0819677405464	0.09232	0.521621465683	0.41854	T	0.100751	0.40685	T	-0.30439	0.08252	T	-0.472358	0.25262	T	0.400253623723984	0.28951	T	0.906109	0.66926	D	0.112387866	0.26550	0.13526642	0.32392	0.112387866	0.26550	0.13526642	0.32391	-5.772	0.44330	T	.	.	0.332	0.55334	B	.	.	3.134729	0.42376	21.5	0.99734044251976905	0.82975	0.92011	0.54748	D	AEFBI	0.240026	0.36188	N	0.136413918846829	0.48170	3.032662	0.117566947710128	0.45448	2.807742	0.936146473154943	0.27242	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.55	2.47	0.29113	1.987000	0.40309	3.250000	0.37021	-0.306000	0.06133	0.928000	0.32210	0.998000	0.33993	0.845000	0.39915	0.0:0.651:0.1348:0.2142	7.075	0.24378	683	0.59664	Peptidase M10A, cysteine switch, zinc binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1489.33	33	chr11	102704601	.	C	T	1489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=771;ExcessHet=0;FS=1.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.03;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	102714558	102714558	C	T	exonic	MMP8	.	stopgain	MMP8:NM_002424:exon8:c.G1188A:p.W396X,MMP8:NM_001304441:exon9:c.G1119A:p.W373X,MMP8:NM_001304442:exon9:c.G1119A:p.W373X	.	.	.	.	.	.	.	.	0.9490	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-05	0	8.929e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs756531800	8.399e-06	8.209e-06	6.039e-06	1.081e-05	0.0002	4.51e-06	3.29e-06	9.88e-05	7.619e-05	0	0	0	0	0	0	0	0	0.0002	6.591e-06	6.571e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000046	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.845	0.84090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425273	0.91292	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.597847	0.99116	42	0.99682650304152387	0.79373	0.97711	0.76584	D	AEFBI	0.720821	0.67126	D	0.852709674646128	0.89262	9.900129	0.741565436985981	0.85527	8.606864	0.908391171062602	0.26284	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	5.435000	0.66282	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.398	0.94609	703	0.57489	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1197.81	33	chr11	102714558	.	C	T	1197.81	.	AC=2;AF=0.053;AN=38;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	18	1	0	0
chr11	102715411	102715411	A	G	exonic	MMP8	.	nonsynonymous SNV	MMP8:NM_002424:exon7:c.T929C:p.L310P,MMP8:NM_001304441:exon8:c.T860C:p.L287P,MMP8:NM_001304442:exon8:c.T860C:p.L287P	.	423	1095	4	0	0	4	0.00182315	.	.	.	2809800	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0111510159455	0.0005	0.00159744	0.0018	0	0.0009	0	0	0.0007	0.0056	0.0093	0.001533	237	154602	rs61753779	0.0011	0.0011	0.0008	0.0015	0.0101	0.0011	0.0011	0.0096	0.0093	5.979e-05	0.0004	0.0049	2.522e-05	5.619e-05	0.0036	0.0005	0.0014	0.0101	0.0006	0.0006	0.0006	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.217e-05	0	0.0004	0.0029	0	0	0	0.0006	0.0028	0.0064	0.175	0.22400	T	0.191	0.28391	T	0.496	0.37079	P	0.722	0.54942	P	0.645376	0.10561	N	0.794265	0.999988	0.18198	N	2.815	0.81989	M	4.24	0.02590	T	-2.59	0.55821	D	0.55	0.57604	-1.0321	0.19777	T	0.024	0.10058	T	10	0.006801486	0.00154	T	0.011151	0.28477	T	0.140	0.37593	.	.	0.65604970179	0.65317	0.6067632084119647	0.60607	0.312383775488	0.33544	0.418269306421	0.27600	T	0.119774	0.44155	T	-0.483414	0.00707	T	-0.459205	0.26686	T	0.0941938403619504	0.11705	T	0.231377	0.03133	T	0.35558328	0.57498	0.3585015	0.61325	0.35558328	0.57498	0.3585015	0.61324	-9.605	0.71510	D	.	.	0.613	0.69403	P	.	.	2.116028	0.26930	17.29	0.98748744524801779	0.45618	0.08775	0.14654	N	AEFGBI	0.136410	0.25707	N	-0.210869398859929	0.32688	1.846145	-0.391234213462376	0.25256	1.387895	8.96620670391953E-4	0.07974	0.569682	0.32691	0	0.59043	0.45803	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	5.47	2.99	0.33673	0.659000	0.24677	2.949000	0.35703	0.756000	0.94297	0.000000	0.06391	0.005000	0.19230	0.463000	0.28185	0.5081:0.0:0.0:0.4919	9.654	0.39078	723	0.55174	Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	918.33	34	chr11	102715411	.	A	G	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.761;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	18	0	1	0
chr11	102721703	102721703	G	T	exonic	MMP8	.	nonsynonymous SNV	MMP8:NM_002424:exon3:c.C407A:p.A136D,MMP8:NM_001304441:exon4:c.C338A:p.A113D,MMP8:NM_001304442:exon4:c.C338A:p.A113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.0806171536836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753271060	4.105e-06	4.104e-06	4.085e-06	4.126e-06	2.239e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.239e-05	0	0	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	1	0.81001	D	4.31	0.98302	H	0.96	0.42888	T	-5.86	0.88561	D	0.905	0.90590	0.757	0.93876	D	0.718	0.90324	D	10	0.99108595	0.99627	D	0.080617	0.73501	D	0.588	0.83526	0.933	0.98990	0.649768434623	0.64686	0.8849216068715038	0.88461	0.326156800861	0.34764	0.514827013016	0.40898	T	0.395331	0.75424	T	0.205791	0.74434	D	0.140694	0.79589	D	0.999506115913391	0.97675	D	0.917708	0.70434	D	0.9887394	0.99697	0.9614993	0.99051	0.9887394	0.99697	0.9614993	0.99052	-13.398	0.90936	D	.	.	0.963	0.88480	P	.	.	3.825871	0.55270	23.6	0.99701290500080231	0.80660	0.96946	0.71809	D	AEFGBHCI	0.898581	0.84203	D	0.577686852084107	0.71784	5.703778	0.506628557204648	0.68434	5.219652	0.999999999997464	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	6.212000	0.72128	7.549000	0.60236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	19.323	0.94236	707	0.57054	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	984.33	37	chr11	102721703	.	G	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.134;DP=806;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.65;SOR=0.399	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,101,1443	18	0	1	0
chr11	102772873	102772873	G	T	exonic	MMP10	.	stopgain	MMP10:NM_002425:exon8:c.C1200A:p.Y400X	.	420	1099	3	0	0	3	0.00136302	.	.	.	1306586	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00139776	0.0024	0.0006	0.0008	0	0.0006	0.0041	0	0.0003	0.0024709	382	154602	rs147267769	0.0039	0.0039	0.0040	0.0038	0.0048	0.0038	0.0038	0.0047	0.0046	0.0006	0.0008	0.0001	0	0.0008	0.0038	0.0048	0.0033	0.0002	0.0024	0.0024	0.0024	0.0025	0.0046	0.0022	0.0022	0.0042	0.0040	0.0007	0	0.0012	0	0	0.0004	0	0.0046	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.010946	0.29719	N	0.158589	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.709	0.71232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234596	0.77153	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.896029	0.96968	36	0.99371853889774431	0.61498	0.92195	0.55157	D	AEFBI	0.396335	0.47285	N	0.30913873109418	0.56615	3.826648	0.0581865038687064	0.42468	2.569272	9.18596192498251E-5	0.04910	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.46	0.46	0.15895	0.030000	0.13576	0.981000	0.23125	0.672000	0.70159	0.136000	0.23442	0.325000	0.24344	0.901000	0.43729	0.3586:0.0:0.6414:0.0	10.683	0.45024	768	0.49510	Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	966.33	34	chr11	102772873	.	G	T	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.484;DP=767;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.04;SOR=0.858	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr11	104887276	104887276	C	T	exonic	CASP12	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	3199217	CASP12-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0362342575953	.	0.000798722	0.0001	0.0018	0	0	0	0	0	0.0001	8.41e-05	13	154602	rs146027803	0.0001	0.0001	0.0001	9.376e-05	0.0037	0.0001	9.472e-05	0.0031	0.0029	0.0037	0.0004	0	0.0001	0	0	9.381e-07	0.0004	3.956e-05	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999464	0.81001	D	.	.	.	.	.	.	.	.	.	0.747	0.74644	-0.2922	0.75204	T	0.268	0.63960	T	10	0.033200294	0.01490	T	0.036234	0.56862	D	0.300	0.62068	.	.	0.0666544352282	0.05500	.	.	0.149884323032	0.16908	0.437442570925	0.30228	T	.	.	.	-0.130182	0.31467	T	0.0414553	0.73022	D	0.199674361160327	0.20398	T	0.940606	0.77652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32851	B	.	.	2.929478	0.38917	20.8	0.99626865327597536	0.75776	0.48195	0.28152	N	AEFI	0.421860	0.48810	N	0.1011501266012	0.46517	2.890801	-0.0387076077146675	0.37982	2.231443	0.987469915027173	0.31271	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.31	4.31	0.50718	3.094000	0.49919	4.589000	0.43950	0.599000	0.40250	0.166000	0.23880	0.976000	0.30059	0.011000	0.09372	0.0:1.0:0.0:0.0	14.664	0.68504	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1176.33	33	chr11	104887276	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.587;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	18	0	1	0
chr11	104897371	104897371	C	T	exonic	CASP12	.	unknown	UNKNOWN	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs555367	0.0010	0.0009	0.0011	0.0009	0.0318	0.0009	0.0009	0.0302	0.0295	0.0318	0.0027	0	0	0	0.0012	8.349e-05	0.0027	8.854e-05	0.0093	0.0093	0.0093	0.0092	0.0318	0.0089	0.0087	0.0304	0.0298	0.0318	0	0.0046	0	0	0	0	7.351e-05	0.0066	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2066.33	33	chr11	104897371	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.466;DP=814;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.811;SOR=0.468	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1363	18	0	1	0
chr11	104954915	104954915	G	C	exonic	CASP4	.	nonsynonymous SNV	CASP4:NM_001225:exon2:c.C94G:p.Q32E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00193032320399	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs777635897	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.583e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.28	0.35726	T	0.198	0.27767	T	0.001	0.07471	B	0.01	0.14941	B	0.171206	0.17369	N	0.610998	1	0.08975	N	0.69	0.16971	N	2.14	0.19450	T	-0.04	0.07590	N	0.105	0.08925	-1.0188	0.24106	T	0.028	0.11926	T	10	0.052387625	0.05265	T	0.00193	0.03430	T	0.016	0.02506	0.3	0.26683	0.227260227426	0.22338	0.19389305298959106	0.19307	0.0776255776379	0.08728	0.343820661306	0.17008	T	0.045358	0.27099	T	-0.258825	0.13037	T	-0.609561	0.12020	T	0.171449035406113	0.18678	T	0.177182	0.11480	T	0.0794932	0.18164	0.059454773	0.11160	0.0794932	0.18163	0.059454773	0.11160	-2.761	0.07830	T	.	.	0.067	0.04889	B	.;.	.;.	0.329184	0.07030	3.595	0.32873160715954791	0.01928	0.02517	0.07017	N	AEFGBI	0.059444	0.11227	N	-1.27456846355087	0.03984	0.1790058	-1.30404470978923	0.04378	0.2063447	0.219587335745802	0.18340	0.706298	0.61202	0	0.688494	0.66719	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.6	1.22	0.20300	0.524000	0.22648	2.973000	0.35807	-0.258000	0.06954	0.006000	0.17386	0.576000	0.25597	0.016000	0.10718	0.0:0.1112:0.202:0.6868	4.849	0.12890	894	0.26265	CARD domain|CARD domain|CARD domain;CARD domain|CARD domain|CARD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	36	chr11	104954915	.	G	C	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=799;ExcessHet=0;FS=1.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.139;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	18	0	1	0
chr11	105008960	105008961	TT	-	exonic	CASP5	.	frameshift deletion	CASP5:NM_001136112:exon2:c.66_67del:p.R23Afs*2,CASP5:NM_004347:exon2:c.27_28del:p.R10Afs*2	.	434	843	218	1	26	246	0.115425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0.0006	0.000705	109	154602	rs775201874	2.916e-05	0.0010	1.494e-05	4.349e-05	0.0003	2.117e-05	1.874e-05	0.0002	0.0002	0	2.82e-05	0	0	4.564e-05	0	1.092e-05	2.036e-05	0.0003	0	9.999e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.47	84	chr11	105008959	.	CTT	C	144.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=985;ExcessHet=0.3672;FS=0.821;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.097;SOR=0.566	GT:AD:DP:GQ:PL	0/1:56,7:66:90:90,0,1964	18	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	G	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,26:134:15:0|1:106010659_C_G:15,0,3444:106010659	7	0	5	7
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	T	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:108,0:134:15:0|1:106010659_C_G:15,337,3853:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,26:134:15:0|1:106010659_C_G:15,0,3444:106010659	1	0	10	8
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1642.33	203	chr11	106010663	.	C	G	1642.33	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-4.095;DP=2463;ExcessHet=0.3672;FS=251.882;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.04;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	8	0	3	8
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1643.52	203	chr11	106010664	.	A	G	1643.52	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.742;DP=2434;ExcessHet=0.3672;FS=249.098;InbreedingCoeff=-0.2683;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.14;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	6	0	3	10
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	39.95	187	chr11	106010666	.	C	G	39.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.524;DP=2221;ExcessHet=0;FS=51.273;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.81;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:91,0:91:86:.:.:0,86,2480:.	5	0	1	13
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	35.48	44	chr11	106010667	.	C	G	35.48	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.13;DP=1884;ExcessHet=0;FS=51.273;InbreedingCoeff=-0.1586;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.83;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575:.	10	0	1	8
chr11	106054142	106054142	A	C	exonic	KBTBD3	.	nonsynonymous SNV	KBTBD3:NM_001330359:exon3:c.T310G:p.L104V,KBTBD3:NM_152433:exon3:c.T547G:p.L183V,KBTBD3:NM_198439:exon4:c.T547G:p.L183V	.	441	1075	6	0	0	6	0.00278293	.	.	.	3272178	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0397538975148	0.0002	0.000199681	0.0003	0	0.0008	0	0	0.0002	0	0.0006	0.0002199	34	154602	rs138578492	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0005	7.659e-05	0	0	0.0017	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0002	0.0006	8.658e-05	7.251e-05	0.0002	8.989e-05	0.0002	0	0	0	0	0	0	0.0001	0	0.0006	0.164	0.23360	T	0.191	0.31427	T	.	.	.	.	.	.	0.011081	0.29665	N	0.351372	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.45	0.03191	N	0.371	0.52829	-0.8424	0.52486	T	0.186	0.53526	T	10	0.048363566	0.04276	T	0.039754	0.58991	D	0.112	0.31546	.	.	0.581788271231	0.57850	0.19960741259531312	0.19877	0.18827095744	0.21156	0.558083176613	0.46996	T	.	.	.	-0.321387	0.06785	T	-0.341942	0.40125	T	0.0172024555853503	0.00463	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02065	B	.;.;.	.;.;.	0.862815	0.12354	8.891	0.80704294782379948	0.13329	0.65886	0.32889	D	AEI	0.122978	0.23837	N	-0.728637916359737	0.15220	0.7651369	-0.674978886877872	0.17588	0.9358457	3.44076391546184E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	-2.29	0.06419	0.609000	0.23935	0.867000	0.22280	-0.562000	0.04833	0.994000	0.38300	0.976000	0.30059	0.975000	0.56047	0.5717:0.0:0.4283:0.0	14.067	0.64357	748	0.52143	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	862.33	40	chr11	106054142	.	A	C	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=765;ExcessHet=0;FS=2.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.32;SOR=1.138	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	107348964	107348966	CAA	-	exonic	CWF19L2	.	nonframeshift deletion	CWF19L2:NM_152434:exon14:c.2173_2175del:p.L725del	.	435	1037	49	1	0	51	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.00459265	0.0049	0.0007	0.0025	0	0.0002	0.0037	0.0078	0.0191	0.000461	12	26028	rs368279169	0.0030	0.0030	0.0023	0.0036	0.0209	0.0029	0.0029	0.0184	0.0180	0.0005	0.0022	0.0169	2.532e-05	7.507e-05	0.0209	0.0016	0.0042	0.0191	0.0025	0.0025	0.0022	0.0029	0.0197	0.0023	0.0022	0.0165	0.0153	0.0004	0	0.0019	0.0216	0	9.429e-05	0.0170	0.0022	0.0066	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011078	0.005051	0.014946	0.000000	0.000000	0.017241	0.012195	0.018939	0.02632	1560.29	75	chr11	107348963	.	CCAA	C	1560.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.501;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=0.643;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1173	18	0	1	0
chr11	107439126	107439126	G	T	exonic	CWF19L2	.	nonsynonymous SNV	CWF19L2:NM_152434:exon6:c.C628A:p.P210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0066	0.00658946	0.0021	0.0226	0.0012	0	0	0	0.0024	6.894e-05	0.001824	282	154602	rs608634	0.0006	0.0006	0.0007	0.0005	0.0208	0.0005	0.0005	0.0196	0.0190	0.0208	0.0009	0	0	0	0.0005	6.316e-06	0.0014	0.0001	0.0052	0.0052	0.0053	0.0051	0.0180	0.0049	0.0048	0.0169	0.0165	0.0180	0	0.0025	0	0	0	0	0	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999863	0.50061	D	2.965	0.85198	M	2.01	0.21291	T	-4.78	0.80510	D	0.628	0.64223	-0.8311	0.53231	T	0.104	0.38316	T	10	0.008489549	0.00192	T	.	.	.	0.399	0.71321	.	.	0.540835050783	0.53735	0.3401947053512284	0.33932	0.117737145212	0.13261	0.533866941929	0.43580	T	0.069748	0.33786	T	-0.31253	0.07527	T	-0.204785	0.54193	T	0.0607051904911149	0.07279	T	0.941006	0.77964	D	0.7571886	0.81288	0.6281088	0.78313	0.7571886	0.81289	0.6281088	0.78314	-9.898	0.73298	D	.	.	0.736	0.74447	P	.	.	4.624411	0.73463	26.0	0.99748428553001867	0.84077	0.98668	0.85355	D	AEFBI	0.804119	0.72907	D	0.937852763014062	0.93487	12.07199	0.894057597333644	0.95310	13.50061	0.997267986236029	0.35436	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.75	5.75	0.90390	7.628000	0.82379	11.286000	0.91899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	18.945	0.92591	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	425.33	30	chr11	107439126	.	G	T	425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.706;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.717;SOR=0.784	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1059	18	0	1	0
chr11	107504833	107504833	G	C	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001378133:exon11:c.C1670G:p.P557R,ALKBH8:NM_001301010:exon12:c.C1820G:p.P607R,ALKBH8:NM_138775:exon12:c.C1820G:p.P607R	.	428	1093	1	0	0	1	0.000457247	.	.	.	737710	Intellectual_developmental_disorder,_autosomal_recessive_71|not_provided	MONDO:MONDO:0032789,MedGen:C5193133,OMIM:618504|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00399361	0.0009	0	0	0.0224	0	0.0001	0	0.0005	0.0003234	50	154602	rs150879765	0.0009	0.0009	0.0009	0.0009	0.0332	0.0009	0.0009	0.0316	0.0310	0	8.405e-05	0	0.0332	0	0	1.576e-05	0.0013	0.0002	0.0010	0.0010	0.0008	0.0013	0.0280	0.0009	0.0008	0.0243	0.0228	0	0	6.543e-05	0	0.0280	0	0	4.41e-05	0.0005	0.0012	0.649	0.04864	T	0.542	0.09690	T	0.0	0.02946	B	0.001	0.04355	B	0.794776	0.06733	N	1.100310	1	0.08975	N	2.08	0.57402	M	1.08	0.39401	T	0.43	0.03297	N	0.072	0.04547	-1.0129	0.26007	T	0.037	0.15899	T	10	0.0026815236	0.00041	T	.	.	.	0.089	0.25827	.	.	0.166414681773	0.16258	0.2570011457225253	0.25614	0.00990482435989	0.00904	0.249365627766	0.03701	T	0.032151	0.22361	T	-0.595076	0.00156	T	-0.605249	0.12374	T	0.00990320986297665	0.00131	T	0.336266	0.07184	T	0.024337174	0.01255	0.046268363	0.06409	0.024337174	0.01255	0.046268363	0.06409	-5.318	0.40852	T	.	.	0.076	0.06341	B	.;.;.	.;.;.	0.954302	0.13308	9.808	0.60204080316671071	0.06407	0.05346	0.11203	N	AEFBI	0.071759	0.14298	N	-0.656607121824296	0.17268	0.8871263	-0.647277780130187	0.18285	0.9761525	1.4697993706358E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.37	2.13	0.26445	-0.395000	0.07347	-1.415000	0.05493	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.1632:0.2144:0.5092:0.1132	3.542	0.07369	712	0.56465	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	988.33	33	chr11	107504833	.	G	C	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.766;DP=733;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.484;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chr11	107806792	107806792	C	T	exonic	SLC35F2	.	nonsynonymous SNV	SLC35F2:NM_017515:exon4:c.G499A:p.A167T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0463680383361	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752339050	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0003	1.048e-05	8.75e-06	6.094e-05	2.522e-05	0	0	0	5.038e-05	0	0.0003	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	0.996861	0.43468	D	2.93	0.84523	M	-0.35	0.68616	T	-2.66	0.56945	D	0.777	0.77978	-0.0391	0.81437	T	0.450	0.78449	T	10	0.91639817	0.91000	D	0.046368	0.62424	D	0.481	0.77142	0.808	0.92512	0.721310929208	0.71885	0.850495081082887	0.85011	0.598160458821	0.54985	0.625774741173	0.56546	T	0.331865	0.70189	T	0.0997797	0.64267	D	0.131252	0.78975	D	0.912651896476746	0.56864	D	0.920308	0.75104	D	0.85403275	0.87635	0.8163648	0.89307	0.85403275	0.87636	0.8163648	0.89307	-12.381	0.86657	D	.	.	0.927	0.84746	P	.;.;.	.;.;.	4.510870	0.70634	25.6	0.99782295065395799	0.86867	0.95160	0.63658	D	AEFBI	0.511081	0.53986	D	0.274355395249779	0.54851	3.649943	0.115455441614459	0.45338	2.798776	0.0549879949343988	0.14997	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.86	3.94	0.44807	4.396000	0.59445	4.691000	0.44365	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.1473:0.8526:0.0:0.0	14.540	0.67572	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1381.33	46	chr11	107806792	.	C	T	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=893;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.146;SOR=0.93	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr11	108172504	108172504	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon13:c.C2480T:p.T827I,NPAT:NM_002519:exon13:c.C2480T:p.T827I	.	.	.	.	.	.	.	.	.	.	.	3129140	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00610139723531	8.3e-05	.	6.628e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs372594394	4.446e-05	4.446e-05	4.492e-05	4.4e-05	0.0007	3.575e-05	3.257e-05	0.0002	0.0001	2.987e-05	8.944e-05	0	0	0	0.0007	4.407e-05	9.935e-05	1.159e-05	8.542e-05	8.537e-05	0.0001	5.381e-05	0.0001	4.957e-05	3.963e-05	6.803e-05	5.086e-05	2.414e-05	0	6.545e-05	0	0	0	0	0.0001	0.0010	0	0.192	0.20988	T	0.443	0.13215	T	0.001	0.07471	B	0.002	0.06944	B	0.183539	0.17038	N	0.613452	1	0.08975	N	1.39	0.34934	L	3.73	0.03982	T	-1.85	0.43334	N	0.03	0.00717	-0.9330	0.43695	T	0.010	0.03627	T	10	0.05923292	0.07087	T	0.006101	0.15964	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.15779161136333986	0.15700	0.0509365600502	0.05596	0.277303516865	0.07119	T	0.06197	0.31793	T	-0.534167	0.00363	T	-0.779369	0.02472	T	0.0280128801091082	0.01690	T	0.564644	0.19916	T	0.0345475	0.03897	0.061849784	0.12010	0.0345475	0.03897	0.061849784	0.12010	-3.513	0.16614	T	.	.	0.081	0.08224	B	.	.	0.841434	0.12131	8.682	0.090111767880096394	0.00083	0.07502	0.13517	N	AEFGBI	0.041086	0.06198	N	-0.8344268324473	0.12436	0.6061902	-0.803169119311432	0.14420	0.7532847	0.0137454255298195	0.12505	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.83	2.53	0.29594	0.295000	0.18821	1.803000	0.28899	0.676000	0.76740	0.000000	0.06391	0.048000	0.21764	0.288000	0.24212	0.2807:0.0:0.5913:0.128	6.353	0.20588	115	0.95340	Protein NPAT, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2189.33	33	chr11	108172504	.	G	A	2189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=772;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.145;SOR=0.84	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1375	18	0	1	0
chr11	108173026	108173026	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon13:c.C1958T:p.A653V,NPAT:NM_002519:exon13:c.C1958T:p.A653V	.	.	.	.	.	.	.	.	.	.	.	2467820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00401281595849	.	.	8.361e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs755872803	2.737e-06	2.736e-06	2.723e-06	2.751e-06	1.159e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.31	0.19721	T	0.009	0.15093	B	0.008	0.13708	B	0.117743	0.19140	N	0.555490	1	0.08975	N	0	0.06538	N	3.75	0.03922	T	-0.31	0.12099	N	0.033	0.00882	-0.9399	0.42632	T	0.009	0.03054	T	10	0.03440264	0.01648	T	0.004013	0.09525	T	0.083	0.24192	0.056	0.00156	0.156986980423	0.15292	0.1386597472910516	0.13788	0.0477508610535	0.05213	0.23365816474	0.02249	T	0.029604	0.21175	T	-0.400756	0.02289	T	-0.71658	0.04963	T	0.0717512822366278	0.08895	T	0.439856	0.12136	T	0.038734376	0.05218	0.06127249	0.11804	0.038734376	0.05218	0.06127249	0.11804	-2.72	0.07472	T	.	.	0.072	0.04238	B	.	.	1.648625	0.21035	15.02	0.99196661606674452	0.55142	0.13603	0.17949	N	AEFBI	0.044114	0.07058	N	-0.670068978830661	0.16878	0.8637917	-0.553675797420846	0.20709	1.116946	0.0245109711893673	0.13583	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.08	4.22	0.49153	1.449000	0.34734	2.534000	0.33182	0.676000	0.76740	0.003000	0.16062	0.084000	0.22431	0.896000	0.43308	0.2403:0.0:0.7597:0.0	8.992	0.35189	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	33	chr11	108173026	.	G	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.229;DP=808;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.584;SOR=0.52	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1375	18	0	1	0
chr11	108244862	108244862	A	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon7:c.A737G:p.N246S,ATM:NM_001351834:exon8:c.A737G:p.N246S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	.	.	.	.	.	.	.	.	.	YES	525631	Familial_cancer_of_breast|not_provided|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.073393988328	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781023264	6.842e-06	6.84e-06	6.807e-06	6.877e-06	2.523e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.523e-05	0	0	7.195e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53172	D	0.079	0.49120	T	0.95	0.53885	P	0.542	0.48916	P	0.000000	0.84330	D	0.000000	0.965816	0.38491	D	2.42	0.70002	M	4.32	0.02387	T	-2.28	0.50830	N	0.759	0.76666	-1.0624	0.11166	T	0.017	0.07187	T	10	0.40145308	0.55596	T	0.073394	0.71777	D	0.191	0.46948	0.487	0.57098	0.972047490015	0.97174	0.4129519829091547	0.41211	0.441542982226	0.44134	0.430950969458	0.29338	T	0.164859	0.51048	T	-0.273567	0.11363	T	-0.533883	0.18901	T	0.883011817932129	0.53316	D	0.728327	0.35417	T	0.36955255	0.58552	0.23654792	0.48929	0.36955255	0.58553	0.23654792	0.48928	-3.262	0.13252	T	0.29735565993254826	0.39446	0.124	0.25946	B	.;.;.	.;.;.	3.614779	0.51120	23.0	0.99848451393999682	0.92838	0.98091	0.79521	D	AEFGBI	0.684579	0.64688	D	0.56724337511961	0.71138	5.605589	0.60794517947387	0.75518	6.324362	0.999991246305751	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.53	5.53	0.82530	6.687000	0.74383	6.063000	0.53189	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.954	0.79654	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	35	chr11	108244862	.	A	G	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.959;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.27;SOR=0.681	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1400	18	0	1	0
chr11	108271261	108271261	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon20:c.T2932C:p.S978P,ATM:NM_001351834:exon21:c.T2932C:p.S978P	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	2	1502	18	0	0	18	0.00595632	.	.	YES	132819	Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|ATM-related_cancer_predisposition|Ataxia-telangiectasia_syndrome|not_provided|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0700270,MedGen:CN377759|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:C3661900|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.874	0.439558008784	0.0003	0.000599042	0.0012	0.0002	0.0003	0	0	0.0007	0.0022	0.0057	0.0011125	172	154602	rs139552233	0.0008	0.0008	0.0007	0.0009	0.0050	0.0008	0.0008	0.0046	0.0044	0.0002	0.0002	7.654e-05	0	0	0.0017	0.0006	0.0012	0.0050	0.0004	0.0004	0.0004	0.0005	0.0035	0.0004	0.0003	0.0022	0.0018	7.221e-05	0	0.0003	0	0	0	0	0.0006	0.0019	0.0035	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.102849	0.998516	0.45021	D	2.83	0.82355	M	-0.81	0.73949	T	-2.69	0.58248	D	0.943	0.95021	0.201	0.85916	D	0.569	0.84368	D	10	0.03129506	0.01263	T	0.439558	0.94138	D	0.874	0.96243	.	.	0.948311976186	0.94776	0.6075241820053727	0.60684	0.523745419462	0.50081	0.40658468008	0.25985	T	0.158256	0.50120	T	0.0625134	0.59927	T	0.317973	0.89005	D	0.120116724385006	0.14441	T	0.79772	0.55771	T	0.7786302	0.82570	0.6004758	0.76789	0.81016994	0.84566	0.6295642	0.78395	-5.935	0.45733	T	0.3684974576213956	0.46427	0.650	0.70913	P	.;.;.	.;.;.	4.471605	0.69679	25.4	0.99890320250132414	0.96436	0.98765	0.86563	D	AEFBI	0.805720	0.73023	D	0.739625117531926	0.82229	7.711089	0.719132624524002	0.83831	8.126331	0.990771903259458	0.32265	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	6.399000	0.73172	6.095000	0.53488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.892	0.79091	144	0.94257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.05263	4018.83	48	chr11	108271261	.	T	C	4018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=1009;ExcessHet=0.119;FS=1.857;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.59;SOR=0.812	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	17	0	2	0
chr11	108512066	108512066	C	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.G2877T:p.M959I,EXPH5:NM_001144764:exon4:c.G2973T:p.M991I,EXPH5:NM_001144763:exon6:c.G3213T:p.M1071I,EXPH5:NM_015065:exon6:c.G3441T:p.M1147I,EXPH5:NM_001308019:exon7:c.G3420T:p.M1140I	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	433	1079	9	1	0	11	0.00507146	.	.	.	701549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00356705609164	0.0042	0.00319489	0.0044	0.0014	0.0010	0.0005	0.0011	0.0061	0.0011	0.0057	0.0044049	681	154602	rs34012545	0.0058	0.0058	0.0057	0.0058	0.0066	0.0057	0.0056	0.0065	0.0064	0.0011	0.0012	0.0068	5.04e-05	0.0013	0.0009	0.0066	0.0046	0.0053	0.0040	0.0040	0.0041	0.0039	0.0066	0.0037	0.0036	0.0061	0.0059	0.0015	0	0.0022	0.0037	0	0.0014	0.0034	0.0066	0.0033	0.0048	0.436	0.09374	T	0.306	0.19972	T	.	.	.	.	.	.	0.367039	0.13584	N	0.702507	1	0.08975	N	.	.	.	4.39	0.03836	T	-0.47	0.16393	N	0.04	0.03613	-0.9843	0.33998	T	0.004	0.01470	T	10	0.0038924813	0.00074	T	0.003567	0.08154	T	0.029	0.06676	0.154	0.05752	0.115124310173	0.11017	0.0948001730633443	0.09412	0.0431053341588	0.04645	0.230860114098	0.02032	T	0.017766	0.14435	T	-0.667682	0.00057	T	-0.726587	0.04483	T	0.00373458209670396	0.00040	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.36495	B	.;.;.;.	.;.;.;.	-2.261242	0.00056	0.001	0.61618362058428144	0.06754	0.01714	0.05438	N	AEFDGBIJ	0.085099	0.17251	N	-1.89915804497989	0.00345	0.01480627	-2.00668450028868	0.00297	0.01309371	0.999999999857309	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	-11.5	0.00057	-2.639000	0.00938	-2.204000	0.04061	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.5143:0.0:0.2895	8.088	0.29948	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	4409.81	33	chr11	108512066	.	C	A	4409.81	.	AC=2;AF=0.053;AN=38;DP=1271;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.18;SOR=1.196	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	18	1	0	0
chr11	110264171	110264171	G	C	exonic	RDX	.	nonsynonymous SNV	RDX:NM_001260496:exon4:c.C160G:p.P54A,RDX:NM_001260492:exon5:c.C256G:p.P86A,RDX:NM_001260493:exon5:c.C256G:p.P86A,RDX:NM_002906:exon5:c.C256G:p.P86A	Deafness, autosomal recessive 24, Autosomal recessive	51	1470	1	0	0	1	0.00034002	.	.	.	229961	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.802	0.108871894401	7.7e-05	.	0.0002	0	0	0	0	1.531e-05	0.0056	0.0008	0.0001229	19	154602	rs376418131	7.814e-05	7.798e-05	6.549e-05	9.091e-05	0.0008	6.613e-05	6.154e-05	0.0006	0.0006	0	0	0	2.521e-05	1.872e-05	0.0002	2.524e-05	0.0002	0.0008	5.914e-05	5.91e-05	5.14e-05	6.724e-05	0.0008	3.078e-05	2.21e-05	0.0003	0.0002	2.413e-05	0	0	0	0	9.422e-05	0	4.41e-05	0	0.0008	0.014	0.55530	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.25	0.89816	M	-1.28	0.79376	T	-7.84	0.96269	D	0.79	0.81261	0.611	0.92038	D	0.723	0.90503	D	10	0.83531547	0.82688	D	0.108872	0.78560	D	0.802	0.93543	.	.	0.767897934036	0.76577	0.5342141351240893	0.53346	0.675510407272	0.59710	0.793737351894	0.81010	T	0.805994	0.95101	D	0.121261	0.66497	D	0.300569	0.88223	D	0.766444027423859	0.44228	D	0.977102	0.91996	D	0.62857896	0.74223	0.72670054	0.83856	0.62857896	0.74224	0.72670054	0.83857	-9.619	0.71784	D	.	.	0.894	0.90447	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.104063	0.85296	28.6	0.99474566239293039	0.66525	0.99329	0.94577	D	AEFGBI	0.892836	0.83018	D	0.951893746842575	0.94060	12.47273	0.892350233696143	0.95230	13.42897	0.999999994156317	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.634	0.91327	770	0.49152	.;.;.;.;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1284.33	36	chr11	110264171	.	G	C	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.539;DP=777;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=1.94;SOR=0.931	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,107,1446	18	0	1	0
chr11	111786083	111786083	C	T	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352415:exon16:c.G1330A:p.A444T,ALG9:NM_001352416:exon16:c.G1330A:p.A444T,ALG9:NM_001352417:exon16:c.G1843A:p.A615T,ALG9:NM_001352419:exon16:c.G1351A:p.A451T	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	867038	ALG9_congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	.	0.0030	0	0	9.7e-05	15	154602	rs781928817	0.0005	0.0003	0.0004	0.0005	0.0005	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0.0072	0	0	0.0004	0.0002	0.0008	8.353e-05	0.0007	0.0007	0.0006	0.0009	0.0032	0.0006	0.0006	0.0025	0.0022	2.412e-05	0	0.0032	0.0112	0	0	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1557.33	149	chr11	111786083	.	C	T	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.462;DP=765;ExcessHet=0;FS=4.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.869;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1331	18	0	1	0
chr11	112017874	112017874	G	A	exonic	DIXDC1	.	nonsynonymous SNV	DIXDC1:NM_033425:exon15:c.G1327A:p.V443I,DIXDC1:NM_001037954:exon19:c.G1960A:p.V654I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00431558143548	.	0.000199681	9.462e-05	0	0	0	0	0	0	0.0007	6.47e-05	10	154602	rs587769234	3.091e-05	3.215e-05	1.912e-05	4.284e-05	0.0005	2.357e-05	2.103e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.017	0.60337	D	0.243	0.30970	B	0.185	0.36047	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.609	0.66529	-0.6915	0.60838	T	0.234	0.60112	T	9	0.2568024	0.43089	T	0.004316	0.10467	T	0.168	0.42943	0.682	0.81982	0.688942496604	0.68627	0.5773526304452289	0.57664	0.25699461761	0.28266	0.602541089058	0.53263	T	0.04248	0.26197	T	-0.176572	0.24246	T	-0.150861	0.59167	T	0.829952478408813	0.48527	D	0.965803	0.89869	D	0.54639184	0.69754	0.24386263	0.49839	0.54639184	0.69755	0.24386263	0.49838	-9.587	0.73136	D	.	.	0.192	0.56914	B	.;.	.;.	3.935216	0.57545	23.9	0.99749744387632744	0.84152	0.71442	0.35015	D	AEFDGBHCI	0.857697	0.77510	D	0.454709198708963	0.64470	4.702392	0.546643631520133	0.71165	5.61334	1.0	0.98316	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.591603	0.36755	0	.	.	5.12	5.12	0.69459	9.455000	0.96786	11.863000	0.98373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.514	0.90880	609	0.67094	DIX domain|DIX domain|DIX domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	35	chr11	112017874	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=732;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.28;SOR=0.502	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr11	112193881	112193881	A	G	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256400:exon3:c.A205G:p.M69V,BCO2:NM_001037290:exon4:c.A418G:p.M140V,BCO2:NM_001256397:exon4:c.A418G:p.M140V,BCO2:NM_031938:exon4:c.A520G:p.M174V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0654580364519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301522322	6.916e-07	6.841e-07	1.379e-06	0	9.112e-07	0	0	.	.	0	0	0	0	0	0	9.112e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.02093	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.041288	0.23965	N	0.491767	1	0.81001	D	0.425	0.12573	N	-3.48	0.94584	D	-0.56	0.17003	N	0.071	0.04790	-0.4991	0.68682	T	0.579	0.84822	D	10	0.077631086	0.12276	T	0.065458	0.69586	D	0.266	0.57999	0.373	0.38503	0.555555669293	0.55214	0.5402292128093866	0.53947	0.0618181164956	0.06886	0.329353123903	0.14835	T	0.34268	0.71143	T	0.00728574	0.52655	T	-0.227311	0.52032	T	0.0825960049931888	0.10316	T	0.428957	0.11607	T	0.13419414	0.31186	0.1464422	0.34693	0.13419414	0.31186	0.1464422	0.34692	-4.108	0.25408	T	.	.	0.057	0.00904	B	.;.;.;.;.	.;.;.;.;.	0.957981	0.13342	9.847	0.85479479085665122	0.15919	0.52081	0.29047	D	AEFGI	0.614827	0.60200	D	-0.581348606347515	0.19511	1.021755	-0.397011857076371	0.25085	1.377497	0.0370456243848422	0.14276	0.553676	0.25195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	1.258000	0.32547	1.103000	0.24087	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.995000	0.73285	0.7298:0.2702:0.0:0.0	11.383	0.49009	701	0.57775	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	39	chr11	112193881	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=810;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.112;SOR=0.501	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D,BCO2:NM_001256400:exon9:c.G1070A:p.G357D,BCO2:NM_001037290:exon10:c.G1283A:p.G428D,BCO2:NM_001256397:exon10:c.G1283A:p.G428D,BCO2:NM_031938:exon10:c.G1385A:p.G462D	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.000000	0.000000	0.008621	0.018293	0.022727	0.02632	1815.33	34	chr11	112214814	.	G	A	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=786;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.267;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr11	113232283	113232283	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_000615:exon10:c.G1324A:p.G442S,NCAM1:NM_001076682:exon10:c.G1324A:p.G442S,NCAM1:NM_001242608:exon10:c.G1324A:p.G442S,NCAM1:NM_181351:exon11:c.G1354A:p.G452S,NCAM1:NM_001242607:exon12:c.G1432A:p.G478S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.181972619056	.	.	1.661e-05	0	0	0	0	0	0	0.0001	.	.	.	rs782757269	1.368e-06	1.368e-06	2.723e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.889	0.88798	0.374	0.88712	D	0.669	0.88531	D	9	0.853716	0.84559	D	0.181973	0.85590	D	0.649	0.86736	0.687	0.82462	0.677418771477	0.67467	0.6538383329578891	0.65319	.	.	0.765150904655	0.76698	T	0.329049	0.80451	T	0.374653	0.88362	D	0.300386	0.88215	D	0.964097559452057	0.66854	D	0.953205	0.84924	D	0.75224227	0.80999	0.6147004	0.77574	0.75224227	0.81000	0.6147004	0.77575	-5.792	0.51803	T	.	.	0.173	0.51480	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.618538	0.92587	32	0.99900772497254253	0.97275	0.99215	0.92929	D	AEFDBI	0.971715	0.99372	D	0.785433886212589	0.85186	8.501683	0.775838553930672	0.88070	9.445536	0.999999999999999	0.74766	0.626454	0.40138	0	0.573888	0.26702	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	9.917000	0.98722	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	20.279	0.98503	649	0.63102	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1554.33	33	chr11	113232283	.	G	A	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.835;DP=767;ExcessHet=0;FS=4.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.76;SOR=0.549	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1240	18	0	1	0
chr11	113232347	113232347	A	C	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_000615:exon10:c.A1388C:p.Y463S,NCAM1:NM_001076682:exon10:c.A1388C:p.Y463S,NCAM1:NM_001242608:exon10:c.A1388C:p.Y463S,NCAM1:NM_181351:exon11:c.A1418C:p.Y473S,NCAM1:NM_001242607:exon12:c.A1496C:p.Y499S	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0030	0.00579073	0.0019	0.0108	0.0003	0.0001	0	4.591e-05	0.0012	0.0084	0.0017658	273	154602	rs186683121	0.0007	0.0007	0.0005	0.0008	0.0100	0.0006	0.0006	0.0091	0.0088	0.0100	0.0003	0	7.557e-05	0	0	2.074e-05	0.0009	0.0064	0.0032	0.0032	0.0032	0.0032	0.0103	0.0030	0.0029	0.0095	0.0092	0.0103	0	0.0008	0	0.0002	0	0	0.0001	0.0014	0.0071	.	.	.	0.249	0.28575	T	0.852	0.49025	P	0.838	0.62516	P	0.015863	0.28130	U	0.342320	0.999554	0.47544	D	.	.	.	.	.	.	.	.	.	0.478	0.54845	-0.6600	0.62276	T	0.243	0.61107	T	9	0.017407477	0.00371	T	.	.	.	0.363	0.68319	.	.	0.764614436417	0.76247	0.7854260068134121	0.78493	.	.	0.778291225433	0.78670	T	0.325005	0.81120	T	-0.3329	0.05895	T	-0.241569	0.50646	T	0.0596276484111004	0.07110	T	0.928607	0.73726	D	0.32097432	0.54722	0.33164072	0.59021	0.32097432	0.54722	0.33164072	0.59020	-12.535	0.90611	D	.	.	0.317	0.68305	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.996370	0.58859	24.0	0.98463632499356146	0.41768	0.87634	0.47238	D	AEFDBI	0.611335	0.59982	D	0.260584365068509	0.54165	3.582734	0.278992647322552	0.54314	3.596806	0.998250037604673	0.36648	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.73	4.58	0.56077	1.487000	0.35149	5.189000	0.47892	0.756000	0.94297	0.711000	0.28732	1.000000	0.68203	0.994000	0.71098	0.7952:0.0:0.0701:0.1347	6.849	0.23189	649	0.63102	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin I-set|Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1235.33	33	chr11	113232347	.	A	C	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=720;ExcessHet=0;FS=10.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=1.79;SOR=1.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1240	18	0	1	0
chr11	113387894	113387894	G	T	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon1:c.G10T:p.D4Y	Dopamine receptor D2, reduced brain density of (3)	411	1104	7	0	0	7	0.00316027	.	.	.	3208607	ANKK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00578765513716	0.0015	0.00179712	0.0057	0.0012	0.0010	0	0	0.0058	0.0078	0.0078	0.0012484	193	154602	rs35657708	0.0023	0.0022	0.0021	0.0024	0.0057	0.0022	0.0022	0.0053	0.0051	0.0002	0.0010	7.945e-05	0	0.0006	0.0055	0.0023	0.0019	0.0057	0.0015	0.0015	0.0015	0.0015	0.0077	0.0014	0.0013	0.0057	0.0050	0.0003	0	0.0012	0	0	0.0002	0.0068	0.0023	0.0009	0.0077	0.041	0.41915	D	0.076	0.42614	T	0.843	0.46605	P	0.415	0.44933	B	0.162693	0.03051	U	2.067300	1	0.08975	N	0.695	0.17993	N	-0.94	0.75325	T	-1.13	0.29114	N	0.223	0.25006	-0.9030	0.47673	T	0.189	0.53975	T	10	0.0047269166	0.00099	T	0.005788	0.15042	T	0.296	0.61616	.	.	0.668115110642	0.66531	0.5279138317729879	0.52715	0.0747858381331	0.08389	0.703850984573	0.67702	T	0.013428	0.11615	T	-0.457785	0.01015	T	-0.429262	0.30018	T	0.00499448286885358	0.00054	T	0.39556	0.09932	T	0.071604975	0.15866	0.107329085	0.25836	0.071604975	0.15866	0.107329085	0.25836	-6.312	0.48817	T	.	.	0.113	0.22208	B	.	.	0.864437	0.12371	8.907	0.92558223819830987	0.22010	0.07568	0.13580	N	AEFDBHCIJ	0.070015	0.13882	N	-0.786845463142686	0.13652	0.6740929	-0.932303149481261	0.11334	0.5767865	0.999999999986786	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.166054	0.03999	2	0.554799	0.18163	0	.	.	4.2	-1.3	0.08777	0.428000	0.21114	-0.878000	0.07076	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	0.269:0.1258:0.477:0.1282	2.008	0.03270	845	0.36510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005187	0.000000	0.008197	0.005988	0.000000	0.000000	0.006410	0.003876	0.02632	684.33	34	chr11	113387894	.	G	T	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=673;ExcessHet=0;FS=1.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.554;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	18	0	1	0
chr11	113393582	113393582	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T287G:p.I96S	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.0831674332881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0072	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0005	2.238e-05	0.0002	2.526e-05	0	0	0.0006	0.0004	0.0001	0	4.593e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.955	0.69585	D	0.001683	0.38271	N	0.106740	0.999565	0.47592	D	2.935	0.84639	M	-2.06	0.85875	D	-2.33	0.51646	N	0.715	0.71765	0.763	0.93954	D	0.780	0.92530	D	10	0.911589	0.90524	D	0.083167	0.74058	D	0.775	0.92460	0.757	0.88648	0.959927306638	0.95950	0.7957032885202756	0.79523	0.409977009547	0.41797	0.414883732796	0.27132	T	0.347171	0.71533	T	0.250935	0.78687	D	0.122675	0.78412	D	0.947687149047852	0.62734	D	0.89841	0.64469	D	0.44384396	0.63650	0.441413	0.67426	0.44384396	0.63650	0.441413	0.67426	-14.507	0.94587	D	.	.	0.501	0.64649	A	.	.	4.032976	0.59644	24.1	0.99359289209995916	0.60946	0.97134	0.72889	D	AEFDBIJ	0.738137	0.68311	D	0.614194288404681	0.74070	6.070907	0.487549641339753	0.67165	5.04749	0.999999908240186	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.026000	0.70520	1.598000	0.27567	0.587000	0.30956	0.962000	0.33725	0.951000	0.29025	0.187000	0.21511	0.0:0.0:0.0:1.0	13.617	0.61587	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	468.33	86	chr11	113393582	.	T	G	468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.116;DP=1253;ExcessHet=0;FS=96.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=1.67;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	18	0	1	0
chr11	113393583	113393583	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T288G:p.I96M	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0351570617157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0057	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	0	0	0	0.0003	0.0003	0.0001	0	3.281e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.017	0.60337	D	0.998	0.73220	D	0.97	0.72226	D	0.001683	0.38271	N	0.106740	0.655789	0.33006	D	1.275	0.32135	L	-1.95	0.85003	D	-0.81	0.22294	N	0.406	0.44666	-0.2445	0.76508	T	0.492	0.80722	T	10	0.31718248	0.49131	T	0.035157	0.56159	D	0.409	0.72099	0.473	0.54859	0.655054467334	0.65217	0.32454232724368093	0.32367	0.20217626629	0.22641	0.383430927992	0.22742	T	0.092215	0.38958	T	-0.00139063	0.51461	T	-0.239774	0.50821	T	0.662788808345795	0.39018	D	0.717528	0.33029	T	0.16646504	0.36983	0.110757075	0.26709	0.16646504	0.36983	0.110757075	0.26709	-7.143	0.55071	T	.	.	0.105	0.19276	B	.	.	0.965068	0.13415	9.925	0.99068901766293638	0.51668	0.08553	0.14466	N	AEFDBIJ	0.073801	0.14774	N	-0.399494216881174	0.25488	1.383902	-0.606007163573675	0.19338	1.037091	0.746092867969463	0.23287	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.84	-3.55	0.04343	-1.123000	0.03375	-2.351000	0.03864	0.587000	0.30956	0.011000	0.18532	0.000000	0.08366	0.188000	0.21541	0.2335:0.2916:0.1093:0.3656	1.084	0.01546	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	86	chr11	113393583	.	T	G	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.606;DP=1254;ExcessHet=0;FS=99.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.76;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	18	0	1	0
chr11	113393585	113393585	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T290G:p.V97G	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.070781871294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0004	0	7.687e-05	2.525e-05	0	0	0.0004	0.0003	0.0001	0	2.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000189	0.48115	D	0.000000	1	0.81001	D	3.545	0.93219	H	-2.37	0.88220	D	-4.16	0.75375	D	0.592	0.61172	0.801	0.94421	D	0.848	0.94919	D	10	0.9210774	0.91462	D	0.070782	0.71095	D	0.801	0.93504	0.807	0.92442	0.967390511314	0.96704	0.8458196771722492	0.84542	0.426436801106	0.43018	0.557420492172	0.46903	T	0.54873	0.84681	D	0.384441	0.88991	D	0.314447	0.88853	D	0.997959017753601	0.92847	D	0.568943	0.20238	T	0.79488266	0.83581	0.69732916	0.82175	0.79488266	0.83582	0.69732916	0.82176	-16.144	0.97969	D	.	.	0.547	0.66670	A	.	.	4.338019	0.66532	25.0	0.99452195128265664	0.65325	0.97799	0.77218	D	AEFDBIJ	0.895341	0.83526	D	0.44898167076483	0.64146	4.663	0.297775970874994	0.55409	3.704011	0.999265279050793	0.38940	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.84	3.71	0.41733	7.760000	0.84095	3.020000	0.35998	-0.214000	0.08267	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0819:0.0:0.9181	9.694	0.39310	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	86	chr11	113393585	.	T	G	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.622;DP=1254;ExcessHet=0;FS=99.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	18	0	1	0
chr11	113397269	113397269	G	T	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon6:c.G884T:p.R295L	Dopamine receptor D2, reduced brain density of (3)	414	1103	4	0	1	5	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0207815257428	0.0012	0.000998403	0.0016	0.0003	0.0003	0	0.0002	0.0010	0.0011	0.0075	0.0015394	238	154602	rs199747130	0.0018	0.0018	0.0016	0.0019	0.0076	0.0017	0.0017	0.0071	0.0069	0.0003	0.0002	0.0004	2.519e-05	0.0002	0.0002	0.0016	0.0011	0.0076	0.0016	0.0016	0.0017	0.0016	0.0073	0.0015	0.0014	0.0054	0.0047	0.0003	0.1042	0.0004	0.0003	0	9.409e-05	0	0.0014	0	0.0073	0.253	0.16958	T	0.323	0.18959	T	0.0	0.02946	B	0.0	0.01387	B	0.787433	0.09424	U	0.868455	1	0.08975	N	-0.345	0.03330	N	-0.85	0.74371	T	-0.63	0.18459	N	0.069	0.04188	-0.9797	0.35071	T	0.162	0.49698	T	10	0.0026816428	0.00041	T	0.020782	0.43441	T	0.102	0.29158	.	.	0.368554958709	0.36468	0.3217023681194162	0.32083	0.0721314531546	0.08083	0.310952365398	0.12050	T	0.022465	0.17317	T	-0.550025	0.00292	T	-0.559263	0.16447	T	0.00292798968184439	0.00031	T	0.542346	0.18433	T	0.046599317	0.07827	0.070496984	0.14985	0.046599317	0.07827	0.070496984	0.14985	-3.364	0.14576	T	.	.	0.095	0.14933	B	.	.	0.729848	0.10990	7.651	0.17109692307620933	0.00486	0.01193	0.04262	N	AEFDBI	0.023928	0.01404	N	-1.14820299507641	0.05809	0.2658026	-1.10026408692811	0.07696	0.3753517	0.58232177051242	0.21581	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.8	2.95	0.33285	0.489000	0.22096	0.718000	0.20989	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.6172:0.1842:0.1986	4.613	0.11802	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2017.33	36	chr11	113397269	.	G	T	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=750;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.728;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	18	0	1	0
chr11	113698926	113698926	G	A	exonic	TMPRSS5	.	nonsynonymous SNV	TMPRSS5:NM_001288749:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288750:exon3:c.C175T:p.L59F,TMPRSS5:NM_001288751:exon4:c.C280T:p.L94F,TMPRSS5:NM_001288752:exon4:c.C307T:p.L103F,TMPRSS5:NM_030770:exon4:c.C307T:p.L103F	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0319359563654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260783593	6.949e-06	7.525e-06	2.757e-06	1.121e-05	0.0002	3.51e-06	2.56e-06	3.117e-05	2.118e-05	0	0	0	0	0	0.0002	1.816e-06	1.68e-05	7.297e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.45756	T	0.096	0.39340	T	0.265	0.62824	B	0.125	0.60574	B	0.559152	0.11355	N	0.786555	0.999999	0.25632	N	1.75	0.45442	L	-2.44	0.88924	D	-1.92	0.44657	N	0.227	0.27792	-0.2156	0.77268	T	0.651	0.87854	D	10	0.18059015	0.33251	T	0.031936	0.53895	D	0.271	0.58633	0.346	0.34112	0.87410230946	0.87287	0.20404953518214244	0.20321	0.0778009388178	0.08756	0.29227656126	0.09255	T	0.025477	0.21459	T	0.0279836	0.55454	T	-0.19758	0.54876	T	0.929076015949249	0.59291	D	0.659534	0.26859	T	0.067841865	0.14729	0.11518365	0.27804	0.067841865	0.14728	0.11518365	0.27804	-4.85	0.35168	T	.	.	0.067	0.18331	B	.;.;.;.;.;.	.;.;.;.;.;.	1.471190	0.18953	14.01	0.99170322510304021	0.54355	0.06697	0.12717	N	AEFDBI	0.089453	0.18130	N	-0.243979139336494	0.31343	1.756592	-0.318510697573202	0.27501	1.526454	0.937061059474884	0.27281	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.77	2.83	0.32150	1.167000	0.31456	2.619000	0.33623	0.676000	0.76740	0.002000	0.15269	0.112000	0.22806	0.964000	0.52637	0.0:0.0:0.7731:0.2269	8.670	0.33305	542	0.72843	.;.;.;.;Serine proteases, trypsin domain;Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1494.83	74	chr11	113698926	.	G	A	1494.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.231;DP=737;ExcessHet=0.119;FS=0.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.97;SOR=0.595	GT:AD:DP:GQ:PL	0/1:22,29:51:99:690,0,566	17	0	2	0
chr11	113748285	113748285	T	C	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon8:c.A1061G:p.N354S	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00910824455999	.	0.00179712	0.0009	0	0	0	0	0	0	0.0068	0.0007827	121	154602	rs201319504	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0066	0.0064	2.991e-05	0	0	2.522e-05	0	0.0002	0	0.0003	0.0070	0.0002	0.0002	8.994e-05	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	2.406e-05	0	0	0	0	0	0	0	0	0.0066	0.224	0.18691	T	0.74	0.04982	T	0.0	0.02946	B	0.006	0.12133	B	0.000000	0.84330	N	0.119478	0.999992	0.58761	D	1.28	0.32218	L	0.82	0.48142	T	-1.21	0.30762	N	0.233	0.26233	-1.0359	0.18575	T	0.087	0.33774	T	10	0.011537105	0.00252	T	0.009108	0.23965	T	0.118	0.32913	0.724	0.85850	0.276065633971	0.27208	0.19685159449161926	0.19602	0.104134967203	0.11784	0.499343246222	0.38736	T	0.032617	0.22566	T	-0.56414	0.00240	T	-0.5787	0.14661	T	0.0254312889896481	0.01330	T	0.862414	0.55771	D	0.063630395	0.13419	0.0749322	0.16445	0.063630395	0.13419	0.0749322	0.16444	-4.381	0.29298	T	.	.	0.069	0.03231	B	.	.	2.029375	0.25788	16.89	0.97798504067764613	0.36046	0.96445	0.69175	D	AEFBI	0.404910	0.47801	N	-0.52890136748288	0.21150	1.120324	-0.413959754193718	0.24588	1.347229	0.877633376464256	0.25550	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.8	3.46	0.38718	3.619000	0.53937	2.851000	0.35141	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.126:0.0676:0.0:0.8065	7.627	0.27385	540	0.73006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	902.33	43	chr11	113748285	.	T	C	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.624;DP=842;ExcessHet=0;FS=2.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.11;SOR=0.433	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr11	113780144	113780144	C	T	exonic	CLDN25	.	nonsynonymous SNV	CLDN25:NM_001101389:exon1:c.C349T:p.R117W	.	422	1098	2	0	0	2	0.000909918	.	.	.	2723175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0313743759863	8.2e-05	.	5.797e-05	0	0.0002	0	0	7.492e-05	0	0	4.53e-05	7	154602	rs368993117	6.841e-05	6.84e-05	6.262e-05	7.426e-05	0.0007	5.713e-05	5.326e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0007	7.015e-05	9.938e-05	1.159e-05	6.571e-05	6.567e-05	6.423e-05	6.726e-05	0.0003	3.517e-05	2.616e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	7.349e-05	0	0.0002	0.098	0.30800	T	0.103	0.38305	T	0.064	0.23455	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.96	0.53105	M	-0.1	0.64264	T	-3.32	0.66085	D	0.196	0.21580	-0.9124	0.46556	T	0.172	0.51325	T	9	0.093416095	0.16528	T	0.031374	0.53475	D	0.103	0.29403	.	.	0.218845423259	0.21516	0.4223300298365987	0.42150	0.0220416311012	0.02206	0.270285397768	0.06178	T	0.739038	0.92756	D	-0.368179	0.03687	T	-0.481926	0.24241	T	0.0442660593077279	0.04468	T	0.570043	0.20293	T	0.07888709	0.17991	0.13838136	0.33049	0.07888709	0.17991	0.13838136	0.33048	-5.33	0.40239	T	.	.	0.096	0.15564	B	.	.	0.703888	0.10728	7.418	0.71545330734592549	0.09665	0.07625	0.13634	N	AEFBI	0.160428	0.28636	N	-1.23283083874519	0.04531	0.2046841	-1.38204466937299	0.03443	0.1606219	0.994802712372525	0.33809	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.1	-7.08	0.01404	-1.235000	0.03037	-3.627000	0.02647	-0.968000	0.01952	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.2416:0.6639:0.0:0.0945	7.369	0.25965	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1985.33	34	chr11	113780144	.	C	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.325;DP=821;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.928;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	113803210	113803210	C	T	exonic	USP28	.	nonsynonymous SNV	USP28:NM_001346268:exon19:c.G1811A:p.R604H,USP28:NM_001301029:exon20:c.G2339A:p.R780H,USP28:NM_001346259:exon21:c.G2636A:p.R879H,USP28:NM_001346260:exon21:c.G2438A:p.R813H,USP28:NM_001346261:exon21:c.G2435A:p.R812H,USP28:NM_001346262:exon21:c.G2339A:p.R780H,USP28:NM_001346267:exon21:c.G1811A:p.R604H,USP28:NM_001346272:exon21:c.G1658A:p.R553H,USP28:NM_001346257:exon22:c.G2732A:p.R911H,USP28:NM_001346258:exon22:c.G2714A:p.R905H,USP28:NM_001346264:exon22:c.G1997A:p.R666H,USP28:NM_001346269:exon22:c.G1754A:p.R585H,USP28:NM_001346253:exon23:c.G2918A:p.R973H,USP28:NM_001346254:exon23:c.G2813A:p.R938H,USP28:NM_001346263:exon23:c.G2135A:p.R712H,USP28:NM_020886:exon23:c.G2810A:p.R937H,USP28:NM_001346252:exon24:c.G2996A:p.R999H,USP28:NM_001346255:exon24:c.G2801A:p.R934H,USP28:NM_001346271:exon24:c.G1754A:p.R585H,USP28:NM_001346265:exon25:c.G1940A:p.R647H,USP28:NM_001346270:exon25:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00759026409893	.	.	2.481e-05	0	0	0	0	4.518e-05	0	0	1.94e-05	3	154602	rs772711679	7.525e-06	7.524e-06	1.225e-05	2.75e-06	2.519e-05	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	3.744e-05	0	6.295e-06	0	1.16e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.829e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0	0.574	0.14207	T	0.164	0.31026	T	0.003	0.19556	B	0.002	0.11217	B	0.008594	0.30766	N	0.387157	1	0.08975	N	0.345	0.11182	N	1.52	0.43672	T	0.16	0.05217	N	0.334	0.45047	-1.0489	0.14705	T	0.051	0.21650	T	10	0.04018125	0.02566	T	0.00759	0.20139	T	0.016	0.02506	0.379	0.39482	0.362960570912	0.35913	0.11083709353724526	0.11012	0.296746577044	0.32059	0.27142482996	0.06327	T	0.020378	0.16057	T	-0.372025	0.03493	T	-0.590636	0.13610	T	0.113385209440588	0.13771	T	0.772623	0.52235	T	0.028114174	0.02100	0.023605624	0.00374	0.028114174	0.02099	0.023605624	0.00374	-6.079	0.46936	T	.	.	0.069	0.03266	B	.;.;.	.;.;.	2.969639	0.39573	21.0	0.985348896130118	0.42645	0.06736	0.12758	N	AEFDBI	0.051730	0.09168	N	-0.614950813816937	0.18495	0.9606371	-0.473690968939052	0.22882	1.245046	0.179903681887063	0.17856	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.28	3.43	0.38372	0.291000	0.18748	1.062000	0.23729	0.599000	0.40250	0.036000	0.20778	0.997000	0.33255	0.899000	0.43558	0.0:0.7004:0.0:0.2996	8.028	0.29609	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1188.33	33	chr11	113803210	.	C	T	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=743;ExcessHet=0;FS=3.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.013;SOR=0.58	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	18	0	1	0
chr11	113944632	113944632	T	G	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon7:c.T934G:p.L312V,HTR3B:NM_006028:exon8:c.T967G:p.L323V	.	418	1091	12	1	0	14	0.00637523	.	.	.	701564	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0580003210186	0.0028	0.00159744	0.0032	0.0005	0.0025	0	0.0005	0.0039	0.0022	0.0056	0.0033505	518	154602	rs78418698	0.0042	0.0042	0.0041	0.0042	0.0046	0.0041	0.0040	0.0045	0.0044	0.0005	0.0034	0.0061	2.519e-05	0.0004	0.0033	0.0046	0.0043	0.0045	0.0032	0.0032	0.0033	0.0030	0.0050	0.0029	0.0028	0.0042	0.0040	0.0007	0	0.0047	0.0058	0.0002	0.0010	0	0.0046	0.0043	0.0050	0.167	0.23271	T	0.393	0.15355	T	0.046	0.21875	B	0.083	0.29179	B	0.000454	0.44317	N	0.153018	0.999066	0.21661	N	-0.01	0.05129	N	-1.06	0.76819	T	-0.04	0.07590	N	0.163	0.17140	-0.8433	0.52426	T	0.172	0.51373	T	10	0.0069458187	0.00158	T	0.058	0.67166	D	0.195	0.47612	.	.	0.434606191737	0.43079	0.4094563710630575	0.40861	0.187746169235	0.21096	0.372855424881	0.21241	T	0.07971	0.36192	T	-0.464168	0.00925	T	-0.43691	0.29154	T	0.0115888405804335	0.00176	T	0.710329	0.33361	T	0.05612095	0.10997	0.10945402	0.26379	0.05612095	0.10997	0.10945402	0.26379	-3.49	0.21824	T	.	.	0.096	0.19398	B	.;.	.;.	-0.630864	0.01489	0.093	0.68322907402208999	0.08623	0.03706	0.08988	N	AEFBI	0.071391	0.14210	N	-1.77048599265315	0.00621	0.02678996	-1.82427643567332	0.00684	0.03046396	0.395939168873913	0.20088	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	-7.72	0.01112	-0.749000	0.04918	-1.581000	0.05125	-0.717000	0.03845	0.006000	0.17386	0.000000	0.08366	0.147000	0.20199	0.0:0.6568:0.1315:0.2117	11.757	0.51148	903	0.23940	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1686.33	33	chr11	113944632	.	T	G	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=804;ExcessHet=0;FS=1.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.637;SOR=0.86	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	18	0	1	0
chr11	113946042	113946042	C	T	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon8:c.C1198T:p.R400C,HTR3B:NM_006028:exon9:c.C1231T:p.R411C	.	.	.	.	.	.	.	.	.	.	.	3270628	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0483207198616	0.0002	.	4.121e-05	9.623e-05	0	0.0002	0	0	0	0.0001	3.23e-05	5	154602	rs144980029	4.994e-05	4.994e-05	3.948e-05	6.05e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	0.0004	2.236e-05	0	2.519e-05	0	0	3.867e-05	3.312e-05	0.0001	5.919e-05	6.567e-05	3.856e-05	8.079e-05	0.0002	3.08e-05	2.212e-05	0.0001	8.46e-05	0.0002	0	0	0	0	0	0	0	0	0	0.036	0.49117	D	0.019	0.59159	D	0.996	0.70673	D	0.53	0.56482	P	0.001883	0.37740	N	0.258863	0.979303	0.39548	D	2.39	0.68882	M	1.86	0.24285	T	-1.17	0.29933	N	0.176	0.30233	-1.0195	0.23877	T	0.094	0.35578	T	10	0.2766311	0.45226	T	0.048321	0.63323	D	0.135	0.36572	.	.	0.450539155747	0.44678	0.2754037371227401	0.27453	0.151774190141	0.17126	0.253893971443	0.04190	T	0.004736	0.04144	T	-0.374309	0.03382	T	-0.421412	0.30914	T	0.224937915802002	0.21708	T	0.79532	0.43818	T	0.11509679	0.27164	0.065410025	0.13253	0.11509679	0.27163	0.065410025	0.13252	-5.811	0.44670	T	.	.	0.113	0.23535	B	.;.	.;.	3.505512	0.49069	22.7	0.99854080381474775	0.93279	0.39135	0.26145	N	AEFBI	0.200843	0.32754	N	-0.000920105185344494	0.41813	2.507832	-0.108101939521375	0.35063	2.02411	0.0122873787915178	0.12305	0.55562	0.30534	0	0.627178	0.54094	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	5.48	3.54	0.39650	0.686000	0.25072	2.215000	0.31401	0.549000	0.26987	0.085000	0.22462	0.010000	0.20010	0.046000	0.14843	0.1467:0.7766:0.0:0.0767	8.895	0.34620	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2183.33	33	chr11	113946042	.	C	T	2183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.951;DP=798;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.16;SOR=0.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1428	18	0	1	0
chr11	114405714	114405714	A	G	exonic	RBM7	.	nonsynonymous SNV	RBM7:NM_001286045:exon4:c.A356G:p.E119G,RBM7:NM_016090:exon4:c.A353G:p.E118G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0120164016902	.	.	3.325e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs756862051	1.61e-05	1.642e-05	6.962e-06	2.534e-05	0.0003	1.072e-05	8.96e-06	0.0002	0.0002	0	0	0	0	0	0	9.095e-07	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.469e-05	0	0	0.212	0.39575	T	0.324	0.40909	T	0.007	0.14184	B	0.012	0.16012	B	0.000148	0.49130	D	0.215362	0.536448	0.81001	D	2.125	0.59049	M	1.71	0.26737	T	-1.41	0.34992	N	0.653	0.69387	-1.0987	0.04252	T	0.058	0.24502	T	10	0.093880504	0.16649	T	0.012016	0.30212	T	0.084	0.24469	0.175	0.08135	0.455605821045	0.45183	0.29498346277784404	0.29411	0.634426790786	0.57297	0.425430774689	0.28584	T	0.029681	0.21214	T	-0.261813	0.12688	T	-0.307876	0.43887	T	0.221816875801456	0.21554	T	0.80242	0.45897	T	0.08941026	0.20890	0.09783726	0.23302	0.08941026	0.20890	0.09783726	0.23302	-2.4	0.05133	T	.	.	0.238	0.50082	B	.;.;.;.	.;.;.;.	3.169757	0.42985	21.6	0.99569056560606051	0.72258	0.95284	0.64125	D	AEFGBI	0.429080	0.49235	N	-0.0852495324593219	0.38038	2.22189	0.0892275637680481	0.44005	2.690712	0.999983793672443	0.51787	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.792000	0.62161	11.140000	0.87044	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	1.0:0.0:0.0:0.0	14.530	0.67502	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	34	chr11	114405714	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=733;ExcessHet=0;FS=4.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-1.622;SOR=0.367	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1374	18	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.07895	4554.79	38	chr11	114530269	.	G	C	4554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=950;ExcessHet=0.3672;FS=2.216;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.975;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1317	16	0	3	0
chr11	116787938	116787938	G	A	exonic	ZPR1	.	nonsynonymous SNV	ZPR1:NM_001317086:exon1:c.C53T:p.P18L,ZPR1:NM_003904:exon1:c.C53T:p.P18L	.	366	1140	12	4	0	20	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0019	0.00239617	0.0103	0	0.0078	0	0	0.0122	0	0.0119	0.0017788	275	154602	rs201399491	0.0030	0.0030	0.0029	0.0032	0.0073	0.0030	0.0029	0.0067	0.0065	0.0005	0.0023	0.0027	0	0.0004	0.0060	0.0030	0.0028	0.0073	0.0025	0.0025	0.0027	0.0022	0.0083	0.0023	0.0022	0.0063	0.0055	0.0006	0.0011	0.0037	0.0020	0.0002	0.0002	0.0103	0.0035	0.0019	0.0083	0.084	0.32929	T	0.043	0.49942	D	0.004	0.12183	B	0.002	0.06944	B	0.111825	0.19383	N	0.541138	0.999993	0.08975	N	1.845	0.48678	L	1.0	0.41392	T	-0.31	0.12099	N	0.229	0.25745	-1.0304	0.20325	T	0.052	0.22037	T	10	0.0068852305	0.00156	T	.	.	.	0.043	0.11576	.	.	0.530011692926	0.52648	0.3534086739284269	0.35254	0.302477750187	0.32578	0.654443562031	0.60618	T	0.067876	0.33313	T	-0.468113	0.00873	T	-0.440904	0.28706	T	0.0249114520225968	0.01261	T	0.709329	0.31993	T	0.055080995	0.10657	0.03314311	0.02162	0.055080995	0.10657	0.03314311	0.02161	-6.703	0.51833	T	.	.	0.102	0.18164	B	.	.	2.894880	0.38354	20.7	0.97785345092538878	0.35963	0.13436	0.17855	N	AEFDGBHCI	0.108545	0.21589	N	-0.457693407535021	0.23480	1.261208	-0.478955744569532	0.22734	1.236284	0.99999999999993	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.249971	0.05119	0	.	.	5.64	4.73	0.59485	2.804000	0.47628	5.429000	0.48587	0.670000	0.69193	0.287000	0.25205	1.000000	0.68203	0.006000	0.07323	0.0828:0.0:0.9172:0.0	11.755	0.51140	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008724	0.000000	0.007042	0.003676	0.000000	0.000000	0.022876	0.008000	0.05263	1608.83	38	chr11	116787938	.	G	A	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.108;DP=734;ExcessHet=0.119;FS=2.562;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.574;SOR=0.483	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1131	17	0	2	0
chr11	116821087	116821087	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A971G:p.Q324R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0715158976929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs977366818	1.779e-05	1.847e-05	1.497e-05	2.063e-05	6.708e-05	1.237e-05	1.051e-05	1.779e-05	9.55e-06	0	6.708e-05	0	0	0	0	1.799e-05	3.311e-05	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.25	0.23707	T	.	.	.	.	.	.	0.262827	0.15280	N	0.640446	0.997115	0.22786	N	.	.	.	-0.85	0.74371	T	-1.45	0.35597	N	0.126	0.11912	-0.7457	0.58159	T	0.282	0.65428	T	10	0.25124267	0.42461	T	0.071516	0.71288	D	0.087	0.25287	0.297	0.26202	0.507213507908	0.50361	0.08287507691467023	0.08222	0.0875372861277	0.09878	0.258933782578	0.04764	T	.	.	.	-0.209656	0.19426	T	-0.456067	0.27028	T	0.283807039260864	0.24331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25034	B	.	.	1.510139	0.19401	14.24	0.97072547584946656	0.32243	0.48842	0.28298	N	AEFDBI	0.575733	0.57801	D	-0.448131298307671	0.23804	1.280881	-0.527837713495458	0.21398	1.157409	0.999472445079993	0.39898	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.39	1.8	0.24069	1.440000	0.34634	1.690000	0.28065	-0.123000	0.13640	0.008000	0.17931	0.225000	0.23742	0.023000	0.12082	0.0:0.1469:0.138:0.7151	6.101	0.19271	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3904.33	204	chr11	116821087	.	T	C	3904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=2116;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.372;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr11	116821597	116821597	C	T	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.G461A:p.R154Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.026534463517	.	.	1.669e-05	0	0	0.0001	0	1.518e-05	0	0	1.94e-05	3	154602	rs746344058	4.185e-05	4.242e-05	4.915e-05	3.448e-05	5.043e-05	3.32e-05	3.01e-05	3.721e-05	3.375e-05	2.991e-05	2.241e-05	0	5.043e-05	0	0	4.771e-05	4.974e-05	1.161e-05	3.938e-05	3.937e-05	5.138e-05	2.685e-05	0.0002	1.714e-05	1.128e-05	7.97e-06	2.98e-06	4.81e-05	0	6.532e-05	0	0.0002	0	0	2.94e-05	0	0	0.509	0.07521	T	0.996	0.02331	T	.	.	.	.	.	.	0.361440	0.13664	N	0.665350	0.999963	0.18878	N	.	.	.	-0.75	0.73311	T	-0.69	0.19720	N	0.232	0.26111	-0.8868	0.49206	T	0.148	0.47362	T	10	0.079954326	0.12923	T	0.026534	0.49438	D	0.132	0.35948	0.515	0.61459	0.258283824007	0.25425	0.35954839324665167	0.35868	0.0778197317161	0.08756	0.21843226254	0.01221	T	.	.	.	-0.273548	0.11365	T	-0.461581	0.26427	T	0.0868580515460345	0.10842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	1.467404	0.18910	13.99	0.98820549956325887	0.46769	0.03433	0.08568	N	AEFDBI	0.159356	0.28514	N	-0.93395827874724	0.10055	0.4787141	-0.990160072736427	0.10005	0.5012239	0.990753744425325	0.32258	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.49	-1.67	0.07798	0.293000	0.18785	-0.053000	0.12521	-0.182000	0.10109	0.077000	0.22263	0.001000	0.17328	0.637000	0.32341	0.0:0.6024:0.0:0.3976	10.066	0.41479	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3653.33	204	chr11	116821597	.	C	T	3653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.07;DP=2117;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.861;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1179:.	18	0	1	0
chr11	117181862	117181862	A	C	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon3:c.A361C:p.T121P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00935654892597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.18691	T	0.289	0.23365	T	0.002	0.68779	B	0.013	0.65999	B	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	1.445	0.36358	L	2.2	0.18875	T	-1.16	0.49519	N	0.595	0.61426	-1.1329	0.01648	T	0.081	0.31972	T	10	0.20899123	0.37247	T	0.009357	0.24553	T	0.125	0.34456	0.312	0.28612	0.259761712551	0.25597	0.40172421063259917	0.40088	1.4418905105	0.85993	0.532911777496	0.43445	T	0.019309	0.16701	T	-0.0129902	0.49847	T	-0.256436	0.49178	T	0.903949916362762	0.55728	D	0.813919	0.76101	T	0.4095273	0.61386	0.22074287	0.46861	0.4095273	0.61387	0.22074287	0.46860	-4.783	0.34392	T	.	.	0.222	0.52219	B	.;.;.;.;.;.	.;.;.;.;.;.	3.158701	0.42787	21.6	0.9925564907920249	0.57022	0.89840	0.50569	D	AEFDBCI	0.760072	0.69820	D	-0.0753482558944013	0.38476	2.254085	0.0406328139637303	0.41622	2.503631	0.999999843486306	0.74766	0.743674	0.98306	0	0.635938	0.57008	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	5.14	4.02	0.45968	3.821000	0.55401	4.128000	0.42014	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.9261:0.0:0.0739:0.0	10.846	0.45950	591	0.68823	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1828.33	39	chr11	117181862	.	A	C	1828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=783;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.986;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	18	0	1	0
chr11	117208910	117208910	G	C	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon13:c.C1678G:p.R560G	.	417	1091	14	0	0	14	0.00637523	.	.	.	1053638	Midline_facial_cleft|Pericallosal_lipoma|Skin_tags|not_provided	Human_Phenotype_Ontology:HP:0100629,MedGen:C4022007,Orphanet:141234|Human_Phenotype_Ontology:HP:0006931,MONDO:MONDO:0003845,MedGen:C1333160|Human_Phenotype_Ontology:HP:0010609,MONDO:MONDO:0004026,MedGen:C0037293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.712	.	.	.	0.0104	0.0102	0.0063	0.0233	0.0130	0.0082	0.0066	0.0169	0.0093401	1444	154602	rs202038275	0.0005	0.0059	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0004	0.0002	0.0007	0.0008	0.0004	0.0010	0.0004	0.0004	0.0009	0.0002	0.0027	0.0002	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0001	0.0003	0.0002	0.0002	0	0.0002	0	0.0011	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	4.15	0.97575	H	-0.55	0.71068	T	-6.31	0.90812	D	0.912	0.91391	0.011	0.82473	D	0.513	0.81738	D	10	0.042326003	0.02971	T	.	.	.	0.712	0.89741	.	.	.	.	0.8736943716652924	0.87335	1.64757782107	0.89487	0.451385378838	0.32133	T	0.388708	0.74932	T	-0.104841	0.35621	T	0.0723236	0.75066	D	0.13287039981862	0.15645	T	0.915808	0.69967	D	0.7359446	0.80061	0.62001324	0.77867	0.7359446	0.80062	0.62001324	0.77868	-12.782	0.88445	D	.	.	0.995	0.95383	P	.;.	.;.	4.809372	0.78220	26.9	0.9956249385700201	0.71892	0.79667	0.39522	D	AEFDGHCIJ	0.536942	0.55495	D	0.24201170545192	0.53246	3.494293	0.118380887668995	0.45490	2.811167	0.999989991100952	0.51787	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.68	3.77	0.42499	1.994000	0.40377	9.944000	0.82678	-0.168000	0.11412	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0864:0.0:0.7545:0.1591	7.886	0.28816	645	0.63593	P domain|P domain;P domain|P domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.025253	0.019022	0.052632	0.100000	0.051724	0.006098	0.037879	0.02632	148.35	34	chr11	117208910	.	G	C	148.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.331;DP=777;ExcessHet=0;FS=8.74;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=56.49;MQRankSum=-8.076;QD=1.93;ReadPosRankSum=-0.521;SOR=1.302	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1298	18	0	1	0
chr11	117281972	117281972	A	G	exonic	RNF214	.	nonsynonymous SNV	RNF214:NM_001077239:exon11:c.A1414G:p.M472V,RNF214:NM_001278249:exon11:c.A949G:p.M317V,RNF214:NM_207343:exon11:c.A1414G:p.M472V	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0029565212334	0.0002	.	0.0001	0.0002	0	0	0.0003	5.994e-05	0.0011	0.0002	8.41e-05	13	154602	rs372942701	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.987e-05	4.472e-05	0	0	1.872e-05	0.0009	0.0001	0.0001	0.0003	6.579e-05	6.569e-05	5.145e-05	8.081e-05	0.0002	3.521e-05	2.619e-05	4.745e-05	3.057e-05	0.0001	0	0	0	0	9.445e-05	0	4.412e-05	0	0.0002	0.556	0.06523	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.020765	0.26970	N	0.442593	0.998956	0.21765	N	0.205	0.09354	N	1.0	0.41392	T	0.27	0.04306	N	0.148	0.20528	-1.0385	0.17771	T	0.051	0.21572	T	10	0.03623131	0.01910	T	0.002957	0.06309	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.21439711801994119	0.21355	0.597247987986	0.54927	0.456062883139	0.32772	T	0.007618	0.07015	T	-0.481444	0.00725	T	-0.629013	0.10490	T	0.00396905586632035	0.00042	T	0.772923	0.40417	T	0.066837676	0.14420	0.06044268	0.11511	0.066837676	0.14420	0.06044268	0.11510	-2.747	0.07706	T	.	.	0.061	0.01622	B	.;.;.;.	.;.;.;.	1.020483	0.13998	10.57	0.84453156469314117	0.15300	0.48065	0.28123	N	AEFBI	0.043740	0.06951	N	-0.530098964818521	0.21112	1.118018	-0.352620266042058	0.26427	1.459698	0.99974801520428	0.42466	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.67	2.08	0.26079	1.450000	0.34745	3.484000	0.38668	0.756000	0.94297	0.866000	0.30720	1.000000	0.68203	1.000000	0.97212	0.6176:0.0:0.3824:0.0	7.633	0.27414	651	0.62880	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1915.33	164	chr11	117281972	.	A	G	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.224;SOR=0.713	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr11	117381775	117381775	C	G	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon12:c.C1493G:p.P498R,CEP164:NM_014956:exon13:c.C1484G:p.P495R	Nephronophthisis 15, Autosomal recessive	11	1503	8	0	0	8	0.00265428	.	.	.	237108	Nephronophthisis_15|not_provided	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	.	0.0177716	0.0107	0.0006	0.0004	0.0260	0	0.0001	0.0063	0.0495	0.0060154	930	154602	rs59763167	0.0033	0.0033	0.0022	0.0043	0.0425	0.0032	0.0031	0.0413	0.0408	0.0005	9.342e-05	3.894e-05	0.0173	0	0.0011	0.0001	0.0053	0.0425	0.0024	0.0024	0.0016	0.0032	0.0483	0.0022	0.0021	0.0432	0.0413	0.0005	0	0.0001	0	0.0191	0	0.0034	0.0001	0.0009	0.0483	0.051	0.39334	T	0.608	0.07741	T	0.899	0.49514	P	0.648	0.52381	P	0.934608	0.07556	N	1.035800	1	0.08975	N	1.525	0.38595	L	0.31	0.58613	T	-0.05	0.07736	N	0.103	0.08646	-0.8353	0.52956	T	0.218	0.58111	T	10	0.002693832	0.00042	T	.	.	.	0.151	0.39764	.	.	0.287603790349	0.28378	0.13610659750155427	0.13534	0.118128769818	0.13296	0.271961629391	0.06399	T	0.007897	0.07275	T	-0.54896	0.00296	T	-0.530619	0.19226	T	0.00715866890247695	0.00082	T	0.542346	0.18433	T	0.032223687	0.03207	0.04674331	0.06584	0.032223687	0.03207	0.04674331	0.06583	-3.613	0.18045	T	.	.	0.078	0.06756	B	.	.	-0.469543	0.01966	0.170	0.96786173296348332	0.31094	0.02067	0.06161	N	AEFDBI	0.045355	0.07407	N	-0.728184781383509	0.15232	0.7658717	-0.967632724114321	0.10518	0.5301902	0.509810326501858	0.21010	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	3.67	-1.37	0.08582	-1.953000	0.01617	-4.644000	0.02054	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3568:0.0:0.6432	7.228	0.25203	796	0.45353	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005086	0.000000	0.001362	0.008824	0.000000	0.000000	0.006135	0.011538	0.02632	329.33	39	chr11	117381775	.	C	G	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=689;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.462;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:72:.:.:0,72,1080:.	18	0	1	0
chr11	117394473	117394473	C	T	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon20:c.C2749T:p.R917W,CEP164:NM_014956:exon21:c.C2740T:p.R914W	Nephronophthisis 15, Autosomal recessive	10	1509	3	0	0	3	0.000993049	.	.	.	1030064	Inborn_genetic_diseases|Nephronophthisis_15	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0185275069786	.	.	7.72e-05	0	0	0	0.0003	6.177e-05	0.0012	0.0001	6.47e-05	10	154602	rs541217768	7.937e-05	7.935e-05	6.807e-05	9.078e-05	0.0009	6.735e-05	6.268e-05	0.0004	0.0002	5.975e-05	6.71e-05	0	0	1.873e-05	0.0009	7.284e-05	6.626e-05	0.0002	3.943e-05	3.94e-05	5.14e-05	2.69e-05	4.826e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	9.425e-05	0	4.41e-05	0	0	0.051	0.39334	T	0.058	0.46182	T	0.01	0.15535	B	0.003	0.08700	B	0.071573	0.21465	N	0.333926	0.999921	0.19486	N	1.6	0.40776	L	0.9	0.45248	T	-3.72	0.70793	D	0.275	0.31140	-0.9469	0.41498	T	0.168	0.50729	T	10	0.06287721	0.08107	T	0.018528	0.40624	T	0.079	0.23065	0.291	0.25241	0.128392430309	0.12331	0.08779702365530462	0.08712	0.116468510547	0.13138	0.331542760134	0.15167	T	0.176165	0.52601	T	-0.371978	0.03495	T	-0.479949	0.24452	T	0.0433391119350566	0.04300	T	0.852015	0.53695	D	0.0505926	0.09165	0.07538848	0.16592	0.0505926	0.09164	0.07538848	0.16591	-9.439	0.70479	D	0.16386415355001213	0.20216	0.118	0.24192	B	.	.	3.207147	0.43640	21.8	0.98251182865976705	0.39576	0.41450	0.26660	N	AEFBI	0.193327	0.32045	N	-0.513026521109098	0.21659	1.151025	-0.544032685195895	0.20964	1.131903	0.101499554059475	0.16380	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.55	0.086	0.13753	0.466000	0.21731	-0.645000	0.08057	-0.314000	0.05961	0.263000	0.24978	0.000000	0.08366	0.689000	0.33808	0.2894:0.415:0.133:0.1626	1.729	0.02752	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1311.33	122	chr11	117394473	.	C	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.709;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.57;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1298	18	0	1	0
chr11	117395553	117395553	A	G	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon23:c.A2929G:p.T977A,CEP164:NM_014956:exon24:c.A2920G:p.T974A	Nephronophthisis 15, Autosomal recessive	9	1508	4	1	0	6	0.00198544	.	.	.	692932	Inborn_genetic_diseases|Nephronophthisis_15|CEP164-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00498841053456	7.7e-05	0.000199681	0.0006	9.923e-05	0.0011	0	0	0.0006	0.0012	0.0014	0.0004916	76	154602	rs56699807	0.0003	0.0003	0.0003	0.0003	0.0020	0.0003	0.0003	0.0011	0.0010	0	0.0005	0.0051	0	0	0.0020	0.0001	0.0008	0.0013	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	0	0.0033	0	0.0035	0	0	0	0.0002	0.0005	0.0015	0.251	0.17069	T	0.726	0.05238	T	0.006	0.13644	B	0.007	0.12992	B	0.074262	0.21295	N	0.401465	0.975441	0.25433	N	1.445	0.36358	L	1.58	0.29085	T	-1.83	0.42957	N	0.115	0.10340	-0.9818	0.34585	T	0.039	0.16763	T	10	0.003809005	0.00071	T	0.004988	0.12598	T	0.041	0.10877	.	.	0.215109475489	0.21095	0.0549747269844219	0.05438	0.109687935523	0.12372	0.266483128071	0.05687	T	0.017784	0.14448	T	-0.51244	0.00486	T	-0.549394	0.17385	T	0.0127579495750176	0.00216	T	0.505249	0.15946	T	0.035905503	0.04316	0.050819375	0.08053	0.035905503	0.04316	0.050819375	0.08052	-4.332	0.28623	T	0.1247343933027776	0.12288	0.074	0.05188	B	.	.	0.901971	0.12757	9.278	0.92089860702772075	0.21439	0.09356	0.15128	N	AEFDBI	0.029851	0.02894	N	-0.88038738340894	0.11310	0.5451213	-0.810588600920957	0.14239	0.7429851	0.592623135732885	0.21659	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.02	-2.3	0.06399	0.159000	0.16258	0.088000	0.14478	0.691000	0.84096	0.088000	0.22533	0.000000	0.08366	0.892000	0.42986	0.3931:0.0:0.6069:0.0	11.116	0.47484	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1585.33	36	chr11	117395553	.	A	G	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.159;DP=806;ExcessHet=0;FS=2.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.713;SOR=0.951	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1468	18	0	1	0
chr11	117428539	117428539	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.C5951T:p.A1984V	.	467	1051	4	0	0	4	0.00189934	.	.	.	1870606	DSCAML1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.466210098701	.	.	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001358	21	154602	rs760492346	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.258e-05	0.0002	0	0	4.263e-05	0.0025	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.076e-05	0.0004	9.16e-05	7.713e-05	0.0001	7.908e-05	2.412e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0009	0.0004	0.177	0.22746	T	0.181	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.975909	0.39229	D	.	.	.	-0.01	0.63403	T	-1.05	0.29525	N	0.246	0.32148	-0.9537	0.40327	T	0.124	0.42673	T	9	0.09348783	0.16549	T	0.46621	0.94600	D	0.158	0.41098	.	.	0.619695279946	0.61661	0.27005283642960815	0.26918	0.00832187510535	0.00754	0.86537539959	0.91901	D	.	.	.	-0.0113619	0.50076	T	-0.254097	0.49413	T	0.0852401710544109	0.10644	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.147	0.32469	B	.;.	.;.	3.530975	0.49542	22.8	0.99579486933977424	0.72921	0.98155	0.80075	D	AEFBI	0.758398	0.69705	D	-0.202927074104933	0.33014	1.868289	-0.0723673569025499	0.36538	2.127603	0.889404668155575	0.25812	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.85	0.43556	6.360000	0.73005	9.516000	0.80927	0.484000	0.22197	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.0:0.1501:0.8499:0.0	14.321	0.66044	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002309	0.000000	0.001524	0.006452	0.000000	0.000000	0.000000	0.000000	0.07895	706.98	18	chr11	117428539	.	G	A	706.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.545;DP=266;ExcessHet=0;FS=1.342;InbreedingCoeff=0.5996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.372;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:26:.:.:0,26,281:.	17	1	1	0
chr11	117428698	117428698	C	T	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.G5792A:p.R1931Q	.	421	1091	9	1	0	11	0.00501596	.	.	.	1469589	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.11000122047	0.0002	.	0.0004	0.0001	0.0001	0	0	0.0002	0.0014	0.0017	0.0002458	38	154602	rs145244816	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	8.963e-05	0.0003	0	2.52e-05	0	0.0028	0.0002	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	7.223e-05	0	0.0002	0	0	0	0	0.0002	0	0.0027	0.098	0.30800	T	0.044	0.52727	D	.	.	.	.	.	.	.	.	.	.	0.999947	0.51968	D	.	.	.	-0.01	0.63568	T	-1.03	0.28290	N	0.749	0.74826	-0.8467	0.52195	T	0.146	0.46967	T	9	0.2435965	0.41577	T	0.110001	0.78720	D	0.232	0.53354	.	.	0.885940289631	0.88482	0.4373997417049692	0.43656	0.0225984366444	0.02283	0.618798017502	0.55559	T	.	.	.	-0.0620261	0.42588	T	0.0975942	0.76748	D	0.115146037201533	0.13948	T	0.969103	0.88867	D	.	.	.	.	.	.	.	.	-4.211	0.26910	T	.	.	0.206	0.43255	B	.;.	.;.	4.512927	0.70686	25.6	0.99899561988283148	0.97199	0.93119	0.57376	D	AEFDBCI	0.833656	0.75184	D	0.298152421354868	0.56056	3.769745	0.402072086910587	0.61693	4.373163	0.999968972043825	0.48965	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	5.804000	0.68800	7.527000	0.59855	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.468	0.90708	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002535	0.000000	0.004076	0.005882	0.000000	0.000000	0.003086	0.000000	0.02632	960.33	33	chr11	117428698	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.335;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1000	18	0	1	0
chr11	117482090	117482090	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon12:c.C2432T:p.T811M,DSCAML1:NM_020693:exon12:c.C2432T:p.T811M	.	415	1106	1	0	0	1	0.000451875	.	.	.	1963597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.355	0.0481225642495	.	.	8.26e-06	0	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs758143629	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0009	1.932e-05	1.692e-05	0.0003	0.0002	2.987e-05	8.945e-05	0	2.519e-05	0	0.0009	1.529e-05	0	0.0001	2.628e-05	2.627e-05	2.569e-05	2.689e-05	7.237e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	1.47e-05	0	0	0.046	0.40832	D	0.011	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	-0.41	0.69413	T	-2.57	0.56630	D	0.475	0.51048	-0.4629	0.69971	T	0.310	0.68021	T	9	0.4286144	0.57341	T	0.048123	0.63233	D	0.355	0.67600	.	.	0.704990554045	0.70242	0.5745498944271185	0.57383	1.20088527153	0.80543	0.666771650314	0.62378	T	.	.	.	-0.125594	0.32210	T	-0.236655	0.51124	T	0.920189023017883	0.57924	D	0.816118	0.47137	T	.	.	.	.	.	.	.	.	-8.753	0.66093	D	.	.	0.121	0.25067	B	.;.	.;.	4.163198	0.62537	24.5	0.99698788822086404	0.80453	0.96298	0.68457	D	AEFDBI	0.814217	0.73649	D	0.164449566554654	0.49499	3.149523	0.111854426672612	0.45154	2.783653	0.998789138771609	0.37667	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.89	2.98	0.33575	5.884000	0.69473	9.806000	0.81721	-0.170000	0.11276	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0872:0.0:0.9128:0.0	11.701	0.50835	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2973.33	33	chr11	117482090	.	G	A	2973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=863;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.09;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	117822435	117822435	G	T	exonic	FXYD2;FXYD6-FXYD2	.	nonsynonymous SNV	FXYD2:NM_001680:exon3:c.C110A:p.A37D,FXYD2:NM_021603:exon3:c.C104A:p.A35D,FXYD6-FXYD2:NM_001204268:exon8:c.C344A:p.A115D	.	0	1519	3	0	0	3	0.000986518	.	.	.	752445	FXYD2-related_disorder|not_provided|Renal_hypomagnesemia_2|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0007937,MedGen:C1835171,OMIM:154020,Orphanet:34528|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.438	0.219841578017	0.0006	0.000199681	0.0011	0.0003	0	0	0	0.0013	0	0.0012	0.0004722	73	154602	rs138991613	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0002	0.0006	0.0010	0	0.0003	0.0004	0.0008	0.0006	0.0008	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	0.0002	0.0011	0.0002	0.0017	0	0.0002	0.0034	0.0008	0.0009	0.0010	0.037	0.51853	D	0.012	0.65728	D	1.0	0.90584	D	0.998	0.92359	D	0.024300	0.01609	N	2.277430	1	0.81001	D	.	.	.	-0.25	0.67011	T	-3.95	0.73477	D	0.919	0.92200	-0.5611	0.66362	T	0.542	0.83108	D	9	0.3850584	0.54478	T	0.219842	0.87727	D	0.438	0.74235	.	.	0.440540251273	0.43675	0.4263400862171417	0.72676	0.759666535503	0.64183	.	.	.	0.586428	0.86536	D	-0.0309012	0.47287	T	0.152757	0.80358	D	0.134326021029194	0.15776	T	0.817418	0.48291	T	0.5663145	0.70857	0.6389598	0.78912	0.5663145	0.70859	0.6389598	0.78913	-16.627	0.98558	D	0.2749653974319409	0.36928	0.997	0.96661	P	.;.;.;.;.	.;.;.;.;.	5.509133	0.91667	32	0.99753171456923362	0.84460	0.75802	0.37133	D	AEFGBHCI	0.802073	0.72760	D	0.64783777160357	0.76230	6.448015	0.627119779200439	0.76916	6.580068	0.999999992441235	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.491614	0.08109	1	0.638833	0.57524	0	.	.	5.11	5.11	0.69188	6.023000	0.70499	11.385000	0.92635	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	14.389	0.66532	835	0.38313	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000508	0.000000	0.000000	0.002959	0.000000	0.000000	0.003106	0.000000	0.02632	1599.33	36	chr11	117822435	.	G	T	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=756;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.657;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1276	18	0	1	0
chr11	118210600	118210600	T	C	exonic	JAML	.	nonsynonymous SNV	JAML:NM_001286570:exon3:c.A194G:p.Q65R,JAML:NM_001286571:exon3:c.A194G:p.Q65R,JAML:NM_153206:exon3:c.A281G:p.Q94R,JAML:NM_001098526:exon4:c.A311G:p.Q104R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0183037468435	7.7e-05	.	0.0001	0	8.643e-05	0	0	0.0002	0	0	0.0001035	16	154602	rs138252230	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	6.708e-05	0	0	0	0	0.0004	4.967e-05	0	0.0001	0.0001	0.0001	9.413e-05	0.0002	7.576e-05	6.281e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0	0	0	0.0002	0	0	0.3	0.22833	T	0.254	0.52727	T	0.984	0.60733	D	0.957	0.69900	D	0.000137	0.49741	D	0.000000	0.906577	0.36302	D	.	.	.	-0.24	0.66834	T	-1.32	0.40850	N	0.139	0.17278	-0.5444	0.66997	T	0.317	0.68655	T	10	0.31640843	0.49062	T	0.018304	0.40317	T	0.410	0.72176	.	.	0.829592899632	0.82797	0.20123444654611852	0.20040	0.201076596185	0.22511	0.37213203311	0.21138	T	0.00367	0.28431	T	-0.22085	0.17877	T	-0.249036	0.49912	T	0.393158167600632	0.28684	T	0.616838	0.24084	T	0.13139562	0.30629	0.12688021	0.30551	0.13139562	0.30629	0.12688021	0.30551	-5.116	0.38346	T	.	.	0.091	0.14201	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.877498	0.38066	20.6	0.99833593408679	0.91456	0.74689	0.36543	D	AEFBI	0.467075	0.51445	N	0.31260316002089	0.56796	3.844871	0.30417145158018	0.55784	3.741275	0.999976853297696	0.50053	0.549168	0.22868	0	0.588066	0.40923	0	0.468601	0.07175	0	0.616125	0.45549	0	.	.	5.14	4.02	0.45968	0.904000	0.28114	0.382000	0.17791	0.665000	0.62972	1.000000	0.71638	0.553000	0.25478	0.997000	0.79791	0.0:0.0955:0.0:0.9045	7.478	0.26559	416	0.81733	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1428.33	34	chr11	118210600	.	T	C	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=758;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.106;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1222	18	0	1	0
chr11	118264152	118264152	A	G	exonic	MPZL2	.	startloss	MPZL2:NM_005797:exon1:c.T2C:p.M1?,MPZL2:NM_144765:exon1:c.T2C:p.M1?	.	433	1088	1	0	0	1	0.000459348	.	.	YES	3508687	Hearing_loss,_autosomal_recessive_111|MPZL2-related_disorder	MONDO:MONDO:0029142,MedGen:C4748374,OMIM:618145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.642	0.859129820793	7.7e-05	.	0.0001	0.0003	0	0	0	0.0002	0	6.069e-05	0.00011	17	154602	rs371798268	9.235e-05	9.235e-05	7.351e-05	0.0001	6.295e-05	7.958e-05	7.431e-05	5.073e-05	4.653e-05	2.987e-05	0	0.0018	0	0	0	6.295e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	8.073e-05	8.821e-05	7.094e-05	5.75e-05	3.762e-05	2.575e-05	7.242e-05	0	6.545e-05	0.0017	0	0	0	8.821e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.139	0.27501	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.38	0.97369	D	-1.05	0.27463	N	0.903	0.92200	0.629	0.92279	D	0.824	0.94072	D	9	0.5468184	0.64030	D	0.85913	0.98917	D	0.642	0.86384	.	.	0.517983797298	0.51440	0.5386472514543796	0.53789	.	.	.	.	.	0.106917	0.41867	T	0.332172	0.85312	D	0.519	0.94986	D	0.952194809913635	0.63734	D	0.9	0.65058	D	0.94111806	0.95361	0.9453847	0.98114	0.94111806	0.95361	0.9453847	0.98115	-10.614	0.77500	D	.	.	.	.	.	.;.	.;.	3.473138	0.48468	22.6	0.98700309867489955	0.44895	0.80529	0.40143	D	ALL	0.041100	0.06204	N	0.045577589429573	0.43938	2.677189	0.197897758594939	0.49731	3.17294	0.999999999897364	0.74766	0.441713	0.08003	0	0.491552	0.07993	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	5.35	5.35	0.76297	3.503000	0.53100	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.748	0.51097	267	0.89517	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1294.33	43	chr11	118264152	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.808;DP=845;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.32;SOR=0.731	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr11	118379540	118379540	A	G	exonic	UBE4A	.	nonsynonymous SNV	UBE4A:NM_001204077:exon11:c.A1666G:p.N556D,UBE4A:NM_004788:exon11:c.A1687G:p.N563D	.	.	.	.	.	.	.	.	.	.	.	2368772	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0106146138548	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs782354863	6.362e-05	6.362e-05	5.853e-05	6.875e-05	0.0002	5.294e-05	4.911e-05	5.972e-05	5.461e-05	2.987e-05	0	0	0	0	0.0002	7.284e-05	4.967e-05	8.115e-05	3.284e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.579	0.07211	T	0.634	0.07105	T	0.042	0.24078	B	0.037	0.25678	B	0.001873	0.37789	N	0.344071	0.940595	0.37303	D	1.5	0.37844	L	0.96	0.42888	T	-1.03	0.28290	N	0.209	0.27197	-1.0288	0.20843	T	0.087	0.33774	T	10	0.12048197	0.22821	T	0.010615	0.27345	T	0.093	0.26882	0.56	0.67958	0.305252298933	0.30134	0.2102756401995555	0.20943	0.405331388554	0.41430	0.414917230606	0.27136	T	0.069081	0.33621	T	-0.363107	0.03958	T	-0.651698	0.08835	T	0.166937752099871	0.18369	T	0.89491	0.63503	D	0.1159834	0.27363	0.12030401	0.29033	0.1159834	0.27363	0.12030401	0.29032	-5.545	0.42287	T	.	.	0.126	0.33846	B	.;.;.	.;.;.	3.046586	0.40863	21.2	0.99117773562612965	0.52906	0.83969	0.43058	D	AEFDBHCI	0.237477	0.35976	N	-0.107260795081653	0.37075	2.151919	0.0887917169802453	0.43983	2.688965	0.986080985608687	0.31001	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.982000	0.56618	11.172000	0.88004	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	15.661	0.76941	121	0.95159	Ubiquitin conjugation factor E4, core;.;Ubiquitin conjugation factor E4, core	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1608.33	33	chr11	118379540	.	A	G	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.705;DP=773;ExcessHet=0;FS=2.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-2.299;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	18	0	1	0
chr11	118627874	118627874	C	T	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144758:exon6:c.C1051T:p.R351W,PHLDB1:NM_001144759:exon6:c.C1051T:p.R351W,PHLDB1:NM_015157:exon7:c.C1051T:p.R351W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0125664424967	.	0.000199681	0.0004	0	0	0	0	1.554e-05	0	0.0031	0.0003428	53	154602	rs551936081	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	8.963e-05	0	0	0.0002	0	0.0005	9.893e-06	0.0001	0.0037	8.532e-05	8.529e-05	6.422e-05	0.0001	0.0017	4.952e-05	3.958e-05	0.0008	0.0006	7.212e-05	0	0	0	0	0	0	2.94e-05	0	0.0017	0.001	0.78490	D	0.182	0.29249	T	0.997	0.70673	D	0.803	0.58300	P	0.994059	0.08011	N	0.997116	0.673986	0.33170	D	0.205	0.09354	N	1.37	0.34253	T	-1.2	0.31576	N	0.371	0.44283	-1.0596	0.11855	T	0.131	0.44088	T	10	0.013538659	0.00287	T	0.012566	0.31260	T	0.140	0.37593	0.397	0.42426	0.174091166621	0.17034	0.3943218389354682	0.39347	0.237689050953	0.26313	0.635193347931	0.57882	T	0.022375	0.17263	T	-0.389204	0.02723	T	-0.334262	0.40992	T	0.120908959239785	0.14519	T	0.910909	0.68443	D	0.05847974	0.11770	0.08123683	0.18445	0.05847974	0.11769	0.08123683	0.18445	-9.515	0.71226	D	.	.	0.090	0.12512	B	.;.;.	.;.;.	4.432246	0.68737	25.3	0.99902081229877882	0.97350	0.89698	0.50330	D	AEFDBI	0.611340	0.59983	D	-0.019305027149086	0.40981	2.443305	0.0376572576924977	0.41479	2.492659	0.996120701158385	0.34540	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	3.25	0.36363	0.574000	0.23416	1.403000	0.26213	0.596000	0.33519	0.953000	0.33222	1.000000	0.68203	0.999000	0.91618	0.1605:0.7553:0.0:0.0842	7.778	0.28210	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	33	chr11	118627874	.	C	T	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-1.147;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	18	0	1	0
chr11	118903294	118903299	CGCCCC	-	exonic	BCL9L	.	nonframeshift deletion	BCL9L:NM_182557:exon4:c.686_691del:p.G229_G230del,BCL9L:NM_001378214:exon5:c.575_580del:p.G192_G193del,BCL9L:NM_001378213:exon6:c.686_691del:p.G229_G230del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	.	0.0001	0	0	0.0003	0	0.0002	0	0	0.0001153	3	26028	rs559945924	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0001	0.0001	0	0.0002	2.014e-05	0	0.0003	0.0002	0.0001	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.542e-05	0	0.0002	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1941.29	49	chr11	118903293	.	ACGCCCC	A	1941.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=782;ExcessHet=0;FS=0.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.73;ReadPosRankSum=1.15;SOR=0.745	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1328	18	0	1	0
chr11	119081604	119081604	A	C	exonic	VPS11	.	nonsynonymous SNV	VPS11:NM_001290185:exon16:c.A2777C:p.H926P,VPS11:NM_001378218:exon16:c.A2819C:p.H940P,VPS11:NM_001378219:exon16:c.A2819C:p.H940P,VPS11:NM_001378220:exon16:c.A2792C:p.H931P,VPS11:NM_001378221:exon16:c.A2789C:p.H930P,VPS11:NM_021729:exon16:c.A2807C:p.H936P	Leukodystrophy, hypomyelinating, 12, Autosomal recessive	421	1096	5	0	0	5	0.00227583	.	.	.	1577052	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	0.147465154303	0.0014	0.000199681	0.0008	0.0001	0.0005	0	0.0002	0.0012	0.0023	0.0004	0.0007309	113	154602	rs199817725	0.0008	0.0008	0.0008	0.0008	0.0028	0.0008	0.0008	0.0017	0.0014	0.0001	0.0006	0.0019	0	0.0007	0.0028	0.0009	0.0009	0.0004	0.0008	0.0008	0.0007	0.0010	0.0014	0.0007	0.0007	0.0010	0.0008	0.0001	0.0296	0.0014	0.0017	0	0	0	0.0009	0.0010	0.0002	.	.	.	0.03	0.57104	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.42834	.	.	.	.	.	.	.	0.008375287	0.00190	T	0.147465	0.82948	D	.	.	.	.	0.638114607455	0.63514	0.5807914367741649	0.58008	.	.	0.63261783123	0.57517	T	0.013589	0.11722	T	-0.138666	0.30104	T	-0.0175121	0.69193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.09191	B	.;.	.;.	3.314463	0.45555	22.1	0.84270451436812543	0.15194	0.99279	0.93867	D	AEFBI	0.924833	0.90346	D	.	.	.	.	.	.	0.999931482301622	0.46732	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.322829	0.05601	0	.	.	5.69	4.53	0.55009	6.850000	0.75217	9.235000	0.79383	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.8557:0.1443:0.0:0.0	12.050	0.52797	232	0.90957	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.005051	0.001359	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	1615.33	193	chr11	119081604	.	A	C	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.81;DP=1824;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-2.346;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1351	18	0	1	0
chr11	119114228	119114228	T	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382611:exon12:c.T1661G:p.L554R,C2CD2L:NM_001290474:exon13:c.T1772G:p.L591R,C2CD2L:NM_001382612:exon13:c.T1775G:p.L592R,C2CD2L:NM_014807:exon13:c.T1775G:p.L592R,C2CD2L:NM_001382613:exon14:c.T1772G:p.L591R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0293758274713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433868827	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	4.967e-05	3.478e-05	1.316e-05	1.314e-05	1.285e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.468	0.08534	T	0.556	0.09236	T	0.893	0.49136	P	0.578	0.50118	P	0.012542	0.29135	N	0.333690	0.740308	0.33815	D	0.895	0.22405	L	0.37	0.57729	T	0.02	0.06739	N	0.388	0.42931	-0.8464	0.52215	T	0.131	0.44148	T	10	0.18849409	0.34407	T	0.029376	0.51898	D	0.157	0.40909	0.262	0.20631	0.398365109743	0.39450	0.4315959254593735	0.43076	1.17859640205	0.79955	0.650212585926	0.60015	T	0.008016	0.07382	T	-0.0470379	0.44897	T	-0.208489	0.53840	T	0.335770422498854	0.26455	T	0.793521	0.43550	T	0.16053163	0.36000	0.2094491	0.45290	0.16053163	0.35999	0.2094491	0.45290	-4.057	0.24654	T	.	.	0.089	0.17189	B	.;.	.;.	3.751978	0.53785	23.4	0.99398819855149556	0.62702	0.96633	0.70125	D	AEFBI	0.401255	0.47582	N	0.267308133279797	0.54501	3.615395	0.334580037056861	0.57584	3.924624	0.996529630965321	0.34806	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	0.864000	0.27581	6.105000	0.53597	0.665000	0.62972	0.254000	0.24889	1.000000	0.68203	0.923000	0.45890	0.0:0.171:0.0:0.829	6.090	0.19214	230	0.91032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2351.33	40	chr11	119114228	.	T	G	2351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.136;DP=932;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.635;SOR=0.648	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1710	18	0	1	0
chr11	119116025	119116025	C	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382612:exon14:c.C1913G:p.A638G	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0120375693004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0001	2.534e-05	0	0	0.0003	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	60.42	91	chr11	119116025	.	C	G	60.42	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.804;DP=1250;ExcessHet=0.3672;FS=100.253;InbreedingCoeff=-0.147;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.095;SOR=9.779	GT:AD:DP:GQ:PL	0/1:51,18:69:15:15,0,1356	12	0	3	4
chr11	119188754	119188754	G	A	exonic	PDZD3	.	nonsynonymous SNV	PDZD3:NM_001168468:exon9:c.G1174A:p.V392M,PDZD3:NM_024791:exon9:c.G1132A:p.V378M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00758773273577	0.0022	0.00179712	0.0007	0.0070	0.0003	0	0	2.998e-05	0	6.057e-05	0.0006404	99	154602	rs138457857	0.0003	0.0003	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0061	0.0071	0.0008	0	0	0	0.0005	3.417e-05	0.0008	5.797e-05	0.0024	0.0024	0.0024	0.0025	0.0075	0.0022	0.0021	0.0068	0.0066	0.0075	0	0.0031	0	0	0	0.0034	7.351e-05	0.0024	0	0.108	0.29554	T	0.115	0.36630	T	0.111	0.26235	B	0.006	0.16460	B	0.272818	0.03783	N	1.650410	1	0.08975	N	0.145	0.08828	N	1.56	0.73523	T	-0.35	0.13418	N	0.049	0.05929	-1.0392	0.17556	T	0.110	0.39675	T	10	0.0062500834	0.00141	T	0.007588	0.20139	T	0.007	0.00512	.	.	0.28722502521	0.28325	0.25168412177417304	0.25082	0.134525795389	0.15145	0.276849418879	0.07057	T	0.01845	0.14872	T	-0.609491	0.00128	T	-0.643422	0.09421	T	0.00136567950844182	0.00014	T	0.480552	0.14510	T	0.024369843	0.01261	0.035653263	0.02858	0.024369843	0.01261	0.035653263	0.02858	-5.165	0.38594	T	.	.	0.078	0.09868	B	.;.;.;.	.;.;.;.	0.118554	0.05166	1.684	0.89816913332025161	0.19127	0.04319	0.09874	N	AEFDBI	0.139298	0.26085	N	-1.35150717517069	0.03109	0.1383737	-1.38768867687502	0.03382	0.1576601	0.00211795922616294	0.09166	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	-3.85	0.03964	-0.098000	0.10993	-0.254000	0.10482	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.3002:0.2616:0.2052	0.972	0.01328	319	0.87030	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2541.33	35	chr11	119188754	.	G	A	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=901;ExcessHet=0;FS=9.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.672;SOR=1.308	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr11	119206563	119206563	G	A	exonic	CBL	.	nonsynonymous SNV	CBL:NM_005188:exon1:c.G146A:p.G49E	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4119157	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.846140757678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.155e-07	6.84e-07	0	1.451e-06	9.27e-07	0	0	.	.	0	0	0	0	0	0	9.27e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.121	0.36365	T	0.684	0.41517	P	0.605	0.50945	P	0.000051	0.53742	U	0.072627	0.999903	0.50806	D	0.345	0.11182	N	-1.05	0.76690	T	-0.69	0.19720	N	0.515	0.59986	-0.4593	0.70091	T	0.336	0.70297	T	10	0.37293732	0.53615	T	0.846141	0.98812	D	0.331	0.65325	0.394	0.41935	0.916992829997	0.91615	0.44952908983680306	0.44870	1.90210659146	0.92831	0.860991120338	0.91257	D	0.518483	0.83116	D	0.0985358	0.64134	D	-0.0962366	0.63688	T	0.842578828334808	0.49539	D	0.879712	0.59601	D	0.5077878	0.67551	0.4745506	0.69547	0.5077878	0.67552	0.4745506	0.69548	-6.138	0.47420	T	0.3643376849708671	0.46047	0.774	0.76112	P	.;.;.;.	.;.;.;.	4.687205	0.75076	26.3	0.87182149119692964	0.17046	0.59226	0.30857	D	AEFDGBHCI	0.502684	0.53499	D	-0.19451285963135	0.33361	1.891904	-0.270196418784741	0.29085	1.626753	0.999999999999995	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.47417	0.07244	0	0.581474	0.35302	0	.	.	2.95	2.95	0.33285	4.879000	0.62792	10.771000	0.83720	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	12.931	0.57682	350	0.85473	Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB domain;Adaptor protein Cbl, PTB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1431.33	44	chr11	119206563	.	G	A	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=768;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.161;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1083	18	0	1	0
chr11	119298451	119298451	C	T	exonic	CBL	.	nonsynonymous SNV	CBL:NM_005188:exon15:c.C2345T:p.P782L	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	48891	CBL-related_disorder|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy|not_specified|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.271	0.0474887960306	0.0023	0.00219649	0.0007	0.0073	0.0005	0.0002	0	5.994e-05	0	0	0.0007244	112	154602	rs2229073	0.0004	0.0004	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0011	0	0.0005	0	0.0005	0.0001	0.0010	3.478e-05	0.0026	0.0027	0.0026	0.0027	0.0080	0.0024	0.0023	0.0073	0.0070	0.0080	0	0.0033	0	0	0	0.0034	0.0001	0.0033	0.0002	0.001	0.78490	D	0.01	0.74150	D	0.993	0.65571	D	0.632	0.51815	P	0.000000	0.84330	D	0.052811	1	0.81001	D	1.965	0.53209	M	-1.35	0.80035	T	-2.39	0.52612	N	0.783	0.81261	-0.2475	0.76427	T	0.350	0.71431	T	10	0.005753964	0.00128	T	0.047489	0.62943	D	0.271	0.58633	.	.	0.914779128301	0.91391	0.505637641172727	0.50485	0.212166500798	0.23708	0.589475095272	0.51420	T	0.762289	0.93570	D	-0.239845	0.15368	T	-0.111888	0.62460	T	0.0420486456182277	0.04064	T	0.947205	0.79675	D	0.24501328	0.47456	0.24842174	0.50392	0.26479554	0.49548	0.23277397	0.48447	-6.697	0.51788	T	0.5904815405311906	0.65727	0.100	0.42506	B	.;.;.;.;.	.;.;.;.;.	4.311427	0.65908	24.9	0.99752820141582665	0.84382	0.95853	0.66434	D	AEFBI	0.341966	0.43828	N	0.425224270911372	0.62813	4.503553	0.456166120687671	0.65115	4.782993	0.999999998008929	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	5.038000	0.63972	5.955000	0.51719	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.1411:0.8589:0.0:0.0	15.234	0.73106	727	0.54702	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1267.33	33	chr11	119298451	.	C	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=722;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.081;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	18	0	1	0
chr11	119298497	119298499	CTC	-	exonic	CBL	.	nonframeshift deletion	CBL:NM_005188:exon15:c.2391_2393del:p.S799del	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	838076	See_cases|RASopathy|not_specified|Juvenile_myelomonocytic_leukemia|CBL-related_disorder	.|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs755938138	1.437e-05	1.436e-05	1.089e-05	1.788e-05	1.799e-05	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2370.29	33	chr11	119298496	.	GCTC	G	2370.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=752;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=1.41;SOR=1.086	GT:AD:DP:GQ:PL	0/1:59,61:120:99:2384,0,2294	18	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	0	1471	50	1	0	52	0.0173681	.	.	.	254020	Isolated_microphthalmia_5|not_provided|not_specified|Retinal_degeneration	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.028497	0.045455	0.035326	0.031469	0.000000	0.025862	0.015244	0.007576	0.02632	756.33	71	chr11	119342609	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=717;ExcessHet=0;FS=5.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.279;SOR=0.278	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	18	0	1	0
chr11	119420329	119420329	T	C	exonic	THY1	.	nonsynonymous SNV	THY1:NM_001311160:exon3:c.A95G:p.Q32R,THY1:NM_001311162:exon3:c.A95G:p.Q32R,THY1:NM_001372050:exon3:c.A44G:p.Q15R,THY1:NM_006288:exon3:c.A95G:p.Q32R	.	.	.	.	.	.	.	.	.	.	.	3913710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0227458353482	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs202221625	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0002	1.111e-05	9.33e-06	1.295e-05	1.106e-05	0	2.236e-05	0	0	0	0.0002	1.978e-05	0	0	1.314e-05	1.97e-05	0	2.689e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.283	0.22746	T	0.193	0.32144	T	0.692	0.41662	P	0.395	0.44317	B	0.001481	0.38917	N	0.262052	0.659555	0.30461	N	2.585	0.75554	M	1.87	0.24085	T	-1.41	0.36189	N	0.535	0.56317	-0.8604	0.51234	T	0.196	0.55056	T	10	0.21487513	0.38023	T	0.022746	0.45666	T	0.079	0.23065	.	.	0.703466577133	0.70089	0.8004217131425768	0.79996	0.946334139909	0.72422	0.380586028099	0.22339	T	0.193726	0.54928	T	-0.258983	0.13020	T	-0.453422	0.27320	T	0.413637727499008	0.29454	T	0.783222	0.41972	T	0.09926092	0.23424	0.112586	0.27166	0.09926092	0.23424	0.112586	0.27165	-4.841	0.35065	T	.	.	0.117	0.34316	B	.;.;.;.;.	.;.;.;.;.	3.355863	0.46308	22.3	0.98383732411298808	0.40884	0.92812	0.56606	D	AEFDBHCIJ	0.321462	0.42425	N	0.258328498467914	0.54053	3.571818	0.282076988249607	0.54494	3.614125	0.999996744574767	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.98	3.77	0.42499	2.358000	0.43788	6.005000	0.52551	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.1698:0.0:0.0:0.8302	8.668	0.33296	817	0.41665	Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1195.33	34	chr11	119420329	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=744;ExcessHet=0;FS=3.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-1.36;SOR=1.096	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	18	0	1	0
chr11	120127443	120127443	C	G	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.G244C:p.V82L,TRIM29:NM_012101:exon3:c.G1027C:p.V343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00926784353697	0.0010	.	0.0005	0.0002	0.0002	0	0.0002	0.0008	0	0.0006	0.0005433	84	154602	rs146343820	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0008	0.0010	0.0010	0.0001	0.0008	3.826e-05	0	0	0.0002	0.0011	0.0007	0.0006	0.0007	0.0007	0.0006	0.0008	0.0018	0.0006	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0	0.0002	0	0.0009	0	0.0008	0.066	0.51853	T	0.031	0.53788	D	0.056	0.22806	B	0.018	0.18489	B	0.006505	0.31983	N	0.220732	0.711737	0.35761	D	0.695	0.17993	N	1.3	0.35590	T	-1.5	0.38151	N	0.51	0.58458	-1.0487	0.14761	T	0.050	0.21182	T	9	0.03489086	0.01715	T	0.009268	0.24343	T	0.087	0.25287	0.462	0.53079	0.35139820857	0.34749	0.7067975726513646	0.70621	0.222260903106	0.24760	0.379968464375	0.22252	T	0.029629	0.24692	T	-0.410044	0.01986	T	-0.442302	0.28552	T	0.0250724961120335	0.01282	T	0.822218	0.48193	T	0.13121326	0.30592	0.13110828	0.31489	0.13121326	0.30592	0.13110828	0.31488	-2.717	0.07447	T	.	.	0.557	0.69448	A	.;.	.;.	2.354182	0.30184	18.36	0.99269781760206488	0.57525	0.66968	0.33264	D	AEFDBHCI	0.266995	0.38379	N	-0.402862449352135	0.25368	1.376612	-0.24964609624614	0.29784	1.671489	0.999997266783617	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.14	4.23	0.49319	0.455000	0.21555	1.421000	0.26364	0.599000	0.40250	0.351000	0.25767	0.823000	0.27144	0.990000	0.65344	0.0:0.7621:0.0:0.2379	8.188	0.30511	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2427.33	33	chr11	120127443	.	C	G	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=865;ExcessHet=0;FS=0.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.807;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr11	120127515	120127515	G	A	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.C172T:p.R58W,TRIM29:NM_012101:exon3:c.C955T:p.R319W	.	0	225	1	0	0	1	0.00221729	.	.	.	2788811	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.0155325602049	.	0.000199681	2.473e-05	9.621e-05	0	0	0	1.5e-05	0	6.063e-05	3.23e-05	5	154602	rs554063264	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.157e-05	7.712e-05	5.305e-05	0.0002	2.236e-05	0	0	0	0.0002	2.428e-05	0.0001	4.637e-05	2.627e-05	2.625e-05	3.854e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.218e-05	0	0	0	0	0	0	0	0	0.0002	0.01	0.78490	D	0.003	0.83351	D	0.997	0.70673	D	0.635	0.51908	P	0.009271	0.30438	N	0.219940	0.971444	0.40986	D	0.805	0.20218	L	0.96	0.42888	T	-3.98	0.75297	D	0.619	0.68082	-1.0802	0.07310	T	0.090	0.34655	T	9	0.5618267	0.64831	D	0.015533	0.36313	T	0.202	0.48754	.	.	0.344483371355	0.34058	0.7423515054894235	0.74181	0.60843251522	0.55612	0.412424504757	0.26792	T	0.238208	0.65464	T	-0.199455	0.20882	T	-0.342752	0.40032	T	0.545762181282043	0.34319	D	0.935106	0.76420	D	0.15748248	0.35482	0.2010995	0.44073	0.15748248	0.35481	0.2010995	0.44072	-7.021	0.54187	T	.	.	0.213	0.47730	B	.;.	.;.	4.699726	0.75395	26.3	0.99821491403698714	0.90414	0.87712	0.47344	D	AEFBHCI	0.665208	0.63410	D	-0.373480521805087	0.26418	1.441608	-0.403797144461456	0.24886	1.365284	0.999756420513743	0.42595	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	5.14	-2.16	0.06684	2.635000	0.46203	1.899000	0.29569	-0.154000	0.11915	1.000000	0.71638	0.017000	0.20586	0.991000	0.66497	0.0:0.0:0.2334:0.7666	18.129	0.89526	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2073.33	33	chr11	120127515	.	G	A	2073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.214;DP=822;ExcessHet=0;FS=1.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.047;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr11	120229142	120229142	G	C	exonic	OAF	.	stoploss	OAF:NM_178507:exon4:c.G822C:p.X274Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.84e-07	0	1.384e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.158	0.39760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.422142	0.01658	T	-0.844154	0.01038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.234911	0.06159	2.605	0.68999278757594085	0.08832	0.10112	0.15707	N	AEFDBHCI	.	.	.	0.143390769993653	0.48499	3.061455	-0.282192133026185	0.28685	1.601251	0.99998779668301	0.51787	0.183328	0.03972	0	0.255197	0.04854	0	0.110339	0.03155	1	0.156572	0.04068	2	0.0552121	0.12773	3.19	-0.069	0.13086	-0.019000	0.12487	0.720000	0.21004	0.662000	0.56354	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.4424:0.0:0.5576:0.0	5.651	0.16892	389	0.83303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	39	chr11	120229142	.	G	C	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.811;DP=675;ExcessHet=0;FS=1.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.518;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:81:0,81,1215	18	0	1	0
chr11	120477467	120477467	A	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon35:c.A3416T:p.D1139V,ARHGEF12:NM_001301084:exon36:c.A3164T:p.D1055V,ARHGEF12:NM_015313:exon36:c.A3473T:p.D1158V	.	15	1446	58	3	0	64	0.0216509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0031	0.00439297	0.0048	0.0005	0.0025	0.0001	0.0002	0.0035	0.0067	0.0182	0.0042043	650	154602	rs201575311	0.0037	0.0037	0.0031	0.0043	0.0203	0.0036	0.0036	0.0196	0.0192	0.0004	0.0022	0.0235	0	7.678e-05	0.0096	0.0023	0.0054	0.0203	0.0028	0.0028	0.0025	0.0032	0.0216	0.0026	0.0025	0.0182	0.0169	0.0004	0	0.0021	0.0191	0.0002	0	0.0138	0.0029	0.0039	0.0216	0.009	0.59928	D	0.208	0.28300	T	0.034	0.20480	B	0.022	0.19653	B	0.241563	0.15700	N	0.561572	0.939529	0.38304	D	0.345	0.11182	N	-0.28	0.67543	T	-1.62	0.41428	N	0.204	0.25745	-1.0476	0.15073	T	0.125	0.42945	T	10	0.0033547878	0.00058	T	.	.	.	0.050	0.13987	.	.	0.501149612267	0.49752	0.2496823091204487	0.24882	0.0940106955519	0.10614	0.310207843781	0.11939	T	0.084247	0.37235	T	-0.411035	0.01956	T	-0.348263	0.39403	T	0.0149751426948374	0.00320	T	0.89921	0.64678	D	0.07452216	0.16728	0.06666297	0.13687	0.07452216	0.16728	0.06666297	0.13687	-3.925	0.22677	T	.	.	0.067	0.06803	B	.;.;.	.;.;.	2.534783	0.32776	19.14	0.97025346088614595	0.32043	0.89858	0.50600	D	AEFBI	0.289310	0.40099	N	-0.488973155004645	0.22442	1.198325	-0.343221039413463	0.26719	1.477687	0.0721364064759652	0.15591	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.9	1.06	0.19341	2.577000	0.45707	4.475000	0.43511	0.691000	0.84096	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.6004:0.3165:0.0831:0.0	6.031	0.18906	910	0.22284	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013609	0.005051	0.012228	0.008772	0.050000	0.000000	0.015337	0.022727	0.02632	2656.33	40	chr11	120477467	.	A	T	2656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=997;ExcessHet=0;FS=2.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.541;SOR=0.556	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	18	0	1	0
chr11	120819909	120819909	C	G	exonic	GRIK4	.	nonsynonymous SNV	GRIK4:NM_001282470:exon5:c.C500G:p.A167G,GRIK4:NM_001282473:exon6:c.C500G:p.A167G,GRIK4:NM_014619:exon6:c.C500G:p.A167G	.	425	1075	22	0	0	22	0.0101289	.	.	.	701614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.570	.	0.0078	0.00419329	0.0068	0.0016	0.0019	0	0.0064	0.0091	0.0121	0.0074	0.007018	1085	154602	rs41297895	0.0095	0.0095	0.0094	0.0095	0.0108	0.0093	0.0093	0.0106	0.0106	0.0008	0.0022	0.0040	0	0.0079	0.0064	0.0108	0.0073	0.0083	0.0059	0.0059	0.0058	0.0060	0.0094	0.0056	0.0055	0.0088	0.0086	0.0018	0.0011	0.0027	0.0037	0	0.0079	0.0034	0.0094	0.0052	0.0066	0.065	0.36310	T	0.045	0.49390	D	0.792	0.44688	P	0.719	0.54822	P	0.000000	0.84330	D	0.049277	0.999999	0.58761	D	1.995	0.54099	M	-1.68	0.82897	D	-1.49	0.36385	N	0.748	0.74735	0.174	0.85462	D	0.540	0.83037	D	10	0.011505038	0.00251	T	.	.	.	0.570	0.82516	.	.	0.427389866859	0.42359	0.7533756317083357	0.75284	0.826879389278	0.67445	0.785973191261	0.79830	T	0.154789	0.49623	T	-0.236178	0.15841	T	-0.0970931	0.63622	T	0.0471751718353885	0.04996	T	0.852415	0.53747	D	0.27598515	0.50660	0.28353706	0.54347	0.25637498	0.48677	0.28353706	0.54346	-8.486	0.64337	D	0.2306176906730736	0.31204	0.216	0.44605	B	.;.;.	.;.;.	4.927203	0.81204	27.5	0.99758027828383455	0.84851	0.97864	0.77703	D	AEFDBI	0.901267	0.84776	D	0.591667668991544	0.72654	5.839898	0.602303416052797	0.75107	6.252411	0.999992178824111	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.71	4.71	0.59010	7.530000	0.80856	7.621000	0.62310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.855	0.88672	761	0.50382	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	1826.33	148	chr11	120819909	.	C	G	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=799;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.52;SOR=1.025	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr11	121125534	121125534	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon8:c.C1436T:p.P479L,TBCEL-TECTA:NM_001378761:exon14:c.C2393T:p.P798L	.	0	1487	35	0	0	35	0.0116318	.	.	.	175075	Nonsyndromic_genetic_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21|TECTA-related_disorder|not_specified	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|.|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.037	0.00443175879126	0.0018	0.00319489	0.0016	0.0063	0.0005	0	0	0.0001	0.0011	0.0069	0.0014359	222	154602	rs35107075	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0065	0.0062	0.0073	0.0004	0	5.038e-05	0	0.0042	0.0001	0.0010	0.0068	0.0020	0.0020	0.0019	0.0020	0.0058	0.0018	0.0017	0.0052	0.0049	0.0057	0	0.0009	0	0.0002	0	0	0.0002	0.0014	0.0058	0.406	0.10278	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000378	0.45194	D	0.154504	0.984513	0.40156	D	-0.14	0.04484	N	1.44	0.32722	T	0.95	0.01509	N	0.153	0.17553	-1.0500	0.14397	T	0.021	0.08686	T	10	0.0061345994	0.00138	T	0.004432	0.10844	T	0.037	0.09474	.	.	0.566408210792	0.56305	0.6636127240282215	0.66298	0.329196991579	0.35027	0.455033898354	0.32631	T	0.107384	0.41954	T	-0.575478	0.00205	T	-0.595546	0.13189	T	0.0136952726637087	0.00256	T	0.868613	0.57103	D	0.09204862	0.21584	0.08078832	0.18306	0.08642652	0.20087	0.07269823	0.15714	-4.373	0.29188	T	0.1179829029188339	0.10836	0.080	0.07554	B	.;.;.	.;.;.	2.915882	0.38697	20.8	0.92247705218224607	0.21627	0.64403	0.32396	D	AEFDBI	0.156828	0.28225	N	-0.426913657348428	0.24530	1.325126	-0.16779340760244	0.32730	1.864961	0.559409258971178	0.21401	0.553676	0.25195	0	0.59043	0.45803	0	0.624306	0.44879	0	0.620846	0.47308	0	.	.	5.02	5.02	0.66742	1.957000	0.40017	4.859000	0.45451	0.598000	0.34611	0.934000	0.32416	1.000000	0.68203	0.995000	0.73285	0.0:0.8739:0.0:0.1261	10.059	0.41434	783	0.47268	von Willebrand factor, type D domain;von Willebrand factor, type D domain;von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	2924.33	33	chr11	121125534	.	C	T	2924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=828;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.559;SOR=0.603	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1220	18	0	1	0
chr11	121153070	121153070	A	G	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon13:c.A4295G:p.K1432R,TBCEL-TECTA:NM_001378761:exon19:c.A5252G:p.K1751R	.	.	.	.	.	.	.	.	.	.	.	867367	Autosomal_recessive_nonsyndromic_hearing_loss_21|TECTA-related_disorder|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_12	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|.|MedGen:C3661900|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.175	0.0128157243644	.	0.000798722	0.0007	0.0001	0	0	0	0	0	0.0049	0.000511	79	154602	rs530918606	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.988e-05	0	0	0.0002	0	0	4.497e-06	0.0002	0.0051	0.0002	0.0002	5.138e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	7.215e-05	0	0	0	0	0	0	0	0	0.0054	0.543	0.06735	T	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.797888	0.34472	D	-0.71	0.01811	N	3.54	0.04799	T	-0.41	0.14000	N	0.41	0.45047	-0.8500	0.51968	T	0.020	0.08266	T	10	0.011598736	0.00253	T	0.012816	0.31723	T	0.175	0.44197	0.424	0.46857	0.59496020979	0.59174	0.14176989411148638	0.14099	0.288609674258	0.31261	0.614304423332	0.54924	T	0.077023	0.35556	T	-0.513135	0.00482	T	-0.508906	0.21428	T	0.086875888833087	0.10843	T	0.848415	0.52967	T	0.090684846	0.21227	0.11895681	0.28714	0.097531796	0.22990	0.10837117	0.26105	-2.727	0.07532	T	0.2226579595401887	0.30045	0.101	0.17657	B	.;.;.	.;.;.	3.329827	0.45838	22.2	0.99037517965722421	0.50939	0.91940	0.54593	D	AEFBI	0.364273	0.45287	N	0.139405804944767	0.48309	3.044949	0.162837530658978	0.47826	3.007079	0.0361894899102267	0.14234	0.487112	0.14033	0	0.563428	0.19063	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.33	4.13	0.47661	3.123000	0.50147	8.050000	0.76353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	0.8549:0.1451:0.0:0.0	11.941	0.52188	764	0.49969	TILa domain|VWFC domain;TILa domain|VWFC domain;TILa domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	618.33	34	chr11	121153070	.	A	G	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=678;ExcessHet=0;FS=10.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.99;SOR=0.114	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	18	0	1	0
chr11	121574249	121574249	A	G	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon24:c.A3346G:p.I1116V	.	421	1085	16	0	0	16	0.0073193	.	.	.	1156624	SORL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	0.0822397341311	0.0061	0.00239617	0.0051	0.0012	0.0031	0	0.0027	0.0068	0.0044	0.0058	0.0053751	831	154602	rs62617129	0.0081	0.0081	0.0081	0.0081	0.0094	0.0080	0.0079	0.0092	0.0092	0.0009	0.0026	0.0046	5.04e-05	0.0034	0.0035	0.0094	0.0074	0.0058	0.0057	0.0057	0.0060	0.0053	0.0095	0.0054	0.0052	0.0089	0.0087	0.0019	0.0274	0.0028	0.0029	0	0.0017	0	0.0095	0.0043	0.0077	1.0	0.00964	T	0.661	0.06490	T	0.0	0.02946	B	0.002	0.06944	B	0.963579	0.08207	N	0.984335	1	0.08975	N	-0.85	0.01485	N	-2.74	0.95387	D	0.52	0.03140	N	0.066	0.06322	-0.6151	0.64192	T	0.468	0.79492	T	10	0.007873625	0.00179	T	0.08224	0.73858	D	0.335	0.65718	.	.	0.345175991111	0.34120	0.12264107343781454	0.12190	0.209146922037	0.23382	0.265253186226	0.05533	T	0.102557	0.41040	T	-0.451359	0.01109	T	-0.408148	0.32440	T	0.00104654691590231	0.00010	T	0.613939	0.25008	T	0.017262924	0.00259	0.03384084	0.02348	0.017262924	0.00259	0.03384084	0.02348	-2.201	0.04045	T	.	.	0.055	0.00405	B	.;.	.;.	-0.745753	0.01219	0.061	0.42126843348868692	0.03084	0.08734	0.14620	N	AEFGBCI	0.075342	0.15127	N	-1.36394519108401	0.02983	0.1325446	-1.30817208194828	0.04324	0.2036898	0.999997346669586	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-5.57	0.02321	-0.519000	0.06345	-2.096000	0.04219	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.3922:0.0:0.6078:0.0	17.073	0.86456	880	0.29376	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	952.33	59	chr11	121574249	.	A	G	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=742;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-2.759;SOR=0.58	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr11	122934723	122934723	A	G	exonic	JHY	.	nonsynonymous SNV	JHY:NM_001363088:exon4:c.A1168G:p.R390G,JHY:NM_001363087:exon5:c.A1282G:p.R428G,JHY:NM_001363089:exon5:c.A1282G:p.R428G,JHY:NM_024806:exon5:c.A1282G:p.R428G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00660665877842	0.0002	0.00119808	0.0005	0	0.0003	0	0.0003	0.0005	0.0022	0.0008	0.0004334	67	154602	rs147942957	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0005	0.0019	0.0015	0.0001	0.0008	0.0002	0	0.0002	0.0029	0.0006	0.0011	0.0007	0.0008	0.0008	0.0008	0.0007	0.0031	0.0006	0.0006	0.0024	0.0021	0.0002	0	0.0031	0	0.0002	0.0002	0.0034	0.0008	0.0024	0.0002	0.07	0.35349	T	0.265	0.22694	T	0.0	0.02946	B	0.001	0.04355	B	0.199687	0.16632	N	0.603346	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.54	0.16598	N	0.044	0.01658	-1.0435	0.16265	T	0.055	0.23262	T	10	0.0059680045	0.00134	T	0.006607	0.17444	T	0.017	0.02790	.	.	0.258779203287	0.25495	0.10641739019452219	0.10571	0.136142029518	0.15352	.	.	.	0.061165	0.31583	T	-0.635116	0.00089	T	-0.741424	0.03831	T	0.0157627614083712	0.00366	T	0.480052	0.14488	T	0.09267533	0.21746	0.10441056	0.25077	0.09267533	0.21746	0.10441056	0.25076	-3.362	0.14550	T	.	.	0.072	0.04198	B	.;.	.;.	-0.026513	0.04101	0.967	0.42305550583805468	0.03109	0.04888	0.10633	N	AEFDGBI	0.063773	0.12344	N	-0.902246576859752	0.10789	0.5173455	-0.924995130876081	0.11505	0.586516	7.60761001651767E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.46	1.84	0.24348	0.062000	0.14264	0.703000	0.20862	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.7374:0.0:0.2626:0.0	7.145	0.24754	720	0.55521	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	2212.33	33	chr11	122934723	.	A	G	2212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.577;DP=775;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.907;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	18	0	1	0
chr11	123606675	123606675	A	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon10:c.A841G:p.I281V,GRAMD1B:NM_020716:exon10:c.A961G:p.I321V,GRAMD1B:NM_001286563:exon11:c.A982G:p.I328V,GRAMD1B:NM_001330396:exon11:c.A841G:p.I281V,GRAMD1B:NM_001367418:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367419:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367420:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367421:exon12:c.A1258G:p.I420V	.	433	1064	24	1	0	26	0.0120706	.	.	.	2809962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00961510552212	0.0006	0.00179712	0.0018	0	0	0	0	0.0017	0.0094	0.006	0.0015006	232	154602	rs191981781	0.0010	0.0011	0.0008	0.0013	0.0123	0.0010	0.0010	0.0100	0.0092	0.0001	0.0002	0.0186	0	0	0.0123	0.0003	0.0025	0.0052	0.0009	0.0009	0.0009	0.0009	0.0060	0.0008	0.0007	0.0043	0.0037	7.217e-05	0	0.0007	0.0159	0	0	0.0137	0.0004	0.0014	0.0060	0.607	0.06243	T	0.592	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.019927	0.27150	N	0.428098	1	0.08975	N	.	.	.	2.03	0.28391	T	0.08	0.06026	N	0.104	0.11197	-1.0079	0.27572	T	0.031	0.13155	T	10	0.0061226487	0.00138	T	0.009615	0.25130	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.1719730501957236	0.17117	0.305991248268	0.32896	0.398189902306	0.24816	T	0.001756	0.05765	T	-0.617935	0.00113	T	-0.659306	0.08313	T	0.0248547319038031	0.01253	T	0.857114	0.54640	D	0.024626387	0.01313	0.038432624	0.03710	0.024626387	0.01313	0.038432624	0.03709	-2.676	0.07103	T	.	.	0.059	0.00979	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.934568	0.24574	16.45	0.94048183895678528	0.24174	0.64600	0.32460	D	AEFBI	0.093052	0.18832	N	-0.589042774167135	0.19277	1.007591	-0.379683269647464	0.25603	1.409017	0.0222097322305338	0.13412	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.25	2.71	0.31092	2.542000	0.45403	4.496000	0.43591	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.817000	0.38496	0.7174:0.2826:0.0:0.0	11.592	0.50207	713	0.56348	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.020202	0.005435	0.017544	0.000000	0.008621	0.015244	0.003788	0.02632	2695.33	39	chr11	123606675	.	A	G	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.49;DP=1026;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.317;SOR=0.95	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr11	123728190	123728190	T	C	exonic	ZNF202	.	nonsynonymous SNV	ZNF202:NM_001301819:exon4:c.A103G:p.K35E,ZNF202:NM_001301780:exon5:c.A775G:p.K259E,ZNF202:NM_001301779:exon6:c.A775G:p.K259E,ZNF202:NM_003455:exon7:c.A775G:p.K259E	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0058	0.00359425	0.0043	0.0016	0.0007	0	0.0009	0.0071	0	0.0010	0.0048124	744	154602	rs61767139	0.0081	0.0081	0.0083	0.0078	0.0100	0.0079	0.0079	0.0099	0.0098	0.0012	0.0014	0.0002	0	0.0009	0.0009	0.0100	0.0057	0.0013	0.0052	0.0052	0.0060	0.0043	0.0096	0.0049	0.0048	0.0090	0.0087	0.0019	0.0066	0.0020	0	0	0.0006	0	0.0096	0.0043	0.0010	0.195	0.20759	T	0.172	0.30241	T	0.262	0.31549	B	0.285	0.40506	B	0.000092	0.51296	D	0.000000	0.903171	0.36221	D	2.94	0.84723	M	4.13	0.02865	T	-1.93	0.44852	N	0.588	0.61002	-1.1272	0.01921	T	0.011	0.04274	T	10	0.009696603	0.00218	T	.	.	.	0.141	0.37795	.	.	0.384752662912	0.38087	0.40315398828575216	0.40231	0.570378327537	0.53198	0.613236248493	0.54774	T	0.11034	0.42496	T	-0.45885	0.00999	T	-0.422487	0.30791	T	0.0921440124511719	0.11469	T	0.712729	0.32446	T	0.21344644	0.43724	0.23858613	0.49185	0.21344644	0.43723	0.23858613	0.49184	-8.298	0.63082	D	.	.	0.731	0.74807	P	.;.;.	.;.;.	3.973103	0.58349	24.0	0.99904504618880852	0.97576	0.96851	0.71283	D	AEFBI	0.301374	0.40992	N	0.210482075387066	0.51706	3.349831	0.277496391296268	0.54230	3.588469	0.999466758165409	0.39843	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	1.766000	0.38121	3.394000	0.38086	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.845	0.57208	800	0.44535	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1743.33	35	chr11	123728190	.	T	C	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=757;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.154;SOR=0.585	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1389	18	0	1	0
chr11	123883161	123883161	G	A	exonic	TMEM225	.	nonsynonymous SNV	TMEM225:NM_001013743:exon4:c.C655T:p.R219C,TMEM225:NM_001363605:exon4:c.C505T:p.R169C	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.00414493850515	.	0.000998403	0.0012	0.0003	0.0003	0	0	6.001e-05	0.0011	0.0085	0.0010479	162	154602	rs201383725	0.0006	0.0006	0.0003	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	2.992e-05	2.238e-05	0	0	0	0.0024	3.059e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0	0	0	7.352e-05	0	0.0070	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000362	0.45194	D	0.000000	0.999999	0.08975	N	.	.	.	1.17	0.37910	T	-7.09	0.93950	D	0.258	0.29197	-1.0257	0.21853	T	0.052	0.22114	T	10	0.006457418	0.00146	T	0.004145	0.09931	T	0.175	0.44197	0.533	0.64148	0.082315109003	0.07666	0.17085404347730407	0.17005	0.174624828113	0.19662	0.419091820717	0.27712	T	.	.	.	-0.436273	0.01360	T	-0.392488	0.34261	T	0.167498312760511	0.18409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31381	B	.	.	3.361952	0.46415	22.3	0.95693108330412957	0.27572	0.02624	0.07210	N	AEFI	0.051674	0.09152	N	-0.596918522863486	0.19038	0.9932723	-0.673246039519624	0.17631	0.9383694	1.16492165728706E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	2.98	0.33575	1.273000	0.32724	1.854000	0.29277	0.676000	0.76740	0.009000	0.18154	0.012000	0.20211	0.001000	0.02609	0.1179:0.0:0.8821:0.0	7.407	0.26166	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.026515	0.02632	541.33	43	chr11	123883161	.	G	A	541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=626;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.397;SOR=0.33	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1216	18	0	1	0
chr11	124023058	124023058	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C46T:p.P16S	.	424	1074	23	1	0	25	0.0115048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0016	0.00359425	0.0035	0	0.0012	0	0	0.0031	0.0055	0.0121	0.0030207	467	154602	rs141446565	0.0024	0.0024	0.0021	0.0028	0.0106	0.0024	0.0024	0.0101	0.0098	0.0003	0.0013	0.0277	0	0	0.0066	0.0014	0.0037	0.0106	0.0017	0.0017	0.0014	0.0020	0.0108	0.0015	0.0014	0.0084	0.0076	0.0003	0	0.0010	0.0230	0	0	0.0034	0.0013	0.0019	0.0108	0.37	0.11550	T	0.715	0.05434	T	0.078	0.24389	B	0.164	0.34953	B	0.004593	0.33588	N	0.136740	0.746328	0.29683	N	-0.165	0.04321	N	7.46	0.00389	T	-1.2	0.30555	N	0.076	0.05037	-1.0218	0.23129	T	0.000	0.00152	T	10	0.0073650777	0.00167	T	.	.	.	0.062	0.17934	.	.	0.143124449307	0.13826	0.16278654458662975	0.16198	0.425027138028	0.42916	0.216108947992	0.01097	T	0.003	0.02708	T	-0.59376	0.00159	T	-0.616277	0.11480	T	0.0144571563771254	0.00292	T	0.227177	0.03016	T	0.04062003	0.05833	0.050784115	0.08042	0.04062003	0.05833	0.050784115	0.08042	-2.928	0.09426	T	.	.	0.144	0.31733	B	.	.	1.536149	0.19703	14.40	0.50710633347697687	0.04432	0.16363	0.19354	N	AEFI	0.081623	0.16518	N	-1.16447645677521	0.05545	0.2530935	-1.11774098304783	0.07361	0.3577643	1.20610408998942E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	2.41	0.28644	-0.247000	0.08884	-5.208000	0.01806	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.5946:0.2816:0.1238	5.317	0.15167	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004343	0.005435	0.002717	0.000000	0.000000	0.000000	0.006369	0.019685	0.02632	3461.33	45	chr11	124023058	.	C	T	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=1305;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.88;MQRankSum=1.72;QD=11.2;ReadPosRankSum=0.842;SOR=0.67	GT:AD:DP:GQ:PL	0/1:162,147:309:99:3475,0,4168	18	0	1	0
chr11	124023543	124023543	G	C	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.G531C:p.L177F	.	427	1082	12	1	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00379393	0.0037	0.0008	0.0006	0.0001	0.0002	0.0003	0.0022	0.0248	0.0011526	30	26028	rs200638744	0.0008	0.0009	0.0004	0.0012	0.0114	0.0007	0.0007	0.0108	0.0106	0.0002	0.0003	0.0004	0.0003	1.872e-05	0.0003	7.465e-05	0.0007	0.0114	0.0009	0.0010	0.0007	0.0011	0.0181	0.0008	0.0007	0.0151	0.0139	0.0003	0	0.0003	0.0012	0.0002	0.0002	0	0.0003	0	0.0181	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.004324	0.33859	N	0.135321	0.998187	0.22304	N	-2.515	0.00055	N	8.98	0.00021	T	5.35	0.00017	N	0.061	0.03283	-0.9347	0.43439	T	0.000	0.00039	T	10	0.020216435	0.00462	T	.	.	.	0.076	0.22200	0.546	0.66015	0.134241683229	0.13084	0.06196820912626835	0.06136	0.312039881988	0.33506	0.216165393591	0.01100	T	8.18E-4	0.00397	T	-0.316559	0.07183	T	-0.692492	0.06246	T	0.0133953807687383	0.00242	T	0.070293	0.00512	T	0.030525284	0.02731	0.04064943	0.04443	0.030525284	0.02731	0.04064943	0.04442	0.309	0.00256	T	.	.	0.082	0.08609	B	.	.	-0.366656	0.02340	0.252	0.10103929153222818	0.00119	0.03072	0.07984	N	AEFI	0.023300	0.01279	N	-1.72417410480341	0.00759	0.03280036	-1.51075349804304	0.02261	0.1037168	2.41365754748268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.48	0.483	0.16030	1.090000	0.30514	-11.923000	0.00564	-3.524000	0.00079	0.989000	0.36753	0.000000	0.08366	0.000000	0.00833	0.0:0.6213:0.29:0.0888	9.126	0.35977	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2793.33	473	chr11	124023543	.	G	C	2793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.2;DP=4565;ExcessHet=0;FS=33.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.92;MQRankSum=-17.35;QD=6.56;ReadPosRankSum=-1.308;SOR=2.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,91:426:99:0|1:124023540_T_C:2807,0,13772:124023540	18	0	1	0
chr11	124023688	124023688	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C676T:p.R226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00181638638885	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs770016884	1.026e-05	1.026e-05	8.168e-06	1.238e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-06	0	5.797e-05	6.577e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.832	0.59730	P	0.627629	0.10718	N	0.805161	1	0.08975	N	3.655	0.94224	H	8.37	0.00247	T	-5.79	0.88065	D	0.266	0.30118	-0.9544	0.40203	T	0.002	0.00585	T	10	0.28207338	0.45786	T	0.001816	0.03115	T	0.070	0.20419	0.432	0.48171	0.652918622136	0.65003	0.3873138145812285	0.38646	0.909016350626	0.70977	0.186228781939	0.00165	T	0.009129	0.08331	T	-0.28781	0.09858	T	-0.448541	0.27859	T	0.699711727448611	0.40705	D	0.367163	0.08573	T	0.23927706	0.46816	0.2424058	0.49661	0.23927706	0.46816	0.2424058	0.49660	-7.049	0.54390	T	.	.	0.178	0.38889	B	.	.	2.986991	0.39860	21.1	0.99727385111650657	0.82477	0.07250	0.13273	N	AEFDI	0.097194	0.19607	N	-0.084404063653568	0.38076	2.224597	-0.312471543910937	0.27695	1.538649	2.99771349585806E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.44	2.3	0.27735	-0.031000	0.12237	-2.091000	0.04227	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8014:0.1986:0.0:0.0	9.014	0.35321	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6358.33	43	chr11	124023688	.	C	T	6358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.365;DP=3391;ExcessHet=0;FS=4.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.991;QD=18.65;ReadPosRankSum=0.597;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,111,1665:.	18	0	1	0
chr11	124122974	124122974	G	T	exonic	VWA5A	.	nonsynonymous SNV	VWA5A:NM_014622:exon7:c.G775T:p.D259Y,VWA5A:NM_198315:exon7:c.G775T:p.D259Y,VWA5A:NM_001130142:exon8:c.G775T:p.D259Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0292116005188	.	.	4.167e-05	0	8.654e-05	0	0	0	0	0.0003	3.23e-05	5	154602	rs763678720	1.574e-05	1.573e-05	8.171e-06	2.339e-05	0.0002	1.048e-05	8.76e-06	0.0002	0.0001	0	0	0	0	0	0	8.994e-07	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.95	0.68788	D	0.015291	0.28288	N	0.420672	0.99933	0.46701	D	2.935	0.84639	M	3.64	0.19020	T	-5.7	0.88963	D	0.534	0.56748	-0.9525	0.40538	T	0.137	0.45299	T	10	0.52292174	0.62745	D	0.029212	0.51759	D	0.213	0.50496	0.414	0.45216	0.177238962908	0.17366	0.40715699389665	0.40631	0.267502293353	0.29292	0.319076061249	0.13281	T	0.154001	0.51496	T	-0.283006	0.10352	T	-0.343971	0.39895	T	0.812065720558167	0.47195	D	0.962304	0.85835	D	0.10104251	0.23864	0.1391794	0.33216	0.10104251	0.23864	0.1391794	0.33216	-9.213	0.69057	D	.	.	0.116	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.411584	0.47324	22.4	0.97884446136792769	0.36628	0.92721	0.56383	D	AEFDBCI	0.385211	0.46604	N	-0.0306393556702856	0.40470	2.404009	-0.152214584995687	0.33324	1.904968	0.997055043738393	0.35233	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	4.09	0.47038	4.853000	0.62610	.	.	-0.785000	0.03297	1.000000	0.71638	0.999000	0.35428	0.055000	0.15596	0.0754:0.139:0.7857:0.0	10.004	0.41118	768	0.49510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	962.33	33	chr11	124122974	.	G	T	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.622;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	445.14	249	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	445.14	.	AC=1;AF=0.038;AN=26;BaseQRankSum=5.43;DP=2175;ExcessHet=0;FS=57.898;InbreedingCoeff=-0.04;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=-3.738;SOR=5.14	GT:AD:DP:GQ:PL	0/0:225,0:225:99:0,120,1800	12	0	1	6
chr11	124265668	124265668	C	T	exonic	OR8G5	.	nonsynonymous SNV	OR8G5:NM_001005198:exon2:c.C737T:p.S246L	.	426	1011	84	1	0	86	0.040797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026877241706	.	.	2.483e-05	0	0	0	0	4.495e-05	0	0	3.84e-05	1	26028	rs781035719	3.119e-05	0.0042	2.482e-05	3.764e-05	0.0002	2.378e-05	2.123e-05	0.0001	7.347e-05	3.014e-05	4.633e-05	0	0.0002	1.904e-05	0.0002	2.638e-05	3.354e-05	1.18e-05	2.631e-05	0.0001	0	5.386e-05	0.0004	8.15e-06	5.14e-06	6.842e-05	2.863e-05	2.415e-05	0	0	0	0.0004	9.432e-05	0	0	0	0	.	.	.	0.338	0.18125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.835	0.01514	N	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.03151378	0.01287	T	0.002688	0.05521	T	.	.	.	.	0.043077524339	0.03247	0.09648603687337697	0.09580	0.10428141844	0.11793	.	.	.	0.001883	0.01299	T	-0.352944	0.04545	T	-0.519055	0.20390	T	.	.	.	0.581942	0.21082	T	0.07538201	0.16979	0.19969355	0.43863	0.07538201	0.16979	0.19969355	0.43862	-1.584	0.01945	T	.	.	0.059	0.00742	B	.;.;.	.;.;.	-0.217402	0.03003	0.454	0.81041737269415304	0.13491	0.01391	0.04726	N	AEFI	0.033296	0.03920	N	.	.	.	.	.	.	0.00400774281811979	0.10376	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.22	-7.67	0.01133	-1.073000	0.03541	.	.	-1.080000	0.01570	0.000000	0.06391	0.000000	0.08366	0.406000	0.26916	0.0:0.2669:0.1005:0.6326	10.388	0.43335	745	0.52414	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2646.33	188	chr11	124265668	.	C	T	2646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=2057;ExcessHet=0;FS=6.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=-3.435;QD=13.86;ReadPosRankSum=0.626;SOR=0.516	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	124649653	124649653	G	A	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon5:c.C688T:p.R230W,SIAE:NM_001199922:exon7:c.C583T:p.R195W	.	.	.	.	.	.	.	.	.	.	.	1009571	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.841	0.350217127194	.	0.000199681	0.0004	9.61e-05	0.0003	0	0	0.0003	0.0011	0.0015	0.0003363	52	154602	rs200862001	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	5.974e-05	0.0002	0.0022	5.038e-05	0	0.0007	9.892e-05	0.0003	0.0018	0.0002	0.0003	0.0003	0.0002	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0001	0.0035	0	0	0	0.0002	0.0009	0.0021	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999186	0.46274	D	3.095	0.87515	M	-3.52	0.94729	D	-4.89	0.81431	D	0.947	0.96302	0.910	0.95819	D	0.890	0.96351	D	10	0.7243194	0.73871	D	0.350217	0.92248	D	0.841	0.95026	.	.	0.858440187312	0.85707	0.7544206466585838	0.75389	0.617627004066	0.56194	0.441908359528	0.30839	T	0.824583	0.95747	D	0.161506	0.70341	D	0.429136	0.93024	D	0.25204958524322	0.22964	T	0.950105	0.81346	D	0.7610418	0.81514	0.7350202	0.84339	0.8135956	0.84793	0.8041965	0.88534	-7.422	0.57059	T	.	.	0.125	0.41723	B	.;.;.	.;.;.	4.343371	0.66645	25.0	0.99858662302072121	0.93729	0.50324	0.28636	D	AEFI	0.234032	0.35685	N	0.116106140688419	0.47215	2.950267	-0.0224389338990331	0.38703	2.284085	1.41788050464432E-4	0.05573	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.22	1.53	0.22224	1.247000	0.32417	.	.	-0.140000	0.12423	0.885000	0.31090	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.4472:0.5528	13.076	0.58502	605	0.67457	Sialate O-acetylesterase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	999.33	33	chr11	124649653	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=722;ExcessHet=0;FS=3.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-2.243;SOR=0.42	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1347	18	0	1	0
chr11	124694413	124694413	T	-	exonic	SPA17	.	frameshift deletion	SPA17:NM_017425:exon5:c.423delT:p.L142Ffs*23	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3732.77	44	chr11	124694412	.	GT	G	3732.77	.	AC=2;AF=0.053;AN=38;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.47;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	1	0	0
chr11	124870663	124870663	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_022370:exon6:c.C968T:p.T323M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	313034	Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1|ROBO3-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.032083336353	0.0015	0.00239617	0.0027	0.0003	0.0016	0.0001	0	0.0025	0.0052	0.0074	0.0022898	354	154602	rs151168595	0.0023	0.0023	0.0021	0.0024	0.0078	0.0022	0.0022	0.0060	0.0054	0.0003	0.0013	0.0071	5.039e-05	9.366e-05	0.0078	0.0021	0.0026	0.0060	0.0016	0.0016	0.0015	0.0016	0.0079	0.0014	0.0013	0.0059	0.0052	0.0004	0.0154	0.0008	0.0049	0	9.414e-05	0.0034	0.0020	0.0019	0.0079	0.022	0.48642	D	0.086	0.40909	T	0.997	0.70673	D	0.903	0.64103	P	0.001972	0.37549	N	0.000000	0.99998	0.54805	D	0.76	0.19266	N	-0.31	0.68030	T	-4.29	0.76414	D	0.494	0.54059	-0.3692	0.72986	T	0.376	0.73416	T	10	0.017130792	0.00364	T	0.032083	0.54006	D	0.317	0.63904	.	.	0.80569185795	0.80387	0.4394931041958056	0.43866	0.196689076968	0.22038	0.434984266758	0.29891	T	0.321641	0.69271	T	-0.330571	0.06068	T	-0.244451	0.50362	T	0.0478758717306086	0.05121	T	0.920008	0.71084	D	0.20085593	0.42075	0.3062838	0.56653	0.21977215	0.44517	0.30479282	0.56506	-7.501	0.57617	D	.	.	0.130	0.27762	B	.;.	.;.	4.538391	0.71308	25.7	0.99912849263067272	0.98167	0.96841	0.71229	D	AEFDBI	0.745310	0.68802	D	0.466704894550722	0.65156	4.78731	0.417104854761136	0.62631	4.481685	0.99999995657008	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.21	4.21	0.48984	6.105000	0.71165	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	16.700	0.85206	712	0.56465	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.005848	0.000000	0.017241	0.027439	0.011364	0.02632	1397.33	60	chr11	124870663	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.247;DP=1060;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.44;SOR=0.585	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr11	124876026	124876026	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_022370:exon16:c.C2494T:p.L832F	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0732329524063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227108770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.075	0.43159	T	0.003	0.11197	B	0.021	0.19346	B	0.046899	0.23395	N	0.213470	0.805523	0.29063	N	2.515	0.73286	M	0.16	0.60610	T	-1.68	0.40082	N	0.306	0.34552	-0.8148	0.54257	T	0.190	0.54138	T	10	0.30091673	0.47637	T	0.073233	0.71736	D	0.137	0.36984	0.667	0.80502	0.674474796302	0.67171	0.5442881839043433	0.54354	0.104148278911	0.11784	0.555914819241	0.46690	T	0.222507	0.58638	T	-0.136008	0.30528	T	-0.433142	0.29580	T	0.209595143795013	0.20932	T	0.518348	0.16810	T	0.19078591	0.40678	0.10549066	0.25360	0.19078591	0.40678	0.10549066	0.25359	-6.236	0.48213	T	.	.	0.378	0.61171	A	.;.	.;.	2.305360	0.29507	18.14	0.95124592276894282	0.26227	0.85006	0.44106	D	AEFDGBHCI	0.325022	0.42673	N	-0.302551531754495	0.29052	1.607638	-0.26519157206288	0.29253	1.637469	0.99999999874355	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.07	4.14	0.47821	1.213000	0.32011	.	.	0.599000	0.40250	0.999000	0.42656	0.997000	0.33255	0.500000	0.29017	0.1641:0.7491:0.0:0.0868	7.530	0.26845	712	0.56465	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	33	chr11	124876026	.	C	T	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=739;ExcessHet=0;FS=57.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=-2.064;SOR=5.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,45:45:99:2025,136,0	11	2	6	0
chr11	124887133	124887133	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon15:c.C1844T:p.P615L,ROBO4:NM_019055:exon15:c.C2279T:p.P760L	.	397	1095	27	3	0	33	0.0148448	.	.	.	2852051	ROBO4-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0038	0.0061901	0.0052	0.0004	0.0029	0.0003	0.0011	0.0045	0.0092	0.0169	0.0049999	773	154602	rs146276743	0.0050	0.0050	0.0045	0.0055	0.0171	0.0049	0.0049	0.0164	0.0161	0.0007	0.0022	0.0136	7.557e-05	0.0019	0.0080	0.0044	0.0061	0.0171	0.0039	0.0039	0.0038	0.0039	0.0137	0.0036	0.0035	0.0110	0.0101	0.0008	0	0.0039	0.0141	0.0004	0.0008	0.0034	0.0053	0.0052	0.0137	0.124	0.34621	T	0.056	0.46632	T	0.001	0.07471	B	0.001	0.04355	B	0.857056	0.07093	N	1.099000	0.961538	0.28344	N	1.095	0.27400	L	-0.09	0.64086	T	-0.72	0.38540	N	0.095	0.13055	-0.9629	0.38625	T	0.126	0.43194	T	10	0.0053919554	0.00118	T	.	.	.	0.068	0.19811	.	.	0.726765420178	0.72434	0.4307432230054054	0.42991	0.311846561494	0.33486	0.324699938297	0.14132	T	0.076017	0.35318	T	-0.545079	0.00312	T	-0.541465	0.18154	T	0.00982392410411275	0.00129	T	0.768023	0.39669	T	0.059982676	0.12254	0.053915348	0.09172	0.06661468	0.14349	0.053915348	0.09171	-3.713	0.19510	T	0.2919736196309515	0.38863	0.092	0.13503	B	.;.	.;.	2.522208	0.32594	19.09	0.9924386738709855	0.56630	0.61351	0.31459	D	AEFDBCI	0.176861	0.30409	N	-0.570417262163298	0.19849	1.041997	-0.497944637819832	0.22211	1.205256	0.998964941772589	0.38084	0.722319	0.85440	0	0.59043	0.45803	0	0.59043	0.30614	0	0.735409	0.98432	0	.	.	4.35	3.44	0.38486	1.090000	0.30514	.	.	0.674000	0.70861	0.876000	0.30908	1.000000	0.68203	0.033000	0.13494	0.103:0.0:0.897:0.0	9.307	0.37040	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.004076	0.002924	0.000000	0.008621	0.012195	0.030303	0.02632	863.33	34	chr11	124887133	.	G	A	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=726;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.869;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	18	0	1	0
chr11	124923361	124923361	G	A	exonic	HEPACAM	.	nonsynonymous SNV	HEPACAM:NM_152722:exon4:c.C782T:p.A261V	Megalencephalic leukoencephalopathy with subcortical cysts 2A, Autosomal recessive;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3763407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00910834850007	7.7e-05	.	4.947e-05	0	0	0	0	7.498e-05	0	6.056e-05	3.88e-05	6	154602	rs147015297	3.081e-05	3.078e-05	2.316e-05	3.853e-05	0.0001	2.349e-05	2.096e-05	5.396e-05	4.042e-05	0	0	0	0	0	0	2.79e-05	8.283e-05	0.0001	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.879e-05	0	0.0002	0.091	0.31834	T	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.42	0.70002	M	1.32	0.35219	T	-1.49	0.36385	N	0.66	0.66959	-1.0208	0.23454	T	0.145	0.46859	T	10	0.602194	0.66975	D	0.009108	0.23965	T	0.253	0.56294	.	.	0.377143385212	0.37329	0.6514504355819514	0.65081	0.616629423173	0.56118	0.758487582207	0.75705	T	0.033035	0.22741	T	-0.123197	0.32602	T	-0.155062	0.58794	T	0.426758480345012	0.29941	T	0.953005	0.82069	D	0.31661198	0.54352	0.3185094	0.57818	0.31661198	0.54352	0.3185094	0.57818	-7.11	0.54832	T	0.664119420018068	0.73808	0.792	0.76934	P	.	.	5.228089	0.87752	29.3	0.99895032161751551	0.96819	0.98185	0.80341	D	AEFDBI	0.899783	0.84456	D	0.521219317422953	0.68346	5.204518	0.57054198259225	0.72837	5.873275	0.999906189320054	0.45458	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	8.131000	0.89488	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.082	0.93167	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1734.33	34	chr11	124923361	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.921;DP=784;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.125;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1427	18	0	1	0
chr11	125081899	125081899	G	T	exonic	SLC37A2	.	nonsynonymous SNV	SLC37A2:NM_001145290:exon9:c.G878T:p.R293L,SLC37A2:NM_198277:exon9:c.G878T:p.R293L	.	435	1082	2	1	2	6	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0281997901665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.887e-07	6.84e-07	0	1.384e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.589	0.10501	T	0.014	0.19245	B	0.016	0.23121	B	0.058143	0.22425	N	0.476029	0.999709	0.20638	N	.	.	.	0.07	0.61677	T	-4.32	0.76655	D	0.542	0.58287	-1.0109	0.26635	T	0.115	0.40875	T	10	0.20408231	0.36586	T	0.028	0.50909	D	0.157	0.40909	0.602	0.73346	0.192905019026	0.18896	0.6025232583820913	0.60183	0.183962301553	0.20688	0.324280947447	0.14069	T	0.434991	0.78188	T	-0.0545564	0.43751	T	-0.316143	0.42995	T	0.644657671451569	0.38234	D	0.951205	0.81406	D	0.19676468	0.41516	0.18341689	0.41330	0.19676468	0.41516	0.18341689	0.41329	-5.769	0.44913	T	.	.	0.124	0.27702	B	.;.	.;.	2.137594	0.27216	17.39	0.98052924398902264	0.37882	0.45852	0.27630	N	AEFDBI	0.342645	0.43873	N	-0.808634892670642	0.13089	0.6424108	-0.814050866360883	0.14156	0.7381833	0.747916877478988	0.23313	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.54	0.766	0.17622	2.764000	0.47295	1.450000	0.26598	0.676000	0.76740	0.161000	0.23811	0.908000	0.28083	0.853000	0.40368	0.1372:0.0:0.685:0.1779	6.074	0.19129	900	0.24599	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	785.33	33	chr11	125081899	.	G	T	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=698;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.385;SOR=0.56	GT:AD:DP:GQ:PL	0/1:39,29:68:99:799,0,968	18	0	1	0
chr11	125102285	125102285	G	A	exonic	TMEM218	.	nonsynonymous SNV	TMEM218:NM_001258239:exon3:c.C62T:p.S21L,TMEM218:NM_001258242:exon3:c.C62T:p.S21L,TMEM218:NM_001258246:exon3:c.C62T:p.S21L,TMEM218:NM_001258243:exon4:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.456e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs781050487	7.621e-06	8.893e-06	8.262e-06	6.971e-06	3.037e-05	4.09e-06	2.99e-06	3.83e-06	2.78e-06	3.037e-05	0	0	0	0	0	8.148e-06	1.677e-05	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	39	chr11	125102285	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.408;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.86;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1331	18	0	1	0
chr11	125625863	125625863	C	T	exonic	CHEK1	.	nonsynonymous SNV	CHEK1:NM_001330427:exon1:c.C103T:p.R35C	.	428	1083	11	0	0	11	0.00505282	.	.	.	3216565	CHEK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	.	0.00139776	0.0032	0	0.0109	0	.	0.0011	0	0.0040	0.0004463	69	154602	rs544839853	0.0013	0.0011	0.0011	0.0014	0.0034	0.0012	0.0012	0.0030	0.0029	0.0003	0.0003	0	0	0.0011	0.0002	0.0013	0.0012	0.0034	0.0008	0.0008	0.0008	0.0009	0.0064	0.0007	0.0007	0.0046	0.0040	0.0002	0	0.0002	0	0	0.0013	0	0.0010	0.0009	0.0064	0.655	0.04772	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19599	N	.	.	.	-0.52	0.70717	T	1.03	0.01350	N	0.149	0.15187	-1.0255	0.21919	T	0.144	0.46678	T	8	0.0039245784	0.00075	T	.	.	.	0.094	0.27141	.	.	0.208816687407	0.20498	0.48049560190341034	0.47969	.	.	.	.	.	0.005898	0.05345	T	-0.445626	0.01198	T	-0.41436	0.31723	T	0.0200695194389658	0.00708	T	0.50025	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26325	B	.	.	-0.706666	0.01305	0.070	0.86492095057984453	0.16572	0.01254	0.04408	N	ALL	0.055339	0.10140	N	-1.95553406493676	0.00263	0.01128709	-2.10052835730378	0.00186	0.008185585	1.0	0.98316	0.024636	0.00146	3	0.374146	0.05931	1	0.239995	0.05000	1	0.003489	0.00041	3	.	.	3.32	-6.65	0.01630	-9.832000	0.00012	-8.945000	0.00890	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2116:0.3267:0.2417:0.22	0.902	0.01196	534	0.73357	Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1775.33	43	chr11	125625863	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=868;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.388;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	18	0	1	0
chr11	125644635	125644635	A	G	exonic	CHEK1	.	nonsynonymous SNV	CHEK1:NM_001330427:exon10:c.A1273G:p.M425V,CHEK1:NM_001330428:exon10:c.A943G:p.M315V,CHEK1:NM_001114121:exon11:c.A1225G:p.M409V,CHEK1:NM_001114122:exon11:c.A1225G:p.M409V,CHEK1:NM_001244846:exon11:c.A1225G:p.M409V,CHEK1:NM_001274:exon11:c.A1225G:p.M409V	.	.	.	.	.	.	.	.	.	.	.	3300854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0108062481531	.	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759227173	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0003	1.329e-05	1.144e-05	6.094e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	1.799e-05	0	5.801e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.321	0.13522	T	0.232	0.24987	T	0.0	0.02946	B	0.0	0.01387	B	0.004205	0.33991	N	0.316778	1	0.81001	D	-0.41	0.02942	N	-0.53	0.70833	T	-0.16	0.11547	N	0.316	0.35620	-1.0228	0.22802	T	0.106	0.38611	T	10	0.11730605	0.22151	T	0.010806	0.27768	T	0.090	0.26093	0.454	0.51775	0.790458859785	0.78851	0.28886776014372334	0.28799	0.413016077057	0.42023	0.457735449076	0.33000	T	0.071415	0.34201	T	-0.202043	0.20510	T	-0.346469	0.39609	T	0.0646915076766645	0.07885	T	0.761424	0.38629	T	0.061718598	0.12811	0.040844485	0.04506	0.061718598	0.12811	0.040844485	0.04505	-2.008	0.07286	T	.	.	0.054	0.00730	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.960902	0.24906	16.57	0.54225099813158728	0.05095	0.90602	0.51914	D	AEFBI	0.257218	0.37599	N	-0.593819323064507	0.19130	0.9988905	-0.399846885887266	0.25002	1.372395	0.00828904767641278	0.11646	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.3	0.36912	2.235000	0.42690	6.802000	0.56629	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.69:0.0:0.1535:0.1566	4.107	0.09513	525	0.74024	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1835.33	36	chr11	125644635	.	A	G	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=801;ExcessHet=0;FS=4.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-2.134;SOR=0.42	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1177	18	0	1	0
chr11	125895719	125895719	T	G	exonic	PUS3	.	nonsynonymous SNV	PUS3:NM_031307:exon3:c.A449C:p.E150A	.	428	1091	3	0	0	3	0.001373	.	.	.	1377611	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0201199186758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322006941	2.738e-06	2.736e-06	5.448e-06	0	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.142	0.26192	T	0.517	0.22494	T	0.014	0.16867	B	0.033	0.22329	B	0.002013	0.37457	N	0.314114	1	0.08975	N	-0.055	0.04927	N	1.47	0.55608	T	-1.22	0.30964	N	0.18	0.19459	-1.0257	0.21853	T	0.069	0.28147	T	10	0.08035913	0.13033	T	0.02012	0.42647	T	0.059	0.16972	0.517	0.61763	0.348764635752	0.34483	0.43170024104543303	0.43087	0.104594457088	0.11836	0.279327899218	0.07398	T	0.004977	0.04407	T	-0.184763	0.23030	T	-0.503176	0.22018	T	0.164551615715027	0.18202	T	0.50025	0.15781	T	0.05121643	0.09374	0.03277899	0.02066	0.05121643	0.09373	0.03277899	0.02066	-2.331	0.04728	T	0.13243499383959262	0.14119	0.072	0.04558	B	.;.;.	.;.;.	0.393025	0.07645	4.312	0.80711648828633598	0.13332	0.32188	0.24524	N	AEFBI	0.079295	0.16015	N	-1.26499037950514	0.04105	0.1846325	-1.2626259659425	0.04946	0.2345617	0.999801711934781	0.43304	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.87	-1.41	0.08473	0.103000	0.15128	0.553000	0.19438	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.3446:0.2147:0.4408	7.179	0.24938	795	0.45444	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	34	chr11	125895719	.	T	G	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=1059;ExcessHet=0;FS=14.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.574;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	125951818	125951818	C	A	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon6:c.C1240A:p.P414T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33627754	0.50770	T	.	.	.	.	.	.	.	.	.	0.43530290891344803	0.43447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493751	0.15260	T	0.05831838	0.11719	0.2122045	0.45681	0.05831838	0.11718	0.2122045	0.45680	-10.874	0.78962	D	.	.	0.518	0.65395	A	.	.	2.235486	0.28541	17.83	0.76421608201821101	0.11461	0.62061	0.31668	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99983313821064	0.43792	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.157897	0.27912	4.88	2.94	0.33188	3.303000	0.51565	3.116000	0.36380	-0.214000	0.08267	0.892000	0.31242	0.583000	0.25631	0.021000	0.11733	0.0:0.7077:0.2923:0.0	13.885	0.63203	853	0.34956	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.97	.	chr11	125951818	.	C	A	35.97	.	AC=2;AF=0.071;AN=28;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=0.1836;MLEAC=2;MLEAF=0.071;MQ=60;QD=17.98;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	13	1	0	5
chr11	125981135	125981135	T	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon17:c.A3190G:p.S1064G,CDON:NM_001378964:exon17:c.A3190G:p.S1064G,CDON:NM_016952:exon17:c.A3190G:p.S1064G	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1510	12	0	0	12	0.00395778	.	.	.	313179	not_provided|Inborn_genetic_diseases|Holoprosencephaly_11	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0226406552519	0.0002	0.000599042	0.0003	0	0	0.0001	0	0.0001	0.0022	0.0017	0.0002975	46	154602	rs143111106	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0	6.708e-05	0.0002	0	0	0.0071	9.083e-05	0.0003	0.0017	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	0	0.0241	0.0002	0	0	0	0.0068	7.35e-05	0.0005	0.0017	0.229	0.23271	T	0.398	0.16964	T	0.001	0.23277	B	0.001	0.23607	B	0.092796	0.20256	N	0.453195	1	0.08975	N	1.445	0.36358	L	-0.43	0.70014	T	-0.65	0.23372	N	0.115	0.20129	-1.0009	0.29660	T	0.152	0.48084	T	10	0.007580012	0.00172	T	0.022641	0.45547	T	0.071	0.20720	.	.	0.775327061018	0.77326	0.36927381451843255	0.36841	0.0880949821272	0.09952	0.313166469336	0.12385	T	0.221453	0.58503	T	-0.481007	0.00729	T	-0.488337	0.23565	T	0.0243149888923178	0.01184	T	0.578742	0.20864	T	0.055981793	0.10951	0.048278503	0.07137	0.055981793	0.10951	0.048278503	0.07137	-4.02	0.24102	T	0.07676353130901623	0.03536	0.149	0.58878	B	.;.;.	.;.;.	1.824522	0.23182	15.92	0.98074528734347355	0.38054	0.24978	0.22560	N	AEFBI	0.107942	0.21490	N	-0.62097527005516	0.18316	0.9498776	-0.552169054971892	0.20748	1.119287	0.980139605607017	0.30102	0.706298	0.61202	0	0.576064	0.32778	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	2.034000	0.40767	5.059000	0.47069	0.654000	0.53741	0.541000	0.27275	0.984000	0.30665	0.035000	0.13729	0.0:0.2058:0.0:0.7942	5.897	0.18190	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.011364	0.02632	578.33	58	chr11	125981135	.	T	C	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=754;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.248;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	18	0	1	0
chr11	126001826	126001826	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon11:c.C2051G:p.T684S,CDON:NM_001378964:exon11:c.C2051G:p.T684S,CDON:NM_016952:exon11:c.C2051G:p.T684S	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1515	7	0	0	7	0.00230491	.	.	.	326403	not_provided|Holoprosencephaly_11|CDON-related_disorder	MedGen:C3661900|MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0068	0.00179712	0.0068	0.0017	0.0023	0	0.0192	0.0089	0.0077	0.0031	0.0066235	1024	154602	rs145983470	0.0078	0.0079	0.0079	0.0078	0.0083	0.0077	0.0077	0.0081	0.0081	0.0010	0.0022	0.0121	0	0.0207	0.0026	0.0083	0.0070	0.0030	0.0060	0.0061	0.0057	0.0064	0.0081	0.0057	0.0056	0.0076	0.0073	0.0012	0.0033	0.0037	0.0130	0.0002	0.0177	0	0.0081	0.0057	0.0029	0.043	0.41364	D	0.307	0.19908	T	0.44	0.38723	B	0.118	0.38393	B	0.009752	0.30218	N	0.231330	0.989675	0.42042	D	1.745	0.45235	L	-0.36	0.68892	T	-0.85	0.28290	N	0.142	0.21839	-0.7994	0.55179	T	0.172	0.51357	T	10	0.008403778	0.00191	T	.	.	.	0.136	0.36778	0.193	0.10437	0.790592333802	0.78865	0.1986246840339425	0.19779	0.0929520975602	0.10498	0.40309292078	0.25499	T	0.278137	0.65078	T	-0.410333	0.01977	T	-0.351804	0.38998	T	0.0136248327535857	0.00252	T	0.562644	0.19782	T	0.11263977	0.26609	0.116664514	0.28163	0.11088617	0.26206	0.11224066	0.27079	-2.398	0.05207	T	0.17843210639092488	0.22868	0.111	0.29860	B	.;.;.	.;.;.	1.994872	0.25342	16.73	0.98568010399147765	0.43063	0.97944	0.78319	D	AEFBI	0.568045	0.57339	D	0.10610886230278	0.46746	2.910418	0.252453809694907	0.52788	3.451401	0.999994851408151	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.664235	0.64389	0	.	.	5.78	5.78	0.91418	5.219000	0.65094	4.547000	0.43788	0.676000	0.76740	1.000000	0.71638	0.981000	0.30433	0.528000	0.29660	0.0:0.0:1.0:0.0	20.367	0.98884	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	2538.81	48	chr11	126001826	.	G	C	2538.81	.	AC=2;AF=0.053;AN=38;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.96;SOR=1.151	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1186	18	1	0	0
chr11	126005946	126005946	G	A	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon9:c.C1664T:p.P555L,CDON:NM_001378964:exon9:c.C1664T:p.P555L,CDON:NM_016952:exon9:c.C1664T:p.P555L	Holoprosencephaly 11, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	1411527	Holoprosencephaly_11	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0190611980934	7.7e-05	.	9.08e-05	0	0.0002	0	0	0.0001	0	6.06e-05	7.12e-05	11	154602	rs143213791	4.857e-05	4.857e-05	5.037e-05	4.675e-05	0.0001	3.926e-05	3.604e-05	5.804e-05	4.042e-05	8.961e-05	0.0001	0	5.039e-05	0	0	4.317e-05	4.967e-05	0.0001	2.63e-05	2.627e-05	2.571e-05	2.692e-05	7.246e-05	8.15e-06	5.14e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.959	0.58310	D	0.359	0.43123	B	0.000059	0.53742	D	0.000000	0.997592	0.44019	D	2.6	0.76081	M	-0.43	0.69657	T	-2.89	0.60827	D	0.444	0.48227	-0.6381	0.63226	T	0.248	0.61681	T	10	0.39939043	0.55459	T	0.019061	0.41318	T	0.306	0.62729	.	.	0.796847187164	0.79495	0.50956905117545	0.50878	0.43967976743	0.43992	0.398383170366	0.24843	T	0.559303	0.85219	D	-0.154408	0.27624	T	-0.190273	0.55564	T	0.570356547832489	0.35248	D	0.755224	0.37818	T	0.1643675	0.36640	0.1840921	0.41440	0.1643675	0.36639	0.1840921	0.41439	-5.708	0.43924	T	0.18866542291941368	0.24649	0.224	0.51540	B	.;.	.;.	2.612221	0.33929	19.48	0.99577732839898658	0.72802	0.92154	0.55065	D	AEFBI	0.251741	0.37156	N	0.107038755894381	0.46790	2.914	0.0489468271934641	0.42019	2.534454	0.76321816655824	0.23545	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.03	5.13	0.69729	3.133000	0.50225	1.952000	0.29891	0.676000	0.76740	0.998000	0.41325	0.982000	0.30508	0.014000	0.10232	0.0678:0.0:0.7968:0.1354	10.188	0.42186	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1756.33	34	chr11	126005946	.	G	A	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.053;DP=767;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.06;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chr11	126267701	126267701	C	G	exonic	SRPRA	.	nonsynonymous SNV	SRPRA:NM_001177842:exon2:c.G129C:p.Q43H,SRPRA:NM_003139:exon3:c.G213C:p.Q71H	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0554000598591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.113557	1	0.81001	D	.	.	.	.	.	.	-4.83	0.80943	D	0.895	0.89465	-0.5566	0.66534	T	0.341	0.70688	T	9	0.88804483	0.88138	D	0.055	0.66222	D	0.359	0.67962	0.826	0.93721	0.248133497653	0.24425	0.9319651819774726	0.93175	1.17131033113	0.79773	0.878252387047	0.93724	D	0.529664	0.83701	D	0.207965	0.74639	D	0.0609504	0.74308	D	0.986816585063934	0.77442	D	0.959404	0.84692	D	0.81731313	0.85039	0.49502134	0.70795	0.81731313	0.85041	0.49502134	0.70795	-9.462	0.70622	D	.	.	0.963	0.92555	P	.;.	.;.	3.617126	0.51171	23.1	0.97650591795001196	0.35137	0.88304	0.48171	D	AEFDGBHCI	0.515932	0.54268	D	-0.208986728233915	0.32765	1.851475	-0.382737499028826	0.25512	1.403422	0.999999746284059	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.24	0.115	0.13949	0.903000	0.28101	2.653000	0.33829	-0.266000	0.06809	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1437:0.5409:0.0:0.3154	4.479	0.11169	804	0.43891	Signal recognition particle receptor, alpha subunit, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	35	chr11	126267701	.	C	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.895;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr11	126277604	126277604	G	A	exonic	FOXRED1	.	nonsynonymous SNV	FOXRED1:NM_017547:exon11:c.G1376A:p.G459D	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.310525627567	.	.	4.162e-05	0	0	0	0	1.521e-05	0	0.0002	3.23e-05	5	154602	rs771056060	2.395e-05	2.394e-05	9.531e-06	3.852e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.497e-06	1.656e-05	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.031	0.45039	D	0.059	0.45961	T	0.939	0.55854	P	0.38	0.59784	B	0.000000	0.84330	D	0.048268	1	0.81001	D	3.31	0.90591	M	-2.29	0.87591	D	-4.5	0.79915	D	0.562	0.62273	0.738	0.93640	D	0.803	0.93326	D	10	0.6563709	0.69897	D	0.310526	0.91170	D	0.640	0.86283	0.52	0.62217	0.874533139501	0.87330	0.9415130670729526	0.94132	0.373452143324	0.38813	0.536688566208	0.43978	T	0.145485	0.48264	T	0.071971	0.61088	D	0.125284	0.78583	D	0.687136054039001	0.40115	D	0.846715	0.52677	T	0.6646964	0.76150	0.66096354	0.80134	0.6646964	0.76151	0.66096354	0.80135	-5.617	0.45281	T	0.2988502335461535	0.39607	0.180	0.46505	B	.;.	.;.	3.617607	0.51181	23.1	0.99754818575409965	0.84537	0.94278	0.60659	D	AEFDBHCI	0.799295	0.72560	D	0.464121441844759	0.65008	4.768794	0.374590065066587	0.60001	4.183226	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	5.654000	0.67646	9.904000	0.82373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:1.0:0.0	19.117	0.93327	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2208.33	36	chr11	126277604	.	G	A	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.797;DP=830;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=2.12;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	18	0	1	0
chr11	129854610	129854610	G	A	exonic	TMEM45B	.	nonsynonymous SNV	TMEM45B:NM_138788:exon3:c.G179A:p.G60E,TMEM45B:NM_001331210:exon4:c.G179A:p.G60E,TMEM45B:NM_001331211:exon4:c.G179A:p.G60E,TMEM45B:NM_001331212:exon4:c.G179A:p.G60E	.	.	.	.	.	.	.	.	0.9991	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.124337635202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232861181	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046717	1	0.81001	D	3.47	0.92451	M	1.32	0.35219	T	-7.62	0.95394	D	0.992	0.99822	-0.3860	0.72466	T	0.305	0.67556	T	9	0.97791636	0.97644	D	0.124338	0.80566	D	0.702	0.89284	0.815	0.92992	0.543342094247	0.53989	0.961158136286585	0.96101	0.608687669881	0.55635	0.652977108955	0.60409	T	0.233814	0.60070	T	0.304493	0.83321	D	0.199606	0.83105	D	0.997770428657532	0.92389	D	0.842016	0.51794	T	0.93754303	0.94997	0.9509813	0.98458	0.93754303	0.94997	0.9509813	0.98459	-10.484	0.76755	D	.	.	0.969	0.89285	P	.;.	.;.	5.678672	0.92983	33	0.9967464453149254	0.78846	0.97365	0.74289	D	AEFDGBHCI	0.975090	0.99598	D	0.877138078766484	0.90594	10.47614	0.784118498345224	0.88668	9.669242	1.0	0.98316	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.8	5.8	0.92081	9.602000	0.97623	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	18.623	0.91283	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	37	chr11	129854610	.	G	A	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=761;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.897;SOR=0.407	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr11	129864750	129864750	G	A	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon25:c.C3950T:p.P1317L,NFRKB:NM_001143835:exon27:c.C3875T:p.P1292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00391351551823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.70582	D	0.919	0.54136	P	0.321	0.48197	B	0.000004	0.62929	D	0.107337	0.999999	0.58761	D	0.805	0.20218	L	.	.	.	-1.56	0.37759	N	0.358	0.53620	-0.8387	0.52733	T	0.149	0.47575	T	9	0.2191158	0.38572	T	0.003914	0.09211	T	0.178	0.44724	0.145	0.04843	0.043077524339	0.03247	0.21330606650148218	0.21246	1.01813655237	0.75012	0.772199213505	0.77755	T	0.042435	0.26181	T	0.0622616	0.59896	T	-0.148342	0.59391	T	0.740932338499828	0.42787	D	0.928407	0.73561	D	0.250796	0.48084	0.25228888	0.50855	0.250796	0.48084	0.25228888	0.50854	-4.269	0.27740	T	.	.	0.096	0.15385	B	.;.;.	.;.;.	5.262019	0.88351	29.6	0.99884176763252663	0.95970	0.94597	0.61686	D	AEFDBCI	0.712608	0.66568	D	0.466656487297983	0.65156	4.786973	0.567786625049011	0.72642	5.84243	0.999999972809549	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.038000	0.70604	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.805	0.96520	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	39	chr11	129864750	.	G	A	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=801;ExcessHet=0;FS=11.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.952;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1382	18	0	1	0
chr11	129869651	129869651	T	C	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon22:c.A3449G:p.H1150R,NFRKB:NM_001143835:exon24:c.A3374G:p.H1125R	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0058	0.00359425	0.0063	0.0008	0.0038	0	0.0005	0.0067	0.0055	0.0155	0.0061125	945	154602	rs143202036	0.0066	0.0066	0.0063	0.0069	0.0155	0.0065	0.0064	0.0148	0.0145	0.0005	0.0029	0.0093	2.519e-05	0.0010	0.0042	0.0067	0.0064	0.0155	0.0046	0.0046	0.0047	0.0044	0.0164	0.0043	0.0042	0.0135	0.0124	0.0008	0.0164	0.0019	0.0084	0.0002	0.0010	0.0068	0.0071	0.0062	0.0164	0.01	0.57480	D	0.508	0.10893	T	0.396	0.37720	B	0.188	0.42645	B	0.006808	0.31785	N	0.335919	0.949579	0.37658	D	0.55	0.14455	N	.	.	.	-0.42	0.14193	N	0.463	0.50146	-0.9703	0.37136	T	0.091	0.34928	T	9	0.0060894787	0.00137	T	.	.	.	0.049	0.13647	.	.	0.206203607746	0.20212	0.28339736818455324	0.28252	1.11301743458	0.78100	0.608667194843	0.54127	T	0.050658	0.28658	T	-0.342275	0.05232	T	-0.252755	0.49545	T	0.0142478194160461	0.00282	T	0.849515	0.53247	T	0.06090459	0.12551	0.079372644	0.17862	0.06090459	0.12551	0.079372644	0.17861	-1.752	0.02370	T	.	.	0.129	0.28948	B	.;.;.	.;.;.	3.256655	0.44521	22.0	0.98687578020027289	0.44709	0.97844	0.77553	D	AEFDBI	0.154217	0.27921	N	0.101069758424067	0.46512	2.890484	0.215569261615967	0.50710	3.260317	0.996963282248949	0.35156	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.647000	0.61115	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1389:0.0:0.0:0.8611	11.058	0.47145	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.006793	0.002924	0.000000	0.000000	0.009146	0.022727	0.02632	2003.33	34	chr11	129869651	.	T	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=848;ExcessHet=0;FS=3.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.775;SOR=0.947	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr11	129902329	129902329	T	C	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon16:c.A3056G:p.H1019R,PRDM10:NM_001367898:exon17:c.A3197G:p.H1066R,PRDM10:NM_001367896:exon18:c.A2606G:p.H869R,PRDM10:NM_001367899:exon18:c.A3209G:p.H1070R,PRDM10:NM_199438:exon18:c.A3170G:p.H1057R,PRDM10:NM_001367895:exon19:c.A2567G:p.H856R,PRDM10:NM_001367897:exon19:c.A2618G:p.H873R,PRDM10:NM_001367890:exon20:c.A3107G:p.H1036R,PRDM10:NM_001367891:exon20:c.A3395G:p.H1132R,PRDM10:NM_001367894:exon20:c.A3068G:p.H1023R,PRDM10:NM_199437:exon21:c.A3455G:p.H1152R,PRDM10:NM_001367892:exon22:c.A3401G:p.H1134R,PRDM10:NM_001367893:exon22:c.A3428G:p.H1143R,PRDM10:NM_020228:exon22:c.A3467G:p.H1156R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0261412537235	.	.	0.0005	0	8.637e-05	0	0	0	0.0011	0.0038	0.0004269	66	154602	rs567584353	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	2.519e-05	0	0.0005	1.259e-05	0.0003	0.0035	5.909e-05	5.905e-05	2.57e-05	9.398e-05	0.0017	3.075e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.0	0.91255	D	0.006	0.70582	D	0.879	0.53761	P	0.494	0.50479	P	0.000000	0.84330	D	0.051474	0.999999	0.58761	D	.	.	.	2.18	0.32482	T	-1.69	0.40274	N	0.569	0.67995	-1.0641	0.10760	T	0.085	0.33071	T	10	0.013608426	0.00288	T	0.026141	0.49069	D	0.132	0.35948	.	.	0.0934897674506	0.08844	0.6623963974092498	0.66176	0.539597992946	0.51187	0.698578238487	0.66938	T	.	.	.	-0.331656	0.05987	T	-0.25065	0.49752	T	0.0946466404947882	0.11757	T	0.938606	0.83962	D	.	.	.	.	.	.	.	.	-4.857	0.35351	T	.	.	0.222	0.52768	B	.;.;.;.;.;.	.;.;.;.;.;.	3.490530	0.48788	22.7	0.99777972424083106	0.86519	0.98165	0.80163	D	AEFBI	0.708983	0.66322	D	0.358621718872685	0.59196	4.097068	0.445473292150961	0.64426	4.697605	0.999985579089264	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	5.029000	0.63903	6.179000	0.54604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:0.0:1.0	15.556	0.75935	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1495.33	50	chr11	129902329	.	T	C	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=893;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.962;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1336	18	0	1	0
chr11	129910541	129910541	T	G	exonic	PRDM10	.	nonsynonymous SNV	PRDM10:NM_199439:exon14:c.A2699C:p.Q900P,PRDM10:NM_001367898:exon15:c.A2840C:p.Q947P,PRDM10:NM_001367896:exon16:c.A2249C:p.Q750P,PRDM10:NM_001367899:exon16:c.A2852C:p.Q951P,PRDM10:NM_199438:exon16:c.A2813C:p.Q938P,PRDM10:NM_001367895:exon17:c.A2210C:p.Q737P,PRDM10:NM_001367897:exon17:c.A2261C:p.Q754P,PRDM10:NM_001367890:exon18:c.A2750C:p.Q917P,PRDM10:NM_001367891:exon18:c.A3038C:p.Q1013P,PRDM10:NM_001367894:exon18:c.A2711C:p.Q904P,PRDM10:NM_199437:exon19:c.A3098C:p.Q1033P,PRDM10:NM_001367892:exon20:c.A3044C:p.Q1015P,PRDM10:NM_001367893:exon20:c.A3071C:p.Q1024P,PRDM10:NM_020228:exon20:c.A3110C:p.Q1037P	.	426	1081	15	0	0	15	0.00689022	.	.	.	2810023	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00596931075526	0.0032	0.00199681	0.0029	0.0005	0.0012	0	0.0005	0.0044	0.0022	0.0021	0.0027425	424	154602	rs141740226	0.0032	0.0032	0.0032	0.0032	0.0109	0.0031	0.0031	0.0088	0.0080	0.0009	0.0020	0.0167	2.52e-05	0.0003	0.0109	0.0033	0.0038	0.0023	0.0022	0.0022	0.0022	0.0021	0.0031	0.0020	0.0019	0.0027	0.0026	0.0005	0	0.0018	0.0161	0	0.0004	0.0068	0.0031	0.0043	0.0006	0.038	0.42783	D	0.074	0.54159	T	0.0	0.07471	B	0.0	0.04355	B	0.091753	0.20309	N	0.493708	0.73427	0.33752	D	.	.	.	2.82	0.11730	T	-0.78	0.21644	N	0.314	0.42541	-1.0421	0.16681	T	0.014	0.05608	T	10	0.00473091	0.00100	T	0.005969	0.15579	T	0.019	0.03383	.	.	0.0675242888579	0.06100	0.42662894743604407	0.42579	0.124582783249	0.14036	0.408897936344	0.26304	T	.	.	.	-0.477599	0.00764	T	-0.461865	0.26397	T	0.0368363451973109	0.03126	T	0.692831	0.31953	T	.	.	.	.	.	.	.	.	-5.186	0.39546	T	.	.	0.066	0.10014	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.530675	0.19640	14.36	0.95152553367378334	0.26288	0.93304	0.57859	D	AEFDBI	0.614196	0.60160	D	-0.693359907043692	0.16210	0.8238372	-0.620561445937764	0.18965	1.015487	0.0132424540917667	0.12437	0.372202	0.05800	0	0.546412	0.12157	0	0.0	0.00061	3	0.491896	0.07777	0	.	.	2.46	1.21	0.20240	1.834000	0.38811	3.274000	0.37181	0.474000	0.21982	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:0.4354:0.5646	7.513	0.26752	856	0.34373	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1339.33	33	chr11	129910541	.	T	G	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.33;DP=740;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.875;SOR=0.773	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	130126702	130126702	C	T	exonic	APLP2	.	nonsynonymous SNV	APLP2:NM_001142278:exon4:c.C406T:p.P136S,APLP2:NM_001382546:exon4:c.C406T:p.P136S,APLP2:NM_001382539:exon6:c.C751T:p.P251S,APLP2:NM_001382540:exon6:c.C751T:p.P251S,APLP2:NM_001382541:exon6:c.C637T:p.P213S,APLP2:NM_001382542:exon6:c.C625T:p.P209S,APLP2:NM_001382543:exon6:c.C637T:p.P213S,APLP2:NM_001382545:exon6:c.C637T:p.P213S,APLP2:NM_001142277:exon7:c.C925T:p.P309S,APLP2:NM_001328682:exon7:c.C925T:p.P309S,APLP2:NM_001328685:exon7:c.C925T:p.P309S,APLP2:NM_001382533:exon7:c.C919T:p.P307S,APLP2:NM_001382534:exon7:c.C925T:p.P309S,APLP2:NM_001382535:exon7:c.C940T:p.P314S,APLP2:NM_001382536:exon7:c.C919T:p.P307S,APLP2:NM_001382537:exon7:c.C925T:p.P309S,APLP2:NM_001382538:exon7:c.C805T:p.P269S,APLP2:NM_001142276:exon8:c.C1093T:p.P365S,APLP2:NM_001243299:exon8:c.C1123T:p.P375S,APLP2:NM_001328684:exon8:c.C1093T:p.P365S,APLP2:NM_001328686:exon8:c.C994T:p.P332S,APLP2:NM_001382526:exon8:c.C1093T:p.P365S,APLP2:NM_001382527:exon8:c.C1093T:p.P365S,APLP2:NM_001382528:exon8:c.C1108T:p.P370S,APLP2:NM_001382529:exon8:c.C1093T:p.P365S,APLP2:NM_001382530:exon8:c.C1093T:p.P365S,APLP2:NM_001382531:exon8:c.C961T:p.P321S,APLP2:NM_001382532:exon8:c.C994T:p.P332S,APLP2:NM_001642:exon8:c.C1093T:p.P365S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0115906020185	.	.	0.0001	0	8.637e-05	0	0	0	0	0.0010	0.00011	17	154602	rs778062553	5.953e-05	6.02e-05	3.404e-05	8.529e-05	0.0010	4.884e-05	4.563e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	6.625e-05	0.0010	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.192	0.30375	T	0.315	0.43344	T	0.001	0.90584	B	0.003	0.88582	B	0.087360	0.20538	N	0.511755	0.999985	0.54805	D	0.77	0.19370	N	1.0	0.41392	T	-0.54	0.29933	N	0.408	0.46742	-0.9876	0.33200	T	0.173	0.51642	T	10	0.05820909	0.09042	T	0.011591	0.29367	T	0.095	0.27398	0.422	0.46529	0.358461578395	0.35455	0.40433860021235485	0.40349	0.132944001821	0.14976	0.540994048119	0.44585	T	0.235407	0.60266	T	-0.326286	0.06397	T	-0.319451	0.42635	T	0.0725948422033297	0.09010	T	0.752925	0.45525	T	0.07659995	0.17335	0.07274518	0.15728	0.07659995	0.17334	0.07274518	0.15727	-4.753	0.34121	T	.	.	0.082	0.21766	B	.;.;.;.;.;.	.;.;.;.;.;.	4.417895	0.68405	25.2	0.99402387675574755	0.62887	0.97357	0.74238	D	AEFDBI	0.788189	0.71775	D	-0.0448248269368289	0.39833	2.355575	0.136865290672568	0.46451	2.89077	0.999999637253601	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.906000	0.48432	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.306	0.82678	586	0.69252	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2312.33	33	chr11	130126702	.	C	T	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=817;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.23;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1372	18	0	1	0
chr11	130915438	130915438	T	-	exonic	SNX19	.	frameshift deletion	SNX19:NM_001347918:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347919:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347920:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347921:exon1:c.502delA:p.S168Afs*49,SNX19:NM_014758:exon1:c.502delA:p.S168Afs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2018.29	38	chr11	130915437	.	CT	C	2018.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.776;DP=977;ExcessHet=0;FS=2.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.199;SOR=0.506	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr11	132330173	132330173	A	C	exonic	NTM	.	nonsynonymous SNV	NTM:NM_001144058:exon7:c.A955C:p.T319P,NTM:NM_001352002:exon8:c.A991C:p.T331P,NTM:NM_001352005:exon8:c.A955C:p.T319P,NTM:NM_001352001:exon9:c.A991C:p.T331P,NTM:NM_001352006:exon9:c.A928C:p.T310P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00576452012183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.208	0.26883	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	0.15	0.60734	T	-0.54	0.16598	N	0.136	0.13341	-1.0267	0.21527	T	0.060	0.25054	T	9	0.20055953	0.36107	T	0.005765	0.14952	T	0.083	0.24192	0.467	0.53891	0.447408163157	0.44359	0.6034036130732616	0.60271	0.491365883258	0.47828	0.379869699478	0.22239	T	0.008132	0.07480	T	-0.146036	0.28934	T	-0.447547	0.27969	T	0.315370676790793	0.25633	T	0.356864	0.11694	T	.	.	.	.	.	.	.	.	-1.282	0.01373	T	.	.	0.095	0.20078	B	.;.	.;.	2.528956	0.32697	19.12	0.98241654416958801	0.39485	0.70237	0.34508	D	AEFDBI	0.324939	0.42667	N	-0.215713260395055	0.32488	1.832774	-0.145392601783577	0.33585	1.922749	0.0310491261866103	0.13980	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.53	0.123	0.14012	2.181000	0.42176	6.497000	0.55774	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4309:0.5691:0.0:0.0	14.226	0.65405	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	35	chr11	132330173	.	A	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=1.44;SOR=0.673	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr11	134153139	134153139	C	T	splicing	NCAPD3	NM_015261:exon34:c.4388+1G>A;NM_001372069:exon33:c.3974+1G>A;NM_001372070:exon36:c.3974+1G>A;NM_001372068:exon34:c.4388+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.948	YES	3224899	Microcephaly_22,_primary,_autosomal_recessive	MONDO:MONDO:0054805,MedGen:C4693834,OMIM:617984	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164631127	4.106e-06	4.104e-06	6.808e-06	1.375e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326645	0.84935	D	0.231427	0.84737	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.021254	0.83447	28.0	0.99188025479285136	0.54877	0.83033	0.42186	D	AEFBCI	.	.	.	1.02883194925529	0.96563	14.85152	0.864004524301471	0.93806	12.294	0.998500584792933	0.37090	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.240291	0.04720	0	0.976461	0.79721	5.77	5.77	0.91077	3.563000	0.53529	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.338000	0.25386	0.0:0.9265:0.0:0.0735	13.207	0.59229	684	0.59539	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	36	chr11	134153139	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=795;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.29;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr11	134157939	134157939	G	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon30:c.C3749T:p.T1250M,NCAPD3:NM_001372065:exon31:c.C4163T:p.T1388M,NCAPD3:NM_001372068:exon31:c.C4163T:p.T1388M,NCAPD3:NM_015261:exon31:c.C4163T:p.T1388M,NCAPD3:NM_001372070:exon33:c.C3749T:p.T1250M	.	429	1091	2	0	0	2	0.000915751	.	.	.	701670	Intellectual_disability|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0038	0.00419329	0.0013	0.0125	0.0012	0	0	0.0002	0.0033	0	0.001326	205	154602	rs116394634	0.0006	0.0006	0.0006	0.0005	0.0138	0.0005	0.0005	0.0127	0.0123	0.0138	0.0017	0	2.519e-05	0	0.0021	0.0002	0.0014	2.319e-05	0.0043	0.0043	0.0045	0.0041	0.0145	0.0040	0.0039	0.0136	0.0132	0.0145	0	0.0021	0	0	0	0.0034	0.0001	0.0024	0	0.091	0.31834	T	0.151	0.32355	T	0.032	0.20242	B	0.009	0.14300	B	0.090091	0.02445	N	1.841410	1	0.08975	N	0.84	0.21119	L	1.53	0.30401	T	-1.32	0.32991	N	0.085	0.06190	-1.0532	0.13520	T	0.030	0.12848	T	10	0.0038155615	0.00072	T	.	.	.	0.058	0.16647	.	.	0.16115917748	0.15686	0.3398109754759084	0.33894	0.0785156412576	0.08831	0.230115830898	0.01976	T	0.011595	0.10324	T	-0.673952	0.00052	T	-0.729186	0.04364	T	0.00297329997948987	0.00031	T	0.469153	0.13854	T	0.011384243	0.00016	0.020727858	0.00152	0.017402967	0.00270	0.023494909	0.00362	-4.511	0.31032	T	.	.	0.084	0.09578	B	.	.	0.624142	0.09926	6.684	0.90880582406056376	0.20129	0.05551	0.11447	N	AEFBI	0.046851	0.07824	N	-1.20133559881908	0.04981	0.2260248	-1.31744509742699	0.04205	0.1978335	0.717583744177064	0.22893	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	3.99	-5.24	0.02576	0.084000	0.14738	0.325000	0.17225	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2792:0.3818:0.2094:0.1296	1.860	0.02994	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.005051	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	35	chr11	134157939	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-1.801;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	0	1	0
chr11	134157973	134157973	G	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon30:c.C3715T:p.P1239S,NCAPD3:NM_001372065:exon31:c.C4129T:p.P1377S,NCAPD3:NM_001372068:exon31:c.C4129T:p.P1377S,NCAPD3:NM_015261:exon31:c.C4129T:p.P1377S,NCAPD3:NM_001372070:exon33:c.C3715T:p.P1239S	.	427	1090	5	0	0	5	0.00228833	.	.	.	1165986	NCAPD3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00716129031114	0.0027	0.00199681	0.0020	0.0005	0.0006	0	0.0059	0.0026	0.0011	0.0009	0.0019146	296	154602	rs150526752	0.0023	0.0023	0.0023	0.0023	0.0025	0.0022	0.0022	0.0024	0.0024	0.0003	0.0008	0.0010	0	0.0052	0.0014	0.0025	0.0022	0.0007	0.0018	0.0018	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0023	0.0005	0	0.0010	0.0023	0	0.0034	0	0.0028	0.0014	0	0.161	0.23631	T	0.552	0.09361	T	0.017	0.17573	B	0.009	0.14300	B	0.036765	0.24482	N	0.410761	0.999999	0.08975	N	1.2	0.30300	L	1.59	0.28836	T	-1.44	0.35399	N	0.092	0.07125	-1.0563	0.12698	T	0.027	0.11663	T	10	0.0043567717	0.00088	T	0.007161	0.18979	T	0.008	0.00669	.	.	0.21279746466	0.20884	0.48379565128909413	0.48299	0.0836723866774	0.09433	0.300966322422	0.10545	T	0.01525	0.12830	T	-0.647636	0.00075	T	-0.702107	0.05712	T	0.00206275498745688	0.00021	T	0.639136	0.25234	T	0.022644952	0.00941	0.03444811	0.02514	0.022644952	0.00941	0.03444811	0.02513	-2.727	0.07532	T	.	.	0.116	0.23395	B	.	.	1.408051	0.18233	13.62	0.62699382122793701	0.07029	0.47196	0.27929	N	AEFBI	0.042458	0.06590	N	-0.717325695070817	0.15534	0.7837365	-0.632864343412186	0.18651	0.9972833	0.0978609779356964	0.16291	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	5.72	2.33	0.27981	1.035000	0.29824	5.677000	0.49279	0.676000	0.76740	0.174000	0.23986	1.000000	0.68203	0.169000	0.20946	0.3487:0.0:0.6512:0.0	7.862	0.28676	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1932.33	35	chr11	134157973	.	G	A	1932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=798;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.87;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	0	1	0
chr11	134368709	134368709	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370461:exon10:c.G955A:p.G319R,GLB1L2:NM_138342:exon10:c.G955A:p.G319R,GLB1L2:NM_001370460:exon11:c.G1117A:p.G373R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	.	0.0009	0.00599042	0.0053	0.0009	0.0534	0.0003	0	0.0001	0.0044	0.0001	0.0049094	759	154602	rs138130138	0.0016	0.0016	0.0019	0.0014	0.0484	0.0016	0.0016	0.0467	0.0460	0.0004	0.0484	3.826e-05	0.0006	0	0.0010	7.464e-05	0.0017	0.0002	0.0048	0.0048	0.0039	0.0057	0.0431	0.0045	0.0044	0.0404	0.0393	0.0010	0	0.0431	0	0.0006	0	0	0.0002	0.0038	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.055211	1	0.81001	D	4.52	0.99038	H	-7.03	0.99831	D	-7.85	0.96058	D	0.993	0.99863	0.186	0.85665	D	0.302	0.67316	T	10	0.024201661	0.00658	T	.	.	.	0.956	0.99253	0.963	0.99627	0.566010919861	0.56265	0.991033348956113	0.99098	0.73479778726	0.62922	0.673351407051	0.63315	T	0.877078	0.97393	D	0.231269	0.76841	D	0.59667	0.96961	D	0.197528954302392	0.20279	T	0.977602	0.92086	D	0.90058076	0.91434	0.8587813	0.92096	0.90058076	0.91436	0.8587813	0.92096	-10.268	0.75501	D	.	.	0.953	0.87237	P	.;.	.;.	6.525936	0.95351	34	0.99933767164601028	0.99488	0.98815	0.87215	D	AEFGBI	0.895117	0.83480	D	0.688989780491311	0.78910	6.967893	0.640589383254785	0.77913	6.771531	0.999999998746674	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.19	5.19	0.71428	9.604000	0.97770	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.481	0.87567	976	0.04745	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.05263	3466.83	38	chr11	134368709	.	G	A	3466.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.79;DP=950;ExcessHet=0.119;FS=0.437;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.97;SOR=0.729	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1543,0,1758	17	0	2	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G	.	5	1503	14	0	0	14	0.00463576	.	.	.	753324	KDM5A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	376.33	37	chr12	309870	.	T	C	376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=671;ExcessHet=0;FS=4.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=1.93;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	440847	440847	C	T	exonic	CCDC77	.	nonsynonymous SNV	CCDC77:NM_001130148:exon10:c.C1075T:p.R359C,CCDC77:NM_001130146:exon11:c.C1075T:p.R359C,CCDC77:NM_001130147:exon11:c.C1075T:p.R359C,CCDC77:NM_032358:exon12:c.C1171T:p.R391C	.	424	1095	2	1	0	4	0.00182315	.	.	.	2232483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.600	0.0907674534802	0.0002	.	0.0002	0.0003	0.0003	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs189099875	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0.0010	0.0002	0.0003	0	0	0.0023	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0005	0.0007	0	0.0003	0.0003	0.0002	0	0	0.0001	0.0009	0.0002	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	0.94	0.43672	T	-6.64	0.92217	D	0.895	0.89577	-0.4938	0.68872	T	0.301	0.67186	T	10	0.7383708	0.74781	D	0.090767	0.75580	D	0.600	0.84183	.	.	0.774308684376	0.77223	0.6546196050560958	0.65397	0.663425507112	0.59016	0.55380409956	0.46394	T	0.264434	0.63620	T	-0.0120314	0.49981	T	0.142465	0.79705	D	0.228057179184192	0.21859	T	0.957904	0.84151	D	0.6612568	0.75966	0.5845807	0.75912	0.6612568	0.75967	0.5845807	0.75913	-12.318	0.86366	D	.	.	0.314	0.54056	B	.;.;.;.;.	.;.;.;.;.	5.588512	0.92361	32	0.99939326189141597	0.99734	0.98702	0.85770	D	AEFGBI	0.928926	0.91389	D	0.761255138797781	0.83638	8.069557	0.707104900528462	0.82918	7.887658	0.999999999910354	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	7.670000	0.82907	7.545000	0.60160	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:1.0:0.0:0.0	20.080	0.97768	460	0.78750	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	492.33	38	chr12	440847	.	C	T	492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=696;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=1.05;SOR=1.155	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	18	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.02632	943.33	33	chr12	553246	.	G	C	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=683;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.23;SOR=1.375	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1226	18	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.02632	1509.33	40	chr12	553529	.	C	T	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=1140;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.62;SOR=0.681	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr12	865117	865117	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.G2147A:p.R716H	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	9	1510	3	0	0	3	0.000992392	.	.	.	840310	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0059427455754	.	0.000199681	0.0002	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs150330647	4.171e-05	4.173e-05	3.311e-05	5.06e-05	0.0012	3.259e-05	2.977e-05	0.0006	0.0004	3.202e-05	0	0	0	3.001e-05	0.0012	2.247e-05	5.245e-05	0.0003	5.343e-05	5.257e-05	2.611e-05	8.206e-05	0.0004	2.594e-05	1.857e-05	7.468e-05	3.095e-05	0	0	6.673e-05	0	0	0	0	7.453e-05	0	0.0004	.	.	.	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.4	0.44090	-1.0915	0.05286	T	0.044	0.18742	T	6	0.13973081	0.26565	T	0.005943	0.15490	T	.	.	.	.	0.43774664317	0.43397	0.021617356769467348	0.02113	.	.	.	.	.	.	.	.	-0.00280149	0.51268	T	0.0226278	0.71800	D	0.894748508930206	0.54618	D	0.669433	0.27806	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.267	0.50147	B	.	.	2.922823	0.38803	20.8	0.99942576558236929	0.99824	0.98875	0.88021	D	AEFGBI	0.879496	0.80549	D	0.307492050094947	0.56532	3.818103	0.394165919741863	0.61204	4.317329	0.999948612145258	0.47345	0.160855	0.03482	2	0.546412	0.12157	0	0.408882	0.06424	0	0.491896	0.07777	0	.	.	5.67	4.78	0.60666	7.687000	0.83428	4.534000	0.43737	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0693:0.0:0.9307:0.0	14.791	0.69466	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003927	0.000000	0.000000	0.005814	0.000000	0.071429	0.000000	0.000000	0.02632	1997.33	95	chr12	865117	.	G	A	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.228;DP=841;ExcessHet=0;FS=4.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.441;SOR=0.398	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr12	865332	865332	C	T	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.C2362T:p.R788C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	413333	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|not_provided|Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases|WNK1-related_disorder	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MedGen:C3661900|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0137091309083	.	0.000798722	0.0013	0.0019	0	0	0	0.0017	0	0.0012	0.0005045	78	154602	rs72649848	0.0029	0.0028	0.0030	0.0029	0.0035	0.0029	0.0028	0.0034	0.0033	0.0003	0.0014	0.0015	2.798e-05	0.0004	0.0007	0.0035	0.0020	0.0013	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0025	0.0024	0.0007	0	0.0008	0.0012	0	0.0003	0	0.0029	0.0028	0.0025	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.997043	0.81001	D	.	.	.	.	.	.	.	.	.	0.813	0.80866	-0.5360	0.67315	T	0.291	0.66230	T	6	0.055325776	0.06028	T	0.013709	0.33318	T	.	.	.	.	0.179529687257	0.17594	0.016326332534181844	0.01588	.	.	.	.	.	.	.	.	-0.212637	0.19010	T	-0.0800049	0.64903	T	0.0785122453303268	0.09796	T	0.618638	0.23716	T	.	.	.	.	.	.	.	.	-5.048	0.37357	T	.	.	0.633	0.70235	P	.	.	2.425107	0.31191	18.67	0.99942961075804371	0.99848	0.94629	0.61792	D	AEFGBI	0.627424	0.60989	D	0.41551341256545	0.62275	4.440698	0.494887005216862	0.67649	5.112584	0.999509648417427	0.40062	0.372202	0.05800	0	0.546412	0.12157	0	0.514364	0.09456	0	0.491896	0.07777	0	.	.	5.4	5.4	0.77957	4.634000	0.61023	2.741000	0.34462	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.522	0.95183	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	41	chr12	865332	.	C	T	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.721;DP=856;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.449;SOR=0.536	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr12	869088	869088	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_001184985:exon9:c.C3362G:p.S1121C,WNK1:NM_213655:exon10:c.C3617G:p.S1206C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	3	1518	1	0	0	1	0.000329272	.	.	.	1048139	Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0245555858015	.	.	8.291e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs771730773	1.916e-05	1.915e-05	2.178e-05	1.65e-05	2.987e-05	1.328e-05	1.144e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0	2.428e-05	0	0	1.314e-05	1.313e-05	0	2.689e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.065	0.92824	T	.	.	.	.	.	.	.	.	.	.	0.842434	0.81001	D	.	.	.	2.22	0.18248	T	-2.17	0.49018	N	0.353	0.43995	-1.0923	0.05159	T	0.117	0.41187	T	8	0.22407314	0.39201	T	0.024556	0.47547	T	0.123	0.34020	0.243	0.17677	0.187035705434	0.18338	0.06978577751246809	0.06916	.	.	0.416379570961	0.27339	T	.	.	.	-0.231448	0.16458	T	-0.388708	0.34704	T	0.62221223115921	0.37296	D	0.811819	0.47234	T	.	.	.	.	.	.	.	.	-7.725	0.59181	D	.	.	0.162	0.35746	B	.;.;.;.;.	.;.;.;.;.	2.685064	0.35034	19.79	0.9881878991343428	0.46753	0.91125	0.52909	D	AEFBHCI	0.571236	0.57530	D	0.637734696636939	0.75576	6.330663	0.657116523347729	0.79140	7.020222	0.999998303446751	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	4.644000	0.61092	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.119	0.89494	597	0.68309	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1792.33	33	chr12	869088	.	C	G	1792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.933;DP=796;ExcessHet=0;FS=5.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.297;SOR=1.097	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	18	0	1	0
chr12	885903	885903	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.G4358A:p.S1453N,WNK1:NM_001184985:exon19:c.G5879A:p.S1960N,WNK1:NM_018979:exon19:c.G5099A:p.S1700N,WNK1:NM_213655:exon19:c.G5855A:p.S1952N	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0578416206757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	1.368e-06	0	1.381e-06	2.523e-05	0	0	.	.	0	0	0	2.523e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.417	0.14241	T	0.763	0.43659	P	0.463	0.46548	P	0.000006	0.62929	D	0.067898	0.968796	0.25824	N	2.34	0.67151	M	-0.63	0.72011	T	-1.72	0.43906	N	0.094	0.07398	-0.6542	0.62530	T	0.272	0.64391	T	10	0.18203363	0.33463	T	0.057842	0.67109	D	0.127	0.34888	0.198	0.11110	0.292174397486	0.28832	0.31925386442080556	0.31838	0.354352016501	0.37210	0.392497718334	0.24021	T	0.091188	0.60976	T	-0.142103	0.29557	T	-0.441898	0.28596	T	0.810062527656555	0.47052	D	0.756224	0.39354	T	0.1731508	0.38046	0.22403584	0.47302	0.1731508	0.38046	0.22403584	0.47301	-5.657	0.43309	T	.	.	0.179	0.43476	B	.;.;.;.;.	.;.;.;.;.	3.188438	0.43307	21.7	0.98077795587468808	0.38078	0.92788	0.56547	D	AEFDBI	0.501689	0.53442	D	0.00120148032841683	0.41910	2.515401	0.116947028598136	0.45414	2.805098	0.871871117948984	0.25434	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.250000	0.32453	5.892000	0.50774	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0662:0.2087:0.611:0.1142	7.010	0.24034	551	0.72115	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6241.81	45	chr12	885903	.	G	A	6241.81	.	AC=2;AF=0.053;AN=38;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.9;SOR=0.733	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	18	1	0	0
chr12	1799683	1799683	A	G	exonic	CACNA2D4	.	nonsynonymous SNV	CACNA2D4:NM_172364:exon34:c.T2987C:p.F996S	Retinal cone dystrophy 4, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	102429	not_provided|not_specified|Retinal_cone_dystrophy_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012507,MedGen:C1864849,OMIM:610478,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	.	0.0047	0.00319489	0.0086	0.0022	0.0111	0	0.0071	0.0148	0.0039	0.0010	0.0040103	620	154602	rs55971855	0.0071	0.0070	0.0072	0.0070	0.0159	0.0070	0.0069	0.0132	0.0123	0.0014	0.0043	0.0164	2.693e-05	0.0023	0.0159	0.0080	0.0077	0.0012	0.0051	0.0052	0.0056	0.0047	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0099	0.0070	0.0104	0	0.0013	0.0068	0.0079	0.0043	0.0012	0.393	0.43085	T	0.041	0.51421	D	0.932	0.51990	P	0.454	0.46241	P	0.056727	0.22536	N	0.413288	0.96892	0.38693	D	1.905	0.50856	L	0.68	0.51952	T	-1.69	0.40274	N	0.488	0.53708	-0.9739	0.36366	T	0.093	0.35444	T	10	0.00739339	0.00168	T	.	.	.	0.182	0.45420	.	.	0.328222422547	0.32431	0.5544732547644405	0.55374	0.256247635266	0.28199	0.623978853226	0.56291	T	0.039004	0.25040	T	-0.282785	0.10376	T	-0.169582	0.57480	T	0.0163467810838932	0.00404	T	.	.	.	0.20095675	0.42089	0.2381343	0.49128	0.19285451	0.40971	0.2241726	0.47319	-0.975	0.01026	T	.	.	0.388	0.63162	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.692406	0.75201	26.3	0.9838928252101633	0.40936	0.93528	0.58462	D	AEFGBI	0.788805	0.71818	D	-0.0498503328821455	0.39610	2.338573	-0.027881822667088	0.38460	2.266273	0.99993265390054	0.46732	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.08	4.08	0.46880	6.215000	0.72150	10.955000	0.84425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	12.063	0.52870	818	0.41518	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.005051	0.024457	0.002924	0.000000	0.017241	0.006135	0.000000	0.05263	2155.83	40	chr12	1799683	.	A	G	2155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.267;DP=775;ExcessHet=0.119;FS=1.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.24;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	17	0	2	0
chr12	1828188	1828188	C	T	exonic	LRTM2	.	nonsynonymous SNV	LRTM2:NM_001039029:exon3:c.C40T:p.L14F,LRTM2:NM_001163925:exon3:c.C40T:p.L14F,LRTM2:NM_001163926:exon3:c.C40T:p.L14F	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0241641025656	0.0008	0.000998403	0.0018	0.0022	0.004	0	0	0.0023	0	0.0014	0.0005951	92	154602	rs190717324	0.0014	0.0013	0.0013	0.0014	0.0126	0.0013	0.0013	0.0102	0.0094	0.0004	0.0020	0.0006	2.815e-05	0.0001	0.0126	0.0014	0.0021	0.0011	0.0012	0.0012	0.0012	0.0013	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0	0.0034	0.0019	0.0019	0.0014	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.272	0.39956	B	0.742344	0.09766	N	0.843859	0.958082	0.26237	N	0.805	0.20218	L	0.37	0.79376	T	-0.72	0.20358	N	0.148	0.15046	-0.8995	0.48044	T	0.224	0.58843	T	10	0.006358981	0.00144	T	0.024164	0.47155	T	0.082	0.23913	.	.	0.345684270296	0.34182	0.4051114719795391	0.40427	0.329454099554	0.35053	0.387102901936	0.23261	T	0.015047	0.12694	T	-0.347892	0.04861	T	-0.278667	0.46940	T	0.0360669237889397	0.02992	T	.	.	.	0.17773558	0.38756	0.19920135	0.43790	0.17773558	0.38755	0.19920135	0.43789	-5.649	0.43237	T	.	.	0.062	0.04806	B	.;.;.;.;.	.;.;.;.;.	2.061174	0.26204	17.04	0.99343786160497871	0.60291	0.34503	0.25083	N	AEFDBCI	0.118871	0.23226	N	-0.250643468581472	0.31077	1.739079	-0.23923775848073	0.30143	1.694729	0.693930864176222	0.22620	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.11	3.21	0.35933	2.076000	0.41172	1.603000	0.27594	0.599000	0.40250	0.818000	0.29961	0.998000	0.33993	0.896000	0.43308	0.0:0.8859:0.0:0.1141	7.975	0.29312	808	0.43318	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008287	0.006579	0.007905	0.003448	0.000000	0.045455	0.011450	0.000000	0.02632	832.33	33	chr12	1828188	.	C	T	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.383;SOR=0.586	GT:AD:DP:GQ:PL	0/1:29,36:65:99:846,0,700	18	0	1	0
chr12	1831277	1831277	G	A	exonic	LRTM2	.	nonsynonymous SNV	LRTM2:NM_001039029:exon4:c.G410A:p.R137Q,LRTM2:NM_001163925:exon4:c.G410A:p.R137Q,LRTM2:NM_001163926:exon4:c.G410A:p.R137Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0080929447482	0.0002	0.000599042	0.0003	0	0	0	0	3.005e-05	0	0.0018	0.0002199	34	154602	rs145662837	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0014	0.0014	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	0.0001	0.0004	0.0017	0.0001	0.0001	7.708e-05	0.0001	0.0021	7.086e-05	5.743e-05	0.0011	0.0009	2.406e-05	0	0	0	0	0	0.0034	7.349e-05	0	0.0021	0.371	0.11514	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.023511	0.26429	N	0.456652	1	0.81001	D	0.455	0.12820	N	0.48	0.55945	T	1.15	0.01151	N	0.068	0.04072	-1.0389	0.17648	T	0.084	0.32729	T	10	0.0056796074	0.00126	T	0.008093	0.21444	T	0.051	0.14325	.	.	0.465138348474	0.46142	0.20276272840878753	0.20193	0.349840162037	0.36829	0.295310497284	0.09703	T	0.011419	0.10189	T	-0.568115	0.00227	T	-0.602065	0.12638	T	0.0158198531620855	0.00370	T	.	.	.	0.028623197	0.02227	0.040216383	0.04296	0.028623197	0.02227	0.040216383	0.04295	-4.33	0.28596	T	.	.	0.060	0.01026	B	.;.;.	.;.;.	0.903142	0.12774	9.289	0.85154934865563736	0.15719	0.04996	0.10770	N	ALL	0.120950	0.23537	N	-0.760607776504212	0.14346	0.713907	-0.640625283810686	0.18453	0.9858732	0.999999994565892	0.74766	0.623204	0.39778	0	0.616487	0.53143	0	0.378051	0.06126	2	0.341033	0.05752	3	.	.	5.25	0.382	0.15457	2.037000	0.40795	1.908000	0.29627	-0.116000	0.14526	0.998000	0.41325	1.000000	0.68203	0.074000	0.16894	0.6734:0.0:0.3266:0.0	8.536	0.32525	803	0.44167	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1716.33	34	chr12	1831277	.	G	A	1716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=1.08;SOR=0.712	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr12	1953157	1953157	-	TGCTGC	exonic	DCP1B	.	nonframeshift insertion	DCP1B:NM_152640:exon7:c.782_783insGCAGCA:p.Q261_E262insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0010	0.0017	0.0047	0	0.0016	0	0.0058	0.0004226	11	26028	rs149912567	0.0016	0.0016	0.0015	0.0018	0.0082	0.0016	0.0016	0.0075	0.0072	0.0015	0.0014	3.951e-05	0.0082	0.0003	0.0009	0.0012	0.0023	0.0051	0.0015	0.0015	0.0014	0.0015	0.0040	0.0013	0.0012	0.0026	0.0022	0.0014	0	0.0015	0.0003	0.0034	9.79e-05	0	0.0014	0.0029	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	28312.7	44	chr12	1953157	.	T	TTGCTGC	28312.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.206;DP=1545;ExcessHet=0.0026;FS=0.657;InbreedingCoeff=0.5682;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=31.42;ReadPosRankSum=0.239;SOR=0.632	GT:AD:DP:GQ:PL	0/0:2,0:103:99:3438,3445,3489	18	0	1	0
chr12	2115283	2115283	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon2:c.G109A:p.G37R,CACNA1C:NM_001129827:exon2:c.G109A:p.G37R,CACNA1C:NM_001129829:exon2:c.G109A:p.G37R,CACNA1C:NM_001129830:exon2:c.G109A:p.G37R,CACNA1C:NM_001129831:exon2:c.G109A:p.G37R,CACNA1C:NM_001129832:exon2:c.G109A:p.G37R,CACNA1C:NM_001129833:exon2:c.G109A:p.G37R,CACNA1C:NM_001129834:exon2:c.G109A:p.G37R,CACNA1C:NM_001129835:exon2:c.G109A:p.G37R,CACNA1C:NM_001129836:exon2:c.G109A:p.G37R,CACNA1C:NM_001129837:exon2:c.G109A:p.G37R,CACNA1C:NM_001129838:exon2:c.G109A:p.G37R,CACNA1C:NM_001129839:exon2:c.G109A:p.G37R,CACNA1C:NM_001129840:exon2:c.G109A:p.G37R,CACNA1C:NM_001129841:exon2:c.G109A:p.G37R,CACNA1C:NM_001129842:exon2:c.G109A:p.G37R,CACNA1C:NM_001129843:exon2:c.G109A:p.G37R,CACNA1C:NM_001129844:exon2:c.G109A:p.G37R,CACNA1C:NM_001129846:exon2:c.G109A:p.G37R,CACNA1C:NM_001167623:exon2:c.G109A:p.G37R,CACNA1C:NM_001167624:exon2:c.G109A:p.G37R,CACNA1C:NM_001167625:exon2:c.G109A:p.G37R,CACNA1C:NM_199460:exon2:c.G109A:p.G37R	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	99298	not_provided|Long_QT_syndrome|Timothy_syndrome|Brugada_syndrome_3|Long_qt_syndrome_8|Cardiovascular_phenotype|not_specified|CACNA1C-related_disorder	MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.655	.	0.0023	0.000399361	0.0074	0.0012	0.0029	0	0.0138	0.0117	0.0085	0.0003	0.0031112	481	154602	rs34534613	0.0040	0.0040	0.0041	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0005	0.0021	0.0012	0	0.0095	0.0021	0.0045	0.0030	0.0004	0.0033	0.0033	0.0033	0.0032	0.0046	0.0030	0.0030	0.0042	0.0041	0.0009	0	0.0020	0.0017	0	0.0094	0	0.0046	0.0038	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.967	0.92359	D	0.135284	0.18486	N	0.513281	1	0.81001	D	1.445	0.36358	L	-3.84	0.95953	D	-6.57	0.91912	D	0.762	0.84713	0.998	0.97153	D	0.903	0.96775	D	10	0.011658281	0.00254	T	.	.	.	0.655	0.87035	0.365	0.37199	0.982930901542	0.98275	0.7641679914172304	0.76364	1.95920376204	0.93432	0.863642573357	0.91647	D	0.057648	0.33047	T	0.149164	0.69190	D	0.446615	0.93494	D	0.0352199957162357	0.02846	T	.	.	.	.	.	.	.	.	.	.	.	-4.74	0.33884	T	.	.	0.942	0.86088	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.940665	0.81535	27.6	0.99924626237331449	0.98980	0.99853	0.99842	D	AEFDBI	0.966063	0.98845	D	0.635900726724593	0.75460	6.309638	0.605399473608799	0.75332	6.291744	0.999999999999953	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.77	5.77	0.91077	9.757000	0.98114	11.800000	0.96626	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:0.0:1.0:0.0	19.979	0.97318	880	0.29376	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1566.33	34	chr12	2115283	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=739;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.257;SOR=0.55	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1153	18	0	1	0
chr12	2585465	2585465	C	T	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129827:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129829:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129830:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129831:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129832:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129833:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129834:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129835:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129836:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129837:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129838:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129839:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129840:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129841:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129842:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129843:exon17:c.C2429T:p.T810M,CACNA1C:NM_001129844:exon17:c.C2420T:p.T807M,CACNA1C:NM_001129846:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167623:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167624:exon17:c.C2429T:p.T810M,CACNA1C:NM_001167625:exon17:c.C2429T:p.T810M,CACNA1C:NM_199460:exon17:c.C2429T:p.T810M	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1496690	Brugada_syndrome_3|Long_qt_syndrome_8|Timothy_syndrome|Cardiovascular_phenotype|Long_QT_syndrome	MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MedGen:CN230736|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.503	0.0568166057925	.	.	2.328e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs772235214	1.823e-05	1.984e-05	1.944e-05	1.699e-05	0.0002	1.268e-05	1.077e-05	1.234e-05	1.047e-05	0	0	0	2.611e-05	0	0.0002	1.921e-05	1.695e-05	2.441e-05	3.943e-05	3.94e-05	1.285e-05	6.726e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.351e-05	0	0	0.04	0.45039	D	0.153	0.32249	T	0.975	0.90584	D	0.584	0.88582	P	0.000364	0.00582	N	4.652110	1	0.81001	D	2.28	0.64929	M	-3.92	0.96308	D	-1.5	0.37759	N	0.745	0.83066	0.340	0.88181	D	0.936	0.97900	D	10	0.7661046	0.76716	D	0.056817	0.66741	D	0.503	0.78538	0.201	0.11522	0.878068277675	0.87688	0.4734164363851332	0.47260	1.87575306562	0.92559	0.690069437027	0.65717	T	0.022564	0.20855	T	0.393962	0.89562	D	0.328122	0.89431	D	0.695243775844574	0.40493	D	.	.	.	.	.	.	.	.	.	.	.	-7.36	0.57137	T	.	.	0.264	0.67433	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.292159	0.65461	24.8	0.99917275070510481	0.98518	0.99204	0.92767	D	AEFDBI	0.950875	0.96492	D	0.58913954493757	0.72497	5.814952	0.606985941294099	0.75446	6.311966	0.999999999997102	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	7.561000	0.81256	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.274000	0.23868	0.0:1.0:0.0:0.0	20.478	0.99191	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1551.33	33	chr12	2585465	.	C	T	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=751;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.91;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	18	0	1	0
chr12	2677831	2677831	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129838:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129839:exon40:c.G5073C:p.E1691D,CACNA1C:NM_001129846:exon40:c.G5022C:p.E1674D,CACNA1C:NM_001167625:exon40:c.G5022C:p.E1674D,CACNA1C:NM_000719:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129829:exon41:c.G5178C:p.E1726D,CACNA1C:NM_001129830:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129833:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129834:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129835:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129836:exon41:c.G5106C:p.E1702D,CACNA1C:NM_001129840:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129841:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129842:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129843:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129844:exon41:c.G5046C:p.E1682D,CACNA1C:NM_001167623:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001167624:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129831:exon42:c.G5139C:p.E1713D,CACNA1C:NM_001129832:exon42:c.G5115C:p.E1705D,CACNA1C:NM_001129827:exon43:c.G5199C:p.E1733D,CACNA1C:NM_199460:exon43:c.G5199C:p.E1733D	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.0984370134189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.40573	T	0.062	0.52389	T	0.808	0.63424	P	0.275	0.74454	B	0.957208	0.08248	N	0.976724	0.999467	0.47157	D	2.315	0.66250	M	-4.09	0.96772	D	-1.94	0.45042	N	0.485	0.56748	0.719	0.93405	D	0.898	0.96605	D	10	0.30664805	0.48173	T	0.098437	0.76941	D	0.516	0.79340	0.341	0.33302	0.854859035509	0.85346	0.6617621861880766	0.66113	0.178138410409	0.20040	0.75000667572	0.74447	T	0.010745	0.22062	T	0.187027	0.72690	D	0.0308744	0.72336	D	0.197412386536598	0.20272	T	.	.	.	.	.	.	.	.	.	.	.	-7.769	0.59485	D	.	.	0.322	0.62271	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.174263	0.43060	21.7	0.99057970756030855	0.51413	0.94609	0.61725	D	AEFBI	0.641712	0.61894	D	0.0269888870314487	0.43085	2.608398	0.0573250786890299	0.42425	2.56599	0.0455334280670845	0.14656	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.64	0.40864	1.574000	0.36091	1.450000	0.26598	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1963:0.0:0.8037:0.0	6.835	0.23115	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	272.2	35	chr12	2677831	.	G	C	272.2	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.342;DP=2053;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.59;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	12	0	2	5
chr12	2677832	2677832	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129838:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129839:exon40:c.G5074C:p.A1692P,CACNA1C:NM_001129846:exon40:c.G5023C:p.A1675P,CACNA1C:NM_001167625:exon40:c.G5023C:p.A1675P,CACNA1C:NM_000719:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129829:exon41:c.G5179C:p.A1727P,CACNA1C:NM_001129830:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129833:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129834:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129835:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129836:exon41:c.G5107C:p.A1703P,CACNA1C:NM_001129840:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129841:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129842:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129843:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129844:exon41:c.G5047C:p.A1683P,CACNA1C:NM_001167623:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001167624:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129831:exon42:c.G5140C:p.A1714P,CACNA1C:NM_001129832:exon42:c.G5116C:p.A1706P,CACNA1C:NM_001129827:exon43:c.G5200C:p.A1734P,CACNA1C:NM_199460:exon43:c.G5200C:p.A1734P	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.168125990135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27904	T	0.324	0.19016	T	0.001	0.53992	B	0.004	0.55764	B	0.955475	0.08259	N	0.975185	0.99874	0.45372	D	0.51	0.13489	N	-3.91	0.96277	D	-1.11	0.33798	N	0.194	0.30233	0.566	0.91455	D	0.862	0.95418	D	10	0.1827906	0.33575	T	0.168126	0.84631	D	0.312	0.63375	0.359	0.36222	0.526448013984	0.52292	0.8296726985909174	0.82925	0.247068042511	0.27244	0.755146980286	0.75208	T	0.009692	0.20449	T	0.0676861	0.60565	T	-0.14055	0.60069	T	0.401444281778735	0.28996	T	.	.	.	.	.	.	.	.	.	.	.	-12.063	0.87069	D	.	.	0.947	0.89314	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.226746	0.63974	24.6	0.97515105936428548	0.34373	0.94381	0.60984	D	AEFBI	0.849904	0.76673	D	-0.213977285304823	0.32560	1.837526	-0.0751978937003241	0.36420	2.119189	0.803149056102645	0.24221	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	4.245000	0.58529	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.639	0.88034	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	268.58	35	chr12	2677832	.	G	C	268.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.428;DP=1562;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.58;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	16	0	2	1
chr12	2679502	2679502	C	G	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129838:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129839:exon41:c.C5168G:p.A1723G,CACNA1C:NM_001129846:exon41:c.C5117G:p.A1706G,CACNA1C:NM_001167625:exon41:c.C5117G:p.A1706G,CACNA1C:NM_000719:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129829:exon42:c.C5273G:p.A1758G,CACNA1C:NM_001129830:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129833:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129834:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129835:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129836:exon42:c.C5201G:p.A1734G,CACNA1C:NM_001129840:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129841:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129842:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129843:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129844:exon42:c.C5141G:p.A1714G,CACNA1C:NM_001167623:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001167624:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129831:exon43:c.C5234G:p.A1745G,CACNA1C:NM_001129832:exon43:c.C5210G:p.A1737G,CACNA1C:NM_001129827:exon44:c.C5294G:p.A1765G,CACNA1C:NM_199460:exon44:c.C5294G:p.A1765G	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	1	1502	17	2	0	21	0.00694215	.	.	.	99318	Restrictive_cardiomyopathy|Long_QT_syndrome|not_specified|Timothy_syndrome|Brugada_syndrome_3|Neurodevelopmental_disorder_with_hypotonia,_language_delay,_and_skeletal_defects_with_or_without_seizures|Long_qt_syndrome_8|Brugada_syndrome|not_provided|CACNA1C-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0859286,MedGen:C5774213,OMIM:620029|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:C3661900|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.0800406640615	.	0.000399361	0.0008	0	0.0009	0	0	0.0010	0.005	0.0007	0.0005821	90	154602	rs201492706	0.0006	0.0006	0.0006	0.0006	0.0085	0.0006	0.0006	0.0066	0.0059	0.0004	0.0013	0.0066	0	0	0.0085	0.0004	0.0013	0.0006	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0001	0	0.0010	0.0043	0	0	0	0.0005	0.0024	0.0002	0.059	0.41915	T	0.429	0.17372	T	0.0	0.19406	B	0.0	0.27651	B	0.382812	0.04431	N	1.360050	0.670638	0.30367	N	-0.205	0.04094	N	-3.87	0.96143	D	-1.06	0.28084	N	0.147	0.24135	-0.0047	0.82159	T	0.734	0.90894	D	10	0.0071842372	0.00163	T	0.080041	0.73371	D	0.267	0.58126	.	.	0.590116201424	0.58688	0.4280073591306489	0.42717	0.190823183694	0.21393	0.28883254528	0.08753	T	0.011992	0.19579	T	-0.297371	0.08911	T	-0.245481	0.50263	T	0.0210347424677146	0.00804	T	.	.	.	.	.	.	.	.	.	.	.	-3.897	0.22258	T	.	.	0.100	0.18746	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.393269	0.46987	22.4	0.99379360935189032	0.61803	0.92260	0.55304	D	AEFDBI	0.722037	0.67209	D	-0.324649992842567	0.28214	1.554398	-0.143969151558518	0.33640	1.926487	0.999909732106835	0.45458	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.64	3.72	0.41857	3.621000	0.53951	3.497000	0.38753	-0.305000	0.06155	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.1509:0.7123:0.1368:0.0	10.797	0.45666	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.030303	0.014946	0.020468	0.000000	0.008621	0.003049	0.000000	0.02632	1886.33	38	chr12	2679502	.	C	G	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.807;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.216;SOR=0.778	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1900,0,1238	18	0	1	0
chr12	2679772	2679772	T	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.T5444C:p.V1815A,CACNA1C:NM_001129838:exon41:c.T5444C:p.V1815A,CACNA1C:NM_001129839:exon41:c.T5438C:p.V1813A,CACNA1C:NM_001129846:exon41:c.T5387C:p.V1796A,CACNA1C:NM_001167625:exon41:c.T5387C:p.V1796A,CACNA1C:NM_000719:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129829:exon42:c.T5543C:p.V1848A,CACNA1C:NM_001129830:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129833:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129834:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129835:exon42:c.T5477C:p.V1826A,CACNA1C:NM_001129836:exon42:c.T5471C:p.V1824A,CACNA1C:NM_001129840:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129841:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129842:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129843:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129844:exon42:c.T5411C:p.V1804A,CACNA1C:NM_001167623:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001167624:exon42:c.T5420C:p.V1807A,CACNA1C:NM_001129831:exon43:c.T5504C:p.V1835A,CACNA1C:NM_001129832:exon43:c.T5480C:p.V1827A,CACNA1C:NM_001129827:exon44:c.T5564C:p.V1855A,CACNA1C:NM_199460:exon44:c.T5564C:p.V1855A	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0805709828546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	0.03741	T	0.69	0.09621	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	0.999788	0.20447	N	-1.7	0.00354	N	-3.72	0.95629	D	0.32	0.05217	N	0.083	0.12198	-0.4550	0.70234	T	0.501	0.81139	D	9	0.033830523	0.01570	T	0.080571	0.73490	D	0.271	0.58633	0.309	0.28128	0.240615537116	0.23683	0.3717506590059687	0.37089	0.228357691727	0.25387	0.3357462883	0.15800	T	9.84E-4	0.03887	T	-0.0964123	0.37019	T	-0.376266	0.36159	T	0.0267796627588227	0.01514	T	.	.	.	.	.	.	.	.	.	.	.	-2.279	0.04528	T	.	.	0.077	0.16973	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.506885	0.32374	19.02	0.82096813590510498	0.14017	0.02605	0.07176	N	AEFBI	0.040843	0.06131	N	-0.850625170966091	0.12034	0.5842019	-0.67085653258727	0.17692	0.9418178	0.957078990426814	0.28283	0.516011	0.20929	0	0.610034	0.51514	0	0.603688	0.36954	0	0.564101	0.26826	0	.	.	4.92	2.05	0.25860	4.134000	0.57751	3.215000	0.36822	-0.349000	0.05595	0.994000	0.38300	0.998000	0.33993	0.653000	0.32775	0.0:0.7376:0.0:0.2624	7.776	0.28199	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr12	2679772	.	T	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.581;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.506;SOR=0.631	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,15:80:99:0|1:4591261_G_C:107,0,2178:4591261	5	0	14	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	163.93	42	chr12	4591262	.	T	C	163.93	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.113;DP=1141;ExcessHet=0.3672;FS=123.102;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.694;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,15:80:99:0|1:4591261_G_C:107,0,2178:4591261	15	0	3	1
chr12	4627344	4627344	A	G	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.T1558C:p.S520P,AKAP3:NM_006422:exon5:c.T1558C:p.S520P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00718109979497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.96	0.55278	D	0.761	0.56482	P	0.002083	0.37271	N	0.123694	0.554235	0.31309	N	2.71	0.79292	M	2.97	0.09450	T	-1.63	0.39119	N	0.621	0.63628	-1.0403	0.17223	T	0.047	0.19958	T	10	0.5375057	0.63531	D	0.007181	0.19034	T	0.135	0.36572	0.507	0.60232	0.505273739051	0.50166	0.6255078723082482	0.62483	0.627797579634	0.56854	0.510618448257	0.40310	T	0.020554	0.16160	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.869876325130463	0.51980	D	0.664534	0.27348	T	0.3316064	0.55602	0.38026905	0.63063	0.3316064	0.55602	0.38026905	0.63063	-2.994	0.10116	T	.	.	0.141	0.31048	B	.;.	.;.	3.095856	0.41708	21.4	0.99783022345333794	0.86955	0.14439	0.18403	N	AEFBI	0.169682	0.29653	N	0.0762586144468796	0.45356	2.79358	-0.0464928908324806	0.37642	2.206769	0.00230981710410912	0.09310	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.65	3.08	0.34576	1.678000	0.37202	4.383000	0.43188	0.756000	0.94297	0.905000	0.31549	0.999000	0.35428	0.921000	0.45669	0.6011:0.1508:0.0:0.2481	5.617	0.16716	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2281.33	169	chr12	4627344	.	A	G	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=2582;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-2.276;SOR=0.62	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	18	0	1	0
chr12	4627446	4627446	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1456T:p.R486C,AKAP3:NM_006422:exon5:c.C1456T:p.R486C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00240830151806	.	0.000199681	3.316e-05	9.634e-05	0	0	0	4.52e-05	0	0	3.23e-05	5	154602	rs544521521	1.779e-05	1.779e-05	2.042e-05	1.513e-05	3.478e-05	1.238e-05	1.052e-05	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	1.656e-05	3.478e-05	3.94e-05	3.937e-05	5.14e-05	2.686e-05	7.22e-05	1.715e-05	1.129e-05	1.914e-05	1.031e-05	7.22e-05	0	0	0	0	0	0	4.41e-05	0	0	0.168	0.23007	T	0.202	0.27414	T	0.0	0.02946	B	0.0	0.01387	B	0.189330	0.03239	N	1.584710	1	0.08975	N	-1.39	0.00611	N	3.19	0.07353	T	1.28	0.00973	N	0.073	0.04668	-0.9715	0.36883	T	0.008	0.02638	T	10	0.027986377	0.00936	T	0.002408	0.04729	T	0.011	0.01250	0.548	0.66296	0.124217242631	0.12060	0.07153102202310653	0.07090	0.164878734675	0.18604	0.27451261878	0.06739	T	0.002619	0.02014	T	-0.511815	0.00490	T	-0.791435	0.02125	T	0.0280312091148512	0.01693	T	0.255674	0.03967	T	0.046129607	0.07667	0.03517747	0.02721	0.046129607	0.07667	0.03517747	0.02721	-4.802	0.34615	T	.	.	0.076	0.06159	B	.;.	.;.	0.401800	0.07729	4.410	0.65827763670060857	0.07883	0.00128	0.00795	N	AEFBI	0.027715	0.02315	N	-1.50006019006897	0.01850	0.08113272	-1.47398754623455	0.02559	0.1179286	0.00363945083627561	0.10212	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	-3.37	0.04591	-0.296000	0.08323	-1.236000	0.05946	-0.040000	0.17491	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2656:0.4195:0.1391:0.1759	2.453	0.04246	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2234.33	169	chr12	4627446	.	G	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=2814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.433;SOR=0.685	GT:AD:DP:GQ:PL	0/0:178,0:178:99:0,120,1800	18	0	1	0
chr12	4627595	4627595	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1307T:p.S436F,AKAP3:NM_006422:exon5:c.C1307T:p.S436F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00740680652114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.974e-05	2.3e-07	9e-08	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.035	0.52389	D	0.918	0.50838	P	0.606	0.50970	P	0.587794	0.11079	N	0.809804	1	0.08975	N	2.39	0.68882	M	3.18	0.07478	T	-2.03	0.46673	N	0.147	0.17553	-1.0560	0.12776	T	0.040	0.17191	T	10	0.1535809	0.28987	T	0.007407	0.19657	T	0.074	0.21613	0.408	0.44230	0.413891365518	0.41003	0.07674404711919186	0.07610	0.430453523521	0.43287	0.303099751472	0.10864	T	0.019031	0.15236	T	-0.229191	0.16757	T	-0.566994	0.15726	T	0.483978062868118	0.32043	T	0.542646	0.18460	T	0.092072114	0.21592	0.16817556	0.38757	0.092072114	0.21591	0.16817556	0.38756	-4.406	0.29638	T	.	.	0.131	0.33710	B	.;.	.;.	2.776924	0.36468	20.3	0.99542652153196576	0.70586	0.08606	0.14512	N	AEFBI	0.112028	0.22159	N	-0.243498262190187	0.31363	1.757863	-0.404001304772486	0.24880	1.364929	0.00199923207236591	0.09070	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.77	2.91	0.32903	2.070000	0.41116	4.210000	0.42525	0.676000	0.76740	0.014000	0.18986	0.915000	0.28207	0.021000	0.11733	0.0:0.4287:0.5713:0.0	14.330	0.66109	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2180.33	185	chr12	4627595	.	G	A	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=2538;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-2.02;SOR=0.772	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	18	0	1	0
chr12	4772572	4772572	A	G	exonic	GALNT8	.	nonsynonymous SNV	GALNT8:NM_017417:exon11:c.A1889G:p.D630G	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0229357241757	0.0005	0.000399361	0.0015	9.617e-05	0.0011	0	0.0002	0.0012	0.0066	0.0049	0.0012807	198	154602	rs16931692	0.0009	0.0009	0.0006	0.0011	0.0060	0.0008	0.0008	0.0046	0.0044	8.961e-05	0.0011	0.0016	0	0.0004	0.0060	0.0006	0.0011	0.0050	0.0007	0.0007	0.0006	0.0007	0.0031	0.0006	0.0005	0.0019	0.0016	0.0002	0	0.0013	0.0017	0	0.0004	0.0034	0.0007	0.0009	0.0031	0.018	0.50676	D	0.043	0.49942	D	0.146	0.27821	B	0.038	0.23361	B	0.297485	0.03934	N	1.565220	0.999996	0.08975	N	1.1	0.28011	L	0.53	0.55090	T	-1.46	0.35792	N	0.098	0.07949	-1.0423	0.16621	T	0.096	0.36055	T	10	0.016783774	0.00355	T	0.022936	0.45870	T	0.011	0.01250	.	.	0.3085936734	0.30458	0.34497380515137493	0.34411	0.123760321579	0.13926	0.297297388315	0.09998	T	0.002731	0.02125	T	-0.519147	0.00445	T	-0.517404	0.20559	T	0.011571435639183	0.00175	T	0.40256	0.10281	T	0.09416991	0.22135	0.08650799	0.20048	0.09416991	0.22134	0.08650799	0.20048	-2.684	0.07170	T	.	.	0.297	0.52784	B	.;.	.;.	0.886887	0.12600	9.129	0.97037121622427391	0.32093	0.05499	0.11386	N	AEFDGBI	0.059337	0.11199	N	-0.909165914732136	0.10627	0.5087249	-0.927687417280739	0.11442	0.5829333	0.0131371476669435	0.12421	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	4.23	1.83	0.24279	0.190000	0.16864	0.104000	0.14688	0.756000	0.94297	0.018000	0.19461	0.000000	0.08366	0.028000	0.12845	0.6801:0.2104:0.1096:0.0	4.125	0.09590	793	0.45818	.;Ricin B, lectin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.000000	0.05263	7143.83	43	chr12	4772572	.	A	G	7143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=1078;ExcessHet=0.119;FS=1.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.883;SOR=0.861	GT:AD:DP:GQ:PL	0/1:115,154:269:99:4249,0,2855	17	0	2	0
chr12	5994429	5994429	G	A	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon36:c.C6242T:p.T2081M	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3338799	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	0.0234382239201	7.7e-05	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs368207430	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0002	2.478e-05	2.22e-05	2.995e-05	2.305e-05	2.987e-05	0	0	0	0	0.0002	3.507e-05	0	6.956e-05	6.572e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.366	0.11696	T	0.32	0.19131	T	0.164	0.28467	B	0.049	0.25116	B	0.378588	0.13422	N	0.662648	0.999998	0.08975	N	1.025	0.25523	L	-0.35	0.68616	T	-2.71	0.57762	D	0.24	0.27077	-1.0432	0.16354	T	0.149	0.47505	T	10	0.35249507	0.52076	T	0.023438	0.46400	T	0.187	0.46274	.	.	0.47432691512	0.47060	0.7701468375108547	0.76963	0.280192948773	0.30498	0.249874025583	0.03754	T	0.449681	0.79109	T	-0.0827611	0.39263	T	-0.356657	0.38440	T	0.181710675358772	0.19343	T	0.606339	0.22814	T	0.0350214	0.04044	0.0979802	0.23343	0.0350214	0.04044	0.0979802	0.23343	-7.361	0.56629	T	0.16154453567252566	0.19784	0.062	0.01290	B	.	.	-0.509867	0.01836	0.146	0.39555278548315181	0.02736	0.05630	0.11539	N	AEFGBCI	0.143725	0.26650	N	-1.46422396376884	0.02107	0.09270922	-1.55087224267752	0.01970	0.08996739	0.997789810157631	0.36027	0.67177	0.52595	0	0.563428	0.19063	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.91	-5.64	0.02269	-0.215000	0.09284	-0.163000	0.11303	-1.494000	0.01041	0.001000	0.13787	0.000000	0.08366	0.031000	0.13245	0.3556:0.0:0.6444:0.0	15.121	0.72119	936	0.14734	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1740.33	37	chr12	5994429	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.814;SOR=0.675	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	6011720	6011720	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon34:c.G5739C:p.K1913N	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0327900886189	.	.	9.561e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753735116	5.063e-05	5.062e-05	2.723e-05	7.427e-05	0.0008	4.126e-05	3.779e-05	0.0006	0.0006	0	2.237e-05	0	0	0	0	8.994e-07	4.97e-05	0.0008	6.571e-06	6.566e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.08	0.33585	T	0.064	0.44905	T	0.0	0.02946	B	0.001	0.04355	B	0.934028	0.08400	N	0.961113	0.967414	0.25849	N	0.92	0.23413	L	1.24	0.36691	T	-0.6	0.17834	N	0.161	0.16864	-1.0701	0.09391	T	0.079	0.31435	T	10	0.06877461	0.09775	T	0.03279	0.54518	D	0.080	0.23350	0.328	0.31196	0.353974658523	0.35008	0.5667951632711749	0.56607	0.314614938992	0.33745	0.283397555351	0.07971	T	0.280974	0.65369	T	-0.576228	0.00203	T	-0.682272	0.06846	T	0.0487295351922512	0.05275	T	0.528347	0.17454	T	0.13985209	0.32289	0.062144067	0.12111	0.13985209	0.32289	0.062144067	0.12110	-3.921	0.22617	T	0.10457413362778936	0.08195	0.154	0.34116	B	.	.	2.082415	0.26487	17.13	0.99284123865464036	0.58008	0.90646	0.51995	D	AEFGBI	0.520247	0.54518	D	-0.409313532718587	0.25141	1.36263	-0.336487163282305	0.26930	1.490869	0.416781179308542	0.20258	0.722319	0.85440	0	0.563428	0.19063	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.03	1.07	0.19399	1.775000	0.38213	0.102000	0.14662	0.599000	0.40250	1.000000	0.71638	0.015000	0.20450	0.689000	0.33808	0.2979:0.552:0.0:0.1501	5.733	0.17320	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	857.33	33	chr12	6011720	.	C	G	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=692;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.14;MQRankSum=-0.123;QD=12.99;ReadPosRankSum=0.424;SOR=0.959	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	18	0	1	0
chr12	6029365	6029365	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon22:c.G2944C:p.V982L	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4011434	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.106100374593	7.7e-05	.	2.475e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs376548659	3.147e-05	3.147e-05	2.722e-05	3.575e-05	3.957e-05	2.412e-05	2.157e-05	2.999e-05	2.671e-05	0	0	0	0	0	0	3.957e-05	3.311e-05	0	2.629e-05	2.627e-05	2.569e-05	2.691e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.086	0.32610	T	0.01	0.65728	D	0.948	0.53620	P	0.794	0.57880	P	0.003340	0.35096	N	0.000000	0.999828	0.49512	D	2.15	0.60148	M	0.13	0.60973	T	-1.65	0.39503	N	0.544	0.57092	-0.6178	0.64080	T	0.261	0.63186	T	10	0.6832323	0.71406	D	0.106	0.78153	D	0.341	0.66297	0.62	0.75461	0.592685350901	0.58946	0.8359418656330972	0.83554	0.716451841279	0.61991	0.51848590374	0.41412	T	0.33906	0.70825	T	-0.123705	0.32520	T	-0.259105	0.48914	T	0.522292852401733	0.33450	D	0.844016	0.52137	T	0.48072296	0.65944	0.14383043	0.34169	0.48072296	0.65944	0.14383043	0.34168	-5.047	0.37346	T	0.3000377559728855	0.39734	0.217	0.44656	B	.	.	3.045387	0.40845	21.2	0.9954109849801539	0.70523	0.93885	0.59473	D	AEFBCI	0.741790	0.68561	D	0.343163753696051	0.58380	4.009804	0.281545025948107	0.54463	3.611149	0.998972915642336	0.38110	0.722319	0.85440	0	0.59043	0.45803	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	4.023000	0.56921	4.809000	0.45027	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.005000	0.06747	0.0:0.9135:0.0:0.0865	12.061	0.52858	929	0.16858	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	35	chr12	6029365	.	C	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.171;DP=793;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.23;SOR=0.836	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	18	0	1	0
chr12	6062968	6062968	T	C	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon13:c.A1519G:p.R507G	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1152521	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.155155990288	.	0.00179712	0.0006	0	0	0.0075	0	1.58e-05	0.0012	0.0003	0.0005692	88	154602	rs189409574	0.0003	0.0003	0.0003	0.0003	0.0081	0.0002	0.0002	0.0074	0.0071	0	2.237e-05	0	0.0081	0	0	4.497e-06	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.534e-05	0	0.0083	0	0	0	0	0.0004	0.068	0.35726	T	0.084	0.41239	T	0.994	0.66517	D	0.985	0.76457	D	0.010987	0.29704	N	0.156443	0.938811	0.37239	D	1.8	0.47472	L	0.12	0.61089	T	-3.63	0.69714	D	0.388	0.42931	-0.6148	0.64205	T	0.235	0.60209	T	10	0.015665859	0.00329	T	0.155156	0.83615	D	0.270	0.58507	.	.	0.735289592754	0.73292	0.8434810525576213	0.84309	0.716724519433	0.62011	0.253543376923	0.04150	T	0.488385	0.81405	T	-0.373158	0.03438	T	-0.300831	0.44637	T	0.0722369363090276	0.08961	T	0.80142	0.44736	T	0.41904154	0.62028	0.3204465	0.57999	0.41904154	0.62028	0.3204465	0.57999	-7.26	0.55911	T	0.17828101851359965	0.22841	0.136	0.29533	B	.	.	3.677896	0.52339	23.2	0.99774909156149305	0.86260	0.40343	0.26415	N	AEFDGBCI	0.548730	0.56190	D	-0.0430544594344607	0.39914	2.361569	-0.0737879825207751	0.36477	2.123379	0.999999032925301	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.600433	0.31921	0	0.735409	0.98432	0	.	.	5.18	4.02	0.45968	0.519000	0.22570	0.671000	0.20594	0.665000	0.62972	0.026000	0.20160	0.787000	0.26830	0.931000	0.46843	0.0:0.0915:0.1765:0.732	5.972	0.18590	900	0.24599	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1047.33	41	chr12	6062968	.	T	C	1047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.123;DP=723;ExcessHet=0;FS=1.718;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.456;SOR=0.848	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1066	18	0	1	0
chr12	6388415	6388415	G	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon7:c.G628T:p.A210S,LTBR:NM_002342:exon7:c.G685T:p.A229S	.	383	1106	32	1	0	34	0.015138	.	.	.	725226	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.298	.	0.0044	0.00419329	0.0052	0.0012	0.0048	0.0001	0.0006	0.0055	0.0122	0.0107	0.0049999	773	154602	rs41332645	0.0059	0.0060	0.0058	0.0061	0.0105	0.0058	0.0058	0.0100	0.0097	0.0008	0.0036	0.0057	2.519e-05	0.0004	0.0087	0.0063	0.0060	0.0105	0.0040	0.0040	0.0041	0.0039	0.0083	0.0038	0.0037	0.0063	0.0055	0.0009	0.0044	0.0046	0.0046	0.0002	0.0002	0.0170	0.0062	0.0057	0.0083	0.14	0.25664	T	0.156	0.32040	T	0.447	0.36006	B	0.063	0.27082	B	0.053605	0.02051	N	2.323050	1	0.81001	D	2.31	0.66127	M	-2.2	0.86888	D	-0.45	0.14782	N	0.351	0.39254	-0.5753	0.65804	T	0.406	0.75600	T	10	0.01009208	0.00226	T	.	.	.	0.298	0.61843	.	.	0.788720867514	0.78676	0.700720663021327	0.70013	0.186489258796	0.20959	0.357159256935	0.18971	T	0.135537	0.46740	T	-0.351091	0.04659	T	-0.269133	0.47908	T	0.0104986879931563	0.00145	T	0.682032	0.29067	T	0.032337707	0.03241	0.041256744	0.04647	0.032337707	0.03241	0.041256744	0.04647	-3.886	0.22813	T	.	.	0.121	0.25000	B	.;.	.;.	2.344849	0.30055	18.32	0.96384255400607333	0.29630	0.63326	0.32055	D	AEFGBHCI	0.485854	0.52527	N	-0.571582043788752	0.19811	1.039836	-0.531999366364972	0.21286	1.150795	0.999998040825816	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	0.667	0.17076	1.393000	0.34106	3.628000	0.39306	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0938:0.3095:0.4171:0.1796	3.119	0.06002	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.000000	0.008152	0.008772	0.050000	0.000000	0.009146	0.007576	0.07895	4601.77	111	chr12	6388415	.	G	T	4601.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.341;DP=862;ExcessHet=0;FS=2.892;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=-0.069;SOR=0.95	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1154	17	1	1	0
chr12	6390242	6390242	C	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon9:c.C875T:p.A292V,LTBR:NM_002342:exon9:c.C932T:p.A311V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0520128914575	0.0018	0.00239617	0.0005	0.0052	8.648e-05	0	0	0	0	6.056e-05	0.0004398	68	154602	rs144755581	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0048	0.0046	0.0055	0.0004	0	0	0	0.0005	1.799e-06	0.0004	0	0.0015	0.0015	0.0016	0.0015	0.0053	0.0014	0.0013	0.0047	0.0045	0.0053	0	0.0005	0	0	0	0	2.941e-05	0.0029	0	0.024	0.47745	D	0.206	0.27056	T	0.02	0.18235	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	-2.22	0.87038	D	-0.69	0.19720	N	0.051	0.08088	-0.7652	0.57121	T	0.281	0.65260	T	9	0.004599929	0.00096	T	0.052013	0.64898	D	0.056	0.15993	.	.	0.547470054201	0.54402	0.13114489378442432	0.13039	0.0845813052473	0.09552	0.238382264972	0.02646	T	0.157004	0.49941	T	-0.494889	0.00611	T	-0.483246	0.24101	T	0.00393867168454773	0.00042	T	0.747925	0.36851	T	0.019597633	0.00494	0.032653004	0.02033	0.019597633	0.00494	0.032653004	0.02033	-3.753	0.20849	T	.	.	0.077	0.07507	B	.;.;.	.;.;.	-0.500740	0.01864	0.151	0.95840465314002288	0.27963	0.05638	0.11549	N	AEFDBCI	0.239329	0.36131	N	-1.16602686833279	0.05522	0.2519224	-1.16647865197813	0.06477	0.3119083	0.99995026370088	0.48110	0.706548	0.73137	0	0.59043	0.45803	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.16	1.21	0.20240	-0.893000	0.04234	-0.079000	0.12201	-0.817000	0.03001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2701:0.4981:0.1465:0.0853	3.520	0.07296	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1625.33	39	chr12	6390242	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.544;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1401	18	0	1	0
chr12	6451375	6451375	C	G	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon6:c.C766G:p.P256A	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	926719	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0590352389059	.	.	8.336e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs751930967	6.16e-06	6.156e-06	9.534e-06	2.752e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.082	0.41573	T	0.793	0.44725	P	0.283	0.40424	B	0.042964	0.01913	N	2.274430	0.990219	0.24200	N	1.75	0.45442	L	-3.7	0.95352	D	-1.74	0.41239	N	0.182	0.19728	0.073	0.83682	D	0.815	0.93780	D	10	0.20669204	0.36939	T	0.059035	0.67525	D	0.219	0.51417	0.17	0.07536	0.987335001779	0.98719	0.1530480821452121	0.15226	0.527081435524	0.50316	0.284620076418	0.08146	T	0.443625	0.78734	T	0.0870362	0.62853	D	-0.112755	0.62391	T	0.452060878276825	0.30873	T	0.60264	0.22576	T	0.09087089	0.21277	0.1641595	0.38042	0.09087089	0.21277	0.1641595	0.38041	-2.208	0.04079	T	.	.	0.077	0.06571	B	.	.	2.809198	0.36980	20.4	0.99045116835821234	0.51118	0.35164	0.25238	N	ALL	0.142048	0.26439	N	-0.1371983375187	0.35781	2.059624	-0.217570552914268	0.30906	1.744255	0.999999999994348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.07	3.18	0.35615	1.252000	0.32476	1.264000	0.25249	0.524000	0.24156	0.473000	0.26745	0.421000	0.24807	0.268000	0.23719	0.0:0.8831:0.0:0.1169	7.568	0.27057	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	913.33	37	chr12	6451375	.	C	G	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.508;DP=853;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.156;SOR=0.518	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr12	6540550	6540550	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001330324:exon9:c.C1613T:p.P538L,IFFO1:NM_001039670:exon10:c.C1625T:p.P542L,IFFO1:NM_001193457:exon10:c.C1649T:p.P550L,IFFO1:NM_001330325:exon10:c.C1619T:p.P540L,IFFO1:NM_080730:exon10:c.C1622T:p.P541L	.	416	1069	35	2	0	39	0.0179146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0133974944623	0.0035	0.00199681	0.0035	0.0012	0.0026	0	0.0022	0.0042	0.0045	0.0048	0.0030271	468	154602	rs139792267	0.0024	0.0024	0.0022	0.0026	0.0257	0.0024	0.0023	0.0223	0.0210	0.0011	0.0028	0.0213	0	0.0015	0.0257	0.0018	0.0047	0.0039	0.0024	0.0024	0.0025	0.0023	0.0029	0.0022	0.0021	0.0019	0.0018	0.0008	0	0.0024	0.0239	0	0.0022	0.0272	0.0022	0.0085	0.0029	0.013	0.53900	D	0.067	0.44501	T	0.001	0.07471	B	0.001	0.04355	B	0.887219	0.08713	N	0.946895	0.986481	0.40439	D	0	0.06538	N	-2.57	0.90332	D	-0.93	0.25118	N	0.226	0.27673	-1.0969	0.04487	T	0.047	0.19998	T	10	0.005678326	0.00126	T	0.013397	0.32774	T	0.138	0.37187	.	.	0.751694653358	0.74944	0.7574403315536291	0.75692	0.545570971901	0.51584	0.456590890884	0.32844	T	0.018523	0.14916	T	-0.278165	0.10863	T	-0.172349	0.57228	T	0.0236246190789405	0.01098	T	0.808019	0.47619	T	0.05590625	0.10929	0.056011453	0.09932	0.05590625	0.10928	0.056011453	0.09931	-4.361	0.29023	T	.	.	0.072	0.07841	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.094287	0.60998	24.3	0.99615930279789366	0.75112	0.32711	0.24652	N	ALL	0.621563	0.60621	D	0.034920992093561	0.43451	2.637636	0.0985941487877732	0.44478	2.72883	0.999999999989447	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.594344	0.31042	0	0.591603	0.36755	0	.	.	3.98	3.09	0.34677	4.472000	0.59921	6.748000	0.56502	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0885:0.0:0.9115:0.0	11.148	0.47667	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.027174	0.023392	0.000000	0.008621	0.021341	0.011364	0.02632	931.33	34	chr12	6540550	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=685;ExcessHet=0;FS=3.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.884;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr12	6563355	6563355	A	G	exonic	NOP2	.	nonsynonymous SNV	NOP2:NM_001033714:exon8:c.T836C:p.F279S,NOP2:NM_001258308:exon8:c.T848C:p.F283S,NOP2:NM_001258310:exon8:c.T836C:p.F279S,NOP2:NM_006170:exon8:c.T836C:p.F279S,NOP2:NM_001258309:exon9:c.T947C:p.F316S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0960774077691	0.0005	0.000399361	0.0003	0.0033	0.0003	0	0	0	0	0	0.0001617	25	154602	rs371271025	3.517e-05	3.625e-05	3.288e-05	3.749e-05	0.0012	2.719e-05	2.458e-05	0.0009	0.0008	0.0012	7.004e-05	0	0	0	0.0003	9.038e-07	5e-05	1.191e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0	0	0	0	0	0	0	0.005	0.72154	D	0.001	0.83351	D	0.963	0.55692	D	0.839	0.60107	P	0.000000	0.84330	D	0.095093	0.999994	0.58761	D	3.815	0.95518	H	2.15	0.53088	T	-7.47	0.94958	D	0.947	0.95491	-0.3834	0.72545	T	0.310	0.68039	T	10	0.05065933	0.04832	T	0.096077	0.76540	D	0.394	0.70924	.	.	0.569349616842	0.56601	0.8027050470538345	0.80224	0.621508943027	0.56437	0.662841379642	0.61816	T	0.163014	0.51229	T	-0.0677456	0.41686	T	0.122648	0.78409	D	0.530395269393921	0.33749	D	0.89671	0.68017	D	0.8128076	0.84739	0.72397983	0.83698	0.8128076	0.84741	0.72397983	0.83699	-14.342	0.94115	D	.	.	0.726	0.75692	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.774299	0.77316	26.7	0.99834611878915835	0.91628	0.95881	0.66555	D	AEFDBHCI	0.706014	0.66121	D	0.637106568582146	0.75538	6.323489	0.556727113597388	0.71866	5.720667	0.998102154837009	0.36433	0.722319	0.85440	0	0.67197	0.64623	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.32	4.14	0.47821	4.742000	0.61798	7.784000	0.68736	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.7198:0.0:0.0:0.2802	9.574	0.38607	427	0.81056	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	33	chr12	6563355	.	A	G	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=734;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.841;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1155	18	0	1	0
chr12	6578526	6578526	C	G	exonic	CHD4	.	nonsynonymous SNV	CHD4:NM_001297553:exon34:c.G4981C:p.E1661Q,CHD4:NM_001273:exon35:c.G5002C:p.E1668Q,CHD4:NM_001363606:exon35:c.G4969C:p.E1657Q	Sifrim-Hitz-Weiss syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038175	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0141837589628	.	0.000798722	0.0005	9.899e-05	8.693e-05	0	0	0	0	0.0034	0.0003946	61	154602	rs201047688	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	2.521e-05	0	0	9e-07	0.0002	0.0033	0.0001	0.0001	5.142e-05	0.0002	0.0039	8.168e-05	6.724e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.382	0.11120	T	0.219	0.25987	T	0.0	0.02946	B	0.001	0.04355	B	0.111597	0.19393	N	0.541939	0.723437	0.29900	N	1.67	0.42885	L	-2.71	0.90566	D	-1.0	0.26422	N	0.209	0.23253	-0.3659	0.73086	T	0.571	0.84481	D	10	0.0061585605	0.00139	T	0.014184	0.34122	T	0.183	0.45592	0.136	0.04008	0.58681671947	0.58357	0.2664334229836858	0.26556	0.0398787629884	0.04262	0.465456843376	0.34058	T	0.059243	0.63350	T	-0.334659	0.05767	T	-0.255281	0.49294	T	0.0575907398562265	0.06784	T	0.847115	0.59601	T	0.07177996	0.15916	0.056539614	0.10120	0.085492894	0.19832	0.06796307	0.14129	-6.444	0.50140	T	0.2271810084724772	0.30710	0.164	0.38977	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.221084	0.63852	24.6	0.99236485321950463	0.56405	0.94689	0.61993	D	AEFBCI	0.452206	0.50586	N	-0.0378795881618971	0.40145	2.379194	0.147338129590966	0.47001	2.937037	0.998874183194677	0.37868	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	4.009000	0.56822	7.554000	0.60334	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8797:0.0:0.1203	10.289	0.42764	377	0.83897	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1222.33	34	chr12	6578526	.	C	G	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.489;DP=704;ExcessHet=0;FS=4.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.099;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr12	6620294	6620294	T	C	exonic	LPAR5	.	nonsynonymous SNV	LPAR5:NM_001142961:exon2:c.A955G:p.T319A,LPAR5:NM_020400:exon2:c.A955G:p.T319A	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0042	0.0175719	0.0090	0.0173	0.0011	0.0208	0	0.0006	0.0064	0.0352	0.0065911	1019	154602	rs115447074	0.0031	0.0031	0.0023	0.0039	0.0312	0.0030	0.0030	0.0302	0.0298	0.0175	0.0008	0.0019	0.0151	0	0.0070	0.0002	0.0048	0.0312	0.0064	0.0065	0.0060	0.0069	0.0347	0.0061	0.0060	0.0304	0.0288	0.0159	0	0.0019	0.0023	0.0170	0	0.0034	0.0003	0.0057	0.0347	0.429	0.09572	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005433	0.32805	N	0.121317	1	0.08975	N	1.67	0.42885	L	1.25	0.36512	T	-0.48	0.15379	N	0.033	0.00882	-1.0438	0.16177	T	0.021	0.08917	T	10	0.0022586882	0.00033	T	.	.	.	0.030	0.07022	.	.	0.1749357433	0.17121	0.5690130985397663	0.56829	0.536398855635	0.50972	0.396587699652	0.24594	T	0.015667	0.13095	T	-0.692226	0.00041	T	-0.742044	0.03805	T	0.000698110342982242	0.00006	T	0.29917	0.05580	T	0.031352475	0.02959	0.039061654	0.03914	0.031352475	0.02958	0.039061654	0.03913	-2.288	0.04490	T	.	.	0.060	0.01126	B	.;.	.;.	0.713901	0.10826	7.508	0.43766780771023789	0.03318	0.10966	0.16316	N	AEFDBHCI	0.068639	0.13550	N	-1.10176461099149	0.06612	0.304864	-1.1077629270215	0.07551	0.3677291	0.999998840050572	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.84	0.782	0.17712	0.059000	0.14199	0.677000	0.20646	0.519000	0.23678	0.000000	0.06391	0.057000	0.21958	0.026000	0.12556	0.0:0.1799:0.2086:0.6115	4.976	0.13489	350	0.85473	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006079	0.000000	0.008152	0.005882	0.000000	0.000000	0.003086	0.015152	0.02632	804.33	33	chr12	6620294	.	T	C	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=685;ExcessHet=0;FS=7.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.94;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	18	0	1	0
chr12	6667903	6667903	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1196_1197insGCA:p.Q400_P401insQ,ZNF384:NM_133476:exon10:c.1361_1362insGCA:p.Q455_P456insQ,ZNF384:NM_001135734:exon11:c.1544_1545insGCA:p.Q516_P517insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0164	0.0019	0.0026	0.0041	0.0048	0.0050	0.0070	0.0001921	5	26028	rs764078071	0.0061	0.0059	0.0060	0.0061	0.0242	0.0060	0.0059	0.0227	0.0222	0.0242	0.0026	0.0021	0.0020	0.0058	0.0059	0.0058	0.0063	0.0079	0.0097	0.0098	0.0094	0.0100	0.0215	0.0093	0.0091	0.0203	0.0198	0.0215	0	0.0052	0.0023	0.0022	0.0062	0.0035	0.0053	0.0103	0.0086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	35273.8	64	chr12	6667903	.	T	TTGC	35273.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=1937;ExcessHet=0.0107;FS=3.092;InbreedingCoeff=0.4747;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=33.88;ReadPosRankSum=-0.4;SOR=0.59	GT:AD:DP:GQ:PL	0/0:0,0:55:77:2090,2104,2180	18	0	1	0
chr12	6778256	6778256	-	G	exonic	LAG3	.	frameshift insertion	LAG3:NM_002286:exon8:c.1445dupG:p.F483Ifs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1955.29	35	chr12	6778256	.	C	CG	1955.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=765;ExcessHet=0;FS=2.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.482;SOR=0.9	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1310	18	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P,CDCA3:NM_001297603:exon3:c.T130C:p.S44P,CDCA3:NM_001297604:exon3:c.T130C:p.S44P,CDCA3:NM_031299:exon3:c.T130C:p.S44P	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008560	0.000000	0.008152	0.002924	0.000000	0.017241	0.009146	0.022727	0.05263	1940.83	34	chr12	6850587	.	A	G	1940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=760;ExcessHet=0.119;FS=4.078;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.319;SOR=1.057	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1252	17	0	2	0
chr12	6937065	6937065	C	A	exonic	ATN1	.	nonsynonymous SNV	ATN1:NM_001007026:exon5:c.C1798A:p.P600T,ATN1:NM_001940:exon5:c.C1798A:p.P600T	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00553090059097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.18562	T	0.257	0.23231	T	0.024	0.19075	B	0.012	0.16012	B	0.358219	0.13710	U	0.543710	0.977157	0.39341	D	1.67	0.42885	L	1.01	0.41058	T	-1.69	0.40274	N	0.196	0.21580	-1.0040	0.28755	T	0.094	0.35738	T	10	0.0955832	0.17083	T	0.005531	0.14258	T	0.071	0.20720	0.435	0.48664	0.187035705434	0.18338	0.2550766023431746	0.25421	0.450256649311	0.44793	0.429285049438	0.29111	T	0.433641	0.78101	T	-0.236515	0.15795	T	-0.577514	0.14768	T	0.212882295250893	0.21103	T	0.736326	0.35288	T	0.07980328	0.18251	0.068195455	0.14210	0.07980328	0.18250	0.068195455	0.14209	-4.805	0.34650	T	.	.	0.068	0.02829	B	.;.	.;.	1.860972	0.23640	16.09	0.99510302434950149	0.68558	0.16128	0.19244	N	ALL	0.173120	0.30018	N	-0.474515769186467	0.22918	1.22709	-0.445470475393367	0.23677	1.292498	0.999999990160819	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.735409	0.98432	0	.	.	3.84	2.86	0.32427	0.260000	0.18192	1.712000	0.28202	0.547000	0.25779	0.000000	0.06391	0.999000	0.35428	0.072000	0.16771	0.1478:0.7079:0.1443:0.0	10.196	0.42232	774	0.48577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1813.33	37	chr12	6937065	.	C	A	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.371;DP=920;ExcessHet=0;FS=2.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.248;SOR=0.801	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr12	6960673	6960673	T	C	exonic	PTPN6	.	nonsynonymous SNV	PTPN6:NM_080549:exon15:c.T1684C:p.S562P	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00451738236384	0.0039	0.00119808	0.0026	0	0	0	0.0038	0.0060	0	0	0.0008085	125	154602	rs61753202	0.0032	0.0031	0.0034	0.0031	0.0037	0.0032	0.0031	0.0036	0.0036	0.0003	0.0005	0.0115	0	0.0007	0.0018	0.0037	0.0026	0.0001	0.0025	0.0025	0.0025	0.0026	0.0041	0.0023	0.0022	0.0037	0.0035	0.0006	0.0066	0.0009	0.0158	0	0.0006	0.0034	0.0041	0.0005	0.0004	0.056	0.38185	T	0.132	0.34477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	0.16	0.05217	N	0.092	0.07125	-0.9557	0.39970	T	0.013	0.04843	T	9	0.003281474	0.00056	T	0.004517	0.11125	T	0.014	0.01968	.	.	0.151262610727	0.14761	0.40991014041965795	0.40907	0.132070076647	0.14885	.	.	.	.	.	.	-0.718081	0.00028	T	-0.802745	0.01834	T	0.00257669018512048	0.00027	T	0.269473	0.04507	T	.	.	.	.	.	.	.	.	-3.584	0.17625	T	.	.	0.086	0.10787	B	.	.	0.514884	0.08836	5.616	0.95133415716562031	0.26247	0.00650	0.02830	N	AEFDGBHCI	0.036989	0.05017	N	-1.16373320992349	0.05557	0.2536646	-1.20818650675131	0.05778	0.2762427	0.999999754701873	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	3.83	-1.22	0.09005	0.192000	0.16902	0.053000	0.14027	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.5285:0.0:0.4715	7.171	0.24895	466	0.78352	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	663.33	38	chr12	6960673	.	T	C	663.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.498;SOR=0.565	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1473	18	0	1	0
chr12	6960710	6960710	G	A	exonic	PTPN6	.	nonsynonymous SNV	PTPN6:NM_080549:exon15:c.G1721A:p.R574Q	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00499201	0.0065	0.0005	0.0024	0	0	0	0	0.0173	0.001216	188	154602	rs781863006	0.0011	0.0011	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0.0002	0	0	0	0	0.0012	3.429e-05	0.0014	0.0173	0.0007	0.0007	0.0005	0.0008	0.0201	0.0006	0.0005	0.0169	0.0157	0	0	0	0	0	0	0	4.412e-05	0.0005	0.0201	0.144	0.25255	T	0.589	0.08245	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	2.6	0.13204	T	-0.18	0.09796	N	0.147	0.14905	-0.9280	0.44429	T	0.014	0.05465	T	9	0.0028401017	0.00045	T	.	.	.	0.010	0.01040	0.205	0.12076	0.20808081866	0.20439	0.1395622044925356	0.13879	0.120423767065	0.13557	.	.	.	.	.	.	-0.761099	0.00015	T	-0.851762	0.00938	T	0.00449807220540193	0.00048	T	0.352865	0.07937	T	.	.	.	.	.	.	.	.	-4.528	0.31253	T	.	.	0.100	0.16973	B	.	.	0.711370	0.10804	7.485	0.81483599477862245	0.13708	0.00615	0.02724	N	AEFDGBHCI	0.041538	0.06330	N	-1.22432418178089	0.04649	0.2102838	-1.26064201483347	0.04975	0.2359953	0.999999974347505	0.74766	0.608966	0.35542	0	0.52208	0.09955	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	3.74	-1.24	0.08948	-0.104000	0.10893	0.825000	0.21891	0.526000	0.24426	0.002000	0.15269	0.003000	0.18671	0.039000	0.14166	0.0:0.3111:0.3712:0.3177	6.307	0.20352	466	0.78352	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001870	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004630	0.02632	1816.33	38	chr12	6960710	.	G	A	1816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=772;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.42;SOR=0.92	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1473	18	0	1	0
chr12	6970261	6970261	G	A	exonic	PHB2	.	unknown	UNKNOWN	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004398	68	154602	rs377244216	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0002	6.296e-06	0.0004	0.0031	0.0001	0.0001	0.0001	0.0001	0.0039	8.656e-05	7.249e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1917.33	44	chr12	6970261	.	G	A	1917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=942;ExcessHet=0;FS=4.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-1.283;SOR=0.824	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr12	7067724	7067724	G	A	exonic	C1S	.	nonsynonymous SNV	C1S:NM_001346850:exon9:c.G647A:p.R216H,C1S:NM_001734:exon10:c.G1148A:p.R383H,C1S:NM_201442:exon10:c.G1148A:p.R383H	C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	725264	not_provided|C1S-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0089	0.00938498	0.0027	0.0281	0.0010	0	0	0.0003	0.0011	0.0002	0.0025614	396	154602	rs20573	0.0008	0.0008	0.0009	0.0007	0.0258	0.0008	0.0007	0.0244	0.0238	0.0258	0.0016	0	0.0002	0	0.0010	5.846e-05	0.0021	0.0003	0.0071	0.0071	0.0072	0.0070	0.0246	0.0068	0.0066	0.0234	0.0228	0.0246	0	0.0024	0	0.0006	0	0	0.0002	0.0062	0	0.505	0.07619	T	0.415	0.14326	T	0.008	0.14655	B	0.009	0.14300	B	0.789059	0.09411	N	0.885577	1	0.08975	N	0.785	0.19527	N	-0.18	0.65747	T	-0.31	0.15379	N	0.034	0.07398	-1.0522	0.13790	T	0.044	0.18906	T	10	0.0048104525	0.00102	T	.	.	.	0.047	0.12962	.	.	0.372124015043	0.36827	0.4397990139553735	0.43896	0.274756508465	0.29960	0.173047304153	0.00045	T	0.051189	0.28809	T	-0.580612	0.00191	T	-0.585835	0.14030	T	0.00444739362888546	0.00047	T	0.618638	0.29103	T	0.077581376	0.17616	0.084087126	0.19317	0.10019102	0.23654	0.056747936	0.10193	-6.718	0.51946	T	0.13436395635468984	0.14505	0.060	0.01059	B	.;.;.;.;.	.;.;.;.;.	-0.421382	0.02134	0.204	0.29781702858135617	0.01597	0.01963	0.05953	N	AEFDGBI	0.385960	0.46650	N	-1.26718793455993	0.04077	0.1833432	-1.28442325694574	0.04641	0.2193546	0.999866027983675	0.44398	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.67	-4.41	0.03339	-0.410000	0.07214	-2.835000	0.03313	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.701000	0.34172	0.5853:0.0887:0.326:0.0	11.123	0.47527	712	0.56465	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	395.33	36	chr12	7067724	.	G	A	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.17;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.31;SOR=0.724	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,646	18	0	1	0
chr12	7089623	7089623	C	G	exonic	C1R	.	nonsynonymous SNV	C1R:NM_001354346:exon4:c.G577C:p.G193R,C1R:NM_001733:exon4:c.G535C:p.G179R	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.890	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318448209	1.591e-06	1.59e-06	0	2.92e-06	1.433e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.433e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	1	0.81001	D	.	.	.	-4.83	0.98213	D	-7.3	0.95336	D	0.77	0.80180	1.100	0.99658	D	0.961	0.98759	D	9	0.98777866	0.99161	D	.	.	.	0.890	0.96836	0.888	0.97226	0.951856303439	0.95134	0.8264739489347458	0.82605	.	.	0.536666691303	0.43975	T	0.69893	0.94904	D	0.34344	0.86065	D	0.352405	0.90412	D	0.997045576572418	0.90642	D	0.982102	0.95374	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.66786	A	.;.;.;.;.;.	.;.;.;.;.;.	4.513555	0.70700	25.6	0.99911738089821978	0.98095	0.96224	0.68106	D	AEFDBCI	0.926540	0.90781	D	0.42281277829279	0.62679	4.487786	0.371547035143557	0.59815	4.16283	0.999999999138922	0.74766	0.643511	0.44296	0	0.670034	0.63936	0	0.688494	0.62686	0	0.616125	0.45549	0	.	.	5.55	4.66	0.57857	6.731000	0.74591	7.687000	0.65600	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.547000	0.30103	0.0:0.9281:0.0:0.0718	14.241	0.65503	625	0.65529	.;.;EGF-like, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3208.33	35	chr12	7089623	.	C	G	3208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.336;DP=1026;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.942;SOR=0.647	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	7091773	7091773	C	T	exonic	C1R	.	stopgain	C1R:NM_001354346:exon1:c.G44A:p.W15X	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	3203274	C1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0120	0	0	0.0026	0	0	0.0055	0.0269	0.0017529	271	154602	rs367785162	0.0032	0.0029	0.0015	0.0046	0.0277	0.0030	0.0030	0.0266	0.0261	0.0003	8.641e-05	0	3.115e-05	0	0.0005	9.464e-06	0.0016	0.0277	0.0011	0.0011	0.0005	0.0016	0.0335	0.0009	0.0009	0.0293	0.0277	0	0	6.538e-05	0	0	0	0	0	0.0005	0.0335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.687	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.788799	0.00009	T	-0.884882	0.00615	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.729985	0.01253	0.065	0.61694685726672127	0.06773	0.00797	0.03252	N	AEFDBCIJ	0.174399	0.30153	N	-1.63503674367357	0.01099	0.04773559	-1.8518245417621	0.00607	0.02697177	0.999999990106296	0.74766	0.403107	0.06075	0	0.541556	0.11502	0	0.467745	0.07146	0	0.562822	0.20929	0	.	.	3.92	-7.56	0.01180	-1.186000	0.03179	-6.457000	0.01393	-2.934000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1236:0.1908:0.0:0.6857	8.454	0.32052	624	0.65661	.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	734.33	34	chr12	7091773	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.39;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr12	7108350	7108350	G	T	exonic	C1RL	.	nonsynonymous SNV	C1RL:NM_001297640:exon2:c.C201A:p.S67R,C1RL:NM_001297642:exon2:c.C201A:p.S67R,C1RL:NM_001297643:exon2:c.C201A:p.S67R,C1RL:NM_016546:exon2:c.C201A:p.S67R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00391692826457	.	.	5.784e-05	0	0	0	0	0	0.0011	0.0004	5.17e-05	8	154602	rs534316475	1.779e-05	1.779e-05	1.497e-05	2.063e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0002	0	0	0	0	0	0	0	4.967e-05	0.0003	6.562e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.173	0.41637	T	0.209	0.70582	T	0.995	0.77913	D	0.924	0.84481	D	0.002872	0.35804	N	0.234793	1	0.18198	N	1.445	0.36358	L	2.25	0.17761	T	-2.9	0.60827	D	0.418	0.60241	-1.1320	0.01689	T	0.064	0.26491	T	10	0.14628944	0.27738	T	0.003917	0.09242	T	0.146	0.38789	0.621	0.75576	0.298056030225	0.29408	0.5268523053524182	0.52609	0.269640530284	0.29486	0.400819808245	0.25182	T	0.091094	0.38725	T	-0.356789	0.04315	T	-0.407548	0.32507	T	0.459288477897644	0.31139	T	0.707729	0.31835	T	0.24620199	0.47586	0.29731083	0.55764	0.24620199	0.47586	0.29731083	0.55763	-5.566	0.42481	T	.	.	0.253	0.67681	B	.;.;.;.	.;.;.;.	2.278539	0.29133	18.02	0.9923506278299814	0.56342	0.24855	0.22522	N	ALL	0.251991	0.37176	N	-0.0470053332560804	0.39737	2.348161	-0.227380292453927	0.30559	1.72167	0.999999999995623	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.25	2.22	0.27116	1.368000	0.33820	0.868000	0.22289	0.676000	0.76740	0.161000	0.23811	0.017000	0.20586	0.029000	0.12982	0.111:0.2017:0.6873:0.0	5.560	0.16421	646	0.63441	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	971.33	33	chr12	7108350	.	G	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.58;SOR=0.707	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1193	18	0	1	0
chr12	7130691	7130691	G	T	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon1:c.G43T:p.A15S	.	423	1033	61	5	0	71	0.0332241	.	.	.	3547150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0036	0.00658946	0.0098	0.0103	0.0129	0	0	0.0058	0.0121	0.0176	0.0033182	513	154602	rs145190321	0.0031	0.0031	0.0027	0.0036	0.0178	0.0030	0.0030	0.0148	0.0142	0.0076	0.0043	0.0093	0.0001	0.0002	0.0178	0.0019	0.0055	0.0152	0.0044	0.0044	0.0046	0.0042	0.0143	0.0041	0.0040	0.0116	0.0106	0.0080	0.0011	0.0049	0.0095	0.0002	0.0002	0.0204	0.0020	0.0057	0.0143	0.442	0.10148	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.548015	0.11466	N	0.788204	1	0.08975	N	-0.895	0.01383	N	2.12	0.19726	T	0.07	0.07736	N	0.139	0.13769	-1.0680	0.09858	T	0.021	0.08778	T	10	0.0030443072	0.00050	T	.	.	.	0.021	0.04004	.	.	0.281547015583	0.27767	0.35854401661910473	0.35768	0.288253582573	0.31233	0.356690347195	0.18903	T	0.008913	0.23664	T	-0.598821	0.00148	T	-0.620618	0.11137	T	0.00108617581757987	0.00010	T	0.331367	0.07351	T	0.055753954	0.10880	0.04894971	0.07378	0.055753954	0.10879	0.04894971	0.07378	-3.093	0.11216	T	.	.	0.066	0.03887	B	.;.	.;.	0.665902	0.10342	7.072	0.62287856607396397	0.06924	0.12591	0.17362	N	AEFDGBCI	0.044641	0.07208	N	-1.19660380079444	0.05051	0.2293829	-1.15269521724595	0.06719	0.3243835	0.999999929559777	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.77	2.93	0.33092	0.670000	0.24838	1.292000	0.25419	-0.941000	0.02090	0.027000	0.20232	0.033000	0.21346	0.022000	0.11911	0.0:0.7049:0.193:0.1021	6.560	0.21676	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013388	0.027174	0.010959	0.017647	0.000000	0.035088	0.006289	0.015267	0.02632	266.33	34	chr12	7130691	.	G	T	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.538;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1126	18	0	1	0
chr12	7190513	7190602	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_192del:p.E48_S66del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	1	1242	33	243	3	522	0.172827	.	.	.	1101393	not_provided|PEX5-related_disorder|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|.|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0.0004	0.0041	0.0005	0.0005	0.0014	0.0011	3.84e-05	1	26028	.	0.0006	0.0006	0.0005	0.0006	0.0065	0.0005	0.0005	0.0059	0.0056	0.0003	0.0007	7.67e-05	0.0065	0.0007	0.0004	0.0003	0.0010	0.0009	0.0018	0.0013	0.0019	0.0018	0.0130	0.0016	0.0015	0.0098	0.0087	0.0005	0	0.0034	0	0.0130	0.0008	0.0090	0.0017	0.0016	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr12	7306539	7306539	G	A	exonic	ACSM4	.	nonsynonymous SNV	ACSM4:NM_001080454:exon2:c.G208A:p.E70K	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00553647566486	.	0.000399361	0.0013	0	0	0	0	0	0.0027	0.0062	0.000401	62	154602	rs374650478	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	0	0	0.0002	9.078e-07	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0	0	0	0	0	0	0	0.0058	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.151484	0.17953	U	0.395490	0.619892	0.32696	D	-0.185	0.04235	N	1.12	0.38718	T	1.92	0.00446	N	0.235	0.26475	-0.9945	0.31432	T	0.029	0.12278	T	10	0.0059690475	0.00134	T	0.005536	0.14258	T	0.071	0.20720	.	.	0.151104730317	0.14643	0.601269460778345	0.60057	0.0829935287975	0.09363	0.458443790674	0.33097	T	0.005254	0.04698	T	-0.555805	0.00269	T	-0.569785	0.15470	T	0.0120176397091891	0.00189	T	0.525248	0.17252	T	0.06909028	0.15106	0.074232124	0.16217	0.06909028	0.15106	0.074232124	0.16217	-6.978	0.53873	T	.	.	0.078	0.06663	B	.	.	1.137665	0.15248	11.70	0.099796595188311771	0.00115	0.67371	0.33409	D	AEFGBI	0.187795	0.31509	N	-0.993388137029605	0.08745	0.4111764	-0.765210569381469	0.15349	0.8068178	3.13548131591045E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.13	3.31	0.37025	1.896000	0.39421	2.949000	0.35703	-0.134000	0.12905	0.997000	0.40164	1.000000	0.68203	0.035000	0.13729	0.1694:0.0:0.8306:0.0	9.959	0.40853	670	0.60992	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	667.33	33	chr12	7306539	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.057;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr12	7403834	7403834	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon6:c.G1139A:p.R380Q,CD163L1:NM_174941:exon6:c.G1109A:p.R370Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00276024104916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018713007	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	3.829e-05	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.49117	D	0.049	0.48336	D	0.369	0.34063	B	0.046	0.24676	B	.	.	.	.	0.994731	0.23454	N	3.245	0.89746	M	0.63	0.53088	T	-2.42	0.73684	N	0.31	0.35514	-0.8761	0.50067	T	0.157	0.48908	T	9	0.35790735	0.52496	T	0.00276	0.05723	T	0.137	0.36984	0.496	0.58520	0.581344535356	0.57806	0.8108406574809643	0.81039	0.342104402835	0.36142	0.357345104218	0.18998	T	0.121712	0.44487	T	-0.0658128	0.41995	T	-0.332312	0.41212	T	0.441490082498932	0.30484	T	0.784922	0.56163	T	0.05565821	0.10847	0.060473993	0.11521	0.05565821	0.10847	0.060473993	0.11521	-5.845	0.46305	T	.	.	0.178	0.48039	B	.;.;.	.;.;.	1.601657	0.20476	14.77	0.99700544022188564	0.80591	0.41621	0.26698	N	AEFBI	0.276509	0.39123	N	-0.572176222611046	0.19794	1.038719	-0.777454469223093	0.15048	0.789478	0.00242375897210103	0.09418	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	1.85	0.942	0.18648	1.416000	0.34366	4.055000	0.41540	-0.271000	0.06739	0.001000	0.13787	0.221000	0.23714	0.215000	0.22324	0.0:0.832:0.0:0.168	6.598	0.21879	871	0.31377	SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	39	chr12	7403834	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.599;DP=779;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.457;SOR=0.485	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	18	0	1	0
chr12	7794790	7794790	A	G	exonic	NANOG	.	nonsynonymous SNV	NANOG:NM_001297698:exon4:c.A565G:p.T189A,NANOG:NM_024865:exon4:c.A613G:p.T205A	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0790458724361	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482876293	2.142e-06	2.053e-06	2.828e-06	1.442e-06	1.306e-05	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.441e-05	1.306e-05	6.679e-06	6.581e-06	1.301e-05	0	2.456e-05	0	0	.	.	2.456e-05	0	0	0	0	0	0	0	0	0	0.144	0.25255	T	0.265	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.193071	0.03264	N	1.557090	1	0.08975	N	0.815	0.20815	L	-2.75	0.91249	D	-0.13	0.13226	N	0.043	0.05414	-0.6342	0.63392	T	0.489	0.80589	T	10	0.10453421	0.19276	T	0.079046	0.73145	D	0.265	0.57870	0.274	0.22528	0.747490851757	0.74521	0.1127232708145812	0.11200	0.827582985191	0.67484	0.248797103763	0.03642	T	0.351089	0.71871	T	-0.0874895	0.38489	T	-0.363449	0.37653	T	0.0702239989601328	0.08682	T	0.107789	0.01283	T	0.014670946	0.00103	0.015569734	0.00008	0.014670946	0.00103	0.015569734	0.00008	-3.988	0.23759	T	.	.	0.059	0.01197	B	.;.;.	.;.;.	-1.195999	0.00534	0.012	0.27684227439727088	0.01386	0.02029	0.06086	N	AEFBI	0.028098	0.02413	N	-1.83348481162499	0.00468	0.02014992	-1.89585160942058	0.00499	0.02210643	0.00556296378111344	0.10978	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	2.8	-2.5	0.06015	-3.233000	0.00605	-4.671000	0.02041	-1.934000	0.00496	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5731:0.0:0.2341:0.1929	3.154	0.06109	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1749.81	56	chr12	7794790	.	A	G	1749.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.697;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36;MQRankSum=0.551;QD=31.25;ReadPosRankSum=0.836;SOR=1.211	GT:AD:DP:GQ:PL	0/0:43,0:43:96:0,96,1440	18	1	0	0
chr12	7819542	7819542	-	ATAT	exonic	SLC2A14	.	frameshift insertion	SLC2A14:NM_001286236:exon8:c.752_753insATAT:p.M251Ifs*26,SLC2A14:NM_001286237:exon8:c.1124_1125insATAT:p.M375Ifs*26,SLC2A14:NM_001286234:exon9:c.1010_1011insATAT:p.M337Ifs*26,SLC2A14:NM_153449:exon10:c.1079_1080insATAT:p.M360Ifs*26,SLC2A14:NM_001286235:exon11:c.1010_1011insATAT:p.M337Ifs*26,SLC2A14:NM_001286233:exon14:c.1079_1080insATAT:p.M360Ifs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1632.29	39	chr12	7819542	.	C	CATAT	1632.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.632;DP=739;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.82;MQRankSum=-0.035;QD=20.15;ReadPosRankSum=1.01;SOR=0.97	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr12	8177348	8177348	C	A	exonic	ZNF705A	.	nonsynonymous SNV	ZNF705A:NM_001004328:exon5:c.C668A:p.T223K	.	441	1067	12	2	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.003442605786	.	0.000998403	0.0011	0.0002	0.0004	0	0	0.0014	0.0024	0.0017	0.0006916	18	26028	rs150478104	0.0010	0.0010	0.0009	0.0011	0.0142	0.0009	0.0009	0.0113	0.0103	0.0003	0.0014	0.0063	0	0	0.0142	0.0008	0.0018	0.0023	0.0012	0.0012	0.0011	0.0013	0.0041	0.0011	0.0010	0.0033	0.0030	0.0002	0	0.0041	0.0063	0	0	0.0068	0.0011	0.0019	0.0021	0.001	0.78490	D	0.004	0.74150	D	0.986	0.61523	D	0.849	0.60615	P	.	.	.	.	0.959791	0.26172	N	1.84	0.48285	L	1.85	0.24472	T	-5.52	0.85994	D	0.122	0.11769	-1.0293	0.20681	T	0.111	0.39841	T	8	0.014437795	0.00304	T	0.003443	0.07755	T	0.049	0.13647	.	.	0.442363741745	0.43858	0.04311538752531013	0.04256	1.58547644005	0.88456	0.592045068741	0.51783	T	0.143	0.47904	T	-0.481878	0.00721	T	-0.472225	0.25277	T	0.0769960724014129	0.09598	T	0.713629	0.32527	T	0.20417237	0.42518	0.27787933	0.53744	0.20417237	0.42518	0.27787933	0.53743	-7.898	0.60373	D	.	.	0.330	0.55699	B	.;.	.;.	-0.666574	0.01400	0.082	0.6651946755522925	0.08083	0.06043	0.12012	N	AEFI	0.095910	0.19371	N	-0.606489360491596	0.18748	0.9758661	-0.906060440889935	0.11950	0.6119693	4.09385800405276E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.35	0.427	0.15704	-0.153000	0.10130	-6.904000	0.01277	-3.591000	0.00073	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.8078:0.0:0.1922	5.957	0.18512	830	0.39242	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007320	0.012500	0.008174	0.016807	0.000000	0.008772	0.003268	0.000000	0.02632	3058.33	175	chr12	8177348	.	C	A	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.18;DP=1948;ExcessHet=0;FS=3.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=-6.631;QD=13.01;ReadPosRankSum=0.375;SOR=0.685	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr12	8222738	8222738	C	G	exonic	FAM90A1	.	nonsynonymous SNV	FAM90A1:NM_001319982:exon6:c.G479C:p.R160P,FAM90A1:NM_018088:exon7:c.G479C:p.R160P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00151528373394	.	.	9.046e-06	0	0	0	0	0	0	6.195e-05	6.5e-06	1	154602	rs756120013	1.378e-06	2.052e-06	0	2.768e-06	2.321e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.335	0.18286	T	0.727	0.42493	P	0.206	0.37138	B	.	.	.	.	1	0.08975	N	.	.	.	2.64	0.12780	T	0.25	0.04456	N	0.342	0.38335	-0.9776	0.35548	T	0.013	0.05321	T	8	0.09366679	0.16595	T	0.001515	0.02343	T	0.011	0.01250	0.228	0.15406	0.12205267543	0.11705	0.0705449608713958	0.06991	0.561836197851	0.52685	0.437595844269	0.30248	T	0.002294	0.01691	T	-0.448314	0.01155	T	-0.700221	0.05814	T	0.045852147585364	0.04757	T	0.505449	0.15971	T	0.10567851	0.24987	0.14616956	0.34638	0.10567851	0.24987	0.14616956	0.34637	-5.276	0.39705	T	.	.	0.135	0.30894	B	.;.	.;.	0.401367	0.07724	4.405	0.80978998053221107	0.13461	0.00195	0.01126	N	AEFBI	0.091759	0.18582	N	-1.08787100177388	0.06866	0.317286	-1.25446829653085	0.05065	0.2404724	1.76369088713252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.742	-0.482	0.11476	-0.937000	0.04051	-1.564000	0.05161	-0.760000	0.03515	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	664.33	33	chr12	8222738	.	C	G	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.239;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.07;MQRankSum=-0.994;QD=16.2;ReadPosRankSum=1.38;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	18	0	1	0
chr12	8456134	8456134	A	C	exonic	CLEC6A	.	nonsynonymous SNV	CLEC6A:NM_001007033:exon1:c.A23C:p.Q8P,CLEC6A:NM_001317999:exon1:c.A23C:p.Q8P	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0058	0.0119808	0.0089	0.0019	0.0117	0	0.0015	0.0097	0.0089	0.0159	0.0092819	1435	154602	rs118084065	0.0099	0.0099	0.0098	0.0101	0.0159	0.0098	0.0097	0.0152	0.0149	0.0018	0.0108	0.0315	5.041e-05	0.0009	0.0103	0.0098	0.0123	0.0159	0.0080	0.0080	0.0082	0.0077	0.0159	0.0076	0.0075	0.0131	0.0120	0.0022	0.1031	0.0108	0.0337	0	0.0009	0.0204	0.0093	0.0109	0.0159	0.007	0.59928	D	0.008	0.67890	D	0.94	0.52768	P	0.272	0.39956	B	0.319473	0.14295	N	0.520295	1	0.08975	N	2.07	0.56829	M	3.29	0.06445	T	-1.55	0.37566	N	0.306	0.34552	-0.9950	0.31299	T	0.005	0.01506	T	10	0.0031131506	0.00052	T	.	.	.	0.040	0.10527	.	.	0.453588565359	0.44983	0.2530612940756762	0.25220	0.225619827505	0.25111	0.264399886131	0.05426	T	0.10257	0.41042	T	-0.550518	0.00290	T	-0.549931	0.17333	T	0.00599623502293781	0.00066	T	0.39826	0.10085	T	0.1970939	0.41561	0.17639962	0.40171	0.1970939	0.41561	0.17639962	0.40170	-3.316	0.13945	T	.	.	0.061	0.01126	B	.	.	1.401166	0.18154	13.58	0.92700504507297832	0.22191	0.09450	0.15203	N	AEFDGBCI	0.063924	0.12382	N	-0.441514636209237	0.24028	1.29459	-0.667939832498965	0.17764	0.9460425	0.999422505522612	0.39630	0.497415	0.19182	0	0.475579	0.06741	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.1	0.64	0.16924	1.315000	0.33214	1.090000	0.23972	0.567000	0.28720	0.010000	0.18352	0.000000	0.08366	0.021000	0.11733	0.6021:0.2567:0.1412:0.0	3.054	0.05807	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.02632	518.33	34	chr12	8456134	.	A	C	518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=695;ExcessHet=0;FS=5.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=-0.216;SOR=1.029	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	18	0	1	0
chr12	8519028	8519028	T	A	exonic	CLEC4D	.	stopgain	CLEC4D:NM_080387:exon4:c.T252A:p.C84X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162997976	1.163e-05	1.163e-05	1.498e-05	8.252e-06	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.312e-05	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.848	0.84401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.041256	0.96069	35	0.98896511490065442	0.48109	0.36876	0.25634	N	AEFGBI	0.137627	0.25868	N	0.107798794739267	0.46826	2.917139	-0.175831761658907	0.32428	1.844796	0.984197994286505	0.30679	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.5	-0.588	0.11101	-0.312000	0.08153	-0.124000	0.11690	0.507000	0.23093	0.600000	0.27747	0.874000	0.27626	0.862000	0.40904	0.0:0.3934:0.0:0.6066	7.574	0.27091	964	0.07719	.;C-type lectin-like|CD209-like, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1631.33	33	chr12	8519028	.	T	A	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=761;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.838;SOR=0.988	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	8851798	8851798	A	C	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon8:c.A776C:p.E259A,A2ML1:NM_144670:exon19:c.A2249C:p.E750A	.	432	1072	18	0	0	18	0.00832562	.	.	.	504429	not_specified|not_provided|A2ML1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0046694554073	0.0006	0.000599042	0.0010	0.0001	0.0003	0	0	0.0011	0.0022	0.0026	0.0008797	136	154602	rs200618482	0.0008	0.0008	0.0007	0.0008	0.0087	0.0007	0.0007	0.0068	0.0061	0.0003	0.0005	0.0060	0	0	0.0087	0.0005	0.0012	0.0026	0.0009	0.0009	0.0008	0.0010	0.0019	0.0007	0.0007	0.0010	0.0007	0.0001	0.0263	0.0013	0.0063	0	0	0.0068	0.0007	0.0014	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.007	0.12992	B	0.009791	0.30200	N	0.151347	0.998895	0.24972	N	-0.84	0.01504	N	1.91	0.23283	T	1.05	0.01736	N	0.215	0.24010	-0.9700	0.37200	T	0.017	0.07045	T	10	0.0054761767	0.00121	T	0.004669	0.11597	T	0.101	0.28911	.	.	0.0297737177859	0.01360	0.465133654912694	0.46432	0.119823001856	0.13497	0.362503170967	0.19750	T	7.27E-4	0.00333	T	-0.600796	0.00144	T	-0.640393	0.09641	T	0.00208754520510531	0.00021	T	0.675032	0.28342	T	0.042383425	0.06417	0.026234621	0.00703	0.037103925	0.04691	0.029903045	0.01381	-3.586	0.20730	T	.	.	0.096	0.20857	B	.;.;.	.;.;.	0.565489	0.09340	6.121	0.11556447989687775	0.00177	0.16776	0.19544	N	AEFBI	0.084346	0.17093	N	-1.07134643583474	0.07175	0.3325352	-0.93396495373246	0.11296	0.574607	0.0203494592033601	0.13249	0.744818	0.98587	0	0.563428	0.19063	0	0.732433	0.93434	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	-0.686000	0.05263	1.432000	0.26455	0.743000	0.86499	0.000000	0.06391	0.007000	0.19602	0.035000	0.13729	0.7954:0.2046:0.0:0.0	8.106	0.30048	724	0.55085	Alpha-2-macroglobulin|Alpha-2-macroglobulin;Alpha-2-macroglobulin|Alpha-2-macroglobulin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.008621	0.003049	0.011364	0.02632	2181.33	36	chr12	8851798	.	A	C	2181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=780;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=2.01;SOR=0.911	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr12	8932977	8932977	C	T	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1520T:p.P507L	.	660	859	3	0	0	3	0.00174317	.	.	.	2331842	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0212142432696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010585625	0.0002	0.0004	0.0001	0.0002	0.0017	0.0002	0.0001	0.0006	0.0003	0	0.0003	0.0005	6.288e-05	5.094e-05	0.0017	0.0002	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0	0	0.0009	0.0012	0	0.0002	0	0.0003	0.0006	0.0003	0.23	0.21066	T	0.084	0.41239	T	0.814	0.45487	P	0.052	0.25551	B	0.000800	0.41772	D	0.166790	1	0.81001	D	1.87	0.49600	L	0.32	0.58468	T	-2.24	0.52451	N	0.382	0.47580	-0.9969	0.30783	T	0.094	0.35604	T	10	0.20119074	0.36193	T	0.021214	0.43954	T	0.163	0.42028	0.282	0.23801	0.51829842692	0.51472	0.3652976624247382	0.36443	0.766525556682	0.64538	0.637933731079	0.58270	T	0.214385	0.57596	T	0.0903785	0.63232	D	-0.107954	0.62773	T	0.0718853268446148	0.08913	T	0.940306	0.80559	D	0.068064235	0.14796	0.055283997	0.09668	0.068064235	0.14796	0.055283997	0.09668	-6.081	0.46952	T	.	.	0.081	0.19518	B	.;.;.	.;.;.	4.251837	0.64550	24.7	0.87225210342667991	0.17076	0.96424	0.69071	D	AEFGI	0.688331	0.64937	D	0.0295030580483273	0.43201	2.617659	0.11903391977487	0.45524	2.813947	0.826030761764386	0.24608	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	4.750000	0.61857	5.870000	0.50524	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.598000	0.31338	0.0:0.9177:0.0:0.0823	12.332	0.54371	599	0.68140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006957	0.000000	0.005837	0.016484	0.083333	0.000000	0.006173	0.006173	0.02632	70.33	17	chr12	8932977	.	C	T	70.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=473;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.85;MQRankSum=-1.474;QD=2.81;ReadPosRankSum=0.68;SOR=2.179	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	18	0	1	0
chr12	9079271	9079271	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon24:c.G2642A:p.R881Q,A2M:NM_000014:exon25:c.G3092A:p.R1031Q,A2M:NM_001347424:exon25:c.G2792A:p.R931Q,A2M:NM_001347423:exon26:c.G3092A:p.R1031Q	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	729752	not_provided|A2M-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.00770035411579	0.0005	0.000199681	0.0006	0.0002	0.0005	0.0002	0	0.0009	0	0.0005	0.0005757	89	154602	rs202210880	0.0005	0.0005	0.0005	0.0005	0.0054	0.0005	0.0005	0.0039	0.0034	5.979e-05	0.0017	0.0043	5.039e-05	5.617e-05	0.0054	0.0003	0.0010	0.0009	0.0010	0.0010	0.0009	0.0011	0.0055	0.0009	0.0008	0.0045	0.0042	9.638e-05	0	0.0055	0.0055	0	0	0.0068	0.0005	0.0009	0.0010	0.693	0.04264	T	0.298	0.20486	T	0.027	0.19556	B	0.023	0.19966	B	0.000111	0.00454	N	4.004670	1	0.08975	N	0.28	0.10031	N	1.19	0.37578	T	0.34	0.03824	N	0.144	0.14480	-1.0497	0.14481	T	0.040	0.17404	T	10	0.026189327	0.00791	T	0.008	0.20431	T	0.108	0.30607	.	.	0.511848488485	0.50826	0.06324421940860403	0.06263	0.248225803681	0.27384	0.238967508078	0.02698	T	0.056149	0.30207	T	-0.670013	0.00055	T	-0.748434	0.03547	T	0.00636074948175264	0.00071	T	0.357964	0.08163	T	0.0548956	0.10595	0.033510484	0.02258	0.0548956	0.10595	0.033510484	0.02257	-5.47	0.41587	T	.	.	0.072	0.04080	B	.	.	-0.304026	0.02599	0.322	0.67998873628121814	0.08524	0.02505	0.06995	N	AEFBI	0.305958	0.41324	N	-1.52014269640998	0.01717	0.07516623	-1.5440935339835	0.02017	0.09216362	0.609135430644223	0.21790	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.92	-4.46	0.03288	-0.735000	0.04992	-2.146000	0.04145	-2.020000	0.00436	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.3367:0.2791:0.3843	5.399	0.15583	536	0.73233	Alpha-macroglobulin complement component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003027	0.000000	0.000000	0.000000	0.000000	0.000000	0.012346	0.000000	0.02632	1439.33	33	chr12	9079271	.	C	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.311;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr12	9080114	9080114	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon22:c.G2384A:p.R795Q,A2M:NM_000014:exon23:c.G2834A:p.R945Q,A2M:NM_001347424:exon23:c.G2534A:p.R845Q,A2M:NM_001347423:exon24:c.G2834A:p.R945Q	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0508808568681	8.4e-05	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs377622666	1.114e-05	1.437e-05	9.663e-06	1.265e-05	2.401e-05	6.6e-06	5.34e-06	6.6e-06	5.09e-06	0	2.401e-05	0	0	0	0	1.183e-05	1.682e-05	1.223e-05	3.288e-05	3.284e-05	3.857e-05	2.692e-05	7.247e-05	1.262e-05	7.98e-06	1.922e-05	1.033e-05	7.247e-05	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.962	0.70672	D	0.000012	0.62929	D	0.000000	0.620258	0.30786	N	3.715	0.94732	H	1.4	0.33630	T	-3.61	0.69477	D	0.436	0.47487	-0.0262	0.81711	T	0.354	0.71735	T	10	0.6405486	0.69032	D	0.050881	0.64430	D	0.253	0.56294	.	.	0.850733277146	0.84930	0.4689189817818303	0.46810	0.781368027646	0.65310	0.302126467228	0.10718	T	0.47837	0.80822	T	-0.0366182	0.46451	T	-0.290376	0.45734	T	0.996048152446747	0.88560	D	0.906209	0.66975	D	0.6634026	0.76081	0.40789735	0.65122	0.6634026	0.76082	0.40789735	0.65122	-7.809	0.59761	D	.	.	0.102	0.17995	B	.	.	4.068595	0.60437	24.2	0.99935782011893781	0.99579	0.96657	0.70249	D	AEFBI	0.699679	0.65695	D	0.719872131029138	0.80935	7.406	0.584939735069769	0.73861	6.040016	0.999990866352636	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.66	5.66	0.87293	2.827000	0.47813	1.033000	0.23495	0.549000	0.26987	0.999000	0.42656	0.175000	0.23375	0.107000	0.18608	0.0:1.0:0.0:0.0	19.335	0.94297	532	0.73501	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	563.33	20	chr12	9080114	.	C	T	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.454;SOR=0.936	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,871	18	0	1	0
chr12	9104376	9104376	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon10:c.G679A:p.V227I,A2M:NM_000014:exon11:c.G1129A:p.V377I,A2M:NM_001347424:exon11:c.G829A:p.V277I,A2M:NM_001347423:exon12:c.G1129A:p.V377I	Alpha-2-macroglobulin deficiency, Autosomal dominant	1	1514	7	0	0	7	0.00230643	.	.	.	3208345	A2M-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00610910811833	0.0003	.	0.0008	0	0.0015	0	0	0.0010	0	0.0007	0.0004075	63	154602	rs200364039	0.0003	0.0003	0.0003	0.0004	0.0052	0.0003	0.0003	0.0038	0.0033	0.0002	0.0004	0.0060	0.0003	0	0.0052	0.0001	0.0008	0.0006	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	8.882e-05	5.995e-05	9.654e-05	0	0.0003	0.0063	0.0002	0	0.0032	0.0001	0.0010	0.0004	0.193	0.20912	T	0.195	0.28032	T	0.051	0.22415	B	0.006	0.12133	B	0.860785	0.07115	N	1.067870	1	0.08975	N	1.19	0.30124	L	1.64	0.27822	T	-0.75	0.21003	N	0.06	0.03175	-1.0036	0.28874	T	0.068	0.27947	T	10	0.00984329	0.00221	T	0.006109	0.15993	T	0.045	0.12272	.	.	0.412849826617	0.40899	0.2124319914020271	0.21159	0.169457466706	0.19097	0.255848973989	0.04408	T	0.118097	0.43866	T	-0.639633	0.00084	T	-0.794654	0.02039	T	0.00794266102295663	0.00094	T	0.621638	0.23898	T	0.060083512	0.12286	0.07024254	0.14899	0.060083512	0.12285	0.07024254	0.14899	-4.316	0.28400	T	.	.	0.074	0.05274	B	.	.	0.292536	0.06685	3.191	0.94141744831731855	0.24332	0.06874	0.12899	N	AEFBCI	0.220291	0.34506	N	-0.845867598699663	0.12151	0.5905871	-0.882730217418525	0.12503	0.6435131	0.107744503476757	0.16564	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.87	0.749	0.17530	-0.591000	0.05848	-1.520000	0.05255	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.242000	0.23054	0.0:0.5855:0.0:0.4145	8.160	0.30356	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004550	0.005051	0.002717	0.011765	0.000000	0.017241	0.000000	0.003788	0.02632	1324.33	41	chr12	9104376	.	C	T	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=745;ExcessHet=0;FS=1.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-2.152;SOR=0.483	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1350	18	0	1	0
chr12	9154819	9154819	G	A	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon29:c.C3571T:p.R1191C	.	1	1511	10	0	0	10	0.00329815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00357266979921	0.0022	0.00179712	0.0029	0.0007	0.0032	0	0.0011	0.0038	0.0045	0.0021	0.002749	425	154602	rs145625112	0.0034	0.0034	0.0033	0.0034	0.0038	0.0033	0.0033	0.0037	0.0036	0.0005	0.0030	0.0067	0	0.0008	0.0012	0.0038	0.0033	0.0021	0.0026	0.0026	0.0028	0.0024	0.0040	0.0024	0.0023	0.0036	0.0034	0.0006	0	0.0032	0.0075	0	0.0004	0	0.0040	0.0038	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.012174	0.29266	U	0.222293	1	0.08975	N	4.005	0.96783	H	1.31	0.35405	T	-7.61	0.95366	D	0.542	0.56919	-0.8189	0.54003	T	0.218	0.58111	T	10	0.01669702	0.00353	T	0.003573	0.08154	T	0.166	0.42578	.	.	0.162503812791	0.15892	0.30640066940447686	0.30553	0.533759741714	0.50804	0.342216551304	0.16769	T	0.353768	0.72101	T	-0.331361	0.06009	T	-0.24991	0.49825	T	0.155111200827197	0.17503	T	0.941906	0.78301	D	0.66970235	0.76417	0.45429766	0.68268	0.66970235	0.76418	0.45429766	0.68269	-7.479	0.57463	T	.	.	0.307	0.53541	B	.	.	1.741367	0.22157	15.50	0.9823708541078443	0.39449	0.10431	0.15940	N	AEFBI	0.313559	0.41868	N	-0.649306905720522	0.17480	0.8998794	-1.01634618642579	0.09426	0.4688754	0.00166513199779651	0.08760	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.03	-3.69	0.04162	0.450000	0.21475	-4.384000	0.02184	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2039:0.0834:0.3408:0.3719	2.337	0.03989	631	0.64944	Alpha-macroglobulin complement component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1224.33	42	chr12	9154819	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.257;DP=793;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-2.182;SOR=0.428	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr12	9192520	9192520	G	A	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon12:c.C1474T:p.H492Y	.	.	.	.	.	.	.	.	.	.	.	2681635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00346348536966	.	.	2.485e-05	0	0	0	0	4.522e-05	0	0	1.94e-05	3	154602	rs763757326	3.629e-05	3.694e-05	3.269e-05	3.993e-05	0.0002	2.831e-05	2.567e-05	0.0002	0.0001	0	2.238e-05	0.0002	0	0	0	2.071e-05	6.63e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.005	0.11217	B	0.062444	0.22097	N	0.374572	0.999535	0.21028	N	-1.16	0.00885	N	0.15	0.60734	T	2.14	0.00347	N	0.114	0.10198	-0.9777	0.35526	T	0.039	0.16849	T	10	0.08898318	0.15372	T	0.003463	0.07817	T	0.105	0.29889	0.73	0.86373	0.199424873507	0.19547	0.3565088229778413	0.35564	0.0956589233798	0.10807	0.367318868637	0.20446	T	0.014106	0.12071	T	-0.399701	0.02326	T	-0.608319	0.12122	T	0.0177829704202765	0.00507	T	0.440256	0.12156	T	0.029730212	0.02516	0.037632305	0.03456	0.029730212	0.02516	0.037632305	0.03456	-0.121	0.00394	T	.	.	0.061	0.01026	B	.	.	0.744280	0.11139	7.780	0.21645451127296886	0.00834	0.00912	0.03561	N	AEFGI	0.026956	0.02118	N	-1.03282793722681	0.07929	0.3700195	-0.86977904095267	0.12812	0.66127	3.59103613840038E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.23	0.739	0.17473	1.587000	0.36232	3.425000	0.38278	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.227000	0.22653	0.6914:0.0:0.3086:0.0	5.121	0.14193	684	0.59539	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	946.33	34	chr12	9192520	.	G	A	946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.03;ReadPosRankSum=0.184;SOR=0.602	GT:AD:DP:GQ:PL	0/1:14,31:45:99:960,0,386	18	0	1	0
chr12	9694852	9694852	C	T	exonic	CLEC2D	.	nonsynonymous SNV	CLEC2D:NM_001197317:exon4:c.C443T:p.S148F,CLEC2D:NM_013269:exon5:c.C554T:p.S185F	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00198225310025	0.0018	0.000798722	0.0013	0	0.0007	0	0.0002	0.0019	0.0011	0.0012	0.0011902	184	154602	rs138893047	0.0015	0.0015	0.0015	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0005	0.0006	0	0	0.0012	0.0014	0.0017	0.0015	0.0011	0.0009	0.0009	0.0011	0.0007	0.0017	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0004	0	0	0.0006	0	0.0017	0.0009	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.97	0.85306	M	2.22	0.19726	T	-4.62	0.79399	D	0.37	0.54496	-0.9720	0.36776	T	0.131	0.44268	T	8	0.018050194	0.00389	T	0.001982	0.03562	T	0.107	0.30369	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.111177	0.42646	T	-0.424577	0.01600	T	-0.389915	0.34562	T	0.108178193634153	0.13234	T	0.793521	0.46129	T	0.48806635	0.66387	0.54046744	0.73441	0.48806635	0.66388	0.54046744	0.73442	-9.672	0.71925	D	.	.	0.718	0.75067	P	.;.	.;.	2.242299	0.28638	17.86	0.9827880711411956	0.39833	0.03222	0.08230	N	AEFDGBCI	0.041298	0.06261	N	-0.604787235897621	0.18799	0.9789416	-0.939106395409881	0.11177	0.5678066	0.273828976770024	0.18919	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.74	-3.52	0.04383	-1.107000	0.03427	-6.798000	0.01303	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.1087:0.3693:0.5221:0.0	9.892	0.40467	886	0.28090	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	817.33	35	chr12	9694852	.	C	T	817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.664;DP=711;ExcessHet=0;FS=4.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.175;SOR=0.774	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1095	18	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M,KLRF1:NM_001291823:exon2:c.G139A:p.V47M,KLRF1:NM_001366534:exon2:c.G139A:p.V47M,KLRF1:NM_016523:exon2:c.G139A:p.V47M	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024194	0.010101	0.017663	0.020468	0.000000	0.025862	0.033742	0.034091	0.07895	2308.79	33	chr12	9832369	.	G	A	2308.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.118;DP=759;ExcessHet=0.3672;FS=1.085;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.652;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	16	0	3	0
chr12	10073351	10073351	G	A	exonic	CLEC1A	.	nonsynonymous SNV	CLEC1A:NM_001297749:exon3:c.C328T:p.R110C,CLEC1A:NM_001297748:exon4:c.C505T:p.R169C,CLEC1A:NM_001297751:exon5:c.C340T:p.R114C,CLEC1A:NM_016511:exon5:c.C604T:p.R202C,CLEC1A:NM_001297750:exon6:c.C340T:p.R114C	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0210821801102	.	.	1.655e-05	0	8.728e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs774165401	1.574e-05	1.573e-05	1.77e-05	1.375e-05	8.951e-05	1.048e-05	8.75e-06	2.986e-05	1.805e-05	2.988e-05	8.951e-05	0	2.52e-05	0	0	1.259e-05	3.312e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.057	0.61437	T	0.007	0.92824	D	0.977	0.90584	D	0.874	0.79672	P	0.000700	0.42383	D	0.107857	0.999759	0.49512	D	3.055	0.86842	M	2.1	0.19990	T	-6.0	0.89534	D	0.868	0.86511	-0.9567	0.39789	T	0.148	0.47380	T	10	0.873496	0.86627	D	0.021082	0.43792	T	0.281	0.59861	0.636	0.77251	0.491996647052	0.48833	0.5906447496430066	0.58994	0.255766087705	0.28164	0.563328504562	0.47737	T	0.045954	0.27278	T	0.0331593	0.56144	T	0.00749759	0.70820	D	0.955871939659119	0.64616	D	0.913009	0.68959	D	0.19270602	0.40950	0.22091553	0.46883	0.19270602	0.40950	0.22091553	0.46883	-9.683	0.71992	D	.	.	0.744	0.81728	P	.;.;.	.;.;.	4.812133	0.78289	26.9	0.99922132192087865	0.98852	0.89458	0.49935	D	AEFGBI	0.665698	0.63442	D	0.60448783708044	0.73457	5.969347	0.52836799420662	0.69908	5.427773	0.999658580113456	0.41424	0.562547	0.31514	0	0.59043	0.45803	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	4.697000	0.61467	9.685000	0.81256	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	15.026	0.71331	923	0.18507	C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1009.33	33	chr12	10073351	.	G	A	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.827;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	486.94	33	chr12	10407787	.	G	A	486.94	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.302;DP=1788;ExcessHet=0.7564;FS=121.428;InbreedingCoeff=-0.1345;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.177;SOR=10.853	GT:AD:DP:GQ:PL	0/1:121,47:168:99:139,0,1915	14	0	4	1
chr12	10433940	10433940	G	A	exonic	KLRC2	.	nonsynonymous SNV	KLRC2:NM_002260:exon4:c.C334T:p.R112C	.	496	1025	1	0	0	1	0.000487567	.	.	.	2778510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00115915523723	0.0002	0.000199681	4.384e-05	0.0001	0	0.0001	0	4.738e-05	0	0	0.0001153	3	26028	rs373440622	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.252e-05	4.635e-05	0	0	0	0	0.0002	8.676e-05	1.199e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.736e-05	7.196e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0003	0	0	0.216	0.19782	T	0.222	0.72224	T	.	.	.	.	.	.	0.087030	0.02415	N	1.882220	1	0.08975	N	.	.	.	3.53	0.17271	T	0.74	0.02038	N	0.205	0.23758	-1.0215	0.23227	T	0.017	0.06902	T	9	0.040109694	0.02824	T	0.001159	0.01459	T	0.011	0.01250	.	.	0.124217242631	0.12060	0.22205922519808463	0.22120	0.42459538528	0.42886	.	.	.	.	.	.	-0.60291	0.00140	T	-0.839387	0.01108	T	0.0157935500101135	0.00368	T	0.466753	0.13720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.32517	B	.;.;.;.	.;.;.;.	0.381771	0.07536	4.186	0.38001407287067851	0.02537	0.00085	0.00571	N	AEFBI	0.017922	0.00505	N	-1.52105792783596	0.01711	0.07490815	-1.57660220412722	0.01799	0.08190094	1.04486277970265E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.98	-3.11	0.04975	-1.167000	0.03236	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5319:0.2044:0.2637:0.0	3.415	0.06945	872	0.31118	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	459.05	33	chr12	10433940	.	G	A	459.05	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.195;DP=1912;ExcessHet=0.7564;FS=143.191;InbreedingCoeff=-0.1382;MLEAC=3;MLEAF=0.088;MQ=54.1;MQRankSum=-0.3;QD=0.54;ReadPosRankSum=0.701;SOR=10.787	GT:AD:DP:GQ:PL	0/1:212,67:279:80:80,0,3542	13	0	4	2
chr12	10449386	10449386	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_007328:exon4:c.C286T:p.R96C,KLRC1:NM_002259:exon5:c.C340T:p.R114C,KLRC1:NM_213657:exon5:c.C286T:p.R96C,KLRC1:NM_001304448:exon6:c.C340T:p.R114C,KLRC1:NM_213658:exon6:c.C340T:p.R114C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00155260095507	7.7e-05	.	1.65e-05	0	8.637e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs376062790	9.587e-06	9.577e-06	9.538e-06	9.636e-06	0.0001	5.56e-06	4.35e-06	5.857e-05	3.763e-05	0.0001	6.743e-05	0	2.522e-05	0	0	4.499e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	4.83e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.217	0.25457	T	0.213	0.31427	T	0.0	0.02946	B	0.001	0.04355	B	0.080989	0.02354	N	1.909130	1	0.08975	N	-1.355	0.00654	N	3.53	0.04852	T	0.6	0.08971	N	0.119	0.13198	-0.9498	0.41006	T	0.009	0.03271	T	10	0.03999743	0.06302	T	0.001553	0.02445	T	0.027	0.05988	.	.	0.319114376414	0.31517	0.24495739834091534	0.24409	0.0451516136419	0.04887	0.255999237299	0.04425	T	0.069055	0.33613	T	-0.499642	0.00574	T	-0.872612	0.00718	T	0.0415094815167737	0.03965	T	0.188781	0.07446	T	0.21267043	0.43626	0.07341309	0.15950	0.21267043	0.43626	0.07341309	0.15950	0.887	0.19880	T	.	.	0.086	0.26576	B	.;.;.;.;.	.;.;.;.;.	0.583094	0.09517	6.293	0.47962006325882134	0.03964	0.00052	0.00397	N	AEFGI	0.024263	0.01474	N	-1.58834710164732	0.01323	0.0576488	-1.56553878378651	0.01871	0.0852886	8.0433383802193E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	-1.09	0.09397	-0.085000	0.11215	-5.319000	0.01763	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6854:0.0:0.3146:0.0	7.960	0.29225	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	487.83	37	chr12	10449386	.	G	A	487.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.074;DP=1375;ExcessHet=0.119;FS=161.765;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=58.78;MQRankSum=1.91;QD=0.85;ReadPosRankSum=1.9;SOR=10.2	GT:AD:DP:GQ:PL	0/1:204,71:275:96:96,0,3343	17	0	2	0
chr12	10506083	10506083	A	G	exonic	EIF2S3B	.	nonsynonymous SNV	EIF2S3B:NM_001357731:exon1:c.A181G:p.I61V,EIF2S3B:NM_001357734:exon1:c.A181G:p.I61V	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00483175917908	.	.	8.239e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs745751402	9.672e-06	9.596e-06	8.255e-06	1.11e-05	4.473e-05	5.61e-06	4.39e-06	7.41e-06	2.77e-06	3.014e-05	4.473e-05	0	0	0	0	7.28e-06	3.341e-05	1.163e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.07	0.35349	T	0.056	0.46632	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	-0.4	0.69287	T	-0.79	0.21860	N	0.366	0.40765	-0.6609	0.62236	T	0.237	0.60487	T	6	0.30067882	0.47614	T	0.004832	0.12098	T	0.189	0.46613	.	.	0.583835501724	0.58056	0.539804775756193	0.53905	0.106002587764	0.11987	.	.	.	0.031082	0.21878	T	-0.145619	0.28998	T	-0.364083	0.37580	T	0.915034413337708	0.57191	D	0.877212	0.59013	D	0.08581286	0.19920	0.07331865	0.15918	0.08581286	0.19920	0.07331865	0.15917	-7.701	0.59015	D	.	.	0.129	0.27553	B	.;.	.;.	1.878866	0.23864	16.18	0.96185959154082301	0.28975	0.60759	0.31288	D	AEGBI	0.214496	0.33996	N	-0.0662621324706456	0.38879	2.283964	-0.134599110310284	0.34007	1.951364	1.75781974594821E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.28	-0.558	0.11206	4.466000	0.59882	6.968000	0.57081	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.71:0.0:0.29:0.0	5.648	0.16878	934	0.15400	.;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2267.33	34	chr12	10506083	.	A	G	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=1367;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.63;SOR=0.778	GT:AD:DP:GQ:PL	0/1:97,86:183:99:2281,0,2583	18	0	1	0
chr12	10723070	10723072	GGT	-	exonic	YBX3	.	nonframeshift deletion	YBX3:NM_001145426:exon1:c.40_42del:p.T14del,YBX3:NM_003651:exon1:c.40_42del:p.T14del	.	450	1037	7	1	27	36	0.00432069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0541	0.00379393	0	.	.	.	.	.	.	.	0.0004226	11	26028	rs758440804	0.0004	0.0043	0.0004	0.0005	0.0022	0.0004	0.0004	0.0014	0.0011	0.0006	0.0022	0.0015	0.0014	0.0011	0.0014	0.0004	0.0006	0.0006	8.626e-05	0.0002	7.78e-05	9.513e-05	0.0004	5.004e-05	3.999e-05	0.0001	8.33e-05	0.0001	0	0.0003	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	43.33	12	chr12	10723069	.	GGGT	G	43.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.689;DP=270;ExcessHet=0;FS=0;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	18	0	1	0
chr12	10809772	10809772	A	G	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.T304C:p.C102R	.	425	1096	1	0	0	1	0.000455996	.	.	.	2440907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.00310325746879	.	.	0.0002	0	0	0	0	6.007e-05	0	0.0013	0.0001682	26	154602	rs766840521	0.0001	0.0001	8.033e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	2.24e-05	0	0	0	0.0005	5.126e-05	0.0001	0.0013	3.944e-05	3.94e-05	3.855e-05	4.038e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0004	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.010607	0.29855	U	0.201917	0.999882	0.19853	N	3.02	0.86243	M	1.14	0.38397	T	-9.21	0.98250	D	0.412	0.45237	-0.8050	0.54849	T	0.264	0.63490	T	10	0.26241052	0.43709	T	0.003103	0.06726	T	0.103	0.29403	.	.	0.481172606772	0.47747	0.3118265120671581	0.31095	0.0459309199276	0.04987	0.358314812183	0.19139	T	0.110878	0.42592	T	-0.358605	0.04209	T	-0.328421	0.41645	T	0.355303487014839	0.27226	T	.	.	.	0.8840537	0.90003	0.8949926	0.94621	0.8840537	0.90005	0.8949926	0.94621	-7.382	0.56778	T	.	.	0.854	0.79965	P	.	.	2.447264	0.31507	18.76	0.97372279412855833	0.33627	0.07634	0.13642	N	AEFBI	0.101951	0.20463	N	-0.0288565552717507	0.40552	2.41018	-0.366365463056316	0.26008	1.433802	1.5107415818941E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.63	1.12	0.19700	0.799000	0.26688	-3.706000	0.02591	0.666000	0.68947	0.003000	0.16062	0.000000	0.08366	0.056000	0.15673	0.6357:0.1856:0.0:0.1787	5.132	0.14249	822	0.40702	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2214.33	35	chr12	10809772	.	A	G	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.389;DP=845;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.14;SOR=0.83	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr12	10825592	10825592	C	T	exonic	TAS2R10	.	nonsynonymous SNV	TAS2R10:NM_023921:exon1:c.G678A:p.M226I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00576117022313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.339	0.18071	T	0.338	0.33405	B	0.456	0.46291	P	0.000171	0.48594	D	0.136757	0.915916	0.27404	N	1.38	0.34346	L	5.85	0.00643	T	-2.62	0.56301	D	0.136	0.13341	-0.9358	0.43272	T	0.004	0.01295	T	10	0.19957632	0.35971	T	0.005761	0.14952	T	0.090	0.26093	0.642	0.77903	0.134241683229	0.13084	0.06612702022108405	0.06551	0.0341080048368	0.03582	0.274387776852	0.06721	T	0.043091	0.26392	T	-0.286774	0.09962	T	-0.649707	0.08975	T	0.913980603218079	0.57044	D	.	.	.	0.22002131	0.44548	0.22740577	0.47749	0.22002131	0.44548	0.22740577	0.47748	-3.018	0.10376	T	.	.	0.389	0.58936	A	.	.	1.623298	0.20733	14.88	0.96833891435475461	0.31274	0.11849	0.16901	N	AEFI	0.076839	0.15466	N	-0.607087503059365	0.18730	0.9747847	-0.601932808638129	0.19444	1.043202	3.29030729013591E-4	0.06540	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.81	2.8	0.31881	-0.365000	0.07626	-1.230000	0.05962	-0.314000	0.05961	0.005000	0.17040	0.000000	0.08366	0.869000	0.41347	0.4886:0.5114:0.0:0.0	10.317	0.42925	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1734.33	33	chr12	10825592	.	C	T	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.499;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.027;SOR=0.672	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	18	0	1	0
chr12	10909081	10909081	A	T	exonic	TAS2R13	.	nonsynonymous SNV	TAS2R13:NM_023920:exon1:c.T218A:p.L73Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00252496509176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.288	0.21144	T	0.038	0.21002	B	0.103	0.30945	B	0.974799	0.07802	U	1.014980	1	0.08975	N	0.225	0.09600	N	1.23	0.36872	T	0.95	0.01509	N	0.147	0.14905	-0.9567	0.39789	T	0.061	0.25492	T	10	0.073278815	0.11049	T	0.002525	0.05037	T	0.042	0.11227	0.533	0.64148	0.171220215726	0.16700	0.027255507470469464	0.02675	0.0160503617592	0.01538	0.237141251564	0.02538	T	0.015996	0.13307	T	-0.211553	0.19161	T	-0.541657	0.18134	T	0.0962587748026742	0.11940	T	.	.	.	0.09235622	0.21664	0.079499185	0.17902	0.09235622	0.21664	0.079499185	0.17902	-2.498	0.05767	T	.	.	0.083	0.09045	B	.	.	0.230311	0.06116	2.561	0.75778898039463327	0.11208	0.02405	0.06810	N	AEFHCI	0.031011	0.03231	N	-1.10122060801746	0.06622	0.3053517	-1.17601128088607	0.06312	0.3034591	0.0698830030352836	0.15505	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.503917	0.08554	0	.	.	3.3	0.059	0.13643	-0.964000	0.03943	-2.606000	0.03556	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.278:0.232:0.49:0.0	3.117	0.05996	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1804.33	41	chr12	10909081	.	A	T	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=883;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.632;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr12	10930685	10930685	A	C	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.A124C:p.I42L	.	422	1079	21	0	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00157848723934	.	.	0.0004	0.0021	0.0003	0.0001	0	0.0002	0.0011	0.0004	0.0017289	45	26028	rs2923234	0.0007	0.0030	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0.0010	0.0011	0.0005	0.0003	0.0002	0.0005	0.0010	0.0017	0.0031	0.0054	0.0033	0.0028	0.0061	0.0028	0.0027	0.0055	0.0052	0.0061	0	0.0016	0.0033	0.0002	0.0008	0	0.0021	0.0035	0.0030	0.532	0.06980	T	0.656	0.06598	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	0.05	0.06369	N	0.164	0.17278	-0.9454	0.41748	T	0.018	0.07612	T	9	0.005495906	0.00121	T	0.001578	0.02523	T	0.006	0.00375	0.223	0.14665	0.043077524339	0.03247	0.031072521489905844	0.03056	1.57927069771	0.88367	0.282763034105	0.07881	T	.	.	.	-0.343694	0.05137	T	-0.731469	0.04261	T	0.00418809267600828	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00297	B	.;.	.;.	-1.403301	0.00358	0.006	0.21598653107946342	0.00830	0.00037	0.00318	N	AEFGI	0.019380	0.00667	N	-2.12225054748313	0.00114	0.004894974	-2.19931340376998	0.00112	0.004941841	0.847810366629689	0.24987	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	0.904	-1.81	0.07456	-1.135000	0.03337	-9.997000	0.00751	-2.508000	0.00261	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2436:0.5518:0.0:0.2046	3.420	0.06962	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	200.33	37	chr12	10930685	.	A	C	200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=1509;ExcessHet=0;FS=36.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48;MQRankSum=-5.569;QD=1.63;ReadPosRankSum=0.835;SOR=5.267	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	18	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	11	0	8	0
chr12	11034812	11034812	A	C	exonic	PRH1-TAS2R14	.	nonsynonymous SNV	PRH1-TAS2R14:NM_001316893:exon3:c.T110G:p.L37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	493.33	34	chr12	11034812	.	A	C	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=667;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.9;MQRankSum=-0.383;QD=12.33;ReadPosRankSum=-0.383;SOR=0.336	GT:AD:DP:GQ:PL	0/1:17,23:40:99:507,0,459	18	0	1	0
chr12	11091537	11091538	CA	-	exonic	TAS2R43	.	frameshift deletion	TAS2R43:NM_176884:exon1:c.692_693del:p.V231Dfs*37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	1.21e-05	4.363e-05	1.214e-05	1.206e-05	8.1e-06	7.16e-06	5.8e-06	3.48e-06	2.52e-06	0	0	0.0003	0	0	0	8.1e-06	1.789e-05	0	7.363e-06	7.922e-05	0	1.515e-05	7.483e-05	0	0	.	.	0	0	7.483e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	945.29	228	chr12	11091536	.	TCA	T	945.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.118;DP=4271;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-12.03;QD=5.91;ReadPosRankSum=1.47;SOR=0.765	GT:AD:DP:GQ:PL	0/0:186,0:186:99:0,120,1800	18	0	1	0
chr12	11091839	11091839	C	T	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.G391A:p.V131M	.	459	1026	32	5	0	42	0.0200573	.	.	.	2810184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0050	0.00399361	0.0046	0.0011	0.0035	0	0.0005	0.0066	0.0126	0.0033	0.0039909	617	154602	rs186718859	0.0049	0.0046	0.0049	0.0049	0.0390	0.0048	0.0048	0.0348	0.0332	0.0013	0.0053	0.0234	2.529e-05	0.0003	0.0390	0.0047	0.0080	0.0036	0.0050	0.0045	0.0051	0.0050	0.0115	0.0047	0.0046	0.0100	0.0094	0.0010	0	0.0115	0.0294	0	0.0001	0.0483	0.0059	0.0072	0.0031	0.225	0.18626	T	0.189	0.28575	T	0.795	0.44777	P	0.714	0.54635	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	5.7	0.00742	T	-1.21	0.30762	N	0.088	0.06587	-0.8727	0.50326	T	0.003	0.00961	T	9	0.01653698	0.00349	T	.	.	.	0.023	0.04649	.	.	0.21737058555	0.21362	0.11926794117223397	0.11853	0.187907574998	0.21116	0.252214491367	0.04005	T	0.008581	0.07868	T	-0.338172	0.05515	T	-0.723537	0.04626	T	0.0180244596414497	0.00526	T	0.860814	0.55431	D	0.067621015	0.14658	0.085668504	0.19797	0.067621015	0.14658	0.085668504	0.19796	-5.353	0.40464	T	.	.	0.142	0.31304	B	.	.	-0.316511	0.02545	0.307	0.95792710937999048	0.27836	0.00158	0.00946	N	AEFI	0.024026	0.01424	N	-0.703983466663494	0.15909	0.8059916	-0.940122615972782	0.11153	0.5664451	7.70814022812138E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	1.97	-0.0553	0.13141	-2.257000	0.01262	-20.000000	0.00162	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5586:0.0:0.4413	3.892	0.08627	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042510	0.070707	0.051630	0.045181	0.050000	0.068966	0.021341	0.011364	0.02632	3101.33	188	chr12	11091839	.	C	T	3101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=2718;ExcessHet=0;FS=2.767;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=2.4;QD=12.21;ReadPosRankSum=-1.765;SOR=0.878	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	18	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6757.31	90	chr12	11092088	.	G	*	6757.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.327;DP=2086;ExcessHet=16.4124;FS=7.478;InbreedingCoeff=-0.579;MLEAC=1;MLEAF=0.026;MQ=56.71;MQRankSum=-9.401;QD=3.93;ReadPosRankSum=0.388;SOR=1.232	GT:AD:DP:GQ:PL	0/0:83,0:94:61:61,310,2924	18	0	1	0
chr12	11186920	11186920	G	-	exonic	TAS2R42	.	frameshift deletion	TAS2R42:NM_181429:exon1:c.18delC:p.D6Efs*5	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.38e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs754349642	3.016e-05	3.078e-05	1.635e-05	4.412e-05	0.0004	2.286e-05	2.036e-05	0.0003	0.0002	0	2.239e-05	0	0	0	0	6.306e-06	8.289e-05	0.0004	6.698e-06	6.572e-06	0	1.376e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1024.29	40	chr12	11186919	.	TG	T	1024.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.07;DP=936;ExcessHet=0;FS=5.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.347;SOR=1.449	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr12	11267441	11267441	G	0	exonic	PRB3	.	.	.	.	1030	18	92	373	9	847	0.95881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	7799.25	152	chr12	11267441	.	G	*	7799.25	.	AC=2;AF=0.333;AN=6;DP=3257;ExcessHet=0;FS=0;InbreedingCoeff=0.4242;MLEAC=6;MLEAF=1;MQ=57.19;QD=18.05;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:182,0:182:0:.:.:0,0,0:.	2	1	0	16
chr12	11267457	11267583	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	0	exonic	PRB3	.	.	.	.	450	833	197	30	12	269	0.133645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1784.63	55	chr12	11267457	.	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	*	1784.63	.	AC=2;AF=0.083;AN=24;DP=1792;ExcessHet=0;FS=1.517;InbreedingCoeff=0.1648;MLEAC=3;MLEAF=0.125;MQ=50.72;MQRankSum=3.88;QD=6.76;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:151,0:151:0:.:.:0,0,1265:.	11	1	0	7
chr12	11308713	11308713	T	A	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.A270T:p.Q90H,PRB4:NM_002723:exon3:c.A270T:p.Q90H	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00075156988479	0.0052	0.00359425	0.0024	0.0005	0.0006	0	0.0005	0.0031	0.0022	0.0039	0.0023156	358	154602	rs112990250	0.0026	0.0027	0.0026	0.0026	0.0038	0.0025	0.0025	0.0035	0.0033	0.0002	0.0013	0.0072	0	0.0004	0.0030	0.0027	0.0029	0.0038	0.0028	0.0030	0.0027	0.0029	0.0050	0.0026	0.0025	0.0042	0.0040	0.0007	0	0.0013	0.0119	0	0.0002	0	0.0046	0.0024	0.0050	0.0	0.91255	D	0.141	0.33442	T	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	.	.	.	3.61	0.04446	T	-0.64	0.52451	N	0.285	0.34874	-1.0302	0.20390	T	0.011	0.04369	T	8	0.006331533	0.00143	T	7.52E-4	0.00529	T	0.080	0.23350	0.249	0.18602	0.0297737177859	0.01360	0.14059251197797693	0.13982	5.81669046081E-4	0.00054	.	.	.	0.013	0.11527	T	-0.53173	0.00375	T	-0.534235	0.18865	T	0.0148388368170142	0.00313	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.57280	B	.;.;.;.	.;.;.;.	0.596357	0.09647	6.420	0.69968095123295138	0.09143	0.00226	0.01270	N	AEFBI	0.031791	0.03466	N	-0.80667105089402	0.13139	0.6452152	-1.111829060281	0.07473	0.3636471	4.84455279906107E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.687	-1.37	0.08582	-3.217000	0.00612	-8.950000	0.00889	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001587	0.000000	0.000000	0.004098	0.000000	0.000000	0.009146	0.000000	0.02632	2429.33	194	chr12	11308713	.	T	A	2429.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.523;DP=4907;ExcessHet=0;FS=3.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.76;MQRankSum=-0.09;QD=9.1;ReadPosRankSum=-1.352;SOR=0.541	GT:AD:DP:GQ:PL	0/0:311,0:311:99:0,120,1800	18	0	1	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H,PRB4:NM_002723:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1330.94	115	chr12	11308825	.	G	T	1330.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.958;DP=3795;ExcessHet=0.119;FS=2.05;InbreedingCoeff=-0.0547;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-5.993;QD=2.1;ReadPosRankSum=-5.845;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:209,0:209:99:.:.:0,120,1800:.	17	0	2	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	28882.6	63	chr12	11353413	.	G	*	28882.6	.	AC=4;AF=0.143;AN=28;BaseQRankSum=1.73;DP=5063;ExcessHet=0.0911;FS=8.727;InbreedingCoeff=0.2733;MLEAC=5;MLEAF=0.179;MQ=50.96;MQRankSum=0.41;QD=14.59;ReadPosRankSum=0.493;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:172,0:246:99:0|1:11353413_G_A:1876,2502,9582:11353413	11	1	2	5
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	14621.9	35	chr12	11353469	.	A	*	14621.9	.	AC=5;AF=0.192;AN=26;BaseQRankSum=1.62;DP=4329;ExcessHet=0.3267;FS=13.408;InbreedingCoeff=0.1767;MLEAC=7;MLEAF=0.269;MQ=52.52;MQRankSum=-1.782;QD=11.97;ReadPosRankSum=-0.315;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:314,0:314:0:.:.:0,0,0:.	10	2	1	6
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15923.7	37	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	15923.7	.	AC=6;AF=0.25;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:314,0:314:0:.:.:0,0,0:.	8	2	2	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	15923.7	37	chr12	11353474	.	C	*	15923.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:314,0:314:0:.:.:0,0,0:.	9	2	1	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	./.:473,0:473:0:0,0,10497	5	3	2	9
chr12	11393389	11393389	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A689G:p.N230S,PRB2:NM_006248:exon3:c.A689G:p.N230S	.	435	1073	12	2	0	16	0.00740056	.	.	.	3907984	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.000486918617216	.	.	0.0004	0.0002	0.0002	0	0	0.0004	0.0011	0.0012	0.0001921	5	26028	rs775513569	1.371e-06	3.902e-05	1.364e-06	1.378e-06	2.334e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.334e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02742	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.6	0.04494	T	-0.07	0.08033	N	0.035	0.01004	-0.8923	0.48731	T	0.009	0.03227	T	9	0.028829008	0.01012	T	4.87E-4	0.00143	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.04384037740566545	0.04328	0.0547928800193	0.06069	.	.	.	.	.	.	-0.439859	0.01296	T	-0.869604	0.00746	T	0.0317482109287821	0.02266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	-0.605176	0.01558	0.102	0.26337058837095856	0.01257	0.00108	0.00689	N	AEFBI	0.022613	0.01153	N	-1.78002062978341	0.00596	0.02567627	-1.88998809501248	0.00512	0.02270753	2.60052130758384E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.892	-1.78	0.07527	-0.048000	0.11898	-5.098000	0.01850	-0.625000	0.04531	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.247:0.0:0.753	4.582	0.11658	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001587	0.000000	0.001359	0.000000	0.000000	0.008772	0.003049	0.000000	0.05263	431.83	102	chr12	11393389	.	T	C	431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=3190;ExcessHet=0.119;FS=13.624;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.08;MQRankSum=-5.051;QD=1.39;ReadPosRankSum=-2.98;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	17	0	2	0
chr12	11393392	11393392	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A686G:p.D229G,PRB2:NM_006248:exon3:c.A686G:p.D229G	.	434	1074	12	2	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000385675308946	.	.	0.0001	0.0001	8.637e-05	0	0	0.0001	0	0.0005	0.0001537	4	26028	rs1244336640	1.387e-06	2.806e-05	2.76e-06	0	2.581e-05	2.3e-07	9e-08	.	.	0	0	0	2.581e-05	0	0	0	0	1.178e-05	1.007e-05	1.55e-05	0	2.083e-05	4.47e-05	0	0	.	.	4.47e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.898	0.03065	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.56	0.01933	T	-1.32	0.32991	N	0.059	0.03069	-0.9246	0.44915	T	0.003	0.00832	T	9	0.038134128	0.02212	T	3.86E-4	0.00059	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.09402591042167927	0.09334	0.0850906221602	0.09619	.	.	.	.	.	.	-0.434416	0.01395	T	-0.861785	0.00824	T	0.0382967305688353	0.03384	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08512	B	.	.	-0.980155	0.00800	0.026	0.34512470894480179	0.02115	0.00032	0.00291	N	AEFBI	0.017448	0.00458	N	-1.90524634732558	0.00335	0.01438476	-1.94847417651649	0.00391	0.01730527	1.96888064785958E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.277000	0.01242	-1.127000	0.06250	-1.882000	0.00541	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4527:0.1986:0.3487	3.875	0.08559	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	354.83	99	chr12	11393392	.	T	C	354.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=3187;ExcessHet=0.119;FS=12.704;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.9;MQRankSum=-4.918;QD=1.17;ReadPosRankSum=-2.714;SOR=1.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	17	0	2	0
chr12	11393579	11393701	CTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.377_499del:p.126_167del,PRB2:NM_006248:exon3:c.377_499del:p.G126_G166del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.522e-05	0	0	0	0	0.0001	0	6.268e-05	.	.	.	.	0.0001	0.0001	8.063e-05	0.0002	0.0007	0.0001	9.539e-05	0.0002	0.0002	2.995e-05	8.992e-05	0.0033	0	5.645e-05	0.0007	3.7e-05	9.996e-05	0.0003	5.666e-05	4.886e-05	3.133e-05	8.374e-05	2.912e-05	2.651e-05	1.811e-05	.	.	2.912e-05	0	0	0.0020	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2617.29	96	chr12	11393578	.	TCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC	T	2617.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=3298;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.03;MQRankSum=-0.786;QD=7.65;ReadPosRankSum=-2.871;SOR=0.795	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q,PRB2:NM_006248:exon3:c.G326A:p.R109Q	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.437632	0.414141	0.463315	0.422131	0.400000	0.422414	0.426829	0.435606	0.03571	1367.59	299	chr12	11393752	.	C	T	1367.59	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.327;DP=4960;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.1016;MLEAC=1;MLEAF=0.036;MQ=55.78;MQRankSum=-0.811;QD=11.03;ReadPosRankSum=1.46;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	13	0	1	5
chr12	12149125	12149125	G	A	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon14:c.C3023T:p.P1008L	Tooth agenesis, selective, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0604175544044	.	.	6.589e-05	0	8.637e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs763102419	3.078e-05	3.078e-05	3.131e-05	3.025e-05	3.777e-05	2.347e-05	2.095e-05	2.828e-05	2.507e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0	3.291e-05	3.285e-05	2.573e-05	4.043e-05	7.255e-05	1.262e-05	7.99e-06	1.924e-05	1.033e-05	7.255e-05	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.305	0.20037	T	0.175	0.28858	B	0.03	0.21741	B	0.000559	0.43413	U	0.098576	0.999618	0.47849	D	0.115	0.08564	N	-2.81	0.91134	D	-1.77	0.41809	N	0.229	0.25745	-0.3401	0.73841	T	0.448	0.78324	T	10	0.18688467	0.34174	T	0.060418	0.67993	D	0.370	0.68930	0.538	0.64874	0.535826458596	0.53234	0.4639593161778009	0.46314	0.534637665634	0.50860	0.593390226364	0.51973	T	0.444779	0.78805	T	-0.0713853	0.41103	T	-0.135766	0.60483	T	0.0832841446421765	0.10402	T	.	.	.	0.037954926	0.04964	0.072655015	0.15698	0.037954926	0.04964	0.072655015	0.15698	-3.579	0.17553	T	.	.	0.096	0.23952	B	.;.	.;.	3.273827	0.44829	22.0	0.97160680536740718	0.32629	0.96514	0.69520	D	AEFDBI	0.304781	0.41238	N	-0.259400883574338	0.30730	1.716219	-0.0344629152912917	0.38169	2.245008	0.701091624491579	0.22701	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.458000	0.44671	5.880000	0.50633	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	20.301	0.98613	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	42	chr12	12149125	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=797;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.205;SOR=1.091	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	18	0	1	0
chr12	12330434	12330434	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A889G:p.M297V,MANSC1:NM_001363613:exon5:c.A787G:p.M263V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0015330400996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371246177	3.42e-06	3.42e-06	5.445e-06	1.375e-06	0.0002	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.03926	T	0.91	0.05767	T	0.001	0.07471	B	0.0	0.01387	B	0.010522	0.01278	N	3.036110	1	0.08975	N	1.155	0.29575	L	2.38	0.20387	T	-0.44	0.14588	N	0.015	0.00226	-1.0365	0.18388	T	0.025	0.10821	T	10	0.03923297	0.02398	T	0.001533	0.02394	T	0.001	0.00016	0.221	0.14371	0.0138822411134	0.00435	0.1476285053032116	0.14684	0.0906167406109	0.10225	0.201298713684	0.00495	T	0.001773	0.02708	T	-0.524867	0.00412	T	-0.810183	0.01661	T	0.0237871090456307	0.01118	T	.	.	.	0.020065919	0.00553	0.031011634	0.01631	0.020065919	0.00553	0.031011634	0.01631	-2.331	0.04728	T	.	.	0.062	0.02370	B	.;.;.	.;.;.	-1.874761	0.00134	0.002	0.46040259199386191	0.03658	0.02664	0.07282	N	AEFBI	0.077077	0.15521	N	-1.29746587640715	0.03706	0.1660392	-1.29898059859757	0.04445	0.2096717	0.887787933168935	0.25773	0.706548	0.73137	0	0.624146	0.53433	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.63	-2.53	0.05959	-2.326000	0.01195	-5.974000	0.01535	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.2813:0.3212:0.3975	4.482	0.11184	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2189.33	98	chr12	12330434	.	T	C	2189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.805;DP=1627;ExcessHet=0;FS=5.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.635;SOR=0.798	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	0	1	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	14	0	5	0
chr12	12908649	12908649	A	G	exonic	GPRC5A	.	nonsynonymous SNV	GPRC5A:NM_003979:exon2:c.A400G:p.I134V	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0232343930119	0.0068	0.00279553	0.0063	0.0011	0.0058	0	0.0018	0.0097	0.0033	0.0015	0.0063324	979	154602	rs146456083	0.0081	0.0081	0.0082	0.0080	0.0118	0.0080	0.0080	0.0095	0.0091	0.0013	0.0061	0.0160	0	0.0023	0.0118	0.0093	0.0080	0.0018	0.0059	0.0059	0.0062	0.0055	0.0095	0.0056	0.0054	0.0089	0.0086	0.0013	0.0033	0.0060	0.0130	0.0006	0.0016	0.0272	0.0095	0.0080	0.0029	0.053	0.38863	T	0.429	0.15842	T	0.139	0.27501	B	0.026	0.20792	B	0.340148	0.13976	N	0.710623	1	0.08975	N	1.95	0.52479	M	-2.29	0.87591	D	-0.4	0.13805	N	0.098	0.07949	-0.7468	0.58102	T	0.355	0.71774	T	10	0.009804606	0.00220	T	0.023234	0.46189	T	0.113	0.31778	.	.	0.459282285925	0.45551	0.09799676066710526	0.09730	0.0405854047819	0.04348	0.284715533257	0.08158	T	0.255836	0.62667	T	-0.357346	0.04282	T	-0.278117	0.46998	T	0.00653458727677705	0.00073	T	0.691931	0.30130	T	0.07007527	0.15406	0.055050515	0.09583	0.07007527	0.15406	0.055050515	0.09582	-3.403	0.15097	T	.	.	0.101	0.23465	B	.;.;.	.;.;.	1.161654	0.15504	11.90	0.86613532475089228	0.16654	0.55143	0.29790	D	AEFGBHCI	0.228861	0.35247	N	-0.552226736514286	0.20414	1.07596	-0.49246902524428	0.22361	1.214123	0.999998467325783	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.63	1.59	0.22622	1.045000	0.29951	1.298000	0.25456	0.756000	0.94297	0.980000	0.35271	0.685000	0.26142	0.203000	0.21983	0.4074:0.3099:0.0:0.2827	6.596	0.21869	923	0.18507	GPCR family 3, C-terminal;GPCR family 3, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.025253	0.009511	0.008772	0.000000	0.000000	0.009146	0.003788	0.02632	2608.33	33	chr12	12908649	.	A	G	2608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=852;ExcessHet=0;FS=5.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.72;SOR=0.859	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr12	13055794	13055794	C	T	exonic	FAM234B	.	nonsynonymous SNV	FAM234B:NM_020853:exon2:c.C281T:p.A94V	.	431	1086	2	3	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.187664242787	.	.	6.659e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs146476799	3.899e-05	3.899e-05	2.45e-05	5.363e-05	0.0005	3.047e-05	2.783e-05	0.0003	0.0003	0	0	3.826e-05	0	0	0.0003	9.892e-06	6.623e-05	0.0005	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.056	0.38185	T	0.088	0.40586	T	0.745	0.43117	P	0.212	0.37394	B	0.097356	0.20031	N	0.559394	0.864204	0.35443	D	.	.	.	1.63	0.28002	T	-1.67	0.39887	N	0.373	0.41459	-0.9526	0.40520	T	0.076	0.30366	T	10	0.14741069	0.27932	T	0.187664	0.85952	D	0.053	0.14996	0.29	0.25081	0.273070737957	0.26916	0.24069767310555254	0.23983	0.261934215606	0.28761	0.358945459127	0.19232	T	0.023963	0.18199	T	-0.517988	0.00452	T	-0.621036	0.11105	T	0.0974271595478058	0.12071	T	.	.	.	0.046631597	0.07837	0.0806153	0.18250	0.046631597	0.07837	0.0806153	0.18250	-4.633	0.32583	T	.	.	0.088	0.11893	B	.	.	2.889734	0.38266	20.7	0.99849828940833685	0.92925	0.97082	0.72584	D	AEFBI	0.393787	0.47130	N	0.172797268025799	0.49895	3.185011	0.205006034272231	0.50125	3.207859	0.990689678259489	0.32235	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.33	4.44	0.53164	3.439000	0.52642	4.045000	0.41458	-0.181000	0.10308	0.994000	0.38300	0.999000	0.35428	0.117000	0.19042	0.0:0.9266:0.0:0.0734	13.855	0.63017	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2419.33	34	chr12	13055794	.	C	T	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.354;DP=838;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.03;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	18	0	1	0
chr12	13088043	13088043	G	A	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001367364:exon4:c.C553T:p.P185S,GSG1:NM_031289:exon4:c.C514T:p.P172S,GSG1:NM_001080554:exon5:c.C622T:p.P208S,GSG1:NM_001367358:exon5:c.C622T:p.P208S,GSG1:NM_001367361:exon5:c.C694T:p.P232S	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00419329	0.0021	0	0.0002	0	0	0	0.0022	0.0154	0.0018823	291	154602	rs369468787	0.0009	0.0009	0.0005	0.0014	0.0147	0.0009	0.0009	0.0140	0.0138	5.974e-05	0	0	0	0	0.0003	7.194e-06	0.0008	0.0147	0.0006	0.0006	0.0004	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	4.811e-05	0	0	0	0	0	0	0	0	0.0189	0.17	0.23997	T	0.38	0.16280	T	0.014	0.16867	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	.	.	.	1.46	0.38073	T	0.33	0.04861	N	0.326	0.44761	-1.0782	0.07701	T	0.037	0.16160	T	7	0.0041415393	0.00082	T	.	.	.	0.006	0.00375	0.35	0.34760	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.501388	0.00562	T	-0.480661	0.24378	T	0.0285916568970058	0.01775	T	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-3.635	0.18364	T	.	.	0.096	0.19720	B	.;.;.	.;.;.	1.034376	0.14145	10.72	0.77574961428259204	0.11933	0.04956	0.10720	N	AEFGBHCI	0.043835	0.06979	N	-1.6589577351394	0.00998	0.04325623	-1.80237361637414	0.00751	0.03350434	0.999999999982177	0.74766	0.50284	0.20314	0	0.563428	0.19063	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.58	-11.2	0.00099	-3.690000	0.00440	-5.846000	0.01576	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.481000	0.28588	0.068:0.1669:0.4926:0.2725	7.563	0.27027	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1961.33	36	chr12	13088043	.	G	A	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=786;ExcessHet=0;FS=1.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.87;SOR=0.787	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1461	18	0	1	0
chr12	13211542	13211542	T	G	exonic	EMP1	.	nonsynonymous SNV	EMP1:NM_001423:exon2:c.T32G:p.V11G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.265417233147	.	0.00159744	0.0012	0.0002	0.0059	0	0	0.0011	0	0.0003	0.0010608	164	154602	rs147282605	0.0012	0.0012	0.0012	0.0011	0.0041	0.0011	0.0011	0.0036	0.0035	0.0004	0.0041	3.827e-05	0	3.744e-05	0.0028	0.0012	0.0014	0.0004	0.0010	0.0010	0.0011	0.0009	0.0031	0.0008	0.0008	0.0024	0.0021	0.0003	0	0.0031	0	0	0	0.0034	0.0012	0.0019	0.0002	0.006	0.78490	D	0.009	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000536	0.43581	D	0.237292	1	0.81001	D	2.96	0.85114	M	-2.48	0.89071	D	-4.21	0.81985	D	0.442	0.60749	0.614	0.92076	D	0.803	0.93340	D	10	0.023023903	0.00591	T	0.265417	0.89673	D	0.764	0.92004	.	.	0.974378769274	0.97409	0.8690739417242321	0.86872	0.811444316157	0.66751	0.549664616585	0.45811	T	0.712728	0.91819	D	0.073392	0.61259	D	0.331173	0.89557	D	0.0873188312165031	0.10897	T	0.692631	0.33984	T	0.4240009	0.62357	0.59048384	0.76239	0.4240009	0.62357	0.59048384	0.76240	-7.675	0.58834	D	.	.	0.545	0.70130	A	.;.;.;.	.;.;.;.	4.151955	0.62284	24.4	0.98955195339616286	0.49208	0.92281	0.55351	D	AEFDGBCI	0.873045	0.79520	D	0.712245982466469	0.80436	7.293597	0.713503925572113	0.83404	8.012705	0.999999999999995	0.74766	0.730579	0.87903	0	0.627178	0.54094	0	0.527494	0.11647	0	0.648885	0.59868	0	.	.	6.16	6.16	0.99302	4.828000	0.62420	3.487000	0.38689	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.806	0.85530	733	0.53988	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3842.83	39	chr12	13211542	.	T	G	3842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.88;DP=845;ExcessHet=0.119;FS=10.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.836;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1283:.	17	0	2	0
chr12	14676909	14676909	G	A	exonic	GUCY2C	.	nonsynonymous SNV	GUCY2C:NM_004963:exon7:c.C893T:p.T298M	Diarrhea 6, Autosomal dominant;Meconium ileus, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	725024	Meconium_ileus|not_provided	Human_Phenotype_Ontology:HP:0002610,Human_Phenotype_Ontology:HP:0004401,Human_Phenotype_Ontology:HP:0004402,MONDO:MONDO:0054868,MedGen:C2939175,Orphanet:314376|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.718	0.08113235626	0.0007	0.00139776	0.0011	0.0002	0.0028	0.0015	0.0002	0.0012	0.0022	0.0004	0.0010931	169	154602	rs148946391	0.0006	0.0007	0.0007	0.0006	0.0021	0.0006	0.0006	0.0017	0.0016	0.0003	0.0021	0.0013	0.0009	5.792e-05	0.0018	0.0006	0.0010	0.0003	0.0008	0.0008	0.0009	0.0008	0.0025	0.0007	0.0007	0.0017	0.0015	0.0002	0	0.0024	0.0020	0.0025	9.45e-05	0	0.0009	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	2.14	0.59869	M	-1.94	0.84919	D	-4.63	0.79229	D	0.614	0.63035	0.590	0.91768	D	0.744	0.91263	D	10	0.11198273	0.20989	T	0.081132	0.73614	D	0.718	0.90011	.	.	0.945319187657	0.94474	0.7441699155061655	0.74362	0.756695706595	0.64042	0.521012067795	0.41769	T	0.720686	0.92104	D	-0.0969812	0.36924	T	0.0845521	0.75883	D	0.0737340945947757	0.09165	T	0.922308	0.71764	D	0.41671002	0.61872	0.4470825	0.67800	0.41671002	0.61873	0.4470825	0.67800	-8.595	0.65056	D	0.7399699083213038	0.82200	0.450	0.62182	A	.	.	4.738716	0.76397	26.5	0.99898897898823857	0.97124	0.91974	0.54667	D	AEFBI	0.590051	0.58669	D	0.760506781171412	0.83588	8.056779	0.724995651642369	0.84276	8.247316	0.140738862029311	0.17268	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	5.014000	0.63790	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	0.0:0.0:1.0:0.0	15.559	0.75963	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	398.33	30	chr12	14676909	.	G	A	398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=586;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.791;SOR=0.567	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr12	14949865	14949865	C	G	exonic	ARHGDIB	.	nonsynonymous SNV	ARHGDIB:NM_001175:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321421:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321422:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321423:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321420:exon4:c.G202C:p.V68L	.	435	1052	31	4	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00643697141439	0.0045	0.00179712	0.0039	0.0007	0.0017	0	0.0008	0.0057	0.0077	0.0033	0.003868	598	154602	rs41276686	0.0047	0.0047	0.0047	0.0048	0.0089	0.0046	0.0046	0.0069	0.0062	0.0009	0.0029	0.0202	2.52e-05	0.0010	0.0089	0.0049	0.0059	0.0041	0.0035	0.0035	0.0039	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0009	0	0.0039	0.0173	0	0.0007	0.0068	0.0049	0.0071	0.0035	0.383	0.11085	T	0.655	0.06621	T	0.0	0.02946	B	0.007	0.12992	B	0.623315	0.10756	N	0.844183	1	0.08975	N	1.465	0.36909	L	.	.	.	-0.92	0.27669	N	0.116	0.10483	-1.0043	0.28666	T	0.085	0.33071	T	9	0.00884226	0.00200	T	0.006437	0.16956	T	0.020	0.03691	.	.	0.104622674875	0.10061	0.19116943156447241	0.19034	0.152405977807	0.17200	0.288567006588	0.08715	T	0.227527	0.59284	T	-0.505251	0.00534	T	-0.495923	0.22771	T	0.00235863157850348	0.00024	T	0.852015	0.53695	D	0.10316605	0.24383	0.06509435	0.13143	0.10316605	0.24383	0.06509435	0.13143	-7.25	0.55839	T	.	.	0.165	0.36455	B	.;.;.;.;.;.	.;.;.;.;.;.	1.067310	0.14493	11.06	0.8938090796649002	0.18748	0.08200	0.14159	N	AEFDGBCI	0.082619	0.16731	N	-0.926254409698293	0.10231	0.4879214	-0.931582882893268	0.11350	0.5777253	0.99999976364513	0.74766	0.50712	0.20391	0	0.672317	0.65289	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	5.23	1.28	0.20656	0.386000	0.20429	1.028000	0.23458	-0.177000	0.10537	0.000000	0.06391	0.951000	0.29025	0.844000	0.39860	0.0:0.2506:0.0:0.7494	8.197	0.30563	546	0.72524	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2040.33	177	chr12	14949865	.	C	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=823;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.539;SOR=0.78	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr12	15501640	15501640	A	G	exonic	PTPRO	.	nonsynonymous SNV	PTPRO:NM_002848:exon5:c.A682G:p.I228V,PTPRO:NM_030667:exon5:c.A682G:p.I228V	Nephrotic syndrome, type 6, Autosomal recessive	3	1518	0	1	0	2	0.000658328	.	.	.	725025	not_provided|PTPRO-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0027	0.00159744	0.0028	0.0010	0.0016	0	0.0127	0.0034	0.0022	0	0.0027231	421	154602	rs117540301	0.0032	0.0032	0.0034	0.0031	0.0034	0.0032	0.0031	0.0033	0.0033	0.0004	0.0019	0.0007	0	0.0130	0.0003	0.0034	0.0025	1.16e-05	0.0027	0.0028	0.0024	0.0031	0.0034	0.0025	0.0024	0.0030	0.0029	0.0004	0	0.0020	0.0003	0	0.0127	0	0.0034	0.0014	0	0.121	0.27783	T	0.212	0.37589	T	0.132	0.29916	B	0.021	0.24832	B	0.000211	0.47681	D	0.000000	0.986726	0.42821	D	2.045	0.56016	M	3.64	0.04544	T	-0.3	0.11913	N	0.596	0.61511	-0.9111	0.46719	T	0.016	0.06664	T	10	0.009506106	0.00214	T	.	.	.	0.085	0.24743	.	.	0.379020345274	0.37515	0.22448935833672123	0.22363	0.258008406116	0.28354	0.547929167747	0.45565	T	0.104658	0.41442	T	-0.474368	0.00799	T	-0.454181	0.27237	T	0.0124632848575573	0.00205	T	0.870113	0.57479	D	0.09407616	0.22109	0.06429469	0.12864	0.09407616	0.22109	0.06429469	0.12864	-3.254	0.13841	T	.	.	0.101	0.24767	B	.;.;.	.;.;.	2.358979	0.30252	18.38	0.9933483486630319	0.59934	0.97794	0.77181	D	AEBI	0.665808	0.63449	D	0.0863758597678172	0.45828	2.832858	0.226309720158724	0.51313	3.314814	0.999974454736715	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.71	4.71	0.59010	5.056000	0.64112	8.973000	0.78478	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.412	0.66694	807	0.43470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	377.33	33	chr12	15501640	.	A	G	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=594;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.27;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	18	0	1	0
chr12	16194393	16194393	G	A	exonic	SLC15A5	.	nonsynonymous SNV	SLC15A5:NM_001170798:exon8:c.C1544T:p.A515V	.	434	1077	6	1	4	12	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	.	0.00998403	0.0058	0.0010	0.0032	0.0359	0	0	0	0.0128	0.0012872	199	154602	rs117728539	0.0012	0.0012	0.0009	0.0016	0.0132	0.0012	0.0012	0.0125	0.0122	0.0009	5.608e-05	0	0.0132	0	0.0007	1.856e-05	0.0024	0.0132	0.0016	0.0016	0.0014	0.0018	0.0263	0.0014	0.0014	0.0227	0.0213	0.0005	0	0.0004	0	0.0263	0	0	4.414e-05	0.0033	0.0139	0.006	0.61437	D	0.01	0.65728	D	.	.	.	.	.	.	0.002176	0.37095	N	0.265230	0.998761	0.45406	D	2.685	0.78553	M	0.03	0.62183	T	-3.28	0.65627	D	0.727	0.72835	-0.5103	0.68275	T	0.208	0.56662	T	8	0.008880258	0.00201	T	.	.	.	0.376	0.69443	.	.	0.173771789658	0.16945	0.7045948681468894	0.70401	.	.	0.51724845171	0.41238	T	0.088683	0.38210	T	-0.143459	0.29340	T	0.0434675	0.73155	D	0.0497381734880187	0.05455	T	0.881012	0.60027	D	0.26617223	0.49686	0.2662318	0.52466	0.26617223	0.49686	0.2662318	0.52465	-7.565	0.58066	D	.	.	0.346	0.56304	A	.	.	4.527601	0.71041	25.6	0.99885163396292032	0.96049	0.89528	0.50050	D	AEFI	0.380515	0.46313	N	0.350029813116638	0.58741	4.048306	0.381525753252716	0.60427	4.230082	0.00424373443881038	0.10472	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.46	0.53567	3.812000	0.55333	9.777000	0.81580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0788:0.0:0.9212:0.0	12.245	0.53880	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	40	chr12	16194393	.	G	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=863;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.986;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	18	0	1	0
chr12	16224413	16224413	C	T	splicing	SLC15A5	NM_001170798:exon6:c.1351+1G>A	.	.	.	430	1087	4	1	0	6	0.00275229	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00958466	0.0063	0.0006	0.0039	0.04	0	0	0	0.0133	0.0012742	197	154602	rs117974895	0.0013	0.0013	0.0010	0.0017	0.0135	0.0013	0.0013	0.0126	0.0124	0.0010	0.0002	0	0.0135	0	0.0005	0.0001	0.0025	0.0133	0.0017	0.0017	0.0016	0.0019	0.0268	0.0016	0.0015	0.0232	0.0218	0.0006	0	0.0009	0	0.0268	0	0	0.0001	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0909434	0.37919	T	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.552988	0.71668	25.7	0.98738716528017478	0.45467	0.97643	0.76109	D	AEFDI	.	.	.	0.937030324084066	0.93452	12.049	0.711580622138072	0.83260	7.974844	0.999950991673883	0.48110	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.978	0.81628	4.7	4.7	0.58776	6.755000	0.74710	3.832000	0.40000	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.024000	0.12247	0.0:1.0:0.0:0.0	17.820	0.88558	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	35	chr12	16224413	.	C	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.872;SOR=0.73	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	16357695	16357695	C	T	exonic	MGST1	.	nonsynonymous SNV	MGST1:NM_001260511:exon3:c.C217T:p.R73C,MGST1:NM_001260512:exon3:c.C217T:p.R73C,MGST1:NM_001267598:exon3:c.C217T:p.R73C,MGST1:NM_020300:exon3:c.C217T:p.R73C,MGST1:NM_145764:exon3:c.C217T:p.R73C,MGST1:NM_145791:exon3:c.C217T:p.R73C,MGST1:NM_145792:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	2677725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.118788373125	7.7e-05	.	0.0001	9.93e-05	0	0.0002	0.0002	9.305e-05	0	0.0003	0.0001164	18	154602	rs373917994	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0001	2.257e-05	0	7.578e-05	0.0002	0.0003	0.0001	9.954e-05	0.0005	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.247e-05	0.0001	0.0001	7.252e-05	0	6.55e-05	0	0.0002	0.0002	0	0.0002	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	0.32	0.58468	T	-7.72	0.96191	D	0.86	0.91047	0.118	0.84503	D	0.466	0.79372	T	10	0.82335246	0.81527	D	0.118788	0.79892	D	0.502	0.78475	.	.	0.845962634782	0.84448	0.8136751219624782	0.81323	0.0431053341588	0.04645	0.818475961685	0.84795	D	0.480711	0.80958	T	0.0806423	0.62116	D	0.210125	0.83672	D	0.924182653427124	0.58523	D	0.933507	0.84591	D	0.71239805	0.78740	0.5583689	0.74451	0.71239805	0.78741	0.5583689	0.74452	-13.615	0.91738	D	.	.	0.461	0.69095	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.178613	0.62890	24.5	0.9992816679546106	0.99222	0.90981	0.52629	D	AEFBI	0.886530	0.81799	D	0.673439131120672	0.77892	6.763144	0.557825351890349	0.71942	5.732537	0.99898833255758	0.38135	0.706548	0.73137	0	0.659464	0.62310	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	4.32	0.50899	3.336000	0.51830	0.801000	0.21659	0.599000	0.40250	0.993000	0.37899	0.232000	0.23790	0.990000	0.65344	0.1553:0.8447:0.0:0.0	13.588	0.61407	808	0.43318	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1003.33	36	chr12	16357695	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=731;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.03;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr12	18320998	18320998	C	G	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon7:c.C1174G:p.L392V,PIK3C2G:NM_001288774:exon7:c.C508G:p.L170V,PIK3C2G:NM_004570:exon7:c.C1174G:p.L392V	.	451	1049	18	4	0	26	0.0122411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	0.0004	0.00339457	0.0021	0.0003	0.0014	0	0	0.0011	0.0067	0.0090	0.0014359	222	154602	rs189270710	0.0009	0.0010	0.0006	0.0012	0.0111	0.0009	0.0009	0.0087	0.0078	0.0002	0.0007	7.805e-05	2.543e-05	0	0.0111	0.0005	0.0014	0.0072	0.0007	0.0007	0.0007	0.0008	0.0070	0.0006	0.0006	0.0052	0.0045	7.215e-05	0	0.0008	0	0	0	0.0204	0.0008	0	0.0070	0.016	0.51853	D	0.0	0.92824	D	0.995	0.67487	D	0.91	0.64641	D	0.000071	0.52346	D	0.000000	0.916993	0.36567	D	2.765	0.80766	M	1.16	0.64818	T	-1.62	0.38924	N	0.544	0.61933	-0.5150	0.68102	T	0.269	0.64098	T	10	0.0085992515	0.00195	T	.	.	.	0.201	0.48592	.	.	0.599340405529	0.59615	0.05888512238855398	0.05829	0.0159091030444	0.01523	0.499150782824	0.38709	T	0.039857	0.31336	T	-0.358409	0.04220	T	-0.28388	0.46406	T	0.0678820302665808	0.08351	T	0.782222	0.43226	T	0.1457468	0.33396	0.15658617	0.36654	0.1457468	0.33396	0.15658617	0.36653	-3.756	0.20149	T	.	.	0.175	0.38390	B	.;.;.;.	.;.;.;.	3.674660	0.52277	23.2	0.99835386737957632	0.91628	0.85627	0.44780	D	AEFBI	0.350359	0.44383	N	0.54592368012716	0.69835	5.413695	0.526110385088951	0.69752	5.40554	0.977723633779124	0.29849	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	2.405000	0.44201	2.756000	0.34570	-0.190000	0.09434	1.000000	0.71638	0.994000	0.32194	0.996000	0.76049	0.0:1.0:0.0:0.0	13.171	0.59021	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.018293	0.015152	0.02632	488.33	35	chr12	18320998	.	C	G	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=703;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.804;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr12	20862414	20862414	T	G	exonic	SLCO1B3;SLCO1B3-SLCO1B7	.	nonsynonymous SNV	SLCO1B3:NM_001349920:exon5:c.T400G:p.C134G,SLCO1B3-SLCO1B7:NM_001371097:exon5:c.T484G:p.C162G,SLCO1B3:NM_019844:exon7:c.T484G:p.C162G	.	267	1242	11	2	0	15	0.0060024	.	.	.	609824	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	0.0403578984814	0.0002	0.00139776	0.0015	0.0002	0.0003	0	0	0.0005	0.0055	0.0085	0.0013001	201	154602	rs140353351	0.0009	0.0010	0.0006	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	6.03e-05	0.0002	0.0001	0	0	0.0045	0.0004	0.0008	0.0092	0.0005	0.0005	0.0003	0.0007	0.0085	0.0004	0.0004	0.0064	0.0057	7.216e-05	0	0.0002	0.0003	0	0	0.0136	0.0004	0	0.0085	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.993	0.81110	D	0.058082	0.22430	N	0.463335	0.998294	0.81001	D	3.125	0.87999	M	1.11	0.38883	T	-10.75	0.99178	D	0.494	0.57604	-0.5462	0.66930	T	0.286	0.65821	T	10	0.010039598	0.00225	T	0.040358	0.59331	D	0.216	0.50959	.	.	0.446913017954	0.44314	0.6056558106755978	0.60496	0.0274802582531	0.03518	0.265899002552	0.05614	T	0.504018	0.82328	D	-0.375173	0.03341	T	-0.304722	0.44223	T	0.230741636406172	0.21987	T	0.731327	0.34859	T	0.78773934	0.83132	0.7530491	0.85404	0.78773934	0.83133	0.7530491	0.85405	-11.407	0.81843	D	0.6090045325812301	0.67647	0.305	0.53417	B	.;.;.;.	.;.;.;.	3.016421	0.40355	21.2	0.87251177246554401	0.17094	0.93555	0.58537	D	AEFI	0.871192	0.79246	D	0.190699559100681	0.50753	3.262355	-0.055353308416971	0.37258	2.179165	0.0015351721224606	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.79	2.63	0.30420	3.711000	0.54596	1.784000	0.28742	0.500000	0.22704	1.000000	0.71638	0.987000	0.30940	0.009000	0.08673	0.0:0.0928:0.0:0.9072	8.801	0.34069	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.017241	0.003049	0.015152	0.02632	3009.33	49	chr12	20862414	.	T	G	3009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=1468;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.107;SOR=0.79	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr12	21043363	21043363	C	G	exonic	SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon6:c.C616G:p.R206G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0285448385551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.108837	1	0.81001	D	3.805	0.95442	H	0.64	0.52867	T	-6.82	0.92980	D	0.88	0.87808	-0.1699	0.78431	T	0.350	0.71399	T	10	0.8803731	0.87345	D	0.028545	0.51207	D	0.470	0.76421	0.655	0.79276	0.613844073566	0.61072	0.724379286458256	0.72381	0.0284688338621	0.02927	.	.	.	0.119629	0.44129	T	0.21176	0.74996	D	0.0664027	0.74669	D	0.99315345287323	0.83844	D	0.937606	0.76517	D	0.7867848	0.83073	0.6706114	0.80673	0.7867848	0.83074	0.6706114	0.80674	-9.574	0.71319	D	.	.	0.634	0.73157	P	.;.	.;.	1.981534	0.25175	16.67	0.99668763860333653	0.78458	0.88626	0.48642	D	AEFBI	0.575784	0.57804	D	0.494912321697385	0.66790	4.996158	0.312297906702409	0.56261	3.789252	0.00103519058070715	0.08148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	4.181000	0.58100	4.791000	0.44900	0.385000	0.20450	0.998000	0.41325	1.000000	0.68203	0.625000	0.32026	0.0:1.0:0.0:0.0	11.320	0.48651	923	0.18507	.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	33	chr12	21043363	.	C	G	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=748;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.31;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1347	18	0	1	0
chr12	21638366	21638366	T	C	exonic	LDHB	.	nonsynonymous SNV	LDHB:NM_001174097:exon6:c.A700G:p.M234V,LDHB:NM_002300:exon6:c.A700G:p.M234V	.	153	1368	1	0	0	1	0.000365364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.015635208065	.	.	8.246e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs754069527	4.184e-06	6.842e-06	1.391e-06	6.991e-06	0.0002	1.51e-06	9.9e-07	9.31e-06	4.58e-06	0	0	0	0	0	0.0002	9.2e-07	1.682e-05	3.504e-05	6.589e-06	6.57e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.067	0.44302	T	0.0	0.02946	B	0.002	0.06944	B	0.011454	0.29527	N	0.429354	0.990081	0.41084	D	1.275	0.32135	L	-0.2	0.66113	T	-1.62	0.38924	N	0.337	0.37820	-0.9102	0.46830	T	0.169	0.50939	T	10	0.30118746	0.47662	T	0.015635	0.36485	T	0.071	0.20720	0.472	0.54699	0.779214687457	0.77717	0.5991420976034186	0.59845	0.294151297255	0.31833	0.47282359004	0.35068	T	0.446393	0.78906	T	-0.153892	0.27706	T	-0.358201	0.38261	T	0.116274476051331	0.14061	T	0.549745	0.18930	T	0.41087112	0.61477	0.37464172	0.62625	0.41087112	0.61478	0.37464172	0.62625	-6.646	0.51403	T	.	.	0.156	0.34602	B	.;.	.;.	2.094711	0.26650	17.19	0.95419369161727374	0.26896	0.77826	0.38312	D	AEFBHCI	0.486444	0.52561	N	-0.312749958077849	0.28662	1.582858	-0.220905947502345	0.30787	1.736526	0.999430192498079	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	0.856	0.18156	0.337000	0.19582	1.547000	0.27267	0.639000	0.52094	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.201:0.0:0.2691:0.53	5.809	0.17720	735	0.53711	Lactate/malate dehydrogenase, C-terminal;Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1245.33	44	chr12	21638366	.	T	C	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=1105;ExcessHet=0;FS=9.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.178;SOR=1.057	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	83.79	53	chr12	21805301	.	G	C	83.79	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.029;DP=778;ExcessHet=0.1259;FS=114.817;InbreedingCoeff=-0.1789;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=0.24;SOR=7.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,14:50:50:0|1:21805301_G_C:50,0,759:21805301	10	0	2	7
chr12	22513363	22513363	A	-	exonic	C2CD5	.	frameshift deletion	C2CD5:NM_001286174:exon8:c.969delT:p.S323Rfs*13,C2CD5:NM_001385329:exon8:c.882delT:p.S294Rfs*13,C2CD5:NM_001385330:exon8:c.882delT:p.S294Rfs*13,C2CD5:NM_001286173:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001286175:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001286176:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001286177:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385323:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385324:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385325:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385326:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385327:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385328:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_014802:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385322:exon10:c.1161delT:p.S387Rfs*13,C2CD5:NM_001385331:exon10:c.264delT:p.S88Rfs*13,C2CD5:NM_001385333:exon10:c.264delT:p.S88Rfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1412.29	33	chr12	22513362	.	CA	C	1412.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=687;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.327;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr12	24996002	24996002	G	C	exonic	C12orf77	.	nonsynonymous SNV	C12orf77:NM_001101339:exon3:c.C212G:p.T71R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00251608829326	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs765941226	2.304e-05	1.915e-05	2.447e-05	2.158e-05	0.0011	1.598e-05	1.375e-05	0.0004	0.0003	0	5.364e-05	0	0	0	0.0011	1.992e-05	4.545e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2447.33	188	chr12	24996002	.	G	C	2447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.281;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	18	0	1	0
chr12	25225763	25225763	T	C	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_001369786:exon4:c.A301G:p.K101E,KRAS:NM_001369787:exon4:c.A301G:p.K101E,KRAS:NM_004985:exon4:c.A301G:p.K101E,KRAS:NM_033360:exon4:c.A301G:p.K101E	Bladder cancer, somatic;Breast cancer, somatic;Cardiofaciocutaneous syndrome 2;Gastric cancer, somatic;Leukemia, acute myeloid, Autosomal dominant;Lung cancer, somatic;Noonan syndrome 3;Pancreatic carcinoma, somatic;RAS-associated autoimmune leukoproliferative disorder, Autosomal dominant;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0754973201996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.23631	T	0.111	0.38305	T	0.54	0.37905	P	0.137	0.37572	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.76	0.19266	N	-1.31	0.79666	T	-2.54	0.55025	D	0.644	0.67132	-0.3731	0.72866	T	0.350	0.71439	T	10	0.5899423	0.66323	D	0.075497	0.72303	D	0.556	0.81717	0.512	0.61000	0.907845444153	0.90692	0.8113489601340396	0.81089	1.96399734804	0.93493	0.882835268974	0.94340	D	0.638353	0.88878	D	0.331299	0.85247	D	0.238112	0.85054	D	0.712783575057983	0.41337	D	0.723828	0.33737	T	0.8624753	0.88275	0.68976367	0.81747	0.8624753	0.88276	0.68976367	0.81748	-13.567	0.91564	D	0.1319803197821904	0.14031	0.699	0.72914	P	.;.	.;.	5.017279	0.83359	28.0	0.98568970174130621	0.43076	0.99518	0.96986	D	AEBI	0.880948	0.80796	D	0.247946109041749	0.53537	3.522182	0.405424374172973	0.61901	4.397013	0.999999626134381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.004000	0.88060	7.889000	0.72943	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.388	0.74437	861	0.33516	Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1051.33	33	chr12	25225763	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=694;ExcessHet=0;FS=3.141;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.247;SOR=0.385	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	18	0	1	0
chr12	26122310	26122318	GCGGCTGCC	-	exonic	BHLHE41	.	nonframeshift deletion	BHLHE41:NM_030762:exon5:c.1197_1205del:p.A409_A411del	.	339	1176	5	0	2	7	0.00212134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917726348	0.0004	0.0004	0.0004	0.0005	0.0042	0.0004	0.0004	0.0023	0.0020	0.0009	0.0003	0	0.0003	0.0012	0.0042	0.0004	0.0007	0.0028	0.0006	0.0006	0.0004	0.0008	0.0039	0.0005	0.0005	0.0025	0.0021	0.0005	0	6.727e-05	0	0.0002	0.0018	0	0.0004	0.0015	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	403.31	12	chr12	26122309	.	GGCGGCTGCC	G	403.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=360;ExcessHet=0;FS=10.02;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=1.51;SOR=1.681	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	18	0	1	0
chr12	26602630	26602630	C	T	exonic	ITPR2	.	nonsynonymous SNV	ITPR2:NM_002223:exon27:c.G3539A:p.R1180Q	.	443	1063	16	0	0	16	0.00746965	.	.	.	725055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.218	.	0.0057	0.00279553	0.0044	0.0013	0.0025	0	0.0005	0.0062	0.0056	0.0039	0.0044566	689	154602	rs35862420	0.0060	0.0061	0.0059	0.0062	0.0073	0.0059	0.0059	0.0069	0.0068	0.0012	0.0041	0.0030	0.0001	0.0003	0.0073	0.0070	0.0047	0.0043	0.0054	0.0054	0.0060	0.0048	0.0079	0.0051	0.0050	0.0074	0.0072	0.0013	0.0899	0.0062	0.0043	0.0002	0.0002	0.0272	0.0079	0.0057	0.0033	0.551	0.06564	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.063747	0.22002	N	0.498399	0.609463	0.32608	D	0.345	0.11182	N	-2.41	0.88533	D	-1.58	0.38151	N	0.176	0.18920	-0.5768	0.65744	T	0.353	0.71650	T	10	0.006019622	0.00135	T	.	.	.	0.218	0.51265	.	.	0.685097662135	0.68241	0.07574022133302347	0.07510	0.253854614516	0.27951	0.264534235001	0.05443	T	0.350104	0.71787	T	-0.371356	0.03526	T	-0.301077	0.44612	T	0.0133498682260292	0.00241	T	0.947805	0.79866	D	0.07195346	0.15970	0.04891079	0.07364	0.07195346	0.15969	0.04891079	0.07364	-3.458	0.15849	T	.	.	0.067	0.02342	B	.	.	3.898775	0.56773	23.8	0.93916534581051647	0.23955	0.75825	0.37146	D	AEFBI	0.147439	0.27111	N	-0.246391743540757	0.31247	1.750234	-0.0704487662434825	0.36618	2.133331	0.456182915423413	0.20584	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.83	3.94	0.44807	1.717000	0.37612	2.096000	0.30576	0.580000	0.29708	0.982000	0.35529	0.219000	0.23700	0.951000	0.49849	0.0:0.8315:0.0:0.1685	7.909	0.28941	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.020408	0.005435	0.008772	0.000000	0.008621	0.009146	0.000000	0.02632	773.33	33	chr12	26602630	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.54;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.95;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	26924476	26924476	G	A	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon7:c.C683T:p.P228L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	.	0.00539137	0.0017	0	0.0003	0	0	6.002e-05	0	0.0118	0.0015653	242	154602	rs141454244	0.0008	0.0008	0.0005	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	0.0001	0.0003	3.88e-05	0	1.889e-05	0.0003	5.974e-05	0.0009	0.0116	0.0006	0.0006	0.0003	0.0009	0.0170	0.0005	0.0005	0.0140	0.0129	0	0	0.0002	0	0	0	0	7.353e-05	0	0.0170	0.003	0.68238	D	0.005	0.72224	D	0.002	0.09854	B	0.005	0.11217	B	0.000270	0.46590	N	0.227351	1	0.81001	D	.	.	.	0.66	0.52416	T	-5.25	0.84035	D	0.461	0.49783	-0.9620	0.38800	T	0.093	0.35390	T	10	0.009493709	0.00214	T	.	.	.	0.365	0.68495	.	.	0.358880540497	0.35496	0.47108611570428666	0.47027	0.845994449431	0.68302	0.764332532883	0.76575	T	0.239261	0.60734	T	-0.199083	0.20936	T	-0.04935	0.67067	D	0.0951708162838193	0.11817	T	0.90321	0.66112	D	0.43772653	0.63255	0.38329202	0.63296	0.43772653	0.63256	0.38329202	0.63296	-5.973	0.46053	T	.	.	0.127	0.26886	B	.	.	4.886625	0.80198	27.3	0.99556650337924624	0.71521	0.97670	0.76297	D	AEFBI	0.608182	0.59786	D	0.08144624592982	0.45598	2.813647	0.232288660707174	0.51649	3.345508	0.999940533145374	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	4.75	0.59954	7.127000	0.76822	9.972000	0.82868	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0708:0.0:0.7884:0.1408	9.642	0.39011	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	603.33	33	chr12	26924476	.	G	A	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=659;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.511;SOR=0.243	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr12	26936607	26936607	A	G	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon2:c.T197C:p.M66T	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0048	0.00638978	0.0074	0.0015	0.0037	0.0032	0.0111	0.0080	0.0077	0.0118	0.0069663	1077	154602	rs2306852	0.0066	0.0066	0.0064	0.0068	0.0116	0.0065	0.0064	0.0110	0.0107	0.0010	0.0033	0.0082	0.0059	0.0129	0.0033	0.0062	0.0058	0.0116	0.0051	0.0051	0.0045	0.0058	0.0166	0.0048	0.0047	0.0136	0.0126	0.0009	0	0.0023	0.0086	0.0039	0.0135	0	0.0062	0.0052	0.0166	0.014	0.54683	D	0.019	0.59159	D	0.369	0.34063	B	0.171	0.35348	B	0.000000	0.84330	D	0.053007	0.999999	0.81001	D	.	.	.	0.95	0.43279	T	-1.24	0.37955	N	0.635	0.64818	-1.0319	0.19841	T	0.063	0.26065	T	10	0.009756386	0.00219	T	.	.	.	0.258	0.56959	.	.	0.043077524339	0.03247	0.7537742756139795	0.75324	0.944164394163	0.72342	0.850435853004	0.89680	D	0.048665	0.28085	T	-0.278995	0.10773	T	-0.163145	0.58067	T	0.0220620341904398	0.00916	T	0.962604	0.86052	D	0.5809308	0.71659	0.33843145	0.59621	0.5809308	0.71660	0.33843145	0.59620	-2.34	0.04779	T	.	.	0.59	0.68466	P	.;.;.	.;.;.	3.894487	0.56683	23.8	0.98439092490391211	0.41486	0.93029	0.57147	D	AEFBCI	0.927638	0.91061	D	0.224913191330774	0.52410	3.415227	0.382767712630281	0.60504	4.238553	0.999999999994909	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	5.27	5.27	0.73797	8.865000	0.91904	11.156000	0.87498	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.502	0.75439	832	0.38914	.;.;.	.	.	.	.	rs2306852	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.000000	0.002924	0.000000	0.017241	0.027439	0.007576	0.02632	782.33	34	chr12	26936607	.	A	G	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.986;SOR=0.846	GT:AD:DP:GQ:PL	0/1:21,33:54:99:796,0,474	18	0	1	0
chr12	27370167	27370167	C	T	exonic	ARNTL2	.	nonsynonymous SNV	ARNTL2:NM_001248002:exon3:c.C221T:p.S74F,ARNTL2:NM_020183:exon3:c.C221T:p.S74F	.	425	1085	12	0	0	12	0.00549954	.	.	.	4020755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0011	0.00419329	0.0020	0.0002	0.0010	0	0	0.0011	0	0.0093	0.0019405	300	154602	rs71541524	0.0016	0.0016	0.0013	0.0018	0.0096	0.0015	0.0015	0.0090	0.0088	0.0001	0.0006	0.0067	0	1.873e-05	0.0028	0.0010	0.0019	0.0096	0.0012	0.0012	0.0012	0.0012	0.0102	0.0011	0.0010	0.0079	0.0071	7.216e-05	0	0.0008	0.0095	0	0	0	0.0012	0.0019	0.0102	0.038	0.43708	D	0.045	0.49390	D	0.799	0.44910	P	0.281	0.40336	B	0.014137	0.01382	N	3.039860	0.99998	0.54805	D	1.39	0.34934	L	3.3	0.06368	T	-1.6	0.38540	N	0.235	0.28264	-0.9620	0.38800	T	0.017	0.06950	T	10	0.004114896	0.00081	T	.	.	.	0.050	0.13987	.	.	0.258283824007	0.25425	0.3896110847793631	0.38876	0.28713633429	0.31114	0.546271383762	0.45331	T	0.005427	0.04881	T	-0.555743	0.00269	T	-0.563813	0.16020	T	0.00965001284405309	0.00126	T	0.80392	0.45144	T	0.10180157	0.24048	0.12902507	0.31031	0.10180157	0.24048	0.12902507	0.31031	-4.357	0.31344	T	.	.	0.146	0.33086	B	.;.	.;.	3.228127	0.44012	21.8	0.98849133460354754	0.47271	0.23389	0.22060	N	AEFBI	0.042962	0.06730	N	-0.375705448312961	0.26338	1.436637	-0.368626054417469	0.25938	1.429556	0.00474915335458683	0.10696	0.566229	0.32551	0	0.615513	0.52658	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.13	3.13	0.35090	2.103000	0.41430	1.697000	0.28107	0.529000	0.24592	0.221000	0.24547	0.492000	0.25158	0.997000	0.79791	0.0:1.0:0.0:0.0	10.013	0.41171	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.015152	0.05263	3504.81	34	chr12	27370167	.	C	T	3504.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.74;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	1	0	0
chr12	27380272	27380272	C	G	exonic	ARNTL2	.	nonsynonymous SNV	ARNTL2:NM_001248003:exon3:c.C241G:p.R81G,ARNTL2:NM_001248004:exon3:c.C208G:p.R70G,ARNTL2:NM_001248005:exon3:c.C241G:p.R81G,ARNTL2:NM_001248002:exon4:c.C310G:p.R104G,ARNTL2:NM_020183:exon5:c.C352G:p.R118G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.160482007439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.84481	D	0.000317	0.45977	D	0.088650	0.999784	0.50225	D	4.175	0.97701	H	-4.9	0.98333	D	-6.3	0.90771	D	0.818	0.84090	0.135	0.84801	D	0.533	0.82699	D	10	0.8773408	0.87030	D	0.160482	0.84047	D	0.796	0.93306	0.723	0.85761	0.969305030499	0.96897	0.6702769958201881	0.66965	0.609965696646	0.55699	0.807231545448	0.83067	D	0.784612	0.94345	D	0.340183	0.85844	D	0.250873	0.85658	D	0.996184527873993	0.88832	D	0.989838	0.97571	D	0.8810728	0.89755	0.8198246	0.89527	0.8810728	0.89756	0.8198246	0.89528	-11.937	0.84542	D	.	.	0.86	0.80310	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.025977	0.59491	24.1	0.99806750195997374	0.89085	0.67088	0.33306	D	AEFBI	0.356944	0.44815	N	0.151247285397562	0.48873	3.09409	0.051990828183271	0.42167	2.545896	2.71438730457273E-4	0.06300	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.33	2.39	0.28492	-0.048000	0.11898	2.687000	0.34060	0.575000	0.29119	0.912000	0.31733	1.000000	0.68203	0.995000	0.73285	0.4551:0.5449:0.0:0.0	10.233	0.42441	780	0.47616	.;.;.;.;.;Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr12	27380272	.	C	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.441;DP=767;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.417;SOR=0.843	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	268.86	33	chr12	29311098	.	C	T	268.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.443;DP=1160;ExcessHet=0.119;FS=96.088;InbreedingCoeff=-0.0567;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.38;SOR=8.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:105,14:119:65:0|1:29311098_C_T:0,65,3855:29311098	17	0	2	0
chr12	29477164	29477164	-	TC	exonic	OVCH1	.	frameshift insertion	OVCH1:NM_001353179:exon12:c.1419_1420insGA:p.L474Dfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.35e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs754832261	6.843e-06	6.84e-06	2.723e-06	1.1e-05	9.278e-05	3.46e-06	2.52e-06	4.58e-05	3.273e-05	0	0	0	0	0	0	8.995e-07	1.657e-05	9.278e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1677.29	37	chr12	29477164	.	A	ATC	1677.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=823;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.652;SOR=0.783	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.013587	0.035088	0.000000	0.008621	0.003049	0.000000	0.02632	1931.33	35	chr12	29495332	.	A	G	1931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=830;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-0.962;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	18	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	627.64	176	chr12	31091731	.	C	T	627.64	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.086;DP=1857;ExcessHet=2.0135;FS=0.796;InbreedingCoeff=-0.1813;MLEAC=6;MLEAF=0.158;MQ=48.18;MQRankSum=-5.69;QD=0.75;ReadPosRankSum=-2.434;SOR=0.58	GT:AD:DP:GQ:PL	0/1:86,24:110:99:273,0,2658	13	0	6	0
chr12	31091767	31091767	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.G1138A:p.A380T,DDX11:NM_001257145:exon10:c.G1060A:p.A354T,DDX11:NM_004399:exon10:c.G1138A:p.A380T,DDX11:NM_030653:exon10:c.G1138A:p.A380T,DDX11:NM_152438:exon10:c.G1138A:p.A380T	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.0701062670989	.	0.000599042	8.482e-05	0	0	0.0012	0	0	0	0	8.41e-05	13	154602	rs192257386	3.079e-05	3.078e-05	3.949e-05	2.201e-05	0.0010	2.348e-05	2.095e-05	0.0007	0.0006	0	0	0	0.0010	0	0	5.397e-06	1.656e-05	0	4.594e-05	4.593e-05	3.853e-05	5.369e-05	0.0014	2.107e-05	1.525e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0	0.005	0.65419	D	0.095	0.41405	T	0.999	0.90584	D	0.977	0.83170	D	0.000163	0.48594	D	0.179711	1	0.81001	D	.	.	.	-0.53	0.71307	T	-2.51	0.56630	D	0.741	0.75650	-0.1509	0.78894	T	0.440	0.77859	T	10	0.29578292	0.47146	T	0.070106	0.70912	D	0.451	0.75143	.	.	0.78629844457	0.78432	0.48790238033156963	0.48710	.	.	0.582599639893	0.50451	T	0.34517	0.71359	T	-0.225186	0.17291	T	-0.152588	0.59013	T	0.293244172465064	0.24725	T	0.952805	0.82030	D	0.14240049	0.32773	0.2054365	0.44712	0.14240049	0.32772	0.2054365	0.44711	-7.938	0.61744	D	.	.	0.151	0.41402	B	.;.;.;.	.;.;.;.	4.255030	0.64624	24.7	0.99832791781545138	0.91456	0.97883	0.77847	D	AEFDBI	0.672076	0.63860	D	0.370267100002267	0.59818	4.164425	0.223253512988771	0.51139	3.299197	0.987997503511257	0.31392	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	9.078000	0.93430	8.317000	0.76957	0.553000	0.28181	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0:0.0:1.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1435.33	179	chr12	31091767	.	G	A	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=2026;ExcessHet=0;FS=5.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.9;MQRankSum=2.69;QD=7.36;ReadPosRankSum=0.044;SOR=1.131	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	18	0	1	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	908.33	40	chr12	31500446	.	G	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=682;ExcessHet=0;FS=2.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.17;QD=14.65;ReadPosRankSum=0.753;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr12	31662268	31662268	G	A	splicing	ETFBKMT	NM_001135864:exon2:c.314+1G>A;NM_173802:exon2:c.314+1G>A;NM_001135863:exon2:c.314+1G>A	.	.	.	430	1076	16	0	0	16	0.00738007	1.0000	0.938	.	2806838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00299521	0.0039	0.0006	0.0042	0	0.0109	0.0040	0.0056	0.0041	0.0037645	582	154602	rs138229541	0.0046	0.0046	0.0045	0.0046	0.0118	0.0045	0.0044	0.0096	0.0087	0.0009	0.0051	0.0009	0	0.0090	0.0118	0.0047	0.0042	0.0042	0.0039	0.0039	0.0038	0.0040	0.0058	0.0036	0.0035	0.0048	0.0044	0.0010	0	0.0058	0.0003	0	0.0102	0.0170	0.0047	0.0071	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0376589	0.56737	T	0.285323	0.87407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.462280	0.91180	32	0.99512601099398945	0.68739	0.98234	0.80784	D	AEFDBHI	.	.	.	1.06525046212874	0.97435	16.12388	0.866655777243244	0.93950	12.396	0.999999999999974	0.74766	0.093781	0.02453	0	0.089529	0.02469	0	0.060301	0.00762	0	0.089874	0.02613	0	0.984515	0.91773	4.4	4.4	0.52402	9.020000	0.93181	9.487000	0.80890	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:1.0:0.0	17.168	0.86700	911	0.21964	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3032.83	35	chr12	31662268	.	G	A	3032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.967;DP=903;ExcessHet=0.119;FS=0.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.142;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1434	17	0	2	0
chr12	32305795	32305795	T	G	exonic	BICD1	.	nonsynonymous SNV	BICD1:NM_001003398:exon4:c.T678G:p.I226M,BICD1:NM_001354186:exon4:c.T678G:p.I226M,BICD1:NM_001354187:exon4:c.T678G:p.I226M,BICD1:NM_001354188:exon4:c.T678G:p.I226M,BICD1:NM_001354189:exon4:c.T678G:p.I226M,BICD1:NM_001363603:exon4:c.T678G:p.I226M,BICD1:NM_001714:exon4:c.T678G:p.I226M	.	416	1104	1	1	0	3	0.00135685	.	.	.	3294433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.451	0.044986955906	.	.	3.301e-05	0	8.661e-05	0	0	3.003e-05	0	6.058e-05	3.23e-05	5	154602	rs202126519	3.42e-05	3.42e-05	2.722e-05	4.125e-05	0.0007	2.631e-05	2.375e-05	0.0002	0.0001	2.987e-05	6.708e-05	0	0	0	0.0007	2.248e-05	9.934e-05	0.0001	6.57e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.008	0.74150	D	0.983	0.60381	D	0.844	0.60373	P	0.000047	0.53742	D	0.122857	0.994113	0.42166	D	2.695	0.78878	M	0.04	0.62051	T	-2.67	0.57110	D	0.844	0.84817	-0.4294	0.71087	T	0.338	0.70412	T	10	0.70626795	0.72758	D	0.044987	0.61759	D	0.451	0.75143	0.59	0.71874	0.575446509224	0.57213	.	.	1.2539861705	0.81870	0.710658311844	0.68688	T	0.739795	0.92784	D	-0.020465	0.48787	T	0.00712668	0.70797	D	0.626517832279205	0.37474	D	0.939306	0.77145	D	0.23583002	0.46425	0.25492874	0.51166	0.23583002	0.46425	0.25492874	0.51165	-9.415	0.70542	D	.	.	0.242	0.48736	B	.;.	.;.	2.013506	0.25586	16.82	0.99454018213900564	0.65427	0.57999	0.30524	D	AEFDGBCI	0.202564	0.32915	N	-0.0810129916744092	0.38226	2.235583	-0.236053944084016	0.30255	1.701897	0.958214882132625	0.28349	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.33	-1.97	0.07091	-0.309000	0.08185	-1.726000	0.04840	-0.206000	0.08541	0.399000	0.26162	0.000000	0.08366	0.976000	0.56436	0.0:0.1971:0.0:0.8029	11.332	0.48721	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	33	chr12	32305795	.	T	G	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=698;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.267;SOR=0.495	GT:AD:DP:GQ:PL	0/1:39,34:73:99:974,0,1145	18	0	1	0
chr12	32337660	32337660	G	A	exonic	BICD1	.	nonsynonymous SNV	BICD1:NM_001003398:exon7:c.G2414A:p.R805Q,BICD1:NM_001354186:exon7:c.G2414A:p.R805Q,BICD1:NM_001354187:exon7:c.G2414A:p.R805Q,BICD1:NM_001354188:exon7:c.G2414A:p.R805Q,BICD1:NM_001363603:exon7:c.G2414A:p.R805Q,BICD1:NM_001714:exon7:c.G2414A:p.R805Q	.	.	.	.	.	.	.	.	.	.	.	3636645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00524244404567	7.7e-05	.	2.472e-05	0.0002	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs367674204	2.736e-06	2.736e-06	4.084e-06	1.375e-06	5.974e-05	6.4e-07	4.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	8.993e-07	0	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	6.55e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.94e-05	0	0	0.022	0.52492	D	0.083	0.41405	T	0.964	0.55854	D	0.248	0.38946	B	0.000184	0.48115	D	0.089128	0.690389	0.33321	D	0	0.06538	N	0.87	0.47815	T	-1.38	0.37178	N	0.379	0.42050	-1.0436	0.16236	T	0.067	0.27606	T	10	0.1684492	0.31397	T	0.005242	0.13371	T	0.156	0.40720	.	.	0.532842626647	0.52932	.	.	0.734144264085	0.62878	0.469382792711	0.34595	T	0.070806	0.34050	T	-0.220109	0.17978	T	-0.317279	0.42874	T	0.334446452626872	0.26403	T	0.947905	0.79907	D	0.257315	0.48775	0.13459785	0.32248	0.257315	0.48775	0.13459785	0.32247	-5.447	0.50116	T	.	.	0.107	0.22825	B	.;.	.;.	4.805036	0.78109	26.8	0.99914224565701548	0.98309	0.92233	0.55243	D	AEFDBI	0.431801	0.49394	N	0.166239249764029	0.49583	3.157115	0.292958335653429	0.55128	3.676129	0.988863275609977	0.31652	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	5.647000	0.67597	11.683000	0.94248	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.753	0.88349	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2986.33	33	chr12	32337660	.	G	A	2986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=913;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.505;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	18	0	1	0
chr12	32625729	32625729	C	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001370297:exon12:c.C1159A:p.P387T,FGD4:NM_001330373:exon13:c.C1432A:p.P478T,FGD4:NM_001330374:exon13:c.C1432A:p.P478T,FGD4:NM_001384130:exon13:c.C1432A:p.P478T,FGD4:NM_001304480:exon14:c.C2047A:p.P683T,FGD4:NM_001304481:exon14:c.C1966A:p.P656T,FGD4:NM_001370298:exon14:c.C2122A:p.P708T,FGD4:NM_001384126:exon14:c.C2122A:p.P708T,FGD4:NM_001384127:exon14:c.C1711A:p.P571T,FGD4:NM_001384128:exon14:c.C1711A:p.P571T,FGD4:NM_001385118:exon14:c.C1711A:p.P571T,FGD4:NM_139241:exon14:c.C1711A:p.P571T,FGD4:NM_001304483:exon15:c.C967A:p.P323T,FGD4:NM_001304484:exon15:c.C679A:p.P227T	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	1	1511	8	2	0	12	0.00395517	.	.	.	186164	FGD4-related_disorder|not_specified|not_provided|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease_type_4H	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.014035912536	0.0041	0.00139776	0.0040	0.0012	0.0020	0	0.0027	0.0062	0.0033	0.0009	0.0040232	622	154602	rs144693221	0.0051	0.0051	0.0052	0.0050	0.0062	0.0050	0.0050	0.0061	0.0060	0.0010	0.0014	0.0015	7.559e-05	0.0028	0.0042	0.0062	0.0034	0.0008	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0014	0	0.0012	0.0026	0	0.0016	0	0.0046	0.0033	0.0004	0.283	0.15354	T	0.345	0.18959	T	0.003	0.20732	B	0.043	0.28327	B	0.104671	0.19692	N	0.428769	1	0.08975	N	1.34	0.33385	L	-0.59	0.71543	T	-4.03	0.77143	D	0.252	0.35514	-0.8085	0.54641	T	0.164	0.50144	T	10	0.009981662	0.00224	T	0.014036	0.33885	T	0.122	0.33800	.	.	0.567207890759	0.56385	0.4643983229854567	0.46358	0.444578749256	0.44359	0.470297664404	0.34721	T	0.022505	0.23758	T	-0.48497	0.00693	T	-0.466095	0.25938	T	0.0350589171078559	0.02819	T	0.90391	0.66280	D	0.12080793	0.28419	0.16740566	0.38623	0.14093754	0.32495	0.2012028	0.44088	-8.614	0.65182	D	.	.	0.071	0.09530	B	.;.;.;.;.	.;.;.;.;.	-0.532723	0.01765	0.134	0.66456374004148955	0.08064	0.12910	0.17553	N	AEFBI	0.135435	0.25577	N	-1.46966013452416	0.02067	0.09087791	-1.60739703899217	0.01611	0.0730821	0.999650402584824	0.41424	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	-10.6	0.00212	-1.376000	0.02667	-4.630000	0.02060	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.0:0.6863:0.0978:0.2159	15.920	0.79339	906	0.23090	FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger;FYVE zinc finger|Zinc finger, FYVE-related|FYVE zinc finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1244.33	46	chr12	32625729	.	C	A	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=844;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.347;SOR=1.108	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr12	32755145	32755145	C	T	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G730A:p.G244R	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.967	0.359161516086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345057239	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.65	0.99371	H	-3.72	0.95422	D	-7.36	0.94647	D	0.99	0.99725	1.088	0.99146	D	0.953	0.98456	D	10	0.99277556	0.99812	D	0.359162	0.92467	D	0.967	0.99571	0.983	0.99835	0.87456900688	0.87334	0.9596182592128978	0.95947	1.49302492565	0.86914	0.739516615868	0.72902	T	0.698693	0.91304	D	0.493166	0.94088	D	0.567477	0.96189	D	0.999752819538116	0.98831	D	0.971103	0.89589	D	0.97762394	0.98923	0.9908132	0.99984	0.97762394	0.98923	0.9908132	0.99984	-12.995	0.89343	D	0.8919925867649886	0.94634	0.926	0.84680	P	.	.	5.497151	0.91543	32	0.99912758973917637	0.98167	0.60995	0.31356	D	ALL	0.888545	0.82176	D	0.84934341144086	0.89071	9.82318	0.704580888815871	0.82727	7.839096	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.86	4.97	0.65419	7.635000	0.82446	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9279:0.0:0.0721	13.462	0.60683	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2864.33	33	chr12	32755145	.	C	T	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=823;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.38;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr12	32878416	32878416	C	G	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon3:c.G464C:p.S155T,PKP2:NM_004572:exon3:c.G464C:p.S155T	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	54246	Primary_familial_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|not_specified	MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.259	0.394674920223	7.7e-05	.	3.299e-05	0	0.0002	0	0	3.001e-05	0	0	2.59e-05	4	154602	rs141438322	5.062e-05	5.062e-05	3.948e-05	6.188e-05	0.0021	4.125e-05	3.778e-05	0.0012	0.0009	2.987e-05	6.708e-05	0	0	0	0.0021	4.047e-05	0.0001	5.797e-05	3.286e-05	3.284e-05	3.854e-05	2.691e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.88e-05	0	0	0.024	0.53172	D	0.288	0.26714	T	0.952	0.54136	P	0.6	0.50752	P	0.086079	0.20607	N	0.486374	0.612199	0.30851	N	2.175	0.60977	M	-1.57	0.81900	D	-1.18	0.30140	N	0.383	0.42443	0.125	0.84616	D	0.556	0.83780	D	10	0.27837878	0.45407	T	0.394675	0.93265	D	0.259	0.57090	.	.	0.856265283402	0.85488	0.5083121000048116	0.50753	0.485800927683	0.47462	0.438046455383	0.30310	T	0.204999	0.56394	T	-0.121879	0.32816	T	-0.215876	0.53133	T	0.127116584558858	0.15112	T	0.693131	0.30283	T	0.15544437	0.35131	0.13602787	0.32553	0.15544437	0.35131	0.13602787	0.32552	-5.755	0.44180	T	0.2997177093397476	0.39700	0.122	0.25298	B	.;.	.;.	2.842582	0.37510	20.5	0.99465552659774736	0.66049	0.94958	0.62924	D	AEFDGBI	0.629291	0.61106	D	0.363809009884692	0.59474	4.126952	0.3919860945261	0.61070	4.302132	0.999999978609629	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.52	5.52	0.82153	3.014000	0.49278	7.534000	0.59965	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:1.0:0.0:0.0	17.263	0.86963	667	0.61242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	132	chr12	32878416	.	C	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.73;SOR=0.695	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	39650324	39650324	G	A	exonic	C12orf40	.	nonsynonymous SNV	C12orf40:NM_001031748:exon7:c.G656A:p.R219Q,C12orf40:NM_001319247:exon7:c.G656A:p.R219Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00354099606835	0.0003	.	0.0002	0	0.0004	0	0	0.0004	0	6.361e-05	0.0002264	35	154602	rs200733049	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	3e-05	0.0002	0	0	1.875e-05	0.0007	0.0002	0.0002	1.165e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.421e-05	0	6.575e-05	0	0	0	0	0.0004	0	0	1.0	0.00964	T	0.834	0.03674	T	0.0	0.02946	B	0.0	0.01387	B	0.388006	0.13296	N	0.619559	1	0.08975	N	-0.35	0.03145	N	0.94	0.43672	T	1.34	0.00900	N	0.065	0.03726	-1.0110	0.26604	T	0.034	0.14596	T	10	0.019990593	0.00454	T	0.003541	0.08062	T	0.012	0.01476	.	.	0.0611884634855	0.05136	0.01546020332161207	0.01502	0.0176890567249	0.01721	.	.	.	2.42E-4	0.00052	T	-0.603635	0.00139	T	-0.759918	0.03115	T	0.0240507976092609	0.01152	T	0.431557	0.11736	T	0.0217631	0.00797	0.029846579	0.01368	0.0217631	0.00797	0.029846579	0.01368	-3.177	0.12202	T	.	.	0.064	0.01715	B	.;.	.;.	0.052640	0.04656	1.310	0.23164937465904289	0.00967	0.00113	0.00716	N	AEFI	0.013967	0.00205	N	-1.76007597784149	0.00650	0.0280592	-1.73989617102066	0.00972	0.04353702	1.95085298612087E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.53	-0.953	0.09834	0.381000	0.20348	0.933000	0.22794	-1.474000	0.01067	0.017000	0.19353	0.000000	0.08366	0.545000	0.30055	0.4804:0.1919:0.3277:0.0	3.925	0.08760	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1226.81	33	chr12	39650324	.	G	A	1226.81	.	AC=2;AF=0.053;AN=38;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=25.56;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1019	18	1	0	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,21:67:99:.:.:159,0,516:.	2	0	16	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	447.66	61	chr12	39764778	.	G	A	447.66	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.948;DP=1036;ExcessHet=0.7564;FS=304.398;InbreedingCoeff=-0.1414;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.14;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:68:.:.:0,68,1123:.	14	0	4	1
chr12	40328429	40328429	A	G	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon39:c.A5726G:p.N1909S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0903924927806	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200182753	6.845e-07	6.84e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.18562	T	0.009	0.66756	D	0.242	0.30930	B	0.16	0.34752	B	0.000000	0.84330	D	0.084929	0.999951	0.52396	D	0.825	0.20901	L	-3.17	0.93054	D	-1.49	0.36385	N	0.765	0.76296	0.310	0.87717	D	0.700	0.89664	D	10	0.61738837	0.67783	D	0.090392	0.75509	D	0.436	0.74093	0.462	0.53079	0.952707185244	0.95221	0.515939517947142	0.51516	1.45932965126	0.86315	0.555420517921	0.46621	T	0.128852	0.45676	T	0.0440929	0.57579	T	-0.17444	0.57035	T	0.955271303653717	0.64467	D	0.910509	0.68253	D	0.29308987	0.52279	0.1880252	0.42068	0.29308987	0.52278	0.1880252	0.42067	-4.778	0.34333	T	0.5676221135665342	0.63498	0.119	0.24599	B	.	.	2.960448	0.39422	21.0	0.99839569862030675	0.92057	0.98533	0.83799	D	AEI	0.908374	0.86362	D	0.120495906097537	0.47420	2.967933	0.273463118905185	0.53993	3.565954	0.999358126494588	0.39259	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	7.776000	0.84252	9.178000	0.79066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.973	0.70901	788	0.46569	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2575.33	34	chr12	40328429	.	A	G	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=838;ExcessHet=0;FS=0.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.09;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	18	0	1	0
chr12	40408326	40408326	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1059	31	2	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0135	0.0053	0.0109	0	0	0.0030	0.0169	0.0177	0.0020375	315	154602	rs370137485	0.0062	0.0049	0.0057	0.0067	0.0196	0.0061	0.0060	0.0187	0.0184	0.0009	0.0024	0.0034	7.934e-05	0.0020	0.0078	0.0056	0.0058	0.0196	0.0043	0.0044	0.0046	0.0041	0.0166	0.0041	0.0040	0.0137	0.0126	0.0014	0.0658	0.0027	0.0035	0	0.0008	0.0136	0.0057	0.0038	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	998.33	33	chr12	40408326	.	C	T	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.112;DP=712;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.227;SOR=0.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr12	40416068	40416068	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs765159718	0.0004	0.0003	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	3.539e-05	6.283e-05	0	0.0004	0.0002	0.0005	0.0004	5.255e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	9.664e-05	0	0.0001	0	0	0.0007	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2059.33	34	chr12	40416068	.	G	A	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=998;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.699;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1334	18	0	1	0
chr12	40426604	40426604	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0004	0	0	0.0103	0	0	0	0.0003	0.0001552	24	154602	rs28365245	0.0001	0.0001	0.0002	0.0001	0.0097	0.0001	0.0001	0.0083	0.0078	0	0	0	0.0097	3.657e-05	0	2.932e-05	0.0003	9.187e-05	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0067	0.0059	0	0	0	0	0.0087	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1218.33	33	chr12	40426604	.	C	T	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=1.59;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530:.	18	0	1	0
chr12	40432454	40432454	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0029354004458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.007e-06	1.368e-06	1.942e-06	0	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	6.565e-06	6.561e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	504.33	34	chr12	40432454	.	A	T	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=631;ExcessHet=0;FS=5.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.32;SOR=1.863	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,989	18	0	1	0
chr12	40440574	40440574	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	450	193	446	429	4	1308	0.771598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0087	0	0	0	0.0003	4.53e-05	7	154602	rs10878592	0.0002	0.0002	0.0002	0.0002	0.0131	0.0002	0.0002	0.0115	0.0109	0	0	0.0001	0.0131	0	0.0002	2.177e-05	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0132	0.0004	0.0004	0.0107	0.0097	0	0	0	0.0003	0.0132	0	0	7.355e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	29295.2	84	chr12	40440574	.	C	T	29295.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.1;DP=1731;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=0.047;SOR=0.679	GT:AD:DP:GQ:PL	0/0:32,0:86:99:1380,1476,2467	18	0	1	0
chr12	40444545	40444545	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	.	.	0.000199681	0.0024	0	0.0042	0	0	0.0010	0.0055	0.0046	0.0002587	40	154602	rs202204973	0.0004	0.0003	0.0003	0.0005	0.0052	0.0004	0.0004	0.0036	0.0030	0	0.0005	0.0020	0	7.314e-05	0.0052	0.0001	0.0005	0.0033	0.0004	0.0004	0.0002	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	7.221e-05	0	0.0007	0.0026	0.0002	0	0	0.0002	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	38	chr12	40444545	.	C	T	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.658;SOR=0.879	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	40450267	40450267	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0174310637657	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs904639240	5.213e-05	4.31e-05	3.921e-05	6.556e-05	0.0005	4.121e-05	3.708e-05	8.045e-05	3.526e-05	0	3.554e-05	0	0	0	0.0005	5.107e-05	0.0001	5.259e-05	3.289e-05	3.284e-05	3.857e-05	2.694e-05	0.0002	1.262e-05	7.99e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.888e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	42	chr12	40450267	.	C	G	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.756;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.564;SOR=0.668	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	40460309	40460309	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	0.00179712	0.0065	0	0	0	0.0012	0.0130	0.015	0.0043	0.0013066	202	154602	rs191493043	0.0036	0.0029	0.0035	0.0038	0.0077	0.0035	0.0035	0.0057	0.0050	0.0006	0.0031	0.0293	7.812e-05	0.0006	0.0077	0.0033	0.0044	0.0041	0.0033	0.0033	0.0033	0.0033	0.0069	0.0030	0.0029	0.0050	0.0044	0.0004	0	0.0030	0.0311	0	0.0004	0.0102	0.0040	0.0052	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1919.33	33	chr12	40460309	.	G	A	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.384;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.746;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr12	40479632	40479632	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0348804618589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4e-06	4.104e-06	2.23e-06	2.599e-06	0.0001	4e-07	1.5e-07	2.107e-05	8.5e-06	0	0	0	0	0	0	0	0	0.0001	6.605e-06	6.579e-06	1.29e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10149.3	571	chr12	40479632	.	T	C	10149.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.39;DP=7909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.378;SOR=0.696	GT:AD:DP:GQ:PL	0/0:458,0:458:99:0,120,1800	18	0	1	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2585.75	1164	chr12	40483175	.	GAAC	G	2585.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=6.4;DP=14253;ExcessHet=0.3672;FS=6.847;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.67;MQRankSum=-16.38;QD=1;ReadPosRankSum=-9.998;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:793,0:793:99:.:.:0,120,1800:.	16	0	3	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1334.54	1338	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	1334.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=7.49;DP=14350;ExcessHet=0.119;FS=5.203;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.67;MQRankSum=-7.494;QD=0.84;ReadPosRankSum=-7.706;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:793,0:793:99:.:.:0,120,1800:.	16	0	2	1
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	25341.8	1018	chr12	40483220	.	T	A	25341.8	.	AC=2;AF=0.053;AN=38;DP=13577;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.93;QD=27.66;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:793,0:793:99:.:.:0,120,1800:.	18	1	0	0
chr12	40483459	40483459	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	543	972	7	0	0	7	0.0035879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0683513819399	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349026907	0	5.005e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0080	0.0005	0.0008	0.0035	0.0005	0.0005	0.0025	0.0021	0.0004	0	0.0035	0	0.0009	0.0013	0.0092	0.0002	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	475.71	1132	chr12	40483459	.	G	C	475.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.16;DP=14777;ExcessHet=0;FS=2.305;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.08;MQRankSum=-15.49;QD=1.42;ReadPosRankSum=2.56;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:767,0:767:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483465	40483465	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	971	7	0	0	7	0.00359159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0715477764836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231916172	7.232e-06	5.279e-05	2.24e-06	1.305e-05	7.908e-06	2.6e-06	1.71e-06	2.84e-06	1.87e-06	0	0	0	0	0	0	7.908e-06	0	0	0.0007	0.0079	0.0005	0.0010	0.0039	0.0006	0.0005	0.0028	0.0024	0.0005	0	0.0039	0	0.0009	0.0017	0.0096	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	479.71	1132	chr12	40483465	.	G	A	479.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=6.03;DP=14775;ExcessHet=0;FS=4.316;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.04;MQRankSum=-15.22;QD=1.43;ReadPosRankSum=1.08;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:767,0:767:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483476	40483476	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	544	971	7	0	0	7	0.00359159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268643527	1.205e-06	5.072e-05	0	2.609e-06	1.317e-06	0	0	.	.	0	0	0	0	0	0	1.317e-06	0	0	0.0008	0.0079	0.0006	0.0010	0.0040	0.0006	0.0006	0.0029	0.0025	0.0006	0.0017	0.0040	0	0.0009	0.0015	0.0048	0.0002	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	541.71	1132	chr12	40483476	.	A	G	541.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=9.09;DP=14931;ExcessHet=0;FS=4.371;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.69;MQRankSum=-15.15;QD=1.62;ReadPosRankSum=-2.183;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:767,0:767:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483482	40483482	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	542	973	7	0	0	7	0.00358423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466228860	0	5.14e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0071	0.0005	0.0008	0.0033	0.0005	0.0005	0.0023	0.0020	0.0004	0.0015	0.0033	0	0.0011	0.0015	0	0.0002	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	549.71	1132	chr12	40483482	.	A	G	549.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.531;DP=14935;ExcessHet=0;FS=4.374;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.59;MQRankSum=-15.1;QD=1.66;ReadPosRankSum=-3.85;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:767,0:767:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483507	40483507	T	-	exonic	MUC19	.	unknown	UNKNOWN	.	554	959	5	0	4	9	0.0026001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.233e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0008	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0008	0	0	0.0007	0	8.636e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	70.29	1205	chr12	40483506	.	AT	A	70.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.23;DP=15617;ExcessHet=0;FS=2.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.07;MQRankSum=-14.86;QD=0.21;ReadPosRankSum=-5.881;SOR=1.064	GT:AD:DP:GQ:PL	0/0:901,0:901:99:0,120,1800	18	0	1	0
chr12	40483548	40483548	-	CAAGGACAACTGGGCCATCGGCTGTG	exonic	MUC19	.	unknown	UNKNOWN	.	547	972	2	0	1	3	0.00102775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294871389	0	2.818e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-05	0.0005	4.239e-05	9.074e-05	0.0003	2.858e-05	1.948e-05	4.488e-05	1.862e-05	3.56e-05	0	0.0003	0	0	0.0003	0	2.539e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1821.29	1205	chr12	40483548	.	A	ACAAGGACAACTGGGCCATCGGCTGTG	1821.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.557;DP=15604;ExcessHet=0;FS=5.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-17.15;QD=4.66;ReadPosRankSum=-10.72;SOR=1.062	GT:AD:DP:GQ:PL	0/0:901,0:901:99:0,120,1800	18	0	1	0
chr12	40483556	40483556	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	550	701	240	30	1	301	0.176263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0586116955523	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2933357	1.2e-06	1.368e-06	0	2.599e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.666e-05	0	1.983e-05	9.211e-05	1.292e-05	2.708e-05	0.0001	5.27e-06	2.46e-06	2.271e-05	9.11e-06	0	0	0.0001	0	0	9.475e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	94365.2	1205	chr12	40483556	.	G	A	94365.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.105;DP=16450;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=0.007;QD=13.54;ReadPosRankSum=-0.441;SOR=0.719	GT:AD:DP:GQ:PL	0/0:500,0:957:99:11427,12927,27808	18	0	1	0
chr12	40483629	40483629	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	549	943	27	0	3	30	0.014114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.855e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.607e-05	0.0002	2.809e-05	4.451e-05	0.0002	1.355e-05	8.66e-06	6.176e-05	3.281e-05	0	0	0.0002	0	0	0.0001	0	1.606e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	627.33	1349	chr12	40483629	.	A	G	627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=14168;ExcessHet=0;FS=10.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.2;MQRankSum=-16.39;QD=1.79;ReadPosRankSum=1.36;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:662,0:662:99:.:.:0,120,1800:.	18	0	1	0
chr12	40483632	40483632	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	552	940	27	0	3	30	0.0141584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.061e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.33e-05	0.0002	2.809e-05	5.936e-05	0.0002	1.854e-05	1.22e-05	6.188e-05	3.284e-05	2.581e-05	0	0.0002	0	0	0.0001	0	1.606e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	621.71	1357	chr12	40483632	.	A	G	621.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.132;DP=14176;ExcessHet=0;FS=10.981;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.26;MQRankSum=-16.43;QD=1.66;ReadPosRankSum=0.865;SOR=1.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:662,0:662:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483637	40483637	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	563	934	22	0	3	25	0.0116402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131922827754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.826e-06	2.059e-05	6.724e-06	2.613e-06	5.277e-06	1.13e-06	7.6e-07	1.24e-06	8.3e-07	0	0	0	0	0	0	5.277e-06	0	0	3.554e-05	0.0002	2.764e-05	4.389e-05	0.0002	1.339e-05	8.55e-06	6.134e-05	3.269e-05	0	0	0.0002	0	0	0.0001	0	1.574e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	594.33	1328	chr12	40483637	.	G	A	594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.521;DP=14134;ExcessHet=0;FS=9.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.33;MQRankSum=-17.2;QD=1.64;ReadPosRankSum=-0.252;SOR=1.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:662,0:662:99:.:.:0,120,1800:.	18	0	1	0
chr12	40483638	40483638	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	572	923	22	0	5	27	0.0117773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs537314407	0.0003	0.0007	0.0003	0.0002	0.0121	0.0002	0.0002	0.0107	0.0102	0.0121	0	0	0	0	0	1.056e-05	0.0004	6.119e-05	0.0050	0.0088	0.0051	0.0050	0.0153	0.0047	0.0045	0.0142	0.0137	0.0153	0	0.0020	0	0	0.0002	0	4.734e-05	0.0031	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	602.71	1323	chr12	40483638	.	G	A	602.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.6;DP=14125;ExcessHet=0;FS=9.118;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.31;MQRankSum=-17.09;QD=1.79;ReadPosRankSum=-0.406;SOR=1.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:662,0:662:99:.:.:0,120,1800:.	17	0	1	1
chr12	40483656	40483656	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	553	948	19	0	2	21	0.00992167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319831132	6.013e-06	6.163e-06	1.117e-05	0	0.0002	1.76e-06	1.28e-06	8.255e-05	5.003e-05	0	0	0	0	0	0	0	3.67e-05	0.0002	3.263e-05	0.0002	3.145e-05	3.389e-05	0.0003	1.062e-05	6.14e-06	8.086e-05	4.28e-05	0	0	0.0003	0	0	0	0	1.798e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	522.33	889	chr12	40483656	.	A	G	522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=12861;ExcessHet=0;FS=5.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.41;MQRankSum=-18.16;QD=1.48;ReadPosRankSum=-3.496;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:662,0:662:99:.:.:0,120,1800:.	18	0	1	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	23549.6	889	chr12	40483902	.	C	T	23549.6	.	AC=2;AF=0.056;AN=36;DP=12692;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=2;MLEAF=0.056;MQ=59.92;QD=32.62;SOR=0.774	GT:AD:DP:GQ:PL	0/0:662,0:662:99:0,120,1800	17	1	0	1
chr12	40485829	40485829	-	GCTGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	967.29	1162	chr12	40485829	.	A	AGCTGG	967.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.904;DP=15818;ExcessHet=0;FS=2.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.24;MQRankSum=-26.58;QD=1.1;ReadPosRankSum=7.24;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:912,0:912:99:.:.:0,120,1800:.	18	0	1	0
chr12	40485831	40485831	-	TCTCAGCTGGGGTGACAGAGACAATTGGACTATCAGCTGGAGTGACAGGGACAATTGGATCATCAGCTGGGGTGACAGGTACAAA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1097.29	1162	chr12	40485831	.	C	CTCTCAGCTGGGGTGACAGAGACAATTGGACTATCAGCTGGAGTGACAGGGACAATTGGATCATCAGCTGGGGTGACAGGTACAAA	1097.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.753;DP=15830;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.1;MQRankSum=-26.74;QD=1.22;ReadPosRankSum=8.37;SOR=1.056	GT:AD:DP:GQ:PL	0/0:912,0:912:99:0,120,1800	18	0	1	0
chr12	40485867	40485867	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009985851	7.331e-06	1.995e-05	9.09e-06	5.285e-06	8.014e-06	2.64e-06	1.73e-06	2.88e-06	1.89e-06	0	0	0	0	0	0	8.014e-06	0	0	4.388e-05	0.0003	2.836e-05	6.04e-05	0.0002	1.165e-05	6.23e-06	.	.	4.577e-05	0	0.0002	0	0	0	0	3.403e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	392.04	1349	chr12	40485867	.	T	C	392.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.338;DP=17924;ExcessHet=0;FS=12.17;InbreedingCoeff=-0.0861;MLEAC=1;MLEAF=0.033;MQ=58.19;MQRankSum=-26.72;QD=0.47;ReadPosRankSum=-7.708;SOR=1.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1143,0:1143:99:.:.:0,120,1800:.	14	0	1	4
chr12	40485905	40485905	-	AAGTGACA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4375.29	1395	chr12	40485905	.	G	GAAGTGACA	4375.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=17662;ExcessHet=0;FS=12.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.73;MQRankSum=-29.72;QD=4.68;ReadPosRankSum=-1.94;SOR=1.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1102,0:1102:99:.:.:0,120,1800:.	18	0	1	0
chr12	40485908	40485908	-	ATAACTGGACTATCAGCTGTGC	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4695.29	1395	chr12	40485908	.	G	GATAACTGGACTATCAGCTGTGC	4695.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=17675;ExcessHet=0;FS=8.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.62;MQRankSum=-30.07;QD=4.96;ReadPosRankSum=1.95;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1102,0:1102:99:.:.:0,120,1800:.	18	0	1	0
chr12	40485914	40485914	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403712253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.542e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	4748.14	1388	chr12	40485914	.	G	A	4748.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.29;DP=17656;ExcessHet=0;FS=10.298;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=56.56;MQRankSum=-29.79;QD=5.11;ReadPosRankSum=10.47;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1102,0:1102:99:.:.:0,120,1800:.	16	0	1	2
chr12	40485920	40485920	-	CTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4710.29	1372	chr12	40485920	.	A	ACTGGG	4710.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=17049;ExcessHet=0;FS=8.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-30.26;QD=5;ReadPosRankSum=10.38;SOR=1.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1087,0:1087:99:.:.:0,120,1800:.	18	0	1	0
chr12	40485923	40485923	-	TCGGCTGTGGTGACAGAGACAACTG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	4751.42	1373	chr12	40485923	.	A	ATCGGCTGTGGTGACAGAGACAACTG	4751.42	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.09;DP=16957;ExcessHet=0;FS=10.123;InbreedingCoeff=-0.1586;MLEAC=2;MLEAF=0.091;MQ=56.61;MQRankSum=-30.1;QD=5.13;ReadPosRankSum=8.87;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1076,0:1076:0:.:.:0,0,28740:.	10	0	1	8
chr12	40485927	40485927	-	AACTGGGGTGACAAGAATAACTGGACT	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	4291.67	1155	chr12	40485927	.	C	CAACTGGGGTGACAAGAATAACTGGACT	4291.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.34;DP=14947;ExcessHet=0;FS=8.771;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.85;MQRankSum=-29.9;QD=4.7;ReadPosRankSum=-0.711;SOR=1.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:863,0:863:99:.:.:0,120,1800:.	17	0	1	1
chr12	40486036	40486036	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	190.71	1155	chr12	40486036	.	G	A	190.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.71;DP=14755;ExcessHet=0;FS=3.905;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.13;MQRankSum=-26.88;QD=0.25;ReadPosRankSum=-5.202;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:863,0:863:99:.:.:0,120,1800:.	17	0	1	1
chr12	40486037	40486037	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	26028	rs1358931139	2.41e-06	5.416e-05	0	5.218e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	6.208e-05	0.0006	4.548e-05	7.95e-05	0.0002	3.065e-05	2.225e-05	5.576e-05	3.643e-05	0.0001	0	0.0002	0	0	0	0	1.65e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	615.71	1155	chr12	40486037	.	G	A	615.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.62;DP=14763;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.04;MQRankSum=-27.09;QD=0.81;ReadPosRankSum=-5.453;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:863,0:863:99:.:.:0,120,1800:.	17	0	1	1
chr12	40486038	40486038	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.41e-06	7.541e-06	0	5.218e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	0	1.328e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	714.71	1155	chr12	40486038	.	C	T	714.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.246;DP=14760;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.03;MQRankSum=-27.05;QD=0.94;ReadPosRankSum=-5.737;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:863,0:863:99:.:.:0,120,1800:.	17	0	1	1
chr12	40486047	40486047	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216232266	6.025e-06	1.028e-05	6.717e-06	5.218e-06	0.0001	1.77e-06	1.28e-06	2.117e-05	8.53e-06	0	0	0	0	0	0	3.953e-06	0	0.0001	0	9.694e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2751.71	1155	chr12	40486047	.	C	T	2751.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.75;DP=14801;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.69;MQRankSum=-27.87;QD=3.43;ReadPosRankSum=-8.129;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:863,0:863:99:.:.:0,120,1800:.	17	0	1	1
chr12	40486050	40486050	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252673078	2.41e-06	5.416e-05	0	5.219e-06	0.0001	4e-07	1.5e-07	2.117e-05	8.54e-06	0	0	0	0	0	0	0	0	0.0001	0.0008	0.0044	0.0007	0.0009	0.0039	0.0006	0.0006	0.0021	0.0016	0.0009	0	0.0008	0	0.0039	0.0002	0.0088	0.0007	0.0008	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	3411.71	1155	chr12	40486050	.	T	C	3411.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=8.63;DP=14827;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.59;MQRankSum=-28.09;QD=4.15;ReadPosRankSum=-8.542;SOR=0.683	GT:AD:DP:GQ:PL	0/0:863,0:863:99:0,120,1800	17	0	1	1
chr12	40486078	40486078	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157285326	6.025e-06	0.0003	4.478e-06	7.829e-06	6.584e-06	1.77e-06	1.28e-06	1.93e-06	1.4e-06	0	0	0	0	0	0	6.584e-06	0	0	8.686e-05	0.0027	6.544e-05	0.0001	0.0002	5.137e-05	4.024e-05	5.337e-05	2.849e-05	7.547e-05	0	0.0002	0	0	9.477e-05	0	8.877e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6086.33	1134	chr12	40486078	.	A	G	6086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.87;DP=13889;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.61;MQRankSum=-27.87;QD=6.78;ReadPosRankSum=-1.745;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:794,0:794:99:.:.:0,120,1800:.	18	0	1	0
chr12	40486081	40486081	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	570	950	1	1	0	3	0.00157646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1410631239	2.41e-06	0.0003	0	5.218e-06	2.633e-06	4e-07	1.5e-07	4.4e-07	1.6e-07	0	0	0	0	0	0	2.633e-06	0	0	0.0001	0.0033	9.167e-05	0.0001	0.0002	6.62e-05	5.411e-05	5.348e-05	3.163e-05	0.0001	0	0.0002	0	0.0002	9.47e-05	0	8.885e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6443.33	1134	chr12	40486081	.	A	G	6443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.985;DP=13905;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.49;MQRankSum=-28.05;QD=7.05;ReadPosRankSum=-0.726;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:794,0:794:99:.:.:0,120,1800:.	18	0	1	0
chr12	40486113	40486135	CTAGGGTGACAGGGACAACTGTA	-	exonic	MUC19	.	unknown	UNKNOWN	.	541	978	2	1	0	4	0.00204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224179180	1.323e-05	0.0005	6.704e-06	2.083e-05	6.082e-05	7.1e-06	5.19e-06	6.64e-06	4.84e-06	0	0	0	0	0	0	1.314e-05	0	6.082e-05	0.0002	0.0091	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0003	0.0011	0.0003	0.0003	0	0.0002	0.0034	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4862.29	1333	chr12	40486112	.	GCTAGGGTGACAGGGACAACTGTA	G	4862.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=15453;ExcessHet=0;FS=2.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.94;MQRankSum=-29.04;QD=3.87;ReadPosRankSum=6.21;SOR=0.953	GT:AD:DP:GQ:PL	0/0:794,0:794:99:0,120,1800	18	0	1	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9441.75	1246	chr12	40486404	.	T	TATCA	9441.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=7.82;DP=18290;ExcessHet=0.3672;FS=54.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.38;MQRankSum=-29.47;QD=3.04;ReadPosRankSum=-9.184;SOR=5.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:999,0:999:99:.:.:0,120,1800:.	16	0	3	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10221.9	1299	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	10221.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.72;DP=19206;ExcessHet=0.3672;FS=49.592;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.5;MQ=57.31;MQRankSum=-29.22;QD=3.29;ReadPosRankSum=-14.88;SOR=4.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1022,0:1022:0:.:.:0,0,23116:.	3	0	3	13
chr12	40487194	40487194	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs77457259	2.408e-06	0.0002	0	5.212e-06	0.0010	4e-07	1.5e-07	.	.	0	0.0010	0	0	0	0	1.316e-06	0	0	7.225e-06	0.0012	0	1.487e-05	1.611e-05	0	0	.	.	0	0	0	0	0	0	0	1.611e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1226.33	1298	chr12	40487194	.	G	A	1226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.18;DP=19228;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.14;MQRankSum=-26.43;QD=1.14;ReadPosRankSum=-2.878;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:903,0:903:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3901.31	1334	chr12	40487346	.	A	T	3901.31	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.437;DP=19472;ExcessHet=0.7564;FS=26.86;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.67;MQRankSum=-23.42;QD=0.98;ReadPosRankSum=5.23;SOR=3.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:888,90:978:99:0|1:40487326_C_A:919,0,36919:40487326	14	0	4	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3993.93	1334	chr12	40487347	.	G	C	3993.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.22;DP=19442;ExcessHet=0.7564;FS=29.934;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.44;MQRankSum=-23.04;QD=1;ReadPosRankSum=7.14;SOR=3.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:884,90:974:99:0|1:40487326_C_A:931,0,36829:40487326	14	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5607.37	1334	chr12	40487354	.	G	A	5607.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.26;DP=19611;ExcessHet=1.3;FS=27.943;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.47;MQRankSum=-24.28;QD=0.97;ReadPosRankSum=8.34;SOR=3.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:899,90:989:99:0|1:40487326_C_A:888,0,37452:40487326	14	0	5	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	4909.93	1334	chr12	40487370	.	C	G	4909.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.03;DP=19470;ExcessHet=0.7564;FS=32.19;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.17;MQRankSum=-23.89;QD=1.22;ReadPosRankSum=8.49;SOR=3.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:882,88:970:99:.:.:513,0,36724:.	14	0	4	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	5614.93	1334	chr12	40487373	.	A	G	5614.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.24;DP=19460;ExcessHet=0.7564;FS=24.439;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.08;MQRankSum=-23.96;QD=1.41;ReadPosRankSum=8.25;SOR=3.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:876,88:966:99:.:.:880,0,36470:.	14	0	4	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	5568.93	1334	chr12	40487375	.	G	C	5568.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.33;DP=19470;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.02;MQRankSum=-24.04;QD=1.4;ReadPosRankSum=8.14;SOR=3.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:872,88:960:99:0|1:40487326_C_A:545,0,36295:40487326	14	0	4	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	6029.93	1334	chr12	40487377	.	C	G	6029.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.56;DP=19511;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.99;MQRankSum=-23.64;QD=1.52;ReadPosRankSum=7.54;SOR=3.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:867,90:957:99:0|1:40487326_C_A:987,0,36087:40487326	14	0	4	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5797.43	1334	chr12	40487388	.	C	G	5797.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.241;DP=19556;ExcessHet=0.7564;FS=27.827;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.14;MQRankSum=-25.65;QD=1.46;ReadPosRankSum=5.84;SOR=3.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:854,88:942:99:0|1:40487326_C_A:601,0,35545:40487326	15	0	4	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	6723.93	1334	chr12	40487403	.	G	T	6723.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-6.59;DP=19624;ExcessHet=0.7564;FS=22.397;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.86;MQRankSum=-26.28;QD=1.66;ReadPosRankSum=2.05;SOR=2.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:863,88:951:99:0|1:40487326_C_A:577,0,35930:40487326	14	0	4	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	7982.25	1334	chr12	40487418	.	G	C	7982.25	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-5.558;DP=20383;ExcessHet=1.3;FS=14.897;InbreedingCoeff=-0.1692;MLEAC=5;MLEAF=0.139;MQ=55.59;MQRankSum=-28.69;QD=1.4;ReadPosRankSum=-3.687;SOR=2.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:865,86:953:99:.:.:818,0,36318:.	13	0	5	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7676.39	1334	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	7676.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.087;DP=20278;ExcessHet=0.7564;FS=13.759;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.27;MQRankSum=-26.51;QD=1.87;ReadPosRankSum=-6.728;SOR=1.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:885,77:962:99:0|1:40487326_C_A:99,0,36907:40487326	15	0	4	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1071.79	1334	chr12	40487422	.	A	ACC	1071.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.696;DP=19757;ExcessHet=0.119;FS=15.134;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.95;MQRankSum=-27.76;QD=0.52;ReadPosRankSum=3.63;SOR=2.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:995,0:995:99:.:.:0,120,1800:.	17	0	2	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:881,0:881:54:.:.:2899,0,36560:.	14	0	5	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:881,0:881:54:.:.:2899,54,36567:.	8	0	11	0
chr12	40487433	40487433	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	533	931	32	0	26	58	0.0168955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489428232	1.207e-06	4.11e-06	2.243e-06	0	1.32e-06	0	0	.	.	0	0	0	0	0	0	1.32e-06	0	0	7.447e-05	0.0018	9.648e-05	5.114e-05	0.0001	3.796e-05	2.83e-05	4.787e-05	3.216e-05	5.844e-05	0	0	0	0	0.0001	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	58.68	1387	chr12	40487433	.	A	G	58.68	.	AC=1;AF=0.042;AN=24;DP=20138;ExcessHet=0;FS=0;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=56.08;QD=0.06;SOR=0.646	GT:AD:DP:GQ:PL	0/0:872,0:872:99:0,120,1800	11	0	1	7
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3607.79	1391	chr12	40487442	.	G	GGCT	3607.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.356;DP=20382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=-28.47;QD=1.77;ReadPosRankSum=0.909;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800:.	17	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:872,0:872:99:.:.:0,120,1800:.	11	0	8	0
chr12	40487614	40487614	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	554	957	11	0	0	11	0.00571429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199534443	3.042e-05	0.0014	2.262e-05	3.951e-05	6.158e-05	2.088e-05	1.764e-05	1.916e-05	1.636e-05	0	0	0.0004	0	0	0	2.927e-05	0	6.158e-05	0.0011	0.0027	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0012	0.0001	0	0.0008	0.0102	0	0	0	0.0015	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4824.33	1119	chr12	40487614	.	G	A	4824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.4;DP=16843;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.3;MQRankSum=-12.42;QD=4.23;ReadPosRankSum=-3.643;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487622	40487622	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	555	956	11	0	0	11	0.00572023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200780002	1.594e-05	0.0014	1.236e-05	2.01e-05	6.838e-05	8.5e-06	6.71e-06	6.15e-06	4.46e-06	6.699e-05	0	0.0002	0	0	0	1.308e-05	0	6.838e-05	0.0017	0.0059	0.0017	0.0017	0.0031	0.0015	0.0014	0.0018	0.0017	0.0007	0	0.0013	0.0125	0.0007	0.0004	0	0.0022	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4177.33	1119	chr12	40487622	.	A	G	4177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=16822;ExcessHet=0;FS=4.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.33;MQRankSum=-18.81;QD=3.86;ReadPosRankSum=-6.205;SOR=1.078	GT:AD:DP:GQ:PL	0/0:860,0:860:99:0,120,1800	18	0	1	0
chr12	40487628	40487628	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	964	9	0	0	9	0.00464636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2588415	4.708e-05	0.0007	5.16e-05	4.182e-05	5.148e-05	3.524e-05	3.094e-05	3.853e-05	3.383e-05	0	0	0	0	0	0	5.148e-05	0	0	0.0006	0.0026	0.0005	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0002	0	0.0005	0.0068	0	0	0	0.0007	0.0006	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3508.33	1119	chr12	40487628	.	T	C	3508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=9.95;DP=16812;ExcessHet=0;FS=2.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.35;MQRankSum=-13.44;QD=3.1;ReadPosRankSum=-6.698;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487630	40487630	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	546	967	9	0	0	9	0.00463201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186039868	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0020	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	4.82e-05	0	0.0005	0.0045	0	0	0	0.0005	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2804.33	1119	chr12	40487630	.	G	A	2804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=16792;ExcessHet=0;FS=5.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-13.83;QD=2.52;ReadPosRankSum=-7.174;SOR=1.351	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487631	40487631	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	545	968	9	0	0	9	0.00462725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246198049	1.205e-06	0.0003	0	2.609e-06	1.318e-06	0	0	.	.	0	0	0	0	0	0	1.318e-06	0	0	0.0004	0.0019	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	4.817e-05	0	0.0005	0.0042	0	0	0	0.0005	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2678.33	1119	chr12	40487631	.	G	C	2678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=12.3;DP=16789;ExcessHet=0;FS=5.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.39;MQRankSum=-13.67;QD=2.42;ReadPosRankSum=-7.048;SOR=1.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487633	40487633	T	G	exonic	MUC19	.	unknown	UNKNOWN	.	553	959	10	0	0	10	0.00518672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2588416	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0020	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	5.372e-05	0	0.0004	0.0041	0	0	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2489.33	1119	chr12	40487633	.	T	G	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.45;DP=16777;ExcessHet=0;FS=7.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.39;MQRankSum=-13.72;QD=2.27;ReadPosRankSum=-7.93;SOR=1.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487634	40487634	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	962	9	0	0	9	0.00465598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395004529	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0020	0.0003	0.0004	0.0007	0.0003	0.0002	0.0003	0.0002	4.948e-05	0	0.0004	0.0036	0	0	0	0.0004	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2495.33	1119	chr12	40487634	.	C	T	2495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=16775;ExcessHet=0;FS=7.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.37;MQRankSum=-13.93;QD=2.28;ReadPosRankSum=-8.461;SOR=1.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487641	40487641	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	545	970	7	0	0	7	0.00359527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413162729	0	2.741e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0017	0.0001	0.0002	0.0006	0.0001	8.753e-05	0.0002	9.078e-05	2.41e-05	0	0.0001	0.0018	0	0	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2489.33	1119	chr12	40487641	.	T	C	2489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.791;DP=16777;ExcessHet=0;FS=2.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.32;MQRankSum=-15.83;QD=2.27;ReadPosRankSum=-9.731;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487644	40487644	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	547	968	7	0	0	7	0.00360268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178664572	1.204e-06	1.919e-05	0	2.607e-06	1.317e-06	0	0	.	.	0	0	0	0	0	0	1.317e-06	0	0	0.0001	0.0016	7.789e-05	0.0001	0.0004	7.167e-05	5.81e-05	7.471e-05	5.131e-05	2.43e-05	0	6.604e-05	0.0012	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2348.33	1119	chr12	40487644	.	G	A	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=10.35;DP=16779;ExcessHet=0;FS=3.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.37;MQRankSum=-15.24;QD=2.14;ReadPosRankSum=-10.93;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487647	40487647	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	547	969	6	0	0	6	0.00308642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360560493	0	5.483e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0016	7.744e-05	0.0002	0.0004	7.609e-05	6.308e-05	7.952e-05	6.025e-05	2.409e-05	0	6.559e-05	0.0012	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2438.33	1119	chr12	40487647	.	G	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=16779;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.38;MQRankSum=-15.16;QD=2.22;ReadPosRankSum=-11.05;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487658	40487658	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	548	973	1	0	0	1	0.000513611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362322787	0	1.508e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0013	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0003	2.629e-05	0	0.0001	0.0059	0.0002	0.0001	0	0.0005	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2984.33	1119	chr12	40487658	.	A	C	2984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.53;DP=16792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-14.13;QD=2.68;ReadPosRankSum=-12.2;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	18	0	1	0
chr12	40487685	40487685	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	546	974	2	0	0	2	0.00102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs543650336	0	1.438e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.633e-05	0.0002	5.18e-05	4.062e-05	0.0002	2.123e-05	1.536e-05	1.983e-05	1.132e-05	0	0	0	0.0006	0	0	0	5.926e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	4326.7	1119	chr12	40487685	.	C	T	4326.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.03;DP=17759;ExcessHet=0;FS=2.525;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=59.5;MQRankSum=-8.586;QD=3.93;ReadPosRankSum=-5.929;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	11	0	1	7
chr12	40487694	40487694	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	970	1	0	0	1	0.000515198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs2638871	0	4.314e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.338e-05	0.0002	6.519e-05	8.196e-05	0.0002	4.03e-05	3.17e-05	2.872e-05	1.877e-05	0	0	0	0.0012	0	9.619e-05	0	7.438e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	5041.7	1119	chr12	40487694	.	C	T	5041.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=1.71;DP=17775;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=59.63;MQRankSum=-8.986;QD=4.58;ReadPosRankSum=-3.883;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	11	0	1	7
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	299.79	631	chr12	40488211	.	TGGGGTG	T	299.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.777;DP=13465;ExcessHet=0.119;FS=9.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.81;MQRankSum=-20.17;QD=0.17;ReadPosRankSum=-4.478;SOR=1.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:560,0:560:99:.:.:0,120,1800:.	17	0	2	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8703.6	631	chr12	40488214	.	G	*	8703.6	.	AC=2;AF=0.071;AN=28;BaseQRankSum=6.55;DP=13462;ExcessHet=1.3;FS=8.732;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.071;MQ=58.21;MQRankSum=-16.67;QD=2.4;ReadPosRankSum=-8.188;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:466,0:579:99:0|1:40488162_G_A:3342,4745,24312:40488162	12	0	2	5
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	3652.71	674	chr12	40488250	.	A	T	3652.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.91;DP=11353;ExcessHet=0;FS=7.631;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.06;MQRankSum=-15.75;QD=4.17;ReadPosRankSum=-8.836;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:404,0:404:99:.:.:0,120,1800:.	17	0	1	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1202.71	674	chr12	40488255	.	G	T	1202.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.12;DP=11285;ExcessHet=0;FS=50.904;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.19;MQRankSum=-12.35;QD=1.49;ReadPosRankSum=-8.893;SOR=7.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:404,0:404:99:.:.:0,120,1800:.	17	0	1	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	62.71	674	chr12	40488262	.	A	G	62.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=10.61;DP=11437;ExcessHet=0;FS=33.576;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.63;MQRankSum=-12.79;QD=0.07;ReadPosRankSum=-8.842;SOR=6.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:404,0:404:99:.:.:0,120,1800:.	17	0	1	1
chr12	40488518	40488518	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10594.3	549	chr12	40488518	.	A	C	10594.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=9492;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.49;QD=13.51;ReadPosRankSum=0.725;SOR=0.666	GT:AD:DP:GQ:PL	0/0:386,0:386:99:0,120,1800	18	0	1	0
chr12	40488645	40488645	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	696	810	15	0	1	16	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs879525667	4.364e-06	4.772e-05	5.408e-06	3.148e-06	4.774e-06	1.16e-06	3.2e-07	1.27e-06	3.5e-07	0	0	0	0	0	0	4.774e-06	0	0	0.0024	0.0055	0.0023	0.0024	0.0057	0.0020	0.0019	0.0030	0.0022	0.0020	0.0078	0.0038	0.0007	0.0057	0.0049	0	0.0020	0.0026	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	4264.89	544	chr12	40488645	.	T	C	4264.89	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.491;DP=11200;ExcessHet=0;FS=8.412;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.111;MQ=57.34;MQRankSum=-13.02;QD=7.91;ReadPosRankSum=-3.911;SOR=1.275	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:585,0:585:0:.:.:0,0,7142:.	8	0	1	10
chr12	40488647	40488647	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	895	611	15	0	1	16	0.0121261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1270620408	4.395e-06	0.0001	5.449e-06	3.169e-06	4.809e-06	1.17e-06	3.2e-07	1.28e-06	3.6e-07	0	0	0	0	0	0	4.809e-06	0	0	0.0016	0.0039	0.0016	0.0017	0.0043	0.0014	0.0013	0.0023	0.0020	0.0009	0.0031	0.0035	0	0.0043	0.0042	0	0.0014	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	4473.98	544	chr12	40488647	.	G	A	4473.98	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.455;DP=11246;ExcessHet=0;FS=8.398;InbreedingCoeff=0.0077;MLEAC=2;MLEAF=0.111;MQ=57.33;MQRankSum=-12.75;QD=8.11;ReadPosRankSum=-3.436;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:586,0:586:0:.:.:0,0,6828:.	8	0	1	10
chr12	40488655	40488655	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	683	815	24	0	0	24	0.0145103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs55798248	3.791e-05	0.0003	3.383e-05	4.266e-05	3.816e-05	2.601e-05	2.198e-05	2.54e-05	2.121e-05	0	0	0	0	0	0	3.816e-05	9.246e-05	0	0.0056	0.0092	0.0058	0.0054	0.0100	0.0051	0.0049	0.0070	0.0062	0.0038	0.0134	0.0093	0.0024	0.0100	0.0104	0.0132	0.0055	0.0085	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	4964.58	493	chr12	40488655	.	C	A	4964.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.876;DP=10397;ExcessHet=0;FS=6.779;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=57.22;MQRankSum=-11.6;QD=8.56;ReadPosRankSum=-2.034;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:400,0:400:99:.:.:0,120,1800:.	13	0	1	5
chr12	40488755	40488784	GTGACAGGGACAACTGGACTATCAGCTGGG	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89e-05	0.0001	2.007e-05	1.754e-05	6.55e-05	1.096e-05	8.58e-06	4.29e-06	2.76e-06	6.55e-05	0	0	0	0	0	1.033e-05	0.0002	0	9.466e-05	0.0012	0.0001	7.389e-05	0.0011	4.66e-05	3.431e-05	0.0002	8.041e-05	7.344e-05	0	0	0	0	0	0	8.253e-05	0.0009	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	154.67	755	chr12	40488754	.	AGTGACAGGGACAACTGGACTATCAGCTGGG	A	154.67	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.72;DP=18059;ExcessHet=0;FS=4.98;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.167;MQ=57.93;MQRankSum=-0.453;QD=0.21;ReadPosRankSum=-8.868;SOR=1.295	GT:AD:DP:GQ:PL	./.:1080,0:1080:0:0,0,18528	5	0	1	13
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	789.55	933	chr12	40488858	.	C	A	789.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.28;DP=13370;ExcessHet=0;FS=14.736;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=59.81;MQRankSum=-4.783;QD=0.87;ReadPosRankSum=-9.584;SOR=2.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:591,0:591:99:.:.:0,120,1800:.	15	0	1	3
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	298.55	933	chr12	40488861	.	G	C	298.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=4.84;DP=13344;ExcessHet=0;FS=19.058;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=59.81;MQRankSum=-3.384;QD=0.34;ReadPosRankSum=-9.568;SOR=2.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:591,0:591:99:.:.:0,120,1800:.	15	0	1	3
chr12	40488965	40488965	-	TAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.35e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1881.19	827	chr12	40488965	.	A	ATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAG	1881.19	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.8;DP=11234;ExcessHet=0.119;FS=13.344;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.036;MQ=57.64;MQRankSum=-18.94;QD=1.38;ReadPosRankSum=-7.253;SOR=1.649	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:543,0:543:0:.:.:0,0,13284:.	13	0	1	5
chr12	40489477	40489477	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs962250305	1.204e-06	6.843e-07	0	2.606e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	2.011e-05	2.629e-05	2.61e-05	1.378e-05	4.485e-05	5.35e-06	2.48e-06	1.191e-05	6.3e-06	0	0	0	0	0	0	0	4.485e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	11552.3	582	chr12	40489477	.	G	A	11552.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=13663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=5.15;QD=12.15;ReadPosRankSum=0.892;SOR=0.643	GT:AD:DP:GQ:PL	0/0:884,0:884:99:0,120,1800	18	0	1	0
chr12	40490164	40490164	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	558	951	13	0	0	13	0.00678851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1239347899	0	6.774e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0019	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	8.235e-05	0	7.296e-05	0.0003	0	0.0002	0	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5674.33	1092	chr12	40490164	.	G	A	5674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=15169;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.5;MQRankSum=-13.37;QD=4.59;ReadPosRankSum=7.06;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:821,0:821:99:.:.:0,120,1800:.	18	0	1	0
chr12	40490179	40490179	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	961	10	0	0	10	0.00517598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182144829	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0010	0.0001	0.0001	0.0006	7.104e-05	5.758e-05	0.0002	9.04e-05	0	0	6.554e-05	0.0006	0	0	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5218.33	1092	chr12	40490179	.	T	A	5218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=15123;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.29;MQRankSum=-11.75;QD=4.32;ReadPosRankSum=0.054;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:821,0:821:99:.:.:0,120,1800:.	18	0	1	0
chr12	40490203	40490232	GATAGCTGGACTCTCAGCTGGGGTGACAGA	-	exonic	MUC19	.	unknown	UNKNOWN	.	578	939	5	0	0	5	0.00265534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245414011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.648e-06	4.619e-05	1.298e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3401.29	1092	chr12	40490202	.	GGATAGCTGGACTCTCAGCTGGGGTGACAGA	G	3401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=15229;ExcessHet=0;FS=5.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.05;MQRankSum=-9.44;QD=2.59;ReadPosRankSum=-10.69;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:821,0:821:99:.:.:0,120,1800:.	18	0	1	0
chr12	40490238	40490238	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	570	950	2	0	0	2	0.00105152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309616104	2.647e-06	9.378e-06	0	5.727e-06	0.0003	4.4e-07	1.7e-07	.	.	0	0	0	0.0003	0	0	1.448e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	1278.14	1053	chr12	40490238	.	T	C	1278.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=10.67;DP=15097;ExcessHet=0;FS=27.052;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=52.41;MQRankSum=-5.007;QD=1.2;ReadPosRankSum=-8.076;SOR=3.396	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:957,0:957:0:.:.:0,0,21191:.	16	0	1	2
chr12	40490657	40490657	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs113156802	7.202e-06	6.156e-06	6.69e-06	7.798e-06	0.0004	2.59e-06	1.7e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0004	2.628e-05	2.625e-05	1.286e-05	4.03e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6119.33	770	chr12	40490657	.	G	A	6119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.84;DP=10669;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.063;QD=12.72;ReadPosRankSum=-0.054;SOR=0.906	GT:AD:DP:GQ:PL	0/0:581,0:581:99:0,120,1800	18	0	1	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	14570.4	920	chr12	40490978	.	G	A	14570.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=4.78;DP=12604;ExcessHet=0;FS=28.951;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.059;MQ=59.71;MQRankSum=2.98;QD=28.74;ReadPosRankSum=5.82;SOR=0.294	GT:AD:DP:GQ:PL	0/0:536,0:536:99:0,120,1800	16	1	0	2
chr12	40507004	40507004	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	442	1064	15	1	0	17	0.00792541	.	.	.	2806890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs536871012	0.0017	0.0004	0	0.0029	0.0091	0	0	.	.	0	.	.	.	0	0	0.0091	0	0	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0050	0.0001	0	0.0026	0.0089	0	0.0008	0.0034	0.0011	0.0024	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1763.33	166	chr12	40507004	.	C	T	1763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=1692;ExcessHet=0;FS=2.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.722;SOR=0.919	GT:AD:DP:GQ:PL	0/0:195,0:195:99:0,120,1800	18	0	1	0
chr12	40507266	40507266	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947544950	4.696e-06	3.216e-05	5.873e-06	3.353e-06	8.381e-05	1.25e-06	3.5e-07	5.8e-07	2.2e-07	0	0	0	0	0	0	3.495e-06	0	8.381e-05	1.315e-05	1.314e-05	0	2.692e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	40	chr12	40507266	.	G	A	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.329;SOR=0.737	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1385.93	216	chr12	40509053	.	T	A	1385.93	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.103;DP=3219;ExcessHet=1.3;FS=2.065;InbreedingCoeff=-0.3398;MLEAC=7;MLEAF=0.35;MQ=59.41;MQRankSum=-11.22;QD=1.61;ReadPosRankSum=2.26;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:179,0:179:0:.:.:0,0,3306:.	5	0	5	9
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1396.34	219	chr12	40509056	.	G	A	1396.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.348;DP=3149;ExcessHet=1.3;FS=2.086;InbreedingCoeff=-0.3341;MLEAC=7;MLEAF=0.35;MQ=59.38;MQRankSum=-11.72;QD=1.59;ReadPosRankSum=2.49;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:180,0:180:0:.:.:0,0,3270:.	5	0	5	9
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1340.22	217	chr12	40509061	.	G	C	1340.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.07;DP=3190;ExcessHet=1.3;FS=0.986;InbreedingCoeff=-0.3424;MLEAC=7;MLEAF=0.35;MQ=59.42;MQRankSum=-11.56;QD=1.52;ReadPosRankSum=2.14;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:184,0:184:0:.:.:0,0,3434:.	5	0	5	9
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:184,0:184:0:.:.:0,0,3434:.	4	0	6	9
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1399.28	221	chr12	40509076	.	G	A	1399.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.944;DP=2985;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.56;QD=1.61;ReadPosRankSum=1.76;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:181,0:181:0:.:.:0,0,3422:.	5	0	5	9
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1381.28	214	chr12	40509081	.	T	C	1381.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.285;DP=2965;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.6;QD=1.58;ReadPosRankSum=2.07;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:182,0:182:0:.:.:0,0,3532:.	5	0	5	9
chr12	40510221	40510221	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	551	928	43	0	0	43	0.0226435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs11176952	0.0106	0.0063	0.0104	0.0109	0.0204	0.0104	0.0103	0.0186	0.0179	0.0015	0.0040	0.0037	0.0003	0.0016	0.0148	0.0110	0.0073	0.0204	0.0073	0.0073	0.0079	0.0067	0.0162	0.0070	0.0068	0.0133	0.0122	0.0022	0.0899	0.0027	0.0037	0	0.0015	0.0170	0.0114	0.0062	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	873.33	37	chr12	40510221	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=807;ExcessHet=0;FS=8.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.435;SOR=1.748	GT:AD:DP:GQ:PL	0/1:49,33:82:99:887,0,1198	18	0	1	0
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	88.84	50	chr12	40511000	.	A	G	88.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=2381;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=58.89;MQRankSum=-14.68;QD=0.22;ReadPosRankSum=-3.215;SOR=4.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:194,0:194:99:.:.:0,120,1800:.	17	0	2	0
chr12	40512213	40512213	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	961	11	3	0	17	0.00876741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796294409	1.2e-06	0.0004	0	2.598e-06	1.313e-06	0	0	.	.	0	0	0	0	0	0	1.313e-06	0	0	1.744e-05	0.0089	1.712e-05	1.777e-05	0.0003	2.9e-06	1.08e-06	.	.	0	0	8.983e-05	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	91.37	169	chr12	40512213	.	C	T	91.37	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.53;DP=2058;ExcessHet=0.119;FS=1.905;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=59.56;MQRankSum=-11.42;QD=0.33;ReadPosRankSum=-0.121;SOR=0.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:40512182_A_G:53,0,5025:40512182	10	0	2	7
chr12	40514434	40514434	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1251769254	0	1.271e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0.0002	0	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	142	chr12	40514434	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=2269;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.805;SOR=0.875	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	18	0	1	0
chr12	40525410	40525410	C	-	exonic	MUC19	.	unknown	UNKNOWN	.	436	1072	13	1	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs563397340	0.0049	0.0036	0.0048	0.0049	0.0058	0.0048	0.0047	0.0051	0.0049	0.0009	0.0007	0.0032	0.0002	0.0032	0.0025	0.0051	0.0038	0.0058	0.0033	0.0033	0.0035	0.0030	0.0060	0.0030	0.0029	0.0047	0.0046	0.0008	0	0.0022	0.0032	0	0.0026	0.0034	0.0052	0.0033	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1568.29	34	chr12	40525409	.	AC	A	1568.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.532;DP=863;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.658;SOR=0.776	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr12	40534711	40534711	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	444	1047	30	1	0	32	0.0150517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0076	0	0.0050	0	0	0.0041	0.0069	0.0170	0.0008797	136	154602	rs200624352	0.0014	0.0015	0.0013	0.0015	0.0183	0.0013	0.0013	0.0153	0.0141	0.0002	0.0015	0.0038	0	9.606e-05	0.0183	0.0011	0.0024	0.0069	0.0012	0.0012	0.0011	0.0013	0.0056	0.0011	0.0010	0.0039	0.0034	0.0003	0	0.0018	0.0058	0.0002	0	0.0181	0.0012	0.0040	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1567.83	50	chr12	40534711	.	G	A	1567.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=794;ExcessHet=0.119;FS=10.147;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.741;SOR=1.498	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	17	0	2	0
chr12	40545398	40545398	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0025	0.0022	0	0	0.0006	0.0047	0	0.0017	0.000815	126	154602	rs182952935	0.0030	0.0024	0.0030	0.0031	0.0162	0.0029	0.0029	0.0131	0.0120	0.0010	0.0024	0.0087	0	0.0003	0.0162	0.0031	0.0030	0.0026	0.0025	0.0025	0.0027	0.0024	0.0037	0.0023	0.0022	0.0034	0.0032	0.0008	0.0044	0.0022	0.0075	0	0.0003	0.0204	0.0037	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	863.33	37	chr12	40545398	.	G	A	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.469;DP=760;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.53;SOR=0.449	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	41573083	41573083	T	G	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.T1530G:p.N510K,PDZRN4:NM_001164595:exon10:c.T2304G:p.N768K	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00678914	0.0044	0.0002	0	0	0	3.003e-05	0	0.0321	0.0037968	587	154602	rs577990545	0.0020	0.0020	0.0011	0.0028	0.0315	0.0019	0.0019	0.0305	0.0301	2.987e-05	2.236e-05	0	0	0	0.0010	9.892e-06	0.0020	0.0315	0.0010	0.0010	0.0005	0.0015	0.0313	0.0009	0.0008	0.0272	0.0256	0	0	0	0	0	0	0	0	0	0.0313	0.053	0.38863	T	0.175	0.31125	T	1.0	0.90584	D	0.973	0.72923	D	0.000414	0.44736	D	0.193469	0.99991	0.51042	D	2.275	0.64647	M	-0.61	0.71779	T	-1.91	0.44471	N	0.527	0.55626	-0.1992	0.77692	T	0.465	0.79295	T	10	0.0047870874	0.00101	T	.	.	.	0.122	0.33800	0.228	0.15406	0.657421573829	0.65455	0.381811666616586	0.38096	0.604602005228	0.55391	0.533141970634	0.43478	T	0.024092	0.18267	T	-0.384912	0.02900	T	-0.300608	0.44659	T	0.106651302305366	0.13073	T	0.933407	0.75038	D	0.09599029	0.22601	0.13603622	0.32555	0.09599029	0.22601	0.13603622	0.32554	-4.988	0.36709	T	.	.	0.712	0.76236	P	.;.;.;.	.;.;.;.	1.568843	0.20088	14.58	0.9660675384185522	0.30427	0.94976	0.62988	D	AEFBI	0.701047	0.65786	D	-0.210593960815514	0.32700	1.846919	-0.221104616302431	0.30781	1.73608	2.14914265241805E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	-0.844	0.10197	0.649000	0.24529	-0.884000	0.07053	-0.692000	0.04118	0.999000	0.42656	0.009000	0.19889	0.986000	0.61781	0.0:0.6905:0.0:0.3095	11.265	0.48336	789	0.46346	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3937.33	33	chr12	41573083	.	T	G	3937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=1050;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.362;SOR=0.774	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	18	0	1	0
chr12	41573505	41573505	G	T	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.G1952T:p.R651L,PDZRN4:NM_001164595:exon10:c.G2726T:p.R909L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0272032187023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.959	0.62325	D	0.621	0.67021	P	0.000120	0.50451	D	0.081704	0.999966	0.52935	D	2.44	0.70756	M	0.85	0.47130	T	-5.76	0.89871	D	0.533	0.70790	-0.5739	0.65860	T	0.268	0.63897	T	10	0.67680347	0.71040	D	0.027203	0.50036	D	0.240	0.54500	0.424	0.46857	0.789849054134	0.78790	0.35685984664631104	0.35599	0.548449671167	0.51785	0.706968963146	0.68154	T	0.206056	0.56528	T	-0.0217891	0.48597	T	-0.269075	0.47912	T	0.996186196804047	0.88832	D	0.989701	0.96679	D	0.6019628	0.72796	0.58931303	0.76174	0.6019628	0.72797	0.58931303	0.76175	-12.886	0.88888	D	.	.	0.658	0.71241	P	.;.;.;.	.;.;.;.	4.711053	0.75686	26.4	0.99811529912975494	0.89531	0.96760	0.70792	D	AEFBI	0.785465	0.71584	D	0.701956432343782	0.79761	7.146348	0.680455298596931	0.80896	7.402071	0.220376603591332	0.18348	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	5.453000	0.66386	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.074:0.0:0.926:0.0	13.220	0.59305	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	33	chr12	41573505	.	G	T	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=824;ExcessHet=0;FS=4.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.549;SOR=0.392	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	18	0	1	0
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19,GXYLT1:NM_173601:exon3:c.321_322insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L108Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	274.78	102	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	274.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.178;DP=1443;ExcessHet=0;FS=27.087;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-7.049;QD=3.87;ReadPosRankSum=-2.046;SOR=3.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,120,1800:.	18	0	1	0
chr12	42446286	42446286	G	T	exonic	PPHLN1	.	nonsynonymous SNV	PPHLN1:NM_001364826:exon9:c.G1061T:p.R354L,PPHLN1:NM_001364825:exon10:c.G1199T:p.R400L,PPHLN1:NM_001364829:exon10:c.G1217T:p.R406L,PPHLN1:NM_001143787:exon11:c.G1274T:p.R425L,PPHLN1:NM_001364827:exon11:c.G1382T:p.R461L,PPHLN1:NM_001364831:exon11:c.G1238T:p.R413L,PPHLN1:NM_001364823:exon12:c.G1295T:p.R432L,PPHLN1:NM_016488:exon12:c.G1346T:p.R449L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00152117174528	.	.	9.381e-06	0	8.842e-05	0	0	0	0	0	6.5e-06	1	154602	rs781307689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.40319	T	0.334	0.18617	T	0.042	0.21471	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.16	0.13611	N	0.352	0.43126	-1.0295	0.20616	T	0.041	0.17530	T	7	0.05529663	0.06023	T	0.001521	0.02369	T	0.071	0.20720	0.303	0.27164	0.251116650651	0.24721	0.057274820244621494	0.05668	0.262470570892	0.28810	0.449866950512	0.31926	T	0.085674	0.37554	T	-0.108909	0.34950	T	-0.394217	0.34059	T	0.0318297896764545	0.02279	T	0.533547	0.17787	T	0.08000611	0.18310	0.115725756	0.27936	0.08000611	0.18309	0.115725756	0.27936	-2.711	0.07396	T	.	.	0.196	0.41753	B	.;.;.;.;.	.;.;.;.;.	0.165271	0.05550	2.010	0.89438858758279682	0.18797	0.00448	0.02174	N	AEFDBI	0.043643	0.06925	N	-1.21088413991653	0.04840	0.2193289	-1.30297218828058	0.04392	0.2070419	0.98854107969377	0.31551	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	0.158	0.158	0.14233	0.252000	0.18046	0.403000	0.18023	0.271000	0.18527	0.060000	0.21767	0.080000	0.22369	0.038000	0.14061	.	.	.	503	0.75780	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	39	chr12	42446286	.	G	T	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=871;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.81;SOR=0.76	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144882:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144883:exon4:c.G370A:p.A124T,PRICKLE1:NM_153026:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	1	1491	29	1	0	31	0.0102887	.	.	.	135473	not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.015152	0.02632	1132.33	41	chr12	42469464	.	C	T	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.039;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.012;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	18	0	1	0
chr12	43428762	43428762	T	C	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon25:c.A3527G:p.Y1176C	.	.	.	.	.	.	.	.	.	.	.	3245794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0571383113498	7.7e-05	.	4.129e-05	0	0	0	0	7.512e-05	0	0	5.82e-05	9	154602	rs376373660	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.986e-05	0	0	0	0	0.0002	0.0002	3.324e-05	4.66e-05	7.231e-05	7.224e-05	0.0001	1.346e-05	0.0001	3.973e-05	3.128e-05	6.805e-05	5.088e-05	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0	0.007	0.78490	D	0.004	0.83351	D	.	.	.	.	.	.	0.008158	0.30992	N	0.147317	0.999998	0.81001	D	3.1	0.87590	M	0.57	0.54347	T	-7.63	0.96736	D	0.955	0.96416	-0.2211	0.77122	T	0.372	0.73091	T	10	0.8162996	0.80866	D	0.057138	0.66856	D	0.363	0.68319	.	.	0.862613207292	0.86127	0.6358997427928809	0.63523	0.274460848789	0.29933	0.726551532745	0.71003	T	.	.	.	0.115586	0.65927	D	0.176564	0.81796	D	0.852231562137604	0.50359	D	0.956904	0.83579	D	.	.	.	.	.	.	.	.	-13.916	0.92780	D	.	.	0.897	0.84598	P	.;.;.;.	.;.;.;.	4.659205	0.74356	26.1	0.99842445252136103	0.92229	0.99248	0.93414	D	AEFBI	0.898340	0.84151	D	0.759996339062808	0.83556	8.04796	0.708655472673904	0.83037	7.917533	0.991923405595301	0.32657	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	5.938000	0.69885	6.184000	0.54674	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.569	0.76062	888	0.27761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1753.33	34	chr12	43428762	.	T	C	1753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.675;DP=814;ExcessHet=0;FS=1.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.571;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr12	43550956	43550956	T	C	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon2:c.A406G:p.N136D	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0135331889893	.	0.000199681	1.387e-05	0	0	0	0	2.454e-05	0	0	1.29e-05	2	154602	rs564076811	4.835e-06	4.788e-06	1.37e-06	8.357e-06	2.302e-05	2.01e-06	1.29e-06	1.96e-06	1.29e-06	0	2.302e-05	0	0	0	0	5.44e-06	0	0	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.093	0.58089	T	.	.	.	.	.	.	0.000871	0.41335	D	0.000000	0.999983	0.54805	D	2.04	0.55661	M	3.39	0.05710	T	-3.31	0.65972	D	0.753	0.80866	-1.1778	0.00403	T	0.042	0.17869	T	10	0.48474863	0.60641	T	0.013533	0.33003	T	0.201	0.48592	0.517	0.61763	0.514127983839	0.51054	0.6906894559292883	0.69008	0.270020682365	0.29526	0.644956171513	0.59269	T	.	.	.	-0.142392	0.29510	T	-0.442313	0.28550	T	0.984251379966736	0.75626	D	0.759724	0.38410	T	.	.	.	.	.	.	.	.	-6.302	0.48738	T	.	.	0.298	0.52809	B	.;.;.	.;.;.	4.475051	0.69770	25.4	0.99656296825870638	0.77631	0.98225	0.80702	D	AEFDBI	0.867434	0.78720	D	0.47895594588035	0.65862	4.876201	0.41120263995064	0.62261	4.438668	0.999999999601767	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	7.329000	0.78434	7.423000	0.58731	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:0.0:0.0:1.0	14.055	0.64287	792	0.45996	.;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	714.33	34	chr12	43550956	.	T	C	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=694;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.1;SOR=1.187	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1155	18	0	1	0
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	./.:120,0:120:0:0,0,1789	8	0	5	6
chr12	44776143	44776143	C	T	exonic	NELL2	.	nonsynonymous SNV	NELL2:NM_001145108:exon8:c.G770A:p.R257Q,NELL2:NM_001145109:exon8:c.G767A:p.R256Q,NELL2:NM_001145107:exon9:c.G920A:p.R307Q,NELL2:NM_001145110:exon9:c.G839A:p.R280Q,NELL2:NM_006159:exon9:c.G770A:p.R257Q	.	429	1074	18	1	0	20	0.00922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0109592810215	0.0024	0.000798722	0.0026	0.0005	0.0009	0	0	0.0040	0.0022	0.0021	0.0025679	397	154602	rs111769386	0.0033	0.0033	0.0033	0.0033	0.0130	0.0032	0.0032	0.0106	0.0098	0.0005	0.0016	0.0243	0	0.0001	0.0130	0.0032	0.0043	0.0019	0.0023	0.0023	0.0025	0.0020	0.0031	0.0021	0.0020	0.0027	0.0026	0.0007	0	0.0012	0.0190	0	0.0003	0.0238	0.0031	0.0024	0.0015	0.293	0.15406	T	0.269	0.23501	T	0.024	0.21238	B	0.002	0.12992	B	0.002427	0.36574	N	0.215951	0.601037	0.33552	D	1.1	0.28011	L	-1.47	0.81559	T	-0.39	0.15379	N	0.192	0.30574	-0.4624	0.69987	T	0.311	0.68148	T	10	0.006328255	0.00143	T	0.010959	0.28083	T	0.070	0.20419	.	.	0.232442253697	0.22838	0.46111934328250176	0.46029	0.178714926814	0.20107	0.317323327065	0.13015	T	0.036663	0.24190	T	-0.374031	0.03395	T	-0.304919	0.44203	T	0.00925102773043949	0.00117	T	0.89551	0.76932	D	0.094063014	0.22106	0.06885488	0.14434	0.094063014	0.22106	0.06885488	0.14434	-6.622	0.51765	T	.	.	0.074	0.12084	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.498111	0.48928	22.7	0.99758235020177277	0.84851	0.90573	0.51861	D	AEFI	0.228846	0.35245	N	-0.0672611766374183	0.38835	2.280691	0.13015101717426	0.46098	2.861476	3.47503105987983E-4	0.06626	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	4.53	0.55009	3.029000	0.49397	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.0:0.8788:0.0:0.1212	13.149	0.58900	749	0.51929	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.005435	0.008772	0.050000	0.008621	0.006098	0.003788	0.02632	827.33	37	chr12	44776143	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=683;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.228;SOR=1.096	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr12	45429234	45429234	A	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001025356:exon20:c.A2656G:p.M886V,ANO6:NM_001142678:exon20:c.A2602G:p.M868V,ANO6:NM_001204803:exon21:c.A2719G:p.M907V	Scott syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2094818	not_provided|ANO6-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0085	0.00938498	0.0027	0.0255	0.0015	0	0	0.0006	0	6.101e-05	0.002639	408	154602	rs59243955	0.0010	0.0010	0.0012	0.0009	0.0267	0.0010	0.0010	0.0252	0.0246	0.0267	0.0019	0.0094	0	0	0.0021	0.0001	0.0025	4.637e-05	0.0080	0.0080	0.0081	0.0078	0.0262	0.0076	0.0075	0.0249	0.0244	0.0262	0	0.0056	0.0066	0	0	0	0.0001	0.0033	0	0.099	0.31682	T	0.35	0.19131	T	0.0	0.02946	B	0.001	0.04355	B	0.047100	0.23377	N	0.488835	1	0.81001	D	-0.345	0.03330	N	-0.23	0.66652	T	-0.59	0.17624	N	0.053	0.02462	-1.1203	0.02313	T	0.021	0.08917	T	10	0.002709657	0.00042	T	.	.	.	0.033	0.08068	.	.	0.396494342077	0.39262	0.33042904511674576	0.32955	0.186940038993	0.21008	0.344627350569	0.17128	T	0.037988	0.24677	T	-0.567589	0.00229	T	-0.568482	0.15589	T	0.00485228230065393	0.00052	T	0.716128	0.32863	T	0.042221066	0.06364	0.051177863	0.08182	0.049972873	0.08955	0.075923495	0.16763	-3.72	0.22993	T	.	.	0.066	0.06114	B	.;.;.	.;.;.	0.944311	0.13202	9.702	0.89853668819430121	0.19160	0.58560	0.30674	D	AEFBI	0.069868	0.13847	N	-0.569257006971706	0.19884	1.044124	-0.420207571436963	0.24405	1.336202	0.713536679440254	0.22848	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	0.822	0.17944	0.957000	0.28812	1.736000	0.28364	0.756000	0.94297	1.000000	0.71638	0.831000	0.27213	0.987000	0.62547	0.473:0.1994:0.3276:0.0	5.067	0.13926	675	0.60470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.000000	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1100.33	35	chr12	45429234	.	A	G	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.833;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	18	0	1	0
chr12	45439774	45439774	G	A	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.G2626A:p.D876N	Scott syndrome, Autosomal recessive	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00758786	0.0049	0.0294	0.0025	0	0.0588	0.0024	0.0053	0.0014	0.0014812	229	154602	rs142698881	0.0038	0.0036	0.0039	0.0036	0.0292	0.0037	0.0037	0.0276	0.0270	0.0292	0.0025	0.0031	5.597e-05	0.0087	0.0081	0.0031	0.0048	0.0011	0.0096	0.0096	0.0087	0.0105	0.0256	0.0092	0.0090	0.0243	0.0238	0.0256	0	0.0033	0.0026	0	0.0120	0	0.0029	0.0048	0.0008	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.61	0.71779	T	0.73	0.02068	N	0.087	0.06454	-1.0453	0.15738	T	0.070	0.28412	T	9	0.0030485094	0.00050	T	.	.	.	0.066	0.19193	.	.	0.27132560031	0.26736	.	.	.	.	.	.	.	.	.	.	-0.634406	0.00090	T	-0.665133	0.07924	T	0.000498877279932547	0.00004	T	0.342266	0.07430	T	.	.	.	.	.	.	.	.	-2.697	0.07278	T	.	.	0.106	0.19598	B	.	.	-0.519929	0.01804	0.141	0.15850329424960052	0.00403	0.00207	0.01180	N	AEFBI	0.023692	0.01356	N	-1.7810413769565	0.00593	0.025559	-1.87690325032569	0.00543	0.02409833	0.99399070254426	0.33443	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.22	-4.45	0.03298	-1.971000	0.01593	-1.044000	0.06505	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2058:0.1647:0.6295	5.668	0.16981	711	0.56613	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003175	0.000000	0.013514	0.012658	0.000000	0.000000	0.000000	0.000000	0.02632	1411.33	74	chr12	45439774	.	G	A	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1071;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.684;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1362	18	0	1	0
chr12	45851364	45851364	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.G3241C:p.A1081P,ARID2:NM_152641:exon15:c.G3241C:p.A1081P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0204898321053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.032	0.53788	D	0.999	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	0.5	0.55608	T	-1.18	0.31375	N	0.666	0.80767	-0.6209	0.63951	T	0.267	0.63802	T	10	0.55411506	0.64420	D	0.02049	0.43095	T	0.262	0.57482	0.307	0.27806	0.435911362372	0.43211	0.5932185972973023	0.59251	0.662461532504	0.58977	0.772978186607	0.77870	T	0.021364	0.16647	T	0.135664	0.67909	D	-0.0429048	0.67505	D	0.803698023927007	0.46606	D	0.915608	0.71149	D	0.6806208	0.77003	0.6942057	0.81998	0.6806208	0.77004	0.6942057	0.81999	-3.11	0.11411	T	.	.	0.676	0.76349	P	.;.;.	.;.;.	5.048342	0.84074	28.2	0.99619865556731646	0.75353	0.98404	0.82430	D	AEFBCI	0.944266	0.95113	D	0.776176965053233	0.84596	8.332035	0.826112817599636	0.91548	10.94244	0.999999999609687	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	9.317000	0.95419	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.379	0.98927	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	35	chr12	45851364	.	G	C	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.42;ReadPosRankSum=-1.165;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	45852519	45852519	A	G	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.A4396G:p.S1466G,ARID2:NM_152641:exon15:c.A4396G:p.S1466G	.	429	1092	1	0	0	1	0.000457666	.	.	.	2774809	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	0.0125058065254	7.7e-05	.	7.415e-05	9.612e-05	0.0004	0	0	2.997e-05	0	6.056e-05	6.47e-05	10	154602	rs141396339	1.915e-05	1.915e-05	2.45e-05	1.375e-05	0.0002	1.328e-05	1.144e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	1.529e-05	1.656e-05	4.637e-05	2.626e-05	3.281e-05	1.285e-05	4.028e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.075	0.45530	T	0.982	0.63424	D	0.952	0.74454	D	0.000039	0.55875	D	0.225384	0.927833	0.42492	D	1.04	0.26193	L	1.31	0.35405	T	-0.51	0.22944	N	0.658	0.77601	-0.8768	0.50013	T	0.137	0.45280	T	10	0.41568485	0.56525	T	0.012506	0.31146	T	0.209	0.49871	.	.	0.36413608308	0.36018	0.1961289181450538	0.19529	0.529290241434	0.50498	0.581927061081	0.50357	T	0.037084	0.24346	T	-0.130468	0.31422	T	-0.155885	0.58719	T	0.249917635582466	0.22869	T	0.861714	0.55578	D	0.36514628	0.58224	0.2569578	0.51404	0.36514628	0.58225	0.2569578	0.51403	-4.48	0.30626	T	.	.	0.134	0.37895	B	.;.;.;.	.;.;.;.	4.334617	0.66445	25.0	0.99673890086532613	0.78782	0.96957	0.71871	D	AEFBI	0.551342	0.56345	D	0.595090745516831	0.72868	5.87386	0.649612381939147	0.78580	6.905287	0.799516032727889	0.24161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.584000	0.60682	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8695:0.0:0.0:0.1305	11.844	0.51647	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2472.33	35	chr12	45852519	.	A	G	2472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.692;DP=831;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.439;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	47078725	47078725	G	A	exonic	AMIGO2	.	nonsynonymous SNV	AMIGO2:NM_181847:exon2:c.C278T:p.A93V,AMIGO2:NM_001143668:exon3:c.C278T:p.A93V,AMIGO2:NM_001370299:exon3:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00329339175713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.297	0.20551	T	0.0	0.02946	B	0.0	0.01387	B	0.143263	0.02902	N	1.757900	1	0.08975	N	1.16	0.29674	L	4.35	0.02319	T	-0.58	0.17417	N	0.023	0.00571	-0.9197	0.45594	T	0.005	0.01833	T	10	0.0357289	0.01836	T	0.003293	0.07298	T	0.011	0.01250	0.443	0.49975	0.193917141947	0.19028	0.19532729245791014	0.19449	0.399366746743	0.40966	0.258934676647	0.04765	T	0.032971	0.22716	T	-0.37618	0.03293	T	-0.778133	0.02510	T	0.0633139386773109	0.07679	T	0.617538	0.23656	T	0.044194277	0.07020	0.033464987	0.02245	0.044194277	0.07020	0.033464987	0.02245	-3.39	0.14922	T	.	.	0.062	0.01600	B	.;.;.	.;.;.	0.885840	0.12589	9.119	0.83802129767418909	0.14928	0.05536	0.11429	N	AEFDGBCI	0.058539	0.10990	N	-1.30224784531831	0.03650	0.1634149	-1.35820744237327	0.03710	0.1736191	0.999999943040771	0.74766	0.660085	0.49399	0	0.563428	0.19063	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	3.94	-2.65	0.05739	0.204000	0.17133	1.783000	0.28733	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.536000	0.29845	0.2607:0.1381:0.3886:0.2126	1.662	0.02626	648	0.63242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1796.33	43	chr12	47078725	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=872;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.734;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	18	0	1	0
chr12	47751134	47751134	A	C	exonic	RAPGEF3	.	nonsynonymous SNV	RAPGEF3:NM_001098532:exon5:c.T459G:p.H153Q,RAPGEF3:NM_001098531:exon6:c.T585G:p.H195Q,RAPGEF3:NM_006105:exon6:c.T459G:p.H153Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00574601615155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0073	0.0011	0.0010	0.0012	0.0010	0.0010	0.0012	0.0011	0.0011	0.0002	0.0008	0.0006	0.0005	0.0007	0.0012	0.0009	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	8.888e-05	0.0001	0	6.539e-05	0	0.0004	0.0010	0	0.0002	0	0.0002	0.567	0.08359	T	0.416	0.14284	T	0.0	0.11197	B	0.001	0.10090	B	0.605209	0.10919	N	0.794314	1	0.81001	D	0.715	0.18665	N	2.57	0.13552	T	-0.12	0.12661	N	0.182	0.21188	-0.9904	0.32500	T	0.011	0.04042	T	10	0.067524314	0.09421	T	0.005746	0.14892	T	0.043	0.11576	0.234	0.16305	0.230578612272	0.22657	0.08009767959997238	0.07944	0.197249531467	0.22098	0.437502563	0.30236	T	0.059206	0.31052	T	-0.240501	0.15284	T	-0.583239	0.14257	T	0.0200933664840749	0.00710	T	0.605739	0.22785	T	0.02163158	0.00775	0.028546162	0.01101	0.02163158	0.00775	0.028546162	0.01101	-1.089	0.01103	T	.	.	0.075	0.07889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.993104	0.00781	0.025	0.79768435515302283	0.12892	0.02572	0.07117	N	AEFDBI	0.120213	0.23427	N	-1.42554533652461	0.02416	0.1066576	-1.48276246173804	0.02485	0.1143898	0.999999999909804	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.97	-9.93	0.00374	-1.113000	0.03407	-7.822000	0.01080	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2217:0.0985:0.4856:0.1942	5.121	0.14191	894	0.26265	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	71.33	35	chr12	47751134	.	A	C	71.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.926;DP=742;ExcessHet=0;FS=67.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.817;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	18	0	1	0
chr12	47973495	47973495	C	T	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon53:c.G4169A:p.R1390H,COL2A1:NM_001844:exon54:c.G4376A:p.R1459H	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	.	.	.	.	.	.	.	.	.	.	1198378	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.208023939335	.	.	3.295e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs777416478	1.094e-05	1.094e-05	9.529e-06	1.238e-05	0.0001	6.48e-06	5.24e-06	7.123e-05	5.481e-05	5.974e-05	0	0	0	0	0	2.698e-06	0	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.014	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-0.99	0.75911	T	-4.49	0.78046	D	0.62	0.89800	0.549	0.91226	D	0.659	0.88159	D	10	0.84235394	0.83393	D	0.208024	0.87124	D	0.799	0.93425	0.804	0.92230	0.757324575301	0.75511	0.7060950846413222	0.70551	0.388330317616	0.40095	0.671713173389	0.63082	T	0.814506	0.95399	D	0.0799662	0.62037	D	0.113758	0.77821	D	0.94150573015213	0.61482	D	0.990434	0.97165	D	0.6083384	0.73139	0.53460103	0.73107	0.6083384	0.73140	0.53460103	0.73108	-11.608	0.82889	D	0.40487822326443895	0.49614	0.858	0.80194	P	.;.	.;.	4.922325	0.81085	27.5	0.99836040162667372	0.91714	0.98985	0.89557	D	AEFDGBI	0.928361	0.91246	D	0.877374356717802	0.90609	10.48188	0.792136062516755	0.89240	9.895026	0.999999999962267	0.74766	0.648238	0.45900	0	0.588066	0.40923	0	0.693144	0.63139	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	7.902000	0.86082	7.729000	0.67687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.483	0.87572	635	0.64580	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2087.33	33	chr12	47973495	.	C	T	2087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=817;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-2.052;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1338	18	0	1	0
chr12	47978057	47978057	C	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon43:c.G2857T:p.V953L,COL2A1:NM_001844:exon44:c.G3064T:p.V1022L	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	0	1519	3	0	0	3	0.000986518	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0734176801487	.	.	8.543e-06	0	0	0	0	0	0	6.21e-05	1.29e-05	2	154602	rs199642249	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.31	0.22223	T	0.36	0.36976	B	0.161	0.38212	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.145	0.29067	L	-3.19	0.93170	D	-1.5	0.37375	N	0.452	0.50868	0.455	0.89901	D	0.709	0.89980	D	10	0.43403444	0.57676	T	0.073418	0.71785	D	0.418	0.72780	0.355	0.35571	0.785298969826	0.78331	0.5170034956118461	0.51623	0.309757753492	0.33285	0.680987119675	0.64410	T	0.414235	0.76786	T	0.0634064	0.60039	T	-0.0460675	0.67291	D	0.535954537824837	0.33954	D	0.652935	0.26315	T	0.46143055	0.64760	0.2552888	0.51209	0.46143055	0.64761	0.2552888	0.51208	-4.651	0.33295	T	0.18814781869959546	0.24559	0.248	0.48272	B	.;.	.;.	4.281684	0.65228	24.8	0.99357183468452148	0.60862	0.94590	0.61662	D	AEFDBI	0.704479	0.66018	D	0.128224121499909	0.47782	2.999228	0.26008128902079	0.53223	3.492506	0.999996889514067	0.74766	0.833774	0.99917	0	0.610034	0.51514	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	4.157000	0.57925	6.015000	0.52706	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.932	0.88919	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1639.33	45	chr12	47978057	.	C	A	1639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.798;DP=756;ExcessHet=0;FS=3.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.24;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G,SENP1:NM_001267595:exon5:c.A238G:p.S80G	.	429	1056	37	0	0	37	0.0172173	.	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.019022	0.017544	0.000000	0.017241	0.015244	0.007576	0.02632	829.33	29	chr12	48088943	.	T	C	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.971;DP=682;ExcessHet=0;FS=11.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.863;SOR=0.103	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1178	18	0	1	0
chr12	48149772	48149772	G	A	exonic	ASB8	.	nonsynonymous SNV	ASB8:NM_001319297:exon4:c.C461T:p.P154L,ASB8:NM_024095:exon4:c.C461T:p.P154L,ASB8:NM_001319296:exon5:c.C461T:p.P154L,ASB8:NM_001319298:exon5:c.C278T:p.P93L,ASB8:NM_001319299:exon5:c.C278T:p.P93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.182134530313	.	.	3.295e-05	0	0	0	0.0002	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs747952969	1.642e-05	1.71e-05	1.634e-05	1.65e-05	3.478e-05	1.111e-05	9.33e-06	9.24e-06	5.03e-06	0	0	0	0	9.36e-05	0	1.169e-05	4.967e-05	3.478e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.42e-05	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	-0.49	0.70365	T	-8.95	0.97995	D	0.915	0.91736	0.283	0.87288	D	0.593	0.85473	D	10	0.96019	0.95419	D	0.182135	0.85601	D	0.743	0.91112	0.888	0.97226	0.883423673164	0.88228	0.8838265066689126	0.88350	1.30551478691	0.83116	0.861331403255	0.91308	D	0.248156	0.61791	T	0.311055	0.83823	D	0.305887	0.88467	D	0.940361678600311	0.61264	D	0.966803	0.87909	D	0.8694105	0.88814	0.76326656	0.86014	0.8694105	0.88816	0.76326656	0.86015	-9.649	0.71784	D	.	.	0.973	0.90412	P	.;.	.;.	5.900187	0.93996	33	0.99891307217815595	0.96513	0.99220	0.93002	D	AEFGBI	0.892830	0.83016	D	0.873684894926556	0.90412	10.39238	0.804113756382187	0.90076	10.24655	0.999999999794913	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	9.262000	0.94771	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.394	0.90436	650	0.62973	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2788.33	34	chr12	48149772	.	G	A	2788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=906;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.859;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	18	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.017663	0.017544	0.000000	0.025862	0.015244	0.007576	0.02632	1032.33	34	chr12	48203268	.	T	G	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=898;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-0.998;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr12	48660458	48660458	C	T	exonic	KANSL2	.	nonsynonymous SNV	KANSL2:NM_017822:exon8:c.G1135A:p.V379M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0348609923297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.039	0.51112	D	0.996	0.68779	D	0.931	0.66596	D	0.000466	0.44119	D	0.192669	0.951107	0.81001	D	0.805	0.20218	L	1.3	0.35590	T	-0.14	0.09135	N	0.393	0.43417	-0.8725	0.50341	T	0.188	0.53812	T	10	0.23360261	0.40382	T	0.034861	0.55958	D	0.115	0.32236	0.204	0.11936	0.331876078066	0.32801	0.27392713795241186	0.27305	1.01416887604	0.74877	0.744563817978	0.73643	T	0.017187	0.14063	T	-0.126513	0.32061	T	-0.419503	0.31132	T	0.737727498532262	0.42615	D	0.940706	0.77799	D	0.0885309	0.20655	0.08770444	0.20404	0.0885309	0.20654	0.08770444	0.20403	-4.947	0.36259	T	.	.	0.128	0.27283	B	.;.	.;.	4.524125	0.70963	25.6	0.9975117738457181	0.84305	0.98056	0.79226	D	AEFBI	0.645705	0.62150	D	0.483288542753927	0.66114	4.908482	0.539686551170747	0.70683	5.541349	0.889934846232813	0.25824	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.514000	0.66760	7.590000	0.61220	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.015	0.89158	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2962.33	33	chr12	48660458	.	C	T	2962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.86;DP=822;ExcessHet=0;FS=1.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.456;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr12	48776246	48776246	A	G	exonic	ADCY6	.	nonsynonymous SNV	ADCY6:NM_015270:exon8:c.T1640C:p.I547T	.	63	1441	18	0	0	18	0.0062069	.	.	.	725113	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.911	.	0.0022	0.00359425	0.0035	0.0006	0.0011	0	0.0005	0.0028	0.0033	0.0130	0.0033247	514	154602	rs143114060	0.0033	0.0033	0.0030	0.0037	0.0131	0.0033	0.0032	0.0125	0.0123	0.0006	0.0011	0.0006	0	0.0006	0.0062	0.0031	0.0030	0.0131	0.0024	0.0024	0.0023	0.0026	0.0122	0.0022	0.0022	0.0097	0.0088	0.0008	0.0164	0.0018	0.0009	0	0.0008	0	0.0033	0.0014	0.0122	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.79672	D	0.000470	0.44119	D	0.141057	1	0.81001	D	2.625	0.76847	M	-1.93	0.84842	D	-4.25	0.76414	D	0.976	0.98840	0.528	0.90932	D	0.708	0.89951	D	10	0.022234172	0.00550	T	.	.	.	0.911	0.97624	.	.	0.970207164534	0.96988	0.8767929921298814	0.87646	1.08563880484	0.77273	0.711991071701	0.68882	T	0.841054	0.96293	D	0.115786	0.65946	D	0.404573	0.92261	D	0.0417149374962842	0.04002	T	0.989001	0.96320	D	0.44159785	0.63505	0.48273897	0.70051	0.441327	0.63488	0.49944356	0.71060	-11.022	0.79779	D	0.8774340125879654	0.93625	0.700	0.72971	P	.;.;.	.;.;.	4.906929	0.80697	27.4	0.99835523555506422	0.91628	0.98756	0.86450	D	AEFDGBI	0.943737	0.94995	D	0.676368237402782	0.78085	6.800873	0.612517382517976	0.75850	6.383716	0.999999995425091	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.0	4.0	0.45673	9.252000	0.94679	9.313000	0.79976	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.319	0.54298	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.014620	0.050000	0.000000	0.006098	0.007576	0.05263	3440.83	41	chr12	48776246	.	A	G	3440.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.18;DP=913;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.717;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	17	0	2	0
chr12	48858093	48858093	C	T	exonic	RND1	.	nonsynonymous SNV	RND1:NM_014470:exon5:c.G602A:p.R201Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.024811472661	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0	0	0.0002717	42	154602	rs200101480	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	8.961e-05	0.0007	0.0010	0	0	0.0026	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	7.217e-05	0	0.0005	0.0012	0	0	0.0068	0.0002	0.0009	0	0.175	0.22486	T	0.13	0.34716	T	0.994	0.66517	D	0.885	0.62825	P	0.031446	0.25166	N	0.425376	0.999998	0.58761	D	1.345	0.33447	L	3.05	0.37910	T	-1.63	0.39119	N	0.084	0.06059	-1.0045	0.28607	T	0.142	0.46220	T	10	0.07324538	0.11041	T	0.024811	0.47795	T	0.072	0.21020	.	.	0.601498174721	0.59831	0.5069374478026153	0.50615	1.5613591084	0.88044	0.421754091978	0.28078	T	0.088845	0.38246	T	-0.350869	0.04673	T	-0.379865	0.35738	T	0.135527089238167	0.15884	T	0.941106	0.78031	D	0.15576388	0.35186	0.096693255	0.22984	0.15576388	0.35186	0.096693255	0.22983	-5.818	0.44731	T	.	.	0.140	0.31048	B	.;.	.;.	4.316955	0.66033	24.9	0.99718965297854045	0.81914	0.90454	0.51643	D	AEFBHCI	0.600596	0.59317	D	0.362796012206355	0.59418	4.121098	0.363501344984016	0.59324	4.109404	0.99997596485433	0.50053	0.631515	0.41029	0	0.659037	0.61890	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.1	4.19	0.48645	3.341000	0.51869	4.013000	0.41180	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.997000	0.79791	0.1492:0.8508:0.0:0.0	14.426	0.66788	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1348.33	35	chr12	48858093	.	C	T	1348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.602;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	18	0	1	0
chr12	48905022	48905022	G	A	exonic	CCDC65	.	nonsynonymous SNV	CCDC65:NM_033124:exon2:c.G209A:p.R70Q	Ciliary dyskinesia, primary, 27, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	.	568052	Inborn_genetic_diseases|Primary_ciliary_dyskinesia_27	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014215,MedGen:C3809701,OMIM:615504,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.0153800980824	.	.	2.476e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs772291948	2.942e-05	2.941e-05	2.178e-05	3.713e-05	0.0005	2.217e-05	1.97e-05	0.0001	7.541e-05	0	0	0	2.519e-05	7.488e-05	0.0005	2.159e-05	0.0001	4.639e-05	1.315e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.423e-05	0	1.47e-05	0	0	0.006	0.91255	D	0.021	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.064020	1	0.81001	D	.	.	.	0.95	0.55608	T	-3.52	0.68412	D	0.87	0.86725	-0.2540	0.76251	T	0.387	0.74202	T	10	0.5086362	0.61966	D	0.01538	0.36078	T	0.331	0.65325	0.562	0.68229	0.252681307341	0.24864	0.26475200721778475	0.26388	0.354352016501	0.37210	0.486807882786	0.36996	T	0.141231	0.47618	T	0.0967204	0.63937	D	-0.00199025	0.70206	D	0.980159997940063	0.73207	D	0.892511	0.62902	D	0.45200983	0.64168	0.3541702	0.60966	0.45200983	0.64169	0.3541702	0.60965	-7.654	0.59216	D	.	.	0.139	0.48593	B	.;.;.	.;.;.	5.186493	0.86974	29.1	0.99957836183004622	0.99986	0.93856	0.59389	D	AEFDGBI	0.641234	0.61864	D	0.815168753804776	0.87046	9.084591	0.751394395210542	0.86259	8.833001	0.999998864848252	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.0	5.0	0.66209	7.508000	0.80566	11.719000	0.94784	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.608	0.87944	579	0.69780	.;Dynein regulatory complex protein 1/2, N-terminal;Dynein regulatory complex protein 1/2, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1451.33	33	chr12	48905022	.	G	A	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=745;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.14;SOR=0.867	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	49033018	49033018	G	C	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C11687G:p.S3896C	Kabuki syndrome 1, Autosomal dominant	33	1486	1	2	0	5	0.00167954	.	.	.	3045043	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.347	0.324754731464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204083573	4.288e-06	4.104e-06	4.231e-06	4.347e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	2.801e-05	0	0	0	0.0002	2.78e-06	0	1.262e-05	6.585e-06	6.572e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.65419	D	.	.	.	0.698	0.41805	P	0.159	0.34693	B	0.248048	0.03628	N	1.732920	0.995513	0.23271	N	0	0.06538	N	-2.84	0.91305	D	-1.09	0.28290	N	0.258	0.29197	-0.2824	0.75475	T	0.541	0.83065	D	10	0.19795388	0.35747	T	0.324755	0.91579	D	0.347	0.66863	.	.	0.265735104816	0.26182	0.5319623093396836	0.53121	0.561950777347	0.52692	0.403527736664	0.25560	T	0.054626	0.29777	T	-0.0289231	0.47574	T	-0.156778	0.58640	T	0.207693964242935	0.20832	T	0.421758	0.11220	T	0.105398566	0.24921	0.0894729	0.20926	0.105398566	0.24920	0.0894729	0.20925	-8.792	0.66348	D	.	.	0.116	0.23325	B	.	.	3.333815	0.45906	22.2	0.8065163240212736	0.13304	0.95545	0.65148	D	AEFDBCI	0.408641	0.48024	N	-0.0112850472618738	0.41345	2.471307	0.0851921491076589	0.43803	2.674564	0.999999994477489	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	3.435000	0.52611	0.000000	0.13247	0.672000	0.70159	0.953000	0.33222	0.988000	0.31051	0.875000	0.41745	0.0:0.0:1.0:0.0	17.378	0.87288	400	0.82730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2375.33	76	chr12	49033018	.	G	C	2375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=1378;ExcessHet=0;FS=7.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-2.169;SOR=1.227	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2389,0,2184	18	0	1	0
chr12	49037926	49037926	C	T	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon35:c.G9430A:p.A3144T	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328809	Kabuki_syndrome|not_specified|KMT2D-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.253009123971	.	.	3.035e-05	0	0.0002	0	0	2.747e-05	0	0	1.29e-05	2	154602	rs752428122	1.24e-05	1.3e-05	1.232e-05	1.247e-05	0.0003	7.75e-06	6.39e-06	9.103e-05	6.702e-05	0	0.0002	0	5.086e-05	0	0.0003	4.514e-06	1.665e-05	0	3.942e-05	3.94e-05	1.284e-05	6.724e-05	0.0003	1.715e-05	1.129e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0	0.129	0.26852	T	.	.	.	0.043	0.21573	B	0.017	0.18140	B	0.043619	0.23722	N	0.212531	1	0.08975	N	0	0.06538	N	-1.62	0.82347	D	-1.29	0.32387	N	0.044	0.01658	-0.7853	0.56002	T	0.253	0.62292	T	10	0.03325048	0.01496	T	0.253009	0.89194	D	0.178	0.44724	0.123	0.02942	0.082315109003	0.07666	0.12279468932725274	0.12205	0.422470740977	0.42747	0.301165550947	0.10574	T	0.043925	0.26654	T	-0.368594	0.03666	T	-0.507557	0.21566	T	0.0376071967184544	0.03262	T	0.525647	0.17278	T	0.022370396	0.00896	0.042457864	0.05062	0.022370396	0.00895	0.042457864	0.05062	-4.455	0.30296	T	.	.	0.061	0.01179	B	.	.	1.579542	0.20215	14.64	0.76168846912515853	0.11360	0.11652	0.16774	N	AEFDBCI	0.035248	0.04504	N	-0.813734449425228	0.12959	0.6351492	-0.709310308876279	0.16729	0.8863369	0.0900603874635109	0.16100	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	2.58	0.30011	0.141000	0.15897	0.245000	0.16356	-0.171000	0.11205	0.003000	0.16062	0.400000	0.24706	0.964000	0.52637	0.1436:0.6407:0.1388:0.0769	5.576	0.16506	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1195.33	33	chr12	49037926	.	C	T	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=756;ExcessHet=0;FS=1.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.21;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	49042788	49042788	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon27:c.C5735T:p.P1912L	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1536500	Kabuki_syndrome_1|Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome|Kabuki_syndrome	MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.610	0.345858416333	.	.	1.657e-05	0	0	0	0	1.5e-05	0	6.061e-05	3.84e-05	1	26028	rs749783824	6.842e-06	6.84e-06	4.084e-06	9.627e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0.0002	4.497e-06	1.656e-05	2.319e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.104	0.29959	T	.	.	.	0.997	0.70673	D	0.84	0.60170	P	0.002630	0.36208	N	0.000000	0.999999	0.58761	D	2.285	0.65182	M	-1.77	0.83660	D	-6.06	0.89833	D	0.638	0.65074	0.302	0.87595	D	0.616	0.86422	D	10	0.7995937	0.79381	D	0.345858	0.92139	D	0.610	0.84719	0.241	0.17371	0.625204814301	0.62215	0.22670270785083646	0.22585	1.35917458344	0.84270	0.58642333746	0.50990	T	0.25923	0.63048	T	0.152648	0.69516	D	0.0783455	0.75467	D	0.954312145709991	0.64235	D	0.848915	0.53103	T	0.14616565	0.33473	0.25241804	0.50871	0.14616565	0.33473	0.25241804	0.50870	-4.447	0.30189	T	.	.	0.093	0.13923	B	.	.	3.521357	0.49360	22.8	0.95947738964115592	0.28261	0.98974	0.89400	D	AEFDBI	0.640133	0.61793	D	0.696157169304159	0.79380	7.065573	0.701051458426681	0.82458	7.772097	0.999990181405258	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.439000	0.66307	11.828000	0.97436	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.148:0.852:0.0	14.473	0.67107	380	0.83728	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2708.33	69	chr12	49042788	.	G	A	2708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.594;DP=1127;ExcessHet=0;FS=4.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.224;SOR=1.043	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr12	49053066	49053066	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon9:c.C961T:p.R321W	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1486497	Choanal_atresia-athelia-hypothyroidism-delayed_puberty-short_stature_syndrome|Kabuki_syndrome_1|Kabuki_syndrome	MONDO:MONDO:0035651,MedGen:C5680310,OMIM:620186,Orphanet:589856|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.671	0.435996540541	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1204392134	6.157e-06	6.84e-06	6.807e-06	5.501e-06	2.236e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.007829	0.31171	N	0.000000	0.888607	0.35903	D	2.82	0.82106	M	-1.97	0.85173	D	-5.94	0.89093	D	0.729	0.73015	0.920	0.95955	D	0.797	0.93142	D	10	0.9135523	0.90718	D	0.435997	0.94073	D	0.671	0.87820	0.731	0.86460	0.718266804153	0.71579	0.5528346669157204	0.55209	0.192949307211	0.21626	0.841150760651	0.88269	D	0.273662	0.64612	T	0.183571	0.72371	D	0.108776	0.77491	D	0.930745661258698	0.59565	D	0.955504	0.83071	D	0.30907804	0.53706	0.3915072	0.63920	0.30907804	0.53706	0.3915072	0.63920	-10.383	0.76172	D	.	.	0.699	0.72898	P	.	.	3.530062	0.49522	22.8	0.96634192683739983	0.30527	0.96842	0.71235	D	AEFDGBI	0.688873	0.64973	D	0.659814092234319	0.77004	6.592288	0.547014933857647	0.71191	5.617146	0.99999998873279	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.73	0.59485	3.613000	0.53894	6.631000	0.56152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.0:0.0:0.8392:0.1608	13.123	0.58752	357	0.85079	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2993.33	36	chr12	49053066	.	G	A	2993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=895;ExcessHet=0;FS=3.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.063;SOR=0.985	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1417	18	0	1	0
chr12	49330370	49330370	T	A	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.T1525A:p.C509S	.	413	1090	18	1	0	20	0.00909091	.	.	.	3185208	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00367319463979	0.0049	0.00219649	0.0066	0.0012	0.0022	0	0.0038	0.0092	0.0055	0.0071	0.0063971	989	154602	rs143183472	0.0064	0.0064	0.0063	0.0065	0.0070	0.0063	0.0063	0.0069	0.0068	0.0011	0.0028	0.0076	0	0.0050	0.0061	0.0070	0.0062	0.0068	0.0047	0.0047	0.0046	0.0048	0.0074	0.0044	0.0043	0.0069	0.0067	0.0007	0.0055	0.0034	0.0078	0.0004	0.0039	0.0102	0.0074	0.0076	0.0066	0.206	0.19927	T	0.672	0.08419	T	0.103	0.25884	B	0.058	0.26451	B	0.061803	0.02148	N	1.798600	1	0.08975	N	1.83	0.48079	L	.	.	.	-3.45	0.67589	D	0.274	0.33250	-1.0260	0.21756	T	0.051	0.21883	T	9	0.0038397908	0.00072	T	0.003673	0.08464	T	0.031	0.07369	0.196	0.10839	0.0884992946249	0.08302	0.16855422563779376	0.16775	0.40177712188	0.41149	0.30153298378	0.10629	T	0.033212	0.22818	T	-0.512008	0.00489	T	-0.497852	0.22571	T	0.0104049088942349	0.00143	T	0.620638	0.23835	T	0.11874252	0.27970	0.112878084	0.27239	0.11874252	0.27970	0.112878084	0.27238	0.29	0.00261	T	.	.	0.155	0.34405	B	.;.;.	.;.;.	-0.283965	0.02689	0.348	0.63729231830076694	0.07301	0.10349	0.15880	N	AEFDGBI	0.149105	0.27313	N	-1.28127558798654	0.03900	0.1751053	-1.38590147664022	0.03401	0.1585979	0.999961794418099	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.14	-5.91	0.02080	-0.633000	0.05581	-3.972000	0.02419	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.4188:0.3947:0.1865	7.711	0.27843	202	0.92131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.008152	0.000000	0.000000	0.008621	0.006098	0.011364	0.02632	1561.33	39	chr12	49330370	.	T	A	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=1201;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.76;SOR=0.58	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	18	0	1	0
chr12	49349614	49349614	G	A	exonic	DNAJC22	.	nonsynonymous SNV	DNAJC22:NM_024902:exon2:c.G742A:p.G248R,DNAJC22:NM_001304944:exon3:c.G742A:p.G248R	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0452927320114	0.0008	0.000399361	0.0013	0.0003	0.0007	0	0	0.0016	0.0022	0.0023	0.0012872	199	154602	rs146992631	0.0017	0.0017	0.0017	0.0017	0.0023	0.0017	0.0016	0.0021	0.0020	0.0001	0.0004	0	0	0.0001	0.0021	0.0020	0.0014	0.0023	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0001	0	0	0	0	0.0017	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.06	0.23119	B	0.019	0.18783	B	0.000001	0.84330	N	0.095855	0.999985	0.54805	D	2.515	0.73286	M	0.92	0.44461	T	-1.13	0.29114	N	0.75	0.74918	-0.9512	0.40765	T	0.116	0.40986	T	10	0.02836591	0.00969	T	0.045293	0.61911	D	0.205	0.49236	0.438	0.49157	0.396645960531	0.39282	0.621036417418012	0.62036	0.0455992530487	0.04953	0.468217849731	0.34435	T	0.045254	0.27065	T	-0.301966	0.08476	T	-0.212387	0.53467	T	0.119912397129018	0.14421	T	.	.	.	0.41996384	0.62089	0.48152873	0.69977	0.41996384	0.62090	0.48152873	0.69978	-5.4	0.40919	T	.	.	0.168	0.36966	B	.;.	.;.	3.948743	0.57831	23.9	0.99868979853534001	0.94726	0.96194	0.67967	D	AEFBI	0.775931	0.70919	D	-0.234119741038968	0.31741	1.78294	-0.204252931669243	0.31382	1.775566	0.999999873718164	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.567892	0.33627	0	.	.	4.89	4.0	0.45673	5.312000	0.65579	6.600000	0.56053	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0917:0.0:0.9082:0.0	11.110	0.47447	200	0.92234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1571.33	34	chr12	49349614	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=755;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.34;SOR=0.527	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr12	49524718	49524718	G	A	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon12:c.G1148A:p.R383Q,SPATS2:NM_023071:exon13:c.G1148A:p.R383Q,SPATS2:NM_001293285:exon14:c.G1148A:p.R383Q	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00375207458265	0.0048	0.00359425	0.0039	0.0044	0.0042	0	0.0050	0.0047	0.0088	0.0011	0.0038033	588	154602	rs143789908	0.0048	0.0048	0.0049	0.0047	0.0052	0.0047	0.0047	0.0051	0.0051	0.0044	0.0042	0.0088	2.519e-05	0.0046	0.0017	0.0052	0.0052	0.0011	0.0051	0.0051	0.0050	0.0052	0.0077	0.0048	0.0047	0.0066	0.0062	0.0047	0.0219	0.0077	0.0075	0	0.0035	0.0034	0.0052	0.0099	0.0008	0.36	0.11919	T	0.261	0.22962	T	0.96	0.55278	D	0.44	0.45726	B	0.000388	0.44960	D	0.234543	0.999751	0.48800	D	2.28	0.64929	M	.	.	.	-0.64	0.18670	N	0.429	0.47580	-0.9193	0.45648	T	0.155	0.48687	T	9	0.009613633	0.00216	T	0.003752	0.08713	T	0.137	0.36984	.	.	0.21174354426	0.20776	0.5445009463868015	0.54376	0.741676481554	0.63296	0.362670600414	0.19775	T	0.117906	0.43834	T	-0.283765	0.10272	T	-0.177356	0.56766	T	0.0314926761147349	0.02225	T	0.738026	0.35555	T	0.09563661	0.22512	0.056884747	0.10243	0.09563661	0.22512	0.056884747	0.10243	-4.718	0.33622	T	.	.	0.126	0.29116	B	.;.;.	.;.;.	3.642353	0.51655	23.1	0.99893835046291779	0.96742	0.93326	0.57918	D	AEFBI	0.351520	0.44460	N	0.310861000883812	0.56706	3.835724	0.344151318560756	0.58157	3.984571	0.658066638782078	0.22240	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.51	4.62	0.56946	4.672000	0.61290	6.651000	0.56216	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0825:0.0:0.9175:0.0	12.261	0.53966	170	0.93412	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1488.33	33	chr12	49524718	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=726;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.622;SOR=1.007	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	49604316	49604316	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon2:c.T319G:p.W107G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0598730629653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001172	0.39978	N	0.000000	0.987173	0.40547	D	2.695	0.78878	M	-1.07	0.76948	T	-13.0	0.99878	D	0.767	0.77413	0.177	0.85520	D	0.587	0.85184	D	9	0.86440694	0.85676	D	0.059873	0.67811	D	0.563	0.82118	0.677	0.81496	0.750485479121	0.74823	0.24589231387062935	0.24503	0.793989741297	0.65953	0.465345591307	0.34043	T	0.221814	0.58549	T	0.365567	0.87671	D	0.287335	0.87512	D	0.99968421459198	0.98483	D	0.686731	0.29555	T	0.8218973	0.85348	0.8730079	0.93074	0.8218973	0.85349	0.8730079	0.93074	-1.963	0.03044	T	.	.	0.659	0.73946	P	.;.	.;.	4.327802	0.66294	24.9	0.97838091548784545	0.36305	0.98255	0.80978	D	AEFDGI	0.509300	0.53882	D	0.647010613287773	0.76176	6.438263	0.631524743119864	0.77241	6.641619	0.949084542057079	0.27830	0.554377	0.28877	0	0.588066	0.40923	0	0.408882	0.06424	0	0.645665	0.59343	0	.	.	5.56	5.56	0.83678	4.745000	0.61820	9.246000	0.79455	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.418	0.54839	240	0.90628	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	35	chr12	49604316	.	A	C	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.006;DP=702;ExcessHet=0;FS=12.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.011;SOR=2.041	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	18	0	1	0
chr12	49648294	49648294	G	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_198900:exon21:c.C2422T:p.R808W,FMNL3:NM_001367835:exon22:c.C2575T:p.R859W,FMNL3:NM_175736:exon22:c.C2575T:p.R859W	.	422	1099	1	0	0	1	0.000454752	.	.	.	4144310	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.00966890913271	7.8e-05	.	4.978e-05	0.0002	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs371810582	2.053e-05	2.121e-05	2.315e-05	1.788e-05	0.0002	1.456e-05	1.264e-05	3.767e-05	2.663e-05	2.989e-05	0	0	0	0	0.0002	1.349e-05	9.939e-05	8.121e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	2.41e-05	2.18e-06	8.2e-07	.	.	2.41e-05	0	0	0	0	0	0	0	0.0005	0	0.04	0.43085	D	0.145	0.34009	T	0.994	0.66517	D	0.653	0.52567	P	0.000011	0.62929	N	0.064498	0.999999	0.58761	D	1.205	0.30389	L	2.23	0.18083	T	-3.89	0.72932	D	0.535	0.61764	-1.1042	0.03620	T	0.083	0.32614	T	10	0.3671947	0.53194	T	0.009669	0.25267	T	0.107	0.30369	.	.	0.499921029546	0.49629	0.6198020507438934	0.61913	1.23893096804	0.81535	0.577918827534	0.49793	T	0.024336	0.18409	T	-0.273969	0.11317	T	-0.394645	0.34009	T	0.437232226133347	0.30327	T	0.963804	0.88706	D	.	.	.	.	.	.	.	.	-11.784	0.83782	D	.	.	0.383	0.58588	A	.;.;.	.;.;.	5.496065	0.91532	32	0.99928247441539664	0.99222	0.93959	0.59690	D	AEFDGBI	0.815757	0.73766	D	0.358737637983148	0.59202	4.097746	0.359200637096758	0.59062	4.081178	0.99999998784403	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.79	4.79	0.60909	1.328000	0.33364	6.735000	0.56468	0.676000	0.76740	0.221000	0.24547	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.139	0.86625	297	0.88113	.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	913.33	42	chr12	49648294	.	G	A	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.06;DP=769;ExcessHet=0;FS=3.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.479;SOR=0.394	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1480	18	0	1	0
chr12	49797324	49797324	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C536T:p.A179V,NCKAP5L:NM_001368048:exon9:c.C536T:p.A179V	.	412	1103	7	0	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	.	0.0002	0.00239617	0.0013	0	0.0002	0	0	6.724e-05	0.0013	0.0085	0.0010026	155	154602	rs372380277	0.0005	0.0005	0.0002	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0016	4.318e-05	0.0003	0.0068	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	7.22e-05	0	0	0.0003	0	0	0.0034	5.883e-05	0	0.0075	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999506	0.47320	D	.	.	.	-0.3	0.67874	T	-1.3	0.32590	N	0.249	0.28146	-0.2536	0.76262	T	0.367	0.72750	T	9	0.0070910156	0.00161	T	.	.	.	0.215	0.50805	.	.	0.465294880039	0.46155	0.5774319791458065	0.57672	0.450330495102	0.44799	0.718104481697	0.69771	T	.	.	.	-0.277273	0.10960	T	-0.166214	0.57788	T	0.0822954001622732	0.10278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44872	B	.	.	4.637716	0.73806	26.1	0.99917529624415835	0.98518	0.98860	0.87816	D	AEFDGBI	0.719930	0.67066	D	0.569269807903639	0.71262	5.624357	0.557600659998608	0.71927	5.730133	0.999999999999927	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	7.291000	0.78076	9.866000	0.82092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	16.346	0.82968	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1135.33	39	chr12	49797324	.	G	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=762;ExcessHet=0;FS=0.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.277;SOR=0.9	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr12	49797342	49797342	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C518T:p.P173L,NCKAP5L:NM_001368048:exon9:c.C518T:p.P173L	.	405	1113	4	0	0	4	0.00179372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0167115053929	.	0.00119808	0.0008	0.0001	0	0	0	0.0005	0.0014	0.0032	0.0005369	83	154602	rs569641492	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	2.989e-05	4.484e-05	0.0028	2.519e-05	1.914e-05	0.0018	8.097e-05	0.0004	0.0023	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0029	0	0	0	7.353e-05	0.0009	0.0019	0.005	0.63226	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.870105	0.28220	N	.	.	.	0.86	0.46777	T	-1.32	0.32991	N	0.235	0.26475	-1.0487	0.14761	T	0.061	0.25310	T	9	0.007937312	0.00180	T	0.016712	0.38094	T	0.049	0.13647	.	.	0.0934897674506	0.08844	0.4862114763229234	0.48541	0.0817337950663	0.09202	0.579079866409	0.49955	T	.	.	.	-0.534607	0.00361	T	-0.546251	0.17687	T	0.034434857435904	0.02711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10352	B	.	.	1.694139	0.21581	15.26	0.86906148450138743	0.16854	0.80666	0.40245	D	AEFDGBI	0.107275	0.21378	N	-0.485533920443049	0.22555	1.20512	-0.341040248936727	0.26787	1.481902	0.999996422134219	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	3.19	0.35720	1.795000	0.38418	0.710000	0.20927	-0.710000	0.03952	0.992000	0.37556	0.996000	0.32793	0.029000	0.12982	0.1983:0.0:0.621:0.1807	4.359	0.10628	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	495.33	39	chr12	49797342	.	G	A	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-1.165;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr12	49838825	49838825	C	T	exonic	BCDIN3D	.	nonsynonymous SNV	BCDIN3D:NM_181708:exon2:c.G425A:p.R142Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00813271893478	0.0032	0.00299521	0.0042	0.0011	0.0010	0	0.0024	0.0052	0.0033	0.0071	0.0041267	638	154602	rs145982210	0.0048	0.0048	0.0049	0.0047	0.0061	0.0047	0.0047	0.0057	0.0055	0.0006	0.0019	0.0021	2.519e-05	0.0022	0.0019	0.0054	0.0041	0.0061	0.0032	0.0032	0.0037	0.0028	0.0054	0.0030	0.0029	0.0049	0.0047	0.0010	0	0.0022	0.0023	0	0.0013	0.0034	0.0054	0.0014	0.0050	0.542	0.06757	T	0.572	0.08746	T	0.149	0.27956	B	0.008	0.13708	B	0.000593	0.43095	N	0.241574	1	0.08975	N	1.805	0.47535	L	0.89	0.45636	T	-0.79	0.21860	N	0.08	0.05542	-1.0480	0.14960	T	0.044	0.19070	T	10	0.004988134	0.00107	T	0.008133	0.21547	T	0.029	0.06676	.	.	0.33340067248	0.32956	0.6479157828531507	0.64726	0.150802290062	0.17009	0.33979767561	0.16408	T	0.006067	0.05507	T	-0.524699	0.00413	T	-0.523441	0.19946	T	0.00949717499429595	0.00122	T	0.780122	0.41468	T	0.15161437	0.34457	0.085644804	0.19788	0.15161437	0.34456	0.085644804	0.19788	-5.284	0.39784	T	.	.	0.101	0.17488	B	.	.	3.328324	0.45808	22.2	0.99807371135069456	0.89174	0.46601	0.27796	N	AEFDGBCI	0.056253	0.10384	N	-0.478164655997806	0.22798	1.219837	-0.393901366503099	0.25177	1.383074	0.999486479690278	0.39952	0.712529	0.81865	0	0.69481	0.67340	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.42	3.58	0.40133	2.039000	0.40815	4.844000	0.45312	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1535:0.5965:0.1654:0.0847	4.435	0.10970	292	0.88363	Bin3-type S-adenosyl-L-methionine binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.000000	0.003497	0.000000	0.000000	0.003049	0.000000	0.02632	1637.33	34	chr12	49838825	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.62;DP=820;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.216;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr12	49973423	49973423	G	A	exonic	AQP6	.	nonsynonymous SNV	AQP6:NM_001652:exon1:c.G250A:p.A84T	.	422	1098	2	0	0	2	0.000909918	.	.	.	2431839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.901	0.247684740924	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0001	0.0001423	22	154602	rs144408327	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0002	0.0007	2.519e-05	1.91e-05	0	0.0004	8.28e-05	0.0001	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0005	0.0004	4.808e-05	0	0.0008	0.0012	0	0	0	0.0003	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000064	0.52346	D	0.000000	1	0.81001	D	3.87	0.95912	H	-2.74	0.90735	D	-3.96	0.73579	D	0.939	0.94550	1.099	0.99599	D	0.924	0.97483	D	10	0.90110576	0.89472	D	0.247685	0.88979	D	0.901	0.97248	.	.	0.982830986308	0.98263	0.7727530470961391	0.77225	0.821152499585	0.67183	0.547822117805	0.45550	T	0.869028	0.97155	D	0.265872	0.80070	D	0.450107	0.93579	D	0.962903678417206	0.66503	D	0.990763	0.97171	D	0.87976575	0.89647	0.87176394	0.92988	0.87976575	0.89648	0.87176394	0.92988	-7.324	0.56366	T	.	.	0.316	0.61572	B	.;.;.	.;.;.	4.408828	0.68188	25.2	0.99919683473698051	0.98654	0.99335	0.94660	D	AEFGBI	0.843338	0.76037	D	0.920854612201974	0.92744	11.60236	0.732650143526171	0.84857	8.410507	0.999999999998798	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	9.602000	0.97623	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	17.287	0.87031	261	0.89765	Major intrinsic protein, conserved site;Major intrinsic protein, conserved site;Major intrinsic protein, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	33	chr12	49973423	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.866;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.25;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1305	18	0	1	0
chr12	50098750	50098750	C	T	exonic	SMARCD1	.	nonsynonymous SNV	SMARCD1:NM_139071:exon11:c.C1306T:p.R436C,SMARCD1:NM_003076:exon12:c.C1429T:p.R477C	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.201319814301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	0.09	0.61443	T	-7.25	0.94484	D	0.779	0.77978	0.286	0.87338	D	0.536	0.82859	D	10	0.83273304	0.82433	D	0.20132	0.86758	D	0.508	0.78848	0.697	0.83406	0.438345833192	0.43453	0.9058589224171041	0.90558	2.54765427674	0.97855	0.87457382679	0.93217	D	0.602898	0.87299	D	0.295815	0.82630	D	0.187142	0.82405	D	0.99828690290451	0.93725	D	0.981602	0.93790	D	0.79444623	0.83553	0.7803768	0.87052	0.79444623	0.83555	0.7803768	0.87053	-11.396	0.81785	D	0.9179947366042543	0.96366	0.987	0.92711	P	.;.;.	.;.;.	5.903081	0.94007	33	0.99937019763037305	0.99661	0.98245	0.80885	D	AEFGBCI	0.843626	0.76064	D	0.953782562815975	0.94135	12.52725	0.865958216274889	0.93913	12.36912	0.999999999550296	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	5.949000	0.69973	5.959000	0.51789	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.343	0.94341	220	0.91454	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	211.33	34	chr12	50098750	.	C	T	211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=718;ExcessHet=0;FS=36.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=0.198;SOR=5.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr12	50167240	50167240	G	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon1:c.C58T:p.R20C,CERS5:NM_001331071:exon1:c.C58T:p.R20C,CERS5:NM_147190:exon1:c.C58T:p.R20C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	.	0.0041	0.00179712	0.0050	0.0011	0.0020	0	0.0146	0.0069	0.0111	0.0010	0.0046959	726	154602	rs143484198	0.0066	0.0066	0.0068	0.0064	0.0074	0.0065	0.0064	0.0072	0.0072	0.0008	0.0021	0.0041	0	0.0145	0.0005	0.0074	0.0056	0.0010	0.0048	0.0048	0.0044	0.0053	0.0069	0.0046	0.0044	0.0064	0.0062	0.0010	0	0.0019	0.0049	0	0.0159	0	0.0069	0.0033	0.0010	0.001	0.78490	D	0.009	0.66756	D	0.998	0.73220	D	0.836	0.59919	P	0.000002	0.62929	D	0.056281	0.999994	0.81001	D	2.59	0.75718	M	-1.6	0.82165	D	-4.2	0.75695	D	0.611	0.62781	0.167	0.85343	D	0.581	0.84915	D	10	0.0111991465	0.00246	T	.	.	.	0.683	0.88396	.	.	0.858982934815	0.85761	0.7218436396535616	0.72128	1.16102251393	0.79485	0.905197739601	0.96996	D	0.473842	0.80554	T	-0.104833	0.35624	T	0.082188	0.75723	D	0.0336735412076743	0.02583	T	0.981319	0.94749	D	0.4527413	0.64215	0.4742083	0.69527	0.4527413	0.64216	0.4742083	0.69527	-8.345	0.63398	D	.	.	0.370	0.57847	A	.;.	.;.	4.641698	0.73902	26.1	0.9987870641990455	0.95491	0.57530	0.30401	D	AEFBHCIJ	0.613918	0.60143	D	0.428353578924197	0.62986	4.524008	0.285333461132114	0.54683	3.632494	0.999999970740119	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.39	1.5	0.22029	2.958000	0.48838	5.719000	0.49462	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.09:0.0:0.7518:0.1582	7.987	0.29379	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	477.33	36	chr12	50167240	.	G	A	477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=685;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.462;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	18	0	1	0
chr12	50204634	50204634	C	T	exonic	LIMA1	.	nonsynonymous SNV	LIMA1:NM_001113547:exon3:c.G302A:p.R101H,LIMA1:NM_001113546:exon6:c.G782A:p.R261H,LIMA1:NM_016357:exon6:c.G782A:p.R261H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.019569804425	.	.	2.473e-05	0	8.646e-05	0	0	1.5e-05	0	6.061e-05	2.59e-05	4	154602	rs750924872	1.3e-05	1.3e-05	1.497e-05	1.1e-05	0.0002	8.31e-06	6.7e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	1.872e-05	0.0002	9.892e-06	3.312e-05	3.478e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.034	0.44358	D	0.566	0.08930	T	0.107	0.26081	B	0.011	0.18489	B	0.020115	0.27110	N	0.396639	0.994076	0.42152	D	1.94	0.52218	M	-1.57	0.85173	D	-1.03	0.27052	N	0.102	0.15187	-0.3299	0.74136	T	0.459	0.78958	T	10	0.16783726	0.31301	T	0.01957	0.41966	T	0.437	0.74164	0.348	0.34436	0.879558807558	0.87838	0.3237102124862355	0.32284	0.272897204048	0.29797	0.466890186071	0.34254	T	0.093629	0.39250	T	0.0209661	0.54511	T	-0.110806	0.62546	T	0.340558304300877	0.26646	T	0.867913	0.56927	D	0.084447436	0.19546	0.057186205	0.10352	0.084447436	0.19546	0.057186205	0.10352	-6.705	0.51848	T	.	.	0.094	0.18828	B	.;.;.;.;.	.;.;.;.;.	3.657479	0.51945	23.2	0.99733966338292712	0.82975	0.83122	0.42267	D	AEFBI	0.243929	0.36512	N	-0.0299826493366779	0.40500	2.406289	0.156352349063843	0.47480	2.977549	0.999999999324146	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	1.155000	0.31311	5.858000	0.50403	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.688	0.88166	491	0.76657	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	34	chr12	50204634	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.53;DP=745;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.58;SOR=0.762	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1553,0,1296	18	0	1	0
chr12	50222358	50222358	C	G	exonic	LIMA1	.	nonsynonymous SNV	LIMA1:NM_001113546:exon4:c.G293C:p.R98T,LIMA1:NM_016357:exon4:c.G293C:p.R98T	.	426	1094	2	0	0	2	0.000913242	.	.	.	3696443	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0282525129964	.	.	7.413e-05	0	0	0	0	0.0001	0.0011	0	5.82e-05	9	154602	rs779269873	5.951e-05	5.951e-05	5.036e-05	6.875e-05	0.0047	4.882e-05	4.561e-05	0.0033	0.0028	8.961e-05	2.236e-05	0	0	0	0.0047	3.867e-05	0.0002	2.319e-05	6.568e-05	6.562e-05	0.0001	2.687e-05	0.0003	3.515e-05	2.615e-05	0.0001	8.294e-05	0	0	0.0003	0	0	0	0.0068	4.41e-05	0	0	0.008	0.58626	D	0.226	0.50226	T	0.651	0.40707	P	0.084	0.29270	B	0.111192	0.19410	N	0.575995	1	0.81001	D	2.52	0.73523	M	-1.93	0.84842	D	-1.98	0.71042	N	0.461	0.51583	0.046	0.83157	D	0.514	0.81782	D	10	0.18753085	0.34268	T	0.028253	0.50961	D	0.414	0.72479	0.307	0.27806	0.901925520254	0.90095	0.27038369930362355	0.26951	0.505908923053	0.48822	0.356839001179	0.18925	T	0.10517	0.41539	T	-0.0286288	0.47615	T	-0.0812567	0.64811	T	0.193238092533409	0.20034	T	0.763824	0.39073	T	0.12870967	0.30083	0.23511577	0.48747	0.12870967	0.30083	0.23511577	0.48746	-3.735	0.20134	T	.	.	0.126	0.26638	B	.;.;.;.	.;.;.;.	2.525178	0.32641	19.10	0.95588549254570165	0.27307	0.53628	0.29418	D	AEFDGBHCI	0.257610	0.37631	N	0.21231052887358	0.51794	3.358048	0.260677009582937	0.53257	3.49572	0.999999999979833	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.53	4.63	0.57175	0.921000	0.28338	1.370000	0.25949	0.599000	0.40250	0.259000	0.24939	0.875000	0.27637	0.913000	0.44837	0.0:0.9305:0.0:0.0695	14.971	0.70887	498	0.76166	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.023392	0.000000	0.000000	0.000000	0.000000	0.02632	1441.33	33	chr12	50222358	.	C	G	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.217;DP=715;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.763;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	18	0	1	0
chr12	50351825	50351825	G	C	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.C5007G:p.H1669Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.0156942483006	.	.	5.836e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs777452496	2.153e-06	2.736e-06	1.416e-06	2.912e-06	9.296e-07	5.7e-07	1.6e-07	.	.	0	0	8.139e-05	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	3.77	0.03863	T	1.59	0.00660	N	0.045	0.01740	-0.9114	0.46682	T	0.006	0.02131	T	9	0.027505606	0.00895	T	0.015694	0.36562	T	0.002	0.00045	0.255	0.19533	0.0138822411134	0.00435	0.09472742068827465	0.09404	.	.	0.256699353456	0.04506	T	0.001506	0.00951	T	-0.514044	0.00476	T	-0.866106	0.00780	T	0.06730574914381	0.08267	T	0.109389	0.00818	T	0.040140633	0.05673	0.046214662	0.06392	0.040140633	0.05673	0.046214662	0.06391	-0.434	0.00545	T	.	.	0.064	0.02228	B	.;.	.;.	-1.071779	0.00675	0.019	0.26918115280121835	0.01312	0.00033	0.00296	N	AEFDGBI	.	.	.	-1.61955719560529	0.01170	0.05085791	-1.66391704482084	0.01306	0.05890339	0.999704713205664	0.41986	0.553676	0.25195	0	0.588015	0.36545	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.36	-2.18	0.06643	-1.520000	0.02345	-20.000000	0.00162	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1497:0.2581:0.2942:0.2981	0.869	0.01133	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2341.33	57	chr12	50351825	.	G	C	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1460;ExcessHet=0;FS=3.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.655;SOR=0.492	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	0	1	0
chr12	50352005	50352005	-	TG	exonic	FAM186A	.	frameshift insertion	FAM186A:NM_001145475:exon4:c.4826_4827insCA:p.Q1609Hfs*47	.	442	1077	1	1	1	4	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0.0079	0	0	0.0030	0	0	3.84e-05	1	26028	rs776561700	0.0027	0.0027	0.0026	0.0029	0.0026	0.0027	0.0026	0.0026	0.0025	0.0010	0.0020	0.0048	2.961e-05	0.0097	0.0004	0.0026	0.0034	0.0011	0.0011	0.0012	0.0011	0.0011	0.0017	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0009	0.0009	0	0.0017	0	0.0017	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1589.29	128	chr12	50352005	.	C	CTG	1589.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=3606;ExcessHet=0;FS=1.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.18;MQRankSum=-0.159;QD=8.93;ReadPosRankSum=0.642;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:232,0:232:99:.:.:0,120,1800:.	18	0	1	0
chr12	50352008	50352008	-	CTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG	exonic	FAM186A	.	frameshift insertion	FAM186A:NM_001145475:exon4:c.4823_4824insCCAGGCCCTGGGTATCCCTCTCACCCCTCAGCAGGCCCAGGCTCTGGGGATCTCTCTCACCCCTCAGCAG:p.Q1611Lfs*79	.	582	410	248	225	57	755	0.459816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0	0.0125	0	0	0.0056	0	0	0.0001617	25	154602	.	0.0064	0.0050	0.0063	0.0065	0.0071	0.0062	0.0062	0.0068	0.0068	0.0020	0.0042	0.0084	3.71e-05	0.0133	0.0007	0.0071	0.0066	0.0017	0.0038	0.0041	0.0037	0.0039	0.0057	0.0033	0.0031	0.0049	0.0046	0.0008	0	0.0035	0.0029	0	0.0073	0	0.0057	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	105543.0	99	chr12	50352008	.	C	CCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG	105543.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.076;DP=4129;ExcessHet=1.0583;FS=0.624;InbreedingCoeff=0.0256;MLEAC=1;MLEAF=0.026;MQ=57.95;MQRankSum=-2.602;QD=34.02;ReadPosRankSum=-3.599;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:72,0:184:99:0|1:50352008_C_CGCCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG:4336,4577,7579:50352008	18	0	1	0
chr12	50354344	50354344	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G2488A:p.G830S	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00663389857215	0.0018	0.000599042	0.0018	0	0	0	0	0.0015	0	0.0028	0.0004722	73	154602	rs201058635	0.0019	0.0019	0.0019	0.0019	0.0028	0.0019	0.0019	0.0025	0.0024	0.0004	0.0009	0.0010	0	0.0002	0.0026	0.0021	0.0018	0.0028	0.0015	0.0015	0.0014	0.0015	0.0027	0.0013	0.0013	0.0021	0.0019	0.0003	0	0.0027	0.0009	0	0	0.0068	0.0022	0.0019	0.0027	0.351	0.12469	T	0.316	0.19362	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	2.87	0.10386	T	-0.78	0.21644	N	0.055	0.06059	-0.9766	0.35772	T	0.016	0.06664	T	9	0.0044077337	0.00090	T	0.006634	0.17501	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.011531809175436452	0.01113	.	.	0.230228632689	0.01985	T	0.00351	0.02920	T	-0.705759	0.00034	T	-0.791165	0.02133	T	0.00138369030348938	0.00014	T	0.39496	0.09912	T	0.06793707	0.14756	0.08521426	0.19661	0.06793707	0.14756	0.08521426	0.19660	-3.699	0.19304	T	.	.	0.111	0.23535	B	.;.	.;.	1.175748	0.15656	12.01	0.56962480557347295	0.05665	0.02310	0.06631	N	AEFDGBIJ	.	.	.	-1.05392851800565	0.07510	0.3491396	-1.10820249206095	0.07543	0.3672934	0.999979663198991	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.0	0.00009	3	.	.	3.39	-0.495	0.11430	0.431000	0.21163	-0.035000	0.12744	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.351000	0.25682	0.0:0.4418:0.0:0.5582	7.700	0.27785	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004728	0.000000	0.007463	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	2642.33	93	chr12	50354344	.	C	T	2642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=1887;ExcessHet=0;FS=3.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.328;SOR=0.724	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr12	50396459	50396459	A	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon1:c.T26C:p.I9T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00908230438628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25979	T	0.549	0.09457	T	0.025	0.19245	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.86	0.10482	T	-0.82	0.22508	N	0.036	0.10626	-0.9408	0.42489	T	0.015	0.05849	T	9	0.054100126	0.05708	T	0.009082	0.23893	T	0.043	0.11576	0.185	0.09388	0.0138822411134	0.00435	0.005928623130936676	0.00561	.	.	0.474755704403	0.35335	T	0.005312	0.04761	T	-0.368557	0.03668	T	-0.767183	0.02862	T	0.0873320775556339	0.10898	T	0.361264	0.08331	T	0.031973258	0.03136	0.03974185	0.04138	0.031973258	0.03136	0.03974185	0.04137	-3.255	0.13164	T	.	.	0.065	0.02702	B	.;.	.;.	-1.704713	0.00193	0.003	0.96795323545760958	0.31128	0.01059	0.03935	N	AEFBCI	0.058544	0.10992	N	-1.5846716741024	0.01343	0.05851015	-1.72278163550802	0.01040	0.046677	0.999999999836059	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.56	-9.11	0.00607	-3.002000	0.00716	-4.153000	0.02312	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1672:0.0:0.4904:0.3424	5.998	0.18732	317	0.87119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1131.33	45	chr12	50396459	.	A	G	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=729;ExcessHet=0;FS=0.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-2.84;SOR=0.551	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	18	0	1	0
chr12	50453610	50453610	G	A	exonic	LARP4	.	nonsynonymous SNV	LARP4:NM_001352307:exon8:c.G901A:p.V301I,LARP4:NM_001170804:exon9:c.G955A:p.V319I,LARP4:NM_001170808:exon9:c.G955A:p.V319I,LARP4:NM_001330415:exon9:c.G973A:p.V325I,LARP4:NM_001352305:exon9:c.G970A:p.V324I,LARP4:NM_001352306:exon9:c.G925A:p.V309I,LARP4:NM_001352313:exon9:c.G745A:p.V249I,LARP4:NM_001352314:exon9:c.G745A:p.V249I,LARP4:NM_001352318:exon9:c.G745A:p.V249I,LARP4:NM_001352321:exon9:c.G955A:p.V319I,LARP4:NM_001352323:exon9:c.G955A:p.V319I,LARP4:NM_001352325:exon9:c.G955A:p.V319I,LARP4:NM_052879:exon9:c.G955A:p.V319I,LARP4:NM_199188:exon9:c.G952A:p.V318I,LARP4:NM_001352304:exon10:c.G745A:p.V249I,LARP4:NM_001352309:exon10:c.G745A:p.V249I,LARP4:NM_001352310:exon10:c.G745A:p.V249I,LARP4:NM_001352311:exon10:c.G745A:p.V249I,LARP4:NM_001352312:exon10:c.G745A:p.V249I,LARP4:NM_001352324:exon10:c.G745A:p.V249I	.	0	225	1	0	0	1	0.00221729	.	.	.	3701546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00307752121536	0.0003	.	0.0001	0.0001	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs201761805	8.007e-05	8.072e-05	8.307e-05	7.703e-05	0.0001	6.803e-05	6.357e-05	7.688e-05	7.175e-05	2.987e-05	0.0001	0.0001	0	0	0	9.176e-05	9.938e-05	0	7.231e-05	7.22e-05	9.003e-05	5.378e-05	0.0001	3.973e-05	3.128e-05	6.805e-05	5.088e-05	0	0	6.557e-05	0	0	0	0	0.0001	0.0005	0	0.462	0.15613	T	0.242	0.26145	T	0.001	0.11197	B	0.005	0.12992	B	0.000196	0.48115	D	0.137216	0.888122	0.81001	D	0.46	0.12951	N	1.29	0.35775	T	0.33	0.03955	N	0.077	0.07125	-1.0548	0.13093	T	0.036	0.15465	T	10	0.096876174	0.17407	T	0.003078	0.06666	T	0.069	0.20116	.	.	0.414205011594	0.41037	0.5372826245652725	0.53653	0.179474252234	0.20186	0.410066634417	0.26466	T	0.017028	0.13967	T	-0.421748	0.01667	T	-0.574289	0.15058	T	0.0263574533164501	0.01454	T	0.816918	0.55479	T	0.016803	0.00223	0.02254762	0.00277	0.016803	0.00223	0.02254762	0.00277	-4.643	0.33331	T	.	.	0.075	0.08129	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.417575	0.18337	13.68	0.89930236183674817	0.19228	0.75115	0.36764	D	AEFBI	0.120085	0.23409	N	-0.431305848392892	0.24379	1.315898	-0.256327460776551	0.29553	1.656692	6.8912922879589E-4	0.07622	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.89	2.98	0.33575	2.048000	0.40903	3.129000	0.36433	0.618000	0.50648	0.977000	0.34929	0.999000	0.35428	0.997000	0.79791	0.3936:0.0:0.6064:0.0	3.580	0.07498	309	0.87553	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	33	chr12	50453610	.	G	A	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.25;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr12	50686627	50686627	C	T	exonic	DIP2B	.	nonsynonymous SNV	DIP2B:NM_173602:exon12:c.C1496T:p.P499L	Mental retardation, FRA12A type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0123509978257	.	.	5.816e-05	0	0	0	0	3.015e-05	0	0.0003	5.17e-05	8	154602	rs780930249	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0001	1.456e-05	1.264e-05	7.998e-05	6.236e-05	0	0	0	5.038e-05	0	0	1.169e-05	4.968e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.724	0.42429	P	0.289	0.40655	B	0.000000	0.84330	D	0.054140	1	0.81001	D	1.845	0.48678	L	0.91	0.44856	T	-7.79	0.95897	D	0.517	0.54757	-0.8765	0.50036	T	0.122	0.42441	T	10	0.28218013	0.45796	T	0.012351	0.30844	T	0.223	0.52023	.	.	0.0675242888579	0.06100	0.5684852823308566	0.56776	1.02148003621	0.75139	0.613869905472	0.54863	T	0.20692	0.56641	T	-0.264811	0.12342	T	-0.326011	0.41911	T	0.532325207709958	0.33820	D	0.992401	0.97558	D	0.6580543	0.75795	0.60004085	0.76765	0.6580543	0.75796	0.60004085	0.76766	-8.345	0.63398	D	.	.	0.172	0.37820	B	.	.	4.486783	0.70057	25.5	0.99614183365198727	0.74992	0.98403	0.82420	D	AEFDBI	0.840232	0.75755	D	0.428528200564618	0.62996	4.525161	0.481186003707094	0.66746	4.992142	0.999999993854411	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.56	4.56	0.55644	7.834000	0.84963	7.675000	0.64997	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.874	0.88735	225	0.91282	AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	33	chr12	50686627	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=1.19;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	18	0	1	0
chr12	50925241	50925241	C	T	exonic	METTL7A	.	nonsynonymous SNV	METTL7A:NM_014033:exon1:c.C203T:p.P68L	.	435	1086	1	0	0	1	0.000460193	.	.	.	3620566	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00549492589139	0.0002	.	9.897e-05	9.641e-05	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs142438796	7.73e-05	7.73e-05	8.167e-05	7.288e-05	0.0001	6.532e-05	6.136e-05	7.398e-05	6.797e-05	2.987e-05	0.0001	0.0001	0	0	0	8.813e-05	9.934e-05	0	5.913e-05	5.91e-05	6.423e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	6.546e-05	0	0	0	0	0.0001	0.0005	0	0.06	0.37326	T	0.115	0.41573	T	0.004	0.12183	B	0.013	0.16460	B	0.000195	0.48115	D	0.219670	1	0.81001	D	3.16	0.88528	M	1.86	0.24285	T	-5.84	0.88431	D	0.17	0.22742	-1.0193	0.23943	T	0.099	0.36805	T	10	0.20610735	0.36860	T	0.005495	0.14136	T	0.090	0.26093	.	.	0.297031009988	0.29315	0.6422383158487558	0.64158	0.105274594752	0.11901	0.3651009202	0.20126	T	0.076634	0.35466	T	-0.310542	0.07701	T	-0.424169	0.30598	T	0.804244637489319	0.46644	D	0.882612	0.61235	D	0.23585291	0.46427	0.25864547	0.51600	0.23585291	0.46427	0.25864547	0.51599	-6.246	0.48293	T	.	.	0.092	0.13550	B	.;.;.	.;.;.	3.778266	0.54311	23.5	0.99460666523421859	0.65788	0.65597	0.32791	D	AEFDGBHCI	0.746469	0.68883	D	-0.00694477084683687	0.41540	2.48653	-0.000564918774002596	0.39690	2.357207	0.99999999999925	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.665054	0.64577	0	.	.	5.0	5.0	0.66209	3.392000	0.52279	7.574000	0.60786	0.599000	0.40250	0.292000	0.25252	0.996000	0.32793	0.803000	0.37862	0.0:1.0:0.0:0.0	17.838	0.88618	252	0.90114	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1380.33	34	chr12	50925241	.	C	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.512;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr12	50992929	50992929	C	G	exonic	SLC11A2	.	nonsynonymous SNV	SLC11A2:NM_001174130:exon11:c.G1066C:p.G356R,SLC11A2:NM_001379448:exon11:c.G1066C:p.G356R,SLC11A2:NM_000617:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174125:exon12:c.G1165C:p.G389R,SLC11A2:NM_001174126:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174127:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174128:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174129:exon12:c.G1078C:p.G360R,SLC11A2:NM_001379446:exon12:c.G1165C:p.G389R,SLC11A2:NM_001379447:exon12:c.G1078C:p.G360R,SLC11A2:NM_001379455:exon13:c.G1165C:p.G389R	Anemia, hypochromic microcytic, with iron overload 1, Autosomal recessive	.	.	.	.	.	.	.	0.9997	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.998	0.90584	D	0.991	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	-0.48	0.70249	T	-7.85	0.96058	D	0.955	0.97095	0.578	0.91612	D	0.682	0.89003	D	10	0.8964438	0.88998	D	0.107652	0.78383	D	0.776	0.92501	0.681	0.81885	0.951542468893	0.95103	0.9644569325081326	0.96432	1.48017979023	0.86691	0.697722792625	0.66815	T	0.869328	0.97164	D	0.397124	0.89746	D	0.332664	0.89617	D	0.998587489128113	0.94563	D	0.997672	0.99143	D	0.9444972	0.95706	0.9321987	0.97246	0.9444972	0.95706	0.9321987	0.97246	-13.543	0.91942	D	0.8484490429988305	0.91527	0.994	0.95886	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.981431	0.94252	34	0.9992380840021825	0.98917	0.99698	0.98764	D	AEFDGBI	0.963005	0.98477	D	0.950995294932152	0.94025	12.44663	0.850598384972568	0.93051	11.79359	0.999999999999875	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.520000	0.80737	7.630000	0.62690	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:1.0:0.0:0.0	19.053	0.93035	218	0.91525	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	914.33	42	chr12	50992929	.	C	G	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=791;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.936;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	18	0	1	0
chr12	51345841	51345841	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon2:c.G53A:p.R18H	.	397	1115	10	0	0	10	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825	.	0.0060	0.00279553	0.0074	0.0034	0.0038	0	0	0.0123	0	0.0042	0.0035316	546	154602	rs74336876	0.0080	0.0079	0.0083	0.0077	0.0097	0.0079	0.0079	0.0095	0.0095	0.0010	0.0017	0.0003	0.0001	0.0014	0.0018	0.0097	0.0061	0.0034	0.0056	0.0056	0.0059	0.0053	0.0098	0.0053	0.0052	0.0092	0.0089	0.0021	0	0.0041	0	0.0006	0.0009	0	0.0098	0.0066	0.0031	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.86	0.83026	M	-3.57	0.94904	D	-4.4	0.77308	D	0.698	0.70263	0.851	0.95040	D	0.868	0.95614	D	10	0.013401598	0.00284	T	.	.	.	0.825	0.94428	.	.	0.956935441388	0.95647	0.7919676062303795	0.79148	0.648346133805	0.58184	0.641728162766	0.58809	T	0.443304	0.78714	T	0.0683029	0.60641	T	0.334731	0.89704	D	0.0305056942265741	0.02067	T	0.888311	0.61778	D	0.90397924	0.91741	0.82492214	0.89855	0.90397924	0.91742	0.82492214	0.89856	-9.388	0.70160	D	.	.	0.424	0.60857	A	.	.	4.893864	0.80374	27.3	0.9995676482047765	0.99981	0.98788	0.86862	D	AEFDBIJ	0.639327	0.61742	D	0.743883081048087	0.82504	7.779419	0.693340410232827	0.81872	7.629555	0.999999999999775	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	6.517000	0.73669	7.357000	0.58325	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	17.541	0.87744	295	0.88218	Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005629	0.005319	0.006868	0.005882	0.055556	0.000000	0.003086	0.003846	0.02632	872.33	46	chr12	51345841	.	C	T	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=802;ExcessHet=0;FS=1.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=0.195;SOR=0.53	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	51364221	51364221	C	T	exonic	GALNT6	.	nonsynonymous SNV	GALNT6:NM_007210:exon6:c.G949A:p.V317I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00856975828326	.	.	2.471e-05	0	8.64e-05	0	0	1.499e-05	0	6.056e-05	2.59e-05	4	154602	rs539279424	4.72e-05	4.72e-05	4.356e-05	5.088e-05	0.0001	3.794e-05	3.476e-05	7.124e-05	5.482e-05	2.987e-05	0	0	5.038e-05	0	0	4.676e-05	4.968e-05	0.0001	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.494	0.07895	T	0.305	0.20037	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.395	0.12235	N	0.33	0.58323	T	0.01	0.06868	N	0.17	0.18376	-1.0393	0.17526	T	0.088	0.34133	T	9	0.037210256	0.02062	T	0.00857	0.22655	T	0.031	0.07369	.	.	0.214338557667	0.21045	0.20112000924972842	0.20028	0.150839345589	0.17018	0.314584076405	0.12600	T	0.00532	0.04771	T	-0.445612	0.01199	T	-0.641199	0.09581	T	0.0350067581286933	0.02809	T	0.180982	0.01814	T	0.018777031	0.00400	0.026151756	0.00689	0.018777031	0.00400	0.026151756	0.00689	-3.435	0.15532	T	.	.	0.07	0.03479	B	.;.	.;.	1.261124	0.16590	12.64	0.96209416544094961	0.29050	0.07495	0.13510	N	AEFBI	0.081817	0.16559	N	-0.738135486789624	0.14957	0.7496244	-0.643745705252778	0.18375	0.981301	0.993186582254135	0.33117	0.732398	0.92422	0	0.702456	0.74545	0	0.80507	0.99327	0	0.727631	0.95156	0	.	.	4.59	1.81	0.24139	-1.360000	0.02706	0.362000	0.17587	0.599000	0.40250	0.000000	0.06391	0.976000	0.30059	0.870000	0.41412	0.0:0.4925:0.1598:0.3477	4.319	0.10450	262	0.89730	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1613.33	34	chr12	51364221	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=763;ExcessHet=0;FS=3.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=2.76;SOR=0.975	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1275	18	0	1	0
chr12	51462389	51462389	C	T	exonic	SLC4A8	.	nonsynonymous SNV	SLC4A8:NM_001039960:exon10:c.C1181T:p.T394M,SLC4A8:NM_001258401:exon10:c.C1022T:p.T341M,SLC4A8:NM_001258402:exon10:c.C1181T:p.T394M,SLC4A8:NM_001258403:exon10:c.C1022T:p.T341M,SLC4A8:NM_001267615:exon10:c.C1022T:p.T341M	.	430	1091	1	0	0	1	0.000458085	.	.	.	2685258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0759959924271	7.7e-05	.	8.323e-05	0	0	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs200938638	8.906e-05	8.961e-05	8.452e-05	9.365e-05	0.0002	7.633e-05	7.178e-05	0.0002	0.0001	2.998e-05	2.257e-05	7.678e-05	2.522e-05	0	0	9e-05	6.634e-05	0.0002	5.259e-05	5.253e-05	2.57e-05	8.073e-05	0.0002	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.01	0.59928	D	0.011	0.66756	D	0.987	0.61912	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	-0.36	0.68754	T	-5.4	0.85103	D	0.907	0.90818	0.215	0.86162	D	0.560	0.83970	D	10	0.7269023	0.74035	D	0.075996	0.72423	D	0.611	0.84773	.	.	0.082315109003	0.07666	0.7305195841599282	0.72996	1.75140480427	0.90995	0.815451979637	0.84330	D	0.741688	0.92850	D	0.0799885	0.62039	D	0.174681	0.81687	D	0.681824684143066	0.39871	D	0.904909	0.67676	D	0.7181024	0.79056	0.6491804	0.79478	0.7181024	0.79057	0.6491804	0.79479	-10.137	0.78224	D	.	.	0.466	0.71754	A	.;.;.;.	.;.;.;.	5.534056	0.91900	32	0.99931989218710993	0.99439	0.98129	0.79847	D	AEFBI	0.868676	0.78890	D	0.867178219213403	0.90064	10.23677	0.831602733317215	0.91898	11.12631	0.999999999271545	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.21	5.21	0.72005	7.902000	0.86082	5.942000	0.51497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.399	0.90455	229	0.91079	.;.;Band 3 cytoplasmic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	831.33	36	chr12	51462389	.	C	T	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.587;DP=710;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.405;SOR=0.843	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1351	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	./.:53,0:53:0:0,0,1102	7	0	10	2
chr12	51765852	51765852	A	G	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon16:c.A2726G:p.N909S,SCN8A:NM_001330260:exon16:c.A2726G:p.N909S,SCN8A:NM_001369788:exon16:c.A2726G:p.N909S,SCN8A:NM_014191:exon16:c.A2726G:p.N909S	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	2099699	Developmental_and_epileptic_encephalopathy|not_provided	MONDO:MONDO:0100620,MedGen:C5779964|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.354	0.0592114194369	.	.	8.255e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs776493877	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.016	0.17743	B	0.000028	0.55875	N	0.156333	0.638915	0.30633	N	-1.095	0.01012	N	-4.86	0.98263	D	1.3	0.01166	N	0.129	0.13484	0.100	0.84165	D	0.698	0.89587	D	10	0.07438043	0.11362	T	0.059211	0.67586	D	0.354	0.67510	0.497	0.58678	0.552850462401	0.54942	0.8482593398667344	0.84786	1.43513484205	0.85872	0.557674646378	0.46939	T	0.549538	0.84722	D	-0.0308198	0.47298	T	-0.282047	0.46595	T	0.0459325629837237	0.04771	T	0.910209	0.68443	D	0.025065795	0.01403	0.04807537	0.07062	0.025065795	0.01402	0.04807537	0.07062	-0.379	0.00548	T	0.04847358324312268	0.00752	0.056	0.00478	B	.;.;.;.;.	.;.;.;.;.	2.552722	0.33047	19.22	0.24234837832897135	0.01062	0.84217	0.43300	D	AEFBI	0.222483	0.34697	N	-0.645378019210941	0.17595	0.9067356	-0.40948380170743	0.24719	1.355196	0.321255425722644	0.19387	0.706548	0.73137	0	0.563428	0.19063	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	4.66	3.47	0.38831	2.182000	0.42186	4.148000	0.42131	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.999000	0.91618	0.9261:0.0:0.0738:0.0	11.277	0.48407	623	0.65786	Ion transport domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	33	chr12	51765852	.	A	G	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=836;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.846;SOR=0.751	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1354	18	0	1	0
chr12	51822091	51822091	A	G	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.T323C:p.L108S,FIGNL2:NM_001384995:exon2:c.T323C:p.L108S,FIGNL2:NM_001384996:exon3:c.T323C:p.L108S	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0013	0	0.0028	0	0.0012	0.0014	0	0.0011	0.0008991	139	154602	rs201565575	0.0016	0.0016	0.0016	0.0016	0.0019	0.0016	0.0016	0.0018	0.0018	0.0001	0.0013	0.0012	0	0.0006	0	0.0019	0.0020	0.0006	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0008	0.0012	0	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	0.952	0.54136	P	0.521	0.48239	P	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05311221	0.05452	T	.	.	.	.	.	.	.	.	.	0.71098782301786	0.71040	.	.	0.755849599838	0.75312	T	0.05373	0.29523	T	.	.	.	.	.	.	.	.	.	0.392661	0.09777	T	0.17028193	0.37594	0.4424081	0.67492	0.17028193	0.37593	0.4424081	0.67493	-3.33	0.14126	T	.	.	0.369	0.57769	A	.;.	.;.	3.176148	0.43089	21.7	0.90357450210733703	0.19622	0.94128	0.60197	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999653716	0.74766	0.162408	0.03677	1	0.085267	0.02369	0	0.132232	0.03703	1	0.062806	0.01542	0	0.950262	0.61920	4.75	4.75	0.59954	5.118000	0.64511	10.888000	0.84081	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	1.0:0.0:0.0:0.0	14.424	0.66775	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002024	0.000000	0.001366	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1322.33	33	chr12	51822091	.	A	G	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.446;DP=742;ExcessHet=0;FS=3.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.259;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	18	0	1	0
chr12	51915298	51915298	C	A	exonic	ACVRL1	.	nonsynonymous SNV	ACVRL1:NM_001077401:exon6:c.C846A:p.H282Q,ACVRL1:NM_000020:exon7:c.C846A:p.H282Q	Telangiectasia, hereditary hemorrhagic, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.46180602428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.16198	T	0.448	0.18286	T	0.978	0.58756	D	0.658	0.52749	P	0.000251	0.46924	D	0.000000	0.945595	0.41204	D	1.32	0.33002	L	-3.2	0.93231	D	-0.86	0.23590	N	0.36	0.40164	0.314	0.87770	D	0.721	0.90440	D	10	0.5241899	0.62814	D	0.461806	0.94526	D	0.479	0.77012	0.303	0.27164	0.896824283825	0.89580	0.6898534164270208	0.68925	1.09570461557	0.77565	0.633803606033	0.57684	T	0.498696	0.82002	T	0.0780814	0.61815	D	-0.125618	0.61339	T	0.787656009197235	0.45537	D	0.80342	0.46506	T	0.43000278	0.62752	0.21392795	0.45923	0.43000278	0.62753	0.21392795	0.45922	-7.157	0.55172	T	.	.	0.200	0.49731	B	.;.;.	.;.;.	1.550374	0.19873	14.48	0.91579608809975854	0.20861	0.51845	0.28991	D	AEFDBCI	0.511172	0.53992	D	-0.532523517719019	0.21036	1.113378	-0.603291575764728	0.19408	1.041147	0.999999973622636	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	5.31	-3.77	0.04062	-1.258000	0.02973	-6.858000	0.01288	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.986000	0.61781	0.0:0.3621:0.0:0.6379	13.712	0.62153	473	0.77910	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4950.33	38	chr12	51915298	.	C	A	4950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=1049;ExcessHet=0;FS=2.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.134;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	18	0	1	0
chr12	52185547	52185547	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon2:c.G341A:p.R114H,KRT80:NM_182507:exon2:c.G341A:p.R114H	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.0615781536099	0.0012	0.000798722	0.0017	0.0002	0.0003	0	0.0034	0.0016	0.0011	0.0048	0.0015071	233	154602	rs140694010	0.0015	0.0015	0.0015	0.0016	0.0040	0.0015	0.0014	0.0037	0.0035	0.0003	0.0005	0.0028	2.519e-05	0.0031	0.0038	0.0013	0.0017	0.0040	0.0012	0.0012	0.0011	0.0013	0.0037	0.0011	0.0010	0.0024	0.0020	0.0001	0.0022	0.0003	0.0012	0	0.0053	0.0034	0.0014	0.0028	0.0037	0.0	0.91255	D	0.013	0.63918	D	1.0	0.90584	D	0.938	0.70837	D	0.001421	0.39044	N	0.000000	0.525183	0.31930	D	1.845	0.48678	L	-2.54	0.89496	D	-3.09	0.63438	D	0.223	0.25867	0.253	0.86787	D	0.618	0.86539	D	10	0.014934212	0.00314	T	0.061578	0.68375	D	0.431	0.73735	.	.	0.71071307219	0.70818	0.4412763705325972	0.44044	0.176704391876	0.19884	0.433360755444	0.29668	T	0.434785	0.78175	T	-0.279285	0.10743	T	-0.174095	0.57067	T	0.0296343666567351	0.01933	T	0.79912	0.45710	T	0.35676637	0.57589	0.28712946	0.54723	0.35676637	0.57590	0.28712946	0.54722	-7.121	0.54911	T	.	.	0.149	0.32922	B	.;.	.;.	3.635006	0.51511	23.1	0.99922515138555645	0.98852	0.21630	0.21469	N	AEFDGBCI	0.103537	0.20740	N	0.0522996902005439	0.44248	2.702347	0.0324723964172609	0.41233	2.473753	0.999998930341393	0.74766	0.50712	0.20391	0	0.59043	0.45803	0	0.491513	0.07944	0	0.635259	0.50027	0	.	.	5.08	3.27	0.36580	0.369000	0.20149	.	.	0.599000	0.40250	0.075000	0.22209	1.000000	0.68203	0.993000	0.69303	0.0:0.6483:0.0:0.3517	6.453	0.21116	337	0.86119	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	813.33	33	chr12	52185547	.	C	T	813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=681;ExcessHet=0;FS=2.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.711;SOR=0.379	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1309	18	0	1	0
chr12	52302070	52302070	G	C	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon3:c.G154C:p.G52R	Monilethrix, Autosomal dominant	4	1490	27	1	0	29	0.00963775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.146648324515	.	0.00279553	0.0042	0.0002	0.0030	0.0064	0.0003	0.0036	0.0058	0.0077	0.001191	31	26028	rs376835872	0.0020	0.0026	0.0018	0.0022	0.0079	0.0019	0.0019	0.0063	0.0061	0.0002	0.0016	0.0283	0.0042	0.0002	0.0079	0.0009	0.0044	0.0068	0.0020	0.0021	0.0018	0.0021	0.0078	0.0018	0.0017	0.0058	0.0051	0.0003	0	0.0017	0.0272	0.0062	0.0006	0.0034	0.0012	0.0033	0.0078	0.004	0.65419	D	0.013	0.63109	D	0.99	0.63424	D	0.928	0.66279	D	0.003547	0.34793	U	0.000000	0.962343	0.38285	D	2.53	0.73802	M	-3.22	0.93352	D	-3.94	0.73378	D	0.567	0.59053	0.958	0.96514	D	0.875	0.95850	D	10	0.009016246	0.00204	T	0.146648	0.82875	D	0.678	0.88157	0.402	0.43245	0.907128477934	0.90620	0.10990278393304766	0.10919	2.01890163659	0.93980	0.691939294338	0.65984	T	0.120638	0.57973	T	-0.0406634	0.45850	T	0.17226	0.81543	D	0.026200499663735	0.01433	T	0.761924	0.39120	T	0.12913589	0.30170	0.23273379	0.48443	0.12467664	0.29247	0.20505106	0.44655	-7.39	0.56834	T	0.21499002269076986	0.28896	0.231	0.46389	B	.;.;.	.;.;.	4.280824	0.65203	24.8	0.99916154193803342	0.98449	0.97414	0.74598	D	AEFDBI	0.450871	0.50509	N	0.669673838016625	0.77645	6.715113	0.603116068978264	0.75167	6.262736	0.999992520991363	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	3.430000	0.52575	.	.	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.227000	0.22653	0.0901:0.0:0.9099:0.0	11.014	0.46892	722	0.55239	Keratin type II head;Keratin type II head;Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009150	0.000000	0.010929	0.012397	0.000000	0.017241	0.012579	0.003788	0.05263	1990.83	35	chr12	52302070	.	G	C	1990.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.007;DP=776;ExcessHet=0.119;FS=4.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.76;MQRankSum=-0.48;QD=12.37;ReadPosRankSum=1.54;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	17	0	2	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	293.51	64	chr12	52385056	.	G	C	293.51	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.699;DP=1326;ExcessHet=0.119;FS=555.56;InbreedingCoeff=-0.1115;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.43;SOR=7.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:89:.:.:0,89,2014:.	16	0	2	1
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.002924	0.000000	0.025862	0.009146	0.000000	0.02632	600.33	34	chr12	52396963	.	G	A	600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.386;SOR=0.736	GT:AD:DP:GQ:PL	0/1:28,24:52:99:614,0,645	18	0	1	0
chr12	52424702	52424702	C	T	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon9:c.G1471A:p.G491S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.016270021816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.195	0.28032	T	0.006	0.13644	B	0.004	0.10090	B	0.226949	0.16007	N	0.522500	1	0.08975	N	1.9	0.50570	L	-3.74	0.95493	D	-1.99	0.45949	N	0.233	0.26233	-0.4588	0.70108	T	0.575	0.84644	D	10	0.070818245	0.10355	T	0.01627	0.37444	T	0.268	0.58254	0.302	0.27003	0.348764635752	0.34483	0.5419504819490244	0.54120	0.086098281219	0.09729	0.306460976601	0.11372	T	0.303257	0.67562	T	0.038541	0.56854	T	-0.182415	0.56299	T	0.0741974636912346	0.09228	T	0.165083	0.01523	T	0.050598	0.09165	0.06436536	0.12888	0.050598	0.09164	0.06436536	0.12888	-5.315	0.40091	T	.	.	0.070	0.03443	B	.	.	1.231322	0.16264	12.42	0.53495995071233693	0.04951	0.14881	0.18633	N	AEFBI	0.067463	0.13263	N	-1.26205132109622	0.04142	0.1864162	-1.2377741788031	0.05315	0.2529207	0.0152254109907561	0.12689	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.88	0.986	0.18902	0.672000	0.24868	.	.	-0.316000	0.05924	0.039000	0.20931	0.000000	0.08366	0.854000	0.40426	0.1769:0.5376:0.0:0.2856	3.491	0.07202	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	700.33	34	chr12	52424702	.	C	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=747;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.594;SOR=1.182	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr12	52447563	52447563	C	T	exonic	KRT6B	.	nonsynonymous SNV	KRT6B:NM_005555:exon8:c.G1435A:p.E479K	Pachyonychia congenita 4	0	1514	7	1	0	9	0.00296345	.	.	.	3695578	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.450	0.185703409743	7.7e-05	0.000599042	0.0002	9.61e-05	8.64e-05	0	0	0.0001	0	0.0012	0.0002135	33	154602	rs369418982	0.0001	0.0001	7.76e-05	0.0001	0.0010	8.714e-05	8.201e-05	0.0008	0.0007	0	2.236e-05	0	0	0	0.0003	4.857e-05	9.937e-05	0.0010	9.192e-05	9.187e-05	5.139e-05	0.0001	0.0006	5.524e-05	4.362e-05	0.0002	8.985e-05	9.624e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.93	0.66466	D	0.000026	0.55875	D	0.000000	0.941888	0.37351	D	3.005	0.85968	M	-2.08	0.86010	D	-3.52	0.68412	D	0.514	0.54496	0.755	0.93852	D	0.782	0.92596	D	10	0.20932615	0.37291	T	0.185703	0.85829	D	0.450	0.75074	.	.	0.903155408053	0.90219	0.675983533478335	0.67536	0.745361022122	0.63493	0.536536812782	0.43956	T	0.569455	0.85720	D	-0.28275	0.10378	T	-0.219461	0.52789	T	0.483605802059174	0.32030	T	0.937806	0.76632	D	0.63158965	0.74383	0.49033168	0.70514	0.63158965	0.74384	0.49033168	0.70514	-13.485	0.91262	D	0.4216863224824031	0.51037	0.568	0.67539	P	.	.	5.305474	0.89070	29.8	0.99842449566650093	0.92316	0.93462	0.58282	D	AEFDGBI	0.228111	0.35182	N	0.496664075569349	0.66893	5.009724	0.324151767791112	0.56962	3.860557	0.999541846930859	0.40300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.93	2.93	0.33092	3.346000	0.51907	.	.	0.429000	0.20894	0.994000	0.38300	0.994000	0.32194	0.546000	0.30079	0.0:0.896:0.0:0.104	10.031	0.41274	607	0.67291	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6490.33	38	chr12	52447563	.	C	T	6490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.74;DP=1918;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.087;SOR=0.739	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	18	0	1	0
chr12	52448859	52448859	C	T	exonic	KRT6B	.	nonsynonymous SNV	KRT6B:NM_005555:exon6:c.G1186A:p.D396N	Pachyonychia congenita 4	0	1470	50	2	0	54	0.0180361	.	.	.	1650215	not_provided|Pachyonychia_congenita_4|KRT6B-related_disorder	MedGen:C3661900|MONDO:MONDO:0014325,MedGen:C3714949,OMIM:615728,Orphanet:2309|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0370667917493	0.0048	0.00379393	0.0049	0.0008	0.0021	0	0.0047	0.0065	0.0066	0.0055	0.0048318	747	154602	rs138988810	0.0050	0.0050	0.0048	0.0053	0.0166	0.0049	0.0049	0.0140	0.0129	0.0008	0.0033	0.0042	0	0.0040	0.0166	0.0053	0.0051	0.0060	0.0047	0.0047	0.0047	0.0047	0.0086	0.0044	0.0043	0.0074	0.0069	0.0012	0.0077	0.0086	0.0029	0.0002	0.0048	0.0102	0.0063	0.0029	0.0066	0.002	0.72154	D	0.02	0.58613	D	0.982	0.60036	D	0.749	0.56004	P	0.000005	0.62929	D	0.000000	0.941029	0.37319	D	2.52	0.73523	M	-2.43	0.88689	D	-3.48	0.67941	D	0.206	0.22870	0.211	0.86091	D	0.611	0.86212	D	10	0.009766489	0.00220	T	0.037067	0.57386	D	0.323	0.64522	.	.	0.933383198423	0.93269	0.0682777528414946	0.06765	0.692663828589	0.60675	0.378177523613	0.21997	T	0.769912	0.93833	D	-0.448374	0.01155	T	-0.411285	0.32075	T	0.0317104304020713	0.02260	T	0.714629	0.32694	T	0.5250736	0.68550	0.40600243	0.64985	0.5250736	0.68551	0.40600243	0.64985	-12.26	0.86094	D	0.5008968298425475	0.57612	0.244	0.47837	B	.	.	3.883627	0.56458	23.7	0.99727823198475718	0.82549	0.79584	0.39464	D	AEFDBI	0.120194	0.23426	N	-0.15400297750387	0.35064	2.009386	-0.392549665494659	0.25217	1.385506	0.944437047773551	0.27615	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.75	-0.249	0.12368	2.146000	0.41840	.	.	0.549000	0.26987	0.944000	0.32806	0.000000	0.08366	0.975000	0.56047	0.0:0.7115:0.0:0.2885	8.354	0.31480	595	0.68488	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.020202	0.017663	0.011696	0.000000	0.008621	0.021341	0.022727	0.02632	6578.33	35	chr12	52448859	.	C	T	6578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1180;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=2.12;QD=12.44;ReadPosRankSum=-0.77;SOR=0.802	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr12	52491597	52491597	C	T	exonic	KRT6A	.	nonsynonymous SNV	KRT6A:NM_005554:exon2:c.G680A:p.S227N	Pachyonychia congenita 3	0	1511	11	0	0	11	0.00362677	.	.	.	2706501	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	.	.	.	0.0029	0.0002	0.0037	0.0353	0.0003	5.994e-05	0	0.0001	3.84e-05	1	26028	rs200763387	0.0003	0.0086	0.0003	0.0003	0.0198	0.0003	0.0003	0.0183	0.0177	0	0.0008	0	0.0198	0	0	0	0.0001	0.0001	0.0005	0.0088	0.0005	0.0006	0.0188	0.0004	0.0004	0.0151	0.0137	0	0	0.0010	0	0.0188	9.535e-05	0	1.471e-05	0	0.0002	0.216	0.19225	T	0.485	0.11725	T	0.097	0.25541	B	0.036	0.22909	B	0.136905	0.18430	N	0.534254	1	0.08975	N	1.15	0.29295	L	-3.01	0.92208	D	-0.94	0.25118	N	0.143	0.14338	-0.5535	0.66653	T	0.482	0.80225	T	10	0.0068231523	0.00155	T	.	.	.	0.146	0.38789	.	.	0.517724816906	0.51416	0.03803643722075957	0.03749	0.289404301963	0.31353	0.447429031134	0.31593	T	0.332673	0.70261	T	-0.140604	0.29794	T	-0.439744	0.28837	T	0.203941658139229	0.20631	T	0.040496	0.00282	T	0.11607999	0.27383	0.121500604	0.29314	0.11607999	0.27383	0.121500604	0.29313	-6.881	0.53158	T	0.14376647227056955	0.16369	0.127	0.26917	B	.	.	0.957221	0.13337	9.839	0.94018117166021387	0.24123	0.10178	0.15756	N	AEFBCI	0.068389	0.13489	N	-1.03725381542184	0.07840	0.3655751	-1.09421995583413	0.07813	0.3815623	0.999999459557404	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	-4.92	0.02848	0.219000	0.17426	.	.	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.084:0.2949:0.3924:0.2286	4.636	0.11908	759	0.50631	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	872.83	43	chr12	52491597	.	C	T	872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.598;DP=1331;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.12;MQRankSum=-10.77;QD=1.41;ReadPosRankSum=-3.469;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1396:.	17	0	2	0
chr12	52544690	52544690	C	A	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon9:c.G1414T:p.V472F	.	418	1098	6	0	0	6	0.0027248	.	.	.	702374	KRT71-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.398	0.113247313576	0.0038	0.00199681	0.0042	0.0012	0.0023	0	0.0020	0.0069	0.0022	6.062e-05	0.0041655	644	154602	rs144618122	0.0057	0.0057	0.0058	0.0055	0.0068	0.0056	0.0055	0.0067	0.0066	0.0009	0.0029	0.0008	0	0.0027	0.0028	0.0068	0.0053	0.0002	0.0040	0.0040	0.0042	0.0038	0.0067	0.0037	0.0036	0.0062	0.0060	0.0014	0	0.0041	0.0003	0	0.0018	0	0.0067	0.0052	0.0006	0.166	0.23183	T	0.703	0.05663	T	0.911	0.50336	P	0.312	0.41466	B	0.002594	0.36278	N	0.000000	0.500924	0.31740	D	2.25	0.63811	M	-1.54	0.81640	D	-0.29	0.11728	N	0.386	0.42737	-0.5478	0.66870	T	0.215	0.57692	T	10	0.0070506036	0.00160	T	0.113247	0.79168	D	0.398	0.71242	.	.	0.694469183971	0.69183	0.5703252027034303	0.56960	0.324130720677	0.34570	0.523975968361	0.42187	T	0.036397	0.24088	T	-0.198272	0.21055	T	-0.0471922	0.67214	D	0.0275868187282274	0.01628	T	0.766023	0.39401	T	0.22166216	0.44748	0.18730983	0.41956	0.2163197	0.44087	0.17598224	0.40100	-5.143	0.38357	T	.	.	0.098	0.16099	B	.	.	2.804402	0.36903	20.4	0.99004663179765429	0.50231	0.81854	0.41176	D	AEFDGBHCI	0.115692	0.22737	N	-0.0679446180587846	0.38804	2.278438	-0.0262094370565259	0.38535	2.271715	0.999988518758378	0.51787	0.422189	0.06491	0	0.563428	0.19063	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	1.611000	0.36490	.	.	0.599000	0.40250	0.190000	0.24188	0.998000	0.33993	0.936000	0.47498	0.0:1.0:0.0:0.0	12.327	0.54340	856	0.34373	.	.	.	.	.	rs144618122	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	671.33	76	chr12	52544690	.	C	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.412;DP=979;ExcessHet=0;FS=3.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.711;SOR=1.341	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr12	52608203	52608203	A	G	exonic	KRT73	.	nonsynonymous SNV	KRT73:NM_175068:exon9:c.T1616C:p.M539T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0124439131455	7.7e-05	.	3.429e-05	0	0	0	0	3.052e-05	0	0.0002	2.59e-05	4	154602	rs138494929	1.988e-05	1.984e-05	1.227e-05	2.757e-05	4.666e-05	1.395e-05	1.206e-05	1.589e-05	1.108e-05	0	0	0	0	0	0	1.982e-05	4.978e-05	4.666e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.725	0.03869	T	0.424	0.13953	T	0.0	0.02946	B	0.0	0.01387	B	0.512026	0.11834	N	0.716472	1	0.08975	N	-0.6	0.02229	N	-1.32	0.80560	T	1.09	0.01447	N	0.128	0.12198	-0.9626	0.38684	T	0.200	0.55569	T	10	0.0375064	0.02109	T	0.012444	0.31014	T	0.104	0.29647	.	.	0.206339911435	0.20273	0.08743221518133712	0.08676	0.146840818826	0.16573	0.28814920783	0.08653	T	0.00807	0.07427	T	-0.237403	0.15682	T	-0.396643	0.33774	T	0.0187369365437889	0.00586	T	0.314169	0.06189	T	0.08300566	0.19149	0.13292839	0.31886	0.08300566	0.19149	0.13292839	0.31885	-2.068	0.03449	T	.	.	0.057	0.00543	B	.;.	.;.	0.265291	0.06434	2.905	0.77758553322141333	0.12010	0.00126	0.00785	N	AEFBI	0.017345	0.00449	N	-1.21546237097244	0.04775	0.2162409	-1.13879795758249	0.06970	0.3373841	2.87065253760134E-4	0.06355	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.06	-0.49	0.11448	0.412000	0.20852	.	.	-0.208000	0.08445	0.031000	0.20493	0.001000	0.17328	0.771000	0.36558	0.4345:0.0:0.5655:0.0	8.226	0.30728	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	33	chr12	52608203	.	A	G	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.536;DP=701;ExcessHet=0;FS=5.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.64;SOR=0.275	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1260	18	0	1	0
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTG	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insCACTACAAACTCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Tfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.857e-05	5.213e-05	1.779e-05	1.935e-05	0.0002	1.272e-05	1.09e-05	1.221e-05	1.036e-05	0	0	0	0	7.521e-05	0.0002	1.901e-05	1.664e-05	0	0.0001	0.0001	9.046e-05	0.0001	0.0002	6.548e-05	5.352e-05	9.122e-05	7.066e-05	0	0	0.0002	0	0	9.452e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	307.29	36	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTG	307.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=764;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.65;ReadPosRankSum=-1.14;SOR=0.99	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1435	18	0	1	0
chr12	52792325	52792325	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon5:c.G1102T:p.D368Y	Meesmann corneal dystrophy, Autosomal dominant	1	1512	7	2	0	11	0.00362438	.	.	.	2332417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.646	0.0262360365516	0.0002	.	0.0003	0	0.0010	0	0	0.0003	0	0	0.0002135	33	154602	rs200059777	9.373e-05	9.44e-05	9.666e-05	9.076e-05	0.0014	8.093e-05	7.585e-05	0.0011	0.0010	5.974e-05	0.0014	0.0005	0	0	0.0009	3.058e-05	0.0003	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.233e-05	0.0001	8.877e-05	7.216e-05	0	0.0003	0.0006	0	9.416e-05	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.007105	0.31595	N	0.144773	0.938243	0.37219	D	4.695	0.99465	H	-1.3	0.79571	T	-8.17	0.96779	D	0.725	0.72656	0.860	0.95149	D	0.769	0.92157	D	10	0.81367195	0.80626	D	0.026236	0.49161	D	0.646	0.86586	.	.	0.984891002207	0.98472	0.4181440622618213	0.41730	0.667375979428	0.59248	0.367967605591	0.20540	T	0.691204	0.91023	D	-0.0732956	0.40798	T	0.0814063	0.75672	D	0.838972747325897	0.49244	D	0.868113	0.56980	D	0.93376225	0.94615	0.9206008	0.96441	0.93376225	0.94616	0.9206008	0.96441	-14.408	0.94307	D	.	.	0.498	0.64500	A	.	.	4.435260	0.68814	25.3	0.99497020787487134	0.67801	0.93226	0.57654	D	AEFDGBI	0.693550	0.65284	D	0.755262770666792	0.83247	7.967692	0.617638328680063	0.76221	6.451108	0.941717268445494	0.27490	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.51	3.59	0.40253	2.044000	0.40863	.	.	0.549000	0.26987	1.000000	0.71638	0.797000	0.26915	0.905000	0.44082	0.0:0.9175:0.0:0.0825	13.453	0.60632	572	0.70300	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1331.33	164	chr12	52792325	.	C	A	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.174;DP=1844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.168;SOR=0.655	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	18	0	1	0
chr12	52795715	52795715	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon1:c.G328T:p.G110C	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.100082881053	.	.	8.388e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs776973006	1.369e-06	2.053e-06	0	2.753e-06	9e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.014	0.62352	D	1.0	0.90584	D	0.94	0.67560	D	0.000595	0.43095	D	0.000000	0.997653	0.22567	N	3.745	0.94976	H	-5.12	0.98731	D	-1.65	0.39503	N	0.489	0.52297	0.841	0.94911	D	0.950	0.98368	D	10	0.6301134	0.68467	D	0.100083	0.77214	D	0.514	0.79217	0.446	0.50466	0.960643931646	0.96022	0.638443046292737	0.63778	0.140064507069	0.15782	0.408687949181	0.26275	T	0.090564	0.38612	T	0.202422	0.74118	D	0.0529888	0.73780	D	0.509369969682878	0.32974	D	0.244276	0.03572	T	0.13920048	0.32163	0.11903784	0.28733	0.13920048	0.32163	0.11903784	0.28732	-8.489	0.64357	D	.	.	0.158	0.35013	B	.	.	3.045820	0.40854	21.2	0.94887146999416105	0.25725	0.86739	0.46085	D	AEFDBI	0.277095	0.39168	N	-0.0486859151059224	0.39661	2.342519	-0.268091382401617	0.29156	1.631255	0.453639354120062	0.20562	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.18	2.28	0.27583	1.211000	0.31987	.	.	0.436000	0.21017	1.000000	0.71638	0.993000	0.31925	0.406000	0.26916	0.1518:0.7021:0.1462:0.0	10.362	0.43183	590	0.68897	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	34	chr12	52795715	.	C	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.089;DP=832;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.48;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	18	0	1	0
chr12	52822053	52822053	A	G	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon9:c.T1427C:p.V476A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00843040620311	.	.	8.384e-06	0	0	0	0	0	0	6.096e-05	6.5e-06	1	154602	rs746481989	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.577	0.08594	T	0.329	0.33227	B	0.057	0.26280	B	0.161575	0.17647	N	0.471995	0.999604	0.20887	N	2.075	0.57047	M	-2.18	0.86722	D	0.27	0.04306	N	0.271	0.30687	-0.7683	0.56951	T	0.349	0.71336	T	10	0.093174756	0.16467	T	0.00843	0.22307	T	0.180	0.45073	0.371	0.38176	0.53832913131	0.53483	0.29575159730917294	0.29488	0.12432472506	0.13995	0.597884535789	0.52606	T	0.00337	0.02778	T	-0.106977	0.35268	T	-0.209914	0.53704	T	0.093794971704483	0.11660	T	0.244276	0.03572	T	0.025943642	0.01591	0.033484194	0.02250	0.025943642	0.01591	0.033484194	0.02250	-4.855	0.35225	T	.	.	0.124	0.25946	B	.	.	1.298087	0.16994	12.89	0.96275056011513815	0.29263	0.08778	0.14656	N	AEFDBI	0.046560	0.07744	N	-0.584311827616364	0.19420	1.016285	-0.544594426307544	0.20948	1.131034	0.940977930453779	0.27456	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	3.06	0.34374	1.972000	0.40163	.	.	0.756000	0.94297	0.004000	0.16614	0.212000	0.23650	0.723000	0.34869	0.8642:0.0:0.1358:0.0	5.534	0.16289	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	35	chr12	52822053	.	A	G	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=707;ExcessHet=0;FS=3.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-0.419;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	18	0	1	0
chr12	52844092	52844092	C	T	splicing	KRT78	NM_001300814:exon6:c.717+1G>A;NM_173352:exon6:c.1047+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369967	0.88040	D	0.293656	0.87888	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.765200	0.77079	26.6	0.99516411059901411	0.68979	0.95684	0.65718	D	AEFDBHI	.	.	.	0.963108066162634	0.94491	12.800	0.76755498687648	0.87461	9.230449	0.98872987557459	0.31608	0.077785	0.01820	0	0.071152	0.01849	0	0.063197	0.01477	0	0.088932	0.02473	0	0.973165	0.75581	4.35	4.35	0.51454	3.075000	0.49771	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	14.508	0.67348	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1025.33	33	chr12	52844092	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=688;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.083;SOR=0.342	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	53059230	53059230	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1619A:p.R540Q,TNS2:NM_170754:exon18:c.G1589A:p.R530Q,TNS2:NM_198316:exon18:c.G1217A:p.R406Q	.	427	1061	33	1	0	35	0.0162262	.	.	.	2100270	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.320	0.772024504778	0.0043	0.00199681	0.0052	0.0010	0.0027	0	0.0017	0.0070	0.0034	0.0067	0.0001153	3	26028	rs186505042	0.0045	0.0045	0.0044	0.0046	0.0142	0.0044	0.0044	0.0116	0.0107	0.0017	0.0025	0.0250	5.123e-05	0.0011	0.0142	0.0043	0.0064	0.0054	0.0039	0.0039	0.0043	0.0035	0.0050	0.0036	0.0035	0.0045	0.0044	0.0008	0.0044	0.0049	0.0257	0.0004	0.0007	0.0238	0.0050	0.0077	0.0043	0.05	0.40068	D	0.444	0.15157	T	0.414	0.35185	B	0.05	0.25278	B	0.009088	0.30522	N	0.290697	0.563685	0.32234	D	.	.	.	-3.36	0.94067	D	-0.74	0.20791	N	0.251	0.32812	-0.4187	0.71434	T	0.387	0.74187	T	10	0.01160565	0.00253	T	0.772025	0.98198	D	0.320	0.64215	.	.	0.136095386433	0.13204	0.310462656355981	0.30959	0.897905251988	0.70530	0.669389784336	0.62751	T	0.166645	0.51296	T	-0.233784	0.16152	T	-0.106949	0.62854	T	0.0177116158695106	0.00502	T	0.927407	0.73262	D	0.12236214	0.28756	0.088153794	0.20536	0.12236214	0.28756	0.088153794	0.20536	-4.152	0.31627	T	.	.	0.140	0.32299	B	.;.;.;.;.;.	.;.;.;.;.;.	4.123727	0.61658	24.4	0.99869567671012383	0.94726	0.26646	0.23052	N	AEFDBCIJ	0.230530	0.35389	N	-0.435702239582266	0.24227	1.306702	-0.29249201110978	0.28344	1.579759	0.999889827802085	0.44867	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	0.972000	0.29007	9.666000	0.81207	0.588000	0.31329	0.003000	0.16062	1.000000	0.68203	0.815000	0.38403	0.1017:0.0:0.8983:0.0	9.088	0.35757	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021761	0.026316	0.020436	0.032164	0.000000	0.025862	0.012270	0.018939	0.05263	1249.83	37	chr12	53059230	.	G	A	1249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.55;DP=747;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.27;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	17	0	2	0
chr12	53060220	53060220	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C2609T:p.P870L,TNS2:NM_170754:exon18:c.C2579T:p.P860L,TNS2:NM_198316:exon18:c.C2207T:p.P736L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0853244612735	.	0.000798722	0.0002	0	0.0002	0.0013	0	0	0	0.0012	0.0001682	26	154602	rs117267236	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0036	0.0034	0	9.908e-05	0	0.0041	0	0.0002	3.696e-06	8.628e-05	0.0011	7.223e-05	7.218e-05	6.424e-05	8.059e-05	0.0015	3.969e-05	3.126e-05	0.0008	0.0006	0	0	6.534e-05	0	0.0015	0	0	0	0	0.0004	0.001	0.78490	D	0.302	0.36765	T	0.665	0.46254	P	0.261	0.42166	B	0.073387	0.21350	N	0.424789	0.600081	0.81001	D	.	.	.	-3.43	0.94834	D	-3.43	0.67359	D	0.412	0.69474	0.523	0.90872	D	0.674	0.88718	D	10	0.027695686	0.00911	T	0.085324	0.74508	D	0.246	0.55340	.	.	0.480801007081	0.47709	0.500442132832479	0.49965	0.393819959556	0.40552	0.548230051994	0.45608	T	0.511642	0.82746	D	-0.148418	0.28561	T	-0.0465668	0.67256	D	0.136072736418209	0.15932	T	0.927007	0.73169	D	0.20142607	0.42152	0.29886597	0.55920	0.20142607	0.42152	0.29886597	0.55919	-4.017	0.24057	T	.	.	0.156	0.35247	B	.;.;.;.;.	.;.;.;.;.	3.131644	0.42320	21.5	0.9947257781154849	0.66419	0.59432	0.30914	D	AEFGBCI	0.302068	0.41042	N	-0.121913495104188	0.36439	2.106304	-0.0756597208682512	0.36399	2.117801	0.999993064978766	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	5.06	5.06	0.67838	4.481000	0.59983	7.025000	0.57281	0.580000	0.29708	0.063000	0.21864	0.999000	0.35428	0.983000	0.59808	0.0:1.0:0.0:0.0	14.304	0.65925	761	0.50382	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2261.81	37	chr12	53060220	.	C	T	2261.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.8;SOR=1.539	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	18	1	0	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E,TNS2:NM_170754:exon20:c.G3248A:p.G1083E,TNS2:NM_198316:exon20:c.G2876A:p.G959E	.	416	1100	6	0	0	6	0.00271985	.	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1738.33	40	chr12	53061154	.	G	A	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=789;ExcessHet=0;FS=1.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.624;SOR=0.544	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	53115559	53115559	G	C	exonic	SOAT2	.	nonsynonymous SNV	SOAT2:NM_003578:exon6:c.G613C:p.A205P	.	.	.	.	.	.	.	.	.	.	.	2359753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.00612436594193	7.7e-05	0.000199681	1.211e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs144833101	9.731e-06	9.577e-06	9.674e-06	9.788e-06	0.0003	5.65e-06	4.42e-06	0.0002	0.0001	0.0003	0	0	0	0	0	9.037e-07	3.354e-05	0	3.281e-05	3.28e-05	3.853e-05	2.683e-05	0.0001	1.26e-05	7.97e-06	4.725e-05	3.044e-05	0.0001	0	0	0	0	0	0	0	0	0	0.212	0.19500	T	0.079	0.42086	T	0.963	0.55692	D	0.773	0.56974	P	0.008987	0.30568	N	0.332930	0.775002	0.34197	D	2.37	0.68279	M	2.15	0.19311	T	-2.05	0.47008	N	0.321	0.36148	-0.9588	0.39405	T	0.079	0.31284	T	9	0.26444498	0.43932	T	0.006124	0.16023	T	0.248	0.55615	.	.	0.227934060464	0.22382	0.7907936806265203	0.79031	0.621728062346	0.56454	0.441945314407	0.30843	T	0.368094	0.73305	T	-0.11666	0.33672	T	-0.219446	0.52791	T	0.710975766181946	0.41248	D	0.730727	0.34650	T	0.79744166	0.83742	0.85125905	0.91588	0.79744166	0.83744	0.85125905	0.91589	-11.594	0.82817	D	.	.	0.350	0.56547	A	.	.	2.821423	0.37167	20.4	0.99506205525839664	0.68322	0.90345	0.51447	D	AEFDBHI	0.414504	0.48374	N	0.163194915361171	0.49440	3.144253	0.0725722405461258	0.43176	2.62474	0.98326090910441	0.30531	0.428477	0.06694	0	0.547309	0.14657	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	5.46	3.56	0.39892	1.095000	0.30575	5.597000	0.49014	0.676000	0.76740	0.428000	0.26393	1.000000	0.68203	0.108000	0.18652	0.1404:0.1594:0.7001:0.0	7.077	0.24390	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	894.33	33	chr12	53115559	.	G	C	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.173;DP=733;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.539;SOR=1.04	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1193	18	0	1	0
chr12	53269644	53269644	-	GAGAGA	exonic	ESPL1	.	nonframeshift insertion	ESPL1:NM_012291:exon3:c.702_703insGAGAGA:p.R236_G237insER	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2983.29	35	chr12	53269644	.	T	TGAGAGA	2983.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.499;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.78;ReadPosRankSum=1.76;SOR=0.713	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr12	53282397	53282397	A	G	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon14:c.A2753G:p.N918S	.	426	1094	2	0	0	2	0.000913242	.	.	.	702392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0077	0.0105831	0.0026	0.0253	0.0013	0	0	0.0005	0.0033	0.0001	0.0025679	397	154602	rs73309511	0.0010	0.0010	0.0011	0.0009	0.0259	0.0009	0.0009	0.0244	0.0239	0.0259	0.0021	0.0052	0	0	0.0059	0.0001	0.0027	4.637e-05	0.0073	0.0073	0.0076	0.0069	0.0237	0.0069	0.0068	0.0224	0.0219	0.0237	0	0.0043	0.0055	0	0	0.0170	0.0003	0.0062	0	0.75	0.03587	T	0.915	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.427198	0.12795	N	0.781386	1	0.08975	N	-1.955	0.00212	N	2.83	0.10771	T	0.49	0.02993	N	0.031	0.01004	-0.9536	0.40345	T	0.002	0.00707	T	10	0.0026177168	0.00040	T	.	.	.	0.030	0.07022	.	.	0.158540857583	0.15491	0.03176641637444302	0.03125	0.519481197324	0.49770	0.317421466112	0.13029	T	0.02366	0.18020	T	-0.758594	0.00015	T	-0.842848	0.01057	T	0.00284857693842914	0.00030	T	0.19518	0.02132	T	0.011934889	0.00024	0.017222807	0.00028	0.011934889	0.00024	0.017222807	0.00028	-1.311	0.01419	T	.	.	0.051	0.00179	B	.;.	.;.	-0.034001	0.04055	0.939	0.14521464524345717	0.00323	0.00121	0.00759	N	AEFDGBI	0.019706	0.00710	N	-1.47797123350466	0.02006	0.08814023	-1.39483276324403	0.03307	0.1539846	0.643288616756383	0.22074	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	0.605	0.16731	0.429000	0.21131	2.604000	0.33538	-0.106000	0.15538	0.013000	0.18845	0.966000	0.29516	0.094000	0.17991	0.1776:0.1435:0.3662:0.3127	1.125	0.01625	715	0.56137	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.020202	0.008152	0.014620	0.000000	0.034483	0.000000	0.000000	0.02632	977.33	37	chr12	53282397	.	A	G	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=702;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.391;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	18	0	1	0
chr12	53299762	53299762	C	G	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C25G:p.L9V	.	0	225	1	0	0	1	0.00221729	.	.	.	3309753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.000	0.00454795783906	.	.	5.096e-05	0	0.0003	0	0	4.657e-05	0	0	3.88e-05	6	154602	rs764330399	3.079e-05	3.147e-05	3.676e-05	2.475e-05	0.0002	2.347e-05	2.095e-05	5.807e-05	3.953e-05	0	0.0001	0	0	0	0.0002	2.968e-05	8.281e-05	0	3.287e-05	3.283e-05	3.855e-05	2.692e-05	7.243e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	2.941e-05	0	0	0.163	0.23450	T	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	0.099056	0.02530	N	2.017560	1	0.20048	N	0.345	0.11182	N	0.9	0.45248	T	-0.21	0.10308	N	0.105	0.08925	-1.0576	0.12362	T	0.042	0.18076	T	10	0.03822249	0.02227	T	0.004548	0.11220	T	0.000	0.00003	0.322	0.30226	0.0806252709748	0.07271	0.41612489810467324	0.41528	0.150839345589	0.17018	.	.	.	0.073853	0.34797	T	-0.491424	0.00638	T	-0.688627	0.06469	T	0.0299046095841908	0.01974	T	0.357364	0.08134	T	0.042257875	0.06374	0.049895134	0.07721	0.042257875	0.06374	0.049895134	0.07720	-4.581	0.31932	T	.	.	0.083	0.09336	B	.	.	-0.681848	0.01363	0.077	0.6666778955107695	0.08126	0.01583	0.05155	N	ALL	0.238854	0.36091	N	-1.67233458955789	0.00944	0.04090914	-1.72947355947568	0.01013	0.04541677	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-5.8	0.02155	-2.557000	0.00999	-10.278000	0.00719	-1.957000	0.00479	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1096:0.3248:0.1078:0.4578	3.060	0.05823	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	40	chr12	53299762	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.022;DP=962;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-1.01;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,60:112:99:0|1:53299748_A_G:1464,0,1291:53299748	18	0	1	0
chr12	53299799	53299799	C	T	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C62T:p.T21I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00763810955466	0.0004	0.00199681	0.0014	0.0004	0.0002	0	0	0.0003	0	0.0085	0.001216	188	154602	rs138986768	0.0006	0.0006	0.0004	0.0009	0.0072	0.0006	0.0006	0.0068	0.0066	0.0007	0.0004	0	0	1.873e-05	0.0035	0.0002	0.0010	0.0072	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0045	0.0005	0	0	0	0	0	0	0.0002	0.0005	0.0070	0.021	0.49117	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.060189	0.02130	N	1.921390	1	0.19599	N	0.345	0.11182	N	1.0	0.41392	T	-0.42	0.14193	N	0.13	0.12484	-1.0250	0.22083	T	0.058	0.24317	T	10	0.003104955	0.00052	T	0.007638	0.20272	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.3777003793617032	0.37685	0.161219827377	0.18198	.	.	.	0.074533	0.34960	T	-0.635653	0.00088	T	-0.680439	0.06957	T	0.002566478180763	0.00027	T	0.458254	0.13193	T	0.050026316	0.08975	0.06833154	0.14257	0.050026316	0.08974	0.06833154	0.14257	-4.501	0.30902	T	.	.	0.115	0.22861	B	.	.	0.440373	0.08107	4.834	0.92249702680281398	0.21629	0.02084	0.06195	N	ALL	0.141607	0.26383	N	-1.32281383607669	0.03415	0.1525198	-1.34068077621244	0.03916	0.1836955	0.999999999999691	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-1.21	0.09033	-0.091000	0.11111	-0.278000	0.10292	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4484:0.2802:0.2714	5.448	0.15843	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1982.33	40	chr12	53299799	.	C	T	1982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1046;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.133;SOR=0.761	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr12	53487100	53487100	G	A	exonic	MAP3K12	.	nonsynonymous SNV	MAP3K12:NM_001193511:exon2:c.C292T:p.P98S,MAP3K12:NM_006301:exon3:c.C193T:p.P65S	.	421	1100	1	0	0	1	0.000454339	.	.	.	2197325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0595773612706	.	.	3.298e-05	0	0	0	0	6.001e-05	0	0	2.59e-05	4	154602	rs758333503	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0005	4.04e-06	2.95e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	6.295e-06	1.656e-05	0	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.565	0.06282	T	0.89	0.03214	T	0.002	0.09854	B	0.001	0.04355	B	0.000815	0.41658	D	0.000000	0.995855	0.42890	D	-0.69	0.01958	N	-0.95	0.75438	T	-1.39	0.34397	N	0.486	0.52029	-0.8503	0.51948	T	0.174	0.51801	T	10	0.109021544	0.20320	T	0.059577	0.67710	D	0.148	0.39182	0.226	0.15109	0.499560901647	0.49592	0.43390089366577306	0.43307	0.4724646507	0.46487	0.535342991352	0.43788	T	0.103076	0.41140	T	-0.179793	0.23766	T	-0.388379	0.34741	T	0.112345731089467	0.13665	T	0.783222	0.41972	T	0.087248035	0.20310	0.09714349	0.23110	0.087248035	0.20309	0.09714349	0.23110	-4.122	0.29840	T	.	.	0.068	0.03849	B	.;.;.	.;.;.	2.906868	0.38547	20.8	0.67582885047468	0.08398	0.60513	0.31217	D	AEFDGBCI	0.285236	0.39791	N	-0.448945742795751	0.23776	1.279172	-0.29924198828088	0.28123	1.565612	0.999998116303456	0.74766	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.87	3.93	0.44666	0.361000	0.20003	9.495000	0.80900	0.662000	0.56354	0.821000	0.30003	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8497:0.1503	14.091	0.64516	587	0.69154	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	33	chr12	53487100	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.531;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.124;SOR=0.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1388	18	0	1	0
chr12	53531805	53531805	C	T	exonic	ATF7;ATF7-NPFF	.	nonsynonymous SNV	ATF7:NM_001366561:exon8:c.G701A:p.R234H,ATF7:NM_001130060:exon9:c.G803A:p.R268H,ATF7:NM_001366555:exon9:c.G899A:p.R300H,ATF7:NM_001366556:exon9:c.G866A:p.R289H,ATF7:NM_001366558:exon9:c.G866A:p.R289H,ATF7-NPFF:NM_001366559:exon9:c.G866A:p.R289H,ATF7-NPFF:NM_001366560:exon9:c.G866A:p.R289H,ATF7:NM_006856:exon9:c.G866A:p.R289H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00678451120123	8e-05	0.000599042	0.0006	0	0.0001	0	0.0015	0.0002	0.0051	0.0027	0.0004722	73	154602	rs199777559	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	2.988e-05	4.489e-05	0	0	0.0024	0.0014	8.817e-05	0.0003	0.0026	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.817e-05	0	6.548e-05	0	0.0002	0.0011	0	0.0001	0.0005	0.0029	0.039	0.42783	D	0.092	0.39954	T	0.005	0.12996	B	0.004	0.10090	B	0.000000	0.84330	D	0.052195	0.999958	0.52935	D	1.545	0.39105	L	0.82	0.48142	T	-0.84	0.26422	N	0.331	0.37197	-1.0290	0.20778	T	0.118	0.41538	T	10	0.010108054	0.00226	T	0.006785	0.17925	T	0.105	0.29889	.	.	0.36076525451	0.35686	0.49081080903918584	0.49001	0.280772341152	0.30555	0.583838105202	0.50626	T	0.330737	0.70090	T	-0.448785	0.01148	T	-0.422352	0.30805	T	0.0491581015353019	0.05352	T	0.915108	0.69728	D	0.13874973	0.32077	0.09276749	0.21878	0.13874973	0.32077	0.09276749	0.21878	.	.	.	.	.	0.133	0.32299	B	.;.;.;.	.;.;.;.	3.913250	0.57078	23.8	0.99688023892592492	0.79708	0.94143	0.60242	D	AEFDBI	0.384734	0.46575	N	-0.0212385157539786	0.40895	2.436568	0.160045640125492	0.47677	2.994321	0.999662936898814	0.41534	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.563000	0.53529	4.047000	0.41475	0.545000	0.25583	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.9186:0.0:0.0814	12.426	0.54884	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1882.33	34	chr12	53531805	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=773;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.909;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr12	53537486	53537486	G	T	exonic	ATF7;ATF7-NPFF	.	nonsynonymous SNV	ATF7:NM_001366561:exon4:c.C166A:p.P56T,ATF7:NM_001130060:exon5:c.C331A:p.P111T,ATF7:NM_001366555:exon5:c.C364A:p.P122T,ATF7:NM_001366556:exon5:c.C331A:p.P111T,ATF7:NM_001366558:exon5:c.C331A:p.P111T,ATF7-NPFF:NM_001366559:exon5:c.C331A:p.P111T,ATF7-NPFF:NM_001366560:exon5:c.C331A:p.P111T,ATF7:NM_006856:exon5:c.C331A:p.P111T	.	425	1088	8	1	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0359057063779	0.0002	0.000399361	0.0003	0.0003	0	0	0	0.0005	0	0.0002	0.0002975	46	154602	rs149888264	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0003	0.0041	0.0036	0.0010	8.945e-05	3.826e-05	0	0	0.0057	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0	0	0	0.0204	0.0003	0	0.0004	0.128	0.34269	T	0.043	0.59732	D	0.467	0.36479	P	0.186	0.36104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	0.85	0.91903	T	-2.78	0.59059	D	0.383	0.42443	-0.5327	0.67439	T	0.283	0.65488	T	10	0.14785448	0.28009	T	0.035906	0.56650	D	0.236	0.53931	.	.	0.840094896213	0.83856	0.5888306637310861	0.58813	0.252438216393	0.69766	0.70073890686	0.67250	T	0.536298	0.84043	D	0.084898	0.62609	D	0.216238	0.83985	D	0.13726801167108	0.16038	T	0.890411	0.85620	D	0.35607493	0.57536	0.25764865	0.51484	0.35607493	0.57536	0.25764865	0.51484	-4.279	0.27881	T	.	.	0.104	0.35746	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.893792	0.56671	23.8	0.98797253601276025	0.46397	0.99061	0.90654	D	AEFBI	0.687049	0.64852	D	0.563288471372921	0.70895	5.569178	0.607363711838814	0.75474	6.31682	0.99999999660382	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.474000	0.80024	9.914000	0.82450	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.592	0.87900	475	0.77788	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008081	0.005051	0.009511	0.011696	0.000000	0.017241	0.006135	0.000000	0.02632	816.33	33	chr12	53537486	.	G	T	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=689;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.347;SOR=0.326	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1292	18	0	1	0
chr12	53669331	53669331	C	G	exonic	ATP5MC2	.	nonsynonymous SNV	ATP5MC2:NM_001002031:exon4:c.G176C:p.S59T,ATP5MC2:NM_001330269:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369755:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369756:exon4:c.G14C:p.S5T,ATP5MC2:NM_001369757:exon4:c.G16C:p.A6P,ATP5MC2:NM_001369758:exon4:c.G122C:p.S41T,ATP5MC2:NM_005176:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369753:exon5:c.G128C:p.S43T,ATP5MC2:NM_001369754:exon5:c.G128C:p.S43T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00692666871578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.20607	T	0.313	0.22761	T	0.381	0.53620	B	0.126	0.46637	B	0.192749	0.16803	N	0.637879	0.969023	0.25774	N	1.705	0.44259	L	1.93	0.23486	T	-0.89	0.24026	N	0.116	0.11340	-1.0683	0.09791	T	0.050	0.21222	T	10	0.05921641	0.07085	T	0.006927	0.18345	T	0.036	0.09122	0.239	0.17065	0.393623145366	0.38971	0.4293973935783408	0.42856	0.258986536561	0.28452	0.289695978165	0.08878	T	0.012	0.10472	T	-0.272836	0.11443	T	-0.629687	0.10438	T	0.0814224987924297	0.10168	T	0.581942	0.21082	T	0.03199282	0.03142	0.048253644	0.07126	0.03199282	0.03141	0.048253644	0.07126	-4.641	0.33920	T	.	.	0.072	0.04080	B	.;.;.;.;.	.;.;.;.;.	1.185611	0.15766	12.09	0.81339823123545429	0.13637	0.45644	0.27584	N	AEFBI	0.546333	0.56048	D	-0.565613425534223	0.19996	1.050903	-0.581027141105531	0.19988	1.075	0.262543893305126	0.18806	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	2.22	0.27116	-0.320000	0.08070	0.009000	0.13411	-0.233000	0.07663	0.000000	0.06391	0.122000	0.22912	0.679000	0.33513	0.2758:0.6498:0.0:0.0744	9.014	0.35319	168	0.93464	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.33	35	chr12	53669331	.	C	G	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.083;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-1.494;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	54362857	54362857	T	C	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.A995G:p.Y332C	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.106184820731	0.0013	0.000199681	0.0011	0	0.0005	0	0	0.0017	0.0022	0.0007	0.0009832	152	154602	rs150704324	0.0008	0.0008	0.0008	0.0008	0.0068	0.0008	0.0007	0.0051	0.0045	0	0.0006	0.0200	0	0	0.0068	0.0004	0.0022	0.0006	0.0008	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0004	0.0003	9.62e-05	0	0.0007	0.0179	0	0	0.0068	0.0005	0.0033	0.0006	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.983	0.75793	D	0.000293	0.46274	D	0.089663	0.999761	0.48888	D	2.67	0.78151	M	-0.65	0.72237	T	-7.26	0.94377	D	0.538	0.56576	-0.0261	0.81713	T	0.469	0.79524	T	10	0.014356315	0.00302	T	0.106185	0.78167	D	0.677	0.88109	.	.	0.931720955166	0.93101	0.5538825875542404	0.55314	0.737078601177	0.63034	0.608478248119	0.54101	T	0.124844	0.45015	T	-0.110071	0.34755	T	-0.0224351	0.68869	D	0.172152265906334	0.18725	T	0.860314	0.55333	D	0.7123625	0.78737	0.6253901	0.78164	0.7123625	0.78739	0.6253901	0.78165	-7.925	0.60558	D	.	.	0.563	0.67348	A	.;.	.;.	4.784643	0.77582	26.7	0.99797690209349965	0.88283	0.91930	0.54572	D	AEFBI	0.733640	0.68002	D	0.597249857674267	0.73002	5.895525	0.555956366379404	0.71813	5.712343	0.999999233979371	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	4.409000	0.59524	7.837000	0.70361	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	12.528	0.55446	681	0.59854	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1523.33	34	chr12	54362857	.	T	C	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=761;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.118;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	18	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	209.59	144	chr12	54363394	.	G	A	209.59	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-4.23;DP=1750;ExcessHet=1.3;FS=194.631;InbreedingCoeff=-0.21;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.681;SOR=9.84	GT:AD:DP:GQ:PL	0/0:75,0:75:84:0,84,1986	11	0	5	3
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.07895	5584.79	35	chr12	54962733	.	G	A	5584.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.971;DP=1038;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.193;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	16	0	3	0
chr12	55027001	55027001	G	A	exonic	NEUROD4	.	nonsynonymous SNV	NEUROD4:NM_021191:exon2:c.G562A:p.D188N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0152583718769	0.0030	0.000798722	0.0014	0.0007	0.0010	0	0	0.0020	0	0.0008	0.0015524	240	154602	rs151143558	0.0033	0.0033	0.0033	0.0032	0.0039	0.0032	0.0031	0.0038	0.0038	0.0004	0.0020	0	0	0.0002	0.0009	0.0039	0.0039	0.0007	0.0026	0.0026	0.0029	0.0023	0.0039	0.0024	0.0023	0.0032	0.0031	0.0008	0.0559	0.0039	0	0	9.423e-05	0.0034	0.0036	0.0009	0.0010	0.006	0.61437	D	0.056	0.46632	T	0.101	0.25775	B	0.432	0.45448	B	0.000236	0.47286	D	0.214698	0.927932	0.36880	D	1.59	0.40313	L	-0.14	0.65006	T	-2.75	0.58407	D	0.087	0.06454	-0.4878	0.69086	T	0.292	0.66412	T	10	0.0080369115	0.00182	T	0.015258	0.35889	T	0.186	0.46104	.	.	0.857830542231	0.85645	.	.	0.020249272452	0.01990	0.381946474314	0.22532	T	0.194649	0.55049	T	-0.528179	0.00394	T	-0.529135	0.19374	T	0.0214500334031294	0.00849	T	0.749425	0.37065	T	0.29378405	0.52342	0.26948017	0.52829	0.29378405	0.52342	0.26948017	0.52828	-3.669	0.18861	T	.	.	0.093	0.14062	B	.	.	3.588584	0.50628	23.0	0.99863247595576232	0.94184	0.98681	0.85513	D	AEFBI	0.736662	0.68210	D	0.314683275977318	0.56902	3.855728	0.458572523819068	0.65270	4.802554	0.999999453827063	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	6.893000	0.75468	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.401	0.87350	845	0.36510	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2182.33	41	chr12	55027001	.	G	A	2182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.85;DP=989;ExcessHet=0;FS=4.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.151;SOR=0.946	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr12	55130037	55130037	A	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.A269G:p.N90S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00431344909494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771600693	1.376e-06	1.301e-05	1.369e-06	1.382e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.916e-05	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.178	0.29639	T	0.985	0.61118	D	0.86	0.61233	P	0.000042	0.53742	D	0.000000	0.504326	0.31767	D	1.62	0.41497	L	2.65	0.12676	T	-3.15	0.64132	D	0.176	0.18920	-0.9843	0.33998	T	0.076	0.30645	T	10	0.28129894	0.45706	T	0.004313	0.10467	T	0.144	0.38394	0.467	0.53891	0.454145904683	0.45038	0.395301661808567	0.39445	0.0199640575762	0.01959	0.255974888802	0.04423	T	0.013731	0.11823	T	-0.242355	0.15051	T	-0.585903	0.14022	T	0.806055068969727	0.46770	D	0.713029	0.32487	T	0.20844452	0.43081	0.3065049	0.56675	0.20844452	0.43081	0.3065049	0.56675	-5.812	0.44679	T	.	.	0.110	0.24532	B	.;.;.	.;.;.	3.261191	0.44598	22.0	0.99814947840031498	0.89885	0.92047	0.54827	D	AEFBI	0.357541	0.44853	N	0.512638152296228	0.67835	5.135115	0.487860843091837	0.67183	5.050222	0.0100889562602125	0.11964	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	3.250000	0.51146	.	.	0.754000	0.88378	0.058000	0.21700	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.810	0.69612	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	590.71	105	chr12	55130037	.	A	G	590.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.046;DP=2301;ExcessHet=0;FS=150.839;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=2.98;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800:.	17	0	1	1
chr12	55130039	55130039	C	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.C271G:p.L91V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00235805217404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75e-05	0.0007	2.6e-05	2.901e-05	6.004e-05	2.073e-05	1.825e-05	2.467e-05	2.154e-05	6.004e-05	0	0	0	0	0	3.344e-05	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000420	0.44736	D	0.000000	0.975331	0.39180	D	4.085	0.97236	H	6.92	0.00469	T	-2.78	0.58896	D	0.63	0.64393	-1.0043	0.28666	T	0.009	0.03011	T	10	0.3121304	0.48676	T	0.002358	0.04590	T	0.283	0.60100	0.361	0.36548	0.616060826097	0.61296	0.30525128378403127	0.30438	0.0537722388586	0.05938	0.276238977909	0.06973	T	0.109156	0.42279	T	0.171627	0.71273	D	0.0087536	0.70902	D	0.997965693473816	0.92874	D	0.981335	0.93623	D	0.8984238	0.91242	0.870756	0.92918	0.8984238	0.91243	0.870756	0.92918	-8.965	0.67471	D	.	.	0.200	0.45446	B	.;.;.	.;.;.	4.194490	0.63243	24.6	0.9984402775315363	0.92403	0.71179	0.34902	D	AEFBI	0.412549	0.48258	N	0.561495608912438	0.70784	5.552713	0.432776426690039	0.63619	4.599258	0.144675334062335	0.17336	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	0.473000	0.21843	.	.	0.597000	0.34315	0.050000	0.21411	0.000000	0.08366	0.998000	0.85391	0.0:1.0:0.0:0.0	18.425	0.90553	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	105	chr12	55130039	.	C	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.006;DP=2162;ExcessHet=0;FS=150.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=3.08;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800:.	18	0	1	0
chr12	55221535	55221535	C	T	exonic	OR10A7	.	nonsynonymous SNV	OR10A7:NM_001005280:exon1:c.C511T:p.P171S	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00150530038139	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0002	0.0022	0.0075	0.0009508	147	154602	rs367838102	0.0006	0.0006	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	2.989e-05	6.716e-05	0	0	0	0.0031	0.0001	0.0007	0.0076	0.0003	0.0003	9.005e-05	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	2.411e-05	0	6.555e-05	0	0	0	0	0.0001	0	0.0056	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.021	0.19346	B	0.198540	0.16660	N	0.436240	1	0.08975	N	0.285	0.10073	N	1.26	0.36330	T	-1.83	0.42957	N	0.06	0.03175	-0.9826	0.34398	T	0.032	0.13592	T	10	0.004301727	0.00087	T	0.001505	0.02318	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.11984255135624997	0.11911	0.00681914297256	0.00599	0.213614076376	0.00974	T	0.005473	0.04921	T	-0.650012	0.00072	T	-0.702608	0.05684	T	0.0133116029544729	0.00239	T	0.265873	0.04359	T	0.05275046	0.09883	0.06471085	0.13009	0.05275046	0.09883	0.06471085	0.13008	-5.319	0.40131	T	.	.	0.113	0.22428	B	.	.	-0.252960	0.02830	0.394	0.33655348795752271	0.02016	0.00809	0.03284	N	AEFBI	0.021484	0.00961	N	-1.4426566734646	0.02275	0.1002911	-1.40663507546003	0.03185	0.1480628	1.8843351164111E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	-0.0317	0.13235	-4.069000	0.00341	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.775000	0.36711	0.0:0.3655:0.0:0.6345	7.704	0.27805	862	0.33134	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2792.33	41	chr12	55221535	.	C	T	2792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=843;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.65;SOR=0.823	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	55294632	55294632	C	G	exonic	OR6C6	.	nonsynonymous SNV	OR6C6:NM_001005493:exon1:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00553845578433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.988	0.77976	D	0.000090	0.51296	D	0.000000	1	0.08975	N	3.165	0.88605	M	1.08	0.39401	T	-4.9	0.81514	D	0.412	0.45237	-0.6083	0.64474	T	0.319	0.68813	T	10	0.68593127	0.71561	D	0.005538	0.14288	T	0.217	0.51112	0.69	0.82748	0.635979805963	0.63298	0.3398642693792814	0.33899	0.0464318094695	0.05045	0.195644497871	0.00341	T	0.01551	0.12998	T	0.0620346	0.59868	T	-0.148668	0.59363	T	0.991829097270966	0.82178	D	0.957604	0.84033	D	0.924358	0.93675	0.8617482	0.92298	0.924358	0.93676	0.8617482	0.92298	-10.988	0.79593	D	.	.	0.519	0.65457	A	.	.	2.662216	0.34688	19.70	0.99682644589503966	0.79373	0.07283	0.13306	N	AEFI	0.137786	0.25887	N	0.289968540505045	0.55638	3.727939	0.0631401076159905	0.42710	2.588222	1.60119879274923E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	-0.048000	0.11898	.	.	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.8333:0.1667:0.0	12.682	0.56294	862	0.33134	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2137.33	40	chr12	55294632	.	C	G	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=991;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.781;SOR=0.525	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R	.	428	1048	45	1	0	47	0.0219319	.	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030211	0.040404	0.032609	0.040936	0.000000	0.034483	0.009146	0.011364	0.02632	2482.33	43	chr12	55321464	.	A	C	2482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.031;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.543;SOR=0.663	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.020202	0.012228	0.014620	0.000000	0.008621	0.006098	0.003788	0.02632	1164.33	33	chr12	55452341	.	T	C	1164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=759;ExcessHet=0;FS=1.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.544;SOR=0.879	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr12	55469526	55469526	G	A	exonic	OR6C70	.	nonsynonymous SNV	OR6C70:NM_001005499:exon1:c.C613T:p.L205F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0034652601323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.12	0.35970	T	0.986	0.61523	D	0.928	0.66279	D	0.161515	0.17649	N	0.469317	1	0.08975	N	1.83	0.48079	L	1.52	0.30669	T	-3.56	0.68880	D	0.03	0.00717	-1.0442	0.16059	T	0.114	0.40559	T	10	0.18694893	0.34183	T	0.003465	0.07817	T	0.071	0.20720	0.494	0.58206	0.107399877778	0.10242	0.06369275577210844	0.06308	0.0386921261483	0.04117	0.190446466208	0.00233	T	0.020844	0.16335	T	-0.347516	0.04884	T	-0.736959	0.04019	T	0.388156596604186	0.28495	T	0.79692	0.44048	T	0.19156212	0.40788	0.24477826	0.49952	0.19156212	0.40788	0.24477826	0.49951	-8.38	0.63632	D	.	.	0.116	0.23290	B	.	.	1.776472	0.22588	15.68	0.99303967684641548	0.58722	0.01354	0.04641	N	AEFI	0.035995	0.04725	N	-0.337526787687154	0.27733	1.523984	-0.575010748575177	0.20145	1.084066	1.28502387716234E-4	0.05386	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	2.11	0.26299	-1.804000	0.01834	.	.	0.637000	0.52028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2706:0.0:0.5126:0.2168	3.669	0.07802	771	0.49057	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2619.33	209	chr12	55469526	.	G	A	2619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=1983;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.274;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr12	55492463	55492463	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T86C:p.L29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00110185151161	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771504396	5.473e-06	5.472e-06	5.446e-06	5.501e-06	8.117e-05	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	8.994e-07	0	8.117e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.001649	0.38382	N	0.000000	0.537569	0.31439	N	3.735	0.94896	H	6.43	0.00538	T	-6.14	0.90140	D	0.628	0.64223	-1.1315	0.01712	T	0.011	0.04134	T	10	0.74222106	0.75038	D	0.001102	0.01312	T	0.182	0.45420	.	.	0.173771789658	0.16945	0.49795367936289026	0.49716	0.0151980745453	0.01445	0.227028742433	0.01756	T	0.117275	0.43725	T	-0.115598	0.33847	T	-0.167157	0.57704	T	0.74813389560018	0.43182	D	0.772623	0.40374	T	0.91629463	0.92890	0.83508486	0.90516	0.91629463	0.92891	0.83508486	0.90517	-14.332	0.94086	D	.	.	0.211	0.43842	B	.	.	2.826645	0.37253	20.4	0.99745173380248664	0.83778	0.32415	0.24579	N	AEFI	0.203830	0.33031	N	0.253107170522361	0.53792	3.546755	0.0274947016245607	0.40995	2.455679	0.0148885184969795	0.12650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.418000	0.44316	.	.	0.650000	0.52971	0.036000	0.20778	0.013000	0.20296	0.012000	0.09680	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4065.81	33	chr12	55492463	.	T	C	4065.81	.	AC=2;AF=0.053;AN=38;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=1.234	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	1	0	0
chr12	55682056	55682056	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C302T:p.P101L	.	428	1068	25	1	0	27	0.0124827	.	.	.	2807068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0016	0.00339457	0.0039	0.0007	0.0018	0	0.0012	0.0031	0.0066	0.0139	0.0036351	562	154602	rs74421938	0.0033	0.0033	0.0029	0.0036	0.0132	0.0032	0.0032	0.0126	0.0123	0.0003	0.0014	0.0077	0.0001	0.0013	0.0061	0.0027	0.0041	0.0132	0.0025	0.0025	0.0022	0.0028	0.0124	0.0023	0.0022	0.0099	0.0090	0.0002	0	0.0027	0.0104	0.0004	0.0008	0.0170	0.0032	0.0024	0.0124	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.056709	1	0.81001	D	2.395	0.69210	M	2.72	0.11947	T	-8.76	0.97728	D	0.338	0.46368	-1.1192	0.02383	T	0.089	0.34243	T	10	0.005673617	0.00126	T	.	.	.	0.164	0.42212	.	.	0.19168177325	0.18762	0.7348329751165945	0.73428	0.194749562008	0.21814	0.3963291049	0.24558	T	0.122517	0.51904	T	-0.286182	0.10023	T	-0.172181	0.57243	T	0.0387949447783039	0.03473	T	0.914708	0.69569	D	0.70939714	0.78574	0.76081944	0.85868	0.70939714	0.78576	0.76081944	0.85869	-9.442	0.70498	D	.	.	0.140	0.42990	B	.;.	.;.	4.743244	0.76508	26.5	0.99884078234488494	0.95970	0.80138	0.39856	D	AEFDBCI	0.883580	0.81260	D	0.603211661679791	0.73378	5.956283	0.573433445571181	0.73041	5.906074	0.999999997461108	0.74766	0.446893	0.09132	0	0.475579	0.06741	0	0.043771	0.00183	3	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	2.511000	0.45137	.	.	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.995000	0.73285	0.0:1.0:0.0:0.0	15.78	0.78023	725	0.54935	Methyltransferase type 11;Methyltransferase type 11	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.034091	0.02632	2170.33	33	chr12	55682056	.	C	T	2170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=779;ExcessHet=0;FS=3.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.275;SOR=1.031	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr12	55683907	55683907	T	C	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon2:c.T593C:p.I198T	.	428	1090	4	0	0	4	0.0018315	.	.	.	3343630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00815921010394	7.7e-05	.	0.0003	0	0.0006	0	0	0.0002	0.0011	0.0013	0.0002781	43	154602	rs369422527	0.0002	0.0002	0.0002	0.0003	0.0051	0.0002	0.0002	0.0036	0.0031	8.961e-05	0.0006	0	0	0	0.0051	9.263e-05	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0003	0	0	0	0	0.0002	0.0009	0.0015	0.018	0.50676	D	0.024	0.64786	D	0.565	0.38434	P	0.201	0.36881	B	0.080654	0.20912	N	0.499382	0.903816	0.36236	D	1.77	0.45869	L	2.03	0.20959	T	-2.32	0.51478	N	0.374	0.41557	-1.0680	0.09858	T	0.046	0.19879	T	10	0.024705857	0.00689	T	0.008159	0.21623	T	0.188	0.46444	.	.	0.043077524339	0.03247	0.15234584201379014	0.15156	0.0495549813721	0.05433	0.492167234421	0.37740	T	0.087619	0.37982	T	-0.418799	0.01741	T	-0.393367	0.34157	T	0.084445006545753	0.10545	T	0.833317	0.50212	T	0.0833133	0.19234	0.08952104	0.20937	0.0833133	0.19234	0.08952104	0.20937	-6.948	0.53654	T	.	.	0.211	0.51532	B	.;.	.;.	3.150840	0.42657	21.6	0.93795338957903918	0.23762	0.97111	0.72754	D	AEFBI	0.939063	0.93915	D	-0.26560889023581	0.30485	1.700275	-0.279017255950245	0.28790	1.607979	0.996201076390436	0.34592	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.01	2.84	0.32241	6.774000	0.74807	.	.	-0.147000	0.12262	0.889000	0.31176	0.764000	0.26647	0.618000	0.31844	0.0:0.0:0.1914:0.8086	8.765	0.33859	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1305.33	34	chr12	55683907	.	T	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.258;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.173;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr12	55707505	55707505	G	A	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001144996:exon1:c.C178T:p.R60W,ITGA7:NM_001374465:exon1:c.C178T:p.R60W,ITGA7:NM_002206:exon1:c.C178T:p.R60W	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1048040	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.126101923017	.	.	2.561e-05	0.0001	0	0	0	0	0.0012	6.077e-05	1.94e-05	3	154602	rs374374611	1.232e-05	1.3e-05	1.089e-05	1.375e-05	3.478e-05	7.7e-06	6.35e-06	9.24e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	3.478e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.246	0.17353	T	0.158	0.31629	T	0.194	0.29493	B	0.078	0.28627	B	0.009480	0.30346	N	0.212708	0.942066	0.81001	D	1.845	0.48678	L	-0.57	0.71307	T	-3.38	0.67941	D	0.604	0.62188	-0.5329	0.67432	T	0.308	0.67886	T	10	0.44735232	0.58481	T	0.126102	0.80772	D	0.271	0.58633	.	.	0.857329924347	0.85595	0.6306297469272208	0.62996	0.672519097179	0.59533	0.69465303421	0.66374	T	0.140974	0.89703	T	-0.134805	0.30720	T	-0.249268	0.49888	T	0.818646609783173	0.47671	D	0.841416	0.62583	T	0.11353981	0.26813	0.12895861	0.31016	0.11353981	0.26813	0.12895861	0.31015	-8.121	0.62385	D	.	.	0.114	0.36986	B	.;.;.;.	.;.;.;.	3.587490	0.50608	23.0	0.99881934859775623	0.95813	0.67307	0.33385	D	AEFDBHCIJ	0.773004	0.70715	D	-0.0366440462996913	0.40202	2.383407	0.017909473975578	0.40547	2.421556	0.999999999439687	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.504199	0.09095	0	0.554799	0.18163	0	.	.	4.88	2.98	0.33575	1.390000	0.34072	.	.	-0.153000	0.12021	0.999000	0.42656	0.999000	0.35428	0.996000	0.76049	0.0:0.1588:0.514:0.3273	7.880	0.28781	711	0.56613	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	510.33	34	chr12	55707505	.	G	A	510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=696;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-0.885;SOR=0.846	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1351	18	0	1	0
chr12	55721281	55721281	A	G	exonic	RDH5	.	nonsynonymous SNV	RDH5:NM_001199771:exon2:c.A97G:p.I33V,RDH5:NM_002905:exon2:c.A97G:p.I33V	Fundus albipunctatus, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254632	not_provided|Pigmentary_retinal_dystrophy|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.466	.	0.0015	0.000798722	0.0022	0.0003	0.0004	0	0.0159	0.0022	0.0011	0.0005	0.001934	299	154602	rs62638195	0.0023	0.0023	0.0023	0.0022	0.0019	0.0022	0.0022	0.0018	0.0018	0.0002	0.0007	0	0	0.0195	0	0.0019	0.0022	0.0003	0.0025	0.0025	0.0017	0.0032	0.0015	0.0023	0.0022	0.0013	0.0012	0.0002	0	0.0009	0	0	0.0231	0	0.0015	0.0014	0.0006	0.048	0.40068	D	0.105	0.38016	T	0.718	0.42284	P	0.309	0.41361	B	0.000001	0.84330	D	0.054615	0.96354	0.81001	D	1.19	0.30124	L	-3.01	0.92208	D	-0.86	0.23372	N	0.258	0.29313	-0.0783	0.80591	T	0.539	0.82980	D	10	0.010990709	0.00242	T	.	.	.	0.466	0.76156	.	.	0.848941654413	0.84749	0.5768467101811158	0.57613	0.15462076254	0.17463	0.501281201839	0.39007	T	0.519126	0.83150	D	-0.210436	0.19319	T	-0.0882833	0.64291	T	0.0362439026230048	0.03023	T	0.831417	0.49863	T	0.18761584	0.40224	0.129267	0.31086	0.1986735	0.41778	0.16714047	0.38575	-5.435	0.41255	T	.	.	0.161	0.36295	B	.;.	.;.	2.526177	0.32649	19.11	0.99846897787238187	0.92663	0.70601	0.34658	D	ALL	0.712446	0.66557	D	-0.0473666247754255	0.39719	2.346913	0.040474343442311	0.41615	2.503038	0.999999999999995	0.74766	0.658043	0.49183	0	0.552637	0.17590	0	0.659943	0.59835	0	0.607083	0.38531	0	.	.	5.11	3.94	0.44807	2.401000	0.44166	.	.	0.756000	0.94297	0.975000	0.34726	1.000000	0.68203	0.997000	0.79791	0.9144:0.0:0.0856:0.0	9.549	0.38464	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	40	chr12	55721281	.	A	G	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.859;DP=733;ExcessHet=0;FS=2.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.734;SOR=1.035	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	18	0	1	0
chr12	55840776	55840776	G	T	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon4:c.C411A:p.S137R,MMP19:NM_002429:exon4:c.C411A:p.S137R	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.00944341897423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.981	0.59675	D	0.892	0.63276	P	0.000000	0.84330	N	0.117279	0.953346	0.43448	D	2.835	0.82492	M	2.24	0.20523	T	-4.0	0.75375	D	0.419	0.47487	-1.0231	0.22704	T	0.120	0.41971	T	10	0.6432967	0.69181	D	0.009443	0.24739	T	0.284	0.60219	0.738	0.87063	0.743870888195	0.74156	0.9198795844221287	0.91963	0.133008016665	0.14980	0.470746874809	0.34783	T	0.283361	0.65611	T	-0.0724	0.40942	T	-0.341774	0.40145	T	0.985667288303375	0.76591	D	0.743826	0.42203	T	0.7883991	0.83173	0.720629	0.83504	0.7883991	0.83175	0.720629	0.83505	-8.991	0.67639	D	.	.	0.427	0.71766	A	.;.;.	.;.;.	3.302123	0.45331	22.1	0.83967312739612765	0.15021	0.77096	0.37870	D	AEFBI	0.404170	0.47756	N	0.239447200915932	0.53120	3.482315	0.067210981234079	0.42911	2.603987	0.790709844881093	0.24010	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.8	0.571	0.16537	1.578000	0.36135	.	.	0.676000	0.76740	0.983000	0.35670	0.915000	0.28207	0.983000	0.59808	0.2261:0.0:0.5142:0.2597	4.616	0.11814	697	0.58201	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	33	chr12	55840776	.	G	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.013;DP=739;ExcessHet=0;FS=1.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=1.19;SOR=0.536	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	55902291	55902291	C	G	exonic	PYM1	.	nonsynonymous SNV	PYM1:NM_001143853:exon3:c.G193C:p.E65Q,PYM1:NM_032345:exon3:c.G196C:p.E66Q	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00599042	0.0024	0	0	0.0320	0	0.0002	0.0022	0.0003	0.0022703	351	154602	rs3802998	0.0009	0.0009	0.0009	0.0009	0.0304	0.0009	0.0009	0.0289	0.0284	0	2.236e-05	0	0.0304	1.872e-05	0.0003	2.428e-05	0.0012	0.0005	0.0012	0.0012	0.0009	0.0014	0.0317	0.0010	0.0010	0.0277	0.0262	0	0	0.0001	0	0.0317	0	0	4.41e-05	0.0019	0.0006	0.069	0.35537	T	0.259	0.33330	T	0.988	0.77913	D	0.676	0.67921	P	0.004820	0.33369	N	0.288142	0.999964	0.81001	D	.	.	.	1.38	0.34253	T	-1.68	0.40082	N	0.097	0.07811	-1.0680	0.09858	T	0.067	0.27640	T	10	0.0042446554	0.00085	T	.	.	.	0.181	0.45247	.	.	0.573516848353	0.57020	0.3115044351131303	0.31063	0.983668549786	0.73829	0.478855699301	0.35899	T	0.073101	0.34616	T	-0.537444	0.00347	T	-0.513361	0.20970	T	0.0541548762925271	0.06215	T	0.812519	0.46414	T	0.16093901	0.36068	0.10778246	0.25953	0.16093901	0.36068	0.10778246	0.25952	-2.272	0.04404	T	.	.	0.124	0.28492	B	.;.	.;.	4.258825	0.64710	24.7	0.99731889382789152	0.82833	0.98768	0.86602	D	AEFDBI	0.753532	0.69369	D	0.540309224475647	0.69492	5.364881	0.561068739460548	0.72171	5.767904	0.999999999916539	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	4.701000	0.61496	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.757	0.88362	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	590.33	44	chr12	55902291	.	C	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=783;ExcessHet=0;FS=5.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.217;SOR=1.577	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	56095676	56095676	T	C	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon17:c.T1925C:p.L642P	Lethal congenital contractural syndrome 2, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0399476226714	7.7e-05	.	3.295e-05	0	0	0	0	4.495e-05	0.0011	0	3.88e-05	6	154602	rs371005132	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0007	1.674e-05	1.477e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.338e-05	3.311e-05	1.159e-05	2.628e-05	2.627e-05	1.284e-05	4.033e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.297	0.14645	T	0.147	0.35582	T	0.393	0.34680	B	0.081	0.28987	B	0.897593	0.08644	N	0.946865	0.999996	0.81001	D	-0.42	0.02904	N	-1.27	0.79277	T	1.19	0.01121	N	0.7	0.70439	-0.9849	0.33856	T	0.135	0.45049	T	10	0.18788236	0.34319	T	0.039948	0.59099	D	0.381	0.69863	.	.	0.812937831155	0.81118	0.8887253318426831	0.88841	0.527645820895	0.50370	0.450555771589	0.32020	T	0.356443	0.72329	T	-0.0424577	0.45583	T	-0.191107	0.55486	T	0.0594436563551426	0.07080	T	0.555444	0.19245	T	0.2679759	0.49870	0.11884313	0.28685	0.2679759	0.49870	0.11884313	0.28684	-6.431	0.49751	T	0.04947689789597957	0.00813	0.146	0.60820	B	.;.;.	.;.;.	3.122584	0.42162	21.5	0.97079033404623527	0.32272	0.84473	0.43555	D	AEFBI	0.364900	0.45327	N	-0.432719006090398	0.24329	1.312916	-0.199303346240622	0.31562	1.787385	0.999012447866335	0.38212	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.63947	0.58350	0	.	.	5.1	3.96	0.45097	2.058000	0.41001	6.180000	0.54618	0.660000	0.55035	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0:0.1864:0.0:0.8136	6.392	0.20792	451	0.79296	.;.;Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1177.33	34	chr12	56095676	.	T	C	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.301;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.035;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	18	0	1	0
chr12	56101591	56101593	GAA	-	exonic	ERBB3	.	nonframeshift deletion	ERBB3:NM_001982:exon28:c.3565_3567del:p.E1191del	Lethal congenital contractural syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	513613	not_provided|Lethal_congenital_contracture_syndrome_1	MedGen:C3661900|MONDO:MONDO:0009670,MedGen:C1854664,OMIM:253310,Orphanet:1486	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	7.413e-05	9.61e-05	0	0.0001	0	8.991e-05	0	6.056e-05	5.82e-05	9	154602	rs780883720	6.43e-05	6.43e-05	5.717e-05	7.15e-05	0.0001	5.361e-05	4.976e-05	5.804e-05	4.484e-05	2.987e-05	0.0001	0	0.0001	0.0001	0	6.115e-05	6.623e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0001	6.518e-05	5.328e-05	4.747e-05	3.059e-05	0.0001	0	6.552e-05	0	0	0.0004	0	8.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2354.29	38	chr12	56101590	.	TGAA	T	2354.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=-1.491;SOR=0.758	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr12	56164606	56164606	G	A	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon27:c.C3265T:p.P1089S,SMARCC2:NM_001330288:exon28:c.C3358T:p.P1120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0315628630574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989944014	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.237e-05	0	0	0	0.0002	9.893e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.227	0.25438	T	0.909	0.50183	P	0.901	0.63994	P	0.821401	0.09175	U	0.848157	0.960518	0.81001	D	0	0.06538	N	0.91	0.44856	T	-1.0	0.26422	N	0.403	0.44952	-1.0119	0.26322	T	0.156	0.48738	T	9	0.25472355	0.42855	T	0.031563	0.53618	D	0.168	0.42943	0.3	0.26683	0.323442020237	0.31956	0.14847466651580957	0.14769	0.152227497564	0.17174	0.72133398056	0.70241	T	0.012538	0.29813	T	-0.0925095	0.37663	T	-0.37066	0.36811	T	0.622044618860861	0.37290	D	0.844715	0.52235	T	0.108153	0.25573	0.10307846	0.24724	0.108153	0.25572	0.10307846	0.24723	-7.173	0.55288	T	.	.	0.073	0.06571	B	.;.	.;.	4.090794	0.60926	24.3	0.99404217583984322	0.62934	0.59566	0.30951	D	AEFDBHCI	0.625872	0.60891	D	0.457898949989489	0.64654	4.724702	0.516813062017985	0.69119	5.315358	0.999999997773424	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.471000	0.59915	9.914000	0.82450	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	14.773	0.69315	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	33	chr12	56164606	.	G	A	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.183;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.431;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1354	18	0	1	0
chr12	56169779	56169779	T	C	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon23:c.A2452G:p.I818V,SMARCC2:NM_001130420:exon24:c.A2545G:p.I849V,SMARCC2:NM_001330288:exon24:c.A2545G:p.I849V,SMARCC2:NM_139067:exon24:c.A2545G:p.I849V	.	408	1112	1	1	0	3	0.0013471	.	.	.	3732992	Coffin-Siris_syndrome_8	MONDO:MONDO:0032702,MedGen:C5193054,OMIM:618362	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00336254528447	0.0002	0.000199681	0.0001	0.0002	0	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs199867483	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	8.961e-05	0.0001	7.653e-05	0	3.745e-05	0.0024	0.0001	0.0002	5.797e-05	9.851e-05	9.842e-05	8.995e-05	0.0001	0.0002	6.003e-05	4.877e-05	9.049e-05	7.013e-05	2.406e-05	0	6.539e-05	0	0	0	0	0.0002	0.0009	0	0.903	0.09572	T	0.643	0.06903	T	0.0	0.02946	B	0.0	0.01387	B	0.397826	0.04516	N	1.359380	1	0.08975	N	-0.55	0.02420	N	1.19	0.41750	T	0.4	0.03463	N	0.1	0.08227	-1.0387	0.17709	T	0.047	0.20275	T	10	0.014343262	0.00302	T	0.003363	0.07512	T	0.019	0.03383	.	.	0.253981072376	0.25009	0.06389713169457839	0.06328	0.754518039693	0.63944	0.247512504458	0.03510	T	0.005965	0.27439	T	-0.505074	0.00535	T	-0.668446	0.07708	T	0.00703889746555691	0.00080	T	0.711729	0.32279	T	0.034970645	0.04029	0.028773911	0.01146	0.034970645	0.04028	0.028773911	0.01146	-1.62	0.02342	T	.	.	0.053	0.00274	B	.;.;.;.	.;.;.;.	2.812035	0.37022	20.4	0.75761297507529946	0.11201	0.05814	0.11753	N	AEFGBCI	0.042206	0.06520	N	-1.02153297738787	0.08158	0.3815237	-0.95438996448813	0.10821	0.5475246	0.995973899786649	0.34444	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.17	-0.506	0.11391	-1.452000	0.02492	-2.266000	0.03976	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.3113:0.1331:0.5557	6.039	0.18948	252	0.90114	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2632.33	34	chr12	56169779	.	T	C	2632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.926;DP=886;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.05;SOR=0.88	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1399	18	0	1	0
chr12	56267173	56267173	C	A	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_144576:exon1:c.C55A:p.R19S	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00259585	0.0141	0	0	0	0	0	0	0.0247	0.0020698	320	154602	rs568001082	0.0008	0.0021	0.0008	0.0008	0.0499	0.0008	0.0007	0.0464	0.0450	0.0004	0.0499	0	0.0080	0	0.0009	4.341e-05	0.0011	0.0019	0.0038	0.0038	0.0032	0.0044	0.0309	0.0035	0.0034	0.0286	0.0277	0.0009	0	0.0309	0	0.0078	0	0	0.0001	0.0014	0.0031	0.702	0.04148	T	0.421	0.14075	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999732	0.20548	N	-0.55	0.02420	N	2.0	0.21473	T	-0.24	0.10833	N	0.099	0.08088	-0.9627	0.38664	T	0.013	0.04843	T	9	0.002100557	0.00030	T	.	.	.	0.030	0.07022	0.285	0.24280	.	.	0.4475894258616116	0.44676	0.297847266594	0.32164	0.838425993919	0.87855	D	0.013244	0.11493	T	-0.588296	0.00172	T	-0.521106	0.20182	T	0.0211582721060911	0.00818	T	0.435056	0.11905	T	0.08988719	0.21017	0.054577522	0.09415	0.08988719	0.21016	0.054577522	0.09414	-4.163	0.26214	T	.	.	0.132	0.28578	B	.	.	0.651451	0.10201	6.939	0.75566767454852679	0.11125	0.10308	0.15851	N	ALL	0.071155	0.14154	N	-1.27055219993076	0.04035	0.1813595	-1.22553272380864	0.05502	0.2623492	0.999999999996666	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.95	-1.75	0.07598	0.036000	0.13706	0.170000	0.15507	-0.291000	0.06292	0.061000	0.21800	0.016000	0.20520	0.054000	0.15518	0.2734:0.3268:0.2991:0.1007	2.242	0.03777	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.000000	0.000000	0.000000	0.009434	0.000000	0.000000	0.02632	531.33	26	chr12	56267173	.	C	A	531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.24;SOR=0.593	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,721	18	0	1	0
chr12	56267228	56267228	C	T	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_144576:exon1:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0207018733498	.	.	7.35e-05	0	0	0	0	6.261e-05	0	0.0003	4.53e-05	7	154602	rs759310240	3.111e-05	3.557e-05	2.681e-05	3.557e-05	0.0002	2.314e-05	2.083e-05	0.0001	0.0001	0	0	0	0	0	0	2.299e-05	3.704e-05	0.0002	1.989e-05	1.977e-05	0	4.075e-05	0.0004	5.29e-06	2.47e-06	7.372e-05	3.059e-05	0	0	0	0	0	9.524e-05	0	0	0	0.0004	0.119	0.28026	T	0.163	0.31125	T	0.041	0.21357	B	0.025	0.20508	B	.	.	.	.	0.998304	0.44746	D	0.695	0.17993	N	2.03	0.20959	T	0.0	0.07008	N	0.244	0.27554	-1.0910	0.05367	T	0.042	0.17952	T	9	0.07080364	0.10350	T	0.020702	0.43346	T	0.032	0.07718	0.293	0.25560	0.430126000877	0.42631	0.3985729985873948	0.39772	0.281482651218	0.30622	0.741092205048	0.73134	T	0.006031	0.05469	T	-0.277646	0.10920	T	-0.339036	0.40452	T	0.148184382796049	0.16958	T	0.530647	0.17608	T	0.08093527	0.18571	0.16238232	0.37723	0.08093527	0.18570	0.16238232	0.37722	-4.126	0.25672	T	.	.	0.099	0.16670	B	.	.	1.865666	0.23701	16.12	0.93461746542561686	0.23249	0.60571	0.31233	D	ALL	0.138910	0.26034	N	-0.393194054583693	0.25711	1.397734	-0.345327812691017	0.26653	1.473638	0.999999999999965	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.6	3.6	0.40374	2.732000	0.47024	1.645000	0.27813	0.580000	0.29708	0.465000	0.26683	0.015000	0.20450	0.059000	0.15899	0.0:1.0:0.0:0.0	10.954	0.46562	368	0.84463	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	439.33	28	chr12	56267228	.	C	T	439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.672;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1215	18	0	1	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L,COQ10A:NM_144576:exon5:c.G637C:p.V213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	42.62	119	chr12	56270210	.	G	C	42.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.192;DP=2004;ExcessHet=0.119;FS=216.299;InbreedingCoeff=-0.1135;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=1.71;SOR=10.494	GT:AD:DP:GQ:PL	0/0:109,0:109:24:0,24,2508	14	0	2	3
chr12	56311212	56311212	G	A	exonic	CNPY2	.	nonsynonymous SNV	CNPY2:NM_014255:exon4:c.C407T:p.A136V	.	.	.	.	.	.	.	.	0.9971	0.83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0110010963712	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.07e-05	1.29e-05	2	154602	rs762509546	3.147e-05	3.147e-05	3.676e-05	2.613e-05	0.0003	2.412e-05	2.158e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.418e-05	4.969e-05	3.478e-05	5.259e-05	5.254e-05	2.57e-05	8.074e-05	0.0001	2.558e-05	1.831e-05	2.262e-05	1.124e-05	4.83e-05	0	0.0001	0	0	0	0	5.881e-05	0	0	0.201	0.36509	T	0.133	0.37449	T	0.979	0.59044	D	0.606	0.50970	P	0.000002	0.62929	D	0.057857	1	0.81001	D	2.23	0.63091	M	1.21	0.37230	T	-2.74	0.61865	D	0.348	0.38950	-0.9494	0.41075	T	0.147	0.47273	T	10	0.54048145	0.63691	D	0.011001	0.28166	T	0.296	0.61616	0.51	0.60693	0.349647731962	0.34572	0.5475861538638231	0.54684	1.21689520862	0.80995	0.700053870678	0.67151	T	0.202752	0.56102	T	0.138688	0.68200	D	0.0582939	0.74132	D	0.966062784194946	0.67464	D	0.809319	0.49671	T	0.3479809	0.56909	0.324416	0.58366	0.3479809	0.56909	0.324416	0.58365	-9.687	0.72017	D	.	.	0.384	0.58686	A	.;.;.;.	.;.;.;.	4.479071	0.69862	25.4	0.99929889189507537	0.99279	0.97801	0.77233	D	AEFBCI	0.890256	0.82512	D	0.57056517544782	0.71343	5.636455	0.59464745472635	0.74554	6.157022	0.999999957955008	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	6.555000	0.73826	4.529000	0.43718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.098	0.89424	295	0.88218	.;Domain of unknown function DUF3456|Saposin B type domain;Domain of unknown function DUF3456;Domain of unknown function DUF3456	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1346.33	33	chr12	56311212	.	G	A	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.611;DP=697;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.694;SOR=0.388	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	18	0	1	0
chr12	56602784	56602784	C	T	exonic	BAZ2A	.	nonsynonymous SNV	BAZ2A:NM_001300905:exon19:c.G3353A:p.R1118H,BAZ2A:NM_013449:exon19:c.G3359A:p.R1120H,BAZ2A:NM_001351156:exon21:c.G3263A:p.R1088H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.323944048103	.	.	8.552e-06	0	9.061e-05	0	0	0	0	0	6.5e-06	1	154602	rs762340479	6.842e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-3.58	0.95761	D	-4.28	0.76334	D	0.808	0.80375	1.042	0.97945	D	0.920	0.97341	D	10	0.88337314	0.87656	D	0.323944	0.91556	D	0.935	0.98526	0.621	0.75576	0.986072005951	0.98591	0.9064855320272536	0.90621	0.956258092959	0.72833	0.673294663429	0.63307	T	0.568884	0.85692	D	0.483082	0.93808	D	0.539002	0.95407	D	0.999092698097229	0.96158	D	0.999644	0.99868	D	0.7049808	0.78330	0.5528945	0.74145	0.7049808	0.78332	0.5528945	0.74145	-11.335	0.81463	D	.	.	0.616	0.80074	P	.;.;.;.	.;.;.;.	4.907807	0.80724	27.4	0.99957901747785816	0.99986	0.99400	0.95542	D	AEFDGBI	0.894190	0.83290	D	0.860010038782452	0.89671	10.06825	0.83140941649564	0.91884	11.11982	0.999999999945973	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.843000	0.85133	6.019000	0.52765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.137	0.89553	73	0.96914	.;.;WHIM2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1241.33	33	chr12	56602784	.	C	T	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=716;ExcessHet=0;FS=6.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.988;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	18	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:70,0:70:0:.:.:0,0,1605:.	11	0	7	1
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	101.41	36	chr12	56716774	.	T	C	101.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.514;DP=1288;ExcessHet=0.7564;FS=97.022;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.033;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,12:81:28:.:.:0,28,1921:.	15	0	4	0
chr12	56718654	56718654	G	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C2876A:p.P959Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0023	0.000798722	0.0055	0.0006	0.0012	0	0.0254	0.0064	0.0028	0.0002	0.0041009	634	154602	rs201572567	0.0064	0.0053	0.0066	0.0062	0.0069	0.0063	0.0063	0.0068	0.0067	0.0006	0.0012	7.168e-05	0	0.0255	0.0009	0.0069	0.0047	0.0003	0.0040	0.0043	0.0039	0.0040	0.0046	0.0037	0.0036	0.0042	0.0040	0.0008	0	0.0016	0	0	0.0214	0.0047	0.0046	0.0027	0.0005	0.022	0.48642	D	0.119	0.36101	T	0.987	0.61912	D	0.701	0.54186	P	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-0.35	0.12847	N	0.11	0.09631	-0.9916	0.32193	T	0.142	0.46239	T	7	0.0042159855	0.00084	T	.	.	.	0.098	0.28162	.	.	0.215869574891	0.21205	.	.	.	.	.	.	.	0.054272	0.29678	T	-0.491097	0.00641	T	-0.476423	0.24828	T	0.0352494614255995	0.02851	T	0.407359	0.10471	T	0.08576484	0.19909	0.12916726	0.31062	0.08576484	0.19909	0.12916726	0.31061	-9.048	0.68006	D	.	.	0.159	0.35098	B	.	.	1.644400	0.20984	15.00	0.27562501691339109	0.01374	0.27979	0.23428	N	AEFDBCI	0.133745	0.25351	N	-0.471822125267663	0.23007	1.232493	-0.707242849562288	0.16780	0.8892981	0.999999611455912	0.74766	0.160855	0.03482	2	0.518115	0.08659	0	0.408882	0.06424	0	0.508809	0.08732	0	.	.	2.55	1.6	0.22686	0.238000	0.17782	-0.315000	0.10009	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.7985:0.2015	10.129	0.41839	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1196.33	38	chr12	56718654	.	G	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=1474;ExcessHet=0;FS=6.98;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0;QD=13.75;ReadPosRankSum=1.37;SOR=0.876	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	0	1	0
chr12	56720806	56720806	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G724A:p.A242T,NACA:NM_001365896:exon3:c.G724A:p.A242T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00573844219729	.	0.000199681	0.0003	0.0002	8.639e-05	0	0	0	0	0.0022	0.0002846	44	154602	rs547750565	0.0001	0.0001	7.624e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0.0001	0	0	0	0.0003	7.195e-06	0.0001	0.0019	0.0001	0.0001	7.714e-05	0.0002	0.0023	8.168e-05	6.724e-05	0.0013	0.0010	0.0002	0	6.548e-05	0	0	0	0	0	0	0.0023	1.0	0.00964	T	0.154	0.32040	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	1.39	0.33842	T	0.65	0.05917	N	0.021	0.00571	-0.9793	0.35162	T	0.030	0.13067	T	9	0.0048423707	0.00103	T	0.005738	0.14892	T	0.007	0.00512	0.225	0.14960	0.0297737177859	0.01360	0.027724948264289177	0.02722	0.0202767068331	0.01990	0.272259116173	0.06438	T	0.049146	0.28223	T	-0.723921	0.00026	T	-0.819423	0.01464	T	0.0028254545219868	0.00029	T	0.394561	0.09893	T	0.020774586	0.00649	0.04763409	0.06905	0.020774586	0.00648	0.04763409	0.06905	-3.506	0.17568	T	.	.	0.061	0.01026	B	.;.	.;.	-0.148461	0.03363	0.598	0.10430562423004196	0.00131	0.01253	0.04406	N	AEFDBCIJ	0.019250	0.00652	N	-1.66423336530477	0.00976	0.04231813	-1.70115655629059	0.01132	0.05090966	0.999980995899251	0.51787	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	2.99	-3.69	0.04162	-0.052000	0.11821	0.581000	0.19707	-0.210000	0.08370	0.009000	0.18154	0.990000	0.31317	0.003000	0.05239	0.0:0.1485:0.5399:0.3116	5.017	0.13685	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1545.33	38	chr12	56720806	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=923;ExcessHet=0;FS=5.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.343;SOR=0.866	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1130	18	0	1	0
chr12	56773955	56773955	A	T	exonic	HSD17B6	.	nonsynonymous SNV	HSD17B6:NM_003725:exon2:c.A103T:p.T35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.906	0.253981040706	.	0.000399361	4.949e-05	0	0	0	0	1.5e-05	0	0.0003	5.17e-05	8	154602	rs562369944	1.847e-05	1.847e-05	8.167e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.311e-05	0.0003	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.91255	D	0.015	0.61642	D	0.999	0.77913	D	0.986	0.76916	D	0.000675	0.42516	D	0.096640	0.99999	0.58761	D	2.35	0.67516	M	-3.27	0.93640	D	-3.77	0.74051	D	0.755	0.77413	1.015	0.97450	D	0.903	0.96799	D	10	0.91238445	0.90602	D	0.253981	0.89233	D	0.906	0.97436	0.923	0.98673	0.946637228521	0.94607	0.6341376563070938	0.63347	0.506379211434	0.48843	0.752071559429	0.74753	T	0.830557	0.95949	D	0.116508	0.66020	D	0.251546	0.85696	D	0.770402729511261	0.44464	D	0.928907	0.73860	D	0.6882687	0.77418	0.6013197	0.76837	0.6882687	0.77419	0.6013197	0.76837	-7.116	0.54875	T	.	.	0.334	0.67711	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.885258	0.56491	23.7	0.99684330935365029	0.79507	0.99526	0.97076	D	AEFDBI	0.968151	0.99062	D	0.9055483765668	0.92028	11.19444	0.837857981422829	0.92288	11.34033	0.99998519720763	0.51787	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	8.838000	0.91746	8.432000	0.77174	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	14.266	0.65667	161	0.93754	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2705.33	36	chr12	56773955	.	A	T	2705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=842;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.383;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1375	18	0	1	0
chr12	56923964	56923964	G	A	exonic	SDR9C7	.	nonsynonymous SNV	SDR9C7:NM_148897:exon4:c.C811T:p.R271W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.0641725543304	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770439255	3.899e-05	3.899e-05	2.178e-05	5.638e-05	0.0002	3.047e-05	2.783e-05	0.0002	0.0001	0	0	0	0	1.872e-05	0	3.148e-05	0	0.0002	2.63e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0.0006	0	0	0	0	0	0.0004	0.119	0.28026	T	0.189	0.28575	T	0.63	0.40197	P	0.099	0.30579	B	0.007790	0.31194	N	0.222920	0.939534	0.37264	D	2.85	0.82803	M	-2.04	0.85703	D	-1.87	0.43717	N	0.482	0.51672	0.146	0.84989	D	0.501	0.81164	D	10	0.27692813	0.45258	T	0.064173	0.69195	D	0.484	0.77335	0.551	0.66716	0.876282451974	0.87507	0.7293446394995188	0.72879	0.692741254437	0.60680	0.395825028419	0.24488	T	0.071782	0.34293	T	-0.109811	0.34798	T	-0.135833	0.60478	T	0.344744712293792	0.26811	T	0.510949	0.16331	T	0.12820964	0.29981	0.13163596	0.31604	0.12820964	0.29981	0.13163596	0.31603	-6.682	0.51675	T	0.2754275391228092	0.36982	0.241	0.47524	B	.	.	2.974924	0.39663	21.0	0.99595678186825054	0.73866	0.36206	0.25480	N	AEFBI	0.499924	0.53340	N	0.102715870260686	0.46588	2.896985	0.139027405255785	0.46563	2.900322	0.909380769255184	0.26310	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	0.199000	0.17037	1.000000	0.23254	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.998000	0.85391	0.0:0.1495:0.8505:0.0	14.242	0.65508	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2512.33	35	chr12	56923964	.	G	A	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.098;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1278	18	0	1	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.02632	1843.33	126	chr12	57002801	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=748;ExcessHet=0;FS=3.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.917;SOR=0.464	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	57003620	57003620	T	C	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.A1298G:p.N433S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00389466038388	0.0002	0.000199681	4.948e-05	0.0002	0.0002	0.0001	0	1.501e-05	0	0	4.53e-05	7	154602	rs191096404	7.525e-06	7.524e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0.0002	4.497e-06	1.656e-05	0	5.252e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	6.268e-05	4.29e-05	0.0001	0	0	0	0.0002	0	0	1.47e-05	0	0	0.566	0.06262	T	0.897	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.059987	0.22282	N	0.428363	1	0.08975	N	0.265	0.09922	N	3.17	0.07599	T	0.68	0.02228	N	0.108	0.09349	-0.9820	0.34538	T	0.011	0.04134	T	10	0.015002221	0.00315	T	0.003895	0.09148	T	0.094	0.27141	.	.	0.183819452728	0.17975	0.10898769869296082	0.10827	0.100410451016	0.11348	0.319345384836	0.13322	T	0.003456	0.02859	T	-0.59447	0.00158	T	-0.812257	0.01615	T	0.00466936722820106	0.00050	T	0.728227	0.34274	T	0.027366979	0.01919	0.028125983	0.01021	0.027366979	0.01918	0.028125983	0.01021	-2.473	0.05600	T	.	.	0.079	0.07272	B	.	.	0.249319	0.06286	2.744	0.24900164664728128	0.01123	0.18801	0.20408	N	AEFBI	0.073152	0.14623	N	-1.13873422313349	0.05967	0.273478	-1.12736914898678	0.07180	0.3483301	0.99575072272467	0.34306	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.7	-2.99	0.05164	0.635000	0.24318	-1.360000	0.05625	-0.120000	0.14102	0.154000	0.23713	0.000000	0.08366	0.576000	0.30797	0.0:0.5068:0.1498:0.3434	7.512	0.26748	152	0.94023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1548.33	36	chr12	57003620	.	T	C	1548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=739;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.531;SOR=1.042	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	57029508	57029508	A	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon26:c.T2804C:p.I935T,MYO1A:NM_001256041:exon27:c.T2804C:p.I935T	.	0	1509	13	0	0	13	0.00428901	.	.	.	175734	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.283	0.0581229933038	.	.	0.0002	0	0.0003	0	0	0.0002	0	0.0003	0.0002005	31	154602	rs372760228	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0027	0.0023	8.961e-05	0.0004	0.0003	0	0	0.0040	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	8.661e-05	7.253e-05	0.0001	8.879e-05	4.813e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0.0002	0.004	0.65419	D	0.01	0.65728	D	0.908	0.50127	P	0.777	0.57175	P	0.000145	0.49130	D	0.138062	0.960778	0.38199	D	2.605	0.76211	M	0.92	0.44461	T	-3.05	0.62976	D	0.57	0.59308	-0.7106	0.59923	T	0.183	0.53103	T	10	0.6668149	0.70476	D	0.058123	0.67208	D	0.283	0.60100	.	.	0.561790411231	0.55840	0.518030966264188	0.51726	0.342622770911	0.36193	0.491415500641	0.37634	T	0.284756	0.65754	T	-0.280409	0.10625	T	-0.324408	0.42091	T	0.469494581222534	0.31512	T	0.727427	0.34191	T	0.25352505	0.48375	0.24457297	0.49927	0.25352505	0.48375	0.24457297	0.49926	-3.998	0.23774	T	.	.	0.125	0.26263	B	.;.	.;.	4.154940	0.62356	24.4	0.99810520047076734	0.89442	0.96452	0.69209	D	AEFBI	0.769809	0.70495	D	0.472483038929714	0.65490	4.828994	0.420568924088148	0.62847	4.507347	0.999764552193674	0.42728	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	6.762000	0.74744	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	1.0:0.0:0.0:0.0	10.108	0.41721	174	0.93268	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.000000	0.100000	0.000000	0.006098	0.007576	0.02632	1275.33	35	chr12	57029508	.	A	G	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.233;DP=774;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.946;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr12	57030288	57030288	G	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon24:c.C2513T:p.P838L,MYO1A:NM_001256041:exon25:c.C2513T:p.P838L	.	0	1521	1	0	0	1	0.000328623	.	.	.	433747	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.155	0.0777437630313	.	.	0.0002	0	0.0008	0	0	0.0002	0	0	0.0001682	26	154602	rs765830662	7.593e-05	7.593e-05	8.576e-05	6.6e-05	0.0007	6.423e-05	6.004e-05	0.0005	0.0005	5.974e-05	0.0007	0	0.0001	0	0.0002	4.407e-05	0.0003	2.319e-05	4.601e-05	4.597e-05	1.285e-05	8.072e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	9.07e-06	2.416e-05	0	0.0001	0	0	0	0	4.409e-05	0.0005	0	0.212	0.19500	T	0.103	0.38305	T	0.026	0.19406	B	0.004	0.10090	B	0.002586	0.36278	N	0.263944	0.999975	0.54805	D	1.3	0.32576	L	-2.21	0.86963	D	-4.54	0.78472	D	0.159	0.19459	-0.4095	0.71726	T	0.469	0.79530	T	10	0.06882611	0.09789	T	0.077744	0.72842	D	0.155	0.40530	0.363	0.36874	0.822984831872	0.82131	0.335801029263641	0.33493	0.0833804111883	0.09400	0.360196232796	0.19414	T	0.417566	0.77018	T	-0.305173	0.08180	T	-0.322103	0.42343	T	0.0426469313967766	0.04172	T	0.60284	0.22604	T	0.07042626	0.15511	0.11576528	0.27946	0.07042626	0.15511	0.11576528	0.27945	-6.117	0.47248	T	.	.	0.075	0.05711	B	.;.	.;.	2.447148	0.31507	18.76	0.86151519901846496	0.16347	0.71733	0.35141	D	AEFDBI	0.122793	0.23810	N	-0.490626338018724	0.22388	1.195054	-0.388291301462599	0.25345	1.393247	0.685433099641052	0.22527	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.94	3.12	0.34986	2.537000	0.45360	2.555000	0.33284	-0.130000	0.13190	0.992000	0.37556	0.998000	0.33993	0.315000	0.24854	0.1934:0.0:0.8066:0.0	7.947	0.29157	174	0.93268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2075.33	35	chr12	57030288	.	G	A	2075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=860;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.691;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr12	57193256	57193256	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon46:c.G7636A:p.G2546S	.	0	1508	13	1	0	15	0.00494886	.	.	.	713663	not_provided|LRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.664	0.0682201535046	0.0022	0.00219649	0.0030	0.0002	0.0010	0.0010	0.0062	0.0034	0.0011	0.0048	0.0029948	463	154602	rs113379328	0.0034	0.0034	0.0033	0.0034	0.0050	0.0033	0.0033	0.0046	0.0045	0.0002	0.0020	7.652e-05	0.0008	0.0056	0.0036	0.0035	0.0030	0.0050	0.0031	0.0031	0.0029	0.0033	0.0058	0.0029	0.0028	0.0041	0.0039	0.0004	0	0.0018	0	0.0021	0.0073	0	0.0044	0.0033	0.0058	0.031	0.45039	D	0.045	0.49390	D	0.742	0.43019	P	0.227	0.38084	B	0.003090	0.35449	N	0.176749	0.996487	0.43231	D	2.265	0.64440	M	-4.12	0.96716	D	-2.9	0.60827	D	0.545	0.57177	0.877	0.95367	D	0.848	0.94943	D	10	0.01645419	0.00347	T	0.06822	0.70390	D	0.664	0.87479	.	.	0.758839333704	0.75664	0.7151362645237248	0.71456	.	.	0.613776445389	0.54849	T	0.618095	0.87990	D	-0.111326	0.34548	T	0.0689534	0.74840	D	0.0482458490631428	0.05187	T	0.915808	0.69967	D	0.1983924	0.41740	0.18786196	0.42043	0.1983924	0.41740	0.18786196	0.42043	-7.79	0.59630	D	.	.	0.109	0.20972	B	.	.	3.385795	0.46858	22.4	0.9787938907840843	0.36587	0.98611	0.84680	D	AEFBI	0.951369	0.96587	D	0.277600705627092	0.55016	3.665936	0.234465759488266	0.51771	3.356734	0.999810283852482	0.43459	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.57	4.57	0.55860	8.129000	0.89477	8.734000	0.78191	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.186000	0.21481	0.0:0.0:1.0:0.0	16.289	0.82564	345	0.85689	Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.015152	0.006793	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2050.33	34	chr12	57193256	.	G	A	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=794;ExcessHet=0;FS=1.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.85;SOR=0.638	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1478	18	0	1	0
chr12	57254967	57254967	C	-	exonic	R3HDM2	.	frameshift deletion	R3HDM2:NM_001351217:exon22:c.2683delG:p.D895Tfs*41,R3HDM2:NM_001351213:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351214:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351215:exon23:c.2785delG:p.D929Tfs*41,R3HDM2:NM_001351216:exon23:c.2773delG:p.D925Tfs*41,R3HDM2:NM_001351218:exon23:c.2683delG:p.D895Tfs*41,R3HDM2:NM_001330122:exon24:c.2839delG:p.D947Tfs*41,R3HDM2:NM_001330123:exon24:c.2707delG:p.D903Tfs*41,R3HDM2:NM_001351208:exon24:c.2881delG:p.D961Tfs*41,R3HDM2:NM_001351209:exon24:c.2833delG:p.D945Tfs*41,R3HDM2:NM_001351212:exon24:c.2785delG:p.D929Tfs*41,R3HDM2:NM_014925:exon24:c.2737delG:p.D913Tfs*41,R3HDM2:NM_001330121:exon25:c.2839delG:p.D947Tfs*41,R3HDM2:NM_001351205:exon25:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351206:exon25:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351211:exon25:c.2803delG:p.D935Tfs*41,R3HDM2:NM_001351204:exon26:c.2935delG:p.D979Tfs*41,R3HDM2:NM_001351207:exon27:c.2905delG:p.D969Tfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	.	6.843e-07	1.642e-05	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	6.595e-06	6.574e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1400.29	34	chr12	57254966	.	TC	T	1400.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=742;ExcessHet=0;FS=4.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.56;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2261.33	35	chr12	57272472	.	G	A	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.251;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1463	18	0	1	0
chr12	57455762	57455762	C	G	exonic	INHBE	.	nonsynonymous SNV	INHBE:NM_031479:exon1:c.C226G:p.L76V	.	.	.	.	.	.	.	.	.	.	.	2687337	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.0556803463396	.	0.000199681	0.0001	0	8.754e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs567902594	5.131e-05	5.199e-05	3.131e-05	7.151e-05	0.0008	4.192e-05	3.823e-05	0.0006	0.0006	0	0	0	0	0	0	5.396e-06	6.624e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.023	0.91255	D	0.013	0.92824	D	0.952	0.54136	P	0.833	0.59784	P	0.000001	0.84330	D	0.000000	0.998352	0.44809	D	3.055	0.86842	M	-1.59	0.82076	D	-0.45	0.41046	N	0.215	0.24010	0.268	0.87031	D	0.624	0.86784	D	10	0.105045885	0.19396	T	0.05568	0.66325	D	0.464	0.76023	0.462	0.53079	0.950479172724	0.94996	0.360183857631961	0.35932	0.282545280783	0.30708	0.402290225029	0.25387	T	0.499825	0.82068	T	-0.186622	0.22754	T	-0.12263	0.61586	T	0.220072201550747	0.21468	T	0.59824	0.32946	T	0.5418349	0.69499	0.50855535	0.71598	0.5418349	0.69500	0.50855535	0.71599	-7.119	0.54897	T	.	.	0.126	0.29200	B	.;.	.;.	3.411775	0.47334	22.4	0.9978200639625141	0.86867	0.58800	0.30740	D	AEFGBCI	0.498743	0.53272	N	0.476850431159213	0.65742	4.860756	0.398047940375729	0.61443	4.344613	0.999999806040919	0.74766	0.627647	0.40530	0	0.541556	0.11502	0	0.672317	0.60874	0	0.530356	0.10902	0	.	.	4.66	3.77	0.42499	0.926000	0.28405	2.694000	0.34110	0.599000	0.40250	0.048000	0.21332	1.000000	0.68203	0.997000	0.79791	0.0:0.8925:0.0:0.1075	8.069	0.29841	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1188.33	34	chr12	57455762	.	C	G	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=750;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.747;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1187	18	0	1	0
chr12	57471154	57471154	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G2030T:p.R677L,GLI1:NM_001167609:exon11:c.G2291T:p.R764L,GLI1:NM_005269:exon12:c.G2414T:p.R805L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00924339289839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.341	0.17964	T	0.931	0.51899	P	0.248	0.38946	B	0.001870	0.37789	N	0.000000	0.652337	0.30522	N	0.55	0.14455	N	2.59	0.14531	T	-1.09	0.28290	N	0.486	0.63459	-1.0677	0.09926	T	0.019	0.08079	T	10	0.21450686	0.37974	T	0.009243	0.24272	T	0.092	0.26621	0.463	0.53242	0.546044812627	0.54260	0.28271560558137826	0.28184	0.496001013045	0.48122	0.427303493023	0.28840	T	0.349519	0.71736	T	-0.0823169	0.39337	T	-0.356019	0.38513	T	0.794777810573578	0.46003	D	0.850615	0.53448	D	0.14253344	0.32797	0.10637085	0.25589	0.14253344	0.32796	0.10637085	0.25588	-2.76	0.08730	T	.	.	0.187	0.48071	B	.;.;.;.	.;.;.;.	2.961672	0.39448	21.0	0.99654060295104308	0.77505	0.77796	0.38294	D	AEFDBCI	0.522881	0.54671	D	0.0661935267682316	0.44892	2.754992	0.133591709209223	0.46276	2.876	0.999999920952643	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.62	3.72	0.41857	1.654000	0.36950	0.309000	0.17063	0.618000	0.50648	0.364000	0.25875	0.849000	0.27373	0.998000	0.85391	0.097:0.0:0.903:0.0	10.533	0.44174	308	0.87611	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	43	chr12	57471154	.	G	T	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.302;SOR=0.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1331	18	0	1	0
chr12	57471942	57471942	C	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.C2818T:p.R940W,GLI1:NM_001167609:exon11:c.C3079T:p.R1027W,GLI1:NM_005269:exon12:c.C3202T:p.R1068W	.	411	1101	10	0	0	10	0.0045208	.	.	.	769242	not_provided|GLI1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0172123518259	0.0002	0.000399361	0.0006	0.0003	0.0003	0.0001	0	0.0003	0.0011	0.0034	0.0005692	88	154602	rs149870317	0.0004	0.0004	0.0003	0.0005	0.0036	0.0004	0.0004	0.0033	0.0031	2.991e-05	0.0006	0	2.523e-05	0	0.0035	0.0002	0.0005	0.0036	0.0005	0.0005	0.0003	0.0007	0.0037	0.0004	0.0004	0.0024	0.0020	7.224e-05	0	0.0027	0	0	0	0	0.0002	0.0005	0.0037	0.003	0.68238	D	0.028	0.57587	D	0.978	0.58756	D	0.226	0.38054	B	0.540070	0.11545	N	0.760941	1	0.08975	N	0	0.06538	N	2.77	0.12575	T	-2.8	0.59226	D	0.19	0.20793	-0.9973	0.30673	T	0.017	0.07092	T	10	0.0041161478	0.00081	T	0.017212	0.38815	T	0.054	0.15330	.	.	0.387689773709	0.38380	0.31311579762671643	0.31224	0.25874892372	0.28431	0.308261394501	0.11645	T	0.645119	0.89163	D	-0.541262	0.00329	T	-0.553313	0.17009	T	0.0319883668361223	0.02305	T	0.551745	0.19033	T	0.118386954	0.27895	0.09547918	0.22648	0.11562303	0.27281	0.072004385	0.15482	-4.502	0.30915	T	.	.	0.135	0.29339	B	.;.;.;.	.;.;.;.	2.856564	0.37726	20.6	0.97500191716296747	0.34293	0.32856	0.24687	N	AEFBI	0.611927	0.60019	D	-0.59061138891684	0.19228	1.004733	-0.671739742570293	0.17668	0.9405331	0.990063324833088	0.32026	0.634777	0.41761	0	0.150725	0.03546	3	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.22	0.255	0.14819	1.151000	0.31263	2.454000	0.32825	-0.108000	0.15293	0.001000	0.13787	1.000000	0.68203	0.940000	0.48062	0.3676:0.1606:0.4718:0.0	4.368	0.10670	310	0.87484	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	6203.81	80	chr12	57471942	.	C	T	6203.81	.	AC=2;AF=0.053;AN=38;DP=1462;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.86;SOR=0.786	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	1	0	0
chr12	57476957	57476957	G	T	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon4:c.C325A:p.L109I,ARHGAP9:NM_001319852:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367422:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367424:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367426:exon4:c.C325A:p.L109I,ARHGAP9:NM_001080157:exon5:c.C877A:p.L293I,ARHGAP9:NM_032496:exon6:c.C877A:p.L293I,ARHGAP9:NM_001319850:exon9:c.C877A:p.L293I	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	7.7e-05	0.00599042	0.0026	9.697e-05	0.0003	0.0245	0.0086	0.0004	0.0023	0.0005	0.0023544	364	154602	rs149553969	0.0010	0.0010	0.0010	0.0009	0.0168	0.0009	0.0009	0.0157	0.0153	0.0001	0.0002	0	0.0168	0.0067	0	0.0001	0.0033	0.0005	0.0017	0.0017	0.0014	0.0021	0.0249	0.0015	0.0015	0.0214	0.0201	0.0003	0	0.0005	0	0.0249	0.0089	0	0.0002	0.0019	0.0004	0.218	0.27310	T	0.403	0.16280	T	0.124	0.26825	B	0.063	0.27082	B	0.105852	0.02591	N	1.955520	0.999999	0.08975	N	1.245	0.31408	L	3.18	0.43279	T	-0.47	0.17417	N	0.202	0.25622	-1.0426	0.16532	T	0.039	0.16978	T	10	0.003387332	0.00059	T	.	.	.	0.056	0.15993	.	.	0.384419519794	0.38055	0.09363307789257894	0.09295	0.059884287588	0.06659	0.310973823071	0.12055	T	0.008776	0.13986	T	-0.568737	0.00225	T	-0.570131	0.15438	T	0.00487950187067834	0.00052	T	0.610839	0.34527	T	.	.	.	.	.	.	.	.	-5.794	0.44618	T	.	.	0.075	0.07365	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.174959	0.15650	12.00	0.71201995381238015	0.09549	0.57662	0.30436	D	AEFDGBCI	0.268693	0.38513	N	-0.731747303158996	0.15133	0.7600287	-0.685546229133014	0.17323	0.9205509	0.999997270087265	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	4.37	2.53	0.29594	1.487000	0.35149	0.790000	0.21560	-0.106000	0.15538	0.985000	0.35982	0.253000	0.23932	0.000000	0.00833	0.2032:0.0:0.7968:0.0	7.445	0.26376	323	0.86843	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1288.33	34	chr12	57476957	.	G	T	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.37;DP=826;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.328;SOR=0.819	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr12	57516550	57516551	CT	-	exonic	MARS1	.	frameshift deletion	MARS1:NM_004990:exon21:c.2672_2673del:p.P891Rfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	859.29	37	chr12	57516549	.	CCT	C	859.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=667;ExcessHet=0;FS=7.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=1.22;SOR=0.164	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1280	18	0	1	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	755.33	34	chr12	57526581	.	C	G	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.689;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-1.748;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1102	18	0	1	0
chr12	57532266	57532266	G	A	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon12:c.C980T:p.T327I,DCTN2:NM_001261413:exon12:c.C974T:p.T325I,DCTN2:NM_001348065:exon12:c.C1109T:p.T370I,DCTN2:NM_001348068:exon13:c.C713T:p.T238I,DCTN2:NM_001348066:exon14:c.C905T:p.T302I,DCTN2:NM_001348067:exon14:c.C713T:p.T238I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00334685997025	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941848876	1.417e-06	2.052e-06	1.401e-06	1.434e-06	1.843e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.843e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.568	0.58626	T	0.675	0.69154	T	0.991	0.64070	D	0.898	0.63708	P	0.000011	0.62929	D	0.111757	0.999987	0.54805	D	0.49	0.13296	N	.	.	.	-0.5	0.26422	N	0.453	0.49692	-0.9115	0.46670	T	0.165	0.50275	T	9	0.42922854	0.57379	T	0.003347	0.07482	T	0.176	0.44373	0.493	0.58048	0.325139982731	0.32122	0.26569115045507896	0.26482	0.515258437671	0.49436	0.506906151772	0.39789	T	0.090236	0.38542	T	0.038715	0.56876	T	-0.182165	0.56323	T	0.815667748451233	0.47453	D	0.846715	0.53799	T	0.15591918	0.35214	0.13881476	0.33140	0.15591918	0.35213	0.13881476	0.33140	-4.349	0.28858	T	.	.	0.154	0.38959	B	.;.;.;.	.;.;.;.	4.783989	0.77568	26.7	0.99769650846449165	0.85750	0.96138	0.67706	D	AEFDBCI	0.844699	0.76165	D	0.467475128512723	0.65200	4.792863	0.546001955580347	0.71119	5.606582	0.999999999999992	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.1	5.1	0.68917	7.057000	0.76374	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.820	0.88559	413	0.81939	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	837.33	33	chr12	57532266	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.323;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-1.626;SOR=0.617	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1346	18	0	1	0
chr12	57718278	57718278	G	A	exonic	OS9	.	nonsynonymous SNV	OS9:NM_001261421:exon10:c.G1171A:p.E391K,OS9:NM_001261422:exon10:c.G1111A:p.E371K,OS9:NM_001261423:exon10:c.G1090A:p.E364K,OS9:NM_001017956:exon11:c.G1267A:p.E423K,OS9:NM_001017957:exon11:c.G1267A:p.E423K,OS9:NM_001017958:exon11:c.G1267A:p.E423K,OS9:NM_001261420:exon11:c.G1270A:p.E424K,OS9:NM_006812:exon11:c.G1267A:p.E423K	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00646200128183	.	0.000399361	3.299e-05	0	0.0003	0	0	1.5e-05	0	0	3.88e-05	6	154602	rs201247279	1.232e-05	1.232e-05	1.363e-05	1.101e-05	0.0002	7.7e-06	6.36e-06	5.804e-05	3.952e-05	0	0.0001	0	0	0	0.0002	5.402e-06	8.284e-05	0	3.284e-05	3.282e-05	2.571e-05	4.029e-05	0.0003	1.26e-05	7.98e-06	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	1.471e-05	0	0	0.017	0.61437	D	0.19	0.58613	T	0.856	0.70673	P	0.242	0.61580	B	0.002055	0.37364	N	0.263520	0.961084	0.41067	D	1.905	0.50856	L	1.92	0.32722	T	-0.91	0.26843	N	0.376	0.52918	-1.0975	0.04407	T	0.082	0.32266	T	10	0.04137501	0.02788	T	0.006462	0.17014	T	0.085	0.24743	.	.	0.744428227519	0.74213	0.18659231152679928	0.18577	0.405105065229	0.41401	0.462513446808	0.33656	T	0.236626	0.63671	T	-0.2609	0.12795	T	-0.343242	0.39978	T	0.169248209615462	0.18529	T	0.963304	0.86607	D	0.08077918	0.18528	0.09477678	0.22447	0.08077918	0.18528	0.09477678	0.22447	-8.662	0.66329	D	.	.	0.102	0.25850	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.140170	0.62018	24.4	0.99914337139150422	0.98309	0.90707	0.52109	D	AEFBCI	0.738896	0.68362	D	0.225727899435	0.52447	3.418948	0.301833066642365	0.55647	3.727603	0.892058194450824	0.25874	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.710000	0.54589	9.114000	0.78816	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.593000	0.31214	0.0831:0.0:0.9169:0.0	11.354	0.48846	132	0.94697	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1831.33	35	chr12	57718278	.	G	A	1831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.244;DP=770;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.367;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr12	57758845	57758845	G	A	exonic	MARCHF9	.	nonsynonymous SNV	MARCHF9:NM_138396:exon4:c.G989A:p.R330H	.	432	1089	1	0	0	1	0.000458926	.	.	.	4164406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.00641770400036	0.0002	0.000199681	8.002e-05	0	0	0.0002	0	8.085e-05	0	0.0001	7.12e-05	11	154602	rs146323526	4.872e-05	5.13e-05	4.775e-05	4.971e-05	9.296e-05	3.939e-05	3.616e-05	4.588e-05	3.499e-05	2.993e-05	0	0	7.581e-05	0	0	4.958e-05	6.644e-05	9.296e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0.0002	9.42e-05	0	0	0	0	0.065	0.36310	T	0.184	0.29056	T	0.312	0.42110	B	0.058	0.48013	B	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.735	0.44892	L	2.17	0.36146	T	-2.52	0.57599	D	0.088	0.18512	-0.8969	0.48302	T	0.163	0.49996	T	10	0.10087693	0.18399	T	0.006418	0.16899	T	0.175	0.44197	.	.	0.516827169674	0.51324	0.5218074659002333	0.52103	0.276623807186	0.30133	0.510422348976	0.40281	T	0.041017	0.25718	T	-0.332975	0.05890	T	-0.423923	0.30625	T	0.168200211121336	0.18458	T	0.818818	0.49530	T	0.33301675	0.55716	0.1664859	0.38459	0.33301675	0.55716	0.1664859	0.38458	-4.405	0.29625	T	.	.	0.097	0.16929	B	.;.	.;.	4.089667	0.60902	24.3	0.99834859804728115	0.91628	0.83814	0.42909	D	AEFDBCI	0.427452	0.49139	N	0.334978895981762	0.57951	3.964814	0.411686825711008	0.62291	4.442184	0.999998768910133	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.579976	0.35079	0	.	.	5.56	5.56	0.83678	3.305000	0.51580	11.929000	0.99898	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.440	0.90609	181	0.92953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	770.33	33	chr12	57758845	.	G	A	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=740;ExcessHet=0;FS=1.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.683;SOR=0.957	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.05263	4197.83	34	chr12	57765390	.	C	G	4197.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.13;DP=945;ExcessHet=0.119;FS=1.321;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.36;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	17	0	2	0
chr12	57780585	57780585	G	A	exonic	EEF1AKMT3	.	nonsynonymous SNV	EEF1AKMT3:NM_015433:exon3:c.G620A:p.R207Q	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0267885680577	0.0022	0.000798722	0.0019	0.0003	0.0006	0	0.0003	0.0029	0.0033	0.0013	0.0020763	321	154602	rs141172155	0.0028	0.0028	0.0029	0.0027	0.0034	0.0028	0.0027	0.0033	0.0033	0.0005	0.0014	0	0	0.0006	0.0019	0.0034	0.0020	0.0014	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0016	0.0028	0.0026	0.0006	0.0011	0.0020	0.0003	0	0.0008	0	0.0031	0.0024	0.0012	0.019	0.50132	D	0.0	0.92824	D	0.996	0.68779	D	0.616	0.51268	P	0.000659	0.42656	D	0.141878	0.787546	0.81001	D	.	.	.	0.93	0.44065	T	-3.16	0.64246	D	0.477	0.51226	-1.0562	0.12724	T	0.104	0.38094	T	9	0.008936435	0.00202	T	0.026789	0.49666	D	0.075	0.21907	.	.	0.507510703362	0.50389	0.613346919652321	0.61266	1.6492091948	0.89517	0.357963263988	0.19089	T	0.002344	0.01739	T	-0.471885	0.00827	T	-0.452712	0.27398	T	0.019722140363936	0.00674	T	0.850115	0.53348	D	0.22724581	0.45421	0.11678828	0.28192	0.22724581	0.45421	0.11678828	0.28191	-6.336	0.49007	T	.	.	0.141	0.30894	B	.;.	.;.	4.935152	0.81403	27.5	0.98325429124007158	0.40280	0.85069	0.44172	D	AEFBI	0.260657	0.37876	N	0.275913396502426	0.54931	3.657642	0.326876316975909	0.57124	3.877185	0.999999135195521	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.2	5.2	0.71720	3.100000	0.49966	9.938000	0.82634	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.613000	0.31716	0.0:0.0:1.0:0.0	17.497	0.87614	189	0.92630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1265.33	34	chr12	57780585	.	G	A	1265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=779;ExcessHet=0;FS=0.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.037;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1170	18	0	1	0
chr12	57810526	57810526	C	T	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G584A:p.R195Q	.	.	.	.	.	.	.	.	.	.	.	2355739	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0158482188225	0.0002	0.000199681	0.0003	9.619e-05	0.0008	0.0002	0	0.0003	0	0.0001	0.0003234	50	154602	rs201086934	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	2.987e-05	0.0003	0	5.038e-05	0	0	0.0004	0.0002	0.0001	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.814e-05	0	6.536e-05	0	0	0	0	0.0004	0	0.0002	0.038	0.42783	D	0.067	0.44302	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.46	0.56281	T	-3.42	0.67241	D	0.806	0.80180	-0.3597	0.73272	T	0.353	0.71681	T	10	0.65567154	0.69859	D	0.015848	0.36807	T	0.276	0.59253	.	.	0.713400616682	0.71089	0.6807683482577838	0.68015	0.602877694266	0.55285	0.735034048557	0.72243	T	0.31644	0.68798	T	-0.0985668	0.36662	T	-0.0704933	0.65591	T	0.519702732563019	0.33354	D	0.956004	0.83260	D	0.57453835	0.71309	0.387044	0.63582	0.57453835	0.71310	0.387044	0.63582	-11.589	0.82791	D	0.6943544179859731	0.77251	0.154	0.34026	B	.	.	5.300644	0.88993	29.8	0.99957572104483117	0.99986	0.97594	0.75777	D	AEFGBHCI	0.905070	0.85613	D	0.80499739454903	0.86418	8.87902	0.774377853997102	0.87963	9.406991	0.999999999999963	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.19	5.19	0.71428	7.754000	0.84040	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.621	0.87984	198	0.92335	Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	333.33	35	chr12	57810526	.	C	T	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.818;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	57811021	57811021	C	T	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon4:c.G445A:p.E149K	.	.	.	.	.	.	.	.	0.9516	0.828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0223091500559	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs756883725	4.788e-05	4.857e-05	3.675e-05	5.913e-05	0.0002	3.86e-05	3.54e-05	4.612e-05	4.197e-05	0	0	0	0	0	0.0002	5.755e-05	4.967e-05	2.319e-05	5.257e-05	5.253e-05	5.14e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	6.808e-05	2.85e-05	2.413e-05	0	0	0	0.0004	0	0	7.351e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	0.51	0.55439	T	-3.51	0.72240	D	0.655	0.66529	0.141	0.84897	D	0.471	0.79674	T	10	0.7956155	0.79042	D	0.022309	0.45185	T	0.486	0.77464	0.596	0.72617	0.843020807234	0.84152	0.7512762375044043	0.75074	0.595676403535	0.54834	0.589607715607	0.51438	T	0.464913	0.80027	T	0.195843	0.73504	D	0.212667	0.83802	D	0.98667973279953	0.77334	D	0.973503	0.98387	D	0.74223053	0.80420	0.6388422	0.78906	0.74223053	0.80422	0.6388422	0.78907	-11.247	0.80995	D	0.7651861486709718	0.84666	0.340	0.71261	B	.;.	.;.	5.696652	0.93091	33	0.99899815917028012	0.97199	0.97689	0.76430	D	AEFBCI	0.914607	0.87823	D	0.857927371982042	0.89555	10.01989	0.730374468104555	0.84684	8.361392	0.999999999998595	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	4.996000	0.63655	7.624000	0.62436	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.0:1.0:0.0:0.0	17.988	0.89083	198	0.92335	Gelsolin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1821.33	35	chr12	57811021	.	C	T	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=803;ExcessHet=0;FS=4.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.25;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	18	0	1	0
chr12	57956835	57956835	C	T	exonic	ATP23	.	nonsynonymous SNV	ATP23:NM_001320409:exon5:c.C332T:p.A111V,ATP23:NM_001320408:exon6:c.C530T:p.A177V,ATP23:NM_033276:exon6:c.C686T:p.A229V,ATP23:NM_001320410:exon7:c.C332T:p.A111V	.	440	1069	13	0	0	13	0.0060437	.	.	.	2807160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0237817948028	0.0053	0.00239617	0.0053	0.0011	0.0062	0	0.0008	0.0078	0.0089	0.0014	0.0052781	816	154602	rs117230607	0.0063	0.0063	0.0063	0.0064	0.0109	0.0062	0.0062	0.0088	0.0080	0.0009	0.0071	0.0124	2.523e-05	0.0016	0.0109	0.0071	0.0070	0.0018	0.0051	0.0051	0.0055	0.0047	0.0078	0.0048	0.0047	0.0072	0.0070	0.0012	0	0.0077	0.0124	0	0.0009	0.0136	0.0078	0.0114	0.0006	0.011	0.55530	D	0.046	0.49120	D	0.125	0.26866	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.675	0.78361	M	0.82	0.48142	T	-0.84	0.22944	N	0.404	0.44474	-1.0117	0.26385	T	0.092	0.35119	T	10	0.0061927736	0.00139	T	0.023782	0.46754	T	0.121	0.33580	.	.	0.613939331864	0.61082	0.759185589835302	0.75866	0.870863411609	0.69393	0.524891376495	0.42314	T	0.014812	0.12542	T	-0.346926	0.04923	T	-0.263862	0.48439	T	0.0486253854676455	0.05255	T	.	.	.	0.21897168	0.44417	0.19760513	0.43551	0.21897168	0.44417	0.19760513	0.43550	-4.102	0.25320	T	.	.	0.363	0.57386	A	.	.	4.391800	0.67780	25.1	0.99889966653336681	0.96436	0.98003	0.78791	D	AEFBI	0.612046	0.60027	D	-0.0499452342530211	0.39605	2.338248	0.0894204426622313	0.44013	2.691503	0.995798016004115	0.34330	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.62	4.73	0.59485	5.599000	0.67280	7.441000	0.58873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:0.9311:0.0:0.0688	14.972	0.70890	273	0.89298	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.015152	0.009511	0.002924	0.050000	0.008621	0.006098	0.007576	0.02632	721.33	33	chr12	57956835	.	C	T	721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=711;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.06;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	18	0	1	0
chr12	58876507	58876507	C	T	exonic	LRIG3	.	nonsynonymous SNV	LRIG3:NM_001136051:exon16:c.G2453A:p.S818N,LRIG3:NM_153377:exon16:c.G2633A:p.S878N	.	.	.	.	.	.	.	.	.	.	.	4163747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0278112974372	.	.	0.0001	0	0	0	0	4.51e-05	0	0.0006	9.06e-05	14	154602	rs200816582	8.072e-05	8.072e-05	5.853e-05	0.0001	0.0005	6.868e-05	6.42e-05	0.0004	0.0003	0	4.472e-05	0	0	1.872e-05	0	6.205e-05	4.967e-05	0.0005	3.283e-05	3.281e-05	1.285e-05	5.372e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.031	0.46129	D	0.05	0.48080	T	0.984	0.70673	D	0.84	0.76916	P	0.000483	0.43931	D	0.000000	0.999994	0.58761	D	2.57	0.75187	M	0.07	0.62459	T	-1.23	0.31170	N	0.622	0.63713	-0.2438	0.76526	T	0.445	0.78155	T	9	0.46730658	0.59649	T	0.027811	0.50574	D	0.235	0.53788	0.188	0.09776	0.772306252981	0.77022	0.6039344864518222	0.60324	0.64558191495	0.58000	0.513379335403	0.40695	T	0.258636	0.62981	T	-0.276711	0.11020	T	-0.292522	0.45510	T	0.332606777343663	0.26329	T	0.832517	0.50110	T	0.12006988	0.28260	0.14719625	0.34843	0.12006988	0.28260	0.14719625	0.34842	-4.242	0.28121	T	.	.	0.211	0.43855	B	.;.	.;.	4.583040	0.72416	25.8	0.99729266224389357	0.82619	0.99766	0.99310	D	AEFDGBI	0.908689	0.86431	D	0.79207979484605	0.85606	8.62694	0.794777127377371	0.89428	9.970794	0.999999999999992	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.75	5.75	0.90390	7.322000	0.78368	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.938	0.97146	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1572.33	35	chr12	58876507	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=734;ExcessHet=0;FS=5.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.774;SOR=0.97	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	59775224	59775224	G	T	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.G929T:p.R310L,SLC16A7:NM_001270622:exon5:c.G929T:p.R310L,SLC16A7:NM_001270623:exon5:c.G929T:p.R310L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.146720466741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000036	0.55875	D	0.124508	1	0.81001	D	2.785	0.81254	M	-1.47	0.81067	T	-6.53	0.91741	D	0.925	0.95956	0.631	0.92301	D	0.759	0.91781	D	9	0.898949	0.89253	D	0.14672	0.82881	D	0.833	0.94728	0.704	0.84054	0.975196573608	0.97492	0.8615290949045438	0.86116	0.420991030919	0.42612	0.485399693251	0.36801	T	0.472107	0.80452	T	0.416292	0.90823	D	0.360198	0.90711	D	0.995364665985107	0.87292	D	0.973103	0.90315	D	0.8869511	0.90248	0.80994654	0.88896	0.8869511	0.90249	0.80994654	0.88897	-10.984	0.79571	D	.	.	0.942	0.86433	P	.;.;.;.;.	.;.;.;.;.	5.291548	0.88845	29.8	0.99857036367896801	0.93548	0.99326	0.94534	D	AEFI	0.873590	0.79603	D	0.930961832814971	0.93192	11.87974	0.862177799991345	0.93708	12.22417	0.999999999406563	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.912000	0.99606	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.0:0.0:1.0:0.0	20.343	0.98774	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2595.33	35	chr12	59775224	.	G	T	2595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.943;DP=851;ExcessHet=0;FS=4.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.469;SOR=1.008	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	0	1	0
chr12	62525955	62525955	A	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon11:c.A1253G:p.N418S,MON2:NM_001278470:exon11:c.A1253G:p.N418S,MON2:NM_001278471:exon11:c.A1253G:p.N418S,MON2:NM_015026:exon11:c.A1253G:p.N418S,MON2:NM_001278472:exon12:c.A1037G:p.N346S	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00932583130493	0.0011	0.000399361	0.0019	0.0004	0	0	0.0026	0.0024	0.0011	0.0032	0.0018499	286	154602	rs142746051	0.0016	0.0016	0.0015	0.0017	0.0035	0.0015	0.0015	0.0032	0.0031	0.0003	0.0002	0.0002	0	0.0037	0.0009	0.0015	0.0013	0.0035	0.0011	0.0012	0.0010	0.0013	0.0027	0.0010	0.0010	0.0016	0.0015	0.0004	0	0.0001	0	0	0.0016	0.0034	0.0018	0.0009	0.0027	0.716	0.03972	T	1.0	0.01155	T	.	.	.	.	.	.	0.000121	0.49741	D	0.172862	0.85273	0.35250	D	0.46	0.12951	N	0.58	0.54347	T	0.14	0.05405	N	0.144	0.17966	-1.0645	0.10666	T	0.049	0.20947	T	9	0.0057468116	0.00128	T	0.009326	0.24483	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.10776476197744674	0.10705	.	.	0.454509824514	0.32561	T	0.008712	0.07977	T	-0.615983	0.00116	T	-0.660329	0.08244	T	0.00144395477587966	0.00014	T	0.80172	0.44782	T	0.025496146	0.01495	0.038191233	0.03634	0.025496146	0.01495	0.038191233	0.03634	-2.186	0.03997	T	.	.	0.055	0.00604	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465376	0.18885	13.98	0.18396248832322951	0.00577	0.87593	0.47183	D	AEFGBI	0.196405	0.32338	N	-0.835011067710937	0.12423	0.605398	-0.650981405829786	0.18192	0.9707341	0.911721769815367	0.26374	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	1.49	0.21966	1.487000	0.35149	2.554000	0.33279	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.5395:0.3907:0.0697:0.0	7.990	0.29398	758	0.50837	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	490.33	34	chr12	62525955	.	A	G	490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.483;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	18	0	1	0
chr12	63560574	63560574	C	T	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon22:c.G2215A:p.A739T	Spermatogenic failure 9, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2359304	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0159168274509	.	.	0.0002	0	8.682e-05	0	0	7.51e-05	0	0.0009	0.0001358	21	154602	rs779226004	0.0001	0.0001	6.943e-05	0.0001	0.0009	9.267e-05	8.731e-05	0.0008	0.0007	0	2.236e-05	0.0001	0	0	0	5.846e-05	0.0001	0.0009	7.89e-05	7.88e-05	5.14e-05	0.0001	0.0010	4.499e-05	3.514e-05	0.0004	0.0003	0	0	6.55e-05	0	0	0	0	8.821e-05	0	0.0010	0.037	0.43085	D	0.127	0.35082	T	0.077	0.24313	B	0.046	0.24676	B	0.013345	0.28869	N	0.384866	1	0.08975	N	2.095	0.58118	M	0.55	0.54728	T	-0.64	0.18670	N	0.037	0.01135	-1.0593	0.11931	T	0.073	0.29675	T	9	0.025743455	0.00760	T	0.015917	0.36914	T	0.022	0.04323	0.484	0.56621	0.149567049428	0.14543	0.7377296571318136	0.73717	0.175141826763	0.19720	0.368524849415	0.20620	T	0.001012	0.00548	T	-0.535398	0.00357	T	-0.592279	0.13469	T	0.0261647096391396	0.01428	T	0.582642	0.21138	T	0.03339127	0.03550	0.049045563	0.07414	0.03177287	0.03079	0.047050986	0.06693	-3.548	0.17110	T	0.13702446044002212	0.15038	0.083	0.09143	B	.	.	1.078283	0.14613	11.17	0.88826544759295412	0.18287	0.02355	0.06716	N	AEFI	0.087217	0.17685	N	-1.13326203226623	0.06060	0.2779471	-1.21308421442733	0.05699	0.2722841	1.91328333085314E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	3.0	-1.15	0.09211	-0.040000	0.12056	-0.944000	0.06837	0.288000	0.18739	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.229:0.3602:0.4107:0.0	5.214	0.14653	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	44	chr12	63560574	.	C	T	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=799;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.457;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr12	63597906	63597906	C	A	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon14:c.G1364T:p.R455L	Spermatogenic failure 9, Autosomal recessive	242	1266	11	3	0	17	0.00666928	.	.	.	3547151	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00747258239354	0.0011	0.00199681	0.0020	0.0005	0.0016	0.0001	0	0.0015	0.0011	0.0071	0.0017205	266	154602	rs147328742	0.0018	0.0018	0.0016	0.0019	0.0077	0.0017	0.0017	0.0072	0.0070	0.0004	0.0022	0.0080	0	9.435e-05	0.0021	0.0013	0.0025	0.0077	0.0016	0.0016	0.0016	0.0016	0.0071	0.0015	0.0014	0.0052	0.0045	0.0004	0	0.0045	0.0063	0	9.535e-05	0	0.0015	0.0028	0.0071	0.009	0.57480	D	0.008	0.67890	D	0.013	0.16609	B	0.023	0.19966	B	0.000149	0.49130	N	0.175210	0.983463	0.24882	N	.	.	.	0.5	0.55608	T	-2.42	0.53096	N	0.378	0.41952	-1.1102	0.03053	T	0.045	0.19275	T	9	0.0106499195	0.00236	T	0.007473	0.19819	T	0.142	0.37995	.	.	0.430126000877	0.42631	0.7062629122383266	0.70568	0.222820380777	0.24817	0.415307432413	0.27191	T	0.064252	0.38424	T	-0.397893	0.02390	T	-0.340177	0.40323	T	0.0281101279353601	0.01705	T	0.407159	0.14976	T	0.11490747	0.27122	0.14272255	0.33945	0.13063732	0.30475	0.16589046	0.38353	-7.903	0.60407	D	0.13448407134632476	0.14532	0.164	0.40424	B	.;.	.;.	2.351172	0.30146	18.35	0.97961676970337497	0.37180	0.46214	0.27710	N	AEFI	0.296110	0.40605	N	-0.571342147634044	0.19820	1.040277	-0.477704734001758	0.22769	1.238353	1.09642434955734E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.14	0.055	0.13628	1.794000	0.38408	0.112000	0.14796	0.304000	0.19002	1.000000	0.71638	0.011000	0.20116	0.504000	0.29107	0.2285:0.5111:0.0:0.2605	2.676	0.04766	849	0.35778	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006773	0.000000	0.005495	0.004464	0.000000	0.017857	0.003906	0.012821	0.02632	461.33	45	chr12	63597906	.	C	A	461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.16;MQRankSum=1.49;QD=10.25;ReadPosRankSum=-0.023;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	18	0	1	0
chr12	64688433	64688433	G	A	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon3:c.G437A:p.R146H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0125424570887	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368804088	1.437e-05	1.437e-05	8.171e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	6.511e-05	4.449e-05	0.0001	6.708e-05	0	0.0002	0	0	5.398e-06	3.312e-05	0	2.629e-05	2.627e-05	1.285e-05	4.037e-05	7.24e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.25	0.23707	T	0.835	0.46254	P	0.293	0.40773	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.095	0.58118	M	1.57	0.29342	T	-4.26	0.76174	D	0.667	0.67564	-1.0734	0.08681	T	0.084	0.32843	T	9	0.2898627	0.46567	T	0.012542	0.31203	T	0.172	0.43662	.	.	0.463672176093	0.45992	0.536209984919891	0.53545	0.183075341833	0.20593	0.622682213783	0.56108	T	0.078754	0.35968	T	-0.237311	0.15694	T	-0.314229	0.43204	T	0.455381602048874	0.30995	T	0.907809	0.69822	D	0.37837288	0.59199	0.30610046	0.56636	0.37837288	0.59199	0.30610046	0.56635	-8.183	0.62310	D	.	.	0.119	0.24396	B	.;.;.	.;.;.	5.004971	0.83070	27.9	0.99799487517779073	0.88461	0.95657	0.65605	D	AEFDBIJ	0.638407	0.61684	D	0.430589744134268	0.63112	4.538742	0.503294708510021	0.68212	5.188931	0.999999989014326	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.851000	0.69211	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.226	0.93804	656	0.62345	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1002.33	33	chr12	64688433	.	G	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=696;ExcessHet=0;FS=4.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.973;SOR=1.25	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	18	0	1	0
chr12	66137978	66137978	T	G	exonic	TMBIM4	.	nonsynonymous SNV	TMBIM4:NM_001282610:exon7:c.A606C:p.E202D,TMBIM4:NM_016056:exon7:c.A699C:p.E233D,TMBIM4:NM_001282606:exon8:c.A840C:p.E280D	.	436	1064	17	5	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0013	0.00299521	0.0020	0.0002	0.0032	0	0	0.0013	0.0011	0.0066	0.001934	299	154602	rs147884415	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0067	0.0065	0.0002	0.0026	0.0023	2.52e-05	0	0.0066	0.0014	0.0019	0.0071	0.0014	0.0014	0.0014	0.0013	0.0071	0.0012	0.0012	0.0052	0.0045	0.0002	0.0351	0.0011	0.0017	0	9.429e-05	0	0.0016	0.0024	0.0071	0.548	0.17821	T	0.436	0.14588	T	0.0	0.07471	B	0.003	0.08700	B	0.000061	0.52346	N	0.162296	0.871257	0.81001	D	0.75	0.19020	N	1.52	0.31205	T	0.0	0.12472	N	0.051	0.06190	-1.0861	0.06209	T	0.062	0.25923	T	9	0.0068548024	0.00156	T	.	.	.	0.028	0.06331	0.442	0.49811	0.535959997616	0.53246	0.35909729547073704	0.35823	0.224836973963	0.25018	0.418829500675	0.27676	T	0.004694	0.04103	T	-0.532562	0.00371	T	-0.533899	0.18899	T	0.0101599433400537	0.00137	T	0.708429	0.33029	T	0.057431	0.11427	0.09329757	0.22030	0.057431	0.11427	0.09329757	0.22030	-1.422	0.01612	T	.	.	0.215	0.45593	B	.;.;.	.;.;.	1.599486	0.20451	14.75	0.98820339463767581	0.46769	0.84154	0.43238	D	AEFDBI	0.212133	0.33785	N	-0.375116914381724	0.26359	1.437949	-0.216751398241781	0.30935	1.74615	0.978222220914938	0.29900	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.87	2.18	0.26813	1.140000	0.31128	1.222000	0.24983	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2091:0.1231:0.6679	6.366	0.20658	921	0.19240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.000000	0.004076	0.002924	0.000000	0.000000	0.003067	0.007576	0.02632	665.33	35	chr12	66137978	.	T	G	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.795;DP=674;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.462;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr12	66244572	66244572	G	A	exonic	IRAK3	.	nonsynonymous SNV	IRAK3:NM_001142523:exon8:c.G791A:p.S264N,IRAK3:NM_007199:exon9:c.G974A:p.S325N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0177233720411	.	.	3.295e-05	0	8.637e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs754495502	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0019	2.087e-05	1.878e-05	0.0011	0.0008	5.975e-05	0	0	0	0	0.0019	1.889e-05	6.624e-05	3.478e-05	1.97e-05	1.969e-05	0	4.03e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.005	0.63226	D	0.069	0.43913	T	0.437	0.35811	B	0.093	0.30104	B	0.049791	0.23129	N	0.477830	1	0.08975	N	1.48	0.37141	L	-0.14	0.65006	T	-2.2	0.49519	N	0.16	0.23884	-1.0206	0.23519	T	0.121	0.42187	T	9	0.10956067	0.20442	T	0.017723	0.39529	T	0.066	0.19193	0.381	0.39807	0.787280612622	0.78530	0.2615107050651214	0.26064	0.0227418883383	0.02294	0.335206478834	0.15719	T	0.136409	0.46876	T	-0.302229	0.08451	T	-0.541457	0.18154	T	0.0460374650471422	0.04790	T	0.561544	0.19673	T	0.17914955	0.38971	0.1126124	0.27173	0.17914955	0.38971	0.1126124	0.27172	-5.076	0.37653	T	.	.	0.061	0.04477	B	.;.	.;.	0.293379	0.06695	3.201	0.90731464583626453	0.19981	0.04988	0.10760	N	AEFDGBI	0.040972	0.06167	N	-0.898960386173715	0.10867	0.5214604	-0.983526788227398	0.10154	0.5096732	0.988598685297875	0.31567	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-0.617	0.10999	0.169000	0.16457	0.475000	0.18750	-0.118000	0.14412	0.234000	0.24685	0.018000	0.20648	0.048000	0.15020	0.3144:0.1359:0.4099:0.1398	1.368	0.02073	725	0.54935	Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1318.33	43	chr12	66244572	.	G	A	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=752;ExcessHet=0;FS=1.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.009;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr12	66324129	66324129	C	T	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon10:c.C2444T:p.T815M,HELB:NM_033647:exon10:c.C2444T:p.T815M	.	.	.	.	.	.	.	.	.	.	.	2735304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00694819317574	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs746415381	6.568e-05	6.567e-05	7.216e-05	5.914e-05	0.0003	5.496e-05	5.108e-05	6.148e-05	5.654e-05	0	8.945e-05	0	0	5.619e-05	0.0003	7.465e-05	6.624e-05	0	0.0002	0.0002	8.996e-05	0.0002	0.0007	0.0001	9.71e-05	0.0004	0.0003	2.415e-05	0	0.0007	0	0	0	0	0.0002	0	0	0.047	0.40319	D	0.112	0.37037	T	0.262	0.31549	B	0.039	0.23607	B	0.854525	0.08939	N	0.931909	1	0.08975	N	1.25	0.31749	L	2.72	0.11947	T	-1.09	0.28290	N	0.117	0.10626	-0.9979	0.30507	T	0.030	0.13067	T	9	0.065079	0.08725	T	0.006948	0.18402	T	0.022	0.04323	.	.	0.149567049428	0.14543	0.30155607456442285	0.30068	0.249302974152	0.27503	0.246222183108	0.03380	T	0.004303	0.03709	T	-0.400266	0.02306	T	-0.615759	0.11521	T	0.022297877534221	0.00942	T	.	.	.	0.019073667	0.00433	0.03773334	0.03490	0.019073667	0.00432	0.03773334	0.03490	-4.9	0.35735	T	.	.	0.080	0.07602	B	.	.	0.625166	0.09937	6.694	0.62178097835614565	0.06896	0.04403	0.09989	N	AEFBI	0.036940	0.05002	N	-0.930532648233938	0.10132	0.4827938	-0.980102144854702	0.10232	0.5140496	0.206589646538893	0.18188	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.24	2.37	0.28337	-0.663000	0.05398	-1.056000	0.06467	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5972:0.3161:0.0867	7.635	0.27427	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	34	chr12	66324129	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.186;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	18	0	1	0
chr12	68302649	68302649	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon11:c.C1103T:p.S368F,MDM1:NM_001205028:exon12:c.C1838T:p.S613F,MDM1:NM_001354970:exon12:c.C1823T:p.S608F,MDM1:NM_001368282:exon12:c.C1133T:p.S378F,MDM1:NM_017440:exon12:c.C1943T:p.S648F,MDM1:NM_001354969:exon13:c.C1973T:p.S658F,MDM1:NM_001354972:exon13:c.C1133T:p.S378F,MDM1:NM_001354973:exon13:c.C1133T:p.S378F,MDM1:NM_001354971:exon14:c.C1133T:p.S378F	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0157722164338	0.0003	.	0.0003	0	8.737e-05	0	0	0.0001	0	0.0013	0.0002005	31	154602	rs146977411	0.0001	0.0001	5.855e-05	0.0002	0.0016	9.404e-05	8.886e-05	0.0009	0.0009	0	6.713e-05	0	0	0	0.0016	3.688e-05	0.0001	0.0011	0.0001	0.0001	9e-05	0.0002	0.0010	8.17e-05	6.725e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0001	0.0009	0.0010	0.009	0.58626	D	0.008	0.69154	D	0.94	0.52768	P	0.646	0.52296	P	0.190747	0.16853	N	0.611279	0.984611	0.24785	N	2.3	0.65703	M	2.17	0.19020	T	-2.31	0.72594	N	0.478	0.53445	-1.0346	0.18983	T	0.099	0.36907	T	9	0.05403754	0.05690	T	0.015772	0.36685	T	0.105	0.29889	.	.	0.366085729538	0.36220	0.2512834535264631	0.25042	0.31362189538	0.33653	0.348569601774	0.17711	T	0.387412	0.74833	T	-0.409944	0.01989	T	-0.407185	0.32549	T	0.385708689689636	0.28401	T	0.887811	0.73561	D	0.097871825	0.23077	0.16010335	0.37307	0.097871825	0.23077	0.16010335	0.37306	-4.333	0.31032	T	.	.	0.188	0.49373	B	.;.;.	.;.;.	3.783021	0.54409	23.5	0.99783655569506036	0.87043	0.84300	0.43382	D	AEFBI	0.275452	0.39040	N	0.26804048085253	0.54536	3.618965	0.239925150875668	0.52078	3.385186	0.0243017625577386	0.13569	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	2.87	0.32523	4.165000	0.57984	3.067000	0.36184	0.676000	0.76740	0.999000	0.42656	0.979000	0.30280	0.969000	0.54022	0.0:0.2838:0.7162:0.0	14.852	0.69934	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	747.33	33	chr12	68302649	.	G	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=682;ExcessHet=0;FS=3.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.396;SOR=1.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	18	0	1	0
chr12	68315054	68315054	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G553A:p.D185N,MDM1:NM_001205028:exon9:c.G1288A:p.D430N,MDM1:NM_001354970:exon9:c.G1273A:p.D425N,MDM1:NM_001368282:exon9:c.G583A:p.D195N,MDM1:NM_017440:exon9:c.G1393A:p.D465N,MDM1:NM_001354969:exon10:c.G1423A:p.D475N,MDM1:NM_001354972:exon10:c.G583A:p.D195N,MDM1:NM_001354973:exon10:c.G583A:p.D195N,MDM1:NM_001354971:exon11:c.G583A:p.D195N	.	.	.	.	.	.	.	.	.	.	.	2725896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00151025538646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228408527	7.525e-06	7.524e-06	9.528e-06	5.5e-06	2.987e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	0	0	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.405	0.10311	T	0.329	0.18617	T	0.221	0.30336	B	0.01	0.14941	B	0.646279	0.10554	N	0.844596	1	0.08975	N	0	0.06538	N	2.0	0.21473	T	-0.2	0.10136	N	0.104	0.14622	-0.9869	0.33371	T	0.025	0.10643	T	9	0.05858156	0.06910	T	0.00151	0.02343	T	0.014	0.01968	0.238	0.16912	0.0297737177859	0.01360	0.02961286069196749	0.02910	0.0481602307982	0.05259	0.279046833515	0.07360	T	0.017805	0.14461	T	-0.388783	0.02739	T	-0.780751	0.02431	T	0.0366765771395218	0.03098	T	0.530047	0.17581	T	0.031803608	0.03088	0.024364999	0.00454	0.031803608	0.03087	0.024364999	0.00454	-4.132	0.25877	T	.	.	0.069	0.04316	B	.;.	.;.	0.566699	0.09351	6.133	0.85240960411871092	0.15771	0.03530	0.08719	N	AEFBI	0.036206	0.04786	N	-1.14442591252093	0.05872	0.2688437	-1.27193761571658	0.04814	0.2279789	0.0380616760858381	0.14329	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.753	-0.529	0.11307	0.060000	0.14220	0.066000	0.14196	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7511:0.0:0.2489	5.376	0.15468	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	194.33	42	chr12	68315054	.	C	T	194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.527;DP=1137;ExcessHet=0;FS=93.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.06;SOR=6.665	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr12	68315057	68315057	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G550C:p.D184H,MDM1:NM_001205028:exon9:c.G1285C:p.D429H,MDM1:NM_001354970:exon9:c.G1270C:p.D424H,MDM1:NM_001368282:exon9:c.G580C:p.D194H,MDM1:NM_017440:exon9:c.G1390C:p.D464H,MDM1:NM_001354969:exon10:c.G1420C:p.D474H,MDM1:NM_001354972:exon10:c.G580C:p.D194H,MDM1:NM_001354973:exon10:c.G580C:p.D194H,MDM1:NM_001354971:exon11:c.G580C:p.D194H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00196230859428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.856e-05	0.0003	1.916e-05	1.795e-05	3e-05	1.271e-05	1.089e-05	1.303e-05	1.112e-05	3e-05	0	3.832e-05	0	0	0	1.99e-05	3.326e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47745	D	0.101	0.39040	T	0.138	0.27452	B	0.027	0.21085	B	0.325098	0.04097	N	1.517130	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-1.32	0.33197	N	0.201	0.27910	-1.0150	0.25336	T	0.023	0.09741	T	9	0.071266085	0.10482	T	0.001962	0.03509	T	0.012	0.01476	0.126	0.03173	0.0138822411134	0.00435	0.061463803675946296	0.06086	0.108187199226	0.12199	0.297671884298	0.10055	T	0.036766	0.24227	T	-0.286019	0.10038	T	-0.648623	0.09051	T	0.0697529114174026	0.08617	T	0.270573	0.05606	T	0.052654143	0.09850	0.075408004	0.16598	0.052654143	0.09850	0.075408004	0.16598	-6.062	0.46795	T	.	.	0.091	0.13032	B	.;.	.;.	0.959842	0.13364	9.868	0.29956238085758846	0.01615	0.03517	0.08699	N	AEFBI	0.049707	0.08616	N	-1.74950743609334	0.00681	0.02937809	-1.83612441707929	0.00650	0.02891701	0.978128700104782	0.29889	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-6.78	0.01559	-0.498000	0.06502	-0.543000	0.08571	-1.956000	0.00480	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2332:0.1057:0.6611	9.908	0.40559	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	188.33	42	chr12	68315057	.	C	G	188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=1113;ExcessHet=0;FS=91.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.57;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr12	68315058	68315058	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G549C:p.E183D,MDM1:NM_001205028:exon9:c.G1284C:p.E428D,MDM1:NM_001354970:exon9:c.G1269C:p.E423D,MDM1:NM_001368282:exon9:c.G579C:p.E193D,MDM1:NM_017440:exon9:c.G1389C:p.E463D,MDM1:NM_001354969:exon10:c.G1419C:p.E473D,MDM1:NM_001354972:exon10:c.G579C:p.E193D,MDM1:NM_001354973:exon10:c.G579C:p.E193D,MDM1:NM_001354971:exon11:c.G579C:p.E193D	.	.	.	.	.	.	.	.	.	.	.	3289098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0162907195268	.	.	2.471e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0	1.94e-05	3	154602	rs761653386	4.791e-06	4.105e-05	6.81e-06	2.751e-06	2.988e-05	1.99e-06	1.28e-06	3e-07	1.1e-07	2.988e-05	2.236e-05	0	2.519e-05	0	0	1.8e-06	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.063	0.45110	T	0.787	0.44504	P	0.298	0.40966	B	0.362119	0.13654	N	0.695306	1	0.08975	N	0.695	0.17993	N	1.85	0.24472	T	-1.5	0.36586	N	0.15	0.24260	-1.0381	0.17893	T	0.030	0.12935	T	9	0.07497659	0.11530	T	0.016291	0.37474	T	0.015	0.02232	0.215	0.13498	0.0138822411134	0.00435	0.032169095193184616	0.03164	0.306213775915	0.32924	0.23284393549	0.02185	T	0.044178	0.26736	T	-0.391333	0.02638	T	-0.630771	0.10356	T	0.191752582788467	0.19947	T	0.378562	0.09103	T	0.14788155	0.33787	0.102234356	0.24496	0.14788155	0.33786	0.102234356	0.24495	-3.799	0.21433	T	.	.	0.082	0.10111	B	.;.	.;.	-0.285002	0.02684	0.347	0.962885943470556	0.29305	0.03546	0.08744	N	AEFBI	0.059913	0.11349	N	-0.982395159602214	0.08979	0.4231447	-1.1659861758829	0.06486	0.3123426	0.286705760964225	0.19044	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-4.28	0.03475	-1.253000	0.02987	-1.467000	0.05373	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.322:0.1587:0.5193	6.444	0.21066	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	229.33	42	chr12	68315058	.	C	G	229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.597;DP=937;ExcessHet=0;FS=93.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr12	68315060	68315060	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G547C:p.E183Q,MDM1:NM_001205028:exon9:c.G1282C:p.E428Q,MDM1:NM_001354970:exon9:c.G1267C:p.E423Q,MDM1:NM_001368282:exon9:c.G577C:p.E193Q,MDM1:NM_017440:exon9:c.G1387C:p.E463Q,MDM1:NM_001354969:exon10:c.G1417C:p.E473Q,MDM1:NM_001354972:exon10:c.G577C:p.E193Q,MDM1:NM_001354973:exon10:c.G577C:p.E193Q,MDM1:NM_001354971:exon11:c.G577C:p.E193Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0207637212828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.3e-05	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.161	0.31326	T	0.928	0.51611	P	0.408	0.44733	B	0.362119	0.13654	N	0.695306	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.95	0.25332	N	0.112	0.19861	-1.0585	0.12134	T	0.044	0.18783	T	9	0.07721999	0.12161	T	0.020764	0.43417	T	0.022	0.04323	0.227	0.15257	0.0138822411134	0.00435	0.0658389026380427	0.06522	0.318609977021	0.34082	0.230100348592	0.01975	T	0.024413	0.18453	T	-0.230759	0.16550	T	-0.569246	0.15520	T	0.169440805912018	0.18542	T	0.458254	0.13193	T	0.11869084	0.27959	0.050728	0.08021	0.11869084	0.27959	0.050728	0.08020	-5.997	0.46254	T	.	.	0.101	0.20117	B	.;.	.;.	1.564316	0.20031	14.56	0.95058437844600807	0.26083	0.11680	0.16792	N	AEFBI	0.062126	0.11922	N	-0.607554815234127	0.18717	0.9739345	-0.769743800062424	0.15238	0.8004049	0.0391899243322302	0.14382	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	0.356	0.15310	0.769000	0.26267	0.374000	0.17708	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.1533:0.6017:0.1499:0.095	4.542	0.11460	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	223.33	42	chr12	68315060	.	C	G	223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.241;DP=939;ExcessHet=0;FS=92.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	18	0	1	0
chr12	68315061	68315061	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G546C:p.E182D,MDM1:NM_001205028:exon9:c.G1281C:p.E427D,MDM1:NM_001354970:exon9:c.G1266C:p.E422D,MDM1:NM_001368282:exon9:c.G576C:p.E192D,MDM1:NM_017440:exon9:c.G1386C:p.E462D,MDM1:NM_001354969:exon10:c.G1416C:p.E472D,MDM1:NM_001354972:exon10:c.G576C:p.E192D,MDM1:NM_001354973:exon10:c.G576C:p.E192D,MDM1:NM_001354971:exon11:c.G576C:p.E192D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0031827643436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.359	0.17014	T	0.005	0.12996	B	0.011	0.15521	B	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.92	0.23082	T	-1.65	0.39503	N	0.073	0.11054	-1.0002	0.29860	T	0.033	0.14117	T	9	0.052917123	0.05401	T	0.003183	0.06966	T	0.011	0.01250	0.161	0.06507	0.0138822411134	0.00435	0.037265768819089454	0.03673	0.0562031697788	0.06208	0.215513035655	0.01067	T	0.082096	0.36749	T	-0.300284	0.08633	T	-0.669114	0.07665	T	0.0426887050271034	0.04181	T	0.374863	0.09932	T	0.0684382	0.14910	0.07738928	0.17236	0.0684382	0.14910	0.07738928	0.17236	-4.467	0.31188	T	.	.	0.093	0.14201	B	.;.	.;.	0.414059	0.07849	4.546	0.87582068365062615	0.17331	0.04595	0.10248	N	AEFBI	0.041789	0.06400	N	-1.07124952976041	0.07177	0.332625	-1.12447118557157	0.07235	0.3511444	0.037332668385275	0.14292	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	-0.395	0.11811	-0.395000	0.07347	-4.699000	0.02027	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.668:0.0:0.332	9.274	0.36846	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	217.33	42	chr12	68315061	.	C	G	217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.985;DP=941;ExcessHet=0;FS=94.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.82;SOR=6.665	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr12	68315063	68315063	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G544C:p.E182Q,MDM1:NM_001205028:exon9:c.G1279C:p.E427Q,MDM1:NM_001354970:exon9:c.G1264C:p.E422Q,MDM1:NM_001368282:exon9:c.G574C:p.E192Q,MDM1:NM_017440:exon9:c.G1384C:p.E462Q,MDM1:NM_001354969:exon10:c.G1414C:p.E472Q,MDM1:NM_001354972:exon10:c.G574C:p.E192Q,MDM1:NM_001354973:exon10:c.G574C:p.E192Q,MDM1:NM_001354971:exon11:c.G574C:p.E192Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00342059953463	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750682129	6.84e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.306	0.19972	T	0.963	0.55692	D	0.626	0.51600	P	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.85	0.24472	T	-1.84	0.43149	N	0.183	0.25499	-1.0764	0.08063	T	0.078	0.31193	T	9	0.09465468	0.16848	T	0.003421	0.07694	T	0.029	0.06676	0.16	0.06396	0.0297737177859	0.01360	0.08663214562108784	0.08597	0.0609736430081	0.06783	0.215153425932	0.01049	T	0.177327	0.52758	T	-0.388779	0.02739	T	-0.614703	0.11606	T	0.210991099476814	0.21005	T	0.451055	0.13966	T	0.07431545	0.16670	0.054519583	0.09394	0.07431545	0.16669	0.054519583	0.09393	-5.716	0.43836	T	.	.	0.099	0.16756	B	.;.	.;.	1.411540	0.18270	13.64	0.97601516828540724	0.34853	0.08619	0.14523	N	AEFBI	0.062606	0.12045	N	-0.364199966981064	0.26753	1.462543	-0.553687562118745	0.20708	1.116928	0.121320329683277	0.16888	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	2.66	0.30672	0.164000	0.16359	1.308000	0.25520	0.599000	0.40250	0.001000	0.13787	0.172000	0.23351	0.112000	0.18829	0.0:0.786:0.0:0.214	7.710	0.27839	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	230.33	42	chr12	68315063	.	C	G	230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-7.465;DP=945;ExcessHet=0;FS=97.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=2.15;SOR=6.735	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr12	68689044	68689044	A	G	exonic	NUP107	.	nonsynonymous SNV	NUP107:NM_020401:exon2:c.A91G:p.R31G	Nephrotic syndrome, type 11, Autosomal recessive	433	1070	19	0	0	19	0.00880037	.	.	.	738850	not_provided|Inborn_genetic_diseases|NUP107-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0120659583715	0.0002	0.000599042	0.0012	9.639e-05	0.0007	0	0	0.0004	0.0011	0.0062	0.0009961	154	154602	rs201609471	0.0008	0.0008	0.0005	0.0010	0.0070	0.0007	0.0007	0.0065	0.0063	0.0002	0.0007	0	2.522e-05	0	0.0059	0.0004	0.0008	0.0070	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0003	0.0031	0.0026	0	0	0.0005	0	0	0	0.0034	0.0005	0.0014	0.0046	0.009	0.57480	D	0.015	0.61642	D	0.329	0.33227	B	0.084	0.29270	B	0.000067	0.52346	D	0.159341	0.998622	0.81001	D	2.045	0.56016	M	.	.	.	-1.12	0.28906	N	0.376	0.41754	-0.9360	0.43241	T	0.143	0.46532	T	8	0.006508976	0.00147	T	0.012066	0.30309	T	0.159	0.41286	.	.	0.593227656836	0.59000	0.3672479438675008	0.36638	0.567370400024	0.53003	0.445908606052	0.31386	T	0.106635	0.41815	T	-0.108621	0.34996	T	0.074086	0.75183	D	0.0291333165716293	0.01858	T	0.839616	0.51418	T	0.13411403	0.31171	0.14004716	0.33395	0.14781201	0.33774	0.106848486	0.25711	-5.741	0.44057	T	.	.	0.140	0.30739	B	.	.	3.066156	0.41192	21.3	0.99646759884601788	0.77005	0.89027	0.49252	D	AEFBI	0.483172	0.52372	N	-0.000954418380508387	0.41810	2.507712	0.115402858010678	0.45335	2.798545	0.999984303803045	0.51787	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.45	4.23	0.49319	3.228000	0.50971	6.667000	0.56266	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.8385:0.1615:0.0:0.0	10.569	0.44375	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.008772	0.000000	0.017241	0.009146	0.007576	0.05263	2264.81	81	chr12	68689044	.	A	G	2264.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.96;SOR=0.934	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	1	0	0
chr12	69610268	69610268	A	T	exonic	LRRC10	.	nonsynonymous SNV	LRRC10:NM_201550:exon1:c.T571A:p.F191I	.	434	1083	5	0	0	5	0.00230309	.	.	.	527649	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.00426263446825	0.0006	.	0.0007	0	0	0	0.0032	0.0009	0.0011	0	0.0005821	90	154602	rs150202472	0.0009	0.0009	0.0010	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	2.987e-05	0.0003	0	0	0.0035	0.0005	0.0010	0.0005	0	0.0005	0.0005	0.0005	0.0006	0.0006	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0005	0	0	0.0024	0	0.0006	0	0.0002	0.39	0.10838	T	0.398	0.15109	T	0.003	0.11197	B	0.001	0.04355	B	0.003651	0.34662	N	0.358910	0.999999	0.08975	N	2.32	0.66415	M	1.85	0.24472	T	-1.37	0.33998	N	0.348	0.38950	-1.0730	0.08766	T	0.052	0.22076	T	10	0.012825191	0.00274	T	0.004263	0.10310	T	0.102	0.29158	.	.	0.313210971179	0.30940	0.42757741366366997	0.42674	0.299086279298	0.32277	0.369567960501	0.20770	T	0.148802	0.48752	T	-0.461212	0.00966	T	-0.509389	0.21379	T	0.0261265743501456	0.01423	T	0.770723	0.40088	T	0.121757545	0.28625	0.10637978	0.25591	0.121757545	0.28625	0.10637978	0.25591	-4.883	0.35543	T	.	.	0.265	0.49941	B	.	.	2.918170	0.38732	20.8	0.93262306007286999	0.22957	0.76186	0.37346	D	AEFBI	0.290697	0.40201	N	-0.0619835646805361	0.39068	2.298087	0.109178202225737	0.45017	2.772467	0.722277351917624	0.22946	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	4.41	0.52588	3.697000	0.54497	7.768000	0.68418	0.756000	0.94297	0.977000	0.34929	1.000000	0.68203	0.997000	0.79791	0.7475:0.1289:0.0:0.1236	8.964	0.35024	804	0.43891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1721.33	36	chr12	69610268	.	A	T	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=764;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.563;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	18	0	1	0
chr12	69927705	69927705	G	A	exonic	MYRFL	.	nonsynonymous SNV	MYRFL:NM_182530:exon15:c.G1787A:p.S596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0573170688497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.455	0.71248	M	2.13	0.19588	T	-1.63	0.39119	N	0.086	0.06322	-0.7576	0.57535	T	0.243	0.61107	T	6	0.17867932	0.32965	T	0.057317	0.66920	D	0.078	0.22779	.	.	0.222439326576	0.21863	0.35388294835534323	0.35302	.	.	.	.	.	0.027736	0.20247	T	-0.259459	0.12963	T	-0.610471	0.11947	T	0.333134130629374	0.26350	T	0.447055	0.12542	T	0.07980239	0.18251	0.22237156	0.47080	0.07980239	0.18250	0.22237156	0.47079	-6.449	0.49891	T	.	.	0.091	0.30022	B	.;.	.;.	2.528315	0.32681	19.12	0.98370045584322763	0.40740	0.75052	0.36731	D	AEFI	0.138666	0.26003	N	0.120758970824102	0.47433	2.968995	0.125880843249201	0.45878	2.843186	0.999529486584307	0.40175	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.77	2.95	0.33285	2.274000	0.43049	7.135000	0.57636	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.963000	0.52385	0.1829:0.0:0.8171:0.0	8.307	0.31207	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	302.33	41	chr12	69927705	.	G	A	302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.51;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	18	0	1	0
chr12	70329447	70329447	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G263A:p.G88E,CNOT2:NM_014515:exon5:c.G263A:p.G88E,CNOT2:NM_001199302:exon6:c.G263A:p.G88E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0249699400883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.056	0.60337	T	0.18	0.29046	B	0.016	0.17743	B	0.000092	0.51296	D	0.205934	1	0.81001	D	1.955	0.52871	M	0.61	0.53516	T	-2.61	0.87063	D	0.894	0.89465	-1.0689	0.09657	T	0.091	0.34928	T	10	0.44669622	0.58441	T	0.02497	0.47953	T	0.243	0.54921	0.295	0.25881	0.630911567125	0.62789	0.5893526410213833	0.58865	1.45052255294	0.86148	0.870351672173	0.92618	D	0.084226	0.37982	T	0.199477	0.73844	D	0.0487582	0.73503	D	0.943937063217163	0.61959	D	0.970003	0.92760	D	0.19678634	0.41519	0.35423598	0.60971	0.19678634	0.41519	0.35423598	0.60971	-8.645	0.65385	D	.	.	0.823	0.78641	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.601265	0.72877	25.9	0.99396539979002119	0.62610	0.98182	0.80315	D	AEFBI	0.939378	0.93989	D	0.0518739367113106	0.44228	2.700752	0.259013200612053	0.53164	3.486706	0.999999998541904	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.754000	0.84040	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	88.22	34	chr12	70329447	.	G	A	88.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.759;DP=865;ExcessHet=0.119;FS=143.341;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.14;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	17	0	2	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:69:.:.:0,69,1166:.	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:92:0|1:70329451_G_A:92,0,1902:70329451	2	0	6	11
chr12	70329453	70329453	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G269A:p.S90N,CNOT2:NM_014515:exon5:c.G269A:p.S90N,CNOT2:NM_001199302:exon6:c.G269A:p.S90N	.	.	.	.	.	.	.	.	.	.	.	3516871	CNOT2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00989993321446	.	.	8.269e-06	0	8.78e-05	0	0	0	0	0	6.5e-06	1	154602	rs771989980	6.355e-06	8.692e-06	4.804e-06	7.882e-06	9.024e-05	2.73e-06	1.98e-06	3.003e-05	1.817e-05	0	9.024e-05	0	0	0	0	4.315e-06	0	0	6.641e-06	6.589e-06	0	1.362e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.68238	D	0.506	0.19721	T	0.18	0.29046	B	0.035	0.22741	B	0.000025	0.55875	D	0.192355	0.947562	0.37573	D	1.525	0.38595	L	0.86	0.46777	T	-0.94	0.49519	N	0.201	0.22357	-1.0377	0.18016	T	0.088	0.33996	T	10	0.12842554	0.24431	T	0.010	0.25788	T	0.085	0.24743	0.133	0.03747	0.50001199887	0.49638	0.3289345986857531	0.32806	0.991300443966	0.74079	0.801624059677	0.82210	T	0.048625	0.28073	T	-0.329497	0.06150	T	-0.513433	0.20962	T	0.161027878522873	0.17947	T	0.89941	0.68582	D	0.13152388	0.30653	0.14989017	0.35372	0.13152388	0.30653	0.14989017	0.35371	-3.621	0.18161	T	.	.	0.146	0.36436	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.355962	0.46308	22.3	0.98825779678181824	0.46869	0.91311	0.53278	D	AEFBI	0.486740	0.52578	N	-0.0885869228343376	0.37891	2.211183	0.12188551889719	0.45670	2.826103	0.999964577184135	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	3.248000	0.51131	9.888000	0.82251	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1172.09	65	chr12	70329453	.	G	A	1172.09	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.752;DP=1246;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4613;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.911;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:92:0|1:70329451_G_A:92,0,1902:70329451	5	0	2	12
chr12	70556020	70556020	C	T	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon16:c.G3919A:p.V1307I,PTPRB:NM_001206972:exon16:c.G3919A:p.V1307I,PTPRB:NM_002837:exon17:c.G4189A:p.V1397I,PTPRB:NM_001330204:exon18:c.G4579A:p.V1527I,PTPRB:NM_001109754:exon19:c.G4843A:p.V1615I	.	422	1098	2	0	0	2	0.000909918	.	.	.	4063718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0042988024527	8.4e-05	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0004	0.0001876	29	154602	rs201518333	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0005	0.0005	8.961e-05	8.947e-05	0	2.519e-05	7.491e-05	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.24e-05	0	0	0	0	0.0002	0	0.0003	0	0.0004	0.468	0.12837	T	0.295	0.23231	T	0.0	0.09854	B	0.007	0.18140	B	0.000321	0.45700	N	0.187232	0.875556	0.29023	N	0.805	0.20218	L	0.6	0.53943	T	-0.2	0.11185	N	0.057	0.09772	-1.0181	0.24334	T	0.090	0.34491	T	10	0.020546228	0.00475	T	0.004299	0.10435	T	0.054	0.15330	.	.	0.200294437569	0.19612	0.18755189097923705	0.18673	0.341690153391	0.36107	0.304142385721	0.11022	T	0.039777	0.36587	T	-0.519395	0.00444	T	-0.655891	0.08546	T	0.0262892176668908	0.01445	T	0.851715	0.54045	D	0.036957677	0.04647	0.032378227	0.01963	0.036957677	0.04647	0.032378227	0.01963	-3.638	0.19259	T	.	.	0.062	0.01428	B	.;.;.;.;.	.;.;.;.;.	2.514646	0.32483	19.06	0.97958936760774351	0.37158	0.34680	0.25124	N	AEFBCI	0.115613	0.22724	N	-0.422986364322209	0.24666	1.333438	-0.255082516089416	0.29596	1.659424	0.98059218150485	0.30154	0.67177	0.52595	0	0.588015	0.36545	0	0.657636	0.52715	0	0.711	0.71501	0	.	.	5.56	4.6	0.56512	0.781000	0.26435	6.037000	0.52980	0.599000	0.40250	0.429000	0.26401	1.000000	0.68203	0.999000	0.91618	0.0:0.7505:0.0:0.2495	7.077	0.24388	735	0.53711	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1886.33	33	chr12	70556020	.	C	T	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.463;DP=797;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.561;SOR=0.668	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1304	18	0	1	0
chr12	70569879	70569879	C	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon11:c.G2506T:p.V836L,PTPRB:NM_001206972:exon12:c.G2776T:p.V926L,PTPRB:NM_002837:exon12:c.G2776T:p.V926L,PTPRB:NM_001330204:exon13:c.G3166T:p.V1056L,PTPRB:NM_001109754:exon14:c.G3430T:p.V1144L	.	418	1089	15	0	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	0.0002	0.00319489	0.0017	0.0001	8.755e-05	0	0	0.0002	0.0011	0.0113	0.0015136	234	154602	rs201160280	0.0009	0.0009	0.0006	0.0012	0.0114	0.0008	0.0008	0.0108	0.0105	5.977e-05	0	0.0027	0	0	0.0010	0.0002	0.0010	0.0114	0.0005	0.0005	0.0003	0.0007	0.0093	0.0004	0.0004	0.0072	0.0064	0.0001	0	0	0.0049	0.0002	0	0	0.0001	0.0009	0.0093	0.027	0.53900	D	0.006	0.92824	D	0.998	0.77913	D	0.971	0.73562	D	0.000002	0.62929	D	0.058217	1	0.81001	D	2.895	0.83812	M	3.69	0.04114	T	-1.53	0.41428	N	0.733	0.75650	-1.0834	0.06702	T	0.047	0.20235	T	10	0.008271724	0.00188	T	.	.	.	0.234	0.53644	0.426	0.47185	0.442492808307	0.43871	0.5002483743775802	0.49945	0.498353759159	0.48309	0.573220491409	0.49132	T	0.067886	0.44146	T	-0.267928	0.11989	T	-0.148242	0.59399	T	0.111708208111	0.13599	T	0.908809	0.81406	D	0.27998886	0.51048	0.22616558	0.47586	0.27998886	0.51047	0.22616558	0.47585	-8.246	0.64621	D	.	.	0.286	0.59733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.884855	0.56491	23.7	0.99762952167761254	0.85254	0.98190	0.80386	D	AEFDBI	0.786975	0.71690	D	0.527429464316778	0.68717	5.25585	0.501910177935566	0.68121	5.17629	0.999999985249669	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	5.574000	0.67124	3.985000	0.40938	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.158000	0.20581	0.0:1.0:0.0:0.0	19.318	0.94212	729	0.54495	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.05263	4904.83	33	chr12	70569879	.	C	A	4904.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.212;DP=1150;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=2.73;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	17	0	2	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:58,26:94:36:36,0,1084	7	0	5	7
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.02632	1570.33	35	chr12	71577986	.	C	G	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.204;DP=751;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.78;SOR=0.814	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1584,0,1605	18	0	1	0
chr12	76030754	76030754	G	C	exonic	PHLDA1	.	nonsynonymous SNV	PHLDA1:NM_007350:exon1:c.C988G:p.Q330E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.295840032442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.134	0.36101	T	0.055	0.22733	B	0.038	0.23361	B	0.036158	0.24557	N	0.254138	0.938056	0.26874	N	1.905	0.50856	L	-1.41	0.80560	T	-0.29	0.11728	N	0.231	0.28264	-0.4592	0.70094	T	0.381	0.73766	T	10	0.2138386	0.37888	T	0.29584	0.90719	D	0.315	0.63694	0.265	0.21103	0.639084873237	0.63611	0.07507180286224341	0.07443	0.683597874997	0.60172	0.521913588047	0.41896	T	0.029922	0.21330	T	-0.0491695	0.44574	T	-0.308405	0.43829	T	0.274806290864944	0.23952	T	0.840716	0.54193	T	0.16211261	0.36266	0.22878087	0.47930	0.16211261	0.36266	0.22878087	0.47928	-8.578	0.64944	D	.	.	0.143	0.31406	B	.;.;.	.;.;.	2.030332	0.25802	16.89	0.97910314408338806	0.36808	0.19107	0.20530	N	AEFDBHCI	0.236234	0.35871	N	-0.331552412303994	0.27955	1.53801	-0.266871633405572	0.29196	1.633856	0.999999999999497	0.74766	0.441713	0.08003	0	0.435331	0.06439	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	4.62	0.56946	0.470000	0.21795	6.990000	0.57158	0.590000	0.31872	0.000000	0.06391	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	15.783	0.78047	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1501.33	38	chr12	76030754	.	G	C	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.967;DP=866;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=1.38;SOR=0.758	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,107,1633	18	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	141.02	37	chr12	76059802	.	A	G	141.02	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=1177;ExcessHet=0.3672;FS=203.377;InbreedingCoeff=-0.1169;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.53;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1146:.	14	0	3	2
chr12	76346285	76346285	A	G	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.T1700C:p.I567T	Bardet-Biedl syndrome 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	956945	Bardet-Biedl_syndrome|BBS10-related_disorder|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|.|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0330729412953	7.7e-05	0.000199681	4.961e-05	0	0	0.0002	0	1.502e-05	0	0.0002	4.53e-05	7	154602	rs373626588	1.642e-05	1.642e-05	1.498e-05	1.788e-05	0.0004	1.111e-05	9.34e-06	0.0002	0.0002	0	0	0	0.0004	0	0	8.995e-07	1.657e-05	9.28e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	0.235	0.24767	T	0.146	0.27821	B	0.038	0.23361	B	0.263373	0.03724	N	1.506310	1	0.08975	N	1.955	0.52871	M	-1.95	0.85003	D	0.42	0.03352	N	0.046	0.01825	-0.7802	0.56291	T	0.417	0.76326	T	10	0.025939226	0.00773	T	0.033073	0.54726	D	0.184	0.45763	.	.	0.608345586348	0.60520	0.1363033304998971	0.13554	0.0705207017891	0.07900	0.336447238922	0.15906	T	0.14637	0.48394	T	-0.316958	0.07150	T	-0.363064	0.37698	T	0.0169096687853122	0.00443	T	0.305869	0.05863	T	0.026004452	0.01604	0.043450266	0.05408	0.026004452	0.01604	0.043450266	0.05407	-3.029	0.10497	T	0.11913371184519053	0.11064	0.087	0.11366	B	.;.	.;.	-0.563333	0.01674	0.120	0.46334595298226339	0.03704	0.05337	0.11192	N	AEFDBCI	0.057516	0.10720	N	-1.07923643904761	0.07026	0.3252092	-1.1745896581535	0.06337	0.3047141	0.99997174060783	0.50053	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.95	-2.67	0.05703	-1.584000	0.02217	-0.153000	0.11399	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.3069:0.1982:0.0:0.4949	6.872	0.23309	953	0.10115	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1980.33	34	chr12	76346285	.	A	G	1980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.632;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	18	0	1	0
chr12	76346354	76346354	T	C	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.A1631G:p.N544S	Bardet-Biedl syndrome 10, Autosomal recessive	2	1469	47	4	0	55	0.0183762	.	.	.	177273	not_provided|not_specified|Bardet-Biedl_syndrome_10|Bardet-Biedl_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0067	0.00658946	0.0074	0.0027	0.0046	0	0.0044	0.0077	0.0110	0.0161	0.0073479	1136	154602	rs34737974	0.0081	0.0081	0.0078	0.0083	0.0227	0.0079	0.0079	0.0195	0.0184	0.0023	0.0057	0.0154	5.04e-05	0.0030	0.0227	0.0080	0.0095	0.0151	0.0066	0.0066	0.0067	0.0064	0.0155	0.0062	0.0061	0.0127	0.0117	0.0029	0.0548	0.0077	0.0170	0.0002	0.0037	0.0374	0.0075	0.0080	0.0155	0.129	0.26852	T	0.235	0.24767	T	0.0	0.02946	B	0.001	0.04355	B	0.793385	0.09379	N	0.898598	1	0.08975	N	1.195	0.30194	L	-1.99	0.85320	D	-0.34	0.12661	N	0.055	0.02658	-0.8580	0.51406	T	0.270	0.64141	T	10	0.002981037	0.00048	T	.	.	.	0.075	0.21907	.	.	0.462809833587	0.45907	0.18467108696675422	0.18385	0.0498074525689	0.05466	0.230875551701	0.02033	T	0.120035	0.44199	T	-0.478959	0.00750	T	-0.447794	0.27940	T	0.00381031826751562	0.00040	T	0.40486	0.10377	T	0.038737368	0.05218	0.031991135	0.01867	0.036839508	0.04609	0.03304684	0.02135	-2.628	0.06719	T	0.2661999080791981	0.35880	0.071	0.03964	B	.;.	.;.	0.439928	0.08101	4.829	0.46311100480955264	0.03700	0.10532	0.16013	N	AEFDBCIJ	0.058956	0.11099	N	-1.1809744289882	0.05288	0.2407013	-1.19808015730085	0.05943	0.2845768	0.999911099153308	0.45857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.95	0.016	0.13429	0.279000	0.18532	1.003000	0.23275	-0.137000	0.12594	0.000000	0.06391	0.822000	0.27135	0.010000	0.09038	0.0:0.2316:0.1416:0.6268	5.305	0.15108	953	0.10115	.;.	.	.	.	.	rs34737974	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.025680	0.015152	0.035326	0.035088	0.000000	0.017241	0.024390	0.015152	0.05263	3871.83	34	chr12	76346354	.	T	C	3871.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.373;DP=888;ExcessHet=0.119;FS=1.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.27;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	17	0	2	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.02632	1274.33	36	chr12	79621147	.	T	C	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.807;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	79690054	79690054	G	A	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon2:c.C191T:p.A64V,PAWR:NM_001354733:exon2:c.C191T:p.A64V,PAWR:NM_002583:exon2:c.C191T:p.A64V	.	434	1086	2	0	0	2	0.000919963	.	.	.	2288011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.138159967926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.264e-06	1.437e-05	6.445e-06	1.018e-05	0.0003	4.18e-06	3.05e-06	6.51e-06	2.43e-06	0	0	0	0	0	0.0003	4.002e-06	6.059e-05	3.924e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.53900	D	0.063	0.45110	T	0.827	0.45966	P	0.424	0.45210	B	0.030997	0.25230	U	0.142348	0.999994	0.08975	N	1.7	0.43825	L	3.13	0.53302	T	-0.67	0.40468	N	0.162	0.17002	-1.0573	0.12439	T	0.069	0.28213	T	9	0.19060493	0.34711	T	0.13816	0.82066	D	0.071	0.20720	0.19	0.10039	0.433491693731	0.42969	0.207918658795988	0.20707	0.445454196181	0.44437	0.860806524754	0.91230	D	0.25691	0.62787	T	-0.0978854	0.36776	T	-0.378382	0.35912	T	0.547994494438171	0.34402	D	0.549745	0.18930	T	0.07445778	0.16711	0.075390086	0.16592	0.07445778	0.16710	0.075390086	0.16591	-5.898	0.45418	T	.	.	0.128	0.27313	B	.;.	.;.	1.798714	0.22860	15.79	0.9950502344593235	0.68264	0.06933	0.12959	N	ALL	0.109283	0.21710	N	-0.530170232609517	0.21110	1.117875	-0.623722782268686	0.18884	1.010797	0.999999999978027	0.74766	0.733237	0.96898	0	0.218748	0.04544	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	2.45	2.45	0.28953	2.342000	0.43648	2.218000	0.31426	0.371000	0.20270	0.070000	0.22072	0.196000	0.23534	0.007000	0.07825	0.0:0.0:1.0:0.0	11.023	0.46942	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	215.33	22	chr12	79690054	.	G	A	215.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=585;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.648;SOR=0.627	GT:AD:DP:GQ:PL	0/1:18,10:28:99:229,0,533	18	0	1	0
chr12	80262009	80262009	G	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon19:c.G1903A:p.A635T,OTOGL:NM_173591:exon19:c.G1903A:p.A635T,OTOGL:NM_001378610:exon22:c.G1903A:p.A635T,OTOGL:NM_001368062:exon24:c.G1903A:p.A635T	Deafness, autosomal recessive 84B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2534082	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0349564107278	.	.	1.66e-05	0.0001	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs777164325	1.506e-05	1.573e-05	1.362e-05	1.651e-05	2.991e-05	9.86e-06	8.42e-06	1.214e-05	1.031e-05	2.991e-05	0	0	0	0	0	1.89e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.02	0.49613	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	2.1	0.19990	T	-2.66	0.56945	D	0.643	0.65501	-0.8735	0.50264	T	0.154	0.48464	T	7	0.5693994	0.65233	D	0.034956	0.56025	D	0.209	0.49871	.	.	0.143124449307	0.13826	0.6987352929827518	0.69814	0.115497255454	0.13025	0.594954609871	0.52192	T	.	.	.	-0.132744	0.31053	T	-0.246926	0.50121	T	0.938530564308167	0.60923	D	0.847115	0.52772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.47005	B	.;.;.	.;.;.	3.918338	0.57191	23.8	0.99921118999475089	0.98787	0.97502	0.75165	D	AEFBI	0.764950	0.70158	D	0.476467338447342	0.65720	4.857951	0.498896512691315	0.67916	5.148689	0.999999999439769	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	5.254000	0.65274	8.616000	0.77790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	19.553	0.95320	534	0.73357	von Willebrand factor, type D domain;.;von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.02632	1032.33	38	chr12	80262009	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=765;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.502;SOR=1.105	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1230	18	0	1	0
chr12	80310704	80310704	A	G	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon30:c.A3400G:p.I1134V,OTOGL:NM_173591:exon30:c.A3400G:p.I1134V,OTOGL:NM_001378610:exon33:c.A3400G:p.I1134V,OTOGL:NM_001368062:exon34:c.A3265G:p.I1089V	Deafness, autosomal recessive 84B, Autosomal recessive	12	1503	6	1	0	8	0.00265428	.	.	.	230386	not_provided|not_specified|Inborn_genetic_diseases|OTOGL-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0232263080475	0.0030	0.00219649	0.0025	0.0002	0.0024	0	0.0003	0.0039	0.0034	0.0003	0.0026132	404	154602	rs117462138	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0007	0.0020	0.0074	0	0.0006	0.0024	0.0043	0.0029	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0035	0.0034	0.0007	0	0.0023	0.0040	0	0.0007	0.0034	0.0039	0.0038	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999437	0.21199	N	.	.	.	-0.92	0.75108	T	0.41	0.03407	N	0.137	0.13484	-0.9837	0.34140	T	0.066	0.27121	T	7	0.015127599	0.00318	T	0.023226	0.46179	T	0.099	0.28413	.	.	0.112648838833	0.10856	0.18592276383119322	0.18510	0.0211005451595	0.02089	0.312833666801	0.12336	T	.	.	.	-0.560979	0.00250	T	-0.574439	0.15044	T	0.00659066536948768	0.00074	T	0.464953	0.14626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02960	B	.;.;.	.;.;.	0.454422	0.08244	4.985	0.43489571834481894	0.03278	0.22786	0.21862	N	AEFBI	0.097106	0.19593	N	-0.657167132112421	0.17252	0.8861476	-0.491519744108896	0.22386	1.215648	1.76905571507329E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	0.396	0.15532	1.010000	0.29500	1.237000	0.25081	-0.156000	0.11795	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3345:0.1006:0.5649:0.0	8.403	0.31758	575	0.70088	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;.;Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2240.33	35	chr12	80310704	.	A	G	2240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=780;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.071;SOR=0.452	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr12	80358283	80358283	C	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon50:c.C6028A:p.H2010N,OTOGL:NM_173591:exon50:c.C6028A:p.H2010N,OTOGL:NM_001378610:exon53:c.C6028A:p.H2010N,OTOGL:NM_001368062:exon54:c.C5893A:p.H1965N	Deafness, autosomal recessive 84B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	230415	not_provided|not_specified|OTOGL-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0012	0	0.0002	0.0001	0	3.569e-05	0	0.0084	0.0008926	138	154602	rs201869161	0.0004	0.0004	0.0002	0.0005	0.0059	0.0004	0.0003	0.0055	0.0053	2.99e-05	0	0	5.048e-05	0	0.0003	6.301e-06	0.0006	0.0059	0.0002	0.0002	7.711e-05	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	0	0	0	0	0	0	0	0.0070	0.275	0.15770	T	0.583	0.08419	T	.	.	.	.	.	.	0.191862	0.03256	N	1.661690	1	0.08975	N	.	.	.	1.5	0.31205	T	0.43	0.03297	N	0.147	0.14905	-1.0583	0.12184	T	0.021	0.08732	T	10	0.0061320662	0.00138	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.11681029350673967	0.11609	0.0228688274236	0.02315	0.261166632175	0.05030	T	.	.	.	-0.644082	0.00079	T	-0.694509	0.06130	T	0.00923485272037904	0.00117	T	0.0420958	0.00294	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00382	B	.;.;.	.;.;.	-1.061620	0.00688	0.020	0.39261825532679812	0.02698	0.01590	0.05170	N	AEFBI	0.032314	0.03624	N	-1.52165847136751	0.01707	0.07473768	-1.48000621202805	0.02508	0.1154846	0.00632736120366501	0.11188	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.39	-3.52	0.04383	0.826000	0.27061	0.397000	0.17956	-1.590000	0.00907	0.170000	0.23934	0.000000	0.08366	0.001000	0.02609	0.4261:0.2309:0.1273:0.2157	1.020	0.01421	679	0.60090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1553.33	36	chr12	80358283	.	C	A	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.272;DP=774;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.189;SOR=0.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	18	0	1	0
chr12	80377139	80377139	A	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon58:c.A6771T:p.R2257S,OTOGL:NM_173591:exon58:c.A6771T:p.R2257S,OTOGL:NM_001378610:exon61:c.A6771T:p.R2257S,OTOGL:NM_001368062:exon62:c.A6636T:p.R2212S	Deafness, autosomal recessive 84B, Autosomal recessive	22	1497	3	0	0	3	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0143797368158	.	.	8.337e-06	0	0	0	0	0	0	6.154e-05	6.5e-06	1	154602	rs775109108	8.245e-06	8.209e-06	8.202e-06	8.288e-06	0.0002	4.4e-06	3.47e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	4.511e-06	1.664e-05	5.875e-05	6.575e-06	6.566e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000104	0.50451	D	0.123853	0.744794	0.33862	D	.	.	.	2.44	0.15145	T	-4.27	0.76254	D	0.604	0.62188	-1.0501	0.14369	T	0.043	0.18326	T	10	0.2658444	0.44084	T	0.01438	0.34458	T	0.099	0.28413	.	.	0.0846915920261	0.08053	0.4830935075549134	0.48229	0.167897587978	0.18931	0.435053765774	0.29901	T	.	.	.	-0.266945	0.12099	T	-0.416674	0.31457	T	0.85589462518692	0.50681	D	0.835616	0.50622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.77579	P	.;.;.	.;.;.	3.771576	0.54171	23.5	0.99587440405562422	0.73395	0.95616	0.65436	D	AEFBIJ	0.521469	0.54589	D	-0.157422090659677	0.34921	1.999	-0.123766265139654	0.34435	1.980703	1.68914747530022E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.32	0.432	0.15742	1.295000	0.32983	2.289000	0.31947	0.691000	0.84096	0.998000	0.41325	0.995000	0.32472	0.993000	0.69303	0.6261:0.0:0.3739:0.0	9.634	0.38960	778	0.48011	Cystine knot, C-terminal;.;Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1755.81	36	chr12	80377139	.	A	T	1755.81	.	AC=2;AF=0.053;AN=38;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.76;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	1	0	0
chr12	80632198	80632198	G	T	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon34:c.G5693T:p.G1898V	Deafness, autosomal recessive 84A, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0178665455694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.72	0.72209	-0.8478	0.52120	T	0.210	0.57027	T	8	0.66570306	0.70414	D	0.017867	0.39735	T	.	.	0.471	0.54537	0.315314060047	0.31143	0.7515412886047196	0.75101	.	.	0.652577519417	0.60352	T	0.029383	0.21067	T	0.439664	0.92007	D	0.39377	0.91908	D	0.972108114195079	0.69571	D	0.886911	0.61435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44694	B	.;.;.	.;.;.	4.779109	0.77442	26.7	0.99554984871368668	0.71397	0.99237	0.93252	D	AEFBI	0.769573	0.70479	D	0.604506106057671	0.73457	5.969556	0.603194188453825	0.75171	6.26372	0.999999993471827	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	7.411000	0.79291	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.881	0.92328	908	0.22609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr12	80632198	.	G	T	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.397;DP=705;ExcessHet=0;FS=1.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.161;SOR=0.507	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr12	80673197	80673197	A	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon43:c.A6631G:p.I2211V	Deafness, autosomal recessive 84A, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	.	1240544	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.160	.	.	0.00579073	0.0022	0	0	0.0434	0	0.0005	0.0165	0.0015	0.0006533	101	154602	rs74971960	0.0014	0.0013	0.0014	0.0014	0.0440	0.0013	0.0013	0.0422	0.0415	0	0	0.0013	0.0440	6.089e-05	0.0011	0.0001	0.0019	0.0009	0.0016	0.0017	0.0012	0.0021	0.0408	0.0015	0.0014	0.0363	0.0345	0	0	0.0001	0.0003	0.0408	0.0002	0	0.0004	0.0014	0.0012	.	.	.	0.135	0.34959	T	.	.	.	.	.	.	0.000726	0.42129	D	0.000000	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.499	0.53181	-1.0693	0.09567	T	0.008	0.02801	T	9	0.009433836	0.00213	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.13262428847474858	0.13186	.	.	0.724681377411	0.70729	T	0.021961	0.17012	T	-0.237469	0.15672	T	-0.0788466	0.64989	T	0.0610855363221974	0.07338	T	0.889011	0.62583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12037	B	.;.;.	.;.;.	2.791503	0.36698	20.3	0.99455177133231376	0.65479	0.95870	0.66508	D	AEFDI	0.713929	0.66657	D	0.124054001019825	0.47587	2.982312	0.297749098050409	0.55409	3.703864	0.999853548042751	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	5.933000	0.69846	9.252000	0.79496	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8555:0.0:0.1445:0.0	8.493	0.32273	903	0.23940	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002545	0.000000	0.000000	0.000000	0.000000	0.000000	0.005952	0.013158	0.02632	1818.33	34	chr12	80673197	.	A	G	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.31;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1380	18	0	1	0
chr12	80717106	80717106	T	C	exonic	MYF5	.	nonsynonymous SNV	MYF5:NM_005593:exon1:c.T43C:p.F15L	.	391	1130	0	1	0	2	0.000884173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.0817507142033	.	.	3.339e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs759444857	2.329e-05	2.326e-05	8.181e-06	3.856e-05	0.0004	1.677e-05	1.48e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.338	0.18125	T	0.997	0.70673	D	0.989	0.78396	D	0.000001	0.84330	D	0.095260	0.999814	0.49394	D	1.46	0.36832	L	-1.27	0.79277	T	-3.33	0.66206	D	0.532	0.56058	0.079	0.83785	D	0.566	0.84262	D	10	0.6273556	0.68319	D	0.081751	0.73751	D	0.678	0.88157	0.803	0.92160	0.947272906053	0.94672	0.43982633568774876	0.43899	0.767352288769	0.64580	0.725998520851	0.70922	T	0.79494	0.94711	D	-0.117021	0.33611	T	-0.101321	0.63297	T	0.72959566116333	0.42189	D	0.793221	0.43505	T	0.43625405	0.63160	0.36961377	0.62228	0.43625405	0.63161	0.36961377	0.62228	-3.323	0.14035	T	.	.	0.793	0.76956	P	.	.	3.986496	0.58638	24.0	0.99809182636192773	0.89353	0.99172	0.92291	D	AEFDBIJ	0.680089	0.64390	D	0.615483550140484	0.74153	6.084608	0.604958291507379	0.75300	6.286075	0.999999999263643	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	6.17	5.0	0.66209	4.789000	0.62139	6.149000	0.54167	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.1358:0.8641	12.876	0.57377	854	0.34840	Myogenic basic muscle-specific protein|Myogenic basic muscle-specific protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1514.33	34	chr12	80717106	.	T	C	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.445;DP=793;ExcessHet=0;FS=6.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.085;SOR=0.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1221	18	0	1	0
chr12	81134995	81134995	T	G	exonic	ACSS3	.	nonsynonymous SNV	ACSS3:NM_001330242:exon3:c.T633G:p.D211E,ACSS3:NM_024560:exon3:c.T636G:p.D212E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0076759109691	.	.	8.335e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs766353030	1.383e-06	1.368e-06	0	2.781e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.15047	T	0.429	0.13752	T	0.978	0.58756	D	0.78	0.57283	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.75	0.19020	N	1.17	0.37910	T	-2.42	0.53096	N	0.341	0.38335	-1.1037	0.03672	T	0.060	0.25127	T	10	0.28749973	0.46333	T	0.007676	0.20378	T	0.267	0.58126	0.296	0.26041	0.134241683229	0.13084	0.4639780860977744	0.46316	0.354553372134	0.37225	0.554288864136	0.46462	T	0.206395	0.63869	T	-0.0961317	0.37065	T	-0.375863	0.36204	T	0.512191236019135	0.33078	D	0.959004	0.84742	D	0.20844096	0.43081	0.16338266	0.37904	0.20844096	0.43081	0.16338266	0.37903	-5.494	0.41812	T	.	.	0.199	0.42259	B	.;.	.;.	2.453521	0.31600	18.79	0.99271787174497939	0.57593	0.88550	0.48530	D	AEFGBI	0.665272	0.63415	D	-0.249053119861539	0.31140	1.743236	-0.200048701356601	0.31536	1.785594	1.42734923547126E-4	0.05573	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	0.922	0.18534	0.913000	0.28233	-0.286000	0.10231	-0.278000	0.06506	1.000000	0.71638	0.423000	0.24817	0.897000	0.43391	0.0:0.2666:0.0:0.7334	9.369	0.37406	802	0.44336	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	611.33	38	chr12	81134995	.	T	G	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=679;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.36;SOR=1.189	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H,PPFIA2:NM_001220480:exon18:c.G902A:p.R301H,PPFIA2:NM_001220477:exon25:c.G3041A:p.R1014H,PPFIA2:NM_001220478:exon25:c.G3029A:p.R1010H,PPFIA2:NM_001282536:exon26:c.G2885A:p.R962H,PPFIA2:NM_001220475:exon27:c.G3281A:p.R1094H,PPFIA2:NM_001220473:exon28:c.G3344A:p.R1115H,PPFIA2:NM_001220474:exon28:c.G3299A:p.R1100H,PPFIA2:NM_001220476:exon28:c.G3326A:p.R1109H,PPFIA2:NM_003625:exon29:c.G3344A:p.R1115H	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.008152	0.005848	0.000000	0.017241	0.006098	0.034091	0.05263	2330.83	33	chr12	81268054	.	C	T	2330.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.4;DP=816;ExcessHet=0.119;FS=3.791;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.084;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	17	0	2	0
chr12	81339315	81339315	C	G	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon11:c.G1114C:p.E372Q,PPFIA2:NM_001220480:exon12:c.G64C:p.E22Q,PPFIA2:NM_001220478:exon17:c.G2116C:p.E706Q,PPFIA2:NM_001220477:exon18:c.G2191C:p.E731Q,PPFIA2:NM_001282536:exon18:c.G1954C:p.E652Q,PPFIA2:NM_001220474:exon19:c.G2359C:p.E787Q,PPFIA2:NM_001220473:exon20:c.G2413C:p.E805Q,PPFIA2:NM_001220475:exon20:c.G2413C:p.E805Q,PPFIA2:NM_001220476:exon20:c.G2413C:p.E805Q,PPFIA2:NM_003625:exon21:c.G2413C:p.E805Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0101776941763	.	0.000199681	3.397e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs575692311	2.012e-05	2.121e-05	1.242e-05	2.79e-05	0.0003	1.412e-05	1.221e-05	0.0002	0.0002	0	0	0	0	0	0	0	3.365e-05	0.0003	1.315e-05	1.313e-05	1.287e-05	1.345e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.092	0.31682	T	0.442	0.22016	T	0.993	0.65571	D	0.968	0.71741	D	0.000001	0.84330	D	0.054229	1	0.81001	D	1.11	0.28643	L	1.46	0.32238	T	-0.65	0.25332	N	0.354	0.51672	-1.0169	0.24722	T	0.162	0.49814	T	10	0.17035735	0.31695	T	0.010178	0.26412	T	0.174	0.44019	0.145	0.04843	0.52029155784	0.51673	0.3877102413503237	0.38686	0.614684237112	0.55976	0.560583651066	0.47350	T	0.030358	0.21540	T	-0.296825	0.08963	T	-0.353626	0.38790	T	0.278664754799375	0.24115	T	0.970003	0.89184	D	0.21942842	0.44474	0.19121166	0.42568	0.21942842	0.44474	0.19121166	0.42567	-4.501	0.45410	T	.	.	0.112	0.33319	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.825449	0.95786	35	0.99519932116507959	0.69161	0.99814	0.99640	D	AEFI	0.959782	0.98027	D	0.64781032130792	0.76226	6.447702	0.663506418969932	0.79621	7.121026	0.999999987228113	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	7.713000	0.83653	7.706000	0.66547	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.513	0.95141	844	0.36711	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	703.33	36	chr12	81339315	.	C	G	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.031;DP=664;ExcessHet=0;FS=1.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.058;SOR=0.414	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.02632	2792.33	34	chr12	82896304	.	G	A	2792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.319;DP=836;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.81;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr12	84861780	84861780	G	A	exonic	SLC6A15	.	nonsynonymous SNV	SLC6A15:NM_001146335:exon11:c.C1724T:p.P575L,SLC6A15:NM_182767:exon12:c.C2045T:p.P682L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0297094916601	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs528847039	6.841e-06	6.84e-06	5.445e-06	8.251e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0.0002	4.497e-06	1.656e-05	2.319e-05	1.972e-05	1.969e-05	0	4.035e-05	1.471e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0068	1.471e-05	0	0	0.001	0.78490	D	0.006	0.72224	D	0.239	0.30839	B	0.094	0.30180	B	0.099114	0.19949	N	0.581510	0.999925	0.81001	D	2.19	0.61577	M	-0.8	0.75911	T	-2.56	0.57599	D	0.158	0.39861	-0.5541	0.66630	T	0.312	0.68229	T	10	0.2849264	0.46075	T	0.029709	0.52165	D	0.295	0.61502	0.401	0.43081	0.834584125371	0.83301	0.6104882319211863	0.60980	0.323843627622	0.34541	0.316164851189	0.12840	T	0.480456	0.80944	T	-0.107756	0.35138	T	-0.295706	0.45175	T	0.550360321998596	0.34491	D	0.963804	0.86607	D	0.08366726	0.19330	0.11992766	0.28944	0.08366726	0.19329	0.11992766	0.28943	-3.496	0.16375	T	.	.	0.127	0.26886	B	.;.	.;.	3.399249	0.47096	22.4	0.97020224906884511	0.32022	0.99011	0.89930	D	AEFBI	0.878115	0.80317	D	0.0464201272380443	0.43976	2.680332	0.112084492214756	0.45165	2.784629	0.978955676342942	0.29975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	9.444000	0.96751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.8571:0.1428	14.943	0.70661	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2214.33	33	chr12	84861780	.	G	A	2214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=772;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.581;SOR=0.81	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	84863448	84863448	A	C	exonic	SLC6A15	.	nonsynonymous SNV	SLC6A15:NM_001146335:exon10:c.T1488G:p.I496M,SLC6A15:NM_182767:exon11:c.T1809G:p.I603M	.	444	1075	3	0	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0209260710401	.	0.000599042	0.0004	0	0	0.0035	0	4.509e-05	0.0022	0.0008	0.0003558	55	154602	rs3782369	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0042	0.0039	0	3.173e-05	0	0.0047	1.887e-05	0.0002	1.186e-05	0.0003	0.0009	0.0001	0.0001	0.0001	0.0002	0.0035	9.146e-05	7.702e-05	0.0023	0.0019	0	0	0	0	0.0035	9.429e-05	0	2.941e-05	0	0	0.218	0.43393	T	0.223	0.51112	T	0.01	0.15535	B	0.021	0.22546	B	0.000035	0.55875	N	0.153716	0.929137	0.36917	D	2.52	0.73523	M	-0.91	0.75001	T	-0.63	0.25332	N	0.152	0.27077	-0.9464	0.41582	T	0.237	0.60391	T	10	0.008973688	0.00203	T	0.020926	0.43616	T	0.178	0.44724	.	.	0.564616066205	0.56124	0.6751586347429483	0.67453	0.327479396433	0.34885	0.335840880871	0.15815	T	0.111583	0.42719	T	-0.388673	0.02744	T	-0.332551	0.41185	T	0.0305524798855646	0.02075	T	0.790821	0.43180	T	0.07642097	0.17283	0.05876796	0.10917	0.07642097	0.17283	0.05876796	0.10917	-7.693	0.59306	D	.	.	0.084	0.23675	B	.;.;.	.;.;.	2.137009	0.27209	17.38	0.94369472055884651	0.24733	0.66556	0.33120	D	AEFBI	0.169654	0.29650	N	-0.474581416631902	0.22916	1.226958	-0.423505451736964	0.24309	1.330478	2.28731756203297E-5	0.03498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.71	-2.79	0.05494	0.010000	0.13140	1.786000	0.28758	0.691000	0.84096	0.703000	0.28654	1.000000	0.68203	0.993000	0.69303	0.4966:0.2107:0.1905:0.1022	2.136	0.03532	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	32	chr12	84863448	.	A	C	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.563;DP=620;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.979;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,8:21:99:204,0,344	18	0	1	0
chr12	85056465	85056465	G	A	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1672A:p.G558R	.	451	1063	8	0	0	8	0.00374883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0157574476127	0.0037	0.00259585	0.0038	0.0012	0.0030	0	0.0029	0.0049	0.0045	0.0041	0.0037128	574	154602	rs140862066	0.0046	0.0046	0.0046	0.0045	0.0073	0.0045	0.0044	0.0056	0.0050	0.0011	0.0023	0.0047	2.532e-05	0.0026	0.0073	0.0050	0.0043	0.0043	0.0031	0.0031	0.0034	0.0029	0.0054	0.0029	0.0028	0.0045	0.0044	0.0011	0	0.0019	0.0046	0	0.0010	0.0102	0.0050	0.0047	0.0054	0.167	0.23095	T	0.396	0.15206	T	0.006	0.13644	B	0.004	0.10090	B	0.790304	0.06708	N	1.128570	1	0.08975	N	1.39	0.34934	L	0.56	0.54540	T	-1.42	0.34992	N	0.079	0.05414	-1.0316	0.19937	T	0.080	0.31765	T	10	0.004522085	0.00093	T	0.015757	0.36670	T	0.036	0.09122	0.304	0.27325	0.290962096972	0.28708	0.010660515824942941	0.01027	0.0104999209884	0.00971	0.270921885967	0.06262	T	0.003012	0.02412	T	-0.56824	0.00227	T	-0.587095	0.13918	T	0.000119391157780458	0.00001	T	0.59684	0.22194	T	0.04304109	0.06636	0.09150095	0.21516	0.04304109	0.06636	0.09150095	0.21515	-3.586	0.17654	T	.	.	0.201	0.42491	B	.	.	1.085895	0.14694	11.24	0.7223724886385382	0.09903	0.14144	0.18246	N	AEFBI	0.097823	0.19722	N	-0.946683733613971	0.09768	0.4637223	-0.928572419922514	0.11421	0.5817635	4.50475509423414E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.02	2.77	0.31614	0.727000	0.25667	2.895000	0.35415	-0.169000	0.11342	0.000000	0.06391	0.213000	0.23658	0.051000	0.15275	0.2515:0.0:0.7485:0.0	7.654	0.27532	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.005051	0.008152	0.005848	0.000000	0.008621	0.021472	0.000000	0.02632	1775.33	34	chr12	85056465	.	G	A	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=785;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.198;SOR=0.89	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1156	18	0	1	0
chr12	85056648	85056648	G	A	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1855A:p.E619K	.	446	1064	12	0	0	12	0.00560748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0078	0.00339457	0.0093	0.0023	0.0057	0	0.0132	0.0142	0.0025	0.0010	0.0084346	1304	154602	rs74720621	0.0093	0.0094	0.0093	0.0094	0.0104	0.0092	0.0091	0.0102	0.0102	0.0016	0.0057	0.0140	0	0.0126	0.0069	0.0104	0.0097	0.0010	0.0073	0.0073	0.0077	0.0070	0.0112	0.0070	0.0068	0.0106	0.0103	0.0020	0.0077	0.0048	0.0136	0	0.0112	0	0.0112	0.0109	0.0004	0.019	0.50132	D	0.086	0.40909	T	0.807	0.45251	P	0.294	0.40804	B	0.380378	0.13398	N	0.664291	0.819151	0.28904	N	1.83	0.48079	L	0.62	0.53302	T	-1.71	0.40660	N	0.125	0.11769	-1.0271	0.21396	T	0.062	0.25923	T	10	0.005256653	0.00115	T	.	.	.	0.079	0.23065	.	.	0.499281839539	0.49564	0.04486021890491467	0.04430	0.0130449640453	0.01258	0.399192720652	0.24956	T	0.001626	0.01056	T	-0.539119	0.00339	T	-0.536795	0.18613	T	0.0160685667187989	0.00386	T	0.662034	0.27102	T	0.18785515	0.40258	0.18056984	0.40864	0.18785515	0.40258	0.18056984	0.40863	-4.491	0.30770	T	.	.	0.08	0.07793	B	.	.	3.143670	0.42526	21.6	0.99765514168875691	0.85417	0.93977	0.59744	D	AEFBI	0.204645	0.33106	N	0.0265687284998157	0.43065	2.606883	0.0227215858961721	0.40771	2.43866	0.15760454808273	0.17542	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.32	5.32	0.75377	3.094000	0.49919	5.141000	0.47710	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.049000	0.15107	0.0767:0.0:0.9233:0.0	13.672	0.61911	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.015152	0.009511	0.008824	0.000000	0.008621	0.000000	0.000000	0.02632	1065.33	34	chr12	85056648	.	G	A	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=728;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.426;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1156	18	0	1	0
chr12	85124458	85124458	G	C	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon17:c.G3946C:p.E1316Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	2690720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0190558660063	.	.	8.406e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs760879565	6.705e-05	6.704e-05	6.127e-05	7.29e-05	0.0012	5.63e-05	5.173e-05	0.0006	0.0004	0.0001	4.472e-05	3.826e-05	0	0	0.0012	6.385e-05	0.0002	0	6.568e-05	6.562e-05	5.141e-05	8.059e-05	7.352e-05	3.515e-05	2.615e-05	2.847e-05	1.859e-05	2.407e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0	0.337	0.12837	T	0.339	0.18071	T	0.493	0.37004	P	0.155	0.34417	B	0.103391	0.19749	N	0.467452	1	0.08975	N	1.75	0.45442	L	0.44	0.56609	T	-1.06	0.27669	N	0.294	0.33250	-1.0286	0.20908	T	0.069	0.28180	T	10	0.13269368	0.25254	T	0.019056	0.41318	T	0.078	0.22779	.	.	0.536100336011	0.53261	0.26128802743784973	0.26041	0.0515022165253	0.05672	0.307593286037	0.11544	T	0.010779	0.09696	T	-0.370668	0.03560	T	-0.544514	0.17857	T	0.04774559289217	0.05097	T	0.636336	0.25008	T	0.05740735	0.11421	0.037575323	0.03441	0.05740735	0.11420	0.037575323	0.03440	-4.601	0.32184	T	.	.	0.184	0.39865	B	.	.	1.682381	0.21443	15.20	0.99179109821026523	0.54614	0.06953	0.12979	N	AEFI	0.043780	0.06962	N	-0.588210448005903	0.19302	1.009119	-0.644139849907204	0.18365	0.9807297	3.3390441503799E-6	0.01202	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.33	2.5	0.29355	0.901000	0.28075	1.547000	0.27267	0.618000	0.50648	0.404000	0.26202	0.897000	0.27914	0.004000	0.06068	0.2343:0.2048:0.4266:0.1343	1.499	0.02324	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	33	chr12	85124458	.	G	C	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.839;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1282	18	0	1	0
chr12	85127833	85127833	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon18:c.A4009G:p.M1337V	.	430	1078	14	0	0	14	0.00645161	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0048	0.00319489	0.0045	0.0009	0.0034	0	0.0047	0.0063	0.0011	0.0030	0.0044954	695	154602	rs181317257	0.0059	0.0059	0.0059	0.0058	0.0067	0.0057	0.0057	0.0065	0.0065	0.0009	0.0039	0.0064	0	0.0046	0.0035	0.0067	0.0048	0.0026	0.0043	0.0043	0.0043	0.0044	0.0073	0.0041	0.0040	0.0062	0.0058	0.0011	0.0132	0.0073	0.0066	0	0.0041	0.0102	0.0060	0.0009	0.0027	1.0	0.00964	T	0.211	0.26631	T	0.001	0.07471	B	0.008	0.13708	B	0.737364	0.06407	U	100.696000	1	0.08975	N	0.895	0.22405	L	1.82	0.25018	T	-1.29	0.32387	N	0.169	0.17966	-0.9984	0.30367	T	0.024	0.10284	T	10	0.005805701	0.00130	T	.	.	.	0.039	0.10176	.	.	0.220303561663	0.21668	0.1284494478958176	0.12769	0.0117248453116	0.01102	0.253521382809	0.04148	T	0.002799	0.02196	T	-0.635241	0.00089	T	-0.681531	0.06890	T	0.0061227374846562	0.00068	T	0.510149	0.16261	T	0.07926014	0.18099	0.09185938	0.21618	0.07926014	0.18098	0.09185938	0.21617	-4.5	0.30889	T	.	.	0.123	0.25656	B	.	.	0.872442	0.12455	8.986	0.3053598178810511	0.01675	0.05764	0.11695	N	AEFI	0.073992	0.14818	N	-0.872595871607702	0.11497	0.555169	-0.825335078325972	0.13882	0.7225134	1.65370593309427E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	0.044	0.13543	0.168000	0.16438	0.979000	0.23112	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.3563:0.0:0.2409:0.4028	3.897	0.08648	874	0.30607	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1666.33	34	chr12	85127833	.	A	G	1666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.481;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr12	85137906	85137906	T	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon19:c.T4266G:p.I1422M	.	438	1043	38	2	1	43	0.0197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0074	0.0115815	0.0086	0.0092	0.0039	0.0015	0.0023	0.0077	0.0079	0.0218	0.0081823	1265	154602	rs61740224	0.0081	0.0082	0.0079	0.0084	0.0205	0.0080	0.0080	0.0197	0.0194	0.0120	0.0033	0.0097	0.0009	0.0034	0.0191	0.0075	0.0102	0.0205	0.0078	0.0078	0.0079	0.0078	0.0222	0.0075	0.0073	0.0188	0.0175	0.0106	0	0.0040	0.0049	0.0025	0.0020	0.0034	0.0075	0.0090	0.0222	0.066	0.36113	T	0.004	0.74150	D	0.993	0.65571	D	0.879	0.62418	P	.	.	.	.	0.893066	0.27846	N	0.49	0.13296	N	0.56	0.54540	T	-1.4	0.34596	N	0.201	0.22228	-0.9269	0.44588	T	0.129	0.43807	T	9	0.0058375597	0.00130	T	.	.	.	0.079	0.23065	.	.	0.574056412462	0.57073	0.24462733418689878	0.24376	0.0133742715398	0.01285	0.398845642805	0.24907	T	0.002421	0.01816	T	-0.551364	0.00286	T	-0.548516	0.17468	T	0.0402086683331908	0.03729	T	0.59804	0.22252	T	0.09143171	0.21423	0.15386857	0.36138	0.09143171	0.21423	0.15386857	0.36137	-5.201	0.38952	T	.	.	0.117	0.23814	B	.	.	2.304364	0.29492	18.14	0.93498086442423889	0.23303	0.83457	0.42573	D	AEI	0.204127	0.33059	N	0.21632193234321	0.51991	3.376164	0.224350590449569	0.51203	3.304788	9.71287062153123E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.24	0.36257	1.550000	0.35830	0.857000	0.22192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1238:0.0:0.8762	9.607	0.38806	880	0.29376	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	255.33	44	chr12	85137906	.	T	G	255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=659;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.129;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	18	0	1	0
chr12	88049229	88049230	CT	-	exonic	CEP290	.	frameshift deletion	CEP290:NM_025114:exon54:c.7394_7395del:p.E2465Vfs*2	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	494	1017	11	0	0	11	0.00537897	.	.	.	360055	not_specified|Senior-Loken_syndrome_6|Meckel_syndrome,_type_4|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|Leber_congenital_amaurosis_10|CEP290-related_disorder|not_provided|Meckel-Gruber_syndrome|Joubert_syndrome|Nephronophthisis|Retinal_dystrophy	MedGen:CN169374|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MedGen:CN239314|MedGen:C3661900|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0007	0	0	0	0	0.0002	0.0034	0.0044	0.0005886	91	154602	rs569673313	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	3.024e-05	0.0001	0	0	0	0.0019	6.308e-05	0.0005	0.0043	0.0002	0.0002	6.436e-05	0.0002	0.0031	0.0001	8.73e-05	0.0019	0.0015	2.409e-05	0	6.554e-05	0	0	0	0	8.845e-05	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	835.29	33	chr12	88049228	.	ACT	A	835.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.65;DP=666;ExcessHet=0;FS=6.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.77;ReadPosRankSum=-0.477;SOR=0.221	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,928	18	0	1	0
chr12	88086456	88086456	C	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon33:c.G4237C:p.D1413H	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	102066	Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|not_specified|CEP290-related_disorder|Leber_congenital_amaurosis|Senior-Loken_syndrome_6|Leber_congenital_amaurosis_10|not_provided|Meckel_syndrome,_type_4	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MedGen:CN169374|MedGen:CN239314|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0279965875024	0.0021	0.00179712	0.0035	0.0003	0.0098	0	0.0012	0.0049	0.0065	0.0017	0.0020181	312	154602	rs183655276	0.0026	0.0026	0.0027	0.0026	0.0071	0.0025	0.0025	0.0054	0.0048	0.0004	0.0043	7.741e-05	5.07e-05	0.0006	0.0071	0.0030	0.0029	0.0009	0.0019	0.0019	0.0017	0.0020	0.0044	0.0017	0.0016	0.0036	0.0033	0.0003	0	0.0044	0.0003	0	0.0003	0	0.0027	0.0033	0.0017	0.006	0.72154	D	0.018	0.65728	D	0.098	0.25584	B	0.054	0.25828	B	0.000171	0.48594	D	0.210366	0.945189	0.38661	D	0	0.06538	N	-0.13	0.64818	T	-1.25	0.39119	N	0.338	0.41557	-0.9242	0.44971	T	0.110	0.39699	T	10	0.008776516	0.00199	T	0.027997	0.50737	D	0.130	0.35528	.	.	0.757372437326	0.75516	0.3942687378265777	0.39341	0.0667548177527	0.07447	0.449792325497	0.31915	T	0.256115	0.62699	T	-0.370953	0.03546	T	-0.303291	0.44376	T	0.0264465531716306	0.01466	T	0.928607	0.73726	D	0.15015034	0.34196	0.19005534	0.42388	0.1661555	0.36933	0.17049831	0.39162	-10.915	0.79190	D	0.12590102706994324	0.12611	0.19	0.42259	B	.;.;.	.;.;.	4.047557	0.59975	24.2	0.99057688343672168	0.51413	0.94523	0.61441	D	AEFBHCI	0.656198	0.62827	D	0.0363868836368051	0.43516	2.643088	0.280627705852176	0.54409	3.605986	0.999846063556594	0.43971	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	5.554000	0.66999	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.575	0.99368	876	0.30350	Centrosomal protein of 290kDa, coiled-coil region;.;Centrosomal protein of 290kDa, coiled-coil region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.005848	0.000000	0.000000	0.015244	0.015152	0.02632	2942.33	33	chr12	88086456	.	C	G	2942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=911;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.174;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	18	0	1	0
chr12	88153436	88153436	A	G	exonic	TMTC3	.	nonsynonymous SNV	TMTC3:NM_001366580:exon2:c.A68G:p.K23R,TMTC3:NM_001366574:exon3:c.A155G:p.K52R,TMTC3:NM_181783:exon3:c.A335G:p.K112R	Lissencephaly 8, Autosomal recessive	462	1054	5	1	0	7	0.00330969	.	.	.	738888	TMTC3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0005	0.00878594	0.0045	0	0.0007	0.0487	0.0018	0.0009	0.0044	0.0028	0.0041461	641	154602	rs77028313	0.0022	0.0022	0.0021	0.0023	0.0532	0.0022	0.0021	0.0513	0.0506	5.975e-05	0.0004	0.0018	0.0532	0.0029	0.0017	0.0004	0.0025	0.0031	0.0023	0.0023	0.0019	0.0027	0.0438	0.0021	0.0020	0.0391	0.0373	2.405e-05	0	0.0001	0.0026	0.0438	0.0024	0	0.0008	0.0019	0.0052	1.0	0.02869	T	1.0	0.02701	T	0.0	0.02946	B	0.001	0.04355	B	0.000752	0.42006	N	0.260146	0.999164	0.21555	N	-0.625	0.02162	N	-3.4	0.94260	D	0.33	0.07444	N	0.09	0.06854	-0.8048	0.54861	T	0.092	0.35228	T	10	0.002990514	0.00049	T	.	.	.	0.199	0.48268	.	.	0.705647642926	0.70308	0.3481616343772172	0.34730	0.260024050309	0.28572	0.234944283962	0.02354	T	0.00898	0.08204	T	-0.37434	0.03380	T	-0.270263	0.47792	T	0.00320166601431185	0.00034	T	0.682432	0.31245	T	.	.	.	.	.	.	.	.	-5.031	0.37175	T	.	.	0.070	0.03372	B	.;.	.;.	0.335881	0.07097	3.670	0.35796090864486929	0.02267	0.54256	0.29571	D	AEFBI	0.088983	0.18037	N	-1.30647776433319	0.03600	0.1611141	-1.12257558469173	0.07270	0.3530011	0.119053775493715	0.16837	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.89	-2.3	0.06399	1.378000	0.33935	0.844000	0.22071	-0.105000	0.15698	1.000000	0.71638	0.978000	0.30204	0.980000	0.58198	0.5524:0.0:0.4476:0.0	13.559	0.61237	859	0.33891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1735.33	34	chr12	88153436	.	A	G	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.691;DP=774;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.11;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	91056172	91056172	A	G	exonic	KERA	.	nonsynonymous SNV	KERA:NM_007035:exon2:c.T110C:p.I37T	Cornea plana 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00669953889825	7.7e-05	.	5.809e-05	0	8.823e-05	0	0	7.54e-05	0	6.081e-05	5.17e-05	8	154602	rs377616201	4.934e-05	4.925e-05	4.637e-05	5.235e-05	0.0003	4e-05	3.676e-05	6.111e-05	3.831e-05	9.006e-05	4.491e-05	0	0	0	0.0003	5.313e-05	4.981e-05	3.482e-05	7.273e-05	7.227e-05	7.761e-05	6.764e-05	0.0001	3.995e-05	3.145e-05	5.89e-05	4.274e-05	7.246e-05	0	0	0	0	0	0	0.0001	0	0	0.379	0.11227	T	0.392	0.15406	T	0.001	0.07471	B	0.004	0.10090	B	0.002249	0.00871	N	2.644720	1	0.08975	N	0.895	0.22405	L	2.12	0.19726	T	0.01	0.06868	N	0.107	0.09207	-1.0257	0.21853	T	0.025	0.10509	T	10	0.0758962	0.11788	T	0.007	0.17699	T	0.038	0.09825	.	.	0.218845423259	0.21516	0.42331588442279244	0.42248	0.0158656480664	0.01516	0.298179864883	0.10131	T	0.272371	0.64476	T	-0.447721	0.01165	T	-0.694359	0.06139	T	0.0669884085655212	0.08222	T	0.466753	0.13720	T	0.02772405	0.02005	0.040602017	0.04426	0.02772405	0.02005	0.040602017	0.04426	-3.288	0.13583	T	.	.	0.080	0.07937	B	.	.	-0.103497	0.03622	0.715	0.45464569711019537	0.03570	0.12532	0.17326	N	AEFDI	0.146680	0.27018	N	-1.22446656438951	0.04648	0.2101879	-1.23673957511806	0.05330	0.2537174	0.0799224353236919	0.15831	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.93	-3.61	0.04264	-0.139000	0.10338	0.179000	0.15609	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.239000	0.22975	0.3331:0.0:0.1974:0.4695	5.942	0.18436	915	0.20917	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1970.33	33	chr12	91056172	.	A	G	1970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.716;DP=768;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.933;SOR=0.761	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr12	91158305	91158305	T	A	exonic	DCN	.	nonsynonymous SNV	DCN:NM_001920:exon4:c.A529T:p.I177F,DCN:NM_133503:exon4:c.A529T:p.I177F	Corneal dystrophy, congenital stromal, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	318701	Congenital_stromal_corneal_dystrophy	MONDO:MONDO:0012401,MedGen:C1864738,OMIM:610048,Orphanet:101068	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	0.0434204185267	0.0003	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs201430261	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.238e-05	7.688e-05	0	1.872e-05	0	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0	0	0	0	0.0004	0	0	0.715	0.22224	T	0.262	0.22895	T	0.067	0.23653	B	0.061	0.26820	B	0.000000	0.84330	D	0.045200	1	0.81001	D	2.31	0.66127	M	0.39	0.63738	T	-0.05	0.08653	N	0.777	0.77413	-0.6667	0.61977	T	0.258	0.62912	T	10	0.14546219	0.27592	T	0.04342	0.60972	D	0.162	0.41843	.	.	0.732782589432	0.73040	0.5489588781211946	0.54821	0.38299773621	0.39630	0.646886765957	0.59543	T	0.17615	0.52598	T	-0.121753	0.32837	T	-0.0984084	0.63520	T	0.0801899954761229	0.10012	T	0.944006	0.78847	D	0.14859472	0.33916	0.14975591	0.35346	0.1360819	0.31558	0.17321578	0.39631	-6.843	0.52878	T	.	.	0.337	0.68682	B	.;.;.;.;.	.;.;.;.;.	2.833281	0.37356	20.5	0.97928025065641955	0.36935	0.98327	0.81666	D	AEFBI	0.950544	0.96427	D	0.0979864267428244	0.46368	2.878293	0.206825515358632	0.50225	3.216869	0.946249838312922	0.27697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	4.36	0.51643	5.945000	0.69938	5.074000	0.47205	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1355:0.8645	12.889	0.57455	909	0.22467	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	930.33	37	chr12	91158305	.	T	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=698;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.072;SOR=0.874	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	92853019	92853019	T	C	exonic	EEA1	.	nonsynonymous SNV	EEA1:NM_003566:exon7:c.A413G:p.Q138R	.	557	964	1	0	0	1	0.000518403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0233314048515	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775903964	5.557e-06	6.841e-06	2.765e-06	8.377e-06	0.0004	2.39e-06	1.73e-06	6.341e-05	2.614e-05	0	0	0	0	0	0.0004	9.098e-07	0	6.048e-05	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.6	0.05635	T	0.474	0.12107	T	0.181	0.29111	B	0.022	0.19653	B	0.006942	0.31695	N	0.142489	0.938341	0.37222	D	1.32	0.33002	L	-0.17	0.65563	T	-1.11	0.28703	N	0.163	0.17140	-0.9264	0.44659	T	0.133	0.44583	T	10	0.13805386	0.26258	T	0.023331	0.46285	T	0.053	0.14996	0.136	0.04008	0.54588693629	0.54243	0.09603653653746012	0.09535	0.194954609406	0.21832	0.38447239995	0.22889	T	0.105563	0.41615	T	-0.247324	0.14429	T	-0.377705	0.35991	T	0.353815406560898	0.27168	T	0.746025	0.36642	T	0.11808227	0.27828	0.10792221	0.25989	0.11808227	0.27827	0.10792221	0.25988	-3.552	0.17168	T	.	.	0.084	0.09578	B	.	.	2.362079	0.30299	18.39	0.99137664140389103	0.53437	0.98555	0.84043	D	AEFBI	0.572722	0.57619	D	-0.114385301190926	0.36765	2.129638	0.0875109642909439	0.43917	2.683796	0.997950248011027	0.36237	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.191000	0.64948	4.112000	0.41924	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:0.0:1.0	15.572	0.76083	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	674.33	34	chr12	92853019	.	T	C	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.873;DP=686;ExcessHet=0;FS=3.28;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.422;SOR=1.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	18	0	1	0
chr12	93894103	93894103	A	G	exonic	CRADD	.	nonsynonymous SNV	CRADD:NM_001320100:exon3:c.A352G:p.T118A	Mental retardation, autosomal recessive 34, with variant lissencephaly, Autosomal recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00215843763108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285831677	1.817e-06	1.59e-06	0	3.357e-06	3.155e-06	0	0	.	.	0	0	0	0	0	0	3.155e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.83	0.47815	T	0.88	0.01664	N	0.07	0.04307	-1.0384	0.17802	T	0.060	0.25163	T	8	0.04884252	0.04389	T	0.002158	0.04043	T	0.025	0.05312	0.302	0.27003	0.27064940482	0.26676	.	.	.	.	.	.	.	0.038616	0.24903	T	-0.37798	0.03208	T	-0.745321	0.03671	T	0.0450350987688131	0.04608	T	0.259474	0.04134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02285	B	.	.	-0.902451	0.00922	0.035	0.79461109928471862	0.12752	0.01229	0.04349	N	AEFBI	0.035360	0.04537	N	-1.26619077426735	0.04090	0.1839375	-1.37858084569129	0.03481	0.1624774	0.99576000236443	0.34306	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.39	-2.8	0.05477	-0.525000	0.06302	-0.158000	0.11351	-0.075000	0.16284	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3189:0.2746:0.243:0.1636	0.579	0.00663	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1081.33	65	chr12	93894103	.	A	G	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.476;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.888;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr12	94220064	94220064	A	G	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon6:c.A1603G:p.M535V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0119050405433	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs755955383	8.895e-06	8.893e-06	9.531e-06	8.252e-06	2.988e-05	4.96e-06	3.82e-06	3.81e-06	2.76e-06	2.988e-05	2.236e-05	0	2.519e-05	0	0	8.096e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.525	0.07140	T	0.912	0.02943	T	0.0	0.02946	B	0.0	0.01387	B	0.301801	0.03959	N	1.770890	1	0.08975	N	-0.9	0.01342	N	3.52	0.04905	T	0.01	0.06868	N	0.054	0.02559	-0.9666	0.37894	T	0.004	0.01470	T	10	0.020433128	0.00471	T	0.011905	0.29978	T	0.024	0.04979	0.287	0.24601	0.128874641272	0.12493	0.5261838042554314	0.52542	0.414849778158	0.42153	0.246217906475	0.03379	T	0.031572	0.22103	T	-0.533783	0.00365	T	-0.83539	0.01170	T	0.0237131309308704	0.01109	T	0.482752	0.14626	T	0.039184865	0.05362	0.033928066	0.02369	0.039184865	0.05362	0.033928066	0.02369	-1.891	0.02795	T	.	.	0.062	0.01271	B	.	.	-0.839011	0.01033	0.043	0.34534212050612084	0.02118	0.00199	0.01145	N	AEFBI	0.026335	0.01958	N	-1.82290457741045	0.00491	0.02115142	-1.82013725513398	0.00697	0.0310294	0.982377986072769	0.30390	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.08	-6.56	0.01680	-1.208000	0.03115	-2.885000	0.03263	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.3318:0.2122:0.2413:0.2147	0.310	0.00266	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	34	chr12	94220064	.	A	G	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=716;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.87;SOR=1.035	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	18	0	1	0
chr12	95084577	95084577	C	T	exonic	FGD6	.	nonsynonymous SNV	FGD6:NM_018351:exon20:c.G4177A:p.E1393K	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0005	0.0349441	0.0117	0.0011	0.0005	0.1480	0.0012	0.0004	0.0110	0.0044	0.0112806	1744	154602	rs3794255	0.0044	0.0045	0.0044	0.0043	0.1273	0.0043	0.0042	0.1244	0.1232	0.0005	0.0001	0.0012	0.1273	0.0015	0.0009	0.0003	0.0076	0.0047	0.0059	0.0059	0.0051	0.0066	0.1426	0.0055	0.0054	0.1341	0.1307	0.0010	0.0011	0.0009	0.0006	0.1426	0.0014	0	0.0004	0.0057	0.0089	0.07	0.35349	T	0.138	0.33780	T	0.935	0.52277	P	0.53	0.48544	P	0.041480	0.23946	N	0.299343	0.983439	0.40014	D	0.38	0.12130	N	-0.88	0.74689	T	-1.26	0.31778	N	0.116	0.10483	-1.1320	0.01689	T	0.001	0.00467	T	10	0.0016296506	0.00019	T	.	.	.	0.145	0.38592	.	.	.	.	0.287167519373711	0.28629	0.244780140383	0.26991	0.366926252842	0.20390	T	0.12488	0.45021	T	-0.51493	0.00471	T	-0.394306	0.34049	T	0.0146715048281612	0.00304	T	0.89841	0.64469	D	0.2466377	0.47634	0.13500579	0.32335	0.2466377	0.47634	0.13500579	0.32334	-4.647	0.32756	T	.	.	0.145	0.31857	B	.	.	4.504869	0.70489	25.5	0.99719789378410839	0.81984	0.91435	0.53528	D	AEFBI	0.460758	0.51080	N	0.215922477464393	0.51970	3.374362	0.289568436422292	0.54928	3.656667	0.999986988437101	0.51787	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.678554	0.66404	0	.	.	5.12	4.18	0.48473	4.152000	0.57887	5.003000	0.46611	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.8631:0.1369:0.0	17.197	0.86776	945	0.12563	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	rs3794255	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.000000	0.000000	0.008621	0.009202	0.000000	0.02632	507.33	34	chr12	95084577	.	C	T	507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=671;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.499;SOR=0.917	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1334	18	0	1	0
chr12	95282383	95282386	CCAA	-	exonic	VEZT	.	frameshift deletion	VEZT:NM_001352101:exon6:c.635_638del:p.A212Vfs*21,VEZT:NM_001352105:exon6:c.623_626del:p.A208Vfs*21,VEZT:NM_001352115:exon6:c.635_638del:p.A212Vfs*21,VEZT:NM_001352119:exon6:c.623_626del:p.A208Vfs*21,VEZT:NM_001352090:exon7:c.977_980del:p.A326Vfs*21,VEZT:NM_001352099:exon7:c.665_668del:p.A222Vfs*21,VEZT:NM_001352089:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352091:exon8:c.974_977del:p.A325Vfs*21,VEZT:NM_001352097:exon8:c.845_848del:p.A282Vfs*21,VEZT:NM_001352103:exon8:c.623_626del:p.A208Vfs*21,VEZT:NM_001352107:exon8:c.623_626del:p.A208Vfs*21,VEZT:NM_001352108:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352109:exon8:c.1079_1082del:p.A360Vfs*21,VEZT:NM_001352110:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352111:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352112:exon8:c.974_977del:p.A325Vfs*21,VEZT:NM_001352116:exon8:c.635_638del:p.A212Vfs*21,VEZT:NM_001352117:exon8:c.635_638del:p.A212Vfs*21,VEZT:NM_017599:exon8:c.1067_1070del:p.A356Vfs*21,VEZT:NM_001352088:exon9:c.1136_1139del:p.A379Vfs*21,VEZT:NM_001352092:exon9:c.935_938del:p.A312Vfs*21,VEZT:NM_001352093:exon9:c.935_938del:p.A312Vfs*21,VEZT:NM_001352096:exon9:c.923_926del:p.A308Vfs*21,VEZT:NM_001352100:exon9:c.1124_1127del:p.A375Vfs*21,VEZT:NM_001352102:exon9:c.635_638del:p.A212Vfs*21,VEZT:NM_001352104:exon9:c.623_626del:p.A208Vfs*21,VEZT:NM_001352106:exon9:c.623_626del:p.A208Vfs*21,VEZT:NM_001352113:exon9:c.923_926del:p.A308Vfs*21,VEZT:NM_001352094:exon10:c.923_926del:p.A308Vfs*21,VEZT:NM_001352095:exon10:c.923_926del:p.A308Vfs*21,VEZT:NM_001352118:exon10:c.623_626del:p.A208Vfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	78.29	40	chr12	95282382	.	GCCAA	G	78.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.597;DP=818;ExcessHet=0;FS=56.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.97;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1275:.	18	0	1	0
chr12	95282386	95282386	-	GGGG	exonic	VEZT	.	frameshift insertion	VEZT:NM_001352101:exon6:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352105:exon6:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352115:exon6:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352119:exon6:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352090:exon7:c.980_981insGGGG:p.N327Kfs*21,VEZT:NM_001352099:exon7:c.668_669insGGGG:p.N223Kfs*21,VEZT:NM_001352089:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352091:exon8:c.977_978insGGGG:p.N326Kfs*21,VEZT:NM_001352097:exon8:c.848_849insGGGG:p.N283Kfs*21,VEZT:NM_001352103:exon8:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352107:exon8:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352108:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352109:exon8:c.1082_1083insGGGG:p.N361Kfs*21,VEZT:NM_001352110:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352111:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352112:exon8:c.977_978insGGGG:p.N326Kfs*21,VEZT:NM_001352116:exon8:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352117:exon8:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_017599:exon8:c.1070_1071insGGGG:p.N357Kfs*21,VEZT:NM_001352088:exon9:c.1139_1140insGGGG:p.N380Kfs*21,VEZT:NM_001352092:exon9:c.938_939insGGGG:p.N313Kfs*21,VEZT:NM_001352093:exon9:c.938_939insGGGG:p.N313Kfs*21,VEZT:NM_001352096:exon9:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352100:exon9:c.1127_1128insGGGG:p.N376Kfs*21,VEZT:NM_001352102:exon9:c.638_639insGGGG:p.N213Kfs*21,VEZT:NM_001352104:exon9:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352106:exon9:c.626_627insGGGG:p.N209Kfs*21,VEZT:NM_001352113:exon9:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352094:exon10:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352095:exon10:c.926_927insGGGG:p.N309Kfs*21,VEZT:NM_001352118:exon10:c.626_627insGGGG:p.N209Kfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	81.29	42	chr12	95282386	.	A	AGGGG	81.29	.	AC=1;AF=0.026;AN=38;DP=1115;ExcessHet=0;FS=56.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.73;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1275:.	18	0	1	0
chr12	95869490	95869490	G	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon15:c.C1568A:p.P523Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0659271147563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.03	0.54159	D	1.0	0.90584	D	0.999	0.92359	D	0.000827	0.41547	D	0.228473	0.970247	0.81001	D	2.445	0.70938	M	-0.12	0.64630	T	-4.76	0.80340	D	0.575	0.59732	-0.3001	0.74982	T	0.415	0.76198	T	10	0.6229787	0.68083	D	0.065927	0.69723	D	0.215	0.50805	0.234	0.16305	0.795535167684	0.79363	0.253140739173495	0.25228	0.340208995874	0.35964	0.445860862732	0.31378	T	0.103268	0.41176	T	0.0390394	0.56921	T	-0.181699	0.56365	T	0.996430337429047	0.89338	D	0.762524	0.38803	T	0.33204666	0.55638	0.37677646	0.62793	0.33204666	0.55638	0.37677646	0.62792	-10.945	0.79355	D	.	.	0.298	0.52809	B	.	.	4.875869	0.79927	27.2	0.99458963084374974	0.65684	0.95437	0.64717	D	AEFGBI	0.525973	0.54852	D	0.686088763623987	0.78720	6.928946	0.659524707898929	0.79323	7.057923	0.999999968488959	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	5.18	5.18	0.71140	3.517000	0.53201	11.636000	0.93745	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.417000	0.27162	0.0:0.0:1.0:0.0	15.959	0.79704	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	37	chr12	95869490	.	G	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.012;DP=723;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.221;SOR=0.822	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1395	18	0	1	0
chr12	95995846	95995880	AGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	-	exonic	HAL	.	frameshift deletion	HAL:NM_001258334:exon2:c.31_65del:p.E11Hfs*17,HAL:NM_002108:exon2:c.31_65del:p.E11Hfs*17	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2230.79	122	chr12	95995845	.	GAGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	G	2230.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=785;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.14;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	17	0	2	0
chr12	96297646	96297646	G	A	exonic	CDK17	.	nonsynonymous SNV	CDK17:NM_001170464:exon8:c.C791T:p.T264I,CDK17:NM_002595:exon8:c.C791T:p.T264I	.	464	1057	1	0	0	1	0.000472813	.	.	.	3649396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.0244937232101	.	.	0.0002	0	8.637e-05	0.0002	0	0.0002	0	0.0007	0.0001682	26	154602	rs758304893	0.0001	0.0001	6.762e-05	0.0001	0.0009	8.682e-05	8.145e-05	0.0007	0.0007	3.034e-05	6.872e-05	0	0.0002	1.873e-05	0.0002	4.28e-05	0.0001	0.0009	8.536e-05	8.532e-05	7.71e-05	9.399e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.996e-05	2.407e-05	0	0	0	0.0004	9.429e-05	0	7.352e-05	0.0005	0.0006	0.017	0.53172	D	0.026	0.57104	D	0.918	0.50838	P	0.767	0.56720	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.74	0.18910	N	-0.09	0.64086	T	-5.02	0.82575	D	0.706	0.70966	-0.5128	0.68184	T	0.296	0.66707	T	10	0.4922942	0.61063	T	0.024494	0.47488	T	0.614	0.84932	.	.	0.782191168402	0.78017	0.7302134402927744	0.72966	1.57472306996	0.88263	0.946036458015	0.99653	D	0.20419	0.56289	T	0.026492	0.55254	T	0.193791	0.82782	D	0.267226696014404	0.23628	T	0.958304	0.84304	D	0.5821033	0.71723	0.6062161	0.77106	0.5821033	0.71724	0.6062161	0.77107	-11.18	0.80636	D	.	.	0.592	0.73140	P	.;.;.	.;.;.	5.211558	0.87454	29.2	0.99870081389305465	0.94815	0.99855	0.99850	D	AEFDGBI	0.873031	0.79518	D	0.718014614944717	0.80813	7.378274	0.780329744060039	0.88393	9.565582	0.999999999999698	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.596	0.95533	768	0.49510	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1290.33	34	chr12	96297646	.	G	A	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=780;ExcessHet=0;FS=1.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.491;SOR=0.756	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr12	96533807	96533807	C	T	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon10:c.C1373T:p.A458V,CFAP54:NM_001367885:exon10:c.C1373T:p.A458V	.	452	1069	1	0	0	1	0.000467508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0032930191929	.	0.000399361	0.0029	0	0.0086	0	0	0	0.0063	0.0053	0.0002523	39	154602	rs536361309	0.0002	0.0002	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	3.251e-05	0	0	0	0	0	1.861e-06	0.0002	0.0041	7.227e-05	7.876e-05	3.856e-05	0.0001	0.0023	3.971e-05	3.127e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.464	0.08634	T	0.037	0.51737	D	.	.	.	.	.	.	0.874414	0.07196	N	1.056810	1	0.08975	N	.	.	.	.	.	.	-1.33	0.33197	N	0.134	0.13055	-0.9999	0.29945	T	0.063	0.26029	T	10	0.0047896206	0.00101	T	0.003293	0.07298	T	0.011	0.01250	0.322	0.30226	0.0297737177859	0.01360	0.0404062119153435	0.03986	0.0466183345428	0.05070	.	.	.	0.015873	0.13230	T	-0.553625	0.00277	T	-0.569494	0.15496	T	0.00947546204702073	0.00122	T	0.628437	0.24364	T	0.028896956	0.02298	0.039330557	0.04000	0.028896956	0.02298	0.039330557	0.04000	-3.284	0.13532	T	.	.	0.082	0.08512	B	.	.	1.161103	0.15498	11.90	0.65375454161823721	0.07755	0.02915	0.07720	N	AEFBI	0.037882	0.05277	N	-1.01051102498122	0.08385	0.3929562	-1.04374945077543	0.08837	0.4365128	0.0858566637835767	0.15993	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.1	1.12	0.19700	0.109000	0.15252	-0.446000	0.09129	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.397000	0.26714	0.287:0.5543:0.0:0.1587	5.258	0.14874	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	717.33	30	chr12	96533807	.	C	T	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.787;DP=643;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-1.21;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	18	0	1	0
chr12	96708644	96708644	G	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon48:c.G6565A:p.V2189I,CFAP54:NM_001367885:exon49:c.G6760A:p.V2254I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00241926579601	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs776825093	2.404e-05	2.531e-05	1.365e-05	3.454e-05	0.0003	1.745e-05	1.545e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.501e-06	3.322e-05	0.0003	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	0.878	0.03241	T	.	.	.	.	.	.	0.982293	0.08086	N	0.989193	1	0.08975	N	.	.	.	.	.	.	-0.12	0.08809	N	0.026	0.00527	-1.0227	0.22834	T	0.050	0.21339	T	8	0.04135868	0.02784	T	0.002419	0.04757	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.0422793067099393	0.04172	0.0319156781109	0.03313	.	.	.	0.005303	0.04751	T	-0.551032	0.00288	T	-0.735809	0.04069	T	0.0215328855810977	0.00857	T	0.351565	0.07865	T	0.02191844	0.00821	0.022685353	0.00288	0.02191844	0.00821	0.022685353	0.00288	-3.547	0.17096	T	.	.	0.062	0.01252	B	.	.	-0.534164	0.01760	0.133	0.58887294346493479	0.06096	0.00353	0.01817	N	AEFBI	0.016988	0.00416	N	-1.25413430244994	0.04245	0.1912269	-1.32045418164833	0.04166	0.1959421	1.71390038893948E-4	0.05786	0.651	0.46895	0	0.547309	0.14657	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	5.02	-4.48	0.03267	0.206000	0.17174	0.920000	0.22697	-0.102000	0.15922	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.4647:0.0:0.2719:0.2634	4.147	0.09689	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	828.33	33	chr12	96708644	.	G	A	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.8;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.175;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1106	18	0	1	0
chr12	96786774	96786774	T	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon62:c.T8555A:p.F2852Y,CFAP54:NM_001367885:exon63:c.T8750A:p.F2917Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00901065883127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.235	0.24767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.51	0.15986	N	0.2	0.22098	-0.9249	0.44872	T	0.079	0.31496	T	5	0.11306986	0.21230	T	0.009011	0.23726	T	0.019	0.03383	0.227	0.15257	0.0611884634855	0.05136	0.05004793283965644	0.04947	0.0391274229948	0.04164	.	.	.	0.01239	0.10895	T	-0.297825	0.08866	T	-0.665582	0.07895	T	0.0916585185429961	0.11414	T	0.177582	0.01737	T	0.101305954	0.23930	0.062406413	0.12205	0.101305954	0.23930	0.062406413	0.12205	-3.753	0.20104	T	.	.	0.063	0.01428	B	.	.	0.844538	0.12165	8.712	0.85798846426633624	0.16119	0.02642	0.07243	N	AEBI	0.032582	0.03708	N	-0.58032002096164	0.19543	1.023641	-0.646647212892604	0.18302	0.9770567	0.00393886198522242	0.10346	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.93	-3.89	0.03916	-0.147000	0.10218	0.160000	0.15395	-0.184000	0.09925	0.164000	0.23853	0.010000	0.20010	0.987000	0.62547	0.4228:0.0:0.3451:0.2321	6.532	0.21531	694	0.58444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	34	chr12	96786774	.	T	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=713;ExcessHet=0;FS=1.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.899;SOR=0.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1270	18	0	1	0
chr12	96811767	96811767	C	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon64:c.C8882A:p.P2961H,CFAP54:NM_001367885:exon65:c.C9077A:p.P3026H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0468572394898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.313e-07	2.736e-06	1.444e-06	0	9.337e-07	0	0	.	.	0	0	0	0	0	0	9.337e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.825156	0.28832	N	.	.	.	.	.	.	-3.11	0.63669	D	0.261	0.29544	-0.5755	0.65795	T	0.264	0.63566	T	5	0.16611439	0.31029	T	0.046857	0.62653	D	0.112	0.31546	0.44	0.49484	0.168933306366	0.16529	0.22703069257864905	0.22618	0.0398156233558	0.04256	.	.	.	0.034361	0.23290	T	-0.112462	0.34361	T	-0.399321	0.33463	T	0.925714552402496	0.58759	D	0.518948	0.16858	T	0.13356996	0.31062	0.2065561	0.44875	0.13356996	0.31062	0.2065561	0.44874	-3.794	0.20715	T	.	.	0.224	0.45507	B	.	.	2.944148	0.39155	20.9	0.99297173292247853	0.58505	0.22810	0.21870	N	AEFBCI	0.051710	0.09163	N	-0.13030576273137	0.36077	2.080542	-0.173641637442517	0.32509	1.850258	0.999904925599649	0.45458	0.51972	0.21558	0	0.573888	0.26702	0	0.573888	0.23631	0	0.678554	0.66404	0	.	.	4.82	3.93	0.44666	0.901000	0.28075	3.765000	0.39732	0.599000	0.40250	0.483000	0.26824	0.995000	0.32472	0.008000	0.08271	0.0:0.9005:0.0:0.0995	9.117	0.35925	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1000.33	34	chr12	96811767	.	C	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.444;DP=725;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.754;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr12	96942585	96942585	G	A	exonic	NEDD1	.	nonsynonymous SNV	NEDD1:NM_001135177:exon9:c.G988A:p.V330I,NEDD1:NM_001135175:exon10:c.G1276A:p.V426I,NEDD1:NM_001135176:exon10:c.G1255A:p.V419I,NEDD1:NM_152905:exon11:c.G1255A:p.V419I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00898074028262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.497e-06	1.233e-05	3.01e-06	0	0.0004	2.5e-07	9e-08	6.36e-05	2.621e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.18626	T	0.437	0.13441	T	0.842	0.46562	P	0.169	0.35248	B	0.122253	0.18963	N	0.566392	0.999839	0.20991	N	2.24	0.63355	M	0.82	0.48460	T	-0.43	0.14390	N	0.36	0.44474	-1.0219	0.23096	T	0.123	0.42631	T	10	0.22285861	0.39049	T	0.008981	0.23655	T	0.061	0.17616	0.266	0.21261	0.29527378943	0.29149	0.03242472690592701	0.03190	0.0579350945129	0.06414	0.427621364594	0.28883	T	0.02287	0.17556	T	-0.206991	0.19805	T	-0.535105	0.18779	T	0.328381926886129	0.26160	T	0.578742	0.20864	T	0.061672583	0.12799	0.055092424	0.09600	0.061672583	0.12798	0.055092424	0.09600	-3.787	0.20685	T	.	.	0.070	0.09288	B	.;.;.;.;.	.;.;.;.;.	2.310971	0.29582	18.17	0.90909361226080165	0.20158	0.87335	0.46843	D	AEFBI	0.089212	0.18083	N	-0.0551935346335093	0.39370	2.320662	-0.0382782353894177	0.38001	2.232783	0.375594728910995	0.19911	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	3.72	0.41857	2.064000	0.41059	3.944000	0.40624	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.398:0.602:0.0	15.417	0.74701	569	0.70546	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1163.33	37	chr12	96942585	.	G	A	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=759;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.171;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr12	98516081	98516081	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_001032283:exon1:c.G214A:p.E72K,TMPO:NM_001032284:exon1:c.G214A:p.E72K,TMPO:NM_001307975:exon1:c.G214A:p.E72K,TMPO:NM_003276:exon1:c.G214A:p.E72K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.938901082115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.381e-06	2.736e-06	1.373e-06	1.389e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.53172	D	0.168	0.39799	T	0.984	0.77913	D	0.546	0.59984	P	0.000200	0.48115	D	0.182670	0.997646	0.44063	D	2.34	0.67151	M	0.27	0.72994	T	-1.78	0.45222	N	0.375	0.48227	-0.0969	0.80169	T	0.447	0.78252	T	10	0.544495	0.63906	D	0.938901	0.99565	D	0.147	0.38986	0.284	0.24121	0.724144010556	0.72170	0.18358928958345458	0.18277	0.409170170421	0.41733	0.94465482235	0.99612	D	0.037693	0.63310	T	0.0671522	0.60501	T	-0.141317	0.60004	T	0.986519932746887	0.77213	D	0.949105	0.80662	D	0.31393725	0.54124	0.37855816	0.62931	0.31393725	0.54124	0.37855816	0.62930	-5.913	0.51030	T	.	.	0.758	0.83831	P	.;.;.;.;.	.;.;.;.;.	4.857407	0.79449	27.1	0.99761611570148778	0.85091	0.82215	0.41477	D	AEFDBHCIJ	0.645428	0.62133	D	0.353841799328165	0.58943	4.069792	0.32431216480423	0.56972	3.861531	0.999999998410771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.51	4.51	0.54589	3.410000	0.52417	11.026000	0.85008	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	17.207	0.86802	821	0.40814	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	34	chr12	98516081	.	G	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=694;ExcessHet=0;FS=2.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.15;SOR=0.34	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1380	18	0	1	0
chr12	98699448	98699448	A	C	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon17:c.A2312C:p.N771T,APAF1:NM_013229:exon17:c.A2312C:p.N771T,APAF1:NM_181861:exon17:c.A2345C:p.N782T,APAF1:NM_181868:exon17:c.A2345C:p.N782T	.	431	1044	43	4	0	51	0.0238429	.	.	.	3185078	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0096	0.00539137	0.0100	0.0016	0.0082	0	0.0050	0.0119	0.0210	0.0155	0.0097023	1500	154602	rs117235991	0.0091	0.0091	0.0087	0.0094	0.0186	0.0089	0.0089	0.0157	0.0146	0.0017	0.0084	0.0164	5.04e-05	0.0048	0.0186	0.0091	0.0096	0.0155	0.0079	0.0079	0.0076	0.0081	0.0147	0.0075	0.0073	0.0120	0.0110	0.0020	0.0055	0.0102	0.0210	0	0.0049	0.0170	0.0108	0.0071	0.0147	0.014	0.53172	D	0.068	0.47097	T	0.003	0.47557	B	0.006	0.43945	B	0.000420	0.44736	D	0.281549	0.973598	0.81001	D	1.5	0.37844	L	1.67	0.80214	T	-1.03	0.27052	N	0.473	0.73555	-0.4435	0.70614	T	0.295	0.66631	T	10	0.0077916086	0.00177	T	.	.	.	0.080	0.23350	.	.	0.802638173155	0.80078	0.20224193542745414	0.20141	0.267085592342	0.29244	0.369986623526	0.20830	T	0.291341	0.66410	T	-0.344547	0.05079	T	-0.255371	0.49285	T	0.015130418351858	0.00329	T	0.891811	0.64041	D	0.1604264	0.35983	0.0937898	0.22171	0.1604264	0.35983	0.0937898	0.22171	-8.572	0.64904	D	.	.	0.129	0.31882	B	.;.;.;.;.;.	.;.;.;.;.;.	3.159579	0.42806	21.6	0.99061089815682835	0.51482	0.89020	0.49241	D	AEFBCI	0.517694	0.54370	D	-0.024878610737039	0.40732	2.423947	0.144125068222075	0.46832	2.922784	0.999999999485201	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	4.790000	0.62146	6.894000	0.56850	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.018	0.71258	884	0.28482	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.020202	0.017663	0.011696	0.050000	0.025862	0.027439	0.037879	0.02632	1642.33	34	chr12	98699448	.	A	C	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=749;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.51;SOR=0.882	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	98727282	98727282	G	A	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon25:c.G3404A:p.G1135D,APAF1:NM_181868:exon25:c.G3437A:p.G1146D,APAF1:NM_013229:exon26:c.G3533A:p.G1178D,APAF1:NM_181861:exon26:c.G3566A:p.G1189D	.	.	.	.	.	.	.	.	.	.	.	3562661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0392164994622	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs765405502	1.163e-05	1.163e-05	1.225e-05	1.1e-05	2.319e-05	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	2.319e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.063	0.36709	T	0.551	0.09393	T	0.006	0.31978	B	0.018	0.22909	B	0.002435	0.36574	N	0.347401	1	0.81001	D	2.535	0.73915	M	-0.17	0.65563	T	-2.25	0.50337	N	0.327	0.48872	-0.6351	0.63354	T	0.234	0.60075	T	10	0.18430236	0.33798	T	0.039216	0.58681	D	0.157	0.40909	.	.	0.790118591363	0.78817	0.39469467592252777	0.39384	0.845957717966	0.68299	0.303241878748	0.10886	T	0.271068	0.64337	T	-0.153747	0.27726	T	-0.328172	0.41672	T	0.755026698112488	0.43568	D	0.863014	0.55989	D	0.29807246	0.52731	0.1475759	0.34919	0.29807246	0.52731	0.1475759	0.34918	-7.979	0.60927	D	.	.	0.154	0.46308	B	.;.;.;.;.;.	.;.;.;.;.;.	2.551951	0.33031	19.22	0.95156393557010854	0.26296	0.90867	0.52411	D	AEFBCI	0.196268	0.32325	N	0.038932373083772	0.43635	2.65256	0.13444933163276	0.46322	2.880174	0.992563170258761	0.32885	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.89	0.63387	1.631000	0.36704	5.579000	0.48964	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.964000	0.52637	0.1395:0.1406:0.7199:0.0	7.523	0.26806	878	0.29785	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1020.33	36	chr12	98727282	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.743;DP=714;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.419;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	18	0	1	0
chr12	99244359	99244359	A	G	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352186:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352187:exon14:c.T2402C:p.M801T,ANKS1B:NM_001352188:exon14:c.T2402C:p.M801T,ANKS1B:NM_152788:exon14:c.T2402C:p.M801T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0437079885143	.	.	8.839e-06	0	0	0	0	1.601e-05	0	0	6.5e-06	1	154602	rs764579330	2.749e-06	4.104e-06	2.736e-06	2.763e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.057	0.46406	T	0.016	0.25775	B	0.01	0.31689	B	0.000614	0.42945	D	0.241095	0.993595	0.25386	N	0.69	0.16971	N	1.11	0.58176	T	-1.62	0.38924	N	0.464	0.52651	-0.8738	0.50241	T	0.184	0.53300	T	9	0.1844391	0.33818	T	0.043708	0.61120	D	0.057	0.16321	0.354	0.35408	0.296721761885	0.29290	0.47160456760976127	0.47079	0.0606122278648	0.06739	0.555436193943	0.46623	T	0.139803	0.47401	T	-0.0720804	0.40993	T	-0.341315	0.40196	T	0.179475992918015	0.19201	T	0.665633	0.27494	T	0.28289056	0.51324	0.278901	0.53855	0.28289056	0.51324	0.278901	0.53854	-3.486	0.16237	T	.	.	0.135	0.34094	B	.;.	.;.	2.878783	0.38092	20.7	0.77261841784473417	0.11803	0.97723	0.76668	D	AEFI	0.782533	0.71379	D	0.104342421549757	0.46665	2.903429	0.164385267383127	0.47908	3.014188	0.853413564312821	0.25087	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	4.660000	0.61206	11.104000	0.86182	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.114	0.64669	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	732.33	33	chr12	99244359	.	A	G	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=721;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=1.32;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	18	0	1	0
chr12	99244366	99244366	T	C	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352186:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352187:exon14:c.A2395G:p.K799E,ANKS1B:NM_001352188:exon14:c.A2395G:p.K799E,ANKS1B:NM_152788:exon14:c.A2395G:p.K799E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0131949830786	.	.	1.769e-05	0	0	0	0	0	0.0012	6.557e-05	1.29e-05	2	154602	rs754215967	3.435e-06	4.104e-06	0	6.904e-06	3.523e-05	1.01e-06	7.3e-07	9.36e-06	4.59e-06	0	0	0	0	0	0	9.01e-07	1.663e-05	3.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.04213	T	0.896	0.03706	T	0.0	0.02946	B	0.0	0.01387	B	0.327744	0.14166	N	0.662303	0.999469	0.26017	N	-1.04	0.01097	N	1.19	0.59037	T	0.08	0.06026	N	0.13	0.12484	-1.0829	0.06795	T	0.058	0.24279	T	9	0.036960274	0.02022	T	0.013195	0.32398	T	0.084	0.24469	0.355	0.35571	0.223474106383	0.21959	0.22465220081924986	0.22380	0.0673231261351	0.07525	0.250467061996	0.03818	T	0.089726	0.38434	T	-0.295142	0.09126	T	-0.47896	0.24556	T	0.0181475169914623	0.00536	T	0.680832	0.32403	T	0.051748835	0.09549	0.050354276	0.07886	0.051748835	0.09549	0.050354276	0.07885	-3.182	0.26954	T	.	.	0.053	0.00563	B	.;.	.;.	1.042563	0.14231	10.81	0.53960722043349663	0.05042	0.15166	0.18777	N	AEFI	0.110305	0.21878	N	-0.767882333237026	0.14152	0.7026824	-0.623543011838776	0.18888	1.011067	2.44043330182981E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	-0.246	0.12380	0.883000	0.27838	-0.149000	0.11438	0.665000	0.62972	1.000000	0.71638	0.392000	0.24668	0.989000	0.64315	0.0:0.4849:0.2718:0.2433	5.254	0.14853	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1447.33	33	chr12	99244366	.	T	C	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=772;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.539;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	18	0	1	0
chr12	99806696	99806696	T	C	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon4:c.A377G:p.N126S,ANKS1B:NM_001352186:exon4:c.A377G:p.N126S,ANKS1B:NM_001352187:exon4:c.A377G:p.N126S,ANKS1B:NM_001352188:exon4:c.A377G:p.N126S,ANKS1B:NM_152788:exon4:c.A377G:p.N126S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0003	0.00199681	0.0012	0.0005	0.0117	0	0	3.03e-05	0.0022	0.0003	0.001216	188	154602	rs188120653	0.0004	0.0004	0.0004	0.0003	0.0099	0.0003	0.0003	0.0091	0.0088	6.007e-05	0.0099	0	0	0	0	2.077e-05	0.0005	0.0005	0.0008	0.0008	0.0008	0.0008	0.0069	0.0007	0.0006	0.0058	0.0054	0.0001	0	0.0069	0	0	0	0	2.94e-05	0.0009	0.0008	0.215	0.23541	T	0.136	0.34009	T	0.999	0.77913	D	0.981	0.75168	D	0.000008	0.62929	D	0.064020	1	0.81001	D	0.29	0.10111	N	0.65	0.71307	T	-1.65	0.45949	N	0.226	0.25377	-0.5185	0.67970	T	0.260	0.63088	T	9	0.007766843	0.00176	T	.	.	.	0.159	0.41286	.	.	0.696484617506	0.69386	0.26629261415629846	0.26542	1.28143259134	0.82544	0.692419052124	0.66053	T	0.095862	0.39708	T	-0.470304	0.00846	T	-0.437947	0.29039	T	0.0303365135036962	0.02041	T	0.919408	0.77964	D	0.13369742	0.31088	0.1693014	0.38954	0.13369742	0.31088	0.1693014	0.38954	-7.19	0.55409	T	.	.	0.116	0.28607	B	.;.;.	.;.;.	4.420966	0.68469	25.2	0.99780256522113575	0.86693	0.95993	0.67050	D	AEFBI	0.841137	0.75836	D	0.392522492178628	0.61017	4.297281	0.458002919317554	0.65231	4.797898	0.0577285957173102	0.15102	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	6.133000	0.71426	6.197000	0.54843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.221	0.73004	905	0.23532	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	35	chr12	99806696	.	T	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=694;ExcessHet=0;FS=2.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.04;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	100037647	100037647	T	C	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon21:c.A4384G:p.T1462A	.	.	.	.	.	.	.	.	.	.	.	3291112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00435868917151	0.0002	.	0.0003	9.647e-05	0	0	0	0.0004	0.0011	0.0005	0.0002781	43	154602	rs144439125	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0015	0	0.0002	0.0008	0	0	0.0030	0.0002	0.0004	0.0005	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	4.824e-05	0	0.0001	0.0020	0	0	0	0.0002	0.0005	0.0002	0.365	0.14743	T	0.328	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.243968	0.15651	N	0.644376	0.999993	0.08975	N	1.355	0.33814	L	2.99	0.09262	T	-0.97	0.28906	N	0.041	0.03956	-0.9938	0.31617	T	0.014	0.05753	T	10	0.015911102	0.00334	T	0.004359	0.10624	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.11958438577316632	0.11885	0.114344148871	0.12892	0.367884039879	0.20527	T	0.001663	0.15779	T	-0.56788	0.00228	T	-0.699463	0.05855	T	0.00941299675094403	0.00121	T	0.661834	0.27067	T	0.067395814	0.14591	0.043780204	0.05526	0.067395814	0.14591	0.043780204	0.05525	-4.128	0.25701	T	.	.	0.069	0.04806	B	.;.	.;.	1.353259	0.17613	13.27	0.74831218863303828	0.10843	0.39113	0.26140	N	AEFBI	0.084812	0.17191	N	-0.62329975053083	0.18246	0.9457326	-0.50879685959633	0.21913	1.187738	0.00291953011120681	0.09795	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.076	0.13714	0.671000	0.24853	-0.388000	0.09495	0.665000	0.62972	0.969000	0.34210	0.347000	0.24452	0.902000	0.43815	0.0:0.2394:0.2597:0.5009	5.889	0.18143	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004032	0.000000	0.002717	0.011696	0.000000	0.000000	0.006098	0.000000	0.02632	1149.33	33	chr12	100037647	.	T	C	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=691;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.149;SOR=0.65	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1189	18	0	1	0
chr12	100058786	100058786	G	T	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon14:c.C2491A:p.H831N	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0012	0.0123802	0.0159	0.0021	0.1615	0	0	0.0004	0.0144	0.0004	0.0147475	2280	154602	rs146949195	0.0046	0.0046	0.0054	0.0038	0.1344	0.0045	0.0045	0.1316	0.1304	0.0011	0.1344	0	5.039e-05	0	0	0.0003	0.0039	0.0006	0.0078	0.0078	0.0070	0.0086	0.0679	0.0074	0.0072	0.0644	0.0631	0.0020	0	0.0679	0	0.0002	0	0	0.0005	0.0104	0.0008	0.054	0.38633	T	0.087	0.40747	T	0.456	0.36269	P	0.119	0.32162	B	0.000000	0.84330	D	0.054894	0.999993	0.58761	D	2.08	0.57402	M	2.31	0.16794	T	-0.46	0.15782	N	0.215	0.24010	-1.1689	0.00561	T	0.003	0.00832	T	10	0.0017614365	0.00023	T	.	.	.	0.181	0.45247	.	.	.	.	0.39869096126860754	0.39784	0.245609034778	0.27083	0.552516281605	0.46213	T	0.004886	0.15408	T	-0.529406	0.00387	T	-0.403411	0.32988	T	0.0297467150582476	0.01950	T	0.859714	0.58780	D	0.28582862	0.51602	0.2505067	0.50643	0.28582862	0.51602	0.2505067	0.50642	-4.369	0.29133	T	.	.	0.132	0.39915	B	.;.	.;.	3.245051	0.44309	21.9	0.9468364988475958	0.25320	0.73831	0.36113	D	ALL	0.667032	0.63529	D	0.257039297807366	0.53987	3.565598	0.354904415167119	0.58802	4.05328	1.0	0.98316	0.758104	0.99027	0	0.691618	0.66802	0	0.696353	0.63694	0	0.616919	0.45865	0	.	.	6.02	6.02	0.97559	3.481000	0.52943	9.981000	0.82923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	20.537	0.99242	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	143	chr12	100058786	.	G	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.689;DP=882;ExcessHet=0;FS=2.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.278;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	18	0	1	0
chr12	100624061	100624061	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1256T:p.P419L,GAS2L3:NM_001303131:exon10:c.C944T:p.P315L,GAS2L3:NM_001363672:exon10:c.C1256T:p.P419L,GAS2L3:NM_174942:exon10:c.C1256T:p.P419L	.	432	1085	3	2	0	7	0.00321543	.	.	.	702055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0052	0.00339457	0.0071	0.0010	0.0034	0	0.0076	0.0102	0.0110	0.0047	0.0070633	1092	154602	rs148236676	0.0087	0.0087	0.0088	0.0086	0.0100	0.0086	0.0086	0.0098	0.0098	0.0012	0.0038	0.0002	2.519e-05	0.0078	0.0038	0.0100	0.0082	0.0059	0.0060	0.0060	0.0065	0.0054	0.0096	0.0056	0.0055	0.0090	0.0088	0.0019	0.0088	0.0055	0	0	0.0058	0	0.0096	0.0038	0.0035	0.25	0.17126	T	0.065	0.44702	T	0.002	0.09854	B	0.003	0.08700	B	0.033227	0.24925	N	0.368200	0.667511	0.33111	D	1.78	0.46185	L	1.86	0.25018	T	-0.84	0.31778	N	0.035	0.01004	-1.0566	0.12621	T	0.039	0.16634	T	10	0.0062997937	0.00142	T	.	.	.	0.036	0.09122	.	.	0.478605750892	0.47488	0.2569729977280823	0.25611	0.0827717026036	0.09339	0.266068667173	0.05635	T	0.013961	0.16921	T	-0.608905	0.00129	T	-0.638032	0.09813	T	0.00624438420586925	0.00069	T	0.661134	0.27033	T	0.018380845	0.00359	0.025030047	0.00535	0.018380845	0.00359	0.025030047	0.00535	-4.412	0.29719	T	.	.	0.069	0.07130	B	.;.;.;.	.;.;.;.	0.778835	0.11490	8.091	0.32139446252095555	0.01847	0.39156	0.26149	N	AEFBI	0.162557	0.28874	N	-0.652270611460934	0.17394	0.8947002	-0.662431228885488	0.17903	0.9540487	0.00355143553771963	0.10174	0.706548	0.73137	0	0.588066	0.40923	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.95	4.06	0.46572	2.083000	0.41239	1.774000	0.28659	-0.242000	0.07441	0.006000	0.17386	0.004000	0.18990	0.016000	0.10718	0.0:0.7873:0.1365:0.0761	10.206	0.42292	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2301.33	140	chr12	100624061	.	C	T	2301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=1979;ExcessHet=0;FS=4.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.216;SOR=0.764	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	100624283	100624283	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1478T:p.S493L,GAS2L3:NM_001303131:exon10:c.C1166T:p.S389L,GAS2L3:NM_001363672:exon10:c.C1478T:p.S493L,GAS2L3:NM_174942:exon10:c.C1478T:p.S493L	.	426	1080	15	1	0	17	0.00780891	.	.	.	713272	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	0.00374783651964	0.0043	0.00339457	0.0039	0.0010	0.0040	0	0.0024	0.0057	0.0033	0.0010	0.0041591	643	154602	rs61748063	0.0059	0.0059	0.0060	0.0058	0.0075	0.0058	0.0057	0.0065	0.0065	0.0013	0.0046	0.0092	0	0.0027	0.0075	0.0067	0.0066	0.0013	0.0045	0.0045	0.0051	0.0039	0.0079	0.0042	0.0041	0.0067	0.0063	0.0013	0.0011	0.0079	0.0112	0	0.0019	0.0068	0.0064	0.0062	0.0012	0.541	0.15613	T	0.593	0.08134	T	0.0	0.02946	B	0.0	0.01387	B	0.843066	0.07011	N	1.089570	1	0.08975	N	-1.01	0.01154	N	1.96	0.22678	T	0.39	0.07155	N	0.06	0.12770	-0.9704	0.37115	T	0.016	0.06473	T	10	0.0038915277	0.00074	T	0.003748	0.08713	T	0.018	0.03083	.	.	0.219573609325	0.21563	0.08916671828509418	0.08849	0.0715815216032	0.08012	0.212297424674	0.00913	T	0.013642	0.11764	T	-0.69	0.00042	T	-0.760188	0.03106	T	0.00283003722439262	0.00030	T	0.717128	0.32987	T	0.014336241	0.00089	0.025066564	0.00539	0.014336241	0.00089	0.025066564	0.00539	-4.602	0.32197	T	.	.	0.061	0.03231	B	.;.;.;.	.;.;.;.	0.565284	0.09340	6.119	0.33252556876305561	0.01971	0.00548	0.02514	N	AEFBI	0.033401	0.03954	N	-1.4518663181374	0.02202	0.09697183	-1.4026674150666	0.03225	0.1500141	9.3170636418722E-5	0.04910	0.706548	0.73137	0	0.588066	0.40923	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.93	-0.166	0.12697	-0.613000	0.05705	-0.506000	0.08774	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.358000	0.25841	0.0:0.4908:0.0:0.5092	10.899	0.46252	594	0.68584	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.012228	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	2219.33	130	chr12	100624283	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.66;DP=1263;ExcessHet=0;FS=4.438;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.107;SOR=0.62	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr12	101209577	101209577	G	A	exonic	SLC5A8	.	nonsynonymous SNV	SLC5A8:NM_145913:exon1:c.C272T:p.T91I	.	.	.	.	.	.	.	.	.	.	.	3480962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.112449576952	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs755904407	7.456e-05	7.456e-05	4.356e-05	0.0001	0.0012	6.315e-05	5.873e-05	0.0010	0.0009	0	0	0	0	0	0	0	0.0001	0.0012	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.024	0.47745	D	0.023	0.57104	D	0.374	0.34192	B	0.367	0.43430	B	0.000218	0.47681	D	0.248762	0.998566	0.45092	D	2.085	0.57729	M	-2.21	0.86963	D	-2.57	0.55501	D	0.486	0.52029	0.182	0.85614	D	0.602	0.85855	D	10	0.18892643	0.34469	T	0.11245	0.79059	D	0.628	0.85666	0.611	0.74418	0.518312163451	0.51475	0.8082219024832838	0.80777	0.23568411113	0.26102	0.466487586498	0.34199	T	0.32993	0.70018	T	-0.186555	0.22765	T	-0.0970982	0.63622	T	0.939805686473846	0.61158	D	.	.	.	0.37236264	0.58759	0.34509358	0.60198	0.37236264	0.58760	0.34509358	0.60197	-8.126	0.61926	D	.	.	0.727	0.74067	P	.	.	3.616874	0.51161	23.1	0.99825916319549124	0.90852	0.95237	0.63947	D	AEFBCI	0.924444	0.90249	D	0.218367195526008	0.52090	3.385439	0.316783476353611	0.56527	3.816012	0.999999734198407	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.49	4.58	0.56077	8.002000	0.88029	8.465000	0.77256	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.1336:0.8664:0.0	16.186	0.81764	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	33	chr12	101209577	.	G	A	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-1.514;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1164	18	0	1	0
chr12	101327151	101327151	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon26:c.A3112G:p.M1038V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0077483689717	.	.	1.648e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs748156914	5.476e-06	5.472e-06	5.447e-06	5.505e-06	8.947e-05	2.36e-06	1.7e-06	2.985e-05	1.805e-05	0	8.947e-05	0	0	3.745e-05	0	1.8e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	9.413e-05	0	0	0	0	0.222	0.18823	T	0.138	0.33780	T	0.109	0.26142	B	0.122	0.32387	B	0.000226	0.47286	D	0.252582	0.933866	0.37068	D	1.95	0.52479	M	2.31	0.16794	T	-1.8	0.42384	N	0.675	0.68255	-1.0690	0.09634	T	0.051	0.21767	T	10	0.6365974	0.68817	D	0.007748	0.20563	T	0.132	0.35948	0.623	0.75803	0.429780353351	0.42593	0.3718597669120215	0.37099	0.161675508535	0.18244	0.506577014923	0.39744	T	0.020009	0.15833	T	-0.282735	0.10380	T	-0.418204	0.31281	T	0.428232908248901	0.29995	T	0.856214	0.54490	D	0.13894741	0.32115	0.18378305	0.41390	0.13894741	0.32115	0.18378305	0.41389	-6.842	0.52871	T	.	.	0.116	0.23535	B	.	.	1.884308	0.23932	16.21	0.9707584417720525	0.32260	0.94716	0.62084	D	AEFDBI	0.517683	0.54370	D	0.00633171742368679	0.42144	2.533677	0.136015179800136	0.46405	2.887047	0.822190713859782	0.24544	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	4.411000	0.59536	9.208000	0.79221	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	1.0:0.0:0.0:0.0	15.042	0.71459	823	0.40596	Down-regulated-in-metastasis protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1201.33	37	chr12	101327151	.	A	G	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.42;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.603;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr12	101355074	101355074	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon41:c.A5350G:p.T1784A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.00199681	0.0013	0	8.666e-05	0	0	4.541e-05	0.0044	0.0089	0.0010802	167	154602	rs202007555	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	2.236e-05	0	0	1.872e-05	0.0003	4.407e-05	0.0004	0.0080	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0056	0.218	0.19090	T	0.069	0.43913	T	0.209	0.29944	B	0.03	0.21741	B	0.000192	0.48115	D	0.213139	0.989883	0.41043	D	1.61	0.41143	L	2.27	0.17431	T	-1.01	0.26639	N	0.462	0.49874	-1.0908	0.05400	T	0.041	0.17785	T	10	0.00807789	0.00183	T	.	.	.	0.115	0.32236	0.514	0.61307	0.352910780287	0.34901	0.13511141992502884	0.13435	0.117181232826	0.13205	0.514178693295	0.40808	T	0.011606	0.10331	T	-0.473194	0.00812	T	-0.446089	0.28129	T	0.0293114062125024	0.01885	T	0.709529	0.32034	T	0.05748669	0.11447	0.07376759	0.16066	0.05748669	0.11446	0.07376759	0.16066	-6.344	0.49071	T	.	.	0.091	0.13127	B	.	.	2.530047	0.32712	19.12	0.97837945403431104	0.36305	0.91561	0.53787	D	AEFBI	0.336662	0.43471	N	-0.0772866656637128	0.38391	2.247741	0.0573131547523606	0.42425	2.565948	0.953184110105393	0.28059	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.701000	0.61496	9.296000	0.79833	0.756000	0.94297	0.867000	0.30739	1.000000	0.68203	0.879000	0.42020	1.0:0.0:0.0:0.0	14.088	0.64494	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	780.33	39	chr12	101355074	.	A	G	780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=691;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.329;SOR=0.342	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	101720150	101720150	A	T	exonic	CHPT1	.	nonsynonymous SNV	CHPT1:NM_020244:exon5:c.A676T:p.I226F	.	447	1070	5	0	0	5	0.002331	.	.	.	3297211	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00246770522269	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	6.066e-05	0	0.0009	0.0001423	22	154602	rs144773874	8.058e-05	8.278e-05	4.149e-05	0.0001	0.0009	6.837e-05	6.363e-05	0.0007	0.0007	0	9.658e-05	0	2.537e-05	0	0.0004	2.275e-05	0.0002	0.0009	2.63e-05	2.625e-05	2.573e-05	2.689e-05	0.0004	8.15e-06	5.14e-06	7.341e-05	3.048e-05	0	0	6.55e-05	0	0	0	0	1.471e-05	0	0.0004	0.571	0.07071	T	0.493	0.11443	T	0.004	0.17332	B	0.003	0.18783	B	0.012140	0.29280	N	0.405345	0.804499	0.34555	D	1.15	0.29295	L	0.93	0.44461	T	-0.1	0.08495	N	0.182	0.19728	-1.0407	0.17101	T	0.068	0.27879	T	10	0.017530441	0.00375	T	0.002468	0.04896	T	0.059	0.16972	.	.	0.560190409015	0.55679	0.6866850732149441	0.68608	0.447342404213	0.44593	0.473816335201	0.35206	T	0.009741	0.08845	T	-0.487369	0.00672	T	-0.523289	0.19962	T	0.0747826548015904	0.09306	T	0.724128	0.33779	T	0.05235814	0.09755	0.054374184	0.09340	0.05235814	0.09754	0.054374184	0.09340	-5.936	0.45741	T	.	.	0.080	0.07602	B	.;.	.;.	2.436972	0.31360	18.72	0.93408798050935649	0.23170	0.90890	0.52455	D	AEFGBI	0.768510	0.70405	D	-0.283465755106964	0.29787	1.654981	-0.121052407953325	0.34543	1.988129	0.0320169569763441	0.14033	0.706298	0.61202	0	0.659464	0.62310	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.41	3.08	0.34576	3.983000	0.56625	6.139000	0.54026	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7075:0.0:0.1513:0.1412	5.268	0.14924	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	33	chr12	101720150	.	A	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.418;DP=704;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.69;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1023	18	0	1	0
chr12	101737877	101737877	T	C	exonic	SYCP3	.	nonsynonymous SNV	SYCP3:NM_001177948:exon2:c.A59G:p.Q20R,SYCP3:NM_001177949:exon2:c.A59G:p.Q20R,SYCP3:NM_153694:exon2:c.A59G:p.Q20R	Pregnancy loss, recurrent, 4, Autosomal dominant;Spermatogenic failure 4, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	869054	Spermatogenic_failure_4	MONDO:MONDO:0010052,MedGen:C0232981,OMIM:270960	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	0.00584070470239	0.0004	0.000599042	0.0008	0.0003	0	0	0	0.0005	0	0.0036	0.000718	111	154602	rs143228358	0.0006	0.0006	0.0005	0.0008	0.0042	0.0006	0.0006	0.0038	0.0037	5.974e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0008	0.0042	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0002	0.0027	0.0023	2.405e-05	0	6.535e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0041	0.824	0.02928	T	0.43	0.13713	T	0.002	0.09854	B	0.002	0.06944	B	0.345971	0.13890	N	0.694656	0.999111	0.21609	N	1.95	0.52479	M	.	.	.	-0.69	0.19720	N	0.361	0.41853	-0.9708	0.37030	T	0.146	0.46967	T	9	0.005790025	0.00129	T	0.005841	0.15191	T	0.085	0.24743	.	.	0.132336055621	0.12781	0.09953994278906358	0.09884	0.281062327463	0.30577	0.263465881348	0.05310	T	0.11399	0.43146	T	-0.394535	0.02514	T	-0.340654	0.40269	T	0.0133992460828032	0.00243	T	0.390461	0.09684	T	0.04984325	0.08912	0.059598148	0.11213	0.053708326	0.10204	0.057938606	0.10621	-3.246	0.13051	T	.	.	0.074	0.04975	B	.;.;.	.;.;.	1.195877	0.15877	12.16	0.91376685326588247	0.20641	0.68804	0.33941	D	AEFDBI	0.080722	0.16326	N	-0.215903476048163	0.32481	1.832244	-0.13961489558119	0.33809	1.938006	0.0711789056584624	0.15557	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.01	5.01	0.66477	2.308000	0.43350	0.423000	0.18241	-0.157000	0.11712	0.986000	0.36153	0.251000	0.23919	0.006000	0.07323	0.0:0.0:0.151:0.849	11.421	0.49228	465	0.78421	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1053.33	35	chr12	101737877	.	T	C	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=730;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.17;SOR=0.569	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1261	18	0	1	0
chr12	101764660	101764660	T	A	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon13:c.A2257T:p.I753L	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1880310	Pseudo-Hurler_polydystrophy|Mucolipidosis_type_II|Inborn_genetic_diseases	MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0424221710048	.	.	8.265e-06	0	0	0	0	0	0	6.086e-05	2.59e-05	4	154602	rs781633355	1.095e-05	1.163e-05	8.174e-06	1.376e-05	0.0003	6.49e-06	5.25e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	0	4.972e-05	2.327e-05	6.569e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.706	0.04094	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.075390	0.02296	N	1.798850	1	0.08975	N	0.49	0.13296	N	-3.84	0.95826	D	-0.01	0.07155	N	0.185	0.20129	-0.3301	0.74130	T	0.564	0.84170	D	10	0.07096872	0.10398	T	0.042422	0.60457	D	0.306	0.62729	0.456	0.52102	0.356072328145	0.35220	0.2739993257150685	0.27312	0.217568787916	0.24277	0.223526865244	0.01523	T	0.085199	0.37449	T	-0.119444	0.33216	T	-0.308719	0.43797	T	0.0415830576048497	0.03978	T	0.292171	0.05356	T	0.03538459	0.04153	0.02558262	0.00609	0.03538459	0.04153	0.02558262	0.00608	-3.057	0.10809	T	0.0997698095423862	0.07284	0.067	0.02399	B	.	.	-1.484387	0.00304	0.005	0.73144559137412846	0.10222	0.05718	0.11642	N	AEFDGBI	0.102924	0.20634	N	-1.9250950656503	0.00305	0.01308793	-2.01553603369058	0.00284	0.01253334	0.999999999999999	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.7	-11.4	0.00070	-4.326000	0.00288	-3.163000	0.03007	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.454000	0.27984	0.0688:0.5203:0.2503:0.1606	9.487	0.38100	470	0.78111	DMAP1-binding domain|DMAP1-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2923.33	34	chr12	101764660	.	T	A	2923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=866;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.658;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	18	0	1	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1797.33	34	chr12	101766270	.	A	G	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=763;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.28;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr12	102118370	102118370	G	A	exonic	NUP37	.	nonsynonymous SNV	NUP37:NM_024057:exon2:c.C149T:p.T50M	.	428	1090	4	0	0	4	0.0018315	.	.	.	3352429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00855193589212	7.7e-05	.	0.0002	0	8.649e-05	0.0001	0	0.0002	0	0.0007	0.0001682	26	154602	rs149986411	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	2.99e-05	6.743e-05	7.677e-05	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	8.174e-05	6.729e-05	0.0001	8.88e-05	0	0	0.0002	0.0003	0	0	0.0034	0.0002	0.0005	0	0.093	0.31532	T	0.076	0.42614	T	0.01	0.15535	B	0.004	0.10090	B	0.000248	0.46924	N	0.206043	0.928736	0.27113	N	0.805	0.20218	L	1.54	0.30133	T	-0.7	0.44094	N	0.205	0.22870	-1.0536	0.13413	T	0.044	0.18906	T	10	0.067644656	0.09455	T	0.008552	0.22606	T	0.205	0.49236	.	.	0.527759996296	0.52422	0.3988646553262932	0.39801	0.181943307188	0.20455	0.337405025959	0.16049	T	0.058804	0.30942	T	-0.338789	0.05472	T	-0.394422	0.34034	T	0.0307935220183589	0.02113	T	0.845515	0.54045	T	0.015198117	0.00127	0.029571688	0.01309	0.015198117	0.00127	0.029571688	0.01309	-4.488	0.30731	T	.	.	0.077	0.11797	B	.;.;.;.	.;.;.;.	2.636129	0.34287	19.59	0.95381200897734331	0.26806	0.69480	0.34204	D	AEFGBCI	0.135359	0.25567	N	-0.427205060376313	0.24520	1.324501	-0.257154858140763	0.29525	1.654876	0.999967291965061	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	2.55	0.29757	2.038000	0.40805	4.445000	0.43400	-0.106000	0.15538	0.986000	0.36153	1.000000	0.68203	0.834000	0.39329	0.1704:0.2886:0.541:0.0	7.130	0.24675	509	0.75304	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1184.33	36	chr12	102118370	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=810;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.053;SOR=0.619	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1297	18	0	1	0
chr12	102851701	102851701	C	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon8:c.G898T:p.A300S,PAH:NM_001354304:exon9:c.G898T:p.A300S	Phenylketonuria, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	98658	Hyperphenylalaninemia|Inborn_genetic_diseases|Phenylketonuria|not_provided	Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MedGen:C3661900	reviewed_by_expert_panel	Pathogenic	.	.	.	.	.	.	.	.	0.944	0.687775527069	0.0003	.	0.0004	0	0.0002	0	0	0.0007	0	0.0002	0.0003881	60	154602	rs5030853	0.0004	0.0004	0.0003	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	0	0.0001	0.0075	0	1.872e-05	0.0024	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	2.415e-05	0	0.0003	0.0066	0	0	0	0.0003	0.0010	0	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047013	1	0.81001	D	3.545	0.93219	H	-7.0	0.99828	D	-2.92	0.61129	D	0.896	0.92550	0.955	0.96476	D	0.994	0.99870	D	10	0.21077383	0.37483	T	0.687776	0.97424	D	0.944	0.98851	.	.	0.992341481691	0.99226	0.951340187434245	0.95118	0.234505343878	0.25988	0.798704922199	0.81765	T	0.983663	0.99885	D	0.337868	0.85691	D	0.579612	0.96534	D	0.171648024188298	0.18692	T	0.968603	0.88631	D	0.86760205	0.88672	0.82752347	0.90024	0.9164324	0.92903	0.86179686	0.92302	-7.608	0.58367	D	0.4634754317247824	0.54524	0.244	0.47827	B	.;.	.;.	5.106050	0.85342	28.6	0.99693122948966317	0.80112	0.97585	0.75717	D	AEFBCI	0.973973	0.99529	D	1.00247571485204	0.95820	13.99934	0.93434704324232	0.96902	15.30441	0.999999999971142	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.568000	0.81546	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.779	0.96406	514	0.74853	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	712.33	35	chr12	102851701	.	C	A	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.304;DP=694;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.32;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	18	0	1	0
chr12	102855154	102855154	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.G688A:p.V230I,PAH:NM_001354304:exon7:c.G688A:p.V230I	Phenylketonuria, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	YES	108520	not_provided|Phenylketonuria|PAH-related_disorder	MedGen:C3661900|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|.	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.512	0.242250572168	0.0002	.	0.0004	0	0.0003	0	0.0002	0.0003	0	0.0016	0.0003622	56	154602	rs62516152	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0004	0.0028	0.0001	0.0008	0.0023	0.0001	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	9.627e-05	0	0.0006	0.0009	0.0004	0.0007	0	0.0003	0.0019	0.0004	0.238	0.18122	T	0.365	0.16717	T	0.09	0.25173	B	0.022	0.19653	B	0.000001	0.62929	D	0.055923	1	0.81001	D	0.185	0.09099	N	-6.21	0.99572	D	-0.16	0.09460	N	0.373	0.41557	1.062	0.98388	D	0.920	0.97352	D	10	0.07067916	0.10316	T	0.242251	0.88752	D	0.512	0.79094	.	.	0.864028493511	0.86271	0.835844573274614	0.83544	0.0310148387879	0.03212	0.536185860634	0.43907	T	0.652911	0.89490	D	-0.0544566	0.43768	T	0.124373	0.78523	D	0.0279868235073283	0.01686	T	0.972903	0.90223	D	0.39920378	0.60677	0.1110115	0.26774	0.33593777	0.55954	0.11763171	0.28396	-4.024	0.24162	T	0.10387130477089043	0.08062	0.087	0.11366	B	.;.	.;.	2.527821	0.32673	19.11	0.98006251691503832	0.37521	0.88312	0.48183	D	AEFBI	0.789594	0.71873	D	-0.174495440160012	0.34200	1.949154	-0.0124763124035698	0.39149	2.316974	0.849897142339245	0.25024	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	1.651000	0.36918	6.016000	0.52721	0.599000	0.40250	0.834000	0.30193	1.000000	0.68203	0.720000	0.34772	0.0:0.9278:0.0:0.0722	14.538	0.67561	528	0.73785	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	959.33	40	chr12	102855154	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=769;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=2.24;SOR=0.563	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	102894758	102894758	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon3:c.C329T:p.S110L,PAH:NM_001354304:exon4:c.C329T:p.S110L	Phenylketonuria, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	108387	Phenylketonuria|not_provided|not_specified	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MedGen:C3661900|MedGen:CN169374	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.717	0.74157850218	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199475627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.78490	T	0.303	0.41573	T	0.995	0.67487	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	-5.82	0.99477	D	-2.97	0.64593	D	0.865	0.88798	1.097	0.99552	D	0.971	0.99091	D	10	0.8775118	0.87048	D	0.741579	0.97931	D	0.717	0.89966	0.739	0.87147	0.989255783203	0.98913	0.9366112122716002	0.93641	0.174382207677	0.19638	0.597045183182	0.52487	T	0.803764	0.95024	D	0.493634	0.94099	D	0.471295	0.94022	D	0.996010303497314	0.88504	D	0.947705	0.86792	D	0.6860279	0.77295	0.50490415	0.71383	0.7234998	0.79358	0.5213047	0.72344	-9.733	0.72297	D	0.11906291077299093	0.11051	0.220	0.66643	B	.;.;.;.	.;.;.;.	4.780102	0.77470	26.7	0.99921596244950794	0.98787	0.98887	0.88185	D	AEFBI	0.976166	0.99659	D	0.751359590905784	0.82994	7.902188	0.811781671974156	0.90600	10.48182	0.999999999999998	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	8.899000	0.92172	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	717	0.55835	Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;Aromatic amino acid hydroxylase, C-terminal|ACT domain;ACT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	33	chr12	102894758	.	G	A	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.614;DP=720;ExcessHet=0;FS=4.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.984;SOR=0.384	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1246,0,1288	18	0	1	0
chr12	103725080	103725080	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon45:c.G4789A:p.G1597S	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.148122671898	0.0002	.	0.0001	9.612e-05	8.64e-05	0	0	0.0002	0	0	0.0001423	22	154602	rs144900279	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	8.966e-05	0.0001	0	0	0	0.0031	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	8.166e-05	6.722e-05	7.91e-05	5.995e-05	7.221e-05	0	0.0001	0	0	9.445e-05	0.0068	0.0001	0.0005	0	0.029	0.45756	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999671	0.48205	D	3.44	0.92123	M	-2.89	0.91589	D	-3.81	0.71882	D	0.462	0.49874	0.832	0.94808	D	0.871	0.95704	D	10	0.64899546	0.69493	D	0.148123	0.83007	D	0.646	0.86586	.	.	0.867491070438	0.86620	0.8524035949781223	0.85202	0.442035396071	0.44180	0.530718505383	0.43136	T	0.540968	0.84282	D	0.0425163	0.57374	T	0.115444	0.77932	D	0.672265887260437	0.39439	D	0.881012	0.60027	D	0.42914793	0.62697	0.3759177	0.62725	0.42914793	0.62697	0.3759177	0.62725	-8.875	0.66888	D	.	.	0.198	0.41992	B	.	.	3.426504	0.47601	22.5	0.99878246437637841	0.95491	0.98580	0.84326	D	AEFBI	0.866726	0.78625	D	0.672674359218314	0.77842	6.753289	0.605841799262617	0.75364	6.297357	0.999909344462238	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	6.645000	0.74198	4.533000	0.43733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	17.894	0.88797	902	0.24074	FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002535	0.005155	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.02632	844.33	33	chr12	103725080	.	G	A	844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=719;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.425;SOR=0.833	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1405	18	0	1	0
chr12	103740688	103740688	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon55:c.G5813A:p.R1938Q	.	7	1508	7	0	0	7	0.00231558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	.	0.00399361	0.0014	0.0002	0.0002	0	0	1.5e-05	0	0.0102	0.0013325	206	154602	rs568993020	0.0006	0.0006	0.0004	0.0008	0.0093	0.0006	0.0006	0.0087	0.0085	9.001e-05	4.527e-05	0	0	0	0.0009	4.41e-05	0.0007	0.0093	0.0004	0.0004	0.0003	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	9.63e-05	0	0.0001	0	0	0	0	2.94e-05	0	0.0116	0.564	0.06302	T	0.669	0.06325	T	0.005	0.12996	B	0.004	0.10090	B	0.872783	0.07186	N	1.070130	1	0.08975	N	0.065	0.08236	N	-1.64	0.82533	D	-0.88	0.23808	N	0.118	0.10769	-0.7589	0.57465	T	0.242	0.61012	T	10	0.003883332	0.00074	T	.	.	.	0.159	0.41286	0.357	0.35897	0.314417295294	0.31040	0.5637519987623696	0.56302	0.0890517833807	0.10066	0.207325473428	0.00703	T	0.077043	0.35561	T	-0.53736	0.00347	T	-0.538542	0.18440	T	0.00516977169458664	0.00056	T	0.687931	0.29705	T	0.03430915	0.03825	0.058995068	0.10998	0.03430915	0.03825	0.058995068	0.10998	-2.555	0.06168	T	.	.	0.071	0.03773	B	.	.	-1.011365	0.00755	0.024	0.80818034726946142	0.13383	0.01903	0.05831	N	AEFBI	0.113279	0.22357	N	-1.82339274269418	0.00490	0.02110546	-1.86823453469405	0.00564	0.02505387	0.958685867552276	0.28378	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	-9.74	0.00425	-0.517000	0.06360	-2.075000	0.04251	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.583000	0.30967	0.6523:0.0:0.3477:0.0	18.652	0.91393	890	0.26919	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1390.33	40	chr12	103740688	.	G	A	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=751;ExcessHet=0;FS=3.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.153;SOR=1.061	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1233	18	0	1	0
chr12	103979899	103979899	C	A	exonic	TDG	.	nonsynonymous SNV	TDG:NM_003211:exon3:c.C235A:p.P79T	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0052	0.0004	0.0023	0	0.0008	0.0031	0.0056	0.0231	0.0041849	647	154602	rs758388260	0.0022	0.0041	0.0016	0.0028	0.0160	0.0021	0.0021	0.0153	0.0150	0.0002	0.0011	0.0055	2.52e-05	0.0005	0.0044	0.0013	0.0027	0.0160	0.0010	0.0030	0.0008	0.0011	0.0086	0.0009	0.0008	0.0065	0.0058	0.0002	0	0.0008	0.0029	0	0.0002	0.0035	0.0011	0.0009	0.0086	0.023	0.48186	D	0.018	0.59732	D	0.004	0.12183	B	0.002	0.06944	B	0.000280	0.46590	D	0.226724	0.999435	0.81001	D	1.87	0.49600	L	2.21	0.46028	T	-1.65	0.50337	N	0.178	0.20129	-0.9981	0.30451	T	0.121	0.42208	T	10	0.004401505	0.00090	T	.	.	.	0.044	0.11924	.	.	0.71034540647	0.70781	0.47358462202903356	0.47277	0.609113261058	0.55654	0.382329493761	0.22587	T	0.148085	0.48647	T	-0.141711	0.29619	T	-0.441334	0.28658	T	0.0495586411044562	0.05423	T	0.729627	0.35417	T	0.07418007	0.16629	0.06795538	0.14129	0.07418007	0.16629	0.06795538	0.14129	-5.529	0.42139	T	.	.	0.053	0.01692	B	.;.;.;.	.;.;.;.	2.252065	0.28770	17.91	0.97314621209408192	0.33346	0.95896	0.66622	D	AEFGBI	0.270118	0.38625	N	-0.216092292811573	0.32472	1.831733	-0.212287760807896	0.31094	1.756544	0.997830341347561	0.36087	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	2.27	0.27501	2.670000	0.46499	1.350000	0.25801	0.599000	0.40250	0.940000	0.32642	0.004000	0.18990	0.951000	0.49849	0.0:0.7321:0.1267:0.1411	8.449	0.32019	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.008152	0.008772	0.000000	0.008621	0.018293	0.022727	0.05263	857.83	40	chr12	103979899	.	C	A	857.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.18;MQRankSum=-6.775;QD=4.69;ReadPosRankSum=0.759;SOR=0.725	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	17	0	2	0
chr12	103980072	103980072	-	ATTGGCATAAACCCG	exonic	TDG	.	nonframeshift insertion	TDG:NM_003211:exon3:c.408_409insATTGGCATAAACCCG:p.P141_G142insIGINP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301665755	1.369e-06	0.0001	2.724e-06	0	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	0	0	0	0	0	8.996e-07	0	0	0	4.597e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	47.29	41	chr12	103980072	.	T	TATTGGCATAAACCCG	47.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=878;ExcessHet=0;FS=18.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-10.19;QD=0.33;ReadPosRankSum=-4.938;SOR=3.29	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	2004.32	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=4;MLEAF=0.105;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:118:99:.:.:175,498,4929:.	15	0	4	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*8	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	2004.32	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=3;MLEAF=0.079;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:106,0:118:99:.:.:175,498,4929:.	16	0	3	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGAT:p.M327Ifs*9	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGAT	2004.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=1;MLEAF=0.026;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,12:118:99:.:.:175,0,4395:.	18	0	1	0
chr12	103984922	103984922	-	TAAGG	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGG;NM_003211:exon8:c.964+2->TAAGG	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.148e-05	0.0003	1.26e-05	1.034e-05	4.798e-05	5.4e-06	3.91e-06	4.77e-06	3.07e-06	0	0	8.22e-05	4.798e-05	0	0	1.147e-05	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	772.7	46	chr12	103984922	.	T	TTAAGG	772.7	.	AC=2;AF=0.067;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=2;MLEAF=0.067;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,2708:.	13	0	2	4
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	772.7	46	chr12	103984922	.	T	TTAAGGA	772.7	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=1;MLEAF=0.033;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,2708:.	14	0	1	4
chr12	103984922	103984922	-	TAAGGAAGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGAAGA;NM_003211:exon8:c.964+2->TAAGGAAGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.815e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	772.7	46	chr12	103984922	.	T	TTAAGGAAGA	772.7	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=1;MLEAF=0.033;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,2708:.	14	0	1	4
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3706.52	114	chr12	103985730	.	T	TGG	3706.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1630;ExcessHet=2.9153;FS=4.626;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-7.797;QD=5.8;ReadPosRankSum=-4.562;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	18	0	1	0
chr12	103985730	103985730	-	GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	splicing	TDG	NM_001363612:exon8:c.661+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC;NM_003211:exon9:c.1090+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	.	.	.	434	1020	7	0	61	68	0.00341964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0011	0.0003	0.0002	0.0002	0.0004	0.0006	0	1.317e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3706.52	114	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGC	3706.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1630;ExcessHet=2.9153;FS=4.626;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-7.797;QD=5.8;ReadPosRankSum=-4.562;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	18	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.05263	3943.81	39	chr12	104067989	.	C	T	3943.81	.	AC=2;AF=0.053;AN=38;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=0.758	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	18	1	0	0
chr12	104103161	104103161	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon15:c.C2267T:p.T756I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00797426799649	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs779584088	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.077	0.42436	T	0.044	0.21686	B	0.036	0.22909	B	0.000959	0.40932	D	0.250743	0.997965	0.44365	D	2.305	0.65957	M	4.31	0.02412	T	-3.78	0.71519	D	0.421	0.46086	-1.0318	0.19873	T	0.014	0.05561	T	10	0.18385056	0.33732	T	0.007974	0.21136	T	0.063	0.18251	0.333	0.32005	0.168254554758	0.16434	0.9339236021016031	0.93371	0.970847484119	0.73358	0.615637183189	0.55111	T	0.420746	0.77236	T	-0.169477	0.25313	T	-0.465733	0.25978	T	0.933360576629639	0.60006	D	0.946905	0.79612	D	0.418056	0.61962	0.41673	0.65748	0.418056	0.61963	0.41673	0.65748	-10.072	0.74342	D	.	.	0.910	0.83424	P	.	.	4.285299	0.65313	24.8	0.9983247537479315	0.91370	0.94619	0.61758	D	AEFBI	0.314157	0.41910	N	0.0318564438384216	0.43309	2.626323	0.185638516350991	0.49059	3.113786	0.999999279143469	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.9	5.02	0.66742	3.302000	0.51557	7.676000	0.65050	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.0:0.9321:0.0:0.0679	15.026	0.71331	851	0.35303	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2298.33	33	chr12	104103161	.	C	T	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.168;DP=858;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.34;SOR=0.755	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	104304711	104304711	A	G	exonic	EID3	.	nonsynonymous SNV	EID3:NM_001008394:exon1:c.A777G:p.I259M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0110231514622	.	.	0.0001	0	0	0	0	4.518e-05	0	0.0007	9.06e-05	14	154602	rs753380448	5.269e-05	5.267e-05	2.587e-05	7.978e-05	0.0007	4.279e-05	3.954e-05	0.0005	0.0004	0	2.24e-05	0	0	0	0.0007	1.619e-05	6.627e-05	0.0006	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.989e-05	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	0.113	0.28772	T	0.042	0.50226	D	0.977	0.58535	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	0.835	0.21042	L	0.84	0.47477	T	-1.41	0.34795	N	0.244	0.27554	-0.8715	0.50416	T	0.158	0.49060	T	9	0.25183886	0.42529	T	0.011023	0.28208	T	0.302	0.62290	0.733	0.86633	0.378322506985	0.37446	0.36985087594658306	0.36899	0.593432301809	0.54691	0.473144888878	0.35113	T	0.049631	0.28362	T	-0.38123	0.03060	T	-0.435955	0.29261	T	0.190396830439568	0.19868	T	0.783822	0.42110	T	0.10431016	0.24658	0.13143653	0.31561	0.10431016	0.24658	0.13143653	0.31560	-6.762	0.52276	T	.	.	0.098	0.16275	B	.	.	2.068300	0.26303	17.07	0.99414380180071316	0.63453	0.45859	0.27632	N	AEDBCI	0.125795	0.24245	N	0.0762573660707375	0.45356	2.793574	-0.00143913966828166	0.39650	2.354222	0.999990507025234	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.349732	0.05809	1	.	.	4.45	0.502	0.16138	-0.754000	0.04892	0.200000	0.15841	0.756000	0.94297	0.606000	0.27796	0.591000	0.25671	0.999000	0.91618	0.4995:0.2077:0.1085:0.1843	1.056	0.01491	626	0.65439	Non-structural maintenance of chromosome element 4, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1597.33	33	chr12	104304711	.	A	G	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.9;SOR=0.743	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,106,1515	18	0	1	0
chr12	104326400	104326400	C	T	exonic	TXNRD1	.	unknown	UNKNOWN	.	4	221	1	0	0	1	0.00225734	.	.	.	738406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0024	0	0.0004	0	0	0	0	0.0145	0.0011837	183	154602	rs542165610	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0005	0.0091	0.0089	3.099e-05	4.855e-05	0	2.56e-05	0	0.0007	1.543e-05	0.0007	0.0097	0.0004	0.0004	0.0002	0.0006	0.0128	0.0003	0.0003	0.0102	0.0093	0	0	0	0	0	0	0	1.474e-05	0	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003027	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	166.33	25	chr12	104326400	.	C	T	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=652;ExcessHet=0;FS=1.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=0.312;SOR=0.967	GT:AD:DP:GQ:PL	0/0:34,0:34:88:0,88,888	18	0	1	0
chr12	104757268	104757268	G	A	exonic	CHST11	.	nonsynonymous SNV	CHST11:NM_001173982:exon3:c.G509A:p.R170H,CHST11:NM_018413:exon3:c.G524A:p.R175H	.	429	1091	2	0	0	2	0.000915751	.	.	.	2273949	not_specified|Osteochondrodysplasia,_brachydactyly,_and_overlapping_malformed_digits	MedGen:CN169374|MONDO:MONDO:0032574,MedGen:C4748496,OMIM:618167	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.0622219137321	.	0.000199681	0.0001	0	8.64e-05	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs527621055	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0010	0.0009	0.0001	2.236e-05	0	0	0	0.0016	0.0001	0.0003	0.0012	9.199e-05	9.187e-05	9e-05	9.407e-05	0.0006	5.528e-05	4.365e-05	0.0002	9.011e-05	2.409e-05	0	6.538e-05	0	0	0	0	0.0001	0	0.0006	0.003	0.72154	D	0.015	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.44	0.92123	M	-0.92	0.75108	T	-3.45	0.67589	D	0.893	0.89242	0.460	0.89975	D	0.680	0.88929	D	10	0.5927463	0.66472	D	0.062222	0.68584	D	0.658	0.87184	.	.	0.960933901439	0.96051	0.7903158257306436	0.78983	1.89546967938	0.92762	0.794410467148	0.81114	T	0.737215	0.92691	D	0.120661	0.66437	D	0.33579	0.89747	D	0.413831157314764	0.29461	T	0.984801	0.94902	D	0.54784304	0.69835	0.52857304	0.72762	0.54784304	0.69836	0.52857304	0.72762	-9.174	0.68810	D	.	.	0.45	0.66992	A	.;.;.	.;.;.	5.906270	0.94018	33	0.99949632519525011	0.99938	0.99139	0.91801	D	AEFBI	0.903347	0.85231	D	1.00974607576539	0.96037	14.231	0.949939026070896	0.97403	16.06913	0.999999999997285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	10.003000	0.99689	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.215	0.93762	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2800.33	41	chr12	104757268	.	G	A	2800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.642;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	18	0	1	0
chr12	104928286	104928286	T	C	exonic	SLC41A2	.	nonsynonymous SNV	SLC41A2:NM_001352171:exon2:c.A242G:p.E81G,SLC41A2:NM_001352172:exon2:c.A242G:p.E81G,SLC41A2:NM_001352169:exon3:c.A242G:p.E81G,SLC41A2:NM_001352170:exon3:c.A242G:p.E81G,SLC41A2:NM_032148:exon3:c.A242G:p.E81G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00501654590727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173953923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.58626	T	0.231	0.59732	T	0.0	0.02946	B	0.0	0.01387	B	0.000007	0.62929	D	0.064474	0.994525	0.42315	D	0.55	0.14455	N	1.95	0.32482	T	-1.45	0.90023	N	0.19	0.20793	-1.0981	0.04328	T	0.079	0.31314	T	10	0.14551082	0.27601	T	0.005017	0.12690	T	0.131	0.35738	0.319	0.29741	0.043077524339	0.03247	0.19779725142821464	0.19696	0.591342767724	0.54574	0.350371956825	0.17976	T	0.035414	0.36423	T	-0.0882601	0.38363	T	-0.364556	0.37524	T	0.399718905705128	0.28931	T	0.829117	0.49623	T	0.17649415	0.38565	0.1694247	0.38975	0.17649415	0.38565	0.1694247	0.38974	-3.262	0.13252	T	.	.	0.098	0.30103	B	.;.;.;.	.;.;.;.	3.025580	0.40509	21.2	0.99820228552930557	0.90326	0.90618	0.51944	D	AEFDBI	0.595528	0.59004	D	0.0585253689786046	0.44536	2.725819	0.256517978684392	0.53021	3.473234	0.999999976449939	0.74766	0.706298	0.61202	0	0.719019	0.82233	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	3.808000	0.55303	6.080000	0.53339	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.822	0.85699	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2519.33	35	chr12	104928286	.	T	C	2519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=824;ExcessHet=0;FS=2.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.004;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	105061661	105061661	G	A	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon8:c.C1013T:p.T338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0526618555529	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs766587949	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.022	0.48642	D	0.031	0.53788	D	0.857	0.47240	P	0.387	0.44046	B	0.000009	0.62929	D	0.144833	1	0.81001	D	2.645	0.77386	M	-0.99	0.75911	T	-4.33	0.76740	D	0.636	0.64903	-0.0195	0.81849	T	0.444	0.78112	T	10	0.7274646	0.74070	D	0.052662	0.65161	D	0.192	0.47115	0.424	0.46857	0.942189031282	0.94158	0.7911739815142591	0.79069	0.465709747895	0.45997	0.6597635746	0.61375	T	0.378621	0.74155	T	0.0834356	0.62440	D	-0.117927	0.61973	T	0.98406594991684	0.75504	D	0.859414	0.55137	D	0.3487232	0.56967	0.24594975	0.50093	0.3487232	0.56967	0.24594975	0.50092	-8.489	0.64357	D	.	.	0.518	0.65399	A	.	.	3.961164	0.58095	23.9	0.99905517731659732	0.97651	0.98320	0.81598	D	AEFGBI	0.790144	0.71912	D	0.550224312150136	0.70095	5.451553	0.560360088329194	0.72122	5.760221	0.99993177455045	0.46732	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.62	5.62	0.85714	6.622000	0.74100	11.546000	0.93156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.680000	0.33542	0.0:0.0:1.0:0.0	19.285	0.94054	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	35	chr12	105061661	.	G	A	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.627;DP=756;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.989;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	18	0	1	0
chr12	105122179	105122179	C	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon10:c.C727G:p.P243A,WASHC4:NM_015275:exon10:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0157672803897	.	.	4.149e-05	0	8.661e-05	0	0	3.002e-05	0	0.0001	3.23e-05	5	154602	rs776626849	1.782e-05	1.779e-05	1.774e-05	1.791e-05	0.0002	1.24e-05	1.054e-05	9.796e-05	7.842e-05	0	0	0	0	0	0.0002	7.209e-06	4.976e-05	0.0002	6.582e-06	6.57e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.526	0.07116	T	0.817	0.03863	T	0.192	0.29441	B	0.043	0.24256	B	0.000001	0.84330	D	0.098714	1	0.81001	D	.	.	.	1.66	0.27486	T	-2.11	0.48020	N	0.593	0.65501	-1.0915	0.05286	T	0.069	0.28147	T	10	0.2600579	0.43450	T	0.015767	0.36685	T	0.143	0.38195	0.353	0.35246	0.568285537894	0.56494	0.3702114291709014	0.36935	0.215138462999	0.24049	0.706216156483	0.68044	T	0.005723	0.22156	T	-0.12291	0.32649	T	-0.177659	0.56738	T	0.19294111430645	0.20016	T	0.932007	0.74652	D	0.10110468	0.23879	0.19841634	0.43673	0.10110468	0.23879	0.19841634	0.43672	-3.152	0.11903	T	0.17145677444465504	0.21613	0.176	0.41828	B	.;.	.;.	2.989097	0.39896	21.1	0.94030710126409189	0.24144	0.98868	0.87925	D	AEFBI	0.846468	0.76334	D	0.146843581499717	0.48663	3.075797	0.338166129143861	0.57799	3.946986	0.999999999998941	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.603000	0.82048	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.940	0.97160	856	0.34373	WASH complex subunit 7, N-terminal;WASH complex subunit 7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1225.83	34	chr12	105122179	.	C	G	1225.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.963;DP=678;ExcessHet=0.119;FS=1.796;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.931;SOR=0.928	GT:AD:DP:GQ:PL	0/1:13,33:46:99:791,0,202	17	0	2	0
chr12	105217101	105217101	T	C	exonic	APPL2	.	nonsynonymous SNV	APPL2:NM_001251904:exon4:c.A253G:p.T85A,APPL2:NM_001251905:exon4:c.A124G:p.T42A,APPL2:NM_018171:exon4:c.A253G:p.T85A	.	432	1089	1	0	0	1	0.000458926	.	.	.	4042031	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.0138079164212	.	0.000199681	5.975e-05	0.0001	0	0	0	1.546e-05	0	0.0003	5.17e-05	8	154602	rs528912301	4.593e-05	4.857e-05	2.864e-05	6.341e-05	0.0005	3.669e-05	3.354e-05	0.0003	0.0003	0.0002	0	0	2.523e-05	0	0.0005	9.91e-06	0.0001	0.0005	7.22e-05	7.217e-05	7.707e-05	6.711e-05	0.0002	3.967e-05	3.124e-05	0.0001	9.908e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.02	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	3.88	0.03570	T	-2.8	0.82341	D	0.595	0.61680	-1.1544	0.00900	T	0.036	0.15596	T	10	0.33389795	0.50573	T	0.013808	0.33491	T	0.308	0.62947	0.645	0.78224	0.697251103624	0.69463	0.5781132597627752	0.57740	0.517390539339	0.49607	0.614213883877	0.54911	T	0.040601	0.30434	T	-0.0365546	0.46459	T	0.0637491	0.74494	D	0.402835130691528	0.29049	T	0.923508	0.72088	D	0.55925095	0.70469	0.37678504	0.62793	0.55925095	0.70470	0.37678504	0.62792	-3.411	0.21463	T	.	.	0.154	0.39373	B	.;.;.;.;.	.;.;.;.;.	4.116786	0.61501	24.3	0.99781672632496177	0.86867	0.98473	0.83148	D	AEFBI	0.726541	0.67517	D	0.737645656883052	0.82097	7.679516	0.755327849063467	0.86555	8.926682	0.999999999998491	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.203000	0.77377	3.499000	0.38765	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.805	0.78265	667	0.61242	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	815.33	33	chr12	105217101	.	T	C	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.256;DP=706;ExcessHet=0;FS=1.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.703;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	18	0	1	0
chr12	106239646	106239646	G	A	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.C1187T:p.S396L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00638978	0.0031	0	0.0009	0	0	3.008e-05	0	0.0219	0.0027102	419	154602	rs375178726	0.0013	0.0013	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0201	2.987e-05	8.944e-05	0	5.038e-05	1.872e-05	0.0009	1.799e-05	0.0014	0.0213	0.0008	0.0008	0.0005	0.0012	0.0249	0.0007	0.0007	0.0212	0.0199	7.214e-05	0	0	0	0.0002	9.416e-05	0	1.47e-05	0	0.0249	0.154	0.24277	T	1.0	0.01155	T	0.013	0.16609	B	0.003	0.08700	B	0.692517	0.06155	N	1.181770	1	0.08975	N	1.3	0.32576	L	-1.11	0.77466	T	-2.16	0.48850	N	0.084	0.06059	-0.9200	0.45554	T	0.279	0.65079	T	10	0.0029112399	0.00047	T	.	.	.	0.110	0.31079	0.294	0.25720	0.4147015802	0.41088	.	.	0.232613419967	0.25798	0.273899912834	0.06655	T	0.046218	0.27359	T	-0.482084	0.00719	T	-0.449	0.27806	T	0.00945625406961346	0.00122	T	0.605739	0.22785	T	0.04556925	0.07481	0.06535213	0.13232	0.04556925	0.07481	0.06535213	0.13232	-3.991	0.23669	T	.	.	0.090	0.12750	B	.	.	1.136555	0.15237	11.69	0.96170373962086253	0.28926	0.19939	0.20853	N	AEFDBI	0.174143	0.30126	N	-0.890762061943879	0.11062	0.5318141	-0.912096872344374	0.11808	0.6038442	0.940501322223616	0.27434	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.892	0.18364	0.554000	0.23113	3.673000	0.39443	0.676000	0.76740	0.000000	0.06391	0.649000	0.25954	0.008000	0.08271	0.3125:0.0:0.547:0.1405	4.660	0.12023	907	0.22727	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1350.33	34	chr12	106239646	.	G	A	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=775;ExcessHet=0;FS=4.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.982;SOR=1.107	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr12	106815141	106815141	C	T	exonic	RIC8B	.	nonsynonymous SNV	RIC8B:NM_001330146:exon2:c.C530T:p.T177M,RIC8B:NM_001351363:exon2:c.C530T:p.T177M,RIC8B:NM_001330145:exon3:c.C578T:p.T193M,RIC8B:NM_001330147:exon3:c.C578T:p.T193M,RIC8B:NM_001351366:exon3:c.C314T:p.T105M,RIC8B:NM_001351367:exon3:c.C314T:p.T105M,RIC8B:NM_018157:exon3:c.C578T:p.T193M,RIC8B:NM_001351361:exon4:c.C554T:p.T185M,RIC8B:NM_001351362:exon4:c.C554T:p.T185M,RIC8B:NM_001351364:exon4:c.C458T:p.T153M	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0300850452578	0.0062	0.00219649	0.0055	0.0011	0.0021	0	0.0041	0.0079	0.0044	0.0042	0.0055497	858	154602	rs144718130	0.0073	0.0073	0.0073	0.0072	0.0077	0.0072	0.0071	0.0076	0.0075	0.0009	0.0020	0.0291	0	0.0052	0.0049	0.0077	0.0080	0.0044	0.0055	0.0056	0.0058	0.0052	0.0077	0.0052	0.0051	0.0072	0.0070	0.0015	0.0066	0.0023	0.0346	0	0.0059	0.0034	0.0077	0.0024	0.0054	0.002	0.72154	D	0.034	0.63918	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.086040	1	0.81001	D	1.915	0.51223	L	0.78	0.49358	T	-2.68	0.57275	D	0.678	0.68516	-0.7077	0.60065	T	0.231	0.59632	T	10	0.008906454	0.00202	T	0.030085	0.52471	D	0.204	0.49076	.	.	0.15499578495	0.15088	0.5005013620517057	0.49971	1.53778767569	0.87672	0.643066287041	0.59000	T	0.037384	0.33252	T	-0.27047	0.11705	T	-0.148964	0.59336	T	0.0178634694839841	0.00514	T	0.914409	0.70605	D	0.39497113	0.60383	0.43101045	0.66732	0.39497113	0.60383	0.43101045	0.66733	-8.02	0.64845	D	.	.	0.131	0.28145	B	.;.;.;.	.;.;.;.	4.912373	0.80831	27.4	0.99917223858739768	0.98518	0.97280	0.73763	D	AEFBI	0.450153	0.50467	N	0.712874322352948	0.80475	7.302711	0.71639421673419	0.83624	8.070709	0.999999999993313	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	3.754000	0.54903	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.296	0.98558	408	0.82256	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	4424.83	33	chr12	106815141	.	C	T	4424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=922;ExcessHet=0.119;FS=0.405;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.22;SOR=0.649	GT:AD:DP:GQ:PL	0/1:74,80:154:99:2242,0,1844	17	0	2	0
chr12	108623794	108623794	G	C	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.C562G:p.Q188E,SELPLG:NM_003006:exon2:c.C514G:p.Q172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00160772469807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.381728	0.04424	N	1.665560	1	0.08975	N	0.345	0.11182	N	2.61	0.23486	T	-0.21	0.10308	N	0.019	0.01004	-1.0412	0.16951	T	0.030	0.12979	T	10	0.037587255	0.02122	T	0.001608	0.02600	T	0.014	0.01968	0.27	0.21893	0.296679040009	0.29266	0.030459393722495974	0.02994	0.114126153488	0.12869	0.16088411212	0.00011	T	0.057901	0.30695	T	-0.401803	0.02253	T	-0.814939	0.01557	T	0.0565793545720315	0.06619	T	0.439356	0.12136	T	0.050989404	0.09298	0.033860832	0.02353	0.050989404	0.09297	0.033860832	0.02353	-8.227	0.63210	D	.	.	0.073	0.09578	B	.;.;.	.;.;.	-0.137780	0.03423	0.624	0.5260152460065034	0.04779	0.10734	0.16155	N	AEFDBHCI	0.066622	0.13057	N	-1.26606236609472	0.04091	0.1840128	-1.30453247476051	0.04371	0.2060299	0.999718327564256	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.59	-0.8	0.10347	-0.514000	0.06382	-0.731000	0.07661	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1588:0.312:0.3253:0.2038	1.963	0.03184	853	0.34956	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1782.33	33	chr12	108623794	.	G	C	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=885;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.241;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1326	18	0	1	0
chr12	108702849	108702849	C	T	exonic	CORO1C	.	nonsynonymous SNV	CORO1C:NM_001105237:exon1:c.G101A:p.R34Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0531873465423	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs183262931	2.097e-05	2.052e-05	2.141e-05	2.051e-05	0.0004	1.471e-05	1.272e-05	6.163e-05	2.548e-05	0	0	3.972e-05	0	0	0.0004	1.854e-05	5.183e-05	3.79e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.013	0.53900	D	0.552	0.09361	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.02	0.62318	T	0.07	0.06138	N	0.055	0.02658	-1.0136	0.25784	T	0.128	0.43585	T	8	0.0699594	0.10112	T	0.053187	0.65368	D	0.063	0.18251	.	.	0.311889312631	0.30795	0.11787155827765451	0.11714	.	.	0.30627065897	0.11344	T	.	.	.	-0.349581	0.04754	T	-0.542954	0.18008	T	0.124309562146664	0.14846	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-3.723	0.19658	T	.	.	0.077	0.06387	B	.	.	1.414298	0.18301	13.66	0.69424756813259103	0.08968	0.03890	0.09262	N	AEFDBCIJ	0.037634	0.05204	N	-0.589005655452266	0.19277	1.00766	-0.48420695834253	0.22587	1.227619	0.999940948815855	0.47345	0.45559	0.09716	2	0.519925	0.08708	0	0.491513	0.07944	0	0.322989	0.05693	1	.	.	4.82	3.67	0.41236	0.893000	0.27970	0.535000	0.19282	-0.114000	0.14653	1.000000	0.71638	0.890000	0.27818	0.021000	0.11733	0.0:0.099:0.0:0.901	7.344	0.25827	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	33	chr12	108702849	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=738;ExcessHet=0;FS=3.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.539;SOR=1.089	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	18	0	1	0
chr12	108788383	108788383	T	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.A2755G:p.I919V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00334898760555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.644	0.06881	T	0.001	0.07471	B	0.002	0.06944	B	0.076118	0.21182	N	0.515626	0.999353	0.21317	N	1.78	0.46185	L	2.68	0.12371	T	-0.1	0.08495	N	0.039	0.01274	-0.9766	0.35772	T	0.021	0.09009	T	10	0.06969142	0.10036	T	0.003349	0.07482	T	0.021	0.04004	0.229	0.15556	0.128874641272	0.12493	0.0994705780884719	0.09878	0.204015260203	0.22813	0.346592843533	0.17419	T	0.044739	0.26909	T	-0.320195	0.06882	T	-0.697715	0.05951	T	0.0734191089868546	0.09123	T	0.742826	0.36203	T	0.029248659	0.02388	0.03367834	0.02303	0.029248659	0.02388	0.03367834	0.02302	-3.661	0.18744	T	.	.	0.066	0.02200	B	.	.	1.631291	0.20829	14.93	0.89362508875963598	0.18732	0.67116	0.33316	D	AEFDBCI	0.138842	0.26025	N	-0.502733793775818	0.21992	1.171123	-0.371189020430652	0.25860	1.424775	0.929456022933376	0.26969	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.41	0.014	0.13419	0.491000	0.22128	1.347000	0.25779	0.665000	0.62972	0.997000	0.40164	0.998000	0.33993	1.000000	0.97212	0.0:0.3545:0.0:0.6455	8.881	0.34533	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1582.33	33	chr12	108788383	.	T	C	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.424;DP=987;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.033;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	18	0	1	0
chr12	108788442	108788442	G	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.C2696G:p.P899R	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00729197730204	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0010	0.0013	0.0066	0.001119	173	154602	rs146273433	0.0007	0.0008	0.0005	0.0009	0.0054	0.0007	0.0007	0.0050	0.0048	3.121e-05	0.0013	0.0081	0	1.957e-05	0.0036	0.0002	0.0014	0.0054	0.0009	0.0009	0.0008	0.0011	0.0050	0.0008	0.0008	0.0034	0.0029	7.218e-05	0	0.0031	0.0098	0	0	0.0102	0.0004	0.0019	0.0050	0.042	0.41637	D	0.431	0.13673	T	0.201	0.29693	B	0.063	0.27082	B	0.526348	0.11686	N	0.802027	1	0.08975	N	1.61	0.41143	L	2.79	0.11189	T	-1.02	0.26843	N	0.124	0.11626	-1.0071	0.27819	T	0.027	0.11707	T	10	0.0038118064	0.00072	T	0.007292	0.19334	T	0.031	0.07369	.	.	0.19168177325	0.18762	0.31280380106991573	0.31193	0.281092337101	0.30582	0.333899259567	0.15521	T	0.044405	0.26805	T	-0.561553	0.00248	T	-0.577766	0.14745	T	0.0115682726316698	0.00175	T	0.744526	0.36463	T	0.035950575	0.04328	0.042760726	0.05165	0.035950575	0.04328	0.042760726	0.05165	-3.494	0.16348	T	.	.	0.089	0.12276	B	.	.	2.181558	0.27809	17.59	0.94268694792386953	0.24555	0.37481	0.25772	N	AEFDBCI	0.157702	0.28325	N	-0.780241233445969	0.13826	0.6839557	-0.871908698914118	0.12761	0.6583303	0.995597463849118	0.34213	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.25	1.0	0.18999	1.379000	0.33946	2.357000	0.32349	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.636000	0.32315	0.1389:0.2472:0.6139:0.0	7.893	0.28851	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.007576	0.02632	1334.33	33	chr12	108788442	.	G	C	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.925;DP=978;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.114;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	18	0	1	0
chr12	108799183	108799183	C	T	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon12:c.G1199A:p.C400Y,SSH1:NM_001161330:exon13:c.G1166A:p.C389Y,SSH1:NM_018984:exon13:c.G1166A:p.C389Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.215838779593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.565	0.75005	M	-2.03	0.85613	D	-8.61	0.98237	D	0.896	0.93135	0.731	0.93565	D	0.789	0.92843	D	10	0.9083365	0.90198	D	0.215839	0.87528	D	0.902	0.97286	0.594	0.72371	0.946598022835	0.94603	0.9392735801354261	0.93908	1.15822426379	0.79403	0.926552414894	0.98781	D	0.842015	0.96324	D	0.450	0.92496	D	0.409048	0.92404	D	0.999198853969574	0.96500	D	0.974802	0.91047	D	0.9275484	0.93991	0.9551224	0.98701	0.9275484	0.93992	0.9551224	0.98701	-14.85	0.95491	D	.	.	0.998	0.97755	P	.;.;.	.;.;.	5.808005	0.93643	33	0.99761739569647756	0.85091	0.95875	0.66529	D	AEFDBCIJ	0.916710	0.88328	D	0.903384765271185	0.91925	11.13784	0.857225187144014	0.93432	12.03812	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.27	5.27	0.73797	7.905000	0.86479	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.293	0.94097	872	0.31118	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	902.33	33	chr12	108799183	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=708;ExcessHet=0;FS=1.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.194;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr12	108807666	108807666	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon7:c.C731T:p.T244M,SSH1:NM_001161330:exon8:c.C698T:p.T233M,SSH1:NM_018984:exon8:c.C698T:p.T233M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00973362549824	.	.	3.305e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs774153220	1.232e-05	1.231e-05	9.531e-06	1.514e-05	8.962e-05	7.7e-06	6.35e-06	2.995e-05	2.038e-05	8.962e-05	0	0	2.521e-05	0	0	6.298e-06	1.657e-05	6.957e-05	6.594e-06	6.57e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.031	0.45039	D	0.1	0.38742	T	0.986	0.73220	D	0.749	0.68658	P	0.000087	0.51296	D	0.203828	0.61892	0.81001	D	2.08	0.57402	M	1.27	0.36146	T	-2.56	0.55983	D	0.392	0.45615	-0.9251	0.44844	T	0.181	0.52843	T	10	0.30910945	0.48401	T	0.009734	0.25404	T	0.114	0.32008	0.269	0.21735	0.339940258815	0.33601	0.5282154174277344	0.52745	0.284214640594	0.30848	0.587517797947	0.51144	T	0.091626	0.38835	T	-0.273435	0.11377	T	-0.393879	0.34097	T	0.512461245059967	0.33088	D	0.915508	0.69822	D	0.10963873	0.25921	0.11936199	0.28810	0.10963873	0.25920	0.11936199	0.28810	-6.812	0.61336	T	.	.	0.074	0.05579	B	.;.;.	.;.;.	4.688242	0.75090	26.3	0.97555303612245292	0.34593	0.89671	0.50286	D	AEFDGBCI	0.514144	0.54164	D	0.487561409814262	0.66361	4.940388	0.473428577047099	0.66234	4.925694	0.999999992284099	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	5.344000	0.65751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.0:0.0:1.0:0.0	18.051	0.89272	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	796.33	33	chr12	108807666	.	G	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=725;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.063;SOR=0.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1389	18	0	1	0
chr12	109099241	109099241	C	T	exonic	UNG	.	nonsynonymous SNV	UNG:NM_003362:exon2:c.C365T:p.P122L,UNG:NM_080911:exon3:c.C392T:p.P131L	Immunodeficiency with hyper IgM, type 5, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	571181	Hyper-IgM_syndrome_type_5	MONDO:MONDO:0011971,MedGen:C1720958,OMIM:608106,Orphanet:101092	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0598056217619	0.0006	0.000199681	0.0001	0.0014	0	0	0	0	0	0	0.0001035	16	154602	rs140829672	6.841e-05	6.84e-05	8.032e-05	5.638e-05	0.0024	5.713e-05	5.326e-05	0.0020	0.0018	0.0024	0.0001	0	0	0	0	1.799e-06	0.0002	0	0.0007	0.0007	0.0007	0.0006	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0.0001	0	0	0	0	0	0.0005	0	0.247	0.26965	T	0.264	0.29442	T	0.003	0.11197	B	0.005	0.11217	B	0.000000	0.84330	D	0.050779	1	0.81001	D	2.255	0.64187	M	-0.99	0.75911	T	-1.91	0.44471	N	0.323	0.37613	-0.5935	0.65080	T	0.313	0.68317	T	10	0.030479461	0.01174	T	0.059806	0.67788	D	0.208	0.49714	.	.	0.882676579953	0.88152	0.5903328770255161	0.58963	0.129621107646	0.14613	0.379963219166	0.22251	T	0.233807	0.60069	T	-0.362425	0.03995	T	-0.296425	0.45101	T	0.0521257350615841	0.05868	T	0.917608	0.70392	D	0.452227	0.64182	0.28855714	0.54873	0.452227	0.64183	0.28855714	0.54872	-5.085	0.37748	T	0.18040434698353905	0.23215	0.112	0.39596	B	.;.	.;.	3.618061	0.51192	23.1	0.8969719610026885	0.19022	0.95847	0.66408	D	AEFDGBI	0.627266	0.60978	D	-0.262706219633788	0.30599	1.707697	-0.119114788744529	0.34619	1.993471	0.999999753061692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.05	4.15	0.47978	4.278000	0.58741	4.892000	0.45774	-0.184000	0.09925	0.981000	0.35396	0.984000	0.30665	0.983000	0.59808	0.1556:0.8444:0.0:0.0	13.674	0.61917	568	0.70638	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1832.33	34	chr12	109099241	.	C	T	1832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.329;DP=776;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.596;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	0	1	0
chr12	109139509	109139509	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon2:c.G104A:p.S35N	.	.	.	.	.	.	.	.	.	.	.	2375484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00689612359186	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750878973	1.437e-05	1.437e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0.0002	1.799e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.455966	0.12449	N	0.739768	1	0.08975	N	1.955	0.52871	M	0.76	0.49919	T	-0.62	0.61284	N	0.077	0.05162	-0.9986	0.30311	T	0.107	0.38906	T	10	0.09435046	0.16769	T	0.006896	0.18233	T	0.028	0.06331	.	.	0.271763555656	0.26798	0.04155179673027719	0.04100	0.221885408441	0.24726	0.328330993652	0.14681	T	0.341097	0.71004	T	-0.296348	0.09008	T	-0.66346	0.08035	T	0.0634503471908699	0.07700	T	0.39666	0.09990	T	0.040642202	0.05840	0.06564378	0.13335	0.040642202	0.05840	0.06564378	0.13335	-5.483	0.41709	T	.	.	0.060	0.13783	B	.;.;.	.;.;.	0.176598	0.05646	2.098	0.93662804358390217	0.23554	0.04264	0.09797	N	AEFBI	0.061167	0.11675	N	-0.779256794451868	0.13852	0.6854274	-0.80250566741432	0.14436	0.7542069	3.01942643106712E-4	0.06454	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.84	0.32241	0.052000	0.14046	1.037000	0.23526	0.676000	0.76740	0.000000	0.06391	0.252000	0.23925	0.011000	0.09372	0.2604:0.0:0.7396:0.0	7.702	0.27795	638	0.64280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	35	chr12	109139509	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=750;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.68;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr12	109245726	109245726	A	G	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon38:c.A5279G:p.N1760S	.	418	1089	15	0	0	15	0.00683995	.	.	.	3203651	ACACB-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.555	0.111149620622	0.0006	0.000998403	0.0012	0.0003	0.0037	0	0	0.0010	0.0055	0.0018	0.0011513	178	154602	rs147443159	0.0008	0.0008	0.0007	0.0009	0.0107	0.0007	0.0007	0.0086	0.0078	0.0009	0.0033	7.653e-05	0	0	0.0107	0.0006	0.0014	0.0015	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0022	0.0003	0	0.0031	0	0	0	0.0272	0.0010	0.0066	0.0008	0.38	0.11191	T	0.533	0.10000	T	0.997	0.70673	D	0.968	0.71741	D	0.000001	0.62929	D	0.098929	0.999987	0.58761	D	1.625	0.41611	L	-3.69	0.95317	D	-2.8	0.59226	D	0.611	0.68342	0.728	0.93527	D	0.852	0.95070	D	10	0.013752043	0.00291	T	0.11115	0.78881	D	0.555	0.81659	.	.	0.69773716983	0.69512	0.6629170389092041	0.66228	0.211791101344	0.23679	0.567744493484	0.48359	T	0.572186	0.85853	D	-0.1984	0.21036	T	-0.060815	0.66276	T	0.0396252721292233	0.03622	T	0.989001	0.96348	D	0.43570864	0.63125	0.3102782	0.57040	0.43570864	0.63125	0.3102782	0.57039	-7.22	0.55625	T	.	.	0.170	0.43283	B	.;.;.	.;.;.	4.305703	0.65784	24.9	0.99693135630277352	0.80112	0.99803	0.99571	D	AEFBI	0.934321	0.92751	D	0.516008828449457	0.68037	5.162218	0.538507765652113	0.70601	5.529352	0.999943110972472	0.47345	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	8.947000	0.92735	10.286000	0.83271	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.840	0.69846	694	0.58444	Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.015152	0.023098	0.002924	0.050000	0.017241	0.009146	0.003788	0.02632	710.33	33	chr12	109245726	.	A	G	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.157;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr12	109246234	109246234	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5357A:p.R1786Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	713318	ACACB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.855	0.22667478314	0.0048	0.00279553	0.0046	0.0015	0.0016	0.0002	0.0018	0.0061	0.0011	0.0065	0.004586	709	154602	rs144673785	0.0062	0.0062	0.0063	0.0062	0.0071	0.0061	0.0061	0.0070	0.0069	0.0014	0.0012	0.0028	0	0.0014	0.0033	0.0071	0.0051	0.0071	0.0044	0.0044	0.0045	0.0043	0.0073	0.0041	0.0040	0.0061	0.0059	0.0016	0.0482	0.0023	0.0046	0.0004	0.0018	0.0068	0.0066	0.0033	0.0073	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.058289	0.999999	0.81001	D	3.58	0.93551	H	-4.65	0.97938	D	-3.74	0.71042	D	0.973	0.98368	0.903	0.95720	D	0.958	0.98646	D	10	0.098863095	0.17904	T	0.226675	0.88055	D	0.855	0.95544	.	.	0.788827947797	0.78687	0.9634623608571236	0.96333	0.94141016562	0.72219	0.482595443726	0.36414	T	0.96615	0.99597	D	0.233261	0.77027	D	0.573963	0.96277	D	0.0615756208961317	0.07414	T	0.996	0.98873	D	0.78223073	0.82791	0.5406479	0.73452	0.78223073	0.82793	0.5406479	0.73453	-11.021	0.79774	D	.	.	0.419	0.67259	A	.;.;.	.;.;.	4.654274	0.74218	26.1	0.99938655837885371	0.99698	0.98739	0.86233	D	AEFBI	0.950762	0.96471	D	0.770890160005408	0.84256	8.237651	0.612763216402882	0.75866	6.386948	0.997955428755747	0.36237	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.34	0.51267	9.990000	0.99219	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.0:0.8608:0.1392	15.540	0.75769	694	0.58444	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.018939	0.02632	1477.33	34	chr12	109246234	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.46;DP=750;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.099;SOR=0.985	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr12	109246356	109246356	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5479A:p.V1827M	.	415	1106	0	1	0	2	0.000903342	.	.	.	3417442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.766	0.259613303569	.	0.000199681	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs563984467	4.515e-05	4.515e-05	3.947e-05	5.088e-05	0.0002	3.641e-05	3.321e-05	8.885e-05	7.053e-05	0.0001	0.0001	0	0.0002	0	0.0002	2.878e-05	4.967e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0008	7.138e-05	5.786e-05	0.0003	0.0002	9.728e-05	0	0.0001	0	0.0008	9.566e-05	0	5.894e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	0.985	0.61118	D	0.743	0.55802	P	0.001063	0.40389	N	0.233514	0.930616	0.28627	N	1.735	0.44892	L	-5.06	0.98629	D	-1.54	0.37375	N	0.527	0.55626	0.773	0.94076	D	0.907	0.96932	D	10	0.29740834	0.47302	T	0.259613	0.89453	D	0.766	0.92087	0.597	0.72739	0.670013592873	0.66722	0.7146101834651575	0.71404	0.672002035909	0.59500	0.360275506973	0.19426	T	0.710038	0.91722	D	-0.0510086	0.44293	T	-0.0107229	0.69637	D	0.692193269729614	0.40350	D	0.982402	0.94055	D	0.2287447	0.45599	0.18297517	0.41258	0.2287447	0.45599	0.18297517	0.41257	-5.442	0.41321	T	.	.	0.140	0.31507	B	.;.;.	.;.;.	3.060562	0.41100	21.3	0.99739616341014659	0.83409	0.63511	0.32112	D	AEFDBI	0.150809	0.27517	N	0.0550210576241339	0.44375	2.712628	0.0671363522125405	0.42909	2.603696	5.12439339088621E-4	0.07201	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	3.3	0.36912	1.304000	0.33087	0.158000	0.15372	-0.888000	0.02403	1.000000	0.71638	0.336000	0.24398	0.981000	0.58702	0.2218:0.4584:0.3197:0.0	9.318	0.37105	694	0.58444	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1868.33	44	chr12	109246356	.	G	A	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=825;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.298;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	18	0	1	0
chr12	109259064	109259064	T	-	exonic	ACACB	.	frameshift deletion	ACACB:NM_001093:exon47:c.6452delT:p.L2151Rfs*2	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1920.29	43	chr12	109259063	.	CT	C	1920.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.219;DP=849;ExcessHet=0;FS=2.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.625;SOR=0.512	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	109405949	109405949	T	G	exonic	MYO1H	.	nonsynonymous SNV	MYO1H:NM_001101421:exon7:c.T829G:p.L277V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.176872912378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.904349	0.36249	D	3.615	0.93875	H	-3.63	0.95111	D	-2.03	0.46673	N	0.905	0.91162	1.056	0.98246	D	0.930	0.97686	D	9	0.9142549	0.90788	D	0.176873	0.85250	D	0.793	0.93188	0.761	0.88972	0.904799045233	0.90384	0.6315073198694297	0.63084	0.460900775349	0.45645	0.678636908531	0.64073	T	.	.	.	0.317372	0.84285	D	0.218107	0.84080	D	0.939339816570282	0.61071	D	0.978902	0.92647	D	.	.	.	.	.	.	.	.	-9.782	0.72595	D	.	.	0.304	0.54441	B	.;.	.;.	3.578059	0.50425	22.9	0.99787080170663711	0.87308	0.88015	0.47762	D	AEFDBI	0.621529	0.60619	D	0.372993332255595	0.59962	4.18034	0.209511604886479	0.50375	3.23016	0.00273485149282171	0.09669	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.03	0.34070	1.488000	0.35160	2.548000	0.33250	-0.203000	0.08628	0.999000	0.42656	1.000000	0.68203	0.930000	0.46718	0.0:0.8312:0.0:0.1688	10.069	0.41497	.	.	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	34	chr12	109405949	.	T	G	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.731;DP=792;ExcessHet=0;FS=2.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.269;SOR=0.495	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1356	18	0	1	0
chr12	109445539	109445541	AAG	-	exonic	MYO1H	.	nonframeshift deletion	MYO1H:NM_001101421:exon30:c.2972_2974del:p.E992del	.	437	1074	11	0	0	11	0.00509495	.	.	.	3393248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0002	0.0026	0	0	0.0010	0.0056	0.0013	0.0002689	7	26028	rs372231088	0.0007	0.0007	0.0006	0.0007	0.0096	0.0006	0.0006	0.0075	0.0068	0.0012	0.0023	7.665e-05	0	1.875e-05	0.0096	0.0006	0.0011	0.0009	0.0009	0.0009	0.0010	0.0009	0.0024	0.0008	0.0008	0.0017	0.0015	0.0005	0	0.0024	0	0	0	0.0238	0.0010	0.0047	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014113	0.015152	0.023098	0.000000	0.050000	0.008621	0.012270	0.003817	0.02632	1266.29	33	chr12	109445538	.	AAAG	A	1266.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.796;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.853;SOR=0.593	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr12	109768455	109768455	G	A	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.G526A:p.A176T	.	.	.	.	.	.	.	.	.	.	.	3665524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.046802724621	.	.	4.8e-05	0	9.154e-05	0	0.0004	1.776e-05	0	6.434e-05	3.23e-05	5	154602	rs772790721	2.346e-05	3.078e-05	1.511e-05	3.189e-05	0.0001	1.689e-05	1.49e-05	6.255e-05	4.763e-05	0	4.485e-05	0	0	0.0003	0	4.501e-06	9.976e-05	0.0001	2.627e-05	2.625e-05	2.571e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	9.416e-05	0	1.472e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.078	0.24389	B	0.007	0.12992	B	0.000001	0.62929	D	0.055638	0.686838	0.30228	N	0.77	0.19370	N	2.14	0.19450	T	1.44	0.00794	N	0.165	0.17416	-1.0013	0.29545	T	0.019	0.08173	T	10	0.033401847	0.01515	T	0.046803	0.62629	D	0.087	0.25287	.	.	0.0138822411134	0.00435	0.16168217647784475	0.16089	0.673678565086	0.59604	0.760765075684	0.76042	T	0.012188	0.10755	T	-0.382691	0.02996	T	-0.605339	0.12367	T	0.0866657271981239	0.10817	T	0.751425	0.37327	T	0.074088395	0.16602	0.100861475	0.24128	0.074088395	0.16602	0.100861475	0.24127	-4.598	0.32147	T	0.0547179020791725	0.01176	0.077	0.06433	B	.;.	.;.	2.414932	0.31045	18.62	0.99270174114218901	0.57525	0.59604	0.30961	D	AEFDBI	0.117890	0.23076	N	-0.613379334948914	0.18541	0.9634563	-0.466958771114331	0.23070	1.25622	0.919360472002967	0.26599	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	2.96	0.33383	1.565000	0.35993	5.400000	0.48508	0.526000	0.24426	0.482000	0.26816	1.000000	0.68203	0.405000	0.26894	0.2628:0.0:0.7372:0.0	4.616	0.11815	741	0.52966	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr12	109768455	.	G	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=696;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.325;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr12	109769020	109769020	C	T	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.C1091T:p.A364V	.	410	1109	3	0	0	3	0.00135074	.	.	.	2394894	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0953522004354	7.7e-05	.	0.0006	0	0	0.0005	0.0020	0.0011	0	0.0002	0.0002587	40	154602	rs377710576	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0002	0	2.625e-05	6.532e-05	0.0014	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0004	0.0005	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0	0	9.411e-05	0.0068	0.0005	0.0005	0.0004	0.183	0.21718	T	0.178	0.29639	T	0.296	0.32457	B	0.024	0.20255	B	0.012360	0.29204	N	0.355425	1	0.08975	N	1.7	0.43825	L	1.54	0.30133	T	-1.27	0.31981	N	0.192	0.21056	-1.0259	0.21788	T	0.044	0.19070	T	10	0.031275064	0.01260	T	0.095352	0.76413	D	0.071	0.20720	.	.	0.0297737177859	0.01360	0.379843303805573	0.37899	0.186199718407	0.20930	0.692582964897	0.66077	T	0.037692	0.24567	T	-0.457612	0.01017	T	-0.567144	0.15713	T	0.0262866104588757	0.01444	T	0.574643	0.20620	T	0.0849206	0.19678	0.14529562	0.34464	0.0849206	0.19677	0.14529562	0.34463	-4.982	0.36644	T	0.1245951310784436	0.12252	0.090	0.12512	B	.;.	.;.	1.682821	0.21443	15.20	0.98189190805331306	0.39018	0.20674	0.21127	N	AEFDBI	0.115847	0.22761	N	-0.639339127996617	0.17771	0.9173104	-0.65477874193357	0.18096	0.9652058	0.892954886750775	0.25895	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.18	3.22	0.36041	2.270000	0.43014	3.022000	0.36006	0.456000	0.21511	0.744000	0.29069	0.994000	0.32194	0.197000	0.21808	0.0:0.8252:0.1748:0.0	11.918	0.52058	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004061	0.000000	0.004098	0.005882	0.000000	0.000000	0.009202	0.000000	0.02632	986.33	34	chr12	109769020	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=718;ExcessHet=0;FS=4.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.63;SOR=1.329	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr12	109914565	109914565	C	T	exonic	TCHP	.	nonsynonymous SNV	TCHP:NM_001143852:exon11:c.C1258T:p.R420C,TCHP:NM_032300:exon11:c.C1258T:p.R420C	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0058	0.00579073	0.0019	0.0204	0.0013	0	0	6.136e-05	0	0	0.001727	267	154602	rs79799419	0.0005	0.0005	0.0006	0.0004	0.0165	0.0005	0.0004	0.0154	0.0149	0.0165	0.0013	0	0	0	0.0005	2.248e-05	0.0012	8.119e-05	0.0049	0.0049	0.0050	0.0047	0.0170	0.0046	0.0044	0.0160	0.0156	0.0170	0	0.0014	0	0	0	0	0.0001	0.0009	0	0.029	0.45756	D	0.015	0.61642	D	0.998	0.73220	D	0.761	0.56482	P	0.002641	0.36173	N	0.261420	0.999999	0.08975	N	2.62	0.76659	M	2.77	0.11407	T	-3.93	0.73267	D	0.454	0.49146	-1.0733	0.08702	T	0.022	0.09147	T	10	0.0065796375	0.00149	T	.	.	.	0.114	0.32008	.	.	0.259272394797	0.25527	0.24515751901373614	0.24429	0.449017913786	0.44711	0.231103748083	0.02051	T	0.359263	0.72569	T	-0.54199	0.00326	T	-0.537027	0.18589	T	0.0266760185806625	0.01498	T	0.90471	0.66491	D	0.19994262	0.41952	0.109121956	0.26296	0.19994262	0.41952	0.109121956	0.26296	-7.31	0.56267	T	.	.	0.108	0.20469	B	.;.	.;.	4.097266	0.61070	24.3	0.9985073760943588	0.93013	0.28941	0.23690	N	AEFGBHCI	0.141473	0.26365	N	0.0325288970503365	0.43340	2.628808	-0.113051148832053	0.34863	2.010264	0.969353986776802	0.29122	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.67	0.58089	1.501000	0.35301	3.980000	0.40897	0.599000	0.40250	0.001000	0.13787	0.269000	0.24035	0.017000	0.10941	0.1817:0.7286:0.0:0.0897	6.457	0.21139	577	0.69927	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1818.33	35	chr12	109914565	.	C	T	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.204;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,108,1620:.	18	0	1	0
chr12	110346405	110346405	A	G	exonic	ATP2A2	.	nonsynonymous SNV	ATP2A2:NM_170665:exon20:c.A3064G:p.I1022V	Acrokeratosis verruciformis, Autosomal dominant;Darier disease, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	1196093	ATP2A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0522981064482	0.0006	0.00119808	0.0010	0	0.0009	0	0	0.0007	0.0033	0.0034	0.0008085	125	154602	rs140234740	0.0005	0.0005	0.0005	0.0006	0.0029	0.0005	0.0005	0.0024	0.0023	0	0.0007	0	0	1.872e-05	0.0029	0.0004	0.0008	0.0027	0.0005	0.0005	0.0004	0.0005	0.0037	0.0004	0.0003	0.0024	0.0020	4.81e-05	0	0.0003	0	0	9.413e-05	0	0.0006	0.0009	0.0037	0.619	0.05325	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.003923	0.34318	N	0.351393	1	0.81001	D	0.695	0.17993	N	-3.38	0.94161	D	-0.08	0.08187	N	0.073	0.04668	-0.4858	0.69158	T	0.560	0.83956	D	9	0.0050418377	0.00109	T	0.052298	0.65013	D	0.257	0.56827	.	.	0.666493358032	0.66368	0.4309511518547669	0.43012	0.389368794045	0.40179	0.318109154701	0.13134	T	0.256222	0.62711	T	-0.35386	0.04490	T	-0.283493	0.46446	T	0.0298743736483675	0.01970	T	0.792121	0.43364	T	0.07554232	0.17026	0.041280497	0.04657	0.09638595	0.22701	0.035535995	0.02823	-3.132	0.11668	T	.	.	0.060	0.00964	B	.	.	1.718582	0.21882	15.39	0.89262801978036976	0.18648	0.86448	0.45730	D	AEFBCI	0.390889	0.46954	N	-0.371737250377401	0.26480	1.445551	-0.154932614662954	0.33219	1.897941	0.999910516201505	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	3.75	0.42236	2.599000	0.45895	3.210000	0.36796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8458:0.0:0.1542:0.0	9.163	0.36198	235	0.90838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	1227.33	44	chr12	110346405	.	A	G	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=733;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.197;SOR=1.047	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	18	0	1	0
chr12	110436187	110436187	A	C	exonic	ARPC3	.	nonsynonymous SNV	ARPC3:NM_001278556:exon6:c.T397G:p.L133V,ARPC3:NM_001287222:exon6:c.T394G:p.L132V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0165905275638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.028	0.54934	D	0.009	0.15093	B	0.073	0.28123	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	-1.78	0.42001	N	0.678	0.68516	-0.5401	0.67159	T	0.319	0.68830	T	9	0.5373776	0.63525	D	0.016591	0.37919	T	0.288	0.60691	0.757	0.88648	0.841293644664	0.83977	0.5913887710929902	0.59068	0.125980353182	0.14199	0.744554877281	0.73642	T	0.328879	0.69924	T	0.29243	0.82355	D	0.182279	0.82127	D	0.353996932506561	0.27174	T	0.892111	0.62800	D	0.5802201	0.71620	0.26942357	0.52822	0.5802201	0.71621	0.26942357	0.52821	-4.204	0.26809	T	.	.	0.398	0.59488	A	.;.	.;.	2.874741	0.38022	20.6	0.98501386450098494	0.42228	0.90439	0.51616	D	AEBI	0.450576	0.50491	N	-0.164200607164518	0.34633	1.979144	-0.114874717863959	0.34789	2.005213	0.982646389966234	0.30432	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.83	0.722	0.17379	1.978000	0.40221	4.101000	0.41864	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.4453:0.0:0.5547:0.0	12.477	0.55158	229	0.91079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	38	chr12	110436187	.	A	C	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.339;DP=753;ExcessHet=0;FS=5.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.534;SOR=0.353	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr12	110487913	110487913	A	G	exonic	FAM216A	.	nonsynonymous SNV	FAM216A:NM_013300:exon6:c.A673G:p.R225G	.	442	1054	25	1	0	27	0.0126464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0059	0.00379393	0.0058	0.0009	0.0016	0	0.0044	0.0088	0.0033	0.0038	0.0059572	921	154602	rs17188964	0.0079	0.0081	0.0079	0.0079	0.0139	0.0078	0.0077	0.0115	0.0106	0.0014	0.0022	0.0091	0	0.0051	0.0139	0.0090	0.0074	0.0041	0.0055	0.0055	0.0061	0.0049	0.0092	0.0052	0.0051	0.0086	0.0084	0.0012	0.0077	0.0042	0.0110	0	0.0028	0.0034	0.0092	0.0052	0.0035	0.004	0.65419	D	0.011	0.64786	D	0.965	0.56013	D	0.638	0.52030	P	0.055943	0.22600	N	0.323153	1	0.81001	D	1.04	0.26193	L	0.66	0.52416	T	-2.61	0.56144	D	0.236	0.26596	-1.0503	0.14313	T	0.057	0.23980	T	10	0.0070593655	0.00160	T	.	.	.	0.243	0.54921	.	.	0.402043589563	0.39814	0.21282060999458166	0.21198	0.177609951616	0.19982	0.311449468136	0.12126	T	0.111858	0.42768	T	-0.3221	0.06727	T	-0.228059	0.51959	T	0.0293136584605625	0.01885	T	0.762924	0.38892	T	0.15291925	0.34689	0.18153362	0.41023	0.15291925	0.34689	0.18153362	0.41022	-4.597	0.32134	T	.	.	0.204	0.42962	B	.	.	3.503975	0.49039	22.7	0.99829362642417319	0.91112	0.67799	0.33564	D	AEFBI	0.243090	0.36442	N	0.188194027518038	0.50632	3.251376	0.207468649649226	0.50260	3.220038	0.0107675638402065	0.12078	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.28	0.36691	0.794000	0.26619	5.137000	0.47688	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.7556:0.2444:0.0:0.0	7.402	0.26141	268	0.89479	.	GIT2|FAM109A	Spleen|Stomach	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.000000	0.008152	0.020468	0.000000	0.000000	0.012195	0.011364	0.02632	880.33	33	chr12	110487913	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.017;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	18	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	52.49	127	chr12	110628923	.	G	A	52.49	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.06;DP=1353;ExcessHet=0.119;FS=220.054;InbreedingCoeff=-0.0783;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=0.166;SOR=8.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	15	0	2	2
chr12	110893088	110893088	C	G	exonic	CCDC63	.	nonsynonymous SNV	CCDC63:NM_001286244:exon7:c.C850G:p.L284V,CCDC63:NM_001286243:exon8:c.C967G:p.L323V,CCDC63:NM_152591:exon9:c.C1087G:p.L363V	.	423	1098	1	0	0	1	0.000455166	.	.	.	3943333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00447020543154	7.7e-05	0.000199681	9.946e-05	0.0002	8.705e-05	0	0	0.0001	0	0	0.0001229	19	154602	rs201067506	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	5.974e-05	4.472e-05	0	0	0	0	0.0003	0.0003	0	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.572e-05	6.278e-05	0.0001	0.0001	7.217e-05	0	0	0	0	0	0	0.0002	0	0	0.507	0.07594	T	0.497	0.11299	T	0.435	0.35719	B	0.086	0.29521	B	0.551298	0.05371	N	1.231310	1	0.08975	N	1.995	0.54099	M	2.0	0.21473	T	-0.55	0.17417	N	0.215	0.24010	-1.0180	0.24366	T	0.033	0.14073	T	10	0.03448084	0.01658	T	0.00447	0.10969	T	0.025	0.05312	.	.	0.0482279557977	0.04254	0.4035438187293395	0.40270	0.0611966656962	0.06815	0.215269953012	0.01055	T	0.004897	0.14257	T	-0.505941	0.00529	T	-0.695226	0.06090	T	0.0113412470815832	0.00168	T	0.567543	0.20130	T	0.046836838	0.07908	0.03297778	0.02118	0.046836838	0.07907	0.03297778	0.02117	-3.972	0.23383	T	.	.	0.060	0.02065	B	.;.;.	.;.;.	-0.343195	0.02434	0.276	0.3847471409760318	0.02597	0.04165	0.09659	N	AEFDBHCIJ	0.057606	0.10746	N	-0.859783412590427	0.11809	0.5720133	-0.941205213778738	0.11127	0.5650021	0.99952547296387	0.40175	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.631631	0.49550	0	.	.	5.47	0.203	0.14472	-0.380000	0.07484	-1.270000	0.05855	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.1709:0.4:0.1549:0.2742	0.863	0.01122	150	0.94078	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2281.33	33	chr12	110893088	.	C	G	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.762;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.885;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr12	111363334	111363334	C	T	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.G94A:p.A32T,PHETA1:NM_144671:exon3:c.G94A:p.A32T,PHETA1:NM_001177996:exon4:c.G133A:p.A45T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0073	0.00978435	0.0025	0.0260	0.0020	0	0	0.0002	0.0012	0	0.0023997	371	154602	rs61745698	0.0008	0.0008	0.0009	0.0007	0.0235	0.0008	0.0007	0.0222	0.0216	0.0235	0.0023	0.0019	0	1.904e-05	0.0014	0.0001	0.0017	2.319e-05	0.0072	0.0072	0.0071	0.0074	0.0240	0.0069	0.0067	0.0228	0.0223	0.0240	0	0.0045	0.0023	0	0	0	0.0002	0.0066	0	0.422	0.14894	T	0.79	0.09205	T	0.16	0.28337	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	-0.89	0.01422	N	1.58	0.29085	T	1.33	0.01263	N	0.068	0.05414	-0.9975	0.30618	T	0.007	0.02321	T	9	0.0028662086	0.00046	T	.	.	.	0.032	0.07718	.	.	0.234412748748	0.23057	0.17446614450392645	0.17365	0.485688750366	0.47441	0.431137412786	0.29363	T	0.090649	0.48470	T	-0.535327	0.00357	T	-0.52214	0.20077	T	0.0149658262908538	0.00320	T	0.759724	0.39853	T	0.020514213	0.00613	0.0409078	0.04529	0.020514213	0.00612	0.0409078	0.04529	-2.011	0.06168	T	.	.	0.085	0.10545	B	.;.;.;.;.	.;.;.;.;.	1.224682	0.16187	12.38	0.60034275564114814	0.06366	0.23424	0.22071	N	AEFDBI	0.018167	0.00530	N	-0.8631371266134	0.11728	0.5675913	-0.745718706185196	0.15828	0.8343487	0.999352280442449	0.39259	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.662433	0.64102	0	.	.	4.59	0.981	0.18875	1.612000	0.36501	0.292000	0.16883	0.511000	0.23309	1.000000	0.71638	0.040000	0.21562	0.931000	0.46843	0.0:0.291:0.2416:0.4674	2.913	0.05389	624	0.65661	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1987.33	39	chr12	111363334	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=799;ExcessHet=0;FS=4.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.537;SOR=1.069	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr12	111518261	111518261	C	T	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310123:exon7:c.G766A:p.V256I,ATXN2:NM_001310121:exon9:c.G838A:p.V280I,ATXN2:NM_001372574:exon9:c.G1153A:p.V385I,ATXN2:NM_002973:exon9:c.G1153A:p.V385I	Spinocerebellar ataxia 2, Autosomal dominant	3	1511	8	0	0	8	0.00264026	.	.	.	3294104	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0273601925724	0.0002	0.000399361	0.0002	9.617e-05	0	0	0	0.0003	0	0.0002	0.0002329	36	154602	rs145810958	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0004	0.0004	0.0022	2.531e-05	0	0.0078	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0017	0.0015	0.0001	0	0.0024	0.0014	0	0	0.0170	0.0001	0.0005	0.0002	0.027	0.46513	D	0.257	0.35710	T	0.595	0.68779	P	0.192	0.77487	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.16	0.66113	T	-0.45	0.15178	N	0.606	0.67132	-0.7036	0.60266	T	0.276	0.64814	T	10	0.053849548	0.05640	T	0.02736	0.50178	D	0.255	0.56562	.	.	0.452650218784	0.44890	0.18625792326796123	0.18543	1.03974101562	0.75753	0.684398651123	0.64900	T	0.021121	0.53836	T	-0.266444	0.12156	T	-0.271073	0.47712	T	0.167464181780815	0.18406	T	0.838616	0.51177	T	0.12865596	0.30073	0.098489664	0.23482	0.16320188	0.36445	0.12748422	0.30686	-3.988	0.23624	T	.	.	0.114	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.569641	0.72080	25.8	0.98688761620608934	0.44723	0.98786	0.86836	D	AEFBI	0.822352	0.74270	D	0.143729654188245	0.48515	3.062858	0.195016708105032	0.49572	3.158892	0.999912651260418	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	4.27	0.50009	7.286000	0.78031	7.669000	0.64672	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1437:0.8563:0.0:0.0	15.012	0.71214	599	0.68140	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.009567	0.010101	0.019022	0.020468	0.000000	0.000000	0.000000	0.000000	0.02632	400.33	34	chr12	111518261	.	C	T	400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=0.26;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr12	111552929	111552929	C	G	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310121:exon4:c.G82C:p.V28L,ATXN2:NM_001372574:exon4:c.G397C:p.V133L,ATXN2:NM_002973:exon4:c.G397C:p.V133L	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.0397421559068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.426e-06	1.232e-05	2.837e-06	0	3.385e-05	2.4e-07	9e-08	.	.	3.385e-05	0	0	0	0	0	9.189e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.61437	T	0.087	0.55759	T	0.997	0.70673	D	0.992	0.80445	D	0.000003	0.62929	D	0.059312	1	0.81001	D	2.24	0.63355	M	-0.33	0.68329	T	-1.68	0.41428	N	0.83	0.83576	-0.2033	0.77585	T	0.491	0.80688	T	10	0.67609	0.70999	D	0.039742	0.58985	D	0.380	0.69780	0.505	0.59924	0.825217495053	0.82356	0.7713337216581438	0.77083	1.15038008037	0.79184	0.794623911381	0.81146	T	0.052332	0.65964	T	0.307985	0.83592	D	0.204622	0.83379	D	0.904729843139648	0.55827	D	0.974702	0.91007	D	0.19244559	0.40914	0.24502485	0.49982	0.19244559	0.40914	0.24502485	0.49981	-10.223	0.75235	D	.	.	0.919	0.87304	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.155612	0.62368	24.4	0.99786913010304568	0.87308	0.98716	0.85943	D	AEFBI	0.781317	0.71293	D	0.816527677297231	0.87129	9.112415	0.818698944594814	0.91060	10.69996	0.999999998719661	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	5.251000	0.65257	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.323	0.98685	609	0.67094	Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain;Ataxin 2, SM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.35	33	chr12	111552929	.	C	G	36.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.475;DP=1003;ExcessHet=0;FS=288.902;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.17;SOR=8.955	GT:AD:DP:GQ:PL	0/0:36,0:36:23:0,23,634	18	0	1	0
chr12	111598972	111598972	-	TGT	exonic	ATXN2	.	nonframeshift insertion	ATXN2:NM_001372574:exon1:c.62_63insACA:p.Q28_P29insQ,ATXN2:NM_002973:exon1:c.62_63insACA:p.Q28_P29insQ	Spinocerebellar ataxia 2, Autosomal dominant	66	1447	1	0	8	9	0.000345423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.0003074	8	26028	rs769170503	0.0010	0.0017	0.0009	0.0010	0.0031	0.0009	0.0009	0.0026	0.0024	0.0031	0.0023	0.0021	0.0008	0.0008	0.0020	0.0008	0.0013	0.0017	0.0033	0.0036	0.0038	0.0029	0.0064	0.0031	0.0030	0.0058	0.0055	0.0064	0	0.0028	0.0039	0.0025	0.0007	0	0.0023	0.0025	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	60.29	33	chr12	111598972	.	C	CTGT	60.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=0;QD=4.02;ReadPosRankSum=-1.374;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	18	0	1	0
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1288.21	33	chr12	111598975	.	C	*	1288.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.823;DP=822;ExcessHet=0.0101;FS=5.564;InbreedingCoeff=0.4409;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.12;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	17	0	2	0
chr12	111598977	111598981	GTTGC	-	exonic	ATXN2	.	frameshift deletion	ATXN2:NM_001372574:exon1:c.54_58del:p.Q19Afs*69,ATXN2:NM_002973:exon1:c.54_58del:p.Q19Afs*69	Spinocerebellar ataxia 2, Autosomal dominant	79	1408	23	0	12	35	0.00810144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0111	0	0	0.0015	0	0.0024	0.0001153	3	26028	rs767766545	0.0012	0.0064	0.0012	0.0012	0.0037	0.0011	0.0011	0.0029	0.0027	0.0014	0.0027	0.0040	0.0034	0.0006	0.0037	0.0009	0.0017	0.0019	0.0013	0.0016	0.0013	0.0013	0.0026	0.0012	0.0011	0.0016	0.0012	0.0010	0	0.0014	0.0087	0.0026	0	0	0.0012	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.78	33	chr12	111598976	.	TGTTGC	T	588.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=829;ExcessHet=0.119;FS=4.208;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.997;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	18	0	1	0
chr12	111598977	111598993	GTTGCTGCTGCTGCTGC	-	exonic	ATXN2	.	frameshift deletion	ATXN2:NM_001372574:exon1:c.42_58del:p.Q15Afs*69,ATXN2:NM_002973:exon1:c.42_58del:p.Q15Afs*69	Spinocerebellar ataxia 2, Autosomal dominant	79	1408	23	0	12	35	0.00810144	.	.	.	3203406	ATXN2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0	0	0	0	0.0011	0	0.0022	7.68e-05	2	26028	rs759304594	0.0024	0.0038	0.0024	0.0024	0.0065	0.0023	0.0023	0.0057	0.0054	0.0046	0.0011	0.0004	0.0065	0.0014	0.0013	0.0024	0.0023	0.0018	0.0037	0.0037	0.0038	0.0035	0.0053	0.0034	0.0033	0.0047	0.0045	0.0053	0	0.0029	0.0012	0.0032	0.0010	0	0.0037	0.0048	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.78	33	chr12	111598976	.	TGTTGCTGCTGCTGCTGC	T	588.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=829;ExcessHet=0.119;FS=4.208;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.997;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	18	0	1	0
chr12	111598978	111598978	T	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2343.5	33	chr12	111598978	.	T	*	2343.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.248;DP=853;ExcessHet=0.3441;FS=3.441;InbreedingCoeff=0.1244;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=0;QD=12.53;ReadPosRankSum=0.74;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	17	0	2	0
chr12	111598992	111598993	GC	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	86	1391	38	2	5	47	0.0148725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	54.42	32	chr12	111598992	.	GC	*	54.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.128;DP=815;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0839;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.381;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:34,0:36:38:0|1:111598949_GGCT_G:0,102,1504:111598949	18	0	1	0
chr12	111598993	111598993	-	TGCTGCTGCTGCTGCTGCTGT	exonic	ATXN2	.	nonframeshift insertion	ATXN2:NM_001372574:exon1:c.41_42insACAGCAGCAGCAGCAGCAGCA:p.Q28_P29insQQQQQQQ,ATXN2:NM_002973:exon1:c.41_42insACAGCAGCAGCAGCAGCAGCA:p.Q28_P29insQQQQQQQ	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	4.393e-05	2.818e-05	2.591e-05	0.0002	1.981e-05	1.758e-05	1.249e-05	1.015e-05	0	0	0	3.215e-05	0.0001	0.0002	1.913e-05	0.0001	4.029e-05	7.354e-05	7.91e-05	6.534e-05	8.212e-05	0.0002	4.038e-05	3.176e-05	4.857e-05	3.132e-05	0.0001	0	0	0	0.0002	9.747e-05	0	5.93e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15440.0	33	chr12	111598993	.	C	CTGCTGCTGCTGCTGCTGCTGT	15440.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=844;ExcessHet=7.7183;FS=1.872;InbreedingCoeff=-0.3571;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0;QD=21.9;ReadPosRankSum=0.258;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:35:38:1|1:111598949_GGCT_G:1985,1714,1744:111598949	18	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15440.0	33	chr12	111598993	.	C	*	15440.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.703;DP=844;ExcessHet=7.7183;FS=1.872;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0;QD=21.9;ReadPosRankSum=0.258;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,2:35:38:1|1:111598949_GGCT_G:1985,1305,1433:111598949	17	0	2	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	99.78	52	chr12	111702254	.	G	C	99.78	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.271;DP=966;ExcessHet=0.3672;FS=437.102;InbreedingCoeff=-0.1794;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.741;SOR=9.19	GT:AD:DP:GQ:PL	./.:47,0:47:0:0,0,770	11	0	3	5
chr12	111729836	111729836	G	A	exonic	ACAD10	.	stopgain	ACAD10:NM_025247:exon10:c.G1274A:p.W425X,ACAD10:NM_001136538:exon11:c.G1367A:p.W456X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.076e-05	0	0	0	0	7.508e-05	0	0.0004	7.12e-05	11	154602	rs199879065	6.02e-05	6.02e-05	3.948e-05	8.113e-05	0.0004	4.961e-05	4.626e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0.0002	3.777e-05	9.935e-05	0.0004	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.554e-05	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.059699	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.345	0.40864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387397	0.89171	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.305369	0.98750	40	0.99364516249098822	0.61155	0.94985	0.63021	D	AEFBI	0.061599	0.11787	N	0.776700428194037	0.84631	8.341643	0.61920134202971	0.76333	6.472086	0.993850986966993	0.33383	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	5.666000	0.67729	9.532000	0.80949	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:0.0:1.0:0.0	18.685	0.91519	485	0.77085	Aminoglycoside phosphotransferase;.;Aminoglycoside phosphotransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1913.33	34	chr12	111729836	.	G	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=779;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-2.544;SOR=0.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr12	112908758	112908758	G	C	exonic	OAS1	.	nonsynonymous SNV	OAS1:NM_001032409:exon2:c.G403C:p.V135L,OAS1:NM_001320151:exon2:c.G403C:p.V135L,OAS1:NM_002534:exon2:c.G403C:p.V135L,OAS1:NM_016816:exon2:c.G403C:p.V135L	.	.	.	.	.	.	.	.	.	.	.	3795786	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.040	0.00540841206022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.38863	T	0.118	0.39492	T	0.218	0.38765	B	0.079	0.35598	B	0.002372	0.00882	N	3.127030	1	0.08975	N	2.4	0.69460	M	3.17	0.07599	T	-0.77	0.25332	N	0.156	0.20793	-0.9910	0.32347	T	0.038	0.16591	T	10	0.09126073	0.15970	T	0.005408	0.13893	T	0.040	0.10527	0.483	0.56462	0.163833314356	0.15978	0.2404507997707288	0.23959	0.0670847127175	0.07489	0.298030048609	0.10109	T	0.058044	0.30734	T	-0.299933	0.08667	T	-0.66861	0.07697	T	0.17577853423284	0.18965	T	0.552645	0.22725	T	0.12747319	0.29830	0.06511077	0.13150	0.12747319	0.29829	0.06511077	0.13150	-5.291	0.40611	T	.	.	0.156	0.40984	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.518890	0.01808	0.141	0.91032557023716598	0.20283	0.04893	0.10639	N	AEFDBCI	.	.	.	-0.83054440499531	0.12534	0.6115645	-1.0041014899417	0.09695	0.4838151	0.99996690412735	0.48965	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.31	-2.06	0.06894	-1.266000	0.02950	-3.841000	0.02502	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.5205:0.1741:0.3054:0.0	4.653	0.11988	91	0.96221	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1989.33	33	chr12	112908758	.	G	C	1989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=778;ExcessHet=0;FS=2.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-2.436;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1322	18	0	1	0
chr12	112987143	112987143	C	T	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_001032731:exon2:c.C283T:p.R95C,OAS2:NM_002535:exon2:c.C283T:p.R95C,OAS2:NM_016817:exon2:c.C283T:p.R95C	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0231806798123	7.7e-05	.	4.119e-05	0.0002	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs371487128	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	2.662e-05	0.0001	2.236e-05	0	0	0	0.0003	8.993e-06	9.934e-05	8.115e-05	3.286e-05	3.283e-05	2.569e-05	4.036e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.054	0.40068	T	0.093	0.44702	T	0.9	0.51285	P	0.2	0.44752	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	3.09	0.08371	T	-0.74	0.35194	N	0.198	0.24010	-0.9985	0.30339	T	0.014	0.05417	T	9	0.05977595	0.07239	T	0.023181	0.46126	T	0.050	0.13987	.	.	0.300110245524	0.29617	0.17804423107542441	0.17723	0.377942332906	0.39216	0.235299155116	0.02383	T	0.039786	0.25308	T	-0.481047	0.00729	T	-0.692098	0.06268	T	0.0386309996247292	0.03444	T	0.667533	0.42156	T	0.14893086	0.33977	0.04725113	0.06766	0.14893086	0.33976	0.04725113	0.06765	-4.531	0.41989	T	.	.	0.139	0.31431	B	.;.;.;.	.;.;.;.	0.333745	0.07076	3.646	0.99649306447089536	0.77192	0.03453	0.08599	N	AEFGBI	0.052818	0.09463	N	-0.78084680591607	0.13810	0.6830345	-0.944924840361482	0.11041	0.5600496	0.997750775963546	0.35989	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.85	-0.637	0.10926	-1.564000	0.02256	-6.737000	0.01319	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1767:0.3719:0.3453:0.1061	2.679	0.04774	182	0.92924	2-5-oligoadenylate synthetase, N-terminal;.;.;2-5-oligoadenylate synthetase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1357.33	35	chr12	112987143	.	C	T	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=1229;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.14;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr12	113115652	113115652	C	T	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon10:c.G986A:p.R329H,RASAL1:NM_001301202:exon10:c.G986A:p.R329H,RASAL1:NM_001193520:exon11:c.G986A:p.R329H,RASAL1:NM_004658:exon11:c.G986A:p.R329H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.101491538539	.	0.000199681	4.205e-05	0	0.0004	0	0	0	0	6.196e-05	3.88e-05	6	154602	rs546480514	8.897e-06	8.893e-06	8.171e-06	9.63e-06	0.0001	4.96e-06	3.83e-06	4.359e-05	2.767e-05	0	0.0001	0	2.519e-05	0	0	4.497e-06	0	2.32e-05	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.53e-05	0	0	0	0	0	0	0.0002	0.24	0.27783	T	0.152	0.32249	T	0.999	0.90584	D	0.954	0.70309	D	0.000005	0.62929	D	0.061943	0.999403	0.46935	D	2.11	0.58565	M	-1.33	0.79854	T	-2.06	0.47175	N	0.458	0.50056	-0.1495	0.78928	T	0.563	0.84101	D	10	0.46016693	0.59235	T	0.101492	0.77440	D	0.470	0.76421	0.582	0.70861	0.90961705582	0.90871	0.38360002823612904	0.38275	1.06917988701	0.76748	0.472148776054	0.34976	T	0.155653	0.49747	T	-0.140845	0.29756	T	-0.170791	0.57370	T	0.748820841312408	0.43219	D	0.864214	0.56114	D	0.23122378	0.45890	0.17794445	0.40430	0.23122378	0.45890	0.17794445	0.40430	-7.174	0.56174	T	0.2825105298324076	0.37803	0.135	0.34906	B	.;.;.;.	.;.;.;.	4.894677	0.80401	27.3	0.99945752860819903	0.99901	0.98116	0.79734	D	AEFDGBI	0.666595	0.63500	D	0.427884373665948	0.62962	4.520912	0.448148021171393	0.64596	4.718664	0.9999999960223	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	3.013000	0.49270	3.921000	0.40471	0.549000	0.26987	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	17.817	0.88551	679	0.60090	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain|RASAL, RasGAP domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	32.33	52	chr12	113115652	.	C	T	32.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.224;DP=889;ExcessHet=0;FS=21.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.02;SOR=4.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	18	0	1	0
chr12	113174753	113174753	G	A	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon10:c.C955T:p.R319W,DDX54:NM_024072:exon10:c.C955T:p.R319W	.	421	1100	1	0	0	1	0.000454339	.	.	.	2291355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.604	0.0582221198356	.	.	5.806e-05	0	8.657e-05	0	0.0005	4.52e-05	0	0	4.53e-05	7	154602	rs199610294	2.947e-05	3.01e-05	2.453e-05	3.447e-05	0.0002	2.22e-05	1.973e-05	9.33e-06	7.63e-06	0	2.238e-05	3.831e-05	0	0.0004	0.0002	1.532e-05	1.66e-05	1.16e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.409e-05	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.835	0.82492	M	2.74	0.11730	T	-6.08	0.89910	D	0.903	0.90363	-0.6806	0.61345	T	0.157	0.48891	T	10	0.8269017	0.81867	D	0.058222	0.67243	D	0.604	0.84398	.	.	0.447609009685	0.44385	0.7948707330897274	0.79440	1.05832423389	0.76393	0.70555472374	0.67948	T	0.204511	0.56330	T	0.187085	0.72695	D	0.113823	0.77825	D	0.882790505886078	0.53292	D	0.822218	0.48193	T	0.78640455	0.83050	0.6613684	0.80157	0.78640455	0.83051	0.6613684	0.80158	-11.025	0.79796	D	.	.	0.245	0.47976	B	.;.	.;.	5.674346	0.92956	33	0.99910975314411177	0.98022	0.97817	0.77351	D	ALL	0.929961	0.91652	D	0.925262877913125	0.92941	11.72251	0.828068995522983	0.91673	11.00751	0.999999999999999	0.74766	0.712529	0.81865	0	0.67197	0.64623	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.33	5.33	0.75683	9.822000	0.98298	7.470000	0.59142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.612	0.91246	724	0.55085	.;Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1453.33	34	chr12	113174753	.	G	A	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.009;DP=725;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.501;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	18	0	1	0
chr12	113358755	113358755	A	G	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon1:c.A155G:p.D52G,PLBD2:NM_173542:exon1:c.A155G:p.D52G	.	438	1059	22	3	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0021	0.00459265	0.0177	0	0	0	0	0.0264	0	0.0206	0.0018564	287	154602	rs200189038	0.0058	0.0055	0.0056	0.0061	0.0157	0.0057	0.0057	0.0149	0.0145	0.0004	0.0031	0.0129	0	0.0028	0.0105	0.0056	0.0058	0.0157	0.0045	0.0045	0.0043	0.0047	0.0162	0.0042	0.0041	0.0133	0.0122	0.0010	0	0.0039	0.0130	0.0004	0.0018	0.0137	0.0062	0.0047	0.0162	0.283	0.17069	T	0.496	0.12704	T	0.0	0.02946	B	0.001	0.04355	B	0.047936	0.01979	N	2.507700	1	0.08975	N	0.29	0.10111	N	2.23	0.18083	T	-0.01	0.07155	N	0.058	0.02964	-1.0125	0.26133	T	0.021	0.08686	T	10	0.0035566092	0.00064	T	.	.	.	0.052	0.14661	.	.	0.0920862733494	0.08535	0.33637053039387116	0.33550	0.470108560931	0.46299	0.632033109665	0.57433	T	0.004557	0.03968	T	-0.713791	0.00030	T	-0.792961	0.02084	T	0.00700592945269222	0.00080	T	0.272373	0.04609	T	0.11113813	0.26266	0.05130903	0.08232	0.11113813	0.26266	0.05130903	0.08232	-2.822	0.08388	T	.	.	0.059	0.00820	B	.;.	.;.	0.241555	0.06217	2.669	0.8070310520174433	0.13328	0.03588	0.08809	N	ALL	0.035199	0.04490	N	-1.25460861235835	0.04239	0.190929	-1.27970032880337	0.04705	0.2225803	0.999999999999881	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.28	-0.459	0.11571	-0.179000	0.09761	-0.178000	0.11160	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5822:0.0:0.4178:0.0	5.786	0.17597	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005624	0.012195	0.000000	0.003125	0.000000	0.030000	0.027778	0.000000	0.02632	831.33	38	chr12	113358755	.	A	G	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.632;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.449;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,952:.	18	0	1	0
chr12	113387880	113387880	C	T	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon10:c.C1480T:p.R494C,PLBD2:NM_173542:exon11:c.C1576T:p.R526C	.	.	.	.	.	.	.	.	.	.	.	2337746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.607	0.218825007593	7.7e-05	.	5.768e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs145022094	3.625e-05	3.625e-05	3.675e-05	3.575e-05	0.0007	2.828e-05	2.565e-05	0.0005	0.0004	0.0007	6.708e-05	0	0	0	0.0002	1.259e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0002	0	0	0	0	1.47e-05	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999754	0.48800	D	3.45	0.92227	M	2.17	0.19020	T	-7.01	0.93764	D	0.891	0.92433	-0.6262	0.63731	T	0.180	0.52736	T	10	0.94950473	0.94283	D	0.218825	0.87677	D	0.607	0.84559	.	.	0.494232246516	0.49056	0.8996539834796611	0.89937	1.348062469	0.84020	0.578986823559	0.49943	T	0.159276	0.50265	T	-0.0209034	0.48725	T	0.0963601	0.76666	D	0.885174334049225	0.53548	D	0.974103	0.91418	D	0.5632241	0.70688	0.47274005	0.69435	0.5632241	0.70689	0.47274005	0.69436	-9.963	0.73690	D	.	.	0.391	0.59039	A	.;.	.;.	5.258686	0.88295	29.5	0.99933785547088949	0.99488	0.97828	0.77433	D	AEFDBI	0.648543	0.62332	D	0.6783880106647	0.78214	6.827134	0.57069917534058	0.72849	5.875087	0.00829195939589547	0.11648	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.93	3.99	0.45527	2.538000	0.45369	5.931000	0.51320	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.2469:0.753:0.0:0.0	14.023	0.64089	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1565.33	35	chr12	113387880	.	C	T	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.029;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1369	18	0	1	0
chr12	113437894	113437894	C	T	exonic	SDSL	.	nonsynonymous SNV	SDSL:NM_001304993:exon8:c.C805T:p.R269C,SDSL:NM_138432:exon9:c.C805T:p.R269C	.	.	.	.	.	.	.	.	.	.	.	3310553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.804	0.403040390525	7.7e-05	.	6.078e-05	9.794e-05	0	0	0	9.215e-05	0	0	5.17e-05	8	154602	rs201500836	3.441e-05	3.489e-05	3.422e-05	3.459e-05	9.066e-05	2.647e-05	2.389e-05	2.837e-05	2.515e-05	9.066e-05	0	0	2.528e-05	0	0	3.789e-05	3.335e-05	2.353e-05	3.941e-05	3.94e-05	2.568e-05	5.379e-05	7.236e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000311	0.45977	D	0.147724	0.99999	0.58761	D	3.885	0.96017	H	-4.16	0.96826	D	-6.32	0.90852	D	0.696	0.73826	1.067	0.98522	D	0.952	0.98429	D	10	0.97514284	0.97253	D	0.40304	0.93438	D	0.804	0.93621	.	.	0.854971528788	0.85356	0.6046161801998249	0.60392	0.198190742643	0.22196	0.514321923256	0.40828	T	0.779089	0.94152	D	0.0884539	0.63014	D	0.12595	0.78627	D	0.993161082267761	0.83858	D	0.959004	0.84537	D	0.90415365	0.91757	0.8068393	0.88700	0.90415365	0.91758	0.8068393	0.88701	-9.086	0.68248	D	.	.	0.217	0.46061	B	.;.	.;.	5.235224	0.87878	29.4	0.9992364556025275	0.98917	0.85017	0.44117	D	AEFDBI	0.789560	0.71871	D	0.576425273647234	0.71705	5.69167	0.406699117087261	0.61980	4.40624	4.92382484656185E-4	0.07150	0.693126	0.56070	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.12	3.15	0.35301	0.212000	0.17289	1.420000	0.26356	0.576000	0.29215	0.932000	0.32345	1.000000	0.68203	0.654000	0.32802	0.1685:0.8315:0.0:0.0	12.43	0.54905	889	0.27310	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	35	chr12	113437894	.	C	T	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=692;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.537;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr12	113962333	113962333	T	C	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon2:c.A118G:p.K40E,RBM19:NM_001146699:exon2:c.A118G:p.K40E,RBM19:NM_016196:exon2:c.A118G:p.K40E	.	428	1092	2	0	0	2	0.000914913	.	.	.	2354809	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.0122823536657	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0002	0.0001358	21	154602	rs145566044	8.893e-05	8.893e-05	8.576e-05	9.213e-05	0.0005	7.622e-05	7.167e-05	0.0001	9.45e-05	5.974e-05	4.472e-05	0	0	0	0.0005	8.723e-05	0.0002	0.0002	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0002	2.555e-05	1.828e-05	3.761e-05	2.575e-05	0	0	6.533e-05	0	0	0	0	8.819e-05	0	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.936	0.52359	P	0.685	0.53610	P	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	1.685	0.43254	L	2.25	0.17761	T	-3.62	0.69593	D	0.574	0.59986	-1.1245	0.02065	T	0.072	0.29163	T	10	0.27903348	0.45475	T	0.012282	0.30711	T	0.168	0.42943	.	.	0.243972157842	0.24002	0.7121516131403541	0.71157	0.661331589679	0.58920	0.67149502039	0.63051	T	0.211404	0.57216	T	-0.275003	0.11205	T	-0.340651	0.40272	T	0.372308373451233	0.27886	T	0.935406	0.75832	D	0.71601653	0.78940	0.69638664	0.82122	0.71601653	0.78942	0.69638664	0.82123	-15.022	0.95903	D	.	.	0.284	0.51832	B	.;.;.	.;.;.	4.314340	0.65983	24.9	0.99850774106828566	0.93013	0.96009	0.67122	D	AEFDGBCI	0.650774	0.62476	D	0.422117257306333	0.62639	4.483232	0.406214478372726	0.61952	4.402708	0.99999999989349	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	3.9	0.44240	5.666000	0.67729	6.062000	0.53180	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1451:0.8549	11.976	0.52381	946	0.12043	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 1;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2703.33	33	chr12	113962333	.	T	C	2703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.99;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.128;SOR=0.678	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1362	18	0	1	0
chr12	114672059	114672059	C	G	exonic	TBX3	.	nonsynonymous SNV	TBX3:NM_005996:exon7:c.G1954C:p.G652R,TBX3:NM_016569:exon8:c.G2014C:p.G672R	Ulnar-mammary syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.247492404039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367860375	1.409e-06	2.052e-06	2.788e-06	0	9.165e-07	2.3e-07	9e-08	.	.	0	0	0	0	2.024e-05	0	9.165e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43085	D	0.354	0.17268	T	0.908	0.50127	P	0.679	0.53442	P	0.000004	0.00162	N	5.296580	0.989815	0.41028	D	1.83	0.48079	L	-2.36	0.88143	D	-1.3	0.32590	N	0.123	0.11483	-0.1345	0.79296	T	0.737	0.91022	D	10	0.13109648	0.24949	T	0.247492	0.88971	D	0.284	0.60219	0.124	0.03018	0.584703298469	0.58143	0.4084870968023575	0.40764	0.521129704978	0.49893	0.739920258522	0.72961	T	0.189651	0.54395	T	-0.0426902	0.45550	T	-0.299098	0.44819	T	0.917940139770508	0.57598	D	0.790621	0.43132	T	0.20541883	0.42683	0.221877	0.47014	0.20541883	0.42683	0.221877	0.47013	-4.937	0.37442	T	.	.	0.231	0.46436	B	.;.	.;.	3.844532	0.55656	23.6	0.99757461113916501	0.84772	0.53803	0.29460	D	AEFDGBHCI	0.441906	0.49986	N	-0.0746010076496978	0.38510	2.256534	-0.0824575617781617	0.36115	2.097701	0.999999999955583	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.93	4.93	0.64394	1.128000	0.30982	2.488000	0.32971	0.599000	0.40250	0.099000	0.22773	0.989000	0.31174	0.846000	0.39970	0.0:0.9168:0.0:0.0832	12.652	0.56130	965	0.07246	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1280.33	33	chr12	114672059	.	C	G	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.994;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1027	18	0	1	0
chr12	116750091	116750091	C	T	exonic	RNFT2	.	nonsynonymous SNV	RNFT2:NM_001109903:exon4:c.C334T:p.P112S,RNFT2:NM_001382266:exon4:c.C334T:p.P112S,RNFT2:NM_032814:exon4:c.C334T:p.P112S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00360203369691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484163525	7.141e-07	4.104e-06	1.412e-06	0	9.207e-07	0	0	.	.	0	0	0	0	0	0	9.207e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.16793	T	1.0	0.27767	T	0.0	0.02946	B	0.001	0.04355	B	0.011615	0.29466	N	0.394040	0.999998	0.08975	N	0.92	0.23413	L	1.01	0.41058	T	0.24	0.04533	N	0.099	0.10056	-0.9747	0.36191	T	0.030	0.12760	T	10	0.03568399	0.01828	T	0.003602	0.08247	T	0.055	0.15663	0.225	0.14960	0.043077524339	0.03247	0.11848851439264518	0.11775	0.237209552378	0.26261	0.31286752224	0.12341	T	0.018444	0.14866	T	-0.274894	0.11217	T	-0.632642	0.10216	T	0.0733780413866043	0.09118	T	0.730127	0.36851	T	0.031613503	0.03034	0.039964985	0.04210	0.031613503	0.03033	0.039964985	0.04210	-3.696	0.19776	T	.	.	0.062	0.09336	B	.;.;.;.;.	.;.;.;.;.	1.535140	0.19691	14.39	0.72495846318952295	0.09994	0.68514	0.33831	D	AEFDBI	0.101772	0.20432	N	-0.769055102807081	0.14122	0.700887	-0.553541148790878	0.20712	1.117157	6.88604927824544E-4	0.07622	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	0.199	0.14453	0.368000	0.20132	0.712000	0.20944	0.599000	0.40250	0.975000	0.34726	0.049000	0.21787	0.922000	0.45779	0.1051:0.5094:0.3215:0.064	7.940	0.29112	703	0.57489	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	909.33	33	chr12	116750091	.	C	T	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.91;DP=670;ExcessHet=0;FS=3.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.73;SOR=1.192	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr12	116911218	116911218	G	A	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_153348:exon1:c.G181A:p.E61K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.203856805534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196698457	9.121e-07	4.105e-06	0	1.921e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.259e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.159	0.31527	T	0.993	0.65571	D	0.956	0.69739	D	0.000886	0.41231	D	0.158496	0.795101	0.81001	D	1.5	0.37844	L	3.05	0.08721	T	-0.74	0.20791	N	0.18	0.19459	-1.0267	0.21527	T	0.032	0.13854	T	10	0.33771944	0.50889	T	0.203857	0.86898	D	0.124	0.34239	0.41	0.44559	0.549460442827	0.54601	.	.	0.187512237378	0.21068	0.930906176567	0.99038	D	0.268052	0.64013	T	-0.0308435	0.47295	T	-0.282081	0.46590	T	0.87755411863327	0.52746	D	0.663934	0.27277	T	0.23661341	0.46514	0.2475859	0.50292	0.23661341	0.46514	0.2475859	0.50291	-5.487	0.41747	T	.	.	.	.	.	.	.	4.294405	0.65523	24.8	0.99764137304508249	0.85335	0.28668	0.23616	N	ALL	0.128904	0.24686	N	0.205556830898867	0.51467	3.327796	0.179907483705352	0.48748	3.086527	0.999999999990406	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	4.11	4.11	0.47350	4.004000	0.56780	10.710000	0.83606	0.556000	0.28261	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.0:1.0:0.0	12.056	0.52834	955	0.09969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	329.33	18	chr12	116911218	.	G	A	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=432;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.154;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1080:.	18	0	1	0
chr12	116985286	116985286	G	T	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon6:c.G718T:p.A240S,FBXW8:NM_153348:exon6:c.G916T:p.A306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0197723895493	.	.	0.0001	0	0	0	0	7.495e-05	0.0011	0.0004	0.0001035	16	154602	rs767993065	3.42e-05	3.489e-05	2.178e-05	4.675e-05	0.0002	2.631e-05	2.375e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0	2.248e-05	8.279e-05	0.0002	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0003	2.557e-05	1.83e-05	8.878e-05	5.387e-05	4.824e-05	0	0.0003	0	0	0	0	2.94e-05	0	0	0.039	0.44358	D	0.069	0.44702	T	0.998	0.73220	D	0.931	0.68407	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	1.975	0.53506	M	3.37	0.05847	T	-1.0	0.26422	N	0.783	0.77978	-1.1106	0.03019	T	0.048	0.20513	T	10	0.60561615	0.67157	D	0.019772	0.42216	T	0.213	0.50496	0.481	0.56142	0.38242337071	0.37855	.	.	0.269942675318	0.29517	0.500554323196	0.38905	T	0.291504	0.66425	T	-0.214665	0.18726	T	-0.249935	0.49823	T	0.14147660633647	0.16402	T	0.834017	0.50309	T	0.21060881	0.43362	0.21498941	0.46070	0.21060881	0.43362	0.21498941	0.46069	-3.66	0.18729	T	.	.	0.128	0.27433	B	.;.	.;.	4.470195	0.69653	25.4	0.99713689464747035	0.81493	0.97647	0.76137	D	AEFDBI	0.648034	0.62300	D	0.652274200567822	0.76518	6.500984	0.683842438091861	0.81154	7.460433	0.99999999191847	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	6.887000	0.75425	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.158	0.98126	939	0.14249	WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2147.33	35	chr12	116985286	.	G	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.589;DP=795;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.934;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr12	117024188	117024188	C	T	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon9:c.C1211T:p.S404L,FBXW8:NM_153348:exon9:c.C1409T:p.S470L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0923423773475	.	.	3.296e-05	9.612e-05	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs770239908	1.642e-05	1.642e-05	1.633e-05	1.65e-05	0.0002	1.111e-05	9.33e-06	9.791e-05	7.838e-05	5.974e-05	0	0	0	0	0	6.295e-06	1.656e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	4.826e-05	0	0	0	0	0	0	0	0.0005	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.994	0.90584	D	0.6	0.73362	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	3.46	0.05249	T	-3.65	0.69950	D	0.745	0.79503	-1.1957	0.00185	T	0.064	0.26349	T	10	0.8160344	0.80842	D	0.092342	0.75873	D	0.347	0.66863	0.568	0.69034	0.412064437402	0.40821	.	.	0.484376826454	0.47346	0.57191824913	0.48950	T	0.697765	0.91270	D	-0.0516262	0.44199	T	-0.0197852	0.69042	D	0.937397181987762	0.60714	D	0.867113	0.56785	D	0.611861	0.73328	0.46592066	0.69009	0.611861	0.73329	0.46592066	0.69009	-8.115	0.61852	D	.	.	0.198	0.42126	B	.;.	.;.	4.344243	0.66670	25.0	0.99880651526454889	0.95653	0.99267	0.93693	D	AEFDGBI	0.735429	0.68124	D	0.606289650473127	0.73571	5.988075	0.555198718953126	0.71759	5.704149	0.999999999999831	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.168000	0.64817	5.869000	0.50514	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	19.312	0.94184	959	0.08690	WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1045.33	33	chr12	117024188	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.514;DP=717;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.189;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr12	117531702	117531702	G	A	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon11:c.C1693T:p.H565Y	.	432	1087	3	0	0	3	0.00137804	.	.	.	1563929	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.315	.	8.1e-05	0.00559105	0.0042	0.0002	0	0.0311	0	4.51e-05	0.0011	0.0139	0.0035575	550	154602	rs11068531	0.0018	0.0019	0.0015	0.0021	0.0377	0.0017	0.0017	0.0361	0.0354	0.0001	2.388e-05	0.0008	0.0377	0	0.0003	5.244e-05	0.0018	0.0116	0.0014	0.0014	0.0011	0.0017	0.0265	0.0012	0.0012	0.0229	0.0215	0.0002	0	0.0001	0.0006	0.0265	0	0	1.47e-05	0.0009	0.0127	0.721	0.04020	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000619	0.42945	D	0.267280	0.998704	0.45307	D	-0.39	0.03026	N	-1.14	0.77843	T	-0.29	0.11728	N	0.217	0.25377	-0.6654	0.62036	T	0.173	0.51516	T	10	0.008645475	0.00196	T	.	.	.	0.315	0.63694	.	.	0.459974577466	0.45620	0.42253121087907314	0.42170	0.792363411947	0.65867	0.603496551514	0.53398	T	0.230716	0.59686	T	-0.363216	0.03952	T	-0.273562	0.47458	T	0.0134186275219366	0.00244	T	0.817618	0.47476	T	0.14324854	0.32931	0.11561101	0.27908	0.14324854	0.32930	0.11561101	0.27907	-4.57	0.31792	T	.	.	0.093	0.13969	B	.;.	.;.	2.685503	0.35042	19.79	0.86897403343138058	0.16848	0.93637	0.58764	D	AEFBI	0.719377	0.67028	D	-0.380042723952373	0.26182	1.426921	-0.129268241615326	0.34216	1.965706	0.980739351567847	0.30170	0.57788	0.32782	0	0.573888	0.26702	0	0.547309	0.15389	0	0.421255	0.06892	1	.	.	4.66	4.66	0.57857	3.460000	0.52793	9.836000	0.81892	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.736	0.88302	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	638.33	34	chr12	117531702	.	G	A	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.686;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.748;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1213	18	0	1	0
chr12	118016853	118016853	A	G	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon1:c.A26G:p.Q9R,RFC5:NM_007370:exon1:c.A26G:p.Q9R	.	416	1104	2	0	0	2	0.000904977	.	.	.	2397309	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00797513108604	7.7e-05	.	5.63e-05	0	9.553e-05	0	0.0002	6.781e-05	0	0	3.88e-05	6	154602	rs368901773	1.095e-05	1.094e-05	1.498e-05	6.878e-06	0.0002	6.48e-06	5.25e-06	7.42e-06	5.03e-06	0	4.474e-05	0	0	0	0.0002	1.169e-05	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.057	0.37966	T	0.403	0.14865	T	0.039	0.21116	B	0.007	0.12992	B	0.430924	0.12749	N	0.705715	1	0.81001	D	1.245	0.31408	L	2.57	0.13552	T	-0.01	0.07155	N	0.262	0.29659	-1.0251	0.22050	T	0.020	0.08313	T	10	0.08179921	0.13431	T	0.007975	0.21136	T	0.022	0.04323	.	.	0.272639205421	0.26888	0.5999380220822944	0.59924	0.419956848209	0.42533	0.406239926815	0.25937	T	0.101694	0.40869	T	-0.356579	0.04327	T	-0.642321	0.09500	T	0.147223894878771	0.16880	T	0.370263	0.08727	T	0.13674401	0.31688	0.19127727	0.42577	0.13674401	0.31688	0.19127727	0.42576	-5.088	0.37780	T	.	.	0.072	0.04198	B	.	.	2.371431	0.30428	18.43	0.92656415644101153	0.22135	0.73920	0.36157	D	ALL	0.108380	0.21563	N	-0.567080001363476	0.19952	1.048189	-0.448078870118383	0.23604	1.288055	0.999999999999605	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	3.46	0.38718	0.807000	0.26800	2.459000	0.32846	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.7129:0.1909:0.0962:0.0	4.883	0.13046	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	620.33	33	chr12	118016853	.	A	G	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.922;DP=676;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.085;SOR=0.402	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1153	18	0	1	0
chr12	118073777	118073777	G	C	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon5:c.C1141G:p.L381V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00361070208814	.	.	8.283e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756872016	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.13306	T	0.498	0.11263	T	0.002	0.09854	B	0.007	0.12992	B	0.213635	0.16305	N	0.454568	0.998641	0.22015	N	1.055	0.26876	L	0.62	0.53302	T	-0.31	0.12099	N	0.072	0.04547	-1.0467	0.15332	T	0.081	0.31884	T	10	0.07446632	0.11387	T	0.003611	0.08278	T	0.046	0.12618	0.315	0.29096	0.0666544352282	0.05500	0.32334680865778326	0.32247	0.204509772023	0.22873	0.274507880211	0.06738	T	6.21E-4	0.00264	T	-0.296428	0.09001	T	-0.56672	0.15750	T	0.0259780104226031	0.01403	T	0.553945	0.19167	T	0.032027975	0.03150	0.03419619	0.02445	0.032027975	0.03150	0.03419619	0.02445	-6.94	0.53595	T	.	.	0.073	0.04640	B	.	.	1.859259	0.23619	16.09	0.26505483902103422	0.01273	0.11221	0.16489	N	AEFDBI	0.047870	0.08110	N	-0.477263950414019	0.22828	1.221632	-0.337112784109734	0.26910	1.489671	0.00455251154871086	0.10614	0.706548	0.73137	0	0.593476	0.48661	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	3.77	0.42499	0.400000	0.20657	5.124000	0.47608	0.675000	0.71128	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.0:0.4896:0.3182:0.1922	9.506	0.38213	962	0.08456	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	781.33	36	chr12	118073777	.	G	C	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.521;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	18	0	1	0
chr12	119102258	119102258	G	T	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon2:c.G154T:p.V52F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00239617	0.0008	0	0	0.0111	0	0	0.0022	0.0002	0.0007633	118	154602	rs118023042	0.0006	0.0006	0.0006	0.0006	0.0221	0.0006	0.0006	0.0209	0.0204	2.988e-05	0	0	0.0221	0	0	8.996e-07	0.0005	6.961e-05	0.0004	0.0004	0.0004	0.0005	0.0118	0.0003	0.0003	0.0094	0.0086	0	0	6.539e-05	0	0.0118	0	0	0	0.0005	0.0004	0.104	0.29959	T	0.699	0.05747	T	0.078	0.24389	B	0.091	0.29943	B	0.001805	0.00828	N	3.189600	1	0.08975	N	0.345	0.11182	N	1.91	0.23283	T	-0.77	0.21429	N	0.16	0.16725	-1.0302	0.20390	T	0.014	0.05369	T	10	0.0039785802	0.00077	T	.	.	.	0.033	0.08068	.	.	0.0401082797425	0.02173	0.07663712880761873	0.07599	0.203420915256	0.22757	0.274839431047	0.06783	T	0.008015	0.07382	T	-0.658055	0.00065	T	-0.708632	0.05366	T	0.0309175134033493	0.02132	T	0.420158	0.11156	T	0.059253994	0.12021	0.043735493	0.05508	0.059253994	0.12020	0.043735493	0.05508	-3.659	0.18715	T	.	.	0.089	0.12371	B	.	.	-1.769574	0.00168	0.002	0.89067363969681013	0.18484	0.00745	0.03105	N	AEFBI	0.035089	0.04458	N	-1.74197066383964	0.00703	0.03036113	-1.8639426284822	0.00575	0.02554606	0.999824802223434	0.43622	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	4.83	-9.65	0.00450	-2.232000	0.01288	-1.993000	0.04377	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1942:0.2584:0.3759:0.1715	2.502	0.04354	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	958.33	34	chr12	119102258	.	G	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=684;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.055;SOR=0.434	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr12	119130737	119130737	G	A	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon8:c.G674A:p.C225Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0108632319313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	1.0	0.01155	T	0.005	0.12996	B	0.008	0.13708	B	0.074214	0.21298	N	0.480369	0.832492	0.28741	N	2.015	0.55033	M	1.95	0.22474	T	-2.07	0.47344	N	0.234	0.26354	-1.0021	0.29313	T	0.034	0.14421	T	10	0.11337343	0.21296	T	0.010863	0.27874	T	0.084	0.24469	0.3	0.26683	0.0666544352282	0.05500	0.29545233895925077	0.29458	0.485881072082	0.47466	0.494371652603	0.38046	T	0.012125	0.10712	T	-0.172619	0.24839	T	-0.485731	0.23840	T	0.574972860337812	0.35425	D	0.680032	0.28847	T	0.14605236	0.33451	0.19333532	0.42897	0.14605236	0.33451	0.19333532	0.42896	-3.812	0.20984	T	.	.	0.099	0.16582	B	.	.	3.478777	0.48568	22.6	0.97593347139642728	0.34803	0.67196	0.33345	D	AEFBI	0.124198	0.24014	N	-0.300301252383252	0.29137	1.613168	-0.113563581370392	0.34842	2.008841	0.00147134129962618	0.08567	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	4.17	0.48303	2.129000	0.41677	6.614000	0.56098	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1793:0.0:0.8207:0.0	8.194	0.30546	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1032.33	38	chr12	119130737	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=695;ExcessHet=0;FS=4.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.958;SOR=0.89	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1143	18	0	1	0
chr12	119156625	119156642	CGGAGCCGGAGCCGGAGA	-	exonic	SRRM4	.	nonframeshift deletion	SRRM4:NM_194286:exon13:c.1663_1680del:p.S558_R563del	.	283	1236	2	0	1	3	0.000808407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.137e-05	0	0	0	0	5.001e-05	0	0.0003	3.84e-05	1	26028	rs765938051	0.0001	0.0001	8.616e-05	0.0001	0.0006	8.692e-05	8.178e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0002	7.12e-05	5.01e-05	0.0006	2.012e-05	1.987e-05	1.31e-05	2.749e-05	6.637e-05	5.35e-06	2.48e-06	4.94e-06	1.85e-06	0	0	6.637e-05	0	0	0	0	2.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	581.29	36	chr12	119156624	.	TCGGAGCCGGAGCCGGAGA	T	581.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.554;DP=501;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.42;ReadPosRankSum=0.414;SOR=0.368	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,607	18	0	1	0
chr12	119472155	119472155	C	-	exonic	CCDC60	.	frameshift deletion	CCDC60:NM_178499:exon3:c.332delC:p.L112Yfs*2	.	428	1077	17	0	0	17	0.00783049	.	.	.	3185424	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0007	9.619e-05	0.0011	0	0	0.0008	0	0.0007	0.0005757	89	154602	rs559574757	0.0006	0.0006	0.0006	0.0006	0.0094	0.0006	0.0006	0.0074	0.0067	0.0002	0.0014	7.654e-05	0	0	0.0094	0.0006	0.0011	0.0008	0.0006	0.0006	0.0006	0.0006	0.0013	0.0005	0.0005	0.0009	0.0007	0.0001	0	0.0013	0	0	0	0.0204	0.0008	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011593	0.015152	0.009511	0.020588	0.050000	0.025862	0.006098	0.000000	0.02632	1253.29	34	chr12	119472154	.	AC	A	1253.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=752;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.581;SOR=0.797	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1390	18	0	1	0
chr12	119516685	119516685	G	A	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon8:c.G946A:p.G316R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0029132671126	.	.	1.657e-05	0	0	0	0	1.505e-05	0	6.121e-05	1.29e-05	2	154602	rs749325577	2.669e-05	2.668e-05	1.906e-05	3.439e-05	0.0001	1.998e-05	1.754e-05	7.998e-05	6.237e-05	0	0	0	0	0	0	2.249e-05	3.312e-05	0.0001	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.114	0.28646	T	0.342	0.17910	T	0.023	0.18885	B	0.016	0.17743	B	0.996927	0.07992	N	0.998347	1	0.08975	N	0.665	0.16292	N	2.0	0.21473	T	-0.2	0.10136	N	0.181	0.19593	-1.0088	0.27292	T	0.037	0.15813	T	9	0.068422645	0.09676	T	0.002913	0.06162	T	0.051	0.14325	0.326	0.30873	0.178374595973	0.17440	0.24070604589450623	0.23984	0.0733822023131	0.08227	0.288550049067	0.08712	T	0.002555	0.01944	T	-0.386495	0.02833	T	-0.611422	0.11870	T	0.414678871631622	0.29492	T	0.522848	0.17081	T	0.025252106	0.01442	0.060692765	0.11598	0.025252106	0.01442	0.060692765	0.11598	-2.613	0.06603	T	.	.	0.12	0.24767	B	.	.	1.070488	0.14528	11.10	0.62946859158693724	0.07094	0.10590	0.16054	N	AEFBI	0.059829	0.11329	N	-0.75284756160293	0.14556	0.7260802	-0.740234377956621	0.15961	0.842126	3.13762896827812E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.87	0.43823	1.832000	0.38791	4.064000	0.41610	0.676000	0.76740	0.008000	0.17931	0.816000	0.27083	0.008000	0.08271	0.0998:0.0:0.9002:0.0	9.174	0.36261	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	454.33	41	chr12	119516685	.	G	A	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=673;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.086;SOR=1.061	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1162	18	0	1	0
chr12	120178868	120178868	G	A	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon6:c.C509T:p.T170M	.	428	1091	3	0	0	3	0.001373	.	.	.	2337737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0126223096684	.	.	4.167e-05	0	0	0.0001	0	3.013e-05	0	0.0001	4.53e-05	7	154602	rs368315746	3.284e-05	3.283e-05	4.084e-05	2.475e-05	0.0002	2.543e-05	2.249e-05	2.201e-05	1.942e-05	5.974e-05	6.708e-05	0	0	0	0.0002	3.058e-05	4.967e-05	5.797e-05	5.914e-05	5.911e-05	0.0001	1.345e-05	0.0003	3.078e-05	2.21e-05	0.0001	8.293e-05	2.413e-05	0	0.0003	0	0	0	0	2.94e-05	0.0005	0	0.226	0.18562	T	0.212	0.26549	T	.	.	.	.	.	.	0.000050	0.53742	D	0.188889	0.716608	0.29962	N	.	.	.	3.53	0.04852	T	-0.56	0.17003	N	0.446	0.48411	-0.9937	0.31643	T	0.008	0.02679	T	10	0.17004627	0.31646	T	0.012622	0.31353	T	0.053	0.14996	0.43	0.47843	0.043077524339	0.03247	0.14771819605067113	0.14693	0.292073870543	0.31614	0.404083818197	0.25637	T	.	.	.	-0.417018	0.01788	T	-0.600126	0.12801	T	0.0700873658061028	0.08663	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10594	B	.	.	3.546636	0.49836	22.8	0.98209968997094799	0.39202	0.92803	0.56584	D	AEFDBCI	0.439999	0.49874	N	-0.0441284013261063	0.39865	2.357951	0.0940643828666993	0.44250	2.71036	0.118860481092234	0.16832	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	3.69	0.41483	2.799000	0.47586	8.011000	0.76190	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1189:0.4992:0.3818	7.652	0.27519	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1978.33	34	chr12	120178868	.	G	A	1978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=825;ExcessHet=0;FS=1.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.925;SOR=0.855	GT:AD:DP:GQ:PL	0/1:93,79:172:99:1992,0,2249	18	0	1	0
chr12	120184134	120184134	C	T	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon4:c.G295A:p.G99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00427318416725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09155	T	0.731	0.05146	T	.	.	.	.	.	.	0.009218	0.30465	N	0.374520	0.579509	0.31111	N	.	.	.	5.92	0.00621	T	-0.14	0.09135	N	0.131	0.12627	-0.9793	0.35162	T	0.002	0.00585	T	10	0.10037807	0.18275	T	0.004273	0.10341	T	0.138	0.37187	0.311	0.28451	0.161926535498	0.15789	0.13429201583239306	0.13353	1.20759006671	0.80741	0.526822924614	0.42588	T	.	.	.	-0.255491	0.13433	T	-0.604772	0.12413	T	0.301692287183439	0.25074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05979	B	.	.	2.957567	0.39377	20.9	0.97864743506072926	0.36492	0.94331	0.60825	D	AEFDBI	0.159363	0.28515	N	-0.318061240245551	0.28461	1.570078	-0.0510102600932483	0.37446	2.192643	0.999674897772599	0.41644	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	1.460000	0.34855	3.967000	0.40794	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.8867:0.0:0.1133	13.103	0.58646	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	34	chr12	120184134	.	C	T	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=735;ExcessHet=0;FS=5.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q,PXN:NM_002859:exon8:c.G1079A:p.R360Q,PXN:NM_025157:exon8:c.G680A:p.R227Q,PXN:NM_001080855:exon9:c.G1181A:p.R394Q	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.024457	0.038012	0.000000	0.017241	0.021341	0.018939	0.02632	2211.33	33	chr12	120214922	.	C	T	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=815;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.846;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr12	120446678	120446678	G	A	exonic	GATC	.	nonsynonymous SNV	GATC:NM_176818:exon2:c.G103A:p.A35T	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0172572336915	7.7e-05	0.000199681	0.0001	0.0001	0.0003	0	0	0.0001	0	6.264e-05	0.0001035	16	154602	rs376375391	0.0001	0.0001	9.945e-05	0.0001	0.0007	9.476e-05	8.957e-05	0.0003	0.0003	0	0.0005	3.832e-05	0	0.0004	0.0007	8.726e-05	0.0001	5.802e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	9.229e-05	0.0005	0.0004	4.807e-05	0	0.0008	0	0	0.0003	0	0.0001	0	0	0.267	0.16198	T	0.364	0.16766	T	0.072	0.23997	B	0.042	0.24114	B	0.012561	0.29128	N	0.401624	1	0.08975	N	1.04	0.26193	L	0.84	0.47477	T	-0.33	0.12472	N	0.173	0.18512	-0.9754	0.36037	T	0.149	0.47487	T	10	0.037268877	0.02071	T	0.017257	0.38885	T	0.038	0.09825	.	.	0.393927044628	0.39002	0.25339250122555323	0.25253	0.543186546507	0.51402	0.416510879993	0.27357	T	0.011681	0.10383	T	-0.414408	0.01859	T	-0.485873	0.23824	T	0.0596446580116116	0.07112	T	0.342266	0.07430	T	0.046065364	0.07647	0.08918627	0.20842	0.046065364	0.07647	0.08918627	0.20841	-5.872	0.45195	T	0.1655725421914884	0.20534	0.077	0.06205	B	.	.	2.092474	0.26622	17.18	0.99460469103519011	0.65788	0.41264	0.26619	N	ALL	0.230382	0.35377	N	-0.376572678282414	0.26306	1.434693	-0.432488752422483	0.24049	1.314837	0.999999999973261	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.08	3.25	0.36363	3.663000	0.54256	3.030000	0.36038	-0.122000	0.13826	0.945000	0.32849	0.391000	0.24664	0.007000	0.07825	0.0:0.2774:0.7226:0.0	14.429	0.66812	615	0.66512	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1361.33	118	chr12	120446678	.	G	A	1361.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=821;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.758;SOR=0.79	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr12	120557565	120557565	C	T	exonic	RNF10	.	nonsynonymous SNV	RNF10:NM_001330474:exon6:c.C850T:p.H284Y,RNF10:NM_014868:exon6:c.C850T:p.H284Y	.	428	1093	1	0	0	1	0.000457247	.	.	.	2368475	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.252	0.0162888684166	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765765405	2.668e-05	2.736e-05	1.633e-05	3.713e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	2.236e-05	0	2.519e-05	0	0	6.295e-06	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.46910	D	0.074	0.42976	T	0.066	0.26116	B	0.052	0.32387	B	0.000042	0.53742	D	0.157432	1	0.08975	N	1.935	0.51832	L	-2.47	0.88997	D	-2.4	0.53736	N	0.202	0.33140	-0.2130	0.77335	T	0.575	0.84639	D	10	0.13349453	0.25408	T	0.016289	0.37474	T	0.252	0.56159	0.354	0.35408	0.532691155838	0.52918	0.4945206706394632	0.49373	0.252503775226	0.27817	0.230687901378	0.02019	T	0.221167	0.58467	T	-0.204357	0.20179	T	-0.239172	0.50880	T	0.129515288819056	0.15337	T	0.89941	0.66280	D	0.17177565	0.37831	0.17449594	0.39850	0.17177565	0.37831	0.17449594	0.39849	-7.733	0.59334	D	.	.	0.098	0.18080	B	.;.	.;.	3.600484	0.50854	23.0	0.98443054178126499	0.41531	0.63866	0.32224	D	AEFBI	0.371971	0.45779	N	-0.126845612923404	0.36226	2.091112	-0.0124733458032086	0.39151	2.316984	0.999993909820351	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.04	5.15	0.70287	4.102000	0.57509	5.910000	0.51009	0.599000	0.40250	0.864000	0.30684	0.997000	0.33255	0.994000	0.71098	0.0:0.9339:0.0:0.0661	15.748	0.77725	627	0.65350	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1985.33	37	chr12	120557565	.	C	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=875;ExcessHet=0;FS=1.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.58;SOR=0.804	GT:AD:DP:GQ:PL	0/1:97,75:172:99:1999,0,2662	18	0	1	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1336.33	33	chr12	120739317	.	A	G	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.125;DP=777;ExcessHet=0;FS=5.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.845;SOR=1.074	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,113,1312	18	0	1	0
chr12	121133096	121133096	G	T	splicing	P2RX7	NM_002562:exon1:c.125+1G>T	.	.	.	421	1087	13	1	0	15	0.00685244	1.0000	0.934	.	482275	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0074	0.00359425	0.0054	0.0012	0.0041	0	0.0024	0.0083	0.0044	0.0012	0.0057244	885	154602	rs35933842	0.0075	0.0075	0.0076	0.0073	0.0101	0.0074	0.0073	0.0087	0.0086	0.0012	0.0050	0.0048	5.039e-05	0.0027	0.0101	0.0088	0.0065	0.0012	0.0053	0.0053	0.0054	0.0051	0.0086	0.0050	0.0048	0.0080	0.0078	0.0016	0	0.0059	0.0052	0	0.0024	0.0102	0.0086	0.0066	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0878459	0.38431	T	0.113363	0.77795	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.945919	0.94145	33	0.99237745327026916	0.56437	0.89025	0.49249	D	ALL	.	.	.	0.968598979980077	0.94693	12.96251	0.781160319509153	0.88452	9.588146	0.999999999819479	0.74766	0.046548	0.00263	1	0.073863	0.01883	0	0.03606	0.00165	1	0.054758	0.00131	0	0.974617	0.77319	4.5	4.5	0.54382	4.224000	0.58391	11.665000	0.94033	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	12.883	0.57418	369	0.84396	.	.	.	.	.	rs35933842	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1947.33	33	chr12	121133096	.	G	T	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=787;ExcessHet=0;FS=4.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.897;SOR=1.135	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1380	18	0	1	0
chr12	121184747	121184747	G	A	exonic	P2RX7	.	nonsynonymous SNV	P2RX7:NM_002562:exon13:c.G1733A:p.R578Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	437949	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0248566436925	0.0025	0.00319489	0.0061	0.0005	0.0052	0	0	0.0070	0	0.0077	0.0025485	394	154602	rs28360460	0.0054	0.0053	0.0053	0.0055	0.0081	0.0053	0.0052	0.0075	0.0073	0.0010	0.0025	0.0053	0.0001	0.0013	0.0067	0.0058	0.0047	0.0081	0.0034	0.0034	0.0035	0.0032	0.0058	0.0031	0.0030	0.0048	0.0046	0.0010	0	0.0029	0.0046	0.0004	0.0009	0.0034	0.0052	0.0071	0.0058	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.932	0.66722	D	0.000568	0.43250	D	0.000000	0.996597	0.43297	D	2.78	0.81115	M	.	.	.	.	.	.	0.762	0.76019	-0.6451	0.62926	T	0.175	0.51927	T	10	0.010714412	0.00237	T	0.024857	0.47845	T	0.292	0.61157	.	.	0.828905317767	0.82728	0.8286462745371947	0.82822	.	.	0.455148756504	0.32647	T	0.267225	0.63924	T	0.0604773	0.59672	T	0.31824	0.89017	D	0.0185732544201584	0.00572	T	0.892511	0.62902	D	0.13353944	0.31056	0.19491485	0.43139	0.13353944	0.31056	0.19491485	0.43139	-5.238	0.39326	T	0.7238937996200687	0.80517	0.223	0.45409	B	.	.	5.066532	0.84472	28.3	0.99949572079195992	0.99938	0.94025	0.59887	D	AEFDGBHCI	0.792576	0.72083	D	0.811249774334158	0.86804	9.004653	0.750582436068223	0.86199	8.813995	0.999999999995612	0.74766	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.119000	0.76770	8.479000	0.77294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	16.045	0.80517	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007209	0.005319	0.005510	0.008876	0.000000	0.008772	0.006329	0.019380	0.02632	1099.33	44	chr12	121184747	.	G	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=860;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.036;SOR=1.065	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	18	0	1	0
chr12	121232487	121232487	G	A	exonic	P2RX4	.	nonsynonymous SNV	P2RX4:NM_001261397:exon9:c.G877A:p.D293N,P2RX4:NM_001261398:exon9:c.G958A:p.D320N,P2RX4:NM_002560:exon9:c.G958A:p.D320N,P2RX4:NM_001256796:exon10:c.G1006A:p.D336N	.	400	1120	2	0	0	2	0.000892061	.	.	.	2368768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.0509071631482	.	.	2.472e-05	0	8.646e-05	0	0	1.499e-05	0	6.057e-05	1.94e-05	3	154602	rs761067441	1.779e-05	1.779e-05	1.498e-05	2.063e-05	0.0003	1.238e-05	1.051e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.169e-05	6.623e-05	6.956e-05	3.283e-05	3.281e-05	2.57e-05	4.029e-05	4.81e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0	0.008	0.59928	D	0.035	0.56192	D	0.918	0.50838	P	0.735	0.55480	P	0.000001	0.84330	D	0.090749	0.999997	0.81001	D	2.695	0.78878	M	3.49	0.05071	T	-4.56	0.79998	D	0.57	0.59308	-1.0208	0.23454	T	0.072	0.29291	T	10	0.66731083	0.70504	D	0.050907	0.64438	D	0.378	0.69612	.	.	0.643072836008	0.64012	0.8554010947366473	0.85503	0.787649090982	0.65612	0.639040708542	0.58427	T	0.379083	0.74191	T	-0.229619	0.16700	T	-0.364955	0.37477	T	0.661210596561432	0.38949	D	0.967503	0.88280	D	0.5982631	0.72598	0.4405823	0.67372	0.5982631	0.72599	0.4405823	0.67372	-12.676	0.89870	D	.	.	0.277	0.70783	B	.;.;.;.	.;.;.;.	4.438284	0.68891	25.3	0.99900561377941288	0.97275	0.97385	0.74413	D	AEFBCI	0.856038	0.77323	D	0.660237664275739	0.77032	6.597433	0.635682284954437	0.77547	6.700762	0.999999999995176	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.02	5.02	0.66742	6.453000	0.73407	9.779000	0.81589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.316	0.87110	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2064.33	33	chr12	121232487	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.023;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.161;SOR=0.703	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr12	121274159	121274159	C	T	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon1:c.G368A:p.C123Y,CAMKK2:NM_001270485:exon2:c.G368A:p.C123Y,CAMKK2:NM_006549:exon2:c.G368A:p.C123Y,CAMKK2:NM_153499:exon2:c.G368A:p.C123Y,CAMKK2:NM_153500:exon2:c.G368A:p.C123Y,CAMKK2:NM_172214:exon2:c.G368A:p.C123Y,CAMKK2:NM_172215:exon2:c.G368A:p.C123Y,CAMKK2:NM_172216:exon2:c.G368A:p.C123Y,CAMKK2:NM_172226:exon2:c.G368A:p.C123Y	.	403	1085	33	1	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0081	0.00858626	0.0148	0.0021	0.0093	0.0012	0.0228	0.0154	0.0241	0.0316	0.0094436	1460	154602	rs35403710	0.0097	0.0097	0.0096	0.0099	0.0161	0.0096	0.0095	0.0154	0.0151	0.0019	0.0041	0.0096	0.0004	0.0123	0.0146	0.0099	0.0092	0.0161	0.0083	0.0083	0.0079	0.0087	0.0156	0.0079	0.0078	0.0127	0.0117	0.0019	0.0593	0.0068	0.0107	0.0014	0.0145	0.0308	0.0107	0.0095	0.0156	1.0	0.14064	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.073513	0.21342	N	0.513997	0.915977	0.27403	N	0	0.06538	N	-0.6	0.71662	T	2.64	0.10656	N	0.088	0.11769	-0.9951	0.31272	T	0.061	0.25383	T	10	0.0040839314	0.00080	T	.	.	.	0.082	0.23913	.	.	0.176862962021	0.17281	0.43557359236685883	0.43474	0.621552758047	0.56441	0.368951529264	0.20682	T	0.093184	0.39159	T	-0.503794	0.00544	T	-0.482162	0.24216	T	0.000768810310415796	0.00007	T	0.79742	0.44372	T	0.021128068	0.00700	0.048166234	0.07098	0.021128068	0.00700	0.048166234	0.07097	-5.457	0.42370	T	.	.	0.073	0.05491	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.374368	0.02310	0.245	0.37119601189109436	0.02427	0.20043	0.20893	N	AEFDBI	0.080568	0.16291	N	-1.29796890440581	0.03700	0.165763	-1.19460728582447	0.05999	0.2874759	0.340445358134234	0.19578	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.93	-0.258	0.12334	1.178000	0.31590	-0.630000	0.08130	-0.181000	0.10308	0.997000	0.40164	0.000000	0.08366	0.108000	0.18652	0.0:0.2583:0.1488:0.5929	4.887	0.13063	541	0.72942	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013636	0.005102	0.016304	0.014620	0.000000	0.034483	0.012270	0.011364	0.05263	2389.83	78	chr12	121274159	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.058;DP=790;ExcessHet=0.119;FS=6.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.78;SOR=1.176	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	17	0	2	0
chr12	121439883	121439883	T	C	exonic	KDM2B	.	nonsynonymous SNV	KDM2B:NM_001005366:exon21:c.A3596G:p.D1199G,KDM2B:NM_032590:exon22:c.A3803G:p.D1268G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.0156909168381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.32769	T	0.29	0.51112	T	1.0	0.90584	D	0.996	0.84481	D	0.000035	0.55875	D	0.000000	1	0.81001	D	1.38	0.34346	L	1.56	0.29602	T	-3.27	0.74742	D	0.834	0.82964	-1.0414	0.16890	T	0.118	0.41451	T	10	0.61734146	0.67781	D	0.015691	0.36562	T	0.351	0.67234	0.412	0.44887	0.443848435703	0.44006	0.505351052174511	0.50457	1.53742651601	0.87669	0.783381819725	0.79438	T	0.07543	0.81008	T	0.210918	0.74916	D	0.065193	0.74589	D	0.928462227043948	0.59193	D	0.89921	0.64723	D	0.49106938	0.66566	0.46358624	0.68861	0.49106938	0.66567	0.46358624	0.68861	-11.852	0.84123	D	.	.	0.688	0.86637	P	.;.;.	.;.;.	5.151677	0.86283	28.9	0.99822296990497028	0.90502	0.99336	0.94674	D	AEFDGBI	0.894226	0.83299	D	0.326275883906864	0.57499	3.917624	0.459806536892876	0.65351	4.812582	0.999999999996261	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.017000	0.88732	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.186	0.81771	570	0.70478	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1733.33	35	chr12	121439883	.	T	C	1733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.905;DP=789;ExcessHet=0;FS=5.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.174;SOR=0.377	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1294	18	0	1	0
chr12	121781000	121781000	G	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon4:c.C343A:p.P115T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	0.165254391313	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336727204	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0001	1e-06	7.3e-07	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	-0.99	0.75911	T	-4.84	0.81030	D	0.804	0.85979	0.332	0.88062	D	0.615	0.86393	D	10	0.8051459	0.79863	D	0.165254	0.84417	D	0.765	0.92046	0.565	0.68633	0.961065167615	0.96064	0.7379060640832885	0.73735	0.96573607382	0.73167	0.613409638405	0.54798	T	0.489663	0.84056	T	0.129556	0.67317	D	0.11745	0.78066	D	0.995060384273529	0.86768	D	0.983202	0.94289	D	0.750148	0.80877	0.6523802	0.79656	0.750148	0.80878	0.6523802	0.79657	-9.451	0.70554	D	.	.	0.719	0.79954	P	.;.;.;.;.	.;.;.;.;.	5.181505	0.86881	29.1	0.99762829126402486	0.85172	0.96916	0.71642	D	AEFDGBCI	0.892745	0.82998	D	0.918028604366899	0.92614	11.52593	0.879665455336744	0.94623	12.90823	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	9.602000	0.97623	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.605	0.91218	662	0.61715	Small GTP-binding protein domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1718.33	34	chr12	121781000	.	G	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.575;DP=755;ExcessHet=0;FS=3.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.134;SOR=0.891	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr12	121823257	121823257	G	A	exonic	SETD1B	.	nonsynonymous SNV	SETD1B:NM_001353345:exon12:c.G4678A:p.V1560I	.	421	1085	13	3	0	19	0.00867976	.	.	.	2743695	SETD1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.664128949989	.	0.000399361	0.0043	0.0014	0	0.0031	0	0.0038	0	0.0051	0.0005433	84	154602	rs200570124	0.0038	0.0037	0.0039	0.0038	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0008	3.972e-05	5.597e-05	0.0007	0.0025	0.0043	0.0050	0.0042	0.0021	0.0022	0.0025	0.0017	0.0044	0.0020	0.0019	0.0036	0.0034	0.0004	0	0.0009	0	0.0002	0	0.0034	0.0040	0.0014	0.0044	0.427	0.09629	T	0.479	0.13215	T	.	.	.	.	.	.	0.099836	0.19915	N	0.371949	1	0.08975	N	0.345	0.11182	N	-3.35	0.94022	D	-0.19	0.09965	N	0.047	0.02272	-0.5888	0.65268	T	0.457	0.78843	T	10	0.0068853498	0.00156	T	0.664129	0.97184	D	0.195	0.47612	.	.	0.408307896497	0.40449	0.0751339239987074	0.07449	1.09904661902	0.77669	0.763088822365	0.76391	T	0.016606	0.13692	T	-0.435475	0.01375	T	-0.397902	0.33628	T	0.00920149760717049	0.00116	T	0.458554	0.13398	T	0.02147241	0.00751	0.035252094	0.02741	0.02147241	0.00751	0.035252094	0.02740	-4.263	0.27655	T	.	.	0.070	0.04723	B	.;.;.;.	.;.;.;.	1.466960	0.18903	13.99	0.91787916343125187	0.21092	0.80114	0.39839	D	AEFDBHCI	0.077889	0.15703	N	-0.65597818774819	0.17286	0.888222	-0.530789660053817	0.21318	1.152726	0.989592233712894	0.31876	0.562547	0.31514	0	0.577304	0.33150	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	4.36	0.445	0.15808	0.185000	0.16767	0.600000	0.19915	0.567000	0.28720	0.000000	0.06391	0.007000	0.19602	0.687000	0.33748	0.1417:0.1755:0.5022:0.1806	2.119	0.03495	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004016	0.000000	0.000000	0.004000	0.000000	0.000000	0.020202	0.000000	0.02632	896.33	34	chr12	121823257	.	G	A	896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=712;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.113;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr12	122190267	122190267	G	A	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.G800A:p.R267H,LRRC43:NM_152759:exon5:c.G245A:p.R82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0735071993228	.	.	1.657e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs781739519	8.893e-06	8.893e-06	9.529e-06	8.251e-06	5.797e-05	4.96e-06	3.82e-06	2.194e-05	1.43e-05	2.987e-05	4.472e-05	0	0	0	0	1.799e-06	4.967e-05	5.797e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000297	0.46274	D	0.149191	0.966831	0.38555	D	3.005	0.85968	M	1.5	0.31205	T	-4.33	0.76740	D	0.675	0.68255	-0.6539	0.62543	T	0.204	0.56169	T	10	0.55240273	0.64329	D	0.073507	0.71808	D	0.334	0.65620	0.623	0.75803	0.339074221408	0.33521	0.7278595298298922	0.72729	0.980102357514	0.73713	0.480125129223	0.36074	T	0.145136	0.48211	T	-0.159407	0.26850	T	-0.297626	0.44974	T	0.990808725357056	0.81037	D	0.893711	0.63166	D	0.32732648	0.55251	0.19028941	0.42423	0.32732648	0.55251	0.19028941	0.42422	-8.701	0.65752	D	.	.	0.342	0.57999	A	.;.	.;.	5.150058	0.86250	28.8	0.99957695379083533	0.99986	0.94260	0.60603	D	AEFDBI	0.673330	0.63943	D	0.747790566540717	0.82761	7.843004	0.712992957982261	0.83363	8.002639	0.985296799254257	0.30862	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	5.988000	0.70255	11.520000	0.93042	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.388	0.90416	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1734.33	186	chr12	122190267	.	G	A	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.697;DP=979;ExcessHet=0;FS=2.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.435;SOR=0.529	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V,LRRC43:NM_152759:exon5:c.A256G:p.I86V	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.040936	0.000000	0.025862	0.009146	0.000000	0.02632	1988.33	192	chr12	122190278	.	A	G	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.122;DP=900;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.58;SOR=0.781	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	122206667	122206667	G	A	exonic	B3GNT4	.	nonsynonymous SNV	B3GNT4:NM_001330492:exon2:c.G341A:p.S114N,B3GNT4:NM_030765:exon3:c.G416A:p.S139N	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00269714278124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.581	0.08476	T	0.002	0.09854	B	0.007	0.12992	B	0.022348	0.26651	N	0.329119	1	0.08975	N	-0.24	0.03895	N	0.94	0.43672	T	0.55	0.02853	N	0.071	0.04426	-1.0656	0.10409	T	0.051	0.21883	T	10	0.1209864	0.22927	T	0.002697	0.05550	T	0.024	0.04979	0.403	0.43408	0.394837016283	0.39092	0.342173162330503	0.34130	0.0111119512889	0.01037	0.670337915421	0.62885	T	0.010468	0.09450	T	-0.289032	0.09733	T	-0.652951	0.08748	T	0.208402395248413	0.20870	T	0.660434	0.26965	T	0.1407227	0.32456	0.103310645	0.24784	0.1407227	0.32456	0.103310645	0.24783	-3.557	0.17239	T	.	.	0.117	0.23605	B	.;.;.	.;.;.	1.330599	0.17359	13.12	0.95727296281055663	0.27661	0.20816	0.21179	N	AEFDBHCI	0.120001	0.23396	N	-0.63823699634185	0.17803	0.9192746	-0.542492953872185	0.21005	1.13431	0.999994383161048	0.74766	0.413467	0.06321	2	0.573116	0.20632	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	5.0	2.06	0.25932	0.989000	0.29229	5.169000	0.47821	0.676000	0.76740	0.037000	0.20830	1.000000	0.68203	0.802000	0.37819	0.3677:0.2049:0.4274:0.0	3.264	0.06456	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1996.33	33	chr12	122206667	.	G	A	1996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.597;DP=877;ExcessHet=0;FS=3.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.343;SOR=0.884	GT:AD:DP:GQ:PL	0/1:67,77:144:99:2010,0,1993	18	0	1	0
chr12	122547931	122547931	C	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon12:c.C949T:p.L317F	.	522	997	3	0	0	3	0.00150225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0101571806243	0.0024	0.000998403	0.0045	0.0008	0.0024	0	0.0021	0.0076	0	0.0027	0.0020569	318	154602	rs61751321	0.0027	0.0028	0.0027	0.0027	0.0030	0.0026	0.0026	0.0027	0.0027	0.0004	0.0006	0.0111	0	0.0008	0.0021	0.0028	0.0031	0.0030	0.0020	0.0020	0.0021	0.0018	0.0031	0.0018	0.0017	0.0025	0.0024	0.0006	0	0.0009	0.0127	0	0.0003	0.0034	0.0029	0.0009	0.0031	0.233	0.44694	T	0.024	0.56640	D	0.983	0.65571	D	0.799	0.60933	P	0.000444	0.44317	D	0.201753	0.562741	0.32227	D	2.32	0.66415	M	2.3	0.16953	T	-1.54	0.37375	N	0.306	0.37613	-1.1594	0.00771	T	0.082	0.32411	T	10	0.010035694	0.00225	T	0.010157	0.26368	T	0.076	0.22200	.	.	0.287603790349	0.28378	0.31912038178375274	0.31825	0.277545592403	0.30233	0.476057469845	0.35514	T	0.019159	0.17926	T	-0.447948	0.01161	T	-0.419274	0.31159	T	0.0565179828685247	0.06610	T	0.834817	0.50983	T	0.12697151	0.29725	0.12049781	0.29079	0.12697151	0.29725	0.12049781	0.29078	-5.351	0.40445	T	.	.	0.286	0.51840	B	.;.	.;.	4.625816	0.73504	26.0	0.99476121267624085	0.66633	0.89329	0.49728	D	AEFBI	0.277453	0.39196	N	0.527346007649912	0.68714	5.25519	0.513940148436744	0.68928	5.288114	0.970816510363126	0.29236	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	3.312000	0.51637	7.662000	0.64290	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.8244:0.1756:0.0	12.922	0.57632	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.050000	0.000000	0.003067	0.000000	0.02632	1248.33	35	chr12	122547931	.	C	T	1248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.9;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1144	18	0	1	0
chr12	122615485	122615485	A	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon57:c.A5989C:p.K1997Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00943117274299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.30656	T	0.033	0.55341	D	0.97	0.58077	D	0.857	0.61644	P	0.000005	0.62929	D	0.166511	0.998947	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-1.38	0.43334	N	0.352	0.39356	-1.0006	0.29746	T	0.149	0.47505	T	10	0.34580562	0.51547	T	0.009431	0.24716	T	0.193	0.47281	0.563	0.68364	0.539612970712	0.53614	0.27815235297540963	0.27728	0.115907379964	0.13073	0.424134016037	0.28405	T	0.02305	0.18717	T	-0.0724529	0.40933	T	-0.34185	0.40135	T	0.969832837581635	0.68732	D	0.906409	0.68582	D	0.18983267	0.40542	0.14710626	0.34826	0.18983267	0.40542	0.14710626	0.34825	-3.421	0.15340	T	.	.	0.132	0.28377	B	.;.;.	.;.;.	4.624262	0.73463	26.0	0.9944728872124966	0.65071	0.99240	0.93297	D	AEFBI	0.698582	0.65621	D	0.684959664475232	0.78645	6.913845	0.72222128592394	0.84066	8.189662	0.999443879354605	0.39736	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.17	6.17	0.99707	5.199000	0.64988	11.202000	0.89070	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.484	0.84016	633	0.64743	RZZ complex, subunit KNTC1/ROD, C-terminal;RZZ complex, subunit KNTC1/ROD, C-terminal;RZZ complex, subunit KNTC1/ROD, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	135.33	11	chr12	122615485	.	A	C	135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=567;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.64;ReadPosRankSum=0.445;SOR=1.445	GT:AD:DP:GQ:PL	0/1:17,7:24:99:149,0,505	18	0	1	0
chr12	122702194	122702198	AAGGA	-	exonic	HCAR2	.	frameshift deletion	HCAR2:NM_177551:exon1:c.1086_1090del:p.P363Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs63475561	8.971e-05	0.0006	9.948e-05	7.984e-05	0.0023	7.697e-05	7.241e-05	0.0019	0.0018	0.0004	2.238e-05	0	0.0023	0	0.0002	3.599e-06	0.0002	0.0001	0.0003	0.0016	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0002	0	0.0012	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36.29	35	chr12	122702193	.	TAAGGA	T	36.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=795;ExcessHet=0;FS=18.458;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.48;MQRankSum=-10.48;QD=0.27;ReadPosRankSum=-4.658;SOR=3.872	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1706	18	0	1	0
chr12	122703204	122703204	A	G	exonic	HCAR2	.	nonsynonymous SNV	HCAR2:NM_177551:exon1:c.T80C:p.V27A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00206751157435	.	0.000199681	6.59e-05	9.612e-05	0	0.0001	0	1.498e-05	0	0.0003	1.94e-05	3	154602	rs3196376	4.378e-05	5.336e-05	3.675e-05	5.088e-05	0.0003	3.509e-05	3.193e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0.0002	0	0	2.428e-05	6.623e-05	0.0003	6.584e-05	8.537e-05	9.016e-05	4.041e-05	0.0002	3.523e-05	2.621e-05	4.735e-05	3.051e-05	0.0001	0	0	0	0.0002	0	0	4.423e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.165637	0.17527	N	0.526469	0.999999	0.08975	N	-2.05	0.00173	N	1.27	0.36146	T	1.1	0.01229	N	0.034	0.00942	-0.9687	0.37468	T	0.022	0.09330	T	10	0.013396472	0.00284	T	0.002068	0.03801	T	0.042	0.11227	.	.	0.0954503805726	0.09146	0.10400648141999637	0.10330	0.868613176099	0.69318	0.278672128916	0.07309	T	0.044014	0.26683	T	-0.570438	0.00220	T	-0.752624	0.03385	T	0.0270952207729064	0.01557	T	0.10459	0.00778	T	0.02051744	0.00613	0.03565668	0.02858	0.02051744	0.00612	0.03565668	0.02858	-0.628	0.00668	T	.	.	0.057	0.00533	B	.	.	-0.308498	0.02580	0.316	0.46546000455462566	0.03736	0.06002	0.11966	N	AEFDGBHCI	0.036737	0.04943	N	-1.58521522868767	0.01340	0.05838344	-1.4840510780623	0.02475	0.1138793	0.999975812068273	0.50053	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	0.435	0.15757	0.194000	0.16941	2.146000	0.30877	-0.689000	0.04143	0.029000	0.20367	0.991000	0.31484	0.068000	0.16518	0.216:0.117:0.667:0.0	8.301	0.31175	480	0.77422	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3310.33	35	chr12	122703204	.	A	G	3310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=1148;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.6;MQRankSum=-15.34;QD=11.74;ReadPosRankSum=0.259;SOR=0.713	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,105,1681	18	0	1	0
chr12	122729619	122729619	G	A	exonic	HCAR1	.	nonsynonymous SNV	HCAR1:NM_032554:exon1:c.C721T:p.L241F	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0188093097858	0.0010	0.00219649	0.0023	9.614e-05	0.0013	0	0.0003	0.0019	0.0055	0.0078	0.0022639	350	154602	rs140482291	0.0021	0.0021	0.0019	0.0024	0.0140	0.0021	0.0021	0.0116	0.0107	0.0007	0.0020	0.0081	0	0.0005	0.0140	0.0017	0.0028	0.0081	0.0016	0.0016	0.0015	0.0017	0.0066	0.0014	0.0014	0.0048	0.0042	0.0004	0	0.0019	0.0066	0	0.0003	0.0068	0.0019	0.0047	0.0066	0.011	0.55530	D	0.03	0.54159	D	0.998	0.73220	D	0.983	0.75793	D	0.037419	0.24405	N	0.295265	0.999998	0.08975	N	1.93	0.51437	L	0.99	0.41750	T	-2.22	0.49846	N	0.135	0.13198	-0.8322	0.53159	T	0.226	0.59108	T	10	0.007065475	0.00161	T	0.018809	0.40992	T	0.256	0.56694	.	.	0.637577279198	0.63459	0.30858399806346204	0.30771	0.650799847485	0.58349	0.424611747265	0.28471	T	0.140204	0.47462	T	-0.366664	0.03766	T	-0.294898	0.45261	T	0.0235094242187121	0.01085	T	0.69953	0.30934	T	0.22321285	0.44937	0.23477186	0.48703	0.22321285	0.44937	0.23477186	0.48702	-6.629	0.51274	T	.	.	0.204	0.42948	B	.	.	3.194699	0.43421	21.7	0.99814953146800689	0.89885	0.23035	0.21944	N	AEFBHCI	0.093794	0.18972	N	0.18923069861687	0.50682	3.255928	0.0251009080533347	0.40883	2.447117	0.999939323708171	0.46732	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	4.62	0.56946	0.098000	0.15027	3.535000	0.38974	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.608000	0.31589	0.0918:0.0:0.9082:0.0	10.171	0.42086	459	0.78817	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.013587	0.020468	0.000000	0.017241	0.006098	0.003788	0.02632	2267.33	35	chr12	122729619	.	G	A	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=779;ExcessHet=0;FS=3.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.323;SOR=0.97	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr12	122857133	122857133	G	A	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_001303097:exon18:c.G1733A:p.R578H,HIP1R:NM_001303099:exon18:c.G1697A:p.R566H,HIP1R:NM_003959:exon18:c.G1733A:p.R578H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0226668819166	.	.	6.292e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs773380838	4.935e-05	5.062e-05	5.081e-05	4.785e-05	0.0002	3.966e-05	3.634e-05	7.308e-05	4.94e-05	0	0	0	0.0002	0	0	5.376e-05	3.449e-05	3.787e-05	5.912e-05	5.91e-05	5.137e-05	6.724e-05	0.0004	3.077e-05	2.21e-05	6.806e-05	2.849e-05	2.412e-05	0	6.541e-05	0	0.0004	0	0	7.349e-05	0	0	0.162	0.23541	T	0.114	0.36765	T	0.46	0.36353	P	0.172	0.35394	B	0.003116	0.35419	N	0.310764	0.576171	0.32335	D	1.605	0.40863	L	2.42	0.15376	T	-0.81	0.22294	N	0.16	0.16725	-1.0139	0.25688	T	0.032	0.13679	T	10	0.06375334	0.08352	T	0.022667	0.45580	T	0.041	0.10877	0.246	0.18139	0.176091768786	0.17195	0.09126070047248144	0.09059	0.111349494379	0.12561	0.407982677221	0.26177	T	0.096006	0.39736	T	-0.456672	0.01031	T	-0.614319	0.11637	T	0.0404209735785379	0.03767	T	0.818018	0.47523	T	0.020249203	0.00577	0.025766483	0.00633	0.020249203	0.00577	0.025766483	0.00633	-6.571	0.50831	T	.	.	0.093	0.14155	B	.	.	1.731891	0.22039	15.46	0.99564178698381667	0.71953	0.02300	0.06612	N	AEFDBI	0.081911	0.16580	N	-0.463866975054561	0.23272	1.248559	-0.575472969796277	0.20133	1.083356	0.955668266710698	0.28202	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.56	-0.152	0.12751	0.634000	0.24304	-0.508000	0.08762	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.5523:0.0:0.4477:0.0	7.633	0.27421	313	0.87327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	43	chr12	122857133	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr12	122859081	122859081	G	C	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2179C:p.E727Q	.	405	1114	2	1	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00339457	0.0032	0	0	0	0	0	0	0.0175	0.0016947	262	154602	rs376345720	0.0009	0.0009	0.0005	0.0013	0.0138	0.0008	0.0008	0.0132	0.0129	6.009e-05	4.584e-05	0	5.088e-05	1.94e-05	0.0005	6.314e-06	0.0014	0.0138	0.0006	0.0006	0.0003	0.0009	0.0181	0.0005	0.0005	0.0150	0.0139	4.817e-05	0	0	0	0	0	0	1.471e-05	0	0.0181	1.0	0.00964	T	0.727	0.05221	T	0.012	0.16265	B	0.007	0.12992	B	0.000055	0.53742	D	0.197970	0.998104	0.44513	D	0.765	0.19305	N	2.61	0.13095	T	-0.04	0.07590	N	0.174	0.18649	-1.0729	0.08787	T	0.027	0.11441	T	10	0.010240227	0.00229	T	.	.	.	0.057	0.16321	0.264	0.20946	0.149567049428	0.14543	0.2415942776173896	0.24073	0.0926343724949	0.10456	0.445106774569	0.31276	T	0.062023	0.31806	T	-0.606425	0.00133	T	-0.632187	0.10250	T	0.034111445258388	0.02657	T	0.729427	0.34485	T	0.13527437	0.31401	0.08169845	0.18589	0.13527437	0.31401	0.08169845	0.18588	-3.4	0.15057	T	.	.	0.098	0.16054	B	.	.	2.720462	0.35583	19.94	0.85292725646982259	0.15803	0.96550	0.69701	D	AEFDBI	0.629981	0.61150	D	-0.224162301642529	0.32144	1.810	-0.0191525478594633	0.38851	2.294883	0.999999435049272	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	3.137000	0.50257	8.234000	0.76841	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	15.537	0.75745	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003788	0.02632	895.33	36	chr12	122859081	.	G	C	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=790;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.417;SOR=0.578	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr12	122959875	122959875	C	T	exonic	ABCB9	.	nonsynonymous SNV	ABCB9:NM_001243013:exon2:c.G361A:p.V121M,ABCB9:NM_001243014:exon2:c.G361A:p.V121M,ABCB9:NM_019624:exon2:c.G361A:p.V121M,ABCB9:NM_019625:exon2:c.G361A:p.V121M,ABCB9:NM_203444:exon2:c.G361A:p.V121M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	.	0.00379393	0.0019	0.0002	0.0018	0.0211	0	0.0002	0.0012	0.0002	0.0016623	257	154602	rs3803002	0.0012	0.0012	0.0012	0.0012	0.0375	0.0012	0.0011	0.0360	0.0353	0.0003	0.0011	0.0015	0.0375	0	0	9.803e-05	0.0010	0.0001	0.0009	0.0009	0.0008	0.0009	0.0210	0.0008	0.0007	0.0178	0.0166	9.618e-05	0	0.0005	0.0017	0.0210	0	0	7.349e-05	0.0005	0	0.023	0.52492	D	0.078	0.43159	T	0.753	0.46605	P	0.151	0.35894	B	0.023807	0.26374	N	0.393235	0.70413	0.30075	N	1.175	0.29870	L	-2.22	0.89822	D	-1.3	0.32590	N	0.152	0.16028	-0.0754	0.80656	T	0.420	0.76576	T	10	0.008930504	0.00202	T	.	.	.	0.256	0.56694	.	.	0.905978493904	0.90504	0.424579376834801	0.42374	0.215637207336	0.24097	0.477903723717	0.35768	T	0.161038	0.50513	T	-0.327889	0.06272	T	-0.199744	0.54670	T	0.011419360014893	0.00171	T	0.860614	0.56501	D	0.10114464	0.23889	0.08943146	0.20911	0.10114464	0.23888	0.08943146	0.20911	-5.838	0.44999	T	.	.	0.135	0.32945	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.445058	0.31476	18.75	0.99392811932454939	0.62428	0.75007	0.36708	D	AEFDBI	0.194857	0.32192	N	0.117768959875989	0.47292	2.956968	0.165677214111306	0.47978	3.020172	0.464413952430163	0.20652	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.53	4.63	0.57175	2.114000	0.41535	2.646000	0.33784	0.587000	0.30956	0.969000	0.34210	0.703000	0.26245	0.925000	0.46118	0.0:0.7932:0.135:0.0718	10.533	0.44174	248	0.90287	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.000000	0.000000	0.000000	0.009202	0.003788	0.02632	1785.33	34	chr12	122959875	.	C	T	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=762;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.733;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	18	0	1	0
chr12	122976727	122976727	C	A	exonic	OGFOD2	.	nonsynonymous SNV	OGFOD2:NM_001304833:exon3:c.C263A:p.S88Y,OGFOD2:NM_024623:exon4:c.C83A:p.S28Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0433071290458	.	.	8.379e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750415092	6.842e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.15098	T	0.396	0.92824	T	0.834	0.46206	P	0.218	0.37679	B	0.962304	0.08215	N	0.986437	1	0.08975	N	2.015	0.55033	M	-2.13	0.86349	D	-1.2	0.44471	N	0.56	0.58458	-0.3131	0.74617	T	0.625	0.86792	D	10	0.18780735	0.34307	T	0.043307	0.60915	D	0.297	0.61730	0.298	0.26362	0.805687181342	0.80387	0.4964717508022247	0.49568	0.0868331768913	0.09792	0.475520074368	0.35440	T	0.065876	0.32801	T	-0.0828636	0.39248	T	-0.187676	0.55808	T	0.413287341594696	0.29440	T	0.721228	0.39853	T	0.03084842	0.02821	0.05692559	0.10258	0.03084842	0.02820	0.05692559	0.10257	-5.984	0.46146	T	.	.	0.098	0.58422	B	.;.;.	.;.;.	1.427091	0.18448	13.74	0.98991520286807411	0.49943	0.07367	0.13387	N	AEFDBCI	0.073940	0.14806	N	-0.116496148442952	0.36674	2.123055	-0.154390920172927	0.33240	1.899345	0.999989143352168	0.51787	0.706548	0.73137	0	0.672317	0.65289	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.67	3.78	0.42629	1.472000	0.34984	3.538000	0.38989	0.599000	0.40250	0.026000	0.20160	0.909000	0.28100	0.039000	0.14166	0.3542:0.429:0.2167:0.0	7.508	0.26727	241	0.90582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1712.33	38	chr12	122976727	.	C	A	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.347;DP=811;ExcessHet=0;FS=1.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.79;SOR=0.583	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	122976928	122976928	G	A	exonic	OGFOD2	.	nonsynonymous SNV	OGFOD2:NM_001304833:exon4:c.G361A:p.A121T,OGFOD2:NM_024623:exon5:c.G181A:p.A61T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0936237783502	0.0002	.	4.19e-05	0	8.673e-05	0	0	6.081e-05	0	0	3.88e-05	6	154602	rs376280200	6.158e-05	6.225e-05	6.263e-05	6.052e-05	0.0003	5.096e-05	4.716e-05	6.092e-05	3.826e-05	0	8.947e-05	0.0006	0	0	0.0003	5.306e-05	9.937e-05	4.638e-05	7.228e-05	7.223e-05	5.139e-05	9.414e-05	0.0001	3.971e-05	3.127e-05	4.765e-05	3.339e-05	2.413e-05	0	6.545e-05	0.0006	0	0	0	0.0001	0	0	0.022	0.91255	D	0.059	0.92824	T	0.996	0.68779	D	0.712	0.54560	P	0.000002	0.62929	D	0.098604	1	0.81001	D	2.3	0.65703	M	-2.18	0.86815	D	-1.27	0.69714	N	0.713	0.72388	0.510	0.90694	D	0.750	0.91472	D	10	0.23349324	0.40369	T	0.093624	0.76107	D	0.390	0.70603	.	.	0.848201485793	0.84674	0.6242851283872166	0.62361	0.126736915152	0.14284	0.400595545769	0.25152	T	0.057352	0.43903	T	-0.0333022	0.46935	T	-0.059911	0.66339	T	0.301403164863586	0.25062	T	0.864214	0.56114	D	0.14010675	0.32339	0.15021478	0.35436	0.14010675	0.32338	0.15021478	0.35435	-3.556	0.18553	T	.	.	0.116	0.54434	B	.;.;.	.;.;.	4.097026	0.61058	24.3	0.99908181512743433	0.97801	0.82622	0.41824	D	AEFBCI	0.476320	0.51978	N	0.430593479294555	0.63112	4.538771	0.368606846991963	0.59635	4.14317	0.99999989201145	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	6.626000	0.74117	8.505000	0.77371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:1.0:0.0	16.761	0.85372	241	0.90582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1035.33	38	chr12	122976928	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=760;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.305;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr12	122980367	122980368	CA	-	exonic	ARL6IP4	.	frameshift deletion	ARL6IP4:NM_001002251:exon1:c.163_164del:p.Q55Vfs*206,ARL6IP4:NM_001002252:exon1:c.163_164del:p.Q55Vfs*195,ARL6IP4:NM_001278378:exon1:c.163_164del:p.Q55Vfs*206,ARL6IP4:NM_001278379:exon1:c.163_164del:p.Q55Vfs*75,ARL6IP4:NM_016638:exon1:c.163_164del:p.Q55Vfs*195,ARL6IP4:NM_018694:exon1:c.163_164del:p.Q55Vfs*214	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	7.194e-05	0	0	0	0	5.973e-05	0	0.0005	6.47e-05	10	154602	rs757636429	6.607e-05	7.319e-05	6.277e-05	6.964e-05	0.0037	5.365e-05	4.957e-05	0.0021	0.0017	0	5.775e-05	0	0	0	0.0037	4.56e-05	0.0001	0.0004	0.0001	0.0001	6.428e-05	0.0001	0.0010	6.51e-05	5.322e-05	0.0004	0.0003	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2065.29	33	chr12	122980366	.	TCA	T	2065.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.374;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0.465;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	18	0	1	0
chr12	122980676	122980676	G	T	exonic	ARL6IP4	.	stopgain	ARL6IP4:NM_001002251:exon1:c.G472T:p.E158X,ARL6IP4:NM_001002252:exon1:c.G472T:p.E158X,ARL6IP4:NM_001278378:exon1:c.G472T:p.E158X,ARL6IP4:NM_016638:exon1:c.G472T:p.E158X,ARL6IP4:NM_018694:exon1:c.G472T:p.E158X	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0	0	0	.	0.0167	0	0.0032	0.0002587	40	154602	rs747921915	0.0010	0.0009	0.0010	0.0010	0.0146	0.0010	0.0009	0.0114	0.0103	0.0003	0.0019	0.0089	0	0.0001	0.0146	0.0008	0.0018	0.0011	0.0009	0.0009	0.0009	0.0010	0.0026	0.0008	0.0008	0.0020	0.0018	7.22e-05	0	0.0026	0.0078	0	0	0.0103	0.0009	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.07	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194651	0.73392	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	3.244782	0.44309	21.9	0.9933424560588221	0.59895	0.70631	0.34670	D	ALL	0.172785	0.29983	N	0.743790450399125	0.82500	7.777896	0.520651220342829	0.69381	5.35228	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.289072	0.05449	1	0.372554	0.06265	0	.	.	3.63	3.63	0.40741	2.273000	0.43041	2.368000	0.32412	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	11.154	0.47703	240	0.90628	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014416	0.000000	0.010363	0.047244	0.000000	0.058824	0.000000	0.000000	0.02632	502.33	39	chr12	122980676	.	G	T	502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.631;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.774;SOR=0.864	GT:AD:DP:GQ:PL	0/0:28,0:28:72:0,72,1080	18	0	1	0
chr12	123164082	123164082	G	A	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon19:c.C2776T:p.R926W	.	.	.	.	.	.	.	.	.	.	.	3982473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.00814226352796	.	.	3.295e-05	0	0	0.0001	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs747387863	2.942e-05	2.941e-05	1.361e-05	4.538e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0001	0.0003	0	0	0	0	0	1.079e-05	0	0.0003	3.287e-05	3.284e-05	1.285e-05	5.382e-05	0.0002	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.657e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.006	0.79402	D	.	.	.	.	.	.	0.106829	0.19597	N	0.523950	0.999994	0.08975	N	2.56	0.74772	M	.	.	.	.	.	.	0.266	0.30118	-0.9270	0.44573	T	0.144	0.46623	T	10	0.23975477	0.41122	T	0.008142	0.21572	T	0.277	0.59375	.	.	0.348101942276	0.34424	0.34388896436945887	0.34302	.	.	0.237189263105	0.02543	T	0.287198	0.71454	T	-0.167038	0.25684	T	-0.177391	0.56764	T	0.568173289299011	0.35165	D	0.787421	0.42665	T	0.06007218	0.12282	0.0640045	0.12764	0.06007218	0.12282	0.0640045	0.12764	-5.027	0.37132	T	.	.	0.084	0.23430	B	.;.;.	.;.;.	4.512711	0.70686	25.6	0.998915782934373	0.96589	0.95416	0.64634	D	AEFDGBIJ	0.567658	0.57316	D	0.290926952585833	0.55688	3.732858	0.21084943803579	0.50447	3.236797	0.999999918821054	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	5.03	0.67015	5.666000	0.67729	4.523000	0.43694	-0.163000	0.11536	0.892000	0.31242	1.000000	0.68203	0.197000	0.21808	0.0741:0.0:0.9259:0.0	13.264	0.59556	548	0.72362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2086.33	35	chr12	123164082	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=768;ExcessHet=0;FS=5.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.129;SOR=1.132	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr12	123176748	123176748	T	C	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon16:c.A2396G:p.H799R	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.00397152407045	0.0029	0.00339457	0.0029	0.0008	0.0017	0	0.0026	0.0039	0.0033	0.0029	0.0031824	492	154602	rs117480466	0.0038	0.0038	0.0037	0.0038	0.0042	0.0037	0.0037	0.0041	0.0041	0.0006	0.0019	0.0008	0	0.0037	0.0019	0.0042	0.0030	0.0032	0.0030	0.0030	0.0030	0.0030	0.0046	0.0028	0.0027	0.0041	0.0040	0.0007	0.0296	0.0024	0.0006	0	0.0031	0.0034	0.0046	0.0019	0.0031	.	.	.	0.059	0.53788	T	.	.	.	.	.	.	0.000162	0.48594	D	0.135355	0.999954	0.52396	D	2.76	0.80626	M	.	.	.	.	.	.	0.523	0.55280	-0.1377	0.79221	T	0.376	0.73408	T	10	0.011816144	0.00257	T	0.003972	0.09400	T	0.388	0.70440	.	.	0.626812710122	0.62377	0.19920550495450146	0.19837	.	.	0.534813821316	0.43713	T	0.289603	0.71821	T	-0.251274	0.13941	T	-0.13138	0.60856	T	0.020585498997047	0.00758	T	0.890111	0.62362	D	0.13861176	0.32050	0.18452968	0.41510	0.13861176	0.32050	0.18452968	0.41509	-8.176	0.62263	D	.	.	0.280	0.52068	B	.;.	.;.	3.612804	0.51089	23.0	0.99787476199542713	0.87396	0.93419	0.58167	D	AEFBI	0.256412	0.37534	N	0.635589557730695	0.75438	6.30606	0.604948680576901	0.75296	6.285944	0.47367836779095	0.20728	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	5.32	0.75377	3.329000	0.51774	4.210000	0.42525	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.528	0.61068	529	0.73716	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	971.33	36	chr12	123176748	.	T	C	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.338;SOR=0.788	GT:AD:DP:GQ:PL	0/1:42,42:84:99:985,0,1022	18	0	1	0
chr12	123256943	123256943	A	G	exonic	C12orf65	.	nonsynonymous SNV	C12orf65:NM_001143905:exon3:c.A413G:p.K138R,C12orf65:NM_001194995:exon3:c.A413G:p.K138R,C12orf65:NM_152269:exon3:c.A413G:p.K138R	Combined oxidative phosphorylation deficiency 7, Autosomal recessive;Spastic paraplegia 55, autosomal recessive, Autosomal recessive	5	1507	10	0	0	10	0.00330688	.	.	YES	140299	Combined_oxidative_phosphorylation_defect_type_7|Hereditary_spastic_paraplegia|MTRFR-related_disorder|not_provided|not_specified|Spastic_paraplegia	MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.0071938769051	0.0011	0.00139776	0.0005	0.0027	0.0003	0	0	0.0001	0.0011	0.0008	0.000414	64	154602	rs147328685	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	0.0024	0.0003	0	0	1.872e-05	0.0043	8.454e-05	0.0005	0.0009	0.0008	0.0008	0.0007	0.0010	0.0024	0.0007	0.0007	0.0020	0.0018	0.0024	0	0.0006	0	0	0	0	0.0002	0.0005	0.0010	0.077	0.34095	T	0.067	0.49942	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045636	0.982538	0.39903	D	1.58	0.39772	L	2.76	0.36872	T	-1.38	0.34992	N	0.401	0.46928	-0.8001	0.55139	T	0.146	0.47074	T	10	0.012564033	0.00287	T	0.007194	0.19061	T	0.317	0.63904	.	.	0.556619688028	0.55322	0.29064813456327765	0.28977	0.0395402123316	0.04217	.	.	.	0.016958	0.19862	T	-0.0206502	0.48760	T	-0.267439	0.48078	T	0.0430072025669549	0.04238	T	0.70393	0.31399	T	0.13206269	0.30763	0.19950615	0.43835	0.13206269	0.30763	0.19950615	0.43834	-3.83	0.21253	T	0.24641855373276764	0.33374	0.103	0.19316	B	.;.;.;.	.;.;.;.	3.880964	0.56402	23.7	0.99724395311326375	0.82266	0.99604	0.97902	D	AEBI	0.910932	0.86952	D	0.797922432499068	0.85975	8.739654	0.808228605062644	0.90359	10.37167	0.999999608732579	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	8.885000	0.92067	9.105000	0.78787	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.546	0.67619	467	0.78285	Peptide chain release factor class I/class II;Peptide chain release factor class I/class II;.;Peptide chain release factor class I/class II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003543	0.000000	0.001359	0.003012	0.000000	0.000000	0.000000	0.011364	0.02632	1193.33	34	chr12	123256943	.	A	G	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.664;DP=698;ExcessHet=0;FS=6.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=1.56;SOR=0.262	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.07895	2880.79	37	chr12	123313662	.	T	C	2880.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.604;DP=800;ExcessHet=0.3672;FS=6.012;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.806;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	16	0	3	0
chr12	123321580	123321580	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon17:c.G2278A:p.D760N,SBNO1:NM_018183:exon17:c.G2275A:p.D759N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0170678802019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475388843	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.576e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.40573	D	0.056	0.47828	T	0.999	0.90584	D	0.886	0.68407	P	0.000000	0.84330	D	0.051027	1	0.81001	D	2.415	0.69758	M	1.22	0.37052	T	-3.1	0.63554	D	0.667	0.67564	-0.8178	0.54071	T	0.200	0.55667	T	10	0.43694803	0.57854	T	0.017068	0.38615	T	0.158	0.41098	0.135	0.03920	0.298199939746	0.29431	0.3691525881020521	0.36829	1.67767398834	0.89937	0.788200736046	0.80169	T	0.168436	0.51545	T	-0.149955	0.28317	T	-0.453177	0.27346	T	0.98172003030777	0.74070	D	0.974603	0.90967	D	0.4001578	0.60743	0.25630468	0.51327	0.4001578	0.60743	0.25630468	0.51326	-6.131	0.47769	T	.	.	0.241	0.50862	B	.;.;.	.;.;.	4.332085	0.66395	25.0	0.99932390440890206	0.99439	0.98716	0.85943	D	AEFGBI	0.806380	0.73071	D	0.732377600867274	0.81754	7.596989	0.739194559636542	0.85347	8.553618	0.999999968816612	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.224000	0.77527	7.570000	0.60688	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.307	0.94155	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	34	chr12	123321580	.	C	T	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.3;DP=1033;ExcessHet=0;FS=56.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=0.683;SOR=6.282	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1273	18	0	1	0
chr12	123389537	123389537	A	G	exonic;splicing	KMT5A;KMT5A	NM_001324504:exon3:c.27-2A>G	nonsynonymous SNV	KMT5A:NM_001367386:exon2:c.A97G:p.R33G,KMT5A:NM_020382:exon2:c.A115G:p.R39G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.907669739772	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	.	2.103e-06	3.694e-05	0	4.457e-06	0.0005	3.5e-07	1.3e-07	.	.	0	0	0	0	0	0.0005	0	2.923e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.189	0.33000	T	0.0	0.02946	B	0.001	0.04355	B	0.007754	0.31217	U	0.115461	0.992452	0.23879	N	.	.	.	-5.05	0.98611	D	-0.49	0.15578	N	0.13	0.12484	0.264	0.86978	D	0.840	0.94635	D	10	0.14621931	0.27725	T	0.90767	0.99309	D	0.294	0.61388	0.256	0.19689	0.0675242888579	0.06100	0.3376630383754939	0.33679	0.40466606812	0.41362	0.83784198761	0.87765	D	.	.	.	0.0264722	0.55251	T	-0.199751	0.54670	T	0.478941023349762	0.31858	T	0.467453	0.17034	T	.	.	.	.	.	.	.	.	-8.029	0.61268	D	.	.	0.291	0.52219	B	.;.	.;.	4.594300	0.72701	25.9	0.96582558883335334	0.30340	0.13301	0.17778	N	AEFDBCI	0.091231	0.18480	N	-0.661262429968613	0.17133	0.8790297	-0.651581439516181	0.18177	0.9698619	0.999999993727272	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.606884	0.38211	0	0.581474	0.35302	0	.	.	1.77	-2.02	0.06981	-0.318000	0.08091	4.788000	0.44881	0.452000	0.21348	0.219000	0.24524	1.000000	0.68203	0.996000	0.76049	0.4624:0.312:0.2256:0.0	2.258	0.03811	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	203.35	8	chr12	123389537	.	A	G	203.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.269;DP=252;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.381;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,8:11:58:217,0,58	18	0	1	0
chr12	123430536	123430536	C	T	exonic	RILPL2	.	nonsynonymous SNV	RILPL2:NM_145058:exon2:c.G463A:p.V155M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	0.00279553	0.0019	0	0.0003	0	0	0	0.0033	0.0138	0.0016235	251	154602	rs573820193	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	3.025e-05	8.988e-05	0	0	0	0.0009	2.706e-06	0.0009	0.0133	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0122	0.019	0.50132	D	0.062	0.45318	T	0.884	0.48618	P	0.459	0.46380	P	0.184772	0.17006	N	0.602478	0.939248	0.37254	D	1.845	0.48678	L	0.65	0.52642	T	-0.83	0.22727	N	0.335	0.37613	-0.7237	0.59279	T	0.175	0.51911	T	10	0.007984042	0.00181	T	.	.	.	0.093	0.26882	0.161	0.06507	0.56220600717	0.55883	0.20764980689016083	0.20680	1.24184570704	0.81584	0.435316205025	0.29936	T	0.06008	0.31290	T	-0.538732	0.00341	T	-0.534951	0.18794	T	0.0901841733558839	0.11240	T	0.751525	0.37371	T	0.30669928	0.53499	0.2103535	0.45418	0.30669928	0.53499	0.2103535	0.45417	-5.141	0.38336	T	.	.	0.242	0.47589	B	.	.	3.909569	0.56999	23.8	0.99877138572437563	0.95410	0.89194	0.49513	D	AEFDBI	0.266963	0.38377	N	0.307092670501569	0.56512	3.816022	0.32356857049971	0.56927	3.857009	0.999999893459096	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	4.16	0.48138	2.522000	0.45232	0.352000	0.17487	0.566000	0.28629	0.980000	0.35271	0.004000	0.18990	0.979000	0.57723	0.0:0.7555:0.2445:0.0	16.685	0.85160	304	0.87780	Rab interacting lysosomal protein, dimerization domain|RH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	839.33	35	chr12	123430536	.	C	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=691;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.062;SOR=0.534	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	18	0	1	0
chr12	123466018	123466018	C	T	exonic	SNRNP35	.	nonsynonymous SNV	SNRNP35:NM_022717:exon2:c.C478T:p.R160W,SNRNP35:NM_180699:exon2:c.C493T:p.R165W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0603225758561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249472789	4.788e-06	5.472e-06	4.084e-06	5.5e-06	4.472e-05	1.99e-06	1.28e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.455	0.71248	M	1.44	0.33412	T	-6.83	0.93020	D	0.776	0.89465	-0.8901	0.48925	T	0.162	0.49797	T	10	0.7833727	0.78040	D	0.060323	0.67963	D	0.325	0.64725	0.429	0.47680	0.865004620108	0.86369	0.6972634448193135	0.69667	1.1632284106	0.79547	0.830211937428	0.86595	D	0.34831	0.71631	T	0.183602	0.72374	D	0.10882	0.77494	D	0.991977512836456	0.82352	D	0.973153	0.91743	D	0.5545623	0.70209	0.40638638	0.65013	0.5545623	0.70210	0.40638638	0.65013	-13.585	0.91630	D	.	.	0.930	0.85648	P	.;.;.	.;.;.	5.444026	0.90971	32	0.99919620797664577	0.98654	0.91690	0.54057	D	AEFDBI	0.648996	0.62362	D	0.559107261833453	0.70640	5.531094	0.500282670483798	0.68012	5.161419	0.00364200667853346	0.10216	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	3.95	0.44952	4.113000	0.57593	2.673000	0.33962	0.596000	0.33519	1.000000	0.71638	0.992000	0.31684	0.984000	0.60418	0.2319:0.6267:0.0:0.1414	6.722	0.22523	263	0.89692	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1593.33	37	chr12	123466018	.	C	T	1593.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.685;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	18	0	1	0
chr12	123632402	123632402	T	C	exonic	EIF2B1	.	nonsynonymous SNV	EIF2B1:NM_001414:exon2:c.A58G:p.M20V	Leukoencephalopathy with vanishing white matter, Autosomal recessive	2	1509	10	1	0	12	0.0039604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0223271673525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	2.987e-05	0	0	2.519e-05	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.08310	T	1.0	0.05256	T	0.0	0.07471	B	0.001	0.06944	B	0.000021	0.62929	N	0.188053	0.948057	0.41306	D	-0.315	0.03579	N	-3.57	0.94904	D	-0.58	0.20576	N	0.132	0.15046	-0.4630	0.69967	T	0.491	0.80673	T	10	0.07263377	0.10869	T	0.022327	0.45207	T	0.290	0.60924	0.473	0.54859	0.754392735272	0.75216	0.37401923036828183	0.37315	1.17994158053	0.79994	0.290626674891	0.09013	T	0.340319	0.70936	T	0.0411043	0.57189	T	-0.178733	0.56641	T	0.148655250668526	0.16995	T	0.829517	0.49484	T	0.094777785	0.22291	0.07396527	0.16131	0.094777785	0.22290	0.07396527	0.16130	-2.917	0.25819	T	0.0995479685710039	0.07244	0.081	0.08320	B	.;.;.	.;.;.	1.381182	0.17928	13.45	0.94133713824277498	0.24319	0.71340	0.34971	D	AEFDBI	0.169828	0.29669	N	-0.524368535742626	0.21295	1.129018	-0.302322134418729	0.28025	1.559305	0.999995529408767	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.38	3.03	0.34070	1.749000	0.37946	1.440000	0.26519	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.4918:0.0:0.5082	4.609	0.11779	338	0.86082	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	652.33	43	chr12	123632402	.	T	C	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=760;ExcessHet=0;FS=3.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.187;SOR=0.704	GT:AD:DP:GQ:PL	0/1:39,33:72:99:666,0,893	18	0	1	0
chr12	123671527	123671527	C	T	exonic	TCTN2	.	stopgain	TCTN2:NM_001143850:exon2:c.C103T:p.R35X,TCTN2:NM_024809:exon2:c.C103T:p.R35X	Joubert syndrome 24, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.317944	0.14320	N	0.675840	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.161	0.16864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.562340	0.97721	38	0.99744898231373291	0.83778	0.39613	0.26252	N	AEFDGBCI	0.029505	0.02796	N	0.714168141937916	0.80561	7.321557	0.554787391678584	0.71729	5.699725	0.999998472150117	0.74766	0.766844	0.99359	0	0.516746	0.08562	0	0.685571	0.62057	0	0.554799	0.18163	0	.	.	4.65	3.74	0.42108	1.792000	0.38387	4.593000	0.43966	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.8295:0.0:0.1705	8.296	0.31145	346	0.85643	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2259.33	33	chr12	123671527	.	C	T	2259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=846;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.679;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	18	0	1	0
chr12	123853300	123853300	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon35:c.C6032T:p.S2011L,DNAH10:NM_001372106:exon36:c.C6386T:p.S2129L	.	426	1094	2	0	0	2	0.000913242	.	.	.	2248403	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.636	0.235921408532	.	.	0	0	0	0	0	0	0	0	.	.	.	rs774732784	1.164e-05	1.231e-05	9.537e-06	1.377e-05	0.0009	7.09e-06	5.8e-06	0.0003	0.0002	0	2.245e-05	0	0	0	0.0009	5.4e-06	3.315e-05	3.5e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	2.415e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	U	0.000000	1	0.81001	D	3.36	0.91202	M	.	.	.	.	.	.	.	.	0.030	0.82858	D	0.417	0.76333	T	10	0.8540195	0.84591	D	0.235921	0.88477	D	0.636	0.86078	.	.	0.407357902709	0.40350	0.7544805231164302	0.75395	0.596564890784	0.54890	0.869318246841	0.92471	D	0.182741	0.53486	T	0.208552	0.74693	D	0.14466	0.79844	D	0.973719185660883	0.70209	D	0.989814	0.96735	D	0.89252096	0.90724	0.7738875	0.86656	0.89252096	0.90725	0.7738875	0.86657	-15.519	0.96949	D	.	.	0.802	0.77385	P	.;.	.;.	5.469181	0.91256	32	0.99887583822775261	0.96204	0.98770	0.86628	D	AEFDBI	0.928077	0.91173	D	1.04237256726394	0.96906	15.30927	0.963181801052983	0.97779	16.75093	0.999999999999996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	7.893000	0.85877	7.619000	0.62229	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	20.422	0.99051	553	0.71930	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1494.33	34	chr12	123853300	.	C	T	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=738;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.297;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1122	18	0	1	0
chr12	123881722	123881722	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon50:c.G8378A:p.R2793H,DNAH10:NM_001372106:exon51:c.G8732A:p.R2911H	.	441	1078	2	0	1	3	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	.	0.00379393	0.0005	0	0	0.0114	0	0	0	0.0004	0.0003169	49	154602	rs148844278	0.0005	0.0005	0.0005	0.0005	0.0163	0.0004	0.0004	0.0152	0.0148	3.186e-05	0	0	0.0163	0	0.0002	1.392e-05	0.0004	0.0005	0.0005	0.0005	0.0003	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	0	0	6.539e-05	0	0.0122	0	0	0	0	0.0017	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	U	0.000000	1	0.81001	D	3.47	0.92451	M	.	.	.	.	.	.	.	.	-0.3469	0.73643	T	0.223	0.58716	T	10	0.009575784	0.00216	T	.	.	.	0.507	0.78786	.	.	0.454518106513	0.45074	0.5752456759433772	0.57453	0.711114697105	0.61715	0.750028073788	0.74451	T	0.114717	0.43276	T	-0.14283	0.29441	T	0.0324467	0.72436	D	0.150729462494159	0.17162	T	0.978502	0.92407	D	0.4999333	0.67092	0.34389186	0.60094	0.4999333	0.67093	0.34389186	0.60093	-9.08	0.68210	D	.	.	0.311	0.53853	B	.;.	.;.	4.448065	0.69123	25.3	0.99941352769204594	0.99797	0.99032	0.90231	D	AEFDBI	0.883927	0.81321	D	0.813170060852348	0.86922	9.043726	0.695086003888413	0.82003	7.661236	0.999999999217189	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.0:1.0:0.0	19.859	0.96774	667	0.61242	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001784	0.000000	0.005300	0.000000	0.000000	0.000000	0.003571	0.000000	0.02632	1286.33	42	chr12	123881722	.	G	A	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.51;SOR=0.749	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.05263	2708.83	36	chr12	123916480	.	C	A	2708.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.592;DP=823;ExcessHet=0.119;FS=2.359;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.838;SOR=0.889	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1457	17	0	2	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.05263	1810.83	37	chr12	124012566	.	A	G	1810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.251;DP=886;ExcessHet=0.119;FS=0.997;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.703;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	17	0	2	0
chr12	124343217	124343217	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon34:c.C4694T:p.S1565L,NCOR2:NM_001206654:exon34:c.C4694T:p.S1565L,NCOR2:NM_006312:exon35:c.C4724T:p.S1575L	.	432	1087	3	0	0	3	0.00137804	.	.	.	2197186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0142024057481	0.0005	0.000199681	0.0004	0.0001	0	0	0	0.0006	0.0026	0.0005	0.0004269	66	154602	rs181834930	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	4.517e-05	0.0012	0	1.907e-05	0.0005	0.0010	0.0007	0.0004	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0.0017	0	9.411e-05	0	0.0007	0	0.0002	0.313	0.13971	T	0.077	0.44106	T	0.048	0.22112	B	0.007	0.12992	B	0.105779	0.19643	N	0.487586	1	0.08975	N	.	.	.	0.8	0.48769	T	-2.25	0.50337	N	0.125	0.11769	-1.0134	0.25848	T	0.101	0.37543	T	10	0.025839955	0.00766	T	0.014202	0.34156	T	0.048	0.13305	.	.	0.193917141947	0.19028	0.20801531768688594	0.20717	0.161128748492	0.18189	0.590836822987	0.51612	T	.	.	.	-0.559113	0.00257	T	-0.600531	0.12766	T	0.0212475912132881	0.00826	T	0.879112	0.59504	D	0.03312861	0.03470	0.046183623	0.06381	0.03312861	0.03470	0.046183623	0.06380	-4.605	0.32234	T	.	.	0.066	0.02428	B	.;.;.;.;.	.;.;.;.;.	2.465414	0.31770	18.84	0.78683412585354173	0.12407	0.62938	0.31934	D	AEFBHI	0.202843	0.32940	N	-0.461033581253216	0.23367	1.254362	-0.42400510704001	0.24295	1.329605	0.995107152411084	0.33954	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	3.95	0.44952	3.381000	0.52188	7.115000	0.57578	0.676000	0.76740	0.999000	0.42656	0.997000	0.33255	0.006000	0.07323	0.1134:0.0:0.8866:0.0	10.656	0.44867	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1110.33	33	chr12	124343217	.	G	A	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=725;ExcessHet=0;FS=2.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.361;SOR=1.102	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1322	18	0	1	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del,NCOR2:NM_001206654:exon16:c.1520_1528del:p.Q507_Q509del,NCOR2:NM_006312:exon16:c.1523_1531del:p.Q508_Q510del	.	0	15	9	3	199	214	0.333333	.	.	.	3196719	NCOR2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	26976.9	58	chr12	124402512	.	GGCTGCTGCT	G	26976.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=1396;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.81;ReadPosRankSum=0.377;SOR=0.763	GT:AD:DP:GQ:PL	0/0:0,0:55:99:2234,2223,2244	18	0	1	0
chr12	124402512	124402512	-	GCTGCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1528_1529insAGCAGCAGCAGCAGC:p.Q509_P510insQQQQQ,NCOR2:NM_001206654:exon16:c.1528_1529insAGCAGCAGCAGCAGC:p.Q509_P510insQQQQQ,NCOR2:NM_006312:exon16:c.1531_1532insAGCAGCAGCAGCAGC:p.Q510_P511insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35831183	0.0010	0.0010	0.0010	0.0011	0.0038	0.0010	0.0010	0.0026	0.0025	0.0010	0.0007	0.0028	0.0001	0.0016	0.0038	0.0009	0.0009	0.0029	0.0010	0.0010	0.0010	0.0010	0.0024	0.0009	0.0008	0.0013	0.0010	0.0010	0	0.0003	0.0035	0.0004	0.0026	0	0.0008	0	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	26976.9	58	chr12	124402512	.	G	GGCTGCTGCTGCTGCT	26976.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=1396;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.81;ReadPosRankSum=0.377;SOR=0.763	GT:AD:DP:GQ:PL	0/1:0,23:55:99:2234,1267,1254	18	0	1	0
chr12	124402549	124402549	-	C	exonic	NCOR2	.	frameshift insertion	NCOR2:NM_001077261:exon16:c.1491_1492insG:p.Q498Afs*24,NCOR2:NM_001206654:exon16:c.1491_1492insG:p.Q498Afs*24,NCOR2:NM_006312:exon16:c.1494_1495insG:p.Q499Afs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372331070	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	0.0001	3.933e-05	2.719e-05	2.009e-05	0.0004	0.0004	0.0006	3.665e-05	0.0002	0.0002	0.0003	8.079e-05	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	475.29	43	chr12	124402549	.	G	GC	475.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=1131;ExcessHet=0;FS=3.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-0.592;SOR=1.341	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr12	124402550	124402550	-	GC	exonic	NCOR2	.	frameshift insertion	NCOR2:NM_001077261:exon16:c.1490_1491insGC:p.Q498Hfs*112,NCOR2:NM_001206654:exon16:c.1490_1491insGC:p.Q498Hfs*112,NCOR2:NM_006312:exon16:c.1493_1494insGC:p.Q499Hfs*112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	7.974e-05	0.0002	0	3.901e-05	3.812e-05	0.0007	0.0007	0.0009	1.791e-05	0.0003	0.0002	0.0004	0.0001	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	575.51	43	chr12	124402550	.	T	TGC	575.51	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.72;DP=1124;ExcessHet=0;FS=5.286;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.13;SOR=1.392	GT:AD:DP:GQ:PL	./.:77,0:77:0:0,0,1575	15	0	1	3
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	72.57	45	chr12	124430757	.	G	A	72.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.588;DP=1776;ExcessHet=0.119;FS=186.628;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=0.23;ReadPosRankSum=0.497;SOR=9.994	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	16	0	2	1
chr12	125134065	125134065	G	A	exonic	AACS	.	nonsynonymous SNV	AACS:NM_001319840:exon14:c.G1489A:p.G497S,AACS:NM_001319839:exon15:c.G1612A:p.G538S,AACS:NM_023928:exon15:c.G1612A:p.G538S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.239459598602	.	.	2.579e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs757577125	1.3e-05	1.3e-05	8.168e-06	1.788e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.046461	1	0.81001	D	.	.	.	-0.11	0.64445	T	-5.67	0.87143	D	0.956	0.96531	0.504	0.90597	D	0.613	0.86309	D	10	0.9860214	0.98888	D	0.23946	0.88631	D	0.749	0.91371	0.956	0.99519	0.686724078157	0.68404	0.7942513808147401	0.79378	0.55452773041	0.52192	0.728894948959	0.71345	T	0.453163	0.79321	T	0.184231	0.72431	D	0.286537	0.87471	D	0.929163217544556	0.59306	D	0.979862	0.93146	D	0.92758155	0.93995	0.8931325	0.94489	0.92758155	0.93995	0.8931325	0.94489	-11.414	0.81880	D	.	.	0.881	0.81512	P	.	.	5.447563	0.91008	32	0.99877751065531573	0.95410	0.98971	0.89357	D	AEFDBI	0.884143	0.81360	D	0.668768264094227	0.77588	6.703671	0.648894732231765	0.78527	6.894485	0.999975964731399	0.50053	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.727631	0.95156	0	.	.	5.75	4.86	0.62624	8.784000	0.91456	11.724000	0.94868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0689:0.0:0.9311:0.0	14.878	0.70144	976	0.04745	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	33	chr12	125134065	.	G	A	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.455;DP=739;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.693;SOR=0.767	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1464,0,1391	18	0	1	0
chr12	125350298	125350298	T	C	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon2:c.T914C:p.L305S,TMEM132B:NM_052907:exon2:c.T899C:p.L300S	.	428	1084	9	1	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00276640615797	0.0009	0.000199681	0.0013	0.0001	0.0002	0	0.0002	0.0011	0.0011	0.0048	0.0010931	169	154602	rs200555225	0.0009	0.0009	0.0008	0.0011	0.0035	0.0009	0.0009	0.0031	0.0030	0.0002	0.0002	0.0019	0	0.0006	0.0035	0.0008	0.0011	0.0034	0.0007	0.0007	0.0009	0.0006	0.0029	0.0006	0.0006	0.0018	0.0014	0.0001	0	0.0002	0.0032	0	0.0005	0	0.0010	0.0024	0.0029	0.388	0.10909	T	0.368	0.16570	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	0.999982	0.18198	N	1.485	0.37223	L	2.78	0.11298	T	-0.28	0.11547	N	0.167	0.17691	-0.9915	0.32218	T	0.017	0.06998	T	9	0.008447379	0.00191	T	0.002766	0.05723	T	0.069	0.20116	.	.	0.0716867268079	0.06686	0.3930508275386427	0.39220	0.349863601305	0.36836	0.370817631483	0.20949	T	0.016145	0.13402	T	-0.560917	0.00250	T	-0.578229	0.14704	T	0.00365135908134862	0.00039	T	0.30147	0.05685	T	0.06621497	0.14226	0.069592945	0.14681	0.06621497	0.14226	0.069592945	0.14680	-4.353	0.28914	T	.	.	0.116	0.23219	B	.	.	2.342652	0.30025	18.31	0.92164836560197982	0.21527	0.61715	0.31566	D	AEFBI	0.093761	0.18967	N	-0.555572694554707	0.20309	1.069675	-0.44763021165849	0.23616	1.288808	0.00294680873904276	0.09819	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.34	1.31	0.20837	1.429000	0.34511	1.765000	0.28585	0.665000	0.62972	0.827000	0.30089	0.986000	0.30841	0.999000	0.91618	0.4134:0.1651:0.0:0.4214	3.853	0.08472	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1014.33	39	chr12	125350298	.	T	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=804;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.463;SOR=0.589	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr12	125650766	125650766	G	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon3:c.G248A:p.R83H,TMEM132B:NM_001366854:exon7:c.G1727A:p.R576H,TMEM132B:NM_052907:exon7:c.G1712A:p.R571H	.	.	.	.	.	.	.	.	.	.	.	3616752	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0234836904265	7.7e-05	0.000199681	4.142e-05	0.0003	0	0	0	2.999e-05	0	0	3.88e-05	6	154602	rs374760768	4.104e-05	4.104e-05	3.403e-05	4.813e-05	4.946e-05	3.244e-05	2.919e-05	3.89e-05	3.49e-05	2.987e-05	2.236e-05	0	2.519e-05	1.872e-05	0	4.946e-05	1.656e-05	0	3.283e-05	4.593e-05	1.285e-05	5.371e-05	4.81e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0	0.015	0.52492	D	0.024	0.56640	D	0.083	0.24734	B	0.027	0.21085	B	0.000346	0.45440	D	0.098253	0.999991	0.58761	D	2.78	0.81115	M	0.54	0.54911	T	-3.92	0.73151	D	0.694	0.69913	-0.9017	0.47814	T	0.154	0.48395	T	10	0.19912246	0.35909	T	0.023484	0.46453	T	0.190	0.46781	.	.	0.166414681773	0.16258	0.5424032047070056	0.54165	1.00474942747	0.74539	0.706605672836	0.68102	T	0.264767	0.63658	T	-0.208086	0.19649	T	-0.257242	0.49099	T	0.707202970981598	0.41064	D	0.943806	0.87125	D	0.17087223	0.37688	0.14304848	0.34011	0.17087223	0.37688	0.14304848	0.34010	-9.346	0.72662	D	.	.	0.099	0.21766	B	.;.	.;.	5.235470	0.87887	29.4	0.99900690821979743	0.97275	0.91493	0.53647	D	AEFBHI	0.315130	0.41979	N	-0.332218872655764	0.27931	1.536438	-0.268833305029947	0.29130	1.629664	0.00338464593718881	0.10088	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.620846	0.47308	0	.	.	5.14	3.32	0.37134	4.478000	0.59963	7.431000	0.58793	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1476:0.0:0.8524:0.0	11.312	0.48604	939	0.14249	Transmembrane protein family 132, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1778.33	44	chr12	125650766	.	G	A	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.879;SOR=0.681	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1792,0,1243	18	0	1	0
chr12	128697264	128697264	C	T	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon8:c.C1970T:p.T657I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0438756547655	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs537528291	9.367e-06	1.026e-05	1.133e-05	7.333e-06	0.0002	5.23e-06	4.03e-06	4.22e-06	2.87e-06	3.182e-05	0	0	0	0	0.0002	8.414e-06	0	2.545e-05	6.566e-06	1.312e-05	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.038	0.42783	D	0.151	0.32355	T	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.000000	0.999921	0.51308	D	2.955	0.85029	M	0.56	0.54540	T	-4.05	0.74504	D	0.545	0.57177	-0.1980	0.77722	T	0.369	0.72902	T	10	0.4268121	0.57228	T	0.043876	0.61206	D	0.293	0.61272	0.326	0.30873	0.206203607746	0.20212	0.55772389367847	0.55699	0.48832454763	0.47636	0.718519330025	0.69831	T	0.207055	0.56658	T	-0.150805	0.28186	T	-0.257426	0.49082	T	0.946012437343597	0.62382	D	0.948205	0.79983	D	0.37111798	0.58667	0.34775537	0.60425	0.37111798	0.58668	0.34775537	0.60425	-8.533	0.64647	D	.	.	0.446	0.62028	A	.	.	4.514952	0.70739	25.6	0.99892151916725425	0.96589	0.92222	0.55218	D	AEFBI	0.485933	0.52531	N	0.542501746823266	0.69625	5.383868	0.421841333118117	0.62929	4.516834	0.627581191398353	0.21940	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.05	4.05	0.46415	4.496000	0.60081	7.516000	0.59690	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	16.591	0.84616	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	45	chr12	128697264	.	C	T	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=883;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.462;SOR=0.932	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C,GLT1D1:NM_001366886:exon6:c.C463T:p.R155C,GLT1D1:NM_001366889:exon7:c.C511T:p.R171C	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1346.33	37	chr12	128914983	.	C	T	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.608;DP=768;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.781;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr12	128927120	128927120	A	C	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366888:exon4:c.A173C:p.E58A,GLT1D1:NM_001366887:exon7:c.A455C:p.E152A,GLT1D1:NM_001366886:exon8:c.A581C:p.E194A,GLT1D1:NM_001366889:exon9:c.A629C:p.E210A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	.	.	0.00778754	0.0003	0	0.0106	0	0	0	0.0076	0.0001	0.0008926	138	154602	rs139447877	0.0014	0.0013	0.0015	0.0012	0.0392	0.0013	0.0013	0.0375	0.0368	0.0003	0.0392	0	0.0086	2.952e-05	0.0004	5.748e-05	0.0012	0.0002	0.0025	0.0025	0.0022	0.0028	0.0210	0.0023	0.0022	0.0191	0.0184	0.0004	0	0.0210	0	0.0052	9.438e-05	0	0.0001	0.0038	0.0004	0.039	0.46513	D	0.022	0.57587	D	0.452	0.36118	B	0.108	0.31289	B	.	.	.	.	1	0.81001	D	1.165	0.29723	L	-1.03	0.76430	T	-2.99	0.62151	D	0.271	0.31253	-1.0135	0.25816	T	0.093	0.35336	T	8	0.008359253	0.00190	T	.	.	.	0.389	0.70521	.	.	0.534140917371	0.53064	.	.	.	.	.	.	.	0.432564	0.78029	T	-0.344643	0.05073	T	-0.237845	0.51009	T	0.0168371689370141	0.00437	T	0.90371	0.66210	D	0.12503606	0.29321	0.14630333	0.34666	0.12503606	0.29321	0.14630333	0.34665	-6.791	0.52492	T	.	.	0.112	0.28550	B	.;.	.;.	2.597075	0.33703	19.42	0.98407296399350919	0.41137	0.72431	0.35452	D	AEFBI	0.292905	0.40366	N	-0.291633536655326	0.29470	1.634559	-0.251079824583766	0.29735	1.668296	0.00106912330657544	0.08183	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.89	3.72	0.41857	2.566000	0.45611	5.438000	0.48612	0.756000	0.94297	0.980000	0.35271	1.000000	0.68203	0.189000	0.21571	0.792:0.208:0.0:0.0	8.435	0.31945	994	0.00715	Glycosyl transferase, family 1;Glycosyl transferase, family 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1026.33	33	chr12	128927120	.	A	C	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.215;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1102	18	0	1	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L	.	424	1039	58	1	0	60	0.0280636	.	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034240	0.020202	0.033967	0.046784	0.000000	0.034483	0.036585	0.018939	0.02632	3400.33	34	chr12	129074683	.	G	A	3400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=907;ExcessHet=0;FS=2.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.15;SOR=0.838	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1436	18	0	1	0
chr12	129700216	129700216	C	T	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon2:c.G562A:p.D188N	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0143609685915	7.7e-05	0.00139776	0.0012	0	0.0004	0	0	0.0001	0.0023	0.0074	0.0009702	150	154602	rs369816529	0.0006	0.0006	0.0004	0.0008	0.0070	0.0006	0.0006	0.0066	0.0064	0	6.711e-05	0	0	0	0.0024	0.0002	0.0009	0.0070	0.0003	0.0003	0.0002	0.0005	0.0068	0.0003	0.0002	0.0050	0.0044	0	0	6.532e-05	0	0	0	0.0068	0.0002	0	0.0068	0.497	0.07821	T	0.595	0.08079	T	0.302	0.32608	B	0.076	0.28435	B	0.162005	0.03046	N	1.807300	1	0.08975	N	1.875	0.49914	L	1.01	0.41058	T	-0.78	0.21644	N	0.225	0.25253	-1.0067	0.27943	T	0.121	0.42058	T	9	0.009413928	0.00212	T	0.014361	0.34425	T	0.102	0.29158	.	.	0.171220215726	0.16700	0.2672339194460034	0.26636	0.249042722769	0.27473	0.402424812317	0.25407	T	0.004835	0.04249	T	-0.656044	0.00066	T	-0.711412	0.05223	T	0.0197214533370376	0.00674	T	0.321768	0.06536	T	0.06952621	0.15238	0.042100396	0.04939	0.06952621	0.15238	0.042100396	0.04938	-8.865	0.66823	D	.	.	0.072	0.04080	B	.	.	1.690488	0.21541	15.24	0.97932020970649403	0.36964	0.22004	0.21599	N	AEFDBI	0.147654	0.27138	N	-0.498939651779223	0.22116	1.178626	-0.515219661172057	0.21739	1.177479	0.0176990811700387	0.12979	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.22	3.31	0.37025	1.599000	0.36361	-0.409000	0.09359	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.843000	0.39806	0.0:0.6109:0.3127:0.0764	8.944	0.34909	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.017241	0.006098	0.011364	0.02632	1757.33	36	chr12	129700216	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.854;DP=744;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.736;SOR=0.87	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	18	0	1	0
chr12	130437072	130437072	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon11:c.G1825A:p.E609K,RIMBP2:NM_001351227:exon12:c.G1876A:p.E626K,RIMBP2:NM_001351226:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351228:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351229:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351230:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351231:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351232:exon13:c.G1876A:p.E626K,RIMBP2:NM_001351233:exon14:c.G1549A:p.E517K	.	420	1100	2	0	0	2	0.000908265	.	.	.	2346406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0536073917695	0.0003	0.000399361	0.0003	0	0.0007	0.0001	0	0.0002	0	0.0009	0.0002652	41	154602	rs141816554	0.0001	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0002	0.0002	0	0.0014	9.181e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	2.411e-05	0	0.0008	0.0009	0	0	0.0034	0.0001	0.0005	0.0002	0.052	0.39097	T	0.576	0.08624	T	0.147	0.27870	B	0.015	0.17295	B	0.620034	0.10786	N	0.813751	0.701272	0.35545	D	0.895	0.22405	L	1.57	0.29342	T	-1.15	0.29525	N	0.356	0.39760	-1.0226	0.22866	T	0.056	0.23565	T	10	0.04541567	0.03610	T	0.053607	0.65534	D	0.069	0.20116	.	.	0.460795861206	0.45704	0.4352699410569429	0.43443	0.309426610143	0.33251	0.636753439903	0.58103	T	0.024872	0.18712	T	-0.452539	0.01091	T	-0.527023	0.19585	T	0.0340902893774486	0.02653	T	0.916108	0.70062	D	0.22730565	0.45428	0.13254891	0.31805	0.22730565	0.45428	0.13254891	0.31804	-5.946	0.45825	T	.	.	0.175	0.38354	B	.;.;.	.;.;.	3.179896	0.43155	21.7	0.99567523188944485	0.72197	0.90399	0.51544	D	AEFDBCI	0.643802	0.62028	D	-0.363572522441025	0.26775	1.463966	-0.324442269354729	0.27311	1.514605	0.178395008382057	0.17837	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	2.380000	0.43982	5.687000	0.49320	0.511000	0.23309	0.989000	0.36753	1.000000	0.68203	0.043000	0.14563	0.0:1.0:0.0:0.0	17.499	0.87620	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003539	0.000000	0.004087	0.005882	0.000000	0.000000	0.003067	0.003788	0.02632	1564.33	38	chr12	130437072	.	C	T	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=757;ExcessHet=0;FS=3.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.315;SOR=0.643	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1094	18	0	1	0
chr12	130451329	130451329	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon6:c.G319A:p.A107T,RIMBP2:NM_001351227:exon7:c.G370A:p.A124T,RIMBP2:NM_001351226:exon8:c.G370A:p.A124T,RIMBP2:NM_001351228:exon8:c.G370A:p.A124T,RIMBP2:NM_001351229:exon8:c.G370A:p.A124T,RIMBP2:NM_001351230:exon8:c.G370A:p.A124T,RIMBP2:NM_001351231:exon8:c.G370A:p.A124T,RIMBP2:NM_001351232:exon8:c.G370A:p.A124T,RIMBP2:NM_001351233:exon9:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	4055049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00115451325701	.	.	8.323e-06	0	0	0	0	0	0	6.277e-05	6.5e-06	1	154602	rs745629723	1.164e-05	1.231e-05	9.537e-06	1.378e-05	0.0001	7.09e-06	5.8e-06	5.402e-05	4.046e-05	0	0	0	0	0	0	7.204e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.61	0.07691	T	0.001	0.07471	B	0.0	0.01387	B	0.588326	0.05577	N	1.219460	1	0.08975	N	0.46	0.12951	N	2.1	0.19990	T	-0.46	0.14978	N	0.053	0.02462	-1.0228	0.22802	T	0.017	0.07092	T	10	0.040515184	0.02628	T	0.001155	0.01434	T	0.009	0.00846	0.255	0.19533	0.249502417897	0.24576	0.3141713611893635	0.31330	0.265770280135	0.29129	0.242486655712	0.03018	T	0.02238	0.17263	T	-0.557428	0.00263	T	-0.856955	0.00876	T	0.0379315263778979	0.03320	T	0.640736	0.25328	T	0.032594685	0.03314	0.041019358	0.04567	0.032594685	0.03313	0.041019358	0.04566	-4.012	0.23983	T	.	.	0.066	0.02458	B	.;.;.	.;.;.	-1.479350	0.00307	0.005	0.28306025414935654	0.01447	0.00653	0.02839	N	AEFDBI	0.049364	0.08519	N	-1.9366554606817	0.00288	0.01237145	-2.04891522845264	0.00240	0.01060077	0.999844575140157	0.43971	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	-7.89	0.01040	-3.777000	0.00415	-10.375000	0.00708	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2019:0.2296:0.2624:0.306	0.515	0.00562	990	0.01402	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	43	chr12	130451329	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=904;ExcessHet=0;FS=2.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.224;SOR=0.907	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr12	130456574	130456574	C	G	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G229C:p.A77P,RIMBP2:NM_001351227:exon6:c.G280C:p.A94P,RIMBP2:NM_001351226:exon7:c.G280C:p.A94P,RIMBP2:NM_001351228:exon7:c.G280C:p.A94P,RIMBP2:NM_001351229:exon7:c.G280C:p.A94P,RIMBP2:NM_001351230:exon7:c.G280C:p.A94P,RIMBP2:NM_001351231:exon7:c.G280C:p.A94P,RIMBP2:NM_001351232:exon7:c.G280C:p.A94P	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00343772307036	0.0002	0.000399361	0.0005	9.733e-05	8.669e-05	0	0	0.0003	0.0034	0.0022	0.0003816	59	154602	rs201638148	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0003	0.0015	0.0014	0	0.0002	7.657e-05	0	0	0.0009	0.0002	0.0005	0.0017	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	9.627e-05	0	6.534e-05	0	0	0	0	0.0003	0.0005	0.0019	0.037	0.43085	D	0.207	0.26969	T	0.895	0.49247	P	0.502	0.47702	P	0.000995	0.40743	D	0.166924	1	0.27994	N	2.36	0.67893	M	2.07	0.20387	T	-0.8	0.22078	N	0.371	0.41261	-1.0571	0.12491	T	0.062	0.25815	T	10	0.014695227	0.00309	T	0.003438	0.07755	T	0.083	0.24192	.	.	0.427024044652	0.42321	0.2062256065059655	0.20539	0.359462052903	0.37640	0.311935603619	0.12200	T	0.024769	0.18650	T	-0.470436	0.00845	T	-0.45531	0.27111	T	0.0248071840268435	0.01247	T	0.570643	0.20399	T	0.12527694	0.29371	0.1407031	0.33530	0.12527694	0.29371	0.1407031	0.33530	-2.8	0.08184	T	.	.	0.087	0.11317	B	.;.;.;.	.;.;.;.	1.668903	0.21281	15.13	0.97834097804482223	0.36279	0.81314	0.40744	D	AEFDBI	0.600301	0.59298	D	-0.0114164086729131	0.41337	2.470856	-0.133380780922016	0.34054	1.954644	1.86389875425032E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.18	3.26	0.36471	2.121000	0.41601	-0.426000	0.09253	0.595000	0.32841	0.963000	0.33788	0.000000	0.08366	0.045000	0.14751	0.1513:0.7648:0.0:0.0839	8.572	0.32733	991	0.01385	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.002941	0.000000	0.008621	0.000000	0.000000	0.02632	815.33	35	chr12	130456574	.	C	G	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.147;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-0.256;SOR=0.623	GT:AD:DP:GQ:PL	0/1:79,38:117:99:829,0,2036	18	0	1	0
chr12	130456598	130456598	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G205A:p.D69N,RIMBP2:NM_001351227:exon6:c.G256A:p.D86N,RIMBP2:NM_001351226:exon7:c.G256A:p.D86N,RIMBP2:NM_001351228:exon7:c.G256A:p.D86N,RIMBP2:NM_001351229:exon7:c.G256A:p.D86N,RIMBP2:NM_001351230:exon7:c.G256A:p.D86N,RIMBP2:NM_001351231:exon7:c.G256A:p.D86N,RIMBP2:NM_001351232:exon7:c.G256A:p.D86N	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0123198049309	0.0007	0.000599042	0.0009	9.724e-05	0.0032	0.0001	0	0.0009	0.0034	0.0004	0.0008667	134	154602	rs142828341	0.0007	0.0007	0.0007	0.0008	0.0113	0.0007	0.0007	0.0091	0.0083	0.0004	0.0022	0.0018	0	1.879e-05	0.0113	0.0006	0.0016	0.0003	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0015	0.0020	0	9.416e-05	0.0102	0.0008	0.0024	0.0002	0.003	0.68238	D	0.015	0.61642	D	0.877	0.48223	P	0.326	0.41929	B	0.000034	0.55875	D	0.117593	0.999906	0.81001	D	2.56	0.74772	M	1.53	0.30401	T	-3.78	0.71519	D	0.398	0.43899	-0.8116	0.54454	T	0.112	0.40099	T	10	0.01864928	0.00408	T	0.01232	0.30787	T	0.162	0.41843	.	.	0.577304025972	0.57399	0.3961254726322311	0.39527	0.482082507324	0.47176	0.441673249006	0.30806	T	0.257908	0.62900	T	-0.521214	0.00433	T	-0.527631	0.19524	T	0.0626268939677453	0.07576	T	0.849815	0.54540	T	0.4144924	0.61723	0.22937171	0.48007	0.4144924	0.61724	0.22937171	0.48006	-8.993	0.67652	D	.	.	0.100	0.20313	B	.;.;.;.	.;.;.;.	2.948412	0.39226	20.9	0.99881606308034776	0.95733	0.97156	0.73019	D	AEFDBI	0.814051	0.73637	D	0.46768464857352	0.65213	4.794367	0.461334016345773	0.65450	4.82511	0.999998537992963	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.64	4.64	0.57399	4.695000	0.61453	2.025000	0.30227	0.595000	0.32841	1.000000	0.71638	0.967000	0.29559	0.382000	0.26379	0.0:1.0:0.0:0.0	17.532	0.87714	992	0.01359	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.010204	0.023098	0.008772	0.000000	0.025862	0.000000	0.000000	0.02632	1379.33	35	chr12	130456598	.	C	T	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=760;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.07;SOR=0.895	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr12	131005972	131005972	C	T	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon12:c.C1256T:p.A419V,ADGRD1:NM_001330497:exon13:c.C1352T:p.A451V	.	.	.	.	.	.	.	.	0.0026	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0173930501276	7.7e-05	.	0.0001	9.839e-05	0	0	0	0.0001	0.0011	6.069e-05	9.06e-05	14	154602	rs370959644	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.988e-05	0	3.826e-05	0	0	0.0014	0.0001	0.0001	6.956e-05	5.913e-05	5.909e-05	7.707e-05	4.035e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.239e-05	0	0	6.541e-05	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.005	0.72224	D	0.012	0.16265	B	0.025	0.20508	B	0.000254	0.46924	D	0.147344	0.63153	0.32794	D	.	.	.	0.75	0.50721	T	-1.41	0.36787	N	0.29	0.34659	-1.0548	0.13093	T	0.110	0.39699	T	9	0.21808237	0.38440	T	0.017393	0.39069	T	0.044	0.11924	.	.	0.346085882481	0.34212	0.5922132016132051	0.59151	0.383136898695	0.39647	0.31976005435	0.13385	T	0.045219	0.27056	T	-0.307854	0.07938	T	-0.454286	0.27225	T	0.0760242058509086	0.09471	T	0.743326	0.36245	T	0.09088789	0.21280	0.16907574	0.38915	0.09088789	0.21280	0.16907574	0.38914	-5.832	0.44852	T	.	.	0.119	0.24532	B	.;.	.;.	1.544469	0.19804	14.44	0.99772900693259814	0.86088	0.65512	0.32762	D	AEFBI	0.236886	0.35926	N	-0.279067660664429	0.29956	1.666009	-0.212994508497062	0.31068	1.754881	0.892037327981501	0.25873	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.56	2.64	0.30504	0.443000	0.21360	0.528000	0.19223	-0.306000	0.06133	0.984000	0.35821	0.078000	0.22336	0.147000	0.20199	0.0:0.6308:0.3692:0.0	10.899	0.46248	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1481.33	41	chr12	131005972	.	C	T	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.666;DP=902;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.468;SOR=0.516	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr12	131719498	131719498	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon4:c.G565A:p.V189I,SFSWAP:NM_004592:exon4:c.G565A:p.V189I	.	435	1058	28	1	0	30	0.0139795	.	.	.	2817140	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00437233703301	0.0045	0.00219649	0.0050	0.0009	0.0010	0	0.0068	0.0057	0.0044	0.0093	0.0047735	738	154602	rs35562367	0.0056	0.0056	0.0054	0.0058	0.0107	0.0055	0.0055	0.0101	0.0099	0.0015	0.0016	0.0015	5.038e-05	0.0074	0.0038	0.0057	0.0049	0.0107	0.0044	0.0044	0.0041	0.0047	0.0104	0.0041	0.0040	0.0081	0.0073	0.0010	0	0.0042	0.0017	0	0.0063	0	0.0063	0.0019	0.0104	0.593	0.05755	T	0.741	0.04965	T	0.012	0.16265	B	0.004	0.10090	B	0.063418	0.22027	N	0.532850	0.890863	0.35949	D	-0.585	0.02270	N	2.85	0.10578	T	-0.37	0.13226	N	0.119	0.10911	-0.9502	0.40938	T	0.008	0.02801	T	10	0.0062130988	0.00140	T	0.004372	0.10655	T	0.031	0.07369	.	.	0.123314135267	0.11883	0.07507751784154569	0.07443	0.666889320388	0.59220	0.264494180679	0.05438	T	0.094017	0.39330	T	-0.662726	0.00060	T	-0.717202	0.04932	T	0.0058287017804224	0.00064	T	0.80112	0.44691	T	0.018225698	0.00343	0.0262128	0.00698	0.018225698	0.00343	0.0262128	0.00698	-2.446	0.05573	T	.	.	0.064	0.01762	B	.;.	.;.	0.376821	0.07489	4.131	0.8096812678778319	0.13455	0.58450	0.30645	D	AEFBCI	0.045792	0.07529	N	-1.05591377937999	0.07472	0.3472182	-0.965469141550142	0.10566	0.5329898	0.99624934018087	0.34617	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-3.14	0.04928	0.287000	0.18678	-0.046000	0.12607	-0.244000	0.07312	0.977000	0.34929	0.000000	0.08366	0.322000	0.25017	0.4654:0.0:0.5346:0.0	14.097	0.64559	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.015152	0.05263	2344.83	33	chr12	131719498	.	G	A	2344.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.705;DP=831;ExcessHet=0.119;FS=0.99;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.04;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1167	17	0	2	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.07895	3712.77	33	chr12	131756617	.	A	G	3712.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.88;DP=788;ExcessHet=0;FS=0.656;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=-1.121;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	1	1	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H,SFSWAP:NM_001261411:exon17:c.G2867A:p.R956H	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005181	0.000000	0.002717	0.013986	0.000000	0.000000	0.003049	0.018939	0.02632	685.33	34	chr12	131797354	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.868;DP=691;ExcessHet=0;FS=2.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.599;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr12	131838267	131838267	C	A	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon2:c.C232A:p.L78M	.	405	1114	3	0	0	3	0.00134469	.	.	.	713437	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0182196594421	0.0028	0.00199681	0.0029	0.0013	0.0011	0	0.0005	0.0036	0	0.0049	0.0029495	456	154602	rs143543400	0.0044	0.0044	0.0043	0.0044	0.0052	0.0043	0.0042	0.0048	0.0048	0.0006	0.0018	0.0020	0	0.0011	0.0017	0.0049	0.0038	0.0052	0.0028	0.0028	0.0027	0.0029	0.0046	0.0026	0.0025	0.0035	0.0034	0.0010	0	0.0038	0.0017	0	0.0017	0	0.0039	0.0057	0.0046	0.267	0.16198	T	0.064	0.44905	T	1.0	0.90584	D	0.996	0.84481	D	0.000014	0.62929	D	0.000000	0.999302	0.81001	D	2.06	0.56677	M	0.96	0.42888	T	-1.51	0.36787	N	0.612	0.62866	-0.9421	0.42282	T	0.144	0.46750	T	10	0.016211122	0.00341	T	0.01822	0.40210	T	0.260	0.57221	.	.	0.740732301882	0.73841	0.6324805188749516	0.63182	0.75807356458	0.64108	0.587504863739	0.51143	T	0.116357	0.43564	T	-0.398227	0.02379	T	-0.342883	0.40017	T	0.0124243251831525	0.00204	T	0.822818	0.48291	T	0.26492384	0.49561	0.16964218	0.39013	0.26492384	0.49560	0.16964218	0.39012	-8.324	0.63257	D	.	.	0.210	0.43707	B	.	.	3.489776	0.48768	22.7	0.99390397164035027	0.62292	0.96516	0.69530	D	AEFBI	0.762278	0.69974	D	0.300100182838633	0.56153	3.779777	0.221221981603406	0.51026	3.288854	0.931258775300986	0.27040	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	2.95	0.33285	3.184000	0.50627	0.162000	0.15417	0.599000	0.40250	1.000000	0.71638	0.958000	0.29226	0.885000	0.42453	0.0:0.8474:0.0:0.1526	11.058	0.47147	982	0.03397	Peptidoglycan binding-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	812.33	33	chr12	131838267	.	C	A	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=690;ExcessHet=0;FS=10.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.069;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1026	18	0	1	0
chr12	131920072	131920072	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon26:c.G2897A:p.R966Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0397117102888	.	.	3.353e-05	0	0	0	0	3.069e-05	0	0.0001	2.59e-05	4	154602	rs754938334	2.739e-05	2.736e-05	2.589e-05	2.89e-05	3.238e-05	2.064e-05	1.818e-05	2.37e-05	2.103e-05	2.987e-05	2.237e-05	0	0	0	0	3.238e-05	0	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.101	0.30375	T	0.261	0.22962	T	0.971	0.57185	D	0.461	0.46460	P	0.003059	0.35512	N	0.193768	1	0.81001	D	1.75	0.45442	L	1.01	0.41058	T	-1.72	0.40850	N	0.369	0.41063	-1.0200	0.23715	T	0.101	0.37543	T	10	0.19540828	0.35391	T	0.039712	0.58968	D	0.080	0.23350	0.437	0.48993	0.327946701059	0.32395	0.09735969884179817	0.09666	0.490247172869	0.47758	0.390256166458	0.23705	T	0.195929	0.55216	T	-0.226957	0.17053	T	-0.382257	0.35457	T	0.277687937021255	0.24074	T	0.984801	0.94749	D	0.061334565	0.12687	0.06501328	0.13116	0.061334565	0.12687	0.06501328	0.13116	-6.263	0.48429	T	.	.	0.074	0.05060	B	.	.	4.945033	0.81640	27.6	0.99924958760524785	0.98980	0.76854	0.37727	D	AEFDBHCI	0.210454	0.33634	N	0.334513279010536	0.57928	3.962242	0.316879049653567	0.56530	3.816571	0.997932005705178	0.36211	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	3.27	0.36580	3.562000	0.53522	5.694000	0.49349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.3568:0.0:0.6432:0.0	5.291	0.15037	976	0.04745	Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4578.81	33	chr12	131920072	.	G	A	4578.81	.	AC=2;AF=0.053;AN=38;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.58;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	18	1	0	0
chr12	131932268	131932268	G	A	exonic	PUS1	.	nonsynonymous SNV	PUS1:NM_001002019:exon3:c.G313A:p.D105N,PUS1:NM_001002020:exon3:c.G313A:p.D105N,PUS1:NM_025215:exon3:c.G397A:p.D133N	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	.	142562	Inborn_mitochondrial_myopathy|Sideroblastic_anemia|PUS1-related_disorder|not_specified|not_provided|Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1	Human_Phenotype_Ontology:HP:0003737,Human_Phenotype_Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670,Orphanet:206966|Human_Phenotype_Ontology:HP:0001924,Human_Phenotype_Ontology:HP:0100791,MONDO:MONDO:0015194,MedGen:C0002896,Orphanet:1047|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024553,MedGen:C4551958,OMIM:600462,Orphanet:2598	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0029	0.0311502	0.0162	0.0028	0.0049	0.0310	0.0005	0.0030	0.0089	0.0845	0.0149093	2305	154602	rs76655496	0.0095	0.0095	0.0075	0.0116	0.0798	0.0094	0.0093	0.0782	0.0776	0.0013	0.0043	0.0013	0.0239	0.0011	0.0042	0.0045	0.0119	0.0798	0.0068	0.0068	0.0056	0.0080	0.0909	0.0065	0.0063	0.0839	0.0811	0.0021	0	0.0037	0.0012	0.0326	0.0016	0	0.0037	0.0076	0.0909	0.228	0.40573	T	0.411	0.35330	T	0.024	0.20732	B	0.065	0.27321	B	0.000001	0.62929	D	0.095385	1	0.81001	D	1.605	0.40863	L	0.44	0.56609	T	-1.09	0.66206	N	0.444	0.65074	-1.0051	0.28427	T	0.084	0.32872	T	10	0.002247721	0.00033	T	.	.	.	0.109	0.30843	.	.	.	.	0.6149024543921929	0.61422	0.511382231021	0.49213	0.597359895706	0.52532	T	0.055613	0.38702	T	-0.445924	0.01193	T	-0.350783	0.39114	T	0.0176558024964372	0.00497	T	0.960504	0.88325	D	0.33064437	0.55524	0.17950864	0.40690	0.38453418	0.59642	0.14937331	0.35271	-10.094	0.74472	D	0.20681210837721148	0.27627	0.240	0.64169	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.147416	0.62187	24.4	0.9973716097631441	0.83192	0.97619	0.75946	D	AEFBCI	0.921696	0.89556	D	0.0636293898529792	0.44772	2.745185	0.235294112049143	0.51817	3.361038	0.999999999999997	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.972000	0.87634	11.604000	0.93497	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	0.0:0.0:1.0:0.0	18.852	0.92204	976	0.04745	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76655496	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	2383.33	38	chr12	131932268	.	G	A	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=819;ExcessHet=0;FS=4.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-3.01;SOR=0.442	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	18	0	1	0
chr12	131986623	131986623	C	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon6:c.C2039A:p.P680H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.115347263363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.974	0.57829	D	0.724	0.55036	P	0.000036	0.55875	D	0.165060	0.999972	0.19599	N	.	.	.	-2.72	0.90848	D	-3.45	0.69357	D	0.49	0.55886	0.155	0.85142	D	0.763	0.91932	D	10	0.6372287	0.68851	D	0.115347	0.79449	D	0.419	0.72855	.	.	0.701248488981	0.69865	0.27884371398960556	0.27797	0.174476109187	0.19649	0.379848241806	0.22235	T	.	.	.	0.0803606	0.62083	D	-0.122344	0.61609	T	0.924089193344116	0.58508	D	0.79822	0.44280	T	.	.	.	.	.	.	.	.	-5.812	0.44679	T	.	.	0.120	0.31608	B	.;.;.;.	.;.;.;.	2.833109	0.37356	20.5	0.74350277865889469	0.10663	0.97648	0.76144	D	AEFDBI	0.379902	0.46275	N	0.205480389063578	0.51465	3.327454	0.0918570512725766	0.44137	2.701412	0.999999952407902	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.5	0.54382	2.424000	0.44370	4.306000	0.42955	0.549000	0.26987	0.852000	0.30477	0.990000	0.31317	0.095000	0.18041	0.0:0.7874:0.1388:0.0738	9.853	0.40234	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2453.33	35	chr12	131986623	.	C	A	2453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.158;DP=800;ExcessHet=0;FS=1.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.102;SOR=0.88	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	1	0
chr12	132062544	132062544	-	GC	exonic	EP400	.	frameshift insertion	EP400:NM_015409:exon47:c.8177_8178insGC:p.Q2727Hfs*51	.	338	1176	6	0	2	8	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-05	0.0001	0	0	0	3.114e-05	0	0.0003	3.84e-05	1	26028	rs60930033	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0014	0.0014	0.0010	0.0004	0.0005	5.158e-05	0	0.0007	6.996e-05	0.0005	0.0017	0.0008	0.0008	0.0008	0.0008	0.0036	0.0007	0.0007	0.0023	0.0019	0.0014	0	0.0024	0.0006	0	0	0	0.0001	0.0015	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	724.29	36	chr12	132062544	.	A	AGC	724.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.886;DP=1685;ExcessHet=0;FS=5.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=3.45;SOR=1.056	GT:AD:DP:GQ:PL	0/1:86,32:118:99:738,0,3477	18	0	1	0
chr12	132062545	132062545	-	G	exonic	EP400	.	frameshift insertion	EP400:NM_015409:exon47:c.8178_8179insG:p.Q2727Afs*256	.	350	1097	62	8	5	83	0.034331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	9.251e-05	0	0	6.748e-05	0	0.0006	0.0001294	20	154602	.	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0001	0.0011	0.0011	0.0016	0.0002	0.0006	6.286e-05	0	0.0009	6.311e-05	0.0003	0.0014	0.0006	0.0006	0.0006	0.0006	0.0033	0.0005	0.0005	0.0019	0.0015	0.0015	0	0.0009	0.0003	0	0	0	9.95e-05	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	2751.46	36	chr12	132062545	.	A	AG	2751.46	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.31;DP=1686;ExcessHet=0;FS=3.706;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=23.72;ReadPosRankSum=3.78;SOR=1.03	GT:AD:DP:GQ:PL	0/1:84,32:120:99:2763,0,3280	13	0	1	5
chr12	132062549	132062560	CAGCAGCAGCAG	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8182_8193del:p.Q2745_Q2748del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1369487641	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	9.146e-05	0.0003	3.918e-05	0.0004	5.907e-05	0.0004	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0.0008	0	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	32251.8	112	chr12	132062548	.	ACAGCAGCAGCAG	A	32251.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.198;DP=2802;ExcessHet=3.6106;FS=0.541;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=1.18;SOR=0.782	GT:AD:DP:GQ:PL	0/0:54,0:135:99:2905,3166,5858	18	0	1	0
chr12	132139717	132139717	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1892A:p.R631Q	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0202105423929	8.1e-05	0.00139776	0.0006	0	0	0.0059	0	1.524e-05	0	0.0015	0.0005433	84	154602	rs200781935	0.0003	0.0003	0.0002	0.0003	0.0047	0.0002	0.0002	0.0042	0.0040	2.987e-05	0.0002	0	0.0047	1.912e-05	0.0012	2.068e-05	0.0003	0.0014	0.0002	0.0002	0.0002	0.0003	0.0046	0.0002	0.0002	0.0032	0.0027	0	0	0.0001	0	0.0046	9.411e-05	0	4.41e-05	0	0.0012	0.261	0.16520	T	0.416	0.14284	T	0.084	0.24799	B	0.011	0.15521	B	0.031973	0.25095	N	0.418032	0.974492	0.25488	N	0.345	0.11182	N	4.52	0.01997	T	0.21	0.04776	N	0.219	0.24510	-0.9072	0.47191	T	0.003	0.00994	T	10	0.0043263435	0.00087	T	0.020211	0.42757	T	0.043	0.11576	.	.	0.200317383148	0.19677	0.5045826835355963	0.50380	0.0457330530629	0.04962	0.284489572048	0.08127	T	0.00864	0.07919	T	-0.588635	0.00171	T	-0.615002	0.11582	T	0.0213708410688014	0.00840	T	0.626337	0.24237	T	0.028891822	0.02298	0.028687328	0.01129	0.028891822	0.02298	0.028687328	0.01128	-3.809	0.20939	T	.	.	0.076	0.06069	B	.	.	2.013864	0.25593	16.82	0.76682753061124942	0.11567	0.30778	0.24170	N	AEFBCI	0.074414	0.14914	N	-0.837600536967952	0.12357	0.6018355	-0.763481026926097	0.15392	0.8092606	0.0115361716200441	0.12199	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.59	1.17	0.19998	1.653000	0.36940	0.068000	0.14222	0.599000	0.40250	0.991000	0.37257	0.001000	0.17328	0.011000	0.09372	0.0:0.4616:0.2087:0.3297	3.267	0.06464	912	0.21483	Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1428.33	33	chr12	132139717	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=767;ExcessHet=0;FS=2.567;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.383;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	18	0	1	0
chr12	132139895	132139895	G	A	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon13:c.C1805T:p.T602I	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00399361	0.0026	0.0001	0.0002	0	0	0	0.0011	0.0183	0.0021798	337	154602	rs373307850	0.0013	0.0013	0.0007	0.0018	0.0202	0.0012	0.0012	0.0194	0.0191	0	0	0	0	0	0.0007	2.788e-05	0.0015	0.0202	0.0006	0.0006	0.0004	0.0009	0.0192	0.0005	0.0005	0.0161	0.0149	2.405e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0192	0.014	0.53172	D	0.169	0.30534	T	0.154	0.28120	B	0.096	0.30313	B	0.090368	0.20379	N	0.528189	1	0.08975	N	1.64	0.41913	L	4.52	0.01997	T	-2.35	0.51968	N	0.381	0.42247	-0.9927	0.31906	T	0.010	0.03811	T	10	0.01399985	0.00295	T	.	.	.	0.024	0.04979	0.378	0.39319	0.173771789658	0.16945	0.5066355591851106	0.50585	0.0522811991183	0.05748	0.367331445217	0.20448	T	0.097554	0.40049	T	-0.572745	0.00213	T	-0.579229	0.14613	T	0.0363768430400009	0.03046	T	0.962304	0.85835	D	0.07026668	0.15463	0.077966206	0.17419	0.07026668	0.15463	0.077966206	0.17418	-9.369	0.70041	D	.	.	0.093	0.14015	B	.	.	1.495567	0.19233	14.16	0.93376277425863308	0.23122	0.43215	0.27049	N	AEFBCI	0.142757	0.26528	N	-0.783173443084045	0.13748	0.6795659	-0.840740646392144	0.13510	0.7012357	0.0098092879823785	0.11916	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	2.95	0.33285	2.233000	0.42672	3.223000	0.36864	-0.106000	0.15538	0.045000	0.21207	0.789000	0.26847	0.002000	0.04165	0.1814:0.0:0.8186:0.0	9.055	0.35564	912	0.21483	Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1922.33	33	chr12	132139895	.	G	A	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=880;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.095;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	18	0	1	0
chr12	132144113	132144113	G	A	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon1:c.C184T:p.P62S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.021704161931	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs576474727	1.03e-05	5.062e-05	3.566e-06	1.775e-05	0.0004	5.53e-06	4.04e-06	0.0002	0.0002	0	0	0	0	0	0	1.095e-06	2.38e-05	0.0004	6.64e-06	6.577e-06	1.299e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.602	0.05601	T	0.844	0.03569	T	0.005	0.12996	B	0.003	0.08700	B	0.004059	0.01001	U	9.027730	1	0.08975	N	-0.205	0.04094	N	4.69	0.01694	T	0.25	0.04456	N	0.093	0.07262	-0.9338	0.43575	T	0.004	0.01330	T	10	0.030655801	0.01193	T	0.021704	0.44515	T	0.025	0.05312	0.318	0.29581	0.0762999501168	0.06990	0.3119031203318775	0.31103	0.167350641781	0.18878	0.769748091698	0.77387	T	0.002453	0.01845	T	-0.256783	0.13278	T	-0.606627	0.12261	T	0.101646967232227	0.12537	T	0.286771	0.05140	T	0.022510555	0.00919	0.046744056	0.06584	0.022510555	0.00919	0.046744056	0.06583	-5.0	0.36840	T	.	.	0.075	0.05579	B	.	.	0.805327	0.11760	8.336	0.92350808519162042	0.21752	0.01111	0.04064	N	AEFDGBHCI	0.037393	0.05136	N	-1.45523333740337	0.02176	0.09579203	-1.44500934658809	0.02816	0.1302034	0.999999995824628	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.11	1.08	0.19456	0.379000	0.20315	-0.151000	0.11419	-0.798000	0.03190	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.6845:0.1922:0.1232	6.579	0.21779	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	208.33	17	chr12	132144113	.	G	A	208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.72;SOR=0.693	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	18	0	1	0
chr12	132144900	132144900	G	A	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon2:c.G164A:p.R55H	.	421	1084	17	0	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	0.0017	0.00279553	0.0036	0	0.0046	0	0.0005	0.0028	0.0049	0.0102	0.0021669	335	154602	rs142163454	0.0024	0.0024	0.0022	0.0026	0.0091	0.0024	0.0023	0.0086	0.0084	0.0003	0.0019	0	0	0.0004	0.0030	0.0023	0.0020	0.0091	0.0013	0.0013	0.0013	0.0013	0.0060	0.0012	0.0011	0.0043	0.0037	0.0001	0	0.0016	0	0	0.0002	0.0102	0.0020	0.0009	0.0060	0.01	0.56456	D	0.066	0.44501	T	0.999	0.77913	D	0.813	0.58748	P	0.089079	0.20447	N	0.446692	0.934122	0.37077	D	2.505	0.72935	M	-0.2	0.66113	T	-3.13	0.63901	D	0.31	0.34981	-0.2720	0.75758	T	0.357	0.71928	T	10	0.010774463	0.00238	T	.	.	.	0.264	0.57741	.	.	0.62963637804	0.62661	0.22021426462689736	0.21937	.	.	0.499059617519	0.38697	T	0.317207	0.68868	T	-0.36615	0.03794	T	-0.292611	0.45501	T	0.0370812116761807	0.03170	T	0.847215	0.52823	T	0.18378723	0.39662	0.108575374	0.26155	0.18378723	0.39662	0.108575374	0.26155	-8.616	0.65195	D	.	.	0.107	0.19998	B	.	.	4.278281	0.65153	24.8	0.99927545545986973	0.99163	0.63553	0.32125	D	AEFDGBHCI	0.178121	0.30538	N	0.247503049426115	0.53515	3.520055	0.144606866598965	0.46857	2.924916	0.999999595727615	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	4.31	4.31	0.50718	1.389000	0.34060	8.226000	0.76832	0.526000	0.24426	0.920000	0.31959	1.000000	0.68203	0.873000	0.41610	0.0:0.0:1.0:0.0	16.401	0.83480	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002541	0.000000	0.001362	0.005882	0.000000	0.000000	0.006135	0.007634	0.02632	606.33	37	chr12	132144900	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.295;SOR=0.596	GT:AD:DP:GQ:PL	0/1:39,26:65:99:620,0,821	18	0	1	0
chr12	132583288	132583288	T	C	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001382740:exon12:c.T1898C:p.L633P,FBRSL1:NM_001142641:exon17:c.T2648C:p.L883P,FBRSL1:NM_001367871:exon19:c.T2519C:p.L840P,FBRSL1:NM_001382739:exon19:c.T2573C:p.L858P	.	338	1154	27	2	1	32	0.0132535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.193455737509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.945e-06	1.975e-05	3.828e-06	1.238e-05	0.0004	3.42e-06	2.47e-06	2.55e-06	1.68e-06	0	0	0	0	0	0.0004	7.101e-06	2.538e-05	0	2.836e-05	2.788e-05	4.152e-05	1.454e-05	1.624e-05	9.63e-06	5.47e-06	.	.	0	0	0	0	0	0	0	1.624e-05	0.0016	0	0.035	0.43708	D	0.028	0.54934	D	0.998	0.73220	D	0.952	0.69102	D	0.210808	0.16370	U	0.595790	0.999916	0.19599	N	1.3	0.32576	L	1.48	0.31731	T	1.43	0.00805	N	0.041	0.01421	-1.0418	0.16770	T	0.070	0.28642	T	10	0.14024186	0.26658	T	0.193456	0.86304	D	0.072	0.21020	0.184	0.09259	0.238096912614	0.23440	0.042928500816608574	0.04237	.	.	0.690930485725	0.65841	T	0.00117	0.00676	T	-0.255663	0.13411	T	-0.605018	0.12392	T	0.270383417606354	0.23764	T	0.273673	0.04648	T	0.2031736	0.42386	0.17289461	0.39578	0.2031736	0.42386	0.17289461	0.39577	-3.737	0.19865	T	.	.	0.060	0.01834	B	.;.	.;.	1.447798	0.18681	13.87	0.92674108569993696	0.22158	0.00330	0.01723	N	AEFDBI	0.033239	0.03905	N	-0.791393908285427	0.13533	0.6673757	-1.09392316699898	0.07819	0.3818704	0.999993999996639	0.74766	0.72623	0.87236	0	0.633656	0.55848	0	0.594344	0.31042	0	0.604944	0.38103	0	.	.	3.43	-6.87	0.01511	0.176000	0.16596	-2.275000	0.03964	0.501000	0.22741	0.004000	0.16614	0.000000	0.08366	0.025000	0.12405	0.0:0.403:0.2214:0.3756	6.465	0.21180	769	0.49307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	164.6	22	chr12	132583288	.	T	C	164.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=381;ExcessHet=0.119;FS=1.563;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=0.113;SOR=1.179	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	18	0	1	0
chr12	132583288	132583288	T	0	exonic	FBRSL1	.	.	.	.	338	1154	27	2	1	32	0.0132535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	164.6	22	chr12	132583288	.	T	*	164.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=381;ExcessHet=0.119;FS=1.563;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=0.113;SOR=1.179	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	18	0	1	0
chr12	132677403	132677403	G	A	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon8:c.C761T:p.P254L	FILS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	462233	Hereditary_cancer-predisposing_syndrome|POLE-related_disorder|not_specified|Polymerase_proofreading-related_adenomatous_polyposis|Familial_colorectal_cancer_type_X|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374|MONDO:MONDO:0018653,MedGen:C0130294,Orphanet:447877|MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.297	0.0128787333386	.	0.000399361	0.0002	9.61e-05	8.639e-05	0.0001	0	0	0	0.0016	0.000207	32	154602	rs200211438	9.577e-05	9.645e-05	7.351e-05	0.0001	0.0013	8.242e-05	7.783e-05	0.0011	0.0011	2.987e-05	0	0	2.519e-05	0	0	3.597e-06	0.0003	0.0013	8.545e-05	8.533e-05	2.572e-05	0.0001	0.0025	4.959e-05	3.964e-05	0.0014	0.0011	0	0	6.543e-05	0	0	0	0	0	0	0.0025	0.082	0.33254	T	0.251	0.23776	T	0.589	0.39027	P	0.099	0.30579	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	3.02	0.08986	T	-6.19	0.90332	D	0.87	0.86725	-1.0425	0.16562	T	0.026	0.11220	T	10	0.15959802	0.29983	T	0.012879	0.31834	T	0.297	0.61730	.	.	0.510872562601	0.50726	0.5469154218592532	0.54617	0.252944212438	0.27862	0.665792942047	0.62238	T	0.377036	0.74030	T	-0.211641	0.19148	T	-0.0957982	0.63721	T	0.156351227009973	0.17598	T	0.827017	0.49049	T	0.20831336	0.43064	0.29710004	0.55743	0.19223946	0.40885	0.27367914	0.53288	-9.087	0.68254	D	.	.	0.127	0.27100	B	.;.	.;.	3.959428	0.58061	23.9	0.91686288816630956	0.20978	0.99661	0.98441	D	AEFDGBI	0.846045	0.76294	D	0.234728798985761	0.52888	3.460346	0.314929910575516	0.56418	3.804931	0.999999999999955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.953000	0.98977	8.599000	0.77719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.707	0.96071	906	0.23090	DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2159.33	33	chr12	132677403	.	G	A	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=791;ExcessHet=0;FS=4.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.254;SOR=1.075	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr12	132717541	132717541	A	C	exonic	PGAM5	.	nonsynonymous SNV	PGAM5:NM_001170543:exon3:c.A473C:p.D158A,PGAM5:NM_001170544:exon3:c.A473C:p.D158A,PGAM5:NM_138575:exon3:c.A473C:p.D158A	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0624698735008	7.7e-05	0.00139776	0.0008	0	0	0	0	0.0002	0.0023	0.0049	0.000705	109	154602	rs374753399	0.0004	0.0004	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	8.946e-05	0	5.038e-05	3.977e-05	0.0016	0.0002	0.0006	0.0047	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	2.407e-05	0	0	0	0	0	0	0.0002	0.0005	0.0052	0.043	0.41364	D	0.277	0.21880	T	0.45	0.36066	B	0.081	0.28987	B	0.003676	0.34636	N	0.342032	0.999266	0.81001	D	0.475	0.13142	N	-0.57	0.71307	T	-2.69	0.57435	D	0.492	0.55453	-0.8772	0.49981	T	0.143	0.46440	T	10	0.01709047	0.00363	T	0.06247	0.68663	D	0.240	0.54500	.	.	0.80841635367	0.80661	0.6628291246251903	0.66219	0.53481705204	0.50869	0.400355875492	0.25118	T	0.13452	0.46581	T	-0.307887	0.07936	T	-0.215179	0.53198	T	0.031879049923245	0.02287	T	0.892211	0.62852	D	0.34753865	0.56875	0.31396988	0.57391	0.34753865	0.56876	0.31396988	0.57390	-8.984	0.67594	D	.	.	0.167	0.36772	B	.;.;.;.	.;.;.;.	2.392805	0.30731	18.53	0.96570464025732572	0.30293	0.98523	0.83690	D	AEFDBI	0.782367	0.71367	D	-0.2192095742632	0.32345	1.823192	-0.0225821244070074	0.38698	2.283605	0.999999999948139	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	6.878000	0.75368	6.953000	0.57030	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	1.0:0.0:0.0:0.0	15.803	0.78247	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1110.33	36	chr12	132717541	.	A	C	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=813;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.043;SOR=0.84	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr12	132816731	132816731	G	A	exonic	GOLGA3	.	nonsynonymous SNV	GOLGA3:NM_001172557:exon3:c.C215T:p.T72M,GOLGA3:NM_005895:exon3:c.C215T:p.T72M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00810703187002	.	.	5.79e-05	0	8.667e-05	0	0	1.506e-05	0	0.0003	4.53e-05	7	154602	rs763136916	4.242e-05	4.241e-05	3.403e-05	5.088e-05	0.0004	3.377e-05	3.065e-05	0.0003	0.0002	5.974e-05	4.473e-05	3.827e-05	2.519e-05	1.873e-05	0	1.799e-05	3.312e-05	0.0004	4.6e-05	4.596e-05	3.854e-05	5.381e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.981e-05	4.828e-05	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0006	0.248	0.17296	T	0.27	0.23638	T	0.087	0.27759	B	0.006	0.12133	B	0.351656	0.04249	N	1.397070	1	0.08975	N	1.59	0.40313	L	1.92	0.31470	T	-0.2	0.14978	N	0.132	0.14196	-1.0231	0.22704	T	0.036	0.15553	T	10	0.0292961	0.01057	T	0.008107	0.21495	T	0.007	0.00512	0.247	0.18293	0.260580752073	0.25663	0.09757750152286984	0.09688	0.115538250481	0.13036	0.222179919481	0.01439	T	0.094863	0.39503	T	-0.514335	0.00474	T	-0.666064	0.07862	T	0.0217044282064772	0.00876	T	0.574243	0.20591	T	0.009691387	0.00003	0.020148171	0.00121	0.009691387	0.00003	0.020148171	0.00121	-5.612	0.42901	T	.	.	0.074	0.05103	B	.;.;.;.	.;.;.;.	0.037452	0.04546	1.236	0.83315891285241872	0.14659	0.12138	0.17083	N	AEFBI	0.055594	0.10208	N	-1.52068948875786	0.01714	0.0750096	-1.49159793586694	0.02412	0.1109212	0.0865332375366682	0.16011	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.54	-0.358	0.11950	-0.325000	0.08019	-0.186000	0.11084	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.435:0.0:0.4632:0.1018	8.132	0.30195	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	34	chr12	132816731	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.986;DP=754;ExcessHet=0;FS=1.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=2.26;SOR=0.919	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5832.79	38	chr12	133057131	.	A	G	5832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.038;DP=1301;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.97;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1311	16	0	3	0
chr12	133121579	133121579	C	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.G340C:p.D114H	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00525391171147	.	0.000399361	0.0027	0	0	0	0.0025	0.0042	0.0053	0.0022	0.0004657	72	154602	rs148080897	0.0015	0.0014	0.0014	0.0016	0.0126	0.0015	0.0014	0.0103	0.0094	9.495e-05	0.0010	0.0037	0	0.0043	0.0126	0.0014	0.0014	0.0021	0.0016	0.0016	0.0016	0.0017	0.0021	0.0015	0.0014	0.0018	0.0017	0.0001	0	0.0017	0.0026	0	0.0051	0	0.0021	0.0038	0.0006	0.008	0.58626	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.40313	L	3.08	0.08460	T	-4.32	0.76655	D	0.127	0.12055	-1.0288	0.20843	T	0.025	0.10866	T	5	0.006249815	0.00141	T	0.005254	0.13402	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.05119870933458279	0.05061	0.116064697105	0.13092	0.301476657391	0.10621	T	0.059445	0.31117	T	-0.592725	0.00161	T	-0.626291	0.10698	T	0.0661600689887891	0.08102	T	0.360464	0.08297	T	0.16370904	0.36530	0.1732918	0.39646	0.16370904	0.36529	0.1732918	0.39645	-6.752	0.52201	T	.	.	0.203	0.42863	B	.	.	2.106485	0.26808	17.25	0.98436527277746133	0.41464	0.10290	0.15837	N	AEFBI	0.057132	0.10617	N	-0.535498910583918	0.20940	1.107668	-0.720208325404347	0.16457	0.8707259	2.64431072120241E-4	0.06244	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.46	0.497	0.16109	-0.306000	0.08217	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.161000	0.23262	0.235000	0.22869	0.0:0.5982:0.1806:0.2211	5.000	0.13603	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1895.33	46	chr12	133121579	.	C	G	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=831;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1364	18	0	1	0
chr12	133121791	133121791	A	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.T128C:p.M43T	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	0.00399361	0.0171	0.0040	0.0051	0	0.0284	0.0135	0.0052	0.0193	0.0028395	439	154602	rs11147241	0.0071	0.0068	0.0068	0.0075	0.0159	0.0070	0.0069	0.0152	0.0149	0.0009	0.0037	0.0231	5.597e-05	0.0236	0.0132	0.0060	0.0074	0.0159	0.0067	0.0067	0.0057	0.0078	0.0141	0.0064	0.0062	0.0114	0.0104	0.0006	0	0.0048	0.0213	0.0002	0.0253	0.0136	0.0073	0.0066	0.0141	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.735	0.44892	L	4.67	0.01735	T	-1.27	0.31981	N	0.303	0.34228	-1.0652	0.10502	T	0.010	0.03537	T	5	0.0045554936	0.00094	T	.	.	.	0.108	0.30607	.	.	0.043077524339	0.03247	0.10339948176292266	0.10269	0.0205511460022	0.02023	0.261319935322	0.05049	T	0.006881	0.06306	T	-0.5581	0.00261	T	-0.560823	0.16299	T	0.0170166397133512	0.00450	T	0.910809	0.68393	D	0.52541	0.68569	0.42895132	0.66593	0.52541	0.68570	0.42895132	0.66593	-5.486	0.41737	T	.	.	0.617	0.69559	P	.	.	2.194521	0.27984	17.65	0.97262635867247871	0.33098	0.16088	0.19225	N	AEFBI	0.066787	0.13095	N	-0.126146370739987	0.36257	2.093278	-0.190241992970159	0.31895	1.809316	0.0900386912113356	0.16099	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	1.244000	0.32381	4.555000	0.43818	0.756000	0.94297	0.001000	0.13787	0.198000	0.23548	0.868000	0.41282	1.0:0.0:0.0:0.0	11.028	0.46973	856	0.34373	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4091.79	46	chr12	133121791	.	A	G	4091.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.67;DP=1027;ExcessHet=0.3672;FS=1.238;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1364	16	0	3	0
chr12	133187891	133187891	G	A	exonic	ZNF268	.	nonsynonymous SNV	ZNF268:NM_001165881:exon3:c.G53A:p.R18Q,ZNF268:NM_001165883:exon3:c.G53A:p.R18Q,ZNF268:NM_001165885:exon3:c.G53A:p.R18Q,ZNF268:NM_003415:exon3:c.G53A:p.R18Q,ZNF268:NM_152943:exon3:c.G53A:p.R18Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00218990161521	.	0.000599042	4.462e-05	0.0002	0	0	0	4.272e-05	0	0	4.53e-05	7	154602	rs184707939	1.107e-05	1.505e-05	9.617e-06	1.255e-05	0.0002	6.56e-06	5.31e-06	7.778e-05	5.515e-05	0	0.0002	0	0	0	0	4.531e-06	6.684e-05	0	0.0001	0.0001	0.0001	0.0001	0.0009	7.093e-05	5.749e-05	0.0006	0.0004	0	0	0.0009	0	0	0	0	0	0.0014	0	0.423	0.22138	T	0.207	0.26969	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	5.72	0.07711	T	-1.84	0.63323	N	0.124	0.21580	-0.9197	0.45594	T	0.010	0.03856	T	8	0.009996086	0.00224	T	0.00219	0.04124	T	0.113	0.31778	0.551	0.66716	0.0482279557977	0.04254	0.047861188964124335	0.04729	0.0872939193085	0.09842	0.327221095562	0.14515	T	0.001197	0.29367	T	-0.237541	0.15665	T	-0.578988	0.14636	T	0.0135277824524129	0.00248	T	0.722728	0.37284	T	0.012054995	0.00026	0.038604524	0.03767	0.012054995	0.00026	0.038604524	0.03767	-3.667	0.20029	T	.	.	0.083	0.14385	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.488582	0.01904	0.158	0.7353986851479789	0.10365	0.00622	0.02746	N	AEFBI	0.027176	0.02175	N	-1.81743057353273	0.00504	0.02168705	-1.91439431327342	0.00458	0.02029354	0.374538334362401	0.19902	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.37	-6.73	0.01586	-1.340000	0.02756	-3.037000	0.03118	-1.386000	0.01155	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7465:0.0:0.2535:0.0	12.015	0.52605	693	0.58582	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1949.33	33	chr12	133187891	.	G	A	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=752;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-3.136;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr12	133221281	133221281	G	A	exonic	ANHX	.	nonsynonymous SNV	ANHX:NM_001191054:exon7:c.C892T:p.R298W,ANHX:NM_001372060:exon8:c.C1204T:p.R402W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00423989117431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386163786	5.564e-05	5.472e-05	5.849e-05	5.272e-05	0.0001	4.519e-05	4.175e-05	5.456e-05	3.683e-05	0.0001	0.0001	0	0	2.95e-05	0	5.191e-05	0.0002	2.524e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	4.83e-05	8.15e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	0.989	0.62824	D	0.248	0.38946	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.52	0.30669	T	-0.57	0.17210	N	0.092	0.07125	-1.0511	0.14092	T	0.027	0.11441	T	8	0.09701359	0.17442	T	0.00424	0.10247	T	0.062	0.17934	0.304	0.27325	0.300449992093	0.29664	0.08090693444020869	0.08025	.	.	0.236495569348	0.02483	T	0.005872	0.05316	T	-0.387212	0.02803	T	-0.600331	0.12783	T	0.165013452935124	0.18234	T	0.444256	0.12390	T	0.052578002	0.09828	0.040173143	0.04279	0.052578002	0.09827	0.040173143	0.04279	-3.582	0.17596	T	.	.	0.090	0.12702	B	.;.	.;.	2.330560	0.29851	18.25	0.96774070861775752	0.31049	0.01090	0.04012	N	AEFBI	0.054420	0.09892	N	-0.888909805864764	0.11105	0.5341617	-1.00809578163504	0.09607	0.47891	2.61942441979862E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.62	0.676	0.17125	0.293000	0.18785	0.438000	0.18395	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2325:0.2026:0.5649:0.0	3.819	0.08341	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	724.33	35	chr12	133221281	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.213;DP=675;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.171;SOR=0.458	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr12	133231583	133231583	C	T	exonic	ANHX	.	nonsynonymous SNV	ANHX:NM_001191054:exon3:c.G311A:p.R104H,ANHX:NM_001372060:exon3:c.G311A:p.R104H	.	.	.	.	.	.	.	.	.	.	.	2357138	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00158733440178	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs756419511	0.0002	0.0001	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	0	2.953e-05	0	0.0002	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	2.406e-05	0	0.0016	0	0.0002	0	0	0.0002	0.0005	0	0.482	0.08188	T	0.41	0.14544	T	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	1.96	0.22270	T	-0.34	0.12661	N	0.124	0.11626	-1.0249	0.22116	T	0.039	0.16935	T	8	0.028970242	0.01025	T	0.001587	0.02548	T	0.086	0.25016	0.543	0.65589	0.0482279557977	0.04254	0.1749943876149045	0.17418	.	.	0.375503480434	0.21618	T	0.27131	0.64364	T	-0.640578	0.00083	T	-0.843664	0.01045	T	0.0122561807044005	0.00198	T	0.518348	0.16810	T	0.03275138	0.03360	0.054215375	0.09283	0.03275138	0.03359	0.054215375	0.09283	-2.786	0.08055	T	.	.	0.086	0.10449	B	.;.	.;.	0.690620	0.10591	7.298	0.92057240201938173	0.21402	0.00273	0.01482	N	AEFDBI	0.017807	0.00493	N	-1.53531020869138	0.01622	0.07092431	-1.61174113173213	0.01585	0.07189369	0.0305840625151526	0.13953	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.88	-5.29	0.02535	-1.306000	0.02844	-4.081000	0.02354	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.0:0.3002:0.0:0.6998	12.257	0.53947	363	0.84772	Homeobox protein SIX1, N-terminal SD domain;Homeobox protein SIX1, N-terminal SD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1774.33	33	chr12	133231583	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=835;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.752;SOR=0.65	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr13	19426516	19426516	A	G	exonic	TPTE2	.	nonsynonymous SNV	TPTE2:NM_001271850:exon5:c.T317C:p.I106T,TPTE2:NM_130785:exon16:c.T1073C:p.I358T,TPTE2:NM_001141968:exon17:c.T971C:p.I324T,TPTE2:NM_199254:exon19:c.T1304C:p.I435T	.	.	.	.	.	.	.	.	0.0014	0.102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0161816214138	0.0002	.	8.291e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs369072535	2.095e-05	2.328e-05	1.882e-05	2.308e-05	0.0002	1.47e-05	1.271e-05	1.864e-05	1.605e-05	0	0	0	0	0	0.0002	2.688e-05	0	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.048	0.46129	D	0.074	0.42976	T	0.035	0.23277	B	0.043	0.26930	B	0.001669	0.38326	N	0.219186	0.673806	0.30340	N	1.545	0.39105	L	-1.89	0.84557	D	-2.97	0.61865	D	0.344	0.38541	-0.3797	0.72660	T	0.451	0.78503	T	9	0.28638715	0.46221	T	0.016182	0.37308	T	0.358	0.67872	.	.	0.811579547373	0.80980	0.46913214362428785	0.46832	0.410825806987	0.41857	0.52453494072	0.42265	T	0.592453	0.86818	D	-0.0352941	0.46646	T	-0.158023	0.58529	T	0.140330612659454	0.16304	T	0.765923	0.39354	T	0.11157093	0.26364	0.083991	0.19290	0.11157093	0.26364	0.083991	0.19290	-6.315	0.52462	T	.	.	0.138	0.39965	B	.;.;.;.;.	.;.;.;.;.	1.771440	0.22528	15.66	0.91459470682994504	0.20730	0.49039	0.28343	N	AEFI	0.164416	0.29081	N	-0.443992450355036	0.23944	1.289417	-0.480401120565978	0.22693	1.233906	5.09657069686303E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.06	2.06	0.25932	4.250000	0.58561	5.045000	0.46946	0.524000	0.24156	0.334000	0.25623	0.326000	0.24349	0.000000	0.00833	1.0:0.0:0.0:0.0	6.163	0.19588	976	0.04745	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000530	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1110.33	66	chr13	19426516	.	A	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.824;DP=1550;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.04;SOR=0.823	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr13	19633910	19633910	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C162G:p.D54E	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0139648806632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	1.363e-06	4.135e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.158	0.31629	T	0.319	0.32965	B	0.06	0.26717	B	0.010228	0.30012	N	0.368409	0.563896	0.32236	D	2.25	0.63811	M	1.03	0.40469	T	-1.55	0.37566	N	0.173	0.18512	-0.8514	0.51871	T	0.122	0.42378	T	10	0.112130105	0.21022	T	0.013965	0.33765	T	0.072	0.21020	0.197	0.10975	0.618824843891	0.61573	0.14317288710260823	0.14240	0.846876937887	0.68356	0.672044754028	0.63129	T	0.014929	0.12621	T	-0.200642	0.20712	T	-0.525985	0.19689	T	0.927994251251221	0.59118	D	0.737326	0.35372	T	0.14136034	0.32576	0.1522391	0.35827	0.14136034	0.32575	0.1522391	0.35826	-2.397	0.05114	T	.	.	0.193	0.41341	B	.	.	2.652119	0.34532	19.65	0.99667818476484715	0.78394	0.87613	0.47210	D	AEFDGBHCI	0.127587	0.24502	N	-0.118706485003527	0.36577	2.116216	-0.159291059258239	0.33053	1.886686	0.999999998624301	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.59	1.86	0.24489	0.217000	0.17389	0.048000	0.13961	0.524000	0.24156	0.996000	0.39380	0.937000	0.28687	0.639000	0.32395	0.0:0.4964:0.1564:0.3472	5.101	0.14094	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1359.33	35	chr13	19633910	.	C	G	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=777;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.526;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	18	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S,PSPC1:NM_001042414:exon9:c.A1349G:p.N450S	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007380	0.017857	0.009642	0.013274	0.000000	0.000000	0.007874	0.000000	0.05263	210.83	34	chr13	19705699	.	T	C	210.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.835;DP=1038;ExcessHet=0.119;FS=1.975;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.64;MQRankSum=-4.063;QD=0.72;ReadPosRankSum=-1.983;SOR=1.046	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	17	0	2	0
chr13	19751378	19751378	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354908:exon4:c.A860G:p.K287R,PSPC1:NM_001354909:exon4:c.A860G:p.K287R,PSPC1:NM_001363660:exon4:c.A860G:p.K287R,PSPC1:NM_001042414:exon5:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00944355419823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.857e-06	6.841e-06	4.143e-06	5.578e-06	1.216e-05	2.02e-06	1.3e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	1.216e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.218	0.26066	T	0.106	0.26037	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.035	0.55589	M	2.08	0.20255	T	-2.03	0.46673	N	0.175	0.31478	-1.1105	0.03027	T	0.054	0.22808	T	10	0.13762301	0.26179	T	0.009444	0.24739	T	0.105	0.29889	0.33	0.31519	0.223474106383	0.21959	0.44563922704505576	0.44481	0.855388780065	0.68728	0.786740779877	0.79946	T	0.091746	0.38860	T	-0.185379	0.22939	T	-0.50406	0.21926	T	0.640917122364044	0.38076	D	0.927007	0.73102	D	0.48643845	0.66290	0.39524958	0.64197	0.48643845	0.66290	0.39524958	0.64197	-7.799	0.59692	D	.	.	0.109	0.20819	B	.;.	.;.	4.145155	0.62139	24.4	0.99827420761190333	0.90939	0.92748	0.56449	D	AEFGBI	0.462400	0.51176	N	0.00668313770960222	0.42159	2.534945	0.146047658156862	0.46932	2.931338	0.915974049894729	0.26499	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.209000	0.58291	7.808000	0.69345	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.705	0.68796	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2863.83	114	chr13	19751378	.	T	C	2863.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.935;DP=812;ExcessHet=0.119;FS=1.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=0.555;QD=13.57;ReadPosRankSum=1.51;SOR=0.74	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	17	0	2	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.02632	2332.33	41	chr13	20189125	.	C	T	2332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=916;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.769;SOR=0.602	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr13	20189241	20189241	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A341G:p.E114G	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1508	13	1	0	15	0.00494886	.	.	YES	53906	Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|not_specified|Ichthyosis,_hystrix-like,_with_hearing_loss|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|not_provided	MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MedGen:CN169374|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	.	0.0006	0.0309505	0.0146	0	0.0003	0.1879	0	0.0014	0.0077	0.0027	0.0131628	2035	154602	rs2274083	0.0054	0.0054	0.0056	0.0053	0.1670	0.0053	0.0053	0.1636	0.1622	5.974e-05	0.0002	0.0140	0.1670	3.786e-05	0.0010	0.0002	0.0060	0.0038	0.0069	0.0070	0.0056	0.0083	0.1785	0.0066	0.0064	0.1689	0.1651	0.0001	0	0.0003	0.0101	0.1785	0	0.0034	0.0004	0.0047	0.0095	0.227	0.18498	T	0.253	0.23501	T	0.001	0.07471	B	0.001	0.04355	B	0.000044	0.53742	D	0.075990	0.999972	0.18612	P	2.005	0.54552	M	-4.58	0.97812	D	0.08	0.06026	N	0.028	0.00717	-0.8292	0.53352	T	0.005	0.01615	T	9	0.0017281473	0.00022	T	.	.	.	0.275	0.59130	.	.	.	.	0.8678752833424769	0.86752	0.0431458183799	0.04650	0.55710464716	0.46858	T	0.492302	0.81631	T	-0.311813	0.07590	T	-0.0768544	0.65133	T	0.0256541232546874	0.01359	T	0.786621	0.42528	T	0.16563806	0.36849	0.15123416	0.35633	0.115492746	0.27252	0.13320166	0.31946	-4.334	0.28651	T	0.11008841477512188	0.09265	0.132	0.28406	B	.;.;.	.;.;.	2.996435	0.40022	21.1	0.90128111114036802	0.19408	0.67256	0.33367	D	AEDBHCIJ	0.308295	0.41492	N	-0.4926003143254	0.22324	1.191154	-0.41438311726541	0.24575	1.346484	0.999999999999985	0.74766	0.764865	0.99124	0	0.61073	0.52368	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	0.431000	0.21163	6.215000	0.55059	0.665000	0.62972	0.018000	0.19461	1.000000	0.68203	0.554000	0.30269	0.0:0.0:0.0:1.0	13.539	0.61123	682	0.59757	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2748.33	41	chr13	20189241	.	T	C	2748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=927;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.551;SOR=0.627	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr13	20512459	20512459	C	T	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.G133A:p.A45T,CRYL1:NM_015974:exon2:c.G133A:p.A45T	.	8	1513	1	0	0	1	0.00033036	.	.	.	3963091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.684	0.13183787148	.	.	3.474e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs756024227	1.574e-05	1.573e-05	1.089e-05	2.063e-05	0.0002	1.048e-05	8.76e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0	8.996e-07	1.656e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.016	0.51853	D	0.018	0.59732	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-1.24	0.78967	T	-3.48	0.68651	D	0.582	0.60579	0.271	0.87081	D	0.604	0.85924	D	10	0.9133247	0.90696	D	0.131838	0.81411	D	0.684	0.88443	0.83	0.93978	0.797878369283	0.79599	0.6814738521243735	0.68086	0.427360445182	0.43082	0.446194142103	0.31424	T	0.62142	0.88139	D	-0.113914	0.34123	T	-0.105214	0.62990	T	0.631456673145294	0.37678	D	0.775922	0.40781	T	0.712079	0.78721	0.44074264	0.67382	0.712079	0.78723	0.44074264	0.67383	-7.263	0.55932	T	.	.	0.323	0.54696	B	.;.;.;.	.;.;.;.	3.547878	0.49856	22.8	0.98897260232116124	0.48109	0.89868	0.50617	D	AEFBI	0.761841	0.69944	D	0.474894390571694	0.65628	4.846515	0.380740400105772	0.60377	4.224711	0.99998256327878	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	5.35	4.5	0.54382	3.718000	0.54647	3.163000	0.36577	0.599000	0.40250	0.996000	0.39380	0.997000	0.33255	0.048000	0.15020	0.1469:0.8531:0.0:0.0	14.649	0.68388	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	36	chr13	20512459	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.327;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr13	20591006	20591006	A	G	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001318491:exon4:c.A193G:p.T65A,IFT88:NM_001353573:exon4:c.A193G:p.T65A,IFT88:NM_001353574:exon4:c.A193G:p.T65A,IFT88:NM_001353575:exon4:c.A193G:p.T65A,IFT88:NM_001353571:exon5:c.A250G:p.T84A,IFT88:NM_001353572:exon5:c.A250G:p.T84A,IFT88:NM_001353578:exon5:c.A250G:p.T84A,IFT88:NM_006531:exon5:c.A250G:p.T84A,IFT88:NM_001318493:exon6:c.A277G:p.T93A,IFT88:NM_001353565:exon6:c.A277G:p.T93A,IFT88:NM_001353567:exon6:c.A277G:p.T93A,IFT88:NM_001353569:exon6:c.A277G:p.T93A,IFT88:NM_001353566:exon7:c.A277G:p.T93A,IFT88:NM_001353570:exon7:c.A277G:p.T93A,IFT88:NM_001353576:exon7:c.A277G:p.T93A,IFT88:NM_001353577:exon7:c.A277G:p.T93A,IFT88:NM_175605:exon7:c.A277G:p.T93A,IFT88:NM_001353568:exon8:c.A250G:p.T84A	.	.	.	.	.	.	.	.	.	.	.	1655186	not_provided|IFT88-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.0233042393531	0.0014	0.00179712	0.0005	0.0055	0.0003	0.0001	0	1.499e-05	0	6.059e-05	0.0004916	76	154602	rs148678288	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0051	0.0049	0.0058	0.0004	0	0	0	0.0016	4.237e-05	0.0008	1.168e-05	0.0014	0.0015	0.0014	0.0015	0.0048	0.0013	0.0012	0.0042	0.0040	0.0048	0	0.0009	0	0	0	0.0034	2.942e-05	0.0024	0	0.16	0.23813	T	0.355	0.18071	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	1.46	0.32482	T	-2.53	0.54864	D	0.736	0.73645	-0.8961	0.48380	T	0.173	0.51579	T	10	0.01053673	0.00234	T	0.023304	0.46264	T	0.131	0.35738	.	.	0.553307244281	0.54988	0.5182235679521918	0.51745	0.0440779985786	0.04745	0.58797121048	0.51208	T	0.263729	0.63544	T	-0.248009	0.14343	T	-0.127243	0.61202	T	0.0528821559847102	0.05999	T	0.913209	0.69058	D	0.2507732	0.48082	0.19941637	0.43822	0.2507732	0.48082	0.19941637	0.43821	.	.	.	.	.	0.130	0.30291	B	.;.	.;.	4.464379	0.69511	25.4	0.99719806139915546	0.81984	0.99047	0.90450	D	AEFI	0.873359	0.79568	D	0.651174638933031	0.76447	6.487821	0.664342512566872	0.79682	7.134444	0.999994640925726	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.43	5.43	0.79006	7.573000	0.81745	11.115000	0.86412	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.950	0.70713	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.015152	0.008152	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1561.33	34	chr13	20591006	.	A	G	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.685;DP=758;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.314;SOR=0.526	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1288	18	0	1	0
chr13	20601932	20601932	G	A	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001318491:exon11:c.G983A:p.S328N,IFT88:NM_001353573:exon11:c.G983A:p.S328N,IFT88:NM_001353575:exon11:c.G983A:p.S328N,IFT88:NM_001353579:exon11:c.G407A:p.S136N,IFT88:NM_001353572:exon12:c.G1040A:p.S347N,IFT88:NM_001353574:exon12:c.G881A:p.S294N,IFT88:NM_006531:exon12:c.G1040A:p.S347N,IFT88:NM_001318493:exon13:c.G1067A:p.S356N,IFT88:NM_001353565:exon13:c.G1067A:p.S356N,IFT88:NM_001353567:exon13:c.G1067A:p.S356N,IFT88:NM_001353571:exon13:c.G938A:p.S313N,IFT88:NM_001353578:exon13:c.G938A:p.S313N,IFT88:NM_001353566:exon14:c.G1067A:p.S356N,IFT88:NM_001353569:exon14:c.G965A:p.S322N,IFT88:NM_175605:exon14:c.G1067A:p.S356N,IFT88:NM_001353568:exon15:c.G1040A:p.S347N,IFT88:NM_001353570:exon15:c.G965A:p.S322N,IFT88:NM_001353576:exon15:c.G965A:p.S322N,IFT88:NM_001353577:exon15:c.G965A:p.S322N	.	11	1503	8	0	0	8	0.00265428	0.0003	0.088	.	1595830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.040	.	.	0.00499201	0.0038	0.0001	0.0006	0.0021	0	4.397e-05	0	0.0243	0.0023932	370	154602	rs182766679	0.0013	0.0012	0.0007	0.0018	0.0183	0.0012	0.0012	0.0175	0.0172	3.205e-05	6.874e-05	0	0.0015	0	0.0009	3.04e-05	0.0015	0.0183	0.0008	0.0008	0.0005	0.0011	0.0207	0.0007	0.0006	0.0174	0.0162	0	0	0	0	0.0025	0	0.0034	0	0.0014	0.0207	0.55	0.06913	T	0.785	0.04260	T	0.0	0.02946	B	0.0	0.01387	B	0.000399	0.44960	N	0.264028	0.899041	0.27737	N	-0.945	0.01271	N	1.56	0.29602	T	-0.63	0.18459	N	0.095	0.07535	-1.0000	0.29917	T	0.030	0.13067	T	10	0.004421115	0.00090	T	.	.	.	0.040	0.10527	.	.	0.213573922156	0.20996	0.3566835636341463	0.35582	0.04256783019	0.04588	0.470571756363	0.34759	T	0.092808	0.39080	T	-0.639389	0.00084	T	-0.676278	0.07212	T	0.00369113634903109	0.00039	T	0.826617	0.49005	T	0.07901627	0.18028	0.07158327	0.15346	0.07901627	0.18027	0.07158327	0.15346	.	.	.	.	.	0.064	0.02927	B	.;.	.;.	1.035842	0.14163	10.74	0.91212909007762766	0.20469	0.57605	0.30420	D	AEFGI	0.097454	0.19655	N	-0.695906245394199	0.16137	0.8195669	-0.520567061717589	0.21595	1.168967	0.318550516716753	0.19360	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.51	0.336	0.15198	1.211000	0.31987	0.932000	0.22787	0.618000	0.50648	0.997000	0.40164	0.478000	0.25088	0.989000	0.64315	0.5686:0.0:0.4314:0.0	10.72	0.45232	558	0.71484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.000000	0.011765	0.000000	0.000000	0.006098	0.007576	0.02632	298.33	34	chr13	20601932	.	G	A	298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.365;SOR=0.46	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr13	20643565	20643565	G	A	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001353573:exon17:c.G1649A:p.R550H,IFT88:NM_001318491:exon18:c.G1736A:p.R579H,IFT88:NM_001353575:exon18:c.G1736A:p.R579H,IFT88:NM_001353579:exon18:c.G1160A:p.R387H,IFT88:NM_001353572:exon19:c.G1793A:p.R598H,IFT88:NM_001353574:exon19:c.G1634A:p.R545H,IFT88:NM_006531:exon19:c.G1793A:p.R598H,IFT88:NM_001318493:exon20:c.G1820A:p.R607H,IFT88:NM_001353565:exon20:c.G1820A:p.R607H,IFT88:NM_001353567:exon20:c.G1820A:p.R607H,IFT88:NM_001353571:exon20:c.G1691A:p.R564H,IFT88:NM_001353578:exon20:c.G1691A:p.R564H,IFT88:NM_001353566:exon21:c.G1820A:p.R607H,IFT88:NM_001353569:exon21:c.G1718A:p.R573H,IFT88:NM_175605:exon21:c.G1820A:p.R607H,IFT88:NM_001353568:exon22:c.G1793A:p.R598H,IFT88:NM_001353570:exon22:c.G1718A:p.R573H,IFT88:NM_001353576:exon22:c.G1718A:p.R573H,IFT88:NM_001353577:exon22:c.G1718A:p.R573H	.	9	1504	9	0	0	9	0.0029831	.	.	.	1592221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00499201	0.0028	9.632e-05	0.0003	0.0015	0.0002	4.507e-05	0.0011	0.0196	0.0024515	379	154602	rs188470141	0.0012	0.0012	0.0007	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	9.011e-05	0.0001	0	0.0015	1.873e-05	0.0009	7.403e-05	0.0015	0.0181	0.0008	0.0008	0.0005	0.0011	0.0203	0.0007	0.0006	0.0171	0.0158	9.63e-05	0	6.536e-05	0	0.0025	0	0.0034	0	0.0014	0.0203	0.218	0.19500	T	0.149	0.33780	T	0.012	0.16265	B	0.001	0.04355	B	0.003193	0.35300	N	0.353703	1	0.08975	N	0.975	0.24501	L	-0.87	0.74583	T	-0.75	0.21003	N	0.11	0.09772	-0.7993	0.55185	T	0.264	0.63534	T	10	0.00960961	0.00216	T	.	.	.	0.087	0.25287	.	.	0.637772331904	0.63479	0.2020895727021521	0.20125	0.0742263244227	0.08323	0.260227262974	0.04917	T	0.17505	0.52449	T	-0.485336	0.00689	T	-0.454991	0.27146	T	0.0118101942175472	0.00183	T	0.794321	0.43637	T	0.036050756	0.04359	0.028611887	0.01113	0.036050756	0.04359	0.028611887	0.01113	.	.	.	.	.	0.068	0.02765	B	.;.	.;.	2.144731	0.27317	17.42	0.68046561351964296	0.08538	0.08402	0.14336	N	AEFI	0.090809	0.18398	N	-0.853058731837649	0.11975	0.5809623	-0.871045158593556	0.12782	0.6595174	0.0185398046386352	0.13069	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.69	3.7	0.41607	1.479000	0.35061	4.414000	0.43291	-0.104000	0.15758	0.060000	0.21767	0.998000	0.33993	0.052000	0.15357	0.329:0.1742:0.4968:0.0	4.453	0.11050	555	0.71762	.;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1374.33	35	chr13	20643565	.	G	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=749;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.05;SOR=0.529	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1472	18	0	1	0
chr13	20703626	20703626	G	C	exonic	IL17D	.	nonsynonymous SNV	IL17D:NM_001385222:exon1:c.G14C:p.G5A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350039667	0	5.155e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	87.58	.	chr13	20703626	.	G	C	87.58	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.834;DP=88;ExcessHet=0;FS=0;InbreedingCoeff=-0.0623;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.341;SOR=0.368	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,35	17	0	1	1
chr13	20975348	20975348	T	C	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon8:c.A2789G:p.N930S	.	435	1081	6	0	0	6	0.00276753	.	.	.	753750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.0240998956226	.	0.00139776	0.0006	0	0.0003	0	0	9.409e-05	0	0.0048	0.0005757	89	154602	rs185845417	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0040	0	0.0003	0	0	0	0.0009	5.794e-05	0.0004	0.0046	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	9.618e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.006	0.12133	B	0.021850	0.26750	N	0.384153	0.71909	0.29940	N	0.61	0.15665	N	-0.08	0.63911	T	0.49	0.02993	N	0.036	0.01068	-0.9941	0.31538	T	0.100	0.37188	T	10	0.008112043	0.00184	T	0.024	0.47083	T	0.083	0.24192	.	.	0.385559283137	0.38164	0.16322622617497426	0.16242	0.472200504928	0.46459	0.373629629612	0.21352	T	0.032905	0.22686	T	-0.598536	0.00149	T	-0.632403	0.10234	T	0.00354309444312185	0.00037	T	0.826617	0.49005	T	0.035344232	0.04141	0.042726293	0.05155	0.032178	0.03192	0.0385344	0.03744	-3.657	0.18685	T	.	.	0.071	0.04002	B	.	.	0.872893	0.12455	8.991	0.54987936237805024	0.05249	0.63361	0.32066	D	AEFDBI	0.118120	0.23111	N	-0.867118602197746	0.11631	0.5623569	-0.706476609167311	0.16799	0.8903947	0.857795525687855	0.25167	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.96	-2.11	0.06787	0.210000	0.17249	-0.833000	0.07248	-0.139000	0.12461	0.975000	0.34726	0.009000	0.19889	0.958000	0.51230	0.0:0.6073:0.0:0.3927	13.987	0.63858	916	0.20744	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	991.33	33	chr13	20975348	.	T	C	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.371;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr13	20981585	20981585	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon6:c.G2546A:p.R849Q	.	425	1095	1	1	0	3	0.00136799	.	.	.	2685651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0223479243451	.	.	8.295e-06	0	0	0	0	0	0	6.116e-05	1.94e-05	3	154602	rs753361598	3.626e-05	3.625e-05	3.131e-05	4.125e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	1.709e-05	4.968e-05	0.0003	4.598e-05	4.597e-05	1.284e-05	8.068e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.981e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0006	0.025	0.47320	D	0.092	0.39954	T	0.627	0.40110	P	0.09	0.29851	B	0.000006	0.62929	D	0.000000	1	0.81001	D	1.015	0.25427	L	0.18	0.60361	T	-2.64	0.56630	D	0.73	0.73105	-0.9954	0.31191	T	0.098	0.36754	T	10	0.5119808	0.62149	D	0.022348	0.45230	T	0.265	0.57870	0.51	0.60693	0.804973989201	0.80314	0.6328111338703467	0.63215	1.54673122755	0.87836	0.68630027771	0.65173	T	0.137327	0.47020	T	-0.0692549	0.41445	T	-0.0451075	0.67357	D	0.402923571421131	0.29052	T	0.969203	0.88895	D	0.25309956	0.48330	0.17655613	0.40198	0.25309956	0.48330	0.17655613	0.40197	-7.879	0.60242	D	.	.	0.080	0.07745	B	.	.	4.013814	0.59233	24.1	0.99941237615185041	0.99797	0.98673	0.85416	D	AEFDBI	0.815195	0.73723	D	0.127809769655341	0.47764	2.997538	0.309598959315645	0.56104	3.773278	0.999999999999977	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.69	5.69	0.88346	6.106000	0.71175	2.168000	0.31032	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.684000	0.33659	0.0:1.0:0.0:0.0	19.863	0.96791	921	0.19240	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	38	chr13	20981585	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=767;ExcessHet=0;FS=2.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.381;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr13	20983400	20983400	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon5:c.G2306A:p.R769Q	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00980111736885	.	0.000199681	2.471e-05	9.612e-05	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs536277703	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	6.246e-05	4.757e-05	2.987e-05	2.236e-05	0	0	0	0.0002	5.396e-06	3.311e-05	0.0001	2.629e-05	2.626e-05	1.286e-05	4.034e-05	4.819e-05	8.14e-06	5.14e-06	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	2.941e-05	0	0	0.243	0.17526	T	0.141	0.33442	T	0.95	0.53885	P	0.67	0.53116	P	0.000003	0.62929	D	0.000000	0.999987	0.54805	D	1.295	0.32453	L	3.03	0.08898	T	-2.84	0.59873	D	0.844	0.83987	-1.1611	0.00730	T	0.037	0.15943	T	10	0.6589614	0.70040	D	0.009801	0.25563	T	0.126	0.34673	0.635	0.77142	0.510359658301	0.50677	0.8514338249601817	0.85105	1.67942265989	0.89953	0.570915818214	0.48808	T	0.329739	0.70001	T	-0.233897	0.16137	T	-0.371099	0.36760	T	0.866982400417328	0.51702	D	0.956304	0.83415	D	0.29237914	0.52213	0.2391394	0.49255	0.29237914	0.52213	0.2391394	0.49254	-4.017	0.24057	T	.	.	0.066	0.02313	B	.	.	3.952438	0.57911	23.9	0.99946650562759787	0.99913	0.97042	0.72354	D	AEFDGBI	0.491019	0.52825	N	0.490365084669181	0.66524	4.961534	0.528474313636484	0.69915	5.428818	0.999999997716846	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	5.009000	0.63753	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	18.664	0.91440	920	0.19381	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2667.33	33	chr13	20983400	.	C	T	2667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.38;DP=831;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.736;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	18	0	1	0
chr13	20989083	20989083	T	C	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon4:c.A697G:p.K233E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0113641087732	.	.	5.831e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs772031398	4.43e-05	4.446e-05	3.715e-05	5.153e-05	5.605e-05	3.55e-05	3.23e-05	4.462e-05	4.05e-05	0	2.327e-05	0	0	0	0	5.605e-05	1.674e-05	0	6.576e-05	6.569e-05	6.427e-05	6.733e-05	0.0001	3.519e-05	2.618e-05	6.809e-05	5.091e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.637	0.07037	T	0.483	0.36807	P	0.057	0.26280	B	0.000001	0.84330	D	0.000000	0.912276	0.36443	D	1.875	0.49914	L	1.56	0.29602	T	-1.2	0.30555	N	0.242	0.27316	-1.0603	0.11681	T	0.058	0.24354	T	10	0.13407364	0.25517	T	0.011364	0.28906	T	0.083	0.24192	0.305	0.27485	0.445544589891	0.44177	0.7096553514942248	0.70907	0.970015830112	0.73328	0.673049092293	0.63272	T	0.128491	0.45618	T	-0.269532	0.11809	T	-0.431949	0.29715	T	0.104232412612589	0.12816	T	0.535646	0.17968	T	0.31624892	0.54321	0.291646	0.55190	0.31624892	0.54321	0.291646	0.55189	-2.48	0.05646	T	.	.	0.374	0.58096	A	.	.	2.825782	0.37236	20.4	0.99605711606559288	0.74516	0.95525	0.65068	D	AEFDBI	0.270954	0.38691	N	-0.116800412336988	0.36660	2.122109	-0.0215215472801768	0.38744	2.287108	0.999453216426546	0.39788	0.706548	0.73137	0	0.546412	0.12157	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	4.05	0.46415	0.481000	0.21969	3.000000	0.35917	0.519000	0.23678	0.062000	0.21832	1.000000	0.68203	0.747000	0.35681	0.0:0.0:0.1433:0.8567	12.163	0.53418	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	732.33	37	chr13	20989083	.	T	C	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=793;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.28;SOR=1.09	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46,SKA3:NM_145061:exon9:c.1238_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.*413delinsCATQ*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1275.79	35	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	1275.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.6;DP=740;ExcessHet=0.119;FS=14.652;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.49;SOR=1.401	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,977	17	0	2	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.003788	0.02632	1315.33	33	chr13	21155744	.	C	A	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=899;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.49;SOR=0.732	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1329,0,1203	18	0	1	0
chr13	21155813	21155813	-	GG	splicing	SKA3	NM_145061:exon8:c.1120-2->CC	.	.	.	629	164	50	18	661	747	0.207729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0001	0.0001	0.0029	0.0001	9.502e-05	0.0017	0.0013	4.473e-05	3.209e-05	4.826e-05	2.856e-05	0.0011	0.0029	5.098e-05	6.97e-05	0.0002	0.0007	0.0008	0.0005	0.0010	0.0018	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0010	0.0012	0.0018	0.0021	0	0.0007	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	17188.5	38	chr13	21155813	.	T	TGG	17188.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=1307;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.31;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.113;SOR=0.746	GT:AD:DP:GQ:PL	0/0:5,0:44:22:813,902,1157	18	0	1	0
chr13	21158126	21158126	-	AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	splicing	SKA3	NM_145061:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT;NM_001166017:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT	.	.	.	441	1022	31	2	26	61	0.016835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0004	0	0.0002	0	0.0004	.	.	.	.	0.0001	0.0001	9.436e-05	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	0	2.253e-05	3.894e-05	0.0003	0.0011	0.0007	9.754e-05	0.0002	8.265e-05	0.0002	0.0004	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	9.645e-05	0	0.0004	0	0.0002	0.0008	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1009.29	37	chr13	21158126	.	C	CAAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	1009.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=848;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.792;SOR=0.507	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr13	23336348	23336348	C	T	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G7087A:p.A2363T,SACS:NM_014363:exon10:c.G7528A:p.A2510T	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	254834	not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia|not_provided	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.567	0.111030976423	0.0018	0.000199681	0.0012	0.0006	0.0005	0	0	0.0019	0	0.0007	0.0013842	214	154602	rs111920492	0.0021	0.0021	0.0021	0.0020	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0.0010	0	0.0001	0.0003	0.0025	0.0012	0.0008	0.0012	0.0012	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0.0143	0.0009	0.0003	0	9.42e-05	0	0.0021	0.0014	0.0004	0.022	0.48642	D	0.0	0.92824	D	0.985	0.61118	D	0.728	0.55195	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.355	0.33814	L	-3.31	0.93835	D	-0.36	0.13035	N	0.787	0.79503	0.537	0.91062	D	0.785	0.92701	D	10	0.04148993	0.02809	T	0.111031	0.78864	D	0.567	0.82346	.	.	0.930296074874	0.92958	0.7034014014451269	0.70281	.	.	0.666264653206	0.62305	T	0.233834	0.60072	T	-0.0224704	0.48500	T	0.194108	0.82803	D	0.0365577600896358	0.03077	T	0.959604	0.84807	D	0.1766302	0.38586	0.19416097	0.43024	0.1766302	0.38586	0.19416097	0.43023	-3.018	0.10376	T	0.3712496655883729	0.46673	0.551	0.66816	A	.;.	.;.	4.404765	0.68085	25.2	0.99896648373883778	0.96971	0.95234	0.63935	D	AEFBCI	0.822498	0.74281	D	0.57711789661237	0.71746	5.698299	0.636350729095018	0.77599	6.710254	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.565000	0.81337	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.877	0.96873	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2754.33	82	chr13	23336348	.	C	T	2754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.32;DP=1555;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.01;SOR=0.689	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr13	23338124	23338124	C	T	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G5311A:p.V1771M,SACS:NM_014363:exon10:c.G5752A:p.V1918M	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0829109975958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.39820	T	0.0	0.92824	D	0.838	0.46404	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	2.42	0.70002	M	-2.34	0.87989	D	-0.5	0.15782	N	0.809	0.90590	0.126	0.84637	D	0.562	0.84068	D	10	0.7742573	0.77330	D	0.082911	0.74003	D	0.574	0.82742	0.467	0.53891	0.803420170324	0.80158	0.6823076607190579	0.68169	.	.	0.657091259956	0.60993	T	0.327529	0.69804	T	0.37216	0.88201	D	0.296805	0.88051	D	0.916332125663757	0.57372	D	0.964704	0.86917	D	0.2101503	0.43303	0.21258768	0.45734	0.2101503	0.43303	0.21258768	0.45733	-6.904	0.53329	T	0.393106907722282	0.48601	0.649	0.70897	P	.;.	.;.	3.997654	0.58883	24.0	0.99913437101980751	0.98238	0.95187	0.63759	D	AEFDBCI	0.880140	0.80658	D	0.386028001090158	0.60663	4.257868	0.435662198964203	0.63802	4.621278	0.999999999999999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.568000	0.81546	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.948	0.97190	986	0.02773	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3218.33	58	chr13	23338124	.	C	T	3218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=1363;ExcessHet=0;FS=4.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.193;SOR=0.452	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,106,1320	18	0	1	0
chr13	23339410	23339410	T	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.A4025G:p.N1342S,SACS:NM_014363:exon10:c.A4466G:p.N1489S	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	1	1454	64	3	0	70	0.0235057	.	.	YES	208019	Spastic_paraplegia|not_specified|Charlevoix-Saguenay_spastic_ataxia|not_provided|Hereditary_spastic_paraplegia|Abnormal_brain_morphology	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	.	0.0065	0.00678914	0.0091	0.0009	0.0023	0	0.0023	0.0083	0.0088	0.0297	0.0084087	1300	154602	rs147099630	0.0079	0.0079	0.0069	0.0089	0.0291	0.0078	0.0077	0.0281	0.0277	0.0008	0.0028	0.0431	2.522e-05	0.0018	0.0141	0.0063	0.0095	0.0291	0.0059	0.0059	0.0059	0.0059	0.0263	0.0056	0.0055	0.0226	0.0212	0.0010	0	0.0031	0.0406	0	0.0017	0.0238	0.0075	0.0057	0.0263	0.212	0.19500	T	0.269	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.001825	0.37892	N	0.341308	0.98623	0.24636	N	-0.49	0.02651	N	-2.0	0.85393	D	-0.28	0.11547	N	0.483	0.68603	-0.8642	0.50959	T	0.234	0.60112	T	10	0.008807957	0.00200	T	.	.	.	0.134	0.36365	.	.	0.56265594507	0.55928	0.17659087741127028	0.17578	.	.	0.489309668541	0.37342	T	0.158768	0.50192	T	-0.499666	0.00574	T	-0.466827	0.25858	T	0.0105743857020173	0.00147	T	0.883612	0.60617	D	0.021812556	0.00805	0.022847008	0.00303	0.022901403	0.00986	0.022847008	0.00303	-4.564	0.31716	T	0.040593196363678564	0.00365	0.067	0.02518	B	.;.	.;.	1.396060	0.18093	13.54	0.81999204661806668	0.13967	0.74567	0.36481	D	AEFBHCI	0.113903	0.22456	N	-0.661578866532214	0.17123	0.8784784	-0.48624356155959	0.22532	1.224273	0.99982141832748	0.43622	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.96	2.19	0.26890	1.491000	0.35192	3.545000	0.39022	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1988:0.1271:0.6741	5.898	0.18192	986	0.02773	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.013595	0.000000	0.009511	0.014620	0.000000	0.025862	0.018293	0.015152	0.02632	2126.33	58	chr13	23339410	.	T	C	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=1327;ExcessHet=0;FS=6.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.958;SOR=0.717	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,106,1320	18	0	1	0
chr13	23353824	23353824	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon7:c.C1705T:p.H569Y,SACS:NM_014363:exon9:c.C2146T:p.H716Y	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	527761	SACS-related_disorder|not_provided|Spastic_paraplegia|not_specified|Charlevoix-Saguenay_spastic_ataxia|Hereditary_spastic_paraplegia	.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	0.0055157270693	0.0008	0.00119808	0.0010	0.0003	0.0003	0	0.0002	0.0009	0	0.0033	0.0010479	162	154602	rs146852400	0.0014	0.0014	0.0013	0.0015	0.0035	0.0014	0.0013	0.0032	0.0031	0.0002	0.0003	0.0011	0	0.0006	0	0.0014	0.0013	0.0035	0.0008	0.0008	0.0009	0.0008	0.0031	0.0007	0.0007	0.0019	0.0015	0.0003	0	0.0004	0.0014	0	0.0002	0	0.0012	0.0009	0.0031	0.45	0.08996	T	0.059	0.45961	T	0.059	0.23051	B	0.055	0.25995	B	0.006910	0.31720	N	0.371166	1	0.81001	D	1.5	0.37844	L	2.31	0.16794	T	-0.83	0.22727	N	0.296	0.33469	-0.9893	0.32778	T	0.086	0.33410	T	10	0.009966999	0.00223	T	0.005516	0.14197	T	0.046	0.12618	.	.	0.442977140156	0.43918	0.3838010027130866	0.38295	.	.	0.412141382694	0.26753	T	0.232857	0.59952	T	-0.53131	0.00377	T	-0.537756	0.18517	T	0.0240590368566059	0.01153	T	0.764624	0.39166	T	0.036361124	0.04459	0.04358227	0.05456	0.030536845	0.02733	0.040414654	0.04362	-4.69	0.33283	T	0.11934353545954915	0.11107	0.094	0.15385	B	.;.;.	.;.;.	2.727451	0.35692	19.96	0.97570322300002077	0.34675	0.80996	0.40496	D	AEFBI	0.160636	0.28660	N	0.115072306636361	0.47166	2.946123	0.208347210250142	0.50309	3.22441	0.999989430497283	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	6.08	5.24	0.72863	3.388000	0.52247	7.605000	0.61698	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0698:0.1281:0.6697:0.1324	6.651	0.22154	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1029.33	33	chr13	23353824	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.403;DP=704;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.971;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr13	23881762	23881762	G	A	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon3:c.C389T:p.P130L	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.0574843124782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.69	0.94526	H	0.86	0.46777	T	-8.78	0.97757	D	0.837	0.83269	0.012	0.82490	D	0.394	0.74749	T	10	0.88335025	0.87653	D	0.057484	0.66981	D	0.567	0.82346	0.594	0.72371	0.756661512562	0.75445	0.7439662694485222	0.74342	0.216076232132	0.24136	0.627389669418	0.56775	T	0.523751	0.83393	D	0.181964	0.72223	D	0.0236021	0.71863	D	0.997595369815826	0.91939	D	0.962304	0.85835	D	0.78006804	0.82658	0.68488437	0.81473	0.78006804	0.82659	0.68488437	0.81474	-13.62	0.91756	D	0.7630900395073281	0.84474	0.410	0.60122	A	.	.	5.006568	0.83108	28.0	0.99844100278573789	0.92403	0.98758	0.86475	D	AEFDBI	0.845247	0.76217	D	0.915176220350215	0.92482	11.44891	0.820157515577129	0.91157	10.74725	0.999999999754947	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	9.451000	0.96773	11.679000	0.94198	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	17.608	0.87947	539	0.73055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	615.33	34	chr13	23881762	.	G	A	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=677;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.56;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	18	0	1	0
chr13	24223693	24223693	C	T	exonic	SPATA13	.	nonsynonymous SNV	SPATA13:NM_001166271:exon2:c.C764T:p.T255M,SPATA13:NM_001286792:exon4:c.C950T:p.T317M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.426345411448	0.0002	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377364615	4.072e-05	3.899e-05	3.101e-05	5.07e-05	0.0004	3.182e-05	2.906e-05	6.155e-05	3.007e-05	0.0001	5.601e-05	0	0	0	0.0004	4.356e-05	3.44e-05	0	9.854e-05	9.85e-05	0.0001	8.068e-05	0.0001	6.005e-05	4.879e-05	5.842e-05	4.239e-05	0.0001	0	6.54e-05	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	.	.	.	.	.	.	0.343235	0.13930	U	0.532192	1	0.81001	D	.	.	.	-0.96	0.75553	T	-1.58	0.38151	N	0.136	0.14905	-0.6518	0.62636	T	0.291	0.66316	T	8	0.21636131	0.38216	T	0.426345	0.93894	D	0.134	0.36365	.	.	0.450867454232	0.44710	0.23915650155462584	0.23829	0.978654125277	0.73649	0.394106149673	0.24246	T	.	.	.	-0.271923	0.11543	T	-0.380066	0.35715	T	0.638796091079712	0.37986	D	0.824218	0.48580	T	.	.	.	.	.	.	.	.	-3.015	0.10343	T	.	.	0.138	0.30076	B	.;.	.;.	2.956746	0.39359	20.9	0.99732369772062612	0.82833	0.76667	0.37619	D	AEFDBCI	0.309275	0.41563	N	-0.190637974198	0.33523	1.902849	-0.218918959768178	0.30858	1.741117	0.999993438378002	0.74766	0.615465	0.37627	0	0.541556	0.11502	0	0.663124	0.60104	0	0.655142	0.61905	0	.	.	4.78	2.94	0.33188	3.816000	0.55363	1.650000	0.27840	0.545000	0.25583	0.998000	0.41325	0.921000	0.28324	0.044000	0.14658	0.0:0.7538:0.1578:0.0884	8.317	0.31269	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3829.33	311	chr13	24223693	.	C	T	3829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=1423;ExcessHet=0;FS=7.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.829;SOR=0.717	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	0	1	0
chr13	24435475	24435475	C	T	splicing	PARP4	NM_006437:exon31:c.3667-1G>A	.	.	.	439	1073	8	2	0	12	0.0055607	0.9999	0.77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0007	0	8.764e-05	0.0007	0	0.0004	0	0.0035	0.0005239	81	154602	rs201251739	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0030	0.0029	3.167e-05	2.672e-05	0.0002	0.0008	2.049e-05	0.0024	0.0003	0.0005	0.0033	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0001	0	0.0002	0	0.0034	0.0003	0.0005	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575275	0.31144	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.661043	0.00062	T	-0.726623	0.04482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.852816	0.79340	27.1	0.89243153055348434	0.18631	0.31660	0.24393	N	AEFBI	.	.	.	0.357936369023394	0.59158	4.093148	-0.0162358053320742	0.38980	2.304494	7.58805709476196E-4	0.07758	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.0971518	0.21753	2.19	2.19	0.26890	2.450000	0.44601	3.484000	0.38668	0.430000	0.20916	0.652000	0.28189	0.998000	0.33993	0.083000	0.17415	0.0:1.0:0.0:0.0	7.918	0.28995	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	545.33	36	chr13	24435475	.	C	T	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.15;DP=653;ExcessHet=0;FS=1.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=1.14;QD=12.39;ReadPosRankSum=-0.319;SOR=0.502	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,849	18	0	1	0
chr13	24709814	24709814	T	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon19:c.T2767C:p.Y923H,ATP12A:NM_001676:exon19:c.T2749C:p.Y917H	.	.	.	.	.	.	.	.	.	.	.	4081608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.798	0.202134380482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	8.961e-05	5.5e-07	1.5e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	0	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.029	0.54541	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.2	0.89116	M	-2.53	0.89430	D	-3.86	0.72471	D	0.916	0.91852	0.960	0.96546	D	0.868	0.95597	D	10	0.90547967	0.89912	D	0.202134	0.86803	D	0.798	0.93385	0.637	0.77361	0.970416959381	0.97010	0.6089432320226787	0.60826	0.938536902069	0.72127	0.676008105278	0.63697	T	0.876936	0.97389	D	0.340834	0.85893	D	0.251808	0.85707	D	0.992655754089355	0.83191	D	0.981169	0.93529	D	0.73228794	0.79853	0.65625703	0.79873	0.73228794	0.79854	0.65625703	0.79874	-8.614	0.65182	D	.	.	0.282	0.51489	B	.;.	.;.	4.068727	0.60437	24.2	0.99761222672156058	0.85091	0.97603	0.75838	D	AEFDBCI	0.900095	0.84522	D	0.839407713885512	0.88498	9.600673	0.733366893099561	0.84910	8.425885	0.999999999981971	0.74766	0.65861	0.49226	0	0.618376	0.53248	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	7.924000	0.86974	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.110000	0.18741	0.0:0.0:0.0:1.0	14.518	0.67415	975	0.05339	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	894.33	39	chr13	24709814	.	T	C	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.124;DP=788;ExcessHet=0;FS=1.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.579;SOR=0.874	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr13	24710559	24710559	C	T	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon20:c.C2881T:p.R961W,ATP12A:NM_001676:exon20:c.C2863T:p.R955W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.21981609936	0.0002	0.000798722	0.0004	0	0	0	0	1.498e-05	0	0.0028	0.0003363	52	154602	rs140886846	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	2.519e-05	0	0	1.978e-05	0.0004	0.0028	7.878e-05	7.873e-05	5.14e-05	0.0001	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.825	0.59331	P	0.000001	0.84330	D	0.000000	0.999997	0.58761	D	3.615	0.93875	H	-2.49	0.89145	D	-6.09	0.89947	D	0.947	0.95491	0.803	0.94450	D	0.836	0.94503	D	10	0.13576001	0.25833	T	0.219816	0.87726	D	0.801	0.93504	.	.	0.982419504982	0.98223	0.7812507531034472	0.78076	0.843759495885	0.68187	0.790790438652	0.80564	T	0.914023	0.98404	D	0.0932108	0.63548	D	0.356811	0.90581	D	0.367330778519394	0.27694	T	0.994501	0.98160	D	0.83023304	0.85918	0.8177751	0.89396	0.83023304	0.85920	0.8177751	0.89397	-11.612	0.82910	D	.	.	0.943	0.86205	P	.;.	.;.	4.046010	0.59940	24.2	0.99909289993697381	0.97949	0.86841	0.46211	D	AEFBI	0.672818	0.63909	D	0.504949667448783	0.67383	5.074185	0.412917733805581	0.62369	4.451144	0.00421936335094146	0.10461	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.49	3.7	0.41607	1.240000	0.32334	-0.265000	0.10395	0.599000	0.40250	0.941000	0.32681	0.000000	0.08366	0.985000	0.61073	0.4928:0.5072:0.0:0.0	11.715	0.50911	975	0.05339	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	34	chr13	24710559	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=690;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.21;SOR=0.461	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	18	0	1	0
chr13	24711329	24711329	G	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon22:c.G3029C:p.W1010S,ATP12A:NM_001676:exon22:c.G3011C:p.W1004S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.406617657899	.	0.000399361	0.0003	0	0	0	0	0	0	0.0016	0.0001294	20	154602	rs186599537	5.106e-05	5.13e-05	1.508e-05	8.752e-05	0.0008	4.161e-05	3.811e-05	0.0007	0.0006	0	2.297e-05	0	0	0	0	9.049e-07	5.012e-05	0.0008	4.596e-05	4.593e-05	2.57e-05	6.714e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.023	0.57104	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-4.48	0.97606	D	-10.26	0.98946	D	0.933	0.93959	1.096	0.99473	D	0.961	0.98756	D	10	0.8513335	0.84313	D	0.406618	0.93510	D	0.925	0.98154	.	.	0.996858443138	0.99682	0.918833274994641	0.91859	1.0458086974	0.75952	0.623627364635	0.56241	T	0.950841	0.99291	D	0.299582	0.82935	D	0.57452	0.96285	D	0.697972059249878	0.40622	D	0.889111	0.62070	D	0.98224086	0.99276	0.9686941	0.99407	0.98224086	0.99276	0.9686941	0.99408	-12.225	0.86569	D	.	.	0.723	0.74565	P	.;.	.;.	5.063203	0.84400	28.3	0.98975185382250774	0.49620	0.99412	0.95698	D	AEFBI	0.916485	0.88276	D	1.08589318300283	0.97864	16.91896	1.04174873882429	0.99283	21.66687	0.999999998094439	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.874000	0.98479	10.011000	0.83093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.060	0.89301	976	0.04745	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	36	chr13	24711329	.	G	C	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.684;DP=761;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.504;SOR=0.562	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr13	24793169	24793169	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon10:c.A1063G:p.S355G,RNF17:NM_031277:exon10:c.A1063G:p.S355G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00475573486087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.096	0.42614	T	0.0	0.02946	B	0.0	0.01387	B	0.587738	0.11080	N	0.820704	1	0.08975	N	0.55	0.14455	N	3.49	0.05071	T	-1.04	0.27259	N	0.06	0.03175	-1.0067	0.27943	T	0.021	0.08639	T	10	0.058121502	0.06784	T	0.004756	0.11847	T	0.028	0.06331	0.305	0.27485	0.043077524339	0.03247	0.109214135812641	0.10850	0.198902131425	0.22280	0.261753022671	0.05101	T	0.060749	0.31471	T	-0.348751	0.04806	T	-0.738733	0.03944	T	0.0759305506944656	0.09459	T	0.386661	0.09517	T	0.05385375	0.10251	0.03612034	0.02995	0.05385375	0.10250	0.03612034	0.02994	-5.013	0.36981	T	.	.	0.063	0.02257	B	.;.	.;.	0.378708	0.07505	4.152	0.96536557451111993	0.30172	0.05796	0.11732	N	AEFBI	0.057450	0.10701	N	-0.89981070051671	0.10846	0.5203884	-0.858590047835262	0.13081	0.6766429	4.1915574008284E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	2.91	0.32903	0.759000	0.26127	0.756000	0.21276	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.030000	0.13115	0.7612:0.0:0.2388:0.0	5.206	0.14614	927	0.17636	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	39	chr13	24793169	.	A	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.443;DP=855;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.064;SOR=0.89	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr13	24870680	24870680	C	T	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon32:c.C4376T:p.A1459V,RNF17:NM_031277:exon32:c.C4388T:p.A1463V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00660684815731	0.0005	0.000199681	0.0007	9.614e-05	0.0003	0	0	0.0004	0.0022	0.0027	0.0005951	92	154602	rs146604608	0.0008	0.0008	0.0007	0.0008	0.0028	0.0007	0.0007	0.0025	0.0024	0.0001	0	0	0	0.0001	0.0003	0.0007	0.0007	0.0028	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	9.626e-05	0	6.534e-05	0	0.0002	0.0005	0	0.0006	0.0005	0.0035	0.363	0.30515	T	0.139	0.33666	T	0.893	0.49136	P	0.511	0.47948	P	0.000846	0.41440	D	0.106561	0.987266	0.40562	D	1.475	0.37068	L	2.92	0.09915	T	-0.7	0.27052	N	0.321	0.36148	-1.0304	0.20325	T	0.024	0.10058	T	10	0.007950842	0.00181	T	0.006607	0.17444	T	0.030	0.07022	.	.	0.043077524339	0.03247	0.5140814748932145	0.51330	0.808300792543	0.66608	0.38685798645	0.23226	T	0.045132	0.27029	T	-0.533041	0.00369	T	-0.54369	0.17937	T	0.0163676558391729	0.00405	T	0.80282	0.44919	T	0.055439223	0.10775	0.071957536	0.15469	0.055439223	0.10774	0.071957536	0.15469	-3.247	0.13063	T	.	.	0.146	0.34049	B	.;.;.	.;.;.	3.530604	0.49532	22.8	0.99783628384528844	0.87043	0.20511	0.21068	N	AEFDI	0.040784	0.06114	N	-0.191752183969101	0.33477	1.899695	-0.0903251467420091	0.35788	2.074768	0.385524787909593	0.19999	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.79	4.84	0.62125	0.856000	0.27473	4.778000	0.44817	0.549000	0.26987	0.585000	0.27626	1.000000	0.68203	0.537000	0.29868	0.0:0.8712:0.0:0.1288	9.355	0.37322	894	0.26265	Tudor domain;Tudor domain;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1450.33	36	chr13	24870680	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.211;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.744;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	18	0	1	0
chr13	25096807	25096807	T	G	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.T609G:p.D203E	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00241669620859	.	.	9.884e-05	9.61e-05	8.637e-05	0	0	0.0001	0	6.056e-05	8.41e-05	13	154602	rs779683088	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.766e-05	0.0011	0.0008	2.987e-05	0.0002	0	0	1.872e-05	0.0019	0.0001	0.0001	4.637e-05	8.53e-05	9.185e-05	8.989e-05	8.05e-05	0.0001	4.95e-05	3.957e-05	5.841e-05	4.238e-05	0	0	6.531e-05	0	0	0	0.0068	0.0001	0.0009	0	0.004	0.65419	D	0.088	0.40586	T	0.91	0.50240	P	0.783	0.57419	P	0.000182	0.48115	U	0.000000	0.962667	0.38303	D	1.325	0.33218	L	2.34	0.16351	T	-2.93	0.61284	D	0.381	0.42247	-1.1137	0.02770	T	0.049	0.21026	T	10	0.21123943	0.37545	T	0.002417	0.04757	T	0.165	0.42395	0.493	0.58048	0.349647731962	0.34572	0.18151320974086962	0.18070	0.227216289415	0.25271	0.500553309917	0.38905	T	0.05823	0.30786	T	-0.20151	0.20586	T	-0.527232	0.19565	T	0.18815690279007	0.19736	T	0.910909	0.68443	D	0.5260519	0.68606	0.38841578	0.63686	0.5260519	0.68607	0.38841578	0.63686	-7.488	0.57526	T	.	.	0.267	0.50091	B	.	.	1.461453	0.18842	13.95	0.99000872863756118	0.50148	0.44487	0.27329	N	AEFGBCI	0.080606	0.16300	N	-0.697240329643403	0.16100	0.8173146	-0.851797080682896	0.13245	0.6860047	0.00242389478265349	0.09418	0.706298	0.61202	0	0.383324	0.06291	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	1.27	-2.55	0.05922	0.852000	0.27417	0.512000	0.19089	-2.394000	0.00296	1.000000	0.71638	0.999000	0.35428	0.800000	0.37734	0.0:0.3186:0.0:0.6814	6.901	0.23461	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2512.33	243	chr13	25096807	.	T	G	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=3394;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.47;MQRankSum=4.66;QD=10.13;ReadPosRankSum=0.183;SOR=0.681	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	18	0	1	0
chr13	25096847	25096847	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G649A:p.A217T	.	420	1061	37	3	1	44	0.0198614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0017	0.00459265	0.0036	0.0002	0.0010	0.0002	0	0.0018	0.0088	0.0176	0.0031953	494	154602	rs143751914	0.0024	0.0024	0.0019	0.0028	0.0174	0.0023	0.0023	0.0167	0.0164	0.0002	0.0012	0.0002	0.0001	0.0001	0.0101	0.0015	0.0028	0.0174	0.0016	0.0017	0.0016	0.0017	0.0147	0.0015	0.0014	0.0120	0.0110	0.0004	0	0.0010	0	0	0	0.0034	0.0020	0.0038	0.0147	0.428	0.09600	T	0.234	0.24840	T	0.001	0.07471	B	0.003	0.08700	B	0.000270	0.46590	U	0.000000	0.995071	0.42533	D	0.125	0.08623	N	2.41	0.15492	T	0.08	0.06026	N	0.148	0.15046	-0.9779	0.35481	T	0.016	0.06425	T	10	0.0029929578	0.00049	T	.	.	.	0.126	0.34673	.	.	0.137902524267	0.13322	0.2867122076612506	0.28584	0.107254379592	0.12108	0.343643277884	0.16981	T	0.021667	0.16835	T	-0.197106	0.21222	T	-0.520906	0.20202	T	0.0126773923273149	0.00213	T	0.670533	0.27914	T	0.02957364	0.02474	0.06000728	0.11357	0.02957364	0.02473	0.06000728	0.11356	1.297	0.00100	T	.	.	0.083	0.09045	B	.	.	0.910299	0.12847	9.360	0.59432665177813537	0.06223	0.52129	0.29058	D	AEFBCI	0.076515	0.15394	N	-1.32822826808265	0.03356	0.1497702	-1.31897576965958	0.04185	0.1968691	0.00118211392037886	0.08314	0.706298	0.61202	0	0.383324	0.06291	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.993	-1.82	0.07433	3.292000	0.51478	4.649000	0.44188	-2.509000	0.00261	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.1895:0.0:0.568:0.2425	3.296	0.06558	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011123	0.005102	0.004076	0.000000	0.000000	0.034483	0.030488	0.011364	0.02632	1529.33	227	chr13	25096847	.	G	A	1529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=3133;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.63;MQRankSum=3.35;QD=8.94;ReadPosRankSum=0.188;SOR=0.717	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:222,0:222:99:.:.:0,120,1800:.	13	0	6	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	19368.9	262	chr13	25097016	.	AGACG	A	19368.9	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.12;DP=4461;ExcessHet=25.4433;FS=7.09;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.31;MQRankSum=-9.731;QD=4.48;ReadPosRankSum=-0.48;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:222,0:287:99:0|1:25097005_A_G:2061,2729,12051:25097005	15	0	4	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,65:287:99:0|1:25097005_A_G:2061,0,9126:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,65:287:99:0|1:25097005_A_G:2061,0,9126:25097005	7	0	12	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15963.1	259	chr13	25097030	.	C	*	15963.1	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.76;DP=4427;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.21;MQRankSum=-10.43;QD=3.73;ReadPosRankSum=-0.576;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:215,0:281:99:0|1:25097005_A_G:2102,2749,11707:25097005	15	0	4	0
chr13	25097840	25097840	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G1642A:p.A548T	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00311820690249	0.0002	0.000399361	0.0004	0	0.0006	0	0	0.0001	0	0.0021	0.0003622	56	154602	rs144664628	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0014	0	0.0002	0.0002	0	0	0.0024	5.666e-05	0.0002	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0009	0	0	9.422e-05	0	8.821e-05	0.0005	0.0015	0.034	0.44029	D	0.022	0.57587	D	0.946	0.53363	P	0.741	0.55725	P	0.000270	0.46590	U	0.000000	0.999956	0.52396	D	2.73	0.79844	M	0.68	0.51952	T	-3.46	0.67705	D	0.377	0.41853	-0.6925	0.60792	T	0.214	0.57547	T	10	0.030691624	0.01198	T	0.003118	0.06786	T	0.195	0.47612	.	.	0.849862203633	0.84841	0.3689139773879063	0.36805	0.475443501588	0.46719	0.57855963707	0.49882	T	0.160812	0.50481	T	-0.115078	0.33930	T	-0.403078	0.33025	T	0.234807255499918	0.22179	T	0.922208	0.71716	D	0.53119737	0.68899	0.343417	0.60053	0.53119737	0.68900	0.343417	0.60053	-5.721	0.43880	T	.	.	0.096	0.15430	B	.	.	1.924661	0.24443	16.40	0.99442095276376274	0.64820	0.87212	0.46684	D	AEFDBI	0.280518	0.39432	N	0.195321122889574	0.50973	3.282513	-0.0171879914428716	0.38939	2.301353	0.904557029819873	0.26181	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.963000	0.75848	7.652000	0.63756	0.356000	0.20028	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	7.549	0.26951	929	0.16858	Polyadenylate-binding protein/Hyperplastic disc protein|Polyadenylate-binding protein/Hyperplastic disc protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001082	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1618.33	205	chr13	25097840	.	G	A	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=2265;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.23;SOR=0.815	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,118,1800	18	0	1	0
chr13	25170010	25170010	G	A	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.C1610T:p.S537L,AMER2:NM_199138:exon3:c.C1253T:p.S418L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0054	0.00479233	0.0017	0.0172	0.0014	0	0	0.0001	0	6.115e-05	0.0015459	239	154602	rs150740704	0.0005	0.0005	0.0006	0.0005	0.0168	0.0005	0.0005	0.0157	0.0152	0.0168	0.0009	0.0008	0	0	0.0012	7.555e-05	0.0012	6.958e-05	0.0050	0.0050	0.0052	0.0048	0.0171	0.0047	0.0046	0.0161	0.0157	0.0171	0	0.0020	0.0012	0	0	0.0068	2.94e-05	0.0033	0	0.379	0.12428	T	0.344	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.892734	0.08676	U	0.945716	1	0.08975	N	0.49	0.13296	N	2.16	0.19166	T	-1.21	0.30762	N	0.086	0.11912	-0.9970	0.30755	T	0.018	0.07329	T	10	0.0028262734	0.00045	T	.	.	.	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09321118848076103	0.09253	.	.	0.240298211575	0.02817	T	0.008986	0.08212	T	-0.697697	0.00038	T	-0.76069	0.03087	T	0.00296394968205108	0.00031	T	0.40416	0.10358	T	0.024210764	0.01230	0.04920989	0.07471	0.024210764	0.01230	0.04920989	0.07471	-4.013	0.25789	T	.	.	0.081	0.10159	B	.;.	.;.	1.693393	0.21574	15.26	0.89736869443362988	0.19056	0.20115	0.20920	N	AEFDBI	0.154849	0.27994	N	-1.07542531643717	0.07099	0.3287482	-1.05846492447565	0.08531	0.4199177	0.998485712780146	0.37052	0.764865	0.99124	0	0.59043	0.45803	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.71	2.97	0.33479	1.683000	0.37256	1.826000	0.29078	-0.188000	0.09543	0.008000	0.17931	0.009000	0.19889	0.023000	0.12082	0.1736:0.0:0.8264:0.0	9.466	0.37978	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.030303	0.004076	0.008772	0.000000	0.000000	0.006098	0.000000	0.02632	1488.33	35	chr13	25170010	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=768;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.95;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1058	18	0	1	0
chr13	25170698	25170698	-	CTCGGGGGGTGCCCGGGGCTT	exonic	AMER2	.	nonframeshift insertion	AMER2:NM_152704:exon1:c.921_922insAAGCCCCGGGCACCCCCCGAG:p.E307_P308insKPRAPPE	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0039	0.0260	0	0.0174	0	0.0004	0	0.0038	0.0002689	7	26028	rs531573239	0.0012	0.0012	0.0011	0.0013	0.0184	0.0012	0.0012	0.0172	0.0167	0.0165	0.0008	0.0007	0.0184	0	0.0013	0.0001	0.0025	0.0046	0.0062	0.0062	0.0062	0.0061	0.0188	0.0058	0.0057	0.0177	0.0172	0.0188	0	0.0023	0.0014	0.0149	0	0.0069	8.831e-05	0.0047	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	795.29	35	chr13	25170698	.	G	GCTCGGGGGGTGCCCGGGGCTT	795.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.227;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1058	18	0	1	0
chr13	25253869	25253869	G	T	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385232:exon10:c.C1115A:p.A372D,MTMR6:NM_001385233:exon10:c.C1112A:p.A371D,MTMR6:NM_001385234:exon10:c.C1106A:p.A369D,MTMR6:NM_001385237:exon10:c.C1106A:p.A369D,MTMR6:NM_001385238:exon10:c.C833A:p.A278D,MTMR6:NM_001385231:exon11:c.C1187A:p.A396D,MTMR6:NM_001385236:exon11:c.C1241A:p.A414D,MTMR6:NM_004685:exon11:c.C1241A:p.A414D,MTMR6:NM_001385230:exon12:c.C1355A:p.A452D	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	.	0.0006	0.0233626	0.0097	0.0005	0.0045	0.0837	0.0015	0.0016	0.0044	0.0164	0.0090555	1400	154602	rs79053319	0.0042	0.0042	0.0039	0.0046	0.0812	0.0041	0.0041	0.0789	0.0779	0.0001	0.0032	0.0057	0.0812	0.0017	0.0029	0.0007	0.0055	0.0170	0.0049	0.0050	0.0040	0.0060	0.0929	0.0046	0.0045	0.0861	0.0834	0.0003	0.0175	0.0019	0.0055	0.0929	0.0012	0	0.0009	0.0033	0.0228	0.063	0.36709	T	0.039	0.51112	D	0.834	0.46206	P	0.176	0.35644	B	0.000004	0.62929	N	0.139939	1	0.81001	D	3.57	0.93460	H	-2.82	0.91192	D	-4.34	0.76822	D	0.542	0.56919	-0.5180	0.67989	T	0.114	0.40513	T	10	0.011748701	0.00255	T	.	.	.	0.690	0.88726	.	.	0.974489703242	0.97421	0.8685922447097401	0.86824	0.19274520419	0.21601	0.67719066143	0.63866	T	0.680092	0.90597	D	-0.153391	0.27781	T	0.079846	0.75568	D	0.0946518568234797	0.11758	T	0.882712	0.60367	D	0.8910354	0.90596	0.8159179	0.89278	0.8910354	0.90597	0.8159179	0.89278	-10.566	0.77225	D	.	.	0.424	0.60884	A	.	.	3.276774	0.44877	22.0	0.9976261574648998	0.85172	0.92333	0.55470	D	ALL	0.647969	0.62296	D	0.424481151106037	0.62770	4.498695	0.43719403578283	0.63899	4.633097	0.999999999634843	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.86	4.1	0.47196	5.718000	0.68103	3.830000	0.39991	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7441:0.2559	15.306	0.73701	819	0.41190	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.000000	0.021341	0.022727	0.02632	601.33	33	chr13	25253869	.	G	T	601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=718;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.06;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	18	0	1	0
chr13	25257198	25257198	T	C	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385233:exon8:c.A964G:p.M322V,MTMR6:NM_001385234:exon8:c.A958G:p.M320V,MTMR6:NM_001385237:exon8:c.A958G:p.M320V,MTMR6:NM_001385238:exon8:c.A685G:p.M229V,MTMR6:NM_001385231:exon9:c.A1039G:p.M347V,MTMR6:NM_001385235:exon9:c.A1093G:p.M365V,MTMR6:NM_001385236:exon9:c.A1093G:p.M365V,MTMR6:NM_004685:exon9:c.A1093G:p.M365V,MTMR6:NM_001385230:exon10:c.A1207G:p.M403V	.	431	1090	1	0	0	1	0.000458505	0.2467	0.388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	.	0.0002	0.00259585	0.0013	0.0004	0	0.0173	0	0	0.0012	0.0007	0.001119	173	154602	rs75005059	0.0005	0.0005	0.0005	0.0005	0.0144	0.0005	0.0005	0.0134	0.0130	0.0001	2.243e-05	0	0.0144	0	0	4.499e-06	0.0013	0.0011	0.0007	0.0007	0.0006	0.0008	0.0154	0.0006	0.0005	0.0127	0.0117	0.0003	0	6.537e-05	0	0.0154	0	0	5.88e-05	0	0.0014	0.035	0.43708	D	0.214	0.26386	T	0.94	0.52768	P	0.706	0.54345	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-2.59	0.89822	D	-2.97	0.61865	D	0.619	0.63459	0.359	0.88482	D	0.628	0.86956	D	10	0.01262942	0.00271	T	.	.	.	0.666	0.87576	.	.	0.913267921431	0.91239	0.6286672643479237	0.62799	0.504501105802	0.48728	0.602451682091	0.53251	T	0.51677	0.83024	D	-0.134019	0.30846	T	0.0470392	0.73389	D	0.0602313799553728	0.07206	T	0.967203	0.88094	D	0.8078908	0.84415	0.59647226	0.76569	0.8078908	0.84416	0.59647226	0.76570	-7.466	0.57371	T	.	.	0.208	0.43489	B	.	.	4.121999	0.61622	24.4	0.9877719739399593	0.46065	0.98000	0.78766	D	AEFBI	0.665255	0.63414	D	0.461232186652282	0.64842	4.748233	0.467593775014284	0.65855	4.876705	0.999949707609077	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.49	4.29	0.50359	5.006000	0.63731	2.917000	0.35542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0709:0.0:0.9291	11.627	0.50410	793	0.45818	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	34	chr13	25257198	.	T	C	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=724;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.551;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	18	0	1	0
chr13	25469045	25469045	G	T	exonic	ATP8A2	.	nonsynonymous SNV	ATP8A2:NM_001313741:exon2:c.G25T:p.D9Y,ATP8A2:NM_016529:exon2:c.G145T:p.D49Y	.	.	.	.	.	.	.	.	.	.	YES	215464	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.208	0.532334350513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs864309608	3.284e-05	3.283e-05	4.492e-05	2.063e-05	0.0057	2.543e-05	2.249e-05	0.0042	0.0037	0	0	0	0	0	0.0057	1.079e-05	4.969e-05	0	1.97e-05	1.968e-05	3.855e-05	0	1.471e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000004	0.62929	D	0.058843	0.999997	0.58761	D	.	.	.	0.26	0.66294	T	-3.69	0.70432	D	0.597	0.61596	-0.6348	0.63367	T	0.302	0.67279	T	10	0.66796076	0.70540	D	0.532334	0.95607	D	0.471	0.76487	0.418	0.45873	0.721108871625	0.71864	0.6747912373145017	0.67417	1.14845940085	0.79135	0.665206670761	0.62154	T	0.077567	0.35685	T	0.197387	0.73648	D	0.0457569	0.73304	D	0.99306982755661	0.83726	D	0.819518	0.47762	T	0.77322954	0.82241	0.6640125	0.80304	0.77322954	0.82243	0.6640125	0.80305	-5.542	0.42259	T	.	.	0.157	0.34689	B	.;.	.;.	5.181891	0.86881	29.1	0.99458483425960176	0.65684	0.90353	0.51461	D	AEFDBHCI	0.846518	0.76339	D	0.297750018053299	0.56033	3.76768	0.335601339413242	0.57646	3.930981	0.999999999999998	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.16	4.16	0.48138	7.189000	0.77281	8.322000	0.76964	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.178	0.72611	427	0.81056	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004032	0.005051	0.001359	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	1604.33	33	chr13	25469045	.	G	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.053;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.832;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1063	18	0	1	0
chr13	26046880	26046880	C	T	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.G521A:p.R174Q	.	.	.	.	.	.	.	.	.	.	.	2332980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.224	0.0371156623683	0.0007	0.000199681	0.0004	0.0002	0.0002	0	0	0.0007	0	6.171e-05	0.0003687	57	154602	rs139872427	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	0.0002	3.833e-05	0.0003	9.366e-05	0	0.0005	0.0009	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0.0004	0	0.0001	0.0006	0	9.414e-05	0	0.0004	0	0.0002	0.087	0.32453	T	0.254	0.23433	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	1.01	0.41058	T	-0.87	0.23590	N	0.598	0.61680	-0.9107	0.46768	T	0.196	0.55085	T	10	0.24909046	0.42216	T	0.037116	0.57417	D	0.224	0.52174	.	.	0.223847106136	0.22009	0.5875195097688001	0.58681	0.96515572476	0.73150	0.705305397511	0.67912	T	0.287412	0.66021	T	-0.269297	0.11836	T	-0.277431	0.47066	T	0.0820682719349861	0.10251	T	0.909209	0.67884	D	0.1771007	0.38658	0.14424752	0.34253	0.1771007	0.38658	0.14424752	0.34252	-4.086	0.25083	T	.	.	0.318	0.54390	B	.	.	4.867615	0.79709	27.2	0.99930106304522148	0.99334	0.99028	0.90173	D	AEFDBI	0.853628	0.77060	D	0.362264463042069	0.59389	4.118024	0.287404798282104	0.54804	3.644311	0.999999999999999	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.96	4.96	0.65153	7.876000	0.85623	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.752000	0.35857	0.0:1.0:0.0:0.0	18.248	0.89930	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1876.33	41	chr13	26046880	.	C	T	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.548;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr13	26046925	26046925	C	T	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.G476A:p.R159H	.	343	1178	1	0	0	1	0.000424268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0494468544135	7.7e-05	0.000599042	0.0004	0	0.0003	0	0	1.506e-05	0	0.0025	0.000304	47	154602	rs377584498	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0.0002	2.238e-05	0	2.52e-05	0	0	3.418e-05	0.0002	0.0026	0.0002	0.0002	7.718e-05	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0.0001	0	0	0	0	0	0	2.941e-05	0	0.0046	0.105	0.29823	T	0.304	0.20100	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.96	0.42888	T	0.31	0.04022	N	0.606	0.62357	-0.8911	0.48837	T	0.201	0.55766	T	10	0.021252632	0.00505	T	0.049447	0.63815	D	0.251	0.56024	.	.	0.392547445146	0.38869	0.5440808058963603	0.54334	1.00474942747	0.74539	0.567740082741	0.48358	T	0.118788	0.43985	T	-0.152966	0.27848	T	0.00164017	0.70442	D	0.126624008674223	0.15066	T	0.911209	0.68535	D	0.1484667	0.33894	0.09765517	0.23253	0.1484667	0.33894	0.09765517	0.23252	-5.139	0.38315	T	.	.	0.174	0.38062	B	.	.	5.150057	0.86250	28.8	0.99941211518111328	0.99797	0.99027	0.90159	D	AEFDBI	0.888852	0.82238	D	0.556580459673413	0.70482	5.508214	0.542971592980416	0.70909	5.575194	0.999999999999997	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.83	4.83	0.61880	7.876000	0.85623	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:1.0:0.0:0.0	17.963	0.89012	842	0.36989	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1092.33	41	chr13	26046925	.	C	T	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=751;ExcessHet=0;FS=6.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.366;SOR=1.364	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	38	chr13	26676631	.	T	C	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.25;DP=1453;ExcessHet=0;FS=100.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.52;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:146,24:170:51:.:.:0,51,5405:.	18	0	1	0
chr13	26682776	26682776	C	G	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon9:c.C1144G:p.P382A,WASF3:NM_006646:exon9:c.C1153G:p.P385A	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0532232908522	.	0.000798722	0.0005	0	0.0003	0	0	9.048e-05	0.0011	0.0034	0.0004657	72	154602	rs201909672	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0.0002	7.653e-05	0	1.94e-05	0.0005	9.173e-05	0.0004	0.0028	0.0001	0.0001	0.0001	0.0002	0.0015	9.739e-05	8.254e-05	0.0007	0.0005	0	0	0.0005	0	0	0	0.0034	8.821e-05	0.0005	0.0015	0.264	0.19782	T	0.039	0.51112	D	0.025	0.19245	B	0.021	0.19346	B	0.009520	0.30328	N	0.403613	0.999999	0.58761	D	1.34	0.33385	L	0.87	0.46412	T	-2.5	0.54382	D	0.215	0.24010	-0.9746	0.36213	T	0.140	0.45922	T	10	0.00894323	0.00202	T	0.053223	0.65384	D	0.132	0.35948	.	.	0.082315109003	0.07666	0.27573348454296404	0.27486	0.328761373452	0.34991	0.413464099169	0.26936	T	0.15068	0.49027	T	-0.446226	0.01188	T	-0.418364	0.31263	T	0.048918938045099	0.05310	T	0.70353	0.31362	T	0.05151784	0.09473	0.058051627	0.10660	0.05151784	0.09472	0.058051627	0.10660	-5.305	0.39993	T	.	.	0.057	0.00593	B	.;.	.;.	1.578661	0.20203	14.64	0.86246679600398513	0.16409	0.97400	0.74509	D	AEFDBI	0.222489	0.34698	N	-0.213418467186607	0.32582	1.839072	-0.163455687470524	0.32893	1.875994	0.99999999999973	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	3.525000	0.53257	3.678000	0.39458	0.599000	0.40250	1.000000	0.71638	0.957000	0.29195	0.001000	0.02609	0.0:1.0:0.0:0.0	17.346	0.87198	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1005.33	35	chr13	26682776	.	C	G	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=758;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.225;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1123	18	0	1	0
chr13	27440277	27440277	C	T	exonic	MTIF3	.	nonsynonymous SNV	MTIF3:NM_001166261:exon3:c.G172A:p.A58T,MTIF3:NM_001166262:exon3:c.G172A:p.A58T,MTIF3:NM_152912:exon3:c.G172A:p.A58T,MTIF3:NM_001166263:exon4:c.G172A:p.A58T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0113101220979	.	.	2.471e-05	0	0	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs766360130	1.231e-05	1.231e-05	8.167e-06	1.65e-05	9.275e-05	7.7e-06	6.35e-06	4.579e-05	3.272e-05	0	4.472e-05	0	0	0	0	6.295e-06	1.656e-05	9.275e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.55e-05	2.19e-06	8.2e-07	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.494	0.07895	T	0.702	0.05685	T	0.01	0.15535	B	0.001	0.04355	B	0.471793	0.04930	N	1.299620	1	0.08975	N	0	0.06538	N	1.48	0.31731	T	-0.55	0.16799	N	0.044	0.01740	-1.0253	0.21985	T	0.032	0.13767	T	10	0.033316135	0.01505	T	0.01131	0.28804	T	0.056	0.15993	0.242	0.17524	0.232513804876	0.22884	0.1777148967862344	0.17690	0.156553927278	0.17672	0.226882249117	0.01745	T	0.006175	0.05608	T	-0.554279	0.00275	T	-0.797291	0.01971	T	0.0113433681993137	0.00168	T	0.351165	0.07832	T	0.068563096	0.14946	0.052163694	0.08539	0.068563096	0.14946	0.052163694	0.08539	-3.152	0.11903	T	.	.	0.070	0.04277	B	.;.;.	.;.;.	1.088932	0.14723	11.27	0.49037206854203341	0.04142	0.26461	0.22999	N	AEFBI	0.169599	0.29644	N	-1.27145214442883	0.04024	0.1808323	-1.17148363148112	0.06390	0.3074487	0.999915085627874	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	3.18	0.35615	0.913000	0.28233	-0.016000	0.12991	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6488:0.1338:0.2173	6.216	0.19870	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1568.33	34	chr13	27440277	.	C	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=765;ExcessHet=0;FS=7.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.147;SOR=1.283	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	18	0	1	0
chr13	27440324	27440324	G	A	exonic	MTIF3	.	nonsynonymous SNV	MTIF3:NM_001166261:exon3:c.C125T:p.S42F,MTIF3:NM_001166262:exon3:c.C125T:p.S42F,MTIF3:NM_152912:exon3:c.C125T:p.S42F,MTIF3:NM_001166263:exon4:c.C125T:p.S42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0153063112214	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs768292785	1.094e-05	1.094e-05	0	2.2e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.045	0.40832	D	0.118	0.36233	T	0.744	0.43069	P	0.31	0.41396	B	0.416907	0.04624	N	1.328460	1	0.08975	N	2.075	0.57047	M	1.34	0.34841	T	-1.83	0.42957	N	0.254	0.31027	-1.0026	0.29168	T	0.095	0.36003	T	10	0.12001258	0.22723	T	0.015306	0.35967	T	0.042	0.11227	0.249	0.18602	0.526892676112	0.52336	0.314905481265568	0.31403	0.494575833261	0.48015	0.275910198689	0.06928	T	0.035069	0.23573	T	-0.296915	0.08954	T	-0.461621	0.26422	T	0.141182392835617	0.16377	T	0.627137	0.24302	T	0.03272103	0.03351	0.061491728	0.11881	0.03272103	0.03351	0.061491728	0.11881	-4.128	0.25701	T	.	.	0.118	0.25166	B	.;.;.	.;.;.	1.512965	0.19433	14.26	0.55399648032757731	0.05334	0.12383	0.17235	N	AEFBI	0.141197	0.26331	N	-0.329856999218913	0.28019	1.542006	-0.444134175930706	0.23715	1.294773	0.999814587454066	0.43459	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	2.7	0.31007	1.054000	0.30064	1.840000	0.29181	0.676000	0.76740	0.001000	0.13787	0.007000	0.19602	0.016000	0.10718	0.0761:0.2339:0.4616:0.2284	4.445	0.11014	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1861.33	34	chr13	27440324	.	G	A	1861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=761;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.694;SOR=1.028	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	18	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	242.33	23	chr13	28322931	.	T	C	242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.778;DP=594;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.487;SOR=0.412	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	18	0	1	0
chr13	29480261	29480261	A	C	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_015233:exon3:c.A233C:p.E78A,MTUS2:NM_001366651:exon9:c.A3098C:p.E1033A,MTUS2:NM_001384606:exon9:c.A3296C:p.E1099A,MTUS2:NM_001033602:exon10:c.A3296C:p.E1099A,MTUS2:NM_001366650:exon10:c.A3293C:p.E1098A,MTUS2:NM_001384605:exon10:c.A3296C:p.E1099A	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00893139552029	.	.	5.299e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs774928642	1.427e-06	1.368e-06	1.408e-06	1.446e-06	1.26e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.723e-05	1.26e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.319	0.13610	T	0.674	0.10103	T	0.0	0.02946	B	0.001	0.04355	B	0.047340	0.23355	N	0.504604	0.999998	0.58761	D	.	.	.	2.16	0.19166	T	-2.76	0.58569	D	0.13	0.12484	-1.0371	0.18202	T	0.024	0.10239	T	9	0.039180964	0.02390	T	0.008931	0.23535	T	0.058	0.16647	.	.	0.0401082797425	0.02173	.	.	.	.	0.311494827271	0.12133	T	.	.	.	-0.42871	0.01509	T	-0.657954	0.08405	T	0.0840658098459244	0.10498	T	0.787021	0.49191	T	.	.	.	.	.	.	.	.	-6.75	0.52186	T	.	.	0.061	0.01161	B	.;.	.;.	1.720693	0.21908	15.40	0.97535246895348426	0.34480	0.11664	0.16782	N	AEFDBHCI	0.061174	0.11677	N	-0.526074299390009	0.21239	1.125747	-0.354277375010702	0.26377	1.456543	0.999998268384583	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.44	4.24	0.49486	0.520000	0.22586	4.166000	0.42242	0.756000	0.94297	0.078000	0.22289	1.000000	0.68203	0.992000	0.67800	0.5062:0.3654:0.0:0.1283	6.869	0.23289	950	0.11238	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2049.81	72	chr13	29480261	.	A	C	2049.81	.	AC=2;AF=0.053;AN=38;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.47;SOR=1.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	1	0	0
chr13	30621160	30621160	T	C	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_005800:exon2:c.T20C:p.I7T	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00342172486774	0.0005	0.000399361	0.0009	0	0.0005	0	0.0002	0.0012	0.0011	0.0015	0.0008861	137	154602	rs151003670	0.0007	0.0007	0.0007	0.0007	0.0033	0.0007	0.0006	0.0022	0.0018	0.0001	0.0007	7.674e-05	2.557e-05	0.0001	0.0033	0.0007	0.0009	0.0017	0.0007	0.0007	0.0007	0.0006	0.0017	0.0006	0.0005	0.0008	0.0006	0.0001	0.0154	0.0009	0	0	0	0.0034	0.0009	0.0009	0.0017	0.639	0.05017	T	1.0	0.01155	T	0.065	0.23521	B	0.041	0.23986	B	0.097320	0.20033	N	0.505427	0.937766	0.26881	N	1.485	0.37223	L	3.01	0.09075	T	-1.35	0.33598	N	0.222	0.24883	-0.9629	0.38625	T	0.019	0.07939	T	10	0.0077244937	0.00175	T	0.003422	0.07694	T	0.027	0.05988	.	.	0.162503812791	0.15892	0.1761533991884399	0.17534	0.0627489378481	0.06987	0.404530018568	0.25698	T	0.001518	0.00960	T	-0.596466	0.00153	T	-0.648573	0.09054	T	0.0266047711146782	0.01488	T	0.675032	0.28342	T	0.07578468	0.17098	0.04698636	0.06669	0.07578468	0.17098	0.04698636	0.06668	-2.321	0.04672	T	.	.	0.059	0.00793	B	.	.	1.610770	0.20585	14.82	0.68135107543760021	0.08566	0.53287	0.29335	D	AEFDBI	0.069979	0.13873	N	-0.439678328221628	0.24091	1.298392	-0.310991899233798	0.27742	1.541607	0.999696352217743	0.41870	0.75658	0.98901	0	0.627608	0.54475	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.39	1.48	0.21900	0.400000	0.20657	1.634000	0.27755	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.3292:0.1608:0.5101	4.666	0.12049	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1259.33	33	chr13	30621160	.	T	C	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.276;DP=742;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.876;SOR=0.408	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1404	18	0	1	0
chr13	32239330	32239330	T	C	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon45:c.T6497C:p.I2166T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000668280777473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342961743	5.507e-06	6.841e-06	6.857e-06	4.147e-06	5.437e-06	2.37e-06	1.71e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.437e-06	3.329e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.022530	0.26616	N	0.449156	0.927388	0.27146	N	-0.255	0.03828	N	.	.	.	.	.	.	0.249	0.28146	-1.0312	0.20066	T	0.029	0.12629	T	10	0.14222395	0.27016	T	6.68E-4	0.00383	T	0.081	0.23632	0.503	0.59615	0.043077524339	0.03247	0.2751742152913401	0.27430	0.507590868077	0.48939	0.310523062944	0.11985	T	0.002769	0.12791	T	-0.104001	0.35761	T	-0.387166	0.34883	T	0.631979703903198	0.37700	D	0.822518	0.48291	T	0.10295247	0.24330	0.10520957	0.25285	0.10295247	0.24329	0.10520957	0.25284	-2.717	0.07447	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	3.578259	0.50435	22.9	0.28657165546664315	0.01482	0.91698	0.54074	D	AEFBHCI	0.231039	0.35433	N	-0.286305171439985	0.29676	1.647843	-0.0348506846983977	0.38152	2.243751	0.999972982200238	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.93	5.93	0.95888	2.110000	0.41497	4.251000	0.42758	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	16.394	0.83400	946	0.12043	Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1634.33	33	chr13	32239330	.	T	C	1634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=740;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.825;SOR=0.786	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1247	18	0	1	0
chr13	32254323	32254323	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon51:c.A7345G:p.T2449A	.	0	1472	50	0	0	50	0.0167001	.	.	.	725466	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0031	0.00898562	0.0065	0.0005	0.0016	0.0041	0.0039	0.0044	0.0022	0.0245	0.0058214	900	154602	rs192351218	0.0039	0.0039	0.0033	0.0046	0.0213	0.0039	0.0038	0.0204	0.0201	0.0006	0.0023	0.0033	0.0038	0.0036	0.0147	0.0027	0.0048	0.0213	0.0037	0.0037	0.0034	0.0039	0.0236	0.0034	0.0033	0.0201	0.0188	0.0008	0	0.0043	0.0037	0.0029	0.0035	0.0272	0.0039	0.0038	0.0236	.	.	.	0.952	0.02632	T	0.001	0.07471	B	0.003	0.08700	B	0.001155	0.40056	N	0.296096	0.916143	0.36544	D	1.525	0.38595	L	.	.	.	.	.	.	0.104	0.08786	-1.0644	0.10689	T	0.036	0.15553	T	10	0.0036722124	0.00067	T	.	.	.	0.047	0.12962	.	.	0.043077524339	0.03247	0.26827228298660577	0.26740	0.390152499004	0.40238	0.468544095755	0.34480	T	0.021424	0.16683	T	-0.582555	0.00186	T	-0.592656	0.13437	T	0.00881356298500261	0.00109	T	0.772923	0.40417	T	0.043323237	0.06732	0.032588337	0.02018	0.043323237	0.06731	0.032588337	0.02018	-3.869	0.21839	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	2.167731	0.27620	17.52	0.93253645255033513	0.22944	0.80571	0.40173	D	AEFGBHCI	0.237725	0.35996	N	-0.396740501119558	0.25585	1.38994	-0.222223952144809	0.30741	1.733514	0.999999917014364	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.72	3.21	0.35933	2.421000	0.44343	0.884000	0.22419	0.756000	0.94297	1.000000	0.71638	0.011000	0.20116	0.988000	0.63387	0.7049:0.0:0.1436:0.1515	5.747	0.17396	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.012228	0.014620	0.050000	0.008621	0.024390	0.003788	0.02632	1396.33	34	chr13	32254323	.	A	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=767;ExcessHet=0;FS=0.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.499;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr13	32262378	32262378	C	T	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon53:c.C7682T:p.S2561L	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00510265927836	8.2e-05	0.000199681	9.942e-05	0	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs199608184	5.886e-05	5.883e-05	6.13e-05	5.641e-05	0.0007	4.879e-05	4.499e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0007	5.67e-05	0.0001	2.319e-05	5.909e-05	5.906e-05	5.139e-05	6.715e-05	0.0002	3.075e-05	2.209e-05	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	5.88e-05	0.0005	0	.	.	.	0.059	0.46406	T	0.017	0.17573	B	0.006	0.12133	B	0.045547	0.23526	N	0.516563	0.999995	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.061	0.03392	-1.0291	0.20746	T	0.040	0.17277	T	10	0.024527937	0.00678	T	0.005103	0.12939	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.18930863430365236	0.18848	0.353417528021	0.37145	0.203776150942	0.00575	T	0.031346	0.21997	T	-0.477866	0.00761	T	-0.654898	0.08614	T	0.0694843979604167	0.08578	T	0.779122	0.41282	T	0.031082077	0.02884	0.050846245	0.08064	0.031082077	0.02884	0.050846245	0.08063	-3.216	0.12677	T	.	.	0.059	0.00806	B	.;.;.;.;.	.;.;.;.;.	1.681738	0.21430	15.20	0.97482706016679188	0.34198	0.09916	0.15561	N	AEFDBCI	0.072654	0.14508	N	-0.92770069289973	0.10198	0.4861916	-0.900780431513582	0.12075	0.6190712	0.999969015585365	0.48965	0.730579	0.87903	0	0.588015	0.36545	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	6.03	1.83	0.24279	1.154000	0.31299	2.266000	0.31796	-0.193000	0.09282	0.004000	0.16614	0.024000	0.20971	0.338000	0.25386	0.0:0.6368:0.1343:0.2289	6.048	0.18995	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1269.33	35	chr13	32262378	.	C	T	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=745;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.372;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr13	32332271	32332271	G	T	splicing	BRCA2	NM_000059:exon10:c.794-1G>T	.	.	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	1.0000	0.862	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158365	0.70049	D	-0.0102956	0.69666	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.153784	0.86327	28.9	0.99108041089315846	0.52648	0.96497	0.69434	D	AEFBI	.	.	.	0.962394594267438	0.94464	12.77881	0.771903503048116	0.87780	9.342336	0.999999672958438	0.74766	0.106106	0.02776	0	0.104858	0.03167	0	0.121303	0.03266	0	0.109871	0.03346	0	0.971184	0.73442	5.54	5.54	0.82907	4.009000	0.56822	11.546000	0.93156	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:0.0:1.0:0.0	14.974	0.70910	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	38	chr13	32332271	.	G	T	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.109;DP=839;ExcessHet=0;FS=2.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.59;SOR=0.888	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1286	18	0	1	0
chr13	32338400	32338400	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A4045G:p.I1349V	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	536116	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Breast-ovarian_cancer,_familial,_susceptibility_to,_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0768269955196	.	.	8.33e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs780544697	2.071e-06	2.052e-06	1.372e-06	2.779e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.026e-07	0	1.213e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.09776	T	0.982	0.02411	T	.	.	.	.	.	.	0.439464	0.12645	N	0.726429	1	0.08975	N	.	.	.	5.89	0.00629	T	-0.48	0.15379	N	0.393	0.46274	-0.9340	0.43545	T	0.002	0.00676	T	10	0.09799382	0.17686	T	0.076827	0.72626	D	0.266	0.57999	0.332	0.31843	0.580672568948	0.57738	0.05314122391390812	0.05256	0.0201121265363	0.01973	0.256766498089	0.04514	T	.	.	.	-0.171388	0.25025	T	-0.483963	0.24026	T	0.0265884014678503	0.01487	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.11461	B	.;.	.;.	-0.411713	0.02170	0.212	0.37857877597224626	0.02519	0.04034	0.09473	N	AEFDBI	0.031477	0.03376	N	-1.16421456180004	0.05550	0.2532972	-1.19266075468866	0.06032	0.2891294	0.999074294873228	0.38370	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.74	-1.97	0.07091	-0.181000	0.09734	-0.402000	0.09404	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.774000	0.36673	0.3453:0.0:0.6547:0.0	10.703	0.45136	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2059.33	66	chr13	32338400	.	A	G	2059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.562;DP=1484;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.556;SOR=0.422	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr13	32338610	32338610	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A4255G:p.K1419E	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.172484599793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.25	0.23707	T	.	.	.	.	.	.	0.014313	0.28571	N	0.340982	1	0.08975	N	.	.	.	5.69	0.00751	T	-2.79	0.59059	D	0.373	0.42443	-0.8668	0.50768	T	0.004	0.01365	T	10	0.38951686	0.54788	T	0.172485	0.84945	D	0.165	0.42395	0.179	0.08626	0.867765765986	0.86648	0.1534376509391446	0.15265	0.052375716267	0.05764	0.342312037945	0.16784	T	.	.	.	0.00752453	0.52687	T	-0.226968	0.52065	T	0.880416810512543	0.53043	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15698	B	.;.	.;.	2.675227	0.34885	19.75	0.99507031884728203	0.68381	0.81513	0.40901	D	AEFDBI	0.192395	0.31955	N	0.173428535240871	0.49927	3.187762	0.13341157582614	0.46268	2.875626	0.999983938169715	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	4.78	0.60666	3.714000	0.54618	3.855000	0.40108	0.733000	0.85838	0.884000	0.31069	0.995000	0.32472	0.430000	0.27449	0.7385:0.1857:0.0758:0.0	7.508	0.26727	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	860.33	80	chr13	32338610	.	A	G	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.904;DP=1871;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.53;SOR=0.565	GT:AD:DP:GQ:PL	0/1:61,32:93:99:874,0,1674	18	0	1	0
chr13	32339733	32339733	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A5378G:p.N1793S	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	131604	Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0177747255317	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs80358759	4.105e-06	4.104e-06	2.723e-06	5.502e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	2.521e-05	0	0	1.799e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.923	0.02845	T	.	.	.	.	.	.	0.771463	0.06600	N	1.105620	1	0.08975	N	.	.	.	5.79	0.00674	T	0.57	0.02638	N	0.088	0.09490	-0.9068	0.47238	T	0.002	0.00615	T	10	0.047222763	0.04012	T	0.017775	0.39611	T	0.029	0.06676	0.42	0.46200	0.731923157262	0.72953	0.06261663205500768	0.06201	0.018699304688	0.01823	0.232337206602	0.02146	T	.	.	.	-0.423513	0.01625	T	-0.664596	0.07959	T	0.0371277929641667	0.03179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.01179	B	.;.	.;.	-0.721854	0.01270	0.067	0.18274567340301837	0.00568	0.03912	0.09295	N	AEFBI	0.062723	0.12076	N	-1.87880626217709	0.00379	0.0163076	-1.87731099646759	0.00542	0.02405362	0.806217441524251	0.24274	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.32	-1.24	0.08948	-0.423000	0.07102	-0.775000	0.07479	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3288:0.2556:0.2402:0.1755	0.861	0.01118	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2785.33	112	chr13	32339733	.	A	G	2785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.019;DP=2191;ExcessHet=0;FS=3.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.548;SOR=0.504	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr13	32340215	32340215	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A5860G:p.T1954A	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	615057	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|not_provided	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.153	0.111310135282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.063	0.45110	T	.	.	.	.	.	.	0.076900	0.21136	N	0.477190	0.922053	0.27269	N	.	.	.	5.69	0.00751	T	-3.71	0.70674	D	0.216	0.26957	-0.9876	0.33200	T	0.004	0.01261	T	10	0.18304375	0.33613	T	0.11131	0.78903	D	0.153	0.40148	0.223	0.14665	0.883233477708	0.88208	0.1504847417902119	0.14970	0.0224550323184	0.02262	0.286478340626	0.08412	T	.	.	.	-0.0858047	0.38768	T	-0.361029	0.37933	T	0.284867823123932	0.24376	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06942	B	.;.	.;.	1.226581	0.16211	12.39	0.94347844297993744	0.24694	0.69254	0.34115	D	AEFBI	0.084547	0.17135	N	-0.219272530139544	0.32343	1.823023	-0.174044731980714	0.32495	1.849248	0.937575035999066	0.27304	0.615465	0.37627	0	0.633656	0.55848	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	5.72	3.32	0.37134	0.928000	0.28431	0.460000	0.18609	0.756000	0.94297	0.013000	0.18845	0.001000	0.17328	0.320000	0.24970	0.7162:0.0:0.2838:0.0	7.952	0.29180	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2441.33	112	chr13	32340215	.	A	G	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=2178;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.646;SOR=0.4	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr13	32443611	32443611	G	A	exonic	N4BP2L2	.	nonsynonymous SNV	N4BP2L2:NM_001278432:exon7:c.C881T:p.T294I,N4BP2L2:NM_001320836:exon7:c.C2213T:p.T738I,N4BP2L2:NM_033111:exon7:c.C926T:p.T309I	.	433	1078	11	0	0	11	0.00507614	.	.	.	2342458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00353907260379	0.0004	0.000399361	0.0005	0.0002	0.0012	0	0	0.0006	0	0.0001	0.0004075	63	154602	rs147501500	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0066	0.0059	0.0006	0.0007	0.0003	0	0	0.0085	0.0003	0.0010	8.156e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0005	0.0006	0	0	0.0068	0.0004	0.0005	0	0.453	0.08917	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.035847	0.01809	N	2.099920	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.04	0.01999	-1.0013	0.29545	T	0.030	0.13023	T	9	0.010247409	0.00229	T	0.003539	0.08062	T	0.035	0.08770	.	.	0.183819452728	0.17975	0.01878042727278461	0.01832	0.0367272736908	0.03888	0.284106731415	0.08071	T	0.007495	0.06902	T	-0.648825	0.00074	T	-0.804469	0.01793	T	0.00870696973812581	0.00107	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-3.1	0.11296	T	.	.	0.086	0.13362	B	.;.;.	.;.;.	-0.522266	0.01796	0.139	0.029024223679168716	0.00000	0.03664	0.08924	N	AEFGBCI	0.037159	0.05067	N	-1.79744645951562	0.00551	0.0237378	-1.83496541352349	0.00654	0.02906554	0.999999977980224	0.74766	0.615465	0.37627	0	0.655437	0.61614	1	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.66	-8.19	0.00922	-0.811000	0.04607	-0.812000	0.07330	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2273:0.1216:0.5409:0.1102	6.511	0.21421	822	0.40702	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010574	0.000000	0.010870	0.046784	0.000000	0.017241	0.003049	0.000000	0.02632	1651.33	44	chr13	32443611	.	G	A	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.547;DP=834;ExcessHet=0;FS=3.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.978;SOR=0.77	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr13	32773316	32773316	A	G	exonic	PDS5B	.	nonsynonymous SNV	PDS5B:NM_015032:exon34:c.A4300G:p.T1434A	.	.	.	.	.	.	.	.	.	.	.	3372061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00130641864642	.	.	8.437e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs762936755	1.645e-05	1.642e-05	1.636e-05	1.653e-05	5.048e-05	1.113e-05	9.35e-06	8.36e-06	3.32e-06	0	0	3.845e-05	5.048e-05	0	0	9.002e-06	0.0002	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	1.47e-05	0	0	0.647	0.04897	T	0.818	0.03852	T	0.0	0.02946	B	0.0	0.01387	B	0.131129	0.18633	N	0.550392	0.999504	0.21084	N	0	0.06538	N	.	.	.	0.07	0.06138	N	0.244	0.27554	-1.0017	0.29430	T	0.034	0.14726	T	9	0.049138665	0.04460	T	0.001306	0.01809	T	0.016	0.02506	0.258	0.20002	0.043077524339	0.03247	0.08882947942212223	0.08815	0.0832408400961	0.09385	0.325409382582	0.14240	T	0.058737	0.30925	T	-0.273034	0.11422	T	-0.629971	0.10417	T	0.0285929907113314	0.01775	T	0.534247	0.17838	T	0.017709188	0.00296	0.018568441	0.00059	0.017709188	0.00295	0.018568441	0.00059	-3.662	0.18759	T	.	.	0.056	0.00470	B	.	.	1.620492	0.20700	14.87	0.84498781240265675	0.15327	0.61596	0.31531	D	AEFBI	0.065908	0.12879	N	-0.897596326477495	0.10899	0.5231693	-0.736613391248472	0.16052	0.8473344	0.665460401019671	0.22317	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.72	-1.01	0.09650	0.256000	0.18120	0.765000	0.21347	-0.054000	0.16847	0.992000	0.37556	0.541000	0.25415	0.907000	0.44265	0.4767:0.1522:0.3711:0.0	5.319	0.15177	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	566.33	34	chr13	32773316	.	A	G	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=678;ExcessHet=0;FS=6.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.812;SOR=0.23	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1108	18	0	1	0
chr13	33060962	33060962	G	A	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon4:c.G1883A:p.R628H	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2043101	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00846765851059	7.7e-05	.	0.0001	9.623e-05	0.0003	0.0003	0.0003	7.517e-05	0	6.208e-05	0.0001035	16	154602	rs137884931	9.184e-05	9.235e-05	9.675e-05	8.687e-05	0.0002	7.906e-05	7.379e-05	7.291e-05	6.639e-05	2.991e-05	0.0002	3.838e-05	7.568e-05	0.0003	0	8.56e-05	9.96e-05	4.646e-05	7.228e-05	7.223e-05	8.993e-05	5.38e-05	0.0004	3.971e-05	3.127e-05	6.823e-05	2.855e-05	4.826e-05	0	6.543e-05	0	0.0004	9.423e-05	0	7.348e-05	0	0	0.109	0.29288	T	0.081	0.41742	T	0.154	0.28120	B	0.082	0.29098	B	0.000174	0.48594	N	0.219510	0.875862	0.35653	D	1.64	0.41913	L	1.5	0.31205	T	-2.2	0.49519	N	0.172	0.18376	-1.0531	0.13547	T	0.063	0.26065	T	10	0.07481286	0.11483	T	0.008468	0.22407	T	0.038	0.09825	.	.	0.480497669815	0.47680	0.42772334531587763	0.42689	0.163869458312	0.18484	0.22369658947	0.01534	T	0.165725	0.51168	T	-0.430209	0.01478	T	-0.555418	0.16810	T	0.0392564711088705	0.03555	T	0.813719	0.46699	T	0.25549683	0.48584	0.1420926	0.33816	0.25549683	0.48583	0.1420926	0.33815	-7.717	0.59126	D	0.2925714968114953	0.38929	0.075	0.05360	B	.	.	1.995301	0.25349	16.73	0.98875615396935268	0.47719	0.35054	0.25212	N	AEFDBI	0.182602	0.30993	N	-0.55227023721642	0.20412	1.075873	-0.556624146569605	0.20629	1.11236	0.999096833019681	0.38425	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.57	2.89	0.32713	2.680000	0.46583	0.688000	0.20738	0.672000	0.70159	0.374000	0.25957	0.007000	0.19602	0.114000	0.18915	0.2196:0.0:0.7804:0.0	10.040	0.41328	546	0.72524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2312.33	154	chr13	33060962	.	G	A	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=2020;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.462;SOR=0.6	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr13	36125992	36125992	G	C	exonic	DCLK1	.	nonsynonymous SNV	DCLK1:NM_001330071:exon2:c.C146G:p.T49R,DCLK1:NM_001330072:exon2:c.C146G:p.T49R,DCLK1:NM_004734:exon2:c.C146G:p.T49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.00873092984407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.50676	D	0.383	0.32144	T	0.468	0.36503	P	0.332	0.42135	B	0.000000	0.84330	D	0.052072	0.999913	0.51042	D	1.24	0.30952	L	-0.22	0.66652	T	-0.01	0.22727	N	0.447	0.54322	-0.6098	0.64412	T	0.249	0.61855	T	10	0.27389085	0.44940	T	0.008731	0.23050	T	0.321	0.64318	0.265	0.21103	0.732480699055	0.73009	0.586443289654458	0.58574	1.37082442145	0.84528	0.838552355766	0.87874	D	0.108436	0.42147	T	0.105665	0.64899	D	-0.0859965	0.64462	T	0.839181542396545	0.49261	D	0.912309	0.68816	D	0.62152445	0.73845	0.46187484	0.68753	0.62152445	0.73846	0.46187484	0.68753	-9.074	0.68172	D	.	.	0.607	0.69803	P	.;.;.	.;.;.	5.078242	0.84734	28.4	0.99082669837769555	0.52002	0.99110	0.91373	D	AEFBI	0.940753	0.94313	D	0.420772180649397	0.62566	4.474508	0.569579321855903	0.72768	5.86245	1.0	0.98316	0.713056	0.82018	0	0.573888	0.26702	0	0.608524	0.38960	0	0.586402	0.36253	0	.	.	5.67	5.67	0.87673	9.775000	0.98175	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.780	0.96409	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1824.33	48	chr13	36125992	.	G	C	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=841;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.619;SOR=0.494	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr13	37009283	37009283	G	C	exonic	EXOSC8	.	nonsynonymous SNV	EXOSC8:NM_181503:exon11:c.G815C:p.S272T	Pontocerebellar hypoplasia, type 1C, Autosomal recessive	440	1067	13	2	0	17	0.0079033	.	.	YES	167468	not_specified|not_provided|Pontocerebellar_hypoplasia,_type_1C	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081,Orphanet:2254	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.681	0.156111261184	0.0040	0.00219649	0.0040	0.0013	0.0020	0	0.0018	0.0059	0.0037	0.0031	0.003868	598	154602	rs36027220	0.0058	0.0058	0.0057	0.0058	0.0068	0.0057	0.0056	0.0067	0.0066	0.0009	0.0019	0.0008	2.528e-05	0.0031	0.0063	0.0068	0.0048	0.0024	0.0039	0.0039	0.0045	0.0034	0.0072	0.0037	0.0036	0.0067	0.0065	0.0011	0	0.0016	0.0009	0	0.0013	0.0068	0.0072	0.0024	0.0033	0.346	0.91255	T	0.514	0.92824	T	0.094	0.25382	B	0.011	0.15521	B	0.000000	0.84330	D	0.035092	1	0.81001	D	1.98	0.53716	M	0.94	0.43672	T	-0.49	0.25551	N	0.567	0.59053	-1.0172	0.24625	T	0.087	0.33857	T	10	0.005367756	0.00118	T	0.156111	0.83693	D	0.681	0.88300	.	.	0.536942225882	0.53344	0.22700345347248063	0.22615	0.148798595494	0.16780	0.54484796524	0.45130	T	0.044274	0.26764	T	-0.359845	0.04138	T	-0.279281	0.46878	T	0.113110247990743	0.13743	T	0.720328	0.33319	T	0.21581115	0.44023	0.30121014	0.56154	0.23845856	0.46724	0.29111928	0.55135	-3.871	0.21869	T	.	.	0.08	0.16626	B	.;.	.;.	3.093933	0.41671	21.4	0.89077671991549434	0.18492	0.98363	0.82018	D	AEFGBCI	0.905304	0.85667	D	0.296394383639791	0.55967	3.760755	0.446472023965022	0.64489	4.705468	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.85	5.85	0.93663	9.016000	0.93163	11.878000	0.98757	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.170	0.98157	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.002717	0.002924	0.000000	0.043103	0.006098	0.003788	0.02632	801.33	33	chr13	37009283	.	G	C	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=686;ExcessHet=0;FS=2.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.278;SOR=1.104	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	18	0	1	0
chr13	37582422	37582422	C	T	exonic	POSTN	.	nonsynonymous SNV	POSTN:NM_001135934:exon10:c.G1336A:p.G446R,POSTN:NM_001135935:exon10:c.G1336A:p.G446R,POSTN:NM_001135936:exon10:c.G1336A:p.G446R,POSTN:NM_001286665:exon10:c.G1336A:p.G446R,POSTN:NM_001286666:exon10:c.G1336A:p.G446R,POSTN:NM_001286667:exon10:c.G1336A:p.G446R,POSTN:NM_001330517:exon10:c.G1336A:p.G446R,POSTN:NM_006475:exon10:c.G1336A:p.G446R	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.149581397676	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs774501312	1.232e-05	1.231e-05	1.225e-05	1.238e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	3.828e-05	0	0	0	1.529e-05	0	0	1.973e-05	1.971e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-2.74	0.90735	D	-4.93	0.81755	D	0.882	0.88027	0.821	0.94666	D	0.872	0.95745	D	10	0.8810259	0.87413	D	0.149581	0.83137	D	0.822	0.94315	0.685	0.82271	0.965211914288	0.96484	0.8951606464156627	0.89487	0.496083062219	0.48129	0.777646541595	0.78573	T	0.640	0.96719	D	0.467756	0.93246	D	0.434123	0.93161	D	0.997036099433899	0.90620	D	0.967303	0.90829	D	0.7929876	0.83461	0.753552	0.85434	0.7929876	0.83462	0.753552	0.85435	-9.972	0.73966	D	.	.	0.358	0.64192	A	.;.;.;.;.;.	.;.;.;.;.;.	5.241246	0.87993	29.4	0.99942715412565564	0.99848	0.98215	0.80611	D	AEFBI	0.960035	0.98066	D	0.93066801957506	0.93180	11.87168	0.910610596790493	0.96019	14.21321	0.999999999861656	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	7.508000	0.80566	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.659	0.99629	479	0.77495	.;FAS1 domain|FAS1 domain|FAS1 domain;.;FAS1 domain|FAS1 domain|FAS1 domain;.;FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1647.33	34	chr13	37582422	.	C	T	1647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=755;ExcessHet=0;FS=8.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.997;SOR=1.106	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	18	0	1	0
chr13	38689807	38689807	C	A	exonic	FREM2	.	stopgain	FREM2:NM_207361:exon1:c.C2463A:p.Y821X	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000775	0.41888	D	0.249082	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.75742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.099867	0.96141	35	0.99651990985997241	0.77380	0.70237	0.34508	D	AEFBCI	0.321798	0.42448	N	0.484280776219817	0.66171	4.915861	0.306440176747559	0.55919	3.754643	0.999877768147035	0.44625	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	2.77	0.31614	0.343000	0.19686	0.400000	0.17989	0.594000	0.32500	0.641000	0.28093	0.032000	0.21310	0.967000	0.53440	0.0:0.7767:0.0:0.2233	11.610	0.50311	938	0.14419	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	305.33	65	chr13	38689807	.	C	A	305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.325;DP=1316;ExcessHet=0;FS=211.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.305;SOR=7.903	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr13	38691375	38691375	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.G4031A:p.R1344H	Fraser syndrome, Autosomal recessive	2	1496	24	0	0	24	0.00795756	.	.	YES	334576	Fraser_syndrome_2|Isolated_cryptophthalmia|not_specified|Congenital_diaphragmatic_hernia|FREM2-related_disorder|Congenital_anomaly_of_kidney_and_urinary_tract|not_provided	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|.|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.00828160330622	0.0019	0.00199681	0.0037	0.0008	0.0010	0.0001	0.0056	0.0036	0.0055	0.0090	0.003454	534	154602	rs143044921	0.0030	0.0030	0.0028	0.0033	0.0093	0.0030	0.0029	0.0088	0.0086	0.0005	0.0009	0.0015	2.519e-05	0.0063	0.0049	0.0027	0.0032	0.0093	0.0025	0.0025	0.0023	0.0028	0.0050	0.0023	0.0022	0.0034	0.0033	0.0003	0	0.0014	0.0020	0.0002	0.0055	0.0068	0.0038	0.0009	0.0050	0.191	0.21066	T	0.194	0.28120	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.57	0.54347	T	-2.35	0.51968	N	0.649	0.66016	-0.9987	0.30283	T	0.122	0.42357	T	10	0.00933212	0.00211	T	0.008282	0.21928	T	0.218	0.51265	.	.	0.574670332726	0.57135	0.5975888075421643	0.59689	0.194995630506	0.21838	0.400006681681	0.25069	T	.	.	.	-0.223529	0.17514	T	-0.0864691	0.64427	T	0.0267143234646331	0.01504	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23360	B	.	.	4.336853	0.66495	25.0	0.99908027591708826	0.97801	0.98242	0.80858	D	AEFBI	0.877977	0.80295	D	0.325135943766178	0.57442	3.911485	0.481565071732744	0.66771	4.995424	0.999999999820025	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	8.113000	0.89423	9.943000	0.82671	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1269:0.8731:0.0	17.017	0.86294	938	0.14419	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	2004.33	41	chr13	38691375	.	G	A	2004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=1106;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.13;SOR=0.692	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr13	38784578	38784578	C	T	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon6:c.C5789T:p.P1930L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	334594	Fraser_syndrome_2|Isolated_cryptophthalmia|Inborn_genetic_diseases	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0152728026126	7.7e-05	0.000199681	0.0004	0	0	0	0.0002	0.0007	0	0.0002	0.0003299	51	154602	rs114524483	0.0001	0.0001	0.0001	9.763e-05	0.0001	9.266e-05	8.731e-05	0.0001	9.602e-05	5.974e-05	0	0	0	0.0001	0	0.0001	0.0001	5.797e-05	9.192e-05	9.186e-05	0.0001	6.714e-05	0.0002	5.524e-05	4.362e-05	0.0001	8.878e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	1.0	0.00964	T	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.052003	1	0.81001	D	.	.	.	2.12	0.19726	T	-7.5	0.95045	D	0.497	0.53006	-1.0299	0.20487	T	0.118	0.41560	T	10	0.1971857	0.35641	T	0.015273	0.35904	T	0.208	0.49714	.	.	0.584243892073	0.58097	0.6395784543132023	0.63892	0.228251388131	0.25376	0.589262485504	0.51390	T	.	.	.	-0.216596	0.18460	T	-0.216837	0.53041	T	0.313885761497279	0.25573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39782	B	.	.	4.445807	0.69071	25.3	0.95753434248808311	0.27731	0.98982	0.89513	D	AEFDBIJ	0.633950	0.61400	D	0.516478407268328	0.68063	5.166003	0.5142858792791	0.68950	5.291383	0.99999911834633	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.02	5.17	0.70848	5.022000	0.63850	3.630000	0.39313	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.895000	0.43227	0.0:0.8683:0.1317:0.0	16.971	0.86170	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1102.33	41	chr13	38784578	.	C	T	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=736;ExcessHet=0;FS=2.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.01;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:91,43:141:99:183,0,1583	6	0	12	1
chr13	38880461	38880461	G	T	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon24:c.G9184T:p.A3062S	Fraser syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	336394	not_provided|Fraser_syndrome_2|FREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.065	.	7.7e-05	0.00219649	0.0018	0.0003	0.0002	0	0.0002	4.496e-05	0.0033	0.0128	0.0015588	241	154602	rs140456319	0.0008	0.0008	0.0005	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	5.974e-05	0	0	0	3.744e-05	0.0003	4.496e-05	0.0009	0.0119	0.0004	0.0004	0.0002	0.0005	0.0115	0.0003	0.0003	0.0090	0.0082	0	0	0	0	0	0	0	1.471e-05	0	0.0115	0.003	0.68238	D	0.055	0.46862	T	.	.	.	.	.	.	0.000102	0.50451	D	0.174967	0.925975	0.36821	D	.	.	.	2.07	0.20387	T	-1.52	0.36980	N	0.183	0.19861	-1.0423	0.16621	T	0.069	0.28247	T	10	0.0035012364	0.00062	T	.	.	.	0.065	0.18881	.	.	0.277730125212	0.27379	0.39627853768029075	0.39542	0.113228077382	0.12776	0.267387449741	0.05803	T	.	.	.	-0.455217	0.01052	T	-0.416276	0.31502	T	0.0568825764688426	0.06669	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13550	B	.	.	1.406927	0.18215	13.61	0.99161152948250986	0.54099	0.84311	0.43393	D	AEFBHI	0.358037	0.44885	N	-0.30993620807796	0.28770	1.589653	-0.302232783971219	0.28026	1.559482	0.974616401599033	0.29558	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.663205	0.64265	0	.	.	6.04	5.2	0.71720	3.486000	0.52979	5.036000	0.46868	0.676000	0.76740	0.506000	0.27002	0.999000	0.35428	0.380000	0.26335	0.1392:0.0:0.8608:0.0	11.139	0.47616	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2712.33	33	chr13	38880461	.	G	T	2712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=812;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.936;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	18	0	1	0
chr13	39012966	39012966	G	C	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.C2220G:p.F740L,PROSER1:NM_025138:exon11:c.C2286G:p.F762L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0704177540381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.212	0.26549	T	0.99	0.63424	D	0.979	0.74454	D	.	.	.	.	0.998007	0.44406	D	2.39	0.68882	M	0.33	0.58323	T	-2.56	0.55339	D	0.859	0.85554	-0.7479	0.58045	T	0.242	0.61083	T	8	0.6544486	0.69791	D	0.070418	0.70998	D	0.252	0.56159	0.417	0.45709	0.138757226776	0.13463	0.684473569019447	0.68386	0.434137609734	0.43540	0.780321121216	0.78976	T	0.271855	0.64421	T	0.147043	0.68991	D	-0.0265598	0.68597	D	0.933846235275269	0.60089	D	0.884312	0.60710	D	0.3626597	0.58038	0.43858123	0.67239	0.3626597	0.58038	0.43858123	0.67239	-1.91	0.02942	T	.	.	0.891	0.86156	P	.;.	.;.	3.394254	0.47007	22.4	0.99821612345838906	0.90414	0.84664	0.43749	D	AEFBHCI	0.247663	0.36820	N	0.224904634447208	0.52407	3.415187	0.187318254846139	0.49151	3.121827	0.990827735804803	0.32281	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.21	3.44	0.38486	1.336000	0.33455	0.933000	0.22794	0.590000	0.31872	1.000000	0.71638	0.999000	0.35428	0.829000	0.39076	0.2135:0.0:0.7865:0.0	11.230	0.48135	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1921.33	33	chr13	39012966	.	G	C	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=755;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.322;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr13	39047751	39047751	T	A	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.T668A:p.V223E,NHLRC3:NM_001012754:exon7:c.T869A:p.V290E	.	436	1084	2	0	0	2	0.000921659	.	.	.	2261934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.143305367025	7.7e-05	0.000199681	9.891e-05	9.63e-05	0	0	0	0.0001	0	6.062e-05	9.06e-05	14	154602	rs145374636	9.714e-05	9.713e-05	8.712e-05	0.0001	0.0007	8.377e-05	7.915e-05	0.0002	0.0001	8.961e-05	8.944e-05	0	0	0	0.0007	0.0001	0.0001	2.319e-05	9.194e-05	9.187e-05	7.71e-05	0.0001	0.0002	5.525e-05	4.362e-05	5.842e-05	4.239e-05	9.622e-05	0	6.54e-05	0	0	0	0	0.0001	0	0.0002	0.276	0.19090	T	0.29	0.21011	T	0.138	0.27452	B	0.05	0.25278	B	0.043901	0.23694	N	0.489229	1	0.08975	N	2.125	0.59049	M	-2.47	0.88997	D	-0.65	0.18877	N	0.382	0.45331	-0.6234	0.63847	T	0.424	0.76790	T	9	0.08387053	0.13996	T	0.143305	0.82563	D	0.282	0.59981	.	.	0.82247249236	0.82079	0.7440498596277144	0.74350	0.17845421502	0.20078	0.352921783924	0.18351	T	0.00251	0.01904	T	-0.118722	0.33332	T	-0.182611	0.56281	T	0.0318544868548192	0.02282	T	0.821518	0.48098	T	0.04123371	0.06034	0.073032066	0.15823	0.04123371	0.06033	0.073032066	0.15822	-1.73	0.02309	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	1.270116	0.16691	12.70	0.89921166535329822	0.19220	0.47250	0.27941	N	AEFDGBHCI	0.227862	0.35161	N	-0.760233508220074	0.14357	0.714486	-0.825587199858389	0.13875	0.7221611	0.999999943475808	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	-2.37	0.06262	1.470000	0.34963	0.362000	0.17587	0.660000	0.55035	0.740000	0.29026	0.001000	0.17328	0.478000	0.28520	0.1271:0.3502:0.0:0.5227	5.318	0.15174	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	36	chr13	39047751	.	T	A	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=750;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-1.326;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr13	39047786	39047786	A	C	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.A703C:p.I235L,NHLRC3:NM_001012754:exon7:c.A904C:p.I302L	.	430	1090	2	0	0	2	0.00091659	.	.	.	2261778	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.0881059642491	7.7e-05	0.000199681	9.893e-05	9.63e-05	0	0	0	0.0001	0	6.061e-05	9.06e-05	14	154602	rs145181998	9.714e-05	9.782e-05	8.848e-05	0.0001	0.0007	8.376e-05	7.915e-05	0.0002	0.0001	8.961e-05	8.944e-05	0	2.519e-05	0	0.0007	0.0001	0.0001	1.159e-05	9.193e-05	9.186e-05	7.71e-05	0.0001	0.0002	5.524e-05	4.362e-05	5.843e-05	4.24e-05	9.624e-05	0	6.538e-05	0	0	0	0	0.0001	0	0.0002	0.371	0.21718	T	0.027	0.55341	D	0.005	0.12996	B	0.004	0.10090	B	0.000000	0.84330	N	0.044225	0.502039	0.31749	D	1.545	0.39105	L	-2.64	0.90147	D	-0.65	0.20358	N	0.196	0.21580	-0.1621	0.78619	T	0.609	0.86157	D	9	0.097213835	0.17492	T	0.088106	0.75069	D	0.291	0.61040	.	.	0.856168017976	0.85478	0.2967151152774672	0.29584	0.074021349871	0.08297	0.579937577248	0.50077	T	0.003229	0.02636	T	-0.174127	0.24612	T	-0.262196	0.48605	T	0.0418706648051739	0.04031	T	0.728227	0.34274	T	0.13621743	0.31585	0.10605791	0.25506	0.13621743	0.31585	0.10605791	0.25505	-2.975	0.09914	T	.	.	0.116	0.28636	B	.;.;.	.;.;.	2.236315	0.28549	17.83	0.96442035518130675	0.29834	0.85831	0.45009	D	ALL	0.285460	0.39808	N	-0.254625393472529	0.30920	1.728642	-0.155047387338805	0.33215	1.89765	0.999999982070611	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	2.9	0.32809	3.082000	0.49825	0.967000	0.23031	0.750000	0.87069	0.992000	0.37556	0.016000	0.20520	0.994000	0.71098	0.6853:0.2455:0.0693:0.0	8.350	0.31460	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	36	chr13	39047786	.	A	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=749;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-1.165;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr13	40756891	40756891	G	A	exonic	MRPS31	.	nonsynonymous SNV	MRPS31:NM_005830:exon4:c.C722T:p.T241M	.	435	1037	47	3	0	53	0.0249177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0064	0.00399361	0.0079	0.0015	0.0036	0	0.0012	0.0106	0.0121	0.0110	0.0079753	1233	154602	rs1854421	0.0084	0.0084	0.0082	0.0085	0.0191	0.0082	0.0082	0.0162	0.0151	0.0016	0.0037	0.0080	0.0001	0.0022	0.0191	0.0090	0.0078	0.0121	0.0061	0.0061	0.0065	0.0056	0.0100	0.0058	0.0056	0.0093	0.0091	0.0015	0.0077	0.0039	0.0092	0	0.0012	0.0238	0.0100	0.0090	0.0099	0.158	0.23905	T	0.119	0.36101	T	0.986	0.61523	D	0.579	0.50152	P	0.206949	0.16459	N	0.621842	1	0.08975	N	2.24	0.63355	M	1.49	0.31470	T	-1.08	0.28084	N	0.06	0.03175	-1.0702	0.09370	T	0.064	0.26527	T	10	0.0032079816	0.00054	T	.	.	.	0.034	0.08419	.	.	0.165133752707	0.16062	0.3966433874673616	0.39579	0.0876846533766	0.09892	0.363172501326	0.19847	T	0.002963	0.02360	T	-0.605771	0.00134	T	-0.6306	0.10369	T	0.00946537645361175	0.00122	T	0.490351	0.15073	T	0.016366284	0.00193	0.02809085	0.01015	0.016366284	0.00193	0.02809085	0.01015	-4.536	0.31356	T	.	.	0.087	0.11027	B	.	.	1.271184	0.16702	12.71	0.99353054090889747	0.60656	0.08783	0.14661	N	AEFDGBCI	0.083124	0.16839	N	-0.32727193752275	0.28115	1.548149	-0.521361080291484	0.21574	1.167691	0.999991125211806	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.91	1.96	0.25203	-0.222000	0.09195	-0.189000	0.11056	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0972:0.3559:0.5468:0.0	7.500	0.26678	949	0.11373	.	.	.	.	.	rs1854421	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.015152	0.005435	0.029240	0.000000	0.025862	0.033537	0.015152	0.02632	1525.33	34	chr13	40756891	.	G	A	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=820;ExcessHet=0;FS=1.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.297;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr13	40933871	40933871	G	T	exonic	ELF1	.	nonsynonymous SNV	ELF1:NM_001145353:exon8:c.C1342A:p.P448T,ELF1:NM_001370330:exon9:c.C1414A:p.P472T,ELF1:NM_001370331:exon9:c.C1414A:p.P472T,ELF1:NM_172373:exon9:c.C1414A:p.P472T,ELF1:NM_001370329:exon10:c.C1237A:p.P413T,ELF1:NM_001370332:exon11:c.C1414A:p.P472T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	.	7.7e-05	0.00159744	0.0015	0	0	0	0	0	0	0.0108	0.0012419	192	154602	rs372346993	0.0007	0.0007	0.0003	0.0010	0.0107	0.0006	0.0006	0.0101	0.0099	0	2.236e-05	0	0	0	0.0002	3.597e-06	0.0005	0.0107	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	2.405e-05	0	0	0	0	0	0	0	0	0.0093	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.063505	0.999977	0.53665	D	2.085	0.57729	M	0.68	0.51952	T	-5.51	0.85921	D	0.824	0.90590	-0.6306	0.63545	T	0.241	0.60917	T	10	0.009188652	0.00208	T	.	.	.	0.423	0.73152	.	.	0.729326936498	0.72692	0.6998848025425075	0.69929	0.726405634314	0.62510	0.695897579193	0.66552	T	0.742839	0.92892	D	-0.0615711	0.42662	T	0.148176	0.80069	D	0.114386356917936	0.13872	T	0.926107	0.72788	D	0.8277906	0.85749	0.8192305	0.89489	0.8277906	0.85750	0.8192305	0.89489	-8.631	0.65339	D	.	.	0.225	0.62718	B	.;.;.	.;.;.	4.678143	0.74840	26.2	0.9977123616092588	0.85918	0.98468	0.83094	D	AEFGBI	0.866017	0.78530	D	0.728519163930503	0.81503	7.537225	0.748071557747647	0.86012	8.755407	0.999999999998854	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.679000	0.83364	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.271	0.93998	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1313.33	34	chr13	40933871	.	G	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.925;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.08;SOR=0.711	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1402	18	0	1	0
chr13	40941252	40941252	C	T	exonic	ELF1	.	nonsynonymous SNV	ELF1:NM_001145353:exon7:c.G853A:p.E285K,ELF1:NM_001370330:exon8:c.G925A:p.E309K,ELF1:NM_001370331:exon8:c.G925A:p.E309K,ELF1:NM_172373:exon8:c.G925A:p.E309K,ELF1:NM_001370329:exon9:c.G748A:p.E250K,ELF1:NM_001370332:exon10:c.G925A:p.E309K	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0172996340668	.	0.000399361	0.0002	0	0	0	0	1.498e-05	0	0.0015	0.0001746	27	154602	rs532698900	5.404e-05	5.404e-05	3.539e-05	7.288e-05	0.0009	4.41e-05	4.082e-05	0.0007	0.0007	0	0	0	0	0	0	0	4.967e-05	0.0009	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	0.017	0.51248	D	0.238	0.28764	T	0.952	0.54136	P	0.601	0.50808	P	0.000001	0.84330	D	0.053605	0.998846	0.51308	D	2.045	0.56016	M	0.57	0.54347	T	-1.52	0.36980	N	0.402	0.45426	-0.7669	0.57027	T	0.191	0.54345	T	10	0.03274399	0.01432	T	0.017	0.38942	T	0.106	0.30130	0.372	0.38340	0.332801854358	0.32887	0.4208882438413937	0.42004	0.306447022474	0.32941	0.554910063744	0.46549	T	0.151684	0.49174	T	-0.338768	0.05474	T	-0.304945	0.44201	T	0.149760110865348	0.17085	T	0.905309	0.67793	D	0.22403842	0.45037	0.26293185	0.52092	0.22403842	0.45037	0.26293185	0.52091	-5.101	0.37918	T	.	.	0.183	0.39697	B	.;.;.	.;.;.	3.712323	0.53000	23.3	0.9992695840723187	0.99163	0.99206	0.92796	D	AEFBI	0.648242	0.62313	D	0.497447420841467	0.66941	5.015755	0.555012876166892	0.71748	5.702166	0.999999951893904	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.782000	0.55107	6.005000	0.52551	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.689	0.95989	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1755.33	35	chr13	40941252	.	C	T	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=775;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=1.15;SOR=0.477	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr13	41132492	41132492	G	A	exonic	KBTBD6	.	nonsynonymous SNV	KBTBD6:NM_152903:exon1:c.C20T:p.A7V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0004	0.00319489	0.0015	0.0002	0.0002	0.0191	0	7.552e-05	0.0022	6.193e-05	0.001326	205	154602	rs200762614	0.0006	0.0006	0.0006	0.0006	0.0203	0.0006	0.0006	0.0191	0.0186	0.0003	8.944e-05	0	0.0203	0	0.0005	1.619e-05	0.0009	4.638e-05	0.0008	0.0008	0.0007	0.0008	0.0175	0.0006	0.0006	0.0146	0.0136	0.0004	0	0.0002	0	0.0175	0	0	4.411e-05	0	0.0002	0.131	0.26629	T	0.647	0.06812	T	0.001	0.07471	B	0.001	0.04355	B	0.017898	0.27612	N	0.167338	1	0.08975	N	0.55	0.14455	N	-1.0	0.76037	T	-0.51	0.15986	N	0.091	0.06990	-0.9367	0.43134	T	0.115	0.40875	T	10	0.002339065	0.00034	T	.	.	.	0.207	0.49555	.	.	0.292174397486	0.28832	0.5047263291960831	0.50394	0.965204057572	0.73154	0.413711667061	0.26969	T	0.018571	0.14948	T	-0.395255	0.02487	T	-0.325597	0.41957	T	0.010826278477565	0.00154	T	0.631737	0.24648	T	0.113632776	0.26835	0.2153217	0.46116	0.113632776	0.26835	0.2153217	0.46115	-4.156	0.26112	T	.	.	0.076	0.06024	B	.	.	2.573573	0.33351	19.32	0.9948626163197023	0.67180	0.01097	0.04030	N	ALL	0.046258	0.07661	N	-0.554986457393315	0.20327	1.070772	-0.427714288609832	0.24188	1.323142	0.999999999877399	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.86	3.86	0.43689	1.677000	0.37192	3.077000	0.36224	0.373000	0.20310	0.012000	0.18695	0.306000	0.24247	0.982000	0.59238	0.0:0.0:1.0:0.0	11.475	0.49536	592	0.68746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1317.33	38	chr13	41132492	.	G	A	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.109;DP=840;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.019;SOR=0.905	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr13	41331301	41331301	A	T	exonic	NAA16	.	nonsynonymous SNV	NAA16:NM_001110798:exon8:c.A839T:p.Y280F,NAA16:NM_018527:exon8:c.A839T:p.Y280F,NAA16:NM_024561:exon8:c.A839T:p.Y280F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0126499703548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.035	0.52389	D	0.329	0.33227	B	0.327	0.41976	B	0.000169	0.48594	D	0.088698	0.999923	0.51308	D	2.26	0.64354	M	0.41	0.57100	T	-2.75	0.62343	D	0.468	0.51137	-0.8716	0.50409	T	0.196	0.55013	T	10	0.26585484	0.44085	T	0.01265	0.31409	T	0.190	0.46781	0.612	0.74535	0.37097340754	0.36704	0.4121780232302479	0.41133	0.101249323043	0.11452	0.588627755642	0.51300	T	0.216786	0.57905	T	0.00271469	0.52027	T	-0.233877	0.51396	T	0.896781504154205	0.54857	D	0.948805	0.80311	D	0.22704008	0.45397	0.17595027	0.40096	0.22704008	0.45397	0.17595027	0.40095	-6.504	0.54544	T	.	.	0.180	0.39134	B	.;.	.;.	2.419685	0.31114	18.64	0.97350771983523454	0.33520	0.95609	0.65407	D	AEFBI	0.547535	0.56119	D	0.00926957456102959	0.42275	2.544174	0.120988199035615	0.45625	2.822266	0.999884755272965	0.44867	0.706298	0.61202	0	0.708844	0.79440	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.53	4.32	0.50899	4.554000	0.60470	6.341000	0.55476	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8603:0.1396:0.0:0.0	12.524	0.55420	717	0.55835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	38	chr13	41331301	.	A	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=704;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.215;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	18	0	1	0
chr13	41887280	41887280	C	A	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon6:c.G733T:p.V245L,VWA8:NM_015058:exon6:c.G733T:p.V245L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0342125775627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201868054	7.527e-06	7.524e-06	6.808e-06	8.253e-06	0.0016	4.04e-06	2.95e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	0	2.32e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.039	0.52389	D	0.967	0.56408	D	0.928	0.66279	D	0.000005	0.62929	D	0.000000	0.999996	0.58761	D	3.005	0.85968	M	1.55	0.29866	T	-2.07	0.47344	N	0.863	0.88356	-0.6649	0.62059	T	0.213	0.57414	T	10	0.7797898	0.77758	D	0.034213	0.55525	D	0.260	0.57221	0.558	0.67684	0.558031983626	0.55463	0.7300212241937355	0.72947	0.318032334486	0.34034	0.657621741295	0.61069	T	0.231386	0.59769	T	0.104646	0.64791	D	-0.0874604	0.64353	T	0.988149523735046	0.78518	D	0.910209	0.74231	D	0.62774473	0.74178	0.40946877	0.65235	0.62774473	0.74179	0.40946877	0.65235	-10.672	0.77981	D	.	.	0.806	0.77584	P	.;.	.;.	4.696850	0.75312	26.3	0.99772046962669092	0.86003	0.97097	0.72672	D	AEFDBI	0.716537	0.66834	D	0.812241903677076	0.86868	9.02486	0.760652621892091	0.86953	9.056802	0.999999576768718	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.046000	0.70661	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9239:0.0:0.0761	13.269	0.59583	833	0.38804	ATPase, dynein-related, AAA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	33	chr13	41887280	.	C	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=693;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.242;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	18	0	1	0
chr13	42300272	42300272	C	T	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.C1526T:p.T509I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0152407981966	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768865494	4.105e-06	4.104e-06	1.362e-06	6.877e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	1.657e-05	2.32e-05	1.315e-05	1.313e-05	0	2.691e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.009	0.57480	D	0.07	0.43721	T	0.029	0.19866	B	0.009	0.14300	B	0.035811	0.01808	U	421.087000	1	0.08975	N	1.61	0.41143	L	0.65	0.52642	T	-0.89	0.24026	N	0.15	0.15328	-1.0083	0.27448	T	0.126	0.43257	T	10	0.071614236	0.10582	T	0.015241	0.35857	T	0.048	0.13305	.	.	0.216943180021	0.21308	0.11420177038766537	0.11348	0.0723974001252	0.08119	0.329601883888	0.14874	T	0.004176	0.03581	T	-0.214648	0.18729	T	-0.546104	0.17701	T	0.156438749911296	0.17605	T	0.709529	0.32034	T	0.053491667	0.10131	0.05256129	0.08682	0.053491667	0.10131	0.05256129	0.08681	-3.635	0.18364	T	.	.	0.132	0.28521	B	.	.	0.314096	0.06893	3.427	0.96260964504141544	0.29215	0.34456	0.25071	N	AEFBCI	0.069697	0.13806	N	-0.629960854365577	0.18049	0.9339046	-0.626989208827852	0.18801	1.005944	0.998167778400248	0.36515	0.706548	0.73137	0	0.724815	0.89359	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	5.63	3.85	0.43556	0.926000	0.28405	-0.808000	0.07346	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.124:0.5621:0.2413:0.0726	6.423	0.20958	694	0.58444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1684.33	34	chr13	42300272	.	C	T	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.291;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.121;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	118.33	34	chr13	42303096	.	G	C	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.225;DP=1340;ExcessHet=0;FS=310.121;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.15;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,18:125:44:.:.:0,44,3116:.	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,49:135:99:.:.:620,0,1865:.	3	0	15	1
chr13	42888366	42888366	G	A	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001002264:exon13:c.C1117T:p.R373C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00453552585229	.	.	1.648e-05	0	0	0	0.0002	1.499e-05	0	0	1.29e-05	2	154602	rs764396320	1.573e-05	1.573e-05	1.633e-05	1.513e-05	1.799e-05	1.048e-05	8.75e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	3.312e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.423e-05	0	2.939e-05	0	0	0.108	0.29420	T	.	.	.	0.989	0.62824	D	0.193	0.36509	B	0.002163	0.00864	U	15.549300	1	0.08975	N	.	.	.	.	.	.	-0.34	0.12661	N	0.167	0.17691	-1.0101	0.26886	T	0.033	0.14029	T	8	0.10155988	0.18563	T	0.004536	0.11157	T	0.129	0.35316	0.333	0.32005	0.282179105231	0.27821	0.09781319277770936	0.09712	0.162458877805	0.18328	0.204501956701	0.00599	T	.	.	.	-0.292746	0.09362	T	-0.6428	0.09466	T	0.283552676439285	0.24320	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.591	0.17727	T	.	.	0.149	0.32922	B	.	.	0.109631	0.05093	1.628	0.86226907584464252	0.16396	0.00240	0.01331	N	AEFBI	0.049293	0.08500	N	-0.903153591333003	0.10767	0.5162013	-1.06434812721302	0.08411	0.4134229	0.837176387311245	0.24800	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.53	-2.05	0.06916	0.729000	0.25696	0.245000	0.16356	-1.548000	0.00966	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4115:0.1445:0.1651:0.2789	0.386	0.00374	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	37	chr13	42888366	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=845;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.358;SOR=0.531	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr13	42917545	42917545	T	G	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001331228:exon7:c.A356C:p.Q119P,EPSTI1:NM_033255:exon8:c.A737C:p.Q246P,EPSTI1:NM_001002264:exon9:c.A770C:p.Q257P,EPSTI1:NM_001330543:exon9:c.A770C:p.Q257P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00893263065901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1184115838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.031	0.54934	D	0.965	0.56013	D	0.663	0.52893	P	0.642864	0.10583	N	0.831722	0.999943	0.19238	N	2.14	0.59869	M	1.95	0.22474	T	-2.87	0.61129	D	0.614	0.63459	-1.0445	0.15971	T	0.072	0.29291	T	10	0.3082819	0.48325	T	0.008933	0.23535	T	0.116	0.32463	0.22	0.14224	0.290962096972	0.28708	0.295559408752203	0.29468	0.520747388176	0.49866	0.260202109814	0.04914	T	0.046555	0.27458	T	-0.0881745	0.38378	T	-0.364433	0.37539	T	0.612977738312738	0.36920	D	0.720728	0.34152	T	0.31904098	0.54559	0.3672125	0.62035	0.31904098	0.54559	0.3672125	0.62035	-8.616	0.66531	D	.	.	0.426	0.60988	A	.;.;.	.;.;.	1.876585	0.23837	16.17	0.98231536146831466	0.39396	0.18400	0.20245	N	AEFI	0.384958	0.46588	N	-0.469811308401626	0.23074	1.236536	-0.666949864066207	0.17789	0.9474701	0.0979708819114805	0.16293	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.836244	0.99985	0	.	.	4.23	0.463	0.15912	0.155000	0.16180	-0.977000	0.06726	-0.123000	0.13640	0.009000	0.18154	0.001000	0.17328	0.264000	0.23619	0.0:0.4004:0.0:0.5996	7.115	0.24588	497	0.76227	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	37	chr13	42917545	.	T	G	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=768;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.743;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr13	43881097	43881097	A	G	exonic	LACC1	.	nonsynonymous SNV	LACC1:NM_001128303:exon2:c.A112G:p.K38E,LACC1:NM_001350639:exon2:c.A112G:p.K38E,LACC1:NM_001350640:exon2:c.A112G:p.K38E,LACC1:NM_001350642:exon2:c.A112G:p.K38E,LACC1:NM_001350643:exon2:c.A112G:p.K38E,LACC1:NM_153218:exon2:c.A112G:p.K38E,LACC1:NM_001350638:exon3:c.A112G:p.K38E,LACC1:NM_001350641:exon3:c.A112G:p.K38E	.	433	1080	9	0	0	9	0.00414938	.	.	.	725494	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0034	0.00219649	0.0058	0.0008	0.0012	0	0.0246	0.0068	0.0044	0.0038	0.0052457	811	154602	rs34414396	0.0055	0.0055	0.0055	0.0055	0.0052	0.0054	0.0053	0.0051	0.0050	0.0007	0.0014	0.0018	2.52e-05	0.0282	0.0028	0.0052	0.0040	0.0041	0.0048	0.0048	0.0039	0.0058	0.0058	0.0045	0.0044	0.0043	0.0041	0.0006	0	0.0022	0.0020	0	0.0297	0.0034	0.0047	0.0019	0.0058	0.395	0.13479	T	0.675	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.072790	0.21387	N	0.511596	0.999998	0.08975	N	2.175	0.60977	M	0.95	0.43279	T	-0.13	0.09627	N	0.162	0.21449	-1.0605	0.11632	T	0.060	0.25018	T	10	0.0053784847	0.00118	T	.	.	.	0.104	0.29647	.	.	0.431712495121	0.42787	0.28450446295816195	0.28363	0.461506570512	0.45687	0.335830688477	0.15814	T	0.007549	0.06949	T	-0.477375	0.00766	T	-0.45602	0.27033	T	0.0119601001583902	0.00188	T	0.627737	0.33447	T	0.1015104	0.23978	0.08226611	0.18761	0.07075277	0.15611	0.08226611	0.18761	-3.595	0.17785	T	0.07325505011400221	0.03075	0.072	0.17445	B	.;.;.	.;.;.	1.879642	0.23878	16.18	0.97710371371446192	0.35489	0.71929	0.35227	D	AEFDBIJ	0.202722	0.32929	N	-0.262925345493585	0.30590	1.707147	-0.129642830760159	0.34201	1.964689	0.99999791795644	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.590023	0.30420	0	0.655142	0.61905	0	.	.	5.86	4.7	0.58776	2.697000	0.46727	4.637000	0.44139	0.756000	0.94297	0.959000	0.33545	0.999000	0.35428	0.150000	0.20306	0.7632:0.1592:0.0776:0.0	7.235	0.25240	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1273.33	34	chr13	43881097	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=741;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-2.007;SOR=0.433	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	18	0	1	0
chr13	44965895	44965895	A	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.T776C:p.L259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0144087814662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.903e-07	6.157e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.282	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.005665	0.32605	N	0.251292	0.966265	0.38519	D	2.295	0.65404	M	0.85	0.47130	T	-1.99	0.45949	N	0.514	0.54496	-0.6955	0.60652	T	0.249	0.61901	T	10	0.5624459	0.64864	D	0.014409	0.34508	T	0.244	0.55061	0.396	0.42262	0.933169900923	0.93248	0.4243458889454756	0.42351	0.36963300804	0.38492	0.709573328495	0.68531	T	0.162448	0.50711	T	-0.0462581	0.45015	T	-0.304223	0.44277	T	0.983038306236267	0.74855	D	0.738826	0.35731	T	0.087933496	0.20495	0.09190997	0.21632	0.087933496	0.20495	0.09190997	0.21632	-8.196	0.62398	D	.	.	0.619	0.69677	P	.	.	4.401510	0.68008	25.2	0.99859594864487256	0.93820	0.88633	0.48653	D	AEGBI	0.414746	0.48388	N	0.562722688727334	0.70862	5.564027	0.535488571739612	0.70396	5.498846	0.999861258649048	0.44398	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.89	0.63387	4.597000	0.60770	8.089000	0.76512	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.074	0.47240	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	80.83	20	chr13	44965895	.	A	G	80.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.16;DP=540;ExcessHet=0.119;FS=37.455;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.972;SOR=4.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:81:.:.:0,81,1215:.	17	0	2	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:17:.:.:0,17,500:.	9	0	5	5
chr13	44965900	44965900	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G771C:p.K257N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0253873447107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.773e-06	0.0001	4.139e-06	1.393e-06	3.632e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.632e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047982	0.790806	0.34384	D	3.075	0.87202	M	0.61	0.53516	T	-3.07	0.63207	D	0.288	0.32591	-0.5372	0.67270	T	0.252	0.62166	T	10	0.30921462	0.48411	T	0.025387	0.48361	D	0.237	0.54074	0.438	0.49157	0.743235531803	0.74093	0.5241263841645443	0.52336	0.0902298067989	0.10174	0.711288809776	0.68780	T	0.310826	0.68275	T	-0.111599	0.34506	T	-0.39808	0.33608	T	0.990731418132782	0.80964	D	0.736726	0.35329	T	0.50261134	0.67248	0.42648375	0.66424	0.50261134	0.67249	0.42648375	0.66424	-6.336	0.49007	T	.	.	0.358	0.57110	A	.	.	2.415787	0.31060	18.63	0.99646254664749256	0.77005	0.10395	0.15914	N	AEFGBI	0.069158	0.13675	N	-0.129840413229396	0.36096	2.081967	-0.315961563612778	0.27583	1.531588	0.949366607212065	0.27843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	-2.77	0.05529	-0.398000	0.07320	-0.821000	0.07295	-0.167000	0.11441	0.099000	0.22773	0.016000	0.20520	0.997000	0.79791	0.0:0.4507:0.0:0.5493	9.189	0.36350	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	57.36	17	chr13	44965900	.	C	G	57.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=424;ExcessHet=0;FS=18.032;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.183;SOR=3.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:69:.:.:0,69,710:.	18	0	1	0
chr13	44965903	44965903	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G768C:p.K256N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.079468754605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.256e-06	0.0002	6.919e-06	5.588e-06	2.57e-05	2.94e-06	2.13e-06	2.65e-06	1.71e-06	0	0	0	2.57e-05	0	0	6.375e-06	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048141	0.998998	0.45836	D	3.485	0.92608	M	-0.0	0.62608	T	-4.03	0.74348	D	0.621	0.63628	-0.1080	0.79915	T	0.451	0.78515	T	10	0.7805929	0.77821	D	0.079469	0.73241	D	0.493	0.77910	0.534	0.64293	0.937841110162	0.93719	0.8097941414879597	0.80934	0.341759167531	0.36122	0.73443365097	0.72155	T	0.476975	0.80740	T	0.0379889	0.56782	T	-0.183208	0.56225	T	0.998566806316376	0.94507	D	0.845915	0.52533	T	0.5997311	0.72677	0.4414634	0.67429	0.5997311	0.72678	0.4414634	0.67430	-7.628	0.58506	D	.	.	0.979	0.91004	P	.	.	4.075358	0.60581	24.2	0.99859704594771792	0.93820	0.75947	0.37213	D	AEFGBI	0.127683	0.24514	N	0.589014654832026	0.72490	5.813697	0.489100109564107	0.67266	5.061066	0.995600798420479	0.34219	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.01	0.45821	1.083000	0.30427	1.768000	0.28610	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8802:0.0:0.1198	7.968	0.29270	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1154	145.49	13	chr13	44965903	.	C	G	145.49	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-0.974;DP=309;ExcessHet=0.3672;FS=90.35;InbreedingCoeff=-0.2387;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.793;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:27:.:.:0,27,408:.	10	0	3	6
chr13	45015481	45015481	C	G	exonic	GPALPP1	.	nonsynonymous SNV	GPALPP1:NM_001316951:exon6:c.C590G:p.P197R,GPALPP1:NM_001316952:exon6:c.C221G:p.P74R,GPALPP1:NM_018559:exon6:c.C590G:p.P197R	.	430	1072	19	1	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.00865668430063	0.0056	0.00199681	0.0040	0.0009	0.0029	0	0.0008	0.0051	0.0033	0.0061	0.0042237	653	154602	rs151309735	0.0051	0.0051	0.0049	0.0052	0.0068	0.0050	0.0049	0.0056	0.0056	0.0005	0.0025	0.0040	0	0.0006	0.0068	0.0057	0.0038	0.0060	0.0035	0.0035	0.0037	0.0033	0.0061	0.0033	0.0032	0.0056	0.0054	0.0009	0	0.0017	0.0046	0	0.0008	0.0034	0.0061	0.0028	0.0058	0.131	0.59928	T	0.076	0.56640	T	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.095253	1	0.81001	D	2.815	0.81989	M	.	.	.	-4.21	0.82575	D	0.645	0.66358	-0.2055	0.77528	T	0.374	0.73265	T	9	0.012657493	0.00271	T	0.008657	0.22878	T	0.240	0.54500	.	.	0.684793281163	0.68210	0.0973502243700874	0.09666	0.495361560932	0.48073	.	.	.	0.405594	0.76173	T	-0.211822	0.19122	T	-0.0705044	0.65590	T	0.0186101818288351	0.00575	T	0.931307	0.74459	D	0.528335	0.68736	0.405067	0.64917	0.528335	0.68737	0.405067	0.64917	-9.776	0.79438	D	.	.	0.228	0.46049	B	.;.;.	.;.;.	4.629322	0.73586	26.0	0.99834511355337385	0.91542	0.88192	0.48011	D	AEFDBHCIJ	0.839588	0.75698	D	0.831741085997873	0.88047	9.433414	0.812093758802564	0.90622	10.49155	1.0	0.98316	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.662026	0.63922	0	.	.	5.51	5.51	0.81769	7.282000	0.77993	5.942000	0.51497	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.782	0.91904	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2065.33	35	chr13	45015481	.	C	G	2065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=831;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.245;SOR=0.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	18	0	1	0
chr13	45713572	45713572	C	A	exonic	CBY2	.	nonsynonymous SNV	CBY2:NM_001286341:exon2:c.C466A:p.R156S,CBY2:NM_001286342:exon3:c.C439A:p.R147S,CBY2:NM_152719:exon3:c.C547A:p.R183S	.	.	.	.	.	.	.	.	.	.	.	3292145	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0679079979989	0.0012	0.00119808	0.0009	9.66e-05	0.0009	0	0	0.0014	0	0	0.0009444	146	154602	rs147259767	0.0011	0.0011	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0013	0.0002	0.0005	0.0002	0	0.0003	0.0003	0.0013	0.0013	1.159e-05	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0009	0	0	9.427e-05	0	0.0013	0.0019	0	0.01	0.58626	D	0.024	0.92824	D	0.97	0.90584	D	0.894	0.88582	P	0.000103	0.50451	D	0.000000	0.99377	0.25038	N	2.125	0.59049	M	0.28	0.59449	T	-3.14	0.64019	D	0.788	0.78451	-0.7696	0.56879	T	0.258	0.62912	T	10	0.0147639215	0.00310	T	0.067908	0.70302	D	0.231	0.53208	.	.	0.705647642926	0.70308	0.7047793862376633	0.70419	1.17107731969	0.79766	0.351107656956	0.18084	T	0.388875	0.74945	T	-0.0963427	0.37028	T	0.0534557	0.73811	D	0.0840429810987086	0.10496	T	0.820618	0.51127	T	0.2258207	0.45251	0.23641934	0.48913	0.2258207	0.45251	0.23641934	0.48912	-7.047	0.54515	T	.	.	0.825	0.81833	P	.;.;.;.	.;.;.;.	2.488418	0.32099	18.94	0.99516780362242618	0.68979	0.50353	0.28643	D	AEFDBI	0.081089	0.16403	N	0.0892634740405616	0.45963	2.84415	0.0108818818535089	0.40219	2.39679	0.188760102776262	0.17972	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.1	3.34	0.37357	0.032000	0.13620	1.079000	0.23874	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.121000	0.19209	0.3176:0.6824:0.0:0.0	11.759	0.51161	718	0.55760	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1498.33	35	chr13	45713572	.	C	A	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.069;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr13	45970446	45970446	C	G	exonic	ZC3H13	.	nonsynonymous SNV	ZC3H13:NM_001382214:exon10:c.G1987C:p.G663R,ZC3H13:NM_001076788:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330564:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330565:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330567:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382207:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382208:exon13:c.G2488C:p.G830R,ZC3H13:NM_001382210:exon13:c.G2488C:p.G830R,ZC3H13:NM_015070:exon13:c.G2488C:p.G830R,ZC3H13:NM_001330566:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382206:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382209:exon14:c.G2488C:p.G830R,ZC3H13:NM_001382211:exon14:c.G2572C:p.G858R,ZC3H13:NM_001382212:exon14:c.G2572C:p.G858R,ZC3H13:NM_001382213:exon14:c.G2572C:p.G858R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00762400702793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	9.577e-06	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.583	0.08419	T	0.779	0.47319	P	0.235	0.44907	B	0.000156	0.49130	D	0.087577	0.977813	0.39402	D	0.895	0.22405	L	2.53	0.30401	T	-0.77	0.21429	N	0.392	0.43320	-1.1267	0.01947	T	0.044	0.18989	T	10	0.16020203	0.30082	T	0.007624	0.20219	T	0.106	0.30130	0.378	0.39319	0.043077524339	0.03247	0.07911658979170291	0.07846	0.410152022438	0.41809	.	.	.	0.009913	0.08996	T	-0.122369	0.32738	T	-0.413551	0.31818	T	0.602753049113717	0.36509	D	0.816918	0.47330	T	0.2341677	0.46232	0.19447622	0.43072	0.2341677	0.46232	0.19447622	0.43072	-0.281	0.00472	T	.	.	0.919	0.84099	P	.;.	.;.	4.261732	0.64772	24.7	0.98704051720380592	0.44953	0.97612	0.75899	D	AEFBI	0.788839	0.71821	D	0.317944642097735	0.57069	3.873031	0.444560553296875	0.64367	4.690396	0.993695492639894	0.33317	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.93	4.98	0.65679	5.274000	0.65380	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6851:0.0:0.3148	3.919	0.08735	677	0.60274	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	52.71	54	chr13	45970446	.	C	G	52.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.205;DP=915;ExcessHet=0;FS=116.371;InbreedingCoeff=-0.0412;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.715;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	17	0	1	1
chr13	46082502	46082502	T	C	exonic	CPB2	.	nonsynonymous SNV	CPB2:NM_001278541:exon4:c.A323G:p.N108S,CPB2:NM_001872:exon4:c.A323G:p.N108S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0127547941444	.	0.000199681	8.238e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs201278346	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.832	0.07473	T	0.589	0.08870	T	0.966	0.56202	D	0.14	0.33554	B	0.000000	0.84330	D	0.087436	0.987354	0.40577	D	2.16	0.60381	M	1.6	0.28604	T	-1.68	0.45222	N	0.476	0.51940	-1.0578	0.12311	T	0.089	0.34188	T	10	0.20324573	0.36473	T	0.012755	0.31594	T	0.160	0.41473	.	.	0.402899589544	0.39908	0.5435022571964878	0.54276	0.551534003631	0.51990	0.390689313412	0.23767	T	0.23524	0.60245	T	-0.244088	0.14831	T	-0.588392	0.13805	T	0.336030331429386	0.26466	T	0.770023	0.39993	T	0.48015812	0.65910	0.29679233	0.55713	0.48015812	0.65910	0.29679233	0.55712	-4.005	0.23878	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	2.276663	0.29103	18.02	0.91363603991018638	0.20628	0.90407	0.51558	D	AEFDGBI	0.788159	0.71773	D	0.0442522169413464	0.43878	2.67228	0.0173002234650802	0.40519	2.419419	0.995086604411265	0.33945	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	6.395000	0.73157	6.069000	0.53240	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	13.825	0.62836	599	0.68140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3264.77	35	chr13	46082502	.	T	C	3264.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.708;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.891;SOR=0.706	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2223,222,0	17	1	1	0
chr13	46553653	46553653	T	G	exonic	LRCH1	.	nonsynonymous SNV	LRCH1:NM_001164211:exon1:c.T257G:p.F86C,LRCH1:NM_001164213:exon1:c.T257G:p.F86C,LRCH1:NM_015116:exon1:c.T257G:p.F86C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.424751309544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0017	0.0011	0.0011	0.0062	0.0011	0.0011	0.0055	0.0053	0.0018	0.0007	0.0015	0.0062	0.0076	0.0011	0.0007	0.0022	0.0001	6.625e-06	4.616e-05	0	1.356e-05	.	0	0	.	.	0	0	0	0	0	9.752e-05	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.005710	0.32572	N	0.186994	1	0.81001	D	0.975	0.24501	L	2.18	0.18875	T	-6.06	0.90254	D	0.747	0.82862	-0.9467	0.41532	T	0.126	0.43257	T	10	0.7817159	0.77908	D	0.424751	0.93864	D	0.414	0.72479	0.51	0.60693	0.396908593892	0.39302	0.7944356372558592	0.79396	1.01195624948	0.74809	0.954575836658	0.99837	D	0.165915	0.51195	T	0.164239	0.70593	D	-0.00185888	0.70215	D	0.997773230075836	0.92389	D	0.988401	0.96008	D	0.6864665	0.77319	0.5428026	0.73575	0.6864665	0.77320	0.5428026	0.73575	-11.464	0.82225	D	.	.	0.994	0.95290	P	.;.;.	.;.;.	5.286680	0.88766	29.7	0.99408479785307902	0.63169	0.93335	0.57942	D	AEFDBCI	0.842071	0.75921	D	0.672100961632889	0.77806	6.74595	0.620229597275742	0.76409	6.485958	0.999999999998911	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	4.51	4.51	0.54589	7.323000	0.78378	7.551000	0.60274	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	13.041	0.58310	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	35	chr13	46553653	.	T	G	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=697;ExcessHet=0;FS=13.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.38;SOR=3.72	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1108	18	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	11	0	8	0
chr13	48510702	48510702	A	T	exonic	RCBTB2	.	nonsynonymous SNV	RCBTB2:NM_001286831:exon7:c.T781A:p.S261T,RCBTB2:NM_001352429:exon7:c.T865A:p.S289T,RCBTB2:NM_001352426:exon8:c.T781A:p.S261T,RCBTB2:NM_001286830:exon9:c.T868A:p.S290T,RCBTB2:NM_001352424:exon9:c.T853A:p.S285T,RCBTB2:NM_001352425:exon9:c.T853A:p.S285T,RCBTB2:NM_001268:exon10:c.T853A:p.S285T	.	429	1091	2	0	0	2	0.000915751	.	.	.	4054573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0863565206993	.	.	9.885e-05	0	0	0	0	0.0001	0	0.0003	9.06e-05	14	154602	rs754541097	6.43e-05	6.43e-05	5.581e-05	7.288e-05	0.0005	5.361e-05	4.976e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0005	4.586e-05	0.0001	0.0004	3.286e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.52	0.07259	T	0.233	0.24913	T	0.08	0.24543	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.695	0.17993	N	-1.85	0.84267	D	-1.12	0.28906	N	0.337	0.38746	-0.3158	0.74540	T	0.479	0.80058	T	10	0.21218193	0.37670	T	0.086357	0.74721	D	0.294	0.61388	.	.	0.941507651443	0.94089	0.5500566912175751	0.54931	0.51541283519	0.49451	0.764470458031	0.76596	T	0.26366	0.63536	T	-0.191879	0.21983	T	-0.221248	0.52616	T	0.142032414674759	0.16449	T	0.49565	0.15376	T	0.2823745	0.51275	0.25156388	0.50770	0.2823745	0.51275	0.25156388	0.50769	-3.102	0.11319	T	.	.	0.088	0.15430	B	.;.;.	.;.;.	2.636524	0.34295	19.59	0.99058593552392826	0.51436	0.95114	0.63489	D	AEFGBI	0.677641	0.64228	D	-0.00364344692250884	0.41689	2.498226	0.193341769443658	0.49482	3.15077	0.999999997539423	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	5.930000	0.69823	9.355000	0.80329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.152	0.81441	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	582.33	34	chr13	48510702	.	A	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=674;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.736;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr13	48706857	48706857	G	A	exonic	CYSLTR2	.	nonsynonymous SNV	CYSLTR2:NM_001308471:exon2:c.G40A:p.V14I,CYSLTR2:NM_001308470:exon3:c.G40A:p.V14I,CYSLTR2:NM_001308468:exon4:c.G40A:p.V14I,CYSLTR2:NM_001308469:exon4:c.G40A:p.V14I,CYSLTR2:NM_001308476:exon5:c.G40A:p.V14I,CYSLTR2:NM_020377:exon5:c.G40A:p.V14I,CYSLTR2:NM_001308465:exon6:c.G40A:p.V14I,CYSLTR2:NM_001308467:exon6:c.G40A:p.V14I	.	.	.	.	.	.	.	.	.	.	.	2733093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.0104299160182	.	.	4.127e-05	0	0	0.0001	0	6.001e-05	0	0	3.88e-05	6	154602	rs200402832	5.678e-05	5.678e-05	5.854e-05	5.501e-05	6.026e-05	4.677e-05	4.302e-05	4.813e-05	4.424e-05	0	2.237e-05	0.0003	0	0	0	6.026e-05	6.624e-05	4.638e-05	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	6.816e-05	2.853e-05	0	0	0	0	0.0004	0	0	5.88e-05	0	0	0.797	0.03142	T	0.613	0.07617	T	0.0	0.02946	B	0.0	0.01387	B	0.004157	0.01007	N	3.848550	1	0.08975	N	0	0.06538	N	-0.45	0.69896	T	-0.01	0.07155	N	0.017	0.00308	-1.0180	0.24366	T	0.087	0.33690	T	10	0.025885582	0.03944	T	0.01043	0.26958	T	0.098	0.28162	0.157	0.06070	0.33440975612	0.33058	0.03960278222268517	0.03906	0.0966914335435	0.10917	0.217327803373	0.01161	T	0.023889	0.18153	T	-0.420976	0.01686	T	-0.656576	0.08500	T	0.0489316321909428	0.05311	T	0.212979	0.02609	T	0.024586847	0.01305	0.019741124	0.00102	0.024586847	0.01305	0.019741124	0.00102	-3.51	0.16572	T	.	.	0.075	0.05623	B	.;.;.;.;.	.;.;.;.;.	-2.416155	0.00039	0.001	0.58919049974659454	0.06103	0.00492	0.02329	N	AEFI	0.020753	0.00852	N	-2.10959805317003	0.00122	0.005219632	-2.17660982253239	0.00126	0.005550727	0.999999999800726	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	-12.2	0.00004	-1.403000	0.02603	-3.219000	0.02960	-2.564000	0.00244	0.000000	0.06391	0.000000	0.08366	0.097000	0.18139	0.2533:0.1633:0.3424:0.241	1.607	0.02525	705	0.57330	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1226.33	33	chr13	48706857	.	G	A	1226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=722;ExcessHet=0;FS=2.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.488;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	18	0	1	0
chr13	49485640	49485640	C	G	exonic	SETDB2;SETDB2-PHF11	.	nonsynonymous SNV	SETDB2:NM_001160308:exon11:c.C1493G:p.S498C,SETDB2:NM_001320699:exon11:c.C1493G:p.S498C,SETDB2-PHF11:NM_001320727:exon11:c.C1493G:p.S498C,SETDB2:NM_031915:exon12:c.C1529G:p.S510C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0209774847906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.229	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.054555	0.22716	N	0.466770	0.99968	0.21260	N	1.61	0.41143	L	1.09	0.39223	T	-1.66	0.39692	N	0.144	0.14763	-0.4844	0.69209	T	0.463	0.79229	T	10	0.13078037	0.24890	T	0.020977	0.43675	T	0.133	0.36157	0.455	0.51938	0.441740949975	0.43797	0.26286976845630533	0.26199	0.263391581007	0.28895	0.349639594555	0.17869	T	0.034644	0.23401	T	-0.175251	0.24445	T	-0.489513	0.23443	T	0.279888302087784	0.24167	T	0.614539	0.23442	T	0.065997645	0.14159	0.053382266	0.08982	0.065997645	0.14158	0.053382266	0.08982	-4.379	0.29367	T	.	.	0.087	0.17103	B	.;.;.;.	.;.;.;.	2.782052	0.36545	20.3	0.79928074874745014	0.12965	0.53734	0.29444	D	AEFBCI	0.077768	0.15674	N	-0.298437769804934	0.29209	1.617773	-0.177092279534759	0.32381	1.841664	0.999366627123561	0.39301	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.88	4.02	0.45968	1.977000	0.40211	2.610000	0.33572	0.599000	0.40250	0.588000	0.27650	1.000000	0.68203	0.978000	0.57271	0.0:0.797:0.203:0.0	10.675	0.44976	830	0.39242	SET domain|SET domain|SET domain;SET domain;.;SET domain|SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1255.33	33	chr13	49485640	.	C	G	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=707;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.803;SOR=0.558	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X	.	416	1056	49	1	0	51	0.0235784	.	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.005051	0.017663	0.014620	0.000000	0.017241	0.027439	0.018939	0.02632	2393.33	39	chr13	49630893	.	G	A	2393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=823;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=1.09;SOR=1.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr13	50930688	50930688	C	G	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon4:c.C250G:p.L84V,RNASEH2B:NM_024570:exon4:c.C250G:p.L84V	Aicardi-Goutieres syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	840978	Aicardi-Goutieres_syndrome_2|not_provided	MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0790588722529	7.7e-05	.	6.591e-05	0	0	0	0	1.498e-05	0.0011	0.0004	5.17e-05	8	154602	rs143523027	4.592e-05	4.72e-05	4.502e-05	4.683e-05	0.0002	3.669e-05	3.354e-05	0.0001	0.0001	0	0	0	0	0	0.0002	3.605e-05	0.0001	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.31383	T	0.252	0.40586	T	0.844	0.46645	P	0.216	0.37572	B	0.083336	0.20759	N	0.470450	0.991509	0.24024	N	2.2	0.62015	M	-3.94	0.96143	D	-0.54	0.16598	N	0.376	0.42931	0.026	0.82767	D	0.730	0.90773	D	10	0.19523409	0.35367	T	0.079059	0.73148	D	0.280	0.59740	.	.	0.865996763586	0.86470	0.16009631792008464	0.15930	0.058426066351	0.06474	0.287450999022	0.08552	T	0.422974	0.77388	T	-0.158027	0.27064	T	-0.136811	0.60393	T	0.0843002608043102	0.10528	T	0.940906	0.80515	D	0.13705209	0.31748	0.10698687	0.25747	0.11146203	0.26339	0.10083991	0.24122	-4.335	0.28664	T	0.244375938760566	0.33100	0.085	0.18331	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.981846	0.39779	21.0	0.9806932357617002	0.38015	0.92619	0.56139	D	AEFBI	0.299418	0.40848	N	-0.06400350366761	0.38979	2.291414	0.0148613121829884	0.40404	2.410738	0.999930374835286	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	4.48	0.53973	3.289000	0.51454	4.915000	0.45989	-0.217000	0.08171	0.997000	0.40164	1.000000	0.68203	0.957000	0.51019	0.0:0.8432:0.1568:0.0	13.463	0.60692	833	0.38804	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	498.33	34	chr13	50930688	.	C	G	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.661;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr13	51727773	51727773	C	G	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon6:c.C581G:p.T194R	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0313557494487	0.0014	0.000199681	0.0008	9.681e-05	0.0002	0	0.0023	0.0011	0.0044	6.087e-05	0.0007827	121	154602	rs143029510	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0009	0.0010	0.0010	0.0001	0.0002	0.0012	0	0.0026	0.0016	0.0011	0.0005	3.478e-05	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0001	0	0.0003	0.0017	0	0.0017	0	0.0011	0.0005	0	0.004	0.65419	D	0.072	0.43344	T	0.153	0.28093	B	0.165	0.35019	B	0.000003	0.62929	D	0.137255	0.999991	0.58761	D	1.33	0.33268	L	0.01	0.62459	T	-4.38	0.77143	D	0.548	0.57433	-0.5539	0.66638	T	0.258	0.62900	T	10	0.031027019	0.01233	T	0.031356	0.53460	D	0.393	0.70844	.	.	0.750422274658	0.74816	0.3843780779122715	0.38352	1.09616180207	0.77583	0.606051921844	0.53759	T	0.135126	0.46676	T	-0.224401	0.17396	T	-0.108343	0.62743	T	0.12059071483831	0.14488	T	0.933007	0.74900	D	0.591797	0.72249	0.5602826	0.74559	0.591797	0.72250	0.5602826	0.74560	-12.003	0.84866	D	.	.	0.351	0.56670	A	.	.	3.876470	0.56312	23.7	0.98963745672370707	0.49383	0.94500	0.61366	D	AEFDBCI	0.774868	0.70845	D	0.169363057234123	0.49730	3.170289	0.214697907535015	0.50662	3.256	0.999999999053562	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.65	4.79	0.60909	7.520000	0.80737	5.989000	0.52298	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.991000	0.66497	0.0:0.8619:0.1381:0.0	15.569	0.76065	912	0.21483	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1206.33	41	chr13	51727773	.	C	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.646;DP=721;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.906;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1311	18	0	1	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.035354	0.019022	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2562.33	36	chr13	51739117	.	G	A	2562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=814;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.682;SOR=0.842	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr13	51942395	51942395	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon11:c.G2782A:p.A928T,ATP7B:NM_001330579:exon13:c.G3151A:p.A1051T,ATP7B:NM_001330578:exon14:c.G3169A:p.A1057T,ATP7B:NM_000053:exon15:c.G3403A:p.A1135T,ATP7B:NM_001243182:exon16:c.G3070A:p.A1024T	Wilson disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	527795	not_specified|not_provided|Wilson_disease	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.167	.	0.0003	0.00199681	0.0052	0	0	0	0.0534	0.0038	0.0178	6.056e-05	0.0040491	626	154602	rs187200982	0.0025	0.0025	0.0025	0.0025	0.0005	0.0024	0.0024	0.0005	0.0004	2.987e-05	0	3.826e-05	0.0002	0.0548	0.0002	0.0005	0.0029	0.0003	0.0047	0.0047	0.0027	0.0067	0.0014	0.0044	0.0043	0.0012	0.0011	2.407e-05	0	6.54e-05	0	0.0002	0.0573	0	0.0014	0.0024	0.0002	0.603	0.05790	T	0.602	0.07894	T	0.0	0.20130	B	0.001	0.25278	B	0.082095	0.02365	N	1.843910	1	0.08975	N	0.135	0.08676	N	-3.89	0.97242	D	0.19	0.10833	N	0.115	0.10911	0.156	0.85159	D	0.605	0.85979	D	10	0.0021025836	0.00030	T	.	.	.	0.167	0.42761	.	.	0.654553869521	0.65167	0.47490297824234395	0.47409	0.0575941359263	0.06381	0.227259367704	0.01772	T	0.518598	0.83122	D	-0.413832	0.01875	T	-0.365851	0.37374	T	0.0128227865966227	0.00218	T	0.446455	0.16784	T	0.025658986	0.01529	0.04060221	0.04426	0.021958072	0.00827	0.031772524	0.01813	-3.753	0.20104	T	0.07758475157762715	0.03649	0.066	0.02257	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.458612	0.00321	0.005	0.52879314227800156	0.04832	0.00604	0.02691	N	AEFDBI	0.040556	0.06048	N	-1.65924043187841	0.00997	0.04320475	-1.72038946912443	0.01050	0.04712847	0.998683987135627	0.37455	0.615465	0.37627	0	0.563428	0.19063	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	5.15	-6.84	0.01527	-2.972000	0.00732	-20.000000	0.00162	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.097:0.1281:0.1048:0.6702	6.930	0.23617	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	rs187200982	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2842.83	34	chr13	51942395	.	C	T	2842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.575;DP=849;ExcessHet=0.119;FS=3.584;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=2.15;SOR=0.507	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1620,0,1505	17	0	2	0
chr13	51950017	51950017	T	C	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon8:c.A2234G:p.Q745R,ATP7B:NM_001330579:exon9:c.A2468G:p.Q823R,ATP7B:NM_001330578:exon10:c.A2486G:p.Q829R,ATP7B:NM_000053:exon11:c.A2720G:p.Q907R,ATP7B:NM_001243182:exon12:c.A2387G:p.Q796R	Wilson disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1892266	Wilson_disease	MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.906	0.666232709841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	-2.76	0.90848	D	-3.68	0.70314	D	0.859	0.85554	0.950	0.96396	D	0.869	0.95640	D	10	0.9642396	0.95877	D	0.666233	0.97206	D	0.906	0.97436	0.833	0.94168	0.983135688421	0.98294	0.8721428718385182	0.87180	0.377055545769	0.39141	0.777239918709	0.78512	T	0.912285	0.98358	D	0.438938	0.91970	D	0.392727	0.91871	D	0.992934226989746	0.83554	D	0.968203	0.92669	D	0.9533338	0.96605	0.9170375	0.96189	0.9533338	0.96605	0.9170375	0.96189	-13.021	0.89451	D	0.7551953780005498	0.83719	0.867	0.85936	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.417177	0.68379	25.2	0.99537424974376809	0.70274	0.97978	0.78588	D	AEFDBI	0.937174	0.93456	D	0.724379479852808	0.81230	7.473862	0.731495061575251	0.84771	8.385505	0.999999999999996	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.73	5.73	0.89730	7.930000	0.87066	7.805000	0.69260	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.013	0.80214	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1458.33	35	chr13	51950017	.	T	C	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=763;ExcessHet=0;FS=4.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.765;SOR=1.185	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1472,0,1032	18	0	1	0
chr13	52135824	52135824	T	A	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon13:c.A1163T:p.K388M,NEK3:NM_002498:exon14:c.A1214T:p.K405M,NEK3:NM_152720:exon14:c.A1214T:p.K405M	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0231157293941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000014	0.62929	D	0.149020	0.70393	0.30077	N	2.76	0.80626	M	.	.	.	.	.	.	0.435	0.48504	-0.0643	0.80902	T	0.539	0.82965	D	10	0.52444464	0.62828	D	0.023116	0.46062	T	.	.	.	.	0.391000631824	0.38715	0.552179138133198	0.55143	.	.	0.415255129337	0.27183	T	0.061775	0.31743	T	-0.0010328	0.51512	T	-0.23926	0.50871	T	0.956467071410308	0.64763	D	0.850615	0.56452	D	0.12704182	0.29739	0.10138486	0.24268	0.12704182	0.29739	0.10138486	0.24267	-5.587	0.45435	T	.	.	0.349	0.56514	A	.;.;.;.	.;.;.;.	3.544833	0.49806	22.8	0.99503388059387932	0.68147	0.86873	0.46251	D	AEFBI	0.225509	0.34959	N	0.272349445166862	0.54752	3.640055	0.157560897882457	0.47544	2.983048	0.839878502930899	0.24847	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	1.46	0.21769	1.253000	0.32488	2.202000	0.31296	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.0:0.2239:0.0:0.7761	8.712	0.33552	726	0.54788	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	50	chr13	52135824	.	T	A	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=866;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.791;SOR=0.735	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr13	52152637	52152637	C	T	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.G365A:p.R122H,NEK3:NM_002498:exon5:c.G365A:p.R122H,NEK3:NM_152720:exon5:c.G365A:p.R122H	.	440	1068	14	0	0	14	0.00651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0049	0.00319489	0.0058	0.0007	0.0028	0	0.0138	0.0072	0.0123	0.0047	0.0057244	885	154602	rs56190615	0.0071	0.0071	0.0071	0.0070	0.0077	0.0069	0.0069	0.0076	0.0075	0.0011	0.0025	0.0067	0	0.0121	0.0054	0.0077	0.0056	0.0043	0.0053	0.0054	0.0051	0.0056	0.0079	0.0050	0.0049	0.0073	0.0071	0.0011	0.0077	0.0017	0.0049	0	0.0138	0	0.0079	0.0052	0.0056	.	.	.	0.083	0.41573	T	0.174	0.28827	B	0.12	0.32230	B	0.000020	0.62929	N	0.106321	0.986903	0.40504	D	0.99	0.25021	L	.	.	.	.	.	.	0.31	0.34981	-1.1054	0.03497	T	0.066	0.27364	T	9	0.0071119964	0.00162	T	.	.	.	.	.	.	.	0.301122078929	0.29733	0.6005547578607336	0.59986	.	.	0.352899193764	0.18348	T	0.028139	0.20449	T	-0.483117	0.00710	T	-0.458779	0.26733	T	0.00982522262738981	0.00129	T	0.90091	0.65583	D	0.15741523	0.35472	0.16099524	0.37470	0.15741523	0.35471	0.16099524	0.37469	-6.703	0.52103	T	.	.	0.106	0.19760	B	.;.;.;.	.;.;.;.	2.956093	0.39350	20.9	0.99469964767437413	0.66259	0.92328	0.55458	D	AEFBI	0.238146	0.36032	N	-0.1827731929665	0.33853	1.925322	-0.0964778788700825	0.35534	2.057041	0.426534050801065	0.20335	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	4.1	0.47196	1.435000	0.34578	0.507000	0.19047	0.580000	0.29708	0.491000	0.26886	0.991000	0.31484	0.892000	0.42986	0.0:0.849:0.0:0.151	11.732	0.51009	718	0.55760	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	SUGT1	Esophagus_Mucosa	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.017241	0.009146	0.007576	0.02632	1122.33	36	chr13	52152637	.	C	T	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.772;DP=770;ExcessHet=0;FS=2.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.928;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1136,0,1001	18	0	1	0
chr13	52152646	52152646	T	C	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.A356G:p.H119R,NEK3:NM_002498:exon5:c.A356G:p.H119R,NEK3:NM_152720:exon5:c.A356G:p.H119R	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.061701922285	.	0.000998403	0.0005	0	8.691e-05	0.0061	0	3.017e-05	0	0	0.0003881	60	154602	rs141399003	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.255e-05	0	0.0037	0	0	3.241e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	0	0	6.539e-05	0	0.0050	0	0	0	0	0	.	.	.	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.135	0.88152	M	.	.	.	.	.	.	0.98	0.99100	0.545	0.91170	D	0.699	0.89627	D	9	0.109850705	0.20508	T	0.061702	0.68417	D	.	.	.	.	0.429091045357	0.42525	0.9404636316206417	0.94027	.	.	0.671794116497	0.63094	T	0.190065	0.54449	T	-0.0409546	0.45805	T	0.171563	0.81503	D	0.237147584444888	0.22288	T	0.911709	0.72041	D	0.4568961	0.64478	0.44854242	0.67895	0.4568961	0.64479	0.44854242	0.67896	-12.378	0.86643	D	.	.	0.878	0.86484	P	.;.;.;.	.;.;.;.	4.557084	0.71774	25.7	0.99789044923107628	0.87484	0.98829	0.87402	D	AEFBI	0.864959	0.78390	D	0.743340063600151	0.82468	7.770603	0.755013363101041	0.86531	8.919167	0.999999395334807	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	7.663000	0.64347	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.370	0.83187	718	0.55760	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	996.33	36	chr13	52152646	.	T	C	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=761;ExcessHet=0;FS=6.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.568;SOR=1.169	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr13	52377916	52377916	G	T	exonic	THSD1	.	nonsynonymous SNV	THSD1:NM_199263:exon4:c.C1895A:p.T632K,THSD1:NM_018676:exon5:c.C2054A:p.T685K	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	0.00599042	0.0039	9.739e-05	0	0.0001	0	7.53e-05	0.0033	0.0283	0.0033699	521	154602	rs543365030	0.0017	0.0017	0.0009	0.0024	0.0263	0.0016	0.0016	0.0254	0.0251	5.974e-05	2.236e-05	0	0	0	0.0009	5.126e-05	0.0015	0.0263	0.0009	0.0009	0.0004	0.0013	0.0263	0.0007	0.0007	0.0226	0.0212	0	0	6.539e-05	0	0.0002	0	0	2.94e-05	0	0.0263	0.011	0.58626	D	0.121	0.38742	T	0.493	0.51088	P	0.224	0.45556	B	0.325349	0.14203	N	0.703788	1	0.08975	N	2.38	0.68558	M	2.18	0.18875	T	-3.3	0.65858	D	0.288	0.32591	-1.0382	0.17863	T	0.071	0.29066	T	10	0.0026299953	0.00040	T	.	.	.	0.077	0.22490	0.185	0.09388	0.0611884634855	0.05136	0.4238316922896501	0.42300	0.453056790591	0.45006	0.292236566544	0.09249	T	0.036144	0.23993	T	-0.565047	0.00237	T	-0.563477	0.16052	T	0.0872365707993417	0.10886	T	0.789521	0.42989	T	0.057529505	0.11460	0.064823106	0.13050	0.05780061	0.11549	0.06185092	0.12010	-4.87	0.36546	T	0.2657739071670723	0.35827	0.132	0.40424	B	.;.;.	.;.;.	1.024865	0.14044	10.61	0.78021706370412136	0.12122	0.15364	0.18875	N	AEFDBI	0.116824	0.22913	N	-0.724640943922878	0.15331	0.7716644	-0.895889860652703	0.12191	0.6256602	0.0347298754959997	0.14167	0.706548	0.73137	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.02	-1.13	0.09274	1.301000	0.33052	3.678000	0.39458	-0.717000	0.03845	0.015000	0.19116	0.513000	0.25267	0.002000	0.04165	0.1175:0.1143:0.7682:0.0	7.418	0.26227	783	0.47268	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2035.33	33	chr13	52377916	.	G	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=812;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.867;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr13	52642567	52642567	A	-	exonic	HNRNPA1L2	.	frameshift deletion	HNRNPA1L2:NM_001011725:exon6:c.75delA:p.T26Lfs*5,HNRNPA1L2:NM_001011724:exon7:c.75delA:p.T26Lfs*5	.	461	1031	25	5	0	35	0.0166905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113	0.0101837	0.0059	0.0173	0.0032	0	0.0023	0.0030	0.0099	0.0173	0.0005763	15	26028	rs374312718	0.0037	0.0037	0.0032	0.0043	0.0189	0.0037	0.0036	0.0172	0.0168	0.0184	0.0036	0.0052	2.519e-05	0.0027	0.0189	0.0023	0.0051	0.0174	0.0074	0.0074	0.0073	0.0075	0.0171	0.0070	0.0069	0.0161	0.0157	0.0171	0	0.0052	0.0058	0	0.0018	0.0068	0.0031	0.0071	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018519	0.015625	0.030220	0.012931	0.000000	0.017544	0.011364	0.004098	0.02632	496.29	33	chr13	52642566	.	CA	C	496.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.621;DP=630;ExcessHet=0;FS=9.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.89;MQRankSum=0.21;QD=11.82;ReadPosRankSum=-0.731;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1081	18	0	1	0
chr13	52643109	52643109	G	A	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.G617A:p.R206H,HNRNPA1L2:NM_001011724:exon7:c.G617A:p.R206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00669249874089	.	0.000199681	0.0001	0	0	0	0	4.817e-05	0.0012	0.0008	0.0001164	18	154602	rs548762543	6.295e-05	6.499e-05	3.306e-05	9.311e-05	0.0008	5.219e-05	4.834e-05	0.0006	0.0006	0.0001	2.237e-05	3.827e-05	5.038e-05	0	0	9.894e-06	8.312e-05	0.0008	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.812e-05	0	6.534e-05	0	0	0	0	0	0	0.0004	0.2	0.20381	T	0.496	0.11335	T	0.684	0.41517	P	0.018	0.18489	B	.	.	.	.	1	0.08975	N	0.965	0.23975	L	-2.03	0.85613	D	-0.32	0.12283	N	0.168	0.17828	-0.8458	0.52256	T	0.215	0.57705	T	9	0.031853735	0.01326	T	0.006692	0.17671	T	0.206	0.49396	0.528	0.63412	0.399449838166	0.39556	0.37983542677386	0.37898	.	.	0.665757596493	0.62233	T	0.023768	0.18084	T	-0.336158	0.05658	T	-0.356481	0.38461	T	0.0188652581937957	0.00597	T	0.165783	0.01535	T	0.014685242	0.00103	0.028942801	0.01180	0.014685242	0.00103	0.028942801	0.01180	-7.723	0.59167	D	.	.	0.128	0.27192	B	.	.	1.330041	0.17353	13.11	0.25888782320542353	0.01215	0.01189	0.04253	N	AEFBI	0.021245	0.00925	N	-0.874809300367698	0.11444	0.5522998	-0.944506829382682	0.11051	0.5606066	0.734507681748416	0.23107	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.352	0.352	0.15287	-0.024000	0.12382	-1.387000	0.05559	0.181000	0.17804	0.000000	0.06391	0.000000	0.08366	0.408000	0.26961	0.4:0.0:0.6:0.0	2.861	0.05244	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000534	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1004.33	72	chr13	52643109	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=1028;ExcessHet=0;FS=4.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-1.202;QD=15.22;ReadPosRankSum=-1.454;SOR=1.329	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr13	52643274	52643274	A	G	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.A782G:p.N261S,HNRNPA1L2:NM_001011724:exon7:c.A782G:p.N261S	.	433	1058	27	4	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0077	.	0.0059	0.0162	0.0032	0	0.0023	0.0030	0.0107	0.0174	0.0013063	34	26028	rs342775	0.0037	0.0037	0.0032	0.0042	0.0179	0.0036	0.0036	0.0166	0.0163	0.0177	0.0036	0.0052	2.521e-05	0.0022	0.0179	0.0023	0.0051	0.0174	0.0073	0.0073	0.0072	0.0074	0.0167	0.0069	0.0068	0.0156	0.0152	0.0167	0	0.0052	0.0058	0	0.0018	0.0068	0.0032	0.0071	0.0145	0.034	0.44029	D	0.236	0.24694	T	0.707	0.42016	P	0.213	0.37437	B	.	.	.	.	0.993661	0.23670	N	1.635	0.41844	L	-2.2	0.86888	D	-2.85	0.60029	D	0.143	0.14338	-0.7107	0.59918	T	0.198	0.55286	T	9	0.006439775	0.00146	T	.	.	.	0.242	0.54781	.	.	0.515828161817	0.51224	0.8268350392294082	0.82641	.	.	0.648876965046	0.59827	T	0.02239	0.17269	T	-0.464508	0.00921	T	-0.426385	0.30345	T	0.0383935870855039	0.03402	T	0.779722	0.41422	T	0.047855284	0.08248	0.081999235	0.18680	0.047855284	0.08247	0.081999235	0.18679	-7.064	0.54500	T	.	.	0.064	0.01738	B	.	.	1.317504	0.17209	13.03	0.78058276187797782	0.12138	0.50040	0.28571	D	AEFBI	0.156216	0.28153	N	-0.436778897230713	0.24191	1.304441	-0.535110755619253	0.21202	1.145867	0.833319217850346	0.24732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	0.352	0.352	0.15287	2.062000	0.41039	0.322000	0.17195	0.198000	0.17903	1.000000	0.71638	0.116000	0.22850	0.676000	0.33425	0.9998:0.0:2.0E-4:0.0	5.098	0.14079	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017354	0.021053	0.029973	0.012295	0.000000	0.008621	0.003226	0.003937	0.02632	451.33	34	chr13	52643274	.	A	G	451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.529;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.52;MQRankSum=0.732;QD=11.01;ReadPosRankSum=-0.705;SOR=0.784	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr13	52666823	52666823	G	T	exonic	SUGT1	.	nonsynonymous SNV	SUGT1:NM_006704:exon10:c.G531T:p.L177F,SUGT1:NM_001130912:exon11:c.G627T:p.L209F,SUGT1:NM_001320831:exon11:c.G363T:p.L121F	.	551	963	8	0	0	8	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00576076264561	0.0035	0.000798722	0.0025	0.0006	0.0010	0	0.0002	0.0029	0.0011	0.0056	0.0025291	391	154602	rs61756205	0.0033	0.0034	0.0032	0.0034	0.0061	0.0033	0.0032	0.0057	0.0055	0.0005	0.0014	0.0026	2.531e-05	7.497e-05	0.0051	0.0035	0.0039	0.0061	0.0022	0.0022	0.0024	0.0020	0.0062	0.0020	0.0019	0.0045	0.0039	0.0005	0	0.0010	0.0032	0.0004	9.445e-05	0	0.0038	0.0009	0.0062	0.057	0.37966	T	0.05	0.48080	T	0.619	0.39896	P	0.56	0.49558	P	0.592256	0.05599	N	1.188910	0.958196	0.38063	D	.	.	.	2.6	0.13204	T	-1.25	0.32185	N	0.253	0.28849	-1.0792	0.07504	T	0.037	0.15899	T	10	0.009181619	0.00207	T	0.005761	0.14952	T	0.062	0.17934	0.476	0.55342	0.286597616719	0.28274	0.21078365366090696	0.20994	0.247179053754	0.27258	0.264652371407	0.05457	T	0.042866	0.26319	T	-0.569865	0.00222	T	-0.58832	0.13810	T	0.0078939103063255	0.00093	T	0.886111	0.61235	D	0.09944877	0.23471	0.10406746	0.24986	0.09944877	0.23471	0.10406746	0.24985	-3.999	0.26112	T	.	.	0.078	0.06756	B	.;.	.;.	2.450495	0.31553	18.78	0.99845688687991452	0.92576	0.76444	0.37492	D	AEFDBI	0.150325	0.27460	N	-0.108227706341432	0.37034	2.148884	-0.0231716745570974	0.38671	2.281653	0.946194921208954	0.27695	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.42	0.38259	0.381000	0.20348	4.484000	0.43545	0.676000	0.76740	0.689000	0.28522	1.000000	0.68203	0.999000	0.91618	0.2101:0.0:0.6586:0.1312	6.131	0.19426	356	0.85138	CS domain|CS domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.015152	0.02632	443.33	34	chr13	52666823	.	G	T	443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=653;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.05;SOR=1.27	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	18	0	1	0
chr13	61413630	61413630	C	T	exonic	PCDH20	.	nonsynonymous SNV	PCDH20:NM_022843:exon2:c.G469A:p.G157S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0114299058439	7.7e-05	0.00159744	0.0004	0	8.697e-05	0	0	3.013e-05	0	0.0030	0.0003946	61	154602	rs376715154	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0022	0.0021	2.987e-05	0.0002	3.826e-05	0	0	0.0019	7.104e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0.0007	0	0	0	0	2.94e-05	0	0.0033	0.17	0.22833	T	0.542	0.09690	T	.	.	.	.	.	.	0.000545	0.43413	D	0.100126	0.883106	0.28014	N	0.37	0.12060	N	0.63	0.53088	T	-0.14	0.09135	N	0.107	0.10911	-1.0498	0.14453	T	0.063	0.26101	T	10	0.0037433505	0.00070	T	0.01143	0.29047	T	0.067	0.19503	.	.	0.168254554758	0.16434	0.35697522037304463	0.35611	0.212277476401	0.23727	0.375601530075	0.21632	T	0.011012	0.09882	T	-0.496145	0.00601	T	-0.489446	0.23450	T	0.049635823816061	0.05435	T	0.707729	0.31835	T	0.040560924	0.05814	0.14881186	0.35161	0.040560924	0.05813	0.14881186	0.35161	-3.709	0.19451	T	.	.	0.070	0.03625	B	.;.	.;.	2.097005	0.26679	17.20	0.98755823923095454	0.45739	0.26337	0.22964	N	AEFDBI	0.236826	0.35921	N	-0.797721088114463	0.13369	0.6581196	-0.638656170590274	0.18504	0.9887562	0.998577031535849	0.37226	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.65	4.81	0.61401	1.254000	0.32500	3.347000	0.37754	-0.178000	0.10482	0.002000	0.15269	0.945000	0.28875	0.435000	0.27561	0.0:0.8512:0.0:0.1488	10.969	0.46640	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1973.33	69	chr13	61413630	.	C	T	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.999;DP=1389;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.531;SOR=0.54	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/0:89,27:127:13:0,13,1627	6	0	13	0
chr13	72753782	72753783	AT	-	exonic	BORA	.	stopgain	BORA:NM_001366664:exon9:c.1422_1423del:p.C475*,BORA:NM_001286747:exon10:c.1365_1366del:p.C456*,BORA:NM_001286746:exon11:c.1575_1576del:p.C526*,BORA:NM_024808:exon11:c.1575_1576del:p.C526*	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0003	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs774725351	8.829e-05	8.824e-05	7.9e-05	9.768e-05	0.0004	7.559e-05	7.105e-05	0.0003	0.0002	8.969e-05	0.0004	0	0.0002	1.872e-05	0.0003	6.388e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0001	0.0009	0.0007	7.227e-05	0	0.0013	0	0	0	0.0034	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2205.29	35	chr13	72753781	.	CAT	C	2205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.09;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.28;ReadPosRankSum=0.181;SOR=0.679	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1173	18	0	1	0
chr13	73059530	73059530	C	A	exonic	KLF5	.	nonsynonymous SNV	KLF5:NM_001730:exon1:c.C203A:p.P68Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0275329614885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.750654	0.09703	N	0.845315	1	0.18612	N	1.59	0.40313	L	3.18	0.07478	T	0.21	0.04776	N	0.181	0.19593	-0.9525	0.40538	T	0.013	0.04890	T	10	0.09219831	0.16214	T	0.027533	0.50329	D	0.069	0.20116	0.154	0.05752	0.215239754934	0.21150	0.18829063812302121	0.18747	0.205374424168	0.22959	0.829085588455	0.86422	D	0.13522	0.46690	T	-0.245632	0.14638	T	-0.59061	0.13612	T	0.0876852199435234	0.10940	T	0.50475	0.15921	T	0.06705457	0.14484	0.13157216	0.31591	0.06705457	0.14483	0.13157216	0.31590	-4.007	0.23909	T	.	.	0.117	0.23640	B	.	.	1.032062	0.14123	10.69	0.77807251804441024	0.12030	0.04139	0.09622	N	AEFDGBHCI	0.075821	0.15237	N	-0.823119004922347	0.12721	0.6218795	-0.754556929450829	0.15610	0.8218627	0.999999999999719	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	3.5	1.52	0.22158	0.172000	0.16518	2.061000	0.30394	0.448000	0.21234	0.002000	0.15269	0.999000	0.35428	0.017000	0.10941	0.1591:0.5726:0.2683:0.0	7.276	0.25460	936	0.14734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.63	4	chr13	73059530	.	C	A	61.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=178;ExcessHet=0;FS=0;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,268:.	18	0	1	0
chr13	73059545	73059545	C	A	exonic	KLF5	.	nonsynonymous SNV	KLF5:NM_001730:exon1:c.C218A:p.P73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.159078615875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.754e-07	4.104e-06	0	2.046e-06	1.125e-06	0	0	.	.	0	0	0	0	0	0	1.125e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.509	0.10857	T	0.0	0.02946	B	0.002	0.06944	B	0.711091	0.06258	N	1.174730	1	0.81001	D	1.355	0.33814	L	3.16	0.07711	T	0.44	0.03243	N	0.174	0.18649	-0.9873	0.33273	T	0.014	0.05465	T	10	0.083989054	0.14029	T	0.159079	0.83935	D	0.038	0.09825	0.268	0.21576	0.226560886239	0.22246	0.20850867876756843	0.20766	0.775270139995	0.64992	0.807604849339	0.83125	D	0.140636	0.47527	T	-0.299822	0.08675	T	-0.66845	0.07708	T	0.182854071259499	0.19413	T	0.361564	0.08348	T	0.036969382	0.04650	0.065888606	0.13417	0.036969382	0.04650	0.065888606	0.13417	-4.318	0.28428	T	.	.	0.130	0.27939	B	.	.	-0.123382	0.03505	0.661	0.7725465818373789	0.11800	0.22246	0.21681	N	AEFDGBHCI	0.063472	0.12268	N	-1.04951288359877	0.07597	0.3534499	-0.935861442047483	0.11253	0.5720937	0.9999999999997	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.378051	0.06126	2	0.621717	0.48901	0	.	.	4.33	1.32	0.20897	-0.713000	0.05110	0.816000	0.21801	-1.696000	0.00764	0.000000	0.06391	0.998000	0.33993	0.003000	0.05239	0.4771:0.3675:0.1554:0.0	7.326	0.25726	936	0.14734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.64	4	chr13	73059545	.	C	A	61.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.524;DP=167;ExcessHet=0;FS=0;InbreedingCoeff=-0.0425;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:24:.:.:0,24,360:.	18	0	1	0
chr13	75821206	75821206	C	T	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon11:c.C1256T:p.P419L,LMO7:NM_001366636:exon11:c.C1256T:p.P419L,LMO7:NM_015842:exon11:c.C1538T:p.P513L,LMO7:NM_001330583:exon12:c.C1538T:p.P513L,LMO7:NM_001366632:exon12:c.C1538T:p.P513L,LMO7:NM_001366633:exon12:c.C2111T:p.P704L,LMO7:NM_005358:exon13:c.C1391T:p.P464L,LMO7:NM_001306080:exon14:c.C2237T:p.P746L	.	429	1051	35	7	0	49	0.0227801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0030	0.033746	0.0177	0.0056	0.0128	0.0972	0.0170	0.0028	0.0158	0.0498	0.0157501	2435	154602	rs76082815	0.0077	0.0078	0.0065	0.0090	0.0997	0.0076	0.0076	0.0971	0.0961	0.0050	0.0099	0.0032	0.0997	0.0142	0.0070	0.0010	0.0114	0.0473	0.0089	0.0090	0.0071	0.0108	0.0938	0.0085	0.0084	0.0869	0.0842	0.0054	0	0.0081	0.0026	0.0938	0.0142	0	0.0016	0.0095	0.0485	0.275	0.15984	T	0.309	0.24621	T	0.09	0.25173	B	0.006	0.12133	B	0.215918	0.03420	N	1.447430	1	0.08975	N	.	.	.	1.55	0.44065	T	-1.13	0.31170	N	0.029	0.25989	-1.0874	0.05978	T	0.003	0.01092	T	10	0.0019238591	0.00026	T	.	.	.	0.077	0.22490	.	.	.	.	0.06451919686335496	0.06390	0.0586957381805	0.06515	0.265521615744	0.05566	T	0.035418	0.25566	T	-0.627545	0.00099	T	-0.587349	0.13895	T	0.0131551565418412	0.00232	T	0.722228	0.37500	T	.	.	.	.	.	.	.	.	-5.571	0.42526	T	.	.	0.078	0.09530	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.254204	0.16513	12.59	0.51833244581012305	0.04635	0.16757	0.19535	N	AEFBI	0.070274	0.13944	N	-0.732483194023068	0.15114	0.7588375	-0.719587167921893	0.16473	0.8716077	0.998523831812547	0.37129	0.706298	0.61202	0	0.709663	0.81188	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	3.5	0.39181	0.943000	0.28628	0.005000	0.13351	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.8408:0.0:0.1592	12.465	0.55092	915	0.20917	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.002717	0.008772	0.000000	0.000000	0.018293	0.034091	0.05263	1821.83	38	chr13	75821206	.	C	T	1821.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.11;DP=723;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.67;SOR=0.939	GT:AD:DP:GQ:PL	0/1:31,33:64:99:1027,0,778	17	0	2	0
chr13	75840433	75840433	G	C	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon19:c.G2539C:p.D847H,LMO7:NM_001366636:exon19:c.G2539C:p.D847H,LMO7:NM_015842:exon19:c.G2821C:p.D941H,LMO7:NM_001330583:exon20:c.G2821C:p.D941H,LMO7:NM_001366632:exon20:c.G2821C:p.D941H,LMO7:NM_001366633:exon20:c.G3394C:p.D1132H,LMO7:NM_005358:exon21:c.G2674C:p.D892H,LMO7:NM_001306080:exon22:c.G3520C:p.D1174H	.	425	1090	7	0	0	7	0.00320073	.	.	.	3204636	LMO7-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.480	.	.	0.00359425	0.0018	9.658e-05	0.0004	0.0001	0	0	0.0023	0.0130	0.0016041	248	154602	rs534973931	0.0009	0.0009	0.0005	0.0013	0.0140	0.0008	0.0008	0.0134	0.0131	2.987e-05	0	0	2.519e-05	0	0.0016	8.094e-06	0.0010	0.0140	0.0005	0.0005	0.0001	0.0009	0.0147	0.0004	0.0004	0.0120	0.0110	2.407e-05	0	0	0	0.0002	0	0	0	0	0.0147	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.03	0.55439	T	-4.22	0.90178	D	0.952	0.96072	-0.2311	0.76858	T	0.430	0.77232	T	10	0.009250134	0.00209	T	.	.	.	0.540	0.80782	.	.	0.734656905842	0.73229	0.5409036767642961	0.54015	0.390911856538	0.40295	0.541012108326	0.44588	T	0.412845	0.76688	T	-0.0450364	0.45198	T	0.173563	0.81620	D	0.155904498551837	0.17564	T	0.955304	0.98769	D	.	.	.	.	.	.	.	.	-12.778	0.88427	D	.	.	0.766	0.76582	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.266768	0.88433	29.6	0.99655506862747112	0.77568	0.99031	0.90217	D	AEFBI	0.886768	0.81844	D	0.570517423094256	0.71340	5.636009	0.625599772743426	0.76804	6.559067	0.999999999999857	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	5.45	0.79688	7.666000	0.82835	11.698000	0.94457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.663	0.95878	878	0.29785	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	749.33	33	chr13	75840433	.	G	C	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=665;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.031;SOR=0.436	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	18	0	1	0
chr13	77205339	77205339	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon26:c.A3760G:p.I1254V	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0173125764586	.	0.00119808	0.0007	0	0.0002	0	0	0	0.0022	0.0049	0.0005886	91	154602	rs573877665	0.0003	0.0003	0.0001	0.0004	0.0043	0.0002	0.0002	0.0039	0.0038	2.988e-05	0	0	0	0	0	8.994e-07	0.0003	0.0043	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0009	0.0056	0.1	0.30515	T	0.158	0.31629	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	.	.	.	0.66	0.52416	T	-0.63	0.18459	N	0.473	0.50868	-0.6779	0.61469	T	0.238	0.60583	T	10	0.013831377	0.00292	T	0.017313	0.38957	T	0.264	0.57741	0.625	0.76028	0.27064940482	0.26676	.	.	1.12298111815	0.78345	0.737601518631	0.72619	T	.	.	.	-0.392694	0.02584	T	-0.336451	0.40746	T	0.101878949129685	0.12563	T	0.941706	0.78221	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.757254	0.53892	23.4	0.96394839180142766	0.29668	0.97697	0.76485	D	AEFBI	0.825055	0.74482	D	0.271012656077205	0.54684	3.63353	0.273590411129029	0.54003	3.566675	0.999999971976247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.670000	0.82907	6.211000	0.55013	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.254000	0.23365	0.0:0.0:0.0:1.0	14.725	0.68954	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1356.33	34	chr13	77205339	.	T	C	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.632;DP=710;ExcessHet=0;FS=7.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.366;SOR=0.229	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr13	77618018	77618018	A	G	exonic	SCEL	.	nonsynonymous SNV	SCEL:NM_001160706:exon25:c.A1460G:p.N487S,SCEL:NM_003843:exon26:c.A1526G:p.N509S,SCEL:NM_144777:exon27:c.A1586G:p.N529S	.	412	1103	6	1	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00429397487723	0.0032	0.00139776	0.0045	0.0009	0.0010	0	0.0065	0.0063	0.0055	0.0035	0.0045795	708	154602	rs145663548	0.0049	0.0050	0.0050	0.0049	0.0055	0.0048	0.0048	0.0054	0.0054	0.0006	0.0027	0.0011	0	0.0069	0.0035	0.0055	0.0039	0.0031	0.0041	0.0041	0.0044	0.0039	0.0067	0.0039	0.0038	0.0062	0.0060	0.0010	0	0.0038	0.0012	0	0.0049	0	0.0067	0.0024	0.0029	0.025	0.57480	D	0.028	0.56192	D	0.571	0.38591	P	0.163	0.34892	B	0.337008	0.14023	N	0.679388	1	0.08975	N	2.39	0.68882	M	1.46	0.32238	T	-1.37	0.34198	N	0.164	0.17691	-1.0433	0.16324	T	0.056	0.23413	T	10	0.003091246	0.00051	T	0.004294	0.10404	T	0.104	0.29647	.	.	0.224531998449	0.22054	0.45143971070031136	0.45061	0.0467349534079	0.05080	0.327143222094	0.14503	T	0.067987	0.33341	T	-0.633239	0.00091	T	-0.678236	0.07092	T	0.0182409550934166	0.00544	T	0.646135	0.25753	T	0.06605203	0.14177	0.08694028	0.20175	0.06605203	0.14176	0.08694028	0.20175	-4.982	0.36644	T	.	.	0.095	0.14933	B	.;.;.	.;.;.	1.612060	0.20598	14.82	0.920899846336798	0.21439	0.04172	0.09668	N	AEFI	0.045035	0.07317	N	-0.496300644983978	0.22201	1.183811	-0.535518719363126	0.21191	1.145226	0.933631149096815	0.27138	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	1.54	0.22290	1.129000	0.30994	2.940000	0.35661	0.756000	0.94297	0.037000	0.20830	0.169000	0.23327	0.995000	0.73285	0.7322:0.0:0.2678:0.0	7.463	0.26476	259	0.89842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1774.33	75	chr13	77618018	.	A	G	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.707;DP=1811;ExcessHet=0;FS=4.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.118;SOR=0.43	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr13	77698098	77698098	-	GCCGCC	exonic	SLAIN1	.	nonframeshift insertion	SLAIN1:NM_001242868:exon1:c.185_186insGCCGCC:p.P67_A68insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs557214778	2.283e-05	1.848e-05	2.101e-05	2.48e-05	5.207e-05	1.52e-05	1.27e-05	1.398e-05	1.127e-05	5.207e-05	0	0	0	0	0	2.187e-05	5.344e-05	4.387e-05	3.22e-05	2.678e-05	0	6.723e-05	0.0003	1.052e-05	6.07e-06	1.356e-05	6.76e-06	0	0	0	0	0	0	0	5.108e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	284.31	14	chr13	77698098	.	T	TGCCGCC	284.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=290;ExcessHet=0;FS=0;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=2.37;SOR=0.551	GT:AD:DP:GQ:PL	0/0:18,0:18:42:0,42,630	18	0	1	0
chr13	77698400	77698400	G	T	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001242868:exon1:c.G487T:p.G163W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.127909111297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.951605	0.08283	N	0.977000	1	0.81001	D	0.805	0.20218	L	.	.	.	-1.49	0.36385	N	0.396	0.43706	-1.0268	0.21494	T	0.114	0.40672	T	7	0.17253211	0.32032	T	0.127909	0.80978	D	0.064	0.18567	0.206	0.12216	0.043077524339	0.03247	0.23083842492085718	0.22998	.	.	0.900897026062	0.96539	D	0.018187	0.14708	T	-0.0537872	0.43872	T	-0.315038	0.43115	T	0.18932327521826	0.19804	T	0.544846	0.18617	T	0.10902851	0.25777	0.07904426	0.17760	0.10902851	0.25777	0.07904426	0.17759	-7.741	0.59292	D	.	.	0.268	0.50250	B	.;.	.;.	3.361630	0.46415	22.3	0.98404790172089418	0.41105	0.45815	0.27621	N	AEFDBHCIJ	0.324981	0.42670	N	-0.148566166162444	0.35295	2.025524	-0.114730583157251	0.34796	2.005615	0.99999996577964	0.74766	0.495885	0.18260	0	0.298843	0.05288	2	0.519653	0.09787	0	0.554799	0.18163	0	.	.	4.35	2.57	0.29928	1.374000	0.33889	4.197000	0.42443	0.566000	0.28629	0.980000	0.35271	1.000000	0.68203	0.633000	0.32236	0.2183:0.0:0.7817:0.0	6.502	0.21373	136	0.94604	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	566.33	38	chr13	77698400	.	G	T	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=614;ExcessHet=0;FS=12.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-1.55;SOR=0.763	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	18	0	1	0
chr13	80337647	80337647	T	G	exonic	SPRY2	.	nonsynonymous SNV	SPRY2:NM_001318536:exon2:c.A59C:p.D20A,SPRY2:NM_001318537:exon2:c.A59C:p.D20A,SPRY2:NM_001318538:exon2:c.A59C:p.D20A,SPRY2:NM_005842:exon2:c.A59C:p.D20A	.	418	1072	31	1	0	33	0.0151585	.	.	.	3893777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0026	0.00319489	0.0047	0.0003	0.0029	0.0001	0.0085	0.0038	0.01	0.0126	0.0042432	656	154602	rs141331436	0.0039	0.0039	0.0037	0.0042	0.0123	0.0038	0.0038	0.0117	0.0114	0.0002	0.0027	0.0011	2.519e-05	0.0089	0.0087	0.0034	0.0039	0.0123	0.0031	0.0032	0.0028	0.0035	0.0133	0.0029	0.0028	0.0107	0.0097	0.0003	0	0.0034	0.0009	0	0.0087	0.0068	0.0035	0.0047	0.0133	0.613	0.05420	T	0.654	0.06643	T	1.0	0.90584	D	0.992	0.80445	D	0.000592	0.43095	D	0.224168	0.999998	0.58761	D	2.2	0.62015	M	0.56	0.54540	T	-0.78	0.21644	N	0.472	0.50778	-0.6976	0.60553	T	0.254	0.62383	T	10	0.0057548285	0.00128	T	.	.	.	0.161	0.41658	.	.	0.536231820724	0.53273	0.568324904863497	0.56760	1.51082159887	0.87234	0.486366450787	0.36935	T	0.107127	0.41906	T	-0.324056	0.06571	T	-0.227872	0.51978	T	0.0318544857619161	0.02282	T	0.608739	0.23025	T	0.14498861	0.33255	0.11663937	0.28156	0.15470317	0.35002	0.11881217	0.28677	-2.597	0.06481	T	.	.	0.121	0.25133	B	.;.	.;.	4.607949	0.73040	25.9	0.99313600354406661	0.59092	0.96832	0.71180	D	AEFDBCI	0.798340	0.72491	D	0.444224775955597	0.63876	4.630019	0.455208210573323	0.65052	4.775195	0.999999999997623	0.74766	0.542737	0.22433	0	0.586065	0.33999	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.2	5.2	0.71720	4.754000	0.61888	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	15.145	0.72327	837	0.37933	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.005051	0.006793	0.002924	0.000000	0.025862	0.009146	0.030303	0.05263	3951.83	47	chr13	80337647	.	T	G	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=995;ExcessHet=0.119;FS=1.348;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=2.85;SOR=0.611	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr13	85795037	85795037	G	C	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.C1472G:p.T491R	Deafness and myopia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1301308	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.01223739269	0.0002	0.000199681	8.316e-05	0	0	0	0	9.017e-05	0	0.0002	7.12e-05	11	154602	rs368750148	3.012e-05	3.01e-05	2.179e-05	3.852e-05	0.0002	2.283e-05	2.033e-05	7.999e-05	6.237e-05	0	2.242e-05	0.0005	0	0	0.0002	1.44e-05	3.314e-05	0.0001	1.974e-05	1.969e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0.0002	0.014	0.53172	D	0.046	0.49120	D	0.213	0.30041	B	0.129	0.32841	B	0.000060	0.53742	U	0.074880	0.969242	0.38715	D	0.265	0.09922	N	0.52	0.55266	T	-0.13	0.08971	N	0.503	0.53532	-1.0106	0.26729	T	0.074	0.29992	T	10	0.08997515	0.15632	T	0.012237	0.30635	T	0.137	0.36984	.	.	0.73033700423	0.72794	0.4305051493616038	0.42967	0.065577792844	0.07314	0.411857426167	0.26713	T	0.071351	0.34187	T	-0.239376	0.15428	T	-0.321944	0.42362	T	0.0810691057432755	0.10124	T	0.782722	0.41876	T	0.16124848	0.36122	0.27068144	0.52962	0.16124848	0.36121	0.27068144	0.52961	-1.798	0.02503	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	2.215402	0.28270	17.74	0.98130205537269322	0.38514	0.88428	0.48351	D	AEFBI	0.366248	0.45413	N	-0.157690963137104	0.34909	1.998521	0.0580875118004083	0.42465	2.568905	0.281578503435276	0.18994	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	5.0	0.66209	3.003000	0.49192	5.813000	0.50023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.144:0.7065:0.1494	10.603	0.44567	973	0.05605	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1412.33	40	chr13	85795037	.	G	C	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.833;DP=880;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.003;SOR=0.823	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr13	87677246	87677246	G	A	exonic	SLITRK5	.	nonsynonymous SNV	SLITRK5:NM_001384609:exon2:c.G1858A:p.V620I,SLITRK5:NM_001384610:exon2:c.G1858A:p.V620I,SLITRK5:NM_015567:exon2:c.G1858A:p.V620I	.	430	1070	22	0	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00947684562837	0.0010	0.000798722	0.0017	9.612e-05	0.0011	0.0001	0	0.0020	0.0011	0.0035	0.0015459	239	154602	rs77465795	0.0012	0.0012	0.0010	0.0014	0.0071	0.0012	0.0011	0.0054	0.0048	0.0005	0.0015	0.0124	2.519e-05	5.616e-05	0.0071	0.0007	0.0023	0.0043	0.0012	0.0012	0.0011	0.0012	0.0037	0.0010	0.0010	0.0024	0.0020	0.0001	0.0099	0.0022	0.0121	0.0002	9.416e-05	0.0034	0.0009	0.0019	0.0037	0.271	0.15984	T	0.505	0.11004	T	0.01	0.15535	B	0.005	0.11217	B	0.004255	0.33945	N	0.237331	0.976071	0.40286	D	1.04	0.26193	L	0.36	0.57880	T	-0.13	0.08971	N	0.111	0.09772	-1.0452	0.15767	T	0.080	0.31795	T	9	0.004166156	0.00082	T	0.009477	0.24832	T	0.074	0.21613	.	.	0.102598925029	0.09809	0.37218762770052394	0.37132	0.321641541564	0.34361	0.492257088423	0.37752	T	0.102631	0.41054	T	-0.450531	0.01122	T	-0.420077	0.31065	T	0.0210491029008831	0.00806	T	0.738226	0.35599	T	0.0831083	0.19177	0.091754	0.21590	0.0831083	0.19176	0.091754	0.21589	-3.537	0.16954	T	.	.	0.088	0.11845	B	.	.	2.962593	0.39457	21.0	0.90769178803517658	0.20018	0.94180	0.60355	D	AEFDBCI	0.708795	0.66309	D	-0.0559442934036441	0.39336	2.318135	0.144068693584193	0.46829	2.922546	0.999999997920561	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	5.432000	0.66256	10.016000	0.83115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:1.0:0.0	16.804	0.85483	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	2156.33	35	chr13	87677246	.	G	A	2156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=758;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.685;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	18	0	1	0
chr13	91908031	91908031	A	G	exonic	GPC5	.	nonsynonymous SNV	GPC5:NM_004466:exon6:c.A1375G:p.I459V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0251066118635	.	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0001811	28	154602	rs536610153	0.0002	0.0002	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	3.024e-05	0	0.0007	5.085e-05	5.31e-05	0.0002	9.3e-05	0.0001	0.0011	9.207e-05	9.195e-05	0.0001	6.732e-05	0.0006	5.532e-05	4.368e-05	0.0002	8.989e-05	0	0	0	0.0009	0	0	0	0.0001	0	0.0006	0.058	0.37750	T	0.108	0.37589	T	0.283	0.32148	B	0.268	0.39801	B	0.027262	0.25783	N	0.403490	0.909014	0.36362	D	1.585	0.39878	L	0.55	0.54728	T	-0.51	0.15986	N	0.328	0.36884	-0.8283	0.53410	T	0.135	0.45029	T	10	0.06719446	0.09325	T	0.025107	0.48090	D	0.112	0.31546	0.605	0.73706	0.208816687407	0.20498	0.2631073738849352	0.26223	0.0382858610645	0.04071	0.481682956219	0.36290	T	0.189603	0.54388	T	-0.433163	0.01419	T	-0.445426	0.28203	T	0.132876835695397	0.15645	T	0.717028	0.32946	T	0.051750686	0.09549	0.08392884	0.19269	0.051750686	0.09549	0.08392884	0.19269	-5.889	0.45341	T	.	.	0.101	0.17657	B	.	.	2.934137	0.38987	20.9	0.99226167179889302	0.56057	0.94637	0.61818	D	AEFBI	0.621423	0.60612	D	0.00152452593749243	0.41925	2.516546	0.0841694222330689	0.43752	2.670542	0.999953829552494	0.48110	0.542737	0.22433	0	0.573888	0.26702	0	0.573888	0.23631	0	0.638787	0.57140	0	.	.	4.84	3.65	0.40985	4.354000	0.59193	5.926000	0.51241	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9065:0.0:0.0935:0.0	8.074	0.29865	977	0.04225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1180.33	34	chr13	91908031	.	A	G	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=714;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.186;SOR=0.487	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	18	0	1	0
chr13	94286354	94286354	A	G	exonic	GPC6	.	nonsynonymous SNV	GPC6:NM_005708:exon5:c.A883G:p.M295V	Omodysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0287180941684	.	.	1.657e-05	9.649e-05	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs776069396	8.211e-06	8.209e-06	8.169e-06	8.252e-06	5.977e-05	4.38e-06	3.46e-06	9.9e-06	3.7e-06	5.977e-05	2.238e-05	0	0	0	0	7.196e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	0.372	0.34134	B	0.392	0.44215	B	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	2.215	0.62545	M	0.65	0.52642	T	-3.22	0.64939	D	0.843	0.83885	-0.8027	0.54985	T	0.204	0.56183	T	10	0.7624525	0.76450	D	0.028718	0.51350	D	0.334	0.65620	0.632	0.76810	0.764459265346	0.76231	0.8294630070491447	0.82904	0.486265971205	0.47492	0.817727088928	0.84680	D	0.235626	0.72571	T	0.00331634	0.52110	T	0.00365577	0.70573	D	0.813459157943726	0.47294	D	0.854315	0.85550	D	0.58346015	0.71797	0.7223829	0.83606	0.58346015	0.71798	0.7223829	0.83607	-11.595	0.82822	D	.	.	0.474	0.65181	A	.;.	.;.	3.885537	0.56503	23.7	0.99074344652871638	0.51810	0.98319	0.81588	D	AEFBI	0.923270	0.89948	D	0.412843991083931	0.62127	4.423701	0.511058932574749	0.68734	5.261025	0.999999999999817	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	7.119000	0.76770	11.231000	0.90101	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	15.865	0.78836	961	0.08552	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	574.33	37	chr13	94286354	.	A	G	574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.102;DP=677;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.919;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr13	94452649	94452649	C	T	exonic	DCT	.	nonsynonymous SNV	DCT:NM_001129889:exon7:c.G1193A:p.R398H	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0837167963554	9.7e-05	0.000199681	0.0001	0	0.0004	0	0	8.031e-05	0.0024	0.0003	0.00011	17	154602	rs369353671	7.577e-05	8.27e-05	7.956e-05	7.26e-05	0.0003	5.805e-05	5.191e-05	8.038e-05	5.682e-05	0.0001	0.0002	0	0	3.848e-05	0.0003	5.551e-05	0.0003	9.333e-05	9.209e-05	9.193e-05	9.009e-05	9.418e-05	0.0003	5.534e-05	4.369e-05	8.881e-05	5.389e-05	4.824e-05	0	0.0003	0	0.0002	0	0	7.356e-05	0.0005	0.0002	0.124	0.27426	T	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-5.41	0.99076	D	-0.05	0.07736	N	0.133	0.12913	0.629	0.92283	D	0.880	0.96018	D	8	0.050872803	0.04884	T	0.083717	0.74175	D	0.275	0.59130	.	.	0.28798054836	0.28402	0.5725144115941314	0.57179	0.0431920906828	0.04656	0.315429389477	0.12728	T	.	.	.	-0.200801	0.20688	T	-0.256913	0.49131	T	0.00853839359526203	0.00104	T	0.227477	0.03026	T	.	.	.	.	.	.	.	.	-4.602	0.32197	T	.	.	0.116	0.23360	B	.	.	0.424053	0.07949	4.656	0.73547302444682627	0.10367	0.00409	0.02034	N	AEFI	0.023994	0.01418	N	-1.10754162270167	0.06507	0.2997814	-1.19195227816223	0.06043	0.2897228	0.0115309883666715	0.12198	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.51	1.31	0.20837	-0.049000	0.11879	1.061000	0.23721	-0.946000	0.02057	0.001000	0.13787	0.004000	0.18990	0.002000	0.04165	0.7191:0.2809:0.0:0.0	5.735	0.17331	720	0.55521	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	650.33	39	chr13	94452649	.	C	T	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.524;DP=727;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=0.592;SOR=0.401	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1254	18	0	1	0
chr13	95083266	95083266	C	A	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon20:c.G2419T:p.V807F,ABCC4:NM_005845:exon21:c.G2560T:p.V854F	.	419	1067	33	3	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	.	0.0045	0.00758786	0.0079	0.0013	0.0023	0.0001	0.0011	0.0063	0.0056	0.0294	0.0075614	1169	154602	rs11568694	0.0081	0.0081	0.0073	0.0089	0.0303	0.0080	0.0079	0.0293	0.0289	0.0008	0.0032	0.0041	5.04e-05	0.0010	0.0090	0.0075	0.0083	0.0303	0.0051	0.0051	0.0049	0.0053	0.0264	0.0048	0.0047	0.0227	0.0213	0.0013	0.0066	0.0046	0.0058	0	0.0002	0.0034	0.0071	0.0071	0.0264	0.003	0.68238	D	0.031	0.53788	D	0.104	0.30008	B	0.191	0.36391	B	0.009401	0.30383	N	0.373397	0.998144	0.44558	D	2.025	0.55430	M	-2.44	0.88767	D	-3.69	0.70432	D	0.64	0.65245	-0.3675	0.73037	T	0.426	0.76956	T	10	0.006900698	0.00157	T	.	.	.	0.524	0.79825	.	.	0.739652848333	0.73731	0.894728773003859	0.89443	0.38847119965	0.40111	0.308293074369	0.11649	T	0.372334	0.73654	T	-0.242169	0.15074	T	-0.0990057	0.63475	T	0.0588896642916767	0.06993	T	0.928907	0.73860	D	0.4317947	0.62869	0.33212125	0.59064	0.4317947	0.62870	0.33212125	0.59063	-13.51	0.91354	D	.	.	0.312	0.53921	B	.;.;.	.;.;.	1.332641	0.17383	13.13	0.99136705836733319	0.53410	0.83892	0.42984	D	AEFDBIJ	0.264943	0.38218	N	-0.701521546905509	0.15978	0.8100986	-0.680122938219504	0.17458	0.9284021	0.989342465083127	0.31795	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.42	0.388	0.15489	1.073000	0.30302	-0.296000	0.10153	-0.313000	0.06017	0.999000	0.42656	0.005000	0.19230	0.328000	0.25156	0.0:0.5339:0.0:0.4661	9.824	0.40067	916	0.20744	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.015152	0.008152	0.002924	0.000000	0.008621	0.030488	0.026515	0.05263	2560.81	34	chr13	95083266	.	C	A	2560.81	.	AC=2;AF=0.053;AN=38;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.1;SOR=0.887	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	1	0	0
chr13	95854379	95854379	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon35:c.G4105A:p.G1369R	.	435	1085	2	0	0	2	0.00092081	.	.	.	702745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.672	0.142058154702	0.0032	0.00199681	0.0030	0.0009	0.0013	0	0.0056	0.0041	0.0033	0.0017	0.0030983	479	154602	rs145358686	0.0051	0.0051	0.0053	0.0049	0.0060	0.0050	0.0050	0.0058	0.0058	0.0008	0.0015	0.0002	0	0.0060	0.0021	0.0060	0.0046	0.0016	0.0037	0.0037	0.0039	0.0036	0.0059	0.0035	0.0034	0.0054	0.0052	0.0010	0.0099	0.0027	0	0	0.0056	0	0.0059	0.0024	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.69	0.94526	H	0.97	0.42502	T	-7.61	0.95366	D	0.943	0.95021	-0.0426	0.81363	T	0.319	0.68857	T	10	0.059627384	0.07198	T	0.142058	0.82445	D	0.672	0.87868	0.556	0.67409	0.685853827566	0.68316	0.837102667441113	0.83670	0.385331430999	0.39823	0.684976816177	0.64984	T	0.290313	0.66308	T	-0.0250279	0.48134	T	0.195138	0.82860	D	0.1431083026559	0.16540	T	0.992101	0.97494	D	0.9050004	0.91834	0.8922527	0.94426	0.9050004	0.91835	0.8922527	0.94427	-11.858	0.84152	D	.	.	0.23	0.46273	B	.	.	5.112324	0.85468	28.6	0.99934753574211344	0.99535	0.97791	0.77159	D	AEFBI	0.927851	0.91115	D	0.976938435614212	0.94991	13.21307	0.894574479680952	0.95331	13.52206	0.999999857615552	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	7.568000	0.81546	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.099	0.93248	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.000000	0.005848	0.000000	0.008621	0.003049	0.000000	0.02632	650.33	34	chr13	95854379	.	C	T	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.086;DP=692;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.07;SOR=0.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr13	95989982	95989982	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon8:c.G922A:p.E308K	.	481	1038	3	0	0	3	0.001443	.	.	.	2341572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.077761313079	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000207	32	154602	rs144698764	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	3.016e-05	9.134e-05	7.746e-05	0	3.804e-05	0.0017	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.551e-05	0.0003	0	0	0.0068	0.0004	0	0.0006	0.005	0.65419	D	0.009	0.66756	D	0.997	0.90584	D	0.926	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.2	0.89116	M	1.49	0.31470	T	-2.2	0.52451	N	0.637	0.72656	-0.3469	0.73643	T	0.282	0.65428	T	10	0.454093	0.58880	T	0.077761	0.72846	D	0.360	0.68052	.	.	0.407357902709	0.40350	0.7285501058951237	0.72799	0.375299811977	0.38983	0.619002223015	0.55588	T	0.014376	0.12250	T	-0.13135	0.31277	T	-0.0859029	0.64468	T	0.303142368793488	0.25133	T	0.855914	0.54393	D	0.54341054	0.69587	0.43556666	0.67038	0.54341054	0.69589	0.43556666	0.67038	-6.845	0.52893	T	.	.	0.466	0.65332	A	.;.	.;.	4.723857	0.76021	26.4	0.998889672635492	0.96359	0.94734	0.62146	D	AEFGI	0.620370	0.60546	D	0.839567151726641	0.88505	9.604193	0.772847654419577	0.87852	9.367107	0.99996777055068	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	2.015000	0.40581	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.485	0.90774	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	972.33	33	chr13	95989982	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=712;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.85;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr13	96987341	96987341	C	G	exonic	OXGR1	.	nonsynonymous SNV	OXGR1:NM_001346194:exon4:c.G419C:p.S140T,OXGR1:NM_001346195:exon4:c.G419C:p.S140T,OXGR1:NM_001346196:exon4:c.G419C:p.S140T,OXGR1:NM_001346197:exon4:c.G419C:p.S140T,OXGR1:NM_080818:exon4:c.G419C:p.S140T	.	0	225	0	1	0	2	0.00442478	.	.	.	2236676	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.00626546284933	.	.	5.771e-05	0	8.657e-05	0	0	7.498e-05	0	6.061e-05	4.53e-05	7	154602	rs772643646	3.967e-05	3.967e-05	3.675e-05	4.263e-05	0.0014	3.113e-05	2.846e-05	0.0007	0.0005	5.974e-05	6.708e-05	0	0	0	0.0014	3.147e-05	6.623e-05	6.956e-05	5.252e-05	5.249e-05	6.423e-05	4.028e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	9.06e-06	4.812e-05	0	0.0001	0	0	0	0.0034	4.409e-05	0	0	0.073	0.34800	T	0.154	0.32040	T	0.001	0.07471	B	0.004	0.10090	B	0.011732	0.29422	N	0.361134	0.769525	0.29452	N	1.245	0.31408	L	1.17	0.37910	T	-0.59	0.17624	N	0.101	0.10198	-1.0590	0.12007	T	0.053	0.22423	T	10	0.10871652	0.20251	T	0.006265	0.16435	T	0.091	0.26358	0.498	0.58835	0.368369118721	0.36443	0.17841026517145916	0.17760	0.0413162352792	0.04434	0.335256397724	0.15726	T	0.028905	0.20830	T	-0.284146	0.10234	T	-0.448961	0.27811	T	0.066310741007328	0.08124	T	0.526647	0.17353	T	0.086520225	0.20114	0.10703108	0.25760	0.086520225	0.20114	0.10703108	0.25760	-4.339	0.28720	T	.	.	0.084	0.09917	B	.;.	.;.	2.516682	0.32515	19.06	0.97366198986070007	0.33598	0.95667	0.65647	D	AEFGBI	0.607213	0.59726	D	-0.229364204857556	0.31934	1.79568	-0.0125630643377573	0.39146	2.316688	0.938922480691351	0.27365	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	1.294000	0.32971	2.738000	0.34441	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.988000	0.63387	0.0:0.8424:0.0:0.1576	9.746	0.39615	716	0.55970	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2530.33	35	chr13	96987341	.	C	G	2530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=901;ExcessHet=0;FS=7.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.152;SOR=1.256	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr13	97346870	97346870	G	A	exonic	MBNL2	.	nonsynonymous SNV	MBNL2:NM_001382682:exon4:c.G322A:p.A108T,MBNL2:NM_001382693:exon4:c.G442A:p.A148T,MBNL2:NM_001382696:exon4:c.G322A:p.A108T,MBNL2:NM_001306070:exon5:c.G607A:p.A203T,MBNL2:NM_001382649:exon5:c.G607A:p.A203T,MBNL2:NM_001382650:exon5:c.G607A:p.A203T,MBNL2:NM_001382652:exon5:c.G607A:p.A203T,MBNL2:NM_001382656:exon5:c.G607A:p.A203T,MBNL2:NM_001382661:exon5:c.G607A:p.A203T,MBNL2:NM_001382666:exon5:c.G607A:p.A203T,MBNL2:NM_001382667:exon5:c.G607A:p.A203T,MBNL2:NM_001382669:exon5:c.G607A:p.A203T,MBNL2:NM_001382670:exon5:c.G607A:p.A203T,MBNL2:NM_001382671:exon5:c.G607A:p.A203T,MBNL2:NM_001382672:exon5:c.G607A:p.A203T,MBNL2:NM_001382673:exon5:c.G607A:p.A203T,MBNL2:NM_001382674:exon5:c.G607A:p.A203T,MBNL2:NM_001382675:exon5:c.G607A:p.A203T,MBNL2:NM_001382676:exon5:c.G607A:p.A203T,MBNL2:NM_001382681:exon5:c.G607A:p.A203T,MBNL2:NM_001382683:exon5:c.G607A:p.A203T,MBNL2:NM_001382684:exon5:c.G607A:p.A203T,MBNL2:NM_001382685:exon5:c.G607A:p.A203T,MBNL2:NM_001382686:exon5:c.G607A:p.A203T,MBNL2:NM_001382687:exon5:c.G607A:p.A203T,MBNL2:NM_001382688:exon5:c.G607A:p.A203T,MBNL2:NM_144778:exon5:c.G607A:p.A203T,MBNL2:NM_207304:exon5:c.G607A:p.A203T,MBNL2:NM_001382654:exon6:c.G607A:p.A203T,MBNL2:NM_001382660:exon6:c.G607A:p.A203T,MBNL2:NM_001382663:exon6:c.G607A:p.A203T,MBNL2:NM_001382668:exon6:c.G607A:p.A203T,MBNL2:NM_001382689:exon6:c.G478A:p.A160T,MBNL2:NM_001382690:exon6:c.G478A:p.A160T,MBNL2:NM_001382691:exon6:c.G478A:p.A160T,MBNL2:NM_001382692:exon6:c.G478A:p.A160T,MBNL2:NM_001382651:exon7:c.G607A:p.A203T,MBNL2:NM_001382653:exon7:c.G607A:p.A203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0112436927501	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs376380451	6.089e-05	6.088e-05	6.263e-05	5.914e-05	0.0002	5.029e-05	4.672e-05	0.0001	9.193e-05	2.987e-05	0.0002	0.0022	0	0	0	8.095e-06	0.0002	0	5.261e-05	5.255e-05	7.713e-05	2.693e-05	2.941e-05	2.559e-05	1.831e-05	4.88e-06	1.83e-06	0	0	0	0.0017	0	0	0	2.941e-05	0	0	0.353	0.13479	T	0.674	0.07716	T	0.02	0.37219	B	0.067	0.38902	B	0.000006	0.62929	D	0.144281	0.996089	0.81001	D	0.915	0.23335	L	1.48	0.31731	T	-1.16	0.29933	N	0.538	0.56576	-1.0900	0.05532	T	0.062	0.25780	T	10	0.03393373	0.01584	T	0.011244	0.28661	T	0.078	0.22779	.	.	0.228066490088	0.22430	0.46823783887520615	0.46742	0.858780250955	0.68872	0.76560151577	0.76765	T	0.095911	0.39718	T	-0.345091	0.05043	T	-0.435916	0.29265	T	0.0307883266359568	0.02113	T	0.914109	0.69400	D	0.113722876	0.26855	0.13703665	0.32767	0.113722876	0.26855	0.13703665	0.32766	-4.111	0.25452	T	.	.	0.073	0.07177	B	.;.;.;.	.;.;.;.	5.061341	0.84364	28.3	0.99758151479377166	0.84851	0.95192	0.63778	D	AEFDGBHI	0.418116	0.48588	N	0.146260243143484	0.48634	3.073365	0.32781432693418	0.57179	3.882927	0.999999962947652	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.550215	0.18615	0	0.714379	0.83352	0	.	.	5.95	5.03	0.67015	5.088000	0.64319	8.341000	0.76995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8704:0.1296	17.907	0.88840	786	0.46839	Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1585.33	36	chr13	97346870	.	G	A	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=769;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-2.213;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr13	97976743	97976743	G	C	exonic	IPO5	.	nonsynonymous SNV	IPO5:NM_002271:exon4:c.G47C:p.G16A	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.530626932139	.	.	1.688e-05	0	0	0	0	0	0	9.362e-05	6.5e-06	1	154602	rs746335867	3.941e-06	4.788e-06	6.271e-06	1.585e-06	3.795e-05	1.15e-06	8.4e-07	1.008e-05	4.79e-06	0	0	0	0	0	0	2.01e-06	0	3.795e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.91255	T	0.101	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000011	0.62929	U	0.066021	0.993914	0.42096	D	0.95	0.23787	L	-0.22	0.66474	T	-0.27	0.89272	N	0.194	0.39659	-1.0149	0.25368	T	0.118	0.41560	T	10	0.19717723	0.35639	T	0.530627	0.95583	D	0.145	0.38592	0.32	0.29902	0.421250438938	0.41742	0.2015618115773803	0.20073	0.428187793213	0.43146	0.754503190517	0.75112	T	0.013	0.40604	T	-0.0349662	0.46692	T	-0.288003	0.45980	T	0.374773323535919	0.27981	T	0.855914	0.70760	D	0.20413849	0.42514	0.15171607	0.35727	0.20413849	0.42514	0.15171607	0.35726	-3.005	0.15738	T	.	.	0.199	0.68516	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.835828	0.37399	20.5	0.9852591209156577	0.42533	0.70625	0.34668	D	ALL	0.545069	0.55973	D	-0.507098529417766	0.21850	1.162586	-0.34526020414177	0.26655	1.473762	0.999999999876652	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.68	1.91	0.24841	3.810000	0.55318	4.447000	0.43408	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1904:0.0:0.8096:0.0	8.649	0.33189	610	0.67008	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Importin-beta, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	601.33	41	chr13	97976743	.	G	C	601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=773;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=1.03;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr13	98021002	98021002	A	G	exonic	IPO5	.	nonsynonymous SNV	IPO5:NM_002271:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00480462995933	.	0.000399361	0.0002	0	8.639e-05	0.0001	0	4.496e-05	0	0.0012	0.0001746	27	154602	rs566380360	8.928e-05	9.03e-05	5.603e-05	0.0001	0.0012	7.652e-05	7.195e-05	0.0010	0.0009	3.02e-05	2.289e-05	3.833e-05	2.545e-05	5.619e-05	0.0002	1.713e-05	8.311e-05	0.0012	7.881e-05	7.875e-05	8.997e-05	6.715e-05	0.0015	4.495e-05	3.511e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	4.411e-05	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000001	0.84330	N	0.092240	0.990263	0.41739	D	-0.08	0.04796	N	3.02	0.08986	T	0.1	0.05810	N	0.178	0.19190	-0.9557	0.39970	T	0.011	0.04227	T	10	0.013035625	0.00278	T	0.004805	0.12004	T	0.163	0.42028	0.355	0.35571	0.171220215726	0.16700	0.12087714163340939	0.12014	0.292155956161	0.31621	0.369780659676	0.20800	T	0.049676	0.28376	T	-0.617259	0.00114	T	-0.709867	0.05302	T	0.012555805966258	0.00208	T	0.676832	0.28555	T	0.049838804	0.08912	0.040826984	0.04502	0.049838804	0.08912	0.040826984	0.04502	-4.254	0.27527	T	.	.	0.050	0.00127	B	.;.;.	.;.;.	1.704563	0.21711	15.32	0.46774431772074432	0.03772	0.91480	0.53620	D	AEFBI	0.523213	0.54690	D	-0.675153142165468	0.16730	0.8550176	-0.467337747591022	0.23060	1.255594	0.999795495801782	0.43153	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	1.75	0.23707	2.103000	0.41430	0.599000	0.19904	0.756000	0.94297	0.940000	0.32642	0.002000	0.18203	0.994000	0.71098	0.7442:0.0:0.2558:0.0	10.357	0.43154	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1292.33	34	chr13	98021002	.	A	G	1292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=797;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.996;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1401	18	0	1	0
chr13	98810219	98810219	C	T	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366677:exon46:c.G5146A:p.D1716N,DOCK9:NM_001366679:exon46:c.G5110A:p.D1704N,DOCK9:NM_001366680:exon46:c.G5110A:p.D1704N,DOCK9:NM_001366682:exon46:c.G5203A:p.D1735N,DOCK9:NM_001366683:exon46:c.G5203A:p.D1735N,DOCK9:NM_001366681:exon47:c.G5272A:p.D1758N,DOCK9:NM_001366684:exon47:c.G5272A:p.D1758N	.	431	1076	15	0	0	15	0.00692201	.	.	.	3237940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0158218844698	0.0002	.	0.0009	0.0002	0.0012	0.0001	0	0.0011	0.0056	0.0007	0.0008085	125	154602	rs61745987	0.0007	0.0007	0.0006	0.0007	0.0196	0.0007	0.0006	0.0167	0.0156	0.0007	0.0010	0.0053	2.519e-05	0	0.0196	0.0005	0.0015	0.0009	0.0008	0.0008	0.0007	0.0008	0.0010	0.0007	0.0006	0.0006	0.0006	0.0003	0	0.0010	0.0066	0	0	0.0238	0.0008	0.0009	0.0010	0.008	0.61437	D	0.027	0.57104	D	0.922	0.51142	P	0.34	0.42389	B	0.000000	0.84330	D	0.048763	0.999999	0.81001	D	.	.	.	2.44	0.44065	T	-2.49	0.65858	N	0.688	0.69387	-0.5528	0.66680	T	0.310	0.68076	T	10	0.012893587	0.00275	T	0.015822	0.36761	T	0.096	0.27654	.	.	0.540862856989	0.53738	0.8476392026427827	0.84724	0.730581440228	0.62714	0.885585129261	0.94699	D	.	.	.	-0.445314	0.01203	T	-0.468787	0.25646	T	0.0847294772771088	0.10581	T	0.936106	0.76517	D	.	.	.	.	.	.	.	.	-11.319	0.81378	D	.	.	0.161	0.48817	B	.;.;.;.;.	.;.;.;.;.	4.669038	0.74605	26.2	0.99886130288547437	0.96126	0.95884	0.66568	D	AEFBI	0.624964	0.60834	D	0.243366551306506	0.53310	3.500613	0.29111436535079	0.55020	3.665534	0.999999931017631	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	4.5	0.54382	4.597000	0.60770	5.926000	0.51241	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.1399:0.8601:0.0:0.0	15.434	0.74851	957	0.09725	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.017663	0.040936	0.050000	0.017241	0.000000	0.003788	0.02632	985.33	34	chr13	98810219	.	C	T	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=725;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.242;SOR=0.45	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1357	18	0	1	0
chr13	98848625	98848625	T	C	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366677:exon37:c.A4064G:p.Q1355R,DOCK9:NM_001366679:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366680:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366681:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366682:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366683:exon37:c.A4028G:p.Q1343R,DOCK9:NM_001366684:exon37:c.A4028G:p.Q1343R	.	414	1093	12	3	0	18	0.00816697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	0.0011	0.00678914	0.0045	0.0001	0.0010	0	0	0.0017	0.0083	0.0268	0.0035187	544	154602	rs147025665	0.0024	0.0024	0.0018	0.0030	0.0200	0.0023	0.0023	0.0193	0.0189	0.0001	0.0011	3.832e-05	0	0.0001	0.0043	0.0013	0.0028	0.0200	0.0016	0.0016	0.0014	0.0019	0.0236	0.0015	0.0014	0.0201	0.0188	0.0002	0	0.0010	0.0003	0	9.422e-05	0.0034	0.0015	0	0.0236	0.071	0.55530	T	0.13	0.92824	T	0.758	0.43456	P	0.669	0.53077	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.45636	T	-1.55	0.40274	N	0.914	0.91621	-0.4751	0.69545	T	0.341	0.70672	T	10	0.009998351	0.00224	T	.	.	.	0.401	0.71479	.	.	0.698603802485	0.69600	0.5804109981760815	0.57970	1.05946372155	0.76434	0.787563562393	0.80072	T	0.047416	0.27718	T	-0.0862132	0.38700	T	0.120304	0.78256	D	0.0353900939445831	0.02875	T	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-12.444	0.86946	D	.	.	0.386	0.64265	A	.;.;.;.	.;.;.;.	4.086269	0.60819	24.3	0.99861732954655225	0.94002	0.98964	0.89257	D	AEFBI	0.891832	0.82818	D	0.473368022672779	0.65540	4.835405	0.553928948968649	0.71672	5.690526	0.999999999964978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.639000	0.82491	7.901000	0.73554	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.055	0.80592	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	552.33	38	chr13	98848625	.	T	C	552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.767;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=1.1;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr13	99970414	99970434	GGCGGCGGCGGCGGCGGCGGC	-	exonic	ZIC5	.	nonframeshift deletion	ZIC5:NM_033132:exon1:c.1242_1262del:p.P418_P424del	.	146	836	5	0	535	540	0.00298151	.	.	.	725540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0130	.	0.0092	0	0.0043	0	0.0015	0.0092	0.0167	0.0153	0.0001153	3	26028	rs774118755	0.0091	0.0066	0.0079	0.0104	0.0476	0.0089	0.0089	0.0455	0.0447	0.0018	0.0298	0.0343	0.0005	0.0085	0.0165	0.0074	0.0106	0.0476	0.0052	0.0048	0.0057	0.0047	0.0130	0.0049	0.0048	0.0100	0.0090	0.0010	0	0.0059	0.0121	0.0006	0.0027	0.0290	0.0075	0.0061	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9738.05	34	chr13	99970413	.	TGGCGGCGGCGGCGGCGGCGGC	T	9738.05	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.135;DP=1133;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=0.249;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	17	0	2	0
chr13	99970422	99970422	C	0	exonic	ZIC5	.	.	.	.	80	1344	34	1	63	99	0.0132159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	697.52	34	chr13	99970422	.	C	*	697.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.919;DP=909;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=1.5;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	17	0	2	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	258.3	43	chr13	99982726	.	T	C	258.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.333;DP=1129;ExcessHet=0.119;FS=169.358;InbreedingCoeff=-0.0474;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.28;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1050:.	17	0	2	0
chr13	100626083	100626083	C	T	exonic	TMTC4	.	nonsynonymous SNV	TMTC4:NM_001286453:exon10:c.G1184A:p.R395Q,TMTC4:NM_001079669:exon12:c.G1517A:p.R506Q,TMTC4:NM_001350577:exon12:c.G1511A:p.R504Q,TMTC4:NM_001350572:exon13:c.G1517A:p.R506Q,TMTC4:NM_001350574:exon13:c.G1691A:p.R564Q,TMTC4:NM_001350576:exon13:c.G1568A:p.R523Q,TMTC4:NM_032813:exon13:c.G1574A:p.R525Q,TMTC4:NM_001350571:exon14:c.G1748A:p.R583Q	.	427	1092	3	0	0	3	0.00137174	.	.	.	2393049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.181	0.0211073154473	.	.	0.0001	0	0	0	0	5.994e-05	0.0011	0.0007	0.00011	17	154602	rs761915644	8.345e-05	8.345e-05	4.764e-05	0.0001	0.0014	7.136e-05	6.684e-05	0.0007	0.0006	2.987e-05	2.236e-05	0	0	0	0.0014	3.058e-05	6.623e-05	0.0009	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0.0005	0.0006	0.124	0.27904	T	0.228	0.25907	T	0.66	0.48822	P	0.364	0.45170	B	0.000000	0.84330	D	0.000000	0.999984	0.58761	D	1.695	0.43389	L	0.23	0.59717	T	-2.05	0.48184	N	0.721	0.76573	-0.7897	0.55747	T	0.206	0.56417	T	10	0.381083	0.54198	T	0.021107	0.43827	T	0.181	0.45247	0.497	0.58678	0.736212731169	0.73385	0.6771842024311219	0.67657	0.189387229958	0.21256	0.66056728363	0.61491	T	0.020934	0.16390	T	-0.148733	0.28511	T	-0.0592261	0.66386	T	0.079789621662878	0.09960	T	0.979602	0.93758	D	0.29281303	0.52253	0.19313791	0.42866	0.29281303	0.52253	0.19313791	0.42865	-8.609	0.65149	D	.	.	0.103	0.25199	B	.;.;.	.;.;.	4.631061	0.73628	26.0	0.99938163303955607	0.99698	0.99000	0.89771	D	AEFGBI	0.915615	0.88066	D	0.417496618449343	0.62384	4.453456	0.499082126510746	0.67931	5.150398	0.999999999999844	0.74766	0.719381	0.83141	0	0.601575	0.49859	0	0.80507	0.99327	0	0.733575	0.97253	0	.	.	5.3	5.3	0.74745	7.840000	0.85068	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	19.324	0.94242	675	0.60470	Tetratricopeptide repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1178.33	33	chr13	100626083	.	C	T	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=748;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.563;SOR=0.6	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	18	0	1	0
chr13	101827924	101827924	-	A	splicing	FGF14	NM_001321937:exon4:c.424-2->T	.	.	Spinocerebellar ataxia 27, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011142	29	26028	rs1183256611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0036	0.0031	0.0028	0.0041	0.0027	0.0026	0.0035	0.0033	0.0041	0	0.0034	0.0034	0.0016	0.0049	0	0.0021	0.0039	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1687.09	20	chr13	101827924	.	T	TA	1687.09	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=1172;ExcessHet=25.4433;FS=5.218;InbreedingCoeff=-0.6955;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=0.36;SOR=1.169	GT:AD:DP:GQ:PL	0/1:46,11:59:82:82,0,1556	18	0	1	0
chr13	102731601	102731601	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G19096A:p.D6366N	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0129531102725	.	0.00159744	0.0049	0	0.0049	0	0	0.0082	0	0.0033	0.0011125	172	154602	rs146908292	0.0027	0.0026	0.0027	0.0027	0.0029	0.0026	0.0026	0.0026	0.0025	0.0002	0.0017	0.0280	0	0.0011	0.0012	0.0024	0.0033	0.0029	0.0021	0.0021	0.0021	0.0021	0.0026	0.0019	0.0019	0.0020	0.0018	0.0004	0	0.0026	0.0259	0	0.0008	0.0034	0.0022	0.0028	0.0014	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.096	0.07673	-0.9725	0.36670	T	0.015	0.06234	T	9	0.003477186	0.00062	T	0.012953	0.31963	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.03372737036891472	0.03320	.	.	0.373534619808	0.21338	T	.	.	.	-0.691426	0.00041	T	-0.769327	0.02790	T	0.0260278862692175	0.01411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.	.	0.282265	0.06588	3.082	0.99234602965843144	0.56342	0.02524	0.07029	N	AEFGBI	0.022120	0.01067	N	-0.382046746866213	0.26108	1.422408	-0.486863384320249	0.22515	1.223265	0.999770521982923	0.42865	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.48	2.75	0.31439	-0.553000	0.06104	-0.138000	0.11547	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.359000	0.25863	0.0:0.7936:0.0:0.2064	7.111	0.24566	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3436.33	86	chr13	102731601	.	C	T	3436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=1900;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.939;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	18	0	1	0
chr13	102731998	102731998	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G18699A:p.M6233I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0051389339871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267132358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.316e-05	1.314e-05	0	2.694e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.233	0.26233	-0.9216	0.45334	T	0.006	0.02168	T	9	0.047190875	0.04005	T	0.005139	0.13063	T	0.006	0.00375	.	.	0.0297737177859	0.01360	0.021464167782097508	0.02099	.	.	0.320323437452	0.13471	T	.	.	.	-0.30072	0.08591	T	-0.66974	0.07625	T	0.0268754076163665	0.01526	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47986	B	.	.	-1.043386	0.00711	0.021	0.36215255858431872	0.02317	0.00088	0.00587	N	AEFGBI	0.012434	0.00136	N	-1.43535945841768	0.02334	0.1029532	-1.47605310603348	0.02542	0.1170878	0.992590014691921	0.32897	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.86	-2.73	0.05599	-0.155000	0.10101	-0.244000	0.10566	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5749:0.0:0.4251	9.249	0.36707	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2639.33	86	chr13	102731998	.	C	T	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.77;DP=1929;ExcessHet=0;FS=6.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.458;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	18	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/0:144,0:144:15:0,15,3519	7	0	8	4
chr13	102737733	102737733	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12964A:p.G4322S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000399361	0.0025	0.0009	0	0	0	0.0027	0.0105	0.0029	0.0008667	134	154602	rs201135379	0.0037	0.0036	0.0037	0.0037	0.0043	0.0036	0.0036	0.0042	0.0042	0.0008	0.0008	0.0004	5.597e-05	0.0010	0.0009	0.0043	0.0029	0.0033	0.0022	0.0022	0.0025	0.0018	0.0039	0.0020	0.0019	0.0035	0.0034	0.0008	0	0.0005	0.0012	0	0.0003	0	0.0039	0.0009	0.0025	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0057035685	0.00127	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.07433698046328129	0.07369	.	.	0.245546251535	0.03313	T	.	.	.	-0.488312	0.00664	T	-0.472974	0.25198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	0.196141	0.05818	2.257	0.37996960343091668	0.02537	0.00402	0.02007	N	AEFBI	.	.	.	.	.	.	.	.	.	0.940105724638575	0.27417	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.82	-1.19	0.09091	0.044000	0.13876	-6.220000	0.01461	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2399:0.3529:0.2366:0.1706	0.697	0.00844	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2856.33	68	chr13	102737733	.	C	T	2856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=2529;ExcessHet=0;FS=2.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=1.55;SOR=0.929	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	18	0	1	0
chr13	102737736	102737736	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12961A:p.E4321K	.	427	1084	10	1	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00279553	0.0047	0.0009	0.0024	0	0.0294	0.0074	0	0.0033	0.0020181	312	154602	rs117481050	0.0100	0.0095	0.0102	0.0097	0.0119	0.0098	0.0098	0.0117	0.0116	0.0014	0.0035	0.0014	0	0.0047	0.0009	0.0119	0.0080	0.0030	0.0060	0.0060	0.0065	0.0056	0.0104	0.0057	0.0056	0.0097	0.0095	0.0019	0	0.0041	0.0014	0.0002	0.0041	0	0.0104	0.0062	0.0010	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.14763	.	.	.	.	.	.	.	0.0032805502	0.00056	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.12682296478639074	0.12608	.	.	0.244585797191	0.03219	T	.	.	.	-0.548664	0.00297	T	-0.549863	0.17339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11220	B	.	.	-1.228237	0.00503	0.011	0.37309490147572555	0.02451	0.01149	0.04157	N	AEFBI	.	.	.	.	.	.	.	.	.	0.967721920860757	0.28998	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.84	-2.39	0.06223	-1.881000	0.01717	-7.496000	0.01144	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7075:0.2925:0.0:0.0	7.306	0.25624	952	0.10565	.	.	.	ERCC5	Breast_Mammary_Tissue	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001266	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1930.33	68	chr13	102737736	.	C	T	1930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=2572;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.25;SOR=0.507	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	18	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:141,56:208:99:247,0,3429	5	0	11	3
chr13	102747411	102747411	G	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C3286A:p.P1096T	.	437	1030	54	1	0	56	0.026465	.	.	.	2814000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0059	0.00119808	0.0067	0.0010	0.0049	0	0.0294	0.0077	0.0161	0.0075	0.0017982	278	154602	rs143261898	0.0064	0.0061	0.0063	0.0065	0.0172	0.0063	0.0062	0.0145	0.0135	0.0011	0.0044	0.0057	2.801e-05	0.0049	0.0172	0.0069	0.0068	0.0057	0.0046	0.0046	0.0045	0.0046	0.0069	0.0043	0.0042	0.0063	0.0061	0.0013	0.0022	0.0040	0.0049	0.0006	0.0055	0.0170	0.0069	0.0071	0.0033	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	0.0028288662	0.00045	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03888631661266264	0.03834	.	.	0.26743721962	0.05809	T	.	.	.	-0.488708	0.00660	T	-0.467949	0.25737	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.	.	0.562261	0.09308	6.089	0.7472471519397319	0.10803	0.03453	0.08599	N	AEFBI	.	.	.	.	.	.	.	.	.	0.98821201155232	0.31445	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.111679	0.23776	4.56	-4.59	0.03158	-0.246000	0.08896	-1.417000	0.05489	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.226:0.1078:0.1881:0.4781	1.570	0.02455	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007418	0.000000	0.011905	0.014423	0.000000	0.000000	0.007246	0.015152	0.02632	1633.33	87	chr13	102747411	.	G	T	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=1873;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.96;SOR=0.585	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr13	102748182	102748182	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2515C:p.D839H	.	422	1075	23	2	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0063	0	0	0	0	0.0009	0	0.0147	0.0009573	148	154602	rs201385481	0.0012	0.0011	0.0008	0.0016	0.0130	0.0011	0.0011	0.0123	0.0120	0.0003	0.0005	0.0023	0	2.033e-05	0.0079	0.0004	0.0012	0.0130	0.0009	0.0009	0.0007	0.0010	0.0131	0.0007	0.0007	0.0105	0.0095	9.626e-05	0	0.0007	0.0026	0	0	0.0102	0.0006	0.0005	0.0131	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.16725	.	.	.	.	.	.	.	0.0035596192	0.00064	T	.	.	.	.	.	.	.	0.101711395817	0.09552	0.11866852935514956	0.11793	.	.	0.297845751047	0.10081	T	.	.	.	-0.3931	0.02568	T	-0.325761	0.41940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.42906	B	.	.	1.842564	0.23410	16.01	0.60445217256569217	0.06465	0.08250	0.14203	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.997443085642571	0.35625	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.124674	0.25123	4.75	3.9	0.44240	0.430000	0.21147	0.122000	0.14930	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.449000	0.27873	0.0:0.9005:0.0:0.0995	9.124	0.35966	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001445	0.000000	0.000000	0.004717	0.200000	0.000000	0.000000	0.000000	0.02632	3142.33	119	chr13	102748182	.	C	G	3142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.636;DP=2829;ExcessHet=0;FS=7.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.426;SOR=0.353	GT:AD:DP:GQ:PL	0/1:69,114:183:99:3156,0,1979	18	0	1	0
chr13	102769439	102769439	C	T	exonic	TEX30	.	nonsynonymous SNV	TEX30:NM_001286775:exon3:c.G118A:p.G40R,TEX30:NM_138779:exon3:c.G118A:p.G40R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0777014010211	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs745464059	0.0001	0.0001	4.771e-05	0.0002	0.0018	9.483e-05	8.964e-05	0.0016	0.0015	0	0	0	0	0	0	8.999e-07	1.658e-05	0.0018	7.229e-05	7.224e-05	1.285e-05	0.0001	0.0021	3.972e-05	3.128e-05	0.0011	0.0009	0	0	0	0	0	0	0	1.47e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000015	0.62929	D	0.113498	0.999995	0.81001	D	2.415	0.69758	M	1.79	0.25509	T	-5.85	0.88495	D	0.94	0.98563	-0.8131	0.54362	T	0.190	0.54123	T	10	0.26049343	0.43499	T	0.077701	0.72832	D	0.534	0.80426	0.449	0.50957	0.339316883193	0.33537	0.7284628663917987	0.72790	0.76600582791	0.64516	0.776401102543	0.78385	T	0.200587	0.55822	T	-0.0545875	0.43748	T	0.129798	0.78880	D	0.260355859915225	0.23330	T	0.949105	0.80429	D	0.58918273	0.72106	0.6975599	0.82188	0.58918273	0.72107	0.6975599	0.82189	-7.633	0.69538	D	.	.	0.904	0.86586	P	.;.;.	.;.;.	4.929661	0.81258	27.5	0.99931086612387454	0.99387	0.89285	0.49657	D	AEFDGBCI	0.850841	0.76769	D	0.839811972008247	0.88520	9.609542	0.821338978795463	0.91236	10.78568	0.999999999996546	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	6.307000	0.72783	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.153	0.98091	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1339.33	39	chr13	102769439	.	C	T	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.507;DP=718;ExcessHet=0;FS=4.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.592;SOR=0.86	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	18	0	1	0
chr13	102858296	102858296	C	G	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon6:c.C550G:p.Q184E,BIVM-ERCC5:NM_001204425:exon14:c.C1912G:p.Q638E	.	1	1517	4	0	0	4	0.00131666	.	.	.	2302751	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00383742097825	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.057e-05	2.59e-05	4	154602	rs774188914	2.668e-05	2.668e-05	2.723e-05	2.613e-05	0.0007	1.997e-05	1.754e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0	0	0.0007	1.439e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.15	0.29158	T	0.51	0.28120	T	0.304	0.32663	B	0.057	0.26280	B	0.048797	0.23220	N	0.449991	0.966444	0.25893	N	0.69	0.16971	N	1.91	0.23283	T	-1.0	0.26422	N	0.112	0.09914	-1.0100	0.26917	T	0.036	0.15683	T	10	0.11219841	0.21038	T	0.003837	0.08992	T	0.046	0.12618	0.269	0.21735	0.329540904979	0.32555	0.05496004706168402	0.05437	0.143694538918	0.16225	.	.	.	0.122575	0.44634	T	-0.429487	0.01493	T	-0.652051	0.08811	T	0.0389960706233978	0.03509	T	0.879112	0.59504	D	0.075817905	0.17107	0.07181042	0.15420	0.075817905	0.17106	0.07181042	0.15420	-9.481	0.70995	D	.	.	0.073	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.740838	0.35902	20.1	0.96911502309577913	0.31577	0.80383	0.40035	D	AEFDBI	0.132994	0.25250	N	-0.235277679091678	0.31695	1.779839	-0.0993867615122395	0.35416	2.048716	0.883385116943605	0.25672	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.31	2.85	0.32333	0.438000	0.21277	1.673000	0.27967	0.599000	0.40250	0.880000	0.30988	1.000000	0.68203	0.993000	0.69303	0.3034:0.559:0.0:0.1377	6.846	0.23173	936	0.14734	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	33	chr13	102858296	.	C	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.35;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1485	18	0	1	0
chr13	102862591	102862591	T	G	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon8:c.T1442G:p.V481G,BIVM-ERCC5:NM_001204425:exon16:c.T2804G:p.V935G	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00433418042678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.026	0.55759	D	0.0	0.02946	B	0.0	0.01387	B	0.003684	0.00978	N	2.558020	0.999999	0.08975	N	1.32	0.33002	L	3.56	0.04696	T	-1.28	0.32185	N	0.082	0.05799	-1.0032	0.28992	T	0.011	0.04274	T	10	0.066860676	0.09232	T	0.004334	0.10529	T	0.006	0.00375	0.304	0.27325	0.132336055621	0.12781	0.3551941987148705	0.35433	0.14966252543	0.16875	.	.	.	0.13289	0.46324	T	-0.363024	0.03962	T	-0.759235	0.03140	T	0.0861084538971601	0.10750	T	0.289471	0.05256	T	0.05351473	0.10138	0.043272506	0.05345	0.05351473	0.10137	0.043272506	0.05345	-3.3	0.13737	T	.	.	0.109	0.20819	B	.;.;.;.	.;.;.;.	-1.003951	0.00766	0.024	0.44551429495615197	0.03433	0.05128	0.10935	N	AEFGBI	0.072372	0.14440	N	-1.44507580938985	0.02256	0.09941076	-1.57937078274915	0.01781	0.08108524	0.999999988090285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	-8.38	0.00851	-2.017000	0.01533	-5.865000	0.01570	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0963:0.5994:0.1918:0.1126	5.641	0.16839	935	0.14827	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2498.33	37	chr13	102862591	.	T	G	2498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.463;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=0.428;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	18	0	1	0
chr13	103058298	103058298	G	T	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon2:c.C462A:p.D154E	Bile acid malabsorption, primary, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1948560	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00454487722076	.	0.000599042	0.0005	0	0	0	0	5.994e-05	0	0.0031	0.0003816	59	154602	rs199645187	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	0	0	0	0	0	0.0002	7.208e-06	0.0002	0.0035	0.0001	0.0001	3.856e-05	0.0002	0.0044	9.146e-05	7.702e-05	0.0029	0.0025	0	0	0	0	0	0	0	0	0	0.0044	1.0	0.00964	T	0.873	0.03286	T	0.002	0.09854	B	0.022	0.19653	B	0.000159	0.49130	D	0.212628	1	0.08975	N	0.98	0.24916	L	2.79	0.11189	T	-1.16	0.29727	N	0.139	0.13769	-0.9366	0.43149	T	0.013	0.04890	T	10	0.0072321	0.00165	T	0.004545	0.11189	T	0.068	0.19811	0.307	0.27806	0.181679512989	0.17746	0.8730110804772919	0.87267	0.0055018748095	0.00483	0.441857099533	0.30831	T	0.061378	0.31638	T	-0.602316	0.00141	T	-0.641012	0.09595	T	0.0224890033736154	0.00964	T	0.524848	0.17228	T	0.051858947	0.09585	0.045596402	0.06169	0.058256436	0.11699	0.055625025	0.09793	-4.084	0.25054	T	0.14574057973856006	0.16756	0.143	0.31355	B	.	.	1.134532	0.15214	11.68	0.38351435947877249	0.02581	0.63766	0.32192	D	AEFBI	0.300510	0.40928	N	-0.854492642495702	0.11940	0.5790783	-0.759672446958967	0.15485	0.8146271	3.2689430179324E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	-0.0989	0.12964	1.184000	0.31663	1.654000	0.27862	0.676000	0.76740	0.811000	0.29866	0.880000	0.27694	0.968000	0.53726	0.459:0.0:0.399:0.1421	4.937	0.13295	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1326.33	36	chr13	103058298	.	G	T	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.199;DP=814;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.745;SOR=0.755	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,113,1623	18	0	1	0
chr13	107866338	107866338	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.258_259insCAG:p.Q86_R87insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	.	0.0091	0.0050	0.0086	0.0013	0.0041	0.0124	0.0060	0.0061	0.0029199	76	26028	rs775886294	0.0085	0.0085	0.0086	0.0085	0.0271	0.0084	0.0083	0.0236	0.0222	0.0040	0.0083	0.0179	0.0012	0.0040	0.0271	0.0090	0.0108	0.0051	0.0081	0.0080	0.0085	0.0076	0.0123	0.0077	0.0075	0.0109	0.0103	0.0038	0.0518	0.0123	0.0165	0.0022	0.0039	0.0139	0.0098	0.0110	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2305.5	41	chr13	107866338	.	T	TCTG	2305.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.384;DP=859;ExcessHet=0.3672;FS=11.018;InbreedingCoeff=-0.088;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.033;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	17	0	2	0
chr13	109784544	109784544	C	A	exonic	IRS2	.	nonsynonymous SNV	IRS2:NM_003749:exon1:c.G1510T:p.G504C	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0722295296505	.	0.000399361	0.0007	0	0	0	0	0	0.0053	0.0061	0.000414	64	154602	rs554521999	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	2.768e-05	0	0.0006	0	0.0004	0.0038	0.0001	0.0001	8.998e-05	0.0002	0.0043	9.745e-05	8.259e-05	0.0029	0.0024	2.407e-05	0	0	0	0	0	0	0	0	0.0043	0.026	0.46910	D	0.04	0.50809	D	1.0	0.90584	D	0.989	0.78396	D	0.000119	0.50451	U	0.150426	0.993222	0.41873	D	2.895	0.83812	M	2.13	0.19588	T	-5.75	0.87760	D	0.708	0.71143	-1.0768	0.07983	T	0.096	0.36055	T	10	0.014217943	0.00299	T	0.07223	0.71478	D	0.146	0.38789	0.1	0.01484	0.514127983839	0.51054	0.5708543133895796	0.57013	.	.	0.834588050842	0.87266	D	0.881203	0.97511	D	-0.374671	0.03365	T	-0.311247	0.43525	T	0.292399771074497	0.24689	T	0.972453	0.90064	D	0.5277333	0.68702	0.353193	0.60884	0.5277333	0.68703	0.353193	0.60884	-11.835	0.84037	D	.	.	0.587	0.68330	P	.	.	4.407070	0.68149	25.2	0.9965410055191537	0.77505	0.99767	0.99318	D	AEFDBCIJ	0.666308	0.63482	D	0.447159652047827	0.64043	4.650105	0.380169724598571	0.60343	4.220797	0.999999992402894	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.62	3.62	0.40616	1.827000	0.38740	7.265000	0.57972	0.491000	0.22372	0.911000	0.31706	1.000000	0.68203	0.992000	0.67800	0.0:0.8929:0.0:0.1071	8.470	0.32139	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1486.33	35	chr13	109784544	.	C	A	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=775;ExcessHet=0;FS=4.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.746;SOR=1.207	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1411	18	0	1	0
chr13	110176691	110176691	C	T	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon35:c.G2903A:p.R968Q	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	YES	194108	Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|not_provided|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies	MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MedGen:C3661900|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0738064646741	7.7e-05	.	0.0001	9.632e-05	0.0002	0	0	0.0001	0	0.0002	0.0001229	19	154602	rs146288748	8.961e-05	8.961e-05	8.712e-05	9.213e-05	0.0005	7.689e-05	7.233e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0005	8.993e-05	6.623e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0003	4.956e-05	3.962e-05	8.876e-05	5.385e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.298	0.14595	T	0.655	0.06621	T	0.449	0.36046	B	0.364	0.43306	B	0.019126	0.27326	N	0.324291	0.999999	0.08975	N	0.86	0.21358	L	-3.23	0.93414	D	-0.62	0.18248	N	0.133	0.12913	-0.3453	0.73690	T	0.580	0.84880	D	10	0.16859084	0.31420	T	0.073806	0.71881	D	0.244	0.55061	.	.	0.620479444693	0.61740	0.6471600835659421	0.64651	0.506950961396	0.48887	0.288857698441	0.08756	T	0.393646	0.75300	T	-0.218638	0.18180	T	-0.255642	0.49258	T	0.040763618011765	0.03829	T	0.867913	0.56927	D	0.030958865	0.02851	0.049348976	0.07522	0.030958865	0.02851	0.049348976	0.07521	-3.626	0.18233	T	0.106254873563726	0.08520	0.071	0.03811	B	.	.	2.099930	0.26715	17.21	0.99299258518667199	0.58577	0.10989	0.16331	N	AEFBI	0.113444	0.22384	N	-0.361905948180846	0.26837	1.467763	-0.277309895507322	0.28846	1.611607	0.959937017326273	0.28457	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	6.06	4.34	0.51267	-0.349000	0.07779	1.748000	0.28453	0.599000	0.40250	0.000000	0.06391	0.933000	0.28592	0.655000	0.32830	0.13:0.6092:0.1257:0.1351	4.237	0.10082	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1625.33	36	chr13	110176691	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=812;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.394;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr13	110186475	110186475	G	A	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon26:c.C1807T:p.P603S	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	513327	not_provided|Hemorrhage,_intracerebral,_susceptibility_to|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Retinal_arterial_tortuosity|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	0.350169946826	.	.	1.689e-05	0	0	0	0	1.544e-05	0.0011	0	1.29e-05	2	154602	rs747585517	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0003	1.111e-05	9.34e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.619e-05	4.968e-05	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.049	0.39820	D	0.123	0.35582	T	0.954	0.54400	P	0.563	0.49647	P	0.000002	0.62929	D	0.060745	1	0.81001	D	2.36	0.67893	M	-4.06	0.96529	D	-4.49	0.78046	D	0.494	0.52740	0.928	0.96074	D	0.881	0.96035	D	10	0.7368567	0.74681	D	0.35017	0.92247	D	0.728	0.90457	0.471	0.54537	0.797550324333	0.79566	0.45766519602117356	0.45684	1.19757129527	0.80450	0.543149650097	0.44891	T	0.832095	0.96001	D	0.207399	0.74586	D	0.0601374	0.74253	D	0.935387015342712	0.60356	D	0.662034	0.27102	T	0.2562326	0.48661	0.3026562	0.56297	0.1854503	0.39908	0.30464837	0.56493	-7.026	0.54223	T	0.310055376845575	0.40791	0.088	0.11510	B	.	.	4.309602	0.65871	24.9	0.99478057955203736	0.66741	0.99048	0.90464	D	AEFDBI	0.928220	0.91209	D	0.611311158603558	0.73890	6.040452	0.582266993105831	0.73671	6.008442	0.999999999999883	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	6.928000	0.75662	11.715000	0.94718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.93	0.86058	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2529.33	38	chr13	110186475	.	G	A	2529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.29;SOR=0.668	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr13	110456857	110456857	-	GTGCGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.867_868insACGCAC:p.Q289_G290insTH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs761893253	0.0011	0.0006	0.0010	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0.0003	0.0010	0	0.0005	0	0.0012	0.0008	0.0018	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0004	0.0004	2.433e-05	0	0.0002	0.0006	0	0.0006	0	0.0005	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1366.29	87	chr13	110456857	.	C	CGTGCGT	1366.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=1393;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.01;MQRankSum=0.602;QD=13.53;ReadPosRankSum=0.242;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800:.	18	0	1	0
chr13	110456862	110456862	-	TGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.862_863insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCA:p.Q287_T288insMHGISPTDAWGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759360698	0.0010	0.0007	0.0009	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0003	0.0009	0	0.0004	0	0.0011	0.0007	0.0019	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.584e-05	0	0.0002	0.0006	0	0.0006	0	0.0006	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1439.29	42	chr13	110456862	.	G	GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	1439.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=1091;ExcessHet=0;FS=5.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.8;MQRankSum=-0.478;QD=14.25;ReadPosRankSum=-0.839;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	18	0	1	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	391.29	33	chr13	110456941	.	C	CGTG	391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=971;ExcessHet=0;FS=5.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.18;MQRankSum=6.06;QD=6.63;ReadPosRankSum=-6.041;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	18	0	1	0
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	frameshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGACGCCTGGGGTCCCACGCAGAC:p.Q261Hfs*110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.183e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0002	0.0002	0.0001	0.0002	9.332e-05	6.997e-05	8.256e-05	5.324e-05	0.0002	0	0	0.0008	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	4038.4	29	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCGTGGGGCTGATGCCG	4038.4	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.35;DP=963;ExcessHet=21.4373;FS=5.278;InbreedingCoeff=-0.5966;MLEAC=1;MLEAF=0.036;MQ=51.1;MQRankSum=1.28;QD=6.06;ReadPosRankSum=-3.45;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:58,0:58:0:.:.:0,0,0:.	13	0	1	5
chr13	110456968	110456968	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.757delG:p.D253Tfs*105	.	337	1183	1	1	0	3	0.00126636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753573551	9.671e-06	0.0004	0	1.7e-05	6.003e-06	2.57e-06	7.1e-07	.	.	0	0	0	0	0.0001	0	6.003e-06	0	0	0.0009	0.0026	0.0010	0.0008	0.0020	0.0007	0.0007	0.0010	0.0008	0.0003	0	0.0016	0.0011	0.0015	0.0008	0	0.0010	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	212.29	22	chr13	110456967	.	TC	T	212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=657;ExcessHet=0;FS=15.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.17;MQRankSum=0.935;QD=6.24;ReadPosRankSum=-4.06;SOR=1.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,108,1620:.	18	0	1	0
chr13	110457152	110457193	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.532_573del:p.G178_A191del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312441160	0.0011	0.0098	0.0013	0.0009	0.0039	0.0010	0.0010	0.0032	0.0029	0.0018	0.0012	0.0014	0.0039	0.0004	0.0019	0.0009	0.0017	0.0005	3.351e-05	0.0012	6.529e-05	0	0.0001	5.56e-06	2.08e-06	.	.	0	0	0.0001	0	0	0	0	3.458e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	372.26	8	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	372.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.78;DP=627;ExcessHet=0;FS=7.299;InbreedingCoeff=-0.0654;MLEAC=1;MLEAF=0.029;MQ=50.95;MQRankSum=-0.812;QD=24.82;ReadPosRankSum=0.403;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,102:.	16	0	1	2
chr13	110457193	110457193	C	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	*	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=2;MLEAF=0.077;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:13,0:13:0:.:.:0,0,232:.	11	0	2	6
chr13	110457193	110457193	C	G	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs9588171	0.0001	0.0012	6.902e-05	0.0002	0.0003	8.574e-05	7.405e-05	0.0001	0.0001	0	5.633e-05	0	0	0	0	0.0001	8.924e-05	0.0003	7.003e-05	6.326e-05	0.0001	0	0.0002	1.857e-05	1.015e-05	1.751e-05	7.17e-06	0	0	0.0002	0	0	0	0	9.99e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	G	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=3;MLEAF=0.115;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:13,0:13:0:.:.:0,0,232:.	11	0	2	6
chr13	110642422	110642422	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_024537:exon14:c.G1516A:p.E506K,CARS2:NM_001352252:exon15:c.G730A:p.E244K	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	389	1131	2	0	0	2	0.000883392	.	.	.	641560	Inborn_genetic_diseases|not_provided|Combined_oxidative_phosphorylation_defect_type_27	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.0067301076816	0.0002	0.000199681	0.0002	0.0004	0	0.0012	0	4.208e-05	0	0.0003	9.06e-05	14	154602	rs368624802	8.149e-05	8.414e-05	8.233e-05	8.065e-05	0.0007	6.933e-05	6.482e-05	0.0003	0.0002	0.0004	4.611e-05	0	0.0002	0	0.0007	3.979e-05	0.0004	0.0003	0.0001	0.0001	0.0002	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	0.0003	0	6.533e-05	0	0.0006	0	0.0034	4.41e-05	0	0.0002	0.333	0.13003	T	0.437	0.13441	T	0.135	0.27304	B	0.013	0.16460	B	0.014333	0.28565	N	0.403765	1	0.08975	N	2.045	0.56016	M	1.59	0.28836	T	-1.37	0.33998	N	0.243	0.27435	-1.0445	0.15971	T	0.050	0.21182	T	10	0.020424873	0.00470	T	0.00673	0.17784	T	0.009	0.00846	.	.	0.36893422563	0.36505	0.18897369520343577	0.18815	0.197323763495	0.22113	0.428788840771	0.29043	T	0.116054	0.43510	T	-0.492367	0.00631	T	-0.632648	0.10214	T	0.0151615425625169	0.00331	T	0.730127	0.34567	T	0.054062314	0.10320	0.06079956	0.11636	0.054062314	0.10319	0.06079956	0.11636	-5.233	0.39275	T	.	.	0.081	0.08368	B	.	.	1.192736	0.15842	12.14	0.95212753448433707	0.26421	0.13597	0.17946	N	AEFDBHCI	0.066372	0.12995	N	-0.805912415354061	0.13159	0.646309	-0.840002700998457	0.13528	0.7022639	0.999981623884906	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.12	2.36	0.28258	0.600000	0.23803	0.285000	0.16810	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.0:0.5973:0.2553:0.1474	7.208	0.25095	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr13	110642422	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=810;ExcessHet=0;FS=3.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.51;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	18	0	1	0
chr13	110683120	110683120	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_001352253:exon6:c.G586A:p.D196N,CARS2:NM_024537:exon6:c.G586A:p.D196N	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	425	1071	24	2	0	28	0.0129032	.	.	.	372648	Combined_oxidative_phosphorylation_defect_type_27|not_provided|not_specified	MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.183	.	0.0008	0.00559105	0.0037	9.645e-05	0.0004	0.0001	0	0.0018	0.0022	0.0202	0.0032406	501	154602	rs140082252	0.0018	0.0019	0.0012	0.0024	0.0191	0.0017	0.0017	0.0184	0.0180	6.205e-05	0.0002	0.0191	2.608e-05	0	0.0067	0.0003	0.0027	0.0191	0.0014	0.0014	0.0010	0.0017	0.0166	0.0012	0.0012	0.0136	0.0126	7.226e-05	0	0.0005	0.0228	0	0	0.0034	0.0005	0.0019	0.0166	0.118	0.28148	T	0.113	0.36901	T	0.973	0.57599	D	0.801	0.58220	P	0.000000	0.84330	D	0.000000	0.999593	0.47742	D	1.46	0.36832	L	1.19	0.37578	T	-3.56	0.68880	D	0.375	0.41656	-0.8956	0.48427	T	0.166	0.50389	T	10	0.01248005	0.00268	T	.	.	.	0.183	0.45592	.	.	0.595618126301	0.59240	0.8516638287777879	0.85128	0.36004956123	0.37690	0.491516232491	0.37649	T	0.577534	0.86113	D	-0.486362	0.00680	T	-0.456465	0.26985	T	0.0485474203814761	0.05241	T	0.931207	0.74412	D	0.35733855	0.57633	0.32977292	0.58853	0.35223567	0.57240	0.32805425	0.58697	-7.284	0.56081	T	0.2633904641875997	0.35534	0.159	0.35077	B	.	.	4.530673	0.71121	25.6	0.99873699423563034	0.95076	0.85523	0.44664	D	AEFDBCI	0.317831	0.42171	N	0.459975856206608	0.64773	4.739321	0.433699733967894	0.63678	4.606	0.999999989407597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.671000	0.46507	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:1.0:0.0:0.0	16.529	0.84200	988	0.01987	tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.022727	0.02632	2435.33	33	chr13	110683120	.	C	T	2435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.458;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.76;SOR=0.681	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D,ING1:NM_005537:exon2:c.G588C:p.E196D,ING1:NM_198217:exon2:c.G27C:p.E9D,ING1:NM_198219:exon2:c.G159C:p.E53D	Squamous cell carcinoma, head and neck, somatic	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1552.33	34	chr13	110719251	.	G	C	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.751;DP=748;ExcessHet=0;FS=1.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.619;SOR=0.538	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1123	18	0	1	0
chr13	110880097	110880099	CTA	-	exonic	ANKRD10	.	nonframeshift deletion	ANKRD10:NM_017664:exon6:c.801_803del:p.S269del	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	2.602e-05	0	0	0	0	4.687e-05	0	0	1.94e-05	3	154602	rs756283083	4.313e-05	4.309e-05	4.63e-05	3.992e-05	5.041e-05	3.445e-05	3.131e-05	3.98e-05	3.577e-05	0	2.236e-05	0	5.041e-05	0	0	5.04e-05	1.657e-05	3.479e-05	3.943e-05	3.94e-05	3.855e-05	4.035e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2396.77	56	chr13	110880096	.	GCTA	G	2396.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.396;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=30.96;ReadPosRankSum=1.49;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	18	1	0	0
chr13	112067734	112067742	GCCGGGGCG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.76_84del:p.A26_A28del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2551.29	33	chr13	112067733	.	CGCCGGGGCG	C	2551.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=774;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=31.89;ReadPosRankSum=1.32;SOR=0.419	GT:AD:DP:GQ:PL	0/1:15,65:80:99:2565,0,433	18	0	1	0
chr13	112068785	112068785	-	GGGCGC	exonic	SOX1	.	nonframeshift insertion	SOX1:NM_005986:exon1:c.1127_1128insGGGCGC:p.G381_V382insAG	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs895161167	2.64e-05	3.081e-05	3.56e-05	1.635e-05	0.0005	1.807e-05	1.549e-05	0.0003	0.0002	0.0001	0.0001	0	4.259e-05	0	0	9.198e-06	7.464e-05	0.0005	3.431e-05	3.344e-05	2.681e-05	4.217e-05	0.0005	1.303e-05	8.29e-06	8.012e-05	3.36e-05	5.041e-05	0	0	0	0	0	0	1.523e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1226.29	33	chr13	112068785	.	A	AGGGCGC	1226.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=705;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.04;ReadPosRankSum=0.193;SOR=1.263	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1169	18	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del	.	440	1071	10	1	0	12	0.00557103	.	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4622.29	247	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	4622.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.664;DP=1887;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=0.303;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	18	0	1	0
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	19298.6	264	chr13	112547532	.	ACGTGCATGGGAAAGT	*	19298.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1944;ExcessHet=0.0506;FS=1.778;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=1.14;QD=19.57;ReadPosRankSum=0.285;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	18	0	1	0
chr13	112547535	112547535	T	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1352.82	264	chr13	112547535	.	T	*	1352.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.645;DP=2091;ExcessHet=0.1504;FS=0.529;InbreedingCoeff=0.2083;MLEAC=5;MLEAF=0.132;MQ=59.9;MQRankSum=1.43;QD=1.19;ReadPosRankSum=-1.701;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,126:267:99:0|1:112547505_C_T:4636,0,5295:112547505	15	1	3	0
chr13	112547538	112547553	ATGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	18480.0	264	chr13	112547538	.	ATGGGAAAGTCGCGCG	*	18480.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=5;MLEAF=0.132;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,131:214:99:1|0:112547505_C_T:8473,3381,4811:112547505	15	1	3	0
chr13	112547538	112547538	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1249_1250insCGCGCGACTTTCCCA:p.P416_M417insTRDFP	.	453	433	214	38	384	674	0.250865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0002	0.0011	0.0010	0	0.0002	0	0.0007	0.0002587	40	154602	rs1207556062	0.0012	0.0014	0.0012	0.0013	0.0077	0.0012	0.0011	0.0069	0.0066	0.0002	0.0030	6.233e-05	0.0077	0.0018	0.0010	0.0009	0.0015	0.0013	0.0024	0.0024	0.0023	0.0024	0.0090	0.0021	0.0021	0.0077	0.0072	0.0006	0	0.0090	0.0003	0.0049	0.0019	0	0.0019	0.0041	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	18480.0	264	chr13	112547538	.	A	ATGGGAAAGTCGCGCG	18480.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:214:99:1|0:112547505_C_T:8473,8627,9499:112547505	18	0	1	0
chr13	113044858	113044858	C	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon1:c.C134G:p.T45R,MCF2L:NM_001366646:exon1:c.C134G:p.T45R	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00253447750239	.	0.00119808	0.0013	0	0.0006	0	0	0.0005	0	0.0066	0.0010414	161	154602	rs200111582	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0063	0.0061	2.987e-05	0.0006	0.0035	2.519e-05	0.0002	0.0033	7.645e-05	0.0008	0.0068	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	7.216e-05	0	0.0004	0.0029	0	9.42e-05	0	0.0001	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-1.27	0.36189	N	0.18	0.19459	-1.0190	0.24041	T	0.051	0.21533	T	8	0.0039972663	0.00077	T	0.002534	0.05065	T	0.025	0.05312	0.16	0.06396	0.179529687257	0.17594	.	.	.	.	.	.	.	.	.	.	-0.658608	0.00064	T	-0.715654	0.05008	T	0.00932054833725134	0.00119	T	0.39556	0.09932	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11510	B	.;.	.;.	-0.163453	0.03281	0.563	0.40551858735703439	0.02869	0.04407	0.09994	N	AEFDGBCI	0.107016	0.21334	N	-1.16372843866563	0.05558	0.253669	-1.27815412306527	0.04727	0.2236351	0.999999745764187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.28	-0.89	0.10041	-2.486000	0.01054	-2.921000	0.03228	-0.929000	0.02155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2084:0.4165:0.0:0.3751	2.711	0.04855	994	0.00715	.;CRAL-TRIO lipid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3672.83	37	chr13	113044858	.	C	G	3672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.05;DP=887;ExcessHet=0.119;FS=0.926;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.751;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	17	0	2	0
chr13	113075100	113075100	C	T	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon9:c.C1105T:p.R369W,MCF2L:NM_001366646:exon9:c.C1105T:p.R369W,MCF2L:NM_001112732:exon11:c.C1219T:p.R407W,MCF2L:NM_001320815:exon11:c.C1213T:p.R405W,MCF2L:NM_001320816:exon11:c.C1231T:p.R411W,MCF2L:NM_001320817:exon11:c.C1213T:p.R405W,MCF2L:NM_001366644:exon11:c.C1132T:p.R378W,MCF2L:NM_024979:exon11:c.C1213T:p.R405W	.	423	1097	2	0	0	2	0.000910747	.	.	.	702609	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.225	.	0.0070	0.0133786	0.0069	0.0235	0.0300	0.0203	0.0003	0.0004	0.0056	0.0016	0.0064553	998	154602	rs74926660	0.0031	0.0031	0.0034	0.0029	0.0508	0.0031	0.0030	0.0489	0.0482	0.0249	0.0257	0	0.0508	0.0002	0.0010	0.0001	0.0046	0.0015	0.0087	0.0088	0.0091	0.0083	0.0267	0.0083	0.0082	0.0231	0.0217	0.0225	0	0.0127	0	0.0267	0	0	0.0003	0.0137	0.0025	0.001	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.196041	0.16722	N	0.622889	0.999999	0.08975	N	2.85	0.82803	M	2.24	0.17923	T	-6.23	0.90490	D	0.305	0.39153	-1.0841	0.06572	T	0.047	0.20116	T	10	0.007579595	0.00172	T	.	.	.	0.237	0.54074	.	.	0.442105453903	0.43831	0.391633898260644	0.39078	0.850202333016	0.68492	0.297303408384	0.10000	T	0.200609	0.55824	T	-0.439569	0.01301	T	-0.351538	0.39030	T	0.0666412395653882	0.08172	T	0.992151	0.98441	D	0.30530867	0.53376	0.40855038	0.65169	0.30530867	0.53376	0.40855038	0.65169	-6.353	0.49782	T	.	.	0.122	0.25592	B	.;.;.;.;.;.	.;.;.;.;.;.	3.746963	0.53689	23.4	0.99900700840135648	0.97275	0.68570	0.33852	D	AEFDBI	0.528010	0.54971	D	0.38452634315618	0.60583	4.248836	0.272577015205012	0.53943	3.561066	0.958468407507523	0.28364	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	2.301000	0.43289	0.959000	0.22978	-0.184000	0.09925	0.266000	0.25007	0.000000	0.08366	0.014000	0.10232	0.0:0.8458:0.1542:0.0	13.745	0.62351	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3180.81	35	chr13	113075100	.	C	T	3180.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.88;SOR=1.125	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1374	18	1	0	0
chr13	113149320	113149320	G	A	exonic	F10	.	nonsynonymous SNV	F10:NM_001312674:exon7:c.G1138A:p.V380I,F10:NM_000504:exon8:c.G1270A:p.V424I	Factor X deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.115126011505	7.7e-05	0.000399361	3.321e-05	9.711e-05	0.0002	0	0	1.516e-05	0	0	3.88e-05	6	154602	rs201301913	5.408e-05	5.404e-05	6.265e-05	4.541e-05	0.0004	4.413e-05	4.085e-05	0.0002	0.0002	2.987e-05	0.0004	0	0	0	0	5.036e-05	9.936e-05	0	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	7.214e-05	0	0.0016	0	0	0	0	7.351e-05	0.0005	0	0.176	0.22312	T	0.174	0.30045	T	0.917	0.50750	P	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.88	0.49984	L	-2.49	0.89145	D	-0.83	0.22727	N	0.301	0.34012	0.485	0.90341	D	0.764	0.91974	D	10	0.148693	0.28155	T	0.115126	0.79420	D	0.487	0.77528	.	.	0.882292857207	0.88113	0.7202456625854737	0.71967	1.3001511109	0.82996	0.513878583908	0.40766	T	0.540708	0.84269	D	-0.138079	0.30196	T	-0.101967	0.63246	T	0.137266248464584	0.16037	T	0.886911	0.61435	D	0.4217307	0.62207	0.25772172	0.51493	0.4217307	0.62207	0.25772172	0.51493	-5.818	0.44731	T	0.3926492551740238	0.48561	0.121	0.25067	B	.	.	3.948838	0.57831	23.9	0.99418778248862993	0.63645	0.94745	0.62184	D	AEFDGBCI	0.934659	0.92835	D	0.489620854939774	0.66482	4.955856	0.441261339353195	0.64158	4.664604	1.0	0.98316	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.38	5.38	0.77279	5.676000	0.67802	7.389000	0.58501	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.151	0.93476	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1973.33	35	chr13	113149320	.	G	A	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=2.26;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1374	18	0	1	0
chr13	113325836	113325838	CGA	-	exonic	GRTP1	.	nonframeshift deletion	GRTP1:NM_001286732:exon7:c.744_746del:p.R249del,GRTP1:NM_024719:exon7:c.744_746del:p.R249del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0001	0.0003	0.0007	0	0	9.1e-05	0	0	0.0001423	22	154602	rs533741127	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	7.653e-05	0	0	0.0009	0.0001	0.0004	0	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0002	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.005102	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2043.29	33	chr13	113325835	.	CCGA	C	2043.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.855;DP=769;ExcessHet=0;FS=2.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=2.13;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1273:.	18	0	1	0
chr13	113325839	113325839	A	T	exonic	GRTP1	.	nonsynonymous SNV	GRTP1:NM_001286732:exon7:c.T743A:p.L248H,GRTP1:NM_024719:exon7:c.T743A:p.L248H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.0679734941843	.	0.000998403	0.0001	0.0003	0.0007	0	0	9.111e-05	0	0	0.0001617	25	154602	rs201928660	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	7.654e-05	0	0	0.0009	0.0001	0.0004	0	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0002	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000042	0.53742	D	0.073346	1	0.81001	D	3.69	0.94526	H	1.39	0.33842	T	-6.99	0.93621	D	0.935	0.94077	0.017	0.82590	D	0.296	0.66792	T	10	0.26545405	0.44042	T	0.067973	0.70319	D	0.618	0.85144	.	.	0.777286459587	0.77523	0.8867055204469152	0.88639	0.627220089827	0.56825	0.818237900734	0.84758	D	0.194154	0.54984	T	0.0496337	0.58296	T	0.213014	0.83818	D	0.746134757995605	0.43071	D	0.907009	0.67171	D	0.87023133	0.88879	0.8050071	0.88584	0.87023133	0.88880	0.8050071	0.88584	-13.107	0.89798	D	.	.	0.759	0.83043	P	.;.;.	.;.;.	5.052496	0.84159	28.2	0.98468481787767492	0.41826	0.95456	0.64793	D	AEFDBCI	0.916621	0.88307	D	0.891362425326409	0.91329	10.82923	0.754889691078964	0.86523	8.916226	0.999999999996299	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.82	4.82	0.61641	8.379000	0.90036	10.796000	0.83778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	1.0:0.0:0.0:0.0	14.424	0.66775	982	0.03397	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005102	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2046.33	33	chr13	113325839	.	A	T	2046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.302;DP=764;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=2.04;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1273:.	18	0	1	0
chr13	113403713	113403713	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C4477T:p.P1493S,LOC101928841:NM_001375393:exon2:c.C4477T:p.P1493S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs183860036	0.0008	0.0006	0.0008	0.0008	0.0180	0.0008	0.0007	0.0165	0.0160	0.0180	0.0029	0.0028	0	0.0003	0.0058	0.0003	0.0019	0.0002	0.0053	0.0053	0.0055	0.0051	0.0160	0.0050	0.0049	0.0150	0.0146	0.0160	0	0.0047	0.0017	0	0.0006	0	0.0006	0.0061	0	.	.	.	0.1	0.38742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.003664136	0.00067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010074	0.09129	T	.	.	.	.	.	.	.	.	.	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	1.314017	0.17173	13.00	0.66050824924070117	0.07947	0.04024	0.09458	N	AEFBI	.	.	.	.	.	.	.	.	.	0.997883848783634	0.36150	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0529059	0.11492	3.98	3.13	0.35090	0.032000	0.13620	-0.054000	0.12508	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1101:0.0:0.8899:0.0	8.607	0.32940	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	770.33	36	chr13	113403713	.	G	A	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.387;DP=800;ExcessHet=0;FS=2.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.264;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3499.02	135	chr13	113404039	.	G	*	3499.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.361;DP=2959;ExcessHet=0.3672;FS=0.571;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=1.22;QD=4.46;ReadPosRankSum=1.26;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800:.	18	0	1	0
chr13	113404053	113404053	C	0	exonic	LOC101928841	.	.	.	.	916	572	5	1	28	35	0.00608167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1487.43	135	chr13	113404053	.	C	*	1487.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=2541;ExcessHet=0.119;FS=1.444;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=-0.541;QD=4.51;ReadPosRankSum=1.75;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800:.	18	0	1	0
chr13	113404628	113404628	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G3562A:p.A1188T,LOC101928841:NM_001375393:exon2:c.G3562A:p.A1188T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs184423615	0.0008	0.0007	0.0008	0.0008	0.0174	0.0008	0.0008	0.0160	0.0155	0.0174	0.0027	0.0026	0.0004	0.0003	0.0056	0.0003	0.0019	0.0001	0.0052	0.0052	0.0053	0.0050	0.0157	0.0049	0.0048	0.0147	0.0143	0.0157	0	0.0044	0.0017	0.0004	0.0006	0	0.0006	0.0062	0	.	.	.	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.0039473474	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027902	0.20332	T	.	.	.	.	.	.	.	.	.	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12560	B	.	.	0.913035	0.12875	9.387	0.78862103937583006	0.12485	0.04095	0.09560	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999972553987915	0.50053	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0577867	0.13796	1.09	0.191	0.14411	0.105000	0.15169	-0.588000	0.08339	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6905:0.0:0.3095	3.198	0.06245	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	69	chr13	113404628	.	C	T	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.998;DP=1549;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.625;SOR=0.537	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	18	0	1	0
chr13	113404796	113404796	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G3394A:p.D1132N,LOC101928841:NM_001375393:exon2:c.G3394A:p.D1132N	.	783	738	1	0	0	1	0.000677048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.39492	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.07025936	0.10197	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006884	0.06306	T	.	.	.	.	.	.	.	.	.	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	0.705175	0.10739	7.429	0.74573257084148314	0.10746	0.00272	0.01477	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999932096726322	0.46732	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0577867	0.13796	2.03	-0.0172	0.13294	-0.976000	0.03896	-3.712000	0.02587	-1.174000	0.01395	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7123:0.0:0.2877	6.385	0.20759	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2424.33	69	chr13	113404796	.	C	T	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=1641;ExcessHet=0;FS=2.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=2.69;SOR=0.544	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	18	0	1	0
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	711.33	69	chr13	113405323	.	G	A	711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1010;ExcessHet=0;FS=4.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.121;SOR=1.058	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr13	113405813	113405813	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G2377A:p.E793K,LOC101928841:NM_001375393:exon2:c.G2377A:p.E793K	.	937	584	1	0	0	1	0.000855432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs548005692	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	4.354e-05	0.0002	0	0	4.733e-05	0.0003	0.0002	9.161e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	6.533e-05	0	0.0002	9.409e-05	0	0.0003	0	0.0004	.	.	.	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.03110236	0.01242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017455	0.14237	T	.	.	.	.	.	.	.	.	.	0.474753	0.14169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20235	B	.	.	-0.698311	0.01325	0.073	0.78896266569985529	0.12500	0.02238	0.06495	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999936675	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.044551	0.00207	1	0.079188	0.02158	0	0.0525523	0.11250	4.16	-8.32	0.00873	-2.220000	0.01300	0.081000	0.14390	-0.360000	0.05510	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.4186:0.3455:0.2359	9.45	0.37885	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	69	chr13	113405813	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=1087;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=1.33;SOR=0.915	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1242,0,874	18	0	1	0
chr13	113406355	113406355	C	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G1835T:p.G612V,LOC101928841:NM_001375393:exon2:c.G1835T:p.G612V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs189561106	0.0005	0.0003	0.0005	0.0004	0.0083	0.0004	0.0004	0.0074	0.0070	0.0083	0.0011	0.0006	0	0.0004	0.0024	0.0003	0.0008	5.132e-05	0.0026	0.0026	0.0026	0.0026	0.0079	0.0024	0.0023	0.0072	0.0069	0.0079	0	0.0010	0.0012	0	0.0006	0	0.0004	0.0038	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.004910022	0.00105	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012793	0.11182	T	.	.	.	.	.	.	.	.	.	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44643	B	.	.	1.363331	0.17728	13.33	0.79582207452569786	0.12807	0.01854	0.05730	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999918160119636	0.45857	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0577867	0.13796	3.99	1.24	0.20416	0.125000	0.15577	0.033000	0.13759	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1526:0.3602:0.299:0.1882	1.629	0.02564	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2416.33	69	chr13	113406355	.	C	A	2416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.381;DP=1422;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.86;SOR=0.588	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr13	113510409	113510409	C	T	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349742:exon6:c.C1018T:p.R340W,TMCO3:NM_001349745:exon6:c.C1018T:p.R340W,TMCO3:NM_001349741:exon7:c.C1210T:p.R404W,TMCO3:NM_001349744:exon7:c.C1210T:p.R404W,TMCO3:NM_017905:exon7:c.C1210T:p.R404W	.	.	.	.	.	.	.	.	.	.	.	2357503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0409468977604	.	.	8.304e-05	0	0	0.0005	0	7.528e-05	0	6.299e-05	7.76e-05	12	154602	rs752452729	9.245e-05	9.235e-05	8.994e-05	9.5e-05	0.0001	7.967e-05	7.439e-05	9.207e-05	8.615e-05	2.991e-05	6.717e-05	0	0.0001	0	0	0.0001	4.976e-05	3.484e-05	3.944e-05	3.941e-05	2.57e-05	5.383e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000002	0.62929	D	0.059161	0.997639	0.44054	D	2.135	0.59519	M	1.15	0.38236	T	-1.83	0.47683	N	0.757	0.81758	-0.9857	0.33663	T	0.148	0.47326	T	10	0.21024647	0.37413	T	0.040947	0.59658	D	0.237	0.54074	0.577	0.70217	0.162503812791	0.15892	0.7042283382936141	0.70364	0.890069565383	0.70193	0.584398269653	0.50705	T	0.020178	0.15936	T	-0.261083	0.12773	T	-0.31248	0.43392	T	0.282185077179066	0.24263	T	0.966603	0.88252	D	0.1412473	0.32555	0.07052965	0.14995	0.1412473	0.32555	0.07052965	0.14995	-10.844	0.82802	D	.	.	0.146	0.45421	B	.;.;.;.	.;.;.;.	4.669736	0.74619	26.2	0.9956574375050945	0.72075	0.90754	0.52198	D	AEFDBI	0.534598	0.55357	D	-0.0698350893667075	0.38721	2.272212	-0.221649524557981	0.30762	1.734828	0.984648065706452	0.30751	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	2.12	0.26372	5.450000	0.66369	3.188000	0.36689	-0.231000	0.07715	1.000000	0.71638	0.997000	0.33255	0.004000	0.06068	0.2771:0.6458:0.0:0.0772	8.075	0.29871	940	0.13648	Cation/H+ exchanger;.;.;Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1088.33	33	chr13	113510409	.	C	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=731;ExcessHet=0;FS=5.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.063;SOR=1.524	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr13	113654922	113654922	C	T	exonic	ATP4B	.	nonsynonymous SNV	ATP4B:NM_000705:exon2:c.G133A:p.V45M	.	435	1052	35	0	0	35	0.0163628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	.	0.0018	0.00219649	0.0046	0.0002	0.0011	0	0.0005	0.0025	0.0110	0.0218	0.0039197	606	154602	rs142885298	0.0029	0.0029	0.0022	0.0035	0.0213	0.0028	0.0028	0.0205	0.0202	0.0003	0.0013	0.0172	5.038e-05	0.0004	0.0206	0.0013	0.0043	0.0213	0.0020	0.0020	0.0017	0.0023	0.0182	0.0018	0.0017	0.0151	0.0140	0.0002	0	0.0010	0.0144	0.0006	0.0004	0.0068	0.0017	0.0047	0.0182	0.026	0.46910	D	0.091	0.40110	T	0.991	0.64070	D	0.905	0.64260	P	0.024629	0.26229	N	0.288040	0.615678	0.32660	D	2.56	0.74772	M	1.17	0.37910	T	-0.29	0.11728	N	0.219	0.24510	-0.4967	0.68769	T	0.191	0.54286	T	10	0.00927794	0.00210	T	.	.	.	0.195	0.47612	.	.	0.564651752942	0.56128	0.5015984315122252	0.50081	0.428974533343	0.43203	0.620959222317	0.55864	T	0.121961	0.44530	T	-0.470027	0.00850	T	-0.431682	0.29744	T	0.0578959192080709	0.06833	T	0.856014	0.54441	D	0.11131314	0.26305	0.11781726	0.28442	0.11131314	0.26305	0.11781726	0.28441	-6.068	0.46844	T	.	.	0.123	0.25817	B	.	.	4.616775	0.73272	26.0	0.99884775725049157	0.96049	0.76793	0.37692	D	AEFDGBHCI	0.369389	0.45614	N	0.451620711280182	0.64295	4.680807	0.364439385245441	0.59383	4.115586	0.999998593535094	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.02	3.15	0.35301	2.926000	0.48587	4.576000	0.43900	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8322:0.1678:0.0	12.697	0.56378	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.006793	0.008772	0.000000	0.000000	0.021341	0.011364	0.05263	2804.83	34	chr13	113654922	.	C	T	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.201;DP=966;ExcessHet=0.119;FS=1.436;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.069;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	17	0	2	0
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L,TMEM255B:NM_182614:exon4:c.G286C:p.V96L	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022681	0.015152	0.014946	0.014620	0.000000	0.025862	0.021472	0.064394	0.05263	3265.83	34	chr13	113795181	.	G	C	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=963;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.283;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	17	0	2	0
chr13	113973975	113973975	G	T	exonic	C13orf46	.	nonsynonymous SNV	C13orf46:NM_001365455:exon1:c.C23A:p.T8K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13268769	0.25254	T	.	.	.	.	.	.	.	.	.	0.021138606756350438	0.02066	.	.	.	.	.	0.033707	0.23026	T	.	.	.	.	.	.	.	.	.	.	.	.	0.041527513	0.06132	0.11816126	0.28522	0.041527513	0.06132	0.11816126	0.28522	-3.043	0.10651	T	.	.	0.243	0.47741	B	.	.	1.131430	0.15179	11.65	0.73668406479087556	0.10412	0.06634	0.12651	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999947594726716	0.47345	0.062308	0.01283	0	0.037452	0.00068	0	0.074216	0.02223	0	0.089874	0.02613	0	0.126772	0.25351	4.56	-0.865	0.10122	0.421000	0.20999	0.892000	0.22480	0.616000	0.49467	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4272:0.1665:0.4064:0.0	4.352	0.10597	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	32.45	1	chr13	113973975	.	G	T	32.45	.	AC=2;AF=0.059;AN=34;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.3355;MLEAC=1;MLEAF=0.029;MQ=60;QD=16.23;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,134	16	1	0	2
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	121.62	54	chr13	114301925	.	G	A	121.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.096;DP=1152;ExcessHet=0.119;FS=111.238;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.063;MQ=52.91;MQRankSum=-0.783;QD=0.92;ReadPosRankSum=0.896;SOR=7.327	GT:AD:DP:GQ:PL	0/0:61,0:61:39:0,39,1652	14	0	2	3
chr13	114301961	114301961	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G635A:p.R212K,UPF3A:NM_001353646:exon7:c.G635A:p.R212K,UPF3A:NM_001353649:exon7:c.G623A:p.R208K,UPF3A:NM_001353647:exon8:c.G635A:p.R212K,UPF3A:NM_001353648:exon8:c.G635A:p.R212K,UPF3A:NM_080687:exon8:c.G1139A:p.R380K,UPF3A:NM_001353645:exon9:c.G635A:p.R212K,UPF3A:NM_001353650:exon9:c.G623A:p.R208K,UPF3A:NM_023011:exon9:c.G1238A:p.R413K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00234821491854	.	.	9.863e-06	0	0.0001	0	0	0	0	0	3.84e-05	1	26028	rs759100983	4.12e-06	4.788e-06	1.366e-06	6.906e-06	3.499e-05	1.48e-06	9.7e-07	9.29e-06	4.58e-06	0	0	0	0	0	0	0	4.994e-05	3.499e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.703	0.04134	T	1.0	0.01155	T	0.006	0.14655	B	0.003	0.12992	B	0.012620	0.29115	N	0.394400	1	0.08975	N	0.48	0.13178	N	1.51	0.30937	T	0.38	0.04776	N	0.151	0.23125	-1.0434	0.16294	T	0.039	0.16849	T	9	0.046508998	0.03852	T	0.002348	0.04562	T	0.078	0.22779	0.356	0.35734	0.401612077098	0.39776	0.06311413821706362	0.06250	0.17504778122	0.19705	0.287961244583	0.08626	T	3.09E-4	0.00078	T	-0.355202	0.04409	T	-0.748	0.03564	T	0.0395424161502822	0.03608	T	0.532847	0.17838	T	0.024213558	0.01230	0.028235402	0.01041	0.024213558	0.01230	0.028235402	0.01041	-4.139	0.26882	T	.	.	0.099	0.16756	B	.;.	.;.	0.084081	0.04895	1.477	0.50291753468666611	0.04358	0.10697	0.16129	N	AEFBI	0.057523	0.10724	N	-0.938258798303083	0.09957	0.4736444	-0.986646340486607	0.10085	0.5057153	0.817823663889522	0.24470	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	-2.11	0.06787	1.111000	0.30773	1.072000	0.23814	0.676000	0.76740	0.734000	0.28964	0.037000	0.21475	0.003000	0.05239	0.5026:0.281:0.2165:0.0	5.401	0.15593	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	41	chr13	114301961	.	G	A	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=801;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.07;MQRankSum=-1.731;QD=12.9;ReadPosRankSum=0.631;SOR=0.586	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr13	114324909	114324909	C	T	exonic	CHAMP1	.	nonsynonymous SNV	CHAMP1:NM_001164144:exon3:c.C1067T:p.P356L,CHAMP1:NM_001164145:exon3:c.C1067T:p.P356L,CHAMP1:NM_032436:exon3:c.C1067T:p.P356L	Mental retardation, autosomal dominant 40, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0040245210283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.875e-06	1.159e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.927	0.51527	P	0.521	0.48239	P	0.000014	0.62929	D	0.000000	0.999608	0.47795	D	2.005	0.54552	M	3.59	0.04544	T	-3.51	0.68298	D	0.298	0.33687	-1.1391	0.01392	T	0.027	0.11529	T	9	0.34985852	0.51870	T	0.004025	0.09556	T	0.119	0.33137	0.455	0.51938	0.179529687257	0.17594	0.2749438809689069	0.27407	0.511620293781	0.49235	0.714735984802	0.69279	T	0.611303	0.87685	D	-0.110887	0.34623	T	-0.397058	0.33727	T	0.969523787498474	0.68620	D	0.858514	0.54939	D	0.17547247	0.38407	0.22663392	0.47647	0.17547247	0.38407	0.22663392	0.47646	-6.622	0.51221	T	.	.	0.254	0.50545	B	.;.	.;.	4.212958	0.63657	24.6	0.99871338530620346	0.94902	0.42263	0.26839	N	AEFDGBHI	0.163407	0.28969	N	0.345047864916832	0.58478	4.020342	0.345815687534366	0.58255	3.995135	0.99999999859597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	4.911000	0.63024	5.737000	0.49553	0.599000	0.40250	0.830000	0.30133	0.999000	0.35428	0.949000	0.49496	0.1382:0.8618:0.0:0.0	15.594	0.76307	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	5235.33	37	chr13	114324909	.	C	T	5235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=1110;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.635;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr14	18601137	18601137	G	T	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G21T:p.Q7H	.	583	931	8	0	0	8	0.00427807	.	.	.	2340906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.207227403229	.	0.000199681	0.0007	0.0008	0	0	0	0.0011	0	0	3.84e-05	1	26028	rs200891589	0.0003	0.0023	0.0003	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0014	0.0005	0.0002	0.0002	3.796e-05	0.0010	0.0002	0.0004	0.0003	0.0007	0.0019	0.0007	0.0007	0.0015	0.0006	0.0006	0.0012	0.0011	0.0015	0	0.0005	0.0003	0.0002	0	0.0040	0.0004	0.0005	0.0012	0.173	0.22573	T	0.102	0.38450	T	0.688	0.41582	P	0.096	0.30313	B	.	.	.	.	.	.	.	0	0.06538	N	9.8	0.00004	T	-0.36	0.13035	N	0.121	0.11197	-1.2614	0.00003	T	0.000	0.00039	T	6	0.035033703	0.01735	T	0.207227	0.87081	D	0.024	0.04979	0.347	0.34274	0.398937966296	0.39508	0.09494894154865142	0.09426	2.33439091465	0.96697	0.436872392893	0.30150	T	0.001048	0.00572	T	-0.585323	0.00179	T	-0.69154	0.06301	T	0.0109518641914826	0.00157	T	0.256274	0.03991	T	0.108425595	0.25635	0.10012523	0.23930	0.108425595	0.25635	0.10012523	0.23929	-4.225	0.27112	T	.	.	0.112	0.21766	B	.	.	0.217048	0.05997	2.440	0.48232932276014812	0.04008	0.00947	0.03649	N	AEFI	0.040772	0.06111	N	-1.14116108133276	0.05927	0.2714952	-1.30790841229775	0.04327	0.2038571	1.11926246149775E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.264000	0.08683	.	.	0.221000	0.18078	0.000000	0.06391	0.126000	0.22952	0.037000	0.13953	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1088.33	33	chr14	18601137	.	G	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.61;MQRankSum=-2.724;QD=15.77;ReadPosRankSum=0.299;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr14	18601706	18601706	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G590A:p.G197E	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00462199078438	.	.	0.0007	0.0010	0.0095	0	0	0.0002	0	0	3.84e-05	1	26028	rs748013299	1.098e-05	0.0003	1.092e-05	1.103e-05	0.0002	6.5e-06	5.26e-06	0.0001	7.382e-05	0	0.0001	0	0.0002	0	0	9.001e-07	0	1.162e-05	0.0004	0.0020	0.0003	0.0005	0.0032	0.0003	0.0003	0.0025	0.0022	4.961e-05	0	0.0032	0	0.0010	0	0	7.505e-05	0.0005	0.0009	0.069	0.35537	T	0.399	0.15059	T	0.781	0.44300	P	0.43	0.45392	B	0.000707	0.42254	D	0.000000	.	.	.	1.675	0.43121	L	8.8	0.00050	T	-4.77	0.80425	D	0.122	0.11340	-1.0080	0.27541	T	0.000	0.00114	T	9	0.011298597	0.00248	T	0.004622	0.11440	T	0.065	0.18881	.	.	0.404793603054	0.40094	0.06917515607333054	0.06855	3.52078213034	0.99770	0.306855976582	0.11431	T	0.014086	0.12058	T	-0.250975	0.13978	T	-0.598285	0.12955	T	0.146298558948791	0.16805	T	0.518348	0.16810	T	0.35167694	0.57197	0.23873909	0.49204	0.35167694	0.57197	0.23873909	0.49203	-7.202	0.55496	T	.	.	0.128	0.27283	B	.	.	2.292536	0.29327	18.09	0.86779382392739934	0.16767	0.00328	0.01715	N	AEFI	0.026172	0.01919	N	-0.831145875182917	0.12519	0.6107228	-1.03730447137808	0.08973	0.4439269	1.23754932233703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.252000	0.02990	.	.	0.221000	0.18078	0.000000	0.06391	0.978000	0.30204	0.210000	0.22183	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	142.83	252	chr14	18601706	.	G	A	142.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.53;DP=5179;ExcessHet=0.119;FS=14.272;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.7;MQRankSum=-2.711;QD=0.27;ReadPosRankSum=1.45;SOR=2.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,34:301:88:0|1:18601706_G_A:88,0,9531:18601706	17	0	2	0
chr14	18967563	18967573	GTGGTGCCGCC	-	exonic	POTEM	.	frameshift deletion	POTEM:NM_001145442:exon1:c.78_88del:p.W27Lfs*21	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0009	0.0006	0.0009	0.0038	0.0007	0.0007	0.0035	0.0033	0.0005	0.0006	0.0007	0.0017	0.0009	0.0016	0.0004	0.0008	0.0038	6.998e-05	5.652e-05	8.926e-05	4.887e-05	0.0003	3.01e-05	2.048e-05	1.812e-05	7.4e-06	0.0001	0	0	0	0.0003	0.0002	0	4.896e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	285.3	79	chr14	18967562	.	AGTGGTGCCGCC	A	285.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.194;DP=950;ExcessHet=0;FS=11.254;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=27.17;MQRankSum=0.488;QD=3.61;ReadPosRankSum=-1.398;SOR=0.039	GT:AD:DP:GQ:PL	0/0:28,0:28:72:0,72,1080	18	0	1	0
chr14	18968008	18968008	T	C	splicing	POTEM	NM_001145442:exon1:c.521+2T>C	.	.	.	.	.	.	.	.	.	.	0.9263	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438193924	3.339e-06	6.295e-06	3.338e-06	3.341e-06	0.0003	7.8e-07	5.3e-07	.	.	3.933e-05	0	0	0	0	0.0003	1.126e-06	0	1.29e-05	0	6.581e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994464	0.23512	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.398751	0.02359	T	-0.810554	0.01653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.147278	0.42591	21.6	0.86766911013387182	0.16758	0.39936	0.26324	N	AEFI	.	.	.	0.333256567452303	0.57863	3.955417	-0.0362131689225817	0.38092	2.239405	2.15982679078891E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0481084	0.07394	1.27	1.27	0.20595	2.121000	0.41601	.	.	0.304000	0.19002	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.0:1.0	4.725	0.12314	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	112.33	24	chr14	18968008	.	T	C	112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.22;MQRankSum=0.579;QD=4.01;ReadPosRankSum=-2.257;SOR=0.243	GT:AD:DP:GQ:PL	0/0:19,0:19:48:0,48,720	18	0	1	0
chr14	18988290	18988290	T	A	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon9:c.T1278A:p.H426Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00106492131931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.361	0.16914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.25	0.11008	N	0.073	0.04668	-0.9689	0.37427	T	0.029	0.12409	T	9	0.058135957	0.06787	T	0.001065	0.01215	T	.	.	0.27	0.21893	0.0138822411134	0.00435	0.01530901113423941	0.01486	.	.	0.677658438683	0.63932	T	0.003505	0.02909	T	-0.310867	0.07672	T	-0.684315	0.06723	T	0.0450783402776309	0.04617	T	0.265573	0.04334	T	0.027877461	0.02041	0.045498837	0.06137	0.027877461	0.02041	0.045498837	0.06136	-2.176	0.03925	T	.	.	0.106	0.19478	B	.	.	-0.033665	0.04055	0.940	0.89991698510802498	0.19283	0.00032	0.00291	N	AEFI	0.015013	0.00265	N	-1.33859130497508	0.03245	0.1446082	-1.4435997008651	0.02829	0.1308339	1.63268862560209E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-1.67	0.07798	-0.316000	0.08112	.	.	0.312000	0.19173	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4185:0.0:0.0:0.5815	4.322	0.10463	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.06667	867.8	1	chr14	18988290	.	T	A	867.8	.	AC=2;AF=0.067;AN=30;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=0.8573;MLEAC=2;MLEAF=0.067;MQ=28.27;QD=25.52;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1235	14	1	0	4
chr14	19413371	19413371	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.G1392T:p.E464D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0012850884948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455494252	0.0007	0.0012	0.0005	0.0010	0.0077	0.0007	0.0007	0.0072	0.0069	9.939e-05	0.0002	0	0.0001	0.0001	0.0025	0.0003	0.0008	0.0077	0.0001	0.0005	0.0001	0.0001	0.0021	6.691e-05	5.081e-05	0.0007	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	0.475	0.12072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.66	0.19085	N	0.089	0.06720	-1.0548	0.13093	T	0.050	0.21378	T	8	0.0747537	0.11466	T	0.001285	0.01759	T	.	.	0.261	0.20473	0.0934897674506	0.08844	0.011699981048302372	0.01129	.	.	0.731519818306	0.71728	T	0.003934	0.03343	T	-0.198075	0.21082	T	-0.522298	0.20062	T	0.156079471010915	0.17578	T	0.686031	0.29438	T	0.047692206	0.08195	0.07661035	0.16986	0.047692206	0.08194	0.07661035	0.16985	-4.393	0.29462	T	.	.	0.134	0.29060	B	.	.	0.704465	0.10733	7.423	0.98525236240178171	0.42520	0.00743	0.03099	N	AEFI	0.031355	0.03337	N	-1.07052320312634	0.07191	0.3333102	-1.28723328962108	0.04602	0.2174681	1.18907660551628E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-0.621	0.10984	-0.917000	0.04134	-1.365000	0.05612	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5474:0.0:0.4526	4.013	0.09117	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	74.69	16	chr14	19413371	.	C	A	74.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.963;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=0.511;MLEAC=2;MLEAF=0.053;MQ=25.46;MQRankSum=-0.985;QD=4.15;ReadPosRankSum=1.41;SOR=0.169	GT:AD:DP:GQ:PL	0/1:13,3:16:41:41,0,347	17	1	1	0
chr14	19413507	19413507	A	G	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.T1256C:p.M419T	.	485	1032	5	0	0	5	0.00241663	.	.	.	3901004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00400049834791	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373618434	0.0012	0.0020	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0002	0.0005	0.0004	0	0.0004	0.0003	0.0014	0.0010	0.0002	0.0007	0.0010	0.0007	0.0007	0.0012	0.0006	0.0006	0.0009	0.0009	0.0002	0	0.0006	0	0	0.0003	0	0.0012	0	0.0007	0.004	0.65419	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-1.71	0.40660	N	0.149	0.15187	-0.9973	0.30673	T	0.034	0.14726	T	7	0.046810925	0.03919	T	0.004	0.09493	T	.	.	0.392	0.41606	0.110392049598	0.10638	0.03260756493049635	0.03208	.	.	0.728531122208	0.71292	T	0.006793	0.06218	T	-0.184233	0.23107	T	-0.502414	0.22099	T	0.0825541827368761	0.10311	T	0.469553	0.13876	T	0.07212819	0.16020	0.1996708	0.43860	0.07212819	0.16020	0.1996708	0.43859	-2.499	0.05774	T	.	.	0.200	0.42404	B	.	.	0.289330	0.06659	3.157	0.54346972993640974	0.05119	0.00210	0.01196	N	AEFI	0.027193	0.02178	N	-1.34842569924515	0.03141	0.1398448	-1.49717310713996	0.02368	0.1087769	3.77234846947537E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-1.991000	0.01567	-2.051000	0.04287	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	336.33	39	chr14	19413507	.	A	G	336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.18;MQRankSum=-1.209;QD=6.86;ReadPosRankSum=-0.277;SOR=0.73	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr14	19433767	19433767	A	G	splicing	POTEG	NM_001005356:exon1:c.521+2T>C	.	.	.	.	.	.	.	.	.	.	0.9263	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463959230	1.374e-06	8.209e-06	2.731e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.982341	0.24971	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383574	0.02957	T	-0.788754	0.02199	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.102007	0.41810	21.4	0.8676017515834209	0.16754	0.38094	0.25911	N	AEFI	.	.	.	0.34216833578208	0.58328	4.004302	-0.027284806929977	0.38486	2.268208	2.15982679078891E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0480346	0.07359	1.27	1.27	0.20595	2.536000	0.45351	4.785000	0.44861	0.336000	0.19692	0.997000	0.40164	0.999000	0.35428	0.075000	0.16954	1.0:0.0:0.0:0.0	4.725	0.12314	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	261.33	91	chr14	19433767	.	A	G	261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.77;DP=1796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.18;MQRankSum=3.22;QD=1.38;ReadPosRankSum=0.512;SOR=0.031	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr14	19434034	19434034	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C256G:p.H86D	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00156188237123	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146829084	0.0014	0.0017	0.0010	0.0018	0.0146	0.0014	0.0013	0.0139	0.0136	0.0003	0.0004	0.0005	3.132e-05	0.0002	0.0093	0.0007	0.0017	0.0146	0.0009	0.0012	0.0007	0.0012	0.0128	0.0008	0.0008	0.0101	0.0091	0.0001	0	0.0009	0.0009	0	0.0005	0.0043	0.0007	0.0025	0.0128	0.025	0.47320	D	0.263	0.22828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.264	0.29889	-1.0316	0.19937	T	0.050	0.21339	T	6	0.008307308	0.00188	T	0.001562	0.02471	T	.	.	0.322	0.30226	0.200294437569	0.19612	0.016831770812088642	0.01638	.	.	0.592665612698	0.51870	T	0.006287	0.05726	T	-0.246989	0.14471	T	-0.592559	0.13445	T	0.0595772515591679	0.07101	T	0.623938	0.24053	T	0.052697938	0.09867	0.12936428	0.31105	0.052697938	0.09866	0.12936428	0.31105	-7.677	0.58848	D	.	.	0.089	0.12132	B	.	.	0.887264	0.12606	9.133	0.71549487364888009	0.09667	0.00673	0.02898	N	AEFI	0.031461	0.03370	N	-1.08682113796644	0.06885	0.3182525	-1.24599346805238	0.05190	0.2467232	1.24656028350294E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.835000	0.04494	-1.086000	0.06374	0.202000	0.17929	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	8525.36	1119	chr14	19434034	.	G	C	8525.36	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-4.725;DP=13286;ExcessHet=0;FS=2.577;InbreedingCoeff=0.1648;MLEAC=2;MLEAF=0.091;MQ=44.62;MQRankSum=8.59;QD=7.35;ReadPosRankSum=4.81;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:742,418:1160:99:0|1:19434034_G_C:8535,0,20794:19434034	10	0	1	8
chr14	19434246	19434246	T	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.A44G:p.K15R	.	420	1082	20	0	0	20	0.00915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00355896652263	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs559699024	5.342e-05	0.0004	3.406e-05	7.299e-05	0.0006	4.349e-05	4.022e-05	0.0005	0.0004	2.99e-05	0	0	0	0	0	1.979e-05	8.298e-05	0.0006	9.198e-05	0.0003	7.714e-05	0.0001	0.0015	5.527e-05	4.364e-05	0.0007	0.0005	0	0	0.0001	0	0	0	0	5.885e-05	0.0005	0.0015	0.0	0.91255	D	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.62	0.18248	N	0.179	0.19325	-1.0026	0.29168	T	0.134	0.44700	T	6	0.08180854	0.13434	T	0.003559	0.08123	T	.	.	0.286	0.24440	0.0934897674506	0.08844	0.0023369445484234053	0.00216	.	.	0.582423329353	0.50426	T	0.004204	0.03611	T	-0.203433	0.20309	T	-0.529994	0.19287	T	0.0873784795403481	0.10904	T	0.789321	0.42944	T	0.13709721	0.31758	0.21321933	0.45823	0.13709721	0.31758	0.21321933	0.45822	-3.978	0.23473	T	.	.	0.091	0.13221	B	.	.	2.168976	0.27642	17.53	0.99304560410103992	0.58759	0.00664	0.02871	N	AEFI	0.034539	0.04297	N	-0.567450050669242	0.19940	1.047478	-0.854302654597756	0.13185	0.6825757	1.20765058704745E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.150000	0.16082	0.189000	0.15722	0.296000	0.18849	0.086000	0.22486	0.808000	0.27011	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1135.83	470	chr14	19434246	.	T	C	1135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.229;DP=7004;ExcessHet=0.119;FS=0.958;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=33.45;MQRankSum=1.5;QD=1.06;ReadPosRankSum=-0.282;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:491,0:491:99:.:.:0,120,1800:.	17	0	2	0
chr14	19713015	19713015	T	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.A902G:p.N301S	.	560	950	11	1	0	13	0.00679561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0116	0.0070	0.0108	0	0	0.0148	0	0.0069	0.0025742	67	26028	rs199518800	0.0096	0.0098	0.0097	0.0095	0.0294	0.0095	0.0095	0.0250	0.0234	0.0023	0.0082	0.0026	2.542e-05	0.0019	0.0294	0.0111	0.0106	0.0046	0.0082	0.0084	0.0089	0.0075	0.0124	0.0078	0.0076	0.0109	0.0103	0.0030	0.1172	0.0124	0.0015	0	0.0020	0.0280	0.0105	0.0171	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.455	0.92281	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011133403	0.00245	T	.	.	.	.	.	.	.	0.215869574891	0.21205	0.1917215674202443	0.19090	.	.	0.330938637257	0.15076	T	0.035256	0.23648	T	-0.208439	0.19598	T	-0.0627898	0.66137	T	.	.	.	0.938406	0.76842	D	0.11643884	0.27463	0.22482058	0.47407	0.11643884	0.27462	0.22482058	0.47406	-4.875	0.35453	T	.	.	0.095	0.15115	B	.;.	.;.	3.329613	0.45828	22.2	0.46429092639118175	0.03718	0.96575	0.69827	D	AEFI	.	.	.	.	.	.	.	.	.	3.05807834259679E-4	0.06454	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.631584	0.41392	1.26	1.26	0.20534	6.843000	0.75179	5.232000	0.48034	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.0:1.0	6.762	0.22733	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018248	0.032609	0.025478	0.034091	0.000000	0.000000	0.000000	0.000000	0.02632	1536.33	34	chr14	19713015	.	T	C	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.3;MQRankSum=-3.981;QD=11.73;ReadPosRankSum=1.59;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1385	18	0	1	0
chr14	19713189	19713189	A	G	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T728C:p.M243T	.	489	1017	14	0	2	16	0.00683594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0033	0.0103	0	0.0015	0.0006	0.0028	0.0011	3.84e-05	1	26028	rs1590546	0.0004	0.0011	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0017	0.0023	0.0021	3.833e-05	0.0006	7.526e-05	0.0029	0.0002	0.0007	0.0014	0.0010	0.0017	0.0009	0.0011	0.0026	0.0009	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0006	0.0004	0	0.0003	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.595	0.40691	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012151003	0.00262	T	.	.	.	.	.	.	.	0.166414681773	0.16258	0.09044129637984567	0.08977	.	.	0.24798822403	0.03559	T	0.011333	0.10128	T	0.0643397	0.60154	T	-0.145357	0.59653	T	.	.	.	0.40306	0.10319	T	0.25926927	0.48979	0.3451211	0.60199	0.25926927	0.48979	0.3451211	0.60199	-6.908	0.53358	T	.	.	0.275	0.50880	B	.;.	.;.	1.734153	0.22072	15.47	0.4422263449447929	0.03384	0.03438	0.08576	N	AEFI	.	.	.	.	.	.	.	.	.	4.60436804700089E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443002	0.02987	1.26	1.26	0.20534	0.639000	0.24378	6.816000	0.56659	0.519000	0.23678	0.000000	0.06391	0.835000	0.27248	0.001000	0.02609	1.0:0.0:0.0:0.0	6.762	0.22733	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005215	0.000000	0.006983	0.006024	0.000000	0.000000	0.004167	0.000000	0.02632	929.33	34	chr14	19713189	.	A	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.568;DP=1241;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.71;MQRankSum=-2.633;QD=9.11;ReadPosRankSum=0.83;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1385	18	0	1	0
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.37	34	chr14	19713214	.	G	T	187.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.754;DP=1380;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=34.33;MQRankSum=-6.017;QD=1.51;ReadPosRankSum=-0.056;SOR=0.539	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1385	18	0	1	0
chr14	19713291	19713291	C	-	exonic	OR11H2	.	frameshift deletion	OR11H2:NM_001197287:exon2:c.626delG:p.R209Kfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401744051	2.056e-06	7.593e-05	0	4.132e-06	1.161e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.995e-07	1.662e-05	1.161e-05	3.962e-05	0.0003	3.876e-05	4.053e-05	0.0001	1.723e-05	1.134e-05	6.354e-05	4.346e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	177.29	38	chr14	19713290	.	TC	T	177.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.669;DP=1471;ExcessHet=0;FS=11.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.15;MQRankSum=-5.908;QD=0.85;ReadPosRankSum=-0.363;SOR=1.055	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1385	18	0	1	0
chr14	19747905	19747905	C	T	exonic	OR4Q3	.	stopgain	OR4Q3:NM_172194:exon1:c.C478T:p.Q160X	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.0113818	0.0026	0.0282	0.0008	0	0	0.0001	0	0	0.0024903	385	154602	rs148505982	0.0009	0.0009	0.0010	0.0007	0.0276	0.0008	0.0008	0.0261	0.0255	0.0276	0.0017	0	0	0	0.0024	0.0001	0.0018	5.797e-05	0.0077	0.0078	0.0078	0.0075	0.0266	0.0073	0.0071	0.0253	0.0247	0.0266	0	0.0024	0	0.0002	0	0.0034	0.0002	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	0.001761	0.38106	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030817	0.55833	T	0.291087	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.924380	0.95919	35	0.99487010235797213	0.67235	0.16191	0.19273	N	AEFDGBI	0.082030	0.16605	N	0.522073976205488	0.68396	5.211554	0.235996061905137	0.51857	3.364689	0.00807351794646084	0.11605	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	4.09	0.47038	3.112000	0.50061	2.463000	0.32863	0.533000	0.24879	0.700000	0.28626	0.987000	0.30940	0.326000	0.25110	0.0:1.0:0.0:0.0	13.833	0.62885	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.015152	0.009511	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1346.33	141	chr14	19747905	.	C	T	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.228;DP=1480;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=1.44;QD=12.95;ReadPosRankSum=-1.418;SOR=0.588	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	18	0	1	0
chr14	19876428	19876428	A	T	exonic	OR4K2	.	nonsynonymous SNV	OR4K2:NM_001005501:exon1:c.A161T:p.H54L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0059	0.00539137	0.0018	0.0191	0.0003	0	0	0.0002	0	0	0.0017076	264	154602	rs74036118	0.0006	0.0007	0.0007	0.0005	0.0178	0.0006	0.0006	0.0166	0.0161	0.0178	0.0014	0	0	0	0.0017	0.0001	0.0014	1.159e-05	0.0057	0.0060	0.0059	0.0056	0.0190	0.0054	0.0053	0.0179	0.0175	0.0190	0	0.0039	0	0	0	0.0102	0.0002	0.0033	0	0.039	0.42487	D	0.057	0.46406	T	0.116	0.26475	B	0.065	0.27321	B	0.002330	0.36766	N	0.123171	0.845397	0.35134	D	2.55	0.74443	M	5.69	0.00751	T	-5.88	0.88699	D	0.448	0.48596	-0.8591	0.51327	T	0.003	0.00800	T	10	0.0065841377	0.00149	T	.	.	.	0.104	0.29647	.	.	0.328486982098	0.32448	0.15399412467077245	0.15321	5.08262435259E-4	0.00050	0.296897798777	0.09940	T	0.009546	0.08688	T	-0.554798	0.00273	T	-0.555426	0.16808	T	0.0563045708789412	0.06573	T	0.186181	0.01938	T	0.49189937	0.66616	0.51393944	0.71914	0.49189937	0.66617	0.51393944	0.71915	-8.58	0.64957	D	.	.	0.105	0.21239	B	.;.	.;.	1.941003	0.24650	16.48	0.96662175057187705	0.30632	0.75693	0.37074	D	AEFGI	0.299047	0.40820	N	-0.234228494735922	0.31737	1.782641	-0.177056793046204	0.32381	1.841749	0.999880927980581	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	0.421000	0.20999	0.191000	0.15744	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	1.0:0.0:0.0:0.0	13.419	0.60436	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.020202	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	4120.33	58	chr14	19876428	.	A	T	4120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=1100;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=-0.452;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,114,1710:.	18	0	1	0
chr14	19921154	19921154	G	A	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.G548A:p.R183Q	.	.	.	.	.	.	.	.	.	.	.	4039374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.000665119172751	.	0.000199681	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs201033872	1.3e-05	1.3e-05	1.497e-05	1.1e-05	5.797e-05	8.31e-06	6.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.079e-05	3.312e-05	5.797e-05	3.284e-05	3.938e-05	2.57e-05	4.03e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.375e-05	0	0	0	0	0.0006	9.436e-05	0	0	0	0.0002	0.162	0.23541	T	0.378	0.16086	T	0.063	0.23376	B	0.015	0.17295	B	0.000793	0.41772	D	0.000000	1	0.08975	N	-0.87	0.01450	N	8.89	0.00028	T	-1.26	0.31778	N	0.039	0.01274	-1.1110	0.02985	T	0.000	0.00075	T	10	0.015964955	0.00335	T	6.65E-4	0.00367	T	0.055	0.15663	.	.	0.302459207581	0.29844	0.08018285344812794	0.07953	0.00140046893544	0.00121	0.275553047657	0.06881	T	0.003798	0.03212	T	-0.423214	0.01632	T	-0.664166	0.07988	T	0.0743787512183189	0.09253	T	0.148285	0.01234	T	0.053210735	0.10035	0.0560865	0.09957	0.053210735	0.10034	0.0560865	0.09956	-0.016	0.00355	T	.	.	0.105	0.19235	B	.	.	1.450039	0.18706	13.88	0.98266358286926114	0.39713	0.03706	0.08988	N	AEFGBI	0.048905	0.08393	N	-0.961993278872579	0.09425	0.4460011	-0.886933696879711	0.12403	0.6377822	0.395110280044594	0.20081	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	1.39	0.21325	-1.643000	0.02106	-13.138000	0.00477	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.0922:0.0:0.4085:0.4993	5.875	0.18072	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3966.33	33	chr14	19921154	.	G	A	3966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=942;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.17;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	18	0	1	0
chr14	19921398	19921398	C	G	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.C792G:p.I264M	.	.	.	.	.	.	.	.	.	.	.	2297287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0032385992054	.	.	8.238e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs753759911	1.026e-05	1.231e-05	4.084e-06	1.65e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	3.272e-05	0	0	0	0	0	0.0003	0	8.28e-05	9.275e-05	1.314e-05	1.313e-05	0	2.689e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.547e-05	0	0	0	0	0	0	0	0.054	0.38633	T	0.02	0.58613	D	0.32	0.32998	B	0.069	0.27757	B	0.300805	0.14602	N	0.605017	1	0.08975	N	1.11	0.28643	L	1.11	0.38883	T	0.42	0.03352	N	0.114	0.10198	-1.0485	0.14818	T	0.062	0.25744	T	10	0.076812595	0.12047	T	0.003239	0.07147	T	0.026	0.05648	0.345	0.33950	0.372087925617	0.36815	0.04794117113228723	0.04737	0.00230504125883	0.00198	0.239634752274	0.02758	T	0.001923	0.01337	T	-0.398494	0.02369	T	-0.628658	0.10516	T	0.131872743368149	0.15554	T	0.442956	0.12306	T	0.067266166	0.14551	0.06679155	0.13731	0.067266166	0.14551	0.06679155	0.13730	-4.253	0.27513	T	.	.	0.098	0.16275	B	.	.	0.777658	0.11479	8.080	0.48381477633430409	0.04033	0.11191	0.16469	N	AEFGBI	0.066226	0.12958	N	-0.892608642708875	0.11017	0.5294549	-0.982559354212176	0.10177	0.5109119	0.928880584744281	0.26946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.38	-0.469	0.11536	-0.287000	0.08423	-20.000000	0.00162	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.0:0.3959:0.0:0.6041	8.293	0.31125	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1767.33	33	chr14	19921398	.	C	G	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=947;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=0.249;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	18	0	1	0
chr14	19935887	19935887	C	G	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.C221G:p.S74C	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00106788272379	0.0011	0.000399361	0.0013	0.0002	0.0036	0	0.0008	0.0011	0.0011	0.0017	0.0010608	164	154602	rs147067678	0.0008	0.0009	0.0008	0.0008	0.0045	0.0007	0.0007	0.0032	0.0027	8.961e-05	0.0017	0.0066	0	0.0003	0.0045	0.0006	0.0013	0.0011	0.0008	0.0008	0.0007	0.0008	0.0010	0.0007	0.0006	0.0008	0.0007	0.0002	0	0.0003	0.0058	0	0.0009	0.0034	0.0010	0.0024	0.0002	0.06	0.37326	T	0.108	0.37589	T	0.998	0.73220	D	0.91	0.64641	D	0.001031	0.40562	N	0.112078	1	0.08975	N	1.715	0.44382	L	5.63	0.00800	T	-3.19	0.64593	D	0.274	0.31027	-1.0082	0.27479	T	0.010	0.03856	T	10	0.0044441223	0.00091	T	0.001068	0.01239	T	0.118	0.32913	.	.	0.42573502686	0.42190	0.28139189243566165	0.28052	0.00138996172614	0.00116	0.31244340539	0.12276	T	0.006977	0.06403	T	-0.485597	0.00687	T	-0.489318	0.23464	T	0.0559480050221536	0.06516	T	0.29547	0.05467	T	0.22023651	0.44574	0.24597196	0.50096	0.22023651	0.44574	0.24597196	0.50095	-6.727	0.52013	T	.	.	0.114	0.25914	B	.;.;.	.;.;.	4.285108	0.65301	24.8	0.97065796034949325	0.32213	0.18492	0.20282	N	AEFI	0.062781	0.12091	N	0.32433742329637	0.57400	3.907199	0.232457311076695	0.51658	3.346372	0.908363759924338	0.26283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	4.02	0.45968	1.340000	0.33501	1.228000	0.25023	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.8404:0.1595:0.0	13.265	0.59560	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.000000	0.050000	0.017241	0.009146	0.000000	0.05263	4948.83	37	chr14	19935887	.	C	G	4948.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=2738;ExcessHet=0.119;FS=2.499;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.66;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	17	0	2	0
chr14	19975592	19975592	T	G	exonic	OR4K15	.	nonsynonymous SNV	OR4K15:NM_001005486:exon1:c.T74G:p.M25R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0045	0.00459265	0.0014	0.0151	0.0004	0	0	4.505e-05	0	6.059e-05	0.0012872	199	154602	rs139828094	0.0003	0.0003	0.0004	0.0003	0.0118	0.0003	0.0003	0.0109	0.0105	0.0118	0.0006	0	0	0	0.0007	1.08e-05	0.0010	2.319e-05	0.0038	0.0038	0.0043	0.0034	0.0135	0.0036	0.0035	0.0126	0.0122	0.0135	0	0.0010	0	0	0	0	2.941e-05	0.0019	0	0.008	0.58626	D	0.011	0.64786	D	0.993	0.65571	D	0.951	0.68939	D	0.000058	0.53742	D	0.000000	0.998776	0.21918	N	2.59	0.75718	M	4.92	0.01404	T	-4.62	0.79143	D	0.664	0.67304	-1.0528	0.13628	T	0.009	0.03140	T	10	0.006589651	0.00149	T	.	.	.	0.066	0.19193	.	.	0.413450081142	0.40960	0.5271966225271043	0.52643	0.243466364465	0.26849	0.386494606733	0.23174	T	0.029425	0.21087	T	-0.542398	0.00324	T	-0.540217	0.18274	T	0.0730536784590466	0.09073	T	0.9	0.65058	D	0.6567227	0.75723	0.60233015	0.76892	0.6567227	0.75724	0.60233015	0.76893	-5.025	0.37110	T	.	.	0.090	0.12418	B	.;.	.;.	3.936393	0.57567	23.9	0.98086311083286604	0.38149	0.29794	0.23915	N	AEFI	0.078089	0.15749	N	0.35700568538095	0.59109	4.087836	0.183128295836211	0.48923	3.101882	0.075181260495965	0.15688	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	1.98	0.25351	1.846000	0.38929	2.686000	0.34052	0.605000	0.46263	0.893000	0.31264	1.000000	0.68203	0.980000	0.58198	0.2303:0.1328:0.0:0.6369	2.600	0.04569	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001720	0.000000	0.002740	0.004310	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	67	chr14	19975592	.	T	G	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.557;DP=813;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.388;SOR=0.796	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr14	20229914	20229914	C	T	exonic	OR11H7	.	unknown	UNKNOWN	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0045	0	0	0	0	0	0.0050	0.0093	0.0006727	104	154602	rs374080381	0.0012	0.0011	0.0005	0.0017	0.0101	0.0011	0.0011	0.0094	0.0092	0	0	0	0	0	0.0002	0	0.0006	0.0101	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	4.815e-05	0	0	0	0	0	0	0	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3568.33	205	chr14	20229914	.	C	T	3568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.487;DP=2984;ExcessHet=0;FS=3.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.403;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:187,0:187:99:.:.:0,120,1800:.	18	0	1	0
chr14	20386466	20386466	C	T	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon17:c.G2518A:p.E840K,TEP1:NM_007110:exon19:c.G2842A:p.E948K	.	408	1095	19	0	0	19	0.00860118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0003	0.00319489	0.0022	0	0.0007	0	0.0012	0.0007	0.0011	0.0134	0.0019405	300	154602	rs141172994	0.0013	0.0013	0.0008	0.0017	0.0132	0.0012	0.0012	0.0126	0.0123	2.998e-05	0.0005	0.0070	0	0.0015	0.0035	0.0003	0.0016	0.0132	0.0010	0.0010	0.0007	0.0012	0.0127	0.0008	0.0008	0.0101	0.0092	4.811e-05	0	0.0006	0.0063	0	0.0019	0	0.0005	0.0014	0.0127	0.093	0.33254	T	0.0	0.92824	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.991325	0.41361	D	2.475	0.71894	M	2.21	0.18414	T	-3.03	0.63901	D	0.719	0.74280	-1.0630	0.11021	T	0.085	0.33269	T	10	0.008116037	0.00184	T	.	.	.	0.171	0.43483	.	.	0.485920709088	0.48224	0.6255316548847664	0.62486	0.465801574618	0.46004	0.688492536545	0.65489	T	0.584887	0.86463	D	-0.319584	0.06932	T	-0.220806	0.52660	T	0.0819909150361162	0.10241	T	0.921708	0.71584	D	0.4524822	0.64198	0.35530064	0.61060	0.4524822	0.64198	0.35530064	0.61060	-12.009	0.84896	D	.	.	0.209	0.47426	B	.;.	.;.	4.278851	0.65166	24.8	0.99909792534061903	0.97949	0.89285	0.49657	D	AEFDBI	0.338705	0.43609	N	0.664503691314729	0.77311	6.650329	0.619587811240811	0.76365	6.477304	0.999994975724848	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.21	5.21	0.72005	3.408000	0.52402	7.646000	0.63445	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.661000	0.32996	0.16:0.84:0.0:0.0	13.200	0.59187	912	0.21483	Domain of unknown function DUF4062;Domain of unknown function DUF4062	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015267	0.02632	359.33	36	chr14	20386466	.	C	T	359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.717;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.24;SOR=0.714	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr14	20435255	20435255	T	A	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.A557T:p.E186V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92063	0.27301	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15361413	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020204	0.15948	T	.	.	.	.	.	.	.	.	.	0.658334	0.26756	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.39220	B	.;.	.;.	2.427280	0.31222	18.68	0.75537469152107783	0.11113	0.19559	0.20708	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999985710056426	0.51787	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.64126	0.41592	4.64	4.64	0.57399	1.393000	0.34106	7.603000	0.61629	0.609000	0.47794	0.004000	0.16614	1.000000	0.68203	0.108000	0.18652	0.0:0.0:0.0:1.0	11.934	0.52148	946	0.12043	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	30.12	.	chr14	20435255	.	T	A	30.12	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=39;ExcessHet=0;FS=0;InbreedingCoeff=-0.1323;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	14	0	1	4
chr14	20435274	20435274	C	G	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.G538C:p.D180H	.	616	898	8	0	0	8	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs374606404	0.0002	0.0002	0.0002	0.0003	0.0061	0.0002	0.0002	0.0052	0.0049	8.681e-05	0	0	0	0	0.0042	9.454e-05	0.0005	0.0061	0.0003	0.0003	0.0002	0.0005	0.0079	0.0003	0.0002	0.0059	0.0052	2.404e-05	0	0	0	0	0	0	0.0002	0	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985615	0.40309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017137319	0.00364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019395	0.15458	T	.	.	.	.	.	.	.	.	.	0.754025	0.37642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.34339	B	.;.	.;.	2.901008	0.38450	20.7	0.58449813018790864	0.05996	0.68304	0.33751	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.99989412893698	0.45129	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.220741	0.31357	4.64	3.73	0.41982	3.165000	0.50477	5.823000	0.50099	0.549000	0.26987	0.989000	0.36753	1.000000	0.68203	0.137000	0.19835	0.0:0.8284:0.1716:0.0	12.300	0.54191	946	0.12043	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.4	1	chr14	20435274	.	C	G	70.4	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.967;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.1759;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,99	13	1	1	4
chr14	20447624	20447624	G	A	exonic	OSGEP	.	nonsynonymous SNV	OSGEP:NM_017807:exon9:c.C860T:p.T287I	.	428	1092	2	0	0	2	0.000914913	.	.	.	1978103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.0362901458565	.	.	9.904e-05	0	0	0	0	3.002e-05	0	0.0006	7.76e-05	12	154602	rs200195720	5.816e-05	5.883e-05	4.085e-05	7.564e-05	0.0010	4.81e-05	4.432e-05	0.0005	0.0004	0	0	0	0	0	0.0010	2.159e-05	0.0001	0.0006	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.241	0.17643	T	0.433	0.13595	T	0.022	0.18677	B	0.104	0.31021	B	0.000000	0.84330	D	0.047816	1	0.81001	D	2.505	0.72935	M	0.9	0.45248	T	-4.49	0.78046	D	0.86	0.85660	-0.9507	0.40851	T	0.142	0.46331	T	10	0.689082	0.71743	D	0.03629	0.56894	D	0.422	0.73078	0.756	0.88567	0.503744809241	0.50012	0.7912002704190495	0.79072	0.341241828603	0.36058	0.627879619598	0.56845	T	0.341612	0.71049	T	-0.0211043	0.48696	T	0.0960716	0.76648	D	0.283557472157514	0.24320	T	0.905509	0.66687	D	0.51227134	0.67812	0.417141	0.65777	0.49163184	0.66601	0.36233714	0.61641	-11.389	0.81748	D	0.4120327927223433	0.50220	0.503	0.64709	A	.	.	4.608910	0.73068	25.9	0.98327689232398607	0.40309	0.99437	0.96018	D	AEFBI	0.874635	0.79762	D	0.191710668829668	0.50800	3.266747	0.332081911480543	0.57434	3.909114	0.999999999999708	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.505000	0.80519	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.078	0.86467	952	0.10565	Gcp-like domain|Gcp-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1220.33	34	chr14	20447624	.	G	A	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=742;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.028;SOR=0.565	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1196	18	0	1	0
chr14	20455957	20455957	-	A	exonic	APEX1	.	frameshift insertion	APEX1:NM_001244249:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_001641:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_080648:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_080649:exon3:c.103dupA:p.E36Rfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1312.29	33	chr14	20455957	.	C	CA	1312.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=711;ExcessHet=0;FS=9.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.717;SOR=0.359	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	18	0	1	0
chr14	20460843	20460843	A	G	exonic	PIP4P1	.	nonsynonymous SNV	PIP4P1:NM_001100814:exon2:c.T166C:p.F56L,PIP4P1:NM_144568:exon2:c.T145C:p.F49L	.	431	1087	4	0	0	4	0.00183655	.	.	.	3368794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00565257763652	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001294	20	154602	rs140952087	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	0	0	0	0	0	0.0008	0.0001	0.0002	0.0007	7.883e-05	7.874e-05	0.0001	5.374e-05	0.0006	4.496e-05	3.511e-05	0.0002	8.996e-05	2.408e-05	0	6.538e-05	0	0	0	0.0102	5.883e-05	0	0.0006	0.416	0.09958	T	0.681	0.06690	T	0.006	0.15535	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	.	.	.	.	.	.	0.17	0.10136	N	0.322	0.40765	-1.0699	0.09436	T	0.071	0.28871	T	9	0.038879633	0.02343	T	0.005653	0.14621	T	0.067	0.19503	0.378	0.39319	0.043077524339	0.03247	0.28668810835093983	0.28581	0.688937941176	0.60465	0.860193371773	0.91139	D	0.047593	0.27768	T	-0.338513	0.05491	T	-0.350577	0.39139	T	0.0964620133771349	0.11963	T	0.39716	0.25952	T	0.23022433	0.45773	0.18409641	0.41440	0.23022433	0.45773	0.18409641	0.41439	-2.715	0.07759	T	.	.	0.858	0.80194	P	.;.	.;.	3.159903	0.42806	21.6	0.97731876784667826	0.35622	0.92092	0.54927	D	AEFDGBCI	0.664998	0.63397	D	-0.334302106270216	0.27853	1.531528	-0.129038461335731	0.34225	1.966331	0.999999999538087	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.36	4.36	0.51643	4.426000	0.59629	11.170000	0.87939	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	12.723	0.56523	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	579.33	37	chr14	20460843	.	A	G	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=690;ExcessHet=0;FS=5.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.013;SOR=0.237	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr14	20556658	20556658	C	T	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.G412A:p.E138K,RNASE9:NM_001110356:exon3:c.G412A:p.E138K,RNASE9:NM_001110357:exon3:c.G412A:p.E138K,RNASE9:NM_001110358:exon4:c.G427A:p.E143K,RNASE9:NM_001110360:exon4:c.G427A:p.E143K,RNASE9:NM_001289110:exon4:c.G412A:p.E138K,RNASE9:NM_001110359:exon5:c.G427A:p.E143K,RNASE9:NM_001110361:exon5:c.G427A:p.E143K	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00226365638764	0.0002	0.000599042	0.0007	0	0.0007	0	0	0.0005	0.0011	0.0024	0.0006404	99	154602	rs151318768	0.0004	0.0004	0.0004	0.0005	0.0106	0.0004	0.0004	0.0085	0.0077	0.0003	0.0009	0.0001	0	0	0.0106	0.0002	0.0010	0.0024	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0012	0.0011	7.213e-05	0	0.0018	0.0003	0	0	0.0068	0.0004	0.0014	0.0017	0.157	0.24468	T	0.049	0.48336	D	0.817	0.45613	P	0.555	0.49371	P	.	.	.	.	1	0.08975	N	2.005	0.54552	M	1.05	0.39990	T	-0.77	0.21429	N	0.109	0.14054	-1.0684	0.09768	T	0.077	0.30889	T	9	0.009732485	0.00219	T	0.002264	0.04314	T	0.076	0.22200	.	.	0.171388866994	0.16791	0.35025384010115873	0.34939	0.124617667741	0.14036	0.279298424721	0.07395	T	0.004526	0.03927	T	-0.611168	0.00125	T	-0.655915	0.08545	T	0.0445337345306015	0.04517	T	0.60094	0.22456	T	0.06841872	0.14904	0.05243686	0.08640	0.06841872	0.14904	0.05243686	0.08639	-3.249	0.13545	T	.	.	0.168	0.43407	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140295	0.03408	0.618	0.95839978556147964	0.27963	0.00412	0.02045	N	AEFDBI	0.034438	0.04266	N	-1.30431364748676	0.03626	0.1622773	-1.56646288661735	0.01865	0.08500237	0.999999987347841	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-7.47	0.01221	-1.442000	0.02514	-14.463000	0.00402	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2213:0.1522:0.219:0.4074	0.767	0.00952	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.008152	0.008772	0.000000	0.043103	0.000000	0.000000	0.02632	2088.33	34	chr14	20556658	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=839;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.457;SOR=0.367	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr14	20640964	20640964	G	C	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C728G:p.T243S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.0084174518343	0.0003	.	7.414e-05	9.61e-05	0	0	0	8.993e-05	0.0022	0	5.82e-05	9	154602	rs146063086	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.9e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	0.0001	8.279e-05	5.797e-05	7.228e-05	7.224e-05	7.709e-05	6.725e-05	0.0001	3.971e-05	3.127e-05	4.764e-05	3.338e-05	9.654e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000103	0.50451	D	0.000000	0.998154	0.44569	D	3.255	0.89877	M	1.03	0.40469	T	-3.89	0.72820	D	0.716	0.71854	-0.0575	0.81046	T	0.377	0.73498	T	10	0.82145846	0.81348	D	0.008417	0.22282	T	0.498	0.78226	0.672	0.81002	0.813005471371	0.81125	0.18732797395886366	0.18650	0.108671175235	0.12253	0.264645278454	0.05457	T	0.008886	0.08127	T	-0.0436402	0.45408	T	-0.10878	0.62708	T	0.704077264210549	0.40913	D	0.728627	0.34357	T	0.9294395	0.94181	0.90759754	0.95517	0.9294395	0.94182	0.90759754	0.95518	-9.658	0.71839	D	.	.	0.448	0.62083	A	.	.	4.125437	0.61694	24.4	0.99725309728973455	0.82336	0.99479	0.96535	D	AEFGBI	0.819329	0.74038	D	1.00510971242637	0.95899	14.08313	0.931822759064233	0.96816	15.18462	0.999999999871656	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	7.946000	0.87231	5.984000	0.52218	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.150	0.86654	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	156	chr14	20640964	.	G	C	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1843;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.637;SOR=0.667	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	145.45	35	chr14	20747837	.	G	A	145.45	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.714;DP=1476;ExcessHet=0.119;FS=206.073;InbreedingCoeff=-0.1079;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=-0.281;SOR=9.657	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,103,1800	14	0	2	3
chr14	21001140	21001140	G	A	exonic	SLC39A2	.	nonsynonymous SNV	SLC39A2:NM_014579:exon4:c.G491A:p.R164Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	3915013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.0252316148362	.	0.000199681	6.597e-05	0	0	0.0006	0	3e-05	0	6.079e-05	5.82e-05	9	154602	rs138590006	4.72e-05	4.72e-05	5.989e-05	3.438e-05	0.0013	3.794e-05	3.476e-05	0.0010	0.0009	0	0	0	0.0013	0	0.0005	1.259e-05	1.656e-05	0	4.598e-05	4.594e-05	6.427e-05	2.687e-05	0.0008	2.109e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.411e-05	0	0	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.958	0.70027	D	0.000022	0.55875	D	0.118607	0.999983	0.81001	D	3.34	0.90961	M	0.66	0.52416	T	-3.33	0.66206	D	0.529	0.55799	-0.3875	0.72420	T	0.323	0.69195	T	10	0.55432785	0.64431	D	0.025232	0.48206	D	0.412	0.72328	.	.	0.70605563185	0.70349	0.5819555160883828	0.58124	0.264892400789	0.29045	0.412412524223	0.26791	T	0.268543	0.64068	T	-0.0545458	0.43754	T	0.00388203	0.70587	D	0.93366014957428	0.60056	D	0.854814	0.54193	D	0.74228644	0.80423	0.62717974	0.78263	0.74228644	0.80424	0.62717974	0.78263	-4.088	0.25113	T	.	.	0.109	0.20896	B	.	.	4.710909	0.75672	26.4	0.99956371642863195	0.99975	0.98068	0.79327	D	AEFBI	0.850315	0.76714	D	0.819346170901503	0.87299	9.170579	0.764388265028395	0.87228	9.150319	0.999999999998155	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	5.7	0.88690	9.091000	0.93500	8.551000	0.77529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.0:1.0:0.0	17.329	0.87144	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2507.33	37	chr14	21001140	.	G	A	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=860;ExcessHet=0;FS=2.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.922;SOR=0.494	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr14	21043302	21043302	G	A	exonic	RNASE7	.	nonsynonymous SNV	RNASE7:NM_032572:exon2:c.G310A:p.V104M	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00593914415387	0.0008	0.000199681	0.0009	0.0004	0	0.0002	0.0008	0.0015	0	6.056e-05	0.0008991	139	154602	rs202167148	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0010	0.0010	0.0001	6.708e-05	0	2.519e-05	0.0004	0.0005	0.0010	0.0004	0.0001	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	0.0002	0	0.0001	0	0	0.0007	0	0.0011	0	0.0002	0.111	0.29029	T	0.058	0.46182	T	0.976	0.58310	D	0.66	0.52803	P	0.404697	0.13077	U	0.682102	0.999994	0.08975	N	1.115	0.28702	L	2.32	0.16640	T	-2.42	0.53096	N	0.237	0.26717	-1.0496	0.14509	T	0.035	0.14943	T	10	0.044852555	0.03488	T	0.005939	0.15490	T	0.140	0.37593	.	.	0.12205267543	0.11705	0.5422597793830704	0.54150	0.626887271601	0.56801	0.3420355618	0.16743	T	0.081838	0.36689	T	-0.505809	0.00530	T	-0.51835	0.20462	T	0.0489399816272107	0.05313	T	.	.	.	0.07620509	0.17219	0.1149799	0.27754	0.07620509	0.17219	0.1149799	0.27754	-5.624	0.43011	T	.	.	0.182	0.39511	B	.	.	2.020984	0.25683	16.85	0.99671631255187132	0.78652	0.04263	0.09796	N	AEFBI	0.051730	0.09168	N	-0.380209248180333	0.26176	1.426547	-0.51022907655124	0.21875	1.185469	0.99975808202731	0.42595	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.94	2.03	0.25714	0.679000	0.24971	2.043000	0.30309	0.676000	0.76740	0.024000	0.20007	0.971000	0.29754	0.044000	0.14658	0.1919:0.1736:0.6345:0.0	5.039	0.13789	958	0.09170	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4323.33	281	chr14	21043302	.	G	A	4323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=4312;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.897;SOR=0.773	GT:AD:DP:GQ:PL	0/0:236,0:236:99:0,120,1800	18	0	1	0
chr14	21080754	21080754	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G326A:p.R109Q,ARHGEF40:NM_001278530:exon12:c.G326A:p.R109Q,ARHGEF40:NM_018071:exon12:c.G2468A:p.R823Q	.	396	1115	11	0	0	11	0.00490852	.	.	.	714051	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0092	0.00878594	0.0039	0.0253	0.0038	0	0.0003	0.0020	0.0057	0.0010	0.0037322	577	154602	rs61734981	0.0023	0.0023	0.0023	0.0022	0.0265	0.0022	0.0022	0.0251	0.0245	0.0265	0.0055	0.0036	0	0.0003	0.0143	0.0015	0.0047	0.0005	0.0092	0.0092	0.0092	0.0091	0.0266	0.0088	0.0086	0.0253	0.0248	0.0266	0	0.0076	0.0029	0	0.0002	0.0204	0.0019	0.0123	0.0010	0.352	0.12226	T	0.139	0.33666	T	0.136	0.27347	B	0.016	0.17743	B	0.013347	0.28869	N	0.165528	0.962772	0.26052	N	0.49	0.13296	N	4.39	0.02234	T	0.7	0.02163	N	0.146	0.14763	-0.8980	0.48195	T	0.003	0.00961	T	10	0.00621292	0.00140	T	.	.	.	0.022	0.04323	.	.	0.330589388543	0.32661	0.0707227173842482	0.07009	0.274884690193	0.29973	0.308119356632	0.11623	T	0.006533	0.05961	T	-0.659213	0.00064	T	-0.699418	0.05858	T	0.00793107673425905	0.00093	T	0.835216	0.50504	T	0.026932659	0.01815	0.03388583	0.02359	0.026932659	0.01814	0.03388583	0.02358	-4.066	0.24787	T	.	.	0.069	0.03026	B	.	.	2.004535	0.25467	16.77	0.95875339350678024	0.28060	0.48092	0.28129	N	AEFBI	0.176021	0.30321	N	-0.332402382419963	0.27925	1.535997	-0.197143582234717	0.31641	1.792593	0.946490455403056	0.27709	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.14	3.33	0.37245	1.407000	0.34266	1.638000	0.27776	0.676000	0.76740	0.679000	0.28429	0.003000	0.18671	0.995000	0.73285	0.1799:0.0:0.8201:0.0	7.757	0.28095	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025176	0.090909	0.032609	0.002924	0.000000	0.008621	0.015244	0.000000	0.05263	2640.83	40	chr14	21080754	.	G	A	2640.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=849;ExcessHet=0.119;FS=1.555;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.046;SOR=0.571	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	17	0	2	0
chr14	21081617	21081617	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon14:c.G607A:p.G203S,ARHGEF40:NM_001278530:exon14:c.G607A:p.G203S,ARHGEF40:NM_018071:exon14:c.G2749A:p.G917S	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0211705450198	0.0017	0.000199681	0.0027	0.0003	0.0016	0	0.0055	0.0035	0.0039	0.0016	0.0020181	312	154602	rs201733631	0.0017	0.0017	0.0016	0.0019	0.0019	0.0017	0.0016	0.0017	0.0016	0.0001	0.0009	0.0003	0	0.0077	0.0012	0.0016	0.0014	0.0019	0.0021	0.0021	0.0021	0.0020	0.0034	0.0019	0.0018	0.0030	0.0029	0.0002	0	0.0001	0	0	0.0066	0	0.0034	0.0005	0.0010	0.28	0.15509	T	0.0	0.92824	D	0.921	0.51088	P	0.153	0.34292	B	0.000026	0.55875	D	0.000000	0.65133	0.30530	N	1.61	0.41143	L	4.55	0.01948	T	0.65	0.02332	N	0.515	0.54584	-0.8656	0.50856	T	0.004	0.01192	T	10	0.007643938	0.00174	T	0.021171	0.43897	T	0.163	0.42028	.	.	0.32306181527	0.31918	0.26922063904595595	0.26835	0.858213163411	0.68847	0.852758765221	0.90030	D	0.003082	0.02484	T	-0.467375	0.00883	T	-0.438861	0.28936	T	0.00887453946122677	0.00110	T	0.882912	0.60466	D	0.07179308	0.15922	0.089812376	0.21025	0.07179308	0.15922	0.089812376	0.21024	-3.692	0.19200	T	.	.	0.131	0.28290	B	.	.	4.113186	0.61418	24.3	0.99660596421688807	0.77883	0.95235	0.63939	D	AEFBI	0.384103	0.46536	N	-0.320902637279037	0.28356	1.563285	-0.177393707228005	0.32370	1.840926	0.999876802083593	0.44625	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.76	4.87	0.62877	3.182000	0.50611	11.923000	0.99841	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0872:0.0:0.9128:0.0	10.734	0.45312	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1146.33	85	chr14	21081617	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=933;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.668;SOR=0.534	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1464	18	0	1	0
chr14	21087322	21087322	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon21:c.G2104A:p.A702T,ARHGEF40:NM_018071:exon21:c.G4246A:p.A1416T	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0189261813073	0.0044	0.00139776	0.0042	0.0007	0.0014	0	0.0067	0.0056	0.0090	0.0032	0.0041138	636	154602	rs55901089	0.0062	0.0062	0.0062	0.0063	0.0071	0.0061	0.0061	0.0070	0.0070	0.0010	0.0016	0.0023	2.523e-05	0.0073	0.0011	0.0071	0.0063	0.0029	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0	0.0020	0.0029	0.0002	0.0063	0	0.0062	0.0019	0.0012	0.151	0.24564	T	0.045	0.49390	D	0.999	0.77913	D	0.96	0.70309	D	0.000248	0.46924	D	0.000000	0.607942	0.81001	D	1.445	0.36358	L	4.29	0.02462	T	-0.86	0.23372	N	0.488	0.52208	-0.7337	0.58776	T	0.012	0.04463	T	10	0.0101214945	0.00226	T	0.018926	0.41149	T	0.132	0.35948	.	.	0.503374072614	0.49975	0.37895161555303936	0.37810	0.840954648635	0.68066	0.708660542965	0.68400	T	0.009216	0.08406	T	-0.482514	0.00715	T	-0.463401	0.26230	T	0.0202180144932467	0.00722	T	0.817418	0.47426	T	0.12174102	0.28621	0.1018196	0.24385	0.12174102	0.28621	0.1018196	0.24384	-5.781	0.44408	T	.	.	0.397	0.59427	A	.	.	5.133952	0.85931	28.7	0.99868614860540739	0.94637	0.85461	0.44596	D	AEFDBHCIJ	0.596229	0.59048	D	0.416373474756849	0.62321	4.446252	0.456048396387857	0.65108	4.782028	0.999999998924645	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.622129	0.49086	0	.	.	5.05	5.05	0.67566	4.395000	0.59439	10.003000	0.83052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.898	0.63288	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	623.33	34	chr14	21087322	.	G	A	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.249;SOR=0.582	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr14	21343144	21343144	G	A	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377951:exon8:c.G931A:p.D311N,RPGRIP1:NM_001377523:exon9:c.G1426A:p.D476N,RPGRIP1:NM_001377950:exon9:c.G1426A:p.D476N,RPGRIP1:NM_001377949:exon10:c.G1534A:p.D512N,RPGRIP1:NM_001377948:exon12:c.G2374A:p.D792N,RPGRIP1:NM_020366:exon22:c.G3448A:p.D1150N	Cone-rod dystrophy 13;Leber congenital amaurosis 6	.	.	.	.	.	.	.	.	.	.	936548	Leber_congenital_amaurosis_6|Cone-rod_dystrophy_13|Inborn_genetic_diseases	MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.067330439918	.	.	1.656e-05	0	8.642e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs144704092	2.669e-05	2.668e-05	3.404e-05	1.926e-05	0.0002	1.998e-05	1.754e-05	2.286e-05	2.023e-05	2.987e-05	0	0	0	0	0.0002	3.148e-05	3.313e-05	0	2.627e-05	2.625e-05	3.856e-05	1.343e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	0.285	0.16520	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.92359	D	0.000002	0.62929	D	0.056668	0.999995	0.18878	N	1.78	0.46185	L	-1.66	0.82715	D	-2.59	0.55821	D	0.307	0.34659	-0.1827	0.78113	T	0.645	0.87618	D	10	0.36120522	0.52746	T	0.06733	0.70135	D	0.415	0.72555	.	.	0.879820416631	0.87864	0.3533098116720148	0.35244	0.0979035133984	0.11043	0.460170507431	0.33333	T	0.029367	0.40424	T	-0.158499	0.26992	T	-0.382584	0.35419	T	0.664957702159882	0.39113	D	0.747925	0.36851	T	0.3029188	0.53165	0.21792328	0.46476	0.3029188	0.53165	0.21792328	0.46475	-5.196	0.38901	T	0.6706834923487011	0.74558	0.171	0.44758	B	.;.;.;.;.	.;.;.;.;.	2.937103	0.39040	20.9	0.99621329675856296	0.75413	0.69642	0.34269	D	AEFDGBI	0.394881	0.47196	N	0.208467109694923	0.51608	3.340773	0.131061340383183	0.46146	2.865433	0.999999854819966	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.06	4.17	0.48303	3.010000	0.49246	5.542000	0.48872	-0.162000	0.11565	0.569000	0.27497	1.000000	0.68203	0.954000	0.50415	0.0872:0.0:0.9128:0.0	11.083	0.47291	946	0.12043	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1221.33	34	chr14	21343144	.	G	A	1221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=729;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.392;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	1	0
chr14	21522763	21522763	A	G	exonic	SALL2	.	nonsynonymous SNV	SALL2:NM_001364564:exon2:c.T2959C:p.S987P,SALL2:NM_005407:exon2:c.T2965C:p.S989P	.	418	1096	8	0	0	8	0.00363636	.	.	.	2112907	not_provided|SALL2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.026130439479	0.0007	0.000798722	0.0014	0.0002	0.0007	0.0001	0	0.0012	0.0025	0.0065	0.0013454	208	154602	rs142138768	0.0013	0.0013	0.0011	0.0015	0.0062	0.0013	0.0012	0.0057	0.0055	0.0002	0.0007	0.0031	0	9.669e-05	0.0038	0.0011	0.0013	0.0062	0.0012	0.0012	0.0011	0.0013	0.0046	0.0010	0.0010	0.0031	0.0026	0.0003	0	0.0010	0.0046	0	0	0.0034	0.0016	0.0009	0.0046	.	.	.	0.225	0.25514	T	.	.	.	.	.	.	0.001814	0.37945	N	0.000000	0.505787	0.81001	D	.	.	.	.	.	.	.	.	.	0.149	0.15187	-0.8386	0.52740	T	0.009	0.03183	T	10	0.005746722	0.00128	T	0.02613	0.49060	D	.	.	.	.	0.449572021084	0.44577	0.29481011299601995	0.29394	.	.	0.49945384264	0.38752	T	.	.	.	-0.437204	0.01343	T	-0.398178	0.33596	T	0.0137751992049427	0.00259	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11893	B	.	.	3.186646	0.43278	21.7	0.9981202950014304	0.89620	0.75520	0.36980	D	AEFBHCI	0.391752	0.47007	N	-0.215969385974554	0.32479	1.832067	-0.113501928229862	0.34844	2.009008	0.999999508830603	0.74766	0.645754	0.44609	0	0.670034	0.63936	0	0.696144	0.63334	0	0.59522	0.37078	0	.	.	4.88	3.73	0.41982	1.339000	0.33489	2.241000	0.31611	0.756000	0.94297	0.983000	0.35670	0.915000	0.28207	0.991000	0.66497	0.7172:0.1873:0.0955:0.0	4.938	0.13303	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1426.33	69	chr14	21522763	.	A	G	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.176;DP=803;ExcessHet=0;FS=3.288;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.443;SOR=0.764	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,115,1800	18	0	1	0
chr14	21569870	21569870	C	T	exonic	OR10G3	.	nonsynonymous SNV	OR10G3:NM_001005465:exon1:c.G875A:p.R292Q	.	430	1075	17	0	0	17	0.00784495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	0.0002	0.0189696	0.0076	0	0.0008	0.0269	0	0.0004	0.0044	0.0392	0.0068628	1061	154602	rs80295194	0.0036	0.0036	0.0026	0.0046	0.0386	0.0035	0.0035	0.0375	0.0371	0.0002	0.0004	0.0013	0.0360	5.616e-05	0.0033	0.0002	0.0043	0.0386	0.0028	0.0028	0.0017	0.0041	0.0487	0.0026	0.0025	0.0436	0.0416	9.627e-05	0	0.0003	0.0012	0.0314	0.0002	0	0.0002	0.0014	0.0487	0.001	0.78490	D	0.001	0.83351	D	0.993	0.65571	D	0.873	0.61978	P	0.001499	0.38855	N	0.000000	0.654061	0.32990	D	2.505	0.72935	M	1.01	0.41058	T	-3.59	0.69236	D	0.616	0.63204	-0.6105	0.64382	T	0.069	0.28247	T	10	0.006177366	0.00139	T	.	.	.	0.264	0.57741	.	.	0.597704877147	0.59451	0.45478495662110374	0.45396	0.269124446154	0.29430	0.221110790968	0.01375	T	0.009914	0.08996	T	-0.402472	0.02230	T	-0.32374	0.42162	T	0.0787024983272661	0.09820	T	0.948805	0.80311	D	0.81679505	0.85004	0.6693145	0.80601	0.81679505	0.85006	0.6693145	0.80601	-9.133	0.68549	D	.	.	0.243	0.49422	B	.;.;.	.;.;.	5.927558	0.94088	33	0.99938490617113651	0.99698	0.82675	0.41870	D	AEFBI	0.277651	0.39212	N	0.404861093063896	0.61688	4.373442	0.326886743542738	0.57124	3.877245	0.183700930105183	0.17906	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	4.81	0.61401	3.887000	0.55910	5.552000	0.48896	0.545000	0.25583	0.528000	0.27173	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	15.725	0.77514	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	1204.33	36	chr14	21569870	.	C	T	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=1151;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.187;SOR=1.033	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr14	21670301	21670301	A	G	exonic	OR4E1	.	nonsynonymous SNV	OR4E1:NM_001317107:exon1:c.T635C:p.V212A	.	991	528	2	1	0	4	0.00377358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36526787	0.53050	T	.	.	.	.	.	.	.	.	.	0.1284989547647132	0.12774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657134	0.26688	T	0.1312475	0.30600	0.45712894	0.68450	0.1312475	0.30600	0.45712894	0.68451	-5.155	0.38481	T	.	.	0.127	0.26947	B	.;.	.;.	3.220571	0.43878	21.8	0.85991361281497047	0.16243	0.97785	0.77116	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999150532037893	0.38592	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.801169	0.47434	4.61	4.61	0.56724	5.061000	0.64149	6.439000	0.55649	0.756000	0.94297	0.307000	0.25387	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.100	0.58628	759	0.50631	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1637.33	34	chr14	21670301	.	A	G	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=1544;ExcessHet=0;FS=1.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.283;SOR=0.822	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	18	0	1	0
chr14	22875648	22875648	G	A	exonic	LRP10	.	nonsynonymous SNV	LRP10:NM_001329226:exon5:c.G700A:p.V234M,LRP10:NM_014045:exon5:c.G700A:p.V234M	.	418	1101	3	0	0	3	0.00136054	.	.	.	2378183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00838133348697	0.0002	.	0.0003	0	0.0002	0.0001	0	0.0002	0.0022	0.0007	0.0002652	41	154602	rs371755191	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	0.0002	7.652e-05	0.0002	0	0.0007	0.0003	0.0004	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0001	0	0	0	0.0002	0	0	0.0003	0	0.0010	0.005	0.65419	D	0.012	0.65728	D	0.999	0.77913	D	0.921	0.65636	D	0.000075	0.52346	D	0.130664	0.631194	0.30697	N	1.59	0.40313	L	2.24	0.17923	T	0.03	0.06612	N	0.41	0.45803	-0.9855	0.33711	T	0.078	0.31072	T	10	0.095564544	0.17078	T	0.008381	0.22181	T	0.152	0.39956	.	.	0.404453528171	0.40057	0.40637327055430866	0.40553	0.861056035107	0.68957	0.482477903366	0.36398	T	0.02444	0.18465	T	-0.397867	0.02391	T	-0.389836	0.34570	T	0.0995702296495438	0.12310	T	0.876912	0.58964	D	0.5594662	0.70481	0.5018372	0.71202	0.5594662	0.70482	0.5018372	0.71202	-6.515	0.50402	T	.	.	0.530	0.67195	A	.;.	.;.	4.915878	0.80924	27.4	0.9988294398179739	0.95892	0.83657	0.42760	D	AEFBCI	0.322722	0.42513	N	0.62681101258359	0.74877	6.207772	0.636322137877727	0.77595	6.709854	0.999996354944527	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	4.008000	0.56815	11.916000	0.99706	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.988000	0.63387	0.0809:0.1571:0.7619:0.0	8.408	0.31786	801	0.44448	CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1728.33	34	chr14	22875648	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=744;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.308;SOR=0.618	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1463	18	0	1	0
chr14	22886036	22886036	G	A	exonic	REM2	.	nonsynonymous SNV	REM2:NM_173527:exon4:c.G532A:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00786696637655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs956500859	5.474e-06	5.472e-06	1.361e-06	9.628e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	2.319e-05	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.398	0.10553	T	0.333	0.18395	T	0.968	0.56581	D	0.407	0.44712	B	0.007514	0.31355	N	0.358095	0.954632	0.37887	D	0.085	0.08345	N	-0.94	0.75325	T	-0.35	0.12847	N	0.219	0.24510	-1.0756	0.08225	T	0.035	0.15074	T	10	0.271663	0.44706	T	0.007867	0.20877	T	0.262	0.57482	0.479	0.55823	0.837653044268	0.83610	0.7242144609467647	0.72365	1.20038656011	0.80526	0.395933568478	0.24503	T	0.077799	0.35740	T	-0.089429	0.38169	T	-0.269381	0.47882	T	0.74610447883606	0.43069	D	0.255274	0.03954	T	0.23882689	0.46766	0.10486341	0.25194	0.23882689	0.46766	0.10486341	0.25194	-10.605	0.77448	D	.	.	0.366	0.57573	A	.	.	3.796999	0.54692	23.5	0.99840435486398194	0.92057	0.72090	0.35299	D	AEFBCI	0.191426	0.31862	N	-0.236269319614062	0.31655	1.777185	0.0086083369146923	0.40113	2.388845	0.999984173257749	0.51787	0.652421	0.48094	0	0.541556	0.11502	0	0.64067	0.45733	0	0.567892	0.33627	0	.	.	5.48	4.57	0.55860	1.412000	0.34322	5.733000	0.49532	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.948000	0.49324	0.1547:0.0:0.8453:0.0	10.529	0.44153	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1378.33	39	chr14	22886036	.	G	A	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.679;DP=724;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.456;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	18	0	1	0
chr14	22904990	22904990	G	A	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon7:c.C647T:p.A216V,RBM23:NM_001308044:exon7:c.C239T:p.A80V,RBM23:NM_001352762:exon8:c.C239T:p.A80V,RBM23:NM_018107:exon8:c.C701T:p.A234V,RBM23:NM_001077351:exon9:c.C749T:p.A250V,RBM23:NM_001352765:exon9:c.C701T:p.A234V,RBM23:NM_001352763:exon10:c.C749T:p.A250V,RBM23:NM_001352764:exon10:c.C881T:p.A294V,RBM23:NM_001352766:exon11:c.C749T:p.A250V	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0196778072524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449271677	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.236e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.029	0.56640	D	0.972	0.57405	D	0.76	0.56425	P	0.000003	0.62929	D	0.000000	0.999998	0.81001	D	2.13	0.59329	M	3.57	0.74159	T	-2.59	0.60827	D	0.638	0.65074	-0.0089	0.82072	T	0.495	0.80854	T	10	0.4372459	0.57872	T	0.019678	0.42104	T	0.235	0.53788	0.359	0.36222	0.879556519432	0.87838	0.30156648546647713	0.30069	0.160772206657	0.18148	0.561773717403	0.47518	T	0.147106	0.48503	T	0.0733253	0.61250	D	-0.0355956	0.67996	D	0.818558990955353	0.47665	D	0.976302	0.93870	D	0.3261616	0.55154	0.3450225	0.60191	0.3261616	0.55154	0.3450225	0.60190	-10.017	0.74133	D	.	.	0.519	0.65457	A	.;.;.;.;.	.;.;.;.;.	4.411789	0.68252	25.2	0.99915653365783774	0.98379	0.99136	0.91756	D	AEFBI	0.924278	0.90206	D	0.516530139413551	0.68066	5.166426	0.629689941122064	0.77105	6.615898	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.464000	0.96825	8.718000	0.78154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.836	0.92130	795	0.45444	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1678.33	34	chr14	22904990	.	G	A	1678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.088;DP=1171;ExcessHet=0;FS=3.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.034;SOR=1.123	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	18	0	1	0
chr14	22905233	22905233	C	T	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon6:c.G485A:p.R162H,RBM23:NM_001308044:exon6:c.G77A:p.R26H,RBM23:NM_001352762:exon7:c.G77A:p.R26H,RBM23:NM_018107:exon7:c.G539A:p.R180H,RBM23:NM_001077351:exon8:c.G587A:p.R196H,RBM23:NM_001352765:exon8:c.G539A:p.R180H,RBM23:NM_001352763:exon9:c.G587A:p.R196H,RBM23:NM_001352764:exon9:c.G719A:p.R240H,RBM23:NM_001352766:exon10:c.G587A:p.R196H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.00474953889521	.	.	7.461e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs370639272	4.72e-05	4.72e-05	3.403e-05	6.05e-05	0.0005	3.794e-05	3.476e-05	0.0004	0.0003	2.987e-05	2.236e-05	0	2.52e-05	0	0	1.978e-05	1.656e-05	0.0005	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.544e-05	0	0	0	0	4.409e-05	0	0.0002	0.027	0.49117	D	0.002	0.79402	D	0.935	0.62325	P	0.658	0.52749	P	0.004364	0.33816	N	0.191554	0.999999	0.81001	D	2.08	0.57402	M	2.22	0.18248	T	-4.5	0.80510	D	0.766	0.82559	-1.0604	0.11656	T	0.084	0.32814	T	10	0.47988185	0.60367	T	0.00475	0.11847	T	0.320	0.64215	0.563	0.68364	0.445410361449	0.44164	0.6680422598895513	0.66742	0.392550924744	0.40435	0.817374587059	0.84626	D	0.113597	0.43077	T	-0.0908143	0.37940	T	-0.0319656	0.68237	D	0.357026282038741	0.27293	T	0.988701	0.96153	D	0.42530015	0.62442	0.2821927	0.54206	0.42530015	0.62443	0.2821927	0.54205	-13.301	0.91832	D	.	.	0.903	0.86373	P	.;.;.;.;.;.	.;.;.;.;.;.	4.530451	0.71121	25.6	0.99946900418419149	0.99913	0.98992	0.89656	D	AEFBI	0.855353	0.77246	D	0.624174824848471	0.74708	6.178542	0.647109145603861	0.78394	6.86779	0.999999999999994	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.432000	0.79528	1.190000	0.24759	0.599000	0.40250	1.000000	0.71638	0.325000	0.24344	0.994000	0.71098	0.0:1.0:0.0:0.0	17.355	0.87222	795	0.45444	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1213.33	34	chr14	22905233	.	C	T	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=884;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.132;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	18	0	1	0
chr14	22929213	22929213	T	G	exonic	PRMT5	.	nonsynonymous SNV	PRMT5:NM_001039619:exon1:c.A13C:p.N5H,PRMT5:NM_001282953:exon1:c.A13C:p.N5H,PRMT5:NM_001282956:exon1:c.A13C:p.N5H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0062656355789	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.075e-05	1.94e-05	3	154602	rs750970626	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	6.247e-05	4.758e-05	0	2.236e-05	0	0	0	0	1.709e-05	1.656e-05	0.0001	1.975e-05	1.971e-05	2.573e-05	1.349e-05	2.418e-05	5.25e-06	2.46e-06	.	.	2.418e-05	0	0	0	0	0	0	1.472e-05	0.0005	0	0.024	0.91255	D	0.186	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.38	0.14588	N	0.399	0.44761	-1.0581	0.12235	T	0.073	0.29451	T	8	0.1365026	0.25970	T	0.006266	0.16435	T	0.149	0.39377	0.091	0.01065	0.35158688536	0.34763	.	.	.	.	.	.	.	.	.	.	-0.376256	0.03289	T	-0.541573	0.18143	T	0.10432717949152	0.12825	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	-3.834	0.25394	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	1.944794	0.24705	16.49	0.80925919542576374	0.13435	0.39789	0.26291	N	AEFDGBHCI	0.256161	0.37514	N	-0.515147306304915	0.21590	1.146895	-0.379516602588657	0.25608	1.409328	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.84	1.24	0.20416	0.167000	0.16419	1.198000	0.24816	0.665000	0.62972	0.923000	0.32050	0.975000	0.29991	0.995000	0.73285	0.1868:0.1997:0.0:0.6135	2.826	0.05149	785	0.46916	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2274.33	34	chr14	22929213	.	T	G	2274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.74;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	18	0	1	0
chr14	22982218	22982218	G	A	exonic	AJUBA	.	nonsynonymous SNV	AJUBA:NM_001289097:exon1:c.C49T:p.R17C,AJUBA:NM_032876:exon1:c.C49T:p.R17C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0638515102751	.	.	5.841e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs775431154	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	3.83e-05	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.49120	D	0.013	0.16609	B	0.001	0.04355	B	0.367501	0.13577	N	0.666605	0.998224	0.44650	D	0.55	0.14455	N	0.35	0.58029	T	-0.96	0.25551	N	0.341	0.43223	-1.0262	0.21690	T	0.097	0.36471	T	10	0.09364182	0.16588	T	0.063852	0.69096	D	0.191	0.46948	0.26	0.20315	0.650098381313	0.64719	0.20871546462106946	0.20787	.	.	0.827665925026	0.86205	D	0.063632	0.32225	T	-0.258872	0.13033	T	-0.293472	0.45411	T	0.328617779804051	0.26169	T	0.886711	0.61387	D	0.18222515	0.39431	0.25082722	0.50681	0.18222515	0.39431	0.25082722	0.50681	-7.164	0.55222	T	.	.	0.395	0.59291	A	.;.	.;.	5.409237	0.90547	31	0.99896609556803628	0.96971	0.56455	0.30122	D	AEFDBHCI	0.230019	0.35346	N	-0.260094858977091	0.30702	1.714433	-0.0775240192279132	0.36322	2.11226	0.99999994738021	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.94	4.04	0.46262	0.548000	0.23022	11.694000	0.94399	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0889:0.0:0.9111:0.0	11.256	0.48284	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2242.33	36	chr14	22982218	.	G	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.212;SOR=0.683	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1257	18	0	1	0
chr14	23042370	23042370	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G145A:p.G49S	.	422	1087	12	1	0	14	0.00639854	.	.	.	702814	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.729	.	0.0044	0.00838658	0.0075	0.0010	0.0034	0.0227	0.0116	0.0080	0.0100	0.0027	0.0073608	1138	154602	rs34457782	0.0071	0.0071	0.0071	0.0071	0.0256	0.0070	0.0069	0.0243	0.0238	0.0011	0.0034	0.0037	0.0256	0.0135	0.0062	0.0069	0.0070	0.0022	0.0060	0.0060	0.0061	0.0058	0.0274	0.0057	0.0055	0.0238	0.0224	0.0014	0.0022	0.0045	0.0043	0.0274	0.0114	0.0136	0.0069	0.0090	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.045	0.97016	H	-0.83	0.74159	T	-5.54	0.86149	D	0.919	0.92200	0.364	0.88549	D	0.482	0.80230	T	10	0.015518874	0.00326	T	.	.	.	0.729	0.90501	.	.	0.866298555364	0.86500	0.8804463649467902	0.88012	0.606206283353	0.55474	0.699628949165	0.67090	T	0.337988	0.70730	T	0.0627332	0.59955	T	0.334921	0.89713	D	0.0990738712007421	0.12255	T	0.999355	0.99761	D	0.8976179	0.91171	0.8813787	0.93659	0.8976179	0.91172	0.8813787	0.93659	-10.849	0.78823	D	.	.	0.567	0.67488	P	.	.	4.668839	0.74591	26.2	0.99871181506189666	0.94902	0.98998	0.89743	D	AEFDBI	0.877648	0.80243	D	0.948043336876363	0.93906	12.36122	0.840108728278102	0.92425	11.41898	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	8.961000	0.92959	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:0.0:1.0:0.0	17.980	0.89060	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.002924	0.000000	0.008621	0.009146	0.015152	0.05263	3153.83	35	chr14	23042370	.	G	A	3153.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.39;DP=892;ExcessHet=0.119;FS=3.363;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=2.94;SOR=0.891	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	17	0	2	0
chr14	23048314	23048314	G	C	exonic	CDH24	.	nonsynonymous SNV	CDH24:NM_144985:exon12:c.C2012G:p.A671G,CDH24:NM_022478:exon13:c.C2126G:p.A709G	.	415	1095	10	2	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0583112313659	0.0002	0.000599042	0.0020	0.0001	0.0026	0	0.0005	0.0028	0.0037	0.0013	0.0016429	254	154602	rs150958098	0.0017	0.0017	0.0016	0.0018	0.0075	0.0016	0.0016	0.0056	0.0050	0.0011	0.0018	0.0044	0	0.0003	0.0075	0.0016	0.0022	0.0021	0.0014	0.0014	0.0014	0.0014	0.0022	0.0012	0.0012	0.0019	0.0018	0.0003	0.0077	0.0009	0.0040	0	0	0.0137	0.0022	0.0019	0.0017	0.403	0.11586	T	0.372	0.16376	T	0.014	0.21471	B	0.02	0.29179	B	0.283881	0.14894	N	0.638188	0.994851	0.23428	N	0.64	0.16041	N	-1.06	0.76819	T	-1.13	0.29114	N	0.126	0.15187	-0.8807	0.49706	T	0.260	0.63066	T	10	0.007851124	0.00178	T	0.058311	0.67275	D	0.170	0.43303	.	.	0.848968810855	0.84752	0.3658080582750518	0.36494	0.531012049618	0.50620	0.747675299644	0.74104	T	0.006708	0.06137	T	-0.410667	0.01967	T	-0.367908	0.37134	T	0.0124287114484385	0.00204	T	0.89741	0.68297	D	0.10995612	0.25994	0.074940205	0.16448	0.10995612	0.25994	0.074940205	0.16447	-5.173	0.39064	T	.	.	0.082	0.09143	B	.;.;.;.;.	.;.;.;.;.	2.861978	0.37822	20.6	0.97670027955406935	0.35247	0.53897	0.29483	D	AEFBI	0.104775	0.20953	N	-0.292451749646203	0.29438	1.632533	-0.159402145967213	0.33048	1.886398	0.99999576204799	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	3.91	3.91	0.44383	3.577000	0.53631	11.296000	0.92177	0.564000	0.28548	0.943000	0.32764	1.000000	0.68203	0.288000	0.24212	0.1063:0.0:0.8937:0.0	8.775	0.33915	801	0.44448	.;Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.;Cadherin, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.025253	0.009511	0.014620	0.000000	0.017241	0.006098	0.000000	0.02632	170.33	36	chr14	23048314	.	G	C	170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=683;ExcessHet=0;FS=10.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.34;ReadPosRankSum=-1.378;SOR=1.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	18	0	1	0
chr14	23055229	23055229	C	T	exonic	CDH24	.	nonsynonymous SNV	CDH24:NM_022478:exon3:c.G326A:p.R109Q,CDH24:NM_144985:exon3:c.G326A:p.R109Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.129252120227	.	.	4.121e-05	0	0	0	0	5.997e-05	0	6.056e-05	3.23e-05	5	154602	rs768201023	1.3e-05	1.3e-05	1.225e-05	1.375e-05	4.637e-05	8.31e-06	6.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	4.89	0.99766	H	0.27	0.59176	T	-3.73	0.71157	D	0.903	0.90363	0.623	0.92199	D	0.602	0.85825	D	10	0.94541526	0.93867	D	0.129252	0.81128	D	0.566	0.82289	0.866	0.96104	0.864803184734	0.86348	0.8891321970559015	0.88882	1.23802410932	0.81522	0.616815149784	0.55279	T	0.36103	0.72718	T	0.0898015	0.63167	D	0.0216682	0.71738	D	0.998621463775635	0.94678	D	0.999654	0.99877	D	0.7965305	0.83685	0.73468035	0.84319	0.7965305	0.83687	0.73468035	0.84320	-12.882	0.88871	D	.	.	0.989	0.93209	P	.;.;.;.;.	.;.;.;.;.	5.732741	0.93289	33	0.99950776610985226	0.99944	0.98884	0.88144	D	AEFBI	0.914749	0.87856	D	0.945956456199907	0.93822	12.30159	0.756032282777495	0.86608	8.943806	0.999999999968406	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.72	3.72	0.41857	7.568000	0.81546	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	14.769	0.69287	810	0.42761	.;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1286.33	38	chr14	23055229	.	C	T	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=772;ExcessHet=0;FS=2.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.15;SOR=0.455	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1300,0,1373	18	0	1	0
chr14	23079657	23079657	G	A	exonic	ACIN1	.	nonsynonymous SNV	ACIN1:NM_001164815:exon5:c.C1732T:p.R578C,ACIN1:NM_001164814:exon6:c.C1852T:p.R618C,ACIN1:NM_014977:exon6:c.C1852T:p.R618C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0317459635667	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs115188299	3.42e-06	3.42e-06	0	6.875e-06	5.974e-05	1e-06	7.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.547e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.008	0.69154	D	0.996	0.77913	D	0.65	0.55359	P	0.324890	0.14210	N	0.585786	1	0.08975	N	0.805	0.20218	L	2.12	0.29342	T	-1.64	0.43717	N	0.191	0.25989	-1.0534	0.13466	T	0.074	0.29865	T	10	0.14641017	0.27759	T	0.031746	0.53753	D	0.126	0.34673	0.307	0.27806	0.335408717102	0.33150	0.323624446483598	0.32275	0.172119073416	0.19381	0.252754539251	0.04063	T	0.155616	0.49743	T	-0.250688	0.14014	T	-0.597873	0.12990	T	0.667723306542388	0.39236	D	0.770523	0.40040	T	0.16225961	0.36289	0.06645722	0.13616	0.16225961	0.36289	0.06645722	0.13616	-7.423	0.57066	T	.	.	0.093	0.27069	B	.;.;.;.	.;.;.;.	3.525554	0.49441	22.8	0.99616519192905129	0.75172	0.25030	0.22576	N	AEFBCI	0.126618	0.24364	N	-0.358643944104393	0.26955	1.475208	-0.44630513686209	0.23653	1.291068	0.999903136472185	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635259	0.50027	0	.	.	5.48	0.441	0.15789	1.332000	0.33410	1.307000	0.25513	-0.273000	0.06669	0.655000	0.28216	0.351000	0.24472	0.987000	0.62547	0.2335:0.281:0.4855:0.0	5.153	0.14348	807	0.43470	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3645.33	121	chr14	23079657	.	G	A	3645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=1652;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.505;SOR=0.692	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr14	23080669	23080669	-	TCCTCC	exonic	ACIN1	.	nonframeshift insertion	ACIN1:NM_001164815:exon5:c.719_720insGGAGGA:p.E241_D242insEE,ACIN1:NM_001164814:exon6:c.839_840insGGAGGA:p.E281_D282insEE,ACIN1:NM_014977:exon6:c.839_840insGGAGGA:p.E281_D282insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761222601	4.789e-06	4.788e-06	4.084e-06	5.501e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.994e-07	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5308.63	39	chr14	23080669	.	T	TTCCTCC	5308.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=1017;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=15.43;ReadPosRankSum=0.446;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr14	23103736	23103736	A	C	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon4:c.T542G:p.V181G	.	603	918	1	0	0	1	0.000544366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0027	0	0.0061	0	.	0	0	0.0041	0.0002587	40	154602	rs566474675	0.0006	0.0005	0.0003	0.0008	0.0042	0.0005	0.0005	0.0038	0.0037	0	2.881e-05	0	0	0	0.0010	0.0001	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	4.411e-05	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01017651	0.00228	T	.	.	.	.	.	.	.	.	.	0.637993394475441	0.63733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29517	0.05631	T	0.36865905	0.58485	0.6549523	0.79800	0.36865905	0.58486	0.6549523	0.79801	-9.461	0.70616	D	.	.	0.435	0.61465	A	.;.;.	.;.;.	3.544899	0.49806	22.8	0.81783666043723924	0.13858	0.98803	0.87055	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999991267	0.74766	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.972864	0.75250	5.69	5.69	0.88346	6.257000	0.72439	9.077000	0.78706	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.900	0.63303	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	33.33	.	chr14	23103736	.	A	C	33.33	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=-0.1315;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	10	0	1	8
chr14	23104886	23104886	-	GCA	exonic	LMLN2	.	nonframeshift insertion	LMLN2:NM_001354640:exon1:c.34_35insTGC:p.L11_P12insL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0103	0	0.01	0	0.0016	0	0.0020	0.00011	17	154602	rs781677359	0.0014	0.0011	0.0014	0.0015	0.0064	0.0013	0.0013	0.0056	0.0053	0.0047	0.0019	0.0017	0.0064	0	0.0015	0.0007	0.0017	0.0014	0.0045	0.0046	0.0048	0.0041	0.0060	0.0040	0.0038	0.0052	0.0050	0.0060	0.0116	0.0028	0.0051	0.0031	0	0	0.0026	0.0041	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1508.55	16	chr14	23104886	.	G	GGCA	1508.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.518;DP=304;ExcessHet=1.4774;FS=3.102;InbreedingCoeff=-0.1553;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=0.298;SOR=0.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:6:.:.:0,6,90:.	16	0	1	2
chr14	23131502	23131502	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon5:c.C400T:p.H134Y,SLC7A8:NM_001267036:exon6:c.C757T:p.H253Y,SLC7A8:NM_182728:exon6:c.C463T:p.H155Y,SLC7A8:NM_012244:exon8:c.C1072T:p.H358Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.194564404984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.74150	D	0.997	0.70673	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	-2.58	0.89757	D	-3.81	0.80767	D	0.966	0.98167	0.342	0.88215	D	0.576	0.84712	D	10	0.87443686	0.86727	D	0.194564	0.86370	D	0.927	0.98229	0.619	0.75347	0.947902983698	0.94735	0.9541465314633848	0.95398	0.687941237011	0.60407	0.859738469124	0.91072	D	0.964808	0.99571	D	0.487163	0.93926	D	0.462	0.93849	D	0.995470396994292	0.87491	D	0.970103	0.97709	D	0.781557	0.82750	0.71590316	0.83232	0.781557	0.82751	0.71590316	0.83233	-9.444	0.70510	D	.	.	0.961	0.88170	P	.;.;.;.	.;.;.;.	5.004488	0.83057	27.9	0.99796855769286708	0.88194	0.99110	0.91373	D	AEFDBI	0.959787	0.98029	D	0.684706084232571	0.78631	6.910506	0.687249985628692	0.81409	7.520147	0.999999999999992	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.669	0.65921	0	.	.	5.05	5.05	0.67566	10.003000	0.99689	11.755000	0.95496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.179	0.86729	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	945.33	53	chr14	23131502	.	G	A	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.005;DP=764;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.868;SOR=0.504	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1265	18	0	1	0
chr14	23143164	23143164	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon2:c.C31A:p.H11N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0612071783793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.04	0.85703	D	-1.21	0.30762	N	0.557	0.58202	-0.5067	0.68406	T	0.424	0.76850	T	8	0.30361968	0.47892	T	0.061207	0.68255	D	0.249	0.55752	0.26	0.20315	0.77086461317	0.76876	.	.	.	.	.	.	.	.	.	.	0.195092	0.73434	D	0.0424595	0.73088	D	0.261628549795234	0.23386	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-4.526	0.31227	T	.	.	0.074	0.04975	B	.	.	1.105303	0.14901	11.42	0.9727068673379361	0.33135	0.79891	0.39680	D	AEFGBI	0.079748	0.16113	N	-0.150168534927963	0.35227	2.020759	-0.00403354956185389	0.39534	2.345408	0.99999755809117	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	3.94	0.44807	0.809000	0.26827	4.617000	0.44060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1475:0.0:0.712:0.1405	6.897	0.23443	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	97.8	34	chr14	23143164	.	G	T	97.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.07;DP=1015;ExcessHet=0;FS=29.335;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.65;SOR=4.915	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	17	0	1	1
chr14	23166412	23166412	C	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon2:c.G280A:p.A94T	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	0.387689154592	0.0012	0.00199681	0.0020	0.0002	0.0008	0	0	0.0019	0.0011	0.0065	0.0018176	281	154602	rs139927895	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	0.0001	0.0005	0.0010	0	0.0002	0.0066	0.0011	0.0018	0.0067	0.0012	0.0012	0.0010	0.0013	0.0099	0.0010	0.0010	0.0077	0.0069	4.812e-05	0	0.0011	0.0014	0	0.0002	0.0034	0.0015	0.0009	0.0099	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	-2.84	0.96627	D	-3.87	0.72710	D	0.974	0.98466	1.081	0.98923	D	0.945	0.98187	D	10	0.024234027	0.00966	T	0.387689	0.93117	D	0.944	0.98851	.	.	0.964823795932	0.96444	0.8698954390141063	0.86954	0.629356187497	0.56977	0.763663351536	0.76475	T	0.909111	0.98275	D	0.221776	0.75943	D	0.549096	0.95606	D	0.0682530187562695	0.08404	T	0.981102	0.99030	D	0.66472256	0.76151	0.70855004	0.82812	0.6528424	0.75517	0.6968559	0.82149	-9.879	0.73184	D	.	.	0.714	0.73529	P	.;.;.	.;.;.	5.176175	0.86775	29.0	0.99931617124976724	0.99387	0.98040	0.79094	D	AEFBI	0.947660	0.95846	D	0.936903531390315	0.93447	12.04533	0.89314823391669	0.95268	13.46263	1.0	0.98316	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.49	5.49	0.81022	7.858000	0.85341	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.514	0.90878	876	0.30350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.006793	0.005848	0.000000	0.017241	0.009202	0.003788	0.05263	3078.83	33	chr14	23166412	.	C	T	3078.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.643;DP=888;ExcessHet=0.119;FS=0.925;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.84;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	17	0	2	0
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.02632	2424.33	33	chr14	23182829	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=852;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.456;SOR=0.74	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr14	23277121	23277121	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon2:c.G107A:p.S36N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00698164053588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.287	0.22694	T	0.0	0.02946	B	0.002	0.06944	B	0.000094	0.51296	D	0.171585	0.983936	0.24843	N	0.975	0.24501	L	1.63	0.28002	T	-0.27	0.14782	N	0.254	0.28732	-1.0480	0.14960	T	0.047	0.20275	T	10	0.121350974	0.23002	T	0.006982	0.18485	T	0.031	0.07369	0.19	0.10039	0.259272394797	0.25527	0.2679277317043338	0.26705	0.354932647946	0.37257	0.376159489155	0.21712	T	0.00622	0.05657	T	-0.238617	0.15525	T	-0.580533	0.14497	T	0.362544864416122	0.27508	T	0.786321	0.42483	T	0.079428785	0.18147	0.11575161	0.27944	0.079428785	0.18146	0.11575161	0.27943	-5.372	0.40650	T	.	.	0.121	0.40081	B	.;.	.;.	2.913562	0.38653	20.8	0.9878968615127024	0.46269	0.80812	0.40355	D	AEFDBI	.	.	.	-0.274817099345431	0.30124	1.676797	-0.0933578211430236	0.35664	2.066013	0.990931394832595	0.32317	0.706548	0.73137	0	0.633656	0.55848	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	5.95	4.13	0.47661	3.740000	0.54802	2.611000	0.33577	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.7615:0.161:0.0776	9.303	0.37020	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2033.33	149	chr14	23277121	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=885;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.263;SOR=0.96	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr14	23358934	23358934	G	A	exonic	EFS	.	nonsynonymous SNV	EFS:NM_032459:exon4:c.C914T:p.P305L,EFS:NM_001277174:exon5:c.C686T:p.P229L,EFS:NM_005864:exon5:c.C1193T:p.P398L	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0002	0.00259585	0.0022	9.81e-05	0.0016	0	0	0.0006	0.0023	0.0132	0.0019211	297	154602	rs201333215	0.0011	0.0011	0.0007	0.0015	0.0130	0.0010	0.0010	0.0123	0.0121	8.981e-05	0.0008	0.0013	0	1.877e-05	0.0024	0.0003	0.0013	0.0130	0.0008	0.0008	0.0005	0.0010	0.0145	0.0006	0.0006	0.0118	0.0108	4.81e-05	0	0.0003	0.0026	0	0	0.0102	0.0004	0.0005	0.0145	0.062	0.36912	T	0.378	0.16086	T	0.001	0.07471	B	0.001	0.04355	B	0.249359	0.03636	N	1.629830	0.950212	0.28817	N	-1.1	0.00987	N	1.99	0.21666	T	2.86	0.00162	N	0.115	0.10483	-1.0279	0.21136	T	0.019	0.07800	T	10	0.002263546	0.00033	T	.	.	.	0.038	0.09825	.	.	0.119812018005	0.11559	0.20898062588966046	0.20814	0.113064990156	0.12762	0.278318315744	0.07259	T	0.019743	0.15670	T	-0.688733	0.00043	T	-0.751063	0.03444	T	0.0132429478948653	0.00236	T	0.59824	0.22282	T	0.049543455	0.08812	0.042803884	0.05182	0.049543455	0.08812	0.042803884	0.05182	-4.506	0.31408	T	.	.	0.056	0.01075	B	.;.;.	.;.;.	-0.022831	0.04126	0.981	0.87749517154781342	0.17453	0.10316	0.15856	N	AEFDBI	0.046101	0.07616	N	-1.14205383069102	0.05911	0.2707748	-1.05398034234484	0.08624	0.4249459	0.999993385595966	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	5.06	-4.23	0.03530	-0.822000	0.04555	-0.612000	0.08217	-0.102000	0.15922	0.001000	0.13787	0.000000	0.08366	0.638000	0.32368	0.3332:0.1379:0.3749:0.1541	1.835	0.02947	479	0.77495	CAS family, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1312.33	35	chr14	23358934	.	G	A	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=746;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.727;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	18	0	1	0
chr14	23389488	23389488	C	G	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon28:c.G3883C:p.E1295Q	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1492	30	0	0	30	0.00995355	.	.	.	53659	Hypertrophic_cardiomyopathy_14|Cardiomyopathy|not_specified|Restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.768	.	0.0030	0.00419329	0.0032	0.0006	0.0020	0.0175	0.0002	0.0026	0.0011	0.0024	0.003247	502	154602	rs34935550	0.0031	0.0031	0.0032	0.0031	0.0125	0.0031	0.0030	0.0116	0.0112	0.0007	0.0025	0.0015	0.0125	0.0002	0.0028	0.0031	0.0036	0.0022	0.0027	0.0027	0.0028	0.0027	0.0166	0.0025	0.0024	0.0138	0.0127	0.0006	0	0.0031	0.0017	0.0166	0.0003	0.0102	0.0033	0.0033	0.0027	0.001	0.78490	D	0.031	0.53788	D	0.993	0.65571	D	0.952	0.69102	D	.	.	.	.	0.999999	0.58761	D	3.02	0.86243	M	-1.55	0.81727	D	-2.12	0.48184	N	0.422	0.49420	0.499	0.90527	D	0.623	0.86718	D	9	0.010231346	0.00228	T	.	.	.	0.768	0.92170	.	.	0.925674000131	0.92491	0.4420870300183488	0.44125	0.787938224428	0.65625	0.565877318382	0.48096	T	0.664995	0.89991	D	-0.234432	0.16067	T	-0.0965478	0.63665	T	0.0172787489390638	0.00469	T	0.955504	0.83071	D	0.2839171	0.51421	0.34163815	0.59901	0.28292412	0.51327	0.43828914	0.67220	-14.923	0.95669	D	0.5510836441010479	0.61968	0.363	0.57386	A	.;.	.;.	4.496248	0.70279	25.5	0.99857872241100321	0.93639	0.98380	0.82188	D	AEFBI	0.962112	0.98360	D	0.862928964111963	0.89831	10.136	0.775668712946799	0.88058	9.441128	0.999999999913264	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.764000	0.84130	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.870	0.88723	368	0.84463	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2615.33	35	chr14	23389488	.	C	G	2615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=853;ExcessHet=0;FS=3.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.133;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	18	0	1	0
chr14	23407154	23407154	G	T	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon3:c.C70A:p.L24I	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1521	1	0	0	1	0.000328623	.	.	.	175436	not_specified|Hypertrophic_cardiomyopathy_14|MYH6-related_disorder|Cardiovascular_phenotype|not_provided|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|.|MedGen:CN230736|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0197852521294	.	0.00119808	0.0007	0	0	0	0	1.499e-05	0	0.0051	0.0005886	91	154602	rs573489857	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	5.038e-05	0	0	3.597e-06	0.0006	0.0050	0.0001	0.0001	0.0001	0.0002	0.0046	9.733e-05	8.249e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	1.0	0.00964	T	0.811	0.03933	T	0.005	0.12996	B	0.021	0.19346	B	.	.	.	.	0.998295	0.44734	D	1.415	0.35607	L	-1.99	0.85320	D	-0.21	0.10308	N	0.196	0.21580	-0.7051	0.60193	T	0.301	0.67214	T	9	0.008678585	0.00197	T	0.019785	0.42241	T	0.170	0.43303	0.366	0.37361	0.77557736996	0.77351	0.2545036309122597	0.25364	0.383871402863	0.39705	0.603444814682	0.53391	T	0.245042	0.61427	T	-0.37402	0.03395	T	-0.30894	0.43773	T	0.019801623703647	0.00682	T	0.711729	0.32279	T	0.087461635	0.20366	0.10294642	0.24686	0.07748433	0.17590	0.10538122	0.25331	-1.611	0.02007	T	0.17404105925954416	0.22081	0.141	0.30945	B	.;.	.;.	3.128827	0.42274	21.5	0.43841076429237591	0.03329	0.79315	0.39279	D	AEFBI	0.730796	0.67808	D	-0.520540628985153	0.21416	1.136424	-0.337501486955383	0.26898	1.488814	0.986252755045077	0.31031	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.53	3.53	0.39533	0.659000	0.24677	-1.858000	0.04600	0.672000	0.70159	0.423000	0.26353	0.000000	0.08366	0.995000	0.73285	0.0:0.0:0.8227:0.1773	11.685	0.50741	388	0.83355	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1617.33	34	chr14	23407154	.	G	T	1617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.198;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.212;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1380	18	0	1	0
chr14	23523385	23523385	C	G	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon9:c.G6557C:p.S2186T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.120198719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.52727	D	0.993	0.65571	D	0.823	0.59197	P	0.000058	0.53742	D	0.000000	1	0.81001	D	2.3	0.65703	M	-1.23	0.78860	T	-1.12	0.28906	N	0.227	0.25499	-0.0018	0.82219	T	0.484	0.80306	T	10	0.2767756	0.45241	T	0.120199	0.80068	D	0.371	0.69016	0.241	0.17371	0.45553875121	0.45177	0.30552572672985057	0.30465	.	.	0.7548609972	0.75165	T	0.003178	0.02586	T	0.0306367	0.55808	T	-0.193769	0.55237	T	0.939332485198975	0.61071	D	0.618038	0.23687	T	0.18260776	0.39487	0.20068252	0.44011	0.18260776	0.39487	0.20068252	0.44010	-3.904	0.22362	T	.	.	0.148	0.32661	B	.	.	3.650323	0.51800	23.1	0.99640218188506025	0.76633	0.92330	0.55463	D	AEFDBI	0.529357	0.55050	D	0.407363383009425	0.61827	4.389128	0.393014286699129	0.61134	4.30935	0.999993691649457	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	4.42	4.42	0.52775	1.283000	0.32843	2.270000	0.31824	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	15.963	0.79738	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	712.33	52	chr14	23523385	.	C	G	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=803;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.06;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,26:65:99:726,0,1056	18	0	1	0
chr14	23523921	23523921	T	G	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon9:c.A6021C:p.E2007D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00740778393947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	0.02176	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.964332	0.08202	N	0.979946	0.730329	0.33712	D	-1.155	0.00891	N	-1.22	0.78752	T	1.49	0.00747	N	0.088	0.06587	-0.9668	0.37854	T	0.139	0.45678	T	10	0.015668929	0.00329	T	0.007408	0.19657	T	0.173	0.43840	0.335	0.32329	0.124217242631	0.12060	0.2105396033881482	0.20969	.	.	0.4465893507	0.31478	T	5.42E-4	0.00213	T	-0.250569	0.14027	T	-0.597702	0.13004	T	0.0391350611686787	0.03534	T	0.526147	0.17328	T	0.044145893	0.07007	0.032478202	0.01991	0.044145893	0.07007	0.032478202	0.01990	-4.987	0.36698	T	.	.	0.059	0.00847	B	.	.	-1.330310	0.00413	0.008	0.58683780668610763	0.06049	0.01609	0.05211	N	AEFDBI	0.033012	0.03838	N	-1.73155604668946	0.00736	0.03176659	-1.74946313231088	0.00935	0.04185724	0.999999878545077	0.74766	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.67	-9.34	0.00539	-2.487000	0.01054	-6.111000	0.01493	-0.736000	0.03693	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.1732:0.0:0.3085:0.5183	7.607	0.27275	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	71	chr14	23523921	.	T	G	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.009;DP=1057;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.549;SOR=0.738	GT:AD:DP:GQ:PL	0/1:61,52:115:99:1154,0,1588	18	0	1	0
chr14	23556933	23556933	A	C	exonic	THTPA	.	nonsynonymous SNV	THTPA:NM_001256062:exon1:c.A176C:p.D59A,THTPA:NM_001256322:exon1:c.A176C:p.D59A,THTPA:NM_024328:exon1:c.A176C:p.D59A,THTPA:NM_001126339:exon2:c.A176C:p.D59A,THTPA:NM_001256321:exon2:c.A176C:p.D59A,THTPA:NM_001256323:exon2:c.A176C:p.D59A	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0102642061013	7.7e-05	0.000399361	9.172e-05	0.0005	8.75e-05	0	0	7.584e-05	0	0	8.41e-05	13	154602	rs140606262	0.0001	0.0001	9.801e-05	0.0001	0.0010	9.091e-05	8.598e-05	0.0005	0.0003	5.974e-05	0	3.826e-05	0	0	0.0010	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.404e-05	0.0002	7.09e-05	5.747e-05	0.0001	9.901e-05	7.223e-05	0	0	0	0	0	0	0.0002	0	0	0.033	0.45756	D	0.047	0.53426	D	0.004	0.12183	B	0.006	0.12133	B	0.004974	0.33218	N	0.342940	0.700885	0.33420	D	1.245	0.31408	L	0.83	0.47815	T	-1.18	0.38924	N	0.321	0.44761	-1.0182	0.24301	T	0.078	0.31012	T	10	0.031126946	0.01244	T	0.010264	0.26588	T	0.034	0.08419	.	.	0.348101942276	0.34424	0.5563201019673493	0.55559	0.0171494012742	0.01662	0.24168035388	0.02943	T	0.062336	0.63029	T	-0.319242	0.06960	T	-0.416911	0.31430	T	0.0332134485166146	0.02507	T	0.631037	0.24617	T	0.4041689	0.61020	0.11229771	0.27095	0.4041689	0.61020	0.11229771	0.27094	-3.631	0.32830	T	.	.	0.107	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	3.645166	0.51706	23.1	0.98537412931471047	0.42670	0.54278	0.29577	D	AEFDBHCI	0.162745	0.28895	N	-0.36146123986861	0.26853	1.468776	-0.210209897653969	0.31168	1.761408	0.999999610058404	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	5.91	2.8	0.31881	1.878000	0.39244	3.898000	0.40333	-0.043000	0.17390	0.986000	0.36153	1.000000	0.68203	0.961000	0.51904	0.4079:0.0:0.5921:0.0	7.112	0.24576	518	0.74548	CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain;.;CYTH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4686.83	33	chr14	23556933	.	A	C	4686.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.89;DP=998;ExcessHet=0.119;FS=3.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.456;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	17	0	2	0
chr14	23645172	23645172	C	T	exonic	DHRS2	.	nonsynonymous SNV	DHRS2:NM_182908:exon9:c.C773T:p.S258L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00886401262002	.	0.000199681	0.0002	0	0.0004	0.0005	0	2.997e-05	0	0.0005	0.0001358	21	154602	rs558436886	0.0001	0.0001	0.0001	9.488e-05	0.0007	8.847e-05	8.333e-05	0.0005	0.0005	5.974e-05	0.0002	0	0.0003	0	0	6.025e-05	8.28e-05	0.0007	8.536e-05	8.529e-05	0.0001	6.713e-05	0.0006	4.954e-05	3.96e-05	0.0002	9.011e-05	4.811e-05	0	6.534e-05	0	0.0002	0	0	8.82e-05	0	0.0006	0.391	0.10802	T	0.609	0.07716	T	.	.	.	.	.	.	0.692613	0.10162	N	0.795303	0.97475	0.39131	D	.	.	.	-1.48	0.81150	T	1.66	0.00606	N	0.166	0.17553	-0.9439	0.41992	T	0.218	0.58020	T	9	0.020032942	0.00455	T	0.008864	0.23366	T	0.399	0.71321	.	.	0.139678290688	0.13603	0.1459171788504563	0.14513	0.0174981928054	0.01705	0.236807972193	0.02510	T	.	.	.	-0.273067	0.11418	T	-0.262426	0.48582	T	0.0219045419432725	0.00898	T	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-3.44	0.15600	T	.	.	0.099	0.16626	B	.;.	.;.	0.363834	0.07365	3.984	0.91366743019149177	0.20631	0.04348	0.09914	N	AEFBHCI	0.024398	0.01506	N	-1.2147734013554	0.04785	0.2166982	-1.32834398779745	0.04068	0.1911046	0.999999995566432	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.586402	0.36253	0	.	.	4.03	-7.3	0.01298	-2.886000	0.00780	-12.295000	0.00536	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.939000	0.47918	0.2156:0.1711:0.0:0.6133	6.645	0.22122	800	0.44535	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1987.33	35	chr14	23645172	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.602;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1441	18	0	1	0
chr14	23955153	23955153	G	A	exonic	DHRS4	.	nonsynonymous SNV	DHRS4:NM_001282987:exon2:c.G247A:p.V83M,DHRS4:NM_001282988:exon2:c.G247A:p.V83M,DHRS4:NM_001282989:exon2:c.G247A:p.V83M,DHRS4:NM_001282990:exon2:c.G247A:p.V83M,DHRS4:NM_001282991:exon2:c.G247A:p.V83M,DHRS4:NM_021004:exon2:c.G247A:p.V83M	.	392	1126	3	1	0	5	0.00221533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.710	0.143895341407	.	0.00119808	0.0006	0	8.67e-05	0	0	0	0	0.0045	0.0002305	6	26028	rs566393352	0.0002	0.0002	8.987e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0.0002	4.475e-05	0	0	0	0.0003	5.396e-06	0.0002	0.0030	0.0001	0.0001	8.991e-05	0.0002	0.0029	8.655e-05	7.249e-05	0.0018	0.0014	9.617e-05	0	0.0001	0	0	0	0	0	0	0.0029	0.028	0.48642	D	0.073	0.52389	T	0.979	0.90584	D	0.795	0.68536	P	0.000000	0.84330	D	0.000000	0.999845	0.49770	D	2.615	0.76484	M	0.49	0.90451	T	-2.51	0.57275	D	0.667	0.74462	0.698	0.93155	D	0.790	0.92889	D	10	0.030568749	0.01184	T	0.143895	0.82618	D	0.710	0.89650	0.781	0.90541	0.982328220797	0.98213	0.7038510119493194	0.70327	0.662870960301	0.58999	0.747107505798	0.74020	T	0.233511	0.93617	T	0.238286	0.77499	D	0.104505	0.77206	D	0.139137863310056	0.16201	T	.	.	.	0.8836937	0.89974	0.72215885	0.83593	0.8836937	0.89975	0.72215885	0.83593	-12.053	0.85773	D	.	.	0.652	0.72336	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.962571	0.82058	27.7	0.99757557141698328	0.84772	0.96834	0.71191	D	AEFDBI	0.896888	0.83845	D	0.486643055603548	0.66308	4.93356	0.411007873915376	0.62250	4.43726	0.999999999999757	0.74766	0.722319	0.85440	0	0.658105	0.61773	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	3.31	3.31	0.37025	8.826000	0.91659	6.769000	0.56555	0.361000	0.20101	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	12.196	0.53608	683	0.59664	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1421.33	33	chr14	23955153	.	G	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=740;ExcessHet=0;FS=7.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-7.4;QD=13.28;ReadPosRankSum=-2.719;SOR=1.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1314:.	18	0	1	0
chr14	23990300	23990300	G	A	exonic	DHRS4;DHRS4L2	.	nonsynonymous SNV	DHRS4:NM_001282989:exon2:c.G247A:p.V83M,DHRS4L2:NM_198083:exon2:c.G247A:p.V83M,DHRS4L2:NM_001193635:exon4:c.G163A:p.V55M	.	407	1112	3	0	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0528192301587	.	.	0.0004	0	8.693e-05	0	0	1.517e-05	0	0.0031	3.84e-05	1	26028	rs749227142	0.0002	0.0003	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	2.99e-05	4.479e-05	0	7.56e-05	0	0	7.56e-05	0.0002	0.0019	7.899e-05	0.0001	6.435e-05	9.432e-05	0.0021	4.504e-05	3.518e-05	0.0011	0.0009	0	0	0	0	0	0	0	2.945e-05	0	0.0021	0.033	0.45039	D	0.04	0.50809	D	0.988	0.62325	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	0.999183	0.28917	N	.	.	.	-2.69	0.90451	D	-2.6	0.56301	D	0.554	0.57946	0.096	0.84101	D	0.699	0.89624	D	10	0.028217882	0.00957	T	0.052819	0.65221	D	0.449	0.75004	.	.	0.833830589278	0.83225	0.6631239900151187	0.66249	0.194413493711	0.21778	.	.	.	0.101827	0.90013	T	0.121258	0.66497	D	-0.063598	0.66080	T	0.151262298226357	0.17203	T	0.768523	0.39993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.64559	B	.;.;.;.;.;.	.;.;.;.;.;.	3.227313	0.43993	21.8	0.95378234895911362	0.26800	0.79511	0.39414	D	AEFDBI	0.450208	0.50470	N	-0.516520065533862	0.21546	1.144228	-0.692394095694174	0.17151	0.910646	0.999817407935251	0.43459	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	3.5	0.236	0.14733	5.562000	0.67049	7.553000	0.60314	-0.215000	0.08222	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.2084:0.0:0.6313:0.1603	5.221	0.14689	744	0.52588	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	297.33	34	chr14	23990300	.	G	A	297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.425;DP=898;ExcessHet=0;FS=15.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.12;MQRankSum=-8.65;QD=1.67;ReadPosRankSum=1.89;SOR=0.552	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr14	24074600	24074600	G	A	exonic	CPNE6	.	nonsynonymous SNV	CPNE6:NM_006032:exon6:c.G568A:p.V190I,CPNE6:NM_001280558:exon7:c.G733A:p.V245I,CPNE6:NM_001385056:exon7:c.G568A:p.V190I,CPNE6:NM_001385057:exon7:c.G568A:p.V190I,CPNE6:NM_001385058:exon7:c.G568A:p.V190I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0123000012844	.	0.000599042	0.0003	0	0	0	0	1.498e-05	0	0.0020	0.0002458	38	154602	rs555234339	0.0001	0.0001	6.398e-05	0.0002	0.0017	0.0001	9.567e-05	0.0014	0.0014	2.987e-05	2.236e-05	0	2.519e-05	0	0	1.529e-05	8.279e-05	0.0017	0.0001	0.0001	5.139e-05	0.0002	0.0037	7.571e-05	6.277e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.099	0.43708	T	0.218	0.92824	T	0.857	0.47240	P	0.732	0.55359	P	0.000122	0.49741	D	0.000000	0.997359	0.43821	D	0.155	0.08919	N	1.05	0.39990	T	-0.83	0.26200	N	0.515	0.55799	-0.8468	0.52188	T	0.181	0.52828	T	10	0.019200087	0.00426	T	0.012	0.30749	T	0.195	0.47612	0.382	0.39970	0.434263919452	0.43042	0.5268093397248927	0.52604	0.842555199672	0.68137	0.419303894043	0.27741	T	0.117566	0.43775	T	-0.372299	0.03480	T	-0.326572	0.41849	T	0.109365300690362	0.13357	T	.	.	.	0.28618452	0.51636	0.39106804	0.63886	0.28618452	0.51636	0.39106804	0.63886	-6.226	0.48453	T	.	.	0.159	0.39305	B	.;.;.;.;.	.;.;.;.;.	4.505062	0.70502	25.5	0.99445629712418848	0.65021	0.98911	0.88512	D	AEFDBI	0.942640	0.94747	D	0.541529857194436	0.69569	5.375438	0.596289909461382	0.74671	6.177244	0.999999999996923	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.19	5.19	0.71428	9.485000	0.96909	11.830000	0.97496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.203	0.81921	878	0.29785	.;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|Copine, C2B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2499.33	34	chr14	24074600	.	G	A	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=1442;ExcessHet=0;FS=8.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.49;ReadPosRankSum=-1.444;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1345:.	18	0	1	0
chr14	24131610	24131610	G	A	exonic	FITM1	.	nonsynonymous SNV	FITM1:NM_203402:exon1:c.G47A:p.R16Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	2764485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00962164624698	.	.	0.0001	0.0001	0	0	0.0002	0.0002	0	0.0001	0.0001035	16	154602	rs375038109	5.285e-05	5.541e-05	5.461e-05	5.107e-05	0.0002	4.291e-05	3.966e-05	8.926e-05	7.085e-05	5.984e-05	0	3.858e-05	2.524e-05	0	0	5.044e-05	6.653e-05	0.0002	5.913e-05	5.91e-05	8.991e-05	2.689e-05	0.0004	3.077e-05	2.21e-05	7.276e-05	3.024e-05	4.825e-05	0	0	0.0003	0	0	0	5.88e-05	0	0.0004	0.242	0.17584	T	0.0	0.92824	D	0.003	0.11197	B	0.0	0.01387	B	0.001675	0.38326	N	0.096556	0.982109	0.24989	N	0	0.06538	N	.	.	.	-0.39	0.13611	N	0.109	0.09490	-1.0929	0.05066	T	0.077	0.30889	T	9	0.046046138	0.03747	T	0.009622	0.25153	T	0.025	0.05312	0.417	0.45709	0.276482976112	0.27267	0.5621039364419387	0.56137	0.202067841752	0.22620	0.471014738083	0.34820	T	0.020591	0.16185	T	-0.4421	0.01257	T	-0.57663	0.14848	T	0.041149090975523	0.03900	T	.	.	.	0.047989946	0.08294	0.05789073	0.10604	0.047989946	0.08294	0.05789073	0.10603	-5.167	0.38604	T	.	.	0.121	0.25199	B	.	.	1.599646	0.20451	14.75	0.99147806242676895	0.53709	0.07343	0.13364	N	AEFDBIJ	0.143927	0.26676	N	-0.730928990776665	0.15156	0.7613778	-0.639405774845815	0.18485	0.9876611	0.999974192951391	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	2.55	0.29757	0.527000	0.22695	1.230000	0.25036	0.671000	0.69459	0.724000	0.28861	0.863000	0.27509	0.799000	0.37691	0.2268:0.0:0.7732:0.0	7.092	0.24470	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	981.33	34	chr14	24131610	.	G	A	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=714;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.865;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr14	24148865	24148865	C	T	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon5:c.C167T:p.P56L,RNF31:NM_017999:exon5:c.C620T:p.P207L	.	.	.	.	.	.	.	.	.	.	.	1347960	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.0124348860399	.	.	2.484e-05	0	8.639e-05	0	0	1.498e-05	0	6.061e-05	1.94e-05	3	154602	rs763692830	6.431e-05	6.43e-05	4.901e-05	7.976e-05	0.0005	5.362e-05	4.977e-05	0.0003	0.0003	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	4.227e-05	3.312e-05	0.0005	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.858	0.61127	P	0.018298	0.27517	N	0.326062	0.99997	0.53665	D	2.075	0.57047	M	0.94	0.44856	T	-8.06	0.98503	D	0.334	0.39254	-0.7584	0.57492	T	0.199	0.55414	T	10	0.21402872	0.37912	T	0.012435	0.30996	T	0.147	0.38986	0.385	0.40460	0.392130519673	0.38828	0.4421054143493573	0.44127	0.236288230987	0.26167	0.459971874952	0.33307	T	0.117456	0.51685	T	-0.278474	0.10829	T	-0.327267	0.41772	T	0.503190815448761	0.32746	D	.	.	.	0.08169172	0.18782	0.08350695	0.19142	0.08169172	0.18782	0.08350695	0.19142	-4.261	0.28457	T	.	.	0.114	0.22933	B	.;.;.;.;.;.	.;.;.;.;.;.	3.561105	0.50109	22.9	0.99622924798820311	0.75533	0.75595	0.37021	D	AEFBI	0.129097	0.24713	N	0.424677830763806	0.62782	4.499974	0.390858829017038	0.60999	4.294249	0.999999996262184	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.72	4.72	0.59248	2.019000	0.40620	3.342000	0.37715	0.599000	0.40250	0.592000	0.27682	0.103000	0.22699	0.808000	0.38083	0.0:1.0:0.0:0.0	13.046	0.58332	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1821.33	33	chr14	24148865	.	C	T	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.332;DP=790;ExcessHet=0;FS=6.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=2.24;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr14	24163425	24163425	G	T	exonic	IRF9	.	nonsynonymous SNV	IRF9:NM_001385400:exon4:c.G412T:p.V138L,IRF9:NM_001385401:exon4:c.G412T:p.V138L,IRF9:NM_001385402:exon4:c.G412T:p.V138L,IRF9:NM_006084:exon4:c.G412T:p.V138L	.	424	1094	4	0	0	4	0.00182482	.	.	.	1392388	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.148796699292	.	0.000199681	8.243e-05	0	0	0	0	0.0001	0	6.061e-05	7.12e-05	11	154602	rs571189247	5.131e-05	5.13e-05	4.356e-05	5.913e-05	0.0012	4.192e-05	3.823e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	4.497e-05	9.934e-05	0.0001	5.908e-05	5.905e-05	6.424e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.157	0.23997	T	0.564	0.29442	T	0.003	0.11197	B	0.001	0.04355	B	0.822252	0.09169	U	0.911313	1	0.08975	N	2.045	0.56016	M	-4.16	0.98866	D	0.01	0.16598	N	0.054	0.11912	0.388	0.88922	D	0.870	0.95691	D	10	0.045036793	0.03529	T	0.148797	0.83068	D	0.207	0.49555	0.192	0.10304	0.403974779092	0.40011	0.1312841051718139	0.13053	0.307253748537	0.33023	0.323190152645	0.13904	T	0.071364	0.34189	T	-0.173026	0.24777	T	-0.23127	0.51648	T	0.025363734088409	0.01320	T	.	.	.	0.035595957	0.04221	0.041412383	0.04701	0.035595957	0.04220	0.041412383	0.04701	-3.29	0.13608	T	.	.	0.090	0.28145	B	.;.;.;.;.	.;.;.;.;.	1.048992	0.14299	10.88	0.92152757790308171	0.21513	0.10358	0.15887	N	AEFBCI	0.137934	0.25907	N	-0.617558002785897	0.18416	0.9559805	-0.576622112485013	0.20104	1.081608	0.999994873070562	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.01	2.09	0.26154	-0.171000	0.09872	0.063000	0.14158	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.489000	0.28769	0.0875:0.1459:0.617:0.1495	4.937	0.13297	895	0.25842	Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2155.81	36	chr14	24163425	.	G	T	2155.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.36;SOR=0.721	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1399	18	1	0	0
chr14	24183282	24183282	C	G	exonic	IPO4	.	nonsynonymous SNV	IPO4:NM_024658:exon22:c.G2195C:p.C732S	.	.	.	.	.	.	.	.	.	.	.	3680329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0256189178018	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs544661588	5.269e-05	5.267e-05	2.315e-05	8.254e-05	0.0009	4.279e-05	3.954e-05	0.0007	0.0007	0	0	0	0	0	0	0	1.656e-05	0.0009	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.192	0.20988	T	0.415	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.000299	0.46274	N	0.230585	0.602849	0.30926	N	0.345	0.11182	N	-0.23	0.66652	T	0.26	0.04380	N	0.182	0.19728	-0.9957	0.31109	T	0.113	0.40261	T	10	0.032699227	0.01427	T	0.025619	0.48579	D	0.079	0.23065	0.603	0.73466	0.581597774705	0.57830	0.1666159249950142	0.16581	0.278320214035	0.30320	0.514469087124	0.40849	T	0.070839	0.34061	T	-0.399642	0.02328	T	-0.406026	0.32685	T	0.0192985473364007	0.00636	T	.	.	.	0.117223956	0.27637	0.09028405	0.21163	0.117223956	0.27637	0.09028405	0.21163	-2.964	0.09799	T	.	.	0.072	0.04159	B	.	.	2.108902	0.26836	17.26	0.78132726358327897	0.12169	0.71817	0.35178	D	AEFGBCI	0.200589	0.32731	N	-0.56316168098959	0.20072	1.055487	-0.405273546705969	0.24841	1.362643	0.999943341882787	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	0.218	0.14546	0.763000	0.26183	1.229000	0.25030	0.587000	0.30956	0.994000	0.38300	1.000000	0.68203	0.819000	0.38590	0.0:0.4687:0.3801:0.1513	7.686	0.27706	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1198.33	38	chr14	24183282	.	C	G	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.537;DP=798;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.227;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	18	0	1	0
chr14	24210768	24210768	C	T	exonic	CHMP4A	.	nonsynonymous SNV	CHMP4A:NM_014169:exon4:c.G360A:p.M120I	.	.	.	.	.	.	.	.	0.9084	0.506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	.	.	1.648e-05	0	0	0	0	0	0.0022	0	1.29e-05	2	154602	rs766509120	8.234e-06	9.577e-06	1.366e-06	1.516e-05	0.0001	4.39e-06	3.47e-06	8.003e-05	6.241e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.095	0.44905	T	0.182	0.29148	B	0.241	0.38645	B	0.000014	0.62929	D	0.000000	0.99168	0.41448	D	1.505	0.38159	L	-0.81	0.73949	T	-0.06	0.56945	N	0.501	0.53357	-0.4153	0.71541	T	0.341	0.70648	T	10	0.2197038	0.38647	T	0.013161	0.32344	T	0.302	0.62290	0.623	0.75803	0.452928561435	0.44915	.	.	0.0479613458695	0.05229	0.446270495653	0.31435	T	0.49301	0.81674	T	-0.177364	0.24128	T	-0.232869	0.51493	T	0.315174923777864	0.25625	T	.	.	.	0.28712896	0.51725	0.33679247	0.59477	0.28712896	0.51725	0.33679247	0.59476	-5.844	0.44956	T	.	.	0.456	0.64943	A	.;.;.;.;.	.;.;.;.;.	3.827839	0.55313	23.6	0.99459546038036106	0.65736	0.96372	0.68816	D	AEFBI	0.748940	0.69053	D	0.0673841681497322	0.44945	2.75953	0.159336699449558	0.47640	2.99111	0.999999618190166	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	4.17	0.48303	3.339000	0.51853	3.551000	0.39048	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1768:0.8232:0.0:0.0	12.277	0.54063	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	39	chr14	24210768	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.828;DP=963;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.506;SOR=0.855	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	24236051	24236051	A	G	exonic	GMPR2	.	nonsynonymous SNV	GMPR2:NM_001283022:exon4:c.A430G:p.I144V,GMPR2:NM_001283023:exon4:c.A292G:p.I98V,GMPR2:NM_016576:exon4:c.A430G:p.I144V,GMPR2:NM_001002000:exon5:c.A376G:p.I126V,GMPR2:NM_001002001:exon5:c.A376G:p.I126V,GMPR2:NM_001002002:exon5:c.A376G:p.I126V,GMPR2:NM_001351022:exon5:c.A376G:p.I126V,GMPR2:NM_001351023:exon5:c.A376G:p.I126V,GMPR2:NM_001283021:exon6:c.A268G:p.I90V,GMPR2:NM_001351024:exon6:c.A268G:p.I90V,GMPR2:NM_001351025:exon6:c.A268G:p.I90V,GMPR2:NM_001351026:exon6:c.A268G:p.I90V	.	429	1091	2	0	0	2	0.000915751	.	.	.	3678156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.298	0.00727185420928	.	0.000199681	6.625e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs201053509	2.943e-05	2.942e-05	2.043e-05	3.852e-05	0.0005	2.218e-05	1.971e-05	0.0003	0.0002	0	0	0	0	0	0.0005	1.8e-06	8.285e-05	0.0004	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.195	0.22486	T	0.166	0.37589	T	0.012	0.17786	B	0.03	0.21741	B	0.000002	0.62929	N	0.097108	1	0.81001	D	1.56	0.39490	L	-1.29	0.79475	T	-0.81	0.24026	N	0.448	0.48596	-0.4771	0.69472	T	0.385	0.74039	T	10	0.18162674	0.33404	T	0.007272	0.19280	T	0.298	0.61843	0.629	0.76478	0.833050719665	0.83146	0.607191763004463	0.60651	0.162207741549	0.18300	0.532127737999	0.43335	T	0.394997	0.75399	T	-0.244625	0.14764	T	-0.288839	0.45893	T	0.17336379193342	0.18806	T	.	.	.	0.21703075	0.44176	0.20580685	0.44767	0.21703075	0.44176	0.20580685	0.44766	-4.959	0.38830	T	.	.	0.133	0.36254	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.345702	0.46121	22.2	0.97341775597188407	0.33476	0.92549	0.55973	D	AEDBCI	0.837987	0.75556	D	0.00800146953383561	0.42218	2.539668	0.156220985378035	0.47471	2.976948	0.999999996390014	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.53	4.39	0.52211	7.158000	0.77057	6.189000	0.54741	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.924:0.0:0.076:0.0	10.606	0.44584	889	0.27310	IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|IMP dehydrogenase/GMP reductase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2625.33	33	chr14	24236051	.	A	G	2625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.855;DP=802;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.479;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr14	24268417	24268417	C	A	exonic	RABGGTA	.	nonsynonymous SNV	RABGGTA:NM_004581:exon10:c.G1010T:p.R337L,RABGGTA:NM_182836:exon11:c.G1010T:p.R337L	.	417	1104	1	0	0	1	0.000452694	.	.	.	3318866	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0122506537848	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200570806	7.527e-06	7.524e-06	5.447e-06	9.629e-06	2.319e-05	4.04e-06	2.95e-06	3.85e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	2.413e-05	8.14e-06	5.14e-06	.	.	2.413e-05	0.0022	0	0	0	0	0	1.47e-05	0	0	0.499	0.07772	T	0.781	0.04316	T	0.001	0.07471	B	0.005	0.11217	B	0.038549	0.24273	N	0.482934	1	0.18198	N	1.7	0.43825	L	0.75	0.50192	T	-0.94	0.25118	N	0.616	0.63204	-1.0009	0.29660	T	0.068	0.28013	T	10	0.3938558	0.55085	T	0.012251	0.30654	T	0.074	0.21613	0.648	0.78542	0.336400405673	0.33241	0.4516892143027176	0.45086	0.188190179507	0.21148	0.229841053486	0.01956	T	0.191272	0.54606	T	-0.181115	0.23569	T	-0.497935	0.22562	T	0.12055379897356	0.14484	T	.	.	.	0.051557302	0.09486	0.051470518	0.08289	0.051557302	0.09486	0.051470518	0.08289	-3.133	0.11679	T	.	.	0.152	0.33687	B	.;.	.;.	1.482991	0.19090	14.08	0.82827491468978487	0.14396	0.42623	0.26919	N	AEFBI	0.279379	0.39344	N	-1.33967211042599	0.03233	0.1440783	-1.32897847062529	0.04060	0.1907241	0.999791792777871	0.43153	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.54	-2.51	0.05996	0.518000	0.22554	-4.530000	0.02110	-0.942000	0.02081	0.097000	0.22731	0.000000	0.08366	0.452000	0.27939	0.1102:0.3929:0.0:0.4969	7.065	0.24324	871	0.31377	Rab geranylgeranyltransferase, alpha subunit, insert-domain|Rab geranylgeranyltransferase, alpha subunit, insert-domain;Rab geranylgeranyltransferase, alpha subunit, insert-domain|Rab geranylgeranyltransferase, alpha subunit, insert-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1048.33	38	chr14	24268417	.	C	A	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=765;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-1.419;SOR=0.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1371	18	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,33:129:42:.:.:0,42,2374:.	8	0	5	6
chr14	24300644	24300646	GAG	-	exonic	NOP9	.	nonframeshift deletion	NOP9:NM_001286367:exon2:c.484_486del:p.E169del,NOP9:NM_174913:exon2:c.484_486del:p.E169del	.	0	13	25	18	170	231	0.701149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1197548443	0.0017	0.0051	0.0014	0.0021	0.0134	0.0017	0.0016	0.0109	0.0100	0.0005	0.0008	0.0037	0.0020	0.0004	0.0134	0.0010	0.0024	0.0108	0.0012	0.0012	0.0012	0.0013	0.0084	0.0011	0.0010	0.0064	0.0056	0.0005	0	0.0005	0.0020	0.0027	0.0005	0.0034	0.0012	0.0024	0.0084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68267.3	123	chr14	24300643	.	AGAG	A	68267.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=2765;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=34.74;ReadPosRankSum=0.594;SOR=0.708	GT:AD:DP:GQ:PL	0/0:0,0:105:99:4774,4662,4619	18	0	1	0
chr14	24304242	24304242	C	T	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_174913:exon8:c.C1612T:p.R538C	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.00359425	0.0021	0	0	0.0002	0	0	0.0011	0.0155	0.0018887	292	154602	rs202142041	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0142	0.0139	0.0002	8.944e-05	0	0	0	0.0009	8.094e-06	0.0011	0.0148	0.0005	0.0005	0.0002	0.0009	0.0155	0.0004	0.0004	0.0127	0.0117	0.0001	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0155	0.053	0.38863	T	0.042	0.50226	D	0.987	0.61912	D	0.653	0.52567	P	0.009546	0.30309	N	0.337741	0.624892	0.81001	D	0.92	0.23413	L	2.54	0.13916	T	-3.26	0.65397	D	0.21	0.23380	-1.1982	0.00163	T	0.037	0.16073	T	10	0.00649336	0.00147	T	.	.	.	0.115	0.32236	0.474	0.55020	0.451786746415	0.44804	0.1558311668971433	0.15504	0.329297580921	0.35035	0.325351178646	0.14231	T	0.127524	0.45460	T	-0.494066	0.00617	T	-0.470144	0.25502	T	0.0713617134098558	0.08841	T	.	.	.	0.101099536	0.23879	0.07173227	0.15395	0.101099536	0.23879	0.07173227	0.15394	-6.068	0.46844	T	.	.	0.094	0.14339	B	.	.	3.002745	0.40130	21.1	0.99660126959496564	0.77883	0.16502	0.19418	N	AEFBI	0.150605	0.27492	N	0.192387047543388	0.50834	3.269667	0.173008202211526	0.48373	3.054119	0.999518004385486	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.39	0.52211	0.401000	0.20673	0.922000	0.22712	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.770000	0.36519	0.1641:0.5738:0.2621:0.0	8.190	0.30522	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1147.33	42	chr14	24304242	.	C	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.52;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1486	18	0	1	0
chr14	24306373	24306373	C	T	splicing	CIDEB	NM_014430:exon5:c.336+1G>A;NM_001318807:exon6:c.336+1G>A	.	.	.	423	1083	15	1	0	17	0.00778745	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0007	0	0.0010	0	0	0.0007	0.0011	0.0016	0.000705	109	154602	rs146737422	0.0005	0.0005	0.0004	0.0005	0.0088	0.0004	0.0004	0.0069	0.0062	0.0001	0.0011	3.826e-05	0	5.616e-05	0.0088	0.0003	0.0007	0.0016	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0001	0	0.0016	0	0	9.413e-05	0.0034	0.0006	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0242678	0.48243	T	0.167737	0.81274	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.239424	0.87955	29.4	0.99074824237317693	0.51810	0.95398	0.64564	D	AEFDGBCI	.	.	.	0.895515431003367	0.91537	10.93455	0.69412066821763	0.81933	7.644	0.99999999999964	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.343423	0.05949	0	0.322829	0.05601	0	0.971825	0.74108	5.03	5.03	0.67015	5.327000	0.65659	7.426000	0.58753	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.0:1.0:0.0:0.0	17.286	0.87029	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1501.33	35	chr14	24306373	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=750;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.267;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr14	24311643	24311643	C	G	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.C979G:p.L327V,LTB4R2:NM_019839:exon2:c.C979G:p.L327V	.	373	1138	11	0	0	11	0.00480979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	.	0.00159744	0.0017	0	0	0	0	0.0002	0.0022	0.0114	0.0014165	219	154602	rs377045409	0.0007	0.0007	0.0004	0.0009	0.0099	0.0006	0.0006	0.0094	0.0092	2.987e-05	2.237e-05	0.0007	0	0	0.0038	2.338e-05	0.0006	0.0099	0.0003	0.0003	6.422e-05	0.0006	0.0097	0.0003	0.0002	0.0075	0.0067	2.405e-05	0	0	0.0006	0	0	0	2.939e-05	0.0005	0.0097	0.524	0.10838	T	0.08	0.41913	T	0.999	0.77913	D	0.943	0.67921	D	0.452857	0.12486	U	0.674625	1	0.81001	D	0.975	0.24501	L	-0.28	0.67543	T	-0.35	0.12847	N	0.16	0.30800	-0.7116	0.59874	T	0.316	0.68549	T	10	0.0062233806	0.00140	T	.	.	.	0.201	0.48592	0.298	0.26362	0.810050617562	0.80826	0.19740698031152448	0.19657	1.45993325731	0.86323	0.529451489449	0.42957	T	0.026074	0.19371	T	-0.399913	0.02318	T	-0.337829	0.40590	T	0.0853302114552114	0.10655	T	.	.	.	0.23221739	0.46006	0.25339702	0.50986	0.23221739	0.46006	0.25339702	0.50986	-4.08	0.24994	T	.	.	0.130	0.27851	B	.;.;.	.;.;.	3.530725	0.49532	22.8	0.99718627187437547	0.81843	0.29255	0.23773	N	AEFDGBHCI	0.276103	0.39092	N	0.0922722852880377	0.46103	2.855923	0.068459493089178	0.42973	2.608838	0.999999999067042	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	4.81	4.81	0.61401	2.604000	0.45938	4.856000	0.45423	0.549000	0.26987	0.971000	0.34370	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.397	0.74525	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1772.33	38	chr14	24311643	.	C	G	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.359;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.482;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1296	18	0	1	0
chr14	24311709	24311709	A	T	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.A1045T:p.M349L,LTB4R2:NM_019839:exon2:c.A1045T:p.M349L	.	397	1114	11	0	0	11	0.00491291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0005	0.00259585	0.0013	0.0001	0.0006	0	0	0.0006	0.0036	0.0070	0.001119	173	154602	rs148153989	0.0006	0.0006	0.0004	0.0008	0.0063	0.0006	0.0006	0.0049	0.0048	0.0003	0.0009	0.0006	0	7.563e-05	0.0063	0.0003	0.0010	0.0053	0.0006	0.0006	0.0004	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	4.81e-05	0	0.0022	0.0006	0	0	0	0.0003	0.0014	0.0048	0.334	0.12961	T	0.306	0.19972	T	0.0	0.02946	B	0.0	0.01387	B	0.144554	0.02912	U	2.606680	0.965553	0.25933	N	-0.345	0.03330	N	-0.13	0.64818	T	-0.17	0.09627	N	0.081	0.06059	-1.0374	0.18109	T	0.112	0.40145	T	10	0.002115637	0.00030	T	.	.	.	0.065	0.18881	0.263	0.20788	0.437527004654	0.43370	0.21154309866948948	0.21070	0.495164995704	0.48060	0.252874314785	0.04076	T	0.02717	0.19957	T	-0.56627	0.00233	T	-0.583294	0.14251	T	0.00500401839391299	0.00054	T	.	.	.	0.09839908	0.23209	0.11954269	0.28853	0.09839908	0.23209	0.11954269	0.28852	.	.	.	.	.	0.080	0.07937	B	.;.;.	.;.;.	0.555658	0.09243	6.024	0.92591644055282629	0.22052	0.17823	0.20002	N	AEFDBCI	0.128547	0.24636	N	-1.04108723214452	0.07763	0.3617484	-1.02030606614267	0.09339	0.4640637	0.999998774083464	0.74766	0.646311	0.45356	0	0.516746	0.08562	0	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.49	-0.188	0.12612	-0.284000	0.08456	0.735000	0.21116	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.4166:0.3269:0.2565:0.0	4.439	0.10988	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.009511	0.002924	0.000000	0.025862	0.003049	0.007576	0.02632	1172.33	38	chr14	24311709	.	A	T	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.402;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1296	18	0	1	0
chr14	24316024	24316024	T	A	exonic	LTB4R	.	nonsynonymous SNV	LTB4R:NM_001143919:exon2:c.T373A:p.S125T,LTB4R:NM_181657:exon2:c.T373A:p.S125T	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	7.7e-05	0.00299521	0.0018	9.679e-05	0.0002	0.0001	0	0.0004	0.0011	0.0116	0.0015782	244	154602	rs201954109	0.0010	0.0010	0.0006	0.0013	0.0116	0.0009	0.0009	0.0110	0.0108	5.974e-05	2.236e-05	0.0018	5.038e-05	0	0.0047	0.0002	0.0011	0.0116	0.0005	0.0005	0.0003	0.0006	0.0108	0.0004	0.0004	0.0084	0.0076	9.62e-05	0	0	0.0012	0	0	0	0.0002	0	0.0108	0.076	0.45039	T	0.059	0.45961	T	0.994	0.66517	D	0.946	0.68276	D	0.000212	0.47681	U	0.143577	0.909813	0.36381	D	2.3	0.65703	M	1.15	0.38236	T	-1.62	0.38924	N	0.46	0.49692	-0.6572	0.62399	T	0.188	0.53812	T	10	0.00976494	0.00220	T	.	.	.	0.230	0.53062	.	.	0.556935879736	0.55353	0.5395075968324747	0.53875	1.90715169542	0.92877	0.506772637367	0.39771	T	0.176496	0.52646	T	-0.468555	0.00868	T	-0.436428	0.29207	T	0.0522897894589071	0.05898	T	.	.	.	0.09875279	0.23296	0.08704763	0.20207	0.09875279	0.23295	0.08704763	0.20207	-6.565	0.50785	T	.	.	0.289	0.54768	B	.;.;.;.	.;.;.;.	3.739998	0.53550	23.4	0.98895105417383489	0.48073	0.91097	0.52854	D	AEFDGBHCI	0.461446	0.51120	N	0.631581827711271	0.75182	6.260929	0.609253609252062	0.75613	6.341266	0.999999999967339	0.74766	0.740716	0.97744	0	0.694456	0.67091	0	0.0	0.00061	3	0.721622	0.92947	0	.	.	5.89	5.89	0.94758	1.251000	0.32465	7.847000	0.70787	0.665000	0.62972	0.566000	0.27473	1.000000	0.68203	0.545000	0.30055	0.0:0.0:0.1651:0.8348	10.319	0.42933	856	0.34373	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1730.33	38	chr14	24316024	.	T	A	1730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.798;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.384;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr14	24323446	24323448	GAA	-	exonic	ADCY4	.	nonframeshift deletion	ADCY4:NM_001198568:exon17:c.2053_2055del:p.F685del,ADCY4:NM_001198592:exon18:c.2053_2055del:p.F685del,ADCY4:NM_139247:exon18:c.2053_2055del:p.F685del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs750107602	4.425e-05	4.241e-05	4.367e-05	4.485e-05	0.0002	3.523e-05	3.198e-05	0.0001	9.36e-05	0	5.56e-05	0	0	0	0	4.075e-05	1.721e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2106.29	34	chr14	24323445	.	GGAA	G	2106.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.495;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1318	18	0	1	0
chr14	24325470	24325470	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon14:c.G1730A:p.R577Q,ADCY4:NM_001198592:exon15:c.G1730A:p.R577Q,ADCY4:NM_139247:exon15:c.G1730A:p.R577Q	.	.	.	.	.	.	.	.	.	.	.	2209602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.108458743374	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150810366	6.158e-06	6.156e-06	9.532e-06	2.751e-06	2.519e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.196e-06	0	0	1.317e-05	1.314e-05	2.574e-05	0	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.019	0.50132	D	0.068	0.44106	T	1.0	0.90584	D	0.997	0.86255	D	0.002874	0.35804	N	0.000000	0.999996	0.58761	D	2.66	0.77858	M	-1.18	0.78314	T	-2.83	0.59710	D	0.581	0.60241	0.035	0.82959	D	0.575	0.84667	D	10	0.69527954	0.72104	D	0.108459	0.78499	D	0.445	0.74727	0.376	0.38994	0.949049214399	0.94851	0.4899096463149414	0.48910	0.862312818367	0.69017	0.48653614521	0.36958	T	0.807043	0.95138	D	0.169988	0.71122	D	0.00639917	0.70750	D	0.976173937320709	0.71261	D	.	.	.	0.2743925	0.50505	0.20960648	0.45313	0.2743925	0.50505	0.20960648	0.45312	-6.973	0.53836	T	.	.	0.219	0.44885	B	.;.;.	.;.;.	5.153979	0.86338	28.9	0.99953012220164272	0.99957	0.98248	0.80913	D	AEFBI	0.726751	0.67531	D	0.592078507961483	0.72681	5.843916	0.551641829232195	0.71512	5.666029	0.999999998586428	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.590023	0.30420	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	3.633000	0.54036	7.579000	0.60911	0.599000	0.40250	0.860000	0.30612	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	15.792	0.78141	856	0.34373	Adenylate cyclase, conserved domain;Adenylate cyclase, conserved domain;Adenylate cyclase, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	943.33	41	chr14	24325470	.	C	T	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=704;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.366;SOR=1.053	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1168	18	0	1	0
chr14	24330198	24330198	C	A	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon7:c.G1028T:p.R343L,ADCY4:NM_001198592:exon8:c.G1028T:p.R343L,ADCY4:NM_139247:exon8:c.G1028T:p.R343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0310498392732	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137899348	3.42e-06	3.42e-06	4.084e-06	2.75e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.037	0.51737	D	0.008	0.14655	B	0.039	0.23607	B	0.000105	0.50451	D	0.000000	0.940766	0.81001	D	0.755	0.19153	N	-1.43	0.80730	T	-3.48	0.67941	D	0.769	0.76666	-0.6555	0.62473	T	0.287	0.65928	T	10	0.6437382	0.69205	D	0.03105	0.53222	D	0.347	0.66863	0.7	0.83684	0.896531243126	0.89550	0.6903030269312134	0.68970	0.413205879231	0.42037	0.734320282936	0.72138	T	0.678681	0.90541	D	-0.00218357	0.51353	T	-0.240913	0.50709	T	0.929565787315369	0.59371	D	.	.	.	0.32275525	0.54871	0.21722722	0.46380	0.32275525	0.54871	0.21722722	0.46379	-7.605	0.58346	D	.	.	0.253	0.48777	B	.;.;.	.;.;.	4.478161	0.69849	25.4	0.99779955931707009	0.86693	0.84102	0.43187	D	AEFBCI	0.802383	0.72783	D	-0.0531214631610897	0.39463	2.327579	0.152272406807918	0.47263	2.959134	0.999985656025856	0.51787	0.634777	0.41761	0	0.550933	0.16991	0	0.563428	0.18855	0	0.645665	0.59343	0	.	.	5.01	5.01	0.66477	4.769000	0.61997	7.712000	0.66855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1883:0.8117:0.0:0.0	10.832	0.45867	856	0.34373	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase;Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	36	chr14	24330198	.	C	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=842;ExcessHet=0;FS=4.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-2.329;SOR=1.09	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1337	18	0	1	0
chr14	24331867	24331867	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon4:c.G590A:p.R197H,ADCY4:NM_001198592:exon5:c.G590A:p.R197H,ADCY4:NM_139247:exon5:c.G590A:p.R197H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0436831764141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.397	0.15157	T	0.28	0.32073	B	0.017	0.18140	B	0.004634	0.33547	N	0.138596	0.999997	0.25966	N	1.395	0.35261	L	-1.14	0.77843	T	-0.9	0.24244	N	0.452	0.50146	-0.8643	0.50952	T	0.259	0.62988	T	10	0.18266925	0.33558	T	0.043683	0.61110	D	0.435	0.74022	0.566	0.68768	0.842858711571	0.84135	0.46808729392645326	0.46727	0.9077017835	0.70913	0.668135523796	0.62571	T	0.281845	0.65458	T	0.0211319	0.54533	T	-0.207422	0.53940	T	0.745564639568329	0.43040	D	.	.	.	0.061341196	0.12690	0.040618543	0.04433	0.061341196	0.12690	0.040618543	0.04432	-5.548	0.42315	T	.	.	0.099	0.17953	B	.;.;.	.;.;.	3.736048	0.53465	23.4	0.99895607252078966	0.96895	0.18339	0.20220	N	AEFDGBCI	0.150856	0.27523	N	-0.395742149507455	0.25620	1.392122	-0.329073401990156	0.27164	1.50543	0.999998742507121	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.616487	0.41570	0	0.711	0.71501	0	.	.	5.15	4.25	0.49658	0.751000	0.26013	4.087000	0.41779	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.981000	0.58702	0.0:0.9075:0.0:0.0925	10.687	0.45046	856	0.34373	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	188.33	33	chr14	24331867	.	C	T	188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.453;DP=593;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.741;SOR=1.27	GT:AD:DP:GQ:PL	0/0:25,0:25:69:0,69,1035	18	0	1	0
chr14	24370075	24370075	C	A	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon2:c.C677A:p.T226N,NFATC4:NM_001198966:exon2:c.C467A:p.T156N,NFATC4:NM_001288802:exon2:c.C641A:p.T214N,NFATC4:NM_001363681:exon2:c.C641A:p.T214N,NFATC4:NM_001363682:exon2:c.C641A:p.T214N,NFATC4:NM_004554:exon2:c.C677A:p.T226N,NFATC4:NM_001136022:exon3:c.C866A:p.T289N,NFATC4:NM_001198967:exon3:c.C866A:p.T289N,NFATC4:NM_001320043:exon3:c.C866A:p.T289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00596560662738	0.0002	0.00219649	0.0014	0.0006	8.854e-05	0	0	4.854e-05	0.0037	0.0088	0.001119	173	154602	rs140402036	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0.0008	8.951e-05	0	2.52e-05	0	0.0005	5.576e-05	0.0009	0.0086	0.0006	0.0006	0.0003	0.0009	0.0095	0.0005	0.0004	0.0073	0.0066	0.0009	0	6.535e-05	0	0	0	0	2.941e-05	0.0005	0.0095	0.115	0.28520	T	0.64	0.07999	T	0.867	0.51611	P	0.35	0.52567	B	0.018678	0.27430	N	0.257726	0.943631	0.28945	N	0.55	0.14455	N	2.38	0.15843	T	-0.37	0.13805	N	0.541	0.57263	-1.1045	0.03588	T	0.043	0.18701	T	10	0.007903308	0.00179	T	0.005966	0.15549	T	0.048	0.13305	.	.	0.267718591433	0.26370	0.16490008164295492	0.16410	0.912470087647	0.71115	0.753374993801	0.74944	T	0.091862	0.38883	T	-0.507512	0.00519	T	-0.494533	0.22916	T	0.108539541194959	0.13272	T	.	.	.	0.1331091	0.30971	0.1555446	0.36455	0.1331091	0.30971	0.1555446	0.36454	-4.419	0.32045	T	.	.	0.091	0.17530	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.073408	0.41320	21.3	0.98386419554146953	0.40915	0.83725	0.42824	D	AEFDBI	0.402073	0.47631	N	0.000391864647362128	0.41873	2.512505	0.0520032799368768	0.42170	2.545945	0.999998679141777	0.74766	0.0	0.00013	3	0.0	0.00010	3	0.688494	0.62686	0	0.727631	0.95156	0	.	.	3.89	3.89	0.44098	3.670000	0.54305	7.691000	0.65788	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	13.733	0.62281	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	1587.33	36	chr14	24370075	.	C	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.138;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.053;SOR=0.671	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	24376891	24376891	-	T	exonic	NFATC4	.	frameshift insertion	NFATC4:NM_001288802:exon9:c.2619dupT:p.G874Wfs*4,NFATC4:NM_001136022:exon10:c.2844dupT:p.G949Wfs*4	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0008	0	0	0	0	0.0001	0.0020	0.0079	0.0005304	82	154602	rs545800363	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0002	0.0041	0.0039	0	0	0	0	2.013e-05	0	2.504e-05	0.0004	0.0044	0.0002	0.0002	0.0002	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	6.542e-05	0	0	0	0	2.942e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1329.29	43	chr14	24376891	.	C	CT	1329.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=787;ExcessHet=0;FS=4.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=1.92;SOR=0.315	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr14	24440849	24440849	C	T	exonic	SDR39U1	.	nonsynonymous SNV	SDR39U1:NM_001290292:exon4:c.G160A:p.V54I,SDR39U1:NM_001290293:exon4:c.G82A:p.V28I,SDR39U1:NM_001308075:exon4:c.G160A:p.V54I,SDR39U1:NM_020195:exon5:c.G406A:p.V136I	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.207122279023	0.0020	0.00159744	0.0022	0.0002	0.0020	0.0001	0.0006	0.0033	0.0011	0.0012	0.0021669	335	154602	rs145788637	0.0022	0.0022	0.0021	0.0023	0.0087	0.0021	0.0021	0.0068	0.0061	0.0005	0.0017	0.0012	2.519e-05	0.0006	0.0087	0.0024	0.0025	0.0013	0.0019	0.0019	0.0019	0.0018	0.0029	0.0017	0.0016	0.0025	0.0023	0.0006	0	0.0029	0.0006	0	0.0011	0.0034	0.0028	0.0024	0.0006	0.027	0.52492	D	0.026	0.56192	D	0.997	0.90584	D	0.805	0.66185	P	0.000002	0.62929	D	0.058506	1	0.81001	D	.	.	.	-3.18	0.93111	D	-0.44	0.14588	N	0.416	0.45615	0.737	0.93629	D	0.817	0.93826	D	10	0.009403825	0.00212	T	0.207122	0.87076	D	0.249	0.55752	.	.	0.410734915765	0.40690	0.5117001049876125	0.51092	0.296933290066	0.32082	0.500692129135	0.38925	T	0.044031	0.28183	T	-0.117435	0.33543	T	0.0561152	0.73987	D	0.0470243884598374	0.04969	T	0.916808	0.78426	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40246	B	.;.;.;.	.;.;.;.	4.619124	0.73326	26.0	0.99872630228971726	0.94989	0.93568	0.58573	D	AEFDBHCI	0.645438	0.62133	D	0.669163444638782	0.77613	6.70868	0.678643797607919	0.80760	7.371155	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.74	5.74	0.90070	5.642000	0.67561	2.199000	0.31271	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.990000	0.65344	0.0:1.0:0.0:0.0	17.412	0.87380	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.002717	0.000000	0.000000	0.008621	0.015244	0.003788	0.02632	1335.33	44	chr14	24440849	.	C	T	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.275;DP=871;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.459;SOR=0.622	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	0
chr14	24505547	24505547	G	T	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001308083:exon4:c.C380A:p.P127H,CMA1:NM_001836:exon5:c.C713A:p.P238H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0332792020968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.04	0.50809	D	1.0	0.90584	D	0.958	0.70027	D	0.047912	0.23300	N	0.373259	0.996424	0.23019	N	2.36	0.67893	M	0.2	0.60111	T	-6.82	0.92980	D	0.236	0.44761	-0.8247	0.53638	T	0.287	0.65851	T	10	0.53136736	0.63202	D	0.033279	0.54868	D	0.208	0.49714	0.557	0.67547	0.801786107145	0.79993	0.6498083361194431	0.64916	0.00857817795208	0.00777	0.335130661726	0.15707	T	0.565832	0.85543	D	-0.0438932	0.45369	T	-0.300826	0.44637	T	0.974939405918121	0.70717	D	0.413359	0.21771	T	0.54944307	0.69924	0.45188504	0.68112	0.54944307	0.69925	0.45188504	0.68112	-6.203	0.49369	T	.	.	0.195	0.41678	B	.;.	.;.	3.560401	0.50099	22.9	0.97843157630328004	0.36345	0.42163	0.26817	N	AEFBI	0.070419	0.13979	N	0.155691270785604	0.49082	3.112592	0.0152415696650243	0.40422	2.412073	2.27432592707631E-4	0.06048	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	2.53	0.29594	1.036000	0.29837	2.138000	0.30825	0.676000	0.76740	0.904000	0.31524	0.989000	0.31174	0.170000	0.20979	0.0854:0.0:0.5907:0.3239	6.327	0.20457	759	0.50631	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	763.33	36	chr14	24505547	.	G	T	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=716;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.23;SOR=0.538	GT:AD:DP:GQ:PL	0/1:52,35:87:99:777,0,1304	18	0	1	0
chr14	24507429	24507429	C	G	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001836:exon2:c.G136C:p.G46R	.	424	1064	32	2	0	36	0.0166359	.	.	.	725649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0772632775056	0.0043	0.00279553	0.0045	0.0010	0.0041	0	0.0085	0.0058	0.0077	0.0023	0.0043078	666	154602	rs5246	0.0041	0.0041	0.0040	0.0042	0.0160	0.0040	0.0040	0.0133	0.0123	0.0009	0.0031	0.0085	0	0.0106	0.0160	0.0040	0.0040	0.0032	0.0038	0.0039	0.0037	0.0040	0.0052	0.0036	0.0035	0.0048	0.0046	0.0009	0.0022	0.0024	0.0078	0	0.0087	0.0204	0.0052	0.0081	0.0023	0.022	0.48642	D	0.124	0.35455	T	0.96	0.55278	D	0.54	0.48825	P	0.727327	0.06349	N	1.155740	1	0.08975	N	1.62	0.41497	L	0.22	0.59851	T	-4.26	0.76174	D	0.279	0.31590	-0.9096	0.46904	T	0.121	0.42187	T	10	0.0063990355	0.00145	T	0.077263	0.72728	D	0.152	0.39956	.	.	0.747323469624	0.74504	0.6557552196420782	0.65511	0.0036760046655	0.00316	0.349411666393	0.17835	T	0.490062	0.81502	T	-0.461918	0.00956	T	-0.434509	0.29423	T	0.0694968769853934	0.08580	T	0.465653	0.13651	T	0.44510096	0.63730	0.2611371	0.51887	0.44510096	0.63730	0.2611371	0.51886	-6.875	0.53114	T	.	.	0.269	0.50306	B	.	.	1.191773	0.15830	12.13	0.94053190833927425	0.24183	0.04018	0.09450	N	AEFBI	0.056840	0.10539	N	-0.545693039121945	0.20618	1.088279	-0.739930919868381	0.15970	0.8425658	0.00271298208751002	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	-1.23	0.08977	0.250000	0.18007	-0.238000	0.10617	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4815:0.0:0.5185	8.535	0.32521	754	0.51307	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.015152	0.009511	0.017544	0.000000	0.008621	0.009146	0.011364	0.05263	2762.83	33	chr14	24507429	.	C	G	2762.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.837;DP=910;ExcessHet=0.119;FS=3.182;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.688;SOR=0.533	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr14	28767623	28767623	C	T	exonic	FOXG1	.	nonsynonymous SNV	FOXG1:NM_005249:exon1:c.C344T:p.A115V	Rett syndrome, congenital variant, Isolated cases	.	.	.	.	.	.	.	.	.	.	202811	Rett_syndrome,_congenital_variant|not_specified|FOXG1_disorder|FOXG1-related_disorder	MedGen:C3150705,OMIM:613454,Orphanet:3095|MedGen:CN169374|MONDO:MONDO:0100040,MedGen:CN297063|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.041	0.160934442859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796052454	1.857e-05	2.121e-05	1.414e-05	2.325e-05	0.0004	1.236e-05	1.033e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	1.321e-05	1.313e-05	0	2.705e-05	0.0004	2.2e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	0.041	0.41915	D	0.283	0.21478	T	0.004	0.12183	B	0.001	0.04355	B	0.097393	0.20029	U	0.241555	0.939086	0.26845	N	0.55	0.14455	N	0.88	0.46028	T	-0.52	0.16187	N	0.065	0.03726	-1.0530	0.13574	T	0.058	0.24502	T	10	0.05424416	0.05744	T	0.160934	0.84083	D	0.041	0.10877	0.339	0.32979	0.0401082797425	0.02173	0.1406874770316359	0.13991	.	.	0.928398609161	0.98894	D	0.290246	0.66302	T	-0.515447	0.00467	T	-0.619599	0.11216	T	0.0547764047570673	0.06319	T	0.452755	0.12846	T	0.05079285	0.09231	0.10856886	0.26155	0.05079285	0.09231	0.10856886	0.26155	-4.851	0.35179	T	.	.	0.100	0.16929	B	.	.	2.211460	0.28211	17.72	0.99559199111618513	0.71645	0.07583	0.13594	N	AEFDBCIJ	0.044850	0.07267	N	-0.728413929240244	0.15226	0.7654949	-0.660170508457343	0.17960	0.9573494	0.999995644365395	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.85	1.81	0.24139	-0.675000	0.05327	0.727000	0.21057	0.410000	0.20643	0.000000	0.06391	0.030000	0.21233	0.982000	0.59238	0.0:0.7496:0.2504:0.0	8.160	0.30354	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	146.33	38	chr14	28767623	.	C	T	146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=540;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.228;SOR=1.371	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,965	18	0	1	0
chr14	31122952	31122952	C	G	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon27:c.G5077C:p.D1693H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0316980073351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.934e-05	0.0001	2.063e-05	1.803e-05	3.49e-05	1.341e-05	1.154e-05	1.393e-05	1.163e-05	3.011e-05	0	0	0	0	0	2.092e-05	1.669e-05	3.49e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.58626	D	0.002	0.79402	D	.	.	.	.	.	.	0.000418	0.44736	U	0.139995	1	0.81001	D	.	.	.	0.98	0.51714	T	-4.18	0.79316	D	0.744	0.81063	-0.8830	0.49521	T	0.196	0.55056	T	10	0.5129209	0.62201	D	0.031698	0.53716	D	0.393	0.70844	0.231	0.15855	0.626327245455	0.62328	0.3888103266673907	0.38796	1.60696827796	0.88818	0.917501449585	0.98127	D	0.125463	0.45119	T	0.113686	0.65732	D	-0.0744746	0.65305	T	0.993387579917908	0.84163	D	0.939306	0.77145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86720	P	.;.;.;.	.;.;.;.	5.354639	0.89813	31	0.99573649763884109	0.72561	0.99034	0.90260	D	AEFDGBI	0.895527	0.83563	D	0.343005611180877	0.58371	4.008926	0.466956206363015	0.65813	4.87146	1.0	0.98316	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.886000	0.85793	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.263	0.93965	592	0.68746	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	90.79	98	chr14	31122952	.	C	G	90.79	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.329;DP=1494;ExcessHet=0;FS=397.841;InbreedingCoeff=-0.21;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.08;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0:72:0:.:.:0,0,1451:.	7	0	1	11
chr14	31302433	31302433	A	G	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon33:c.T5326C:p.S1776P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0307700860325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.07401	T	0.334	0.18340	T	.	.	.	.	.	.	0.045816	0.23500	N	0.449329	0.998237	0.22276	N	.	.	.	-0.03	0.63077	T	-0.46	0.14978	N	0.133	0.12913	-1.0593	0.11931	T	0.085	0.33099	T	8	0.081183314	0.13261	T	0.03077	0.53006	D	0.031	0.07369	0.284	0.24121	0.137902524267	0.13322	0.5179160194395227	0.51714	.	.	0.472862482071	0.35074	T	0.003807	0.03212	T	-0.205835	0.19969	T	-0.533444	0.18944	T	0.120539486408234	0.14483	T	0.633837	0.24812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01834	B	.	.	1.432664	0.18510	13.78	0.9474016847652017	0.25429	0.44033	0.27229	N	AEFBI	0.080441	0.16263	N	-0.322265552766998	0.28305	1.560063	-0.268591112312871	0.29140	1.630182	0.979472625926264	0.30032	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.89	3.73	0.41982	1.047000	0.29976	3.914000	0.40428	0.665000	0.62972	0.544000	0.27298	0.996000	0.32793	0.952000	0.50033	0.5993:0.0:0.2265:0.1741	3.151	0.06099	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	33	chr14	31302433	.	A	G	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.658;DP=676;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.856;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1167	18	0	1	0
chr14	31304997	31304997	G	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon32:c.C5147G:p.T1716R	.	430	1085	6	1	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00589916954411	0.0047	0.00159744	0.0033	0.0013	0.0003	0	0.0100	0.0044	0.0011	0.0013	0.0032923	509	154602	rs188148087	0.0040	0.0040	0.0041	0.0039	0.0043	0.0040	0.0039	0.0042	0.0041	0.0005	0.0008	0.0059	0.0004	0.0108	0.0021	0.0043	0.0030	0.0016	0.0036	0.0036	0.0035	0.0037	0.0047	0.0034	0.0033	0.0043	0.0041	0.0010	0	0.0015	0.0061	0.0006	0.0114	0.0034	0.0047	0.0052	0.0015	0.701	0.04162	T	0.462	0.12526	T	.	.	.	.	.	.	0.885017	0.07260	N	1.054610	1	0.08975	N	.	.	.	1.03	0.40469	T	-1.65	0.39503	N	0.156	0.16168	-1.0536	0.13413	T	0.081	0.32031	T	10	0.0037204325	0.00069	T	0.005899	0.15371	T	0.085	0.24743	.	.	0.0138822411134	0.00435	0.1952025957408449	0.19437	.	.	0.243470609188	0.03112	T	0.023612	0.17990	T	-0.481033	0.00729	T	-0.460021	0.26596	T	0.0013493436489622	0.00013	T	0.156684	0.01385	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	1.124931	0.15109	11.60	0.66830198590513867	0.08174	0.17858	0.20017	N	AEFBI	0.128036	0.24565	N	-1.25496649400324	0.04234	0.1907119	-1.11217842244633	0.07467	0.363303	0.994318427334707	0.33582	0.706548	0.73137	0	0.588066	0.40923	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	2.12	0.26372	1.219000	0.32083	5.119000	0.47573	-0.800000	0.03169	0.097000	0.22731	0.993000	0.31925	0.913000	0.44837	0.0624:0.3571:0.5805:0.0	14.072	0.64392	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1910.33	33	chr14	31304997	.	G	C	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=777;ExcessHet=0;FS=3.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.562;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr14	31337527	31337527	A	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon22:c.T3316G:p.S1106A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0120642023429	.	.	0.0001	0	0.0018	0	0	0	0	0.0002	1.94e-05	3	154602	rs778363643	1.133e-05	1.094e-05	6.996e-06	1.576e-05	0.0002	6.71e-06	5.43e-06	0.0001	9.294e-05	0	0	0	0	0	0	0	1.705e-05	0.0002	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.088	0.32296	T	0.121	0.35840	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999573	0.50061	D	.	.	.	3.1	0.08283	T	-0.42	0.14193	N	0.536	0.56403	-1.1360	0.01515	T	0.072	0.29130	T	10	0.11871934	0.22450	T	0.012064	0.30290	T	0.145	0.38592	.	.	0.128392430309	0.12331	0.1793666635149359	0.17855	.	.	0.602593064308	0.53271	T	0.026611	0.19659	T	-0.286281	0.10012	T	-0.384571	0.35186	T	0.43517142534256	0.30251	T	0.773923	0.40554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.	.	4.352608	0.66871	25.0	0.99496927174605332	0.67801	0.98903	0.88402	D	AEFDBI	0.841794	0.75896	D	0.627738734274312	0.74937	6.218	0.642850663762288	0.78079	6.804702	0.999999997683112	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	8.333000	0.89937	8.116000	0.76608	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.238	0.73136	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	35	chr14	31337527	.	A	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=731;ExcessHet=0;FS=2.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=2.41;SOR=1.029	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr14	31388867	31388867	T	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon7:c.A911G:p.D304G	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0582623433711	0.0007	0.000798722	0.0007	0	0.0009	0	0.0005	0.0010	0	0.0005	0.0006468	100	154602	rs191067821	0.0005	0.0005	0.0005	0.0006	0.0125	0.0005	0.0005	0.0102	0.0093	0.0001	0.0009	0.0075	0	0.0001	0.0125	0.0003	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0004	0.0003	7.221e-05	0	0.0007	0.0095	0	0	0.0034	0.0005	0.0019	0.0006	0.003	0.68238	D	0.009	0.66756	D	.	.	.	.	.	.	0.000037	0.55875	D	0.158036	0.999999	0.81001	D	.	.	.	3.18	0.07478	T	-4.13	0.75139	D	0.645	0.65673	-0.3083	0.74753	T	0.348	0.71241	T	10	0.010729134	0.00238	T	0.058262	0.67257	D	0.358	0.67872	.	.	0.146414634003	0.14194	0.5306783669414971	0.52991	.	.	0.668260812759	0.62590	T	0.21943	0.58244	T	-0.217696	0.18309	T	-0.144674	0.59711	T	0.092789273463035	0.11545	T	0.89781	0.64256	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	4.907205	0.80710	27.4	0.99799972095627087	0.88461	0.95259	0.64030	D	AEFDGBCIJ	0.900088	0.84522	D	0.699577363522754	0.79603	7.112982	0.714730928328987	0.83495	8.037151	0.999999999999977	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.667000	0.82852	7.907000	0.73837	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.031	0.80381	452	0.79239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2537.33	42	chr14	31388867	.	T	C	2537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.278;DP=1318;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.216;SOR=0.569	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr14	31398782	31398782	C	G	splicing	HEATR5A	NM_015473:exon4:c.339-1G>C	.	.	.	450	1071	1	0	0	1	0.000466636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0052	0	0	0	0	0.0001	1.29e-05	2	154602	rs771745425	1.199e-05	1.095e-05	7.428e-06	1.665e-05	0.0002	7.1e-06	5.75e-06	0.0001	8.671e-05	0	0	0	0	0	0.0002	0	1.777e-05	0.0002	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.040692	0.45847	T	-0.0479187	0.67165	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.878470	0.93920	33	0.99523357403488599	0.69407	0.99821	0.99681	D	AEFBHI	.	.	.	0.485722656892933	0.66257	4.926709	0.587173106707337	0.74020	6.066516	0.999999999999994	0.74766	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.109871	0.03346	0	0.986153	0.94148	5.83	5.83	0.93059	7.712000	0.83637	5.858000	0.50403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.119	0.97954	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	37	chr14	31398782	.	C	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=836;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.605;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1331	18	0	1	0
chr14	31787859	31787859	A	C	exonic	NUBPL	.	nonsynonymous SNV	NUBPL:NM_001201574:exon2:c.A44C:p.N15T,NUBPL:NM_001201573:exon5:c.A305C:p.N102T,NUBPL:NM_025152:exon7:c.A593C:p.N198T	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	3	1510	8	1	0	10	0.00330033	.	.	.	211676	NUBPL-related_disorder|Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_I_deficiency,_nuclear_type_1|Mitochondrial_complex_1_deficiency,_nuclear_type_21|Inborn_genetic_diseases	.|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.234	0.0124520252723	0.0046	0.00219649	0.0044	0.0009	0.0022	0	0.0058	0.0061	0.0034	0.0032	0.0042302	654	154602	rs11558436	0.0052	0.0053	0.0053	0.0052	0.0060	0.0051	0.0051	0.0058	0.0058	0.0009	0.0020	7.667e-05	0	0.0070	0.0012	0.0060	0.0047	0.0029	0.0047	0.0047	0.0047	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0008	0.0482	0.0037	0	0.0002	0.0065	0	0.0071	0.0038	0.0027	0.214	0.19361	T	0.36	0.16964	T	0.888	0.48822	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	0.255	0.09829	N	1.04	0.40218	T	-2.21	0.49684	N	0.691	0.69649	-1.0774	0.07861	T	0.055	0.23375	T	10	0.011787027	0.00256	T	0.012452	0.31033	T	0.234	0.53644	.	.	0.528308644755	0.52478	0.7253635573754865	0.72480	0.368958913548	0.38434	0.753454089165	0.74956	T	0.024173	0.18318	T	-0.399877	0.02319	T	-0.340208	0.40321	T	0.00733469050729113	0.00084	T	0.973753	0.90539	D	0.5106175	0.67715	0.43614912	0.67077	0.5382757	0.69301	0.44352263	0.67566	-10.374	0.76120	D	0.16135742591531044	0.19748	0.251	0.48582	B	.	.	3.936342	0.57567	23.9	0.99428094011755064	0.64130	0.97132	0.72877	D	AEFBCI	0.827309	0.74662	D	0.286839046287627	0.55479	3.712118	0.42413823289704	0.63073	4.533965	0.999650943887264	0.41424	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.62	5.62	0.85714	6.227000	0.72232	7.000000	0.57193	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.781	0.62569	442	0.79946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	739.33	38	chr14	31787859	.	A	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.177;DP=692;ExcessHet=0;FS=2.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.45;SOR=1.044	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr14	32094181	32094181	C	T	exonic	ARHGAP5	.	nonsynonymous SNV	ARHGAP5:NM_001030055:exon2:c.C3512T:p.T1171I,ARHGAP5:NM_001173:exon2:c.C3512T:p.T1171I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00364054238708	.	.	8.278e-06	0	0	0	0	0	0	6.065e-05	6.5e-06	1	154602	rs773927154	7.532e-06	7.524e-06	9.538e-06	5.506e-06	0.0002	4.04e-06	2.95e-06	3.86e-06	1.68e-06	0	0	0	0	0	0.0002	6.297e-06	1.658e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.093	0.42261	T	0.0	0.02946	B	0.001	0.04355	B	0.117238	0.19161	N	0.600559	0.948318	0.81001	D	1.7	0.43825	L	3.09	0.08460	T	-1.13	0.31170	N	0.301	0.37717	-0.9120	0.46607	T	0.016	0.06425	T	10	0.17265579	0.32050	T	0.003641	0.08371	T	0.065	0.18881	0.274	0.22528	0.158540857583	0.15491	0.19502438478385523	0.19420	0.279066347748	0.30389	0.827787995338	0.86224	D	0.147639	0.48582	T	0.0120072	0.53300	T	-0.220529	0.52687	T	0.519798696041107	0.33358	D	0.878412	0.59357	D	0.09228322	0.21646	0.09717512	0.23119	0.09228322	0.21645	0.09717512	0.23118	-4.582	0.32879	T	.	.	0.226	0.45738	B	.;.;.	.;.;.	3.501291	0.48989	22.7	0.98430504263827523	0.41386	0.93397	0.58108	D	AEFGBI	0.569039	0.57398	D	-0.121486709344061	0.36458	2.107613	0.126739632428173	0.45920	2.846858	0.999999999817296	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	5.793000	0.68709	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.519	0.95170	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	47	chr14	32094181	.	C	T	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=718;ExcessHet=0;FS=9.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0.919;QD=12.39;ReadPosRankSum=0.611;SOR=1.218	GT:AD:DP:GQ:PL	0/1:32,25:57:99:720,0,831	18	0	1	0
chr14	32154655	32154655	G	A	exonic	ARHGAP5	.	nonsynonymous SNV	ARHGAP5:NM_001030055:exon7:c.G4216A:p.A1406T,ARHGAP5:NM_001173:exon7:c.G4213A:p.A1405T	.	435	1056	29	2	0	33	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0153694515659	0.0063	0.00199681	0.0059	0.0013	0.0041	0	0.0003	0.0089	0.0077	0.0030	0.0055109	852	154602	rs112370244	0.0061	0.0061	0.0060	0.0062	0.0435	0.0060	0.0060	0.0391	0.0374	0.0017	0.0058	0.0395	2.522e-05	0.0004	0.0435	0.0059	0.0074	0.0030	0.0058	0.0058	0.0053	0.0063	0.0118	0.0055	0.0053	0.0104	0.0099	0.0011	0.0022	0.0118	0.0401	0	0.0007	0.0102	0.0070	0.0081	0.0021	0.005	0.65419	D	0.086	0.66756	T	0.941	0.54283	P	0.659	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.18	0.29980	L	2.07	0.20387	T	-0.55	0.48184	N	0.641	0.65330	-1.1515	0.00981	T	0.065	0.26878	T	10	0.008331001	0.00189	T	0.015369	0.36062	T	0.174	0.44019	.	.	0.289831133145	0.28582	0.45581065080999983	0.45499	0.706561179263	0.61451	0.759489893913	0.75853	T	0.100563	0.40647	T	-0.327909	0.06271	T	-0.235834	0.51204	T	0.043290907243771	0.04291	T	0.739226	0.35772	T	0.3890804	0.59966	0.2727357	0.53187	0.3890804	0.59967	0.2727357	0.53186	-6.424	0.53440	T	.	.	0.415	0.60389	A	.;.;.;.;.;.	.;.;.;.;.;.	4.171003	0.62719	24.5	0.99916689200265718	0.98449	0.97396	0.74483	D	AEFGBI	0.617148	0.60344	D	0.497245363721527	0.66928	5.014178	0.529147022595794	0.69960	5.435483	0.999999983845578	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	5.072000	0.64217	11.853000	0.98135	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.575	0.91108	732	0.54084	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.030303	0.023098	0.052632	0.050000	0.043103	0.003049	0.000000	0.02632	3058.33	37	chr14	32154655	.	G	A	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=887;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.273;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	18	0	1	0
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K	.	424	1065	32	1	0	34	0.0157116	.	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.035354	0.016304	0.005848	0.000000	0.017241	0.021472	0.003788	0.02632	1592.33	35	chr14	32600736	.	G	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=726;ExcessHet=0;FS=5.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.687;SOR=0.33	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr14	34762008	34762008	A	G	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_182648:exon23:c.T3896C:p.I1299T,BAZ1A:NM_013448:exon24:c.T3992C:p.I1331T	.	426	1094	2	0	0	2	0.000913242	.	.	.	3417506	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0176485815016	.	.	0.0001	0	8.637e-05	0	0	1.498e-05	0.0033	0.0005	9.06e-05	14	154602	rs764791271	5.267e-05	5.267e-05	3.403e-05	7.15e-05	0.0006	4.277e-05	3.952e-05	0.0005	0.0005	0	2.236e-05	0	0	0	0.0002	1.709e-05	1.656e-05	0.0006	3.285e-05	3.283e-05	1.284e-05	5.379e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.104	0.31088	T	0.443	0.13215	T	0.066	0.23586	B	0.036	0.22909	B	0.372015	0.13513	N	0.746964	0.968871	0.25781	N	1.5	0.37844	L	0.59	0.53943	T	-0.37	0.13226	N	0.076	0.11483	-1.0436	0.16236	T	0.088	0.34105	T	10	0.039155096	0.02384	T	0.017649	0.39432	T	0.056	0.15993	0.214	0.13354	0.312529679308	0.30857	0.3055768310387439	0.30470	0.826773948138	0.67443	0.534296870232	0.43639	T	0.017523	0.14282	T	-0.410107	0.01985	T	-0.466073	0.25940	T	0.0365639965504052	0.03079	T	0.876112	0.58827	D	0.06265436	0.13108	0.0550101	0.09568	0.06265436	0.13108	0.0550101	0.09568	-1.51	0.01785	T	.	.	0.119	0.24464	B	.;.;.	.;.;.	2.193939	0.27977	17.64	0.91118133720819949	0.20371	0.92087	0.54916	D	AEFBI	0.207336	0.33352	N	-0.400415006566563	0.25455	1.381905	-0.179946681551699	0.32274	1.834573	0.952320085042726	0.28009	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.87	0.62877	2.886000	0.48276	2.120000	0.30714	0.750000	0.87069	0.969000	0.34210	0.725000	0.26378	0.987000	0.62547	0.8754:0.0:0.0:0.1246	12.577	0.55719	960	0.08626	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1906.33	37	chr14	34762008	.	A	G	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.466;DP=802;ExcessHet=0;FS=1.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.047;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	18	0	1	0
chr14	34801177	34801177	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_013448:exon8:c.A878G:p.N293S,BAZ1A:NM_182648:exon8:c.A878G:p.N293S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0108301134929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.09155	T	0.868	0.03589	T	0.0	0.02946	B	0.001	0.04355	B	0.469896	0.04919	N	1.279500	0.954269	0.26375	N	0.315	0.10303	N	0.49	0.55775	T	-0.99	0.26200	N	0.029	0.00666	-1.0371	0.18202	T	0.075	0.30210	T	10	0.03860995	0.02292	T	0.01083	0.27810	T	0.047	0.12962	0.197	0.10975	0.248133497653	0.24425	0.14549512418622482	0.14472	0.21363709283	0.23881	0.308223843575	0.11638	T	0.017936	0.14543	T	-0.347857	0.04863	T	-0.737449	0.03998	T	0.0429265267772065	0.04223	T	0.667233	0.27634	T	0.017248742	0.00257	0.021575375	0.00204	0.017248742	0.00257	0.021575375	0.00204	-2.753	0.07759	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-0.056329	0.03909	0.861	0.92407764220679312	0.21821	0.06221	0.12208	N	AEDBI	0.034249	0.04210	N	-0.991106270078904	0.08792	0.4136405	-0.911145590001133	0.11831	0.6051257	0.00652843808996885	0.11241	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.13	0.00961	0.13401	-0.910000	0.04163	-1.145000	0.06197	0.609000	0.47794	0.004000	0.16614	0.002000	0.18203	0.726000	0.34967	0.0:0.2632:0.2918:0.445	4.781	0.12574	951	0.11083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	626.33	33	chr14	34801177	.	T	C	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=670;ExcessHet=0;FS=4.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.727;SOR=1.372	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1308	18	0	1	0
chr14	35308030	35308030	C	T	exonic	PSMA6	.	nonsynonymous SNV	PSMA6:NM_001282234:exon2:c.C56T:p.T19I,PSMA6:NM_002791:exon2:c.C113T:p.T38I	.	.	.	.	.	.	.	.	.	.	.	3471863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.0390196213994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.83351	D	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	1.14	0.38397	T	-5.59	0.88224	D	0.936	0.94668	0.055	0.83342	D	0.380	0.73722	T	10	0.9174087	0.91100	D	0.03902	0.58564	D	0.734	0.90721	0.776	0.90157	0.822550958182	0.82087	0.9844123319833955	0.98434	3.52078213034	0.99770	0.839901328087	0.88079	D	0.094501	0.67549	T	0.321137	0.84553	D	0.223515	0.84352	D	0.997586250305176	0.91913	D	0.972203	0.90064	D	0.7592188	0.81407	0.6303677	0.78439	0.7592188	0.81408	0.6303677	0.78439	-9.586	0.78066	D	.	.	0.976	0.91860	P	.;.;.;.;.	.;.;.;.;.	5.299584	0.88975	29.8	0.99888927126763349	0.96359	0.98719	0.85981	D	AEFBI	0.952546	0.96810	D	1.05568671361181	0.97222	15.77585	0.965534761015794	0.97841	16.87474	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.902000	0.86082	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.625	0.95670	476	0.77720	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	856.33	76	chr14	35308030	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.8;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.507;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	18	0	1	0
chr14	35677991	35677991	T	C	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001330075:exon21:c.A4442G:p.E1481G,RALGAPA1:NM_001346243:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001346246:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001346248:exon21:c.A4442G:p.E1481G,RALGAPA1:NM_014990:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_194301:exon21:c.A3065G:p.E1022G,RALGAPA1:NM_001283043:exon22:c.A3104G:p.E1035G,RALGAPA1:NM_001283044:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346245:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346247:exon22:c.A3206G:p.E1069G,RALGAPA1:NM_001346249:exon22:c.A4583G:p.E1528G	.	430	1091	1	0	0	1	0.000458085	.	.	.	702864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0009	0.00319489	0.0049	0.0019	0.0475	0.0008	0	0.0002	0.0033	0.0001	0.0046054	712	154602	rs148266372	0.0015	0.0015	0.0017	0.0013	0.0438	0.0014	0.0014	0.0422	0.0415	0.0010	0.0438	0	0.0008	0	0	7.645e-05	0.0012	6.965e-05	0.0037	0.0038	0.0030	0.0046	0.0315	0.0035	0.0034	0.0291	0.0282	0.0014	0	0.0315	0	0.0019	0	0	0.0002	0.0019	0.0004	0.023	0.48186	D	0.261	0.23298	T	0.062	0.31978	B	0.03	0.34536	B	0.000015	0.62929	D	0.116848	0.999774	0.48980	D	0.55	0.14455	N	-0.47	0.70133	T	-1.85	0.44094	N	0.294	0.41261	-0.8640	0.50973	T	0.117	0.41231	T	10	0.003970742	0.00077	T	.	.	.	0.124	0.34239	.	.	0.168254554758	0.16434	0.2718298507167534	0.27095	1.32223500528	0.83470	0.586012840271	0.50932	T	0.023934	0.21334	T	-0.338542	0.05490	T	-0.224031	0.52348	T	0.0152032870638134	0.00333	T	0.953705	0.82322	D	0.18409967	0.39709	0.19058302	0.42469	0.18409967	0.39709	0.19058302	0.42468	-8.188	0.64634	D	0.5160537097627915	0.58905	0.136	0.46949	B	.;.;.;.;.	.;.;.;.;.	4.176118	0.62829	24.5	0.99786777242371549	0.87308	0.98087	0.79488	D	AEFGBI	0.886102	0.81719	D	0.0535426480001212	0.44307	2.707042	0.235209863220506	0.51811	3.360591	0.999999999843554	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	5.38	5.38	0.77279	7.628000	0.82379	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.373	0.74294	571	0.70397	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	802.33	33	chr14	35677991	.	T	C	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.032;DP=709;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1;SOR=0.837	GT:AD:DP:GQ:PL	0/1:47,37:84:99:816,0,1174	18	0	1	0
chr14	35826609	35826609	G	C	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon1:c.G93C:p.E31D	.	416	1091	14	1	0	16	0.00727934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00976535292076	0.0005	.	0.0012	0	0.0016	0.0001	0	0.0010	0.0063	0.0036	0.0009056	140	154602	rs140117219	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0006	0.0033	0.0028	5.977e-05	0.0011	3.85e-05	2.523e-05	1.879e-05	0.0047	0.0004	0.0008	0.0030	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	4.809e-05	0	0.0008	0	0.0002	0	0	0.0007	0.0009	0.0025	0.596	0.05703	T	0.634	0.07105	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.049557	0.999646	0.81001	D	0.61	0.15665	N	.	.	.	-0.08	0.08187	N	0.099	0.08088	-1.0884	0.05804	T	0.072	0.29291	T	9	0.005649805	0.00125	T	0.009765	0.25472	T	0.102	0.29158	0.177	0.08379	0.363356657567	0.35953	0.05232356874264919	0.05174	0.56158804593	0.52659	0.777621269226	0.78569	T	0.00913	0.08331	T	-0.49808	0.00586	T	-0.491598	0.23223	T	0.0387728366072484	0.03469	T	0.829117	0.49388	T	0.15359467	0.34808	0.16723788	0.38593	0.15359467	0.34807	0.16723788	0.38592	-4.304	0.28232	T	.	.	0.063	0.01534	B	.	.	2.302037	0.29454	18.13	0.87328218550284153	0.17149	0.82679	0.41874	D	ALL	0.307559	0.41440	N	-0.447783479273129	0.23815	1.281601	-0.244502811683357	0.29962	1.682906	0.999999999999989	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	4.25	0.49658	0.818000	0.26952	2.704000	0.34183	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2097:0.0:0.7903:0.0	8.535	0.32518	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.002717	0.000000	0.000000	0.000000	0.006173	0.003788	0.05263	1704.81	35	chr14	35826609	.	G	C	1704.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.95;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	18	1	0	0
chr14	35870416	35870416	G	C	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911C:p.S304T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00221248419424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.313e-05	6.57e-05	1.238e-05	1.388e-05	1.451e-05	8.4e-06	6.77e-06	8.59e-06	6.95e-06	0	0	3.886e-05	0	1.89e-05	0	1.451e-05	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.07594	T	0.398	0.15109	T	0.004	0.12183	B	0.004	0.10090	B	0.000000	0.84330	D	0.111584	0.999994	0.58761	D	1.715	0.44382	L	.	.	.	-0.49	0.15578	N	0.145	0.14622	-0.9386	0.42837	T	0.178	0.52318	T	9	0.1481382	0.28058	T	0.002212	0.04178	T	0.166	0.42578	0.175	0.08135	0.307966526162	0.30417	0.5061039972548269	0.50532	0.566790619123	0.52959	0.7530849576	0.74902	T	0.012464	0.10952	T	0.020254	0.54415	T	-0.208683	0.53821	T	0.805031061172485	0.46699	D	0.820118	0.47860	T	0.18230602	0.39443	0.20176247	0.44172	0.18230602	0.39442	0.20176247	0.44171	-3.018	0.10376	T	.	.	0.077	0.06433	B	.	.	3.178248	0.43127	21.7	0.83697020226144336	0.14869	0.95612	0.65420	D	AEFGI	0.748629	0.69032	D	0.0557396435389112	0.44408	2.71533	0.285975852205076	0.54718	3.636153	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	138.23	34	chr14	35870416	.	G	C	138.23	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.816;DP=1899;ExcessHet=0.119;FS=216.881;InbreedingCoeff=-0.1362;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.202;SOR=10.525	GT:AD:DP:GQ:PL	0/0:89,21:110:66:0,66,1831	12	0	2	5
chr14	36517708	36517708	A	T	exonic	NKX2-1	.	nonsynonymous SNV	NKX2-1:NM_003317:exon2:c.T686A:p.L229Q,NKX2-1:NM_001079668:exon3:c.T776A:p.L259Q	Chorea, hereditary benign, Autosomal dominant;Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3755010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.421438550448	.	.	0.0005	0	0	0	0	0	0	0.0018	0.0001229	19	154602	rs539786671	7.62e-05	7.662e-05	2.338e-05	0.0001	0.0013	6.463e-05	6.014e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	6.711e-05	0.0013	1.972e-05	1.97e-05	0	4.037e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.08	0.33585	T	0.322	0.19016	T	0.015	0.21998	B	0.007	0.19653	B	0.043117	0.23772	N	0.349316	0.984122	0.40103	D	-1.28	0.00734	N	-2.78	0.91134	D	0.26	0.04380	N	0.261	0.32812	-0.5196	0.67929	T	0.365	0.72590	T	10	0.03259194	0.01414	T	0.421439	0.93801	D	0.242	0.54781	0.279	0.23323	0.764771714973	0.76262	0.4255937099202649	0.42476	.	.	0.862810432911	0.91525	D	0.100246	0.40585	T	-0.272944	0.11430	T	-0.19492	0.55126	T	0.132536084148685	0.15614	T	0.849215	0.59357	T	0.3127061	0.54019	0.2794735	0.53916	0.3127061	0.54019	0.2794735	0.53915	-3.772	0.20387	T	0.053520498687400456	0.01087	0.106	0.19839	B	.;.;.;.	.;.;.;.	2.966849	0.39528	21.0	0.92016533159320812	0.21353	0.97480	0.75020	D	AEFDBCI	0.818408	0.73967	D	-0.49565732226145	0.22223	1.185079	-0.282520890854634	0.28674	1.600561	0.999990557716542	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.97	3.97	0.45241	7.200000	0.77358	9.026000	0.78582	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	1.0:0.0:0.0:0.0	12.840	0.57182	874	0.30607	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1167.33	33	chr14	36517708	.	A	T	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.971;DP=768;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.22;SOR=0.572	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr14	37591894	37591894	G	A	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.C890T:p.P297L	.	235	1282	4	1	0	6	0.00233463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.803262806103	.	0.000399361	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs577631417	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	3.515e-05	4.722e-05	0.0002	0	0	0.0016	0.0002	0.0004	0.0013	0.0001	0.0001	8.992e-05	0.0001	0.0021	7.572e-05	6.278e-05	0.0011	0.0009	2.405e-05	0	0.0002	0	0	0	0	5.882e-05	0	0.0021	0.311	0.13971	T	0.336	0.18232	T	0.002	0.09854	B	0.005	0.11217	B	0.006258	0.32164	N	0.290150	0.998372	0.44834	D	1.04	0.26193	L	-3.15	0.92938	D	-2.2	0.49519	N	0.065	0.03726	-0.1300	0.79401	T	0.563	0.84096	D	10	0.03696215	0.02022	T	0.803263	0.98462	D	0.217	0.51112	0.224	0.14813	0.79297248663	0.79104	0.42471586155736685	0.42388	.	.	0.797935724258	0.81649	T	0.550301	0.84761	D	-0.39596	0.02461	T	-0.354776	0.38658	T	0.0161845025318414	0.00393	T	0.713629	0.32527	T	0.089708164	0.20969	0.111017354	0.26774	0.089708164	0.20969	0.111017354	0.26774	-3.372	0.14682	T	.	.	0.083	0.09045	B	.	.	3.208806	0.43669	21.8	0.97608042410479678	0.34887	0.86030	0.45237	D	AEFDBHCI	0.406952	0.47923	N	-0.302987328385038	0.29035	1.606557	-0.124845755282731	0.34391	1.977748	0.999999999087286	0.74766	0.582742	0.33608	0	0.573888	0.26702	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.06	4.06	0.46572	0.757000	0.26098	9.859000	0.82043	0.565000	0.28586	0.961000	0.33663	1.000000	0.68203	0.883000	0.42306	0.1053:0.0:0.8947:0.0	9.053	0.35551	648	0.63242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003731	0.000000	0.001462	0.003012	0.000000	0.000000	0.012987	0.000000	0.02632	1146.33	79	chr14	37591894	.	G	A	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=769;ExcessHet=0;FS=2.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.654;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	18	0	1	0
chr14	38209435	38209435	C	A	exonic	SSTR1	.	nonsynonymous SNV	SSTR1:NM_001049:exon3:c.C46A:p.P16T	.	394	1127	0	1	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0033	0.00279553	0.0020	0.0197	0.0023	0	0	0.0002	0	0.0002	0.0010737	166	154602	rs199534342	0.0004	0.0004	0.0004	0.0003	0.0117	0.0004	0.0004	0.0107	0.0103	0.0117	0.0012	0.0019	0	0	0.0006	2.498e-05	0.0009	8.053e-05	0.0036	0.0036	0.0038	0.0035	0.0121	0.0034	0.0033	0.0112	0.0109	0.0121	0	0.0020	0.0012	0	0	0	0.0001	0.0033	0	0.602	0.05601	T	0.554	0.09298	T	0.003	0.11197	B	0.002	0.06944	B	0.459121	0.12413	N	0.665940	0.672519	0.30351	N	0	0.06538	N	-0.45	0.69896	T	0.19	0.04947	N	0.173	0.18512	-0.9727	0.36627	T	0.086	0.33326	T	10	0.004221767	0.00084	T	.	.	.	0.059	0.16972	.	.	0.317526407968	0.31361	0.46935758922948667	0.46854	0.83572146944	0.67812	0.717450857162	0.69675	T	0.154705	0.49610	T	-0.456595	0.01032	T	-0.417612	0.31350	T	0.00925920437008236	0.00118	T	0.516848	0.16688	T	0.06851677	0.14934	0.061143484	0.11758	0.06851677	0.14934	0.061143484	0.11758	-6.518	0.50425	T	.	.	0.071	0.03698	B	.	.	3.109297	0.41930	21.4	0.94154256499164013	0.24354	0.65527	0.32767	D	AEFDBCI	0.131396	0.25032	N	-0.416627342420752	0.24886	1.346949	-0.213312674092008	0.31057	1.754133	0.999999808694057	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.17	3.18	0.35615	1.121000	0.30897	3.213000	0.36811	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2318:0.6723:0.0:0.096	6.091	0.19219	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004044	0.010309	0.004087	0.002924	0.000000	0.000000	0.003086	0.003788	0.02632	548.33	34	chr14	38209435	.	C	A	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=635;ExcessHet=0;FS=4.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.374;SOR=0.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,960	18	0	1	0
chr14	38210559	38210582	GCTCTGAGCCCGGGCCACGCAGGG	-	exonic	SSTR1	.	nonframeshift deletion	SSTR1:NM_001049:exon3:c.1170_1193del:p.T390T	.	430	913	143	27	9	206	0.0973801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0033	0.0236	0.0026	0.0063	0	0.0006	0	0.0018	0.00146	38	26028	rs571084167	0.0014	0.0014	0.0014	0.0013	0.0207	0.0013	0.0013	0.0194	0.0188	0.0207	0.0021	0.0002	0.0072	0.0001	0.0017	0.0005	0.0024	0.0021	0.0072	0.0072	0.0073	0.0071	0.0228	0.0068	0.0067	0.0216	0.0211	0.0228	0	0.0030	0	0.0069	9.808e-05	0.0069	0.0005	0.0070	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1243.51	26	chr14	38210558	.	CGCTCTGAGCCCGGGCCACGCAGGG	C	1243.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.024;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	38255062	38255062	T	G	exonic	CLEC14A	.	nonsynonymous SNV	CLEC14A:NM_175060:exon1:c.A961C:p.I321L	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00219649	0.0013	0	0.0008	0	0.0005	0.0005	0.0033	0.0067	0.0011902	184	154602	rs61978105	0.0008	0.0008	0.0006	0.0010	0.0069	0.0007	0.0007	0.0064	0.0063	5.974e-05	0.0004	3.826e-05	2.519e-05	0.0003	0.0016	0.0004	0.0009	0.0069	0.0006	0.0006	0.0004	0.0007	0.0091	0.0005	0.0004	0.0070	0.0062	0.0002	0	0.0002	0	0	0	0	0.0005	0.0005	0.0091	0.911	0.02361	T	0.295	0.20680	T	0.0	0.02946	B	0.002	0.06944	B	0.988061	0.08049	N	0.991542	1	0.08975	N	0	0.06538	N	-0.74	0.73205	T	-0.2	0.10136	N	0.135	0.13198	-0.9810	0.34771	T	0.163	0.49947	T	10	0.0037222505	0.00069	T	.	.	.	0.048	0.13305	.	.	0.505273739051	0.50166	0.4426464782934207	0.44181	0.644264083522	0.57927	0.295977711678	0.09804	T	0.00455	0.03958	T	-0.576646	0.00202	T	-0.598199	0.12962	T	0.0109830861373963	0.00158	T	0.344566	0.07542	T	0.03638276	0.04465	0.02778151	0.00957	0.03638276	0.04465	0.02778151	0.00957	-2.553	0.06154	T	.	.	0.063	0.01491	B	.	.	0.770729	0.11407	8.018	0.59527053556242371	0.06245	0.00549	0.02518	N	AEFDGBCIJ	0.065160	0.12693	N	-1.2051695825246	0.04923	0.2232804	-1.17206182257454	0.06380	0.3069224	0.999999871510651	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.16	2.25	0.27340	1.332000	0.33410	0.604000	0.19959	-0.153000	0.12021	0.016000	0.19238	0.855000	0.27430	0.003000	0.05239	0.0:0.1988:0.5906:0.2106	6.524	0.21490	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.015152	0.02632	2577.33	38	chr14	38255062	.	T	G	2577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.028;DP=815;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.769;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	18	0	1	0
chr14	39294020	39294020	G	T	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001354140:exon6:c.G276T:p.R92S,MIA2:NM_001354147:exon6:c.G351T:p.R117S,MIA2:NM_001354149:exon6:c.G351T:p.R117S,MIA2:NM_001354153:exon6:c.G438T:p.R146S,MIA2:NM_001354156:exon6:c.G198T:p.R66S,MIA2:NM_001354157:exon6:c.G438T:p.R146S,MIA2:NM_001247988:exon7:c.G429T:p.R143S,MIA2:NM_001247989:exon7:c.G531T:p.R177S,MIA2:NM_001247990:exon7:c.G291T:p.R97S,MIA2:NM_001354137:exon7:c.G429T:p.R143S,MIA2:NM_001354138:exon7:c.G429T:p.R143S,MIA2:NM_001354139:exon7:c.G429T:p.R143S,MIA2:NM_001354141:exon7:c.G276T:p.R92S,MIA2:NM_001354142:exon7:c.G276T:p.R92S,MIA2:NM_001354143:exon7:c.G276T:p.R92S,MIA2:NM_001354144:exon7:c.G276T:p.R92S,MIA2:NM_001354145:exon7:c.G276T:p.R92S,MIA2:NM_001354146:exon7:c.G480T:p.R160S,MIA2:NM_001354148:exon7:c.G429T:p.R143S,MIA2:NM_001354150:exon7:c.G498T:p.R166S,MIA2:NM_001354154:exon7:c.G516T:p.R172S,MIA2:NM_001354155:exon7:c.G516T:p.R172S,MIA2:NM_005930:exon7:c.G516T:p.R172S,MIA2:NM_203354:exon7:c.G480T:p.R160S,MIA2:NM_203355:exon7:c.G516T:p.R172S,MIA2:NM_203356:exon7:c.G429T:p.R143S,MIA2:NM_001354151:exon8:c.G543T:p.R181S,MIA2:NM_001354152:exon8:c.G543T:p.R181S,MIA2:NM_001329214:exon12:c.G2340T:p.R780S	.	554	962	5	1	0	7	0.00362506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0408521117156	0.0002	0.000199681	0.0008	0	0	0.0001	0.0012	0.0009	0	0.0021	0.0007438	115	154602	rs141828907	0.0008	0.0008	0.0007	0.0008	0.0028	0.0007	0.0007	0.0021	0.0020	6.006e-05	0.0002	0.0009	2.537e-05	0.0018	0.0028	0.0006	0.0011	0.0024	0.0005	0.0006	0.0007	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0002	0.0014	0	0.0010	0	0.0008	0	0.0010	0.86	0.09075	T	0.136	0.37173	T	.	.	.	.	.	.	0.217396	0.16219	N	0.451973	0.882401	0.28026	N	.	.	.	1.54	0.82533	T	-2.17	0.50012	N	0.186	0.24634	-0.8255	0.53588	T	0.299	0.67045	T	9	0.008297265	0.00188	T	0.040852	0.59608	D	0.018	0.03083	0.281	0.23642	0.563581552253	0.56021	0.04630270722287728	0.04574	0.0114451723269	0.01075	0.354276537895	0.18549	T	0.053472	0.29454	T	-0.34649	0.04951	T	-0.276962	0.47115	T	0.00461966723313212	0.00049	T	0.563744	0.21881	T	0.108352624	0.25619	0.10689241	0.25724	0.108352624	0.25619	0.10689241	0.25724	-6.48	0.63304	T	.	.	0.276	0.52945	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.657755	0.34622	19.68	0.91794765369610054	0.21100	0.58998	0.30794	D	AEFBI	0.162275	0.28843	N	-0.704586010814977	0.15892	0.8049759	-0.584658358569598	0.19892	1.069347	0.379280548916065	0.19945	0.615465	0.37627	0	0.601575	0.49859	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.15	2.27	0.27501	0.518000	0.22554	1.226000	0.25010	-0.244000	0.07312	0.970000	0.34288	0.694000	0.26193	0.920000	0.45560	0.2566:0.1565:0.5869:0.0	4.877	0.13020	816	0.41767	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1081.33	33	chr14	39294020	.	G	T	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=686;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.632;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr14	39432136	39432136	C	A	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon1:c.G27T:p.Q9H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0014	0.00299521	0.0074	0.0404	0	0	0	0	0	0	0.0002652	41	154602	rs201896398	0.0002	0.0001	0.0002	0.0002	0.0068	0.0001	0.0001	0.0060	0.0056	0.0068	0.0001	0	0	0	0.0004	3.241e-06	0.0003	4.759e-05	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0003	0	0	0	0	1.472e-05	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.000957	0.40932	D	0.000000	0.967372	0.25851	N	0	0.06538	N	1.31	0.35405	T	-0.22	0.10480	N	0.176	0.18920	-1.0701	0.09391	T	0.036	0.15465	T	9	0.0033266544	0.00057	T	.	.	.	0.080	0.23350	0.169	0.07419	0.043077524339	0.03247	0.30635438495764566	0.30548	1.37926964747	0.84740	0.832785308361	0.86990	D	0.007934	0.07302	T	-0.47082	0.00840	T	-0.443949	0.28366	T	0.232988119130867	0.22093	T	0.506949	0.16072	T	0.20364408	0.42449	0.15316026	0.36003	0.20364408	0.42449	0.15316026	0.36002	-3.726	0.19703	T	.	.	0.206	0.43172	B	.	.	2.814743	0.37065	20.4	0.98561708796124103	0.42986	0.56965	0.30253	D	ALL	.	.	.	-0.6425347401657	0.17678	0.9117109	-0.524701947018052	0.21483	1.162392	0.999999999826477	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.08	-0.37	0.11906	0.343000	0.19686	0.309000	0.17063	0.547000	0.25779	1.000000	0.71638	0.988000	0.31051	0.958000	0.51230	0.3343:0.4627:0.0:0.203	3.572	0.07472	547	0.72440	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	33	chr14	39432136	.	C	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.981;DP=790;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.846;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	18	0	1	0
chr14	44505984	44505984	G	A	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C1004T:p.P335L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0250738286415	.	.	8.265e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs746197620	4.104e-06	4.104e-06	1.361e-06	6.875e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	3.311e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.06713	T	0.253	0.23501	T	0.184	0.29209	B	0.078	0.28627	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	0.75	0.50192	T	-1.78	0.42001	N	0.084	0.06059	-1.0248	0.22148	T	0.058	0.24317	T	9	0.05768037	0.06664	T	0.025074	0.48061	D	0.008	0.00669	0.315	0.29096	0.107399877778	0.10242	0.10186655906163951	0.10117	0.0753709897467	0.08448	0.311406731606	0.12120	T	0.003465	0.02869	T	-0.358402	0.04220	T	-0.655742	0.08556	T	0.081849959202242	0.10223	T	0.49515	0.15352	T	0.025676522	0.01533	0.034713566	0.02588	0.025676522	0.01533	0.034713566	0.02587	-6.682	0.51675	T	.	.	0.108	0.20508	B	.	.	1.915075	0.24320	16.35	0.69671526540086548	0.09047	0.07568	0.13580	N	AEFCI	0.045308	0.07395	N	-0.979408257546128	0.09044	0.4264354	-0.996637408366035	0.09860	0.4930753	1.90071970854781E-5	0.02871	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.73	0.491	0.16076	-0.282000	0.08478	-3.200000	0.02976	0.605000	0.46263	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2626:0.1451:0.5922:0.0	5.661	0.16945	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	73	chr14	44505984	.	G	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.886;DP=1470;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.518;SOR=0.591	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr14	44900712	44900712	C	T	exonic	C14orf28	.	nonsynonymous SNV	C14orf28:NM_001017923:exon2:c.C277T:p.L93F	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0203635828002	.	.	0.0005	0	8.687e-05	0	0	0	0	0.0033	0.0003622	56	154602	rs778844801	0.0002	0.0002	9.257e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0005	4.497e-06	0.0001	0.0030	4.597e-05	4.594e-05	0	9.401e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.35	0.34648	T	-3.67	0.70191	D	0.73	0.75283	-0.9004	0.47952	T	0.145	0.46895	T	10	0.05659944	0.06369	T	0.020364	0.42939	T	0.327	0.64926	0.264	0.20946	0.667032285117	0.66422	0.543342678449127	0.54260	0.301763760742	0.32512	.	.	.	0.128395	0.45601	T	-0.221362	0.17809	T	-0.0944252	0.63826	T	0.110968357339255	0.13523	T	0.922308	0.71764	D	0.7480163	0.80753	0.65343654	0.79715	0.7480163	0.80754	0.65343654	0.79716	-4.57	0.31792	T	.	.	0.469	0.66493	A	.;.	.;.	4.684612	0.75006	26.3	0.99812204626353473	0.89620	0.95682	0.65709	D	AEFBI	0.716391	0.66824	D	0.689623627872182	0.78953	6.976388	0.746144706364291	0.85870	8.710968	0.999999997955279	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.86	5.86	0.93936	6.484000	0.73529	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.052	0.89278	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	1676.33	34	chr14	44900712	.	C	T	1676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=775;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.53;SOR=0.629	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr14	45226775	45226775	G	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon10:c.C1808A:p.T603K	.	877	636	8	1	0	10	0.00780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	7.8e-05	0.00399361	0.0057	0	0	0	0	0.0013	0.0039	0.0164	0.0014295	221	154602	rs144591732	0.0012	0.0013	0.0007	0.0017	0.0156	0.0012	0.0011	0.0148	0.0145	3.758e-05	0.0003	0.0020	0	0	0.0034	0.0003	0.0015	0.0156	0.0010	0.0010	0.0006	0.0015	0.0168	0.0009	0.0008	0.0138	0.0128	7.223e-05	0	0.0004	0.0032	0	0	0.0103	0.0007	0.0014	0.0168	0.021	0.49117	D	0.051	0.47828	T	0.998	0.73220	D	0.863	0.61398	P	0.979405	0.07830	N	1.011430	0.514574	0.31619	N	1.78	0.46185	L	2.02	0.21119	T	-1.35	0.33598	N	0.131	0.12627	-0.9885	0.32978	T	0.083	0.32671	T	10	0.0066874623	0.00152	T	.	.	.	0.058	0.16647	.	.	0.344017737713	0.34012	0.17169480644439244	0.17089	0.0285527149791	0.02937	0.577752172947	0.49770	T	0.002494	0.01884	T	-0.494596	0.00613	T	-0.470906	0.25418	T	0.0670183516689708	0.08227	T	0.412859	0.10744	T	0.07779437	0.17678	0.10648939	0.25619	0.07779437	0.17678	0.10648939	0.25619	-2.134	0.03732	T	.	.	0.1	0.17146	B	.	.	2.316029	0.29649	18.19	0.9555788179128617	0.27231	0.69889	0.34367	D	AEFBI	0.100684	0.20239	N	0.261643419797473	0.54217	3.587877	0.193644771548225	0.49497	3.152246	0.00906498830387248	0.11790	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	3.91	2.94	0.33188	1.593000	0.36297	1.219000	0.24962	0.590000	0.31872	0.987000	0.36337	0.910000	0.28117	0.990000	0.65344	0.2161:0.0:0.7839:0.0	5.273	0.14948	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007128	0.005155	0.005464	0.005882	0.000000	0.008772	0.015625	0.000000	0.02632	922.33	33	chr14	45226775	.	G	T	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=693;ExcessHet=0;FS=3.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.508;SOR=1.159	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1224	18	0	1	0
chr14	45227734	45227734	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon9:c.A1675G:p.T559A	.	436	1064	22	0	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00368051569428	0.0003	0.000998403	0.0010	9.615e-05	0.0007	0	0	0.0007	0.0022	0.0041	0.0008732	135	154602	rs78638207	0.0007	0.0007	0.0006	0.0009	0.0092	0.0007	0.0007	0.0072	0.0065	0.0001	0.0006	0.0004	2.52e-05	7.488e-05	0.0092	0.0005	0.0012	0.0046	0.0006	0.0006	0.0006	0.0006	0.0037	0.0005	0.0005	0.0024	0.0020	0.0001	0	0.0010	0.0003	0	0	0.0034	0.0007	0.0009	0.0037	0.273	0.15876	T	0.485	0.11725	T	0.0	0.02946	B	0.0	0.01387	B	0.161117	0.03039	N	1.892250	1	0.08975	N	0	0.06538	N	2.27	0.17431	T	-0.1	0.08495	N	0.1	0.08227	-1.0136	0.25784	T	0.020	0.08407	T	10	0.0050391555	0.00109	T	0.003681	0.08496	T	0.001	0.00016	.	.	0.0297737177859	0.01360	0.11054547811145025	0.10983	0.0243229922235	0.02469	0.287212371826	0.08518	T	0.002522	0.01914	T	-0.71849	0.00028	T	-0.804571	0.01791	T	0.00755214021442597	0.00087	T	0.339366	0.07307	T	0.020072557	0.00553	0.021951139	0.00231	0.020072557	0.00553	0.021951139	0.00231	-3.735	0.19835	T	.	.	0.063	0.01491	B	.	.	-0.242874	0.02879	0.410	0.64820941754289496	0.07600	0.00859	0.03418	N	AEFDBIJ	0.019693	0.00707	N	-1.51389561729169	0.01758	0.07698201	-1.52155058778416	0.02179	0.09981657	0.710008609009829	0.22807	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	-3.17	0.04882	-0.059000	0.11688	0.079000	0.14366	-0.952000	0.02027	0.007000	0.17678	0.000000	0.08366	0.785000	0.37106	0.0912:0.3896:0.2427:0.2765	3.150	0.06097	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	2460.33	34	chr14	45227734	.	T	C	2460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.573;DP=908;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.94;SOR=0.491	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr14	45247130	45247132	AGG	-	exonic	MIS18BP1	.	nonframeshift deletion	MIS18BP1:NM_018353:exon2:c.155_157del:p.S52del	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00279553	0.0052	0.0005	0.0137	0.0001	0.0091	0.0046	0.0066	0.0059	0.0006147	16	26028	rs573451535	0.0048	0.0048	0.0049	0.0047	0.0107	0.0047	0.0046	0.0099	0.0096	0.0006	0.0107	0.0063	5.043e-05	0.0094	0.0028	0.0045	0.0042	0.0059	0.0038	0.0038	0.0036	0.0040	0.0052	0.0036	0.0035	0.0043	0.0041	0.0010	0	0.0041	0.0061	0.0002	0.0096	0.0034	0.0047	0.0014	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2060.29	33	chr14	45247129	.	AAGG	A	2060.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=735;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=-0.716;SOR=0.706	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr14	47097015	47097015	G	A	exonic	MDGA2	.	nonsynonymous SNV	MDGA2:NM_001113498:exon6:c.C827T:p.T276I,MDGA2:NM_182830:exon6:c.C140T:p.T47I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00683297824758	.	.	8.294e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs751457673	4.106e-06	4.104e-06	1.362e-06	6.878e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.996e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.265	0.22694	T	0.011	0.15914	B	0.068	0.27651	B	0.024778	0.26205	U	0.259021	0.998188	0.44603	D	1.46	0.36832	L	2.65	0.12676	T	-2.02	0.46503	N	0.618	0.63374	-1.0901	0.05515	T	0.037	0.15943	T	10	0.32823175	0.50095	T	0.006833	0.18065	T	0.193	0.47281	0.576	0.70087	0.379214838424	0.37538	0.5944270606555955	0.59372	0.402835054821	0.41226	0.581320405006	0.50272	T	0.042219	0.26113	T	-0.223598	0.17504	T	-0.377431	0.36023	T	0.64834588766098	0.38391	D	0.877512	0.59164	D	0.102744624	0.24279	0.1319891	0.31682	0.102744624	0.24279	0.1319891	0.31681	-7.723	0.60428	D	.	.	0.123	0.25882	B	.;.;.	.;.;.	3.179002	0.43146	21.7	0.76721073916559845	0.11582	0.94583	0.61639	D	AEFI	0.680363	0.64408	D	-0.0270059808365772	0.40636	2.416557	0.125093100454003	0.45836	2.839799	0.00401562855349561	0.10381	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.75	0.59954	3.637000	0.54065	9.724000	0.81376	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.077:0.1478:0.7752:0.0	9.221	0.36537	818	0.41518	.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	880.33	35	chr14	47097015	.	G	A	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=739;ExcessHet=0;FS=6.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.678;SOR=1.166	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr14	49622001	49622001	G	C	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.G733C:p.V245L	Congenital disorder of glycosylation, type IIa, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	99964	not_provided|MGAT2-congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0008908,MedGen:C2931008,OMIM:212066,Orphanet:79329	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.229	0.0199436626708	0.0013	0.000998403	0.0010	0.0003	0.0004	0	0.0002	0.0017	0.0011	0	0.0010802	167	154602	rs117536357	0.0016	0.0016	0.0017	0.0015	0.0031	0.0015	0.0015	0.0020	0.0018	0.0002	0.0004	0.0015	0	0.0003	0.0031	0.0019	0.0020	0.0002	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0002	0	0.0005	0.0020	0.0002	0.0003	0	0.0017	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.048	0.24975	B	0.000007	0.62929	D	0.063687	0.791012	0.34387	D	0.63	0.15941	N	-1.53	0.81559	D	0.84	0.01761	N	0.149	0.15187	-0.8085	0.54641	T	0.201	0.55794	T	10	0.012908131	0.00276	T	0.019944	0.42426	T	0.229	0.52916	0.528	0.63412	0.409069985131	0.40521	0.6776415797987517	0.67703	0.385980496119	0.39890	0.539225935936	0.44335	T	0.354362	0.72152	T	-0.306802	0.08033	T	-0.218403	0.52891	T	0.0525907724542399	0.05949	T	0.838916	0.51225	T	0.20110214	0.42109	0.11936707	0.28813	0.20110214	0.42109	0.11936707	0.28812	-3.15	0.11879	T	0.1277819858554375	0.13138	0.329	0.55180	B	.	.	2.784502	0.36587	20.3	0.88429445635511594	0.17969	0.78914	0.39009	D	AEFDBCI	0.751854	0.69253	D	-0.368750667458335	0.26589	1.452256	-0.108540859489874	0.35046	2.022882	0.999999613823645	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	6.0	5.11	0.69188	4.343000	0.59128	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0695:0.1281:0.67:0.1324	6.600	0.21892	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	5622.33	37	chr14	49622001	.	G	C	5622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1100;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.411;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y,DNAAF2:NM_018139:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	0	1439	78	5	0	88	0.0296696	.	.	.	222368	not_specified|Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012097	0.000000	0.012228	0.005848	0.000000	0.008621	0.021472	0.034091	0.02632	1106.33	111	chr14	49633744	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=919;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.733;SOR=0.687	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,100,1389	18	0	1	0
chr14	49635130	49635130	G	A	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C20T:p.S7F,DNAAF2:NM_018139:exon1:c.C20T:p.S7F	Ciliary dyskinesia, primary, 10	1	1508	12	1	0	14	0.00462046	.	.	.	213111	not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0101136859413	.	0.000199681	0.0035	0	0	0	0	0.0003	0	0.0083	0.0006274	97	154602	rs577796590	0.0004	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	8.074e-05	0	0	0	0.0027	2.118e-05	0.0004	0.0054	0.0002	0.0002	6.421e-05	0.0003	0.0046	0.0001	9.229e-05	0.0031	0.0026	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.05	0.51248	D	0.009	0.66756	D	0.984	0.63424	D	0.819	0.64797	P	.	.	.	.	0.503356	0.31707	N	1.995	0.54099	M	2.13	0.19588	T	-2.59	0.55821	D	0.252	0.37509	-0.9685	0.37510	T	0.101	0.37366	T	9	0.009665161	0.00217	T	0.010114	0.26258	T	0.087	0.25287	0.236	0.16608	0.72927479191	0.72687	0.32184284644197647	0.32097	1.49514861928	0.86947	0.454433053732	0.32550	T	0.009171	0.08364	T	-0.424665	0.01598	T	-0.380721	0.35636	T	0.161524948219995	0.17983	T	0.788521	0.42806	T	0.25770622	0.48816	0.41075352	0.65327	0.2703388	0.50106	0.38223016	0.63215	-7.294	0.56622	T	0.6279663289246598	0.69704	0.181	0.40213	B	.;.	.;.	3.636900	0.51541	23.1	0.99738282586439153	0.83264	0.80795	0.40343	D	ALL	0.217682	0.34278	N	0.323490202971488	0.57354	3.902628	0.287540932565007	0.54810	3.645087	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.28	5.28	0.74118	3.153000	0.50383	7.391000	0.58514	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	17.153	0.86663	840	0.37365	PIH1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.000000	0.005479	0.002941	0.000000	0.000000	0.003086	0.003846	0.05263	1597.83	40	chr14	49635130	.	G	A	1597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=775;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.141;SOR=0.698	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr14	50116518	50116518	G	A	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_001040662:exon1:c.C35T:p.P12L,VCPKMT:NM_024558:exon1:c.C35T:p.P12L	.	424	1092	5	1	0	7	0.00319489	.	.	.	2331863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00628124004761	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0012	0	0.0001746	27	154602	rs149656377	0.0001	0.0001	0.0001	0.0001	0.0069	9.878e-05	9.287e-05	0.0052	0.0046	2.989e-05	0.0004	0.0007	2.521e-05	0	0.0069	5.757e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	7.57e-05	6.276e-05	0.0001	8.281e-05	0	0	0.0003	0.0006	0.0002	0	0	0.0001	0	0	0.341	0.13436	T	0.382	0.17531	T	0.0	0.02946	B	0.0	0.01387	B	0.054831	0.22691	N	0.501723	0.999999	0.08975	N	1.445	0.36358	L	2.01	0.28604	T	-1.95	0.45222	N	0.221	0.24758	-1.0250	0.22083	T	0.028	0.11882	T	10	0.017997295	0.00388	T	0.006281	0.16493	T	0.029	0.06676	.	.	0.134241683229	0.13084	0.7865362964670163	0.78605	0.00633001268636	0.00551	0.458543181419	0.33110	T	0.004598	0.04008	T	-0.437354	0.01340	T	-0.549849	0.17341	T	0.0243842685526391	0.01193	T	0.857914	0.54791	D	0.10289829	0.24318	0.07060506	0.15022	0.10289829	0.24317	0.07060506	0.15021	-4.558	0.31640	T	.	.	0.156	0.40180	B	.;.	.;.	1.620767	0.20700	14.87	0.9549565548306298	0.27077	0.01529	0.05035	N	ALL	0.075382	0.15136	N	-0.90233775004609	0.10787	0.5172327	-0.824778191544577	0.13895	0.7232802	0.999999999999931	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	1.91	0.24841	0.858000	0.27500	2.888000	0.35372	0.676000	0.76740	0.012000	0.18695	0.434000	0.24870	0.400000	0.26782	0.1344:0.1367:0.5457:0.1832	4.607	0.11772	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.001359	0.017544	0.000000	0.017241	0.003049	0.000000	0.02632	2604.33	35	chr14	50116518	.	G	A	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.811;DP=909;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.115;SOR=0.853	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1390	18	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.02632	940.33	36	chr14	50443957	.	C	G	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.46;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	18	0	1	0
chr14	50723510	50723510	T	G	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon31:c.A6355C:p.N2119H	.	.	.	.	.	.	.	.	.	.	.	3845349	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0127990220681	.	0.000199681	8.293e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs572352459	2.053e-05	2.052e-05	2.315e-05	1.788e-05	0.0004	1.456e-05	1.264e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.439e-05	0	0	3.948e-05	3.94e-05	3.862e-05	4.038e-05	0.0001	1.717e-05	1.131e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	0.024	0.47745	D	0.047	0.48855	D	0.996	0.68779	D	0.939	0.67449	D	0.005287	0.32928	N	0.315765	1	0.81001	D	.	.	.	1.56	0.29602	T	-1.45	0.35597	N	0.343	0.38438	-1.0387	0.17709	T	0.098	0.36677	T	10	0.22942027	0.39869	T	0.012799	0.31686	T	0.069	0.20116	0.256	0.19689	0.548865971634	0.54542	.	.	.	.	0.574543476105	0.49319	T	.	.	.	-0.329709	0.06134	T	-0.529852	0.19300	T	0.71762228012085	0.41579	D	0.868613	0.57103	D	.	.	.	.	.	.	.	.	-5.069	0.37579	T	.	.	0.158	0.34927	B	.;.	.;.	4.332891	0.66407	25.0	0.99540396411539511	0.70461	0.96544	0.69671	D	AEFBI	0.679668	0.64362	D	0.548298295939868	0.69978	5.434593	0.593745154370098	0.74491	6.14592	0.999999386163376	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.513000	0.66754	6.053000	0.53107	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.077:0.0:0.923	9.753	0.39657	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	990.33	33	chr14	50723510	.	T	G	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=711;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.231;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	18	0	1	0
chr14	52020065	52020065	T	C	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon13:c.A2788G:p.I930V	.	427	1091	4	0	0	4	0.00182983	.	.	.	2810420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.0402641274966	0.0015	0.000599042	0.0014	0	0.0003	0	0	0.0025	0	6.056e-05	0.0014036	217	154602	rs144774059	0.0018	0.0018	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0006	0.0092	0	0.0002	0.0010	0.0020	0.0017	0.0002	0.0013	0.0013	0.0014	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0004	0	0.0010	0.0081	0	0.0002	0.0034	0.0019	0.0033	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.901360	0.07357	N	1.040490	1	0.08975	N	-0.315	0.03579	N	-1.58	0.81987	D	0.13	0.05503	N	0.051	0.02272	-0.8417	0.52533	T	0.192	0.54492	T	10	0.004845947	0.00103	T	0.040264	0.59280	D	0.197	0.47942	.	.	0.241664281697	0.23763	0.15844484038310688	0.15765	0.0748853827465	0.08398	0.274481266737	0.06734	T	0.134608	0.46595	T	-0.487849	0.00668	T	-0.479085	0.24544	T	0.00740674200592554	0.00085	T	0.129387	0.01014	T	0.025367992	0.01468	0.022839013	0.00302	0.025367992	0.01468	0.022839013	0.00302	-1.6	0.01982	T	.	.	0.086	0.10642	B	.;.	.;.	0.163792	0.05541	1.999	0.40594292780866481	0.02875	0.03370	0.08468	N	AEFBI	0.102703	0.20596	N	-1.74406768782915	0.00697	0.03009167	-1.77840712667811	0.00831	0.03710387	0.999999999956619	0.74766	0.661447	0.50134	0	0.547309	0.14657	0	0.644132	0.48003	0	0.563494	0.21769	0	.	.	5.42	-10.8	0.00171	-0.842000	0.04462	-0.032000	0.12782	-0.132000	0.13132	0.000000	0.06391	0.785000	0.26813	0.498000	0.28972	0.2218:0.3516:0.0778:0.3488	2.945	0.05487	895	0.25842	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1518.33	36	chr14	52020065	.	T	C	1518.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.707;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.708;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1333	18	0	1	0
chr14	52028763	52028763	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.G2489A:p.R830Q	.	427	1043	45	7	0	59	0.0275058	.	.	.	3500838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.182	.	0.0112	0.0177716	0.0084	0.0187	0.0060	0.0216	0.0006	0.0045	0.0066	0.0158	0.0079947	1236	154602	rs7144523	0.0056	0.0056	0.0051	0.0060	0.0454	0.0055	0.0054	0.0409	0.0392	0.0171	0.0063	0.0249	0.0349	0.0015	0.0454	0.0026	0.0090	0.0169	0.0090	0.0090	0.0086	0.0094	0.0306	0.0086	0.0084	0.0268	0.0253	0.0163	0	0.0073	0.0210	0.0306	0.0012	0.0374	0.0033	0.0113	0.0153	0.617	0.05357	T	0.72	0.06147	T	0.032	0.20242	B	0.008	0.13708	B	0.075333	0.21230	N	0.558460	0.995152	0.24245	N	0.4	0.12274	N	-2.2	0.86888	D	0.23	0.04613	N	0.125	0.11769	-0.7669	0.57027	T	0.156	0.48772	T	10	0.0041407347	0.00082	T	.	.	.	0.182	0.45420	.	.	0.629173233237	0.62614	0.2754759937405691	0.27460	0.106631379712	0.12050	0.237848654389	0.02599	T	0.117612	0.43781	T	-0.398745	0.02360	T	-0.306817	0.44000	T	0.00933876780114129	0.00119	T	0.876412	0.60266	D	0.06400333	0.13534	0.036218125	0.03024	0.06400333	0.13534	0.036218125	0.03024	-2.335	0.04750	T	.	.	0.083	0.09191	B	.;.	.;.	2.030002	0.25802	16.89	0.98198910300172382	0.39105	0.04564	0.10207	N	AEFBI	0.053034	0.09519	N	-0.435810968365076	0.24223	1.306472	-0.325364618916186	0.27281	1.512757	0.999937259810121	0.46732	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	3.84	0.43422	-0.460000	0.06797	-1.340000	0.05675	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.898000	0.43474	0.1766:0.3843:0.3298:0.1093	2.629	0.04639	899	0.25060	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.034240	0.010101	0.036685	0.078947	0.000000	0.025862	0.018293	0.022727	0.05263	4833.83	56	chr14	52028763	.	C	T	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=1031;ExcessHet=0.119;FS=6.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=1.04;SOR=0.998	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	17	0	2	0
chr14	52028821	52028821	G	A	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.C2431T:p.R811C	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0553528363534	7.7e-05	0.000998403	0.0007	9.614e-05	8.643e-05	0	0	8.994e-05	0	0.0049	0.000608	94	154602	rs142228436	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	5.976e-05	4.477e-05	0	0	0	0.0003	2.788e-05	0.0003	0.0050	0.0002	0.0002	7.712e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	6.537e-05	0	0	0	0	5.88e-05	0	0.0054	0.18	0.21968	T	0.115	0.42976	T	0.981	0.59675	D	0.513	0.47989	P	0.191899	0.16825	N	0.663930	1	0.08975	N	1.45	0.36711	L	-2.27	0.87433	D	-2.84	0.59873	D	0.444	0.48227	-1.0239	0.22443	T	0.112	0.40099	T	10	0.015612453	0.00328	T	0.055353	0.66203	D	0.436	0.74093	.	.	0.72890070338	0.72649	0.49063320400771254	0.48983	0.466582886664	0.46057	0.210106372833	0.00816	T	0.295631	0.66828	T	-0.262861	0.12567	T	-0.150228	0.59223	T	0.0851079537451219	0.10628	T	0.415458	0.10884	T	0.08773219	0.20442	0.07748207	0.17264	0.08773219	0.20441	0.07748207	0.17264	-10.532	0.77031	D	.	.	0.189	0.48050	B	.;.	.;.	4.587865	0.72538	25.8	0.99730430361464295	0.82690	0.17244	0.19752	N	AEFBI	0.206275	0.33255	N	-0.384665430302689	0.26014	1.416588	-0.403764150508429	0.24886	1.36534	0.999986028267624	0.51787	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	4.08	0.46880	2.018000	0.40610	6.070000	0.53248	-0.111000	0.15049	0.151000	0.23669	0.996000	0.32793	0.967000	0.53440	0.0719:0.0:0.7906:0.1375	10.104	0.41692	899	0.25060	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1384.33	121	chr14	52028821	.	G	A	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.891;SOR=0.641	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr14	52268440	52268440	T	C	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon1:c.T626C:p.L209P,PTGDR:NM_001281469:exon1:c.T626C:p.L209P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.172248826125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.84e-07	0	1.379e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	0.001833	0.37892	N	0.000000	1	0.81001	D	3.245	0.89746	M	-0.73	0.73100	T	-4.92	0.82141	D	0.878	0.87590	0.136	0.84810	D	0.522	0.82148	D	10	0.94877994	0.94208	D	0.172249	0.84928	D	0.799	0.93425	0.747	0.87821	0.856500699454	0.85512	0.7497060641548979	0.74917	1.36629729331	0.84451	0.607490718365	0.53961	T	0.518821	0.83134	D	0.241777	0.77830	D	0.109519	0.77543	D	0.997274577617645	0.91171	D	0.680832	0.33571	T	0.95519525	0.96793	0.95229924	0.98536	0.95519525	0.96794	0.95229924	0.98537	-8.757	0.66119	D	.	.	0.459	0.63028	A	.;.	.;.	5.026603	0.83571	28.1	0.99885303575112638	0.96049	0.94122	0.60179	D	AEFDGBCI	0.833341	0.75157	D	0.596135503568792	0.72934	5.884325	0.527515897193713	0.69848	5.41928	0.999999999999912	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.76	4.76	0.60189	3.914000	0.56114	7.576000	0.60835	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.806	0.62724	913	0.21160	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	35	chr14	52268440	.	T	C	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=742;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-1.557;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr14	52268578	52268578	C	T	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon1:c.C764T:p.P255L,PTGDR:NM_001281469:exon1:c.C764T:p.P255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00904908787485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293562434	1.37e-06	1.368e-06	1.363e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.161e-05	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.705	0.04379	T	0.799	0.04539	T	0.0	0.02946	B	0.001	0.04355	B	0.995303	0.07929	N	1.002520	1	0.08975	N	0.49	0.13296	N	-0.48	0.70249	T	0.67	0.03297	N	0.161	0.19055	-0.9407	0.42505	T	0.226	0.59007	T	10	0.074781775	0.11474	T	0.009049	0.23821	T	0.050	0.13987	0.464	0.53404	0.399159426805	0.39527	0.2067759245851882	0.20593	0.329700171431	0.35074	0.429813146591	0.29183	T	0.055026	0.29890	T	-0.221858	0.17740	T	-0.55646	0.16710	T	0.0904271975159645	0.11268	T	0.531147	0.17633	T	0.019589897	0.00493	0.036885113	0.03227	0.019589897	0.00492	0.036885113	0.03226	-3.349	0.14378	T	.	.	0.075	0.05711	B	.;.	.;.	0.468472	0.08381	5.134	0.93947952851966354	0.24007	0.07795	0.13792	N	AEFDBHCI	0.055756	0.10250	N	-1.02751101330484	0.08036	0.3753895	-1.04137938217368	0.08887	0.4392352	0.999989855744301	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.38	1.54	0.22290	-0.095000	0.11043	-0.223000	0.10745	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6644:0.0:0.3356	8.269	0.30993	913	0.21160	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	35	chr14	52268578	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=705;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.336;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A,TXNDC16:NM_020784:exon21:c.T2464G:p.S822A	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1126.33	33	chr14	52432318	.	A	C	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.589;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1206	18	0	1	0
chr14	52613719	52613719	G	A	splicing	GPR137C	NM_001353361:exon4:c.765+1G>A	.	.	.	433	1083	6	0	0	6	0.00276243	0	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0061	.	.	0	.	0.0333	0	0	0.0001294	20	154602	rs557086463	0.0003	0.0002	0.0005	0.0002	0.0010	0.0003	0.0002	0.0002	8.557e-05	0	0	0.0055	0	0	0.0010	0.0002	0.0006	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0001	0.0072	0	0	0.0034	0.0003	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.33	24	chr14	52613719	.	G	A	52.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=-0.135;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	18	0	1	0
chr14	52864465	52864465	G	A	exonic	FERMT2	.	nonsynonymous SNV	FERMT2:NM_001134999:exon12:c.C1538T:p.T513M,FERMT2:NM_001135000:exon12:c.C1538T:p.T513M,FERMT2:NM_006832:exon12:c.C1538T:p.T513M	.	429	1078	14	1	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0156507494034	0.0029	0.00199681	0.0025	0.0005	0.0016	0.0012	0.0005	0.0035	0.0044	0.0015	0.0025873	400	154602	rs79804050	0.0028	0.0028	0.0028	0.0029	0.0066	0.0028	0.0027	0.0049	0.0044	0.0006	0.0022	0.0015	0.0010	0.0007	0.0066	0.0032	0.0022	0.0016	0.0022	0.0023	0.0024	0.0021	0.0039	0.0021	0.0020	0.0035	0.0034	0.0005	0	0.0022	0.0006	0.0004	0.0006	0.0102	0.0039	0.0019	0.0006	0.081	0.34444	T	0.044	0.49663	D	0.879	0.48338	P	0.735	0.55480	P	0.000001	0.84330	D	0.096130	0.998729	0.45339	D	1.445	0.36358	L	0.88	0.46028	T	-1.49	0.38924	N	0.25	0.33469	-1.0792	0.07504	T	0.100	0.37239	T	10	0.007977009	0.00181	T	0.015651	0.36500	T	0.071	0.20720	.	.	0.275349458131	0.27150	0.3569833315123435	0.35612	0.417717680822	0.42384	0.624074220657	0.56304	T	0.359994	0.72630	T	-0.421402	0.01676	T	-0.378236	0.35930	T	0.00987061957650193	0.00131	T	0.984801	0.94749	D	0.079270944	0.18101	0.12916058	0.31062	0.079270944	0.18101	0.12916058	0.31061	-5.489	0.41765	T	.	.	0.087	0.17488	B	.;.;.;.;.;.	.;.;.;.;.;.	4.614657	0.73217	26.0	0.99830713014182548	0.91284	0.93959	0.59690	D	AEFDBI	0.581951	0.58176	D	0.376994047818518	0.60176	4.203887	0.467686577383209	0.65859	4.877491	0.999999978870604	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	3.249000	0.51138	9.983000	0.82936	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.7373:0.2627	14.199	0.65232	782	0.47442	FERM central domain|Band 4.1 domain;FERM central domain|Band 4.1 domain;FERM central domain|Band 4.1 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.02632	2005.33	134	chr14	52864465	.	G	A	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.036;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	54531033	54531033	C	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon4:c.C553T:p.R185W	.	432	1077	13	0	0	13	0.00599908	.	.	.	725692	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0075	0.00339457	0.0074	0.0019	0.0079	0	0.0033	0.0105	0.0070	0.0040	0.0071927	1112	154602	rs34839928	0.0089	0.0090	0.0090	0.0089	0.0125	0.0088	0.0087	0.0102	0.0099	0.0026	0.0102	0.0010	0.0001	0.0044	0.0125	0.0101	0.0103	0.0030	0.0075	0.0075	0.0075	0.0074	0.0189	0.0071	0.0070	0.0171	0.0164	0.0021	0	0.0189	0.0006	0	0.0028	0.0102	0.0100	0.0156	0.0027	0.014	0.53172	D	0.019	0.59159	D	0.999	0.77913	D	0.828	0.59497	P	0.000525	0.43581	D	0.252112	0.994756	0.42403	D	1.845	0.48678	L	1.62	0.28189	T	-2.27	0.50666	N	0.656	0.66615	-1.0566	0.12621	T	0.067	0.27502	T	10	0.006599784	0.00149	T	.	.	.	0.101	0.28911	.	.	0.415313616471	0.41148	0.6283870788807333	0.62771	0.451217625391	0.44872	0.34764662385	0.17576	T	0.075838	0.35275	T	-0.449287	0.01140	T	-0.40647	0.32632	T	0.0550796537655671	0.06371	T	0.868613	0.57103	D	0.106639296	0.25216	0.10118104	0.24215	0.106639296	0.25216	0.10118104	0.24215	-7.207	0.55532	T	.	.	0.152	0.33619	B	.	.	4.825046	0.78622	26.9	0.99915803401393699	0.98379	0.85415	0.44545	D	AEFBI	0.534647	0.55360	D	0.430531300260457	0.63109	4.538369	0.438042491003234	0.63954	4.639709	0.716162251239113	0.22876	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	4.59	0.56297	2.768000	0.47329	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4859:0.5141:0.0:0.0	12.301	0.54197	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013118	0.015152	0.014986	0.011765	0.000000	0.017241	0.012195	0.003788	0.07895	489.79	33	chr14	54531033	.	C	T	489.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.717;DP=716;ExcessHet=0.3672;FS=16.915;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=-0.093;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:99:.:.:161,0,784:.	16	0	3	0
chr14	54538305	54538305	G	A	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon6:c.G921A:p.M307I	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00841996033532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.10730	T	0.429	0.13752	T	0.002	0.09854	B	0.003	0.08700	B	0.000000	0.84330	N	0.132682	0.924793	0.36786	D	-0.71	0.01811	N	0.33	0.58323	T	-1.57	0.37955	N	0.242	0.27316	-1.0007	0.29717	T	0.058	0.24354	T	10	0.1394273	0.26511	T	0.00842	0.22282	T	0.072	0.21020	0.446	0.50466	0.328222422547	0.32431	0.285345542659043	0.28447	0.0952479098463	0.10753	0.436008542776	0.30031	T	0.012257	0.10804	T	-0.13987	0.29911	T	-0.43869	0.28956	T	0.517722189426422	0.33281	D	0.788921	0.42853	T	0.18401185	0.39696	0.14656495	0.34717	0.18401185	0.39696	0.14656495	0.34716	-4.902	0.35757	T	.	.	0.522	0.65590	A	.	.	2.264309	0.28933	17.96	0.95358605138983965	0.26754	0.62572	0.31822	D	AEFDGBCI	0.396688	0.47306	N	-0.576517491254029	0.19659	1.030654	-0.31166867537478	0.27721	1.540251	0.99999957039216	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.48	0.53973	3.183000	0.50619	11.834000	0.97615	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.734000	0.35233	0.15:0.0:0.85:0.0	10.132	0.41861	810	0.42761	Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1189.33	33	chr14	54538305	.	G	A	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=725;ExcessHet=0;FS=2.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.408;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr14	54967354	54967354	G	T	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon16:c.C1735A:p.P579T,WDHD1:NM_007086:exon17:c.C2104A:p.P702T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.114186423784	.	.	8.244e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs748778959	7.533e-06	7.524e-06	1.363e-06	1.376e-05	4.64e-05	4.04e-06	2.96e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	4.501e-06	3.318e-05	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-0.27	0.72237	T	-7.01	0.93764	D	0.948	0.97643	0.404	0.89160	D	0.622	0.86705	D	10	0.90006703	0.89366	D	0.114186	0.79295	D	0.745	0.91198	0.716	0.85141	0.912907702155	0.91203	0.7595711650292402	0.75905	0.292833755154	0.31705	0.760838508606	0.76054	T	0.363142	0.72893	T	0.233586	0.77058	D	0.279282	0.87088	D	0.979832530021667	0.73038	D	0.950905	0.81262	D	0.92919356	0.94157	0.87627053	0.93301	0.92919356	0.94158	0.87627053	0.93302	-13.296	0.90545	D	.	.	0.961	0.88170	P	.;.	.;.	5.031540	0.83682	28.1	0.99787258688260816	0.87308	0.99271	0.93751	D	AEFGBI	0.891290	0.82713	D	0.969489984729422	0.94727	12.98926	0.904863270293184	0.95781	13.96173	0.999999997704073	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	9.352000	0.96480	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.039	0.92972	716	0.55970	Minichromosome loss protein Mcl1, middle region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	34	chr14	54967354	.	G	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.162;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	18	0	1	0
chr14	55000983	55000983	T	C	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon8:c.A334G:p.I112V,WDHD1:NM_007086:exon9:c.A703G:p.I235V	.	475	1032	14	1	0	16	0.00769231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00516774101649	0.0032	0.00119808	0.0036	0.0009	0.0010	0	0.0005	0.0059	0.0022	0.0012	0.0037451	579	154602	rs139440460	0.0049	0.0049	0.0050	0.0048	0.0060	0.0048	0.0048	0.0059	0.0058	0.0007	0.0009	4.038e-05	0	0.0007	0.0013	0.0060	0.0039	0.0013	0.0030	0.0030	0.0035	0.0025	0.0053	0.0028	0.0027	0.0048	0.0047	0.0012	0	0.0018	0	0.0002	0.0005	0.0136	0.0053	0.0019	0.0014	0.703	0.04728	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.003298	0.35154	N	0.337163	0.835746	0.34987	D	-0.805	0.01590	N	5.06	0.60236	T	-0.14	0.09135	N	0.19	0.20793	-1.0220	0.23063	T	0.049	0.20750	T	10	0.0100622475	0.00225	T	0.005168	0.13156	T	0.140	0.37593	.	.	0.338592109245	0.33472	0.19875261694410665	0.19792	0.0358391572487	0.03777	0.255034387112	0.04317	T	0.001377	0.00840	T	-0.572901	0.00213	T	-0.591984	0.13495	T	0.0113591136742739	0.00169	T	0.769823	0.39947	T	0.024497904	0.01287	0.042299647	0.05007	0.024497904	0.01287	0.042299647	0.05006	-1.971	0.07964	T	.	.	0.055	0.00461	B	.;.	.;.	-0.027493	0.04097	0.963	0.82568697010288927	0.14260	0.44224	0.27271	N	AEFBI	0.068965	0.13629	N	-1.03150390713715	0.07955	0.3713534	-0.924305012228387	0.11521	0.5874422	0.16675878956412	0.17675	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.56	-6.18	0.01906	0.065000	0.14336	-1.103000	0.06322	0.605000	0.46263	0.936000	0.32490	0.003000	0.18671	0.996000	0.76049	0.0:0.7249:0.0:0.2751	17.591	0.87895	707	0.57054	Anaphase-promoting complex subunit 4, WD40 domain|WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1372.83	35	chr14	55000983	.	T	C	1372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=688;ExcessHet=0.119;FS=8.529;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.61;SOR=0.242	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	17	0	2	0
chr14	55044322	55044325	AGTT	-	exonic	SOCS4	.	frameshift deletion	SOCS4:NM_080867:exon2:c.1281_1284del:p.V428Efs*21,SOCS4:NM_199421:exon3:c.1281_1284del:p.V428Efs*21	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.116e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749490375	4.859e-05	4.857e-05	1.771e-05	7.98e-05	0.0008	3.928e-05	3.606e-05	0.0006	0.0006	0	0	0	0	0	0.0004	8.996e-07	3.313e-05	0.0008	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	2107.79	33	chr14	55044321	.	AAGTT	A	2107.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=737;ExcessHet=0.119;FS=3.421;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=0.547;SOR=1.017	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	17	0	2	0
chr14	55062858	55062858	C	T	exonic	MAPK1IP1L	.	nonsynonymous SNV	MAPK1IP1L:NM_144578:exon3:c.C259T:p.P87S	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00366652694217	.	.	0.0001	0	8.639e-05	0	0	0	0.0011	0.0008	0.0001164	18	154602	rs750233436	4.994e-05	4.994e-05	2.995e-05	7.013e-05	0.0005	4.059e-05	3.734e-05	0.0004	0.0003	0	0.0002	0.0002	0	0	0.0002	6.295e-06	0.0001	0.0005	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.879e-05	0	0.0008	0.015	0.52492	D	0.052	0.47581	T	0.665	0.41045	P	0.347	0.42698	B	0.001734	0.38161	N	0.119911	0.872691	0.35594	D	1.04	0.26193	L	.	.	.	-6.94	0.93440	D	0.3	0.33904	-0.6934	0.60749	T	0.172	0.51389	T	9	0.11027491	0.20606	T	0.003667	0.08464	T	0.133	0.36157	.	.	0.429091045357	0.42525	0.32783587670109804	0.32696	0.152792936813	0.17245	0.602920114994	0.53317	T	0.228833	0.59449	T	-0.254676	0.13530	T	-0.236009	0.51187	T	0.116941251987873	0.14127	T	0.765923	0.39354	T	0.46268436	0.64838	0.39471582	0.64158	0.46268436	0.64839	0.39471582	0.64158	-3.465	0.15945	T	.	.	0.073	0.04847	B	.;.	.;.	3.240181	0.44223	21.9	0.99915242407495519	0.98379	0.84515	0.43597	D	AEFGBCI	0.279996	0.39392	N	0.253296686760706	0.53802	3.547663	0.352809450802149	0.58677	4.039679	0.999996229501952	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	2.820000	0.47757	4.901000	0.45859	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.100	0.86523	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1428.33	34	chr14	55062858	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=731;ExcessHet=0;FS=7.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.29;SOR=1.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr14	55154745	55154745	T	A	exonic	DLGAP5	.	nonsynonymous SNV	DLGAP5:NM_001146015:exon15:c.A1935T:p.K645N,DLGAP5:NM_014750:exon15:c.A1935T:p.K645N	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00740455765775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.56640	D	0.842	0.46562	P	0.326	0.41929	B	0.892903	0.07307	N	1.056020	1	0.08975	N	2.34	0.67151	M	2.6	0.13204	T	-1.39	0.34397	N	0.23	0.25867	-1.0006	0.29746	T	0.029	0.12541	T	10	0.109202236	0.20361	T	0.007405	0.19630	T	0.105	0.29889	0.129	0.03412	0.137902524267	0.13322	0.1472618928237294	0.14648	0.136271015109	0.15368	0.314443320036	0.12578	T	0.06811	0.33375	T	-0.32094	0.06821	T	-0.698784	0.05892	T	0.532162189483643	0.33814	D	0.749425	0.37065	T	0.093372524	0.21929	0.08842337	0.20615	0.093372524	0.21929	0.08842337	0.20615	-4.791	0.34487	T	.	.	0.281	0.51419	B	.;.	.;.	2.651274	0.34524	19.65	0.99748022673622772	0.84002	0.06530	0.12542	N	AEFBI	0.071964	0.14347	N	-0.390112413754402	0.25820	1.404498	-0.488605575205645	0.22467	1.220419	0.222667644434863	0.18374	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.2	1.71	0.23429	1.256000	0.32524	2.023000	0.30218	0.665000	0.62972	0.030000	0.20431	0.906000	0.28050	0.972000	0.54974	0.3383:0.0:0.0:0.6617	7.688	0.27716	838	0.37812	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	33	chr14	55154745	.	T	A	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=680;ExcessHet=0;FS=4.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.063;SOR=0.25	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	18	0	1	0
chr14	55440467	55440467	-	TGGGGG	exonic	TBPL2	.	nonframeshift insertion	TBPL2:NM_199047:exon1:c.78_79insCCCCCA:p.P26_T27insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0003	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs747839285	5.48e-05	6.226e-05	4.907e-05	6.059e-05	0.0002	4.483e-05	4.153e-05	5.396e-05	4.042e-05	0	8.947e-05	0.0003	2.521e-05	0	0.0002	4.95e-05	3.314e-05	0.0001	2.631e-05	2.628e-05	0	5.385e-05	4.413e-05	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.413e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	786.77	40	chr14	55440467	.	T	TTGGGGG	786.77	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.84;SOR=2.948	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	1	0	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	243.02	158	chr14	58138194	.	A	G	243.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.789;DP=1733;ExcessHet=0.119;FS=120.485;InbreedingCoeff=-0.0615;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.03;SOR=9.869	GT:AD:DP:GQ:PL	0/0:121,0:121:74:0,74,3004	17	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:45,17:62:95:95,0,771	3	0	16	0
chr14	58365301	58365301	G	A	splicing	ARID4A	NM_023001:exon20:c.3211+1G>A;NM_023000:exon20:c.3211+1G>A;NM_002892:exon20:c.3211+1G>A	.	.	.	431	1077	13	1	0	15	0.00691563	1.0000	0.932	.	265402	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00199681	0.0041	0.0016	0.0017	0	0.0036	0.0059	0.0035	0.0028	0.0042755	661	154602	rs62621193	0.0058	0.0058	0.0059	0.0057	0.0116	0.0057	0.0057	0.0094	0.0086	0.0013	0.0019	0.0098	0	0.0038	0.0116	0.0066	0.0051	0.0029	0.0037	0.0037	0.0041	0.0032	0.0060	0.0034	0.0033	0.0055	0.0053	0.0010	0	0.0022	0.0081	0.0002	0.0034	0.0034	0.0060	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0639939	0.60112	T	0.327108	0.89389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.550151	0.95389	35	0.98911125578790615	0.48381	0.99635	0.98202	D	AEFBI	.	.	.	1.1821638468762	0.99370	22.22698	1.03610099662319	0.99211	21.24358	0.999999999820252	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.125526	0.03468	0	0.117559	0.03655	0	0.983059	0.89644	5.37	5.37	0.76949	8.494000	0.90314	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.092	0.93212	875	0.30485	.;.;.;.	.	.	.	.	rs62621193	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	619.33	35	chr14	58365301	.	G	A	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=675;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.19;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	18	0	1	0
chr14	58645723	58645723	C	A	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.C989A:p.T330K,DACT1:NM_016651:exon4:c.C1100A:p.T367K	.	9	1501	12	0	0	12	0.00398142	.	.	.	754090	Townes-Brocks_syndrome_2|not_specified|not_provided	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0140035735463	.	0.000399361	0.0002	0	0.0003	0	0	0.0001	0	0.0012	0.000207	32	154602	rs564164674	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0008	0	0.0009	0	0	0	0.0017	4.227e-05	0.0001	0.0010	0.0001	0.0001	0.0001	0.0001	0.0008	8.656e-05	7.25e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	7.348e-05	0	0.0008	0.034	0.47745	D	0.251	0.47581	T	0.759	0.43487	P	0.438	0.45631	B	0.012976	0.28994	N	0.378995	0.569963	0.31186	N	2.35	0.67516	M	0.91	0.44856	T	-3.12	0.79915	D	0.565	0.58968	-0.9428	0.42169	T	0.105	0.38415	T	10	0.02031061	0.00466	T	0.014004	0.33816	T	0.074	0.21613	.	.	0.357630699053	0.35373	0.39941391303586227	0.39856	0.515104095024	0.49428	0.481018781662	0.36196	T	0.038856	0.50540	T	-0.392158	0.02605	T	-0.381636	0.35531	T	0.0908666578497794	0.11320	T	0.845515	0.56350	T	0.16896327	0.37385	0.19213082	0.42711	0.16896327	0.37385	0.19213082	0.42710	-3.462	0.15904	T	.	.	0.429	0.63694	A	.;.;.;.;.	.;.;.;.;.	2.668518	0.34787	19.72	0.9832694821084631	0.40300	0.43778	0.27173	N	AEFDGBI	0.253129	0.37268	N	-0.269107675553677	0.30347	1.691326	-0.299019192149437	0.28130	1.566067	0.999999671060516	0.74766	0.700653	0.57754	0	0.546412	0.12157	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.46	3.55	0.39770	1.017000	0.29591	4.045000	0.41458	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.991000	0.66497	0.0:0.6314:0.2876:0.081	8.575	0.32753	474	0.77851	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2404.33	42	chr14	58645723	.	C	A	2404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.17;DP=789;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-2.91;SOR=0.721	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1257	18	0	1	0
chr14	59576772	59576772	C	A	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon1:c.G4T:p.A2S	.	490	1030	2	0	0	2	0.000969932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0831008250476	.	0.000798722	0.0010	0	0	0	0	0	0	0.0022	0.0001164	18	154602	rs541218933	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0021	5.578e-05	0.0003	0.0025	9.196e-05	9.187e-05	7.71e-05	0.0001	0.0025	5.526e-05	4.363e-05	0.0014	0.0011	0	0	0	0	0	0	0	2.941e-05	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.214354	0.16289	N	0.514586	0.880075	0.28064	N	2.175	0.60977	M	1.55	0.30401	T	-1.08	0.28084	N	0.114	0.10198	-0.9364	0.43180	T	0.152	0.48170	T	6	0.010012358	0.00224	T	0.083101	0.74043	D	.	.	.	.	0.0551355673512	0.04727	0.0841735752962845	0.08351	.	.	0.467587769032	0.34349	T	0.005458	0.15311	T	-0.528086	0.00394	T	-0.536573	0.18634	T	0.176099171915696	0.18985	T	0.489851	0.15048	T	0.13267383	0.30885	0.16200858	0.37655	0.13267383	0.30884	0.16200858	0.37654	-3.821	0.21119	T	.	.	0.160	0.35393	B	.;.	.;.	1.628446	0.20790	14.91	0.99724073860010531	0.82266	0.33410	0.24821	N	ALL	0.112893	0.22296	N	-0.0648574483931777	0.38942	2.288601	-0.101948165016205	0.35312	2.041448	0.999999999996672	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.61	3.61	0.40494	0.190000	0.16864	0.003000	0.13321	-0.223000	0.07921	0.611000	0.27839	0.819000	0.27109	0.029000	0.12982	0.0:1.0:0.0:0.0	11.053	0.47119	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	34	chr14	59576772	.	C	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=693;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=-0.113;SOR=0.425	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr14	59985162	59985162	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon17:c.G2149A:p.G717R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0590235083667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.487	0.11656	T	.	.	.	.	.	.	.	.	.	.	0.503812	0.31763	D	.	.	.	1.93	0.22881	T	-2.17	0.49018	N	0.433	0.47208	.	.	.	.	.	.	.	0.2680704	0.44324	T	0.059024	0.67521	D	.	.	.	.	0.549460442827	0.54601	0.5867825390884617	0.58608	.	.	.	.	.	0.009155	0.08356	T	-0.100003	0.36423	T	-0.381424	0.35556	T	.	.	.	0.737326	0.35372	T	0.13236158	0.30823	0.2226657	0.47118	0.13236158	0.30823	0.2226657	0.47117	-10.076	0.74366	D	.	.	0.447	0.62063	A	.;.	.;.	3.642305	0.51655	23.1	0.99912023357242985	0.98095	0.90343	0.51443	D	AEFI	0.574492	0.57725	D	.	.	.	.	.	.	7.95107987178767E-4	0.07826	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	4.49	0.54177	3.863000	0.55728	6.547000	0.55900	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.7828:0.1423	9.724	0.39484	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	36	chr14	59985162	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.581;SOR=0.743	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr14	60108219	60108219	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_001330177:exon2:c.A581G:p.N194S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0257229086084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.09209	T	0.099	0.38891	T	.	.	.	.	.	.	1.000000	0.07966	U	0.063246	0.999992	0.81001	D	1.935	0.51832	L	1.92	0.23082	T	-2.29	0.50992	N	0.404	0.69737	-1.1334	0.01627	T	0.066	0.27156	T	7	0.2370556	0.40799	T	0.025723	0.48675	D	0.115	0.32236	0.516	0.61611	0.318252033908	0.31440	0.5988530160479648	0.59816	.	.	.	.	.	0.005129	0.04570	T	-0.207893	0.19678	T	-0.5364	0.18652	T	0.6265747834758	0.37476	D	0.866213	0.59551	D	0.04146725	0.06112	0.048747126	0.07304	0.04146725	0.06112	0.048747126	0.07304	-1.84	0.02631	T	.	.	0.132	0.28348	B	.;.	.;.	3.181643	0.43193	21.7	0.98749891073854568	0.45633	0.98162	0.80137	D	AEFGBI	0.832991	0.75127	D	0.333460604784091	0.57874	3.956515	0.424602286392914	0.63100	4.537395	0.999999889888825	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.170000	0.77150	9.385000	0.80541	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9248:0.0:0.0752:0.0	10.607	0.44592	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2730.33	39	chr14	60108219	.	A	G	2730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=894;ExcessHet=0;FS=1.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-1.314;SOR=0.894	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr14	60118678	60118678	C	T	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon6:c.C1226T:p.A409V,PCNX4:NM_001330177:exon7:c.C1928T:p.A643V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00881927067505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.04e-06	8.893e-06	1.112e-05	2.853e-06	9.202e-06	3.56e-06	2.6e-06	4.65e-06	3.39e-06	0	0	0	0	0	0	9.202e-06	0	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.029	0.46129	D	0.196	0.43159	T	0.089	0.29046	B	0.017	0.21741	B	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.93	0.51437	L	1.82	0.25182	T	-2.27	0.51811	N	0.214	0.25745	-1.0926	0.05112	T	0.072	0.29098	T	10	0.1736612	0.32205	T	0.008819	0.23269	T	0.075	0.21907	0.234	0.16305	0.180583059064	0.17676	0.6838740608051214	0.68326	0.0129856072913	0.01249	0.433189749718	0.29645	T	0.019989	0.24493	T	-0.0964561	0.37010	T	-0.376329	0.36151	T	0.776760935783386	0.44849	D	0.869013	0.57479	D	0.2856421	0.51585	0.22314222	0.47183	0.2856421	0.51584	0.22314222	0.47182	-5.461	0.41502	T	.	.	0.117	0.26232	B	.;.;.	.;.;.	3.369484	0.46553	22.3	0.99739434161826201	0.83409	0.98257	0.80997	D	AEFGBI	0.513372	0.54120	D	0.0874368603353201	0.45876	2.837015	0.23228248409557	0.51646	3.345476	0.999997430377815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.23	0.72570	4.481000	0.59983	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8531:0.0:0.1469	12.417	0.54835	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	40	chr14	60118678	.	C	T	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.395;DP=758;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.375;SOR=0.593	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr14	60125773	60125773	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon9:c.A2515G:p.I839V,PCNX4:NM_001330177:exon10:c.A3217G:p.I1073V	.	440	1067	15	0	0	15	0.00697999	.	.	.	2810450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00536513960952	0.0031	0.00199681	0.0037	0.0003	0.0023	0.0001	0.0006	0.0051	0.0012	0.0042	0.0036481	564	154602	rs145320435	0.0043	0.0043	0.0044	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0006	0.0028	0.0084	5.064e-05	0.0008	0.0031	0.0048	0.0038	0.0042	0.0034	0.0034	0.0035	0.0033	0.0059	0.0032	0.0031	0.0049	0.0045	0.0008	0.0066	0.0059	0.0060	0.0002	0.0008	0.0068	0.0048	0.0052	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.006555	0.31955	N	0.323849	0.904636	0.31372	N	-0.865	0.01458	N	1.2	0.37405	T	0.19	0.04947	N	0.062	0.03392	-0.9402	0.42584	T	0.028	0.12058	T	10	0.0047587156	0.00101	T	0.005365	0.13740	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.21568530189674243	0.21484	0.0121069975682	0.01151	0.247376948595	0.03496	T	0.006	0.06325	T	-0.588198	0.00172	T	-0.615348	0.11554	T	0.000968958407932315	0.00009	T	0.708829	0.33490	T	0.013086097	0.00049	0.027401539	0.00891	0.013086097	0.00049	0.027401539	0.00891	-1.688	0.02198	T	.	.	0.057	0.01786	B	.;.;.	.;.;.	0.228112	0.06097	2.541	0.45324561751544662	0.03549	0.29507	0.23840	N	AEBI	0.086867	0.17613	N	-1.06073496432736	0.07378	0.3425786	-0.86521962427999	0.12922	0.6675214	0.86253732062461	0.25254	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-1.63	0.07900	1.496000	0.35246	-0.285000	0.10238	-0.648000	0.04400	0.998000	0.41325	0.011000	0.20116	0.939000	0.47918	0.2688:0.0:0.7312:0.0	13.361	0.60095	604	0.67577	Pecanex, C-terminal;Pecanex, C-terminal;Pecanex, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	714.33	36	chr14	60125773	.	A	G	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.01;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.23;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1199	18	0	1	0
chr14	60149352	60149352	C	T	splicing	DHRS7	NM_016029:exon6:c.972+1G>A;NM_001322281:exon6:c.552+1G>A;NM_001322282:exon5:c.732+1G>A;NM_001322280:exon6:c.822+1G>A	.	.	.	423	1097	2	0	0	2	0.000910747	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000199681	0.0004	9.632e-05	8.684e-05	0	0	0.0004	0.0011	0.0007	0.0003169	49	154602	rs138163363	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0	0.0007	0.0003	0	0	0.0019	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.221e-05	0	0.0010	0.0003	0	0	0	0.0003	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212544	0.75069	D	0.447023	0.93507	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.513117	0.91703	32	0.9954963587375818	0.71023	0.98877	0.88048	D	AEFBI	0.895724	0.83605	D	1.21752790176546	0.99695	25.38	1.08132610086352	0.99673	25.08292	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.7	5.7	0.88690	7.830000	0.84907	4.805000	0.44998	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.825	0.96608	598	0.68232	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2068.33	39	chr14	60149352	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=856;ExcessHet=0;FS=3.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.49;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr14	60149357	60149357	C	T	exonic	DHRS7	.	nonsynonymous SNV	DHRS7:NM_001322282:exon5:c.G728A:p.G243D,DHRS7:NM_001322280:exon6:c.G818A:p.G273D,DHRS7:NM_001322281:exon6:c.G548A:p.G183D,DHRS7:NM_016029:exon6:c.G968A:p.G323D	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0227437576549	0.0006	0.000199681	0.0004	9.63e-05	8.679e-05	0	0	0.0004	0.0011	0.0007	0.0003234	50	154602	rs143781219	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0	0.0007	0.0003	0	0	0.0019	0.0002	0.0004	0.0005	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	7.22e-05	0	0.0010	0.0003	0	0	0	0.0003	0.0005	0.0006	0.059	0.37536	T	0.03	0.54159	D	0.994	0.66517	D	0.762	0.56524	P	.	.	.	.	0.999997	0.81001	D	2.835	0.82492	M	-1.83	0.84122	D	-2.65	0.56787	D	0.535	0.58202	-0.1893	0.77945	T	0.405	0.75543	T	9	0.11313254	0.21243	T	0.022744	0.45666	T	0.508	0.78848	.	.	0.994172143065	0.99411	0.18733541031747386	0.18651	0.0729669505024	0.08176	0.571070194244	0.48829	T	0.030935	0.21808	T	-0.157255	0.27185	T	-0.0841676	0.64598	T	0.0890367925167084	0.11102	T	0.90401	0.66351	D	0.1661669	0.36935	0.29843032	0.55876	0.1661669	0.36935	0.29843032	0.55875	-6.503	0.50310	T	.	.	0.271	0.50763	B	.;.;.	.;.;.	3.033760	0.40645	21.2	0.98856792684159978	0.47390	0.95760	0.66038	D	AEFBI	0.607343	0.59734	D	0.346038823759403	0.58530	4.025851	0.343857815068353	0.58138	3.982722	0.999999976889343	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	4.8	0.61157	4.046000	0.57088	-0.209000	0.10871	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.997000	0.79791	0.0:0.9251:0.0:0.0749	13.702	0.62095	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.02632	2088.33	39	chr14	60149357	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=860;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.26;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr14	60469597	60469597	T	C	exonic	C14orf39	.	nonsynonymous SNV	C14orf39:NM_174978:exon8:c.A611G:p.K204R	.	813	707	2	0	0	2	0.00141243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00299521	0.0011	0	0	0.0001	0	4.803e-05	0.0012	0.0078	0.0009185	142	154602	rs535593448	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.704e-05	0	0.0017	2.452e-05	0.0004	0.0060	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0093	0.277	0.15665	T	0.61	0.07691	T	.	.	.	.	.	.	0.303803	0.14551	N	0.639362	0.99998	0.18612	N	.	.	.	1.84	0.24656	T	-0.8	0.22078	N	0.147	0.14905	-1.0276	0.21233	T	0.058	0.24204	T	10	0.004374087	0.00089	T	.	.	.	0.026	0.05648	0.218	0.13932	0.0762999501168	0.06990	0.03250415823271137	0.03198	0.0859514511941	0.09713	.	.	.	.	.	.	-0.612222	0.00123	T	-0.648884	0.09033	T	0.0460502777079839	0.04793	T	0.428457	0.11587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	1.962774	0.24933	16.58	0.98279435026145434	0.39842	0.45258	0.27498	N	AEFBI	0.084526	0.17131	N	-0.312882700716832	0.28658	1.582536	-0.226818007944013	0.30580	1.722975	1.30623734306304E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	1.02	0.19102	1.340000	0.33501	0.291000	0.16873	0.603000	0.45986	0.986000	0.36153	0.978000	0.30204	0.979000	0.57723	0.0:0.3639:0.0:0.6361	7.649	0.27501	299	0.88026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	245.33	24	chr14	60469597	.	T	C	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.133;DP=629;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.492;SOR=0.85	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,724	18	0	1	0
chr14	60720114	60720114	T	C	exonic	SIX4	.	nonsynonymous SNV	SIX4:NM_017420:exon2:c.A1195G:p.N399D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0344919220176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38863	T	0.7	0.05727	T	0.167	0.28604	B	0.034	0.22909	B	0.000003	0.62929	D	0.103070	0.956789	0.26285	N	0.895	0.22405	L	-2.67	0.90332	D	-1.05	0.27463	N	0.251	0.28381	-0.5629	0.66293	T	0.431	0.77303	T	10	0.19917089	0.35916	T	0.034492	0.55709	D	0.155	0.40530	0.406	0.43902	0.797623749127	0.79574	0.260692471510415	0.25983	0.113881039405	0.12844	0.526856422424	0.42591	T	0.098235	0.40185	T	-0.073305	0.40798	T	-0.343074	0.39995	T	0.599980473518372	0.36399	D	0.806219	0.45479	T	0.21022877	0.43313	0.19486812	0.43133	0.21022877	0.43313	0.19486812	0.43132	-4.314	0.28373	T	.	.	0.093	0.13830	B	.;.	.;.	3.019054	0.40400	21.2	0.99440856239065412	0.64770	0.75863	0.37167	D	AEFGBI	0.150215	0.27446	N	-0.181914362196658	0.33887	1.927802	0.039216168503446	0.41555	2.498405	0.999999710241141	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.72	4.59	0.56297	4.377000	0.59330	6.183000	0.54660	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0713:0.0:0.9287	11.151	0.47685	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	33	chr14	60720114	.	T	C	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.084;DP=764;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.916;SOR=0.781	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1217	18	0	1	0
chr14	61776098	61776098	A	G	exonic	SNAPC1	.	nonsynonymous SNV	SNAPC1:NM_003082:exon5:c.A538G:p.M180V	.	447	1073	1	1	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0103847533233	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs538540322	0.0001	0.0001	3.908e-05	0.0002	0.0017	8.879e-05	8.354e-05	0.0015	0.0014	0	0	0	0	0	0.0006	2.728e-06	6.815e-05	0.0017	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.019	0.50132	D	0.041	0.50514	D	0.509	0.37289	P	0.131	0.32951	B	0.000016	0.62929	D	0.176508	1	0.81001	D	1.445	0.36358	L	.	.	.	-0.82	0.22508	N	0.359	0.40063	-0.8785	0.49880	T	0.137	0.45299	T	9	0.03183946	0.01325	T	0.010385	0.26850	T	0.116	0.32463	0.579	0.70476	0.181679512989	0.17746	0.40513284462502613	0.40429	0.0612871129364	0.06824	0.619510889053	0.55660	T	0.01004	0.09096	T	-0.288144	0.09824	T	-0.216754	0.53048	T	0.0887113923756241	0.11064	T	0.755524	0.37862	T	0.16485406	0.36720	0.1466446	0.34735	0.16485406	0.36720	0.1466446	0.34734	-2.299	0.04549	T	.	.	0.202	0.42664	B	.	.	3.176262	0.43098	21.7	0.98343378257101788	0.40467	0.90830	0.52340	D	AEFGBI	0.374639	0.45947	N	0.122241576224574	0.47503	2.975025	0.260006218083524	0.53220	3.492093	0.999999182033389	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	2.830000	0.47837	6.972000	0.57094	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.621000	0.31922	0.8558:0.1442:0.0:0.0	12.910	0.57571	740	0.53092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	35	chr14	61776098	.	A	G	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=757;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.897;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	62981022	62981022	T	G	exonic	KCNH5	.	nonsynonymous SNV	KCNH5:NM_139318:exon6:c.A792C:p.L264F,KCNH5:NM_172375:exon6:c.A792C:p.L264F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.230616686548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-3.83	0.95794	D	-3.76	0.71762	D	0.909	0.91162	0.936	0.96191	D	0.892	0.96405	D	10	0.85035807	0.84211	D	0.230617	0.88238	D	0.826	0.94466	0.53	0.63707	0.962012708856	0.96160	0.8899204648396157	0.88962	1.81287146463	0.91823	0.904261469841	0.96898	D	0.836588	0.96150	D	0.458045	0.92840	D	0.420173	0.92751	D	0.981292545795441	0.73830	D	0.956904	0.83579	D	0.5643139	0.70748	0.5506631	0.74019	0.5643139	0.70749	0.5506631	0.74019	-10.022	0.74734	D	0.20130546165976693	0.26741	0.963	0.88375	P	.;.;.	.;.;.	4.301538	0.65684	24.9	0.99892480874335121	0.96589	0.56902	0.30237	D	AEGHCI	0.286282	0.39870	N	0.550785993193486	0.70131	5.456528	0.530919323393235	0.70082	5.453042	0.99566326459136	0.34254	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	0.891000	0.27944	2.915000	0.35530	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1174:0.0:0.8826	8.341	0.31403	895	0.25842	Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	33.33	87	chr14	62981022	.	T	G	33.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.77;DP=1067;ExcessHet=0;FS=429.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.469;SOR=8.525	GT:AD:DP:GQ:PL	0/1:109,36:145:47:47,0,2655	18	0	1	0
chr14	63313059	63313059	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G262A:p.E88K	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00299521	0.0118	0.0029	0.0034	0	0.0104	0.0167	0.0019	0.0096	0.007335	1134	154602	rs140208070	0.0092	0.0092	0.0092	0.0092	0.0106	0.0090	0.0090	0.0104	0.0103	0.0014	0.0023	0.0010	0	0.0068	0.0064	0.0106	0.0079	0.0071	0.0064	0.0064	0.0067	0.0061	0.0107	0.0061	0.0059	0.0101	0.0098	0.0015	0	0.0045	0.0009	0	0.0059	0.0136	0.0107	0.0090	0.0052	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.52029	.	.	.	.	.	.	.	0.00864172	0.00196	T	.	.	.	.	.	.	.	0.208000267992	0.20380	0.7607400504344858	0.76022	.	.	0.629467666149	0.57069	T	0.644089	0.89120	D	-0.254147	0.13596	T	-0.127453	0.61186	T	.	.	.	0.89941	0.64770	D	0.32825628	0.55328	0.5613041	0.74616	0.32825628	0.55328	0.5613041	0.74617	-5.362	0.40552	T	.	.	0.113	0.22318	B	.;.	.;.	3.507455	0.49099	22.7	0.91543240544178084	0.20821	0.89906	0.50682	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.994200222936474	0.33533	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.964718	0.68002	5.85	5.85	0.93663	2.954000	0.48806	4.864000	0.45499	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.002717	0.011696	0.000000	0.008621	0.006135	0.007576	0.02632	2479.33	35	chr14	63313059	.	C	T	2479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=826;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.53;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1354	18	0	1	0
chr14	63313076	63313076	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G245A:p.R82Q	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00379393	0.0062	0.0005	0.0004	0.0002	0.0042	0.0036	0.0108	0.0251	0.0036093	558	154602	rs202152731	0.0030	0.0030	0.0024	0.0036	0.0212	0.0029	0.0029	0.0204	0.0200	0.0002	0.0003	7.708e-05	0	0.0012	0.0073	0.0020	0.0033	0.0212	0.0022	0.0022	0.0017	0.0026	0.0193	0.0020	0.0019	0.0162	0.0150	9.637e-05	0	0.0005	0.0003	0	0.0021	0.0034	0.0029	0.0009	0.0193	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.41261	.	.	.	.	.	.	.	0.008682966	0.00197	T	.	.	.	.	.	.	.	0.246215685461	0.24236	0.6783049580709183	0.67769	.	.	0.426724642515	0.28760	T	0.403791	0.76044	T	-0.294854	0.09153	T	-0.180718	0.56457	T	.	.	.	0.934107	0.75346	D	0.2452297	0.47479	0.48068875	0.69926	0.2452297	0.47479	0.48068875	0.69926	-4.988	0.36709	T	.	.	0.086	0.10835	B	.;.	.;.	3.807114	0.54888	23.5	0.91516162854793026	0.20791	0.95391	0.64536	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999913513	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.983985	0.90998	5.85	5.85	0.93663	4.416000	0.59567	1.106000	0.24114	0.599000	0.40250	0.998000	0.41325	0.668000	0.26052	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.015152	0.02632	2592.33	35	chr14	63313076	.	C	T	2592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=831;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.611;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1354	18	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	358.89	33	chr14	63599584	.	C	T	358.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.633;DP=1443;ExcessHet=0.3672;FS=10.016;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=59.15;MQRankSum=-10.98;QD=0.62;ReadPosRankSum=-2.535;SOR=2.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,106,1800:.	16	0	3	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	449.76	33	chr14	63599585	.	T	G	449.76	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.539;DP=1456;ExcessHet=0.7564;FS=10.068;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=59.14;MQRankSum=-10.98;QD=0.6;ReadPosRankSum=-2.477;SOR=2.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,106,1800:.	15	0	4	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	387.89	47	chr14	63599753	.	G	A	387.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.09;DP=1457;ExcessHet=0.3672;FS=9.948;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=58.89;MQRankSum=-10.84;QD=0.64;ReadPosRankSum=-1.223;SOR=2.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,114,1710:.	16	0	3	0
chr14	63941927	63941927	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon5:c.A280G:p.I94V,SYNE2:NM_182914:exon5:c.A280G:p.I94V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1512	9	1	0	11	0.00362438	.	.	.	336254	SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.473	0.152464930658	0.0003	0.000399361	0.0008	0.0001	0.0008	0.0002	0.0002	0.0008	0.0022	0.0016	0.0008215	127	154602	rs146748294	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0020	0.0017	8.963e-05	0.0007	0	2.522e-05	1.899e-05	0.0031	0.0008	0.0009	0.0016	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0007	0	0	0	0	0.0009	0.0047	0.0010	0.043	0.44029	D	0.032	0.53426	D	0.938	0.53885	P	0.831	0.63489	P	0.000027	0.55875	D	0.000000	0.989082	0.81001	D	-0.28	0.03718	N	-3.42	0.94348	D	-0.78	0.25770	N	0.306	0.34552	0.745	0.93732	D	0.773	0.92286	D	10	0.03389311	0.01579	T	0.152465	0.83387	D	0.473	0.76619	.	.	0.806011653667	0.80420	0.17203194891012316	0.17123	0.299232278164	0.32289	0.511077523232	0.40374	T	0.022874	0.76825	T	-0.174135	0.24612	T	-0.0475374	0.67192	D	0.0450195441899002	0.04606	T	0.868613	0.57103	D	0.1305061	0.30450	0.12122524	0.29251	0.11656406	0.27491	0.10324838	0.24767	-6.414	0.49736	T	.	.	0.106	0.19720	B	.;.;.;.;.	.;.;.;.;.	3.028303	0.40554	21.2	0.99551128572438252	0.71148	0.91971	0.54660	D	AEFBI	0.466247	0.51397	N	0.260400994215105	0.54157	3.581849	0.346427734522569	0.58295	3.999006	0.999985854805388	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	5.37	5.37	0.76949	4.647000	0.61115	7.070000	0.57437	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.682	0.77133	654	0.62520	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1896.33	33	chr14	63941927	.	A	G	1896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.402;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	63991060	63991060	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon21:c.C2591T:p.A864V,SYNE2:NM_182914:exon21:c.C2591T:p.A864V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1989694	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_specified	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.029585485916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007865427	2.189e-05	2.189e-05	2.586e-05	1.788e-05	0.0012	1.584e-05	1.356e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	1.799e-05	4.968e-05	1.159e-05	3.286e-05	3.284e-05	5.14e-05	1.345e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0.0032	2.94e-05	0.0005	0	0.002	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000084	0.51296	D	0.000000	0.869525	0.81001	D	1.975	0.53506	M	0.3	0.62918	T	-2.95	0.62976	D	0.252	0.49328	-0.4202	0.71386	T	0.383	0.73951	T	10	0.29099882	0.46679	T	0.029585	0.52069	D	0.281	0.59861	0.493	0.58048	0.616972202741	0.61387	0.3664109266217865	0.36555	0.324672297079	0.34622	0.464220046997	0.33889	T	0.143058	0.78644	T	-0.107011	0.35262	T	-0.209962	0.53700	T	0.394676598073557	0.28742	T	0.822018	0.48145	T	0.32076213	0.54704	0.30596173	0.56622	0.32076213	0.54704	0.30596173	0.56621	-4.38	0.29285	T	.	.	0.207	0.43297	B	.;.;.;.	.;.;.;.	2.605690	0.33832	19.46	0.93237411529437686	0.22921	0.89737	0.50396	D	AEFGBI	0.305057	0.41258	N	0.565615471085482	0.71036	5.59053	0.54312424887088	0.70920	5.576793	0.999992321678495	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	3.363000	0.52044	5.815000	0.50038	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.448000	0.27851	0.0:1.0:0.0:0.0	16.121	0.81166	686	0.59327	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001362	0.002941	0.000000	0.008621	0.000000	0.003788	0.02632	615.33	61	chr14	63991060	.	C	T	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.202;SOR=0.76	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr14	64097961	64097961	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon62:c.C12121T:p.R4041C,SYNE2:NM_182914:exon62:c.C12121T:p.R4041C	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	464276	not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|SYNE2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0478583551233	0.0003	0.00139776	0.0002	0.0005	0	0.0015	0	4.496e-05	0	0	0.0002458	38	154602	rs146197259	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	0.0003	6.708e-05	0	0.0010	0	0	0.0001	0.0008	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0.0005	0	0.0001	0	0.0033	0	0	5.88e-05	0.0005	0	0.04	0.51853	D	0.038	0.51737	D	0.688	0.47240	P	0.191	0.41118	B	0.043776	0.01924	N	2.023780	1	0.08975	N	0.69	0.16971	N	0.62	0.59449	T	-3.3	0.66206	D	0.18	0.21839	-0.9500	0.40972	T	0.125	0.42924	T	10	0.00389117	0.00074	T	0.047858	0.63111	D	0.055	0.15663	.	.	0.504727117792	0.50111	0.2137849679959782	0.21294	0.156141096225	0.17626	0.212886750698	0.00940	T	0.060351	0.61125	T	-0.464605	0.00919	T	-0.446625	0.28069	T	0.0318192232724402	0.02277	T	0.164384	0.01504	T	0.07918892	0.18076	0.08381273	0.19236	0.05926372	0.12023	0.07131894	0.15257	-5.541	0.42755	T	.	.	0.106	0.19720	B	.;.;.;.;.	.;.;.;.;.	0.917923	0.12926	9.435	0.96553031401699685	0.30233	0.02149	0.06322	N	AEFGBI	0.057576	0.10738	N	-0.878777047709733	0.11348	0.5471816	-0.961149726192465	0.10666	0.5386069	0.260945560600597	0.18788	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.78	-1.65	0.07849	0.066000	0.14358	0.514000	0.19106	-0.870000	0.02561	0.000000	0.06391	0.001000	0.17328	0.565000	0.30531	0.4204:0.2633:0.3163:0.0	5.886	0.18127	614	0.66605	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	776.33	34	chr14	64097961	.	C	T	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.836;DP=714;ExcessHet=0;FS=1.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.121;SOR=0.882	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,22:96:99:0|1:64158707_T_C:177,0,2293:64158707	2	0	15	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.87	42	chr14	64158708	.	G	A	1526.87	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:74,0:96:99:0|1:64158707_T_C:177,397,2752:64158707	15	0	3	1
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1526.87	42	chr14	64158708	.	G	C	1526.87	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,22:96:99:0|1:64158707_T_C:177,0,2293:64158707	14	0	4	1
chr14	64186428	64186428	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon97:c.T17561C:p.L5854P,SYNE2:NM_182914:exon97:c.T17561C:p.L5854P	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	.	196406	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided|not_specified	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.350	.	0.0044	0.00219649	0.0057	0.0011	0.0009	0	0.0129	0.0080	0.0044	0.0031	0.0054721	846	154602	rs117070973	0.0065	0.0065	0.0067	0.0064	0.0075	0.0064	0.0064	0.0074	0.0073	0.0010	0.0018	0.0007	0	0.0098	0.0028	0.0075	0.0049	0.0027	0.0051	0.0051	0.0048	0.0053	0.0082	0.0048	0.0046	0.0076	0.0074	0.0011	0	0.0034	0.0012	0	0.0092	0	0.0082	0.0024	0.0017	0.0	0.91255	D	0.003	0.76473	D	0.991	0.64070	D	0.861	0.61279	P	0.001261	0.39669	N	0.000000	1	0.81001	D	2.965	0.85198	M	0.84	0.47477	T	-6.33	0.90895	D	0.85	0.84609	-0.5048	0.68475	T	0.233	0.59916	T	10	0.008620858	0.00195	T	.	.	.	0.350	0.67142	.	.	0.625221479056	0.62217	0.702526500083604	0.70193	0.386515749672	0.39939	0.552365660667	0.46192	T	0.604302	0.87364	D	-0.150953	0.28163	T	0.0214212	0.71722	D	0.0338813253481984	0.02618	T	0.844715	0.52235	T	0.90783966	0.92094	0.9213887	0.96495	0.8991249	0.91306	0.91115355	0.95771	-13.973	0.93552	D	.	.	0.594	0.68636	P	.;.;.	.;.;.	3.649982	0.51800	23.1	0.99915261143971068	0.98379	0.96591	0.69909	D	AEFDGBHIJ	0.707980	0.66254	D	0.62731938729805	0.74908	6.213424	0.597489091062645	0.74757	6.192032	0.999999999380523	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.52208	0.10781	0	0.655142	0.61905	0	.	.	5.73	5.73	0.89730	4.393000	0.59427	6.135000	0.53971	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.0:1.0	16.001	0.80089	574	0.70151	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1426.33	36	chr14	64186428	.	T	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.33;DP=760;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.602;SOR=0.904	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	64225336	64225336	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon9:c.G1100A:p.R367Q,SYNE2:NM_182913:exon11:c.G1481A:p.R494Q,SYNE2:NM_015180:exon115:c.G20468A:p.R6823Q,SYNE2:NM_182914:exon116:c.G20534A:p.R6845Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	3030529	not_specified|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00927085199272	.	.	2.493e-05	0	0	0	0	4.543e-05	0	0	1.94e-05	3	154602	rs777915067	2.463e-05	2.463e-05	2.723e-05	2.2e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	2.987e-05	0	0	0	0	0	3.147e-05	0	0	2.63e-05	2.627e-05	2.571e-05	2.691e-05	4.83e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.263	0.17701	T	0.858	0.24621	T	0.083	0.26290	B	0.02	0.19048	B	0.622645	0.05765	N	1.273790	0.998194	0.22395	N	0.425	0.12573	N	0.67	0.52187	T	-1.95	0.47852	N	0.057	0.10198	-1.0295	0.20616	T	0.068	0.28013	T	10	0.05176598	0.05109	T	0.009271	0.24343	T	0.035	0.08770	0.24	0.17218	0.166414681773	0.16258	0.2689681058159678	0.26809	0.056727989804	0.06270	0.20873901248	0.00759	T	0.104338	0.41381	T	-0.281313	0.10528	T	-0.531805	0.19107	T	0.0814316720473113	0.10170	T	0.756224	0.37950	T	0.032103226	0.03173	0.03349358	0.02253	0.032103226	0.03173	0.03349358	0.02252	-4.822	0.39114	T	.	.	0.084	0.11941	B	.;.;.;.;.	.;.;.;.;.	1.115169	0.15006	11.51	0.89675701245418127	0.19003	0.01656	0.05313	N	AEFGBI	0.032122	0.03569	N	-0.972412684014414	0.09196	0.4342419	-0.931797034660495	0.11345	0.5774434	0.936704231669093	0.27266	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.99	1.41	0.21461	0.250000	0.18007	-0.151000	0.11419	0.676000	0.76740	0.025000	0.20085	0.000000	0.08366	0.057000	0.15750	0.4843:0.0:0.5157:0.0	7.021	0.24095	649	0.63102	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	40	chr14	64225336	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=777;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.997;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	18	0	1	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.05263	1658.83	35	chr14	64468430	.	C	G	1658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.438;DP=724;ExcessHet=0.119;FS=0.663;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.74;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	17	0	2	0
chr14	64487350	64487350	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G881A:p.C294Y,ZBTB25:NM_006977:exon3:c.G881A:p.C294Y,ZBTB25:NM_001354682:exon4:c.G998A:p.C333Y,ZBTB25:NM_001354684:exon4:c.G881A:p.C294Y,ZBTB25:NM_001354687:exon4:c.G881A:p.C294Y,ZBTB25:NM_001354685:exon5:c.G881A:p.C294Y,ZBTB25:NM_001304507:exon6:c.G881A:p.C294Y,ZBTB25:NM_001354686:exon6:c.G881A:p.C294Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	2356791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0056944585061	7.7e-05	.	0.0001	0	8.657e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs374600794	6.567e-05	6.567e-05	6.262e-05	6.876e-05	0.0005	5.495e-05	5.107e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	6.385e-05	8.279e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0007	7.573e-05	6.279e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	8.82e-05	0.0005	0	0.095	0.31235	T	0.167	0.30729	T	0.042	0.21471	B	0.037	0.23121	B	0.007562	0.31319	N	0.374639	0.994	0.81001	D	0.695	0.17993	N	1.61	0.28391	T	-1.25	0.31576	N	0.35	0.55886	-1.0908	0.05400	T	0.067	0.27468	T	10	0.078775644	0.12596	T	0.005694	0.14742	T	0.185	0.45933	.	.	0.357724736475	0.35387	0.40884105370116797	0.40800	0.269474927048	0.29467	0.486367613077	0.36935	T	0.149096	0.48795	T	-0.244178	0.14820	T	-0.333476	0.41082	T	0.0393709194902363	0.03577	T	0.733627	0.34942	T	0.11307704	0.26709	0.13780625	0.32929	0.11307704	0.26709	0.13780625	0.32928	-3.595	0.17785	T	.	.	0.073	0.04517	B	.;.	.;.	2.910845	0.38609	20.8	0.96735409789671212	0.30902	0.93131	0.57407	D	AEFGBI	.	.	.	-0.121541141850825	0.36456	2.107444	0.0560985653186133	0.42367	2.561358	0.999999999958445	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.587000	0.53705	5.999000	0.52457	0.599000	0.40250	0.346000	0.25726	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	20.490	0.99205	372	0.84213	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.010101	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	5033.81	33	chr14	64487350	.	C	T	5033.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.12;SOR=1.164	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	1	0	0
chr14	64550067	64550067	-	T	splicing	PPP1R36	NM_172365:exon1:c.69+1->T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0017	0.00011	17	154602	rs759252957	0.0001	0.0001	6.597e-05	0.0002	0.0020	0.0001	9.775e-05	0.0017	0.0016	3.121e-05	0	0	0	0	0.0002	0	0.0001	0.0020	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	979.29	39	chr14	64550067	.	G	GT	979.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.551;SOR=0.708	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr14	64738832	64738832	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1495A:p.E499K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00773368103808	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs777074328	4.248e-05	4.378e-05	4.558e-05	3.932e-05	0.0002	3.37e-05	3.055e-05	4.056e-05	3.704e-05	0	7.173e-05	0	0	0	0.0002	5.191e-05	0	0	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.088	0.32296	T	0.512	0.39954	T	0.977	0.90584	D	0.496	0.82059	P	0.286532	0.14847	N	0.649312	0.984598	0.27670	N	2.32	0.66415	M	1.38	0.34050	T	-2.47	0.53898	N	0.271	0.42639	-0.9488	0.41177	T	0.173	0.51579	T	10	0.19002154	0.34627	T	0.007734	0.20510	T	0.045	0.12272	.	.	0.440288351245	0.43647	0.33074584776457416	0.32987	0.191677269743	0.21502	0.501892209053	0.39091	T	0.030348	0.40037	T	-0.125513	0.32225	T	-0.418067	0.31296	T	0.72250908613205	0.41826	D	0.891311	0.62583	D	0.12844038	0.30028	0.1320263	0.31691	0.12844038	0.30028	0.1320263	0.31690	-6.009	0.53277	T	.	.	0.128	0.40032	B	.;.;.;.;.	.;.;.;.;.	3.889255	0.56581	23.8	0.99903389626740813	0.97502	0.78318	0.38621	D	AEFDGBCI	0.304811	0.41240	N	0.382909452692601	0.60494	4.239105	0.366668962981346	0.59519	4.130342	0.999338278862659	0.39185	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	3.4	0.38031	3.218000	0.50894	5.814000	0.50030	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.974000	0.55675	0.0782:0.1376:0.7842:0.0	10.025	0.41238	404	0.82510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	35	chr14	64738832	.	G	A	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.52;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1175	18	0	1	0
chr14	64741163	64741163	A	G	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon16:c.A1646G:p.Q549R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.029206481235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.218	0.38891	T	0.191	0.29411	B	0.075	0.29395	B	0.189636	0.16881	N	0.568738	0.999978	0.18612	N	2.44	0.70756	M	1.39	0.33842	T	-1.56	0.37759	N	0.078	0.05287	-1.0099	0.26949	T	0.097	0.36341	T	10	0.12687853	0.24123	T	0.029206	0.51759	D	0.035	0.08770	0.232	0.16005	0.275641507738	0.27180	0.09246894349422317	0.09178	0.149573838096	0.16864	0.298473656178	0.10174	T	0.012129	0.22475	T	-0.195957	0.21389	T	-0.519255	0.20370	T	0.25838041305542	0.23244	T	0.586341	0.21576	T	0.09345937	0.21950	0.116837904	0.28206	0.09345937	0.21950	0.116837904	0.28205	-3.4	0.15259	T	.	.	0.063	0.04723	B	.;.;.;.;.	.;.;.;.;.	0.898232	0.12718	9.241	0.974221759870318	0.33880	0.68646	0.33881	D	AEFDGBI	0.101688	0.20418	N	-0.375956416506255	0.26328	1.436076	-0.352903583814075	0.26419	1.459149	0.999878317961822	0.44625	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	4.32	0.50899	1.361000	0.33740	0.336000	0.17333	0.740000	0.86194	0.772000	0.29380	0.001000	0.17328	0.090000	0.17789	0.839:0.161:0.0:0.0	10.605	0.44582	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	38	chr14	64741163	.	A	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.727;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.939;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1322	18	0	1	0
chr14	64741976	64741976	G	A	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon16:c.G2459A:p.G820E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00827492733471	.	.	8.962e-06	0	0	0	0	1.577e-05	0	0	6.5e-06	1	154602	rs774028522	9.837e-06	1.026e-05	1.113e-05	8.516e-06	1.279e-05	5.71e-06	4.47e-06	7.42e-06	5.81e-06	0	0	0	0	0	0	1.279e-05	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.374	0.18395	T	0.105	0.58535	B	0.068	0.55268	B	0.009280	0.30438	N	0.285126	0.999954	0.19486	N	1.3	0.32576	L	1.69	0.27184	T	-0.95	0.25332	N	0.164	0.17278	-0.9243	0.44957	T	0.133	0.44603	T	10	0.040209442	0.02571	T	0.008275	0.21903	T	0.093	0.26882	0.135	0.03920	0.410071178582	0.40619	0.17490095114607093	0.17409	0.183954302833	0.20688	0.300851225853	0.10528	T	0.005582	0.19734	T	-0.247818	0.14367	T	-0.510885	0.21224	T	0.308999359607697	0.25373	T	0.752425	0.37456	T	0.046343297	0.07740	0.055646274	0.09800	0.046343297	0.07740	0.055646274	0.09800	-6.131	0.51183	T	.	.	0.103	0.20038	B	.;.;.;.	.;.;.;.	0.788554	0.11589	8.180	0.61554415210685276	0.06738	0.04136	0.09618	N	AEFDBI	0.039619	0.05780	N	-0.565108893289034	0.20013	1.051844	-0.592305331467868	0.19692	1.05772	0.836303828693707	0.24785	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.97	3.14	0.35196	0.866000	0.27608	2.916000	0.35536	0.676000	0.76740	0.396000	0.26137	0.999000	0.35428	0.690000	0.33838	0.2124:0.1385:0.5061:0.143	2.100	0.03455	407	0.82314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	38	chr14	64741976	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.137;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.726;SOR=0.687	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr14	64793547	64793547	G	A	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon13:c.C2116T:p.R706C,SPTB:NM_001355436:exon14:c.C2116T:p.R706C,SPTB:NM_001355437:exon14:c.C2116T:p.R706C	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	336572	not_provided|Inborn_genetic_diseases|Elliptocytosis|Spherocytosis,_Dominant	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN239455	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0251433106747	0.0002	0.000399361	4.956e-05	0.0002	0.0002	0	0	3.006e-05	0	0	5.17e-05	8	154602	rs184962510	7.046e-05	7.046e-05	7.215e-05	6.875e-05	0.0004	5.913e-05	5.522e-05	0.0003	0.0002	0.0004	0.0003	0	2.519e-05	0	0.0003	5.306e-05	0.0001	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.146e-05	7.702e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0.0034	2.94e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.921	0.51088	P	0.717	0.54739	P	0.111829	0.19383	N	0.550007	1	0.08975	N	1.625	0.41611	L	0.69	0.51714	T	-3.48	0.67941	D	0.374	0.41557	-0.9327	0.43740	T	0.137	0.45356	T	10	0.061317533	0.07668	T	0.025143	0.48119	D	0.196	0.47777	.	.	0.449242652821	0.44546	0.21736137450127166	0.21652	0.716288316527	0.61984	0.26318320632	0.05275	T	0.491056	0.81559	T	-0.297867	0.08862	T	-0.349486	0.39265	T	0.118402235913381	0.14273	T	0.865513	0.56452	D	0.19669063	0.41507	0.1626917	0.37779	0.19669063	0.41507	0.1626917	0.37778	-4.945	0.36775	T	0.3678586665343047	0.46368	0.099	0.19760	B	.;.;.;.;.	.;.;.;.;.	4.384594	0.67615	25.1	0.99900586090006838	0.97275	0.20108	0.20918	N	AEFGBI	0.535585	0.55415	D	0.107569261923633	0.46816	2.916225	0.0195697727500743	0.40625	2.427421	0.99794366224162	0.36224	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	2.825000	0.47797	8.713000	0.78141	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.324000	0.25064	0.0:0.167:0.833:0.0	12.649	0.56113	467	0.78285	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2186.33	43	chr14	64793547	.	G	A	2186.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=933;ExcessHet=0;FS=0.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.668;SOR=0.758	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr14	65084272	65084272	T	C	exonic	MAX	.	nonsynonymous SNV	MAX:NM_001271068:exon3:c.A172G:p.T58A,MAX:NM_145114:exon4:c.A199G:p.T67A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0218959650397	.	.	0.0001	0	0.0002	0	0	2.999e-05	0.0022	0.0004	8.41e-05	13	154602	rs141542259	4.939e-05	4.925e-05	2.731e-05	7.168e-05	0.0007	4.004e-05	3.68e-05	0.0006	0.0005	0	0	0	0	0	0	7.219e-06	3.318e-05	0.0007	1.977e-05	1.972e-05	0	4.049e-05	0.0004	5.26e-06	2.46e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.266	0.16251	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950257	0.37687	D	.	.	.	-3.84	0.95826	D	0.81	0.01839	N	0.029	0.00666	-0.2704	0.75801	T	0.661	0.88212	D	8	0.034693718	0.01687	T	0.021896	0.44729	T	0.211	0.50185	0.503	0.59615	0.390292564088	0.38643	.	.	.	.	.	.	.	.	.	.	-0.364463	0.03884	T	-0.378085	0.35945	T	0.0149758049805285	0.00320	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	-3.673	0.18920	T	.	.	0.065	0.01960	B	.	.	0.338837	0.07123	3.703	0.81584564596339337	0.13758	0.00086	0.00577	N	AEFBI	0.016817	0.00402	N	-0.97472057563725	0.09146	0.4316578	-0.993028853536206	0.09941	0.4976008	0.999617574738714	0.40981	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.63	1.78	0.23918	0.043000	0.13855	0.084000	0.14428	-0.201000	0.08892	0.003000	0.16062	0.031000	0.21272	0.011000	0.09372	0.0:0.737:0.0:0.263	5.551	0.16380	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1454.33	36	chr14	65084272	.	T	C	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=801;ExcessHet=0;FS=4.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.23;SOR=1.137	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1301	18	0	1	0
chr14	66681133	66681133	G	A	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.G91A:p.A31T,GPHN:NM_001377514:exon2:c.G91A:p.A31T,GPHN:NM_001377515:exon2:c.G91A:p.A31T,GPHN:NM_001377516:exon2:c.G91A:p.A31T,GPHN:NM_001377517:exon2:c.G91A:p.A31T,GPHN:NM_001377518:exon2:c.G91A:p.A31T,GPHN:NM_001377519:exon2:c.G91A:p.A31T,GPHN:NM_020806:exon2:c.G91A:p.A31T	Molybdenum cofactor deficiency C	.	.	.	.	.	.	.	.	.	.	1923337	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C	MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.442	0.0801480110863	0.0002	.	1.662e-05	0	0	0	0	3.024e-05	0	0	1.29e-05	2	154602	rs371802458	2.076e-06	4.789e-06	1.379e-06	2.777e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.104e-07	1.671e-05	0	6.584e-06	6.572e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.229	0.45756	T	0.271	0.37449	T	0.008	0.77913	B	0.008	0.74454	B	0.000000	0.84330	D	0.000000	0.998062	0.58761	D	1.885	0.50048	L	-0.97	0.75670	T	-1.43	0.40660	N	0.827	0.84609	-0.1216	0.79597	T	0.485	0.80370	T	10	0.6661265	0.70437	D	0.080148	0.73396	D	0.442	0.74518	.	.	0.682575271622	0.67986	0.6769045127211721	0.67629	1.6211804712	0.89064	0.82438993454	0.85702	D	0.538259	0.84143	D	0.0743106	0.61368	D	-0.0233774	0.68806	D	0.845218181610107	0.49758	D	0.978852	0.93127	D	0.38291305	0.59527	0.25203672	0.50825	0.38291305	0.59527	0.25203672	0.50824	-7.569	0.58241	D	0.18596865704844293	0.24185	0.433	0.74977	A	.;.;.;.	.;.;.;.	5.419018	0.90675	31	0.99508993373793497	0.68499	0.96088	0.67478	D	AEFBI	0.868415	0.78853	D	0.185999545241518	0.50527	3.241838	0.259226121432469	0.53176	3.487853	0.215811743288137	0.18296	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.11	4.22	0.49153	9.213000	0.94240	11.667000	0.94056	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0901:0.0:0.9098:0.0	11.291	0.48487	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	284.33	14	chr14	66681133	.	G	A	284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.739;DP=574;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-2.328;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	18	0	1	0
chr14	66879975	66879975	A	T	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon5:c.A331T:p.M111L,GPHN:NM_001377515:exon5:c.A331T:p.M111L,GPHN:NM_001377516:exon5:c.A331T:p.M111L,GPHN:NM_001377517:exon5:c.A331T:p.M111L,GPHN:NM_001377518:exon5:c.A331T:p.M111L,GPHN:NM_020806:exon5:c.A331T:p.M111L,GPHN:NM_001377514:exon6:c.A370T:p.M124L,GPHN:NM_001377519:exon6:c.A370T:p.M124L	Molybdenum cofactor deficiency C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.0193921537179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12109	T	1.0	0.31125	T	0.282	0.41647	B	0.697	0.58564	P	0.000000	0.84330	D	0.000000	0.99999	0.81001	D	-0.83	0.01527	N	-0.94	0.75325	T	-0.18	0.18877	N	0.645	0.65930	-0.6272	0.63689	T	0.249	0.61889	T	10	0.3726886	0.53597	T	0.019392	0.41739	T	0.512	0.79094	0.467	0.53891	0.793116883269	0.79119	0.9506805273413836	0.95052	0.67202664392	0.59506	0.807881474495	0.83166	D	0.333793	0.70360	T	0.191044	0.73059	D	0.0366445	0.72710	D	0.925168693065643	0.58673	D	0.993001	0.98400	D	0.71572	0.78924	0.31606358	0.57589	0.71572	0.78925	0.31606358	0.57588	-4.89	0.35622	T	0.07248696154483103	0.02975	0.514	0.82540	A	.;.;.;.;.	.;.;.;.;.	4.753840	0.76787	26.6	0.93902057702265229	0.23931	0.98813	0.87189	D	AEFGI	0.927560	0.91040	D	0.0246471266932842	0.42978	2.599852	0.217644940833135	0.50825	3.270703	0.999981175865378	0.51787	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.93	4.93	0.64394	9.142000	0.93794	11.043000	0.85201	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.862	0.70025	0	0.99858	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1536.33	34	chr14	66879975	.	A	T	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.828;DP=728;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.69;SOR=0.494	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1158	18	0	1	0
chr14	67302051	67302051	G	A	exonic	MPP5	.	nonsynonymous SNV	MPP5:NM_001256550:exon6:c.G632A:p.S211N,MPP5:NM_022474:exon6:c.G734A:p.S245N	.	.	.	.	.	.	.	.	.	.	.	3367833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00211764164908	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0010	0.0001229	19	154602	rs764531201	7.754e-05	8.072e-05	4.37e-05	0.0001	0.0013	6.553e-05	6.154e-05	0.0011	0.0010	0	0	0	0	0	0	9.01e-07	0	0.0013	3.941e-05	3.937e-05	0	8.06e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.528	0.08458	T	0.576	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	D	0.095855	0.96357	0.43655	D	-0.55	0.02420	N	3.07	0.08547	T	0.51	0.02898	N	0.107	0.14338	-0.9154	0.46168	T	0.012	0.04558	T	10	0.015995532	0.00336	T	0.002118	0.03935	T	0.108	0.30607	0.346	0.34112	0.15499578495	0.15088	0.2682006460653276	0.26733	0.300977631281	0.32447	0.598168969154	0.52646	T	0.033555	0.22959	T	-0.653273	0.00069	T	-0.773152	0.02666	T	0.049973333672007	0.05495	T	0.771423	0.40183	T	0.13307056	0.30963	0.088431865	0.20618	0.13307056	0.30963	0.088431865	0.20617	-2.917	0.10300	T	.	.	0.063	0.02894	B	.;.	.;.	2.759120	0.36189	20.2	0.83751950055979885	0.14900	0.78790	0.38927	D	AEFGBI	0.105644	0.21104	N	-0.214721970545302	0.32528	1.835489	0.0254972391746426	0.40901	2.448527	0.448381956679869	0.20518	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	2.135000	0.41735	8.551000	0.77529	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.998000	0.85391	0.2046:0.0:0.7954:0.0	7.218	0.25148	342	0.85871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1027.33	33	chr14	67302051	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.251;DP=711;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.497;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	18	0	1	0
chr14	67587182	67587182	C	T	exonic	PLEKHH1	.	stopgain	PLEKHH1:NM_020715:exon29:c.C4042T:p.R1348X	.	430	1052	37	3	0	43	0.0200279	.	.	.	702955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0086	0.00359425	0.0076	0.0013	0.0048	0.0001	0.0024	0.0115	0.0100	0.0033	0.0074255	1148	154602	rs111462449	0.0081	0.0081	0.0083	0.0080	0.0248	0.0080	0.0079	0.0215	0.0202	0.0012	0.0053	0.0403	2.519e-05	0.0019	0.0248	0.0085	0.0090	0.0034	0.0061	0.0061	0.0063	0.0058	0.0084	0.0058	0.0056	0.0079	0.0076	0.0013	0	0.0057	0.0423	0.0006	0.0020	0.0136	0.0084	0.0109	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.062110	0.22121	N	0.477844	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210287	0.74857	D	0.536677	0.95345	D	0.0940689564391577	0.11692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.533679	0.96614	36	0.99597489037825016	0.73983	0.24847	0.22519	N	AEFGBI	0.615946	0.60269	D	0.519486289193855	0.68242	5.190	0.270601044546819	0.53831	3.550164	0.660484157857556	0.22265	0.706548	0.73137	0	0.550933	0.16991	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.07	3.11	0.34883	0.294000	0.18803	0.424000	0.18252	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.586000	0.31041	0.2081:0.7072:0.0:0.0846	8.376	0.31604	274	0.89249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019134	0.015152	0.019022	0.023392	0.050000	0.060345	0.024390	0.007576	0.05263	5190.83	34	chr14	67587182	.	C	T	5190.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=2729;ExcessHet=0.119;FS=1.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.842;SOR=0.862	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	17	0	2	0
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05263	2296.83	33	chr14	67783430	.	C	T	2296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=818;ExcessHet=0.119;FS=0.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.28;SOR=0.755	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1207	17	0	2	0
chr14	67786228	67786228	G	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon17:c.C3025T:p.R1009W	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	25	1494	3	0	0	3	0.00100301	.	.	.	528706	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0791967704423	.	0.000199681	0.0003	0	0	0	0.0002	3.012e-05	0	0.0018	0.0002135	33	154602	rs374605354	0.0001	0.0001	7.693e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0.0002	0.0002	2.814e-05	0.0002	0.0018	6.506e-05	7.781e-05	6.028e-05	7.066e-05	0.0013	3.192e-05	2.316e-05	0.0005	0.0003	2.953e-05	0	0	0	0	0.0002	0	1.603e-05	0	0.0013	0.003	0.68238	D	0.001	0.83351	D	0.999	0.77913	D	0.736	0.55529	P	0.000136	0.49741	D	0.123358	0.859153	0.35356	D	.	.	.	1.56	0.33412	T	-2.16	0.48850	N	0.534	0.56231	-0.7397	0.58468	T	0.124	0.42778	T	10	0.026570886	0.00820	T	0.079197	0.73180	D	0.203	0.48915	0.44	0.49484	0.481988042695	0.47829	0.2936936814610451	0.29282	0.628620718257	0.56926	0.332092016935	0.15250	T	0.068286	0.33418	T	-0.403757	0.02187	T	-0.360009	0.38051	T	0.234925690915552	0.22184	T	0.839616	0.51418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23640	B	.;.	.;.	4.634044	0.73709	26.0	0.99901032253799427	0.97275	0.73501	0.35953	D	AEFBI	0.332108	0.43162	N	-0.0122235161368606	0.41303	2.468024	-0.0836181258160947	0.36067	2.094275	0.0942507979259354	0.16201	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.44	2.16	0.26663	2.225000	0.42597	3.465000	0.38541	-0.154000	0.11915	0.087000	0.22510	0.559000	0.25510	0.987000	0.62547	0.0:0.0:0.4432:0.5568	14.319	0.66027	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	39	chr14	67786228	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=859;ExcessHet=0;FS=1.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=0.6;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	18	0	1	0
chr14	67789467	67789467	C	G	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon16:c.G2887C:p.V963L	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1486	36	0	0	36	0.0119681	.	.	.	186194	not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	0.0068	0.00579073	0.0076	0.0023	0.0087	0	0.0023	0.0102	0.0067	0.0063	0.0074643	1154	154602	rs116890187	0.0076	0.0076	0.0075	0.0076	0.0101	0.0074	0.0074	0.0080	0.0076	0.0014	0.0085	0.0312	0	0.0030	0.0101	0.0077	0.0088	0.0059	0.0061	0.0061	0.0063	0.0060	0.0082	0.0058	0.0057	0.0075	0.0073	0.0015	0.0077	0.0082	0.0288	0.0002	0.0035	0.0170	0.0081	0.0062	0.0070	0.249	0.17239	T	0.154	0.32040	T	0.323	0.33082	B	0.073	0.28123	B	0.000137	0.49741	D	0.135046	0.948201	0.37600	D	.	.	.	1.88	0.26445	T	-0.2	0.11913	N	0.282	0.31925	-1.0803	0.07291	T	0.044	0.18824	T	10	0.006394297	0.00145	T	.	.	.	0.040	0.10527	.	.	0.195762928549	0.19159	0.29534988246284377	0.29447	0.294966467055	0.31910	0.441502094269	0.30782	T	0.008366	0.07688	T	-0.478341	0.00756	T	-0.450485	0.27644	T	0.00486648123826206	0.00052	T	0.840916	0.51656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.46261	B	.;.	.;.	1.828140	0.23228	15.94	0.98282560967596055	0.39870	0.88251	0.48095	D	AEFGBI	0.122124	0.23712	N	0.0833295425353199	0.45685	2.820986	0.233454900218796	0.51713	3.351511	0.935564017875048	0.27218	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	4.73	0.59485	2.746000	0.47143	0.795000	0.21604	0.599000	0.40250	0.994000	0.38300	0.249000	0.23905	0.972000	0.54974	0.0:0.9241:0.0:0.0759	15.756	0.77798	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010574	0.025253	0.013587	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	1487.33	40	chr14	67789467	.	C	G	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.825;DP=783;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.445;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	18	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	15	0	4	0
chr14	69054884	69054884	G	A	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.C1799T:p.A600V,DCAF5:NM_001284207:exon9:c.C1556T:p.A519V,DCAF5:NM_003861:exon9:c.C1802T:p.A601V	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0222368397432	0.0002	0.000399361	0.0009	0	8.637e-05	0.0002	0	0.0004	0.0011	0.0047	0.0007697	119	154602	rs138177045	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	2.236e-05	0	5.038e-05	0	0.0045	0.0001	0.0006	0.0045	0.0003	0.0003	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	9.626e-05	0	0	0	0.0002	0	0.0068	0.0002	0.0005	0.0042	0.309	0.14111	T	0.296	0.20615	T	0.0	0.02946	B	0.0	0.01387	B	0.209469	0.16400	N	0.587434	1	0.08975	N	0.345	0.11182	N	-0.27	0.67367	T	-0.55	0.16799	N	0.018	0.00527	-0.9930	0.31827	T	0.143	0.46495	T	10	0.0044243336	0.00090	T	0.022237	0.45108	T	0.125	0.34456	.	.	0.102598925029	0.09809	0.08701831296950793	0.08634	0.207032986661	0.23145	0.256115347147	0.04440	T	0.024437	0.18465	T	-0.574157	0.00209	T	-0.596697	0.13091	T	0.0150448754977393	0.00324	T	0.587941	0.21519	T	0.01599687	0.00170	0.02888056	0.01166	0.01599687	0.00170	0.02888056	0.01166	-3.322	0.14022	T	.	.	0.064	0.03552	B	.;.;.;.	.;.;.;.	0.708183	0.10771	7.457	0.95040214092727904	0.26046	0.22655	0.21819	N	AEFDGBI	0.100752	0.20251	N	-0.895888754659229	0.10939	0.5253329	-0.900138240396138	0.12090	0.6199337	0.999982996662421	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.17	1.26	0.20534	1.862000	0.39088	3.501000	0.38778	-0.103000	0.15852	0.496000	0.26925	0.997000	0.33255	0.169000	0.20946	0.2784:0.1215:0.6001:0.0	6.388	0.20777	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	2100.33	34	chr14	69054884	.	G	A	2100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.314;SOR=0.699	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	69209598	69209598	C	T	exonic	EXD2	.	nonsynonymous SNV	EXD2:NM_001193361:exon2:c.C128T:p.P43L,EXD2:NM_001193363:exon2:c.C128T:p.P43L,EXD2:NM_001193360:exon3:c.C128T:p.P43L,EXD2:NM_001193362:exon3:c.C128T:p.P43L	.	436	1076	10	0	0	10	0.00462535	.	.	.	2275994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0094930447176	.	.	6.05e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs752389207	9.654e-05	9.235e-05	9.596e-05	9.715e-05	0.0023	8.319e-05	7.769e-05	0.0013	0.0011	3.165e-05	0.0015	0	0	0	0.0023	3.707e-05	0.0003	0.0001	6.575e-05	6.567e-05	8.996e-05	4.039e-05	0.0003	3.519e-05	2.618e-05	0.0001	8.299e-05	2.415e-05	0	0.0003	0	0	0	0	5.881e-05	0	0	0.142	0.25457	T	0.336	0.18232	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.61	0.41143	L	-0.91	0.75001	T	-0.48	0.15379	N	0.094	0.07398	-1.0010	0.29631	T	0.158	0.49161	T	9	0.018281192	0.00396	T	0.009493	0.24855	T	0.072	0.21020	.	.	0.230578612272	0.22657	0.20792532397666824	0.20708	0.157749596145	0.17814	0.216754704714	0.01131	T	0.007317	0.06733	T	-0.499425	0.00576	T	-0.525544	0.19735	T	0.00205012292896989	0.00021	T	0.548145	0.18826	T	0.021765577	0.00797	0.022354342	0.00262	0.021765577	0.00797	0.022354342	0.00262	-3.387	0.14882	T	.	.	0.074	0.05017	B	.;.	.;.	-0.334824	0.02468	0.285	0.58285173748377239	0.05958	0.01800	0.05617	N	AEFGBI	0.033934	0.04114	N	-1.45190806788078	0.02202	0.09695731	-1.52888029519639	0.02125	0.09725158	0.978065255339809	0.29883	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.9	-6.18	0.01906	-1.773000	0.01883	0.211000	0.15962	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2605:0.4907:0.1567:0.0921	4.093	0.09451	865	0.32612	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	840.33	33	chr14	69209598	.	C	T	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=-2.126;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	18	0	1	0
chr14	69572725	69572725	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G898A:p.G300S	.	489	1019	14	0	0	14	0.00682261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.1667	0.25	.	.	.	0	.	.	0.0009444	146	154602	rs112597196	0.0057	0.0044	0.0057	0.0058	0.0191	0.0056	0.0056	0.0176	0.0170	0.0191	0.0057	0.0038	3.772e-05	0.0128	0.0165	0.0054	0.0066	0.0031	0.0098	0.0099	0.0099	0.0097	0.0175	0.0094	0.0092	0.0165	0.0160	0.0175	0.0011	0.0082	0.0055	0	0.0127	0.0170	0.0066	0.0104	0.0025	.	.	.	0.379	0.16037	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095	0.27400	L	1.85	0.24472	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.0028022528	0.00044	T	.	.	.	.	.	.	.	.	.	0.08548746969442873	0.08482	.	.	0.782288968563	0.79273	T	0.015139	0.12759	T	-0.585505	0.00178	T	-0.598877	0.12906	T	.	.	.	0.582642	0.21138	T	0.090948656	0.21298	0.15418081	0.36196	0.090948656	0.21298	0.15418081	0.36196	-4.213	0.26939	T	.	.	0.219	0.44948	B	.	.	3.430428	0.47670	22.5	0.97456485833148221	0.34058	0.91475	0.53609	D	AEFDGBCI	0.349290	0.44313	N	.	.	.	.	.	.	0.999552068343067	0.40362	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	3.75	0.84	0.18047	5.149000	0.64707	2.542000	0.33220	0.515000	0.23462	1.000000	0.71638	0.990000	0.31317	0.374000	0.26200	0.0:0.7333:0.0:0.2667	8.369	0.31567	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3222.83	36	chr14	69572725	.	C	T	3222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.81;DP=877;ExcessHet=0.119;FS=3.13;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.132;SOR=0.499	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1422,0,1334	17	0	2	0
chr14	69572880	69572880	G	A	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.C743T:p.S248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675615123148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.27e-07	3.42e-06	0	1.964e-06	1.088e-06	0	0	.	.	0	0	0	0	0	0	1.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.36901	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32	0.33002	L	1.25	0.36512	T	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.35437632	0.52223	T	0.675615	0.97303	D	.	.	.	.	0.556383890621	0.55297	0.35625288830234075	0.35539	.	.	0.918051242828	0.98171	D	0.022984	0.17626	T	-0.148903	0.28485	T	-0.451666	0.27513	T	.	.	.	0.693931	0.30359	T	0.26104587	0.49162	0.27567536	0.53506	0.26104587	0.49162	0.27567536	0.53505	-4.725	0.33705	T	.	.	0.642	0.70593	P	.	.	5.026528	0.83571	28.1	0.96326997884642895	0.29433	0.94782	0.62311	D	AEFDBCI	0.652481	0.62586	D	.	.	.	.	.	.	0.999999999991553	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	4.47	4.47	0.53770	3.053000	0.49592	11.364000	0.92594	0.579000	0.29447	0.996000	0.39380	1.000000	0.68203	0.948000	0.49324	0.0:0.0:1.0:0.0	16.948	0.86105	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1968.33	40	chr14	69572880	.	G	A	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.721;DP=908;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.872;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr14	70167270	70167270	C	T	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_033262:exon2:c.G1153A:p.E385K,SLC8A3:NM_058240:exon2:c.G1153A:p.E385K,SLC8A3:NM_182932:exon2:c.G1153A:p.E385K,SLC8A3:NM_183002:exon2:c.G1153A:p.E385K	.	.	.	.	.	.	.	.	.	.	.	4068261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0273076079756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438650441	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.023	0.49117	D	0.334	0.18732	T	0.811	0.46605	P	0.146	0.38116	B	0.000001	0.84330	D	0.054654	1	0.81001	D	2.08	0.57402	M	1.33	0.36691	T	-1.89	0.44284	N	0.69	0.69562	-0.9347	0.43439	T	0.192	0.54418	T	10	0.63748604	0.68865	D	0.027308	0.50134	D	0.102	0.29158	0.399	0.42753	0.245697971988	0.24196	0.5378766932209852	0.53712	0.366406854506	0.38217	0.538694500923	0.44261	T	0.229903	0.59584	T	-0.0398596	0.45969	T	-0.295032	0.45248	T	0.912504851818085	0.56843	D	0.960204	0.84976	D	0.22117123	0.44688	0.27533373	0.53468	0.22117123	0.44688	0.27533373	0.53467	-6.758	0.53771	T	.	.	0.243	0.47773	B	.;.;.;.;.	.;.;.;.;.	4.230304	0.64060	24.7	0.99678658787949914	0.79108	0.96116	0.67606	D	AEFGBI	0.631314	0.61234	D	0.494408801811757	0.66761	4.992287	0.534190247562169	0.70306	5.485755	0.986407396025654	0.31058	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	5.019000	0.63828	6.034000	0.52951	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:1.0:0.0:0.0	20.124	0.97973	664	0.61548	.;Na-Ca exchanger/integrin-beta4;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2874.33	34	chr14	70167270	.	C	T	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.38;DP=816;ExcessHet=0;FS=3.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=0.543;SOR=0.972	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr14	70738300	70738300	G	A	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284232:exon7:c.C1015T:p.R339W,MAP3K9:NM_001284230:exon8:c.C1789T:p.R597W,MAP3K9:NM_001284231:exon8:c.C1144T:p.R382W,MAP3K9:NM_033141:exon8:c.C1789T:p.R597W	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0413931744124	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.0003816	59	154602	rs142599599	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.987e-05	0.0001	0	7.564e-05	0	0.0031	0.0003	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.698e-05	0.0004	0.0003	7.221e-05	0	0.0003	0	0	0	0	0.0002	0	0.0010	0.055	0.51248	T	0.014	0.62352	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	1.965	0.53209	M	2.56	0.13673	T	-4.66	0.81030	D	0.739	0.90025	-1.1943	0.00197	T	0.089	0.34160	T	10	0.16843945	0.31395	T	0.041393	0.59904	D	0.261	0.57352	.	.	0.683016084099	0.68031	0.3876492769807547	0.38679	1.01292625865	0.74835	0.838591396809	0.87880	D	0.111438	0.81659	T	-0.154337	0.27635	T	-0.0134849	0.69457	D	0.170555304305258	0.18617	T	0.990201	0.96964	D	0.31134605	0.53902	0.33000213	0.58874	0.31134605	0.53902	0.33000213	0.58873	-8.024	0.62660	D	.	.	0.286	0.51840	B	.;.;.;.;.;.	.;.;.;.;.;.	5.300305	0.88984	29.8	0.99924663780018896	0.98980	0.99209	0.92840	D	AEFDBI	0.782750	0.71394	D	0.58049421409815	0.71958	5.730784	0.582470740974034	0.73683	6.010882	0.999999933218783	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	5.266000	0.65339	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:1.0:0.0	20.428	0.99077	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1844.33	34	chr14	70738300	.	G	A	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=842;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.038;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	70976961	70976961	G	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.G624C:p.K208N,PCNX1:NM_014982:exon6:c.G624C:p.K208N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0157206283292	.	0.000798722	0.0006	0	0	0	0	0	0	0.0046	0.0005304	82	154602	rs575082538	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0036	0.0035	2.993e-05	0	0	0	0	0	7.205e-06	0.0003	0.0040	8.536e-05	8.53e-05	2.57e-05	0.0001	0.0027	4.954e-05	3.96e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.026	0.46910	D	0.438	0.13403	T	0.999	0.77913	D	0.991	0.79672	D	0.000011	0.62929	D	0.110266	0.998805	0.45475	D	1.845	0.48678	L	0.93	0.44065	T	-0.73	0.21860	N	0.615	0.63544	-1.0080	0.27541	T	0.136	0.45184	T	10	0.009058386	0.00205	T	0.015721	0.36608	T	0.134	0.36365	0.221	0.14371	0.082315109003	0.07666	0.4182032639389791	0.41736	0.564902044119	0.52854	0.604920506477	0.53599	T	0.113175	0.43000	T	-0.432021	0.01441	T	-0.393489	0.34142	T	0.116555453859866	0.14089	T	0.878912	0.59457	D	0.0944096	0.22196	0.09320041	0.22002	0.0944096	0.22195	0.09320041	0.22002	-4.036	0.25394	T	.	.	0.411	0.71059	A	.;.	.;.	3.320320	0.45663	22.2	0.98620815014639696	0.43771	0.98471	0.83126	D	AEFGBI	0.529797	0.55076	D	0.171779893520868	0.49846	3.181	0.178528253011861	0.48671	3.079993	0.999921017332947	0.46280	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.86	0.32427	3.848000	0.55612	3.467000	0.38554	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2201:0.0:0.7799:0.0	9.357	0.37336	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1994.33	33	chr14	70976961	.	G	C	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.29;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1297	18	0	1	0
chr14	70977752	70977752	C	T	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.C1415T:p.P472L,PCNX1:NM_014982:exon6:c.C1415T:p.P472L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00525093213499	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781694212	8.893e-06	8.893e-06	6.806e-06	1.1e-05	0.0003	4.96e-06	3.82e-06	6.092e-05	3.272e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	0	9.275e-05	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.036	0.54683	D	0.478	0.15842	T	0.0	0.02946	B	0.0	0.01387	B	0.673297	0.10322	N	0.848182	1	0.08975	N	0	0.06538	N	3.43	0.10196	T	-0.8	0.31375	N	0.082	0.09349	-0.9402	0.42584	T	0.016	0.06473	T	10	0.07330608	0.11057	T	0.005251	0.13402	T	0.068	0.19811	0.172	0.07774	0.043077524339	0.03247	0.14209192975241083	0.14132	0.104667754048	0.11842	0.217302426696	0.01160	T	0.016267	0.13477	T	-0.468269	0.00871	T	-0.673744	0.07371	T	0.0364330778314956	0.03056	T	0.825817	0.48860	T	0.028944554	0.02311	0.033205923	0.02177	0.028944554	0.02311	0.033205923	0.02176	-3.261	0.13239	T	.	.	0.063	0.04159	B	.;.	.;.	0.413399	0.07843	4.539	0.91619077432830809	0.20904	0.59158	0.30838	D	AEFBI	0.096633	0.19504	N	-1.00175106246941	0.08567	0.40219	-0.968949752822304	0.10486	0.5284778	0.999215968069297	0.38775	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	2.3	0.27735	1.168000	0.31468	-0.012000	0.13046	0.597000	0.34315	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1304:0.6185:0.2511:0.0	11.701	0.50835	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1713.33	33	chr14	70977752	.	C	T	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=749;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.393;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1297	18	0	1	0
chr14	70978028	70978028	C	T	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.C1691T:p.T564I,PCNX1:NM_014982:exon6:c.C1691T:p.T564I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0290314532526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.155	0.35205	T	0.664	0.41009	P	0.168	0.35187	B	0.000020	0.62929	D	0.113791	0.96476	0.40763	D	1.04	0.26193	L	5.43	0.00989	T	-1.73	0.41046	N	0.419	0.51494	-0.2283	0.76932	T	0.004	0.01470	T	10	0.25234908	0.42587	T	0.029031	0.51609	D	0.203	0.48915	0.233	0.16155	0.043077524339	0.03247	0.2241271112751639	0.22327	0.148518372193	0.16750	0.69328224659	0.66177	T	0.037614	0.24541	T	-0.174039	0.24626	T	-0.487771	0.23623	T	0.855947554111481	0.50685	D	0.911109	0.72788	D	0.080553934	0.18464	0.12115695	0.29235	0.080553934	0.18464	0.12115695	0.29234	-4.545	0.31473	T	.	.	0.218	0.66060	B	.;.	.;.	3.625607	0.51336	23.1	0.99393799716350639	0.62474	0.98150	0.80031	D	AEFGBI	0.343874	0.43954	N	0.25860145154748	0.54067	3.573146	0.379395349314254	0.60297	4.21562	0.999983218793124	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.154000	0.57902	7.620000	0.62269	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:1.0:0.0:0.0	20.207	0.98282	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2070.33	33	chr14	70978028	.	C	T	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=869;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.129;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1297	18	0	1	0
chr14	70978285	70978285	A	G	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.A1948G:p.K650E,PCNX1:NM_014982:exon6:c.A1948G:p.K650E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0220677842902	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs776201327	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	9.791e-05	7.838e-05	0	0	0	0	0	0.0002	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.99	0.02759	T	0.026	0.19406	B	0.03	0.21741	B	0.032400	0.25036	N	0.458483	0.755844	0.33981	D	1.61	0.41143	L	5.72	0.00726	T	-0.5	0.15782	N	0.318	0.40665	-0.6095	0.64424	T	0.003	0.00832	T	10	0.07687625	0.12063	T	0.022068	0.44919	T	0.149	0.39377	0.278	0.23164	0.043077524339	0.03247	0.17080837872702376	0.17000	0.146305074043	0.16518	0.379832148552	0.22232	T	0.013051	0.11362	T	-0.342407	0.05223	T	-0.437472	0.29092	T	0.0889510386875502	0.11092	T	0.872113	0.57861	D	0.10765581	0.25456	0.12399012	0.29890	0.10765581	0.25456	0.12399012	0.29890	-4.111	0.27612	T	.	.	0.109	0.28406	B	.;.	.;.	2.724445	0.35642	19.95	0.90400382688311154	0.19661	0.99193	0.92604	D	AEFGBI	0.525755	0.54839	D	-0.313991374431796	0.28616	1.579841	-0.214293837723917	0.31022	1.751856	0.999999992891354	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.596000	0.60764	9.205000	0.79205	0.754000	0.88378	0.999000	0.42656	1.000000	0.68203	0.765000	0.36330	1.0:0.0:0.0:0.0	16.272	0.82453	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1417.33	33	chr14	70978285	.	A	G	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=903;ExcessHet=0;FS=6.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.372;SOR=0.336	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1447	18	0	1	0
chr14	71028736	71028736	T	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon14:c.T3170C:p.I1057T,PCNX1:NM_014982:exon16:c.T3503C:p.I1168T	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0143751284994	0.0003	0.000399361	0.0001	0.0011	0.0002	0	0	4.505e-05	0.0011	0	0.0001294	20	154602	rs139378708	7.209e-05	7.319e-05	8.472e-05	5.933e-05	0.0013	6.069e-05	5.615e-05	0.0010	0.0009	0.0013	0.0002	0	0	0	0.0002	2.794e-05	0.0003	0	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0011	0.0009	0.0011	0	0.0016	0	0	0	0	2.944e-05	0.0009	0	0.506	0.07594	T	0.411	0.14865	T	0.181	0.29111	B	0.031	0.21939	B	0.007534	0.31343	N	0.343346	0.992349	0.41620	D	0.805	0.20218	L	3.37	0.09822	T	-1.07	0.30964	N	0.798	0.79406	-1.0158	0.25078	T	0.125	0.42903	T	10	0.048135787	0.04225	T	0.014375	0.34458	T	0.196	0.47777	.	.	0.043077524339	0.03247	0.3558026994147007	0.35494	0.149359585113	0.16842	0.706272721291	0.68053	T	0.053752	0.29532	T	-0.401806	0.02253	T	-0.37457	0.36355	T	0.0157993310021552	0.00369	T	0.882612	0.60317	D	0.059194796	0.12002	0.048440233	0.07194	0.059194796	0.12001	0.048440233	0.07193	-5.713	0.43809	T	.	.	0.135	0.29394	B	.;.	.;.	3.314638	0.45555	22.2	0.95951471579478731	0.28272	0.97976	0.78572	D	AEFBI	0.589436	0.58632	D	-0.0215436749306175	0.40883	2.435518	0.0181194188425605	0.40557	2.422297	0.999998704212094	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	4.14	0.47821	5.487000	0.66584	5.038000	0.46886	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.0722:0.0:0.9278	11.248	0.48240	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	815.33	67	chr14	71028736	.	T	C	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=703;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.862;SOR=1.126	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1041	18	0	1	0
chr14	71108846	71108846	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon32:c.G6211A:p.G2071S,PCNX1:NM_014982:exon34:c.G6544A:p.G2182S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0153057235005	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs775426657	3.352e-05	3.352e-05	3.675e-05	3.025e-05	5.974e-05	2.566e-05	2.312e-05	3.257e-05	2.918e-05	5.974e-05	0	0	0	0	0	4.227e-05	0	0	7.227e-05	7.223e-05	8.991e-05	5.38e-05	0.0002	3.971e-05	3.127e-05	7.891e-05	5.587e-05	0.0002	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.106	0.29688	T	0.611	0.07666	T	0.999	0.77913	D	0.791	0.57754	P	0.000441	0.44522	D	0.192576	0.999795	0.51968	D	1.04	0.26193	L	3.41	0.09356	T	0.26	0.04776	N	0.679	0.68603	-1.0917	0.05254	T	0.044	0.18783	T	10	0.5717925	0.65360	D	0.015306	0.35967	T	0.235	0.53788	.	.	0.134007934775	0.12933	0.5079168575446802	0.50713	0.455785351285	0.45246	0.41775983572	0.27529	T	0.014302	0.12203	T	-0.227202	0.17020	T	-0.382608	0.35417	T	0.333375304937363	0.26360	T	0.89741	0.64114	D	0.04127465	0.06047	0.086481944	0.20039	0.04127465	0.06047	0.086481944	0.20039	-2.471	0.05586	T	.	.	0.063	0.01534	B	.;.	.;.	3.128290	0.42264	21.5	0.99721972824063776	0.82125	0.99103	0.91270	D	AEFDGBI	0.810795	0.73395	D	0.364345202538977	0.59500	4.130041	0.391689059795638	0.61053	4.300062	0.999999999999206	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.109000	0.76703	5.102000	0.47443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	20.191	0.98231	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3194.33	35	chr14	71108846	.	G	A	3194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=897;ExcessHet=0;FS=2.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.43;SOR=0.794	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1380	18	0	1	0
chr14	71588375	71588375	G	A	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon2:c.G503A:p.R168H,SIPA1L1:NM_001284247:exon4:c.G503A:p.R168H,SIPA1L1:NM_001354285:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354287:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354288:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354286:exon6:c.G503A:p.R168H,SIPA1L1:NM_001284245:exon7:c.G503A:p.R168H,SIPA1L1:NM_015556:exon7:c.G503A:p.R168H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0191536938539	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs765649102	8.21e-06	8.209e-06	6.807e-06	9.627e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.648	0.07150	T	0.336	0.77913	B	0.139	0.77487	B	0.000000	0.84330	D	0.045472	1	0.81001	D	0.985	0.24966	L	0.79	0.49068	T	-0.98	0.25986	N	0.563	0.62696	-0.9151	0.46207	T	0.196	0.54999	T	10	0.32314867	0.49656	T	0.019154	0.41433	T	0.259	0.57090	0.33	0.31519	0.690722937359	0.68806	0.5013866605442484	0.50060	0.658459894302	0.58751	0.856479227543	0.90588	D	0.032059	0.22321	T	0.0361176	0.56533	T	-0.185896	0.55973	T	0.346485063957195	0.26880	T	0.857714	0.54741	D	0.13098182	0.30546	0.12735882	0.30658	0.13098182	0.30546	0.12735882	0.30657	-3.485	0.16223	T	.	.	0.306	0.53425	B	.;.;.	.;.;.	3.950151	0.57866	23.9	0.71481795175395557	0.09644	0.95814	0.66267	D	AEFGBCI	0.896627	0.83790	D	0.335946573364463	0.58003	3.970098	0.396483481521129	0.61349	4.333614	0.999999999995736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	10.003000	0.99689	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.210000	0.22183	0.0:0.0:1.0:0.0	19.403	0.94627	410	0.82135	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1650.33	33	chr14	71588375	.	G	A	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=800;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.109;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	18	0	1	0
chr14	73251775	73251775	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon8:c.G782A:p.G261E,PAPLN:NM_173462:exon8:c.G701A:p.G234E,PAPLN:NM_001365906:exon9:c.G782A:p.G261E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0733793491446	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1433536565	1.302e-05	1.3e-05	9.549e-06	1.654e-05	0.0002	8.33e-06	6.71e-06	5.76e-06	4.55e-06	0	2.271e-05	0	0	0	0.0002	1.08e-05	4.977e-05	2.325e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999898	0.50595	D	2.185	0.61350	M	-0.06	0.63568	T	-7.02	0.93786	D	0.675	0.68690	-0.2123	0.77353	T	0.391	0.74539	T	9	0.8815023	0.87462	D	0.073379	0.71774	D	0.592	0.83747	.	.	0.643794017197	0.64084	0.5989917592201827	0.59830	0.852657241557	0.68610	0.717287063599	0.69652	T	0.055787	0.30103	T	0.265341	0.80019	D	0.233098	0.84820	D	0.942513883113861	0.61678	D	0.90061	0.65471	D	0.58487433	0.71874	0.59733176	0.76617	0.58487433	0.71875	0.59733176	0.76618	-11.572	0.82704	D	.	.	0.372	0.58546	A	.;.;.;.	.;.;.;.	4.629510	0.73586	26.0	0.99830446136636652	0.91198	0.97608	0.75872	D	AEFDBCI	0.934609	0.92823	D	0.728969479596118	0.81532	7.544273	0.693086033931177	0.81855	7.62499	0.999999999975794	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.622129	0.49086	0	.	.	4.77	4.77	0.60425	9.912000	0.98686	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	17.413	0.87384	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	33	chr14	73251775	.	G	A	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=730;ExcessHet=0;FS=1.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.449;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr14	73261255	73261255	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon17:c.G2206A:p.G736S,PAPLN:NM_173462:exon17:c.G2125A:p.G709S,PAPLN:NM_001365906:exon18:c.G2206A:p.G736S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0432195865289	0.0025	0.000798722	0.0025	0.0004	0.0029	0	0.0008	0.0033	0.0044	0.0024	0.0024644	381	154602	rs145250622	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0006	0.0017	3.826e-05	2.519e-05	0.0013	0.0014	0.0039	0.0037	0.0031	0.0021	0.0021	0.0024	0.0019	0.0036	0.0019	0.0018	0.0032	0.0031	0.0006	0.0066	0.0012	0	0	0.0006	0.0102	0.0036	0.0024	0.0029	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	0.997185	0.43692	D	3.385	0.91502	M	-0.14	0.65006	T	-4.14	0.75456	D	0.697	0.71942	0.093	0.84051	D	0.487	0.80486	T	9	0.033061773	0.01472	T	0.04322	0.60869	D	0.491	0.77783	.	.	0.568962582336	0.56561	0.5660381144225889	0.56531	0.73986025186	0.63191	0.646865725517	0.59541	T	0.271279	0.64359	T	-0.0838483	0.39086	T	0.105943	0.77303	D	0.0729112545882051	0.09054	T	0.922508	0.72041	D	0.34272504	0.56495	0.2492163	0.50488	0.34272504	0.56495	0.2492163	0.50487	-11.18	0.84013	D	.	.	0.419	0.65265	A	.;.;.;.	.;.;.;.	4.463355	0.69484	25.4	0.99782436310463241	0.86867	0.99329	0.94577	D	AEFDGBI	0.904416	0.85469	D	0.566377400131783	0.71084	5.597611	0.403593135130335	0.61787	4.383967	0.999999999997106	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.75	4.75	0.59954	8.567000	0.90529	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	17.942	0.88947	746	0.52331	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	953.33	34	chr14	73261255	.	G	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.484;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.307;SOR=0.751	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr14	73272565	73272565	G	C	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon26:c.G3690C:p.L1230F,PAPLN:NM_173462:exon26:c.G3657C:p.L1219F,PAPLN:NM_001365906:exon27:c.G3738C:p.L1246F	.	418	1101	3	0	0	3	0.00136054	.	.	.	2337518	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0399330253469	.	.	9.946e-05	0	8.642e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs538710096	7.238e-05	7.388e-05	5.47e-05	9.034e-05	0.0023	6.093e-05	5.637e-05	0.0013	0.0011	0.0002	0.0002	0	0	0	0.0023	5.894e-05	0.0002	4.659e-05	0.0001	0.0001	6.421e-05	0.0002	0.0007	8.663e-05	7.255e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	8.818e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.906565	0.81001	D	3.175	0.88760	M	0.47	0.56114	T	-2.88	0.60507	D	0.399	0.63204	-0.1879	0.77981	T	0.368	0.72834	T	9	0.37232792	0.53571	T	0.039933	0.59093	D	0.404	0.71714	0.519	0.62066	0.550759897685	0.54733	0.5937914585599414	0.59309	0.777429178935	0.65112	0.631005764008	0.57288	T	0.093955	0.39318	T	-0.17273	0.24822	T	-0.192404	0.55365	T	0.402377009391785	0.29031	T	0.877212	0.59013	D	0.30185458	0.53070	0.34598064	0.60272	0.30185458	0.53070	0.34598064	0.60272	-11.157	0.80512	D	.	.	0.376	0.68206	A	.;.;.;.	.;.;.;.	4.023538	0.59445	24.1	0.99862014944447541	0.94002	0.92704	0.56342	D	AEFDGBI	0.421224	0.48773	N	0.54776638638733	0.69945	5.429912	0.460972441216428	0.65425	4.822151	0.999494147421785	0.40007	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.54	3.66	0.41111	2.719000	0.46913	7.258000	0.57951	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.3952:0.6048:0.0	15.536	0.75742	751	0.51694	PLAC|PLAC;.;PLAC|PLAC;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	959.33	35	chr14	73272565	.	G	C	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.812;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.795;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.02632	1910.33	181	chr14	73491733	.	A	G	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.384;DP=1680;ExcessHet=0;FS=1.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.004;SOR=0.541	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr14	73506550	73506550	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon9:c.G1903A:p.A635T,HEATR4:NM_001220484:exon10:c.G1903A:p.A635T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00734494284573	0.0013	0.000599042	0.0018	0.0003	0.0003	0	0.0024	0.0029	0.0033	6.066e-05	0.0016947	262	154602	rs143649458	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0002	0.0009	7.654e-05	0	0.0024	0.0010	0.0020	0.0016	9.275e-05	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0005	0	0	0.0021	0	0.0017	0.0024	0.0004	0.065	0.36310	T	0.014	0.62352	D	0.999	0.77913	D	0.894	0.63417	P	0.000805	0.41658	D	0.107337	0.989837	0.41032	D	2.455	0.71248	M	2.69	0.12268	T	-2.43	0.53258	N	0.58	0.60156	-1.2046	0.00118	T	0.085	0.33014	T	10	0.021914065	0.00535	T	0.007345	0.19469	T	0.238	0.54217	.	.	0.471539375507	0.46780	0.1422974624417757	0.14152	0.54086972001	0.51271	0.516801416874	0.41176	T	0.057243	0.30512	T	-0.417963	0.01763	T	-0.378699	0.35875	T	0.0523647673276156	0.05910	T	0.783622	0.42065	T	0.07622875	0.17225	0.14685965	0.34776	0.07622875	0.17225	0.14685965	0.34776	-7.761	0.59430	D	.	.	0.42	0.61275	A	.;.	.;.	4.445795	0.69071	25.3	0.99922912428495447	0.98852	0.95375	0.64475	D	AEFI	0.594582	0.58946	D	0.686230284028107	0.78731	6.930849	0.693970903894414	0.81921	7.640984	0.999999967223625	0.74766	0.716115	0.82089	0	0.588066	0.40923	0	0.640751	0.46059	0	0.76194	0.99817	0	.	.	6.16	6.16	0.99302	4.739000	0.61776	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:1.0:0.0:0.0	19.631	0.95699	285	0.88719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1567.33	128	chr14	73506550	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=747;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.555;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr14	73523082	73523082	C	G	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.G71C:p.G24A,HEATR4:NM_001220484:exon3:c.G71C:p.G24A	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00391561415509	.	.	8.713e-06	0	0	0	0	0	0	6.121e-05	6.5e-06	1	154602	rs569097038	5.477e-06	5.472e-06	5.45e-06	5.505e-06	0.0002	2.36e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.91255	T	0.481	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.905	0.50856	L	2.43	0.15261	T	-1.04	0.74051	N	0.114	0.10198	-1.0517	0.13926	T	0.035	0.14900	T	6	0.10360113	0.19055	T	0.003916	0.09211	T	0.050	0.13987	0.492	0.57890	0.104622674875	0.10061	0.1233926964988219	0.12265	0.127972661917	0.14428	0.261129111052	0.05026	T	0.004018	0.03433	T	-0.336603	0.05626	T	-0.620654	0.11135	T	0.0470685239065122	0.04978	T	0.618838	0.25884	T	0.047517207	0.08134	0.06737587	0.13930	0.047517207	0.08134	0.06737587	0.13930	-3.459	0.15863	T	.	.	0.131	0.38117	B	.;.;.;.;.	.;.;.;.;.	0.404403	0.07755	4.439	0.73845343284727227	0.10476	0.21438	0.21402	N	AEFDI	0.065027	0.12660	N	-0.320699243092785	0.28362	1.563771	-0.333926726554193	0.27011	1.495884	0.849234308283226	0.25012	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.6	3.77	0.42499	0.891000	0.27944	0.380000	0.17770	-0.223000	0.07921	0.032000	0.20554	0.005000	0.19230	0.028000	0.12845	0.0:0.7473:0.165:0.0877	7.688	0.27716	271	0.89373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1812.83	86	chr14	73523082	.	C	G	1812.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=876;ExcessHet=0.119;FS=3.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.573;SOR=0.444	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	17	0	2	0
chr14	73739071	73739071	G	C	exonic	MIDEAS	.	nonsynonymous SNV	MIDEAS:NM_001043318:exon2:c.C938G:p.P313R,MIDEAS:NM_001367710:exon2:c.C938G:p.P313R,MIDEAS:NM_194278:exon2:c.C938G:p.P313R	.	.	.	.	.	.	.	.	.	.	.	2673177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00462931751904	.	.	1.896e-05	0	0	0	0	1.632e-05	0	0.0001	1.29e-05	2	154602	rs765568789	3.442e-05	3.489e-05	3.329e-05	3.557e-05	0.0003	2.635e-05	2.374e-05	0.0001	0.0001	0.0003	2.37e-05	0	2.543e-05	0	0	2.569e-05	1.701e-05	0.0001	7.231e-05	7.224e-05	8.996e-05	5.383e-05	0.0002	3.973e-05	3.129e-05	4.767e-05	3.34e-05	7.244e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.165	0.23271	T	0.052	0.47581	T	0.055	0.22733	B	0.01	0.14941	B	0.132130	0.18598	N	0.501287	1	0.08975	N	1.1	0.28011	L	2.59	0.13434	T	0.22	0.04694	N	0.246	0.29889	-0.9599	0.39199	T	0.019	0.07986	T	10	0.07373011	0.11179	T	0.004629	0.11472	T	0.019	0.03383	.	.	0.102598925029	0.09809	0.33913744795134243	0.33826	0.447518469546	0.44606	0.496607005596	0.38354	T	0.020506	0.22210	T	-0.354795	0.04434	T	-0.564024	0.16000	T	0.0173081674576201	0.00471	T	0.740526	0.35940	T	0.03461036	0.03916	0.0444516	0.05764	0.03461036	0.03915	0.0444516	0.05763	-4.535	0.31344	T	.	.	0.139	0.37178	B	.;.;.;.	.;.;.;.	2.306676	0.29522	18.15	0.91123050736643296	0.20376	0.73556	0.35979	D	AEFDBCI	0.127036	0.24424	N	-0.489516870720729	0.22424	1.197248	-0.339242847369935	0.26843	1.48541	0.99974492560457	0.42466	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.84	0.32241	0.841000	0.27267	2.641000	0.33754	0.590000	0.31872	0.960000	0.33603	1.000000	0.68203	0.920000	0.45560	0.0817:0.0:0.3909:0.5274	7.593	0.27200	354	0.85282	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	763.33	38	chr14	73739071	.	G	C	763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.126;DP=801;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-2.096;SOR=0.412	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr14	73898239	73898239	A	G	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon4:c.A338G:p.K113R,ZNF410:NM_001242926:exon5:c.A557G:p.K186R,ZNF410:NM_021188:exon5:c.A557G:p.K186R,ZNF410:NM_001242924:exon6:c.A608G:p.K203R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00683816428383	.	.	8.245e-05	0	0	0	0	0.0001	0.0022	6.066e-05	7.12e-05	11	154602	rs756153694	3.899e-05	3.899e-05	3.267e-05	4.538e-05	0.0002	3.047e-05	2.783e-05	1.779e-05	1.03e-05	0	6.708e-05	0.0007	0	0	0.0002	1.889e-05	0.0002	4.638e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.1	0.33585	T	0.296	0.22223	T	0.0	0.02946	B	0.002	0.06944	B	0.000773	0.41888	D	0.000000	0.92053	0.81001	D	1.085	0.27262	L	3.07	0.08634	T	-0.65	0.24026	N	0.178	0.21319	-1.0180	0.24366	T	0.030	0.12979	T	10	0.09961218	0.18089	T	0.006838	0.18093	T	0.051	0.14325	0.407	0.44066	0.262679179196	0.25893	0.36378042493170876	0.36292	0.513051417295	0.49314	0.618372559547	0.55499	T	0.050928	0.28734	T	-0.421715	0.01668	T	-0.639941	0.09674	T	0.102384967216176	0.12617	T	0.932007	0.75759	D	0.058180254	0.11674	0.08600172	0.19895	0.058180254	0.11673	0.08600172	0.19894	-3.741	0.19925	T	.	.	0.125	0.34294	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.387314	0.46878	22.4	0.9980697036975279	0.89085	0.94076	0.60040	D	AEFGBI	0.347418	0.44189	N	-0.000915948448349246	0.41813	2.50785	0.0995906721447063	0.44527	2.732869	0.995280651451073	0.34045	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	3.9	0.44240	3.667000	0.54283	9.202000	0.79188	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.9252:0.0:0.0748:0.0	10.720	0.45234	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1162.33	42	chr14	73898239	.	A	G	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.553;DP=743;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.852;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I,ZNF410:NM_001242928:exon10:c.G583A:p.V195I,ZNF410:NM_021188:exon10:c.G1171A:p.V391I,ZNF410:NM_001242924:exon11:c.G1222A:p.V408I	.	437	1073	12	0	0	12	0.0055607	.	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1064.33	36	chr14	73922107	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.532;DP=699;ExcessHet=0;FS=4.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.646;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	18	0	1	0
chr14	73934324	73934324	C	T	exonic	FAM161B	.	nonsynonymous SNV	FAM161B:NM_152445:exon9:c.G1876A:p.A626T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00138162215319	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs756164722	1.71e-05	1.71e-05	6.806e-06	2.75e-05	0.0003	1.174e-05	9.92e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.846	0.03548	T	.	.	.	.	.	.	0.719232	0.09949	N	0.844518	1	0.08975	N	.	.	.	2.58	0.13434	T	0.24	0.04533	N	0.013	0.00142	-0.9461	0.41632	T	0.010	0.03856	T	10	0.03488958	0.01715	T	0.001382	0.02011	T	0.049	0.13647	.	.	0.0297737177859	0.01360	.	.	0.0607206208309	0.06755	0.215834051371	0.01083	T	.	.	.	-0.647882	0.00075	T	-0.872222	0.00722	T	0.89759749174118	0.54953	D	0.408959	0.10549	T	.	.	.	.	.	.	.	.	-3.876	0.21943	T	.	.	.	.	.	.	.	0.043315	0.04589	1.265	0.79723791140933908	0.12872	0.00335	0.01744	N	AEFBI	0.021008	0.00889	N	-1.36972431415942	0.02926	0.1299269	-1.31776526480773	0.04201	0.1976384	0.0885025695442015	0.16062	0.562547	0.31514	0	0.379588	0.06130	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.74	-2.34	0.06321	-0.586000	0.05880	0.127000	0.14995	-0.181000	0.10308	0.000000	0.06391	0.732000	0.26423	0.930000	0.46718	0.3163:0.2015:0.1624:0.3198	0.076	0.00024	398	0.82839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	588.33	36	chr14	73934324	.	C	T	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=690;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.175;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	18	0	1	0
chr14	73961263	73961263	G	A	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon9:c.G982A:p.A328T,COQ6:NM_182480:exon9:c.G907A:p.A303T	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	211683	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	0.0159652514301	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs564107029	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	0	0	0	0	0.0003	2.698e-06	8.279e-05	0.0022	6.567e-05	6.561e-05	3.855e-05	9.401e-05	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0017	0.527	0.13262	T	0.596	0.08390	T	0.03	0.47557	B	0.102	0.45259	B	0.000099	0.51296	D	0.205916	0.965309	0.81001	D	1.1	0.28011	L	0.9	0.55945	T	-0.45	0.23156	N	0.118	0.10769	-1.0039	0.28785	T	0.143	0.46495	T	10	0.015718043	0.00330	T	0.015965	0.36990	T	0.056	0.15993	0.508	0.60386	0.574533306093	0.57122	0.4916409407676685	0.49085	0.717079257178	0.62030	0.333456277847	0.15455	T	0.072606	0.40940	T	-0.365236	0.03843	T	-0.30327	0.44378	T	0.0974821506386098	0.12078	T	0.875712	0.61484	D	0.08172785	0.18793	0.09306714	0.21963	0.0805524	0.18464	0.10137892	0.24267	-4.329	0.37865	T	.	.	0.071	0.07841	B	.;.;.;.	.;.;.;.	3.417220	0.47432	22.5	0.99252660754251565	0.56924	0.95684	0.65718	D	AEFGBI	0.522804	0.54666	D	0.0710670105650485	0.45117	2.773631	0.224800470244578	0.51227	3.307092	0.999603626330051	0.40866	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	3.383000	0.52206	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1439:0.8561:0.0	14.777	0.69359	401	0.82673	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3817.83	33	chr14	73961263	.	G	A	3817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.025;DP=854;ExcessHet=0.119;FS=2.734;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.89;SOR=0.55	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	17	0	2	0
chr14	74260600	74260600	A	G	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon5:c.A767G:p.H256R	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.368702251261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-3.22	0.93352	D	-7.79	0.95897	D	0.774	0.77132	0.783	0.94206	D	0.843	0.94753	D	10	0.8833517	0.87653	D	0.368702	0.92692	D	0.756	0.91668	0.363	0.36874	0.94806301202	0.94752	0.6880629616102394	0.68746	0.517063166521	0.49585	0.900497615337	0.96496	D	0.800993	0.94926	D	0.287065	0.81912	D	0.174572	0.81679	D	0.999006927013397	0.95858	D	0.831417	0.49863	T	0.9107018	0.92360	0.8661791	0.92603	0.9107018	0.92361	0.8661791	0.92603	-14.381	0.94229	D	0.5525977982605903	0.62105	0.990	0.93663	P	.	.	5.161832	0.86488	28.9	0.99645123194412455	0.76943	0.99224	0.93061	D	AEFDBI	0.895571	0.83573	D	0.63733168458961	0.75552	6.326062	0.591824284882662	0.74350	6.122485	0.999983620575	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.93	3.78	0.42629	8.735000	0.91247	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.672	0.44961	577	0.69927	CVC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	33	chr14	74260600	.	A	G	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.444;SOR=0.576	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr14	74290428	74290428	G	C	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon9:c.C401G:p.P134R,ABCD4:NM_001353607:exon9:c.C401G:p.P134R,ABCD4:NM_001353594:exon10:c.C878G:p.P293R,ABCD4:NM_001353597:exon10:c.C725G:p.P242R,ABCD4:NM_001353598:exon10:c.C713G:p.P238R,ABCD4:NM_001353601:exon10:c.C713G:p.P238R,ABCD4:NM_001353603:exon10:c.C401G:p.P134R,ABCD4:NM_001353606:exon10:c.C401G:p.P134R,ABCD4:NM_001353608:exon10:c.C401G:p.P134R,ABCD4:NM_001353591:exon11:c.C1064G:p.P355R,ABCD4:NM_001353592:exon11:c.C1064G:p.P355R,ABCD4:NM_001353593:exon11:c.C929G:p.P310R,ABCD4:NM_001353596:exon11:c.C776G:p.P259R,ABCD4:NM_001353599:exon11:c.C713G:p.P238R,ABCD4:NM_001353600:exon11:c.C713G:p.P238R,ABCD4:NM_001353602:exon11:c.C401G:p.P134R,ABCD4:NM_001353605:exon11:c.C401G:p.P134R,ABCD4:NM_001353609:exon11:c.C401G:p.P134R,ABCD4:NM_001353610:exon11:c.C401G:p.P134R,ABCD4:NM_020324:exon11:c.C713G:p.P238R,ABCD4:NM_001353595:exon12:c.C776G:p.P259R,ABCD4:NM_005050:exon12:c.C1190G:p.P397R,ABCD4:NM_020325:exon12:c.C1190G:p.P397R	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2056929	Methylmalonic_acidemia_with_homocystinuria,_type_cblJ	MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.828	0.379712862448	.	.	8.238e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs749168282	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.472e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	1.872e-05	0	1.799e-06	0	0	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.2	0.62015	M	-2.74	0.90735	D	-7.51	0.95074	D	0.879	0.87699	0.945	0.96321	D	0.992	0.99807	D	10	0.8563792	0.84836	D	0.379713	0.92942	D	0.828	0.94541	0.351	0.34922	0.986997563407	0.98685	0.858861411421415	0.85849	0.911145040712	0.71068	0.495827406645	0.38247	T	0.35438	0.72154	T	0.406988	0.90310	D	0.429699	0.93039	D	0.997445583343506	0.91570	D	0.861914	0.55630	D	0.8236793	0.85469	0.72134256	0.83546	0.8236793	0.85470	0.72134256	0.83547	-11.749	0.83607	D	.	.	0.777	0.76255	P	.	.	4.800817	0.77998	26.8	0.99844640210512225	0.92489	0.98104	0.79632	D	AEFGBCI	0.924341	0.90223	D	0.773431950494323	0.84421	8.282847	0.710794056593098	0.83198	7.959323	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	4.84	4.84	0.62125	9.294000	0.95180	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.569000	0.30626	0.0:0.0:1.0:0.0	18.139	0.89564	495	0.76383	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	35	chr14	74290428	.	G	C	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.976;DP=726;ExcessHet=0;FS=6.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.685;SOR=0.981	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr14	74292307	74292307	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353604:exon8:c.G309C:p.E103D,ABCD4:NM_001353607:exon8:c.G309C:p.E103D,ABCD4:NM_001353594:exon9:c.G786C:p.E262D,ABCD4:NM_001353597:exon9:c.G633C:p.E211D,ABCD4:NM_001353598:exon9:c.G621C:p.E207D,ABCD4:NM_001353601:exon9:c.G621C:p.E207D,ABCD4:NM_001353603:exon9:c.G309C:p.E103D,ABCD4:NM_001353606:exon9:c.G309C:p.E103D,ABCD4:NM_001353608:exon9:c.G309C:p.E103D,ABCD4:NM_001353591:exon10:c.G972C:p.E324D,ABCD4:NM_001353592:exon10:c.G972C:p.E324D,ABCD4:NM_001353593:exon10:c.G837C:p.E279D,ABCD4:NM_001353596:exon10:c.G684C:p.E228D,ABCD4:NM_001353599:exon10:c.G621C:p.E207D,ABCD4:NM_001353600:exon10:c.G621C:p.E207D,ABCD4:NM_001353602:exon10:c.G309C:p.E103D,ABCD4:NM_001353605:exon10:c.G309C:p.E103D,ABCD4:NM_001353609:exon10:c.G309C:p.E103D,ABCD4:NM_001353610:exon10:c.G309C:p.E103D,ABCD4:NM_020324:exon10:c.G621C:p.E207D,ABCD4:NM_001353595:exon11:c.G684C:p.E228D,ABCD4:NM_005050:exon11:c.G1098C:p.E366D,ABCD4:NM_020325:exon11:c.G1098C:p.E366D	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0313177043956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.490686	0.12061	N	0.793165	0.999999	0.08975	N	0.665	0.16292	N	-3.43	0.94388	D	-0.07	0.08033	N	0.12	0.11054	-0.3411	0.73812	T	0.673	0.88692	D	10	0.07790637	0.12351	T	0.031318	0.53429	D	0.323	0.64522	0.239	0.17065	0.748608232304	0.74633	0.655960036237651	0.65532	0.219960646079	0.24538	0.294814676046	0.09631	T	0.033863	0.23088	T	0.0693632	0.60772	D	-0.138141	0.60280	T	0.0512141905938633	0.05712	T	0.615438	0.23533	T	0.031086242	0.02887	0.04019059	0.04286	0.031086242	0.02886	0.04019059	0.04285	-3.285	0.13545	T	.	.	0.079	0.07083	B	.	.	0.788290	0.11583	8.177	0.98595107481243183	0.43427	0.15699	0.19039	N	AEFDGBI	0.107624	0.21436	N	-0.954098764595777	0.09601	0.4550979	-0.932303669504644	0.11334	0.5767865	0.997256478229083	0.35425	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.26	-0.118	0.12887	0.077000	0.14593	-1.066000	0.06436	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.617000	0.31819	0.0:0.2825:0.5348:0.1826	7.791	0.28287	491	0.76657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2053.33	90	chr14	74292307	.	C	G	2053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=1236;ExcessHet=0;FS=10.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.718;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1308:.	18	0	1	0
chr14	74300166	74300166	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353591:exon2:c.G141C:p.L47F,ABCD4:NM_001353592:exon2:c.G141C:p.L47F,ABCD4:NM_005050:exon2:c.G141C:p.L47F,ABCD4:NM_020325:exon2:c.G141C:p.L47F	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	360112	not_specified|Inborn_genetic_diseases|Methylmalonic_acidemia_with_homocystinuria,_type_cblJ	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.635	0.14285732486	0.0005	0.000998403	0.0006	9.641e-05	0.0002	0	0.0002	0.0008	0.0011	0.0012	0.0006209	96	154602	rs147446660	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0067	0.0060	0.0001	0.0002	0.0011	0	5.63e-05	0.0086	0.0003	0.0009	0.0021	0.0005	0.0005	0.0006	0.0004	0.0036	0.0004	0.0004	0.0023	0.0019	2.434e-05	0	0.0005	0.0009	0	0	0	0.0006	0.0024	0.0036	0.006	0.63226	D	0.008	0.67890	D	0.998	0.73220	D	0.981	0.75168	D	0.001193	0.39899	N	0.158012	0.997388	0.81001	D	1.73	0.44655	L	-3.64	0.95145	D	-3.0	0.67359	D	0.494	0.53445	0.570	0.91502	D	0.823	0.94044	D	10	0.035323203	0.01776	T	0.142857	0.82522	D	0.635	0.86027	0.66	0.79791	0.995713155787	0.99566	0.5605388446041493	0.55980	0.9082949663	0.70941	0.489047825336	0.37306	T	0.425643	0.93589	T	-0.103828	0.35792	T	0.0708179	0.74965	D	0.0762226017790259	0.09497	T	0.928807	0.73996	D	0.13454422	0.31257	0.12691249	0.30558	0.13454422	0.31257	0.12691249	0.30558	-4.619	0.32410	T	.	.	0.224	0.54116	B	.;.	.;.	3.304116	0.45370	22.1	0.99840903234902278	0.92143	0.11387	0.16600	N	AEFDBI	0.146883	0.27044	N	0.156077679935425	0.49100	3.114218	0.0409763992360276	0.41638	2.504903	0.992237264324619	0.32767	0.744818	0.98587	0	0.732433	0.95613	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.29	1.93	0.24985	-0.017000	0.12529	0.268000	0.16624	0.596000	0.33519	0.003000	0.16062	0.983000	0.30585	0.981000	0.58702	0.2631:0.4709:0.1867:0.0792	4.103	0.09493	445	0.79730	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.000000	0.002717	0.008772	0.000000	0.008621	0.012422	0.011364	0.02632	643.33	36	chr14	74300166	.	C	G	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.71;DP=730;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.56;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1039	18	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E	.	419	1038	61	4	0	69	0.0321678	.	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07895	3341.79	33	chr14	74358253	.	C	A	3341.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.542;DP=830;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.716;SOR=0.716	GT:AD:DP:GQ:PL	0/1:54,36:90:99:904,0,1610	16	0	3	0
chr14	74358722	74358722	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G1939A:p.A647T	.	409	1108	4	1	0	6	0.00270027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0100397103235	.	.	8.265e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs747084343	8.893e-06	9.577e-06	5.445e-06	1.238e-05	3.478e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	6.295e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.11770	T	0.087	0.40747	T	0.086	0.24919	B	0.012	0.16012	B	0.000451	0.44317	N	0.146689	0.562446	0.32224	D	0.255	0.09829	N	0.64	0.52867	T	-1.3	0.32590	N	0.093	0.07262	-1.0991	0.04202	T	0.064	0.26597	T	10	0.05412823	0.05713	T	0.01004	0.26102	T	0.047	0.12962	0.417	0.45709	0.0675242888579	0.06100	0.5511689088160042	0.55042	0.419241257786	0.42481	0.322721660137	0.13833	T	0.222349	0.58618	T	-0.307295	0.07988	T	-0.58233	0.14338	T	0.0350555183800831	0.02817	T	0.657934	0.26722	T	0.040601674	0.05827	0.059851978	0.11301	0.040601674	0.05826	0.059851978	0.11300	-3.322	0.14022	T	.	.	0.064	0.01577	B	.	.	0.063903	0.04739	1.368	0.91204952084420465	0.20461	0.27072	0.23174	N	AEFDBCI	0.116711	0.22894	N	-1.21083425740859	0.04840	0.219367	-1.26563125580028	0.04903	0.2324119	0.999970062109776	0.50053	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.28	-2.3	0.06399	1.280000	0.32807	0.160000	0.15395	-0.169000	0.11342	0.169000	0.23921	0.000000	0.08366	0.220000	0.22462	0.5469:0.0:0.4531:0.0	8.806	0.34100	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2541.33	33	chr14	74358722	.	G	A	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=853;ExcessHet=0;FS=3.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.394;SOR=0.955	GT:AD:DP:GQ:PL	0/1:116,106:222:99:2555,0,2747	18	0	1	0
chr14	74486431	74486431	C	T	exonic	NPC2	.	nonsynonymous SNV	NPC2:NM_001363688:exon2:c.G88A:p.V30M,NPC2:NM_001375440:exon2:c.G88A:p.V30M,NPC2:NM_006432:exon2:c.G88A:p.V30M	Niemann-pick disease, type C2, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	181440	Brain_atrophy|Seizure|Global_developmental_delay|Microcephaly|not_specified|Niemann-Pick_disease,_type_C2|not_provided	Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:CN169374|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.490	0.107051375347	0.0019	0.000998403	0.0031	0.0004	0.0019	0	0	0.0040	0.0078	0.0042	0.0014101	218	154602	rs151220873	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0013	0.0101	0.0092	0.0005	0.0010	0.0189	0	0	0.0124	0.0007	0.0029	0.0049	0.0013	0.0013	0.0013	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0003	0	0.0009	0.0193	0.0002	0	0.0136	0.0012	0.0014	0.0050	0.111	0.32929	T	0.112	0.37589	T	0.921	0.51088	P	0.667	0.53020	P	0.001644	0.00810	N	3.062020	1	0.08975	N	1.32	0.33002	L	-0.92	0.75108	T	-0.34	0.15178	N	0.694	0.69913	-0.5348	0.67360	T	0.323	0.69186	T	10	0.0055167973	0.00122	T	0.107051	0.78294	D	0.490	0.77720	.	.	0.419957187557	0.41612	0.4148785368595371	0.41403	1.05498303167	0.76294	0.248564392328	0.03618	T	0.164713	0.70663	T	-0.280629	0.10601	T	-0.17534	0.56954	T	0.0604724534897135	0.07243	T	0.768523	0.39806	T	0.15376896	0.34838	0.120965846	0.29188	0.15767485	0.35515	0.072921336	0.15786	-5.909	0.45512	T	0.34427084161464777	0.44184	0.123	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.142092	0.15295	11.74	0.98776408867178389	0.46049	0.02808	0.07534	N	AEFGBI	0.158835	0.28454	N	-0.980824699310848	0.09013	0.4248764	-1.20699484781859	0.05797	0.2772181	0.999999670044353	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.54	-7.82	0.01069	-1.967000	0.01598	-3.068000	0.03090	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0857:0.1184:0.3405:0.4555	4.464	0.11100	368	0.84463	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;.;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009635	0.005208	0.008152	0.005848	0.000000	0.017241	0.015432	0.003788	0.05263	1455.83	42	chr14	74486431	.	C	T	1455.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.048;DP=753;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.118;SOR=0.665	GT:AD:DP:GQ:PL	0/1:42,32:74:99:765,0,1138	17	0	2	0
chr14	74503338	74503338	A	G	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon33:c.T4769C:p.V1590A	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	702982	not_provided|Weill-Marchesani_syndrome|not_specified|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:CN169374|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	.	0.0072	0.00519169	0.0078	0.0037	0.0029	0.0016	0.0231	0.0101	0.0059	0.0025	0.0073996	1144	154602	rs139932140	0.0077	0.0078	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0027	0.0042	0.0143	0.0017	0.0197	0.0061	0.0079	0.0083	0.0024	0.0076	0.0076	0.0074	0.0077	0.0089	0.0072	0.0070	0.0083	0.0081	0.0035	0	0.0046	0.0181	0.0019	0.0204	0	0.0089	0.0085	0.0044	0.306	0.59928	T	0.004	0.74150	D	0.998	0.73220	D	0.984	0.76113	D	0.035284	0.24662	N	0.196582	0.751255	0.33931	D	2.75	0.80375	M	-2.78	0.90962	D	-3.08	0.63438	D	0.26	0.40063	0.493	0.90452	D	0.712	0.90097	D	10	0.007753551	0.00176	T	.	.	.	0.478	0.76946	.	.	0.854277263187	0.85287	0.6727523117228988	0.67213	0.185492764599	0.20855	0.51385974884	0.40762	T	0.625113	0.88306	D	-0.256432	0.13320	T	-0.133161	0.60704	T	0.0393886729870514	0.03581	T	0.49835	0.15781	T	0.19108286	0.40721	0.22328903	0.47203	0.15769148	0.35517	0.22328903	0.47202	-7.72	0.59147	D	.	.	0.300	0.64803	B	.;.	.;.	4.231892	0.64097	24.7	0.99790704479422643	0.87661	0.98868	0.87925	D	AEFGBI	0.893035	0.83056	D	0.524530978042677	0.68544	5.231956	0.496666300645407	0.67768	5.128522	0.999999667672732	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.38	4.25	0.49658	7.306000	0.78218	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.9265:0.0:0.0735:0.0	10.895	0.46224	279	0.89001	TB domain;TB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.040404	0.009511	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	3483.33	33	chr14	74503338	.	A	G	3483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=938;ExcessHet=0;FS=0.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.25;SOR=0.736	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1476	18	0	1	0
chr14	74552291	74552291	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon6:c.C1295T:p.P432L	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	.	132462	Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome|Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|Weill-Marchesani_syndrome_3|LTBP2-related_disorder|not_provided|Pseudoexfoliation_glaucoma	MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763|MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449|.|MedGen:C3661900|MONDO:MONDO:0008327,MedGen:C0206368,OMIM:177650	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0005	0.00219649	0.0019	0.0004	8.705e-05	0.0001	0	0.0011	0.0023	0.0085	0.0015782	244	154602	rs137854861	0.0010	0.0010	0.0008	0.0012	0.0077	0.0010	0.0009	0.0072	0.0070	0.0003	0.0006	3.826e-05	0	3.804e-05	0.0071	0.0006	0.0015	0.0077	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0002	0	0.0019	0.0003	0.0002	0	0.0068	0.0008	0.0005	0.0087	0.786	0.03235	T	0.175	0.30045	T	0.111	0.26235	B	0.011	0.15521	B	0.140672	0.18302	N	0.397320	0.999997	0.08975	N	1.275	0.32135	L	0.82	0.48142	T	-2.96	0.61722	D	0.66	0.79792	-1.0492	0.14621	T	0.082	0.32295	T	10	0.004658282	0.00098	T	.	.	.	0.086	0.25016	.	.	0.448696893172	0.44491	0.5296310797705625	0.52887	0.158631535098	0.17909	0.457526087761	0.32971	T	0.552772	0.84886	D	-0.447621	0.01166	T	-0.410485	0.32170	T	0.029442969772891	0.01904	T	0.79622	0.43953	T	0.049320247	0.08740	0.061357796	0.11835	0.053248297	0.10048	0.061040673	0.11723	-5.75	0.44136	T	.	.	0.081	0.12418	B	.;.	.;.	3.292165	0.45157	22.1	0.91778519781276557	0.21081	0.67916	0.33607	D	AEFDBHCI	0.362874	0.45197	N	-0.567106761961793	0.19950	1.048139	-0.466526081254271	0.23081	1.256938	0.999982259942032	0.51787	0.722319	0.85440	0	0.59043	0.45803	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	4.9	2.68	0.30839	4.905000	0.62982	7.197000	0.57788	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.2558:0.0:0.7442:0.0	9.475	0.38029	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	802.33	42	chr14	74552291	.	G	A	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=836;ExcessHet=0;FS=7.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.384;SOR=0.882	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr14	74723299	74723299	T	C	exonic	FCF1	.	nonsynonymous SNV	FCF1:NM_001318508:exon5:c.T284C:p.M95T,FCF1:NM_015962:exon5:c.T320C:p.M107T	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	.	0.0034	0.00299521	0.0032	0.0009	0.0035	0	0.0002	0.0038	0.0088	0.0042	0.0029883	462	154602	rs41309250	0.0033	0.0033	0.0031	0.0034	0.0227	0.0032	0.0031	0.0196	0.0184	0.0013	0.0037	0.0126	2.521e-05	0.0004	0.0227	0.0031	0.0043	0.0041	0.0026	0.0026	0.0026	0.0026	0.0041	0.0024	0.0023	0.0032	0.0030	0.0008	0.0022	0.0041	0.0164	0.0002	0.0002	0.0136	0.0030	0.0028	0.0041	0.001	0.78490	D	0.003	0.76473	D	0.578	0.38765	P	0.491	0.47360	P	0.000000	0.84330	D	0.034297	1	0.81001	D	4.105	0.97342	H	.	.	.	-4.38	0.77143	D	0.916	0.92433	0.000	0.82260	D	0.352	0.71565	T	9	0.014035612	0.00296	T	.	.	.	0.808	0.93777	.	.	0.554445276056	0.55104	0.8675315858643416	0.86718	0.352378940798	0.37072	0.92011320591	0.98333	D	0.341867	0.71071	T	0.170674	0.71186	D	0.472104	0.94055	D	0.0934561144212712	0.11621	T	0.824718	0.48674	T	0.69187886	0.77613	0.7310421	0.84107	0.69187886	0.77614	0.7310421	0.84108	-11.527	0.82471	D	.	.	0.684	0.87281	P	.;.;.;.	.;.;.;.	4.478352	0.69849	25.4	0.99389570068138555	0.62292	0.99038	0.90319	D	AEFBI	0.867479	0.78727	D	0.639598692048625	0.75696	6.352053	0.683779533525843	0.81146	7.45933	0.999999999956945	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	7.581000	0.81826	7.718000	0.67175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:0.0:1.0	16.609	0.84711	633	0.64743	.;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019737	0.015306	0.020380	0.049708	0.000000	0.008621	0.012346	0.003817	0.05263	2893.83	34	chr14	74723299	.	T	C	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.291;DP=837;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.959;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	133.47	34	chr14	74781778	.	C	G	133.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.956;DP=1954;ExcessHet=0.119;FS=161.502;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.74;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:121,0:121:0:.:.:0,0,1949:.	7	0	2	10
chr14	74781779	74781779	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1736G:p.P579R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.026397561712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.011	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999775	0.81001	D	.	.	.	.	.	.	-1.73	0.48523	N	0.652	0.66272	-0.5780	0.65696	T	0.312	0.68229	T	8	0.4610075	0.59284	T	0.026398	0.49309	D	0.121	0.33580	0.39	0.41279	0.123314135267	0.11883	0.4474048113735965	0.44658	0.119333337301	0.13438	0.809758782387	0.83456	D	0.018243	0.14740	T	-0.00786362	0.50564	T	-0.249072	0.49907	T	0.577931891752913	0.35539	D	0.787421	0.42665	T	0.25242773	0.48258	0.32784796	0.58679	0.25242773	0.48258	0.32784796	0.58678	-11.157	0.80512	D	.	.	0.528	0.65841	A	.;.	.;.	2.926139	0.38864	20.8	0.98555870954543157	0.42909	0.98429	0.82685	D	AEFGBI	0.446319	0.50243	N	0.636817590709346	0.75517	6.320194	0.648738560687963	0.78515	6.892166	0.99999999807232	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.660000	0.54234	5.848000	0.50311	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.0:0.9277:0.0:0.0723	14.092	0.64522	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	61.82	34	chr14	74781779	.	C	G	61.82	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.881;DP=1906;ExcessHet=0;FS=151.743;InbreedingCoeff=-0.1412;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.238;SOR=6.542	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:121,0:121:0:.:.:0,0,1949:.	11	0	1	7
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.020202	0.017663	0.038012	0.000000	0.086207	0.009146	0.007576	0.07895	4187.79	34	chr14	74809473	.	G	C	4187.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.69;DP=967;ExcessHet=0.3672;FS=0.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.035;SOR=0.729	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	16	0	3	0
chr14	74858480	74858480	T	G	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001243007:exon4:c.A1340C:p.K447T,PROX2:NM_001384314:exon5:c.A1340C:p.K447T	.	8	1503	11	0	0	11	0.00364601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.0326759135246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458233090	9.083e-06	8.893e-06	6.92e-06	1.129e-05	2.452e-05	5.07e-06	3.91e-06	4.62e-06	3.37e-06	0	0	0	0	0	0	9.13e-06	1.685e-05	2.452e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.103999	1	0.81001	D	.	.	.	0.38	0.57575	T	-5.5	0.85844	D	0.903	0.90363	-0.1392	0.79185	T	0.385	0.74047	T	10	0.8325588	0.82417	D	0.032676	0.54438	D	0.655	0.87035	0.357	0.35897	0.727978508315	0.72556	0.8226170539995037	0.82218	.	.	0.767907381058	0.77112	T	0.383096	0.74503	T	0.21867	0.75650	D	0.191283	0.82642	D	0.97449141740799	0.70532	D	0.994508	0.98160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.862	0.80432	P	.	.	4.671667	0.74675	26.2	0.99775609016454281	0.86260	0.98626	0.84855	D	AEFI	0.912740	0.87377	D	0.826236022616293	0.87716	9.31559	0.774778682448774	0.87990	9.417491	0.999999999999278	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.3	5.3	0.74745	8.017000	0.88732	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.263	0.73340	721	0.55360	Homeo-prospero domain|Homeo-prospero domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1091.33	33	chr14	74858480	.	T	G	1091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.676;DP=741;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.816;SOR=0.62	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	0	1	0
chr14	74863732	74863732	C	T	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001080408:exon3:c.G103A:p.D35N,PROX2:NM_001243007:exon3:c.G103A:p.D35N,PROX2:NM_001384314:exon4:c.G103A:p.D35N	.	8	1465	48	1	0	50	0.0167785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0015	0.0081869	0.0042	0.0002	0.0025	0	0.0003	0.0030	0.0064	0.0260	0.0039003	603	154602	rs180960227	0.0030	0.0031	0.0024	0.0036	0.0277	0.0029	0.0029	0.0240	0.0232	0.0005	0.0022	0.0188	5.103e-05	0.0002	0.0277	0.0014	0.0048	0.0246	0.0028	0.0028	0.0025	0.0031	0.0307	0.0026	0.0025	0.0267	0.0251	0.0003	0	0.0025	0.0205	0	9.413e-05	0.0102	0.0021	0.0028	0.0307	0.068	0.37750	T	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.338976	0.04176	N	1.430780	1	0.08975	N	0.69	0.16971	N	0.96	0.42888	T	0.15	0.05310	N	0.074	0.05414	-1.0060	0.28156	T	0.041	0.17742	T	10	0.0030384362	0.00050	T	.	.	.	0.068	0.19811	.	.	0.0806252709748	0.07271	0.11674413745717793	0.11602	0.0477391704432	0.05209	0.295686364174	0.09760	T	0.004913	0.04332	T	-0.733045	0.00023	T	-0.806148	0.01753	T	0.0037572367142395	0.00040	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.100	0.17103	B	.;.	.;.	1.610506	0.20578	14.81	0.99037930992716072	0.50962	0.11356	0.16580	N	AEFDI	0.065554	0.12793	N	-0.668780823610627	0.16916	0.8660086	-0.729438421252094	0.16230	0.857553	0.998840203693113	0.37800	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	1.79	0.23992	-0.021000	0.12445	0.693000	0.20782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6397:0.0:0.3603	6.912	0.23520	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.038012	0.000000	0.008621	0.009146	0.026515	0.02632	1872.33	33	chr14	74863732	.	C	T	1872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.45;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr14	74909984	74909984	C	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370252:exon7:c.G829A:p.A277T,RPS6KL1:NM_001370253:exon8:c.G784A:p.A262T,RPS6KL1:NM_031464:exon8:c.G829A:p.A277T	.	415	1072	34	1	0	36	0.0165138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00638978	0.0047	0.0002	0.0024	0.0001	0.0002	0.0034	0.0067	0.0188	0.0042496	657	154602	rs148670608	0.0029	0.0029	0.0024	0.0034	0.0274	0.0028	0.0028	0.0239	0.0226	0.0004	0.0024	0.0187	0.0004	0.0002	0.0274	0.0014	0.0043	0.0182	0.0026	0.0026	0.0024	0.0027	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0024	0.0205	0.0006	9.434e-05	0.0102	0.0021	0.0028	0.0224	0.126	0.27194	T	0.579	0.08535	T	0.002	0.09854	B	0.001	0.04355	B	0.473879	0.04941	N	1.302770	1	0.08975	N	0.55	0.14455	N	0.32	0.58468	T	-0.95	0.25332	N	0.092	0.08227	-1.0221	0.23031	T	0.103	0.37869	T	10	0.0029692352	0.00048	T	.	.	.	0.015	0.02232	.	.	0.506006782367	0.50240	0.16706468169507002	0.16626	0.159674078061	0.18017	0.290036141872	0.08927	T	0.002076	0.01480	T	-0.641258	0.00082	T	-0.678963	0.07047	T	0.00194524139961261	0.00020	T	0.346465	0.07620	T	0.027767	0.02015	0.039660048	0.04111	0.027767	0.02015	0.039660048	0.04111	-3.636	0.18379	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	-0.279271	0.02708	0.355	0.62731164246453697	0.07038	0.07838	0.13831	N	AEFDBI	0.087683	0.17779	N	-1.18298548075412	0.05257	0.239226	-1.16460723848425	0.06510	0.313568	0.997888244719528	0.36150	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	5.4	1.18	0.20058	-1.426000	0.02550	0.009000	0.13411	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0925:0.3138:0.4448:0.1489	3.758	0.08116	623	0.65786	Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.035088	0.000000	0.017241	0.009146	0.022727	0.02632	569.33	33	chr14	74909984	.	C	T	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=738;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.772;SOR=1.161	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1223	18	0	1	0
chr14	75047018	75047018	G	C	exonic	MLH3	.	nonsynonymous SNV	MLH3:NM_001040108:exon2:c.C2638G:p.L880V,MLH3:NM_014381:exon2:c.C2638G:p.L880V	Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	572911	Colorectal_cancer,_hereditary_nonpolyposis,_type_7|Endometrial_carcinoma|Colorectal_cancer|not_specified|not_provided	MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0743516055126	7.7e-05	.	0.0002	9.651e-05	0.0003	0	0	0.0001	0	0.0008	0.0001876	29	154602	rs201453923	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	8.961e-05	0.0002	0	0	1.872e-05	0.0003	0.0001	0.0002	0.0010	0.0001	0.0001	0.0001	9.413e-05	0.0002	6.51e-05	5.322e-05	7.907e-05	5.993e-05	4.825e-05	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.02	0.49613	D	0.024	0.56640	D	0.012	0.38740	B	0.03	0.39840	B	0.004819	0.33369	N	0.318768	1	0.81001	D	1.32	0.33002	L	-1.95	0.85703	D	-1.37	0.33998	N	0.085	0.11912	-0.2700	0.75811	T	0.463	0.79229	T	10	0.05520761	0.05999	T	0.074352	0.72020	D	0.227	0.52620	.	.	0.827719787499	0.82608	0.3669399409106945	0.36607	0.116146798241	0.13104	0.265467226505	0.05559	T	0.092541	0.39024	T	-0.392015	0.02611	T	-0.386319	0.34982	T	0.0459927804768085	0.04782	T	0.860814	0.55431	D	0.07914149	0.18064	0.089401215	0.20903	0.080603056	0.18478	0.08403193	0.19301	-4.123	0.25628	T	.	.	0.171	0.53656	B	.;.;.;.	.;.;.;.	1.852126	0.23531	16.05	0.98842444944605412	0.47152	0.61874	0.31612	D	AEFDBHCIJ	.	.	.	-0.135885120674496	0.35838	2.063596	-0.0703668726193166	0.36621	2.133578	0.999999748443071	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.696353	0.63694	0	0.704051	0.69138	0	.	.	5.92	3.76	0.42368	0.721000	0.25580	0.741000	0.21161	0.671000	0.69459	1.000000	0.71638	0.999000	0.35428	0.763000	0.36255	0.1193:0.0:0.2531:0.6276	6.507	0.21399	513	0.74941	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2594.33	34	chr14	75047018	.	G	C	2594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=999;ExcessHet=0;FS=5.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.569;SOR=0.431	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1288	18	0	1	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I,ZC2HC1C:NM_001330191:exon2:c.A59T:p.N20I,ZC2HC1C:NM_024643:exon2:c.A59T:p.N20I	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	550.33	33	chr14	75070632	.	A	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.235;DP=696;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.081;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P,ZC2HC1C:NM_001330191:exon2:c.G70C:p.A24P,ZC2HC1C:NM_024643:exon2:c.G70C:p.A24P	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	640.33	33	chr14	75070643	.	G	C	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=700;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.528;SOR=0.97	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr14	75280102	75280102	A	G	exonic	FOS	.	nonsynonymous SNV	FOS:NM_005252:exon2:c.A367G:p.I123V	.	419	1098	5	0	0	5	0.00227169	.	.	.	702993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0185950098786	0.0017	0.000399361	0.0019	0.0005	0.0022	0	0.0003	0.0028	0	0.0004	0.0018823	291	154602	rs150427794	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0025	0.0025	0.0002	0.0022	0.0004	0	0.0007	0.0007	0.0026	0.0018	0.0004	0.0014	0.0015	0.0015	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0.0099	0.0014	0	0	0.0006	0.0034	0.0024	0.0019	0.0004	1.0	0.50132	T	0.512	0.40110	T	0.325	0.33132	B	0.06	0.26717	B	0.034496	0.24763	N	0.478450	0.974789	0.26128	N	1.305	0.32671	L	0.01	0.62459	T	0.04	0.10480	N	0.116	0.24634	-0.9877	0.33175	T	0.089	0.34381	T	10	0.006703317	0.00152	T	0.018595	0.40717	T	0.089	0.25827	.	.	0.521601224155	0.51804	0.4501286118221632	0.44930	0.847945676173	0.68408	0.335579246283	0.15775	T	0.356804	0.72360	T	-0.372242	0.03483	T	-0.310841	0.43569	T	0.0568655694322877	0.06666	T	0.680532	0.32863	T	0.096452214	0.22719	0.0751653	0.16518	0.096452214	0.22719	0.0751653	0.16518	-4.648	0.32769	T	.	.	0.066	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	1.862423	0.23660	16.10	0.76366260339126835	0.11439	0.93739	0.59053	D	ALL	0.596552	0.59068	D	-0.0678395523550079	0.38809	2.278787	0.106953990171455	0.44903	2.763177	0.999999998386825	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.504199	0.09095	0	0.627883	0.49187	0	.	.	5.95	5.95	0.96415	1.316000	0.33226	6.841000	0.56715	0.756000	0.94297	0.915000	0.31815	1.000000	0.68203	0.951000	0.49849	0.8557:0.1443:0.0:0.0	12.002	0.52532	83	0.96533	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	2526.33	37	chr14	75280102	.	A	G	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=988;ExcessHet=0;FS=2.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.223;SOR=0.863	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1360	18	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.05263	1055.83	34	chr14	75437912	.	C	A	1055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.256;DP=624;ExcessHet=0.119;FS=3.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=1.96;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr14	75579105	75579105	G	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_017791:exon1:c.G133C:p.V45L	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00657782177536	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013248578	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.399	0.15059	T	0.0	0.02946	B	0.001	0.04355	B	0.084893	0.20672	N	0.451695	0.935306	0.26947	N	0.695	0.17993	N	1.57	0.29342	T	-0.5	0.15782	N	0.097	0.07811	-1.0787	0.07602	T	0.040	0.17106	T	10	0.07483441	0.11488	T	0.006578	0.17358	T	0.016	0.02506	0.214	0.13354	0.237489013734	0.23353	0.5081012930092472	0.50732	0.298065659197	0.32188	0.533498704433	0.43527	T	0.01594	0.13275	T	-0.28487	0.10158	T	-0.646973	0.09168	T	0.120119668543339	0.14442	T	0.70183	0.31167	T	0.04455234	0.07143	0.057172794	0.10345	0.04455234	0.07142	0.057172794	0.10345	-7.14	0.55049	T	.	.	0.107	0.20038	B	.	.	3.049178	0.40908	21.3	0.98910503825212426	0.48363	0.56772	0.30203	D	AEFDGBCI	0.147370	0.27102	N	-0.595436414015091	0.19082	0.9959463	-0.445078909191676	0.23689	1.293165	0.999999283146346	0.74766	0.652421	0.48094	0	0.475579	0.06741	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.29	2.46	0.29032	2.780000	0.47429	0.045000	0.13922	-0.120000	0.14102	0.986000	0.36153	0.000000	0.08366	0.886000	0.42526	0.1016:0.1901:0.7083:0.0	6.110	0.19317	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2578.33	34	chr14	75579105	.	G	C	2578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.088;DP=1899;ExcessHet=0;FS=5.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.664;SOR=0.429	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	18	0	1	0
chr14	75732398	75732398	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon13:c.A1103G:p.N368S	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0725481243937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.843e-06	1.365e-06	0	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	6.587e-06	6.574e-06	1.288e-05	0	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.014	0.63918	D	1.0	0.90584	D	0.997	0.88582	D	0.000011	0.62929	D	0.176387	0.999708	0.81001	D	4.42	0.98718	H	2.06	0.20523	T	-4.65	0.79399	D	0.875	0.90476	-0.0942	0.80232	T	0.279	0.65089	T	10	0.95966333	0.95361	D	0.072548	0.71561	D	0.569	0.82460	0.864	0.95995	0.521601224155	0.51804	0.8486780619406258	0.84828	0.346978378761	0.36595	0.690796256065	0.65821	T	0.329289	0.69961	T	0.0152819	0.53744	T	-0.215825	0.53137	T	0.99742032626122	0.91524	D	0.985401	0.95770	D	0.8677989	0.88688	0.8547836	0.91826	0.8677989	0.88689	0.8547836	0.91827	-12.213	0.85873	D	0.6608496746178677	0.73432	0.968	0.89634	P	.;.	.;.	4.867731	0.79722	27.2	0.99903310516497223	0.97426	0.97447	0.74808	D	AEFGBI	0.838717	0.75620	D	1.06409203593044	0.97410	16.08099	0.963155181042028	0.97779	16.74939	0.999999705018073	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	8.189000	0.89663	11.211000	0.89399	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.752	0.62397	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	198.33	33	chr14	75732398	.	A	G	198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.801;DP=730;ExcessHet=0;FS=75.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=0.39;SOR=5.889	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr14	75732400	75732400	C	T	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon13:c.C1105T:p.L369F	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0104308426716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.058	0.47097	T	0.929	0.56408	P	0.748	0.62758	P	0.000075	0.52346	D	0.176070	0.999988	0.81001	D	1.715	0.44382	L	3.12	0.08106	T	-3.72	0.70793	D	0.541	0.62018	-1.2194	0.00054	T	0.046	0.19760	T	10	0.53166413	0.63218	D	0.010431	0.26958	T	0.247	0.55478	0.643	0.78010	0.304760801415	0.30091	0.4280156079802924	0.42718	0.108449285946	0.12232	0.642384469509	0.58903	T	0.152919	0.49354	T	-0.00925248	0.50371	T	-0.251067	0.49712	T	0.98404586315155	0.75491	D	0.966503	0.92108	D	0.56298214	0.70674	0.5057473	0.71433	0.56298214	0.70676	0.5057473	0.71434	-12.301	0.86286	D	0.6512595278090534	0.72342	0.978	0.92685	P	.;.	.;.	4.806953	0.78165	26.8	0.99901149163747416	0.97275	0.93386	0.58078	D	AEFGBI	0.524821	0.54785	D	0.607778511166604	0.73665	6.003527	0.658907069635139	0.79274	7.048224	0.999999996251249	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	5.248000	0.65242	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.076	0.86461	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	155.33	33	chr14	75732400	.	C	T	155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.536;DP=729;ExcessHet=0;FS=56.963;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.804;SOR=5.279	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr14	75766134	75766134	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon20:c.A1781G:p.D594G	Cone-rod dystrophy 19, Autosomal recessive	418	1094	10	0	0	10	0.00454959	.	.	.	841796	Cone-rod_dystrophy_19|not_provided|TTLL5-related_disorder	MONDO:MONDO:0014372,MedGen:C4014501,OMIM:615860,Orphanet:1872|MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0228775727496	0.0002	0.000399361	0.0004	9.626e-05	8.685e-05	0	0	0.0002	0	0.0022	0.0003881	60	154602	rs148938066	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	8.961e-05	0.0003	0	0	0	0.0033	0.0002	0.0004	0.0019	0.0001	0.0001	0.0001	0.0001	0.0010	8.657e-05	7.25e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0010	0.027	0.72154	D	0.04	0.53788	D	0.449	0.47190	B	0.306	0.45080	B	0.858389	0.08913	N	0.941181	1	0.81001	D	0.69	0.16971	N	3.75	0.27331	T	-0.74	0.20791	N	0.264	0.32481	-1.0263	0.21658	T	0.084	0.32814	T	10	0.012062013	0.00261	T	0.022878	0.45806	T	0.086	0.25016	.	.	0.149567049428	0.14543	0.4038486818902882	0.40300	0.305461879015	0.32852	0.511074185371	0.40372	T	0.02169	0.31686	T	-0.389775	0.02700	T	-0.339445	0.40406	T	0.0438474885279839	0.04392	T	0.89911	0.64631	D	0.08833851	0.20604	0.08195424	0.18668	0.08833851	0.20604	0.08195424	0.18667	-4.18	0.26461	T	0.08822243107869802	0.05263	0.128	0.27613	B	.;.;.;.	.;.;.;.	3.284873	0.45021	22.1	0.99573810463738754	0.72561	0.98198	0.80457	D	AEFGBI	0.477439	0.52043	N	0.255832971853043	0.53927	3.559785	0.332699705668021	0.57470	3.912942	0.975617111670009	0.29649	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	4.964000	0.63410	6.244000	0.55301	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.988	0.58004	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1596.33	40	chr14	75766134	.	A	G	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.511;DP=849;ExcessHet=0;FS=2.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.627;SOR=0.548	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1460	18	0	1	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X,GPATCH2L:NM_001322026:exon7:c.C1084T:p.R362X	.	469	1019	30	4	0	38	0.0183044	.	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.030303	0.023098	0.023392	0.050000	0.008621	0.027439	0.015152	0.05263	1918.83	34	chr14	76177923	.	C	T	1918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.246;DP=785;ExcessHet=0.119;FS=3.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.71;SOR=0.439	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	2	0
chr14	77027437	77027472	TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.321_356del:p.Q116_Q127del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.667e-07	1.385e-06	0	1.554e-06	9.722e-07	0	0	.	.	0	0	0	0	0	0	9.722e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	617.29	50	chr14	77027436	.	CTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGT	C	617.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=798;ExcessHet=0;FS=3.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.78;SOR=1.609	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	18	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	11972.7	48	chr14	77027445	.	C	*	11972.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.061;DP=779;ExcessHet=2.8292;FS=0.667;InbreedingCoeff=-0.2723;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=27.59;ReadPosRankSum=-0.128;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:14,0:18:99:0|1:77027445_C_T:105,148,736:77027445	16	0	1	2
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12134.0	43	chr14	77027448	.	CTGT	*	12134.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=750;ExcessHet=1.7862;FS=0.675;InbreedingCoeff=-0.0523;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.83;ReadPosRankSum=-0.128;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:14,0:18:99:0|1:77027445_C_T:105,148,736:77027445	18	0	1	0
chr14	77027472	77027472	T	0	exonic	IRF2BPL	.	.	.	.	430	1009	45	5	33	88	0.0265316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	578.96	31	chr14	77027472	.	T	*	578.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=448;ExcessHet=0.3672;FS=2.396;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.026;SOR=1.118	GT:AD:DP:GQ:PL	0/0:17,0:17:30:0,30,450	18	0	1	0
chr14	77027530	77027532	GCT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.261_263del:p.A102del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3368	.	0.0019	0	0	0	0	0.0027	0	0.0018	3.84e-05	1	26028	rs761143271	0.0007	0.0023	0.0006	0.0007	0.0012	0.0006	0.0006	0.0007	0.0006	0.0002	0.0007	0.0002	0.0012	0.0011	0	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0	0	0	0	0	0.0001	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259843	0.274390	0.238024	0.232258	0.250000	0.330189	0.282609	0.295082	0.02632	376.29	27	chr14	77027529	.	CGCT	C	376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.247;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=0.49;SOR=1.112	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,750	18	0	1	0
chr14	77027532	77027532	T	0	exonic	IRF2BPL	.	.	.	.	509	314	466	222	11	921	0.591678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7179.38	31	chr14	77027532	.	T	*	7179.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=480;ExcessHet=4.2649;FS=3.574;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.175;SOR=1.1	GT:AD:DP:GQ:PL	0/0:17,0:25:99:225,277,938	18	0	1	0
chr14	77377701	77377701	G	T	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.G283T:p.V95L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00102823808556	.	.	8.258e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs769124850	2.736e-06	2.736e-06	0	5.5e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.773	0.04431	T	0.0	0.02946	B	0.0	0.01387	B	0.845987	0.07028	N	1.133610	1	0.08975	N	-0.895	0.01383	N	2.64	0.12780	T	0.57	0.02638	N	0.03	0.00717	-0.9647	0.38270	T	0.010	0.03719	T	10	0.023602426	0.00622	T	0.001028	0.01144	T	0.004	0.00165	0.115	0.02372	0.0297737177859	0.01360	0.01905071136619596	0.01859	0.0722180226617	0.08101	0.220578178763	0.01344	T	0.002185	0.01585	T	-0.5062	0.00528	T	-0.868043	0.00761	T	0.0696382324983321	0.08601	T	0.454055	0.12934	T	0.04310899	0.06659	0.04342762	0.05401	0.04310899	0.06659	0.04342762	0.05400	-2.446	0.05423	T	.	.	0.122	0.25462	B	.	.	-1.091740	0.00650	0.018	0.76576673664746109	0.11524	0.00718	0.03028	N	AEFDGBCI	0.027853	0.02349	N	-1.78072187354117	0.00594	0.02559729	-1.80752141793615	0.00735	0.03277417	0.999999907035719	0.74766	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.404113	0.06833	1	.	.	4.39	-5.68	0.02240	-1.863000	0.01744	-2.554000	0.03615	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3324:0.147:0.1169:0.4038	0.985	0.01354	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1880.33	120	chr14	77377701	.	G	T	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=1537;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-1.031;SOR=0.551	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.035354	0.021739	0.035088	0.050000	0.034483	0.006098	0.000000	0.02632	2679.33	34	chr14	77407535	.	C	T	2679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=781;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.196;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	18	0	1	0
chr14	77710840	77710840	C	A	exonic	SLIRP	.	nonsynonymous SNV	SLIRP:NM_001267863:exon2:c.C100A:p.Q34K,SLIRP:NM_001267864:exon2:c.C100A:p.Q34K,SLIRP:NM_031210:exon2:c.C100A:p.Q34K	.	.	.	.	.	.	.	.	.	.	.	4078591	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.15677159102	.	.	3.296e-05	0	0	0	0	4.497e-05	0	6.057e-05	2.59e-05	4	154602	rs369851843	4.652e-05	4.652e-05	3.948e-05	5.363e-05	0.0002	3.728e-05	3.411e-05	0.0001	9.45e-05	0	2.236e-05	0	0	0	0.0002	4.317e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.004	0.68238	D	0.009	0.66756	D	0.37	0.34076	B	0.128	0.32786	B	0.000059	0.53742	D	0.122940	0.746	0.33870	D	0.585	0.15399	N	2.38	0.85320	T	-1.18	0.44284	N	0.201	0.25622	-0.2483	0.76405	T	0.380	0.73714	T	10	0.22682074	0.39546	T	0.156772	0.83748	D	0.153	0.40148	0.551	0.66716	0.745210144403	0.74292	0.4859175198212696	0.48511	0.180147681555	0.20266	0.376862972975	0.21810	T	0.010103	0.30711	T	-0.143098	0.29397	T	-0.151178	0.59139	T	0.123438532477321	0.14763	T	0.878612	0.59716	D	0.19272989	0.40954	0.21041594	0.45428	0.19272989	0.40954	0.21041594	0.45427	-5.181	0.38840	T	.	.	0.354	0.65850	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.217169	0.43821	21.8	0.95981485113968468	0.28360	0.83927	0.43017	D	AEFBCI	0.656356	0.62837	D	-0.321616131445425	0.28329	1.561601	-0.207881881628357	0.31252	1.766907	0.999998767576955	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.72	3.83	0.43287	5.403000	0.66083	7.133000	0.57630	-0.361000	0.05505	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:0.1459:0.8541:0.0	15.451	0.74999	813	0.42397	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr14	77710840	.	C	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.967;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.632;SOR=0.614	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr14	78243218	78243218	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon2:c.G125A:p.R42H,NRXN3:NM_001366425:exon2:c.G125A:p.R42H,NRXN3:NM_001366426:exon2:c.G125A:p.R42H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	.	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0004	5.17e-05	8	154602	rs543377338	6.732e-05	6.567e-05	4.248e-05	9.274e-05	0.0023	5.613e-05	5.209e-05	0.0013	0.0011	9.345e-05	0	0	0	0	0.0023	3.866e-05	3.418e-05	0.0004	7.221e-05	7.218e-05	5.139e-05	9.397e-05	0.0010	3.968e-05	3.125e-05	0.0004	0.0003	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0010	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.85343	-0.3801	0.72648	T	0.407	0.75670	T	4	0.36260733	0.52852	T	.	.	.	.	.	.	.	.	.	0.540260018613481	0.53951	.	.	.	.	.	0.080206	0.36309	T	.	.	.	.	.	.	.	.	.	0.968603	0.89491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.54012	B	.;.	.;.	5.269065	0.88470	29.6	0.99895226352096445	0.96819	0.99276	0.93823	D	AEFBI	0.917590	0.88543	D	0.578539163703091	0.71835	5.711911	0.685377303386574	0.81268	7.487139	0.999999999999681	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	10.003000	0.99689	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.334	0.98733	555	0.71762	Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	41	chr14	78243218	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.429;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/0:100,37:155:17:0,17,1664	10	0	9	0
chr14	80831291	80831291	A	G	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon13:c.T1061C:p.V354A	.	429	1061	30	2	0	34	0.0157699	.	.	.	3409323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0080	0.00479233	0.0087	0.0019	0.0046	0.0005	0.0133	0.0108	0.0165	0.0093	0.0086868	1343	154602	rs116610923	0.0099	0.0099	0.0097	0.0101	0.0144	0.0098	0.0097	0.0119	0.0110	0.0014	0.0055	0.0427	0.0002	0.0136	0.0144	0.0097	0.0108	0.0098	0.0083	0.0084	0.0081	0.0086	0.0101	0.0080	0.0078	0.0095	0.0092	0.0019	0.0121	0.0064	0.0398	0.0010	0.0159	0.0034	0.0101	0.0161	0.0096	0.233	0.18122	T	0.694	0.15842	T	0.07	0.28604	B	0.033	0.28749	B	0.778391	0.06639	N	1.123640	1	0.08975	N	2.35	0.67516	M	-1.68	0.82897	D	-1.54	0.37759	N	0.136	0.13341	-0.8703	0.50506	T	0.221	0.58447	T	10	0.0028569698	0.00046	T	.	.	.	0.133	0.36157	.	.	0.431490205687	0.42766	0.1071860755672296	0.10648	0.0872170949531	0.09831	0.254053235054	0.04207	T	0.017587	0.14320	T	-0.385214	0.02887	T	-0.313785	0.43250	T	0.00628282384006659	0.00070	T	0.470053	0.13899	T	0.069137566	0.15121	0.040128335	0.04266	0.069137566	0.15121	0.040128335	0.04266	-2.893	0.09074	T	.	.	0.104	0.22464	B	.;.;.	.;.;.	0.471155	0.08407	5.163	0.92020508935990841	0.21358	0.00735	0.03077	N	AEFI	0.022660	0.01162	N	-0.868447548759972	0.11598	0.5606108	-0.862676048706051	0.12983	0.6709991	0.00159392376557499	0.08681	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.61	0.288	0.14969	0.795000	0.26632	1.054000	0.23662	-0.107000	0.15377	0.759000	0.29231	0.000000	0.08366	0.346000	0.25568	0.3749:0.0:0.4568:0.1684	4.797	0.12644	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.005848	0.050000	0.017241	0.012195	0.011364	0.07895	5477.77	35	chr14	80831291	.	A	G	5477.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.23;DP=897;ExcessHet=0;FS=4.061;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=-0.77;SOR=0.987	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	17	1	1	0
chr14	80914338	80914338	G	A	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon4:c.C218T:p.A73V	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.0147764	0.0064	0.0003	8.639e-05	0.0861	0	4.496e-05	0.0011	0.0013	0.0059167	154	26028	rs116769859	0.0024	0.0024	0.0024	0.0024	0.0753	0.0023	0.0023	0.0730	0.0721	0.0001	8.948e-05	0	0.0753	0	0.0003	4.68e-05	0.0049	0.0015	0.0028	0.0028	0.0025	0.0031	0.0724	0.0026	0.0025	0.0663	0.0639	0.0003	0	0.0010	0	0.0724	0	0	7.357e-05	0.0028	0.0023	0.253	0.21385	T	0.839	0.35840	T	0.987	0.67487	D	0.511	0.51677	P	0.001448	0.38980	N	0.164905	0.642855	0.32892	D	2.095	0.58118	M	1.49	0.45636	T	-1.37	0.74051	N	0.518	0.54845	-1.1257	0.01999	T	0.005	0.01833	T	10	0.0017378628	0.00022	T	.	.	.	0.167	0.42761	.	.	0.481246930725	0.47757	0.30553347982225343	0.30466	0.270010930718	0.29521	0.387776076794	0.23356	T	0.018784	0.19745	T	-0.386678	0.02826	T	-0.263982	0.48426	T	0.0160130281826876	0.00382	T	0.844016	0.53499	T	0.1275285	0.29840	0.12514852	0.30158	0.1275285	0.29839	0.12514852	0.30157	-6.63	0.54861	T	.	.	0.136	0.35643	B	.;.;.;.;.;.	.;.;.;.;.;.	6.567606	0.95415	35	0.99835602125602085	0.91714	0.94943	0.62871	D	AEFBI	0.622607	0.60687	D	0.202500772861817	0.51319	3.314201	0.321120566769074	0.56782	3.842172	0.99088673739326	0.32301	0.660377	0.49826	0	0.588015	0.36545	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.15	5.15	0.70287	5.989000	0.70262	11.718000	0.94767	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.903	0.79182	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1311.33	41	chr14	80914338	.	G	A	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=773;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=1.86;SOR=0.453	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	18	0	1	0
chr14	81142975	81142975	T	C	exonic	TSHR	.	nonsynonymous SNV	TSHR:NM_000369:exon10:c.T917C:p.M306T	Hyperthyroidism, familial gestational;Hyperthyroidism, nonautoimmune, Autosomal dominant, Isolated cases;Hypothyroidism, congenital, nongoitrous, 1, Autosomal recessive;Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0100611740753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.41	0.14544	T	.	.	.	.	.	.	0.027278	0.25783	N	0.474778	0.999777	0.20412	N	.	.	.	-0.82	0.74053	T	-0.42	0.14193	N	0.065	0.03726	-1.0041	0.28725	T	0.144	0.46678	T	10	0.12166849	0.23068	T	0.010061	0.26146	T	0.124	0.34239	0.398	0.42590	0.922305557511	0.92152	0.5340314348098646	0.53328	0.175392714489	0.19744	0.34564614296	0.17279	T	.	.	.	-0.131476	0.31259	T	-0.426633	0.30318	T	0.159987360239029	0.17871	T	0.358764	0.08201	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.13409	B	.;.	.;.	1.557713	0.19955	14.52	0.79299342367129699	0.12679	0.66196	0.32995	D	AEFDIJ	0.250369	0.37043	N	-0.469883090608924	0.23071	1.236397	-0.245108583968842	0.29939	1.681554	0.888896469303304	0.25800	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	1.978000	0.40221	3.364000	0.37882	0.665000	0.62972	0.369000	0.25916	0.710000	0.26286	0.808000	0.38083	0.1255:0.0:0.1465:0.728	8.105	0.30042	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2174.81	37	chr14	81142975	.	T	C	2174.81	.	AC=2;AF=0.053;AN=38;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.46;SOR=1.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	1	0	0
chr14	81277486	81277486	C	T	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon6:c.G1825A:p.A609T,STON2:NM_001366850:exon6:c.G1825A:p.A609T,STON2:NM_001366849:exon7:c.G1996A:p.A666T	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00946776456719	0.0002	0.000199681	0.0003	0	0.0003	0	0.0003	0.0002	0	0.0007	0.0002329	36	154602	rs148802472	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0	0.0004	0	0	0.0002	0.0007	0.0001	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	2.407e-05	0	0.0003	0	0	9.439e-05	0	0.0002	0	0.0010	0.076	0.34269	T	0.222	0.25748	T	1.0	0.90584	D	0.991	0.79672	D	0.000006	0.62929	D	0.063748	0.994397	0.42266	D	1.15	0.29295	L	2.16	0.19166	T	-0.96	0.25551	N	0.576	0.60579	-1.1169	0.02538	T	0.100	0.37162	T	10	0.1100432	0.20554	T	0.009468	0.24809	T	0.188	0.46444	.	.	0.158540857583	0.15491	0.5288239456696335	0.52806	0.296238709019	0.32010	0.417704939842	0.27522	T	0.01455	0.12369	T	-0.33214	0.05950	T	-0.35071	0.39124	T	0.059877510913579	0.07149	T	0.915608	0.69895	D	0.06624071	0.14235	0.11818139	0.28530	0.06624071	0.14235	0.11818139	0.28529	-6.269	0.48477	T	.	.	0.160	0.38800	B	.;.;.;.	.;.;.;.	3.379765	0.46740	22.3	0.99889674181448629	0.96436	0.95776	0.66105	D	AEFDBIJ	0.419976	0.48699	N	0.533753556682291	0.69101	5.309172	0.559462369662244	0.72057	5.750394	0.999999980070458	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	3.723000	0.54682	5.972000	0.52016	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	20.279	0.98503	586	0.69252	.;.;.;Mu homology domain|Mu homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1901.33	33	chr14	81277486	.	C	T	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=987;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.159;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	18	0	1	0
chr14	81277710	81277710	T	C	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon6:c.A1601G:p.N534S,STON2:NM_001366850:exon6:c.A1601G:p.N534S,STON2:NM_001366849:exon7:c.A1772G:p.N591S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00498095861907	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247887777	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.325	0.18846	T	0.065	0.23521	B	0.01	0.14941	B	0.012733	0.29074	N	0.370235	0.968842	0.25782	N	0.345	0.11182	N	2.74	0.11730	T	-1.94	0.49519	N	0.07	0.04426	-0.9953	0.31218	T	0.018	0.07612	T	10	0.11210239	0.21016	T	0.004981	0.12566	T	0.070	0.20419	0.455	0.51938	0.123314135267	0.11883	0.12203131957384818	0.12130	0.0827273509579	0.09334	0.299186468124	0.10280	T	0.01872	0.15043	T	-0.433526	0.01412	T	-0.763653	0.02983	T	0.0427731751996156	0.04196	T	0.904909	0.66542	D	0.07787153	0.17701	0.088299885	0.20580	0.07787153	0.17701	0.088299885	0.20580	-4.978	0.36600	T	.	.	0.055	0.00553	B	.;.;.;.	.;.;.;.	1.235582	0.16305	12.46	0.80109914453132158	0.13049	0.45853	0.27630	N	AEGBI	0.169875	0.29674	N	-0.669843954429458	0.16884	0.8641843	-0.579433578627167	0.20030	1.07733	0.997232308530189	0.35404	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.91	0.045	0.13548	1.384000	0.34003	0.079000	0.14366	0.665000	0.62972	0.539000	0.27259	0.009000	0.19889	0.995000	0.73285	0.0:0.2869:0.0:0.7131	11.093	0.47346	586	0.69252	.;.;.;Stonin homology	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	33	chr14	81277710	.	T	C	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=1115;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.459;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1277	18	0	1	0
chr14	87934749	87934749	C	T	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon16:c.G1972A:p.V658M,GALC:NM_000153:exon17:c.G2041A:p.V681M,GALC:NM_001201402:exon17:c.G1963A:p.V655M	Krabbe disease, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	YES	204567	Inborn_genetic_diseases|not_provided|Galactosylceramide_beta-galactosidase_deficiency|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.714	0.305239335284	.	0.000199681	0.0002	0	0.0002	0.0008	0	3.003e-05	0	0.0006	0.0001358	21	154602	rs200607029	7.529e-05	7.524e-05	7.083e-05	7.98e-05	0.0007	6.385e-05	5.942e-05	0.0006	0.0005	0	0	7.667e-05	0.0004	0	0	1.979e-05	0.0002	0.0007	7.229e-05	7.219e-05	5.144e-05	9.408e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	5.884e-05	0.0005	0.0008	0.002	0.72154	D	0.004	0.76473	D	0.998	0.73220	D	0.976	0.73562	D	0.000654	0.42656	D	0.218759	0.931983	0.81001	D	2.945	0.84822	M	-3.56	0.94869	D	-1.88	0.43906	N	0.79	0.78641	1.005	0.97279	D	0.898	0.96615	D	10	0.63925993	0.68961	D	0.305239	0.91012	D	0.714	0.89831	0.636	0.77251	0.955291583424	0.95482	0.879927747788902	0.87960	0.58156249449	0.53951	0.380543738604	0.22333	T	0.843247	0.96363	D	0.174935	0.71576	D	0.417908	0.92677	D	0.189370686986006	0.19807	T	0.908709	0.67605	D	0.1294474	0.30233	0.17459469	0.39867	0.123469144	0.28990	0.19273944	0.42803	-6.612	0.53358	T	0.4220926189515186	0.51071	0.251	0.54933	B	.;.;.	.;.;.	4.145771	0.62150	24.4	0.9987529649400313	0.95244	0.65539	0.32771	D	AEFI	0.089598	0.18161	N	0.647091159752438	0.76180	6.439229	0.572622235894489	0.72983	5.896808	0.755474310927353	0.23426	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.6	4.69	0.58546	1.532000	0.35634	2.058000	0.30379	0.599000	0.40250	0.825000	0.30060	0.965000	0.29475	0.451000	0.27917	0.0:0.8488:0.0:0.1512	10.701	0.45123	904	0.23766	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1028.33	34	chr14	87934749	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=716;ExcessHet=0;FS=3.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.05;SOR=1.083	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	18	0	1	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	417.72	34	chr14	87947880	.	T	G	417.72	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.843;DP=647;ExcessHet=1.3;FS=151.533;InbreedingCoeff=-0.2114;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=2.84;SOR=8.318	GT:AD:DP:GQ:PL	0/1:23,10:33:80:80,0,455	11	0	5	3
chr14	88186085	88186085	C	T	exonic	KCNK10	.	nonsynonymous SNV	KCNK10:NM_021161:exon7:c.G1067A:p.R356Q,KCNK10:NM_138317:exon7:c.G1082A:p.R361Q,KCNK10:NM_138318:exon7:c.G1082A:p.R361Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0672014208927	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	1.165e-05	1.163e-05	1.636e-05	6.888e-06	1.529e-05	7.1e-06	5.8e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.009	0.72154	D	0.03	0.54541	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.895	0.50365	L	1.87	0.24085	T	-1.38	0.34992	N	0.598	0.73735	-0.9661	0.37994	T	0.154	0.48498	T	10	0.5847863	0.66049	D	0.067201	0.70098	D	0.181	0.45247	0.448	0.50793	0.841867993154	0.84036	0.8821084186382359	0.88178	1.27774408166	0.82447	0.824994802475	0.85796	D	0.013926	0.11951	T	0.0632996	0.60027	T	-0.146851	0.59523	T	0.953217446804047	0.63974	D	0.969603	0.89085	D	0.3329631	0.55712	0.25692624	0.51400	0.3329631	0.55712	0.25692624	0.51399	-9.591	0.72231	D	.	.	0.819	0.78186	P	.;.;.	.;.;.	5.432486	0.90832	32	0.99937068285316621	0.99661	0.98410	0.82490	D	AEFBI	0.942235	0.94655	D	0.804129648384711	0.86363	8.861625	0.810283645641501	0.90501	10.43538	0.999999999999968	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	7.885000	0.85782	7.583000	0.61020	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	18.941	0.92578	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.33	54	chr14	88186085	.	C	T	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=765;ExcessHet=0;FS=62.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=-0.557;SOR=4.97	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	88468248	88468248	T	G	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon19:c.A3414C:p.R1138S	.	412	1088	19	3	0	25	0.0113585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0018	0.00419329	0.0037	0.0005	0.0008	0.0003	0	0.0023	0.0055	0.0165	0.0034346	531	154602	rs151002751	0.0032	0.0032	0.0027	0.0036	0.0145	0.0031	0.0031	0.0138	0.0136	0.0004	0.0008	0.0001	0.0004	0.0002	0.0055	0.0028	0.0027	0.0145	0.0021	0.0021	0.0018	0.0023	0.0154	0.0019	0.0018	0.0126	0.0115	0.0005	0	0.0007	0	0.0006	0.0002	0.0034	0.0029	0.0024	0.0154	0.045	0.40832	D	0.564	0.08991	T	0.32	0.32998	B	0.129	0.32841	B	0.000172	0.48594	D	0.169817	0.550628	0.31337	N	0.765	0.19305	N	2.65	0.12676	T	-1.61	0.38734	N	0.525	0.55453	-1.0206	0.23519	T	0.034	0.14813	T	10	0.009127945	0.00206	T	.	.	.	0.180	0.45073	0.549	0.66436	0.470730462751	0.46701	.	.	0.540124399563	0.51215	0.39466765523	0.24325	T	0.140534	0.47512	T	-0.339958	0.05391	T	-0.248129	0.50001	T	0.0201140731745783	0.00712	T	0.848915	0.53103	T	0.13260892	0.30873	0.087263756	0.20272	0.13260892	0.30873	0.087263756	0.20272	-3.114	0.11457	T	.	.	0.252	0.48695	B	.;.	.;.	2.381893	0.30579	18.48	0.97150366557946433	0.32581	0.83105	0.42251	D	AEFDBI	0.201898	0.32852	N	-0.246728932481516	0.31234	1.749353	-0.181199872314905	0.32228	1.831476	0.999977264098003	0.50053	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.05	2.56	0.29842	0.991000	0.29255	0.888000	0.22449	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.913000	0.44837	0.0:0.1952:0.1698:0.635	4.386	0.10751	652	0.62785	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.002717	0.011696	0.000000	0.008621	0.006098	0.034091	0.05263	1924.83	39	chr14	88468248	.	T	G	1924.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=752;ExcessHet=0.119;FS=0.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.582;SOR=0.766	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	17	0	2	0
chr14	88596758	88596758	C	T	exonic	ZC3H14	.	nonsynonymous SNV	ZC3H14:NM_207662:exon2:c.C410T:p.S137F,ZC3H14:NM_001326300:exon9:c.C839T:p.S280F,ZC3H14:NM_001326302:exon9:c.C839T:p.S280F,ZC3H14:NM_001326304:exon9:c.C839T:p.S280F,ZC3H14:NM_001326308:exon9:c.C839T:p.S280F,ZC3H14:NM_001160103:exon10:c.C1304T:p.S435F,ZC3H14:NM_001160104:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326295:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326297:exon10:c.C1202T:p.S401F,ZC3H14:NM_001326310:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326315:exon10:c.C1202T:p.S401F,ZC3H14:NM_001326316:exon10:c.C1202T:p.S401F,ZC3H14:NM_024824:exon10:c.C1304T:p.S435F,ZC3H14:NM_207661:exon10:c.C1202T:p.S401F	Mental retardation, autosomal recessive 56, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	208135	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.204	.	0.0030	0.00159744	0.0044	0.0003	0.0003	0	0.0166	0.0057	0.0121	0.0015	0.0040103	620	154602	rs45518831	0.0032	0.0032	0.0032	0.0032	0.0031	0.0031	0.0031	0.0030	0.0029	0.0003	0.0007	0.0002	2.52e-05	0.0172	0.0002	0.0031	0.0031	0.0016	0.0037	0.0037	0.0030	0.0043	0.0044	0.0034	0.0033	0.0040	0.0039	0.0004	0	0.0018	0.0003	0	0.0184	0	0.0044	0.0028	0.0012	0.004	0.91255	D	0.007	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000254	0.46924	D	0.194491	0.998653	0.81001	D	1.955	0.52871	M	.	.	.	-2.95	0.61580	D	0.609	0.70351	-0.3008	0.74963	T	0.315	0.68477	T	9	0.0072610974	0.00165	T	.	.	.	0.502	0.78475	.	.	0.0934897674506	0.08844	0.6433847406967917	0.64273	1.52902459081	0.87555	0.476905703545	0.35630	T	0.330058	0.70030	T	-0.265999	0.12206	T	-0.148892	0.59342	T	0.0195768547671798	0.00660	T	0.959104	0.84591	D	0.2601642	0.49071	0.2638511	0.52196	0.2925791	0.52231	0.22468413	0.47388	-7.723	0.67948	D	.	.	0.286	0.73305	B	.;.;.;.;.;.	.;.;.;.;.;.	4.103373	0.61201	24.3	0.99743440193931765	0.83703	0.93663	0.58837	D	AEFDBI	0.335765	0.43410	N	0.233856914346047	0.52846	3.456332	0.208337265095919	0.50309	3.224359	0.998873005664723	0.37868	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.68	4.79	0.60909	1.644000	0.36844	4.876000	0.45617	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8475:0.1525:0.0	13.883	0.63192	819	0.41190	.;.;.;.;.;.	.	.	.	.	rs45518831	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1389.33	33	chr14	88596758	.	C	T	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=757;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.074;SOR=0.914	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1419	18	0	1	0
chr14	88665445	88665445	C	T	exonic	EML5	.	nonsynonymous SNV	EML5:NM_001385116:exon22:c.G3169A:p.V1057I,EML5:NM_183387:exon22:c.G3169A:p.V1057I	.	.	.	.	.	.	.	.	.	.	.	2763469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.015668943788	.	.	3.317e-05	0	0	0	0	4.5e-05	0.0011	0	2.59e-05	4	154602	rs779543531	7.115e-05	7.251e-05	7.487e-05	6.739e-05	8.724e-05	5.981e-05	5.589e-05	7.311e-05	6.722e-05	0	6.708e-05	0	0	0	0	8.724e-05	3.313e-05	2.319e-05	4.599e-05	4.596e-05	3.854e-05	5.38e-05	5.879e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	4.826e-05	0	0	0	0	9.418e-05	0	5.879e-05	0	0	0.114	0.28900	T	0.091	0.40110	T	0.928	0.77913	P	0.556	0.81110	P	0.000001	0.84330	D	0.000000	0.999988	0.54805	D	1.72	0.44442	L	0.92	0.44461	T	-0.68	0.19509	N	0.658	0.66787	-0.8608	0.51205	T	0.217	0.57928	T	10	0.5751962	0.65540	D	0.015669	0.36531	T	0.105	0.29889	.	.	0.380223377699	0.37629	.	.	0.763082505257	0.64369	0.598352015018	0.52672	T	0.029958	0.21349	T	-0.193942	0.21683	T	-0.324678	0.42059	T	0.381060987710953	0.28223	T	0.884911	0.60954	D	0.16576341	0.36868	0.1695122	0.38990	0.16576341	0.36868	0.1695122	0.38990	-3.999	0.25216	T	.	.	0.106	0.19760	B	.;.	.;.	4.615312	0.73231	26.0	0.99833373676942005	0.91456	0.97855	0.77635	D	AEFI	0.859196	0.77682	D	0.66313768868708	0.77221	6.63332	0.697245951712862	0.82169	7.701057	0.999999834826819	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	7.568000	0.81546	4.847000	0.45339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.981	0.92733	797	0.45241	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	33	chr14	88665445	.	C	T	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=707;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.909;SOR=0.441	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R,TTC8:NM_001366536:exon3:c.A254G:p.K85R,TTC8:NM_001288781:exon4:c.A254G:p.K85R,TTC8:NM_144596:exon4:c.A284G:p.K95R,TTC8:NM_198309:exon4:c.A254G:p.K85R,TTC8:NM_198310:exon4:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	0	1473	45	4	0	53	0.0176726	.	.	.	193761	not_provided|Bardet-Biedl_syndrome_8|not_specified|Retinitis_pigmentosa|Bardet-Biedl_syndrome	MedGen:C3661900|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.025253	0.012228	0.017544	0.050000	0.000000	0.006098	0.022727	0.07895	16866.8	33	chr14	88840883	.	A	G	16866.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=1409;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.35;ReadPosRankSum=-0.412;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1340	17	1	1	0
chr14	88870123	88870123	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366536:exon9:c.A854G:p.H285R,TTC8:NM_001288782:exon10:c.A380G:p.H127R,TTC8:NM_001366535:exon10:c.A944G:p.H315R,TTC8:NM_198310:exon10:c.A854G:p.H285R,TTC8:NM_001288783:exon11:c.A257G:p.H86R,TTC8:NM_144596:exon11:c.A974G:p.H325R,TTC8:NM_198309:exon11:c.A944G:p.H315R,TTC8:NM_001288781:exon12:c.A1022G:p.H341R	Bardet-Biedl syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0263687356399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.997e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.573	0.49598	P	0.133	0.50064	B	0.000000	0.84330	D	0.046817	0.999999	0.58761	D	.	.	.	0.65	0.54540	T	-3.2	0.64710	D	0.732	0.80278	-0.5627	0.66301	T	0.312	0.68192	T	10	0.75442564	0.75875	D	0.026369	0.49282	D	0.403	0.71636	.	.	0.737109114567	0.73475	0.6359221758080217	0.63526	0.560083087123	0.52549	0.806850790977	0.83010	D	0.25473	0.62542	T	0.135262	0.67871	D	-0.0434815	0.67466	D	0.983386099338531	0.75071	D	0.89481	0.83666	D	.	.	.	.	.	.	.	.	-6.24	0.48245	T	.	.	0.657	0.75115	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.939897	0.57647	23.9	0.99400261362827669	0.62748	0.98314	0.81539	D	AEFBI	0.926558	0.90785	D	0.450958015764809	0.64257	4.676242	0.536328278950265	0.70452	5.507317	0.999934974382992	0.46732	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	8.878000	0.92023	11.144000	0.87156	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	15.812	0.78346	387	0.83408	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1304.33	33	chr14	88870123	.	A	G	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=768;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.58;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	18	0	1	0
chr14	90288233	90288233	C	A	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon11:c.G3142T:p.V1048L	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.020696803634	.	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0015	0.0002329	36	154602	rs553168136	0.0001	0.0001	5.991e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0014	2.428e-05	0.0002	0.0016	9.19e-05	9.185e-05	5.139e-05	0.0001	0.0019	5.522e-05	4.36e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.348e-05	0	0.0019	0.028	0.46129	D	0.179	0.29540	T	0.163	0.28433	B	0.029	0.21540	B	0.003535	0.34820	N	0.229980	0.836591	0.35000	D	1.9	0.50570	L	0.49	0.55775	T	-0.8	0.22078	N	0.423	0.46274	-0.8975	0.48244	T	0.132	0.44307	T	10	0.027313828	0.00880	T	0.020697	0.43346	T	0.094	0.27141	0.488	0.57257	0.723900465636	0.72146	0.41711761066602976	0.41627	0.0667731386781	0.07447	0.264311432838	0.05415	T	0.005826	0.05277	T	-0.358388	0.04221	T	-0.328109	0.41679	T	0.0346935048486588	0.02755	T	0.836716	0.50835	T	0.08104992	0.18604	0.08945538	0.20920	0.08104992	0.18603	0.08945538	0.20919	-1.708	0.02250	T	.	.	0.227	0.45895	B	.	.	3.113039	0.41995	21.5	0.96662916193227277	0.30632	0.98464	0.83051	D	AEFBI	0.467570	0.51474	N	-0.296311491587375	0.29291	1.623015	-0.173840550269649	0.32501	1.849772	0.966677977027867	0.28921	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	4.77	3.89	0.44098	3.405000	0.52379	4.027000	0.41303	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.8262:0.0:0.1738	10.341	0.43059	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	40	chr14	90288233	.	C	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=750;ExcessHet=0;FS=4.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.335;SOR=0.309	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1086,0,932	18	0	1	0
chr14	90288683	90288683	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon11:c.G2692A:p.D898N	.	.	.	.	.	.	.	.	.	.	.	3362674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00415753426454	.	0.000798722	0.0002	0	0	0.0023	0	0	0	0.0002	0.0001746	27	154602	rs183000861	8.414e-05	8.414e-05	8.031e-05	8.801e-05	0.0022	7.203e-05	6.75e-05	0.0018	0.0017	0	0	0	0.0022	0	0	9.892e-06	8.279e-05	0.0002	8.534e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.959e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	0	0	0.0004	0.53	0.07025	T	0.674	0.06225	T	0.001	0.07471	B	0.0	0.01387	B	0.007178	0.01157	N	2.422680	1	0.08975	N	0.755	0.19153	N	1.97	0.22067	T	-0.84	0.22944	N	0.092	0.07125	-1.0777	0.07801	T	0.027	0.11663	T	10	0.005444795	0.00120	T	0.004158	0.09995	T	0.011	0.01250	.	.	0.183819452728	0.17975	0.10374542391967542	0.10304	0.0634150338098	0.07060	0.251244008541	0.03900	T	7.87E-4	0.00376	T	-0.719478	0.00028	T	-0.810872	0.01645	T	0.0096957130025273	0.00127	T	0.606339	0.22814	T	0.012374784	0.00032	0.019084515	0.00076	0.012374784	0.00032	0.019084515	0.00076	-3.912	0.22482	T	.	.	0.072	0.04080	B	.	.	-0.188129	0.03153	0.510	0.77428582328573126	0.11872	0.08242	0.14196	N	AEFDBCI	0.039381	0.05711	N	-1.33683143858518	0.03263	0.1454772	-1.3607351481428	0.03681	0.1722032	0.940618821606372	0.27440	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.692231	0.68500	0	.	.	4.44	-1.36	0.08610	-0.718000	0.05083	-3.308000	0.02888	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1767:0.2081:0.3514:0.2637	0.830	0.01057	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1986.33	40	chr14	90288683	.	C	T	1986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=844;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.626;SOR=0.655	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1367	18	0	1	0
chr14	90298366	90298366	T	G	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon8:c.A1560C:p.E520D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.0417545812685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231325232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.0	0.91255	D	0.032	0.53426	D	1.0	0.90584	D	0.981	0.75168	D	0.000003	0.62929	D	0.058480	0.999999	0.58761	D	3.35	0.91085	M	1.4	0.33630	T	-2.6	0.59226	D	0.854	0.85027	-0.7963	0.55362	T	0.194	0.54725	T	10	0.44373363	0.58264	T	0.041755	0.60099	D	0.388	0.70440	0.537	0.64730	0.592197217354	0.58896	0.6311061145513757	0.63044	0.373551147566	0.38820	0.656823992729	0.60956	T	0.168594	0.51565	T	0.0301577	0.55744	T	-0.194457	0.55172	T	0.992231607437134	0.82666	D	0.919908	0.71037	D	0.6905756	0.77543	0.53555435	0.73162	0.6905756	0.77544	0.53555435	0.73162	-7.368	0.56679	T	.	.	0.960	0.88427	P	.;.	.;.	3.369779	0.46563	22.3	0.99839881912860196	0.92057	0.83007	0.42163	D	AEFBHCI	0.310649	0.41661	N	0.275789771940539	0.54925	3.657024	0.217863800508383	0.50837	3.271803	0.999974329020824	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.8	2.99	0.33673	0.815000	0.26910	0.376000	0.17729	-0.173000	0.11020	1.000000	0.71638	0.994000	0.32194	0.923000	0.45890	0.0:0.6651:0.0:0.3349	8.450	0.32024	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	33	chr14	90298366	.	T	G	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=667;ExcessHet=0;FS=3.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.916;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	18	0	1	0
chr14	90780822	90780822	C	T	exonic	TTC7B	.	nonsynonymous SNV	TTC7B:NM_001010854:exon3:c.G361A:p.A121T,TTC7B:NM_001320421:exon3:c.G55A:p.A19T	.	.	.	.	.	.	.	.	.	.	.	3925338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0112901461546	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs758500485	8.893e-06	8.893e-06	6.806e-06	1.1e-05	4.637e-05	4.96e-06	3.82e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.093e-06	0	4.637e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.163	0.65419	T	0.186	0.92824	T	0.915	0.50599	P	0.146	0.33945	B	0.000207	0.47681	D	0.224664	0.980185	0.39640	D	1.7	0.43825	L	1.21	0.37230	T	-1.43	0.62151	N	0.307	0.34659	-1.0769	0.07962	T	0.058	0.24242	T	10	0.17173254	0.31909	T	0.01129	0.28764	T	0.099	0.28413	0.464	0.53404	0.218628672733	0.21463	0.12113096934063709	0.12040	0.444185373145	0.44332	0.383394122124	0.22737	T	0.069922	0.33832	T	-0.100103	0.36408	T	-0.381568	0.35538	T	0.825592219829559	0.48192	D	0.950405	0.81010	D	0.15294462	0.34692	0.11069505	0.26695	0.15294462	0.34692	0.11069505	0.26694	-6.268	0.48469	T	.	.	0.067	0.07177	B	.;.;.	.;.;.	3.371065	0.46582	22.3	0.99873914171337319	0.95160	0.61193	0.31413	D	AEFDBI	0.223660	0.34799	N	-0.104756201148694	0.37184	2.159788	-0.0473485108928808	0.37604	2.204	0.997610206511734	0.35820	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	4.76	0.60189	0.571000	0.23372	4.044000	0.41450	0.599000	0.40250	0.274000	0.25084	0.999000	0.35428	0.973000	0.55318	0.1333:0.8667:0.0:0.0	16.330	0.82842	602	0.67834	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	35	chr14	90780822	.	C	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=719;ExcessHet=0;FS=8.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.57;SOR=0.251	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	18	0	1	0
chr14	91189060	91189060	C	G	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon9:c.C1085G:p.A362G,DGLUCY:NM_001286471:exon9:c.C1070G:p.A357G,DGLUCY:NM_001358310:exon9:c.C1085G:p.A362G,DGLUCY:NM_001358311:exon9:c.C1070G:p.A357G,DGLUCY:NM_001358312:exon9:c.C1085G:p.A362G,DGLUCY:NM_024952:exon9:c.C1070G:p.A357G,DGLUCY:NM_001102367:exon10:c.C1070G:p.A357G,DGLUCY:NM_001102366:exon11:c.C1070G:p.A357G,DGLUCY:NM_001102369:exon11:c.C1034G:p.A345G,DGLUCY:NM_001286472:exon11:c.C1085G:p.A362G,DGLUCY:NM_001286470:exon12:c.C1085G:p.A362G	.	437	1078	6	1	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	0.00279553	0.0020	0	0.0006	0	0	4.498e-05	0.0033	0.0142	0.0017529	271	154602	rs201585097	0.0009	0.0009	0.0005	0.0014	0.0146	0.0009	0.0009	0.0139	0.0136	0	0.0002	0	5.038e-05	1.872e-05	0.0009	3.867e-05	0.0009	0.0146	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0114	0.006	0.63226	D	0.011	0.92824	D	0.322	0.39417	B	0.095	0.37394	B	0.000003	0.62929	N	0.060313	0.999952	0.52396	D	.	.	.	1.55	0.29866	T	-3.0	0.63901	D	0.404	0.44474	-0.4182	0.71450	T	0.248	0.61704	T	10	0.005717635	0.00127	T	.	.	.	0.246	0.55340	0.501	0.59304	0.381071309025	0.37720	0.6348405987612734	0.63418	0.155099505343	0.17514	.	.	.	0.054072	0.54587	T	-0.375775	0.03311	T	-0.300227	0.44701	T	0.0761322569759102	0.09485	T	0.783822	0.48765	T	0.38438714	0.59631	0.4171403	0.65777	0.38438714	0.59632	0.4171403	0.65777	-9.1	0.68337	D	.	.	0.320	0.54499	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.639229	0.51593	23.1	0.99588906317292114	0.73454	0.97718	0.76633	D	AEFDGBI	0.643161	0.61987	D	0.13245262778941	0.47981	3.016437	0.0344970478253174	0.41329	2.481143	0.999930997634723	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.6	3.68	0.41359	4.655000	0.61171	4.311000	0.42969	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.8512:0.1488:0.0	14.411	0.66686	917	0.20147	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	948.33	35	chr14	91189060	.	C	G	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.294;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	18	0	1	0
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T,DGLUCY:NM_001286471:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358310:exon11:c.G1357A:p.A453T,DGLUCY:NM_001358311:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358312:exon11:c.G1357A:p.A453T,DGLUCY:NM_024952:exon11:c.G1342A:p.A448T,DGLUCY:NM_001102367:exon12:c.G1342A:p.A448T,DGLUCY:NM_001102366:exon13:c.G1342A:p.A448T,DGLUCY:NM_001102369:exon13:c.G1306A:p.A436T,DGLUCY:NM_001286472:exon13:c.G1357A:p.A453T,DGLUCY:NM_001286470:exon14:c.G1357A:p.A453T	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1437.33	39	chr14	91199818	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=774;ExcessHet=0;FS=5.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.334;SOR=1.161	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr14	91273331	91273331	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.C5381G:p.P1794R	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	739374	CCDC88C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	.	8.4e-05	0.00159744	0.0042	0	0.0053	0	0	0.0013	0	0.0121	0.0008797	136	154602	rs200077683	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	3.141e-05	0.0012	0.0006	2.678e-05	0	0.0011	0.0001	0.0009	0.0059	0.0007	0.0007	0.0006	0.0009	0.0054	0.0006	0.0006	0.0038	0.0032	4.808e-05	0	0.0039	0.0009	0	0	0.0034	0.0001	0.0033	0.0054	0.527	0.07093	T	0.491	0.11515	T	0.528	0.37661	P	0.277	0.40197	B	0.043659	0.23718	U	0.300464	1	0.08975	N	2.44	0.70756	M	2.52	0.14160	T	-1.88	0.43906	N	0.209	0.23253	-0.9611	0.38974	T	0.149	0.47610	T	10	0.004674226	0.00098	T	.	.	.	0.096	0.27654	.	.	0.501874446873	0.49824	0.20276624002257568	0.20193	0.30571589573	0.32879	0.423363089561	0.28300	T	0.029139	0.20950	T	-0.594125	0.00158	T	-0.622331	0.11003	T	0.0244717706613991	0.01205	T	0.735226	0.35154	T	0.04033894	0.05739	0.07398957	0.16137	0.042450864	0.06440	0.04998176	0.07749	-5.201	0.38952	T	.	.	0.143	0.31381	B	.	.	1.814704	0.23060	15.87	0.90902478556864141	0.20151	0.75200	0.36809	D	AEFDBCI	0.267172	0.38393	N	-0.0153756271211116	0.41160	2.457021	-0.119785351367804	0.34593	1.991618	0.997731176467018	0.35965	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	2.164000	0.42013	5.678000	0.49283	0.618000	0.50648	0.024000	0.20007	0.996000	0.32793	0.450000	0.27895	0.1905:0.0:0.8095:0.0	8.604	0.32924	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05263	3128.81	36	chr14	91273331	.	G	C	3128.81	.	AC=2;AF=0.053;AN=38;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.29;SOR=1.473	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	18	1	0	0
chr14	91273529	91273529	A	G	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.T5183C:p.F1728S	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	725853	not_provided|Spinocerebellar_ataxia_type_40|Hydrocephalus,_nonsyndromic,_autosomal_recessive_1	MedGen:C3661900|MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275|MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0052	0.00559105	0.0019	0.0209	0.0007	0	0	3.171e-05	0.0025	0	0.0016494	255	154602	rs7145583	0.0004	0.0005	0.0005	0.0004	0.0173	0.0004	0.0004	0.0161	0.0156	0.0173	0.0006	0	0	0	0.0002	1.123e-05	0.0009	4.095e-05	0.0054	0.0055	0.0056	0.0052	0.0186	0.0051	0.0050	0.0176	0.0171	0.0186	0	0.0027	0	0	0	0	8.83e-05	0.0028	0	0.051	0.41096	T	0.728	0.22828	T	0.242	0.30930	B	0.154	0.34351	B	0.133580	0.18546	U	0.410931	0.991989	0.26148	N	2.3	0.65703	M	0.84	0.47477	T	-5.21	0.83763	D	0.686	0.69213	-1.0370	0.18233	T	0.062	0.25958	T	10	0.0065525174	0.00148	T	.	.	.	0.079	0.23065	.	.	0.590315534784	0.58708	0.2936350168542314	0.29276	0.329577118065	0.35066	0.309077650309	0.11767	T	0.128776	0.45665	T	-0.546495	0.00306	T	-0.542183	0.18081	T	0.0241909031714759	0.01169	T	0.780822	0.41560	T	0.14962676	0.34101	0.20227353	0.44247	0.15102406	0.34352	0.19858123	0.43697	-2.617	0.06633	T	.	.	0.432	0.61316	A	.;.	.;.	2.046355	0.26014	16.97	0.97408929087248752	0.33815	0.74569	0.36482	D	AEFBCI	0.215870	0.34118	N	-0.271095742827129	0.30269	1.686208	-0.248749473309994	0.29814	1.673478	0.925816677103314	0.26829	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	3.52	0.39415	2.718000	0.46904	3.990000	0.40980	0.691000	0.84096	1.000000	0.71638	0.987000	0.30940	0.027000	0.12703	0.6516:0.1293:0.0:0.2191	6.903	0.23474	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2507.33	36	chr14	91273529	.	A	G	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=931;ExcessHet=0;FS=5.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.151;SOR=0.657	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	18	0	1	0
chr14	91278128	91278128	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.C4852T:p.R1618W	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	725854	not_provided|Inborn_genetic_diseases|CCDC88C-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0134613910287	.	0.000199681	0.0011	0.0002	0.0002	0	0	0.0002	0	0.0069	0.0008085	125	154602	rs573820836	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0064	2.988e-05	6.717e-05	0	0.0001	3.762e-05	0.0030	0.0003	0.0007	0.0071	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	9.62e-05	0	0	0	0	0	0	0.0003	0.0005	0.0066	0.003	0.68238	D	0.041	0.53788	D	0.009	0.15093	B	0.001	0.04355	B	0.021162	0.26887	U	0.178377	0.992863	0.23812	N	2.36	0.67893	M	0.7	0.51474	T	-2.96	0.61722	D	0.365	0.40665	-0.9759	0.35926	T	0.099	0.36856	T	10	0.003807038	0.00071	T	0.013461	0.32880	T	0.061	0.17616	0.327	0.31034	0.549290840505	0.54585	0.3476530149903494	0.34679	0.135941461379	0.15331	0.41852670908	0.27634	T	0.146126	0.48583	T	-0.49284	0.00627	T	-0.477678	0.24694	T	0.0261608245400736	0.01428	T	0.793221	0.43505	T	0.048088975	0.08327	0.046315424	0.06427	0.045137677	0.07335	0.050512742	0.07942	-6.16	0.47598	T	.	.	0.091	0.17657	B	.;.	.;.	1.193358	0.15847	12.15	0.96581142752854221	0.30333	0.81608	0.40978	D	AEFDBI	0.262278	0.38005	N	-0.576846034268236	0.19649	1.030053	-0.498669417426254	0.22191	1.204078	0.999999968003431	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	4.05	0.46415	0.392000	0.20527	0.775000	0.21430	-0.968000	0.01952	0.435000	0.26448	0.000000	0.08366	0.008000	0.08271	0.0781:0.0:0.6365:0.2854	7.383	0.26039	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1843.33	33	chr14	91278128	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.626;DP=783;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-1.003;SOR=0.955	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1133	18	0	1	0
chr14	91289113	91289113	A	G	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon25:c.T4433C:p.V1478A	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	441704	Spinocerebellar_ataxia_type_40|Hydrocephalus,_nonsyndromic,_autosomal_recessive_1|not_specified|not_provided	MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275|MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.00559105	0.0019	0.0229	0.0009	0	0	3.267e-05	0.0012	0.0001	0.0016817	260	154602	rs201222692	0.0005	0.0005	0.0005	0.0004	0.0175	0.0005	0.0004	0.0163	0.0158	0.0175	0.0010	0	0	0	0.0002	6.297e-06	0.0011	5.8e-05	0.0057	0.0057	0.0058	0.0056	0.0197	0.0054	0.0053	0.0186	0.0181	0.0197	0	0.0025	0	0	0	0	7.368e-05	0.0033	0	1.0	0.00964	T	0.776	0.04387	T	0.0	0.02946	B	0.0	0.01387	B	0.278448	0.03818	N	1.781660	1	0.08975	N	0.77	0.19370	N	2.5	0.14408	T	0.48	0.03041	N	0.047	0.01911	-1.0184	0.24236	T	0.007	0.02360	T	10	0.002591908	0.00039	T	.	.	.	0.035	0.08770	.	.	0.112648838833	0.10856	0.1203829956037625	0.11965	0.157523746145	0.17784	0.214435428381	0.01013	T	0.010881	0.09774	T	-0.63587	0.00088	T	-0.670564	0.07573	T	0.000683994578658421	0.00006	T	0.110089	0.00824	T	0.013204622	0.00052	0.017584797	0.00035	0.017501118	0.00278	0.01500554	0.00005	-2.717	0.07447	T	.	.	0.064	0.01577	B	.	.	-0.746823	0.01217	0.061	0.35087435588331639	0.02182	0.01817	0.05653	N	AEFDGBI	0.021531	0.00969	N	-1.9301514497861	0.00297	0.01276841	-2.01806007055581	0.00281	0.01237718	0.999999989310826	0.74766	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.57	-11.0	0.00133	-0.033000	0.12196	-1.647000	0.04992	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.295:0.3007:0.3343:0.07	5.222	0.14696	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001011	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	765.33	34	chr14	91289113	.	A	G	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=725;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.685;SOR=1.046	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	18	0	1	0
chr14	91325981	91325981	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon11:c.C1126T:p.R376W	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	429607	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.121908679267	.	.	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs754564295	4.798e-05	5.199e-05	4.965e-05	4.627e-05	0.0003	3.856e-05	3.533e-05	6.117e-05	3.783e-05	3.024e-05	0	0	2.577e-05	1.925e-05	0.0003	5.274e-05	8.393e-05	1.207e-05	3.288e-05	3.284e-05	2.571e-05	4.039e-05	7.349e-05	1.262e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.978	0.58756	D	0.88	0.62516	P	0.000627	0.42799	U	0.000000	1	0.81001	D	2.405	0.69568	M	0.33	0.58323	T	-6.67	0.92346	D	0.75	0.74918	-0.0723	0.80727	T	0.389	0.74357	T	10	0.8677491	0.86026	D	0.121909	0.80277	D	0.367	0.68670	0.663	0.80098	0.761946902992	0.75977	0.5549353555968913	0.55420	0.613478281511	0.55912	0.729620575905	0.71451	T	0.146395	0.48398	T	0.0435939	0.57515	T	0.019814	0.71619	D	0.949446082115173	0.63115	D	0.955104	0.82903	D	0.3829317	0.59528	0.39816186	0.64412	0.3829317	0.59528	0.39816186	0.64412	-11.598	0.82838	D	.	.	0.739	0.74599	P	.	.	4.999442	0.82944	27.9	0.99898690207399499	0.97124	0.93411	0.58145	D	AEFDBHCIJ	0.751892	0.69256	D	0.621944292851058	0.74564	6.154215	0.507410391796775	0.68489	5.226947	0.999999999942949	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.22	3.18	0.35615	6.275000	0.72616	6.473000	0.55719	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7479:0.2521	13.939	0.63554	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5268.83	36	chr14	91325981	.	G	A	5268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.12;DP=1071;ExcessHet=0.119;FS=2.45;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.52;SOR=0.506	GT:AD:DP:GQ:PL	0/1:107,102:209:99:2591,0,2532	17	0	2	0
chr14	91610481	91610481	G	C	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon21:c.C2597G:p.P866R	.	442	1078	2	0	0	2	0.000926784	0.9944	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.11643856533	0.0042	.	0.0032	0.0013	0.0014	0	0.0006	0.0050	0.0011	0.0010	0.0031565	488	154602	rs149037988	0.0041	0.0041	0.0042	0.0041	0.0049	0.0041	0.0040	0.0048	0.0047	0.0010	0.0023	0.0055	0	0.0003	0.0046	0.0049	0.0034	0.0009	0.0031	0.0031	0.0034	0.0029	0.0048	0.0029	0.0028	0.0044	0.0042	0.0014	0.0208	0.0026	0.0052	0	0.0007	0	0.0048	0.0029	0.0006	0.003	0.68238	D	0.025	0.56192	D	1.0	0.90584	D	1.0	0.97372	D	0.003386	0.35013	N	0.130665	0.99658	0.43291	D	2.75	0.80375	M	0.15	0.60734	T	-6.65	0.92260	D	0.611	0.62781	-0.4108	0.71685	T	0.287	0.65841	T	10	0.0194996	0.00436	T	0.116439	0.79592	D	0.322	0.64420	.	.	0.844047955027	0.84255	0.6907491671347212	0.69014	0.825720942332	0.67392	0.61766731739	0.55399	T	0.379548	0.74227	T	-0.251265	0.13944	T	-0.132196	0.60786	T	0.0352506897643121	0.02851	T	.	.	.	0.6672615	0.76286	0.72803104	0.83932	0.6672615	0.76287	0.72803104	0.83933	-3.993	0.23699	T	.	.	0.787	0.76700	P	.	.	5.370896	0.90040	31	0.99853073756254151	0.93191	0.95845	0.66400	D	AEFI	0.799803	0.72596	D	0.738241407624596	0.82136	7.689054	0.728908779629844	0.84573	8.329967	0.979118365915115	0.29993	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	4.955000	0.63343	11.649000	0.93865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	15.444	0.74935	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	44	chr14	91610481	.	G	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.03;DP=768;ExcessHet=0;FS=3.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.947;SOR=1.082	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr14	91785302	91785302	G	A	exonic	TC2N	.	nonsynonymous SNV	TC2N:NM_001289134:exon10:c.C1030T:p.R344C,TC2N:NM_001128595:exon11:c.C1222T:p.R408C,TC2N:NM_001128596:exon11:c.C1222T:p.R408C,TC2N:NM_152332:exon11:c.C1222T:p.R408C	.	.	.	.	.	.	.	.	.	.	.	3485798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0929541059231	.	.	8.249e-06	9.669e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs750114377	7.526e-06	7.524e-06	6.808e-06	8.252e-06	0.0003	4.04e-06	2.95e-06	6.096e-05	2.522e-05	2.988e-05	2.236e-05	0	2.523e-05	0	0.0003	3.598e-06	3.313e-05	0	1.973e-05	1.969e-05	0	4.037e-05	0.0004	5.24e-06	2.46e-06	6.842e-05	2.863e-05	2.41e-05	0	0	0	0.0004	0	0	0	0	0	0.006	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.050633	1	0.81001	D	2.125	0.59049	M	-0.66	0.72348	T	-2.71	0.62976	D	0.785	0.78262	-0.1500	0.78916	T	0.414	0.76177	T	10	0.77981365	0.77760	D	0.092954	0.75986	D	0.635	0.86027	0.596	0.72617	0.825219688698	0.82356	0.4348189947624074	0.43398	0.35862413159	0.37576	0.670634746552	0.62928	T	0.279684	0.65238	T	0.155219	0.69755	D	0.210887	0.83710	D	0.850529134273529	0.50211	D	.	.	.	0.31876615	0.54535	0.22591862	0.47553	0.31876615	0.54535	0.22591862	0.47552	-5.358	0.40513	T	.	.	0.338	0.61161	B	.;.;.;.;.	.;.;.;.;.	5.509864	0.91672	32	0.99927345791249955	0.99163	0.96342	0.68671	D	AEFI	0.776680	0.70972	D	0.617464862915441	0.74278	6.105722	0.637627791773749	0.77691	6.728581	0.73438780774774	0.23105	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.35	5.35	0.76297	6.368000	0.73042	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	19.061	0.93075	794	0.45591	C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain;.;C2 domain|C2 domain|C2 domain|Tandem C2 domains nuclear protein, C2B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	827.33	35	chr14	91785302	.	G	A	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=691;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.076;SOR=0.544	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1248	18	0	1	0
chr14	91881380	91881380	G	T	exonic	FBLN5	.	nonsynonymous SNV	FBLN5:NM_001384159:exon9:c.C952A:p.L318M,FBLN5:NM_001384160:exon9:c.C901A:p.L301M,FBLN5:NM_006329:exon9:c.C901A:p.L301M,FBLN5:NM_001384158:exon10:c.C1024A:p.L342M,FBLN5:NM_001384161:exon10:c.C733A:p.L245M,FBLN5:NM_001384162:exon10:c.C733A:p.L245M	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	872919	not_provided|Optic_atrophy|Cutis_laxa|Cutis_laxa,_autosomal_dominant|Macular_degeneration,_age-related,_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209|MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895,Orphanet:280598	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0655539745453	0.0002	.	0.0003	0	0.0003	0	0	0.0002	0	0.0012	0.0002393	37	154602	rs377360782	0.0001	0.0001	9.802e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0001	0	0	0	0.0021	7.915e-05	0.0002	0.0009	7.22e-05	7.217e-05	3.853e-05	0.0001	0.0004	3.967e-05	3.124e-05	7.29e-05	3.029e-05	0	0	6.535e-05	0	0	0	0.0034	7.349e-05	0.0009	0.0004	0.231	0.61437	T	0.086	0.40909	T	0.964	0.55854	D	0.526	0.48415	P	0.114243	0.19282	N	0.518982	1	0.08975	N	1.685	0.43254	L	-2.96	0.91956	D	0.52	0.02853	N	0.361	0.40264	-0.1903	0.77920	T	0.610	0.86166	D	10	0.029338509	0.01061	T	0.065554	0.69613	D	0.269	0.58381	.	.	0.376443419754	0.37259	0.5307321015179729	0.52997	0.530318955464	0.50568	0.327440261841	0.14547	T	0.057858	0.51029	T	-0.20657	0.19866	T	-0.142304	0.59917	T	0.0580359422710967	0.06855	T	0.657134	0.31637	T	0.05420917	0.10369	0.05013022	0.07803	0.08970296	0.20966	0.05678848	0.10207	-4.892	0.35645	T	0.2263219147927743	0.30587	0.103	0.20078	B	.;.;.	.;.;.	2.422899	0.31160	18.66	0.9836839289366679	0.40719	0.48930	0.28318	N	AEFBI	0.174960	0.30211	N	-0.483295737506183	0.22627	1.209593	-0.458952080881223	0.23295	1.269628	0.777259662961855	0.23773	0.706298	0.61202	0	0.574621	0.32753	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.5	1.43	0.21585	0.751000	0.26013	1.748000	0.28453	0.676000	0.76740	0.969000	0.34210	1.000000	0.68203	0.996000	0.76049	0.2417:0.1093:0.5369:0.1121	3.420	0.06964	678	0.60190	EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1351.33	45	chr14	91881380	.	G	T	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=799;ExcessHet=0;FS=2.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.323;SOR=0.994	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1377	18	0	1	0
chr14	92007650	92007650	T	G	exonic	TRIP11	.	nonsynonymous SNV	TRIP11:NM_001321851:exon10:c.A1514C:p.E505A,TRIP11:NM_004239:exon10:c.A1517C:p.E506A	Achondrogenesis, type IA, Autosomal recessive	225	1292	3	2	0	7	0.00270166	.	.	.	433989	not_provided|Achondrogenesis,_type_IA|Connective_tissue_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0093	0.0153754	0.0066	0.0264	0.0017	0.0071	0	0.0002	0.0033	0.0262	0.0060607	937	154602	rs2273186	0.0025	0.0025	0.0020	0.0030	0.0268	0.0025	0.0024	0.0253	0.0248	0.0268	0.0018	0	0.0037	0	0.0026	0.0002	0.0047	0.0238	0.0083	0.0084	0.0084	0.0082	0.0250	0.0079	0.0078	0.0237	0.0232	0.0250	0	0.0024	0	0.0073	0	0.0068	0.0003	0.0066	0.0240	0.0	0.91255	D	0.006	0.70582	D	0.998	0.73220	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	0.999673	0.48205	D	2.82	0.82106	M	3.41	0.05574	T	-2.56	0.55339	D	0.471	0.50688	-0.6865	0.61071	T	0.157	0.48891	T	10	0.008237064	0.00187	T	.	.	.	0.196	0.47777	.	.	0.311387274539	0.30754	0.2233592934776277	0.22250	0.523518099655	0.50058	0.494267821312	0.38031	T	0.12948	0.45778	T	-0.444874	0.01210	T	-0.392883	0.34213	T	0.115267241626062	0.13962	T	0.824018	0.48536	T	0.5757454	0.71376	0.4665094	0.69045	0.5757454	0.71377	0.4665094	0.69046	-6.114	0.47223	T	0.5417541670725102	0.61131	0.162	0.35849	B	.	.	4.178489	0.62890	24.5	0.99369611690440784	0.61368	0.98814	0.87202	D	AEFBI	0.609001	0.59836	D	0.024442422058752	0.42968	2.599118	0.0405560930377334	0.41617	2.50335	0.956381682905652	0.28244	0.706548	0.73137	0	0.708844	0.79440	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	6.04	3.63	0.40741	6.586000	0.73956	4.299000	0.42935	-0.147000	0.12262	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.0:0.251:0.749	13.185	0.59100	670	0.60992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.020202	0.008152	0.008772	0.000000	0.008621	0.003049	0.015152	0.05263	1974.83	33	chr14	92007650	.	T	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.04;DP=728;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.455;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1319	17	0	2	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G78Afs*74,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G38Afs*74,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G93Afs*74,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G144Afs*74,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G185Qfs*42,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G127Qfs*42,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G255Qfs*42,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G236Qfs*42,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G291Qfs*42,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G251Qfs*42,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G306Qfs*42	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	37577.2	48	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	37577.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.1;DP=1581;ExcessHet=0.7564;FS=1.2;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=59.44;MQRankSum=0.302;QD=28.75;ReadPosRankSum=-0.366;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,10:19:99:.:.:2883,515,321:.	17	0	2	0
chr14	92117583	92117583	T	A	exonic	NDUFB1	.	nonsynonymous SNV	NDUFB1:NM_004545:exon2:c.A55T:p.M19L	.	457	1061	4	0	0	4	0.00188147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0124098983153	0.0037	0.00159744	0.0039	0.0006	0.0016	0	0.0032	0.0064	0.0055	0	0.0039068	604	154602	rs149760197	0.0041	0.0041	0.0042	0.0040	0.0050	0.0041	0.0040	0.0049	0.0049	0.0006	0.0020	0.0009	2.519e-05	0.0035	0.0007	0.0050	0.0025	8.115e-05	0.0033	0.0033	0.0035	0.0031	0.0057	0.0030	0.0029	0.0052	0.0050	0.0009	0	0.0027	0.0009	0	0.0023	0	0.0057	0.0024	0	0.236	0.17940	T	0.862	0.18232	T	0.004	0.12183	B	0.006	0.12133	B	0.000269	0.46590	N	0.174294	0.996486	0.23000	N	.	.	.	-0.44	0.69777	T	-0.6	0.17834	N	0.163	0.18239	-1.0582	0.12209	T	0.086	0.33438	T	9	0.01132524	0.00248	T	0.01241	0.30958	T	0.343	0.66488	0.551	0.66716	0.593256499266	0.59003	0.2670279460835357	0.26615	0.390474098581	0.40258	0.216405048966	0.01113	T	0.006074	0.05507	T	-0.280646	0.10599	T	-0.170214	0.57423	T	0.00209103707594122	0.00022	T	0.671533	0.28021	T	0.06893576	0.15061	0.04982038	0.07692	0.06893576	0.15061	0.04982038	0.07692	-1.656	0.02226	T	.	.	0.110	0.32969	B	.;.;.;.;.	.;.;.;.;.	-1.651828	0.00215	0.003	0.65147270593842732	0.07691	0.10524	0.16007	N	AEFBI	0.165760	0.29228	N	-1.11837892776667	0.06316	0.2904216	-1.12571581053914	0.07212	0.3499375	0.993613908571874	0.33285	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.18	-2.0	0.07024	-1.755000	0.01913	-4.726000	0.02014	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.235:0.3716:0.0:0.3935	4.960	0.13411	867	0.32089	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1596.33	138	chr14	92117583	.	T	A	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1275	18	0	1	0
chr14	92493513	92493513	G	A	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon17:c.G1754A:p.R585Q,SLC24A4:NM_153648:exon17:c.G1562A:p.R521Q,SLC24A4:NM_001378620:exon18:c.G1754A:p.R585Q,SLC24A4:NM_153647:exon18:c.G1697A:p.R566Q	Amelogenesis imperfecta, type IIA5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	725866	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.212	.	0.0035	0.00459265	0.0013	0.0139	0.0004	0	0	4.502e-05	0	0	0.001216	188	154602	rs77441273	0.0004	0.0004	0.0005	0.0003	0.0135	0.0004	0.0003	0.0125	0.0121	0.0135	0.0007	0	0	0	0.0002	2.248e-05	0.0009	1.159e-05	0.0037	0.0037	0.0039	0.0035	0.0128	0.0035	0.0034	0.0119	0.0115	0.0128	0	0.0016	0	0	0	0.0034	0.0001	0.0005	0	0.018	0.50676	D	0.028	0.54934	D	0.968	0.56581	D	0.497	0.47562	P	0.027735	0.25711	N	0.427337	0.808148	0.29512	N	3.325	0.90780	M	-0.17	0.65563	T	-1.77	0.41809	N	0.095	0.09349	-0.6321	0.63481	T	0.186	0.53511	T	10	0.008594722	0.00195	T	.	.	.	0.212	0.50341	.	.	0.82348033158	0.82181	0.6773261680254041	0.67671	0.365847165232	0.38172	0.25608420372	0.04436	T	0.360897	0.72707	T	-0.401201	0.02274	T	-0.337398	0.40639	T	0.0911008971563925	0.11348	T	0.835416	0.50550	T	0.14870545	0.33937	0.12074622	0.29137	0.14518225	0.33292	0.12844372	0.30900	-7.976	0.60906	D	.	.	0.098	0.17360	B	.;.;.	.;.;.	3.586681	0.50588	23.0	0.99934085394756611	0.99535	0.82926	0.42091	D	AEFBI	0.401544	0.47599	N	0.425096801419687	0.62807	4.502722	0.444387522805171	0.64356	4.689022	0.999977564557144	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.57	4.57	0.55860	1.561000	0.35950	5.047000	0.46963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.2345:0.0:0.7655:0.0	9.046	0.35507	474	0.77851	.;.;Sodium/calcium exchanger membrane region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3386.33	35	chr14	92493513	.	G	A	3386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=918;ExcessHet=0;FS=2.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.01;SOR=0.575	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	18	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.07895	4196.79	41	chr14	92652445	.	A	C	4196.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1089;ExcessHet=0.3672;FS=0.785;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.086;SOR=0.747	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	16	0	3	0
chr14	92941732	92941732	G	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.C717A:p.S239R,ITPK1:NM_001142593:exon11:c.C1074A:p.S358R,ITPK1:NM_014216:exon11:c.C1074A:p.S358R	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0290372094218	.	0.000399361	0.0012	0	0.0007	0	0	0.0005	0.0076	0.0031	0.0003493	54	154602	rs567443586	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	0	0.0002	0	0	0	0.0022	9.972e-05	0.0003	0.0025	0.0002	0.0002	8.99e-05	0.0002	0.0027	0.0001	9.229e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	0.0001	0	0.0027	0.019	0.50676	D	0.041	0.51112	D	0.03	0.20002	B	0.03	0.21741	B	0.509576	0.11859	N	0.807672	0.976324	0.81001	D	1.65	0.42232	L	.	.	.	-0.74	0.25118	N	0.156	0.20925	-0.7337	0.58776	T	0.210	0.56973	T	9	0.01060459	0.00235	T	0.029037	0.51617	D	0.071	0.20720	0.415	0.45380	0.128874641272	0.12493	0.3961380180446271	0.39528	0.558886656677	0.52455	0.692266702652	0.66032	T	0.110339	0.42496	T	-0.436196	0.01362	T	-0.404889	0.32817	T	0.0412309674587538	0.03914	T	.	.	.	0.0807201	0.18512	0.09399475	0.22228	0.0807201	0.18511	0.09399475	0.22227	-3.783	0.20551	T	.	.	0.217	0.44732	B	.;.;.	.;.;.	1.792478	0.22787	15.76	0.99428485580061599	0.64130	0.97618	0.75940	D	AEFBI	0.617684	0.60377	D	-0.127428297000857	0.36200	2.08932	-0.0229456387727947	0.38680	2.282391	0.999999550149433	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.554053	0.18673	1	0.655142	0.61905	0	.	.	4.49	3.58	0.40133	2.208000	0.42436	3.535000	0.38974	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0817:0.0:0.9183:0.0	13.324	0.59887	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002030	0.000000	0.004087	0.000000	0.000000	0.000000	0.003067	0.000000	0.05263	1768.81	33	chr14	92941732	.	G	T	1768.81	.	AC=2;AF=0.053;AN=38;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.76;SOR=1.22	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1022	18	1	0	0
chr14	93184056	93184056	T	G	exonic	MOAP1	.	nonsynonymous SNV	MOAP1:NM_022151:exon3:c.A187C:p.K63Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0027455713106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.15613	T	0.312	0.19599	T	0.282	0.32132	B	0.122	0.32387	B	.	.	.	.	1	0.08975	N	0.745	0.18958	N	2.63	0.12884	T	-1.4	0.34596	N	0.081	0.05670	-0.9863	0.33518	T	0.022	0.09513	T	9	0.10724634	0.19911	T	0.002746	0.05665	T	0.012	0.01476	0.445	0.50302	0.305730143919	0.30178	0.29644565744612367	0.29557	0.167897587978	0.18931	0.55158752203	0.46081	T	0.065206	0.32630	T	-0.313321	0.07459	T	-0.687841	0.06514	T	0.142530852659585	0.16491	T	.	.	.	0.09233719	0.21659	0.10697251	0.25745	0.09233719	0.21658	0.10697251	0.25744	-4.575	0.31856	T	.	.	0.139	0.30476	B	.;.	.;.	1.853587	0.23545	16.06	0.73329336205281115	0.10289	0.12812	0.17494	N	AEFDGBCI	0.046144	0.07630	N	-0.715387818415751	0.15590	0.7869616	-0.757316355604914	0.15542	0.8179363	0.999991080170188	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.34	2.18	0.26813	0.255000	0.18102	1.607000	0.27615	0.664000	0.56970	0.423000	0.26353	0.011000	0.20116	0.239000	0.22975	0.0:0.1537:0.0:0.8463	4.790	0.12614	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1803.33	45	chr14	93184056	.	T	G	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=835;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.432;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr14	93214953	93214953	G	A	exonic	UBR7	.	nonsynonymous SNV	UBR7:NM_175748:exon5:c.G466A:p.V156I	.	0	1521	1	0	0	1	0.000328623	.	.	.	2807191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00771577191369	.	.	0.0001	0	0.0004	0.0001	0	7.837e-05	0	0.0004	0.0001164	18	154602	rs201726432	0.0002	0.0002	0.0002	0.0002	0.0097	0.0002	0.0002	0.0077	0.0069	0.0002	0.0005	7.663e-05	0.0001	0	0.0097	0.0001	0.0004	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	9.235e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0009	0.0004	0	0	0.0001	0.0014	0.0008	0.79	0.07695	T	0.481	0.12562	T	0.003	0.11197	B	0.005	0.11217	B	0.000131	0.49741	N	0.180500	0.923935	0.36761	D	0.4	0.12274	N	-1.18	0.78314	T	-0.2	0.11185	N	0.161	0.16864	-0.9392	0.42743	T	0.179	0.52458	T	10	0.03948456	0.02442	T	0.007716	0.20483	T	0.179	0.44899	.	.	0.360961692134	0.35713	0.26756047198623184	0.26669	0.367186754456	0.38278	0.436189830303	0.30057	T	0.007204	0.09680	T	-0.328829	0.06201	T	-0.356083	0.38506	T	0.0274046879260027	0.01602	T	.	.	.	0.03182677	0.03093	0.034382872	0.02495	0.03182677	0.03093	0.034382872	0.02494	-5.351	0.40445	T	.	.	0.072	0.11654	B	.;.;.	.;.;.	1.672906	0.21327	15.15	0.77135355883858547	0.11751	0.75353	0.36890	D	AEFBI	0.136851	0.25765	N	-0.596281559611613	0.19056	0.994416	-0.41616830083787	0.24522	1.343305	0.987836335683317	0.31353	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.01	0.19044	0.984000	0.29163	1.157000	0.24525	0.676000	0.76740	0.859000	0.30595	0.970000	0.29701	0.992000	0.67800	0.5582:0.0:0.4418:0.0	8.037	0.29657	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.006793	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	1001.33	33	chr14	93214953	.	G	A	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=734;ExcessHet=0;FS=1.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.016;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1159	18	0	1	0
chr14	93218608	93218608	A	G	exonic	UBR7	.	nonsynonymous SNV	UBR7:NM_175748:exon7:c.A683G:p.N228S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0381503497619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.27544	T	0.457	0.13103	T	0.0	0.02946	B	0.001	0.04355	B	0.039988	0.24109	N	0.494253	0.656408	0.31664	N	0.97	0.24054	L	-1.03	0.76430	T	-0.8	0.22078	N	0.142	0.14196	-0.7730	0.56692	T	0.264	0.63480	T	10	0.08286646	0.13724	T	0.03815	0.58047	D	0.155	0.40530	0.16	0.06396	0.686473688929	0.68379	0.10000872257322906	0.09931	0.365470389754	0.38140	0.346125334501	0.17350	T	0.009784	0.08886	T	-0.158079	0.27055	T	-0.464846	0.26074	T	0.0943264216184616	0.11720	T	.	.	.	0.036616325	0.04537	0.03758983	0.03444	0.036616325	0.04537	0.03758983	0.03443	-3.32	0.13997	T	.	.	0.075	0.20274	B	.;.	.;.	2.228234	0.28438	17.80	0.62217067486665212	0.06906	0.49919	0.28543	N	AEDBI	0.134346	0.25433	N	-0.26102165867646	0.30665	1.712016	-0.077850010437623	0.36308	2.111297	0.941395337625756	0.27475	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.94	0.64645	1.980000	0.40241	6.941000	0.56991	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.8604:0.0:0.1396:0.0	8.008	0.29501	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	33	chr14	93218608	.	A	G	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.1;DP=691;ExcessHet=0;FS=2.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=-0.196;SOR=0.459	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	93263897	93263897	C	T	exonic	BTBD7	.	nonsynonymous SNV	BTBD7:NM_001289133:exon2:c.G206A:p.R69Q,BTBD7:NM_001002860:exon4:c.G1259A:p.R420Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0629756115827	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs773513406	1.026e-05	1.026e-05	1.361e-05	6.875e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	7.194e-06	3.311e-05	2.319e-05	3.287e-05	3.284e-05	5.14e-05	1.346e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0.0002	0.006	0.61437	D	0.01	0.65728	D	0.976	0.77913	D	0.582	0.60432	P	0.000001	0.84330	D	0.055019	1	0.81001	D	2.25	0.63811	M	-0.29	0.67712	T	-3.21	0.65056	D	0.715	0.94077	-0.0898	0.80332	T	0.434	0.77504	T	10	0.68146276	0.71305	D	0.062976	0.68822	D	0.370	0.68930	0.491	0.57732	0.64650504949	0.64357	0.5334111461045338	0.53266	0.75028358683	0.63735	0.798785686493	0.81777	T	0.429801	0.77848	T	0.0804616	0.62094	D	-0.122199	0.61622	T	0.989102244377136	0.79363	D	.	.	.	0.5978903	0.72578	0.37087372	0.62328	0.5978903	0.72579	0.37087372	0.62328	-8.084	0.61641	D	.	.	0.532	0.65998	A	.;.	.;.	5.378966	0.90151	31	0.99961469417109217	0.99998	0.98403	0.82420	D	AEFBI	0.888749	0.82218	D	0.70577248033062	0.80010	7.200692	0.696576391358842	0.82119	7.688631	0.999999999999992	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.905000	0.86479	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.323	0.90186	792	0.45996	BTB/Kelch-associated|BTB/Kelch-associated;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1031.33	33	chr14	93263897	.	C	T	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=689;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.409;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr14	93577948	93577948	G	A	exonic	UNC79	.	nonsynonymous SNV	UNC79:NM_001346218:exon18:c.G2318A:p.R773H,UNC79:NM_020818:exon18:c.G1787A:p.R596H	.	423	1095	4	0	0	4	0.00182315	.	.	.	2337757	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00323249415738	0.0002	0.000399361	0.0003	0.0013	0.0004	0.0002	0	0.0002	0	0.0005	0.0002781	43	154602	rs181255610	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	0.0001	0.0010	0.0009	0.0013	0.0004	0	2.519e-05	0.0002	0.0009	8.004e-05	0.0005	0.0005	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0007	0	0.0002	0	0	0.0001	0	0.0004	0.2	0.21718	T	0.265	0.24054	T	.	.	.	.	.	.	0.000041	0.53742	D	0.077647	0.997403	0.43861	D	0.345	0.11182	N	2.23	0.18083	T	-0.92	0.27669	N	0.134	0.16447	-1.0869	0.06066	T	0.031	0.13374	T	10	0.01676485	0.00355	T	0.003232	0.07117	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.41964612407487223	0.41880	0.402464485075	0.41201	0.410376131535	0.26509	T	0.082557	0.46901	T	-0.560524	0.00252	T	-0.585194	0.14084	T	0.0236671310973169	0.01103	T	.	.	.	0.05117204	0.09357	0.05872925	0.10903	0.05117204	0.09357	0.05872925	0.10902	-3.976	0.23443	T	.	.	0.067	0.07985	B	.;.;.;.;.	.;.;.;.;.	3.055270	0.41009	21.3	0.9970469303454309	0.80867	0.94355	0.60902	D	AEFBI	0.636262	0.61548	D	0.00103668317343658	0.41903	2.515	0.200552394676177	0.49877	3.185883	0.993435713134823	0.33214	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.689000	0.61410	4.616000	0.44056	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1223:0.0:0.8777:0.0	10.220	0.42371	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.015152	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1086.33	36	chr14	93577948	.	G	A	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.454;DP=737;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.512;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr14	93928563	93928563	G	C	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.G278C:p.G93A,FAM181A:NM_001207072:exon2:c.G278C:p.G93A,FAM181A:NM_001207073:exon2:c.G278C:p.G93A,FAM181A:NM_001207074:exon2:c.G278C:p.G93A,FAM181A:NM_138344:exon3:c.G464C:p.G155A	.	338	1178	5	1	0	7	0.00296234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00279553	0.0026	0	0	0	0	6.155e-05	0.0023	0.0183	0.0021216	328	154602	rs533878313	0.0011	0.0011	0.0006	0.0017	0.0180	0.0011	0.0011	0.0172	0.0169	5.974e-05	0	0	2.52e-05	0	0.0002	4.048e-05	0.0010	0.0180	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	7.215e-05	0	0	0	0.0002	0	0	4.411e-05	0	0.0145	0.72	0.10412	T	0.672	0.12107	T	0.965	0.56013	D	0.78	0.57283	P	0.103615	0.19739	U	0.263955	0.956222	0.26306	N	2.3	0.65703	M	1.82	0.25018	T	-0.37	0.13226	N	0.199	0.23125	-1.0857	0.06281	T	0.052	0.22153	T	10	0.0028927326	0.00046	T	.	.	.	0.076	0.22200	0.129	0.03412	0.128392430309	0.12331	0.05358845202913852	0.05300	0.0743505985231	0.08337	0.359137296677	0.19260	T	0.008381	0.07697	T	-0.4906	0.00645	T	-0.463209	0.26251	T	0.0549420401293615	0.06348	T	.	.	.	0.084708266	0.19618	0.12736589	0.30660	0.084708266	0.19617	0.12736589	0.30659	-3.838	0.22438	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.678345	0.34935	19.76	0.77098038543141312	0.11735	0.68217	0.33719	D	AEFDBCI	0.334725	0.43340	N	0.00199678149564077	0.41945	2.518246	0.00882434506056121	0.40123	2.390	0.8988805680932	0.26037	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.3	3.38	0.37806	1.418000	0.34389	8.150000	0.76709	0.590000	0.31872	0.569000	0.27497	1.000000	0.68203	0.984000	0.60418	0.0917:0.0:0.7431:0.1652	7.540	0.26902	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1173.33	37	chr14	93928563	.	G	C	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.643;DP=758;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.05;SOR=0.51	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1366	18	0	1	0
chr14	94079701	94079701	G	C	exonic	DDX24	.	nonsynonymous SNV	DDX24:NM_020414:exon2:c.C42G:p.S14R	.	424	1071	27	0	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0065	0.0277556	0.0123	0.0146	0.0017	0.1013	0.0020	0.0024	0.0033	0.0161	0.011507	1779	154602	rs79048773	0.0068	0.0068	0.0067	0.0068	0.0997	0.0067	0.0066	0.0971	0.0960	0.0155	0.0014	0	0.0997	0.0022	0.0069	0.0031	0.0107	0.0132	0.0100	0.0100	0.0095	0.0104	0.0966	0.0095	0.0094	0.0896	0.0868	0.0144	0.0462	0.0031	0	0.0966	0.0012	0	0.0032	0.0080	0.0168	0.147	0.24955	T	0.372	0.16376	T	0.003	0.11197	B	0.003	0.08700	B	0.964301	0.08202	N	0.987490	1	0.08975	N	2.085	0.57729	M	3.99	0.03268	T	-0.65	0.18877	N	0.131	0.12627	-0.9147	0.46259	T	0.001	0.00188	T	10	0.0021772683	0.00031	T	.	.	.	0.037	0.09474	0.276	0.22845	.	.	0.0776385997468939	0.07699	0.127185870883	0.14337	0.280981421471	0.07629	T	0.042187	0.26101	T	-0.752249	0.00017	T	-0.766477	0.02886	T	0.00278525104741722	0.00029	T	.	.	.	0.095035546	0.22357	0.064616844	0.12978	0.095035546	0.22357	0.064616844	0.12978	-2.312	0.04621	T	.	.	0.115	0.44796	B	.;.	.;.	1.433556	0.18522	13.78	0.61265338611876752	0.06666	0.40099	0.26361	N	AEFDBCI	.	.	.	-0.898693380233533	0.10873	0.5217948	-0.900289976453744	0.12087	0.6197318	0.999983851827432	0.51787	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.91	3.14	0.35196	0.608000	0.23921	1.261000	0.25231	-0.127000	0.13314	0.000000	0.06391	0.001000	0.17328	0.066000	0.16387	0.3123:0.0:0.6877:0.0	7.909	0.28941	361	0.84870	.;.	.	.	.	.	rs79048773	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.005435	0.014620	0.000000	0.008621	0.000000	0.015152	0.02632	1886.33	33	chr14	94079701	.	G	C	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.989;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.48;SOR=0.728	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr14	94100772	94100772	G	A	splicing	IFI27L1	NM_145249:exon3:c.61+1G>A;NM_206949:exon3:c.61+1G>A	.	.	.	415	1075	30	2	0	34	0.0155678	1.0000	0.934	.	2402208	Susceptibility_to_severe_COVID-19	.	no_assertion_criteria_provided	Likely_risk_allele	.	.	.	.	.	.	.	.	.	.	0.0002	0.00199681	0.0015	9.804e-05	0.0004	0	0	0.0010	0.0044	0.0066	0.0013519	209	154602	rs144379529	0.0010	0.0010	0.0008	0.0013	0.0136	0.0010	0.0010	0.0112	0.0103	8.963e-05	0.0006	0.0031	2.519e-05	1.882e-05	0.0136	0.0006	0.0016	0.0069	0.0009	0.0009	0.0006	0.0011	0.0062	0.0007	0.0007	0.0045	0.0039	7.228e-05	0	0.0021	0.0032	0.0002	0	0.0102	0.0007	0.0009	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.221173	0.17834	T	-0.0861905	0.64448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107629	0.41902	21.4	0.98652801330732154	0.44220	0.48862	0.28303	N	AEFGBI	.	.	.	0.660259185449755	0.77032	6.597697	0.388974521407639	0.60886	4.281241	0.999999705434156	0.74766	0.294411	0.05044	0	0.332522	0.05826	0	0.175069	0.04249	0	0.092715	0.02821	0	0.92792	0.58901	2.98	2.98	0.33575	1.002000	0.29397	2.846000	0.35110	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	9.821	0.40051	365	0.84644	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1275.33	40	chr14	94100772	.	G	A	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.072;DP=851;ExcessHet=0;FS=2.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.115;SOR=0.639	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H,PPP4R4:NM_020958:exon3:c.A201C:p.Q67H,PPP4R4:NM_058237:exon3:c.A201C:p.Q67H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	922.33	41	chr14	94208473	.	A	C	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.263;DP=721;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.78;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr14	94284071	94284071	A	C	exonic	SERPINA10	.	nonsynonymous SNV	SERPINA10:NM_001100607:exon5:c.T1229G:p.M410R,SERPINA10:NM_016186:exon5:c.T1229G:p.M410R	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	.	7.7e-05	0.0139776	0.0053	9.639e-05	0.0002	0.0262	0	7.499e-05	0.0033	0.0242	0.004793	741	154602	rs117152910	0.0023	0.0023	0.0018	0.0029	0.0274	0.0022	0.0022	0.0261	0.0255	8.961e-05	6.708e-05	0	0.0274	0	0.0010	6.925e-05	0.0033	0.0233	0.0018	0.0018	0.0013	0.0023	0.0292	0.0016	0.0016	0.0253	0.0238	0.0001	0	0.0001	0	0.0231	0	0	5.88e-05	0.0009	0.0292	0.006	0.61437	D	0.018	0.61642	D	0.946	0.53363	P	0.66	0.52803	P	0.000475	0.44119	D	0.158112	0.568655	0.31197	N	1.475	0.37068	L	-1.77	0.83660	D	-3.5	0.68178	D	0.276	0.33796	-0.2843	0.75423	T	0.302	0.67325	T	10	0.008633882	0.00196	T	.	.	.	0.443	0.74588	.	.	0.631807247623	0.62879	0.5072854969276409	0.50650	0.106591216844	0.12050	0.320922374725	0.13562	T	0.343787	0.71239	T	-0.292172	0.09419	T	-0.168087	0.57619	T	0.0840573494702751	0.10497	T	0.668433	0.27736	T	0.84306145	0.86828	0.65991807	0.80076	0.84306145	0.86829	0.65991807	0.80077	-5.663	0.43363	T	.	.	0.143	0.41372	B	.;.;.;.	.;.;.;.	1.589219	0.20330	14.70	0.64661919935627332	0.07556	0.85341	0.44464	D	AEFBI	0.589434	0.58631	D	-0.154314998402727	0.35050	2.008468	-0.197898483785191	0.31613	1.790772	0.617054183586573	0.21852	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.7	3.37	0.37692	1.871000	0.39176	4.640000	0.44151	-0.054000	0.16847	0.978000	0.35038	1.000000	0.68203	0.032000	0.13371	0.8623:0.0:0.1377:0.0	9.843	0.40181	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015267	0.02632	922.33	42	chr14	94284071	.	A	C	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.247;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.849;SOR=0.686	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.05263	3403.83	51	chr14	94290332	.	G	A	3403.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=1206;ExcessHet=0.119;FS=3.864;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.854;SOR=0.916	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	17	0	2	0
chr14	94364422	94364422	G	A	exonic	SERPINA2	.	unknown	UNKNOWN	.	422	1079	18	3	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0062241	162	26028	rs117934891	0.0034	0.0016	0.0033	0.0035	0.0685	0.0032	0.0031	0.0609	0.0580	0.0007	0	0	0.0234	4.687e-05	0.0031	0.0001	0.0034	0.0685	0.0033	0.0033	0.0021	0.0046	0.0631	0.0031	0.0030	0.0573	0.0550	0.0003	0	0.0001	0.0003	0.0337	0	0	0.0001	0.0014	0.0631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1849.33	33	chr14	94364422	.	G	A	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=784;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.007;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	18	0	1	0
chr14	94379513	94379513	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1016A:p.G339E,SERPINA1:NM_001002235:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127700:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127702:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127706:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127707:exon5:c.G1016A:p.G339E,SERPINA1:NM_001002236:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127701:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127703:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127704:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127705:exon6:c.G1016A:p.G339E	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.015284713241	.	.	.	.	.	.	.	.	.	.	0.0252805	658	26028	rs186298255	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.405e-05	0.0081	2.626e-05	0.0001	0.0002	4.066e-05	3.196e-05	5.533e-05	2.903e-05	2.445e-05	0	0.0002	0	0.0002	0.0004	0	1.502e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.004	0.10090	B	0.201876	0.03325	N	1.632050	1	0.08975	N	-0.055	0.04927	N	-1.63	0.82440	D	1.6	0.00652	N	0.084	0.06059	-0.7416	0.58370	T	0.175	0.51816	T	10	0.06385669	0.08383	T	0.015285	0.35936	T	0.152	0.39956	0.358	0.36060	0.708489977135	0.70594	0.28805864301383166	0.28718	0.0536714916649	0.05925	0.246817171574	0.03440	T	0.12283	0.44678	T	-0.214714	0.18721	T	-0.546198	0.17693	T	0.0226976832768117	0.00987	T	0.0435956	0.00682	T	0.099375755	0.23451	0.08960794	0.20963	0.099375755	0.23451	0.08960794	0.20963	-2.39	0.25083	T	0.10573163998153827	0.08417	0.074	0.11510	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.212546	0.00518	0.012	0.47182625122801897	0.03837	0.02891	0.07678	N	AEFDBHCI	0.440912	0.49928	N	-1.78089906355498	0.00593	0.025575	-1.76931647493546	0.00863	0.03855153	0.99999997204157	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	-8.5	0.00808	-2.165000	0.01360	-20.000000	0.00162	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.0:0.1294:0.2015:0.6691	10.136	0.41880	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.33	33	chr14	94379513	.	C	T	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1047;ExcessHet=0;FS=18.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-3.373;QD=0.42;ReadPosRankSum=1.75;SOR=1.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	18	0	1	0
chr14	94448375	94448375	C	T	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.G400A:p.E134K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0915152074683	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs766702638	9.919e-05	9.919e-05	4.084e-05	0.0002	0.0016	8.578e-05	8.047e-05	0.0014	0.0013	0	0	0	0	0	0	3.597e-06	8.279e-05	0.0016	6.568e-05	6.562e-05	0	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.009	0.57480	D	0.028	0.54934	D	0.9	0.49598	P	0.564	0.49695	P	0.000284	0.46274	D	0.090604	0.791252	0.34389	D	1.855	0.49169	L	-1.82	0.84047	D	-2.5	0.54382	D	0.242	0.27316	0.475	0.90199	D	0.592	0.85430	D	10	0.17531481	0.32457	T	0.091515	0.75722	D	0.529	0.80128	0.63	0.76588	0.710509990972	0.70798	0.6122210136456354	0.61154	0.369069148346	0.38440	0.389128804207	0.23548	T	0.106571	0.41802	T	-0.203256	0.20336	T	-0.100118	0.63388	T	0.242952746539472	0.22554	T	0.818018	0.47523	T	0.3192664	0.54578	0.2716009	0.53063	0.3192664	0.54578	0.2716009	0.53062	-5.346	0.40396	T	.	.	0.252	0.48644	B	.	.	4.742442	0.76494	26.5	0.99916903009978641	0.98449	0.81714	0.41063	D	AEFDBI	0.493664	0.52978	N	0.360855176031116	0.59316	4.110	0.342241801886829	0.58043	3.972553	0.999888159771225	0.44867	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.231000	0.42654	3.951000	0.40674	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.001000	0.02609	0.0:0.7247:0.2753:0.0	14.810	0.69612	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1246.33	71	chr14	94448375	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=914;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.06;SOR=0.874	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:74,47:121:99:349,0,1393	1	0	17	1
chr14	94497803	94497803	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595A:p.G199S,SERPINA12:NM_001382267:exon2:c.G595A:p.G199S,SERPINA12:NM_173850:exon3:c.G595A:p.G199S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0220697038607	.	.	1.657e-05	0	8.655e-05	0	0	0	0	6.138e-05	1.29e-05	2	154602	rs780543581	9.599e-06	1.094e-05	1.091e-05	8.274e-06	4.535e-05	5.57e-06	4.36e-06	9.28e-06	4.57e-06	3.007e-05	4.535e-05	0	0	1.874e-05	0	4.504e-06	3.32e-05	3.494e-05	6.596e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.536	0.06891	T	0.763	0.04587	T	0.061	0.23190	B	0.032	0.22131	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.55	0.14455	N	-2.22	0.87038	D	-1.26	0.31778	N	0.059	0.03069	-0.8314	0.53211	T	0.312	0.68201	T	10	0.03345543	0.01523	T	0.02207	0.44919	T	0.086	0.25016	0.407	0.44066	0.203808441222	0.19973	0.5860574252687961	0.58535	0.0946809584513	0.10693	0.310091733932	0.11920	T	0.033973	0.23133	T	-0.299241	0.08733	T	-0.491769	0.23205	T	0.183420419692993	0.19449	T	0.660634	0.26999	T	0.23565502	0.46404	0.11694767	0.28232	0.23565502	0.46404	0.11694767	0.28231	-0.874	0.00870	T	.	.	0.141	0.32992	B	.;.	.;.	2.120086	0.26987	17.31	0.94329901930839288	0.24663	0.08570	0.14481	N	AEFCI	0.083475	0.16912	N	-0.926895484479263	0.10216	0.4871546	-0.853360606231547	0.13207	0.6838647	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	193.43	89	chr14	94497803	.	C	T	193.43	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-2.99;DP=1470;ExcessHet=0.119;FS=107.338;InbreedingCoeff=-0.1231;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.736;SOR=6.735	GT:AD:DP:GQ:PL	0/0:80,0:80:71:0,71,1713	13	0	2	4
chr14	94498021	94498021	T	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.A377C:p.K126T,SERPINA12:NM_001382267:exon2:c.A377C:p.K126T,SERPINA12:NM_173850:exon3:c.A377C:p.K126T	.	.	.	.	.	.	.	.	.	.	.	2198982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0166069173655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056703619	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.597e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.363	0.11807	T	0.411	0.14500	T	0.004	0.12183	B	0.02	0.19048	B	0.061263	0.02143	N	1.948280	1	0.08975	N	0.165	0.08973	N	-1.85	0.84267	D	-0.64	0.18670	N	0.166	0.17553	-0.8112	0.54478	T	0.259	0.62988	T	10	0.05366823	0.05593	T	0.016607	0.37948	T	0.205	0.49236	0.517	0.61763	0.20549828249	0.20151	0.14959693696939688	0.14881	0.0286366123003	0.02943	0.219514638186	0.01282	T	0.040204	0.25449	T	-0.135591	0.30593	T	-0.432543	0.29646	T	0.0607323903854321	0.07283	T	0.318368	0.06377	T	0.24082002	0.46989	0.047973096	0.07027	0.24082002	0.46989	0.047973096	0.07026	-3.011	0.10300	T	.	.	0.091	0.14339	B	.;.	.;.	0.116360	0.05149	1.670	0.96133854143222974	0.28814	0.08001	0.13981	N	AEFDCI	0.095448	0.19284	N	-1.23221119113233	0.04539	0.2050876	-1.22455930454425	0.05518	0.2631081	0.835262911938697	0.24766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	-2.12	0.06766	-0.806000	0.04632	-0.198000	0.10972	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1499:0.179:0.1549:0.5162	2.394	0.04118	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2814.33	47	chr14	94498021	.	T	G	2814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.792;DP=1011;ExcessHet=0;FS=4.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.09;SOR=0.699	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	18	0	1	0
chr14	94564002	94564002	G	A	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.G631A:p.D211N,SERPINA4:NM_001289033:exon2:c.G520A:p.D174N,SERPINA4:NM_006215:exon2:c.G520A:p.D174N	.	.	.	.	.	.	.	.	.	.	.	2198983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0231216518306	.	0.000199681	8.237e-06	9.61e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs550133117	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.791	0.04181	T	0.217	0.30183	B	0.119	0.32162	B	0.056515	0.22555	N	0.363396	1	0.25520	N	0.785	0.19527	N	-1.69	0.82985	D	-1.04	0.27259	N	0.032	0.00825	-0.8674	0.50724	T	0.271	0.64308	T	10	0.085470796	0.14432	T	0.023122	0.46062	T	0.200	0.48430	0.501	0.59304	0.739289437723	0.73695	0.1608678814389949	0.16007	0.0677330139699	0.07574	0.336840867996	0.15964	T	0.218237	0.58090	T	-0.336578	0.05629	T	-0.53972	0.18323	T	0.0995960086584091	0.12313	T	0.492951	0.15215	T	0.05341044	0.10104	0.029635688	0.01324	0.05341044	0.10104	0.029635688	0.01323	-4.299	0.28163	T	.	.	0.107	0.20157	B	.;.;.	.;.;.	0.671255	0.10395	7.121	0.96901560096837547	0.31539	0.21766	0.21517	N	AEFDBCI	0.749036	0.69060	D	-0.88776148089463	0.11132	0.535624	-0.84949661750038	0.13299	0.6891667	0.992852722673434	0.32993	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.41	2.58	0.30011	1.855000	0.39018	-2.385000	0.03820	-0.106000	0.15538	0.117000	0.23121	0.000000	0.08366	0.002000	0.04165	0.4035:0.0:0.5965:0.0	6.488	0.21298	846	0.36215	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3386.33	38	chr14	94564002	.	G	A	3386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=939;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.081;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	94614458	94614458	C	T	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon2:c.C17T:p.P6L,SERPINA3:NM_001384672:exon2:c.C17T:p.P6L,SERPINA3:NM_001384673:exon3:c.C17T:p.P6L,SERPINA3:NM_001384674:exon3:c.C17T:p.P6L	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	402	1116	4	0	0	4	0.00178891	.	.	.	2389787	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0207847150305	0.0005	.	0.0008	9.722e-05	0.0006	0	0.0015	0.0010	0.0011	0.0002	0.0006533	101	154602	rs138583013	0.0005	0.0005	0.0005	0.0006	0.0010	0.0005	0.0005	0.0005	0.0005	0.0002	0.0006	0.0004	0	0.0010	0.0010	0.0006	0.0006	0.0001	0.0006	0.0006	0.0004	0.0007	0.0007	0.0005	0.0004	0.0006	0.0005	7.221e-05	0	0.0007	0	0	0.0017	0	0.0007	0	0.0002	0.273	0.19569	T	0.758	0.04669	T	0.061	0.23190	B	0.038	0.23361	B	0.996543	0.07937	N	1.001760	1	0.08975	N	1.06	0.26948	L	-2.06	0.85875	D	-1.29	0.32387	N	0.155	0.16028	-0.8223	0.53790	T	0.300	0.67139	T	10	0.016086698	0.00338	T	0.020785	0.43452	T	0.280	0.59740	.	.	0.461671691612	0.45793	0.20732443865889624	0.20648	0.0112301617491	0.01048	0.294306576252	0.09555	T	0.100506	0.40638	T	-0.340903	0.05325	T	-0.320235	0.42549	T	0.00338800997630741	0.00036	T	0.546745	0.18722	T	0.024086144	0.01207	0.031890433	0.01843	0.024086144	0.01207	0.031890433	0.01842	-3.296	0.13686	T	.	.	0.138	0.36574	B	.;.;.;.	.;.;.;.	-0.015699	0.04177	1.008	0.61300340078560744	0.06674	0.04506	0.10129	N	AEFDBCI	0.171590	0.29857	N	-1.14605329812509	0.05844	0.2675333	-1.14126953986211	0.06926	0.3350556	0.998490299748278	0.37071	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.61	-0.277	0.12260	-1.854000	0.01757	-5.156000	0.01827	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	0.0:0.3934:0.3392:0.2673	4.229	0.10048	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1152.33	34	chr14	94614458	.	C	T	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=722;ExcessHet=0;FS=0.914;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.274;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1135:.	18	0	1	0
chr14	95108460	95108460	G	A	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon14:c.C2300T:p.P767L,DICER1:NM_001271282:exon15:c.C2300T:p.P767L,DICER1:NM_001291628:exon15:c.C2300T:p.P767L,DICER1:NM_177438:exon15:c.C2300T:p.P767L,DICER1:NM_030621:exon17:c.C2300T:p.P767L	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	.	.	.	.	.	.	.	.	.	1011325	DICER1-related_tumor_predisposition	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0140039447342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.39820	T	0.009	0.67890	D	0.007	0.14184	B	0.003	0.08700	B	0.000002	0.62929	D	0.102208	1	0.81001	D	1.545	0.39105	L	0.25	0.59449	T	-4.95	0.81910	D	0.539	0.59223	-0.9587	0.39424	T	0.172	0.51484	T	10	0.39688158	0.55289	T	0.014004	0.33816	T	0.282	0.59981	0.403	0.43408	0.821663004155	0.81998	0.6332299385704449	0.63256	0.554114867247	0.52161	0.644695520401	0.59231	T	0.835376	0.96110	D	0.112925	0.65653	D	-0.0755678	0.65226	T	0.98717737197876	0.77723	D	0.960104	0.84924	D	0.29814208	0.52738	0.4434339	0.67560	0.29814208	0.52738	0.4434339	0.67560	-8.987	0.67613	D	0.41923108898755945	0.50826	0.102	0.18037	B	.;.;.;.;.	.;.;.;.;.	4.836593	0.78926	27.0	0.99104039199946192	0.52546	0.97700	0.76507	D	AEFDGBI	0.635213	0.61481	D	0.106067338585429	0.46746	2.910267	0.308221832932014	0.56021	3.765129	0.999999976748998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.416000	0.73240	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.096	0.97848	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2020.33	33	chr14	95108460	.	G	A	2020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=816;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.122;SOR=0.56	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr14	95221756	95221756	A	C	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon4:c.T259G:p.S87A	.	430	1091	1	0	0	1	0.000458085	.	.	.	2377338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.0368872147134	.	.	3.298e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs756412157	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	2.995e-05	2.038e-05	5.974e-05	0	0	0	0	0.0002	5.396e-06	3.312e-05	6.957e-05	6.567e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.105	0.38016	T	1.0	0.90584	D	0.992	0.80445	D	0.003557	0.34793	N	0.000000	0.997908	0.44305	D	1.1	0.28011	L	0.19	0.60236	T	-1.88	0.43906	N	0.679	0.68603	-0.5382	0.67232	T	0.234	0.60112	T	10	0.5656942	0.65037	D	0.036887	0.57273	D	0.406	0.71869	0.61	0.74300	0.812916816524	0.81116	0.2946995040472106	0.29382	0.494870314576	0.48037	0.566336810589	0.48161	T	0.477583	0.82495	T	-0.0962263	0.37050	T	-0.173345	0.57136	T	0.539857089519501	0.34098	D	0.824718	0.48720	T	0.1276602	0.29866	0.12917846	0.31066	0.1276602	0.29866	0.12917846	0.31065	-9.35	0.69921	D	.	.	0.342	0.56038	A	.;.;.	.;.;.	4.670838	0.74647	26.2	0.99262581176382059	0.57255	0.98624	0.84831	D	AEFBIJ	0.886748	0.81841	D	0.574387460544338	0.71580	5.672383	0.610377699474355	0.75691	6.355807	0.999999999978164	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.675528	0.61593	0	0.668105	0.65232	0	.	.	5.19	5.19	0.71428	8.187000	0.89659	11.052000	0.85313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.365000	0.25999	1.0:0.0:0.0:0.0	15.378	0.74348	957	0.09725	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	2979.77	33	chr14	95221756	.	A	C	2979.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.677;DP=766;ExcessHet=0;FS=0.646;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-1.522;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	17	1	1	0
chr14	95455663	95455663	G	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon6:c.C851T:p.A284V,SYNE3:NM_001384281:exon6:c.C851T:p.A284V,SYNE3:NM_001384282:exon6:c.C851T:p.A284V,SYNE3:NM_001384284:exon6:c.C851T:p.A284V,SYNE3:NM_152592:exon6:c.C851T:p.A284V,SYNE3:NM_001384283:exon7:c.C875T:p.A292V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00313406598917	7.7e-05	.	6.601e-05	0.0002	0.0002	0	0	1.502e-05	0	0.0002	5.17e-05	8	154602	rs143391386	2.531e-05	2.531e-05	1.634e-05	3.438e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	5.974e-05	4.472e-05	0	0	3.747e-05	0	5.396e-06	0	0.0003	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.498534	0.11976	N	0.676502	1	0.08975	N	-0.905	0.01334	N	3.48	0.35405	T	-0.26	0.11185	N	0.061	0.03283	-0.9968	0.30810	T	0.016	0.06569	T	10	0.019228846	0.00427	T	0.003134	0.06815	T	0.006	0.00375	.	.	0.167679373172	0.16340	0.03700334798635665	0.03647	0.110443629434	0.12463	0.247046798468	0.03463	T	0.005521	0.08746	T	-0.546171	0.00308	T	-0.762634	0.03018	T	0.00568478554487228	0.00062	T	0.106589	0.00797	T	0.012150994	0.00028	0.02418371	0.00434	0.012150994	0.00028	0.02418371	0.00434	-6.43	0.49782	T	.	.	0.070	0.08368	B	.;.;.;.	.;.;.;.	-1.033805	0.00724	0.022	0.16228201298136261	0.00427	0.00562	0.02559	N	AEFDBI	0.028078	0.02407	N	-1.89174190125743	0.00357	0.01533619	-1.90250315823305	0.00484	0.02144597	0.999999844896309	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.99	-7.67	0.01133	-1.018000	0.03737	-4.857000	0.01954	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.352:0.0843:0.3967:0.1669	3.850	0.08460	953	0.10115	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5801.81	39	chr14	95455663	.	G	A	5801.81	.	AC=2;AF=0.053;AN=38;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.19;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	1	0	0
chr14	95457196	95457196	T	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon5:c.A770T:p.Q257L,SYNE3:NM_001384281:exon5:c.A770T:p.Q257L,SYNE3:NM_001384282:exon5:c.A770T:p.Q257L,SYNE3:NM_001384284:exon5:c.A770T:p.Q257L,SYNE3:NM_152592:exon5:c.A770T:p.Q257L,SYNE3:NM_001384283:exon6:c.A794T:p.Q265L	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00373828091498	.	0.000399361	0.0002	0	8.639e-05	0	0	6.017e-05	0	0.0012	0.0001746	27	154602	rs572049296	5.268e-05	5.267e-05	3.539e-05	7.013e-05	0.0007	4.278e-05	3.953e-05	0.0005	0.0005	0	0	0	0	0	0	1.079e-05	9.936e-05	0.0007	4.603e-05	4.597e-05	1.286e-05	8.075e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.567	0.07797	T	0.227	0.25514	T	0.0	0.02946	B	0.002	0.06944	B	0.441815	0.04764	N	1.450400	1	0.08975	N	-0.92	0.01311	N	3.48	0.10386	T	-3.38	0.71639	D	0.16	0.16725	-0.9683	0.37551	T	0.016	0.06473	T	10	0.009282857	0.00210	T	0.003738	0.08682	T	0.020	0.03691	0.431	0.48007	0.110078149338	0.10416	0.07953082250835923	0.07888	0.108456008198	0.12232	0.253676563501	0.04165	T	0.061848	0.31762	T	-0.599816	0.00146	T	-0.690718	0.06348	T	0.0191438981736975	0.00621	T	0.281772	0.04941	T	0.0844535	0.19549	0.05716512	0.10342	0.0844535	0.19549	0.05716512	0.10341	-7.085	0.54652	T	.	.	0.087	0.11366	B	.;.;.	.;.;.	0.098266	0.05004	1.559	0.66048239734979919	0.07946	0.06684	0.12703	N	AEFDGBHIJ	0.081478	0.16486	N	-1.31171785271052	0.03540	0.1583146	-1.34663210700611	0.03845	0.1802211	0.999999848114797	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.17	-2.35	0.06302	0.121000	0.15496	-2.027000	0.04324	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1496:0.2224:0.1139:0.5141	1.384	0.02101	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	814.33	46	chr14	95457196	.	T	A	814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.996;DP=883;ExcessHet=0;FS=7.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.06;SOR=0.27	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1344	18	0	1	0
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.02632	1258.33	40	chr14	96264403	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=829;ExcessHet=0;FS=2.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.363;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	18	0	1	0
chr14	96328684	96328684	C	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.G1964C:p.R655T	.	440	1074	8	0	0	8	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	8.5e-05	0.0131789	0.0070	0	0.0005	0	0	1.505e-05	0.0022	0.0504	0.0061189	946	154602	rs199989694	0.0029	0.0030	0.0016	0.0042	0.0472	0.0028	0.0028	0.0459	0.0454	0.0001	9.195e-05	0	5.051e-05	0	0.0014	2.524e-05	0.0031	0.0472	0.0017	0.0017	0.0008	0.0025	0.0516	0.0015	0.0014	0.0464	0.0443	2.407e-05	0	6.543e-05	0	0	0	0	2.941e-05	0	0.0516	0.035	0.43708	D	0.132	0.34477	T	0.058	0.22967	B	0.033	0.22329	B	0.000346	0.45440	U	0.143817	0.990916	0.41265	D	1.05	0.26816	L	2.94	0.09728	T	-2.22	0.49846	N	0.305	0.34444	-1.0854	0.06335	T	0.030	0.12804	T	10	0.0022633672	0.00033	T	.	.	.	0.055	0.15663	.	.	0.295623431141	0.29171	0.354991172353778	0.35413	0.262681463261	0.28831	0.32231092453	0.13770	T	0.003268	0.02677	T	-0.559205	0.00257	T	-0.53953	0.18342	T	0.0334479469417272	0.02546	T	0.859214	0.55036	D	0.09358739	0.21984	0.096903406	0.23044	0.09358739	0.21983	0.096903406	0.23044	-4.542	0.31434	T	.	.	0.108	0.20430	B	.	.	2.478948	0.31965	18.90	0.97097530846531355	0.32353	0.90345	0.51447	D	AEFBI	0.307555	0.41440	N	-0.215588331932025	0.32495	1.833115	-0.116410483050946	0.34728	2.000938	0.180204542403627	0.17861	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	1.53	0.22224	0.936000	0.28536	2.189000	0.31192	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.6299:0.0:0.3701	9.276	0.36859	966	0.07191	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	683.33	32	chr14	96328684	.	C	G	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.567;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	295.95	35	chr14	96328709	.	G	C	295.95	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-1.009;DP=859;ExcessHet=0.7564;FS=144.371;InbreedingCoeff=-0.2105;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.291;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,6:49:60:.:.:0,60,822:.	10	0	4	5
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	201.76	34	chr14	96328715	.	G	C	201.76	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.308;DP=809;ExcessHet=0.3672;FS=161.501;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.208;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:33:.:.:0,33,856:.	14	0	3	2
chr14	96343124	96343124	G	A	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon5:c.C739T:p.P247S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0099	0.0109824	0.0029	0.0325	0.0008	0	0	0.0001	0.0023	0	0.002749	425	154602	rs61978568	0.0011	0.0011	0.0012	0.0009	0.0382	0.0010	0.0010	0.0364	0.0357	0.0382	0.0014	0.0004	0	0	0.0037	9.329e-05	0.0022	7.738e-05	0.0086	0.0087	0.0088	0.0085	0.0299	0.0083	0.0081	0.0285	0.0280	0.0299	0	0.0025	0.0003	0	9.452e-05	0.0068	0.0002	0.0085	0.0002	0.148	0.24857	T	0.491	0.11515	T	0.003	0.11197	B	0.002	0.06944	B	0.066119	0.21833	U	0.175635	0.708328	0.30038	N	0.255	0.09829	N	3.01	0.09075	T	-1.32	0.32991	N	0.218	0.24385	-1.0422	0.16651	T	0.004	0.01261	T	10	0.002218634	0.00032	T	.	.	.	0.091	0.26358	.	.	0.24896430686	0.24499	0.2838660515714775	0.28299	0.177357780111	0.19957	0.393960267305	0.24226	T	0.004032	0.03443	T	-0.531808	0.00375	T	-0.513684	0.20937	T	0.0167721531086214	0.00433	T	0.892111	0.62800	D	0.12477952	0.29268	0.111203775	0.26822	0.12477952	0.29267	0.111203775	0.26821	-4.047	0.24504	T	.	.	0.068	0.02765	B	.	.	2.743546	0.35944	20.1	0.98973859351361582	0.49580	0.93245	0.57704	D	AEFI	0.304594	0.41225	N	-0.357609084118033	0.26993	1.477579	-0.0977857194375228	0.35481	2.053312	0.998378309690135	0.36850	0.651	0.46895	0	0.546412	0.12157	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	4.93	0.64394	5.603000	0.67304	8.511000	0.77390	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1289:0.8711:0.0	16.795	0.85461	960	0.08626	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.016304	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	508.33	30	chr14	96343124	.	G	A	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=644;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=0.172;SOR=1.042	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1444	18	0	1	0
chr14	96382420	96382420	G	A	exonic	GSKIP	.	nonsynonymous SNV	GSKIP:NM_001271906:exon2:c.G173A:p.R58Q,GSKIP:NM_001271904:exon3:c.G173A:p.R58Q,GSKIP:NM_001271905:exon3:c.G173A:p.R58Q,GSKIP:NM_016472:exon3:c.G173A:p.R58Q	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0042637808117	7.7e-05	.	0.0002	0	0	0	0	7.493e-05	0	0.0013	0.0001876	29	154602	rs149577622	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	4.472e-05	0	2.52e-05	0	0.0003	0.0001	0.0003	0.0006	9.866e-05	9.852e-05	9.003e-05	0.0001	0.0006	6.013e-05	4.885e-05	0.0002	9.003e-05	0	0	6.551e-05	0	0	0	0	0.0002	0	0.0006	0.013	0.53900	D	0.599	0.26467	T	0.156	0.28196	B	0.027	0.21085	B	0.003007	0.35573	N	0.355854	0.998583	0.22057	N	0.55	0.14455	N	.	.	.	0.83	0.02068	N	0.123	0.11483	-1.0325	0.19650	T	0.044	0.18783	T	9	0.026693314	0.00830	T	0.004264	0.10310	T	0.046	0.12618	.	.	0.0934897674506	0.08844	0.23383954646144595	0.23298	0.474208932683	0.46613	0.332076072693	0.15249	T	0.053626	0.29495	T	-0.427166	0.01542	T	-0.436811	0.29166	T	0.0433102812564113	0.04295	T	0.863414	0.55914	D	0.046107553	0.07661	0.06599964	0.13458	0.046107553	0.07660	0.06599964	0.13458	-4.095	0.25216	T	.	.	0.073	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	3.286043	0.45040	22.1	0.99882053073137289	0.95813	0.81971	0.41273	D	AEFBI	0.182143	0.30947	N	-0.295009019373739	0.29339	1.626204	-0.119247373309077	0.34614	1.993093	0.91314128271047	0.26414	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	2.7	0.31007	1.841000	0.38881	2.554000	0.33279	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.0903:0.563:0.3468:0.0	10.077	0.41537	934	0.15400	GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain;GSKIP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1185.33	34	chr14	96382420	.	G	A	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=811;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.175;SOR=0.913	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1161	18	0	1	0
chr14	96398119	96398130	AGAGGAAGAGGA	-	exonic	AK7	.	nonframeshift deletion	AK7:NM_001350888:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350890:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350891:exon2:c.150_161del:p.E53_E56del,AK7:NM_001350892:exon2:c.150_161del:p.E53_E56del,AK7:NM_152327:exon2:c.150_161del:p.E53_E56del	.	421	1098	3	0	0	3	0.00136426	.	.	.	1430068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0002	0	0	0.0007	0.0011	0	0.0002689	7	26028	rs776901819	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	0.0004	0	0	0	0.0005	0.0007	0.0006	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0002	0.0002	0.0004	0.0004	7.219e-05	0	0.0003	0	0	0	0	0.0006	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3306.29	41	chr14	96398118	.	CAGAGGAAGAGGA	C	3306.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.092;DP=962;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.163;SOR=0.792	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr14	96420858	96420858	C	T	exonic	AK7	.	stopgain	AK7:NM_001350888:exon5:c.C535T:p.R179X,AK7:NM_001350890:exon5:c.C535T:p.R179X,AK7:NM_001350891:exon5:c.C535T:p.R179X,AK7:NM_001350892:exon5:c.C535T:p.R179X,AK7:NM_152327:exon5:c.C535T:p.R179X	.	.	.	.	.	.	.	.	.	.	.	2014649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752126253	1.163e-05	1.163e-05	1.226e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	3.81e-06	2.76e-06	2.988e-05	0	0	2.52e-05	0	0.0002	8.097e-06	6.628e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002641	0.36173	N	0.222327	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.867	0.86404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457171	0.92802	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.107259	0.98474	39	0.99817543371143835	0.90061	0.77568	0.38153	D	AEFI	0.141268	0.26340	N	0.783759583996535	0.85078	8.470602	0.65772166355625	0.79189	7.029677	0.415071009235187	0.20245	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	2.922000	0.48557	5.702000	0.49384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.181:0.819:0.0:0.0	11.374	0.48958	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1410.33	39	chr14	96420858	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.327;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.027;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr14	99257616	99257616	G	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282237:exon2:c.C279A:p.D93E,BCL11B:NM_001282238:exon2:c.C279A:p.D93E,BCL11B:NM_022898:exon2:c.C282A:p.D94E,BCL11B:NM_138576:exon2:c.C282A:p.D94E	.	.	.	.	.	.	.	.	.	.	.	1897976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.050	0.0039326788737	.	0.000798722	0.0006	0	8.642e-05	0	0	0	0	0.0041	0.0004657	72	154602	rs570461424	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0	8.994e-07	0.0001	0.0044	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.662e-05	7.254e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.127	0.28520	T	0.543	0.11041	T	0.429	0.35556	B	0.05	0.25434	B	0.013315	0.28882	N	0.201473	0.968714	0.81001	D	1.355	0.33814	L	2.51	0.14284	T	-2.18	0.50175	N	0.251	0.39861	-1.0296	0.20583	T	0.023	0.09604	T	10	0.0068876147	0.00156	T	0.003933	0.09274	T	0.050	0.13987	0.269	0.21735	0.595711969413	0.59250	0.17752907044718652	0.17671	0.464731469048	0.45933	0.589256823063	0.51388	T	0.328872	0.69924	T	-0.482191	0.00718	T	-0.465144	0.26041	T	0.0548658057249467	0.06334	T	0.773323	0.40460	T	0.09210878	0.21599	0.12500615	0.30124	0.09210878	0.21599	0.12500615	0.30123	-8.719	0.65870	D	.	.	0.104	0.31482	B	.;.	.;.	1.937470	0.24609	16.46	0.99686050461114495	0.79574	0.85910	0.45099	D	AEFDBI	0.261685	0.37958	N	-0.0985237318334828	0.37457	2.179474	0.0342071318585576	0.41316	2.480085	0.999940312670506	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	3.6	0.40374	2.485000	0.44909	2.326000	0.32165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.4671:0.0:0.5329:0.0	4.796	0.12641	978	0.04198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1860.33	34	chr14	99257616	.	G	T	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.028;DP=760;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.543;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	18	0	1	0
chr14	100123541	100123541	C	A	exonic	EVL	.	nonsynonymous SNV	EVL:NM_001330221:exon4:c.C355A:p.P119T,EVL:NM_016337:exon4:c.C361A:p.P121T	.	426	1091	5	0	0	5	0.00228624	.	.	.	2378848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.112617856443	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs141817237	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0001	0.0007	2.519e-05	0	0.0019	8.634e-05	0.0003	0.0006	0.0001	0.0001	0.0001	8.058e-05	0.0002	7.087e-05	5.744e-05	0.0001	7.895e-05	0	0	0	0.0006	0	0	0.0068	0.0002	0	0.0002	0.004	0.91255	D	0.051	0.52060	T	0.201	0.90584	B	0.118	0.86255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	-0.69	0.78860	T	-5.77	0.91609	D	0.477	0.55106	0.292	0.87427	D	0.633	0.87127	D	10	0.14647883	0.27771	T	0.112618	0.79083	D	0.314	0.63588	.	.	0.733819335902	0.73144	0.2953604586173116	0.29449	0.662172756864	0.58958	0.480947971344	0.36187	T	0.65838	0.89718	D	-0.128531	0.31733	T	-0.0649176	0.65987	T	0.713741898536682	0.41384	D	0.893211	0.91493	D	0.59055734	0.72181	0.43985692	0.67324	0.59055734	0.72182	0.43985692	0.67325	-9.041	0.67961	D	.	.	0.070	0.08997	B	.;.;.;.;.;.	.;.;.;.;.;.	3.943087	0.57716	23.9	0.99331312211431155	0.59777	0.96475	0.69324	D	AEFDBI	0.485392	0.52500	N	0.533543245372391	0.69087	5.307397	0.541970309419874	0.70841	5.564801	0.999999999980973	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.693117	0.63056	0	0.727631	0.95156	0	.	.	5.22	5.22	0.72285	3.746000	0.54846	4.794000	0.44921	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.488	0.75310	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	985.33	34	chr14	100123541	.	C	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.981;DP=697;ExcessHet=0;FS=4.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.349;SOR=1.27	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	18	0	1	0
chr14	100293353	100293353	C	T	exonic	SLC25A29	.	nonsynonymous SNV	SLC25A29:NM_001039355:exon3:c.G103A:p.E35K,SLC25A29:NM_001352821:exon4:c.G262A:p.E88K	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0105291055195	.	0.000199681	0.0003	0.0002	0.0004	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs200054689	0.0003	0.0003	0.0002	0.0003	0.0016	0.0003	0.0002	0.0011	0.0011	2.987e-05	0.0004	0.0005	0	0	0.0016	0.0002	0.0004	0.0013	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.214e-05	0	0.0002	0.0009	0	0	0	0.0003	0.0005	0.0010	0.629	0.05167	T	0.888	0.03152	T	0.004	0.12183	B	0.012	0.16012	B	0.000143	0.49130	D	0.175049	0.998	0.81001	D	0.145	0.08828	N	-1.19	0.78427	T	0.64	0.02368	N	0.505	0.53708	-0.9027	0.47705	T	0.089	0.34188	T	10	0.1937531	0.35157	T	0.010529	0.27174	T	0.256	0.56694	.	.	0.825103455911	0.82345	0.35199688124628303	0.35113	0.404878859785	0.41375	0.384199380875	0.22850	T	0.098247	0.40187	T	-0.337055	0.05594	T	-0.321688	0.42388	T	0.00824125809977105	0.00099	T	0.951405	0.81464	D	0.12486877	0.29286	0.095071495	0.22531	0.12486877	0.29286	0.095071495	0.22530	-9.379	0.70104	D	.	.	0.187	0.40328	B	.	.	1.570548	0.20107	14.59	0.66878686511606755	0.08188	0.96002	0.67090	D	AEFDBI	0.660901	0.63131	D	-0.142427365819903	0.35557	2.04393	-0.0873930946859149	0.35909	2.083256	0.999999984424851	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.41	4.41	0.52588	2.237000	0.42709	4.753000	0.44671	0.549000	0.26987	0.981000	0.35396	0.990000	0.31317	0.114000	0.18915	0.1709:0.8291:0.0:0.0	12.175	0.53488	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1154.33	46	chr14	100293353	.	C	T	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.981;DP=828;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.21;SOR=0.46	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	18	0	1	0
chr14	100328814	100328814	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_207117:exon5:c.C416T:p.S139L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.114253467296	0.0002	0.000399361	0.0005	0.0003	0.0009	0	0	0.0007	0.0012	6.098e-05	0.0005433	84	154602	rs201454370	0.0010	0.0010	0.0010	0.0010	0.0013	0.0010	0.0009	0.0012	0.0011	0.0003	0.0013	0	2.519e-05	1.915e-05	0	0.0012	0.0008	2.319e-05	0.0009	0.0009	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0003	0	0.0024	0	0	9.407e-05	0	0.0011	0.0028	0	0.003	0.68238	D	0.182	0.29249	T	0.985	0.61118	D	0.507	0.47859	P	0.034611	0.01789	N	2.806850	1	0.81001	D	1.245	0.31408	L	-1.56	0.81815	D	-1.34	0.33401	N	0.37	0.41162	-0.4471	0.70496	T	0.504	0.81315	D	10	0.046824276	0.03922	T	0.114253	0.79304	D	0.330	0.65226	.	.	0.624672830597	0.62162	0.3240495720885148	0.32317	0.364669309741	0.38084	0.405321002007	0.25808	T	0.045403	0.27111	T	-0.217903	0.18280	T	-0.110407	0.62579	T	0.0700572557731226	0.08658	T	0.635836	0.24975	T	0.3205447	0.54686	0.4382608	0.67218	0.3205447	0.54686	0.4382608	0.67218	-4.096	0.25231	T	.	.	0.093	0.14247	B	.	.	2.242124	0.28630	17.86	0.99659317596354735	0.77820	0.75200	0.36809	D	AEFDBHCI	0.796345	0.72350	D	-0.0547802598610868	0.39390	2.322061	-0.0959566315296403	0.35557	2.058554	0.999999999999999	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	4.89	0.63387	2.261000	0.42932	1.261000	0.25231	0.599000	0.40250	0.012000	0.18695	0.267000	0.24023	0.156000	0.20513	0.0:1.0:0.0:0.0	18.034	0.89216	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1224.33	98	chr14	100328814	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.456;DP=1071;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=-1.144;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:99:.:.:0,120,1800:.	18	0	1	0
chr14	100329038	100329038	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon5:c.C202T:p.R68W,SLC25A47:NM_207117:exon5:c.C640T:p.R214W	.	422	1092	8	0	0	8	0.00364964	.	.	.	2807242	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.292	.	0.0033	0.00279553	0.0045	0.0006	0.0013	0.0004	0.0169	0.0053	0.0048	0.0032	0.0040814	631	154602	rs149283899	0.0045	0.0046	0.0044	0.0046	0.0089	0.0044	0.0044	0.0069	0.0062	0.0006	0.0017	0.0018	0.0003	0.0153	0.0089	0.0046	0.0039	0.0040	0.0038	0.0038	0.0032	0.0044	0.0045	0.0035	0.0034	0.0041	0.0039	0.0008	0	0.0014	0.0014	0.0002	0.0167	0.0102	0.0045	0.0033	0.0031	0.014	0.53172	D	0.015	0.61642	D	0.99	0.63424	D	0.659	0.52771	P	0.209982	0.16389	N	0.655295	0.999609	0.21886	N	2.14	0.59869	M	-1.21	0.78645	T	-2.87	0.60348	D	0.214	0.24010	-0.6530	0.62583	T	0.275	0.64722	T	10	0.008070886	0.00183	T	.	.	.	0.292	0.61157	.	.	0.713213672773	0.71070	0.5117693319778596	0.51098	0.625602768882	0.56732	0.264423131943	0.05429	T	0.041428	0.25853	T	-0.339582	0.05417	T	-0.259058	0.48918	T	0.0271329905904209	0.01563	T	0.719828	0.33277	T	0.24349463	0.47289	0.24505222	0.49984	0.24349463	0.47289	0.24505222	0.49983	-7.055	0.54435	T	.	.	0.093	0.22318	B	.;.	.;.	4.469724	0.69640	25.4	0.99908386432620599	0.97875	0.69346	0.34152	D	AEFDBHCI	0.938240	0.93715	D	0.0924172043808188	0.46109	2.856489	0.0618605294313406	0.42649	2.583331	0.999999949913218	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	3.93	0.44666	1.701000	0.37444	1.669000	0.27944	0.549000	0.26987	0.958000	0.33488	0.238000	0.23831	0.032000	0.13371	0.2556:0.7444:0.0:0.0	12.511	0.55351	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.008152	0.014706	0.000000	0.008621	0.000000	0.003788	0.02632	1657.33	42	chr14	100329038	.	C	T	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=867;ExcessHet=0;FS=2.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.156;SOR=0.475	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr14	100335036	100335036	C	T	exonic	WARS1	.	nonsynonymous SNV	WARS1:NM_213645:exon10:c.G1132A:p.D378N,WARS1:NM_213646:exon10:c.G1132A:p.D378N,WARS1:NM_004184:exon11:c.G1255A:p.D419N,WARS1:NM_173701:exon11:c.G1255A:p.D419N	.	428	1092	2	0	0	2	0.000914913	0.9991	0.948	YES	2477478	Neurodevelopmental_disorder_with_microcephaly_and_speech_delay,_with_or_without_brain_abnormalities	MONDO:MONDO:0957218,MedGen:C5830413,OMIM:620317	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.301	.	.	0.000199681	0.0004	9.638e-05	8.666e-05	0	0	3.01e-05	0.0011	0.0029	0.0003428	53	154602	rs550196955	0.0003	0.0003	0.0001	0.0004	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	2.521e-05	0	0.0017	3.149e-05	0.0002	0.0037	9.851e-05	9.843e-05	6.426e-05	0.0001	0.0019	6.004e-05	4.878e-05	0.0010	0.0007	0	0	0	0	0	0	0.0034	7.351e-05	0	0.0019	0.05	0.39575	D	0.119	0.36101	T	0.018	0.17786	B	0.03	0.21741	B	0.000000	0.84330	D	0.051278	1	0.81001	D	1.49	0.37298	L	-0.74	0.73205	T	-1.93	0.44852	N	0.212	0.30800	-0.2180	0.77204	T	0.463	0.79195	T	10	0.016776413	0.00355	T	0.091615	0.75740	D	0.301	0.62179	0.491	0.57732	0.715611795239	0.71311	0.6838345930203494	0.68322	0.46302476573	0.45817	0.432708799839	0.29579	T	0.348052	0.71609	T	-0.411813	0.01933	T	-0.367054	0.37232	T	0.101629134696159	0.12536	T	0.988589	0.96114	D	0.52023476	0.68273	0.2879645	0.54810	0.52023476	0.68274	0.2879645	0.54809	-8.084	0.61641	D	0.1732564547501966	0.21940	0.103	0.21390	B	.;.;.;.;.;.	.;.;.;.;.;.	4.470763	0.69666	25.4	0.9981558314286203	0.89885	0.97202	0.73292	D	AEFDGBHCI	0.951724	0.96654	D	0.246633516625505	0.53471	3.515943	0.341529700808954	0.58001	3.968078	0.999999999999998	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	7.450000	0.58952	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:1.0:0.0:0.0	19.129	0.93383	932	0.16191	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002060	0.000000	0.002717	0.003356	0.000000	0.000000	0.000000	0.003788	0.02632	614.33	33	chr14	100335036	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=686;ExcessHet=0;FS=1.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.55;SOR=0.443	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1324	18	0	1	0
chr14	100538200	100538200	C	A	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385100:exon5:c.G1467T:p.E489D,BEGAIN:NM_001159531:exon6:c.G1551T:p.E517D,BEGAIN:NM_001385093:exon6:c.G1524T:p.E508D,BEGAIN:NM_001385094:exon6:c.G1506T:p.E502D,BEGAIN:NM_001385095:exon6:c.G1488T:p.E496D,BEGAIN:NM_001385096:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385097:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385098:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385099:exon6:c.G1467T:p.E489D,BEGAIN:NM_001385101:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385103:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385104:exon6:c.G1359T:p.E453D,BEGAIN:NM_001385082:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385083:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385084:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385088:exon7:c.G1641T:p.E547D,BEGAIN:NM_001385089:exon7:c.G1608T:p.E536D,BEGAIN:NM_001385090:exon7:c.G1590T:p.E530D,BEGAIN:NM_001385091:exon7:c.G1587T:p.E529D,BEGAIN:NM_001385092:exon7:c.G1572T:p.E524D,BEGAIN:NM_001385102:exon7:c.G1359T:p.E453D,BEGAIN:NM_020836:exon7:c.G1551T:p.E517D,BEGAIN:NM_001385085:exon8:c.G1698T:p.E566D,BEGAIN:NM_001385086:exon8:c.G1680T:p.E560D,BEGAIN:NM_001385087:exon8:c.G1677T:p.E559D	.	.	.	.	.	.	.	.	.	.	.	4100921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.06812326728	.	0.000199681	0.0004	0.0008	0	0.0004	0	0	0	0.0016	9.06e-05	14	154602	rs553312951	6.206e-05	6.498e-05	4.237e-05	8.215e-05	0.0008	5.091e-05	4.756e-05	0.0006	0.0006	0.0002	0	0	0.0005	0	0	0	3.446e-05	0.0008	6.57e-05	6.562e-05	2.571e-05	0.0001	0.0004	3.516e-05	2.616e-05	7.873e-05	5.576e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0.0004	0.744	0.03653	T	0.365	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.130300	0.18664	N	0.564050	0.638847	0.30634	N	0.56	0.15190	N	.	.	.	-0.5	0.15782	N	0.03	0.01999	-1.0056	0.28277	T	0.047	0.20037	T	9	0.01943037	0.00434	T	0.068123	0.70362	D	0.075	0.21907	0.109	0.01988	0.161926535498	0.15789	0.08054970003519601	0.07989	0.390963386496	0.40301	0.8610932827	0.91273	D	0.011708	0.10405	T	-0.532607	0.00371	T	-0.651111	0.08877	T	0.0101379051105296	0.00137	T	0.612539	0.23323	T	0.03887498	0.05263	0.041795876	0.04833	0.03887498	0.05263	0.041795876	0.04833	-3.758	0.20178	T	.	.	0.087	0.11076	B	.;.;.;.	.;.;.;.	0.307785	0.06832	3.357	0.95272123432779776	0.26555	0.71733	0.35141	D	AEFBCI	0.204762	0.33117	N	-0.8360874754505	0.12395	0.6039211	-0.751318513095325	0.15690	0.8264374	0.989236088008516	0.31763	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.72	-0.279	0.12252	0.148000	0.16042	-2.308000	0.03920	0.516000	0.23499	0.691000	0.28541	0.000000	0.08366	0.042000	0.14466	0.1228:0.2828:0.4573:0.137	4.17	0.09789	887	0.27948	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	731.33	34	chr14	100538200	.	C	A	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=681;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.815;SOR=0.575	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,106,1057	18	0	1	0
chr14	101809992	101809992	A	G	exonic	PPP2R5C	.	nonsynonymous SNV	PPP2R5C:NM_001352912:exon1:c.A50G:p.N17S,PPP2R5C:NM_002719:exon1:c.A50G:p.N17S,PPP2R5C:NM_178586:exon1:c.A50G:p.N17S,PPP2R5C:NM_178587:exon1:c.A50G:p.N17S	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00476706594794	0.0002	0.000599042	0.0004	0	0	0	0	0.0001	0.0033	0.0024	0.000401	62	154602	rs143316004	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0022	0.0020	0	0	0	0	3.744e-05	0.0005	0.0001	0.0003	0.0024	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.249e-05	0.0019	0.0016	2.412e-05	0	0	0	0	0	0	0.0001	0.0005	0.0031	0.426	0.28772	T	0.832	0.92824	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	-0.3	0.03631	N	1.02	0.40749	T	-0.15	0.46337	N	0.125	0.21319	-1.0382	0.17863	T	0.037	0.15813	T	9	0.006241113	0.00141	T	0.004767	0.11910	T	0.069	0.20116	.	.	0.422413330959	0.41862	.	.	.	.	.	.	.	0.003541	0.04592	T	-0.611695	0.00124	T	-0.656671	0.08493	T	0.0499143465834089	0.05485	T	0.875712	0.59309	D	0.040288653	0.05722	0.1180873	0.28506	0.040288653	0.05722	0.1180873	0.28505	-2.32	0.06190	T	0.1201505841588372	0.11270	0.054	0.06114	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.372554	0.17831	13.39	0.78672526710260315	0.12402	0.65588	0.32788	D	ALL	0.147032	0.27062	N	-0.795884030687204	0.13417	0.6607974	-0.625635770915684	0.18835	1.007959	0.999999999995616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	-2.34	0.06321	0.512000	0.22461	0.070000	0.14249	0.756000	0.94297	0.990000	0.36992	0.178000	0.23398	1.000000	0.97212	0.5858:0.0:0.4142:0.0	11.109	0.47442	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1247.33	37	chr14	101809992	.	A	G	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.581;DP=744;ExcessHet=0;FS=3.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.176;SOR=0.415	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1324	18	0	1	0
chr14	102084918	102084923	TTCTTT	-	exonic	HSP90AA1	.	nonframeshift deletion	HSP90AA1:NM_005348:exon5:c.739_744del:p.K247_E248del,HSP90AA1:NM_001017963:exon6:c.1105_1110del:p.K369_E370del	.	428	1092	1	0	1	2	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	0.00379393	0.0052	0.0015	0.0014	0.0007	0.0466	0.0030	0.0154	0.0029	0.0008068	21	26028	rs569990167	0.0026	0.0026	0.0027	0.0025	0.0024	0.0025	0.0025	0.0021	0.0020	0.0012	0.0010	0.0001	0.0008	0.0457	0.0016	0.0007	0.0027	0.0024	0.0044	0.0044	0.0028	0.0062	0.0019	0.0041	0.0040	0.0012	0.0011	0.0015	0	0.0005	0.0003	0.0008	0.0472	0	0.0012	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4255.29	68	chr14	102084917	.	CTTCTTT	C	4255.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=1325;ExcessHet=0;FS=0.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=3.16;SOR=0.752	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr14	102209542	102209542	G	A	exonic	WDR20	.	nonsynonymous SNV	WDR20:NM_001242416:exon2:c.G1189A:p.V397I,WDR20:NM_001353659:exon2:c.G1225A:p.V409I,WDR20:NM_001353665:exon2:c.G853A:p.V285I,WDR20:NM_001353671:exon2:c.G853A:p.V285I,WDR20:NM_181308:exon2:c.G1189A:p.V397I,WDR20:NM_001242418:exon3:c.G1408A:p.V470I,WDR20:NM_001353656:exon3:c.G1372A:p.V458I,WDR20:NM_001353657:exon3:c.G1372A:p.V458I,WDR20:NM_001353662:exon3:c.G853A:p.V285I,WDR20:NM_001353664:exon3:c.G853A:p.V285I,WDR20:NM_001353668:exon3:c.G853A:p.V285I,WDR20:NM_001353674:exon3:c.G853A:p.V285I,WDR20:NM_001353675:exon3:c.G601A:p.V201I,WDR20:NM_001353676:exon3:c.G601A:p.V201I,WDR20:NM_001353678:exon3:c.G601A:p.V201I,WDR20:NM_144574:exon3:c.G1372A:p.V458I,WDR20:NM_181291:exon3:c.G1372A:p.V458I,WDR20:NM_001242417:exon4:c.G1465A:p.V489I,WDR20:NM_001330228:exon4:c.G1465A:p.V489I,WDR20:NM_001353658:exon4:c.G1222A:p.V408I,WDR20:NM_001353660:exon4:c.G1222A:p.V408I,WDR20:NM_001353661:exon4:c.G979A:p.V327I,WDR20:NM_001353663:exon4:c.G853A:p.V285I,WDR20:NM_001353666:exon4:c.G853A:p.V285I,WDR20:NM_001353669:exon4:c.G853A:p.V285I,WDR20:NM_001353670:exon4:c.G853A:p.V285I,WDR20:NM_001353672:exon4:c.G853A:p.V285I,WDR20:NM_001353677:exon4:c.G601A:p.V201I,WDR20:NM_001353667:exon5:c.G853A:p.V285I,WDR20:NM_001353673:exon5:c.G853A:p.V285I	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0287356995958	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004398	68	154602	rs553080667	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	0	5.616e-05	0.0003	4.496e-06	0.0002	0.0035	9.851e-05	9.843e-05	7.711e-05	0.0001	0.0029	6.003e-05	4.877e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0	0.0029	0.799	0.04521	T	1.0	0.01155	T	0.452	0.36118	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.62	0.15745	N	0.28	0.59037	T	-0.03	0.07590	N	0.601	0.65587	-0.8150	0.54244	T	0.237	0.60379	T	10	0.010781616	0.00238	T	0.028736	0.51367	D	0.127	0.34888	0.296	0.26041	0.283272178027	0.27931	0.2753483913352321	0.27447	0.392990782166	0.40477	0.662496209145	0.61766	T	0.119777	0.44155	T	-0.388891	0.02735	T	-0.332865	0.41149	T	0.261149317056026	0.23365	T	0.89551	0.63622	D	0.08042117	0.18425	0.111242004	0.26832	0.08042117	0.18425	0.111242004	0.26831	-4.363	0.30362	T	.	.	0.083	0.13597	B	.;.;.;.;.;.	.;.;.;.;.;.	3.822521	0.55204	23.6	0.91176584905709135	0.20431	0.98952	0.89087	D	AEFGBHCIJ	0.872408	0.79425	D	0.188292786218623	0.50637	3.251804	0.395704345601874	0.61298	4.328163	0.999999999999042	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	9.536000	0.97139	11.834000	0.97615	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.902	0.96993	803	0.44167	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2942.33	33	chr14	102209542	.	G	A	2942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=885;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.049;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	18	0	1	0
chr14	102250899	102250899	C	T	exonic	MOK	.	nonsynonymous SNV	MOK:NM_001353829:exon5:c.G188A:p.R63Q,MOK:NM_001353830:exon5:c.G185A:p.R62Q,MOK:NM_001272011:exon6:c.G413A:p.R138Q,MOK:NM_001353827:exon6:c.G410A:p.R137Q,MOK:NM_001330234:exon7:c.G500A:p.R167Q,MOK:NM_014226:exon7:c.G503A:p.R168Q,MOK:NM_001353828:exon8:c.G311A:p.R104Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	.	0.0002	0.000599042	0.0025	0	0	0.0005	0.0237	0.0019	0.0133	0.0001	0.0019728	305	154602	rs181921234	0.0010	0.0010	0.0010	0.0010	0.0009	0.0009	0.0009	0.0007	0.0006	5.974e-05	0	0.0003	0.0009	0.0192	0	0.0002	0.0011	0.0003	0.0017	0.0017	0.0006	0.0028	0.0010	0.0015	0.0015	0.0004	0.0003	0	0	0	0.0003	0.0006	0.0213	0	0.0004	0.0005	0.0010	0.0	0.91255	D	0.035	0.52727	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.994586	0.81001	D	2	0.54354	M	0.71	0.51228	T	-3.92	0.73151	D	0.822	0.81758	-0.1651	0.78547	T	0.386	0.74165	T	10	0.018689334	0.00409	T	.	.	.	0.460	0.75755	.	.	0.802652082553	0.80081	0.8827370939035548	0.88241	0.638963966214	0.57584	0.615034520626	0.55027	T	0.04026	0.25466	T	-0.0265267	0.47920	T	0.138679	0.79459	D	0.117540342724011	0.14187	T	0.934307	0.85218	D	0.9062017	0.91943	0.8614962	0.92281	0.9062017	0.91945	0.8614962	0.92281	-11.069	0.80501	D	.	.	0.912	0.84445	P	.;.;.	.;.;.	4.913314	0.80858	27.4	0.99950702803408453	0.99944	0.94410	0.61076	D	AEFBI	0.823479	0.74358	D	0.868283291044592	0.90124	10.26292	0.811784021842417	0.90600	10.48193	0.999999999029787	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.69	5.69	0.88346	5.559000	0.67030	3.218000	0.36838	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.910000	0.44547	0.0:1.0:0.0:0.0	19.401	0.94620	793	0.45818	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1868.33	33	chr14	102250899	.	C	T	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=775;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.446;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	18	0	1	0
chr14	102326382	102326382	T	C	exonic	ZNF839	.	nonsynonymous SNV	ZNF839:NM_001267827:exon2:c.T338C:p.I113T,ZNF839:NM_001385065:exon2:c.T686C:p.I229T,ZNF839:NM_001385070:exon2:c.T338C:p.I113T,ZNF839:NM_001385071:exon2:c.T338C:p.I113T,ZNF839:NM_001385072:exon2:c.T686C:p.I229T,ZNF839:NM_001385073:exon2:c.T686C:p.I229T,ZNF839:NM_001385074:exon2:c.T338C:p.I113T,ZNF839:NM_001385076:exon2:c.T338C:p.I113T,ZNF839:NM_018335:exon2:c.T686C:p.I229T,ZNF839:NM_001267828:exon3:c.T338C:p.I113T,ZNF839:NM_001385069:exon3:c.T338C:p.I113T,ZNF839:NM_001385075:exon3:c.T338C:p.I113T	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0181485186241	.	.	9.465e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs772005857	1.37e-06	1.368e-06	2.726e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.009	0.67890	D	0.143	0.28271	B	0.09	0.29851	B	0.076710	0.21147	U	0.192246	1	0.08975	N	2.43	0.70455	M	0.84	0.47477	T	-2.65	0.56787	D	0.056	0.02861	-0.9989	0.30227	T	0.094	0.35551	T	10	0.07065627	0.10310	T	0.018149	0.40116	T	0.022	0.04323	0.227	0.15257	0.295974979623	0.29207	0.07727245548258345	0.07663	0.324340639532	0.34596	0.367437034845	0.20463	T	0.001506	0.00951	T	-0.245652	0.14635	T	-0.590639	0.13610	T	0.226521015167236	0.21785	T	0.477152	0.14354	T	0.17207143	0.37877	0.11258699	0.27166	0.17207143	0.37876	0.11258699	0.27165	-4.279	0.27881	T	.	.	0.241	0.47503	B	.;.;.	.;.;.	1.775665	0.22581	15.68	0.85764270949409194	0.16098	0.07348	0.13369	N	AEBI	0.026048	0.01890	N	-0.754161888844775	0.14520	0.7239864	-0.79561733233016	0.14602	0.7638305	0.994329241207368	0.33586	0.634777	0.41761	0	0.643519	0.57511	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.08	2.75	0.31439	0.591000	0.23670	0.964000	0.23011	0.661000	0.55757	0.000000	0.06391	0.001000	0.17328	0.035000	0.13729	0.0:0.1795:0.0:0.8205	7.097	0.24492	702	0.57624	Domain of unknown function DUF4764;Domain of unknown function DUF4764;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	158	chr14	102326382	.	T	C	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.147;SOR=0.712	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1410	18	0	1	0
chr14	102452549	102452549	G	A	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon16:c.G3562A:p.G1188S,TECPR2:NM_014844:exon16:c.G3562A:p.G1188S	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.114035479927	.	.	2.228e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs777493199	6.17e-06	6.156e-06	9.546e-06	2.757e-06	2.524e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	2.524e-05	0	0	7.2e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.14	0.88066	T	-4.25	0.76094	D	0.87	0.86725	-0.8724	0.50349	T	0.176	0.52115	T	10	0.82563263	0.81744	D	0.114035	0.79275	D	0.523	0.79765	0.694	0.83126	0.749488993194	0.74722	0.6958486500516565	0.69525	0.995581782991	0.74216	0.680115759373	0.64284	T	0.370013	0.73463	T	0.399257	0.89868	D	0.335729	0.89741	D	0.956445872783661	0.64758	D	0.929607	0.73996	D	0.4574475	0.64512	0.4991996	0.71045	0.4574475	0.64513	0.4991996	0.71045	-9.856	0.73045	D	.	.	0.427	0.63694	A	.;.	.;.	4.644052	0.73957	26.1	0.99827202372622992	0.90939	0.99641	0.98258	D	AEFDGBI	0.906212	0.85871	D	0.69352345555713	0.79208	7.029414	0.700592928875811	0.82425	7.763339	0.999999999999721	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.519000	0.97069	11.688000	0.94314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	0.0:0.0:1.0:0.0	20.644	0.99572	216	0.91608	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1069.33	45	chr14	102452549	.	G	A	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.79;DP=774;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.092;SOR=0.925	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr14	103089748	103089748	G	A	exonic	LBHD2	.	nonsynonymous SNV	LBHD2:NM_001330236:exon4:c.G278A:p.G93D	.	974	536	10	2	0	14	0.0128913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0073767	192	26028	rs118054948	0.0110	0.0052	0.0105	0.0114	0.0139	0.0106	0.0105	0.0121	0.0119	0.0014	0.0043	0.0241	8.738e-05	0.0133	0.0139	0.0125	0.0087	0.0079	0.0084	0.0085	0.0084	0.0085	0.0118	0.0081	0.0079	0.0112	0.0109	0.0021	0	0.0042	0.0297	0.0002	0.0159	0.0068	0.0118	0.0061	0.0087	.	.	.	0.192	0.28300	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.14622	.	.	.	.	.	.	.	0.00420171	0.00084	T	.	.	.	.	.	.	.	.	.	0.011975718471361193	0.01157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.049992256	0.08962	0.08360937	0.19172	0.049992256	0.08961	0.08360937	0.19172	-4.475	0.30560	T	.	.	0.080	0.07889	B	.	.	1.395661	0.18093	13.54	0.79181475059124573	0.12626	0.03156	0.08122	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999888071968972	0.44867	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.125054	0.25188	3.03	-2.92	0.05277	0.223000	0.17501	0.942000	0.22859	0.618000	0.50648	0.000000	0.06391	0.009000	0.19889	0.005000	0.06747	0.3767:0.1867:0.2632:0.1734	0.566	0.00642	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1697.33	132	chr14	103089748	.	G	A	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=782;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.555;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1028	18	0	1	0
chr14	103127397	103127397	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon3:c.G628A:p.A210T,TNFAIP2:NM_001371221:exon3:c.G628A:p.A210T,TNFAIP2:NM_006291:exon3:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0144292925837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.896	0.02448	T	0.189	0.28575	T	0.017	0.17573	B	0.002	0.06944	B	0.995122	0.07928	N	1.002150	0.999998	0.08975	N	0.55	0.14455	N	3.25	0.06762	T	-0.28	0.11547	N	0.024	0.00445	-0.8878	0.49122	T	0.008	0.02842	T	10	0.045698076	0.03670	T	0.014429	0.34542	T	0.029	0.06676	0.529	0.63560	0.262662153117	0.25859	0.1312081441457143	0.13045	0.284083675764	0.30837	0.734533667564	0.72169	T	0.052113	0.29070	T	-0.426009	0.01567	T	-0.849709	0.00963	T	0.0674309937454317	0.08286	T	0.454055	0.12934	T	0.061948456	0.12884	0.046804074	0.06605	0.061948456	0.12884	0.046804074	0.06604	-5.222	0.39165	T	.	.	0.075	0.05668	B	.;.	.;.	0.473340	0.08429	5.186	0.91746114212185936	0.21045	0.06794	0.12817	N	AEFDBCI	0.067557	0.13287	N	-1.93389052314483	0.00292	0.01254013	-1.92380449782973	0.00439	0.01942424	0.999999423891318	0.74766	0.72623	0.87236	0	0.709663	0.81188	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.61	-2.08	0.06852	-1.823000	0.01804	-0.114000	0.11796	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1997:0.287:0.3778:0.1355	2.001	0.03256	636	0.64483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	615.33	39	chr14	103127397	.	G	A	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.371;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.544;SOR=0.688	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1165	18	0	1	0
chr14	103468064	103468064	A	G	exonic	MARK3	.	nonsynonymous SNV	MARK3:NM_001128921:exon11:c.A905G:p.N302S,MARK3:NM_001128918:exon12:c.A1142G:p.N381S,MARK3:NM_001128919:exon12:c.A1142G:p.N381S,MARK3:NM_002376:exon12:c.A1142G:p.N381S	.	.	.	.	.	.	.	.	.	.	.	2357307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0089971037841	.	.	4.141e-05	0	8.64e-05	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs747903624	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	0	2.238e-05	0	2.519e-05	0	0.0005	1.079e-05	1.656e-05	1.16e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.02698	T	1.0	0.01155	T	0.001	0.13644	B	0.006	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	0.99	0.25021	L	1.61	0.28391	T	-1.48	0.36189	N	0.329	0.38129	-1.0930	0.05051	T	0.046	0.19919	T	10	0.09306377	0.16438	T	0.008997	0.23702	T	0.052	0.14661	0.351	0.34922	0.430239905395	0.42638	0.38286696852957824	0.38201	0.745215368808	0.63480	0.740982830524	0.73118	T	0.263611	0.63531	T	-0.3218	0.06752	T	-0.592363	0.13461	T	0.113313920795918	0.13764	T	0.964804	0.86967	D	0.1856838	0.39942	0.19454992	0.43084	0.1856838	0.39941	0.19454992	0.43084	-2.398	0.05120	T	.	.	0.084	0.09868	B	.;.;.;.;.;.	.;.;.;.;.;.	3.071779	0.41293	21.3	0.19034541872554214	0.00625	0.93789	0.59195	D	AEFBI	0.532079	0.55209	D	-0.530848096809043	0.21088	1.116584	-0.334232975225034	0.27001	1.495269	0.0627642754299276	0.15273	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.61	0.56724	6.179000	0.71907	3.988000	0.40963	-0.591000	0.04649	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.923:0.0:0.077:0.0	10.976	0.46679	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1029.33	33	chr14	103468064	.	A	G	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.766;DP=716;ExcessHet=0;FS=2.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.866;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	18	0	1	0
chr14	103587321	103587321	G	A	exonic	COA8	.	nonsynonymous SNV	COA8:NM_001302652:exon4:c.G433A:p.E145K,COA8:NM_001370595:exon4:c.G433A:p.E145K,COA8:NM_001302653:exon5:c.G521A:p.G174E	.	434	1084	3	1	0	5	0.00230097	.	.	.	1673774	not_provided|Mitochondrial_complex_4_deficiency,_nuclear_type_17	MedGen:C3661900|MONDO:MONDO:0033652,MedGen:C5436718,OMIM:619061	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0241504579155	.	0.000199681	9.132e-05	0	0	0	0	7.568e-05	0	0.0004	7.76e-05	12	154602	rs562472810	7.05e-05	7.046e-05	4.767e-05	9.356e-05	0.0009	5.916e-05	5.525e-05	0.0004	0.0004	0	2.241e-05	0	0	0	0.0009	4.228e-05	8.286e-05	0.0005	3.944e-05	3.938e-05	3.859e-05	4.033e-05	0.0004	1.716e-05	1.13e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	0.233	0.61437	T	0.422	0.92824	T	0.801	0.45051	P	0.339	0.42346	B	0.025408	0.26093	N	0.434151	0.981394	0.25042	N	1.87	0.49600	L	0.87	0.46412	T	-2.15	0.48687	N	0.37	0.45992	-1.0050	0.28457	T	0.094	0.35551	T	10	0.11069894	0.20700	T	0.02415	0.47134	T	0.159	0.41286	.	.	0.49908893446	0.49543	0.22311857579520908	0.22226	0.164175052021	0.22694	.	.	.	0.011599	0.10324	T	-0.284799	0.10166	T	-0.336352	0.40758	T	0.098538315313443	0.12196	T	0.907909	0.67446	D	0.09443751	0.22203	0.1596996	0.37232	0.09443751	0.22203	0.1596996	0.37232	-3.853	0.21599	T	.	.	0.202	0.67560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.271212	0.29029	17.99	0.9980145951358621	0.88639	0.82634	0.41835	D	AEFI	0.471559	0.51705	N	-0.169786759042494	0.34397	1.962769	-0.0715123900155883	0.36572	2.130154	0.954451321020977	0.28132	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.91	5.02	0.66742	3.454000	0.52750	6.366000	0.55516	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.0845:0.0:0.9155:0.0	11.065	0.47190	851	0.35303	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	909.33	33	chr14	103587321	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.018;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.827;SOR=0.691	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	18	0	1	0
chr14	103698901	103698901	C	T	exonic	XRCC3	.	nonsynonymous SNV	XRCC3:NM_001100118:exon9:c.G938A:p.R313Q,XRCC3:NM_001100119:exon10:c.G938A:p.R313Q,XRCC3:NM_001371229:exon10:c.G938A:p.R313Q,XRCC3:NM_001371231:exon10:c.G938A:p.R313Q,XRCC3:NM_001371232:exon10:c.G938A:p.R313Q,XRCC3:NM_005432:exon10:c.G938A:p.R313Q	.	369	1152	1	0	0	1	0.000433839	.	.	.	3349658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.523	0.231318105299	.	0.000199681	3.374e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs546709768	1.862e-05	1.915e-05	1.781e-05	1.944e-05	0.0001	1.275e-05	1.093e-05	4.096e-05	2.382e-05	0.0001	0	0	0	0	0	1.626e-05	3.339e-05	3.55e-05	3.284e-05	3.281e-05	2.57e-05	4.031e-05	0.0002	1.26e-05	7.98e-06	1.914e-05	1.031e-05	7.22e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	0.31	0.58613	T	-2.97	0.66549	D	0.054	0.21710	0.323	0.87919	D	0.512	0.81685	D	10	0.30141363	0.47684	T	0.231318	0.88270	D	0.523	0.79765	.	.	0.799025041552	0.79715	0.9498023209315896	0.94963	0.78339863091	0.65394	0.393985450268	0.24230	T	0.443426	0.78722	T	-0.0922472	0.37706	T	-0.18564	0.55997	T	0.991003632545471	0.81251	D	0.846915	0.52723	T	0.9035657	0.91704	0.7633996	0.86023	0.9035657	0.91705	0.7633996	0.86023	-8.648	0.65405	D	.	.	0.402	0.59711	A	.;.;.;.;.	.;.;.;.;.	4.476208	0.69796	25.4	0.99944981491112472	0.99886	0.79432	0.39359	D	AEFDGBHCI	0.207899	0.33403	N	0.499742876073421	0.67077	5.033578	0.323354461770233	0.56914	3.855685	0.99999999999997	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.43	4.43	0.52967	0.839000	0.27239	5.765000	0.49707	0.599000	0.40250	0.504000	0.26986	0.999000	0.35428	0.787000	0.37188	0.0:1.0:0.0:0.0	16.161	0.81518	862	0.33134	DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr14	103698901	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.714;DP=752;ExcessHet=0;FS=11.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=0.028;SOR=0.345	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1058	18	0	1	0
chr14	103975449	103975449	G	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.G907C:p.V303L	.	434	1084	4	0	0	4	0.00184162	.	.	.	3214000	TDRD9-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0008	0.00119808	0.0016	9.752e-05	0.0003	0	0.0120	0.0014	0.0022	0.0006	0.0014489	224	154602	rs147103471	0.0017	0.0017	0.0018	0.0017	0.0015	0.0017	0.0017	0.0015	0.0014	0.0004	0.0004	3.827e-05	0	0.0121	0.0014	0.0015	0.0017	0.0007	0.0021	0.0021	0.0015	0.0028	0.0014	0.0019	0.0018	0.0012	0.0011	0.0003	0	0.0007	0	0	0.0180	0	0.0014	0.0019	0.0012	0.024	0.47745	D	0.155	0.31936	T	0.073	0.24078	B	0.028	0.21332	B	0.066165	0.21829	N	0.376575	0.967095	0.38572	D	1.935	0.51832	L	3.89	0.03544	T	-1.53	0.37178	N	0.216	0.24135	-0.8317	0.53191	T	0.014	0.05753	T	10	0.0051170588	0.00111	T	.	.	.	0.023	0.04649	.	.	0.170165803431	0.16609	0.42724342476483135	0.42641	0.208088668149	0.23278	0.440129667521	0.30595	T	0.040974	0.25705	T	-0.544513	0.00315	T	-0.579559	0.14584	T	0.0193841248249143	0.00643	T	0.808619	0.45852	T	0.08166041	0.18774	0.09528713	0.22592	0.07936636	0.18127	0.096928425	0.23049	-5.887	0.45324	T	.	.	0.156	0.34602	B	.;.	.;.	1.875979	0.23830	16.17	0.98940409021674436	0.48921	0.58818	0.30745	D	AEFDI	0.318443	0.42214	N	-0.440942208071658	0.24048	1.295763	-0.413525267455948	0.24600	1.347979	0.0966612576169368	0.16259	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.33	0.37245	0.809000	0.26827	4.417000	0.43302	-0.106000	0.15538	0.342000	0.25692	1.000000	0.68203	0.341000	0.25455	0.2171:0.0:0.7829:0.0	10.292	0.42780	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2411.83	33	chr14	103975449	.	G	C	2411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=799;ExcessHet=0.119;FS=1.072;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.841;SOR=0.601	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1273,0,1423	17	0	2	0
chr14	104033974	104033974	A	G	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon31:c.A3524G:p.E1175G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0183517724952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.029	0.54541	D	0.381	0.34388	B	0.196	0.36635	B	.	.	.	.	0.999995	0.81001	D	2.555	0.74557	M	3.68	0.04151	T	-4.36	0.76980	D	0.296	0.33469	-1.1406	0.01336	T	0.027	0.11441	T	9	0.28989682	0.46571	T	0.018352	0.40384	T	0.100	0.28662	0.466	0.53729	0.253205268125	0.24938	0.7819737737258743	0.78148	0.327345842699	0.34869	0.372429132462	0.21179	T	0.454583	0.79407	T	-0.17705	0.24176	T	-0.492096	0.23171	T	0.951647937297821	0.63608	D	0.806819	0.45619	T	0.24034259	0.46936	0.3954969	0.64215	0.24034259	0.46936	0.3954969	0.64215	-3.149	0.11867	T	.	.	0.212	0.44069	B	.	.	3.488252	0.48748	22.7	0.99783716582882298	0.87043	0.95080	0.63365	D	AEFBI	0.521807	0.54608	D	0.193797339206306	0.50900	3.275847	0.259712046554897	0.53205	3.49051	0.99961346172025	0.40981	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.09	5.09	0.68647	2.952000	0.48790	10.975000	0.84560	0.731000	0.85647	0.997000	0.40164	1.000000	0.68203	0.917000	0.45243	1.0:0.0:0.0:0.0	14.827	0.69752	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1128.33	70	chr14	104033974	.	A	G	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=802;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.444;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	1	0
chr14	104106865	104106865	G	A	exonic	ASPG	.	nonsynonymous SNV	ASPG:NM_001080464:exon11:c.G1240A:p.V414M	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.121833551314	.	0.00179712	0.0013	0	0	0	0	8.61e-05	0	0.0058	0.000511	79	154602	rs563729853	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	3.015e-05	0	0	2.576e-05	0	0.0002	9.056e-07	0.0003	0.0036	0.0001	0.0001	6.425e-05	0.0002	0.0033	7.573e-05	6.278e-05	0.0021	0.0017	4.812e-05	0	0	0	0	0	0	0	0	0.0033	0.067	0.40832	T	0.088	0.40586	T	0.115	0.37531	B	0.051	0.25434	B	0.029277	0.25478	N	0.381492	0.999631	0.20820	N	1.845	0.48678	L	-0.23	0.66652	T	-0.23	0.10656	N	0.143	0.15609	-0.9098	0.46879	T	0.203	0.55975	T	10	0.0031476915	0.00053	T	0.121834	0.80268	D	0.029	0.06676	0.399	0.42753	0.342400092842	0.33857	0.19346623354743528	0.19264	0.0994019885817	0.11232	0.422397345304	0.28166	T	0.034357	0.36187	T	-0.490254	0.00648	T	-0.47783	0.24678	T	0.0413253880924361	0.03930	T	0.757724	0.38847	T	0.036079407	0.04369	0.07502411	0.16473	0.036079407	0.04368	0.07502411	0.16473	-5.925	0.45647	T	.	.	0.077	0.07650	B	.;.	.;.	1.427273	0.18448	13.74	0.97990849134479452	0.37401	0.15280	0.18834	N	AEFDBI	0.137324	0.25827	N	-0.77320202845891	0.14011	0.6945534	-0.824338508429019	0.13905	0.7238904	0.852781797504534	0.25076	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.52	2.43	0.28797	-0.259000	0.08742	0.229000	0.16167	-0.174000	0.10959	0.000000	0.06391	0.705000	0.26257	0.018000	0.11154	0.1491:0.5216:0.3293:0.0	8.326	0.31319	510	0.75209	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	34	chr14	104106865	.	G	A	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.673;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.801;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	18	0	1	0
chr14	104175195	104175195	C	T	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.C2407T:p.R803W	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.589681652719	8e-05	0.00139776	0.0009	0	0	0.0003	0	0.0001	0	0.0057	0.0006727	104	154602	rs201126105	0.0004	0.0004	0.0002	0.0005	0.0046	0.0004	0.0004	0.0043	0.0041	0	6.755e-05	0	0.0003	0	0.0012	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	9.626e-05	0	6.533e-05	0	0.0014	0	0	0.0002	0.0005	0.0035	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.949	0.68658	D	.	.	.	.	0.996824	0.43441	D	2.75	0.80375	M	-1.5	0.81318	D	-6.85	0.93097	D	0.502	0.53445	0.214	0.86141	D	0.584	0.85065	D	9	0.013980001	0.00295	T	0.589682	0.96351	D	0.517	0.79400	.	.	0.808420548568	0.80662	0.6010305884145444	0.60034	0.449415693585	0.44730	0.86792999506	0.92272	D	0.228032	0.59348	T	-0.22857	0.16839	T	-0.100285	0.63377	T	0.273814531601691	0.23910	T	0.940606	0.77652	D	0.5614481	0.70590	0.45705718	0.68446	0.5614481	0.70591	0.45705718	0.68446	-8.148	0.62074	D	.	.	0.166	0.36574	B	.;.	.;.	4.755970	0.76843	26.6	0.99904198634107344	0.97502	0.60494	0.31211	D	AEFBCI	0.729211	0.67699	D	0.415307063564042	0.62263	4.439383	0.323401601434864	0.56917	3.855979	0.973848665881022	0.29491	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.89	3.89	0.44098	2.346000	0.43683	1.062000	0.23729	0.596000	0.33519	1.000000	0.71638	0.914000	0.28189	0.503000	0.29084	0.3192:0.6808:0.0:0.0	10.996	0.46790	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2734.33	35	chr14	104175195	.	C	T	2734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=940;ExcessHet=0;FS=3.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.494;SOR=0.487	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr14	104175351	104175351	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2563A:p.E855K	.	428	1090	4	0	0	4	0.0018315	.	.	.	2356767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.368	0.542490879858	.	0.000199681	0.0001	0	0.0002	0	0	7.157e-05	0	0.0004	9.7e-05	15	154602	rs369714040	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	6.729e-05	0	0	0	0.0005	0.0002	0.0002	0.0005	7.878e-05	8.53e-05	6.423e-05	9.399e-05	0.0008	4.493e-05	3.509e-05	0.0003	0.0002	7.214e-05	0	0	0	0	0	0	5.88e-05	0.0005	0.0008	0.02	0.49613	D	0.052	0.48594	T	0.976	0.58310	D	0.413	0.44885	B	.	.	.	.	1	0.81001	D	2.6	0.76081	M	-1.55	0.81727	D	-3.18	0.64478	D	0.214	0.23884	0.226	0.86351	D	0.527	0.82389	D	9	0.20238861	0.36356	T	0.542491	0.95746	D	0.368	0.68757	0.241	0.17371	0.923764619193	0.92299	0.7803055092978858	0.77981	0.0908038822712	0.10252	0.722545921803	0.70418	T	0.312667	0.68447	T	-0.200845	0.20683	T	-0.21012	0.53685	T	0.354292511940002	0.27186	T	0.510949	0.16331	T	0.1432441	0.32931	0.13762194	0.32889	0.1432441	0.32930	0.13762194	0.32888	-10.071	0.74336	D	.	.	0.084	0.13080	B	.;.	.;.	2.422489	0.31153	18.65	0.99455657970916811	0.65530	0.98343	0.81823	D	AEFBI	0.794206	0.72198	D	0.151439741899181	0.48880	3.094881	0.020162557905164	0.40651	2.429554	0.999999999883043	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.9	3.9	0.44240	6.304000	0.72770	5.630000	0.49113	-0.721000	0.03806	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.0:0.0:1.0:0.0	16.256	0.82341	557	0.71576	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.005155	0.001366	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1867.33	35	chr14	104175351	.	G	A	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=1140;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.165;SOR=1.038	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr14	104175415	104175415	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2627A:p.R876Q	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0018	0.00199681	0.0036	0.0004	0.0016	0	0.0116	0.0041	0.0054	0.0040	0.0024644	381	154602	rs138557973	0.0025	0.0025	0.0024	0.0025	0.0039	0.0024	0.0024	0.0035	0.0034	0.0003	0.0012	0.0071	0.0002	0.0101	0.0037	0.0022	0.0022	0.0039	0.0026	0.0026	0.0021	0.0031	0.0027	0.0024	0.0023	0.0021	0.0020	0.0004	0	0.0024	0.0075	0.0002	0.0118	0	0.0024	0.0038	0.0027	0.076	0.34269	T	0.317	0.19304	T	0.27	0.31762	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.2	0.78537	T	-1.23	0.31170	N	0.162	0.17691	-0.8617	0.51140	T	0.190	0.54108	T	9	0.007402867	0.00168	T	.	.	.	0.086	0.25016	.	.	0.900429547486	0.89943	0.1674360589524765	0.16663	0.160506886799	0.18112	0.576956987381	0.49656	T	0.010119	0.09163	T	-0.395158	0.02490	T	-0.342183	0.40098	T	0.0111673446678968	0.00163	T	0.818018	0.47523	T	0.10000399	0.23607	0.070173934	0.14876	0.10000399	0.23606	0.070173934	0.14876	-4.423	0.29867	T	.	.	0.089	0.12181	B	.;.	.;.	2.399434	0.30823	18.56	0.9950725035089415	0.68381	0.10959	0.16311	N	AEFBI	0.052566	0.09393	N	-0.585910117310267	0.19372	1.013331	-0.608509071694544	0.19275	1.033391	0.831840926990104	0.24707	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.9	1.99	0.25423	1.014000	0.29553	3.128000	0.36429	0.672000	0.70159	0.529000	0.27181	1.000000	0.68203	0.006000	0.07323	0.3946:0.0:0.6054:0.0	5.902	0.18217	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004044	0.005102	0.002740	0.011765	0.000000	0.008772	0.000000	0.007634	0.02632	2080.33	35	chr14	104175415	.	G	A	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=1231;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.511;SOR=0.639	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr14	104586509	104586509	G	A	exonic	C14orf180	.	nonsynonymous SNV	C14orf180:NM_001008404:exon2:c.G79A:p.A27T,C14orf180:NM_001286399:exon2:c.G79A:p.A27T,C14orf180:NM_001286400:exon2:c.G79A:p.A27T	.	399	1118	4	1	0	6	0.00267618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00314531702461	0.0014	0.000998403	0.0025	0.0004	0	0	0	0.0018	0	0.0043	0.0010026	155	154602	rs201836429	0.0018	0.0018	0.0018	0.0019	0.0044	0.0018	0.0018	0.0040	0.0039	0.0005	0.0003	0.0003	5.593e-05	0.0006	0.0009	0.0019	0.0017	0.0044	0.0013	0.0013	0.0013	0.0012	0.0029	0.0011	0.0011	0.0019	0.0018	0.0003	0	0.0003	0.0003	0	0.0006	0	0.0022	0.0028	0.0029	0.984	0.07670	T	0.561	0.18018	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.34	0.21003	N	0.054	0.04307	-1.0228	0.22802	T	0.026	0.11353	T	8	0.004038155	0.00078	T	0.003145	0.06845	T	0.002	0.00045	.	.	0.0138822411134	0.00435	0.046523677241875526	0.04596	0.0145856783889	0.01380	.	.	.	.	.	.	-0.690082	0.00042	T	-0.764552	0.02952	T	0.0046864148004773	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.20663	B	.;.;.	.;.;.	-1.112875	0.00625	0.017	0.88072491133493624	0.17695	0.00829	0.03338	N	AEFDBIJ	0.033525	0.03996	N	-1.26190155005587	0.04145	0.1865084	-1.34331990447221	0.03885	0.1821512	0.122093404118098	0.16906	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.33	-1.53	0.08156	-1.596000	0.02194	-5.231000	0.01797	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6415:0.0:0.3585:0.0	5.905	0.18241	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002626	0.000000	0.002849	0.003030	0.000000	0.000000	0.000000	0.003817	0.02632	1277.33	36	chr14	104586509	.	G	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=716;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.06;SOR=0.514	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	18	0	1	0
chr14	104713279	104713279	C	T	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon19:c.C2848T:p.R950W,INF2:NM_022489:exon19:c.C2848T:p.R950W	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	1	1518	3	0	0	3	0.000987167	.	.	.	337264	Inborn_genetic_diseases|Kidney_disorder|Charcot-Marie-Tooth_disease_dominant_intermediate_E|Focal_segmental_glomerulosclerosis_5|INF2-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0643626756614	0.0004	0.000399361	0.0010	0	0	0	0	0.0011	0	0.0014	0.0002458	38	154602	rs199873407	0.0007	0.0007	0.0006	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	3.164e-05	5.593e-05	3.971e-05	0	0.0048	0.0008	0.0006	0.0004	0.0011	0.0009	0.0009	0.0008	0.0011	0.0009	0.0008	0.0008	0.0008	0.0007	0.0001	0	0.0001	0	0	0.0062	0	0.0009	0.0009	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.915	0.65091	D	0.000585	0.43095	D	0.191878	0.573135	0.32311	D	1.7	0.43825	L	0.86	0.46777	T	-5.5	0.85844	D	0.192	0.22357	-0.9387	0.42822	T	0.130	0.43989	T	10	0.010538548	0.00234	T	0.064363	0.69254	D	0.128	0.35103	.	.	0.117191471859	0.11215	0.47287378877210656	0.47206	0.256219294154	0.28199	0.295075565577	0.09668	T	0.461264	0.79810	T	-0.460334	0.00979	T	-0.484455	0.23974	T	0.0847293412727623	0.10581	T	0.967703	0.89999	D	0.2634477	0.49409	0.28190306	0.54174	0.29047418	0.52036	0.26196796	0.51982	-11.009	0.79707	D	0.2466291479823254	0.33400	0.12	0.28116	B	.;.;.	.;.;.	3.047175	0.40872	21.3	0.99775713785700382	0.86346	0.46207	0.27709	N	AEFDBI	0.356105	0.44760	N	-0.00993049444828992	0.41406	2.475995	-0.0897886915173207	0.35810	2.076313	0.999883149685934	0.44867	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.6	2.53	0.29594	0.977000	0.29072	1.085000	0.23927	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.3991:0.4857:0.0:0.1151	5.092	0.14046	957	0.09725	.;Formin, FH2 domain;Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001055	0.005435	0.000000	0.000000	0.000000	0.000000	0.003165	0.000000	0.02632	841.33	34	chr14	104713279	.	C	T	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=690;ExcessHet=0;FS=7.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.49;SOR=1.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chr14	104724449	104724449	T	C	exonic	ADSS1	.	nonsynonymous SNV	ADSS1:NM_152328:exon1:c.T179C:p.I60T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.187644808822	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208710270	2.723e-06	8.893e-06	1.724e-06	3.834e-06	0.0001	7.3e-07	2e-07	4.001e-05	2.08e-05	0	0	0	0	0	0	0	0	0.0001	6.584e-06	6.57e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.109	0.29288	T	0.06	0.45744	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	0.888637	0.35903	D	1.61	0.41143	L	0.78	0.49358	T	-1.98	0.45769	N	0.578	0.59986	-0.9795	0.35117	T	0.105	0.38513	T	9	0.5737631	0.65464	D	0.187645	0.85951	D	0.325	0.64725	.	.	0.611566284271	0.60843	.	.	.	.	.	.	.	0.174979	0.52439	T	-0.048467	0.44679	T	-0.307396	0.43938	T	0.543724379329873	0.34243	D	0.939506	0.77228	D	0.24589212	0.47552	0.26152584	0.51931	0.24589212	0.47552	0.26152584	0.51931	-7.023	0.54202	T	0.11513585920312447	0.10267	0.657	0.71225	P	.	.	4.579791	0.72335	25.8	0.98463007828204507	0.41768	0.96814	0.71082	D	AEFDGBHCI	0.847675	0.76452	D	-0.0643036560213437	0.38966	2.290433	0.0743666306426272	0.43265	2.63179	0.999999999999705	0.74766	0.766844	0.99359	0	0.166054	0.03914	2	0.851219	0.99655	0	0.56751	0.32155	0	.	.	3.83	3.83	0.43287	4.602000	0.60805	7.221000	0.57847	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.907	0.52001	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	406.34	24	chr14	104724449	.	T	C	406.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=546;ExcessHet=0;FS=0;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.634;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:87:0,87,1305	18	0	1	0
chr14	104932268	104932268	A	G	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon10:c.A1255G:p.I419V,PLD4:NM_138790:exon10:c.A1234G:p.I412V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0151864559011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.61	0.07691	T	0.094	0.26429	B	0.051	0.38645	B	0.000002	0.62929	D	0.000000	0.832562	0.81001	D	1.7	0.43825	L	1.92	0.23082	T	-0.12	0.08809	N	0.268	0.30347	-1.1019	0.03869	T	0.049	0.20789	T	10	0.15568489	0.29338	T	0.015186	0.35777	T	0.056	0.15993	0.417	0.45709	0.0482279557977	0.04254	0.39519753901698995	0.39434	0.179949505686	0.20241	0.537795066833	0.44134	T	0.014806	0.12535	T	-0.196032	0.21379	T	-0.519363	0.20359	T	0.625209152698517	0.37420	D	0.778122	0.41194	T	0.049811892	0.08902	0.043252256	0.05338	0.049811892	0.08902	0.043252256	0.05338	-2.384	0.05035	T	.	.	0.137	0.31857	B	.;.;.	.;.;.	2.175871	0.27729	17.56	0.94301088453871384	0.24612	0.80168	0.39878	D	AEFDBCI	0.746676	0.68897	D	-0.335040443460642	0.27825	1.529796	-0.209727176250578	0.31186	1.762558	0.999999676262728	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.31	4.31	0.50718	3.528000	0.53279	4.273000	0.42854	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.9094:0.0:0.0906:0.0	8.280	0.31054	982	0.03397	.;PLD-like domain;PLD-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr14	104932268	.	A	G	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.123;DP=741;ExcessHet=0;FS=9.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.57;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr14	104941596	104941596	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G13555A:p.E4519K,AHNAK2:NM_138420:exon7:c.G13855A:p.E4619K	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00391017644183	.	0.000199681	0.0003	0.0001	0.0003	0	0	0.0001	0.0022	0.0012	0.0002781	43	154602	rs539865809	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	8.961e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0007	0.0012	0.0001	0.0001	0.0002	9.397e-05	0.0002	8.658e-05	7.251e-05	5.28e-05	3.046e-05	0.0001	0	0.0002	0.0009	0.0002	0	0	5.879e-05	0.0014	0.0002	0.904	0.02401	T	0.866	0.03352	T	0.08	0.24543	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	5.99	0.00605	T	0.18	0.05035	N	0.052	0.02366	-0.9845	0.33951	T	0.001	0.00222	T	9	0.006616354	0.00150	T	0.00391	0.09211	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00860290293957328	0.00824	.	.	0.244817078114	0.03241	T	0.017731	0.14416	T	-0.677014	0.00050	T	-0.790812	0.02142	T	0.0013861357536164	0.00014	T	0.40286	0.10299	T	0.02737461	0.01921	0.0408804	0.04519	0.02737461	0.01921	0.0408804	0.04519	-1.328	0.01447	T	.	.	0.079	0.07130	B	.	.	-1.033604	0.00725	0.022	0.20820296910252703	0.00766	0.00261	0.01428	N	AEFDBI	.	.	.	-1.88432869561469	0.00370	0.01588867	-1.85359201575699	0.00602	0.02676117	0.818471052505629	0.24481	0.67177	0.52595	0	0.547309	0.14657	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.0	-1.69	0.07747	-1.084000	0.03503	-1.939000	0.04464	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2239:0.166:0.61	4.548	0.11488	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2985.33	213	chr14	104941596	.	C	T	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.716;DP=3650;ExcessHet=0;FS=2.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.903;SOR=0.526	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr14	104943110	104943110	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A12041G:p.Q4014R,AHNAK2:NM_138420:exon7:c.A12341G:p.Q4114R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00192871787206	.	0.00199681	0.0002	0.0016	8.639e-05	0.0001	0	0	0	0.0007	0.0003842	10	26028	rs578153196	4.798e-05	0.0002	3.273e-05	6.339e-05	0.0007	3.867e-05	3.547e-05	0.0005	0.0004	0.0007	0	0	2.526e-05	0	0.0003	4.502e-06	4.982e-05	0.0004	0.0002	0.0006	0.0002	0.0001	0.0005	0.0001	9.411e-05	0.0003	0.0003	0.0005	0	6.656e-05	0	0.0002	0	0	0	0.0010	0	0.614	0.05404	T	0.552	0.09361	T	0.73	0.42641	P	0.547	0.49095	P	0.193674	0.03268	N	5.581720	1	0.08975	N	0.255	0.09829	N	5.94	0.00616	T	-0.49	0.15578	N	0.032	0.00825	-0.8940	0.48577	T	0.003	0.00832	T	10	0.010619253	0.00236	T	0.001929	0.03430	T	0.101	0.28911	.	.	0.0138822411134	0.00435	0.003946682079942893	0.00369	.	.	0.1950930655	0.00328	T	0.017491	0.14263	T	-0.675439	0.00051	T	-0.834547	0.01184	T	0.0374936032062193	0.03242	T	0.142186	0.01152	T	0.014614942	0.00101	0.023362888	0.00350	0.014614942	0.00100	0.023362888	0.00350	-0.421	0.00537	T	.	.	0.078	0.06942	B	.	.	-0.437742	0.02075	0.192	0.19975960149253491	0.00698	0.02114	0.06254	N	AEFBI	.	.	.	-1.69840097774463	0.00848	0.03665968	-1.79168245048898	0.00786	0.0350779	0.00335738294692144	0.10072	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.46	-1.19	0.09091	-3.592000	0.00470	-8.117000	0.01025	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.243:0.0:0.757	8.367	0.31552	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000539	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2045.33	288	chr14	104943110	.	T	C	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.698;DP=5315;ExcessHet=0;FS=3.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-23.04;QD=3.66;ReadPosRankSum=0.752;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104943471	104943471	T	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A11680T:p.T3894S,AHNAK2:NM_138420:exon7:c.A11980T:p.T3994S	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00539137	0.0021	0.0006	0.0003	0.0103	0	0.0001	0.0078	0.0086	0.0011526	30	26028	rs200747295	0.0010	0.0011	0.0008	0.0012	0.0090	0.0010	0.0010	0.0085	0.0083	0.0003	0.0002	3.828e-05	0.0051	5.627e-05	0.0014	0.0002	0.0045	0.0090	0.0013	0.0014	0.0009	0.0017	0.0174	0.0011	0.0011	0.0143	0.0132	0.0006	0	0.0001	0	0.0131	9.52e-05	0	0.0002	0.0044	0.0174	1.0	0.00964	T	1.0	0.01155	T	0.033	0.20350	B	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	5.79	0.00674	T	1.33	0.00912	N	0.035	0.01004	-0.9453	0.41764	T	0.001	0.00222	T	9	0.00428766	0.00086	T	.	.	.	0.030	0.07022	0.113	0.02240	0.0138822411134	0.00435	0.010286315505471466	0.00989	.	.	0.222926497459	0.01486	T	0.016224	0.13452	T	-0.710354	0.00032	T	-0.78212	0.02390	T	0.00218717536415347	0.00023	T	0.185981	0.01934	T	0.016578494	0.00207	0.022815857	0.00300	0.016578494	0.00207	0.022815857	0.00300	2.293	0.00039	T	.	.	0.079	0.07130	B	.	.	-1.824141	0.00149	0.002	0.16891457384060568	0.00471	0.00470	0.02253	N	AEFBI	.	.	.	-2.45546062015118	0.00020	0.0008736942	-2.38746393680055	0.00042	0.001844221	0.00411138777418775	0.10422	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-4.77	0.02985	-3.735000	0.00426	-20.000000	0.00162	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.0979:0.0754:0.5937	4.038	0.09220	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001119	0.005882	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	24410.8	288	chr14	104943471	.	T	A	24410.8	.	AC=2;AF=0.053;AN=38;DP=5301;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.84;QD=31.32;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	1	0	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	282	chr14	104944175	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=5899;ExcessHet=0;FS=27.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.72;MQRankSum=-20.44;QD=2.44;ReadPosRankSum=-5.138;SOR=3.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	986.33	282	chr14	104944178	.	G	C	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=5889;ExcessHet=0;FS=23.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=-20.11;QD=2.08;ReadPosRankSum=-4.751;SOR=3.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V,AHNAK2:NM_138420:exon7:c.C11264T:p.A3755V	.	432	1078	12	0	0	12	0.00553506	.	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001067	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	368.33	282	chr14	104944187	.	G	A	368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.3;DP=5870;ExcessHet=0;FS=29.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-19.78;QD=0.81;ReadPosRankSum=-5.324;SOR=3.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104944556	104944556	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10595T:p.T3532I,AHNAK2:NM_138420:exon7:c.C10895T:p.T3632I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0130735102392	0.0002	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs202237811	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.963e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0006	9.765e-05	8.276e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0034	0.0002	0	0.0006	0.175	0.22400	T	0.245	0.24054	T	0.358	0.33818	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	5.86	0.00639	T	-1.03	0.27052	N	0.14	0.13911	-0.9405	0.42536	T	0.004	0.01159	T	9	0.016932905	0.00359	T	0.013074	0.32181	T	0.033	0.08068	.	.	0.0401082797425	0.02173	0.010944020111439067	0.01055	.	.	0.2281909585	0.01836	T	0.02077	0.16293	T	-0.517433	0.00455	T	-0.633861	0.10123	T	0.0228993454467245	0.01012	T	0.486851	0.14885	T	0.038488995	0.05137	0.03578337	0.02895	0.038488995	0.05137	0.03578337	0.02895	-8.278	0.62949	D	.	.	0.159	0.35098	B	.	.	1.511782	0.19420	14.25	0.81535265342177599	0.13733	0.03752	0.09057	N	AEFBI	.	.	.	-0.670152928697176	0.16876	0.8636414	-0.789697700629114	0.14747	0.7721846	1.37143271644235E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.11	1.88	0.24630	-0.110000	0.10794	-9.866000	0.00767	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1073:0.0:0.5615:0.3313	5.857	0.17976	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5463.33	266	chr14	104944556	.	G	A	5463.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=5537;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.7;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.02632	1757.33	73	chr14	104945711	.	T	C	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.905;DP=2764;ExcessHet=0;FS=10.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.58;MQRankSum=-14.13;QD=8.1;ReadPosRankSum=2.25;SOR=1.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3357.29	89	chr14	104946202	.	GAC	G	3357.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=3187;ExcessHet=0;FS=13.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.91;MQRankSum=-15.27;QD=10.73;ReadPosRankSum=-0.998;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	102788.0	182	chr14	104946204	.	C	*	102788.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.816;DP=4626;ExcessHet=4.0818;FS=6.012;InbreedingCoeff=-0.2179;MLEAC=1;MLEAF=0.026;MQ=51.53;MQRankSum=-14.93;QD=22.95;ReadPosRankSum=-1.329;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3438.29	168	chr14	104946206	.	T	TGC	3438.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=4205;ExcessHet=0;FS=15.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.75;MQRankSum=-15.38;QD=10.88;ReadPosRankSum=-1.255;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	18	0	1	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K,AHNAK2:NM_138420:exon7:c.G8611A:p.E2871K	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003876	0.05263	1585.83	182	chr14	104946840	.	C	T	1585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=4432;ExcessHet=0.119;FS=13.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.75;MQRankSum=-9.129;QD=2.1;ReadPosRankSum=-3.925;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	17	0	2	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H,AHNAK2:NM_138420:exon7:c.A8607C:p.Q2869H	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001020	0.000000	0.001359	0.000000	0.000000	0.000000	0.003185	0.000000	0.05263	1417.83	182	chr14	104946844	.	T	G	1417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.736;DP=4405;ExcessHet=0.119;FS=11.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-9.179;QD=1.85;ReadPosRankSum=-3.824;SOR=1.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	17	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E,AHNAK2:NM_138420:exon7:c.C8605G:p.Q2869E	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.05263	1199.83	182	chr14	104946846	.	G	C	1199.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.192;DP=4401;ExcessHet=0.119;FS=15.603;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-8.204;QD=1.58;ReadPosRankSum=-4.039;SOR=1.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	17	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T,AHNAK2:NM_138420:exon7:c.G8602A:p.A2868T	.	422	1059	41	0	0	41	0.0189903	.	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006122	0.000000	0.001359	0.026627	0.000000	0.017241	0.000000	0.000000	0.05263	888.83	182	chr14	104946849	.	C	T	888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=4414;ExcessHet=0.119;FS=15.93;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.83;MQRankSum=-8.605;QD=1.15;ReadPosRankSum=-4.102;SOR=1.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1269:.	17	0	2	0
chr14	104947539	104947539	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7612A:p.D2538N,AHNAK2:NM_138420:exon7:c.G7912A:p.D2638N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00586241466403	0.0031	0.00219649	0.0009	0.0099	0.0003	0	0	1.499e-05	0	0.0002	0.0008473	131	154602	rs202164616	0.0003	0.0003	0.0003	0.0003	0.0094	0.0003	0.0003	0.0085	0.0082	0.0094	0.0009	0	0	0	0.0010	1.259e-05	0.0011	0.0002	0.0029	0.0029	0.0029	0.0029	0.0098	0.0027	0.0026	0.0090	0.0087	0.0098	0	0.0019	0	0	0	0	2.951e-05	0.0034	0	0.013	0.53900	D	0.023	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	.	.	.	.	0.999998	0.58761	D	2.41	0.69639	M	4.71	0.01655	T	-2.01	0.46337	N	0.045	0.01740	-0.9696	0.37283	T	0.009	0.03096	T	9	0.0057708323	0.00129	T	0.005862	0.15251	T	0.130	0.35528	.	.	0.0401082797425	0.02173	0.005805992069040916	0.00550	.	.	0.238156884909	0.02626	T	0.027827	0.20292	T	-0.675243	0.00051	T	-0.733321	0.04179	T	0.0458813776780495	0.04762	T	0.711729	0.32279	T	0.037088655	0.04688	0.049358774	0.07525	0.037088655	0.04688	0.049358774	0.07524	-8.031	0.61281	D	.	.	0.115	0.22933	B	.	.	1.170408	0.15603	11.97	0.99665289920795452	0.78202	0.05900	0.11851	N	AEFBI	.	.	.	-0.350951600074021	0.27237	1.492754	-0.564613488891995	0.20418	1.099997	0.077260475337194	0.15753	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.03	3.03	0.34070	-0.164000	0.09972	-1.977000	0.04403	-1.847000	0.00575	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	11.203	0.47982	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4742.33	247	chr14	104947539	.	C	T	4742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=5043;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.43;MQRankSum=2.28;QD=11.24;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr14	104949074	104949074	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C6077G:p.P2026R,AHNAK2:NM_138420:exon7:c.C6377G:p.P2126R	.	838	683	1	0	0	1	0.000731529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00399361	0.0347	0.0464	0.0173	0.0541	0.0137	0.0229	0.0459	0.0748	0.0008068	21	26028	rs545833279	0.0007	0.0010	0.0007	0.0008	0.0032	0.0007	0.0007	0.0028	0.0026	0.0016	0.0009	0.0011	0.0029	0.0004	0.0006	0.0003	0.0014	0.0032	0.0005	0.0008	0.0006	0.0004	0.0011	0.0004	0.0003	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0008	0	0	0.0002	0.0010	0.0011	0.004	0.65419	D	0.017	0.60337	D	0.485	0.36856	P	0.261	0.39516	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	3.6	0.04494	T	-5.76	0.87835	D	0.094	0.07398	-1.0816	0.07041	T	0.036	0.15509	T	9	0.0035232008	0.00063	T	.	.	.	0.098	0.28162	.	.	.	.	0.009788836885484457	0.00940	.	.	0.221396118402	0.01392	T	0.156222	0.49830	T	-0.235321	0.15950	T	-0.575799	0.14921	T	0.0605766607648034	0.07258	T	0.371363	0.08780	T	0.08241573	0.18984	0.16221161	0.37691	0.08241573	0.18984	0.16221161	0.37690	-7.718	0.59133	D	.	.	0.130	0.27880	B	.	.	1.022998	0.14027	10.59	0.99597670973215935	0.73983	0.75923	0.37200	D	AEFBI	.	.	.	-0.146980122350168	0.35362	2.030258	-0.285692830019549	0.28568	1.593936	6.08133509168249E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.16	3.24	0.36257	1.017000	0.29591	0.261000	0.16544	-2.030000	0.00430	0.718000	0.28801	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6085:0.3915	9.245	0.36682	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5922.69	.	chr14	104949074	.	G	C	5922.69	.	AC=2;AF=0.1;AN=20;DP=2040;ExcessHet=0;FS=0;InbreedingCoeff=0.7744;MLEAC=3;MLEAF=0.15;MQ=49.18;QD=31.32;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	9	1	0	9
chr14	104949094	104949094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6057C:p.M2019I,AHNAK2:NM_138420:exon7:c.G6357C:p.M2119I	.	826	695	1	0	0	1	0.000718907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0368	0.0484	0.0183	0.0610	0.0142	0.0240	0.0466	0.0793	3.84e-05	1	26028	rs199873247	0.0009	0.0010	0.0008	0.0009	0.0042	0.0008	0.0008	0.0036	0.0034	0.0016	0.0010	0.0010	0.0042	0.0005	0.0006	0.0004	0.0015	0.0034	0.0006	0.0008	0.0007	0.0005	0.0016	0.0005	0.0004	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0016	0	0	0.0003	0.0010	0.0016	0.208	0.19782	T	0.558	0.09175	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	1	0.21028	N	0.55	0.14455	N	5.89	0.00629	T	0.03	0.06612	N	0.027	0.00571	-0.9084	0.47049	T	0.002	0.00738	T	9	0.0030561388	0.00050	T	.	.	.	0.020	0.03691	0.255	0.19533	.	.	0.005157390116853562	0.00486	.	.	0.178342416883	0.00079	T	0.015128	0.12745	T	-0.376966	0.03256	T	-0.779262	0.02476	T	0.00239159522359801	0.00025	T	0.480552	0.14510	T	0.13128155	0.30606	0.12269506	0.29593	0.13128155	0.30605	0.12269506	0.29592	-5.577	0.42582	T	.	.	0.253	0.48736	B	.	.	0.092124	0.04957	1.523	0.58574301978269405	0.06024	0.02166	0.06356	N	AEFBI	.	.	.	-0.990019499376126	0.08816	0.4148285	-1.00662784791001	0.09639	0.4807123	2.38740922418111E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	2.38	0.28415	-2.219000	0.01301	-20.000000	0.00162	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.205:0.4504:0.2466:0.0979	3.163	0.06135	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.098684	0.081250	0.122642	0.074468	0.000000	0.074468	0.076577	0.136792	0.09091	7945.16	.	chr14	104949094	.	C	G	7945.16	.	AC=2;AF=0.091;AN=22;DP=1963;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.136;MQ=50.52;QD=30.63;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	10	1	0	8
chr14	104949096	104949096	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A6055G:p.M2019V,AHNAK2:NM_138420:exon7:c.A6355G:p.M2119V	.	829	690	1	2	0	5	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0393	0.0626	0.0205	0.0640	0.0145	0.0246	0.0502	0.0813	0.0002689	7	26028	rs199970974	0.0016	0.0076	0.0016	0.0016	0.0113	0.0015	0.0015	0.0103	0.0099	0.0113	0.0024	0.0015	0.0050	0.0006	0.0021	0.0006	0.0032	0.0047	0.0055	0.0093	0.0057	0.0052	0.0170	0.0050	0.0049	0.0155	0.0149	0.0170	0.0035	0.0036	0	0.0034	0	0	0.0008	0.0080	0.0035	1.0	0.00964	T	0.444	0.13177	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.005	0.01165	N	5.91	0.00623	T	0.22	0.04694	N	0.017	0.00226	-0.9653	0.38151	T	0.001	0.00348	T	9	0.0026950836	0.00042	T	.	.	.	0.008	0.00669	.	.	.	.	0.005194985040938393	0.00490	.	.	0.186300992966	0.00166	T	0.015031	0.12687	T	-0.454455	0.01063	T	-0.89057	0.00571	T	0.000298728606434334	0.00002	T	0.363264	0.08416	T	0.034015387	0.03734	0.057699602	0.10537	0.034015387	0.03734	0.057699602	0.10536	-1.675	0.02164	T	.	.	0.056	0.00428	B	.	.	-2.264818	0.00055	0.001	0.31825851185022491	0.01813	0.00319	0.01677	N	AEFBI	.	.	.	-2.08229068781637	0.00140	0.00599041	-2.05838207092252	0.00229	0.01010856	3.56203564765778E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	-2.8	0.05477	-3.781000	0.00414	-20.000000	0.00162	-3.188000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1064:0.1654:0.2303:0.4979	3.036	0.05753	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.109354	0.113924	0.130094	0.075269	0.000000	0.076087	0.076577	0.154206	0.09091	7945.16	.	chr14	104949096	.	T	C	7945.16	.	AC=2;AF=0.091;AN=22;DP=1969;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.136;MQ=50.86;QD=29.51;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	10	1	0	8
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L,AHNAK2:NM_138420:exon7:c.C6170T:p.P2057L	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.003026	0.000000	0.000000	0.011905	0.000000	0.000000	0.010309	0.000000	0.04545	338.5	.	chr14	104949281	.	G	A	338.5	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-4.592;DP=1802;ExcessHet=0;FS=17.302;InbreedingCoeff=-0.0476;MLEAC=2;MLEAF=0.091;MQ=43.83;MQRankSum=-0.314;QD=6.91;ReadPosRankSum=4.36;SOR=0.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	10	0	1	8
chr14	104949302	104949302	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5849A:p.G1950D,AHNAK2:NM_138420:exon7:c.G6149A:p.G2050D	.	.	.	.	.	.	.	.	.	.	.	3255090	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00204880542899	.	.	2.331e-05	0	0	0	0	2.43e-05	0	8.322e-05	3.84e-05	1	26028	rs781128485	7.506e-05	0.0004	3.524e-05	0.0001	0.0007	6.083e-05	5.59e-05	0.0005	0.0005	0.0002	0	0	7.628e-05	0	0	1.442e-05	0.0002	0.0007	0.0001	0.0004	0.0001	7.772e-05	0.0003	5.769e-05	4.466e-05	0.0001	9.43e-05	0.0002	0	0	0	0	0	0	2.51e-05	0	0.0003	0.087	0.32453	T	0.098	0.39040	T	0.998	0.73220	D	0.897	0.63631	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.13	0.02865	T	-1.2	0.30555	N	0.139	0.13769	-1.0751	0.08328	T	0.018	0.07423	T	9	0.14253703	0.27071	T	0.002049	0.03748	T	0.079	0.23065	0.338	0.32816	0.0297737177859	0.01360	0.010330589381271002	0.00994	.	.	0.217171877623	0.01153	T	0.022347	0.17246	T	-0.299869	0.08672	T	-0.668518	0.07704	T	0.244044899940491	0.22604	T	0.274073	0.04660	T	0.04568146	0.07518	0.05429044	0.09308	0.04568146	0.07518	0.05429044	0.09308	-8.36	0.63498	D	.	.	0.173	0.38025	B	.	.	0.536375	0.09050	5.833	0.71242507928752474	0.09563	0.02673	0.07298	N	AEFBI	.	.	.	-0.831010570298139	0.12523	0.610909	-1.15739752751733	0.06635	0.3200831	0.0231572066422917	0.13486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.55	-6.01	0.02015	-1.814000	0.01817	-10.848000	0.00659	-1.994000	0.00453	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2469:0.2332:0.4415:0.0783	5.067	0.13923	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.37	8	chr14	104949302	.	C	T	367.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=1849;ExcessHet=0;FS=18.623;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.026;MQ=37.79;MQRankSum=-1.412;QD=15.97;ReadPosRankSum=-3.792;SOR=4.977	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	18	0	1	0
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A,AHNAK2:NM_138420:exon7:c.A6145G:p.T2049A	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027982	0.093220	0.009967	0.024096	0.000000	0.038462	0.000000	0.025253	0.1	927.69	14	chr14	104949306	.	T	C	927.69	.	AC=2;AF=0.1;AN=20;DP=2030;ExcessHet=0;FS=0;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=37.47;QD=31.34;SOR=1.828	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	9	1	0	9
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T,AHNAK2:NM_138420:exon7:c.G6127A:p.A2043T	.	455	1049	14	4	0	22	0.0103774	.	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.029447	0.113636	0.019284	0.018182	0.000000	0.017241	0.008000	0.016667	0.05263	512.81	48	chr14	104949324	.	C	T	512.81	.	AC=2;AF=0.053;AN=38;DP=2389;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=37.8;QD=28.69;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	18	1	0	0
chr14	104949354	104949354	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5797G:p.T1933A,AHNAK2:NM_138420:exon7:c.A6097G:p.T2033A	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00530944409628	.	.	0.0003	0.0019	0.0003	0.0003	0	6.254e-05	0	0.0004	0.000304	47	154602	rs199921891	5.22e-05	0.0003	5.404e-05	5.035e-05	0.0008	4.265e-05	3.89e-05	0.0005	0.0004	0.0008	6.982e-05	0	5.047e-05	1.941e-05	0	1.371e-05	0.0002	0.0002	9.433e-05	0.0005	0.0001	4.859e-05	0.0002	5.419e-05	4.261e-05	8.75e-05	6.174e-05	0.0002	0	0	0	0	0	0	7.261e-05	0.0006	0	0.779	0.03298	T	1.0	0.01155	T	0.012	0.16265	B	0.034	0.22546	B	.	.	.	.	1	0.20482	N	0.66	0.16226	N	4.11	0.02916	T	-0.62	0.18248	N	0.154	0.15888	-0.8953	0.48455	T	0.005	0.01725	T	9	0.013001382	0.00277	T	0.005309	0.13587	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.00816948717190958	0.00781	.	.	0.236769318581	0.02507	T	0.016676	0.13737	T	-0.290814	0.09555	T	-0.655511	0.08573	T	0.00312814630424437	0.00033	T	0.418758	0.11073	T	0.015926229	0.00166	0.02038706	0.00133	0.015926229	0.00165	0.02038706	0.00133	-3.04	0.10618	T	.	.	0.096	0.15160	B	.	.	0.365243	0.07376	4.000	0.55594911356506382	0.05375	0.01237	0.04368	N	AEFBI	.	.	.	-1.08201176734525	0.06975	0.322639	-1.06478520896596	0.08402	0.4129391	1.42626948549438E-4	0.05573	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	1.35	0.21078	-0.308000	0.08196	-20.000000	0.00162	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2131:0.2467:0.5403	3.059	0.05821	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023563	0.073333	0.016438	0.016949	0.000000	0.034483	0.000000	0.016129	0.05263	261.81	94	chr14	104949354	.	T	C	261.81	.	AC=2;AF=0.053;AN=38;DP=2801;ExcessHet=0;FS=0;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.053;MQ=37.69;QD=23.8;SOR=0.859	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	18	1	0	0
chr14	104949422	104949422	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5729T:p.S1910L,AHNAK2:NM_138420:exon7:c.C6029T:p.S2010L	.	445	1076	1	0	0	1	0.000464468	.	.	.	2807481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.067	0.0101098432989	.	0.00139776	0.0002	0.0001	0.0003	0.0006	0	0.0002	0	0.0003	0.0002199	34	154602	rs201899110	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0003	0.0003	0	0.0006	0	0.0017	0.0001	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0004	0	0.0004	0	0	0.0002	0.0005	0.0009	0.083	0.33091	T	0.172	0.30241	T	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	2.36	0.67893	M	4.05	0.03092	T	-3.19	0.64593	D	0.137	0.13484	-1.0820	0.06965	T	0.041	0.17827	T	9	0.03285396	0.01446	T	0.01011	0.26258	T	0.067	0.19503	.	.	0.214338557667	0.21045	0.01346506961960244	0.01304	.	.	0.214925557375	0.01038	T	0.024657	0.18589	T	-0.525336	0.00409	T	-0.633804	0.10128	T	0.037095270879791	0.03172	T	0.476352	0.14285	T	0.049542118	0.08812	0.09425488	0.22303	0.049542118	0.08812	0.09425488	0.22302	-9.404	0.70260	D	.	.	0.09	0.12607	B	.	.	2.603530	0.33800	19.45	0.99603908634374128	0.74397	0.03471	0.08627	N	AEFBI	.	.	.	-0.0225666740387743	0.40836	2.431969	-0.268595318667244	0.29140	1.630174	6.1762603597594E-4	0.07460	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.72	3.72	0.41857	0.496000	0.22207	-2.722000	0.03429	0.617000	0.49538	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.7985:0.2015	10.044	0.41345	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001654	0.000000	0.000000	0.004167	0.000000	0.000000	0.006897	0.000000	0.02778	2782.72	326	chr14	104949422	.	G	A	2782.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.44;DP=5911;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=56.77;MQRankSum=-3.853;QD=10.54;ReadPosRankSum=0.056;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:260,0:260:99:.:.:0,120,1800:.	17	0	1	1
chr14	104949873	104949873	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5278T:p.P1760S,AHNAK2:NM_138420:exon7:c.C5578T:p.P1860S	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0038	0.00978435	0.0028	0.0121	0.0058	0.0014	0	0.0003	0	0.0069	0.0026649	412	154602	rs112183935	0.0010	0.0010	0.0009	0.0011	0.0099	0.0009	0.0009	0.0090	0.0086	0.0099	0.0050	3.879e-05	0.0006	0	0.0019	0.0003	0.0015	0.0054	0.0038	0.0041	0.0037	0.0038	0.0119	0.0035	0.0034	0.0100	0.0096	0.0108	0	0.0019	0	0.0008	0.0002	0.0035	0.0004	0.0054	0.0119	0.032	0.44694	D	0.021	0.58089	D	0.79	0.44599	P	0.373	0.43650	B	.	.	.	.	1	0.22627	N	2.01	0.54746	M	4.1	0.02944	T	-4.56	0.78636	D	0.114	0.10198	-1.0202	0.23649	T	0.012	0.04795	T	9	0.007196754	0.00164	T	.	.	.	0.055	0.15663	.	.	0.0666544352282	0.05500	0.02940546891295007	0.02889	.	.	0.27526640892	0.06841	T	0.032167	0.22369	T	-0.541107	0.00330	T	-0.540644	0.18234	T	0.0637342760255941	0.07742	T	0.566043	0.20025	T	0.072217695	0.16047	0.09518408	0.22564	0.072217695	0.16046	0.09518408	0.22563	-6.695	0.51773	T	.	.	0.138	0.30238	B	.	.	0.944403	0.13202	9.703	0.98846917594735539	0.47220	0.62796	0.31890	D	AEFBI	.	.	.	-0.263564169738394	0.30567	1.705507	-0.407053576350136	0.24790	1.359493	8.86963423187675E-4	0.07960	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.51	2.58	0.30011	1.811000	0.38580	-1.092000	0.06355	-0.921000	0.02197	0.918000	0.31901	0.000000	0.08366	0.000000	0.00833	0.0825:0.1515:0.6089:0.157	4.703	0.12216	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005482	0.005618	0.005435	0.004167	0.000000	0.000000	0.006623	0.007752	0.02632	8502.33	632	chr14	104949873	.	G	A	8502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.83;DP=6072;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.5;MQRankSum=0.711;QD=13.45;ReadPosRankSum=-0.731;SOR=0.607	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	18	0	1	0
chr14	104949912	104949912	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5239C:p.D1747H,AHNAK2:NM_138420:exon7:c.G5539C:p.D1847H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0145780778284	.	.	3.358e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs778258861	8.318e-06	1.034e-05	5.519e-06	1.114e-05	0.0002	4.44e-06	3.5e-06	4.908e-05	3.165e-05	6.005e-05	0	0	0.0001	0	0.0002	9.112e-07	0	3.509e-05	4.081e-05	3.996e-05	3.983e-05	4.184e-05	0.0002	1.765e-05	1.162e-05	3.357e-05	1.987e-05	0.0001	0	0	0	0.0002	0	0	0	0.0005	0	0.427	0.09629	T	0.252	0.23570	T	1.0	0.90584	D	0.964	0.71005	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	4.38	0.02255	T	-1.15	0.29525	N	0.189	0.20660	-1.0657	0.10386	T	0.021	0.09009	T	9	0.17626292	0.32601	T	0.014578	0.34790	T	0.104	0.29647	.	.	0.101711395817	0.09552	0.019053011128951334	0.01859	.	.	0.249059841037	0.03669	T	0.02148	0.16719	T	-0.362985	0.03964	T	-0.577033	0.14811	T	0.11829027181803	0.14262	T	0.756624	0.37993	T	0.13751939	0.31838	0.11984194	0.28925	0.13751939	0.31838	0.11984194	0.28924	-9.067	0.68127	D	.	.	0.321	0.54565	B	.	.	2.211177	0.28211	17.72	0.9604758452470451	0.28552	0.34578	0.25101	N	AEFBI	.	.	.	-0.0280957209580275	0.40586	2.412791	-0.203325002943583	0.31415	1.777762	0.409974317370906	0.20203	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	1.589000	0.36253	-0.062000	0.12412	0.548000	0.25860	0.495000	0.26917	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.971	0.63752	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	16081.8	661	chr14	104949912	.	C	G	16081.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=7093;ExcessHet=0.119;FS=0.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.23;MQRankSum=-12.21;QD=16.18;ReadPosRankSum=-0.333;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:478,0:478:99:.:.:0,120,1800:.	17	0	2	0
chr14	104949951	104949951	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5200A:p.G1734R,AHNAK2:NM_138420:exon7:c.G5500A:p.G1834R	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0192898330591	.	0.000399361	0.0003	0.0004	0.0003	0.0002	0	0.0002	0	0.0010	0.0001153	3	26028	rs554644072	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0005	0.0004	0.0012	0.0003	0.0002	0.0016	0.0002	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0002	0	0	0	0	0.0003	0	0.0011	0.115	0.28520	T	0.042	0.50226	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	2.31	0.66127	M	4.13	0.02865	T	-2.15	0.48687	N	0.171	0.18239	-1.0499	0.14425	T	0.028	0.12190	T	9	0.022407293	0.00559	T	0.01929	0.41613	T	0.111	0.31313	0.34	0.33141	0.18274738541	0.17906	0.00587910249100662	0.00556	.	.	0.244473665953	0.03208	T	0.095465	0.39627	T	-0.504965	0.00536	T	-0.574829	0.15009	T	0.0437003384114103	0.04366	T	0.671933	0.28057	T	0.09114372	0.21348	0.13883583	0.33145	0.09114372	0.21347	0.13883583	0.33144	-9.817	0.72809	D	.	.	0.372	0.57957	A	.	.	1.827379	0.23222	15.93	0.99457151408777211	0.65581	0.13892	0.18109	N	AEFBI	.	.	.	-0.168509318770573	0.34450	1.966509	-0.38233923218877	0.25524	1.40415	0.0280436394189413	0.13809	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.52	3.61	0.40494	0.148000	0.16042	-20.000000	0.00162	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9102:0.0:0.0898	11.862	0.51751	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001073	0.000000	0.000000	0.008403	0.000000	0.000000	0.000000	0.000000	0.05263	16899.8	295	chr14	104949951	.	C	T	16899.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=5624;ExcessHet=0;FS=1.46;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.77;MQRankSum=10.12;QD=24.49;ReadPosRankSum=-0.659;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:231,0:231:99:.:.:0,120,1800:.	18	1	0	0
chr14	104949953	104949953	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5198A:p.F1733Y,AHNAK2:NM_138420:exon7:c.T5498A:p.F1833Y	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0293759738401	.	0.000399361	0.0003	0.0002	0.0003	0.0002	0	0.0002	0	0.0010	7.68e-05	2	26028	rs534212995	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0008	0.0007	0.0004	0.0004	0.0012	0.0003	0	0.0016	8.382e-05	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0002	0	0.0002	0	0	0.0002	0	0.0009	0.023	0.48186	D	0.01	0.65728	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	1	0.81001	D	2.475	0.71894	M	4.7	0.01673	T	-1.48	0.36189	N	0.294	0.33250	-1.0185	0.24204	T	0.022	0.09147	T	9	0.038820714	0.02328	T	0.029376	0.51898	D	0.139	0.37390	.	.	0.0401082797425	0.02173	0.005535377470802446	0.00523	.	.	0.294659793377	0.09607	T	0.101032	0.40740	T	-0.412928	0.01901	T	-0.438723	0.28951	T	0.06032137696325	0.07220	T	0.650435	0.26116	T	0.18961999	0.40512	0.118280776	0.28553	0.18961999	0.40512	0.118280776	0.28552	-11.621	0.82956	D	.	.	0.543	0.66476	A	.	.	2.715210	0.35499	19.91	0.96318178851053482	0.29403	0.88622	0.48636	D	AEFBI	.	.	.	0.0352532996714609	0.43466	2.638882	-0.143200958505567	0.33671	1.928493	0.995369512603659	0.34087	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.52	4.52	0.54797	6.016000	0.70451	0.344000	0.17410	0.689000	0.82905	0.802000	0.29747	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	12.874	0.57372	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001073	0.000000	0.000000	0.008403	0.000000	0.000000	0.000000	0.000000	0.05263	16899.8	295	chr14	104949953	.	A	T	16899.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.21;DP=5622;ExcessHet=0;FS=1.46;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.79;MQRankSum=10.12;QD=31.88;ReadPosRankSum=-1.046;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:231,0:231:99:.:.:0,120,1800:.	18	1	0	0
chr14	104950538	104950538	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4613T:p.A1538V,AHNAK2:NM_138420:exon7:c.C4913T:p.A1638V	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0032	0.0179712	0.0066	0.0113	0.0028	0.0447	0.0008	0.0019	0.0068	0.0077	0.0068004	177	26028	rs185154010	0.0038	0.0039	0.0038	0.0038	0.0311	0.0037	0.0037	0.0296	0.0290	0.0096	0.0026	0.0009	0.0311	0.0008	0.0026	0.0022	0.0096	0.0087	0.0065	0.0068	0.0062	0.0067	0.0490	0.0061	0.0060	0.0439	0.0420	0.0098	0	0.0029	0.0003	0.0490	0.0009	0.0035	0.0023	0.0100	0.0200	0.174	0.22486	T	0.273	0.22154	T	0.486	0.36871	P	0.23	0.38212	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	6.54	0.00525	T	-1.38	0.34198	N	0.05	0.02179	-0.9705	0.37094	T	0.000	0.00114	T	9	0.003598839	0.00065	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0014970766985751634	0.00138	.	.	0.216862082481	0.01137	T	0.020729	0.16269	T	-0.699695	0.00037	T	-0.73686	0.04024	T	0.00540246813598207	0.00059	T	0.343166	0.07474	T	0.027432075	0.01935	0.038549893	0.03748	0.027432075	0.01935	0.038549893	0.03747	-5.533	0.42176	T	.	.	0.074	0.05274	B	.	.	-0.790880	0.01125	0.052	0.9503705482766367	0.26039	0.01896	0.05817	N	AEFBI	.	.	.	-1.33397493956742	0.03294	0.146895	-1.45999011727532	0.02681	0.1237557	2.62773855013347E-4	0.06244	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.59	-2.85	0.05392	0.636000	0.24333	-11.791000	0.00575	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3492:0.0:0.4924:0.1584	4.426	0.10931	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004881	0.005435	0.002732	0.000000	0.000000	0.008621	0.006410	0.000000	0.07895	16116.8	316	chr14	104950538	.	G	A	16116.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.39;DP=5937;ExcessHet=0;FS=0.563;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=51.18;MQRankSum=-17.92;QD=22.32;ReadPosRankSum=-3.889;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:246,0:246:99:.:.:0,120,1800:.	17	1	1	0
chr14	104950913	104950913	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4238C:p.E1413A,AHNAK2:NM_138420:exon7:c.A4538C:p.E1513A	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00189835385421	0.0003	0.00159744	0.0008	0.0024	0.0026	0	0.0002	0.0001	0.0011	0.0022	0.0007309	113	154602	rs202002473	0.0004	0.0006	0.0003	0.0004	0.0028	0.0003	0.0003	0.0024	0.0022	0.0028	0.0014	7.825e-05	0.0001	1.939e-05	0.0007	0.0002	0.0005	0.0017	0.0008	0.0011	0.0008	0.0008	0.0018	0.0007	0.0007	0.0015	0.0013	0.0018	0	0.0012	0	0.0002	0	0	0.0002	0.0012	0.0013	0.076	0.34269	T	0.313	0.19539	T	0.6	0.39325	P	0.233	0.38358	B	.	.	.	.	1	0.08975	N	2.365	0.68172	M	5.62	0.00808	T	-2.02	0.46503	N	0.193	0.21188	-0.9673	0.37754	T	0.004	0.01400	T	9	0.0065050125	0.00147	T	0.001898	0.03351	T	0.052	0.14661	.	.	0.0297737177859	0.01360	0.011221864502770773	0.01082	.	.	0.209574118257	0.00793	T	0.08377	0.37130	T	-0.572418	0.00214	T	-0.601799	0.12659	T	0.00738633717951077	0.00085	T	0.60194	0.22516	T	0.040579304	0.05817	0.038342047	0.03681	0.040579304	0.05817	0.038342047	0.03681	-10.15	0.74805	D	.	.	0.121	0.25133	B	.	.	0.893859	0.12673	9.198	0.94970680279328679	0.25898	0.07235	0.13259	N	AEFBI	.	.	.	-0.76290440512929	0.14285	0.7103453	-0.988616336885433	0.10041	0.503216	8.9221661839827E-4	0.07974	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.16	-4.07	0.03707	0.148000	0.16042	-5.271000	0.01782	0.603000	0.45986	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1027:0.2789:0.1048:0.5136	2.992	0.05621	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007937	0.006173	0.008287	0.008621	0.000000	0.008772	0.006897	0.008130	0.02632	540.33	70	chr14	104950913	.	T	G	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.363;DP=2700;ExcessHet=0;FS=6.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.98;MQRankSum=-1.25;QD=5.57;ReadPosRankSum=-3.152;SOR=1.698	GT:AD:DP:GQ:PL	0/0:246,0:246:99:0,120,1800	18	0	1	0
chr14	104950937	104950937	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4214C:p.V1405A,AHNAK2:NM_138420:exon7:c.T4514C:p.V1505A	.	447	1070	4	1	0	6	0.0027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00571125444378	.	0.00299521	0.0009	0.0040	0.0033	0.0007	0	0.0002	0.0011	0.0012	0.0009702	150	154602	rs201208145	0.0006	0.0011	0.0006	0.0006	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0021	7.887e-05	0.0007	0.0002	0.0020	0.0004	0.0012	0.0010	0.0020	0.0031	0.0020	0.0019	0.0050	0.0018	0.0017	0.0044	0.0042	0.0050	0	0.0015	0	0.0019	0.0001	0	0.0002	0.0019	0.0012	0.109	0.29288	T	0.11	0.37310	T	0.039	0.21116	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	2.39	0.68882	M	5.46	0.00959	T	-1.71	0.40660	N	0.137	0.13484	-0.9183	0.45783	T	0.004	0.01295	T	9	0.004491329	0.00092	T	0.005711	0.14802	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.004643344942407193	0.00437	.	.	0.252464830875	0.04031	T	0.019876	0.15755	T	-0.569701	0.00222	T	-0.636664	0.09914	T	0.011275037843846	0.00166	T	0.319768	0.06432	T	0.04307916	0.06649	0.037972894	0.03565	0.04307916	0.06649	0.037972894	0.03565	-3.578	0.17539	T	.	.	0.151	0.33412	B	.	.	0.774137	0.11441	8.048	0.92004548075681325	0.21340	0.03024	0.07904	N	AEFBI	.	.	.	-1.03340405883072	0.07917	0.3694327	-1.15566882780084	0.06666	0.3216504	1.63033908453476E-4	0.05721	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.06	-2.23	0.06539	0.776000	0.26365	-4.395000	0.02179	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.456:0.1544:0.3895:0.0	5.411	0.15649	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000571	0.000000	0.000000	0.004310	0.000000	0.000000	0.000000	0.000000	0.05263	1014.83	70	chr14	104950937	.	A	G	1014.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.61;DP=2663;ExcessHet=0.119;FS=17.074;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.2;MQRankSum=-3.291;QD=8.6;ReadPosRankSum=-0.58;SOR=3.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:246,0:246:99:.:.:0,120,1800:.	17	0	2	0
chr14	104951699	104951699	A	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T3452G:p.M1151R,AHNAK2:NM_138420:exon7:c.T3752G:p.M1251R	.	760	761	1	0	0	1	0.000656599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00671222132657	0.0005	0.000798722	0.0004	0.0013	0	0.0022	0	0.0002	0	0	0.0002975	46	154602	rs371153345	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.486e-05	0.0013	0.0012	0.0006	2.441e-05	0	0.0016	0	0	4.209e-05	0.0002	0	0.0006	0.0009	0.0005	0.0006	0.0039	0.0004	0.0004	0.0025	0.0021	0.0010	0	0.0003	0	0.0039	0	0	0.0001	0.0013	0	0.03	0.45393	D	0.262	0.22895	T	0.994	0.66517	D	0.808	0.58514	P	.	.	.	.	1	0.81001	D	2.275	0.64647	M	4.93	0.01395	T	-2.94	0.61435	D	0.404	0.44474	-1.0005	0.29774	T	0.015	0.05849	T	9	0.012310952	0.00265	T	0.006712	0.17727	T	0.141	0.37795	.	.	0.158396225186	0.15383	0.06467401083279146	0.06406	.	.	0.317640602589	0.13063	T	0.146132	0.48358	T	-0.463724	0.00931	T	-0.440673	0.28733	T	0.0573338404090408	0.06742	T	0.270173	0.04542	T	0.35176724	0.57204	0.37396824	0.62572	0.35176724	0.57204	0.37396824	0.62572	-7.214	0.55582	T	.	.	0.395	0.59285	A	.	.	1.693271	0.21574	15.26	0.67672346076508361	0.08425	0.86205	0.45441	D	AEFBI	.	.	.	0.0750068912806343	0.45297	2.78875	-0.0891998814256335	0.35835	2.077999	0.0013177447082987	0.08437	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.42	3.27	0.36580	1.552000	0.35852	-0.977000	0.06726	-0.111000	0.15049	0.309000	0.25405	0.000000	0.08366	0.001000	0.02609	0.9069:0.0:0.0931:0.0	8.744	0.33736	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1923.21	.	chr14	104951699	.	A	C	1923.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.28;DP=1323;ExcessHet=0;FS=18.129;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=58.72;MQRankSum=-2.076;QD=9.91;ReadPosRankSum=-1.131;SOR=1.201	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	9	0	1	9
chr14	104951730	104951730	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G3421A:p.G1141S,AHNAK2:NM_138420:exon7:c.G3721A:p.G1241S	.	754	764	2	2	0	6	0.00391134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00251995281677	0.0017	0.00159744	0.0006	0.0042	0.0004	0.0002	0	0.0002	0	0.0003	0.0004334	67	154602	rs200273508	0.0003	0.0003	0.0004	0.0003	0.0052	0.0003	0.0003	0.0046	0.0043	0.0052	0.0004	0	0.0004	0	0.0021	0.0001	0.0005	0.0003	0.0015	0.0019	0.0016	0.0015	0.0045	0.0014	0.0013	0.0040	0.0038	0.0045	0	0.0002	0	0.0014	0	0	8.106e-05	0	0.0003	0.377	0.11298	T	0.246	0.23984	T	0.998	0.73220	D	0.655	0.52639	P	.	.	.	.	1	0.08975	N	1.285	0.32305	L	4.8	0.01528	T	-1.08	0.28084	N	0.103	0.08646	-0.9962	0.30974	T	0.004	0.01400	T	9	0.0061048567	0.00137	T	0.00252	0.05037	T	0.080	0.23350	.	.	0.0297737177859	0.01360	0.02281908609190794	0.02233	.	.	0.191016212106	0.00243	T	0.020962	0.16408	T	-0.534179	0.00363	T	-0.706151	0.05495	T	0.0119928000018635	0.00189	T	0.471053	0.13966	T	0.026507443	0.01716	0.03882467	0.03837	0.026507443	0.01715	0.03882467	0.03837	-6.39	0.49432	T	.	.	0.077	0.06205	B	.	.	-0.426025	0.02117	0.201	0.86860659341103663	0.16823	0.00541	0.02492	N	AEFBI	.	.	.	-0.885565658441834	0.11185	0.5384241	-1.05574658164785	0.08587	0.4229556	1.03221811172246E-4	0.05123	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	3.77	0.949	0.18691	-2.567000	0.00991	-20.000000	0.00162	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6401:0.0:0.3599	5.696	0.17126	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1057.21	.	chr14	104951730	.	C	T	1057.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.81;DP=1367;ExcessHet=0;FS=27.316;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=57.93;MQRankSum=-2.23;QD=5.48;ReadPosRankSum=-4.983;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:188,0:188:99:.:.:0,120,1800:.	9	0	1	9
chr14	104951745	104951745	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G3406C:p.V1136L,AHNAK2:NM_138420:exon7:c.G3706C:p.V1236L	.	719	802	1	0	0	1	0.000623053	.	.	.	3258538	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.0037430351315	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763728740	1.509e-05	5.101e-05	1.762e-05	1.252e-05	9.266e-05	9.19e-06	7.51e-06	2.455e-05	1.28e-05	9.266e-05	4.874e-05	0	7.604e-05	0	0	8.406e-06	4.2e-05	0	5.742e-05	0.0004	3.215e-05	8.375e-05	0.0006	2.682e-05	1.831e-05	0.0002	8.893e-05	0.0001	0	0	0	0.0006	0	0	0	0	0	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.235	0.03917	N	6.0	0.00603	T	0.17	0.05125	N	0.068	0.04072	-0.9330	0.43695	T	0.001	0.00467	T	9	0.024112135	0.00652	T	0.003743	0.08682	T	0.020	0.03691	0.321	0.30064	0.0297737177859	0.01360	0.007304074053131901	0.00696	.	.	0.197014629841	0.00375	T	0.016453	0.13597	T	-0.385717	0.02866	T	-0.791832	0.02115	T	0.0109651878389543	0.00158	T	0.244176	0.03564	T	0.019949442	0.00538	0.037261385	0.03343	0.019949442	0.00537	0.037261385	0.03342	-1.982	0.03114	T	.	.	0.092	0.13737	B	.	.	-1.476418	0.00309	0.005	0.15592558760652989	0.00387	0.00376	0.01908	N	AEFBI	.	.	.	-2.29036613925226	0.00048	0.00205228	-2.39166664708917	0.00041	0.001805878	0.976985836982257	0.29777	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.23	-8.45	0.00826	-2.219000	0.01301	-20.000000	0.00162	-3.019000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1097:0.3995:0.4907	10.730	0.45292	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	329.63	5	chr14	104951745	.	C	G	329.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=1452;ExcessHet=0;FS=21.59;InbreedingCoeff=-0.0436;MLEAC=1;MLEAF=0.026;MQ=57.08;MQRankSum=-3.091;QD=1.78;ReadPosRankSum=-5.151;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:188,0:188:99:.:.:0,120,1800:.	18	0	1	0
chr14	104951747	104951747	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3404C:p.H1135P,AHNAK2:NM_138420:exon7:c.A3704C:p.H1235P	.	776	734	5	7	0	19	0.0127774	.	.	.	2807559	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.046	.	.	0.0814696	0.0021	0.0001	0	0.0001	0.0053	0.0029	0.0014	0.0023	0.0041138	636	154602	rs200111548	0.0016	0.0017	0.0016	0.0017	0.0031	0.0016	0.0016	0.0027	0.0026	0.0002	0.0002	0.0040	0.0001	0.0037	0.0024	0.0016	0.0010	0.0031	0.0015	0.0019	0.0014	0.0017	0.0035	0.0013	0.0012	0.0020	0.0019	0.0002	0	8.728e-05	0.0057	0.0008	0.0039	0	0.0024	0	0.0035	0.125	0.27310	T	0.189	0.28575	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.66	0.42513	L	5.2	0.01165	T	-1.48	0.36189	N	0.093	0.07262	-0.9534	0.40380	T	0.005	0.01688	T	9	0.002612114	0.00040	T	.	.	.	0.046	0.12618	.	.	0.0482279557977	0.04254	0.023238207525798724	0.02275	.	.	0.19338272512	0.00291	T	0.020247	0.15979	T	-0.67014	0.00055	T	-0.73319	0.04185	T	0.00639344042875613	0.00071	T	0.207779	0.02478	T	0.072987065	0.16277	0.09436399	0.22333	0.072987065	0.16277	0.09436399	0.22333	-0.28	0.00464	T	.	.	0.065	0.02038	B	.	.	-0.512059	0.01828	0.145	0.46837614528374028	0.03782	0.07256	0.13280	N	AEFBI	.	.	.	-1.47001028310493	0.02064	0.09075691	-1.51507154559753	0.02228	0.1021436	1.1683795851115E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.23	0.341	0.15229	-0.595000	0.05822	-2.676000	0.03479	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4683:0.5317	10.865	0.46054	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.002674	0.000000	0.003311	0.011236	0.000000	0.020833	0.000000	0.000000	0.05	205.3	9	chr14	104951747	.	T	G	205.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.23;DP=1510;ExcessHet=0;FS=20.48;InbreedingCoeff=0.448;MLEAC=2;MLEAF=0.1;MQ=56.98;MQRankSum=-3.529;QD=1.12;ReadPosRankSum=-4.618;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:188,0:188:99:.:.:0,120,1800:.	9	0	1	9
chr14	104951903	104951903	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3248C:p.E1083A,AHNAK2:NM_138420:exon7:c.A3548C:p.E1183A	.	433	1086	3	0	0	3	0.00137931	.	.	.	2327480	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00426994293823	0.0018	0.000998403	0.0016	0.0006	0.0022	0	0.0003	0.0022	0.0022	0.0003	0.0016171	250	154602	rs185623099	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0006	0.0026	3.828e-05	0	0.0001	0.0016	0.0031	0.0021	0.0004	0.0018	0.0018	0.0017	0.0018	0.0044	0.0016	0.0015	0.0036	0.0033	0.0008	0	0.0044	0	0	0	0	0.0024	0.0005	0.0002	0.032	0.44694	D	0.3	0.20357	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	5.8	0.00668	T	-2.05	0.47008	N	0.077	0.05162	-0.9269	0.44588	T	0.003	0.00961	T	9	0.009786129	0.00220	T	0.00427	0.10341	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.013726636648198516	0.01330	.	.	0.192866116762	0.00280	T	0.022983	0.17620	T	-0.642516	0.00080	T	-0.698128	0.05929	T	0.0139341785715103	0.00266	T	0.631037	0.24617	T	0.06197569	0.12894	0.043378204	0.05383	0.06197569	0.12894	0.043378204	0.05383	-10.21	0.75159	D	.	.	0.128	0.27433	B	.	.	0.631740	0.10002	6.755	0.42033521378464128	0.03071	0.04986	0.10758	N	AEFBI	.	.	.	-0.977875829515721	0.09077	0.4281501	-1.07131306038227	0.08269	0.4058185	9.87310034621194E-5	0.04910	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	0.191	0.14411	-0.324000	0.08029	-5.202000	0.01808	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1274:0.0895:0.3566:0.4265	2.793	0.05061	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002186	0.000000	0.001366	0.000000	0.000000	0.000000	0.003289	0.003876	0.02632	6470.33	282	chr14	104951903	.	T	G	6470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.144;DP=5871;ExcessHet=0;FS=10.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.82;MQRankSum=13.72;QD=15.3;ReadPosRankSum=0.197;SOR=0.302	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	18	0	1	0
chr14	104952240	104952240	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2911G:p.L971V,AHNAK2:NM_138420:exon7:c.C3211G:p.L1071V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0263578	0.0090	0.0298	0.0034	0.0361	0.0021	0.0017	0.0112	0.0183	0.0008732	135	154602	rs201871830	6.524e-05	0.0015	6.97e-05	6.075e-05	0.0009	5.45e-05	5.061e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	1.88e-05	0.0009	1.801e-05	0.0003	0.0001	0.0005	0.0078	0.0006	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	0.0014	0	0.0003	0	0.0025	9.535e-05	0.0074	4.485e-05	0	0.0013	0.603	0.05584	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.76	0.00695	T	-0.41	0.14000	N	0.093	0.07262	-0.8568	0.51491	T	0.001	0.00408	T	9	0.0031139255	0.00052	T	.	.	.	0.044	0.11924	0.26	0.20315	0.0297737177859	0.01360	0.0025048685426689856	0.00232	.	.	0.181649789214	0.00110	T	0.020324	0.16021	T	-0.374297	0.03383	T	-0.775428	0.02594	T	0.000253335798148228	0.00002	T	0.279272	0.04852	T	0.014677103	0.00103	0.024301512	0.00448	0.014677103	0.00103	0.024301512	0.00447	-0.714	0.00732	T	.	.	0.067	0.02370	B	.	.	-3.143251	0.00007	0.001	0.49393409051630993	0.04202	0.00122	0.00764	N	AEFDBI	.	.	.	-3.54864545972126	0.00000	3.202762e-06	-3.59441405111093	0.00000	3.736556e-06	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.74	-7.47	0.01221	-4.250000	0.00303	-20.000000	0.00162	-12.057000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1326:0.4562:0.1897:0.2215	4.564	0.11571	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	677.83	91	chr14	104952240	.	G	C	677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.626;DP=2677;ExcessHet=0.119;FS=115.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.96;MQRankSum=-10.65;QD=2.11;ReadPosRankSum=-5.015;SOR=5.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	17	0	2	0
chr14	104952746	104952746	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2405T:p.P802L,AHNAK2:NM_138420:exon7:c.C2705T:p.P902L	.	415	1105	2	0	0	2	0.000904159	.	.	.	2369192	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0119620190942	.	0.000599042	0.0003	0.0003	0.0002	0.0001	0.0003	0.0004	0	0.0002	0.0002587	40	154602	rs200145279	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0.0003	0.0002	0	0.0001	0.0008	0.0005	0.0002	0.0002	0.0002	0.0004	0.0005	0.0005	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0003	0	0.0002	0	0.0004	0.0011	0	0.0004	0.0005	0.0002	0.369	0.11586	T	0.008	0.67890	D	0.089	0.25085	B	0.058	0.26451	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	3.4	0.05642	T	-3.29	0.65742	D	0.058	0.02964	-0.9068	0.47238	T	0.022	0.09421	T	9	0.028050005	0.00942	T	0.011962	0.30096	T	0.075	0.21907	.	.	0.0986583533028	0.09354	0.021936803455912708	0.02145	.	.	0.20126979053	0.00495	T	0.069255	0.33663	T	-0.541251	0.00329	T	-0.709269	0.05333	T	0.047794762527105	0.05106	T	0.511449	0.16356	T	0.02454578	0.01297	0.052865185	0.08793	0.02454578	0.01297	0.052865185	0.08792	-6.3	0.48722	T	.	.	0.090	0.12560	B	.	.	0.894037	0.12679	9.200	0.79011461391530502	0.12551	0.05099	0.10899	N	AEFBI	.	.	.	-1.14304781612507	0.05895	0.2699646	-1.28166048940273	0.04678	0.2212375	1.69270977658492E-4	0.05721	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.95	-1.82	0.07433	1.141000	0.31140	-0.233000	0.10659	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.3807:0.0:0.497:0.1224	5.488	0.16051	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001104	0.000000	0.000000	0.000000	0.000000	0.000000	0.006803	0.000000	0.02632	6887.33	91	chr14	104952746	.	G	A	6887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.69;DP=2942;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-11.55;QD=18.42;ReadPosRankSum=1.43;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr14	104952753	104952753	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A2398G:p.K800E,AHNAK2:NM_138420:exon7:c.A2698G:p.K900E	.	416	1105	1	0	0	1	0.000452284	.	.	.	2807594	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00449258297345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182246230	6.843e-06	6.841e-06	5.447e-06	8.253e-06	0.0002	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	0	4.971e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.087	0.40747	T	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	1	0.08975	N	1.23	0.30720	L	5.87	0.00635	T	-1.07	0.27876	N	0.116	0.10483	-0.9866	0.33445	T	0.004	0.01435	T	9	0.1456843	0.27631	T	0.004493	0.11031	T	0.031	0.07369	0.316	0.29258	0.0846915920261	0.08053	0.007429087503989813	0.00708	.	.	0.262598931789	0.05203	T	0.088592	0.38191	T	-0.292576	0.09378	T	-0.658041	0.08400	T	0.0955482738901803	0.11861	T	0.388161	0.09588	T	0.102806576	0.24296	0.044260852	0.05693	0.102806576	0.24296	0.044260852	0.05693	-7.497	0.57589	T	.	.	0.166	0.36594	B	.	.	1.289996	0.16905	12.84	0.92724370835146619	0.22223	0.01653	0.05307	N	AEFBI	.	.	.	-0.60566195533054	0.18773	0.9773562	-0.824241288838492	0.13908	0.7240319	1.18543136882902E-4	0.05269	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.63	-0.567	0.11175	-1.595000	0.02196	-7.542000	0.01135	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0932:0.3957:0.5112	6.935	0.23642	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	6872.33	91	chr14	104952753	.	T	C	6872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.091;DP=2948;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.77;MQRankSum=-11.69;QD=18.42;ReadPosRankSum=1.2;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D,AHNAK2:NM_138420:exon7:c.G2475T:p.E825D	.	425	1066	31	0	0	31	0.0143319	.	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016578	0.031250	0.019022	0.020661	0.000000	0.017241	0.009494	0.007692	0.05263	406.83	91	chr14	104952976	.	C	A	406.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.899;DP=3111;ExcessHet=0.119;FS=1.703;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-19.53;QD=0.31;ReadPosRankSum=2.55;SOR=0.731	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	17	0	2	0
chr14	104953122	104953122	-	GGGGCCCCTGACTTCCACCTG	exonic	AHNAK2	.	nonframeshift insertion	AHNAK2:NM_001350929:exon7:c.2028_2029insCAGGTGGAAGTCAGGGGCCCC:p.P676_K677insQVEVRGP,AHNAK2:NM_138420:exon7:c.2328_2329insCAGGTGGAAGTCAGGGGCCCC:p.P776_K777insQVEVRGP	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.791e-06	1.231e-05	5.448e-06	4.127e-06	8.991e-05	1.99e-06	1.28e-06	2.382e-05	1.26e-05	8.991e-05	0	0	7.578e-05	0	0	0	1.657e-05	0	1.992e-05	0.0003	2.598e-05	1.358e-05	7.373e-05	5.3e-06	2.47e-06	1.955e-05	1.042e-05	7.373e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	855.29	91	chr14	104953122	.	T	TGGGGCCCCTGACTTCCACCTG	855.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=1954;ExcessHet=0;FS=16.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=0.025;QD=4.53;ReadPosRankSum=-8.478;SOR=1.719	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.05263	5125.83	91	chr14	104953797	.	C	T	5125.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.09;DP=1762;ExcessHet=0.119;FS=1.733;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.913;SOR=0.833	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	17	0	2	0
chr14	104986619	104986619	C	G	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_001364170:exon1:c.C188G:p.T63S,CLBA1:NM_174891:exon1:c.C188G:p.T63S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00223089488347	0.0020	0.000798722	0.0017	0.0002	0.0009	0	0.0003	0.0025	0	0.0015	0.0017594	272	154602	rs184621696	0.0024	0.0024	0.0023	0.0024	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0011	0.0001	2.519e-05	0.0003	0.0002	0.0028	0.0021	0.0013	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0027	0.0026	0.0004	0.0044	0.0010	0	0	0	0	0.0031	0.0009	0.0010	0.432	0.09486	T	0.404	0.14818	T	0.025	0.19245	B	0.015	0.17295	B	0.010490	0.01277	U	3.503000	1	0.08975	N	.	.	.	.	.	.	-0.75	0.21003	N	0.091	0.06990	-1.0379	0.17954	T	0.083	0.32700	T	9	0.003927797	0.00075	T	0.002231	0.04233	T	0.060	0.17295	0.11	0.02049	0.0138822411134	0.00435	0.09633637327082972	0.09565	0.120216512759	0.13538	.	.	.	0.021385	0.16665	T	-0.654471	0.00068	T	-0.717494	0.04917	T	0.00367569826498308	0.00039	T	0.335566	0.07155	T	0.07743371	0.17576	0.047421694	0.06826	0.07743371	0.17576	0.047421694	0.06826	-2.418	0.05244	T	.	.	0.097	0.15609	B	.	.	-0.010750	0.04210	1.028	0.47047833155188351	0.03816	0.04646	0.10316	N	AEFDGBCI	0.037596	0.05193	N	-0.884501285595539	0.11211	0.5397797	-0.926693178797509	0.11465	0.584254	0.999989832865708	0.51787	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.627883	0.49187	0	.	.	3.53	1.45	0.21708	0.061000	0.14242	0.223000	0.16097	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2365:0.5326:0.2308:0.0	5.043	0.13806	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3590.33	34	chr14	104986619	.	C	G	3590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=963;ExcessHet=0;FS=2.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.359;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	18	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1114.33	40	chr14	104994748	.	G	A	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.86;SOR=0.682	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1308	18	0	1	0
chr14	105143063	105143063	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon25:c.C3235T:p.R1079W,JAG2:NM_002226:exon26:c.C3349T:p.R1117W	.	411	1065	44	2	0	48	0.0220386	.	.	.	702786	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.400	0.550986740197	0.0060	0.00279553	0.0067	0.0011	0.0034	0	0.0039	0.0094	0.0064	0.0063	0.0062742	970	154602	rs34728766	0.0080	0.0079	0.0080	0.0080	0.0094	0.0079	0.0078	0.0086	0.0085	0.0015	0.0042	0.0114	5.04e-05	0.0054	0.0094	0.0087	0.0071	0.0069	0.0059	0.0059	0.0060	0.0057	0.0089	0.0056	0.0054	0.0083	0.0081	0.0013	0.0264	0.0058	0.0115	0	0.0038	0.0205	0.0089	0.0043	0.0058	0.028	0.56456	D	0.021	0.58089	D	0.999	0.77913	D	0.846	0.63913	P	0.271362	0.15121	N	0.648787	0.812943	0.34667	D	2.555	0.74557	M	-2.19	0.86815	D	-4.24	0.76576	D	0.313	0.35938	0.365	0.88568	D	0.590	0.85329	D	10	0.0067113936	0.00152	T	0.550987	0.95860	D	0.400	0.71401	.	.	0.745179119767	0.74288	0.5502876314655247	0.54954	0.714357934396	0.61881	0.666381239891	0.62321	T	0.839	0.96231	D	-0.241819	0.15119	T	-0.110737	0.62553	T	0.0422880266963858	0.04108	T	0.952805	0.83579	D	0.14168425	0.32638	0.1480713	0.35016	0.14168425	0.32637	0.1480713	0.35015	-14.034	0.93583	D	.	.	0.096	0.29724	B	.;.	.;.	5.370889	0.90040	31	0.99901152410059391	0.97275	0.89593	0.50157	D	AEFBI	0.387197	0.46727	N	0.451848610930217	0.64307	4.682385	0.404861936367212	0.61868	4.392977	0.612575134971493	0.21817	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	2.345000	0.43675	7.301000	0.58090	0.618000	0.50648	0.586000	0.27634	1.000000	0.68203	0.986000	0.61781	0.1003:0.0:0.8997:0.0	9.287	0.36925	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.008174	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	1728.33	33	chr14	105143063	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=875;ExcessHet=0;FS=2.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.451;SOR=0.916	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr14	105176646	105176646	C	T	exonic	NUDT14	.	nonsynonymous SNV	NUDT14:NM_001318380:exon4:c.G316A:p.G106S,NUDT14:NM_177533:exon4:c.G316A:p.G106S	.	.	.	.	.	.	.	.	.	.	.	3355869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.879	0.429108623561	0.0006	.	0.0005	0	0.0002	0	0	0.0008	0.0023	0	0.0004851	75	154602	rs138979378	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	8.961e-05	0.0002	0.0081	2.519e-05	0	0	0.0004	0.0011	0	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	7.218e-05	0	0.0005	0.0089	0	0	0	0.0004	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-3.74	0.95493	D	-5.8	0.88148	D	0.743	0.74280	1.045	0.98012	D	0.942	0.98085	D	10	0.09048328	0.15765	T	0.429109	0.93946	D	0.879	0.96428	.	.	0.976813957553	0.97655	0.8634717334231793	0.86311	0.406224518913	0.41498	0.671604752541	0.63066	T	0.61609	0.87901	D	0.253149	0.78895	D	0.484436	0.94291	D	0.336647778749466	0.26490	T	0.918508	0.70719	D	0.88190037	0.89824	0.78535765	0.87358	0.88190037	0.89825	0.78535765	0.87358	-13.639	0.91825	D	.	.	0.410	0.60150	A	.	.	5.406379	0.90513	31	0.99873581013991841	0.95076	0.94539	0.61494	D	AEFDBCI	0.794668	0.72230	D	0.696831554682924	0.79423	7.074814	0.494703795601151	0.67638	5.110967	0.999999999999882	0.74766	0.50712	0.20391	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635259	0.50027	0	.	.	3.62	3.62	0.40616	3.923000	0.56182	5.269000	0.48146	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	11.085	0.47304	958	0.09170	NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	34	chr14	105176646	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=808;ExcessHet=0;FS=5.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.311;SOR=0.519	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr14	105219298	105219298	G	A	exonic	BRF1	.	nonsynonymous SNV	BRF1:NM_001242786:exon13:c.C1033T:p.R345C	Cerebellofaciodental syndrome, Autosomal recessive	.	.	.	.	.	.	.	0	0.018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	.	0.000399361	4.678e-05	0.0001	0	0	0	5.053e-05	0.0013	0	5.82e-05	9	154602	rs587686408	4.301e-05	4.857e-05	4.669e-05	3.924e-05	0.0004	3.424e-05	3.108e-05	6.303e-05	3.534e-05	3.023e-05	0	0	0	0	0.0004	5.009e-05	3.365e-05	2.339e-05	6.563e-05	6.561e-05	5.138e-05	8.052e-05	0.0002	3.513e-05	2.613e-05	1.972e-05	1.124e-05	7.213e-05	0	6.534e-05	0	0.0002	0	0	5.879e-05	0.0005	0	0.044	0.41096	D	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.11	0.08653	N	0.195	0.21449	-1.0247	0.22181	T	0.033	0.14334	T	7	0.025126696	0.00717	T	0.002945	0.06250	T	0.062	0.17934	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.528089	0.00394	T	-0.759671	0.03125	T	0.0111255795852281	0.00162	T	0.371663	0.08799	T	.	.	.	.	.	.	.	.	-3.998	0.23774	T	.	.	0.142	0.31151	B	.	.	-0.001499	0.04273	1.065	0.98244658251973715	0.39512	0.00277	0.01499	N	AEFBI	0.046703	0.07786	N	-1.62331855751688	0.01153	0.05008329	-1.72726384173151	0.01022	0.04582787	0.988963465516191	0.31682	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	2.01	-4.03	0.03752	-0.563000	0.06034	.	.	-0.194000	0.09177	0.000000	0.06391	.	.	0.000000	0.00833	0.2035:0.0:0.5111:0.2854	4.424	0.10920	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1962.83	33	chr14	105219298	.	G	A	1962.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.184;DP=736;ExcessHet=0.119;FS=8.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.652;SOR=0.255	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	17	0	2	0
chr14	105250268	105250268	C	T	exonic	BTBD6	.	nonsynonymous SNV	BTBD6:NM_033271:exon5:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.118607433958	7.7e-05	.	8.403e-06	0	0	0	0	1.537e-05	0	0	6.5e-06	1	154602	rs142466787	6.846e-07	6.84e-07	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.50132	D	0.008	0.83351	D	1.0	0.90584	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.77	0.80896	M	-0.91	0.75325	T	-4.57	0.78721	D	0.873	0.89465	0.098	0.84129	D	0.547	0.83360	D	10	0.8539319	0.84582	D	0.118607	0.79869	D	0.748	0.91328	.	.	0.89582373048	0.89479	0.6575853901222518	0.65695	1.23666736194	0.81490	0.873809456825	0.93109	D	0.351157	0.71877	T	0.334026	0.85433	D	0.242029	0.85242	D	0.989055395126343	0.79317	D	0.992576	0.97608	D	0.38737342	0.59845	0.26527688	0.52359	0.38737342	0.59845	0.26527688	0.52358	-14.467	0.94740	D	.	.	0.978	0.90793	P	.;.;.;.;.	.;.;.;.;.	4.795113	0.77860	26.8	0.99905863321029054	0.97651	0.85830	0.45008	D	AEFDGBI	0.732171	0.67902	D	0.521541794590803	0.68366	5.207135	0.435983312864343	0.63822	4.623749	0.999991423459851	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.03	2.93	0.33092	2.183000	0.42195	3.075000	0.36216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5782:0.4218:0.0:0.0	10.068	0.41488	964	0.07719	PHR;PHR;PHR;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2010.33	42	chr14	105250268	.	C	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=849;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.42;SOR=0.649	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr14	105250517	105250517	G	A	exonic	BTBD6	.	nonsynonymous SNV	BTBD6:NM_033271:exon5:c.G1303A:p.V435I	.	420	1067	35	0	0	35	0.0161365	.	.	.	2817156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0172485145228	0.0022	0.00159744	0.0031	0.0007	0.0009	0	0.0021	0.0030	0.0022	0.0087	0.0029366	454	154602	rs146426875	0.0035	0.0035	0.0033	0.0037	0.0114	0.0034	0.0034	0.0092	0.0088	0.0004	0.0008	0.0034	0	0.0025	0.0114	0.0033	0.0047	0.0096	0.0026	0.0026	0.0027	0.0026	0.0091	0.0024	0.0023	0.0070	0.0062	0.0005	0.0482	0.0008	0.0032	0	0.0026	0.0034	0.0035	0.0024	0.0091	0.858	0.02684	T	1.0	0.01155	T	0.018	0.17786	B	0.02	0.19048	B	0.000047	0.53742	D	0.122234	1	0.81001	D	-0.51	0.02586	N	-0.78	0.73631	T	-0.16	0.09460	N	0.112	0.09914	-1.0398	0.17374	T	0.124	0.42673	T	9	0.011156023	0.00245	T	0.017249	0.38871	T	0.133	0.36157	.	.	0.675984337256	0.67323	0.05744030676576707	0.05685	0.33086531146	0.35168	0.515007555485	0.40924	T	0.030788	0.21743	T	-0.475625	0.00785	T	-0.455987	0.27037	T	0.0229708621100262	0.01020	T	0.947205	0.79675	D	0.046643343	0.07841	0.04550189	0.06137	0.046643343	0.07840	0.04550189	0.06136	-7.861	0.60119	D	.	.	0.06	0.01645	B	.;.;.;.	.;.;.;.	3.296711	0.45235	22.1	0.82675504458545779	0.14316	0.88191	0.48010	D	AEFDGBI	0.449015	0.50400	N	-0.465347205899416	0.23222	1.245561	-0.298541937388865	0.28146	1.567054	0.999998971209955	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.16	3.06	0.34374	4.611000	0.60867	5.057000	0.47051	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.3872:0.0:0.6128:0.0	4.734	0.12359	964	0.07719	PHR;PHR;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.011364	0.02632	2982.33	42	chr14	105250517	.	G	A	2982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=900;ExcessHet=0;FS=2.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=2.09;SOR=0.864	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr14	105392681	105392681	C	T	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001243127:exon22:c.C2048T:p.A683V,PACS2:NM_015197:exon22:c.C2273T:p.A758V,PACS2:NM_001100913:exon23:c.C2318T:p.A773V	.	427	1079	15	1	0	17	0.00781609	.	.	.	1157188	PACS2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0113838267332	.	0.000199681	0.0011	0.0003	0.0002	0	0	0.0001	0.0013	0.0070	0.0007827	121	154602	rs587631980	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	2.988e-05	8.957e-05	0	0	0	0.0031	9.174e-05	0.0005	0.0058	0.0002	0.0002	7.71e-05	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0056	0.31	0.16251	T	0.575	0.13953	T	0.011	0.15914	B	0.003	0.13708	B	0.011582	0.29474	N	0.349478	0.999999	0.20970	N	-0.345	0.03330	N	0.94	0.43672	T	-1.58	0.38151	N	0.175	0.18784	-1.0545	0.13172	T	0.050	0.21417	T	10	0.004993379	0.00107	T	0.011384	0.28946	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.11558417568226456	0.11486	.	.	0.376492708921	0.21758	T	0.092632	0.39045	T	-0.627114	0.00100	T	-0.671248	0.07528	T	0.0351481681706273	0.02834	T	0.288071	0.05188	T	0.028653009	0.02235	0.043809496	0.05536	0.028653009	0.02234	0.043809496	0.05536	-5.529	0.42361	T	0.13492756935295075	0.14620	0.068	0.03515	B	.;.;.;.	.;.;.;.	1.248524	0.16447	12.55	0.98758479898116158	0.45770	0.06551	0.12564	N	AEFBI	0.080184	0.16208	N	-0.9206171464811	0.10360	0.4947208	-0.899932978305083	0.12096	0.620213	0.999924828087517	0.46280	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.0	1.67	0.23149	0.912000	0.28220	1.394000	0.26140	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.024000	0.12247	0.0:0.6322:0.0:0.3678	6.193	0.19750	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001362	0.000000	0.050000	0.000000	0.006098	0.007576	0.02632	1057.33	33	chr14	105392681	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=715;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.404;SOR=0.528	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	18	0	1	0
chr14	105411717	105411717	C	T	exonic	TEX22	.	nonsynonymous SNV	TEX22:NM_001195082:exon4:c.C337T:p.L113F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0465114263012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.273e-07	1.368e-06	0	1.474e-06	9.308e-07	0	0	.	.	0	0	0	0	0	0	9.308e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.404	0.14818	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.82	0.22508	N	0.054	0.02559	-1.0271	0.21396	T	0.029	0.12409	T	8	0.02892822	0.01022	T	0.046511	0.62494	D	0.149	0.39377	0.231	0.15855	0.0138822411134	0.00435	0.002349448647716089	0.00217	.	.	0.499840497971	0.38805	T	0.005289	0.04740	T	-0.346614	0.04943	T	-0.735663	0.04075	T	0.0821454892291156	0.10259	T	0.290971	0.05319	T	0.048224535	0.08370	0.048941053	0.07375	0.048224535	0.08369	0.048941053	0.07375	-4.78	0.34357	T	.	.	0.061	0.01179	B	.	.	0.228287	0.06097	2.543	0.89764703519514044	0.19081	0.00748	0.03114	N	AEFDGBCI	0.019903	0.00734	N	-1.84748061096877	0.00439	0.01888723	-1.92333178462986	0.00440	0.01946408	0.999999999104378	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.618803	0.45993	0	.	.	2.67	-5.35	0.02488	-0.265000	0.08671	-0.551000	0.08528	-1.006000	0.01785	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3536:0.4618:0.0:0.1846	4.395	0.10789	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1574.33	36	chr14	105411717	.	C	T	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.894;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=3.19;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	18	0	1	0
chr14	105498701	105498703	CAG	-	exonic	TEDC1	.	nonframeshift deletion	TEDC1:NM_001134876:exon7:c.937_939del:p.Q314del,TEDC1:NM_001134875:exon8:c.1036_1038del:p.Q347del,TEDC1:NM_001134877:exon8:c.814_816del:p.Q273del,TEDC1:NM_001198983:exon8:c.820_822del:p.Q275del,TEDC1:NM_001367178:exon9:c.1243_1245del:p.Q416del	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0020	0.0005	0	0	0	0.0001	0.0054	0.0046	0.0003074	8	26028	rs1166042634	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0039	3.139e-05	5.562e-05	0	0	0	0.0004	0.0002	0.0004	0.0045	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.811e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001561	0.000000	0.000000	0.003106	0.000000	0.000000	0.000000	0.003846	0.02632	1529.29	36	chr14	105498700	.	ACAG	A	1529.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=731;ExcessHet=0;FS=5.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.184;SOR=1.309	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	18	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,38:77:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1291,0,1441:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	11	0	8	0
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	434.18	45	chr15	20534664	.	CT	C	434.18	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=1;MLEAF=0.028;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:15,0:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,1485,2693:20534604	17	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	14	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C	434.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=1;MLEAF=0.029;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:15,0:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,1485,2693:20534604	16	0	1	2
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	3	0	14	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	327.06	45	chr15	20534693	.	T	C	327.06	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=1;MLEAF=0.026;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:15,0:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,1485,2693:20534604	18	0	1	0
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,38:61:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:1346,0,1052:20534604	4	0	15	0
chr15	20534804	20534805	CC	-	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.1629_1630del:p.D544*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.514e-05	2.319e-05	3.123e-05	1.916e-05	3.286e-05	1.749e-05	1.486e-05	2.255e-05	1.905e-05	0	0	0	0	0	0	3.286e-05	2.214e-05	0	1.672e-05	1.379e-05	0	3.419e-05	0.0002	2.78e-06	1.04e-06	3.025e-05	1.255e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	349.32	17	chr15	20534803	.	TCC	T	349.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.332;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.026;MQ=44.34;MQRankSum=0.963;QD=24.95;ReadPosRankSum=0.453;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1272:.	18	0	1	0
chr15	20534807	20534825	CCTGCTCCTGCCTCTTCTC	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1609_1627del:p.E537Rfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.016e-05	2.309e-05	2.518e-05	1.523e-05	2.606e-05	1.296e-05	1.099e-05	1.701e-05	1.383e-05	0	0	0	0	0	0	2.606e-05	2.206e-05	0	1.668e-05	1.374e-05	0	3.418e-05	0.0002	2.77e-06	1.04e-06	3.016e-05	1.251e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	340.33	16	chr15	20534806	.	TCCTGCTCCTGCCTCTTCTC	T	340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.968;DP=380;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0293;MLEAC=1;MLEAF=0.026;MQ=48.26;MQRankSum=-0.385;QD=20.02;ReadPosRankSum=0.453;SOR=1.426	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1272:.	18	0	1	0
chr15	20535305	20535305	G	A	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.C1129T:p.Q377X	.	544	975	3	0	0	3	0.0015361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0141	0.0132	0	0	.	0.0190	0	0	0.0002264	35	154602	rs28665153	0.0116	0.0086	0.0119	0.0114	0.0276	0.0114	0.0113	0.0260	0.0253	0.0028	0.0276	0.0098	6.092e-05	0.0105	0.0063	0.0126	0.0125	0.0076	0.0051	0.0052	0.0051	0.0052	0.0125	0.0048	0.0046	0.0106	0.0099	0.0014	0	0.0125	0.0042	0	0.0074	0	0.0059	0.0038	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297858	0.82796	D	0.190076	0.82574	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.266607	0.64883	24.8	0.97797846699532709	0.36046	0.16310	0.19329	N	AEFI	0.023047	0.01233	N	-0.0666653307467699	0.38862	2.282634	-0.489650941295436	0.22437	1.21871	6.47089315873219E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.058000	0.11707	-3.322000	0.02877	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	219.71	33	chr15	20535305	.	G	A	219.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.243;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=33.09;MQRankSum=-0.278;QD=7.32;ReadPosRankSum=1.11;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	1	1
chr15	20535454	20535454	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G980A:p.R327K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00302846871296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195996035	0.0003	0.0006	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0	0.0002	0.0009	0	0.0002	0.0005	0.0005	0.0003	0.0001	0.0004	0.0006	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0.0037	6.973e-05	0.0015	0	0.0002	0	0.0007	0.0005	0	.	.	.	0.768	0.04507	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	-0.9625	0.38704	T	0.007	0.02558	T	7	0.034657508	0.01682	T	0.003028	0.06517	T	.	.	.	.	0.0297737177859	0.01360	0.0047850213449657075	0.00450	.	.	0.602614462376	0.53273	T	0.00297	0.02370	T	-0.37928	0.03149	T	-0.782586	0.02376	T	0.136043397733862	0.15929	T	0.192181	0.02062	T	0.093621135	0.21994	0.14057471	0.33504	0.093621135	0.21994	0.14057471	0.33503	-6.106	0.47158	T	.	.	0.111	0.21578	B	.	.	-0.594876	0.01586	0.106	0.37947601878945797	0.02531	0.00010	0.00151	N	AEFI	0.013996	0.00206	N	-1.72392761636933	0.00760	0.03283494	-1.83088962435268	0.00665	0.02959322	6.62524692863637E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.844000	0.01772	-5.946000	0.01544	-3.196000	0.00111	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	65	chr15	20535454	.	C	T	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=983;ExcessHet=0;FS=1.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.92;MQRankSum=-1.023;QD=1.28;ReadPosRankSum=1.52;SOR=1.099	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,111,1597	18	0	1	0
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2312.79	20	chr15	20536401	.	G	C	2312.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.585;DP=823;ExcessHet=0.3672;FS=3.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.94;MQRankSum=1.57;QD=7.79;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,882	16	0	3	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.02632	920.33	39	chr15	20845872	.	T	C	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.348;DP=1429;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.75;MQRankSum=-1.28;QD=1.25;ReadPosRankSum=1.94;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1368	18	0	1	0
chr15	21410951	21410951	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon10:c.G1460A:p.G487E	.	1167	351	2	2	0	6	0.00847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00149846368984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201599781	3.94e-05	0.0049	5.465e-05	2.42e-05	0.0010	2.949e-05	2.589e-05	0.0005	0.0004	0.0010	0	6.538e-05	0	5.229e-05	0	3.139e-05	5.017e-05	1.542e-05	0.0003	0.0093	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0003	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0.0003	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.13723475	0.26107	T	0.001498	0.02318	T	.	.	.	.	0.21279746466	0.20884	0.012663733124182534	0.01225	.	.	0.758689165115	0.75735	T	0.018113	0.14658	T	-0.257661	0.13174	T	-0.607889	0.12158	T	.	.	.	0.689231	0.29860	T	0.04479156	0.07223	0.07305423	0.15832	0.04479156	0.07222	0.07305423	0.15832	-2.044	0.03351	T	.	.	0.102	0.18037	B	.	.	1.760732	0.22396	15.60	0.38208231936452719	0.02563	0.24951	0.22551	N	AEFI	0.060037	0.11384	N	.	.	.	.	.	.	1.21202139914897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.751	0.17541	3.206000	0.50800	0.673000	0.20610	0.284000	0.18682	0.994000	0.38300	0.001000	0.17328	0.003000	0.05239	0.0:0.7705:0.0:0.2295	4.253	0.10152	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	157.13	34	chr15	21410951	.	C	T	157.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.62;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=39.33;MQRankSum=-0.812;QD=13.09;ReadPosRankSum=-1.03;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1414	16	0	1	2
chr15	21439866	21439866	T	C	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.A146G:p.H49R	.	409	1111	1	0	1	2	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218844390	0.0005	0.0006	0.0004	0.0005	0.0072	0.0004	0.0004	0.0064	0.0061	0.0072	0.0016	8.036e-05	0.0009	0	0.0018	6.791e-05	0.0013	0.0017	0.0023	0.0030	0.0022	0.0023	0.0065	0.0021	0.0020	0.0058	0.0056	0.0065	0	0.0034	0	0.0008	0	0.0034	0.0002	0.0029	0.0015	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.017399222	0.00371	T	.	.	.	.	.	.	.	.	.	0.0021256968797562573	0.00196	.	.	.	.	.	0.016103	0.13376	T	.	.	.	.	.	.	.	.	.	0.632737	0.24712	T	.	.	.	.	.	.	.	.	-8.47	0.64230	D	.	.	0.074	0.05145	B	.	.	1.283925	0.16839	12.80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.415000	0.07170	-1.123000	0.06262	0.206000	0.17947	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3671.33	33	chr15	21439866	.	T	C	3671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.798;DP=2236;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.25;MQRankSum=-0.918;QD=6.43;ReadPosRankSum=0.574;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,109,1539:.	18	0	1	0
chr15	21439940	21439940	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.G72A:p.M24I	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00401263891288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	5.476e-06	2.727e-06	2.754e-06	4.476e-05	6.4e-07	4.3e-07	7.42e-06	2.78e-06	0	4.476e-05	0	0	0	0	0	3.318e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.091341615	0.15991	T	0.004013	0.09525	T	.	.	.	.	0.0846915920261	0.08053	0.0026473987493642256	0.00245	.	.	0.609600365162	0.54259	T	0.020094	0.15881	T	-0.187436	0.22636	T	-0.507015	0.21623	T	.	.	.	0.794321	0.43637	T	0.2963964	0.52580	0.3849593	0.63424	0.2963964	0.52579	0.3849593	0.63424	-7.113	0.54854	T	.	.	0.505	0.64812	A	.	.	1.181301	0.15720	12.05	0.98024265962892865	0.37658	0.00331	0.01727	N	AEFI	0.024866	0.01609	N	.	.	.	.	.	.	1.54491641097197E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.702	0.702	0.17269	0.907000	0.28154	0.912000	0.22635	0.407000	0.20612	0.105000	0.22895	0.003000	0.18671	0.045000	0.14751	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	33	chr15	21439940	.	C	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.354;DP=1232;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.58;MQRankSum=0.372;QD=3.42;ReadPosRankSum=-0.247;SOR=0.862	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2874.79	34	chr15	21652117	.	A	C	2874.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.46;DP=1143;ExcessHet=0.3672;FS=3.858;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=28.15;MQRankSum=-0.218;QD=5.23;ReadPosRankSum=-0.519;SOR=0.999	GT:AD:DP:GQ:PL	0/1:75,31:106:99:662,0,1886	16	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5203.79	34	chr15	21652190	.	C	T	5203.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.35;DP=1924;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=32.55;MQRankSum=-0.045;QD=5.5;ReadPosRankSum=0.943;SOR=0.725	GT:AD:DP:GQ:PL	0/1:159,64:223:99:1248,0,4012	16	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	8970.79	34	chr15	21652283	.	G	C	8970.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.37;DP=1793;ExcessHet=0.3672;FS=2.68;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.05;MQRankSum=-1.145;QD=10.89;ReadPosRankSum=0.157;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,66:216:99:0|1:21652283_G_C:2293,0,5982:21652283	16	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	8994.79	34	chr15	21652290	.	C	A	8994.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.745;DP=1778;ExcessHet=0.3672;FS=1.934;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.12;MQRankSum=-1.247;QD=11.08;ReadPosRankSum=0.423;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,67:218:99:0|1:21652283_G_C:2319,0,6008:21652283	16	0	3	0
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.025253	0.054348	0.067251	0.000000	0.043103	0.015244	0.007576	0.1786	1435.25	24	chr15	22080637	.	A	G	1435.25	.	AC=5;AF=0.179;AN=28;BaseQRankSum=0.507;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=0.7562;MLEAC=6;MLEAF=0.214;MQ=32.99;MQRankSum=-0.457;QD=24.75;ReadPosRankSum=0.746;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,15:15:45:540,45,0	11	2	1	5
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:1,98:99:99:3162,288,0	0	13	3	3
chr15	22563013	22563013	C	G	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169471774	8.607e-06	6.198e-05	1.125e-05	6.363e-06	8.911e-06	2.52e-06	1.83e-06	2.37e-06	6.6e-07	0	0	0	0	0	0	8.911e-06	7.023e-05	0	1.265e-05	5.947e-05	2.362e-05	0	2.453e-05	0	0	.	.	0	0	0	0	0	0	0	2.453e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	120.98	10	chr15	22563013	.	C	G	120.98	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.935;DP=332;ExcessHet=0;FS=1.739;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=33.28;MQRankSum=-0.1;QD=3.56;ReadPosRankSum=-0.313;SOR=0.319	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	17	0	1	1
chr15	22607629	22607629	C	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1810A:p.V604M	.	448	1047	27	0	0	27	0.0127298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.000205736360255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201794505	0.0074	0.0094	0.0074	0.0074	0.0123	0.0073	0.0072	0.0104	0.0102	0.0082	0.0109	0.0099	0.0047	0.0024	0.0123	0.0071	0.0079	0.0110	0.0082	0.0100	0.0085	0.0079	0.0132	0.0078	0.0077	0.0106	0.0096	0.0096	0.0266	0.0081	0.0099	0.0064	0.0019	0.0240	0.0078	0.0079	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3587.77	33	chr15	22607629	.	C	T	3587.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.2;DP=738;ExcessHet=0;FS=0.801;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=48.15;MQRankSum=-0.279;QD=24.41;ReadPosRankSum=0.343;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	17	1	1	0
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	128.88	32	chr15	22607800	.	C	G	128.88	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.029;DP=331;ExcessHet=0.3672;FS=54.82;InbreedingCoeff=-0.0879;MLEAC=3;MLEAF=0.079;MQ=27.7;MQRankSum=-2.041;QD=2.22;ReadPosRankSum=0.174;SOR=5.279	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,923	16	0	3	0
chr15	22608280	22608280	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon16:c.A1420G:p.K474E	.	181	1314	25	2	0	29	0.0109146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.000518772353122	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201889124	0.0064	0.0066	0.0055	0.0072	0.0317	0.0062	0.0062	0.0307	0.0303	0.0153	0.0059	0.0146	0.0011	0.0005	0.0110	0.0042	0.0084	0.0317	0.0085	0.0095	0.0083	0.0087	0.0383	0.0081	0.0080	0.0337	0.0319	0.0150	0	0.0050	0.0189	0.0016	0.0006	0.0174	0.0048	0.0085	0.0383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2923.79	41	chr15	22608280	.	T	C	2923.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.96;DP=878;ExcessHet=0.3672;FS=1.06;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=30.58;MQRankSum=-0.098;QD=13.35;ReadPosRankSum=-0.591;SOR=0.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,108,1620:.	16	0	3	0
chr15	22611105	22611105	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C1103T:p.A368V	.	440	1080	1	1	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00089846461035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269751259	4.303e-06	7.525e-06	4.256e-06	4.351e-06	3.163e-05	1.55e-06	1.02e-06	1.35e-06	9.8e-07	3.163e-05	0	0	0	0	0	4.593e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	606.33	46	chr15	22611105	.	G	A	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=903;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=0.635;QD=13.18;ReadPosRankSum=0.924;SOR=0.473	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr15	22613406	22613406	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon7:c.T455C:p.M152T	.	488	1031	3	0	0	3	0.00145278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.000305791545959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776013478	0.0004	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0011	0.0001	5.918e-05	0	2.995e-05	0.0004	0.0007	0.0003	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0004	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	39	chr15	22613406	.	A	G	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.303;DP=765;ExcessHet=0;FS=6.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.67;MQRankSum=0.121;QD=7.13;ReadPosRankSum=0.797;SOR=1.005	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr15	22613582	22613582	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon6:c.A367G:p.K123E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000391549554927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465477789	3.949e-06	7.102e-06	3.951e-06	3.947e-06	6.455e-05	9.2e-07	6.2e-07	1.069e-05	4e-06	0	3.955e-05	0	6.455e-05	0	0	1.282e-06	0	0	0	1.423e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.34	14	chr15	22613582	.	T	C	52.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=436;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=28.16;MQRankSum=-0.484;QD=7.48;ReadPosRankSum=-0.652;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0:12:24:.:.:0,24,360:.	18	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1,0:1:0:.:.:0,0,0:.	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.,.:.:.:.:.:.:.	8	4	2	5
chr15	22768324	22768365	CATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0055	0.0042	0.0037	0.0050	0.0036	0.0035	0.0044	0.0042	0.0027	0.0068	0.0035	0.0046	0.0007	0.0052	0	0.0050	0.0027	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	59.72	2	chr15	22768323	.	CCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	C	59.72	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.431;DP=49;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0054;MLEAC=2;MLEAF=0.071;MQ=56.71;MQRankSum=0.674;QD=14.93;ReadPosRankSum=-0.967;SOR=2.209	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	13	0	1	5
chr15	22768698	22768698	C	T	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	886	635	1	0	0	1	0.000786782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288373912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	0.0008	0	0	0.0004	0.0003	0	0	6.096e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	71.04	.	chr15	22768698	.	C	T	71.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.0171;MLEAC=1;MLEAF=0.033;MQ=52.4;MQRankSum=0.967;QD=23.68;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,92:.	14	0	1	4
chr15	22768701	22768701	C	G	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	903	618	1	0	0	1	0.000808407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228210083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0.0002	0.0004	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0.0003	0	0	2.194e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	71.22	.	chr15	22768701	.	C	G	71.22	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.967;DP=47;ExcessHet=0;FS=0;InbreedingCoeff=-0.0053;MLEAC=1;MLEAF=0.033;MQ=52.4;MQRankSum=0.967;QD=23.74;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,92:.	14	0	1	4
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	141.4	5	chr15	22769367	.	T	C	141.4	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.992;DP=118;ExcessHet=0;FS=2.808;InbreedingCoeff=0.2991;MLEAC=1;MLEAF=0.033;MQ=54.34;MQRankSum=0.751;QD=15.71;ReadPosRankSum=-0.732;SOR=1.17	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,75	14	0	1	4
chr15	22870089	22870089	G	A	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001033028:exon16:c.C2408T:p.T803M,CYFIP1:NM_001324125:exon28:c.C3335T:p.T1112M,CYFIP1:NM_001324124:exon30:c.C3611T:p.T1204M,CYFIP1:NM_001324126:exon30:c.C3599T:p.T1200M,CYFIP1:NM_001324119:exon31:c.C3803T:p.T1268M,CYFIP1:NM_001324120:exon31:c.C3701T:p.T1234M,CYFIP1:NM_001324123:exon31:c.C3701T:p.T1234M,CYFIP1:NM_014608:exon31:c.C3701T:p.T1234M,CYFIP1:NM_001287810:exon32:c.C3701T:p.T1234M,CYFIP1:NM_001324122:exon32:c.C2021T:p.T674M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0079683474455	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs778722046	1.986e-05	2.052e-05	1.771e-05	2.202e-05	0.0002	1.393e-05	1.205e-05	6.52e-05	4.455e-05	0.0001	0	0	0.0002	0	0.0002	1.44e-05	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.11769	.	.	.	.	.	.	.	0.23380727	0.40406	T	.	.	.	.	.	.	.	.	.	0.5581997793164185	0.55746	.	.	.	.	.	0.062741	0.31995	T	.	.	.	.	.	.	.	.	.	0.929307	0.73951	D	.	.	.	.	.	.	.	.	-4.341	0.30626	T	.	.	0.066	0.02285	B	.;.;.	.;.;.	3.011038	0.40265	21.1	.	.	.	.	.	.	0.728338	0.67639	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.696000	0.67947	7.478000	0.59226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	.	.	.	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1122.33	106	chr15	22870089	.	G	A	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=740;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.824;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1084	18	0	1	0
chr15	22909199	22909199	T	C	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001033028:exon6:c.A1090G:p.I364V,CYFIP1:NM_001324125:exon18:c.A2017G:p.I673V,CYFIP1:NM_001324124:exon20:c.A2293G:p.I765V,CYFIP1:NM_001324126:exon20:c.A2281G:p.I761V,CYFIP1:NM_001324119:exon21:c.A2485G:p.I829V,CYFIP1:NM_001324120:exon21:c.A2383G:p.I795V,CYFIP1:NM_001324123:exon21:c.A2383G:p.I795V,CYFIP1:NM_014608:exon21:c.A2383G:p.I795V,CYFIP1:NM_001287810:exon22:c.A2383G:p.I795V,CYFIP1:NM_001324122:exon22:c.A703G:p.I235V	.	430	1079	13	0	0	13	0.00598802	.	.	.	703082	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.137	0.0054607550772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142727980	0.0059	0.0059	0.0057	0.0061	0.0121	0.0058	0.0058	0.0115	0.0112	0.0009	0.0017	0.0009	0	0.0059	0.0049	0.0061	0.0051	0.0121	0.0038	0.0038	0.0040	0.0035	0.0099	0.0035	0.0034	0.0077	0.0069	0.0008	0	0.0037	0.0003	0	0.0036	0	0.0056	0.0057	0.0099	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.035675883	0.01827	T	.	.	.	.	.	.	.	.	.	0.928460371080354	0.92824	.	.	.	.	.	0.111272	0.42663	T	.	.	.	.	.	.	.	.	.	0.888211	0.61727	D	.	.	.	.	.	.	.	.	-4.494	0.30810	T	.	.	0.067	0.02370	B	.;.;.	.;.;.	2.261122	0.28895	17.95	.	.	.	.	.	.	0.668061	0.63597	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.393000	0.52286	0.692000	0.20773	0.665000	0.62972	1.000000	0.71638	0.465000	0.25022	0.994000	0.71098	.	.	.	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1213.33	33	chr15	22909199	.	T	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.11;DP=759;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.21;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1086	18	0	1	0
chr15	22918704	22918704	T	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324125:exon11:c.A1148C:p.N383T,CYFIP1:NM_001324124:exon13:c.A1424C:p.N475T,CYFIP1:NM_001324126:exon13:c.A1412C:p.N471T,CYFIP1:NM_001324119:exon14:c.A1616C:p.N539T,CYFIP1:NM_001324120:exon14:c.A1514C:p.N505T,CYFIP1:NM_001324123:exon14:c.A1514C:p.N505T,CYFIP1:NM_014608:exon14:c.A1514C:p.N505T,CYFIP1:NM_001287810:exon15:c.A1514C:p.N505T	.	418	1103	1	0	0	1	0.000453104	.	.	.	3420032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.00581308170436	.	.	0.0001	0	0.0013	0	0	0	0	0	9.7e-05	15	154602	rs202236334	5.794e-05	5.891e-05	5.685e-05	5.905e-05	0.0016	4.772e-05	4.389e-05	0.0008	0.0006	6.138e-05	7.372e-05	0	0	0	0.0016	5.469e-05	8.457e-05	4.897e-05	3.287e-05	3.284e-05	3.856e-05	2.692e-05	6.547e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.547e-05	0	0	0	0	5.882e-05	0	0	.	.	.	0.865	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.84505	.	.	.	.	.	.	.	0.7585194	0.76166	D	.	.	.	.	.	.	.	.	.	0.9451156385437264	0.94493	.	.	.	.	.	0.122969	0.44700	T	.	.	.	.	.	.	.	.	.	0.905509	0.66687	D	.	.	.	.	.	.	.	.	-2.857	0.08720	T	.	.	0.186	0.40164	B	.;.	.;.	3.948324	0.57820	23.9	.	.	.	.	.	.	0.935007	0.92922	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.852000	0.85247	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	609.33	41	chr15	22918704	.	T	G	609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.248;SOR=0.646	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1224	18	0	1	0
chr15	22947286	22947286	C	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324119:exon2:c.G102C:p.R34S	.	477	1033	10	2	0	14	0.00673077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0256853	3971	154602	rs139395765	0.0094	0.0094	0.0094	0.0095	0.0109	0.0093	0.0092	0.0107	0.0107	0.0015	0.0034	0.0009	5.038e-05	0.0029	0.0084	0.0109	0.0080	0.0086	0.0057	0.0057	0.0062	0.0053	0.0110	0.0054	0.0053	0.0089	0.0087	0.0016	0.0077	0.0037	0.0017	0	0.0024	0.0034	0.0095	0.0062	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3627.81	40	chr15	22947286	.	C	G	3627.81	.	AC=2;AF=0.053;AN=38;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.1;SOR=1.081	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	1	0	0
chr15	23005548	23005548	C	A	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354372:exon19:c.G2599T:p.V867F,TUBGCP5:NM_001354373:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354374:exon19:c.G2554T:p.V852F,TUBGCP5:NM_001354375:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354376:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354377:exon19:c.G2599T:p.V867F,TUBGCP5:NM_001354378:exon19:c.G2599T:p.V867F,TUBGCP5:NM_052903:exon19:c.G2596T:p.V866F	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00393600373392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199994530	8.551e-05	8.551e-05	7.487e-05	9.625e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0002	0.0002	4.472e-05	0.0002	0	0	0.0009	7.914e-05	6.623e-05	0.0002	6.573e-05	6.567e-05	6.425e-05	6.727e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.041	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21580	.	.	.	.	.	.	.	0.08687106	0.14808	T	.	.	.	.	.	.	.	.	.	0.6988809629853047	0.69829	.	.	.	.	.	0.02034	0.16033	T	.	.	.	.	.	.	.	.	.	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.405	0.29625	T	.	.	0.074	0.04889	B	.;.	.;.	-0.437033	0.02079	0.192	.	.	.	.	.	.	0.062001	0.11892	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.393000	0.07366	-0.490000	0.08866	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1665.33	33	chr15	23005548	.	C	A	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.903;DP=814;ExcessHet=0;FS=2.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.005;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1418	18	0	1	0
chr15	23129753	23129753	C	T	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.G1700A:p.R567Q,GOLGA6L22:NM_001271664:exon9:c.G1670A:p.R557Q,LOC102723623:NM_001382446:exon9:c.G1628A:p.R543Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00344050140799	.	.	0.0002	0	0	0	0	0	0	0.0003	.	.	.	rs769563547	3.032e-05	4.069e-05	3.823e-05	2.341e-05	0.0003	1.846e-05	1.509e-05	0.0001	9.183e-05	0.0001	3.334e-05	5.712e-05	0.0003	0	0	1.699e-05	0	0	0	1.471e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.266	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.056501985	0.06342	T	0.003441	0.07755	T	.	.	.	.	0.0401082797425	0.02173	0.008782477228974819	0.00842	.	.	.	.	.	.	.	.	-0.322113	0.06726	T	-0.70047	0.05800	T	.	.	.	0.060394	0.00440	T	0.051290587	0.09397	0.08271042	0.18898	0.051290587	0.09396	0.08271042	0.18898	-5.29	0.39844	T	.	.	0.105	0.19438	B	.	.	1.111746	0.14971	11.48	0.44780284017874322	0.03467	0.00266	0.01451	N	AEFI	0.029447	0.02780	N	.	.	.	.	.	.	1.10942770519523E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.161000	0.10014	-9.404000	0.00825	0.245000	0.18292	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	169.77	29	chr15	23129753	.	C	T	169.77	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.07;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0314;MLEAC=1;MLEAF=0.028;MQ=44.61;MQRankSum=2.13;QD=5.85;ReadPosRankSum=-0.459;SOR=0.399	GT:AD:DP:GQ:PL	0/0:32,0:32:87:0,87,1305	17	0	1	1
chr15	23129831	23129831	T	G	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.A1622C:p.E541A,GOLGA6L22:NM_001271664:exon9:c.A1592C:p.E531A,LOC102723623:NM_001382446:exon9:c.A1550C:p.E517A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029361449526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.14436644	0.27398	T	0.002936	0.06221	T	.	.	.	.	0.0297737177859	0.01360	0.01466188268273963	0.01423	.	.	.	.	.	.	.	.	-0.354925	0.04426	T	-0.747601	0.03580	T	.	.	.	0.324568	0.06628	T	0.039640725	0.05511	0.11224848	0.27083	0.039640725	0.05511	0.11224848	0.27082	-9.184	0.68874	D	.	.	0.224	0.45495	B	.	.	0.957911	0.13342	9.847	0.29932324496044571	0.01612	0.00236	0.01316	N	AEFI	0.021535	0.00969	N	.	.	.	.	.	.	1.10566401661356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.866000	0.27608	-0.173000	0.11207	-1.087000	0.01546	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	98.33	115	chr15	23129831	.	T	G	98.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.542;DP=1024;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.69;MQRankSum=0.894;QD=0.86;ReadPosRankSum=0.358;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1233	18	0	1	0
chr15	23129992	23129994	CTG	-	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonframeshift deletion	GOLGA6L1:NM_001001413:exon8:c.1459_1461del:p.Q487_M657delinsEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,GOLGA6L22:NM_001271664:exon9:c.1429_1431del:p.E478_E657delinsIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,LOC102723623:NM_001382446:exon9:c.1387_1389del:p.Q463_E645delinsEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	612	902	8	0	0	8	0.00441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.499e-05	0.0001	1.77e-05	5.003e-05	3.979e-05	2.13e-05	1.741e-05	1.996e-05	1.559e-05	0	0	0	3.756e-05	3.384e-05	0	3.724e-05	7.768e-05	3.979e-05	2.009e-05	0.0003	3.873e-05	0	4.113e-05	0	0	.	.	0	0	0	0	0	0	0	4.113e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.5	34	chr15	23129991	.	CCTG	C	69.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.931;DP=295;ExcessHet=0;FS=7.27;InbreedingCoeff=-0.0011;MLEAC=1;MLEAF=0.026;MQ=38.35;MQRankSum=0.082;QD=4.34;ReadPosRankSum=-1.461;SOR=0.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:62:.:.:0,62,945:.	18	0	1	0
chr15	23129998	23129998	G	C	exonic	GOLGA6L1;GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L1:NM_001001413:exon8:c.C1455G:p.H485Q,GOLGA6L22:NM_001271664:exon9:c.C1425G:p.H475Q,LOC102723623:NM_001382446:exon9:c.C1383G:p.H461Q	.	645	870	7	0	0	7	0.00400687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00308846918181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.628e-05	0.0001	2.341e-05	2.88e-05	4.248e-05	1.5e-05	1.106e-05	1.338e-05	9.94e-06	0	4.248e-05	0	4.032e-05	0	0	2.88e-05	4.088e-05	2.143e-05	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.596	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	0.073369235	0.11077	T	0.003088	0.06696	T	.	.	.	.	0.0138822411134	0.00435	0.0025308682557357116	0.00235	.	.	.	.	.	.	.	.	-0.373979	0.03398	T	-0.774971	0.02608	T	.	.	.	0.248475	0.03691	T	0.062411726	0.13033	0.087376066	0.20305	0.062411726	0.13032	0.087376066	0.20304	-2.507	0.05829	T	.	.	0.128	0.27192	B	.	.	-0.827003	0.01055	0.045	0.27594129762390335	0.01377	0.00018	0.00208	N	AEFI	0.013016	0.00159	N	.	.	.	.	.	.	2.92593916896186E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.149	-0.298	0.12179	-2.112000	0.01419	-1.104000	0.06319	-2.496000	0.00265	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	38.33	31	chr15	23129998	.	G	C	38.33	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.03;DP=283;ExcessHet=0;FS=0;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.029;MQ=39.13;MQRankSum=0.934;QD=2.95;ReadPosRankSum=-2.075;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:47:.:.:0,47,821:.	16	0	1	2
chr15	23136599	23136599	-	GTGGGGATGGGTAGGGAC	exonic	GOLGA6L1;LOC102723623	.	nonframeshift insertion	GOLGA6L1:NM_001001413:exon1:c.132_133insGTCCCTACCCATCCCCAC:p.L45_M657delinsVPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCHSPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELYRNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEKIQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWRQEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*,LOC102723623:NM_001382446:exon2:c.60_61insGTCCCTACCCATCCCCAC:p.L21_E645delinsVPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCHSPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELYRNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEKIQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWRQEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKIREQEEKIREQEEKIREQEEKIREQEEMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.397e-05	8.859e-06	0	0.0001	.	0	0	.	.	0	0	0	0	0	0.0009	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	252.66	18	chr15	23136599	.	G	GGTGGGGATGGGTAGGGAC	252.66	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.318;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=0.1848;MLEAC=1;MLEAF=0.031;MQ=46.6;MQRankSum=-0.934;QD=5.05;ReadPosRankSum=-0.162;SOR=0.549	GT:AD:DP:GQ:PL	0/1:32,18:50:99:265,0,721	15	0	1	3
chr15	23327336	23327336	-	C	exonic	LOC102723623	.	frameshift insertion	LOC102723623:NM_001382446:exon8:c.1530dupG:p.Q511Afs*97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.998e-05	0.0010	0.0001	5.968e-05	0.0001	6.464e-05	5.934e-05	6.624e-05	5.932e-05	5.072e-05	0.0001	4.949e-05	0	8.361e-05	0	8.46e-05	9.905e-05	6.178e-05	7.077e-05	0.0013	9.121e-05	4.887e-05	0.0001	3.038e-05	2.066e-05	4.754e-05	3.063e-05	0	0	0	0	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.55	16	chr15	23327336	.	G	GC	32.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.915;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=0.0018;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.17;ReadPosRankSum=1.46;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,62:.	16	0	1	2
chr15	23327340	23327340	-	A	exonic	LOC102723623	.	frameshift insertion	LOC102723623:NM_001382446:exon8:c.1526_1527insT:p.E510Gfs*98	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	0.0010	0.0001	4.947e-05	0.0001	6.133e-05	5.637e-05	6.274e-05	5.67e-05	5.324e-05	0.0001	5.044e-05	2.96e-05	8.515e-05	0	8.12e-05	7.578e-05	4.71e-05	8.384e-05	0.0014	6.962e-05	9.9e-05	0.0001	3.876e-05	2.733e-05	4.788e-05	3.086e-05	5.283e-05	0	0	0	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.55	16	chr15	23327340	.	C	CA	32.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.506;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.0018;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.17;ReadPosRankSum=0.936;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,52:.	16	0	1	2
chr15	23327342	23327343	GT	-	exonic	LOC102723623	.	frameshift deletion	LOC102723623:NM_001382446:exon8:c.1524_1525del:p.I508Mfs*99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.781e-05	0.0010	0.0001	7.022e-05	0.0002	7.19e-05	6.564e-05	7.304e-05	6.021e-05	5.344e-05	0.0002	5.1e-05	2.967e-05	8.65e-05	0	8.517e-05	7.641e-05	0.0001	7.075e-05	0.0013	6.849e-05	7.316e-05	9.675e-05	3.037e-05	2.065e-05	3.255e-05	1.918e-05	5.119e-05	0	0	0	0	0.0002	0	9.675e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.67	16	chr15	23327341	.	CGT	C	32.67	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.506;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0063;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.18;ReadPosRankSum=0.936;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,41:.	16	0	1	2
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	71.93	16	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	71.93	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.747;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.5188;MLEAC=1;MLEAF=0.029;MQ=44.78;MQRankSum=-2.233;QD=4.23;ReadPosRankSum=0.779;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,29:.	16	1	0	2
chr15	23327342	23327363	GTATCTTCTCCTCCTGCTCCCT	0	exonic	LOC102723623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	71.93	16	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	*	71.93	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.747;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.5188;MLEAC=1;MLEAF=0.029;MQ=44.78;MQRankSum=-2.233;QD=4.23;ReadPosRankSum=0.779;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,29:.	16	0	1	2
chr15	23327345	23327345	T	C	exonic	LOC102723623	.	nonsynonymous SNV	LOC102723623:NM_001382446:exon8:c.A1522G:p.I508V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.899e-05	0.0006	5.949e-05	3.89e-05	6.694e-05	3.667e-05	3.251e-05	3.963e-05	3.497e-05	5.32e-05	6.694e-05	5.128e-05	0	0	0	5.509e-05	5.121e-05	3.223e-05	7.158e-05	0.0011	9.212e-05	4.95e-05	9.821e-05	3.067e-05	2.085e-05	3.289e-05	1.941e-05	5.134e-05	0	0	0	0	0.0002	0	9.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	33.26	18	chr15	23327345	.	T	C	33.26	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.764;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=0.4332;MLEAC=1;MLEAF=0.031;MQ=51.91;MQRankSum=-0.81;QD=1.96;ReadPosRankSum=0.596;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,29:.	15	0	1	3
chr15	23327345	23327345	T	0	exonic	LOC102723623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	33.26	18	chr15	23327345	.	T	*	33.26	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-0.764;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=0.4332;MLEAC=1;MLEAF=0.031;MQ=51.91;MQRankSum=-0.81;QD=1.96;ReadPosRankSum=0.596;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,29:.	15	1	0	3
chr15	23327363	23327363	T	0	exonic	LOC102723623	.	.	.	.	824	605	19	16	58	109	0.0404441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	33.66	19	chr15	23327363	.	T	*	33.66	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.101;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=0.478;MLEAC=1;MLEAF=0.033;MQ=51.91;MQRankSum=-0.81;QD=1.98;ReadPosRankSum=-0.768;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:2,0:2:0:.:.:0,0,0:.	14	1	0	4
chr15	23327391	23327391	C	A	exonic	LOC102723623	.	nonsynonymous SNV	LOC102723623:NM_001382446:exon8:c.G1476T:p.E492D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200324602	0.0001	0.0013	0.0001	0.0001	0.0002	8.28e-05	7.483e-05	6.723e-05	5.726e-05	0.0002	0.0002	0.0001	6.467e-05	0.0001	0	9.536e-05	7.791e-05	0.0001	1.678e-05	0.0009	3.248e-05	0	7.225e-05	0	0	.	.	7.225e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	66.85	19	chr15	23327391	.	C	A	66.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.904;DP=304;ExcessHet=0;FS=0;InbreedingCoeff=-0.0467;MLEAC=1;MLEAF=0.033;MQ=51.94;MQRankSum=-1.088;QD=5.57;ReadPosRankSum=-1.269;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	14	0	1	4
chr15	23329317	23329317	C	T	exonic	GOLGA6L22;LOC102723623	.	nonsynonymous SNV	GOLGA6L22:NM_001271664:exon6:c.G533A:p.R178K,LOC102723623:NM_001382446:exon6:c.G533A:p.R178K	.	808	712	1	1	0	3	0.00210231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205668299	0.0009	0.0008	0.0009	0.0010	0.0104	0.0009	0.0008	0.0069	0.0058	0.0006	0.0013	0.0027	0	0	0.0104	0.0009	0.0020	0.0005	0.0010	0.0010	0.0011	0.0010	0.0023	0.0008	0.0007	0.0013	0.0010	0.0003	0	0.0023	0.0030	0	0	0	0.0014	0.0052	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	774.13	38	chr15	23329317	.	C	T	774.13	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.081;DP=254;ExcessHet=0;FS=1.846;InbreedingCoeff=0.5742;MLEAC=4;MLEAF=0.143;MQ=26.21;MQRankSum=2.04;QD=19.35;ReadPosRankSum=-0.913;SOR=0.301	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,69	12	1	1	5
chr15	23360525	23360525	C	T	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon9:c.C140T:p.S47L	.	451	1067	4	0	0	4	0.00187091	.	.	.	2817210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.000829952493026	.	0.00139776	0.0060	0.0043	0	0	0	0.0096	0	0	0.0015752	41	26028	rs530525459	0.0057	0.0048	0.0057	0.0056	0.0076	0.0055	0.0055	0.0074	0.0073	0.0008	0.0025	0.0098	8.283e-05	0.0049	0.0035	0.0076	0.0055	0.0004	0.0046	0.0048	0.0048	0.0045	0.0075	0.0044	0.0042	0.0070	0.0068	0.0013	0	0.0025	0.0115	0	0.0050	0	0.0075	0.0029	0.0002	0.123	0.27544	T	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.83	0.72120	D	0.168	0.17828	.	.	.	.	.	.	.	0.0069929957	0.00159	T	8.3E-4	0.00691	T	.	.	.	.	0.321951552304	0.31805	0.13112575204652033	0.13037	1.60003286907	0.88681	.	.	.	.	.	.	-0.581526	0.00189	T	-0.603673	0.12505	T	.	.	.	0.784422	0.42203	T	0.09226086	0.21641	0.08733565	0.20293	0.09226086	0.21640	0.08733565	0.20292	-8.787	0.66316	D	.	.	0.178	0.38906	B	.	.	1.331529	0.17371	13.12	0.97371931595454919	0.33627	0.00864	0.03432	N	AEFI	0.026239	0.01936	N	.	.	.	.	.	.	1.14060480934259E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.848	-0.151	0.12755	1.535000	0.35667	-0.410000	0.09352	0.294000	0.18828	0.955000	0.33325	0.000000	0.08366	0.002000	0.04165	0.0:0.7584:0.0:0.2416	5.047	0.13825	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	696.33	34	chr15	23360525	.	C	T	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=672;ExcessHet=0;FS=4.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.38;MQRankSum=-0.358;QD=14.51;ReadPosRankSum=1.15;SOR=1.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1328	18	0	1	0
chr15	23361338	23361338	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon11:c.G353A:p.R118H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000515212625981	.	.	1.762e-05	0	0	0.0001	0	1.614e-05	0	0	3.84e-05	1	26028	rs751781887	6.759e-06	1.533e-05	9.968e-06	3.746e-06	2.62e-05	2.81e-06	1.81e-06	2.94e-06	1.94e-06	0	0	0	2.62e-05	0	0	8.189e-06	0	0	1.329e-05	3.288e-05	2.594e-05	0	2.452e-05	2.21e-06	8.3e-07	.	.	2.452e-05	0	0	0	0	0	0	1.48e-05	0	0	0.241	0.17643	T	0.438	0.13403	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.96	0.22270	T	-0.32	0.12283	N	0.109	0.09490	.	.	.	.	.	.	.	0.07138932	0.10516	T	5.15E-4	0.00163	T	.	.	.	.	0.401753679984	0.39785	0.07997017359187661	0.07932	0.748489768835	0.63640	.	.	.	.	.	.	-0.351589	0.04627	T	-0.74281	0.03773	T	.	.	.	0.0642936	0.00470	T	0.021101516	0.00696	0.023745455	0.00388	0.021101516	0.00695	0.023745455	0.00388	-5.656	0.43300	T	.	.	0.088	0.11845	B	.	.	0.388233	0.07598	4.259	0.69417476967360892	0.08965	0.01920	0.05866	N	AEFI	0.041701	0.06374	N	.	.	.	.	.	.	1.3263807608088E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.83	-0.369	0.11910	1.305000	0.33098	-0.370000	0.09613	-0.783000	0.03311	0.135000	0.23427	0.000000	0.08366	0.000000	0.00833	0.2497:0.3347:0.4156:0.0	2.384	0.04096	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2424.33	44	chr15	23361338	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1014;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.36;MQRankSum=4.54;QD=16.06;ReadPosRankSum=0.129;SOR=0.597	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1223	18	0	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13:96:99:.:.:272,0,3313:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,13:96:99:.:.:272,0,3313:.	12	0	7	0
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6640.54	73	chr15	23364400	.	C	A	6640.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=1243;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.73;MQRankSum=2.4;QD=13.69;ReadPosRankSum=0.104;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1488:.	17	0	2	0
chr15	23364400	23364400	C	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766G:p.Q256E	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	0.0138	0.0027	0.1229	0.0010	0.0005	0.0019	0.0023	0.0021	0.0113	1747	154602	rs190023905	0.0049	0.0049	0.0054	0.0043	0.1073	0.0048	0.0047	0.1047	0.1037	0.0009	0.1073	0.0015	0.0007	0.0004	0.0005	0.0016	0.0043	0.0019	0.0078	0.0079	0.0071	0.0085	0.0622	0.0074	0.0073	0.0589	0.0576	0.0018	0	0.0622	0.0020	0.0014	0.0005	0	0.0018	0.0057	0.0015	0.251	0.17069	T	0.805	0.04005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.56	0.89627	D	-0.46	0.14978	N	0.094	0.07398	.	.	.	.	.	.	.	0.0020659864	0.00029	T	.	.	.	.	.	.	.	.	.	0.24872049876042787	0.24786	0.649115808177	0.58234	.	.	.	.	.	.	-0.405389	0.02133	T	-0.258373	0.48987	T	.	.	.	0.470053	0.13899	T	0.049244054	0.08713	0.053658646	0.09079	0.049244054	0.08713	0.053658646	0.09079	-2.965	0.09809	T	.	.	0.069	0.02960	B	.	.	0.573830	0.09421	6.203	0.44916447368234352	0.03488	0.24773	0.22497	N	AEFCI	0.149989	0.27419	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6640.54	73	chr15	23364400	.	C	G	6640.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1243;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.73;MQRankSum=2.4;QD=13.69;ReadPosRankSum=0.104;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1488:.	18	0	1	0
chr15	23364531	23364531	T	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon16:c.T815G:p.I272S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119675895459	.	.	1.07e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs3826016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.335e-05	1.32e-05	2.608e-05	0	4.936e-05	2.22e-06	8.3e-07	8.18e-06	3.06e-06	4.936e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.92	0.23082	T	-0.73	0.20576	N	0.318	0.35832	.	.	.	.	.	.	.	0.26904655	0.44427	T	0.001197	0.01558	T	.	.	.	.	0.617388661746	0.61429	0.23240106551451215	0.23155	2.18073481268	0.95573	.	.	.	.	.	.	-0.393955	0.02536	T	-0.615855	0.11515	T	.	.	.	0.531447	0.17660	T	0.05737692	0.11411	0.07234891	0.15597	0.05737692	0.11411	0.07234891	0.15597	-3.329	0.14113	T	.	.	0.190	0.40858	B	.	.	1.553725	0.19911	14.50	0.82210087164010848	0.14074	0.43968	0.27215	N	AEFCI	0.257697	0.37638	N	.	.	.	.	.	.	8.34985602435385E-4	0.07887	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.829	0.829	0.17984	2.877000	0.48205	2.732000	0.34396	-2.092000	0.00398	0.997000	0.40164	0.270000	0.24042	0.000000	0.00833	0.0:0.0:0.0:1.0	5.994	0.18710	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2719.81	51	chr15	23364531	.	T	G	2719.81	.	AC=2;AF=0.053;AN=38;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=48.49;QD=34.87;SOR=2.833	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1488	18	1	0	0
chr15	23439898	23439898	A	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.T2577A:p.D859E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000823278663855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281434687	2.883e-06	2.737e-06	0	5.845e-06	3.723e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.38016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	0.12	0.05604	N	0.136	0.13341	.	.	.	.	.	.	.	0.07324645	0.11041	T	8.23E-4	0.00670	T	.	.	.	.	0.0401082797425	0.02173	0.007172188856076798	0.00684	0.013557928413	0.01303	.	.	.	.	.	.	-0.479057	0.00749	T	-0.925909	0.00350	T	.	.	.	0.511749	0.16382	T	0.09831733	0.23190	0.089938276	0.21062	0.09831733	0.23189	0.089938276	0.21062	-8.463	0.64184	D	.	.	0.446	0.61983	A	.	.	0.559146	0.09276	6.059	0.37165468673017343	0.02433	0.00295	0.01577	N	AEFDBI	0.031947	0.03517	N	.	.	.	.	.	.	1.33518189157633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.476	0.476	0.15990	-3.711000	0.00434	-1.806000	0.04692	-1.201000	0.01362	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	553.33	71	chr15	23439898	.	A	T	553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=1716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.98;MQRankSum=3.35;QD=6.83;ReadPosRankSum=-2.395;SOR=0.675	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr15	23440323	23440323	T	-	exonic	GOLGA6L2	.	frameshift deletion	GOLGA6L2:NM_001304388:exon8:c.2152delA:p.R718Gfs*260	.	440	1023	46	0	13	59	0.0219885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0025	0.0005	0.0005	0.0015	0.0005	0.0005	0.0012	0.0011	0.0004	0.0009	0.0011	0.0006	0.0007	0	0.0004	0.0005	0.0015	4.003e-05	0.0015	7.862e-05	0	8.722e-05	1.571e-05	9.5e-06	3.377e-05	2.148e-05	0	0	0	0	0	0	0	8.722e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	334.47	58	chr15	23440322	.	CT	C	334.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.578;DP=1108;ExcessHet=1.3;FS=9.671;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=56.75;MQRankSum=-1.664;QD=2.06;ReadPosRankSum=-0.225;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:57:.:.:0,57,855:.	18	0	1	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	2540.04	96	chr15	23440328	.	C	*	2540.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.21;DP=1241;ExcessHet=10.3881;FS=19.119;InbreedingCoeff=-0.2418;MLEAC=7;MLEAF=0.389;MQ=56.9;MQRankSum=0;QD=8.79;ReadPosRankSum=1.22;SOR=1.549	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0:37:0:.:.:0,0,0:.	5	0	4	10
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,103:159:99:.:.:6092,1960,2231:.	0	0	19	0
chr15	23440520	23440540	TCTCCTCCTGCTCCCGCATCA	-	exonic	GOLGA6L2	.	nonframeshift deletion	GOLGA6L2:NM_001304388:exon8:c.1935_1955del:p.D645_G651del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392523635	9.782e-06	8.127e-06	9.937e-06	9.632e-06	2.7e-06	4.95e-06	3.61e-06	4.5e-07	1.7e-07	0	0	0	0	0.0002	0	2.7e-06	0	0	6.621e-06	6.59e-06	0	1.354e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	837.29	142	chr15	23440519	.	TTCTCCTCCTGCTCCCGCATCA	T	837.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=2382;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.77;MQRankSum=-2.144;QD=4.76;ReadPosRankSum=0.391;SOR=0.924	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	18	0	1	0
chr15	23440587	23440587	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1888A:p.G630R	.	377	1139	6	0	0	6	0.00262697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00273111869499	.	0.00139776	0.0051	0.0020	0.0036	0	0	0.0009	0	0.0097	0.0006145	95	154602	rs372129004	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0006	0.0071	0.0069	0.0001	0.0014	0.0006	2.95e-05	0	0.0023	0.0002	0.0007	0.0076	0.0003	0.0004	0.0002	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0004	0.0012	0	0	0	0.0002	0	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	1.69	0.00584	N	0.131	0.12627	.	.	.	.	.	.	.	0.0051416755	0.00112	T	0.002731	0.05637	T	.	.	.	.	0.188950314367	0.18478	0.013426868770001222	0.01300	0.0140065937379	0.01334	.	.	.	.	.	.	-0.375741	0.03313	T	-0.777502	0.02529	T	.	.	.	0.568443	0.20183	T	0.0704227	0.15511	0.19674455	0.43420	0.0704227	0.15511	0.19674455	0.43419	-5.287	0.39814	T	.	.	0.194	0.41526	B	.	.	1.518879	0.19502	14.30	0.83715655333144168	0.14879	0.00610	0.02709	N	AEFDBI	0.036510	0.04877	N	.	.	.	.	.	.	1.33875082419496E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-2.430000	0.01101	-1.440000	0.05434	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	985.83	218	chr15	23440587	.	C	T	985.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=3019;ExcessHet=0.119;FS=0.507;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.57;MQRankSum=1.51;QD=2.65;ReadPosRankSum=0.663;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,28:175:99:1|0:23440581_C_G:425,0,5842:23440581	17	0	2	0
chr15	23441421	23441421	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1054A:p.E352K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00694899640779	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435564939	8.611e-06	7.722e-06	7.716e-06	9.532e-06	1.384e-05	4.62e-06	3.38e-06	4.23e-06	3.07e-06	0	0	4.581e-05	0	0	0	9.001e-06	0	1.384e-05	0	3.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.233	0.18122	T	0.236	0.25827	T	0.235	0.30743	B	0.072	0.28043	B	.	.	.	.	1	0.08975	N	2.07	0.56829	M	-2.07	0.85943	D	-1.55	0.37566	N	0.114	0.10198	-1.0318	0.19873	T	0.065	0.27017	T	6	0.0814935	0.13346	T	0.006949	0.18402	T	0.025	0.05312	0.383	0.40134	0.188950314367	0.18478	0.6695521574212119	0.66893	0.0366987802299	0.03888	0.528629601002	0.42841	T	0.006644	0.24867	T	-0.127768	0.31857	T	-0.421306	0.30927	T	0.228228151798248	0.21867	T	0.378562	0.09103	T	0.20721175	0.42920	0.20557737	0.44734	0.20721175	0.42920	0.20557737	0.44733	-4.203	0.26795	T	.	.	0.119	0.24396	B	.;.	.;.	0.150689	0.05428	1.902	0.59905677371549837	0.06335	0.00161	0.00961	N	AEFBI	0.033930	0.04114	N	-1.10416496934618	0.06569	0.3027555	-1.27150908495804	0.04820	0.228282	1.89544881250415E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-3.900000	0.00382	-3.264000	0.02923	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1034.33	47	chr15	23441421	.	C	T	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.356;DP=1034;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=-0.071;SOR=0.495	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	18	0	1	0
chr15	23567269	23567269	A	G	exonic	MKRN3	.	nonsynonymous SNV	MKRN3:NM_005664:exon1:c.A1487G:p.H496R	Precocious puberty, central, 2, Autosomal dominant	411	1109	2	0	0	2	0.000900901	.	.	.	2672660	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00501067901983	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749506944	1.437e-05	1.436e-05	1.906e-05	9.625e-06	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.349e-05	3.311e-05	0	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.089	0.32141	T	0.013	0.63109	D	0.001	0.07471	B	0.001	0.04355	B	0.084519	0.20693	N	0.434930	0.999889	0.26457	N	1.385	0.34509	L	1.4	0.33630	T	-1.79	0.42191	N	0.148	0.15046	-1.0661	0.10293	T	0.044	0.19111	T	10	0.12103766	0.22937	T	0.005011	0.12660	T	0.082	0.23913	0.545	0.65873	0.446510307777	0.44274	0.7882468241997728	0.78776	0.0790116083533	0.08888	0.296896159649	0.09940	T	0.09437	0.39401	T	-0.408135	0.02045	T	-0.716377	0.04972	T	0.121248312294483	0.14551	T	0.575442	0.20674	T	0.060658608	0.12471	0.058872778	0.10952	0.060658608	0.12471	0.058872778	0.10952	-2.732	0.07575	T	.	.	0.107	0.20117	B	.	.	0.473787	0.08434	5.190	0.51827510795360099	0.04634	0.53537	0.29396	D	AEDBCI	0.154493	0.27953	N	-1.17011412493751	0.05457	0.2488173	-1.25511036780235	0.05055	0.2399992	0.999999125197123	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	-6.04	0.01995	0.713000	0.25464	0.607000	0.19990	-0.041000	0.17446	0.974000	0.34632	0.001000	0.17328	0.068000	0.16518	0.216:0.2538:0.259:0.2713	0.370	0.00351	994	0.00715	E3 ubiquitin-protein ligase makorin 1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2469.33	34	chr15	23567269	.	A	G	2469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=846;ExcessHet=0;FS=4.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.032;SOR=1.012	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr15	23645669	23645669	C	T	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.G2074A:p.V692I	Schaaf-Yang syndrome, Autosomal dominant	1	1471	46	4	0	54	0.018024	.	.	.	190564	not_provided|Prader-Willi_syndrome|Schaaf-Yang_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0012	0.00419329	0.0054	0.0006	0.0014	0.0002	0	0.0032	0.0117	0.0324	0.0033829	523	154602	rs200926181	0.0033	0.0034	0.0028	0.0038	0.0201	0.0032	0.0032	0.0193	0.0189	0.0005	0.0011	0.0037	0.0001	1.981e-05	0.0094	0.0025	0.0039	0.0201	0.0020	0.0020	0.0018	0.0023	0.0193	0.0019	0.0018	0.0161	0.0149	0.0004	0	0.0007	0.0055	0	0	0.0034	0.0025	0.0019	0.0193	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.003316313	0.00057	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.11124448204977332	0.11053	0.05440095498	0.06016	0.510307192802	0.40265	T	0.04594	0.27275	T	-0.717938	0.00028	T	-0.787788	0.02226	T	.	.	.	0.440756	0.12177	T	0.014713494	0.00105	0.041571822	0.04755	0.016205389	0.00182	0.028322473	0.01058	-4.396	0.29503	T	.	.	0.09	0.12607	B	.;.	.;.	0.107297	0.05076	1.614	0.96116436994406906	0.28760	0.08880	0.14741	N	AEFDBHCI	0.045935	0.07571	N	.	.	.	.	.	.	0.825701949765922	0.24603	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	3.54	1.35	0.21078	0.387000	0.20445	-0.640000	0.08082	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3088:0.4742:0.0:0.2171	2.066	0.03384	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005572	0.000000	0.006849	0.000000	0.000000	0.000000	0.006135	0.007634	0.05263	3957.83	43	chr15	23645669	.	C	T	3957.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=976;ExcessHet=0.119;FS=7.262;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.767;SOR=0.585	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1478	17	0	2	0
chr15	23646358	23646378	GGGGCCTGGCGGATCACGGGT	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.1365_1385del:p.P456_P462del	Schaaf-Yang syndrome, Autosomal dominant	1	219	6	0	0	6	0.0135135	.	.	.	190568	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0041	3.84e-05	1	26028	rs1369621653	0.0014	0.0013	0.0010	0.0018	0.0132	0.0013	0.0013	0.0124	0.0121	0.0003	0.0012	0.0031	0.0005	0.0002	0.0044	0.0008	0.0022	0.0132	0.0021	0.0021	0.0018	0.0023	0.0201	0.0019	0.0018	0.0167	0.0155	0.0004	0	0.0007	0.0051	0.0013	0	0.0039	0.0024	0.0020	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2648.79	70	chr15	23646357	.	GGGGGCCTGGCGGATCACGGGT	G	2648.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.48;DP=1007;ExcessHet=0.119;FS=3.311;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.249;SOR=0.714	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1120	17	0	2	0
chr15	23646824	23646824	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C919T:p.P307S	Schaaf-Yang syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	429618	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	0	0.0020	0	0.0004	0.0002005	31	154602	rs555920534	0.0011	0.0010	0.0011	0.0010	0.0018	0.0010	0.0010	0.0012	0.0011	0.0002	0.0002	0.0009	0	0.0004	0.0018	0.0012	0.0010	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.407e-05	0.0034	0.0011	0	0.0006	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.36043	.	.	.	.	.	.	.	0.020911455	0.00490	T	.	.	.	.	.	.	.	0.189391138174	0.18552	0.27398347525440125	0.27311	.	.	0.569063305855	0.48545	T	0.135	0.46609	T	-0.261197	0.12760	T	-0.198408	0.54798	T	.	.	.	0.582642	0.21138	T	0.036905363	0.04628	0.10031832	0.23981	0.036905363	0.04628	0.10031832	0.23980	-5.874	0.45212	T	.	.	0.134	0.29032	B	.;.	.;.	2.170948	0.27664	17.54	0.90032395018100519	0.19320	0.10603	0.16063	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.99267087112918	0.32927	0.162408	0.03677	1	0.063388	0.01293	0	0.132232	0.03703	1	0.062806	0.01542	0	0.123528	0.25025	3.29	0.18	0.14352	0.945000	0.28654	3.550000	0.39044	-0.255000	0.07062	0.007000	0.17678	1.000000	0.68203	0.019000	0.11356	0.1066:0.3463:0.5471:0.0	6.632	0.22056	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002801	0.000000	0.000000	0.000000	0.000000	0.000000	0.007246	0.000000	0.02632	2100.33	37	chr15	23646824	.	G	A	2100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=860;ExcessHet=0;FS=1.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.282;SOR=0.53	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1120	18	0	1	0
chr15	24676688	24676688	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A821G:p.Q274R	.	423	1097	2	0	0	2	0.000910747	.	.	.	2756720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.000911080049513	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0	6.064e-05	9.7e-05	15	154602	rs200204213	8.483e-05	8.482e-05	7.896e-05	9.076e-05	0.0003	7.209e-05	6.797e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0003	9.083e-05	8.279e-05	5.797e-05	3.285e-05	3.283e-05	6.422e-05	0	7.348e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.018	0.50676	D	0.53	0.10103	T	0.925	0.51395	P	0.519	0.48163	P	0.498827	0.05079	N	1.392350	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-1.58	0.38151	N	0.081	0.05670	-1.0093	0.27136	T	0.024	0.10194	T	10	0.07051703	0.10270	T	9.11E-4	0.00866	T	0.041	0.10877	.	.	0.0846915920261	0.08053	0.07547296686719404	0.07483	0.283751403844	0.30810	0.36280927062	0.19794	T	0.007673	0.07062	T	-0.555995	0.00268	T	-0.738865	0.03939	T	0.0531040839850903	0.06037	T	0.204979	0.02394	T	0.07633118	0.17257	0.051912937	0.08450	0.07633118	0.17257	0.051912937	0.08450	-3.28	0.13480	T	.	.	0.112	0.22098	B	.	.	1.056184	0.14379	10.95	0.96633096423318499	0.30524	0.02160	0.06344	N	AEFDHCI	0.038304	0.05399	N	-0.737260214172483	0.14981	0.7510254	-0.954218908157963	0.10825	0.547749	0.415525640980921	0.20248	0.487112	0.14033	0	0.573888	0.26702	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	2.07	-0.331	0.12050	-0.195000	0.09546	-0.249000	0.10523	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.6073:0.0:0.3927:0.0	4.202	0.09929	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	34	chr15	24676688	.	A	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=1535;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.445;SOR=0.614	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr15	24676747	24676747	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A880G:p.I294V	.	418	1101	3	0	0	3	0.00136054	.	.	.	3352068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.000720298722326	.	0.000399361	0.0002	0	0.0002	0	0	0.0003	0.0011	6.074e-05	0.0001746	27	154602	rs139890361	0.0001	0.0001	8.305e-05	0.0001	0.0017	9.051e-05	8.533e-05	0.0009	0.0007	2.987e-05	0.0001	7.653e-05	0	0	0.0017	9.982e-05	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	0.0001	7.895e-05	0	0	0.0001	0.0003	0	0	0	0.0002	0.0014	0.0002	0.196	0.20683	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.8	0.11082	T	0.44	0.03243	N	0.092	0.07125	-0.9393	0.42727	T	0.013	0.05081	T	8	0.021675736	0.00524	T	7.2E-4	0.00472	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.07163261094434235	0.07100	0.0570802132596	0.06311	0.299245327711	0.10289	T	0.001177	0.00676	T	-0.58317	0.00184	T	-0.769483	0.02785	T	0.0244387569516826	0.01201	T	0.225777	0.02969	T	0.083168544	0.19193	0.085530505	0.19756	0.083168544	0.19193	0.085530505	0.19755	-2.302	0.04566	T	.	.	0.121	0.25133	B	.	.	-0.033523	0.04055	0.941	0.22311567455437792	0.00891	0.01863	0.05749	N	AEFDHCI	0.029661	0.02842	N	-1.30672641988461	0.03598	0.1609797	-1.39533411735528	0.03301	0.1537264	0.414778506192137	0.20242	0.487112	0.14033	0	0.573888	0.26702	0	0.596394	0.31383	0	0.564101	0.26826	0	.	.	0.158	0.158	0.14233	0.055000	0.14112	-1.458000	0.05393	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	6592.81	34	chr15	24676747	.	A	G	6592.81	.	AC=2;AF=0.053;AN=38;DP=1700;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.8;SOR=0.786	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	1	0	0
chr15	24678895	24678895	G	A	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.G3028A:p.G1010R	.	421	1076	25	0	0	25	0.0114837	.	.	.	2817251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00121404609932	0.0019	0.000599042	0.0030	9.623e-05	0.0003	0.0001	0.0100	0.0037	0.0077	0.0021	0.0028007	433	154602	rs150300590	0.0033	0.0033	0.0033	0.0033	0.0059	0.0032	0.0032	0.0043	0.0038	0.0004	0.0005	3.826e-05	2.519e-05	0.0127	0.0059	0.0033	0.0031	0.0021	0.0028	0.0028	0.0024	0.0033	0.0036	0.0026	0.0025	0.0033	0.0031	0.0006	0	0.0006	0	0	0.0129	0.0034	0.0036	0.0019	0.0017	0.002	0.72154	D	0.034	0.52727	D	0.659	0.40886	P	0.077	0.28532	B	0.821566	0.06887	N	1.112960	1	0.08975	N	1.7	0.43825	L	3.03	0.08898	T	-4.05	0.74504	D	0.412	0.45237	-0.9886	0.32953	T	0.013	0.05273	T	10	0.005661458	0.00126	T	0.001214	0.01583	T	0.125	0.34456	0.185	0.09388	0.0401082797425	0.02173	0.3499361423360902	0.34907	0.324749720298	0.34627	0.243748247623	0.03137	T	0.045521	0.27148	T	-0.470638	0.00842	T	-0.448	0.27919	T	0.0315603970527918	0.02236	T	0.427957	0.11563	T	0.20261577	0.42312	0.21881671	0.46599	0.20261577	0.42312	0.21881671	0.46598	-5.126	0.38180	T	.	.	0.761	0.75517	P	.	.	1.822394	0.23154	15.91	0.95881664859828264	0.28076	0.01531	0.05040	N	AEFDCI	0.030277	0.03017	N	-0.837060522279534	0.12370	0.6025892	-1.00978703498442	0.09570	0.4768409	0.00760291158886156	0.11504	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	1.63	-1.38	0.08554	-0.070000	0.11483	0.028000	0.13690	0.373000	0.20310	0.020000	0.19661	0.000000	0.08366	0.478000	0.28520	0.3009:0.0:0.4012:0.2979	1.76	0.02809	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2225.33	39	chr15	24678895	.	G	A	2225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=1004;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.11;SOR=0.662	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr15	25370988	25370988	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1009A:p.E337K,UBE3A:NM_001354548:exon4:c.G1126A:p.E376K,UBE3A:NM_001354549:exon4:c.G1126A:p.E376K,UBE3A:NM_130838:exon4:c.G1126A:p.E376K,UBE3A:NM_001354542:exon5:c.G1126A:p.E376K,UBE3A:NM_001354505:exon6:c.G1186A:p.E396K,UBE3A:NM_001354545:exon6:c.G1186A:p.E396K,UBE3A:NM_001374461:exon6:c.G1126A:p.E376K,UBE3A:NM_130839:exon6:c.G1186A:p.E396K,UBE3A:NM_000462:exon7:c.G1195A:p.E399K,UBE3A:NM_001354508:exon7:c.G1126A:p.E376K,UBE3A:NM_001354511:exon7:c.G1126A:p.E376K,UBE3A:NM_001354512:exon7:c.G1126A:p.E376K,UBE3A:NM_001354513:exon7:c.G1126A:p.E376K,UBE3A:NM_001354523:exon7:c.G1126A:p.E376K,UBE3A:NM_001354538:exon7:c.G1186A:p.E396K,UBE3A:NM_001354539:exon7:c.G1126A:p.E376K,UBE3A:NM_001354547:exon7:c.G1126A:p.E376K,UBE3A:NM_001354506:exon8:c.G1126A:p.E376K,UBE3A:NM_001354507:exon8:c.G1126A:p.E376K,UBE3A:NM_001354509:exon8:c.G1126A:p.E376K,UBE3A:NM_001354526:exon8:c.G1126A:p.E376K,UBE3A:NM_001354541:exon8:c.G1126A:p.E376K,UBE3A:NM_001354544:exon8:c.G1126A:p.E376K,UBE3A:NM_001354540:exon9:c.G1126A:p.E376K,UBE3A:NM_001354543:exon10:c.G1126A:p.E376K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0632156903374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.798	0.04168	T	0.95	0.53885	P	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.84	0.74265	T	-0.79	0.21860	N	0.662	0.74826	-0.6074	0.64511	T	0.342	0.70794	T	10	0.42258328	0.56963	T	0.063216	0.68897	D	0.340	0.66202	0.449	0.50957	0.402881280848	0.39899	0.5371458093378796	0.53639	1.09038453896	0.77410	0.666752576828	0.62375	T	0.127811	0.45507	T	0.142979	0.68608	D	-0.0323968	0.68209	D	0.603581189142381	0.36543	D	0.978702	0.92791	D	0.24791744	0.47774	0.28203094	0.54188	0.24791744	0.47773	0.28203094	0.54187	-5.505	0.42965	T	.	.	0.343	0.56651	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.170511	0.62707	24.5	0.9956762370448623	0.72197	0.99019	0.90044	D	AEFGBI	0.877092	0.80151	D	0.171195768447697	0.49820	3.178202	0.332471228125121	0.57457	3.911528	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	51.11	41	chr15	25370988	.	C	T	51.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.964;DP=1585;ExcessHet=0;FS=143.978;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-0.452;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:87,0:87:51:.:.:0,51,2341:.	16	0	1	2
chr15	25370991	25370991	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1006A:p.E336K,UBE3A:NM_001354548:exon4:c.G1123A:p.E375K,UBE3A:NM_001354549:exon4:c.G1123A:p.E375K,UBE3A:NM_130838:exon4:c.G1123A:p.E375K,UBE3A:NM_001354542:exon5:c.G1123A:p.E375K,UBE3A:NM_001354505:exon6:c.G1183A:p.E395K,UBE3A:NM_001354545:exon6:c.G1183A:p.E395K,UBE3A:NM_001374461:exon6:c.G1123A:p.E375K,UBE3A:NM_130839:exon6:c.G1183A:p.E395K,UBE3A:NM_000462:exon7:c.G1192A:p.E398K,UBE3A:NM_001354508:exon7:c.G1123A:p.E375K,UBE3A:NM_001354511:exon7:c.G1123A:p.E375K,UBE3A:NM_001354512:exon7:c.G1123A:p.E375K,UBE3A:NM_001354513:exon7:c.G1123A:p.E375K,UBE3A:NM_001354523:exon7:c.G1123A:p.E375K,UBE3A:NM_001354538:exon7:c.G1183A:p.E395K,UBE3A:NM_001354539:exon7:c.G1123A:p.E375K,UBE3A:NM_001354547:exon7:c.G1123A:p.E375K,UBE3A:NM_001354506:exon8:c.G1123A:p.E375K,UBE3A:NM_001354507:exon8:c.G1123A:p.E375K,UBE3A:NM_001354509:exon8:c.G1123A:p.E375K,UBE3A:NM_001354526:exon8:c.G1123A:p.E375K,UBE3A:NM_001354541:exon8:c.G1123A:p.E375K,UBE3A:NM_001354544:exon8:c.G1123A:p.E375K,UBE3A:NM_001354540:exon9:c.G1123A:p.E375K,UBE3A:NM_001354543:exon10:c.G1123A:p.E375K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0398010226649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.08261	T	0.823	0.03933	T	0.532	0.37747	P	0.189	0.36295	B	0.000011	0.62929	D	0.146848	0.999809	0.52396	D	1.735	0.44892	L	-1.02	0.76300	T	-0.27	0.11366	N	0.373	0.49965	-0.6422	0.63052	T	0.276	0.64814	T	10	0.20454767	0.36650	T	0.039801	0.59014	D	0.364	0.68407	0.473	0.54859	0.291402777868	0.28757	0.45846223595384095	0.45764	1.06789217917	0.76694	0.608282506466	0.54073	T	0.110445	0.42514	T	0.0126602	0.53389	T	-0.219591	0.52776	T	0.405096530914307	0.29134	T	0.972203	0.89922	D	0.11812223	0.27836	0.14226903	0.33852	0.11812223	0.27836	0.14226903	0.33851	-5.871	0.46911	T	.	.	0.182	0.57009	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.416773	0.47423	22.5	0.99266957125593447	0.57423	0.97471	0.74963	D	AEFGBI	0.540093	0.55680	D	-0.0659086732145077	0.38893	2.285128	0.137376361171122	0.46477	2.893042	0.999999999994192	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.903000	0.62964	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.33	41	chr15	25370991	.	C	T	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.425;DP=1270;ExcessHet=0;FS=46.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.57;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:104,0:104:99:.:.:0,120,1800:.	18	0	1	0
chr15	28387622	28387622	G	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G694A:p.D232N,GOLGA8G:NM_001368080:exon14:c.G682A:p.D228N,GOLGA8G:NM_001350919:exon15:c.G1336A:p.D446N,GOLGA8F:NM_001350920:exon15:c.G1300A:p.D434N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00145506652939	.	.	3.132e-05	0	0	0	0	0	0	0.0003	.	.	.	rs772661040	5.131e-06	6.566e-06	5.466e-06	4.834e-06	5.578e-05	1.2e-06	8.1e-07	1.902e-05	1.077e-05	0	0	0	0	0	0	0	0	5.578e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.28958	T	0.99	0.63424	D	0.827	0.59428	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.110694885	0.20700	T	0.001455	0.02189	T	.	.	.	.	0.110392049598	0.10638	0.16042624436375658	0.15963	1.66514184945	0.89766	.	.	.	0.018441	0.14866	T	-0.466229	0.00898	T	-0.713173	0.05133	T	.	.	.	0.684232	0.29780	T	0.14547484	0.33345	0.13871856	0.33119	0.14547484	0.33345	0.13871856	0.33119	-5.952	0.45876	T	.	.	0.152	0.34094	B	.;.	.;.	1.748897	0.22250	15.54	0.9943436558955433	0.64423	0.18180	0.20153	N	AEFI	0.099358	0.20002	N	.	.	.	.	.	.	4.41246437135869E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	0.628	0.16854	1.608000	0.36458	2.555000	0.33284	0.167000	0.17740	0.850000	0.30445	0.129000	0.22981	0.111000	0.18785	1.0E-4:0.0:0.9999:0.0	7.078	0.24392	405	0.82444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.81	73	chr15	28387622	.	G	A	321.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=0.9998;MLEAC=2;MLEAF=0.053;MQ=32.33;QD=24.75;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1285	18	1	0	0
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I,GOLGA8G:NM_001368080:exon8:c.G27T:p.M9I,GOLGA8G:NM_001350919:exon9:c.G681T:p.M227I,GOLGA8F:NM_001350920:exon9:c.G645T:p.M215I	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	33	chr15	28527435	.	C	A	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=704;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.22;MQRankSum=0.499;QD=10.96;ReadPosRankSum=0.646;SOR=0.92	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1421	18	0	1	0
chr15	28531124	28531124	T	C	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001350919:exon2:c.A89G:p.K30R,GOLGA8F:NM_001350920:exon2:c.A53G:p.K18R	.	705	813	2	2	0	6	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00642619408815	.	.	0.0011	0	0	0	0	0.0016	0	0	.	.	.	rs768817884	0.0002	0.0001	0.0003	0.0002	0.0017	0.0002	0.0002	0.0005	0.0002	0	0.0004	0	0	0	0.0017	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	6.316e-05	0.0002	5.991e-05	4.347e-05	9.529e-05	6.936e-05	0	0	0	0	0	0	0	0.0002	0	0	0.475	0.08359	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.89	0.45636	T	-2.08	0.47514	N	0.118	0.10769	.	.	.	.	.	.	.	0.035066783	0.01739	T	0.006426	0.16899	T	.	.	.	.	0.158396225186	0.15383	0.15930807767843935	0.15851	2.14202095503	0.95240	.	.	.	.	.	.	-0.556285	0.00267	T	-0.7109	0.05249	T	.	.	.	0.573243	0.20505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23148	B	.	.	0.270553	0.06484	2.959	0.98752220707641203	0.45679	0.00163	0.00971	N	AEFI	0.021675	0.00992	N	.	.	.	.	.	.	2.07638995586446E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.763	-1.53	0.08156	-0.263000	0.08695	-0.189000	0.11056	0.197000	0.17898	0.849000	0.30428	0.000000	0.08366	0.030000	0.13115	0.0:0.507:0.0:0.493	4.123	0.09584	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	741.76	.	chr15	28531124	.	T	C	741.76	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.664;DP=434;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.042;MQ=32.81;MQRankSum=-0.344;QD=13.74;ReadPosRankSum=-0.616;SOR=0.885	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	0	1	7
chr15	28702043	28702043	C	T	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.G1810A:p.V604M	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000407684273791	.	0.000399361	0.0007	0	0.0059	0	0	0.0011	0	0	0.0001617	25	154602	rs201780686	0.0012	0.0016	0.0013	0.0012	0.0031	0.0012	0.0012	0.0027	0.0025	0.0006	0.0031	0.0006	0.0001	0.0002	0.0019	0.0014	0.0014	0.0002	0.0015	0.0022	0.0016	0.0015	0.0040	0.0014	0.0013	0.0032	0.0029	0.0014	0.0110	0.0040	0.0006	0.0004	0.0007	0	0.0013	0.0019	0.0004	0.784	0.03253	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	0.08	0.06026	N	0.062	0.03392	.	.	.	.	.	.	.	0.006243199	0.00141	T	4.08E-4	0.00078	T	.	.	.	.	0.043077524339	0.03247	0.07512464232147913	0.07448	0.618474577823	0.56239	.	.	.	0.001834	0.01251	T	-0.680962	0.00047	T	-0.755547	0.03275	T	.	.	.	0.629237	0.24427	T	0.036643997	0.04547	0.050771635	0.08035	0.036643997	0.04547	0.050771635	0.08035	-5.085	0.37748	T	.	.	0.124	0.26042	B	.	.	0.157835	0.05491	1.955	0.75009169287455679	0.10910	0.00183	0.01069	N	AEFI	0.016202	0.00351	N	.	.	.	.	.	.	1.23880978517913E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.798	-0.662	0.10840	1.126000	0.30958	-0.849000	0.07186	-0.976000	0.01917	1.000000	0.71638	0.000000	0.08366	0.007000	0.07825	0.0:0.3701:0.0:0.6299	2.884	0.05307	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.33	43	chr15	28702043	.	C	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=734;ExcessHet=0;FS=27.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.25;MQRankSum=-3.021;QD=1;ReadPosRankSum=0.935;SOR=4.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	18	0	1	0
chr15	28843098	28843098	-	CCCCATCTGCTCCTCCTGCTT	exonic	GOLGA6L7	.	nonframeshift insertion	GOLGA6L7:NM_001365371:exon9:c.1005_1006insAAGCAGGAGGAGCAGATGGGG:p.E336_I617delinsKQEEQMGEQEEQMRKQEKQMLKQKEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQMGEQMRKQEEQMGEQEEQIRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMGEQEEQMRKQVERLQFKEERLWDEYEKMQEEEEKIRRQVEKRREKKERMGEQEKTQEERCSEPCLPPSKYPSDMSHPGSLEPAREAGKGYSHDNRTAQIMQLPPGMKNAQERPGLGSTSCIPFFYGGDKKKIKIISI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.941e-05	5.914e-05	3.266e-05	4.675e-05	0.0004	2.987e-05	2.66e-05	0.0002	0.0001	0	0	0	7.226e-05	0	0.0003	2.661e-05	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0052	0.0001	0.0001	0.0035	0.0030	0	0	0	0	0.0004	0	0.0040	4.735e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	45.77	8	chr15	28843098	.	C	CCCCCATCTGCTCCTCCTGCTT	45.77	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.728;DP=200;ExcessHet=0;FS=7.549;InbreedingCoeff=0.2558;MLEAC=1;MLEAF=0.028;MQ=51.48;MQRankSum=1.73;QD=4.58;ReadPosRankSum=-1.47;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,250:.	17	0	1	1
chr15	28843102	28843143	CATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCG	-	exonic	GOLGA6L7	.	nonframeshift deletion	GOLGA6L7:NM_001365371:exon9:c.961_1002del:p.R321_I617delinsGEQEEQMRKQEKQMLKQKEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQMGEQMRKQEEQMGEQEEQIRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMGEQEEQMRKQVERLQFKEERLWDEYEKMQEEEEKIRRQVEKRREKKERMGEQEKTQEERCSEPCLPPSKYPSDMSHPGSLEPAREAGKGYSHDNRTAQIMQLPPGMKNAQERPGLGSTSCIPFFYGGDKKKIKIISI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0007	0.0008	0.0006	0.0283	0.0007	0.0006	0.0262	0.0254	0.0283	0.0030	0.0009	0.0027	0	0.0015	4.026e-05	0.0023	0.0010	0.0003	0.0014	0.0003	0.0004	0.0016	0.0003	0.0002	0.0011	0.0010	0.0016	0	9.98e-05	0	0	0	0	0	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	106.17	8	chr15	28843101	.	CCATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCG	C	106.17	.	AC=1;AF=0.029;AN=34;DP=194;ExcessHet=0;FS=0;InbreedingCoeff=-0.0537;MLEAC=1;MLEAF=0.029;MQ=48.85;QD=26.54;SOR=1.609	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,215	16	0	1	2
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.55	10	chr15	28843134	.	C	T	378.55	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	14	0	4	1
chr15	28843134	28843134	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	378.55	10	chr15	28843134	.	C	*	378.55	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=1;MLEAF=0.028;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:6,0:8:66:0|1:28843134_C_T:66,84,336:28843134	17	0	1	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.71	10	chr15	28843135	.	C	A	378.71	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	14	0	4	1
chr15	28843135	28843135	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	378.71	10	chr15	28843135	.	C	*	378.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=1;MLEAF=0.028;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:6,0:8:66:0|1:28843134_C_T:66,84,336:28843134	17	0	1	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	387.69	11	chr15	28843142	.	C	A	387.69	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=4;MLEAF=0.111;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	14	0	4	1
chr15	28843142	28843142	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	387.69	11	chr15	28843142	.	C	*	387.69	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=1;MLEAF=0.028;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:5,0:7:69:0|1:28843134_C_T:69,84,294:28843134	17	0	1	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	355.97	11	chr15	28843145	.	A	G	355.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.521;DP=208;ExcessHet=0.3672;FS=1.374;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.083;MQ=54.36;MQRankSum=-2;QD=9.89;ReadPosRankSum=0.932;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.12	12	chr15	28843152	.	C	T	333.12	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.242;DP=208;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.1245;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-0.241;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	333.28	12	chr15	28843155	.	C	T	333.28	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.21;DP=204;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.124;MLEAC=3;MLEAF=0.083;MQ=53.84;MQRankSum=-1.559;QD=10.75;ReadPosRankSum=-1.016;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:28843134_C_T:69,0,204:28843134	15	0	3	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	225.85	10	chr15	28843163	.	C	A	225.85	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.826;DP=209;ExcessHet=0.119;FS=1.824;InbreedingCoeff=-0.0784;MLEAC=2;MLEAF=0.056;MQ=55.59;MQRankSum=-1.559;QD=9.82;ReadPosRankSum=0.071;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:18:.:.:0,18,270:.	16	0	2	1
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	235.23	12	chr15	28843173	.	C	T	235.23	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2;DP=206;ExcessHet=0.119;FS=2.128;InbreedingCoeff=-0.0889;MLEAC=2;MLEAF=0.056;MQ=54.9;MQRankSum=-1.501;QD=11.76;ReadPosRankSum=-1.016;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:7:.:.:0,7,207:.	16	0	2	1
chr15	28843184	28843184	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G920A:p.R307Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234911443	0.0001	0.0004	8.898e-05	0.0001	0.0006	8.363e-05	7.398e-05	0.0002	0.0002	0	0.0006	9.459e-05	0.0002	0	0	9.178e-05	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0002	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09230423	0.16243	T	.	.	.	.	.	.	.	.	.	0.015862042107251405	0.01542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772023	0.40277	T	0.025436746	0.01482	0.052157898	0.08539	0.025436746	0.01482	0.052157898	0.08539	-7.527	0.57801	D	.	.	0.092	0.13409	B	.	.	1.226396	0.16205	12.39	0.49541547242566591	0.04228	0.00812	0.03292	N	AEFCI	.	.	.	.	.	.	.	.	.	1.82142312209372E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-1.693000	0.02018	-5.115000	0.01843	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3416:0.0:0.6584	3.773	0.08172	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	154.33	15	chr15	28843184	.	C	T	154.33	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.1;DP=212;ExcessHet=0.119;FS=2.694;InbreedingCoeff=-0.0896;MLEAC=2;MLEAF=0.056;MQ=55.54;MQRankSum=0.319;QD=9.08;ReadPosRankSum=-1.016;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:7:.:.:0,7,183:.	16	0	2	1
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.02632	1099.33	34	chr15	29124687	.	C	G	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=722;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.234;SOR=1.024	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr15	29708628	29708628	G	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon24:c.C4541G:p.S1514C,TJP1:NM_175610:exon24:c.C4541G:p.S1514C,TJP1:NM_001301026:exon25:c.C4553G:p.S1518C,TJP1:NM_001330239:exon25:c.C4781G:p.S1594C,TJP1:NM_001355013:exon25:c.C4793G:p.S1598C,TJP1:NM_001355014:exon25:c.C4781G:p.S1594C,TJP1:NM_003257:exon25:c.C4781G:p.S1594C,TJP1:NM_001301025:exon26:c.C5060G:p.S1687C,TJP1:NM_001355012:exon26:c.C5060G:p.S1687C	.	431	1081	10	0	0	10	0.00460405	.	.	.	2267161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.00888550391175	0.0002	.	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0004	0.0002911	45	154602	rs200957753	0.0003	0.0003	0.0002	0.0003	0.0069	0.0002	0.0002	0.0052	0.0046	0.0002	0.0005	0.0001	0	5.616e-05	0.0069	0.0002	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	9.65e-05	0	0.0004	0	0	0	0.0032	0.0002	0.0005	0.0006	0.001	0.78490	D	0.004	0.74150	D	0.958	0.59044	D	0.625	0.55268	P	0.000005	0.62929	D	0.110132	0.999853	0.49910	D	0.805	0.20218	L	3.24	0.07024	T	-1.21	0.30762	N	0.382	0.52119	-1.2536	0.00005	T	0.054	0.22731	T	10	0.12284854	0.23310	T	0.008886	0.23439	T	0.255	0.56562	.	.	0.0675242888579	0.06100	0.2931706851141975	0.29230	0.234990860398	0.26029	0.38329911232	0.22724	T	0.201485	0.55938	T	-0.3161	0.07222	T	-0.349102	0.39307	T	0.390551835298538	0.28585	T	0.928207	0.73726	D	0.28187197	0.51227	0.19785282	0.43588	0.28187197	0.51227	0.19785282	0.43587	-8.529	0.66080	D	.	.	0.112	0.22282	B	.;.;.;.;.	.;.;.;.;.	4.599775	0.72836	25.9	0.99230516099741151	0.56214	0.99719	0.98940	D	AEFDBI	0.915589	0.88059	D	0.819872373553367	0.87332	9.18151	0.86536157868631	0.93880	12.34606	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	9.602000	0.97623	9.891000	0.82274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.879	0.99870	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.014946	0.008772	0.000000	0.017241	0.006098	0.000000	0.02632	2434.33	34	chr15	29708628	.	G	C	2434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.336;DP=797;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-1.337;SOR=0.482	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1432	18	0	1	0
chr15	29708719	29708719	A	G	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon24:c.T4450C:p.S1484P,TJP1:NM_175610:exon24:c.T4450C:p.S1484P,TJP1:NM_001301026:exon25:c.T4462C:p.S1488P,TJP1:NM_001330239:exon25:c.T4690C:p.S1564P,TJP1:NM_001355013:exon25:c.T4702C:p.S1568P,TJP1:NM_001355014:exon25:c.T4690C:p.S1564P,TJP1:NM_003257:exon25:c.T4690C:p.S1564P,TJP1:NM_001301025:exon26:c.T4969C:p.S1657P,TJP1:NM_001355012:exon26:c.T4969C:p.S1657P	.	432	1083	7	0	0	7	0.00322135	.	.	.	2330288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00618599099557	0.0003	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001423	22	154602	rs199603537	8.482e-05	8.482e-05	6.806e-05	0.0001	0.0042	7.208e-05	6.796e-05	0.0029	0.0024	0.0001	4.472e-05	0	0	0	0.0042	6.115e-05	0.0002	0.0002	7.875e-05	7.873e-05	7.706e-05	8.052e-05	0.0002	4.491e-05	3.508e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0.0034	0.0001	0.0009	0.0002	0.321	0.13925	T	0.381	0.18071	T	0.0	0.07471	B	0.001	0.10090	B	0.010953	0.29719	N	0.379321	0.999375	0.21289	N	-1.1	0.00987	N	0.9	0.45248	T	-0.28	0.14390	N	0.113	0.39254	-1.0906	0.05433	T	0.056	0.23488	T	10	0.05846733	0.06877	T	0.006186	0.16200	T	0.060	0.17295	.	.	0.0675242888579	0.06100	0.06413629325010267	0.06352	0.0892125272188	0.10079	0.377797335386	0.21944	T	0.081739	0.36666	T	-0.396209	0.02452	T	-0.514755	0.20827	T	0.0378528336186939	0.03306	T	0.741926	0.36121	T	0.084586285	0.19585	0.0595764	0.11203	0.084586285	0.19585	0.0595764	0.11202	-3.084	0.11342	T	.	.	0.061	0.03197	B	.;.;.;.;.	.;.;.;.;.	1.811294	0.23020	15.85	0.9465381491742263	0.25263	0.80867	0.40397	D	AEFDBIJ	0.287547	0.39967	N	-0.47922839633881	0.22763	1.217711	-0.347353207693491	0.26591	1.469765	0.993455683341944	0.33222	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.65	2.01	0.25568	1.950000	0.39948	0.487000	0.18863	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.996000	0.76049	0.5139:0.1753:0.3108:0.0	4.14	0.09657	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2861.33	34	chr15	29708719	.	A	G	2861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=868;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.147;SOR=0.828	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1432	18	0	1	0
chr15	29718486	29718486	C	T	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon20:c.G3416A:p.G1139D,TJP1:NM_175610:exon20:c.G3416A:p.G1139D,TJP1:NM_001301026:exon21:c.G3428A:p.G1143D,TJP1:NM_001330239:exon21:c.G3656A:p.G1219D,TJP1:NM_001355013:exon21:c.G3668A:p.G1223D,TJP1:NM_001355014:exon21:c.G3656A:p.G1219D,TJP1:NM_003257:exon21:c.G3656A:p.G1219D,TJP1:NM_001301025:exon22:c.G3935A:p.G1312D,TJP1:NM_001355012:exon22:c.G3935A:p.G1312D	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00878790523755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444188327	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.54683	D	0.089	0.41742	T	0.134	0.52202	B	0.046	0.45392	B	0.199002	0.16649	N	0.656653	0.819145	0.28904	N	1.87	0.49600	L	3.31	0.06445	T	-0.38	0.13418	N	0.403	0.60579	-1.1114	0.02952	T	0.026	0.11087	T	10	0.14398506	0.27331	T	0.008788	0.23196	T	0.047	0.12962	0.189	0.09907	0.043077524339	0.03247	0.1483457007780607	0.14756	0.101639587163	0.11499	0.407557427883	0.26119	T	0.128902	0.45684	T	-0.205255	0.20051	T	-0.532611	0.19027	T	0.115420528710378	0.13977	T	0.909409	0.73308	D	0.06892477	0.15058	0.1045765	0.25119	0.06892477	0.15058	0.1045765	0.25118	-4.167	0.31201	T	.	.	0.166	0.43476	B	.;.;.;.;.	.;.;.;.;.	3.099892	0.41772	21.4	0.9872730621909912	0.45304	0.91270	0.53196	D	AEFDBI	0.430234	0.49302	N	-0.133401597176399	0.35943	2.07109	-0.121111400227971	0.34540	1.987965	0.999998481817623	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	4.71	0.59010	1.202000	0.31878	4.001000	0.41074	0.594000	0.32500	0.896000	0.31333	0.353000	0.24482	0.567000	0.30579	0.0:0.7965:0.1329:0.0705	10.771	0.45518	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2267.33	38	chr15	29718486	.	C	T	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=879;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.05;SOR=0.756	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1434	18	0	1	0
chr15	29726877	29726877	T	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001330239:exon17:c.A2215G:p.M739V,TJP1:NM_001355013:exon17:c.A2227G:p.M743V,TJP1:NM_001355014:exon17:c.A2215G:p.M739V,TJP1:NM_001355015:exon17:c.A2215G:p.M739V,TJP1:NM_003257:exon17:c.A2215G:p.M739V,TJP1:NM_175610:exon17:c.A2215G:p.M739V,TJP1:NM_001301025:exon18:c.A2494G:p.M832V,TJP1:NM_001301026:exon18:c.A2227G:p.M743V,TJP1:NM_001355012:exon18:c.A2494G:p.M832V	.	434	1081	6	1	0	8	0.00368664	.	.	.	3345998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.0513901865445	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs747571925	1.095e-05	1.094e-05	8.167e-06	1.375e-05	0.0005	6.48e-06	5.24e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.698e-06	4.967e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.005	0.72224	D	0.99	0.65571	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	2.35	0.16217	T	-3.24	0.65171	D	0.638	0.68082	-0.8648	0.50915	T	0.147	0.47183	T	9	0.5533914	0.64382	D	0.05139	0.64643	D	0.402	0.71558	0.389	0.41115	0.501370866149	0.49774	0.829721668389469	0.82930	1.20171773198	0.80562	0.812649250031	0.83899	D	0.303143	0.67551	T	0.0403232	0.57090	T	0.022799	0.71811	D	0.802962362766266	0.46555	D	0.949005	0.80370	D	0.72712046	0.79561	0.46507773	0.68955	0.72712046	0.79562	0.46507773	0.68955	-14.333	0.94089	D	.	.	0.611	0.69345	P	.;.;.;.;.	.;.;.;.;.	4.304959	0.65759	24.9	0.99452290338130156	0.65325	0.98800	0.87016	D	AEFBI	0.920790	0.89328	D	0.719137828271329	0.80888	7.394968	0.656739056449338	0.79111	7.014324	0.999999999997347	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.82	5.82	0.92740	7.925000	0.86993	7.905000	0.73745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.192	0.81809	975	0.05339	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1833.33	35	chr15	29726877	.	T	C	1833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=781;ExcessHet=0;FS=3.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.353;SOR=0.64	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	36	chr15	30089711	.	C	G	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.795;DP=662;ExcessHet=0.119;FS=3.674;InbreedingCoeff=-0.0523;MLEAC=2;MLEAF=0.053;MQ=25.47;MQRankSum=-0.325;QD=12.38;ReadPosRankSum=1.8;SOR=0.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	17	0	2	0
chr15	30145036	30145036	G	A	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon17:c.G1544A:p.G515E	.	249	1272	1	0	0	1	0.000392927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00444865462918	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319959741	1.129e-05	7.884e-06	1.455e-05	8.104e-06	1.359e-05	6.06e-06	4.43e-06	6.87e-06	5.01e-06	0	0	5.315e-05	0	0	0	1.359e-05	0	0	2.67e-05	1.542e-05	5.015e-05	0	4.644e-05	4.43e-06	1.66e-06	7.7e-06	2.88e-06	0	0	0	0	0	0	0	4.644e-05	0	0	0.124	0.27426	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	0.08898	T	-2.94	0.61435	D	0.284	0.32148	.	.	.	.	.	.	.	0.431943	0.57548	T	0.004449	0.10906	T	.	.	.	.	0.723893953802	0.72145	0.2119452817309904	0.21110	3.4135721607	0.99707	.	.	.	.	.	.	-0.187483	0.22628	T	-0.507083	0.21615	T	.	.	.	.	.	.	0.18784547	0.40257	0.20627046	0.44834	0.18784547	0.40257	0.20627046	0.44833	-3.892	0.22182	T	.	.	0.191	0.40952	B	.	.	2.233577	0.28512	17.82	0.73301078209160153	0.10278	0.90697	0.52091	D	AEFI	0.676533	0.64154	D	.	.	.	.	.	.	0.00335484155542011	0.10072	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	1.48	0.21900	7.256000	0.77768	5.185000	0.47878	0.215000	0.18024	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	8.924	0.34792	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	392.73	37	chr15	30145036	.	G	A	392.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.33;DP=539;ExcessHet=0;FS=5.05;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.028;MQ=33.22;MQRankSum=-0.285;QD=9.13;ReadPosRankSum=0.88;SOR=0.223	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	17	0	1	1
chr15	30145531	30145531	C	G	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon19:c.C1860G:p.F620L	.	490	1021	10	1	0	12	0.00584226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00393936544046	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs200445157	0.0016	0.0033	0.0014	0.0018	0.0059	0.0016	0.0015	0.0054	0.0052	0.0008	0.0011	0.0029	0.0001	0.0003	0.0059	0.0014	0.0016	0.0059	0.0024	0.0032	0.0024	0.0023	0.0066	0.0022	0.0021	0.0046	0.0040	0.0013	0	0.0021	0.0034	0.0002	0.0005	0.0109	0.0029	0.0050	0.0066	0.141	0.25560	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29	0.35775	T	-3.2	0.64710	D	0.445	0.48319	.	.	.	.	.	.	.	0.034193397	0.01619	T	0.003939	0.09305	T	.	.	.	.	0.308613300994	0.30479	0.4224300488599057	0.42160	2.02551538596	0.94040	.	.	.	.	.	.	-0.288926	0.09744	T	-0.652799	0.08759	T	.	.	.	.	.	.	0.09299209	0.21829	0.105632715	0.25396	0.09299209	0.21829	0.105632715	0.25396	-4.254	0.27527	T	.	.	0.563	0.67335	A	.	.	1.329378	0.17347	13.11	0.8156657667198649	0.13749	0.43590	0.27132	N	AEFI	0.039710	0.05805	N	.	.	.	.	.	.	1.13440779514145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	0.461	0.15901	0.863000	0.27567	-0.477000	0.08942	0.193000	0.17869	1.000000	0.71638	0.036000	0.21445	0.003000	0.05239	0.0:0.6954:0.0:0.3046	3.366	0.06786	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	31.72	39	chr15	30145531	.	C	G	31.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.655;DP=614;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=33.39;MQRankSum=-0.622;QD=1.06;ReadPosRankSum=-2.9;SOR=2.165	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	17	0	1	1
chr15	30557996	30557996	A	G	exonic	GOLGA8Q	.	nonsynonymous SNV	GOLGA8Q:NM_001355476:exon10:c.A731G:p.H244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000340525874517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07	0.20387	T	-3.79	0.71639	D	0.14	0.13911	.	.	.	.	.	.	.	0.11473575	0.21596	T	3.41E-4	0.00039	T	.	.	.	.	0.0482279557977	0.04254	0.17158458308454813	0.17078	0.358408927163	0.37553	.	.	.	.	.	.	-0.318667	0.07007	T	-0.69552	0.06074	T	.	.	.	0.365463	0.08501	T	0.12129342	0.28525	0.1378247	0.32933	0.12129342	0.28525	0.1378247	0.32932	-5.842	0.44939	T	.	.	0.086	0.10642	B	.	.	0.249798	0.06291	2.749	0.37915187181542837	0.02527	0.01612	0.05219	N	AEFI	0.041146	0.06216	N	.	.	.	.	.	.	1.52299523313829E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.861	-1.04	0.09555	1.417000	0.34378	-0.177000	0.11169	0.305000	0.19019	0.699000	0.28616	0.000000	0.08366	0.002000	0.04165	0.6898:0.3102:0.0:0.0	4.842	0.12857	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	97.73	33	chr15	30557996	.	A	G	97.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.63;DP=551;ExcessHet=0;FS=0;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.028;MQ=24;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.88;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1369	17	0	1	1
chr15	30608689	30608689	A	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.A524C:p.Q175P,GOLGA8T:NM_001355469:exon8:c.A524C:p.Q175P	.	441	1072	9	0	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048349028054	.	0.000599042	0.0004	0	0	0	0	3.137e-05	0	0.0021	0.0001153	3	26028	rs528697991	0.0002	0.0002	8.336e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	2.286e-05	0	0	0	0.0007	8.49e-06	0.0001	0.0022	6.796e-05	7.237e-05	3.983e-05	9.748e-05	0.0017	3.63e-05	2.799e-05	0.0009	0.0006	0	0	6.713e-05	0	0	0	0.0035	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999976	0.18612	N	3.375	0.91388	M	1.58	0.29085	T	-4.37	0.77061	D	0.359	0.40063	.	.	.	.	.	.	.	0.019641727	0.00441	T	0.004835	0.12098	T	.	.	.	.	0.0716867268079	0.06686	0.4793366454140128	0.47853	0.0943749820084	0.10650	.	.	.	0.311943	0.68380	T	-0.455482	0.01048	T	-0.451672	0.27513	T	.	.	.	0.823318	0.48387	T	0.29349217	0.52315	0.3471876	0.60377	0.29349217	0.52315	0.3471876	0.60376	-8.634	0.65313	D	.	.	0.367	0.57640	A	.	.	2.104746	0.26779	17.24	0.9615815482293687	0.28890	0.00181	0.01060	N	AEFI	0.072525	0.14477	N	.	.	.	.	.	.	1.72060249256143E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.883000	0.27838	3.870000	0.40183	0.140000	0.17674	0.071000	0.22100	1.000000	0.68203	0.012000	0.09680	0.9995:0.0:5.0E-4:0.0	4.575	0.11623	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	37	chr15	30608689	.	A	C	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.208;DP=1489;ExcessHet=0;FS=4.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-6.487;QD=7.84;ReadPosRankSum=-0.197;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,32:128:99:0|1:30608689_A_C:1017,0,3902:30608689	18	0	1	0
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N,GOLGA8T:NM_001355469:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	52.12	72	chr15	30608747	.	G	C	52.12	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.832;DP=1462;ExcessHet=0;FS=108.898;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.029;MQ=41.72;MQRankSum=1.28;QD=0.52;ReadPosRankSum=1.15;SOR=7.52	GT:AD:DP:GQ:PL	0/0:92,22:114:26:0,26,1734	16	0	1	2
chr15	30614278	30614278	T	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon18:c.T1700C:p.L567P,GOLGA8T:NM_001355469:exon18:c.T1700C:p.L567P	.	166	1344	12	0	0	12	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00521074945836	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751050580	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0022	0.0018	3.129e-05	0.0018	0	2.71e-05	5.275e-05	0.0036	0.0002	0.0004	0.0006	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0023	0.0020	4.881e-05	0	0.0030	0.0003	0	0	0	0.0002	0.0010	0.0006	0.07	0.35349	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.919864	0.36646	D	2.36	0.67893	M	1.33	0.35031	T	-5.46	0.85541	D	0.251	0.28381	.	.	.	.	.	.	.	0.03756544	0.02119	T	0.005211	0.13279	T	.	.	.	.	0.369682402691	0.36581	0.3928589694864999	0.39200	4.073624099	0.99889	.	.	.	0.040787	0.25642	T	-0.489659	0.00652	T	-0.481065	0.24334	T	.	.	.	0.730627	0.34608	T	0.6340144	0.74512	0.57270443	0.75252	0.6340144	0.74513	0.57270443	0.75252	-2.09	0.03541	T	.	.	0.135	0.29228	B	.	.	2.013793	0.25593	16.82	0.99056653295261643	0.51390	0.00768	0.03170	N	AEFI	0.075431	0.15147	N	.	.	.	.	.	.	1.24580606210035E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.049000	0.13983	-0.871000	0.07103	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.0:5.0E-4:0.0:0.9995	4.588	0.11685	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	764.33	33	chr15	30614278	.	T	C	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=739;ExcessHet=0;FS=4.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.38;MQRankSum=1.04;QD=10.33;ReadPosRankSum=0.901;SOR=1.362	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1210	18	0	1	0
chr15	31160940	31160940	C	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon1:c.G20A:p.G7D	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0177060293013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.955959	0.26316	N	.	.	.	0.7	0.51474	T	-0.48	0.15379	N	0.124	0.11626	-0.9624	0.38723	T	0.127	0.43380	T	6	0.17611736	0.32579	T	0.017706	0.39515	T	0.038	0.09825	0.219	0.14078	0.425028116352	0.42120	0.2694766976607667	0.26860	0.327312460681	0.34869	0.573286354542	0.49142	T	.	.	.	-0.137726	0.30252	T	-0.435611	0.29300	T	0.875942945480347	0.52582	D	0.451655	0.12799	T	.	.	.	.	.	.	.	.	-5.267	0.39615	T	.	.	0.354	0.56863	A	.	.	2.654911	0.34573	19.66	0.99531011516648848	0.69901	0.19272	0.20596	N	AEFDBI	0.105705	0.21114	N	0.0586659922581688	0.44542	2.726341	0.0504690576014229	0.42093	2.54017	0.618040901578145	0.21861	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.89	3.95	0.44952	2.372000	0.43911	2.627000	0.33669	0.589000	0.31548	0.998000	0.41325	0.979000	0.30280	0.560000	0.30412	0.0:0.6294:0.259:0.1116	5.904	0.18225	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	77	chr15	31160940	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=788;ExcessHet=0;FS=8.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.024;SOR=1.609	GT:AD:DP:GQ:PL	0/1:38,31:69:99:765,0,979	18	0	1	0
chr15	32168187	32168187	C	G	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.C1238G:p.S413C,CHRNA7:NM_001190455:exon10:c.C1325G:p.S442C	Schizophrenia, neurophysiologic defect in	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630	0.136599678341	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343650360	6.95e-07	6.841e-07	1.38e-06	0	9.072e-07	0	0	.	.	0	0	0	0	0	0	9.072e-07	0	0	0	6.618e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.074	0.35165	T	0.022	0.59159	D	0.998	0.73220	D	0.905	0.64260	P	0.001986	0.37503	N	0.229426	0.999854	0.51042	D	1.71	0.44315	L	-1.93	0.84842	D	-2.11	0.48184	N	0.254	0.34981	0.337	0.88131	D	0.652	0.87873	D	10	0.73251075	0.74395	D	0.137	0.81909	D	0.630	0.85769	0.59	0.71874	0.865308800367	0.86400	0.4369092449994551	0.43607	.	.	0.774800777435	0.78144	T	0.70515	0.91544	D	0.176415	0.71712	D	0.0359029	0.72660	D	0.594984352588654	0.36202	D	0.876912	0.58964	D	0.14582294	0.33409	0.12932163	0.31097	0.14582294	0.33409	0.12932163	0.31096	-4.772	0.35600	T	.	.	0.086	0.11027	B	.;.;.;.;.	.;.;.;.;.	4.633122	0.73682	26.0	0.9922705568313227	0.56089	0.97886	0.77870	D	AEFI	0.723814	0.67332	D	0.517276928022546	0.68112	5.172492	0.457616047410156	0.65207	4.794785	0.0141653759506118	0.12562	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	3.85	3.85	0.43556	2.972000	0.48948	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	14.102	0.64590	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	38	chr15	32168187	.	C	G	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1036;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.1;MQRankSum=-2.191;QD=3.95;ReadPosRankSum=0.414;SOR=0.677	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1467	18	0	1	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K,CHRNA7:NM_001190455:exon10:c.G1441A:p.E481K	Schizophrenia, neurophysiologic defect in	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.023046	0.000000	0.026786	0.013514	0.250000	0.031250	0.019737	0.014085	0.02632	183.33	30	chr15	32168303	.	G	A	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.78;MQRankSum=-0.646;QD=2.62;ReadPosRankSum=0.144;SOR=0.057	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr15	32393122	32393122	G	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon18:c.C1637G:p.A546G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0216559344746	.	.	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs879383152	0.0073	0.0087	0.0074	0.0073	0.0082	0.0072	0.0071	0.0080	0.0079	0.0010	0.0018	0.0028	0	0.0166	0.0023	0.0082	0.0067	0.0030	0.0089	0.0096	0.0093	0.0085	0.0141	0.0085	0.0084	0.0133	0.0130	0.0018	0	0.0054	0.0041	0	0.0195	0	0.0141	0.0067	0.0044	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.175	0.18784	-0.9435	0.42057	T	0.134	0.44681	T	6	0.007226914	0.00164	T	0.021656	0.44458	T	0.101	0.28911	.	.	.	.	0.078227242615028	0.07758	2.81491841806	0.98944	.	.	.	.	.	.	-0.451879	0.01101	T	-0.428036	0.30158	T	0.0307605207773281	0.02108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33249	B	.	.	2.112588	0.26887	17.27	0.83971478146517509	0.15024	0.36640	0.25579	N	AEFI	0.145436	0.26865	N	-0.437548910992265	0.24165	1.302847	-0.644985882073313	0.18343	0.9794797	1.40905294310266E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.66	0.714	0.17336	1.249000	0.32441	0.862000	0.22237	0.228000	0.18124	0.890000	0.31197	0.000000	0.08366	0.001000	0.02609	0.1932:0.0:0.5076:0.2992	2.277	0.03853	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	197.33	37	chr15	32393122	.	G	C	197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=638;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.05;MQRankSum=2.07;QD=6.58;ReadPosRankSum=-0.286;SOR=1.329	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,701	18	0	1	0
chr15	32396487	32396487	G	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon12:c.C931G:p.L311V	.	455	1063	3	1	0	5	0.00234632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0716571624935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440004475	0.0002	0.0012	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0002	0.0003	0.0002	0.0009	0.0003	0.0003	0.0002	0.0002	0.0002	2.855e-05	0.0002	4.152e-05	1.474e-05	4.702e-05	9.67e-06	5.5e-06	1.248e-05	6.46e-06	2.568e-05	0	0	0	0	0	0	4.702e-05	0	0	0.024	0.47745	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.506312	0.31783	D	.	.	.	.	.	.	-2.43	0.53258	N	0.205	0.22742	-0.5169	0.68031	T	0.222	0.58601	T	6	0.21699679	0.38299	T	0.071657	0.71328	D	0.112	0.31546	.	.	0.0846915920261	0.08053	0.5320233012513216	0.53127	3.4135721607	0.99707	.	.	.	.	.	.	-0.122353	0.32741	T	-0.413528	0.31820	T	0.575798869132996	0.35457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	2.518348	0.32539	19.07	0.9962241067769112	0.75533	0.76460	0.37501	D	AEFI	0.080106	0.16191	N	-0.26154613127991	0.30644	1.710678	-0.423788052482703	0.24301	1.329991	1.64438826947561E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	1.66	0.23081	1.946000	0.39909	3.792000	0.39834	0.195000	0.17883	0.984000	0.35821	1.000000	0.68203	0.152000	0.20376	0.0:0.0:1.0:0.0	9.336	0.37213	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	121.33	13	chr15	32396487	.	G	C	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=718;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.95;MQRankSum=-0.263;QD=9.33;ReadPosRankSum=0.836;SOR=0.16	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr15	32401403	32401403	T	A	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon2:c.A121T:p.S41C	.	645	845	23	9	0	41	0.0236857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00678986209873	.	.	0.0042	0	0	0	0	0.0079	0	0	9.7e-05	15	154602	rs200674603	0.0094	0.0100	0.0087	0.0101	0.0203	0.0092	0.0092	0.0194	0.0191	0.0014	0.0036	0.0050	0.0001	0.0052	0.0086	0.0094	0.0108	0.0203	0.0069	0.0070	0.0073	0.0065	0.0145	0.0065	0.0063	0.0110	0.0098	0.0020	0.0101	0.0060	0.0066	0.0003	0.0025	0	0.0099	0.0071	0.0145	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.58	0.69118	D	0.164	0.17278	-0.8777	0.49943	T	0.141	0.46072	T	6	0.0053943694	0.00118	T	0.00679	0.17953	T	0.048	0.13305	.	.	0.0138822411134	0.00435	0.14018493067096638	0.13941	3.36241963825	0.99660	.	.	.	.	.	.	-0.181247	0.23550	T	-0.498125	0.22542	T	0.0572239640983347	0.06724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20469	B	.	.	1.592556	0.20368	14.72	0.97014196961605725	0.31997	0.01335	0.04597	N	AEFI	0.037893	0.05280	N	-0.682610803543696	0.16517	0.8422463	-0.961490719195059	0.10657	0.5381564	4.01112703668882E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.68	-2.84	0.05408	0.017000	0.13294	-0.444000	0.09141	0.204000	0.17941	0.002000	0.15269	0.000000	0.08366	0.155000	0.20479	0.0:0.3897:0.2715:0.3388	3.195	0.06234	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	926.39	34	chr15	32401403	.	T	A	926.39	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.422;DP=560;ExcessHet=0;FS=3.979;InbreedingCoeff=0.7741;MLEAC=2;MLEAF=0.053;MQ=37.27;MQRankSum=0.051;QD=26.47;ReadPosRankSum=-1.338;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1165	18	1	0	0
chr15	32798936	32798936	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon15:c.G3329A:p.R1110Q,FMN1:NM_001277313:exon19:c.G3998A:p.R1333Q	.	418	1101	2	1	0	4	0.00181324	.	.	.	2230602	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00361462568437	8.3e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs374934202	0.0001	0.0001	9.669e-05	0.0001	0.0003	9.743e-05	9.221e-05	0.0001	0.0001	2.99e-05	0.0002	0	0	1.873e-05	0.0003	0.0001	0.0001	1.163e-05	0.0001	0.0001	0.0002	6.737e-05	0.0002	7.587e-05	6.29e-05	0.0002	0.0001	0	0	6.553e-05	0	0	0	0	0.0002	0	0	0.52	0.18308	T	0.213	0.31326	T	0.1	0.25713	B	0.004	0.10090	B	0.076259	0.21174	N	0.550760	.	.	.	0.08	0.08321	N	2.28	0.17271	T	0.17	0.05125	N	0.104	0.15609	-1.0659	0.10339	T	0.031	0.13242	T	9	0.048465967	0.04302	T	0.003615	0.08278	T	0.038	0.09825	.	.	0.26547132957	0.26150	0.09074224856700681	0.09007	0.0235483060594	0.02391	0.521874725819	0.41890	T	0.03772	0.24578	T	-0.530889	0.00379	T	-0.704169	0.05601	T	0.0438501879615307	0.04393	T	.	.	.	0.050081808	0.08992	0.08240382	0.18804	0.050081808	0.08991	0.08240382	0.18803	-1.102	0.01348	T	.	.	0.070	0.04002	B	.;.;.;.	.;.;.;.	2.507369	0.32374	19.02	0.95530252334106969	0.27163	0.30263	0.24037	N	AEFBCI	0.139780	0.26148	N	-0.58577652984035	0.19375	1.013578	-0.458445868299225	0.23309	1.270489	0.98061730595948	0.30157	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.86	3.99	0.45527	0.354000	0.19885	0.267000	0.16613	-0.202000	0.08738	0.052000	0.21487	0.002000	0.18203	0.993000	0.69303	0.0:0.7928:0.0:0.2072	10.457	0.43745	964	0.07719	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	824.33	41	chr15	32798936	.	C	T	824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.389;DP=728;ExcessHet=0;FS=4.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-1.831;SOR=1.157	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	18	0	1	0
chr15	32804297	32804297	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon14:c.G3295C:p.E1099Q,FMN1:NM_001277313:exon18:c.G3964C:p.E1322Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0058766069349	.	.	3.594e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs773036224	1.411e-06	2.052e-06	0	2.855e-06	1.244e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.192e-07	0	1.244e-05	6.579e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.312	0.25255	T	0.063	0.45110	T	0.98	0.59353	D	0.824	0.59271	P	0.002107	0.37227	N	0.310922	.	.	.	1.32	0.33002	L	2.29	0.17113	T	-1.18	0.34596	N	0.291	0.41952	-1.0087	0.27323	T	0.056	0.23639	T	9	0.22612774	0.39459	T	0.005877	0.15310	T	0.074	0.21613	0.234	0.16305	0.572793788404	0.56946	0.15963293638142878	0.15884	0.144351179167	0.16299	0.587209939957	0.51101	T	0.051905	0.29011	T	-0.22785	0.16933	T	-0.565067	0.15904	T	0.819598972797394	0.47742	D	.	.	.	0.11430355	0.26985	0.10274673	0.24633	0.11430355	0.26985	0.10274673	0.24633	-7.631	0.58527	D	.	.	0.138	0.33179	B	.;.;.;.	.;.;.;.	4.542979	0.71428	25.7	0.98992301036751473	0.49963	0.91294	0.53244	D	AEFBI	0.486448	0.52561	N	0.396071171228634	0.61209	4.318915	0.416152429629404	0.62570	4.474724	0.999948950719699	0.47345	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.49	4.57	0.55860	3.400000	0.52341	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.849:0.0:0.151	10.408	0.43461	964	0.07719	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	400.33	33	chr15	32804297	.	C	G	400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=690;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-2.012;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	18	0	1	0
chr15	32968717	32968717	-	T	exonic	FMN1	.	frameshift insertion	FMN1:NM_001103184:exon4:c.2314dupA:p.R772Kfs*17,FMN1:NM_001277313:exon8:c.2983dupA:p.R995fs	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6616.29	34	chr15	32968717	.	C	CT	6616.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=1163;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.484;SOR=0.684	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,107,1602	18	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	7	0	8	4
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	3466.35	104	chr15	33066579	.	C	T	3466.35	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,0:90:99:0|1:33066576_A_G:401,620,3629:33066576	14	0	1	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,17:90:99:0|1:33066576_A_G:401,0,2957:33066576	2	0	9	8
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:72:.:.:0,72,1547:.	10	0	5	4
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4641.83	36	chr15	33088938	.	T	C	4641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.237;DP=967;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.82;SOR=0.713	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	17	0	2	0
chr15	33153747	33153747	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1168T:p.R390W,FMN1:NM_001277314:exon4:c.C1168T:p.R390W	.	425	1081	14	2	0	18	0.00825688	.	.	.	1457925	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0150364903957	.	0.000399361	0.0006	0	0	0	0	0.0013	0	0.0004	0.0001294	20	154602	rs144328486	0.0005	0.0005	0.0005	0.0006	0.0146	0.0005	0.0005	0.0120	0.0111	0.0005	0.0012	0.0003	2.798e-05	2.947e-05	0.0146	0.0004	0.0012	0.0008	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	0.0003	0	0.0008	0.0003	0	0	0.0068	0.0005	0.0038	0.0006	0.002	0.72154	D	0.018	0.65728	D	.	.	.	.	.	.	0.061616	0.22159	N	0.336013	.	.	.	0.345	0.11182	N	0.88	0.46028	T	-2.39	0.52612	N	0.189	0.24883	-0.8788	0.49856	T	0.081	0.31943	T	8	0.023217082	0.00601	T	0.015036	0.35538	T	0.074	0.21613	.	.	0.548571244948	0.54512	0.06263845914463202	0.06203	.	.	0.210625976324	0.00838	T	0.274527	0.64702	T	-0.452316	0.01095	T	-0.488617	0.23535	T	0.0337495431303978	0.02596	T	.	.	.	0.10736155	0.25386	0.15047814	0.35488	0.10736155	0.25386	0.15047814	0.35487	-5.954	0.46869	T	.	.	0.081	0.17911	B	.;.;.;.	.;.;.;.	3.919247	0.57202	23.8	0.99894743611932291	0.96819	0.94694	0.62009	D	AEFBI	0.439958	0.49871	N	0.155373536887906	0.49066	3.111252	0.188358737837696	0.49208	3.126835	0.999992957311888	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	4.53	0.55009	2.462000	0.44706	4.808000	0.45020	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.240000	0.23001	0.0:0.1326:0.7299:0.1375	11.790	0.51339	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3445.33	33	chr15	33153747	.	G	A	3445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=858;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.255;SOR=0.6	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	18	0	1	0
chr15	33630030	33630030	A	G	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon22:c.A2770G:p.T924A,RYR3:NM_001243996:exon22:c.A2770G:p.T924A	.	.	.	.	.	.	.	.	.	.	.	463997	not_provided|Epileptic_encephalopathy|RYR3-related_disorder|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.464	0.0438866552541	0.0003	0.000599042	0.0008	0.0004	0.0019	0	0.0003	0.0012	0	0	0.0004528	70	154602	rs199638420	0.0004	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0004	0.0008	0.0061	0	0.0002	0.0033	0.0003	0.0011	1.211e-05	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	0.0003	0	0.0012	0.0058	0	9.411e-05	0	0.0005	0.0005	0	0.933	0.02378	T	.	.	.	0.267	0.38961	B	0.181	0.35894	B	0.000056	0.53742	D	0.124126	0.99998	0.54805	D	1.38	0.34346	L	-2.79	0.91019	D	-1.23	0.31170	N	0.412	0.48319	-0.0569	0.81059	T	0.537	0.82897	D	10	0.015210718	0.00319	T	0.043887	0.61211	D	0.464	0.76023	.	.	0.830309762593	0.82870	0.3149664594061715	0.31409	0.245001024247	0.27023	0.700730919838	0.67249	T	0.33437	0.70411	T	-0.216099	0.18527	T	-0.15201	0.59065	T	0.0484008206615471	0.05216	T	0.771723	0.40231	T	0.3227117	0.54868	0.26036417	0.51798	0.3227117	0.54868	0.26036417	0.51797	-4.953	0.36325	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.812258	0.37022	20.4	0.59173143072953882	0.06162	0.97235	0.73490	D	AEFGBI	0.752116	0.69272	D	0.0857893457324524	0.45800	2.830575	0.243252921868917	0.52266	3.402644	0.999990810050714	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	5.35	0.76297	5.796000	0.68735	4.211000	0.42532	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	1.0:0.0:0.0:0.0	15.503	0.75449	952	0.10565	Ryanodine receptor Ryr;.;Ryanodine receptor Ryr;Ryanodine receptor Ryr;Ryanodine receptor Ryr	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.010101	0.010870	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	1080.33	34	chr15	33630030	.	A	G	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=709;ExcessHet=0;FS=5.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.558;SOR=0.309	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1094,0,1006	18	0	1	0
chr15	33662829	33662829	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5299A:p.E1767K,RYR3:NM_001243996:exon35:c.G5299A:p.E1767K	.	1	1490	31	0	0	31	0.0102956	.	.	.	464844	not_provided|Epileptic_encephalopathy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0020	0.0217652	0.0103	0.0065	0.0024	0.0019	0	0.0007	0.0033	0.0657	0.0092366	1428	154602	rs115321092	0.0045	0.0045	0.0029	0.0061	0.0591	0.0044	0.0044	0.0577	0.0571	0.0073	0.0023	0.0006	0.0009	1.875e-05	0.0137	0.0005	0.0065	0.0591	0.0044	0.0044	0.0034	0.0055	0.0667	0.0041	0.0040	0.0607	0.0584	0.0059	0	0.0018	0.0003	0.0021	0	0.0204	0.0007	0.0057	0.0667	0.324	0.13392	T	.	.	.	0.0	0.14655	B	0.002	0.10090	B	0.001534	0.38731	N	0.209134	0.949247	0.37644	D	1.845	0.48678	L	-0.66	0.72348	T	-2.06	0.47175	N	0.415	0.48042	-0.7699	0.56863	T	0.201	0.55709	T	10	0.002911806	0.00047	T	.	.	.	0.102	0.29158	.	.	.	.	0.3836759754911942	0.38282	0.205256797494	0.22944	0.510617077351	0.40309	T	0.40382	0.76046	T	-0.421719	0.01668	T	-0.331432	0.41309	T	0.0167800299287915	0.00433	T	0.79742	0.44372	T	0.21914956	0.44439	0.19626871	0.43349	0.21914956	0.44439	0.19626871	0.43348	-4.184	0.26519	T	.	.	0.078	0.06663	B	.;.;.;.;.	.;.;.;.;.	3.303543	0.45360	22.1	0.99673792313867215	0.78782	0.97066	0.72492	D	AEFI	0.700273	0.65734	D	0.00596074806607942	0.42126	2.532347	0.170316099802096	0.48227	3.041632	0.173261728016299	0.17767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	5.511000	0.66742	8.635000	0.77869	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.696	0.91562	931	0.16308	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.020202	0.024457	0.029240	0.000000	0.034483	0.015244	0.026515	0.05263	5214.83	38	chr15	33662829	.	G	A	5214.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.02;DP=1084;ExcessHet=0.119;FS=0.763;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.41;SOR=0.638	GT:AD:DP:GQ:PL	0/1:96,107:203:99:2868,0,2550	17	0	2	0
chr15	33857882	33857882	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001243996:exon98:c.G14095A:p.E4699K,RYR3:NM_001036:exon99:c.G14110A:p.E4704K	.	0	1507	13	2	0	17	0.00560871	.	.	.	464954	not_provided|Epileptic_encephalopathy|RYR3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.535	.	0.0070	0.00199681	0.0085	0.0014	0.0032	0	0.0185	0.0110	0.0134	0.0060	0.0081176	1255	154602	rs182257230	0.0092	0.0092	0.0093	0.0091	0.0103	0.0091	0.0090	0.0101	0.0100	0.0013	0.0033	0.0010	5.038e-05	0.0151	0.0021	0.0103	0.0082	0.0060	0.0071	0.0071	0.0071	0.0071	0.0110	0.0068	0.0066	0.0103	0.0101	0.0017	0.0011	0.0055	0.0009	0	0.0130	0	0.0110	0.0081	0.0046	0.053	0.38863	T	0.088	0.40586	T	0.518	0.37483	P	0.166	0.35067	B	0.000003	0.62929	D	0.059025	0.999979	0.53665	D	2.02	0.55341	M	-2.98	0.92057	D	-2.07	0.47344	N	0.614	0.63035	0.431	0.89553	D	0.653	0.87920	D	10	0.009003162	0.00204	T	.	.	.	0.535	0.80486	.	.	0.725665454109	0.72323	0.8827005318070547	0.88238	0.905758439191	0.70838	0.836199164391	0.87514	D	0.87149	0.97228	D	-0.180672	0.23636	T	-0.0206229	0.68988	D	0.0183165658988414	0.00550	T	0.932107	0.74696	D	0.27215397	0.50286	0.23718351	0.49009	0.27215397	0.50286	0.23718351	0.49008	-7.169	0.55259	T	.	.	0.091	0.12938	B	.;.;.;.;.;.	.;.;.;.;.;.	4.030585	0.59597	24.1	0.99811573321092328	0.89531	0.98951	0.89073	D	AEFBI	0.904754	0.85544	D	0.440036351321565	0.63639	4.60171	0.512440853527715	0.68826	5.273985	0.999999999998712	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.995000	0.87962	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:1.0:0.0	18.317	0.90165	848	0.35897	Ion transport domain;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	907.33	33	chr15	33857882	.	G	A	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=734;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.831;SOR=0.94	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	18	0	1	0
chr15	34103880	34103880	T	-	exonic	PGBD4	.	frameshift deletion	PGBD4:NM_152595:exon1:c.1349delT:p.W451Gfs*15	.	435	1078	8	1	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	9.615e-05	0.0015	0	0	0.0001	0	0.0010	0.0002717	42	154602	rs750450072	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0004	0	0	0	0.0026	9.802e-05	0.0002	0.0012	7.229e-05	7.223e-05	6.424e-05	8.072e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0	0	0	8.82e-05	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2864.29	205	chr15	34103879	.	GT	G	2864.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=841;ExcessHet=0;FS=6.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.473;SOR=1.031	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	18	0	1	0
chr15	34252364	34252364	C	T	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon8:c.G1094A:p.R365H,SLC12A6:NM_005135:exon9:c.G986A:p.R329H,SLC12A6:NM_133647:exon9:c.G1139A:p.R380H,SLC12A6:NM_001042494:exon10:c.G962A:p.R321H,SLC12A6:NM_001042495:exon10:c.G962A:p.R321H,SLC12A6:NM_001042496:exon10:c.G1112A:p.R371H,SLC12A6:NM_001365088:exon10:c.G1139A:p.R380H	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	688397	not_provided|SLC12A6-related_disorder|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy	MedGen:C3661900|.|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.533	0.0474024242174	.	0.000399361	2.476e-05	0	0	0.0002	0	0	0.0011	0	5.82e-05	9	154602	rs375887656	3.363e-05	4.105e-05	3.553e-05	3.171e-05	0.0024	2.574e-05	2.319e-05	0.0015	0.0012	0	0	0	0.0003	0	0.0024	6.32e-06	0.0003	0	0.0002	0.0002	0.0003	2.709e-05	0.0013	0.0001	8.774e-05	0.0008	0.0007	0	0	0.0013	0	0.0006	0	0	0	0	0.0002	0.165	0.25154	T	0.124	0.36901	T	0.653	0.47514	P	0.147	0.45295	B	0.000841	0.41440	D	0.148153	1	0.81001	D	1.985	0.53793	M	-0.39	0.69158	T	-4.28	0.79998	D	0.713	0.72299	-0.4589	0.70104	T	0.333	0.70059	T	10	0.45761052	0.59087	T	0.047402	0.62906	D	0.533	0.80367	0.797	0.91729	0.650071068344	0.64716	0.9147079550556401	0.91445	1.11383339439	0.78121	0.739474654198	0.72895	T	0.715148	0.91905	D	0.0375478	0.56723	T	0.125026	0.78566	D	0.462193578481674	0.31245	T	0.990788	0.97468	D	0.1921401	0.40870	0.15295672	0.35963	0.1921401	0.40870	0.15295672	0.35963	-8.286	0.63264	D	.	.	0.647	0.70791	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.633285	0.73682	26.0	0.99916187366304976	0.98449	0.99797	0.99532	D	AEFDBI	0.919566	0.89027	D	0.547327777432752	0.69918	5.426014	0.621697969729135	0.76517	6.50588	0.999999999999979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.905000	0.86479	7.684000	0.65448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.428	0.90560	818	0.41518	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.003788	0.02632	616.33	35	chr15	34252364	.	C	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.587;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.04;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	34354554	34354554	C	T	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon5:c.C1154T:p.A385V,NUTM1:NM_001284292:exon6:c.C1184T:p.A395V,NUTM1:NM_175741:exon6:c.C1100T:p.A367V	.	407	1095	19	1	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0150694727848	0.0025	0.000199681	0.0025	0.0004	0.0016	0	0	0.0034	0.0077	0.0027	0.0024062	372	154602	rs149533722	0.0035	0.0035	0.0035	0.0035	0.0059	0.0034	0.0034	0.0043	0.0038	0.0008	0.0014	0.0070	0	0.0002	0.0059	0.0040	0.0029	0.0028	0.0023	0.0023	0.0025	0.0020	0.0038	0.0021	0.0020	0.0035	0.0033	0.0008	0.0022	0.0010	0.0058	0	9.427e-05	0	0.0038	0.0024	0.0015	0.212	0.19639	T	0.247	0.24406	T	1.0	0.90584	D	1.0	0.97372	D	0.000520	0.43753	N	0.101201	0.992827	0.41754	D	1.715	0.44382	L	2.75	0.11622	T	-2.57	0.55501	D	0.691	0.70351	-1.1652	0.00637	T	0.064	0.26349	T	10	0.014915645	0.00313	T	0.015069	0.35586	T	0.143	0.38195	.	.	0.55973633643	0.55634	0.40394355054670594	0.40310	0.389946800184	0.40218	0.512118041515	0.40519	T	0.01496	0.12641	T	-0.361505	0.04045	T	-0.290825	0.45687	T	0.0310295087007935	0.02151	T	0.743726	0.36333	T	0.15332091	0.34759	0.32188246	0.58133	0.15332091	0.34759	0.32188246	0.58132	-6.306	0.48770	T	.	.	0.321	0.56058	B	.;.;.;.	.;.;.;.	3.356031	0.46308	22.3	0.99923255424450752	0.98917	0.89721	0.50369	D	AEFDBI	0.505489	0.53661	D	0.562549965825917	0.70848	5.562431	0.558645873396205	0.72000	5.741514	0.99999509389699	0.74766	0.360534	0.05665	1	0.547309	0.14657	0	0.566861	0.19136	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	4.304000	0.58899	2.246000	0.31650	0.549000	0.26987	0.996000	0.39380	0.979000	0.30280	0.982000	0.59238	0.0:1.0:0.0:0.0	16.268	0.82427	679	0.60090	.;Nuclear Testis  protein, N-terminal;.;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.004076	0.008772	0.000000	0.000000	0.012195	0.007576	0.02632	2296.33	34	chr15	34354554	.	C	T	2296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=809;ExcessHet=0;FS=5.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.77;SOR=1.131	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1409	18	0	1	0
chr15	34356022	34356022	G	T	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon7:c.G1984T:p.A662S,NUTM1:NM_001284292:exon8:c.G2014T:p.A672S,NUTM1:NM_175741:exon8:c.G1930T:p.A644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00377450053977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.319	0.19908	T	0.408	0.35000	B	0.086	0.29521	B	0.372010	0.04368	N	1.414510	1	0.08975	N	1.39	0.34934	L	3.02	0.08986	T	-0.79	0.21860	N	0.105	0.08925	-0.9691	0.37386	T	0.020	0.08500	T	10	0.07971218	0.12856	T	0.003775	0.08775	T	0.037	0.09474	0.22	0.14224	0.323342291347	0.31936	0.03698919136292837	0.03645	0.0706069507822	0.07910	0.263074338436	0.05261	T	0.002528	0.01914	T	-0.266848	0.12111	T	-0.621085	0.11101	T	0.0924661332674758	0.11506	T	0.587441	0.21491	T	0.041757345	0.06208	0.048016254	0.07041	0.041757345	0.06208	0.048016254	0.07041	-2.98	0.09967	T	.	.	0.098	0.18206	B	.;.;.;.	.;.;.;.	0.539141	0.09077	5.860	0.95214376974491266	0.26425	0.20122	0.20923	N	AEFDBI	0.044280	0.07105	N	-0.60786855321428	0.18707	0.9733714	-0.643682009631876	0.18376	0.9813942	0.947028189769161	0.27733	0.475973	0.10046	0	0.547309	0.14657	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.3	2.44	0.28875	0.879000	0.27783	1.317000	0.25577	0.676000	0.76740	0.018000	0.19461	0.026000	0.21063	0.268000	0.23719	0.2793:0.0:0.7207:0.0	6.901	0.23461	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	35	chr15	34356022	.	G	T	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.63;DP=703;ExcessHet=0;FS=3.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.07;SOR=0.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	34363678	34363678	G	T	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon6:c.C694A:p.R232S	.	425	1092	5	0	0	5	0.00228415	.	.	.	2434988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.637	0.130874342683	.	.	0.0001	0	0	0	0	7.492e-05	0	0.0008	0.0001229	19	154602	rs564033666	5.814e-05	5.814e-05	5.173e-05	6.463e-05	0.0007	4.809e-05	4.431e-05	0.0003	0.0003	0	0	0	0	0	0.0007	3.058e-05	0.0001	0.0004	3.945e-05	3.941e-05	3.856e-05	4.037e-05	0.0002	1.716e-05	1.13e-05	1.972e-05	1.124e-05	0	0	6.546e-05	0	0	0	0	5.88e-05	0	0.0002	0.003	0.68238	D	0.007	0.70582	D	0.022	0.18677	B	0.035	0.22741	B	0.000022	0.55875	D	0.114287	0.990209	0.41109	D	2.08	0.57402	M	-3.1	0.92667	D	-4.59	0.78891	D	0.721	0.73735	0.385	0.88873	D	0.740	0.91109	D	10	0.5315964	0.63214	D	0.130874	0.81307	D	0.637	0.86130	.	.	0.865546053866	0.86424	0.8542646263465283	0.85389	0.857722285798	0.68820	0.687583327293	0.65359	T	0.665729	0.90022	D	0.0319727	0.55987	T	0.172313	0.81547	D	0.184523838331309	0.19516	T	0.814119	0.56210	T	0.67819136	0.76872	0.471295	0.69345	0.67819136	0.76873	0.471295	0.69346	-10.513	0.76922	D	.	.	0.550	0.71722	A	.;.	.;.	4.409545	0.68200	25.2	0.98875473068925945	0.47719	0.90495	0.51718	D	AEFDBI	0.617203	0.60347	D	0.0828376337261379	0.45662	2.819093	0.194859121539678	0.49566	3.15814	0.999999481553439	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.49	4.56	0.55644	5.104000	0.64421	7.573000	0.60761	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.6924:0.3076	12.307	0.54230	678	0.60190	Phospholipid/glycerol acyltransferase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1624.33	36	chr15	34363678	.	G	T	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.042;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.377;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr15	34527739	34527739	G	T	exonic	GOLGA8B	.	nonsynonymous SNV	GOLGA8B:NM_001023567:exon24:c.C1705A:p.L569M	.	530	522	272	193	5	663	0.386604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00589071557526	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs2615360	1.918e-05	0.0002	1.729e-05	2.107e-05	0.0006	1.253e-05	1.018e-05	0.0001	4.584e-05	0	0	0	0.0002	0	0.0006	1.247e-05	0	4.401e-05	1.441e-05	9.568e-05	0	2.975e-05	.	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.986	0.02436	T	0.216	0.26226	T	0.274	0.31856	B	0.069	0.27757	B	.	.	.	.	1	0.81001	D	-1.15	0.00907	N	2.07	0.20387	T	0.07	0.06138	N	0.142	0.14196	-0.9779	0.35481	T	0.017	0.07045	T	9	0.029098809	0.01038	T	0.005891	0.15340	T	0.046	0.12618	0.273	0.22369	0.0138822411134	0.00435	0.07135015325646545	0.07072	.	.	0.545414566994	0.45211	T	9.49E-4	0.00494	T	-0.29879	0.08775	T	-0.666967	0.07803	T	0.0356865325654763	0.02925	T	0.0649935	0.01553	T	0.05111713	0.09341	0.035690103	0.02870	0.05111713	0.09340	0.035690103	0.02869	-6.046	0.46662	T	.	.	0.089	0.12084	B	.;.	.;.	-0.580544	0.01625	0.112	0.61060122549322704	0.06615	0.01001	0.03790	N	AEFI	0.036277	0.04807	N	-1.88089906304009	0.00376	0.01614766	-1.86378301963637	0.00576	0.02556432	2.00325496496389E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	1.48	-1.31	0.08749	1.669000	0.37108	-0.470000	0.08985	-2.310000	0.00319	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.0:0.1792:0.225:0.5958	3.483	0.07171	420	0.81451	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	2897.99	34	chr15	34527739	.	G	T	2897.99	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.864;DP=952;ExcessHet=0.0042;FS=51.505;InbreedingCoeff=0.4588;MLEAC=1;MLEAF=0.029;MQ=42.41;MQRankSum=-3.443;QD=8.33;ReadPosRankSum=-2.349;SOR=2.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:14:42:1|1:34527739_G_C:583,583,583:34527739	16	0	1	2
chr15	36892345	36892345	T	C	exonic	MEIS2	.	nonsynonymous SNV	MEIS2:NM_170675:exon12:c.A1262G:p.H421R,MEIS2:NM_170676:exon12:c.A1241G:p.H414R,MEIS2:NM_001220482:exon13:c.A1241G:p.H414R	.	427	1093	2	0	0	2	0.000914077	.	.	.	2817397	MEIS2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.272	0.021678503916	0.0012	.	0.0009	9.615e-05	0.0003	0	0.0003	0.0014	0.0011	6.064e-05	0.0008215	127	154602	rs144548752	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0015	0.0015	0.0003	0.0002	0	0	0.0007	0.0002	0.0016	0.0007	2.319e-05	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0006	0.0013	0.0013	0.0003	0.0011	0	0	0	9.441e-05	0	0.0016	0.0005	0	0.005	0.63226	D	0.261	0.22962	T	0.004	0.12183	B	0.011	0.15521	B	0.000006	0.62929	D	0.062215	0.999979	0.81001	D	2.005	0.54552	M	-2.05	0.86415	D	-1.22	0.30964	N	0.325	0.41656	-0.1163	0.79721	T	0.561	0.84026	D	10	0.03484735	0.01708	T	0.021679	0.44481	T	0.272	0.58758	.	.	0.834606186738	0.83303	0.5803047821872661	0.57959	0.00704794726514	0.00622	0.725051939487	0.70784	T	0.118869	0.43999	T	-0.235569	0.15919	T	-0.117631	0.61995	T	0.0223554864050598	0.00948	T	0.885811	0.61165	D	0.16556661	0.36836	0.14979218	0.35353	0.16556661	0.36836	0.14979218	0.35352	-6.03	0.48397	T	.	.	0.169	0.37159	B	.;.	.;.	3.596776	0.50782	23.0	0.95373893245570551	0.26788	0.96531	0.69605	D	AEFBI	0.734773	0.68080	D	-0.0354681561136709	0.40253	2.387426	0.0990768978011979	0.44503	2.730767	0.999939307415165	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.586423	0.30347	0	0.714379	0.83352	0	.	.	5.34	4.21	0.48984	4.686000	0.61388	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1317:0.0:0.0:0.8683	11.780	0.51281	846	0.36215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1418.33	34	chr15	36892345	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.96;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.682;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1432,0,943	18	0	1	0
chr15	38516315	38516315	C	T	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon6:c.G557A:p.R186K,RASGRP1:NM_001306086:exon6:c.G557A:p.R186K,RASGRP1:NM_005739:exon6:c.G557A:p.R186K	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00353748840412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.34444	T	0.239	0.26631	T	0.112	0.32716	B	0.038	0.33818	B	0.000000	0.84330	D	0.047615	0.995987	0.42956	D	1.675	0.43121	L	1.65	0.27650	T	-1.49	0.36385	N	0.101	0.10198	-1.0841	0.06572	T	0.079	0.31405	T	10	0.26817843	0.44334	T	0.003537	0.08062	T	0.078	0.22779	0.51	0.60693	0.295974979623	0.29207	0.4884033981074137	0.48760	0.428454563186	0.43163	0.749545931816	0.74379	T	0.176913	0.52703	T	-0.212353	0.19049	T	-0.542807	0.18023	T	0.808273255825043	0.46925	D	0.907909	0.67446	D	0.3590222	0.57761	0.31158972	0.57164	0.3590222	0.57761	0.31158972	0.57164	-5.481	0.44566	T	0.19441419139642585	0.25615	0.200	0.42390	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.375652	0.46671	22.3	0.99019889572315856	0.50548	0.89319	0.49712	D	AEFBI	0.554674	0.56542	D	0.0954544814361946	0.46251	2.86833	0.256210739684618	0.53002	3.471572	0.999999996671057	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	5.673000	0.67781	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.912	0.92461	847	0.35998	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	33	chr15	38516315	.	C	T	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=704;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.259;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr15	39770462	39770462	T	G	exonic	FSIP1	.	nonsynonymous SNV	FSIP1:NM_001324338:exon3:c.A275C:p.D92A,FSIP1:NM_152597:exon3:c.A275C:p.D92A	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00998403	0.0053	0.0004	0.0005	0.0001	0	1.509e-05	0.0022	0.0408	0.0045601	705	154602	rs144058034	0.0022	0.0022	0.0012	0.0032	0.0354	0.0021	0.0021	0.0343	0.0339	6.027e-05	7.011e-05	0	7.575e-05	0	0.0014	8.103e-06	0.0025	0.0354	0.0015	0.0015	0.0009	0.0023	0.0465	0.0014	0.0013	0.0415	0.0395	0.0001	0	0.0001	0	0	0	0	4.409e-05	0.0009	0.0465	0.014	0.53172	D	0.148	0.32675	T	0.386	0.34500	B	0.124	0.32546	B	0.476991	0.12210	N	0.729552	1	0.08975	N	2.255	0.64187	M	1.71	0.26737	T	-3.66	0.70067	D	0.136	0.13341	-1.0364	0.18419	T	0.045	0.19397	T	9	0.0021748245	0.00031	T	.	.	.	0.021	0.04004	.	.	0.117506650769	0.11410	0.061670961347377845	0.06107	0.103862167063	0.11752	0.27449542284	0.06737	T	0.027469	0.20108	T	-0.596532	0.00153	T	-0.602493	0.12602	T	0.0307565880713713	0.02107	T	0.608539	0.22995	T	0.22199973	0.44789	0.14327914	0.34057	0.22199973	0.44789	0.14327914	0.34056	-4.068	0.24817	T	.	.	0.098	0.16054	B	.	.	1.826863	0.23215	15.93	0.98248118515486293	0.39548	0.05355	0.11213	N	AEFDBI	0.070889	0.14090	N	-0.647274501835662	0.17539	0.9034116	-0.705082685100506	0.16835	0.8923909	0.998448406744762	0.36977	0.638212	0.43195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	4.6	2.29	0.27658	0.633000	0.24289	0.269000	0.16635	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.680000	0.33542	0.0:0.2071:0.0:0.7929	6.063	0.19074	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1130.33	34	chr15	39770462	.	T	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.82;DP=713;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.819;SOR=0.372	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1401	18	0	1	0
chr15	39978082	39978082	G	A	exonic	EIF2AK4	.	nonsynonymous SNV	EIF2AK4:NM_001013703:exon13:c.G2254A:p.A752T	Pulmonary venoocclusive disease 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00900893798302	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462495433	6.926e-07	5.472e-06	1.378e-06	0	9.089e-07	0	0	.	.	0	0	0	0	0	0	9.089e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.10980	T	0.569	0.08839	T	0.031	0.20130	B	0.006	0.12133	B	0.000023	0.55875	D	0.122777	0.861785	0.35401	D	0.09	0.08384	N	-0.36	0.68754	T	-0.03	0.07444	N	0.08	0.05542	-0.9104	0.46805	T	0.127	0.43380	T	10	0.105217725	0.19438	T	0.009009	0.23726	T	0.048	0.13305	0.362	0.36711	0.809584622637	0.80780	0.37951843133154917	0.37866	0.319986332736	0.34200	0.540204048157	0.44474	T	0.035889	0.23893	T	-0.115333	0.33890	T	-0.403445	0.32983	T	0.580051839351654	0.35620	D	0.845215	0.52386	T	0.07930941	0.18113	0.09676287	0.23005	0.07930941	0.18112	0.09676287	0.23005	-4.414	0.29746	T	.	.	0.070	0.03625	B	.	.	3.563004	0.50139	22.9	0.98716925061465866	0.45142	0.92348	0.55504	D	AEFBI	0.326331	0.42764	N	-0.198059835342151	0.33215	1.881881	0.0557369398727343	0.42349	2.559988	0.999997286355259	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.149000	0.50351	9.236000	0.79390	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0815:0.0:0.9185:0.0	13.519	0.61014	619	0.66147	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	498.33	33	chr15	39978082	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=667;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.87;SOR=0.606	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1027	18	0	1	0
chr15	40266391	40266391	C	T	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon3:c.C754T:p.R252W,BUB1B-PAK6:NM_001128629:exon4:c.C754T:p.R252W,BUB1B-PAK6:NM_001128628:exon5:c.C754T:p.R252W,PAK6:NM_001276718:exon5:c.C754T:p.R252W,PAK6:NM_020168:exon5:c.C754T:p.R252W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0477212368119	.	.	2.623e-05	0	0	0	0	1.598e-05	0	0.0001	1.94e-05	3	154602	rs768072309	4.108e-06	4.104e-06	4.087e-06	4.129e-06	4.64e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	3.827e-05	0	0	0	8.994e-07	0	4.64e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.018	0.64786	D	0.926	0.51467	P	0.226	0.38054	B	0.828997	0.09121	N	0.923198	0.995443	0.23288	N	0.345	0.11182	N	-0.83	0.74583	T	-2.21	0.51646	N	0.339	0.39659	-0.7185	0.59536	T	0.273	0.64443	T	10	0.22184044	0.38919	T	0.047721	0.63052	D	0.282	0.59981	0.32	0.29902	0.858141165372	0.85677	0.16860705132599502	0.18434	0.298554840959	0.32233	0.414137750864	0.27029	T	0.515221	0.82940	D	-0.133775	0.30888	T	-0.226335	0.52126	T	0.388751089240723	0.28517	T	0.910709	0.68343	D	0.1261499	0.29554	0.20576389	0.44761	0.1261499	0.29554	0.20576389	0.44760	-6.811	0.52908	T	.	.	0.102	0.26917	B	.;.;.;.;.;.	.;.;.;.;.;.	4.266102	0.64870	24.8	0.99859088301513732	0.93729	0.79469	0.39385	D	AEFGBI	0.562629	0.57015	D	0.126290466770283	0.47692	2.991342	0.202586091870062	0.49992	3.195884	0.999999982899802	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.631631	0.49550	0	.	.	5.35	5.35	0.76297	0.926000	0.28405	1.101000	0.24069	0.599000	0.40250	0.713000	0.28751	0.002000	0.18203	0.996000	0.76049	0.2131:0.7869:0.0:0.0	14.619	0.68168	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1302.33	37	chr15	40266391	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.019;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1094	18	0	1	0
chr15	40302583	40302583	G	T	exonic	PLCB2	.	nonsynonymous SNV	PLCB2:NM_001284297:exon4:c.C258A:p.N86K,PLCB2:NM_001284298:exon4:c.C258A:p.N86K,PLCB2:NM_001284299:exon4:c.C258A:p.N86K,PLCB2:NM_004573:exon4:c.C258A:p.N86K	Platelet PLC beta-2 deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0157157356247	.	0.000798722	0.0005	0	0	0.0068	0	0	0	6.097e-05	0.000414	64	154602	rs57020474	0.0001	0.0001	0.0001	0.0001	0.0049	0.0001	0.0001	0.0043	0.0041	0	0	0	0.0049	0	0	0	0.0002	1.159e-05	0.0002	0.0002	0.0001	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	6.535e-05	0	0.0062	0	0	0	0	0	0.063	0.36709	T	0.335	0.55341	T	0.101	0.56973	B	0.084	0.52990	B	0.636296	0.10640	N	0.825816	0.999997	0.58761	D	2.135	0.59519	M	0.9	0.45248	T	-2.71	0.57762	D	0.705	0.80180	-0.7297	0.58979	T	0.242	0.60988	T	10	0.012681335	0.00272	T	0.015716	0.36608	T	0.166	0.42578	0.45	0.51121	0.772535888504	0.77045	0.4555934402834101	0.45477	1.03375694082	0.75506	0.702188491821	0.67460	T	0.350074	0.71784	T	-0.453632	0.01075	T	-0.420103	0.31063	T	0.145816126365995	0.16765	T	0.934107	0.76258	D	0.4193611	0.62049	0.35915723	0.61379	0.4193611	0.62049	0.35915723	0.61378	-6.745	0.52626	T	.	.	0.517	0.65355	A	.;.;.;.	.;.;.;.	3.754677	0.53839	23.4	0.99823527836047155	0.90590	0.96683	0.70384	D	AEFBHCI	0.861791	0.77993	D	0.395569881414494	0.61183	4.315852	0.444973883853452	0.64395	4.693671	0.999999999999802	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	4.87	4.87	0.62877	4.058000	0.57176	7.587000	0.61135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.573	0.91095	620	0.66037	PLC-beta, PH domain;.;.;PLC-beta, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.33	38	chr15	40302583	.	G	T	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=706;ExcessHet=0;FS=3.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.682;SOR=1.167	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr15	40339514	40339514	C	T	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon3:c.G361A:p.G121S	.	.	.	.	.	.	.	.	0.0260	0.334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0117577237342	0.0002	.	4.155e-05	0	0	0	0	7.524e-05	0	0	3.23e-05	5	154602	rs370384372	4.174e-05	4.241e-05	4.63e-05	3.714e-05	4.407e-05	3.311e-05	3.002e-05	3.373e-05	3.039e-05	2.987e-05	0	0.0003	2.519e-05	1.879e-05	0	4.407e-05	1.656e-05	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	2.941e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0.0003	0	0	0	2.941e-05	0	0	0.072	0.34982	T	0.035	0.52389	D	1.0	0.90584	D	0.999	0.92359	D	0.000580	0.43250	D	0.101437	0.999982	0.18198	N	.	.	.	1.41	0.33412	T	-1.85	0.43334	N	0.389	0.43029	-0.9896	0.32702	T	0.170	0.51003	T	9	0.1191175	0.22534	T	0.011758	0.29704	T	.	.	.	.	0.539924557274	0.53643	0.2500812422178163	0.24922	0.39604321516	0.40719	.	.	.	0.013045	0.11355	T	-0.242639	0.15015	T	-0.406015	0.32685	T	0.246485372653457	0.22715	T	0.807119	0.45664	T	0.07021777	0.15448	0.066260606	0.13548	0.07021777	0.15447	0.066260606	0.13547	-5.907	0.45495	T	.	.	0.224	0.45569	B	.;.	.;.	3.636176	0.51531	23.1	0.99706990091452352	0.81074	0.09975	0.15605	N	AEFDGBCI	0.121555	0.23627	N	0.134206536114374	0.48063	3.023587	-0.0182410713345883	0.38890	2.297886	0.999998953555299	0.74766	0.733237	0.96898	0	0.588066	0.40923	0	0.491614	0.08109	1	0.621717	0.48901	0	.	.	5.17	1.72	0.23498	1.290000	0.32925	2.736000	0.34426	0.599000	0.40250	0.024000	0.20007	0.990000	0.31317	0.953000	0.50222	0.2057:0.4822:0.1989:0.1131	2.176	0.03627	696	0.58299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	503.33	34	chr15	40339514	.	C	T	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=693;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.721;SOR=1.042	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1239	18	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	6365.0	46	chr15	40356171	.	T	*	6365.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.8;DP=946;ExcessHet=8.9063;FS=19.546;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=59.77;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.169;SOR=1.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:19,0:32:99:0|1:40356171_T_C:380,438,1235:40356171	14	0	3	2
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3591.87	34	chr15	40356195	.	T	*	3591.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.14;DP=879;ExcessHet=5.3738;FS=27.404;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.85;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.704;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:27,0:34:52:0|1:40356171_T_C:52,133,1267:40356171	12	0	3	4
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3486.87	33	chr15	40356196	.	G	*	3486.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=2.59;DP=867;ExcessHet=5.3738;FS=29.501;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.78;ReadPosRankSum=-0.412;SOR=2.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:27,0:34:52:0|1:40356171_T_C:52,133,1267:40356171	12	0	3	4
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3442.87	36	chr15	40356197	.	G	*	3442.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.677;DP=861;ExcessHet=5.3738;FS=31.671;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.56;SOR=2.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:27,0:34:52:0|1:40356171_T_C:52,133,1267:40356171	12	0	3	4
chr15	40368159	40368159	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G2047A:p.A683T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0210675015562	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs749305114	7.189e-07	6.84e-06	1.425e-06	0	2.755e-05	0	0	.	.	0	2.755e-05	0	0	0	0	0	0	0	6.59e-06	6.568e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.23	0.18308	T	0.04	0.50809	D	0.152	0.28062	B	0.037	0.23121	B	0.160414	0.17681	N	0.591860	1	0.08975	N	1.245	0.31408	L	2.7	0.12162	T	-0.14	0.09135	N	0.052	0.02366	-0.9930	0.31827	T	0.013	0.05273	T	10	0.05350566	0.05552	T	0.021068	0.43780	T	0.005	0.00259	0.354	0.35408	0.0297737177859	0.01360	0.40790287443628614	0.40706	0.410529212991	0.41835	0.764175653458	0.76552	T	0.135087	0.46670	T	-0.395931	0.02462	T	-0.686523	0.06592	T	0.133103460073471	0.15666	T	0.644736	0.25622	T	0.04432671	0.07067	0.06278368	0.12336	0.04432671	0.07066	0.06278368	0.12336	-6.118	0.47256	T	.	.	0.115	0.22933	B	.	.	1.303718	0.17060	12.93	0.94737442854187193	0.25425	0.04283	0.09824	N	ALL	0.068986	0.13634	N	-1.08361892093574	0.06944	0.321164	-1.12032096009933	0.07312	0.3552083	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.79	-0.8	0.10347	0.094000	0.14946	0.723000	0.21028	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3149:0.1099:0.2228:0.3524	0.604	0.00701	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	36	chr15	40368159	.	G	A	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=711;ExcessHet=0;FS=4.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.161;SOR=0.26	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	40368321	40368321	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G2209A:p.G737S	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755170	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0376895029809	.	.	0.0002	0	9.154e-05	0	0	0.0001	0	0.0008	0.0001294	20	154602	rs199718039	4.823e-05	4.857e-05	3.288e-05	6.375e-05	0.0005	3.887e-05	3.565e-05	0.0004	0.0003	0	6.771e-05	0	0	0	0.0002	1.624e-05	0.0001	0.0005	4.6e-05	4.597e-05	3.855e-05	5.381e-05	0.0004	2.11e-05	1.527e-05	7.285e-05	3.027e-05	0	0	6.544e-05	0	0	0	0	5.881e-05	0	0.0004	0.321	0.13522	T	0.633	0.07127	T	0.951	0.53992	P	0.323	0.41825	B	0.017175	0.27791	N	0.404867	0.999995	0.08975	N	1.95	0.52479	M	2.78	0.11298	T	-0.28	0.11547	N	0.384	0.42541	-1.0122	0.26228	T	0.021	0.08870	T	10	0.09096968	0.15895	T	0.03769	0.57768	D	0.119	0.33137	0.265	0.21103	0.162503812791	0.15892	0.8155129215957445	0.81507	0.886143667092	0.70005	0.606291651726	0.53793	T	0.152636	0.49312	T	-0.445497	0.01200	T	-0.525984	0.19689	T	0.0652686706654199	0.07971	T	0.666933	0.27600	T	0.04325109	0.06705	0.07122649	0.15228	0.04325109	0.06705	0.07122649	0.15227	-0.545	0.00612	T	.	.	0.076	0.06114	B	.	.	2.495055	0.32200	18.97	0.95584413718310735	0.27297	0.62047	0.31664	D	ALL	0.190491	0.31771	N	-0.203678104312137	0.32982	1.866181	-0.201385532986674	0.31486	1.782398	1.0	0.98316	0.443343	0.08805	1	0.378051	0.05961	2	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.82	3.91	0.44383	1.558000	0.35917	8.631000	0.77853	-0.137000	0.12594	0.872000	0.30832	1.000000	0.68203	0.174000	0.21107	0.084:0.1569:0.7591:0.0	8.225	0.30722	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	36	chr15	40368321	.	G	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.612;DP=940;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.478;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	40415430	40415430	T	C	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.T818C:p.I273T,IVD:NM_001354597:exon9:c.T860C:p.I287T,IVD:NM_001354598:exon9:c.T908C:p.I303T,IVD:NM_001354599:exon9:c.T995C:p.I332T,IVD:NM_001354600:exon9:c.T995C:p.I332T,IVD:NM_001354601:exon9:c.T908C:p.I303T,IVD:NM_002225:exon9:c.T908C:p.I303T	Isovaleric acidemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.253783455197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.102	0.48080	T	.	.	.	.	.	.	0.000098	0.51296	D	0.204155	0.999998	0.58761	D	.	.	.	-3.92	0.96370	D	-2.62	0.58733	D	0.675	0.68255	0.778	0.94134	D	0.827	0.94207	D	10	0.7512314	0.75652	D	0.253783	0.89226	D	0.750	0.91413	.	.	0.851762853563	0.85033	.	.	0.749077089882	0.63671	0.736197829247	0.72413	T	0.768068	0.93770	D	0.205998	0.74454	D	0.0581258	0.74120	D	0.951570212841034	0.63590	D	0.987501	0.95770	D	0.32827845	0.55329	0.3083893	0.56857	0.32827845	0.55329	0.3083893	0.56856	-7.329	0.56401	T	.	.	0.785	0.76587	P	.;.;.	.;.;.	4.772259	0.77261	26.7	0.99755018553039909	0.84615	0.95885	0.66573	D	AEFDBCI	0.922784	0.89826	D	0.222249143025715	0.52279	3.403025	0.355595396835878	0.58846	4.057804	0.999999999997629	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.459000	0.79833	7.926000	0.74773	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:0.0:1.0	15.389	0.74451	659	0.61982	Acyl-CoA dehydrogenase/oxidase C-terminal;.;Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	702.33	36	chr15	40415430	.	T	C	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.434;DP=693;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.89;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,32:71:99:716,0,970	18	0	1	0
chr15	40459821	40459821	G	A	exonic	BAHD1	.	nonsynonymous SNV	BAHD1:NM_001301132:exon2:c.G1357A:p.G453R,BAHD1:NM_014952:exon2:c.G1357A:p.G453R	.	422	1095	5	0	0	5	0.0022779	.	.	.	2732556	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0497670927329	.	.	0.0004	0	0.0006	0	0	0.0002	0	0.0014	0.0002911	45	154602	rs138759345	0.0002	0.0002	0.0002	0.0002	0.0075	0.0002	0.0002	0.0057	0.0051	5.974e-05	0.0004	0.0001	2.519e-05	0	0.0075	9.355e-05	0.0004	0.0012	9.847e-05	9.842e-05	0.0001	8.055e-05	0.0002	6.001e-05	4.876e-05	7.91e-05	5.995e-05	4.81e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.097	0.31834	T	0.31	0.20357	T	0.564	0.38410	P	0.077	0.28532	B	0.000029	0.55875	N	0.158884	0.996761	0.43403	D	0.345	0.11182	N	-0.31	0.68030	T	-0.69	0.21860	N	0.256	0.33140	-0.9052	0.47424	T	0.159	0.49212	T	10	0.03126836	0.01259	T	0.049767	0.63954	D	0.110	0.31079	0.447	0.50629	0.359294529755	0.35537	0.44960988449599926	0.44878	0.435662877071	0.43665	0.351818859577	0.18189	T	0.096423	0.39822	T	-0.402033	0.02245	T	-0.385647	0.35060	T	0.042901280455029	0.04220	T	0.713829	0.32570	T	0.047797047	0.08228	0.07573799	0.16704	0.047797047	0.08227	0.07573799	0.16703	-4.899	0.36193	T	.	.	0.159	0.35119	B	.;.;.	.;.;.	2.975765	0.39681	21.0	0.99589601124968807	0.73513	0.89878	0.50634	D	AEFDBCI	0.448870	0.50392	N	-0.126230763169043	0.36252	2.093014	0.0418880964540686	0.41682	2.508256	0.999999942828869	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	5.17	0.70848	5.930000	0.69823	8.663000	0.77980	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0653:0.0:0.9347:0.0	15.698	0.77276	581	0.69614	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.011696	0.000000	0.008621	0.000000	0.007576	0.02632	1937.33	64	chr15	40459821	.	G	A	1937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.883;DP=966;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.844;SOR=0.846	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	40573915	40573915	G	A	exonic	RPUSD2	.	nonsynonymous SNV	RPUSD2:NM_001286407:exon3:c.G1109A:p.C370Y,RPUSD2:NM_152260:exon3:c.G1292A:p.C431Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00267131442553	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs767620389	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0001	4.96e-06	3.82e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	6.568e-06	1.312e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.559	0.13925	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000103	0.50451	N	0.212802	0.995452	0.42699	D	1.46	0.36832	L	1.53	0.30401	T	-1.13	0.29114	N	0.105	0.24634	-1.0696	0.09501	T	0.041	0.17488	T	10	0.09112328	0.15936	T	0.002671	0.05463	T	0.050	0.13987	0.288	0.24761	0.514923749907	0.51134	0.4467920003399793	0.44597	0.394144287444	0.40573	0.458512097597	0.33106	T	0.027051	0.19894	T	-0.396443	0.02443	T	-0.570571	0.15397	T	0.0445491373538971	0.04520	T	0.49985	0.15613	T	0.029247416	0.02388	0.07567863	0.16684	0.029247416	0.02388	0.07567863	0.16684	-5.024	0.37099	T	.	.	0.097	0.23848	B	.;.	.;.	2.297208	0.29387	18.11	0.71623185596569183	0.09692	0.88970	0.49163	D	AEFGBI	0.251769	0.37158	N	-0.305900207098284	0.28924	1.599466	-0.129436702887851	0.34210	1.965244	0.999983007246186	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	3.37	0.37692	0.808000	0.26813	4.094000	0.41823	-0.103000	0.15852	0.962000	0.33725	1.000000	0.68203	0.990000	0.65344	0.0879:0.2755:0.4957:0.1409	3.954	0.08879	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1901.33	35	chr15	40573915	.	G	A	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=767;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-2.185;SOR=0.842	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1265	18	0	1	0
chr15	40621714	40621714	A	G	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.A1450G:p.M484V,KNL1:NM_170589:exon11:c.A1528G:p.M510V	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00709341859946	.	.	3.33e-05	0	0	0	0	6.026e-05	0	0	3.23e-05	5	154602	rs752739201	3.698e-05	3.694e-05	3.544e-05	3.854e-05	0.0005	2.897e-05	2.595e-05	0.0001	7.555e-05	0	2.24e-05	0	0	1.873e-05	0.0005	4.142e-05	4.971e-05	0	5.255e-05	5.253e-05	7.707e-05	2.689e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.14	0.34009	T	0.759	0.43487	P	0.187	0.36167	B	0.000028	0.55875	D	0.075697	1	0.81001	D	.	.	.	2.04	0.20808	T	-2.57	0.55501	D	0.505	0.53708	-0.9542	0.40238	T	0.059	0.24871	T	10	0.26937047	0.44462	T	0.007093	0.18786	T	0.106	0.30130	.	.	0.548779645056	0.54534	0.4220247397735816	0.42119	0.0379999867787	0.04038	0.36309209466	0.19836	T	0.495673	0.81829	T	-0.204729	0.20126	T	-0.37549	0.36250	T	0.181403973969656	0.19323	T	0.533147	0.17760	T	0.2349856	0.46327	0.25351772	0.51000	0.2349856	0.46327	0.25351772	0.50999	-6.419	0.51000	T	0.6600017479360973	0.73334	0.177	0.43626	B	.;.;.	.;.;.	2.226792	0.28424	17.79	0.98252969420110958	0.39594	0.97500	0.75152	D	AEFBI	0.204798	0.33121	N	0.346448941271405	0.58553	4.028167	0.408031725712069	0.62064	4.415764	0.895777591097297	0.25962	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	3.777000	0.55071	9.213000	0.79249	-0.040000	0.17491	0.998000	0.41325	1.000000	0.68203	0.658000	0.32913	0.9321:0.0:0.0679:0.0	12.191	0.53582	463	0.78548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1224.33	84	chr15	40621714	.	A	G	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.11;DP=1710;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.095;SOR=0.646	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	0	1	0
chr15	40624282	40624282	G	T	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.G4018T:p.A1340S,KNL1:NM_170589:exon11:c.G4096T:p.A1366S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	2476583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00176735739501	.	.	4.97e-05	0	0	0	0	7.494e-05	0	6.058e-05	5.17e-05	8	154602	rs764310658	4.994e-05	4.994e-05	4.901e-05	5.088e-05	0.0012	4.059e-05	3.734e-05	0.0006	0.0004	0	2.236e-05	0	0	1.874e-05	0.0012	4.587e-05	0.0001	6.956e-05	4.6e-05	4.597e-05	6.425e-05	2.69e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.821e-05	0	0	0.229	0.18371	T	0.585	0.08505	T	0.007	0.17989	B	0.007	0.15521	B	0.604327	0.05664	N	1.224870	1	0.08975	N	.	.	.	2.32	0.16640	T	-0.27	0.11366	N	0.033	0.01999	-0.9853	0.33760	T	0.013	0.05273	T	10	0.04627055	0.03798	T	0.001767	0.03012	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.11093382128331554	0.11022	0.0374116781797	0.03967	0.241384193301	0.02916	T	0.02716	0.19952	T	-0.431075	0.01460	T	-0.665304	0.07912	T	0.0449456677981639	0.04592	T	0.531147	0.17633	T	0.034449313	0.03867	0.03742495	0.03392	0.034449313	0.03867	0.03742495	0.03391	-2.393	0.05090	T	0.5790308000829154	0.64591	0.111	0.24867	B	.;.;.	.;.;.	0.286389	0.06629	3.126	0.92668384724892827	0.22150	0.03574	0.08788	N	AEFBCI	0.031975	0.03525	N	-1.36099095644008	0.03012	0.1339094	-1.36566190873941	0.03624	0.1694563	0.925590276777297	0.26821	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	-3.23	0.04794	-1.031000	0.03689	0.320000	0.17174	0.610000	0.48991	0.000000	0.06391	0.011000	0.20116	0.108000	0.18652	0.345:0.2096:0.2459:0.1995	0.498	0.00537	472	0.77968	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1426.33	40	chr15	40624282	.	G	T	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.133;DP=929;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.203;SOR=0.683	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	41027637	41027637	G	A	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon25:c.C3007T:p.L1003F	.	431	1089	1	1	0	3	0.00137552	.	.	.	2397787	not_specified|INO80-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0219340107207	7.7e-05	.	6.601e-05	9.626e-05	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs201049180	8.211e-05	8.277e-05	7.489e-05	8.94e-05	0.0003	7.003e-05	6.554e-05	8.214e-05	7.634e-05	0	0	0	0	0	0.0003	9.714e-05	0.0001	3.48e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0002	4.953e-05	3.959e-05	9.048e-05	7.012e-05	0	0	6.537e-05	0	0	0	0	0.0002	0.0005	0	0.471	0.08458	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.000338	0.45700	D	0.195712	0.918439	0.36606	D	0	0.06538	N	-2.79	0.91019	D	-1.58	0.38151	N	0.242	0.27316	-0.4656	0.69878	T	0.393	0.74656	T	10	0.07856551	0.12538	T	0.021934	0.44774	T	0.257	0.56827	.	.	0.240615537116	0.23683	0.5056611620995903	0.50488	0.372401614746	0.38736	0.525950431824	0.42464	T	0.072433	0.34452	T	-0.221093	0.17844	T	-0.300316	0.44692	T	0.0913669392466545	0.11379	T	0.828517	0.49290	T	0.17698853	0.38641	0.105514385	0.25365	0.17698853	0.38641	0.105514385	0.25364	-4.767	0.34204	T	.	.	0.100	0.17103	B	.;.;.	.;.;.	2.883383	0.38162	20.7	0.99223693681206382	0.55994	0.80670	0.40248	D	AEFBI	0.107845	0.21473	N	-0.199004542045888	0.33175	1.879243	0.025379188824139	0.40896	2.448116	0.998068596410946	0.36380	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.7	3.72	0.41857	1.590000	0.36264	7.389000	0.58501	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0872:0.2101:0.4564:0.2462	3.060	0.05821	181	0.92953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	33	chr15	41027637	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.07;DP=704;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=2.63;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	303.08	34	chr15	41096253	.	G	C	303.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.902;DP=1127;ExcessHet=0.7564;FS=158.935;InbreedingCoeff=-0.1318;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.442;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1091:.	14	0	4	1
chr15	41396769	41396769	C	A	exonic	NDUFAF1	.	nonsynonymous SNV	NDUFAF1:NM_016013:exon2:c.G291T:p.L97F	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0442147162385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.57480	T	0.14	0.92824	T	0.978	0.58756	D	0.793	0.57829	P	0.000042	0.53742	D	0.073371	0.999571	0.47641	D	2.585	0.75554	M	-0.1	0.64264	T	-1.19	0.41239	N	0.468	0.50418	-0.4117	0.71656	T	0.327	0.69547	T	10	0.4945748	0.61190	T	0.044215	0.61378	D	0.345	0.66676	0.654	0.79172	0.734446920103	0.73207	0.4828603363993807	0.48206	0.40116997535	0.41103	0.410730004311	0.26558	T	0.002253	0.26049	T	0.0428767	0.57420	T	-0.176187	0.56875	T	0.849407970905304	0.50114	D	0.79622	0.45053	T	0.123590775	0.29018	0.12005756	0.28974	0.123590775	0.29018	0.12005756	0.28974	-3.557	0.17239	T	0.22721691872451946	0.30715	0.135	0.50241	B	.;.;.	.;.;.	3.326010	0.45769	22.2	0.997869749157135	0.87308	0.92707	0.56349	D	AEFBI	0.486548	0.52567	N	0.343437844314208	0.58394	4.011341	0.251623965105747	0.52742	3.447005	0.996076650637666	0.34508	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	2.73	0.31266	1.269000	0.32677	1.399000	0.26181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.7832:0.1385:0.0783	10.329	0.42991	136	0.94604	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2438.33	33	chr15	41396769	.	C	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.22;DP=780;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.032;SOR=0.615	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr15	41417212	41417212	C	T	exonic	RTF1	.	nonsynonymous SNV	RTF1:NM_015138:exon1:c.C97T:p.R33W	.	338	1181	3	0	0	3	0.0012685	.	.	.	2346709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.274724466031	.	0.000798722	0.0005	0	0	0	0	0	0	0.0076	0.0001537	4	26028	rs570140884	7.658e-05	0.0002	5.326e-05	0.0001	0.0034	6.334e-05	5.835e-05	0.0028	0.0026	0	0	0	0	0	0.0003	4.299e-06	6.763e-05	0.0034	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.0	0.91255	D	0.06	0.45744	T	0.994	0.66517	D	0.689	0.53736	P	0.122171	0.18966	U	0.270688	0.971905	0.25629	N	0.69	0.16971	N	.	.	.	-0.26	0.11185	N	0.261	0.29544	-1.0921	0.05191	T	0.055	0.23300	T	9	0.00861457	0.00195	T	0.274724	0.90011	D	0.202	0.48754	0.315	0.29096	0.297458270211	0.29361	0.2605884451160792	0.25971	1.19207641878	0.80307	0.953855454922	0.99825	D	0.063097	0.32088	T	0.0572624	0.59267	T	-0.155523	0.58752	T	0.682613805457179	0.39907	D	0.739826	0.35853	T	0.19326043	0.41029	0.30892107	0.56908	0.19326043	0.41029	0.30892107	0.56908	-5.548	0.42315	T	.	.	0.411	0.60161	A	.	.	5.024606	0.83534	28.1	0.99133167377058906	0.53329	0.39562	0.26240	N	AEFGBHCIJ	0.368770	0.45574	N	-0.0815961584024192	0.38199	2.233698	-0.0542351018176995	0.37308	2.182641	0.999999999763613	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.91	2.99	0.33673	1.550000	0.35830	5.564000	0.48925	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1704:0.6644:0.1653:0.0	8.720	0.33600	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	795.33	34	chr15	41417212	.	C	T	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=2.13;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,988	18	0	1	0
chr15	41518088	41518088	C	T	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon23:c.G3890A:p.R1297H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0014	0.00299521	0.0014	0.0040	0.0101	0	0	5.998e-05	0.0011	6.079e-05	0.001313	203	154602	rs141055831	0.0005	0.0005	0.0005	0.0005	0.0090	0.0005	0.0005	0.0083	0.0080	0.0038	0.0090	0	0	0	0.0002	0.0001	0.0006	0.0002	0.0018	0.0018	0.0019	0.0017	0.0048	0.0016	0.0015	0.0040	0.0038	0.0045	0	0.0048	0	0	0	0.0034	7.35e-05	0.0024	0	0.042	0.41637	D	0.109	0.37449	T	0.02	0.18235	B	0.009	0.14300	B	0.050930	0.23027	N	0.494619	1	0.08975	N	2.05	0.56469	M	2.57	0.13552	T	-2.82	0.59545	D	0.156	0.16168	-1.0391	0.17587	T	0.027	0.11574	T	10	0.0042398274	0.00085	T	.	.	.	0.085	0.24743	.	.	0.253726318573	0.24972	0.25822084624494046	0.25736	0.25414597064	0.27982	0.235342130065	0.02386	T	0.041654	0.25929	T	-0.480232	0.00737	T	-0.455062	0.27139	T	0.0147124235638062	0.00306	T	0.836716	0.50835	T	0.069834225	0.15331	0.06969491	0.14717	0.069834225	0.15331	0.06969491	0.14717	-3.96	0.23203	T	.	.	0.079	0.07507	B	.	.	2.684778	0.35034	19.79	0.98923161495161283	0.48602	0.21220	0.21324	N	AEFDGBCI	0.093098	0.18841	N	-0.53179422527459	0.21059	1.114793	-0.526753549235973	0.21427	1.159116	0.9999939153098	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	2.32	0.27895	0.898000	0.28035	0.834000	0.21977	0.599000	0.40250	0.337000	0.25649	0.281000	0.24108	0.956000	0.50813	0.0:0.7241:0.0:0.2759	10.009	0.41147	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1701.33	35	chr15	41518088	.	C	T	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=840;ExcessHet=0;FS=0.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.385;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr15	41522211	41522211	A	G	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon20:c.T2782C:p.F928L	.	420	1098	4	0	0	4	0.00181818	.	.	.	3319982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00569075243506	0.0013	0.000199681	0.0013	0.0002	0.0003	0	0.0006	0.0020	0.0023	0.0008	0.0011966	185	154602	rs147913656	0.0010	0.0010	0.0010	0.0011	0.0074	0.0010	0.0010	0.0056	0.0050	8.961e-05	0.0006	0.0010	0	0.0008	0.0074	0.0011	0.0012	0.0009	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0006	0.0010	0.0009	0.0002	0.0011	0.0003	0.0012	0	0.0008	0.0034	0.0012	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.012815	0.29047	N	0.359399	0.699816	0.30114	N	1.2	0.30300	L	3.19	0.07353	T	1.55	0.00925	N	0.149	0.15187	-1.0732	0.08724	T	0.011	0.04321	T	10	0.010886043	0.00240	T	0.005691	0.14742	T	0.073	0.21317	0.248	0.18447	0.183819452728	0.17975	0.31915644812301214	0.31828	0.235359856156	0.26065	0.456057429314	0.32771	T	0.007061	0.06479	T	-0.593964	0.00159	T	-0.631822	0.10278	T	0.00860955002042055	0.00105	T	0.632737	0.24712	T	0.044538226	0.07136	0.045136753	0.06006	0.044538226	0.07136	0.045136753	0.06006	-0.341	0.00495	T	.	.	0.543	0.66480	A	.;.	.;.	1.578771	0.20203	14.64	0.56868182043444071	0.05645	0.60473	0.31205	D	AEFBI	0.130423	0.24897	N	-0.322763495034588	0.28286	1.558878	-0.142072163500154	0.33714	1.931463	0.0321607156869386	0.14040	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.0	3.88	0.43959	2.804000	0.47628	3.488000	0.38695	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.7799:0.0:0.2201:0.0	7.169	0.24883	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.004076	0.011696	0.050000	0.008621	0.003067	0.000000	0.02632	1020.33	33	chr15	41522211	.	A	G	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.151;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.221;SOR=0.582	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	41568965	41568965	G	A	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon9:c.G1060A:p.A354T,TYRO3:NM_006293:exon9:c.G1195A:p.A399T	.	425	1084	13	0	0	13	0.00596057	.	.	.	2380029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00886099944089	7.7e-05	0.000798722	0.0002	9.626e-05	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs199712738	0.0001	0.0001	9.937e-05	0.0001	0.0049	0.0001	0.0001	0.0035	0.0030	8.961e-05	0.0002	0	0	0	0.0049	8.363e-05	0.0004	0.0003	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.086e-05	5.743e-05	0.0004	0.0003	7.22e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0010	0.172	0.23450	T	0.556	0.09236	T	0.097	0.25541	B	0.175	0.35598	B	0.018131	0.27555	N	0.173587	0.936306	0.37151	D	1.7	0.43825	L	0.43	0.56772	T	-0.88	0.23808	N	0.163	0.17553	-0.9657	0.38073	T	0.138	0.45526	T	10	0.028312981	0.00965	T	0.008861	0.23366	T	0.061	0.17616	.	.	0.19168177325	0.18762	0.32170240943251965	0.32083	0.421253415307	0.42638	0.456272006035	0.32801	T	0.010157	0.43794	T	-0.325051	0.06492	T	-0.376729	0.36104	T	0.0312639685649748	0.02188	T	0.854215	0.54045	D	0.21289685	0.43655	0.13007645	0.31264	0.21289685	0.43655	0.13007645	0.31264	-4.064	0.24757	T	.	.	0.070	0.03372	B	.;.	.;.	4.077361	0.60628	24.2	0.99832759558270867	0.91456	0.80639	0.40225	D	AEFDGBCI	0.416910	0.48517	N	-0.00133697401445527	0.41793	2.506364	0.170250811436877	0.48224	3.041325	0.999999995513229	0.74766	0.733237	0.96898	0	0.610034	0.51514	0	0.600757	0.32118	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	2.336000	0.43597	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8419:0.1581	13.381	0.60210	178	0.93097	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1388.33	33	chr15	41568965	.	G	A	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=905;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=3.19;QD=8.21;ReadPosRankSum=-1.228;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	41571062	41571062	C	G	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon13:c.C1469G:p.A490G,TYRO3:NM_006293:exon13:c.C1604G:p.A535G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0448288116241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	8.168e-06	8.251e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.326	0.33151	B	0.295	0.40843	B	0.001402	0.39109	N	0.000000	1	0.81001	D	-0.635	0.02130	N	-1.41	0.80560	T	3.44	0.00092	N	0.367	0.41557	-0.6797	0.61386	T	0.260	0.63033	T	10	0.20471954	0.36673	T	0.044829	0.61680	D	0.384	0.70112	0.746	0.87738	0.279809986126	0.27602	0.8044325957851877	0.80397	0.824915363401	0.67344	0.616919159889	0.55294	T	0.194234	0.58377	T	0.0262988	0.55229	T	-0.2	0.54646	T	0.608680248260498	0.36747	D	0.855114	0.55526	D	0.08522292	0.19759	0.10682974	0.25706	0.08522292	0.19759	0.10682974	0.25706	-5.785	0.44443	T	.	.	0.099	0.36811	B	.;.	.;.	3.549142	0.49887	22.9	0.27071081445850509	0.01327	0.91793	0.54275	D	AEFDGBI	0.415321	0.48423	N	-0.192554162321527	0.33443	1.897439	0.0206906638246215	0.40677	2.431427	0.999993704272845	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	2.804000	0.47628	7.623000	0.62394	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8615:0.1385:0.0	15.487	0.75310	171	0.93390	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	36	chr15	41571062	.	C	G	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.897;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.19;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1326	18	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2260.29	36	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	2260.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=1290;ExcessHet=0;FS=12.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-2.953;SOR=1.568	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	41668915	41668915	T	G	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon2:c.T21G:p.I7M,MGA:NM_001164273:exon2:c.T21G:p.I7M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	.	.	0.00319489	0.0021	0.0001	0.0021	0.0204	0	0.0002	0.005	0.0014	0.0017658	273	154602	rs138712718	0.0011	0.0011	0.0010	0.0011	0.0278	0.0010	0.0010	0.0264	0.0259	3.058e-05	0.0021	0.0016	0.0278	0	0	0.0001	0.0007	0.0014	0.0012	0.0012	0.0011	0.0013	0.0208	0.0010	0.0010	0.0176	0.0164	7.217e-05	0	0.0024	0.0020	0.0208	0	0.0034	0.0002	0	0.0014	0.001	0.78490	D	0.138	0.40267	T	.	.	.	.	.	.	0.003630	0.34687	N	0.127499	1	0.08975	N	0.205	0.09354	N	-2.25	0.87272	D	-1.4	0.34596	N	0.661	0.67045	-0.7478	0.58050	T	0.175	0.51816	T	10	0.0055910647	0.00124	T	.	.	.	0.359	0.67962	.	.	0.428492896387	0.42465	0.3378166267228631	0.33694	0.348634746703	0.36727	0.50332814455	0.39291	T	0.088837	0.38244	T	-0.308802	0.07854	T	-0.200754	0.54574	T	0.0460250514082537	0.04788	T	0.890911	0.62511	D	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.089	0.24260	B	.;.;.;.;.;.	.;.;.;.;.;.	2.354977	0.30199	18.36	0.94868921562570352	0.25687	0.44008	0.27224	N	AEGBI	0.055018	0.10052	N	-0.381287247278921	0.26136	1.42411	-0.279942680206718	0.28759	1.606025	0.999854452341961	0.44174	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.37	0.00603	0.13387	-0.042000	0.12016	1.467000	0.26725	0.665000	0.62972	0.941000	0.32681	1.000000	0.68203	1.000000	0.97212	0.1345:0.3002:0.1393:0.426	1.578	0.02470	125	0.94984	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2044.33	36	chr15	41668915	.	T	G	2044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.69;DP=770;ExcessHet=0;FS=3.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0.98;QD=13.72;ReadPosRankSum=0.034;SOR=1.047	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1414	18	0	1	0
chr15	41846336	41846336	T	G	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon17:c.T1734G:p.H578Q,JMJD7-PLA2G4B:NM_001198588:exon22:c.T2427G:p.H809Q,JMJD7-PLA2G4B:NM_005090:exon22:c.T2427G:p.H809Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00301065848505	.	0.000199681	2.477e-05	0	0	0.0003	0	0	0	0	2.59e-05	4	154602	rs550553217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.305298	0.14527	N	0.639785	0.949845	0.27329	N	0.72	0.18721	N	2.63	0.12884	T	1.37	0.00867	N	0.211	0.24510	-0.9407	0.42505	T	0.012	0.04510	T	10	0.024297416	0.00664	T	0.003011	0.06457	T	0.051	0.14325	0.489	0.57415	0.0401082797425	0.02173	0.3915205488759765	0.39474	0.0266108330134	0.02719	0.328074216843	0.14643	T	0.003969	0.03383	T	-0.400757	0.02289	T	-0.587734	0.13863	T	0.021739939568549	0.00880	T	0.0983902	0.06305	T	0.037739087	0.04894	0.06372817	0.12667	0.037739087	0.04893	0.06372817	0.12667	-2.248	0.04280	T	.	.	0.178	0.41633	B	.;.;.;.	.;.;.;.	0.369137	0.07417	4.044	0.728655717195969	0.10123	0.09812	0.15482	N	AEFGBI	0.052836	0.09468	N	-1.08466656841045	0.06925	0.3201976	-1.0096912189125	0.09571	0.4769607	0.788300278652022	0.23970	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.96	-4.5	0.03247	-0.120000	0.10633	-2.536000	0.03636	0.665000	0.62972	0.746000	0.29090	0.000000	0.08366	0.982000	0.59238	0.1101:0.1497:0.561:0.1793	5.606	0.16661	238	0.90711	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	41	chr15	41846336	.	T	G	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=941;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-2.106;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr15	41847380	41847380	C	T	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon19:c.C1991T:p.P664L,JMJD7-PLA2G4B:NM_005090:exon24:c.C2684T:p.P895L	.	426	1094	2	0	0	2	0.000913242	.	.	.	3275547	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.0398425910531	7.7e-05	.	9.997e-05	0	0	0	0	4.555e-05	0	0.0006	7.76e-05	12	154602	rs145043086	6.991e-05	6.977e-05	5.728e-05	8.268e-05	0.0003	5.858e-05	5.468e-05	0.0002	0.0002	5.977e-05	0	0	2.521e-05	0	0.0002	5.67e-05	9.95e-05	0.0003	4.598e-05	5.249e-05	5.141e-05	4.03e-05	5.881e-05	2.109e-05	1.526e-05	1.972e-05	1.125e-05	4.816e-05	0	0	0	0	0	0.0034	5.881e-05	0	0	0.007	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.951	0.68939	D	0.000551	0.43413	D	0.162448	1	0.81001	D	3.065	0.87014	M	2.2	0.18570	T	-8.72	0.97670	D	0.702	0.70615	-0.8738	0.50241	T	0.151	0.47839	T	9	0.674883	0.70931	D	0.039843	0.59042	D	0.321	0.64318	.	.	0.506250668499	0.50264	0.7433040204011816	0.74276	0.216757167542	0.24195	0.498891025782	0.38673	T	0.272242	0.64462	T	-0.231786	0.16414	T	-0.248755	0.49939	T	0.894309222698212	0.54567	D	0.849315	0.53201	T	0.11194796	0.26451	0.124207385	0.29940	0.11194796	0.26451	0.124207385	0.29939	-8.325	0.63264	D	.	.	0.125	0.26514	B	.;.;.	.;.;.	4.340799	0.66595	25.0	0.9991309726751082	0.98167	0.94822	0.62449	D	AEFGBCI	0.498533	0.53260	N	0.578323257262695	0.71821	5.70983	0.538487600049008	0.70601	5.529139	0.999999993666749	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	4.293000	0.58834	4.839000	0.45267	0.598000	0.34611	0.996000	0.39380	1.000000	0.68203	0.403000	0.26849	0.0:1.0:0.0:0.0	15.783	0.78043	237	0.90758	.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1035.33	34	chr15	41847380	.	C	T	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=702;ExcessHet=0;FS=7.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.314;SOR=0.165	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1263	18	0	1	0
chr15	41847505	41847505	C	T	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon19:c.C2116T:p.R706W,JMJD7-PLA2G4B:NM_005090:exon24:c.C2809T:p.R937W	.	413	1081	27	1	0	29	0.013236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0003	0.00279553	0.0026	0.0006	0.0011	0.0001	0	0.0010	0.0023	0.0138	0.0022186	343	154602	rs141583854	0.0016	0.0015	0.0011	0.0020	0.0155	0.0015	0.0015	0.0148	0.0146	0.0004	0.0011	0.0033	5.062e-05	7.581e-05	0.0054	0.0006	0.0017	0.0155	0.0013	0.0013	0.0011	0.0015	0.0127	0.0012	0.0011	0.0101	0.0092	0.0004	0	0.0030	0.0055	0.0002	9.416e-05	0	0.0007	0.0024	0.0127	0.006	0.61437	D	0.001	0.83351	D	0.999	0.77913	D	0.847	0.60522	P	0.476869	0.12212	N	0.708561	0.999749	0.48716	D	2.89	0.83701	M	3.57	0.04645	T	-5.38	0.84954	D	0.54	0.60241	-1.0668	0.10131	T	0.026	0.11309	T	9	0.0069566667	0.00158	T	.	.	.	0.235	0.53788	.	.	0.46614307118	0.46241	0.6382862768364067	0.64143	0.118988834109	0.13405	0.233523100615	0.02239	T	0.251708	0.62199	T	-0.402265	0.02237	T	-0.338926	0.40465	T	0.0475804560764313	0.05069	T	0.90391	0.66280	D	0.12414599	0.29134	0.09385466	0.22188	0.12414599	0.29134	0.09385466	0.22188	-8.139	0.62013	D	.	.	0.115	0.23005	B	.;.;.	.;.;.	4.018200	0.59328	24.1	0.99812091658319146	0.89620	0.12479	0.17294	N	AEFGBCI	0.177509	0.30476	N	-0.19786510668765	0.33222	1.882414	-0.378526987946722	0.25638	1.411171	0.941950303771863	0.27500	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.87	1.74	0.23636	0.116000	0.15393	1.494000	0.26909	0.598000	0.34611	0.015000	0.19116	0.797000	0.26915	0.303000	0.24570	0.6845:0.3155:0.0:0.0	13.838	0.62917	238	0.90711	.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008290	0.000000	0.008152	0.006993	0.000000	0.008621	0.003049	0.022727	0.05263	4229.83	37	chr15	41847505	.	C	T	4229.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.56;DP=892;ExcessHet=0.119;FS=3.987;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.252;SOR=0.509	GT:AD:DP:GQ:PL	0/1:60,77:137:99:2026,0,1407	17	0	2	0
chr15	41851065	41851065	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon65:c.C10829T:p.S3610F	.	404	1117	0	1	0	2	0.000894454	.	.	.	3334114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00458886585679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436289927	8.22e-06	8.893e-06	5.452e-06	1.102e-05	0.0002	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.097e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.05452	T	0.0	0.92824	D	0.005	0.12996	B	0.003	0.08700	B	0.803355	0.09306	N	0.889918	1	0.08975	N	1.995	0.54099	M	1.56	0.29602	T	-2.33	0.51646	N	0.485	0.51940	-0.9893	0.32778	T	0.054	0.22808	T	10	0.23159716	0.40137	T	0.004589	0.11346	T	0.073	0.21317	0.525	0.62967	0.265929055128	0.26215	0.14823396260442542	0.14745	.	.	0.319104999304	0.13285	T	0.054574	0.29763	T	-0.209161	0.19498	T	-0.538222	0.18472	T	0.215476661920547	0.21236	T	0.606739	0.22845	T	0.06910235	0.15112	0.07745201	0.17255	0.06910235	0.15112	0.07745201	0.17255	-7.089	0.54681	T	.	.	0.166	0.36574	B	.	.	1.599845	0.20451	14.76	0.97548694238601374	0.34555	0.06941	0.12967	N	AEFDGBCI	0.050129	0.08731	N	-0.929841874079959	0.10149	0.4836246	-0.992724629650866	0.09947	0.4979823	0.999630517592174	0.41205	0.67177	0.52595	0	0.550933	0.16991	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.06	0.767	0.17627	0.366000	0.20099	0.668000	0.20568	0.675000	0.71128	0.163000	0.23839	0.990000	0.31317	0.081000	0.17303	0.1109:0.3483:0.363:0.1778	2.484	0.04314	234	0.90879	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2553.33	96	chr15	41851065	.	G	A	2553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.33;DP=2008;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.359;SOR=0.721	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chr15	41854789	41854789	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon56:c.G9611A:p.R3204H	.	.	.	.	.	.	.	.	.	.	.	2287252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.234630749848	0.0002	.	0.0003	0	0	0.0015	0	0.0002	0	0.0003	0.0002135	33	154602	rs376322805	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	6.511e-05	0.0001	0	0.0004	0	0	0.0001	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0006	0.0005	4.82e-05	0	0.0003	0	0.0014	0	0	0.0003	0	0.0002	0.04	0.42199	D	0.003	0.76473	D	0.804	0.45171	P	0.244	0.38795	B	0.001094	0.40303	N	0.154476	0.98604	0.24654	N	3.335	0.90898	M	0.11	0.61208	T	-4.41	0.77391	D	0.517	0.54757	-0.6034	0.64677	T	0.255	0.62541	T	10	0.17360422	0.32196	T	0.234631	0.88419	D	0.281	0.59861	.	.	0.811282070921	0.80951	0.39734938709119205	0.39649	.	.	0.282105743885	0.07788	T	0.201161	0.55895	T	-0.299348	0.08722	T	-0.243302	0.50474	T	0.204036931509994	0.20637	T	0.59724	0.22223	T	0.21400538	0.43794	0.17027721	0.39125	0.21400538	0.43794	0.17027721	0.39124	-6.509	0.50356	T	.	.	0.166	0.36554	B	.	.	1.969130	0.25016	16.61	0.96161493028170575	0.28899	0.73883	0.36138	D	AEFDGBHCI	0.103100	0.20666	N	-0.10651602340975	0.37108	2.154263	-0.194274408499382	0.31747	1.799528	0.999999832817278	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.27	4.36	0.51643	1.592000	0.36286	-1.100000	0.06331	-0.176000	0.10722	0.399000	0.26162	0.000000	0.08366	0.034000	0.13613	0.0:0.8658:0.1342:0.0	16.092	0.80907	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.005102	0.000000	0.003012	0.000000	0.000000	0.000000	0.000000	0.02632	521.33	34	chr15	41854789	.	C	T	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=650;ExcessHet=0;FS=2.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.15;SOR=1.302	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1153	18	0	1	0
chr15	41854865	41854865	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon56:c.C9535T:p.R3179C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00330437020961	.	.	1.687e-05	0	0	0	0	1.517e-05	0	6.546e-05	3.23e-05	5	154602	rs749433637	1.715e-05	1.71e-05	1.365e-05	2.07e-05	5.828e-05	1.178e-05	9.95e-06	2.203e-05	1.436e-05	0	4.519e-05	0	0	0	0	1.622e-05	0	5.828e-05	1.315e-05	1.313e-05	2.571e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.178	0.22138	T	0.215	0.26306	T	0.0	0.02946	B	0.001	0.04355	B	0.164983	0.03067	N	1.645850	1	0.08975	N	-1.95	0.00216	N	1.33	0.35031	T	-0.07	0.08033	N	0.102	0.08506	-1.0227	0.22834	T	0.020	0.08500	T	10	0.027763963	0.00917	T	0.003304	0.07329	T	0.040	0.10527	.	.	0.177238962908	0.17366	0.0881556076216947	0.08748	.	.	0.292771458626	0.09328	T	0.009944	0.09021	T	-0.494097	0.00617	T	-0.765365	0.02923	T	0.0270358025341484	0.01549	T	0.318868	0.06391	T	0.037529543	0.04827	0.02033809	0.00131	0.037529543	0.04827	0.02033809	0.00131	-5.143	0.38357	T	.	.	0.066	0.02200	B	.	.	0.021605	0.04434	1.164	0.61617857043597157	0.06754	0.02903	0.07699	N	AEFDGBCI	0.026604	0.02026	N	-1.88401753384987	0.00370	0.01591021	-1.90321621797882	0.00483	0.02137656	0.999995306904867	0.74766	0.646311	0.45356	0	0.573078	0.20572	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.2	-8.71	0.00734	-0.577000	0.05940	0.223000	0.16097	-1.516000	0.01010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1888:0.2135:0.2941:0.3035	0.737	0.00905	216	0.91608	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	796.33	34	chr15	41854865	.	G	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=699;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.394;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,33:70:99:810,0,802	18	0	1	0
chr15	41868553	41868553	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon33:c.G5902A:p.V1968M	.	404	1112	6	0	0	6	0.00269058	.	.	.	703177	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00579706098648	0.0057	0.00179712	0.0059	0.0009	0.0029	0	0.0067	0.0091	0.0058	0.0012	0.0056726	877	154602	rs139560192	0.0072	0.0072	0.0074	0.0071	0.0079	0.0071	0.0071	0.0078	0.0077	0.0009	0.0035	0.0258	2.519e-05	0.0048	0.0059	0.0079	0.0079	0.0015	0.0056	0.0056	0.0058	0.0054	0.0084	0.0053	0.0052	0.0078	0.0076	0.0013	0	0.0035	0.0236	0	0.0069	0	0.0084	0.0038	0.0027	0.264	0.16358	T	0.049	0.48336	D	0.012	0.16265	B	0.022	0.19653	B	0.515285	0.05170	N	1.435670	1	0.08975	N	1.445	0.36358	L	0.78	0.49358	T	-0.38	0.13418	N	0.1	0.08227	-1.0444	0.16000	T	0.056	0.23527	T	10	0.0032605827	0.00056	T	0.005797	0.15072	T	0.019	0.03383	.	.	0.335661160332	0.33175	0.08446922563517725	0.08380	.	.	0.275646686554	0.06893	T	0.012695	0.11113	T	-0.65515	0.00067	T	-0.708445	0.05376	T	0.000853579730319362	0.00008	T	0.460954	0.13351	T	0.027796471	0.02022	0.03812441	0.03613	0.027796471	0.02022	0.03812441	0.03612	-3.189	0.12346	T	.	.	0.118	0.24260	B	.	.	0.578690	0.09469	6.250	0.85662614522430602	0.16033	0.02180	0.06383	N	AEFDGBI	0.035139	0.04473	N	-1.58498986784729	0.01341	0.05843489	-1.5766567850945	0.01799	0.08188516	0.925645642465343	0.26823	0.562547	0.31514	0	0.59043	0.45803	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.85	0.076	0.13714	-0.015000	0.12572	-0.153000	0.11399	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1314:0.4815:0.0:0.3871	5.484	0.16030	196	0.92420	.	OIP5-AS1	Esophagus_Muscularis	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002533	0.000000	0.000000	0.002976	0.000000	0.000000	0.009202	0.000000	0.02632	958.33	37	chr15	41868553	.	C	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=779;ExcessHet=0;FS=3.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.073;SOR=0.366	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr15	41873610	41873610	T	C	splicing	SPTBN5	NM_016642:exon26:c.4891-2A>G	.	.	.	421	1095	6	0	0	6	0.00273224	1.0000	0.912	.	2817465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0004	0	0.0023	0	0	0.0009	0	0	9.06e-05	14	154602	rs201755073	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0010	7.949e-05	0	0	0.0037	0.0001	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0003	0.0020	0.0018	0	0	0.0027	0	0	0	0.0068	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0870298	0.62853	D	0.301795	0.88280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798290	0.77943	26.8	0.99487612758217414	0.67235	0.98004	0.78799	D	AEFGBI	.	.	.	1.01545169791207	0.96200	14.41447	0.853787589948177	0.93234	11.91074	0.99999076030791	0.74766	0.099367	0.02607	0	0.059962	0.00310	0	0.074216	0.02223	0	0.117559	0.03655	0	0.852332	0.51913	5.24	5.24	0.72863	4.999000	0.63678	3.598000	0.39212	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	14.156	0.64950	197	0.92378	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1037.33	35	chr15	41873610	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.167;SOR=0.647	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr15	41873964	41873964	G	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon25:c.C4771A:p.H1591N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.066334558352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.0	0.92824	D	0.997	0.70673	D	0.932	0.66722	D	0.000190	0.48115	D	0.141462	0.990776	0.24126	N	2.455	0.71248	M	1.25	0.36512	T	-6.55	0.91827	D	0.43	0.46928	-0.8376	0.52806	T	0.201	0.55766	T	10	0.5049839	0.61765	D	0.066335	0.69844	D	0.203	0.48915	0.476	0.55342	0.746532560806	0.74424	0.12150700120769219	0.12077	.	.	0.465372413397	0.34047	T	0.121654	0.44477	T	-0.0898488	0.38101	T	-0.366838	0.37258	T	0.984646141529083	0.75885	D	0.521748	0.17009	T	0.5369717	0.69226	0.50837743	0.71588	0.5369717	0.69227	0.50837743	0.71588	-5.822	0.44766	T	.	.	0.266	0.50044	B	.	.	3.571404	0.50303	22.9	0.98837527195263153	0.47068	0.95261	0.64038	D	AEFDBI	0.528520	0.55001	D	0.537563247283301	0.69327	5.341352	0.467702696040526	0.65862	4.877632	0.857230106824023	0.25157	0.562547	0.31514	0	0.610034	0.51514	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.26	4.34	0.51267	3.795000	0.55203	6.840000	0.56713	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0791:0.0:0.9209:0.0	13.171	0.59021	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	948.33	38	chr15	41873964	.	G	T	948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=717;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.64;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C	.	425	1051	42	4	0	50	0.0232342	.	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014632	0.005051	0.009511	0.014620	0.000000	0.000000	0.030675	0.030303	0.05263	2028.83	34	chr15	41892953	.	G	A	2028.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.56;DP=756;ExcessHet=0.119;FS=1.992;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.1;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	17	0	2	0
chr15	42071882	42071882	C	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon15:c.G1465T:p.G489C	.	430	1088	3	1	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	.	0.0003	0.00958466	0.0043	0.0003	0.0004	0.0537	0.0011	0.0002	0.0045	0.0015	0.0039262	607	154602	rs72489212	0.0019	0.0019	0.0019	0.0018	0.0549	0.0018	0.0018	0.0529	0.0522	0.0003	0.0011	0	0.0549	0.0009	0.0014	0.0001	0.0028	0.0013	0.0023	0.0023	0.0019	0.0026	0.0505	0.0021	0.0020	0.0455	0.0435	0.0003	0	0.0026	0	0.0505	0.0009	0	0.0001	0.0019	0.0012	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	3.785	0.95291	H	1.17	0.37910	T	-8.01	0.96554	D	0.961	0.97095	-0.5706	0.65990	T	0.072	0.29227	T	10	0.008841664	0.00200	T	.	.	.	0.628	0.85666	.	.	0.797061488228	0.79517	0.9137453322045859	0.91349	0.360229569722	0.37702	0.614315986633	0.54925	T	0.21475	0.57642	T	-0.0366905	0.46440	T	0.220082	0.84177	D	0.114536074424312	0.13887	T	0.961704	0.85587	D	0.986232	0.99546	0.96408415	0.99186	0.986232	0.99546	0.96408415	0.99186	-10.471	0.76680	D	.	.	0.56	0.67212	A	.	.	5.146772	0.86185	28.8	0.99753843527766184	0.84460	0.95112	0.63482	D	AEFDBI	0.695558	0.65419	D	0.733257981383359	0.81812	7.610797	0.617463632613257	0.76209	6.448786	0.999999997920332	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.258000	0.72447	5.855000	0.50375	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.148	0.86651	64	0.97283	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1381.33	35	chr15	42071882	.	C	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=745;ExcessHet=0;FS=5.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-2.464;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1179:.	18	0	1	0
chr15	42087400	42087400	G	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon3:c.C155T:p.S52L	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0005	0.00998403	0.0045	0.0010	0.0004	0.0556	0.0011	0.0002	0.0044	0.0016	0.0041203	637	154602	rs74977904	0.0019	0.0019	0.0020	0.0019	0.0560	0.0019	0.0018	0.0541	0.0533	0.0009	0.0012	0	0.0560	0.0009	0.0019	0.0001	0.0029	0.0015	0.0024	0.0024	0.0020	0.0029	0.0523	0.0022	0.0022	0.0472	0.0452	0.0007	0	0.0027	0	0.0523	0.0009	0	0.0001	0.0019	0.0012	0.001	0.78490	D	0.001	0.83351	D	0.001	0.07471	B	0.009	0.14300	B	0.001671	0.38326	N	0.166793	0.989345	0.24306	N	-0.75	0.01730	N	2.95	0.09635	T	-2.21	0.49684	N	0.332	0.37301	-0.9899	0.32626	T	0.002	0.00769	T	10	0.0042091906	0.00084	T	.	.	.	0.080	0.23350	.	.	0.419461527279	0.41563	0.46001490631854447	0.45919	0.0491442954324	0.05378	0.387166202068	0.23270	T	0.066961	0.33080	T	-0.608991	0.00128	T	-0.601988	0.12645	T	0.0567237871004125	0.06642	T	0.564244	0.19889	T	0.20394816	0.42488	0.23104917	0.48225	0.20394816	0.42488	0.23104917	0.48224	-7.534	0.57849	D	.	.	0.084	0.09481	B	.	.	2.300670	0.29439	18.12	0.99559290015869861	0.71645	0.81558	0.40937	D	AEFDGBI	0.202691	0.32926	N	-0.500254695641363	0.22072	1.176027	-0.32850772492777	0.27181	1.506532	0.999896016907731	0.45129	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.15	4.24	0.49486	1.815000	0.38620	4.982000	0.46469	0.671000	0.69459	0.979000	0.35152	1.000000	0.68203	0.017000	0.10941	0.0877:0.0:0.9123:0.0	11.025	0.46957	91	0.96221	C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1568.33	35	chr15	42087400	.	G	A	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.405;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-1.04;SOR=0.627	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr15	42142138	42142138	G	C	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon20:c.C2396G:p.P799R	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0011	0.0183706	0.0120	0.0013	0.0466	0.0953	0.0002	0.0003	0.0077	0.0026	0.0109184	1688	154602	rs75560163	0.0050	0.0050	0.0052	0.0048	0.1209	0.0049	0.0049	0.1180	0.1169	0.0007	0.0378	0.0004	0.1209	5.616e-05	0.0014	0.0002	0.0057	0.0029	0.0060	0.0060	0.0049	0.0072	0.1005	0.0057	0.0056	0.0933	0.0905	0.0008	0	0.0183	0.0006	0.1005	0	0.0034	0.0006	0.0095	0.0043	.	.	.	0.002	0.79402	D	0.993	0.65571	D	0.796	0.58006	P	0.000151	0.49130	D	0.086755	0.996897	0.43488	D	2.99	0.85699	M	.	.	.	.	.	.	0.204	0.22614	-1.2417	0.00014	T	0.002	0.00615	T	10	0.002361387	0.00035	T	.	.	.	0.280	0.59740	.	.	.	.	0.6424716660277365	0.64182	.	.	0.422901451588	0.28235	T	0.08251	0.36845	T	-0.165158	0.25968	T	0.0971066	0.76716	D	0.0350737961299107	0.02820	T	0.542646	0.18460	T	0.73383653	0.79940	0.7011293	0.82389	0.73383653	0.79942	0.7011293	0.82390	-8.762	0.66152	D	.	.	0.188	0.40586	B	.	.	4.469976	0.69640	25.4	0.99851060538015246	0.93013	0.97502	0.75165	D	AEFGBI	0.747923	0.68983	D	0.774230622477915	0.84469	8.296945	0.740188229893542	0.85421	8.575896	0.999999999999946	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	6.110000	0.71213	8.324000	0.76967	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	19.130	0.93384	136	0.94604	Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1119.33	39	chr15	42142138	.	G	C	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.915;DP=793;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.499;SOR=0.56	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	42147722	42147722	C	T	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon12:c.G1100A:p.R367Q	.	430	1083	9	0	0	9	0.00413793	.	.	.	3376066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.0383399024703	.	.	6.726e-05	0	0	0	0	1.533e-05	0	0.0004	5.17e-05	8	154602	rs771499054	3.702e-05	3.694e-05	2.319e-05	5.099e-05	0.0005	2.9e-05	2.598e-05	0.0003	0.0003	0	2.239e-05	0	0	0	0.0005	6.305e-06	6.647e-05	0.0005	6.584e-06	6.574e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.996789	0.43415	D	4.07	0.97156	H	.	.	.	.	.	.	0.936	0.94196	-0.6600	0.62276	T	0.175	0.51959	T	10	0.930815	0.92421	D	0.03834	0.58162	D	0.396	0.71084	0.843	0.94784	0.621089364347	0.61801	0.8115974584509299	0.81114	.	.	0.567460775375	0.48319	T	0.18752	0.54114	T	0.209939	0.74825	D	0.385753	0.91630	D	0.992177784442902	0.82591	D	0.953405	0.82184	D	0.61637557	0.73569	0.4087058	0.65180	0.61637557	0.73570	0.4087058	0.65180	-10.73	0.78156	D	.	.	0.322	0.54675	B	.	.	5.715980	0.93200	33	0.99953925100581664	0.99963	0.97563	0.75570	D	AEFBI	0.773675	0.70761	D	0.879213215446896	0.90704	10.52667	0.804835781950899	0.90128	10.26825	0.999999999588356	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	4.99	0.65942	4.989000	0.63600	7.487000	0.59324	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:1.0:0.0:0.0	18.828	0.92093	250	0.90192	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	42	chr15	42147722	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=727;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-0.406;SOR=0.561	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1311	18	0	1	0
chr15	42276349	42276349	C	A	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon2:c.C31A:p.L11I,GANC:NM_198141:exon2:c.C31A:p.L11I,GANC:NM_001301409:exon3:c.C31A:p.L11I	.	676	5	11	829	1	1670	0.994044	0	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00224095177646	.	.	5.802e-05	0	0	0	0	1.506e-05	0	0.0004	4.53e-05	7	154602	rs8043515	2.224e-05	3.984e-05	1.443e-05	2.99e-05	0.0003	1.542e-05	1.328e-05	0.0002	0.0002	6.749e-05	0	0	0	0	0	4.297e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.26192	T	0.273	0.22154	T	0.002	0.09854	B	0.002	0.06944	B	0.041621	0.23931	N	0.341271	1	0.08975	P	0	0.06538	N	2.19	0.18724	T	0.34	0.08187	N	0.117	0.12913	-1.0152	0.25272	T	0.019	0.07753	T	9	0.035594553	0.01815	T	0.002241	0.04260	T	0.027	0.05988	0.204	0.11936	0.202949470691	0.19918	0.09475437060271935	0.09407	0.0212764997777	0.02108	0.45350509882	0.32423	T	0.06464	0.41949	T	-0.440593	0.01283	T	-0.563241	0.16075	T	0.0211082919930229	0.00813	T	0.217878	0.02755	T	0.058094192	0.11645	0.043971397	0.05592	0.058094192	0.11644	0.043971397	0.05592	-4.278	0.27867	T	.	.	0.046	0.03736	B	.;.;.;.;.	.;.;.;.;.	2.766989	0.36307	20.2	0.9345738165676617	0.23243	0.31875	0.24446	N	AEFBCI	0.121528	0.23623	N	-0.825548423619618	0.12659	0.6184902	-0.668308253869979	0.17754	0.9455032	0.999624966927413	0.41093	0.660085	0.49399	0	0.685571	0.66316	0	0.731467	0.93227	0	0.651492	0.60203	0	.	.	4.37	1.0	0.18999	2.091000	0.41316	5.338000	0.48337	-0.165000	0.11486	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.3101:0.3394:0.3505	6.557	0.21660	480	0.77422	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	40048.3	63	chr15	42276349	.	C	A	40048.3	.	AC=1;AF=0.026;AN=38;DP=1341;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=60;QD=30.69;SOR=1.121	GT:AD:DP:GQ:PL	0/0:0,0:65:99:2046,2046,2046	18	0	1	0
chr15	42292901	42292901	A	G	exonic	GANC	.	nonsynonymous SNV	GANC:NM_198141:exon5:c.A496G:p.I166V,GANC:NM_001301409:exon6:c.A496G:p.I166V	.	431	1046	40	5	0	50	0.0233427	.	.	.	703188	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0078	0.0127796	0.0075	0.0147	0.0057	0	0.0002	0.0049	0.0077	0.0221	0.0070504	1090	154602	rs16973015	0.0045	0.0045	0.0038	0.0052	0.0291	0.0044	0.0044	0.0255	0.0242	0.0164	0.0063	0.0275	7.559e-05	0.0002	0.0291	0.0022	0.0087	0.0222	0.0081	0.0081	0.0077	0.0084	0.0226	0.0077	0.0076	0.0191	0.0178	0.0151	0	0.0110	0.0283	0	9.411e-05	0.0374	0.0028	0.0113	0.0226	1.0	0.13789	T	1.0	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.994447	0.07924	N	1.002620	0.999995	0.18878	N	0.345	0.11182	N	2.42	0.15376	T	0.47	0.03407	N	0.051	0.03502	-0.9557	0.39970	T	0.007	0.02478	T	10	0.0022723973	0.00033	T	.	.	.	0.029	0.06676	.	.	0.208000267992	0.20380	0.2328167028766837	0.23196	0.0197173881048	0.01935	0.319238394499	0.13306	T	0.105202	0.41545	T	-0.727947	0.00025	T	-0.801502	0.01865	T	0.00145000340663175	0.00015	T	0.627737	0.24333	T	0.016294397	0.00188	0.023676626	0.00381	0.016294397	0.00188	0.023676626	0.00381	-1.67	0.02152	T	.	.	0.072	0.04396	B	.;.	.;.	-0.090613	0.03695	0.753	0.53970959569603294	0.05044	0.16193	0.19274	N	AEFBI	0.068465	0.13508	N	-0.924656515881054	0.10268	0.4898374	-0.850470864278704	0.13276	0.6878217	0.648537815688585	0.22136	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.27	0.387	0.15484	0.222000	0.17482	1.616000	0.27661	0.756000	0.94297	0.036000	0.20778	0.710000	0.26286	0.680000	0.33542	0.4019:0.2069:0.3911:0.0	5.528	0.16255	495	0.76383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030715	0.090909	0.033967	0.043860	0.050000	0.008621	0.015244	0.011364	0.02632	2336.33	38	chr15	42292901	.	A	G	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.078;DP=888;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.059;SOR=0.626	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr15	42442393	42442393	T	G	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon6:c.A929C:p.H310P,ZNF106:NM_001381997:exon6:c.A842C:p.H281P,ZNF106:NM_001381996:exon7:c.A1001C:p.H334P,ZNF106:NM_022473:exon7:c.A3374C:p.H1125P,ZNF106:NM_001284307:exon8:c.A1058C:p.H353P,ZNF106:NM_001366844:exon8:c.A1058C:p.H353P,ZNF106:NM_001381995:exon8:c.A1076C:p.H359P,ZNF106:NM_001381998:exon8:c.A1058C:p.H353P,ZNF106:NM_001381993:exon9:c.A3242C:p.H1081P,ZNF106:NM_001381994:exon9:c.A1259C:p.H420P,ZNF106:NM_001366845:exon10:c.A3443C:p.H1148P,ZNF106:NM_001366846:exon10:c.A3443C:p.H1148P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0334278922156	.	.	9.971e-05	0	8.643e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs777682894	4.517e-05	4.515e-05	3.813e-05	5.229e-05	0.0021	3.643e-05	3.323e-05	0.0012	0.0009	0.0001	4.477e-05	0	0	0	0.0021	3.869e-05	8.283e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.548e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.548e-05	0	0	0	0	2.94e-05	0	0	0.113	0.29158	T	0.283	0.24193	T	0.167	0.28604	B	0.04	0.23831	B	0.229110	0.15960	N	0.659026	0.999862	0.19989	N	1.5	0.37844	L	0.48	0.62762	T	-1.15	0.35399	N	0.373	0.41459	-1.0241	0.22377	T	0.098	0.36754	T	10	0.046054333	0.03750	T	0.033428	0.54974	D	0.030	0.07022	0.175	0.08135	0.462549850287	0.45878	0.24509630676554672	0.24423	0.301837205482	0.32518	0.329143553972	0.14805	T	0.00778	0.19739	T	-0.283259	0.10325	T	-0.389612	0.34597	T	0.0418611094355583	0.04030	T	0.608539	0.23656	T	0.08409253	0.19448	0.08428175	0.19376	0.08409253	0.19447	0.08428175	0.19376	-1.584	0.02301	T	.	.	0.092	0.17232	B	.;.;.;.;.	.;.;.;.;.	0.509627	0.08783	5.562	0.92230414391322357	0.21606	0.09878	0.15533	N	AEFBI	0.152442	0.27712	N	-0.58340372014296	0.19449	1.017984	-0.518036871039817	0.21664	1.172985	0.98938164977551	0.31809	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.31	0.27816	-0.309000	0.08185	-2.921000	0.03228	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.655000	0.32830	0.1769:0.1812:0.0:0.6419	5.276	0.14961	128	0.94857	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1269.33	47	chr15	42442393	.	T	G	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.884;DP=812;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.796;SOR=0.844	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1477	18	0	1	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10	.	432	1070	14	0	6	20	0.00649954	.	.	.	703197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6593.29	376	chr15	42685477	.	A	AACCCCATT	6593.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.197;DP=4486;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-1.517;QD=14.59;ReadPosRankSum=-0.875;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:302,0:302:99:.:.:0,120,1800:.	18	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	120332.0	549	chr15	42685478	.	G	GTGAGCTCCAA	120332.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.76;DP=6577;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=-1.031;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:458:99:.:.:13469,13469,13469:.	18	0	1	0
chr15	42685588	42685588	C	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C4010T:p.S1337F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.100068223291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158275465	2.166e-06	2.052e-06	2.85e-06	1.463e-06	2.801e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	2.801e-05	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.835154	0.34979	D	2.31	0.66127	M	-1.26	0.79176	T	-2.79	0.59059	D	0.526	0.55540	0.222	0.86275	D	0.512	0.81700	D	7	0.47012138	0.59810	T	0.100068	0.77211	D	0.418	0.72780	0.23	0.15705	0.8050721973	0.80324	0.11182315468895598	0.11111	.	.	0.420526981354	0.27908	T	0.034078	0.23177	T	0.11131	0.65489	D	0.0446572	0.73233	D	0.920368134975433	0.57950	D	0.830517	0.49623	T	0.41149142	0.61520	0.4127159	0.65466	0.41149142	0.61521	0.4127159	0.65466	-5.846	0.44973	T	.	.	0.773	0.76081	P	.	.	4.779930	0.77470	26.7	0.99846152033318225	0.92576	0.97537	0.75396	D	AEFBI	0.433800	0.49511	N	0.442787835595365	0.63796	4.620235	0.523508601483309	0.69577	5.380064	0.999998913103559	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	5.284000	0.65431	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.480	0.87563	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3781.33	85	chr15	42685588	.	C	T	3781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1682;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.587;SOR=0.923	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	18	0	1	0
chr15	42692905	42692905	G	A	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.G11327A:p.G3776E	.	434	1087	1	0	0	1	0.00045977	.	.	.	2440110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0580050262035	.	0.000399361	0.0004	0	0	0	0	0.0007	0	0.0003	5.82e-05	9	154602	rs545235526	8.087e-05	7.661e-05	5.559e-05	0.0001	0.0004	6.851e-05	6.407e-05	0.0001	0.0001	0	0.0002	0.0008	0	0	0.0004	4.634e-05	0.0002	0.0002	5.909e-05	5.905e-05	6.424e-05	5.372e-05	0.0002	3.075e-05	2.209e-05	2.846e-05	1.858e-05	0	0	6.535e-05	0.0006	0	0	0	7.35e-05	0	0.0002	0.118	0.28148	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.2	0.30300	L	0.01	0.62459	T	-1.97	0.45587	N	0.156	0.16168	-0.8008	0.55097	T	0.164	0.50111	T	9	0.022960663	0.00588	T	0.058005	0.67166	D	0.193	0.47281	.	.	0.328486982098	0.32448	0.03964377859228244	0.03910	.	.	0.234785377979	0.02341	T	0.008186	0.07532	T	-0.168825	0.25412	T	-0.171415	0.57313	T	0.0262309589160922	0.01437	T	0.505249	0.15946	T	0.06521235	0.13914	0.078732364	0.17660	0.06521235	0.13914	0.078732364	0.17659	-2.814	0.08313	T	.	.	0.096	0.15430	B	.	.	0.738048	0.11073	7.725	0.9834767049961487	0.40507	0.02746	0.07427	N	AEFDBI	0.050397	0.08804	N	-0.197293127286063	0.33247	1.884037	-0.286556330085994	0.28541	1.592139	0.837736349022423	0.24810	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.11	4.12	0.47504	0.321000	0.19306	0.161000	0.15406	0.676000	0.76740	0.269000	0.25036	0.000000	0.08366	0.447000	0.27828	0.1445:0.2403:0.6152:0.0	4.310	0.10406	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2256.33	56	chr15	42692905	.	G	A	2256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.353;DP=1018;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.65;SOR=0.75	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr15	42718752	42718752	G	A	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon32:c.G13843A:p.G4615S	.	429	1089	4	0	0	4	0.00183318	0.9984	0.856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.283130464397	.	.	0.0006	0	0	0	0	0	0	0.0014	7.12e-05	11	154602	rs767082679	0.0002	0.0002	8.695e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	3.971e-05	0	0	0.0009	1.761e-05	6.907e-05	0.0025	4.598e-05	4.593e-05	0	9.401e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999953	0.52396	D	1.78	0.46185	L	-1.76	0.83578	D	-2.13	0.48354	N	0.675	0.68255	0.258	0.86869	D	0.654	0.87943	D	8	0.3428538	0.51308	T	0.28313	0.90302	D	0.577	0.82912	.	.	0.665568045044	0.66275	0.10453184638477157	0.10383	.	.	0.386438071728	0.23166	T	0.012195	0.10762	T	-0.205515	0.20014	T	-0.0812145	0.64815	T	0.170514193309072	0.18615	T	0.842416	0.51891	T	0.2783294	0.50888	0.3918357	0.63944	0.2783294	0.50887	0.3918357	0.63944	-5.758	0.44207	T	.	.	0.261	0.49528	B	.	.	5.045723	0.84013	28.2	0.99641941694223846	0.76695	0.96844	0.71246	D	AEFDGBCI	0.714289	0.66682	D	0.596727232703948	0.72968	5.890285	0.543142964044617	0.70920	5.576974	0.999999977993345	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	6.724000	0.74556	6.626000	0.56136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.0:0.0:1.0:0.0	16.168	0.81595	87	0.96348	START domain|START domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	858.33	34	chr15	42718752	.	G	A	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.749;DP=719;ExcessHet=0;FS=4.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.34;SOR=1.473	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1451	18	0	1	0
chr15	42729615	42729615	G	A	exonic	CDAN1	.	nonsynonymous SNV	CDAN1:NM_138477:exon17:c.C2360T:p.A787V	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	873475	Congenital_dyserythropoietic_anemia,_type_I|Anemia,_congenital_dyserythropoietic,_type_1a|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869|MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.0175297411644	0.0005	0.000998403	0.0006	9.743e-05	0.0002	0.0055	0	0.0003	0	6.085e-05	0.0005239	81	154602	rs138839403	0.0004	0.0004	0.0004	0.0004	0.0025	0.0004	0.0004	0.0021	0.0019	5.974e-05	0.0003	7.653e-05	0.0025	1.872e-05	0.0002	0.0004	0.0003	6.956e-05	0.0004	0.0004	0.0004	0.0003	0.0050	0.0003	0.0003	0.0035	0.0030	7.231e-05	0	0.0003	0	0.0050	0	0	0.0003	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019810	0.27175	N	0.464879	0.99998	0.18612	N	-1.355	0.00654	N	-1.06	0.76819	T	0.96	0.01488	N	0.233	0.26233	-0.9769	0.35705	T	0.158	0.49145	T	10	0.008160323	0.00185	T	0.01753	0.39265	T	0.103	0.29403	.	.	0.117191471859	0.11215	0.371492135375989	0.37063	0.0805848671954	0.09068	0.241395711899	0.02917	T	0.117238	0.43717	T	-0.477057	0.00770	T	-0.455424	0.27099	T	0.00718153730409955	0.00082	T	0.688631	0.29780	T	0.029948713	0.02575	0.04521096	0.06031	0.029948713	0.02574	0.04521096	0.06031	-1.806	0.02527	T	0.040849678322198636	0.00375	0.056	0.00444	B	.	.	1.442028	0.18620	13.83	0.18756881556305091	0.00604	0.11632	0.16761	N	AEFDBCI	0.013967	0.00205	N	-1.02227529827722	0.08142	0.380768	-0.851037764307212	0.13263	0.6870478	0.999553179985763	0.40362	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.6	3.16	0.35406	3.054000	0.49600	6.146000	0.54124	-0.120000	0.14102	0.939000	0.32602	1.000000	0.68203	0.192000	0.21661	0.8582:0.0:0.1418:0.0	9.760	0.39694	83	0.96533	Codanin-1, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	46	chr15	42729615	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.36;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.991;SOR=0.669	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr15	42783459	42783459	A	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon11:c.T1157C:p.M386T	Spinocerebellar ataxia 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2024045	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.00673952045293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs547332107	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.09075	T	0.339	0.18071	T	0.0	0.23653	B	0.003	0.18140	B	0.000001	0.84330	D	0.094754	0.999972	0.53665	D	0.5	0.13406	N	1.18	0.37746	T	0.8	0.02808	N	0.575	0.59732	-1.0884	0.05804	T	0.051	0.21728	T	10	0.17700845	0.32715	T	0.00674	0.17812	T	0.178	0.44724	0.323	0.30387	0.102598925029	0.09809	0.5368540699727744	0.53610	0.289332929805	0.31346	0.625563263893	0.56516	T	0.048849	0.28136	T	-0.122301	0.32750	T	-0.330588	0.41403	T	0.26768230448659	0.23648	T	0.510449	0.33490	T	0.22399172	0.45032	0.18895365	0.42214	0.22399172	0.45032	0.18895365	0.42213	-7.573	0.66505	D	.	.	0.593	0.68578	P	.;.;.;.	.;.;.;.	3.287497	0.45070	22.1	0.46997886285685841	0.03808	0.99772	0.99355	D	AEFBI	0.866327	0.78570	D	-0.0469382095368568	0.39739	2.348389	0.197139633651893	0.49688	3.169213	0.999970374983425	0.50053	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	8.608000	0.90676	9.143000	0.78918	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.710	0.77376	101	0.95833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	924.33	36	chr15	42783459	.	A	G	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.61;DP=714;ExcessHet=0;FS=3.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=2.18;SOR=0.404	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1491	18	0	1	0
chr15	42945444	42945444	C	T	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon47:c.G5135A:p.R1712H	Johanson-Blizzard syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	739622	not_provided|UBR1-related_disorder|Microcephaly	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0056556906481	0.0008	0.00139776	0.0011	0.0010	0.0005	0.0027	0	0.0012	0	0.0012	0.0011384	176	154602	rs141828250	0.0014	0.0014	0.0014	0.0014	0.0093	0.0014	0.0014	0.0085	0.0082	0.0004	0.0005	3.826e-05	0.0093	0.0003	0.0005	0.0013	0.0013	0.0015	0.0010	0.0010	0.0009	0.0010	0.0033	0.0008	0.0008	0.0021	0.0017	0.0004	0	0.0005	0	0.0033	9.488e-05	0	0.0014	0.0005	0.0012	1.0	0.00964	T	0.158	0.31629	T	0.0	0.02946	B	0.0	0.01387	B	0.024751	0.26208	N	0.469935	1	0.81001	D	-0.315	0.03579	N	0.82	0.48142	T	-0.13	0.08971	N	0.037	0.01135	-1.0527	0.13655	T	0.027	0.11663	T	10	0.0035677254	0.00064	T	0.005656	0.14621	T	0.096	0.27654	.	.	0.18274738541	0.17906	0.22469064954747142	0.22384	0.198620745402	0.22241	0.272494256496	0.06468	T	0.090637	0.38627	T	-0.624373	0.00103	T	-0.682875	0.06809	T	0.00884334439180937	0.00109	T	0.779722	0.41422	T	0.024477229	0.01283	0.04015185	0.04273	0.024477229	0.01283	0.04015185	0.04272	-7.123	0.54926	T	0.11110454777500434	0.09463	0.067	0.02609	B	.	.	0.324676	0.06990	3.544	0.78883472307405655	0.12494	0.04647	0.10318	N	AEFGBI	0.038927	0.05581	N	-1.45781591521318	0.02156	0.09489369	-1.35026170259291	0.03802	0.1781263	0.0396624914356251	0.14404	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	-3.91	0.03892	-0.415000	0.07170	-3.279000	0.02911	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.933000	0.47100	0.0:0.3635:0.0:0.6365	15.453	0.75018	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	33	chr15	42945444	.	C	T	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=706;ExcessHet=0;FS=4.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.95;SOR=1.134	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1251,0,933	18	0	1	0
chr15	42958014	42958014	T	C	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon44:c.A4834G:p.R1612G	Johanson-Blizzard syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	0.5576	0.56	.	429667	not_provided|UBR1-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.015320066813	0.0048	0.00319489	0.0055	0.0013	0.0049	0	0.0061	0.0077	0.0055	0.0023	0.0055562	859	154602	rs78948790	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0059	0.0069	0.0068	0.0011	0.0057	0.0027	0	0.0052	0.0078	0.0070	0.0048	0.0018	0.0054	0.0054	0.0055	0.0053	0.0099	0.0051	0.0050	0.0086	0.0081	0.0011	0	0.0099	0.0032	0	0.0055	0.0034	0.0078	0.0057	0.0015	0.107	0.29554	T	0.084	0.41239	T	0.915	0.50599	P	0.236	0.38470	B	0.000006	0.62929	D	0.110120	0.997742	0.81001	D	2.855	0.82945	M	0.79	0.49068	T	-2.51	0.54546	D	0.471	0.50688	-0.9709	0.37009	T	0.091	0.34820	T	10	0.013510913	0.00286	T	0.01532	0.35983	T	0.177	0.44549	.	.	0.57674044448	0.57342	0.7397874352695968	0.73923	0.382795397621	0.39609	0.509729921818	0.40185	T	0.415119	0.76847	T	-0.348751	0.04806	T	-0.268746	0.47945	T	0.0303166855160663	0.02038	T	0.936106	0.76057	D	0.23733293	0.46595	0.2072935	0.44981	0.23733293	0.46595	0.2072935	0.44980	-6.336	0.49007	T	.	.	0.291	0.52243	B	.	.	4.080650	0.60700	24.2	0.99381619934778831	0.61891	0.97967	0.78501	D	AEFBI	0.626260	0.60915	D	0.220732644509983	0.52204	3.396122	0.233264981312213	0.51701	3.350537	0.776528906032286	0.23762	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.95	3.8	0.42887	2.337000	0.43605	4.256000	0.42782	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1476:0.8524	11.766	0.51202	31	0.98186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	982.33	33	chr15	42958014	.	T	C	982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.213;DP=695;ExcessHet=0;FS=6.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.969;SOR=0.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	18	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/0:112,25:137:61:0,61,2077	14	0	5	0
chr15	43169596	43169596	C	T	exonic	TMEM62	.	nonsynonymous SNV	TMEM62:NM_001347019:exon8:c.C685T:p.R229W,TMEM62:NM_001347021:exon8:c.C685T:p.R229W,TMEM62:NM_001347023:exon8:c.C685T:p.R229W,TMEM62:NM_001347025:exon8:c.C685T:p.R229W,TMEM62:NM_001347027:exon8:c.C685T:p.R229W,TMEM62:NM_001347029:exon8:c.C685T:p.R229W,TMEM62:NM_001347030:exon8:c.C643T:p.R215W,TMEM62:NM_001347008:exon9:c.C904T:p.R302W,TMEM62:NM_001347011:exon9:c.C904T:p.R302W,TMEM62:NM_001347012:exon9:c.C904T:p.R302W,TMEM62:NM_001347017:exon9:c.C904T:p.R302W,TMEM62:NM_001347020:exon9:c.C685T:p.R229W,TMEM62:NM_001347024:exon9:c.C685T:p.R229W,TMEM62:NM_001347026:exon9:c.C685T:p.R229W,TMEM62:NM_001347028:exon9:c.C685T:p.R229W,TMEM62:NM_001347031:exon9:c.C1033T:p.R345W,TMEM62:NM_001347033:exon9:c.C1033T:p.R345W,TMEM62:NM_001347034:exon9:c.C676T:p.R226W,TMEM62:NM_001347005:exon10:c.C910T:p.R304W,TMEM62:NM_001347007:exon10:c.C910T:p.R304W,TMEM62:NM_001347009:exon10:c.C904T:p.R302W,TMEM62:NM_001347010:exon10:c.C904T:p.R302W,TMEM62:NM_001347013:exon10:c.C904T:p.R302W,TMEM62:NM_001347014:exon10:c.C910T:p.R304W,TMEM62:NM_001347016:exon10:c.C910T:p.R304W,TMEM62:NM_001347018:exon10:c.C904T:p.R302W,TMEM62:NM_001347004:exon11:c.C910T:p.R304W,TMEM62:NM_001347006:exon11:c.C910T:p.R304W,TMEM62:NM_001347015:exon11:c.C910T:p.R304W,TMEM62:NM_001347032:exon11:c.C1300T:p.R434W,TMEM62:NM_024956:exon11:c.C1300T:p.R434W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0436129403546	.	.	4.122e-05	0	0	0.0005	0	0	0	6.061e-05	3.23e-05	5	154602	rs779738250	2.942e-05	2.941e-05	3.676e-05	2.201e-05	0.0002	2.217e-05	1.97e-05	8.201e-05	5.786e-05	0	2.238e-05	0	0.0002	0	0	2.788e-05	3.312e-05	2.32e-05	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	2.415e-05	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.062472	0.999997	0.58761	D	2.6	0.76081	M	.	.	.	-3.89	0.72820	D	0.732	0.73285	-0.1936	0.77836	T	0.445	0.78136	T	9	0.7262794	0.73994	D	0.043613	0.61074	D	0.545	0.81077	0.493	0.58048	0.445614145163	0.44183	0.7458712579589349	0.74533	0.659821582233	0.58827	0.392966628075	0.24087	T	0.309772	0.68178	T	0.0195639	0.54322	T	0.120327	0.78258	D	0.719489455223083	0.41673	D	0.948405	0.80130	D	0.4624092	0.64821	0.43834847	0.67223	0.4624092	0.64821	0.43834847	0.67224	-7.57	0.58101	D	.	.	0.254	0.48918	B	.	.	5.212522	0.87464	29.2	0.99926358181799457	0.99103	0.92059	0.54854	D	AEFBI	0.696728	0.65497	D	0.764724216771939	0.83860	8.129445	0.749143382393771	0.86093	8.780277	0.99999999917679	0.74766	0.538715	0.22204	0	0.601575	0.49859	0	0.602189	0.34648	0	0.563494	0.21769	0	.	.	5.96	5.96	0.96695	4.167000	0.57999	7.534000	0.59965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.12	0.86576	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	983.33	33	chr15	43169596	.	C	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.025;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	18	0	1	0
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017641	0.015152	0.024457	0.038235	0.000000	0.000000	0.000000	0.000000	0.02632	666.33	38	chr15	43191645	.	T	C	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=755;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.286;SOR=0.368	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	43235738	43235738	C	T	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon9:c.G1199A:p.R400K,TGM5:NM_201631:exon10:c.G1445A:p.R482K	Peeling skin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0222804418498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.899	0.03161	T	0.0	0.07471	B	0.001	0.06944	B	0.022920	0.01583	N	2.739120	1	0.08975	N	1.445	0.36358	L	-1.17	0.78199	T	-0.42	0.14193	N	0.047	0.06322	-0.9400	0.42616	T	0.248	0.61704	T	10	0.057530522	0.06623	T	0.02228	0.45152	T	0.108	0.30607	0.254	0.19378	0.332133492242	0.32818	0.285202158648211	0.28433	0.147450757284	0.16638	0.226781696081	0.01738	T	0.017169	0.15948	T	-0.203184	0.20346	T	-0.529636	0.19322	T	0.110395364463329	0.13463	T	0.586341	0.21412	T	0.05707829	0.11314	0.040563837	0.04412	0.05707829	0.11313	0.040563837	0.04412	-4.194	0.26665	T	.	.	0.076	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.678104	0.10466	7.184	0.82789088625036433	0.14376	0.04237	0.09759	N	AEFDBI	0.044080	0.07050	N	-1.0407603837013	0.07770	0.3620799	-1.03855970076978	0.08947	0.4424818	0.998208038185634	0.36574	0.562547	0.31514	0	0.653731	0.59785	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.8	0.495	0.16098	0.140000	0.15877	1.155000	0.24510	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4288:0.2724:0.2988	5.265	0.14906	15	0.98792	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1271.33	35	chr15	43235738	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.368;SOR=0.656	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr15	43240864	43240864	T	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon6:c.A743T:p.K248M,TGM5:NM_201631:exon7:c.A989T:p.K330M	Peeling skin syndrome 2, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	338967	Acral_peeling_skin_syndrome|not_provided	MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.199842821306	7.7e-05	0.000399361	0.0005	0	0	0	0	0.0001	0.0033	0.0031	0.0004075	63	154602	rs201805126	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	5.975e-05	2.236e-05	0	0	0	0.0012	6.745e-05	0.0004	0.0026	0.0001	0.0001	7.709e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0	0.0019	0.008	0.58626	D	0.039	0.51112	D	0.909	0.73220	P	0.866	0.68059	P	0.000868	0.41335	D	0.231893	0.718985	0.29941	N	2.485	0.72352	M	-2.43	0.88689	D	-2.73	0.58085	D	0.497	0.53972	0.318	0.87846	D	0.707	0.89911	D	10	0.017929494	0.00386	T	0.199843	0.86675	D	0.538	0.80664	.	.	0.768130985018	0.76600	0.5314309952880202	0.53068	0.73787972437	0.63083	0.432078063488	0.29492	T	0.22466	0.86781	T	-0.261657	0.12708	T	-0.152306	0.59038	T	0.147743650922521	0.16922	T	0.546745	0.20563	T	0.27050513	0.50123	0.265938	0.52432	0.31301102	0.54045	0.29437104	0.55466	-7.389	0.56827	T	0.5039485173676317	0.57873	0.180	0.39613	B	.;.;.;.;.	.;.;.;.;.	3.659112	0.51976	23.2	0.99557655168147041	0.71583	0.78772	0.38915	D	AEFBI	0.460775	0.51081	N	0.174394596270673	0.49972	3.191869	0.109576006589017	0.45037	2.774107	0.999993037261078	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.27	0.50009	0.211000	0.17268	4.364000	0.43127	0.601000	0.45875	0.114000	0.23067	1.000000	0.68203	0.982000	0.59238	0.0:0.0867:0.0:0.9133	9.226	0.36569	15	0.98792	Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.050000	0.000000	0.000000	0.011364	0.02632	1696.33	33	chr15	43240864	.	T	A	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.076;DP=769;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.307;SOR=0.841	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1306	18	0	1	0
chr15	43279206	43279206	C	T	exonic	TGM7	.	nonsynonymous SNV	TGM7:NM_052955:exon11:c.G1750A:p.V584M	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0049	0.00179712	0.0055	0.0015	0.0017	0	0.0171	0.0072	0.0099	0.0019	0.0055821	863	154602	rs140755102	0.0078	0.0078	0.0079	0.0076	0.0088	0.0076	0.0076	0.0086	0.0086	0.0010	0.0022	0.0031	0	0.0176	0.0003	0.0088	0.0058	0.0012	0.0059	0.0059	0.0056	0.0061	0.0080	0.0055	0.0054	0.0075	0.0073	0.0013	0	0.0029	0.0040	0	0.0198	0.0102	0.0080	0.0052	0.0010	0.037	0.43085	D	0.008	0.67890	D	0.338	0.33405	B	0.015	0.17295	B	0.002555	0.36353	N	0.233360	0.978469	0.25247	N	1.525	0.38595	L	1.27	0.36146	T	-1.48	0.36189	N	0.397	0.43803	-1.0144	0.25529	T	0.051	0.21806	T	10	0.008108467	0.00184	T	.	.	.	0.084	0.24469	.	.	0.307332253619	0.30352	0.5670620872321771	0.56634	0.158752281462	0.17918	0.499527901411	0.38762	T	0.021878	0.16964	T	-0.471275	0.00834	T	-0.441768	0.28610	T	0.011701612972204	0.00179	T	0.686731	0.29555	T	0.078764066	0.17957	0.10791487	0.25986	0.078764066	0.17957	0.10791487	0.25986	-5.933	0.45716	T	.	.	0.225	0.45690	B	.	.	3.121859	0.42153	21.5	0.99384569915180476	0.62024	0.13504	0.17893	N	AEFDBI	0.046962	0.07858	N	-0.166240791405436	0.34547	1.973144	-0.129570926148562	0.34203	1.964886	0.978286560829729	0.29906	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	2.36	0.28258	0.486000	0.22048	1.034000	0.23503	0.530000	0.24713	0.373000	0.25949	0.542000	0.25421	0.821000	0.38685	0.0:0.5968:0.2012:0.202	4.529	0.11399	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.005051	0.000000	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	1913.33	33	chr15	43279206	.	C	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=884;ExcessHet=0;FS=2.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.12;SOR=0.75	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr15	43366648	43366648	T	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon3:c.A684C:p.R228S,ZSCAN29:NM_001372080:exon4:c.A684C:p.R228S	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00127099583084	0.0004	0.000798722	0.0009	0.0003	0.0007	0.0003	0	0.0003	0.0033	0.0045	0.0008215	127	154602	rs144725049	0.0005	0.0005	0.0004	0.0007	0.0055	0.0005	0.0005	0.0048	0.0047	0.0003	0.0003	0	7.557e-05	0	0.0055	0.0002	0.0007	0.0052	0.0005	0.0005	0.0004	0.0005	0.0058	0.0004	0.0003	0.0041	0.0036	0.0003	0	6.531e-05	0	0.0004	0	0.0034	0.0004	0	0.0058	0.108	0.30235	T	0.025	0.56192	D	0.0	0.12183	B	0.0	0.10090	B	0.981929	0.08088	N	0.991997	1	0.08975	N	0.46	0.12951	N	3.15	0.07820	T	-1.46	0.46673	N	0.043	0.03502	-0.9671	0.37794	T	0.013	0.05225	T	10	0.002346456	0.00035	T	0.001271	0.01733	T	0.034	0.08419	0.349	0.34598	0.0716867268079	0.06686	0.0848550349367013	0.08419	0.105014416328	0.11870	0.257753252983	0.04626	T	0.013195	0.19670	T	-0.626309	0.00101	T	-0.672022	0.07478	T	0.0080243894993895	0.00095	T	0.635136	0.24942	T	0.092038184	0.21582	0.097462766	0.23199	0.092038184	0.21581	0.097462766	0.23198	-2.902	0.09163	T	.	.	0.232	0.46458	B	.;.;.;.	.;.;.;.	-0.343907	0.02430	0.275	0.84055477668051215	0.15071	0.02371	0.06746	N	AEFBI	0.056345	0.10408	N	-1.53725029012623	0.01610	0.07039185	-1.60965286198305	0.01597	0.07246003	0.999999989380312	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.26	-8.52	0.00801	-1.221000	0.03077	-1.717000	0.04857	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.955000	0.50612	0.0:0.0776:0.7622:0.1603	15.106	0.71992	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2206.33	34	chr15	43366648	.	T	G	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.043;SOR=0.7	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2220,0,1983	18	0	1	0
chr15	43369112	43369112	T	C	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon2:c.A334G:p.K112E,ZSCAN29:NM_001372080:exon3:c.A334G:p.K112E	.	426	1088	6	2	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.00319489	0.0014	0	8.681e-05	0	0	1.538e-05	0	0.0140	0.0013907	215	154602	rs576124859	0.0006	0.0007	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	3.081e-05	0.0002	8.225e-05	2.573e-05	0	0.0009	5.508e-06	0.0008	0.0103	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.406e-05	0	0.0001	0	0	0	0	2.94e-05	0	0.0145	0.481	0.24955	T	0.557	0.15109	T	0.993	0.65571	D	0.971	0.72444	D	0.000195	0.48115	D	0.000000	0.884664	0.27989	N	2.08	0.57402	M	3.21	0.07236	T	-0.52	0.17003	N	0.501	0.54496	-1.0510	0.14119	T	0.033	0.14247	T	10	0.0058447123	0.00130	T	.	.	.	0.092	0.26621	0.306	0.27646	0.255777322467	0.25185	0.4342227227411806	0.43339	0.570105786278	0.53176	0.639073371887	0.58432	T	0.002625	0.08127	T	-0.375335	0.03333	T	-0.302524	0.44459	T	0.0469593695520166	0.04958	T	0.0618938	0.00602	T	0.18116854	0.39274	0.106476456	0.25617	0.18116854	0.39274	0.106476456	0.25616	-4.251	0.27484	T	.	.	0.293	0.52418	B	.;.;.;.	.;.;.;.	3.454517	0.48119	22.6	0.95770948011286927	0.27778	0.67931	0.33613	D	AEFBCI	0.299550	0.40858	N	-0.0985778801183515	0.37454	2.17931	-0.0176098948465346	0.38919	2.299945	0.999581926391687	0.40607	0.722319	0.85440	0	0.662677	0.63036	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.72	1.77	0.23848	1.461000	0.34866	4.867000	0.45528	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.4151:0.5849	10.723	0.45251	16	0.98727	SCAN domain;SCAN domain;SCAN domain;SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	795.33	32	chr15	43369112	.	T	C	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=615;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.345;SOR=1.209	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,981	18	0	1	0
chr15	43421079	43421079	G	A	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon20:c.C4196T:p.T1399M,TP53BP1:NM_001141980:exon20:c.C4196T:p.T1399M,TP53BP1:NM_005657:exon20:c.C4181T:p.T1394M,TP53BP1:NM_001355001:exon21:c.C1316T:p.T439M	.	422	1092	8	0	0	8	0.00364964	.	.	.	758712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.013232764584	7.7e-05	0.000399361	0.0007	0	0	0	0	9.002e-05	0.0033	0.0045	0.0005563	86	154602	rs200691218	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	5.974e-05	2.236e-05	3.826e-05	2.519e-05	0	0.0012	7.644e-05	0.0003	0.0040	0.0001	0.0001	6.422e-05	0.0002	0.0025	8.657e-05	7.25e-05	0.0014	0.0011	0	0	0	0	0	0	0.0034	0.0001	0	0.0025	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000062	0.52346	D	0.121047	0.986631	0.81001	D	2.045	0.56016	M	3.36	0.05918	T	-2.55	0.55181	D	0.346	0.42931	-1.1394	0.01380	T	0.042	0.18076	T	10	0.009740233	0.00219	T	0.013233	0.32470	T	0.162	0.41843	.	.	0.263709349026	0.25991	0.3476731069296314	0.34681	1.74205220635	0.90873	0.778426110744	0.78691	T	0.664096	0.89954	D	-0.437985	0.01329	T	-0.401919	0.33161	T	0.193006172776222	0.20020	T	0.931307	0.74459	D	0.33120018	0.55569	0.31619275	0.57601	0.33120018	0.55569	0.31619275	0.57600	-8.847	0.66707	D	.	.	0.421	0.60725	A	.;.;.	.;.;.	4.725613	0.76062	26.4	0.99889203722948816	0.96359	0.97069	0.72509	D	AEFDBI	0.546325	0.56047	D	0.637568227512038	0.75566	6.32876	0.666946965360565	0.79878	7.176436	0.999998909707621	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.535000	0.66885	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.581	0.95460	18	0.98631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	1776.33	36	chr15	43421079	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.985;DP=737;ExcessHet=0;FS=3.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-0.314;SOR=0.399	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	18	0	1	0
chr15	43432573	43432573	-	TCA	exonic	TP53BP1	.	nonframeshift insertion	TP53BP1:NM_001141979:exon17:c.3295_3296insTGA:p.I1098_S1099insM,TP53BP1:NM_001141980:exon17:c.3295_3296insTGA:p.I1098_S1099insM,TP53BP1:NM_005657:exon17:c.3280_3281insTGA:p.I1093_S1094insM,TP53BP1:NM_001355001:exon18:c.415_416insTGA:p.I138_S139insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0.0003	0	0	0.0004	0	0	0.0002005	31	154602	rs770061239	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0	0.0004	0	0	0	0	0.0003	4.967e-05	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0004	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1421.29	33	chr15	43432573	.	C	CTCA	1421.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=752;ExcessHet=0;FS=6.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.827;SOR=1.469	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr15	43477653	43477653	A	G	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon8:c.T895C:p.S299P,TP53BP1:NM_001141980:exon8:c.T895C:p.S299P,TP53BP1:NM_005657:exon8:c.T880C:p.S294P	.	422	1075	25	0	0	25	0.0114943	.	.	.	717955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0064	0.00319489	0.0064	0.0008	0.0022	0	0.0039	0.0076	0.0022	0.0125	0.0063647	984	154602	rs61751060	0.0070	0.0070	0.0067	0.0073	0.0139	0.0069	0.0068	0.0133	0.0130	0.0008	0.0032	0.0069	2.521e-05	0.0033	0.0111	0.0072	0.0062	0.0139	0.0048	0.0048	0.0049	0.0048	0.0120	0.0045	0.0044	0.0095	0.0086	0.0009	0	0.0047	0.0049	0	0.0024	0.0034	0.0075	0.0061	0.0120	0.078	0.41364	T	0.172	0.30241	T	0.992	0.64738	D	0.981	0.75168	D	0.100541	0.19882	N	0.443981	0.928755	0.28855	N	2.3	0.65703	M	3.63	0.11189	T	-1.19	0.48184	N	0.255	0.35620	-1.0849	0.06426	T	0.038	0.16333	T	10	0.005440235	0.00120	T	.	.	.	0.071	0.20720	.	.	0.312529679308	0.30857	0.11211295233820184	0.11140	0.279315344121	0.30423	0.349700629711	0.17878	T	0.252361	0.62274	T	-0.487052	0.00674	T	-0.461362	0.26450	T	0.0203654917493927	0.00736	T	0.829717	0.49530	T	0.07854128	0.17891	0.12804876	0.30812	0.07854128	0.17891	0.12804876	0.30812	-4.526	0.31227	T	.	.	0.128	0.27403	B	.;.;.;.;.	.;.;.;.;.	3.245978	0.44328	21.9	0.99689671145336156	0.79842	0.66100	0.32961	D	AEFDBI	0.304585	0.41224	N	0.229170947818217	0.52616	3.434786	0.161070637973126	0.47730	2.999014	0.912351589583928	0.26393	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.57	0.22490	1.029000	0.29747	4.432000	0.43354	-0.095000	0.16041	0.973000	0.34540	0.999000	0.35428	0.989000	0.64315	0.5007:0.337:0.0:0.1622	5.866	0.18024	17	0.98681	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.006793	0.008772	0.000000	0.000000	0.021341	0.026515	0.07895	3941.79	33	chr15	43477653	.	A	G	3941.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.26;DP=852;ExcessHet=0.3672;FS=0.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.119;SOR=0.769	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1447,0,1155	16	0	3	0
chr15	43528806	43528806	C	T	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.C7333T:p.R2445C	.	427	1093	2	0	0	2	0.000914077	.	.	.	2274510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00647042331546	0.0010	.	0.0007	0.0002	0	0	0.0002	0.0011	0	0.0005	0.000718	111	154602	rs199715888	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0013	0.0001	8.948e-05	0	0	0.0001	0.0010	0.0013	0.0009	0.0003	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	0.0003	0	0.0003	0	0	9.416e-05	0	0.0012	0.0014	0.0008	0.228	0.18434	T	0.032	0.53426	D	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.49	0.13296	N	4.94	0.01385	T	-1.63	0.42957	N	0.119	0.11769	-0.9243	0.44957	T	0.004	0.01125	T	9	0.01504153	0.00316	T	0.00647	0.17043	T	0.020	0.03691	.	.	0.043077524339	0.03247	0.2154883761039171	0.21464	0.25712712835	0.28284	0.238991975784	0.02700	T	0.264584	0.63637	T	-0.672029	0.00053	T	-0.737146	0.04011	T	0.00491185209940527	0.00053	T	0.763224	0.40598	T	0.06913658	0.15121	0.04600111	0.06313	0.06913658	0.15121	0.04600111	0.06313	-4.869	0.35385	T	.	.	0.076	0.06024	B	.;.	.;.	0.823563	0.11949	8.509	0.5794817657820015	0.05882	0.05180	0.10999	N	AEFDBCI	0.079328	0.16021	N	-1.04364013814408	0.07713	0.3592437	-1.08559724802774	0.07983	0.3905694	0.999976259819386	0.50053	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.63	-2.08	0.06852	0.585000	0.23580	-0.604000	0.08255	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.2272:0.3587:0.0:0.414	4.895	0.13102	19	0.98577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2194.33	174	chr15	43528806	.	C	T	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=913;ExcessHet=0;FS=1.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.178;SOR=0.566	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr15	43635775	43635775	C	T	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon9:c.G1091A:p.R364Q,CATSPER2:NM_172095:exon9:c.G1073A:p.R358Q,CATSPER2:NM_001282309:exon10:c.G1073A:p.R358Q	.	420	1059	40	3	0	46	0.0212569	.	.	.	2817519	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.300	.	0.0065	0.00439297	0.0069	0.0013	0.0040	0	0.0006	0.0080	0.0056	0.0138	0.0066429	1027	154602	rs148320269	0.0077	0.0077	0.0073	0.0081	0.0144	0.0076	0.0075	0.0137	0.0134	0.0015	0.0043	0.0086	0	0.0011	0.0130	0.0080	0.0077	0.0144	0.0056	0.0056	0.0055	0.0057	0.0150	0.0053	0.0051	0.0122	0.0112	0.0016	0	0.0075	0.0110	0	0.0004	0.0102	0.0079	0.0071	0.0150	0.395	0.10694	T	0.226	0.25438	T	0.0	0.02946	B	0.0	0.01387	B	0.007082	0.01154	N	18.738300	1	0.45528	N	0.41	0.12415	N	-3.98	0.96308	D	0.59	0.02558	N	0.087	0.06587	-0.1349	0.79287	T	0.621	0.86638	D	10	0.0065864027	0.00149	T	.	.	.	0.300	0.62068	.	.	0.340753184043	0.33682	0.1604080803692995	0.15961	0.254823423877	0.28066	0.228639245033	0.01869	T	0.02409	0.18267	T	-0.423025	0.01636	T	-0.368098	0.37111	T	0.0016811674691884	0.00017	T	0.70483	0.31518	T	0.025788074	0.01557	0.028524682	0.01096	0.031156464	0.02906	0.028524682	0.01095	-3.221	0.12901	T	.	.	0.062	0.02118	B	.;.;.	.;.;.	1.844983	0.23437	16.02	0.83343577433187421	0.14674	0.13270	0.17761	N	AEFGI	0.063482	0.12270	N	-1.39972487360096	0.02642	0.1169304	-1.29332230661909	0.04520	0.2133892	5.19079021340073E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.62	0.808	0.17861	1.490000	0.35181	5.841000	0.50249	-1.365000	0.01177	0.994000	0.38300	1.000000	0.68203	0.004000	0.06068	0.3882:0.3811:0.0885:0.1423	2.454	0.04249	7	0.99271	.;.;.	CTD-2036P10.5|ZSCAN29	Artery_Tibial|Testis	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	538.33	52	chr15	43635775	.	C	T	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.18;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	18	0	1	0
chr15	43774718	43774718	A	G	exonic	ELL3	.	nonsynonymous SNV	ELL3:NM_025165:exon7:c.T701C:p.L234P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0473225009227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.014868	0.28406	N	0.170336	0.999995	0.58761	D	1.935	0.51832	L	1.54	0.30133	T	0.01	0.06868	N	0.42	0.45992	-0.8741	0.50219	T	0.172	0.51389	T	10	0.46375853	0.59444	T	0.047323	0.62870	D	0.278	0.59497	0.443	0.49975	0.656034106405	0.65316	0.48139843092282486	0.48059	0.938218820823	0.72115	0.382998019457	0.22682	T	0.084347	0.37257	T	-0.0127493	0.49879	T	-0.25609	0.49213	T	0.752443822947832	0.43422	D	0.658334	0.26756	T	0.19279826	0.40964	0.22753665	0.47766	0.19279826	0.40964	0.22753665	0.47765	-3.161	0.12010	T	.	.	0.096	0.15296	B	.	.	3.370319	0.46573	22.3	0.99855498334029758	0.93458	0.85464	0.44599	D	AEFDBCI	0.634808	0.61454	D	0.501061097567554	0.67154	5.043821	0.409583849746854	0.62159	4.426994	0.999996404669723	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.508809	0.08732	0	.	.	4.15	4.15	0.47978	3.582000	0.53665	2.190000	0.31200	0.756000	0.94297	0.999000	0.42656	0.993000	0.31925	0.554000	0.30269	1.0:0.0:0.0:0.0	9.852	0.40230	6	0.99319	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	36	chr15	43774718	.	A	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.955;DP=797;ExcessHet=0;FS=2.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.698;SOR=0.876	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	43775832	43775832	C	T	exonic	ELL3	.	nonsynonymous SNV	ELL3:NM_025165:exon4:c.G373A:p.V125I	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00468049856844	0.0003	0.000798722	0.0006	9.615e-05	0	0	0	0.0007	0	0.0015	0.000511	79	154602	rs142769297	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0010	0.0009	0	2.236e-05	0	0	3.744e-05	0.0007	0.0004	0.0003	0.0011	0.0003	0.0003	0.0003	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.811e-05	0	0	0	0	0	0.0034	0.0005	0	0.0017	0.186	0.32296	T	0.448	0.13030	T	0.0	0.02946	B	0.003	0.08700	B	0.132505	0.02820	N	1.836280	1	0.08975	N	0.695	0.17993	N	1.56	0.29602	T	-0.17	0.10308	N	0.142	0.14196	-1.0285	0.20940	T	0.071	0.28773	T	10	0.007483721	0.00170	T	0.00468	0.11628	T	0.070	0.20419	.	.	0.246773566709	0.24272	0.09446491722933507	0.09378	0.152658950444	0.17223	0.290046334267	0.08929	T	0.003828	0.03242	T	-0.567953	0.00228	T	-0.629135	0.10480	T	0.00336515507660806	0.00035	T	0.572443	0.20452	T	0.043489713	0.06788	0.049590144	0.07611	0.043489713	0.06788	0.049590144	0.07610	-3.886	0.22092	T	.	.	0.082	0.15698	B	.;.	.;.	1.891221	0.24020	16.24	0.88348388297384162	0.17906	0.05121	0.10926	N	AEFDGBHCI	0.053963	0.09771	N	-0.735092492738481	0.15041	0.7545473	-0.735057195907876	0.16091	0.8495228	0.999999802269956	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.664235	0.64389	0	.	.	5.67	1.23	0.20358	0.804000	0.26758	0.626000	0.20179	0.599000	0.40250	0.043000	0.21118	0.940000	0.28757	0.854000	0.40426	0.0:0.5521:0.282:0.1659	7.149	0.24776	6	0.99319	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2346.33	33	chr15	43775832	.	C	T	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.037;SOR=0.729	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr15	43839648	43839648	A	G	exonic	WDR76	.	nonsynonymous SNV	WDR76:NM_001167941:exon5:c.A460G:p.M154V,WDR76:NM_024908:exon5:c.A652G:p.M218V	.	.	.	.	.	.	.	.	.	.	.	3356421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0382354208556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970854697	6.161e-06	6.156e-06	6.811e-06	5.505e-06	4.479e-05	2.9e-06	2.1e-06	7.42e-06	2.78e-06	0	4.479e-05	0	2.523e-05	0	0	8.998e-07	6.63e-05	1.161e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.548e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	6.548e-05	0	0	0	0	0	0	0	0.016	0.61437	D	0.056	0.46632	T	0.925	0.51395	P	0.548	0.49136	P	0.000000	0.84330	D	0.047019	0.941607	0.37340	D	2.855	0.82945	M	-0.05	0.63403	T	-1.93	0.53096	N	0.709	0.71232	-0.2948	0.75130	T	0.305	0.67612	T	10	0.3315259	0.50373	T	0.038235	0.58102	D	0.256	0.56694	0.351	0.34922	0.689248121995	0.68658	0.46712272935953975	0.46631	0.330573733271	0.35134	0.467969805002	0.34401	T	0.034352	0.25685	T	0.0995453	0.64243	D	-0.0947865	0.63798	T	0.974612653255463	0.70582	D	0.839216	0.51320	T	0.367632	0.58409	0.29872832	0.55907	0.367632	0.58410	0.29872832	0.55906	-6.777	0.52388	T	.	.	0.204	0.66575	B	.;.;.	.;.;.	4.145017	0.62127	24.4	0.99363259548019833	0.61113	0.94175	0.60340	D	AEFBI	0.481487	0.52275	N	0.509473814243931	0.67647	5.109785	0.489544179589972	0.67294	5.064971	0.999902857826368	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	5.585000	0.67191	6.874000	0.56796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	1.0:0.0:0.0:0.0	12.526	0.55431	6	0.99319	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	632.33	33	chr15	43839648	.	A	G	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=672;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.08;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	18	0	1	0
chr15	44337893	44337893	T	C	exonic	GOLM2	.	nonsynonymous SNV	GOLM2:NM_138423:exon5:c.T707C:p.I236T,GOLM2:NM_177974:exon5:c.T707C:p.I236T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0398281048044	.	0.000399361	0.0003	0	0	0	0	0	0	0.0025	0.0002846	44	154602	rs544189564	0.0001	0.0001	7.859e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	0	8.38e-05	0.0023	0.0002	0.0002	8.992e-05	0.0002	0.0046	0.0001	8.711e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.29	0.33254	T	0.407	0.26467	T	0.372	0.34134	B	0.114	0.31755	B	0.384717	0.13340	N	0.743996	1	0.81001	D	2.005	0.54552	M	-1.77	0.83660	D	-1.35	0.34198	N	0.207	0.27197	-0.7893	0.55770	T	0.320	0.68952	T	10	0.006650001	0.00151	T	0.039828	0.59031	D	0.144	0.38394	0.267	0.21418	0.660773096359	0.65793	0.06442870739589655	0.06381	0.752499304445	0.63842	0.464911669493	0.33982	T	.	.	.	-0.318983	0.06981	T	-0.236211	0.51169	T	0.0638012650819539	0.07753	T	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-4.532	0.31305	T	.	.	0.118	0.33412	B	.;.;.	.;.;.	1.728102	0.21993	15.44	0.95865611001896589	0.28033	0.67932	0.33613	D	AEFBI	0.146715	0.27023	N	-0.326111450973241	0.28158	1.550903	-0.192834205785835	0.31798	1.802997	0.161238498428531	0.17596	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.22	2.98	0.33575	1.027000	0.29721	0.726000	0.21050	0.661000	0.55757	0.998000	0.41325	0.003000	0.18671	1.000000	0.97212	0.0:0.0906:0.1964:0.713	5.795	0.17647	162	0.93704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1496.33	36	chr15	44337893	.	T	C	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.221;DP=744;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.42;SOR=0.537	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	18	0	1	0
chr15	44564566	44564566	A	G	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon37:c.T6793C:p.F2265L,SPG11:NM_025137:exon39:c.T7132C:p.F2378L	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	17	1503	2	0	0	2	0.000664894	.	.	.	213128	Hereditary_spastic_paraplegia_11|not_specified|not_provided|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2X|Amyotrophic_lateral_sclerosis_type_5|Hereditary_spastic_paraplegia|Intellectual_disability	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.0822279793157	0.0003	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0	0.0001358	21	154602	rs150571352	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0050	0.0044	0.0001	0.0004	0	0	0	0.0066	0.0001	0.0002	0.0001	0.0001	0.0001	8.991e-05	0.0001	0.0002	7.09e-05	5.746e-05	7.907e-05	5.993e-05	2.412e-05	0	0.0002	0	0	0	0.0063	0.0001	0.0005	0	0.008	0.58626	D	0.026	0.56640	D	0.998	0.73220	D	0.95	0.68788	D	0.000105	0.50451	D	0.207957	0.99998	0.81001	D	2.215	0.62545	M	-1.0	0.76037	T	-1.02	0.28906	N	0.809	0.81261	-0.1462	0.79010	T	0.506	0.81392	D	10	0.6457062	0.69313	D	0.082228	0.73856	D	0.340	0.66202	0.302	0.27003	0.763591142311	0.76143	0.49356896821873847	0.49277	0.179086514007	0.20148	0.564594507217	0.47915	T	0.066045	0.32845	T	-0.140468	0.29816	T	-0.111588	0.62484	T	0.099732825805945	0.12328	T	0.865513	0.62748	D	0.15253887	0.34622	0.18333335	0.41316	0.1657892	0.36873	0.15869977	0.37047	-4.181	0.26476	T	0.4873593452049235	0.56488	0.872	0.80964	P	.;.	.;.	4.357689	0.66984	25.0	0.99850363376235829	0.93013	0.95509	0.65004	D	AEFBCI	0.566703	0.57258	D	0.488116175224291	0.66393	4.944529	0.497758181772501	0.67840	5.138368	0.991374681155731	0.32467	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	6.17	5.04	0.67293	4.810000	0.62289	9.357000	0.80345	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7291:0.0:0.0:0.2709	9.941	0.40750	170	0.93412	Spatacsin, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004049	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1168.33	33	chr15	44564566	.	A	G	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=718;ExcessHet=0;FS=3.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.328;SOR=0.392	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr15	44651744	44651744	T	-	exonic	SPG11	.	frameshift deletion	SPG11:NM_001160227:exon6:c.1203delA:p.D402Ifs*14,SPG11:NM_025137:exon6:c.1203delA:p.D402Ifs*14	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	49692	Hereditary_spastic_paraplegia_11|Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis_type_5|Charcot-Marie-Tooth_disease_axonal_type_2X|See_cases|SPG11-related_disorder	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.642e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs312262722	6.156e-06	6.156e-06	5.445e-06	6.875e-06	2.236e-05	2.9e-06	2.1e-06	3.09e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.194e-06	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2399.29	34	chr15	44651743	.	CT	C	2399.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.838;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	18	0	1	0
chr15	44657156	44657156	C	T	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon4:c.G808A:p.V270I,SPG11:NM_025137:exon4:c.G808A:p.V270I	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	49790	Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_11|Charcot-Marie-Tooth_disease_axonal_type_2X|not_specified|Inborn_genetic_diseases|not_provided|Amyotrophic_lateral_sclerosis_type_5	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MONDO:MONDO:0014726,MedGen:C5569024,OMIM:616668,Orphanet:466775|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011196,MedGen:C1865864,OMIM:602099,Orphanet:300605	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0102	0.00319489	0.0061	0.0094	0.0063	0	0.0085	0.0074	0.0089	0.0009	0.0063583	983	154602	rs80338868	0.0082	0.0082	0.0084	0.0080	0.0095	0.0081	0.0081	0.0093	0.0093	0.0088	0.0044	0.0053	5.039e-05	0.0067	0.0017	0.0095	0.0065	0.0011	0.0080	0.0080	0.0087	0.0074	0.0094	0.0077	0.0075	0.0088	0.0086	0.0087	0.0175	0.0047	0.0066	0.0002	0.0084	0	0.0094	0.0076	0.0010	0.036	0.45756	D	0.084	0.92824	T	0.954	0.62824	P	0.568	0.54560	P	0.000566	0.43250	D	0.157745	0.838595	0.35030	D	2.585	0.75554	M	1.25	0.36512	T	-0.46	0.15379	N	0.16	0.21449	-0.7684	0.56945	T	0.131	0.44228	T	10	0.0037087202	0.00068	T	.	.	.	0.085	0.24743	.	.	0.323615622048	0.31974	0.28952331646831464	0.28865	0.226377635705	0.25196	0.298920989037	0.10241	T	0.023793	0.19213	T	-0.492818	0.00627	T	-0.470288	0.25485	T	0.0355522876504301	0.02903	T	0.775922	0.43364	T	0.081793174	0.18812	0.08141546	0.18500	0.0991322	0.23392	0.07964499	0.17948	-2.98	0.09967	T	0.4621403308800681	0.54416	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	1.731179	0.22032	15.45	0.99723898268419575	0.82266	0.44517	0.27336	N	AEFGBIJ	0.091384	0.18511	N	0.242981886219276	0.53291	3.498804	0.176585574539979	0.48568	3.070903	0.999999995513559	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	1.121000	0.30897	0.581000	0.19707	0.596000	0.33519	0.416000	0.26298	0.176000	0.23382	0.571000	0.30675	0.0:1.0:0.0:0.0	17.625	0.87994	142	0.94345	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1081.33	34	chr15	44657156	.	C	T	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.678;DP=768;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.101;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	18	0	1	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.05263	641.83	45	chr15	45061087	.	C	T	641.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.61;DP=1049;ExcessHet=0.119;FS=10.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.24;MQRankSum=-7.437;QD=1.88;ReadPosRankSum=-0.786;SOR=1.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1575:.	17	0	2	0
chr15	45105795	45105795	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon18:c.G2182A:p.A728T,DUOX2:NM_014080:exon18:c.G2182A:p.A728T	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1465	57	0	0	57	0.0190827	.	.	YES	237177	Thyroid_dyshormonogenesis_6|not_provided|DUOX2-related_disorder|Meckel_syndrome,_type_11	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900|.|MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0058	0.00778754	0.0076	0.0013	0.0118	0	0.0033	0.0104	0.0033	0.0033	0.0074514	1152	154602	rs138353181	0.0078	0.0078	0.0079	0.0078	0.0159	0.0077	0.0076	0.0150	0.0146	0.0014	0.0159	0.0071	2.519e-05	0.0042	0.0121	0.0085	0.0083	0.0031	0.0072	0.0072	0.0067	0.0077	0.0218	0.0069	0.0067	0.0199	0.0191	0.0011	0	0.0218	0.0060	0.0006	0.0039	0.0102	0.0089	0.0128	0.0041	0.374	0.11406	T	0.564	0.08991	T	0.007	0.14184	B	0.002	0.06944	B	0.825073	0.06907	N	1.074620	1	0.08975	N	0.97	0.24054	L	-2.02	0.85542	D	-0.95	0.25332	N	0.038	0.01203	-1.0243	0.22311	T	0.020	0.08313	T	9	0.0038830042	0.00074	T	.	.	.	0.009	0.00846	.	.	0.593685261966	0.59046	0.12669786870932603	0.12595	0.0572892944511	0.06337	0.230289101601	0.01990	T	0.010733	0.33964	T	-0.553604	0.00277	T	-0.55371	0.16972	T	0.000279041109012629	0.00002	T	0.230377	0.03106	T	0.028533112	0.02204	0.061529506	0.11895	0.037409693	0.04789	0.06051655	0.11538	-4.698	0.33380	T	0.13918727483568746	0.15466	0.071	0.03698	B	.;.	.;.	-0.482651	0.01923	0.162	0.89768629720559379	0.19084	0.01838	0.05698	N	AEFDBI	0.063008	0.12147	N	-1.39888798881912	0.02649	0.1172741	-1.41730331490068	0.03079	0.1429207	0.029345584438846	0.13881	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	-3.46	0.04465	0.071000	0.14461	-2.371000	0.03838	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.5971:0.1325:0.2704	9.522	0.38305	596	0.68392	.;.	.	.	.	.	rs138353181	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.021739	0.011696	0.000000	0.025862	0.012195	0.022727	0.1053	4785.43	35	chr15	45105795	.	C	T	4785.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.76;DP=903;ExcessHet=0.7564;FS=1.252;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.15;SOR=0.621	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	15	0	4	0
chr15	45106877	45106877	G	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon15:c.C1786T:p.P596S,DUOX2:NM_014080:exon15:c.C1786T:p.P596S	Thyroid dyshormonogenesis 6, Autosomal recessive	1	1508	12	1	0	14	0.00462046	.	.	.	873641	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0002	0.00938498	0.0115	0.0005	0.0027	0	0	0.0001	0.0030	0.0563	0.0053363	825	154602	rs373790251	0.0031	0.0031	0.0016	0.0045	0.0508	0.0030	0.0029	0.0495	0.0490	0.0001	0	0	2.566e-05	0	0.0023	1.636e-05	0.0032	0.0508	0.0016	0.0016	0.0008	0.0024	0.0481	0.0014	0.0014	0.0430	0.0411	0.0002	0	6.533e-05	0	0	0	0	0	0.0009	0.0481	0.428	0.09600	T	0.416	0.14284	T	0.01	0.15535	B	0.017	0.18140	B	0.007831	0.31171	N	0.353495	0.995539	0.23266	N	2.125	0.59049	M	-1.95	0.85003	D	0.92	0.01573	N	0.412	0.45237	-0.9979	0.30507	T	0.114	0.40490	T	9	0.0051925182	0.00113	T	.	.	.	0.079	0.23065	.	.	0.860418312386	0.85907	0.3534901158262429	0.35263	0.103735805567	0.11741	0.270246207714	0.06172	T	0.018832	0.48430	T	-0.388666	0.02744	T	-0.293824	0.45372	T	0.00591628297152194	0.00065	T	0.908909	0.67748	D	0.0370762	0.04685	0.08642148	0.20022	0.04516105	0.07345	0.08642148	0.20021	-5.007	0.36916	T	0.19867786469457788	0.26316	0.093	0.13830	B	.;.	.;.	1.744282	0.22190	15.52	0.74999565230947007	0.10907	0.65193	0.32656	D	AEFDBI	0.248372	0.36879	N	-0.612444355669082	0.18569	0.9651273	-0.568781412310757	0.20309	1.093619	0.061507942830536	0.15233	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.99	0.638	0.16913	1.474000	0.35006	0.653000	0.20435	-0.153000	0.12021	0.812000	0.29879	0.088000	0.22492	0.212000	0.22240	0.0:0.6949:0.2088:0.0963	15.679	0.77111	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	660.33	39	chr15	45106877	.	G	A	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.569;SOR=0.707	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1379	18	0	1	0
chr15	45111566	45111566	C	A	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G533T:p.W178L,DUOX2:NM_014080:exon6:c.G533T:p.W178L	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	340644	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.275683824932	.	0.000199681	0.0007	0	0	0	0	0.0020	0	0	0.0001229	19	154602	rs190660925	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0020	0	0	0.0002	0.0002	0.0004	1.262e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0.0014	0	0	0	0.0003	0	0	0.005	0.63226	D	0.153	0.32144	T	0.933	0.52105	P	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-0.5	0.70480	T	-9.78	0.98656	D	0.752	0.76111	-0.2210	0.77125	T	0.349	0.71359	T	9	0.24246252	0.41443	T	0.275684	0.90046	D	0.541	0.80842	.	.	0.831131423515	0.82952	0.6623747631141079	0.66174	0.725402708642	0.62444	0.747200727463	0.74034	T	0.104033	0.75121	T	0.136286	0.67970	D	0.258313	0.86013	D	0.870914280414581	0.52081	D	0.958204	0.84269	D	0.8439663	0.86893	0.8401107	0.90845	0.8439663	0.86895	0.8401107	0.90846	-10.92	0.79218	D	0.7993362048865944	0.87640	0.793	0.76966	P	.;.	.;.	5.358640	0.89866	31	0.98578781335488219	0.43206	0.99006	0.89858	D	AEFDBHCI	0.912475	0.87316	D	0.760365258602184	0.83578	8.054349	0.737469652162456	0.85217	8.51544	0.999999999999989	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.625000	0.82323	6.774000	0.56567	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.617	0.87971	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001564	0.000000	0.001416	0.000000	0.050000	0.000000	0.003205	0.000000	0.02632	968.33	33	chr15	45111566	.	C	A	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=654;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-0.794;QD=16.41;ReadPosRankSum=1.32;SOR=0.992	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1202	18	0	1	0
chr15	45120748	45120748	C	A	exonic	DUOXA1	.	nonsynonymous SNV	DUOXA1:NM_001276265:exon3:c.G263T:p.R88L,DUOXA1:NM_001276268:exon4:c.G263T:p.R88L,DUOXA1:NM_001384349:exon6:c.G263T:p.R88L,DUOXA1:NM_001276264:exon7:c.G398T:p.R133L,DUOXA1:NM_001276266:exon7:c.G398T:p.R133L,DUOXA1:NM_001276267:exon7:c.G263T:p.R88L,DUOXA1:NM_144565:exon7:c.G398T:p.R133L	.	.	.	.	.	.	.	.	.	.	.	726106	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	.	0.0115815	0.0048	0.0002	0	0.0653	0	0	0.0022	0.0007	0.0043466	672	154602	rs75981505	0.0015	0.0015	0.0015	0.0015	0.0495	0.0014	0.0014	0.0477	0.0470	5.974e-05	6.708e-05	0	0.0495	0	0	9.892e-06	0.0023	0.0004	0.0023	0.0023	0.0020	0.0026	0.0626	0.0021	0.0020	0.0570	0.0548	7.225e-05	0	0.0003	0	0.0626	0	0	2.941e-05	0.0028	0.0015	0.139	0.53900	T	0.048	0.48594	D	0.467	0.36479	P	0.236	0.46509	B	0.096902	0.20053	N	0.576970	0.992723	0.23835	N	2.105	0.58435	M	0.48	0.55945	T	-2.78	0.62747	D	0.435	0.47857	-1.0340	0.19173	T	0.021	0.08917	T	10	0.004121959	0.00081	T	.	.	.	0.102	0.29158	.	.	0.604084794658	0.60091	0.5607529979610881	0.56002	0.408659946516	0.41705	0.222397744656	0.01453	T	0.130857	0.46000	T	-0.475319	0.00788	T	-0.407644	0.32497	T	0.0430974727027359	0.04254	T	0.678632	0.38228	T	0.22087756	0.44652	0.1415934	0.33713	0.22087756	0.44652	0.1415934	0.33712	-4.667	0.33002	T	.	.	0.119	0.33389	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.333809	0.07076	3.646	0.99363150862944472	0.61113	0.14535	0.18454	N	AEFBI	0.345092	0.44036	N	-0.652878982431639	0.17376	0.8936195	-0.693263035833332	0.17129	0.9093903	0.804475261321458	0.24244	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.44	-2.44	0.06126	-0.928000	0.04088	-5.845000	0.01577	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.731000	0.35132	0.0:0.3832:0.1165:0.5003	7.399	0.26127	604	0.67577	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1848.33	34	chr15	45120748	.	C	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=828;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.516;SOR=0.608	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1418	18	0	1	0
chr15	45135290	45135290	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon5:c.C494T:p.P165L,DUOX1:NM_017434:exon6:c.C494T:p.P165L	.	6	1501	13	2	0	17	0.005631	0.0002	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0036	0.0119808	0.0105	0.0151	0.0009	0.0002	0	0.0002	0.0032	0.0545	0.0065394	1011	154602	rs201314048	0.0035	0.0035	0.0021	0.0049	0.0501	0.0034	0.0033	0.0488	0.0483	0.0127	0.0003	0	2.558e-05	0	0.0027	6.945e-05	0.0034	0.0501	0.0047	0.0048	0.0039	0.0056	0.0446	0.0044	0.0043	0.0397	0.0378	0.0116	0	0.0007	0	0	0	0	5.881e-05	0.0038	0.0446	0.304	0.14303	T	0.535	0.09931	T	0.0	0.02946	B	0.001	0.04355	B	0.018262	0.27521	N	0.334485	0.745488	0.29692	N	-1.04	0.01097	N	-0.29	0.67712	T	0.29	0.04161	N	0.29	0.33904	-1.0600	0.11756	T	0.048	0.20672	T	10	0.002321452	0.00034	T	.	.	.	0.081	0.23632	.	.	0.521173705876	0.51762	0.49126523940544053	0.49047	0.306097199594	0.32911	0.403198838234	0.25514	T	0.065711	0.32758	T	-0.559368	0.00256	T	-0.541232	0.18174	T	0.0195847465045476	0.00661	T	0.424758	0.11367	T	0.12910745	0.30164	0.067281365	0.13896	0.12910745	0.30164	0.067281365	0.13896	-2.517	0.05898	T	.	.	0.051	0.00172	B	.;.	.;.	1.336851	0.17426	13.16	0.93366076201998627	0.23108	0.24847	0.22519	N	AEFDBCI	0.104651	0.20933	N	-1.00667812711471	0.08464	0.3969793	-0.846518354240687	0.13371	0.6932852	0.935703769657464	0.27224	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.55	-0.711	0.10664	2.024000	0.40670	0.747000	0.21206	-0.174000	0.10959	1.000000	0.71638	0.999000	0.35428	0.502000	0.29062	0.4733:0.1116:0.0:0.4151	3.530	0.07331	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007576	0.000000	0.004098	0.008772	0.000000	0.000000	0.009202	0.022727	0.02632	1609.33	34	chr15	45135290	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.05;DP=797;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.81;MQRankSum=-6.72;QD=12.48;ReadPosRankSum=-0.586;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr15	45135487	45135487	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon6:c.C509T:p.T170M,DUOX1:NM_017434:exon7:c.C509T:p.T170M	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.908	0.791576934743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.133e-07	9.577e-06	1.409e-06	0	2.769e-05	0	0	.	.	0	0	0	2.769e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.057584	1	0.81001	D	3.92	0.96251	H	-1.58	0.81987	D	-4.81	0.80767	D	0.911	0.91276	0.821	0.94668	D	0.789	0.92850	D	10	0.9844012	0.98633	D	0.791577	0.98364	D	0.908	0.97512	0.863	0.95940	0.965101321531	0.96473	0.8145658875557028	0.81412	1.03631145464	0.75617	0.768104314804	0.77141	T	0.623053	0.88213	D	0.382987	0.88899	D	0.312358	0.88760	D	0.998809099197388	0.95218	D	0.940639	0.77718	D	0.8156278	0.84927	0.7458447	0.84977	0.8156278	0.84928	0.7458447	0.84978	-10.164	0.74887	D	.	.	0.553	0.67819	A	.;.	.;.	5.240826	0.87984	29.4	0.99835059478249699	0.91628	0.94500	0.61366	D	AEFDGBHCI	0.682075	0.64521	D	0.751627589299647	0.83011	7.906654	0.591510506677488	0.74327	6.118628	0.999999999999748	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	5.977000	0.70179	3.983000	0.40922	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	13.538	0.61114	616	0.66398	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	39	chr15	45135487	.	C	T	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.801;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr15	45141021	45141021	G	C	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon13:c.G1516C:p.V506L,DUOX1:NM_017434:exon14:c.G1516C:p.V506L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0155597448779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.902	0.07244	T	0.011	0.15914	B	0.02	0.19048	B	0.000160	0.49130	D	0.176375	0.894655	0.36030	D	0.935	0.23595	L	-0.25	0.67011	T	-0.87	0.23590	N	0.205	0.24634	-0.9690	0.37407	T	0.143	0.46550	T	10	0.29705498	0.47268	T	0.01556	0.36360	T	0.157	0.40909	0.67	0.80803	0.661220806347	0.65838	0.772228604790673	0.77172	0.296445930362	0.32028	0.495096504688	0.38145	T	0.076742	0.35490	T	-0.0546254	0.43742	T	-0.316242	0.42986	T	0.279056638479233	0.24132	T	0.891311	0.62583	D	0.117623225	0.27727	0.061868746	0.12017	0.117623225	0.27727	0.061868746	0.12016	-2.979	0.09956	T	.	.	0.127	0.33039	B	.;.;.	.;.;.	2.338263	0.29965	18.29	0.7415206238932085	0.10589	0.92162	0.55083	D	AEFGBI	0.664082	0.63337	D	-0.516927444218294	0.21532	1.143438	-0.39638368644527	0.25105	1.378635	0.707623617026915	0.22779	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.46	2.58	0.30011	4.555000	0.60477	1.811000	0.28962	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.497000	0.28949	0.2066:0.1928:0.6006:0.0	4.226	0.10036	620	0.66037	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1316.33	33	chr15	45141021	.	G	C	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.496;DP=743;ExcessHet=0;FS=3.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.782;SOR=1.102	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	18	0	1	0
chr15	45148402	45148402	C	T	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon21:c.C2773T:p.R925W,DUOX1:NM_017434:exon22:c.C2773T:p.R925W	.	1	1485	34	2	0	38	0.012633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	.	0.0014	0.00319489	0.0032	0.0003	0.0008	0	0	0.0024	0.0033	0.0129	0.0029301	453	154602	rs145668427	0.0023	0.0023	0.0018	0.0027	0.0138	0.0022	0.0022	0.0131	0.0129	0.0003	0.0011	0.0045	5.038e-05	0.0003	0.0081	0.0016	0.0024	0.0138	0.0019	0.0019	0.0015	0.0022	0.0129	0.0017	0.0016	0.0103	0.0094	0.0005	0	0.0035	0.0032	0	0	0.0136	0.0019	0.0009	0.0129	0.004	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.010022	0.30096	N	0.338534	0.999997	0.58761	D	2.295	0.65404	M	-0.36	0.68754	T	-5.37	0.84882	D	0.681	0.69125	-0.2476	0.76424	T	0.390	0.74438	T	10	0.012992173	0.00277	T	.	.	.	0.436	0.74093	.	.	0.90792233723	0.90700	0.726876429450591	0.72631	0.99589291935	0.74233	0.660695314407	0.61509	T	0.563573	0.85432	D	-0.296382	0.09006	T	-0.187478	0.55827	T	0.043791099414861	0.04383	T	0.988918	0.96255	D	0.3405084	0.56320	0.3176283	0.57737	0.3405084	0.56320	0.3176283	0.57736	-11.24	0.80958	D	.	.	0.179	0.39064	B	.;.;.	.;.;.	4.685011	0.75006	26.3	0.99926499286156212	0.99103	0.85381	0.44508	D	AEFDGBI	0.825499	0.74518	D	0.423167992564593	0.62697	4.490105	0.36829184902414	0.59616	4.14108	0.999999853887748	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.9	2.83	0.32150	1.612000	0.36501	0.448000	0.18493	-0.229000	0.07765	1.000000	0.71638	0.992000	0.31684	0.940000	0.48062	0.3221:0.6779:0.0:0.0	11.691	0.50776	616	0.66398	EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.008152	0.008772	0.050000	0.008621	0.006098	0.015152	0.02632	1890.33	35	chr15	45148402	.	C	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.985;SOR=0.694	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr15	45153994	45153994	G	A	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon27:c.G3568A:p.V1190I,DUOX1:NM_017434:exon28:c.G3568A:p.V1190I	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0425133491227	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs147031273	6.638e-05	6.909e-05	8.036e-05	5.227e-05	0.0002	5.564e-05	5.155e-05	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	1.872e-05	0.0002	6.838e-05	9.939e-05	5.798e-05	7.236e-05	7.223e-05	0.0001	2.692e-05	0.0001	3.976e-05	3.131e-05	5.845e-05	4.241e-05	2.413e-05	0	6.546e-05	0	0	0	0.0034	0.0001	0	0	0.679	0.05899	T	0.832	0.03695	T	0.195	0.29512	B	0.064	0.27215	B	0.000418	0.44736	N	0.192086	0.999995	0.58761	D	0.61	0.15665	N	-2.73	0.90679	D	-0.2	0.10656	N	0.189	0.20660	-0.4851	0.69184	T	0.468	0.79471	T	10	0.1447351	0.27464	T	0.042513	0.60504	D	0.222	0.51872	.	.	0.702979688004	0.70040	0.38552565952720236	0.38467	0.252962964359	0.27862	0.421573221684	0.28053	T	0.122762	0.44667	T	-0.190454	0.22190	T	-0.256304	0.49191	T	0.0163872077269136	0.00406	T	0.849815	0.53996	T	0.18402646	0.39698	0.08494223	0.19577	0.18402646	0.39697	0.08494223	0.19577	-4.637	0.32633	T	.	.	0.079	0.07745	B	.;.;.	.;.;.	2.506338	0.32366	19.02	0.59853370698350383	0.06323	0.89586	0.50145	D	AEFGBI	0.291955	0.40295	N	-0.728650278786387	0.15220	0.765116	-0.67102435016952	0.17687	0.9415728	0.996596427868163	0.34855	0.57788	0.32782	0	0.550933	0.16991	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	2.56	0.29842	2.893000	0.48331	5.971000	0.51999	-0.139000	0.12461	0.999000	0.42656	1.000000	0.68203	0.195000	0.21750	0.1817:0.0:0.8183:0.0	9.24	0.36652	616	0.66398	Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	710.33	38	chr15	45153994	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=0.35;SOR=0.616	GT:AD:DP:GQ:PL	0/1:69,31:100:99:724,0,1609	18	0	1	0
chr15	45263950	45263950	G	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon6:c.G516T:p.E172D	.	413	1089	20	0	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00895856816849	0.0042	0.00199681	0.0030	0.0009	0.0010	0	0.0017	0.0039	0	0.0043	0.0030724	475	154602	rs113624548	0.0037	0.0037	0.0037	0.0037	0.0047	0.0037	0.0036	0.0041	0.0041	0.0008	0.0009	3.827e-05	0	0.0016	0.0047	0.0042	0.0035	0.0041	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0039	0.0038	0.0008	0.0121	0.0009	0	0.0004	0.0012	0	0.0044	0.0024	0.0033	0.096	0.58626	T	0.109	0.57104	T	0.165	0.28508	B	0.115	0.31843	B	0.000025	0.55875	D	0.184484	0.999979	0.53665	D	2.53	0.73802	M	4.66	0.58029	T	-2.12	0.49018	N	0.349	0.39052	-0.8862	0.49257	T	0.006	0.01981	T	10	0.009833723	0.00221	T	0.008959	0.23607	T	0.112	0.31546	0.158	0.06178	0.68937278472	0.68670	0.4067162243965829	0.40587	0.0860025168769	0.09718	0.30266046524	0.10798	T	0.033661	0.23005	T	-0.452273	0.01095	T	-0.421619	0.30890	T	0.0228466091390399	0.01005	T	0.89491	0.63503	D	0.17332315	0.38074	0.15508768	0.36369	0.17332315	0.38074	0.15508768	0.36368	-8.327	0.63277	D	.	.	0.175	0.55631	B	.;.	.;.	2.861872	0.37813	20.6	0.99861045185208053	0.93911	0.90850	0.52379	D	AEFGBI	0.535409	0.55404	D	-0.00782973758745723	0.41500	2.483424	0.110874095308859	0.45104	2.779562	0.999976340995865	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.9	4.04	0.46262	2.857000	0.48048	2.404000	0.32608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2466:0.0:0.7534:0.0	7.920	0.29000	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	912.33	33	chr15	45263950	.	G	T	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=745;ExcessHet=0;FS=1.542;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.35;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr15	45269353	45269353	C	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon14:c.C1384T:p.L462F	.	422	1091	9	0	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0053	0.00219649	0.0050	0.0015	0.0040	0	0.0027	0.0067	0.0022	0.0043	0.0052716	815	154602	rs17222057	0.0077	0.0078	0.0078	0.0077	0.0088	0.0076	0.0076	0.0086	0.0086	0.0011	0.0044	0.0130	0.0001	0.0036	0.0033	0.0088	0.0067	0.0039	0.0051	0.0051	0.0057	0.0044	0.0076	0.0048	0.0047	0.0071	0.0069	0.0015	0	0.0059	0.0141	0	0.0031	0	0.0076	0.0019	0.0031	0.002	0.72154	D	0.005	0.72224	D	0.052	0.22494	B	0.094	0.30180	B	0.010277	0.29994	N	0.405704	0.999998	0.08975	N	1.445	0.36358	L	3.02	0.08986	T	-1.76	0.41618	N	0.255	0.28849	-1.0259	0.21788	T	0.012	0.04510	T	10	0.006441891	0.00146	T	.	.	.	0.064	0.18567	.	.	0.0297737177859	0.01360	0.6686967007603511	0.66807	0.0482070404914	0.05268	0.290889114141	0.09052	T	0.052976	0.29314	T	-0.602462	0.00141	T	-0.628776	0.10508	T	0.0135854117768255	0.00251	T	0.79822	0.44280	T	0.30386022	0.53248	0.19016315	0.42404	0.30386022	0.53248	0.19016315	0.42403	-3.324	0.14048	T	.	.	0.091	0.13315	B	.	.	1.305720	0.17084	12.95	0.97414041760857306	0.33840	0.09035	0.14870	N	AEFDI	0.142566	0.26504	N	-1.29535967406784	0.03731	0.1671785	-1.37230193295767	0.03550	0.1658196	0.835945066895725	0.24779	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.04	-7.62	0.01154	-0.069000	0.11501	-1.087000	0.06371	-1.056000	0.01626	0.001000	0.13787	0.000000	0.08366	0.901000	0.43729	0.4656:0.2783:0.2561:0.0	7.692	0.27741	607	0.67291	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	819.33	67	chr15	45269353	.	C	T	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=702;ExcessHet=0;FS=3.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.807;SOR=1.258	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1406	18	0	1	0
chr15	45369403	45369403	G	A	exonic	GATM	.	nonsynonymous SNV	GATM:NM_001482:exon3:c.C407T:p.T136M,GATM:NM_001321015:exon6:c.C20T:p.T7M	Cerebral creatine deficiency syndrome 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	202858	not_specified|not_provided|Intellectual_disability|Arginine:glycine_amidinotransferase_deficiency|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704|MeSH:D030342,MedGen:C0950123	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.049	0.00268199246871	0.0005	.	0.0003	9.61e-05	0	0.0001	0	0.0006	0	0	0.0004075	63	154602	rs148564534	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	0.0002	2.236e-05	0	5.039e-05	1.872e-05	0	0.0007	0.0005	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0004	0.0006	0.0006	0.0002	0.0274	0.0002	0	0	0	0	0.0008	0	0	0.121	0.27783	T	0.135	0.34596	T	0.0	0.02946	B	0.0	0.01387	B	0.000443	0.44317	N	0.286415	0.999293	0.21398	N	-0.455	0.02793	N	1.13	0.38556	T	0.08	0.89534	N	0.2	0.22098	-1.0564	0.12672	T	0.037	0.16116	T	10	0.0070399344	0.00160	T	0.002682	0.05492	T	0.049	0.13647	.	.	0.15499578495	0.15088	0.4930704292290978	0.49228	0.711518779709	0.61734	0.313004314899	0.12361	T	0.308859	0.75743	T	-0.484753	0.00695	T	-0.509624	0.21354	T	0.0244401842355728	0.01201	T	0.557244	0.19380	T	0.032073442	0.03165	0.032145467	0.01906	0.035945065	0.04328	0.03650652	0.03110	-5.012	0.38398	T	0.07242716389218568	0.02968	0.050	0.01215	B	.;.;.;.;.;.	.;.;.;.;.;.	1.701314	0.21672	15.30	0.86123845340845051	0.16329	0.39018	0.26118	N	AEFDBI	0.232484	0.35555	N	-0.675297125895383	0.16727	0.8547775	-0.456420997897515	0.23366	1.273915	0.994909082613645	0.33856	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.93	2.28	0.27583	0.773000	0.26323	1.931000	0.29771	-0.554000	0.04884	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.5682:0.1514:0.1514:0.129	1.756	0.02803	600	0.68026	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1343.33	34	chr15	45369403	.	G	A	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=746;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.043;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	18	0	1	0
chr15	45421161	45421161	A	G	exonic	SPATA5L1	.	nonsynonymous SNV	SPATA5L1:NM_024063:exon8:c.A2213G:p.Y738C	.	.	.	.	.	.	.	.	.	.	.	2211402	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.206088224809	0.0007	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	6.081e-05	0.0003622	56	154602	rs144102603	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	9.057e-05	4.589e-05	0.0007	0	0	0.0002	0.0006	0.0005	1.175e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	4.809e-05	0	0.0002	0.0012	0	0	0	0.0007	0	0	0.001	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.991	0.79672	D	0.000509	0.43753	D	0.158061	0.872693	0.28180	N	2.82	0.82106	M	-3.69	0.95317	D	-7.54	0.95160	D	0.303	0.34228	0.881	0.95420	D	0.884	0.96155	D	10	0.33710006	0.50838	T	0.206088	0.87020	D	0.750	0.91413	.	.	0.832418233466	0.83082	0.8020061257417183	0.80154	0.226757036249	0.25220	0.396877735853	0.24635	T	0.357424	0.72413	T	-0.0360052	0.46539	T	0.0792543	0.75527	D	0.275392264127731	0.23977	T	0.737326	0.35372	T	0.61193293	0.73332	0.5989767	0.76707	0.61193293	0.73333	0.5989767	0.76708	-10.484	0.76755	D	.	.	0.108	0.20469	B	.	.	4.353516	0.66884	25.0	0.99760466150901528	0.85011	0.85822	0.44999	D	AEBI	0.208565	0.33464	N	0.451366842087496	0.64279	4.679059	0.39506658261784	0.61261	4.323648	0.137881259931324	0.17216	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.46	2.77	0.31614	2.823000	0.47781	4.990000	0.46521	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8317:0.0:0.1683:0.0	9.885	0.40422	559	0.71409	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	778.33	34	chr15	45421161	.	A	G	778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=690;ExcessHet=0;FS=5.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.941;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	18	0	1	0
chr15	45486716	45486716	T	C	exonic	SLC30A4	.	nonsynonymous SNV	SLC30A4:NM_013309:exon7:c.A1030G:p.I344V	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.00479233	0.0018	0	8.649e-05	0.0001	0	1.502e-05	0.0011	0.0129	0.0016171	250	154602	rs201823030	0.0008	0.0008	0.0004	0.0011	0.0127	0.0007	0.0007	0.0120	0.0118	3.108e-05	0	0	0	0	0.0002	5.486e-06	0.0007	0.0127	0.0004	0.0004	0.0002	0.0006	0.0130	0.0003	0.0003	0.0105	0.0095	0	0	0	0	0	0	0	0	0.0005	0.0130	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.007	0.12992	B	0.000190	0.48115	N	0.221603	0.512268	0.31637	N	0.955	0.23872	L	0.18	0.60361	T	0.35	0.03761	N	0.233	0.26233	-0.9781	0.35435	T	0.087	0.33662	T	10	0.0052719116	0.00115	T	.	.	.	0.100	0.28662	0.619	0.75347	0.043077524339	0.03247	0.5312951440330397	0.53053	0.28057246335	0.30537	0.347290456295	0.17522	T	0.112015	0.42795	T	-0.471404	0.00833	T	-0.438884	0.28934	T	0.0181120226350876	0.00533	T	0.675632	0.28413	T	0.04662768	0.07837	0.0497522	0.07667	0.04662768	0.07837	0.0497522	0.07667	-2.711	0.07396	T	.	.	0.085	0.10111	B	.	.	1.765280	0.22449	15.63	0.81945232651488065	0.13940	0.95003	0.63085	D	AEFI	0.557317	0.56700	D	-0.847756734321624	0.12105	0.5880515	-0.585124041548069	0.19880	1.068641	0.850176589759227	0.25029	0.615465	0.37627	0	0.588015	0.36545	0	0.59043	0.30614	0	0.655142	0.61905	0	.	.	5.57	4.44	0.53164	5.261000	0.65314	4.236000	0.42680	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0716:0.0:0.9284	12.799	0.56954	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	759.33	35	chr15	45486716	.	T	C	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=722;ExcessHet=0;FS=2.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.173;SOR=0.401	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	18	0	1	0
chr15	47765934	47765934	C	T	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon14:c.C1493T:p.A498V,SEMA6D:NM_001358352:exon14:c.C1493T:p.A498V,SEMA6D:NM_020858:exon14:c.C1493T:p.A498V,SEMA6D:NM_153616:exon14:c.C1493T:p.A498V,SEMA6D:NM_153617:exon14:c.C1493T:p.A498V,SEMA6D:NM_153618:exon14:c.C1493T:p.A498V,SEMA6D:NM_153619:exon14:c.C1493T:p.A498V,SEMA6D:NM_001198999:exon17:c.C1493T:p.A498V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0134984214484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.038	0.52727	D	0.907	0.50062	P	0.767	0.56720	P	0.000096	0.51296	N	0.201794	0.999326	0.47795	D	1.69	0.43327	L	1.99	0.21666	T	-2.65	0.57275	D	0.334	0.37509	-1.0867	0.06102	T	0.093	0.35255	T	10	0.25697744	0.43108	T	0.013498	0.32951	T	0.068	0.19811	0.419	0.46036	0.043077524339	0.03247	0.4742032582102288	0.47339	0.0773626685617	0.08700	0.301886856556	0.10682	T	0.333408	0.70326	T	-0.157166	0.27196	T	-0.463534	0.26216	T	0.949325680732727	0.63089	D	0.89931	0.64723	D	0.18057315	0.39185	0.17059931	0.39180	0.18057315	0.39185	0.17059931	0.39180	-9.83	0.73576	D	.	.	0.131	0.28778	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.725450	0.35659	19.96	0.99788615274999259	0.87484	0.92733	0.56413	D	AEFGBI	0.531966	0.55202	D	0.13009091673262	0.47870	3.006805	0.128850659411191	0.46030	2.855893	0.999999326366536	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.77	0.60425	3.407000	0.52394	4.044000	0.41450	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.969000	0.54022	0.0:0.9293:0.0:0.0707	14.381	0.66476	755	0.51144	.;Sema domain;.;.;Sema domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2742.83	34	chr15	47765934	.	C	T	2742.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.704;DP=884;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.22;SOR=0.693	GT:AD:DP:GQ:PL	0/1:45,62:107:99:1662,0,1264	17	0	2	0
chr15	47767082	47767082	G	A	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon17:c.G1754A:p.G585D,SEMA6D:NM_001358352:exon17:c.G1793A:p.G598D,SEMA6D:NM_153617:exon17:c.G1754A:p.G585D,SEMA6D:NM_153618:exon17:c.G1754A:p.G585D	.	502	1019	1	0	0	1	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.00346120353822	.	.	0.0001	0	8.715e-05	0	0	1.516e-05	0	0.0007	9.06e-05	14	154602	rs777380933	5.44e-05	7.525e-05	3.231e-05	7.677e-05	0.0008	4.418e-05	4.082e-05	0.0006	0.0006	0	7.546e-05	3.983e-05	0	0	0.0007	2.759e-06	5.142e-05	0.0008	0.0001	0.0001	3.86e-05	0.0002	0.0010	9.165e-05	7.718e-05	0.0007	0.0005	0	0	0.0010	0	0	0	0	0	0	0.0010	0.266	0.16251	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.04355	B	0.184281	0.17019	N	0.592735	0.899924	0.81001	D	-0.205	0.04094	N	2.37	0.42502	T	-0.19	0.09965	N	0.197	0.30461	-1.0749	0.08369	T	0.046	0.19559	T	10	0.03706819	0.02040	T	0.003461	0.07817	T	0.272	0.58758	0.342	0.33464	0.123314135267	0.11883	0.47947376360416394	0.47867	0.100991544238	0.11413	0.667215228081	0.62441	T	0.030621	0.21663	T	-0.396207	0.02452	T	-0.421162	0.30942	T	0.0209993691984978	0.00801	T	0.751925	0.37414	T	0.043273788	0.06715	0.06494585	0.13092	0.043273788	0.06715	0.06494585	0.13091	-3.381	0.14802	T	.	.	0.075	0.09239	B	.;.;.	.;.;.	2.148681	0.27367	17.44	0.67612487860482251	0.08407	0.81579	0.40954	D	AEFBI	0.492132	0.52890	N	-0.422424939199841	0.24685	1.334635	-0.176642071228261	0.32398	1.842781	0.999696348168143	0.41870	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.36	4.46	0.53567	5.672000	0.67774	8.707000	0.78125	-0.688000	0.04154	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2974:0.0:0.7026:0.0	6.170	0.19625	752	0.51611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	724.33	36	chr15	47767082	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=691;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.058;SOR=1.214	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1002	18	0	1	0
chr15	48141130	48141130	C	A	exonic	SLC24A5	.	nonsynonymous SNV	SLC24A5:NM_205850:exon8:c.C1096A:p.P366T	Albinism, oculocutaneous, type VI, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	1892307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.566	0.0639862753667	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0002329	36	154602	rs147788058	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	0	2.237e-05	0	0	0	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	8.998e-05	0.0002	0.0015	0.0001	9.239e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.05	0.63403	T	-7.82	0.95977	D	0.928	0.94904	0.199	0.85898	D	0.560	0.83994	D	10	0.62241805	0.68053	D	0.063986	0.69136	D	0.566	0.82289	.	.	0.914126891962	0.91326	0.9182716371250894	0.91803	0.42405282143	0.42844	0.631505846977	0.57359	T	0.765378	0.93678	D	0.0761733	0.61590	D	0.296108	0.88019	D	0.712616562843323	0.41329	D	0.843016	0.51993	T	0.86288536	0.88305	0.8965776	0.94733	0.86288536	0.88307	0.8965776	0.94734	-10.015	0.75969	D	0.5500690276727405	0.61877	0.433	0.63085	A	.;.	.;.	5.059321	0.84316	28.3	0.99689782885345124	0.79842	0.99670	0.98521	D	AEFI	0.932224	0.92226	D	0.998093092822973	0.95685	13.86129	0.946399583785166	0.97295	15.89282	0.999999999649299	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	7.415000	0.79344	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.367	0.98884	837	0.37933	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	954.83	35	chr15	48141130	.	C	A	954.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.646;DP=709;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=1.87;SOR=0.756	GT:AD:DP:GQ:PL	0/1:43,25:68:99:495,0,1082	17	0	2	0
chr15	48267616	48267616	C	T	exonic	SLC12A1	.	nonsynonymous SNV	SLC12A1:NM_000338:exon18:c.C2210T:p.A737V,SLC12A1:NM_001184832:exon18:c.C2210T:p.A737V,SLC12A1:NM_001384136:exon18:c.C2210T:p.A737V	Bartter syndrome, type 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	332203	not_provided|Bartter_disease_type_1	MedGen:C3661900|MONDO:MONDO:0100344,MedGen:C1866495,OMIM:601678,Orphanet:112,Orphanet:620217	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.329	.	.	0.0125799	0.0033	0	0.0002	0.0451	0	0	0.0022	0.0002	0.0031436	486	154602	rs78648980	0.0014	0.0014	0.0015	0.0014	0.0481	0.0014	0.0013	0.0463	0.0456	2.989e-05	6.711e-05	0	0.0481	0	0.0002	8.996e-06	0.0021	0.0001	0.0017	0.0017	0.0016	0.0018	0.0473	0.0015	0.0015	0.0425	0.0406	0	0	0.0005	0	0.0473	0	0	2.942e-05	0.0014	0.0004	0.199	0.27194	T	0.29	0.21011	T	0.066	0.23586	B	0.041	0.23986	B	0.019316	0.27286	N	0.435879	0.954063	0.37860	D	1.465	0.36909	L	-3.3	0.93787	D	-0.82	0.23156	N	0.422	0.46649	-0.4601	0.70064	T	0.119	0.41713	T	10	0.010328889	0.00230	T	.	.	.	0.329	0.65126	.	.	0.86695827829	0.86566	0.3586311046410507	0.35777	0.158820216048	0.17923	0.47324937582	0.35128	T	0.300227	0.67272	T	-0.27215	0.11518	T	-0.13012	0.60961	T	0.0212881446915657	0.00831	T	0.39666	0.13215	T	0.05135409	0.09417	0.09125734	0.21444	0.05489742	0.10595	0.10407057	0.24985	-6.5	0.50286	T	0.16401774671806782	0.20244	0.114	0.22500	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.167870	0.27620	17.53	0.99553109214625657	0.71273	0.81329	0.40755	D	AEFBI	0.275339	0.39032	N	-0.29027718414703	0.29523	1.637944	-0.124656365644731	0.34398	1.978255	0.980456274859522	0.30138	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	6.02	4.11	0.47350	2.058000	0.41001	1.767000	0.28601	-1.838000	0.00583	1.000000	0.71638	0.963000	0.29397	0.773000	0.36634	0.252:0.748:0.0:0.0	15.557	0.75943	671	0.60868	.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1061.33	35	chr15	48267616	.	C	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=709;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.048;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	18	0	1	0
chr15	48441811	48441811	C	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon50:c.G6073T:p.A2025S	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	44761	not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome|FBN1-related_disorder	MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.400	0.0466743135552	0.0016	0.00199681	0.0005	0.0054	0	0	0	0	0	0	0.0004269	66	154602	rs113577372	9.307e-05	9.303e-05	0.0001	8.528e-05	0.0037	8.028e-05	7.521e-05	0.0032	0.0030	0.0037	4.476e-05	0	0	0	0	0	0.0001	0	0.0010	0.0010	0.0010	0.0011	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	6.543e-05	0	0	0	0	0	0.0005	0	0.67	0.04561	T	0.758	0.04669	T	.	.	.	.	.	.	0.000001	0.62929	D	0.098253	0.999526	0.47407	D	.	.	.	-2.95	0.91903	D	-0.68	0.19509	N	0.184	0.19995	-0.2843	0.75423	T	0.415	0.76191	T	10	0.0098210275	0.00220	T	0.046674	0.62568	D	0.400	0.71401	.	.	0.579960410888	0.57666	.	.	0.482670863814	0.47229	0.497079014778	0.38421	T	.	.	.	-0.3023	0.08444	T	-0.206056	0.54072	T	0.0211887542494066	0.00821	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18539	B	.	.	3.188787	0.43316	21.7	0.96531282759664305	0.30151	0.91187	0.53031	D	AEFBI	0.653777	0.62669	D	-0.204163074482429	0.32962	1.864813	0.0651955737949117	0.42812	2.59617	0.999999999874471	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	1.522000	0.35527	4.097000	0.41842	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.945	0.97180	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1039.33	33	chr15	48441811	.	C	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-2.243;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr15	48744241	48744241	T	A	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_014985:exon23:c.A3666T:p.K1222N,CEP152:NM_001194998:exon24:c.A3834T:p.K1278N	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	2	1506	14	0	0	14	0.00462657	0.1028	0.46	.	513632	Microcephaly_9,_primary,_autosomal_recessive	MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0874096307611	.	.	1.693e-05	0	0	0	0	3.066e-05	0	0	1.94e-05	3	154602	rs760130069	4.105e-06	4.104e-06	5.446e-06	2.75e-06	2.698e-06	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	5.617e-05	0	2.698e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.429e-05	0	0	0	0	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.065758	0.996839	0.43448	D	2.69	0.78713	M	-0.09	0.64818	T	-2.8	0.59226	D	0.652	0.66272	-0.5040	0.68505	T	0.342	0.70778	T	10	0.6741574	0.70890	D	0.08741	0.74930	D	0.249	0.55752	.	.	0.761427779387	0.75925	0.17887472085080316	0.17806	0.420452948576	0.42575	0.677323102951	0.63884	T	0.149146	0.48802	T	-0.121951	0.32804	T	-0.397464	0.33678	T	0.926797986030579	0.58927	D	0.890911	0.62511	D	0.8065632	0.84328	0.41853675	0.65874	0.7263775	0.79521	0.5156838	0.72017	-11.648	0.87857	D	0.543519342706839	0.61290	0.981	0.91344	P	.;.;.	.;.;.	2.639011	0.34336	19.60	0.99679487656406052	0.79174	0.74754	0.36577	D	AEFBI	0.199743	0.32652	N	-0.0463841587803126	0.39764	2.350259	-0.170912098425895	0.32612	1.857142	0.0386212332055092	0.14356	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.09	0.362	0.15348	0.233000	0.17689	-0.551000	0.08528	-0.356000	0.05535	0.985000	0.35982	0.019000	0.20708	0.598000	0.31338	0.0:0.5371:0.0:0.4629	8.440	0.31971	258	0.89879	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	890.33	78	chr15	48744241	.	T	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.193;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.02;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr15	48788836	48788836	T	C	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon9:c.A1138G:p.N380D,CEP152:NM_014985:exon9:c.A1138G:p.N380D	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3703946	Seckel_syndrome_5|Microcephaly_9,_primary,_autosomal_recessive	MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808|MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.043183842184	.	0.000199681	9.936e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs549725302	4.583e-05	4.583e-05	1.906e-05	7.288e-05	0.0008	3.661e-05	3.347e-05	0.0006	0.0006	0	0	0	0	0	0	0	1.656e-05	0.0008	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.028	0.46910	D	0.062	0.45318	T	0.634	0.41275	P	0.234	0.40966	B	0.003473	0.34901	N	0.328571	0.894687	0.27817	N	1.995	0.54099	M	-1.15	0.77964	T	-1.11	0.33401	N	0.236	0.30347	-0.4532	0.70294	T	0.324	0.69289	T	10	0.056404263	0.06318	T	0.043184	0.60853	D	0.300	0.62068	0.151	0.05441	0.902745592643	0.90177	0.10994143922678616	0.10923	0.200154023951	0.22416	0.345521271229	0.17260	T	0.011598	0.10324	T	-0.382909	0.02987	T	-0.411954	0.32001	T	0.184765090599775	0.19530	T	0.834817	0.50404	T	0.2032494	0.42396	0.1390889	0.33198	0.2032494	0.42396	0.1390889	0.33197	-3.656	0.23278	T	0.5833956168193198	0.65021	0.150	0.33063	B	.;.;.	.;.;.	3.089784	0.41597	21.4	0.99683105853296183	0.79373	0.92710	0.56357	D	AEFBI	0.368446	0.45554	N	0.212738779810959	0.51816	3.360015	0.298023006453394	0.55424	3.705437	0.999972829636061	0.50053	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.58	4.46	0.53567	3.988000	0.56662	2.362000	0.32378	0.665000	0.62972	1.000000	0.71638	0.516000	0.25283	0.992000	0.67800	0.0:0.0728:0.0:0.9272	10.929	0.46419	251	0.90153	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2803.33	40	chr15	48788836	.	T	C	2803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=855;ExcessHet=0;FS=6.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.525;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	18	0	1	0
chr15	48878546	48878546	G	A	exonic	EID1	.	nonsynonymous SNV	EID1:NM_014335:exon1:c.G370A:p.V124I	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00897090598002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.91255	D	0.0	0.92824	D	0.884	0.48618	P	0.455	0.46267	P	.	.	.	.	1	0.81001	D	0.695	0.17993	N	1.12	0.38718	T	0.11	0.05706	N	0.142	0.32591	-1.0985	0.04277	T	0.078	0.31072	T	9	0.17441481	0.32320	T	0.008971	0.23631	T	0.076	0.22200	0.48	0.55983	0.24933006939	0.24537	0.015574805870415723	0.01513	0.251418646502	0.27727	0.563897252083	0.47817	T	0.023136	0.17715	T	-0.111675	0.34494	T	-0.39819	0.33596	T	0.658277630805969	0.38820	D	0.570643	0.20320	T	0.1007473	0.23791	0.21594647	0.46203	0.1007473	0.23791	0.21594647	0.46202	-3.663	0.18773	T	.	.	0.180	0.40650	B	.;.	.;.	2.744024	0.35953	20.1	0.99563819460568315	0.71953	0.51808	0.28982	D	ALL	0.677488	0.64218	D	-0.018864200547115	0.41001	2.444823	-0.00802333195592966	0.39350	2.331867	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.19	4.19	0.48645	2.504000	0.45076	10.653000	0.83529	0.676000	0.76740	0.611000	0.27839	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	12.339	0.54411	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	35	chr15	48878546	.	G	A	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.648;DP=778;ExcessHet=0;FS=6.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.441;SOR=0.333	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr15	49328671	49328671	G	C	exonic	FAM227B;GALK2	.	nonsynonymous SNV	GALK2:NM_001352047:exon12:c.G967C:p.E323Q,GALK2:NM_001352048:exon12:c.G967C:p.E323Q,FAM227B:NM_152647:exon16:c.C1424G:p.S475C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0067	0.00559105	0.0035	0.0263	0.0015	0	0	7.593e-05	0.0032	0	0.0012936	200	154602	rs150753064	0.0005	0.0005	0.0006	0.0005	0.0205	0.0005	0.0005	0.0192	0.0187	0.0205	0.0006	0	0	0	0	1.203e-05	0.0011	2.496e-05	0.0052	0.0052	0.0053	0.0050	0.0180	0.0049	0.0047	0.0170	0.0165	0.0180	0	0.0016	0	0	0	0	2.941e-05	0.0038	0.0002	0.157	0.23997	T	0.179	0.29540	T	0.006	0.13644	B	0.006	0.12133	B	0.001196	0.00751	N	2.834750	1	0.08975	N	0.55	0.14455	N	.	.	.	-1.35	0.33598	N	0.108	0.09349	-1.0771	0.07922	T	0.034	0.14596	T	9	0.002750367	0.00043	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.07869044513023583	0.07804	0.0392305835521	0.04181	0.313409507275	0.12422	T	0.049886	0.28437	T	-0.582886	0.00185	T	-0.592466	0.13454	T	0.0149959483170009	0.00322	T	0.442056	0.12263	T	0.053002387	0.09966	0.03928853	0.03988	0.053002387	0.09965	0.03928853	0.03987	-4.976	0.36579	T	.	.	0.075	0.05447	B	.	.	-0.565759	0.01668	0.119	0.90381796100186984	0.19644	0.01688	0.05383	N	AEFBI	0.065292	0.12728	N	-1.48449935070191	0.01959	0.08601867	-1.62855327905476	0.01491	0.06747296	0.999999979073522	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.78367	0.99111	0	0.528226	0.09195	0	.	.	5.35	-9.82	0.00403	-1.903000	0.01686	-1.620000	0.05046	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5246:0.0956:0.113:0.2668	3.026	0.05721	424	0.81215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1799.33	33	chr15	49328671	.	G	C	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=749;ExcessHet=0;FS=3.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.81;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.050505	0.020380	0.040936	0.000000	0.000000	0.006098	0.007576	0.02632	986.33	39	chr15	49897369	.	A	G	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.899;DP=710;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.47;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	18	0	1	0
chr15	50309761	50309761	G	A	exonic	GABPB1	.	nonsynonymous SNV	GABPB1:NM_002041:exon2:c.C38T:p.A13V,GABPB1:NM_005254:exon2:c.C38T:p.A13V,GABPB1:NM_016654:exon2:c.C38T:p.A13V,GABPB1:NM_016655:exon2:c.C38T:p.A13V,GABPB1:NM_001320910:exon3:c.C38T:p.A13V,GABPB1:NM_001320915:exon3:c.C38T:p.A13V,GABPB1:NM_181427:exon3:c.C38T:p.A13V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.0681979536837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	6.841e-06	4.087e-06	6.88e-06	2.522e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.522e-05	0	0	6.299e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.978	0.86255	D	0.000002	0.62929	D	0.057767	1	0.81001	D	2.255	0.64187	M	-0.43	0.69657	T	-3.22	0.69477	D	0.853	0.92784	0.048	0.83205	D	0.508	0.81469	D	10	0.85302496	0.84488	D	0.068198	0.70384	D	0.673	0.87917	0.738	0.87063	0.881034579085	0.87986	0.9769245798725921	0.97682	2.76338610155	0.98759	0.876190602779	0.93441	D	0.344898	0.71335	T	0.321449	0.84575	D	0.223963	0.84373	D	0.990268588066101	0.80481	D	0.985201	0.98122	D	0.59701926	0.72530	0.6149629	0.77589	0.59701926	0.72531	0.6149629	0.77590	-11.025	0.79796	D	.	.	0.963	0.90395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.737854	0.93314	33	0.99915257984697181	0.98379	0.99185	0.92484	D	AEFBI	0.877449	0.80209	D	0.879396899318992	0.90715	10.53125	0.864028821638829	0.93809	12.295	0.999999999873933	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.48	5.48	0.80675	10.003000	0.99689	11.743000	0.95236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.354	0.94396	716	0.55970	.;Ankyrin repeat-containing domain;.;.;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	34	chr15	50309761	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.777;DP=848;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.697;SOR=0.507	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr15	50722170	50722170	A	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon13:c.T1281A:p.D427E	.	439	1074	8	1	0	10	0.00463392	.	.	.	1145292	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.030855879821	0.0016	0.00179712	0.0024	0.0007	0.0020	0	0.0003	0.0035	0.0045	0.0012	0.0024256	375	154602	rs116939379	0.0027	0.0027	0.0026	0.0027	0.0141	0.0026	0.0026	0.0117	0.0107	0.0010	0.0034	0.0081	2.525e-05	0.0001	0.0141	0.0028	0.0039	0.0011	0.0029	0.0029	0.0029	0.0030	0.0080	0.0027	0.0026	0.0069	0.0065	0.0008	0.0175	0.0080	0.0043	0	0	0.0170	0.0035	0.0047	0.0010	0.021	0.49117	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.991046	0.41295	D	3.115	0.87836	M	1.53	0.30401	T	-3.8	0.71762	D	0.962	0.97207	-0.8633	0.51025	T	0.126	0.43153	T	10	0.04637426	0.03821	T	0.030856	0.53076	D	0.538	0.80664	0.913	0.98308	0.446410834509	0.44261	0.8622458910193934	0.86188	0.575806221933	0.53563	0.533789992332	0.43569	T	0.199681	0.55703	T	-0.0765264	0.40277	T	0.118252	0.78120	D	0.0817517520920772	0.10211	T	0.956054	0.83312	D	0.40948978	0.61384	0.40751737	0.65095	0.40948978	0.61384	0.40751737	0.65095	-10.758	0.78314	D	.	.	0.963	0.88388	P	.	.	4.099088	0.61106	24.3	0.9962983951662201	0.75959	0.98843	0.87588	D	AEFGBI	0.587256	0.58498	D	0.713243098623663	0.80500	7.308039	0.703294386876114	0.82628	7.814542	0.781394137222398	0.23849	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	5.354000	0.65806	2.669000	0.33934	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9303:0.0:0.0697:0.0	11.913	0.52033	346	0.85643	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.004076	0.017544	0.000000	0.000000	0.000000	0.003788	0.02632	977.33	33	chr15	50722170	.	A	T	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=712;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.826;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1328	18	0	1	0
chr15	50930925	50930925	A	G	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon7:c.A598G:p.I200V,AP4E1:NM_007347:exon7:c.A823G:p.I275V	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.013640635612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.183	0.29153	T	0.815	0.45525	P	0.657	0.52725	P	0.000010	0.62929	D	0.146783	1	0.81001	D	1.75	0.45442	L	1.92	0.23082	T	-0.64	0.18670	N	0.559	0.58373	-1.1026	0.03790	T	0.084	0.32929	T	10	0.33982503	0.51062	T	0.013641	0.33196	T	0.161	0.41658	0.542	0.65446	0.221890330934	0.21812	0.36194397485981983	0.36108	0.400234520814	0.41026	0.765641868114	0.76771	T	0.091746	0.38860	T	-0.0500578	0.44439	T	-0.309681	0.43693	T	0.879716217517853	0.52969	D	0.90321	0.66782	D	0.15987073	0.35889	0.14776932	0.34956	0.15987073	0.35889	0.14776932	0.34955	-3.645	0.18510	T	.	.	0.154	0.40197	B	.;.	.;.	3.136006	0.42394	21.5	0.99704122038422016	0.80867	0.98900	0.88361	D	AEFDBI	0.874844	0.79793	D	0.344803596554355	0.58466	4.018969	0.476665296359337	0.66445	4.953237	0.999999999563252	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.02	6.02	0.97559	8.947000	0.92735	9.395000	0.80605	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.726	0.77519	232	0.90957	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2565.33	250	chr15	50930925	.	A	G	2565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=891;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.927;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr15	50958794	50958794	-	GTAA	exonic	AP4E1	.	frameshift insertion	AP4E1:NM_001252127:exon14:c.1626_1627insGTAA:p.D544Sfs*14,AP4E1:NM_007347:exon14:c.1851_1852insGTAA:p.D619Sfs*14	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	3	1514	5	0	0	5	0.00164853	.	.	.	797164	Spastic_paraplegia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	4.51e-05	0	0.0006	8.41e-05	13	154602	rs778162120	6.978e-05	6.977e-05	4.22e-05	9.764e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	3.827e-05	0	0	0.0005	2.698e-05	0.0001	0.0007	5.91e-05	5.906e-05	6.426e-05	5.372e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.35e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	990.29	35	chr15	50958794	.	G	GGTAA	990.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.921;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-2.209;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:88,58:154:99:284,0,1715	3	0	13	3
chr15	51480993	51480993	A	G	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.T4094C:p.I1365T,DMXL2:NM_001174117:exon22:c.T4205C:p.I1402T,DMXL2:NM_001378464:exon23:c.T5873C:p.I1958T,DMXL2:NM_001174116:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378457:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378458:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378459:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378461:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378462:exon24:c.T6113C:p.I2038T,DMXL2:NM_001378463:exon24:c.T6113C:p.I2038T,DMXL2:NM_015263:exon24:c.T6113C:p.I2038T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.152953154901	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs750465445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.005	0.72224	D	0.994	0.66517	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.07	0.76948	T	-3.27	0.65512	D	0.958	0.96758	0.405	0.89164	D	0.640	0.87411	D	10	0.85341114	0.84528	D	0.152953	0.83429	D	0.859	0.95691	0.622	0.75690	0.738862854502	0.73652	0.6173043293681109	0.61662	0.890232222495	0.70197	0.796208500862	0.81386	T	0.315819	0.68740	T	0.393881	0.89558	D	0.328006	0.89427	D	0.981635570526123	0.74024	D	0.953005	0.82069	D	0.5350409	0.69117	0.5474158	0.73836	0.5350409	0.69118	0.5474158	0.73837	-8.133	0.62627	D	.	.	0.961	0.88221	P	.;.;.	.;.;.	4.260281	0.64735	24.7	0.99867487468582006	0.94547	0.98496	0.83394	D	AEFBI	0.738536	0.68338	D	0.790440142831218	0.85501	8.595611	0.767701467913114	0.87473	9.234201	0.999998154380072	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	7.147000	0.76970	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.870	0.78889	508	0.75398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	108.33	40	chr15	51480993	.	A	G	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.275;DP=1059;ExcessHet=0;FS=123.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.82;SOR=7.053	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr15	51495053	51495053	G	A	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001174117:exon17:c.C2846T:p.P949L,DMXL2:NM_001378464:exon18:c.C4514T:p.P1505L,DMXL2:NM_001174116:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378457:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378458:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378459:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378461:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378462:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378463:exon19:c.C4754T:p.P1585L,DMXL2:NM_015263:exon19:c.C4754T:p.P1585L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.0177646185802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.679	0.06128	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.555	0.39373	L	2.05	0.23082	T	-2.27	0.50666	N	0.634	0.69825	-1.1002	0.04067	T	0.120	0.41865	T	10	0.693118	0.71977	D	0.017765	0.39598	T	0.344	0.66582	0.694	0.83126	0.420780279148	0.41693	0.5267988048835283	0.52603	0.796178614948	0.66048	0.815879106522	0.84395	D	0.05579	0.30106	T	0.0790574	0.61929	D	-0.124216	0.61455	T	0.989907145500183	0.80122	D	0.962404	0.85901	D	0.24296603	0.47229	0.30609906	0.56636	0.24296603	0.47229	0.30609906	0.56635	-9.999	0.73972	D	.	.	0.410	0.63181	A	.;.;.	.;.;.	4.265717	0.64858	24.8	0.99022150680650622	0.50613	0.87248	0.46730	D	AEFDBHCIJ	0.919311	0.88965	D	0.665133069164271	0.77350	6.658174	0.699783348314829	0.82363	7.748255	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.548927	0.17530	0	.	.	5.75	5.75	0.90390	9.568000	0.97316	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.538	0.95253	523	0.74147	RAVE complex protein Rav1 C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	34	chr15	51495053	.	G	A	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=702;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.421;SOR=0.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1217	18	0	1	0
chr15	51724938	51724938	C	T	exonic	LYSMD2	.	nonsynonymous SNV	LYSMD2:NM_001143917:exon2:c.G184A:p.G62R,LYSMD2:NM_001363969:exon2:c.G184A:p.G62R,LYSMD2:NM_153374:exon2:c.G457A:p.G153R	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00524064398447	0.0073	0.00339457	0.0055	0.0014	0.0029	0.0003	0.0008	0.0086	0.0011	0.0021	0.0057179	884	154602	rs138439412	0.0080	0.0080	0.0080	0.0079	0.0090	0.0079	0.0078	0.0088	0.0088	0.0010	0.0038	0.0258	0.0001	0.0013	0.0026	0.0090	0.0084	0.0025	0.0056	0.0056	0.0062	0.0049	0.0081	0.0052	0.0051	0.0075	0.0073	0.0017	0.0055	0.0062	0.0236	0.0002	0.0013	0	0.0081	0.0066	0.0025	0.423	0.22573	T	0.525	0.16865	T	0.018	0.17786	B	0.004	0.10090	B	0.243666	0.03600	N	1.443250	1	0.08975	N	1.155	0.29575	L	1.4	0.42122	T	-1.62	0.58085	N	0.082	0.07949	-1.0465	0.15389	T	0.056	0.23677	T	10	0.0031895638	0.00054	T	0.005241	0.13371	T	0.042	0.11227	0.305	0.27485	0.362758974969	0.35886	0.17948963885269326	0.17867	0.146231735787	0.16512	0.200983867049	0.00486	T	6.59E-4	0.00285	T	-0.64404	0.00079	T	-0.691073	0.06327	T	0.00286071943286836	0.00030	T	0.641836	0.29365	T	0.041086152	0.05984	0.056221467	0.10006	0.041086152	0.05984	0.056221467	0.10006	-3.339	0.17467	T	.	.	0.072	0.14933	B	.;.;.;.	.;.;.;.	1.234578	0.16299	12.45	0.61355466062863984	0.06688	0.51693	0.28955	D	AEFDBHI	0.182783	0.31011	N	-0.788265873553229	0.13615	0.6720113	-0.741257619712859	0.15938	0.840687	0.999977409856512	0.50053	0.645754	0.44609	0	0.696144	0.67643	0	0.608524	0.38960	0	0.704051	0.69138	0	.	.	4.91	1.72	0.23498	1.274000	0.32736	0.230000	0.16179	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.876000	0.41813	0.0:0.4926:0.3234:0.184	6.984	0.23899	283	0.88803	.;.;.;.	.	.	.	.	rs138439412	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	989.33	34	chr15	51724938	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=707;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.816;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1054	18	0	1	0
chr15	52275719	52275719	C	A	splicing	MYO5C	NM_018728:exon5:c.450-1G>T	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286553	0.81869	D	0.173837	0.81635	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.123572	0.96169	35	0.99065102541183203	0.51574	0.99274	0.93794	D	AEFBI	.	.	.	0.982984878000611	0.95197	13.39649	0.780205789063309	0.88385	9.562244	0.999999999995827	0.74766	0.106106	0.02776	0	0.084543	0.02171	0	0.137589	0.03823	0	0.109871	0.03346	0	0.975639	0.78622	5.47	5.47	0.80345	7.905000	0.86479	7.574000	0.60786	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	19.316	0.94203	376	0.83959	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1638.33	203	chr15	52275719	.	C	A	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=837;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.25;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	18	0	1	0
chr15	52330476	52330476	G	A	exonic	MYO5A	.	nonsynonymous SNV	MYO5A:NM_001142495:exon33:c.C4276T:p.P1426S,MYO5A:NM_000259:exon34:c.C4357T:p.P1453S,MYO5A:NM_001382347:exon35:c.C4432T:p.P1478S,MYO5A:NM_001382349:exon35:c.C4429T:p.P1477S,MYO5A:NM_001382348:exon36:c.C4504T:p.P1502S	Griscelli syndrome, type 1, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	739687	Inborn_genetic_diseases|Intellectual_disability|MYO5A-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0148828240929	0.0008	0.000199681	0.0007	0.0001	0.0004	0	0	0.0011	0	0.0001	0.0006015	93	154602	rs147898420	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0004	0.0003	0.0003	2.988e-05	0.0004	0.0103	0	0	0.0009	0.0003	0.0010	5.797e-05	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	7.227e-05	0	0.0004	0.0107	0	0	0	0.0006	0	0	0.355	0.26192	T	0.304	0.20228	T	0.004	0.40146	B	0.004	0.32300	B	0.000000	0.84330	D	0.054574	1	0.81001	D	1.525	0.38595	L	2.32	0.16640	T	-1.53	0.50012	N	0.279	0.37197	-1.0408	0.17071	T	0.025	0.10643	T	10	0.008633822	0.00196	T	0.014883	0.35280	T	0.178	0.44724	.	.	0.380246515176	0.37641	0.6550470992789403	0.65440	0.904705909758	0.70791	0.775734901428	0.78285	T	0.073549	0.34725	T	-0.250057	0.14092	T	-0.249794	0.49838	T	0.0322505323795571	0.02347	T	0.984801	0.94749	D	0.1266123	0.29651	0.19195548	0.42683	0.13357201	0.31064	0.212632	0.45740	-2.365	0.05238	T	.	.	0.156	0.54847	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.043654	0.59881	24.2	0.99563063942108254	0.71892	0.98185	0.80341	D	AEFBI	0.820114	0.74098	D	-0.0376507001010593	0.40155	2.379973	0.184545217751244	0.49000	3.108633	0.999999999999885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.668000	0.82869	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.272	0.94000	325	0.86759	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	995.33	100	chr15	52330476	.	G	A	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.111;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr15	52610294	52610294	A	G	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001286495:exon5:c.T641C:p.V214A,FAM214A:NM_001385020:exon5:c.T641C:p.V214A,FAM214A:NM_001385022:exon5:c.T356C:p.V119A,FAM214A:NM_001385023:exon5:c.T356C:p.V119A,FAM214A:NM_001385013:exon6:c.T620C:p.V207A,FAM214A:NM_001385015:exon6:c.T620C:p.V207A,FAM214A:NM_001385016:exon6:c.T620C:p.V207A,FAM214A:NM_001385017:exon6:c.T620C:p.V207A,FAM214A:NM_001385018:exon6:c.T620C:p.V207A,FAM214A:NM_001385019:exon6:c.T641C:p.V214A,FAM214A:NM_001385021:exon6:c.T620C:p.V207A,FAM214A:NM_019600:exon6:c.T620C:p.V207A,FAM214A:NM_001385014:exon7:c.T620C:p.V207A	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0304040055236	0.0049	0.00199681	0.0042	0.0012	0.0019	0	0.0011	0.0069	0.0022	0.0004	0.0044178	683	154602	rs61731677	0.0062	0.0062	0.0064	0.0060	0.0076	0.0061	0.0061	0.0074	0.0074	0.0011	0.0027	0.0021	0	0.0015	0.0050	0.0076	0.0056	0.0003	0.0042	0.0042	0.0044	0.0040	0.0073	0.0039	0.0038	0.0068	0.0066	0.0016	0	0.0029	0.0014	0	0.0012	0	0.0073	0.0047	0	0.007	0.63226	D	0.0	0.92824	D	0.962	0.55554	D	0.318	0.41660	B	0.000000	0.84330	D	0.000000	0.99992	0.51308	D	2.6	0.76081	M	1.37	0.35219	T	-1.77	0.41809	N	0.554	0.57946	-0.9011	0.47878	T	0.124	0.42862	T	10	0.0083037615	0.00188	T	0.030404	0.52725	D	0.155	0.40530	.	.	0.0675242888579	0.06100	0.46956721191608713	0.46875	0.241580751267	0.26684	0.628292322159	0.56903	T	0.01846	0.14879	T	-0.231885	0.16399	T	-0.100736	0.63342	T	0.0392778126784666	0.03561	T	0.908809	0.67676	D	0.24847426	0.47834	0.2644705	0.52267	0.24847426	0.47834	0.2644705	0.52266	-5.292	0.39864	T	.	.	0.322	0.61419	B	.;.;.;.	.;.;.;.	3.676691	0.52308	23.2	0.99850658565600003	0.93013	0.98813	0.87189	D	AEFDBI	0.858450	0.77597	D	0.615419262288526	0.74150	6.083931	0.631668773631508	0.77253	6.643647	0.999999707315184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	8.639000	0.90787	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.351	0.74102	333	0.86326	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.015152	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1998.33	44	chr15	52610294	.	A	G	1998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=889;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.69;SOR=0.914	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr15	52789786	52789786	G	T	exonic	ONECUT1	.	nonsynonymous SNV	ONECUT1:NM_004498:exon1:c.C99A:p.H33Q	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.266872187019	0.0008	0.00139776	0.0022	0.0069	0.0034	0.0010	0	0.0020	0.0068	0.0008	0.0006533	101	154602	rs202151356	0.0006	0.0006	0.0005	0.0006	0.0074	0.0006	0.0005	0.0054	0.0048	0.0015	0.0015	0.0008	0	3.061e-05	0.0074	0.0005	0.0011	0.0006	0.0010	0.0010	0.0011	0.0010	0.0022	0.0009	0.0008	0.0018	0.0017	0.0022	0	0.0007	0	0	0	0.0171	0.0006	0.0019	0.0002	0.006	0.61437	D	0.131	0.34596	T	0.923	0.51194	P	0.932	0.66722	D	0.000000	0.84330	D	0.000000	0.990213	0.41111	D	2.265	0.64440	M	0.46	0.56281	T	-3.09	0.63438	D	0.423	0.46274	-0.4325	0.70984	T	0.303	0.67381	T	10	0.011258066	0.00247	T	0.266872	0.89726	D	0.196	0.47777	0.237	0.16760	0.73717434623	0.73482	0.6085144295515603	0.60783	0.858553327071	0.68866	0.904076218605	0.96879	D	0.536775	0.84068	D	-0.375384	0.03330	T	-0.31504	0.43115	T	0.052712866491094	0.05970	T	0.750425	0.37198	T	0.56583935	0.70832	0.47062784	0.69304	0.56583935	0.70833	0.47062784	0.69304	-4.227	0.27141	T	.	.	0.19	0.40842	B	.	.	3.521245	0.49360	22.8	0.96772130753103691	0.31042	0.87868	0.47558	D	AEFDBHCI	.	.	.	0.445665494150784	0.63957	4.639928	0.391475143013073	0.61040	4.298563	0.999999999890852	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.04	4.04	0.46262	1.039000	0.29876	6.979000	0.57118	-0.253000	0.07101	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.950	0.70713	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009635	0.000000	0.010899	0.011696	0.000000	0.035088	0.006211	0.003817	0.02632	591.33	40	chr15	52789786	.	G	T	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=705;ExcessHet=0;FS=6.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.024;SOR=1.349	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1006	18	0	1	0
chr15	54014844	54014844	G	T	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.G1941T:p.Q647H,UNC13C:NM_001329919:exon2:c.G1941T:p.Q647H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0446906039798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.097	0.39190	T	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	0.984925	0.40212	D	2.175	0.60977	M	-1.52	0.81478	D	-0.73	0.20576	N	0.884	0.88246	-0.0270	0.81694	T	0.489	0.80570	T	9	0.47704458	0.60206	T	0.044691	0.61616	D	0.422	0.73078	0.234	0.16305	0.838262649207	0.83672	0.6895520786508947	0.68895	0.286173745657	0.31023	0.6071819067	0.53918	T	0.120654	0.44305	T	0.173951	0.71486	D	0.0120922	0.71118	D	0.918749451637268	0.57714	D	0.826617	0.49005	T	0.22555777	0.45219	0.30257183	0.56289	0.22555777	0.45219	0.30257183	0.56288	-4.57	0.31792	T	.	.	0.112	0.27762	B	.;.	.;.	2.915711	0.38689	20.8	0.99690596860357961	0.79909	0.95956	0.66886	D	AEFIJ	0.691670	0.65159	D	0.545353848131821	0.69798	5.408687	0.574733090601507	0.73133	5.92098	0.797222484895647	0.24121	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	2.995000	0.49129	2.966000	0.35777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0813:0.0:0.9187:0.0	11.46	0.49449	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1959.33	37	chr15	54014844	.	G	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.398;DP=913;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.925;SOR=0.747	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr15	54338415	54338415	A	G	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon16:c.A4639G:p.R1547G,UNC13C:NM_001329919:exon16:c.A4633G:p.R1545G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.0758303145083	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.015	0.61642	D	0.961	0.55431	D	0.721	0.54900	P	0.000014	0.62929	D	0.106801	0.850501	0.35214	D	1.78	0.46185	L	-1.29	0.79475	T	-4.33	0.76740	D	0.579	0.60071	0.014	0.82529	D	0.478	0.80007	T	10	0.58686095	0.66160	D	0.07583	0.72384	D	0.589	0.83582	0.67	0.80803	0.472741223727	0.46900	0.5585298296994007	0.55779	0.221161533263	0.24661	0.593324303627	0.51963	T	0.59168	0.86782	D	0.175188	0.71599	D	0.0138691	0.71232	D	0.995398223400116	0.87345	D	0.962304	0.85835	D	0.52990806	0.68825	0.56838125	0.75012	0.52990806	0.68826	0.56838125	0.75013	-7.449	0.57250	T	.	.	0.526	0.65767	A	.;.	.;.	3.419549	0.47472	22.5	0.99314620795437347	0.59129	0.92817	0.56618	D	AEFI	0.583357	0.58261	D	-0.0522510194740208	0.39502	2.330523	-0.0414201415076465	0.37863	2.22281	2.94282808048369E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	1.35	0.21078	3.479000	0.52928	3.010000	0.35957	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.4016:0.5984:0.0:0.0	12.461	0.55071	912	0.21483	.;Calcium-dependent secretion activator domain|Calcium-dependent secretion activator domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1377.33	50	chr15	54338415	.	A	G	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.923;DP=804;ExcessHet=0;FS=1.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.321;SOR=0.499	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1344	18	0	1	0
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1185.33	33	chr15	55672580	.	C	G	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=724;ExcessHet=0;FS=4.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.372;SOR=1.244	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr15	55916278	55916278	A	T	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon1:c.T554A:p.V185D,NEDD4:NM_001284339:exon1:c.T554A:p.V185D,NEDD4:NM_001284340:exon1:c.T554A:p.V185D,NEDD4:NM_198400:exon1:c.T554A:p.V185D	.	436	1084	1	1	0	3	0.00138185	.	.	.	703262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0042	0.00279553	0.0010	0.0101	0.0003	0	0	0.0002	0	6.061e-05	0.0009896	153	154602	rs143372577	0.0005	0.0005	0.0005	0.0004	0.0137	0.0004	0.0004	0.0127	0.0123	0.0137	0.0006	0	0	0	0.0078	6.026e-05	0.0013	6.957e-05	0.0030	0.0030	0.0032	0.0028	0.0103	0.0028	0.0027	0.0095	0.0092	0.0103	0	0.0008	0	0	0	0.0068	0.0001	0.0024	0	0.001	0.78490	D	0.01	0.79402	D	0.207	0.29891	B	0.074	0.28220	B	.	.	.	.	0.996269	0.26046	N	1.845	0.48678	L	1.02	0.40749	T	-0.75	0.21003	N	0.243	0.27435	-1.0365	0.18388	T	0.048	0.20434	T	9	0.0031014085	0.00051	T	.	.	.	0.045	0.12272	.	.	0.801936882606	0.80008	0.4542003348950329	0.45338	0.0716000472855	0.08021	0.264917135239	0.05491	T	0.196525	0.55293	T	-0.482484	0.00715	T	-0.456436	0.26988	T	0.0175332241772673	0.00488	T	0.792121	0.43364	T	0.26600528	0.49670	0.18273753	0.41220	0.26600528	0.49670	0.18273753	0.41219	-3.847	0.21508	T	.	.	0.165	0.46226	B	.;.;.	.;.;.	0.993539	0.13714	10.26	0.94468108739227474	0.24913	0.11260	0.16515	N	AEFDGBCI	0.088391	0.17920	N	-0.670898457225508	0.16854	0.8623503	-0.651413268072117	0.18181	0.9701054	0.999955426359537	0.48110	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	4.63	2.18	0.26813	1.293000	0.32959	0.735000	0.21116	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.979000	0.57723	0.7183:0.1441:0.0:0.1377	7.746	0.28036	715	0.56137	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.012228	0.011696	0.050000	0.008621	0.000000	0.000000	0.02632	2688.33	33	chr15	55916278	.	A	T	2688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.117;DP=1422;ExcessHet=0;FS=0.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.828;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	18	0	1	0
chr15	56094836	56094836	-	GGGGTT	exonic	RFX7	.	nonframeshift insertion	RFX7:NM_001368073:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001368074:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_001370554:exon9:c.2600_2601insAACCCC:p.T868_S869insPT,RFX7:NM_022841:exon10:c.2891_2892insAACCCC:p.T965_S966insPT,RFX7:NM_001370561:exon12:c.2891_2892insAACCCC:p.T965_S966insPT	.	433	1075	13	1	0	15	0.00692841	.	.	.	971021	Neurodevelopmental_disorder|not_provided	MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0.0039	0.0009	0.0073	0.0017	0.0004226	11	26028	rs766009038	0.0018	0.0019	0.0018	0.0018	0.0028	0.0017	0.0017	0.0022	0.0021	9.225e-05	0.0008	4.148e-05	0	0.0070	0.0028	0.0017	0.0018	0.0024	0.0018	0.0018	0.0019	0.0017	0.0034	0.0016	0.0015	0.0021	0.0019	0.0002	0.0055	0.0003	0	0	0.0071	0.0034	0.0023	0.0005	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2805.79	35	chr15	56094836	.	C	CGGGGTT	2805.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.882;DP=927;ExcessHet=0.119;FS=3.854;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.478;SOR=0.486	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1084	17	0	2	0
chr15	56095028	56095028	C	A	exonic	RFX7	.	nonsynonymous SNV	RFX7:NM_001368073:exon9:c.G2409T:p.M803I,RFX7:NM_001368074:exon9:c.G2409T:p.M803I,RFX7:NM_001370554:exon9:c.G2409T:p.M803I,RFX7:NM_022841:exon10:c.G2700T:p.M900I,RFX7:NM_001370561:exon12:c.G2700T:p.M900I	.	423	1091	7	1	0	9	0.00410771	.	.	.	3203995	not_provided|RFX7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.0135855004157	0.0002	.	0.0007	0	0.0002	0	0.0002	0.0007	0.0034	0.0018	0.0006015	93	154602	rs199811341	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0017	0.0016	5.975e-05	0.0003	0.0003	0	0.0002	0.0023	0.0005	0.0007	0.0019	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0006	0.0005	2.413e-05	0	6.548e-05	0	0	9.425e-05	0	0.0007	0.0005	0.0012	0.18	0.21968	T	0.549	0.09457	T	0.0	0.02946	B	0.0	0.01387	B	0.000004	0.62929	N	0.101144	0.996012	0.42972	D	1.265	0.31966	L	0.66	0.52416	T	-0.7	0.19933	N	0.252	0.28498	-1.0921	0.05191	T	0.084	0.32729	T	10	0.011806458	0.00256	T	0.013586	0.33109	T	.	.	0.177	0.08379	0.043077524339	0.03247	0.3276048400559071	0.32673	.	.	0.515174925327	0.40948	T	0.012251	0.10804	T	-0.44693	0.01177	T	-0.42799	0.30163	T	0.0144240528992851	0.00291	T	0.79532	0.43818	T	0.44283026	0.63584	0.389568	0.63773	0.44283026	0.63585	0.389568	0.63773	-3.976	0.23443	T	.	.	0.146	0.32153	B	.	.	3.177365	0.43117	21.7	0.92181796277193317	0.21547	0.93873	0.59438	D	AEFDBI	0.218743	0.34371	N	-0.262415023347815	0.30612	1.708447	-0.0532869262543847	0.37348	2.185592	0.999258329954256	0.38906	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	4.65	0.57626	3.168000	0.50501	4.844000	0.45312	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8631:0.1369:0.0	15.691	0.77208	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2242.33	170	chr15	56095028	.	C	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.138;DP=1968;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.234;SOR=0.74	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	18	0	1	0
chr15	56631621	56631623	ACT	-	exonic	ZNF280D	.	nonframeshift deletion	ZNF280D:NM_001002843:exon21:c.2776_2778del:p.S926del,ZNF280D:NM_001288588:exon22:c.2815_2817del:p.S939del,ZNF280D:NM_017661:exon22:c.2815_2817del:p.S939del	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.119e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs758560764	2.326e-05	2.326e-05	1.225e-05	3.438e-05	0.0003	1.674e-05	1.477e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0003	1.619e-05	4.967e-05	0.0001	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2756.29	39	chr15	56631620	.	CACT	C	2756.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=863;ExcessHet=0;FS=2.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.685;SOR=0.511	GT:AD:DP:GQ:PL	0/1:76,72:148:99:2770,0,2919	18	0	1	0
chr15	57439317	57439317	G	T	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon2:c.G1318T:p.V440L,CGNL1:NM_001252335:exon3:c.G1318T:p.V440L	.	.	.	.	.	.	.	.	.	.	.	754555	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	0.00416385327018	0.0013	.	0.0002	0.0029	0	0	0	0	0.0011	0	0.0002264	35	154602	rs141686050	0.0001	0.0001	0.0001	9.351e-05	0.0035	8.78e-05	8.267e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0.0002	8.993e-07	0.0003	0	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	0	0	0	0.089	0.32141	T	0.316	0.19362	T	0.01	0.15535	B	0.008	0.13708	B	0.001675	0.00812	N	3.127850	1	0.08975	N	1.445	0.36358	L	3.72	0.04014	T	-0.19	0.09965	N	0.127	0.12055	-0.9503	0.40920	T	0.009	0.03140	T	10	0.005564153	0.00123	T	0.004164	0.09995	T	0.095	0.27398	0.15	0.05339	0.0401082797425	0.02173	0.09401661497341653	0.09333	0.018240306212	0.01780	0.284642398357	0.08148	T	0.00595	0.05392	T	-0.70892	0.00032	T	-0.796328	0.01996	T	0.00754473843742541	0.00087	T	0.490951	0.15096	T	0.03665884	0.04553	0.03120116	0.01675	0.03665884	0.04553	0.03120116	0.01675	-2.784	0.08037	T	.	.	0.087	0.11414	B	.	.	-1.198305	0.00532	0.012	0.65818999454463278	0.07880	0.02604	0.07175	N	AEFBI	0.050602	0.08861	N	-1.83520308972683	0.00465	0.01999408	-1.89545945640261	0.00500	0.02214398	0.999985136443637	0.51787	0.744818	0.98587	0	0.573888	0.26702	0	0.732433	0.93434	0	0.655142	0.61905	0	.	.	5.41	-7.1	0.01394	-0.974000	0.03904	-5.216000	0.01803	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3146:0.1618:0.2033:0.3203	0.166	0.00101	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2452.33	151	chr15	57439317	.	G	T	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=2830;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.03;SOR=0.463	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	18	0	1	0
chr15	57961253	57961253	C	A	exonic	ALDH1A2	.	nonsynonymous SNV	ALDH1A2:NM_170697:exon9:c.G1005T:p.M335I,ALDH1A2:NM_170696:exon10:c.G1179T:p.M393I,ALDH1A2:NM_003888:exon11:c.G1293T:p.M431I,ALDH1A2:NM_001206897:exon12:c.G1230T:p.M410I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00350865977453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.02141	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000421	0.44736	D	0.291406	0.978439	0.39461	D	-1.23	0.00807	N	2.5	0.14408	T	0.35	0.06488	N	0.182	0.27435	-0.9942	0.31512	T	0.011	0.04369	T	10	0.081566215	0.13366	T	0.003509	0.07969	T	0.090	0.26093	0.339	0.32979	0.123314135267	0.11883	0.6113178128082905	0.61063	0.407868942719	0.41631	0.526733517647	0.42575	T	0.150377	0.48982	T	-0.275364	0.11166	T	-0.633318	0.10164	T	0.609194695949554	0.36768	D	0.849815	0.53298	T	0.33623105	0.55978	0.25812125	0.51539	0.33623105	0.55978	0.25812125	0.51539	-3.76	0.20208	T	.	.	0.151	0.33458	B	.;.;.;.;.	.;.;.;.;.	2.327073	0.29806	18.24	0.82449826327593545	0.14198	0.89102	0.49369	D	AEFBI	0.505066	0.53637	D	-0.454826676065697	0.23576	1.267072	-0.143887281159116	0.33644	1.926702	0.917612298318776	0.26547	0.706298	0.61202	0	0.610034	0.51514	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	1.479000	0.35061	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1516:0.8484:0.0:0.0	13.948	0.63605	871	0.31377	.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1460.33	45	chr15	57961253	.	C	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=784;ExcessHet=0;FS=3.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.631;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1347	18	0	1	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.05263	4954.83	35	chr15	58772221	.	C	T	4954.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.996;DP=996;ExcessHet=0.119;FS=8.606;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.267;SOR=1.075	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1190	17	0	2	0
chr15	58854499	58854499	A	C	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon9:c.A1755C:p.Q585H,MINDY2:NM_001040453:exon9:c.A1752C:p.Q584H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00357555662481	.	0.000199681	0.0004	0	0.0003	0	0	0	0	0.0025	0.0002911	45	154602	rs544050775	0.0002	0.0002	8.306e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0.0001	0	0	0	0.0003	8.994e-07	0.0002	0.0025	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.038	0.45756	D	0.075	0.42794	T	0.681	0.44460	P	0.34	0.48916	B	0.120000	0.19053	N	0.513245	0.987849	0.24474	N	.	.	.	0.77	0.49642	T	-1.3	0.32590	N	0.176	0.18920	-0.9652	0.38171	T	0.123	0.42547	T	10	0.015164822	0.00318	T	0.003576	0.08154	T	0.048	0.13305	0.163	0.06730	0.639199560535	0.63622	0.18327613625975894	0.18246	0.425055007789	0.42922	0.498948991299	0.38681	T	0.033707	0.23026	T	-0.465726	0.00905	T	-0.446997	0.28028	T	0.102286406077583	0.12607	T	0.686431	0.29515	T	0.05587999	0.10919	0.06550123	0.13284	0.05587999	0.10918	0.06550123	0.13283	-5.558	0.42407	T	.	.	0.147	0.32517	B	.;.	.;.	2.696198	0.35208	19.84	0.99204287633522492	0.55381	0.97961	0.78453	D	AEFDBIJ	0.395032	0.47205	N	0.285556493568999	0.55416	3.705662	0.39983297243605	0.61554	4.357191	0.85977019622505	0.25203	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	2.434000	0.44460	4.099000	0.41853	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.9255:0.0:0.0745:0.0	10.011	0.41158	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1077.83	42	chr15	58854499	.	A	C	1077.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=689;ExcessHet=0.119;FS=3.592;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.572;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	17	0	2	0
chr15	59058487	59058487	T	A	exonic	RNF111	.	nonsynonymous SNV	RNF111:NM_001270528:exon5:c.T1303A:p.S435T,RNF111:NM_001270529:exon5:c.T1303A:p.S435T,RNF111:NM_001270530:exon5:c.T1303A:p.S435T,RNF111:NM_001330331:exon5:c.T1303A:p.S435T,RNF111:NM_017610:exon5:c.T1303A:p.S435T	.	444	1054	22	2	0	26	0.0121837	.	.	.	714511	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00771183391032	0.0015	0.00199681	0.0020	0.0007	0.0041	0	0	0.0025	0.0022	0.0013	0.0018823	291	154602	rs142293140	0.0016	0.0016	0.0016	0.0016	0.0241	0.0015	0.0015	0.0209	0.0196	0.0012	0.0038	0.0049	0	0	0.0241	0.0013	0.0032	0.0017	0.0016	0.0017	0.0015	0.0018	0.0044	0.0015	0.0014	0.0036	0.0033	0.0007	0.0033	0.0044	0.0040	0	0	0.0137	0.0016	0.0061	0.0017	0.004	0.68238	D	0.192	0.28860	T	0.152	0.28062	B	0.107	0.31211	B	0.000812	0.41658	D	0.285166	0.686965	0.33289	D	1.355	0.33814	L	2.41	0.15492	T	-0.35	0.29114	N	0.52	0.56317	-1.0527	0.13655	T	0.021	0.09009	T	10	0.0036854148	0.00068	T	0.007712	0.20457	T	0.041	0.10877	.	.	0.305926609036	0.30200	0.13337447934817176	0.13261	0.031808605618	0.03299	0.409914076328	0.26444	T	0.102497	0.41028	T	-0.461876	0.00957	T	-0.437703	0.29065	T	0.0246301174928638	0.01225	T	0.825917	0.49049	T	0.09783147	0.23067	0.14426728	0.34257	0.09783147	0.23067	0.14426728	0.34256	-3.812	0.21059	T	.	.	0.073	0.07272	B	.;.;.;.;.	.;.;.;.;.	2.225688	0.28409	17.79	0.98288512908733516	0.39926	0.78277	0.38595	D	AEFDBI	0.076830	0.15464	N	-0.210799409194394	0.32690	1.846336	-0.0386504913373798	0.37985	2.231625	0.996372299237139	0.34702	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.79	0.42757	1.203000	0.31890	3.459000	0.38500	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2023:0.0:0.7977	9.281	0.36888	525	0.74024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025227	0.045455	0.033967	0.032164	0.000000	0.043103	0.006173	0.007576	0.02632	1050.33	33	chr15	59058487	.	T	A	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.401;DP=693;ExcessHet=0;FS=1.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.364;SOR=0.969	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr15	59207979	59207979	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1039G:p.N347D	.	430	1024	68	0	0	68	0.0321361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00472821439629	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79607288	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.316e-05	0.0008	1.288e-05	1.347e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.474e-05	0	0	0.08	0.33585	T	0.101	0.38596	T	0.011	0.15914	B	0.036	0.22909	B	0.003291	0.35154	U	0.227134	0.615938	0.32663	D	1.295	0.32453	L	-0.25	0.67011	T	-2.22	0.49846	N	0.126	0.11912	-0.8740	0.50226	T	0.196	0.55056	T	10	0.14880553	0.28173	T	0.004728	0.11784	T	0.062	0.17934	.	.	0.536616348568	0.53311	0.03866333602263275	0.03812	0.0189453964245	0.01848	0.306285023689	0.11345	T	0.108095	0.42085	T	-0.127537	0.31894	T	-0.420975	0.30964	T	0.306236803531647	0.25260	T	0.586841	0.21439	T	0.2530445	0.48323	0.33686218	0.59483	0.2530445	0.48323	0.33686218	0.59482	-5.914	0.45554	T	.	.	0.069	0.03197	B	.	.	0.917677	0.12926	9.433	0.98872967153225388	0.47684	0.07590	0.13600	N	AEFDBI	0.038607	0.05489	N	-0.795969993998664	0.13414	0.6606697	-0.870301225830774	0.12801	0.6605371	0.967472809720144	0.28980	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	2.42	0.28720	0.587000	0.23611	6.392000	0.55560	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.239000	0.22975	1.0:0.0:0.0:0.0	8.344	0.31422	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	36	chr15	59207979	.	A	G	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.694;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.95;MQRankSum=-8.398;QD=0.55;ReadPosRankSum=1.6;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2753:59207979	18	0	1	0
chr15	59207981	59207981	C	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.C1041G:p.N347K	.	430	1025	67	0	0	67	0.0316486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0107333217821	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs77368390	4.792e-06	0.0002	2.725e-06	6.881e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	1.318e-05	0.0008	1.289e-05	1.349e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.475e-05	0	0	0.034	0.44029	D	0.115	0.36630	T	0.305	0.32678	B	0.117	0.32014	B	0.003291	0.35154	U	0.227134	0.999999	0.58761	D	1.805	0.47535	L	-0.29	0.67712	T	-3.34	0.66325	D	0.17	0.18103	-0.8079	0.54677	T	0.219	0.58137	T	10	0.21257398	0.37721	T	0.010733	0.27599	T	0.103	0.29403	0.397	0.42426	0.471700387322	0.46796	0.05045534889425341	0.04988	0.0253377058962	0.02582	0.306099057198	0.11317	T	0.302661	0.67505	T	-0.0797341	0.39756	T	-0.352309	0.38941	T	0.683018445968628	0.39926	D	0.776522	0.40874	T	0.32717288	0.55238	0.5131278	0.71866	0.32717288	0.55238	0.5131278	0.71867	-5.282	0.39764	T	.	.	0.118	0.24226	B	.	.	-0.001911	0.04269	1.063	0.96235942516509487	0.29135	0.02801	0.07522	N	AEFDBI	0.047688	0.08056	N	-0.942493850555712	0.09862	0.468649	-1.10702193125262	0.07565	0.3684791	0.76259482655588	0.23535	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	-0.268	0.12295	-0.035000	0.12156	-1.340000	0.05675	-0.828000	0.02899	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:0.2736:0.0:0.7264	5.910	0.18265	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	51.85	36	chr15	59207981	.	C	G	51.85	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.618;DP=846;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0553;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-7.274;QD=0.33;ReadPosRankSum=1.66;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2753:59207979	17	0	2	0
chr15	59208031	59208031	A	C	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1091C:p.H364P	.	424	1044	54	0	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00486081327491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145956187	6.95e-07	4.31e-05	0	1.398e-06	9.039e-07	0	0	.	.	0	0	0	0	0	0	9.039e-07	0	0	6.575e-06	0.0004	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.04	0.42199	D	0.209	0.26798	T	0.006	0.13644	B	0.016	0.17743	B	0.352047	0.13800	U	0.634852	0.985489	0.40291	D	0.625	0.15840	N	-0.23	0.66652	T	-1.17	0.29933	N	0.144	0.14480	-0.8837	0.49464	T	0.196	0.55028	T	10	0.1232011	0.23384	T	0.004861	0.12192	T	0.221	0.51721	.	.	0.432493127443	0.42867	0.4412992855339442	0.44046	0.0234488037338	0.02381	0.22820186615	0.01838	T	0.087428	0.37940	T	-0.122539	0.32710	T	-0.413795	0.31788	T	0.31803297996521	0.25742	T	0.433957	0.11861	T	0.36126763	0.57932	0.27047408	0.52939	0.36126763	0.57933	0.27047408	0.52938	-8.579	0.64950	D	.	.	0.161	0.35663	B	.	.	0.622097	0.09905	6.665	0.23076867992127034	0.00959	0.78590	0.38796	D	AEFDBI	0.209905	0.33585	N	-1.22873326991558	0.04588	0.2073661	-1.31514284077204	0.04234	0.1992842	0.811020413863431	0.24355	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	-1.62	0.07926	3.643000	0.54109	-4.724000	0.02015	-0.462000	0.05112	1.000000	0.71638	0.000000	0.08366	0.235000	0.22869	0.5639:0.0:0.4361:0.0	5.192	0.14542	341	0.85936	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.33	36	chr15	59208031	.	A	C	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=797;ExcessHet=0;FS=1.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.65;MQRankSum=-7.516;QD=1.06;ReadPosRankSum=-0.489;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,6:58:75:0|1:59208023_A_G:75,0,2155:59208023	18	0	1	0
chr15	59208039	59208039	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1099G:p.K367E	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0044559325617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386454738	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.09	0.40267	T	0.362	0.33945	B	0.16	0.34752	B	0.003617	0.34713	U	0.179677	1	0.81001	D	2.055	0.56616	M	-0.33	0.68329	T	-2.56	0.55339	D	0.316	0.35620	-0.7192	0.59502	T	0.221	0.58434	T	10	0.3018667	0.47726	T	0.004456	0.10906	T	0.184	0.45763	.	.	0.707097973601	0.70454	0.0805445634393412	0.07989	0.0946744460692	0.10693	0.317170917988	0.12992	T	0.288609	0.66141	T	-0.0918196	0.37777	T	-0.369669	0.36927	T	0.475559115409851	0.31735	T	0.737626	0.35462	T	0.30485794	0.53337	0.2265665	0.47638	0.30485794	0.53337	0.2265665	0.47637	-6.212	0.48020	T	.	.	0.072	0.04316	B	.	.	1.653422	0.21093	15.05	0.96544986378234454	0.30200	0.78226	0.38563	D	AEDBI	0.126814	0.24391	N	-0.476633201795909	0.22848	1.222878	-0.60383256547261	0.19395	1.04034	0.911661248317906	0.26373	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	1.47	0.21832	2.835000	0.47876	6.311000	0.55429	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	1.0:0.0:0.0:0.0	6.659	0.22195	341	0.85936	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	48.33	36	chr15	59208039	.	A	G	48.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.82;MQRankSum=-7.245;QD=0.9;ReadPosRankSum=-1.603;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,5:54:62:0|1:59208023_A_G:62,0,2042:59208023	18	0	1	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.02632	800.33	48	chr15	60466706	.	T	C	800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-0.197;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	18	0	1	0
chr15	60468129	60468129	T	G	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001276385:exon4:c.A340C:p.K114Q,ICE2:NM_024611:exon4:c.A340C:p.K114Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00830054989576	.	.	4.947e-05	0	0.0002	0	0	1.5e-05	0.0011	0.0001	3.88e-05	6	154602	rs748547524	7.389e-05	7.388e-05	5.854e-05	8.939e-05	0.0050	6.248e-05	5.808e-05	0.0036	0.0031	5.974e-05	0.0001	0	0	0	0.0050	4.677e-05	0.0002	0.0001	2.625e-05	2.625e-05	5.138e-05	0	2.405e-05	8.13e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.009	0.58626	D	0.0	0.92824	D	0.954	0.54400	P	0.554	0.49340	P	0.000050	0.53742	D	0.194671	0.519801	0.81001	D	.	.	.	.	.	.	-1.37	0.60507	N	0.601	0.62950	-0.8305	0.53270	T	0.159	0.49279	T	9	0.274957	0.45051	T	0.008301	0.21979	T	0.093	0.26882	0.358	0.36060	0.646007317467	0.64307	0.512059294879519	0.51127	0.141266316295	0.15928	0.59004843235	0.51500	T	0.216535	0.57873	T	-0.148869	0.28488	T	-0.182316	0.56309	T	0.097178190946579	0.12043	T	0.815218	0.46991	T	0.20045169	0.42020	0.1766743	0.40218	0.20045169	0.42020	0.1766743	0.40217	-4.371	0.29161	T	.	.	0.142	0.31832	B	.;.;.;.	.;.;.;.	4.269369	0.64944	24.8	0.99417213396951831	0.63597	0.96434	0.69120	D	AEBI	0.539992	0.55674	D	0.471532398906377	0.65436	4.822113	0.550566393939545	0.71437	5.654692	0.999999993705285	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.98	5.98	0.97147	4.922000	0.63103	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.203	0.65261	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008586	0.000000	0.006793	0.032164	0.000000	0.017241	0.000000	0.000000	0.02632	1519.33	42	chr15	60468129	.	T	G	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=746;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.702;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	18	0	1	0
chr15	61882694	61882694	G	C	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon67:c.C9397G:p.R3133G,VPS13C:NM_018080:exon67:c.C9397G:p.R3133G,VPS13C:NM_001018088:exon69:c.C9526G:p.R3176G,VPS13C:NM_020821:exon69:c.C9526G:p.R3176G	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	433	1070	19	0	0	19	0.00880037	.	.	.	726159	VPS13C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0184529955387	0.0018	0.00159744	0.0023	0.0004	0.0004	0	0.0008	0.0025	0.0011	0.0059	0.0021086	326	154602	rs115741196	0.0019	0.0020	0.0018	0.0020	0.0098	0.0019	0.0019	0.0078	0.0070	0.0005	0.0003	0.0005	0	0.0006	0.0098	0.0020	0.0017	0.0049	0.0013	0.0013	0.0014	0.0013	0.0056	0.0012	0.0011	0.0040	0.0034	0.0003	0	0.0003	0.0006	0	0.0005	0.0068	0.0022	0.0014	0.0056	0.376	0.12226	T	.	.	.	0.088	0.27649	B	0.051	0.31370	B	0.303359	0.14559	N	0.699431	1	0.08975	N	2.19	0.61577	M	0.86	0.46777	T	-2.57	0.55821	D	0.442	0.48411	-0.9769	0.35705	T	0.134	0.44817	T	10	0.00571543	0.00127	T	0.018453	0.40518	T	0.145	0.38592	.	.	0.367803931526	0.36392	0.26168657494625236	0.26081	0.0313805794318	0.03254	0.218336567283	0.01216	T	0.034621	0.23393	T	-0.4139	0.01873	T	-0.366086	0.37346	T	0.0198486698404734	0.00687	T	0.90461	0.66442	D	0.10533421	0.24904	0.096900284	0.23042	0.07884427	0.17979	0.07963763	0.17945	-5.463	0.41521	T	0.29386029186188106	0.39068	0.111	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	2.974263	0.39654	21.0	0.95853217865136675	0.27997	0.28296	0.23515	N	AEFBI	0.243561	0.36482	N	-0.33754671917259	0.27733	1.523938	-0.312393325887731	0.27698	1.538804	0.00246530857512632	0.09453	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	4.44	0.53164	2.927000	0.48595	4.488000	0.43560	0.618000	0.50648	0.245000	0.24799	1.000000	0.68203	0.953000	0.50222	0.0757:0.0:0.6751:0.2492	8.532	0.32501	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.010101	0.009511	0.008772	0.000000	0.008621	0.000000	0.011364	0.02632	2538.33	33	chr15	61882694	.	G	C	2538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=874;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.229;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr15	61915802	61915804	CTC	-	exonic	VPS13C	.	nonframeshift deletion	VPS13C:NM_017684:exon59:c.8145_8147del:p.R2716del,VPS13C:NM_018080:exon59:c.8145_8147del:p.R2716del,VPS13C:NM_001018088:exon61:c.8274_8276del:p.R2759del,VPS13C:NM_020821:exon61:c.8274_8276del:p.R2759del	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276580935	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2760.29	43	chr15	61915801	.	TCTC	T	2760.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=774;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=1.66;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	18	0	1	0
chr15	61920099	61920099	C	T	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon55:c.G7316A:p.R2439H,VPS13C:NM_018080:exon55:c.G7316A:p.R2439H,VPS13C:NM_001018088:exon57:c.G7445A:p.R2482H,VPS13C:NM_020821:exon57:c.G7445A:p.R2482H	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	436	1014	71	1	0	73	0.0347454	.	.	.	1260739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0050	0.0127796	0.0133	0.0014	0.0046	0.0008	0.0059	0.0091	0.0277	0.0528	0.0121797	1883	154602	rs115481870	0.0095	0.0095	0.0080	0.0110	0.0500	0.0093	0.0093	0.0487	0.0482	0.0020	0.0044	0.0094	0.0004	0.0069	0.0216	0.0071	0.0112	0.0500	0.0065	0.0065	0.0057	0.0075	0.0450	0.0062	0.0061	0.0401	0.0382	0.0017	0.0022	0.0041	0.0086	0.0012	0.0066	0.0102	0.0076	0.0081	0.0450	0.056	0.53172	T	.	.	.	0.98	0.62325	D	0.508	0.56482	P	0.000001	0.62929	D	0.057843	1	0.81001	D	2.82	0.82106	M	0.87	0.46412	T	-2.41	0.52938	N	0.209	0.46649	-0.6703	0.61815	T	0.180	0.52690	T	10	0.004328251	0.00087	T	.	.	.	0.124	0.34239	.	.	.	.	0.4672191266007829	0.46640	0.0288716110594	0.02972	0.397253215313	0.24687	T	0.030815	0.21752	T	-0.384361	0.02924	T	-0.28764	0.46018	T	0.038208985751091	0.03370	T	0.984801	0.94749	D	0.16818276	0.37260	0.14348288	0.34099	0.16495617	0.36736	0.14348288	0.34098	-3.33	0.14963	T	0.6857515238246452	0.76277	0.075	0.05711	B	.;.;.;.;.;.	.;.;.;.;.;.	4.384751	0.67615	25.1	0.99915516095398893	0.98379	0.98276	0.81177	D	AEFBI	0.627211	0.60975	D	0.643695989814926	0.75961	6.399439	0.639632664212464	0.77841	6.757618	0.999999997944018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.820000	0.68932	3.257000	0.37065	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.0:1.0:0.0:0.0	19.522	0.95183	914	0.21048	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.020141	0.000000	0.021739	0.014620	0.000000	0.008621	0.030488	0.022727	0.05263	1525.81	35	chr15	61920099	.	C	T	1525.81	.	AC=2;AF=0.053;AN=38;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.52;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	18	1	0	0
chr15	61945803	61945803	G	A	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon43:c.C4931T:p.A1644V,VPS13C:NM_018080:exon43:c.C4931T:p.A1644V,VPS13C:NM_001018088:exon45:c.C5060T:p.A1687V,VPS13C:NM_020821:exon45:c.C5060T:p.A1687V	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	432	1055	33	2	0	37	0.0172333	.	.	.	714522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00399361	0.0037	0.0008	0.0010	0.0002	0.0012	0.0033	0.0044	0.0116	0.0032988	510	154602	rs114089496	0.0032	0.0032	0.0030	0.0035	0.0113	0.0032	0.0031	0.0107	0.0105	0.0005	0.0013	0.0005	5.047e-05	0.0010	0.0092	0.0030	0.0031	0.0113	0.0020	0.0020	0.0019	0.0021	0.0108	0.0018	0.0017	0.0084	0.0076	0.0005	0	0.0015	0.0006	0.0002	0.0011	0.0102	0.0027	0.0038	0.0108	0.294	0.49117	T	.	.	.	0.038	0.23455	B	0.066	0.30313	B	0.064746	0.21930	N	0.499217	0.976149	0.25392	N	2.215	0.62545	M	0.94	0.43672	T	-0.98	0.26639	N	0.096	0.24260	-0.9987	0.30283	T	0.108	0.39075	T	10	0.006000012	0.00135	T	.	.	.	0.035	0.08770	.	.	0.476908202251	0.47319	0.324965648843083	0.32409	0.0267110625273	0.02732	0.328295946121	0.14677	T	0.021808	0.16921	T	-0.563124	0.00243	T	-0.57227	0.15243	T	0.00707998729020647	0.00081	T	0.90161	0.65783	D	0.030280372	0.02663	0.053890113	0.09165	0.031328395	0.02953	0.048879843	0.07353	-4.258	0.29880	T	0.26190785582347703	0.35351	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	1.867846	0.23728	16.13	0.9957987310565598	0.72921	0.48904	0.28312	N	AEFBI	0.137811	0.25891	N	-0.28019721746193	0.29914	1.663151	-0.1814191148143	0.32219	1.830927	0.0667973363825362	0.15405	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.44	4.5	0.54382	2.169000	0.42061	3.638000	0.39337	0.618000	0.50648	0.312000	0.25432	0.610000	0.25763	0.996000	0.76049	0.076:0.2944:0.6296:0.0	8.991	0.35187	892	0.26670	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.011364	0.02632	1603.33	34	chr15	61945803	.	G	A	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.497;DP=750;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.491;SOR=0.875	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1192	18	0	1	0
chr15	62013112	62013112	C	T	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon9:c.G623A:p.R208Q,VPS13C:NM_018080:exon9:c.G623A:p.R208Q,VPS13C:NM_001018088:exon11:c.G752A:p.R251Q,VPS13C:NM_020821:exon11:c.G752A:p.R251Q	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0217590600991	.	.	1.674e-05	9.831e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs770962714	8.258e-06	8.209e-06	1.095e-05	5.534e-06	0.0002	4.4e-06	3.48e-06	4.11e-05	2.392e-05	0.0001	0	0	5.092e-05	0	0.0002	4.513e-06	0	0	1.977e-05	1.971e-05	1.288e-05	2.7e-05	6.574e-05	5.26e-06	2.46e-06	8.02e-06	3e-06	4.837e-05	0	6.574e-05	0	0	0	0	0	0	0	0.048	0.40832	D	.	.	.	0.081	0.30795	B	0.018	0.30390	B	0.074676	0.21270	N	0.467855	1	0.08975	N	1.715	0.44382	L	0.96	0.43279	T	-1.75	0.41428	N	0.281	0.33250	-1.0143	0.25561	T	0.102	0.37718	T	10	0.12729573	0.24206	T	0.021759	0.44572	T	0.067	0.19503	0.45	0.51121	0.29527378943	0.29149	0.4598493784842955	0.45902	0.0405451585251	0.04348	0.228607952595	0.01867	T	0.034855	0.23489	T	-0.305378	0.08162	T	-0.439762	0.28834	T	0.145331084728241	0.16726	T	0.910609	0.68297	D	0.055219382	0.10703	0.080821365	0.18316	0.055219382	0.10703	0.080821365	0.18315	-4.548	0.31512	T	0.6256520437436853	0.69448	0.072	0.04396	B	.;.;.;.;.;.	.;.;.;.;.;.	1.824507	0.23182	15.92	0.99603262196242592	0.74338	0.60814	0.31304	D	AEFBI	0.080623	0.16304	N	-0.626078955093538	0.18163	0.9408202	-0.616610746502964	0.19067	1.021357	0.930886463550041	0.27025	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.83	2.29	0.27658	1.999000	0.40425	1.343000	0.25751	-0.864000	0.02607	0.906000	0.31575	0.789000	0.26847	0.303000	0.24570	0.0:0.7738:0.0:0.2262	10.380	0.43287	881	0.29269	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.;Vacuolar protein sorting-associated protein 13, second N-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	558.33	33	chr15	62013112	.	C	T	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=659;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.435;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	18	0	1	0
chr15	62164875	62164875	G	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.C110A:p.P37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.674	0.638935419067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	0.999921	0.51308	D	2.77	0.80896	M	-3.09	0.92613	D	-7.96	0.96342	D	0.467	0.50327	0.925	0.96033	D	0.871	0.95721	D	10	0.7507841	0.75621	D	0.638935	0.96918	D	0.674	0.87965	0.387	0.40788	0.914223916533	0.91336	0.27050885046482614	0.26963	1.88731367476	0.92685	0.781039059162	0.79084	T	0.409804	0.76473	T	0.171674	0.71276	D	0.00882071	0.70906	D	0.999442160129547	0.97429	D	0.878312	0.59309	D	0.86357	0.88359	0.8636767	0.92431	0.86357	0.88360	0.8636767	0.92431	-5.013	0.36981	T	.	.	0.461	0.62762	A	.	.	4.649361	0.74094	26.1	0.98969475893933423	0.49501	0.79596	0.39472	D	AEFDBCIJ	0.643941	0.62037	D	0.583141695911735	0.72122	5.756411	0.461519149360054	0.65460	4.826614	0.99999878300659	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	4.05	3.12	0.34986	6.008000	0.70397	7.723000	0.67399	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.16:0.84:0.0	13.278	0.59633	277	0.89083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1029.33	37	chr15	62164875	.	G	T	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=782;ExcessHet=0;FS=11.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.952;SOR=0.649	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1295	18	0	1	0
chr15	62805610	62805610	C	T	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon48:c.C6488T:p.S2163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	.	7.7e-05	0.00219649	0.0007	0	0	0.0075	0.0003	0.0002	0.0011	0	0.0006015	93	154602	rs139180466	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0052	0.0050	0	0	0.0001	0.0058	7.534e-05	0	4.448e-05	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0060	0.0002	0.0001	0.0043	0.0038	0	0	6.542e-05	0	0.0060	0	0	2.941e-05	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	0.065	0.23521	B	0.035	0.22741	B	0.000002	0.62929	D	0.060752	0.999993	0.58761	D	2.28	0.64929	M	-0.47	0.70133	T	-4.64	0.80425	D	0.857	0.85343	-0.5063	0.68421	T	0.273	0.64453	T	10	0.008244067	0.00187	T	.	.	.	.	.	.	.	0.437144778361	0.43335	0.5675127718770578	0.56679	0.196203385592	0.21972	0.652168869972	0.60293	T	0.791346	0.94583	D	-0.140762	0.29768	T	0.0276403	0.72126	D	0.234126190475209	0.22147	T	0.952705	0.81989	D	0.7098172	0.78598	0.5463395	0.73776	0.7098172	0.78599	0.5463395	0.73776	-10.492	0.76801	D	.	.	0.101	0.19114	B	.;.;.	.;.;.	4.170074	0.62695	24.5	0.99862162170115354	0.94093	0.99560	0.97447	D	AEFGBI	0.943351	0.94910	D	0.212166591261603	0.51789	3.35739	0.345926357711034	0.58262	3.995823	0.999999997910255	0.74766	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	5.93	5.0	0.66209	7.905000	0.86479	4.832000	0.45208	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1325:0.8675:0.0:0.0	16.411	0.83549	908	0.22609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2939.33	33	chr15	62805610	.	C	T	2939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.766;SOR=0.686	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M,FBXL22:NM_001367808:exon1:c.G124A:p.V42M,FBXL22:NM_001367809:exon1:c.G124A:p.V42M,FBXL22:NM_203373:exon1:c.G124A:p.V42M	.	435	1084	3	0	0	3	0.00138185	.	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1034.33	34	chr15	63597516	.	G	A	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.061;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.379;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr15	63912195	63912195	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001384999:exon8:c.G662A:p.R221Q,DAPK2:NM_001384998:exon9:c.G815A:p.R272Q	.	428	1087	7	0	0	7	0.00320954	.	.	.	717962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.0107827	0.0051	9.779e-05	0.0002	0.0001	0	4.562e-05	0.0023	0.0368	0.0044243	684	154602	rs149186606	0.0021	0.0021	0.0012	0.0030	0.0334	0.0020	0.0020	0.0324	0.0320	0.0002	8.944e-05	0	0.0001	0	0.0009	3.777e-05	0.0022	0.0334	0.0011	0.0011	0.0007	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.015152	0.02632	257.33	34	chr15	63912195	.	C	T	257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=738;ExcessHet=0;FS=2.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=-0.954;SOR=0.887	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1203	18	0	1	0
chr15	64680355	64680355	C	T	exonic	ZNF609	.	nonsynonymous SNV	ZNF609:NM_015042:exon7:c.C3940T:p.P1314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.267696966149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.104	0.38160	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	-1.06	0.76819	T	-4.85	0.81107	D	0.676	0.68342	0.321	0.87892	D	0.621	0.86655	D	10	0.7567622	0.76040	D	0.267697	0.89757	D	0.526	0.79947	0.203	0.11797	0.440737469742	0.43695	0.7114887581674972	0.71090	0.951127366345	0.72634	0.822704136372	0.85443	D	0.473845	0.80554	T	0.141393	0.68457	D	-0.0346757	0.68058	D	0.997464299201965	0.91620	D	0.951205	0.81406	D	0.7612366	0.81526	0.6436896	0.79174	0.7612366	0.81528	0.6436896	0.79175	-3.158	0.11975	T	.	.	0.908	0.83281	P	.	.	4.663389	0.74453	26.2	0.99881121547624285	0.95733	0.99224	0.93061	D	AEFDGBI	0.806215	0.73058	D	0.794051412586165	0.85731	8.664839	0.772590587991645	0.87832	9.360351	0.999999999999986	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.28	5.28	0.74118	7.565000	0.81337	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.903	0.92423	277	0.89083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1072.33	35	chr15	64680355	.	C	T	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.25;DP=699;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=0.465;SOR=0.439	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr15	64819197	64819197	C	T	exonic	PIF1	.	nonsynonymous SNV	PIF1:NM_001286496:exon9:c.G1360A:p.D454N,PIF1:NM_001286497:exon9:c.G1360A:p.D454N,PIF1:NM_001286499:exon9:c.G1201A:p.D401N,PIF1:NM_025049:exon9:c.G1360A:p.D454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.0879531328616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239692299	6.883e-07	6.84e-07	1.369e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.666e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.02	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-2.39	0.88377	D	-4.69	0.79743	D	0.765	0.76388	0.804	0.94461	D	0.835	0.94479	D	10	0.8624225	0.85469	D	0.087953	0.75037	D	0.715	0.89877	0.615	0.74884	0.837646320389	0.83610	0.7992406541428656	0.79877	0.375287385278	0.38983	0.550806224346	0.45971	T	0.407129	0.76283	T	0.146282	0.68919	D	-0.0276525	0.68524	D	0.99825793504715	0.93644	D	0.951005	0.81304	D	0.9117403	0.92457	0.77710736	0.86852	0.9117403	0.92458	0.77710736	0.86853	-9.143	0.68613	D	.	.	0.609	0.70605	P	.;.;.	.;.;.	4.695837	0.75298	26.3	0.99910959677766809	0.98022	0.99722	0.98964	D	AEFBI	0.898348	0.84153	D	0.778854442303317	0.84767	8.380468	0.692990609942491	0.81847	7.623225	0.999999999935043	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	7.632000	0.82419	5.360000	0.48398	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:1.0:0.0:0.0	16.123	0.81183	166	0.93555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	36	chr15	64819197	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=698;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.257;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr15	64922011	64922011	G	C	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon4:c.G358C:p.E120Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0095	0.00938498	0.0024	0.0264	0.0015	0	0	6.088e-05	0.0011	0	0.0022833	353	154602	rs76626463	0.0007	0.0007	0.0008	0.0005	0.0233	0.0006	0.0006	0.0219	0.0214	0.0233	0.0013	0	0	0	0.0010	4.856e-05	0.0014	2.319e-05	0.0072	0.0073	0.0075	0.0069	0.0252	0.0069	0.0068	0.0239	0.0234	0.0252	0	0.0027	0	0	0	0	0.0002	0.0024	0	0.375	0.26085	T	0.457	0.32355	T	0.199	0.29618	B	0.158	0.34617	B	0.086684	0.20573	N	0.371143	1	0.23598	N	-0.69	0.01958	N	-0.07	0.63738	T	-0.4	0.29525	N	0.378	0.45331	-1.0220	0.23063	T	0.014	0.05561	T	10	0.003613919	0.00066	T	.	.	.	0.059	0.16972	.	.	0.243972157842	0.24002	0.2300183873606361	0.22916	.	.	0.364233136177	0.20000	T	0.004667	0.04082	T	-0.540169	0.00334	T	-0.529095	0.19376	T	0.0410108016596407	0.03874	T	0.764224	0.49290	T	0.061132155	0.12624	0.06735987	0.13923	0.061132155	0.12624	0.06735987	0.13923	-4.255	0.27541	T	.	.	0.090	0.30476	B	.;.;.;.;.	.;.;.;.;.	2.220757	0.28343	17.76	0.90155450646136082	0.19433	0.81266	0.40706	D	AEFDGBI	0.515961	0.54270	D	-0.434528200246777	0.24268	1.30913	-0.322977769537167	0.27358	1.517504	0.348686480139913	0.19660	0.516011	0.20929	0	0.588066	0.40923	0	0.575513	0.27324	1	0.586402	0.36253	0	.	.	4.63	2.74	0.31352	3.092000	0.49904	3.999000	0.41057	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1828:0.0:0.8172:0.0	9.972	0.40932	225	0.91282	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	722.33	37	chr15	64922011	.	G	C	722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=700;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.572;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	18	0	1	0
chr15	65099704	65099704	G	C	exonic	UBAP1L	.	nonsynonymous SNV	UBAP1L:NM_001163692:exon4:c.C710G:p.P237R	.	435	1084	3	0	0	3	0.00138185	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0524383170564	.	0.000199681	0.0002	0	0	0	0	0	0	0.0005	3.23e-05	5	154602	rs545763415	0.0002	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0006	0.0005	0	0.0004	0	0	0	0.0011	9.938e-05	0.0004	0.0007	9.189e-05	9.186e-05	6.423e-05	0.0001	0.0004	5.522e-05	4.36e-05	8.868e-05	5.28e-05	0	0	0.0003	0	0	0	0.0034	8.82e-05	0.0005	0.0004	0.003	0.68238	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.996461	0.43220	D	1.1	0.28011	L	.	.	.	-3.19	0.64593	D	0.366	0.40765	-0.4623	0.69990	T	0.229	0.59484	T	8	0.08630091	0.14656	T	0.052438	0.65069	D	0.421	0.73005	0.4	0.42917	0.104622674875	0.10061	0.720867837922526	0.72029	.	.	0.655838549137	0.60815	T	0.134789	0.46623	T	-0.162344	0.26399	T	-0.0564132	0.66582	D	0.145081106190048	0.16705	T	0.674733	0.28305	T	0.54417783	0.69631	0.7200041	0.83469	0.54417783	0.69632	0.7200041	0.83470	-5.127	0.38190	T	.	.	0.194	0.41387	B	.;.	.;.	3.974872	0.58395	24.0	0.99825351936037121	0.90764	0.98933	0.88820	D	AEFBI	0.647517	0.62266	D	0.496231636163396	0.66870	5.00636	0.542592058594019	0.70882	5.571262	0.999999974728385	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.573078	0.19857	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	4.000000	0.56751	3.712000	0.39559	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.738	0.91729	392	0.83172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	34	chr15	65099704	.	G	C	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.227;DP=852;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.047;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr15	65118763	65118763	G	A	exonic	PDCD7	.	nonsynonymous SNV	PDCD7:NM_005707:exon5:c.C1412T:p.P471L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00417845807117	.	.	7.455e-05	0.0005	0	0	0	0	0	0.0002	5.82e-05	9	154602	rs61756022	2.402e-05	2.463e-05	2.321e-05	2.484e-05	0.0002	1.745e-05	1.544e-05	9.819e-05	6.995e-05	0.0002	6.805e-05	0	2.543e-05	0	0	1.081e-05	0	0.0001	7.229e-05	7.224e-05	7.709e-05	6.727e-05	0.0002	3.972e-05	3.128e-05	0.0001	8.457e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0002	0.018	0.53900	D	0.248	0.54934	T	0.196	0.29532	B	0.021	0.19346	B	0.059652	0.22307	N	0.405109	0.591604	0.32461	D	0.55	0.14455	N	.	.	.	-2.18	0.74504	N	0.262	0.29659	-0.9722	0.36734	T	0.067	0.27708	T	9	0.07673204	0.12024	T	0.004178	0.10058	T	0.082	0.23913	.	.	0.508223314113	0.50461	0.35189834949469806	0.35103	.	.	0.389683961868	0.23626	T	0.111466	0.42697	T	-0.329953	0.06115	T	-0.414171	0.31746	T	0.0412723051495629	0.03921	T	0.863014	0.55864	D	0.040679358	0.05853	0.05568031	0.09811	0.040679358	0.05853	0.05568031	0.09811	-5.736	0.44013	T	.	.	0.129	0.30555	B	.;.	.;.	3.368773	0.46543	22.3	0.92659818118737036	0.22139	0.54319	0.29587	D	AEFDGBI	0.118856	0.23223	N	-0.429158798107677	0.24452	1.320383	-0.260328611356944	0.29418	1.647945	0.969187287996826	0.29109	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	1.432000	0.34545	6.706000	0.56386	-0.106000	0.15538	0.421000	0.26338	1.000000	0.68203	0.994000	0.71098	0.0688:0.1785:0.6379:0.1149	6.898	0.23448	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	929.33	34	chr15	65118763	.	G	A	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.751;DP=725;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=2.08;SOR=0.844	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	65205386	65205386	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon5:c.G505A:p.G169R	.	.	.	.	.	.	.	.	.	.	.	2470085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.800	0.082187205235	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs764337893	4.036e-05	4.036e-05	2.859e-05	5.225e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0004	0	0	0	0	0	0	1.799e-06	0.0001	0.0006	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.07	0.35349	T	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000004	0.62929	D	0.105015	0.999999	0.58761	D	4.145	0.97549	H	-1.75	0.83495	D	-3.69	0.70432	D	0.837	0.83269	0.720	0.93421	D	0.792	0.92934	D	10	0.9195242	0.91308	D	0.082187	0.73847	D	0.800	0.93464	0.914	0.98346	0.841097536971	0.83958	0.8243153392826222	0.82389	0.604454540388	0.55382	0.59434902668	0.52107	T	0.269295	0.64148	T	0.061983	0.59861	T	0.25991	0.86087	D	0.946431994438171	0.62469	D	0.928907	0.73860	D	0.36949134	0.58547	0.356614	0.61170	0.36949134	0.58548	0.356614	0.61169	-8.969	0.67497	D	.	.	0.377	0.58239	A	.	.	4.409856	0.68213	25.2	0.99944411500199648	0.99868	0.99490	0.96665	D	AEFDBI	0.914375	0.87764	D	0.951543489205253	0.94047	12.46252	0.88667826289045	0.94965	13.19347	0.999999999981192	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	7.297000	0.78143	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	18.524	0.90915	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2834.33	34	chr15	65205386	.	C	T	2834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=887;ExcessHet=0;FS=0.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.689;SOR=0.769	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr15	65330328	65330328	C	T	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon11:c.G1823A:p.R608H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0638956482271	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1405532603	2.531e-05	2.599e-05	2.587e-05	2.476e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	2.521e-05	2.987e-05	4.475e-05	0	2.519e-05	1.873e-05	0.0003	2.338e-05	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.07	0.68238	T	0.004	0.74150	D	1.0	0.90584	D	0.964	0.71005	D	0.000051	0.53742	D	0.126644	0.999978	0.53665	D	2.91	0.84121	M	-0.22	0.66474	T	-2.3	0.51157	N	0.555	0.58031	-0.1349	0.79287	T	0.439	0.77809	T	10	0.6952081	0.72100	D	0.063896	0.69109	D	0.272	0.58758	0.367	0.37524	0.869428651524	0.86816	0.6972083331393912	0.69661	0.169117213538	0.19062	0.784066796303	0.79543	T	0.239154	0.60721	T	0.107901	0.65133	D	-0.0827835	0.64700	T	0.914657652378082	0.57138	D	0.89771	0.64209	D	0.09789443	0.23082	0.081019856	0.18378	0.09789443	0.23082	0.081019856	0.18377	-8.342	0.63377	D	.	.	0.182	0.39511	B	.;.	.;.	5.196013	0.87160	29.1	0.99925205770110082	0.99042	0.97968	0.78509	D	AEFDGBCI	0.930682	0.91834	D	0.565542919249723	0.71033	5.589853	0.4825316804223	0.66832	5.00382	0.999999999745463	0.74766	0.712529	0.81865	0	0.59043	0.45803	0	0.635938	0.45252	0	0.542086	0.14980	0	.	.	5.26	4.35	0.51454	5.812000	0.68868	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.9255:0.0:0.0745	13.593	0.61438	548	0.72362	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	996.33	34	chr15	65330328	.	C	T	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=3.1;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	18	0	1	0
chr15	65411032	65411032	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon2:c.G409A:p.V137I	.	429	1084	7	2	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0463036973932	0.0012	0.000998403	0.0012	0.0004	0.0004	0.0001	0	0.0018	0.0013	0.0006	0.001229	190	154602	rs146891762	0.0018	0.0017	0.0017	0.0018	0.0035	0.0017	0.0017	0.0023	0.0020	0.0002	0.0006	0.0026	5.058e-05	3.762e-05	0.0035	0.0021	0.0015	0.0004	0.0012	0.0012	0.0013	0.0011	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0006	0.0040	0.0002	0	0.0136	0.0020	0.0009	0.0002	0.258	0.16683	T	0.255	0.23365	T	0.067	0.23653	B	0.034	0.22546	B	0.000282	0.46274	N	0.139959	0.626104	0.30739	N	1.325	0.33218	L	-1.23	0.78860	T	0.3	0.04091	N	0.151	0.15469	-0.6982	0.60524	T	0.268	0.63950	T	10	0.005232811	0.00114	T	0.046304	0.62395	D	0.147	0.38986	.	.	0.414539908741	0.41071	0.22779327738308922	0.22694	0.0621684514235	0.06921	0.320670694113	0.13523	T	0.011509	0.10257	T	-0.513241	0.00481	T	-0.51556	0.20746	T	0.00861569397735126	0.00105	T	0.586341	0.21412	T	0.01993257	0.00535	0.03745865	0.03404	0.01993257	0.00535	0.03745865	0.03404	-3.375	0.14722	T	.	.	0.128	0.27403	B	.	.	1.133320	0.15202	11.67	0.97265750544041663	0.33112	0.24828	0.22513	N	AEFBI	0.100455	0.20198	N	-0.753864348160855	0.14528	0.724459	-0.694680912576651	0.17093	0.9073238	0.999668072718401	0.41534	0.729952	0.87565	0	0.475579	0.06741	0	0.877121	0.99996	0	0.530356	0.10902	0	.	.	4.84	1.43	0.21585	0.338000	0.19599	0.839000	0.22025	-0.852000	0.02700	0.041000	0.21027	0.996000	0.32793	0.640000	0.32422	0.0:0.5935:0.1377:0.2687	6.446	0.21075	456	0.79013	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	986.33	35	chr15	65411032	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.492;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	0	1	0
chr15	65411308	65411308	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon2:c.G133A:p.V45M	.	421	1076	24	1	0	26	0.0119376	.	.	.	2814245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	0.155798109168	0.0008	0.000599042	0.0014	9.905e-05	0.0005	0	0	0.0011	0	0.0065	0.0012419	192	154602	rs142198652	0.0010	0.0010	0.0008	0.0012	0.0124	0.0009	0.0009	0.0100	0.0091	0.0001	0.0004	0.0005	0	1.879e-05	0.0124	0.0006	0.0015	0.0062	0.0009	0.0009	0.0008	0.0010	0.0064	0.0008	0.0007	0.0046	0.0040	9.62e-05	0	0.0011	0.0009	0	0	0.0068	0.0011	0.0014	0.0064	0.017	0.51248	D	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.003418	0.34985	N	0.235166	0.995467	0.42703	D	2.46	0.71463	M	0.01	0.62459	T	-1.95	0.45222	N	0.47	0.50598	-0.2355	0.76743	T	0.394	0.74749	T	10	0.0098590255	0.00221	T	0.155798	0.83668	D	0.252	0.56159	.	.	0.597567007519	0.59436	0.7470042285063002	0.74646	0.372920381857	0.38773	0.585131764412	0.50808	T	0.025447	0.19026	T	-0.352648	0.04563	T	-0.27658	0.47154	T	0.0698721953055544	0.08633	T	0.691131	0.30052	T	0.06723215	0.14539	0.12474114	0.30063	0.06723215	0.14538	0.12474114	0.30062	-6.734	0.52066	T	.	.	0.347	0.56409	A	.	.	3.679453	0.52360	23.2	0.9982442129627378	0.90677	0.88747	0.48823	D	AEFBCI	0.674587	0.64026	D	0.285218540029296	0.55399	3.703959	0.183815149241119	0.48962	3.105141	0.999999970988296	0.74766	0.50712	0.20391	0	0.480063	0.06835	0	0.658105	0.52812	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	5.221000	0.65104	4.723000	0.44515	-0.808000	0.03092	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9188:0.0:0.0812	11.953	0.52253	456	0.79013	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.012195	0.000000	0.05263	1907.81	35	chr15	65411308	.	C	T	1907.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.89;SOR=1.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	18	1	0	0
chr15	65564320	65564320	C	T	exonic	HACD3	.	nonsynonymous SNV	HACD3:NM_016395:exon7:c.C638T:p.P213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0315688328465	.	0.000199681	0.0001	0	0	0.0001	0.0005	0	0.0011	0.0005	9.06e-05	14	154602	rs570046325	6.501e-05	6.567e-05	4.493e-05	8.529e-05	0.0008	5.43e-05	5.043e-05	0.0006	0.0006	0	8.958e-05	0	0	0.0001	0.0002	1.439e-05	1.656e-05	0.0008	6.568e-05	6.563e-05	5.141e-05	8.059e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.992e-05	2.408e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0006	0.685	0.46513	T	0.13	0.46182	T	0.997	0.70673	D	0.837	0.59984	P	0.000370	0.45194	D	0.235877	0.999999	0.58761	D	2.36	0.67893	M	1.41	0.33412	T	-2.91	0.62343	D	0.613	0.66529	-0.8173	0.54102	T	0.177	0.52146	T	10	0.35177302	0.52020	T	0.031569	0.53618	D	0.360	0.68052	0.68	0.81788	0.388970301349	0.38507	0.5845023449730615	0.58380	0.429269928717	0.43224	0.476957798004	0.35638	T	0.233082	0.65518	T	-0.30192	0.08479	T	-0.302714	0.44438	T	0.594726264476776	0.36192	D	0.893711	0.63166	D	0.20761906	0.42973	0.21122532	0.45542	0.20761906	0.42973	0.21122532	0.45541	-8.995	0.68536	D	.	.	0.251	0.50708	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.291523	0.65449	24.8	0.98901437972843609	0.48199	0.98522	0.83679	D	AEFBI	0.762102	0.69962	D	0.505184646713301	0.67396	5.076041	0.40169549094758	0.61669	4.370462	0.999654846492656	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.252000	0.72400	4.858000	0.45442	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.029000	0.12982	0.0:0.8643:0.1357:0.0	15.742	0.77670	589	0.68969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1527.33	109	chr15	65564320	.	C	T	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=746;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.471;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	65579491	65579491	C	T	exonic	INTS14	.	nonsynonymous SNV	INTS14:NM_001207059:exon11:c.G1237A:p.G413S,INTS14:NM_001136043:exon12:c.G1237A:p.G413S,INTS14:NM_001207058:exon12:c.G1324A:p.G442S,INTS14:NM_001366360:exon12:c.G1474A:p.G492S,INTS14:NM_001366364:exon12:c.G1237A:p.G413S,INTS14:NM_001366365:exon12:c.G1237A:p.G413S	.	431	1088	3	0	0	3	0.00137678	.	.	.	4150881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00539385997063	.	.	2.472e-05	0	0	0	0	0	0.0033	0	2.59e-05	4	154602	rs770640770	3.762e-05	3.762e-05	3.947e-05	3.575e-05	0.0005	2.959e-05	2.655e-05	0.0001	7.541e-05	0	4.472e-05	0	0	1.872e-05	0.0005	3.507e-05	0.0001	3.478e-05	7.885e-05	8.537e-05	8.993e-05	6.725e-05	0.0001	4.497e-05	3.512e-05	7.908e-05	5.993e-05	0	0	0	0	0	0	0	0.0001	0.0010	0	0.209	0.23541	T	0.417	0.16182	T	0.688	0.48942	P	0.054	0.37636	B	0.000110	0.50451	N	0.208104	0.982491	0.39899	D	.	.	.	.	.	.	0.21	0.04776	N	0.144	0.21056	-1.0784	0.07661	T	0.073	0.29578	T	9	0.12087405	0.22902	T	0.005394	0.13832	T	0.050	0.13987	0.249	0.18602	0.351614576976	0.34778	.	.	0.31420449352	0.33701	0.575469911098	0.49448	T	0.012087	0.10683	T	-0.203161	0.20349	T	-0.421946	0.30852	T	0.13593102991581	0.15920	T	0.886611	0.61335	D	0.17663644	0.38586	0.096670605	0.22978	0.17663644	0.38586	0.096670605	0.22977	-2.412	0.05207	T	.	.	0.088	0.22789	B	.;.;.;.;.;.	.;.;.;.;.;.	2.025031	0.25732	16.87	0.99572970413487183	0.72501	0.90982	0.52631	D	AEFDGBHCI	0.405996	0.47866	N	-0.198664450320772	0.33191	1.880201	-0.138790132977373	0.33843	1.940208	0.999999988256585	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.44	3.55	0.39770	2.655000	0.46372	2.724000	0.34335	0.549000	0.26987	0.983000	0.35670	0.993000	0.31925	0.470000	0.28341	0.0:0.8576:0.0:0.1424	11.915	0.52045	599	0.68140	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	34	chr15	65579491	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.424;SOR=0.645	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	362.33	43	chr15	65624503	.	G	C	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.957;DP=1086;ExcessHet=0;FS=137.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.77;SOR=5.836	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	18	0	1	0
chr15	65650424	65650424	G	A	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001254740:exon4:c.G256A:p.E86K,SLC24A1:NM_001301032:exon5:c.G2221A:p.E741K,SLC24A1:NM_001301031:exon6:c.G2275A:p.E759K,SLC24A1:NM_004727:exon7:c.G2275A:p.E759K,SLC24A1:NM_001301033:exon8:c.G2221A:p.E741K	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1032093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0288990329304	0.0003	0.000599042	9.748e-05	0.0009	0	0	0	0	0	0	3.23e-05	5	154602	rs375749809	5.645e-05	5.404e-05	5.922e-05	5.361e-05	0.0020	4.607e-05	4.264e-05	0.0016	0.0015	0.0020	0.0001	0	0	0	0	3.707e-06	0.0001	1.262e-05	0.0005	0.0005	0.0006	0.0004	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.138	0.25873	T	0.76	0.21947	T	0.086	0.24919	B	0.013	0.16460	B	0.048904	0.01991	N	2.872330	1	0.08975	N	1.905	0.50856	L	0.08	0.66294	T	-0.96	0.28084	N	0.113	0.18649	-1.0174	0.24560	T	0.193	0.54652	T	10	0.00935787	0.00211	T	0.028899	0.51501	D	0.047	0.12962	.	.	0.540606920606	0.53712	0.3864187661962858	0.38556	0.254390484647	0.28010	0.251201152802	0.03896	T	0.013598	0.52061	T	-0.440363	0.01287	T	-0.429955	0.29940	T	0.018499542131433	0.00566	T	0.523548	0.17131	T	0.02829637	0.02147	0.037975453	0.03565	0.02829637	0.02146	0.037975453	0.03565	-4.085	0.25599	T	.	.	0.064	0.02200	B	.;.;.;.;.;.	.;.;.;.;.;.	1.062579	0.14442	11.02	0.99484625233434154	0.67069	0.08321	0.14265	N	AEFBCI	0.047752	0.08076	N	-0.921242196422202	0.10346	0.4939573	-0.947300371596365	0.10985	0.5568893	0.98300823784069	0.30489	0.729952	0.87565	0	0.585951	0.33947	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.74	0.768	0.17633	0.648000	0.24515	0.317000	0.17144	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.3177:0.0:0.6823:0.0	7.195	0.25026	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	34	chr15	65650424	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=729;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.365;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr15	65897956	65897956	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon21:c.C2888T:p.P963L,MEGF11:NM_001385031:exon22:c.C2873T:p.P958L,MEGF11:NM_032445:exon23:c.C3113T:p.P1038L,MEGF11:NM_001385028:exon26:c.C3401T:p.P1134L	.	431	1090	1	0	0	1	0.000458505	.	.	.	2337077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0529422063265	.	0.000199681	0.0002	0	0	0	0	4.501e-05	0.0011	0.0013	0.0001811	28	154602	rs370404367	0.0001	0.0001	8.441e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	2.988e-05	8.946e-05	0	0	1.873e-05	0.0003	1.889e-05	0.0003	0.0015	0.0001	0.0001	7.708e-05	0.0001	0.0017	7.085e-05	5.743e-05	0.0008	0.0006	0	0	6.536e-05	0	0	9.418e-05	0.0034	8.819e-05	0	0.0017	0.062	0.36912	T	0.007	0.70582	D	0.918	0.53992	P	0.223	0.44364	B	0.002357	0.36727	U	0.000000	1	0.81001	D	0.625	0.15840	N	-2.91	0.91696	D	-3.44	0.67477	D	0.191	0.32591	0.542	0.91124	D	0.709	0.89991	D	10	0.029892027	0.01115	T	0.052942	0.65273	D	0.493	0.77910	.	.	0.638638447811	0.63566	0.27459716763422415	0.27372	0.0948372849257	0.10714	0.406794726849	0.26013	T	0.146285	0.48382	T	-0.108237	0.35061	T	0.0471206	0.73395	D	0.0999747249024338	0.12354	T	0.819918	0.47811	T	0.18492691	0.39831	0.30436033	0.56465	0.18492691	0.39831	0.30436033	0.56465	-2.984	0.13404	T	.	.	0.066	0.05935	B	.;.;.;.	.;.;.;.	3.175111	0.43079	21.7	0.90239428944356315	0.19511	0.98939	0.88905	D	AEFBI	0.371984	0.45780	N	0.274875354194386	0.54879	3.652	0.274511353168426	0.54056	3.571759	0.999999999983708	0.74766	0.405899	0.06291	1	0.446627	0.06534	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	5.520000	0.66794	4.596000	0.43977	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0:0.0:1.0:0.0	19.011	0.92850	193	0.92507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	35	chr15	65897956	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=722;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.918;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1086	18	0	1	0
chr15	65912122	65912122	G	T	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385032:exon20:c.C2549A:p.T850N,MEGF11:NM_001385028:exon21:c.C2789A:p.T930N,MEGF11:NM_001385029:exon21:c.C2789A:p.T930N	.	927	592	2	1	0	4	0.003367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs534261465	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0029	0.0027	4.354e-05	0.0001	0	0	0	0.0010	0.0002	0.0004	0.0036	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.407e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0039	.	.	.	0.54	0.09760	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.254	0.28732	.	.	.	.	.	.	.	0.050501853	0.04793	T	.	.	.	.	.	.	.	0.664198360774	0.66137	.	.	.	.	.	.	.	.	.	.	-0.028787	0.47593	T	-0.279127	0.46894	T	.	.	.	0.721228	0.33447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.	.	2.090774	0.26594	17.17	0.84574064120725678	0.15371	0.94592	0.61669	D	AEFBI	.	.	.	.	.	.	.	.	.	0.806499887770322	0.24279	0.085967	0.02239	2	0.104858	0.03167	0	0.174137	0.04171	1	0.089874	0.02613	0	0.421635	0.38078	3.78	1.77	0.23848	1.890000	0.39362	5.314000	0.48272	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.6131:0.3869:0.0	12.936	0.57709	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	35	chr15	65912122	.	G	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=718;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.013;SOR=0.453	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1332	18	0	1	0
chr15	65928461	65928461	C	T	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon11:c.G1414A:p.V472I,MEGF11:NM_001385031:exon12:c.G1399A:p.V467I,MEGF11:NM_001385032:exon12:c.G1399A:p.V467I,MEGF11:NM_001385028:exon13:c.G1639A:p.V547I,MEGF11:NM_001385029:exon13:c.G1639A:p.V547I,MEGF11:NM_001385033:exon13:c.G1639A:p.V547I,MEGF11:NM_032445:exon13:c.G1639A:p.V547I	.	423	1080	19	0	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0057	0.0161741	0.0082	0.0110	0.0018	0.0005	0.0041	0.0023	0.0067	0.0405	0.0074708	1155	154602	rs137866207	0.0047	0.0048	0.0038	0.0057	0.0379	0.0046	0.0046	0.0368	0.0364	0.0104	0.0022	0.0023	0.0002	0.0042	0.0035	0.0023	0.0057	0.0379	0.0060	0.0060	0.0054	0.0067	0.0417	0.0057	0.0056	0.0370	0.0351	0.0107	0	0.0039	0.0017	0.0010	0.0042	0	0.0022	0.0024	0.0417	0.372	0.12148	T	0.459	0.16717	T	0.045	0.24734	B	0.017	0.21332	B	0.242038	0.15691	N	0.461218	0.999999	0.58761	D	1.61	0.41143	L	1.42	0.33189	T	-0.56	0.17003	N	0.233	0.29429	-1.0399	0.17343	T	0.021	0.08686	T	10	0.0032506585	0.00055	T	.	.	.	0.012	0.01476	.	.	0.132336055621	0.12781	0.10269579567288208	0.10199	0.0764374935664	0.08578	0.291206181049	0.09098	T	0.01175	0.10435	T	-0.67641	0.00050	T	-0.715116	0.05035	T	0.00637294836016821	0.00071	T	0.517348	0.18358	T	0.014421166	0.00092	0.026225425	0.00701	0.014421166	0.00092	0.026225425	0.00701	-5.082	0.37717	T	.	.	0.069	0.03849	B	.;.;.;.	.;.;.;.	0.318226	0.06928	3.473	0.92647063172426736	0.22123	0.20762	0.21159	N	AEFDHCI	0.080202	0.16213	N	-0.85728485817332	0.11871	0.5753459	-0.829400443736952	0.13783	0.7169121	0.999770147063817	0.42865	0.713056	0.82018	0	0.615948	0.52940	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	4.03	1.01	0.19044	-0.160000	0.10029	-4.029000	0.02384	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.314000	0.24830	0.0:0.6534:0.0:0.3466	8.568	0.32715	184	0.92813	Laminin EGF domain|Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006592	0.000000	0.005450	0.008772	0.000000	0.017241	0.000000	0.019231	0.07895	1938.77	35	chr15	65928461	.	C	T	1938.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.12;DP=695;ExcessHet=0;FS=0.836;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=-0.099;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1069	17	1	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1449	13	0	6	0
chr15	66332016	66332016	C	T	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon14:c.C2299T:p.P767S,DIS3L:NM_001323940:exon14:c.C1567T:p.P523S,DIS3L:NM_001323943:exon14:c.C1567T:p.P523S,DIS3L:NM_001323948:exon14:c.C2497T:p.P833S,DIS3L:NM_001143688:exon15:c.C2677T:p.P893S,DIS3L:NM_001323936:exon15:c.C2428T:p.P810S,DIS3L:NM_001323938:exon15:c.C2275T:p.P759S,DIS3L:NM_001323941:exon15:c.C2275T:p.P759S,DIS3L:NM_001323944:exon15:c.C2626T:p.P876S,DIS3L:NM_001323945:exon15:c.C2428T:p.P810S,DIS3L:NM_001323946:exon15:c.C2275T:p.P759S,DIS3L:NM_133375:exon15:c.C2428T:p.P810S,DIS3L:NM_001323939:exon16:c.C2275T:p.P759S	.	433	1088	1	0	0	1	0.000459348	.	.	.	4130290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.0148640034977	.	0.000399361	0.0004	0	8.681e-05	0	0	0	0	0.0026	0.0002911	45	154602	rs201069843	0.0001	0.0001	7.663e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.996e-05	2.258e-05	0	0	0	0.0003	1.802e-06	0.0002	0.0021	5.26e-05	5.251e-05	3.858e-05	6.727e-05	0.0017	2.559e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.053	0.39820	T	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	1.6	0.28604	T	-6.93	0.93404	D	0.893	0.90138	-0.6731	0.61688	T	0.226	0.59058	T	10	0.17953858	0.33093	T	0.014864	0.35248	T	0.482	0.77206	0.653	0.79068	0.629173233237	0.62614	0.7677940975859019	0.76728	0.661331589679	0.58920	0.76535063982	0.76728	T	0.209127	0.56926	T	-0.0772364	0.40162	T	0.110421	0.77600	D	0.365876794137634	0.27637	T	0.892111	0.62800	D	0.5387898	0.69328	0.5729114	0.75263	0.5387898	0.69330	0.5729114	0.75264	-9.67	0.73208	D	.	.	0.560	0.67199	A	.;.	.;.	4.046592	0.59952	24.2	0.99796647284262041	0.88194	0.99181	0.92424	D	AEFBI	0.911308	0.87041	D	0.747243497440229	0.82725	7.834036	0.667538972403135	0.79923	7.186107	0.999999999984739	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.794000	0.84430	7.672000	0.64834	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.372000	0.26156	0.0:1.0:0.0:0.0	18.553	0.91025	677	0.60274	.;Exosome complex exonuclease RRP44, S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2168.81	34	chr15	66332016	.	C	T	2168.81	.	AC=2;AF=0.053;AN=38;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.12;SOR=1.308	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	18	1	0	0
chr15	66565275	66565275	A	G	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon2:c.T91C:p.S31P	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00771544143806	0.0026	0.000798722	0.0020	0.0007	0.0025	0	0.0003	0.0027	0.0046	0.0013	0.0020375	315	154602	rs145934236	0.0029	0.0030	0.0031	0.0028	0.0035	0.0029	0.0028	0.0034	0.0034	0.0007	0.0019	0.0012	0	0.0005	0.0007	0.0035	0.0021	0.0009	0.0023	0.0023	0.0026	0.0020	0.0042	0.0021	0.0020	0.0034	0.0031	0.0008	0	0.0042	0.0017	0	0.0004	0	0.0034	0.0047	0.0004	0.103	0.30097	T	0.042	0.50226	D	0.981	0.59675	D	0.69	0.53781	P	0.000115	0.50451	D	0.136880	0.999298	0.81001	D	2.005	0.54552	M	1.56	0.29602	T	-2.17	0.49018	N	0.647	0.65844	-1.0649	0.10572	T	0.043	0.18701	T	10	0.021641314	0.00522	T	0.007715	0.20457	T	0.238	0.54217	.	.	0.408579541211	0.40476	0.6903491323545965	0.68974	0.636576039867	0.57434	0.515846848488	0.41042	T	0.044697	0.26894	T	-0.379344	0.03145	T	-0.315343	0.43083	T	0.0528296065991112	0.05991	T	0.553945	0.19167	T	0.2597715	0.49031	0.50393707	0.71326	0.2597715	0.49031	0.50393707	0.71326	-6.359	0.49188	T	.	.	0.087	0.11027	B	.	.	3.345498	0.46121	22.2	0.99729722507970731	0.82690	0.94718	0.62091	D	AEFGBI	0.480518	0.52220	N	-0.0580743468036519	0.39243	2.311022	-0.0439236066338345	0.37753	2.214861	0.999932691822375	0.46732	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.613276	0.41899	0	.	.	4.59	0.808	0.17861	3.128000	0.50186	2.408000	0.32627	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.993000	0.69303	0.5111:0.1671:0.0:0.3217	4.990	0.13555	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	781.33	38	chr15	66565275	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=757;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=0.937;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	66703808	66703808	A	G	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon1:c.A550G:p.K184E	Aortic valve disease 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.862172031157	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1196499540	7.793e-07	1.71e-05	1.545e-06	0	9.848e-07	0	0	.	.	0	0	0	0	0	0	9.848e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.005	0.72224	D	0.998	0.73220	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.995	0.85803	M	-1.52	0.81478	D	-2.29	0.50992	N	0.691	0.69649	0.463	0.90013	D	0.672	0.88624	D	10	0.950838	0.94420	D	0.862172	0.98942	D	0.882	0.96539	0.796	0.91657	0.864194342504	0.86288	0.6791616816669496	0.67855	2.67568409033	0.98510	0.953441858292	0.99818	D	0.879346	0.97459	D	0.242063	0.77855	D	0.10993	0.77568	D	0.976714789867401	0.71507	D	0.941906	0.78301	D	0.4950453	0.66803	0.56055945	0.74575	0.4950453	0.66803	0.56055945	0.74576	-12.838	0.88684	D	0.34145679354238523	0.43917	0.904	0.83001	P	.	.	5.019338	0.83409	28.0	0.99764960334529851	0.85417	0.95848	0.66412	D	AEFDGBHCI	0.911924	0.87185	D	0.701695515588329	0.79743	7.142646	0.598088209324848	0.74801	6.19957	0.999999999999422	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.61	3.61	0.40494	5.642000	0.67561	8.741000	0.78204	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.398	0.49095	427	0.81056	MAD homology 1, Dwarfin-type|MAD homology, MH1|MAD homology 1, Dwarfin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	296.33	35	chr15	66703808	.	A	G	296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=-0.374;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	18	0	1	0
chr15	67202874	67202874	T	C	exonic	AAGAB	.	nonsynonymous SNV	AAGAB:NM_001271885:exon10:c.A568G:p.I190V,AAGAB:NM_001271886:exon10:c.A568G:p.I190V,AAGAB:NM_024666:exon10:c.A895G:p.I299V	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant	11	1509	1	1	0	3	0.000993049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0119570458199	.	.	2.485e-05	0	0	0.0002	0	1.499e-05	0	0	1.94e-05	3	154602	rs755609670	6.088e-05	6.088e-05	5.99e-05	6.188e-05	0.0019	5.028e-05	4.672e-05	0.0016	0.0014	0	0	0	0.0019	3.744e-05	0	6.295e-06	3.312e-05	2.319e-05	6.571e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.016	0.51853	D	0.026	0.55759	D	0.984	0.60733	D	0.771	0.56890	P	0.000001	0.62929	D	0.097574	0.999846	0.49770	D	1.63	0.41750	L	0.61	0.53731	T	-0.75	0.21644	N	0.448	0.50056	-0.7495	0.57961	T	0.213	0.57428	T	10	0.33383805	0.50567	T	0.011957	0.30096	T	0.258	0.56959	0.683	0.82078	0.36355261348	0.35965	0.20296439143746822	0.20213	0.0453724689316	0.04917	0.517038106918	0.41209	T	0.008245	0.07584	T	-0.171856	0.24954	T	-0.220207	0.52718	T	0.403377522977854	0.29069	T	0.905809	0.66782	D	0.18645163	0.40054	0.12614071	0.30383	0.18645163	0.40054	0.12614071	0.30382	-7.993	0.61023	D	.	.	0.204	0.42934	B	.;.;.	.;.;.	3.656173	0.51914	23.2	0.99866843898643354	0.94457	0.95909	0.66678	D	AEFBI	0.618356	0.60419	D	0.484586234644574	0.66190	4.918142	0.459062224575262	0.65302	4.806526	0.999998481587185	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.95	3.82	0.43153	7.079000	0.76510	5.107000	0.47483	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.514	0.32396	902	0.24074	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr15	67202874	.	T	C	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.635;DP=790;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.01;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	18	0	1	0
chr15	67828064	67828064	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G2236A:p.E746K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.19355630201	.	0.000998403	0.0027	0	0	0	0	0.0004	0	0.0037	0.0004075	63	154602	rs566896623	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0029	0.0028	0	2.877e-05	0.0030	0.0018	0.0025	0.0010	2.976e-05	0.0010	0.0033	0.0004	0.0004	0.0003	0.0006	0.0029	0.0004	0.0003	0.0018	0.0014	2.406e-05	0	6.537e-05	0.0032	0.0029	0.0023	0	7.351e-05	0.0005	0.0021	0.003	0.68238	D	0.151	0.32355	T	.	.	.	.	.	.	0.932884	0.07547	N	1.031550	0.968166	0.25814	N	0.695	0.17993	N	2.5	0.72348	T	-1.95	0.45222	N	0.177	0.34336	-0.9060	0.47332	T	0.238	0.60547	T	10	0.0059768558	0.00134	T	0.193556	0.86310	D	0.110	0.31079	0.122	0.02867	0.388495093706	0.38465	0.25510035737762377	0.25424	.	.	0.895249783993	0.95896	D	0.011725	0.10420	T	-0.346847	0.04928	T	-0.270045	0.47814	T	0.0452287137011595	0.04645	T	0.849515	0.56692	T	0.29899663	0.52815	0.27582932	0.53523	0.29899663	0.52815	0.27582932	0.53522	-3.505	0.31486	T	.	.	0.269	0.50352	B	.;.;.;.	.;.;.;.	3.665544	0.52099	23.2	0.99879289833014984	0.95572	0.94085	0.60067	D	AEFDBCI	0.396733	0.47309	N	-0.0581981279892783	0.39236	2.310615	0.110242477490034	0.45071	2.776929	0.99999878982143	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.73	4.73	0.59485	1.513000	0.35430	9.710000	0.81330	0.676000	0.76740	0.132000	0.23378	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	14.585	0.67909	343	0.85802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002339	0.000000	0.000000	0.000000	0.000000	0.000000	0.006993	0.009009	0.02632	759.33	39	chr15	67828064	.	G	A	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=752;ExcessHet=0;FS=2.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.233;SOR=1.09	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,963	18	0	1	0
chr15	68197596	68197596	-	A	exonic	CALML4	.	frameshift insertion	CALML4:NM_001031733:exon3:c.66dupT:p.L23Sfs*55,CALML4:NM_001286694:exon3:c.108dupT:p.L37Sfs*55,CALML4:NM_033429:exon4:c.207dupT:p.L70Sfs*55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7e-05	.	1.659e-05	0	0	0	0	1.5e-05	0	6.091e-05	1.29e-05	2	154602	rs775548872	8.209e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	4.579e-05	3.272e-05	0	0	0	0	0	0.0002	2.698e-06	0	9.275e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1015.29	35	chr15	68197596	.	G	GA	1015.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.837;DP=710;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.18;SOR=1.001	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	18	0	1	0
chr15	68214332	68214332	G	C	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon3:c.C255G:p.F85L	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	202887	Neuronal_ceroid_lipofuscinosis|Ceroid_lipofuscinosis,_neuronal,_6A|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|not_provided	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.305962636153	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs545955828	8.209e-06	8.209e-06	5.445e-06	1.1e-05	5.038e-05	4.38e-06	3.46e-06	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	8.094e-06	1.656e-05	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.289	0.17881	T	0.209	0.43344	T	0.058	0.22967	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999365	0.81001	D	1.63	0.41750	L	-3.45	0.94469	D	-3.6	0.71519	D	0.554	0.61511	0.081	0.83822	D	0.758	0.91753	D	10	0.5620337	0.64842	D	0.305963	0.91034	D	0.634	0.85975	0.26	0.20315	0.948843343272	0.94830	0.7657886769211482	0.76527	0.3584328335	0.37553	0.774287283421	0.78067	T	0.92493	0.98684	D	0.128889	0.67253	D	0.116492	0.78001	D	0.207955035035181	0.20846	T	0.842016	0.51794	T	0.39935228	0.60687	0.28356335	0.54351	0.39935228	0.60687	0.28356335	0.54350	-6.435	0.49782	T	0.15144467655019986	0.17868	0.684	0.80343	P	.;.;.;.	.;.;.;.	3.177690	0.43117	21.7	0.99729811881943975	0.82690	0.88303	0.48170	D	AEFGBCI	0.674354	0.64010	D	0.322382158774563	0.57298	3.896733	0.276708082021953	0.54182	3.584022	0.999656181275305	0.41424	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.36	1.94	0.25058	2.205000	0.42407	2.813000	0.34919	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2244:0.0:0.7756:0.0	12.001	0.52520	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1618.33	35	chr15	68214332	.	G	C	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.396;DP=750;ExcessHet=0;FS=3.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.804;SOR=0.443	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	68311080	68311080	C	T	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon26:c.G3088A:p.A1030T	.	423	1094	5	0	0	5	0.00227998	0.0199	0.206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0002	0.00119808	0.0007	0	0.0002	0	0	0.0002	0.0018	0.0037	0.000401	62	154602	rs200822139	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	3.004e-05	2.283e-05	0	2.535e-05	0	0.0019	0.0001	0.0002	0.0038	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0027	0.0023	2.407e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0.0041	0.192	0.20988	T	0.519	0.11004	T	0.019	0.17989	B	0.049	0.25116	B	0.050812	0.23037	N	0.488014	0.932784	0.27012	N	1.495	0.37439	L	0.92	0.44461	T	-0.63	0.23808	N	0.125	0.11769	-0.9976	0.30590	T	0.065	0.26772	T	10	0.01436004	0.00302	T	0.016487	0.37771	T	0.086	0.25016	.	.	0.573614764001	0.57028	0.2286465306784358	0.22779	0.11311934576	0.12766	0.239958122373	0.02787	T	0.089813	0.38451	T	-0.626193	0.00101	T	-0.674681	0.07311	T	0.0538255324432984	0.06159	T	0.248675	0.15896	T	0.038274117	0.05067	0.06635556	0.13582	0.038274117	0.05066	0.06635556	0.13581	-3.322	0.17353	T	.	.	0.065	0.01810	B	.;.	.;.	1.581292	0.20234	14.65	0.7172195876824683	0.09726	0.86811	0.46174	D	AEFDGBI	0.518112	0.54395	D	-0.602748520277136	0.18861	0.9826417	-0.435445827639973	0.23965	1.309712	0.999999155372838	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.96	4.04	0.46262	3.422000	0.52509	3.219000	0.36843	-0.193000	0.09282	0.994000	0.38300	0.998000	0.33993	0.035000	0.13729	0.0:0.9122:0.0:0.0878	11.627	0.50412	700	0.57880	.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2282.81	42	chr15	68311080	.	C	T	2282.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.85;SOR=0.992	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	18	1	0	0
chr15	68332355	68332355	C	T	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon13:c.G1549A:p.V517I	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.025039604647	0.0016	0.00139776	0.0007	0.0041	0.0013	0	0	0.0003	0.0053	0.0002	0.0004722	73	154602	rs61729765	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0041	0.0038	0.0047	0.0007	0.0030	2.534e-05	0	0.0014	8.383e-05	0.0006	0.0004	0.0011	0.0011	0.0011	0.0011	0.0032	0.0010	0.0009	0.0028	0.0026	0.0032	0	0.0007	0.0032	0	0	0.0034	0.0001	0.0014	0.0004	0.199	0.20456	T	0.345	0.18732	T	0.006	0.13644	B	0.004	0.10090	B	0.000420	0.44736	N	0.228605	0.770981	0.34151	D	1.095	0.27400	L	-0.78	0.73631	T	-0.31	0.12099	N	0.259	0.29313	-0.7778	0.56426	T	0.172	0.51357	T	10	0.011674434	0.00254	T	0.02504	0.48022	D	0.076	0.22200	.	.	0.693959955507	0.69132	0.2665124962635741	0.26564	0.0875372861277	0.09878	0.280250459909	0.07527	T	0.186184	0.53940	T	-0.479845	0.00741	T	-0.461637	0.26420	T	0.00566322625050065	0.00062	T	0.827217	0.49094	T	0.041856855	0.06241	0.058313675	0.10755	0.041856855	0.06241	0.058313675	0.10755	-3.791	0.20999	T	.	.	0.070	0.05145	B	.;.	.;.	1.170625	0.15603	11.97	0.98615297373233535	0.43704	0.66980	0.33268	D	AEFGBI	0.252688	0.37232	N	-0.460251165219545	0.23393	1.255969	-0.339027289237741	0.26850	1.485828	0.999983858811303	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.01	3.1	0.34780	0.608000	0.23921	-0.120000	0.11732	0.599000	0.40250	0.953000	0.33222	0.000000	0.08366	0.418000	0.27184	0.0:0.8339:0.0:0.1661	10.218	0.42359	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.008772	0.000000	0.008621	0.003049	0.003788	0.02632	1279.33	48	chr15	68332355	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=885;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.917;SOR=0.674	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1253.33	36	chr15	69417444	.	A	G	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.064;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.687;SOR=0.673	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1267,0,1010	18	0	1	0
chr15	70671053	70671053	T	C	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon15:c.A1168G:p.M390V,UACA:NM_018003:exon15:c.A1207G:p.M403V	.	604	904	14	0	0	14	0.00768386	.	.	.	3216820	UACA-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.044	.	0.0028	0.00379393	0.0060	0.0006	0.0039	0.0002	0.0020	0.0060	0.0023	0.0163	0.0053751	831	154602	rs150049035	0.0040	0.0042	0.0035	0.0045	0.0150	0.0039	0.0039	0.0143	0.0140	0.0006	0.0038	0.0105	7.676e-05	0.0020	0.0120	0.0033	0.0052	0.0150	0.0036	0.0036	0.0035	0.0037	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0044	0.0056	0.0084	0	0.0012	0.0102	0.0045	0.0043	0.0162	0.384	0.13003	T	0.65	0.19073	T	0.0	0.02946	B	0.0	0.04355	B	0.531466	0.05260	N	1.229740	1	0.08975	N	-1.39	0.00611	N	1.51	0.32958	T	0.14	0.05405	N	0.094	0.07535	-1.0172	0.24625	T	0.028	0.11838	T	10	0.0015494525	0.00018	T	.	.	.	0.044	0.11924	.	.	0.104622674875	0.10061	0.12616904721490055	0.12542	0.0878705355583	0.09920	0.275885760784	0.06925	T	0.102601	0.41048	T	-0.620615	0.00109	T	-0.651923	0.08820	T	0.00288576810051717	0.00030	T	0.643236	0.26930	T	0.032945983	0.03418	0.056885745	0.10243	0.032945983	0.03417	0.056885745	0.10243	-3.126	0.11597	T	.	.	0.052	0.00461	B	.;.;.;.;.	.;.;.;.;.	-0.013232	0.04192	1.018	0.78284370114654056	0.12234	0.02355	0.06716	N	AEDGBCI	0.042721	0.06663	N	-1.42152071592821	0.02450	0.1082207	-1.45182744486338	0.02753	0.1272284	0.999999957479853	0.74766	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.636	0.56748	0	.	.	5.25	-7.65	0.01142	-0.483000	0.06616	0.110000	0.14769	-0.349000	0.05595	0.003000	0.16062	0.609000	0.25758	0.984000	0.60418	0.0956:0.6385:0.121:0.1448	10.212	0.42324	953	0.10115	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014617	0.000000	0.013587	0.008772	0.050000	0.034483	0.012195	0.026515	0.02632	638.33	40	chr15	70671053	.	T	C	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.408;SOR=0.669	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1257	18	0	1	0
chr15	71757974	71757974	C	T	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon9:c.C1408T:p.P470S,THSD4:NM_024817:exon14:c.C2488T:p.P830S	.	425	1095	2	0	0	2	0.000912409	.	.	.	2208569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0172480997388	.	.	2.546e-05	0	0	0	0	4.578e-05	0	0	1.94e-05	3	154602	rs769013005	1.71e-05	1.71e-05	1.361e-05	2.063e-05	0.0016	1.174e-05	9.92e-06	0.0008	0.0006	0	0	0	0	0	0.0016	1.169e-05	3.312e-05	1.159e-05	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.183	0.21718	T	0.183	0.35840	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.89	0.50145	L	0.21	0.59983	T	-2.29	0.63669	N	0.718	0.72031	-0.7917	0.55630	T	0.241	0.60964	T	9	0.69867676	0.72305	D	0.017248	0.38871	T	0.303	0.62400	.	.	0.689260827116	0.68659	0.50379126218499	0.50301	0.151937623519	0.17149	0.751294970512	0.74636	T	0.057456	0.30570	T	0.0188792	0.54231	T	-0.0802067	0.64888	T	0.47478061914444	0.31706	T	0.89481	0.63428	D	0.11635936	0.27445	0.16093315	0.37459	0.11635936	0.27445	0.16093315	0.37458	-3.365	0.14589	T	.	.	0.607	0.69173	P	.;.	.;.	4.959575	0.81993	27.7	0.998798432468465	0.95653	0.94143	0.60242	D	AEFDBHCIJ	0.918583	0.88785	D	0.560166761031035	0.70704	5.540672	0.598831655865122	0.74855	6.208774	0.999999999999999	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.746000	0.68317	7.523000	0.59793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.938	0.79522	931	0.16308	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2187.33	40	chr15	71757974	.	C	T	2187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.638;DP=929;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.05;SOR=0.729	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	18	0	1	0
chr15	71854503	71854503	T	A	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon35:c.A6220T:p.T2074S	.	427	1093	2	0	0	2	0.000914077	.	.	.	2227157	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00520093620515	.	0.000199681	6.597e-05	0	0	0	0	0.0001	0	6.074e-05	5.82e-05	9	154602	rs200455358	3.695e-05	3.694e-05	2.859e-05	4.54e-05	0.0002	2.895e-05	2.593e-05	0.0001	0.0001	0	0	0	0	1.872e-05	0.0002	2.609e-05	9.937e-05	0.0002	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.695	0.46513	T	1.0	0.01155	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	0.999333	0.21346	N	-0.885	0.01428	N	1.0	0.41392	T	0.31	0.69835	N	0.335	0.40164	-0.9818	0.34585	T	0.030	0.12979	T	9	0.051948816	0.05154	T	0.005201	0.13248	T	0.060	0.17295	0.126	0.03173	0.0675242888579	0.06100	0.42876365057233934	0.42793	0.108442563797	0.12232	0.525323390961	0.42375	T	0.007485	0.08919	T	-0.373205	0.03435	T	-0.537191	0.18574	T	0.029012182699616	0.01839	T	0.827917	0.49964	T	0.03507761	0.04059	0.044138495	0.05652	0.03507761	0.04059	0.044138495	0.05651	-5.828	0.44818	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	2.339272	0.29980	18.29	0.95807610021551481	0.27875	0.87753	0.47400	D	AEFBI	0.215742	0.34106	N	-0.676446208894382	0.16694	0.852798	-0.401322839227871	0.24958	1.369744	0.35040289675702	0.19676	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.99	3.68	0.41359	1.598000	0.36351	3.458000	0.38494	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.253:0.1465:0.6006	5.025	0.13721	916	0.20744	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2008.33	33	chr15	71854503	.	T	A	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.668;DP=761;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.061;SOR=0.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr15	72219083	72219083	A	G	exonic	PKM	.	nonsynonymous SNV	PKM:NM_001206798:exon3:c.T62C:p.I21T	.	426	1089	6	1	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.10361631935	.	0.000998403	0.0007	9.61e-05	0	0	0	0	0	0.0047	0.0005563	86	154602	rs541388000	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	0	0	6.296e-06	0.0002	0.0050	0.0001	0.0001	7.709e-05	0.0001	0.0035	7.085e-05	5.743e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.292	0.14894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999811	0.49394	D	.	.	.	-6.33	0.99658	D	0.41	0.03407	N	0.076	0.05037	-0.2939	0.75156	T	0.938	0.97968	D	8	0.004209161	0.00084	T	0.103616	0.77775	D	0.289	0.60808	0.348	0.34436	0.624460281613	0.62141	.	.	.	.	.	.	.	.	.	.	-0.0694809	0.41409	T	0.12851	0.78795	D	0.0193804238620053	0.00643	T	0.373163	0.08852	T	.	.	.	.	.	.	.	.	-1.785	0.02465	T	.	.	0.093	0.14201	B	.	.	0.299423	0.06751	3.266	0.84416646869873946	0.15279	0.11463	0.16651	N	AEFDBHCI	0.039827	0.05838	N	-1.3400517383075	0.03229	0.1438831	-1.46183271978138	0.02665	0.1229704	0.999999999869987	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.22	-10.4	0.00257	-1.798000	0.01843	-1.023000	0.06573	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.1017:0.1756:0.7227:0.0	16.375	0.83217	206	0.91974	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2695.33	33	chr15	72219083	.	A	G	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=814;ExcessHet=0;FS=1.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.353;SOR=0.619	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr15	72474694	72474696	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.55_57del:p.E20del	.	4	1509	8	1	0	10	0.00330251	.	.	.	1564042	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0018	0.0002	0.0004	0	0	8.771e-05	0.0020	0.0094	0.0003842	10	26028	rs534030629	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0067	0.0065	3.342e-05	0.0001	0	5.758e-05	1.916e-05	0.0005	4.119e-05	0.0004	0.0071	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	6.564e-05	0	0	0	0	4.426e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002030	0.000000	0.001359	0.002994	0.000000	0.008621	0.000000	0.003817	0.02632	1771.29	41	chr15	72474693	.	TGAG	T	1771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.295;DP=757;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-0.45;SOR=0.548	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	18	0	1	0
chr15	72661787	72661787	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon10:c.G788A:p.R263H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00278888979744	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311522620	0.0012	0.0011	0.0010	0.0015	0.0070	0.0011	0.0011	0.0040	0.0031	0.0004	0.0006	0.0072	3.603e-05	0.0009	0.0070	0.0008	0.0016	0.0031	0.0008	0.0008	0.0008	0.0009	0.0030	0.0005	0.0004	0.0005	0.0002	0	0	0	0.0121	0	0	0	0.0006	0.0106	0.0030	0.773	0.03354	T	1.0	0.01155	T	0.971	0.57185	D	0.341	0.42432	B	.	.	.	.	1	0.08975	N	0.35	0.11930	N	2.04	0.20808	T	1.44	0.00794	N	0.058	0.02964	-1.0341	0.19141	T	0.023	0.09878	T	8	0.050512522	0.04795	T	0.002789	0.05810	T	0.055	0.15663	0.293	0.25560	0.0297737177859	0.01360	0.09294919455009659	0.09226	.	.	0.717276453972	0.69650	T	6.21E-4	0.00264	T	-0.374818	0.03357	T	-0.776176	0.02571	T	0.0173157258232005	0.00471	T	0.246475	0.03619	T	0.0456387	0.07505	0.05900042	0.10998	0.0456387	0.07504	0.05900042	0.10998	-5.758	0.44207	T	.	.	0.074	0.05060	B	.	.	0.168672	0.05582	2.036	0.28646653546980633	0.01481	0.00212	0.01206	N	AEFI	0.023969	0.01412	N	-1.02293731256202	0.08129	0.3800966	-1.24470347574051	0.05210	0.2476968	7.26834690193388E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	0.056000	0.14136	-0.681000	0.07886	-0.664000	0.04342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	61.6	1	chr15	72661787	.	G	A	61.6	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.967;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=-0.1496;MLEAC=2;MLEAF=0.077;MQ=40;MQRankSum=0;QD=20.53;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,13	12	0	1	6
chr15	72731341	72731341	G	A	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon10:c.G232A:p.G78R,BBS4:NM_001320665:exon10:c.G679A:p.G227R,BBS4:NM_033028:exon11:c.G748A:p.G250R	Bardet-Biedl syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	255352	Bardet-Biedl_syndrome|not_specified	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.636	.	0.0056	0.00698882	0.0015	0.0166	0.0002	0	0	2.997e-05	0	0	0.0014359	222	154602	rs34620165	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0143	0.0138	0.0154	0.0005	0	0	0	0.0005	1.259e-05	0.0007	0	0.0042	0.0042	0.0043	0.0041	0.0149	0.0039	0.0038	0.0139	0.0135	0.0149	0	0.0010	0	0	0	0	0	0.0028	0	0.104	0.29959	T	0.349	0.21678	T	0.915	0.50599	P	0.425	0.45259	B	0.000001	0.84330	N	0.097048	1	0.81001	D	1.985	0.53793	M	-1.44	0.80815	T	-4.76	0.80340	D	0.733	0.73375	-0.3468	0.73646	T	0.246	0.61530	T	10	0.010049701	0.00225	T	.	.	.	0.636	0.86078	0.513	0.61153	0.827366211817	0.82573	0.7786084634078688	0.77811	0.0139038463021	0.01327	0.849743485451	0.89575	D	0.725652	0.92281	D	-0.0901412	0.38052	T	0.110066	0.77577	D	0.0925360792795187	0.11514	T	0.909609	0.68156	D	0.57492465	0.71331	0.39496568	0.64177	0.6802458	0.76984	0.36824918	0.62117	-12.148	0.88072	D	0.29881002842184384	0.39602	0.304	0.59683	B	.;.;.	.;.;.	4.258012	0.64686	24.7	0.99660618421929159	0.77883	0.98113	0.79708	D	AEFDBIJ	0.895237	0.83504	D	0.480637088947015	0.65961	4.888743	0.507849973724159	0.68519	5.231067	0.999999939427599	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.94	0.64645	7.977000	0.87680	8.714000	0.78144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0689:0.0:0.9311:0.0	14.757	0.69192	413	0.81939	.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1397.33	33	chr15	72731341	.	G	A	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=729;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.587;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	18	0	1	0
chr15	72783669	72783669	G	A	exonic	ADPGK	.	nonsynonymous SNV	ADPGK:NM_001365225:exon1:c.C23T:p.A8V,ADPGK:NM_001365227:exon1:c.C23T:p.A8V,ADPGK:NM_001365228:exon1:c.C23T:p.A8V,ADPGK:NM_031284:exon1:c.C23T:p.A8V	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0252270363878	0.0036	0.000798722	0.0022	0	0	0	.	0.0071	0	0.0008	0.0014424	223	154602	rs199948684	0.0059	0.0056	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0009	0.0018	0.0043	0	0.0020	0.0002	0.0070	0.0041	0.0005	0.0037	0.0037	0.0043	0.0031	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0.0110	0.0011	0.0049	0	0.0012	0	0.0065	0.0019	0.0006	0.512	0.07449	T	1.0	0.01155	T	0.009	0.15093	B	0.002	0.06944	B	0.001834	0.37892	N	0.276195	0.999808	0.20292	N	0.205	0.09354	N	0.95	0.43279	T	0.06	0.06253	N	0.188	0.20528	-1.0445	0.15971	T	0.040	0.17319	T	10	0.006830424	0.00155	T	0.025227	0.48206	D	0.218	0.51265	.	.	0.384419519794	0.38055	0.5991861924557701	0.59849	0.239721478437	0.26521	0.847263753414	0.89201	D	.	.	.	-0.419686	0.01718	T	-0.370218	0.36864	T	0.0294382394093694	0.01904	T	0.716128	0.32863	T	.	.	.	.	.	.	.	.	-3.763	0.20253	T	.	.	0.091	0.13268	B	.	.	2.424244	0.31176	18.66	0.99773075631985175	0.86088	0.08133	0.14099	N	ALL	0.104954	0.20984	N	-0.533977315725385	0.20989	1.11058	-0.348387948235419	0.26559	1.467783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.56	4.56	0.55644	1.550000	0.35830	2.958000	0.35743	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.2393:0.0:0.7607:0.0	5.805	0.17697	395	0.83006	.	BBS4|ADPGK|ADPGK-AS1	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Testis	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001689	0.000000	0.000000	0.003125	0.000000	0.000000	0.006757	0.000000	0.02632	554.33	35	chr15	72783669	.	G	A	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=2.12;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1102	18	0	1	0
chr15	73282980	73282980	T	G	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.T3246G:p.H1082Q,NEO1:NM_001172623:exon23:c.T3279G:p.H1093Q,NEO1:NM_002499:exon23:c.T3279G:p.H1093Q	.	427	1086	8	1	0	10	0.00458295	.	.	.	3202988	NEO1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.257	0.0195022520785	.	0.000798722	0.0006	9.61e-05	0	0	0	0	0	0.0045	0.0005239	81	154602	rs551596506	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	0	0	0	0	0.0003	3.597e-06	0.0003	0.0046	7.877e-05	7.873e-05	5.139e-05	0.0001	0.0023	4.493e-05	3.509e-05	0.0013	0.0010	2.405e-05	0	0	0	0	0	0	0	0	0.0023	0.125	0.30515	T	0.194	0.28210	T	0.104	0.25941	B	0.024	0.20255	B	0.000006	0.62929	D	0.142321	0.999763	0.48888	D	1.35	0.33515	L	0.52	0.57261	T	-2.6	0.58407	D	0.282	0.39052	-0.9119	0.46620	T	0.080	0.31556	T	10	0.010475069	0.00233	T	0.019502	0.41878	T	0.257	0.56827	0.534	0.64293	0.758761614181	0.75657	0.2128189436994116	0.21197	0.187157546737	0.21028	0.555302023888	0.46605	T	0.20713	0.56668	T	-0.313197	0.07469	T	-0.222258	0.52520	T	0.0662627806715302	0.08116	T	0.835216	0.50504	T	0.14993353	0.34157	0.18675515	0.41868	0.14993353	0.34157	0.18675515	0.41867	-3.253	0.13776	T	.	.	0.162	0.36315	B	.;.;.;.;.	.;.;.;.;.	0.372451	0.07448	4.081	0.88338966397064411	0.17899	0.10102	0.15700	N	AEFBHCI	0.084205	0.17064	N	-1.34825302006541	0.03143	0.1399291	-1.42250225168036	0.03028	0.1404736	0.999998326787571	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.3	-8.66	0.00751	-1.537000	0.02310	-8.246000	0.01002	-0.757000	0.03535	0.003000	0.16062	0.000000	0.08366	0.614000	0.31742	0.0:0.2083:0.0:0.7917	15.610	0.76455	681	0.59854	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1997.33	33	chr15	73282980	.	T	G	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.661;DP=795;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.956;SOR=0.841	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr15	73283089	73283089	C	T	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.C3355T:p.R1119C,NEO1:NM_001172623:exon23:c.C3388T:p.R1130C,NEO1:NM_002499:exon23:c.C3388T:p.R1130C	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	.	0.0012	0.0117812	0.0058	0.0008	0.0027	0.0425	0.0080	0.0029	0.0099	0.0022	0.0054527	843	154602	rs118087147	0.0038	0.0038	0.0038	0.0038	0.0447	0.0037	0.0037	0.0430	0.0423	0.0007	0.0036	0.0058	0.0447	0.0084	0.0172	0.0020	0.0074	0.0027	0.0048	0.0048	0.0043	0.0052	0.0492	0.0045	0.0044	0.0443	0.0424	0.0013	0	0.0057	0.0046	0.0492	0.0109	0.0136	0.0025	0.0071	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.1	0.63077	T	-5.73	0.89334	D	0.783	0.83781	-0.6548	0.62504	T	0.093	0.35283	T	10	0.007161528	0.00163	T	.	.	.	0.495	0.78036	.	.	0.589392501938	0.58614	0.5518740546356979	0.55113	0.865989731613	0.69205	0.706761300564	0.68123	T	0.760	0.93477	D	-0.037222	0.46360	T	0.205173	0.83407	D	0.0469657027440284	0.04958	T	0.990763	0.97171	D	0.71883744	0.79097	0.53594667	0.73184	0.71883744	0.79098	0.53594667	0.73185	-11.548	0.83197	D	.	.	0.478	0.69452	A	.;.;.;.;.	.;.;.;.;.	4.829910	0.78746	27.0	0.99942508714113965	0.99824	0.94842	0.62518	D	AEFBHCI	0.934120	0.92702	D	0.742588192925991	0.82422	7.758413	0.73252353166188	0.84845	8.407764	0.999999999999965	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	7.304000	0.78201	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.333	0.94287	680	0.59965	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.023392	0.000000	0.008621	0.012195	0.011364	0.05263	2570.83	33	chr15	73283089	.	C	T	2570.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.477;DP=801;ExcessHet=0.119;FS=9.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.976;SOR=0.311	GT:AD:DP:GQ:PL	0/1:45,37:82:99:858,0,1034	17	0	2	0
chr15	73323118	73323118	C	A	exonic	HCN4	.	nonsynonymous SNV	HCN4:NM_005477:exon8:c.G2975T:p.S992I	Brugada syndrome 8;Sick sinus syndrome 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	1924995	Brugada_syndrome_8	MONDO:MONDO:0013148,MedGen:C2751083,OMIM:613123,Orphanet:130	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.873803936335	.	.	6.508e-05	0	0	0	0	8.315e-05	0	0.0001	2.59e-05	4	154602	rs754083717	1.179e-05	1.505e-05	1.239e-05	1.118e-05	2.405e-05	7.18e-06	5.87e-06	7.36e-06	5.76e-06	0	0	0	0	0	0	1.268e-05	1.685e-05	2.405e-05	6.578e-06	6.566e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.077	0.34095	T	0.061	0.45530	T	0.139	0.27501	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-4.4	0.97419	D	-0.63	0.18459	N	0.249	0.28146	0.173	0.85449	D	0.770	0.92178	D	9	0.27109748	0.44645	T	0.873804	0.99036	D	0.270	0.58507	0.235	0.16457	0.754999209091	0.75278	0.5895137345825351	0.58881	0.207488726263	0.23208	0.88447368145	0.94555	D	0.317682	0.68911	T	-0.0510065	0.44293	T	-0.183265	0.56219	T	0.0235589902848631	0.01091	T	0.488651	0.14976	T	0.068982296	0.15076	0.08415965	0.19340	0.068982296	0.15076	0.08415965	0.19340	-6.398	0.49494	T	.	.	0.124	0.25946	B	.	.	0.702727	0.10717	7.407	0.82049608235218319	0.13993	0.12569	0.17348	N	AEFDBI	0.294580	0.40491	N	-0.731731627281177	0.15133	0.7600548	-0.75593977233045	0.15577	0.8199047	0.984973367323464	0.30805	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.76	2.76	0.31527	0.294000	0.18803	1.484000	0.26842	-0.254000	0.07082	0.000000	0.06391	0.066000	0.22130	0.004000	0.06068	0.0:1.0:0.0:0.0	11.750	0.51111	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3335.33	48	chr15	73323118	.	C	A	3335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.304;DP=1722;ExcessHet=0;FS=1.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.042;SOR=0.817	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr15	73994862	73994862	G	C	exonic	PML	.	nonsynonymous SNV	PML:NM_002675:exon1:c.G50C:p.R17P,PML:NM_033238:exon1:c.G50C:p.R17P,PML:NM_033239:exon1:c.G50C:p.R17P,PML:NM_033240:exon1:c.G50C:p.R17P,PML:NM_033244:exon1:c.G50C:p.R17P,PML:NM_033246:exon1:c.G50C:p.R17P,PML:NM_033247:exon1:c.G50C:p.R17P,PML:NM_033249:exon1:c.G50C:p.R17P,PML:NM_033250:exon1:c.G50C:p.R17P	Leukemia, acute promyelocytic, PML/RARA type (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00428578490907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.165e-05	0.0002	1.324e-05	1.004e-05	1.308e-05	6.76e-06	5.29e-06	6.97e-06	5.51e-06	0	0	0	0	5.359e-05	0	1.308e-05	0	0	0	2.001e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.152	0.24564	T	0.306	0.31326	T	0.001	0.07471	B	0.001	0.06944	B	0.012886	0.01348	N	2.625390	1	0.08975	N	0	0.06538	N	0.95	0.43672	T	-0.3	0.11913	N	0.11	0.12627	-1.0586	0.12108	T	0.033	0.14377	T	10	0.03748083	0.02105	T	0.004286	0.10373	T	0.026	0.05648	0.268	0.21576	0.218628672733	0.21463	0.1633260524037988	0.16252	1.19061195492	0.80273	0.467194288969	0.34295	T	0.291766	0.66451	T	-0.316662	0.07175	T	-0.692639	0.06237	T	0.105502487800016	0.12951	T	0.705929	0.31637	T	0.09975149	0.23545	0.10326324	0.24771	0.09975149	0.23545	0.10326324	0.24770	-2.066	0.03441	T	.	.	0.073	0.09239	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.006708	0.04328	1.099	0.52933182279529822	0.04842	0.43148	0.27034	N	ALL	0.071879	0.14325	N	-2.16458250169479	0.00092	0.00393349	-2.19851327911447	0.00113	0.004960706	0.999999999999905	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	-7.45	0.01229	-1.040000	0.03657	-1.377000	0.05583	-2.387000	0.00298	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.3296:0.2503:0.1902	1.229	0.01821	753	0.51500	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.33	33	chr15	73994862	.	G	C	62.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.59;DP=768;ExcessHet=0;FS=117.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-2.566;SOR=6.356	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	18	0	1	0
chr15	74072258	74072258	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1553T:p.T518M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00168270126752	.	.	0.0017	0.0035	0.0092	0.0051	0	0.0001	0.0023	0.0010	3.84e-05	1	26028	rs752731361	0.0004	0.0018	0.0004	0.0003	0.0071	0.0004	0.0003	0.0064	0.0062	0.0011	0.0048	0	0.0071	0	0.0002	1.349e-05	0.0004	0.0002	0.0012	0.0046	0.0011	0.0013	0.0079	0.0011	0.0010	0.0067	0.0063	0.0011	0	0.0079	0	0.0020	0	0	4.447e-05	0.0039	0.0006	0.296	0.14694	T	1.0	0.01155	T	0.021	0.18474	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-2.455	0.00064	N	1.97	0.22067	T	1.57	0.00677	N	0.11	0.09631	-0.9724	0.36691	T	0.009	0.03011	T	9	0.006852895	0.00156	T	0.001683	0.02779	T	0.027	0.05988	0.237	0.16760	0.0138822411134	0.00435	0.11663055396492457	0.11591	1.78550268228	0.91441	0.489605456591	0.37384	T	0.001307	0.00783	T	-0.685273	0.00045	T	-0.763908	0.02974	T	0.0176164157190372	0.00494	T	0.20168	0.02313	T	0.011767109	0.00022	0.02677526	0.00785	0.011767109	0.00022	0.02677526	0.00785	-5.114	0.38054	T	.	.	0.062	0.01252	B	.	.	-0.236041	0.02913	0.421	0.42590425614762761	0.03150	0.00655	0.02844	N	AEFI	0.040268	0.05965	N	-1.89900826124446	0.00345	0.01481682	-1.89515600191197	0.00501	0.02217462	7.61041393411946E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.08	0.05022	0.934000	0.28510	-0.586000	0.08350	-0.970000	0.01946	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.197:0.1651:0.3986:0.2393	1.000	0.01384	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	219.33	59	chr15	74072258	.	G	A	219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=1064;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.29;MQRankSum=-2.461;QD=2.74;ReadPosRankSum=1.05;SOR=0.655	GT:AD:DP:GQ:PL	0/0:72,8:80:42:0,42,1948	18	0	1	0
chr15	74072740	74072740	A	T	splicing	GOLGA6A	NM_001038640:exon13:c.1501+2T>A	.	.	.	368	1152	2	0	0	2	0.000867303	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	3.099e-05	0.0011	0.0050	3.84e-05	1	26028	rs755633335	0.0001	0.0004	6.132e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0007	8.094e-06	0.0002	0.0022	8.596e-05	0.0002	3.883e-05	0.0001	0.0025	4.987e-05	3.986e-05	0.0014	0.0011	0	0	0	0	0	0	0	1.47e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.257468	0.13198	T	-0.607612	0.12179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.845209	0.55667	23.6	0.88380525631847129	0.17932	0.39964	0.26331	N	AEFI	.	.	.	0.373527919460758	0.59991	4.18348	0.0298595575305894	0.41109	2.464243	2.4053704782628E-4	0.06095	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.200103	0.30461	1.55	1.55	0.22356	2.835000	0.47876	6.957000	0.57044	0.276000	0.18584	0.981000	0.35396	1.000000	0.68203	0.153000	0.20410	1.0:0.0:0.0:0.0	5.253	0.14845	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	513.33	40	chr15	74072740	.	A	T	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=923;ExcessHet=0;FS=1.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.69;MQRankSum=-0.536;QD=3.47;ReadPosRankSum=-0.124;SOR=0.879	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	18	0	1	0
chr15	74176014	74176014	G	A	exonic	ISLR	.	nonsynonymous SNV	ISLR:NM_005545:exon2:c.G1156A:p.V386I,ISLR:NM_201526:exon2:c.G1156A:p.V386I	.	394	1121	7	0	0	7	0.00311249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0142659276586	0.0026	0.000998403	0.0018	0.0004	0.0011	0	0	0.0022	0.0057	0.0030	0.0017141	265	154602	rs140714071	0.0023	0.0023	0.0022	0.0023	0.0036	0.0022	0.0022	0.0024	0.0021	0.0004	0.0011	0.0111	0	0	0.0036	0.0022	0.0038	0.0024	0.0016	0.0016	0.0017	0.0015	0.0022	0.0015	0.0014	0.0020	0.0018	0.0005	0	0.0008	0.0130	0	0	0.0102	0.0022	0.0033	0.0021	0.017	0.51248	D	0.212	0.26549	T	0.982	0.60036	D	0.628	0.51677	P	0.001402	0.39109	U	0.000000	0.975628	0.25423	N	1.04	0.26193	L	-0.13	0.64818	T	-0.53	0.16393	N	0.098	0.08366	-0.9223	0.45238	T	0.171	0.51293	T	10	0.006759137	0.00153	T	0.014266	0.34274	T	0.130	0.35528	.	.	0.0666544352282	0.05500	0.24689302740300903	0.24603	0.944440780139	0.72360	0.607033014297	0.53897	T	0.073616	0.34742	T	-0.438384	0.01322	T	-0.408032	0.32452	T	0.0392663077118959	0.03557	T	0.615039	0.23503	T	0.075713314	0.17075	0.10304492	0.24713	0.075713314	0.17074	0.10304492	0.24712	-3.699	0.19304	T	.	.	0.150	0.33823	B	.;.	.;.	4.050696	0.60035	24.2	0.9973002738558393	0.82690	0.80369	0.40025	D	AEFDGBCI	0.324566	0.42642	N	0.0654408850707338	0.44856	2.752121	0.116972982548871	0.45417	2.805202	0.999999990796075	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	2.556000	0.45524	7.530000	0.59902	0.618000	0.50648	0.996000	0.39380	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	15.344	0.74036	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1464.33	99	chr15	74176014	.	G	A	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.325;DP=907;ExcessHet=0;FS=7.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.221;SOR=1.294	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	74182421	74182421	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon15:c.C1340T:p.T447M,STRA6:NM_001142618:exon15:c.C1340T:p.T447M,STRA6:NM_001142619:exon15:c.C1313T:p.T438M,STRA6:NM_001199040:exon15:c.C1451T:p.T484M,STRA6:NM_001199041:exon15:c.C1385T:p.T462M,STRA6:NM_001199042:exon15:c.C1457T:p.T486M,STRA6:NM_022369:exon15:c.C1340T:p.T447M	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.036407621083	.	0.000199681	2.152e-05	0.0001	0	0.0002	0	0	0	0	2.59e-05	4	154602	rs531103181	8.906e-06	9.577e-06	9.54e-06	8.265e-06	2.523e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	2.523e-05	0	0	9e-06	1.658e-05	1.165e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0	0.193	0.20912	T	0.142	0.35840	T	0.004	0.12183	B	0.002	0.06944	B	0.492092	0.12045	N	0.781238	1	0.08975	N	0.56	0.15190	N	-1.41	0.80560	T	0.39	0.03521	N	0.095	0.08366	-0.8206	0.53896	T	0.321	0.69039	T	10	0.04736048	0.04044	T	0.036408	0.56971	D	0.160	0.41473	0.352	0.35084	0.421060224861	0.41726	0.36956894155801573	0.36870	0.0960964602425	0.10848	0.23411642015	0.02286	T	0.070711	0.34028	T	-0.225344	0.17271	T	-0.378076	0.35947	T	0.028527932241559	0.01766	T	0.743426	0.36288	T	0.014340292	0.00089	0.04947254	0.07568	0.014340292	0.00089	0.04947254	0.07567	-2.741	0.08896	T	.	.	0.066	0.03736	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.039162	0.14197	10.77	0.91539751557054494	0.20817	0.00359	0.01841	N	AEFGBI	0.023560	0.01330	N	-1.01886409154738	0.08213	0.3842612	-1.03700072270711	0.08979	0.444286	0.99743414743059	0.35614	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.91	-1.06	0.09491	0.268000	0.18336	0.065000	0.14184	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.865000	0.41091	0.6183:0.0:0.3817:0.0	10.714	0.45199	813	0.42397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	830.33	34	chr15	74182421	.	G	A	830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.45;DP=706;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.71;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	18	0	1	0
chr15	74591643	74591643	C	G	exonic	ARID3B	.	nonsynonymous SNV	ARID3B:NM_001307939:exon7:c.C1249G:p.R417G,ARID3B:NM_006465:exon7:c.C1249G:p.R417G	.	0	225	0	1	0	2	0.00442478	.	.	.	3290016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0278571001264	0.0002	.	7.519e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs372219475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.02e-05	0	0	0	1.903e-05	0.0002	0.0002	6.678e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	9.735e-05	8.25e-05	0.0001	0.0001	7.215e-05	0	0.0001	0	0	9.409e-05	0	0.0002	0	0.0002	0.002	0.72154	D	0.01	0.65728	D	0.998	0.73220	D	0.937	0.67262	D	0.000039	0.55875	D	0.122020	0.999962	0.52935	D	2.585	0.75554	M	0.74	0.50459	T	-2.91	0.60982	D	0.388	0.47487	-0.7263	0.59150	T	0.241	0.60941	T	10	0.3166809	0.49086	T	0.027857	0.50616	D	0.200	0.48430	.	.	0.198222871337	0.19423	0.4541212203020412	0.45330	1.5901386893	0.88511	0.46387130022	0.33841	T	0.553753	0.84937	D	-0.226982	0.17050	T	-0.245747	0.50236	T	0.336110614538086	0.26469	T	0.861114	0.55479	D	0.28688502	0.51702	0.17893524	0.40595	0.28688502	0.51702	0.17893524	0.40594	-4.077	0.24950	T	.	.	0.121	0.28607	B	.;.	.;.	2.656418	0.34597	19.67	0.99188431839275792	0.54906	0.67230	0.33358	D	AEFBI	0.418786	0.48628	N	0.12988029316729	0.47860	3.005939	-0.0199631190122659	0.38815	2.292224	0.999999992629532	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.31	5.31	0.75063	0.381000	0.20348	2.598000	0.33506	0.599000	0.40250	0.000000	0.06391	0.992000	0.31684	0.027000	0.12703	0.1917:0.8083:0.0:0.0	13.803	0.62707	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	839.33	36	chr15	74591643	.	C	G	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=728;ExcessHet=0;FS=5.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.95;MQRankSum=0.228;QD=12.91;ReadPosRankSum=0.138;SOR=1.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr15	74720710	74720710	C	T	exonic	CYP1A1	.	nonsynonymous SNV	CYP1A1:NM_001319216:exon6:c.G1231A:p.D411N,CYP1A1:NM_000499:exon7:c.G1318A:p.D440N,CYP1A1:NM_001319217:exon7:c.G1318A:p.D440N	.	0	1517	4	1	0	6	0.00197368	.	.	.	703333	CYP1A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.013996639748	0.0045	0.00299521	0.0040	0.0009	0.0018	0.0001	0.0056	0.0057	0.0022	0.0020	0.0041591	643	154602	rs145198866	0.0054	0.0054	0.0056	0.0052	0.0062	0.0053	0.0053	0.0061	0.0060	0.0009	0.0030	0.0023	0.0001	0.0057	0.0019	0.0062	0.0047	0.0026	0.0038	0.0038	0.0038	0.0039	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0035	0.0046	0.0002	0.0042	0	0.0059	0.0024	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000003	0.62929	N	0.133396	0.993836	0.23639	N	-0.62	0.02180	N	-0.3	0.67874	T	2.41	0.00258	N	0.07	0.12198	-0.9967	0.30838	T	0.067	0.27708	T	10	0.006428659	0.00146	T	0.013997	0.33816	T	0.195	0.47612	.	.	0.532890898078	0.52938	0.43171457669230934	0.43088	0.030042904158	0.03099	0.289598971605	0.08864	T	0.005625	0.41274	T	-0.604765	0.00136	T	-0.631091	0.10331	T	0.00220547883614682	0.00023	T	0.140786	0.01504	T	0.21424441	0.43825	0.09029288	0.21166	0.21424441	0.43825	0.09029288	0.21166	-2.855	0.08701	T	.	.	0.059	0.07697	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.577310	0.01634	0.114	0.30749592467469872	0.01698	0.04190	0.09694	N	AEFDGBIJ	0.071341	0.14199	N	-1.56102233805118	0.01471	0.06422018	-1.5075270587592	0.02286	0.1048849	0.0171064814120803	0.12912	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.61	-2.2	0.06601	1.027000	0.29721	-0.841000	0.07217	-1.754000	0.00685	0.711000	0.28732	0.000000	0.08366	0.000000	0.00833	0.0:0.2545:0.0:0.7455	11.945	0.52208	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1545.33	44	chr15	74720710	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=797;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.929;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1284	18	0	1	0
chr15	74752237	74752237	A	G	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon5:c.A1156G:p.I386V	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0125730663251	0.0005	0.000399361	0.0012	9.61e-05	8.639e-05	0	0.0038	0.0004	0.0011	0.0059	0.0010155	157	154602	rs72547516	0.0011	0.0011	0.0010	0.0012	0.0059	0.0011	0.0010	0.0055	0.0053	5.974e-05	4.473e-05	0	0	0.0027	0.0007	0.0008	0.0010	0.0059	0.0008	0.0008	0.0006	0.0009	0.0046	0.0006	0.0006	0.0031	0.0026	0.0001	0	0.0002	0	0.0002	0.0032	0	0.0007	0.0014	0.0046	0.008	0.58626	D	0.081	0.41742	T	.	.	.	.	.	.	0.000014	0.62929	N	0.149485	0.999928	0.51308	D	1.265	0.31966	L	-0.32	0.68181	T	-0.84	0.22944	N	0.448	0.48596	-0.7757	0.56542	T	0.215	0.57692	T	10	0.020976245	0.00493	T	0.012573	0.31260	T	0.197	0.47942	.	.	0.446613173091	0.44281	0.5565674297463102	0.55583	0.0591215612177	0.06565	0.532397627831	0.43372	T	0.258433	0.62959	T	-0.399947	0.02317	T	-0.344938	0.39784	T	0.0478982993270919	0.05126	T	0.814918	0.46941	T	0.5175205	0.68117	0.36680952	0.62003	0.5175205	0.68118	0.36680952	0.62003	-5.665	0.43381	T	.	.	0.160	0.35331	B	.	.	2.523236	0.32609	19.09	0.97360331200342753	0.33568	0.92866	0.56738	D	AEFGBI	0.875860	0.79951	D	-0.220546524454395	0.32291	1.819549	-0.13047314992595	0.34169	1.962449	0.999997412110401	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.89	3.76	0.42368	7.278000	0.77961	3.259000	0.37078	0.736000	0.85976	1.000000	0.71638	0.998000	0.33993	0.783000	0.37026	0.924:0.0:0.076:0.0	10.636	0.44756	343	0.85802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	985.33	35	chr15	74752237	.	A	G	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.653;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-1.45;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr15	74754820	74754820	G	T	exonic	CYP1A2	.	nonsynonymous SNV	CYP1A2:NM_000761:exon7:c.G1283T:p.R428L	.	0	1519	3	0	0	3	0.000986518	.	.	.	2203951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0240813404099	.	0.000199681	8.248e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs145557631	7.252e-05	7.251e-05	6.943e-05	7.564e-05	0.0002	6.115e-05	5.7e-05	7.51e-05	7.001e-05	0	0	0	0	0	0.0002	8.994e-05	6.623e-05	1.159e-05	6.569e-05	6.562e-05	3.857e-05	9.403e-05	0.0001	3.516e-05	2.616e-05	6.807e-05	5.089e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.377	0.11298	T	0.076	0.42614	T	.	.	.	.	.	.	0.015752	0.28162	N	0.406531	0.995186	0.23352	N	2.49	0.72568	M	-0.38	0.69027	T	-2.55	0.55181	D	0.119	0.10911	-0.8971	0.48283	T	0.231	0.59744	T	10	0.41740188	0.56634	T	0.024081	0.47063	T	0.246	0.55340	0.522	0.62518	0.760383269937	0.75820	0.6375686820015581	0.63690	0.084714943131	0.09572	0.21560190618	0.01072	T	0.617779	0.87976	D	-0.234124	0.16106	T	-0.309651	0.43697	T	0.0994252952528494	0.12294	T	0.30177	0.05696	T	0.4235668	0.62328	0.18126234	0.40979	0.4235668	0.62329	0.18126234	0.40978	-10.046	0.74187	D	.	.	0.164	0.36134	B	.	.	1.600670	0.20464	14.76	0.98274497543412531	0.39796	0.84617	0.43701	D	AEFDBIJ	0.730089	0.67759	D	-0.357024802005975	0.27015	1.478893	-0.330701284183989	0.27112	1.502208	0.985755148914546	0.30943	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.43	3.52	0.39415	0.851000	0.27403	0.662000	0.20512	-0.162000	0.11565	0.973000	0.34540	0.000000	0.08366	0.006000	0.07323	0.2522:0.0:0.7478:0.0	7.490	0.26623	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1882.33	84	chr15	74754820	.	G	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=847;ExcessHet=0;FS=5.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.16;SOR=1.09	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	18	0	1	0
chr15	74800698	74800698	A	G	exonic	CSK	.	nonsynonymous SNV	CSK:NM_004383:exon7:c.A574G:p.M192V,CSK:NM_001127190:exon8:c.A574G:p.M192V,CSK:NM_001354988:exon9:c.A574G:p.M192V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0114696907369	.	0.000199681	5.049e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs549434240	1.493e-05	1.505e-05	4.213e-06	2.591e-05	0.0002	9.59e-06	8.14e-06	0.0002	0.0001	0	0	0	0	0	0	9.234e-07	0	0.0002	1.971e-05	1.969e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.541	0.06779	T	0.507	0.10930	T	0.02	0.18235	B	0.005	0.11217	B	0.000016	0.62929	D	0.150554	0.999615	0.47849	D	1.355	0.33814	L	1.45	0.32482	T	-0.99	0.26200	N	0.274	0.31027	-1.0843	0.06535	T	0.064	0.26420	T	10	0.08572334	0.14500	T	0.01147	0.29127	T	0.062	0.17934	0.583	0.70990	0.481781477641	0.47810	0.7385305254120618	0.73798	1.23351800455	0.81410	0.484259426594	0.36643	T	0.529417	0.83688	D	-0.368379	0.03676	T	-0.472093	0.25291	T	0.068042084001466	0.08374	T	0.789321	0.42944	T	0.1903784	0.40620	0.12758897	0.30711	0.1903784	0.40620	0.12758897	0.30711	-6.041	0.46621	T	.	.	0.078	0.06710	B	.;.;.	.;.;.	2.152528	0.27418	17.46	0.92221735994899656	0.21595	0.96584	0.69873	D	AEFDGBCI	0.709162	0.66334	D	-0.20753467351114	0.32826	1.855504	-0.0645315772457339	0.36869	2.151152	0.999999992581877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.691587	0.68394	0	.	.	4.99	3.83	0.43287	1.122000	0.30909	6.812000	0.56651	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8498:0.1502:0.0:0.0	11.537	0.49894	309	0.87553	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	855.33	33	chr15	74800698	.	A	G	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.662;DP=703;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.985;SOR=0.42	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	18	0	1	0
chr15	74854109	74854109	G	A	exonic	SCAMP2	.	nonsynonymous SNV	SCAMP2:NM_001320778:exon3:c.C137T:p.A46V,SCAMP2:NM_005697:exon3:c.C137T:p.A46V	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00749920106007	7.7e-05	0.000599042	0.0002	0.0004	0.0011	0	0	0.0002	0	0	0.000304	47	154602	rs200893940	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0008	0	2.519e-05	0	0.0017	0.0001	0.0005	2.319e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0004	0.0004	0	0.0009	0	0	0	0	0.0002	0.0009	0	0.12	0.36113	T	0.274	0.29249	T	0.051	0.22415	B	0.019	0.18783	B	0.377510	0.13437	N	0.677027	0.611129	0.32622	D	1.175	0.29870	L	2.45	0.46028	T	-1.27	0.35399	N	0.516	0.54671	-1.0440	0.16118	T	0.029	0.12409	T	10	0.022176653	0.00547	T	0.007499	0.19899	T	0.034	0.08419	.	.	0.303781844768	0.29979	0.22792070076497822	0.22707	0.390989153767	0.40301	0.641013503075	0.58707	T	0.014386	0.15470	T	-0.429803	0.01486	T	-0.453538	0.27305	T	0.0251295825742676	0.01290	T	0.726327	0.36724	T	0.021729274	0.00791	0.045736734	0.06221	0.021729274	0.00791	0.045736734	0.06221	-3.664	0.18788	T	.	.	0.096	0.24532	B	.;.;.;.	.;.;.;.	3.928048	0.57397	23.9	0.96932657236900166	0.31664	0.97331	0.74077	D	AEFBHI	0.611575	0.59997	D	-0.412149132727999	0.25043	1.356534	-0.26982574107581	0.29097	1.627524	0.996973438636251	0.35164	0.706548	0.73137	0	0.697927	0.68747	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.33	3.42	0.38259	4.537000	0.60354	7.622000	0.62351	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0772:0.144:0.6297:0.1491	5.250	0.14832	275	0.89190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	99	chr15	74854109	.	G	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.144;DP=727;ExcessHet=0;FS=11.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.354;SOR=0.707	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1342	18	0	1	0
chr15	75207451	75207451	C	G	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C1403G:p.P468R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0854868061498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.994	0.82059	D	0.003941	0.34318	N	0.234553	0.986197	0.40395	D	2.015	0.55033	M	-0.05	0.63403	T	-5.83	0.88361	D	0.552	0.58031	-0.2648	0.75956	T	0.374	0.73265	T	10	0.35722768	0.52443	T	0.085487	0.74543	D	0.210	0.50028	0.174	0.08014	0.260580752073	0.25663	0.45669359445564933	0.45587	0.771540666824	0.64789	.	.	.	0.081597	0.36634	T	0.0533819	0.58778	T	-0.161097	0.58253	T	0.961752712726593	0.66171	D	0.754025	0.37774	T	0.576134	0.71397	0.5721762	0.75223	0.576134	0.71398	0.5721762	0.75223	-9.975	0.73762	D	.	.	0.233	0.50082	B	.;.;.	.;.;.	2.796594	0.36774	20.3	0.95671015317027941	0.27516	0.38934	0.26100	N	AEFBCI	0.078766	0.15899	N	0.170282885055421	0.49775	3.17425	0.0149515091653294	0.40409	2.411051	0.999999963360591	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.2	5.2	0.71720	1.102000	0.30662	7.652000	0.63756	0.580000	0.29708	0.012000	0.18695	1.000000	0.68203	0.013000	0.09966	0.1815:0.8185:0.0:0.0	11.342	0.48776	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1039.33	85	chr15	75207451	.	C	G	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1474;ExcessHet=0;FS=8.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-2.047;SOR=0.607	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr15	75208123	75208123	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.G2075A:p.R692Q	.	356	1165	1	0	0	1	0.000429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00504616176411	7.7e-05	.	4.954e-05	0	0.0002	0.0001	0	4.51e-05	0	0	7.12e-05	11	154602	rs377308521	9.304e-05	9.303e-05	0.0001	8.526e-05	0.0003	8.025e-05	7.518e-05	0.0002	0.0002	0	0.0003	0	0.0001	0	0	9.802e-05	6.623e-05	4.637e-05	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0001	2.558e-05	1.83e-05	2.261e-05	1.124e-05	4.827e-05	0	0.0001	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.753	0.04754	T	0.001	0.07471	B	0.0	0.01387	B	0.123995	0.18897	N	0.536026	0.999999	0.08975	N	-1.79	0.00298	N	1.99	0.21666	T	1.92	0.00461	N	0.034	0.01068	-0.9578	0.39589	T	0.010	0.03582	T	10	0.016175598	0.00340	T	0.005046	0.12753	T	0.015	0.02232	.	.	0.0675242888579	0.06100	0.041462835847644215	0.04091	0.249498265086	0.27528	.	.	.	3.31E-4	0.00092	T	-0.483555	0.00705	T	-0.638882	0.09751	T	0.0239178812158201	0.01134	T	0.674733	0.28305	T	0.023971623	0.01184	0.03161881	0.01777	0.023971623	0.01184	0.03161881	0.01777	-2.652	0.08276	T	.	.	0.056	0.00604	B	.;.;.	.;.;.	0.766310	0.11363	7.978	0.85262214087699995	0.15784	0.03699	0.08977	N	AEFDBHCI	0.022297	0.01096	N	-1.29814844359597	0.03698	0.1656685	-1.09765633108099	0.07746	0.3780145	0.999999535744454	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.11	2.54	0.29674	0.977000	0.29072	3.305000	0.37415	-0.162000	0.11565	0.004000	0.16614	0.949000	0.28973	0.753000	0.35893	0.7235:0.1806:0.096:0.0	5.177	0.14469	419	0.81524	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	144	chr15	75208123	.	G	A	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=851;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.514;SOR=0.807	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	18	0	1	0
chr15	75266254	75266254	A	G	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon11:c.A997G:p.K333E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0027	0	0	0	0	0	0	0.0385	3.84e-05	1	26028	rs779710882	0.0010	0.0013	0.0006	0.0015	0.0153	0.0010	0.0009	0.0144	0.0140	9.368e-05	5.155e-05	0.0003	0	0	0.0008	2.088e-05	0.0007	0.0153	0.0005	0.0007	0.0003	0.0008	0.0197	0.0004	0.0004	0.0158	0.0144	2.769e-05	0	0	0.0003	0.0005	0	0	1.781e-05	0	0.0197	0.18	0.21968	T	0.194	0.28120	T	0.927	0.51527	P	0.801	0.58220	P	.	.	.	.	0.999468	0.21151	N	1.02	0.25474	L	1.91	0.23283	T	-0.5	0.15782	N	0.061	0.03283	-1.0516	0.13954	T	0.078	0.31133	T	8	0.005700618	0.00127	T	.	.	.	0.025	0.05312	0.289	0.24921	0.0920862733494	0.08535	0.11169969736499243	0.11098	3.57629945819	0.99806	0.621172785759	0.55895	T	0.012557	0.11015	T	-0.305586	0.08143	T	-0.67673	0.07184	T	0.0415507185675066	0.03973	T	0.206779	0.02461	T	0.09566681	0.22520	0.07561902	0.16665	0.09566681	0.22520	0.07561902	0.16665	-4.998	0.36819	T	.	.	0.101	0.17530	B	.	.	1.188218	0.15795	12.11	0.77926348716508886	0.12081	0.02372	0.06748	N	AEFI	0.043568	0.06903	N	-0.644118509257516	0.17631	0.9089239	-0.954091552427924	0.10828	0.5479165	3.07875769299949E-4	0.06454	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-0.473000	0.06694	0.042000	0.13882	0.220000	0.18069	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.5079:0.4916:2.0E-4:3.0E-4	2.889	0.05322	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.64	4	chr15	75266254	.	A	G	58.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=134;ExcessHet=0;FS=0;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.026;MQ=37.13;MQRankSum=-0.32;QD=3.66;ReadPosRankSum=0.673;SOR=0.078	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,121	18	0	1	0
chr15	75268808	75268808	C	G	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1513G:p.Q505E	.	560	956	6	0	0	6	0.00312826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00347151280519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268612532	0.0007	0.0010	0.0007	0.0006	0.0051	0.0006	0.0006	0.0043	0.0040	0.0051	0.0015	0.0003	0.0002	0.0003	0.0008	0.0003	0.0013	0.0011	0.0034	0.0046	0.0033	0.0035	0.0091	0.0030	0.0029	0.0081	0.0076	0.0091	0.0080	0.0017	0	0.0003	0	0	0.0003	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.045	0.00177	N	2.29	0.17113	T	1.27	0.00985	N	0.049	0.02088	-0.9411	0.42442	T	0.008	0.02760	T	7	0.007206142	0.00164	T	0.003472	0.07847	T	0.062	0.17934	0.144	0.04746	0.0297737177859	0.01360	0.03881562989276247	0.03827	1.76277912104	0.91153	0.609768509865	0.54282	T	0.002233	0.01633	T	-0.38117	0.03064	T	-0.785301	0.02297	T	0.00660059945505272	0.00074	T	0.20228	0.02325	T	0.15009496	0.34185	0.108748525	0.26201	0.15009496	0.34185	0.108748525	0.26200	-2.742	0.07663	T	.	.	0.057	0.00524	B	.	.	-0.348413	0.02412	0.271	0.53312645524219948	0.04915	0.00790	0.03231	N	AEFI	0.047520	0.08012	N	-1.57150549477047	0.01413	0.06160532	-1.5277700342002	0.02133	0.09763306	2.1187461197363E-4	0.05997	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.454000	0.21539	-1.206000	0.06027	-0.556000	0.04876	0.990000	0.36992	0.000000	0.08366	0.001000	0.02609	.	.	.	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	93.21	20	chr15	75268808	.	C	G	93.21	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.12;DP=262;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.0522;MLEAC=1;MLEAF=0.028;MQ=24.26;MQRankSum=3.07;QD=8.47;ReadPosRankSum=0.976;SOR=1.981	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1006	17	0	1	1
chr15	75268848	75268848	C	T	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1553T:p.T518M	.	478	1041	3	0	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00205986021916	.	.	0.0015	0.0099	0	0	0	0.0012	0	0	0.000461	12	26028	rs763563111	0.0028	0.0033	0.0031	0.0026	0.0438	0.0027	0.0027	0.0417	0.0409	0.0031	0.0438	0	0.0135	0	0.0006	0.0002	0.0035	0.0015	0.0046	0.0089	0.0043	0.0050	0.0328	0.0043	0.0041	0.0295	0.0282	0.0044	0	0.0328	0	0.0070	0	0	9.875e-05	0.0106	0.0017	0.239	0.17761	T	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-3.155	0.00009	N	1.97	0.22067	T	1.57	0.00677	N	0.061	0.03283	-0.9617	0.38858	T	0.011	0.03949	T	8	0.0045684576	0.00095	T	0.00206	0.03775	T	0.021	0.04004	0.274	0.22528	0.0138822411134	0.00435	0.17643580179217894	0.17562	1.71623382196	0.90501	0.560921132565	0.47399	T	0.002424	0.01816	T	-0.305667	0.08136	T	-0.676846	0.07177	T	0.00812584191375751	0.00097	T	0.19498	0.02126	T	0.018852912	0.00409	0.044147443	0.05655	0.018852912	0.00409	0.044147443	0.05655	-5.102	0.37929	T	.	.	0.063	0.01534	B	.	.	-0.316323	0.02547	0.307	0.84185768624106028	0.15146	0.01822	0.05664	N	AEFI	0.035930	0.04705	N	-1.53391093877469	0.01631	0.07131119	-1.54397286924548	0.02018	0.09220659	0.00241385320332672	0.09408	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.626000	0.36650	-0.023000	0.12899	-0.657000	0.04367	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.999:0.0:0.001	5.818	0.17765	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	32.13	44	chr15	75268848	.	C	T	32.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.842;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.029;MQ=38.13;MQRankSum=-1.645;QD=6.43;ReadPosRankSum=-1.036;SOR=1.609	GT:AD:DP:GQ:PL	0/0:54,0:54:39:0,39,1403	16	0	1	2
chr15	75676580	75676580	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon10:c.G5939A:p.R1980H	.	431	1087	4	0	0	4	0.00183655	.	.	.	2814350	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0032	0.00339457	0.0030	0.0007	0.0020	0	0.0012	0.0047	0.0034	0.0008	0.0030336	469	154602	rs117177957	0.0041	0.0041	0.0042	0.0040	0.0048	0.0040	0.0039	0.0047	0.0046	0.0006	0.0023	0.0042	0	0.0019	0.0028	0.0048	0.0037	0.0007	0.0029	0.0029	0.0032	0.0025	0.0046	0.0027	0.0026	0.0042	0.0040	0.0008	0.0044	0.0029	0.0055	0	0.0011	0	0.0046	0.0038	0.0008	0.016	0.51853	D	0.035	0.52389	D	0.022	0.18677	B	0.005	0.11217	B	0.551924	0.05375	N	1.241220	0.999999	0.08975	N	1.56	0.39490	L	2.21	0.18414	T	-1.21	0.30762	N	0.091	0.06990	-0.9868	0.33396	T	0.035	0.14900	T	10	0.012677461	0.00272	T	.	.	.	0.030	0.07022	.	.	0.213573922156	0.20996	0.5185696753613581	0.51779	0.415312822273	0.42189	0.27164915204	0.06358	T	0.114102	0.43165	T	-0.579542	0.00194	T	-0.603744	0.12498	T	0.00837444976749577	0.00101	T	0.622538	0.23960	T	0.053181816	0.10025	0.03971262	0.04128	0.053181816	0.10024	0.03971262	0.04127	-4.746	0.33956	T	.	.	0.069	0.03162	B	.	.	1.176323	0.15667	12.02	0.97814793328887673	0.36155	0.12111	0.17066	N	AEFBI	0.100479	0.20204	N	-0.585732296204093	0.19377	1.013655	-0.57507694529719	0.20143	1.083961	0.999625706539939	0.41093	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	5.15	0.605	0.16731	-0.452000	0.06861	-1.918000	0.04498	0.585000	0.30472	0.025000	0.20085	0.000000	0.08366	0.046000	0.14843	0.0:0.4506:0.318:0.2314	7.839	0.28546	164	0.93620	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1510.33	79	chr15	75676580	.	C	T	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=835;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=1.22;SOR=0.859	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.05263	107.21	34	chr15	75689635	.	C	T	107.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=1018;ExcessHet=0.119;FS=13.909;InbreedingCoeff=-0.0654;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-8.042;QD=0.51;ReadPosRankSum=0.519;SOR=2.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:108,0:108:3:.:.:0,3,2733:.	17	0	2	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.02632	398.33	42	chr15	75690325	.	C	A	398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.2;DP=787;ExcessHet=0;FS=14.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.06;MQRankSum=-4.777;QD=4.58;ReadPosRankSum=-0.102;SOR=2.948	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr15	76203798	76203798	A	G	exonic	TMEM266	.	nonsynonymous SNV	TMEM266:NM_152335:exon11:c.A1079G:p.H360R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.112915829842	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs200903166	2.257e-05	2.257e-05	1.633e-05	2.888e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.311e-05	0.0004	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.008	0.67890	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	0.32	0.58468	T	-2.42	0.53096	N	0.923	0.92667	-0.2439	0.76524	T	0.370	0.72970	T	10	0.68475616	0.71493	D	0.112916	0.79123	D	0.392	0.70764	0.363	0.36874	0.794748413621	0.79283	0.7918707270029302	0.79139	0.879149402424	0.69706	.	.	.	0.14703	0.48491	T	-0.129466	0.31582	T	-0.10759	0.62803	T	0.375374798492947	0.28004	T	0.856214	0.54490	D	0.587353	0.72008	0.4622237	0.68776	0.587353	0.72009	0.4622237	0.68776	-4.255	0.27541	T	.	.	0.295	0.52598	B	.	.	4.022902	0.59433	24.1	0.99683370433299967	0.79440	0.96691	0.70426	D	AEFDGBCI	0.871518	0.79296	D	0.66443890054822	0.77307	6.649506	0.596286493213839	0.74671	6.177208	0.999999880094441	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	8.548000	0.90471	10.929000	0.84277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	1.0:0.0:0.0:0.0	12.457	0.55047	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1870.33	42	chr15	76203798	.	A	G	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.426;DP=963;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-1.867;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	18	0	1	0
chr15	77028588	77028588	C	T	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon7:c.C452T:p.A151V,PSTPIP1:NM_003978:exon7:c.C452T:p.A151V,PSTPIP1:NM_001321136:exon8:c.C425T:p.A142V,PSTPIP1:NM_001321137:exon8:c.C647T:p.A216V	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.08172586687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160921792	2.068e-06	6.84e-06	1.37e-06	2.775e-06	3.01e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.01e-05	0	0	0	0	0	1.806e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.203	0.30729	T	0.61	0.58077	P	0.094	0.53472	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.195	0.61839	M	0.89	0.45636	T	-2.56	0.56466	D	0.617	0.64478	-0.6654	0.62036	T	0.229	0.59396	T	10	0.35706598	0.52430	T	0.081726	0.73746	D	0.153	0.40148	0.315	0.29096	0.716668160974	0.71417	0.26308345359807245	0.26221	0.22842857525	0.25396	0.600405037403	0.52962	T	0.419575	0.77156	T	0.0264784	0.55251	T	-0.199742	0.54670	T	0.965860545635223	0.67401	D	0.965003	0.87464	D	0.35934258	0.57785	0.2394142	0.49290	0.35934258	0.57785	0.2394142	0.49289	-9.855	0.73039	D	0.2970045073017214	0.39408	0.173	0.41977	B	.;.;.;.;.;.	.;.;.;.;.;.	3.708698	0.52937	23.3	0.99478438603534414	0.66741	0.78293	0.38605	D	AEFDBCI	0.489956	0.52764	N	0.206008526519568	0.51488	3.329803	0.143047664753767	0.46775	2.918029	0.99999999998776	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.55	4.55	0.55429	4.314000	0.58957	6.002000	0.52504	0.587000	0.30956	0.997000	0.40164	0.994000	0.32194	0.180000	0.21296	0.0:1.0:0.0:0.0	16.097	0.80943	294	0.88270	F-BAR domain;F-BAR domain;F-BAR domain;.;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	34	chr15	77028588	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=713;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.17;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	18	0	1	0
chr15	77037076	77037076	A	G	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.A1094G:p.D365G,PSTPIP1:NM_003978:exon15:c.A1151G:p.D384G,PSTPIP1:NM_001321136:exon16:c.A1124G:p.D375G,PSTPIP1:NM_001321137:exon16:c.A1346G:p.D449G	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	243844	not_provided|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.512	0.197102143378	0.0003	0.000599042	0.0012	0.0001	0.0010	0	0	0.0004	0.0023	0.0061	0.001009	156	154602	rs200771233	0.0007	0.0007	0.0005	0.0009	0.0074	0.0006	0.0006	0.0069	0.0067	2.987e-05	0.0007	3.828e-05	0	3.843e-05	0.0049	0.0002	0.0008	0.0074	0.0005	0.0005	0.0003	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0002	0	0.0007	0	0	0	0	0.0003	0.0009	0.0079	0.002	0.72154	D	0.007	0.69154	D	0.947	0.53479	P	0.671	0.53151	P	0.000556	0.43413	D	0.230735	0.99997	0.58761	D	3.16	0.88528	M	-0.05	0.63403	T	-3.07	0.63554	D	0.841	0.88027	0.169	0.85387	D	0.505	0.81324	D	10	0.067043245	0.09283	T	0.197102	0.86518	D	0.512	0.79094	.	.	0.877721562804	0.87653	0.82262009739812	0.82219	0.71921379012	0.62125	0.521570205688	0.41848	T	0.393236	0.75269	T	0.0321689	0.56012	T	0.277437	0.86987	D	0.124761994766962	0.14889	T	0.891811	0.65351	D	0.3745279	0.58917	0.368516	0.62139	0.4505853	0.64078	0.4318401	0.66789	-8.872	0.66869	D	0.7812297816132029	0.86107	0.335	0.64718	B	.;.;.	.;.;.	4.447440	0.69110	25.3	0.99760944644899197	0.85091	0.92690	0.56308	D	AEFDBCI	0.635758	0.61515	D	0.571071151758307	0.71374	5.64118	0.445017314041526	0.64398	4.694024	0.999984338977367	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	4.48	4.48	0.53973	8.370000	0.90018	11.218000	0.89658	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.180000	0.21296	1.0:0.0:0.0:0.0	12.745	0.56650	295	0.88218	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3065.33	34	chr15	77037076	.	A	G	3065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.83;DP=872;ExcessHet=0;FS=5.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.175;SOR=0.465	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr15	77037132	77037132	G	C	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.G1150C:p.G384R,PSTPIP1:NM_003978:exon15:c.G1207C:p.G403R,PSTPIP1:NM_001321136:exon16:c.G1180C:p.G394R,PSTPIP1:NM_001321137:exon16:c.G1402C:p.G468R	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	0	1501	20	1	0	22	0.00727513	.	.	.	433870	not_provided|Autoinflammatory_syndrome|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.715	0.379205151611	8e-05	0.000199681	0.0003	0	0	0	0	7.981e-05	0	0.0018	0.0002199	34	154602	rs369113632	0.0002	0.0002	0.0001	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	2.239e-05	0	2.519e-05	0	0.0038	7.197e-05	0.0003	0.0018	7.225e-05	7.218e-05	5.142e-05	9.402e-05	0.0014	3.97e-05	3.126e-05	0.0007	0.0005	0	0	6.539e-05	0	0.0002	0	0.0034	1.471e-05	0	0.0014	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-0.16	0.65378	T	-3.98	0.74193	D	0.905	0.92667	0.521	0.90839	D	0.677	0.88837	D	10	0.438865	0.57971	T	0.379205	0.92931	D	0.715	0.89877	0.946	0.99325	0.92207517935	0.92128	0.803177007946961	0.80271	0.693671442879	0.60719	0.666114509106	0.62284	T	0.243553	0.61251	T	-0.0918208	0.37774	T	0.088545	0.76148	D	0.260756384061415	0.23348	T	0.950605	0.82752	D	0.5855443	0.71910	0.53273374	0.73000	0.6310291	0.74354	0.5507435	0.74024	-10.06	0.75170	D	0.5577426508343604	0.62574	0.232	0.50472	B	.;.;.	.;.;.	4.906991	0.80697	27.4	0.99921221613265843	0.98787	0.95409	0.64607	D	AEFDBCI	0.888545	0.82176	D	0.849350165810424	0.89071	9.823342	0.7756234460527	0.88054	9.43995	0.999999999991267	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	5.16	5.16	0.70563	9.209000	0.94206	11.834000	0.97615	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	17.210	0.86811	295	0.88218	SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2160.33	34	chr15	77037132	.	G	C	2160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.918;DP=854;ExcessHet=0;FS=2.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.033;SOR=0.535	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr15	77054193	77054193	A	C	exonic	TSPAN3	.	nonsynonymous SNV	TSPAN3:NM_001168412:exon3:c.T225G:p.D75E,TSPAN3:NM_198902:exon3:c.T342G:p.D114E,TSPAN3:NM_005724:exon4:c.T417G:p.D139E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.295796886391	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444556058	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.15	0.88382	M	-1.55	0.81727	D	-3.93	0.73267	D	0.964	0.98167	0.492	0.90430	D	0.716	0.90239	D	10	0.96966195	0.96530	D	0.295797	0.90718	D	0.817	0.94123	0.847	0.95025	0.714122781363	0.71161	0.9121320830592783	0.91187	1.6529612223	0.89572	0.802290201187	0.82313	T	0.595334	0.86952	D	0.321689	0.84590	D	0.321161	0.89141	D	0.978883445262909	0.72549	D	0.955304	0.82980	D	0.9173207	0.92988	0.83160406	0.90289	0.9173207	0.92989	0.83160406	0.90289	-9.639	0.75289	D	.	.	0.988	0.93824	P	.;.;.;.	.;.;.;.	3.131884	0.42320	21.5	0.994247693926815	0.63935	0.88778	0.48871	D	AEFBI	0.370674	0.45696	N	0.237147611177746	0.53007	3.471636	0.060482356991123	0.42582	2.578017	0.9990157724244	0.38212	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.07	-4.54	0.03207	0.271000	0.18390	0.241000	0.16308	0.756000	0.94297	0.985000	0.35982	0.477000	0.25082	1.000000	0.97212	0.4121:0.0:0.5879:0.0	16.659	0.85094	297	0.88113	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1025.33	33	chr15	77054193	.	A	C	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.391;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.113;SOR=0.66	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1300	18	0	1	0
chr15	77133260	77133260	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon7:c.A3822C:p.Q1274H,PEAK1:NM_001385026:exon9:c.A3822C:p.Q1274H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00526152914903	.	0.00139776	0.0006	0	8.639e-05	0	0	2.997e-05	0.0078	0.0036	0.000511	79	154602	rs539237221	0.0003	0.0003	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0	0	0	0	0.0002	2.698e-05	0.0003	0.0037	0.0002	0.0002	3.854e-05	0.0003	0.0050	0.0001	9.23e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.137	0.25979	T	0.714	0.05452	T	0.004	0.12183	B	0.003	0.08700	B	0.006223	0.32178	N	0.344999	0.61041	0.32616	D	0.895	0.22405	L	1.54	0.30133	T	1.87	0.00472	N	0.261	0.29544	-1.0339	0.19205	T	0.035	0.14987	T	10	0.0048078	0.00102	T	0.005262	0.13433	T	0.032	0.07718	0.147	0.05039	0.123314135267	0.11883	0.5463197695345773	0.54557	0.0578034647403	0.06405	0.473163068295	0.35116	T	0.01879	0.15087	T	-0.578958	0.00196	T	-0.605882	0.12321	T	0.0208961253152574	0.00790	T	0.755524	0.37862	T	0.03768131	0.04878	0.065658145	0.13339	0.03768131	0.04878	0.065658145	0.13338	-4.162	0.26199	T	.	.	0.120	0.24867	B	.;.	.;.	1.984455	0.25210	16.68	0.95250183018503232	0.26504	0.89630	0.50218	D	AEFBI	0.338030	0.43563	N	-0.518272528677323	0.21489	1.140804	-0.347920444106239	0.26574	1.468684	0.729401781658428	0.23026	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	1.83	0.24279	0.375000	0.20248	0.545000	0.19369	0.665000	0.62972	0.997000	0.40164	0.999000	0.35428	0.982000	0.59238	0.1307:0.0716:0.1365:0.6612	3.656	0.07759	367	0.84523	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2077.33	36	chr15	77133260	.	T	G	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.87;DP=833;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.038;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1299	18	0	1	0
chr15	77180995	77180995	T	C	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon5:c.A932G:p.D311G,PEAK1:NM_001385027:exon6:c.A932G:p.D311G,PEAK1:NM_001385026:exon7:c.A932G:p.D311G	.	425	1096	1	0	0	1	0.000455996	.	.	.	3372247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.652	0.0423133120696	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs781724497	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0002	1.61e-05	1.416e-05	1.998e-05	1.74e-05	0	0	0	0	0	0.0002	2.788e-05	1.656e-05	0	4.598e-05	4.596e-05	5.138e-05	4.034e-05	7.349e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.823e-05	0	0	0	0	0	0	7.349e-05	0	0	0.005	0.63226	D	0.033	0.53072	D	1.0	0.90584	D	0.996	0.84481	D	0.004198	0.34013	U	0.000000	0.999995	0.58761	D	1.1	0.28011	L	-1.32	0.79761	T	-1.63	0.51968	N	0.842	0.89020	0.180	0.85572	D	0.543	0.83185	D	10	0.6904838	0.71824	D	0.042313	0.60398	D	0.652	0.86886	0.435	0.48664	0.762932097285	0.76077	0.712965908179204	0.71238	0.427500562777	0.43095	0.761319756508	0.76125	T	0.045559	0.55521	T	0.316394	0.84214	D	0.232188	0.84777	D	0.704029679298401	0.40910	D	0.906909	0.68653	D	0.21960443	0.44496	0.20991816	0.45356	0.21960443	0.44496	0.20991816	0.45355	-4.899	0.35724	T	.	.	0.915	0.84598	P	.;.;.;.	.;.;.;.	4.738540	0.76397	26.5	0.99786880632512198	0.87308	0.98351	0.81900	D	AEFDGBIJ	0.909514	0.86625	D	0.627890076153303	0.74944	6.219814	0.649831955629671	0.78596	6.908592	0.999999999999986	0.74766	0.706298	0.61202	0	0.633563	0.54681	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.862000	0.85432	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.247	0.73208	378	0.83833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2438.33	33	chr15	77180995	.	T	C	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.305;DP=801;ExcessHet=0;FS=5.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=1.2;SOR=0.419	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr15	77458420	77458420	A	G	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon2:c.A13G:p.M5V,HMG20A:NM_018200:exon3:c.A13G:p.M5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0159351701722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.22746	T	0.331	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	0.000028	0.55875	D	0.145961	0.956243	0.26305	N	0.205	0.09354	N	-0.12	0.64630	T	-1.6	0.38540	N	0.232	0.26233	-0.9436	0.42041	T	0.135	0.44933	T	10	0.12528199	0.23805	T	0.015935	0.36945	T	0.166	0.42578	0.316	0.29258	0.461451286077	0.45770	0.4150576980179047	0.41421	0.449592601622	0.44747	0.557818353176	0.46959	T	0.032693	0.22596	T	-0.0170454	0.49272	T	-0.262261	0.48599	T	0.340292781591415	0.26635	T	0.773323	0.40643	T	0.08453906	0.19571	0.10837787	0.26105	0.08453906	0.19571	0.10837787	0.26105	-2.251	0.04295	T	.	.	0.088	0.11461	B	.;.;.;.;.	.;.;.;.;.	2.480298	0.31981	18.91	0.86881530103245996	0.16837	0.66841	0.33219	D	AEFDBCI	0.354711	0.44670	N	-0.114305250156654	0.36770	2.129892	0.109460439987221	0.45031	2.773627	0.999999873852127	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.86	5.86	0.93936	4.183000	0.58114	6.154000	0.54239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.9223:0.0:0.0777:0.0	9.950	0.40804	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1755.33	34	chr15	77458420	.	A	G	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=807;ExcessHet=0;FS=4.41;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.559;SOR=1.042	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1285	18	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:41,19:60:18:18,0,849	9	0	10	0
chr15	78101092	78101092	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C839T:p.A280V	.	422	1069	31	0	0	31	0.0142923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0014	0.00459265	0.0037	0.0004	0.0004	0.0001	0	0.0024	0.0051	0.0219	0.0035963	556	154602	rs200468445	0.0033	0.0034	0.0028	0.0038	0.0198	0.0032	0.0032	0.0190	0.0187	0.0004	0.0006	0.0118	5.051e-05	0.0002	0.0104	0.0023	0.0034	0.0198	0.0022	0.0022	0.0022	0.0022	0.0234	0.0020	0.0019	0.0199	0.0186	0.0003	0	0.0006	0.0127	0	0	0	0.0022	0.0019	0.0234	0.097	0.52492	T	0.283	0.21478	T	0.004	0.12183	B	0.006	0.12133	B	0.751469	0.09696	N	0.851362	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-1.67	0.39887	N	0.095	0.08646	-1.0113	0.26510	T	0.043	0.18659	T	10	0.0025669634	0.00039	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.1341926991318437	0.13343	0.0383945426521	0.04090	0.337400346994	0.16049	T	0.002204	0.01604	T	-0.652509	0.00070	T	-0.69578	0.06060	T	0.00164904436769683	0.00017	T	0.510149	0.16261	T	0.060825747	0.12525	0.06729291	0.13903	0.060825747	0.12525	0.06729291	0.13902	-4.203	0.26795	T	.	.	0.133	0.28778	B	.;.	.;.	0.414932	0.07859	4.555	0.82195784847801401	0.14067	0.01596	0.05182	N	AEFDBI	0.083645	0.16947	N	-0.843033345769593	0.12221	0.5944259	-0.817332930343311	0.14075	0.733599	0.987545939951446	0.31289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.96	0.751	0.17541	-0.666000	0.05380	-0.847000	0.07194	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.772000	0.36596	0.0:0.5467:0.1638:0.2895	4.752	0.12440	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.000000	0.000000	0.017544	0.000000	0.000000	0.039634	0.022727	0.05263	2395.83	33	chr15	78101092	.	C	T	2395.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=765;ExcessHet=0.119;FS=2.679;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.496;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	17	0	2	0
chr15	78109325	78109325	G	A	exonic	CIB2	.	nonsynonymous SNV	CIB2:NM_001271889:exon2:c.C109T:p.L37F,CIB2:NM_001271888:exon3:c.C127T:p.L43F,CIB2:NM_001301224:exon3:c.C271T:p.L91F,CIB2:NM_006383:exon4:c.C256T:p.L86F	Deafness, autosomal recessive 48, Autosomal recessive;Usher syndrome, type IJ, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.1412425552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.66756	D	0.694	0.41705	P	0.452	0.46163	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	-0.68	0.72889	T	-3.01	0.66325	D	0.83	0.83781	-0.0483	0.81242	T	0.429	0.77173	T	10	0.7513665	0.75661	D	0.141243	0.82366	D	0.289	0.60808	0.556	0.67409	0.881854741291	0.88070	0.8364644075358075	0.83606	0.699032849931	0.61001	0.752524137497	0.74819	T	0.26382	0.63554	T	0.197693	0.73675	D	0.0461959	0.73332	D	0.978042701477953	0.72134	D	0.956104	0.89317	D	0.46703136	0.65107	0.3880454	0.63658	0.46703136	0.65108	0.3880454	0.63658	-11.059	0.79980	D	0.3091767019335109	0.40699	0.867	0.80711	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.926463	0.81178	27.5	0.9989295161173084	0.96666	0.98340	0.81793	D	AEFBI	0.928968	0.91399	D	0.646207685024101	0.76124	6.428856	0.651999930823936	0.78758	6.941516	0.999999999999311	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.63	4.63	0.57175	7.912000	0.86869	11.493000	0.92935	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:1.0:0.0	16.832	0.85813	791	0.46100	EF-hand domain;.;.;EF-hand domain;EF-hand domain;EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1516.33	41	chr15	78109325	.	G	A	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.706;DP=788;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.06;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr15	78274284	78274284	G	C	exonic	DNAJA4	.	nonsynonymous SNV	DNAJA4:NM_001130182:exon4:c.G506C:p.G169A,DNAJA4:NM_001130183:exon4:c.G425C:p.G142A,DNAJA4:NM_018602:exon5:c.G593C:p.G198A	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	.	0.0002	0.00519169	0.0025	0.0002	8.678e-05	0.0001	0	0.0002	0.0022	0.0170	0.0021345	330	154602	rs149661275	0.0012	0.0012	0.0007	0.0017	0.0170	0.0011	0.0011	0.0163	0.0160	8.961e-05	0.0003	0.0001	5.038e-05	0	0.0033	0.0001	0.0014	0.0170	0.0008	0.0008	0.0005	0.0012	0.0201	0.0007	0.0007	0.0169	0.0157	9.623e-05	0	0.0005	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0201	0.001	0.78490	D	0.022	0.83351	D	0.999	0.77913	D	0.919	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-0.16	0.69657	T	-5.51	0.86527	D	0.808	0.82862	0.569	0.91487	D	0.661	0.88235	D	10	0.014220059	0.00299	T	.	.	.	0.685	0.88490	.	.	0.921348960271	0.92055	0.5592713310500774	0.55854	0.944348631935	0.72353	0.623005867004	0.56154	T	0.168107	0.51499	T	-0.00535027	0.50913	T	0.232512	0.84791	D	0.178344698035607	0.19130	T	0.983602	0.94423	D	0.8629819	0.88313	0.82959324	0.90158	0.8629819	0.88315	0.82959324	0.90159	-9.519	0.73202	D	.	.	0.659	0.71281	P	.;.;.;.	.;.;.;.	5.040104	0.83879	28.2	0.99853672934908155	0.93279	0.99387	0.95371	D	AEFDBI	0.939978	0.94130	D	1.133867259664	0.98714	19.12637	1.06288667865194	0.99516	23.37584	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.790000	0.98212	11.653000	0.93904	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.287	0.94064	744	0.52588	.;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1573.33	34	chr15	78274284	.	G	C	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.617;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr15	78533483	78533483	G	T	exonic	HYKK	.	nonsynonymous SNV	HYKK:NM_001013619:exon5:c.G935T:p.R312L	.	434	1069	18	1	0	20	0.00926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	.	0.0017	0.00259585	0.0024	0.0004	0.0006	0	0	0.0021	0.0022	0.0084	0.0023415	362	154602	rs61741253	0.0026	0.0026	0.0024	0.0027	0.0094	0.0025	0.0025	0.0089	0.0087	0.0003	0.0006	0.0002	0	0.0003	0.0057	0.0023	0.0035	0.0094	0.0017	0.0017	0.0017	0.0017	0.0089	0.0015	0.0014	0.0068	0.0061	0.0003	0	0.0009	0	0	0	0.0102	0.0026	0.0014	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.35	0.91085	M	1.23	0.36872	T	-6.71	0.92518	D	0.96	0.96984	-0.3853	0.72488	T	0.307	0.67740	T	10	0.03451255	0.01662	T	.	.	.	0.765	0.92046	.	.	0.576212830723	0.57290	0.9002999689353005	0.90001	0.723265305388	0.62325	0.551575660706	0.46080	T	0.237048	0.60465	T	-0.0212141	0.48680	T	0.202724	0.83277	D	0.0967655910588514	0.11996	T	0.935506	0.75876	D	0.8207389	0.85269	0.87283623	0.93062	0.8207389	0.85271	0.87283623	0.93063	-13.303	0.90572	D	.	.	0.959	0.87972	P	.;.	.;.	5.451587	0.91058	32	0.99864954536169337	0.94276	0.99802	0.99565	D	AEFI	0.872013	0.79367	D	0.887935205200239	0.91157	10.74289	0.809571322358056	0.90453	10.41331	0.999999999981466	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	9.341000	0.96446	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.158	0.98120	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1475.33	37	chr15	78533483	.	G	T	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=828;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.849;SOR=0.451	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr15	78629898	78629898	C	T	exonic	CHRNB4	.	nonsynonymous SNV	CHRNB4:NM_000750:exon5:c.G407A:p.R136Q	.	319	1188	15	0	0	15	0.00627353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0237201777265	0.0059	0.00299521	0.0058	0.0023	0.0021	0	0.0012	0.0075	0.0046	0.0088	0.0059378	918	154602	rs56095004	0.0082	0.0082	0.0082	0.0081	0.0094	0.0081	0.0080	0.0092	0.0092	0.0008	0.0024	0.0067	2.519e-05	0.0017	0.0021	0.0094	0.0068	0.0079	0.0054	0.0054	0.0058	0.0049	0.0100	0.0051	0.0050	0.0086	0.0083	0.0015	0	0.0031	0.0052	0	0.0013	0.0068	0.0092	0.0028	0.0100	0.298	0.14595	T	0.298	0.20486	T	0.001	0.07471	B	0.002	0.06944	B	0.508783	0.11867	N	0.768419	1	0.08975	N	0.86	0.21358	L	-1.2	0.78537	T	-0.15	0.09297	N	0.019	0.00279	-1.0123	0.26196	T	0.123	0.42462	T	10	0.0066691935	0.00151	T	0.02372	0.46692	T	0.118	0.32913	.	.	0.451023696535	0.44722	0.3815583484376335	0.38070	0.349453596639	0.36798	0.254002094269	0.04202	T	0.141161	0.47608	T	-0.512798	0.00484	T	-0.494439	0.22927	T	0.000917445682811109	0.00009	T	0.164984	0.01519	T	0.036515042	0.04506	0.025596438	0.00610	0.036515042	0.04506	0.025596438	0.00610	-4.803	0.34627	T	.	.	0.086	0.10545	B	.	.	0.612269	0.09808	6.572	0.93740863074706704	0.23675	0.03564	0.08772	N	AEFDGBI	0.147673	0.27140	N	-1.27666627287001	0.03958	0.1777752	-1.22357769874387	0.05533	0.2638888	0.00862312750380765	0.11710	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	5.12	0.567	0.16510	-0.244000	0.08921	-3.668000	0.02618	-2.483000	0.00269	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1311:0.3677:0.1473:0.3539	1.580	0.02474	835	0.38313	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	rs56095004	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1882.33	35	chr15	78629898	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=809;ExcessHet=0;FS=7.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.007;SOR=1.211	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1896,0,2135	18	0	1	0
chr15	78766625	78766625	G	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.C3286A:p.P1096T	.	450	1061	10	1	0	12	0.00562324	.	.	.	2814399	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00759051114704	0.0049	0.00299521	0.0059	0.0026	0.0022	0	0.0012	0.0078	0.0024	0.0078	0.0050646	783	154602	rs147739185	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0007	0.0021	0.0067	0	0.0017	0.0032	0.0096	0.0068	0.0086	0.0054	0.0054	0.0056	0.0051	0.0106	0.0050	0.0049	0.0085	0.0082	0.0017	0	0.0025	0.0052	0	0.0013	0.0034	0.0091	0.0019	0.0106	0.263	0.16412	T	0.507	0.10930	T	0.799	0.44910	P	0.214	0.37471	B	0.314608	0.04036	N	1.452910	1	0.08975	N	1.735	0.44892	L	1.32	0.35219	T	-0.87	0.23590	N	0.214	0.23884	-1.0508	0.14175	T	0.049	0.20750	T	10	0.00807026	0.00183	T	0.007591	0.20139	T	0.049	0.13647	.	.	0.232513804876	0.22884	0.36712390816008983	0.36626	0.243943641455	0.26902	0.385494560003	0.23032	T	0.010987	0.09859	T	-0.573428	0.00211	T	-0.590634	0.13610	T	0.00404997857229894	0.00043	T	0.39976	0.10162	T	0.03786622	0.04935	0.036836218	0.03211	0.03786622	0.04935	0.036836218	0.03211	-4.9	0.35735	T	.	.	0.068	0.02861	B	.	.	0.619214	0.09878	6.637	0.69191770244208706	0.08894	0.41336	0.26635	N	AEFDBI	0.094450	0.19096	N	-0.474648709048877	0.22913	1.22682	-0.54320239779956	0.20986	1.133196	0.00755152155824172	0.11493	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567339	0.31927	0	.	.	4.3	2.32	0.27895	0.660000	0.24691	0.396000	0.17945	0.509000	0.23192	0.719000	0.28811	0.000000	0.08366	0.001000	0.02609	0.1076:0.196:0.6964:0.0	6.350	0.20574	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003941	0.000000	0.002732	0.004202	0.000000	0.000000	0.003497	0.004065	0.02632	1458.33	38	chr15	78766625	.	G	T	1458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=951;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=0.768;QD=18.23;ReadPosRankSum=-0.857;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,39:80:99:0|1:78766609_T_C:1472,0,1586:78766609	18	0	1	0
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.02632	278.33	33	chr15	78776778	.	C	T	278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=862;ExcessHet=0;FS=8.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-11.11;QD=1.49;ReadPosRankSum=1.96;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	18	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	130.33	41	chr15	78776843	.	T	C	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=883;ExcessHet=0;FS=12.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.84;MQRankSum=-6.026;QD=1.37;ReadPosRankSum=-1.086;SOR=0.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	18	0	1	0
chr15	78788282	78788282	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon8:c.C1271T:p.A424V	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0066	0.00439297	0.0018	0.0196	0.0008	0	0	1.499e-05	0	0.0001	0.0016235	251	154602	rs61748712	0.0007	0.0007	0.0007	0.0006	0.0240	0.0006	0.0006	0.0226	0.0221	0.0240	0.0008	0	0	0	0.0004	9.892e-06	0.0016	4.638e-05	0.0057	0.0057	0.0059	0.0055	0.0198	0.0054	0.0053	0.0187	0.0183	0.0198	0	0.0019	0	0	0	0	4.41e-05	0.0047	0.0006	0.162	0.23541	T	0.046	0.49120	D	0.019	0.17989	B	0.037	0.23121	B	0.042406	0.23845	N	0.444329	1	0.08975	N	0.55	0.14455	N	3.86	0.03624	T	-1.38	0.34198	N	0.052	0.02366	-1.0165	0.24852	T	0.029	0.12453	T	10	0.0051740706	0.00112	T	.	.	.	0.052	0.14661	.	.	0.321393169273	0.31749	0.419123224125266	0.41828	0.195307517549	0.21866	0.325715512037	0.14286	T	0.005766	0.05219	T	-0.698668	0.00037	T	-0.760108	0.03108	T	0.00718311943112658	0.00082	T	0.723528	0.33695	T	0.027940864	0.02059	0.030980352	0.01624	0.027940864	0.02058	0.030980352	0.01624	-4.688	0.33258	T	.	.	0.077	0.06571	B	.	.	0.647878	0.10163	6.906	0.99012097106608121	0.50377	0.17708	0.19953	N	AEFGBCI	0.096116	0.19408	N	-0.964733360448169	0.09364	0.4429037	-0.933402838018603	0.11309	0.5753419	0.0931295004993475	0.16175	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.37	-0.219	0.12488	1.170000	0.31493	0.323000	0.17205	-0.185000	0.09859	0.001000	0.13787	0.000000	0.08366	0.201000	0.21925	0.3559:0.1359:0.5082:0.0	5.374	0.15454	496	0.76301	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	956.33	33	chr15	78788282	.	G	A	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.736;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.158;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr15	79049560	79049560	C	T	exonic	RASGRF1	.	nonsynonymous SNV	RASGRF1:NM_001145648:exon4:c.G560A:p.R187H,RASGRF1:NM_002891:exon4:c.G560A:p.R187H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0125610252918	.	.	5.82e-05	0	0	0	0	1.505e-05	0	0.0004	4.53e-05	7	154602	rs780918719	1.916e-05	1.915e-05	1.906e-05	1.926e-05	0.0002	1.329e-05	1.144e-05	0.0001	0.0001	0	0	0	0	0	0.0002	8.095e-06	0	0.0002	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.57480	D	0.065	0.44905	T	0.941	0.52883	P	0.587	0.50368	P	0.324518	0.14216	N	0.673907	0.999348	0.46733	D	1.935	0.51832	L	1.03	0.40469	T	-1.72	0.40850	N	0.544	0.57092	-0.8714	0.50424	T	0.179	0.52473	T	10	0.26103443	0.43558	T	0.012561	0.31241	T	0.140	0.37593	0.314	0.28935	0.343804874344	0.33996	0.17516641537742011	0.17435	2.12214780581	0.95030	0.489460289478	0.37363	T	0.276459	0.64905	T	-0.282762	0.10378	T	-0.34362	0.39934	T	0.51678740978241	0.33247	D	0.949605	0.80601	D	0.14149565	0.32602	0.12859532	0.30937	0.14149565	0.32602	0.12859532	0.30936	-9.19	0.68912	D	.	.	0.079	0.19958	B	.;.	.;.	4.822701	0.78566	26.9	0.99955458759256088	0.99975	0.83669	0.42771	D	AEFDHCI	0.483436	0.52388	N	0.576338970128128	0.71699	5.690841	0.609931362649363	0.75660	6.350004	0.999998500551118	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.703000	0.61511	5.754000	0.49644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.172	0.81637	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	736.33	34	chr15	79049560	.	C	T	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.599;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr15	81290495	81290495	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon11:c.G1375A:p.E459K,IL16:NM_001352686:exon11:c.G1528A:p.E510K,IL16:NM_172217:exon11:c.G1375A:p.E459K,IL16:NM_001352685:exon12:c.G865A:p.E289K	.	420	1075	27	0	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.0135783	0.0105	0.0002	0.0011	0.0002	0	3.015e-05	0.0045	0.0765	0.0088615	1370	154602	rs200730945	0.0046	0.0046	0.0024	0.0068	0.0733	0.0045	0.0044	0.0717	0.0711	0.0001	8.956e-05	0	7.566e-05	0	0.0028	3.328e-05	0.0048	0.0733	0.0024	0.0024	0.0010	0.0037	0.0732	0.0022	0.0021	0.0669	0.0644	4.813e-05	0	6.533e-05	0	0.0002	0	0	1.47e-05	0.0009	0.0732	0.002	0.78490	D	0.011	0.64786	D	0.997	0.70673	D	0.961	0.70482	D	0.000409	0.44736	D	0.000000	0.999976	0.53665	D	2.34	0.67151	M	2.19	0.18724	T	-1.18	0.30140	N	0.361	0.43126	-1.0946	0.04810	T	0.098	0.36651	T	10	0.0032061934	0.00054	T	.	.	.	0.251	0.56024	0.443	0.49975	.	.	0.5396994548846176	0.53894	0.500221979732	0.48442	0.627624154091	0.56808	T	0.169673	0.58592	T	-0.229002	0.16782	T	-0.0466498	0.67252	D	0.0447532322338824	0.04557	T	0.929307	0.74183	D	0.28043443	0.51090	0.305622	0.56588	0.28043443	0.51090	0.305622	0.56587	-10.927	0.79460	D	.	.	0.233	0.49490	B	.;.;.	.;.;.	3.857957	0.55934	23.7	0.99926237934331785	0.99103	0.94383	0.60991	D	AEFBCI	0.920021	0.89138	D	0.627506272716689	0.74919	6.215501	0.548809964980565	0.71315	5.63603	0.999999999997521	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	8.102000	0.89386	9.316000	0.80002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:1.0:0.0	18.277	0.90025	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.041667	0.1053	2378.43	34	chr15	81290495	.	G	A	2378.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.775;DP=738;ExcessHet=0.7564;FS=0.524;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.799;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	15	0	4	0
chr15	81299820	81299820	-	CCT	exonic	IL16	.	nonframeshift insertion	IL16:NM_004513:exon2:c.391_392insCCT:p.S137_I138insS,IL16:NM_001172128:exon14:c.2494_2495insCCT:p.S838_I839insS,IL16:NM_001352686:exon14:c.2647_2648insCCT:p.S889_I890insS,IL16:NM_172217:exon14:c.2494_2495insCCT:p.S838_I839insS,IL16:NM_001352684:exon15:c.664_665insCCT:p.S228_I229insS,IL16:NM_001352685:exon15:c.1984_1985insCCT:p.S668_I669insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	6.775e-05	0.0002	8.84e-05	0.0001	0	6.152e-05	0	0	0.0001537	4	26028	rs568968641	4.927e-05	5.13e-05	4.221e-05	5.64e-05	0.0002	3.994e-05	3.671e-05	9.752e-05	6.952e-05	0.0002	0.0002	0	7.559e-05	0	0	4.678e-05	0	3.479e-05	6.576e-05	6.565e-05	3.86e-05	9.416e-05	0.0002	3.519e-05	2.618e-05	4.735e-05	3.05e-05	0.0001	0	0	0	0.0002	0	0	5.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1708.29	33	chr15	81299820	.	G	GCCT	1708.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.18;DP=832;ExcessHet=0;FS=2.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.085;SOR=0.476	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	18	0	1	0
chr15	81299992	81299992	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G563A:p.R188Q,IL16:NM_001172128:exon14:c.G2666A:p.R889Q,IL16:NM_001352686:exon14:c.G2819A:p.R940Q,IL16:NM_172217:exon14:c.G2666A:p.R889Q,IL16:NM_001352684:exon15:c.G836A:p.R279Q,IL16:NM_001352685:exon15:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	714646	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0079	0.00738818	0.0024	0.0268	0.0010	0	0	0	0	0	0.0021733	336	154602	rs17875512	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0007	0.0249	0.0243	0.0263	0.0012	0	5.058e-05	0	0	2.085e-05	0.0011	5.945e-05	0.0071	0.0071	0.0074	0.0068	0.0251	0.0067	0.0066	0.0238	0.0233	0.0251	0	0.0016	0	0.0002	0	0	4.411e-05	0.0043	0	0.851	0.03441	T	0.69	0.05939	T	0.01	0.17786	B	0.005	0.11217	B	0.931638	0.08417	N	0.955931	1	0.08975	N	0.57	0.15267	N	3.01	0.09075	T	0.36	0.07299	N	0.037	0.02272	-0.9338	0.43575	T	0.005	0.01797	T	10	0.0029067397	0.00047	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.13561508173948988	0.13485	0.125427775553	0.14139	0.222683817148	0.01470	T	0.085034	0.37411	T	-0.675378	0.00051	T	-0.723313	0.04637	T	0.00515059042254766	0.00056	T	0.756024	0.37907	T	0.02291157	0.00988	0.037191633	0.03321	0.02291157	0.00988	0.037191633	0.03321	-3.719	0.19599	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-0.727714	0.01257	0.065	0.80264653686563059	0.13121	0.01435	0.04825	N	AEFGBHCI	0.051139	0.09005	N	-1.4606899963958	0.02134	0.09390787	-1.50783926441269	0.02283	0.1047688	0.999999679529881	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.53	-3.93	0.03868	-0.823000	0.04550	-6.259000	0.01449	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7613:0.0:0.2387:0.0	13.125	0.58763	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2401.33	33	chr15	81299992	.	G	A	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=916;ExcessHet=0;FS=6.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.479;SOR=0.375	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	18	0	1	0
chr15	81300063	81300063	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G634A:p.E212K,IL16:NM_001172128:exon14:c.G2737A:p.E913K,IL16:NM_001352686:exon14:c.G2890A:p.E964K,IL16:NM_172217:exon14:c.G2737A:p.E913K,IL16:NM_001352684:exon15:c.G907A:p.E303K,IL16:NM_001352685:exon15:c.G2227A:p.E743K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0064358435196	.	.	9.199e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs776312860	6.365e-06	6.84e-06	5.594e-06	7.153e-06	9.426e-05	3e-06	2.17e-06	2.497e-05	1.292e-05	9.426e-05	2.642e-05	0	0	0	0	3.669e-06	1.719e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.107	0.31532	T	0.672	0.06265	T	0.036	0.21998	B	0.006	0.12133	B	0.223104	0.16092	N	0.524360	1	0.08975	N	0.785	0.19527	N	2.67	0.12575	T	-1.54	0.40274	N	0.114	0.10198	-1.0192	0.23975	T	0.025	0.10553	T	10	0.07611278	0.11850	T	0.006436	0.16927	T	0.027	0.05988	0.215	0.13498	0.115124310173	0.11017	0.21934208993019821	0.21850	0.125504674622	0.14151	0.391204237938	0.23839	T	0.183089	0.53531	T	-0.375545	0.03323	T	-0.592577	0.13443	T	0.0396013639958718	0.03619	T	0.705629	0.31596	T	0.072976254	0.16274	0.06451139	0.12940	0.072976254	0.16274	0.06451139	0.12940	-4.076	0.26679	T	.	.	0.076	0.10931	B	.;.;.	.;.;.	1.355620	0.17637	13.28	0.98396977539323716	0.41020	0.29975	0.23962	N	AEFDGBHCI	.	.	.	-0.805465385257051	0.13170	0.6469491	-0.810531796448373	0.14240	0.743067	0.999999992965173	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	3.41	0.38145	0.931000	0.28471	0.602000	0.19937	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0827:0.0:0.9173:0.0	12.363	0.54540	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1610.33	33	chr15	81300063	.	G	A	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.36;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	18	0	1	0
chr15	81332868	81332868	C	T	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon22:c.G2854A:p.D952N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0190836924033	.	.	3.434e-05	0	0	0	0	6.249e-05	0	0	2.59e-05	4	154602	rs777007591	1.643e-05	1.642e-05	8.171e-06	2.477e-05	1.799e-05	1.111e-05	9.34e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	4.969e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.411	0.10148	T	0.461	0.12562	T	0.0	0.02946	B	0.0	0.01387	B	0.514540	0.05166	U	1.430180	1	0.08975	N	1.32	0.33002	L	-0.05	0.63403	T	-0.3	0.11913	N	0.04	0.01347	-1.0237	0.22508	T	0.127	0.43421	T	10	0.04635197	0.03816	T	0.019084	0.41344	T	0.127	0.34888	0.079	0.00631	0.458191732957	0.45445	0.06455161387848159	0.06394	0.144285470447	0.16289	0.243978261948	0.03160	T	0.008517	0.07817	T	-0.414332	0.01861	T	-0.6406	0.09625	T	0.0234012349754781	0.01071	T	0.475352	0.14216	T	0.045253504	0.07375	0.02915017	0.01222	0.045253504	0.07375	0.02915017	0.01222	-3.325	0.14061	T	.	.	0.101	0.17445	B	.;.	.;.	0.437466	0.08075	4.802	0.96136054632364654	0.28820	0.07966	0.13949	N	AEFBI	0.095133	0.19226	N	-1.04110095364502	0.07763	0.3617345	-1.02972231364741	0.09135	0.452814	0.999649127294612	0.41316	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	1.21	0.20240	0.080000	0.14657	0.340000	0.17371	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5432:0.3295:0.1273	9.128	0.35987	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	97	chr15	81332868	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=1428;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.561;SOR=0.784	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr15	81341478	81341478	C	T	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon16:c.G1756A:p.V586I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0186048960065	0.0022	0.000998403	0.0009	0.0046	0.0001	0	0	0.0007	0	0.0009	0.0008538	132	154602	rs201261080	0.0012	0.0012	0.0012	0.0011	0.0034	0.0011	0.0011	0.0029	0.0027	0.0034	0.0002	3.836e-05	0	0	0.0002	0.0013	0.0018	0.0008	0.0019	0.0019	0.0021	0.0016	0.0045	0.0017	0.0016	0.0040	0.0037	0.0045	0	0.0005	0	0	0	0	0.0012	0.0028	0.0004	0.18	0.22053	T	0.152	0.32355	T	0.976	0.58310	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.45	0.12780	N	-0.03	0.63077	T	-0.65	0.18877	N	0.353	0.66101	-0.6838	0.61197	T	0.232	0.59842	T	10	0.014296353	0.00301	T	0.018605	0.40730	T	0.166	0.42578	.	.	0.468253365638	0.46452	0.45094334753411586	0.45012	0.45569561793	0.45240	0.848659992218	0.89412	D	0.006539	0.05971	T	-0.349641	0.04749	T	-0.273507	0.47464	T	0.027311357502147	0.01589	T	0.949605	0.80601	D	0.14856201	0.33910	0.15524322	0.36399	0.14856201	0.33910	0.15524322	0.36398	-8.583	0.64977	D	.	.	0.114	0.22537	B	.;.	.;.	4.478196	0.69849	25.4	0.9985401805771954	0.93279	0.97366	0.74295	D	AEFDBI	0.897932	0.84067	D	0.411156831251637	0.62034	4.413032	0.48959240519413	0.67298	5.065399	0.999999999999999	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	7.506000	0.80535	5.823000	0.50099	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	19.121	0.93347	934	0.15400	TMC domain;TMC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	696.33	33	chr15	81341478	.	C	T	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.21;DP=695;ExcessHet=0;FS=7.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.359;SOR=1.039	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	18	0	1	0
chr15	81358458	81358458	T	C	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon6:c.A544G:p.I182V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0101423156405	.	0.000798722	0.0005	0	0	0	0	0	0	0.0038	0.0004075	63	154602	rs565461129	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	2.52e-05	0	0.0002	2.699e-06	0.0002	0.0031	0.0002	0.0002	6.426e-05	0.0002	0.0046	0.0001	8.715e-05	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	0	0	0.0046	0.667	0.04616	T	0.576	0.08746	T	0.584	0.38894	P	0.351	0.42849	B	0.000007	0.62929	N	0.063133	0.999994	0.58761	D	0.95	0.23787	L	0.79	0.49068	T	0.18	0.05035	N	0.183	0.19861	-1.0940	0.04899	T	0.077	0.30889	T	10	0.0056450665	0.00125	T	0.010142	0.26324	T	0.076	0.22200	0.246	0.18139	0.0806252709748	0.07271	0.430933855435481	0.43010	0.136959586002	0.15447	0.558105826378	0.47000	T	0.007165	0.06585	T	-0.504218	0.00541	T	-0.499472	0.22403	T	0.0797025465210925	0.09948	T	0.853415	0.53896	D	0.052974463	0.09959	0.06761903	0.14014	0.052974463	0.09959	0.06761903	0.14014	-5.941	0.45783	T	.	.	0.123	0.25850	B	.;.	.;.	2.731822	0.35759	19.98	0.96741856695907269	0.30928	0.91609	0.53886	D	AEFDBI	0.656149	0.62824	D	-0.121045062413974	0.36477	2.108983	-0.0135516491115168	0.39102	2.31341	0.996778203983109	0.34998	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.21	4.1	0.47196	3.464000	0.52821	2.703000	0.34176	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0742:0.0:0.9258	10.753	0.45418	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1409.33	34	chr15	81358458	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=730;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.825;SOR=1.093	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	18	0	1	0
chr15	81374038	81374038	G	A	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon1:c.C40T:p.R14W	.	428	1093	1	0	0	1	0.000457247	.	.	.	3620187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0847276795651	0.0002	0.000199681	8.524e-05	0.0002	0.0002	0	0.0002	4.577e-05	0.0012	6.421e-05	7.76e-05	12	154602	rs181224593	8.21e-05	8.209e-05	8.577e-05	7.84e-05	0.0009	7.003e-05	6.553e-05	0.0003	0.0002	0.0004	0.0002	0	0.0001	0.0003	0.0009	5.936e-05	6.626e-05	4.64e-05	9.854e-05	9.844e-05	0.0001	9.402e-05	0.0002	6.005e-05	4.879e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0.0002	0.0002	0.0034	5.88e-05	0	0	0.001	0.78490	D	0.005	0.72224	D	0.996	0.68779	D	0.549	0.49194	P	0.138683	0.18369	N	0.391782	0.595653	0.30983	N	1.61	0.41143	L	-0.35	0.68616	T	-2.68	0.57275	D	0.153	0.15749	-0.6023	0.64722	T	0.220	0.58345	T	10	0.09873971	0.17872	T	0.084728	0.74387	D	0.165	0.42395	.	.	0.238096912614	0.23440	0.7102122934410243	0.70963	0.576793255271	0.53631	0.476382553577	0.35559	T	0.131173	0.46050	T	-0.258936	0.13024	T	-0.325006	0.42024	T	0.152851969003677	0.17328	T	0.735426	0.35200	T	0.12290649	0.28872	0.14967941	0.35332	0.12290649	0.28872	0.14967941	0.35331	-7.966	0.60838	D	.	.	0.126	0.34602	B	.;.	.;.	3.862525	0.56023	23.7	0.99707144052445773	0.81074	0.40608	0.26474	N	AEFBI	0.305973	0.41325	N	-0.136772803086951	0.35800	2.060922	-0.205369155197723	0.31343	1.772884	0.698097264620876	0.22664	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.38	1.12	0.19700	0.668000	0.24808	2.425000	0.32705	-0.781000	0.03322	0.996000	0.39380	1.000000	0.68203	0.204000	0.22012	0.0:0.1786:0.4538:0.3676	6.593	0.21849	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1021.33	33	chr15	81374038	.	G	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=700;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.208;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr15	82238326	82238326	T	C	exonic	EFL1	.	nonsynonymous SNV	EFL1:NM_001040610:exon5:c.A559G:p.I187V,EFL1:NM_001322845:exon7:c.A712G:p.I238V,EFL1:NM_024580:exon7:c.A712G:p.I238V	.	.	.	.	.	.	.	.	.	.	.	754726	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.0207386914164	0.0006	0.000199681	0.0002	0.0027	0	0	0	1.499e-05	0	0	0.0002005	31	154602	rs181043208	5.609e-05	5.609e-05	6.262e-05	4.95e-05	0.0017	4.61e-05	4.236e-05	0.0013	0.0012	0.0017	4.472e-05	0	0	0	0.0002	1.439e-05	9.934e-05	0	0.0005	0.0006	0.0005	0.0006	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0	0	0.0009	0	0.28	0.15509	T	0.422	0.14075	T	0.0	0.02946	B	0.005	0.11217	B	0.097932	0.20004	N	0.379653	0.984267	0.24815	N	.	.	.	-1.02	0.76300	T	-0.29	0.11728	N	0.137	0.16725	-0.9926	0.31933	T	0.191	0.54242	T	10	0.010206193	0.00228	T	0.020739	0.43393	T	0.127	0.34888	.	.	0.241078983079	0.23725	0.283814052145344	0.28294	0.173233558875	0.19515	0.29566514492	0.09756	T	0.004307	0.03719	T	-0.473744	0.00806	T	-0.45758	0.26863	T	0.00229203381977352	0.00024	T	0.69513	0.36121	T	0.031956837	0.03130	0.03756927	0.03437	0.031956837	0.03130	0.03756927	0.03437	-7.922	0.63592	D	0.1672888141420744	0.20850	0.055	0.00647	B	.;.	.;.	0.860522	0.12326	8.869	0.75603666170084827	0.11139	0.08020	0.13998	N	AEFGBI	0.051133	0.09005	N	-1.11178046418057	0.06432	0.2960929	-1.16074998923862	0.06577	0.3170307	0.0100696382498383	0.11960	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.51	-5.73	0.02204	0.055000	0.14112	-0.207000	0.10889	0.607000	0.46521	0.009000	0.18154	0.000000	0.08366	0.993000	0.69303	0.111:0.3712:0.0:0.5178	6.539	0.21570	888	0.27761	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1955.33	35	chr15	82238326	.	T	C	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.913;DP=877;ExcessHet=0;FS=1.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-0.754;QD=12.14;ReadPosRankSum=-0.854;SOR=0.838	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,26:187:99:.:.:621,0,5248:.	4	1	5	9
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	6	1	5	7
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	564.74	17	chr15	82345025	.	G	*	564.74	.	AC=4;AF=0.118;AN=34;BaseQRankSum=2.07;DP=1407;ExcessHet=3.116;FS=20.05;InbreedingCoeff=-0.1871;MLEAC=4;MLEAF=0.118;MQ=44.55;MQRankSum=-0.625;QD=0.92;ReadPosRankSum=-1.64;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	13	0	4	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	13	0	6	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:185:99:.:.:758,1131,6297:.	14	0	5	0
chr15	82345048	82345110	AGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_812del:p.C251_L271del,GOLGA6L10:NM_001322400:exon6:c.750_812del:p.R251_L271del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0187	0	0.125	0	0	0.0196	0	0	.	.	.	.	2.918e-05	0.0002	3.323e-05	2.504e-05	0.0001	2.081e-05	1.831e-05	4.043e-05	2.092e-05	0.0001	0	4.933e-05	0.0001	0	0	2.566e-05	6.641e-05	0	0.0001	0.0004	9.418e-05	0.0001	0.0003	6.737e-05	5.41e-05	7.93e-05	5.856e-05	0	0	0.0002	0	0	0.0002	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	106.96	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=1;MLEAF=0.028;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:185:99:.:.:758,1131,6297:.	17	0	1	1
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,58:185:99:.:.:758,0,4392:.	9	0	10	0
chr15	82787093	82787093	C	T	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001007122:exon2:c.G298A:p.V100I,FSD2:NM_001281806:exon2:c.G298A:p.V100I,FSD2:NM_001281805:exon3:c.G298A:p.V100I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00455612140794	0.0002	0.000798722	0.0005	0.0001	0.0011	0	0	0.0007	0	0	0.0004786	74	154602	rs181504252	0.0010	0.0010	0.0011	0.0009	0.0012	0.0010	0.0010	0.0012	0.0012	8.961e-05	0.0008	0	0	5.621e-05	0.0007	0.0012	0.0010	2.319e-05	0.0007	0.0007	0.0008	0.0006	0.0018	0.0006	0.0006	0.0012	0.0011	0.0001	0	0.0018	0	0	0	0	0.0011	0.0009	0.0002	0.405	0.11334	T	0.658	0.39040	T	0.013	0.16609	B	0.003	0.08700	B	0.911748	0.07420	N	1.049970	1	0.08975	N	1.43	0.35840	L	0.89	0.45636	T	0.14	0.21215	N	0.074	0.18784	-1.0196	0.23845	T	0.053	0.22655	T	10	0.011366874	0.00249	T	0.004556	0.11220	T	0.091	0.26358	.	.	0.0920862733494	0.08535	0.12642211751523277	0.12568	0.0433656557406	0.04671	0.34982407093	0.17896	T	0.008007	0.07373	T	-0.635805	0.00088	T	-0.721445	0.04726	T	0.0285868061613932	0.01774	T	0.626737	0.24270	T	0.019078307	0.00433	0.021652212	0.00210	0.019078307	0.00432	0.021652212	0.00210	-3.607	0.17958	T	.	.	0.065	0.05317	B	.;.;.	.;.;.	-0.266922	0.02765	0.373	0.70278121368591695	0.09243	0.03914	0.09299	N	AEFDBCI	0.047305	0.07951	N	-1.06432746294376	0.07309	0.3391519	-1.09445745253563	0.07808	0.3813121	0.0984778910163143	0.16306	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	-0.0651	0.13102	-0.388000	0.07411	-0.613000	0.08212	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1801:0.2179:0.178:0.424	0.679	0.00815	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1928.33	160	chr15	82787093	.	C	T	1928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.59;SOR=0.706	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr15	82787114	82787114	C	T	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001007122:exon2:c.G277A:p.E93K,FSD2:NM_001281806:exon2:c.G277A:p.E93K,FSD2:NM_001281805:exon3:c.G277A:p.E93K	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	8.2e-05	0.00638978	0.0036	0.0001	0.0002	0	0	4.495e-05	0.0033	0.0255	0.0030918	478	154602	rs201575973	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	8.961e-05	0	0	0	0	0.0019	5.396e-06	0.0015	0.0229	0.0008	0.0008	0.0004	0.0013	0.0253	0.0007	0.0007	0.0216	0.0203	7.215e-05	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0.0253	0.212	0.27783	T	0.337	0.31730	T	0.501	0.37169	P	0.202	0.36942	B	0.053057	0.22841	N	0.316724	1	0.08975	N	1.87	0.49600	L	0.9	0.45248	T	-2.4	0.52776	N	0.234	0.31365	-1.0449	0.15854	T	0.093	0.35363	T	10	0.0027678907	0.00043	T	.	.	.	0.036	0.09122	.	.	0.203808441222	0.19973	0.4523403363542117	0.45152	0.0545671830146	0.06037	0.334883749485	0.15670	T	0.035207	0.23629	T	-0.505279	0.00534	T	-0.480321	0.24412	T	0.0346434935927391	0.02747	T	0.739426	0.35812	T	0.1765378	0.38571	0.17556801	0.40031	0.1765378	0.38571	0.17556801	0.40030	-5.048	0.37357	T	.	.	0.073	0.13221	B	.;.;.	.;.;.	2.023232	0.25711	16.86	0.99087866288177762	0.52124	0.30870	0.24193	N	AEFDBCI	0.165017	0.29147	N	-0.389236175216186	0.25851	1.40643	-0.416633826151027	0.24509	1.342485	0.923434720178373	0.26743	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	3.64	0.40864	2.490000	0.44953	2.438000	0.32760	0.580000	0.29708	0.036000	0.20778	0.179000	0.23406	0.908000	0.44358	0.0:0.9164:0.0:0.0836	12.034	0.52712	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1915.33	41	chr15	82787114	.	C	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=800;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.15;SOR=0.589	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr15	82830602	82830602	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon9:c.C1645T:p.R549C	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00532200466614	0.0013	0.000998403	0.0012	0.0002	0.0010	0	0	0.0015	0.0011	0.0017	0.0010737	166	154602	rs142422388	0.0011	0.0011	0.0011	0.0011	0.0017	0.0011	0.0010	0.0014	0.0014	0.0001	0.0009	0.0027	0	7.5e-05	0.0008	0.0012	0.0010	0.0017	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0006	0.0032	0	9.438e-05	0	0.0012	0.0005	0.0010	0.228	0.18434	T	0.189	0.28575	T	0.0	0.02946	B	0.0	0.01387	B	0.765869	0.06568	N	1.116300	0.999999	0.08975	N	-1.275	0.00739	N	3.12	0.08106	T	3.15	0.00121	N	0.123	0.11483	-0.9080	0.47097	T	0.005	0.01506	T	10	0.0028557181	0.00046	T	0.005322	0.13618	T	0.069	0.20116	.	.	0.0297737177859	0.01360	0.16385699463753164	0.16305	0.0483182337376	0.05281	0.183945998549	0.00136	T	6.3E-4	0.00271	T	-0.636877	0.00087	T	-0.69487	0.06111	T	0.0131290138891474	0.00231	T	0.507849	0.16117	T	0.0561342	0.11004	0.035364404	0.02775	0.0561342	0.11003	0.035364404	0.02775	-6.606	0.51099	T	.	.	0.083	0.09336	B	.	.	-0.198355	0.03100	0.490	0.72740292430445108	0.10079	0.00515	0.02406	N	AEFDBHIJ	0.022586	0.01147	N	-1.46443680437737	0.02106	0.09263855	-1.46167721799125	0.02666	0.1230391	0.999878363887486	0.44625	0.729952	0.87565	0	0.585951	0.33947	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.5	-4.75	0.03003	-0.698000	0.05194	-7.106000	0.01230	-0.242000	0.07441	0.019000	0.19563	0.000000	0.08366	0.042000	0.14466	0.0:0.504:0.1433:0.3526	7.455	0.26429	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	536.33	31	chr15	82830602	.	C	T	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.23;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,826	18	0	1	0
chr15	83257701	83257701	C	G	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon5:c.G2705C:p.C902S,BNC1:NM_001717:exon5:c.G2726C:p.C909S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00688883652619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.05844	T	0.425	0.14116	T	0.915	0.50599	P	0.3	0.41660	B	0.000382	0.44960	D	0.243493	0.994199	0.42194	D	1.7	0.43825	L	1.05	0.39990	T	-0.76	0.21215	N	0.435	0.51494	-1.0632	0.10974	T	0.070	0.28740	T	10	0.29841137	0.47398	T	0.006889	0.18233	T	0.206	0.49396	0.583	0.70990	0.594201505739	0.59098	0.37473361655210036	0.37387	0.176531369317	0.19871	0.551101207733	0.46012	T	0.098968	0.40332	T	0.127	0.67078	D	-0.055206	0.66665	D	0.288714289665222	0.24536	T	0.564644	0.19916	T	0.071987584	0.15978	0.08596866	0.19886	0.071987584	0.15978	0.08596866	0.19885	-0.687	0.00711	T	.	.	0.122	0.39545	B	.;.	.;.	2.837091	0.37416	20.5	0.88767782459583278	0.18240	0.97377	0.74364	D	AEFBI	0.443772	0.50094	N	0.159483312687534	0.49262	3.128549	0.26076361657853	0.53264	3.496192	0.673554708822221	0.22401	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	2.062000	0.41039	5.684000	0.49308	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.998000	0.85391	0.1524:0.7722:0.0:0.0754	8.644	0.33158	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2047.33	44	chr15	83257701	.	C	G	2047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.261;DP=830;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-3.373;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	18	0	1	0
chr15	83263298	83263298	A	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.T1932G:p.D644E,BNC1:NM_001717:exon4:c.T1953G:p.D651E	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00773668092244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.56	0.10245	T	0.0	0.02946	B	0.0	0.04355	B	0.608730	0.05688	N	1.184430	1	0.08975	N	0.98	0.24916	L	1.01	0.41058	T	-0.63	0.18459	N	0.03	0.00717	-1.0206	0.23519	T	0.054	0.22997	T	10	0.04920301	0.04477	T	0.007737	0.20536	T	0.010	0.01040	0.349	0.34598	0.260580752073	0.25663	0.08935120883379911	0.08868	0.130659878838	0.14740	0.245917484164	0.03350	T	0.090114	0.38517	T	-0.335711	0.05690	T	-0.720002	0.04795	T	0.0495572420104584	0.05421	T	0.468553	0.13811	T	0.04778721	0.08224	0.056196526	0.09996	0.04778721	0.08224	0.056196526	0.09995	-3.074	0.11000	T	.	.	0.083	0.15832	B	.;.	.;.	-0.541278	0.01739	0.130	0.81951421751535092	0.13943	0.03584	0.08802	N	AEFDGBI	0.096183	0.19421	N	-1.2375458345272	0.04466	0.2016325	-1.28229393467768	0.04670	0.2208073	0.99723864097727	0.35404	0.656854	0.48797	0	0.563428	0.19063	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	4.79	-5.73	0.02204	-0.438000	0.06975	-3.404000	0.02812	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.489000	0.28769	0.351:0.1824:0.4666:0.0	8.538	0.32538	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2195.33	35	chr15	83263298	.	A	C	2195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.211;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr15	83263422	83263422	T	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.A1808G:p.H603R,BNC1:NM_001717:exon4:c.A1829G:p.H610R	.	432	1088	2	0	0	2	0.000918274	.	.	.	2360501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0057130247788	.	.	0.0001	0	0.0002	0	0	0.0002	0	0	9.06e-05	14	154602	rs747070639	4.446e-05	4.446e-05	4.764e-05	4.125e-05	0.0002	3.575e-05	3.257e-05	8.861e-05	6.427e-05	0	0.0002	0.0010	0.0001	0	0.0002	1.349e-05	0.0001	1.159e-05	4.599e-05	4.596e-05	6.423e-05	2.689e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0.0014	0	0	0	2.94e-05	0	0	0.359	0.11957	T	0.576	0.08624	T	0.001	0.07471	B	0.001	0.08700	B	0.758392	0.09643	N	0.899485	1	0.08975	N	0.85	0.21244	L	1.02	0.41058	T	-2.01	0.46337	N	0.077	0.05162	-1.0149	0.25368	T	0.053	0.22617	T	10	0.016630858	0.00351	T	0.005713	0.14802	T	0.058	0.16647	0.178	0.08503	0.0934897674506	0.08844	0.08814460456515852	0.08747	0.172788980557	0.19455	0.263696432114	0.05339	T	0.141758	0.47699	T	-0.480425	0.00735	T	-0.658574	0.08363	T	0.0189243218369098	0.00602	T	0.526147	0.17328	T	0.0626904	0.13121	0.06569487	0.13352	0.0626904	0.13120	0.06569487	0.13352	-2.991	0.10084	T	.	.	0.060	0.01328	B	.;.	.;.	0.005940	0.04325	1.096	0.86840494134739377	0.16808	0.31183	0.24273	N	AEFBI	0.146053	0.26940	N	-0.774134845955296	0.13986	0.6931323	-0.670987159464286	0.17687	0.9416247	0.0188700269673261	0.13104	0.656854	0.48797	0	0.563428	0.19063	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	4.93	3.79	0.42757	0.043000	0.13855	-3.278000	0.02912	0.665000	0.62972	0.018000	0.19461	0.000000	0.08366	0.542000	0.29985	0.0:0.091:0.1681:0.7408	5.698	0.17136	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1870.33	35	chr15	83263422	.	T	C	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.234;DP=798;ExcessHet=0;FS=6.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=1.03;SOR=0.354	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr15	83284580	83284580	G	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001717:exon1:c.C49G:p.R17G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.206026060096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307252375	2.099e-05	2.941e-05	2.078e-05	2.122e-05	0.0009	1.342e-05	1.081e-05	0.0006	0.0005	0	0	0	0	0	0	1.235e-06	3.171e-05	0.0009	3.394e-05	3.305e-05	2.648e-05	4.178e-05	0.0008	1.292e-05	8.21e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.511e-05	0	0.0008	0.666	0.04616	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	0.450197	0.04810	N	1.669390	1	0.08975	N	0	0.06538	N	0.84	0.47477	T	0.47	0.03090	N	0.057	0.02861	-1.0270	0.21429	T	0.057	0.24018	T	10	0.030584633	0.01186	T	0.206026	0.87017	D	0.034	0.08419	0.204	0.11936	0.0675242888579	0.06100	0.4139296161877739	0.41308	1.2529535883	0.81851	0.821463167667	0.85252	D	0.063039	0.32073	T	-0.289917	0.09645	T	-0.654222	0.08660	T	0.107816176928957	0.13195	T	0.217978	0.02763	T	0.07745538	0.17582	0.0787553	0.17669	0.07745538	0.17581	0.0787553	0.17669	-3.364	0.14576	T	.	.	0.071	0.03887	B	.	.	1.423294	0.18405	13.72	0.78460560558492998	0.12311	0.00199	0.01145	N	AEFDBCI	0.017558	0.00468	N	-1.67407945925556	0.00938	0.04061386	-1.6727029212958	0.01263	0.05693592	0.999998778097022	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.638787	0.57140	0	.	.	2.02	-0.37	0.11906	-0.666000	0.05380	-0.336000	0.09852	-0.531000	0.04959	0.000000	0.06391	0.001000	0.17328	0.794000	0.37478	0.0:0.5113:0.4887:0.0	8.095	0.29983	436	0.80373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.59	9	chr15	83284580	.	G	C	101.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.398;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,846	18	0	1	0
chr15	84016449	84016449	C	T	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon25:c.C4223T:p.T1408I,ADAMTSL3:NM_207517:exon25:c.C4223T:p.T1408I	.	.	.	.	.	.	.	.	.	.	.	3239569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0397651238748	.	.	0.0001	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs745412244	3.01e-05	3.078e-05	1.089e-05	4.951e-05	0.0005	2.282e-05	2.032e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.315e-05	1.313e-05	0	2.692e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.087	0.32929	T	0.025	0.56640	D	0.029	0.24253	B	0.01	0.28435	B	0.025330	0.01628	N	2.725140	1	0.08975	N	0.345	0.11182	N	-0.14	0.65747	T	-0.7	0.19933	N	0.247	0.27910	-0.9366	0.43149	T	0.162	0.49764	T	10	0.05379498	0.05627	T	0.039765	0.58997	D	0.146	0.38789	0.472	0.54699	0.623866145753	0.62080	0.3870877217374099	0.38623	0.139443188356	0.15718	0.340171694756	0.16463	T	0.012443	0.10938	T	-0.465658	0.00906	T	-0.53907	0.18389	T	0.0636053095808928	0.07723	T	0.454355	0.12956	T	0.065989316	0.14156	0.08347292	0.19130	0.065989316	0.14155	0.08347292	0.19130	-4.318	0.28761	T	.	.	0.111	0.25882	B	.;.	.;.	1.667006	0.21255	15.12	0.96533438694862506	0.30162	0.10202	0.15773	N	AEFI	0.084018	0.17025	N	-0.738346724431315	0.14952	0.7492764	-0.696866575477938	0.17039	0.9041889	0.280169049038723	0.18980	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.564101	0.26826	0	.	.	4.5	4.5	0.54382	1.880000	0.39263	2.092000	0.30554	-0.176000	0.10722	0.006000	0.17386	0.008000	0.19753	0.083000	0.17415	0.0:1.0:0.0:0.0	12.721	0.56513	635	0.64580	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1278.33	33	chr15	84016449	.	C	T	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=742;ExcessHet=0;FS=3.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.04;SOR=0.459	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1308	18	0	1	0
chr15	84031415	84031415	C	G	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.C4737G:p.N1579K,ADAMTSL3:NM_207517:exon28:c.C4737G:p.N1579K	.	423	1057	40	2	0	44	0.0203892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0003	0.00359425	0.0025	9.619e-05	0.0005	0	0	0.0007	0.0088	0.0151	0.0022639	350	154602	rs148548737	0.0013	0.0013	0.0009	0.0018	0.0174	0.0013	0.0013	0.0167	0.0164	5.974e-05	0.0001	0.0023	2.519e-05	0	0.0139	0.0002	0.0017	0.0174	0.0008	0.0008	0.0006	0.0011	0.0180	0.0007	0.0007	0.0150	0.0138	4.811e-05	0	0.0002	0.0020	0	0	0.0068	0.0003	0.0014	0.0180	0.92	0.02309	T	0.926	0.02814	T	0.006	0.13644	B	0.004	0.11217	B	0.002575	0.00898	N	3.231580	1	0.08975	N	1.145	0.29067	L	0.11	0.61923	T	0.0	0.10136	N	0.075	0.04913	-0.9520	0.40625	T	0.101	0.37392	T	10	0.006237477	0.00141	T	.	.	.	0.102	0.29158	0.408	0.44230	0.531679877283	0.52817	0.10540083997250971	0.10470	0.142973379505	0.16129	0.271489948034	0.06336	T	0.002445	0.01836	T	-0.619652	0.00111	T	-0.649238	0.09007	T	0.00818391816680629	0.00098	T	0.657934	0.26722	T	0.04212725	0.06331	0.045202307	0.06031	0.04212725	0.06331	0.045202307	0.06031	-4.004	0.23864	T	.	.	0.102	0.22609	B	.;.	.;.	1.553032	0.19905	14.49	0.34166219941351694	0.02075	0.07927	0.13913	N	AEFDBI	0.119643	0.23342	N	-0.82455612829479	0.12684	0.6198627	-0.716785762217609	0.16542	0.875626	4.77055522160839E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	3.24	0.36257	0.090000	0.14865	0.409000	0.18089	0.599000	0.40250	0.047000	0.21291	0.042000	0.21616	0.964000	0.52637	0.1665:0.6579:0.0:0.1757	5.034	0.13763	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.000000	0.011696	0.000000	0.008621	0.006098	0.018939	0.02632	879.33	33	chr15	84031415	.	C	G	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.24;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	18	0	1	0
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	847.21	63	chr15	84240189	.	C	T	847.21	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.014;DP=851;ExcessHet=1.383;FS=16.586;InbreedingCoeff=-0.1671;MLEAC=5;MLEAF=0.139;MQ=33.66;MQRankSum=0.219;QD=4.48;ReadPosRankSum=-0.05;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,100,1101:.	13	0	5	1
chr15	84240190	84240190	-	TGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.836_837insTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA:p.L299_C300insREQEERLRVQEERLHEQEERLHEQEERLCEQEERLREQEERL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.375e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	403.46	67	chr15	84240190	.	G	GTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTACA	403.46	.	AC=1;AF=0.036;AN=28;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.1016;MLEAC=1;MLEAF=0.036;MQ=36.85;QD=6.02;SOR=0.51	GT:AD:DP:GQ:PL	0/0:41,0:41:73:0,73,1041	13	0	1	5
chr15	84240252	84240252	T	C	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.T898C:p.C300R	.	780	741	1	0	0	1	0.000674309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000337505882042	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79369013	0.0006	0.0008	0.0003	0.0008	0.0008	0.0005	0.0005	0.0007	0.0006	0.0007	0.0003	0.0003	0.0003	0.0003	0	0.0008	0.0007	8.617e-05	0.0003	0.0004	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0004	0.0008	0	0	0	0.0002	0	0.0004	0.753	0.03555	T	0.528	0.16717	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.64	0.12780	T	0.63	0.02404	N	0.054	0.05414	-0.9369	0.43103	T	0.013	0.05225	T	6	0.0069882274	0.00159	T	3.38E-4	0.00039	T	0.014	0.01968	.	.	0.0297737177859	0.01360	0.015383870477581954	0.01494	2.79487049805	0.98869	0.589895248413	0.51479	T	0.003949	0.03363	T	-0.308908	0.07845	T	-0.681502	0.06893	T	0.00204312636553798	0.00021	T	0.129687	0.01018	T	0.10251209	0.24224	0.0855762	0.19768	0.10251209	0.24223	0.0855762	0.19767	-2.666	0.07022	T	.	.	0.061	0.01059	B	.;.	.;.	-0.350146	0.02406	0.269	0.17830623154316094	0.00536	0.00032	0.00291	N	AEFI	0.016444	0.00370	N	-1.08717320061997	0.06878	0.3179262	-1.33475065254582	0.03988	0.1872181	1.86927398725406E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	0.65	-1.04	0.09555	-1.904000	0.01684	-11.470000	0.00602	-1.403000	0.01139	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3976:0.0:0.6024	4.815	0.12728	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	315.71	49	chr15	84240252	.	T	C	315.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.065;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=35.63;MQRankSum=-1.423;QD=7.52;ReadPosRankSum=-0.207;SOR=0.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	17	0	1	1
chr15	84240514	84240514	A	G	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.A1160G:p.Q387R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00343090376359	.	.	0.0023	0.0075	0	0	.	0	0	0	3.84e-05	1	26028	rs768661572	0.0006	0.0004	0.0008	0.0005	0.0141	0.0006	0.0006	0.0126	0.0120	0.0141	0.0011	0	0	0	0.0011	3.382e-05	0.0012	1.851e-05	0.0064	0.0070	0.0067	0.0061	0.0161	0.0059	0.0057	0.0148	0.0142	0.0161	0	0.0022	0	0	0	0	4.816e-05	0.0026	0	0.115	0.28520	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	0.999845	0.49770	D	.	.	.	2.52	0.14160	T	-0.82	0.22508	N	0.034	0.00942	-1.1067	0.03369	T	0.043	0.18701	T	5	0.0045909286	0.00096	T	0.003431	0.07725	T	0.035	0.08770	0.222	0.14518	0.0297737177859	0.01360	0.05112221123813911	0.05054	2.01131077824	0.93913	.	.	.	0.019181	0.15329	T	-0.680391	0.00048	T	-0.732526	0.04214	T	0.00232051877063112	0.00024	T	0.306769	0.05902	T	0.19177786	0.40819	0.13391659	0.32101	0.19177786	0.40819	0.13391659	0.32100	-7.942	0.60674	D	.	.	0.108	0.20430	B	.	.	-0.008025	0.04228	1.039	0.17477137647491892	0.00511	0.00990	0.03761	N	AEFI	.	.	.	-0.772284040939275	0.14036	0.695961	-1.0215690170151	0.09311	0.4625322	2.12573956845421E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	.	.	.	-0.520000	0.06338	-0.806000	0.07354	-2.503000	0.00263	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.9998:0.0:2.0E-4:0.0	5.185	0.14504	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	226.94	1	chr15	84240514	.	A	G	226.94	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.162;DP=160;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.0872;MLEAC=2;MLEAF=0.083;MQ=32.42;MQRankSum=0.804;QD=7.09;ReadPosRankSum=-0.312;SOR=1.385	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	0	1	7
chr15	84512057	84512057	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433658785	0.0008	0.0008	0.0008	0.0008	0.0108	0.0008	0.0007	0.0098	0.0095	0	0	0	0.0108	0	0	1.861e-05	0.0007	0.0002	0.0004	0.0002	0.0004	0.0004	0.0095	0.0003	0.0002	0.0055	0.0043	0	0	0	0	0.0095	0	0	6.207e-05	0.0069	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	82.98	7	chr15	84512057	.	C	T	82.98	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=107;ExcessHet=0;FS=0;InbreedingCoeff=-0.0644;MLEAC=1;MLEAF=0.026;MQ=37.51;MQRankSum=0.674;QD=13.83;ReadPosRankSum=-1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,151	18	0	1	0
chr15	84512208	84512208	C	G	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	1.628e-05	2.115e-05	1.768e-05	1.509e-05	0.0010	8e-06	5.06e-06	0.0002	7.062e-05	0	0	0	0	0	0.0010	1.356e-05	0	3.782e-05	9.457e-06	6.719e-06	1.849e-05	0	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	198.33	36	chr15	84512208	.	C	G	198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.551;DP=630;ExcessHet=0;FS=4.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.96;MQRankSum=-1.548;QD=3.67;ReadPosRankSum=-1.762;SOR=0.063	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1363	18	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,40:188:99:.:.:876,0,5252:.	13	0	5	1
chr15	84512578	84512578	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	681	839	2	0	0	2	0.00119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868715838	0.0002	0.0006	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0	2.816e-05	4.083e-05	2.804e-05	0.0001	0.0005	0.0002	0.0002	6.438e-05	5.014e-05	0.0001	5.612e-05	4.391e-05	0.0001	2.281e-05	1.637e-05	2.413e-05	1.343e-05	2.451e-05	0	0.0001	0	0	0	0	6.635e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	582.33	406	chr15	84512578	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=1658;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.37;MQRankSum=-0.763;QD=1.43;ReadPosRankSum=-0.819;SOR=0.827	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr15	84512764	84512764	T	A	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	529	990	3	0	0	3	0.00151286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182290548	0.0003	0.0008	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	7.533e-05	0.0003	0	0	0.0003	2.644e-05	0.0004	0.0041	0.0001	0.0003	0.0001	0.0002	0.0031	8.333e-05	6.742e-05	0.0017	0.0013	0	0	0	0.0008	0	0	0	4.021e-05	0.0007	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	159.83	43	chr15	84512764	.	T	A	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.933;DP=677;ExcessHet=0.119;FS=4.553;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=37.9;MQRankSum=0.379;QD=2.19;ReadPosRankSum=0.16;SOR=1.408	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr15	84513296	84513296	T	G	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340761536	0.0004	0.0003	0.0002	0.0005	0.0028	0.0003	0.0003	0.0024	0.0023	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0001	0.0001	0.0003	0.0060	0.0001	9.435e-05	0.0035	0.0027	0	0	0.0002	0	0	0	0	0	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	30.92	10	chr15	84513296	.	T	G	30.92	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.278;DP=122;ExcessHet=0;FS=0;InbreedingCoeff=-0.0608;MLEAC=1;MLEAF=0.026;MQ=22;MQRankSum=0;QD=2.58;ReadPosRankSum=0.786;SOR=0.148	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,242	18	0	1	0
chr15	84680788	84680788	G	A	exonic	SEC11A	.	nonsynonymous SNV	SEC11A:NM_001271921:exon3:c.C206T:p.A69V,SEC11A:NM_001271920:exon4:c.C356T:p.A119V,SEC11A:NM_001271922:exon4:c.C356T:p.A119V,SEC11A:NM_014300:exon4:c.C356T:p.A119V,SEC11A:NM_001271918:exon5:c.C278T:p.A93V	.	431	1085	6	0	0	6	0.00275735	.	.	.	3310564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0050103724941	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0	6.06e-05	0.0001811	28	154602	rs201551814	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.244e-05	0.0024	2.521e-05	0	0.0021	0.0002	0.0003	2.329e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.157e-05	7.711e-05	0.0001	8.877e-05	2.417e-05	0	0	0.0017	0	0	0	0.0002	0.0005	0	0.558	0.06957	T	0.624	0.11795	T	0.214	0.30086	B	0.029	0.21540	B	0.000000	0.84330	D	0.047257	0.999994	0.58761	D	.	.	.	.	.	.	-1.3	0.32590	N	0.496	0.52918	-0.9871	0.33323	T	0.138	0.45451	T	9	0.03788215	0.02171	T	0.00501	0.12660	T	0.088	0.25558	.	.	0.65604970179	0.65317	0.725709430677067	0.72514	0.759425712328	0.64173	0.845433712006	0.88923	D	0.11219	0.42827	T	-0.116382	0.33718	T	-0.17925	0.56593	T	0.0695746392011642	0.08591	T	0.789921	0.53747	T	0.13549356	0.31444	0.116273195	0.28068	0.13549356	0.31444	0.116273195	0.28067	-7.378	0.59105	T	.	.	0.235	0.50754	B	.;.;.;.;.;.	.;.;.;.;.;.	4.419594	0.68443	25.2	0.96469820522577332	0.29932	0.97637	0.76068	D	AEFBI	0.819592	0.74057	D	0.0890156463410683	0.45950	2.843189	0.272136382134892	0.53918	3.558649	0.999999282870959	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	4.87	0.62877	7.971000	0.87616	8.561000	0.77567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8501:0.1499	14.147	0.64889	707	0.57054	Peptidase S26A, signal peptidase I, conserved site;.;.;Peptidase S26A, signal peptidase I, conserved site;.;Peptidase S26A, signal peptidase I, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1675.33	34	chr15	84680788	.	G	A	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.796;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr15	84858139	84858139	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3401T:p.A1134V	.	409	1094	19	0	0	19	0.00860897	.	.	.	505269	not_provided|ALPK3-related_disorder|not_specified|Cardiovascular_phenotype	MedGen:C3661900|.|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.0991630455031	0.0005	0.000399361	0.0012	0.0003	0.0018	0	0	0.0015	0.0014	0.0017	0.0001153	3	26028	rs139666355	0.0009	0.0009	0.0008	0.0009	0.0093	0.0008	0.0008	0.0073	0.0066	0.0005	0.0018	0.0039	0	0	0.0093	0.0007	0.0015	0.0014	0.0007	0.0007	0.0007	0.0006	0.0025	0.0006	0.0005	0.0014	0.0011	9.627e-05	0	0.0015	0.0029	0	0	0.0102	0.0007	0.0009	0.0025	0.009	0.57480	D	0.103	0.38305	T	0.022	0.18677	B	0.01	0.14941	B	0.405146	0.13071	N	0.720818	1	0.08975	N	1.545	0.39105	L	0.16	0.60610	T	-1.04	0.27259	N	0.053	0.02462	-1.0025	0.29197	T	0.131	0.44188	T	10	0.005576074	0.00123	T	0.099163	0.77063	D	0.015	0.02232	.	.	0.516217604878	0.51264	0.11891924480858854	0.11818	0.111437477428	0.12582	0.435870021582	0.30012	T	0.013169	0.11438	T	-0.458627	0.01003	T	-0.461641	0.26420	T	0.00349060985136757	0.00037	T	0.510949	0.16331	T	0.11256473	0.26591	0.078325756	0.17532	0.11256473	0.26591	0.078325756	0.17532	-4.546	0.31486	T	.	.	0.120	0.24633	B	.	.	0.605318	0.09738	6.506	0.97486891558126965	0.34219	0.12586	0.17359	N	AEFDGBI	0.100213	0.20156	N	-0.853872196482602	0.11955	0.579899	-0.919521836522363	0.11634	0.5938894	0.99702651272272	0.35208	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.69	0.158	0.14233	-0.391000	0.07383	-0.067000	0.12346	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1741:0.3815:0.3402:0.1042	2.739	0.04926	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007568	0.000000	0.014946	0.008772	0.000000	0.008621	0.003049	0.000000	0.05263	1564.83	34	chr15	84858139	.	C	T	1564.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.57;DP=756;ExcessHet=0.119;FS=0.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.667;SOR=0.711	GT:AD:DP:GQ:PL	0/1:19,26:45:99:667,0,455	17	0	2	0
chr15	84863615	84863615	G	A	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon11:c.G4474A:p.A1492T	.	429	1092	1	0	0	1	0.000457666	.	.	.	376728	Cardiovascular_phenotype|Cardiomyopathy,_familial_hypertrophic_27|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0031	0.00199681	0.0012	0.0130	0.0004	0	0	3.042e-05	0.0012	0	0.0009896	153	154602	rs114449938	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0005	7.654e-05	0	3.747e-05	0.0005	1.799e-05	0.0006	3.478e-05	0.0031	0.0031	0.0033	0.0030	0.0109	0.0029	0.0028	0.0101	0.0098	0.0109	0	0.0010	0	0.0002	9.413e-05	0	1.47e-05	0.0024	0	0.025	0.47320	D	0.252	0.23570	T	0.334	0.33305	B	0.035	0.22741	B	0.143705	0.18202	N	0.547339	1	0.08975	N	1.245	0.31408	L	2.56	0.13673	T	-1.12	0.28906	N	0.433	0.47208	-1.0027	0.29139	T	0.014	0.05369	T	10	0.0051348805	0.00111	T	.	.	.	0.050	0.13987	.	.	0.263140351381	0.25927	0.31858893002174477	0.31771	0.398029042616	0.40875	0.268398970366	0.05933	T	0.010224	0.09253	T	-0.569371	0.00223	T	-0.579607	0.14580	T	0.0101172288495818	0.00136	T	0.79572	0.43862	T	0.059273884	0.12027	0.07590774	0.16760	0.059273884	0.12027	0.07590774	0.16760	-3.38	0.14788	T	.	.	0.086	0.10545	B	.	.	2.278893	0.29133	18.03	0.98458135133095048	0.41711	0.23944	0.22238	N	AEFDBI	0.079316	0.16019	N	-0.619077778800906	0.18371	0.9532785	-0.589700077405896	0.19760	1.061685	0.999996124091736	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	3.93	0.44666	3.506000	0.53121	2.471000	0.32897	0.676000	0.76740	0.719000	0.28811	0.071000	0.22219	0.004000	0.06068	0.1454:0.0:0.8546:0.0	11.152	0.47689	641	0.64016	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1274.33	33	chr15	84863615	.	G	A	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.893;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.455;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr15	85244827	85244868	TGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon6:c.837_878del:p.E318_E331del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257926519	0.0009	0.0006	0.0010	0.0008	0.0237	0.0008	0.0008	0.0185	0.0166	0.0109	0.0029	0.0016	0.0237	0.0035	0.0010	0.0005	0.0024	4.034e-05	0.0007	0.0022	0.0005	0.0009	0.0149	0.0004	0.0003	0.0027	0.0011	0.0006	0	0.0009	0.0021	0	0	0	0.0006	0	0.0149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	151.68	49	chr15	85244826	.	ATGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACG	A	151.68	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.724;DP=1420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0662;MLEAC=3;MLEAF=0.5;MQ=47.05;MQRankSum=0.808;QD=3.7;ReadPosRankSum=-2.929;SOR=0.531	GT:AD:DP:GQ:PL	./.:61,0:61:0:0,0,1321	2	0	1	16
chr15	85247082	85247102	CAGGAGAGGCGGCAGGAGGAG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon11:c.1505_1525del:p.G507_A513del	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1360952351	0.0001	0.0011	9.974e-05	0.0001	0.0001	9.295e-05	8.76e-05	9.94e-05	9.335e-05	3.192e-05	4.948e-05	3.926e-05	0	0.0001	0	0.0001	0.0001	9.614e-05	0.0001	0.0010	0.0001	0.0001	0.0002	7.723e-05	6.402e-05	0.0001	7.955e-05	7.558e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	45.29	45	chr15	85247081	.	ACAGGAGAGGCGGCAGGAGGAG	A	45.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=748;ExcessHet=0;FS=12.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.63;MQRankSum=-1.179;QD=0.81;ReadPosRankSum=-0.068;SOR=3.609	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1529	18	0	1	0
chr15	85579534	85579534	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C1466T:p.P489L,AKAP13:NM_007200:exon7:c.C1466T:p.P489L	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00852930938731	0.0007	0.00219649	0.0021	0.0004	0.0006	0	0.0002	0.0021	0.0011	0.0061	0.0019663	304	154602	rs114358244	0.0019	0.0019	0.0017	0.0021	0.0071	0.0018	0.0018	0.0066	0.0064	0.0002	0.0015	0.0039	0	0.0005	0.0036	0.0016	0.0021	0.0071	0.0013	0.0013	0.0012	0.0014	0.0048	0.0011	0.0011	0.0033	0.0028	0.0002	0	0.0027	0.0052	0	0.0004	0.0034	0.0014	0.0024	0.0048	0.002	0.78490	D	0.014	0.62352	D	0.001	0.07471	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	3.56	0.12988	T	-3.24	0.65171	D	0.104	0.09349	-0.9888	0.32903	T	0.021	0.08639	T	9	0.0036013722	0.00065	T	0.008529	0.22557	T	0.005	0.00259	.	.	0.128874641272	0.12493	0.16166209830959727	0.16087	0.044942485866	0.04864	0.231293022633	0.02065	T	0.087773	0.43873	T	-0.545818	0.00309	T	-0.553639	0.16978	T	0.0220768894469677	0.00917	T	0.689931	0.29934	T	0.054482948	0.10461	0.10563667	0.25399	0.054482948	0.10460	0.10563667	0.25398	-3.543	0.17039	T	.	.	0.101	0.17700	B	.;.;.	.;.;.	1.669191	0.21281	15.13	0.90857184410694947	0.20105	0.05606	0.11511	N	AEFDBHCIJ	0.037972	0.05303	N	-1.12408300479103	0.06217	0.2855947	-1.14588449478735	0.06842	0.330735	0.999943246497221	0.47345	0.730579	0.87903	0	0.724815	0.89359	0	0.616094	0.41390	0	0.648885	0.59868	0	.	.	5.67	-0.614	0.11009	-0.246000	0.08896	-0.005000	0.13145	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1422:0.4648:0.0:0.3931	4.547	0.11487	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.000000	0.02632	1685.33	87	chr15	85579534	.	C	T	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=1415;ExcessHet=0;FS=5.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=-2.212;SOR=0.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800:.	18	0	1	0
chr15	85727404	85727404	T	C	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon21:c.T2891C:p.I964T,AKAP13:NM_006738:exon29:c.T7040C:p.I2347T,AKAP13:NM_007200:exon29:c.T7028C:p.I2343T	.	.	.	.	.	.	.	.	.	.	.	3958791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0179951869661	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs756742950	1.984e-05	1.984e-05	1.906e-05	2.063e-05	2.518e-05	1.392e-05	1.203e-05	1.746e-05	1.503e-05	0	0	0	0	0	0	2.518e-05	1.656e-05	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.087	0.42976	T	0.999	0.77913	D	0.997	0.92359	D	.	.	.	.	0.999878	0.50225	D	1.875	0.49914	L	1.0	0.41392	T	-3.11	0.63669	D	0.329	0.36989	-0.8768	0.50013	T	0.202	0.55919	T	9	0.35638416	0.52378	T	0.017995	0.39912	T	0.201	0.48592	0.292	0.25400	0.383609287871	0.37977	0.16791618606903977	0.16711	0.172126857099	0.19387	0.736145734787	0.72405	T	0.111835	0.42763	T	-0.118051	0.33442	T	-0.343703	0.39924	T	0.901494979858398	0.55424	D	0.864814	0.60756	D	0.14079054	0.32469	0.22066964	0.46850	0.14079054	0.32469	0.22066964	0.46849	-8.56	0.64825	D	.	.	0.809	0.77702	P	.;.;.;.;.	.;.;.;.;.	4.084612	0.60783	24.3	0.99835142072334548	0.91628	0.99103	0.91270	D	AEFDBIJ	0.744487	0.68746	D	0.62819629560869	0.74965	6.223183	0.65399319873491	0.78908	6.971967	0.999999999999487	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	5.842000	0.69133	7.862000	0.71495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.485	0.75289	768	0.49510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	71.33	34	chr15	85727404	.	T	C	71.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.393;DP=1015;ExcessHet=0;FS=123.463;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.51;SOR=7.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr15	85768967	85768967	C	T	exonic	KLHL25	.	nonsynonymous SNV	KLHL25:NM_022480:exon2:c.G844A:p.V282M	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0040	0.00479233	0.0063	0.0008	0.0017	0.0001	0.0100	0.0054	0.0057	0.0186	0.0058279	901	154602	rs139814429	0.0051	0.0051	0.0045	0.0056	0.0189	0.0050	0.0049	0.0181	0.0178	0.0006	0.0026	0.0021	0.0001	0.0110	0.0085	0.0042	0.0049	0.0189	0.0042	0.0042	0.0039	0.0046	0.0164	0.0040	0.0039	0.0135	0.0124	0.0007	0	0.0036	0.0026	0.0002	0.0113	0.0068	0.0050	0.0038	0.0164	0.0	0.91255	D	0.05	0.48080	T	0.303	0.32643	B	0.039	0.23607	B	0.001035	0.40562	N	0.157021	0.877088	0.35676	D	1.88	0.49984	L	-0.5	0.70480	T	-0.13	0.08971	N	0.311	0.35088	-0.6864	0.61076	T	0.178	0.52318	T	10	0.009336561	0.00211	T	.	.	.	0.126	0.34673	.	.	0.442160178816	0.43838	0.45976779887613484	0.45894	0.138109635781	0.15570	0.605850815773	0.53731	T	0.019296	0.15402	T	-0.313028	0.07485	T	-0.207483	0.53936	T	0.0599843843448097	0.07166	T	0.993076	0.97777	D	0.2028739	0.42346	0.15574831	0.36495	0.2028739	0.42346	0.15574831	0.36494	-4.404	0.29612	T	.	.	0.139	0.30476	B	.	.	4.239608	0.64268	24.7	0.99414508140852753	0.63453	0.90909	0.52491	D	AEFDGBI	0.240697	0.36243	N	-0.017471374367179	0.41065	2.449691	0.117594766082298	0.45448	2.807862	0.999999962092766	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	5.13	5.13	0.69729	2.697000	0.46727	5.968000	0.51946	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.983000	0.59808	0.0:0.9193:0.0:0.0807	13.024	0.58208	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2035.33	158	chr15	85768967	.	C	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.652;DP=1605;ExcessHet=0;FS=3.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-2.384;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1148	18	0	1	0
chr15	86522829	86522829	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon19:c.G2575A:p.G859R	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0398568303275	0.0002	.	5.807e-05	0.0001	0	0	0	6e-05	0	0.0001	4.53e-05	7	154602	rs372004187	4.243e-05	4.309e-05	5.447e-05	3.026e-05	0.0003	3.377e-05	3.066e-05	6.094e-05	3.491e-05	8.965e-05	0	0	0	0	0.0003	4.948e-05	0	2.319e-05	3.286e-05	3.284e-05	5.14e-05	1.345e-05	6.547e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.83e-05	0	6.547e-05	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.952	0.54136	P	0.411	0.44827	B	0.000084	0.51296	D	0.076157	0.988001	0.40687	D	3.5	0.92762	M	.	.	.	.	.	.	.	.	-0.7090	0.60002	T	0.112	0.40052	T	10	0.63041073	0.68483	D	0.039857	0.59048	D	0.338	0.66010	0.865	0.96050	0.425148423609	0.42132	0.5929296809942621	0.59222	0.0634877606661	0.07066	0.547682762146	0.45530	T	0.246663	0.61617	T	0.0547102	0.58947	T	0.0774795	0.75409	D	0.964524209499359	0.66984	D	0.972478	0.96942	D	0.22482793	0.45132	0.33925298	0.59693	0.22482793	0.45132	0.33925298	0.59692	.	.	.	.	.	0.224	0.71636	B	.;.;.	.;.;.	4.831183	0.78788	27.0	0.99919357166938738	0.98654	0.93709	0.58967	D	AEFDBI	0.621645	0.60626	D	0.636797394578181	0.75517	6.319976	0.602211581893179	0.75100	6.251229	0.136965391788212	0.17200	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.84	4.93	0.64394	5.260000	0.65309	8.505000	0.77371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0725:0.0:0.9275:0.0	13.977	0.63793	942	0.12992	Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	34	chr15	86522829	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.2;DP=747;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.147;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr15	88472362	88472362	G	A	exonic	MRPS11	.	nonsynonymous SNV	MRPS11:NM_001321974:exon3:c.G190A:p.E64K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53e-06	1.541e-06	0	8.535e-06	7.547e-06	0	0	.	.	0	0	0	0	0	0	7.547e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1343.33	35	chr15	88472362	.	G	A	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.037;DP=766;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.737;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	18	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	./.:97,0:97:0:0,0,2283	11	0	7	1
chr15	88626703	88626703	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon2:c.G494A:p.R165Q	.	420	1090	12	0	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0121805	0.0050	0	0.0002	0	0	6.108e-05	0.0068	0.0357	0.0044372	686	154602	rs200899445	0.0022	0.0022	0.0012	0.0032	0.0340	0.0021	0.0021	0.0330	0.0326	0	4.472e-05	0	7.557e-05	0	0.0029	5.486e-05	0.0024	0.0340	0.0012	0.0012	0.0007	0.0018	0.0377	0.0011	0.0010	0.0332	0.0315	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0.0009	0.0377	0.122	0.38633	T	0.198	0.46406	T	0.426	0.35504	B	0.135	0.33210	B	0.339945	0.13979	N	0.615929	1	0.08975	N	1.255	0.31814	L	2.13	0.19588	T	-1.82	0.44284	N	0.211	0.23506	-1.0389	0.17648	T	0.035	0.14943	T	10	0.0020347834	0.00029	T	.	.	.	0.018	0.03083	0.444	0.50139	0.165133752707	0.16062	0.24645600362431594	0.24559	0.100238913073	0.11331	0.280011594296	0.07494	T	0.025509	0.28454	T	-0.572887	0.00213	T	-0.569926	0.15456	T	0.0195877320220199	0.00661	T	0.783522	0.45286	T	0.077798955	0.17678	0.093652986	0.22132	0.077798955	0.17678	0.093652986	0.22131	-8.102	0.61764	D	.	.	0.079	0.12371	B	.;.	.;.	2.157721	0.27490	17.48	0.99757228965615097	0.84772	0.13591	0.17943	N	AEFBCI	0.071638	0.14270	N	-0.357069559436553	0.27013	1.478788	-0.295603272592338	0.28243	1.573179	0.999997118940257	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.32	3.1	0.34780	0.241000	0.17843	1.471000	0.26753	0.654000	0.53741	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.2925:0.1791:0.5283:0.0	3.987	0.09010	915	0.20917	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.018939	0.02632	1253.33	41	chr15	88626703	.	G	A	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.12;DP=853;ExcessHet=0;FS=5.935;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.873;SOR=1.371	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr15	88629371	88629371	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon3:c.G686A:p.R229Q	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0100085165697	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0003	8.41e-05	13	154602	rs372061573	9.098e-05	9.098e-05	7.623e-05	0.0001	0.0024	7.823e-05	7.305e-05	0.0015	0.0012	0	2.236e-05	3.826e-05	0	1.873e-05	0.0024	6.745e-05	8.279e-05	0.0004	4.603e-05	4.597e-05	5.142e-05	4.038e-05	7.353e-05	2.111e-05	1.528e-05	2.847e-05	1.859e-05	0	0	6.549e-05	0	0	0	0	7.353e-05	0.0005	0	0.241	0.17643	T	0.482	0.11829	T	0.818	0.45651	P	0.59	0.50460	P	0.154141	0.17870	N	0.507373	1	0.08975	N	1.965	0.53209	M	1.9	0.23486	T	-1.21	0.30762	N	0.251	0.28381	-1.0750	0.08348	T	0.071	0.29034	T	10	0.13104731	0.24939	T	0.010009	0.26035	T	0.059	0.16972	.	.	0.213573922156	0.20996	0.20674422366385367	0.20590	0.378017355706	0.39229	0.354640513659	0.18602	T	0.020221	0.15960	T	-0.44473	0.01213	T	-0.560445	0.16335	T	0.0588920899104336	0.06993	T	0.522448	0.17034	T	0.13356096	0.31062	0.06925833	0.14568	0.13356096	0.31062	0.06925833	0.14567	-5.598	0.42774	T	.	.	0.098	0.16054	B	.	.	4.167249	0.62634	24.5	0.99791394173863357	0.87750	0.28443	0.23555	N	AEFDBCI	0.081555	0.16503	N	-0.0483835483648573	0.39673	2.343526	-0.0758933730450454	0.36390	2.117101	0.999999660739797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.6	4.68	0.58319	0.745000	0.25927	7.479000	0.59237	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.267000	0.23694	0.1576:0.0:0.8424:0.0	9.353	0.37311	918	0.19598	Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	715.33	47	chr15	88629371	.	G	A	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=803;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.846;SOR=0.917	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr15	88630167	88630167	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G851A:p.C284Y	.	415	1059	46	2	0	50	0.0230627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0057	0.00778754	0.0096	0.0011	0.0056	0	0.0060	0.0086	0.0121	0.0278	0.0083569	1292	154602	rs118097475	0.0084	0.0084	0.0078	0.0091	0.0266	0.0083	0.0083	0.0257	0.0253	0.0011	0.0057	0.0088	2.519e-05	0.0064	0.0101	0.0078	0.0072	0.0266	0.0069	0.0069	0.0070	0.0069	0.0249	0.0066	0.0064	0.0213	0.0199	0.0011	0.0165	0.0107	0.0081	0	0.0067	0.0102	0.0087	0.0095	0.0249	0.831	0.02876	T	1.0	0.01155	T	0.014	0.16867	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.27	0.17431	T	-0.1	0.08495	N	0.074	0.04790	-0.9803	0.34932	T	0.012	0.04605	T	9	0.002837807	0.00045	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.29859636252446525	0.29772	0.150128431297	0.16938	0.263610422611	0.05328	T	0.027685	0.20221	T	-0.692297	0.00041	T	-0.746263	0.03633	T	0.00270222386677056	0.00028	T	0.461754	0.13398	T	0.08648601	0.20104	0.081791975	0.18616	0.08648601	0.20104	0.081791975	0.18616	-5.119	0.38107	T	.	.	0.069	0.03231	B	.	.	-1.185169	0.00546	0.013	0.65711679914311028	0.07850	0.08236	0.14191	N	AEFGBCI	0.051128	0.09002	N	-1.79489216728866	0.00558	0.02402399	-1.89809837427172	0.00494	0.0218834	0.999999999999766	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.37	-10.7	0.00191	-1.813000	0.01819	-2.601000	0.03561	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2179:0.3231:0.459:0.0	10.604	0.44574	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.010870	0.000000	0.000000	0.000000	0.012195	0.022727	0.02632	2294.33	34	chr15	88630167	.	G	A	2294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=831;ExcessHet=0;FS=0.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.574;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V,ACAN:NM_001369268:exon7:c.A1210G:p.I404V,ACAN:NM_013227:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1493	28	1	0	30	0.00994695	.	.	.	1196137	not_specified|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided	MedGen:CN169374|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.000000	0.000000	0.011696	0.050000	0.008621	0.012195	0.041667	0.02632	2016.33	33	chr15	88845663	.	A	G	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.487;DP=807;ExcessHet=0;FS=4.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.27;SOR=1.002	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	18	0	1	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S,ACAN:NM_001369268:exon10:c.C1753A:p.R585S,ACAN:NM_013227:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	1	1493	27	1	0	29	0.00961857	.	.	.	1196140	Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided	MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012652	0.000000	0.000000	0.014706	0.050000	0.008621	0.009259	0.041667	0.02632	1264.33	49	chr15	88849458	.	C	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=734;ExcessHet=0;FS=5.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.146;SOR=1.213	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	18	0	1	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T,ACAN:NM_001369268:exon10:c.G1882A:p.A628T,ACAN:NM_013227:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1494	27	1	0	29	0.0096122	.	.	.	1196141	Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type	MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.000000	0.002717	0.011696	0.050000	0.008621	0.012195	0.041667	0.02632	2526.33	41	chr15	88849587	.	G	A	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=974;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.154;SOR=0.637	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,117,1755	18	0	1	0
chr15	88856695	88856695	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G4110C:p.E1370D,ACAN:NM_001369268:exon12:c.G4110C:p.E1370D,ACAN:NM_013227:exon12:c.G4110C:p.E1370D	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	523	998	1	0	0	1	0.000500751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.110388302223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.06282	T	0.497	0.11371	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.76	0.80626	M	-3.9	0.96015	D	-0.04	0.10308	N	0.086	0.06990	0.192	0.85771	D	0.835	0.94465	D	9	0.12930837	0.24603	T	0.110388	0.78775	D	0.307	0.62838	0.191	0.10171	0.123314135267	0.11883	0.03146845250176042	0.03095	0.461946301009	0.45731	0.548612296581	0.45662	T	0.151324	0.49121	T	-0.036408	0.46481	T	-0.290074	0.45765	T	0.114967471681493	0.13931	T	0.584142	0.21304	T	0.03604188	0.04359	0.036033906	0.02971	0.03604188	0.04359	0.036033906	0.02971	-8.423	0.64739	D	0.12696733737914193	0.12916	0.571	0.67932	P	.;.;.;.;.;.	.;.;.;.;.;.	0.772006	0.11419	8.029	0.88272561369902525	0.17848	0.06001	0.11965	N	AEFBI	0.092321	0.18692	N	-0.621249408424883	0.18307	0.949379	-0.847241369926484	0.13353	0.692294	0.00475072818855355	0.10696	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.84	0.701	0.17263	-1.042000	0.03649	-15.477000	0.00355	-1.558000	0.00952	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2605:0.0:0.462:0.2775	3.887	0.08606	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	863.54	37	chr15	88856695	.	G	C	863.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.373;DP=429;ExcessHet=0;FS=3.928;InbreedingCoeff=-0.0403;MLEAC=1;MLEAF=0.026;MQ=38.19;MQRankSum=-1.243;QD=8.81;ReadPosRankSum=3.12;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,161:.	18	0	1	0
chr15	88856755	88856755	C	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C4170G:p.D1390E,ACAN:NM_001369268:exon12:c.C4170G:p.D1390E,ACAN:NM_013227:exon12:c.C4170G:p.D1390E	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	107	1372	25	2	16	45	0.010458	.	.	.	1683568	not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	.	0.0443291	0	0	0	0	0	0	0	0	0.0094129	245	26028	rs201822759	0.0069	0.0061	0.0067	0.0071	0.0094	0.0068	0.0067	0.0074	0.0073	0.0031	0.0076	0.0062	0.0032	0.0045	0.0094	0.0076	0.0094	0.0033	0.0097	0.0095	0.0110	0.0084	0.0168	0.0091	0.0088	0.0156	0.0151	0.0048	0	0.0073	0.0039	0.0019	0.0014	0.0254	0.0168	0.0076	0.0005	0.137	0.26852	T	0.662	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-3.98	0.96277	D	-0.48	0.21003	N	0.048	0.01999	0.043	0.83110	D	0.738	0.91058	D	9	0.0042357147	0.00085	T	.	.	.	0.258	0.56959	0.349	0.34598	0.117191471859	0.11215	0.02303425850539713	0.02255	0.236098789553	0.26144	0.573864936829	0.49224	T	0.153756	0.49474	T	-0.421962	0.01662	T	-0.377391	0.36028	T	0.00696940099352424	0.00079	T	0.367163	0.11156	T	0.05131588	0.09407	0.031162793	0.01666	0.038783524	0.05234	0.035093628	0.02695	-6.186	0.47809	T	0.12615419190264415	0.12685	0.596	0.69078	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.434138	0.02088	0.195	0.28414234301936492	0.01458	0.01166	0.04198	N	AEFBI	0.057259	0.10651	N	-1.18282007972721	0.05260	0.2393459	-1.38965550116176	0.03361	0.1566345	0.191794391933606	0.18009	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.52	-5.17	0.02632	-3.240000	0.00602	-20.000000	0.00162	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1206:0.2762:0.3565:0.2467	2.086	0.03424	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.076163	0.201220	0.067449	0.075221	0.100000	0.018182	0.065068	0.039370	0.05882	6336.94	37	chr15	88856755	.	C	G	6336.94	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.377;DP=1362;ExcessHet=0;FS=3.416;InbreedingCoeff=0.6162;MLEAC=2;MLEAF=0.059;MQ=46.77;MQRankSum=-0.489;QD=15.34;ReadPosRankSum=1.33;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1232:.	15	0	2	2
chr15	88856755	88856755	-	AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_001369268:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_013227:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0025	0.0018	0.0020	0.0026	0.0018	0.0018	0.0023	0.0022	0.0003	0.0004	0.0024	0.0005	0.0048	0.0024	0.0018	0.0024	0.0026	6.283e-05	6.267e-05	9.208e-05	3.217e-05	0.0001	2.066e-05	1.288e-05	4.919e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	6336.94	37	chr15	88856755	.	C	CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	6336.94	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.377;DP=1362;ExcessHet=0;FS=3.416;InbreedingCoeff=0.6162;MLEAC=1;MLEAF=0.029;MQ=46.77;MQRankSum=-0.489;QD=15.34;ReadPosRankSum=1.33;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1232:.	16	0	1	2
chr15	88856945	88856945	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G4360A:p.G1454R,ACAN:NM_001369268:exon12:c.G4360A:p.G1454R,ACAN:NM_013227:exon12:c.G4360A:p.G1454R	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.158047666365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209165088	6.844e-07	6.841e-07	0	1.376e-06	2.991e-05	0	0	.	.	2.991e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.187	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.967934	0.25825	N	.	.	.	-4.21	0.96957	D	-1.03	0.28290	N	0.186	0.39153	0.574	0.91550	D	0.924	0.97500	D	9	0.24203914	0.41393	T	0.158048	0.83852	D	0.502	0.78475	0.181	0.08877	0.043077524339	0.03247	0.15357518226032968	0.15279	0.850610521989	0.68517	0.474797993898	0.35341	T	.	.	.	0.163677	0.70541	D	-0.00266642	0.70163	D	0.818023800849915	0.47626	D	0.725127	0.35154	T	0.10739421	0.25395	0.107073516	0.25770	0.10739421	0.25395	0.107073516	0.25770	-8.311	0.67122	D	0.12630084985918852	0.12725	0.394	0.59239	A	.;.;.;.;.;.	.;.;.;.;.;.	3.077169	0.41385	21.3	0.99806744434806627	0.89085	0.07410	0.13430	N	AEFBI	0.211773	0.33753	N	-0.170160803009139	0.34381	1.961684	-0.378251558485331	0.25646	1.41168	0.327645485793053	0.19451	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.53	2.6	0.30173	3.687000	0.54423	3.277000	0.37202	0.347000	0.19874	0.373000	0.25949	0.225000	0.23742	0.021000	0.11733	0.124:0.0:0.876:0.0	7.761	0.28118	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4599.33	182	chr15	88856945	.	G	A	4599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=3253;ExcessHet=0;FS=3.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.56;MQRankSum=0.201;QD=12.67;ReadPosRankSum=0.415;SOR=0.542	GT:AD:DP:GQ:PL	0/0:157,0:157:99:0,120,1800	18	0	1	0
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I,ACAN:NM_001369268:exon12:c.G5147T:p.S1716I,ACAN:NM_013227:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1492	29	1	0	31	0.0102819	.	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.000000	0.000000	0.014620	0.050000	0.008621	0.009146	0.045455	0.02632	2066.33	126	chr15	88857732	.	G	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=2374;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.253;SOR=0.814	GT:AD:DP:GQ:PL	0/0:134,0:134:99:0,120,1800	18	0	1	0
chr15	88858152	88858152	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5567A:p.S1856N,ACAN:NM_001369268:exon12:c.G5567A:p.S1856N,ACAN:NM_013227:exon12:c.G5567A:p.S1856N	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	376734	not_provided|Inborn_genetic_diseases|not_specified|Meniere_disease	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.013211905361	0.0011	.	0.0014	0	0.0007	0	0.0026	0.0019	0	0.0007	0.0012936	200	154602	rs200762388	0.0014	0.0014	0.0013	0.0014	0.0014	0.0013	0.0013	0.0014	0.0014	0.0001	0.0006	0.0021	0	0.0026	0.0003	0.0014	0.0016	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0008	0.0017	0	0.0018	0	0.0014	0.0009	0.0004	0.003	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	0.001877	0.37789	N	0.000000	0.999371	0.21289	N	.	.	.	3.79	0.04046	T	-2.32	0.53096	N	0.393	0.52475	-1.0941	0.04884	T	0.066	0.27191	T	10	0.03621176	0.01907	T	0.013212	0.32434	T	0.225	0.52323	.	.	0.75628909357	0.75407	0.6005349000290376	0.59984	0.746177584644	0.63531	0.549843132496	0.45835	T	.	.	.	-0.441223	0.01272	T	-0.413827	0.31786	T	0.0716508595910453	0.08881	T	0.850115	0.54290	D	0.30878377	0.53681	0.33646685	0.59448	0.30878377	0.53681	0.33646685	0.59448	-9.904	0.75176	D	0.12656324713814032	0.12801	0.448	0.63820	A	.;.;.;.;.;.	.;.;.;.;.;.	4.356630	0.66959	25.0	0.99670709967959203	0.78587	0.98354	0.81929	D	AEFBI	0.849396	0.76622	D	0.89993245169139	0.91756	11.04791	0.859269497821852	0.93545	12.11461	0.999995352848182	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	6.788000	0.74893	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.513	0.90875	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2077.33	141	chr15	88858152	.	G	A	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.117;DP=2163;ExcessHet=0;FS=1.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.22;SOR=0.824	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L,ACAN:NM_001369268:exon12:c.G5800C:p.V1934L,ACAN:NM_013227:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1492	29	1	0	31	0.0102819	.	.	.	1196146	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.000000	0.011696	0.050000	0.008621	0.009146	0.041667	0.02632	2111.33	85	chr15	88858385	.	G	C	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=1543;ExcessHet=0;FS=3.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.99;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:101:99:.:.:0,120,1800:.	18	0	1	0
chr15	88859394	88859394	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G6809A:p.R2270H,ACAN:NM_001369268:exon12:c.G6809A:p.R2270H,ACAN:NM_013227:exon12:c.G6809A:p.R2270H	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0119110794457	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002981169	1.489e-05	1.642e-05	1.682e-05	1.292e-05	0.0004	9.57e-06	8.12e-06	6.681e-05	5.074e-05	0	0	0	2.743e-05	0	0.0004	7.373e-06	0	0.0001	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.483	0.39097	T	0.12	0.35970	T	.	.	.	.	.	.	0.458698	0.04856	N	1.460060	1	0.08975	N	.	.	.	4.65	0.02319	T	-0.78	0.21644	N	0.053	0.04426	-0.9195	0.45621	T	0.009	0.03359	T	10	0.060677618	0.07490	T	0.011911	0.29998	T	0.083	0.24192	0.143	0.04650	0.043077524339	0.03247	0.3457199473406659	0.34485	0.299232278164	0.32289	0.237358480692	0.02557	T	.	.	.	-0.416665	0.01797	T	-0.63797	0.09818	T	0.0957669281054343	0.11884	T	0.368163	0.13811	T	0.026851736	0.01796	0.026173156	0.00692	0.026851736	0.01796	0.026173156	0.00692	-4.084	0.28414	T	0.1267659159798348	0.12860	0.153	0.38300	B	.;.;.;.;.;.	.;.;.;.;.;.	2.340213	0.29987	18.30	0.99546685638147658	0.70836	0.01197	0.04272	N	AEFBI	0.028868	0.02621	N	-0.318866139576084	0.28432	1.568147	-0.416095184351572	0.24524	1.343438	0.00772484641764799	0.11530	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.41	2.01	0.25568	0.944000	0.28641	0.911000	0.22627	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.663000	0.33052	0.3703:0.2069:0.4229:0.0	3.689	0.07872	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1723.33	45	chr15	88859394	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=856;ExcessHet=0;FS=5.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.691;SOR=1.164	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr15	88909921	88909921	T	C	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon2:c.A76G:p.I26V,MFGE8:NM_005928:exon2:c.A76G:p.I26V,MFGE8:NM_001310320:exon3:c.A52G:p.I18V	.	418	1097	7	0	0	7	0.00318037	.	.	.	726326	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0155751	0.0085	0	0.0007	0.0183	0	8.992e-05	0.0077	0.0520	0.0075937	1174	154602	rs143117049	0.0035	0.0035	0.0021	0.0049	0.0502	0.0034	0.0034	0.0490	0.0485	0.0002	0.0002	0	0.0103	1.874e-05	0.0019	7.554e-05	0.0051	0.0502	0.0028	0.0028	0.0018	0.0039	0.0576	0.0026	0.0025	0.0520	0.0499	0.0004	0	0.0005	0	0.0236	0	0	5.879e-05	0.0009	0.0576	0.838	0.16958	T	0.106	0.39799	T	0.005	0.14655	B	0.004	0.10090	B	0.000135	0.49741	D	0.244211	1	0.81001	D	-0.345	0.03330	N	-2.86	0.91421	D	0.08	0.06026	N	0.256	0.29197	-0.6061	0.64565	T	0.265	0.63577	T	10	0.0045621097	0.00095	T	.	.	.	0.282	0.59981	.	.	0.780309997318	0.77828	0.6435828370275465	0.64293	0.0927251273686	0.10471	0.412731528282	0.26835	T	0.044387	0.26799	T	-0.366783	0.03760	T	-0.263129	0.48510	T	0.0157270759769986	0.00364	T	0.350665	0.09032	T	0.019394567	0.00469	0.026178306	0.00694	0.019394567	0.00469	0.026178306	0.00694	-2.388	0.05423	T	.	.	0.079	0.12512	B	.;.;.;.	.;.;.;.	1.552104	0.19892	14.49	0.95068260374652636	0.26104	0.73719	0.36059	D	AEFBCI	0.464936	0.51322	N	-0.539347433875791	0.20819	1.100357	-0.343215859517718	0.26719	1.477697	0.999989497530103	0.51787	0.706548	0.73137	0	0.588015	0.36545	0	0.672317	0.60874	0	0.714379	0.83352	0	.	.	5.39	3.45	0.38602	3.918000	0.56144	3.800000	0.39865	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1468:0.687:0.1662	9.669	0.39166	958	0.09170	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	rs143117049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.005882	0.000000	0.000000	0.009146	0.026515	0.05263	3288.83	34	chr15	88909921	.	T	C	3288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=866;ExcessHet=0.119;FS=0.936;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.18;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	17	0	2	0
chr15	89215166	89215166	A	G	exonic	RLBP1	.	nonsynonymous SNV	RLBP1:NM_000326:exon6:c.T419C:p.I140T	Bothnia retinal dystrophy, Autosomal recessive;Fundus albipunctatus, Autosomal recessive, Autosomal dominant;Newfoundland rod-cone dystrophy;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4065336	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.606	0.0883798576376	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750679782	7.525e-06	8.209e-06	8.168e-06	6.876e-06	1.159e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.008	0.67890	D	0.243	0.30970	B	0.226	0.38054	B	0.000002	0.62929	D	0.100695	1	0.81001	D	1.845	0.48678	L	-1.08	0.77078	T	-2.68	0.57275	D	0.822	0.81758	-0.2954	0.75113	T	0.397	0.74937	T	10	0.83742744	0.82898	D	0.08838	0.75122	D	0.606	0.84506	0.651	0.78858	0.731511515365	0.72912	0.739925090530092	0.73937	0.65005057927	0.58299	0.374092876911	0.21417	T	0.700515	0.91373	D	0.0545056	0.58921	T	0.00964532	0.70960	D	0.95399135351181	0.64158	D	0.936706	0.76258	D	0.7025308	0.78195	0.5580631	0.74434	0.7025308	0.78196	0.5580631	0.74435	-7.926	0.60565	D	0.30109292997060644	0.39844	0.499	0.64527	A	.	.	4.805614	0.78123	26.8	0.9958487569081852	0.73218	0.98903	0.88402	D	AEFDBI	0.877683	0.80247	D	0.199714265158883	0.51184	3.301878	0.30640897116836	0.55916	3.754453	0.999995973400248	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.95	4.95	0.64894	8.685000	0.90972	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.930000	0.46718	1.0:0.0:0.0:0.0	14.620	0.68174	934	0.15400	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1244.33	34	chr15	89215166	.	A	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.076;SOR=0.751	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr15	89215224	89215224	G	A	exonic	RLBP1	.	nonsynonymous SNV	RLBP1:NM_000326:exon6:c.C361T:p.R121W	Bothnia retinal dystrophy, Autosomal recessive;Fundus albipunctatus, Autosomal recessive, Autosomal dominant;Newfoundland rod-cone dystrophy;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	422055	Retinal_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.920	0.235358670528	.	0.000199681	4.124e-05	9.63e-05	0.0002	0.0002	0	0	0	0	4.53e-05	7	154602	rs201153598	6.772e-05	6.772e-05	7.214e-05	6.325e-05	0.0003	5.67e-05	5.26e-05	6.092e-05	5.461e-05	8.961e-05	8.944e-05	0	2.519e-05	0	0.0003	7.284e-05	0.0001	0	0.0001	0.0001	0.0001	0.0001	0.0002	6.509e-05	5.321e-05	0.0001	8.436e-05	0.0002	0	0.0001	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.8	0.95696	D	-7.09	0.93950	D	0.988	0.99611	1.065	0.98451	D	0.936	0.97897	D	10	0.98358786	0.98504	D	0.235359	0.88451	D	0.920	0.97965	.	.	0.899993097487	0.89900	0.9167358775907068	0.91648	0.839975404743	0.68004	0.702809154987	0.67551	T	0.905306	0.98174	D	0.266973	0.80169	D	0.499746	0.94626	D	0.987104117870331	0.77667	D	0.975469	0.91344	D	0.8950153	0.90942	0.73306835	0.84225	0.8950153	0.90943	0.73306835	0.84226	-10.749	0.78263	D	0.4690957486359759	0.54988	0.434	0.61424	A	.	.	5.666417	0.92909	33	0.99907380649816036	0.97801	0.94908	0.62748	D	AEFDBI	.	.	.	0.793437178284766	0.85692	8.652941	0.684918022995624	0.81232	7.479168	0.694329882606152	0.22624	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.65	3.66	0.41111	4.501000	0.60115	5.676000	0.49275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8458:0.1542	13.769	0.62497	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	34	chr15	89215224	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=709;ExcessHet=0;FS=3.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.06;SOR=1.345	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr15	89330133	89330133	C	G	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon3:c.G803C:p.G268A,POLG:NM_002693:exon3:c.G803C:p.G268A	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	193515	POLG-related_disorder|not_specified|not_provided|Progressive_sclerosing_poliodystrophy|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Mitochondrial_DNA_depletion_syndrome_4b|POLG-Related_Spectrum_Disorders|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2U|Tip-toe_gait	MedGen:CN180166|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014566,MedGen:C4084821,OMIM:616280,Orphanet:397735|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.967	.	0.0038	0.00279553	0.0035	0.0007	0.0067	0	0.0064	0.0042	0.0089	0.0004	0.0034411	532	154602	rs61752784	0.0040	0.0040	0.0040	0.0039	0.0047	0.0039	0.0039	0.0044	0.0043	0.0006	0.0047	0.0052	0	0.0044	0.0045	0.0045	0.0038	0.0004	0.0035	0.0035	0.0036	0.0035	0.0063	0.0033	0.0032	0.0053	0.0049	0.0009	0.0110	0.0063	0.0049	0	0.0055	0	0.0044	0.0076	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.05	0.86762	M	-3.19	0.93170	D	-5.19	0.83625	D	0.985	0.99611	0.870	0.95282	D	0.881	0.96042	D	10	0.05388558	0.05650	T	.	.	.	0.967	0.99571	.	.	0.976043902796	0.97578	0.9146863483025671	0.91443	0.682688991899	0.60127	0.665116786957	0.62141	T	0.909564	0.98286	D	0.18421	0.72430	D	0.495834	0.94539	D	0.0295018331513688	0.01913	T	0.80342	0.45053	T	0.9451431	0.95772	0.880827	0.93620	0.9223718	0.93479	0.8764509	0.93315	-14.526	0.94640	D	0.7398773921310636	0.82190	0.845	0.79473	P	.;.	.;.	4.524040	0.70963	25.6	0.99852384555800955	0.93191	0.98857	0.87776	D	AEFDBCI	0.906147	0.85855	D	0.938711959875959	0.93523	12.09615	0.887834194407588	0.95019	13.24074	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.870000	0.85529	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.959	0.92645	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.008621	0.015244	0.000000	0.02632	1392.33	33	chr15	89330133	.	C	G	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.311;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.385;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1439	18	0	1	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del,POLG:NM_002693:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	not_specified|not_provided|Progressive_sclerosing_poliodystrophy|Inborn_genetic_diseases|POLG-related_disorder|Hereditary_spastic_paraplegia|Mitochondrial_DNA_depletion_syndrome_1|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_4b	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN180166|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13218.9	82	chr15	89333596	.	TTGCTGCTGC	T	13218.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=1466;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=0.635;SOR=0.694	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr15	89477624	89477624	C	G	exonic	RHCG	.	nonsynonymous SNV	RHCG:NM_001321041:exon7:c.G1005C:p.Q335H,RHCG:NM_016321:exon7:c.G1005C:p.Q335H	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00994568419956	.	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001488	23	154602	rs545843212	8.14e-05	8.14e-05	5.581e-05	0.0001	0.0005	6.935e-05	6.486e-05	0.0003	0.0003	5.974e-05	0.0001	0	0	0	0.0005	6.115e-05	3.312e-05	0.0005	7.882e-05	7.874e-05	8.996e-05	6.717e-05	0.0006	4.495e-05	3.511e-05	0.0002	9.003e-05	2.408e-05	0	0	0	0	0	0	0.0001	0.0005	0.0006	0.607	0.05517	T	0.808	0.03968	T	0.01	0.15535	B	0.015	0.17295	B	0.000000	0.84330	D	0.050352	0.999269	0.46490	D	1.44	0.36004	L	2.07	0.20387	T	0.5	0.02945	N	0.459	0.49602	-1.0532	0.13520	T	0.030	0.12848	T	9	0.13630953	0.25935	T	0.009946	0.25901	T	0.155	0.40530	0.715	0.85051	0.238705975628	0.23479	0.8883357217356472	0.88802	0.485832983668	0.47462	0.460876375437	0.33430	T	0.041588	0.25906	T	-0.347739	0.04870	T	-0.394549	0.34019	T	0.0683294452187839	0.08416	T	0.911709	0.68653	D	0.32897818	0.55387	0.15141785	0.35669	0.32897818	0.55387	0.15141785	0.35669	-4.573	0.31831	T	.	.	0.482	0.63769	A	.	.	2.484169	0.32036	18.92	0.93346901866786325	0.23079	0.90228	0.51239	D	AEFDBI	.	.	.	-0.154881981967217	0.35027	2.006799	0.0464694477199104	0.41901	2.525194	0.0478298065889722	0.14744	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.58	4.47	0.53770	1.601000	0.36383	2.534000	0.33182	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1475:0.7208:0.0:0.1317	7.989	0.29387	878	0.29785	Ammonium transporter AmtB-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1587.33	38	chr15	89477624	.	C	G	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.261;DP=754;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.502;SOR=1.002	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	89592047	89592047	C	G	exonic	TICRR	.	nonsynonymous SNV	TICRR:NM_001308025:exon5:c.C1409G:p.A470G,TICRR:NM_152259:exon5:c.C1412G:p.A471G	.	.	.	.	.	.	.	.	0.0007	0.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00736093689089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	6.84e-07	0	1.383e-06	9.043e-07	0	0	.	.	0	0	0	0	0	0	9.043e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26192	T	0.496	0.11335	T	0.873	0.47975	P	0.385	0.43987	B	0.157908	0.17756	N	0.600380	1	0.08975	N	2.24	0.63355	M	2.5	0.14408	T	-1.07	0.27876	N	0.15	0.15328	-1.0511	0.14092	T	0.030	0.12892	T	9	0.112169415	0.21031	T	0.007361	0.19523	T	0.030	0.07022	0.251	0.18912	0.202949470691	0.19918	0.11031773274349606	0.10960	0.0255153859567	0.02608	0.313961207867	0.12506	T	0.004536	0.03938	T	-0.286117	0.10029	T	-0.648764	0.09040	T	0.108480970968275	0.13265	T	0.40486	0.10377	T	0.06423913	0.13609	0.060034484	0.11367	0.06423913	0.13609	0.060034484	0.11367	-3.879	0.21988	T	.	.	0.096	0.15743	B	.;.	.;.	1.035921	0.14163	10.74	0.97616079443798687	0.34938	0.09478	0.15225	N	AEFDBIJ	0.097651	0.19691	N	-0.431267766213395	0.24379	1.31598	-0.5887258459056	0.19786	1.063175	0.448434382602153	0.20518	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.14	0.323	0.15136	0.341000	0.19652	-0.365000	0.09647	0.450000	0.21304	0.083000	0.22414	0.000000	0.08366	0.244000	0.23106	0.3533:0.474:0.0:0.1727	5.496	0.16096	895	0.25842	Treslin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr15	89592047	.	C	G	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.02;DP=798;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.29;SOR=0.559	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1514	18	0	1	0
chr15	89633777	89633777	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon12:c.A2501G:p.Q834R	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	0	1499	22	1	0	24	0.00794176	.	.	YES	247107	not_specified|Acrocallosal_syndrome|Nephronophthisis|not_provided	MedGen:CN169374|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.08900442336	0.0024	0.000998403	0.0033	0.0007	0.0024	0	0.0014	0.0041	0.0023	0.0046	0.0031371	485	154602	rs138354681	0.0047	0.0047	0.0047	0.0046	0.0053	0.0046	0.0045	0.0052	0.0051	0.0007	0.0021	0.0032	0	0.0012	0.0031	0.0053	0.0053	0.0037	0.0030	0.0030	0.0035	0.0025	0.0056	0.0028	0.0027	0.0051	0.0049	0.0006	0	0.0009	0.0023	0.0004	0.0007	0.0068	0.0056	0.0028	0.0031	0.034	0.44029	D	0.239	0.24477	T	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.82	0.48142	T	-3.38	0.66780	D	0.668	0.67650	-0.5827	0.65510	T	0.286	0.65792	T	10	0.020664513	0.00480	T	0.089004	0.75242	D	0.245	0.55201	.	.	0.585504228005	0.58223	0.42016603571	0.41932	0.152034226705	0.17156	0.636750817299	0.58103	T	0.706374	0.91588	D	-0.358978	0.04188	T	-0.284837	0.46306	T	0.00380415575136937	0.00040	T	0.789921	0.43036	T	0.6410829	0.74889	0.47864857	0.69800	0.6410829	0.74890	0.47864857	0.69801	-10.856	0.78862	D	0.6778041764939509	0.75377	0.265	0.49988	B	.	.	4.026663	0.59515	24.1	0.99686958177224039	0.79641	0.92267	0.55320	D	AEFBHCI	0.909507	0.86623	D	0.702533064691778	0.79797	7.154563	0.67204728082149	0.80263	7.259984	0.999999999107258	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.12	5.12	0.69459	7.944000	0.87202	6.122000	0.53799	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.894	0.70271	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.011364	0.02632	1212.33	39	chr15	89633777	.	T	C	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=755;ExcessHet=0;FS=9.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.924;SOR=1.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	18	0	1	0
chr15	89648308	89648308	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.A1390G:p.I464V	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	7	1506	9	0	0	9	0.00297915	.	.	.	341485	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.139	0.153396277549	.	0.000399361	0.0015	0	0	0	0	0	0	0.0024	0.0001229	19	154602	rs570856269	0.0003	0.0003	0.0002	0.0004	0.0024	0.0003	0.0003	0.0021	0.0020	3.294e-05	0.0001	0	0	0	0.0023	0.0002	0.0004	0.0024	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.723e-05	0.0008	0.0006	4.813e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0017	0.313	0.13879	T	0.597	0.08025	T	0.043	0.21573	B	0.021	0.19346	B	0.000004	0.62929	U	0.000000	0.997687	0.44098	D	2.485	0.72352	M	-0.62	0.71895	T	-0.16	0.09460	N	0.203	0.22486	-0.7827	0.56149	T	0.264	0.63534	T	10	0.007978946	0.00181	T	0.153396	0.83467	D	0.139	0.37390	0.12	0.02719	0.682399439722	0.67969	0.24251828648780865	0.24165	0.0606905089599	0.06755	0.889000177383	0.95135	D	0.091074	0.38721	T	-0.383569	0.02957	T	-0.328985	0.41583	T	0.0542463964984042	0.06230	T	0.860314	0.55333	D	0.051097695	0.09334	0.05417529	0.09269	0.051097695	0.09334	0.05417529	0.09268	-1.877	0.02749	T	0.2586999643734568	0.34951	0.242	0.47578	B	.	.	2.701580	0.35291	19.86	0.9945232932422543	0.65325	0.97220	0.73400	D	AEFDBI	0.654661	0.62727	D	-0.243260025261783	0.31372	1.758486	-0.178331256621388	0.32335	1.838589	0.999997242732638	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	4.39	3.26	0.36471	5.530000	0.66854	1.092000	0.23989	0.643000	0.52288	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0853:0.0:0.9147	9.551	0.38475	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	358.33	41	chr15	89648308	.	T	C	358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.21;DP=764;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.107;SOR=1.238	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr15	89648478	89648478	G	T	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.C1220A:p.A407D	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	134850	not_specified|Inborn_genetic_diseases|Acrocallosal_syndrome|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	0.237569703483	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs587780375	0.0002	0.0002	0.0003	0.0002	0.0116	0.0002	0.0002	0.0103	0.0098	0.0116	0.0007	0	0	0	0	1.247e-06	0.0008	0	0.0025	0.0025	0.0028	0.0023	0.0086	0.0023	0.0022	0.0078	0.0076	0.0086	0	0.0009	0	0	0	0	3.034e-05	0.0020	0	0.134	0.26300	T	0.38	0.15988	T	0.535	0.37805	P	0.331	0.42107	B	.	.	.	.	0.998543	0.45064	D	0.805	0.20218	L	-0.57	0.71307	T	-1.82	0.42763	N	0.189	0.20660	-0.7506	0.57904	T	0.268	0.63939	T	9	0.053034514	0.05431	T	0.23757	0.88549	D	0.114	0.32008	.	.	0.71767939224	0.71519	0.7656517102123761	0.76514	0.0496312943959	0.05439	0.879316329956	0.93869	D	0.208042	0.56786	T	-0.349812	0.04739	T	-0.269566	0.47862	T	0.59617668390274	0.36249	D	0.70443	0.31478	T	0.44101483	0.63468	0.41743755	0.65797	0.44101483	0.63469	0.41743755	0.65797	-6.461	0.49984	T	0.5164895140644009	0.58942	0.152	0.33619	B	.	.	3.167966	0.42947	21.6	0.99029185281982901	0.50764	0.89712	0.50354	D	AEFDBI	0.387824	0.46766	N	-0.0201585984337846	0.40944	2.440337	0.0195510332663457	0.40623	2.427363	0.9999999756321	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.440796	0.06475	0	0.562822	0.20929	0	.	.	3.92	3.92	0.44525	3.841000	0.55557	8.965000	0.78464	0.554000	0.28208	0.996000	0.39380	1.000000	0.68203	0.591000	0.31164	0.0978:0.0:0.9022:0.0	9.799	0.39921	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	101.41	4	chr15	89648478	.	G	T	101.41	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.282;DP=189;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.0638;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.28;ReadPosRankSum=0.524;SOR=1.447	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,734	17	0	1	1
chr15	89652882	89652882	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon2:c.C49T:p.R17W	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	134864	Acrocallosal_syndrome|not_provided|not_specified	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.407	.	.	0.00519169	0.0022	0.0195	0.0077	0	0	0.0002	0	0.0002	0.0005175	80	154602	rs141865394	0.0005	0.0005	0.0006	0.0004	0.0167	0.0005	0.0005	0.0155	0.0150	0.0167	0.0012	0.0004	0.0006	0	0.0007	3.913e-05	0.0011	3.803e-05	0.0039	0.0039	0.0039	0.0040	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0020	0.0003	0.0010	0	0	5.88e-05	0.0009	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	0.779872	0.34253	D	3.645	0.94141	H	-0.85	0.74371	T	-5.94	0.89093	D	0.487	0.52119	0.361	0.88515	D	0.465	0.79340	T	9	0.011151433	0.00245	T	.	.	.	0.407	0.71946	.	.	0.621650015432	0.61858	0.5328956549714687	0.53214	0.0969859525798	0.10956	0.696668505669	0.66663	T	0.796096	0.94752	D	-0.247684	0.14385	T	-0.114931	0.62215	T	0.0602973406734012	0.07215	T	0.979435	0.92911	D	0.61568093	0.73532	0.601872	0.76867	0.78684586	0.83078	0.58453274	0.75910	-11.191	0.80695	D	0.25490548436094257	0.34471	0.128	0.27283	B	.	.	3.108110	0.41911	21.4	0.99767264052827698	0.85583	0.30311	0.24050	N	AEFDGBHCI	0.685027	0.64717	D	-0.02407268420362	0.40766	2.426714	-0.259221426044242	0.29455	1.650361	0.999439271756791	0.39683	0.696267	0.57585	0	0.588066	0.40923	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	4.66	2.23	0.27189	1.089000	0.30501	1.990000	0.30074	-0.140000	0.12423	0.045000	0.21207	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.5816:0.4184	12.848	0.57230	842	0.36989	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1560.33	38	chr15	89652882	.	G	A	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=883;ExcessHet=0;FS=2.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.778;SOR=0.976	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	18	0	1	0
chr15	89673353	89673353	C	A	exonic	PLIN1	.	nonsynonymous SNV	PLIN1:NM_001145311:exon3:c.G107T:p.C36F,PLIN1:NM_002666:exon3:c.G107T:p.C36F	Lipodystrophy, familial partial, type 4, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	380260	not_provided|Monogenic_diabetes	MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.106	0.0264715335007	0.0006	.	0.0017	0	0	0	0	0.0032	0	0.0001	0.0006856	106	154602	rs140081686	0.0006	0.0006	0.0006	0.0006	0.0002	0.0006	0.0005	0.0001	0.0001	0.0002	0	0.0223	0	1.903e-05	0.0002	0.0001	0.0018	0.0002	0.0006	0.0006	0.0006	0.0006	0.0002	0.0005	0.0005	0.0001	0.0001	2.413e-05	0	6.544e-05	0.0202	0	0	0.0034	0.0002	0.0005	0.0002	0.097	0.30943	T	0.007	0.69154	D	0.999	0.77913	D	0.987	0.77487	D	0.000069	0.52346	D	0.131866	0.594142	0.30995	N	2.665	0.77964	M	3.44	0.05375	T	-1.72	0.40850	N	0.468	0.50418	-1.0893	0.05650	T	0.053	0.22655	T	10	0.008116901	0.00184	T	0.026472	0.49374	D	0.106	0.30130	.	.	0.486779940545	0.48312	0.4969907810911468	0.49620	0.193161676155	0.21650	0.460864007473	0.33429	T	0.256712	0.62766	T	-0.357902	0.04249	T	-0.44733	0.27992	T	0.0662625023497315	0.08116	T	0.821218	0.48050	T	0.30742553	0.53562	0.28353724	0.54347	0.2490106	0.47892	0.32877973	0.58763	-5.28	0.39744	T	0.3107195794300954	0.40859	0.225	0.45641	B	.;.	.;.	4.482808	0.69953	25.5	0.98733698456561014	0.45393	0.36509	0.25549	N	ALL	0.371835	0.45770	N	0.479521933686034	0.65894	4.88041	0.423514975397304	0.63035	4.529316	0.999999997437445	0.74766	0.520426	0.21595	0	0.858003	0.99906	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	4.92	4.92	0.64147	1.666000	0.37076	5.905000	0.50941	0.599000	0.40250	0.774000	0.29403	1.000000	0.68203	0.979000	0.57723	0.0:0.8517:0.1483:0.0	14.408	0.66663	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	533.33	46	chr15	89673353	.	C	A	533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=700;ExcessHet=0;FS=3.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.15;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr15	89733016	89733016	-	G	exonic	WDR93	.	frameshift insertion	WDR93:NM_020212:exon13:c.1342dupG:p.V449Gfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	423.29	31	chr15	89733016	.	T	TG	423.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=625;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.425;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,33:33:99:.:.:1431,101,0:.	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:31,0:31:0:.:.:0,0,148:.	1	15	1	2
chr15	89799550	89799550	T	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon12:c.A1829G:p.D610G,ANPEP:NM_001150:exon13:c.A1829G:p.D610G,ANPEP:NM_001381923:exon13:c.A1829G:p.D610G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0150859197313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.301	0.20293	T	0.01	0.15535	B	0.021	0.19346	B	0.006281	0.01118	N	3.219780	1	0.08975	N	2.725	0.79712	M	1.36	0.34452	T	-1.47	0.35991	N	0.072	0.04547	-1.0286	0.20908	T	0.081	0.32060	T	10	0.091451645	0.16022	T	0.015086	0.35618	T	0.034	0.08419	0.37	0.38013	0.16115917748	0.15686	0.5950019049471973	0.59430	0.328683231813	0.34977	0.229684084654	0.01945	T	0.440936	0.78566	T	-0.284799	0.10166	T	-0.64687	0.09175	T	0.15104848358265	0.17187	T	0.141086	0.01136	T	0.2916211	0.52143	0.1961976	0.43337	0.2916211	0.52143	0.1961976	0.43336	-4.246	0.27412	T	.	.	0.089	0.12371	B	.	.	-1.582606	0.00249	0.004	0.85400696167369605	0.15870	0.09724	0.15415	N	AEFDGBCI	0.263897	0.38135	N	-1.4873356306073	0.01939	0.08511473	-1.61632648822106	0.01559	0.07066436	0.999999953715474	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.71	-6.89	0.01501	-2.217000	0.01304	-6.198000	0.01467	-2.344000	0.00310	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4403:0.5597	13.978	0.63797	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1010.33	36	chr15	89799550	.	T	C	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.458;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	18	0	1	0
chr15	89803683	89803683	C	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon7:c.G1401C:p.Q467H,ANPEP:NM_001150:exon8:c.G1401C:p.Q467H,ANPEP:NM_001381923:exon8:c.G1401C:p.Q467H	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0388813148285	0.0002	.	0.0007	9.621e-05	0	0	0	9.022e-05	0	0.0048	0.0005757	89	154602	rs148567888	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0037	0.0035	5.975e-05	4.479e-05	0	0	0	0.0049	3.059e-05	0.0004	0.0040	9.847e-05	9.841e-05	5.139e-05	0.0001	0.0017	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0.0034	7.351e-05	0	0.0017	0.003	0.68238	D	0.007	0.69154	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.62929	D	0.058208	0.997352	0.43821	D	2.285	0.65182	M	4.04	0.03121	T	-3.74	0.71042	D	0.558	0.58287	-1.1521	0.00963	T	0.047	0.20156	T	10	0.030548751	0.01182	T	0.038881	0.58482	D	0.238	0.54217	0.722	0.85673	0.668779650676	0.66598	0.5962080685427351	0.59550	0.515275590241	0.49436	0.525485098362	0.42399	T	0.316855	0.68835	T	-0.450992	0.01115	T	-0.420054	0.31070	T	0.153436396995055	0.17374	T	0.909909	0.68110	D	0.85339373	0.87587	0.7185164	0.83383	0.85339373	0.87589	0.7185164	0.83384	-11.234	0.80925	D	.	.	0.751	0.75084	P	.	.	3.927271	0.57374	23.8	0.99329090538237697	0.59700	0.87594	0.47185	D	AEFDBCI	0.729194	0.67698	D	0.444055843295137	0.63867	4.628875	0.328695120608168	0.57233	3.888242	0.999999954105724	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	1.832000	0.38791	3.295000	0.37336	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:1.0:0.0:0.0	14.853	0.69946	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	4470.83	37	chr15	89803683	.	C	G	4470.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.5;DP=1018;ExcessHet=0.119;FS=1.68;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.292;SOR=0.788	GT:AD:DP:GQ:PL	0/1:104,106:210:99:2783,0,2744	17	0	2	0
chr15	89805104	89805104	C	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.G871A:p.E291K,ANPEP:NM_001150:exon4:c.G871A:p.E291K,ANPEP:NM_001381923:exon4:c.G871A:p.E291K	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00339457	0.0023	0	8.637e-05	0.0035	0	2.997e-05	0.0011	0.0147	0.0019728	305	154602	rs138545632	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0009	0.0130	0.0128	0.0001	6.708e-05	3.826e-05	0.0015	0	0.0005	2.338e-05	0.0015	0.0137	0.0006	0.0006	0.0003	0.0010	0.0174	0.0005	0.0005	0.0144	0.0133	2.404e-05	0	0	0	0.0025	0	0	0	0	0.0174	0.039	0.42487	D	0.26	0.23029	T	0.097	0.25541	B	0.082	0.29098	B	0.842211	0.09025	N	0.932048	1	0.08975	N	2.215	0.62545	M	4.08	0.03003	T	-1.57	0.37955	N	0.188	0.20528	-0.9935	0.31696	T	0.017	0.06759	T	10	0.0040177405	0.00078	T	.	.	.	0.045	0.12272	.	.	0.335661160332	0.33175	0.6516242948920506	0.65098	0.292576888637	0.31676	0.359996348619	0.19385	T	0.248878	0.61875	T	-0.641124	0.00082	T	-0.68203	0.06860	T	0.0234884346217938	0.01082	T	0.474753	0.14169	T	0.39907125	0.60668	0.30897304	0.56913	0.39907125	0.60668	0.30897304	0.56912	-7.778	0.59547	D	.	.	0.154	0.34004	B	.	.	-0.482656	0.01923	0.162	0.98056708188241037	0.37913	0.12782	0.17476	N	AEFGBCI	0.267519	0.38421	N	-1.14640182039963	0.05839	0.2672527	-1.2848983995165	0.04634	0.2190365	0.998436559116334	0.36959	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.08	-2.66	0.05721	-3.233000	0.00605	-5.564000	0.01673	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3846:0.3583:0.257	6.176	0.19657	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1423.33	34	chr15	89805104	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=751;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.306;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1286	18	0	1	0
chr15	90225321	90225321	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon10:c.G1031A:p.R344Q,SEMA4B:NM_001324030:exon11:c.G977A:p.R326Q,SEMA4B:NM_001324032:exon11:c.G1445A:p.R482Q,SEMA4B:NM_001324034:exon11:c.G1445A:p.R482Q,SEMA4B:NM_198925:exon11:c.G1445A:p.R482Q,SEMA4B:NM_001324031:exon12:c.G1604A:p.R535Q,SEMA4B:NM_001324033:exon12:c.G977A:p.R326Q,SEMA4B:NM_020210:exon12:c.G1445A:p.R482Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	2336523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00761419682404	8e-05	0.000199681	0.0004	0	0	0	0	0.0009	0	0.0001	0.00011	17	154602	rs199675454	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.123e-05	2.744e-05	0.0006	0	0	0	0.0002	8.577e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	7.218e-05	0	0.0001	0.0009	0.0002	0	0	0.0002	0.0009	0.0002	0.449	0.09022	T	0.48	0.11899	T	.	.	.	.	.	.	0.988364	0.08047	N	0.991862	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.21	0.10308	N	0.113	0.10056	-1.0197	0.23812	T	0.035	0.15030	T	10	0.009755969	0.00219	T	0.007614	0.20192	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.23644852402465752	0.23559	0.271436993991	0.29665	0.229855895042	0.01957	T	0.002417	0.01807	T	-0.475043	0.00791	T	-0.623951	0.10878	T	0.0117027033120674	0.00179	T	0.839416	0.51368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02639	B	.;.	.;.	1.008094	0.13867	10.42	0.88795161504369402	0.18262	0.12602	0.17368	N	AEFDBCI	0.064849	0.12615	N	-1.30386563124327	0.03631	0.1625291	-1.36788052541032	0.03599	0.1682367	0.999993026936802	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.37	-4.09	0.03685	-0.014000	0.12594	0.138000	0.15134	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.5068:0.1118:0.2673:0.114	3.467	0.07120	579	0.69780	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.001370	0.002994	0.000000	0.000000	0.000000	0.000000	0.02632	630.33	39	chr15	90225321	.	G	A	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=823;ExcessHet=0;FS=9.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.2;SOR=1.322	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1420	18	0	1	0
chr15	90228014	90228014	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon13:c.G1471A:p.V491I,SEMA4B:NM_001324030:exon14:c.G1417A:p.V473I,SEMA4B:NM_001324034:exon14:c.G1915A:p.V639I,SEMA4B:NM_198925:exon14:c.G1885A:p.V629I,SEMA4B:NM_001324031:exon15:c.G2044A:p.V682I,SEMA4B:NM_001324033:exon15:c.G1417A:p.V473I,SEMA4B:NM_020210:exon15:c.G1885A:p.V629I	.	.	.	.	.	.	.	.	.	.	.	3321230	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00426838143777	.	.	1.683e-05	0	8.77e-05	0	0	0	0	6.118e-05	1.29e-05	2	154602	rs759137292	2.6e-05	2.599e-05	2.587e-05	2.613e-05	0.0001	1.933e-05	1.692e-05	4.359e-05	2.767e-05	0	0.0001	0	2.519e-05	0	0	2.518e-05	3.313e-05	2.319e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	1.032e-05	7.238e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.601	0.05618	T	0.645	0.06859	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	0.2	0.04861	N	0.049	0.02088	-0.9671	0.37794	T	0.020	0.08407	T	9	0.021473348	0.00514	T	0.004268	0.10341	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.14177077545769204	0.14100	0.185051502145	0.20798	0.290869683027	0.09049	T	0.003298	0.02708	T	-0.48016	0.00737	T	-0.701791	0.05728	T	0.0192174455248797	0.00628	T	0.60194	0.22516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04681	B	.;.	.;.	0.233055	0.06140	2.587	0.78508849431245731	0.12331	0.05828	0.11769	N	AEFBCI	0.050830	0.08921	N	-1.72089199047965	0.00770	0.03327126	-1.76235956992807	0.00887	0.03966879	0.999984154646583	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.19	-6.72	0.01591	0.049000	0.13983	-0.029000	0.12820	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.181000	0.21328	0.4879:0.1748:0.3373:0.0	8.770	0.33887	577	0.69927	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2014.33	197	chr15	90228014	.	G	A	2014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=1419;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.977;SOR=0.745	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr15	90231459	90231459	C	T	exonic	CIB1	.	nonsynonymous SNV	CIB1:NM_001277764:exon4:c.G364A:p.A122T,CIB1:NM_006384:exon4:c.G244A:p.A82T	.	421	1097	4	0	0	4	0.00181984	.	.	YES	1157572	not_provided|CIB1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00519169	0.0035	0	0.0003	0.0002	0	0	0.0011	0.0250	0.0029624	458	154602	rs562237879	0.0015	0.0015	0.0008	0.0022	0.0240	0.0015	0.0014	0.0232	0.0228	2.987e-05	2.236e-05	0	0	0	0.0019	1.439e-05	0.0018	0.0240	0.0008	0.0008	0.0003	0.0013	0.0250	0.0007	0.0007	0.0214	0.0200	0	0	6.536e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0250	0.748	0.03609	T	0.439	0.13365	T	0.0	0.02946	B	0.0	0.01387	B	0.139973	0.02877	N	1.677480	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-0.08	0.08187	N	0.13	0.16447	-0.9823	0.34468	T	0.018	0.07565	T	10	0.0018526614	0.00025	T	.	.	.	0.098	0.28162	0.27	0.21893	0.104622674875	0.10061	0.2278705604284973	0.22702	0.155556298816	0.17554	0.26748585701	0.05815	T	0.134338	0.46552	T	-0.773564	0.00012	T	-0.865694	0.00784	T	0.0076744546124589	0.00089	T	0.148285	0.01234	T	0.10853205	0.25661	0.092734426	0.21870	0.10853205	0.25661	0.092734426	0.21869	-3.041	0.11022	T	.	.	0.067	0.02488	B	.;.	.;.	0.042038	0.04581	1.258	0.84514030562110309	0.15336	0.03839	0.09189	N	ALL	0.106545	0.21255	N	-1.43471751007714	0.02340	0.1031962	-1.46088107625463	0.02673	0.1233793	0.999999960542485	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.63	-4.86	0.02902	-3.285000	0.00583	-0.717000	0.07722	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.5997:0.0:0.4003	15.273	0.73416	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	698.33	36	chr15	90231459	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=1.34;SOR=0.662	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr15	90265732	90265732	T	C	exonic	NGRN	.	nonsynonymous SNV	NGRN:NM_001033088:exon1:c.T20C:p.L7P	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	.	0.00239617	0.0011	0	0	0.0123	0.0006	0.0002	0.0024	0.0001	0.0009638	149	154602	rs182240673	0.0004	0.0004	0.0004	0.0004	0.0098	0.0003	0.0003	0.0090	0.0087	0	0	0	0.0098	0.0005	0.0007	5.846e-05	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0124	0.0004	0.0004	0.0099	0.0090	0	0	6.532e-05	0	0.0124	0.0003	0	0.0001	0.0009	0.0004	0.132	0.26519	T	0.006	0.70582	D	0.145	0.27759	B	0.123	0.32463	B	1.000000	0.07966	U	0.071793	1	0.08975	N	1.845	0.48678	L	0.66	0.52416	T	-0.66	0.19085	N	0.568	0.59138	-1.0050	0.28457	T	0.050	0.21143	T	10	0.006096393	0.00137	T	.	.	.	0.146	0.38789	.	.	0.277317399466	0.27352	0.5698972402654141	0.56917	0.330495264886	0.35125	0.474918931723	0.35358	T	0.03556	0.23766	T	-0.409458	0.02004	T	-0.349258	0.39290	T	0.0746974159033111	0.09294	T	0.365463	0.08501	T	0.18486446	0.39822	0.22051172	0.46829	0.18486446	0.39822	0.22051172	0.46828	-5.212	0.39064	T	.	.	0.155	0.34272	B	.	.	1.813636	0.23047	15.86	0.72414416083039179	0.09965	0.05681	0.11599	N	ALL	0.128811	0.24674	N	-0.977329585081941	0.09089	0.4287625	-1.02854528793713	0.09160	0.4541956	0.999999999999769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.3	0.521	0.16244	0.087000	0.14801	0.273000	0.16680	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1821:0.103:0.1892:0.5257	1.252	0.01865	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1127.33	38	chr15	90265732	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=749;ExcessHet=0;FS=1.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.423;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	18	0	1	0
chr15	90358865	90358865	G	C	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon3:c.G119C:p.S40T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00242934934664	0.0007	0.00159744	0.0002	0.0021	0	0	0	0	0	6.105e-05	0.0002005	31	154602	rs146829380	7.804e-05	7.798e-05	7.901e-05	7.706e-05	0.0029	6.604e-05	6.146e-05	0.0025	0.0023	0.0029	4.475e-05	0	0	0	0	8.998e-07	0.0001	5.797e-05	0.0007	0.0008	0.0007	0.0008	0.0027	0.0006	0.0006	0.0023	0.0022	0.0027	0	0	0	0	0	0	0	0	0	0.513	0.34800	T	0.464	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.236518	0.15806	U	0.470224	1	0.08975	N	1.04	0.26193	L	1.47	0.31987	T	-0.25	0.43334	N	0.068	0.04790	-1.0492	0.14621	T	0.040	0.17191	T	10	0.0030587316	0.00050	T	0.002429	0.04785	T	0.026	0.05648	.	.	0.0297737177859	0.01360	0.054903227773488404	0.05431	0.0389784565484	0.04147	0.248176261783	0.03579	T	0.001285	0.00766	T	-0.637093	0.00087	T	-0.691595	0.06297	T	0.00775837792465107	0.00091	T	0.506149	0.18877	T	0.03833489	0.05086	0.04973991	0.07664	0.03833489	0.05086	0.04973991	0.07663	-4.018	0.24072	T	.	.	0.082	0.08609	B	.;.;.	.;.;.	2.070908	0.26338	17.08	0.28718711043943229	0.01488	0.02997	0.07858	N	AEFDBHCI	0.040612	0.06065	N	-0.867749778651212	0.11616	0.5615293	-0.886981140174618	0.12402	0.6377195	0.964744781590099	0.28782	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	4.59	2.52	0.29514	0.291000	0.18748	0.920000	0.22697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.603000	0.31463	0.0972:0.1612:0.7416:0.0	9.299	0.36994	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	843.33	33	chr15	90358865	.	G	C	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.77;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr15	90360088	90360088	C	T	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.C257T:p.T86I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00412910292976	0.0008	0.00119808	0.0003	0.0032	0.0002	0	0	3.001e-05	0	0	0.0002781	43	154602	rs116083162	0.0001	0.0001	0.0001	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0002	0	0	0	0	8.994e-06	0.0001	0	0.0010	0.0010	0.0010	0.0010	0.0035	0.0009	0.0008	0.0030	0.0029	0.0035	0	0.0002	0	0	0	0	0	0.0009	0	0.264	0.16358	T	0.175	0.29945	T	0.0	0.02946	B	0.001	0.04355	B	0.202307	0.16569	N	0.437109	1	0.08975	N	0.83	0.20963	L	1.55	0.29866	T	-0.87	0.23590	N	0.032	0.00825	-1.0199	0.23747	T	0.017	0.07092	T	10	0.0037568212	0.00070	T	0.004129	0.09900	T	0.052	0.14661	.	.	0.185906805712	0.18197	0.26548391015744066	0.26461	0.0433540825785	0.04671	0.332596421242	0.15327	T	0.005674	0.05119	T	-0.673726	0.00052	T	-0.743273	0.03754	T	0.00331059606962131	0.00035	T	0.177782	0.01744	T	0.036403343	0.04471	0.046209574	0.06388	0.036403343	0.04471	0.046209574	0.06388	-3.985	0.23578	T	.	.	0.085	0.09965	B	.	.	0.769838	0.11396	8.010	0.94875027093898134	0.25701	0.06325	0.12322	N	AEFDBI	0.042888	0.06711	N	-0.86417514828486	0.11703	0.566223	-0.723879191240291	0.16367	0.8654708	0.0158129700340649	0.12758	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.97	1.79	0.23992	-1.956000	0.01613	-1.483000	0.05337	0.433000	0.20966	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1735:0.4722:0.1682:0.1861	1.547	0.02411	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	39	chr15	90360088	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=940;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.067;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1272:.	18	0	1	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.008152	0.002924	0.000000	0.008621	0.015244	0.000000	0.02632	1879.33	39	chr15	90360750	.	A	G	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=825;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-1.099;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	18	0	1	0
chr15	90390824	90390824	C	T	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon2:c.C106T:p.R36C	.	.	.	.	.	.	.	.	.	.	.	2236999	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0626335681049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384528019	8.898e-06	8.893e-06	1.09e-05	6.88e-06	2.988e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	2.988e-05	0	0	0	0	0	8.999e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.999	0.77913	D	0.802	0.58266	P	0.003838	0.34438	N	0.250639	0.999999	0.58761	D	2.455	0.71248	M	0.89	0.45636	T	-4.68	0.79659	D	0.488	0.52208	-0.9044	0.47515	T	0.172	0.51452	T	10	0.40112016	0.56404	T	0.062634	0.68714	D	0.254	0.56428	0.472	0.54699	0.574529387191	0.57120	0.356582139965324	0.35572	0.369645273994	0.38492	0.70258307457	0.67517	T	0.782306	0.94264	D	-0.0565469	0.43446	T	-0.222148	0.52530	T	0.98808228969574	0.78467	D	0.993351	0.97826	D	0.5621969	0.70631	0.29132807	0.55157	0.5621969	0.70632	0.29132807	0.55156	-11.053	0.79948	D	.	.	0.207	0.43297	B	.;.	.;.	4.842486	0.79077	27.0	0.99596889522218934	0.73983	0.91009	0.52683	D	AEFDBIJ	0.455904	0.50799	N	0.373892311135368	0.60012	4.185635	0.328735554214837	0.57233	3.888488	0.999996691619527	0.74766	0.722319	0.85440	0	0.581341	0.33841	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	4.73	3.79	0.42757	3.767000	0.54998	4.775000	0.44799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.1771:0.8229:0.0:0.0	11.779	0.51271	831	0.39019	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1155.33	33	chr15	90390824	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.785;DP=729;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.874;SOR=0.81	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1339	18	0	1	0
chr15	90769505	90769505	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon12:c.C2474T:p.P825L,BLM:NM_001287247:exon12:c.C2474T:p.P825L,BLM:NM_001287248:exon12:c.C1349T:p.P450L,BLM:NM_001287246:exon13:c.C2474T:p.P825L	Bloom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	400983	not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Bloom_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0636853690863	.	.	4.12e-05	0	0	0	0	5.996e-05	0	6.056e-05	3.23e-05	5	154602	rs749632465	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0002	1.803e-05	1.6e-05	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0.0002	2.338e-05	4.968e-05	1.159e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.84330	D	0.054494	1	0.81001	D	3.24	0.89678	M	2.41	0.15492	T	-8.37	0.97087	D	0.854	0.85027	-0.6329	0.63447	T	0.171	0.51293	T	10	0.8608711	0.85306	D	0.063685	0.69044	D	0.329	0.65126	.	.	0.831145112128	0.82953	0.8372091313085488	0.83680	0.479658001156	0.46996	0.727011144161	0.71069	T	0.388927	0.74948	T	-0.0165491	0.49344	T	-0.131097	0.60879	T	0.975805103778839	0.71096	D	0.983102	0.97691	D	0.9338384	0.94622	0.8685899	0.92768	0.9338384	0.94623	0.8685899	0.92768	-14.521	0.94627	D	0.4221204629195687	0.51072	0.642	0.70605	P	.;.	.;.	5.519553	0.91765	32	0.99894231200239758	0.96742	0.98820	0.87283	D	AEFDBIJ	0.590674	0.58707	D	0.818543524565271	0.87252	9.153839	0.735556876441471	0.85073	8.473413	0.999999557095449	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.16	5.16	0.70563	4.782000	0.62089	7.572000	0.60737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:1.0:0.0:0.0	16.146	0.81376	616	0.66398	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	36	chr15	90769505	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.021;DP=740;ExcessHet=0;FS=8.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.47;SOR=0.202	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	18	0	1	0
chr15	90887322	90887322	G	A	exonic	FES	.	nonsynonymous SNV	FES:NM_001143783:exon3:c.G446A:p.G149D,FES:NM_001143784:exon4:c.G620A:p.G207D,FES:NM_001143785:exon4:c.G446A:p.G149D,FES:NM_002005:exon5:c.G620A:p.G207D	.	10	1505	7	0	0	7	0.00232019	.	.	.	2672650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00557195508323	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0003	0.00011	17	154602	rs377603197	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	6.711e-05	0.0008	0	0	0.0017	0.0001	0.0001	0.0004	8.532e-05	8.529e-05	7.707e-05	9.393e-05	0.0010	4.951e-05	3.958e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	5.88e-05	0	0.0010	0.195	0.35537	T	0.574	0.30631	T	0.079	0.62325	B	0.093	0.60272	B	0.242729	0.15677	N	0.636697	0.927117	0.36855	D	1.32	0.33002	L	2.7	0.12162	T	-1.86	0.50502	N	0.463	0.50508	-1.1169	0.02538	T	0.059	0.24686	T	10	0.05410236	0.05708	T	0.005572	0.14379	T	0.108	0.30607	.	.	0.715097462828	0.71260	0.39928732968707553	0.39843	0.425264088021	0.42939	0.406227648258	0.25934	T	0.365703	0.73108	T	-0.298432	0.08808	T	-0.374305	0.36385	T	0.0408774667944681	0.03849	T	0.926607	0.73561	D	0.23619127	0.46465	0.23424904	0.48637	0.23619127	0.46465	0.23424904	0.48636	-7.772	0.72736	D	.	.	0.145	0.39047	B	.;.;.;.;.	.;.;.;.;.	2.461489	0.31708	18.82	0.99537419757666457	0.70274	0.40149	0.26372	N	AEFBCI	0.295716	0.40576	N	-0.279318245396713	0.29948	1.665364	-0.341007846141006	0.26789	1.481966	0.999987417205556	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	0.724000	0.25624	7.378000	0.58437	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.139000	0.19909	0.0:0.1676:0.8323:0.0	12.454	0.55033	688	0.59122	F-BAR domain;.;F-BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1472.33	54	chr15	90887322	.	G	A	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.483;DP=936;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.664;SOR=0.602	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr15	90906007	90906007	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon5:c.C698T:p.A233V,MAN2A2:NM_001320977:exon6:c.C698T:p.A233V	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0166315155132	0.0009	0.00119808	0.0002	0.0022	0	0	0	0	0	0	0.0001811	28	154602	rs151089946	5.884e-05	5.883e-05	7.08e-05	4.676e-05	0.0022	4.877e-05	4.497e-05	0.0018	0.0016	0.0022	6.708e-05	0	0	0	0	0	0.0001	1.159e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0001	0	0	0	0	0	0.0005	0	0.214	0.19361	T	0.326	0.18789	T	0.006	0.13644	B	0.035	0.22741	B	0.000119	0.50451	D	0.207005	0.999901	0.50806	D	1.125	0.28843	L	1.88	0.23884	T	-1.54	0.37375	N	0.257	0.29197	-1.0857	0.06281	T	0.053	0.22617	T	10	0.011112183	0.00244	T	0.016632	0.37977	T	0.072	0.21020	.	.	0.304435445954	0.30045	0.5555773336815019	0.55484	0.281062327463	0.30577	0.537191271782	0.44049	T	0.271495	0.64383	T	-0.503453	0.00547	T	-0.49963	0.22385	T	0.0486244403334804	0.05255	T	0.878912	0.59457	D	0.14026335	0.32367	0.2030642	0.44364	0.14026335	0.32367	0.2030642	0.44363	-7.349	0.56544	T	.	.	0.119	0.24566	B	.;.	.;.	4.596891	0.72769	25.9	0.99673975934686687	0.78782	0.86801	0.46162	D	AEFDBCI	0.245515	0.36644	N	-0.193829363586934	0.33391	1.893824	0.00880810877488139	0.40123	2.389543	0.999999949722639	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	1.861000	0.39078	4.788000	0.44881	0.599000	0.40250	0.905000	0.31549	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	19.576	0.95436	643	0.63827	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1006.33	40	chr15	90906007	.	C	T	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.127;DP=777;ExcessHet=0;FS=3.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.827;SOR=0.396	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1315	18	0	1	0
chr15	90912943	90912943	G	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon17:c.G2536T:p.A846S,MAN2A2:NM_001320977:exon18:c.G2536T:p.A846S	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0042	0.00299521	0.0010	0.0102	0.0003	0	0	9.002e-05	0.0022	6.07e-05	0.0009444	146	154602	rs1266491	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0089	0.0101	0.0005	0	0	0	0.0033	3.058e-05	0.0007	4.637e-05	0.0025	0.0025	0.0026	0.0024	0.0089	0.0023	0.0022	0.0081	0.0078	0.0089	0	0.0008	0	0	0	0.0068	2.94e-05	0.0014	0	0.109	0.29288	T	0.8	0.04066	T	0.0	0.02946	B	0.003	0.08700	B	0.031402	0.25171	N	0.466449	1	0.08975	N	0.46	0.12951	N	-1.16	0.78082	T	-1.2	0.30555	N	0.121	0.11197	-0.8830	0.49521	T	0.144	0.46660	T	10	0.00473845	0.00100	T	.	.	.	0.114	0.32008	.	.	0.596734631435	0.59352	0.3515260220359136	0.35066	0.255935984705	0.28173	0.262064427137	0.05139	T	0.208242	0.56812	T	-0.403401	0.02199	T	-0.342839	0.40022	T	0.00181455922053344	0.00018	T	0.865813	0.56549	D	0.045215204	0.07362	0.056607004	0.10144	0.045215204	0.07362	0.056607004	0.10144	-3.237	0.12938	T	.	.	0.093	0.13969	B	.;.;.	.;.;.	0.752134	0.11215	7.851	0.88292371741457643	0.17863	0.21939	0.21576	N	AEFBCI	0.138947	0.26039	N	-0.756250797884247	0.14464	0.7207051	-0.756250723328174	0.15569	0.8194656	0.996745359576878	0.34974	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.02	3.15	0.35301	0.582000	0.23535	4.732000	0.44559	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.340000	0.25432	0.2575:0.0:0.587:0.1556	4.624	0.11857	635	0.64580	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1467.33	43	chr15	90912943	.	G	T	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.198;DP=885;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-1.458;SOR=0.64	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr15	90918341	90918341	C	A	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon21:c.C3142A:p.L1048M,MAN2A2:NM_001320977:exon23:c.C3217A:p.L1073M	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	.	0.0007	0.0071885	0.0024	9.61e-05	0	0.0284	0	0.0004	0	0.0010	0.0023027	356	154602	rs140227601	0.0009	0.0009	0.0009	0.0009	0.0223	0.0008	0.0008	0.0210	0.0206	5.974e-05	2.236e-05	0.0039	0.0223	0	0.0007	8.993e-05	0.0016	0.0010	0.0013	0.0013	0.0011	0.0014	0.0295	0.0011	0.0011	0.0257	0.0243	2.405e-05	0	0.0001	0.0026	0.0295	0	0.0034	0.0002	0	0.0025	0.098	0.30943	T	0.091	0.40110	T	0.831	0.46109	P	0.787	0.57594	P	0.000134	0.49741	D	0.139082	0.998891	0.53665	D	2.19	0.61577	M	-1.6	0.82165	D	-1.29	0.32387	N	0.318	0.36148	-0.2401	0.76623	T	0.357	0.71990	T	10	0.012439787	0.00267	T	.	.	.	0.544	0.81018	.	.	0.707640098894	0.70509	0.5975722823008083	0.59688	0.828146683794	0.67508	0.506752610207	0.39769	T	0.426443	0.77624	T	-0.343375	0.05158	T	-0.240944	0.50707	T	0.0597494535149721	0.07129	T	0.822218	0.51943	T	0.07132041	0.15781	0.07037245	0.14942	0.07132041	0.15780	0.07037245	0.14942	-9.746	0.72377	D	.	.	0.134	0.29172	B	.;.;.	.;.;.	1.500348	0.19289	14.19	0.99109453079761467	0.52674	0.40352	0.26417	N	AEFDGBCI	0.254813	0.37406	N	-0.273517749702485	0.30175	1.680062	-0.430843072838145	0.24097	1.317694	0.999996560637753	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	1.56	0.22423	-0.112000	0.10762	1.030000	0.23473	-0.186000	0.09761	0.000000	0.06391	0.473000	0.25062	0.413000	0.27073	0.0:0.6685:0.124:0.2075	7.126	0.24651	626	0.65439	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.02632	1286.33	33	chr15	90918341	.	C	A	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.105;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	1	0
chr15	92104419	92104419	G	A	exonic	SLCO3A1	.	nonsynonymous SNV	SLCO3A1:NM_001145044:exon4:c.G886A:p.A296T,SLCO3A1:NM_013272:exon4:c.G886A:p.A296T	.	430	1090	2	0	0	2	0.00091659	.	.	.	2443263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0199464698356	7.7e-05	.	0.0001	0.0002	8.643e-05	0	0	7.492e-05	0	0.0003	9.7e-05	15	154602	rs367922921	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0012	3.047e-05	2.783e-05	0.0006	0.0004	2.987e-05	0	0	0	0	0.0012	2.428e-05	4.967e-05	0.0002	1.315e-05	1.313e-05	0	2.692e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.428	0.09746	T	0.635	0.08332	T	0.02	0.22112	B	0.015	0.17295	B	0.111764	0.19386	N	0.546616	0.853248	0.28465	N	0.305	0.10234	N	-1.41	0.80560	T	-0.26	0.12283	N	0.054	0.08366	-0.9626	0.38684	T	0.202	0.55850	T	10	0.03207791	0.01353	T	0.019946	0.42439	T	0.115	0.32236	.	.	0.24933006939	0.24537	0.16173888559776467	0.16094	0.369780222352	0.38505	0.405779033899	0.25872	T	0.038127	0.24728	T	-0.31546	0.07275	T	-0.398764	0.33527	T	0.0179559106239015	0.00521	T	0.684632	0.29288	T	0.04674703	0.07878	0.06963069	0.14694	0.04674703	0.07877	0.06963069	0.14694	-4.036	0.24341	T	.	.	0.067	0.02428	B	.;.	.;.	2.037894	0.25901	16.93	0.99082144348632051	0.52002	0.34194	0.25009	N	AEFDBCI	0.108044	0.21506	N	-0.637224599764191	0.17834	0.9210882	-0.493744493204783	0.22325	1.21205	0.837315888856504	0.24803	0.758104	0.99027	0	0.547309	0.14657	0	0.691618	0.62860	0	0.564101	0.26826	0	.	.	5.31	1.98	0.25351	1.564000	0.35983	1.737000	0.28371	0.676000	0.76740	0.164000	0.23853	0.941000	0.28781	0.999000	0.91618	0.3549:0.0:0.4911:0.154	4.469	0.11122	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2200.33	38	chr15	92104419	.	G	A	2200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=1077;ExcessHet=0;FS=0.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.137;SOR=0.617	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	415.99	37	chr15	92630239	.	A	G	415.99	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.793;DP=1519;ExcessHet=0.7564;FS=157.988;InbreedingCoeff=-0.2064;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.776;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1445:.	10	0	4	5
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:58,0:58:0:.:.:0,0,962:.	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:58,0:58:0:.:.:0,0,962:.	3	0	5	11
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1763.55	134	chr15	92630245	.	C	G	1763.55	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-3.598;DP=1693;ExcessHet=0.3672;FS=355.6;InbreedingCoeff=-0.23;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=1.61;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:87,0:87:0:.:.:0,0,1859:.	8	0	3	8
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1884.22	103	chr15	92630248	.	C	G	1884.22	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.249;DP=1430;ExcessHet=0.3672;FS=362.549;InbreedingCoeff=-0.3571;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=0.973;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:67,0:67:0:.:.:0,0,1285:.	2	0	3	14
chr15	92630251	92630251	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G439A:p.E147K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0657453982676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.014	0.62352	D	0.939	0.52645	P	0.579	0.50152	P	0.000897	0.41231	D	0.159409	0.663107	0.52396	D	2.215	0.62545	M	0.5	0.55608	T	-3.36	0.66549	D	0.567	0.59053	-0.2870	0.75348	T	0.317	0.68629	T	10	0.6110569	0.67446	D	0.065745	0.69670	D	0.249	0.55752	0.538	0.64874	0.0806252709748	0.07271	0.5044295358613299	0.50364	1.13977541105	0.78881	0.576099395752	0.49536	T	0.072488	0.34467	T	0.00226496	0.51966	T	-0.234523	0.51332	T	0.989400923252106	0.79642	D	0.931007	0.74365	D	0.3660051	0.58288	0.32321736	0.58255	0.3660051	0.58289	0.32321736	0.58254	-12.163	0.85636	D	.	.	0.540	0.66364	A	.	.	5.085761	0.84900	28.4	0.98668534088134341	0.44442	0.86267	0.45514	D	AEFGBHCI	0.824876	0.74468	D	0.469250708575804	0.65304	4.805603	0.532037325251832	0.70157	5.464143	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1828.93	136	chr15	92630251	.	C	T	1828.93	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-4.239;DP=1508;ExcessHet=0;FS=285.191;InbreedingCoeff=-0.1174;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=3.24;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:10:.:.:0,10,2017:.	13	0	1	5
chr15	92630254	92630254	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0239686996981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.026	0.55759	D	0.997	0.70673	D	0.918	0.65394	D	0.000036	0.55875	D	0.068504	0.997075	0.43612	D	2.31	0.66127	M	-0.25	0.67011	T	-3.85	0.72353	D	0.644	0.65587	-0.8108	0.54502	T	0.217	0.57902	T	10	0.70807624	0.72866	D	0.023969	0.46950	T	0.333	0.65522	0.492	0.57890	0.126345400529	0.12197	0.6364352983231589	0.63577	1.12360715339	0.78375	0.610536158085	0.54391	T	0.171364	0.51947	T	-0.00291733	0.51252	T	-0.241967	0.50606	T	0.994988739490509	0.86633	D	0.926807	0.73035	D	0.28633583	0.51650	0.23901767	0.49240	0.28633583	0.51650	0.23901767	0.49239	-7.127	0.54955	T	.	.	0.244	0.47859	B	.	.	4.708179	0.75603	26.4	0.98500546622593532	0.42216	0.79868	0.39664	D	AEFGBHCI	0.699485	0.65681	D	0.424550699294709	0.62776	4.499147	0.479078087077324	0.66606	4.973943	0.99999999999994	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	5.330000	0.65675	5.751000	0.49627	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1627:0.8373:0.0:0.0	12.920	0.57621	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	1858.07	36	chr15	92630254	.	C	T	1858.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.927;DP=1441;ExcessHet=0;FS=292.902;InbreedingCoeff=-0.0876;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=3.28;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:26:.:.:0,26,2026:.	14	0	1	4
chr15	92944453	92944453	A	G	exonic	CHD2	.	nonsynonymous SNV	CHD2:NM_001042572:exon10:c.A1091G:p.N364S,CHD2:NM_001271:exon10:c.A1091G:p.N364S	Epileptic encephalopathy, childhood-onset, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	208238	Developmental_and_epileptic_encephalopathy_94|not_specified|CHD2-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014150,MedGen:C3809278,OMIM:615369,Orphanet:1942,Orphanet:2382|MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.0192141080012	0.0006	.	0.0003	0.0004	8.654e-05	0	0	0.0004	0	6.106e-05	0.0002781	43	154602	rs143043614	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0.0002	3.843e-05	0.0001	5.634e-05	0.0005	0.0003	0.0001	8.134e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0001	0	0.0002	0	0	0.0005	0	0	0.155	0.24183	T	0.171	0.31326	T	0.027	0.19556	B	0.01	0.14941	B	0.002345	0.36727	U	0.000000	0.97626	0.41601	D	2.215	0.62545	M	-0.62	0.71895	T	-1.88	0.50992	N	0.108	0.25622	-0.7768	0.56481	T	0.261	0.63208	T	10	0.12121746	0.22975	T	0.019214	0.41510	T	0.119	0.33137	.	.	0.721469051939	0.71901	0.3221108858567703	0.32124	0.377517448333	0.39182	0.497993409634	0.38548	T	0.199066	0.55624	T	-0.419708	0.01718	T	-0.482077	0.24225	T	0.0165791890467952	0.00419	T	0.939006	0.77145	D	0.0368888	0.04625	0.055732854	0.09829	0.0368888	0.04625	0.055732854	0.09828	-7.616	0.58457	D	0.27661135701400325	0.37121	0.075	0.20274	B	.;.;.;.;.;.	.;.;.;.;.;.	2.622846	0.34091	19.53	0.98674616905874324	0.44525	0.98275	0.81167	D	AEFBI	0.465740	0.51368	N	-0.146872104399307	0.35367	2.030579	-0.0288330759502756	0.38419	2.263158	0.998770578572072	0.37645	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	3.01	0.33872	4.158000	0.57932	3.596000	0.39206	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.7951:0.0:0.2049:0.0	8.615	0.32988	949	0.11373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	937.33	34	chr15	92944453	.	A	G	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.12;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr15	93206248	93206248	T	C	exonic	LOC105370980	.	nonsynonymous SNV	LOC105370980:NM_001365393:exon1:c.T55C:p.C19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000856831225229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	35.4	.	chr15	93206248	.	T	C	35.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	0	1	10
chr15	94298471	94298471	C	G	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385001:exon2:c.C206G:p.S69C,MCTP2:NM_001385003:exon2:c.C206G:p.S69C,MCTP2:NM_001385004:exon2:c.C206G:p.S69C,MCTP2:NM_001385005:exon2:c.C206G:p.S69C,MCTP2:NM_001385006:exon2:c.C206G:p.S69C,MCTP2:NM_001385008:exon2:c.C206G:p.S69C,MCTP2:NM_001159643:exon3:c.C206G:p.S69C,MCTP2:NM_001385002:exon3:c.C206G:p.S69C,MCTP2:NM_018349:exon3:c.C206G:p.S69C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0367664904906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.59928	D	0.019	0.59159	D	0.994	0.68779	D	0.847	0.60933	P	0.000164	0.48594	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.72	0.72994	T	-1.31	0.33197	N	0.244	0.35194	-0.3799	0.72654	T	0.332	0.69927	T	10	0.17673427	0.32673	T	0.036766	0.57199	D	0.221	0.51721	0.3	0.26683	0.36453787251	0.36064	0.2942207127209903	0.29335	0.018939926204	0.01841	0.408009529114	0.26181	T	0.048589	0.28061	T	-0.00336566	0.51191	T	-0.242611	0.50543	T	0.934820055961609	0.60257	D	0.666133	0.27528	T	0.110392645	0.26095	0.083750136	0.19215	0.110392645	0.26095	0.083750136	0.19215	-5.572	0.43156	T	.	.	0.080	0.07841	B	.;.;.	.;.;.	1.600679	0.20464	14.76	0.99138639633858816	0.53464	0.50671	0.28717	D	AEFDBI	0.170093	0.29697	N	0.0723782459241489	0.45176	2.778674	0.0231050897175746	0.40789	2.440017	0.999999945112802	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.04	5.04	0.67293	0.393000	0.20543	3.284000	0.37253	0.599000	0.40250	0.063000	0.21864	0.998000	0.33993	0.361000	0.25909	0.0:0.9166:0.0:0.0834	11.521	0.49802	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1378.33	33	chr15	94298471	.	C	G	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=828;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.259;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1213	18	0	1	0
chr15	94356159	94356159	G	A	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385009:exon8:c.G530A:p.R177Q,MCTP2:NM_001385010:exon8:c.G530A:p.R177Q,MCTP2:NM_001385001:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385003:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385004:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385005:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385006:exon9:c.G1028A:p.R343Q,MCTP2:NM_001385008:exon9:c.G1028A:p.R343Q,MCTP2:NM_001159643:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385002:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385011:exon10:c.G710A:p.R237Q,MCTP2:NM_018349:exon10:c.G1028A:p.R343Q,MCTP2:NM_001385007:exon11:c.G746A:p.R249Q	.	441	1035	44	2	0	48	0.0226629	.	.	.	703430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0285784830168	0.0016	0.00139776	0.0026	0.0006	0.0009	0.0001	0.0005	0.0020	0.0044	0.0095	0.0023997	371	154602	rs77311454	0.0021	0.0022	0.0017	0.0026	0.0125	0.0021	0.0021	0.0102	0.0094	0.0002	0.0013	0.0010	0.0002	0.0008	0.0125	0.0017	0.0028	0.0099	0.0017	0.0017	0.0017	0.0018	0.0094	0.0016	0.0015	0.0072	0.0064	0.0005	0	0.0011	0.0023	0	0.0009	0.0034	0.0023	0.0033	0.0094	0.035	0.61437	D	0.043	0.49942	D	0.963	0.70673	D	0.49	0.50862	P	0.000031	0.55875	D	0.122719	0.811984	0.81001	D	2.275	0.64647	M	-0.58	0.71425	T	-1.57	0.37955	N	0.641	0.65330	-0.4166	0.71500	T	0.345	0.70996	T	10	0.009296387	0.00210	T	0.028578	0.51232	D	0.174	0.44019	.	.	0.493896554345	0.49026	0.5388158777713828	0.53806	0.0405451585251	0.04348	0.466655552387	0.34222	T	0.026746	0.19729	T	-0.274342	0.11277	T	-0.159031	0.58440	T	0.0203505476120027	0.00735	T	0.887811	0.61653	D	0.25309297	0.48329	0.2495227	0.50525	0.25309297	0.48328	0.2495227	0.50524	-8.481	0.64944	D	.	.	0.140	0.30765	B	.;.;.	.;.;.	4.182256	0.62963	24.5	0.99950071457453982	0.99938	0.99512	0.96919	D	AEFI	0.803652	0.72873	D	0.511913172638425	0.67793	5.129319	0.58567261811813	0.73911	6.048688	0.99997421069029	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.77	5.77	0.91077	8.265000	0.89801	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	0.0:0.0:1.0:0.0	19.605	0.95571	986	0.02773	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.005102	0.004076	0.005848	0.050000	0.008621	0.003049	0.003788	0.02632	1579.33	33	chr15	94356159	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.07;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	18	0	1	0
chr15	94470347	94470347	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1712T:p.T571M,MCTP2:NM_001385004:exon19:c.C2210T:p.T737M,MCTP2:NM_001159643:exon20:c.C2210T:p.T737M,MCTP2:NM_001385005:exon20:c.C2333T:p.T778M,MCTP2:NM_001385006:exon20:c.C2252T:p.T751M,MCTP2:NM_001385009:exon20:c.C1877T:p.T626M,MCTP2:NM_001385001:exon21:c.C2375T:p.T792M,MCTP2:NM_001385003:exon21:c.C2375T:p.T792M,MCTP2:NM_001385002:exon22:c.C2375T:p.T792M,MCTP2:NM_018349:exon22:c.C2375T:p.T792M,MCTP2:NM_001385007:exon23:c.C2093T:p.T698M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0912683341171	.	.	4.119e-05	0	8.642e-05	0.0001	0	4.496e-05	0	0	3.88e-05	6	154602	rs570221748	1.781e-05	2.052e-05	1.636e-05	1.927e-05	0.0002	1.239e-05	1.053e-05	2.996e-05	2.038e-05	0	4.473e-05	0	5.04e-05	0	0.0002	1.171e-05	3.315e-05	6.96e-05	1.972e-05	1.97e-05	0	4.036e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.76916	D	0.000005	0.62929	D	0.109289	0.999969	0.52935	D	3.2	0.89116	M	-0.35	0.68616	T	-4.31	0.78222	D	0.684	0.72120	0.002	0.82291	D	0.484	0.80301	T	10	0.7336463	0.74470	D	0.091268	0.75675	D	0.443	0.74588	0.479	0.55823	0.53104733087	0.52752	0.6654961884117682	0.66486	0.154882509621	0.17493	0.616541564465	0.55240	T	0.287151	0.65995	T	0.0515494	0.58543	T	0.0619725	0.74375	D	0.893883228302002	0.54518	D	0.990041	0.96927	D	0.45788476	0.64539	0.5042652	0.71345	0.45788476	0.64540	0.5042652	0.71345	-11.019	0.84443	D	.	.	0.330	0.55208	B	.;.	.;.	4.740843	0.76452	26.5	0.99885545256151553	0.96049	0.97902	0.77993	D	AEFI	0.814661	0.73683	D	0.814074181744828	0.86979	9.06216	0.778680703644416	0.88275	9.521248	0.998610252336283	0.37309	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.011000	0.70418	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8573:0.1426:0.0	14.931	0.70561	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	33	chr15	94470347	.	C	T	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.758;DP=720;ExcessHet=0;FS=36.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.11;SOR=5.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1129:.	18	0	1	0
chr15	94470351	94470354	CCCC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1716_1719del:p.P573Sfs*8,MCTP2:NM_001385004:exon19:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001159643:exon20:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001385005:exon20:c.2337_2340del:p.P780Sfs*8,MCTP2:NM_001385006:exon20:c.2256_2259del:p.P753Sfs*8,MCTP2:NM_001385009:exon20:c.1881_1884del:p.P628Sfs*8,MCTP2:NM_001385001:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385003:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385002:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_018349:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385007:exon23:c.2097_2100del:p.P700Sfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-05	0.0003	1.5e-05	1.377e-05	2.32e-05	9.25e-06	7.85e-06	9.33e-06	7.63e-06	0	0	7.659e-05	0	0	0	1.532e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	96.29	33	chr15	94470350	.	TCCCC	T	96.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=721;ExcessHet=0;FS=37.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.626;SOR=5.41	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1129:.	18	0	1	0
chr15	94470358	94470358	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1723T:p.L575F,MCTP2:NM_001385004:exon19:c.C2221T:p.L741F,MCTP2:NM_001159643:exon20:c.C2221T:p.L741F,MCTP2:NM_001385005:exon20:c.C2344T:p.L782F,MCTP2:NM_001385006:exon20:c.C2263T:p.L755F,MCTP2:NM_001385009:exon20:c.C1888T:p.L630F,MCTP2:NM_001385001:exon21:c.C2386T:p.L796F,MCTP2:NM_001385003:exon21:c.C2386T:p.L796F,MCTP2:NM_001385002:exon22:c.C2386T:p.L796F,MCTP2:NM_018349:exon22:c.C2386T:p.L796F,MCTP2:NM_001385007:exon23:c.C2104T:p.L702F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.0514822312749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.992e-07	3.22e-06	1.834e-06	0	1.261e-06	0	0	.	.	0	0	0	0	0	0	1.261e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-0.5	0.70480	T	-3.47	0.70432	D	0.801	0.81658	0.340	0.88184	D	0.613	0.86322	D	10	0.73406565	0.74497	D	0.051482	0.64680	D	0.477	0.76881	0.39	0.41279	0.565975473979	0.56261	0.8005047111672872	0.80004	0.15916760332	0.17961	0.610159814358	0.54339	T	0.195416	0.55150	T	0.329093	0.85099	D	0.234943	0.84904	D	0.992740094661713	0.83306	D	0.988589	0.96450	D	0.8139349	0.84814	0.77263886	0.86580	0.8139349	0.84815	0.77263886	0.86581	-10.781	0.78443	D	.	.	0.430	0.66484	A	.;.	.;.	4.178983	0.62890	24.5	0.99898197772616448	0.97048	0.85441	0.44574	D	AEFI	0.389425	0.46865	N	0.764910667749622	0.83871	8.132646	0.701203820979391	0.82471	7.774978	0.368036207059284	0.19842	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	2.441000	0.44522	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.381	0.94526	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	1488.59	64	chr15	94470358	.	C	T	1488.59	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.154;DP=1070;ExcessHet=0.8031;FS=279.923;InbreedingCoeff=-0.3361;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=2.44;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:48,0:48:0:.:.:0,0,446:.	7	0	1	11
chr15	98707682	98707682	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon2:c.G215A:p.S72N,IGF1R:NM_001291858:exon2:c.G215A:p.S72N	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4150803	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.00758554570454	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749397555	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	1.799e-06	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.882	0.02532	T	0.978	0.02434	T	0.0	0.02946	B	0.0	0.01387	B	0.000389	0.44960	D	0.091189	0.994335	0.42244	D	-0.385	0.03041	N	-1.31	0.79666	T	0.51	0.02898	N	0.149	0.15888	-0.9561	0.39898	T	0.127	0.43277	T	10	0.09742445	0.17544	T	0.007586	0.20139	T	0.225	0.52323	0.467	0.53891	0.517039506269	0.51347	0.5415820654640275	0.54083	0.574231619775	0.53464	0.48493039608	0.36736	T	0.469913	0.80325	T	-0.321636	0.06765	T	-0.497131	0.22645	T	0.157736612099696	0.17702	T	0.591441	0.21800	T	0.108769774	0.25717	0.05374001	0.09111	0.108769774	0.25716	0.05374001	0.09111	-2.338	0.04767	T	0.096996351897064	0.06775	0.060	0.00876	B	.;.;.;.	.;.;.;.	3.376872	0.46690	22.3	0.88038468372066425	0.17669	0.74163	0.36276	D	AEFGBCI	0.178376	0.30563	N	-0.594597208632209	0.19107	0.9974721	-0.324875260101716	0.27297	1.513727	0.999997411336714	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.36	2.99	0.33673	2.823000	0.47781	8.360000	0.77028	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.4689:0.0:0.5311:0.0	4.505	0.11290	986	0.02773	Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1688.33	33	chr15	98707682	.	G	A	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.438;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1246	18	0	1	0
chr15	98891456	98891456	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon3:c.G772A:p.G258S,IGF1R:NM_001291858:exon3:c.G772A:p.G258S	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3119044	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.813	0.296668878842	.	0.000199681	0.0003	9.694e-05	0	0	0	0	0	0.0022	0.0002587	40	154602	rs543792941	0.0002	0.0002	6.671e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	5.974e-05	0	0	0	0	0.0003	1.349e-05	0.0002	0.0023	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.017	0.52492	D	0.115	0.58089	T	0.939	0.90584	P	0.56	0.72444	P	0.000015	0.62929	D	0.000000	1	0.81001	D	2.895	0.83812	M	-4.67	0.97973	D	-3.03	0.74193	D	0.7	0.72925	1.094	0.99386	D	0.959	0.98677	D	10	0.24206027	0.41395	T	0.296669	0.90745	D	0.813	0.93969	.	.	0.915375118006	0.91452	0.7919152212152811	0.79143	1.02142501696	0.75137	0.632767379284	0.57537	T	0.90999	0.98298	D	-0.0489295	0.44611	T	0.151082	0.80253	D	0.237654802422415	0.22311	T	0.80342	0.46506	T	0.4168267	0.61880	0.30001146	0.56034	0.47074214	0.65336	0.34220785	0.59950	-7.3	0.56196	T	0.26105467012534306	0.35246	0.152	0.33732	B	.;.;.;.;.	.;.;.;.;.	4.544623	0.71468	25.7	0.9986106689111679	0.93911	0.96295	0.68442	D	AEFGBHCI	0.871183	0.79245	D	0.608139497685239	0.73689	6.007296	0.513700266439756	0.68909	5.285809	1.0	0.98316	0.562547	0.31514	0	0.547309	0.14657	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.28	5.28	0.74118	8.086000	0.89338	9.829000	0.81850	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.0:1.0:0.0	19.269	0.93987	986	0.02773	Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	33	chr15	98891456	.	G	A	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=803;ExcessHet=0;FS=5.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.353;SOR=0.698	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1165	18	0	1	0
chr15	98911384	98911384	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon7:c.G1532A:p.R511Q,IGF1R:NM_001291858:exon7:c.G1532A:p.R511Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	29833	IGF1R-related_disorder|not_specified|not_provided|Growth_delay_due_to_insulin-like_growth_factor_I_resistance	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.02219603975	0.0015	0.000798722	0.0014	0.0003	0.0003	0	0.0002	0.0024	0.0022	0.0001	0.0016041	248	154602	rs33958176	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0002	0.0004	0.0028	0	0.0003	0.0007	0.0034	0.0027	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0027	0.0026	0.0005	0	0.0014	0.0023	0	9.423e-05	0	0.0030	0.0014	0	0.597	0.06145	T	0.572	0.19073	T	0.188	0.36665	B	0.016	0.21085	B	0.000049	0.53742	D	0.000000	0.999848	0.49770	A	2.115	0.58683	M	-0.37	0.73949	T	-0.57	0.28906	N	0.349	0.42050	-0.6108	0.64370	T	0.226	0.59096	T	9	0.008615732	0.00195	T	0.022196	0.45064	T	0.254	0.56428	.	.	0.846087805279	0.84461	0.7290749888736927	0.72852	0.733860430023	0.62867	0.52810561657	0.42767	T	0.440796	0.78557	T	-0.203307	0.20328	T	-0.053136	0.66807	D	0.0205880874629327	0.00759	T	0.918008	0.78384	D	0.20096453	0.42090	0.14691411	0.34789	0.23413454	0.46229	0.1346258	0.32254	-7.346	0.56522	T	0.2843677419150365	0.38015	0.165	0.36436	B	.;.;.;.;.	.;.;.;.;.	4.300004	0.65647	24.9	0.99733804624893996	0.82975	0.96552	0.69711	D	AEFGBI	0.385957	0.46650	N	0.202412991127524	0.51316	3.313809	0.344738443105416	0.58190	3.988267	0.999999972204837	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.003000	0.63708	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.071:0.0:0.9289:0.0	14.326	0.66079	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4964.83	34	chr15	98911384	.	G	A	4964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=993;ExcessHet=0.119;FS=1.209;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.41;SOR=0.7	GT:AD:DP:GQ:PL	0/1:93,113:206:99:2732,0,2145	17	0	2	0
chr15	99129586	99129586	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.C1226T:p.T409I,SYNM:NM_145728:exon4:c.C1226T:p.T409I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0228109670467	.	.	8.284e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs782115557	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.38	0.81727	T	-1.35	0.33598	N	0.05	0.02759	-0.8328	0.53120	T	0.308	0.67831	T	8	0.04331547	0.03168	T	0.022811	0.45731	T	0.223	0.52023	0.135	0.03920	0.252162846088	0.24830	0.31497397839098845	0.31410	0.176539232484	0.19871	0.288469612598	0.08701	T	0.012352	0.10875	T	-0.0643592	0.42224	T	-0.330224	0.41443	T	0.0445382395389142	0.04519	T	0.562144	0.19728	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.19919	B	.;.;.	.;.;.	0.520668	0.08895	5.674	0.83365573690035977	0.14686	0.04687	0.10371	N	AEFDBI	0.050566	0.08850	N	-1.2031374661446	0.04954	0.2247241	-1.30250406200404	0.04398	0.2073491	0.999988271862121	0.51787	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.42	-5.47	0.02396	0.068000	0.14398	0.225000	0.16120	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.1375:0.6078:0.2546	9.615	0.38850	980	0.04108	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1706.33	33	chr15	99129586	.	C	T	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.371;DP=1190;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.166;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	18	0	1	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del,MEF2A:NM_001130926:exon10:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001130927:exon10:c.1048_1062del:p.Q356_Q360del,MEF2A:NM_001365206:exon10:c.1246_1260del:p.Q422_Q426del,MEF2A:NM_001365207:exon10:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001352616:exon11:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001352617:exon11:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001352618:exon11:c.1246_1260del:p.Q422_Q426del,MEF2A:NM_001365202:exon11:c.1270_1284del:p.Q430_Q434del,MEF2A:NM_001365204:exon11:c.1258_1272del:p.Q426_Q430del,MEF2A:NM_001365205:exon11:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001365208:exon11:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001365209:exon11:c.1048_1062del:p.Q356_Q360del,MEF2A:NM_005587:exon11:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001171894:exon12:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001319206:exon12:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001352614:exon12:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001365201:exon12:c.1270_1284del:p.Q430_Q434del,MEF2A:NM_001365203:exon12:c.1258_1272del:p.Q426_Q430del,MEF2A:NM_001352615:exon13:c.1228_1242del:p.Q416_Q420del	.	0	60	66	37	63	203	0.538462	.	.	.	3207195	MEF2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	31018.3	39	chr15	99712504	.	CCAGCAGCAGCAGCAG	C	31018.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.196;DP=1827;ExcessHet=0.1862;FS=0.581;InbreedingCoeff=0.2549;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.11;ReadPosRankSum=0.469;SOR=0.77	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr15	99712504	99712504	-	CAG	exonic	MEF2A	.	nonframeshift insertion	MEF2A:NM_001130928:exon8:c.1023_1024insCAG:p.Q352_P353insQ,MEF2A:NM_001130926:exon10:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001130927:exon10:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_001365206:exon10:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365207:exon10:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352616:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352617:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352618:exon11:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365202:exon11:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365204:exon11:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001365205:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001365208:exon11:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365209:exon11:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_005587:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001171894:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001319206:exon12:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352614:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365201:exon12:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365203:exon12:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001352615:exon13:c.1227_1228insCAG:p.Q420_P421insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs374033278	0.0029	0.0028	0.0029	0.0028	0.0092	0.0028	0.0027	0.0083	0.0080	0.0092	0.0029	0.0038	0.0026	0.0014	0.0035	0.0027	0.0035	0.0023	0.0044	0.0044	0.0049	0.0039	0.0088	0.0041	0.0040	0.0081	0.0078	0.0088	0	0.0029	0.0043	0.0024	0.0010	0.0034	0.0029	0.0092	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	31018.3	39	chr15	99712504	.	C	CCAG	31018.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.196;DP=1827;ExcessHet=0.1862;FS=0.581;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=27.11;ReadPosRankSum=0.469;SOR=0.77	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	17	0	2	0
chr15	99729536	99729536	C	T	exonic	LYSMD4	.	nonsynonymous SNV	LYSMD4:NM_001284420:exon2:c.G295A:p.G99S,LYSMD4:NM_001284417:exon3:c.G478A:p.G160S,LYSMD4:NM_001284418:exon3:c.G478A:p.G160S,LYSMD4:NM_001284421:exon4:c.G100A:p.G34S,LYSMD4:NM_001284419:exon5:c.G466A:p.G156S,LYSMD4:NM_001284422:exon5:c.G100A:p.G34S,LYSMD4:NM_152449:exon6:c.G481A:p.G161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00352978619114	7.7e-05	0.000399361	5.772e-05	9.645e-05	0	0.0006	0	1.5e-05	0	0	5.82e-05	9	154602	rs140745845	2.326e-05	2.326e-05	2.859e-05	1.788e-05	0.0002	1.674e-05	1.477e-05	8.198e-05	5.784e-05	0	2.236e-05	0	0.0002	0	0	1.978e-05	4.967e-05	1.159e-05	7.225e-05	7.218e-05	0.0001	2.686e-05	0.0010	3.969e-05	3.126e-05	0.0004	0.0002	9.63e-05	0	0	0	0.0010	0	0	2.94e-05	0	0	1.0	0.00964	T	0.78	0.05882	T	0.0	0.11197	B	0.001	0.04355	B	0.129017	0.02792	N	1.800690	1	0.08975	N	0.09	0.08384	N	2.34	0.16351	T	1.16	0.01136	N	0.041	0.01421	-0.9977	0.30563	T	0.012	0.04653	T	10	0.013911039	0.00294	T	0.00353	0.08031	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.32733361953215223	0.32646	0.137656440124	0.15518	0.269809424877	0.06116	T	0.002352	0.01749	T	-0.6777	0.00049	T	-0.854868	0.00900	T	0.00949884382977934	0.00123	T	0.408959	0.10549	T	0.03097502	0.02854	0.034590285	0.02552	0.03097502	0.02853	0.034590285	0.02552	-4.063	0.30229	T	.	.	0.076	0.06159	B	.;.;.;.	.;.;.;.	-0.474912	0.01948	0.167	0.49331619430590096	0.04192	0.04030	0.09467	N	AEFBI	0.047692	0.08058	N	-1.71645527885303	0.00785	0.03391302	-1.75089838494054	0.00930	0.04160846	0.999999359684825	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.57	-7.18	0.01354	-1.207000	0.03118	-6.000000	0.01527	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1464:0.1823:0.0932:0.5781	3.874	0.08554	750	0.51762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2430.33	43	chr15	99729536	.	C	T	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=1047;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.824;SOR=0.678	GT:AD:DP:GQ:PL	0/0:90,0:90:51:0,51,1770	18	0	1	0
chr15	100569654	100569654	G	A	exonic	LINS1	.	nonsynonymous SNV	LINS1:NM_001040616:exon7:c.C1858T:p.P620S,LINS1:NM_001352508:exon7:c.C1705T:p.P569S,LINS1:NM_001352507:exon8:c.C1111T:p.P371S	Mental retardation, autosomal recessive 27, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0061639097495	.	.	3.301e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs765487446	3.422e-06	3.42e-06	4.085e-06	2.752e-06	0.0001	1e-06	7.3e-07	5.85e-05	3.759e-05	0.0001	0	0	0	0	0	0	0	0	5.914e-05	5.91e-05	5.139e-05	6.727e-05	0.0002	3.078e-05	2.21e-05	0.0001	8.454e-05	0.0002	0	0	0	0	0	0	0	0	0	0.803	0.03093	T	0.199	0.27679	T	0.017	0.17573	B	0.011	0.15521	B	0.278496	0.14990	N	0.644273	1	0.08975	N	0.75	0.19020	N	2.92	0.09915	T	-0.29	0.11728	N	0.051	0.02272	-0.9395	0.42695	T	0.016	0.06377	T	10	0.02889964	0.01019	T	0.006164	0.16141	T	0.025	0.05312	0.2	0.11384	0.144782658237	0.14088	0.20238606307414714	0.20155	0.0219314572043	0.02193	0.199948117137	0.00455	T	0.00208	0.01490	T	-0.536654	0.00351	T	-0.712451	0.05170	T	0.0171291882055936	0.00458	T	0.577942	0.20808	T	0.032759503	0.03363	0.05200701	0.08483	0.032759503	0.03362	0.05200701	0.08482	-2.077	0.03486	T	0.14886050737536932	0.17364	0.083	0.09143	B	.	.	0.071331	0.04796	1.407	0.1537621198883426	0.00374	0.16703	0.19510	N	AEFDBIJ	0.054051	0.09793	N	-1.00211236006811	0.08559	0.4018097	-0.964105289072934	0.10597	0.5347546	0.993537394418538	0.33253	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	3.32	0.37134	0.937000	0.28549	1.022000	0.23413	0.614000	0.49286	0.006000	0.17386	0.000000	0.08366	0.099000	0.18236	0.2603:0.0:0.7397:0.0	8.686	0.33400	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	31.14	65	chr15	100569654	.	G	A	31.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.028;DP=1302;ExcessHet=0;FS=46.993;InbreedingCoeff=-0.0574;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.98;SOR=5.981	GT:AD:DP:GQ:PL	0/0:70,0:70:76:0,76,1857	16	0	1	2
chr15	100569699	100569699	T	C	exonic	LINS1	.	nonsynonymous SNV	LINS1:NM_001040616:exon7:c.A1813G:p.M605V,LINS1:NM_001352508:exon7:c.A1660G:p.M554V,LINS1:NM_001352507:exon8:c.A1066G:p.M356V	Mental retardation, autosomal recessive 27, Autosomal recessive	0	1513	7	2	0	11	0.003622	.	.	.	208148	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.038	0.00786859715941	0.0030	0.00179712	0.0032	0.0004	0.0012	0	0.0011	0.0054	0.0033	0.0004	0.0032535	503	154602	rs141855950	0.0035	0.0035	0.0035	0.0035	0.0043	0.0034	0.0034	0.0042	0.0041	0.0004	0.0015	0.0007	0	0.0012	0.0021	0.0043	0.0028	0.0006	0.0025	0.0025	0.0029	0.0020	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0.0208	0.0014	0.0006	0	0.0013	0.0102	0.0042	0.0024	0.0004	0.284	0.15303	T	0.597	0.08025	T	0.006	0.13644	B	0.009	0.14300	B	0.559142	0.11355	N	0.807412	1	0.08975	N	1.385	0.34509	L	2.96	0.09542	T	-0.73	0.20576	N	0.111	0.09772	-0.9548	0.40131	T	0.014	0.05657	T	10	0.0044367015	0.00091	T	0.007869	0.20877	T	0.038	0.09825	.	.	0.148003135375	0.14442	0.21056481815225053	0.20972	0.0241734808708	0.02455	0.251071333885	0.03881	T	0.006477	0.05912	T	-0.579342	0.00194	T	-0.604008	0.12476	T	0.00251822801114324	0.00026	T	0.437256	0.12012	T	0.1089653	0.25763	0.071702875	0.15385	0.12494617	0.29302	0.08245246	0.18819	-1.799	0.02506	T	0.21805728516328768	0.29356	0.077	0.06433	B	.	.	0.474078	0.08434	5.193	0.37631309480870795	0.02491	0.40652	0.26484	N	AEFDBI	0.065231	0.12711	N	-0.797420619399092	0.13377	0.6585629	-0.771791599121989	0.15187	0.7975131	0.995452095884026	0.34136	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	3.84	0.43422	2.044000	0.40863	-0.767000	0.07511	0.502000	0.22824	0.132000	0.23378	0.000000	0.08366	0.003000	0.05239	0.1456:0.0853:0.0:0.7691	6.108	0.19305	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	1069.33	65	chr15	100569699	.	T	C	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.792;DP=1284;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.178;SOR=0.881	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr15	101065379	101065379	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.G4942A:p.A1648T	.	.	.	.	.	.	.	.	.	.	.	1425782	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0363016726418	.	0.000199681	7.535e-05	0.0001	0	0	0	1.52e-05	0	0.0004	6.47e-05	10	154602	rs572219729	4.653e-05	4.72e-05	2.315e-05	7.014e-05	0.0006	3.728e-05	3.412e-05	0.0005	0.0004	5.974e-05	0	0	0	0	0	1.439e-05	0	0.0006	4.594e-05	4.593e-05	6.421e-05	2.684e-05	0.0002	2.107e-05	1.525e-05	1.171e-05	6.25e-06	4.809e-05	0	6.532e-05	0	0	0	0	4.409e-05	0	0.0002	0.071	0.35165	T	0.026	0.55759	D	0.205	0.29827	B	0.015	0.17295	B	0.011520	0.29503	N	0.380291	0.948978	0.26552	N	2.075	0.57047	M	-0.51	0.70597	T	-1.39	0.34397	N	0.175	0.18784	-0.7676	0.56989	T	0.240	0.60786	T	10	0.10812995	0.20116	T	0.036302	0.56907	D	0.129	0.35316	0.562	0.68229	0.852454309185	0.85103	0.4179050797297451	0.41706	0.426003645369	0.42989	0.448093235493	0.31684	T	0.026642	0.19675	T	-0.324563	0.06531	T	-0.376028	0.36187	T	0.0523885766344597	0.05915	T	0.937806	0.76632	D	0.085860215	0.19934	0.119268805	0.28789	0.085860215	0.19934	0.119268805	0.28788	-5.729	0.43950	T	.	.	0.121	0.25133	B	.	.	3.417928	0.47442	22.5	0.99233137034045016	0.56278	0.81959	0.41263	D	AEFGBCI	0.328822	0.42936	N	-0.310494896803679	0.28749	1.588289	-0.260811210776769	0.29401	1.646895	0.999649750640506	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.26	3.18	0.35615	1.747000	0.37925	7.208000	0.57815	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0:0.0:0.54:0.46	13.477	0.60765	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1351.33	35	chr15	101065379	.	G	A	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=729;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.505;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1390	18	0	1	0
chr15	101286926	101286926	G	T	exonic	SNRPA1	.	nonsynonymous SNV	SNRPA1:NM_003090:exon5:c.C441A:p.F147L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.045965768099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.003	0.92824	D	0.987	0.61912	D	0.873	0.61978	P	0.000000	0.84330	D	0.048660	0.999997	0.58761	D	3.09	0.87444	M	0.19	0.60236	T	-5.78	0.87988	D	0.674	0.68169	-0.3079	0.74764	T	0.393	0.74634	T	10	0.6701731	0.70665	D	0.045966	0.62234	D	0.407	0.71946	0.5	0.59147	0.455266876523	0.45150	0.7542034499030285	0.75367	1.76704590817	0.91229	0.920951247215	0.98395	D	0.163305	0.69267	T	0.0781287	0.61820	D	-0.12555	0.61344	T	0.997008264064789	0.90554	D	0.974903	0.97997	D	0.9106666	0.92357	0.8085664	0.88809	0.9106666	0.92358	0.8085664	0.88810	-12.342	0.86477	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	4.461144	0.69433	25.4	0.99809163750453367	0.89353	0.88574	0.48565	D	AEFBCI	0.495716	0.53096	N	0.534835810102984	0.69163	5.318362	0.431172223667125	0.63516	4.586962	0.998234000556445	0.36618	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.29	3.0	0.33773	2.387000	0.44043	5.614000	0.49064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2526:0.0:0.7474:0.0	9.227	0.36573	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2740.33	42	chr15	101286926	.	G	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.026;DP=824;ExcessHet=0;FS=1.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.321;SOR=0.842	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	18	0	1	0
chr15	101370509	101370509	A	G	exonic	PCSK6	.	nonsynonymous SNV	PCSK6:NM_001291309:exon10:c.T1325C:p.V442A,PCSK6:NM_002570:exon12:c.T1547C:p.V516A,PCSK6:NM_138319:exon12:c.T1547C:p.V516A,PCSK6:NM_138323:exon12:c.T1547C:p.V516A,PCSK6:NM_138324:exon12:c.T1547C:p.V516A,PCSK6:NM_138325:exon12:c.T1547C:p.V516A	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0537217913283	0.0003	0.00119808	0.0019	0.0005	0.0031	0	0	0.0014	0.0091	0.0039	0.0003493	54	154602	rs375884418	0.0007	0.0007	0.0007	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0001	0.0008	0.0001	0	0.0002	0.0009	0.0008	0.0006	0.0011	0.0007	0.0007	0.0008	0.0007	0.0029	0.0006	0.0006	0.0022	0.0020	9.617e-05	0	0.0029	0.0003	0	0.0002	0	0.0007	0.0019	0.0012	0.365	0.11732	T	0.753	0.04807	T	0.093	0.26116	B	0.014	0.24256	B	0.035080	0.24690	N	0.432771	0.999966	0.18878	N	0.645	0.16088	N	-2.26	0.87352	D	0.46	0.03140	N	0.067	0.05929	-0.7319	0.58867	T	0.237	0.60487	T	10	0.006486386	0.00147	T	0.053722	0.65581	D	0.024	0.04979	.	.	0.655801921829	0.65292	0.3343863446642598	0.33351	.	.	0.571759641171	0.48927	T	0.11607	0.43513	T	-0.368069	0.03693	T	-0.320496	0.42521	T	0.00581441877139183	0.00064	T	0.546745	0.25688	T	0.04164387	0.06172	0.07834542	0.17538	0.04164387	0.06171	0.07834542	0.17538	-0.495	0.00580	T	.	.	0.082	0.26762	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.830358	0.23256	15.95	0.59884669966212867	0.06330	0.68913	0.33983	D	AEFDGBI	0.391086	0.46967	N	-0.67000991673972	0.16879	0.8638961	-0.516029304111699	0.21719	1.176196	0.999615329024236	0.40981	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.15	0.977	0.18853	1.617000	0.36554	2.919000	0.35553	0.756000	0.94297	0.935000	0.32453	0.968000	0.29604	0.615000	0.31768	0.5468:0.2357:0.0:0.2175	5.157	0.14367	951	0.11083	P domain;Peptidase S8/S53 domain|P domain;.;P domain;P domain;.;.;P domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004376	0.005435	0.000000	0.000000	0.000000	0.000000	0.006536	0.021008	0.02632	1069.33	40	chr15	101370509	.	A	G	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=841;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.44;SOR=1.031	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr15	101711960	101711960	C	T	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon5:c.G732A:p.M244I	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0125758893241	0.0004	0.000998403	0.0016	9.775e-05	0.0026	0	0	0.0005	0.0022	0.0080	0.0014101	218	154602	rs138576200	0.0008	0.0008	0.0005	0.0011	0.0080	0.0007	0.0007	0.0075	0.0073	2.988e-05	0.0009	0	0	1.872e-05	0.0056	0.0003	0.0011	0.0080	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	7.216e-05	0	0.0007	0	0.0004	0	0.0102	0.0005	0.0009	0.0079	0.164	0.23360	T	0.216	0.26226	T	0.311	0.32818	B	0.137	0.33328	B	0.000000	0.84330	D	0.037010	1	0.81001	D	0.86	0.21358	L	3.24	0.06845	T	-2.82	0.59545	D	0.778	0.77507	-1.0687	0.09701	T	0.026	0.11353	T	10	0.0127848685	0.00273	T	0.012576	0.31278	T	0.198	0.48105	0.395	0.42099	0.50810274593	0.50449	0.4084183242562478	0.40757	0.0673842788686	0.07530	0.604388415813	0.53524	T	0.25228	0.62264	T	-0.354413	0.04456	T	-0.276316	0.47180	T	0.0708742092903479	0.08773	T	0.972303	0.89961	D	0.46672738	0.65089	0.39096457	0.63879	0.46672738	0.65090	0.39096457	0.63879	-7.7	0.59008	D	.	.	0.757	0.76578	P	.;.	.;.	3.975869	0.58419	24.0	0.9919636756248571	0.55142	0.98493	0.83361	D	AEFBI	0.852237	0.76914	D	0.235208173123342	0.52913	3.462584	0.380425553281883	0.60357	4.222546	0.999999999982938	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	7.681000	0.83381	5.786000	0.49836	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.635	0.84906	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004777	0.012048	0.002732	0.003067	0.000000	0.008621	0.000000	0.011811	0.02632	1057.33	92	chr15	101711960	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.255;DP=763;ExcessHet=0;FS=1.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.18;SOR=0.467	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	18	0	1	0
chr15	101714943	101714943	G	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon4:c.C587T:p.T196M	.	438	1064	20	0	0	20	0.00931099	.	.	.	2814541	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.166	.	0.0008	0.00299521	0.0025	0.0002	0.0004	0.0001	0.0015	0.0022	0.0022	0.0083	0.0021733	336	154602	rs148053074	0.0013	0.0014	0.0011	0.0016	0.0084	0.0013	0.0013	0.0079	0.0077	9.007e-05	0.0004	0.0016	7.582e-05	0.0017	0.0042	0.0009	0.0012	0.0084	0.0012	0.0012	0.0011	0.0012	0.0096	0.0010	0.0010	0.0074	0.0066	0.0001	0	0.0005	0.0017	0	0.0010	0.0068	0.0015	0.0014	0.0096	0.048	0.40068	D	0.061	0.47828	T	0.993	0.65571	D	0.87	0.61806	P	0.030279	0.25333	N	0.447102	1	0.08975	N	2.865	0.83145	M	3.3	0.06368	T	-2.61	0.56144	D	0.406	0.44666	-1.0778	0.07781	T	0.045	0.19275	T	10	0.012551904	0.00269	T	.	.	.	0.166	0.42578	.	.	0.654922819804	0.65204	0.5467780833325507	0.54603	0.0724840226661	0.08123	0.326777070761	0.14447	T	0.217899	0.58046	T	-0.492028	0.00633	T	-0.474835	0.24996	T	0.0373221893362915	0.03212	T	0.89841	0.64469	D	0.04345764	0.06775	0.09358877	0.22112	0.04345764	0.06775	0.09358877	0.22111	-8.601	0.65096	D	.	.	0.089	0.15520	B	.;.	.;.	4.152054	0.62284	24.4	0.99813512828511386	0.89708	0.79288	0.39261	D	AEFBI	0.261060	0.37908	N	0.369595672332471	0.59780	4.160503	0.270398489671687	0.53818	3.549044	0.637549102613351	0.22023	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.9	4.04	0.46262	3.995000	0.56715	5.681000	0.49295	0.654000	0.53741	0.881000	0.31008	0.991000	0.31484	0.991000	0.66497	0.2489:0.0:0.7511:0.0	7.740	0.28000	702	0.57624	TGS;TGS	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.018939	0.02632	565.33	33	chr15	101714943	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.025;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.968;SOR=0.784	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1330	18	0	1	0
chr15	101818248	101818248	G	A	exonic	OR4F15	.	nonsynonymous SNV	OR4F15:NM_001001674:exon1:c.G62A:p.R21Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	2814542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00118040570934	0.0038	0.00219649	0.0034	0.0011	0.0042	0	0	0.0049	0.0066	0.0011	0.0032988	510	154602	rs142759394	0.0040	0.0040	0.0039	0.0040	0.0299	0.0039	0.0039	0.0262	0.0248	0.0018	0.0037	0.0089	0	9.362e-05	0.0299	0.0043	0.0052	0.0016	0.0036	0.0036	0.0038	0.0033	0.0050	0.0033	0.0032	0.0046	0.0044	0.0009	0.0505	0.0038	0.0118	0.0002	0	0.0170	0.0050	0.0057	0.0012	0.138	0.25873	T	0.576	0.08624	T	0.0	0.02946	B	0.001	0.04355	B	0.005063	0.33125	N	0.142349	0.999846	0.20103	N	-0.02	0.05091	N	7.43	0.00400	T	0.12	0.05604	N	0.174	0.18649	-0.9777	0.35526	T	0.001	0.00188	T	9	0.004750639	0.00100	T	0.00118	0.01509	T	0.125	0.34456	.	.	0.312306559268	0.30836	0.03231988802055784	0.03179	0.0109991440386	0.01025	0.254744470119	0.04284	T	9.58E-4	0.00501	T	-0.663891	0.00060	T	-0.724075	0.04602	T	0.00514198221419872	0.00056	T	0.19598	0.02159	T	0.045161884	0.07345	0.053965233	0.09194	0.045161884	0.07345	0.053965233	0.09193	-4.165	0.26243	T	.	.	0.082	0.08560	B	.	.	2.526806	0.32665	19.11	0.96641249970911136	0.30553	0.10355	0.15885	N	AEFDI	0.090418	0.18322	N	-0.71013839095938	0.15736	0.7956623	-0.617059161293788	0.19054	1.020685	0.00128944191395503	0.08410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	4.36	0.51643	-0.476000	0.06671	1.109000	0.24140	-0.108000	0.15293	0.000000	0.06391	0.028000	0.21151	0.088000	0.17685	0.0:0.1664:0.6611:0.1725	8.698	0.33471	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.000000	0.027174	0.064327	0.000000	0.017241	0.009146	0.007576	0.05263	4004.83	34	chr15	101818248	.	G	A	4004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=879;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.603;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr16	59460	59460	T	C	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon15:c.A1852G:p.M618V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0126539405309	.	.	1.663e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs778943144	6.843e-06	6.84e-06	4.085e-06	9.628e-06	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	1.313e-05	1.313e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.823	0.02936	T	0.797	0.04104	T	0.04	0.21238	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.72	0.18721	N	0.85	0.47130	T	-0.25	0.11008	N	0.917	0.91968	-1.0570	0.12517	T	0.070	0.28544	T	10	0.48494664	0.60652	T	0.012654	0.31409	T	0.193	0.47281	0.252	0.19067	0.484691182572	0.48100	0.8049455255058424	0.80448	1.12878905808	0.78533	0.80831694603	0.83234	D	0.019714	0.15652	T	0.0463938	0.57879	T	0.0315189	0.72376	D	0.330339252948761	0.26238	T	0.968003	0.88371	D	0.22659163	0.45344	0.1681815	0.38759	0.22659163	0.45344	0.1681815	0.38758	-5.09	0.37802	T	.	.	0.249	0.48386	B	.	.	3.544193	0.49785	22.8	0.93593509911375261	0.23446	0.96765	0.70819	D	AEFDBCI	0.869174	0.78960	D	-0.229272798919782	0.31938	1.795927	0.0160607035425427	0.40460	2.414968	0.999999999998555	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	7.953000	0.87348	4.236000	0.42680	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.575	0.67834	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	630.33	33	chr16	59460	.	T	C	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.188;DP=681;ExcessHet=0;FS=5.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.194;SOR=1.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	18	0	1	0
chr16	62992	62992	G	A	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon5:c.C653T:p.A218V	.	0	225	1	0	0	1	0.00221729	.	.	.	2196421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.116394012089	.	.	7.876e-05	0	0	0.0002	0	0	0	0.0004	5.82e-05	9	154602	rs746845357	4.59e-05	4.583e-05	2.726e-05	6.474e-05	0.0006	3.667e-05	3.352e-05	0.0005	0.0004	0.0001	6.721e-05	0	0	0	0	5.399e-06	3.316e-05	0.0006	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	6.532e-05	0	0	0	0.0034	0	0	0.0006	0.01	0.56456	D	0.03	0.54159	D	0.998	0.73220	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	-0.7	0.72785	T	-1.26	0.31778	N	0.612	0.62866	0.120	0.84536	D	0.524	0.82278	D	10	0.46417856	0.59468	T	0.116394	0.79587	D	0.396	0.71084	0.334	0.32167	0.819239731598	0.81753	0.5008231498140098	0.50004	0.618322327345	0.56229	0.775401651859	0.78234	T	0.06059	0.31428	T	-0.130989	0.31337	T	-0.0617707	0.66209	T	0.251398133394246	0.22936	T	0.857914	0.54791	D	0.15275984	0.34661	0.17140222	0.39321	0.15275984	0.34661	0.17140222	0.39320	-5.46	0.41492	T	.	.	0.365	0.57498	A	.	.	4.256052	0.64637	24.7	0.99917723544342196	0.98518	0.99407	0.95634	D	AEFDBI	0.908713	0.86439	D	0.665780589078334	0.77392	6.666178	0.600304586999361	0.74962	6.22724	0.999999999999997	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	8.041000	0.89198	7.370000	0.58392	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.195000	0.21750	0.0:0.0:1.0:0.0	17.026	0.86320	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1934.33	42	chr16	62992	.	G	A	1934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=814;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.66;SOR=1.056	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1323	18	0	1	0
chr16	79449	79449	A	C	exonic	MPG	.	nonsynonymous SNV	MPG:NM_001015052:exon2:c.A49C:p.K17Q,MPG:NM_001015054:exon2:c.A13C:p.K5Q,MPG:NM_002434:exon3:c.A64C:p.K22Q	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00470185907455	0.0015	0.000798722	0.0008	0.0005	0.0010	0.0005	0	0.0008	0.0022	0.0012	0.0008473	131	154602	rs3176383	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0011	0.0011	0.0006	0.0007	0	0.0007	3.811e-05	0.0005	0.0012	0.0011	0.0012	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0011	0	0	0	0	0.0012	0.0005	0.0012	0.12	0.27904	T	0.383	0.15842	T	0.987	0.61912	D	0.755	0.56206	P	0.684417	0.06109	N	1.183850	0.979822	0.25155	N	1.195	0.30194	L	2.83	0.10771	T	-0.84	0.26422	N	0.209	0.23253	-1.0068	0.27912	T	0.039	0.16720	T	10	0.016524851	0.00349	T	0.004702	0.11691	T	0.069	0.20116	.	.	0.558578966169	0.55518	0.2727501964920052	0.27188	0.0689220398116	0.07714	0.59633487463	0.52387	T	0.014546	0.72728	T	-0.524774	0.00412	T	-0.533841	0.18906	T	0.596048533916473	0.36244	D	0.448855	0.15758	T	0.10833353	0.25614	0.05433051	0.09326	0.10833353	0.25614	0.05433051	0.09326	-4.004	0.23864	T	.	.	0.119	0.29004	B	.;.;.;.	.;.;.;.	2.359105	0.30252	18.38	0.85102130436835843	0.15687	0.68225	0.33722	D	AEFDBCI	0.298141	0.40753	N	-0.218632938775895	0.32369	1.824781	-0.167187411466869	0.32752	1.866488	0.999999996389627	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	3.71	3.71	0.41733	3.581000	0.53658	3.813000	0.39918	0.754000	0.88378	0.991000	0.37257	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	9.065	0.35619	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1722.33	34	chr16	79449	.	A	C	1722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.914;DP=807;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.892;SOR=0.504	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr16	152928	152928	G	T	exonic	HBZ	.	stopgain	HBZ:NM_005332:exon1:c.G19T:p.E7X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021515	56	26028	rs2685129	0.0009	0.0026	0.0009	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	0.0004	0.0007	0.0015	2.519e-05	0.0008	0.0002	0.0009	0.0015	0.0004	0.0025	0.0042	0.0028	0.0023	0.0041	0.0023	0.0022	0.0037	0.0035	0.0008	0	0.0031	0.0032	0	0.0010	0	0.0041	0.0019	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000166	0.48594	D	0.209996	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.705	0.70878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.744298	0.96819	36	0.99742572234461957	0.83629	0.97789	0.77145	D	AEFDGBHCI	0.304085	0.41188	N	1.08895179500349	0.97924	17.04265	0.904903247030252	0.95783	13.96338	0.999999997466871	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	8.651000	0.90833	9.283000	0.79730	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	0.0:0.165:0.835:0.0	12.875	0.57376	789	0.46346	Globin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	65.33	36	chr16	152928	.	G	T	65.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=693;ExcessHet=0;FS=12.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=-7.512;QD=1.01;ReadPosRankSum=-1.641;SOR=2.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr16	152931	152931	A	G	exonic	HBZ	.	nonsynonymous SNV	HBZ:NM_005332:exon1:c.A22G:p.R8G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.169964275739	.	.	1.666e-05	0	0	0	0	1.523e-05	0	6.072e-05	0.0021899	57	26028	rs199612791	0.0009	0.0025	0.0009	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0004	0.0007	0.0017	2.519e-05	0.0008	0.0002	0.0010	0.0015	0.0004	0.0026	0.0042	0.0029	0.0023	0.0041	0.0024	0.0023	0.0037	0.0035	0.0008	0	0.0035	0.0035	0	0.0011	0	0.0041	0.0024	0.0010	0.014	0.53172	D	0.001	0.83351	D	0.982	0.60036	D	0.849	0.60615	P	0.000002	0.62929	N	0.097389	0.998011	0.22395	N	2.55	0.74443	M	-3.29	0.93740	D	-4.24	0.76015	D	0.17	0.18103	0.272	0.87103	D	0.816	0.93805	D	10	0.2868187	0.46264	T	0.169964	0.84765	D	0.474	0.76685	.	.	0.963851864234	0.96346	0.461466249411667	0.46064	0.0254876186551	0.02602	0.320112794638	0.13439	T	0.605578	0.87422	D	0.0476525	0.58040	T	-0.169327	0.57504	T	0.586168646812439	0.35856	D	0.59994	0.22366	T	0.660813	0.75942	0.55533695	0.74281	0.660813	0.75944	0.55533695	0.74282	-9.347	0.69902	D	.	.	0.338	0.55774	B	.	.	3.543635	0.49775	22.8	0.99583198973142761	0.73159	0.81198	0.40653	D	AEFDGBHCI	0.369279	0.45607	N	0.240117052878877	0.53152	3.485422	0.185794504983142	0.49068	3.11454	0.999998631477524	0.74766	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	3.56	0.39892	3.543000	0.53387	4.800000	0.44962	-0.588000	0.04664	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.8209:0.0:0.1791:0.0	7.659	0.27557	789	0.46346	Globin|Globin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	108.33	36	chr16	152931	.	A	G	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=696;ExcessHet=0;FS=10.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.42;MQRankSum=-7.669;QD=1.62;ReadPosRankSum=-3.104;SOR=2.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1257:.	18	0	1	0
chr16	173005	173009	GAGGT	-	exonic	HBA2	.	nonframeshift deletion	HBA2:NM_000517:exon1:c.93_95del:p.R32del	Erythrocytosis (3);Heinz body anemia, Autosomal dominant;Hemoglobin H disease, nondeletional;Hypochromic microcytic anemia (3);Thalassemia, alpha-	997	523	2	0	0	2	0.0019084	.	.	.	362629	not_provided|alpha_Thalassemia|Hemoglobin_H_disease|Heinz_body_anemia|Erythrocytosis,_familial,_7	MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0013512,MedGen:C3161174,OMIM:613978,Orphanet:93616|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1349788558	0.0003	0.0002	0.0003	0.0003	0.0182	0.0003	0.0002	0.0134	0.0117	0	0.0007	0	0	0	0.0182	0.0002	0.0003	0.0006	0.0001	8.23e-05	0.0002	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0055	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	60.95	1	chr16	173004	.	AGAGGT	A	60.95	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.04;DP=47;ExcessHet=0;FS=0;InbreedingCoeff=-0.1228;MLEAC=1;MLEAF=0.029;MQ=31.17;MQRankSum=0.623;QD=10.16;ReadPosRankSum=0.524;SOR=0.307	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,99	16	0	1	2
chr16	176780	176780	G	C	exonic	HBA1	.	nonsynonymous SNV	HBA1:NM_000558:exon1:c.G64C:p.A22P	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1514	2	0	0	2	0.000660066	.	.	YES	30765	HEMOGLOBIN_FONTAINEBLEAU	.	no_assertion_criteria_provided	other	.	.	.	.	.	.	.	.	0.691	0.468309004504	.	.	4.762e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs34324664	3.491e-06	7.526e-06	1.387e-06	5.624e-06	4.825e-05	1.02e-06	7.4e-07	1.626e-05	9.59e-06	0	0	0	0	0	0	9.12e-07	0	4.825e-05	6.684e-06	6.583e-06	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.056	0.46632	T	.	.	.	.	.	.	0.066733	0.21790	N	0.483761	1	0.26565	N	.	.	.	-3.26	0.93587	D	-2.49	0.54217	N	0.373	0.41459	0.183	0.85622	D	0.745	0.91284	D	7	0.8705034	0.86314	D	0.468309	0.94635	D	0.691	0.88773	0.831	0.94042	0.999517709484	0.99951	0.914412387342954	0.91416	.	.	0.482113718987	0.36349	T	0.191461	0.54631	T	0.116708	0.66041	D	0.123515	0.78468	D	0.118818163871765	0.14315	T	0.852615	0.53799	D	0.7179116	0.79045	0.37303063	0.62498	0.8948871	0.90932	0.5509946	0.74038	-7.396	0.56876	T	.	.	0.248	0.48240	B	.	.	2.066179	0.26275	17.06	0.98453104419142423	0.41643	0.56713	0.30188	D	AEFDGBHCI	0.324222	0.42618	N	-0.489428796832762	0.22426	1.197421	-0.650111667122415	0.18214	0.9720033	0.99999911503506	0.74766	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	4.43	1.18	0.20058	0.806000	0.26786	0.267000	0.16613	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1594:0.0:0.7048:0.1358	7.396	0.26109	804	0.43891	Globin|Globin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	335.33	34	chr16	176780	.	G	C	335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=744;ExcessHet=0;FS=8.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.28;MQRankSum=0.031;QD=3.1;ReadPosRankSum=0.759;SOR=1.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	352.79	22	chr16	176808	.	AGAGGT	A	352.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=713;ExcessHet=0.119;FS=4.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.9;MQRankSum=0.103;QD=3.3;ReadPosRankSum=0.553;SOR=1.257	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	17	0	2	0
chr16	259525	259525	G	A	exonic	FAM234A	.	nonsynonymous SNV	FAM234A:NM_001284497:exon4:c.G311A:p.R104K,FAM234A:NM_032039:exon4:c.G311A:p.R104K	.	427	1070	25	0	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00672025547804	0.0026	0.00299521	0.0038	0.0002	0.0015	0	0.0032	0.0042	0.0056	0.0078	0.0035446	548	154602	rs111339986	0.0034	0.0034	0.0030	0.0037	0.0081	0.0033	0.0032	0.0076	0.0074	0.0004	0.0014	0.0107	0	0.0021	0.0057	0.0031	0.0044	0.0081	0.0026	0.0026	0.0023	0.0028	0.0079	0.0024	0.0023	0.0059	0.0052	0.0006	0	0.0011	0.0124	0	0.0026	0.0034	0.0034	0.0033	0.0079	1.0	0.00964	T	1.0	0.02632	T	0.001	0.07471	B	0.001	0.04355	B	0.076338	0.21169	N	0.529473	0.998031	0.22385	N	.	.	.	0.56	0.54540	T	0.42	0.03352	N	0.136	0.13484	-0.9974	0.30646	T	0.040	0.17319	T	10	0.0065513253	0.00148	T	0.00672	0.17756	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.6941718200402318	0.69358	0.132247561378	0.14905	0.259903490543	0.04880	T	0.028335	0.20549	T	-0.539553	0.00337	T	-0.541268	0.18172	T	0.00414213613300951	0.00044	T	0.547145	0.25265	T	0.022811828	0.00971	0.03151409	0.01751	0.022811828	0.00970	0.03151409	0.01751	-2.508	0.05836	T	.	.	0.08	0.11989	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.325254	0.06995	3.551	0.81296480262568094	0.13615	0.39395	0.26203	N	AEFDGBHCI	0.075816	0.15237	N	-1.03158616031932	0.07953	0.3712729	-0.909742077689428	0.11864	0.6070143	0.999992181554563	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	-2.97	0.05195	0.152000	0.16120	-0.222000	0.10754	-0.106000	0.15538	0.986000	0.36153	0.026000	0.21063	0.773000	0.36634	0.6193:0.133:0.2477:0.0	7.535	0.26873	754	0.51307	.;.;.;.;.;.;.;.	.	.	.	.	rs111339986	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.010101	0.004076	0.000000	0.000000	0.017241	0.015244	0.007576	0.02632	978.33	35	chr16	259525	.	G	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=704;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.839;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr16	271201	271201	C	T	splicing	RGS11	NM_003834:exon12:c.800+1G>A;NM_001286485:exon11:c.830+1G>A;NM_001286486:exon10:c.311+1G>A;NM_183337:exon12:c.863+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0013	0	9.141e-05	0.0177	0	1.618e-05	0	6.241e-05	0.0010155	157	154602	rs200760725	0.0005	0.0005	0.0005	0.0005	0.0178	0.0005	0.0005	0.0167	0.0163	2.988e-05	0.0001	3.83e-05	0.0178	0	0	8.999e-06	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0133	0.0004	0.0004	0.0108	0.0099	2.406e-05	0	6.533e-05	0	0.0133	0	0	4.411e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0809188	0.39565	T	0.124615	0.78539	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.176550	0.86786	29.0	0.99070841779932517	0.51715	0.98718	0.85968	D	AEFBI	.	.	.	0.899246542758443	0.91721	11.03006	0.703768055586047	0.82665	7.823582	0.999999743580594	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.092715	0.02821	0	0.967491	0.70063	4.78	4.78	0.60666	6.540000	0.73764	5.558000	0.48910	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0:1.0:0.0:0.0	16.777	0.85416	737	0.53483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	33	chr16	271201	.	C	T	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=800;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.718;SOR=0.857	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1327	18	0	1	0
chr16	271441	271441	G	A	exonic	RGS11	.	nonsynonymous SNV	RGS11:NM_001286486:exon9:c.C155T:p.A52V,RGS11:NM_001286485:exon10:c.C674T:p.A225V,RGS11:NM_003834:exon11:c.C644T:p.A215V,RGS11:NM_183337:exon11:c.C707T:p.A236V	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.057372665871	0.0006	.	0.0004	0.0002	8.672e-05	0.0001	0	0.0007	0	0.0001	0.0004463	69	154602	rs141912967	0.0006	0.0006	0.0006	0.0005	0.0024	0.0005	0.0005	0.0015	0.0012	0.0002	0.0002	0.0003	2.519e-05	5.647e-05	0.0024	0.0006	0.0007	0.0002	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0001	0	0	0	0	0.0007	0.0014	0	0.015	0.59928	D	0.084	0.62352	T	1.0	0.90584	D	0.986	0.76916	D	0.005232	0.32979	N	0.283080	0.999991	0.58761	D	3.145	0.88303	M	1.89	0.23688	T	-3.13	0.63901	D	0.539	0.57860	-0.6555	0.62473	T	0.199	0.55527	T	10	0.37853557	0.54018	T	0.057373	0.66942	D	0.329	0.65126	.	.	0.582387198248	0.57910	0.5535523581478102	0.55281	0.412393024737	0.41979	0.450259894133	0.31979	T	0.31512	0.68675	T	-0.25891	0.13028	T	-0.235038	0.51282	T	0.120008997619152	0.14431	T	0.912709	0.70062	D	0.22405499	0.45039	0.16093935	0.37459	0.22405499	0.45039	0.16093935	0.37458	-7.078	0.54602	T	.	.	0.128	0.31253	B	.;.;.	.;.;.	3.319846	0.45653	22.2	0.99827562634835176	0.90939	0.98221	0.80666	D	AEFDBI	0.738560	0.68339	D	0.481977617537559	0.66037	4.898688	0.33218469847725	0.57440	3.909757	0.999999999518942	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.04	5.04	0.67293	5.186000	0.64918	7.942000	0.75525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	17.351	0.87213	737	0.53483	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.05263	3202.83	33	chr16	271441	.	G	A	3202.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.9;DP=924;ExcessHet=0.119;FS=1.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.779;SOR=0.825	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1327	17	0	2	0
chr16	283193	283193	-	CTG	exonic	PDIA2	.	nonframeshift insertion	PDIA2:NM_006849:exon1:c.24_25insCTG:p.L14_R15insL	.	403	1116	2	1	0	4	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00119808	0.0041	0.0018	0.0041	0	0	0.0058	0.0082	0.0015	0.00073	19	26028	rs564559094	0.0031	0.0031	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0035	0.0017	0.0020	0.0017	2.557e-05	0.0003	0.0020	0.0037	0.0039	0.0007	0.0022	0.0022	0.0024	0.0020	0.0034	0.0020	0.0019	0.0031	0.0029	0.0014	0	0.0019	0.0003	0	0.0005	0	0.0034	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1207.79	33	chr16	283193	.	A	ACTG	1207.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=647;ExcessHet=0.119;FS=0.993;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-0.207;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	17	0	2	0
chr16	284531	284531	C	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon2:c.C344T:p.T115M	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0030	0.00139776	0.0047	0.0006	0.0007	0.0001	0.0222	0.0059	0.0014	0.0019	0.0038292	592	154602	rs182349041	0.0047	0.0047	0.0047	0.0046	0.0048	0.0046	0.0045	0.0046	0.0046	0.0003	0.0007	0.0041	0.0002	0.0174	0.0023	0.0048	0.0043	0.0021	0.0043	0.0043	0.0040	0.0045	0.0058	0.0040	0.0039	0.0053	0.0051	0.0006	0	0.0013	0.0040	0.0004	0.0174	0	0.0058	0.0019	0.0017	0.006	0.61437	D	0.022	0.57587	D	0.847	0.46818	P	0.75	0.56031	P	0.631836	0.10680	N	0.816579	1	0.08975	N	0.965	0.23975	L	3.92	0.03462	T	-0.83	0.23590	N	0.48	0.51494	-0.9638	0.38448	T	0.016	0.06616	T	10	0.012411565	0.00267	T	.	.	.	0.086	0.25016	.	.	0.587058026133	0.58379	0.5243186002635831	0.52355	.	.	0.4394723773	0.30505	T	0.010785	0.09704	T	-0.522425	0.00426	T	-0.515242	0.20779	T	0.0429149134614305	0.04221	T	0.956904	0.83579	D	0.102028966	0.24104	0.119134404	0.28756	0.102028966	0.24104	0.119134404	0.28756	-8.824	0.66557	D	.	.	0.081	0.16054	B	.;.	.;.	1.979234	0.25141	16.66	0.99613626223670504	0.74992	0.11231	0.16496	N	AEFDBI	0.245371	0.36632	N	-0.346092156969214	0.27417	1.504001	-0.515101256597283	0.21743	1.177671	0.0583153876349015	0.15123	0.700653	0.57754	0	0.550933	0.16991	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.14	1.96	0.25203	0.354000	0.19885	1.643000	0.27803	0.517000	0.23534	0.000000	0.06391	0.911000	0.28135	0.034000	0.13613	0.1799:0.5367:0.176:0.1073	2.943	0.05479	753	0.51500	Thioredoxin domain|Thioredoxin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	116	chr16	284531	.	C	T	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=744;ExcessHet=0;FS=2.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.649;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	18	0	1	0
chr16	286701	286702	CT	-	exonic	PDIA2	.	frameshift deletion	PDIA2:NM_006849:exon9:c.1388_1389del:p.L464Qfs*13	.	420	1068	34	0	0	34	0.0156682	.	.	.	2810664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	0.00439297	0.0065	0.0012	0.0019	0	0.0200	0.0070	0.0115	0.0089	0.0011142	29	26028	rs201624048	0.0054	0.0054	0.0052	0.0057	0.0120	0.0053	0.0053	0.0097	0.0089	0.0007	0.0023	0.0176	2.519e-05	0.0202	0.0120	0.0046	0.0066	0.0084	0.0062	0.0062	0.0056	0.0068	0.0094	0.0058	0.0057	0.0072	0.0068	0.0005	0.0022	0.0029	0.0179	0	0.0217	0.0136	0.0075	0.0080	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011581	0.005051	0.010899	0.002941	0.000000	0.008621	0.006098	0.037879	0.02632	2342.29	40	chr16	286700	.	ACT	A	2342.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.264;DP=917;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=0.94;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.02632	1627.33	96	chr16	377699	.	C	G	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=1745;ExcessHet=0;FS=6.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.061;SOR=1.031	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	18	0	1	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A,RAB11FIP3:NM_014700:exon1:c.C424G:p.P142A	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008682	0.000000	0.004098	0.014881	0.000000	0.017857	0.012500	0.015152	0.02632	1655.33	34	chr16	426430	.	C	G	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.182;DP=772;ExcessHet=0;FS=2.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.19;SOR=0.504	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1170	18	0	1	0
chr16	553028	553063	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	exonic	CAPN15	.	frameshift deletion	CAPN15:NM_005632:exon13:c.3070_3083del:p.P1024Afs*33	.	394	1108	19	1	0	21	0.00938757	.	.	.	2810703	CAPN15-related_disorder|not_provided|Oculogastrointestinal-neurodevelopmental_syndrome	.|MedGen:C3661900|MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0021	0.0061	0.0001	0.0024	0.0119	0.0103	0.0029	5.17e-05	8	154602	rs1441582052	0.0061	0.0061	0.0060	0.0061	0.0077	0.0060	0.0059	0.0066	0.0065	0.0013	0.0043	0.0134	0	0.0035	0.0077	0.0067	0.0068	0.0024	0.0065	0.0071	0.0069	0.0061	0.0103	0.0062	0.0060	0.0096	0.0094	0.0016	0.0012	0.0055	0.0174	0	0.0022	0.0187	0.0103	0.0112	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	949.29	38	chr16	553027	.	GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G	949.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=1023;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.671;SOR=0.495	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,111,1665	18	0	1	0
chr16	633155	633155	G	C	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.G745C:p.V249L	.	299	1221	2	0	0	2	0.000818331	.	.	.	4098533	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.039681305472	.	0.000199681	6.488e-05	0.0001	0	0	0	5.054e-05	0	0.0002	5.17e-05	8	154602	rs569430619	1.723e-05	1.779e-05	1.505e-05	1.943e-05	0.0002	1.182e-05	9.99e-06	3.792e-05	2.679e-05	0	2.259e-05	0	0	0	0.0002	1.266e-05	3.341e-05	8.179e-05	7.221e-05	7.217e-05	5.138e-05	9.398e-05	0.0005	3.967e-05	3.124e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	2.94e-05	0	0.0002	0.023	0.48186	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999057	0.45965	D	0.41	0.12415	N	-0.24	0.66834	T	-1.71	0.40660	N	0.739	0.73916	-0.4935	0.68883	T	0.305	0.67612	T	10	0.71972674	0.73581	D	0.039681	0.58946	D	0.366	0.68582	0.624	0.75916	0.703810458386	0.70124	0.46626172297179036	0.46545	0.547174046333	0.51685	0.792344868183	0.80799	T	0.048725	0.28102	T	-0.0701754	0.41298	T	-0.10191	0.63249	T	0.354674786329269	0.27201	T	0.950905	0.81262	D	0.42970842	0.62733	0.284457	0.54444	0.42970842	0.62733	0.284457	0.54443	-3.66	0.18729	T	.	.	0.675	0.71929	P	.	.	4.458330	0.69369	25.4	0.99756719503719515	0.84694	0.92358	0.55527	D	AEFBCI	0.907041	0.86057	D	0.540173512139823	0.69485	5.363695	0.547118883619148	0.71194	5.618238	0.999999994895831	0.74766	0.650006	0.45971	0	0.759151	0.99529	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.7	3.67	0.41236	7.709000	0.83610	9.486000	0.80889	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1636:0.8364:0.0	12.992	0.58028	649	0.63102	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1825.33	37	chr16	633155	.	G	C	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.129;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	18	0	1	0
chr16	661707	661707	G	T	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon31:c.G3784T:p.A1262S	.	.	.	.	.	.	.	.	.	.	.	3356559	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0522882756544	7.9e-05	.	7.674e-05	0	8.681e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs376207789	6.301e-05	6.362e-05	5.996e-05	6.608e-05	0.0002	5.234e-05	4.851e-05	4.361e-05	3.491e-05	0.0001	0.0001	0.0004	0	0	0.0002	4.947e-05	0.0002	6.957e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.349	0.12345	T	0.195	0.28120	T	0.818	0.61118	P	0.367	0.47728	B	0.362297	0.13652	U	0.660669	0.999995	0.08975	N	1.55	0.39271	L	0.78	0.49358	T	-1.39	0.34397	N	0.375	0.41656	-0.9754	0.36037	T	0.112	0.40099	T	10	0.0804134	0.13050	T	0.052288	0.65009	D	0.105	0.29889	.	.	0.130388298395	0.12655	0.19952054490991858	0.19869	0.382605790772	0.39592	0.266434103251	0.05681	T	0.016818	0.13832	T	-0.356113	0.04355	T	-0.545708	0.17740	T	0.0421468115376631	0.04081	T	0.586041	0.21717	T	0.085423075	0.19814	0.051656444	0.08358	0.085423075	0.19814	0.051656444	0.08357	-5.077	0.37664	T	.	.	0.097	0.15609	B	.;.	.;.	0.135193	0.05303	1.794	0.98566730590083307	0.43051	0.19624	0.20733	N	AEFDGBI	0.149542	0.27365	N	-0.675350488070512	0.16726	0.8546828	-0.838246088771422	0.13571	0.7047149	0.999986101129734	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.63	0.256	0.14825	1.090000	0.30514	-0.393000	0.09462	-0.118000	0.14412	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	0.2807:0.2428:0.363:0.1135	1.686	0.02670	654	0.62520	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001362	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1784.33	186	chr16	661707	.	G	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=2457;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.273;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:137,0:137:99:.:.:0,120,1800:.	18	0	1	0
chr16	666543	666543	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon38:c.G4829A:p.R1610Q	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0150687382112	0.0024	0.000399361	0.0033	0.0008	0.0011	0	0.0099	0.0045	0.0046	0.0002	0.0030207	467	154602	rs200445238	0.0037	0.0037	0.0038	0.0035	0.0038	0.0036	0.0035	0.0037	0.0036	0.0009	0.0010	0.0123	0	0.0103	0.0026	0.0038	0.0032	0.0003	0.0031	0.0031	0.0031	0.0031	0.0040	0.0029	0.0028	0.0036	0.0035	0.0006	0	0.0010	0.0107	0.0002	0.0105	0.0034	0.0040	0.0033	0.0002	0.41	0.13306	T	0.434	0.13557	T	0.074	0.24142	B	0.005	0.13708	B	0.176318	0.17228	N	0.581348	1	0.08975	N	0.585	0.15399	N	1.66	0.65006	T	-0.45	0.35597	N	0.189	0.20660	-0.9782	0.35413	T	0.087	0.33690	T	10	0.004381418	0.00089	T	0.015069	0.35586	T	0.029	0.06676	.	.	0.134241683229	0.13084	0.3200287605300559	0.31915	0.132204958427	0.14900	0.17972561717	0.00091	T	0.009083	0.08288	T	-0.486079	0.00683	T	-0.470042	0.25511	T	0.00531929489151746	0.00058	T	0.811219	0.46649	T	0.018097382	0.00332	0.027702805	0.00943	0.018097382	0.00332	0.027702805	0.00943	-5.137	0.38295	T	.	.	0.062	0.02639	B	.;.;.	.;.;.	0.232145	0.06131	2.579	0.97370586110055846	0.33622	0.01741	0.05494	N	AEFBI	0.065873	0.12872	N	-1.28501229149179	0.03855	0.1729725	-1.30020059666388	0.04429	0.2088569	0.999965336122427	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.75	-4.75	0.03003	0.356000	0.19918	-3.948000	0.02434	-0.114000	0.14653	0.166000	0.23880	0.000000	0.08366	0.045000	0.14751	0.8083:0.0:0.1917:0.0	13.935	0.63529	649	0.63102	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2221.33	80	chr16	666543	.	G	A	2221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=1469;ExcessHet=0;FS=5.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.09;SOR=0.989	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr16	666739	666739	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon39:c.G4951A:p.V1651M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.122975252903	.	.	1.677e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs746230794	6.162e-06	6.156e-06	4.087e-06	8.258e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.051	0.41637	T	0.02	0.58613	D	0.996	0.73220	D	0.742	0.61700	P	0.689860	0.10185	U	0.837650	0.999834	0.20152	N	2.135	0.59519	M	3.34	0.67011	T	-1.25	0.40850	N	0.145	0.34874	-0.7770	0.56470	T	0.332	0.69919	T	10	0.17171967	0.31905	T	0.122975	0.80405	D	0.102	0.29158	0.527	0.63263	0.242244723065	0.23846	0.33949312622946076	0.33862	0.547044844208	0.51677	0.328972965479	0.14778	T	0.038396	0.24824	T	-0.120809	0.32992	T	-0.328445	0.41643	T	0.443010167517364	0.30540	T	0.80392	0.46649	T	0.03885748	0.05257	0.05266818	0.08721	0.03885748	0.05256	0.05266818	0.08721	-8.183	0.62310	D	.	.	0.181	0.42259	B	.;.;.;.	.;.;.;.	3.134422	0.42367	21.5	0.99573219403945501	0.72501	0.12107	0.17064	N	AEFGBI	0.124030	0.23990	N	-0.157859529637706	0.34902	1.998036	-0.364798967094195	0.26054	1.436737	0.999969004608453	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	2.49	0.29274	1.723000	0.37675	1.810000	0.28954	-0.165000	0.11486	0.006000	0.17386	0.006000	0.19429	0.000000	0.00833	0.1909:0.0:0.6319:0.1771	4.527	0.11390	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	80	chr16	666739	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1378;ExcessHet=0;FS=3.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.563;SOR=0.448	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr16	667566	667566	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon41:c.G5224A:p.V1742M	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.00279553	0.0020	0	0.0002	0.0001	0	1.548e-05	0.0012	0.0143	0.0016753	259	154602	rs201597639	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	2.987e-05	2.237e-05	0	2.519e-05	0	0.0003	4.497e-06	0.0008	0.0133	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0.0002	0	0	0	0	0.0120	0.009	0.57480	D	0.041	0.50514	D	0.93	0.56408	P	0.527	0.57058	P	0.000470	0.44119	U	0.093576	1	0.81001	D	2.19	0.61577	M	3.18	0.69777	T	-1.78	0.46673	N	0.242	0.32812	-0.4775	0.69458	T	0.329	0.69716	T	10	0.011935383	0.00259	T	.	.	.	0.158	0.41098	0.52	0.62217	0.316788114976	0.31282	0.271521310689603	0.27065	0.546399409518	0.51636	0.475173652172	0.35393	T	0.040457	0.25533	T	-0.290785	0.09557	T	-0.178793	0.56635	T	0.0647677809351308	0.07897	T	0.819918	0.48860	T	0.108039156	0.25547	0.14967738	0.35332	0.108039156	0.25547	0.14967738	0.35331	-5.391	0.40833	T	.	.	0.199	0.50073	B	.;.;.;.	.;.;.;.	3.443168	0.47909	22.5	0.99023980190399763	0.50634	0.51117	0.28821	D	AEFGBCI	0.115350	0.22684	N	-0.0311280158558632	0.40451	2.40233	-0.0510547452822444	0.37444	2.192505	0.999999475245188	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.592323	0.36904	0	.	.	4.9	2.93	0.33092	1.713000	0.37570	5.462000	0.48674	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.171:0.0:0.829:0.0	9.728	0.39508	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	1260.33	82	chr16	667566	.	G	A	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.15;DP=1253;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.148;SOR=0.857	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr16	683700	683700	A	G	exonic	JMJD8	.	nonsynonymous SNV	JMJD8:NM_001323920:exon3:c.T217C:p.Y73H,JMJD8:NM_001323922:exon3:c.T217C:p.Y73H,JMJD8:NM_001005920:exon4:c.T307C:p.Y103H,JMJD8:NM_001323918:exon4:c.T307C:p.Y103H,JMJD8:NM_001323919:exon4:c.T307C:p.Y103H	.	408	1113	1	0	0	1	0.000449035	.	.	.	3448133	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.015116565888	.	0.000399361	0.0004	0	0.0004	0	0	2.974e-05	0.0022	0.0017	0.0001617	25	154602	rs550639526	8.741e-05	8.687e-05	4.515e-05	0.0001	0.0013	7.466e-05	7.012e-05	0.0011	0.0010	0	6.871e-05	0	0	0	0.0003	9.922e-06	4.996e-05	0.0013	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.345	0.12511	T	0.415	0.14326	T	.	.	.	.	.	.	0.000034	0.55875	D	0.124091	0.975696	0.81001	D	.	.	.	1.96	0.22270	T	-0.06	0.11366	N	0.363	0.44090	-1.0611	0.11483	T	0.032	0.13723	T	10	0.02399394	0.00645	T	0.015117	0.35666	T	0.058	0.16647	.	.	0.146414634003	0.14194	0.589941215034345	0.58924	0.0272738909129	0.02785	0.622760891914	0.56119	T	0.010504	0.09483	T	-0.560411	0.00252	T	-0.62332	0.10926	T	0.0565920671433829	0.06621	T	0.880912	0.69728	D	0.12301032	0.28893	0.24850446	0.50403	0.12301032	0.28893	0.24850446	0.50402	-7.127	0.54955	T	.	.	0.223	0.52776	B	.;.;.;.	.;.;.;.	3.152062	0.42675	21.6	0.76604272361536374	0.11535	0.96365	0.68782	D	AEFDGBHCI	0.528628	0.55007	D	-0.402109141549209	0.25395	1.378236	-0.320560947648325	0.27434	1.522335	0.99999999999598	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.02	2.92	0.32998	3.438000	0.52634	9.056000	0.78652	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.467000	0.28274	0.9012:0.0:0.0988:0.0	8.157	0.30337	628	0.65206	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1351.33	43	chr16	683700	.	A	G	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.007;SOR=0.743	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	18	0	1	0
chr16	697179	697179	G	A	exonic	FBXL16	.	nonsynonymous SNV	FBXL16:NM_153350:exon2:c.C227T:p.P76L	.	443	1060	18	1	0	20	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.303235837578	.	0.00159744	0.0008	0	0.0006	0.0002	0	0.0002	0.0039	0.0058	0.0005757	89	154602	rs546035990	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0043	9.255e-05	0.0005	0	5.119e-05	0	0.0019	9.722e-05	0.0007	0.0049	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0029	2.423e-05	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0050	0.055	0.38407	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.377362	0.04399	N	1.363540	0.999999	0.08975	N	1.1	0.28011	L	-1.66	0.82715	D	0.05	0.06369	N	0.081	0.05670	-0.8396	0.52673	T	0.336	0.70240	T	10	0.006508887	0.00147	T	0.303236	0.90951	D	0.247	0.55478	.	.	0.043077524339	0.03247	0.1932414902649941	0.19242	0.541579872358	0.51303	0.547271966934	0.45472	T	0.023791	0.18095	T	-0.500643	0.00567	T	-0.491512	0.23232	T	0.00867409649268681	0.00106	T	0.415458	0.10884	T	0.0373176	0.04761	0.06367278	0.12647	0.0373176	0.04761	0.06367278	0.12646	-4.061	0.24713	T	.	.	0.069	0.03372	B	.;.	.;.	1.601706	0.20476	14.77	0.7419711608897287	0.10606	0.31140	0.24262	N	AEFBI	0.126407	0.24334	N	-1.42038254293234	0.02460	0.1086549	-1.37888627048301	0.03478	0.1623141	0.180202301815477	0.17861	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.04	1.98	0.25351	1.229000	0.32202	4.336000	0.43042	-0.391000	0.05343	0.887000	0.31133	0.987000	0.30940	0.004000	0.06068	0.0836:0.0:0.7731:0.1433	9.957	0.40843	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002035	0.000000	0.000000	0.002959	0.000000	0.008772	0.003125	0.003817	0.05263	1309.83	46	chr16	697179	.	G	A	1309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.95;DP=643;ExcessHet=0.119;FS=2.178;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=1.41;SOR=1.133	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	2	0
chr16	716974	716974	G	A	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.G547A:p.A183T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00571539674708	.	.	2.762e-05	0	0	0	0	4.88e-05	0	0	3.23e-05	5	154602	rs754170916	1.449e-05	2.531e-05	8.23e-06	2.083e-05	2.529e-05	9.31e-06	7.9e-06	1.018e-05	8.4e-06	0	0	0	2.529e-05	0	0	1.629e-05	3.341e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.07	0.47828	T	0.068	0.23728	B	0.014	0.16862	B	0.010445	0.29920	N	0.313360	1	0.20548	N	2.2	0.62015	M	1.57	0.29342	T	-0.54	0.18670	N	0.191	0.21056	-1.0262	0.21690	T	0.067	0.27468	T	9	0.17910671	0.33029	T	0.005715	0.14802	T	0.056	0.15993	0.446	0.50466	0.0551355673512	0.04727	0.5772410575240071	0.57653	0.556899901416	0.52327	0.476079583168	0.35518	T	0.034587	0.23434	T	-0.160333	0.26709	T	-0.398246	0.33588	T	0.378901094198227	0.28140	T	0.90091	0.76886	D	0.069902115	0.15352	0.07861754	0.17625	0.069902115	0.15352	0.07861754	0.17625	-4.745	0.33944	T	.	.	0.105	0.25785	B	.;.;.	.;.;.	2.127845	0.27087	17.34	0.98063972763152307	0.37968	0.08609	0.14514	N	AEFDBCI	0.171842	0.29884	N	-0.812018462998977	0.13002	0.6375901	-0.860518301309743	0.13034	0.6739785	0.999999634200481	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.09	2.06	0.25932	1.812000	0.38590	1.912000	0.29653	0.675000	0.71128	0.011000	0.18532	0.120000	0.22892	0.130000	0.19568	0.2077:0.0:0.5984:0.1939	3.715	0.07964	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2540.33	35	chr16	716974	.	G	A	2540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.184;DP=851;ExcessHet=0;FS=3.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.599;SOR=0.484	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr16	717164	717164	C	T	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon4:c.C659T:p.P220L	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00226248385481	0.0014	0.00119808	0.0014	0.0041	0.0005	0	0	0.0003	0	0.0058	0.0008473	131	154602	rs150417120	0.0006	0.0006	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0042	0.0003	0	2.543e-05	0	0.0030	0.0001	0.0007	0.0052	0.0014	0.0014	0.0013	0.0015	0.0052	0.0012	0.0012	0.0036	0.0031	0.0037	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0052	0.696	0.04226	T	0.684	0.23984	T	0.0	0.02946	B	0.0	0.01387	B	0.046368	0.23446	N	0.420026	1	0.08975	N	-1.95	0.00216	N	1.71	0.26737	T	1.45	0.00835	N	0.044	0.12770	-0.9802	0.34955	T	0.017	0.06759	T	9	0.0034618378	0.00061	T	0.002262	0.04314	T	.	.	.	.	0.0551355673512	0.04727	0.40429874683861805	0.40345	0.264844217052	0.29036	0.344975709915	0.17180	T	0.003143	0.02546	T	-0.579012	0.00195	T	-0.603534	0.12516	T	0.00177680713760877	0.00018	T	0.60384	0.22664	T	0.021980561	0.00832	0.024941843	0.00524	0.021980561	0.00832	0.024941843	0.00524	-3.034	0.10552	T	.	.	0.051	0.00259	B	.;.	.;.	0.377872	0.07500	4.142	0.79010860548426631	0.12550	0.00887	0.03492	N	AEFGBHCI	0.086726	0.17585	N	-1.48553118158024	0.01952	0.08568558	-1.39632914982578	0.03291	0.1532207	0.999998413834424	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.493711	0.08198	1	0.699875	0.68795	0	.	.	4.94	1.36	0.21139	1.467000	0.34930	-0.273000	0.10332	-0.131000	0.13161	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2552:0.161:0.5838	4.444	0.11009	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008603	0.000000	0.009537	0.005952	0.000000	0.008621	0.000000	0.018939	0.05263	5135.83	35	chr16	717164	.	C	T	5135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=1069;ExcessHet=0.119;FS=5.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.59	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	17	0	2	0
chr16	722680	722680	A	C	exonic	CCDC78	.	stoploss	CCDC78:NM_001378033:exon10:c.T844G:p.X282E,CCDC78:NM_001378031:exon12:c.T1231G:p.X411E,CCDC78:NM_001378030:exon14:c.T1411G:p.X471E	Myopathy, centronuclear, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.684e-06	0	0	0	0	0	0	6.16e-05	6.5e-06	1	154602	rs775622579	4.816e-06	4.788e-06	2.739e-06	6.912e-06	6.959e-05	2e-06	1.29e-06	2.996e-05	2.038e-05	0	0	0	0	0	0	8.995e-07	0	6.959e-05	1.315e-05	1.313e-05	0	2.69e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	38	chr16	722680	.	A	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-1.479;SOR=0.695	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr16	723106	723106	G	A	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon8:c.C622T:p.R208C,CCDC78:NM_001378031:exon10:c.C1009T:p.R337C,CCDC78:NM_001031737:exon12:c.C1189T:p.R397C,CCDC78:NM_001378030:exon12:c.C1189T:p.R397C	Myopathy, centronuclear, 4, Autosomal dominant	8	1513	1	0	0	1	0.00033036	.	.	.	693925	not_provided|Congenital_myopathy_with_internal_nuclei_and_atypical_cores	MedGen:C3661900|MONDO:MONDO:0013890,MedGen:C4707232,OMIM:614807,Orphanet:319160	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.0214364859583	.	0.000599042	0.0005	0	0.0003	0	0	3.08e-05	0	0.0031	0.0003816	59	154602	rs559942514	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	8.961e-05	0.0003	0	5.038e-05	0	0	8.184e-05	0.0002	0.0028	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	4.808e-05	0	0.0009	0	0	0	0	2.94e-05	0	0.0035	0.008	0.58626	D	0.001	0.83351	D	0.999	0.77913	D	0.881	0.62579	P	0.372813	0.13502	N	0.655217	0.97254	0.40950	N	0.805	0.20218	L	1.08	0.39401	T	-3.43	0.67359	D	0.192	0.21056	-0.9645	0.38310	T	0.151	0.47874	T	10	0.005176753	0.00112	T	0.021436	0.44208	T	0.182	0.45420	0.333	0.32005	0.365703291355	0.36175	0.05575818867710843	0.05516	0.406424725356	0.41517	0.20194002986	0.00515	T	0.064776	0.32521	T	-0.412932	0.01901	T	-0.368975	0.37008	T	0.0985983047276081	0.12203	T	0.712229	0.32360	T	0.11928229	0.28089	0.12373641	0.29834	0.1290437	0.30152	0.122293144	0.29500	-4.689	0.33270	T	0.501813926550062	0.57690	0.102	0.18080	B	.	.	3.351276	0.46219	22.3	0.9960859800340347	0.74634	0.76153	0.37328	D	AEFDGBCI	0.247811	0.36832	N	-0.132200721614151	0.35995	2.074738	-0.308041431994369	0.27839	1.547593	0.999951592245843	0.48110	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.38	1.01	0.19044	1.065000	0.30202	2.442000	0.32776	-0.106000	0.15538	0.003000	0.16062	0.977000	0.30130	0.009000	0.08673	0.0:0.1459:0.5526:0.3015	8.832	0.34246	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	2583.83	47	chr16	723106	.	G	A	2583.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=851;ExcessHet=0.119;FS=1.26;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.299;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	17	0	2	0
chr16	728857	728857	T	C	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon6:c.T562C:p.C188R,HAGHL:NM_001290137:exon7:c.T562C:p.C188R,HAGHL:NM_001290139:exon7:c.T562C:p.C188R,HAGHL:NM_001323635:exon7:c.T562C:p.C188R,HAGHL:NM_001323636:exon7:c.T562C:p.C188R,HAGHL:NM_001365282:exon7:c.T562C:p.C188R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0773881215239	0.0002	0.000998403	0.0009	0	0.0003	0	0	0.0003	0	0.0048	0.0006274	97	154602	rs149082510	0.0005	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.034e-05	0.0003	0	0	0	0.0026	0.0001	0.0005	0.0052	0.0004	0.0004	0.0003	0.0005	0.0055	0.0003	0.0003	0.0038	0.0033	0	0	0.0001	0	0.0002	0	0.0176	0.0003	0.0010	0.0055	0.52	0.22312	T	0.531	0.21478	T	0.011	0.32608	B	0.003	0.24975	B	0.949066	0.07644	N	1.023790	0.999996	0.08975	N	0.345	0.11182	N	-3.65	0.95179	D	-0.35	0.15578	N	0.046	0.06322	-0.4036	0.71914	T	0.519	0.82009	D	10	0.011203229	0.00246	T	0.077388	0.72759	D	0.188	0.46444	.	.	0.33110744837	0.32714	0.3462574308157688	0.34539	0.342726518813	0.36201	0.48286563158	0.36451	T	0.014856	0.14410	T	-0.287706	0.09868	T	-0.185231	0.56036	T	0.012360876234623	0.00202	T	0.218178	0.02774	T	0.16949926	0.37469	0.08519172	0.19652	0.16949926	0.37469	0.08519172	0.19651	-4.033	0.24296	T	.	.	0.118	0.24226	B	.;.;.;.	.;.;.;.	0.945708	0.13218	9.717	0.628519671272458	0.07069	0.21238	0.21331	N	AEFDGBHCI	0.313896	0.41892	N	-1.15548025119938	0.05690	0.2600612	-1.23826192218242	0.05307	0.252553	0.999999999998732	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.74	-5.67	0.02247	0.184000	0.16748	-5.007000	0.01889	-0.157000	0.11712	0.014000	0.18986	0.000000	0.08366	0.825000	0.38878	0.3067:0.1819:0.3362:0.1753	0.782	0.00976	658	0.62094	.;.;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.005435	0.005882	0.000000	0.017241	0.000000	0.018939	0.05263	2385.83	36	chr16	728857	.	T	C	2385.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.341;DP=1057;ExcessHet=0.119;FS=1.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=2.53;SOR=0.525	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	17	0	2	0
chr16	729430	729430	C	A	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_001323636:exon8:c.C743A:p.A248D,HAGHL:NM_032304:exon8:c.C823A:p.L275I,HAGHL:NM_001290137:exon9:c.C823A:p.L275I,HAGHL:NM_001290139:exon9:c.C823A:p.L275I,HAGHL:NM_001323635:exon9:c.C823A:p.L275I	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	.	0.0091853	0.0324	0.0068	0.0192	0	.	0.0042	0.0161	0.0464	0.003357	519	154602	rs372809550	0.0037	0.0037	0.0023	0.0052	0.0513	0.0037	0.0036	0.0499	0.0494	0.0004	0.0009	0.0048	0.0027	0.0014	0.0021	0.0005	0.0051	0.0513	0.0025	0.0025	0.0018	0.0033	0.0530	0.0023	0.0022	0.0477	0.0456	0.0004	0	0.0021	0.0017	0.0027	0.0008	0	0.0006	0.0057	0.0530	0.016	0.51853	D	0.04	0.50809	D	0.872	0.47902	P	0.495	0.47504	P	.	.	.	.	1	0.81001	D	.	.	.	-3.88	0.95953	D	-0.39	0.13611	N	0.414	0.45426	0.249	0.86726	D	0.773	0.92300	D	8	0.0046382844	0.00097	T	.	.	.	0.283	0.60100	.	.	.	.	0.3518972202698721	0.35103	0.704196183735	0.61298	0.560136079788	0.47287	T	.	.	.	-0.274487	0.11262	T	-0.126832	0.61236	T	0.0228496833204264	0.01006	T	0.719828	0.33277	T	.	.	.	.	.	.	.	.	-5.681	0.43524	T	.	.	0.178	0.38871	B	.	.	2.602131	0.33775	19.44	0.98784422998090271	0.46190	0.61405	0.31475	D	AEFGBHCI	0.295734	0.40577	N	-0.185755344916459	0.33726	1.916763	-0.311073570410351	0.27740	1.541444	0.999999985379019	0.74766	0.650006	0.45971	0	0.581341	0.33841	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	3.04	1.0	0.18999	0.271000	0.18390	1.089000	0.23963	-0.180000	0.10397	0.003000	0.16062	0.013000	0.20296	0.100000	0.18284	0.1913:0.5749:0.0:0.2338	3.735	0.08034	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007453	0.000000	0.000000	0.012712	0.000000	0.000000	0.012000	0.010417	0.02632	776.33	35	chr16	729430	.	C	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.388;DP=767;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.096;SOR=0.658	GT:AD:DP:GQ:PL	0/1:36,33:69:99:790,0,956	18	0	1	0
chr16	764988	764988	G	T	exonic	MSLN	.	nonsynonymous SNV	MSLN:NM_013404:exon7:c.G462T:p.R154S,MSLN:NM_001177355:exon8:c.G462T:p.R154S,MSLN:NM_005823:exon8:c.G462T:p.R154S	.	424	1097	0	1	0	2	0.000910747	.	.	.	4029573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.00270536254645	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs552877065	0.0001	0.0001	8.315e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0023	4.594e-05	4.593e-05	1.284e-05	8.054e-05	0.0014	2.107e-05	1.525e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.245	0.40573	T	0.016	0.92824	D	0.969	0.58077	D	0.556	0.56031	P	0.610480	0.10871	N	0.729752	1	0.08975	N	2.3	0.65703	M	2.21	0.18414	T	-0.65	0.36980	N	0.21	0.28146	-1.0438	0.16177	T	0.054	0.22959	T	10	0.03643316	0.01941	T	0.002705	0.05550	T	0.133	0.36157	0.775	0.90080	0.455173453901	0.45141	0.4005544989652858	0.39970	0.108920095082	0.12281	0.403281629086	0.25526	T	0.056946	0.30429	T	-0.522683	0.00424	T	-0.529122	0.19374	T	0.072925417468369	0.09055	T	0.516048	0.17353	T	0.1384673	0.32023	0.0546971	0.09458	0.1384673	0.32023	0.0546971	0.09457	-5.148	0.38584	T	.	.	0.250	0.54353	B	.;.;.;.;.;.	.;.;.;.;.;.	1.417000	0.18331	13.68	0.87077010031010293	0.16972	0.02943	0.07767	N	AEFBI	0.100674	0.20237	N	-0.57119550523393	0.19825	1.040554	-0.808187869271403	0.14297	0.7463228	0.0130593984321095	0.12410	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.5	0.035	0.13504	0.111000	0.15292	0.166000	0.15462	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1466:0.4543:0.3991:0.0	4.602	0.11749	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003817	0.02632	689.33	40	chr16	764988	.	G	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=674;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=1.74;SOR=0.625	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1200	18	0	1	0
chr16	797694	797694	C	G	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon21:c.C2734G:p.P912A	.	.	.	.	.	.	.	.	0.0012	0.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0160529497562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs576984915	1.37e-06	1.368e-06	1.363e-06	1.377e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.40573	T	0.188	0.28669	T	0.996	0.68779	D	0.817	0.59784	P	0.000007	0.62929	D	0.112188	0.999938	0.51612	D	3.02	0.86243	M	2.74	0.11730	T	-3.11	0.63669	D	0.278	0.35832	-1.1418	0.01292	T	0.069	0.28379	T	9	0.21871614	0.38521	T	0.016053	0.37112	T	0.095	0.27398	0.233	0.16155	0.107399877778	0.10242	0.22964399424668214	0.22879	.	.	0.352674722672	0.18315	T	0.290284	0.66305	T	-0.18231	0.23392	T	-0.499652	0.22383	T	0.934304714202881	0.60168	D	0.682032	0.29067	T	0.09303396	0.21842	0.088506356	0.20641	0.09303396	0.21842	0.088506356	0.20641	-5.8	0.44574	T	.	.	0.079	0.07272	B	.;.;.;.	.;.;.;.	2.639164	0.34336	19.60	0.99013211029512627	0.50420	0.92211	0.55193	D	AEFDBI	0.234169	0.35697	N	0.218946115780321	0.52119	3.388042	0.0958886599659969	0.44340	2.717767	0.989854692390523	0.31956	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.54	2.56	0.29842	1.790000	0.38366	2.870000	0.35260	-0.264000	0.06851	0.979000	0.35152	1.000000	0.68203	0.166000	0.20848	0.1587:0.6884:0.1529:0.0	9.744	0.39602	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	623.33	35	chr16	797694	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.556;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.471;SOR=0.709	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr16	813335	813335	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon3:c.C683T:p.A228V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00293376741044	.	.	0.0001	0	0	0	0	0	0	0.0010	6.5e-06	1	154602	rs771813446	9.51e-06	9.577e-06	2.866e-06	1.644e-05	0.0002	5.31e-06	4.09e-06	9.28e-05	7.268e-05	0	0	0	0	0	0.0002	0	0	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	35	chr16	813335	.	C	T	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.026;DP=721;ExcessHet=0;FS=3.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.586;SOR=1.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	18	0	1	0
chr16	813608	813608	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon3:c.C956T:p.T319M	.	420	1100	2	0	0	2	0.000908265	.	.	.	3584591	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00282089614422	.	0.000199681	0.0001	0	0.0002	0	0	6.733e-05	0	0.0004	6.47e-05	10	154602	rs569940908	6.866e-05	7.046e-05	5.373e-05	8.381e-05	0.0006	5.748e-05	5.333e-05	0.0005	0.0004	0	4.671e-05	0	0	0	0	4.073e-05	5.021e-05	0.0006	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1107.33	39	chr16	813608	.	C	T	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.272;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.385;SOR=0.744	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	869948	869948	G	A	exonic	LMF1	.	nonsynonymous SNV	LMF1:NM_001352019:exon9:c.C1024T:p.R342W,LMF1:NM_001352021:exon9:c.C700T:p.R234W,LMF1:NM_022773:exon9:c.C1351T:p.R451W,LMF1:NM_001352017:exon10:c.C700T:p.R234W,LMF1:NM_001352018:exon10:c.C952T:p.R318W	Lipase deficiency, combined, Autosomal recessive	0	1473	46	3	0	52	0.0173449	.	.	.	715141	not_specified|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0036	0.00319489	0.0044	0.0009	0.0029	0.0002	0.0003	0.0051	0.0024	0.0085	0.0040103	620	154602	rs138205062	0.0032	0.0032	0.0030	0.0035	0.0097	0.0032	0.0031	0.0077	0.0070	0.0003	0.0029	0.0307	7.557e-05	0.0002	0.0097	0.0025	0.0046	0.0077	0.0027	0.0027	0.0027	0.0028	0.0089	0.0025	0.0024	0.0068	0.0061	0.0005	0.0011	0.0024	0.0308	0	0.0002	0.0170	0.0028	0.0043	0.0089	0.001	0.78490	D	0.047	0.48855	D	1.0	0.90584	D	0.953	0.69275	D	0.000529	0.43581	D	0.191670	0.999913	0.22847	N	2.495	0.72670	M	1.84	0.24656	T	-6.24	0.91653	D	0.519	0.54932	-0.9274	0.44516	T	0.106	0.38808	T	10	0.019373447	0.00432	T	.	.	.	0.197	0.47942	.	.	0.415313616471	0.41148	0.8682073029833872	0.86785	0.065644791509	0.07326	0.42916893959	0.29095	T	0.236001	0.60339	T	-0.299973	0.08661	T	-0.198399	0.54798	T	0.0429254642760061	0.04223	T	0.978802	0.92845	D	0.4533618	0.64254	0.5101485	0.71692	0.43992075	0.63398	0.51760584	0.72129	-9.475	0.71492	D	.	.	0.111	0.37914	B	.;.;.	.;.;.	5.004734	0.83070	27.9	0.99839277043859609	0.91972	0.16400	0.19371	N	AEFBI	0.551345	0.56345	D	0.0530719007377787	0.44284	2.705245	-0.132828435333843	0.34075	1.956122	1.31906305284255E-4	0.05486	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.16	1.68	0.23219	0.806000	0.26786	3.298000	0.37359	0.676000	0.76740	0.130000	0.23345	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.5675:0.4325	13.727	0.62249	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010585	0.005051	0.009511	0.014793	0.000000	0.008621	0.015337	0.007576	0.05263	2623.83	114	chr16	869948	.	G	A	2623.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.827;DP=813;ExcessHet=0.119;FS=1.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=2.12;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1211	17	0	2	0
chr16	1093513	1093529	GGCCGGCTTGACCAGGT	-	exonic	C1QTNF8	.	frameshift deletion	C1QTNF8:NM_207419:exon4:c.731_747del:p.H244Rfs*125	.	342	1176	4	0	0	4	0.00169779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0004	0.0035	0	0	0.0015	0	0.0023	0.0002305	6	26028	rs774542059	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0007	0.0008	0.0008	0.0001	0.0008	0	0	0	0.0013	0.0009	0.0007	0.0009	0.0008	0.0008	0.0009	0.0007	0.0037	0.0007	0.0006	0.0029	0.0026	0.0002	0	0.0037	0	0	9.432e-05	0	0.0008	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	726.29	34	chr16	1093512	.	CGGCCGGCTTGACCAGGT	C	726.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.824;DP=757;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.291;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,936	18	0	1	0
chr16	1195509	1195509	G	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon4:c.G489C:p.Q163H,CACNA1H:NM_021098:exon4:c.G489C:p.Q163H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1451	66	5	0	76	0.0255205	.	.	.	465730	not_provided|Epilepsy,_childhood_absence,_susceptibility_to,_6|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.589	.	0.0017	0.00499201	0.0091	0.0009	0.0046	0	0.0119	0.0073	0.0165	0.0222	0.0041591	643	154602	rs60593994	0.0041	0.0041	0.0036	0.0045	0.0208	0.0040	0.0039	0.0178	0.0167	0.0008	0.0024	0.0046	5.098e-05	0.0052	0.0208	0.0032	0.0048	0.0170	0.0036	0.0036	0.0032	0.0041	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0022	0.0029	0.0049	0.0006	0.0076	0.0102	0.0043	0.0043	0.0162	0.061	0.37118	T	0.028	0.54934	D	0.051	0.73220	B	0.044	0.67021	B	0.187939	0.16925	N	0.589948	0.933575	0.26992	N	0.755	0.19153	N	-4.96	0.98448	D	-2.3	0.51157	N	0.487	0.53445	0.503	0.90584	D	0.856	0.95210	D	10	0.009828389	0.00221	T	.	.	.	0.589	0.83582	0.492	0.57890	0.907716034186	0.90679	0.6053794673270226	0.60468	.	.	0.537974953651	0.44159	T	0.579796	0.86222	D	-0.154178	0.27659	T	0.0193832	0.71591	D	0.0115321058971988	0.00174	T	0.868713	0.57175	D	0.3267669	0.55205	0.17381215	0.39733	0.27811882	0.50866	0.23346187	0.48535	-4.751	0.34015	T	0.2448169002887968	0.33160	0.276	0.54492	B	.;.;.;.	.;.;.;.	3.993221	0.58790	24.0	0.99663114981693679	0.78074	0.76265	0.37391	D	AEFDBHCI	0.382935	0.46463	N	-0.0927476318306143	0.37709	2.197865	-0.0337636271135359	0.38200	2.247254	0.945066235711583	0.27644	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.69	2.7	0.31007	1.632000	0.36715	1.521000	0.27092	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.096:0.0:0.904:0.0	10.865	0.46058	946	0.12043	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021673	0.020202	0.012262	0.020468	0.000000	0.043103	0.021472	0.022901	0.07895	6600.77	35	chr16	1195509	.	G	C	6600.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.311;DP=957;ExcessHet=0;FS=1.969;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.348;SOR=0.581	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	17	1	1	0
chr16	1204250	1204250	C	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon10:c.C2243T:p.A748V,CACNA1H:NM_021098:exon10:c.C2243T:p.A748V	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1871358	Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.509	0.185598457647	.	.	7.811e-05	0	0	0.0008	0	3.541e-05	0	0	5.82e-05	9	154602	rs770371468	1.44e-05	1.573e-05	1.774e-05	1.103e-05	0.0003	9.26e-06	7.86e-06	0.0002	0.0001	0	0	3.84e-05	0.0003	0	0	5.402e-06	0	2.329e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.326	0.13306	T	0.392	0.15406	T	0.004	0.14655	B	0.001	0.10090	B	0.156111	0.17809	N	0.591999	1	0.08975	N	0.375	0.12094	N	-4.01	0.96370	D	-0.78	0.21644	N	0.12	0.11054	-0.2982	0.75035	T	0.537	0.82873	D	10	0.30545536	0.48063	T	0.185598	0.85822	D	0.509	0.78910	0.734	0.86719	0.996217624761	0.99617	0.23681888222551375	0.23596	.	.	0.518790125847	0.41456	T	0.158373	0.50136	T	-0.123742	0.32514	T	-0.043259	0.67482	D	0.016391337686497	0.00407	T	0.484852	0.14769	T	0.0328069	0.03377	0.030445065	0.01501	0.027638767	0.01983	0.029379534	0.01269	-5.676	0.43479	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	0.300867	0.06766	3.282	0.94717965231948165	0.25387	0.04852	0.10586	N	AEFDBI	0.092816	0.18786	N	-1.57166520746831	0.01412	0.06156969	-1.64165903082377	0.01420	0.06418215	0.00780499735352428	0.11547	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.81	-4.33	0.03423	-0.426000	0.07076	-2.898000	0.03250	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3588:0.2748:0.0:0.3664	2.759	0.04975	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001514	0.000000	0.001366	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1976.33	34	chr16	1204250	.	C	T	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.09;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	18	0	1	0
chr16	1241546	1241546	G	A	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon4:c.G346A:p.A116T	.	.	.	.	.	.	.	.	.	.	.	2340871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.345	0.247432411414	.	.	0.0025	0.0030	0.0010	0.0070	0	0.0031	0	0.0009	3.84e-05	1	26028	rs776125003	0.0002	0.0058	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0050	0.0060	0.0006	0	5.986e-05	7.346e-05	0	5.828e-05	0.0007	9.971e-05	0.0042	0.0096	0.0042	0.0041	0.0106	0.0039	0.0037	0.0097	0.0093	0.0106	0.0029	0.0025	0.0011	0.0033	0.0012	0.0042	0.0013	0.0033	0.0017	0.106	0.29688	T	0.43	0.13713	T	0.187	0.29285	B	0.017	0.18140	B	0.420246	0.04643	N	1.449630	1	0.08975	N	-0.65	0.02095	N	-2.39	0.88377	D	-2.13	0.49846	N	0.157	0.20262	-0.7445	0.58221	T	0.294	0.66593	T	10	0.013931662	0.00294	T	0.247432	0.88969	D	0.345	0.66676	.	.	0.124217242631	0.12060	0.16895153375309466	0.16815	1.63024933842	0.89211	0.254318475723	0.04237	T	0.395	0.75370	T	-0.382626	0.02999	T	-0.308767	0.43792	T	0.00735191713062015	0.00084	T	0.0922908	0.00682	T	0.25843433	0.48892	0.19273455	0.42804	0.25843433	0.48892	0.19273455	0.42803	-4.464	0.30414	T	.	.	0.135	0.33891	B	.;.;.	.;.;.	-0.227458	0.02955	0.436	0.94377698932161469	0.24747	0.00884	0.03485	N	AEFGI	0.043783	0.06965	N	-1.58358113437021	0.01349	0.05875584	-1.6379110734746	0.01440	0.06511009	1.33674500257934E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.9	-3.87	0.03939	-3.324000	0.00567	-20.000000	0.00162	-1.167000	0.01404	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3656:0.2703:0.2267:0.1375	1.081	0.01541	906	0.23090	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	38.17	26	chr16	1241546	.	G	A	38.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.362;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0573;MLEAC=1;MLEAF=0.029;MQ=29.8;MQRankSum=-3.439;QD=0.89;ReadPosRankSum=-2.573;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	16	0	1	2
chr16	1348185	1348185	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon32:c.C3131T:p.A1044V,BAIAP3:NM_001199097:exon33:c.C3239T:p.A1080V,BAIAP3:NM_001199098:exon33:c.C3170T:p.A1057V,BAIAP3:NM_001199099:exon33:c.C3155T:p.A1052V,BAIAP3:NM_001286464:exon33:c.C3290T:p.A1097V,BAIAP3:NM_003933:exon33:c.C3344T:p.A1115V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2320285	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.385	0.293228672508	.	.	7.215e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs780724620	3.363e-05	3.352e-05	1.776e-05	4.965e-05	0.0005	2.574e-05	2.319e-05	0.0004	0.0003	0	0	0	0	0	0	3.598e-06	6.634e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.0099999999999999	0.07948	N	-0.22	0.66474	T	-2.99	0.62151	D	0.736	0.74553	-0.7305	0.58938	T	0.275	0.64691	T	10	0.8035128	0.79721	D	0.293229	0.90635	D	0.385	0.70194	0.455	0.51938	0.795548414729	0.79365	0.5779761828857274	0.57726	0.447151747283	0.44580	0.844939053059	0.88848	D	0.268482	0.64061	T	-0.225686	0.17223	T	-0.239992	0.50800	T	0.485520479313813	0.32099	T	0.927007	0.75196	D	0.3165641	0.54348	0.22018312	0.46784	0.3165641	0.54348	0.22018312	0.46783	-10.277	0.75554	D	.	.	0.277	0.58120	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.070843	0.41274	21.3	0.99917554142683929	0.98518	0.90617	0.51942	D	AEFBCI	0.742812	0.68632	D	0.106314965926313	0.46757	2.911231	0.0860114157509436	0.43843	2.677805	0.999999559145715	0.74766	0.646311	0.45356	0	0.379588	0.06130	0	0.645312	0.48771	0	0.727631	0.95156	0	.	.	4.65	4.65	0.57626	1.010000	0.29500	4.902000	0.45868	0.599000	0.40250	0.307000	0.25387	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	15.005	0.71162	862	0.33134	.;.;.;.;C2 domain|C2 domain|C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	82	chr16	1348185	.	C	T	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=976;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.433;SOR=1.017	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	0	1	0
chr16	1348409	1348409	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon33:c.G3278A:p.R1093H,BAIAP3:NM_001199097:exon34:c.G3386A:p.R1129H,BAIAP3:NM_001199098:exon34:c.G3317A:p.R1106H,BAIAP3:NM_001199099:exon34:c.G3302A:p.R1101H,BAIAP3:NM_001286464:exon34:c.G3437A:p.R1146H,BAIAP3:NM_003933:exon34:c.G3491A:p.R1164H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.428704596406	0.0004	.	0.0004	0.0004	9.369e-05	0.0002	0	0.0005	0.0013	6.472e-05	0.000304	47	154602	rs144447704	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0	0.0001	0	7.562e-05	0.0001	0	0.0003	0.0002	9.281e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0	0.0003	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-2.89	0.92007	D	-4.41	0.77391	D	0.775	0.82057	0.961	0.96555	D	0.874	0.95823	D	10	0.9377992	0.93107	D	0.428705	0.93938	D	0.733	0.90677	.	.	0.947073457736	0.94651	0.6884252086717967	0.68782	0.518477807778	0.49701	0.55025935173	0.45895	T	0.517104	0.83042	D	0.0543758	0.58904	T	0.172395	0.81551	D	0.6204833984375	0.37226	D	0.927907	0.73422	D	0.64814305	0.75264	0.43839455	0.67227	0.64814305	0.75266	0.43839455	0.67227	-9.073	0.68165	D	.	.	0.148	0.37783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.818871	0.78469	26.9	0.99902417480222672	0.97426	0.84474	0.43556	D	AEFBCI	0.702577	0.65890	D	0.620675657773082	0.74485	6.14052	0.506389110295016	0.68420	5.217454	0.999999999985286	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	2.483000	0.44891	8.515000	0.77403	0.676000	0.76740	0.885000	0.31090	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	14.977	0.70934	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	135	chr16	1348409	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=855;ExcessHet=0;FS=2.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.677;SOR=0.815	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	18	0	1	0
chr16	1366354	1366354	C	T	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001370526:exon6:c.G583A:p.G195R	.	403	1109	9	1	0	11	0.00493495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0357428	0.0211	0.0014	0.0024	0.1962	0.0174	0.0050	0.0216	0.0053	0.0132728	2052	154602	rs75956141	0.0076	0.0076	0.0076	0.0075	0.1656	0.0075	0.0074	0.1622	0.1608	0.0005	0.0015	0.0082	0.1656	0.0110	0.0016	0.0022	0.0128	0.0052	0.0088	0.0088	0.0080	0.0096	0.1566	0.0084	0.0082	0.1477	0.1441	0.0014	0	0.0020	0.0104	0.1566	0.0092	0	0.0036	0.0085	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004573	0.000000	0.001359	0.000000	0.000000	0.000000	0.015625	0.003817	0.02632	1260.33	33	chr16	1366354	.	C	T	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.657;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.408;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr16	1367824	1367824	A	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001193389:exon4:c.T117G:p.F39L,UNKL:NM_001276414:exon4:c.T108G:p.F36L,UNKL:NM_001367622:exon4:c.T117G:p.F39L,UNKL:NM_001370526:exon4:c.T117G:p.F39L,UNKL:NM_001193388:exon13:c.T1620G:p.F540L,UNKL:NM_001372107:exon13:c.T1620G:p.F540L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.164488103893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.91255	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.998769	0.45406	D	.	.	.	-0.23	0.66652	T	-4.07	0.89534	D	0.501	0.53620	-0.2873	0.75340	T	0.425	0.76910	T	9	0.35302576	0.52118	T	0.164488	0.84358	D	0.310	0.63162	0.232	0.16005	0.250579442822	0.24687	.	.	0.35949799997	0.37640	0.855580925941	0.90454	D	0.172725	0.52133	T	0.073117	0.61225	D	-0.132749	0.60741	T	0.987381994724274	0.77891	D	0.953605	0.85587	D	.	.	.	.	.	.	.	.	-7.296	0.56167	T	.	.	0.973	0.92114	P	.;.;.;.;.;.	.;.;.;.;.;.	3.141921	0.42498	21.5	0.99725509566138715	0.82336	0.68956	0.33999	D	AEFDBHCI	0.364989	0.45333	N	0.147240433242267	0.48681	3.07745	-0.00505165804969017	0.39487	2.341984	0.996710019658257	0.34950	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.96	-2.49	0.06034	0.880000	0.27798	-0.165000	0.11284	0.754000	0.88378	1.000000	0.71638	0.005000	0.19230	0.999000	0.91618	0.4987:0.0:0.5013:0.0	10.331	0.43003	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1016.33	38	chr16	1367824	.	A	C	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=766;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.219;SOR=0.936	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1199	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:89,0:89:0:.:.:0,0,0:.	4	5	5	5
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36,UNKL:NM_001372107:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	667.98	41	chr16	1397281	.	G	GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	667.98	.	AC=2;AF=0.059;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=2;MLEAF=0.059;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,105,1575:.	15	0	2	2
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,105,1575:.	9	5	3	2
chr16	1399389	1399389	C	T	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001037125:exon5:c.G719A:p.R240Q,UNKL:NM_001193388:exon5:c.G719A:p.R240Q,UNKL:NM_001372107:exon5:c.G719A:p.R240Q	.	420	1094	7	1	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0016	0.00379393	0.0050	0.0009	0.0011	0.0005	0.0004	0.0022	0	0.0237	0.0031565	488	154602	rs141777582	0.0028	0.0029	0.0024	0.0033	0.0177	0.0028	0.0027	0.0170	0.0167	0.0003	0.0009	0	0.0002	0.0001	0.0049	0.0021	0.0027	0.0177	0.0020	0.0020	0.0016	0.0023	0.0176	0.0018	0.0017	0.0146	0.0135	0.0006	0	0.0026	0	0.0004	9.413e-05	0.0102	0.0021	0.0014	0.0176	0.005	0.63226	D	0.052	0.48855	T	0.997	0.70673	D	0.742	0.55764	P	0.000000	0.84330	D	0.000000	0.999971	0.58761	D	2.845	0.82663	M	-0.23	0.66652	T	-2.87	0.60665	D	0.747	0.74644	-0.2033	0.77585	T	0.421	0.76643	T	10	0.0087712705	0.00199	T	.	.	.	0.317	0.63904	.	.	0.436025050644	0.43221	0.6277779447133178	0.62710	0.0912365526607	0.10305	0.623870193958	0.56276	T	0.20087	0.55858	T	-0.263256	0.12522	T	-0.136646	0.60408	T	0.0312224929181586	0.02181	T	0.985781	0.95172	D	.	.	.	.	.	.	.	.	-5.093	0.37834	T	.	.	0.083	0.17488	B	.;.;.	.;.;.	4.801165	0.78012	26.8	0.99929603435023084	0.99279	0.97190	0.73220	D	AEFDBCI	0.809871	0.73326	D	0.411816280544136	0.62070	4.417149	0.279211665152239	0.54327	3.598034	0.999999991742954	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.22	4.22	0.49153	7.507000	0.80548	5.640000	0.49146	0.599000	0.40250	0.995000	0.38783	0.721000	0.26353	0.154000	0.20445	0.0:1.0:0.0:0.0	14.451	0.66961	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004569	0.000000	0.002725	0.005848	0.000000	0.000000	0.003086	0.011450	0.05263	1245.83	34	chr16	1399389	.	C	T	1245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.25;DP=674;ExcessHet=0.119;FS=5.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.975;SOR=0.314	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	17	0	2	0
chr16	1432702	1432710	GAGGAGGAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.109_117del:p.E45_E47del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs879106059	0.0039	0.0027	0.0038	0.0040	0.0176	0.0037	0.0036	0.0162	0.0156	0.0007	0.0024	0.0014	0.0176	0.0135	0.0015	0.0009	0.0030	0.0162	0.0030	0.0030	0.0022	0.0039	0.0186	0.0028	0.0027	0.0156	0.0144	0.0005	0	0.0019	0.0023	0.0186	0.0145	0	0.0011	0.0019	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3582.08	5	chr16	1432701	.	AGAGGAGGAG	A	3582.08	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=274;ExcessHet=0.6984;FS=2.465;InbreedingCoeff=0.0822;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.14;ReadPosRankSum=0;SOR=0.963	GT:AD:DP:GQ:PL	0/0:4,0:10:99:235,247,411	18	0	1	0
chr16	1460420	1460420	C	G	exonic	CLCN7	.	nonsynonymous SNV	CLCN7:NM_001114331:exon5:c.G520C:p.E174Q,CLCN7:NM_001287:exon6:c.G592C:p.E198Q	Osteopetrosis, autosomal dominant 2, Autosomal dominant;Osteopetrosis, autosomal recessive 4	0	1520	2	0	0	2	0.000657462	0.8231	0.726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.176008223092	.	.	8.298e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs374764558	6.85e-07	6.84e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.48642	D	0.103	0.40267	T	0.984	0.60733	D	0.773	0.56974	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.385	0.68708	M	-1.59	0.82076	D	-1.53	0.41239	N	0.828	0.82358	0.291	0.87409	D	0.611	0.86237	D	10	0.79356027	0.78870	D	0.176008	0.85191	D	0.668	0.87674	0.692	0.82938	0.755794672329	0.75358	0.8644127495211604	0.86405	0.722380118877	0.62274	0.698100566864	0.66870	T	0.760037	0.93492	D	0.220236	0.75798	D	0.0785773	0.75482	D	0.74440860748291	0.42976	D	0.888211	0.67374	D	0.71007276	0.78611	0.31559247	0.57544	0.71007276	0.78612	0.31559247	0.57543	-11.56	0.82642	D	.	.	0.386	0.70048	A	.;.;.;.	.;.;.;.	5.176064	0.86775	29.0	0.99741678126644095	0.83555	0.99545	0.97286	D	AEFBI	0.955829	0.97395	D	0.44222057848535	0.63762	4.616407	0.43308342616697	0.63637	4.601586	0.999999993800138	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	7.474000	0.80024	7.505000	0.59540	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.513000	0.29313	0.0:1.0:0.0:0.0	16.424	0.83648	784	0.47045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	728.33	37	chr16	1460420	.	C	G	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.166;DP=718;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.182;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	1494523	1494523	G	T	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon2:c.G242T:p.G81V,TELO2:NM_016111:exon2:c.G242T:p.G81V	You-Hoover-Fong syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.108459605806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.062	0.45318	T	0.807	0.45251	P	0.213	0.37437	B	0.012385	0.29191	N	0.321128	0.676703	0.30315	N	2.52	0.73523	M	-1.91	0.84701	D	-2.45	0.53577	N	0.424	0.46368	-0.5049	0.68472	T	0.382	0.73855	T	10	0.29132304	0.46712	T	0.10846	0.78499	D	0.271	0.58633	0.307	0.27806	0.571414409706	0.56808	0.31081622766582645	0.30994	0.200104210969	0.22413	0.378383845091	0.22027	T	0.13792	0.47113	T	0.0189153	0.54236	T	-0.210606	0.53637	T	0.648584365844727	0.38402	D	0.784022	0.42156	T	0.074886374	0.16836	0.1036579	0.24875	0.074886374	0.16835	0.1036579	0.24875	-4.96	0.36403	T	0.4938225141855319	0.57022	0.305	0.53394	B	.	.	1.887878	0.23980	16.22	0.988611647973069	0.47476	0.29503	0.23839	N	ALL	0.227001	0.35087	N	-0.511869855922571	0.21696	1.153272	-0.626212833778455	0.18820	1.007096	0.999999999002916	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.548927	0.17530	0	.	.	4.69	1.31	0.20837	0.237000	0.17763	3.579000	0.39150	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.204000	0.22012	0.2:0.3566:0.4434:0.0	4.627	0.11868	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1047.33	37	chr16	1494523	.	G	T	1047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=782;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.069;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	1495414	1495414	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T404C:p.V135A,TELO2:NM_016111:exon3:c.T404C:p.V135A	You-Hoover-Fong syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3842243	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0394414839464	.	.	0.0003	0	0	0	0	0.0001	0	0.0008	7.12e-05	11	154602	rs762648784	2.915e-05	3.01e-05	1.516e-05	4.332e-05	0.0005	2.183e-05	1.935e-05	0.0003	0.0003	0	0	0	0	0	0	9.068e-07	3.362e-05	0.0005	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.252	0.17014	T	0.288	0.21144	T	0.0	0.02946	B	0.001	0.04355	B	0.035340	0.24657	N	0.402364	1	0.08975	N	-1.63	0.00401	N	-1.64	0.82533	D	0.78	0.01921	N	0.041	0.01421	-0.8472	0.52161	T	0.123	0.42462	T	10	0.013909608	0.00294	T	0.039441	0.58808	D	0.086	0.25016	0.381	0.39807	0.146414634003	0.14194	0.12237286877060714	0.12164	0.143293746968	0.16171	0.293380588293	0.09417	T	0.020745	0.16281	T	-0.492574	0.00629	T	-0.574239	0.15062	T	0.0345896322740666	0.02739	T	0.426357	0.11459	T	0.024242496	0.01236	0.031121107	0.01657	0.024242496	0.01236	0.031121107	0.01657	-1.947	0.02987	T	0.05715998029730394	0.01372	0.062	0.01309	B	.	.	-0.182745	0.03181	0.521	0.51259119204139081	0.04530	0.02238	0.06495	N	AEFDBCI	0.031574	0.03406	N	-1.54783872246797	0.01547	0.06758215	-1.46058290461467	0.02676	0.1235025	0.999920114670987	0.46280	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.33	-0.878	0.10079	0.100000	0.15067	0.717000	0.20982	-0.201000	0.08892	0.006000	0.17386	0.151000	0.23179	0.005000	0.06747	0.1797:0.5202:0.0:0.3001	6.019	0.18847	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	713.33	34	chr16	1495414	.	T	C	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=708;ExcessHet=0;FS=1.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.09;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	18	0	1	0
chr16	1506292	1506292	G	A	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon17:c.G2089A:p.G697S,TELO2:NM_016111:exon17:c.G2089A:p.G697S	You-Hoover-Fong syndrome, Autosomal recessive	417	1103	2	0	0	2	0.000905797	.	.	.	2122667	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0472564183463	7.7e-05	.	8.274e-05	0.0002	8.645e-05	0	0	9.053e-05	0	6.057e-05	6.47e-05	10	154602	rs145891685	7.389e-05	7.388e-05	7.079e-05	7.701e-05	0.0024	6.249e-05	5.808e-05	0.0015	0.0012	0.0003	0	0	0	0	0.0024	6.835e-05	6.624e-05	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	2.43	0.15261	T	-4.99	0.82221	D	0.814	0.80964	-1.0817	0.07022	T	0.096	0.36029	T	10	0.8406963	0.83226	D	0.047256	0.62838	D	0.365	0.68495	.	.	0.548737595723	0.54530	0.6725922234472629	0.67197	0.554039843367	0.52157	0.652264595032	0.60307	T	0.481716	0.81017	T	-0.141031	0.29726	T	-0.160922	0.58268	T	0.826481819152832	0.48260	D	0.932007	0.74652	D	0.54194623	0.69505	0.42410132	0.66260	0.54194623	0.69506	0.42410132	0.66260	-8.044	0.61370	D	0.6128893999490087	0.68062	0.243	0.47687	B	.	.	4.808027	0.78192	26.8	0.99779604269303424	0.86693	0.94760	0.62235	D	AEFDBCI	0.893309	0.83113	D	0.337714071578186	0.58094	3.97981	0.218711189940786	0.50885	3.276067	0.99989822767899	0.45129	0.706548	0.73137	0	0.643519	0.57511	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	8.077000	0.89310	11.578000	0.93324	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0:0.0:1.0:0.0	15.586	0.76229	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1516.33	34	chr16	1506292	.	G	A	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.067;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-2.55;SOR=0.649	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1288	18	0	1	0
chr16	1523612	1523612	G	A	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon26:c.C3359T:p.T1120M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1453037	Saldino-Mainzer_syndrome	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0330131640667	.	.	8.314e-06	0	8.676e-05	0	0	0	0	0	6.5e-06	1	154602	rs756215215	9.578e-06	9.577e-06	8.169e-06	1.1e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	5.396e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.066	0.45318	T	0.966	0.56202	D	0.443	0.45803	B	0.160447	0.17680	N	0.607393	0.994593	0.23485	N	0.55	0.14455	N	0.95	0.43279	T	-1.71	0.42957	N	0.24	0.27077	-1.0567	0.12595	T	0.098	0.36728	T	10	0.16076666	0.30173	T	0.033013	0.54684	D	0.107	0.30369	0.368	0.37687	0.418344901717	0.41449	0.1905756107873801	0.18975	0.213286092431	0.23841	0.287868052721	0.08612	T	0.024438	0.18465	T	-0.37032	0.03577	T	-0.593868	0.13333	T	0.26253415881797	0.23425	T	0.922808	0.73493	D	0.032817412	0.03380	0.0663674	0.13585	0.032817412	0.03380	0.0663674	0.13585	-7.055	0.54435	T	0.2897305465120458	0.38613	0.073	0.05800	B	.;.	.;.	2.198644	0.28042	17.66	0.99593377259018501	0.73748	0.75471	0.36953	D	AEFBI	0.245048	0.36605	N	-0.196892730875819	0.33263	1.885165	-0.193111643549158	0.31788	1.802312	0.684725452008437	0.22520	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.67	3.39	0.37919	0.971000	0.28993	0.940000	0.22845	-0.140000	0.12423	0.865000	0.30702	0.991000	0.31484	0.321000	0.24994	0.0:0.0748:0.1429:0.7823	7.922	0.29015	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	591.33	33	chr16	1523612	.	G	A	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.644;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	18	0	1	0
chr16	1602417	1602417	C	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon4:c.G322A:p.V108M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1492	29	1	0	31	0.0102819	.	.	.	465701	not_provided|Saldino-Mainzer_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0072	0.00279553	0.0069	0.0015	0.0018	0.0001	0.0145	0.0093	0.01	0.0049	0.0069081	1068	154602	rs146128830	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0013	0.0017	0.0049	2.519e-05	0.0136	0.0040	0.0107	0.0082	0.0056	0.0069	0.0069	0.0066	0.0072	0.0111	0.0066	0.0064	0.0104	0.0102	0.0018	0.0033	0.0023	0.0049	0.0002	0.0123	0.0136	0.0111	0.0028	0.0056	0.022	0.53172	D	0.044	0.49663	D	0.985	0.61118	D	0.79	0.57710	P	0.062786	0.22072	N	0.456706	0.993577	0.23687	N	2.47	0.71715	M	0.2	0.60111	T	-0.71	0.24898	N	0.537	0.56489	-0.7691	0.56907	T	0.201	0.55737	T	10	0.015878737	0.00333	T	.	.	.	0.240	0.54500	.	.	0.585930602222	0.58267	0.22987807429048945	0.22902	0.335070030475	0.35518	0.282918542624	0.07903	T	0.020676	0.21710	T	-0.409037	0.02017	T	-0.348006	0.39433	T	0.0188908663489933	0.00599	T	0.862614	0.55818	D	0.030687803	0.02774	0.041938186	0.04881	0.026921747	0.01812	0.040142946	0.04269	-7.027	0.54231	T	0.34450922003466256	0.44207	0.119	0.35098	B	.;.;.	.;.;.	1.786767	0.22713	15.73	0.99512493023377735	0.68739	0.04505	0.10128	N	AEFDBI	0.049178	0.08470	N	-0.392399946430757	0.25738	1.399483	-0.661203259983345	0.17934	0.9558399	0.369238672997573	0.19853	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.83	-1.19	0.09091	0.022000	0.13402	-0.003000	0.13174	0.599000	0.40250	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.0:0.4051:0.0:0.5949	9.800	0.39929	568	0.70638	WD40-repeat-containing domain;Anaphase-promoting complex subunit 4, WD40 domain;Anaphase-promoting complex subunit 4, WD40 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002725	0.000000	0.000000	0.025862	0.006098	0.000000	0.02632	1574.33	35	chr16	1602417	.	C	T	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.594;DP=769;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.808;SOR=0.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	18	0	1	0
chr16	1625985	1625985	G	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon3:c.G359T:p.G120V	.	414	1062	45	1	0	47	0.021649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0022	0.00439297	0.0087	0.0009	0.0122	0	0	0.0054	0.0053	0.0151	0.0015977	247	154602	rs150953427	0.0027	0.0026	0.0022	0.0031	0.0200	0.0026	0.0026	0.0170	0.0159	0.0013	0.0026	0.0125	5.597e-05	2.031e-05	0.0200	0.0015	0.0050	0.0159	0.0020	0.0020	0.0018	0.0021	0.0166	0.0018	0.0017	0.0137	0.0126	0.0003	0	0.0022	0.0121	0	0	0.0068	0.0018	0.0047	0.0166	0.003	0.68238	D	0.006	0.70582	D	0.047	0.21998	B	0.039	0.23607	B	0.714790	0.06279	U	1.293900	0.516498	0.54805	D	1.845	0.48678	L	1.6	0.28604	T	-1.81	0.42575	N	0.234	0.26596	-1.1190	0.02395	T	0.047	0.20116	T	10	0.0060564578	0.00136	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.36344445300390743	0.36258	2.073624099	0.94498	0.61243647337	0.54661	T	0.290878	0.66365	T	-0.464481	0.00921	T	-0.427647	0.30203	T	0.051960638129214	0.05841	T	0.880312	0.59828	D	0.11622287	0.27416	0.13331488	0.31970	0.11622287	0.27416	0.13331488	0.31969	-5.155	0.38481	T	.	.	0.086	0.11172	B	.;.	.;.	3.568289	0.50241	22.9	0.99028105396021637	0.50742	0.91850	0.54398	D	AEFDBI	0.208233	0.33433	N	-0.513885814024058	0.21630	1.149333	-0.402537516771408	0.24923	1.367544	0.951471058068634	0.27959	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	5.99	4.03	0.46115	4.409000	0.59524	7.437000	0.58841	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0697:0.0:0.7915:0.1389	9.831	0.40107	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029213	0.021978	0.054217	0.039130	0.000000	0.000000	0.000000	0.041667	0.07895	3209.79	34	chr16	1625985	.	G	T	3209.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=840;ExcessHet=0.3672;FS=3.269;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.395;SOR=0.885	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	3	0
chr16	1656903	1656903	C	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon10:c.C2146T:p.R716C	.	390	1128	4	0	0	4	0.00176991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00475746446204	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs771069939	2e-05	2.189e-05	1.551e-05	2.462e-05	0.0005	1.387e-05	1.194e-05	0.0001	7.689e-05	0	2.786e-05	0	0	0	0.0005	1.296e-05	6.895e-05	7.568e-05	4.599e-05	4.596e-05	3.853e-05	5.381e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.125e-05	2.411e-05	0	6.54e-05	0	0	0	0	5.882e-05	0	0.0002	0.133	0.26409	T	0.091	0.40110	T	0.004	0.12183	B	0.002	0.06944	B	0.063348	0.02165	N	1.771920	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.2	0.30555	N	0.114	0.10198	-1.0264	0.21625	T	0.041	0.17657	T	9	0.04719329	0.04005	T	0.004757	0.11879	T	0.009	0.00846	0.288	0.24761	0.043077524339	0.03247	0.1251858504383582	0.12444	0.357716215195	0.37485	0.393870055676	0.24214	T	0.265249	0.63710	T	-0.373461	0.03422	T	-0.646449	0.09204	T	0.0201087277382612	0.00712	T	0.579642	0.20943	T	0.061074544	0.12605	0.027737722	0.00950	0.061074544	0.12605	0.027737722	0.00950	-4.401	0.29571	T	.	.	0.080	0.07985	B	.;.	.;.	0.780944	0.11512	8.110	0.87459917710030854	0.17243	0.12990	0.17599	N	AEFBCI	0.046758	0.07800	N	-1.32930453106373	0.03344	0.1492291	-1.34836698660823	0.03825	0.1792212	0.0399281347380018	0.14416	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	3.48	-0.889	0.10044	0.041000	0.13813	-3.517000	0.02727	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4059:0.2791:0.0:0.315	3.213	0.06292	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	984.33	34	chr16	1656903	.	C	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.332;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	18	0	1	0
chr16	1772939	1772939	C	G	exonic	MRPS34	.	nonsynonymous SNV	MRPS34:NM_001300900:exon1:c.G181C:p.E61Q,MRPS34:NM_023936:exon1:c.G181C:p.E61Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.91000417737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.731e-07	6.844e-07	0	1.582e-06	9.644e-07	0	0	.	.	0	0	0	0	0	0	9.644e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.57	0.54347	T	-1.07	0.27876	N	0.519	0.56833	-0.5323	0.67454	T	0.301	0.67186	T	10	0.7900201	0.78579	D	0.910004	0.99328	D	0.303	0.62400	0.691	0.82843	0.315903272564	0.31202	0.6358626023129333	0.63520	2.72839044085	0.98652	0.859533429146	0.91042	D	0.03947	0.55282	T	0.00742358	0.52672	T	-0.227113	0.52051	T	0.983786880970001	0.75324	D	0.876112	0.58827	D	0.3125561	0.54006	0.14441471	0.34287	0.3125561	0.54006	0.14441471	0.34286	-3.681	0.19038	T	0.6225373308768358	0.69106	0.701	0.72983	P	.;.	.;.	4.824903	0.78622	26.9	0.99741510877214623	0.83555	0.94408	0.61070	D	ALL	0.871116	0.79236	D	0.61829938487189	0.74331	6.114764	0.569260482027236	0.72746	5.858928	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.24	4.24	0.49486	3.317000	0.51678	7.237000	0.57889	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.228	0.73059	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1697.33	34	chr16	1772939	.	C	G	1697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.124;DP=789;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.508;SOR=0.942	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1400	18	0	1	0
chr16	1788168	1788168	G	A	exonic	NUBP2	.	nonsynonymous SNV	NUBP2:NM_001284502:exon5:c.G185A:p.R62Q,NUBP2:NM_012225:exon6:c.G631A:p.G211R,NUBP2:NM_001284501:exon7:c.G451A:p.G151R	.	.	.	.	.	.	.	.	.	.	.	797269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.223429128964	.	.	2.712e-05	0	0	0	0	4.633e-05	0	0	1.29e-05	2	154602	rs773854014	2.242e-05	2.805e-05	2.428e-05	2.052e-05	0.0002	1.607e-05	1.4e-05	1.422e-05	1.188e-05	0	0	4.511e-05	2.656e-05	0	0.0002	2.136e-05	3.514e-05	3.971e-05	1.314e-05	1.313e-05	2.569e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.014	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	0.98	0.42122	T	-7.33	0.94566	D	0.846	0.86404	0.243	0.86630	D	0.422	0.76684	T	10	0.87956935	0.87262	D	0.223429	0.87901	D	0.493	0.77910	0.673	0.81101	0.662238901992	0.65940	0.9468772292722727	0.94670	0.590403708123	0.54503	0.734736442566	0.72199	T	0.288249	0.66104	T	0.23456	0.77150	D	0.0991534	0.76852	D	0.911212624992719	0.56671	D	0.987151	0.96210	D	0.95923316	0.97202	0.92362213	0.96652	0.95923316	0.97203	0.92362213	0.96652	-14.644	0.94962	D	.	.	0.931	0.85099	P	.;.;.	.;.;.	5.856721	0.93840	33	0.99911617300480282	0.98095	0.92417	0.55664	D	AEFBCI	0.764136	0.70102	D	0.826976718980019	0.87763	9.331375	0.659743900168597	0.79339	7.061359	0.999999999994765	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.38	4.38	0.52019	6.923000	0.75636	8.517000	0.77410	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	15.864	0.78824	565	0.70868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003043	0.005155	0.005464	0.003012	0.000000	0.000000	0.000000	0.003817	0.02632	1278.33	33	chr16	1788168	.	G	A	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=760;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.452;SOR=0.39	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr16	1791501	1791501	C	T	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.G1031A:p.R344Q,IGFALS:NM_004970:exon2:c.G917A:p.R306Q	Acid-labile subunit, deficiency of	416	1104	1	1	0	3	0.00135685	.	.	.	334110	Short_stature_due_to_primary_acid-labile_subunit_deficiency	MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0441767801366	.	0.000399361	0.0002	0	0	0.0013	0	9.407e-05	0	7.83e-05	0.0001164	18	154602	rs201176815	8.931e-05	8.961e-05	0.0001	7.598e-05	0.0011	7.654e-05	7.198e-05	0.0008	0.0007	0	0	0	0.0011	5.84e-05	0	6.577e-05	6.654e-05	8.18e-05	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0017	4.952e-05	3.959e-05	0.0009	0.0007	0	0	0	0	0.0017	0.0002	0	2.94e-05	0	0	0.069	0.35537	T	0.569	0.12812	T	1.0	0.90584	D	0.957	0.69900	D	0.000010	0.62929	N	0.105674	0.953414	0.37829	D	0.135	0.08676	N	1.86	0.24285	T	-0.87	0.23590	N	0.713	0.71765	-1.0922	0.05175	T	0.071	0.28969	T	10	0.2152634	0.38073	T	0.044177	0.61358	D	0.216	0.50959	0.484	0.56621	0.796489376442	0.79459	0.5975374553546505	0.59684	0.337979582532	0.35776	0.605527937412	0.53685	T	0.075455	0.35183	T	-0.385266	0.02885	T	-0.366718	0.37273	T	0.122185311014252	0.14641	T	0.776522	0.40874	T	0.15743782	0.35475	0.1173554	0.28330	0.15743782	0.35475	0.1173554	0.28329	-4.056	0.24639	T	0.6546494455396146	0.72728	0.097	0.17785	B	.;.	.;.	4.500885	0.70397	25.5	0.99936802244354273	0.99661	0.93604	0.58673	D	AEFDBCI	0.802079	0.72760	D	0.294654999010762	0.55878	3.751872	0.345329769196706	0.58226	3.992006	0.999996793306891	0.74766	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.37	4.42	0.52775	5.662000	0.67701	2.200000	0.31279	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.989000	0.64315	0.0:0.9197:0.0:0.0803	12.791	0.56914	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	939.33	34	chr16	1791501	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=990;ExcessHet=0;FS=11.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.069;SOR=1.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	18	0	1	0
chr16	1791558	1791558	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C974T:p.P325L,IGFALS:NM_004970:exon2:c.C860T:p.P287L	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	703533	not_provided|not_specified|Short_stature_due_to_primary_acid-labile_subunit_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.084	0.0164065016574	0.0042	0.00279553	0.0051	0.0010	0.0062	0	0.0039	0.0089	0.0036	0.0004	0.0027361	423	154602	rs35706152	0.0059	0.0058	0.0060	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0011	0.0041	3.931e-05	2.718e-05	0.0037	0.0002	0.0070	0.0049	0.0004	0.0042	0.0042	0.0046	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0014	0	0.0046	0.0003	0	0.0031	0	0.0069	0.0043	0.0002	1.0	0.00964	T	0.653	0.06666	T	0.002	0.09854	B	0.008	0.13708	B	0.019837	0.27171	N	0.397979	0.995039	0.42516	D	-0.54	0.02511	N	1.92	0.23082	T	-0.27	0.11366	N	0.091	0.09349	-1.0069	0.27881	T	0.016	0.06521	T	10	0.009347528	0.00211	T	0.016407	0.37653	T	0.084	0.24469	.	.	0.628632071366	0.62559	0.24642960455124976	0.24556	0.0512782227325	0.05640	0.522785902023	0.42019	T	0.098532	0.40245	T	-0.557915	0.00261	T	-0.570178	0.15432	T	0.0128491033734068	0.00220	T	0.313569	0.06164	T	0.03951768	0.05473	0.050750796	0.08028	0.04320258	0.06692	0.051252533	0.08210	-3.021	0.11205	T	0.07250072454410691	0.02978	0.107	0.28057	B	.;.	.;.	2.720952	0.35591	19.94	0.69369190534290037	0.08950	0.67679	0.33520	D	AEFDBCI	0.314188	0.41912	N	-0.340715452556209	0.27615	1.516518	-0.117040289881953	0.34702	1.999207	0.999989408807702	0.51787	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.26	4.21	0.48984	4.374000	0.59312	8.397000	0.77098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	0.3111:0.0:0.6889:0.0	4.142	0.09665	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003064	0.000000	0.002762	0.002959	0.000000	0.000000	0.000000	0.003788	0.02632	1008.33	34	chr16	1791558	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1001;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.48;SOR=0.601	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	18	0	1	0
chr16	1809341	1809341	A	G	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_005326:exon9:c.T869C:p.V290A,HAGH:NM_001040427:exon10:c.T725C:p.V242A	.	12	1452	54	4	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0014	0.00599042	0.0047	9.653e-05	0.0013	0	0	0.0028	0.0066	0.0216	0.0041785	646	154602	rs151314474	0.0026	0.0026	0.0019	0.0033	0.0199	0.0025	0.0025	0.0191	0.0188	0.0003	0.0018	0.0121	2.519e-05	3.777e-05	0.0135	0.0012	0.0039	0.0199	0.0022	0.0022	0.0019	0.0026	0.0230	0.0021	0.0020	0.0195	0.0182	0.0003	0	0.0021	0.0098	0	0	0.0034	0.0020	0.0066	0.0230	0.325	0.25873	T	0.269	0.26226	T	0.271	0.31796	B	0.118	0.32088	B	0.179333	0.17147	N	0.556675	0.99999	0.81001	D	1.365	0.34158	L	-3.73	0.95458	D	-3.88	0.72710	D	0.234	0.53181	0.322	0.87901	D	0.690	0.89309	D	10	0.006383598	0.00144	T	.	.	.	0.568	0.82403	.	.	0.853297744544	0.85188	0.6005269816842213	0.59983	0.256767550364	0.28246	0.555836677551	0.46680	T	0.343914	0.71250	T	-0.0816589	0.39443	T	0.126846	0.78686	D	0.0902594041854258	0.11249	T	0.926607	0.72946	D	0.1953377	0.41318	0.30353233	0.56384	0.1953377	0.41318	0.30353233	0.56383	-9.225	0.69134	D	.	.	0.234	0.47382	B	.;.;.	.;.;.	4.108763	0.61322	24.3	0.9770966708406994	0.35489	0.95170	0.63696	D	AEFDBHCI	0.892467	0.82943	D	-0.0176703182364091	0.41055	2.448988	0.0806842467433379	0.43578	2.656657	0.999995011632823	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	8.375000	0.90028	9.197000	0.79161	0.756000	0.94297	0.972000	0.34453	1.000000	0.68203	0.038000	0.14061	1.0:0.0:0.0:0.0	14.132	0.64790	588	0.69043	Hydroxyacylglutathione hydrolase, C-terminal domain;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.008152	0.014620	0.000000	0.025862	0.018293	0.000000	0.02632	1869.33	172	chr16	1809341	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.451;DP=812;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.109;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	18	0	1	0
chr16	1952941	1952941	G	A	exonic	RPL3L	.	nonsynonymous SNV	RPL3L:NM_005061:exon3:c.C298T:p.R100W	.	427	1094	1	0	0	1	0.00045683	.	.	.	3413669	Cardiomyopathy,_dilated,_2D	MONDO:MONDO:0030300,MedGen:C5543535,OMIM:619371	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.138729560457	.	.	2.478e-05	0	0	0.0001	0	3.009e-05	0	0	1.94e-05	3	154602	rs757685943	3.968e-05	3.967e-05	3.948e-05	3.988e-05	0.0003	3.113e-05	2.847e-05	6.094e-05	2.956e-05	5.977e-05	2.236e-05	0	2.52e-05	0	0.0003	4.317e-05	3.312e-05	2.319e-05	2.629e-05	2.627e-05	1.284e-05	4.037e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.42e-05	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.081	0.41742	T	1.0	0.90584	D	0.881	0.62579	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.155	0.88459	M	1.58	0.29085	T	-7.36	0.94647	D	0.726	0.72746	-0.6614	0.62215	T	0.192	0.54521	T	10	0.8814759	0.87459	D	0.13873	0.82122	D	0.463	0.75956	0.785	0.90844	0.831545333466	0.82994	0.7958484076814499	0.79537	0.213320323887	0.23841	0.741887688637	0.73251	T	0.212827	0.57398	T	0.0835964	0.62459	D	0.0514322	0.73678	D	0.838191151618958	0.49180	D	0.930507	0.74278	D	0.8764543	0.89378	0.87239826	0.93031	0.8764543	0.89379	0.87239826	0.93032	-9.687	0.72017	D	.	.	0.220	0.45111	B	.	.	4.125917	0.61706	24.4	0.9989018353231417	0.96436	0.80656	0.40238	D	AEFDBHCIJ	0.866198	0.78555	D	0.529588365523542	0.68849	5.274003	0.433623383836401	0.63671	4.605701	0.994825486213364	0.33818	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.28	3.26	0.36471	4.268000	0.58681	1.336000	0.25703	0.652000	0.53365	1.000000	0.71638	0.876000	0.27648	0.998000	0.85391	0.0:0.0:0.5606:0.4394	13.054	0.58379	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1521.33	35	chr16	1952941	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=769;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.732;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr16	1999630	1999630	G	A	exonic	ZNF598	.	nonsynonymous SNV	ZNF598:NM_178167:exon11:c.C1919T:p.P640L	.	404	1117	1	0	0	1	0.000447427	.	.	.	2810842	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	.	0.0041	0.00179712	0.0072	0.0020	0.0008	0.0001	0.0078	0.0111	0.0050	0.0032	0.0065588	1014	154602	rs144186452	0.0078	0.0078	0.0080	0.0075	0.0093	0.0076	0.0076	0.0091	0.0090	0.0011	0.0014	0.0010	0	0.0066	0.0007	0.0093	0.0052	0.0027	0.0053	0.0053	0.0054	0.0051	0.0088	0.0050	0.0048	0.0082	0.0080	0.0018	0.0044	0.0030	0.0006	0	0.0057	0	0.0088	0.0028	0.0023	0.058	0.37750	T	0.002	0.79402	D	.	.	.	.	.	.	0.543311	0.11513	N	0.795844	1	0.08975	N	.	.	.	2.3	0.16953	T	-1.0	0.26422	N	0.056	0.02964	-0.9976	0.30590	T	0.025	0.10688	T	10	0.0038484335	0.00073	T	.	.	.	.	.	.	.	0.345632371893	0.34166	.	.	.	.	0.425714790821	0.28623	T	0.011173	0.10005	T	-0.597103	0.00152	T	-0.622512	0.10990	T	0.0016969949223261	0.00017	T	0.643236	0.25495	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.;.	.;.	0.249293	0.06286	2.744	0.71317224232775267	0.09588	0.12230	0.17141	N	AEFDBCI	0.050365	0.08796	N	-1.02905456596761	0.08005	0.3738244	-1.09427842171121	0.07812	0.3815009	0.998659578876861	0.37392	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	0.541	0.16359	0.192000	0.16902	0.745000	0.21191	-0.119000	0.14319	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3239:0.0:0.5283:0.1478	4.283	0.10286	789	0.46346	.;.	AC005363.9|AC005363.9|AC005363.9|HAGH|AC005363.9|HAGH|AC005363.9|AC005363.9|AC005363.9|HAGH|AC005363.9|AC005363.9|RPS2|AC005363.9|BRICD5|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|NDUFB10|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|IGFALS|AC005363.9|HAGH|AC005363.9|AC005363.9	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood	NDUFB10|MSRB1	Skin_Sun_Exposed_Lower_leg|Spleen	rs144186452	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.005102	0.002725	0.000000	0.050000	0.008621	0.000000	0.003788	0.02632	847.33	33	chr16	1999630	.	G	A	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=705;ExcessHet=0;FS=3.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-1.225;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1236:.	18	0	1	0
chr16	2020112	2020112	G	A	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.G211A:p.G71R	.	431	1072	17	2	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00539137	0.0081	0.0011	0.0028	0	0	0.0017	0.0041	0.0308	0.0024515	379	154602	rs375002657	0.0015	0.0016	0.0010	0.0020	0.0174	0.0015	0.0015	0.0166	0.0163	0.0001	0.0007	0.0011	2.778e-05	0	0.0062	0.0005	0.0021	0.0174	0.0012	0.0012	0.0009	0.0016	0.0191	0.0011	0.0010	0.0159	0.0148	0.0001	0	0.0031	0.0014	0	9.436e-05	0	0.0005	0.0024	0.0191	0.009	0.57480	D	0.167	0.30729	T	0.998	0.73220	D	0.823	0.59197	P	0.035863	0.24591	N	0.365843	1	0.08975	N	2.19	0.61577	M	0.53	0.55090	T	-3.07	0.63207	D	.	.	-0.9902	0.32551	T	0.135	0.45010	T	10	0.0048917234	0.00104	T	.	.	.	0.053	0.14996	0.381	0.39807	0.62298222662	0.61991	0.15304174746935897	0.15226	.	.	0.702227473259	0.67466	T	0.07337	0.34681	T	-0.456722	0.01030	T	-0.413889	0.31778	T	0.0339217840638893	0.02624	T	0.532447	0.17709	T	0.11730572	0.27657	0.06344589	0.12568	0.11730572	0.27657	0.06344589	0.12568	-4.097	0.25246	T	.	.	0.255	0.48978	B	.;.	.;.	1.890159	0.24007	16.23	0.99001124042822441	0.50148	0.03053	0.07952	N	AEFDBCI	0.037480	0.05162	N	-0.50431967601507	0.21940	1.168028	-0.74379208383424	0.15875	0.837091	0.999999941859873	0.74766	0.65757	0.49021	0	0.627178	0.54094	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	2.88	-0.254	0.12350	-0.061000	0.11650	2.431000	0.32730	-0.294000	0.06260	0.000000	0.06391	0.745000	0.26509	0.006000	0.07323	0.2787:0.2351:0.4862:0.0	3.058	0.05818	702	0.57624	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006674	0.000000	0.004167	0.002976	0.000000	0.000000	0.012422	0.011538	0.02632	720.33	34	chr16	2020112	.	G	A	720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=701;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=2.3;SOR=0.494	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	18	0	1	0
chr16	2087923	2087923	-	CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	exonic	TSC2	.	frameshift insertion	TSC2:NM_001318831:exon35:c.4318_4319insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1446Gfs*27,TSC2:NM_001318827:exon36:c.4741_4742insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1587Gfs*27,TSC2:NM_001318829:exon36:c.4705_4706insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1575Gfs*27,TSC2:NM_001077183:exon37:c.4849_4850insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1623Gfs*27,TSC2:NM_001318832:exon37:c.4882_4883insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1634Gfs*27,TSC2:NM_001363528:exon37:c.4852_4853insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1624Gfs*27,TSC2:NM_001114382:exon38:c.4981_4982insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1667Gfs*27,TSC2:NM_001370404:exon38:c.4918_4919insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1646Gfs*27,TSC2:NM_001370405:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_021055:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_000548:exon39:c.5050_5051insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1690Gfs*27	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	59024	Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided|Tuberous_sclerosis_syndrome	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0.0022	0.0004	0	0.0023	0.0004	0.0003	0.0001	0.0004	0.0009	0.0010	0.0013	0.0010	0.0010	0.0026	0.0008	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0012	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	694.29	34	chr16	2087923	.	T	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	694.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=700;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.84;ReadPosRankSum=-1.613;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	18	0	1	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I,PKD1:NM_001009944:exon45:c.G12436A:p.V4146I	Polycystic kidney disease, adult type I, Autosomal dominant	0	1451	67	4	0	75	0.0251931	.	.	.	255509	Polycystic_kidney_disease,_adult_type|Polycystic_kidney_disease|not_provided|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.000000	0.016349	0.005848	0.050000	0.025862	0.024390	0.015152	0.02632	2210.33	35	chr16	2090293	.	C	T	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=1047;ExcessHet=0;FS=8.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.093;SOR=1.154	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1256	18	0	1	0
chr16	2104617	2104617	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon22:c.G8042A:p.R2681H,PKD1:NM_001009944:exon22:c.G8042A:p.R2681H	Polycystic kidney disease, adult type I, Autosomal dominant	55	1461	6	0	0	6	0.00204918	.	.	.	1191772	not_provided|PKD1-related_disorder|Polycystic_kidney_disease,_adult_type	MedGen:C3661900|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.200604818504	0.0003	0.000599042	0.0005	0.0008	0	0	0	0.0002	0	0.0008	0.0001358	21	154602	rs200742306	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0017	0.0013	0.0007	0.0003	0.0003	0.0002	2.099e-05	0.0029	0.0002	0.0005	0.0004	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0003	0.0003	0.0004	0	0.0035	4.48e-05	0.0015	0.0007	0.162	0.23541	T	0.205	0.27145	T	0.022	0.20130	B	0.004	0.12992	B	0.099358	0.19938	N	0.532850	0.996461	0.23006	N	1.35	0.33515	L	1.33	0.35031	T	-1.0	0.26422	N	0.115	0.10340	-1.0511	0.14092	T	0.036	0.15334	T	10	0.03705749	0.02038	T	0.200605	0.86718	D	0.021	0.04004	.	.	0.65035256145	0.64745	0.23145852083170548	0.23060	.	.	0.309174269438	0.11782	T	0.236001	0.60339	T	-0.40344	0.02197	T	-0.493347	0.23039	T	0.0098210204489241	0.00129	T	0.773423	0.40508	T	0.02566341	0.01529	0.02986403	0.01372	0.03515183	0.04083	0.029063813	0.01204	-4.017	0.24057	T	0.2406231235730337	0.32593	0.071	0.03811	B	.;.	.;.	1.776712	0.22594	15.68	0.98366308695422755	0.40699	0.19273	0.20596	N	AEFI	0.124187	0.24013	N	-0.699365419846688	0.16039	0.8137369	-0.587963627494031	0.19806	1.064337	9.20117697821852E-6	0.01202	0.706298	0.61202	0	0.644132	0.57912	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.77	-0.209	0.12532	0.140000	0.15877	-0.709000	0.07759	0.575000	0.29119	0.923000	0.32050	0.008000	0.19753	0.910000	0.44547	0.0:0.3253:0.2699:0.4048	4.993	0.13569	680	0.59965	REJ domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003619	0.008333	0.000000	0.013636	0.000000	0.000000	0.000000	0.008547	0.02632	1102.33	39	chr16	2104617	.	C	T	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.284;DP=837;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.09;MQRankSum=-2.338;QD=12.67;ReadPosRankSum=-0.144;SOR=0.536	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr16	2109849	2109849	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.C5318T:p.T1773I,PKD1:NM_001009944:exon15:c.C5318T:p.T1773I	Polycystic kidney disease, adult type I, Autosomal dominant	8	1507	5	2	0	9	0.00297717	.	.	.	427486	Polycystic_kidney_disease|Polycystic_kidney_disease,_adult_type|not_provided|PKD1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.110	.	0.0007	0.00179712	0.0025	9.972e-05	0.0003	0	0	0.0008	0.0012	0.0142	0.0020181	312	154602	rs140162759	0.0018	0.0018	0.0014	0.0023	0.0140	0.0018	0.0018	0.0133	0.0130	0.0001	0.0003	0.0003	2.519e-05	0.0001	0.0019	0.0012	0.0013	0.0140	0.0010	0.0010	0.0007	0.0013	0.0139	0.0009	0.0008	0.0112	0.0102	0.0002	0	0.0001	0.0003	0.0002	0.0004	0	0.0010	0.0009	0.0139	0.149	0.24857	T	0.006	0.70582	D	0.434	0.35666	B	0.405	0.44649	B	0.040852	0.24013	N	0.485871	1	0.08975	N	1.09	0.27330	L	0.07	0.61677	T	-1.81	0.42575	N	0.191	0.20925	-0.8910	0.48846	T	0.150	0.47752	T	10	0.011328936	0.00248	T	.	.	.	0.110	0.31079	.	.	0.487287018651	0.48362	0.5312341658924361	0.53047	.	.	0.291497647762	0.09140	T	0.235843	0.60319	T	-0.508496	0.00512	T	-0.491519	0.23232	T	0.0122064155931029	0.00196	T	0.159484	0.01425	T	0.022032958	0.00840	0.036705226	0.03170	0.027155604	0.01868	0.040466808	0.04379	-6.522	0.50456	T	0.1896759428159911	0.24820	0.092	0.13690	B	.;.	.;.	-0.285994	0.02679	0.346	0.94808739146783294	0.25566	0.07990	0.13971	N	AEFBI	0.158293	0.28393	N	-1.17658971701761	0.05355	0.2439221	-1.29890202322246	0.04446	0.2097237	1.52963134720487E-4	0.05650	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	-2.69	0.05668	0.357000	0.19935	-1.204000	0.06033	-2.526000	0.00255	0.023000	0.19925	0.000000	0.08366	0.000000	0.00833	0.2416:0.5964:0.162:0.0	10.765	0.45485	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005202	0.000000	0.002740	0.004202	0.000000	0.000000	0.007246	0.007937	0.02632	2175.33	33	chr16	2109849	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=837;ExcessHet=0;FS=3.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=0.322;QD=12.15;ReadPosRankSum=0.817;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1307	18	0	1	0
chr16	2110903	2110903	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4264A:p.A1422T,PKD1:NM_001009944:exon15:c.G4264A:p.A1422T	Polycystic kidney disease, adult type I, Autosomal dominant	0	1459	63	0	0	63	0.0211338	.	.	YES	255621	Polycystic_kidney_disease,_adult_type|not_specified|Polycystic_kidney_disease|PKD1-related_disorder|Autosomal_dominant_polycystic_kidney_disease|not_provided	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0062	0.00439297	0.0060	0.0010	0.0039	0	0.0011	0.0087	0.0114	0.0046	0.0052587	813	154602	rs140980374	0.0055	0.0055	0.0055	0.0055	0.0489	0.0054	0.0053	0.0438	0.0418	0.0018	0.0039	0.0313	0	0.0015	0.0489	0.0052	0.0080	0.0043	0.0050	0.0050	0.0051	0.0048	0.0066	0.0047	0.0046	0.0056	0.0055	0.0011	0	0.0066	0.0343	0.0002	0.0011	0.0476	0.0061	0.0109	0.0052	0.408	0.10212	T	0.469	0.12281	T	0.083	0.24734	B	0.016	0.17743	B	0.050289	0.02010	N	1.849850	1	0.08975	N	0.09	0.08384	N	0.2	0.60111	T	0.14	0.07299	N	0.085	0.10056	-1.0837	0.06646	T	0.063	0.26101	T	10	0.004206896	0.00084	T	.	.	.	0.018	0.03083	.	.	0.554512861526	0.55110	0.1595016433388556	0.15871	.	.	0.313498318195	0.12435	T	0.14814	0.48654	T	-0.574826	0.00207	T	-0.588086	0.13831	T	0.000983470398017093	0.00009	T	0.241376	0.03476	T	0.026695253	0.01759	0.039109476	0.03930	0.024509832	0.01289	0.03141386	0.01727	-4.259	0.27598	T	.	.	0.068	0.02765	B	.;.	.;.	-0.537291	0.01752	0.132	0.5816343026315014	0.05931	0.08769	0.14649	N	AEFDBI	0.101493	0.20382	N	-1.57943668556335	0.01370	0.05972494	-1.60320823478749	0.01636	0.0742432	6.34175795696538E-4	0.07505	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.77	-1.84	0.07387	-0.060000	0.11669	-3.211000	0.02967	-1.044000	0.01656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1824:0.3674:0.0:0.4502	3.443	0.07038	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.040541	0.012346	0.061644	0.068376	0.166667	0.051724	0.010204	0.012000	0.02632	1847.33	33	chr16	2110903	.	C	T	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=1140;ExcessHet=0;FS=2.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.68;SOR=0.671	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1307	18	0	1	0
chr16	2118223	2118223	-	GGCAGGAGGTGGC	exonic	PKD1	.	frameshift insertion	PKD1:NM_000296:exon5:c.768_769insGCCACCTCCTGCC:p.P257Afs*8,PKD1:NM_001009944:exon5:c.768_769insGCCACCTCCTGCC:p.P257Afs*8	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	687.29	39	chr16	2118223	.	G	GGGCAGGAGGTGGC	687.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.686;DP=751;ExcessHet=0;FS=2.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-1.317;QD=19.09;ReadPosRankSum=-0.729;SOR=1.239	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr16	2119356	2119356	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon2:c.C238T:p.R80W,PKD1:NM_001009944:exon2:c.C238T:p.R80W	Polycystic kidney disease, adult type I, Autosomal dominant	545	969	8	0	0	8	0.004111	.	.	YES	577534	not_provided|PKD1-related_disorder|Polycystic_kidney_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00219649	0.0075	0	0	0	0	0	0	0.0121	0.0006921	107	154602	rs551353498	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	9.95e-05	2.807e-05	4.037e-05	5.652e-05	0	0.0010	3.939e-05	0.0007	0.0078	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0.0005	0.0056	0.015	0.52492	D	0.012	0.63918	D	0.9	0.73220	P	0.091	0.55321	B	0.199432	0.03309	N	1.587640	0.999614	0.20864	N	1.58	0.39772	L	0.26	0.59314	T	-1.81	0.42575	N	0.193	0.21188	-0.8608	0.51205	T	0.248	0.61774	T	10	0.0040474236	0.00079	T	.	.	.	0.120	0.33359	0.512	0.61000	0.644203187842	0.64126	0.46324754649053035	0.46243	.	.	0.451600849628	0.32163	T	0.214	0.57610	T	-0.43056	0.01471	T	-0.38357	0.35305	T	0.060400952942826	0.07232	T	0.823318	0.48387	T	0.088110246	0.20543	0.085825704	0.19842	0.09365176	0.22001	0.08501236	0.19598	-5.776	0.44365	T	0.1541497049771006	0.18388	0.087	0.11317	B	.;.	.;.	3.002038	0.40112	21.1	0.99866667057876324	0.94457	0.23783	0.22187	N	AEFBI	0.174533	0.30167	N	0.0103354221585962	0.42325	2.548011	-0.0823472277313929	0.36119	2.098032	0.938425350888014	0.27342	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.27	3.23	0.36150	1.406000	0.34254	5.270000	0.48149	0.660000	0.55035	0.052000	0.21487	0.994000	0.32194	0.120000	0.19168	0.1125:0.0:0.6076:0.2799	4.794	0.12630	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	620.33	34	chr16	2119356	.	G	A	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.86;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.04;MQRankSum=-1.209;QD=13.2;ReadPosRankSum=-0.807;SOR=1.008	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr16	2165882	2165882	A	G	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon3:c.A85G:p.R29G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.030951922472	.	0.00119808	0.0006	0	0	0.0082	0	0	0	0	0.0004981	77	154602	rs77497016	0.0003	0.0003	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0103	0	0	0	0.0115	0	0	1.799e-06	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0.0054	0	0	0	0	0.0002	0.017	0.61437	D	0.048	0.92824	D	0.361	0.33905	B	0.075	0.28327	B	0.000009	0.62929	D	0.108809	0.99985	0.49910	D	0.695	0.17993	N	1.52	0.30669	T	-0.61	0.42575	N	0.75	0.80278	-1.0983	0.04303	T	0.042	0.18243	T	10	0.0077515244	0.00176	T	0.030952	0.53145	D	0.188	0.46444	.	.	0.325533332567	0.32158	0.3549238182242179	0.35406	0.0223116753289	0.02243	0.64713293314	0.59578	T	0.109219	0.42290	T	-0.403062	0.02211	T	-0.348997	0.39319	T	0.143215911742393	0.16548	T	0.885811	0.61165	D	0.1269471	0.29721	0.15346025	0.36059	0.113841444	0.26881	0.109014824	0.26268	-3.275	0.13417	T	.	.	0.294	0.65024	B	.;.;.	.;.;.	3.815964	0.55073	23.6	0.98898973184893224	0.48145	0.99492	0.96688	D	AEFGBI	0.942974	0.94822	D	0.0580102982167459	0.44511	2.723878	0.18323967940762	0.48929	3.102402	0.99999999987879	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	7.812000	0.84643	10.980000	0.84596	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	1.0:0.0:0.0:0.0	14.185	0.65143	588	0.69043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2819.33	42	chr16	2165882	.	A	G	2819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.747;DP=946;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.31;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	18	0	1	0
chr16	2181024	2181024	T	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.A2344G:p.K782E	.	417	1094	11	0	0	11	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0027	0.00359425	0.0063	0.0007	0.0011	0	0.0058	0.0073	0.0067	0.0165	0.0029819	461	154602	rs183093419	0.0052	0.0048	0.0049	0.0054	0.0097	0.0051	0.0050	0.0091	0.0088	0.0005	0.0009	0.0056	8.469e-05	0.0026	0.0039	0.0054	0.0043	0.0097	0.0034	0.0034	0.0034	0.0035	0.0110	0.0032	0.0031	0.0087	0.0078	0.0006	0	0.0020	0.0055	0.0004	0.0027	0	0.0053	0.0024	0.0110	0.005	0.63226	D	0.091	0.40110	T	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.997843	0.44246	D	1.955	0.52871	M	-0.89	0.74793	T	-1.99	0.45949	N	0.392	0.43320	-0.2133	0.77327	T	0.469	0.79556	T	9	0.0066529214	0.00151	T	.	.	.	0.323	0.64522	.	.	0.618427732164	0.61534	0.12256967062412229	0.12182	1.14369453892	0.79008	0.847276806831	0.89203	D	0.032	0.22383	T	-0.31767	0.07090	T	-0.222548	0.52490	T	0.0668162095816121	0.08196	T	0.782222	0.41780	T	0.27114758	0.50185	0.25164485	0.50779	0.27114758	0.50185	0.25164485	0.50778	-6.026	0.46497	T	.	.	0.327	0.55004	B	.	.	4.375281	0.67400	25.1	0.9968489404498786	0.79507	0.82774	0.41957	D	AEFBCI	0.621475	0.60615	D	0.324367891228629	0.57400	3.90736	0.238557677830413	0.52002	3.378056	0.150947528564716	0.17438	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.03	4.03	0.46115	5.828000	0.68999	6.099000	0.53531	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.0:1.0	11.920	0.52072	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005092	0.000000	0.000000	0.000000	0.000000	0.000000	0.012270	0.018939	0.02632	582.33	33	chr16	2181024	.	T	C	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.764;DP=732;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.315;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1149	18	0	1	0
chr16	2181209	2181209	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2159T:p.P720L	.	395	1122	5	0	0	5	0.00222321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0055	0.00399361	0.0090	0.0008	0.0051	0	0.0189	0.0129	0.012	0.0017	0.0061772	955	154602	rs188507692	0.0091	0.0090	0.0094	0.0087	0.0104	0.0089	0.0089	0.0102	0.0102	0.0017	0.0047	0.0060	2.537e-05	0.0115	0.0053	0.0104	0.0077	0.0015	0.0061	0.0061	0.0064	0.0058	0.0092	0.0058	0.0057	0.0086	0.0084	0.0014	0	0.0051	0.0072	0	0.0119	0.0102	0.0092	0.0047	0.0008	0.003	0.68238	D	0.097	0.39190	T	0.524	0.37583	P	0.138	0.33406	B	.	.	.	.	0.585028	0.31068	N	2.045	0.56016	M	-0.2	0.66113	T	-2.09	0.47683	N	0.245	0.27673	-0.6997	0.60453	T	0.123	0.42483	T	9	0.0057251453	0.00127	T	.	.	.	0.084	0.24469	.	.	0.570103631431	0.56676	0.1489817435468175	0.14820	0.402729145482	0.41217	0.734392762184	0.72149	T	0.010488	0.09467	T	-0.42315	0.01633	T	-0.371207	0.36748	T	0.0221631123262702	0.00927	T	0.844016	0.52137	T	0.07721624	0.17513	0.15638788	0.36617	0.07721624	0.17513	0.15638788	0.36616	-6.602	0.51068	T	.	.	0.109	0.20741	B	.	.	3.925597	0.57339	23.8	0.99249037727150702	0.56825	0.89328	0.49726	D	AEFDBI	0.378915	0.46213	N	0.116935023931342	0.47253	2.953605	0.186888898501984	0.49128	3.119793	0.425656624501399	0.20328	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.19	4.19	0.48645	2.919000	0.48534	11.722000	0.94835	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.103:0.0:0.897:0.0	9.109	0.35878	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006592	0.020833	0.008197	0.002959	0.000000	0.017241	0.003106	0.000000	0.02632	579.33	47	chr16	2181209	.	G	A	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=704;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.492;SOR=0.321	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1149	18	0	1	0
chr16	2181449	2181449	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C1919T:p.T640I	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0385003272841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420394368	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.022	0.48642	D	0.313	0.19539	T	0.097	0.25541	B	0.023	0.19966	B	.	.	.	.	0.996776	0.22906	N	1.1	0.28011	L	-0.19	0.65931	T	-0.96	0.25551	N	0.161	0.16864	-0.9903	0.32525	T	0.146	0.47038	T	9	0.13863775	0.26364	T	0.038	0.58257	D	0.044	0.11924	0.196	0.10839	0.540398724887	0.53692	0.2534718499261308	0.25261	0.330248742223	0.35112	0.453457891941	0.32416	T	0.009029	0.08246	T	-0.115343	0.33887	T	-0.403458	0.32983	T	0.148741489190751	0.17002	T	0.644736	0.25622	T	0.081043325	0.18601	0.06948308	0.14644	0.081043325	0.18601	0.06948308	0.14644	-7.071	0.54551	T	.	.	0.093	0.14155	B	.	.	1.753000	0.22303	15.56	0.71546561601365977	0.09666	0.96990	0.72056	D	AEFBI	0.436332	0.49659	N	-0.317566566193033	0.28480	1.571266	-0.219316643102321	0.30842	1.740191	0.98009451854256	0.30098	0.615465	0.37627	0	0.633656	0.55848	0	0.26897	0.05253	2	0.567892	0.33627	0	.	.	4.41	4.41	0.52588	4.306000	0.58911	2.999000	0.35913	0.676000	0.76740	0.991000	0.37257	0.770000	0.26692	0.001000	0.02609	0.0:0.0:1.0:0.0	12.367	0.54563	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	934.33	41	chr16	2181449	.	G	A	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=754;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.175;SOR=0.566	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1149	18	0	1	0
chr16	2184794	2184794	G	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon14:c.C1399G:p.P467A	.	.	.	.	.	.	.	.	.	.	.	3644182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0197898405826	.	.	3.443e-05	0	0	0	0	5.852e-05	0	0	1.94e-05	3	154602	rs747303156	2.326e-05	2.257e-05	1.427e-05	3.259e-05	0.0004	1.683e-05	1.441e-05	6.825e-05	2.856e-05	0	0	0	0	0	0.0004	2.524e-05	3.534e-05	1.361e-05	1.97e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.356	0.12070	T	0.961	0.02542	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999833	0.20152	N	0.74	0.18910	N	-0.14	0.65006	T	-1.53	0.37178	N	0.126	0.11912	-0.9506	0.40868	T	0.125	0.42924	T	9	0.03356889	0.01537	T	0.01979	0.42241	T	0.102	0.29158	.	.	0.485221517782	0.48155	0.2992959035331324	0.29842	0.271202250786	0.29639	0.367006182671	0.20401	T	0.010569	0.09530	T	-0.323282	0.06633	T	-0.518133	0.20484	T	0.0400768804353165	0.03704	T	0.636736	0.25039	T	0.033704236	0.03642	0.038862117	0.03850	0.033704236	0.03641	0.038862117	0.03849	-7.106	0.54804	T	.	.	0.048	0.00094	B	.	.	0.531088	0.08997	5.780	0.20375083889147977	0.00730	0.07869	0.13860	N	AEFBI	0.092445	0.18715	N	-1.12602944343334	0.06184	0.2839642	-1.16836034350242	0.06445	0.3102379	0.0109389345464471	0.12105	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	4.92	-2.89	0.05326	0.022000	0.13402	0.916000	0.22667	0.676000	0.76740	0.000000	0.06391	0.825000	0.27162	0.204000	0.22012	0.0755:0.4841:0.3165:0.1238	6.734	0.22587	654	0.62520	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1260.33	43	chr16	2184794	.	G	C	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.189;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.5;SOR=0.769	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1232	18	0	1	0
chr16	2233076	2233076	A	G	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288776:exon7:c.A949G:p.T317A,E4F1:NM_001288778:exon7:c.A949G:p.T317A,E4F1:NM_004424:exon7:c.A949G:p.T317A	.	.	.	.	.	.	.	.	.	.	.	3238303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00448432817466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.18498	T	0.738	0.24264	T	0.057	0.22878	B	0.015	0.17295	B	0.003688	0.34611	N	0.344240	0.999776	0.20412	N	2.3	0.65703	M	3.33	0.07711	T	-0.91	0.35399	N	0.201	0.22228	-0.9963	0.30946	T	0.017	0.06950	T	10	0.08922881	0.15438	T	0.004484	0.11000	T	0.057	0.16321	0.476	0.55342	0.458374381611	0.45463	0.2034286680933642	0.20259	0.370209882676	0.38549	0.413405358791	0.26928	T	0.072201	0.34396	T	-0.271695	0.11568	T	-0.628047	0.10563	T	0.124008562039613	0.14818	T	0.679032	0.29028	T	0.035544943	0.04203	0.037324574	0.03361	0.035544943	0.04202	0.037324574	0.03361	-4.437	0.30055	T	.	.	0.108	0.24157	B	.;.;.	.;.;.	2.038482	0.25908	16.93	0.91508548931370959	0.20783	0.59296	0.30876	D	AEFGBHCI	0.068495	0.13515	N	-0.337260616611051	0.27743	1.524604	-0.254003958253921	0.29633	1.661797	0.999984142077933	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	4.22	0.49153	0.452000	0.21508	4.601000	0.43997	0.751000	0.87719	0.359000	0.25834	1.000000	0.68203	0.926000	0.46234	0.7649:0.0:0.082:0.1531	5.490	0.16063	538	0.73119	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	41	chr16	2233076	.	A	G	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.406;SOR=0.755	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1530	18	0	1	0
chr16	2235436	2235436	G	A	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288778:exon12:c.G1688A:p.R563Q,E4F1:NM_004424:exon14:c.G2219A:p.R740Q	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.012961150524	0.0044	0.00259585	0.0050	0.0005	0.0032	0	0.0057	0.0078	0.0048	0.0004	0.0050517	781	154602	rs138375156	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0069	0.0013	0.0044	0.0063	2.519e-05	0.0041	0.0045	0.0071	0.0060	0.0002	0.0046	0.0046	0.0048	0.0043	0.0069	0.0043	0.0042	0.0064	0.0062	0.0011	0	0.0067	0.0072	0	0.0041	0.0102	0.0069	0.0043	0	0.084	0.39097	T	0.548	0.12812	T	0.052	0.22494	B	0.006	0.12133	B	0.022108	0.26699	N	0.355876	1	0.81001	D	1.61	0.41143	L	1.3	0.35590	T	-0.29	0.11728	N	0.492	0.52563	-1.0926	0.05112	T	0.031	0.13286	T	10	0.005156547	0.00112	T	0.012961	0.31981	T	0.097	0.27909	.	.	0.571828761226	0.56849	0.49463377214551035	0.49384	0.471285008066	0.46396	0.399411261082	0.24987	T	0.05161	0.28927	T	-0.419165	0.01732	T	-0.365483	0.37417	T	0.0155301316766612	0.00352	T	0.863414	0.55914	D	0.050063767	0.08988	0.043875284	0.05557	0.050063767	0.08988	0.043875284	0.05557	-0.355	0.00502	T	.	.	0.102	0.19478	B	.;.	.;.	3.646354	0.51727	23.1	0.99481996493330382	0.66959	0.92625	0.56153	D	AEFDGBHCI	0.212934	0.33857	N	-0.390851974946865	0.25793	1.402884	-0.244149044370716	0.29973	1.683682	0.999994911262162	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.2	0.48814	2.499000	0.45032	6.517000	0.55822	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.012000	0.09680	0.18:0.0:0.82:0.0	8.355	0.31486	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003532	0.010204	0.004076	0.002941	0.000000	0.008621	0.003049	0.000000	0.02632	2443.33	155	chr16	2235436	.	G	A	2443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.37;DP=853;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.48;SOR=0.735	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M	.	429	1039	50	4	0	58	0.0271536	.	.	.	967234	Complex_I_deficiency|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.015152	0.010870	0.032164	0.050000	0.008621	0.036810	0.049242	0.02632	772.33	33	chr16	2246926	.	G	A	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=669;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.387;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	18	0	1	0
chr16	2456748	2456748	G	A	exonic	CCNF	.	nonsynonymous SNV	CCNF:NM_001323538:exon16:c.G1165A:p.V389I,CCNF:NM_001761:exon17:c.G2089A:p.V697I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00542637082952	.	.	8.339e-06	0	0	0	0	0	0	6.238e-05	6.5e-06	1	154602	rs747219952	8.904e-06	8.893e-06	6.813e-06	1.102e-05	5.978e-05	4.97e-06	3.83e-06	1.585e-05	9.31e-06	5.978e-05	0	0	5.041e-05	0	0	3.6e-06	1.658e-05	4.646e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.331	0.18505	T	0.0	0.02946	B	0.0	0.01387	B	0.234713	0.03542	N	1.519900	1	0.08975	N	-0.41	0.02942	N	2.0	0.21473	T	0.07	0.06138	N	0.018	0.00252	-1.0141	0.25625	T	0.045	0.19194	T	10	0.02649799	0.00815	T	0.005426	0.13923	T	0.108	0.30607	0.162	0.06618	0.394230963961	0.39037	0.047249534697402035	0.04667	0.1515365786	0.17104	0.250488102436	0.03819	T	0.05443	0.29723	T	-0.600805	0.00144	T	-0.808642	0.01695	T	0.00831849285178106	0.00100	T	0.390061	0.09662	T	0.030712064	0.02783	0.038237922	0.03650	0.030712064	0.02782	0.038237922	0.03650	-4.503	0.30928	T	0.062357212926859674	0.01843	0.061	0.01109	B	.	.	-0.168029	0.03258	0.553	0.83819322411788844	0.14937	0.04950	0.10712	N	AEFBCI	0.051983	0.09235	N	-1.36769684791042	0.02946	0.1308473	-1.4443969623864	0.02821	0.1304719	0.996411901457977	0.34729	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	-6.16	0.01919	-1.080000	0.03517	-0.876000	0.07083	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.384000	0.26424	0.2288:0.0:0.7712:0.0	16.125	0.81196	719	0.55657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3735.33	34	chr16	2456748	.	G	A	3735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=894;ExcessHet=0;FS=3.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.224;SOR=0.496	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1456	18	0	1	0
chr16	2500376	2500376	G	A	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_020705:exon6:c.G1393A:p.A465T,TBC1D24:NM_001199107:exon7:c.G1411A:p.A471T	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	413424	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_1|Autosomal_dominant_nonsyndromic_hearing_loss_65|Caused_by_mutation_in_the_TBC1_domain_family,_member_24|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635|MedGen:CN236805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.00858576409096	8e-05	.	0.0002	0	0.0002	0	0.0004	0.0002	0.0039	0.0003	0.00011	17	154602	rs377448015	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	3.005e-05	0.0005	3.851e-05	0	0.0004	0.0007	0.0001	8.331e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0010	0.0001	0.0001	0.0006	0.0005	4.813e-05	0	0.0010	0	0	0.0003	0	0.0001	0	0.0002	0.617	0.05357	T	0.615	0.07592	T	0.0	0.02946	B	0.001	0.04355	B	0.002674	0.00906	N	2.987030	1	0.08975	N	0.61	0.15665	N	1.98	0.21865	T	-0.37	0.13226	N	0.068	0.04913	-1.0363	0.18450	T	0.035	0.15160	T	10	0.031176627	0.03546	T	0.008586	0.22705	T	0.025	0.05312	.	.	0.252681307341	0.24864	0.1834568673160554	0.18264	0.32686761213	0.34828	0.262539297342	0.05197	T	0.004471	0.03877	T	-0.617205	0.00114	T	-0.781618	0.02405	T	0.00809206108249286	0.00096	T	0.117988	0.17581	T	0.026329888	0.01678	0.03417076	0.02437	0.026329888	0.01677	0.03417076	0.02437	-3.554	0.17281	T	.	.	0.060	0.01026	B	.;.;.;.;.	.;.;.;.;.	-1.262979	0.00471	0.010	0.64440050866227094	0.07494	0.01041	0.03890	N	AEFBI	0.034518	0.04290	N	-1.76658838211243	0.00632	0.02726166	-1.90169309019948	0.00486	0.02152445	0.999987106594581	0.51787	0.651	0.46895	0	0.633656	0.55848	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.14	-10.2	0.00305	-2.967000	0.00734	-1.731000	0.04830	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4393:0.0837:0.393:0.084	5.359	0.15379	706	0.57215	TLDc domain;TLDc domain;TLDc domain;.;TLDc domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000507	0.000000	0.001366	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1635.81	34	chr16	2500376	.	G	A	1635.81	.	AC=2;AF=0.053;AN=38;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.2;SOR=0.836	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1058	18	1	0	0
chr16	2530767	2530767	C	A	exonic	CEMP1	.	nonsynonymous SNV	CEMP1:NM_001048212:exon1:c.G307T:p.A103S	.	366	1153	1	2	0	5	0.00216357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00465867387801	.	0.00159744	0.0009	0	0	0	0	0	0	0.0064	0.0007309	113	154602	rs535834483	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0058	0.0057	0	0	0	0	0	0	8.994e-07	0.0006	0.0063	0.0002	0.0002	0.0001	0.0003	0.0070	0.0002	0.0001	0.0052	0.0045	2.407e-05	0	0	0	0	0	0	0	0	0.0070	.	.	.	.	.	.	0.833	0.46172	P	0.556	0.49411	P	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	0.57	0.54347	T	-3.0	0.62343	D	0.069	0.04188	-1.0053	0.28368	T	0.089	0.34160	T	9	0.004079193	0.00080	T	0.004659	0.11566	T	.	.	0.254	0.19378	0.302459207581	0.29844	0.010565041243008824	0.01017	.	.	0.30573797226	0.11262	T	0.067472	0.33211	T	-0.643136	0.00080	T	-0.694123	0.06153	T	0.136744257976883	0.15991	T	0.268373	0.04464	T	0.38712102	0.59827	0.20414275	0.44525	0.38712102	0.59828	0.20414275	0.44524	-4.044	0.24460	T	.	.	0.154	0.34049	B	.	.	0.571493	0.09400	6.180	0.56491433003601443	0.05564	0.05413	0.11283	N	AEFBCI	0.044776	0.07245	N	-0.987216038813013	0.08875	0.4178824	-1.19445093197293	0.06001	0.2876134	0.999993881563745	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	1.86	-2.23	0.06539	-1.712000	0.01985	0.000000	0.13247	-0.180000	0.10397	0.000000	0.06391	0.049000	0.21787	0.000000	0.00833	0.0:0.3083:0.5283:0.1633	4.877	0.13021	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1961.33	139	chr16	2530767	.	C	A	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.003;DP=770;ExcessHet=0;FS=6.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=2.27;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr16	2682627	2682627	C	T	exonic	KCTD5	.	nonsynonymous SNV	KCTD5:NM_018992:exon1:c.C79T:p.R27C	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.44571112274	.	.	4.087e-05	0	0	0	0	7.511e-05	0	0	2.59e-05	4	154602	rs746283358	3.474e-05	3.625e-05	3.383e-05	3.567e-05	3.942e-05	2.66e-05	2.396e-05	2.97e-05	2.639e-05	3.45e-05	2.725e-05	0	0	1.97e-05	0	3.942e-05	5.175e-05	0	3.943e-05	3.94e-05	6.424e-05	1.345e-05	8.823e-05	1.716e-05	1.13e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0	0.009	0.68238	D	0.012	0.83351	D	0.001	0.07471	B	0.001	0.04355	B	0.003267	0.35183	N	0.217169	0.999592	0.47742	D	0.895	0.22405	L	0.54	0.75670	T	-1.93	0.60827	N	0.444	0.48227	-1.0474	0.15130	T	0.086	0.33578	T	10	0.42596036	0.57175	T	0.445711	0.94248	D	0.253	0.56294	0.544	0.65731	0.919406210788	0.91859	0.6569889115355081	0.65635	1.76735228877	0.91241	0.912573575974	0.97708	D	0.049587	0.28350	T	-0.0995209	0.36503	T	-0.179694	0.56551	T	0.241336360770785	0.22481	T	0.872513	0.57956	D	0.13955201	0.32232	0.15904742	0.37112	0.13955201	0.32232	0.15904742	0.37111	-3.459	0.15863	T	.	.	0.403	0.59722	A	.;.	.;.	3.378343	0.46720	22.3	0.99419704321555424	0.63694	0.17497	0.19862	N	AEFGBHCIJ	0.094883	0.19179	N	-0.557978908899758	0.20234	1.065177	-0.473004640675443	0.22900	1.246172	0.999999999976167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	2.32	0.27895	1.064000	0.30189	1.972000	0.29992	0.596000	0.33519	0.133000	0.23395	0.959000	0.29258	0.003000	0.05239	0.185:0.7144:0.0:0.1007	6.053	0.19018	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	33	chr16	2682627	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=735;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.73;SOR=0.815	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1291	18	0	1	0
chr16	2760468	2760468	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon10:c.C1001T:p.P334L	.	429	1052	40	1	0	42	0.0195713	.	.	.	714827	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0014	0.00599042	0.0050	0.0004	0.0012	0	0.0008	0.0017	0.0033	0.0284	0.0045536	704	154602	rs150235008	0.0036	0.0036	0.0028	0.0044	0.0295	0.0035	0.0035	0.0285	0.0281	0.0004	0.0005	0.0065	5.038e-05	0.0009	0.0073	0.0020	0.0038	0.0295	0.0022	0.0022	0.0015	0.0030	0.0303	0.0020	0.0019	0.0263	0.0248	0.0003	0	0.0014	0.0058	0	0.0011	0.0102	0.0018	0.0005	0.0303	.	.	.	0.013	0.63109	D	1.0	0.90584	D	0.994	0.82059	D	0.003417	0.34985	N	0.135832	0.999074	0.46009	D	0.625	0.15840	N	1.8	0.25344	T	-2.52	0.54702	D	0.348	0.43706	-1.0132	0.25912	T	0.086	0.33326	T	10	0.0022793114	0.00033	T	.	.	.	0.103	0.29403	.	.	0.412458657427	0.40865	0.27737802147857227	0.27650	.	.	0.478136509657	0.35799	T	0.504773	0.82371	D	-0.464571	0.00920	T	-0.418471	0.31251	T	0.0348089445553392	0.02776	T	0.757724	0.57909	T	0.4271423	0.62565	0.27981788	0.53952	0.4271423	0.62566	0.27981788	0.53951	-5.044	0.37314	T	.	.	0.105	0.22680	B	.;.;.;.;.;.	.;.;.;.;.;.	2.926091	0.38855	20.8	0.90844783422658293	0.20094	0.53748	0.29447	D	AEFDBCI	0.256925	0.37576	N	0.289230763709058	0.55602	3.724228	0.280865838242416	0.54422	3.607319	0.999999990689739	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.184000	0.42205	3.997000	0.41039	0.599000	0.40250	0.369000	0.25916	0.999000	0.35428	0.921000	0.45669	0.0:1.0:0.0:0.0	13.773	0.62523	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.004076	0.002924	0.000000	0.008621	0.003067	0.015152	0.05263	5836.81	33	chr16	2760468	.	C	T	5836.81	.	AC=2;AF=0.053;AN=38;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=1.049	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	18	1	0	0
chr16	2763616	2763616	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C3088T:p.P1030S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0464520435173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312267845	2.668e-05	2.668e-05	2.995e-05	2.338e-05	0.0002	1.997e-05	1.754e-05	2.37e-05	2.103e-05	2.987e-05	0	0	0	0	0.0002	3.237e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.22426	T	0.0	0.02946	B	0.0	0.01387	B	0.059157	0.22346	N	0.429652	1	0.08975	N	-1.63	0.00401	N	-3.45	0.94469	D	0.7	0.02163	N	0.076	0.05037	-0.5430	0.67050	T	0.360	0.72163	T	10	0.034046233	0.01599	T	0.046452	0.62466	D	0.179	0.44899	.	.	0.301455362545	0.29754	0.12360561046265911	0.12286	.	.	0.242458999157	0.03016	T	0.092704	0.39060	T	-0.062034	0.42588	T	-0.326884	0.41815	T	0.0332508452311209	0.02513	T	0.635836	0.24975	T	0.025711128	0.01540	0.042583972	0.05107	0.025711128	0.01539	0.042583972	0.05107	-0.754	0.00764	T	.	.	0.062	0.01197	B	.	.	0.407341	0.07786	4.471	0.26567961889818931	0.01279	0.03497	0.08668	N	AEFBHCI	0.040135	0.05927	N	-1.398129518322	0.02656	0.1175925	-1.25494485715225	0.05058	0.2401227	0.999921221616472	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	3.08	0.34576	1.889000	0.39352	0.261000	0.16544	-0.218000	0.08083	0.303000	0.25352	0.011000	0.20116	0.012000	0.09680	0.0:0.1008:0.1751:0.7241	5.431	0.15752	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2134.33	99	chr16	2763616	.	C	T	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=1656;ExcessHet=0;FS=6.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.14;SOR=0.525	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr16	2766143	2766143	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C5615T:p.T1872I	.	425	1096	0	1	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0134273394559	.	0.000199681	6.593e-05	0	0	0	0	8.995e-05	0	0.0001	5.82e-05	9	154602	rs200333456	4.788e-05	4.788e-05	4.356e-05	5.225e-05	0.0012	3.86e-05	3.54e-05	0.0006	0.0004	0	0	3.826e-05	5.038e-05	0	0.0012	3.327e-05	0.0001	0.0002	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	0.066	0.44501	T	0.622	0.39964	P	0.149	0.34106	B	0.002330	0.36766	N	0.192706	0.841518	0.28624	N	0	0.06538	N	1.86	0.24285	T	-1.13	0.29114	N	0.383	0.42443	-1.0706	0.09282	T	0.032	0.13679	T	10	0.09181684	0.16116	T	0.013427	0.32827	T	0.112	0.31546	0.29	0.25081	0.383760037723	0.37989	0.20803893501099052	0.20719	.	.	0.60723310709	0.53925	T	0.23593	0.60330	T	-0.305411	0.08158	T	-0.416799	0.31442	T	0.0673451389941769	0.08273	T	0.817118	0.47377	T	0.2860349	0.51621	0.20541894	0.44711	0.2860349	0.51621	0.20541894	0.44710	-5.271	0.39655	T	.	.	0.336	0.55631	B	.	.	3.321861	0.45692	22.2	0.79313625079990302	0.12685	0.95351	0.64382	D	AEFDGBHCI	.	.	.	0.0210622767420287	0.42812	2.586748	0.169318431692452	0.48174	3.036995	0.999999726915035	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	1.260000	0.32571	5.823000	0.50099	0.599000	0.40250	0.444000	0.26519	0.986000	0.30841	0.999000	0.91618	0.0:0.8293:0.1707:0.0	12.300	0.54187	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	7169.83	72	chr16	2766143	.	C	T	7169.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=1855;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.41;SOR=0.661	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1425	17	0	2	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07895	3821.79	33	chr16	2770683	.	C	T	3821.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.357;DP=884;ExcessHet=0.3672;FS=13.505;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.009;SOR=0.969	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	16	0	3	0
chr16	2785405	2785405	C	G	exonic	PRSS33	.	nonsynonymous SNV	PRSS33:NM_001385462:exon5:c.G484C:p.V162L,PRSS33:NM_001385463:exon5:c.G484C:p.V162L,PRSS33:NM_001385464:exon5:c.G484C:p.V162L,PRSS33:NM_152891:exon5:c.G484C:p.V162L	.	419	1102	1	0	0	1	0.000453515	.	.	.	2369174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.631	0.595019559568	.	.	0.0005	0	0	0	0	0.0008	0	0	3.88e-05	6	154602	rs769756854	5.128e-05	5.267e-05	5.318e-05	4.928e-05	0.0008	4.135e-05	3.772e-05	0.0002	0.0001	0	0	0	0	0	0.0008	5.673e-05	5.63e-05	1.568e-05	5.257e-05	5.253e-05	6.423e-05	4.035e-05	0.0001	2.557e-05	1.83e-05	2.847e-05	1.858e-05	2.412e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	0.967	0.56408	D	0.838	0.60045	P	0.000115	0.50451	D	0.000000	0.950786	0.81001	D	1.135	0.28956	L	-1.78	0.83737	D	-2.78	0.58896	D	0.387	0.51940	0.289	0.87381	D	0.568	0.84345	D	10	0.5747701	0.65518	D	0.59502	0.96415	D	0.631	0.85821	0.682	0.81982	0.700495927226	0.69790	0.7967400683919147	0.79627	1.08659659648	0.77305	0.885655641556	0.94708	D	0.473434	0.84370	T	-0.0748647	0.40546	T	-0.148343	0.59391	T	0.604500293731689	0.36579	D	0.944206	0.78893	D	0.62954605	0.74274	0.7506882	0.85264	0.62954605	0.74275	0.7506882	0.85265	-10.577	0.77288	D	.	.	0.580	0.68031	P	.;.;.	.;.;.	4.166246	0.62610	24.5	0.99533008777493326	0.70025	0.91190	0.53037	D	AEFDBI	0.415567	0.48438	N	0.328674779614922	0.57624	3.930584	0.289663476964895	0.54934	3.657207	0.999998596335944	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.74	4.74	0.59717	1.619000	0.36575	3.176000	0.36634	0.526000	0.24426	0.676000	0.28402	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	15.247	0.73203	576	0.70006	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	347.33	19	chr16	2785405	.	C	G	347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=622;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.22;SOR=0.893	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,778	18	0	1	0
chr16	2799410	2799410	C	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.C421G:p.L141V	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0029	0	0	0	0.0006	0.0037	0.0082	0.0035	0.0007244	112	154602	rs61747736	0.0023	0.0022	0.0023	0.0023	0.0046	0.0023	0.0022	0.0032	0.0027	0.0003	0.0006	0.0026	0	0.0009	0.0046	0.0025	0.0020	0.0030	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0002	0	0.0007	0.0026	0	0.0010	0	0.0024	0.0009	0.0023	.	.	.	.	.	.	0.022	0.18677	B	0.063	0.27082	B	.	.	.	.	.	.	.	-0.035	0.05024	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006442189	0.00146	T	.	.	.	.	.	.	.	.	.	0.49822769540664114	0.49743	.	.	0.239097505808	0.02710	T	0.205657	0.56477	T	.	.	.	.	.	.	.	.	.	0.327067	0.06771	T	0.027999746	0.02073	0.053832747	0.09143	0.027999746	0.02073	0.053832747	0.09143	-3.782	0.20536	T	.	.	0.070	0.03372	B	.	.	-2.139565	0.00074	0.001	0.43225363809078776	0.03240	0.02797	0.07515	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999968962116	0.74766	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.0664013	0.15811	4.53	-9.06	0.00623	-10.283000	0.00010	-4.160000	0.02308	-2.035000	0.00427	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1243:0.4085:0.2202:0.2471	2.478	0.04302	513	0.74941	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003006	0.000000	0.000000	0.008130	0.000000	0.000000	0.000000	0.009434	0.02632	2928.33	34	chr16	2799410	.	C	G	2928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=857;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.311;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1156	18	0	1	0
chr16	2821102	2821102	C	A	exonic	PRSS21	.	stopgain	PRSS21:NM_001270452:exon5:c.C666A:p.C222X	.	415	1067	38	2	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	.	0.0018	0.00838658	0.0068	0.0004	0.0010	0	0.0234	0.0045	0.0055	0.0206	0.0058731	908	154602	rs139303479	0.0036	0.0037	0.0031	0.0042	0.0211	0.0036	0.0035	0.0203	0.0200	0.0002	0.0011	0.0007	2.519e-05	0.0209	0.0109	0.0018	0.0037	0.0211	0.0041	0.0041	0.0025	0.0057	0.0222	0.0038	0.0037	0.0188	0.0175	0.0003	0	0.0021	0.0009	0	0.0306	0.0068	0.0020	0.0033	0.0222	0.008	0.58626	D	0.006	0.70582	D	0.979	0.59044	D	0.762	0.56524	P	.	.	.	.	1	0.81001	D	3.345	0.91022	M	-1.71	0.83157	D	-3.12	0.63782	D	0.319	0.35938	0.526	0.90905	D	0.641	0.87438	D	9	0.023073196	0.00593	T	.	.	.	0.591	0.83691	.	.	0.905404214419	0.90446	0.6373043469950349	0.63664	0.105408080071	0.11918	0.337047219276	0.15996	T	0.721797	0.92143	D	-0.224013	0.17449	T	-0.0789608	0.64981	T	0.04023178286282	0.03733	T	.	.	.	0.5699691	0.71059	0.61235946	0.77445	0.5699691	0.71060	0.61235946	0.77446	-15.375	0.96670	D	.	.	0.962	0.88285	P	.	.	3.859172	0.55956	23.7	0.98635057207627197	0.43974	0.94296	0.60715	D	AEFDGBHCI	0.869293	0.78976	D	0.474615841107823	0.65613	4.844492	0.322565907156833	0.56869	3.850931	0.999999983955616	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	4.884000	0.62827	3.581000	0.39157	0.587000	0.30956	0.997000	0.40164	0.498000	0.25189	0.021000	0.11733	0.0:1.0:0.0:0.0	14.485	0.67191	518	0.74548	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs139303479	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1574.33	33	chr16	2821102	.	C	A	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=854;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.721;SOR=0.523	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr16	2930551	2930551	G	A	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon4:c.G467A:p.R156Q,FLYWCH1:NM_020912:exon4:c.G464A:p.R155Q,FLYWCH1:NM_032296:exon4:c.G464A:p.R155Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00863558154995	.	0.000399361	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs144924364	2.648e-05	3.489e-05	2.973e-05	2.315e-05	3.207e-05	1.954e-05	1.706e-05	2.172e-05	1.911e-05	0	3.207e-05	0	0	2.041e-05	0	3.046e-05	1.729e-05	1.275e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	8.822e-05	2.108e-05	1.526e-05	3.763e-05	2.575e-05	0	0	0	0	0	9.422e-05	0	8.822e-05	0	0	0.073	0.34800	T	0.166	0.30828	T	0.106	0.41422	B	0.013	0.27960	B	.	.	.	.	0.984977	0.24753	N	2.005	0.54552	M	.	.	.	-1.23	0.31170	N	0.352	0.41459	-1.0375	0.18078	T	0.068	0.27980	T	8	0.05940658	0.07137	T	0.008636	0.22829	T	0.075	0.21907	.	.	0.0401082797425	0.02173	0.22576258687009532	0.22491	.	.	0.489024221897	0.37303	T	0.063	0.32140	T	-0.0892842	0.38194	T	-0.366027	0.37354	T	0.117928065141697	0.14226	T	0.844815	0.52285	T	0.03316639	0.03482	0.05541207	0.09715	0.03316639	0.03482	0.05541207	0.09714	-8.286	0.63002	D	.	.	0.296	0.52817	B	.;.	.;.	3.191685	0.43364	21.7	0.99544141808193931	0.70711	0.87269	0.46757	D	AEFBI	0.222737	0.34719	N	-0.260727749539724	0.30676	1.712784	-0.236245126761309	0.30247	1.701467	8.74753189835801E-5	0.04703	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.42	1.45	0.21708	0.942000	0.28615	7.000000	0.57193	-0.123000	0.13640	0.084000	0.22438	1.000000	0.68203	0.551000	0.30197	0.2462:0.0:0.7538:0.0	5.792	0.17630	867	0.32089	Zinc finger, FLYWCH-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	718.33	36	chr16	2930551	.	G	A	718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=712;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.399;SOR=1.101	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1286	18	0	1	0
chr16	2940061	2940061	A	T	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon9:c.A2080T:p.T694S,FLYWCH1:NM_020912:exon9:c.A2077T:p.T693S,FLYWCH1:NM_032296:exon9:c.A2077T:p.T693S	.	437	1059	26	0	0	26	0.0121269	.	.	.	726563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0012	0.00838658	0.0093	0.0004	0.0025	0.0001	0	0.0028	0.0170	0.0508	0.0061513	951	154602	rs200567618	0.0039	0.0039	0.0026	0.0052	0.0410	0.0038	0.0038	0.0398	0.0394	0.0003	0.0013	0.0185	0.0001	1.876e-05	0.0151	0.0010	0.0055	0.0410	0.0028	0.0028	0.0021	0.0034	0.0404	0.0026	0.0025	0.0358	0.0340	0.0002	0	0.0016	0.0239	0.0002	0	0.0102	0.0014	0.0057	0.0404	0.084	0.32929	T	0.319	0.19246	T	0.105	0.36465	B	0.011	0.24394	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	.	.	.	-0.92	0.24676	N	0.186	0.21188	-1.0157	0.25110	T	0.028	0.11838	T	8	0.0030860603	0.00051	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.06949796289218495	0.06887	.	.	0.444318264723	0.31167	T	0.01465	0.12435	T	-0.594237	0.00158	T	-0.59637	0.13119	T	0.00309757687817122	0.00032	T	0.451355	0.12777	T	0.032496184	0.03285	0.030530464	0.01519	0.032496184	0.03284	0.030530464	0.01519	-3.083	0.11193	T	.	.	0.118	0.24226	B	.;.	.;.	-0.105926	0.03606	0.708	0.63187656537207515	0.07157	0.01263	0.04429	N	AEFBHCI	0.065080	0.12672	N	-1.28060460151924	0.03909	0.1754922	-1.39347297607137	0.03321	0.1546841	9.79584783668024E-6	0.01202	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	0.785	-0.71	0.10668	-0.189000	0.09625	1.438000	0.26503	-0.496000	0.05032	0.002000	0.15269	0.588000	0.25656	0.002000	0.04165	0.563:0.437:0.0:0.0	3.393	0.06870	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016580	0.010101	0.012228	0.006993	0.000000	0.017241	0.018293	0.045455	0.02632	751.33	33	chr16	2940061	.	A	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.713;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr16	2964928	2964928	G	C	exonic	KREMEN2	.	nonsynonymous SNV	KREMEN2:NM_001253725:exon2:c.G164C:p.G55A,KREMEN2:NM_001253726:exon2:c.G164C:p.G55A,KREMEN2:NM_024507:exon2:c.G164C:p.G55A,KREMEN2:NM_172229:exon2:c.G164C:p.G55A	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.114684296804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.894e-07	6.841e-07	1.371e-06	0	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.70582	D	0.998	0.73220	D	0.946	0.68276	D	0.000198	0.48115	D	0.000000	0.99983	0.49637	D	-0.21	0.04010	N	0.53	0.58897	T	-3.06	0.63090	D	0.3	0.39052	-0.6734	0.61674	T	0.177	0.52256	T	10	0.2995117	0.47503	T	0.114684	0.79362	D	0.186	0.46104	0.341	0.33302	0.826555733501	0.82491	0.6664750473124545	0.66585	1.7839077687	0.91422	0.63871973753	0.58382	T	0.171147	0.51916	T	-0.031704	0.47170	T	-0.283317	0.46464	T	0.968646883964539	0.68314	D	0.80112	0.44691	T	0.37726745	0.59117	0.3073878	0.56761	0.37726745	0.59118	0.3073878	0.56760	-9.455	0.73166	D	.	.	0.096	0.38836	B	.;.;.;.;.;.	.;.;.;.;.;.	4.584607	0.72457	25.8	0.99732622443000607	0.82904	0.51953	0.29017	D	AEFDBHCIJ	0.285166	0.39785	N	0.254953315185586	0.53883	3.555541	0.253377367886023	0.52841	3.456345	0.999999999989908	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.69	4.69	0.58546	2.607000	0.45964	7.241000	0.57901	0.583000	0.30283	0.998000	0.41325	1.000000	0.68203	0.808000	0.38083	0.0:0.0:1.0:0.0	15.111	0.72032	867	0.32089	Kringle|Kringle|Kringle|Kringle;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1803.33	36	chr16	2964928	.	G	C	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=807;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.48;SOR=0.443	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	18	0	1	0
chr16	2975631	2975631	G	A	exonic	PKMYT1	.	nonsynonymous SNV	PKMYT1:NM_001258450:exon4:c.C353T:p.T118M,PKMYT1:NM_001258451:exon4:c.C533T:p.T178M,PKMYT1:NM_004203:exon4:c.C560T:p.T187M,PKMYT1:NM_182687:exon4:c.C560T:p.T187M	.	.	.	.	.	.	.	.	.	.	.	2395851	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0239510017493	7.7e-05	.	0.0002	0.0001	0	0	0	0.0002	0	0.0007	0.0001488	23	154602	rs372008941	9.046e-05	9.029e-05	7.501e-05	0.0001	0.0008	7.77e-05	7.312e-05	0.0006	0.0006	5.975e-05	2.238e-05	0.0011	2.52e-05	1.951e-05	0	2.159e-05	0.0001	0.0008	5.913e-05	5.91e-05	3.853e-05	8.071e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.985e-05	7.236e-05	0	0	0.0006	0	0	0	1.47e-05	0	0.0006	0.253	0.48642	T	0.153	0.32144	T	0.841	0.46518	P	0.454	0.46241	P	0.000000	0.84330	N	0.051887	1	0.81001	D	-0.165	0.04321	N	2.13	0.19588	T	-2.49	0.54217	N	0.394	0.44090	-0.9683	0.37551	T	0.023	0.09696	T	10	0.12389496	0.23525	T	0.023951	0.46930	T	0.247	0.55478	.	.	0.341886373756	0.33793	0.5413095229209642	0.54055	0.0937441794456	0.10591	0.65276825428	0.60378	T	0.063398	0.32166	T	-0.341045	0.05316	T	-0.36687	0.37255	T	0.0637930780649185	0.07751	T	0.882012	0.65873	D	0.45682347	0.64473	0.31169885	0.57175	0.45682347	0.64474	0.31169885	0.57174	-2.413	0.07821	T	.	.	0.056	0.22318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.032649	0.59644	24.1	0.99699369795675441	0.80522	0.97647	0.76137	D	AEFBHCI	0.832371	0.75076	D	-0.102180521730957	0.37297	2.167945	0.0456539252620061	0.41862	2.522139	0.999999905378718	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	3.86	0.43689	3.009000	0.49239	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1542:0.0:0.8458:0.0	10.786	0.45608	851	0.35303	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	34	chr16	2975631	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.1;DP=766;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.154;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	18	0	1	0
chr16	3013922	3013922	C	G	exonic	CLDN9	.	nonsynonymous SNV	CLDN9:NM_020982:exon1:c.C560G:p.P187R	.	416	1105	0	1	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0766403176354	.	.	7.46e-05	0	0	0	0	0	0	0.0006	5.17e-05	8	154602	rs748261167	3.277e-05	3.283e-05	1.524e-05	5.052e-05	0.0006	2.525e-05	2.263e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0006	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.203	0.20154	T	0.215	0.26306	T	0.205	0.29827	B	0.134	0.33146	B	0.000001	0.84330	D	0.000000	0.913404	0.36472	D	1.645	0.42016	L	-1.65	0.82625	D	-2.57	0.55501	D	0.438	0.47672	-0.7136	0.59776	T	0.280	0.65189	T	10	0.16418204	0.30724	T	0.07664	0.72580	D	0.288	0.60691	0.341	0.33302	0.620522651735	0.61745	0.6165698925581137	0.61588	0.023896743837	0.02427	0.450939059258	0.32072	T	0.485474	0.81236	T	-0.253324	0.13694	T	-0.244175	0.50389	T	0.0962222341412744	0.11936	T	0.323368	0.06588	T	0.109961666	0.25994	0.14590435	0.34587	0.109961666	0.25994	0.14590435	0.34586	-3.819	0.21089	T	.	.	0.081	0.08272	B	.	.	2.856685	0.37735	20.6	0.94038628554478354	0.24158	0.70671	0.34687	D	AEFGBHCI	0.529953	0.55085	D	-0.598796499817019	0.18982	0.9898763	-0.461045977974291	0.23235	1.26612	0.999999998829032	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.42	3.47	0.38831	4.312000	0.58946	.	.	-0.172000	0.11096	0.954000	0.33273	1.000000	0.68203	0.144000	0.20092	0.0:0.9037:0.0:0.0963	10.419	0.43527	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1719.33	104	chr16	3013922	.	C	G	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=749;ExcessHet=0;FS=7.98;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.897;SOR=1.316	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1213	18	0	1	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029204	0.005051	0.035326	0.064327	0.000000	0.077586	0.006098	0.007576	0.07895	3453.77	38	chr16	3050484	.	A	G	3453.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.751;DP=807;ExcessHet=0;FS=1.357;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.767;SOR=0.838	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	1	1	0
chr16	3089978	3089978	G	A	exonic	ZSCAN10	.	stopgain	ZSCAN10:NM_001365273:exon4:c.C274T:p.Q92X,ZSCAN10:NM_001282415:exon5:c.C274T:p.Q92X,ZSCAN10:NM_001282416:exon5:c.C1045T:p.Q349X,ZSCAN10:NM_001365272:exon5:c.C910T:p.Q304X,ZSCAN10:NM_032805:exon6:c.C1456T:p.Q486X	.	433	1088	0	1	0	2	0.000918274	.	.	.	3494609	Otofacial_neurodevelopmental_syndrome	MONDO:MONDO:0975705,MedGen:C5935642,OMIM:620910	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs765722072	3.151e-05	3.352e-05	1.416e-05	4.927e-05	0.0005	2.388e-05	2.127e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.037035	0.24450	N	0.294386	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.101	0.10056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106258	0.64960	D	0.289	0.87641	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	7.822963	0.96896	36	0.99314064862530371	0.59129	0.48260	0.28167	N	AEFBCI	0.269753	0.38596	N	0.469175853036243	0.65301	4.805056	0.25621532278434	0.53002	3.471604	0.891697482974362	0.25866	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.91	2.9	0.32809	-0.187000	0.09652	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.6858:0.3142	11.919	0.52066	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	252.33	34	chr16	3089978	.	G	A	252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.036;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1182	18	0	1	0
chr16	3204661	3204661	C	T	exonic	OR1F1	.	stopgain	OR1F1:NM_012360:exon3:c.C415T:p.Q139X,OR1F1:NM_001370639:exon4:c.C445T:p.Q149X,OR1F1:NM_001370640:exon4:c.C445T:p.Q149X,OR1F1:NM_001370641:exon5:c.C415T:p.Q139X	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	0.0005	2.35e-06	1.7e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140327	0.18313	N	0.505358	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.007	0.00055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328657	0.85072	D	0.234316	0.84876	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.062184	0.96095	35	0.99011145602396422	0.50356	0.06209	0.12196	N	AEFBI	0.065562	0.12796	N	0.415109482029389	0.62251	4.438172	0.16546774982232	0.47966	3.019186	5.1474211486011E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.27	3.19	0.35720	-2.189000	0.01333	.	.	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.2922:0.6163:0.0:0.0915	6.000	0.18746	725	0.54935	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2837.33	260	chr16	3204661	.	C	T	2837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=2072;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.582;SOR=0.543	GT:AD:DP:GQ:PL	0/0:170,0:170:99:0,120,1800	18	0	1	0
chr16	3243257	3243257	C	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2230T:p.A744S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	YES	17587	not_provided|Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|MEFV-related_disorder|Inborn_genetic_diseases|Acute_febrile_neutrophilic_dermatosis|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.0149765821512	0.0013	0.00179712	0.0015	0.0004	0.0018	0	0.0008	0.0021	0.0011	0.0004	0.0015265	236	154602	rs61732874	0.0016	0.0016	0.0016	0.0016	0.0151	0.0016	0.0016	0.0125	0.0116	0.0007	0.0029	0.0132	0	0.0004	0.0151	0.0014	0.0026	0.0004	0.0017	0.0017	0.0018	0.0017	0.0041	0.0015	0.0015	0.0032	0.0030	0.0006	0	0.0041	0.0124	0	0.0003	0.0136	0.0017	0.0047	0	0.423	0.09746	T	0.623	0.07368	T	0.0	0.02946	B	0.001	0.04355	B	0.065246	0.21894	N	0.331114	1	0.81001	D	-1.595	0.00428	N	-0.31	0.68030	T	1.05	0.01488	N	0.194	0.70702	-0.9319	0.43859	T	0.026	0.11220	T	9	0.0056206584	0.00125	T	0.014977	0.35442	T	0.365	0.68495	.	.	0.497214377195	0.49355	0.1082556167298569	0.10754	0.103948646117	0.11761	0.248399183154	0.03601	T	0.291593	0.66434	T	-0.335292	0.05721	T	-0.258703	0.48953	T	0.00430496246277024	0.00046	T	0.537046	0.18930	T	0.102533445	0.24229	0.07548105	0.16620	0.0862295	0.20033	0.062804714	0.12343	-0.836	0.01229	T	.	.	0.065	0.02091	B	.;.;.	.;.;.	0.010176	0.04355	1.114	0.21013980907273649	0.00782	0.48850	0.28300	N	AEFDBHI	0.196112	0.32311	N	-2.04489251638773	0.00169	0.007246577	-1.86378373459854	0.00576	0.02556432	0.9996164345938	0.40981	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.6	-3.05	0.05069	0.648000	0.24515	.	.	-1.767000	0.00669	0.893000	0.31264	0.006000	0.19429	0.002000	0.04165	0.4422:0.2087:0.0:0.3491	4.186	0.09859	784	0.47045	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.005051	0.010870	0.032164	0.000000	0.025862	0.003049	0.007576	0.02632	2496.33	38	chr16	3243257	.	C	A	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=835;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=3.19;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr16	3300229	3300229	A	C	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.T386G:p.F129C	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.0272114114362	.	0.00139776	0.0012	9.636e-05	0.0002	0	0	0	0.0011	0.0088	0.0010155	157	154602	rs201630933	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	2.987e-05	0	0	0	0	0	8.993e-07	0.0004	0.0083	0.0003	0.0003	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	2.406e-05	0	0	0	0	0	0	0	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000563	0.43250	U	0.000000	0.928996	0.36912	D	3.995	0.96723	H	-0.05	0.63403	T	-7.26	0.94377	D	0.83	0.82559	0.169	0.85375	D	0.482	0.80220	T	10	0.078799814	0.12602	T	0.027211	0.50045	D	0.677	0.88109	0.91	0.98190	0.52463718601	0.52109	0.7092695697347696	0.70868	0.466260999691	0.46036	0.758674144745	0.75733	T	0.846586	0.96469	D	0.0238129	0.54895	T	0.267685	0.86457	D	0.360369633090314	0.27424	T	0.549445	0.18903	T	0.7645939	0.81725	0.6622275	0.80205	0.7645939	0.81727	0.6622275	0.80206	-9.28	0.69481	D	.	.	0.956	0.87601	P	.	.	4.701075	0.75423	26.3	0.98946686612834656	0.49055	0.96164	0.67826	D	AEFBI	0.477575	0.52050	N	0.732730635406901	0.81779	7.602528	0.635312387228641	0.77523	6.695462	0.999326969271341	0.39149	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.59	4.59	0.56297	4.708000	0.61548	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	10.364	0.43195	774	0.48577	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3681.33	282	chr16	3300229	.	A	C	3681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.793;DP=922;ExcessHet=0;FS=4.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.618;SOR=0.806	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr16	3356185	3356185	T	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.T245C:p.L82P	.	425	1079	17	1	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.00996368830233	0.0003	0.000998403	0.0008	0	8.637e-05	0	0.0002	0.0004	0.0022	0.0039	0.0006404	99	154602	rs149625259	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0044	0.0042	5.974e-05	0.0002	0.0005	0	1.872e-05	0.0055	0.0001	0.0007	0.0047	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.216e-05	0	0.0003	0.0003	0	0	0.0034	0.0002	0.0005	0.0058	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.006932	0.31707	N	0.000000	0.999996	0.58761	D	3.935	0.96350	H	7.45	0.00391	T	-6.72	0.92561	D	0.918	0.92084	-1.1106	0.03019	T	0.007	0.02244	T	10	0.05266249	0.05334	T	0.009964	0.25923	T	0.362	0.68230	.	.	0.744465519958	0.74216	0.6316848835877995	0.63102	0.47767146227	0.46874	0.658551573753	0.61202	T	0.014473	0.12316	T	-0.224347	0.17404	T	-0.0946311	0.63810	T	0.230201423168182	0.21961	T	0.775622	0.40735	T	0.9833335	0.99353	0.95905834	0.98921	0.9833335	0.99353	0.95905834	0.98921	-11.41	0.81858	D	.	.	0.531	0.65959	A	.	.	4.165723	0.62598	24.5	0.99802440215782584	0.88728	0.92773	0.56510	D	AEFDBHCI	0.820796	0.74150	D	0.724313960735914	0.81226	7.472882	0.562388526199704	0.72263	5.782371	0.0830305240005124	0.15916	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	4.5	0.54382	5.995000	0.70302	.	.	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	11.802	0.51403	659	0.61982	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2125.33	128	chr16	3356185	.	T	C	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.006;DP=2169;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.08;SOR=0.694	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr16	3356400	3356400	G	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.G460C:p.G154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00887163989944	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs763177230	5.474e-06	5.472e-06	5.447e-06	5.502e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.229	0.25210	T	0.336	0.33356	B	0.197	0.36707	B	0.019329	0.27282	N	0.174779	0.926297	0.27172	N	1.815	0.47718	L	1.18	0.37746	T	-1.59	0.38345	N	0.365	0.40665	-1.0476	0.15073	T	0.055	0.23300	T	10	0.115225434	0.21702	T	0.008872	0.23390	T	0.124	0.34239	0.376	0.38994	0.482137172311	0.47843	0.405439167515628	0.40459	0.3514486837	0.36983	0.429358363152	0.29120	T	0.066601	0.32988	T	-0.0984841	0.36677	T	-0.363756	0.37617	T	0.242460576824279	0.22532	T	0.360464	0.08297	T	0.39266008	0.60220	0.39324412	0.64048	0.39266008	0.60221	0.39324412	0.64048	-7.4	0.56905	T	.	.	0.614	0.69436	P	.	.	2.456880	0.31646	18.80	0.99549471051545246	0.71023	0.21731	0.21504	N	AEFDBHCI	0.094946	0.19191	N	-0.450333179000725	0.23728	1.276291	-0.405157441121751	0.24844	1.36285	0.00431001422764292	0.10495	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.63	2.58	0.30011	-0.100000	0.10959	.	.	0.575000	0.29119	0.000000	0.06391	0.750000	0.26544	0.958000	0.51230	0.1044:0.0:0.5276:0.3679	4.914	0.13191	659	0.61982	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2217.33	228	chr16	3356400	.	G	C	2217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=2205;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.717;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,0:138:99:.:.:0,120,1800:.	18	0	1	0
chr16	3390500	3390500	C	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001324343:exon3:c.G151T:p.A51S,ZSCAN32:NM_001284527:exon4:c.G550T:p.A184S	.	424	1069	26	3	0	32	0.0147465	.	.	.	2810985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	.	0.00399361	0.0079	0	0.0069	0	0	0.0079	0.0195	0.0091	0.0018823	291	154602	rs117689911	0.0074	0.0071	0.0072	0.0076	0.0140	0.0073	0.0072	0.0112	0.0102	0.0009	0.0015	0.0067	2.798e-05	0.0154	0.0140	0.0076	0.0064	0.0094	0.0063	0.0063	0.0058	0.0067	0.0087	0.0059	0.0058	0.0082	0.0079	0.0010	0.0022	0.0031	0.0058	0	0.0190	0.0034	0.0087	0.0038	0.0079	0.685	0.04366	T	0.728	0.05786	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-0.03	0.07444	N	0.062	0.03392	-0.9627	0.38664	T	0.007	0.02244	T	8	0.0033713877	0.00059	T	.	.	.	0.027	0.05988	.	.	0.119812018005	0.11559	0.04997811369492747	0.04940	.	.	0.279437214136	0.07413	T	0.002843	0.02237	T	-0.726159	0.00025	T	-0.806458	0.01746	T	0.00580775176423805	0.00063	T	0.489451	0.15024	T	0.050505616	0.09134	0.0647205	0.13012	0.050505616	0.09134	0.0647205	0.13012	-3.23	0.12851	T	.	.	0.126	0.26700	B	.;.;.;.	.;.;.;.	1.118022	0.15034	11.54	0.78993910658157351	0.12543	0.08155	0.14119	N	AEFBI	0.058180	0.10895	N	-0.797187233141029	0.13383	0.6589055	-0.900159892576677	0.12090	0.6199057	0.999553191052343	0.40362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.61	1.51	0.22094	0.097000	0.15007	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.0:0.6693:0.2063:0.1245	5.308	0.15122	759	0.50631	.;.;.;.	RP11-461A8.4	Nerve_Tibial	TRAP1	Nerve_Tibial	rs117689911	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	749.33	40	chr16	3390500	.	C	A	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.098;DP=788;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-2.695;SOR=0.543	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr16	3397443	3397443	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284527:exon2:c.C115T:p.R39C,ZSCAN32:NM_001324346:exon2:c.C115T:p.R39C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00106205949383	.	.	5.899e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs746789548	4.861e-05	4.925e-05	4.655e-05	5.073e-05	0.0019	3.895e-05	3.565e-05	0.0011	0.0008	3.164e-05	0	0	0.0001	0	0.0019	3.613e-05	0.0001	8.832e-05	1.971e-05	1.97e-05	2.569e-05	1.344e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.057	0.37966	T	0.144	0.56192	T	.	.	.	.	.	.	0.114616	0.19268	U	0.263029	0.998146	0.29410	N	1.035	0.25616	L	3.5	0.05014	T	-2.85	0.60029	D	0.306	0.34552	-1.0915	0.05286	T	0.040	0.17106	T	9	0.11720654	0.22130	T	0.001062	0.01215	T	0.129	0.35316	.	.	0.181679512989	0.17746	0.24547346785742782	0.24461	.	.	0.286849021912	0.08466	T	0.091419	0.38791	T	-0.352007	0.04602	T	-0.474111	0.25074	T	0.11786545495119	0.14219	T	0.472753	0.14054	T	0.16597527	0.36904	0.123385526	0.29752	0.16597527	0.36904	0.123385526	0.29751	-6.715	0.51923	T	.	.	0.388	0.58884	A	.;.;.;.;.;.	.;.;.;.;.;.	2.302247	0.29462	18.13	0.73401606244808448	0.10315	0.05276	0.11117	N	AEFDBI	0.054382	0.09884	N	-0.400982872293146	0.25434	1.38069	-0.503361905574627	0.22061	1.196441	0.998564196202223	0.37206	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.44	1.36	0.21139	0.565000	0.23281	.	.	0.676000	0.76740	0.110000	0.22992	0.000000	0.08366	0.915000	0.45038	0.3104:0.0:0.6896:0.0	6.722	0.22523	735	0.53711	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	45	chr16	3397443	.	G	A	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=827;ExcessHet=0;FS=4.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-0.254;SOR=0.478	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	3484831	3484831	C	G	exonic	NAA60	.	nonsynonymous SNV	NAA60:NM_001317096:exon5:c.C478G:p.H160D,NAA60:NM_001317097:exon5:c.C407G:p.A136G,NAA60:NM_001317098:exon5:c.C407G:p.A136G	.	415	1056	47	4	0	55	0.0253807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	0.0061	0.00519169	0.0140	0.0024	0.0087	0	0.0227	0.0175	0.0087	0.0133	0.0058537	905	154602	rs17793994	0.0087	0.0087	0.0085	0.0090	0.0111	0.0086	0.0086	0.0105	0.0103	0.0014	0.0038	0.0118	5.464e-05	0.0095	0.0103	0.0091	0.0083	0.0111	0.0072	0.0072	0.0067	0.0077	0.0135	0.0068	0.0067	0.0108	0.0099	0.0017	0.0143	0.0035	0.0084	0.0006	0.0119	0	0.0106	0.0071	0.0135	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-2.4	0.52776	N	0.441	0.47949	-0.7027	0.60309	T	0.178	0.52381	T	5	0.0051259995	0.00111	T	.	.	.	0.232	0.53354	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.481957	0.00720	T	-0.454687	0.27180	T	0.0682118217340819	0.08399	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-3.817	0.21059	T	.	.	0.156	0.34602	B	.	.	1.187958	0.15789	12.10	0.99286555919033248	0.58113	0.91750	0.54184	D	AEFBCI	0.375027	0.45971	N	0.254229443074431	0.53848	3.552079	0.312216166203192	0.56258	3.78877	0.866369319914896	0.25327	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	3.79	0.42757	3.250000	0.51146	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1447:0.6403:0.1399:0.0751	5.546	0.16353	630	0.65016	.	DNASE1	Brain_Cerebellum	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010142	0.005051	0.012329	0.005882	0.050000	0.000000	0.018519	0.011364	0.05263	2372.83	38	chr16	3484831	.	C	G	2372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.718;DP=893;ExcessHet=0.119;FS=1.602;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.217;SOR=0.818	GT:AD:DP:GQ:PL	0/1:71,47:118:99:1015,0,1841	17	0	2	0
chr16	3564573	3564573	C	T	exonic	NLRC3	.	nonsynonymous SNV	NLRC3:NM_178844:exon5:c.G364A:p.V122I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00688796518368	0.0002	.	2.688e-05	0	0	0	0	3.303e-05	0	6.187e-05	2.59e-05	4	154602	rs373474132	8.224e-06	8.209e-06	8.182e-06	8.266e-06	2.321e-05	4.39e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.198e-06	3.316e-05	2.321e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.001881	0.37789	N	0.232405	1	0.08975	N	.	.	.	-0.19	0.65931	T	0.59	0.02558	N	0.047	0.01911	-0.9833	0.34234	T	0.128	0.43524	T	9	0.059416324	0.07140	T	0.006888	0.18233	T	0.044	0.11924	.	.	0.186928172975	0.18263	0.0956283493049332	0.09494	.	.	0.294594168663	0.09598	T	0.006518	0.05951	T	-0.208766	0.19553	T	-0.437025	0.29142	T	0.07446006145665	0.09263	T	0.654634	0.26482	T	0.020128727	0.00561	0.033141308	0.02162	0.020128727	0.00560	0.033141308	0.02161	-3.351	0.14404	T	.	.	0.066	0.03372	B	.;.	.;.	-0.240232	0.02892	0.414	0.18834522702443623	0.00609	0.06139	0.12118	N	AEFDGBI	0.040228	0.05953	N	-1.0030567159346	0.08540	0.4008028	-0.968192739070007	0.10504	0.5294671	0.00647223353686009	0.11227	0.115753	0.02995	0	0.12628	0.03447	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	4.73	2.44	0.28875	1.369000	0.33832	.	.	-0.185000	0.09859	0.857000	0.30561	0.035000	0.21413	0.003000	0.05239	0.0:0.0999:0.3587:0.5414	5.073	0.13952	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	848.33	46	chr16	3564573	.	C	T	848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=768;ExcessHet=0;FS=3.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.76;SOR=0.763	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr16	3582659	3582659	A	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon15:c.T5188C:p.S1730P	Fanconi anemia, complementation group P, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	466652	Fanconi_anemia|not_provided|Fanconi_anemia_complementation_group_P	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.061956147372	0.0002	.	5.875e-05	0	0	0	0	4.575e-05	0	0.0002	5.17e-05	8	154602	rs199838670	3.56e-05	3.557e-05	3.27e-05	3.852e-05	0.0003	2.764e-05	2.503e-05	8.886e-05	7.054e-05	0	4.472e-05	0	0	0	0.0003	2.788e-05	6.624e-05	0.0002	4.603e-05	4.598e-05	3.857e-05	5.385e-05	0.0002	2.111e-05	1.528e-05	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	4.412e-05	0.0005	0	0.009	0.57480	D	0.027	0.55341	D	0.996	0.68779	D	0.853	0.60815	P	0.066261	0.21823	N	0.471664	0.975019	0.25458	N	1.385	0.34509	L	4.97	0.01356	T	-3.07	0.63207	D	0.356	0.39760	-0.9947	0.31379	T	0.012	0.04558	T	10	0.31724864	0.49137	T	0.061956	0.68497	D	0.144	0.38394	.	.	0.545045102275	0.54158	0.25370674246097147	0.25284	0.355894172797	0.37344	0.386134147644	0.23124	T	0.295765	0.66842	T	-0.280291	0.10637	T	-0.366096	0.37346	T	0.401460787524285	0.28997	T	0.442656	0.12286	T	0.393662	0.60291	0.42422426	0.66268	0.3775788	0.59141	0.36017978	0.61464	-4.13	0.25730	T	.	.	0.195	0.41648	B	.	.	4.112388	0.61406	24.3	0.99839048937379082	0.91972	0.98969	0.89329	D	AEFDBIJ	0.701656	0.65828	D	0.437187936238499	0.63479	4.582557	0.413241164870783	0.62389	4.453455	0.98846482491528	0.31525	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.699875	0.68795	0	.	.	5.04	5.04	0.67293	5.926000	0.69791	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	1.0:0.0:0.0:0.0	12.514	0.55366	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	632.33	35	chr16	3582659	.	A	G	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.244;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	18	0	1	0
chr16	3583210	3583210	C	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040T:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	985339	Fanconi_anemia_complementation_group_P|Fanconi_anemia	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.076486118063	.	.	0.0001	0	0	0	0	4.495e-05	0	0.0008	0.00011	17	154602	rs199592185	6.977e-05	6.977e-05	3.267e-05	0.0001	0.0017	5.846e-05	5.457e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.888e-05	0.0001	0.0007	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0012	4.954e-05	3.961e-05	0.0005	0.0004	4.81e-05	0	6.54e-05	0	0	0	0	4.411e-05	0.0005	0.0012	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.017328382	0.00369	T	0.076486	0.72544	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921265212138792	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.531422	0.00377	T	-0.636965	0.09891	T	0.0362832247252377	0.03030	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.084879	0.04899	1.482	0.91676041476106818	0.20967	0.21132	0.21293	N	AEFDBI	0.094389	0.19085	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1721.33	41	chr16	3583210	.	C	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.275;DP=757;ExcessHet=0;FS=3.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.106;SOR=1.006	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	18	0	1	0
chr16	3608480	3608480	G	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon2:c.C485T:p.T162M	Fanconi anemia, complementation group P, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	466442	Fanconi_anemia_complementation_group_P|Fanconi_anemia|not_specified	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0594691234776	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs140876043	6.43e-05	6.43e-05	6.398e-05	6.463e-05	0.0008	5.361e-05	4.976e-05	0.0006	0.0005	2.987e-05	4.472e-05	0	0.0008	1.872e-05	0.0005	4.137e-05	4.967e-05	5.797e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.886	0.62898	P	0.047312	0.23356	N	0.310015	0.972	0.25635	N	1.795	0.47270	L	5.09	0.01238	T	-1.8	0.42384	N	0.262	0.29659	-0.9572	0.39699	T	0.010	0.03811	T	10	0.25471163	0.42854	T	0.059469	0.67676	D	0.249	0.55752	.	.	0.605980667623	0.60282	0.23273152902852814	0.23188	0.142500541401	0.16072	0.337102174759	0.16003	T	0.138837	0.47253	T	-0.329837	0.06124	T	-0.50891	0.21428	T	0.362279742956161	0.27498	T	0.588241	0.21547	T	0.060754303	0.12503	0.15236282	0.35850	0.060754303	0.12503	0.15236282	0.35849	-5.196	0.38901	T	.	.	0.098	0.16319	B	.	.	4.016430	0.59292	24.1	0.99620461283477146	0.75413	0.91209	0.53074	D	AEFBCI	0.450459	0.50484	N	0.541751612560436	0.69582	5.377372	0.570089752863346	0.72806	5.868176	0.999999988807777	0.74766	0.615465	0.37627	0	0.623108	0.53289	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.53	5.53	0.82530	5.463000	0.66445	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	15.316	0.73789	588	0.69043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1279.33	36	chr16	3608480	.	G	A	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=772;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.461;SOR=1.084	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr16	3608702	3608704	CTT	-	exonic	SLX4	.	nonframeshift deletion	SLX4:NM_032444:exon2:c.261_263del:p.R87del	Fanconi anemia, complementation group P, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	1157735	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0005	0	0	0	0	1.498e-05	0.0033	0.0036	0.0004398	68	154602	rs536289991	0.0002	0.0002	0.0002	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0	5.396e-05	0.0003	0.0030	0.0001	0.0001	7.709e-05	0.0002	0.0037	8.66e-05	7.252e-05	0.0024	0.0020	0	0	0	0	0	0	0	2.94e-05	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3126.29	188	chr16	3608701	.	GCTT	G	3126.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=851;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0;QD=16.63;ReadPosRankSum=0.034;SOR=0.62	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D,DNASE1:NM_001351825:exon3:c.G105C:p.E35D	.	409	1101	11	1	0	13	0.00586907	.	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.008152	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	1359.33	37	chr16	3655478	.	G	C	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.831;DP=790;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.349;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	18	0	1	0
chr16	3666024	3666024	A	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon11:c.T1171A:p.Y391N,TRAP1:NM_016292:exon12:c.T1330A:p.Y444N	.	428	1089	5	0	0	5	0.00229043	.	.	.	550041	TRAP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.642	0.0998326846705	0.0066	0.00199681	0.0047	0.0022	0.0020	0	0.0009	0.0074	0.0011	0.0012	0.0048835	755	154602	rs61756351	0.0075	0.0075	0.0078	0.0071	0.0090	0.0074	0.0073	0.0089	0.0088	0.0015	0.0024	0.0042	0	0.0021	0.0005	0.0090	0.0071	0.0011	0.0047	0.0047	0.0050	0.0043	0.0081	0.0044	0.0043	0.0076	0.0074	0.0017	0	0.0028	0.0040	0	0.0017	0	0.0081	0.0052	0.0012	0.004	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.985	0.76457	D	0.000051	0.53742	D	0.130829	1	0.81001	D	3.135	0.88152	M	2.9	0.10101	T	-7.84	0.96032	D	0.958	0.97207	-0.9271	0.44559	T	0.084	0.32786	T	10	0.022699267	0.00574	T	0.099833	0.77174	D	0.642	0.86384	.	.	0.492200611407	0.48855	0.8898202667928607	0.88952	0.112827264345	0.12733	0.760841012001	0.76054	T	0.396374	0.75502	T	-0.0845655	0.38970	T	0.116139	0.77977	D	0.0632158253167541	0.07664	T	0.984202	0.96411	D	0.96408725	0.97689	0.9319283	0.97227	0.96408725	0.97689	0.9319283	0.97227	-12.254	0.86066	D	0.5153874321856869	0.58849	0.473	0.72070	A	.;.;.	.;.;.	4.347056	0.66733	25.0	0.99168518606783984	0.54326	0.99624	0.98098	D	AEFBI	0.921353	0.89470	D	0.872593854108381	0.90354	10.36628	0.810796392552748	0.90534	10.45128	0.999857045511393	0.44174	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.672000	0.90914	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	1.0:0.0:0.0:0.0	15.291	0.73567	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	981.33	95	chr16	3666024	.	A	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=719;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.638;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	18	0	1	0
chr16	3729328	3729328	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G5605A:p.A1869T,CREBBP:NM_004380:exon31:c.G5719A:p.A1907T	Rubinstein-Taybi syndrome 1, Autosomal dominant	2	1495	22	3	0	28	0.00927767	.	.	.	100956	not_provided|Rubinstein-Taybi_syndrome|not_specified|Inborn_genetic_diseases|CREBBP-related_disorder|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations	MedGen:C3661900|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.504	.	0.0012	0.000399361	0.0037	0.0004	0.0047	0	0.0016	0.0041	0.0106	0.0043	0.001313	203	154602	rs199990883	0.0018	0.0017	0.0017	0.0018	0.0095	0.0017	0.0017	0.0075	0.0068	0.0006	0.0011	0.0009	0	0.0002	0.0095	0.0018	0.0022	0.0029	0.0012	0.0012	0.0013	0.0011	0.0019	0.0011	0.0010	0.0016	0.0015	0.0005	0	0.0012	0.0012	0	0	0.0068	0.0018	0.0029	0.0019	0.514	0.07401	T	0.611	0.07666	T	0.0	0.02946	B	0.0	0.01387	B	0.201395	0.16591	N	0.572541	0.999999	0.08975	N	-0.46	0.02758	N	-1.68	0.82897	D	-0.63	0.20576	N	0.088	0.08925	-0.9290	0.44284	T	0.237	0.60463	T	10	0.009790987	0.00220	T	.	.	.	0.504	0.78600	.	.	0.968663058818	0.96832	0.041331074589899285	0.04078	1.29775370337	0.82942	0.295815706253	0.09779	T	0.387379	0.74831	T	-0.234778	0.16020	T	-0.113697	0.62317	T	0.000868365785217139	0.00008	T	0.705629	0.31713	T	0.033020295	0.03438	0.040099565	0.04256	0.046425015	0.07767	0.039310195	0.03994	-3.319	0.13984	T	0.08630392560766574	0.04955	0.074	0.05188	B	.;.	.;.	0.738444	0.11078	7.728	0.74787087369378624	0.10827	0.06919	0.12945	N	AEFDBCI	0.039201	0.05659	N	-1.06510089072073	0.07294	0.3384261	-1.00519298110135	0.09671	0.4824827	5.08995672654569E-4	0.07176	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.16	-1.17	0.09152	0.353000	0.19868	.	.	-0.177000	0.10537	0.076000	0.22236	0.000000	0.08366	0.756000	0.36000	0.0:0.2676:0.41:0.3224	5.813	0.17738	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010132	0.000000	0.008152	0.008824	0.000000	0.008621	0.018750	0.007576	0.05263	4727.81	42	chr16	3729328	.	C	T	4727.81	.	AC=2;AF=0.053;AN=38;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.83;SOR=2.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1342	18	1	0	0
chr16	3736720	3736720	T	G	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon26:c.A4376C:p.K1459T,CREBBP:NM_004380:exon27:c.A4490C:p.K1497T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2223546	Inborn_genetic_diseases|Menke-Hennekam_syndrome_1|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.852	0.402387205441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0048	0.0006	0.0005	0.0015	0.0005	0.0005	0.0011	0.0010	0.0009	0.0004	0.0014	0.0015	0.0018	0.0002	0.0005	0.0011	8.218e-05	3.322e-05	8.609e-05	3.901e-05	2.716e-05	0.0005	1.271e-05	8.06e-06	7.985e-05	3.25e-05	0	0	0	0	0.0002	9.513e-05	0	1.477e-05	0	0.0005	0.018	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	-3.31	0.93835	D	-5.89	0.88767	D	0.774	0.79310	0.936	0.96186	D	0.881	0.96055	D	10	0.8244804	0.81634	D	0.402387	0.93425	D	0.852	0.95433	0.502	0.59460	0.88102873976	0.87986	0.8031326376739203	0.80267	1.33416477849	0.83706	0.81824016571	0.84758	D	0.941671	0.99090	D	0.293921	0.82476	D	0.184421	0.82251	D	0.988415530172368	0.78748	D	0.99514	0.98349	D	0.6487428	0.75297	0.48649183	0.70280	0.6487428	0.75298	0.48649183	0.70281	-13.189	0.90181	D	0.765752437049642	0.84716	0.996	0.95940	P	.;.;.	.;.;.	4.537874	0.71295	25.7	0.9969757526764419	0.80385	0.98887	0.88185	D	AEFDBI	0.896874	0.83841	D	0.787441166634837	0.85314	8.539081	0.750870866651438	0.86223	8.820769	0.999999999620899	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	14.631	0.68256	654	0.62520	CBP/p300-type histone acetyltransferase domain;.;CBP/p300-type histone acetyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	82.33	33	chr16	3736720	.	T	G	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.086;DP=708;ExcessHet=0;FS=63.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.16;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1252:.	18	0	1	0
chr16	3736725	3736725	C	G	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon26:c.G4371C:p.K1457N,CREBBP:NM_004380:exon27:c.G4485C:p.K1495N	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2388756	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.750	0.348746700932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0014	0.0001	0.0001	0.0002	9.3e-05	8.795e-05	0.0001	9.371e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0	7.603e-05	0.0003	1.164e-05	0	6.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.028	0.46513	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	-3.3	0.93787	D	-4.91	0.81595	D	0.68	0.88356	0.757	0.93877	D	0.865	0.95496	D	10	0.65886843	0.70035	D	0.348747	0.92212	D	0.750	0.91413	0.584	0.71118	0.935661721839	0.93499	0.9058734370874284	0.90560	1.31223328857	0.83247	0.877997159958	0.93689	D	0.936981	0.98979	D	0.132857	0.67639	D	-0.046937	0.67232	D	0.99296098947525	0.83594	D	0.979202	0.92760	D	0.5678694	0.70943	0.43889403	0.67259	0.5678694	0.70945	0.43889403	0.67260	-12.049	0.85113	D	0.6938746881198967	0.77197	0.999	0.98765	P	.;.;.	.;.;.	3.168536	0.42956	21.6	0.99094066451566232	0.52296	0.88851	0.48981	D	AEFDBI	0.323100	0.42539	N	0.111265621051855	0.46987	2.930917	-0.00330821848894216	0.39566	2.347903	0.928342889356981	0.26925	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	0.243	0.14763	0.034000	0.13663	.	.	-0.181000	0.10308	0.878000	0.30948	0.996000	0.32793	0.937000	0.47636	0.0:0.5973:0.0:0.4027	11.955	0.52263	654	0.62520	CBP/p300-type histone acetyltransferase domain;.;CBP/p300-type histone acetyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	33	chr16	3736725	.	C	G	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.416;DP=706;ExcessHet=0;FS=83.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=0.361;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1252:.	18	0	1	0
chr16	3770661	3770661	G	A	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon13:c.C2675T:p.P892L,CREBBP:NM_004380:exon14:c.C2789T:p.P930L	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0273671029145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25873	T	0.101	0.39040	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	-1.82	0.84047	D	-4.4	0.79482	D	0.709	0.71232	0.274	0.87139	D	0.673	0.88673	D	10	0.6226363	0.68065	D	0.027367	0.50187	D	0.444	0.74657	0.282	0.23801	0.799681602365	0.79781	0.20518052270054501	0.20435	0.0908813437941	0.10259	0.743765771389	0.73527	T	0.754536	0.93301	D	0.119654	0.66337	D	-0.0659016	0.65917	T	0.973892450332642	0.70283	D	0.812519	0.48098	T	0.17804207	0.38803	0.25774276	0.51496	0.17804207	0.38803	0.25774276	0.51495	-5.588	0.44048	T	0.28389580185625274	0.37961	0.117	0.38605	B	.;.;.	.;.;.	4.564680	0.71961	25.8	0.98710232539774889	0.45040	0.99343	0.94772	D	AEFDBI	0.884296	0.81386	D	0.720833382527548	0.80996	7.420364	0.742037008230753	0.85560	8.61741	0.999999999997661	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	8.934000	0.92434	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	20.181	0.98202	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1352.33	34	chr16	3770661	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=711;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.207;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	18	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I,CREBBP:NM_004380:exon7:c.C1651A:p.L551I	Rubinstein-Taybi syndrome 1, Autosomal dominant	1	1445	71	5	0	81	0.0272635	.	.	YES	100926	Rubinstein-Taybi_syndrome|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033736	0.010101	0.029891	0.058480	0.050000	0.060345	0.039634	0.022727	0.02632	2109.33	35	chr16	3781229	.	G	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.157;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.718;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	18	0	1	0
chr16	3983296	3983296	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon7:c.G2455A:p.A819T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.117482942069	.	.	4.604e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs764068928	2.342e-05	2.463e-05	2.945e-05	1.725e-05	5.007e-05	1.671e-05	1.47e-05	1.789e-05	1.54e-05	0	0	0	0	2.008e-05	0	2.581e-05	0	5.007e-05	6.565e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.112	0.28900	T	0.495	0.11371	T	0.004	0.12183	B	0.002	0.06944	B	0.002271	0.36887	N	0.299524	0.957708	0.38037	D	1.445	0.36358	L	-1.82	0.84047	D	-1.1	0.28497	N	0.126	0.11912	-0.5985	0.64879	T	0.358	0.72045	T	10	0.18393558	0.33744	T	0.117483	0.79727	D	0.241	0.54641	0.402	0.43245	0.646477510483	0.64355	0.41815367444387674	0.41731	0.408351417736	0.41678	0.335406631231	0.15750	T	0.258	0.62955	T	-0.152637	0.27900	T	-0.258712	0.48953	T	0.0957351252436638	0.11881	T	0.789321	0.42944	T	0.06302174	0.13225	0.09091528	0.21348	0.06302174	0.13224	0.09091528	0.21347	-4.901	0.35746	T	.	.	0.086	0.10883	B	.	.	1.941755	0.24664	16.48	0.96033942625046875	0.28512	0.46304	0.27730	N	ALL	0.187684	0.31498	N	-0.479484094281993	0.22754	1.217205	-0.355062701408912	0.26352	1.45505	0.99999999999953	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.459711	0.06710	0	0.629945	0.49285	0	.	.	5.94	4.98	0.65679	2.519000	0.45206	.	.	0.585000	0.30472	0.963000	0.33788	0.975000	0.29991	0.011000	0.09372	0.0:0.8029:0.1285:0.0685	10.898	0.46243	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2018.33	40	chr16	3983296	.	C	T	2018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=1038;ExcessHet=0;FS=3.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.094;SOR=1.003	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1323	18	0	1	0
chr16	4335177	4335177	C	T	exonic	GLIS2	.	stopgain	GLIS2:NM_032575:exon5:c.C640T:p.R214X,GLIS2:NM_001318918:exon6:c.C640T:p.R214X	Nephronophthisis 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000005	0.62929	D	0.060935	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.878	0.87699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.514664	0.99019	41	0.99693782727575053	0.80112	0.81773	0.41110	D	AEFDBHCI	0.216329	0.34159	N	0.799553848743618	0.86078	8.771382	0.656931498110089	0.79127	7.017347	0.999166896435725	0.38622	0.706548	0.73137	0	0.550933	0.16991	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	2.026000	0.40689	4.840000	0.45276	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.551000	0.30197	0.1532:0.8468:0.0:0.0	13.880	0.63177	793	0.45818	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2146.33	33	chr16	4335177	.	C	T	2146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.563;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	18	0	1	0
chr16	4343273	4343273	T	G	exonic	CORO7-PAM16;PAM16	.	nonsynonymous SNV	PAM16:NM_016069:exon2:c.A22C:p.I8L,CORO7-PAM16:NM_001201479:exon28:c.A2791C:p.I931L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0129119065231	.	.	9.634e-06	0	0	0	0	1.745e-05	0	0	6.5e-06	1	154602	rs770706543	5.48e-06	5.472e-06	1.363e-06	9.64e-06	0.0005	2.36e-06	1.7e-06	0.0001	7.552e-05	0	0	0	0	0	0.0005	2.699e-06	3.315e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.17	0.40586	T	0.857	0.47240	P	0.498	0.47596	P	.	.	.	.	0.790607	0.58761	D	1.075	0.27130	L	0.8	0.48769	T	-1.63	0.39119	N	0.618	0.63374	-0.8427	0.52466	T	0.146	0.46985	T	9	0.40547198	0.55862	T	0.012912	0.31889	T	0.139	0.37390	0.554	0.67133	0.458644561121	0.45486	0.8805424867673441	0.88022	0.173007313036	0.19485	0.862156748772	0.91429	D	0.060694	0.31455	T	0.0543559	0.58902	T	-0.159698	0.58380	T	0.453389067710843	0.30922	T	.	.	.	0.41120675	0.61500	0.34473303	0.60166	0.41120675	0.61501	0.34473303	0.60165	-1.803	0.02518	T	.	.	0.270	0.56091	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.658296	0.74329	26.1	0.98749018256952803	0.45633	0.96942	0.71786	D	AEFDBI	0.760194	0.69829	D	0.381788012237126	0.60435	4.232406	0.469378576164829	0.65972	4.891664	0.999999995218261	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.91	5.91	0.95240	4.674000	0.61304	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.010	0.80188	793	0.45818	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	36	chr16	4343273	.	T	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.072;DP=701;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.679;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1190	18	0	1	0
chr16	4360972	4360972	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon17:c.C1633T:p.R545W,CORO7:NM_001201472:exon19:c.C1834T:p.R612W,CORO7-PAM16:NM_001201479:exon19:c.C1888T:p.R630W,CORO7:NM_001351729:exon19:c.C1228T:p.R410W,CORO7:NM_024535:exon19:c.C1888T:p.R630W	.	410	1111	0	1	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0267530113607	.	0.000599042	0.0004	0	8.658e-05	0.0002	0	0	0	0.0025	0.0003105	48	154602	rs140152390	0.0002	0.0002	9.131e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	2.236e-05	0	2.519e-05	0	0.0002	5.396e-06	0.0002	0.0026	0.0001	0.0001	8.999e-05	0.0002	0.0031	8.167e-05	6.723e-05	0.0019	0.0015	4.817e-05	0	6.536e-05	0	0.0002	0	0	0	0	0.0031	0.014	0.53172	D	0.021	0.58089	D	0.993	0.77913	D	0.545	0.54536	P	0.018090	0.01480	N	2.308880	1	0.81001	D	1.715	0.44382	L	2.48	0.14657	T	-2.76	0.58569	D	0.507	0.56231	-0.9960	0.31028	T	0.071	0.29066	T	10	0.03255555	0.01410	T	0.026753	0.49630	D	0.159	0.41286	0.633	0.76921	0.59385865776	0.59063	0.5378400484982784	0.53709	0.330641003172	0.43001	0.241485357285	0.02925	T	0.112608	0.42901	T	-0.474898	0.00793	T	-0.461102	0.26478	T	0.185111274329386	0.19552	T	.	.	.	0.06446882	0.13681	0.04629565	0.06420	0.06446882	0.13680	0.04629565	0.06420	-7.01	0.54413	T	.	.	0.100	0.17232	B	.;.;.;.	.;.;.;.	3.394572	0.47017	22.4	0.99902841139704124	0.97426	0.36877	0.25634	N	AEFDGBCI	0.664800	0.63384	D	0.117269447708451	0.47269	2.954951	0.0341566679455019	0.41314	2.479904	0.970223383319746	0.29191	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.17	4.15	0.47978	1.887000	0.39332	3.619000	0.39279	0.667000	0.69007	0.658000	0.28243	1.000000	0.68203	0.077000	0.17074	0.0:0.311:0.4843:0.2047	7.172	0.24901	803	0.44167	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1402.33	97	chr16	4360972	.	G	A	1402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=744;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.39;SOR=0.796	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1201	18	0	1	0
chr16	4364800	4364800	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon10:c.C764T:p.P255L,CORO7:NM_001201472:exon12:c.C965T:p.P322L,CORO7-PAM16:NM_001201479:exon12:c.C1019T:p.P340L,CORO7:NM_001351729:exon12:c.C359T:p.P120L,CORO7:NM_024535:exon12:c.C1019T:p.P340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.1117313811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.278727	0.03819	N	1.604400	1	0.81001	D	3.665	0.94315	H	1.32	0.35219	T	-9.52	0.98467	D	0.842	0.92200	-0.6720	0.61738	T	0.376	0.73416	T	10	0.95622563	0.94987	D	0.111731	0.78962	D	0.478	0.76946	0.829	0.93915	0.715788697665	0.71329	0.7381200659588484	0.73757	0.490814274517	0.47791	0.594163775444	0.52081	T	0.15677	0.49908	T	0.231887	0.76899	D	0.0953125	0.76598	D	0.999720990657806	0.98678	D	.	.	.	0.12260932	0.28809	0.14834444	0.35071	0.12260932	0.28808	0.14834444	0.35070	-10.464	0.76640	D	.	.	0.331	0.59319	B	.;.;.;.;.	.;.;.;.;.	4.179717	0.62914	24.5	0.99913068335945643	0.98167	0.99557	0.97415	D	AEFBI	0.963580	0.98551	D	0.897357783830888	0.91629	10.98143	0.827238490703855	0.91618	10.97983	0.999999999985666	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.544000	0.97191	11.683000	0.94248	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	18.573	0.91097	803	0.44167	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1959.33	41	chr16	4364800	.	G	A	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=1463;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.101;SOR=0.518	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1225	18	0	1	0
chr16	4381955	4381955	A	G	exonic	VASN	.	nonsynonymous SNV	VASN:NM_138440:exon2:c.A1078G:p.T360A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0555920332278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.746e-06	3.42e-06	4.099e-06	1.38e-06	1.165e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	1.66e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.335	0.18286	T	0.39	0.34593	B	0.054	0.25828	B	0.017607	0.27680	N	0.365911	1	0.81001	D	0.345	0.11182	N	0.46	0.56281	T	0.1	0.05810	N	0.094	0.07398	-1.0076	0.27665	T	0.079	0.31526	T	10	0.06765002	0.09455	T	0.055592	0.66293	D	0.085	0.24743	0.184	0.09259	0.502568190621	0.49893	0.47904654480200876	0.47824	0.0681984301376	0.07639	0.395076960325	0.24383	T	0.041709	0.25945	T	-0.159376	0.26856	T	-0.466709	0.25872	T	0.246582195162773	0.22719	T	.	.	.	0.043133397	0.06669	0.036824953	0.03208	0.043133397	0.06669	0.036824953	0.03208	-4.295	0.28107	T	.	.	0.06	0.00934	B	.	.	1.954494	0.24829	16.54	0.6531216305373615	0.07737	0.49730	0.28500	N	AEFDBCI	0.224312	0.34855	N	-0.476544697031456	0.22852	1.223058	-0.391329024979731	0.25254	1.387726	0.999999086213625	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.5	4.35	0.51454	0.827000	0.27075	5.332000	0.48321	0.674000	0.70861	0.028000	0.20300	1.000000	0.68203	0.158000	0.20581	0.642:0.2308:0.0:0.1272	7.285	0.25509	576	0.70006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1637.81	109	chr16	4381955	.	A	G	1637.81	.	AC=2;AF=0.053;AN=38;DP=1132;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.5;SOR=0.77	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	1	0	0
chr16	4506948	4506948	G	A	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon2:c.G53A:p.R18Q,HMOX2:NM_001127205:exon3:c.G140A:p.R47Q,HMOX2:NM_001127206:exon3:c.G140A:p.R47Q,HMOX2:NM_001286268:exon3:c.G140A:p.R47Q,HMOX2:NM_002134:exon3:c.G140A:p.R47Q,HMOX2:NM_001127204:exon4:c.G140A:p.R47Q,HMOX2:NM_001286267:exon4:c.G302A:p.R101Q,HMOX2:NM_001286269:exon4:c.G140A:p.R47Q,HMOX2:NM_001286270:exon5:c.G140A:p.R47Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	2455414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0069891893718	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs150902900	1.573e-05	1.573e-05	1.225e-05	1.925e-05	8.961e-05	1.048e-05	8.75e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	2.63e-05	2.627e-05	5.14e-05	0	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	2.94e-05	0	0	0.671	0.04548	T	0.421	0.19845	T	0.138	0.27452	B	0.033	0.22329	B	0.006916	0.31720	N	0.384614	0.996897	0.43488	D	0.785	0.19527	N	1.97	0.22067	T	-0.22	0.10480	N	0.076	0.05287	-1.0109	0.26635	T	0.027	0.11485	T	10	0.113119304	0.21241	T	0.006989	0.18513	T	0.017	0.02790	0.431	0.48007	0.156986980423	0.15292	0.41470617859219433	0.41386	0.138923697287	0.15665	0.254099100828	0.04212	T	0.161155	0.50530	T	-0.457033	0.01025	T	-0.614838	0.11596	T	0.0418931984991608	0.04035	T	0.90041	0.65400	D	0.109844655	0.25967	0.09403748	0.22242	0.109844655	0.25966	0.09403748	0.22241	-5.215	0.39094	T	.	.	0.106	0.19839	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.330711	0.29859	18.26	0.95846982066487951	0.27981	0.69309	0.34137	D	AEFBCI	0.364651	0.45311	N	-0.739718338842561	0.14913	0.7470584	-0.603618262624662	0.19400	1.040658	0.999461080686817	0.39843	0.722319	0.85440	0	0.698795	0.70079	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.54	-0.0325	0.13232	0.886000	0.27878	4.588000	0.43946	-0.244000	0.07312	0.997000	0.40164	1.000000	0.68203	0.945000	0.48827	0.3673:0.0:0.6327:0.0	9.693	0.39304	506	0.75555	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1677.33	41	chr16	4506948	.	G	A	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=778;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.493;SOR=0.48	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	18	0	1	0
chr16	4509433	4509433	G	C	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon4:c.G631C:p.A211P,HMOX2:NM_001127205:exon5:c.G718C:p.A240P,HMOX2:NM_001127206:exon5:c.G718C:p.A240P,HMOX2:NM_001286268:exon5:c.G718C:p.A240P,HMOX2:NM_002134:exon5:c.G718C:p.A240P,HMOX2:NM_001127204:exon6:c.G718C:p.A240P,HMOX2:NM_001286267:exon6:c.G880C:p.A294P,HMOX2:NM_001286269:exon6:c.G718C:p.A240P,HMOX2:NM_001286270:exon7:c.G718C:p.A240P	.	423	1087	11	1	0	13	0.00594422	.	.	.	2197304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00928104646333	0.0006	0.000998403	0.0007	0.0003	0.0003	0	0	0.0011	0.0011	0.0005	0.000705	109	154602	rs149714752	0.0007	0.0007	0.0006	0.0008	0.0069	0.0007	0.0007	0.0052	0.0046	0.0007	0.0006	0.0070	0	0.0001	0.0069	0.0006	0.0012	0.0007	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0058	0	0	0.0068	0.0006	0.0014	0.0008	0.127	0.27080	T	0.069	0.46182	T	0.938	0.52538	P	0.142	0.33681	B	0.001916	0.37691	N	0.311936	0.797064	0.29159	N	2.35	0.67516	M	1.93	0.22881	T	-1.27	0.31981	N	0.546	0.57263	-0.9992	0.30143	T	0.040	0.17404	T	10	0.008799285	0.00199	T	0.009281	0.24366	T	0.076	0.22200	.	.	0.384252928164	0.38032	0.7363986177957625	0.73584	0.201851073851	0.22596	0.376824975014	0.21805	T	0.395825	0.75461	T	-0.322666	0.06682	T	-0.310378	0.43618	T	0.0144720432120896	0.00294	T	0.811219	0.46271	T	0.4498263	0.64030	0.3063525	0.56660	0.4498263	0.64030	0.3063525	0.56659	-3.845	0.23038	T	.	.	0.653	0.71063	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.506315	0.49079	22.7	0.99684453226970837	0.79507	0.87810	0.47478	D	AEFDBCI	0.912970	0.87431	D	0.181232075835268	0.50298	3.22118	0.220786183200403	0.51001	3.286616	0.999995448483458	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	4.36	0.51643	2.891000	0.48316	5.815000	0.50038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.2558:0.0:0.7442:0.0	6.818	0.23027	520	0.74355	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.002924	0.000000	0.008621	0.003049	0.015152	0.02632	1342.33	44	chr16	4509433	.	G	C	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.179;SOR=0.616	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1356,0,1226	18	0	1	0
chr16	4575667	4575667	C	G	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon5:c.C1187G:p.P396R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0125208144502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.061	0.45530	T	0.996	0.68779	D	0.907	0.64423	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.81	0.42575	N	0.254	0.28732	-1.0180	0.24366	T	0.140	0.45941	T	8	0.21097541	0.37510	T	0.012521	0.31165	T	0.096	0.27654	0.369	0.37850	0.166414681773	0.16258	0.3297300274073882	0.32886	.	.	.	.	.	0.005362	0.04811	T	-0.168004	0.25537	T	-0.479103	0.24542	T	0.591538255849221	0.36067	D	0.442956	0.12306	T	0.07074175	0.15608	0.1655197	0.38287	0.07074175	0.15608	0.1655197	0.38286	-5.009	0.36938	T	.	.	0.165	0.36416	B	.	.	1.481974	0.19077	14.08	0.99737607768760328	0.83264	0.12697	0.17425	N	AEFDBI	0.039017	0.05607	N	-0.187693187846414	0.33646	1.91123	-0.349903951934038	0.26512	1.464872	0.00368322676929404	0.10235	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.49	3.49	0.39065	-1.246000	0.03007	-0.545000	0.08561	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:1.0:0.0:0.0	10.804	0.45709	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	674.33	34	chr16	4575667	.	C	G	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.113;DP=685;ExcessHet=0;FS=1.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.943;SOR=0.551	GT:AD:DP:GQ:PL	0/1:27,29:56:99:688,0,713	18	0	1	0
chr16	4575930	4575930	C	T	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon5:c.C1450T:p.R484C	.	426	1076	20	0	0	20	0.0092081	.	.	.	703691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0081	0.00359425	0.0062	0.0014	0.0049	0	0	0.0124	0.0105	0.0014	0.002128	329	154602	rs185475621	0.0031	0.0030	0.0030	0.0032	0.0219	0.0030	0.0030	0.0187	0.0175	0.0010	0.0044	0.0098	2.798e-05	0.0126	0.0219	0.0026	0.0050	0.0011	0.0074	0.0074	0.0076	0.0071	0.0116	0.0070	0.0069	0.0102	0.0097	0.0018	0	0.0116	0.0159	0	0.0127	0.0340	0.0092	0.0171	0.0021	0.03	0.45393	D	0.001	0.83351	D	0.998	0.73220	D	0.898	0.63708	P	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.79	0.42191	N	0.074	0.04790	-1.0846	0.06480	T	0.044	0.18989	T	8	0.005681157	0.00126	T	.	.	.	0.034	0.08419	.	.	0.0666544352282	0.05500	0.03778598341697538	0.03724	.	.	.	.	.	0.005254	0.04698	T	-0.625616	0.00102	T	-0.661042	0.08196	T	0.0243521131946829	0.01189	T	0.642936	0.25461	T	0.08853015	0.20655	0.048997357	0.07397	0.08853015	0.20654	0.048997357	0.07396	-6.412	0.49603	T	.	.	0.149	0.32922	B	.	.	1.869485	0.23749	16.14	0.99656921820020106	0.77694	0.00229	0.01284	N	AEFBI	0.033788	0.04074	N	-0.485404429487925	0.22559	1.205384	-0.710849402510924	0.16691	0.8841411	1.53828782694528E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.57	1.57	0.22490	-1.823000	0.01804	-0.095000	0.12011	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.772:0.0:0.228	3.971	0.08945	520	0.74355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031507	0.037500	0.028846	0.035714	0.100000	0.045455	0.006579	0.000000	0.02632	1418.33	38	chr16	4575930	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.013;SOR=0.723	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr16	4701046	4701046	C	T	exonic	ANKS3	.	nonsynonymous SNV	ANKS3:NM_001324129:exon7:c.G689A:p.R230H,ANKS3:NM_001242929:exon8:c.G887A:p.R296H,ANKS3:NM_001308089:exon10:c.G821A:p.R274H,ANKS3:NM_001324130:exon10:c.G338A:p.R113H,ANKS3:NM_133450:exon11:c.G1208A:p.R403H	.	427	1091	4	0	0	4	0.00182983	.	.	.	2366544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0287770185849	0.0004	0.000399361	0.0003	0.0011	0.0003	0.0005	0	6.006e-05	0.0011	0.0005	0.0002652	41	154602	rs149148220	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0007	0.0004	0	0.0004	1.875e-05	0.0017	0.0002	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0007	0	0.0004	0	0	0.0001	0.0009	0	0.11	0.29158	T	0.553	0.33894	T	0.389	0.34565	B	0.057	0.26280	B	0.002668	0.36137	N	0.336131	1	0.08975	N	0	0.06538	N	3.07	0.38718	T	0.16	0.05810	N	0.165	0.17416	-1.0644	0.10689	T	0.068	0.27947	T	10	0.03035748	0.01162	T	0.028777	0.51400	D	0.121	0.33580	.	.	0.289474373501	0.28556	0.31922691450636087	0.31835	0.0234930241752	0.02381	0.233297437429	0.02221	T	0.001502	0.03998	T	-0.484821	0.00694	T	-0.509722	0.21343	T	0.0385095634390208	0.03423	T	0.814918	0.47234	T	0.036889322	0.04625	0.025553895	0.00604	0.036889322	0.04625	0.025553895	0.00604	-4.718	0.33622	T	.	.	0.072	0.09433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.056641	0.26148	17.02	0.93479607965023348	0.23275	0.79748	0.39579	D	AEFBCI	0.484869	0.52471	N	-0.498753610983386	0.22121	1.178996	-0.441315441061193	0.23796	1.29958	0.998355845715049	0.36814	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.71	4.76	0.60189	4.801000	0.62225	0.388000	0.17857	-0.176000	0.10722	0.958000	0.33488	0.000000	0.08366	0.001000	0.02609	0.0:0.9175:0.0:0.0825	11.727	0.50979	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1873.33	158	chr16	4701046	.	C	T	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.132;SOR=0.744	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	4885944	4885944	T	C	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon22:c.A2711G:p.E904G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0387441041193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.049	0.48336	D	0.546	0.38028	P	0.136	0.33270	B	0.001412	0.39109	N	0.218105	0.927806	0.36876	D	2.39	0.68882	M	0.68	0.51952	T	-3.16	0.64246	D	0.116	0.15469	-0.8647	0.50922	T	0.112	0.40191	T	10	0.2853037	0.46112	T	0.038744	0.58406	D	0.082	0.23913	0.155	0.05858	0.725089307665	0.72265	0.11708513581255837	0.11636	0.0264716637183	0.02702	0.258670568466	0.04734	T	0.597503	0.87051	D	-0.173711	0.24676	T	-0.487301	0.23673	T	0.880983531475067	0.53102	D	0.867613	0.56877	D	0.14235456	0.32763	0.18452641	0.41510	0.14235456	0.32763	0.18452641	0.41509	-5.163	0.38563	T	.	.	0.072	0.10400	B	.;.;.	.;.;.	3.810472	0.54964	23.6	0.99852281302513435	0.93191	0.92104	0.54953	D	AEFBCI	0.699518	0.65683	D	0.0696078612544262	0.45049	2.768058	0.151362924414707	0.47214	2.955054	0.999986657683355	0.51787	0.706548	0.73137	0	0.572659	0.20510	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	3.994000	0.56707	7.955000	0.75925	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:0.0:1.0	14.830	0.69767	475	0.77788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2122.33	42	chr16	4885944	.	T	C	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=990;ExcessHet=0;FS=2.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.059;SOR=0.506	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr16	5027156	5027156	C	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon9:c.G1319C:p.G440A	.	410	1105	7	0	0	7	0.00315742	.	.	.	3192688	NAGPA-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00410096506977	0.0011	0.000399361	0.0009	0	0.0021	0	0	0.0010	0.0033	0.0012	0.0008538	132	154602	rs149923128	0.0006	0.0006	0.0006	0.0007	0.0101	0.0006	0.0006	0.0080	0.0072	0.0002	0.0017	0.0008	2.519e-05	1.872e-05	0.0101	0.0006	0.0014	0.0008	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0.0014	0	0	0.0068	0.0007	0.0047	0.0008	0.271	0.31834	T	0.459	0.26306	T	0.156	0.28196	B	0.026	0.20792	B	0.096039	0.02502	N	1.802250	1	0.08975	N	1.79	0.46772	L	2.38	0.24085	T	-0.32	0.28290	N	0.285	0.43320	-1.0241	0.22377	T	0.048	0.20474	T	10	0.0074922144	0.00170	T	0.004101	0.09806	T	0.071	0.20720	.	.	0.198526703765	0.19489	0.5620697980475041	0.56133	0.0169805560263	0.01642	0.259231984615	0.04800	T	0.202	0.55952	T	-0.554577	0.00274	T	-0.582618	0.14311	T	0.0179039233414692	0.00517	T	0.589941	0.24876	T	0.038957473	0.05288	0.04132336	0.04671	0.038957473	0.05288	0.04132336	0.04670	-3.021	0.15003	T	.	.	0.082	0.08560	B	.;.	.;.	-0.120686	0.03521	0.668	0.56524169159334892	0.05571	0.15197	0.18792	N	AEFBCI	0.147231	0.27086	N	-0.842929674083241	0.12224	0.594567	-0.903884172870788	0.12002	0.6148999	0.98848535540706	0.31531	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.09	0.304	0.15044	-0.085000	0.11215	-0.059000	0.12448	0.591000	0.32079	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.4139:0.2041:0.382	3.371	0.06801	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.050505	0.016304	0.014620	0.000000	0.008621	0.003049	0.000000	0.02632	1286.33	34	chr16	5027156	.	C	G	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.247;DP=727;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.916;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	18	0	1	0
chr16	5044400	5044400	G	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon8:c.C1034A:p.P345Q	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00862398055785	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766056131	3.768e-05	4.515e-05	4.226e-05	3.306e-05	0.0019	2.964e-05	2.66e-05	0.0011	0.0008	0	0	0	0	0	0.0019	3.69e-05	6.639e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.28836	T	-1.34	0.33401	N	0.303	0.34228	-1.0282	0.21038	T	0.120	0.41907	T	9	0.13947237	0.26518	T	0.008624	0.22779	T	0.023	0.04649	.	.	0.124217242631	0.12060	.	.	.	.	.	.	.	.	.	.	-0.328062	0.06259	T	-0.645369	0.09281	T	0.0631519271108067	0.07655	T	0.463454	0.13490	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.091	0.13315	B	.	.	1.051969	0.14333	10.91	0.97643189040622658	0.35091	0.09199	0.15003	N	AEFDBI	0.109650	0.21771	N	-0.303772686758447	0.29003	1.604647	-0.54752978918784	0.20872	1.12649	0.928636585299873	0.26936	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.29	1.05	0.19280	0.683000	0.25029	0.148000	0.15257	0.659000	0.54702	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0953:0.3297:0.5749:0.0	7.044	0.24215	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.005051	0.004076	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	1127.33	34	chr16	5044400	.	G	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=730;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.407;SOR=0.927	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1459	18	0	1	0
chr16	5058588	5058588	C	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon4:c.G532A:p.G178S,C16orf89:NM_152459:exon4:c.G532A:p.G178S	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00698432583096	0.0002	0.000399361	0.0005	0.0002	0.0003	0	0	0.0005	0	0.0011	0.0003881	60	154602	rs186670584	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0014	0.0011	0	0.0002	0.0002	2.541e-05	0	0.0024	0.0004	0.0005	0.0012	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0007	0.0006	0.0002	0	0.0011	0.0006	0	0	0	0.0003	0	0.0006	0.741	0.03696	T	0.846	0.03674	T	0.342	0.33490	B	0.018	0.18489	B	0.172264	0.17340	N	0.551469	0.999985	0.54805	D	1.355	0.33814	L	1.62	0.28189	T	0.03	0.06612	N	0.3	0.33904	-0.9834	0.34211	T	0.022	0.09147	T	10	0.013089269	0.00279	T	0.006984	0.18485	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.24858820043233887	0.24772	0.00905380675831	0.00821	.	.	.	0.00757	0.06968	T	-0.616993	0.00115	T	-0.709485	0.05322	T	0.000998299178158266	0.00010	T	0.540046	0.18281	T	0.03238793	0.03256	0.046234842	0.06399	0.03238793	0.03256	0.046234842	0.06398	-2.288	0.05593	T	.	.	0.095	0.14888	B	.;.;.	.;.;.	-0.311940	0.02566	0.312	0.88931023626950756	0.18372	0.02141	0.06307	N	AEFDBHCIJ	0.050342	0.08788	N	-1.1543081133545	0.05710	0.260987	-1.15198333701863	0.06732	0.3250515	0.999500461202212	0.40062	0.525926	0.21836	0	0.547309	0.14657	0	0.615044	0.40820	1	0.584449	0.35598	0	.	.	5.14	-1.79	0.07504	-1.306000	0.02844	-0.839000	0.07224	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.219000	0.22435	0.0:0.1857:0.2691:0.5452	5.348	0.15325	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.050000	0.000000	0.006098	0.007576	0.02632	542.33	34	chr16	5058588	.	C	T	542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.06;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	18	0	1	0
chr16	5084778	5084778	C	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_001330504:exon13:c.C959A:p.A320E,ALG1:NM_019109:exon13:c.C1292A:p.A431E	Congenital disorder of glycosylation, type Ik, Autosomal recessive	207	1304	10	1	0	12	0.00458015	.	.	.	1038442	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0392513883211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370439294	0	2.736e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.268e-05	0.0006	6.459e-05	8.115e-05	0.0002	3.993e-05	3.143e-05	9.657e-05	7.029e-05	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	0.844000	0.09012	N	0.933266	1	0.08975	N	1.01	0.25309	L	-0.87	0.74583	T	0.75	0.02099	N	0.07	0.04913	-0.9704	0.37115	T	0.176	0.52021	T	10	0.050075233	0.04687	T	0.039251	0.58699	D	0.051	0.14325	0.398	0.42590	0.569705540864	0.56636	0.3334758727207182	0.33260	1.36290245596	0.84381	0.335656493902	0.15787	T	0.037257	0.24409	T	-0.13319	0.30981	T	-0.429094	0.30037	T	0.0221786505885773	0.00930	T	0.289271	0.05243	T	0.038093913	0.05009	0.079438284	0.17883	0.038093913	0.05009	0.079438284	0.17883	-4.712	0.35509	T	0.0570100174691765	0.01359	0.106	0.19800	B	.;.;.	.;.;.	0.289681	0.06659	3.161	0.79965488561863474	0.12983	0.05878	0.11826	N	AEFCI	0.063648	0.12314	N	-1.25572321595909	0.04225	0.1902526	-1.21297390761187	0.05701	0.2723729	1.339514752108E-5	0.02871	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.05	0.271	0.14894	0.658000	0.24662	0.277000	0.16723	-0.849000	0.02733	0.187000	0.24151	0.001000	0.17328	0.096000	0.18090	0.2908:0.5493:0.0:0.1599	6.990	0.23933	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	35	chr16	5084778	.	C	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=-6.402;QD=0.46;ReadPosRankSum=-1.433;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:75,8:83:47:1|0:5084773_T_A:0,47,2549:5084773	18	0	1	0
chr16	5090111	5090111	A	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532A:p.F178I,EEF2KMT:NM_201598:exon5:c.T613A:p.F205I,EEF2KMT:NM_201400:exon6:c.T715A:p.F239I	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00634192903378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	6.876e-06	6.225e-05	9.579e-06	4.146e-06	.	3.48e-06	2.54e-06	.	.	0	0	0	0	0.0002	0	0	0	0	5.39e-05	0.0016	7.912e-05	2.756e-05	0.0002	2.614e-05	1.871e-05	8.335e-05	5.972e-05	0.0002	0	6.655e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.718	0.06490	T	0.0	0.02946	B	0.001	0.08700	B	0.051195	0.23004	N	0.452369	0.881992	0.28033	N	.	.	.	2.34	0.16351	T	-1.25	0.32991	N	0.281	0.33030	-0.9925	0.31959	T	0.024	0.10374	T	10	0.07094821	0.10392	T	0.006342	0.16668	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.35754777867292564	0.35668	0.058414084822	0.06474	0.42506146431	0.28533	T	0.004978	0.04407	T	-0.245721	0.14628	T	-0.590737	0.13603	T	0.0609278567135334	0.07315	T	0.593841	0.21938	T	0.08025057	0.18378	0.07948541	0.17899	0.08025057	0.18377	0.07948541	0.17898	-8.801	0.67213	D	.	.	0.214	0.44332	B	.;.;.	.;.;.	1.578377	0.20203	14.64	0.9265268353958801	0.22130	0.35707	0.25364	N	AEFBCI	0.046411	0.07703	N	-0.713611160653821	0.15638	0.7898892	-0.621188378201589	0.18950	1.014565	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	237.54	35	chr16	5090111	.	A	T	237.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.45;DP=737;ExcessHet=0.3672;FS=5.191;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=56.51;MQRankSum=-6.824;QD=1.68;ReadPosRankSum=0.878;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1105:.	17	0	2	0
chr16	5090111	5090111	A	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532G:p.F178V,EEF2KMT:NM_201598:exon5:c.T613G:p.F205V,EEF2KMT:NM_201400:exon6:c.T715G:p.F239V	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00715632656506	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	2.751e-06	0.0001	4.106e-06	1.382e-06	6e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6e-05	0	0	0	2.049e-05	0	0	1.663e-05	0	1.345e-05	0.0003	2.631e-05	0	0.0002	2.23e-06	8.4e-07	.	.	0	0	0	0	0.0002	9.461e-05	0	0	0	0	0.129	0.26852	T	0.539	0.13752	T	0.0	0.02946	B	0.002	0.06944	B	0.051195	0.23004	N	0.452369	0.777814	0.29366	N	.	.	.	2.33	0.16492	T	-1.93	0.46673	N	0.311	0.35727	-1.0147	0.25432	T	0.031	0.13418	T	10	0.10140133	0.18524	T	0.007156	0.18979	T	0.035	0.08770	0.464	0.53404	0.0297737177859	0.01360	0.4035785492782559	0.40273	0.0564535729519	0.06238	0.398763567209	0.24896	T	0.012655	0.11085	T	-0.222122	0.17705	T	-0.55684	0.16675	T	0.065480468112598	0.08002	T	0.763224	0.38939	T	0.18460293	0.39783	0.18031317	0.40822	0.18460293	0.39782	0.18031317	0.40821	-7.966	0.60838	D	.	.	0.263	0.49711	B	.;.;.	.;.;.	1.867389	0.23722	16.13	0.94251370723377326	0.24524	0.48749	0.28277	N	AEFBCI	0.110581	0.21924	N	-0.635506320671191	0.17885	0.9241441	-0.570366959260687	0.20267	1.091156	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	237.54	35	chr16	5090111	.	A	C	237.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.45;DP=737;ExcessHet=0.3672;FS=5.191;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=56.51;MQRankSum=-6.824;QD=1.68;ReadPosRankSum=0.878;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1105:.	18	0	1	0
chr16	5090113	5090113	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.C530T:p.A177V,EEF2KMT:NM_201598:exon5:c.C611T:p.A204V,EEF2KMT:NM_201400:exon6:c.C713T:p.A238V	.	488	1022	12	0	0	12	0.00583658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00952592763829	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158441470	3.437e-06	0.0002	4.104e-06	2.763e-06	.	1.01e-06	7.3e-07	.	.	0	0	0	0	8.141e-05	0	0	1.662e-05	0	1.317e-05	0.0003	2.576e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	9.429e-05	0	0	0	0	0.039	0.42487	D	0.123	0.35582	T	0.08	0.24665	B	0.071	0.28987	B	0.410115	0.13008	N	0.729754	0.835903	0.28697	N	.	.	.	3.26	0.06681	T	-2.28	0.52451	N	0.267	0.31027	-1.0721	0.08957	T	0.028	0.12014	T	10	0.10078591	0.18374	T	0.009526	0.24947	T	0.102	0.29158	.	.	0.0297737177859	0.01360	0.2668009168093736	0.26593	0.0615585677325	0.06861	0.366241514683	0.20291	T	0.018625	0.14980	T	-0.210329	0.19332	T	-0.5399	0.18306	T	0.136965993372595	0.16011	T	0.837416	0.50983	T	0.065766774	0.14088	0.10424658	0.25033	0.065766774	0.14087	0.10424658	0.25032	-3.878	0.23729	T	.	.	0.098	0.21277	B	.;.;.	.;.;.	2.223018	0.28372	17.77	0.99479406773288115	0.66795	0.21832	0.21539	N	AEFBCI	0.095176	0.19234	N	-0.310886337937531	0.28732	1.58733	-0.288417591132195	0.28478	1.588221	1.32033176130874E-4	0.05486	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	4.04	0.46262	0.354000	0.19885	2.901000	0.35450	0.674000	0.70861	0.011000	0.18532	1.000000	0.68203	0.837000	0.39485	0.0868:0.1531:0.6019:0.1582	4.291	0.10325	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	59.33	35	chr16	5090113	.	G	A	59.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.83;MQRankSum=-6.824;QD=1.24;ReadPosRankSum=-1.148;SOR=0.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1105:.	18	0	1	0
chr16	5090181	5090181	C	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G462C:p.K154N,EEF2KMT:NM_201598:exon5:c.G543C:p.K181N,EEF2KMT:NM_201400:exon6:c.G645C:p.K215N	.	491	1020	11	0	0	11	0.00536324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00142779162467	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs112795938	4.886e-06	0.0047	4.173e-06	5.605e-06	3.378e-05	2.03e-06	1.31e-06	3e-07	1.1e-07	3.378e-05	2.267e-05	0	0	3.789e-05	0	1.831e-06	0	1.175e-05	0.0005	0.0043	0.0006	0.0004	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0004	0	0.0002	0.0002	0	8.932e-05	0.0010	0.0002	1.0	0.00964	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.00348	N	24.680100	1	0.08975	N	.	.	.	3.32	0.07820	T	1.39	0.00925	N	0.194	0.21319	-0.9860	0.33590	T	0.009	0.03054	T	9	0.041027665	0.02722	T	0.001428	0.02139	T	0.021	0.04004	0.421	0.46365	0.0138822411134	0.00435	0.35689211218005856	0.35603	0.0505833985199	0.05556	0.274089753628	0.06682	T	0.004334	0.03739	T	-0.445631	0.01198	T	-0.877895	0.00672	T	0.0422141074880329	0.04094	T	0.243776	0.03556	T	0.030103331	0.02617	0.032476597	0.01988	0.030103331	0.02617	0.032476597	0.01988	-2.528	0.06466	T	.	.	0.056	0.03849	B	.;.;.	.;.;.	-0.425006	0.02121	0.201	0.52361600507666917	0.04733	0.01856	0.05735	N	AEFBCI	0.019369	0.00666	N	-1.31409601631361	0.03513	0.1570565	-1.35851709106572	0.03707	0.1734453	1.53276252840452E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.636	0.10930	-1.648000	0.02097	0.337000	0.17343	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2087:0.3334:0.3442:0.1137	2.694	0.04812	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	30.48	35	chr16	5090181	.	C	G	30.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=821;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=57.43;MQRankSum=-8.622;QD=0.4;ReadPosRankSum=-0.231;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090233	5090233	C	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G410A:p.R137Q,EEF2KMT:NM_201598:exon5:c.G491A:p.R164Q,EEF2KMT:NM_201400:exon6:c.G593A:p.R198Q	.	489	1030	3	0	0	3	0.00145419	.	.	.	3441631	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00806526580657	.	0.000199681	0.0001	0	0.0003	0	0.0002	3.106e-05	0	0.0003	8.41e-05	13	154602	rs553273623	7.879e-05	7.867e-05	5.181e-05	0.0001	0.0010	6.677e-05	6.21e-05	0.0004	0.0003	0	0.0002	0	2.519e-05	3.746e-05	0.0010	3.868e-05	0.0002	0.0005	8.532e-05	8.53e-05	5.138e-05	0.0001	0.0010	4.952e-05	3.958e-05	0.0004	0.0003	2.404e-05	0	0.0002	0	0	9.407e-05	0.0034	2.94e-05	0	0.0010	0.137	0.25979	T	0.351	0.17425	T	0.101	0.29891	B	0.022	0.23121	B	0.022351	0.26651	N	0.366949	0.99965	0.20771	N	.	.	.	2.04	0.20808	T	-1.94	0.45042	N	0.287	0.32481	-1.0084	0.27416	T	0.027	0.11397	T	10	0.023400903	0.00611	T	0.008065	0.21368	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.40046146185645165	0.39961	0.0520686107132	0.05727	0.186669737101	0.00172	T	0.013374	0.11580	T	-0.245933	0.14600	T	-0.591042	0.13575	T	0.0213208869099617	0.00834	T	0.635836	0.27494	T	0.06346283	0.13366	0.07919012	0.17806	0.06346283	0.13366	0.07919012	0.17806	-4.7	0.33404	T	.	.	0.080	0.09385	B	.;.;.	.;.;.	0.141660	0.05356	1.838	0.9418453623438956	0.24407	0.10078	0.15682	N	AEFBCI	0.053673	0.09690	N	-1.19650016495535	0.05053	0.2294586	-1.2453336459435	0.05200	0.2472126	1.84907349868448E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	-1.61	0.07951	-1.422000	0.02559	-2.095000	0.04221	-0.818000	0.02990	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.1131:0.5774:0.0:0.3096	6.523	0.21484	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000572	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003906	0.02632	879.33	35	chr16	5090233	.	C	T	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=789;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=1.9;QD=14.18;ReadPosRankSum=-1.002;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090471	5090471	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.C254T:p.A85V,EEF2KMT:NM_201598:exon4:c.C335T:p.A112V,EEF2KMT:NM_201400:exon5:c.C437T:p.A146V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.027400421216	.	.	0.0009	0.0021	0	0	0	0.0014	0.0011	0	3.84e-05	1	26028	rs138611861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.003	0.79402	D	0.998	0.73220	D	0.953	0.69275	D	0.000003	0.62929	D	0.060535	1	0.81001	D	.	.	.	2.29	0.17113	T	-3.27	0.66436	D	0.759	0.76296	-0.9801	0.34979	T	0.119	0.41735	T	10	0.42871127	0.57347	T	0.027	0.50213	D	0.356	0.67691	.	.	0.0806252709748	0.07271	0.8330921015322947	0.83268	0.107965557009	0.12176	0.666421532631	0.62328	T	0.055803	0.30109	T	0.0576321	0.59315	T	-0.154992	0.58800	T	0.370194643735886	0.27804	T	0.962904	0.86318	D	0.5841019	0.71832	0.59088826	0.76261	0.5841019	0.71833	0.59088826	0.76262	-12.105	0.88376	D	.	.	0.246	0.53959	B	.;.;.	.;.;.	5.255533	0.88239	29.5	0.99929513472156206	0.99279	0.92403	0.55631	D	AEFBCI	0.829083	0.74806	D	0.58335103117389	0.72135	5.758442	0.468895435762112	0.65940	4.887595	0.999423316866275	0.39630	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	8.976000	0.93015	9.845000	0.81950	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:1.0:0.0	15.221	0.73001	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	41.33	35	chr16	5090471	.	G	A	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.54;MQRankSum=-7.967;QD=0.64;ReadPosRankSum=-1.114;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090487	5090487	C	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.G238A:p.A80T,EEF2KMT:NM_201598:exon4:c.G319A:p.A107T,EEF2KMT:NM_201400:exon5:c.G421A:p.A141T	.	481	1039	2	0	0	2	0.000961538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0794356980752	.	.	0.0010	0.0021	0	0	0	0.0014	0.0011	0	3.84e-05	1	26028	rs200021489	5.481e-06	5.472e-06	4.09e-06	6.886e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.015	0.61642	D	0.996	0.68779	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.52	0.14160	T	-3.3	0.67824	D	0.879	0.91852	-0.6007	0.64788	T	0.151	0.47839	T	10	0.6091764	0.67346	D	0.079436	0.73235	D	0.463	0.75956	.	.	0.0884992946249	0.08302	0.8228202456130097	0.82239	0.109728385808	0.12372	0.552899539471	0.46266	T	0.076199	0.35361	T	0.200843	0.73971	D	0.0507206	0.73631	D	0.694793283939362	0.40472	D	0.842916	0.53399	T	0.5200874	0.68264	0.5468102	0.73801	0.5200874	0.68265	0.5468102	0.73802	-9.84	0.75041	D	.	.	0.569	0.72425	P	.;.;.	.;.;.	4.789413	0.77707	26.8	0.99869254029507304	0.94726	0.89089	0.49348	D	AEFBCI	0.688126	0.64923	D	0.687485262848653	0.78814	6.947641	0.531205294350284	0.70101	5.455864	0.999423316866275	0.39630	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.059000	0.76386	7.598000	0.61467	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:1.0:0.0:0.0	15.221	0.73001	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.33	35	chr16	5090487	.	C	T	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.495;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-7.967;QD=0.65;ReadPosRankSum=0;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090501	5090501	A	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.T224G:p.L75R,EEF2KMT:NM_201598:exon4:c.T305G:p.L102R,EEF2KMT:NM_201400:exon5:c.T407G:p.L136R	.	487	1029	6	0	0	6	0.00290698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.136697632793	.	.	0.0003	0.0006	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs200910524	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.001497	0.38855	N	0.174914	1	0.81001	D	.	.	.	2.01	0.21291	T	-5.32	0.85765	D	0.971	0.99015	-0.7700	0.56857	T	0.160	0.49413	T	10	0.873978	0.86679	D	0.136698	0.81919	D	0.591	0.83691	.	.	0.134241683229	0.13084	0.9165450799082177	0.91629	0.132609855297	0.14944	0.679264783859	0.64163	T	0.04435	0.26789	T	0.287606	0.81958	D	0.175349	0.81726	D	0.94880872964859	0.62974	D	0.967103	0.90539	D	0.9055831	0.91887	0.89281845	0.94466	0.9055831	0.91888	0.89281845	0.94466	-10.192	0.80344	D	.	.	0.505	0.70085	A	.;.;.	.;.;.	4.769277	0.77191	26.7	0.99724999690602945	0.82336	0.92352	0.55513	D	AEFBCI	0.897911	0.84061	D	0.646569220021923	0.76148	6.433104	0.555431646659352	0.71775	5.706705	0.922781705020319	0.26720	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	8.360000	0.89993	11.102000	0.86142	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	1.0:0.0:0.0:0.0	12.251	0.53912	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	41.33	35	chr16	5090501	.	A	C	41.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.104;DP=714;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.58;MQRankSum=-7.967;QD=0.64;ReadPosRankSum=1.15;SOR=0.394	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090517	5090517	A	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.T208C:p.Y70H,EEF2KMT:NM_201598:exon4:c.T289C:p.Y97H,EEF2KMT:NM_201400:exon5:c.T391C:p.Y131H	.	488	1025	9	0	0	9	0.00437105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00136352432712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159862917	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.255e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.961	0.06427	T	0.0	0.02946	B	0.0	0.01387	B	0.277161	0.15014	N	0.647410	1	0.08975	N	.	.	.	2.32	0.16640	T	3.3	0.00105	N	0.161	0.17691	-0.9643	0.38350	T	0.017	0.07045	T	9	0.08873618	0.15306	T	0.001364	0.01961	T	0.065	0.18881	.	.	0.0297737177859	0.01360	0.41347977157599547	0.41263	0.0543356685128	0.06005	0.488157510757	0.37182	T	0.003775	0.03181	T	-0.340362	0.05362	T	-0.726683	0.04479	T	0.0290493986316793	0.01845	T	0.354665	0.10529	T	0.020190619	0.00569	0.03255367	0.02008	0.020190619	0.00568	0.03255367	0.02008	0.809	0.00158	T	.	.	0.054	0.01600	B	.;.;.	.;.;.	1.277635	0.16773	12.75	0.56654149931442133	0.05599	0.07705	0.13707	N	AEFBCI	0.021174	0.00915	N	-0.823813046246278	0.12703	0.6209043	-0.734696482273677	0.16099	0.8500342	7.50914137985961E-4	0.07741	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	1.695000	0.37381	6.597000	0.56044	-0.105000	0.15698	0.344000	0.25709	1.000000	0.68203	0.030000	0.13115	0.0899:0.1691:0.741:0.0	7.272	0.25437	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.33	35	chr16	5090517	.	A	G	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.208;DP=702;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.47;MQRankSum=-7.711;QD=0.87;ReadPosRankSum=1.39;SOR=0.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr16	5090539	5090540	GG	-	exonic	EEF2KMT	.	stopgain	EEF2KMT:NM_001289029:exon3:c.185_186del:p.S62*,EEF2KMT:NM_201598:exon4:c.266_267del:p.S89*,EEF2KMT:NM_201400:exon5:c.368_369del:p.S123*	.	504	976	28	0	14	42	0.0141414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.694e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	87.29	35	chr16	5090538	.	CGG	C	87.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.258;DP=670;ExcessHet=0;FS=4.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.3;MQRankSum=-7.378;QD=1.56;ReadPosRankSum=1.66;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:75:.:.:0,75,1125:.	18	0	1	0
chr16	5090540	5090540	G	0	exonic	EEF2KMT	.	.	.	.	513	806	164	18	21	221	0.110375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1568.83	35	chr16	5090540	.	G	*	1568.83	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=672;ExcessHet=1.3;FS=2.959;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.63;SOR=0.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:11,0:30:99:.:.:548,581,886:.	18	0	1	0
chr16	5090561	5090561	G	C	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon3:c.C164G:p.S55W,EEF2KMT:NM_201598:exon4:c.C245G:p.S82W,EEF2KMT:NM_201400:exon5:c.C347G:p.S116W	.	513	980	28	1	0	30	0.0150754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0338618146022	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150027967	3.428e-06	0.0002	4.092e-06	2.756e-06	0.0002	1e-06	7.3e-07	5.871e-05	3.772e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.021	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.013923	0.28688	U	0.324044	0.999999	0.58761	D	.	.	.	3.27	0.17431	T	-4.56	0.82896	D	0.486	0.53620	-1.1545	0.00897	T	0.072	0.29323	T	10	0.60828525	0.67299	D	0.033862	0.55276	D	0.190	0.46781	.	.	0.193865811164	0.18958	0.5515873003850684	0.55084	0.0597941320021	0.06652	0.542487621307	0.44796	T	0.163386	0.50842	T	-0.0469236	0.44913	T	-0.305179	0.44175	T	0.937942743301392	0.60815	D	0.686031	0.65873	T	0.14838506	0.33877	0.22992988	0.48080	0.14838506	0.33877	0.22992988	0.48079	-6.987	0.71412	T	.	.	0.16	0.35372	B	.;.;.	.;.;.	3.523737	0.49411	22.8	0.98956090738795988	0.49227	0.70892	0.34780	D	AEFBCI	0.296195	0.40611	N	0.461205453111896	0.64842	4.748037	0.357761579600421	0.58977	4.071827	0.0726830191689696	0.15609	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	3.088000	0.49873	3.969000	0.40810	-0.725000	0.03763	0.746000	0.29090	1.000000	0.68203	0.000000	0.00833	0.0:0.0:1.0:0.0	15.221	0.73001	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	118.33	35	chr16	5090561	.	G	C	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.385;DP=545;ExcessHet=0;FS=4.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.97;MQRankSum=-6.662;QD=2.57;ReadPosRankSum=-0.131;SOR=0.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:51:.:.:0,51,765:.	18	0	1	0
chr16	9938544	9938544	G	A	exonic	GRIN2A	.	nonsynonymous SNV	GRIN2A:NM_001134407:exon3:c.C422T:p.T141M,GRIN2A:NM_001134408:exon3:c.C422T:p.T141M,GRIN2A:NM_000833:exon4:c.C422T:p.T141M	Epilepsy, focal, with speech disorder and with or without mental retardation, Autosomal dominant	1	1518	2	0	1	3	0.000658328	.	.	.	203374	not_provided|Inborn_genetic_diseases|GRIN2A-related_disorder|Landau-Kleffner_syndrome|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.185	0.231731407444	0.0011	0.000599042	0.0011	0.0001	0.0007	0	0	0.0015	0	0.0012	0.0010737	166	154602	rs78631453	0.0016	0.0016	0.0015	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0006	0.0037	0	0.0003	0.0005	0.0018	0.0011	0.0012	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0001	0.0040	0	0.0003	0	0.0016	0	0.0012	0.206	0.21066	T	0.289	0.31427	T	0.016	0.17332	B	0.01	0.14941	B	0.000831	0.41547	N	0.287086	1	0.81001	D	-1.04	0.01097	N	-1.6	0.82165	D	-0.87	0.23590	N	0.234	0.26354	-1.0037	0.28844	T	0.136	0.45126	T	9	0.008182764	0.00186	T	0.231731	0.88289	D	0.185	0.45933	.	.	0.642405806142	0.63945	0.605003862362036	0.60431	0.645072804293	0.57977	0.262629628181	0.05207	T	0.311047	0.68296	T	-0.423554	0.01624	T	-0.383604	0.35300	T	0.00499161585346308	0.00054	T	0.821218	0.52437	T	0.03151473	0.03006	0.045313235	0.06070	0.035295565	0.04125	0.042294063	0.05003	-4.741	0.33896	T	0.13974314826536385	0.15579	0.082	0.09578	B	.;.;.;.;.	.;.;.;.;.	2.228278	0.28446	17.80	0.86104735373430785	0.16316	0.76323	0.37423	D	AEFBI	0.163829	0.29015	N	-0.751373177058921	0.14596	0.7284039	-0.564894706465161	0.20410	1.099559	2.37517155559102E-5	0.03498	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.48	1.61	0.22752	2.869000	0.48142	4.422000	0.43319	-0.113000	0.14837	0.991000	0.37257	1.000000	0.68203	0.850000	0.40195	0.5279:0.0:0.4721:0.0	5.933	0.18388	868	0.31772	Receptor, ligand binding region;Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	687.33	40	chr16	9938544	.	G	A	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=1.82;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1466	18	0	1	0
chr16	10533026	10533026	G	A	exonic	EMP2	.	nonsynonymous SNV	EMP2:NM_001424:exon5:c.C383T:p.A128V	Nephrotic syndrome, type 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1941167	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.047347896458	7.7e-05	0.000399361	4.947e-05	0.0005	0	0	0	1.5e-05	0	0	5.17e-05	8	154602	rs373205953	2.879e-05	2.941e-05	3.273e-05	2.48e-05	0.0004	2.155e-05	1.911e-05	0.0003	0.0002	0.0004	2.251e-05	0	0	0	0	1.981e-05	4.975e-05	2.336e-05	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	4.414e-05	0	0	0.311	0.13971	T	0.282	0.21545	T	0.001	0.07471	B	0.0	0.01387	B	0.000001	0.00162	U	43.698300	1	0.08975	N	0	0.06538	N	-2.45	0.88847	D	-0.21	0.10308	N	0.129	0.20129	-0.7756	0.56548	T	0.373	0.73159	T	10	0.015414298	0.00324	T	0.047348	0.62879	D	0.403	0.71636	.	.	0.347217280506	0.34334	0.5345884180697675	0.53383	0.0330330599586	0.03452	0.226104706526	0.01693	T	0.248039	0.61778	T	-0.408718	0.02027	T	-0.456122	0.27023	T	0.0262053402367269	0.01433	T	0.213579	0.02626	T	0.03311311	0.03467	0.03131261	0.01704	0.03311311	0.03467	0.03131261	0.01703	-2.892	0.09064	T	0.09296943877783413	0.06066	0.070	0.03515	B	.;.	.;.	-4.009261	0.00001	0.001	0.72734735845102738	0.10077	0.01354	0.04641	N	AEFBI	0.132949	0.25243	N	-2.8148164465413	0.00002	0.0001253899	-2.93251721904919	0.00002	9.715149e-05	1.0	0.98316	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.26	-10.5	0.00234	-6.851000	0.00064	.	.	-4.134000	0.00041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.177:0.3131:0.1187:0.3911	2.885	0.05311	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	337.33	33	chr16	10533026	.	G	A	337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=671;ExcessHet=0;FS=4.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=0.259;SOR=0.269	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	18	0	1	0
chr16	10694731	10694731	T	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.A143T:p.N48I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0037740898639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.225	0.25514	T	0.019	0.17989	B	0.028	0.21332	B	0.002023	0.37411	N	0.195598	0.992641	0.23848	N	2.56	0.74772	M	4.1	0.02944	T	-0.51	0.15986	N	0.476	0.51137	-0.9492	0.41109	T	0.008	0.02884	T	10	0.15762416	0.29659	T	0.003774	0.08775	T	0.051	0.14325	0.462	0.53079	0.295623431141	0.29171	0.44248181803434294	0.44165	0.0280664298658	0.02883	0.49668610096	0.38365	T	0.013585	0.11722	T	-0.16731	0.25641	T	-0.478105	0.24648	T	0.22488060593605	0.21705	T	0.739826	0.35853	T	0.105488844	0.24942	0.09359363	0.22115	0.105488844	0.24942	0.09359363	0.22114	-6.51	0.50363	T	.	.	0.249	0.48324	B	.	.	1.194498	0.15859	12.15	0.97040763667557062	0.32109	0.77984	0.38410	D	AEFDBI	0.149820	0.27399	N	-0.366686258620493	0.26664	1.456907	-0.28542073566796	0.28577	1.594516	0.203422730482651	0.18152	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.99	2.68	0.30839	0.786000	0.26505	.	.	0.665000	0.62972	0.905000	0.31549	0.006000	0.19429	0.730000	0.35099	0.1783:0.1434:0.1858:0.4925	0.836	0.01067	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	39	chr16	10694731	.	T	A	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.892;DP=798;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.553;SOR=0.559	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1371	18	0	1	0
chr16	10694795	10694795	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G79A:p.V27I	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00339457	0.0066	0.0015	0.0029	0	0.0038	0.0091	0.0046	0.0069	0.0065976	1020	154602	rs61731533	0.0096	0.0096	0.0095	0.0097	0.0111	0.0094	0.0094	0.0109	0.0109	0.0013	0.0029	0.0035	5.038e-05	0.0050	0.0066	0.0111	0.0078	0.0068	0.0060	0.0060	0.0063	0.0057	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0022	0.0033	0.0023	0	0.0029	0.0034	0.0103	0.0066	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.014	0.16862	B	0.124729	0.02757	N	1.902590	1	0.08975	N	1.95	0.52479	M	4.26	0.02538	T	0.0	0.07008	N	0.064	0.03613	-0.9154	0.46168	T	0.006	0.01944	T	10	0.0047971606	0.00101	T	.	.	.	0.030	0.07022	.	.	0.0846915920261	0.08053	0.16170722598953352	0.16091	0.0229737181384	0.02324	0.288652807474	0.08726	T	0.005992	0.05431	T	-0.724747	0.00026	T	-0.802794	0.01833	T	0.000307336298735413	0.00002	T	0.359864	0.08266	T	0.020847002	0.00658	0.023667308	0.00380	0.020847002	0.00658	0.023667308	0.00380	-3.793	0.20700	T	.	.	0.072	0.04316	B	.	.	-0.513565	0.01825	0.144	0.42045500763704391	0.03073	0.11876	0.16918	N	AEFDGBI	0.074899	0.15026	N	-1.2717455739678	0.04020	0.1806595	-1.29849188015234	0.04451	0.2099952	0.330834579795098	0.19484	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.46	0.037	0.13513	0.275000	0.18461	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5188:0.0:0.4812	8.111	0.30074	970	0.06235	.	.	.	TEKT5	Testis	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.02632	1196.33	39	chr16	10694795	.	C	T	1196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.98;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=0.465;SOR=0.64	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1371	18	0	1	0
chr16	10744035	10744035	G	C	exonic	NUBP1	.	nonsynonymous SNV	NUBP1:NM_001278506:exon2:c.G94C:p.A32P,NUBP1:NM_001323594:exon2:c.G94C:p.A32P,NUBP1:NM_001323595:exon2:c.G94C:p.A32P,NUBP1:NM_001323596:exon2:c.G94C:p.A32P,NUBP1:NM_002484:exon2:c.G94C:p.A32P	.	.	.	.	.	.	.	.	.	.	.	3355801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.03654312449	.	.	9.139e-05	0	0	0	0	8.225e-05	0	0.0003	5.17e-05	8	154602	rs752879211	5.67e-05	5.678e-05	5.011e-05	6.337e-05	0.0002	4.649e-05	4.252e-05	0.0002	0.0001	0	0	0	0	0	0.0002	5.357e-05	3.397e-05	0.0002	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.048	0.72224	D	0.997	0.70673	D	0.951	0.73562	D	0.000027	0.55875	D	0.069155	1	0.81001	D	2.07	0.56829	M	0.85	0.47130	T	-4.42	0.77470	D	0.74	0.74007	-0.8501	0.51962	T	0.138	0.45583	T	10	0.4576661	0.59090	T	0.036543	0.57060	D	0.205	0.49236	0.33	0.31519	0.667366933581	0.66456	0.7760755845811015	0.77557	0.153963351702	0.17378	0.766426384449	0.76889	T	0.101985	0.51183	T	-0.1354	0.30627	T	-0.206567	0.54022	T	0.886719346046448	0.53715	D	0.960104	0.86839	D	0.886434	0.90204	0.890515	0.94303	0.886434	0.90205	0.890515	0.94303	-7.267	0.55960	T	.	.	0.647	0.82009	P	.;.;.	.;.;.	5.106484	0.85353	28.6	0.99734232135141776	0.82975	0.78920	0.39013	D	ALL	0.773217	0.70730	D	0.612087688417151	0.73938	6.048526	0.531159053276876	0.70097	5.455392	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.12	4.12	0.47504	5.011000	0.63768	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	15.302	0.73663	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	516.33	34	chr16	10744035	.	G	C	516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.876;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.428;SOR=0.524	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr16	10757971	10757971	G	A	exonic	NUBP1	.	nonsynonymous SNV	NUBP1:NM_001278506:exon6:c.G517A:p.V173I,NUBP1:NM_001323594:exon6:c.G481A:p.V161I,NUBP1:NM_001323595:exon7:c.G550A:p.V184I,NUBP1:NM_001323596:exon7:c.G550A:p.V184I,NUBP1:NM_001323597:exon7:c.G403A:p.V135I,NUBP1:NM_002484:exon7:c.G550A:p.V184I	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0203239130858	.	0.00179712	0.0009	0	0	0	0	0.0001	0	0.0062	0.0007827	121	154602	rs556528701	0.0004	0.0004	0.0003	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	0.0002	0	2.519e-05	0.0004	0.0002	4.137e-05	0.0004	0.0061	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	7.225e-05	0	0.0001	0	0	9.436e-05	0.0068	2.94e-05	0	0.0048	0.102	0.30235	T	0.19	0.29843	T	0.376	0.36524	B	0.177	0.35687	B	0.000025	0.55875	D	0.118078	0.999983	0.54805	D	1.525	0.38595	L	1.47	0.31987	T	-0.7	0.19933	N	0.325	0.37405	-1.0878	0.05908	T	0.070	0.28642	T	10	0.009803742	0.00220	T	0.020324	0.42890	T	0.102	0.29158	.	.	0.335661160332	0.33175	0.6675080263785818	0.66688	0.0215515716636	0.02143	0.570776462555	0.48787	T	0.025527	0.19070	T	-0.488156	0.00665	T	-0.471922	0.25309	T	0.0426443975695784	0.04172	T	0.875712	0.58780	D	0.033956986	0.03719	0.06278157	0.12336	0.033956986	0.03719	0.06278157	0.12336	-7.214	0.55582	T	.	.	0.113	0.23465	B	.;.;.	.;.;.	3.289486	0.45108	22.1	0.98792741845414422	0.46317	0.96806	0.71039	D	AEFGBI	0.683548	0.64619	D	-0.0826683198066108	0.38151	2.230217	-0.0488422565137635	0.37540	2.199418	0.993888284514709	0.33395	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	4.18	0.48473	6.098000	0.71106	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.374000	0.26200	0.0:0.1594:0.8406:0.0	13.199	0.59182	940	0.13648	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2150.33	39	chr16	10757971	.	G	A	2150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=776;ExcessHet=0;FS=1.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.181;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1460	18	0	1	0
chr16	11178473	11178473	G	A	exonic	CLEC16A	.	nonsynonymous SNV	CLEC16A:NM_015226:exon23:c.G2945A:p.S982N	.	417	1083	21	1	0	23	0.0105071	.	.	.	714716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0055	0.00279553	0.0054	0.0021	0.0026	0	0.0041	0.0079	0.0112	0.0024	0.0052457	811	154602	rs72650689	0.0060	0.0060	0.0057	0.0062	0.0125	0.0059	0.0058	0.0102	0.0093	0.0012	0.0024	0.0085	0	0.0026	0.0125	0.0068	0.0056	0.0026	0.0047	0.0047	0.0050	0.0044	0.0084	0.0044	0.0043	0.0078	0.0076	0.0012	0.0011	0.0018	0.0078	0	0.0021	0.0102	0.0084	0.0061	0.0014	0.012	0.54683	D	0.133	0.34359	T	0.967	0.56408	D	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.819681	0.37079	D	2.005	0.54552	M	0.49	0.55775	T	-1.03	0.27052	N	0.321	0.36148	-0.6061	0.64565	T	0.171	0.51261	T	10	0.009528667	0.00215	T	.	.	.	0.171	0.43483	.	.	0.69310590244	0.69046	0.4805726095281292	0.47977	0.747258973933	0.63585	0.528952538967	0.42886	T	0.11364	0.43084	T	-0.342711	0.05202	T	-0.258092	0.49015	T	0.0123911295689971	0.00203	T	0.888211	0.61727	D	0.31386065	0.54117	0.21024717	0.45402	0.31386065	0.54117	0.21024717	0.45401	-5.295	0.39894	T	.	.	0.495	0.64371	A	.	.	4.549481	0.71588	25.7	0.99700423951381956	0.80591	0.96790	0.70953	D	AEFDBI	0.773732	0.70765	D	0.586379035872873	0.72326	5.78781	0.596990418027236	0.74722	6.185836	0.999996601897484	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.755437	0.99637	0	.	.	4.64	4.64	0.57399	7.646000	0.82603	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	15.032	0.71375	835	0.38313	.	RP11-876N24.3|RP11-876N24.4|RP11-876N24.3|CIITA|RP11-876N24.3|RP11-876N24.4|RMI2|RP11-876N24.4	Adipose_Subcutaneous|Adipose_Subcutaneous|Breast_Mammary_Tissue|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.004076	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	3319.33	34	chr16	11178473	.	G	A	3319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.044;DP=895;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.52;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	18	0	1	0
chr16	11384311	11384311	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon64:c.C9598T:p.L3200F	.	886	626	8	2	0	12	0.00949367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0026	0	0.0106	0	0	0.0033	0	0	0.0002652	41	154602	rs533015028	0.0010	0.0008	0.0010	0.0010	0.0116	0.0009	0.0009	0.0086	0.0075	0.0002	0.0026	0.0073	0	0	0.0116	0.0007	0.0019	0.0071	0.0012	0.0012	0.0010	0.0013	0.0091	0.0010	0.0010	0.0070	0.0062	0.0002	0	0.0010	0.0081	0	0	0.0136	0.0010	0.0028	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008353472	0.00189	T	.	.	.	.	.	.	.	0.240491677333	0.23641	.	.	.	.	.	.	.	.	.	.	-0.369615	0.03613	T	-0.354144	0.38730	T	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.51772	B	.	.	2.578696	0.33431	19.34	0.99597580469521685	0.73983	0.41198	0.26604	N	AEFDBI	0.081172	0.16422	N	.	.	.	.	.	.	0.998383975066426	0.36869	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.91	0.528	0.16282	2.444000	0.44549	1.159000	0.24539	0.618000	0.50648	1.000000	0.71638	0.197000	0.23541	0.106000	0.18562	0.2496:0.0:0.5113:0.2391	2.817	0.05124	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	766.33	41	chr16	11384311	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.76;SOR=0.719	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	11391752	11391752	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon58:c.C8645T:p.A2882V	.	961	560	1	0	0	1	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs995801883	4.908e-05	4.378e-05	3.859e-05	6.081e-05	0.0031	3.828e-05	3.471e-05	0.0016	0.0012	0	0	0	0	0	0.0031	4.022e-05	6.869e-05	0.0002	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049872965	0.04639	T	.	.	.	.	.	.	.	0.203808441222	0.19973	.	.	.	.	.	.	.	.	.	.	-0.381003	0.03071	T	-0.785061	0.02304	T	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21728	B	.	.	-0.027736	0.04094	0.962	0.72526325184203	0.10004	0.04470	0.10080	N	AEFDBHCIJ	0.029827	0.02886	N	.	.	.	.	.	.	0.988788724666464	0.31627	0.554377	0.28877	0	0.547309	0.14657	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	4.35	1.09	0.19517	-0.354000	0.07731	-2.947000	0.03203	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.5518:0.348:0.1002	6.728	0.22554	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	36	chr16	11391752	.	G	A	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.457;SOR=0.779	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,103,1422	18	0	1	0
chr16	11399491	11399491	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon52:c.G7742A:p.R2581Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs971579899	3.65e-05	3.784e-05	1.644e-05	5.6e-05	0.0016	1.815e-05	1.342e-05	0.0006	0.0004	0	0	0	0	0	0	2.527e-05	0	0.0016	5.908e-05	5.906e-05	2.57e-05	9.396e-05	0.0014	3.075e-05	2.208e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06389147	0.08391	T	.	.	.	.	.	.	.	0.223847106136	0.22009	.	.	.	.	.	.	.	.	.	.	-0.288005	0.09837	T	-0.651476	0.08851	T	.	.	.	0.477152	0.14354	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.	.	-0.677479	0.01373	0.078	0.85734344491443082	0.16078	0.18987	0.20482	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.72205399558439	0.22944	0.067872	0.01466	2	0.060609	0.00678	0	0.099915	0.03048	0	0.062806	0.01542	0	0.156243	0.27789	4.26	0.653	0.17000	-0.261000	0.08718	-3.248000	0.02936	-1.090000	0.01539	0.330000	0.25589	0.000000	0.08366	0.001000	0.02609	0.0:0.5496:0.0:0.4504	5.234	0.14755	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	735.33	54	chr16	11399491	.	C	T	735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.796;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	18	0	1	0
chr16	11414445	11414445	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon44:c.C6656T:p.A2219V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380985419	4.034e-06	1.431e-05	8.181e-06	0	6.321e-06	0	0	.	.	0	0	0	0	0	0	6.321e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097067386	0.17456	T	.	.	.	.	.	.	.	0.210429274316	0.20668	.	.	.	.	.	.	.	.	.	.	-0.26865	0.11907	T	-0.623673	0.10900	T	.	.	.	0.408659	0.10529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26576	B	.	.	0.895663	0.12696	9.216	0.37222168569273256	0.02440	0.01879	0.05782	N	AEFDBI	0.039580	0.05768	N	.	.	.	.	.	.	0.725135113258075	0.22978	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	3.71	-0.795	0.10364	0.310000	0.19112	1.585000	0.27497	-0.272000	0.06708	0.011000	0.18532	0.006000	0.19429	0.006000	0.07323	0.3426:0.0:0.4684:0.189	3.134	0.06047	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	35	chr16	11414445	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=728;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=2.54;SOR=0.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1167:.	18	0	1	0
chr16	11424262	11424263	CG	-	exonic	LOC400499	.	frameshift deletion	LOC400499:NM_001370704:exon40:c.5990_5991del:p.A1997Gfs*56	.	981	538	3	0	0	3	0.00278035	.	.	.	4021153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0031	0	0.0213	0	0	0.0033	0	0	0.0002689	7	26028	rs556781068	0.0027	0.0013	0.0027	0.0027	0.0116	0.0025	0.0025	0.0071	0.0058	0.0004	0.0048	0.0056	0	0.0003	0.0116	0.0031	0.0037	0.0020	0.0022	0.0022	0.0023	0.0020	0.0054	0.0020	0.0019	0.0044	0.0041	0.0006	0	0.0054	0.0072	0	9.409e-05	0.0102	0.0025	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1827.29	33	chr16	11424261	.	CCG	C	1827.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=1386;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.021;SOR=0.823	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1841,0,1694	18	0	1	0
chr16	11477909	11477909	C	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon18:c.G2461T:p.A821S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.052e-06	1.59e-06	0	7.994e-06	.	0	0	.	.	0	0	0	0	0	0	0	6.107e-05	0	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999712	0.20609	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11388022	0.21408	T	.	.	.	.	.	.	.	0.356281029322	0.35234	.	.	.	.	.	.	.	.	.	.	-0.179109	0.23869	T	-0.495054	0.22861	T	.	.	.	0.50155	0.15709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34449	B	.	.	0.550408	0.09190	5.973	0.75630595171389625	0.11150	0.04402	0.09988	N	AEFDBI	0.093987	0.19010	N	.	.	.	.	.	.	0.0968839242636867	0.16265	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	-0.328	0.12061	0.368000	0.20132	-2.780000	0.03369	0.549000	0.26987	0.106000	0.22914	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.0:0.3843	8.079	0.29895	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	36	chr16	11477909	.	C	A	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=757;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=3.85;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	18	0	1	0
chr16	11491841	11491841	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon13:c.C1589T:p.S530L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs566917404	0.0006	0.0003	0.0005	0.0007	0.0008	0.0005	0.0005	0.0001	9.349e-05	0	0.0001	0.0115	0	0	0.0008	0.0002	0.0010	0	0.0004	0.0004	0.0003	0.0004	0.0001	0.0003	0.0003	7.908e-05	5.994e-05	4.83e-05	0	6.548e-05	0.0115	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033482254	0.01525	T	.	.	.	.	.	.	.	0.803898328446	0.80206	.	.	.	.	.	.	.	.	.	.	0.0494451	0.58272	T	-0.166752	0.57739	T	.	.	.	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17615	B	.	.	2.943053	0.39137	20.9	0.91817507914591956	0.21126	0.78689	0.38861	D	AEFBCI	0.176122	0.30332	N	.	.	.	.	.	.	0.999895297797396	0.45129	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	4.180000	0.58093	4.348000	0.43078	0.618000	0.50648	0.790000	0.29595	0.744000	0.26502	0.005000	0.06747	0.0:0.0:1.0:0.0	13.871	0.63119	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	495.33	34	chr16	11491841	.	G	A	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=677;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.341;SOR=0.914	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1262	18	0	1	0
chr16	11927453	11927458	CGGCCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.587_592del:p.R196_A198delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0044	0	0	0	0	0	0	3.84e-05	1	26028	rs767307475	1.011e-05	8.808e-06	1.222e-05	8.024e-06	0.0004	5.11e-06	3.73e-06	0.0002	0.0001	0.0004	5.122e-05	0	0	0	0	0	4.807e-05	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2995.78	34	chr16	11927452	.	GCGGCCC	G	2995.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	14	0	5	0
chr16	11927460	11927495	CCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.550_585del:p.A184_R195del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0066	0	0	0	0	0	0	3.84e-05	1	26028	rs752461034	9.48e-06	7.925e-06	1.142e-05	7.557e-06	0.0004	4.79e-06	3.5e-06	0.0002	0.0001	0.0004	5.046e-05	0	0	0	0	0	4.56e-05	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	T	2954.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	18	0	1	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:239:99:.:.:7266,7269,7276:.	13	0	6	0
chr16	11927729	11927729	T	A	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.A316T:p.T106S	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00279553	0.0022	0	0.0001	0	0	4.474e-05	0.0015	0.0125	0.0006916	18	26028	rs544179686	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0091	0.0089	0	4.475e-05	0	0	0	0.0007	5.398e-06	0.0006	0.0097	0.0005	0.0005	0.0003	0.0006	0.0134	0.0004	0.0003	0.0108	0.0098	0.0001	0	0	0	0	0	0	0	0.0005	0.0134	0.007	0.59928	D	0.096	0.69154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	-2.81	0.59389	D	0.079	0.05414	-0.7655	0.57104	T	0.150	0.47699	T	3	0.0060790777	0.00137	T	.	.	.	0.042	0.11227	0.374	0.38667	0.239901079897	0.23603	0.018571685932389784	0.01811	1.02707319515	0.75308	.	.	.	.	.	.	-0.546396	0.00307	T	-0.548241	0.17495	T	0.0522176892409505	0.05885	T	0.770923	0.40277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.56997	A	.;.	.;.	1.031240	0.14111	10.69	0.90882057146858375	0.20131	0.00207	0.01180	N	AEFI	0.038711	0.05518	N	-0.764266491465599	0.14248	0.7082318	-1.01842551712478	0.09380	0.4663488	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.065000	0.14336	-1.849000	0.04615	0.085000	0.17582	0.069000	0.22043	0.000000	0.08366	0.084000	0.17470	.	.	.	758	0.50837	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	44	chr16	11927729	.	T	A	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=950;ExcessHet=0;FS=10.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.54;MQRankSum=4.9;QD=8.79;ReadPosRankSum=-3.933;SOR=1.348	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr16	12051951	12051951	A	T	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_001376490:exon8:c.A853T:p.T285S,SNX29:NM_032167:exon8:c.A853T:p.T285S	.	420	1093	9	0	0	9	0.00410023	.	.	.	2807650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.0155961869756	0.0025	0.00159744	0.0021	0.0007	0.0012	0	0.0006	0.0031	0	0.0013	0.0022121	342	154602	rs150300274	0.0036	0.0036	0.0036	0.0036	0.0069	0.0035	0.0035	0.0052	0.0046	0.0007	0.0021	3.827e-05	0	0.0003	0.0069	0.0043	0.0037	0.0012	0.0027	0.0027	0.0027	0.0026	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0039	0	0	9.439e-05	0	0.0044	0.0048	0.0010	0.561	0.06361	T	0.663	0.06448	T	.	.	.	.	.	.	0.822657	0.09166	N	0.916732	0.999995	0.08975	N	.	.	.	0.9	0.45248	T	-0.58	0.17417	N	0.123	0.11483	-1.0427	0.16503	T	0.095	0.35818	T	7	0.004095137	0.00080	T	0.015596	0.36422	T	.	.	.	.	0.148003135375	0.14442	0.13629651383783775	0.13553	.	.	0.341780364513	0.16705	T	0.014162	0.12111	T	-0.626108	0.00101	T	-0.671733	0.07498	T	0.0039223764210912	0.00042	T	0.521748	0.17009	T	0.021301692	0.00725	0.022389593	0.00264	0.021301692	0.00725	0.022389593	0.00264	-2.559	0.06198	T	.	.	0.078	0.06990	B	.	.	0.384214	0.07562	4.214	0.69453264909579915	0.08977	0.24477	0.22406	N	AEFBI	0.047925	0.08123	N	-0.840952613823748	0.12273	0.5972382	-0.910882368747541	0.11837	0.6054806	0.00154831679957211	0.08631	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	-0.571	0.11161	1.695000	0.37381	1.784000	0.28742	-0.140000	0.12423	0.505000	0.26994	0.489000	0.25143	0.276000	0.23917	0.3717:0.4927:0.1356:0.0	7.782	0.28235	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002969	0.000000	0.002740	0.008621	0.000000	0.000000	0.003759	0.004202	0.02632	1490.33	40	chr16	12051951	.	A	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=799;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.05;QD=12.22;ReadPosRankSum=-0.474;SOR=0.814	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	12704921	12704921	C	T	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G418A:p.E140K	.	424	1053	44	1	0	46	0.0213755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0075	0.00539137	0.0065	0.0024	0.0080	0.0001	0.0061	0.0084	0.0144	0.0031	0.0064488	997	154602	rs149102231	0.0062	0.0062	0.0062	0.0063	0.0499	0.0061	0.0061	0.0452	0.0433	0.0036	0.0083	0.0356	5.038e-05	0.0050	0.0499	0.0057	0.0093	0.0026	0.0063	0.0063	0.0061	0.0064	0.0088	0.0059	0.0058	0.0076	0.0072	0.0024	0.0329	0.0088	0.0369	0	0.0057	0.0510	0.0065	0.0128	0.0033	0.856	0.02698	T	0.859	0.03418	T	0.003	0.11197	B	0.009	0.14300	B	0.182096	0.17075	N	0.643319	0.999965	0.19781	N	1.61	0.41143	L	-1.87	0.84415	D	-0.65	0.18877	N	0.133	0.12913	-0.8958	0.48408	T	0.210	0.56959	T	10	0.0033424199	0.00058	T	.	.	.	0.173	0.43840	.	.	0.334161072951	0.33023	0.5121376107525119	0.51135	0.0585219304848	0.06489	0.302525937557	0.10778	T	0.056636	0.30342	T	-0.411351	0.01947	T	-0.358245	0.38256	T	0.000492272297246034	0.00004	T	0.60384	0.22664	T	0.05335536	0.10085	0.048856646	0.07343	0.05335536	0.10084	0.048856646	0.07342	-6.533	0.50540	T	.	.	0.088	0.11461	B	.	.	0.915870	0.12904	9.415	0.77108861031554243	0.11740	0.19229	0.20579	N	AEFBI	0.140660	0.26262	N	-1.08559637687677	0.06908	0.3193624	-1.07588644487941	0.08177	0.4008957	3.89740331531611E-4	0.06781	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	2.26	0.27418	1.081000	0.30402	-0.311000	0.10039	-0.181000	0.10308	0.088000	0.22533	0.000000	0.08366	0.221000	0.22489	0.1582:0.5187:0.1534:0.1696	2.229	0.03747	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.056395	0.050505	0.070652	0.073099	0.050000	0.043103	0.039634	0.026515	0.02632	2497.33	33	chr16	12704921	.	C	T	2497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=788;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.414;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1274	18	0	1	0
chr16	12705045	12705045	C	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G294T:p.K98N	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0127190188886	0.0015	0.000399361	0.0016	0.0003	0.0009	0	0	0.0015	0.0048	0.0056	0.00152	235	154602	rs202086201	0.0019	0.0019	0.0017	0.0020	0.0049	0.0018	0.0018	0.0046	0.0044	0.0003	0.0007	0.0040	2.53e-05	7.536e-05	0.0039	0.0018	0.0018	0.0049	0.0010	0.0010	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0032	0	0	0	0.0015	0.0024	0.0048	0.5	0.07746	T	0.459	0.12632	T	0.002	0.09854	B	0.026	0.20792	B	0.052743	0.22868	N	0.525817	1	0.08975	N	0.345	0.11182	N	-0.34	0.68474	T	0.21	0.04776	N	0.21	0.23380	-1.0138	0.25720	T	0.073	0.29419	T	10	0.007684499	0.00175	T	0.012719	0.31538	T	0.054	0.15330	0.339	0.32979	0.166414681773	0.16258	0.3220683058182097	0.32119	0.0593736532177	0.06593	0.248930960894	0.03655	T	0.053454	0.29448	T	-0.597813	0.00150	T	-0.631501	0.10301	T	0.00529313091275535	0.00057	T	0.672333	0.28093	T	0.058870483	0.11895	0.034599736	0.02555	0.058870483	0.11895	0.034599736	0.02555	-4.214	0.26954	T	.	.	0.168	0.37063	B	.	.	0.108745	0.05085	1.623	0.59658119888000238	0.06276	0.04133	0.09614	N	AEFBI	0.072485	0.14468	N	-1.48074510491322	0.01986	0.08722397	-1.50994360474112	0.02267	0.1040074	0.0115164754669255	0.12196	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	-6.0	0.02021	-0.836000	0.04489	-2.700000	0.03453	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.2611:0.1658:0.1926:0.3804	0.392	0.00383	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	985.33	33	chr16	12705045	.	C	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.19;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1274	18	0	1	0
chr16	14447062	14447062	C	T	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon22:c.G1552A:p.V518I,PARN:NM_001134477:exon23:c.G1507A:p.V503I,PARN:NM_002582:exon23:c.G1690A:p.V564I	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	431	1041	48	2	0	52	0.0243674	.	.	.	429763	not_provided|Dyskeratosis_congenita,_autosomal_recessive_6|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|not_specified	MedGen:C3661900|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353|MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0073	0.00599042	0.0092	0.0011	0.0038	0	0.0020	0.0106	0.0090	0.0199	0.0090361	1397	154602	rs35722504	0.0094	0.0094	0.0091	0.0097	0.0175	0.0092	0.0092	0.0166	0.0163	0.0012	0.0037	0.0210	5.039e-05	0.0019	0.0175	0.0096	0.0102	0.0173	0.0067	0.0067	0.0069	0.0066	0.0203	0.0064	0.0063	0.0170	0.0158	0.0017	0	0.0066	0.0193	0	0.0015	0.0170	0.0095	0.0099	0.0203	0.079	0.38863	T	0.212	0.26714	T	0.006	0.13644	B	0.006	0.12133	B	0.044615	0.01935	N	2.052200	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.42	0.14193	N	0.054	0.06322	-0.9948	0.31352	T	0.063	0.26065	T	9	0.002854675	0.00046	T	.	.	.	0.119	0.33137	.	.	0.193865811164	0.18958	0.0963495934639145	0.09566	0.110193835077	0.12434	0.251484751701	0.03926	T	0.021653	0.16823	T	-0.615878	0.00117	T	-0.643162	0.09441	T	0.00869064704499961	0.00107	T	0.650635	0.26150	T	0.038499925	0.05140	0.05202924	0.08493	0.036931377	0.04637	0.04864813	0.07268	-4.677	0.36381	T	.	.	0.070	0.04806	B	.;.;.;.	.;.;.;.	1.351161	0.17589	13.25	0.98114141245208752	0.38375	0.11818	0.16881	N	AEFDBI	0.033924	0.04112	N	-0.586871005853647	0.19342	1.011559	-0.481498412176652	0.22663	1.232	0.999999520260864	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.41	4.45	0.53365	0.727000	0.25667	0.255000	0.16475	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.998000	0.85391	0.0:0.8472:0.1528:0.0	13.809	0.62745	923	0.18507	.;.;.;.	.	.	.	.	rs35722504	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014617	0.010101	0.006793	0.002924	0.200000	0.025862	0.027607	0.022727	0.05263	1473.83	38	chr16	14447062	.	C	T	1473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=766;ExcessHet=0.119;FS=0.671;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.244;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/0:133,0:133:32:0,32,2784	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1221:.	11	0	8	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1294.52	71	chr16	14667711	.	C	CTGGG	1294.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:87:.:.:0,87,1315:.	16	0	3	0
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGA:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1294.52	71	chr16	14667711	.	C	CGGGA	1294.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:87:.:.:0,87,1315:.	18	0	1	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1294.52	71	chr16	14667711	.	C	CGGGG	1294.52	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:87:.:.:0,87,1315:.	15	0	4	0
chr16	14725929	14725929	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A689G:p.Y230C,NPIPA2:NM_001277324:exon8:c.A689G:p.Y230C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00827337580303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299805043	0.0005	0.0010	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	8.699e-05	0.0009	0	0.0002	0.0044	0.0006	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0004	0.0003	0.0002	0.0001	9.206e-05	5.54e-05	0	0	0	0	0	0.0038	0	0.0003	0.0024	0	0.074	0.34800	T	0.091	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.45	0.56446	T	-5.15	0.83357	D	0.106	0.10056	-0.9979	0.30507	T	0.096	0.36185	T	8	0.15152997	0.28640	T	0.008273	0.21903	T	0.083	0.24192	0.755	0.88484	0.156986980423	0.15292	0.015506281202926301	0.01506	.	.	.	.	.	0.075955	0.35303	T	-0.291105	0.09525	T	-0.655928	0.08545	T	0.0918252496806488	0.11432	T	0.732627	0.34815	T	0.20463446	0.42580	0.2767948	0.53627	0.20463446	0.42580	0.2767948	0.53626	-3.251	0.13114	T	.	.	0.198	0.42067	B	.;.	.;.	0.143692	0.05369	1.853	0.27413583510277256	0.01360	0.00063	0.00458	N	AEFI	0.018832	0.00602	N	-1.19712075733494	0.05044	0.2290148	-1.34101504802424	0.03912	0.1834952	1.3741280706041E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.659	-1.15	0.09211	-1.081000	0.03514	-3.102000	0.03059	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.54	26	chr16	14725929	.	A	G	95.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=298;ExcessHet=0;FS=0;InbreedingCoeff=-0.0352;MLEAC=1;MLEAF=0.026;MQ=23.68;MQRankSum=0.086;QD=4.78;ReadPosRankSum=-0.33;SOR=0.197	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	18	0	1	0
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T,NPIPA2:NM_001277324:exon8:c.T770C:p.I257T	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.45	17	chr16	14726010	.	T	C	33.45	.	AC=2;AF=0.083;AN=24;DP=303;ExcessHet=0;FS=0;InbreedingCoeff=0.2802;MLEAC=2;MLEAF=0.083;MQ=49.24;QD=16.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr16	14895568	14895568	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon31:c.G3592A:p.G1198S,NOMO1:NM_014287:exon31:c.G3592A:p.G1198S	.	459	1058	5	0	0	5	0.00235738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00907083542345	0.0015	0.000199681	0.0012	0.0005	0.0002	0	0.0009	0.0018	0	0.0006	0.0002689	7	26028	rs139332780	0.0010	0.0017	0.0010	0.0010	0.0015	0.0010	0.0010	0.0011	0.0011	0.0001	0.0002	0.0013	0	0.0006	0.0015	0.0012	0.0008	0.0007	0.0009	0.0011	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0012	0.0004	0	6.533e-05	0.0014	0	0.0006	0	0.0016	0.0009	0	0.442	0.09209	T	0.129	0.37173	T	0.814	0.45487	P	0.084	0.29270	B	0.000144	0.49130	D	0.135750	0.995877	0.42900	D	-0.55	0.02420	N	0.91	0.44856	T	-0.79	0.21860	N	0.114	0.44952	-1.0364	0.18419	T	0.039	0.16892	T	10	0.01821217	0.00394	T	0.009071	0.23869	T	0.131	0.35738	.	.	0.234412748748	0.23057	0.47455732527731487	0.47374	.	.	0.839969575405	0.88090	D	0.006169	0.13458	T	-0.437624	0.01335	T	-0.426021	0.30387	T	0.0720483884215355	0.08936	T	0.949005	0.80370	D	0.07603423	0.17170	0.0763388	0.16897	0.07603423	0.17170	0.0763388	0.16897	-3.266	0.13302	T	.	.	0.083	0.14523	B	.;.;.	.;.;.	3.401619	0.47146	22.4	0.98860475316522922	0.47459	0.90139	0.51084	D	AEFDI	0.735214	0.68110	D	-0.29378377949484	0.29388	1.629242	-0.236956949069367	0.30223	1.699863	5.61278852036121E-5	0.04171	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	2.99	2.99	0.33673	5.508000	0.66725	11.535000	0.93106	0.306000	0.19039	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.0:1.0:0.0	11.815	0.51480	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001678	0.000000	0.001374	0.004310	0.000000	0.008772	0.000000	0.000000	0.02632	994.33	42	chr16	14895568	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=939;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.62;MQRankSum=-2.555;QD=4.56;ReadPosRankSum=-0.513;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	18	0	1	0
chr16	15363711	15363711	C	0	exonic	NPIPA5	.	.	.	.	475	864	156	18	9	201	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5464.38	121	chr16	15363711	.	C	*	5464.38	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.868;DP=1286;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=0.535;QD=8.45;ReadPosRankSum=-0.732;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr16	15363716	15363716	G	0	exonic	NPIPA5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32.88	121	chr16	15363716	.	G	*	32.88	.	AC=2;AF=0.056;AN=36;DP=1289;ExcessHet=0;FS=8.372;InbreedingCoeff=0.528;MLEAC=2;MLEAF=0.056;MQ=35.94;QD=0.25;SOR=1.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	16	0	2	1
chr16	15370063	15370063	A	C	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon3:c.T249G:p.D83E,NPIPA5:NM_001351200:exon3:c.T249G:p.D83E	.	572	945	4	1	0	6	0.00316456	.	.	.	3547464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	.	.	.	0.0059	0	0	0	0	0.0107	0	0	0.0004226	11	26028	rs201129860	0.0057	0.0057	0.0057	0.0056	0.0079	0.0055	0.0055	0.0064	0.0063	0.0009	0.0037	0.0064	0	0.0005	0.0079	0.0065	0.0047	0.0024	0.0043	0.0043	0.0044	0.0041	0.0068	0.0040	0.0039	0.0063	0.0061	0.0010	0	0.0055	0.0065	0	0.0008	0.0071	0.0068	0.0029	0.0009	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.31	0.66127	M	0.25	0.59449	T	-3.15	0.69593	D	0.14	0.13911	-0.7851	0.56013	T	0.317	0.68620	T	7	0.009825617	0.00221	T	.	.	.	0.115	0.32236	0.645	0.78224	0.27715347029	0.27323	0.0013212619015821074	0.00122	1.74787393537	0.90976	.	.	.	0.096318	0.39799	T	-0.469246	0.00859	T	-0.460046	0.26594	T	0.0522938508676767	0.05898	T	0.845215	0.52386	T	0.47684568	0.65709	0.40533915	0.64937	0.47684568	0.65709	0.40533915	0.64937	-3.0	0.10663	T	.	.	0.568	0.67543	P	.;.;.	.;.;.	1.272577	0.16714	12.72	0.98096997404131547	0.38238	0.06650	0.12668	N	AEFI	0.049694	0.08611	N	-0.241142760789112	0.31458	1.764158	-0.55294531657547	0.20728	1.118075	1.6562970298374E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.777000	0.26379	-0.736000	0.07640	0.209000	0.17967	0.843000	0.30332	0.000000	0.08366	0.016000	0.10718	.	.	.	721	0.55360	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1052.33	33	chr16	15370063	.	A	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.783;DP=738;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.54;MQRankSum=0.39;QD=9.48;ReadPosRankSum=1.03;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1373	18	0	1	0
chr16	15596896	15596896	T	C	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon27:c.A5026G:p.I1676V,MARF1:NM_001184999:exon27:c.A5017G:p.I1673V,MARF1:NM_014647:exon27:c.A5026G:p.I1676V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0041752519708	0.0003	.	0.0003	0.0007	0	0	0	1.505e-05	0	0.0019	0.0002587	40	154602	rs200132242	0.0002	0.0002	8.863e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0.0002	6.759e-05	0	0	0	0	4.504e-06	0.0002	0.0023	0.0001	0.0001	0.0001	0.0001	0.0014	7.569e-05	6.275e-05	0.0007	0.0005	0.0002	0	6.533e-05	0	0	0	0	0	0	0.0014	0.818	0.03307	T	0.751	0.05184	T	.	.	.	.	.	.	0.576738	0.11183	N	0.809781	0.999999	0.08975	N	-0.205	0.04094	N	.	.	.	-0.02	0.07736	N	0.026	0.00527	-0.9783	0.35390	T	0.021	0.08870	T	9	0.0046242476	0.00096	T	0.004175	0.10026	T	0.032	0.07718	.	.	0.0675242888579	0.06100	0.09242847042393551	0.09174	0.415858212878	0.42230	0.243236243725	0.03089	T	0.010866	0.09766	T	-0.645454	0.00077	T	-0.705474	0.05532	T	0.00258499998072591	0.00027	T	0.613939	0.23413	T	0.014090814	0.00080	0.020113058	0.00119	0.014090814	0.00080	0.020113058	0.00119	-2.247	0.04275	T	.	.	0.055	0.00861	B	.;.;.;.	.;.;.;.	0.080786	0.04871	1.459	0.73968702239655226	0.10521	0.02125	0.06275	N	AEFGBI	0.022203	0.01081	N	-1.2083617233199	0.04877	0.2210597	-1.13118249086771	0.07110	0.3446573	0.997264112884212	0.35436	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	4.06	-0.365	0.11924	-0.037000	0.12116	0.443000	0.18445	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.851000	0.40252	0.0:0.3122:0.1865:0.5013	4.152	0.09711	669	0.61081	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	907.33	33	chr16	15596896	.	T	C	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=645;ExcessHet=0;FS=1.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.023;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr16	15608289	15608289	A	C	splicing	MARF1	NM_014647:exon21:c.4182+2T>G;NM_001184999:exon21:c.4173+2T>G;NM_001184998:exon21:c.4182+2T>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.013e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.62e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226396	0.76381	D	0.0874256	0.76073	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.880593	0.80035	27.2	0.99249930435919897	0.56825	0.93745	0.59070	D	AEFGBCI	.	.	.	1.1020985799721	0.98172	17.59691	0.939101774359612	0.97063	15.53408	0.999999999994994	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.117559	0.03655	0	0.970338	0.72592	5.87	5.87	0.94266	8.582000	0.90577	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	1.0:0.0:0.0:0.0	16.269	0.82430	668	0.61153	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	45.02	43	chr16	15608289	.	A	C	45.02	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.419;DP=963;ExcessHet=0;FS=74.615;InbreedingCoeff=-0.1206;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=2.68;SOR=4.85	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1211	13	0	1	5
chr16	15621779	15621779	C	G	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon12:c.G2593C:p.V865L,MARF1:NM_001184999:exon12:c.G2584C:p.V862L,MARF1:NM_014647:exon12:c.G2593C:p.V865L	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	0.0046	0.0105831	0.0082	0.0015	0.0023	0.0204	0.0097	0.0042	0.0078	0.0254	0.0074385	1150	154602	rs35438466	0.0050	0.0050	0.0044	0.0057	0.0226	0.0049	0.0049	0.0217	0.0214	0.0015	0.0038	0.0093	0.0152	0.0118	0.0031	0.0030	0.0068	0.0226	0.0053	0.0053	0.0043	0.0063	0.0261	0.0050	0.0049	0.0224	0.0210	0.0013	0	0.0107	0.0089	0.0125	0.0102	0.0102	0.0032	0.0166	0.0261	0.036	0.43393	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	.	.	.	-1.9	0.44852	N	0.736	0.77319	-0.1834	0.78095	T	0.425	0.76890	T	9	0.009193301	0.00208	T	.	.	.	0.503	0.78538	.	.	0.709639334322	0.70710	0.6914425524909832	0.69084	1.40444009116	0.85281	0.590798377991	0.51606	T	0.102653	0.41057	T	0.0218328	0.54630	T	0.277509	0.86991	D	0.0101726885343758	0.00137	T	0.977602	0.92384	D	0.35712343	0.57617	0.33515644	0.59333	0.35712343	0.57617	0.33515644	0.59332	-10.954	0.79477	D	.	.	0.733	0.77306	P	.;.;.;.	.;.;.;.	4.668810	0.74591	26.2	0.99840118404017464	0.92057	0.98956	0.89144	D	AEFBI	0.813579	0.73601	D	0.848405812616768	0.89018	9.801898	0.829563911154343	0.91767	11.05757	0.999999999999976	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	7.141000	0.76920	7.694000	0.65937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	19.896	0.96962	664	0.61548	RNA recognition motif domain|RNA recognition motif domain|Marf1, RNA recognition motif 2;RNA recognition motif domain|RNA recognition motif domain|Marf1, RNA recognition motif 2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	1722.33	38	chr16	15621779	.	C	G	1722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.743;DP=759;ExcessHet=0;FS=3.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.147;SOR=0.481	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1405	18	0	1	0
chr16	15696822	15696822	A	T	exonic	NDE1	.	nonsynonymous SNV	NDE1:NM_017668:exon8:c.A909T:p.R303S,NDE1:NM_001143979:exon9:c.A909T:p.R303S	Lissencephaly 4 (with microcephaly), Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	429776	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.0070883514405	.	0.00119808	0.0005	0	0	0	0	0	0	0.0039	0.0004657	72	154602	rs538373943	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	2.987e-05	0	0	0	0	0.0007	3.597e-06	0.0003	0.0032	0.0001	0.0001	7.712e-05	0.0001	0.0031	7.089e-05	5.746e-05	0.0019	0.0016	0	0	6.545e-05	0	0	0	0.0034	0	0	0.0031	0.242	0.17584	T	0.857	0.05663	T	0.002	0.09854	B	0.003	0.08700	B	0.015222	0.28305	N	0.412983	0.999999	0.08975	N	0.805	0.20218	L	.	.	.	0.95	0.01509	N	0.199	0.22486	-0.9881	0.33077	T	0.068	0.27980	T	9	0.004129559	0.00081	T	0.007088	0.18786	T	0.051	0.14325	0.458	0.52427	0.194818534648	0.19098	0.40627632247168693	0.40543	0.0829935287975	0.09363	0.310200691223	0.11937	T	0.041592	0.25909	T	-0.491282	0.00639	T	-0.479942	0.24452	T	0.0166482436122529	0.00424	T	0.849515	0.58433	T	0.051304705	0.09400	0.058235094	0.10727	0.052860986	0.09919	0.06417428	0.12823	-3.729	0.19747	T	.	.	0.164	0.46238	B	.;.;.;.;.	.;.;.;.;.	0.525375	0.08943	5.722	0.66330036007358506	0.08027	0.25576	0.22740	N	AEFDBI	0.137880	0.25900	N	-1.4368682715203	0.02322	0.102395	-1.5078236834773	0.02283	0.1047737	0.463946100715928	0.20648	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	-6.0	0.02021	0.031000	0.13598	0.156000	0.15349	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2971:0.1078:0.5951:0.0	13.300	0.59757	319	0.87030	NUDE domain;NUDE domain;NUDE domain;NUDE domain;NUDE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1761.33	34	chr16	15696822	.	A	T	1761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.931;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1352	18	0	1	0
chr16	15715019	15715019	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon40:c.G5676C:p.E1892D,MYH11:NM_022844:exon40:c.G5676C:p.E1892D,MYH11:NM_001040113:exon41:c.G5697C:p.E1899D,MYH11:NM_001040114:exon41:c.G5697C:p.E1899D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	0	1497	25	0	0	25	0.00828089	.	.	.	142061	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_aneurysm,_familial_thoracic_4|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.562	.	0.0052	0.00339457	0.0051	0.0013	0.0079	0	0.0062	0.0065	0.0055	0.0025	0.0051681	799	154602	rs113964173	0.0057	0.0057	0.0057	0.0057	0.0163	0.0056	0.0055	0.0136	0.0126	0.0021	0.0069	0.0054	2.519e-05	0.0059	0.0163	0.0061	0.0068	0.0027	0.0050	0.0050	0.0051	0.0049	0.0079	0.0047	0.0046	0.0068	0.0063	0.0024	0.0011	0.0079	0.0061	0.0002	0.0061	0.0306	0.0061	0.0090	0.0017	0.002	0.72154	D	0.035	0.52389	D	0.884	0.48618	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.245	0.89746	M	-1.21	0.78645	T	-2.65	0.57110	D	0.656	0.67564	0.037	0.82994	D	0.494	0.80811	T	10	0.013423175	0.00285	T	.	.	.	0.562	0.82061	0.385	0.40460	0.836330520374	0.83477	0.3254021080093631	0.32453	0.679322545901	0.59932	0.713986098766	0.69171	T	0.700237	0.91362	D	-0.229723	0.16685	T	-0.0970664	0.63625	T	0.0381361471002338	0.03355	T	0.948505	0.80194	D	0.6787482	0.76902	0.6146772	0.77573	0.69713414	0.77901	0.551593	0.74072	-7.906	0.60428	D	.	.	0.372	0.62152	A	.;.;.;.	.;.;.;.	3.755913	0.53860	23.4	0.99839129645069391	0.91972	0.91549	0.53762	D	AEFDBCI	0.719763	0.67054	D	0.380813121273696	0.60382	4.226598	0.274670842489353	0.54065	3.572653	0.280145057627384	0.18980	0.700653	0.57754	0	0.572659	0.20510	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.76	1.09	0.19517	2.622000	0.46092	0.203000	0.15874	0.587000	0.30956	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.6481:0.0:0.3519	9.194	0.36379	308	0.87611	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.020202	0.017663	0.023392	0.000000	0.025862	0.000000	0.000000	0.02632	1394.33	35	chr16	15715019	.	C	G	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.712;SOR=0.692	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr16	15737469	15737469	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3273C:p.E1091D,MYH11:NM_022844:exon25:c.G3273C:p.E1091D,MYH11:NM_001040113:exon26:c.G3294C:p.E1098D,MYH11:NM_001040114:exon26:c.G3294C:p.E1098D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.235808601679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.121e-06	0.0006	2.735e-06	5.52e-06	5.418e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.418e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.042	0.50809	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.17	0.88688	M	-2.03	0.85613	D	-2.65	0.56787	D	0.606	0.62611	0.430	0.89548	D	0.701	0.89720	D	10	0.6764679	0.71021	D	0.235809	0.88472	D	0.654	0.86986	0.698	0.83499	0.779133547495	0.77709	0.4116602736475309	0.41082	0.679322545901	0.59932	0.714547514915	0.69252	T	0.706525	0.91594	D	0.131727	0.67530	D	-0.0485592	0.67121	D	0.992635309696198	0.83166	D	0.973153	0.90356	D	0.7353764	0.80028	0.68017244	0.81208	0.7353764	0.80030	0.68017244	0.81209	-6.584	0.50930	T	.	.	0.308	0.54235	B	.;.;.;.	.;.;.;.	3.630536	0.51428	23.1	0.99853434718816803	0.93279	0.92177	0.55116	D	AEFDBI	0.386356	0.46675	N	0.525207924041628	0.68586	5.237489	0.447231713618172	0.64537	4.71138	0.697865859038821	0.22662	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	3.34	0.37357	0.651000	0.24559	0.378000	0.17749	-0.181000	0.10308	0.998000	0.41325	0.992000	0.31684	0.970000	0.54328	0.0:0.8076:0.0:0.1924	9.306	0.37035	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	60.14	45	chr16	15737469	.	C	G	60.14	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.822;DP=761;ExcessHet=0;FS=38.031;InbreedingCoeff=-0.1241;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.9;SOR=5.548	GT:AD:DP:GQ:PL	0/0:40,0:40:70:0,70,1107	13	0	1	5
chr16	15737471	15737471	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3271C:p.E1091Q,MYH11:NM_022844:exon25:c.G3271C:p.E1091Q,MYH11:NM_001040113:exon26:c.G3292C:p.E1098Q,MYH11:NM_001040114:exon26:c.G3292C:p.E1098Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	465984	Aortic_aneurysm,_familial_thoracic_4	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.818	0.453135833294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.909e-05	1.363e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.998	0.73220	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.63	0.94006	H	-1.86	0.84341	D	-2.65	0.56787	D	0.679	0.68863	0.772	0.94066	D	0.780	0.92537	D	10	0.8477385	0.83944	D	0.453136	0.94379	D	0.818	0.94162	0.704	0.84054	0.821746563002	0.82006	0.5016766647590112	0.50089	0.712031157995	0.61752	0.707606196404	0.68246	T	0.707871	0.91643	D	0.210846	0.74909	D	0.0650889	0.74583	D	0.997660279273987	0.92113	D	0.940673	0.77758	D	0.7682959	0.81945	0.71175104	0.82994	0.7682959	0.81947	0.71175104	0.82995	-9.7	0.74014	D	.	.	0.489	0.65815	A	.;.;.;.	.;.;.;.	4.911205	0.80804	27.4	0.99850700137799431	0.93013	0.99129	0.91652	D	AEFDBI	0.906975	0.86041	D	0.811101436078604	0.86797	9.001683	0.734437195816277	0.84992	8.448989	0.999999999587014	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	7.848000	0.85199	7.617000	0.62147	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.277	0.82473	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	39.56	49	chr16	15737471	.	C	G	39.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.937;DP=803;ExcessHet=0;FS=20.6;InbreedingCoeff=-0.0713;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.88;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:74:.:.:0,74,1207:.	15	0	1	3
chr16	15737472	15737472	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3270C:p.E1090D,MYH11:NM_022844:exon25:c.G3270C:p.E1090D,MYH11:NM_001040113:exon26:c.G3291C:p.E1097D,MYH11:NM_001040114:exon26:c.G3291C:p.E1097D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0282583756542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33418	T	0.41	0.16522	T	0.01	0.15535	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-1.18	0.78314	T	-2.21	0.49684	N	0.322	0.36254	-0.7168	0.59619	T	0.356	0.71850	T	10	0.23374903	0.40399	T	0.028258	0.50961	D	0.376	0.69443	0.412	0.44887	0.74463304876	0.74233	0.2015355364436243	0.20070	0.605065792399	0.55414	0.702425003052	0.67495	T	0.530742	0.83757	D	0.0088194	0.52864	T	-0.225108	0.52245	T	0.922700703144073	0.58298	D	0.922508	0.71813	D	0.2151929	0.43946	0.24089086	0.49473	0.2151929	0.43945	0.24089086	0.49472	-6.86	0.53004	T	.	.	0.157	0.39596	B	.;.;.;.	.;.;.;.	2.404336	0.30891	18.58	0.99191852609168241	0.54994	0.87608	0.47203	D	AEFDBI	0.358912	0.44942	N	-0.558698588241648	0.20212	1.063838	-0.498624891933992	0.22191	1.204151	0.326326864178837	0.19438	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	0.011	0.13405	0.058000	0.14178	0.575000	0.19646	-0.187000	0.09635	0.911000	0.31706	0.998000	0.33993	0.981000	0.58702	0.0:0.5122:0.0:0.4878	8.920	0.34763	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	35.73	51	chr16	15737472	.	C	G	35.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.781;DP=799;ExcessHet=0;FS=20.315;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.01;SOR=4.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:96:.:.:0,96,1213:.	17	0	1	1
chr16	15737474	15737474	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3268C:p.E1090Q,MYH11:NM_022844:exon25:c.G3268C:p.E1090Q,MYH11:NM_001040113:exon26:c.G3289C:p.E1097Q,MYH11:NM_001040114:exon26:c.G3289C:p.E1097Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0839038385692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.343	0.20228	T	0.915	0.50599	P	0.836	0.59919	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-1.16	0.78082	T	-2.37	0.52289	N	0.516	0.54671	0.189	0.85714	D	0.597	0.85618	D	10	0.45931077	0.59186	T	0.083904	0.74213	D	0.437	0.74164	0.415	0.45380	0.7208298908	0.71836	0.21485147953102357	0.21401	0.654683913023	0.58537	0.692424356937	0.66054	T	0.551094	0.84802	D	0.0921384	0.63428	D	-0.105426	0.62973	T	0.976864159107208	0.71575	D	0.945705	0.79334	D	0.4581414	0.64555	0.36118817	0.61547	0.4581414	0.64555	0.36118817	0.61547	-9.222	0.69972	D	.	.	0.295	0.54861	B	.;.;.;.	.;.;.;.	4.753457	0.76773	26.6	0.99845744150841143	0.92576	0.98174	0.80243	D	AEFDBI	0.755370	0.69496	D	0.613258267699215	0.74011	6.060975	0.57321252384673	0.73025	5.903538	0.999985179771473	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	6.080000	0.70936	7.617000	0.62147	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.277	0.82473	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.63	59	chr16	15737474	.	C	G	38.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.176;DP=814;ExcessHet=0;FS=20.6;InbreedingCoeff=-0.0395;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=2.06;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:50:.:.:0,50,1181:.	18	0	1	0
chr16	15740124	15740124	G	A	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon23:c.C2924T:p.T975M,MYH11:NM_022844:exon23:c.C2924T:p.T975M,MYH11:NM_001040113:exon24:c.C2945T:p.T982M,MYH11:NM_001040114:exon24:c.C2945T:p.T982M	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	538093	Aortic_aneurysm,_familial_thoracic_4|Visceral_myopathy_2|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2|Connective_tissue_disorder|MYH11-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350|MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351|MONDO:MONDO:0003900,MedGen:C0009782|.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.544	0.34474033221	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs763795192	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	9.89e-06	3.88e-06	5.974e-05	0	0	0	0	0.0002	9.892e-06	1.656e-05	1.159e-05	3.286e-05	3.284e-05	3.853e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.964	0.55854	D	0.77	0.56828	P	0.033733	0.24861	N	0.418766	0.999769	0.48888	D	2.845	0.82663	M	-0.76	0.73417	T	-3.52	0.68412	D	0.301	0.35620	0.195	0.85830	D	0.527	0.82389	D	10	0.43032354	0.57447	T	0.34474	0.92110	D	0.544	0.81018	0.326	0.30873	0.681506863636	0.67879	0.2754952731888177	0.27462	0.520677912175	0.49859	0.621449708939	0.55934	T	0.719614	0.92065	D	-0.0959989	0.37087	T	-0.0962371	0.63688	T	0.77514374256134	0.44751	D	0.90371	0.66210	D	0.17077819	0.37672	0.32076684	0.58029	0.17077819	0.37672	0.32076684	0.58029	-8.721	0.67626	D	.	.	0.170	0.46203	B	.;.;.;.	.;.;.;.	4.701753	0.75451	26.3	0.99821537402461513	0.90414	0.97738	0.76776	D	AEFDGBI	0.875514	0.79897	D	0.653418977002224	0.76593	6.514718	0.601055623922103	0.75017	6.236633	0.999551605264585	0.40362	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	7.848000	0.85199	9.737000	0.81421	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	15.751	0.77750	341	0.85936	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	33	chr16	15740124	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=765;ExcessHet=0;FS=2.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.57;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr16	15741657	15741657	T	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon22:c.A2665C:p.K889Q,MYH11:NM_022844:exon22:c.A2665C:p.K889Q,MYH11:NM_001040113:exon23:c.A2686C:p.K896Q,MYH11:NM_001040114:exon23:c.A2686C:p.K896Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	340756	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_4	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.587	0.318223942998	.	.	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002135	33	154602	rs762308378	0.0001	0.0001	7.897e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	0.0001	0.0023	4.596e-05	4.593e-05	2.57e-05	6.714e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.005	0.74150	D	0.937	0.52445	P	0.234	0.38393	B	0.000001	0.62929	D	0.054595	1	0.81001	D	3.11	0.87757	M	-0.95	0.75438	T	-3.26	0.65397	D	0.469	0.50508	0.398	0.89066	D	0.547	0.83360	D	10	0.0703738	0.10228	T	0.318224	0.91394	D	0.587	0.83471	0.362	0.36711	0.837114270717	0.83556	0.39162752227168746	0.39077	0.809008634224	0.66657	0.54133617878	0.44634	T	0.762572	0.93580	D	-0.281896	0.10467	T	-0.183559	0.56191	T	0.370356492551083	0.27811	T	0.933007	0.74900	D	0.73820144	0.80189	0.66981095	0.80629	0.70185286	0.78159	0.62288576	0.78027	-12.792	0.89047	D	.	.	0.407	0.62650	A	.;.;.;.	.;.;.;.	5.059114	0.84316	28.3	0.99486424360818182	0.67180	0.98785	0.86822	D	AEFDBI	0.800576	0.72652	D	0.60049223675225	0.73205	5.928438	0.558902833325888	0.72019	5.744303	0.999998461554044	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.95	4.95	0.64894	6.174000	0.71864	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.788	0.62608	343	0.85802	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1851.33	34	chr16	15741657	.	T	G	1851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.488;DP=733;ExcessHet=0;FS=3.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.497;SOR=0.381	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1383	18	0	1	0
chr16	16131856	16131856	G	A	exonic	ABCC1	.	nonsynonymous SNV	ABCC1:NM_004996:exon27:c.G3887A:p.R1296Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	3185108	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.408	0.133244530802	0.0002	.	0.0003	0.0001	0.0003	0	0.0002	0.0004	0.0011	0	0.0002135	33	154602	rs201761081	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0.0002	0.0026	0	3.744e-05	0.0029	0.0001	0.0004	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	7.896e-05	9.622e-05	0	0.0001	0.0043	0	0	0.0068	0.0002	0.0005	0.0002	0.488	0.08042	T	0.656	0.06598	T	0.016	0.17332	B	0.02	0.19048	B	0.001530	0.38731	N	0.211286	0.83891	0.52935	D	1.09	0.27330	L	-2.69	0.90451	D	-1.22	0.30964	N	0.268	0.30347	0.289	0.87385	D	0.698	0.89583	D	10	0.018219054	0.00394	T	0.133245	0.81561	D	0.408	0.72022	.	.	0.715847506518	0.71335	0.6538008895151833	0.65316	0.392240705154	0.40407	0.29978966713	0.10369	T	0.053311	0.29409	T	-0.152556	0.27912	T	-0.162078	0.58165	T	0.0256046760377467	0.01352	T	0.928707	0.73770	D	0.068600565	0.14958	0.05779455	0.10569	0.068600565	0.14958	0.05779455	0.10568	-6.355	0.49157	T	.	.	0.067	0.04806	B	.;.	.;.	3.074949	0.41348	21.3	0.97655213198774571	0.35160	0.44394	0.27309	N	AEFBI	0.180348	0.30765	N	-0.558653739518662	0.20214	1.063923	-0.4924851936484	0.22359	1.214096	0.713292021662012	0.22845	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	4.15	0.47978	0.838000	0.27225	4.314000	0.42978	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.981000	0.58702	0.0786:0.0:0.9214:0.0	13.074	0.58488	884	0.28482	ABC transporter-like;ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.001359	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	2023.33	38	chr16	16131856	.	G	A	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=804;ExcessHet=0;FS=3.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.124;SOR=0.461	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	18	0	1	0
chr16	16161554	16161554	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon25:c.G3517A:p.A1173T,ABCC6:NM_001351800:exon25:c.G3175A:p.A1059T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0755619342257	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047104008	1.026e-05	1.026e-05	4.084e-06	1.65e-05	5.038e-05	6.16e-06	4.89e-06	8.35e-06	5.03e-06	0	0	0	5.038e-05	0	0	1.169e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.252	0.17014	T	0.242	0.24264	T	0.003	0.11197	B	0.007	0.12992	B	0.389529	0.13275	N	0.635267	1	0.08975	N	-0.235	0.03917	N	-2.61	0.89953	D	0.08	0.06026	N	0.288	0.32591	-0.8124	0.54405	T	0.307	0.67813	T	10	0.13434768	0.25568	T	0.075562	0.72318	D	0.175	0.44197	0.637	0.77361	0.417843521124	0.41399	0.4262098673152567	0.42537	0.0658519436626	0.07348	0.253313183784	0.04125	T	0.142549	0.47820	T	-0.0816458	0.39446	T	-0.355055	0.38625	T	0.060183160007	0.07198	T	0.647135	0.42483	T	0.047675908	0.08188	0.07119939	0.15218	0.047675908	0.08187	0.07119939	0.15218	-1.783	0.02459	T	0.05808015466182695	0.01450	0.073	0.11893	B	.;.	.;.	-0.537445	0.01750	0.132	0.91252363744783171	0.20511	0.04242	0.09766	N	AEFBI	0.147125	0.27073	N	-1.27365537874144	0.03995	0.179542	-1.32392205619653	0.04123	0.1938075	0.0025978333299017	0.09558	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.56	-5.49	0.02381	0.046000	0.13919	-0.179000	0.11150	-0.204000	0.08590	0.003000	0.16062	0.000000	0.08366	0.175000	0.21139	0.1219:0.1534:0.1227:0.602	3.445	0.07047	900	0.24599	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	752.33	35	chr16	16161554	.	C	T	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=700;ExcessHet=0;FS=3.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.248;SOR=0.352	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1202	18	0	1	0
chr16	16177571	16177571	A	G	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon19:c.T2471C:p.I824T,ABCC6:NM_001351800:exon19:c.T2129C:p.I710T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0998638552522	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976737187	5.472e-06	5.472e-06	4.084e-06	6.875e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.096	0.39340	T	0.081	0.24602	B	0.434	0.45506	B	0.878831	0.07222	U	1.097080	0.592438	0.32468	D	2.015	0.55033	M	-0.36	0.68754	T	-3.33	0.66206	D	0.309	0.34874	-0.4282	0.71125	T	0.478	0.80002	T	10	0.43807924	0.57923	T	0.099864	0.77178	D	0.409	0.72099	0.531	0.63855	0.815200526847	0.81345	0.6989783104279258	0.69838	0.374517623559	0.38912	0.315728604794	0.12774	T	0.513026	0.82822	D	-0.00634109	0.50775	T	-0.246885	0.50125	T	0.917972981929779	0.57604	D	0.911709	0.68653	D	0.6634523	0.76083	0.3846807	0.63403	0.6634523	0.76085	0.3846807	0.63403	-6.99	0.53961	T	0.3408810388560385	0.43861	0.181	0.39339	B	.	.	2.870671	0.37961	20.6	0.99597181170563409	0.73983	0.96607	0.69990	D	AEFBI	0.815337	0.73734	D	0.142773114980081	0.48471	3.05892	0.173377823911534	0.48394	3.055837	0.999789518729955	0.43007	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	4.533000	0.60328	7.025000	0.57281	0.754000	0.88378	1.000000	0.71638	0.981000	0.30433	0.340000	0.25432	1.0:0.0:0.0:0.0	13.788	0.62610	883	0.28872	ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1007.33	36	chr16	16177571	.	A	G	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.953;DP=810;ExcessHet=0;FS=4.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.382;SOR=1.244	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1021,0,1181	18	0	1	0
chr16	16190259	16190259	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon12:c.G1540A:p.V514I,ABCC6:NM_001351800:exon12:c.G1198A:p.V400I	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1501	19	2	0	23	0.00760331	.	.	.	427008	Autosomal_recessive_inherited_pseudoxanthoma_elasticum|ABCC6-related_disorder|not_provided|not_specified|Pseudoxanthoma_elasticum,_forme_fruste|Arterial_calcification,_generalized,_of_infancy,_2	MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.033046240668	0.0005	0.000399361	0.0010	0.0005	0.0016	0	0	0.0006	0	0.0032	0.000912	141	154602	rs59157279	0.0007	0.0007	0.0006	0.0008	0.0102	0.0007	0.0007	0.0081	0.0074	0.0002	0.0016	0.0025	0	0	0.0102	0.0004	0.0012	0.0033	0.0005	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0003	0	0.0008	0.0037	0	0	0.0068	0.0005	0.0014	0.0017	0.181	0.21884	T	0.29	0.21011	T	0.166	0.28547	B	0.09	0.29851	B	0.104366	0.19706	U	0.347007	0.99507	0.42533	D	0.63	0.15941	N	-2.36	0.88143	D	-0.63	0.18459	N	0.151	0.15469	-0.5378	0.67247	T	0.458	0.78941	T	10	0.012797385	0.00274	T	0.033046	0.54705	D	0.163	0.42028	.	.	0.546908861191	0.54346	0.5153553782072774	0.51458	0.0645801275031	0.07206	0.338811844587	0.16260	T	0.197894	0.55470	T	-0.38013	0.03110	T	-0.322172	0.42336	T	0.00753238957622457	0.00087	T	0.660434	0.26965	T	0.053384278	0.10094	0.051525753	0.08311	0.044016052	0.06964	0.0441372	0.05651	-5.171	0.39476	T	0.1380891702148715	0.15249	0.079	0.07083	B	.;.	.;.	1.427865	0.18454	13.75	0.98217761430772799	0.39272	0.58761	0.30729	D	AEFBCI	0.127042	0.24424	N	-0.591675811368094	0.19197	1.002777	-0.565475637671921	0.20396	1.098663	0.819202841281706	0.24493	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	0.159	0.14256	1.654000	0.36950	-0.239000	0.10608	0.598000	0.34611	0.994000	0.38300	0.000000	0.08366	0.128000	0.19490	0.0:0.6097:0.132:0.2583	7.399	0.26125	889	0.27310	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.008560	0.010101	0.010870	0.023392	0.000000	0.000000	0.003049	0.007576	0.02632	2080.33	35	chr16	16190259	.	C	T	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.177;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	18	0	1	0
chr16	16387483	16387483	C	T	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.C277T:p.R93C,NPIPA8:NM_001282511:exon4:c.C277T:p.R93C	.	694	826	2	0	0	2	0.00120919	.	.	.	3184981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00875808216996	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879335983	0.0065	0.0061	0.0066	0.0064	0.0078	0.0063	0.0063	0.0075	0.0074	0.0033	0.0025	0.0018	0.0011	0.0123	0.0014	0.0078	0.0064	0.0021	0.0061	0.0077	0.0064	0.0058	0.0089	0.0057	0.0056	0.0081	0.0079	0.0042	0	0.0016	0.0021	0.0012	0.0072	0.0051	0.0089	0.0052	0.0031	0.092	0.31682	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.57880	T	-3.52	0.68412	D	0.081	0.05670	-0.8069	0.54736	T	0.152	0.48014	T	3	0.02321887	0.00601	T	0.008758	0.23123	T	0.055	0.15663	.	.	0.51627217869	0.51271	0.001988041619261028	0.00183	.	.	.	.	.	0.069164	0.33640	T	-0.202264	0.20478	T	-0.528315	0.19454	T	0.0198883281656491	0.00690	T	0.69823	0.30825	T	0.07649338	0.17303	0.15223034	0.35825	0.07649338	0.17303	0.15223034	0.35824	-5.443	0.41331	T	.	.	.	.	.	.	.	1.952723	0.24801	16.53	0.99104339194856017	0.52546	0.00795	0.03245	N	AEFI	0.052986	0.09509	N	-0.646675792504876	0.17557	0.9044596	-0.845333259352164	0.13400	0.6949161	1.09537333666636E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.641000	0.24411	-0.226000	0.10719	0.084000	0.17577	0.993000	0.37899	0.000000	0.08366	0.014000	0.10232	.	.	.	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	161.35	23	chr16	16387483	.	C	T	161.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=23.81;MQRankSum=-1.979;QD=6.72;ReadPosRankSum=0.299;SOR=0.33	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	18	0	1	0
chr16	17108919	17108919	C	A	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon12:c.G2656T:p.A886S	Desbuquois dysplasia 2, Autosomal recessive	422	1064	32	3	1	39	0.0175439	.	.	.	714761	Desbuquois_dysplasia_1|not_provided	MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	7.7e-05	0.00359425	0.0027	0	0.0004	0	0	0.0003	0.0033	0.0182	0.0022768	352	154602	rs143481827	0.0012	0.0013	0.0007	0.0018	0.0173	0.0012	0.0012	0.0165	0.0162	9.01e-05	0.0005	0.0011	0	0	0.0051	0.0002	0.0015	0.0173	0.0006	0.0006	0.0005	0.0007	0.0139	0.0005	0.0005	0.0112	0.0103	9.631e-05	0	0.0002	0.0009	0	9.423e-05	0	0.0002	0	0.0139	0.23	0.18308	T	0.648	0.06788	T	0.15	0.27995	B	0.05	0.25278	B	0.000011	0.62929	D	0.148046	0.990808	0.41240	D	0.755	0.19153	N	3.56	0.04696	T	-0.67	0.19297	N	0.04	0.01347	-1.0114	0.26478	T	0.016	0.06569	T	10	0.0033008754	0.00057	T	.	.	.	0.097	0.27909	.	.	0.043077524339	0.03247	0.3574249685875818	0.35656	0.220247512809	0.24564	0.314023703337	0.12516	T	0.016125	0.13389	T	-0.594183	0.00158	T	-0.612654	0.11770	T	0.0229536096569432	0.01018	T	.	.	.	0.11340939	0.26784	0.079967186	0.18048	0.11340939	0.26783	0.079967186	0.18047	-3.691	0.19185	T	.	.	0.070	0.03661	B	.	.	1.804173	0.22934	15.82	0.97959810732574015	0.37165	0.68094	0.33673	D	AEFBCI	0.417601	0.48558	N	-0.402364478951305	0.25386	1.37768	-0.304166737494666	0.27964	1.555531	0.557709494384123	0.21387	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.81	3.87	0.43823	2.082000	0.41230	2.278000	0.31877	-0.172000	0.11096	0.523000	0.27135	0.980000	0.30356	0.993000	0.69303	0.0:0.8611:0.0:0.1389	12.041	0.52750	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007049	0.005051	0.008152	0.002924	0.000000	0.008621	0.006098	0.011364	0.02632	2119.33	34	chr16	17108919	.	C	A	2119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=735;ExcessHet=0;FS=3.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.219;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1011:.	18	0	1	0
chr16	17158871	17158871	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon6:c.G1328A:p.R443Q	Desbuquois dysplasia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0544793944826	0.0002	.	2.471e-05	9.61e-05	0	0	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs146405799	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	2.987e-05	6.708e-05	0	0.0001	0	0	0.0001	6.623e-05	4.637e-05	3.288e-05	3.284e-05	2.57e-05	4.04e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.015	0.52492	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	2.79	0.11189	T	-3.75	0.71157	D	0.554	0.57946	-0.8282	0.53416	T	0.123	0.42462	T	10	0.5620652	0.64843	D	0.054479	0.65870	D	0.304	0.62510	.	.	0.165150595986	0.16160	0.774030310542611	0.77353	0.527487013363	0.50356	0.746685743332	0.73957	T	0.176258	0.52613	T	-0.213122	0.18942	T	-0.352229	0.38951	T	0.913739383220673	0.57011	D	.	.	.	0.73744905	0.80146	0.5053002	0.71407	0.73744905	0.80148	0.5053002	0.71407	-10.514	0.76927	D	.	.	0.100	0.17103	B	.	.	5.544596	0.91997	32	0.99957484154859799	0.99986	0.91369	0.53395	D	AEFBHCI	0.683173	0.64594	D	0.826377898203831	0.87726	9.318581	0.746857284605998	0.85922	8.727303	0.99999999999878	0.74766	0.615465	0.37627	0	0.68618	0.66647	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	3.899000	0.56000	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.417	0.87396	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1176.33	34	chr16	17158871	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.912;DP=714;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.09;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr16	18324497	18324497	A	C	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.T194G:p.V65G,NPIPA8:NM_001282511:exon4:c.T194G:p.V65G	.	766	727	19	10	0	39	0.0261219	0.0004	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	0.00339457	0.0124	0	0	0	0	0.0168	0.1	0.0106	0.0006531	17	26028	rs562309429	0.0057	0.0057	0.0047	0.0065	0.0198	0.0055	0.0054	0.0188	0.0184	0.0009	0.0030	0.0112	0	0.0011	0.0184	0.0041	0.0057	0.0198	0.0041	0.0041	0.0038	0.0044	0.0213	0.0037	0.0035	0.0164	0.0147	0.0013	0	0.0021	0.0115	0	0.0006	0.0225	0.0042	0.0067	0.0213	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-4.81	0.80767	D	0.497	0.53006	-0.6936	0.60740	T	0.178	0.52350	T	3	0.014665723	0.00308	T	.	.	.	0.175	0.44197	.	.	0.302459207581	0.29844	0.019284102858280108	0.01882	.	.	.	.	.	0.091902	0.38892	T	-0.332444	0.05928	T	-0.26354	0.48469	T	0.0654364969637405	0.07995	T	.	.	.	0.5432569	0.69578	0.5640874	0.74772	0.5432569	0.69580	0.5640874	0.74773	-3.675	0.18950	T	.	.	0.375	0.59606	A	.;.	.;.	2.277649	0.29118	18.02	0.97365626384824433	0.33598	0.03196	0.08188	N	AEFI	0.057269	0.10653	N	0.124761660474647	0.47620	2.985151	-0.308007490123161	0.27839	1.547661	1.10566401661356E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.741000	0.25870	-0.174000	0.11198	0.232000	0.18153	0.998000	0.41325	0.000000	0.08366	0.052000	0.15357	.	.	.	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	872.44	18	chr16	18324497	.	A	C	872.44	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.3;DP=530;ExcessHet=0.1336;FS=0.909;InbreedingCoeff=-0.0625;MLEAC=2;MLEAF=0.059;MQ=29.92;MQRankSum=1.47;QD=11.95;ReadPosRankSum=-0.231;SOR=0.899	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,509	15	0	2	2
chr16	18859592	18859592	G	A	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon27:c.C3917T:p.P1306L	.	424	1084	12	2	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0113490704153	0.0018	0.000798722	0.0026	0.0001	0.0014	0.0004	0.0002	0.0042	0.0069	0.0010	0.0013907	215	154602	rs200385870	0.0018	0.0019	0.0018	0.0018	0.0044	0.0018	0.0017	0.0030	0.0026	0.0002	0.0007	0.0145	0.0002	1.877e-05	0.0044	0.0018	0.0019	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0017	0.0016	0.0003	0	0.0011	0.0107	0	9.464e-05	0	0.0020	0.0028	0.0006	0.214	0.19361	T	.	.	.	0.017	0.17573	B	0.004	0.10090	B	0.065297	0.21891	N	0.323747	0.974728	0.25475	N	0.345	0.11182	N	5.38	0.01079	T	-0.24	0.10833	N	0.442	0.48042	-0.9078	0.47121	T	0.002	0.00769	T	10	0.0029993951	0.00049	T	0.011349	0.28886	T	0.051	0.14325	.	.	0.232442253697	0.22838	0.3240860240167392	0.32321	0.299420063141	0.32310	0.482888817787	0.36455	T	0.022056	0.17072	T	-0.523727	0.00418	T	-0.531859	0.19101	T	0.00194363568584072	0.00020	T	0.911409	0.68582	D	0.07307961	0.16304	0.03350142	0.02255	0.07307961	0.16304	0.03350142	0.02255	-3.15	0.11879	T	.	.	0.099	0.16494	B	.;.	.;.	2.324213	0.29769	18.23	0.73046706820286789	0.10188	0.67689	0.33524	D	AEFBI	0.174255	0.30137	N	-0.708603451613109	0.15780	0.7982314	-0.601931842491161	0.19444	1.043204	2.55394060325851E-4	0.06190	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	4.59	2.3	0.27735	3.446000	0.52692	6.337000	0.55470	-0.281000	0.06419	0.999000	0.42656	1.000000	0.68203	0.483000	0.28633	0.0:0.0795:0.1538:0.7667	7.155	0.24808	176	0.93188	PIK-related kinase;PIK-related kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003539	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1019.33	33	chr16	18859592	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.9;MQRankSum=2.26;QD=10.84;ReadPosRankSum=-2.467;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr16	19067678	19067678	-	GGC	exonic	COQ7	.	nonframeshift insertion	COQ7:NM_001370490:exon1:c.14_15insGGC:p.A9_P10insA,COQ7:NM_016138:exon1:c.14_15insGGC:p.A9_P10insA	.	0	225	1	0	0	1	0.00221729	.	.	.	1271376	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0061	0.00698882	0.0020	0.0209	0.0016	0.0001	0	0.0002	0.0012	0	0.0001537	4	26028	rs531281193	0.0008	0.0008	0.0009	0.0007	0.0234	0.0008	0.0007	0.0221	0.0215	0.0234	0.0019	0	5.043e-05	1.9e-05	0.0012	0.0002	0.0015	4.643e-05	0.0069	0.0069	0.0070	0.0067	0.0235	0.0065	0.0064	0.0223	0.0218	0.0235	0	0.0031	0	0	0	0.0034	0.0002	0.0028	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001042	0.010526	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	800.29	34	chr16	19067678	.	G	GGGC	800.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=657;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-1.005;SOR=0.869	GT:AD:DP:GQ:PL	0/0:41,0:41:90:0,90,1350	18	0	1	0
chr16	19114722	19114724	CTC	-	exonic	ITPRIPL2	.	nonframeshift deletion	ITPRIPL2:NM_001034841:exon1:c.261_263del:p.S89del	.	427	1060	34	1	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00579073	0.0074	0.0004	0.0018	0	0.0160	0.0086	0.0123	0.0107	0.00073	19	26028	rs534424977	0.0070	0.0070	0.0068	0.0071	0.0103	0.0068	0.0068	0.0097	0.0095	0.0008	0.0021	0.0158	0	0.0145	0.0099	0.0067	0.0081	0.0103	0.0055	0.0055	0.0053	0.0058	0.0126	0.0052	0.0051	0.0101	0.0092	0.0008	0.0011	0.0042	0.0170	0	0.0113	0.0103	0.0072	0.0038	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007560	0.005102	0.004076	0.005848	0.050000	0.000000	0.009146	0.011364	0.02632	2325.29	35	chr16	19114721	.	TCTC	T	2325.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=746;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.854;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1037	18	0	1	0
chr16	19309028	19309028	C	G	exonic	CLEC19A	.	nonsynonymous SNV	CLEC19A:NM_001256720:exon5:c.C506G:p.T169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870753	0.28210	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11349395	0.21324	T	.	.	.	.	.	.	.	.	.	0.20559373636065106	0.20476	.	.	0.310850739479	0.12036	T	.	.	.	.	.	.	.	.	.	.	.	.	0.475352	0.14216	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22537	B	.	.	0.952321	0.13286	9.786	0.7385282109635436	0.10479	0.39160	0.26150	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0152047572176831	0.12686	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0557263	0.13060	4.61	2.63	0.30420	1.269000	0.32677	0.325000	0.17225	-0.872000	0.02536	0.991000	0.37257	0.041000	0.21590	0.772000	0.36596	0.0:0.6297:0.2215:0.1488	8.49	0.32255	917	0.20147	C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like|CEL-1-like C-type lectin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	39	chr16	19309028	.	C	G	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=776;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.279;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	18	0	1	0
chr16	19456878	19456878	G	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon1:c.G172C:p.V58L	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0184716012957	0.0029	0.00139776	0.0033	0.0003	0.0007	0	0.0050	0.0050	0.0044	0.0007	0.0032535	503	154602	rs148716221	0.0042	0.0042	0.0042	0.0042	0.0054	0.0041	0.0041	0.0046	0.0045	0.0004	0.0013	0.0143	0	0.0036	0.0054	0.0047	0.0033	0.0008	0.0030	0.0030	0.0029	0.0031	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0039	0.0181	0	0.0026	0.0034	0.0039	0.0019	0.0025	0.6	0.05635	T	0.733	0.05109	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.19	0.04947	N	0.077	0.05162	-1.0230	0.22736	T	0.106	0.38587	T	9	0.00557822	0.00123	T	0.018472	0.40544	T	0.016	0.02506	.	.	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.630081	0.00095	T	-0.676616	0.07192	T	0.0013078764114417	0.00013	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-2.966	0.09819	T	.	.	0.087	0.10979	B	.	.	-0.101045	0.03634	0.722	0.85946810061934309	0.16214	0.01925	0.05876	N	AEFBI	0.058377	0.10948	N	-1.38344818759726	0.02793	0.1238391	-1.3631786860953	0.03653	0.170846	0.00586523105539814	0.11064	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.76	1.45	0.21708	-0.294000	0.08346	-0.031000	0.12795	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4362:0.5638	8.156	0.30332	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1767.33	33	chr16	19456878	.	G	C	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=768;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.8;SOR=0.565	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1321	18	0	1	0
chr16	19481431	19481431	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon11:c.G1591A:p.V531I,TMC5:NM_001308161:exon14:c.G2173A:p.V725I,TMC5:NM_001105248:exon15:c.G2329A:p.V777I,TMC5:NM_001105249:exon15:c.G2329A:p.V777I,TMC5:NM_001261841:exon15:c.G2329A:p.V777I	.	.	.	.	.	.	.	.	.	.	.	2401225	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0346653771666	.	0.000199681	3.295e-05	0	8.64e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs200637158	2.737e-05	2.805e-05	1.906e-05	3.575e-05	0.0001	2.063e-05	1.816e-05	3.983e-05	2.373e-05	0.0001	8.944e-05	0.0003	5.038e-05	0	0	1.799e-05	4.968e-05	0	7.223e-05	7.874e-05	5.141e-05	9.4e-05	9.626e-05	3.969e-05	3.126e-05	3.243e-05	1.911e-05	9.626e-05	0	6.54e-05	0.0006	0	0	0	5.88e-05	0	0	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000004	0.62929	D	0.061494	0.999622	0.49076	D	1.84	0.48285	L	-0.41	0.69413	T	-0.99	0.26200	N	0.569	0.59223	-0.1653	0.78542	T	0.445	0.78179	T	10	0.41818434	0.56684	T	0.034665	0.55831	D	0.439	0.74306	.	.	0.750264353821	0.74800	0.6320366922052337	0.63137	0.515532960109	0.49461	0.537605404854	0.44107	T	0.044771	0.33090	T	-0.0149659	0.49568	T	-0.0335722	0.68131	D	0.405401557683945	0.29145	T	0.962504	0.85970	D	0.23829743	0.46705	0.2294408	0.48016	0.23829743	0.46705	0.2294408	0.48015	-9.829	0.74858	D	.	.	0.164	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.062597	0.84388	28.3	0.99848233507398532	0.92750	0.97235	0.73490	D	AEFDGBHCI	0.898510	0.84187	D	0.719094685780687	0.80884	7.394337	0.676090125109605	0.80566	7.32765	0.999999999999251	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.38	4.42	0.52775	8.779000	0.91433	9.753000	0.81480	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.08:0.0:0.92:0.0	13.005	0.58101	579	0.69780	TMC domain;.;TMC domain;TMC domain;.;.;TMC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2346.33	39	chr16	19481431	.	G	A	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=823;ExcessHet=0;FS=6.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.703;SOR=1.131	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2360,0,2323	18	0	1	0
chr16	19669186	19669186	A	G	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon24:c.A1969G:p.S657G,VPS35L:NM_001365294:exon25:c.A2047G:p.S683G,VPS35L:NM_001365293:exon26:c.A2170G:p.S724G,VPS35L:NM_020314:exon27:c.A2248G:p.S750G,VPS35L:NM_001365295:exon28:c.A1360G:p.S454G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0120831541518	.	.	8.243e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs781713958	4.799e-06	4.788e-06	4.09e-06	5.516e-06	0.0003	2e-06	1.28e-06	6.099e-05	2.524e-05	0	2.238e-05	0	0	0	0.0003	2.704e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.145	0.33000	T	0.003	0.11197	B	0.006	0.12133	B	0.000002	0.62929	N	0.160814	0.773244	0.34176	D	.	.	.	0.77	0.49642	T	-2.48	0.54059	N	0.239	0.34874	-0.9706	0.37073	T	0.097	0.36315	T	9	0.16902834	0.31487	T	0.012083	0.30328	T	0.072	0.21020	0.333	0.32005	0.516547797517	0.51297	0.3100665600917129	0.30919	0.210394736995	0.23529	.	.	.	0.090184	0.38532	T	-0.161234	0.26572	T	-0.386513	0.34959	T	0.325473470904242	0.26042	T	0.841716	0.54193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	2.817709	0.37108	20.4	0.99364979135562326	0.61198	0.93464	0.58287	D	AEFBI	0.655662	0.62792	D	-0.195405462936879	0.33325	1.889376	-0.0272086473775845	0.38491	2.26845	0.281287868749608	0.18991	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.51	4.39	0.52211	4.098000	0.57478	4.076000	0.41702	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.917000	0.45243	0.9296:0.0:0.0704:0.0	11.701	0.50837	676	0.60355	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	407.33	33	chr16	19669186	.	A	G	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.818;DP=656;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.76;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	18	0	1	0
chr16	20032082	20032082	T	C	exonic	GPR139	.	nonsynonymous SNV	GPR139:NM_001002911:exon2:c.A715G:p.T239A,GPR139:NM_001318483:exon3:c.A436G:p.T146A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00496538912371	0.0003	0.000599042	0.0007	0.0002	0.0003	0	0	0.0003	0.0011	0.0030	0.0005692	88	154602	rs143674735	0.0008	0.0008	0.0007	0.0009	0.0038	0.0008	0.0007	0.0035	0.0034	0.0001	0.0002	3.826e-05	0	0	0.0014	0.0007	0.0008	0.0038	0.0004	0.0004	0.0005	0.0003	0.0019	0.0003	0.0003	0.0010	0.0007	0.0002	0	0.0001	0.0003	0	0	0	0.0006	0.0005	0.0019	.	.	.	0.02	0.58613	D	0.001	0.07471	B	0.003	0.08700	B	0.000512	0.43753	N	0.236636	0.621927	0.32713	D	-0.69	0.01958	N	1.28	0.35960	T	.	.	.	0.07	0.04307	-0.9837	0.34140	T	0.082	0.32148	T	9	0.014321417	0.00301	T	0.004965	0.12504	T	.	.	.	.	0.698373489644	0.69576	0.549041339075561	0.54830	0.37326657118	0.38796	0.47767919302	0.35737	T	0.047132	0.27631	T	-0.56952	0.00223	T	-0.59453	0.13276	T	0.0124757559339403	0.00205	T	0.679032	0.28770	T	0.08369523	0.19338	0.108953565	0.26251	0.08369523	0.19338	0.108953565	0.26251	-2.541	0.06068	T	.	.	0.068	0.02927	B	.	.	2.167939	0.27628	17.53	0.97428426961868908	0.33916	0.86088	0.45304	D	AEFBI	0.279285	0.39337	N	-0.281707782003	0.29854	1.659355	-0.0661520958784801	0.36799	2.146227	0.0034972999322235	0.10145	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.62	4.53	0.55009	3.025000	0.49365	1.134000	0.24350	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0749:0.0:0.9251	10.643	0.44796	788	0.46569	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1857.33	41	chr16	20032082	.	T	C	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=860;ExcessHet=0;FS=1.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.526;SOR=0.785	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr16	20317233	20317233	G	A	exonic	GP2	.	nonsynonymous SNV	GP2:NM_001007242:exon7:c.C955T:p.L319F,GP2:NM_001007241:exon8:c.C964T:p.L322F,GP2:NM_001502:exon8:c.C1396T:p.L466F,GP2:NM_001007240:exon9:c.C1405T:p.L469F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0448895255778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.16466	T	0.693	0.25748	T	0.0	0.02946	B	0.001	0.13708	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	-1.59	0.82076	D	-1.23	0.31170	N	0.167	0.21969	-0.9105	0.46793	T	0.236	0.60282	T	9	0.09668049	0.17360	T	0.04489	0.61710	D	0.168	0.42943	0.421	0.46365	0.331619326243	0.32766	0.3476557141131042	0.34679	0.156681609038	0.17693	0.23840777576	0.02649	T	0.305252	0.67751	T	-0.209962	0.19384	T	-0.539373	0.18359	T	0.0518757333466779	0.05825	T	0.0525947	0.00376	T	0.037008733	0.04663	0.038518228	0.03738	0.037008733	0.04663	0.038518228	0.03738	-3.117	0.12863	T	.	.	0.085	0.11269	B	.;.;.;.	.;.;.;.	-0.839151	0.01032	0.043	0.90798038513687807	0.20047	0.02007	0.06042	N	AEFDBI	0.133173	0.25274	N	-1.46148614946181	0.02128	0.09363472	-1.56979677598441	0.01843	0.0839745	0.992174832387324	0.32745	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	-10.9	0.00151	-1.680000	0.02040	-2.462000	0.03724	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1393:0.2766:0.2279:0.3562	1.868	0.03007	826	0.39940	.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1401.33	34	chr16	20317233	.	G	A	1401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.655;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.403;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	18	0	1	0
chr16	20346184	20346184	C	T	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon5:c.G1124A:p.R375Q,UMOD:NM_001378234:exon5:c.G1124A:p.R375Q,UMOD:NM_001378235:exon5:c.G1124A:p.R375Q,UMOD:NM_003361:exon5:c.G1124A:p.R375Q,UMOD:NM_001278614:exon6:c.G1223A:p.R408Q,UMOD:NM_001378232:exon6:c.G1124A:p.R375Q,UMOD:NM_001378233:exon6:c.G1124A:p.R375Q,UMOD:NM_001378237:exon6:c.G1124A:p.R375Q	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	0	1506	16	0	0	16	0.00528402	.	.	.	703545	not_provided|Familial_juvenile_hyperuricemic_nephropathy_type_1	MedGen:C3661900|MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	0.0683601995499	0.0005	0.00139776	0.0008	0	0.0003	0	0	0.0003	0.0066	0.0036	0.0006727	104	154602	rs151061376	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0035	0.0001	0.0010	0.0013	0	0	0.0056	0.0003	0.0006	0.0029	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	4.808e-05	0	0.0005	0.0026	0	0	0.0034	0.0002	0.0014	0.0023	0.253	0.20381	T	0.292	0.24264	T	0.104	0.25941	B	0.036	0.22909	B	0.051904	0.22940	N	0.309092	0.99997	0.18612	N	0.625	0.15840	N	-1.59	0.82076	D	-0.35	0.12847	N	0.172	0.24260	-0.8347	0.52996	T	0.238	0.60559	T	10	0.010872722	0.00240	T	0.06836	0.70429	D	0.097	0.27909	.	.	0.372993862945	0.36913	0.42573792019316464	0.42490	0.145579570331	0.16448	0.268536508083	0.05950	T	.	.	.	-0.440334	0.01288	T	-0.408336	0.32417	T	0.0150915128853855	0.00327	T	0.644935	0.25655	T	0.07107321	0.15706	0.06944995	0.14635	0.07107321	0.15706	0.06944995	0.14634	-2.481	0.05653	T	0.13877010277427015	0.15383	0.088	0.11845	B	.;.;.;.	.;.;.;.	2.229180	0.28453	17.80	0.94449044805868143	0.24878	0.04307	0.09857	N	AEFBI	0.078467	0.15833	N	-0.66869644954916	0.16917	0.8661519	-0.680521341231634	0.17448	0.9278165	1.16367304598893E-5	0.02871	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.85	0.019	0.13439	0.471000	0.21811	0.819000	0.21831	0.549000	0.26987	0.984000	0.35821	0.017000	0.20586	0.122000	0.19250	0.0:0.5681:0.0:0.4319	7.712	0.27847	840	0.37365	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1339.33	34	chr16	20346184	.	C	T	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.653;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	18	0	1	0
chr16	20359459	20359459	C	G	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon12:c.G1615C:p.E539Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00214406773171	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756352839	6.156e-06	6.156e-06	4.084e-06	8.25e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.139	0.33666	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	3.68	0.04151	T	-0.51	0.15986	N	0.094	0.07398	-0.9335	0.43620	T	0.010	0.03537	T	9	0.059050262	0.07038	T	0.002144	0.03989	T	0.012	0.01476	0.183	0.09131	0.162503812791	0.15892	0.2064135948974241	0.20558	0.0643614342175	0.07174	0.329471468925	0.14854	T	0.002875	0.02268	T	-0.463853	0.00930	T	-0.807215	0.01729	T	0.0231854248190812	0.01045	T	0.39886	0.10126	T	0.04613176	0.07671	0.032236286	0.01928	0.04613176	0.07670	0.032236286	0.01928	-4.325	0.28526	T	.	.	0.084	0.09820	B	.	.	0.070221	0.04788	1.401	0.84347785142654219	0.15239	0.03168	0.08142	N	AEFBI	0.039532	0.05757	N	-1.2028066851834	0.04959	0.2249634	-1.24891027139745	0.05147	0.2445619	1.57587437427235E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.42	-1.58	0.08029	0.080000	0.14657	-0.069000	0.12322	-2.133000	0.00380	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3694:0.3233:0.3073	4.227	0.10038	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1862.33	35	chr16	20359459	.	C	G	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.449;SOR=0.69	GT:AD:DP:GQ:PL	0/1:103,72:175:99:1876,0,2498	18	0	1	0
chr16	20384735	20384735	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A319G:p.K107E	.	427	1076	18	1	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0049431137013	0.0005	0.000798722	0.0012	0	0.0011	0	0.0003	0.0011	0.0022	0.0036	0.0010931	169	154602	rs139688634	0.0009	0.0009	0.0007	0.0010	0.0191	0.0008	0.0008	0.0162	0.0151	0.0002	0.0013	0.0013	0	0	0.0191	0.0006	0.0012	0.0040	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0004	0.0018	0.0014	9.629e-05	0	0.0005	0.0009	0	0	0.0170	0.0008	0.0005	0.0029	0.345	0.12511	T	0.072	0.43344	T	0.961	0.55431	D	0.819	0.59018	P	0.001728	0.38161	N	0.284743	0.974566	0.25484	N	1.09	0.27330	L	3.95	0.18875	T	-1.53	0.37178	N	0.274	0.31027	-1.0083	0.27448	T	0.017	0.06998	T	10	0.0080643	0.00183	T	0.004943	0.12442	T	0.104	0.29647	.	.	0.325263233342	0.32141	0.49038648215426794	0.48958	0.133627313775	0.15044	0.423970341682	0.28383	T	6.23E-4	0.16872	T	-0.443081	0.01240	T	-0.410704	0.32143	T	0.0784542778503305	0.09788	T	0.569643	0.21054	T	0.12892067	0.30125	0.14558943	0.34524	0.12892067	0.30125	0.14558943	0.34523	-3.332	0.14153	T	.	.	0.086	0.44410	B	.;.	.;.	2.519330	0.32554	19.08	0.99812969193351664	0.89620	0.61836	0.31601	D	AEFBI	0.121827	0.23667	N	0.110386437295783	0.46945	2.927373	0.104223637928419	0.44765	2.751894	0.272334465486678	0.18905	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	4.33	0.51083	1.079000	0.30378	0.829000	0.21929	0.665000	0.62972	1.000000	0.71638	0.699000	0.26222	0.808000	0.38083	0.0:0.0919:0.0:0.9081	7.827	0.28482	809	0.43032	Thioredoxin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.005435	0.023392	0.000000	0.017241	0.006098	0.003788	0.02632	1683.33	33	chr16	20384735	.	T	C	1683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.249;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	18	0	1	0
chr16	20475380	20475380	A	G	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308169:exon6:c.A676G:p.I226V,ACSM2A:NM_001308172:exon7:c.A913G:p.I305V,ACSM2A:NM_001308954:exon8:c.A913G:p.I305V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0205	.	0.0059	0.0654	0.0014	0	0	0.0002	0.0011	0	3.84e-05	1	26028	rs144701679	0.0009	0.0012	0.0010	0.0008	0.0345	0.0009	0.0009	0.0328	0.0321	0.0345	0.0010	0	0	0	0.0014	7.556e-05	0.0015	5.798e-05	0.0007	0.0029	0.0007	0.0007	0.0024	0.0006	0.0005	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	1.47e-05	0	0	0.187	0.23007	T	0.425	0.24334	T	0.033	0.20350	B	0.089	0.29769	B	0.013603	0.28787	N	0.242334	0.922771	0.27253	N	1.16	0.29674	L	1.14	0.38397	T	-0.74	0.21429	N	0.214	0.25745	-1.0247	0.22181	T	0.006	0.02206	T	10	0.0046809316	0.00098	T	.	.	.	0.038	0.09825	.	.	0.299770980665	0.29595	0.41005724260979504	0.40921	0.2436039867	0.26860	0.375413447618	0.21605	T	0.010792	0.09704	T	-0.588563	0.00171	T	-0.642834	0.09464	T	0.00139884410831569	0.00014	T	0.510949	0.16331	T	0.118559204	0.27931	0.055238094	0.09651	0.118559204	0.27931	0.055238094	0.09650	-6.809	0.52626	T	.	.	0.110	0.21163	B	.;.;.;.;.	.;.;.;.;.	0.720281	0.10892	7.566	0.46866115916345658	0.03787	0.20533	0.21076	N	AEFDGI	0.493355	0.52960	N	-1.14462486284786	0.05868	0.2686815	-1.11749531180675	0.07366	0.3580098	7.97382407126304E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.36	1.05	0.19280	0.982000	0.29137	2.263000	0.31775	-0.142000	0.12367	0.400000	0.26170	0.852000	0.27401	0.047000	0.14932	0.676:0.0:0.324:0.0	6.804	0.22949	788	0.46569	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005307	0.013889	0.009615	0.004386	0.000000	0.008772	0.000000	0.000000	0.02632	693.33	33	chr16	20475380	.	A	G	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.065;DP=814;ExcessHet=0;FS=1.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.3;MQRankSum=-6.341;QD=3.94;ReadPosRankSum=-1.179;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	0	1	0
chr16	20559281	20559281	C	G	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon3:c.G344C:p.R115P,ACSM2B:NM_182617:exon4:c.G344C:p.R115P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0100404082751	.	.	3.396e-05	0	8.857e-05	0	0	4.598e-05	0	0	4.53e-05	7	154602	rs201089298	8.827e-05	8.824e-05	9.123e-05	8.528e-05	0.0001	7.557e-05	7.103e-05	9.294e-05	8.701e-05	0	0.0001	0	0	0	0	0.0001	3.313e-05	0	7.234e-05	7.223e-05	6.429e-05	8.078e-05	0.0002	3.975e-05	3.13e-05	5.844e-05	4.24e-05	0	0	0.0002	0	0	0	0	0.0001	0	0	0.035	0.57480	D	0.001	0.83351	D	0.996	0.68779	D	0.926	0.66095	D	0.001795	0.37998	N	0.000000	0.786532	0.34332	D	3.35	0.91085	M	0.67	0.52187	T	-6.38	0.91522	D	0.528	0.55799	-0.5150	0.68102	T	0.222	0.58588	T	10	0.65588975	0.69871	D	0.01004	0.26102	T	0.251	0.56024	.	.	0.647759520205	0.64484	0.6529959174666651	0.65235	2.57236916457	0.98018	0.447156667709	0.31556	T	0.075139	0.36487	T	-0.0519246	0.44154	T	-0.0430627	0.67495	D	0.926134824752808	0.58825	D	0.69563	0.45619	T	0.7146452	0.78864	0.6927189	0.81914	0.7146452	0.78865	0.6927189	0.81915	-8.034	0.61302	D	.	.	0.605	0.69078	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.606656	0.33848	19.46	0.99472669476169184	0.66419	0.43899	0.27200	N	AEFI	0.753411	0.69361	D	0.0450550532172585	0.43916	2.675258	-0.142728458493118	0.33688	1.929718	2.31982535445587E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.51	2.55	0.29757	1.135000	0.31067	-4.810000	0.01976	0.414000	0.20733	0.590000	0.27666	0.000000	0.08366	0.394000	0.26647	0.0:0.8939:0.0:0.1061	9.856	0.40253	658	0.62094	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	910.33	37	chr16	20559281	.	C	G	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.066;DP=699;ExcessHet=0;FS=10.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.12;MQRankSum=-1.678;QD=15.97;ReadPosRankSum=0.38;SOR=0.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	18	0	1	0
chr16	20775921	20775921	G	T	exonic	ACSM3	.	nonsynonymous SNV	ACSM3:NM_005622:exon3:c.G302T:p.G101V,ACSM3:NM_202000:exon3:c.G302T:p.G101V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	0.0054	0.00379393	0.0016	0.0175	0.0005	0	0	2.997e-05	0	0	0.0014295	221	154602	rs2229242	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0178	0.0173	0.0191	0.0008	0	0	0	0.0003	1.709e-05	0.0011	1.159e-05	0.0053	0.0053	0.0054	0.0051	0.0186	0.0050	0.0049	0.0175	0.0171	0.0186	0	0.0017	0	0	0	0	0	0.0024	0	0.022	0.72154	D	0.056	0.69154	T	0.999	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.03	0.40469	T	-6.31	0.93903	D	0.685	0.72209	-0.9749	0.36148	T	0.091	0.34737	T	10	0.00990653	0.00222	T	.	.	.	0.224	0.52174	.	.	0.563544018958	0.56017	0.6842901526114302	0.68368	0.568765040297	0.53076	0.446747660637	0.31500	T	0.244903	0.61411	T	-0.384143	0.02932	T	-0.310291	0.43627	T	0.03914570388332	0.03536	T	0.854814	0.54193	D	0.74933994	0.80830	0.64270675	0.79120	0.74933994	0.80832	0.64270675	0.79121	-11.6	0.84251	D	.	.	0.326	0.61046	B	.;.;.	.;.;.	4.344384	0.66670	25.0	0.99729831865107055	0.82690	0.92919	0.56870	D	AEFBI	0.792907	0.72107	D	0.554329704165085	0.70345	5.488	0.576937804909534	0.73292	5.946387	0.84928081099439	0.25013	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.92	4.95	0.64894	3.476000	0.52907	1.016000	0.23368	0.618000	0.50648	1.000000	0.71638	0.316000	0.24298	0.988000	0.63387	0.0673:0.1225:0.8102:0.0	11.739	0.51048	143	0.94301	AMP-dependent synthetase/ligase;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	40	chr16	20775921	.	G	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.024;DP=710;ExcessHet=0;FS=1.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.359;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	18	0	1	0
chr16	20965081	20965081	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon53:c.C8665T:p.R2889W,DNAH3:NM_017539:exon53:c.C8803T:p.R2935W	.	431	1090	1	0	0	1	0.000458505	.	.	.	3247627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.0507892117698	7.7e-05	.	3.295e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs143399673	1.3e-05	1.3e-05	9.529e-06	1.65e-05	0.0001	8.31e-06	6.7e-06	5.395e-05	4.042e-05	8.961e-05	0	0	0	0	0	6.295e-06	0	0.0001	1.973e-05	1.969e-05	1.287e-05	2.69e-05	0.0002	5.25e-06	2.46e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.986	0.76916	D	0.000600	0.43095	D	0.153499	0.999981	0.81001	D	3.27	0.90083	M	-0.86	0.74477	T	-5.91	0.88904	D	0.754	0.75283	0.467	0.90070	D	0.639	0.87372	D	10	0.83439994	0.82597	D	0.050789	0.64388	D	0.463	0.75956	.	.	0.330331372229	0.32644	0.5814700044973444	0.58075	0.486442497371	0.47507	0.623100101948	0.56167	T	0.705805	0.91568	D	-0.106723	0.35311	T	-0.111642	0.62481	T	0.973226368427277	0.70010	D	0.927207	0.73169	D	0.6884802	0.77429	0.7997131	0.88252	0.6884802	0.77431	0.7997131	0.88252	-12.093	0.85301	D	.	.	0.251	0.48521	B	.	.	3.521728	0.49371	22.8	0.99844705254533483	0.92489	0.97709	0.76570	D	AEFBI	0.719521	0.67038	D	0.431338590592616	0.63154	4.543648	0.266920163651358	0.53618	3.52988	0.700010665481719	0.22688	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	4.96	0.65153	2.847000	0.47970	5.110000	0.47506	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:0.8675:0.1325	16.411	0.83549	318	0.87072	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2253.33	36	chr16	20965081	.	G	A	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.627;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1313	18	0	1	0
chr16	21031116	21031116	T	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon37:c.A5230T:p.I1744F,DNAH3:NM_017539:exon37:c.A5368T:p.I1790F	.	427	1072	22	1	0	24	0.0110701	.	.	.	2807712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.0373276557389	0.0032	0.00259585	0.0044	0.0008	0.0034	0.0001	0.0011	0.0050	0.0066	0.0084	0.0041267	638	154602	rs148202152	0.0033	0.0033	0.0030	0.0035	0.0144	0.0032	0.0032	0.0119	0.0110	0.0008	0.0040	0.0006	5.038e-05	0.0017	0.0144	0.0031	0.0038	0.0077	0.0032	0.0032	0.0033	0.0031	0.0091	0.0030	0.0029	0.0070	0.0062	0.0006	0	0.0056	0.0003	0	0.0007	0.0272	0.0044	0.0066	0.0091	0.004	0.65419	D	.	.	.	0.995	0.67487	D	0.816	0.58888	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.96	0.42888	T	-3.3	0.65858	D	0.855	0.85132	-0.4226	0.71306	T	0.219	0.58201	T	10	0.023178488	0.00599	T	0.037328	0.57547	D	0.334	0.65620	.	.	0.343788945184	0.33981	0.6633433488230847	0.66271	0.57321118132	0.53386	0.52144408226	0.41829	T	0.343599	0.71223	T	-0.159217	0.26882	T	0.00406961	0.70599	D	0.0416310597211526	0.03987	T	0.945305	0.79188	D	0.52613527	0.68610	0.47302616	0.69453	0.52613527	0.68611	0.47302616	0.69453	-8.304	0.63122	D	.	.	0.540	0.66364	A	.	.	3.442284	0.47889	22.5	0.98258083290942377	0.39639	0.96442	0.69160	D	AEFBI	0.674860	0.64044	D	0.740335135973423	0.82276	7.722354	0.70025386183693	0.82396	7.757018	0.0272882980749738	0.13764	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	2.828000	0.47822	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.865	0.78840	377	0.83897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.025253	0.004076	0.020468	0.000000	0.025862	0.015244	0.007576	0.02632	1603.33	34	chr16	21031116	.	T	A	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=775;ExcessHet=0;FS=3.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.264;SOR=0.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	18	0	1	0
chr16	21122018	21122018	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_017539:exon10:c.C1511T:p.S504F,DNAH3:NM_001347886:exon11:c.C1424T:p.S475F	.	436	1074	10	2	0	14	0.00647549	.	.	.	3185191	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.196	.	0.0039	0.00399361	0.0040	0.0008	0.0044	0.0001	0.0003	0.0055	0.0055	0.0032	0.0043725	676	154602	rs140516491	0.0058	0.0058	0.0059	0.0058	0.0090	0.0057	0.0057	0.0071	0.0066	0.0014	0.0057	0.0003	2.52e-05	0.0003	0.0090	0.0068	0.0053	0.0032	0.0040	0.0040	0.0043	0.0037	0.0073	0.0037	0.0036	0.0062	0.0058	0.0013	0	0.0073	0	0	0.0002	0.0068	0.0060	0.0062	0.0031	0.011	0.55530	D	.	.	.	0.916	0.50672	P	0.713	0.54588	P	0.047817	0.23309	N	0.449033	0.565036	0.31225	N	2.36	0.67893	M	1.78	0.25678	T	-3.56	0.68880	D	0.556	0.58117	-0.9080	0.47097	T	0.067	0.27468	T	10	0.013245195	0.00282	T	.	.	.	0.196	0.47777	.	.	0.42130639912	0.41750	0.5009426410800479	0.50016	0.181760226822	0.20427	0.391569674015	0.23891	T	0.424061	0.77462	T	-0.416422	0.01803	T	-0.359261	0.38138	T	0.0329234259363974	0.02458	T	0.766923	0.39491	T	0.26528752	0.49597	0.27358353	0.53279	0.26528752	0.49597	0.27358353	0.53278	-8.304	0.63122	D	.	.	0.331	0.55320	B	.	.	3.463164	0.48278	22.6	0.99386293601560449	0.62113	0.76493	0.37520	D	AEFBI	0.148778	0.27274	N	0.450896096621702	0.64254	4.675805	0.422413094791697	0.62963	4.521099	0.0416429066916671	0.14492	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	2.748000	0.47160	8.543000	0.77500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.0:0.8431:0.1569	13.498	0.60888	462	0.78611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.050000	0.000000	0.006098	0.022727	0.02632	1170.33	33	chr16	21122018	.	G	A	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=729;ExcessHet=0;FS=4.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.19;SOR=0.635	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1479	18	0	1	0
chr16	21198874	21198874	T	C	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376233:exon17:c.A1949G:p.H650R	.	.	.	.	.	.	.	.	0.0001	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000599042	0.0001	0	9.39e-05	0.0001	0	3.328e-05	0.0012	0.0005	0.00011	17	154602	rs200053919	6.094e-05	6.088e-05	4.36e-05	7.846e-05	0.0007	5.033e-05	4.676e-05	0.0006	0.0005	0	0	0	0.0003	0	0	4.5e-06	0.0001	0.0007	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	42	chr16	21198874	.	T	C	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=743;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.103;SOR=0.58	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr16	21402571	21402571	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	786	733	3	0	0	3	0.00204221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000999244055442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236449961	0.0010	0.0012	0.0011	0.0010	0.0026	0.0009	0.0008	0.0007	0.0006	0.0004	0.0008	0.0131	0	0	0.0026	0.0008	0.0016	0.0003	0.0018	0.0003	0.0040	0	0.0046	0	0	.	.	0	.	0	0	0	0	.	0.0046	0	.	0.547	0.06648	T	0.719	0.05363	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.6	0.17834	N	0.107	0.09207	-0.9707	0.37052	T	0.020	0.08313	T	6	0.07296324	0.10962	T	9.99E-4	0.01073	T	0.025	0.05312	.	.	0.043077524339	0.03247	0.002687802964479572	0.00249	.	.	.	.	.	.	.	.	-0.27672	0.11018	T	-0.635266	0.10018	T	0.152271747850001	0.17283	T	0.536146	0.17993	T	.	.	.	.	.	.	.	.	-5.302	0.39963	T	.	.	.	.	.	.	.	-0.405505	0.02192	0.217	0.83628506728868413	0.14831	0.00199	0.01145	N	AEFI	0.041461	0.06306	N	-1.03508614690336	0.07882	0.3677276	-1.22784383968943	0.05467	0.260559	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.896000	0.01696	-4.906000	0.01932	-1.772000	0.00663	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	59.47	9	chr16	21402571	.	C	T	59.47	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.66;DP=175;ExcessHet=0;FS=0;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.028;MQ=20.52;MQRankSum=-1.559;QD=6.61;ReadPosRankSum=2.15;SOR=0.527	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,102	17	0	1	1
chr16	21402650	21402650	G	C	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	3.953e-05	0.0003	0.0011	0.0001	0.0001	0.0008	0.0007	0	0	0	0	0	0	0	0.0001	0.0011	0	1.816e-05	0	0	.	0	0	.	.	0	.	0	.	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	129.95	24	chr16	21402650	.	G	C	129.95	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.515;DP=310;ExcessHet=0;FS=0;InbreedingCoeff=-0.0384;MLEAC=1;MLEAF=0.028;MQ=23.92;MQRankSum=-2.091;QD=6.84;ReadPosRankSum=-0.165;SOR=1.302	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,501	17	0	1	1
chr16	21403839	21403839	C	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	828	692	1	1	0	3	0.00216294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.000905793106543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368710597	0.0013	0.0031	0.0012	0.0014	0.0045	0.0011	0.0011	0.0023	0.0020	0.0045	0.0007	0	0.0003	0.0052	0	0.0011	0.0009	0.0029	0	0.0022	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	53.47	4	chr16	21403839	.	C	A	53.47	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=152;ExcessHet=0;FS=4.771;InbreedingCoeff=0.127;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-0.967;QD=17.82;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,95:.	17	0	1	1
chr16	21403840	21403840	C	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	868	652	1	1	0	3	0.00229533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000718651381275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221343527	0.0029	0.0042	0.0026	0.0031	0.0092	0.0026	0.0025	0.0058	0.0049	0.0092	0.0017	0.0017	0.0013	0.0065	0	0.0024	0.0017	0.0062	0	0.0031	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	55.04	4	chr16	21403840	.	C	A	55.04	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=147;ExcessHet=0;FS=4.771;InbreedingCoeff=0.0171;MLEAC=1;MLEAF=0.036;MQ=29.58;MQRankSum=-0.967;QD=18.35;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:3,0:3:0:.:.:0,0,33:.	13	0	1	5
chr16	21403841	21403841	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	887	633	1	1	0	3	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305431311	0.0029	0.0040	0.0026	0.0031	0.0076	0.0026	0.0025	0.0061	0.0057	0.0076	0.0020	0.0018	0.0014	0.0050	0	0.0023	0.0014	0.0071	0	0.0033	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	53.81	4	chr16	21403841	.	C	T	53.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=148;ExcessHet=0;FS=4.771;InbreedingCoeff=0.0816;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-0.967;QD=17.94;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,66:.	17	0	1	1
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	118.76	5	chr16	21404235	.	GC	G	118.76	.	AC=2;AF=1;AN=2;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.3644;MLEAC=6;MLEAF=1;MQ=22;QD=27.39;SOR=2.833	GT:AD:DP:GQ:PL	./.:3,0:3:0:0,0,0	0	1	0	18
chr16	21404652	21404652	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.000815935517244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.16e-05	7.664e-06	1.658e-05	7.24e-06	0.0001	4.17e-06	2.74e-06	4.494e-05	2.683e-05	6.609e-05	0	0	0.0001	0	0	3.324e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	175.34	7	chr16	21404652	.	C	T	175.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=29.62;MQRankSum=-1.578;QD=9.74;ReadPosRankSum=-0.235;SOR=0.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:63:.:.:0,63,843:.	18	0	1	0
chr16	21404696	21404696	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00340942577906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.827e-05	4.047e-05	4.216e-05	5.344e-05	0.0004	3.15e-05	2.66e-05	0.0002	0.0002	8.916e-05	0	0	0.0004	3.409e-05	0	3.355e-05	0	1.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	285.33	36	chr16	21404696	.	G	A	285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.5;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.53;MQRankSum=-0.714;QD=6.07;ReadPosRankSum=1.63;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,115,1365:.	18	0	1	0
chr16	21404908	21404964	GGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA	-	exonic	NPIPB3	.	unknown	UNKNOWN	.	458	1062	1	0	1	2	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.781e-05	0.0001	0.0006	0.0002	0	0	.	.	.	.	4.077e-05	0.0002	3.576e-05	4.582e-05	4.657e-05	3.211e-05	2.94e-05	2.919e-05	2.594e-05	3e-05	2.249e-05	7.685e-05	0	0	0	3.874e-05	0.0001	4.657e-05	1.376e-05	8.584e-05	1.337e-05	1.416e-05	2.987e-05	2.29e-06	8.6e-07	4.96e-06	1.86e-06	0	0	0	0	0	0	0	2.987e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2811.81	186	chr16	21404907	.	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA	G	2811.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=2152;ExcessHet=0.119;FS=0.695;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=37.65;MQRankSum=-0.013;QD=3.68;ReadPosRankSum=4.93;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,20:254:99:0|1:21404907_GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA_G:121,0,8955:21404907	18	0	1	0
chr16	21404907	21404907	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	6.916e-05	0.0001	8.781e-05	0	0	9.476e-05	0	0	0.0001921	5	26028	rs568836414	6.079e-05	0.0002	6.601e-05	5.553e-05	0.0002	5.01e-05	4.672e-05	0.0001	7.437e-05	8.999e-05	0.0002	0	0.0002	4.474e-05	0	5.045e-05	0.0001	5.82e-05	0.0001	0.0002	0.0002	9.896e-05	0.0003	8.535e-05	7.029e-05	0.0001	8.737e-05	2.579e-05	0	0.0003	0	0	0.0001	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2811.81	186	chr16	21404907	.	G	A	2811.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=2152;ExcessHet=0.119;FS=0.695;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=37.65;MQRankSum=-0.013;QD=3.68;ReadPosRankSum=4.93;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:234,0:254:99:0|1:21404907_GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCA_G:121,824,9924:21404907	18	0	1	0
chr16	21647421	21647421	C	T	exonic	IGSF6	.	nonsynonymous SNV	IGSF6:NM_005849:exon2:c.G139A:p.V47I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0237119199993	7.7e-05	0.000399361	2.472e-05	9.615e-05	0	0	0	2.999e-05	0	0	3.23e-05	5	154602	rs116192352	5.267e-05	5.267e-05	6.126e-05	4.4e-05	0.0014	4.277e-05	3.953e-05	0.0007	0.0005	5.974e-05	4.472e-05	0	0	0	0.0014	5.576e-05	3.312e-05	1.159e-05	2.629e-05	2.625e-05	2.572e-05	2.688e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.263	0.22833	T	0.358	0.46406	T	0.555	0.38231	P	0.079	0.28749	B	0.125344	0.18846	N	0.514684	1	0.18612	N	1.555	0.39373	L	-0.72	0.72994	T	-0.8	0.22078	N	0.114	0.10198	-0.9498	0.41006	T	0.188	0.53901	T	10	0.06366488	0.08329	T	0.023712	0.46682	T	0.088	0.25558	.	.	0.390842690916	0.38694	0.2927927115312831	0.29192	0.239394196151	0.26490	0.382340490818	0.22588	T	0.040931	0.25692	T	-0.33083	0.06050	T	-0.476322	0.24840	T	0.0302436426281929	0.02027	T	.	.	.	0.06921055	0.15145	0.073242314	0.15895	0.06921055	0.15145	0.073242314	0.15894	-4.627	0.32509	T	.	.	0.093	0.14385	B	.;.	.;.	0.934830	0.13100	9.605	0.96221511112520208	0.29088	0.05574	0.11474	N	ALL	0.036553	0.04890	N	-0.657395634926551	0.17246	0.8857538	-0.748973614445033	0.15748	0.8297553	0.999999994671159	0.74766	0.581397	0.33459	0	0.518115	0.08659	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.33	1.11	0.19640	0.366000	0.20099	0.877000	0.22363	0.599000	0.40250	0.001000	0.13787	0.040000	0.21562	0.152000	0.20376	0.0:0.641:0.0:0.359	8.697	0.33464	585	0.69300	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1921.33	33	chr16	21647421	.	C	T	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=839;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.898;SOR=0.558	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1378	18	0	1	0
chr16	21799684	21799684	T	C	exonic	RRN3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414525159	6.059e-06	5.261e-06	0	1.13e-05	0.0005	1.61e-06	4.5e-07	1.14e-06	4.3e-07	0	0	0	0	0	0.0005	6.84e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	137.33	36	chr16	21799684	.	T	C	137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.794;DP=492;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.1;MQRankSum=0.315;QD=6.24;ReadPosRankSum=-1.939;SOR=1.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	18	0	1	0
chr16	21836291	21836291	A	G	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.T2096C:p.L699P,NPIPB4:NM_001384979:exon8:c.T2096C:p.L699P,NPIPB4:NM_001384980:exon8:c.T2096C:p.L699P,NPIPB5:NM_001135865:exon9:c.T1955C:p.L652P,NPIPB4:NM_001384981:exon9:c.T2087C:p.L696P,NPIPB4:NM_001384982:exon9:c.T2039C:p.L680P,NPIPB3:NM_130464:exon10:c.T2081C:p.L694P	.	776	743	3	0	0	3	0.00201478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00638861724567	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189144625	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0017	0.0012	9.739e-05	0.0005	0.0003	0	0	0.0040	0.0003	0.0004	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.57	0.29342	T	0.39	0.03521	N	0.319	0.35938	-0.8904	0.48899	T	0.115	0.40740	T	5	0.1294097	0.24622	T	0.006389	0.16812	T	0.054	0.15330	0.264	0.20946	0.537125817887	0.53363	5.530172019775315E-4	0.00051	.	.	.	.	.	0.009832	0.08919	T	-0.20962	0.19432	T	-0.538881	0.18406	T	0.0930085758412992	0.11571	T	0.435556	0.11926	T	0.09086041	0.21275	0.17476292	0.39896	0.09086041	0.21274	0.17476292	0.39895	-9.939	0.73546	D	.	.	0.968	0.89054	P	.	.	1.877602	0.23851	16.17	0.97663433524977949	0.35212	0.00148	0.00897	N	AEFI	0.022220	0.01084	N	-0.38779457192018	0.25902	1.409647	-0.662687457006167	0.17897	0.9536865	1.09547697404592E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.165000	0.16380	-1.262000	0.05876	0.189000	0.17846	0.013000	0.18845	0.000000	0.08366	0.013000	0.09966	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	240.33	35	chr16	21836291	.	A	G	240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.417;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=32.03;MQRankSum=0.625;QD=10.92;ReadPosRankSum=-0.723;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1152	18	0	1	0
chr16	21847534	21847534	T	C	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.A128G:p.N43S,NPIPB4:NM_001310148:exon3:c.A128G:p.N43S,NPIPB4:NM_001384979:exon3:c.A128G:p.N43S,NPIPB4:NM_001384980:exon3:c.A128G:p.N43S,NPIPB3:NM_130464:exon3:c.A128G:p.N43S,NPIPB4:NM_001384981:exon4:c.A119G:p.N40S,NPIPB4:NM_001384982:exon4:c.A71G:p.N24S	.	465	1050	6	1	0	8	0.00379507	.	.	.	2807722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	.	0.00179712	0.0082	0	0.0118	0	0.0625	0.0113	0	0.0028	0.0001358	21	154602	rs199863058	0.0050	0.0058	0.0050	0.0049	0.0070	0.0049	0.0048	0.0053	0.0053	0.0010	0.0025	0.0150	0	0.0034	0.0070	0.0055	0.0058	0.0008	0.0042	0.0047	0.0040	0.0044	0.0057	0.0039	0.0038	0.0052	0.0050	0.0010	0	0.0048	0.0159	0	0.0057	0.0180	0.0057	0.0036	0.0005	0.006	0.63226	D	0.009	0.92824	D	0.843	0.46605	P	0.893	0.63340	P	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	-2.13	0.61435	N	0.112	0.16168	-0.5694	0.66039	T	0.198	0.55372	T	6	0.0053065717	0.00116	T	.	.	.	0.094	0.27141	.	.	0.198526703765	0.19489	0.011931017693493294	0.01153	.	.	.	.	.	0.024963	0.18762	T	-0.539092	0.00339	T	-0.54286	0.18016	T	0.0400907091728157	0.03707	T	0.888311	0.64041	D	0.10054736	0.23742	0.120550916	0.29091	0.10054736	0.23742	0.120550916	0.29090	-2.825	0.08416	T	.	.	0.216	0.44553	B	.;.;.;.;.	.;.;.;.;.	0.430060	0.08007	4.721	0.99046061366414018	0.51140	0.00390	0.01961	N	AEFI	0.061874	0.11859	N	-0.482341788067094	0.22660	1.211501	-0.780919192340417	0.14963	0.7845777	1.35027997785632E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.589	0.589	0.16636	-0.229000	0.09106	-9.545000	0.00807	-0.646000	0.04408	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1763.33	35	chr16	21847534	.	T	C	1763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.241;DP=870;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.66;MQRankSum=-2.955;QD=7.08;ReadPosRankSum=1.58;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1327	18	0	1	0
chr16	22110952	22110952	C	T	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon8:c.C647T:p.A216V	.	431	1087	4	0	0	4	0.00183655	.	.	.	2223778	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00409534822999	0.0005	0.00119808	0.0010	0.0001	0.0017	0	0	0.0015	0	0.0002	0.0006468	100	154602	rs149744090	0.0005	0.0005	0.0005	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	2.992e-05	0.0009	0.0039	2.527e-05	1.882e-05	0.0031	0.0004	0.0009	0.0002	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0012	0.0010	2.405e-05	0	0.0017	0.0017	0	0	0.0034	0.0007	0.0024	0	0.066	0.36113	T	0.103	0.38305	T	0.001	0.07471	B	0.005	0.11217	B	0.870836	0.08826	N	0.932856	1	0.20667	N	0.125	0.08623	N	3.09	0.08371	T	-1.11	0.28703	N	0.095	0.07535	-0.9332	0.43665	T	0.007	0.02244	T	10	0.007252872	0.00165	T	0.004095	0.09775	T	0.050	0.13987	.	.	0.0138822411134	0.00435	0.11190820459780138	0.11119	0.0438462141455	0.04724	0.258060157299	0.04662	T	7.99E-4	0.00383	T	-0.499743	0.00573	T	-0.563427	0.16056	T	0.00694535362926175	0.00079	T	0.59614	0.22137	T	0.017654879	0.00291	0.032229733	0.01925	0.017654879	0.00291	0.032229733	0.01925	-1.301	0.01403	T	.	.	0.082	0.08899	B	.;.;.	.;.;.	0.117811	0.05158	1.679	0.412059504214426	0.02958	0.01957	0.05941	N	AEFBI	0.035698	0.04638	N	-1.15953042177389	0.05625	0.256913	-1.09352176099317	0.07827	0.3822933	0.0010572487770863	0.08170	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.29	2.11	0.26299	0.444000	0.21376	0.285000	0.16810	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.5634:0.1713:0.2653	4.302	0.10372	407	0.82314	.;von Willebrand factor, type A;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	1528.33	33	chr16	22110952	.	C	T	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.101;DP=775;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.062;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr16	22131281	22131281	T	C	splicing	VWA3A	NM_173615:exon18:c.1727+2T>C	.	.	.	434	1087	1	0	0	1	0.00045977	0.9865	0.624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00499201	0.0010	0.0109	0.0009	0	0	1.535e-05	0	0	0.0009767	151	154602	rs80075952	0.0003	0.0003	0.0003	0.0002	0.0085	0.0002	0.0002	0.0076	0.0073	0.0085	0.0006	0	0	0	0.0005	1.619e-05	0.0007	3.48e-05	0.0030	0.0031	0.0032	0.0029	0.0101	0.0028	0.0027	0.0093	0.0090	0.0101	0	0.0022	0	0	0	0	2.941e-05	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0255798	0.48056	T	0.199875	0.83120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.845376	0.79146	27.0	0.9933783294926718	0.60051	0.91174	0.53005	D	AEFBI	.	.	.	0.990949582737244	0.95460	13.64021	0.82336574327792	0.91367	10.85159	0.168827308540147	0.17705	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.883639	0.55100	5.17	5.17	0.70848	5.257000	0.65294	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	13.886	0.63210	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	34	chr16	22131281	.	T	C	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.169;DP=686;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.266;SOR=0.875	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1318	18	0	1	0
chr16	22133009	22133009	G	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.G1982A:p.R661H	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00981108398019	0.0034	0.00159744	0.0033	0.0004	0.0025	0	0.0002	0.0047	0.0034	0.0033	0.0030401	470	154602	rs193072842	0.0033	0.0034	0.0033	0.0034	0.0130	0.0033	0.0032	0.0106	0.0098	0.0007	0.0022	0.0281	7.557e-05	0.0002	0.0130	0.0031	0.0044	0.0033	0.0028	0.0027	0.0028	0.0027	0.0033	0.0025	0.0024	0.0028	0.0026	0.0006	0	0.0028	0.0317	0.0002	0	0.0034	0.0031	0.0057	0.0033	0.194	0.24277	T	0.235	0.29945	T	0.014	0.16867	B	0.01	0.14941	B	0.001147	0.40056	N	0.227351	0.750423	0.81001	D	1.475	0.37068	L	1.91	0.53088	T	-1.9	0.50337	N	0.1	0.08227	-1.1148	0.02688	T	0.068	0.28013	T	10	0.006254852	0.00141	T	0.009811	0.25586	T	0.034	0.08419	.	.	0.266385636622	0.26244	0.3237690010323594	0.32289	0.0535352238273	0.05900	0.277040153742	0.07083	T	0.015616	0.13063	T	-0.417689	0.01770	T	-0.369032	0.37003	T	0.0110051758183337	0.00159	T	0.647135	0.25820	T	0.12731166	0.29795	0.096040405	0.22802	0.12731166	0.29794	0.096040405	0.22802	-6.195	0.47882	T	.	.	0.077	0.06479	B	.;.;.	.;.;.	2.166792	0.27606	17.52	0.99773008339121061	0.86088	0.79769	0.39593	D	AEFDBI	0.291974	0.40297	N	-0.0164609820574259	0.41110	2.453219	0.128452929557453	0.46011	2.85421	0.593625954034329	0.21667	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.867000	0.48126	5.033000	0.46843	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	16.089	0.80891	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.029240	0.000000	0.000000	0.012195	0.003788	0.05263	1129.83	36	chr16	22133009	.	G	A	1129.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.006;DP=786;ExcessHet=0.119;FS=0.655;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.629;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	17	0	2	0
chr16	22266725	22266725	G	A	exonic	EEF2K	.	nonsynonymous SNV	EEF2K:NM_013302:exon15:c.G1613A:p.R538H	.	423	1098	1	0	0	1	0.000455166	.	.	.	3664083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.504	0.0826325660749	7.7e-05	.	0.0001	0	0.0003	0	0	3.029e-05	0	0.0005	9.06e-05	14	154602	rs370102420	7.528e-05	7.593e-05	6.128e-05	8.942e-05	0.0005	6.384e-05	5.941e-05	0.0004	0.0003	0	0.0001	0	0	0	0.0002	4.947e-05	0.0001	0.0005	8.533e-05	8.529e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.989e-05	2.404e-05	0	0.0002	0	0	0	0.0034	7.349e-05	0	0.0006	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	2.5	0.14408	T	-4.51	0.78222	D	0.89	0.88909	-1.0896	0.05599	T	0.117	0.41165	T	10	0.7832526	0.78031	D	0.082633	0.73942	D	0.504	0.78600	.	.	0.664167852428	0.66135	0.7906035301826511	0.79012	0.868651874649	0.69322	0.567491889	0.48323	T	0.547898	0.84638	D	0.00518938	0.52368	T	0.105937	0.77303	D	0.780802130699158	0.45101	D	0.986551	0.95418	D	0.7362548	0.80078	0.6869745	0.81590	0.7362548	0.80080	0.6869745	0.81591	-10.198	0.75088	D	.	.	0.418	0.60571	A	.	.	5.669226	0.92926	33	0.99959771122293051	0.99994	0.99403	0.95582	D	AEFDBI	0.873987	0.79664	D	0.968124009167871	0.94677	12.94829	0.970646573833372	0.97973	17.14813	0.999999999589363	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.602000	0.97623	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	20.879	0.99870	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	836.33	33	chr16	22266725	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=721;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.403;SOR=0.404	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr16	22315207	22315207	G	A	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon8:c.G533A:p.R178K,POLR3E:NM_001258035:exon8:c.G533A:p.R178K,POLR3E:NM_001258033:exon9:c.G641A:p.R214K,POLR3E:NM_001258036:exon9:c.G641A:p.R214K,POLR3E:NM_018119:exon9:c.G641A:p.R214K	.	.	.	.	.	.	.	.	0.0009	0.084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00523180054952	.	.	8.837e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs753686071	1.884e-05	1.984e-05	6.919e-06	3.095e-05	0.0005	1.29e-05	1.106e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.822e-06	1.687e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000002	0.62929	D	0.098546	0.99865	0.45228	D	-1.555	0.00461	N	1.12	0.38718	T	0.38	0.03579	N	0.252	0.29889	-1.0447	0.15913	T	0.028	0.11882	T	10	0.09885618	0.17901	T	0.005232	0.13341	T	0.086	0.25016	0.342	0.33464	0.498576615019	0.49493	0.11455228452785994	0.11383	0.397819580029	0.40861	0.500305354595	0.38871	T	0.001778	0.11099	T	-0.477796	0.00762	T	-0.631948	0.10268	T	0.124218021544159	0.14838	T	.	.	.	0.063329265	0.13322	0.08237032	0.18795	0.063329265	0.13322	0.08237032	0.18794	-2.435	0.05560	T	.	.	0.061	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.530502	0.19640	14.36	0.86852424887680324	0.16816	0.85366	0.44492	D	AEFBCI	0.511495	0.54010	D	-0.366475376048805	0.26670	1.457404	-0.0706000229913629	0.36611	2.13288	0.999999990416126	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	2.890000	0.48308	3.645000	0.39359	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.2064:0.0:0.7936:0.0	7.129	0.24668	459	0.78817	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	629.33	34	chr16	22315207	.	G	A	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.211;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	18	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6813.75	42	chr16	22534047	.	TACCCTCAGCTCC	T	6813.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=1871;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.91;MQRankSum=-2.016;QD=6.14;ReadPosRankSum=-1.195;SOR=0.649	GT:AD:DP:GQ:PL	0/1:266,64:330:99:1830,0,10810	16	0	3	0
chr16	22534217	22534217	G	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.G1234A:p.A412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00338373390256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.881e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.31532	T	0.206	0.27056	T	0.963	0.55692	D	0.966	0.71341	D	.	.	.	.	0.999996	0.08975	N	.	.	.	2.21	0.19860	T	-0.72	0.20358	N	0.076	0.05037	-1.0193	0.23943	T	0.049	0.20987	T	7	0.064985156	0.08700	T	0.003384	0.07572	T	0.101	0.28911	0.119	0.02647	0.0138822411134	0.00435	0.006215308526393826	0.00590	.	.	.	.	.	0.015388	0.12914	T	-0.261976	0.12669	T	-0.614087	0.11656	T	0.272092044353485	0.23837	T	0.710029	0.44782	T	0.05517465	0.10687	0.10340941	0.24810	0.05517465	0.10686	0.10340941	0.24809	-10.085	0.74419	D	.	.	0.378	0.58334	A	.;.;.;.;.;.	.;.;.;.;.;.	1.344464	0.17516	13.21	0.98855483244082565	0.47373	0.00528	0.02449	N	AEFI	0.029514	0.02799	N	-0.9165167410091	0.10455	0.4997259	-1.08218114600242	0.08051	0.3941975	1.64561268609402E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.956000	0.28799	-15.176000	0.00368	0.128000	0.17653	0.041000	0.21027	0.000000	0.08366	0.004000	0.06068	.	.	.	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	56.33	40	chr16	22534217	.	G	A	56.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.888;DP=716;ExcessHet=0;FS=4.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.57;MQRankSum=-1.002;QD=0.69;ReadPosRankSum=0.945;SOR=1.686	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	18	0	1	0
chr16	22534472	22534472	G	A	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.G1489A:p.E497K	.	589	932	1	0	0	1	0.000536193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00138864416403	.	.	0.0005	0	9.178e-05	0	0	0	0	0.0039	3.84e-05	1	26028	rs777320793	5.443e-05	0.0002	4.957e-05	5.888e-05	0.0005	4.172e-05	3.731e-05	0.0004	0.0003	0	2.472e-05	0	5.458e-05	0	0	8.925e-06	2.481e-05	0.0005	6.465e-05	0.0002	6.255e-05	6.691e-05	0.0016	3.175e-05	2.304e-05	0.0007	0.0005	0	0	0	0	0	0	0	3.361e-05	0	0.0016	0.101	0.30375	T	0.405	0.19421	T	0.911	0.50336	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	.	.	.	2.15	0.19311	T	-1.0	0.26422	N	0.076	0.05037	-1.0466	0.15361	T	0.062	0.25923	T	7	0.0117455125	0.00255	T	0.001389	0.02037	T	0.052	0.14661	0.288	0.24761	0.0138822411134	0.00435	0.13605976221334456	0.13529	.	.	.	.	.	0.016841	0.13845	T	-0.423453	0.01626	T	-0.571737	0.15290	T	0.39772292971611	0.28856	T	0.705629	0.39208	T	0.11188483	0.26437	0.121419765	0.29295	0.11188483	0.26437	0.121419765	0.29295	-9.988	0.73840	D	.	.	0.914	0.83726	P	.;.;.;.;.	.;.;.;.;.	1.943162	0.24678	16.49	0.9928821777697332	0.58149	0.00181	0.01060	N	AEFI	0.028875	0.02624	N	-0.478764144416611	0.22778	1.218651	-0.711747929783522	0.16668	0.8828574	1.64675026946072E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.123000	0.15536	-3.449000	0.02779	0.128000	0.17653	0.011000	0.18532	0.000000	0.08366	0.012000	0.09680	.	.	.	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	37	chr16	22534472	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1590;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.14;MQRankSum=2.86;QD=2.65;ReadPosRankSum=-2.893;SOR=0.791	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr16	23069332	23069332	G	C	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon16:c.C2773G:p.P925A	.	425	1062	33	2	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.000998403	0.0024	9.641e-05	0.0003	0	0	0.0010	0.0023	0.0158	0.0022121	342	154602	rs141634001	0.0013	0.0014	0.0009	0.0018	0.0140	0.0013	0.0013	0.0133	0.0131	6.028e-05	0.0002	0.0003	2.528e-05	7.542e-05	0.0081	0.0006	0.0014	0.0140	0.0011	0.0011	0.0011	0.0010	0.0118	0.0009	0.0009	0.0094	0.0085	9.619e-05	0.0351	0.0001	0.0006	0	9.423e-05	0.0102	0.0008	0.0014	0.0118	0.135	0.26192	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.218837	0.03439	N	1.754940	1	0.08975	N	1.7	0.43825	L	3.18	0.23884	T	-0.29	0.11728	N	0.053	0.14480	-0.9923	0.32012	T	0.021	0.08778	T	10	0.0021762252	0.00031	T	.	.	.	0.052	0.14661	.	.	0.407632638399	0.40377	0.1907764888670964	0.18995	0.22218228433	0.24755	0.25538033247	0.04355	T	0.007357	0.06771	T	-0.66129	0.00062	T	-0.710997	0.05244	T	0.0182750649148329	0.00546	T	0.645735	0.25721	T	0.041194297	0.06020	0.048098188	0.07073	0.041194297	0.06020	0.048098188	0.07073	-3.268	0.13328	T	.	.	0.060	0.01328	B	.;.	.;.	0.157530	0.05486	1.952	0.89360694669253948	0.18730	0.17158	0.19715	N	AEFDBI	0.082197	0.16642	N	-0.761764257807194	0.14315	0.7121154	-0.84167176139048	0.13488	0.6999429	0.997918275805011	0.36186	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	6.16	-3.78	0.04049	0.118000	0.15436	0.478000	0.18778	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.966000	0.53164	0.2567:0.4476:0.2957:0.0	8.026	0.29599	437	0.80299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.015152	0.05263	4359.83	39	chr16	23069332	.	G	C	4359.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=1128;ExcessHet=0.119;FS=3.869;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.27;SOR=0.772	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1448	17	0	2	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	55.34	35	chr16	23102333	.	A	G	55.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.841;DP=896;ExcessHet=0;FS=136.457;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.03;SOR=7.835	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr16	23352930	23352930	C	G	exonic	SCNN1B	.	nonsynonymous SNV	SCNN1B:NM_000336:exon3:c.C441G:p.H147Q	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00858263491132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156486124	2.736e-06	2.736e-06	2.722e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.743	0.04162	T	0.233	0.27503	T	0.007	0.14184	B	0.005	0.11217	B	0.448356	0.12539	N	0.736227	0.649582	0.32951	D	0.5	0.13406	N	-0.33	0.69777	T	-0.1	0.18459	N	0.136	0.22742	-0.8269	0.53499	T	0.209	0.56839	T	10	0.10546732	0.19496	T	0.008583	0.22680	T	0.094	0.27141	0.544	0.65731	0.751991407244	0.74975	0.3746822092804489	0.37382	0.14834148217	0.16729	0.365117490292	0.20128	T	0.122372	0.44600	T	-0.209108	0.19506	T	-0.538145	0.18478	T	0.0342948576571574	0.02687	T	0.636736	0.25039	T	0.12487112	0.29286	0.054455858	0.09369	0.12487112	0.29286	0.054455858	0.09368	-3.239	0.13000	T	.	.	0.133	0.29450	B	.;.;.;.	.;.;.;.	0.375081	0.07474	4.111	0.80896556308779133	0.13421	0.47197	0.27929	N	AEFDBI	0.073347	0.14667	N	-0.440710105284364	0.24056	1.296252	-0.343018907334126	0.26725	1.478068	0.00280367888449903	0.09719	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	3.02	0.33970	0.150000	0.16082	0.100000	0.14636	-0.182000	0.10109	0.859000	0.30595	0.821000	0.27127	0.923000	0.45890	0.0:0.686:0.1498:0.1642	7.253	0.25333	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3150.33	33	chr16	23352930	.	C	G	3150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.092;DP=882;ExcessHet=0;FS=8.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.183;SOR=0.685	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	23355489	23355489	G	A	exonic	SCNN1B	.	nonsynonymous SNV	SCNN1B:NM_000336:exon4:c.G776A:p.R259Q	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	.	.	.	.	.	.	.	1.0000	1.0	.	2103296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	.	.	.	2.487e-05	0	0	0	0	1.508e-05	0	0.0001	1.94e-05	3	154602	rs369198235	2.052e-05	2.121e-05	1.634e-05	2.475e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	0	0	0	2.519e-05	0	0	1.529e-05	3.312e-05	0.0001	5.259e-05	5.254e-05	3.856e-05	6.727e-05	0.0002	2.558e-05	1.831e-05	8e-06	2.99e-06	4.826e-05	0.0044	0	0	0	0	0	1.47e-05	0	0.0002	0.014	0.53172	D	0.046	0.49120	D	0.994	0.66517	D	0.726	0.55126	P	0.000035	0.55875	D	0.073905	1	0.81001	D	2.125	0.59049	M	-0.02	0.62918	T	-1.61	0.42001	N	0.453	0.51494	-0.4329	0.70971	T	0.314	0.68370	T	10	0.26863357	0.44383	T	0.06358	0.69013	D	0.270	0.58507	0.625	0.76028	0.876650780047	0.87544	0.6848690318161298	0.68425	0.501101001153	0.48508	0.338772237301	0.16253	T	0.251396	0.62164	T	-0.163907	0.26159	T	-0.270564	0.47762	T	0.884905695915222	0.53518	D	0.865513	0.56452	D	0.45619228	0.64433	0.21974245	0.46725	0.45619228	0.64434	0.21974245	0.46724	-5.045	0.39406	T	.	.	0.084	0.14933	B	.;.;.;.	.;.;.;.	6.397988	0.95144	34	0.99922898411444605	0.98852	0.89599	0.50166	D	AEFBI	0.704111	0.65993	D	0.570301058161712	0.71326	5.633999	0.54689117855443	0.71179	5.615893	0.872119794648791	0.25439	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	4.886000	0.62841	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0944:0.0:0.9056:0.0	11.088	0.47317	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	964.33	33	chr16	23355489	.	G	A	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=737;ExcessHet=0;FS=5.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.158;SOR=1.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	18	0	1	0
chr16	23424923	23424923	C	T	exonic	COG7	.	nonsynonymous SNV	COG7:NM_153603:exon7:c.G835A:p.V279I	Congenital disorder of glycosylation, type IIe	0	1505	15	2	0	19	0.0062727	.	.	.	340982	COG7-related_disorder|not_provided|COG7_congenital_disorder_of_glycosylation	.|MedGen:C3661900|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	.	.	0.00159744	0.0018	0	0.0001	0.0003	0	0.0002	0.0079	0.0100	0.0011707	181	154602	rs367796897	0.0006	0.0006	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.993e-05	0.0005	0	2.524e-05	0	0.0012	3.692e-05	0.0007	0.0080	0.0004	0.0004	0.0002	0.0006	0.0075	0.0003	0.0003	0.0055	0.0049	2.404e-05	0	0.0010	0	0.0004	0	0	4.409e-05	0	0.0075	0.339	0.12754	T	0.384	0.15794	T	0.299	0.32525	B	0.144	0.33818	B	0.000914	0.41128	D	0.242123	0.999994	0.58761	D	2.215	0.62545	M	0.75	0.50192	T	-0.16	0.09460	N	0.437	0.47580	-1.0145	0.25497	T	0.124	0.42799	T	10	0.0063500702	0.00143	T	.	.	.	0.164	0.42212	.	.	0.332386209738	0.32853	0.2118867272924524	0.21104	0.343418805594	0.36273	0.429371595383	0.29122	T	0.029176	0.20965	T	-0.396018	0.02459	T	-0.335656	0.40836	T	0.0285739946472209	0.01772	T	0.926107	0.72788	D	0.05932931	0.12046	0.058256436	0.10734	0.05932931	0.12046	0.058256436	0.10733	-5.87	0.45178	T	0.4826978869154527	0.56106	0.116	0.23395	B	.	.	3.581406	0.50496	23.0	0.99591961931315431	0.73690	0.91561	0.53787	D	AEFBHCI	0.690406	0.65075	D	0.0473114519717714	0.44019	2.683663	0.164546367607332	0.47917	3.014923	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.563494	0.21769	0	.	.	5.31	5.31	0.75063	5.977000	0.70179	7.569000	0.60664	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	17.976	0.89049	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1334.33	36	chr16	23424923	.	C	T	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=714;ExcessHet=0;FS=5.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.945;SOR=1.239	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1343	18	0	1	0
chr16	23532679	23532679	C	T	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon5:c.G1045A:p.E349K,EARS2:NM_001308211:exon5:c.G1045A:p.E349K	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	413435	Mitochondrial_disease|not_provided|Inborn_genetic_diseases|Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome	MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013971,MedGen:C4706421,OMIM:614924,Orphanet:314051	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.00808551042589	0.0018	0.000998403	0.0013	0	0.0004	0	0	0.0023	0.0012	0	0.0013583	210	154602	rs187662524	0.0015	0.0015	0.0015	0.0015	0.0019	0.0015	0.0014	0.0017	0.0017	0.0004	0.0013	0.0022	0	0.0002	0.0019	0.0018	0.0015	4.64e-05	0.0014	0.0014	0.0015	0.0013	0.0031	0.0013	0.0012	0.0024	0.0021	0.0004	0	0.0031	0.0017	0	9.42e-05	0	0.0020	0.0033	0	0.014	0.53172	D	0.097	0.39799	T	0.016	0.17332	B	0.042	0.24114	B	0.001317	0.39449	N	0.307856	0.999973	0.53665	D	0.62	0.15745	N	0.91	0.44856	T	-2.53	0.54864	D	0.494	0.52740	-1.0916	0.05270	T	0.060	0.24981	T	10	0.020168513	0.00461	T	0.008086	0.21444	T	0.089	0.25827	.	.	0.6276227268	0.62458	0.37330750199411467	0.37244	0.219153221451	0.24453	0.508318901062	0.39988	T	0.640952	0.88989	D	-0.417469	0.01775	T	-0.377989	0.35958	T	0.0434329083334966	0.04317	T	0.892211	0.62852	D	0.25050807	0.48053	0.23469113	0.48693	0.23387328	0.46198	0.24440633	0.49905	-5.755	0.45588	T	0.193703947569876	0.25497	0.131	0.29751	B	.;.;.;.	.;.;.;.	3.614417	0.51120	23.0	0.99743958361148477	0.83703	0.97073	0.72532	D	AEFDBI	0.699679	0.65695	D	-0.028728629606181	0.40557	2.410608	0.117047865392714	0.45420	2.805525	0.875477218230728	0.25506	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.65	3.54	0.39650	4.652000	0.61149	4.187000	0.42377	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7259:0.2741:0.0	14.775	0.69352	309	0.87553	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.000000	0.02632	873.33	33	chr16	23532679	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=729;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=1.33;SOR=1.069	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	18	0	1	0
chr16	23626394	23626394	G	A	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon7:c.C2590T:p.P864S	Fanconi anemia, complementation group N	0	1515	7	0	0	7	0.00230491	.	.	.	132179	Breast_and/or_ovarian_cancer|Pancreatic_cancer,_susceptibility_to,_3|Familial_cancer_of_breast|Fanconi_anemia_complementation_group_N|not_provided|Malignant_tumor_of_breast|Breast_carcinoma|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_5|Hereditary_cancer-predisposing_syndrome	MedGen:CN221562|MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MedGen:CN169374|MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00776096203216	0.0024	0.00119808	0.0027	0.0006	0.0029	0	0.0002	0.0041	0.0055	0.0004	0.0027555	426	154602	rs45568339	0.0035	0.0035	0.0034	0.0035	0.0039	0.0034	0.0034	0.0038	0.0037	0.0007	0.0034	0.0122	0	0.0001	0.0028	0.0039	0.0037	0.0004	0.0028	0.0028	0.0032	0.0024	0.0045	0.0026	0.0025	0.0037	0.0033	0.0010	0	0.0045	0.0121	0	0	0.0034	0.0038	0.0071	0	0.116	0.31088	T	0.721	0.30436	T	0.578	0.38765	P	0.156	0.34472	B	0.011659	0.29451	N	0.294949	0.902823	0.27667	N	1.98	0.53716	M	1.29	0.35775	T	-3.55	0.76900	D	0.312	0.36989	-1.0567	0.12595	T	0.042	0.17994	T	10	0.00803414	0.00182	T	0.007761	0.20589	T	0.062	0.17934	.	.	0.546952355657	0.54350	0.3523105440982538	0.35145	0.120347762335	0.13553	0.30349957943	0.10924	T	0.008683	0.52133	T	-0.491797	0.00635	T	-0.477013	0.24766	T	0.0293721478485098	0.01894	T	0.749125	0.37025	T	0.25251874	0.48267	0.2777429	0.53729	0.30101725	0.52996	0.24160075	0.49560	-7.557	0.58010	D	0.5260667653086007	0.59761	0.140	0.30634	B	.;.	.;.	2.395732	0.30769	18.54	0.9776188538898315	0.35813	0.78914	0.39009	D	AEFBI	0.099298	0.19991	N	-0.162978979664241	0.34684	1.982725	-0.0706853707266134	0.36609	2.132622	0.00494393965160808	0.10771	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.93	2.82	0.32061	0.823000	0.27020	4.357000	0.43106	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.951000	0.49849	0.0:0.1657:0.5387:0.2956	8.502	0.32324	391	0.83213	Partner and localiser of BRCA2, WD40 domain;Partner and localiser of BRCA2, WD40 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.100000	0.000000	0.003049	0.000000	0.02632	1542.33	33	chr16	23626394	.	G	A	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=768;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.846;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1392	18	0	1	0
chr16	23682122	23682122	C	T	exonic	PLK1	.	nonsynonymous SNV	PLK1:NM_005030:exon4:c.C781T:p.L261F	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0030	0.00299521	0.0030	0.0007	0.0004	0	0.0002	0.0031	0.0022	0.0088	0.0030142	466	154602	rs35056440	0.0035	0.0036	0.0034	0.0037	0.0091	0.0035	0.0034	0.0086	0.0084	0.0005	0.0006	0.0009	2.522e-05	0.0003	0.0031	0.0037	0.0027	0.0091	0.0022	0.0022	0.0022	0.0021	0.0093	0.0020	0.0019	0.0072	0.0064	0.0006	0	0.0008	0.0009	0	0.0002	0	0.0035	0.0028	0.0093	0.078	0.33923	T	0.05	0.48080	T	0.052	0.22494	B	0.094	0.30180	B	0.000008	0.62929	D	0.143821	0.984255	0.40121	D	1.45	0.36711	L	-0.15	0.65192	T	-0.8	0.22078	N	0.206	0.22870	-0.8885	0.49063	T	0.153	0.48205	T	10	0.01010105	0.00226	T	.	.	.	0.048	0.13305	.	.	0.470684501043	0.46696	0.34128735430968515	0.34041	1.23657706264	0.81487	0.658019423485	0.61125	T	0.080503	0.36379	T	-0.393341	0.02559	T	-0.332516	0.41188	T	0.0102229301445178	0.00139	T	0.933807	0.86839	D	0.2704779	0.50120	0.20118128	0.44086	0.2704779	0.50119	0.20118128	0.44085	-6.689	0.51728	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	3.603103	0.50905	23.0	0.99681488349060943	0.79307	0.87737	0.47378	D	AEFDBCI	0.478636	0.52112	N	0.03222409417133	0.43325	2.627675	0.230196518588936	0.51531	3.334822	0.999999711100228	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.85	4.85	0.62375	3.378000	0.52164	6.094000	0.53477	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.306:0.694:0.0:0.0	10.796	0.45661	368	0.84463	Protein kinase domain|Protein kinase domain|Protein kinase domain|Polo-like kinase 1, catalytic domain;Protein kinase domain|Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.011364	0.02632	1532.33	33	chr16	23682122	.	C	T	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.77;DP=750;ExcessHet=0;FS=4.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.128;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr16	23690925	23690925	G	C	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon21:c.C2531G:p.A844G,ERN2:NM_033266:exon22:c.C2687G:p.A896G	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0362566802527	0.0061	0.00379393	0.0061	0.0006	0.0042	0	0.0008	0.0086	0.0033	0.0066	0.0061577	952	154602	rs56129167	0.0067	0.0067	0.0066	0.0067	0.0111	0.0066	0.0065	0.0089	0.0081	0.0013	0.0054	0.0025	5.038e-05	0.0011	0.0111	0.0076	0.0058	0.0057	0.0045	0.0045	0.0047	0.0042	0.0074	0.0042	0.0041	0.0068	0.0066	0.0012	0	0.0050	0.0037	0	0.0004	0.0068	0.0074	0.0052	0.0046	0.008	0.58626	D	0.008	0.67890	D	0.883	0.48537	P	0.696	0.54017	P	0.000008	0.62929	D	0.108387	0.999997	0.58761	D	2.56	0.74772	M	1.46	0.32238	T	-3.69	0.70432	D	0.331	0.55713	-0.6521	0.62622	T	0.163	0.49897	T	10	0.011900961	0.00258	T	0.036257	0.56875	D	0.256	0.56694	.	.	0.81614728916	0.81441	0.5763600142811136	0.57565	0.343511193933	0.36281	0.39019715786	0.23698	T	0.365229	0.73068	T	-0.460266	0.00979	T	-0.427943	0.30168	T	0.0691613059369251	0.08533	T	0.911209	0.71446	D	0.10167715	0.24019	0.25943178	0.51691	0.10167715	0.24019	0.25943178	0.51690	-11.167	0.80566	D	.	.	0.300	0.53017	B	.;.	.;.	3.287382	0.45070	22.1	0.96385354483013386	0.29634	0.99235	0.93223	D	AEFDBHCI	0.882883	0.81137	D	0.0809927769215171	0.45577	2.811882	-0.0374607007012318	0.38037	2.235413	0.99999957927638	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.465395	0.07113	1	0.711	0.71501	0	.	.	5.22	3.25	0.36363	6.815000	0.75031	5.904000	0.50927	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.1529:0.0:0.8471:0.0	12.983	0.57974	365	0.84644	KEN domain|KEN domain|PUB domain;KEN domain|KEN domain|PUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005102	0.013587	0.008772	0.000000	0.008621	0.009146	0.003788	0.02632	1691.33	33	chr16	23690925	.	G	C	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.09;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1103	18	0	1	0
chr16	23710523	23710523	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon3:c.G226A:p.V76I,ERN2:NM_033266:exon3:c.G226A:p.V76I	.	425	1033	61	3	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0025	0.00579073	0.0057	0.0004	0.0013	0.0005	0.0009	0.0032	0.0044	0.0271	0.0051681	799	154602	rs150200841	0.0037	0.0037	0.0027	0.0047	0.0285	0.0036	0.0036	0.0275	0.0271	0.0004	0.0022	0.0072	0.0002	0.0011	0.0212	0.0020	0.0044	0.0285	0.0026	0.0026	0.0021	0.0030	0.0257	0.0023	0.0023	0.0220	0.0206	0.0004	0	0.0016	0.0072	0.0004	0.0006	0.0204	0.0026	0.0047	0.0257	0.125	0.27310	T	0.265	0.25514	T	0.902	0.49745	P	0.167	0.35118	B	0.000922	0.41028	D	0.226724	0.959256	0.38117	D	0.935	0.23595	L	0.41	0.57100	T	-0.53	0.16393	N	0.434	0.47301	-0.9834	0.34211	T	0.080	0.31556	T	10	0.008725643	0.00198	T	.	.	.	0.129	0.35316	.	.	0.779331883665	0.77729	0.28674151242258855	0.28587	0.335070030475	0.35518	0.355879753828	0.18784	T	0.060599	0.31430	T	-0.438073	0.01327	T	-0.382441	0.35437	T	0.0125137267359404	0.00207	T	0.748325	0.36895	T	0.059365295	0.12056	0.12874185	0.30967	0.059365295	0.12055	0.12874185	0.30967	-6.648	0.51418	T	.	.	0.095	0.14842	B	.;.	.;.	3.464842	0.48308	22.6	0.989779952778573	0.49680	0.92195	0.55157	D	AEFBI	0.242587	0.36401	N	0.119815519159688	0.47389	2.965184	0.192833246547164	0.49452	3.14833	0.975892739164718	0.29674	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	1.918000	0.39636	4.738000	0.44591	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.694000	0.33958	0.0:1.0:0.0:0.0	15.646	0.76800	588	0.69043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.012228	0.038012	0.050000	0.000000	0.027439	0.022727	0.07895	3808.79	38	chr16	23710523	.	C	T	3808.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.881;DP=924;ExcessHet=0.3672;FS=1.394;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.297;SOR=0.806	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1515	16	0	3	0
chr16	23757208	23757208	G	A	exonic	CHP2	.	nonsynonymous SNV	CHP2:NM_022097:exon6:c.G422A:p.R141H	.	424	1085	9	4	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00796955258838	0.0008	0.000399361	0.0013	0.0005	0.0012	0	0	0.0014	0.0022	0.0025	0.0011902	184	154602	rs112597134	0.0010	0.0010	0.0010	0.0011	0.0054	0.0010	0.0010	0.0039	0.0034	0.0004	0.0008	0.0095	0.0002	0.0001	0.0054	0.0008	0.0018	0.0027	0.0008	0.0008	0.0008	0.0008	0.0031	0.0007	0.0007	0.0019	0.0016	0.0002	0	0.0007	0.0087	0	0.0002	0.0068	0.0008	0.0033	0.0031	0.423	0.09746	T	0.367	0.16619	T	0.693	0.41684	P	0.097	0.30390	B	0.001397	0.39175	N	0.166426	0.999803	0.49283	D	1.88	0.49984	L	1.5	0.31205	T	-1.07	0.27876	N	0.836	0.83167	-1.0683	0.09791	T	0.066	0.27156	T	10	0.021376401	0.00510	T	0.00797	0.21136	T	0.114	0.32008	.	.	0.391000631824	0.38715	0.45384545533691345	0.45302	0.807526858809	0.66562	0.610252976418	0.54351	T	0.061301	0.31617	T	-0.4159	0.01817	T	-0.374803	0.36327	T	0.050442188358597	0.05577	T	0.956704	0.83523	D	0.18809146	0.40293	0.12120684	0.29247	0.18809146	0.40293	0.12120684	0.29246	-4.195	0.26679	T	.	.	0.127	0.26855	B	.	.	4.846618	0.79174	27.1	0.99903631853452857	0.97502	0.95828	0.66327	D	AEFDBI	0.887967	0.82066	D	0.33930929480666	0.58177	3.988564	0.409882426246787	0.62180	4.429136	0.998613265812217	0.37309	0.549168	0.22868	0	0.627178	0.54094	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	5.21	4.26	0.49832	9.469000	0.96838	10.552000	0.83426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0838:0.0:0.9162:0.0	12.0	0.52516	872	0.31118	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05263	1568.83	46	chr16	23757208	.	G	A	1568.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.12;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.806;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	17	0	2	0
chr16	24571610	24571610	C	T	exonic	RBBP6	.	nonsynonymous SNV	RBBP6:NM_018703:exon17:c.C4442T:p.P1481L,RBBP6:NM_006910:exon18:c.C4544T:p.P1515L	.	436	1084	2	0	0	2	0.000921659	.	.	.	2687063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00841903027642	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs749109514	7.608e-05	7.593e-05	5.319e-05	9.921e-05	0.0013	6.436e-05	6.016e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	3.32e-05	0.0013	6.578e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.02136	T	0.271	0.27145	T	0.0	0.07471	B	0.001	0.08700	B	0.002385	0.36650	N	0.218470	0.999936	0.21199	N	0.255	0.09829	N	2.49	0.17596	T	-1.2	0.66085	N	0.103	0.17416	-0.9676	0.37693	T	0.019	0.07939	T	10	0.009566158	0.00216	T	0.008419	0.22282	T	0.034	0.08419	0.21	0.12781	0.161926535498	0.15789	0.03618365470199716	0.03565	0.142144434222	0.16027	0.435000956059	0.29894	T	0.137128	0.46988	T	-0.623731	0.00104	T	-0.714275	0.05077	T	0.0135140990669655	0.00248	T	0.818018	0.47523	T	0.018832156	0.00407	0.028733667	0.01138	0.018832156	0.00407	0.028733667	0.01138	-3.857	0.21659	T	.	.	0.060	0.08802	B	.;.;.;.	.;.;.;.	2.649113	0.34491	19.64	0.54699726665305259	0.05190	0.71669	0.35113	D	AEFGBCI	0.085758	0.17387	N	-0.694811983640428	0.16168	0.8213826	-0.491489992969606	0.22387	1.215697	0.965690035516855	0.28848	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	2.61	0.30255	0.639000	0.24378	2.229000	0.31515	-0.202000	0.08738	0.340000	0.25675	0.981000	0.30433	0.907000	0.44265	0.0:0.6639:0.117:0.2191	8.422	0.31866	423	0.81269	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3925.81	33	chr16	24571610	.	C	T	3925.81	.	AC=2;AF=0.053;AN=38;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.74;SOR=0.862	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1100	18	1	0	0
chr16	24816903	24816903	A	G	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon19:c.A4772G:p.N1591S,TNRC6A:NM_001351850:exon19:c.A4799G:p.N1600S,TNRC6A:NM_014494:exon20:c.A4919G:p.N1640S	.	424	1078	18	2	0	22	0.010101	.	.	.	2807752	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.060	.	0.0003	0.00419329	0.0022	0	0.0009	0	0	0.0007	0	0.0130	0.0020246	313	154602	rs151084118	0.0011	0.0011	0.0007	0.0016	0.0134	0.0011	0.0011	0.0128	0.0125	0	0.0004	0.0012	5.038e-05	5.616e-05	0.0029	0.0003	0.0014	0.0134	0.0007	0.0007	0.0004	0.0010	0.0137	0.0006	0.0005	0.0110	0.0101	2.406e-05	0	6.533e-05	0.0012	0.0002	0	0	0.0005	0	0.0137	0.343	0.20456	T	0.434	0.14158	T	0.154	0.28120	B	0.085	0.29395	B	0.000027	0.55875	N	0.152552	0.992792	0.41745	D	0.805	0.20218	L	3.2	0.20523	T	-0.87	0.23808	N	0.338	0.37923	-0.9702	0.37157	T	0.010	0.03492	T	10	0.0048859715	0.00104	T	.	.	.	0.060	0.17295	.	.	0.362933182269	0.35899	0.40766964819661555	0.40682	0.430382981089	0.43283	0.590564846992	0.51574	T	0.017706	0.14396	T	-0.567227	0.00230	T	-0.575882	0.14914	T	0.0307644589758367	0.02108	T	0.815218	0.60121	T	0.03230234	0.03230	0.04453624	0.05791	0.03230234	0.03230	0.04453624	0.05791	-3.427	0.15422	T	.	.	0.065	0.02012	B	.;.;.	.;.;.	2.269194	0.28999	17.98	0.99029085608765388	0.50764	0.93915	0.59560	D	AEFDBIJ	0.384610	0.46567	N	-0.490317452608835	0.22397	1.195661	-0.253789741410166	0.29641	1.662271	0.999884838743622	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.71	3.47	0.38831	4.897000	0.62918	3.985000	0.40938	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.855:0.0:0.145:0.0	9.468	0.37991	351	0.85421	.;TNRC6, PABC binding domain;TNRC6, PABC binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.007576	0.02632	1068.33	35	chr16	24816903	.	A	G	1068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.087;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	18	0	1	0
chr16	24907135	24907135	C	T	exonic	SLC5A11	.	nonsynonymous SNV	SLC5A11:NM_001258412:exon11:c.C1015T:p.R339W,SLC5A11:NM_001258414:exon11:c.C757T:p.R253W,SLC5A11:NM_001352237:exon11:c.C928T:p.R310W,SLC5A11:NM_001352247:exon11:c.C844T:p.R282W,SLC5A11:NM_001258411:exon12:c.C1120T:p.R374W,SLC5A11:NM_001258413:exon12:c.C1033T:p.R345W,SLC5A11:NM_001352238:exon12:c.C1120T:p.R374W,SLC5A11:NM_001352245:exon12:c.C949T:p.R317W,SLC5A11:NM_001352246:exon12:c.C949T:p.R317W,SLC5A11:NM_001352250:exon12:c.C1144T:p.R382W,SLC5A11:NM_001352259:exon12:c.C1033T:p.R345W,SLC5A11:NM_052944:exon12:c.C1225T:p.R409W,SLC5A11:NM_001352236:exon13:c.C1033T:p.R345W,SLC5A11:NM_001352242:exon13:c.C1225T:p.R409W,SLC5A11:NM_001352248:exon13:c.C1225T:p.R409W,SLC5A11:NM_001352235:exon14:c.C1186T:p.R396W,SLC5A11:NM_001352249:exon15:c.C1033T:p.R345W	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.1800530578	0.0002	0.000399361	0.0005	0	0.0003	0.0003	0	8.996e-05	0	0.0027	0.0003946	61	154602	rs151082145	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	5.974e-05	0.0002	0	0.0009	0	0.0005	0.0001	0.0001	0.0026	0.0001	0.0001	3.854e-05	0.0002	0.0023	8.164e-05	6.721e-05	0.0013	0.0010	2.406e-05	0	0	0	0.0006	0	0	5.881e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.057984	1	0.81001	D	.	.	.	-2.5	0.89219	D	-7.77	0.95842	D	0.907	0.90818	0.976	0.96790	D	0.875	0.95830	D	10	0.065021664	0.08711	T	0.180053	0.85464	D	0.842	0.95063	.	.	0.834500327774	0.83292	0.8817062631188038	0.88138	0.679172418176	0.59923	0.587417304516	0.51130	T	0.263359	0.63503	T	0.112493	0.65609	D	0.384509	0.91590	D	0.298094266774401	0.24925	T	0.991087	0.97691	D	0.9286645	0.94103	0.90711987	0.95483	0.9286645	0.94104	0.90711987	0.95484	-11.56	0.82729	D	.	.	0.305	0.56045	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.347325	0.89703	31	0.99925458480197282	0.99042	0.88439	0.48367	D	AEFBCI	0.907840	0.86237	D	0.910806487616058	0.92279	11.33302	0.836844089160852	0.92224	11.30509	0.996296965586123	0.34649	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	4.754000	0.61888	3.973000	0.40841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.048	0.86384	835	0.38313	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3196.81	33	chr16	24907135	.	C	T	3196.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.74;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1329	18	1	0	0
chr16	24910305	24910305	G	-	splicing	SLC5A11	NM_001258414:exon14:c.1183-1G>-;NM_001258412:exon14:c.1441-1G>-;NM_001258411:exon15:c.1546-1G>-;NM_001352242:exon16:c.1651-1G>-;NM_001258413:exon15:c.1459-1G>-;NM_001352246:exon15:c.1375-1G>-;NM_001352248:exon16:c.1651-1G>-;NM_001352247:exon14:c.1270-1G>-;NM_001352250:exon15:c.1570-1G>-;NM_001352259:exon15:c.1459-1G>-;NM_001352238:exon15:c.1546-1G>-;NM_001352249:exon18:c.1459-1G>-;NM_001352237:exon14:c.1354-1G>-;NM_001352236:exon16:c.1459-1G>-;NM_001352235:exon17:c.1612-1G>-;NM_001352245:exon15:c.1375-1G>-;NM_052944:exon15:c.1651-1G>-	.	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	0	0	6.1e-05	3.84e-05	1	26028	rs767014276	1.368e-06	1.368e-06	0	2.751e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1806.29	35	chr16	24910304	.	AG	A	1806.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=718;ExcessHet=0;FS=2.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.489;SOR=0.98	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1398	18	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.07895	5963.79	33	chr16	24939524	.	C	T	5963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.816;DP=1014;ExcessHet=0.3672;FS=1.135;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.456;SOR=0.591	GT:AD:DP:GQ:PL	0/1:60,88:148:99:2246,0,1515	16	0	3	0
chr16	27225174	27225174	G	A	exonic	NSMCE1	.	nonsynonymous SNV	NSMCE1:NM_145080:exon8:c.C784T:p.R262W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	8.1e-05	0.000199681	0.0007	0	0	0.0002	0.0125	0.0005	0.0044	0	0.0003493	54	154602	rs181117005	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	6.111e-05	5.49e-05	3.004e-05	0	0	0	0.0047	0.0003	7.246e-05	0.0004	5.92e-05	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0001	0	0	0	0	0	0.0043	0	0.0003	0	0	0.001	0.78490	D	0.007	0.69154	D	0.999	0.77913	D	0.93	0.66466	D	0.004356	0.33837	N	0.221463	1	0.08975	N	2.34	0.67151	M	-1.75	0.83495	D	-3.81	0.71882	D	0.516	0.54671	-0.3980	0.72090	T	0.520	0.82076	D	10	0.011602968	0.00253	T	.	.	.	0.355	0.67600	.	.	0.950061248517	0.94953	0.37654606371091975	0.37568	1.24148029307	0.81577	0.503971815109	0.39381	T	0.093284	0.39180	T	-0.163747	0.26185	T	-0.09102	0.64085	T	0.112274258558779	0.13657	T	0.90121	0.65680	D	0.15934668	0.35799	0.18529344	0.41634	0.15934668	0.35799	0.18529344	0.41633	-8.824	0.66557	D	.	.	0.143	0.31482	B	.	.	3.806689	0.54888	23.5	0.9984438211584582	0.92403	0.16628	0.19476	N	AEFDBCI	0.169194	0.29601	N	-0.0595900756056169	0.39175	2.305998	-0.215937930205707	0.30964	1.748036	0.999741100252321	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.98	3.0	0.33773	1.484000	0.35116	3.638000	0.39337	0.676000	0.76740	0.151000	0.23669	1.000000	0.68203	0.393000	0.26625	0.0:0.0:0.7799:0.2201	8.984	0.35144	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1752.33	43	chr16	27225174	.	G	A	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=813;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.194;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr16	27573918	27573918	-	C	exonic	KATNIP	.	frameshift insertion	KATNIP:NM_015202:exon2:c.26dupC:p.E10Rfs*16	.	432	1089	1	0	0	1	0.000458926	.	.	.	1683286	See_cases|Joubert_syndrome_26|not_provided	.|MONDO:MONDO:0014771,MedGen:C4084843,OMIM:616784,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283389193	2.326e-05	2.326e-05	2.178e-05	2.475e-05	2.968e-05	1.674e-05	1.477e-05	2.116e-05	1.862e-05	0	0	0	0	0	0	2.968e-05	1.656e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7990.73	36	chr16	27573918	.	G	GC	7990.73	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.44;DP=925;ExcessHet=0;FS=2.111;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=2.4;SOR=0.56	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1518	17	1	1	0
chr16	27749769	27749769	G	T	exonic	KATNIP	.	nonsynonymous SNV	KATNIP:NM_015202:exon16:c.G2809T:p.D937Y	.	427	1065	29	1	0	31	0.0143452	.	.	.	590796	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	0.0244347244217	0.0019	0.00119808	0.0026	0.0005	0.0016	0.0001	0.0003	0.0030	0.0046	0.0050	0.0023415	362	154602	rs139603388	0.0021	0.0021	0.0019	0.0022	0.0113	0.0020	0.0020	0.0091	0.0083	0.0002	0.0015	0.0113	7.566e-05	0.0010	0.0113	0.0018	0.0028	0.0048	0.0016	0.0016	0.0014	0.0018	0.0064	0.0014	0.0014	0.0047	0.0041	0.0004	0.0033	0.0008	0.0101	0.0002	0.0007	0.0204	0.0018	0.0024	0.0064	0.016	0.51853	D	0.022	0.57587	D	0.017	0.17573	B	0.019	0.18783	B	0.673897	0.10317	N	0.853808	1	0.08975	N	2.4	0.69460	M	2.89	0.10196	T	-1.41	0.34795	N	0.178	0.19190	-1.0074	0.27727	T	0.027	0.11663	T	10	0.0036624074	0.00067	T	0.024435	0.47428	T	0.039	0.10176	.	.	0.124217242631	0.12060	0.3206566646174449	0.31978	0.561359108401	0.52642	0.244149789214	0.03177	T	0.007078	0.06498	T	-0.590743	0.00166	T	-0.620385	0.11155	T	0.0208218451589346	0.00782	T	0.59944	0.22338	T	0.08299885	0.19146	0.05143307	0.08275	0.08299885	0.19146	0.05143307	0.08274	-5.614	0.42920	T	.	.	0.100	0.17275	B	.	.	0.864212	0.12365	8.905	0.97492322916300633	0.34251	0.37915	0.25870	N	AEFDBI	0.129094	0.24713	N	-0.901725982473941	0.10801	0.5179883	-0.935435935864443	0.11261	0.5726477	0.901844998399076	0.26111	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.59	2.62	0.30337	1.558000	0.35917	1.003000	0.23275	-0.133000	0.13014	0.086000	0.22486	0.000000	0.08366	0.001000	0.02609	0.1767:0.0:0.8233:0.0	8.898	0.34636	571	0.70397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.008152	0.008772	0.050000	0.017241	0.006098	0.007576	0.02632	983.33	40	chr16	27749769	.	G	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=742;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.157;SOR=1.076	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1309	18	0	1	0
chr16	28101678	28101678	C	T	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon23:c.G3056A:p.R1019Q,XPO6:NM_001270940:exon24:c.G3014A:p.R1005Q	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0143823584698	0.0011	0.000599042	0.0011	0.0003	8.851e-05	0	0.0009	0.0015	0.0011	0.0016	0.0011255	174	154602	rs199516479	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0003	0.0005	0.0005	0	0.0006	0.0012	0.0020	0.0013	0.0013	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0015	0.0015	0.0005	0	0.0015	0.0006	0	0.0008	0	0.0018	0.0009	0.0019	0.186	0.32769	T	0.177	0.36901	T	0.033	0.20350	B	0.003	0.08700	B	0.000001	0.84330	D	0.053468	0.999998	0.58761	D	1.085	0.27262	L	-0.25	0.67011	T	-0.88	0.42763	N	0.396	0.43803	-0.9017	0.47814	T	0.170	0.51117	T	10	0.021247	0.00505	T	0.014382	0.34458	T	0.142	0.37995	.	.	0.305926609036	0.30200	0.4647590414621886	0.46394	0.751286644975	0.63797	0.608377575874	0.54086	T	0.064225	0.32380	T	-0.281019	0.10559	T	-0.183705	0.56177	T	0.0153889840809345	0.00344	T	0.938406	0.76842	D	0.11208949	0.26482	0.09186103	0.21618	0.11208949	0.26482	0.09186103	0.21617	-8.073	0.61615	D	.	.	0.106	0.41648	B	.;.;.;.	.;.;.;.	4.600384	0.72850	25.9	0.9985013532028495	0.92925	0.93986	0.59770	D	AEFDGBCI	0.801025	0.72685	D	0.15204112574382	0.48909	3.097413	0.361641968123802	0.59211	4.097181	0.999999999160783	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.171000	0.71829	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9203:0.0:0.0797	11.604	0.50275	559	0.71409	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002717	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1058.33	35	chr16	28101678	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.52;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.7;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr16	28342774	28342774	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T1111C:p.S371P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00216151588899	.	.	1.774e-05	0	0	0	0	0	0	8.604e-05	3.84e-05	1	26028	rs609563	4.841e-06	5.952e-05	8.242e-06	1.393e-06	3.031e-05	2.01e-06	1.3e-06	1.95e-06	1.28e-06	3.031e-05	0	0	0	0	0	5.435e-06	0	0	2.632e-05	8.535e-05	3.862e-05	1.346e-05	6.558e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.409e-05	0	6.558e-05	0	0	0	0	2.942e-05	0	0	0.205	0.20002	T	0.12	0.35970	T	0.0	0.17989	B	0.001	0.17295	B	.	.	.	.	1	0.08975	N	0.44	0.12706	N	0.82	0.48142	T	-1.45	0.35597	N	0.161	0.16864	-1.0403	0.17223	T	0.043	0.18535	T	7	0.039850175	0.02507	T	0.002162	0.04043	T	0.010	0.01040	0.293	0.25560	0.240615537116	0.23683	0.0033971902627879685	0.00317	1.8671837485	0.92471	.	.	.	0.008432	0.07741	T	-0.273449	0.11375	T	-0.630567	0.10373	T	0.0449470332210512	0.04592	T	0.344566	0.07649	T	0.3198724	0.54629	0.27713367	0.53664	0.3198724	0.54629	0.27713367	0.53663	-3.307	0.13828	T	.	.	0.076	0.05935	B	.;.	.;.	-0.531973	0.01766	0.134	0.064745547166511541	0.00024	0.00021	0.00226	N	AEFI	0.021708	0.00997	N	-1.96109915951264	0.00256	0.01098189	-2.04011938844706	0.00251	0.01108806	1.38657288614749E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.781000	0.01871	-1.958000	0.04434	-1.634000	0.00849	0.003000	0.16062	0.001000	0.17328	0.004000	0.06068	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	213.33	86	chr16	28342774	.	A	G	213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=2285;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.45;MQRankSum=-4.568;QD=2.48;ReadPosRankSum=2.48;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,0:138:99:.:.:0,120,1800:.	18	0	1	0
chr16	28342777	28342777	G	T	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.C1108A:p.Q370K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00157827598891	.	.	1.791e-05	0	0	0	0	0	0	8.63e-05	3.84e-05	1	26028	rs374667	8.992e-06	6.431e-05	1.236e-05	5.572e-06	3.035e-05	5.02e-06	3.87e-06	5.35e-06	3.91e-06	3.035e-05	0	0	2.621e-05	0	0	9.965e-06	0	0	3.289e-05	8.536e-05	3.862e-05	2.691e-05	6.556e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.411e-05	0	6.556e-05	0	0	0	0	4.412e-05	0	0	0.11	0.29158	T	0.387	0.15650	T	0.032	0.35064	B	0.011	0.25434	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.98	0.42122	T	-0.59	0.17624	N	0.137	0.15749	-1.0200	0.23715	T	0.030	0.13023	T	7	0.050103486	0.04695	T	0.001578	0.02523	T	0.091	0.26358	0.201	0.11522	0.168254554758	0.16434	0.004059632104610947	0.00380	2.09590049371	0.94772	.	.	.	0.003014	0.02412	T	-0.279764	0.10692	T	-0.639638	0.09696	T	0.0334026783978033	0.02537	T	0.286271	0.05268	T	0.30386877	0.53249	0.17416118	0.39793	0.30386877	0.53249	0.17416118	0.39792	-6.004	0.46313	T	.	.	0.108	0.20274	B	.;.	.;.	-0.275245	0.02728	0.361	0.34308514377341381	0.02091	0.00319	0.01677	N	AEFI	0.043403	0.06858	N	-1.44544798352074	0.02253	0.09927635	-1.52298783894148	0.02168	0.0993006	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.153000	0.15315	0.093000	0.17603	0.005000	0.17040	0.001000	0.17328	0.005000	0.06747	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	213.33	86	chr16	28342777	.	G	T	213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=2285;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.45;MQRankSum=-4.568;QD=2.48;ReadPosRankSum=2.35;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,0:138:99:.:.:0,120,1800:.	18	0	1	0
chr16	28342824	28342824	A	G	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.T1061C:p.V354A	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00387978554967	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs4608339	0.0001	0.0013	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0002	0.0005	3.978e-05	0.0003	0.0011	0	6.574e-05	0.0002	0.0002	0.0003	0.0010	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	0.0007	0	0.0002	0.0005	0.0006	1.0	0.00964	T	0.624	0.07518	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	-1.87	0.00254	N	0.85	0.47130	T	1.21	0.01064	N	0.041	0.02759	-1.0149	0.25368	T	0.038	0.16591	T	7	0.017230392	0.00367	T	0.00388	0.09117	T	0.025	0.05312	0.26	0.20315	0.158540857583	0.15491	0.004415434322039441	0.00415	1.78518323065	0.91433	.	.	.	6.04E-4	0.00251	T	-0.586422	0.00176	T	-0.815702	0.01541	T	0.0314224636618619	0.02213	T	0.29697	0.05508	T	0.14319988	0.32921	0.36184856	0.61601	0.14319988	0.32921	0.36184856	0.61601	-2.954	0.09694	T	.	.	0.073	0.06571	B	.;.	.;.	-1.020628	0.00742	0.023	0.17355450198602182	0.00502	0.00005	0.00104	N	AEFI	0.014215	0.00217	N	-2.06907666790497	0.00150	0.006406668	-2.13151826877235	0.00159	0.006993625	1.38286038433959E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	-1.888000	0.01707	-3.374000	0.02836	-2.074000	0.00407	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	351.33	53	chr16	28342824	.	A	G	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=2263;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-3.46;QD=6.63;ReadPosRankSum=-2.325;SOR=1.153	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	18	0	1	0
chr16	28342966	28342966	-	GACAA	exonic	NPIPB6	.	frameshift insertion	NPIPB6:NM_001282524:exon7:c.918_919insTTGTC:p.P307Lfs*17	.	436	1078	2	0	6	8	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0006	0	0	0.0008	0	0	7.68e-05	2	26028	.	0.0069	0.0080	0.0072	0.0066	0.0079	0.0068	0.0068	0.0078	0.0077	0.0018	0.0027	0.0027	0.0004	0.0120	0.0013	0.0079	0.0047	0.0013	0.0005	0.0006	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	7.528e-05	0.0011	0.0004	0.0006	0	0.0012	0	0.0008	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	560.79	13	chr16	28342966	.	G	GGACAA	560.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.702;DP=2199;ExcessHet=0.119;FS=29.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.42;MQRankSum=3.14;QD=6.52;ReadPosRankSum=-3.6;SOR=0.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800:.	17	0	2	0
chr16	28482131	28482131	A	C	exonic	CLN3	.	nonsynonymous SNV	CLN3:NM_001286105:exon11:c.T730G:p.F244V,CLN3:NM_001286109:exon11:c.T796G:p.F266V,CLN3:NM_001286110:exon12:c.T868G:p.F290V,CLN3:NM_000086:exon13:c.T1030G:p.F344V,CLN3:NM_001286104:exon13:c.T958G:p.F320V,CLN3:NM_001042432:exon14:c.T1030G:p.F344V	Ceroid lipofuscinosis, neuronal, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0813155607152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051790069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.09543	T	0.503	0.11299	T	0.074	0.34134	B	0.079	0.38752	B	0.150855	0.17973	N	0.601009	1	0.08975	N	2.38	0.68558	M	0.27	0.59176	T	-1.12	0.28906	N	0.481	0.56145	-0.2772	0.75617	T	0.603	0.85872	D	10	0.15039554	0.28446	T	0.081316	0.73656	D	0.120	0.33359	0.594	0.72371	0.57165941983	0.56832	0.26138928585425847	0.26051	0.308786403921	0.33188	0.454059660435	0.32499	T	0.574609	0.85971	D	-0.0688453	0.41510	T	-0.336668	0.40721	T	0.153013110125167	0.17341	T	0.873613	0.62120	D	0.08427862	0.19500	0.057850428	0.10590	0.08427862	0.19500	0.057850428	0.10589	-3.829	0.30534	T	0.10918573557870828	0.09087	0.253	0.48787	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.902507	0.12763	9.283	0.93423597988471641	0.23192	0.14614	0.18496	N	AEFDBI	0.200910	0.32761	N	-0.53479299590405	0.20962	1.108999	-0.477851480033957	0.22764	1.238102	0.00506344564012602	0.10815	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	3.11	0.34883	0.698000	0.25249	1.072000	0.23814	0.689000	0.82905	0.190000	0.24188	0.000000	0.08366	0.366000	0.26021	0.6607:0.0:0.1815:0.1578	3.738	0.08045	740	0.53092	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	598.33	35	chr16	28482131	.	A	C	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.549;DP=615;ExcessHet=0;FS=6.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-2.064;SOR=2.16	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	18	0	1	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	223.64	35	chr16	28757997	.	G	T	223.64	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=0.6304;MLEAC=3;MLEAF=0.083;MQ=40.26;MQRankSum=-0.674;QD=27.95;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:59:.:.:0,59,997:.	15	2	1	1
chr16	28866221	28866221	C	T	exonic	SH2B1	.	nonsynonymous SNV	SH2B1:NM_015503:exon1:c.C127T:p.R43C,SH2B1:NM_001145795:exon2:c.C127T:p.R43C,SH2B1:NM_001145796:exon2:c.C127T:p.R43C,SH2B1:NM_001145797:exon2:c.C127T:p.R43C,SH2B1:NM_001145812:exon2:c.C127T:p.R43C,SH2B1:NM_001308293:exon4:c.C127T:p.R43C	.	408	1111	3	0	0	3	0.00134831	.	.	.	3221845	SH2B1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.432622067171	.	0.000599042	4.019e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs547678855	1.922e-05	1.984e-05	1.638e-05	2.208e-05	0.0002	1.333e-05	1.147e-05	7.73e-05	5.317e-05	0.0002	0	0	0	0	0	1.62e-05	4.989e-05	1.165e-05	7.23e-05	7.219e-05	0.0001	4.034e-05	0.0002	3.972e-05	3.128e-05	0.0001	9.925e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0	0.004	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000004	0.62929	D	0.000000	0.998077	0.81001	D	1.83	0.48079	L	0.64	0.52867	T	-4.8	0.80767	D	0.592	0.61511	-0.6112	0.64354	T	0.234	0.60051	T	10	0.18670884	0.34148	T	0.432622	0.94011	D	0.363	0.68319	.	.	0.168254554758	0.16434	0.574711483745511	0.57400	1.01552359197	0.74930	0.690899193287	0.65836	T	0.160863	0.80865	T	-0.136724	0.30414	T	-0.149457	0.59292	T	0.772251129150391	0.44574	D	0.865513	0.67021	D	0.4502245	0.64055	0.42781729	0.66515	0.4502245	0.64055	0.42781729	0.66515	-9.14	0.69038	D	.	.	0.185	0.60826	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.628681	0.73573	26.0	0.99877399776922005	0.95410	0.79099	0.39132	D	AEFDBHCI	0.422186	0.48829	N	0.317685529226356	0.57054	3.871651	0.267278741423177	0.53639	3.53182	0.999999938443174	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.64	4.64	0.57399	1.699000	0.37423	2.754000	0.34556	0.545000	0.25583	0.504000	0.26986	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.265	0.82394	289	0.88525	Phenylalanine zipper;Phenylalanine zipper;.;Phenylalanine zipper;Phenylalanine zipper;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	807.33	33	chr16	28866221	.	C	T	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=695;ExcessHet=0;FS=2.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.025;SOR=0.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	28866653	28866653	A	G	exonic	SH2B1	.	nonsynonymous SNV	SH2B1:NM_015503:exon1:c.A559G:p.T187A,SH2B1:NM_001145795:exon2:c.A559G:p.T187A,SH2B1:NM_001145796:exon2:c.A559G:p.T187A,SH2B1:NM_001145797:exon2:c.A559G:p.T187A,SH2B1:NM_001145812:exon2:c.A559G:p.T187A,SH2B1:NM_001308293:exon4:c.A559G:p.T187A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0118280547211	.	.	2.54e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs528079443	2.808e-05	2.805e-05	1.226e-05	4.407e-05	0.0005	2.089e-05	1.881e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.316e-05	0.0005	1.976e-05	1.972e-05	1.287e-05	2.699e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.241	0.17643	T	0.844	0.03652	T	0.141	0.27581	B	0.039	0.23607	B	0.004898	0.33292	N	0.181068	0.720375	0.81001	D	0.235	0.09667	N	0.93	0.44065	T	-0.08	0.08187	N	0.288	0.32591	-1.0122	0.26228	T	0.045	0.19478	T	10	0.031230032	0.01256	T	0.011828	0.29841	T	0.044	0.11924	0.121	0.02793	0.143184338766	0.13958	0.2747921103980867	0.27392	0.253826429133	0.27951	0.645654082298	0.59367	T	0.057152	0.30487	T	-0.426052	0.01567	T	-0.54805	0.17513	T	0.033774943575768	0.02599	T	0.651335	0.26216	T	0.022074403	0.00847	0.030287609	0.01466	0.022074403	0.00846	0.030287609	0.01466	-2.313	0.04917	T	.	.	0.083	0.10931	B	.;.;.;.;.;.	.;.;.;.;.;.	2.076327	0.26409	17.11	0.81431444461302616	0.13682	0.73034	0.35731	D	AEFDBI	0.131814	0.25089	N	-0.865331437924862	0.11675	0.5647012	-0.722166465209726	0.16409	0.8679229	0.999691314371048	0.41870	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.48	2.23	0.27189	1.836000	0.38831	5.445000	0.48630	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.8153:0.0:0.1847:0.0	7.679	0.27669	289	0.88525	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2187.33	33	chr16	28866653	.	A	G	2187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=807;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.444;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	28894904	28894904	C	T	exonic	ATP2A1	.	nonsynonymous SNV	ATP2A1:NM_001286075:exon10:c.C995T:p.T332M,ATP2A1:NM_004320:exon12:c.C1370T:p.T457M,ATP2A1:NM_173201:exon12:c.C1370T:p.T457M	Brody myopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	374323	not_provided|Brody_myopathy	MedGen:C3661900|MONDO:MONDO:0010977,MedGen:C1832918,OMIM:601003,Orphanet:53347	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.212696934143	0.0008	0.000998403	0.0002	0.0015	0.0002	0	0	0	0	0.0004	0.000194	30	154602	rs138880727	0.0001	0.0001	0.0001	0.0001	0.0029	9.125e-05	8.655e-05	0.0025	0.0023	0.0029	6.708e-05	0	7.557e-05	0	0	2.698e-06	0.0001	0.0004	0.0008	0.0008	0.0008	0.0009	0.0026	0.0007	0.0007	0.0022	0.0021	0.0026	0	0.0003	0	0.0002	0	0	1.47e-05	0.0005	0.0021	0.062	0.36912	T	0.073	0.43159	T	0.366	0.34016	B	0.025	0.20508	B	0.000005	0.62929	D	0.103865	0.999968	0.52935	D	1.125	0.28843	L	-3.89	0.95984	D	-3.56	0.68880	D	0.595	0.67045	0.682	0.92944	D	0.788	0.92825	D	10	0.055428565	0.06057	T	0.212697	0.87369	D	0.444	0.74657	.	.	0.97177048627	0.97146	0.5636853744976361	0.56295	1.23181786945	0.81364	0.65601170063	0.60840	T	0.583474	0.86396	D	-0.159001	0.26914	T	-0.00671894	0.69898	D	0.121396171570797	0.14565	T	0.935306	0.75759	D	0.43734223	0.63230	0.4131323	0.65495	0.43734223	0.63231	0.4131323	0.65495	-9.315	0.69701	D	.	.	0.185	0.46109	B	.;.;.	.;.;.	4.387368	0.67679	25.1	0.99370293329017523	0.61411	0.89508	0.50017	D	AEFDBCI	0.552001	0.56384	D	0.187532791259697	0.50600	3.24845	0.278516259565632	0.54286	3.594154	0.999999054367371	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.82	4.82	0.61641	4.881000	0.62806	7.700000	0.66237	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	16.706	0.85232	327	0.86637	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	909.33	37	chr16	28894904	.	C	T	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.26;DP=771;ExcessHet=0;FS=11.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.729;SOR=0.264	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr16	28932950	28932950	T	G	exonic	CD19	.	nonsynonymous SNV	CD19:NM_001385732:exon2:c.T128G:p.L43R,CD19:NM_001178098:exon3:c.T395G:p.L132R,CD19:NM_001770:exon3:c.T395G:p.L132R	Immunodeficiency, common variable, 3, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	341123	Immunodeficiency,_common_variable,_3|not_provided	MONDO:MONDO:0013283,MedGen:C3150738,OMIM:613493,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0171490735058	0.0004	0.000798722	0.0021	0.0008	0.0010	0	0.0038	0.0030	0.0025	0.0008	0.0011061	171	154602	rs146795664	0.0014	0.0014	0.0015	0.0013	0.0016	0.0014	0.0013	0.0016	0.0015	0.0003	0.0003	3.861e-05	0	0.0018	0.0016	0.0016	0.0009	0.0006	0.0009	0.0009	0.0008	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0.0022	0.0004	0	0	0.0023	0	0.0014	0.0009	0.0006	0.09	0.31987	T	0.425	0.13912	T	0.234	0.30717	B	0.06	0.26717	B	0.339731	0.04180	N	1.501650	1	0.08975	N	1.15	0.29295	L	1.22	0.37052	T	-2.66	0.56945	D	0.074	0.04790	-1.0284	0.20973	T	0.054	0.22731	T	10	0.005671203	0.00126	T	0.017149	0.38730	T	0.011	0.01250	.	.	0.220282294035	0.21616	0.3914835461063736	0.39063	0.362902455955	0.37930	0.24262291193	0.03031	T	0.508399	0.82570	D	-0.563012	0.00244	T	-0.585182	0.14086	T	0.0203081661200856	0.00731	T	0.39926	0.10144	T	0.22120807	0.44692	0.2367411	0.48953	0.40768832	0.61262	0.21182767	0.45626	-3.283	0.13583	T	0.5106336854894782	0.58443	0.071	0.04847	B	.;.;.	.;.;.	-0.545514	0.01726	0.128	0.66417886189451081	0.08053	0.02947	0.07774	N	ALL	0.069515	0.13762	N	-1.18463826909659	0.05232	0.2380287	-1.27509708751677	0.04769	0.2257717	0.999996912049621	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	-3.66	0.04200	-1.210000	0.03109	0.095000	0.14569	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1453:0.4893:0.1462:0.2193	2.107	0.03469	440	0.80101	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1984.33	151	chr16	28932950	.	T	G	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.434;DP=810;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	18	0	1	0
chr16	28975191	28975191	G	C	exonic	SPNS1	.	nonsynonymous SNV	SPNS1:NM_001142449:exon1:c.G40C:p.D14H,SPNS1:NM_001142451:exon1:c.G40C:p.D14H,SPNS1:NM_032038:exon1:c.G40C:p.D14H,SPNS1:NM_001142448:exon2:c.G40C:p.D14H	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0124805224718	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs764305296	3.791e-05	3.967e-05	2.912e-05	4.707e-05	0.0018	2.93e-05	2.649e-05	0.0008	0.0006	0	3.262e-05	0	0	0	0.0018	1.896e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.006	0.91255	D	0.017	0.72224	D	0.999	0.90584	D	0.936	0.88582	D	0.000402	0.44736	D	0.153798	0.981375	0.81001	D	0.345	0.11182	N	1.86	0.39401	T	-1.37	0.33998	N	0.23	0.25989	-0.8658	0.50842	T	0.159	0.49195	T	10	0.14930916	0.28259	T	0.012481	0.31090	T	0.055	0.15663	0.212	0.13066	0.28297238246	0.27903	0.47894881177042264	0.47814	0.779126380547	0.65190	0.730525016785	0.71582	T	0.020691	0.66471	T	-0.288006	0.09837	T	-0.355285	0.38598	T	0.208011254668236	0.20849	T	0.868113	0.66975	D	0.22579351	0.45247	0.16470201	0.38139	0.22579351	0.45247	0.16470201	0.38139	-4.439	0.30705	T	.	.	0.292	0.52351	B	.;.;.;.;.;.	.;.;.;.;.;.	5.068765	0.84532	28.3	0.99450489599159853	0.65274	0.36013	0.25435	N	AEFDBCIJ	0.243286	0.36459	N	0.459965745550926	0.64769	4.739255	0.460818946443424	0.65414	4.82087	0.999999974430561	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.47	4.47	0.53770	2.320000	0.43456	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.812	0.57025	479	0.77495	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	975.33	34	chr16	28975191	.	G	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=727;ExcessHet=0;FS=3.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=1.25;SOR=1.172	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	18	0	1	0
chr16	29381894	29381894	C	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G3038T:p.G1013V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0177785271116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243470871	1.872e-05	5.85e-05	0	3.51e-05	4.091e-05	8.8e-06	6.38e-06	6.78e-06	3.64e-06	0	0	6.991e-05	0	0	0	1.711e-05	3.714e-05	4.091e-05	0.0002	0.0002	0.0004	0	0.0016	5.649e-05	3.035e-05	.	.	0	0	0	0	0.0016	0.0021	0	0	0	0	0.218	0.19090	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.78	0.21644	N	0.133	0.12913	-1.0137	0.25752	T	0.027	0.11751	T	4	0.14362982	0.27267	T	0.017779	0.39611	T	0.029	0.06676	0.138	0.04187	0.407901774203	0.40404	0.01258017048705918	0.01217	.	.	.	.	.	0.008472	0.07774	T	-0.32367	0.06602	T	-0.702706	0.05679	T	0.0570433831746939	0.06695	T	0.134587	0.01064	T	0.07777633	0.17673	0.10902391	0.26271	0.07777633	0.17672	0.10902391	0.26271	-6.909	0.53365	T	.	.	0.439	0.61659	A	.	.	0.893363	0.12667	9.193	0.93809876376448986	0.23785	0.00072	0.00504	N	AEFI	0.042246	0.06531	N	-0.726350605316632	0.15284	0.7688897	-0.816126234067725	0.14104	0.7352808	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.786000	0.01862	-6.505000	0.01380	-1.512000	0.01014	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	318.34	12	chr16	29381894	.	C	A	318.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=559;ExcessHet=0;FS=13.542;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=38.32;MQRankSum=-1.71;QD=4.61;ReadPosRankSum=-3.895;SOR=3.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,953:.	18	0	1	0
chr16	29381898	29381898	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3034T:p.R1012W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0309293672099	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758783104	1.049e-05	4.798e-05	4.494e-06	1.573e-05	2.033e-05	4.07e-06	2.23e-06	1.16e-06	4.4e-07	0	0	6.833e-05	0	0	0	6.981e-06	3.707e-05	2.033e-05	0.0002	7.329e-05	0.0002	0.0001	0.0015	4.913e-05	2.632e-05	.	.	0.0005	0	0	0	0.0015	0.0009	0	0	0	0	0.104	0.29959	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-1.03	0.27052	N	0.094	0.07398	-0.9951	0.31272	T	0.029	0.12409	T	4	0.07890633	0.12633	T	0.030929	0.53130	D	0.009	0.00846	0.222	0.14518	0.342168650903	0.33825	0.02124264692172073	0.02077	.	.	.	.	.	0.011715	0.10413	T	-0.273434	0.11377	T	-0.630546	0.10374	T	0.186003908514977	0.19606	T	0.905509	0.66687	D	0.04954826	0.08816	0.075070485	0.16489	0.04954826	0.08815	0.075070485	0.16489	-9.643	0.71746	D	.	.	0.674	0.71904	P	.	.	2.107173	0.26815	17.25	0.99631357908260298	0.76081	0.00068	0.00484	N	AEFI	0.072196	0.14400	N	-0.691192422539428	0.16272	0.8275208	-0.799880462443643	0.14498	0.7578326	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.797000	0.04708	0.172000	0.17770	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	241.15	12	chr16	29381898	.	G	A	241.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.02;DP=559;ExcessHet=0;FS=11.27;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.029;MQ=38.13;MQRankSum=-1.921;QD=3.71;ReadPosRankSum=-3.899;SOR=2.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,953:.	16	0	1	2
chr16	29382002	29382002	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2930T:p.A977V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0021345285967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.09717	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-0.44	0.14588	N	0.104	0.08786	-0.9795	0.35117	T	0.034	0.14683	T	5	0.07665077	0.12002	T	0.002135	0.03962	T	0.067	0.19503	0.09	0.01023	0.0666544352282	0.05500	0.013740256201282728	0.01332	.	.	.	.	.	0.007742	0.07126	T	-0.37815	0.03200	T	-0.780963	0.02424	T	0.150951476879838	0.17179	T	0.713829	0.32570	T	0.040847592	0.05905	0.0778633	0.17384	0.040847592	0.05905	0.0778633	0.17384	-9.945	0.73582	D	.	.	0.396	0.59341	A	.	.	1.377971	0.17892	13.43	0.99610946377811327	0.74813	0.00167	0.00991	N	AEFI	0.033339	0.03935	N	-0.775753352386576	0.13944	0.6906965	-0.94149919849622	0.11121	0.5646177	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-7.618000	0.01119	-1.093000	0.01529	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	716.33	46	chr16	29382002	.	G	A	716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=694;ExcessHet=0;FS=5.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.33;MQRankSum=0.436;QD=15.57;ReadPosRankSum=-0.924;SOR=0.157	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1138	18	0	1	0
chr16	29382128	29382128	G	A	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2804T:p.A935V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00148240185641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.303e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-0.58	0.17417	N	0.072	0.04547	-0.9998	0.29973	T	0.030	0.13067	T	5	0.06696418	0.09260	T	0.001482	0.02267	T	0.048	0.13305	0.096	0.01287	0.0716867268079	0.06686	0.02084036746297857	0.02037	.	.	.	.	.	0.010228	0.09253	T	-0.376122	0.03295	T	-0.778049	0.02513	T	0.1696343341406	0.18555	T	0.725627	0.33984	T	0.060289077	0.12353	0.112054944	0.27033	0.060289077	0.12353	0.112054944	0.27033	-9.639	0.71721	D	.	.	0.405	0.59854	A	.	.	1.057247	0.14390	10.96	0.99629635389219517	0.75959	0.00180	0.01055	N	AEFBI	0.029571	0.02817	N	-0.729704053452214	0.15190	0.7633865	-0.884023535934803	0.12471	0.6417424	1.09582168514057E-6	0.01202	0.553676	0.25195	0	0.671659	0.64595	1	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.161000	0.16298	-1.694000	0.04901	0.172000	0.17770	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	36	chr16	29382128	.	G	A	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.16;MQRankSum=-0.526;QD=13.2;ReadPosRankSum=-1.254;SOR=0.693	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,962	18	0	1	0
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	114.33	33	chr16	29382896	.	G	C	114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.39;MQRankSum=-0.593;QD=5.2;ReadPosRankSum=0.148;SOR=0.307	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1009	18	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1171.4	182	chr16	29383301	.	T	C	1171.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.543;DP=1668;ExcessHet=0.119;FS=5.493;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=51.34;MQRankSum=-1.131;QD=4.26;ReadPosRankSum=-3.302;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,101,1530:.	15	0	2	2
chr16	29383375	29383375	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1557delT:p.E520Sfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0051	0.0028	0.0005	0	0.0003	.	.	.	.	0.0110	0.0070	0.0119	0.0103	0.0677	0.0108	0.0106	0.0650	0.0639	0.0111	0.0225	0.0054	0.0677	0.0108	0.0070	0.0060	0.0103	0.0082	0.0016	0.0003	0.0024	0.0008	0.0176	0.0007	0.0005	0.0048	0.0026	0	0	0	0	0.0176	0	0	0.0013	0	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	477.79	299	chr16	29383374	.	CA	C	477.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.687;DP=1416;ExcessHet=0.119;FS=3.356;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.76;MQRankSum=2.63;QD=1.04;ReadPosRankSum=-0.895;SOR=1.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:81:.:.:0,81,1215:.	17	0	2	0
chr16	29446947	29446947	T	G	exonic	BOLA2-SMG1P6	.	nonsynonymous SNV	BOLA2-SMG1P6:NM_001320624:exon2:c.A341C:p.E114A,BOLA2-SMG1P6:NM_001320628:exon2:c.A65C:p.E22A,BOLA2-SMG1P6:NM_001320622:exon3:c.A401C:p.E134A,BOLA2-SMG1P6:NM_001320627:exon3:c.A65C:p.E22A	.	842	677	2	1	0	4	0.00294551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331405376	0.0057	0.0039	0.0027	0.0083	0.0505	0.0055	0.0054	0.0488	0.0481	0	0.0002	0	3.606e-05	0	0.0038	2.823e-05	0.0028	0.0505	0.0011	0.0017	0.0007	0.0017	0.0341	0.0009	0.0009	0.0281	0.0259	0.0002	0	0.0001	0	0.0004	0	0	2.564e-05	0.0011	0.0341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	78.59	1	chr16	29446947	.	T	G	78.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.108;DP=223;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0407;MLEAC=1;MLEAF=0.026;MQ=23.68;MQRankSum=-0.18;QD=11.23;ReadPosRankSum=0.328;SOR=2.494	GT:AD:DP:GQ:PL	0/0:12,0:12:33:0,33,495	18	0	1	0
chr16	29457723	29457723	C	G	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001015000:exon3:c.C332G:p.P111R,SLX1B:NM_178044:exon3:c.C332G:p.P111R,SLX1A:NM_001014999:exon4:c.C674G:p.P225R,SLX1B:NM_024044:exon4:c.C674G:p.P225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	.	.	.	0.0012	0	0	0	0	0.0003	0	0.0182	3.84e-05	1	26028	rs749921478	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	5.002e-05	0	0	1.984e-05	0.0002	0.0027	9.206e-05	0.0001	5.264e-05	0.0001	0.0041	4.944e-05	3.783e-05	0.0022	0.0017	0	0	0	0	0	0	0	0	0	0.0041	0.102	0.78490	T	0.102	0.66756	T	.	.	.	.	.	.	0.000168	0.48594	U	0.083144	0.999933	0.81001	D	.	.	.	.	.	.	-3.58	0.75297	D	0.391	0.53884	-0.3134	0.74609	T	0.399	0.75052	T	9	0.00573045	0.00128	T	.	.	.	0.265	0.57870	0.322	0.30226	0.239312915715	0.23560	0.37273961207491674	0.37187	3.52078213034	0.99770	0.718914270401	0.69888	T	.	.	.	0.000292015	0.51696	T	-0.237357	0.51057	T	0.301807576914667	0.25079	T	0.863714	0.59716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30868	B	.;.	.;.	4.648120	0.74066	26.1	0.99696999005345688	0.80316	0.92695	0.56320	D	AEFI	0.752618	0.69306	D	0.390117347343614	0.60886	4.282652	0.274082184268719	0.54031	3.569388	0.389715563515384	0.20035	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.5	2.5	0.29355	6.700000	0.74442	7.524000	0.59808	0.277000	0.18592	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	11.181	0.47852	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	32.15	5	chr16	29457723	.	C	G	32.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.094;DP=262;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.0319;MLEAC=1;MLEAF=0.029;MQ=30.5;MQRankSum=0.642;QD=1.46;ReadPosRankSum=-1.364;SOR=0.169	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,854	16	0	1	2
chr16	29483963	29483963	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G2513A:p.R838Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00120273127369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167522881	4.991e-05	0.0001	6.181e-05	3.905e-05	0.0002	3.365e-05	2.787e-05	7.248e-05	4.328e-05	8.143e-05	0.0002	0	0.0001	3.404e-05	0	3.424e-05	7.777e-05	2.199e-05	0	1.693e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.317	0.19304	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-1.0371	0.18202	T	0.044	0.19029	T	5	0.10215083	0.18705	T	0.001203	0.01558	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.28205	0.10452	T	-0.642922	0.09458	T	0.394968346511374	0.28753	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	1.726600	0.21980	15.43	0.99334798828212822	0.59934	0.00150	0.00907	N	AEFI	0.044582	0.07190	N	-0.78406096867286	0.13725	0.6782261	-1.04974586968734	0.08712	0.429713	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.076000	0.14570	-1.391000	0.05549	0.084000	0.17577	0.014000	0.18986	0.002000	0.18203	0.013000	0.09966	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.33	16	chr16	29483963	.	C	T	52.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=21.97;MQRankSum=1.65;QD=2.28;ReadPosRankSum=-1.157;SOR=0.095	GT:AD:DP:GQ:PL	0/1:18,5:23:66:66,0,406	18	0	1	0
chr16	29484097	29484097	-	CCCCGCAGACGCT	exonic	NPIPB12	.	frameshift insertion	NPIPB12:NM_001355401:exon8:c.2378_2379insAGCGTCTGCGGGG:p.P794Afs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269229025	8.429e-05	0.0021	8.122e-05	8.709e-05	0.0001	6.215e-05	5.524e-05	4.741e-05	3.86e-05	0	0.0001	0	0	0.0005	0	7.266e-05	0.0001	0	0.0003	0.0004	0.0002	0.0004	0.0006	0.0002	0.0001	0.0001	9.002e-05	7.72e-05	0	0.0002	0	0.0006	0.0013	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	223.39	18	chr16	29484097	.	C	CCCCCGCAGACGCT	223.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=492;ExcessHet=0;FS=83.283;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=22.87;MQRankSum=2.77;QD=8.59;ReadPosRankSum=-0.428;SOR=3.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:69:.:.:0,69,953:.	18	0	1	0
chr16	29485178	29485178	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G1298A:p.R433H	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0425807516574	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs372014128	0.0005	0.0003	0.0005	0.0005	0.0062	0.0004	0.0004	0.0037	0.0030	0.0062	0.0004	0.0022	0.0010	0.0006	0.0020	0.0001	0.0006	0.0010	0	3.994e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	0.124	0.27426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.0	0.21473	T	-1.05	0.27463	N	.	.	-0.9616	0.38877	T	0.027	0.11397	T	3	0.1120449	0.21002	T	0.042581	0.60541	D	0.069	0.20116	0.114	0.02306	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.327404	0.06310	T	-0.708069	0.05396	T	0.114731381982843	0.13907	T	0.859914	0.55237	D	.	.	.	.	.	.	.	.	-9.387	0.70153	D	.	.	0.310	0.53732	B	.	.	1.367939	0.17776	13.36	0.99272520015362786	0.57593	0.00086	0.00577	N	AEFI	0.038066	0.05333	N	-0.279026561366107	0.29959	1.666114	-0.396229107438735	0.25110	1.378909	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	.	.	.	-1.913000	0.01672	-1.983000	0.04393	-1.744000	0.00698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	92.61	20	chr16	29485178	.	C	T	92.61	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.792;DP=241;ExcessHet=0;FS=0;InbreedingCoeff=0.1451;MLEAC=1;MLEAF=0.031;MQ=31.07;MQRankSum=0.903;QD=9.26;ReadPosRankSum=0.48;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:29485178_C_T:105,0,261:29485178	15	0	1	3
chr16	29485229	29485229	C	T	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G1247A:p.R416Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0407928883201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0003	0.0005	0.0004	6.292e-05	0.0002	0.0003	3.547e-05	6.413e-05	0.0004	0.0005	0.0008	3.365e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.33	0.13131	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.97	0.22067	T	-0.15	0.09297	N	.	.	-0.9705	0.37094	T	0.031	0.13242	T	3	0.09986949	0.18153	T	0.040793	0.59575	D	0.063	0.18251	0.176	0.08257	0.12205267543	0.11705	.	.	.	.	.	.	.	.	.	.	-0.309163	0.07821	T	-0.681867	0.06871	T	0.0808867977528074	0.10100	T	0.541546	0.18382	T	.	.	.	.	.	.	.	.	-9.567	0.71276	D	.	.	0.211	0.43949	B	.	.	0.749447	0.11188	7.827	0.93521578877102962	0.23338	0.00086	0.00577	N	AEFI	0.039767	0.05821	N	-0.259186709457006	0.30736	1.716752	-0.379277353389978	0.25615	1.409776	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	0.105000	0.15169	-3.364000	0.02844	0.116000	0.17634	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	106.71	50	chr16	29485229	.	C	T	106.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.78;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=25.61;MQRankSum=1.49;QD=2.96;ReadPosRankSum=0.772;SOR=0.092	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1369	17	0	1	1
chr16	29485334	29485334	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C1142T:p.A381V	.	713	800	5	0	4	9	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00191823628313	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433758391	0.0047	0.0060	0.0046	0.0048	0.0058	0.0045	0.0045	0.0051	0.0050	0.0008	0.0058	0.0068	7.393e-05	0.0054	0.0027	0.0053	0.0052	0.0030	0.0017	0.0016	0.0015	0.0020	0.0022	0.0014	0.0013	0.0014	0.0012	0.0005	0	0.0021	0.0064	0	0.0022	0	0.0018	0.0050	0.0022	0.18	0.21968	T	0.364	0.16766	T	.	.	.	.	.	.	.	.	.	.	0.999996	0.08975	N	.	.	.	1.79	0.25509	T	0.27	0.04306	N	0.055	0.02658	-0.9675	0.37713	T	0.020	0.08313	T	4	0.0067388117	0.00153	T	0.001918	0.03404	T	0.011	0.01250	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.320286	0.06874	T	-0.697845	0.05944	T	0.00663782424146427	0.00074	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	-9.43	0.70423	D	.	.	0.320	0.55521	B	.;.	.;.	0.857128	0.12293	8.835	0.92509375513588699	0.21948	0.00179	0.01050	N	AEFI	0.046331	0.07681	N	-0.741001675265423	0.14879	0.7450008	-0.922566800288337	0.11562	0.5897836	1.09582168514057E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	-1.499000	0.02390	-1.800000	0.04703	-1.327000	0.01220	0.013000	0.18845	0.000000	0.08366	0.002000	0.04165	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	203.71	54	chr16	29485334	.	G	A	203.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.21;DP=1137;ExcessHet=0;FS=4.464;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=26.32;MQRankSum=-0.053;QD=2.87;ReadPosRankSum=0.72;SOR=0.059	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,116,1664	17	0	1	1
chr16	29485391	29485402	GCTGAGGGTGGA	-	exonic	NPIPB12	.	nonframeshift deletion	NPIPB12:NM_001355401:exon8:c.1074_1085del:p.P359_A362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449856855	0.0007	0.0009	0.0007	0.0007	0.0018	0.0007	0.0006	0.0009	0.0007	0.0016	0.0003	0.0030	0.0010	0.0006	0.0018	0.0006	0.0012	0.0006	0.0003	0.0002	0.0004	0.0002	0.0031	0.0001	8.732e-05	0.0001	8.367e-05	0.0002	0	0	0	0.0031	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9846.09	54	chr16	29485390	.	CGCTGAGGGTGGA	C	9846.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.602;DP=1746;ExcessHet=5.3738;FS=10.688;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=30.61;MQRankSum=1.21;QD=11.14;ReadPosRankSum=-2.341;SOR=1.694	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,116,1664	17	0	2	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:36,12:74:99:1|0:29485610_ACACACTC_A:862,332,2101:29485610	5	0	12	2
chr16	29485823	29485823	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C653T:p.A218V	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.000773571985722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189817837	0.0006	0.0009	0.0006	0.0007	0.0038	0.0006	0.0005	0.0029	0.0026	0.0038	0.0019	0.0001	0.0002	0.0001	0.0016	0.0005	0.0008	0.0009	0.0013	0.0014	0.0013	0.0013	0.0033	0.0009	0.0008	0.0021	0.0018	0.0033	0	0.0032	0	0	0	0	0.0002	0.0055	0	0.123	0.27544	T	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.0	0.41392	T	-1.67	0.39887	N	0.093	0.07262	-1.0168	0.24755	T	0.060	0.25054	T	4	0.14982828	0.28348	T	7.74E-4	0.00568	T	0.080	0.23350	0.745	0.87654	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.238398	0.15554	T	-0.580218	0.14526	T	0.0120771141934273	0.00191	T	0.831417	0.49863	T	.	.	.	.	.	.	.	.	-3.85	0.21553	T	.	.	0.402	0.59683	A	.;.	.;.	0.206290	0.05902	2.344	0.98434448885483183	0.41431	0.00092	0.00608	N	AEFI	0.027924	0.02369	N	-0.911891008097902	0.10563	0.5053657	-1.15893758649099	0.06609	0.3186807	1.82063294692628E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	-1.036000	0.03671	-5.159000	0.01826	-1.036000	0.01678	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	91.12	11	chr16	29485823	.	G	A	91.12	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.751;DP=206;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.053;MQ=30.12;MQRankSum=0;QD=4.8;ReadPosRankSum=1.51;SOR=0.148	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,298	17	0	2	0
chr16	29664774	29664774	G	A	exonic	SPN	.	nonsynonymous SNV	SPN:NM_001030288:exon2:c.G1046A:p.R349Q,SPN:NM_003123:exon2:c.G1046A:p.R349Q	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00931373903863	.	0.000399361	0.0004	0	0	0	0	0	0	0.0042	0.0001488	23	154602	rs574440536	0.0001	0.0002	8.724e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	3.355e-05	0	0	2.649e-05	6.259e-05	0.0002	3.688e-05	0.0002	0.0021	0.0001	0.0001	0.0001	0.0002	0.0027	9.738e-05	8.253e-05	0.0016	0.0013	4.81e-05	0	0	0	0	0	0.0034	8.821e-05	0	0.0027	0.098	0.32141	T	0.118	0.36233	T	0.995	0.67487	D	0.625	0.51564	P	0.180018	0.17128	N	0.426903	0.999993	0.08975	N	1.585	0.39878	L	0.85	0.48460	T	-1.18	0.37955	N	0.091	0.08366	-1.0056	0.28277	T	0.134	0.44836	T	10	0.008520037	0.00193	T	0.009314	0.24436	T	0.034	0.08419	.	.	0.568465717781	0.56512	.	.	0.612640393359	0.55853	0.362214922905	0.19708	T	0.369599	0.73429	T	-0.537169	0.00348	T	-0.550858	0.17244	T	0.158167336650048	0.17735	T	0.770523	0.40040	T	0.063672654	0.13432	0.075912535	0.16760	0.063672654	0.13431	0.075912535	0.16760	-10.366	0.76074	D	.	.	0.165	0.36295	B	.;.;.	.;.;.	3.146644	0.42582	21.6	0.99876691584784494	0.95328	0.22372	0.21724	N	AEFDBHCI	0.091011	0.18437	N	-0.207621814375622	0.32821	1.85526	-0.342560293467246	0.26739	1.478958	0.999999385705377	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.18	2.12	0.26372	0.455000	0.21555	1.331000	0.25669	0.618000	0.50648	0.002000	0.15269	0.001000	0.17328	0.592000	0.31189	0.175:0.1568:0.6682:0.0	5.875	0.18070	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1392.33	67	chr16	29664774	.	G	A	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=969;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.599;SOR=0.605	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7100.79	44	chr16	29810105	.	GGCAGCGGCA	G	7100.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1280	15	0	4	0
chr16	29810105	29810114	GGCAGCGGCA	0	exonic	MAZ	.	.	.	.	1	187	13	1	24	39	0.0385604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7100.79	44	chr16	29810105	.	GGCAGCGGCA	*	7100.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1280	18	0	1	0
chr16	29810109	29810117	GCGGCAGCG	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.397_405del:p.A141_A143del,MAZ:NM_002383:exon5:c.1312_1320del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1243_1251del:p.A423_A425del	.	326	1004	17	0	175	192	0.00839506	.	.	.	2807783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0259	.	0.0042	0.0042	0.0036	0.0083	0.0010	0.0043	0.0013	0.0038	6.47e-05	10	154602	rs780065474	0.0028	0.0028	0.0028	0.0029	0.0230	0.0028	0.0027	0.0196	0.0183	0.0044	0.0043	0.0060	0.0041	0.0012	0.0230	0.0025	0.0043	0.0038	0.0032	0.0032	0.0034	0.0030	0.0086	0.0029	0.0029	0.0066	0.0059	0.0032	0	0.0061	0.0045	0.0086	0.0009	0.0188	0.0024	0.0030	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1468.78	44	chr16	29810108	.	AGCGGCAGCG	A	1468.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1280	18	0	1	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1280	14	0	5	0
chr16	29836833	29836833	G	C	exonic	MVP	.	nonsynonymous SNV	MVP:NM_001293204:exon6:c.G784C:p.D262H,MVP:NM_001293205:exon6:c.G784C:p.D262H,MVP:NM_005115:exon7:c.G784C:p.D262H,MVP:NM_017458:exon7:c.G784C:p.D262H	.	429	1084	9	0	0	9	0.00413413	.	.	.	740108	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.185	0.0440808734472	0.0005	0.000599042	0.0006	0	0.0002	0	0.0026	0.0004	0.0011	0.0017	0.0004851	75	154602	rs71389430	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0016	0.0015	2.987e-05	0.0002	0	0	0.0026	0.0010	0.0002	0.0003	0.0018	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	0	0	6.539e-05	0	0	0.0021	0	0.0003	0	0.0023	0.004	0.65419	D	0.009	0.66756	D	0.988	0.62325	D	0.907	0.64423	P	0.000064	0.52346	D	0.166361	0.951925	0.26455	N	2.685	0.78553	M	1.42	0.33189	T	-4.88	0.81350	D	0.505	0.53708	-0.6276	0.63672	T	0.309	0.67976	T	10	0.028829008	0.01012	T	0.044081	0.61312	D	0.185	0.45933	.	.	0.510524285738	0.50692	0.6179824151050841	0.61731	1.06954850592	0.76764	0.533349871635	0.43506	T	0.681185	0.90640	D	-0.37547	0.03326	T	-0.325343	0.41985	T	0.222301111034934	0.21578	T	0.964804	0.86967	D	0.33799016	0.56118	0.353696	0.60926	0.33799016	0.56118	0.353696	0.60925	-5.201	0.38952	T	.	.	0.246	0.48458	B	.;.	.;.	4.838402	0.78968	27.0	0.94501661461393716	0.24976	0.74673	0.36535	D	AEFDGBHCI	0.305471	0.41288	N	0.372893029656634	0.59956	4.179755	0.418213334911759	0.62699	4.489865	0.999966619860341	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	2.796000	0.47562	11.552000	0.93185	0.662000	0.56354	0.980000	0.35271	1.000000	0.68203	0.752000	0.35857	0.0878:0.0:0.9122:0.0	10.604	0.44572	228	0.91137	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1337.33	34	chr16	29836833	.	G	C	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.906;DP=789;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.646;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1354	18	0	1	0
chr16	29981735	29981735	G	A	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_001252043:exon9:c.G730A:p.V244M,TAOK2:NM_004783:exon9:c.G730A:p.V244M,TAOK2:NM_016151:exon9:c.G730A:p.V244M	.	.	.	.	.	.	.	.	.	.	.	2885318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0481822458988	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313958114	1.094e-05	1.094e-05	6.806e-06	1.513e-05	2.519e-05	6.48e-06	5.24e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	1.872e-05	0	1.169e-05	1.656e-05	0	1.315e-05	1.314e-05	0	2.692e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.081	0.50676	T	0.032	0.59732	D	0.006	0.52645	B	0.029	0.49728	B	0.000524	0.43581	D	0.197551	0.98766	0.40629	D	0.67	0.16346	N	-1.68	0.82897	D	-0.94	0.25118	N	0.35	0.39153	-0.0706	0.80767	T	0.510	0.81580	D	9	0.22917667	0.39840	T	0.048182	0.63260	D	0.265	0.57870	0.375	0.38830	0.643474553185	0.64052	0.6213533026920472	0.62068	1.1128815902	0.78098	0.586315274239	0.50976	T	0.136406	0.46876	T	0.0304487	0.55784	T	-0.194039	0.55211	T	0.293219195521297	0.24724	T	0.922808	0.72903	D	0.05616507	0.11014	0.07972735	0.17973	0.05616507	0.11013	0.07972735	0.17973	-3.508	0.20178	T	.	.	0.078	0.31558	B	.;.;.;.	.;.;.;.	4.220834	0.63840	24.6	0.99846036377931902	0.92576	0.93602	0.58667	D	AEFGBI	0.443894	0.50101	N	0.148046816893987	0.48720	3.080807	0.301039907253196	0.55599	3.722988	0.999997988841897	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.499000	0.45032	10.045000	0.83189	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.1409:0.8591:0.0	15.254	0.73267	82	0.96572	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2985.33	33	chr16	29981735	.	G	A	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=872;ExcessHet=0;FS=3.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.007;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	18	0	1	0
chr16	29991356	29991356	A	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_004783:exon19:c.A2938T:p.N980Y	.	417	1101	4	0	0	4	0.00181324	.	.	.	3205226	TAOK2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.039	0.0518951543291	0.0014	0.000599042	0.0025	0.0005	0.0013	0	0.0057	0.0037	0.0037	0	0.0017723	274	154602	rs80174893	0.0022	0.0022	0.0022	0.0022	0.0024	0.0022	0.0021	0.0024	0.0023	0.0005	0.0010	0.0044	0	0.0040	0.0018	0.0024	0.0019	3.572e-05	0.0020	0.0020	0.0019	0.0021	0.0029	0.0018	0.0018	0.0026	0.0024	0.0004	0	0.0014	0.0035	0	0.0051	0.0068	0.0029	0.0019	0.0002	0.104	0.29959	T	0.172	0.30241	T	0.064	0.23455	B	0.056	0.26147	B	.	.	.	.	0.999925	0.19486	N	.	.	.	-0.44	0.69777	T	-0.7	0.19933	N	0.289	0.32701	-1.0010	0.29631	T	0.113	0.40307	T	8	0.00736326	0.00167	T	0.051895	0.64849	D	0.039	0.10176	.	.	0.459478837667	0.45574	.	.	.	.	.	.	.	.	.	.	-0.42807	0.01523	T	-0.388507	0.34726	T	0.0167000253837451	0.00428	T	0.457954	0.13172	T	.	.	.	.	.	.	.	.	-2.831	0.08472	T	.	.	0.146	0.32324	B	.	.	2.940613	0.39093	20.9	0.95685774336737273	0.27554	0.90574	0.51863	D	AEFBI	0.472754	0.51773	N	-0.230944877761153	0.31870	1.79145	-0.0269330247212534	0.38503	2.269354	0.973857849343751	0.29492	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.83	4.83	0.61880	3.281000	0.51389	11.201000	0.89033	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.7305:0.0:0.0936:0.1758	4.359	0.10628	74	0.96871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001010	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	208.33	40	chr16	29991356	.	A	T	208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=635;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=0.047;SOR=0.307	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,823	18	0	1	0
chr16	29993266	29993266	C	T	exonic	HIRIP3	.	nonsynonymous SNV	HIRIP3:NM_003609:exon7:c.G1612A:p.A538T	.	.	.	.	.	.	.	.	.	.	.	2324956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0136952844338	.	.	8.915e-06	0	0	0	0	1.554e-05	0	0	2.59e-05	4	154602	rs752942715	1.634e-05	3.489e-05	1.544e-05	1.727e-05	6.353e-05	1.088e-05	9.09e-06	1.693e-05	1.004e-05	6.353e-05	2.79e-05	0	0	1.93e-05	0	1.383e-05	0	5.113e-05	1.973e-05	1.97e-05	1.285e-05	2.692e-05	6.546e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.832e-05	0	6.546e-05	0	0	0	0	0	0	0	0.167	0.23095	T	0.151	0.32355	T	0.892	0.49086	P	0.212	0.37394	B	0.058354	0.22409	N	0.439260	0.999139	0.46149	D	1.59	0.40313	L	1.47	0.31987	T	-0.85	0.23156	N	0.06	0.03175	-1.1003	0.04055	T	0.038	0.16333	T	10	0.15106073	0.28560	T	0.013695	0.33283	T	0.063	0.18251	0.182	0.09004	0.484182897458	0.48051	0.22417491053578606	0.22332	0.227242799613	0.25277	0.376698195934	0.21788	T	0.007442	0.06846	T	-0.309028	0.07834	T	-0.681674	0.06882	T	0.577540338039398	0.35524	D	0.676232	0.28483	T	0.04535218	0.07408	0.06528679	0.13209	0.04535218	0.07408	0.06528679	0.13208	-4.8	0.34591	T	.	.	0.106	0.19679	B	.	.	2.434365	0.31322	18.71	0.99306543970762318	0.58832	0.46189	0.27705	N	AEFDBI	0.102343	0.20533	N	-0.228076645778664	0.31984	1.799121	-0.224524830422403	0.30660	1.728186	0.999999832383833	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.636168	0.56350	0	.	.	4.82	3.87	0.43823	0.803000	0.26744	5.113000	0.47528	0.599000	0.40250	0.555000	0.27385	1.000000	0.68203	0.197000	0.21808	0.0:0.61:0.39:0.0	11.426	0.49252	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2507.33	182	chr16	29993266	.	C	T	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=800;ExcessHet=0;FS=1.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.514;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1385	18	0	1	0
chr16	30005338	30005338	C	G	exonic	INO80E	.	nonsynonymous SNV	INO80E:NM_001304562:exon6:c.C514G:p.P172A,INO80E:NM_173618:exon7:c.C631G:p.P211A	.	456	1064	2	0	0	2	0.000938967	.	.	.	3444804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0385600526936	0.0002	.	9.903e-05	0	0	0.0005	0	0	0	0.0002	7.12e-05	11	154602	rs149816207	8.524e-05	8.965e-05	7.963e-05	9.101e-05	0.0004	7.213e-05	6.713e-05	0.0002	0.0002	3.72e-05	0.0002	4.346e-05	0.0004	4.134e-05	0	7.946e-05	7.238e-05	8.604e-05	0.0001	0.0001	0.0002	9.483e-05	0.0010	8.225e-05	6.771e-05	0.0004	0.0003	0.0002	0	0	0	0.0010	9.477e-05	0	7.393e-05	0	0	0.284	0.15303	T	0.266	0.22627	T	0.017	0.17573	B	0.008	0.13708	B	0.040941	0.24004	N	0.349373	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.34	0.16799	N	0.177	0.34874	-1.0354	0.18731	T	0.091	0.34928	T	9	0.028668374	0.00997	T	0.03856	0.58293	D	0.037	0.09474	.	.	0.306377322295	0.30243	0.43118203701857877	0.43035	0.148091011239	0.16702	0.543117582798	0.44886	T	0.034239	0.23242	T	-0.155682	0.27427	T	-0.461403	0.26446	T	0.0322800302768019	0.02352	T	0.834817	0.50504	T	0.049432237	0.08776	0.04743244	0.06829	0.049432237	0.08776	0.04743244	0.06829	-4.406	0.29638	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	3.268058	0.44723	22.0	0.60931569670915464	0.06584	0.24322	0.22357	N	AEFDBCI	0.211206	0.33701	N	-0.605775096290207	0.18769	0.9771535	-0.551610830492511	0.20764	1.12017	0.999999999962332	0.74766	0.712529	0.81865	0	0.694456	0.67091	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.04	5.04	0.67293	3.381000	0.52188	7.649000	0.63599	0.581000	0.30040	0.117000	0.23121	0.998000	0.33993	0.002000	0.04165	0.0:1.0:0.0:0.0	15.867	0.78850	73	0.96914	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	342.33	36	chr16	30005338	.	C	G	342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.954;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.38;SOR=0.569	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,967	18	0	1	0
chr16	30010033	30010033	G	T	exonic	DOC2A	.	nonsynonymous SNV	DOC2A:NM_001282068:exon2:c.C190A:p.P64T,DOC2A:NM_003586:exon2:c.C190A:p.P64T,DOC2A:NM_001282062:exon3:c.C190A:p.P64T,DOC2A:NM_001282063:exon3:c.C190A:p.P64T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0277063769461	.	.	8.706e-06	0	0	0	0	1.598e-05	0	0	6.5e-06	1	154602	rs745882272	5.48e-06	5.472e-06	4.089e-06	6.885e-06	0.0004	2.36e-06	1.7e-06	6.976e-05	2.912e-05	0	0	0	0	0	0.0004	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.181	0.29346	T	0.039	0.21116	B	0.01	0.14941	B	0.205536	0.16493	N	0.443700	0.929087	0.27104	N	0.255	0.09829	N	0.05	0.61923	T	-2.08	0.47514	N	0.209	0.23758	-1.0347	0.18951	T	0.123	0.42483	T	10	0.16103932	0.30216	T	0.027706	0.50487	D	0.046	0.12618	0.299	0.26522	0.705084282218	0.70252	0.4782069386018153	0.47740	0.404586298117	0.41356	0.651229858398	0.60160	T	0.100156	0.40566	T	-0.10059	0.36327	T	-0.382267	0.35457	T	0.129864696314409	0.15369	T	0.69753	0.30746	T	0.075018704	0.16873	0.07115847	0.15205	0.075018704	0.16873	0.07115847	0.15204	-4.928	0.36049	T	.	.	0.076	0.08176	B	.;.;.;.;.;.	.;.;.;.;.;.	3.466571	0.48338	22.6	0.96826703422138805	0.31248	0.65615	0.32797	D	AEFDBHCI	0.412760	0.48270	N	-0.34508515703845	0.27453	1.506334	-0.188560299091537	0.31956	1.813369	0.99999267626219	0.74766	0.635344	0.42169	0	0.59043	0.45803	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	4.23	3.22	0.36041	1.882000	0.39283	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2459:0.7541:0.0	9.100	0.35826	76	0.96806	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1042.33	41	chr16	30010033	.	G	T	1042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.139;DP=764;ExcessHet=0;FS=3.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.692;SOR=1.108	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1166	18	0	1	0
chr16	30069588	30069588	T	G	exonic	ALDOA	.	nonsynonymous SNV	ALDOA:NM_001127617:exon7:c.T714G:p.H238Q,ALDOA:NM_184041:exon7:c.T714G:p.H238Q,ALDOA:NM_184043:exon7:c.T714G:p.H238Q,ALDOA:NM_001243177:exon8:c.T876G:p.H292Q	Glycogen storage disease XII, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	1902722	HNSHA_due_to_aldolase_A_deficiency	MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.0583844828592	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs757739728	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	0	0	0	0	0.0007	9.892e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.719	0.06011	T	0.719	0.05901	T	0.002	0.09854	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	0.7	0.18542	N	-1.96	0.85091	D	-2.62	0.58569	D	0.398	0.45047	-0.8826	0.49553	T	0.279	0.65129	T	10	0.19132113	0.34814	T	0.058384	0.67299	D	0.394	0.70924	0.32	0.29902	0.617803836188	0.61470	0.5250713938625199	0.52431	.	.	0.731713533401	0.71757	T	0.697088	0.91244	D	-0.021008	0.48709	T	-0.252467	0.49573	T	0.069595918050248	0.08594	T	0.767723	0.39623	T	0.41106007	0.61490	0.3644174	0.61810	0.41106007	0.61491	0.3644174	0.61810	-3.802	0.20879	T	.	.	0.410	0.61480	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140018	0.03411	0.618	0.74906056284899747	0.10871	0.62837	0.31903	D	AEFDBHCIJ	0.782616	0.71385	D	-1.52130698026422	0.01710	0.07483863	-1.45806829928289	0.02698	0.124568	0.999999989737133	0.74766	0.722319	0.85440	0	0.67197	0.64623	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.91	-6.61	0.01652	-1.334000	0.02771	-2.790000	0.03358	-0.831000	0.02872	0.001000	0.13787	0.000000	0.08366	0.967000	0.53440	0.0:0.5811:0.0:0.4189	16.757	0.85363	96	0.96030	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	156	chr16	30069588	.	T	G	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.895;DP=809;ExcessHet=0;FS=3.092;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.863;SOR=0.482	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1476	18	0	1	0
chr16	30069641	30069641	C	T	exonic	ALDOA	.	nonsynonymous SNV	ALDOA:NM_001127617:exon7:c.C767T:p.A256V,ALDOA:NM_184041:exon7:c.C767T:p.A256V,ALDOA:NM_184043:exon7:c.C767T:p.A256V,ALDOA:NM_001243177:exon8:c.C929T:p.A310V	Glycogen storage disease XII, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1293178	not_provided|HNSHA_due_to_aldolase_A_deficiency	MedGen:C3661900|MONDO:MONDO:0012747,MedGen:C0272066,OMIM:611881,Orphanet:57	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.725	0.1537659325	.	.	4.148e-05	0.0002	0	0.0001	0	1.507e-05	0	6.065e-05	3.23e-05	5	154602	rs201658390	2.669e-05	2.668e-05	2.042e-05	3.301e-05	0.0002	1.998e-05	1.754e-05	0.0001	0.0001	5.974e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0	0.0002	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.827e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	2.94e-05	0	0	0.051	0.41096	T	0.319	0.22426	T	0.585	0.38912	P	0.084	0.29270	B	0.000000	0.84330	N	0.047613	1	0.81001	D	2.04	0.55661	M	-2.12	0.86283	D	-2.27	0.51811	N	0.699	0.70351	0.459	0.89964	D	0.687	0.89180	D	10	0.6690277	0.70600	D	0.153766	0.83498	D	0.725	0.90324	.	.	0.915446317744	0.91459	0.7305487787529904	0.72999	.	.	0.732154369354	0.71821	T	0.779994	0.94183	D	0.186532	0.72644	D	0.289843	0.87664	D	0.11820278472434	0.14253	T	0.90161	0.65919	D	0.62902933	0.74247	0.3840909	0.63358	0.62902933	0.74248	0.3840909	0.63358	-12.054	0.85113	D	.	.	0.664	0.71501	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.281850	0.65228	24.8	0.99873228258226787	0.95076	0.99434	0.95980	D	AEFDBHCI	0.964596	0.98676	D	0.435514042853291	0.63387	4.571382	0.559728631847813	0.72076	5.753299	1.0	0.98316	0.722319	0.85440	0	0.67197	0.64623	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.91	5.91	0.95240	7.836000	0.85003	5.984000	0.52218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	19.068	0.93102	96	0.96030	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1553.33	91	chr16	30069641	.	C	T	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=746;ExcessHet=0;FS=6.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.536;SOR=0.228	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1476	18	0	1	0
chr16	30121836	30121836	G	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.C341G:p.A114G,MAPK3:NM_001109891:exon2:c.C341G:p.A114G,MAPK3:NM_002746:exon2:c.C341G:p.A114G	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00831672813316	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs61736373	0.0002	0.0002	0.0002	0.0002	0.0043	0.0001	0.0001	0.0030	0.0026	0	0.0001	0	0	1.878e-05	0.0043	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.897e-05	4.809e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0006	0.288	0.15149	T	0.367	0.18018	T	0.0	0.14184	B	0.002	0.19048	B	0.001497	0.38855	N	0.290510	0.965175	0.81001	D	0.56	0.15190	N	0.99	0.41750	T	-1.08	0.31576	N	0.217	0.28616	-1.0581	0.12235	T	0.062	0.25994	T	10	0.11001718	0.20547	T	0.008317	0.22029	T	0.020	0.03691	.	.	0.780492144191	0.77847	0.11723864153372086	0.11651	0.658889439953	0.58774	0.514886856079	0.40907	T	0.166817	0.51321	T	-0.446337	0.01187	T	-0.562753	0.16119	T	0.0287946737972913	0.01806	T	0.89621	0.63872	D	0.2789433	0.50946	0.19636172	0.43362	0.2789433	0.50946	0.19636172	0.43361	-5.93	0.50101	T	.	.	0.081	0.11749	B	.;.;.;.;.	.;.;.;.;.	4.313605	0.65958	24.9	0.97427858710050308	0.33911	0.86912	0.46301	D	AEFDGBHCI	0.498334	0.53248	N	-0.0412861623660659	0.39992	2.367522	0.0857258348816602	0.43830	2.676668	0.99999960249252	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.48	4.5	0.54382	3.232000	0.51003	6.548000	0.55903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1438:0.5765:0.2797	8.710	0.33537	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	835.33	33	chr16	30121836	.	G	C	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.474;SOR=0.782	GT:AD:DP:GQ:PL	0/1:44,33:77:99:849,0,1101	18	0	1	0
chr16	30223129	30223129	C	T	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB13:NM_001321892:exon9:c.G3317A:p.R1106Q,NPIPB12:NM_001355401:exon11:c.G2687A:p.R896Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0566419822455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280636106	0.0004	0.0012	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0012	0.0005	0.0005	0.0001	0.0005	0	0.0003	0.0006	0.0006	0.0007	0.0007	0.0006	0.0008	0.0013	0.0001	4.8e-05	.	.	0.0006	0	0	0	0	0	0	0.0013	0	0	0.034	0.52492	D	0.011	0.64786	D	0.829	0.46068	P	0.614	0.51198	P	.	.	.	.	.	.	.	.	.	.	1.99	0.21666	T	-1.02	0.38540	N	0.068	0.04913	-1.0420	0.16711	T	0.053	0.22578	T	4	0.0057977736	0.00129	T	0.056642	0.66679	D	0.044	0.11924	.	.	0.0954503805726	0.09146	2.0962268660047775E-4	0.00018	.	.	.	.	.	0.02254	0.17359	T	-0.308668	0.07866	T	-0.681156	0.06914	T	0.115757460438805	0.14011	T	0.674133	0.28269	T	0.0819776	0.18862	0.10508846	0.25254	0.0819776	0.18862	0.10508846	0.25253	-7.79	0.59630	D	.	.	0.334	0.55528	B	.;.	.;.	1.900370	0.24136	16.28	0.99549346003346539	0.71023	0.00125	0.00780	N	AEFI	0.051310	0.09054	N	-0.411748019342282	0.25056	1.357388	-0.595556283821483	0.19608	1.052793	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.064000	0.14310	0.341000	0.17381	0.078000	0.17572	0.073000	0.22155	0.012000	0.20211	0.083000	0.17415	.	.	.	263	0.89692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	33.73	1	chr16	30223129	.	C	T	33.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=80;ExcessHet=0;FS=4.771;InbreedingCoeff=0.1025;MLEAC=1;MLEAF=0.028;MQ=22.05;MQRankSum=0.967;QD=11.24;ReadPosRankSum=-0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,68	17	0	1	1
chr16	30223211	30223255	CCCTCCGCCTCTTGGGTTTGGGTGATGATGGTTCCACGTCAGCGG	-	exonic	NPIPB12;NPIPB13	.	nonframeshift deletion	NPIPB13:NM_001321892:exon9:c.3191_3235del:p.A1064_R1078del,NPIPB12:NM_001355401:exon11:c.2561_2605del:p.A854_R868del	.	1236	283	0	3	0	6	0.0104895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0003	0.0038	0.0040	0.0161	0.0030	0.0026	0.0055	0.0039	0	0.0011	0	0.0161	0	0	0.0060	0	0.0007	0	0.0010	0	0	.	0	0	.	.	0	0	0	.	.	0	0	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	71.43	2	chr16	30223210	.	ACCCTCCGCCTCTTGGGTTTGGGTGATGATGGTTCCACGTCAGCGG	A	71.43	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=60;ExcessHet=0;FS=0;InbreedingCoeff=0.0689;MLEAC=2;MLEAF=0.071;MQ=36.77;MQRankSum=0.967;QD=23.81;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:2,0:2:0:0,0,0	13	0	1	5
chr16	30231760	30231760	G	T	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon4:c.C337A:p.R113S,NPIPB13:NM_001321892:exon5:c.C337A:p.R113S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00745545608796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.186	0.28860	T	0.06	0.23119	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	1.0	0.41392	T	-2.4	0.52776	N	0.204	0.22742	-1.0359	0.18575	T	0.059	0.24686	T	6	0.15184423	0.28694	T	0.007455	0.19765	T	0.064	0.18567	0.602	0.73346	0.0716867268079	0.06686	0.006540373794900217	0.00622	.	.	.	.	.	0.018555	0.14935	T	-0.241122	0.15206	T	-0.584131	0.14177	T	0.0412370281216534	0.03914	T	0.631037	0.26618	T	0.25716707	0.48759	0.16959192	0.39004	0.25716707	0.48759	0.16959192	0.39004	-4.373	0.29188	T	.	.	0.736	0.74455	P	.;.	.;.	0.634508	0.10029	6.781	0.48327782686737081	0.04024	0.00252	0.01388	N	AEFI	0.045348	0.07407	N	-1.16663466792129	0.05511	0.2514522	-1.33062660413967	0.04039	0.1897123	1.36754740280715E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.532	-1.06	0.09491	-0.027000	0.12319	-2.858000	0.03289	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	265	0.89590	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	341.32	1	chr16	30231760	.	G	T	341.32	.	AC=1;AF=0.063;AN=16;BaseQRankSum=6.08;DP=153;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=22.78;MQRankSum=0.69;QD=6.83;ReadPosRankSum=-0.445;SOR=0.286	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	7	0	1	11
chr16	30510917	30510917	A	G	exonic	ITGAL	.	nonsynonymous SNV	ITGAL:NM_001114380:exon21:c.A2404G:p.S802G,ITGAL:NM_002209:exon23:c.A2656G:p.S886G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0339456783903	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774887449	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.34982	T	0.707	0.31629	T	0.019	0.31074	B	0.022	0.38155	B	0.030788	0.25258	N	0.344889	0.954393	0.26371	N	2.075	0.57047	M	0.67	0.52187	T	-1.49	0.36980	N	0.077	0.13484	-1.0100	0.26917	T	0.116	0.40919	T	10	0.13132253	0.24993	T	0.033946	0.55339	D	0.057	0.16321	0.575	0.69957	0.618957995044	0.61587	0.29656703534388323	0.29569	0.305546534746	0.32858	0.358448654413	0.19159	T	0.109617	0.42363	T	-0.26382	0.12457	T	-0.519881	0.20307	T	0.305750399827957	0.25240	T	0.731327	0.34690	T	0.25886375	0.48937	0.22019182	0.46785	0.25886375	0.48937	0.22019182	0.46784	-6.125	0.47314	T	.	.	0.088	0.18331	B	.;.;.	.;.;.	2.072605	0.26359	17.09	0.979520610746624	0.37107	0.71368	0.34983	D	AEFBI	0.493697	0.52980	N	-0.289489168746382	0.29553	1.639903	-0.21218030754348	0.31098	1.75679	0.450001897698714	0.20531	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.4	3.29	0.36801	2.435000	0.44469	4.102000	0.41870	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.8784:0.0:0.1216:0.0	6.371	0.20684	277	0.89083	Integrin alpha-2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1820.33	38	chr16	30510917	.	A	G	1820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.003;DP=785;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.55;SOR=0.805	GT:AD:DP:GQ:PL	0/1:59,74:133:99:1834,0,1658	18	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.02632	958.33	55	chr16	30525595	.	T	C	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-2.158;SOR=0.693	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr16	30532743	30532743	-	CAC	exonic	ZNF747	.	nonframeshift insertion	ZNF747:NM_001305018:exon3:c.751_752insGTG:p.T251delinsSA,ZNF747:NM_001305019:exon3:c.748_749insGTG:p.T250delinsSA	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.193e-07	6.84e-07	0	1.458e-06	1.26e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.26e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1366.29	38	chr16	30532743	.	G	GCAC	1366.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=736;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.824;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	18	0	1	0
chr16	30533150	30533150	T	C	exonic;splicing	ZNF747;ZNF747	NM_001305020:exon2:c.484-2A>G;NM_001305019:exon3:c.344-2A>G	nonsynonymous SNV	ZNF747:NM_023931:exon2:c.A485G:p.Q162R	.	.	.	.	.	.	.	.	0.0044	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00903536066626	7.7e-05	.	2.489e-05	0	8.673e-05	0	0	3.026e-05	0	0	3.23e-05	5	154602	rs142751951	5.617e-05	5.609e-05	5.316e-05	5.921e-05	8.123e-05	4.616e-05	4.242e-05	5.422e-05	4.966e-05	0	2.236e-05	0	0	0	0	6.655e-05	0	8.123e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.635	0.07082	T	0.993	0.65571	D	0.968	0.71741	D	.	.	.	.	1	0.81001	D	.	.	.	4.42	0.02177	T	-0.07	0.08033	N	0.092	0.07125	-0.7808	0.56257	T	0.009	0.03403	T	9	0.1212191	0.22975	T	0.009035	0.23774	T	0.084	0.24469	.	.	0.0846915920261	0.08053	.	.	0.464182154052	0.45893	0.357549726963	0.19029	T	0.017761	0.14435	T	-0.139887	0.29908	T	-0.308263	0.43845	T	0.147344030102813	0.16890	T	0.208179	0.02493	T	0.23017287	0.45767	0.2974804	0.55781	0.23017287	0.45767	0.2974804	0.55780	-2.093	0.03554	T	.	.	0.129	0.27463	B	.	.	2.292604	0.29327	18.09	0.90079053825550282	0.19363	0.75254	0.36837	D	AEFDBI	0.145602	0.26885	N	-0.177244824605908	0.34085	1.941234	-0.233160870499595	0.30356	1.708465	0.999892243295743	0.45129	0.493124	0.18060	0	0.587265	0.34161	0	0.576033	0.28219	0	0.322989	0.05693	1	.	.	2.73	2.73	0.31266	1.072000	0.30290	4.570000	0.43877	0.366000	0.20181	0.006000	0.17386	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.0:1.0	8.906	0.34683	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	38	chr16	30533150	.	T	C	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.364;DP=772;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.123;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	18	0	1	0
chr16	30534482	30534482	C	G	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon1:c.G198C:p.M66I,ZNF747:NM_001305019:exon1:c.G198C:p.M66I,ZNF747:NM_001305020:exon1:c.G198C:p.M66I,ZNF747:NM_023931:exon1:c.G198C:p.M66I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00649608325167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.92824	D	0.961	0.55431	D	0.794	0.66466	P	.	.	.	.	0.999507	0.21084	N	2.52	0.73523	M	4.07	0.03033	T	-4.0	0.74051	D	0.614	0.68690	-1.1293	0.01816	T	0.041	0.17785	T	9	0.67322695	0.70838	D	0.006496	0.17100	T	0.142	0.37995	0.771	0.89767	0.281780670237	0.27795	0.610735642326354	0.61005	0.9077017835	0.70913	0.863229751587	0.91586	D	0.117014	0.43679	T	0.00349927	0.52135	T	-0.23275	0.51505	T	0.993381142616272	0.84163	D	0.835616	0.50622	T	0.820908	0.85281	0.89927006	0.94924	0.820908	0.85282	0.89927006	0.94924	-9.265	0.69387	D	.	.	0.986	0.92581	P	.;.;.	.;.;.	4.872602	0.79845	27.2	0.994905885723395	0.67403	0.38387	0.25977	N	ALL	0.083165	0.16847	N	0.385113048418276	0.60616	4.252351	0.228879920620435	0.51457	3.327978	0.99999999988896	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.5	2.5	0.29355	1.756000	0.38018	7.276000	0.58006	0.333000	0.19617	0.987000	0.36337	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	8.609	0.32950	214	0.91692	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	37	chr16	30534482	.	C	G	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=754;ExcessHet=0;FS=6.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.785;SOR=0.333	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1193	18	0	1	0
chr16	30534567	30534567	C	T	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon1:c.G113A:p.S38N,ZNF747:NM_001305019:exon1:c.G113A:p.S38N,ZNF747:NM_001305020:exon1:c.G113A:p.S38N,ZNF747:NM_023931:exon1:c.G113A:p.S38N	.	334	1183	3	2	0	7	0.00294985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.0105831	0.0098	0	0.0005	0.0002	0	0.0001	0.0043	0.0545	0.0053169	822	154602	rs372705822	0.0025	0.0026	0.0015	0.0035	0.0404	0.0024	0.0024	0.0393	0.0388	6.004e-05	9.096e-05	0	5.083e-05	0	0.0017	1.172e-05	0.0032	0.0404	0.0013	0.0013	0.0007	0.0020	0.0396	0.0012	0.0011	0.0350	0.0332	0.0001	0	0	0	0.0004	0	0	2.94e-05	0.0005	0.0396	0.019	0.50132	D	0.043	0.49942	D	0.026	0.19406	B	0.047	0.27757	B	.	.	.	.	0.998942	0.21775	N	1.98	0.53716	M	4.57	0.01917	T	-1.78	0.42001	N	0.11	0.11340	-1.0127	0.26070	T	0.012	0.04747	T	9	0.0042467117	0.00085	T	.	.	.	0.072	0.21020	.	.	0.126345400529	0.12197	0.29302030541785823	0.29215	0.234505343878	0.25988	0.659446716309	0.61329	T	0.025454	0.19032	T	-0.549018	0.00296	T	-0.529987	0.19287	T	0.0325358953936226	0.02394	T	0.466753	0.13720	T	0.16604364	0.36916	0.20168263	0.44161	0.16604364	0.36915	0.20168263	0.44160	-7.638	0.58771	D	.	.	0.380	0.60475	A	.;.;.	.;.;.	2.387315	0.30655	18.50	0.96777666632083759	0.31061	0.03478	0.08638	N	AEFDGBHCI	0.163597	0.28990	N	-0.588946057698609	0.19278	1.007766	-0.666951451628815	0.17789	0.9474677	0.999999999884014	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.5	1.48	0.21900	0.213000	0.17310	0.773000	0.21413	0.333000	0.19617	0.002000	0.15269	0.616000	0.25792	0.062000	0.16114	0.0:0.7126:0.2874:0.0	6.975	0.23850	214	0.91692	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2689.33	37	chr16	30534567	.	C	T	2689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.397;DP=831;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.666;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1193	18	0	1	0
chr16	30555969	30555969	A	C	exonic	ZNF764	.	nonsynonymous SNV	ZNF764:NM_001172679:exon3:c.T449G:p.L150R,ZNF764:NM_033410:exon3:c.T452G:p.L151R	.	425	1063	32	2	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0043	0.00499201	0.0039	0.0092	0.0007	0.0001	0.0009	0.0028	0.0081	0.0099	0.0034993	541	154602	rs145819551	0.0022	0.0022	0.0019	0.0025	0.0107	0.0022	0.0021	0.0101	0.0099	0.0094	0.0012	0.0065	0.0002	0.0008	0.0100	0.0013	0.0034	0.0107	0.0041	0.0041	0.0042	0.0040	0.0098	0.0039	0.0038	0.0086	0.0083	0.0094	0	0.0022	0.0069	0	0.0008	0.0205	0.0017	0.0038	0.0098	0.344	0.12552	T	0.38	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.252272	0.15484	N	0.480260	1	0.08975	N	0.69	0.16971	N	3.28	0.06681	T	-0.87	0.23590	N	0.165	0.20528	-0.9800	0.35002	T	0.008	0.02926	T	10	0.0039159954	0.00075	T	.	.	.	0.022	0.04323	.	.	0.149567049428	0.14543	0.2104401489772542	0.20960	0.290997932504	0.31501	0.416627287865	0.27373	T	0.006149	0.05589	T	-0.663892	0.00060	T	-0.71845	0.04871	T	6.68280772515573e-05	0.00001	T	0.112089	0.00848	T	0.0801973	0.18363	0.07744414	0.17252	0.0801973	0.18363	0.07744414	0.17251	-1.919	0.02889	T	.	.	0.064	0.01668	B	.;.	.;.	-0.358155	0.02373	0.261	0.37152096643439436	0.02431	0.02813	0.07543	N	AEFDBI	0.042603	0.06630	N	-1.41135848690446	0.02538	0.112211	-1.41896193510169	0.03063	0.1421382	0.94258433574434	0.27528	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.94	-0.749	0.10525	-0.473000	0.06694	-0.370000	0.09613	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2684:0.2909:0.4407:0.0	4.815	0.12728	213	0.91726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.021739	0.023392	0.000000	0.025862	0.003067	0.003788	0.02632	853.33	47	chr16	30555969	.	A	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.12;DP=761;ExcessHet=0;FS=1.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.62;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1461	18	0	1	0
chr16	30582735	30582735	C	A	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.G1043T:p.G348V	.	429	1077	16	0	0	16	0.00737327	.	.	.	2427630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00412878633808	.	0.000199681	0.0005	0	0.0003	0	0	0.0006	0	0.0009	0.0003687	57	154602	rs138958454	0.0003	0.0003	0.0002	0.0004	0.0082	0.0003	0.0003	0.0063	0.0057	8.973e-05	0.0002	0.0011	0	1.88e-05	0.0082	0.0002	0.0006	0.0011	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	0	0	6.53e-05	0	0.0002	0	0.0034	0.0003	0.0014	0.0006	0.192	0.20988	T	0.239	0.24767	T	0.386	0.34500	B	0.165	0.46123	B	.	.	.	.	0.999988	0.18198	N	0.49	0.13296	N	2.3	0.16953	T	-1.95	0.45222	N	0.255	0.28849	-0.9526	0.40520	T	0.034	0.14509	T	9	0.029966295	0.01123	T	0.004129	0.09900	T	0.052	0.14661	.	.	0.0716867268079	0.06686	0.04366907950797636	0.04311	1.1161536407	0.78175	0.381710320711	0.22500	T	0.018969	0.15199	T	-0.483231	0.00708	T	-0.543609	0.17943	T	0.0342564937246881	0.02681	T	0.749125	0.37025	T	0.058755286	0.11860	0.060200617	0.11427	0.058755286	0.11859	0.060200617	0.11426	-7.771	0.59713	D	.	.	0.335	0.61295	B	.;.	.;.	0.767927	0.11380	7.992	0.94824125252135383	0.25597	0.05953	0.11911	N	AEFBI	0.097057	0.19584	N	-1.07391625598146	0.07127	0.3301553	-1.11003738978073	0.07508	0.3654615	0.00329662087455733	0.10040	0.562547	0.31514	0	0.577304	0.33150	0	0.465395	0.07113	1	0.635551	0.53088	0	.	.	4.23	-0.275	0.12268	0.831000	0.27129	-1.224000	0.05978	-0.926000	0.02173	0.278000	0.25122	0.000000	0.08366	0.062000	0.16114	0.0:0.4476:0.4617:0.0907	8.908	0.34694	176	0.93188	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1433.33	33	chr16	30582735	.	C	A	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.552;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.797;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	30651858	30651858	G	A	exonic	PRR14	.	nonsynonymous SNV	PRR14:NM_001320464:exon3:c.G86A:p.S29N,PRR14:NM_024031:exon3:c.G86A:p.S29N	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.017517997946	.	.	8.758e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750655752	9.622e-06	9.577e-06	1.231e-05	6.908e-06	0.0003	5.58e-06	4.37e-06	6.131e-05	2.536e-05	0	0	0	2.526e-05	0	0.0003	7.203e-06	4.979e-05	0	1.97e-05	1.969e-05	1.285e-05	2.687e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0009	0	0.006	0.68238	D	0.109	0.92824	T	0.982	0.60036	D	0.832	0.59730	P	0.004870	0.33312	N	0.210805	0.99694	0.22847	N	2.32	0.66415	M	0.59	0.53943	T	-2.12	0.56466	N	0.543	0.57006	-0.9198	0.45581	T	0.210	0.56973	T	10	0.24080163	0.41247	T	0.017518	0.39251	T	0.103	0.29403	0.148	0.05138	0.638579438245	0.63560	0.23326119055605593	0.23241	0.58721386273	0.54309	0.613195598125	0.54767	T	0.035178	0.23617	T	-0.337059	0.05594	T	-0.549481	0.17376	T	0.784576505543151	0.45338	D	0.70183	0.32156	T	0.0817701	0.18804	0.08567237	0.19797	0.0817701	0.18804	0.08567237	0.19796	-5.9	0.45435	T	.	.	0.510	0.65038	A	.;.;.;.	.;.;.;.	3.844584	0.55656	23.6	0.99656304633468829	0.77631	0.49725	0.28499	N	AEFDGBCI	0.128665	0.24653	N	0.451888287940108	0.64310	4.682666	0.422369757886461	0.62960	4.520778	0.999999921099802	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	5.38	2.75	0.31439	1.585000	0.36210	4.770000	0.44768	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.1003:0.2781:0.6216:0.0	6.326	0.20449	48	0.97687	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1510.33	37	chr16	30651858	.	G	A	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.22;DP=747;ExcessHet=0;FS=1.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.123;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,58:103:99:1524,0,1162	18	0	1	0
chr16	30652835	30652835	C	A	exonic	PRR14	.	nonsynonymous SNV	PRR14:NM_001320464:exon4:c.C307A:p.Q103K,PRR14:NM_024031:exon4:c.C307A:p.Q103K	.	424	1093	4	1	0	6	0.00273723	.	.	.	2762592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00717022077571	.	0.000199681	7.467e-05	9.819e-05	8.682e-05	0	0	9.059e-05	0	6.064e-05	8.41e-05	13	154602	rs199988594	7.457e-05	7.456e-05	7.351e-05	7.563e-05	0.0002	6.315e-05	5.873e-05	7.509e-05	7e-05	0	6.71e-05	3.829e-05	0	0	0.0002	8.993e-05	4.967e-05	1.159e-05	0.0001	0.0001	0.0002	9.395e-05	0.0002	8.16e-05	6.718e-05	9.047e-05	7.011e-05	7.215e-05	0	0.0001	0	0	0	0	0.0002	0.0009	0.0002	0.097	0.31088	T	0.822	0.53072	T	0.386	0.34500	B	0.085	0.29395	B	0.222571	0.16104	N	0.548566	1	0.08975	N	2.395	0.69210	M	0.88	0.46028	T	-2.55	0.59059	D	0.17	0.18103	-1.0122	0.26228	T	0.091	0.34792	T	10	0.044191897	0.03349	T	0.00717	0.19006	T	0.043	0.11576	.	.	0.201204373187	0.19734	0.20780289948028943	0.20696	0.304373407854	0.32745	0.335758388042	0.15802	T	0.139257	0.47318	T	-0.37172	0.03508	T	-0.535058	0.18784	T	0.0370755645613852	0.03168	T	0.490351	0.15073	T	0.11566073	0.27290	0.05277172	0.08761	0.11566073	0.27290	0.05277172	0.08760	-4.258	0.27584	T	.	.	0.072	0.13969	B	.;.;.;.	.;.;.;.	0.176374	0.05646	2.096	0.40594290008315942	0.02875	0.06737	0.12759	N	AEFBI	0.097162	0.19602	N	-1.27567184389841	0.03971	0.1783515	-1.32119553350296	0.04157	0.1954761	0.999648667251767	0.41316	0.722319	0.85440	0	0.685571	0.66316	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	5.5	1.27	0.20595	0.246000	0.17935	0.773000	0.21413	-2.146000	0.00375	0.130000	0.23345	0.831000	0.27213	0.067000	0.16453	0.2284:0.5741:0.1218:0.0757	5.364	0.15406	46	0.97728	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2132.33	34	chr16	30652835	.	C	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=831;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.358;SOR=0.639	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1320	18	0	1	0
chr16	30660331	30660331	G	T	exonic	FBRS	.	nonsynonymous SNV	FBRS:NM_001105079:exon2:c.G528T:p.R176S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0767448949053	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs546150825	7.828e-06	1.094e-05	3.335e-06	1.273e-05	0.0001	3.68e-06	2.67e-06	2.94e-05	1.514e-05	0	0	0	0.0001	0	0	6.329e-06	0	0	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0004	5.24e-06	2.45e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	0	0	0.0002	0.002	0.72154	D	0.144	0.33109	T	.	.	.	.	.	.	0.278078	0.14997	U	0.222141	1	0.81001	D	.	.	.	0.92	0.44461	T	-2.85	0.60029	D	0.368	0.40963	-0.9360	0.43241	T	0.152	0.48118	T	7	0.15487778	0.29205	T	0.076745	0.72604	D	0.144	0.38394	0.339	0.32979	0.0934897674506	0.08844	0.42201446658187197	0.42118	2.6155260816	0.98254	.	.	.	.	.	.	-0.173326	0.24732	T	-0.486747	0.23732	T	0.777904570102692	0.44920	D	0.738026	0.35555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.768	0.75855	P	.	.	4.030122	0.59586	24.1	0.98268804283562317	0.39740	0.72304	0.35395	D	AEFDGBCI	0.494907	0.53050	N	-0.0914743440183641	0.37766	2.201948	-0.0715608876948593	0.36570	2.130016	0.999999975336039	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.56214	0.19341	0	.	.	3.89	2.93	0.33092	2.299000	0.43271	5.905000	0.50941	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1071:0.0:0.8929:0.0	9.197	0.36399	35	0.98078	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1568.33	33	chr16	30660331	.	G	T	1568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.239;DP=1000;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.59;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1438	18	0	1	0
chr16	30716132	30716132	G	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon17:c.G2560C:p.E854Q	Floating-Harbor syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3711686	Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities|Floating-Harbor_syndrome	MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.810	0.215379527557	.	.	.	.	.	.	.	.	.	.	.	.	.	rs996681890	4.104e-06	4.104e-06	1.361e-06	6.875e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	D	0.000000	1	0.81001	D	3.14	0.88230	M	-1.25	0.79072	T	-2.86	0.60188	D	0.747	0.76853	0.462	0.89999	D	0.671	0.88594	D	10	0.8463007	0.83796	D	0.21538	0.87505	D	0.810	0.93854	0.723	0.85761	0.634148587145	0.63114	0.7845267307208892	0.78403	0.529892985118	0.50547	0.850178360939	0.89642	D	0.759567	0.93476	D	0.218513	0.75636	D	0.25763	0.85984	D	0.830170929431915	0.48543	D	0.995238	0.98377	D	0.8780056	0.89504	0.6557366	0.79843	0.8780056	0.89505	0.6557366	0.79844	-13.5	0.91317	D	0.4719614492503036	0.55224	0.981	0.91385	P	.;.	.;.	4.859931	0.79517	27.1	0.99725662555792638	0.82406	0.99569	0.97542	D	AEFGBI	0.891731	0.82798	D	0.94759596091572	0.93888	12.34847	0.903347974075505	0.95715	13.89563	0.999999999999979	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.078000	0.89313	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.783	0.88439	10	0.99061	SNF2-related, N-terminal domain;SNF2-related, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1388.33	35	chr16	30716132	.	G	C	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.41;DP=736;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.279;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1403	18	0	1	0
chr16	30784160	30784160	C	G	exonic	ZNF629	.	nonsynonymous SNV	ZNF629:NM_001080417:exon3:c.G168C:p.K56N,ZNF629:NM_001345970:exon3:c.G126C:p.K42N	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0183768685445	0.0005	.	0.0007	0	0.0004	0	0.0002	0.0012	0.0029	0	0.0005692	88	154602	rs199766404	0.0014	0.0014	0.0015	0.0013	0.0017	0.0013	0.0013	0.0017	0.0016	0.0002	0.0004	0	0	0.0004	0	0.0017	0.0013	2.335e-05	0.0007	0.0007	0.0008	0.0006	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0002	0	0	9.416e-05	0	0.0014	0.0014	0	0.005	0.63226	D	0.102	0.38450	T	0.999	0.77913	D	0.972	0.72692	D	0.000448	0.44317	D	0.000000	0.975187	0.39167	D	0.805	0.20218	L	2.99	0.09262	T	-0.46	0.14978	N	0.278	0.31478	-1.0937	0.04944	T	0.041	0.17488	T	10	0.06311667	0.08175	T	0.018377	0.40424	T	0.083	0.24192	0.256	0.19689	0.179529687257	0.17594	0.3786129169604143	0.37776	2.21200435668	0.95776	0.530608594418	0.43120	T	0.003022	0.02422	T	-0.58395	0.00182	T	-0.652113	0.08806	T	0.0644549508798735	0.07850	T	0.712529	0.32403	T	0.21010895	0.43298	0.13203414	0.31693	0.21010895	0.43298	0.13203414	0.31692	-4.38	0.29285	T	.	.	0.248	0.48313	B	.	.	3.304798	0.45380	22.1	0.99764062876694248	0.85335	0.94034	0.59914	D	AEFDBI	0.293512	0.40412	N	0.224340279545603	0.52381	3.412624	0.207442535727153	0.50260	3.219908	0.989583846815906	0.31872	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.94	3.99	0.45527	1.940000	0.39851	3.968000	0.40802	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.9137:0.0:0.0863	11.851	0.51686	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4705.77	33	chr16	30784160	.	C	G	4705.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.272;DP=826;ExcessHet=0;FS=4.037;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=-1.14;SOR=0.733	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	1	1	0
chr16	30979375	30979375	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C3589T:p.R1197C	.	415	1103	4	0	0	4	0.00180995	.	.	.	2411094	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.290	0.578688079365	.	0.000998403	0.0002	0	0	0.0001	0	0.0002	0	0.0006	0.0001811	28	154602	rs537371612	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0006	0.0005	0	0	0	0.0001	0	0.0007	8.547e-05	0.0002	0.0007	7.22e-05	7.217e-05	6.422e-05	8.054e-05	0.0008	3.967e-05	3.124e-05	0.0003	0.0002	2.404e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0008	0.002	0.72154	D	0.067	0.44302	T	0.078	0.24389	B	0.006	0.12133	B	0.066721	0.21790	N	0.460605	0.99952	0.21065	N	0.895	0.22405	L	-3.51	0.94693	D	-1.55	0.37566	N	0.511	0.54234	-0.0362	0.81500	T	0.673	0.88669	D	10	0.04736358	0.04044	T	0.578688	0.96217	D	0.290	0.60924	0.324	0.30549	0.386522206555	0.38262	0.4157694126210374	0.41492	0.304605667835	0.32764	0.647132754326	0.59578	T	0.052977	0.29314	T	-0.137997	0.30208	T	-0.0842806	0.64589	T	0.0527927689254284	0.05984	T	0.838916	0.51225	T	0.1440376	0.33080	0.081097394	0.18402	0.1440376	0.33079	0.081097394	0.18402	-6.148	0.47501	T	.	.	0.166	0.36574	B	.	.	3.622748	0.51274	23.1	0.9494638875704895	0.25847	0.21479	0.21416	N	AEFBI	0.072046	0.14365	N	-0.430368518024628	0.24411	1.317856	-0.342778653818814	0.26732	1.47854	0.990651144862515	0.32225	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	5.03	5.03	0.67015	0.916000	0.28273	3.173000	0.36621	0.599000	0.40250	0.883000	0.31049	1.000000	0.68203	0.254000	0.23365	0.1701:0.8299:0.0:0.0	12.266	0.53998	36	0.98055	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1533.33	34	chr16	30979375	.	C	T	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.247;DP=737;ExcessHet=0;FS=3.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.059;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	18	0	1	0
chr16	30979984	30979984	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C4198T:p.R1400C	.	631	884	6	1	0	8	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	.	0.0161741	0.0490	0	0.025	0	0	0.0004	0.0213	0.0713	0.0042626	659	154602	rs557095006	0.0041	0.0040	0.0022	0.0061	0.0707	0.0040	0.0040	0.0691	0.0684	0.0002	0.0001	8.625e-05	0	2.445e-05	0.0008	8.09e-05	0.0040	0.0707	0.0036	0.0036	0.0021	0.0051	0.0839	0.0033	0.0032	0.0771	0.0745	0.0001	0.1311	0.0002	0	0.0002	0	0	0.0001	0.0005	0.0839	0.005	0.63226	D	0.172	0.30241	T	0.431	0.35606	B	0.109	0.31370	B	0.006738	0.31837	N	0.250098	0.99999	0.58761	D	0.55	0.14455	N	0.43	0.56772	T	-1.21	0.30762	N	0.163	0.17140	-1.0382	0.17863	T	0.081	0.32002	T	10	0.0017291903	0.00022	T	.	.	.	0.102	0.29158	.	.	.	.	0.5353472984659371	0.53459	0.304605667835	0.32764	0.855499386787	0.90442	D	0.026785	0.19750	T	-0.479926	0.00740	T	-0.407084	0.32562	T	0.0169524249608776	0.00446	T	0.761624	0.38671	T	0.099416025	0.23461	0.055610847	0.09786	0.099416025	0.23461	0.055610847	0.09786	-6.97	0.53814	T	.	.	0.303	0.53261	B	.	.	2.642810	0.34393	19.61	0.79431878100807918	0.12739	0.34742	0.25139	N	AEFDBHCI	0.125505	0.24204	N	-0.703605897555126	0.15920	0.8066206	-0.747253410266405	0.15789	0.8321826	0.99999734650294	0.74766	0.696267	0.57585	0	0.71359	0.82159	0	0.691665	0.62940	0	0.491896	0.07777	0	.	.	3.96	2.97	0.33479	0.655000	0.24618	3.711000	0.39556	0.518000	0.23583	0.021000	0.19753	1.000000	0.68203	0.016000	0.10718	0.387:0.613:0.0:0.0	9.788	0.39856	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011348	0.000000	0.003984	0.008130	0.000000	0.000000	0.000000	0.049020	0.02632	608.38	22	chr16	30979984	.	C	T	608.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.172;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:75:.:.:0,75,839:.	18	0	1	0
chr16	31078977	31078977	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C2653T:p.L885F	.	.	.	.	.	.	.	.	.	.	.	4096614	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00732010461719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359584428	2.062e-06	2.052e-06	1.366e-06	2.767e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.169	0.23007	T	0.459	0.27591	T	0.738	0.42905	P	0.359	0.43123	B	.	.	.	.	0.822688	0.28862	N	1.545	0.39105	L	1.56	0.29602	T	-1.3	0.33401	N	0.455	0.49237	-1.0402	0.17253	T	0.068	0.28013	T	9	0.31874245	0.49269	T	0.00732	0.19415	T	0.045	0.12272	0.387	0.40788	0.59123100597	0.58800	0.1358774199460159	0.13511	0.783494048791	0.65400	0.632814645767	0.57544	T	0.005413	0.04862	T	-0.148566	0.28538	T	-0.451181	0.27566	T	0.852024078369141	0.50341	D	0.785621	0.42343	T	0.10069483	0.23779	0.15228622	0.35836	0.10069483	0.23778	0.15228622	0.35836	-3.408	0.15164	T	.	.	0.305	0.55313	B	.;.	.;.	3.840034	0.55556	23.6	0.99882768495516028	0.95892	0.79382	0.39325	D	AEFBCI	0.122459	0.23761	N	0.227536028312275	0.52536	3.427273	0.317443627235464	0.56565	3.819948	0.999520588858424	0.40175	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.25	5.25	0.73169	1.041000	0.29901	.	.	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.9153:0.0:0.0847	11.842	0.51633	41	0.97903	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr16	31078977	.	C	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.367;DP=984;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.956;SOR=0.49	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1013	18	0	1	0
chr16	31081253	31081253	G	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G4929C:p.E1643D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00339754602589	.	.	8.583e-06	0	0	0	0	0	0	7.225e-05	6.5e-06	1	154602	rs558009960	3.448e-06	3.42e-06	1.37e-06	5.555e-06	4.696e-05	1.01e-06	7.3e-07	1.596e-05	9.39e-06	0	0	0	0	0	0	0	1.674e-05	4.696e-05	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.109	0.36912	T	0.043	0.49942	D	0.634	0.40281	P	0.167	0.35118	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	2.98	0.09356	T	-1.1	0.28497	N	0.043	0.02559	-0.9908	0.32398	T	0.017	0.06807	T	9	0.07988185	0.12903	T	0.003398	0.07633	T	0.044	0.11924	0.186	0.09517	0.448000600372	0.44423	0.13854412568569768	0.13777	0.178043713789	0.20030	0.279257982969	0.07389	T	0.017141	0.14038	T	-0.424227	0.01608	T	-0.663758	0.08015	T	0.0789898362714215	0.09857	T	0.686231	0.29475	T	0.09580425	0.22556	0.09317502	0.21994	0.09580425	0.22555	0.09317502	0.21993	-4.76	0.34121	T	.	.	0.127	0.27069	B	.;.	.;.	0.817983	0.11893	8.456	0.92962364793246899	0.22538	0.23870	0.22214	N	AEFDBCI	0.074613	0.14960	N	-0.398179931003507	0.25534	1.38679	-0.371618281148717	0.25847	1.423963	0.998641662617741	0.37371	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.54	2.05	0.25860	0.928000	0.28431	.	.	0.672000	0.70159	0.151000	0.23669	0.607000	0.25749	0.874000	0.41677	0.2953:0.0:0.7047:0.0	8.084	0.29924	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	42	chr16	31081253	.	G	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.058;DP=763;ExcessHet=0;FS=4.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.006;SOR=0.583	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1013	18	0	1	0
chr16	31081270	31081270	C	G	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4946G:p.P1649R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00574272071681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.46910	T	0.126	0.35205	T	0.513	0.37366	P	0.238	0.38539	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.84	0.10674	T	-1.23	0.31170	N	0.091	0.06990	-0.9795	0.35117	T	0.019	0.08173	T	9	0.10804215	0.20095	T	0.005743	0.14892	T	0.053	0.14996	0.264	0.20946	0.407901774203	0.40404	0.3210136649148717	0.32014	0.227428416323	0.25295	0.232673346996	0.02172	T	0.017635	0.14352	T	-0.280393	0.10627	T	-0.640541	0.09630	T	0.170776387823167	0.18632	T	0.70423	0.31438	T	0.04450847	0.07126	0.043195184	0.05317	0.04450847	0.07126	0.043195184	0.05317	-3.739	0.19895	T	.	.	0.096	0.15206	B	.;.	.;.	0.039862	0.04565	1.248	0.84449885596402519	0.15298	0.25984	0.22861	N	AEFDBCI	0.075761	0.15222	N	-0.608929570392151	0.18676	0.9714662	-0.630093189538726	0.18722	1.001373	0.999790158673374	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.8	3.85	0.43556	-0.339000	0.07878	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.166:0.7497:0.0:0.0843	7.403	0.26150	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	794.33	42	chr16	31081270	.	C	G	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=761;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.523;SOR=0.599	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1013	18	0	1	0
chr16	31135163	31135163	C	T	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon2:c.G94A:p.G32R	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0457161766828	.	0.000399361	0.0006	0	0.0004	0	0	6.586e-05	0.0026	0.0042	0.0004786	74	154602	rs201632910	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	0	0	0.0007	2.789e-05	0.0003	0.0038	0.0001	0.0001	3.854e-05	0.0002	0.0033	8.658e-05	7.251e-05	0.0021	0.0017	0	0	0	0	0	0	0	5.88e-05	0	0.0033	0.27	0.38863	T	0.337	0.18178	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	-3.07	0.92508	D	-0.31	0.26639	N	0.232	0.31027	-0.6257	0.63751	T	0.521	0.82134	D	9	0.0056170523	0.00125	T	0.045716	0.62114	D	0.295	0.61502	0.357	0.35897	0.765495324787	0.76335	0.43912331060736237	0.43829	0.33268649103	0.35316	0.32183688879	0.13699	T	0.145413	0.48253	T	-0.258376	0.13090	T	-0.144197	0.59753	T	0.0281861400887037	0.01715	T	0.489851	0.15873	T	0.06450218	0.13690	0.13430099	0.32185	0.06450218	0.13690	0.13430099	0.32184	-4.66	0.32917	T	.	.	0.140	0.46238	B	.;.;.	.;.;.	0.863629	0.12360	8.899	0.9193198713789773	0.21256	0.04443	0.10043	N	AEFDGBCIJ	0.113214	0.22348	N	-1.02980306332096	0.07989	0.3730694	-1.06886484405219	0.08319	0.4084892	0.999999717791207	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.504199	0.09095	0	0.613276	0.41899	0	.	.	3.78	0.481	0.16020	0.052000	0.14046	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1903:0.5142:0.185:0.1105	2.560	0.04481	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	897.33	34	chr16	31135163	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.645;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.137;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	18	0	1	0
chr16	31135476	31135476	C	T	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon1:c.G23A:p.G8E	.	415	1067	39	1	0	41	0.0188506	.	.	.	703656	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0042	0.00119808	0.0086	0.0008	0.0182	0	0.0018	0.0137	0.0117	0.0024	0.003564	551	154602	rs148529565	0.0040	0.0040	0.0039	0.0042	0.0295	0.0039	0.0039	0.0259	0.0245	0.0019	0.0060	0.0088	2.658e-05	0.0008	0.0295	0.0041	0.0068	0.0019	0.0040	0.0040	0.0040	0.0040	0.0082	0.0037	0.0036	0.0071	0.0066	0.0007	0.0143	0.0082	0.0081	0	0.0005	0.0408	0.0054	0.0095	0.0014	0.0	0.91255	D	0.112	0.37310	T	0.006	0.13644	B	0.004	0.10090	B	0.091122	0.20341	N	0.352786	1	0.08975	N	1.7	0.43825	L	-2.3	0.88611	D	-1.26	0.44657	N	0.204	0.22614	-0.2765	0.75635	T	0.584	0.85056	D	10	0.0061965585	0.00140	T	.	.	.	0.412	0.72328	.	.	0.762845975942	0.76068	0.7818940532073662	0.78140	0.372019112301	0.38704	0.312666118145	0.12310	T	0.267357	0.63938	T	-0.235389	0.15943	T	-0.107728	0.62792	T	0.0438740286469159	0.04397	T	0.418458	0.11053	T	0.16014574	0.35936	0.1923122	0.42738	0.16014574	0.35936	0.1923122	0.42737	-6.218	0.48069	T	.	.	0.103	0.39949	B	.;.;.;.	.;.;.;.	2.279405	0.29141	18.03	0.98302755785505158	0.40058	0.07151	0.13176	N	AEFDGBCI	0.176388	0.30359	N	-0.641614941074266	0.17705	0.913314	-0.79053367496873	0.14727	0.7710162	0.99999860014021	0.74766	0.441713	0.08003	0	0.547309	0.14657	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	4.42	1.31	0.20837	0.536000	0.22838	.	.	-0.316000	0.05924	0.001000	0.13787	0.961000	0.29326	0.099000	0.18236	0.1934:0.5991:0.0:0.2076	3.746	0.08073	59	0.97452	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.032487	0.085859	0.038043	0.021341	0.050000	0.008621	0.021472	0.003788	0.07895	2545.77	34	chr16	31135476	.	C	T	2545.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.107;DP=689;ExcessHet=0;FS=1.15;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=0.07;SOR=0.456	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1384	17	1	1	0
chr16	31224601	31224601	A	G	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon7:c.A1280G:p.Y427C	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	.	7.9e-05	0.000998403	0.0060	0	0.0019	0	0	0.0019	0.0133	0.0109	0.0009573	148	154602	rs373379714	0.0009	0.0009	0.0006	0.0013	0.0094	0.0009	0.0009	0.0088	0.0086	9.297e-05	0.0002	0.0002	5.413e-05	0	0.0060	0.0004	0.0010	0.0094	0.0005	0.0005	0.0003	0.0007	0.0081	0.0004	0.0004	0.0061	0.0054	7.221e-05	0	6.533e-05	0.0003	0.0002	0	0.0136	0.0004	0.0019	0.0081	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.80445	D	0.001956	0.37596	N	0.187062	0.906101	0.36291	D	2.79	0.81396	M	-0.45	0.69896	T	-7.72	0.95696	D	0.637	0.64989	0.055	0.83333	D	0.455	0.78767	T	10	0.020818084	0.00487	T	.	.	.	0.511	0.79033	.	.	0.911012070045	0.91011	0.9826015648907807	0.98252	.	.	0.867136359215	0.92156	D	0.684247	0.90759	D	-0.18539	0.22936	T	-0.0331028	0.68163	D	0.120148853941037	0.14445	T	0.833717	0.50261	T	0.6480137	0.75258	0.5753286	0.75398	0.6480137	0.75259	0.5753286	0.75399	-8.964	0.67465	D	.	.	0.700	0.72976	P	.	.	4.458120	0.69356	25.4	0.99668876165733933	0.78458	0.70498	0.34615	D	AEFDBI	0.347999	0.44228	N	0.420161312207766	0.62532	4.47057	0.315909048899862	0.56475	3.810792	0.00675668737134349	0.11300	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.69	4.55	0.55429	3.155000	0.50398	.	.	0.746000	0.86710	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.7274:0.0:0.0:0.2726	9.536	0.38387	189	0.92630	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007157	0.000000	0.000000	0.014706	0.000000	0.008929	0.012739	0.015152	0.02632	1262.33	38	chr16	31224601	.	A	G	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=735;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=0.696;SOR=0.44	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1276,0,886	18	0	1	0
chr16	31330410	31330410	T	C	exonic	ITGAM	.	nonsynonymous SNV	ITGAM:NM_000632:exon27:c.T3163C:p.W1055R,ITGAM:NM_001145808:exon27:c.T3166C:p.W1056R	.	0	1521	1	0	0	1	0.000328623	.	.	.	1495563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.126189754377	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs771789895	6.161e-06	6.157e-06	1.09e-05	1.376e-06	7.201e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.201e-06	1.657e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999797	0.49177	D	2.84	0.82582	M	0.17	0.60485	T	-13.19	0.99906	D	0.842	0.83781	-0.1848	0.78059	T	0.395	0.74764	T	9	0.8254441	0.81727	D	0.12619	0.80782	D	0.406	0.71869	0.566	0.68768	0.891819750827	0.89075	0.6829164781526808	0.68230	1.34573443082	0.83979	0.623566269875	0.56232	T	0.568644	0.85681	D	0.184315	0.72440	D	0.026979	0.72082	D	0.999256432056427	0.96710	D	0.784922	0.42251	T	0.7677897	0.81915	0.6919991	0.81873	0.7677897	0.81917	0.6919991	0.81874	-7.843	0.60016	D	.	.	0.942	0.86117	P	.;.;.;.	.;.;.;.	4.467912	0.69602	25.4	0.9910062146311428	0.52446	0.92579	0.56044	D	AEFDBI	0.534290	0.55339	D	0.563429699510067	0.70902	5.570484	0.474225455893233	0.66288	4.93247	0.999999366023099	0.74766	0.676563	0.55306	0	0.633656	0.55848	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	1.990000	0.40338	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0:0.0:0.0:1.0	11.590	0.50195	273	0.89298	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	8154.77	33	chr16	31330410	.	T	C	8154.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.035;DP=976;ExcessHet=0;FS=0.466;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	1	1	0
chr16	31330527	31330527	C	G	exonic	ITGAM	.	nonsynonymous SNV	ITGAM:NM_000632:exon28:c.C3198G:p.I1066M,ITGAM:NM_001145808:exon28:c.C3201G:p.I1067M	.	0	1520	2	0	0	2	0.000657462	.	.	.	1484208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0135904408938	.	.	1.696e-05	0	0	0	0	1.527e-05	0	6.297e-05	2.59e-05	4	154602	rs766849693	4.585e-05	4.583e-05	4.085e-05	5.09e-05	0.0021	3.663e-05	3.348e-05	0.0012	0.0009	0.0001	0.0001	0	0	0	0.0021	3.059e-05	0.0001	4.64e-05	7.227e-05	7.224e-05	5.138e-05	9.416e-05	0.0001	3.971e-05	3.127e-05	5.841e-05	4.238e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.008	0.58626	D	0.008	0.67890	D	0.19	0.29379	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.46	0.56281	T	-1.4	0.34596	N	0.177	0.21319	-0.9712	0.36946	T	0.078	0.31012	T	9	0.06873503	0.09763	T	0.01359	0.33109	T	0.042	0.11227	.	.	0.382761230579	0.37889	0.2654989481270746	0.26462	0.397008865378	0.40804	0.35062751174	0.18013	T	0.09853	0.40245	T	-0.341149	0.05308	T	-0.524214	0.19868	T	0.0406657552483551	0.03811	T	0.535446	0.17943	T	0.14750573	0.33718	0.11513074	0.27793	0.14750573	0.33717	0.11513074	0.27792	-4.408	0.30401	T	.	.	0.108	0.31857	B	.;.;.;.	.;.;.;.	1.185246	0.15760	12.08	0.93967403199678845	0.24040	0.00837	0.03359	N	AEFDBI	0.055291	0.10127	N	-1.40485451336374	0.02596	0.1148408	-1.53231078063274	0.02100	0.09608274	0.999999999459547	0.74766	0.676563	0.55306	0	0.633656	0.55848	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	5.03	-10.1	0.00330	-3.083000	0.00675	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.674000	0.33367	0.0921:0.4234:0.3032:0.1813	5.186	0.14510	273	0.89298	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2049.33	33	chr16	31330527	.	C	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=828;ExcessHet=0;FS=6.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.743;SOR=1.218	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G,ITGAX:NM_001286375:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	114.12	65	chr16	31360327	.	C	G	114.12	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-0.72;DP=907;ExcessHet=0.119;FS=150.165;InbreedingCoeff=-0.136;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=-0.327;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:41:99:.:.:110,0,525:.	12	0	2	5
chr16	31362084	31362084	G	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon11:c.G1096A:p.V366I,ITGAX:NM_001286375:exon11:c.G1096A:p.V366I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00652568920414	.	.	5.767e-05	0	8.637e-05	0	0	8.991e-05	0	0	5.82e-05	9	154602	rs759594937	7.798e-05	7.798e-05	8.167e-05	7.425e-05	0.0002	6.599e-05	6.142e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	2.519e-05	0	0	8.543e-05	6.623e-05	2.319e-05	3.943e-05	3.94e-05	5.138e-05	2.691e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.17	0.23095	T	0.113	0.37173	T	0.082	0.24665	B	0.006	0.12133	B	.	.	.	.	0.998099	0.22354	N	1.75	0.45442	L	1.02	0.40749	T	-0.36	0.13035	N	0.18	0.19459	-1.0330	0.19490	T	0.089	0.34298	T	9	0.08536476	0.14403	T	0.006526	0.17186	T	0.059	0.16972	0.545	0.65873	0.253205268125	0.24938	0.2670742580724358	0.26620	0.156508872088	0.17663	0.309989333153	0.11906	T	0.079953	0.36250	T	-0.469555	0.00855	T	-0.610539	0.11941	T	0.0190210968282929	0.00611	T	0.332967	0.07033	T	0.068682745	0.14982	0.07748343	0.17264	0.068682745	0.14982	0.07748343	0.17264	-5.406	0.40977	T	.	.	0.081	0.08899	B	.;.	.;.	1.338562	0.17450	13.17	0.88688566799735902	0.18175	0.25539	0.22729	N	AEFDBI	0.100166	0.20147	N	-0.943633213013184	0.09836	0.4673057	-0.88417808440886	0.12469	0.6415275	0.754779771318898	0.23416	0.706298	0.61202	0	0.709663	0.81188	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.5	2.51	0.29435	0.794000	0.26619	.	.	-0.970000	0.01946	0.001000	0.13787	1.000000	0.68203	0.142000	0.20019	0.0938:0.0:0.9062:0.0	12.601	0.55849	290	0.88477	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2251.33	33	chr16	31362084	.	G	A	2251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=857;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.47;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1154	18	0	1	0
chr16	31373316	31373316	G	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon20:c.G2434C:p.E812Q,ITGAX:NM_001286375:exon20:c.G2434C:p.E812Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2237766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.0279875621715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979054037	6.842e-06	6.84e-06	6.807e-06	6.877e-06	5.798e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.597e-06	1.657e-05	5.798e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.982408	0.39888	D	3.275	0.90144	M	-0.06	0.63568	T	-2.89	0.60665	D	0.58	0.60156	0.011	0.82477	D	0.463	0.79218	T	9	0.95557487	0.94918	D	0.027988	0.50729	D	0.433	0.73879	0.94	0.99182	0.786881174064	0.78491	0.9289807371596189	0.92876	0.762172987685	0.64322	0.44530877471	0.31302	T	0.428614	0.77769	T	0.0927574	0.63499	D	-0.00390689	0.70081	D	0.962516009807587	0.66391	D	0.955504	0.83071	D	0.36162755	0.57960	0.3153356	0.57520	0.36162755	0.57960	0.3153356	0.57519	-8.803	0.66420	D	.	.	0.563	0.67331	A	.;.	.;.	4.121162	0.61598	24.4	0.99831998588907034	0.91370	0.97061	0.72463	D	AEFDGBI	0.681630	0.64492	D	0.674118059111293	0.77939	6.771849	0.569764761159644	0.72783	5.864525	0.999995240823172	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	6.646000	0.74203	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:0.0:1.0:0.0	15.648	0.76828	324	0.86790	Integrin alpha-2;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1052.33	44	chr16	31373316	.	G	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=822;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-1.584;SOR=0.496	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	18	0	1	0
chr16	31416521	31416521	G	A	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon20:c.G2377A:p.V793M,ITGAD:NM_005353:exon20:c.G2374A:p.V792M	.	.	.	.	.	.	.	.	.	.	.	4158459	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.02589159295	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770540502	1.37e-05	1.642e-05	6.812e-06	2.067e-05	5.799e-05	8.95e-06	7.27e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.081e-05	4.975e-05	5.799e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.981991	0.39840	D	3.205	0.89189	M	0.57	0.54347	T	-2.94	0.61435	D	0.622	0.63713	-0.1515	0.78879	T	0.371	0.73061	T	9	0.81472695	0.80722	D	0.025892	0.48835	D	0.366	0.68582	0.642	0.77903	0.837703744324	0.83615	0.6814951283726193	0.68088	0.734002323866	0.62873	0.463925629854	0.33848	T	0.224432	0.58886	T	-0.124633	0.32368	T	-0.235275	0.51259	T	0.957891583442688	0.65128	D	0.948305	0.80045	D	0.25332406	0.48354	0.31531087	0.57518	0.25332406	0.48354	0.31531087	0.57517	-7.838	0.59961	D	.	.	0.340	0.55896	B	.	.	3.703492	0.52832	23.3	0.99758797732851812	0.84851	0.96246	0.68209	D	AEFBI	0.204309	0.33076	N	0.479295670325852	0.65881	4.878755	0.329310983686722	0.57268	3.892021	0.375610211452569	0.19912	0.568482	0.32641	0	0.547309	0.14657	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.83	4.83	0.61880	2.896000	0.48355	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:1.0:0.0	15.447	0.74970	414	0.81871	Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	40	chr16	31416521	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=753;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.694;SOR=1.074	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1330	18	0	1	0
chr16	31462506	31462506	A	G	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon3:c.A959G:p.N320S,ARMC5:NM_024742:exon3:c.A959G:p.N320S,ARMC5:NM_001301820:exon4:c.A1055G:p.N352S,ARMC5:NM_001288767:exon5:c.A1244G:p.N415S	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0353763484007	.	0.000199681	8.357e-06	0	0	0	0	0	0	6.106e-05	1.29e-05	2	154602	rs575976648	2.056e-06	2.736e-06	0	4.131e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	3.826e-05	0	0	0	1.799e-06	0	0	6.564e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.424	0.15406	T	0.27	0.92824	T	0.998	0.73220	D	0.994	0.82059	D	0.000204	0.47681	D	0.184036	1	0.81001	D	1.075	0.27130	L	2.38	0.15843	T	-0.62	0.18248	N	0.501	0.54845	-1.0271	0.21396	T	0.051	0.21806	T	10	0.113865286	0.21406	T	0.035376	0.56304	D	0.060	0.17295	.	.	0.454331543959	0.45056	0.03385223233839354	0.03333	1.34180518305	0.83868	0.7296474576	0.71455	T	0.004131	0.03542	T	-0.35309	0.04536	T	-0.648111	0.09086	T	0.284816048668183	0.24373	T	0.776522	0.40874	T	0.039778307	0.05556	0.036479432	0.03104	0.039778307	0.05556	0.036479432	0.03104	-5.455	0.41445	T	0.0920290755019466	0.05902	0.186	0.41947	B	.;.;.;.;.	.;.;.;.;.	2.474573	0.31903	18.88	0.985738595512758	0.43141	0.48781	0.28284	N	AEFDBI	0.111639	0.22096	N	-0.231174137138256	0.31861	1.790833	-0.114660805075655	0.34798	2.005806	0.476031887663876	0.20746	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.500000	0.45040	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8933:0.0:0.1067:0.0	6.787	0.22864	385	0.83500	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1142.33	43	chr16	31462506	.	A	G	1142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.659;DP=735;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.902;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr16	31476134	31476134	-	T	exonic	TGFB1I1	.	stopgain	TGFB1I1:NM_001042454:exon8:c.838dupT:p.E281*,TGFB1I1:NM_001164719:exon8:c.787dupT:p.E264*,TGFB1I1:NM_015927:exon8:c.787dupT:p.E264*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1440.29	105	chr16	31476134	.	C	CT	1440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.135;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	18	0	1	0
chr16	31490211	31490211	G	T	exonic	SLC5A2	.	nonsynonymous SNV	SLC5A2:NM_003041:exon13:c.G1773T:p.E591D	Renal glucosuria, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	325185	not_specified|Familial_renal_glucosuria	MedGen:CN169374|MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.135	0.074082098114	0.0007	.	0.0012	9.66e-05	0	0	0.0023	0.0018	0.0011	6.064e-05	0.0010931	169	154602	rs149525864	0.0012	0.0012	0.0012	0.0012	0.0015	0.0012	0.0011	0.0014	0.0014	2.987e-05	0.0002	0.0003	0	0.0013	0	0.0015	0.0009	2.319e-05	0.0015	0.0015	0.0015	0.0014	0.0028	0.0013	0.0012	0.0025	0.0023	9.619e-05	0	0.0003	0	0	0.0020	0	0.0028	0.0009	0	0.435	0.09401	T	0.305	0.20037	T	0.001	0.07471	B	0.001	0.04355	B	0.014677	0.28464	N	0.302566	0.998968	0.45775	D	-0.125	0.04555	N	-3.02	0.92258	D	-0.02	0.07299	N	0.245	0.27673	-0.6166	0.64130	T	0.493	0.80762	T	10	0.010189235	0.00228	T	0.074082	0.71952	D	0.135	0.36572	0.208	0.12497	0.711965941606	0.70944	0.38141189348611615	0.38056	0.204082279664	0.22826	0.370484679937	0.20902	T	0.138449	0.47195	T	-0.39461	0.02511	T	-0.336716	0.40717	T	0.0150184032970082	0.00323	T	0.591441	0.21800	T	0.025192397	0.01430	0.026468305	0.00737	0.025192397	0.01429	0.026468305	0.00737	-3.405	0.15123	T	.	.	0.082	0.08560	B	.	.	0.078869	0.04854	1.448	0.89576584828639183	0.18916	0.17236	0.19749	N	AEFDBCI	0.195168	0.32221	N	-0.995062809083757	0.08709	0.4093748	-1.01500296336041	0.09455	0.4704862	6.70406088090842E-4	0.07575	0.732398	0.92422	0	0.643519	0.57511	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.22	-0.491	0.11444	-0.420000	0.07127	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.330000	0.25202	0.3604:0.1467:0.4929:0.0	4.870	0.12987	313	0.87327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07895	4834.77	34	chr16	31490211	.	G	T	4834.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=803;ExcessHet=0;FS=0.617;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.13;ReadPosRankSum=0.011;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	1	1	0
chr16	31915900	31915900	A	G	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.A1651G:p.K551E,ZNF267:NM_001265588:exon5:c.A1555G:p.K519E	.	385	1134	3	0	0	3	0.001321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000909984398893	.	.	4.143e-05	0	0	0	0	7.517e-05	0	0	3.88e-05	6	154602	rs772346336	4.037e-05	4.036e-05	3.54e-05	4.539e-05	0.0002	3.179e-05	2.911e-05	3.89e-05	3.49e-05	0	4.474e-05	0	0	0	0.0002	4.946e-05	1.656e-05	0	5.256e-05	5.253e-05	3.854e-05	6.723e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	1.0	0.00964	T	0.955	0.02582	T	0.018	0.17786	B	0.01	0.14941	B	.	.	.	.	0.998658	0.22008	N	-0.63	0.02141	N	3.18	0.07478	T	1.18	0.01107	N	0.105	0.08925	-0.9167	0.45997	T	0.007	0.02439	T	9	0.015115678	0.00317	T	9.1E-4	0.00866	T	0.014	0.01968	.	.	0.0482279557977	0.04254	0.01625344244876755	0.01581	0.193545837597	0.21686	0.262801319361	0.05228	T	0.002311	0.01710	T	-0.443512	0.01233	T	-0.694555	0.06128	T	0.0189430002930534	0.00604	T	0.00779922	0.00034	T	0.05590124	0.10925	0.05500806	0.09568	0.05590124	0.10925	0.05500806	0.09568	-5.162	0.38553	T	.	.	0.111	0.21653	B	.	.	0.517181	0.08858	5.639	0.58461909037290327	0.05999	0.00006	0.00120	N	AEFDGBHCI	0.022301	0.01098	N	-1.69284502669492	0.00867	0.03753082	-1.73964248462268	0.00973	0.04357903	0.573568218643146	0.21512	0.706548	0.73137	0	0.697927	0.68747	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	0.458	-0.707	0.10679	-1.480000	0.02430	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.6992:0.0:0.3008:0.0	3.883	0.08591	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1539.33	41	chr16	31915900	.	A	G	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=829;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.9;QD=14.39;ReadPosRankSum=-0.231;SOR=0.609	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	18	0	1	0
chr16	32253357	32253357	C	T	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C4T:p.R2C	.	955	560	6	1	0	8	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019805203702	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1279462442	0.0003	0.0012	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	0.0004	0.0004	0	0.0002	0	0.0004	0.0004	4.237e-05	0.0048	0.0053	0.0050	0.0047	0.0092	0.0043	0.0041	0.0059	0.0056	0.0010	0	0.0050	0.0089	0	0.0085	0	0.0068	0.0015	0.0092	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-7.9	0.96191	D	0.096	0.08786	.	.	.	.	.	.	.	0.009218931	0.00208	T	0.019805	0.42265	T	.	.	.	.	.	.	0.0012807888312944445	0.00118	3.07987304828	0.99351	0.500791847706	0.38938	T	.	.	.	-0.585598	0.00178	T	-0.595023	0.13233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.163066	0.27562	17.50	0.98037501909506441	0.37758	0.00399	0.01994	N	AEFI	0.045997	0.07588	N	.	.	.	.	.	.	3.09984349074482E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.834000	0.04498	-11.975000	0.00560	-0.745000	0.03636	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	65.01	3	chr16	32253357	.	C	T	65.01	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.741;DP=104;ExcessHet=0;FS=0;InbreedingCoeff=-0.0955;MLEAC=1;MLEAF=0.031;MQ=26.89;MQRankSum=0.298;QD=4.64;ReadPosRankSum=-0.355;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,121	15	0	1	3
chr16	46689713	46689713	C	T	exonic	ORC6	.	nonsynonymous SNV	ORC6:NM_014321:exon1:c.C8T:p.S3L	Meier-Gorlin syndrome 3, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	1503553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0472523528206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767096909	6.901e-07	2.736e-06	1.371e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.102	0.46513	T	0.185	0.41074	T	0.004	0.12183	B	0.001	0.04355	B	0.564146	0.11306	N	0.807991	1	0.08975	N	2.52	0.73523	M	-0.12	0.64630	T	-0.97	0.25986	N	0.288	0.32921	-0.9491	0.41126	T	0.179	0.52536	T	10	0.10052675	0.18311	T	0.047252	0.62838	D	0.036	0.09122	0.273	0.22369	0.678036545427	0.67530	0.3146030142646159	0.31373	0.0765249257685	0.08586	0.443620026112	0.31071	T	0.037913	0.24652	T	-0.181808	0.23467	T	-0.498931	0.22459	T	0.123152685045755	0.14735	T	0.668933	0.27772	T	0.09400845	0.22094	0.16870716	0.38851	0.09400845	0.22093	0.16870716	0.38850	-3.566	0.17367	T	.	.	0.158	0.34992	B	.;.	.;.	2.359085	0.30252	18.38	0.85956578484072244	0.16220	0.10496	0.15987	N	ALL	0.078037	0.15734	N	-0.724574245447729	0.15332	0.7717735	-0.740431293599564	0.15957	0.8418476	0.999999999999926	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.97	2.82	0.32061	0.386000	0.20429	1.665000	0.27922	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.040000	0.14268	0.0:0.6726:0.1586:0.1688	5.805	0.17698	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	651.33	41	chr16	46689713	.	C	T	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.465;SOR=0.741	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr16	46927025	46927025	C	G	exonic	GPT2	.	nonsynonymous SNV	GPT2:NM_001142466:exon11:c.C1169G:p.T390S,GPT2:NM_133443:exon11:c.C1469G:p.T490S	Mental retardation, autosomal recessive 49, Autosomal recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0171040958156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.025	0.56192	D	0.995	0.67487	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	2.01	0.21291	T	-3.45	0.67589	D	0.24	0.27077	-0.7711	0.56797	T	0.166	0.50372	T	10	0.5040157	0.61712	D	0.017104	0.38659	T	0.220	0.51569	0.669	0.80703	0.760144220984	0.75795	0.6236540431908666	0.62298	0.859992518265	0.68915	0.484110474586	0.36623	T	0.771679	0.93894	D	0.00569012	0.52438	T	-0.229603	0.51811	T	0.992033183574677	0.82423	D	0.89801	0.64352	D	0.7887797	0.83197	0.756275	0.85596	0.7887797	0.83198	0.756275	0.85597	-9.221	0.69108	D	0.3273400051739428	0.42545	0.158	0.45086	B	.;.	.;.	4.527105	0.71028	25.6	0.99636368114917639	0.76387	0.93126	0.57395	D	AEFDBCI	0.730204	0.67767	D	0.696474183854419	0.79401	7.069865	0.64718812097818	0.78402	6.86893	0.999999999992434	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	2.778000	0.47412	7.621000	0.62310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.508	0.90855	632	0.64850	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2040.33	39	chr16	46927025	.	C	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=734;ExcessHet=0;FS=2.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.461;SOR=0.447	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	18	0	1	0
chr16	47503085	47503085	G	A	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon4:c.G400A:p.D134N,PHKB:NM_001363837:exon4:c.G400A:p.D134N,PHKB:NM_001031835:exon5:c.G379A:p.D127N	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	1	1492	26	3	0	32	0.0106101	.	.	.	335076	not_provided|PHKB-related_disorder|Glycogen_storage_disease_IXb	MedGen:C3661900|.|MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.612	0.119092153512	0.0015	0.000599042	0.0019	0.0013	0.0034	0	0	0.0020	0.0023	0.0024	0.0017011	263	154602	rs144486825	0.0016	0.0016	0.0015	0.0017	0.0126	0.0016	0.0015	0.0102	0.0094	0.0012	0.0031	0	0	0.0002	0.0126	0.0016	0.0024	0.0021	0.0018	0.0018	0.0018	0.0018	0.0037	0.0016	0.0016	0.0029	0.0026	0.0013	0	0.0037	0	0	9.423e-05	0.0170	0.0020	0.0057	0.0023	0.068	0.35726	T	0.036	0.53072	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-3.19	0.93170	D	-2.31	0.51319	N	0.556	0.60325	0.892	0.95566	D	0.884	0.96159	D	10	0.026918948	0.00848	T	0.119092	0.79931	D	0.612	0.84826	.	.	0.962697865947	0.96230	0.5562157726102552	0.55548	0.354588915174	0.37230	0.78490960598	0.79669	T	0.392223	0.84110	T	-0.224093	0.17437	T	-0.0977215	0.63573	T	0.0264793189095047	0.01472	T	0.89811	0.67676	D	0.19138451	0.40763	0.18787888	0.42045	0.17169397	0.37817	0.17801599	0.40441	-6.645	0.51395	T	.	.	0.096	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.364450	0.89950	31	0.99886081363215651	0.96126	0.98641	0.85033	D	AEFGBI	0.900939	0.84705	D	0.8341482854824	0.88186	9.485366	0.823857271462112	0.91399	10.86797	0.999999999999348	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.023000	0.89142	9.740000	0.81431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.648	0.95784	166	0.93555	GH15-like domain;.;.;GH15-like domain;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012601	0.010101	0.019022	0.011696	0.000000	0.008621	0.018405	0.000000	0.02632	1195.33	34	chr16	47503085	.	G	A	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=724;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.954;SOR=1.068	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1421	18	0	1	0
chr16	48096861	48096861	A	-	exonic	ABCC12	.	frameshift deletion	ABCC12:NM_033226:exon22:c.3080delT:p.L1027Rfs*7	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0007	0	8.663e-05	0.0086	0	0.0001	0.0011	0.0001	0.000608	94	154602	rs544586060	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0086	0	2.236e-05	0.0008	0.0097	1.872e-05	0	4.496e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0081	0.0002	0.0002	0.0062	0.0055	0	0	0	0.0012	0.0081	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2579.29	35	chr16	48096860	.	CA	C	2579.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.314;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.671;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	18	0	1	0
chr16	48139323	48139323	A	G	exonic	ABCC12	.	nonsynonymous SNV	ABCC12:NM_033226:exon5:c.T671C:p.L224P	.	424	1095	2	1	0	4	0.00182315	.	.	.	3988923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.827	0.130568186946	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0003	0.0001488	23	154602	rs141280121	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0	0	0	0.0003	0.0001	0.0002	0.0003	7.226e-05	7.223e-05	5.138e-05	9.411e-05	0.0004	3.97e-05	3.127e-05	7.282e-05	4.239e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0.0004	0.017	0.51248	D	0.028	0.54934	D	0.995	0.67487	D	0.961	0.70482	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.925	0.84406	M	-3.13	0.92829	D	-4.07	0.74661	D	0.965	0.97535	0.829	0.94767	D	0.842	0.94719	D	10	0.9414295	0.93468	D	0.130568	0.81274	D	0.827	0.94503	.	.	0.929145428492	0.92841	0.9638467379710633	0.96371	0.348062468995	0.36684	0.622985363007	0.56150	T	0.464809	0.80021	T	0.202607	0.74135	D	0.373264	0.91189	D	0.621509492397308	0.37268	D	0.70163	0.31127	T	0.8620248	0.88241	0.7987131	0.88189	0.8620248	0.88242	0.7987131	0.88189	-12.283	0.86202	D	.	.	0.924	0.84517	P	.	.	4.271872	0.65006	24.8	0.99881331171530763	0.95733	0.86715	0.46055	D	AEFBI	0.757375	0.69635	D	0.544273913306999	0.69734	5.399212	0.480481985453455	0.66699	4.986006	0.999758210600714	0.42595	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	3.447000	0.52699	9.139000	0.78903	0.756000	0.94297	0.960000	0.33603	1.000000	0.68203	0.342000	0.25479	0.8477:0.1522:0.0:0.0	11.306	0.48570	515	0.74782	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	529.33	34	chr16	48139323	.	A	G	529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.454;DP=676;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.29;SOR=0.88	GT:AD:DP:GQ:PL	0/1:27,23:50:99:543,0,674	18	0	1	0
chr16	48140854	48140854	C	A	exonic	ABCC12	.	stopgain	ABCC12:NM_033226:exon4:c.G490T:p.G164X	.	425	1061	35	1	0	37	0.0171376	.	.	.	703702	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.00119808	0.0032	0.0004	0.0006	0	0.0009	0.0034	0.0011	0.0087	0.0028784	445	154602	rs141807269	0.0021	0.0021	0.0019	0.0023	0.0104	0.0021	0.0021	0.0083	0.0075	0.0004	0.0006	0.0002	5.038e-05	0.0009	0.0104	0.0019	0.0023	0.0082	0.0014	0.0014	0.0014	0.0014	0.0081	0.0012	0.0012	0.0061	0.0054	0.0003	0	0.0007	0	0	0.0008	0.0102	0.0020	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.004654	0.33526	N	0.344054	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361325	0.04056	T	-0.286104	0.46176	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.081074	0.84794	28.4	0.93863987950316063	0.23871	0.57121	0.30294	D	AEFBI	0.098367	0.19823	N	-0.117883246915675	0.36613	2.118756	-0.491910688850162	0.22376	1.215025	0.990015819891589	0.32009	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.95	-5.7	0.02226	1.102000	0.30662	-0.426000	0.09253	-0.773000	0.03420	0.793000	0.29632	0.000000	0.08366	0.001000	0.02609	0.1014:0.5357:0.0:0.363	9.205	0.36446	518	0.74548	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.016304	0.011696	0.000000	0.008621	0.012195	0.011364	0.02632	986.33	33	chr16	48140854	.	C	A	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=737;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.635;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr16	48193938	48193938	C	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon18:c.G2449A:p.V817I,ABCC11:NM_001370496:exon19:c.G2455A:p.V819I,ABCC11:NM_001370497:exon19:c.G2449A:p.V817I,ABCC11:NM_032583:exon20:c.G2449A:p.V817I,ABCC11:NM_145186:exon20:c.G2449A:p.V817I	.	.	.	.	.	.	.	.	.	.	.	4103172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00254716806027	.	.	1.655e-05	0	0	0	0	1.503e-05	0	6.092e-05	1.29e-05	2	154602	rs746479478	1.231e-05	1.231e-05	1.361e-05	1.1e-05	7.557e-05	7.7e-06	6.35e-06	2.004e-05	1.055e-05	2.987e-05	0	0	7.557e-05	1.873e-05	0	8.994e-06	0	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.617	0.05357	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.08700	B	0.904787	0.07378	N	1.047410	1	0.08975	N	-0.345	0.03330	N	1.13	0.38556	T	0.09	0.05917	N	0.069	0.06454	-0.9899	0.32626	T	0.039	0.16806	T	10	0.05310756	0.05449	T	0.002547	0.05121	T	0.029	0.06676	0.543	0.65589	0.134241683229	0.13084	0.3415848637382305	0.34071	0.074021349871	0.08297	0.302987247705	0.10847	T	0.153646	0.49458	T	-0.422965	0.01638	T	-0.663809	0.08012	T	0.0338121728788225	0.02606	T	0.415758	0.10904	T	0.017221112	0.00255	0.021896325	0.00227	0.017221112	0.00255	0.021896325	0.00227	-3.439	0.15587	T	.	.	0.070	0.05145	B	.;.;.;.	.;.;.;.	-2.155191	0.00071	0.001	0.37868302194675002	0.02521	0.02632	0.07225	N	AEFDBHCI	0.036289	0.04810	N	-2.02206706057285	0.00190	0.00812542	-2.05760261244293	0.00230	0.01015201	0.995578071225342	0.34201	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.24	-7.58	0.01172	-1.955000	0.01614	-5.434000	0.01720	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0926:0.395:0.0:0.5123	9.456	0.37921	530	0.73653	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1285.33	35	chr16	48193938	.	C	T	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.166;SOR=0.68	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1345	18	0	1	0
chr16	48193950	48193950	C	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon18:c.G2437A:p.V813M,ABCC11:NM_001370496:exon19:c.G2443A:p.V815M,ABCC11:NM_001370497:exon19:c.G2437A:p.V813M,ABCC11:NM_032583:exon20:c.G2437A:p.V813M,ABCC11:NM_145186:exon20:c.G2437A:p.V813M	.	.	.	.	.	.	.	.	.	.	.	726651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.0031360421238	0.0002	0.000199681	0.0004	0.0005	0.0035	0.0005	0	4.511e-05	0	0	0.0003558	55	154602	rs140765057	0.0001	0.0001	0.0001	0.0001	0.0021	9.739e-05	9.217e-05	0.0017	0.0016	8.962e-05	0.0021	0	0.0004	0	0.0002	3.778e-05	0.0002	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0012	0	0.0004	9.43e-05	0	1.47e-05	0	0	0.334	0.13971	T	0.373	0.16328	T	0.001	0.07471	B	0.001	0.14941	B	0.140982	0.18291	N	0.590830	1	0.08975	N	-1.3	0.00713	N	0.92	0.44461	T	0.94	0.01529	N	0.09	0.06854	-0.9980	0.30479	T	0.018	0.07423	T	10	0.0065405667	0.00148	T	0.003136	0.06815	T	0.048	0.13305	.	.	0.0762999501168	0.06990	0.3152340306057936	0.31436	0.0912430136936	0.10305	0.302535712719	0.10780	T	0.124811	0.45010	T	-0.615417	0.00117	T	-0.662328	0.08109	T	0.0046877240117631	0.00050	T	0.428457	0.11587	T	0.023472177	0.01090	0.033058286	0.02138	0.023472177	0.01090	0.033058286	0.02138	-2.687	0.07541	T	.	.	0.069	0.05360	B	.;.;.;.	.;.;.;.	-1.106743	0.00632	0.017	0.29809908922685857	0.01599	0.00738	0.03085	N	AEFDBHCI	0.021739	0.01002	N	-1.81815189758781	0.00502	0.02161651	-1.75691737943051	0.00907	0.04058773	0.345374718835351	0.19627	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.24	-3.9	0.03904	-0.477000	0.06663	-1.220000	0.05989	-0.831000	0.02872	0.138000	0.23473	0.000000	0.08366	0.003000	0.05239	0.382:0.1658:0.1311:0.3211	0.528	0.00583	530	0.73653	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	732.33	35	chr16	48193950	.	C	T	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.438;DP=765;ExcessHet=0;FS=3.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.7;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,34:76:99:0|1:48193950_C_T:746,0,1651:48193950	18	0	1	0
chr16	48200454	48200454	G	T	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1904A:p.S635Y,ABCC11:NM_001370496:exon15:c.C1904A:p.S635Y,ABCC11:NM_001370497:exon15:c.C1904A:p.S635Y,ABCC11:NM_032583:exon16:c.C1904A:p.S635Y,ABCC11:NM_145186:exon16:c.C1904A:p.S635Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.214601441581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999949	0.51968	D	5.26	0.99968	H	-5.19	0.98838	D	-5.74	0.87687	D	0.835	0.94550	0.975	0.96777	D	0.988	0.99637	D	10	0.95825386	0.95206	D	0.214601	0.87466	D	0.912	0.97662	.	.	0.98032590983	0.98010	0.9325910892648644	0.93238	0.547561883492	0.51719	0.604858756065	0.53590	T	0.735157	0.92619	D	0.522232	0.94937	D	0.512374	0.94863	D	0.999367535114288	0.97117	D	0.989326	0.96464	D	0.9334256	0.94581	0.94982827	0.98389	0.9334256	0.94581	0.94982827	0.98389	-12.946	0.89139	D	.	.	0.819	0.83968	P	.;.;.;.	.;.;.;.	4.361113	0.67059	25.0	0.99570348501886996	0.72379	0.95561	0.65212	D	AEFI	0.435527	0.49613	N	0.96256590057984	0.94470	12.78383	0.820810925430301	0.91201	10.76864	0.999910101660829	0.45857	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	2.791000	0.47520	4.303000	0.42946	0.662000	0.56354	0.997000	0.40164	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.116	0.86568	530	0.73653	ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1279.33	33	chr16	48200454	.	G	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=701;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.77;ReadPosRankSum=-0.675;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr16	48227918	48227918	G	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon3:c.C283G:p.L95V,ABCC11:NM_001370496:exon4:c.C283G:p.L95V,ABCC11:NM_001370497:exon4:c.C283G:p.L95V,ABCC11:NM_032583:exon5:c.C283G:p.L95V,ABCC11:NM_145186:exon5:c.C283G:p.L95V	.	0	1519	3	0	0	3	0.000986518	.	.	.	2335825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0156851315634	0.0003	0.000199681	0.0004	0	0.0008	0	0	0.0006	0.0011	6.058e-05	0.0003816	59	154602	rs145987153	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0005	5.974e-05	0.0007	0	0	5.616e-05	0.0002	0.0006	0.0005	5.797e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	2.406e-05	0	0.0003	0	0	0	0	0.0006	0.0014	0.0004	0.117	0.28271	T	0.136	0.52727	T	0.061	0.23190	B	0.028	0.21332	B	0.869492	0.07167	N	1.066870	0.999997	0.08975	N	1.265	0.31966	L	-2.57	0.89692	D	-0.8	0.22078	N	0.465	0.50146	-0.6894	0.60936	T	0.425	0.76910	T	10	0.034156203	0.01614	T	0.015685	0.36562	T	0.223	0.52023	.	.	0.560115663565	0.55672	0.17860026413394942	0.17779	0.0946223505276	0.10686	0.309851258993	0.11885	T	0.082283	0.36793	T	-0.335538	0.05702	T	-0.352161	0.38958	T	0.0391466577797847	0.03536	T	0.666133	0.27528	T	0.062473338	0.13051	0.04631003	0.06427	0.062473338	0.13051	0.04631003	0.06427	-3.571	0.17438	T	.	.	0.118	0.25100	B	.;.;.;.;.	.;.;.;.;.	-0.616104	0.01528	0.098	0.95842531538333153	0.27968	0.01872	0.05767	N	AEFBI	0.045869	0.07551	N	-1.20120738605675	0.04983	0.2261172	-1.28356320292263	0.04652	0.2199409	0.125410515663937	0.16977	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	-6.98	0.01454	-0.635000	0.05568	-0.281000	0.10269	-0.127000	0.13314	0.001000	0.13787	0.012000	0.20211	0.659000	0.32940	0.2948:0.295:0.1991:0.2112	0.542	0.00605	509	0.75304	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	969.33	35	chr16	48227918	.	G	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.85;DP=733;ExcessHet=0;FS=2.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.698;SOR=0.43	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	18	0	1	0
chr16	50292755	50292755	G	A	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon5:c.G617A:p.R206Q,ADCY7:NM_001286057:exon5:c.G617A:p.R206Q	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	7.7e-05	0.00159744	0.0012	0	8.642e-05	0.0145	0	0.0002	0.0011	0.0005	0.0009961	154	154602	rs138459146	0.0005	0.0005	0.0005	0.0006	0.0159	0.0005	0.0005	0.0149	0.0145	0	2.236e-05	0.0013	0.0159	9.395e-05	0.0002	4.317e-05	0.0006	0.0005	0.0006	0.0006	0.0006	0.0006	0.0139	0.0005	0.0004	0.0113	0.0104	0	0	0	0.0017	0.0139	0	0	0.0001	0.0005	0.0004	0.323	0.29823	T	0.256	0.30926	T	0.18	0.34891	B	0.063	0.30031	B	0.621238	0.10775	U	0.744698	0.999999	0.08975	N	2.415	0.69758	M	-2.12	0.86283	D	-1.63	0.44657	N	0.468	0.52475	-0.4052	0.71863	T	0.468	0.79492	T	10	0.00909552	0.00206	T	.	.	.	0.396	0.71084	.	.	0.907239973899	0.90631	0.6430952322392697	0.64244	0.63775699092	0.57515	0.261569321156	0.05080	T	0.522083	0.83305	D	-0.276968	0.10992	T	-0.160234	0.58331	T	0.031863398835171	0.02284	T	0.942406	0.78384	D	0.09160769	0.21470	0.063905105	0.12730	0.09160769	0.21469	0.063905105	0.12729	-5.985	0.46154	T	.	.	0.079	0.09433	B	.;.;.;.	.;.;.;.	2.273978	0.29066	18.00	0.99766705592710192	0.85500	0.52208	0.29077	D	AEFBCI	0.101144	0.20321	N	-0.265638117110179	0.30485	1.700201	-0.274841567705484	0.28930	1.616855	0.995458254128807	0.34136	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.14	1.95	0.25130	1.900000	0.39460	1.358000	0.25859	0.676000	0.76740	0.927000	0.32177	0.013000	0.20296	0.208000	0.22126	0.2326:0.0:0.7674:0.0	11.175	0.47821	768	0.49510	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1600.33	36	chr16	50292755	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=873;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.296;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,67:149:99:0|1:50292750_A_G:1614,0,1999:50292750	18	0	1	0
chr16	50304430	50304430	C	T	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon11:c.C1439T:p.A480V,ADCY7:NM_001286057:exon11:c.C1439T:p.A480V	.	428	1060	30	4	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	.	0.0039	0.00399361	0.0056	0.0004	0.0038	0.0001	0.0003	0.0063	0.0086	0.0130	0.005097	788	154602	rs61731915	0.0045	0.0045	0.0041	0.0049	0.0145	0.0044	0.0043	0.0120	0.0111	0.0015	0.0040	0.0191	0	0.0002	0.0145	0.0039	0.0058	0.0117	0.0036	0.0036	0.0034	0.0037	0.0149	0.0033	0.0032	0.0121	0.0111	0.0007	0	0.0033	0.0187	0.0006	0.0004	0.0136	0.0045	0.0052	0.0149	0.035	0.43708	D	0.058	0.46182	T	0.997	0.90584	D	0.862	0.75793	P	0.001013	0.40652	U	0.000000	1	0.81001	D	2.725	0.79712	M	-1.64	0.82533	D	-2.67	0.57110	D	0.665	0.69125	-0.0053	0.82146	T	0.504	0.81310	D	10	0.011714339	0.00255	T	.	.	.	0.693	0.88867	.	.	0.907111758557	0.90618	0.6667425496569043	0.66612	1.30625617506	0.83127	0.73498237133	0.72235	T	0.620045	0.88077	D	-0.053831	0.43863	T	0.159294	0.80762	D	0.0264179003572966	0.01463	T	0.965953	0.87464	D	0.20631067	0.42801	0.19506215	0.43162	0.20631067	0.42801	0.19506215	0.43161	-12.988	0.89314	D	.	.	0.349	0.65846	A	.;.;.	.;.;.	5.279062	0.88641	29.7	0.99941668848422993	0.99797	0.98540	0.83876	D	AEFDBCIJ	0.892021	0.82856	D	0.545402599546706	0.69801	5.409121	0.564697067074673	0.72428	5.807951	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.83	4.83	0.61880	7.877000	0.85647	7.650000	0.63651	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	17.917	0.88874	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.000000	0.024457	0.020468	0.100000	0.000000	0.021472	0.011450	0.02632	3016.33	34	chr16	50304430	.	C	T	3016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=879;ExcessHet=0;FS=1.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.044;SOR=0.831	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1298	18	0	1	0
chr16	50668038	50668038	G	A	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_001144972:exon4:c.C286T:p.P96S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00118327848243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	0.58	0.02598	N	0.113	0.10056	-1.0026	0.29168	T	0.064	0.26562	T	8	0.05747339	0.06607	T	0.001183	0.01509	T	0.042	0.11227	0.261	0.20473	0.225902525712	0.22197	.	.	.	.	.	.	.	.	.	.	-0.349074	0.04786	T	-0.739197	0.03924	T	0.0496708698005754	0.05443	T	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.417	0.15286	T	.	.	0.100	0.17317	B	.	.	0.007636	0.04336	1.103	0.91860758756497141	0.21175	0.03472	0.08630	N	AEFBCI	0.029332	0.02749	N	-1.12027437158086	0.06283	0.2888141	-1.28357022357592	0.04652	0.2199369	0.999983512188597	0.51787	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-4.61	0.03139	-0.917000	0.04134	-0.018000	0.12964	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4344:0.313:0.2526:0.0	4.586	0.11676	764	0.49969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1352.33	36	chr16	50668038	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=703;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.241;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1277:.	18	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	1250.38	33	chr16	50669118	.	A	G	1250.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.51;DP=1657;ExcessHet=1.3;FS=136.809;InbreedingCoeff=-0.1517;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.795;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1227:.	14	0	5	0
chr16	50675802	50675802	G	A	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_001144972:exon3:c.C250T:p.R84C,SNX20:NM_153337:exon3:c.C250T:p.R84C,SNX20:NM_182854:exon3:c.C250T:p.R84C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.132870651717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364424556	6.844e-06	6.84e-06	8.172e-06	5.503e-06	8.995e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.515	0.73286	M	0.43	0.57261	T	-7.81	0.95950	D	0.683	0.70527	-0.3353	0.73979	T	0.332	0.69919	T	10	0.8052862	0.79876	D	0.132871	0.81522	D	0.444	0.74657	0.639	0.77579	0.705806587398	0.70324	0.628651400116222	0.62798	1.197488769	0.80448	0.377230912447	0.21863	T	0.210604	0.57114	T	-0.00195572	0.51384	T	-0.0590578	0.66398	T	0.998775899410248	0.95127	D	0.934007	0.75281	D	0.5683993	0.70972	0.37224916	0.62437	0.5683993	0.70973	0.37224916	0.62437	-4.783	0.76438	T	.	.	0.209	0.43788	B	.;.;.;.	.;.;.;.	4.929838	0.81271	27.5	0.99922704355987124	0.98852	0.90596	0.51903	D	AEFDBHCI	0.750886	0.69187	D	0.523448736035071	0.68478	5.222954	0.442403274747775	0.64231	4.673514	0.999989143851226	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.66	3.55	0.39770	3.106000	0.50013	6.994000	0.57171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.0:0.4922:0.5078	11.429	0.49273	772	0.48957	.;.;Phox homologous domain|Phox homologous domain;Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1288.33	34	chr16	50675802	.	G	A	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=764;ExcessHet=0;FS=3.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.701;SOR=0.443	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	18	0	1	0
chr16	50711232	50711232	G	A	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G1240A:p.E414K,NOD2:NM_001370466:exon4:c.G1240A:p.E414K,NOD2:NM_022162:exon4:c.G1321A:p.E441K	Blau syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	103719	Blau_syndrome|Regional_enteritis|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.17520984221	0.0003	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	6.057e-05	0.0002911	45	154602	rs104895432	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0002	3.826e-05	0	0.0003	0.0003	0.0004	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0	0	0.0002	0.0034	0.0005	0.0005	0	0.774	0.03344	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000360	0.45440	D	0.095984	0.973845	0.39056	D	1.15	0.29295	L	-0.03	0.63077	T	0.09	0.05917	N	0.378	0.41952	-0.6524	0.62609	T	0.282	0.65438	T	10	0.24522126	0.41767	T	0.17521	0.85135	D	0.344	0.66582	.	.	0.864794614297	0.86348	0.6861454139163959	0.68554	0.528228612512	0.50417	0.444496810436	0.31191	T	0.150555	0.49008	T	-0.181748	0.23475	T	-0.116877	0.62057	T	0.107235654475472	0.13134	T	0.906109	0.66926	D	0.099241756	0.23419	0.124394536	0.29983	0.1052875	0.24892	0.12057479	0.29097	-8.046	0.61383	D	0.2664191784713233	0.35907	0.44	0.61705	A	.;.	.;.	4.115115	0.61465	24.3	0.97588441142434768	0.34775	0.57981	0.30520	D	AEFDBI	0.168502	0.29526	N	0.0872021424980342	0.45866	2.83611	-0.023323804820884	0.38663	2.281159	0.999891344304765	0.45129	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.26	4.3	0.50540	3.384000	0.52216	11.482000	0.92895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0888:0.1698:0.7413:0.0	7.482	0.26582	701	0.57775	.;NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2880.33	138	chr16	50711232	.	G	A	2880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1330;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.163;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1183	18	0	1	0
chr16	50712093	50712093	G	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G2101T:p.G701C,NOD2:NM_001370466:exon4:c.G2101T:p.G701C,NOD2:NM_022162:exon4:c.G2182T:p.G728C	Blau syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.145871917976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.000000	0.999946	0.51968	D	3.07	0.87108	M	-0.53	0.70833	T	-2.96	0.61722	D	0.549	0.57518	0.118	0.84496	D	0.547	0.83360	D	10	0.8082664	0.80139	D	0.145872	0.82803	D	0.548	0.81252	0.441	0.49648	0.948057913914	0.94751	0.5068301301310427	0.50605	0.515395677199	0.49451	0.620436489582	0.55791	T	0.279306	0.65198	T	0.307328	0.83543	D	0.203679	0.83330	D	0.988514959812164	0.78836	D	0.858114	0.54842	D	0.3310867	0.55559	0.25685316	0.51392	0.3310867	0.55559	0.25685316	0.51391	-5.918	0.45588	T	0.3690866084605714	0.46479	0.182	0.44784	B	.;.	.;.	4.336001	0.66482	25.0	0.99714562181172195	0.81563	0.93394	0.58100	D	AEFDBHCIJ	0.921293	0.89455	D	0.80578028224949	0.86469	8.89464	0.732714407504283	0.84861	8.411879	0.999999998451313	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	5.817000	0.68907	8.476000	0.77285	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.1676:0.8324:0.0	12.544	0.55538	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1311.33	43	chr16	50712093	.	G	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=798;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=0.223;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1325,0,918	18	0	1	0
chr16	50750108	50750108	C	G	exonic	CYLD	.	nonsynonymous SNV	CYLD:NM_001042355:exon3:c.C410G:p.S137C,CYLD:NM_001042412:exon3:c.C410G:p.S137C,CYLD:NM_001378743:exon3:c.C410G:p.S137C,CYLD:NM_001378744:exon3:c.C410G:p.S137C,CYLD:NM_001378747:exon3:c.C410G:p.S137C,CYLD:NM_001378748:exon3:c.C410G:p.S137C,CYLD:NM_001378749:exon3:c.C410G:p.S137C,CYLD:NM_001378751:exon3:c.C410G:p.S137C,CYLD:NM_001378752:exon3:c.C410G:p.S137C,CYLD:NM_001378753:exon3:c.C410G:p.S137C,CYLD:NM_001378745:exon4:c.C410G:p.S137C,CYLD:NM_001378746:exon4:c.C410G:p.S137C,CYLD:NM_001378750:exon4:c.C410G:p.S137C,CYLD:NM_015247:exon4:c.C410G:p.S137C	Brooke-Spiegler syndrome, Autosomal dominant;Cylindromatosis, familial, Autosomal dominant;Trichoepithelioma, multiple familial, 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.127612746693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175162652	3.42e-06	3.42e-06	0	6.876e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.026	0.62352	D	0.985	0.62325	D	0.77	0.60815	P	0.000004	0.62929	D	0.110455	1	0.81001	D	2.395	0.69210	M	-2.95	0.91903	D	-3.13	0.63901	D	0.304	0.41853	0.774	0.94094	D	0.846	0.94850	D	10	0.6569441	0.69929	D	0.127613	0.80944	D	0.515	0.79279	0.498	0.58835	0.822865565908	0.82119	0.47008372210570243	0.46927	1.06138964259	0.76487	0.611622333527	0.54546	T	0.073574	0.88480	T	0.168631	0.70996	D	0.00445038	0.70623	D	0.871336579322815	0.52123	D	0.950805	0.81197	D	0.073835224	0.16526	0.12462135	0.30035	0.073835224	0.16526	0.12462135	0.30034	-6.219	0.48077	T	0.5313824540883866	0.60220	0.149	0.39865	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.732224	0.76230	26.5	0.99240807436357492	0.56533	0.98787	0.86849	D	AEFGBI	0.833825	0.75197	D	0.825820693291595	0.87690	9.306791	0.842347704757735	0.92561	11.49824	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.310000	0.78255	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.868	0.96822	534	0.73357	.;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain;CAP Gly-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	989.33	86	chr16	50750108	.	C	G	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=727;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.538;SOR=0.918	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr16	51138945	51138945	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G2986A:p.V996M,SALL1:NM_002968:exon2:c.G3277A:p.V1093M	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	341753	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00407793463349	7.7e-05	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs371314603	1.505e-05	1.505e-05	1.225e-05	1.788e-05	2.319e-05	9.85e-06	8.41e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	1.656e-05	2.319e-05	3.288e-05	3.284e-05	3.856e-05	2.692e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.202	0.20230	T	0.16	0.31427	T	0.024	0.19075	B	0.003	0.08700	B	0.000066	0.52346	N	0.170743	0.972697	0.81001	D	0.68	0.16426	N	3.29	0.06681	T	-0.24	0.11366	N	0.125	0.11769	-0.9647	0.38270	T	0.013	0.05033	T	10	0.09496206	0.16924	T	0.004078	0.09744	T	0.060	0.17295	.	.	0.134007934775	0.12933	0.18601910598829854	0.18519	0.205584551074	0.22979	0.490897148848	0.37562	T	0.303743	0.67607	T	-0.370572	0.03565	T	-0.589781	0.13685	T	0.120452515780926	0.14474	T	0.854315	0.54093	D	0.07107485	0.15706	0.07126497	0.15241	0.07107485	0.15706	0.07126497	0.15241	-5.209	0.39054	T	.	.	0.069	0.10449	B	.;.;.	.;.;.	2.265395	0.28947	17.97	0.97680665193603056	0.35311	0.67519	0.33462	D	AEFDBHCIJ	0.276321	0.39108	N	-0.32320981386204	0.28268	1.557816	-0.113359135915117	0.34850	2.009407	0.595342394223753	0.21681	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.42	4.46	0.53567	1.227000	0.32179	0.105000	0.14702	0.587000	0.30956	0.993000	0.37899	0.002000	0.18203	0.998000	0.85391	0.0:0.8513:0.0:0.1487	10.634	0.44743	891	0.26808	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2120.33	34	chr16	51138945	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=1345;ExcessHet=0;FS=3.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.579;SOR=0.456	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	18	0	1	0
chr16	51142092	51142092	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_002968:exon2:c.G130A:p.V44I	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	226089	not_provided|Townes-Brocks_syndrome_1	MedGen:C3661900|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.192	0.0173255894176	7.7e-05	.	2.499e-05	0	0	0.0001	0	3.035e-05	0	0	1.94e-05	3	154602	rs373744120	1.574e-05	1.642e-05	1.634e-05	1.513e-05	8.944e-05	1.048e-05	8.75e-06	2.985e-05	1.804e-05	0	8.944e-05	0	0	1.88e-05	0	1.529e-05	0	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.555e-05	2.19e-06	8.2e-07	.	.	0	0	6.555e-05	0	0	0	0	1.47e-05	0	0	0.468	0.08534	T	0.516	0.10607	T	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	1.28	0.35960	T	-0.38	0.13418	N	0.243	0.27435	-0.9300	0.44139	T	0.148	0.47380	T	10	0.40189818	0.55626	T	0.017326	0.38985	T	0.192	0.47115	.	.	0.322284741503	0.31843	0.06688135617588067	0.06626	0.699425841073	0.61035	0.762367069721	0.76282	T	0.213686	0.57507	T	-0.213755	0.18853	T	-0.347849	0.39450	T	0.51110285820997	0.33038	D	0.723028	0.33655	T	0.13279718	0.30911	0.118906334	0.28702	0.13279718	0.30910	0.118906334	0.28701	-5.758	0.44207	T	0.3026699140180324	0.40011	0.064	0.01738	B	.	.	3.196799	0.43459	21.7	0.99816269108632283	0.89973	0.98823	0.87323	D	AEFBI	0.724296	0.67364	D	0.552022165281105	0.70205	5.467481	0.595404584917046	0.74609	6.166379	0.999999999999926	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	5.059000	0.64135	2.693000	0.34103	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.998000	0.85391	0.0:1.0:0.0:0.0	19.326	0.94250	902	0.24074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	614.33	42	chr16	51142092	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.85;SOR=0.56	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1385	18	0	1	0
chr16	52439601	52439603	TGC	-	exonic	TOX3	.	nonframeshift deletion	TOX3:NM_001080430:exon7:c.1353_1355del:p.Q455del,TOX3:NM_001146188:exon8:c.1338_1340del:p.Q450del	.	412	1088	2	0	20	22	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239	0.00539137	0.0048	0.0252	0.0093	0.0027	0.0008	0.0026	0.0019	0.0022	0.0001537	4	26028	rs546327959	0.0010	0.0041	0.0011	0.0010	0.0148	0.0010	0.0010	0.0138	0.0133	0.0148	0.0014	0.0002	0.0004	3.78e-05	0.0009	0.0007	0.0023	0.0002	0.0045	0.0045	0.0043	0.0046	0.0149	0.0042	0.0041	0.0140	0.0136	0.0149	0	0.0023	0	0.0002	0	0	0.0003	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	736.29	34	chr16	52439600	.	TTGC	T	736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.729;DP=732;ExcessHet=0;FS=2.824;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-1.197;SOR=0.348	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	53231492	53231492	A	C	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon8:c.A938C:p.K313T,CHD9:NM_001352157:exon8:c.A938C:p.K313T,CHD9:NM_001352158:exon8:c.A839C:p.K280T,CHD9:NM_001382354:exon8:c.A839C:p.K280T,CHD9:NM_001382355:exon8:c.A839C:p.K280T,CHD9:NM_001308319:exon9:c.A2360C:p.K787T,CHD9:NM_001352127:exon9:c.A2360C:p.K787T,CHD9:NM_001382353:exon9:c.A2360C:p.K787T,CHD9:NM_025134:exon9:c.A2360C:p.K787T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0262262325266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28271	T	0.392	0.17964	T	0.995	0.67487	D	0.946	0.68276	D	0.000029	0.55875	D	0.000000	0.999996	0.58761	D	0.59	0.15444	N	-0.57	0.71307	T	-2.21	0.49684	N	0.331	0.42541	-0.5508	0.66756	T	0.331	0.69893	T	10	0.33516854	0.50679	T	0.026226	0.49152	D	0.283	0.60100	0.474	0.55020	0.571921507275	0.56858	0.6474343612593478	0.64678	1.43684972871	0.85899	0.741167664528	0.73145	T	0.237158	0.69019	T	0.0451226	0.57712	T	-0.172961	0.57172	T	0.903328537940979	0.55650	D	0.90401	0.67067	D	0.17044064	0.37619	0.13040207	0.31333	0.17044064	0.37618	0.13040207	0.31332	-4.758	0.34098	T	.	.	0.25	0.48469	B	.;.;.;.;.	.;.;.;.;.	4.144355	0.62115	24.4	0.99345278151944727	0.60331	0.98942	0.88948	D	AEFBI	0.652267	0.62573	D	0.132087736485955	0.47965	3.014938	0.264424238124749	0.53473	3.516159	0.999976106275562	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	5.090000	0.64332	11.131000	0.86801	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.975	0.70917	179	0.93046	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.;.;Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	33	chr16	53231492	.	A	C	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.583;DP=714;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.003;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr16	53287980	53287980	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon26:c.A3791G:p.K1264R,CHD9:NM_001352157:exon26:c.A3791G:p.K1264R,CHD9:NM_001352158:exon26:c.A3692G:p.K1231R,CHD9:NM_001382354:exon26:c.A3692G:p.K1231R,CHD9:NM_001382355:exon26:c.A3692G:p.K1231R,CHD9:NM_001308319:exon27:c.A5213G:p.K1738R,CHD9:NM_001352127:exon27:c.A5213G:p.K1738R,CHD9:NM_001382353:exon27:c.A5213G:p.K1738R,CHD9:NM_025134:exon27:c.A5213G:p.K1738R	.	437	1075	10	0	0	10	0.00462963	.	.	.	3393251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.455	0.0467989313257	0.0057	0.00199681	0.0027	0.0010	0.0011	0	0.0005	0.0044	0.0033	0.0004	0.0029948	463	154602	rs61754093	0.0053	0.0055	0.0054	0.0052	0.0064	0.0052	0.0052	0.0063	0.0062	0.0010	0.0017	0.0048	2.521e-05	0.0006	0.0050	0.0064	0.0054	0.0005	0.0031	0.0031	0.0035	0.0026	0.0054	0.0028	0.0027	0.0049	0.0047	0.0009	0	0.0014	0.0075	0	0.0006	0	0.0054	0.0014	0.0008	0.013	0.53900	D	0.066	0.60337	T	0.012	0.18235	B	0.007	0.17743	B	0.000550	0.43413	N	0.099352	0.999934	0.51612	D	2.045	0.56016	M	-2.53	0.89430	D	-2.11	0.48020	N	0.4	0.50598	0.172	0.85430	D	0.596	0.85587	D	10	0.01096943	0.00242	T	0.046799	0.62625	D	0.455	0.75415	.	.	0.803993924541	0.80216	0.30745811959884534	0.30658	0.518460528272	0.49701	0.612384557724	0.54653	T	0.098633	0.40916	T	-0.291238	0.09512	T	-0.185147	0.56044	T	0.0384918282354041	0.03420	T	0.916108	0.72323	D	0.10613941	0.25096	0.1230636	0.29680	0.10613941	0.25096	0.1230636	0.29679	-8.649	0.65877	D	.	.	0.144	0.44188	B	.;.;.;.;.;.	.;.;.;.;.;.	3.416413	0.47413	22.5	0.99828816160221878	0.91112	0.99500	0.96782	D	AEFBI	0.698219	0.65596	D	0.170643659475079	0.49794	3.175823	0.280205423275488	0.54384	3.603623	0.998409254875958	0.36906	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	4.64	0.57399	6.887000	0.75425	6.929000	0.56953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9297:0.0:0.0703:0.0	11.428	0.49266	201	0.92177	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	2203.33	34	chr16	53287980	.	A	G	2203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.145;DP=786;ExcessHet=0;FS=5.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.325;SOR=0.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	18	0	1	0
chr16	53304347	53304347	C	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon30:c.C4919G:p.P1640R,CHD9:NM_001352157:exon30:c.C4919G:p.P1640R,CHD9:NM_001352158:exon30:c.C4820G:p.P1607R,CHD9:NM_001382354:exon30:c.C4820G:p.P1607R,CHD9:NM_001382355:exon30:c.C4820G:p.P1607R,CHD9:NM_001308319:exon31:c.C6341G:p.P2114R,CHD9:NM_001352127:exon31:c.C6341G:p.P2114R,CHD9:NM_001382353:exon31:c.C6341G:p.P2114R,CHD9:NM_025134:exon31:c.C6341G:p.P2114R	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0292612842044	.	0.000599042	0.0004	0	9.139e-05	0.0001	0	1.557e-05	0.0047	0.0029	0.0003558	55	154602	rs560691291	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0034	0.0032	0.0001	0.0001	0	0	0	0.0009	2.069e-05	0.0003	0.0037	0.0001	0.0001	5.141e-05	0.0002	0.0031	8.165e-05	6.721e-05	0.0019	0.0016	2.405e-05	0	0	0	0.0002	0	0	2.941e-05	0	0.0031	0.0	0.91255	D	0.144	0.33109	T	1.0	0.90584	D	0.997	0.92359	D	0.000016	0.62929	D	0.000000	1	0.81001	D	1.04	0.26193	L	-0.46	0.70014	T	-2.76	0.58569	D	0.622	0.72209	-0.2721	0.75755	T	0.434	0.77504	T	10	0.013212591	0.00281	T	0.029261	0.51800	D	0.329	0.65126	0.21	0.12781	0.745722214602	0.74343	0.3563549178966794	0.35549	1.42918550953	0.85773	0.729858398438	0.71486	T	0.072485	0.34464	T	-0.00325727	0.51206	T	0.219494	0.84150	D	0.0999665289847178	0.12353	T	0.918108	0.71494	D	0.26498795	0.49567	0.41509137	0.65633	0.26498795	0.49566	0.41509137	0.65633	-4.333	0.28637	T	.	.	0.438	0.68073	A	.;.;.;.;.	.;.;.;.;.	3.828461	0.55324	23.6	0.99830057426603924	0.91198	0.99367	0.95101	D	AEFGBI	0.844018	0.76101	D	0.803749309592322	0.86338	8.853967	0.839808235492084	0.92405	11.40847	0.999999999998844	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	7.328000	0.78426	6.017000	0.52736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.860	0.99763	204	0.92044	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1335.33	33	chr16	53304347	.	C	G	1335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.497;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-2.035;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr16	53464245	53464245	C	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon12:c.C1580T:p.A527V,RBL2:NM_001323609:exon12:c.C1580T:p.A527V,RBL2:NM_001323610:exon12:c.C1580T:p.A527V,RBL2:NM_001323611:exon12:c.C1358T:p.A453V,RBL2:NM_005611:exon12:c.C1580T:p.A527V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0113194114885	0.0002	.	0.0002	9.694e-05	0	0.0001	0.0005	0.0002	0.0011	0.0001	0.0001552	24	154602	rs138843013	0.0001	0.0001	9.749e-05	0.0001	0.0005	0.0001	9.629e-05	0.0001	7.697e-05	6.29e-05	0.0002	0	2.592e-05	0.0005	0.0005	9.578e-05	0.0003	8.676e-05	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.578e-05	6.283e-05	0.0001	8.876e-05	0	0	6.541e-05	0	0	0.0003	0	0.0002	0.0005	0	0.749	0.03598	T	1.0	0.01155	T	0.01	0.15535	B	0.005	0.11217	B	0.000001	0.84330	D	0.054564	0.952724	0.37797	D	-0.915	0.01320	N	-2.21	0.86963	D	2.63	0.00252	N	0.202	0.22357	-0.6514	0.62653	T	0.259	0.62988	T	10	0.096399575	0.17289	T	0.011319	0.28825	T	0.341	0.66297	.	.	0.307950594193	0.30395	0.09935254655208689	0.09866	0.221205106065	0.24664	0.466968357563	0.34265	T	0.137796	0.47093	T	-0.272319	0.11500	T	-0.322967	0.42248	T	0.0470634359362688	0.04976	T	0.812119	0.46368	T	0.07579741	0.17101	0.08541443	0.19720	0.07579741	0.17101	0.08541443	0.19720	-2.15	0.03805	T	.	.	0.085	0.12750	B	.;.	.;.	3.110726	0.41958	21.4	0.58318911876620361	0.05966	0.78779	0.38920	D	AEFDBI	0.334444	0.43321	N	-0.273988932208186	0.30156	1.678873	0.0211450143620675	0.40697	2.433042	0.999944975134049	0.47345	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	5.974000	0.70160	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.8031:0.0:0.1969	7.483	0.26584	433	0.80627	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	332.33	25	chr16	53464245	.	C	T	332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.081;DP=573;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.01;SOR=1.053	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,794	18	0	1	0
chr16	53638394	53638396	AGG	-	exonic	RPGRIP1L	.	nonframeshift deletion	RPGRIP1L:NM_001308334:exon20:c.2974_2976del:p.P992del,RPGRIP1L:NM_015272:exon20:c.2974_2976del:p.P992del	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	979771	Joubert_syndrome|Meckel_syndrome,_type_5|Joubert_syndrome_7|COACH_syndrome_3|Meckel-Gruber_syndrome|not_provided|RPGRIP1L-related_disorder	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:C3661900|MedGen:CN239416	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.507e-05	0	0.0012	0.0001294	20	154602	rs752076060	7.262e-05	8.557e-05	3.521e-05	0.0001	0.0007	6.094e-05	5.691e-05	0.0006	0.0005	0	0	3.874e-05	0	0	0	3.355e-05	5.099e-05	0.0007	3.949e-05	3.94e-05	1.286e-05	6.738e-05	0.0006	1.718e-05	1.131e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.418e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2279.29	35	chr16	53638393	.	CAGG	C	2279.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=728;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=0.144;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr16	53645729	53645729	G	C	exonic	RPGRIP1L	.	nonsynonymous SNV	RPGRIP1L:NM_001127897:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_001308334:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_001330538:exon17:c.C2579G:p.S860C,RPGRIP1L:NM_015272:exon17:c.C2579G:p.S860C	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1412123	RPGRIP1L-related_disorder|Joubert_syndrome_7|COACH_syndrome_3|Meckel_syndrome,_type_5|Joubert_syndrome|Meckel-Gruber_syndrome	MedGen:CN239416|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0595960311968	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs768030202	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.45756	T	0.077	0.52727	T	0.061	0.25085	B	0.022	0.31370	B	0.003377	0.35041	N	0.283482	0.999492	0.47278	D	1.5	0.37844	L	-2.43	0.88689	D	-1.55	0.37566	N	0.482	0.51672	0.031	0.82872	D	0.607	0.86076	D	10	0.35198504	0.52037	T	0.059596	0.67717	D	0.453	0.75279	0.57	0.69299	0.834258850195	0.83268	0.4948998973865138	0.49410	0.0930234555543	0.10505	0.543964087963	0.45005	T	0.093	0.39161	T	0.0520254	0.58603	T	-0.0993997	0.63443	T	0.245709016919136	0.22680	T	0.693131	0.31676	T	0.17191124	0.37851	0.12059234	0.29102	0.17191124	0.37851	0.12059234	0.29102	-6.433	0.49767	T	0.2574757489283589	0.34795	0.076	0.06990	B	.;.;.;.;.;.	.;.;.;.;.;.	3.967866	0.58246	24.0	0.91586530426582957	0.20868	0.91818	0.54329	D	AEFGBI	0.463885	0.51262	N	0.00921796809693978	0.42273	2.543993	0.188464336509215	0.49214	3.12735	0.998921805120258	0.37985	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.44	5.44	0.79348	2.898000	0.48370	6.695000	0.56353	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.850	0.92193	327	0.86637	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3033.33	206	chr16	53645729	.	G	C	3033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.749;DP=823;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.857;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr16	55528447	55528447	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon3:c.G382A:p.V128I	.	433	1037	48	4	0	56	0.0262911	.	.	.	703739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0078	0.00559105	0.0077	0.0017	0.0052	0	0.0012	0.0093	0.0100	0.0128	0.0074773	1156	154602	rs61739979	0.0068	0.0068	0.0065	0.0071	0.0373	0.0067	0.0067	0.0332	0.0316	0.0018	0.0060	0.0275	5.041e-05	0.0010	0.0373	0.0064	0.0087	0.0122	0.0054	0.0054	0.0056	0.0053	0.0133	0.0051	0.0050	0.0106	0.0097	0.0013	0	0.0060	0.0265	0.0004	0.0014	0.0272	0.0069	0.0128	0.0133	0.144	0.25255	T	0.208	0.26883	T	0.837	0.46346	P	0.677	0.53365	P	0.000007	0.62929	D	0.106957	1	0.81001	D	1.915	0.51223	L	-3.06	0.92457	D	-0.74	0.20791	N	0.209	0.23253	0.373	0.88694	D	0.712	0.90112	D	10	0.009516329	0.00215	T	.	.	.	0.468	0.76289	.	.	0.883007314517	0.88186	0.4636391809396324	0.46282	0.642191404682	0.57793	0.374768316746	0.21513	T	0.021343	0.16634	T	-0.275501	0.11150	T	-0.158127	0.58521	T	0.0584089146062056	0.06916	T	0.843516	0.52087	T	0.21427143	0.43828	0.2297524	0.48057	0.2164344	0.44102	0.2297524	0.48056	-6.495	0.50248	T	.	.	0.082	0.08851	B	.	.	2.957763	0.39377	20.9	0.99756614939052335	0.84694	0.97969	0.78517	D	AEFBI	0.586403	0.58446	D	0.408504751708759	0.61889	4.39626	0.431893225924825	0.63564	4.592506	0.999999999454702	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.8	5.8	0.92081	5.616000	0.67389	3.029000	0.36034	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.929000	0.46594	0.0:0.0:1.0:0.0	20.055	0.97648	802	0.44336	Phospholipid/glycerol acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.037764	0.030303	0.040761	0.058480	0.000000	0.034483	0.021341	0.026515	0.02632	2056.33	40	chr16	55528447	.	G	A	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=1191;ExcessHet=0;FS=2.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.179;SOR=0.507	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.02632	2261.33	334	chr16	55810997	.	T	C	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.428;DP=1019;ExcessHet=0;FS=0.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=-1.543;SOR=0.646	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E,CES5A:NM_001190158:exon12:c.C1419A:p.D473E	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.050505	0.031250	0.067251	0.000000	0.060345	0.012195	0.003788	0.05263	3040.83	115	chr16	55849715	.	G	T	3040.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=894;ExcessHet=0.119;FS=5.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.543;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	17	0	2	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P,CES5A:NM_145024:exon10:c.G1262C:p.R421P,CES5A:NM_001190158:exon11:c.G1349C:p.R450P	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033300	0.050505	0.031250	0.067251	0.000000	0.051724	0.009202	0.003817	0.05263	2525.83	96	chr16	55852892	.	C	G	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.113;DP=812;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.08;SOR=0.677	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	17	0	2	0
chr16	56362911	56362913	AGG	-	exonic	AMFR	.	stopgain	AMFR:NM_001144:exon14:c.1928_1930del:p.S643del,AMFR:NM_001323511:exon14:c.1643_1645del:p.S548del,AMFR:NM_001323512:exon15:c.2024_2026del:p.S675del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1278.29	33	chr16	56362910	.	TAGG	T	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=711;ExcessHet=0;FS=6.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.08;SOR=1.019	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1202	18	0	1	0
chr16	56502427	56502427	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon9:c.A970G:p.M324V,BBS2:NM_031885:exon9:c.A970G:p.M324V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.100430586475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.436	0.14326	T	.	.	.	.	.	.	0.000705	0.42254	N	0.312538	0.908935	0.36360	D	.	.	.	-2.74	0.90735	D	-1.32	0.34397	N	0.202	0.22357	-0.4722	0.69648	T	0.548	0.83432	D	10	0.10126558	0.18490	T	0.100431	0.77270	D	0.230	0.53062	0.252	0.19067	0.786444523351	0.78446	0.3039860424506459	0.30311	0.25415537248	0.27982	0.378468573093	0.22039	T	0.378393	0.74138	T	-0.0494375	0.44532	T	-0.30879	0.43790	T	0.0572994585002107	0.06737	T	0.658834	0.26791	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.07036	B	.;.	.;.	0.756861	0.11265	7.893	0.66960749619553817	0.08212	0.84181	0.43264	D	AEFBI	0.198141	0.32502	N	-0.410621216128572	0.25095	1.359824	-0.322472761131982	0.27373	1.518519	0.0580663385786912	0.15114	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.92	0.808	0.17861	0.456000	0.21572	0.912000	0.22635	0.665000	0.62972	0.949000	0.33028	0.991000	0.31484	0.630000	0.32157	0.1156:0.1932:0.2401:0.4511	1.498	0.02322	431	0.80762	Ciliary BBSome complex subunit 2, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2388.33	212	chr16	56502427	.	T	C	2388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.461;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.099;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	18	0	1	0
chr16	56823768	56823768	C	T	exonic	NUP93	.	nonsynonymous SNV	NUP93:NM_001242795:exon6:c.C347T:p.T116M,NUP93:NM_001242796:exon6:c.C347T:p.T116M,NUP93:NM_014669:exon8:c.C716T:p.T239M	Nephrotic syndrome, type 12, Autosomal recessive	422	1098	2	0	0	2	0.000909918	.	.	.	726691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0063	0.00399361	0.0015	0.0161	0.0003	0.0002	0	0.0001	0.0011	0.0002	0.0014424	223	154602	rs35563991	0.0006	0.0006	0.0006	0.0005	0.0172	0.0005	0.0005	0.0160	0.0156	0.0172	0.0010	3.826e-05	7.557e-05	1.872e-05	0.0043	8.453e-05	0.0016	9.275e-05	0.0047	0.0047	0.0048	0.0046	0.0160	0.0044	0.0043	0.0150	0.0146	0.0160	0	0.0025	0.0003	0.0002	0	0	0.0001	0.0024	0	0.084	0.41637	T	0.107	0.52727	T	0.126	0.26920	B	0.004	0.10090	B	0.000806	0.41658	D	0.270733	1	0.08975	N	0.805	0.20218	L	0.9	0.45636	T	-0.95	0.27259	N	0.142	0.17553	-1.0694	0.09545	T	0.044	0.18783	T	10	0.008595228	0.00195	T	.	.	.	0.082	0.23913	.	.	0.420322003156	0.41653	0.1991894616993517	0.19835	0.418609216857	0.42446	0.29110378027	0.09084	T	0.034296	0.23266	T	-0.475742	0.00784	T	-0.442521	0.28526	T	0.018494827540003	0.00565	T	0.976402	0.92442	D	0.10169298	0.24022	0.07929216	0.17837	0.14078327	0.32467	0.07224693	0.15564	-5.824	0.44783	T	0.5384388759557863	0.60840	0.080	0.14155	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.080067	0.14631	11.19	0.96556911042911675	0.30243	0.13354	0.17808	N	AEFDBI	0.086427	0.17524	N	-0.743266611019479	0.14818	0.7413381	-0.739892662115819	0.15971	0.842624	0.999999836994759	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.62	3.61	0.40494	1.595000	0.36318	1.326000	0.25636	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.009000	0.08673	0.0:0.553:0.447:0.0	16.625	0.84821	494	0.76445	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3522.33	33	chr16	56823768	.	C	T	3522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=892;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.018;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	18	0	1	0
chr16	56831918	56831918	C	T	exonic	NUP93	.	nonsynonymous SNV	NUP93:NM_001242795:exon9:c.C793T:p.R265W,NUP93:NM_001242796:exon9:c.C793T:p.R265W,NUP93:NM_014669:exon11:c.C1162T:p.R388W	Nephrotic syndrome, type 12, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	YES	226849	Nephrotic_syndrome,_type_12|Nephrotic_syndrome|not_provided|NUP93-related_disorder	MONDO:MONDO:0014817,MedGen:C4225166,OMIM:616892,Orphanet:656|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	0.0330278799411	0.0008	0.000998403	0.0008	9.61e-05	0.0003	0	0.0012	0.0010	0.0044	0.0013	0.0007309	113	154602	rs145146218	0.0006	0.0006	0.0005	0.0006	0.0009	0.0005	0.0005	0.0008	0.0007	8.961e-05	0.0004	0.0001	0	0.0004	0.0007	0.0006	0.0005	0.0009	0.0007	0.0007	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0009	0	0	0.0005	0	0	0.0010	0	0.0012	0	0.0015	0.001	0.91255	D	0.002	0.92824	D	0.999	0.77913	D	0.94	0.67560	D	0.000009	0.62929	D	0.112431	1	0.81001	D	2.67	0.78151	M	0.88	0.46028	T	-6.01	0.91395	D	0.969	0.99260	-0.7286	0.59034	T	0.219	0.58137	T	10	0.09350121	0.16552	T	0.033028	0.54691	D	0.399	0.71321	.	.	0.757842185581	0.75564	0.735899073520606	0.73534	1.09122363088	0.77441	0.886928796768	0.94873	D	0.350251	0.71799	T	-0.0787073	0.39923	T	0.108618	0.77481	D	0.172124281525612	0.18723	T	0.991768	0.97410	D	0.5951432	0.72429	0.5236527	0.72479	0.53490263	0.69110	0.5921308	0.76330	-13.559	0.93721	D	0.916384167101772	0.96264	0.908	0.83331	P	.;.;.;.;.	.;.;.;.;.	5.079520	0.84770	28.4	0.99924875324092854	0.98980	0.92058	0.54851	D	AEFDBI	0.704568	0.66024	D	0.518665237521509	0.68193	5.183749	0.4707588207754	0.66061	4.903238	0.958328087768372	0.28356	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.69	0.41483	2.095000	0.41354	2.308000	0.32059	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.4975:0.5025:0.0:0.0	11.622	0.50380	519	0.74455	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	37	chr16	56831918	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=744;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.613;SOR=0.5	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1270,0,1246	18	0	1	0
chr16	56904446	56904446	G	A	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon25:c.G2935A:p.A979T,SLC12A3:NM_001126107:exon25:c.G2932A:p.A978T,SLC12A3:NM_001126108:exon25:c.G2908A:p.A970T	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.173149933027	.	.	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs534138382	6.842e-06	8.209e-06	6.808e-06	6.877e-06	0.0001	3.46e-06	2.52e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	2.699e-06	3.313e-05	0	6.564e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.053	0.39334	T	0.021	0.58089	D	0.992	0.65571	D	0.875	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	-2.87	0.91589	D	-2.69	0.57435	D	0.932	0.94314	0.142	0.84913	D	0.508	0.81498	D	9	0.9610112	0.95511	D	0.17315	0.84992	D	0.787	0.92948	0.766	0.89373	0.966023195456	0.96565	0.7598689498784748	0.75934	0.379985072841	0.39377	0.489692240953	0.37396	T	0.678552	0.90536	D	0.134368	0.67785	D	0.180935	0.82048	D	0.93194192647934	0.59765	D	0.90351	0.66162	D	0.41762984	0.61934	0.40188313	0.64686	0.41762984	0.61934	0.40188313	0.64686	-7.03	0.54631	T	0.3094110675121733	0.40723	0.291	0.52276	B	.;.;.;.	.;.;.;.	4.989961	0.82714	27.9	0.99829303342830655	0.91112	0.99707	0.98841	D	AEFDBI	0.902966	0.85148	D	0.59363591659676	0.72776	5.859307	0.457131799087896	0.65176	4.790871	0.999999999857941	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	9.523000	0.97087	11.774000	0.95935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	17.445	0.87468	840	0.37365	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1727.33	38	chr16	56904446	.	G	A	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=1059;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.417;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	18	0	1	0
chr16	56939293	56939293	C	T	exonic	HERPUD1	.	nonsynonymous SNV	HERPUD1:NM_001010989:exon5:c.C485T:p.T162I,HERPUD1:NM_001272103:exon5:c.C488T:p.T163I,HERPUD1:NM_014685:exon5:c.C488T:p.T163I	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0204419339626	7.7e-05	.	0.0001	0	8.639e-05	0	0	0.0002	0.0011	6.06e-05	0.0001164	18	154602	rs200238021	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0020	0.0001	0.0002	0	0	0	0.0036	0.0001	0.0003	5.797e-05	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0001	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0	0	0.015	0.52492	D	0.132	0.52389	T	0.514	0.52277	P	0.201	0.47260	B	0.001202	0.39820	N	0.313649	0.999966	0.81001	D	2.255	0.64187	M	1.91	0.33189	T	-2.49	0.56630	N	0.522	0.55193	-1.1515	0.00981	T	0.079	0.31405	T	10	0.2268875	0.39554	T	0.020442	0.43035	T	0.140	0.37593	.	.	0.318133320967	0.31420	0.6159126423962834	0.61523	0.68014917732	0.59968	0.625943183899	0.56569	T	0.296264	0.66890	T	-0.259289	0.12982	T	-0.318078	0.42786	T	0.0994813813626541	0.12300	T	0.90351	0.66162	D	0.090997264	0.21309	0.07861665	0.17625	0.090997264	0.21309	0.07861665	0.17625	-8.916	0.67916	D	.	.	0.173	0.54768	B	.;.;.;.;.	.;.;.;.;.	4.211841	0.63633	24.6	0.9979899038640101	0.88372	0.96345	0.68685	D	AEFDBHCI	0.802802	0.72812	D	0.307529123998473	0.56534	3.818294	0.42373738451639	0.63049	4.530985	1.0	0.98316	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	5.627000	0.67460	7.587000	0.61135	0.549000	0.26987	0.972000	0.34453	0.930000	0.28522	0.986000	0.61781	0.0:1.0:0.0:0.0	19.421	0.94712	830	0.39242	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003024	0.005051	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1190.33	33	chr16	56939293	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.383;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.971;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1280	18	0	1	0
chr16	56942199	56942199	C	G	exonic	HERPUD1	.	nonsynonymous SNV	HERPUD1:NM_001010989:exon7:c.C970G:p.P324A,HERPUD1:NM_014685:exon7:c.C973G:p.P325A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0052	0.00519169	0.0017	0.0188	0.0010	0	0	1.499e-05	0	0.0001	0.0016817	260	154602	rs35721729	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0007	3.826e-05	0	0	0.0007	2.068e-05	0.0012	5.797e-05	0.0055	0.0055	0.0061	0.0049	0.0192	0.0052	0.0051	0.0180	0.0176	0.0192	0	0.0021	0	0	0	0.0034	4.41e-05	0.0038	0	0.452	0.17069	T	0.249	0.37173	T	0.001	0.21686	B	0.003	0.19966	B	0.305236	0.03980	N	1.370100	0.999043	0.21681	N	0.895	0.22405	L	2.23	0.42888	T	-1.5	0.37375	N	0.354	0.41656	-1.0301	0.20422	T	0.046	0.19640	T	10	0.0036126077	0.00066	T	.	.	.	0.059	0.16972	.	.	0.312529679308	0.30857	0.33186606633402643	0.33099	0.192484092214	0.21576	0.225064575672	0.01623	T	0.137574	0.47059	T	-0.54949	0.00294	T	-0.545825	0.17729	T	0.0047126092861387	0.00050	T	0.849315	0.53201	T	0.058039058	0.11628	0.056990825	0.10282	0.058039058	0.11628	0.056990825	0.10282	-3.404	0.15890	T	.	.	0.056	0.00647	B	.;.;.;.	.;.;.;.	1.646812	0.21016	15.01	0.99102421233517335	0.52496	0.78648	0.38834	D	AEFDGBHCI	0.540099	0.55681	D	-0.709425362127152	0.15757	0.7968507	-0.63585378798996	0.18574	0.9928564	0.999999994972336	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.66	3.59	0.40253	1.591000	0.36275	3.986000	0.40947	0.599000	0.40250	0.213000	0.24458	0.294000	0.24182	0.575000	0.30772	0.0:0.8311:0.0:0.1689	10.562	0.44339	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1116.33	33	chr16	56942199	.	C	G	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=721;ExcessHet=0;FS=2.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-2.516;SOR=0.422	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	18	0	1	0
chr16	56975134	56975134	C	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon9:c.C784A:p.Q262K,CETP:NM_000078:exon10:c.C964A:p.Q322K	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.105607745225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.554	0.46182	T	0.001	0.20002	B	0.004	0.19653	B	0.072954	0.21377	U	0.451961	1	0.08975	N	2.34	0.67151	M	3.0	0.09167	T	-0.85	0.30346	N	0.308	0.36148	-0.9656	0.38092	T	0.018	0.07423	T	10	0.15469855	0.29175	T	0.105608	0.78080	D	0.109	0.30843	0.635	0.77142	0.289474373501	0.28556	0.34213266171814644	0.34126	0.169117213538	0.19062	0.309314519167	0.11803	T	0.115818	0.43469	T	-0.167992	0.25539	T	-0.479086	0.24544	T	0.154161669574209	0.17430	T	0.782022	0.41734	T	0.3105508	0.53834	0.16632342	0.38429	0.3105508	0.53834	0.16632342	0.38429	-3.386	0.14869	T	0.6493177497098189	0.72122	0.067	0.02578	B	.;.;.	.;.;.	0.915389	0.12898	9.410	0.96754458825891854	0.30976	0.23847	0.22207	N	AEFDBHCIJ	0.193710	0.32082	N	-0.837403982147952	0.12362	0.6021141	-0.797745416331621	0.14550	0.7608352	0.999978367446295	0.50053	0.653281	0.48532	0	0.659037	0.61890	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.26	3.26	0.36471	1.662000	0.37035	1.302000	0.25481	0.440000	0.21072	0.021000	0.19753	0.003000	0.18671	0.184000	0.21420	0.0:1.0:0.0:0.0	10.330	0.42996	711	0.56613	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	696.33	33	chr16	56975134	.	C	A	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=702;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.599;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	18	0	1	0
chr16	56983376	56983376	T	-	exonic	CETP	.	frameshift deletion	CETP:NM_001286085:exon14:c.1192delT:p.F398Sfs*35,CETP:NM_000078:exon15:c.1372delT:p.F458Sfs*35	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1541.29	35	chr16	56983375	.	CT	C	1541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=704;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.527;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331:.	18	0	1	0
chr16	56983379	56983379	G	C	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.G1195C:p.D399H,CETP:NM_000078:exon15:c.G1375C:p.D459H	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	875595	Hyperalphalipoproteinemia_1	MedGen:C3149462,OMIM:143470	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.058278163464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.004	0.76473	D	0.997	0.70673	D	0.908	0.64494	P	0.019147	0.27321	U	0.320861	0.635524	0.30661	N	1.955	0.52871	M	2.73	0.11839	T	-2.7	0.59873	D	0.295	0.36254	-1.0746	0.08431	T	0.038	0.16290	T	10	0.77127504	0.77103	D	0.058278	0.67261	D	0.176	0.44373	0.808	0.92512	0.498001352042	0.49435	0.5273450742786188	0.52658	0.612468718494	0.55841	0.389087706804	0.23541	T	0.332757	0.70269	T	-0.237499	0.15670	T	-0.578927	0.14640	T	0.93327009677887	0.59989	D	0.877512	0.59164	D	0.1922155	0.40882	0.13937493	0.33257	0.1922155	0.40882	0.13937493	0.33256	-5.758	0.49275	T	0.5479081286695002	0.61681	0.177	0.43585	B	.;.;.	.;.;.	2.376954	0.30503	18.46	0.98032682803626758	0.37728	0.54137	0.29542	D	AEFDGBI	0.426984	0.49111	N	-0.302228343564149	0.29064	1.608442	-0.408763755161747	0.24739	1.356466	0.999985984462911	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	-0.0437	0.13187	1.489000	0.35170	0.057000	0.14080	-0.137000	0.12594	0.998000	0.41325	0.013000	0.20296	0.143000	0.20056	0.4034:0.0:0.5966:0.0	5.521	0.16220	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1541.33	35	chr16	56983379	.	G	C	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.776;DP=703;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.674;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1331:.	18	0	1	0
chr16	57025490	57025490	C	T	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001330552:exon6:c.C547T:p.R183W,NLRC5:NM_001384950:exon6:c.C547T:p.R183W,NLRC5:NM_001384951:exon6:c.C547T:p.R183W,NLRC5:NM_001384952:exon6:c.C547T:p.R183W,NLRC5:NM_001384953:exon6:c.C547T:p.R183W,NLRC5:NM_001384954:exon6:c.C547T:p.R183W,NLRC5:NM_001384955:exon6:c.C547T:p.R183W,NLRC5:NM_001384956:exon6:c.C547T:p.R183W,NLRC5:NM_001384957:exon6:c.C547T:p.R183W,NLRC5:NM_001384958:exon6:c.C547T:p.R183W,NLRC5:NM_001384959:exon6:c.C547T:p.R183W,NLRC5:NM_001384960:exon6:c.C547T:p.R183W,NLRC5:NM_001384961:exon6:c.C547T:p.R183W,NLRC5:NM_001384962:exon6:c.C547T:p.R183W,NLRC5:NM_001384963:exon6:c.C547T:p.R183W,NLRC5:NM_001384964:exon6:c.C547T:p.R183W,NLRC5:NM_001384965:exon6:c.C547T:p.R183W,NLRC5:NM_001384966:exon6:c.C547T:p.R183W,NLRC5:NM_001384967:exon6:c.C547T:p.R183W,NLRC5:NM_001384968:exon6:c.C547T:p.R183W,NLRC5:NM_001384969:exon6:c.C547T:p.R183W,NLRC5:NM_001384970:exon6:c.C547T:p.R183W,NLRC5:NM_001384971:exon6:c.C547T:p.R183W,NLRC5:NM_001384972:exon6:c.C547T:p.R183W,NLRC5:NM_001384973:exon6:c.C547T:p.R183W,NLRC5:NM_032206:exon6:c.C547T:p.R183W	.	.	.	.	.	.	.	.	.	.	.	3565971	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.383	0.0862862387736	.	.	2.516e-05	0	0	0.0002	0	1.514e-05	0	0	1.94e-05	3	154602	rs750291867	8.897e-06	8.893e-06	8.171e-06	9.631e-06	1.161e-05	4.97e-06	3.83e-06	3.1e-06	2.24e-06	0	0	0.0001	0	0	0	7.197e-06	1.657e-05	1.161e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.062	0.37536	T	0.082	0.41573	T	0.997	0.70673	D	0.821	0.59116	P	0.007881	0.31148	N	0.000000	0.998576	0.22064	N	2.19	0.61577	M	-0.67	0.74477	T	-0.1	0.08495	N	0.217	0.26354	-0.5987	0.64871	T	0.418	0.76401	T	10	0.24472359	0.41708	T	0.086286	0.74706	D	0.383	0.70029	0.551	0.66716	0.549714264244	0.54628	0.27681251394833656	0.27594	0.269377542869	0.29453	0.339226126671	0.16322	T	0.080569	0.36394	T	-0.170409	0.25171	T	-0.256855	0.49138	T	0.641328871250153	0.38093	D	0.784022	0.42156	T	0.058168888	0.11671	0.03753494	0.03425	0.058168888	0.11670	0.03753494	0.03425	-5.101	0.37918	T	.	.	0.130	0.36053	B	.;.;.	.;.;.	4.023658	0.59445	24.1	0.99898717429402517	0.97124	0.39998	0.26338	N	AEFBCI	0.349811	0.44347	N	0.0341195464698621	0.43413	2.634727	-0.097763099291533	0.35483	2.053376	0.993522611969281	0.33249	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.28	1.86	0.24489	-0.079000	0.11321	-0.146000	0.11468	-0.176000	0.10722	0.087000	0.22510	0.031000	0.21272	0.012000	0.09680	0.2612:0.6163:0.1224:0.0	8.625	0.33043	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1542.33	36	chr16	57025490	.	C	T	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=753;ExcessHet=0;FS=0.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.088;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S,NLRC5:NM_001384959:exon29:c.G3859A:p.G1287S,NLRC5:NM_001384960:exon29:c.G3859A:p.G1287S,NLRC5:NM_001330552:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384951:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384954:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384956:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384965:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384966:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384967:exon30:c.G3946A:p.G1316S,NLRC5:NM_001384968:exon30:c.G3943A:p.G1315S,NLRC5:NM_001384971:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384972:exon30:c.G3709A:p.G1237S,NLRC5:NM_001384950:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384952:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384953:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384955:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384957:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384961:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384962:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384963:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384964:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384969:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384970:exon31:c.G4033A:p.G1345S,NLRC5:NM_032206:exon31:c.G4036A:p.G1346S	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003033	0.000000	0.004076	0.002924	0.000000	0.000000	0.003086	0.003788	0.07895	4185.77	35	chr16	57061497	.	G	A	4185.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.38;ReadPosRankSum=1.14;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3213,309,0	17	1	1	0
chr16	57261904	57261904	G	A	exonic	PLLP	.	nonsynonymous SNV	PLLP:NM_015993:exon2:c.C302T:p.P101L	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0141122693316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258341353	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.175	0.29945	T	0.778	0.44187	P	0.479	0.47059	P	0.000019	0.62929	D	0.156920	0.999998	0.81001	D	1.75	0.45442	L	1.7	0.26885	T	-3.18	0.64478	D	0.398	0.43899	-1.1307	0.01749	T	0.074	0.29802	T	10	0.44826815	0.58535	T	0.014112	0.34004	T	0.226	0.52472	0.775	0.90080	0.134007934775	0.12933	0.7713383624967579	0.77083	1.32854930742	0.83599	0.506055951118	0.39671	T	0.069462	0.51318	T	-0.106788	0.35299	T	-0.39117	0.34415	T	0.960485756397247	0.65818	D	0.891311	0.63166	D	0.19256955	0.40932	0.19648759	0.43382	0.19256955	0.40932	0.19648759	0.43381	-5.021	0.37067	T	.	.	0.156	0.48756	B	.;.;.	.;.;.	4.807556	0.78178	26.8	0.94786144948805073	0.25521	0.89975	0.50800	D	AEFBI	0.341150	0.43773	N	0.280330317062332	0.55150	3.679502	0.37094649822938	0.59778	4.158803	0.999981000640221	0.51787	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.563494	0.21769	0	.	.	5.62	5.62	0.85714	3.920000	0.56158	11.719000	0.94784	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:1.0:0.0	19.244	0.93880	537	0.73184	Marvel domain|Marvel domain;Marvel domain|Marvel domain;Marvel domain|Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	34	chr16	57261904	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=751;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.305;SOR=0.56	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr16	57436730	57436730	T	C	exonic	CIAPIN1	.	nonsynonymous SNV	CIAPIN1:NM_001308347:exon4:c.A274G:p.N92D,CIAPIN1:NM_001308358:exon4:c.A313G:p.N105D,CIAPIN1:NM_020313:exon4:c.A313G:p.N105D	.	.	.	.	.	.	.	.	.	.	.	2334855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00548217456574	0.0003	0.000199681	0.0002	0	8.663e-05	0	0	0.0003	0	6.069e-05	0.0001617	25	154602	rs200237174	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0003	0.0006	0	0	0.0021	0.0001	0.0003	5.801e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.217e-05	0	0.0003	0.0009	0	0	0	0.0003	0.0005	0.0004	0.203	0.31088	T	0.584	0.44302	T	0.001	0.07471	B	0.001	0.04355	B	0.032222	0.25058	N	0.429079	0.859545	0.81001	D	2.14	0.59869	M	0.99	0.41750	T	-0.62	0.22727	N	0.205	0.25745	-1.0579	0.12286	T	0.061	0.25419	T	10	0.022553086	0.00566	T	0.005482	0.14106	T	0.027	0.05988	.	.	0.225902525712	0.22197	0.30394669860518425	0.30307	0.24317291604	0.26821	0.470161497593	0.34702	T	0.060588	0.31428	T	-0.496108	0.00601	T	-0.644424	0.09349	T	0.0271143410093851	0.01560	T	0.69993	0.30971	T	0.1401121	0.32339	0.09029306	0.21166	0.1401121	0.32338	0.09029306	0.21166	-3.768	0.20327	T	.	.	0.066	0.06525	B	.;.;.;.;.;.	.;.;.;.;.;.	2.004907	0.25474	16.78	0.98955394573583022	0.49227	0.18043	0.20095	N	AEFDBI	0.076630	0.15419	N	-0.670901365661186	0.16854	0.8623446	-0.576543868107011	0.20105	1.081721	0.122331118034537	0.16911	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.06	1.4	0.21393	0.035000	0.13685	0.100000	0.14636	0.650000	0.52971	0.479000	0.26792	0.105000	0.22724	0.947000	0.49155	0.0:0.1655:0.1523:0.6822	5.212	0.14645	719	0.55657	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	454.33	40	chr16	57436730	.	T	C	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=668;ExcessHet=0;FS=2.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.951;SOR=0.463	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1241	18	0	1	0
chr16	57440828	57440828	G	A	exonic	CIAPIN1	.	nonsynonymous SNV	CIAPIN1:NM_001308347:exon2:c.C101T:p.A34V,CIAPIN1:NM_001308358:exon2:c.C101T:p.A34V,CIAPIN1:NM_020313:exon2:c.C101T:p.A34V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00112056683334	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.08e-05	1.94e-05	3	154602	rs11557672	5.542e-05	5.541e-05	4.629e-05	6.464e-05	0.0003	4.544e-05	4.156e-05	0.0001	0.0001	0.0003	2.237e-05	0	0.0001	0	0.0002	5.396e-05	1.656e-05	4.638e-05	8.547e-05	8.537e-05	0.0001	5.384e-05	0.0001	4.96e-05	3.965e-05	5.842e-05	4.239e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.305	0.23813	T	0.295	0.24123	T	0.001	0.14184	B	0.0	0.04355	B	0.477654	0.04962	N	1.395360	1	0.08975	P	0.65	0.16133	N	1.49	0.33412	T	-1.32	0.37566	N	0.077	0.18239	-1.0668	0.10131	T	0.058	0.24502	T	9	0.03337139	0.01511	T	0.001121	0.01360	T	0.053	0.14996	0.417	0.45709	0.144782658237	0.14088	0.32444584737623094	0.32357	0.212098222212	0.23704	0.227265760303	0.01772	T	0.046331	0.27392	T	-0.551488	0.00286	T	-0.793282	0.02076	T	0.0164061984973536	0.00407	T	0.0640936	0.00676	T	0.046205677	0.07694	0.042382166	0.05034	0.046205677	0.07694	0.042382166	0.05034	-4.778	0.34333	T	.	.	0.064	0.02578	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.447254	0.08175	4.908	0.89077577347350756	0.18492	0.02201	0.06424	N	AEFDGBIJ	0.032384	0.03648	N	-1.36069717930519	0.03015	0.1340455	-1.50325739058306	0.02319	0.1064677	0.999999999284007	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	-9.96	0.00366	-1.089000	0.03486	-1.317000	0.05732	-0.046000	0.17342	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.0939:0.1347:0.3108:0.4606	3.789	0.08233	713	0.56348	Methyltransferase type 11;.;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11;Methyltransferase type 11	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2111.33	41	chr16	57440828	.	G	A	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=796;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.642;SOR=0.81	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1481	18	0	1	0
chr16	57459679	57459679	C	T	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon7:c.C826T:p.R276W	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	0	1489	31	2	0	35	0.0116163	.	.	.	375490	Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome|not_provided	MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.886	.	0.0012	0.00419329	0.0040	9.621e-05	0.0011	0.0002	0.0145	0.0030	0.0066	0.0098	0.0035899	555	154602	rs143587648	0.0023	0.0023	0.0021	0.0025	0.0086	0.0022	0.0022	0.0081	0.0079	0.0002	0.0013	0.0052	7.557e-05	0.0142	0.0066	0.0013	0.0029	0.0086	0.0029	0.0029	0.0023	0.0035	0.0089	0.0027	0.0026	0.0068	0.0061	0.0002	0	0.0024	0.0063	0	0.0145	0.0068	0.0025	0.0028	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.054147	0.999885	0.81001	D	4.07	0.97156	H	.	.	.	-7.73	0.95732	D	0.954	0.96302	0.047	0.83182	D	0.466	0.79394	T	9	0.01753962	0.00375	T	.	.	.	0.886	0.96688	.	.	0.510172456258	0.50658	0.9256845987477227	0.92545	0.691221074045	0.60582	0.667912483215	0.62540	T	0.438465	0.82265	T	0.118015	0.66173	D	0.403567	0.92227	D	0.16609237826268	0.18310	T	0.957704	0.84340	D	0.9400331	0.95251	0.92282975	0.96596	0.9594381	0.97224	0.9206049	0.96441	-13.55	0.91502	D	0.8294326259952107	0.90059	0.661	0.85467	P	.;.;.;.	.;.;.;.	4.650829	0.74135	26.1	0.9988109784762742	0.95733	0.93821	0.59288	D	AEFBI	0.903618	0.85292	D	0.483961660391481	0.66152	4.913476	0.373120141421248	0.59912	4.173353	0.996397423921556	0.34715	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	2.44	0.28875	2.238000	0.42719	2.224000	0.31475	-0.223000	0.07921	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.3377:0.5487:0.1136:0.0	9.525	0.38322	665	0.61472	COQ9;COQ9;COQ9;COQ9	.	.	.	.	rs143587648	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.011364	0.02632	1582.33	36	chr16	57459679	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=760;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.038;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1380	18	0	1	0
chr16	57475866	57475866	A	G	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon2:c.T158C:p.L53P,DOK4:NM_001369621:exon2:c.T158C:p.L53P,DOK4:NM_001369618:exon3:c.T158C:p.L53P,DOK4:NM_001369619:exon3:c.T158C:p.L53P,DOK4:NM_001369620:exon3:c.T158C:p.L53P,DOK4:NM_018110:exon3:c.T158C:p.L53P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.0761505445867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.72154	T	0.012	0.63918	D	0.987	0.61912	D	0.934	0.66904	D	0.000093	0.51296	D	0.079681	1	0.81001	D	1.04	0.26193	L	-0.63	0.72458	T	-2.72	0.79743	D	0.502	0.53972	-0.4199	0.71396	T	0.399	0.75073	T	10	0.76413333	0.78785	D	0.076151	0.72462	D	0.504	0.78600	0.592	0.72123	0.989457058007	0.98933	0.6752440013855864	0.67462	1.22826024577	0.81256	0.805297553539	0.82770	D	0.214489	0.57609	T	0.0885232	0.63023	D	-0.110619	0.62562	T	0.965833723545074	0.67391	D	0.807119	0.47234	T	0.5059399	0.67443	0.581058	0.75716	0.5059399	0.67444	0.581058	0.75717	-4.031	0.24266	T	.	.	0.337	0.59016	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.047655	0.84050	28.2	0.99883842386199495	0.95970	0.94769	0.62266	D	ALL	0.983681	0.99930	D	0.655722696773364	0.76742	6.542481	0.683216943712232	0.81105	7.44957	1.0	0.98316	0.714207	0.82060	0	0.616935	0.53198	0	0.648423	0.49468	0	0.526803	0.08958	0	.	.	5.44	5.44	0.79348	7.456000	0.79796	11.152000	0.87379	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.486	0.60818	624	0.65661	Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;Pleckstrin homology domain|DOK4/5/6, PH domain;DOK4/5/6, PH domain;DOK4/5/6, PH domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	776.33	33	chr16	57475866	.	A	G	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.147;DP=707;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.37;SOR=0.443	GT:AD:DP:GQ:PL	0/1:37,33:70:99:790,0,917	18	0	1	0
chr16	57653238	57653238	G	C	exonic	ADGRG1	.	nonsynonymous SNV	ADGRG1:NM_001145773:exon4:c.G538C:p.D180H,ADGRG1:NM_001370429:exon4:c.G523C:p.D175H,ADGRG1:NM_001370430:exon4:c.G523C:p.D175H,ADGRG1:NM_001370432:exon4:c.G523C:p.D175H,ADGRG1:NM_001370433:exon4:c.G538C:p.D180H,ADGRG1:NM_001370435:exon4:c.G523C:p.D175H,ADGRG1:NM_001370438:exon4:c.G523C:p.D175H,ADGRG1:NM_001370439:exon4:c.G523C:p.D175H,ADGRG1:NM_001370441:exon4:c.G523C:p.D175H,ADGRG1:NM_201525:exon4:c.G523C:p.D175H,ADGRG1:NM_001145770:exon5:c.G523C:p.D175H,ADGRG1:NM_001145771:exon5:c.G523C:p.D175H,ADGRG1:NM_001145772:exon5:c.G523C:p.D175H,ADGRG1:NM_001145774:exon5:c.G523C:p.D175H,ADGRG1:NM_001370428:exon5:c.G523C:p.D175H,ADGRG1:NM_001370431:exon5:c.G523C:p.D175H,ADGRG1:NM_001370434:exon5:c.G523C:p.D175H,ADGRG1:NM_001370436:exon5:c.G523C:p.D175H,ADGRG1:NM_001370437:exon5:c.G523C:p.D175H,ADGRG1:NM_001370440:exon5:c.G523C:p.D175H,ADGRG1:NM_001370442:exon5:c.G367C:p.D123H,ADGRG1:NM_005682:exon5:c.G523C:p.D175H,ADGRG1:NM_201524:exon5:c.G523C:p.D175H	Polymicrogyria, bilateral frontoparietal, Autosomal recessive;Polymicrogyria, bilateral perisylvian	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.154903705353	.	.	8.509e-06	0	0	0	0	0	0	6.09e-05	6.5e-06	1	154602	rs769565872	6.164e-06	6.156e-06	2.726e-06	9.636e-06	0.0003	2.9e-06	2.1e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.65419	D	0.047	0.92824	D	0.958	0.54977	D	0.742	0.55764	P	0.056445	0.22559	N	0.432853	1	0.81001	D	.	.	.	0.74	0.92938	T	-0.94	0.78553	N	0.644	0.66101	-0.8727	0.50326	T	0.175	0.51911	T	10	0.29410666	0.46984	T	0.154904	0.83593	D	0.123	0.34020	0.352	0.35084	0.937719759198	0.93707	0.4639340050164574	0.46312	.	.	0.566772222519	0.48222	T	0.163741	0.50892	T	0.0255977	0.55133	T	-0.0194792	0.69062	D	0.511721193790436	0.33061	D	0.873613	0.58243	D	0.0536739	0.10191	0.07743804	0.17249	0.0536739	0.10191	0.07743804	0.17248	-4.601	0.32184	T	0.2326134827486379	0.31484	0.295	0.73251	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.205528	0.43612	21.8	0.99107873282852799	0.52648	0.79067	0.39111	D	AEFDBCI	0.284281	0.39719	N	0.0623776025426772	0.44714	2.740441	-0.043853670054189	0.37758	2.215086	0.999890649774634	0.45129	0.706548	0.73137	0	0.610034	0.51514	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.57	3.6	0.40374	3.063000	0.49672	7.085000	0.57485	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.105:0.0:0.895:0.0	8.782	0.33955	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1255.33	35	chr16	57653238	.	G	C	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.128;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr16	57679189	57679189	G	A	exonic	ADGRG3	.	nonsynonymous SNV	ADGRG3:NM_001308360:exon4:c.G145A:p.G49S,ADGRG3:NM_170776:exon5:c.G505A:p.G169S	.	423	1098	1	0	0	1	0.000455166	.	.	.	4124306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00509636501075	.	.	8.246e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748394746	4.789e-06	4.788e-06	2.723e-06	6.877e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	1.799e-06	3.312e-05	2.319e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.609	0.05485	T	0.578	0.08565	T	0.004	0.12183	B	0.002	0.06944	B	0.782786	0.06664	N	1.111830	1	0.08975	N	.	.	.	1.66	0.27486	T	0.58	0.02853	N	0.083	0.06059	-0.9871	0.33323	T	0.015	0.05994	T	10	0.03132212	0.01266	T	0.005096	0.12908	T	0.019	0.03383	0.325	0.30711	0.0138822411134	0.00435	0.2847117858820071	0.28384	0.130843865944	0.14763	0.269789993763	0.06114	T	0.014298	0.12197	T	-0.539752	0.00336	T	-0.831565	0.01235	T	0.0290543416412276	0.01845	T	0.521348	0.16985	T	0.038884487	0.05266	0.03665926	0.03158	0.038884487	0.05266	0.03665926	0.03157	-4.668	0.33015	T	.	.	0.067	0.02993	B	.;.	.;.	0.201427	0.05860	2.302	0.7514812871584805	0.10963	0.00514	0.02403	N	AEFDBI	0.040401	0.06005	N	-1.67763129044833	0.00924	0.04001766	-1.62197114644339	0.01527	0.06916675	0.999815131298453	0.43459	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.5	-2.78	0.05512	-0.301000	0.08269	1.007000	0.23304	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.295:0.216:0.3435:0.1456	1.320	0.01986	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	829.33	35	chr16	57679189	.	G	A	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.738;DP=740;ExcessHet=0;FS=1.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.436;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr16	57724815	57724815	T	C	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon11:c.T1543C:p.S515P,DRC7:NM_032269:exon12:c.T1738C:p.S580P,DRC7:NM_001289162:exon13:c.T1738C:p.S580P	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00574195076787	0.0032	0.00199681	0.0026	0.0005	0.0009	0	0.0002	0.0043	0.0012	0.0007	0.0026196	405	154602	rs115241876	0.0034	0.0034	0.0033	0.0035	0.0061	0.0033	0.0033	0.0045	0.0039	0.0008	0.0013	0.0095	0	0.0005	0.0061	0.0039	0.0039	0.0007	0.0026	0.0026	0.0026	0.0025	0.0040	0.0024	0.0023	0.0036	0.0035	0.0007	0	0.0026	0.0092	0	0.0005	0.0102	0.0040	0.0043	0.0006	0.094	0.31834	T	0.296	0.20615	T	0.966	0.60733	D	0.735	0.57754	P	0.600808	0.10960	N	0.814347	1	0.08975	N	.	.	.	3.03	0.10291	T	-2.16	0.48850	N	0.412	0.45331	-1.0643	0.10713	T	0.038	0.16203	T	10	0.0039655864	0.00076	T	0.005742	0.14892	T	0.119	0.33137	.	.	0.213573922156	0.20996	0.6133189093682226	0.61263	0.643341671489	0.57872	0.387464344501	0.23312	T	0.02847	0.20618	T	-0.486834	0.00676	T	-0.472087	0.25293	T	0.0240579176413542	0.01153	T	0.725427	0.34027	T	0.2693511	0.50007	0.35582975	0.61104	0.2693511	0.50006	0.35582975	0.61103	-3.349	0.14378	T	.	.	0.137	0.35477	B	.;.;.	.;.;.	2.735123	0.35810	20.0	0.99731537612296239	0.82833	0.11049	0.16373	N	AEFI	0.167361	0.29403	N	0.0622445200864493	0.44707	2.739938	-0.0591651065301367	0.37096	2.167	0.00394398692654133	0.10351	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.29	4.09	0.47038	0.126000	0.15597	2.273000	0.31844	0.665000	0.62972	0.000000	0.06391	0.996000	0.32793	0.684000	0.33659	0.1385:0.0:0.2281:0.6334	6.491	0.21315	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.017241	0.009146	0.003788	0.05263	3800.83	35	chr16	57724815	.	T	C	3800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.01;DP=894;ExcessHet=0.119;FS=0.461;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=1.87;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	17	0	2	0
chr16	57727369	57727369	C	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon14:c.C1961A:p.T654N,DRC7:NM_032269:exon15:c.C2156A:p.T719N,DRC7:NM_001289162:exon16:c.C2156A:p.T719N	.	425	1082	15	0	0	15	0.00688389	.	.	.	2382995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0173116942662	0.0005	0.000798722	0.0009	0.0002	0.0015	0.0001	0.0002	0.0012	0.0011	0.0008	0.0008991	139	154602	rs140762606	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0013	0.0015	0	9.439e-05	0.0177	0.0007	0.0013	0.0008	0.0009	0.0009	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0009	0.0002	0.0219	0.0016	0.0023	0.0002	0	0	0.0010	0.0005	0.0004	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.88582	D	0.002772	0.35968	N	0.267208	0.999994	0.58761	D	.	.	.	2.9	0.11839	T	-3.81	0.74193	D	0.348	0.39962	-0.9171	0.45945	T	0.116	0.41031	T	10	0.0111756325	0.00245	T	0.017312	0.38957	T	0.190	0.46781	.	.	0.315903272564	0.31202	0.6341422282905357	0.63348	0.262623937004	0.28828	0.705690860748	0.67968	T	0.261101	0.63255	T	-0.355302	0.04402	T	-0.30777	0.43898	T	0.0801970873725517	0.10012	T	0.889011	0.63166	D	0.76812834	0.81935	0.80379045	0.88508	0.76812834	0.81937	0.80379045	0.88508	-3.826	0.21193	T	.	.	0.360	0.58919	A	.;.;.	.;.;.	3.953076	0.57923	23.9	0.99381531878884688	0.61891	0.92372	0.55559	D	AEFDI	0.504910	0.53627	D	0.564766054813788	0.70986	5.582712	0.469142162123264	0.65954	4.889665	0.999757376485812	0.42595	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	2.832000	0.47853	5.850000	0.50329	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	16.099	0.80961	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.008152	0.014620	0.000000	0.008621	0.003067	0.003788	0.05263	2780.83	34	chr16	57727369	.	C	A	2780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=862;ExcessHet=0.119;FS=0.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.87;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1374	17	0	2	0
chr16	57731168	57731168	C	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon17:c.C2340A:p.H780Q,DRC7:NM_032269:exon18:c.C2535A:p.H845Q,DRC7:NM_001289162:exon19:c.C2535A:p.H845Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0750161828526	.	.	4.137e-05	0	0	0.0005	0	0	0.0011	0	3.23e-05	5	154602	rs764883309	9.579e-06	9.577e-06	6.807e-06	1.238e-05	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0	8.993e-07	1.656e-05	0	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0006	5.23e-06	2.45e-06	0.0002	8.368e-05	0	0	0	0	0.0006	0	0	0	0	0	0.066	0.37536	T	0.127	0.35082	T	0.999	0.77913	D	0.968	0.71741	D	0.000118	0.50451	D	0.169822	0.942164	0.37361	D	.	.	.	0.85	0.47130	T	-5.21	0.87687	D	0.556	0.58117	-0.4225	0.71310	T	0.290	0.66143	T	10	0.3903907	0.54849	T	0.075016	0.72183	D	0.217	0.51112	0.431	0.48007	0.540835050783	0.53735	0.5387961438789969	0.53804	0.694318581252	0.60760	0.629613399506	0.57091	T	0.272989	0.64542	T	-0.199374	0.20896	T	-0.194162	0.55198	T	0.865470468997955	0.51558	D	0.831917	0.50261	T	0.4612566	0.64749	0.46819538	0.69151	0.4612566	0.64749	0.46819538	0.69152	-7.65	0.58659	D	.	.	0.783	0.76778	P	.;.;.	.;.;.	3.403089	0.47175	22.4	0.99488819630520198	0.67347	0.85483	0.44620	D	AEFI	0.470366	0.51636	N	0.627847986480399	0.74944	6.219317	0.600531562109012	0.74978	6.230087	0.997020916830123	0.35208	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.399000	0.44148	2.178000	0.31107	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.1575:0.8425:0.0:0.0	13.441	0.60562	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2777.33	34	chr16	57731168	.	C	A	2777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=859;ExcessHet=0;FS=2.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.234;SOR=0.863	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	18	0	1	0
chr16	57753131	57753131	C	T	exonic	KATNB1	.	nonsynonymous SNV	KATNB1:NM_005886:exon11:c.C910T:p.R304C	Lissencephaly 6, with microcephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1305047	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.093163241219	.	.	3.373e-05	0	0	0	0	6.164e-05	0	0	0.0001921	5	26028	.	2.605e-05	2.805e-05	3.137e-05	2.067e-05	0.0002	1.936e-05	1.695e-05	3.35e-05	1.982e-05	0	2.239e-05	7.662e-05	0.0001	0	0.0002	2.249e-05	6.629e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.004	0.65419	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.45	0.56446	T	-3.8	0.71762	D	0.792	0.78832	-0.4894	0.69030	T	0.305	0.67603	T	10	0.7396673	0.74867	D	0.093163	0.76022	D	0.406	0.71869	0.499	0.58991	0.683924616203	0.68122	0.5133707793466322	0.51259	0.773961178241	0.64921	0.709570229053	0.68531	T	0.227368	0.59264	T	0.0236178	0.54868	T	-0.0961941	0.63691	T	0.939059495925903	0.61019	D	0.953705	0.82322	D	0.38412842	0.59613	0.22743152	0.47753	0.38412842	0.59613	0.22743152	0.47752	-8.924	0.67207	D	.	.	0.185	0.40065	B	.	.	4.180035	0.62914	24.5	0.99810998107114235	0.89442	0.71676	0.35116	D	AEFDBCI	0.421143	0.48768	N	0.102583545791392	0.46583	2.896456	-0.0203798596520738	0.38795	2.290834	0.989208280027133	0.31753	0.732398	0.92422	0	0.709663	0.81188	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.95	2.9	0.32809	1.878000	0.39244	2.908000	0.35491	-0.316000	0.05924	0.885000	0.31090	0.994000	0.32194	0.546000	0.30079	0.4735:0.5265:0.0:0.0	12.443	0.54971	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1409.33	45	chr16	57753131	.	C	T	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.834;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.351;SOR=0.639	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1224	18	0	1	0
chr16	57785567	57785567	T	C	exonic	KIFC3	.	nonsynonymous SNV	KIFC3:NM_001318711:exon3:c.A38G:p.Q13R	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	.	0.0153754	0.0183	0	0.0217	0.0354	0	0.0008	0	0.0277	0.0026843	415	154602	rs117391586	0.0037	0.0029	0.0029	0.0044	0.0290	0.0036	0.0035	0.0273	0.0268	0.0003	0.0289	0.0009	0.0290	0.0192	0.0020	0.0003	0.0069	0.0282	0.0055	0.0055	0.0041	0.0069	0.0353	0.0052	0.0051	0.0310	0.0293	0.0006	0	0.0122	0.0014	0.0286	0.0224	0	0.0007	0.0090	0.0353	0.078	0.33923	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.79	0.49846	N	.	.	-0.9003	0.47962	T	0.138	0.45545	T	8	0.0025357008	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042217	0.26110	T	-0.591504	0.00164	T	-0.598056	0.12975	T	0.00988657605430806	0.00131	T	0.557644	0.19406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.;.	.;.	2.202405	0.28093	17.68	0.99651737093133308	0.77317	0.73265	0.35840	D	AEFDBHCI	0.376662	0.46073	N	-0.261976542406361	0.30629	1.709569	-0.150478413643836	0.33391	1.909482	0.929879941433019	0.26985	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.74	2.47	0.29113	1.817000	0.38640	1.758000	0.28530	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1983:0.0:0.8017	6.568	0.21722	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.33	34	chr16	57785567	.	T	C	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-0.112;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	18	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2171.83	33	chr16	57813723	.	T	*	2171.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.721;DP=861;ExcessHet=0.0107;FS=0.87;InbreedingCoeff=0.4747;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=-0.517;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:93:99:.:.:1081,1216,2651:.	16	2	1	0
chr16	57977823	57977823	C	T	exonic	TEPP	.	nonsynonymous SNV	TEPP:NM_199046:exon2:c.C7T:p.R3C,TEPP:NM_199456:exon2:c.C7T:p.R3C	.	429	1091	2	0	0	2	0.000915751	.	.	.	2220196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0264450815533	0.0002	0.000199681	0.0002	0.0002	0	0	0.0002	0.0003	0	0	0.0001552	24	154602	rs201920869	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.95e-05	0	0	7.491e-05	0	0.0002	0.0001	0	0.0001	0.0001	8.992e-05	0.0001	0.0002	6.505e-05	5.318e-05	9.047e-05	7.011e-05	7.215e-05	0	6.536e-05	0	0	9.418e-05	0	0.0002	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.938	0.67350	D	0.842023	0.09026	N	0.914461	0.552922	0.31319	N	1.795	0.47270	L	0.53	0.55090	T	-3.33	0.66206	D	0.46	0.49692	-0.5712	0.65967	T	0.304	0.67492	T	10	0.28937495	0.46519	T	0.026445	0.49355	D	0.131	0.35738	.	.	0.531146924565	0.52762	0.5455840657894095	0.54484	0.384708731815	0.39768	0.284766107798	0.08166	T	0.21795	0.58054	T	-0.299233	0.08733	T	-0.361627	0.37863	T	0.22304179209569	0.21615	T	0.793521	0.43550	T	0.21526146	0.43954	0.2146544	0.46025	0.21526146	0.43954	0.2146544	0.46024	-4.814	0.35814	T	.	.	0.143	0.31507	B	.;.	.;.	4.326713	0.66269	24.9	0.99916820887903557	0.98449	0.53211	0.29317	D	AEFDGBHCI	0.194255	0.32135	N	0.378904428683413	0.60279	4.215278	0.28915306999717	0.54906	3.654315	0.999999999997933	0.74766	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	4.43	3.46	0.38718	2.415000	0.44289	2.714000	0.34259	0.479000	0.22080	0.992000	0.37556	0.592000	0.25676	0.540000	0.29938	0.0:0.8933:0.0:0.1067	9.036	0.35449	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	569.33	33	chr16	57977823	.	C	T	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.425;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-1.366;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	18	0	1	0
chr16	58040657	58040657	A	G	exonic	MMP15	.	nonsynonymous SNV	MMP15:NM_002428:exon5:c.A869G:p.K290R	.	378	1142	1	1	0	3	0.00131176	.	.	.	3989617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00763201221195	.	.	2.475e-05	9.625e-05	0	0	0	1.502e-05	0	6.056e-05	3.23e-05	5	154602	rs199719401	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	5.974e-05	2.236e-05	0	2.519e-05	0	0.0002	1.529e-05	4.967e-05	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.231	0.18246	T	0.386	0.15698	T	0.001	0.07471	B	0.01	0.14941	B	0.000001	0.62929	D	0.057817	0.837464	0.35013	D	0.59	0.15444	N	2.06	0.20523	T	-0.79	0.21860	N	0.275	0.31140	-1.0494	0.14565	T	0.041	0.17742	T	10	0.20558804	0.36790	T	0.007632	0.20246	T	0.065	0.18881	.	.	0.174091166621	0.17034	0.35394603346421966	0.35308	0.324208047398	0.34584	0.353312849998	0.18409	T	0.051439	0.28879	T	-0.38905	0.02729	T	-0.593966	0.13324	T	0.183577999472618	0.19458	T	0.818618	0.47570	T	0.29512215	0.52465	0.17471944	0.39887	0.29512215	0.52464	0.17471944	0.39887	-2.846	0.08615	T	.	.	0.064	0.01622	B	.	.	2.391529	0.30716	18.52	0.56200135159367492	0.05501	0.94630	0.61795	D	AEFDBI	0.774295	0.70805	D	-0.251022805647126	0.31064	1.738087	-0.0771960679269386	0.36335	2.113247	0.995009843913216	0.33904	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.17	5.17	0.70848	4.279000	0.58747	5.317000	0.48280	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	1.0:0.0:0.0:0.0	14.196	0.65211	611	0.66908	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2894.33	322	chr16	58040657	.	A	G	2894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.088;DP=952;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-1.341;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1351	18	0	1	0
chr16	58164115	58164115	C	T	exonic	CSNK2A2	.	nonsynonymous SNV	CSNK2A2:NM_001896:exon11:c.G1009A:p.A337T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00609528437923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.317	0.20680	T	0.0	0.02946	B	0.001	0.04355	B	0.076523	0.21158	N	0.525534	0.790401	0.34379	D	0.225	0.09600	N	-0.2	0.66113	T	-0.34	0.12661	N	0.152	0.15609	-0.9498	0.41006	T	0.131	0.44088	T	10	0.107343554	0.19935	T	0.006095	0.15934	T	0.076	0.22200	0.417	0.45709	0.504470153462	0.50083	0.3083720343010028	0.30750	1.11560658413	0.78161	0.446868777275	0.31517	T	0.271032	0.64334	T	-0.158912	0.26928	T	-0.466043	0.25943	T	0.101115866156107	0.12479	T	0.79802	0.45382	T	0.030182857	0.02639	0.045773044	0.06232	0.030182857	0.02638	0.045773044	0.06231	-3.778	0.20476	T	.	.	0.066	0.02313	B	.;.	.;.	2.505942	0.32358	19.02	0.85743226592702881	0.16084	0.87726	0.47363	D	AEFGBI	0.172711	0.29975	N	-0.3248336662167	0.28208	1.553945	-0.157429906021511	0.33123	1.891491	0.365583535303602	0.19819	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	2.66	0.30672	0.585000	0.23580	0.460000	0.18609	0.599000	0.40250	0.743000	0.29058	0.037000	0.21475	1.000000	0.97212	0.449:0.4627:0.0:0.0883	6.601	0.21895	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1289.33	35	chr16	58164115	.	C	T	1289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.939;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.298;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr16	58258525	58258525	T	C	splicing	CCDC113	NM_014157:exon4:c.546+2T>C;NM_001142302:exon3:c.384+2T>C	.	.	.	0	225	1	0	0	1	0.00221729	0.9888	0.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259498	0.79484	D	0.134974	0.79218	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.769368	0.77191	26.7	0.99372499120677349	0.61498	0.96917	0.71647	D	AEFDIJ	.	.	.	0.987979561744433	0.95362	13.54862	0.811490197767643	0.90581	10.47269	0.999992884620203	0.74766	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.057018	0.00518	0	0.953317	0.62732	5.1	5.1	0.68917	5.103000	0.64415	7.679000	0.65195	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:0.0:1.0	13.125	0.58766	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	841.33	38	chr16	58258525	.	T	C	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=709;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.262;SOR=0.808	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1292	18	0	1	0
chr16	58280591	58280591	G	C	exonic	PRSS54	.	nonsynonymous SNV	PRSS54:NM_001305174:exon6:c.C524G:p.P175R,PRSS54:NM_001080492:exon7:c.C821G:p.P274R,PRSS54:NM_001305173:exon7:c.C821G:p.P274R	.	.	.	.	.	.	.	.	.	.	.	3379370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.123268698251	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs771527375	2.736e-06	2.736e-06	2.722e-06	2.75e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	0	1.159e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.022	0.57587	D	0.974	0.57829	D	0.621	0.51426	P	0.528048	0.05241	N	1.252590	1	0.08975	N	1.495	0.37439	L	-2.52	0.89363	D	-4.81	0.80767	D	0.169	0.26233	-0.3884	0.72392	T	0.572	0.84508	D	10	0.27265018	0.44810	T	0.123269	0.80440	D	0.293	0.61272	0.334	0.32167	0.722556352178	0.72010	0.6431263960902601	0.64247	0.536488904046	0.50979	0.250114262104	0.03780	T	0.081612	0.36639	T	-0.00998901	0.50267	T	-0.236639	0.51126	T	0.404587899775714	0.29115	T	0.433057	0.11799	T	0.06717892	0.14523	0.117902815	0.28461	0.06717892	0.14523	0.117902815	0.28460	-3.436	0.15545	T	.	.	0.078	0.22208	B	.;.;.;.	.;.;.;.	1.786247	0.22706	15.73	0.99258523870361348	0.57121	0.09750	0.15435	N	AEFDGBCIJ	0.070558	0.14012	N	-0.371215685635222	0.26500	1.446729	-0.512406999847911	0.21816	1.181981	0.999989859277836	0.51787	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.586402	0.36253	0	.	.	5.95	1.52	0.22158	0.069000	0.14419	1.045000	0.23589	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.086000	0.17578	0.1568:0.1391:0.5605:0.1436	3.015	0.05688	769	0.49307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1456.33	131	chr16	58280591	.	G	C	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.779;DP=843;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.349;SOR=0.813	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr16	58543495	58543495	G	-	exonic	CNOT1	.	frameshift deletion	CNOT1:NM_206999:exon31:c.4546delC:p.H1516Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.343e-06	9.577e-06	8.506e-06	1.02e-05	0.0001	5.21e-06	4.02e-06	7.081e-05	5.292e-05	0	0	0	0	0	0	0	5.228e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1440.29	96	chr16	58543494	.	TG	T	1440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=1617;ExcessHet=0;FS=3.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.54;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,0:105:99:.:.:0,120,1800:.	18	0	1	0
chr16	58543497	58543498	TT	-	exonic	CNOT1	.	frameshift deletion	CNOT1:NM_206999:exon31:c.4543_4544del:p.N1515Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.325e-06	9.577e-06	8.494e-06	1.018e-05	0.0001	5.2e-06	4.01e-06	6.953e-05	5.271e-05	0	0	0	0	0	0	0	5.219e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1455.29	96	chr16	58543496	.	ATT	A	1455.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1619;ExcessHet=0;FS=2.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.379;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,0:105:99:.:.:0,120,1800:.	18	0	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369609:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369611:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369608:exon3:c.A29G:p.Y10C,SLC38A7:NM_001369610:exon3:c.A29G:p.Y10C,SLC38A7:NM_018231:exon3:c.A29G:p.Y10C	.	430	1087	5	0	0	5	0.00229463	.	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1055.33	33	chr16	58680098	.	T	C	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=779;ExcessHet=0;FS=5.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.206;SOR=1.348	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,104,1666	18	0	1	0
chr16	66392357	66392357	C	A	exonic	CDH5	.	nonsynonymous SNV	CDH5:NM_001795:exon7:c.C1191A:p.D397E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.248409330383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.695	0.94570	H	-1.05	0.76690	T	-3.58	0.69118	D	0.839	0.83473	0.336	0.88119	D	0.671	0.88590	D	9	0.974392	0.97148	D	0.248409	0.89009	D	0.699	0.89145	0.869	0.96265	0.823520775211	0.82185	0.8334020186628915	0.83299	0.666063249516	0.59173	0.537447214127	0.44084	T	0.559537	0.85231	D	0.378492	0.88612	D	0.305901	0.88467	D	0.979908816777994	0.73075	D	0.784022	0.42156	T	0.4976942	0.66959	0.48019907	0.69895	0.4976942	0.66960	0.48019907	0.69896	-9.396	0.70210	D	.	.	0.895	0.88466	P	.;.;.	.;.;.	2.734095	0.35793	19.99	0.99564613156493509	0.72014	0.93133	0.57412	D	AEFDBCI	0.596295	0.59052	D	0.454593069453107	0.64464	4.701599	0.286451304098421	0.54747	3.638864	0.991733951200214	0.32591	0.67177	0.52595	0	0.573888	0.26702	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.73	2.71	0.31092	0.796000	0.26646	0.822000	0.21862	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.016000	0.10718	0.0:0.7004:0.0:0.2996	8.332	0.31354	632	0.64850	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2213.33	33	chr16	66392357	.	C	A	2213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.851;DP=760;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.185;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	18	0	1	0
chr16	66480891	66480891	G	A	exonic	BEAN1	.	nonsynonymous SNV	BEAN1:NM_001136106:exon4:c.G419A:p.R140Q,BEAN1:NM_001178020:exon5:c.G746A:p.R249Q	Spinocerebellar ataxia 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00568427524921	.	0.000199681	0.0003	0	0	0	0	0	0	0.0031	2.59e-05	4	154602	rs549207242	6.47e-05	6.841e-05	4.588e-05	8.465e-05	0.0010	5.352e-05	4.93e-05	0.0008	0.0007	0	4.091e-05	0	5.768e-05	2.31e-05	0	7.721e-06	0.0001	0.0010	4.598e-05	4.593e-05	7.71e-05	1.343e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	4.812e-05	0	0	0	0	0	0	1.471e-05	0	0.0008	0.85	0.03117	T	0.47	0.12246	T	0.009	0.15093	B	0.001	0.04355	B	0.327479	0.04111	N	1.556400	1	0.08975	N	0.9	0.23182	L	.	.	.	-0.13	0.09135	N	0.063	0.06322	-0.9558	0.39952	T	0.048	0.20395	T	9	0.0047602654	0.00101	T	0.005684	0.14712	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.0859665364413383	0.08530	.	.	0.326242804527	0.14366	T	0.004767	0.04184	T	-0.666838	0.00057	T	-0.743873	0.03729	T	0.00780670281434764	0.00091	T	0.642936	0.25461	T	0.018478103	0.00369	0.03240779	0.01971	0.018478103	0.00369	0.03240779	0.01970	-3.211	0.15218	T	.	.	0.069	0.03128	B	.;.	.;.	0.089501	0.04936	1.508	0.57507209266368542	0.05784	0.03767	0.09080	N	AEFDBHCI	0.044699	0.07225	N	-1.74033429142936	0.00708	0.03057508	-1.76316699515044	0.00884	0.03953681	0.999999866484349	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.44	-4.85	0.02911	-0.374000	0.07541	-0.699000	0.07803	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7531:0.0:0.2469:0.0	12.099	0.53072	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	758.33	34	chr16	66480891	.	G	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.2;SOR=0.647	GT:AD:DP:GQ:PL	0/0:43,0:43:95:0,95,1251	18	0	1	0
chr16	66549940	66549940	G	T	exonic	TK2	.	nonsynonymous SNV	TK2:NM_001172644:exon1:c.C122A:p.P41H,TK2:NM_001172645:exon1:c.C122A:p.P41H,TK2:NM_004614:exon1:c.C122A:p.P41H	Mitochondrial DNA depletion syndrome 2 (myopathic type), Autosomal recessive	25	1487	10	0	0	10	0.00335121	0	0.086	YES	211735	not_provided|Mitochondrial_DNA_depletion_syndrome,_myopathic_form|TK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0012301,MedGen:C3149750,OMIM:609560,Orphanet:254875|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	.	0.0008	0.000599042	0.0018	0	0.0066	0	0	0.0015	0.0185	0.0015	0.0006015	93	154602	rs201904720	0.0007	0.0007	0.0007	0.0007	0.0063	0.0007	0.0006	0.0042	0.0035	0.0004	0.0008	0.0109	0	0	0.0063	0.0005	0.0020	0.0005	0.0008	0.0009	0.0008	0.0009	0.0014	0.0007	0.0007	0.0010	0.0008	0.0002	0	0.0014	0.0101	0	0	0.0103	0.0009	0.0005	0.0006	0.005	0.63226	D	0.133	0.43721	T	0.553	0.38185	P	0.204	0.37039	B	0.000017	0.00162	N	28.589000	0.99994	0.51968	D	2.415	0.69758	M	-5.43	0.99092	D	-0.59	0.37375	N	0.252	0.42639	0.444	0.89738	D	0.906	0.96899	D	10	0.0077205896	0.00175	T	.	.	.	0.371	0.69016	.	.	0.923809900003	0.92303	0.4591722704907691	0.45835	0.635896179863	0.57386	0.582099556923	0.50381	T	0.386237	0.74745	T	-0.147567	0.28693	T	0.0122026	0.71124	D	0.0506846017660106	0.05619	T	0.683132	0.30590	T	0.12949853	0.30243	0.13005643	0.31258	0.12949853	0.30243	0.13005643	0.31257	-5.299	0.40765	T	.	.	0.093	0.16231	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.956663	0.13331	9.833	0.99049440295684388	0.51207	0.16599	0.19463	N	AEFDBHCIJ	0.107403	0.21399	N	-0.613106937451548	0.18549	0.9639462	-0.765595603853664	0.15340	0.8062798	0.999999999999254	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.23	-0.0437	0.13187	0.160000	0.16278	0.096000	0.14582	-0.169000	0.11342	0.190000	0.24188	0.082000	0.22400	0.006000	0.07323	0.1231:0.3822:0.4947:0.0	5.534	0.16287	298	0.88068	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006472	0.010870	0.007022	0.014493	0.000000	0.000000	0.000000	0.007576	0.02632	273.33	14	chr16	66549940	.	G	T	273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=564;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=1.05;SOR=0.787	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1159	18	0	1	0
chr16	66579693	66579734	AGGACGGTAAGGAGCCATCGGACAAACCTCAAAAGGCGGTGC	-	exonic	CMTM2	.	nonframeshift deletion	CMTM2:NM_001199317:exon1:c.86_127del:p.G31_D44del,CMTM2:NM_144673:exon1:c.86_127del:p.G31_D44del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.143e-05	0	0	0	0	6.037e-05	0	6.061e-05	3.84e-05	1	26028	rs778363435	2.463e-05	2.463e-05	1.634e-05	3.3e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	0	0	0	0	0	0.0014	1.529e-05	0.0001	4.637e-05	3.947e-05	3.942e-05	3.861e-05	4.036e-05	0.0004	1.717e-05	1.13e-05	7.301e-05	3.033e-05	2.418e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2275.29	33	chr16	66579692	.	AAGGACGGTAAGGAGCCATCGGACAAACCTCAAAAGGCGGTGC	A	2275.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=920;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.49;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1010	13	0	5	1
chr16	66885147	66885147	G	A	exonic	PDP2	.	nonsynonymous SNV	PDP2:NM_001329929:exon2:c.G863A:p.R288Q,PDP2:NM_001329930:exon2:c.G863A:p.R288Q,PDP2:NM_001329931:exon2:c.G863A:p.R288Q,PDP2:NM_001329934:exon2:c.G863A:p.R288Q,PDP2:NM_020786:exon2:c.G863A:p.R288Q,PDP2:NM_001329928:exon3:c.G863A:p.R288Q,PDP2:NM_001329932:exon3:c.G863A:p.R288Q,PDP2:NM_001329933:exon3:c.G863A:p.R288Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.0274517078286	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.058e-05	1.29e-05	2	154602	rs778015440	2.737e-06	2.736e-06	1.361e-06	4.126e-06	2.987e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	1.159e-05	2.629e-05	2.627e-05	3.854e-05	1.346e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.176	0.22312	T	0.277	0.21880	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.86	0.83026	M	2.36	0.16089	T	-1.89	0.44094	N	0.912	0.91391	-0.6646	0.62072	T	0.188	0.53856	T	10	0.9357258	0.92904	D	0.027452	0.50258	D	0.548	0.81252	0.865	0.96050	0.837832381162	0.83628	0.9100995334566319	0.90983	0.966802065496	0.73216	0.571625947952	0.48908	T	0.124504	0.44958	T	0.154638	0.69701	D	0.0812049	0.75660	D	0.803946760138026	0.46623	D	0.99685	0.98806	D	0.24423504	0.47370	0.2672928	0.52585	0.24423504	0.47370	0.2672928	0.52584	-10.235	0.75306	D	.	.	0.170	0.37274	B	.	.	5.531788	0.91880	32	0.99951863260928964	0.99951	0.99813	0.99634	D	AEFBI	0.895667	0.83592	D	1.03486540745002	0.96719	15.053	0.981839493055587	0.98244	17.77256	1.0	0.98316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	10.003000	0.99689	10.024000	0.83146	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.027	0.97526	87	0.96348	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1798.33	38	chr16	66885147	.	G	A	1798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=827;ExcessHet=0;FS=1.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.795;SOR=0.541	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	18	0	1	0
chr16	66911953	66911953	G	T	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon12:c.C1445A:p.A482D,CDH16:NM_001204744:exon13:c.C1736A:p.A579D,CDH16:NM_001204745:exon13:c.C1736A:p.A579D,CDH16:NM_004062:exon13:c.C1736A:p.A579D	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.127586401688	.	.	1.663e-05	0	0	0	0	3.016e-05	0	0	1.29e-05	2	154602	rs762340674	2.053e-05	2.052e-05	1.906e-05	2.202e-05	0.0002	1.457e-05	1.264e-05	1.747e-05	1.504e-05	0	0	0	0	0	0.0002	2.519e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.51248	D	0.027	0.56192	D	0.959	0.55135	D	0.714	0.54635	P	0.000463	0.44119	D	0.195299	0.998882	0.45620	D	2.565	0.75005	M	0.41	0.62183	T	-2.37	0.52776	N	0.667	0.74918	-0.3506	0.73536	T	0.339	0.70551	T	10	0.7501637	0.75578	D	0.127586	0.80941	D	0.207	0.49555	0.374	0.38667	0.858164006489	0.85679	0.38585857428535286	0.38500	0.401367864666	0.41119	0.378933727741	0.22105	T	0.21129	0.57202	T	0.0108363	0.53139	T	-0.158565	0.58480	T	0.916222095489502	0.57356	D	0.886711	0.61387	D	0.28362486	0.51394	0.42935845	0.66620	0.28362486	0.51394	0.42935845	0.66620	-6.567	0.53004	T	.	.	0.168	0.43325	B	.;.;.;.;.	.;.;.;.;.	2.481849	0.32005	18.91	0.99175455068218432	0.54527	0.91813	0.54318	D	AEFDBI	0.361295	0.45096	N	0.356390898531436	0.59077	4.084369	0.326878373329968	0.57124	3.877197	0.99996014352243	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	3.596000	0.53770	6.650000	0.56213	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	15.248	0.73212	109	0.95526	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	35	chr16	66911953	.	G	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.424;DP=710;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.524;SOR=0.409	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1242	18	0	1	0
chr16	66964467	66964467	C	T	exonic	CES3	.	nonsynonymous SNV	CES3:NM_001185177:exon5:c.C671T:p.T224I,CES3:NM_024922:exon5:c.C671T:p.T224I	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.742	0.00992272925562	0.0041	0.000599042	0.0027	0.0009	0.0011	0	0.0047	0.0040	0.0022	0.0002	0.0026714	413	154602	rs113184828	0.0043	0.0043	0.0045	0.0042	0.0053	0.0043	0.0042	0.0051	0.0051	0.0005	0.0011	0.0002	0	0.0037	0.0007	0.0053	0.0036	0.0003	0.0024	0.0024	0.0026	0.0021	0.0040	0.0022	0.0021	0.0036	0.0035	0.0007	0	0.0002	0	0	0.0044	0	0.0040	0.0024	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000615	0.42945	D	0.000000	0.999959	0.52396	D	4.12	0.97420	H	-1.25	0.79072	T	-5.87	0.88630	D	0.879	0.89131	0.729	0.93531	D	0.702	0.89749	D	10	0.13130686	0.24989	T	0.009923	0.25833	T	0.742	0.91069	.	.	0.842161495492	0.84064	0.9189681071930712	0.91872	0.626001001242	0.56752	0.641527831554	0.58782	T	0.820148	0.95594	D	-0.0462863	0.45009	T	0.160729	0.80852	D	0.156912729144096	0.17640	T	0.947605	0.81197	D	0.6848249	0.77230	0.7115467	0.82983	0.6848249	0.77231	0.7115467	0.82984	-11.052	0.79942	D	.	.	0.883	0.81653	P	.;.	.;.	3.515009	0.49240	22.7	0.99886004712495136	0.96126	0.98091	0.79521	D	AEFDGBI	0.586765	0.58468	D	0.802261972650816	0.86246	8.824457	0.613716327232642	0.75937	6.39941	0.999999997284221	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.530356	0.10902	0	.	.	3.98	3.98	0.45383	5.500000	0.66660	4.274000	0.42857	0.598000	0.34611	1.000000	0.71638	0.999000	0.35428	0.104000	0.18471	0.0:1.0:0.0:0.0	15.155	0.72410	150	0.94078	Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1604.33	42	chr16	66964467	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.796;DP=763;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.368;SOR=0.678	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1309	18	0	1	0
chr16	67155405	67155405	C	T	exonic	TRADD	.	nonsynonymous SNV	TRADD:NM_001323552:exon3:c.G401A:p.R134H,TRADD:NM_003789:exon3:c.G401A:p.R134H	.	421	1097	4	0	0	4	0.00181984	.	.	.	3924587	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00850278959588	.	.	7.937e-05	0	9.575e-05	0	0	3.63e-05	0.0028	0.0002	5.17e-05	8	154602	rs753417792	4.149e-05	4.173e-05	3.58e-05	4.722e-05	0.0007	3.28e-05	2.951e-05	0.0002	0.0002	0	2.238e-05	0	0	0	0.0007	2.519e-05	6.648e-05	0.0003	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.879e-05	0	0.0002	0.359	0.11957	T	0.326	0.18789	T	0.011	0.15914	B	0.006	0.12133	B	0.014978	0.28378	N	0.399244	0.972865	0.39588	D	1.26	0.31868	L	.	.	.	-1.14	0.29323	N	0.212	0.23632	-0.9830	0.34305	T	0.149	0.47487	T	9	0.16464946	0.30796	T	0.008503	0.22482	T	0.156	0.40720	0.592	0.72123	0.182106788282	0.17826	0.3824081727453987	0.38155	0.937084714361	0.72070	0.451850563288	0.32197	T	0.150347	0.48978	T	-0.406868	0.02086	T	-0.520493	0.20245	T	0.0645001381635666	0.07857	T	0.822218	0.48193	T	0.18261711	0.39489	0.08297049	0.18977	0.18261711	0.39488	0.08297049	0.18976	-4.998	0.36819	T	.	.	0.084	0.14339	B	.;.	.;.	2.495423	0.32200	18.97	0.95483445206706841	0.27049	0.15518	0.18951	N	ALL	0.266057	0.38305	N	-0.585219525273841	0.19392	1.014596	-0.475037799842557	0.22844	1.242806	1.0	0.98316	0.72623	0.87236	0	0.594344	0.48745	0	0.503968	0.08637	0	0.71	0.69187	0	.	.	5.49	3.56	0.39892	0.762000	0.26168	0.443000	0.18445	-0.202000	0.08738	0.945000	0.32849	0.866000	0.27540	0.217000	0.22379	0.0:0.7601:0.0:0.2399	8.461	0.32089	48	0.97687	TRADD, N-terminal|TRADD, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05263	5038.83	33	chr16	67155405	.	C	T	5038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.85;DP=1039;ExcessHet=0.119;FS=1.766;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.821;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	17	0	2	0
chr16	67188925	67188925	A	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon4:c.T223A:p.Y75N	.	419	1102	1	0	0	1	0.000453515	.	.	.	2808027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.295	.	0.0051	0.00219649	0.0070	0.0006	0.0021	0	0.0281	0.0087	0.0126	0.0023	0.0064165	992	154602	rs117403380	0.0070	0.0070	0.0069	0.0071	0.0071	0.0069	0.0068	0.0070	0.0069	0.0010	0.0030	0.0016	5.038e-05	0.0297	0.0007	0.0071	0.0054	0.0024	0.0068	0.0068	0.0060	0.0077	0.0087	0.0065	0.0063	0.0081	0.0079	0.0006	0.0022	0.0053	0.0017	0	0.0281	0.0102	0.0087	0.0080	0.0033	0.088	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	3.02	0.16089	T	-1.73	0.45769	N	0.851	0.84713	-1.0661	0.10293	T	0.087	0.33774	T	10	0.009964436	0.00223	T	.	.	.	0.295	0.61502	.	.	0.70904498819	0.70650	0.5359754917450498	0.53522	0.395847736703	0.40711	0.724603116512	0.70718	T	0.089854	0.38462	T	-0.26484	0.12338	T	-0.145952	0.59600	T	0.0476183086248913	0.05076	T	0.864914	0.75597	D	0.24159034	0.47076	0.18777151	0.42028	0.24159034	0.47076	0.18777151	0.42027	-9.564	0.71257	D	.	.	0.472	0.70540	A	.;.;.;.	.;.;.;.	4.476800	0.69809	25.4	0.97721304573646861	0.35561	0.98969	0.89329	D	AEFBI	0.910607	0.86873	D	0.731966278753647	0.81729	7.59064	0.721110749455357	0.83984	8.166763	0.999999999390469	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	4.029000	0.56964	5.425000	0.48576	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.065	0.71656	41	0.97903	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1492.33	35	chr16	67188925	.	A	T	1492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.431;DP=794;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.565;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr16	67189100	67189100	G	A	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C127T:p.R43W	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0010	0.00179712	0.0026	0.0001	0.0004	0	0.0002	0.0017	0.0045	0.0104	0.0019663	304	154602	rs138207138	0.0017	0.0017	0.0014	0.0020	0.0095	0.0016	0.0016	0.0090	0.0088	0.0003	0.0004	0.0007	5.052e-05	0.0001	0.0045	0.0013	0.0017	0.0095	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0012	0.0092	0.0083	0.0002	0.0373	0.0010	0.0006	0	9.427e-05	0	0.0013	0.0019	0.0116	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.828	0.68658	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	2.39	0.35031	T	-5.91	0.93135	D	0.577	0.59901	-0.6314	0.63511	T	0.209	0.56798	T	10	0.007327825	0.00167	T	.	.	.	0.261	0.57352	.	.	0.662692292153	0.65986	0.589916096667484	0.58921	0.325835097121	0.34731	0.388623774052	0.23475	T	0.260308	0.63166	T	-0.279259	0.10745	T	-0.166521	0.57760	T	0.0883487671110309	0.11020	T	0.89781	0.82322	D	0.72637236	0.79519	0.63070565	0.78457	0.72637236	0.79521	0.63070565	0.78458	-9.787	0.72626	D	.	.	0.131	0.55257	B	.;.;.;.	.;.;.;.	4.903343	0.80616	27.4	0.99912105370551108	0.98095	0.91342	0.53340	D	AEFDBI	0.874708	0.79772	D	0.464599842962669	0.65036	4.772212	0.388537297373506	0.60859	4.278235	0.99999724083156	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.25	3.18	0.35615	1.917000	0.39626	5.649000	0.49176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7154:0.2846	13.336	0.59958	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.000000	0.004087	0.005848	0.050000	0.008621	0.003086	0.018939	0.05263	1177.83	35	chr16	67189100	.	G	A	1177.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=689;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.04;SOR=0.726	GT:AD:DP:GQ:PL	0/1:24,25:49:99:634,0,600	17	0	2	0
chr16	67193474	67193474	T	C	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon4:c.T410C:p.L137S	.	429	1083	9	1	0	11	0.00505282	0.4131	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00950207212434	.	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0005	0.0001358	21	154602	rs202020885	0.0001	0.0001	8.712e-05	0.0001	0.0014	9.333e-05	8.817e-05	0.0007	0.0005	8.961e-05	0.0003	0.0007	0	0	0.0014	4.586e-05	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.098	0.30800	T	0.206	0.27056	T	0.917	0.50750	P	0.421	0.45113	B	0.336219	0.14035	N	0.703399	0.999231	0.46406	D	2.27	0.64531	M	2.08	0.20255	T	-2.53	0.54864	D	0.687	0.69300	-1.1134	0.02793	T	0.053	0.22655	T	10	0.19820952	0.35782	T	0.009502	0.24878	T	0.189	0.46613	.	.	0.591791014774	0.58856	0.5366381676944586	0.53588	0.285334489928	0.30943	0.730908751488	0.71639	T	0.235799	0.60314	T	-0.32195	0.06739	T	-0.336072	0.40790	T	0.165641661766972	0.18279	T	0.672333	0.28093	T	0.37023276	0.58602	0.26471442	0.52295	0.37023276	0.58603	0.26471442	0.52294	-11.386	0.81732	D	.	.	0.576	0.67894	P	.	.	5.492211	0.91494	32	0.94090689682085182	0.24246	0.90731	0.52154	D	AEFBCI	0.662610	0.63242	D	0.371654984131442	0.59891	4.172489	0.393942220486383	0.61191	4.315774	0.99999754418992	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.81	3.72	0.41857	5.673000	0.67781	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.813	0.34137	39	0.97975	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4728.83	264	chr16	67193474	.	T	C	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1095;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.29;SOR=0.792	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1427	17	0	2	0
chr16	67195787	67195787	G	A	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon7:c.G814A:p.G272S	.	395	1126	1	0	0	1	0.000443853	.	.	.	2298788	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.337	0.0366200009626	.	.	8.274e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs758224346	5.473e-06	5.472e-06	2.723e-06	8.251e-06	9.275e-05	2.35e-06	1.7e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.399	0.10517	T	0.832	0.03695	T	0.001	0.07471	B	0.003	0.08700	B	0.892611	0.07305	N	1.055090	0.999954	0.19072	N	0.41	0.12415	N	-2.16	0.86549	D	0.32	0.03955	N	0.184	0.19995	-0.8126	0.54393	T	0.326	0.69418	T	10	0.04124099	0.02761	T	0.03662	0.57104	D	0.337	0.65913	0.111	0.02112	0.582733548269	0.57945	0.24335775497765746	0.24249	0.182812000047	0.20551	0.289771199226	0.08889	T	0.105124	0.41532	T	-0.175483	0.24411	T	-0.253177	0.49503	T	0.0228969615410298	0.01011	T	0.709329	0.31993	T	0.052166075	0.09688	0.053879533	0.09161	0.052166075	0.09688	0.053879533	0.09161	-2.632	0.06750	T	.	.	0.068	0.02797	B	.	.	0.810908	0.11816	8.388	0.99535162027902102	0.70150	0.22260	0.21686	N	AEFDBHCI	0.107203	0.21366	N	-0.967082803828445	0.09313	0.4402544	-0.856715733833553	0.13126	0.6792312	0.999970093566556	0.50053	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.03	1.96	0.25203	-0.230000	0.09093	2.834000	0.35039	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.918000	0.45347	0.2685:0.0:0.7315:0.0	7.903	0.28907	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	41	chr16	67195787	.	G	A	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.716;DP=745;ExcessHet=0;FS=8.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.946;SOR=0.224	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr16	67195891	67195911	CAGCAGCAGCAGCAGCAGCAG	-	exonic	E2F4	.	nonframeshift deletion	E2F4:NM_001950:exon7:c.918_938del:p.S313_S319del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248478162	0.0002	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0015	0.0002	0.0007	0.0001	1.885e-05	0.0002	0.0002	0.0001	0.0003	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0004	0.0010	0.0009	0.0012	0	0.0001	0.0003	0	9.747e-05	0	0.0002	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5895.51	41	chr16	67195890	.	ACAGCAGCAGCAGCAGCAGCAG	A	5895.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=2257;ExcessHet=8.9063;FS=1.433;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-0.418;SOR=0.646	GT:AD:DP:GQ:PL	0/0:118,0:140:99:503,858,5404	18	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	189.21	104	chr16	67228398	.	C	G	189.21	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.185;DP=1274;ExcessHet=0.3672;FS=205.476;InbreedingCoeff=-0.1308;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.49;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,23:100:99:0|1:67228398_C_G:188,0,2352:67228398	13	0	3	3
chr16	67230180	67230180	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon20:c.G3100T:p.V1034F,FHOD1:NM_001318202:exon22:c.G3178T:p.V1060F	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.014377	0.0097	0.0007	0.0006	0.0017	0	1.501e-05	0.0055	0.0686	0.0082664	1278	154602	rs146514223	0.0039	0.0039	0.0022	0.0056	0.0622	0.0038	0.0038	0.0608	0.0602	0.0003	8.944e-05	3.826e-05	0.0016	0	0.0017	2.878e-05	0.0044	0.0622	0.0021	0.0021	0.0011	0.0032	0.0578	0.0019	0.0019	0.0522	0.0500	0.0004	0	0.0003	0	0.0035	0	0	1.47e-05	0.0024	0.0578	0.126	0.27194	T	0.283	0.21478	T	0.542	0.37927	P	0.22	0.37792	B	0.101882	0.19818	N	0.542263	0.964308	0.39981	D	2.52	0.73523	M	1.22	0.37052	T	-1.45	0.35597	N	0.405	0.44570	-1.0654	0.10456	T	0.081	0.32119	T	10	0.0030546486	0.00050	T	.	.	.	0.049	0.13647	.	.	0.647617134539	0.64469	0.2737673664105686	0.27289	0.364620806895	0.38079	0.469140261412	0.34561	T	0.038751	0.24948	T	-0.47986	0.00740	T	-0.412595	0.31926	T	0.00336669596313559	0.00035	T	0.678032	0.28700	T	0.09554652	0.22489	0.0645615	0.12958	0.09554652	0.22489	0.0645615	0.12957	-5.17	0.38635	T	.	.	0.102	0.18080	B	.	.	2.729566	0.35726	19.97	0.98811672444758258	0.46623	0.97873	0.77771	D	AEFGBCI	0.424698	0.48976	N	-0.0940516455453432	0.37654	2.193736	-0.0723755983642936	0.36536	2.127577	0.999984130125693	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.33	2.26	0.27418	0.700000	0.25278	-0.056000	0.12484	0.599000	0.40250	0.868000	0.30757	0.063000	0.22074	0.773000	0.36634	0.0:0.7242:0.0:0.2758	7.254	0.25343	25	0.98345	Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.030303	0.02632	2440.33	34	chr16	67230180	.	C	A	2440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.291;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr16	67234422	67234422	G	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon12:c.C1370T:p.A457V,FHOD1:NM_001318202:exon14:c.C1448T:p.A483V	.	425	1095	2	0	0	2	0.000912409	.	.	.	2758893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.0142490413683	.	.	7.744e-05	0	0	0.0009	0	0	0	7.362e-05	4.53e-05	7	154602	rs761027309	1.648e-05	2.052e-05	1.23e-05	2.071e-05	0.0002	1.115e-05	9.37e-06	0.0001	8.799e-05	2.995e-05	0	0	0.0002	0	0	7.201e-06	0	6.988e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.198	0.27767	T	0.033	0.20350	B	0.005	0.11217	B	0.297720	0.14654	N	0.652496	0.972655	0.81001	D	1.3	0.32576	L	1.59	0.28836	T	-1.9	0.44284	N	0.187	0.20395	-1.1046	0.03578	T	0.051	0.21844	T	10	0.07249811	0.10829	T	0.014249	0.34240	T	0.029	0.06676	0.405	0.43738	0.540107908424	0.53663	0.3973447049394745	0.39649	0.206165029416	0.23039	0.413946419954	0.27002	T	0.062619	0.31963	T	-0.433496	0.01412	T	-0.515525	0.20750	T	0.0559468306601048	0.06514	T	0.677732	0.28664	T	0.052508757	0.09804	0.07346318	0.15966	0.052508757	0.09804	0.07346318	0.15966	-4.736	0.33836	T	.	.	0.091	0.13080	B	.	.	2.334327	0.29904	18.27	0.99815832714435981	0.89885	0.82447	0.41673	D	AEFDBHCI	0.179576	0.30687	N	-0.292260484433579	0.29447	1.633001	-0.126466117014227	0.34326	1.973309	0.999385581360282	0.39415	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.18	4.23	0.49319	2.558000	0.45541	2.341000	0.32254	0.662000	0.56354	0.996000	0.39380	0.996000	0.32793	0.976000	0.56436	0.0902:0.0:0.9098:0.0	10.560	0.44329	25	0.98345	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	34	chr16	67234422	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.516;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.575;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	18	0	1	0
chr16	67280076	67280076	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.C32T:p.S11F,PLEKHG4:NM_001129728:exon2:c.C32T:p.S11F,PLEKHG4:NM_001129729:exon2:c.C32T:p.S11F,PLEKHG4:NM_001129727:exon3:c.C32T:p.S11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00571155566016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255719107	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.92824	D	0.971	0.57185	D	0.641	0.52117	P	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.62	0.16351	T	-1.46	0.71519	N	0.096	0.16725	-1.0736	0.08639	T	0.060	0.24981	T	9	0.08909717	0.15401	T	0.005712	0.14802	T	0.060	0.17295	0.168	0.07302	0.289847578895	0.28608	0.14821389820721237	0.14743	0.61667274864	0.56125	0.376740634441	0.21794	T	0.031201	0.35582	T	-0.29783	0.08866	T	-0.568734	0.15565	T	0.228057539687042	0.21859	T	0.70223	0.31713	T	0.12107545	0.28478	0.1351425	0.32364	0.12107545	0.28477	0.1351425	0.32363	-5.357	0.40504	T	.	.	0.101	0.29255	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.982161	0.39788	21.0	0.99702309156501712	0.80729	0.12202	0.17123	N	AEFDBCI	0.060110	0.11401	N	-0.40228923517836	0.25390	1.377844	-0.457376521992897	0.23340	1.272291	0.999993786511118	0.74766	0.660085	0.49399	0	0.851559	0.99867	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	4.22	3.27	0.36580	0.510000	0.22430	1.323000	0.25616	-0.186000	0.09761	0.001000	0.13787	0.001000	0.17328	0.968000	0.53726	0.0:0.8866:0.0:0.1134	7.836	0.28533	23	0.98420	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	356.33	35	chr16	67280076	.	C	T	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.034;DP=649;ExcessHet=0;FS=1.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.28;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr16	67287984	67287984	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon17:c.C2947T:p.R983C,PLEKHG4:NM_001129728:exon19:c.C3190T:p.R1064C,PLEKHG4:NM_001129729:exon19:c.C3190T:p.R1064C,PLEKHG4:NM_001129727:exon20:c.C3190T:p.R1064C	.	1	1514	7	0	0	7	0.00230643	.	.	.	4048586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.177298958031	0.0002	0.000798722	0.0004	0	0.0010	0	0	0.0006	0.0011	0.0001	0.0003687	57	154602	rs145404113	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	8.964e-05	0.0012	0.0011	0	0	0.0042	0.0004	0.0006	0.0001	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0025	0.0006	0	9.429e-05	0.0034	0.0004	0.0028	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	1	0.81001	D	3.18	0.88827	M	1.51	0.30937	T	-7.26	0.94377	D	0.804	0.79986	-0.6037	0.64664	T	0.219	0.58201	T	9	0.066185415	0.09040	T	0.177299	0.85279	D	0.433	0.73879	.	.	0.545045102275	0.54158	0.6840392719055777	0.68342	1.08819762492	0.77359	0.581576406956	0.50308	T	0.542633	0.84367	D	-0.0695148	0.41406	T	0.0769296	0.75372	D	0.191548533716026	0.19936	T	0.963304	0.86656	D	0.64327705	0.75006	0.44955432	0.67961	0.64327705	0.75007	0.44955432	0.67961	-7.985	0.60968	D	.	.	0.267	0.64412	B	.;.;.;.;.	.;.;.;.;.	5.165811	0.86574	29.0	0.99929911111816982	0.99334	0.94041	0.59935	D	AEFDBI	0.693382	0.65273	D	0.615586410228669	0.74160	6.085682	0.539783995472921	0.70691	5.542343	0.999993004459866	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.05	5.05	0.67566	2.747000	0.47151	6.018000	0.52751	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	15.570	0.76071	23	0.98420	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1846.33	34	chr16	67287984	.	C	T	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=784;ExcessHet=0;FS=3.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.056;SOR=0.474	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	18	0	1	0
chr16	67293886	67293886	C	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon12:c.G1876A:p.D626N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0238668834355	.	.	8.401e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	.	6.849e-07	6.842e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.799	0.44910	P	0.205	0.37080	B	0.000901	0.41128	D	0.107273	0.710258	0.30020	N	0.805	0.20218	L	-0.05	0.63403	T	-0.9	0.24244	N	0.193	0.21188	-0.7220	0.59364	T	0.137	0.45260	T	10	0.19941023	0.35949	T	0.023867	0.46847	T	0.109	0.30843	0.19	0.10039	0.824481828275	0.82282	0.21494374546192774	0.21410	0.272956107409	0.29804	0.441002935171	0.30714	T	0.014901	0.12601	T	-0.174365	0.24579	T	-0.48824	0.23576	T	0.701426923274994	0.40787	D	0.814619	0.46840	T	0.2177227	0.44263	0.15890536	0.37086	0.2177227	0.44263	0.15890536	0.37085	-4.089	0.25128	T	.	.	0.112	0.22098	B	.	.	3.111687	0.41976	21.5	0.99892865249898022	0.96666	0.81865	0.41185	D	AEFBI	0.593767	0.58896	D	0.23160323342647	0.52736	3.445967	0.337127820608552	0.57736	3.940469	0.999931573471592	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	5.63	4.63	0.57175	2.979000	0.49004	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1675:0.8324:0.0:0.0	12.430	0.54905	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4728.83	33	chr16	67293886	.	C	T	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.317;DP=976;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.352;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	17	0	2	0
chr16	67301868	67301868	T	A	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon5:c.A698T:p.D233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0329379048541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.000290	0.46274	D	0.152859	0.999942	0.51968	D	1.04	0.26193	L	-0.05	0.63403	T	-1.46	0.35792	N	0.873	0.87049	-0.5535	0.66653	T	0.261	0.63219	T	10	0.7813989	0.77884	D	0.032938	0.54627	D	0.318	0.64008	0.385	0.40460	0.829068798349	0.82745	0.8639013896984344	0.86354	1.15178904518	0.79224	0.637068748474	0.58148	T	0.07885	0.35989	T	0.282103	0.81496	D	0.167445	0.81257	D	0.942141473293304	0.61605	D	0.860114	0.55285	D	0.23198014	0.45978	0.24370831	0.49820	0.23198014	0.45978	0.24370831	0.49819	-7.141	0.55057	T	.	.	0.355	0.56882	A	.	.	4.662548	0.74439	26.2	0.99354237115391519	0.60738	0.84449	0.43531	D	AEFDBI	0.383297	0.46485	N	0.515540761146906	0.68008	5.158443	0.563617590549699	0.72351	5.796061	0.999996307154268	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.17	5.02	0.66742	3.279000	0.51374	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1561:0.8439	10.966	0.46627	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	994.33	34	chr16	67301868	.	T	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=719;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.37;SOR=0.956	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	18	0	1	0
chr16	67391032	67391032	C	G	exonic	TPPP3	.	nonsynonymous SNV	TPPP3:NM_015964:exon2:c.G80C:p.G27A,TPPP3:NM_016140:exon3:c.G80C:p.G27A	.	.	.	.	.	.	.	.	.	.	.	3928371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0175555925362	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0012	0.0001423	22	154602	rs374128583	8.345e-05	8.345e-05	5.173e-05	0.0001	0.0012	7.136e-05	6.684e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0.0002	1.079e-05	8.279e-05	0.0012	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0373	0.0001	0	0	0	0	4.41e-05	0	0.0014	0.217	0.19157	T	0.307	0.19908	T	0.92	0.51019	P	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	0.97	0.42502	T	-2.68	0.57275	D	0.774	0.77132	-0.7094	0.59982	T	0.258	0.62856	T	10	0.016255498	0.00342	T	0.017556	0.39307	T	0.225	0.52323	.	.	0.694760578824	0.69213	0.692613586177605	0.69201	1.20030349719	0.80521	0.683516919613	0.64774	T	0.162504	0.50720	T	-0.237366	0.15686	T	-0.159288	0.58416	T	0.314158111810684	0.25584	T	0.930207	0.74183	D	0.4088852	0.61342	0.35810456	0.61293	0.4088852	0.61343	0.35810456	0.61292	-7.235	0.55732	T	.	.	0.593	0.68582	P	.;.;.;.	.;.;.;.	4.674650	0.74743	26.2	0.99769667756163649	0.85750	0.99124	0.91578	D	AEFDGBI	0.971139	0.99327	D	0.712171588351429	0.80429	7.292512	0.695722111608981	0.82053	7.672894	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.626000	0.62520	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.530	0.87709	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3419.83	34	chr16	67391032	.	C	G	3419.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.13;DP=903;ExcessHet=0.119;FS=0.436;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.504;SOR=0.745	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1698,0,1828	17	0	2	0
chr16	67431366	67431366	C	G	exonic	HSD11B2	.	nonsynonymous SNV	HSD11B2:NM_000196:exon1:c.C118G:p.L40V	Apparent mineralocorticoid excess, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.982716923525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.318	0.19246	T	0.384	0.34453	B	0.125	0.32635	B	0.067861	0.21713	U	0.418027	0.949677	0.26529	N	0	0.06538	N	-1.69	0.82985	D	-0.58	0.17417	N	0.293	0.33140	-0.8280	0.53429	T	0.252	0.62178	T	10	0.28452384	0.46034	T	0.982717	0.99914	D	0.146	0.38789	0.339	0.32979	0.782681097998	0.78067	0.26467465531720435	0.26380	1.4404443071	0.85963	0.903773903847	0.96847	D	0.270269	0.64252	T	-0.0547541	0.43723	T	-0.316427	0.42965	T	0.205082380312755	0.20693	T	0.570643	0.20320	T	0.07538038	0.16979	0.114544965	0.27649	0.07538038	0.16979	0.114544965	0.27648	-4.992	0.36753	T	.	.	0.086	0.10931	B	.	.	2.754207	0.36112	20.2	0.99015029847380531	0.50441	0.32784	0.24670	N	ALL	0.074762	0.14994	N	-0.486936273179665	0.22508	1.202339	-0.374222927702064	0.25768	1.419107	0.999999999999975	0.74766	0.437478	0.07067	0	0.607795	0.50457	0	0.239995	0.05000	1	0.603991	0.37454	0	.	.	3.89	2.93	0.33092	0.014000	0.13228	2.977000	0.35823	-0.290000	0.06302	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	0.0:0.9018:0.0:0.0982	10.568	0.44375	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	112.68	4	chr16	67431366	.	C	G	112.68	.	AC=2;AF=0.077;AN=26;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.178;MLEAC=2;MLEAF=0.077;MQ=60;QD=28.17;SOR=1.609	GT:AD:DP:GQ:PL	./.:6,0:6:0:0,0,90	12	1	0	6
chr16	67657801	67657801	G	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon11:c.C1259G:p.P420R,ACD:NM_022914:exon11:c.C1250G:p.P417R	.	.	.	.	.	.	.	.	.	.	.	1827442	Inborn_genetic_diseases|Dyskeratosis_congenita,_autosomal_dominant_6	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0271871235519	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs750023370	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.892e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	0.969	0.60036	D	0.68	0.59562	P	0.376969	0.13444	N	0.680225	0.999938	0.19363	N	2.255	0.64187	M	.	.	.	.	.	.	0.438	0.47672	-1.0560	0.12776	T	0.112	0.40122	T	10	0.18436	0.33807	T	0.027187	0.50027	D	0.065	0.18881	0.427	0.47350	0.572173585829	0.56884	0.12097539796430509	0.12024	0.412054783873	0.41956	0.324243724346	0.14064	T	0.371108	0.73553	T	-0.130069	0.31485	T	-0.409125	0.32325	T	0.824330747127533	0.48096	D	0.733327	0.35462	T	0.11731527	0.27659	0.14104538	0.33602	0.11731527	0.27659	0.14104538	0.33601	.	.	.	0.7696368426926695	0.85074	0.150	0.43102	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249643	0.44396	21.9	0.99786898313531358	0.87308	0.19153	0.20548	N	AEFDGBCI	0.142833	0.26538	N	0.083603855078002	0.45698	2.822056	-0.00847773803459684	0.39330	2.330327	0.999966026223724	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.76	2.64	0.30504	1.365000	0.33786	3.553000	0.39056	0.618000	0.50648	0.022000	0.19841	0.930000	0.28522	0.984000	0.60418	0.1016:0.0:0.7176:0.1808	6.357	0.20611	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1339.33	41	chr16	67657801	.	G	C	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.236;DP=843;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.045;SOR=0.768	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr16	67658960	67658960	T	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon7:c.A613G:p.T205A,ACD:NM_022914:exon7:c.A604G:p.T202A	.	430	1088	3	1	0	5	0.00229253	.	.	.	530106	Dyskeratosis_congenita,_autosomal_dominant_6|ACD-related_disorder|not_provided|not_specified	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.11067431758	0.0010	0.000998403	0.0015	0.0002	0.0006	0	0	0.0015	0.0011	0.0042	0.0013777	213	154602	rs139438549	0.0012	0.0012	0.0011	0.0014	0.0044	0.0012	0.0012	0.0040	0.0039	0.0001	0.0007	0.0033	0	0	0.0024	0.0011	0.0012	0.0044	0.0011	0.0011	0.0010	0.0011	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0.0373	0.0010	0.0023	0	0	0	0.0011	0.0009	0.0044	.	.	.	0.014	0.62352	D	0.993	0.68779	D	0.978	0.78936	D	0.000104	0.50451	D	0.082287	0.999977	0.18612	N	2.25	0.63811	M	.	.	.	.	.	.	0.499	0.53620	-0.7753	0.56565	T	0.259	0.62999	T	10	0.004820019	0.00102	T	0.110674	0.78815	D	0.362	0.68230	.	.	0.846853498578	0.84538	0.6155730349153837	0.61489	0.450995672873	0.44860	0.410301268101	0.26498	T	0.724472	0.92239	D	-0.251301	0.13939	T	-0.133897	0.60642	T	0.0913144573569298	0.11373	T	0.728227	0.34274	T	0.67759454	0.76840	0.58441406	0.75902	0.8596595	0.88061	0.54078	0.73460	.	.	.	0.8377694817202448	0.90702	0.456	0.65780	A	.;.;.;.;.;.	.;.;.;.;.;.	3.822991	0.55215	23.6	0.99520996860738109	0.69222	0.67895	0.33599	D	AEFDGBCI	0.373121	0.45851	N	0.225927322891359	0.52458	3.419881	0.141210490154682	0.46678	2.909948	0.999999985881756	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	2.605000	0.45947	6.123000	0.53812	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.624000	0.32000	0.0:0.0:0.0:1.0	11.026	0.46963	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.007576	0.05263	4667.83	33	chr16	67658960	.	T	C	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.83;DP=1057;ExcessHet=0.119;FS=1.111;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.45;SOR=0.766	GT:AD:DP:GQ:PL	0/1:123,103:226:99:2533,0,3141	17	0	2	0
chr16	67660199	67660199	C	T	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon1:c.G22A:p.V8I,ACD:NM_022914:exon1:c.G22A:p.V8I	.	384	1125	12	1	0	14	0.00618375	.	.	.	429837	Dyskeratosis_congenita,_autosomal_dominant_6|not_provided|ACD-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	.	0.0007	0.000998403	0.0008	0.0006	0.0012	0	0	0.0010	0.0059	0.0005	0.000718	111	154602	rs149365469	0.0006	0.0006	0.0005	0.0006	0.0290	0.0005	0.0005	0.0254	0.0240	0.0007	0.0011	0.0020	0	0	0.0290	0.0004	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0018	0.0005	0.0005	0.0012	0.0011	0.0005	0	0.0018	0.0009	0	0	0.0374	0.0004	0.0028	0.0006	.	.	.	0.031	0.53788	D	0.355	0.33731	B	0.073	0.28123	B	0.053064	0.22840	N	0.313336	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.088	0.16028	-1.0467	0.15332	T	0.045	0.19194	T	10	0.009870857	0.00221	T	.	.	.	0.019	0.03383	.	.	0.146414634003	0.14194	0.09386438995845912	0.09318	0.139486507341	0.15724	0.479659438133	0.36009	T	0.229699	0.59558	T	-0.575093	0.00206	T	-0.649298	0.09002	T	0.0149048827742313	0.00317	T	0.672333	0.28093	T	0.12558973	0.29437	0.1416343	0.33721	0.17041984	0.37615	0.14991881	0.35377	.	.	.	0.3533138073722568	0.45034	0.138	0.35870	B	.;.;.;.;.;.	.;.;.;.;.;.	1.979646	0.25148	16.66	0.98905138345194532	0.48272	0.13423	0.17847	N	ALL	0.101833	0.20442	N	-0.641788692678365	0.17700	0.9130168	-0.68079355440786	0.17441	0.9274243	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.47	0.38831	0.057000	0.14157	2.200000	0.31279	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.185000	0.21450	0.0:0.8751:0.0:0.1249	7.470	0.26514	42	0.97857	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.030303	0.013624	0.061404	0.000000	0.043103	0.000000	0.003788	0.02632	1099.33	33	chr16	67660199	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.563;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.411;SOR=0.758	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr16	67842914	67842915	GC	-	exonic	THAP11	.	frameshift deletion	THAP11:NM_020457:exon1:c.360_361del:p.Q121Afs*118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.669e-05	0	8.864e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs1491433154	2.446e-05	3.954e-05	1.806e-05	3.093e-05	0.0002	1.776e-05	1.572e-05	0.0001	7.436e-05	0.0002	9.152e-05	3.964e-05	0	0	0	1.097e-05	1.696e-05	0.0001	5.741e-05	5.432e-05	8.413e-05	2.94e-05	0.0002	2.765e-05	2.08e-05	7.952e-05	5.396e-05	0.0002	0	6.919e-05	0	0	0	0	1.515e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1302.29	38	chr16	67842913	.	AGC	A	1302.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=745;ExcessHet=0;FS=4.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.977;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	18	0	1	0
chr16	67842917	67842923	GCAACAG	-	exonic	THAP11	.	frameshift deletion	THAP11:NM_020457:exon1:c.363_369del:p.Q121Hfs*42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.657e-05	0	8.851e-05	0	0	0	0	0.0001	3.84e-05	1	26028	rs747270195	2.379e-05	3.191e-05	1.669e-05	3.096e-05	0.0002	1.712e-05	1.511e-05	0.0001	7.452e-05	0.0002	9.161e-05	3.966e-05	0	0	0	1.006e-05	1.697e-05	0.0001	5.729e-05	5.43e-05	8.399e-05	2.932e-05	0.0002	2.76e-05	2.076e-05	7.912e-05	5.37e-05	0.0002	0	6.907e-05	0	0	0	0	1.515e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1299.29	38	chr16	67842916	.	AGCAACAG	A	1299.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.645;DP=747;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.858;SOR=1.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	18	0	1	0
chr16	67842920	67842920	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.366_367insCAG:p.Q132_S133insQ	.	.	.	.	.	.	.	.	.	.	.	1629246	THAP11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.0149	0.0027	0.0106	0.0012	0.0051	0.0028	0.0136	0.0001921	5	26028	rs751985625	0.0048	0.0048	0.0046	0.0050	0.0156	0.0047	0.0046	0.0144	0.0140	0.0156	0.0041	0.0043	0.0084	0.0007	0.0068	0.0038	0.0075	0.0118	0.0079	0.0079	0.0080	0.0078	0.0148	0.0075	0.0074	0.0138	0.0134	0.0148	0.0374	0.0060	0.0032	0.0115	0.0011	0	0.0043	0.0092	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15663.3	38	chr16	67842920	.	A	ACAG	15663.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.14;DP=1169;ExcessHet=1.7862;FS=0.549;InbreedingCoeff=-0.0523;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.938;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,29:58:99:.:.:1083,0,968:.	17	0	2	0
chr16	67842920	67842923	ACAG	0	exonic	THAP11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15663.3	38	chr16	67842920	.	ACAG	*	15663.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=1169;ExcessHet=1.7862;FS=0.549;InbreedingCoeff=-0.0523;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.938;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:58:99:.:.:1083,1188,2320:.	18	0	1	0
chr16	67930289	67930289	C	A	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon6:c.G529T:p.V177L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0796351252125	.	.	4.96e-05	0	0	0	0	1.505e-05	0	0.0003	3.88e-05	6	154602	rs776839938	2.258e-05	2.257e-05	1.089e-05	3.438e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	0	0	5.038e-05	0	0	2.698e-06	3.312e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.046	0.21875	B	0.1	0.30674	B	0.000098	0.51296	D	0.132931	0.987711	0.40637	D	0.45	0.12780	N	-3.28	0.93691	D	.	.	.	0.286	0.32370	-0.8744	0.50196	T	0.155	0.48550	T	9	0.41724035	0.56624	T	0.079635	0.73278	D	.	.	0.796	0.91657	0.953661715142	0.95316	0.6532149870829074	0.65257	0.168452941978	0.18995	0.356478512287	0.18872	T	0.241523	0.79175	T	-0.153251	0.27804	T	-0.161718	0.58196	T	0.29819530248642	0.24929	T	0.765923	0.39533	T	0.3179214	0.54463	0.2125719	0.45732	0.3179214	0.54463	0.2125719	0.45731	-8.92	0.67181	D	.	.	0.605	0.74047	P	.;.	.;.	1.762218	0.22416	15.61	0.99508650858093783	0.68499	0.68640	0.33879	D	AEFGBHCI	0.332058	0.43159	N	-0.23464200900563	0.31721	1.781528	-0.109343675580771	0.35013	2.02062	0.999959466700233	0.48110	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.77	4.81	0.61401	0.842000	0.27280	3.563000	0.39095	0.549000	0.26987	0.077000	0.22263	0.525000	0.25331	0.953000	0.50222	0.0:0.7928:0.1367:0.0704	10.266	0.42637	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	36	chr16	67930289	.	C	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=761;ExcessHet=0;FS=2.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.004;SOR=0.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr16	67939921	67939921	G	A	exonic	LCAT	.	nonsynonymous SNV	LCAT:NM_000229:exon6:c.C1306T:p.P436S	Fish-eye disease, Autosomal recessive;Norum disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.103509042525	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265237849	2.054e-06	2.052e-06	2.724e-06	1.376e-06	2.52e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	0	0	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.371	0.11514	T	0.055	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	0.028127	0.25649	U	0.265604	1	0.08975	N	1.085	0.27262	L	-3.98	0.96277	D	-0.41	0.14000	N	0.234	0.26354	-0.1222	0.79583	T	0.680	0.88937	D	10	0.09171924	0.16089	T	0.103509	0.77758	D	0.192	0.47115	0.284	0.24121	0.868130380872	0.86685	0.5813050137334396	0.58059	0.404985294729	0.41385	0.366939663887	0.20391	T	0.18116	0.53274	T	-0.0593468	0.43010	T	-0.222394	0.52505	T	0.0397857507263621	0.03651	T	0.49605	0.15399	T	0.03881562	0.05243	0.039262563	0.03978	0.03881562	0.05243	0.039262563	0.03978	-4.666	0.32990	T	.	.	0.069	0.03231	B	.	.	1.355779	0.17643	13.28	0.68724288449054283	0.08747	0.14832	0.18608	N	AEFDBHCI	0.200906	0.32761	N	-0.944096136456534	0.09826	0.4667622	-0.965383370864667	0.10569	0.5331012	0.999170021641337	0.38651	0.634777	0.41761	0	0.71359	0.82159	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.78	-1.23	0.08977	-0.148000	0.10203	0.960000	0.22984	0.659000	0.54702	0.000000	0.06391	0.499000	0.25194	0.370000	0.26111	0.1745:0.0:0.4157:0.4098	5.532	0.16275	8	0.99202	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	33	chr16	67939921	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.241;DP=732;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.398;SOR=0.47	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr16	67978581	67978581	C	T	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon3:c.G460A:p.V154M,DPEP3:NM_001370198:exon3:c.G460A:p.V154M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0178604427351	.	0.000199681	4.944e-05	0	8.637e-05	0.0001	0	4.498e-05	0	6.056e-05	5.17e-05	8	154602	rs200103050	4.378e-05	4.378e-05	3.948e-05	4.813e-05	6.708e-05	3.509e-05	3.193e-05	3.89e-05	3.491e-05	0	6.708e-05	0	2.519e-05	0	0	4.946e-05	4.969e-05	2.319e-05	2.629e-05	2.625e-05	2.572e-05	2.689e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.108418	0.19528	N	0.504256	0.669522	0.33129	D	.	.	.	1.85	0.24472	T	-2.08	0.47514	N	0.195	0.21449	-0.8065	0.54760	T	0.154	0.48498	T	10	0.10832426	0.20160	T	0.01786	0.39721	T	0.121	0.33580	.	.	0.117506650769	0.11410	0.29522186692647284	0.29435	0.412704439165	0.42005	0.364369094372	0.20021	T	.	.	.	-0.283149	0.10336	T	-0.464204	0.26144	T	0.920640170574188	0.57990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.273889	0.29066	18.00	0.99120397909504387	0.52985	0.11406	0.16613	N	AEFBI	0.095098	0.19219	N	0.00824023250414946	0.42228	2.540519	-0.288924830613787	0.28462	1.587169	4.07104299074968E-4	0.06860	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.88	-1.47	0.08312	0.525000	0.22664	-0.823000	0.07287	0.599000	0.40250	0.089000	0.22556	0.000000	0.08366	0.500000	0.29017	0.1592:0.4455:0.219:0.1763	2.159	0.03586	10	0.99061	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1479.33	34	chr16	67978581	.	C	T	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=799;ExcessHet=0;FS=6.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.907;SOR=1.278	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	67992160	67992160	C	T	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001369657:exon3:c.G424A:p.D142N,DPEP2:NM_022355:exon4:c.G424A:p.D142N	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00164522888141	0.0029	0.00139776	0.0027	0.0008	0.0022	0	0.0036	0.0036	0.0044	0.0015	0.0025873	400	154602	rs142359415	0.0028	0.0028	0.0029	0.0028	0.0120	0.0028	0.0027	0.0097	0.0089	0.0005	0.0027	0.0013	0	0.0029	0.0120	0.0031	0.0031	0.0012	0.0029	0.0029	0.0030	0.0028	0.0046	0.0027	0.0026	0.0042	0.0040	0.0006	0.0011	0.0030	0.0009	0	0.0026	0.0170	0.0046	0.0071	0.0010	0.842	0.02796	T	1.0	0.01155	T	0.001	0.07471	B	0.021	0.19346	B	0.018869	0.27384	N	0.415390	0.804486	0.29075	N	0.79	0.19579	N	1.94	0.22678	T	0.14	0.05405	N	0.158	0.16447	-1.0618	0.11312	T	0.020	0.08453	T	10	0.005759686	0.00128	T	0.001645	0.02676	T	0.025	0.05312	.	.	0.226586394389	0.22295	0.4884905136714286	0.48769	.	.	0.316417008638	0.12878	T	0.015481	0.12979	T	-0.625547	0.00102	T	-0.666766	0.07817	T	0.00324620136449302	0.00034	T	0.737326	0.35372	T	0.067462735	0.14612	0.06642359	0.13606	0.067462735	0.14612	0.06642359	0.13605	-3.789	0.20640	T	.	.	0.098	0.29670	B	.;.;.	.;.;.	2.116266	0.26937	17.29	0.76792664957519874	0.11611	0.58015	0.30529	D	AEFDBI	0.149344	0.27342	N	-0.556688396367197	0.20274	1.067604	-0.418316006404348	0.24460	1.339529	0.999906740539098	0.45458	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.11	3.16	0.35406	1.049000	0.30001	1.061000	0.23721	-0.180000	0.10397	1.000000	0.71638	0.228000	0.23763	0.741000	0.35472	0.0:0.7844:0.0:0.2156	6.320	0.20419	10	0.99061	.;.;.	.	.	.	.	rs142359415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015121	0.035354	0.010870	0.008772	0.000000	0.000000	0.024390	0.018939	0.05263	4850.83	37	chr16	67992160	.	C	T	4850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=916;ExcessHet=0.119;FS=1.914;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.305;SOR=0.81	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	17	0	2	0
chr16	68122320	68122320	G	C	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon2:c.G437C:p.R146T,NFATC3:NM_173163:exon2:c.G437C:p.R146T,NFATC3:NM_173165:exon2:c.G437C:p.R146T	.	430	1087	4	1	0	6	0.00275229	.	.	.	2298825	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.0360440679518	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767704241	1.094e-05	1.094e-05	6.806e-06	1.513e-05	0.0002	6.48e-06	5.24e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.23007	T	0.48	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.02	0.25474	L	2.95	0.09635	T	-1.66	0.39692	N	0.761	0.93841	-1.1708	0.00524	T	0.065	0.26772	T	9	0.5445495	0.63909	D	0.036044	0.56740	D	0.429	0.73590	0.221	0.14371	0.469922601075	0.46621	0.5988250057638664	0.59813	0.509076387246	0.49044	0.798245608807	0.81696	T	0.180625	0.53202	T	-0.0393023	0.46053	T	0.00609236	0.70729	D	0.317852586959414	0.25734	T	0.90371	0.66210	D	0.76103187	0.81514	0.37448645	0.62613	0.76103187	0.81515	0.37448645	0.62613	-3.845	0.21478	T	.	.	0.660	0.72201	P	.;.;.;.	.;.;.;.	4.770930	0.77233	26.7	0.97178160849562012	0.32709	0.99153	0.92009	D	AEFDBI	0.909773	0.86683	D	0.704811831473031	0.79949	7.186928	0.730280473975919	0.84676	8.359309	0.999999999999994	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	9.512000	0.97013	11.929000	0.99898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.310	0.94170	11	0.98996	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1964.33	45	chr16	68122320	.	G	C	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=894;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.298;SOR=0.628	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1606	18	0	1	0
chr16	68167001	68167001	T	C	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon5:c.T1760C:p.I587T,NFATC3:NM_173163:exon5:c.T1760C:p.I587T,NFATC3:NM_173165:exon5:c.T1760C:p.I587T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0127607144146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.05121	T	0.101	0.39040	T	0.967	0.60733	D	0.813	0.64720	P	0.000001	0.62929	D	0.129315	0.999967	0.52935	D	1.06	0.26948	L	1.06	0.39781	T	-0.44	0.14588	N	0.691	0.73375	-0.9034	0.47628	T	0.148	0.47469	T	10	0.59645724	0.66669	D	0.012761	0.31612	T	0.281	0.59861	0.419	0.46036	0.236619781664	0.23270	0.38716388932902646	0.38631	0.4464045927	0.44513	0.835779964924	0.87450	D	0.105167	0.41539	T	0.06784	0.60586	T	-0.140329	0.60090	T	0.921928822994232	0.58181	D	0.956304	0.83415	D	0.16079855	0.36045	0.17918544	0.40636	0.16079855	0.36045	0.17918544	0.40635	-10.447	0.77060	D	.	.	0.406	0.60172	A	.;.;.;.	.;.;.;.	4.560200	0.71854	25.7	0.99197778379257784	0.55171	0.98440	0.82799	D	AEFDGBI	0.907057	0.86059	D	0.589426272700913	0.72514	5.817761	0.655378354271738	0.79009	6.993278	0.999999995817614	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.991000	0.87898	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.312	0.82714	11	0.98996	Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr16	68167001	.	T	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=693;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.33;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr16	68274799	68274801	GAA	-	exonic	SLC7A6	.	nonframeshift deletion	SLC7A6:NM_003983:exon3:c.73_75del:p.E26del,SLC7A6:NM_001076785:exon4:c.73_75del:p.E26del	.	429	1071	19	3	0	25	0.0115367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0004	0	0	0.0008	0.0033	0.0038	0.0001537	4	26028	rs563160341	0.0007	0.0007	0.0006	0.0009	0.0071	0.0007	0.0007	0.0054	0.0048	2.987e-05	0.0006	3.826e-05	5.038e-05	3.744e-05	0.0071	0.0005	0.0017	0.0041	0.0006	0.0006	0.0005	0.0007	0.0037	0.0005	0.0004	0.0024	0.0020	0.0001	0	0.0007	0.0003	0	0	0.0034	0.0007	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.004076	0.002924	0.000000	0.000000	0.024390	0.007576	0.02632	4790.29	300	chr16	68274798	.	GGAA	G	4790.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.167;DP=927;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.646;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	18	0	1	0
chr16	68371358	68371358	G	C	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon3:c.C824G:p.P275R	.	428	1092	2	0	0	2	0.000914913	.	.	.	2356996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00833162009211	.	.	0.0002	0	0.0002	0	0	0.0003	0	8.493e-05	0.0002005	31	154602	rs758122946	0.0001	0.0002	0.0001	0.0002	0.0037	0.0001	0.0001	0.0025	0.0021	3.053e-05	0.0003	0.0020	0	0	0.0037	9.162e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.692e-05	5.277e-05	2.833e-05	7.213e-05	0	0.0002	0.0026	0	0	0.0034	8.82e-05	0.0014	0	0.046	0.40573	D	0.078	0.42614	T	0.001	0.07471	B	0.001	0.04355	B	0.207101	0.16456	N	0.646067	0.979692	0.25164	N	1.61	0.41143	L	.	.	.	-0.61	0.21003	N	0.162	0.30004	-1.0486	0.14790	T	0.062	0.25708	T	9	0.017626733	0.00378	T	0.008332	0.22055	T	0.070	0.20419	0.305	0.27485	0.117191471859	0.11215	0.28074510826002347	0.27987	0.222330798412	0.24767	0.391058027744	0.23818	T	0.156391	0.49854	T	-0.288668	0.09771	T	-0.353492	0.38805	T	0.0494196995385076	0.05398	T	0.682432	0.29103	T	0.037387438	0.04783	0.09914202	0.23660	0.037387438	0.04783	0.09914202	0.23660	-3.559	0.17267	T	.	.	0.076	0.10208	B	.;.;.	.;.;.	2.351585	0.30146	18.35	0.8527743499499042	0.15793	0.92756	0.56469	D	AEFBI	0.537584	0.55533	D	-0.502753221049579	0.21990	1.171084	-0.37204760964385	0.25834	1.423154	0.999953503598711	0.48110	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.2	4.19	0.48645	2.347000	0.43692	4.595000	0.43974	0.667000	0.69007	0.996000	0.39380	0.999000	0.35428	0.010000	0.09038	0.0:0.0:0.48:0.52	9.563	0.38548	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002725	0.014620	0.000000	0.017241	0.000000	0.000000	0.02632	975.33	45	chr16	68371358	.	G	C	975.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.402;DP=709;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.21;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr16	68822063	68822063	G	A	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon11:c.G1591A:p.A531T,CDH1:NM_001317185:exon12:c.G226A:p.A76T,CDH1:NM_004360:exon12:c.G1774A:p.A592T	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	1	1504	14	3	0	20	0.00660502	.	.	YES	50222	Hereditary_cancer-predisposing_syndrome|Hereditary_diffuse_gastric_adenocarcinoma|Breast_neoplasm|not_provided|CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome|Prostate_cancer|Blepharocheilodontic_syndrome_1|Familial_cancer_of_breast|Endometrial_carcinoma|Ovarian_neoplasm|not_specified|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0100488,MedGen:CN311521|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580,Orphanet:1997|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267|MedGen:CN169374|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.379	0.0476632062453	0.0045	0.00119808	0.0032	0.0008	0.0015	0	0.0017	0.0044	0.0077	0.0033	0.0031888	493	154602	rs35187787	0.0051	0.0051	0.0052	0.0051	0.0071	0.0050	0.0050	0.0058	0.0057	0.0008	0.0019	0.0027	7.557e-05	0.0020	0.0071	0.0059	0.0043	0.0041	0.0031	0.0031	0.0032	0.0030	0.0052	0.0029	0.0028	0.0048	0.0046	0.0010	0	0.0026	0.0020	0	0.0008	0	0.0052	0.0028	0.0035	0.002	0.72154	D	0.006	0.70582	D	0.492	0.36976	P	0.092	0.30031	B	0.303477	0.14557	N	0.595783	0.676292	0.33190	D	2.265	0.64440	M	0.09	0.61443	T	-2.75	0.58407	D	0.2	0.29544	-0.5484	0.66847	T	0.136	0.45184	T	10	0.018004835	0.00388	T	0.047663	0.63025	D	0.379	0.69696	.	.	0.859456898039	0.85809	0.5763979672520945	0.57568	0.285405207942	0.30946	0.3282148242	0.14664	T	0.78149	0.94236	D	-0.183083	0.23279	T	-0.0292229	0.68420	D	0.0434944579818931	0.04328	T	0.763824	0.54393	T	0.19971867	0.41922	0.28522268	0.54524	0.29414797	0.52375	0.26177776	0.51959	-10.874	0.78962	D	0.3007110421774146	0.39804	0.222	0.50204	B	.;.;.;.;.	.;.;.;.;.	3.634912	0.51511	23.1	0.99511564752947046	0.68678	0.98956	0.89144	D	AEFBI	0.913498	0.87556	D	0.21699784756795	0.52023	3.379	0.239853435129963	0.52075	3.384809	0.999999998858826	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.201000	0.94154	9.957000	0.82769	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	19.185	0.93627	334	0.86273	Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|Cadherin conserved site|Cadherin-like;Cadherin-like|Cadherin conserved site|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.050000	0.008621	0.003049	0.000000	0.05263	4813.81	34	chr16	68822063	.	G	A	4813.81	.	AC=2;AF=0.053;AN=38;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.26;SOR=0.859	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	1	0	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	125.37	209	chr16	68828281	.	G	C	125.37	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.919;DP=2448;ExcessHet=0.3672;FS=188.579;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=-0.861;SOR=8.813	GT:AD:DP:GQ:PL	./.:114,0:114:0:0,0,2069	9	0	3	7
chr16	69119314	69119314	G	T	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C1115A:p.S372Y,DERPC:NM_001002847:exon3:c.C1115A:p.S372Y,DERPC:NM_001040144:exon3:c.C1115A:p.S372Y,DERPC:NM_001366604:exon3:c.C1115A:p.S372Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0302760778452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.969	0.56768	D	0.863	0.61398	P	0.069243	0.21617	N	0.334636	1	0.81001	D	.	.	.	.	.	.	-1.91	0.44471	N	0.313	0.35301	-0.7327	0.58827	T	0.257	0.62744	T	8	0.33894116	0.50990	T	0.030276	0.52622	D	0.218	0.51265	0.129	0.03412	0.774998654722	0.77293	0.22108645309463099	0.22023	.	.	0.48913526535	0.37318	T	0.093378	0.39198	T	0.0691481	0.60746	T	-0.13845	0.60253	T	0.940173506736755	0.61227	D	0.558744	0.19484	T	0.17591359	0.38475	0.34742424	0.60397	0.17591359	0.38475	0.34742424	0.60396	-7.784	0.59588	D	.	.	0.302	0.53127	B	.	.	3.983426	0.58580	24.0	0.99007021054940247	0.50273	0.92055	0.54845	D	AEFDBCI	0.827167	0.74651	D	0.671699108079514	0.77777	6.740807	0.689371530058671	0.81570	7.558089	0.999998997067634	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.190000	0.58162	8.648000	0.77922	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	15.634	0.76685	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1444.33	38	chr16	69119314	.	G	T	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.539;DP=749;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=2.08;SOR=0.543	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	18	0	1	0
chr16	69187566	69187566	C	A	exonic	SNTB2	.	nonsynonymous SNV	SNTB2:NM_006750:exon1:c.C400A:p.R134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.123091542484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866597694	1.471e-06	8.893e-06	1.452e-06	1.49e-06	6.412e-05	2.4e-07	9e-08	1.062e-05	3.97e-06	0	0	0	6.412e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.743	0.43037	P	0.356	0.43023	B	0.003236	0.35241	N	0.249386	0.999999	0.58761	D	0.125	0.08623	N	1.82	0.25018	T	-2.9	0.60827	D	0.3	0.33904	-1.1192	0.02383	T	0.052	0.22114	T	10	0.2930761	0.46883	T	0.123092	0.80420	D	0.108	0.30607	0.474	0.55020	0.610613400217	0.60748	0.7261534639123018	0.72559	1.97820565408	0.93628	0.840588092804	0.88183	D	0.369357	0.73408	T	-0.0882037	0.38372	T	-0.364475	0.37534	T	0.851003706455231	0.50253	D	0.931607	0.74555	D	0.73116463	0.79789	0.6034624	0.76955	0.73116463	0.79790	0.6034624	0.76956	-9.664	0.71876	D	.	.	0.837	0.79086	P	.	.	4.016000	0.59280	24.1	0.99252235682974832	0.56924	0.08980	0.14824	N	AEFDBHCIJ	0.164474	0.29087	N	-0.058869449460877	0.39207	2.308398	-0.037287428677271	0.38044	2.235975	0.999999999996625	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.84	3.89	0.44098	0.892000	0.27957	5.571000	0.48943	0.580000	0.29708	0.757000	0.29209	1.000000	0.68203	0.995000	0.73285	0.1637:0.7488:0.0:0.0875	7.533	0.26864	102	0.95784	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	307.33	35	chr16	69187566	.	C	A	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.439;SOR=0.839	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,112,1096	18	0	1	0
chr16	69330302	69330302	G	C	exonic	PDF	.	nonsynonymous SNV	PDF:NM_022341:exon1:c.C269G:p.P90R	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.711196764318	.	.	0.0016	0	0	0	.	0	0	0.0021	7.12e-05	11	154602	rs763867526	7.025e-05	7.251e-05	2.15e-05	0.0001	0.0013	5.812e-05	5.379e-05	0.0011	0.0010	0	0	0	0	0	0	0	5.652e-05	0.0013	5.92e-05	5.907e-05	6.436e-05	5.381e-05	0.0017	3.08e-05	2.212e-05	0.0008	0.0006	2.408e-05	0	0	0	0	0	0	0	0	0.0017	0.109	0.29288	T	0.044	0.49663	D	0.809	0.45342	P	0.388	0.44086	B	0.000060	0.53742	U	0.075590	1	0.81001	D	2.03	0.55503	M	0.87	0.46412	T	-2.44	0.53420	N	0.425	0.46462	-0.9634	0.38527	T	0.122	0.42357	T	10	0.12534523	0.23819	T	0.711197	0.97651	D	0.156	0.40720	0.415	0.45380	0.763276645413	0.76111	0.5209542126048867	0.52018	0.648113168193	0.58167	0.87740111351	0.93608	D	0.057397	0.30554	T	-0.319696	0.06923	T	-0.262076	0.48616	T	0.199787588280328	0.20404	T	0.582642	0.21138	T	0.3431535	0.56529	0.30278987	0.56311	0.3431535	0.56529	0.30278987	0.56310	-7.639	0.58582	D	.	.	0.111	0.21616	B	.	.	3.410970	0.47314	22.4	0.95685420273791322	0.27552	0.73929	0.36161	D	AEFDBHCIJ	0.618048	0.60400	D	0.0881126958346744	0.45909	2.839654	0.0143967067643299	0.40381	2.409094	0.999999999999969	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	5.11	4.14	0.47821	2.682000	0.46601	7.267000	0.57978	0.662000	0.56354	0.957000	0.33433	1.000000	0.68203	0.025000	0.12405	0.0817:0.0:0.7696:0.1488	8.822	0.34191	118	0.95237	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1020.33	37	chr16	69330302	.	G	C	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=739;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.64;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,975	18	0	1	0
chr16	69331250	69331250	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001379261:exon5:c.G1708A:p.E570K	Congenital disorder of glycosylation, type IIh	192	1305	18	7	0	32	0.012112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321486	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs139824417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0056	0.0035	0.0077	0.1222	0.0053	0.0051	0.1140	0.1108	0.0005	0	0.0017	0	0.0372	0	0	0.0002	0.0062	0.1222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	223.17	14	chr16	69331250	.	C	T	223.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.92;DP=232;ExcessHet=0;FS=3.233;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.977;SOR=2.303	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	16	0	1	2
chr16	69339548	69339548	G	A	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001374871:exon1:c.C5T:p.A2V,COG8:NM_001379261:exon1:c.C5T:p.A2V,COG8:NM_001379262:exon1:c.C5T:p.A2V,COG8:NM_001379263:exon1:c.C5T:p.A2V,COG8:NM_001379264:exon1:c.C5T:p.A2V,COG8:NM_001379265:exon1:c.C5T:p.A2V,COG8:NM_001379266:exon1:c.C5T:p.A2V,COG8:NM_032382:exon1:c.C5T:p.A2V	Congenital disorder of glycosylation, type IIh	1	1517	4	0	0	4	0.00131666	.	.	.	364111	COG8-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012635,MedGen:C1970021,OMIM:611182,Orphanet:95428|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0283929379399	0.0009	0.000399361	0.0009	0.0001	0.0004	0	0.0010	0.0014	0.0012	0	0.0008926	138	154602	rs151318611	0.0012	0.0012	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0002	0.0005	0.0003	2.52e-05	0.0009	0.0007	0.0014	0.0007	8.125e-05	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0005	0.0006	0	0.0008	0	0.0015	0.0009	0	0.0	0.91255	D	0.07	0.43721	T	0.977	0.70673	D	0.532	0.55899	P	0.029956	0.25380	N	0.404996	0.659234	0.81001	D	0.69	0.16971	N	0.84	0.47477	T	0.01	0.06868	N	0.527	0.55626	-0.8443	0.52359	T	0.153	0.48239	T	10	0.035721958	0.01834	T	0.028393	0.51080	D	0.121	0.33580	.	.	0.650570683715	0.64766	0.623728007416969	0.62305	0.931547637929	0.71840	0.570794463158	0.48790	T	0.009768	0.08869	T	-0.295139	0.09126	T	-0.203507	0.54314	T	0.0743788362566226	0.09253	T	0.50065	0.15660	T	0.2525579	0.48272	0.4858937	0.70244	0.2525579	0.48272	0.4858937	0.70244	-7.011	0.54114	T	.	.	0.109	0.45641	B	.;.;.	.;.;.	3.851991	0.55811	23.7	0.99899591552263989	0.97199	0.75108	0.36761	D	ALL	0.478482	0.52103	N	0.287947966311812	0.55535	3.717743	0.310292957676522	0.56142	3.777366	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.16	5.16	0.70563	1.608000	0.36458	7.720000	0.67265	0.672000	0.70159	0.961000	0.33663	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.664	0.85106	118	0.95237	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1083.33	34	chr16	69339548	.	G	A	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.178;SOR=0.67	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr16	69692516	69692516	-	CAG	exonic	NFAT5	.	nonframeshift insertion	NFAT5:NM_001367709:exon12:c.2016_2017insCAG:p.Q681_V682insQ,NFAT5:NM_006599:exon12:c.2637_2638insCAG:p.Q888_V889insQ,NFAT5:NM_001113178:exon13:c.2688_2689insCAG:p.Q905_V906insQ,NFAT5:NM_138713:exon13:c.2691_2692insCAG:p.Q906_V907insQ,NFAT5:NM_173214:exon13:c.2409_2410insCAG:p.Q812_V813insQ,NFAT5:NM_173215:exon13:c.2409_2410insCAG:p.Q812_V813insQ,NFAT5:NM_138714:exon14:c.2409_2410insCAG:p.Q812_V813insQ	.	397	1118	6	0	1	7	0.00267618	.	.	.	570389	not_provided|Immunodeficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	6.665e-05	0	0.0002	0	0	3.03e-05	0	0.0002	3.84e-05	1	26028	rs773250291	4.183e-05	4.251e-05	3.411e-05	4.963e-05	0.0001	3.318e-05	3.008e-05	5.806e-05	4.042e-05	0	0.0001	3.859e-05	0.0001	0	0	3.696e-05	0	0.0001	1.975e-05	1.973e-05	1.288e-05	2.694e-05	1.474e-05	5.25e-06	2.46e-06	.	.	0	0	0	0	0	0	0.0068	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1595.29	34	chr16	69692516	.	A	ACAG	1595.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=746;ExcessHet=0;FS=3.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-2.037;SOR=0.875	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	18	0	1	0
chr16	69742555	69742555	T	G	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon9:c.A1016C:p.H339P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0237226172153	7.7e-05	0.00159744	0.0010	9.781e-05	8.637e-05	0	0	0	0	0.0069	0.0008409	130	154602	rs148297045	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.987e-05	4.472e-05	0	0	0	0	1.079e-05	0.0005	0.0065	0.0002	0.0002	0.0001	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.409e-05	0	0	0	0	0	0	1.471e-05	0	0.0052	0.11	0.29158	T	0.207	0.26969	T	0.988	0.62325	D	0.563	0.49647	P	0.000002	0.62929	D	0.101272	1	0.81001	D	2.56	0.74772	M	1.5	0.31205	T	-3.86	0.72471	D	0.679	0.68603	-1.1079	0.03256	T	0.078	0.31012	T	9	0.012899399	0.00275	T	0.023723	0.46692	T	0.219	0.51417	.	.	0.593458155424	0.59024	0.7379652657604463	0.73741	0.692715444287	0.60680	0.523649275303	0.42139	T	0.177098	0.52727	T	-0.280035	0.10664	T	-0.171441	0.57311	T	0.151412950109655	0.17215	T	0.938506	0.76886	D	0.8599639	0.88082	0.66626334	0.80430	0.8599639	0.88084	0.66626334	0.80431	-13.421	0.91023	D	.	.	0.212	0.44095	B	.	.	4.019867	0.59363	24.1	0.96754434030753178	0.30976	0.95248	0.63988	D	AEFDGBCI	0.865389	0.78446	D	0.243282777007323	0.53307	3.500214	0.227394131746566	0.51374	3.32038	0.999999999999948	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.59	4.59	0.56297	5.540000	0.66915	5.030000	0.46819	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:0.0:1.0	14.438	0.66868	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1745.33	33	chr16	69742555	.	T	G	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=768;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.698;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr16	69954556	69954556	T	G	exonic	CLEC18A	.	nonsynonymous SNV	CLEC18A:NM_001370523:exon3:c.T439G:p.C147G,CLEC18A:NM_001136214:exon4:c.T439G:p.C147G,CLEC18A:NM_001271197:exon4:c.T439G:p.C147G,CLEC18A:NM_182619:exon4:c.T439G:p.C147G	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0140490334408	0.0002	0.000599042	0.0003	0	0	0	0	0.0002	0.0028	0.0007	0.0001153	3	26028	rs144215595	0.0002	0.0002	0.0002	0.0003	0.0055	0.0002	0.0002	0.0040	0.0034	0.0002	8.972e-05	0.0012	0	0	0.0055	0.0001	0.0006	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.717e-05	0.0004	0.0003	0	0	6.539e-05	0.0012	0	0	0.0034	0.0002	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.492	0.41009	P	0.357	0.43052	B	0.000000	0.84330	D	0.000000	0.99968	0.48270	D	4.66	0.99393	H	2.82	0.10871	T	-10.11	0.98880	D	0.93	0.94196	-1.0150	0.25336	T	0.089	0.34381	T	9	0.48814273	0.60831	T	0.014049	0.33902	T	0.277	0.59375	.	.	0.450152462452	0.44640	0.8339316664193848	0.83352	1.51099141099	0.87238	0.731885254383	0.71782	T	0.182084	0.53397	T	-0.17956	0.23799	T	-0.132668	0.60746	T	0.316900551319122	0.25696	T	0.861714	0.55578	D	0.9789934	0.99032	0.92242587	0.96568	0.9789934	0.99032	0.92242587	0.96569	-13.199	0.90165	D	.	.	0.511	0.68297	A	.;.;.;.;.	.;.;.;.;.	3.820854	0.55171	23.6	0.94913027578932208	0.25777	0.82939	0.42102	D	AEFI	0.634250	0.61419	D	0.130906544421292	0.47908	3.010	-0.0275981126633473	0.38472	2.26719	0.0068457571650302	0.11323	0.554377	0.28877	0	0.573888	0.26702	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	1.97	1.97	0.25278	5.427000	0.66220	7.745000	0.68059	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:0.0:1.0	5.993	0.18706	242	0.90534	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007084	0.022059	0.005495	0.021930	0.000000	0.008929	0.000000	0.000000	0.02632	2133.33	214	chr16	69954556	.	T	G	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=2404;ExcessHet=0;FS=8.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.77;MQRankSum=5.19;QD=14.51;ReadPosRankSum=-1.305;SOR=1.215	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	18	0	1	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.02632	572.33	34	chr16	70132237	.	A	G	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=732;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.85;MQRankSum=-0.012;QD=6.02;ReadPosRankSum=-2.278;SOR=0.72	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr16	70153445	70153445	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon16:c.C1807T:p.R603W,PDPR:NM_001322119:exon16:c.C901T:p.R301W,PDPR:NM_001322117:exon18:c.C2107T:p.R703W,PDPR:NM_017990:exon18:c.C2107T:p.R703W	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.12326752382	.	.	1.71e-05	0.0001	0	0	0	0	0	6.38e-05	1.29e-05	2	154602	rs771120314	1.711e-05	2.668e-05	2.042e-05	1.376e-05	2.988e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	2.988e-05	2.238e-05	3.827e-05	0	0	0	1.709e-05	3.313e-05	1.16e-05	2.627e-05	2.626e-05	1.284e-05	4.032e-05	7.233e-05	8.14e-06	5.14e-06	1.918e-05	1.031e-05	7.233e-05	0	0	0	0	0	0	1.469e-05	0	0	0.001	0.78490	D	0.004	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-1.0	0.76037	T	-5.24	0.85247	D	0.932	0.95021	0.203	0.85967	D	0.597	0.85631	D	10	0.8816061	0.87472	D	0.123268	0.80440	D	0.770	0.92253	.	.	0.91246113623	0.91157	0.8807982011062933	0.88047	0.345189148028	0.36432	0.894468963146	0.95804	D	0.542935	0.91710	D	0.30367	0.83260	D	0.299054	0.88155	D	0.993524312973022	0.84356	D	0.983102	0.94254	D	0.755266	0.81175	0.80967647	0.88880	0.755266	0.81176	0.80967647	0.88881	-11.225	0.80877	D	.	.	0.696	0.72795	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.094920	0.94548	34	0.99926498679718112	0.99103	0.94798	0.62366	D	AEFDGBCI	0.782746	0.71394	D	0.787162439774005	0.85296	8.533773	0.769912935851093	0.87637	9.290834	1.0	0.98316	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	4.861000	0.62666	5.873000	0.50556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.270	0.93993	173	0.93306	Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	614.33	39	chr16	70153445	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=960;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=0.478;SOR=0.829	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	463	chr16	70177319	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=2646;ExcessHet=0;FS=1.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.57;MQRankSum=-3.66;QD=3.63;ReadPosRankSum=-1.696;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1348:.	18	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1058.33	510	chr16	70177328	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=3427;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.56;MQRankSum=-3.706;QD=3.44;ReadPosRankSum=-1.628;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1348:.	18	0	1	0
chr16	70252837	70252837	C	T	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon21:c.G2791A:p.G931S	.	0	1454	67	1	0	69	0.0231777	.	.	.	165489	not_specified|not_provided|Charcot-Marie-Tooth_disease_type_2|Charcot-Marie-Tooth_disease_axonal_type_2N	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.732	.	0.0076	0.00259585	0.0071	0.0012	0.0054	0	0.0024	0.0109	0.0099	0.0024	0.0072379	1119	154602	rs149377346	0.0092	0.0092	0.0091	0.0092	0.0281	0.0090	0.0090	0.0246	0.0232	0.0017	0.0064	0.0359	5.038e-05	0.0022	0.0281	0.0099	0.0103	0.0025	0.0071	0.0071	0.0076	0.0067	0.0098	0.0068	0.0066	0.0092	0.0089	0.0019	0.0296	0.0092	0.0274	0.0002	0.0019	0.0374	0.0098	0.0137	0.0037	0.206	0.19927	T	0.103	0.38305	T	0.991	0.64070	D	0.888	0.63021	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	-2.02	0.85542	D	-5.05	0.82700	D	0.676	0.68342	0.547	0.91189	D	0.714	0.90177	D	10	0.014511377	0.00305	T	.	.	.	0.732	0.90633	.	.	0.906813178185	0.90588	0.8323583257319518	0.83194	0.670430016386	0.59412	0.784261286259	0.79572	T	0.687839	0.90896	D	-0.240134	0.15332	T	-0.107324	0.62825	T	0.0231731431537159	0.01044	T	0.964804	0.86967	D	0.5661112	0.70847	0.40947896	0.65236	0.64004415	0.74834	0.45679823	0.68429	-10.392	0.76224	D	0.31644635950522565	0.41449	0.726	0.74026	P	.	.	4.897967	0.80482	27.3	0.99840427238722196	0.92057	0.97261	0.73647	D	ALL	0.952292	0.96762	D	0.802417178059142	0.86256	8.827541	0.746874004952094	0.85922	8.727716	1.0	0.98316	0.716459	0.82106	0	0.697927	0.68747	0	0.73237	0.93354	0	0.691587	0.68394	0	.	.	5.36	5.36	0.76624	7.845000	0.85166	7.525000	0.59824	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	16.590	0.84614	152	0.94023	DHHA1 domain	.	.	.	.	rs149377346	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.010101	0.031250	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	4800.83	33	chr16	70252837	.	C	T	4800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.262;DP=964;ExcessHet=0.119;FS=4.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.404;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1389	17	0	2	0
chr16	70253980	70253980	T	C	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon18:c.A2459G:p.K820R	.	0	1520	2	0	0	2	0.000657462	.	.	.	222533	Charcot-Marie-Tooth_disease_axonal_type_2N|not_provided|Charcot-Marie-Tooth_disease_type_2|not_specified|Inborn_genetic_diseases|AARS1-related_disorder	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	0.0200852177738	0.0012	0.00199681	0.0014	0.0006	0.0028	0	0.0011	0.0018	0.0033	0.0004	0.0016041	248	154602	rs147319762	0.0026	0.0026	0.0026	0.0025	0.0064	0.0025	0.0025	0.0048	0.0042	0.0004	0.0038	0	0	0.0009	0.0064	0.0030	0.0019	0.0005	0.0018	0.0018	0.0016	0.0020	0.0056	0.0016	0.0015	0.0046	0.0043	0.0003	0	0.0056	0	0	0.0012	0	0.0023	0.0014	0.0002	0.149	0.24758	T	0.223	0.25670	T	0.984	0.60733	D	0.859	0.61184	P	0.000000	0.84330	D	0.046076	1	0.81001	D	2.16	0.60381	M	-0.16	0.65378	T	-2.18	0.49187	N	0.384	0.42541	-0.2858	0.75382	T	0.321	0.68978	T	10	0.010879695	0.00240	T	0.020085	0.42610	T	0.212	0.50341	.	.	0.797518591576	0.79563	0.46475050342082136	0.46394	0.128338442843	0.14471	0.413469702005	0.26937	T	0.280539	0.65325	T	-0.36724	0.03736	T	-0.299888	0.44737	T	0.0437467894579807	0.04373	T	0.868613	0.57103	D	0.39564815	0.60430	0.26199952	0.51986	0.39564815	0.60430	0.26199952	0.51985	-5.205	0.38992	T	0.2435615757690651	0.32990	0.088	0.11797	B	.	.	3.590341	0.50659	23.0	0.99600398610670704	0.74160	0.88561	0.48546	D	ALL	0.594108	0.58917	D	0.499032837352912	0.67035	5.02807	0.448696786484109	0.64631	4.722992	0.999991887337928	0.74766	0.716459	0.82106	0	0.697927	0.68747	0	0.73237	0.93354	0	0.636	0.56748	0	.	.	5.53	5.53	0.82530	2.101000	0.41411	0.912000	0.22635	0.665000	0.62972	1.000000	0.71638	0.770000	0.26692	0.787000	0.37188	0.0:0.0:0.0:1.0	13.617	0.61579	152	0.94023	DHHA1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.014620	0.000000	0.017241	0.003049	0.000000	0.02632	2108.33	35	chr16	70253980	.	T	C	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=804;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.843;SOR=0.862	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr16	70270312	70270312	G	A	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon6:c.C700T:p.P234S	.	0	1508	14	0	0	14	0.00462046	.	.	.	213221	Leukoencephalopathy,_hereditary_diffuse,_with_spheroids_2|Trichothiodystrophy_8,_nonphotosensitive|Charcot-Marie-Tooth_disease_axonal_type_2N|Developmental_and_epileptic_encephalopathy,_29|AARS1-related_disorder|not_provided|Charcot-Marie-Tooth_disease_type_2|Inborn_genetic_diseases	MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661|MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339,Orphanet:442835|.|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.722	0.194417221843	0.0012	0.00199681	0.0018	0.0009	0.0035	0.0001	0	0.0017	0.0077	0.0026	0.0017917	277	154602	rs141840552	0.0016	0.0016	0.0015	0.0017	0.0083	0.0015	0.0015	0.0064	0.0058	0.0006	0.0033	0.0007	2.519e-05	9.36e-05	0.0083	0.0015	0.0019	0.0031	0.0015	0.0015	0.0014	0.0016	0.0048	0.0014	0.0013	0.0039	0.0036	0.0005	0	0.0048	0.0012	0	0	0.0136	0.0015	0.0047	0.0031	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.17	0.88688	M	-1.81	0.83970	D	-7.55	0.95188	D	0.746	0.74553	0.659	0.92656	D	0.754	0.91634	D	10	0.06569886	0.08904	T	0.194417	0.86361	D	0.722	0.90191	.	.	0.922210218927	0.92142	0.7786730908726052	0.77818	0.55814765762	0.52403	0.683518528938	0.64774	T	0.791345	0.94583	D	-0.0746405	0.40582	T	0.117902	0.78097	D	0.103330244970028	0.12719	T	0.979702	0.93041	D	0.8979881	0.91203	0.9296901	0.97073	0.9360494	0.94846	0.9131859	0.95916	-8.262	0.62842	D	0.5472215306938272	0.61619	0.362	0.57367	A	.	.	4.830553	0.78774	27.0	0.99911775024859228	0.98095	0.97165	0.73072	D	AEFDGBCI	0.925070	0.90406	D	1.01178846863808	0.96096	14.29664	0.966259145137397	0.97861	16.91341	0.999999969601682	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	8.031000	0.89168	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.790	0.88460	149	0.94096	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.012228	0.011696	0.000000	0.017241	0.000000	0.003788	0.05263	3628.83	37	chr16	70270312	.	G	A	3628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.55;DP=936;ExcessHet=0.119;FS=2.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.737;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	17	0	2	0
chr16	70271851	70271851	C	T	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon5:c.G601A:p.A201T	.	.	.	.	.	.	.	.	.	.	.	574150	Charcot-Marie-Tooth_disease_type_2|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0216068161908	.	.	4.119e-05	0	8.639e-05	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs760716722	2.189e-05	2.189e-05	2.314e-05	2.063e-05	6.708e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	6.708e-05	0	0	0	0	2.608e-05	0	0	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.074	0.42976	T	0.47	0.36540	P	0.2	0.36839	B	0.000142	0.49130	N	0.208972	0.999967	0.52935	D	1.605	0.40863	L	-0.63	0.72011	T	-1.74	0.41239	N	0.293	0.33140	-0.4311	0.71031	T	0.350	0.71399	T	10	0.2055561	0.36786	T	0.021607	0.44401	T	0.177	0.44549	0.438	0.49157	0.748652128195	0.74638	0.3434984729162173	0.34262	0.332461240393	0.35292	0.582341313362	0.50415	T	0.405184	0.76143	T	-0.131203	0.31302	T	-0.269875	0.47831	T	0.0972619530400862	0.12052	T	0.983102	0.94254	D	0.2900656	0.51998	0.23619391	0.48884	0.2900656	0.51998	0.23619391	0.48883	-8.057	0.61458	D	0.31982096656696496	0.41795	0.12	0.24767	B	.	.	4.140606	0.62030	24.4	0.99903052685487381	0.97426	0.55216	0.29808	D	AEFDBCI	0.219692	0.34454	N	0.0848408564801676	0.45756	2.826871	0.122526464036858	0.45704	2.828824	0.999993561242671	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	0.826000	0.27061	4.023000	0.41268	0.599000	0.40250	0.196000	0.24261	0.999000	0.35428	0.802000	0.37819	0.0:1.0:0.0:0.0	17.802	0.88500	148	0.94114	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	33	chr16	70271851	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=727;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.7;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	18	0	1	0
chr16	70463641	70463641	A	G	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon3:c.A101G:p.K34R	.	416	1105	1	0	0	1	0.000452284	.	.	.	3256996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00543952984423	.	.	2.503e-05	0	0	0	0	1.515e-05	0	0.0001	1.94e-05	3	154602	rs757254446	2.6e-05	2.599e-05	2.315e-05	2.889e-05	0.0007	1.933e-05	1.693e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-05	3.313e-05	0.0001	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.365	0.11732	T	0.677	0.17585	T	0.002	0.09854	B	0.002	0.06944	B	0.001162	0.39978	N	0.211687	1	0.81001	D	-0.305	0.03614	N	3.34	0.42502	T	-0.66	0.19085	N	0.189	0.22098	-1.0601	0.11731	T	0.045	0.19234	T	10	0.053344876	0.05511	T	0.00544	0.13984	T	0.045	0.12272	0.267	0.21418	0.466059976078	0.46230	0.21183611874079974	0.21099	0.0531325948956	0.05856	0.515987753868	0.41062	T	0.072333	0.42074	T	-0.355312	0.04402	T	-0.545503	0.17760	T	0.0565655857801841	0.06616	T	0.692631	0.32987	T	0.015141967	0.00124	0.026226984	0.00701	0.015141967	0.00124	0.026226984	0.00701	-0.92	0.01121	T	.	.	0.069	0.03661	B	.;.;.;.;.;.	.;.;.;.;.;.	2.226972	0.28424	17.79	0.96631552237445739	0.30516	0.79007	0.39071	D	AEFBI	0.177310	0.30455	N	-0.423223530801497	0.24657	1.332937	-0.228969255392804	0.30503	1.718012	5.13167034785591E-4	0.07201	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.05	3.92	0.44525	2.125000	0.41639	7.688000	0.65646	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.5563:0.1443:0.1603:0.1391	1.506	0.02337	106	0.95650	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	598.33	36	chr16	70463641	.	A	G	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.892;DP=704;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=2.05;SOR=0.902	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr16	70473146	70473146	G	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon15:c.G1570T:p.A524S	.	422	1099	1	0	0	1	0.000454752	.	.	.	1921292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.0121327765523	.	0.00199681	0.0020	0	0	0	0	0	0	0.0045	0.0004204	65	154602	rs550917987	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	3.136e-05	2.727e-05	0	0	2.347e-05	0	5.543e-06	0.0004	0.0055	0.0002	0.0002	8.993e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	4.812e-05	0	0	0	0	0	0	0	0.0005	0.0058	0.834	0.02921	T	0.995	0.04274	T	0.278	0.32022	B	0.057	0.26280	B	0.029261	0.25478	N	0.430306	0.987874	0.24471	N	0.69	0.16971	N	3.35	0.07820	T	0.24	0.04533	N	0.312	0.41853	-0.9797	0.35071	T	0.010	0.03719	T	10	0.004281014	0.00086	T	0.012133	0.30425	T	0.032	0.07718	0.334	0.32167	0.0401082797425	0.02173	0.15923441641509511	0.15844	0.0563879772125	0.06225	0.524007499218	0.42190	T	0.060343	0.38719	T	-0.524545	0.00414	T	-0.524744	0.19815	T	0.0241070273122131	0.01158	T	0.728327	0.46890	T	0.06332186	0.13322	0.06793932	0.14122	0.06983961	0.15334	0.070338145	0.14932	-3.463	0.18832	T	.	.	0.087	0.14751	B	.;.;.	.;.;.	1.498564	0.19264	14.18	0.95300012682249913	0.26618	0.82707	0.41898	D	AEFDBI	0.181037	0.30835	N	-0.536319577025935	0.20914	1.10609	-0.383755223026465	0.25481	1.401557	0.998422893216646	0.36942	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	5.84	3.9	0.44240	2.640000	0.46245	5.091000	0.47354	0.672000	0.70159	0.157000	0.23755	1.000000	0.68203	0.777000	0.36790	0.2717:0.0:0.7283:0.0	9.569	0.38581	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021739	0.000000	0.031768	0.015244	0.000000	0.035088	0.015823	0.030534	0.02632	519.33	30	chr16	70473146	.	G	T	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.384;DP=718;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=2.6;SOR=1.179	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr16	70517728	70517728	C	A	exonic	COG4	.	nonsynonymous SNV	COG4:NM_001195139:exon3:c.G255T:p.Q85H,COG4:NM_015386:exon3:c.G267T:p.Q89H	Congenital disorder of glycosylation, type IIj, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0190342290504	.	0.000998403	0.0002	9.626e-05	0	0	0	0	0	0.0013	0.0001811	28	154602	rs533751802	9.601e-05	9.577e-05	6.008e-05	0.0001	0.0015	8.263e-05	7.803e-05	0.0013	0.0012	0	0	0	0	0	0	3.608e-06	9.956e-05	0.0015	7.89e-05	7.878e-05	3.859e-05	0.0001	0.0023	4.499e-05	3.514e-05	0.0013	0.0010	2.41e-05	0	0	0	0	0	0	0	0	0.0023	0.178	0.23541	T	0.09	0.69154	T	.	.	.	.	.	.	0.000000	0.84330	N	0.051579	0.999996	0.58761	D	.	.	.	0.88	0.46028	T	-2.16	0.56630	N	0.781	0.77789	-1.0605	0.11632	T	0.084	0.32814	T	10	0.016655445	0.00352	T	0.019034	0.41279	T	0.189	0.46613	.	.	0.227934060464	0.22382	0.4512288899337126	0.45040	0.57016417358	0.53181	0.771545052528	0.77656	T	0.025147	0.22326	T	-0.2797	0.10700	T	-0.220098	0.52729	T	0.156035310304782	0.17574	T	0.90321	0.66162	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.54883	B	.;.;.;.	.;.;.;.	3.043664	0.40817	21.2	0.99412022595370042	0.63310	0.96917	0.71647	D	AEFBI	0.604076	0.59531	D	-0.216482988764977	0.32457	1.830669	-0.112772560292664	0.34874	2.011045	0.999941936163308	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.35	0.37468	3.229000	0.50979	2.066000	0.30419	0.594000	0.32500	1.000000	0.71638	0.986000	0.30841	0.937000	0.47636	0.0:0.8537:0.0:0.1463	11.457	0.49432	103	0.95740	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	40	chr16	70517728	.	C	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=804;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=0.303;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr16	70517729	70517729	T	G	exonic	COG4	.	nonsynonymous SNV	COG4:NM_001195139:exon3:c.A254C:p.Q85P,COG4:NM_015386:exon3:c.A266C:p.Q89P	Congenital disorder of glycosylation, type IIj, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.025439733624	.	0.000998403	0.0002	9.628e-05	0	0	0	0	0	0.0013	0.0001811	28	154602	rs552930113	9.606e-05	9.577e-05	6.01e-05	0.0001	0.0015	8.267e-05	7.806e-05	0.0013	0.0012	0	0	0	0	0	0	3.61e-06	9.959e-05	0.0015	7.884e-05	7.876e-05	3.857e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	2.408e-05	0	0	0	0	0	0	0	0	0.0023	0.19	0.30800	T	0.204	0.65728	T	.	.	.	.	.	.	0.000000	0.84330	D	0.051579	1	0.81001	D	.	.	.	1.0	0.41392	T	-3.18	0.69950	D	0.853	0.87481	-0.8492	0.52024	T	0.174	0.51801	T	10	0.034134626	0.01611	T	0.02544	0.48409	D	0.415	0.72555	.	.	0.445910236696	0.44209	0.7530832726466796	0.75255	0.634946160305	0.57331	0.751070916653	0.74604	T	0.065831	0.34374	T	-0.052812	0.44020	T	0.105811	0.77294	D	0.287734461630005	0.24495	T	0.949505	0.80559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.72861	P	.;.;.;.	.;.;.;.	3.871435	0.56212	23.7	0.99763366681018728	0.85254	0.98796	0.86965	D	AEFBI	0.963031	0.98481	D	0.486326978769228	0.66292	4.931217	0.476514666140476	0.66438	4.951964	0.999999999290744	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.750000	0.84000	7.773000	0.68509	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:0.0:1.0	15.323	0.73851	103	0.95740	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	40	chr16	70517729	.	T	G	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=804;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=0.414;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	18	0	1	0
chr16	70660114	70660114	C	A	exonic	IL34	.	nonsynonymous SNV	IL34:NM_001172771:exon7:c.C653A:p.S218Y,IL34:NM_001172772:exon7:c.C656A:p.S219Y,IL34:NM_152456:exon7:c.C656A:p.S219Y	.	.	.	.	.	.	.	.	.	.	.	3686548	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0206908979092	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749242332	4.792e-06	4.788e-06	4.087e-06	5.504e-06	4.641e-05	1.99e-06	1.28e-06	1.584e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	1.657e-05	4.641e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.336	0.18395	T	0.799	0.44910	P	0.195	0.36592	B	0.993509	0.08014	N	0.996321	1	0.08975	N	0	0.06538	N	1.45	0.32482	T	-0.65	0.18877	N	0.194	0.32148	-1.0568	0.12569	T	0.033	0.14247	T	10	0.08607489	0.14594	T	0.020691	0.43334	T	0.016	0.02506	0.216	0.13643	0.262662153117	0.25859	0.09559408697118849	0.09491	0.0640153949125	0.07131	0.344618737698	0.17126	T	0.002179	0.07427	T	-0.309064	0.07831	T	-0.581095	0.14447	T	0.0809416658670601	0.10107	T	0.412159	0.11436	T	0.04584277	0.07571	0.058617264	0.10860	0.04584277	0.07571	0.058617264	0.10860	-5.647	0.43219	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	1.411968	0.18276	13.65	0.66964568479909614	0.08214	0.18078	0.20110	N	AEFDBCI	0.077369	0.15585	N	-0.670029836072713	0.16879	0.863861	-0.737257204763079	0.16036	0.8464119	0.838220270448992	0.24818	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.1	1.89	0.24700	0.406000	0.20754	1.833000	0.29130	0.594000	0.32500	0.000000	0.06391	0.004000	0.18990	0.006000	0.07323	0.0:0.6177:0.1826:0.1997	4.588	0.11689	285	0.88719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1931.33	39	chr16	70660114	.	C	A	1931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.063;DP=847;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.702;SOR=0.379	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1422	18	0	1	0
chr16	70664616	70664616	C	A	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon14:c.G1453T:p.D485Y	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.290166087439	.	0.000399361	0.0002	0	0	0	0	0	0	0.0018	0.0002005	31	154602	rs561037508	7.051e-05	7.046e-05	3.406e-05	0.0001	0.0011	5.918e-05	5.527e-05	0.0010	0.0009	0	0	0	0	0	0.0002	8.994e-07	4.975e-05	0.0011	3.939e-05	3.937e-05	2.57e-05	5.37e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.002	0.72154	D	0.03	0.54159	D	1.0	0.90584	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.69	0.78713	M	-0.82	0.74053	T	-7.25	0.94352	D	0.889	0.95491	0.216	0.86178	D	0.582	0.84982	D	10	0.26450405	0.43938	T	0.290166	0.90536	D	0.541	0.80842	0.254	0.19378	0.59002111462	0.58677	0.7185057750072416	0.71793	0.226704076737	0.25215	0.908402562141	0.97317	D	0.502184	0.82215	D	0.00264102	0.52017	T	0.195639	0.82888	D	0.324115467939259	0.25988	T	0.996	0.98481	D	0.8940958	0.90861	0.7914625	0.87736	0.8940958	0.90862	0.7914625	0.87737	-16.486	0.98402	D	.	.	0.995	0.96051	P	.;.	.;.	5.307293	0.89095	29.9	0.99609192780736022	0.74694	0.95882	0.66560	D	AEFDBCI	0.929683	0.91581	D	0.760991143462773	0.83620	8.06508	0.718856007567222	0.83811	8.120739	0.999999999999461	0.74766	0.787689	0.99735	0	0.588015	0.36545	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.871000	0.85545	7.553000	0.60314	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.654	0.88077	289	0.88525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	616.33	37	chr16	70664616	.	C	A	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=728;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.256;SOR=1.123	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1283	18	0	1	0
chr16	70903767	70903767	C	G	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon52:c.G8707C:p.V2903L	Ciliary dyskinesia, primary, 5, Autosomal recessive	552	969	0	1	0	2	0.00103093	.	.	.	3894013	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0123321478272	.	.	0	0	0	0	.	0	0	0	0.0001921	5	26028	rs539996083	0.0011	0.0010	0.0005	0.0016	0.0129	0.0010	0.0009	0.0118	0.0114	0.0001	0	0	7.693e-05	0	0	1.03e-05	0.0002	0.0129	0.0004	0.0004	0.0003	0.0005	0.0100	0.0002	0.0002	0.0056	0.0043	0	0	0	0	0	0	0	0	0	0.0100	0.435	0.09401	T	.	.	.	.	.	.	.	.	.	0.508094	0.11874	U	0.609345	1	0.08975	N	2.555	0.74557	M	5.56	0.00864	T	-1.27	0.31981	N	0.314	0.35408	-0.9234	0.45084	T	0.005	0.01578	T	10	0.0070207715	0.00160	T	0.012332	0.30806	T	0.074	0.21613	0.438	0.49157	0.0954503805726	0.09146	0.03304555268160187	0.03252	.	.	0.332303225994	0.15282	T	0.073969	0.34826	T	-0.639588	0.00084	T	-0.679177	0.07034	T	0.0476581647543335	0.05083	T	.	.	.	0.12801263	0.29940	0.12731843	0.30649	0.12801263	0.29940	0.12731843	0.30648	-3.612	0.18031	T	.	.	0.166	0.36633	B	.	.	1.733492	0.22059	15.46	0.9451468200478419	0.25000	0.08138	0.14103	N	AEFDBI	0.156054	0.28135	N	-0.375376423404422	0.26349	1.437363	-0.327984364694573	0.27198	1.507568	0.999885845593893	0.44867	0.59774	0.34471	0	0.596491	0.49125	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.25	4.3	0.50540	1.112000	0.30786	0.392000	0.17901	0.596000	0.33519	0.008000	0.17931	0.005000	0.19230	0.986000	0.61781	0.0:0.6883:0.1503:0.1614	6.522	0.21480	523	0.74147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	115.41	8	chr16	70903767	.	C	G	115.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=156;ExcessHet=0;FS=0;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=11.54;ReadPosRankSum=0.2;SOR=0.16	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,348	18	0	1	0
chr16	70920883	70920883	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon46:c.G7493A:p.R2498H	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0209131462519	.	.	1.364e-05	0	0	0	0	2.52e-05	0	0	3.84e-05	1	26028	rs746731066	1.853e-05	2.121e-05	1.774e-05	1.932e-05	0.0002	1.269e-05	1.088e-05	1.38e-05	1.153e-05	0	2.292e-05	0	0	0	0.0002	2.073e-05	1.661e-05	1.166e-05	3.284e-05	3.283e-05	6.421e-05	0	6.54e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.879e-05	0	0	0.068	0.35726	T	.	.	.	.	.	.	.	.	.	0.330683	0.14119	U	0.515025	0.891802	0.27868	N	2.44	0.70756	M	5.5	0.00921	T	-1.51	0.36787	N	0.325	0.36569	-0.6514	0.62653	T	0.009	0.03011	T	10	0.2512455	0.42462	T	0.020913	0.43593	T	0.131	0.35738	0.188	0.09776	0.243972157842	0.24002	0.21263850183483887	0.21179	.	.	0.447768419981	0.31640	T	0.087519	0.37960	T	-0.118439	0.33378	T	-0.407906	0.32467	T	0.932056665420532	0.59784	D	.	.	.	0.085915715	0.19950	0.10762927	0.25912	0.085915715	0.19950	0.10762927	0.25912	-3.584	0.17625	T	.	.	0.111	0.21503	B	.	.	3.707702	0.52916	23.3	0.99929141118224163	0.99279	0.75337	0.36882	D	AEFDBI	0.162065	0.28820	N	0.456623879849573	0.64579	4.715752	0.449958396936552	0.64715	4.733033	0.999999259134324	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.89	4.93	0.64394	1.795000	0.38418	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:0.8636:0.0:0.1364	11.355	0.48848	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	781.33	34	chr16	70920883	.	C	T	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.2;MQRankSum=0.733;QD=13.47;ReadPosRankSum=-1.775;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	18	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.43	152	chr16	70941764	.	T	C	39.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=1287;ExcessHet=0;FS=22.059;InbreedingCoeff=-0.0336;MLEAC=1;MLEAF=0.026;MQ=49.95;MQRankSum=-5.103;QD=0.39;ReadPosRankSum=-1.785;SOR=4.318	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	0	1	0
chr16	70943930	70943930	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon42:c.C6551T:p.P2184L	Ciliary dyskinesia, primary, 5, Autosomal recessive	0	1496	25	1	0	27	0.00894336	.	.	.	2817697	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00421247922249	8.2e-05	0.000199681	0.0005	0	0.0007	0	0	0.0002	0.0017	0.0018	0.0002975	46	154602	rs201833742	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0003	0	0	0	0.0047	0.0002	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0014	7.57e-05	6.276e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0014	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.098996	0.19955	N	0.246545	1	0.08975	N	0.335	0.10427	N	5.51	0.00912	T	-2.48	0.54059	N	0.178	0.19190	-0.9282	0.44400	T	0.003	0.01092	T	10	0.008992434	0.00203	T	0.004212	0.10153	T	0.048	0.13305	.	.	0.0482279557977	0.04254	0.13281182242206993	0.13205	.	.	0.292147189379	0.09236	T	0.288791	0.66158	T	-0.718616	0.00028	T	-0.85057	0.00952	T	0.0098813491200153	0.00131	T	.	.	.	0.0272746	0.01897	0.040950816	0.04543	0.0272746	0.01897	0.040950816	0.04543	-4.602	0.32197	T	.	.	0.068	0.02829	B	.	.	0.275899	0.06533	3.015	0.45450718449104699	0.03568	0.05380	0.11244	N	AEFBI	0.042569	0.06621	N	-1.46768840436088	0.02082	0.09154312	-1.47896888674186	0.02517	0.1159069	0.999599919016024	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.95	0.298	0.15015	0.502000	0.22302	2.248000	0.31665	-0.925000	0.02178	0.002000	0.15269	0.979000	0.30280	0.001000	0.02609	0.2182:0.0:0.7818:0.0	12.359	0.54518	564	0.70960	Hydin adenylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1381.33	136	chr16	70943930	.	G	A	1381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.133;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	18	0	1	0
chr16	70955507	70955507	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon40:c.G6184A:p.A2062T	Ciliary dyskinesia, primary, 5, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0258757359081	.	.	1.84e-05	0	0	0	0	1.623e-05	0.0013	0	3.84e-05	1	26028	rs771325517	2.604e-05	2.737e-05	2.247e-05	2.962e-05	0.0002	1.921e-05	1.677e-05	6.065e-05	3.901e-05	0.0002	0	0	2.531e-05	0	0	2.679e-05	3.393e-05	0	5.266e-05	5.255e-05	5.145e-05	5.394e-05	0.0002	2.561e-05	1.833e-05	7.906e-05	5.597e-05	0.0002	0	0	0	0	0	0	1.471e-05	0	0	0.321	0.13522	T	.	.	.	.	.	.	.	.	.	0.085484	0.20639	U	0.237336	1	0.08975	N	1.86	0.49225	L	1.04	0.40218	T	-1.23	0.31170	N	0.198	0.21839	-1.0479	0.14988	T	0.079	0.31375	T	10	0.121441424	0.23021	T	0.025876	0.48826	D	0.046	0.12618	0.354	0.35408	0.187945064343	0.18414	0.5518624456536453	0.55112	.	.	0.376389056444	0.21744	T	0.058098	0.30750	T	-0.294295	0.09208	T	-0.54306	0.17997	T	0.316457629203796	0.25678	T	.	.	.	0.07778883	0.17676	0.075742185	0.16707	0.07778883	0.17675	0.075742185	0.16706	-8.146	0.62060	D	.	.	0.139	0.30397	B	.	.	2.030910	0.25809	16.90	0.93806641595767271	0.23779	0.32854	0.24687	N	AEFDBCI	0.055006	0.10050	N	-0.421008054941181	0.24734	1.337633	-0.456065891523993	0.23377	1.274516	0.999994653995635	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	3.68	0.41359	1.076000	0.30340	2.704000	0.34183	0.599000	0.40250	0.569000	0.27497	0.993000	0.31925	0.019000	0.11356	0.0:0.7487:0.0:0.2513	8.479	0.32193	572	0.70300	Hydin adenylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	633.33	33	chr16	70955507	.	C	T	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.26;DP=668;ExcessHet=0;FS=2.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.42;MQRankSum=-1.705;QD=11.95;ReadPosRankSum=1.46;SOR=0.356	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1159	18	0	1	0
chr16	71069386	71069386	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon14:c.C1936T:p.H646Y,HYDIN:NM_001198543:exon14:c.C1906T:p.H636Y,HYDIN:NM_001270974:exon14:c.C1855T:p.H619Y,HYDIN:NM_017558:exon14:c.C1855T:p.H619Y	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	2817733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00217146394401	0.0012	0.000599042	0.0012	0.0004	0.0011	0	0.0003	0.0017	0.0011	0.0007	0.0008837	23	26028	rs144124863	0.0010	0.0010	0.0009	0.0010	0.0090	0.0009	0.0009	0.0071	0.0064	0.0002	0.0016	0.0081	0	0.0002	0.0090	0.0008	0.0020	0.0006	0.0011	0.0011	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0098	0	0	0.0170	0.0011	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.088968	0.02434	N	2.572970	1	0.08975	N	-1.1	0.00987	N	5.6	0.05989	T	-0.36	0.13035	N	0.087	0.06454	-0.9837	0.34140	T	0.010	0.03492	T	10	0.0025181174	0.00038	T	0.002171	0.04071	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.10813125051761875	0.10742	.	.	0.301112771034	0.10566	T	0.038342	0.24807	T	-0.60264	0.00141	T	-0.668506	0.07704	T	0.00890760338183509	0.00111	T	.	.	.	0.033103418	0.03464	0.04666248	0.06552	0.03027777	0.02663	0.046069797	0.06338	-6.149	0.49587	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	-0.888746	0.00944	0.036	0.15403906447541041	0.00375	0.02540	0.07059	N	AEFDBCI	0.045511	0.07451	N	-2.16966490958107	0.00090	0.003832085	-2.17309161829622	0.00129	0.00565431	0.999999981858464	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.98	-8.22	0.00910	-0.767000	0.04826	0.122000	0.14930	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1356:0.305:0.0816:0.4778	3.155	0.06112	679	0.60090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.000000	0.012228	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	1822.33	35	chr16	71069386	.	G	A	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.351;DP=805;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.29;MQRankSum=-4.176;QD=12.31;ReadPosRankSum=-0.043;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chr16	71129710	71129710	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon9:c.C1238T:p.A413V,HYDIN:NM_001198543:exon9:c.C1208T:p.A403V,HYDIN:NM_001270974:exon9:c.C1157T:p.A386V,HYDIN:NM_017558:exon9:c.C1157T:p.A386V	Ciliary dyskinesia, primary, 5, Autosomal recessive	3	1514	5	0	0	5	0.00164853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0019	0.00539137	0.0036	0.0004	0.0005	0	0.0002	0.0015	0.0067	0.0195	0.0031371	485	154602	rs150136432	0.0032	0.0032	0.0029	0.0035	0.0165	0.0031	0.0031	0.0158	0.0155	0.0003	0.0007	0	2.519e-05	3.744e-05	0.0005	0.0027	0.0030	0.0165	0.0019	0.0019	0.0017	0.0021	0.0182	0.0017	0.0017	0.0152	0.0140	0.0003	0	0.0021	0	0	0	0	0.0022	0.0028	0.0182	0.027	0.46513	D	0.042	0.50226	D	0.301	0.32572	B	0.094	0.30180	B	0.585394	0.11102	U	0.657383	0.996271	0.23064	N	0	0.06538	N	5.59	0.05710	T	-0.97	0.30964	N	0.146	0.14763	-0.9735	0.36453	T	0.019	0.08173	T	10	0.0040670037	0.00079	T	.	.	.	0.079	0.23065	.	.	0.107399877778	0.10242	0.13563045021395093	0.13487	.	.	0.242247447371	0.02996	T	0.066452	0.32950	T	-0.561535	0.00248	T	-0.565103	0.15900	T	0.0145680748363632	0.00299	T	.	.	.	0.05675926	0.11210	0.08637753	0.20007	0.052683085	0.09860	0.090011604	0.21082	-5.151	0.43372	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	2.145095	0.27317	17.42	0.96290929746779819	0.29315	0.53425	0.29369	D	AEFDBCI	0.228785	0.35241	N	-0.643677636558329	0.17644	0.9096978	-0.506401638956703	0.21979	1.191582	0.999998842188521	0.74766	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.663205	0.64265	0	.	.	4.97	3.86	0.43689	1.710000	0.37539	0.784000	0.21507	-0.757000	0.03535	0.847000	0.30396	0.039000	0.21534	0.274000	0.23868	0.0:0.0:0.1553:0.8447	11.342	0.48778	675	0.60470	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	773.33	45	chr16	71129710	.	G	A	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=967;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-2.583;QD=12.28;ReadPosRankSum=-0.337;SOR=1.447	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	18	0	1	0
chr16	71432269	71432269	C	A	exonic	TLE7	.	nonsynonymous SNV	TLE7:NM_001367365:exon5:c.G450T:p.W150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.023e-06	1.59e-06	0	7.941e-06	6.319e-06	0	0	.	.	0	0	0	0	0	0	6.319e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35035682	0.51909	T	.	.	.	.	.	.	.	.	.	0.3576483760796801	0.35678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560444	0.19591	T	0.22467335	0.45113	0.27915132	0.53881	0.22467335	0.45113	0.27915132	0.53880	-8.307	0.63142	D	.	.	0.491	0.64183	A	.	.	4.093473	0.60986	24.3	0.5630124354513395	0.05523	0.89514	0.50027	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0343553424479777	0.14150	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.151544	0.27487	4.41	2.38	0.28415	1.550000	0.35830	3.564000	0.39099	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.334000	0.25294	0.1641:0.6774:0.1585:0.0	9.263	0.36783	306	0.87689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	38.36	.	chr16	71432269	.	C	A	38.36	.	AC=2;AF=0.111;AN=18;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;QD=19.18;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	1	0	10
chr16	71478272	71478272	-	C	exonic	ZNF19	.	frameshift insertion	ZNF19:NM_006961:exon5:c.229dupG:p.A77Gfs*4	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000998403	0.0011	9.852e-05	0.0003	0	0	0.0006	0.0022	0.0049	0.0009508	147	154602	rs560107561	0.0006	0.0006	0.0004	0.0008	0.0052	0.0006	0.0006	0.0048	0.0046	5.974e-05	0.0004	0.0015	0	0	0.0050	0.0003	0.0010	0.0052	0.0005	0.0005	0.0005	0.0005	0.0058	0.0004	0.0004	0.0041	0.0036	2.409e-05	0	0.0005	0.0017	0	9.454e-05	0.0034	0.0004	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.005435	0.011696	0.050000	0.017241	0.003049	0.003788	0.05263	4233.77	35	chr16	71478272	.	G	GC	4233.77	.	AC=2;AF=0.053;AN=38;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.81;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1296	18	1	0	0
chr16	71572195	71572195	T	C	exonic	TAT	.	nonsynonymous SNV	TAT:NM_000353:exon6:c.A697G:p.I233V	Tyrosinemia, type II, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.0430691513699	0.0002	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs149946824	2.736e-05	2.805e-05	3.675e-05	1.788e-05	3.507e-05	2.062e-05	1.816e-05	2.625e-05	2.305e-05	0	0	0	0	0	0	3.507e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.075	0.34444	T	0.099	0.38891	T	0.836	0.46303	P	0.38	0.43842	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.73	0.44655	L	-2.88	0.91533	D	-0.84	0.22944	N	0.468	0.50418	0.393	0.88988	D	0.675	0.88751	D	10	0.46220592	0.59353	T	0.043069	0.60791	D	0.504	0.78600	.	.	0.886502306561	0.88538	0.6288299002649355	0.62815	0.233867804438	0.25922	0.64517390728	0.59300	T	0.359	0.72547	T	0.0489189	0.58204	T	-0.103862	0.63096	T	0.675220847129822	0.39571	D	0.882912	0.60466	D	0.44464856	0.63701	0.24623361	0.50128	0.44464856	0.63702	0.24623361	0.50127	-4.181	0.26476	T	0.2435016261340809	0.32982	0.112	0.21840	B	.	.	3.404223	0.47195	22.4	0.99638460543343732	0.76510	0.91862	0.54424	D	AEFGBCI	0.819696	0.74066	D	0.45392759637799	0.64426	4.696923	0.544508481828418	0.71018	5.591084	0.999999995009299	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	6.17	6.17	0.99707	5.065000	0.64175	6.190000	0.54754	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1256:0.0:0.0:0.8744	12.432	0.54915	179	0.93046	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	957.33	37	chr16	71572195	.	T	C	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=1.54;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr16	71850417	71850417	G	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G677A:p.R226Q	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	.	.	0.00359425	0.0086	0.0014	0.0123	0	0	0.0006	0.0105	0.0193	0.0013066	202	154602	rs147505763	0.0014	0.0014	0.0008	0.0020	0.0191	0.0014	0.0013	0.0183	0.0180	3.165e-05	0.0003	7.942e-05	0	0.0001	0.0035	0.0003	0.0014	0.0191	0.0007	0.0007	0.0004	0.0011	0.0176	0.0006	0.0006	0.0146	0.0135	4.813e-05	0	6.538e-05	0	0	9.423e-05	0	0.0003	0.0005	0.0176	0.238	0.17821	T	0.611	0.07666	T	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.914671	0.27430	N	1.445	0.36358	L	1.42	0.33189	T	0.88	0.01664	N	0.316	0.35620	-0.9982	0.30423	T	0.111	0.39888	T	9	0.0040242374	0.00078	T	.	.	.	0.231	0.53208	.	.	0.27132560031	0.26736	0.394877748054683	0.39402	.	.	0.472686946392	0.35050	T	7.7E-4	0.00369	T	-0.341534	0.05281	T	-0.249087	0.49907	T	0.0258004732453649	0.01379	T	0.825917	0.48908	T	0.09584715	0.22566	0.13532075	0.32402	0.09584715	0.22565	0.13532075	0.32401	-2.471	0.05586	T	.	.	0.102	0.18164	B	.	.	4.016529	0.59292	24.1	0.99779433441165644	0.86606	0.91905	0.54517	D	AEFBCI	0.560476	0.56887	D	0.452330450445879	0.64335	4.685708	0.509008187207464	0.68595	5.241779	0.999929681210294	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	6.573000	0.73899	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.217	0.93768	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.006024	0.000000	0.000000	0.026316	0.006098	0.012195	0.02632	1887.33	33	chr16	71850417	.	G	A	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=773;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.704;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr16	71850466	71850466	G	T	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G726T:p.L242F	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00387732748669	.	0.00159744	0.0028	0	0	0	0	0.0053	0	0.0014	0.0007568	117	154602	rs140112104	0.0028	0.0027	0.0028	0.0028	0.0074	0.0027	0.0027	0.0056	0.0050	0.0005	0.0023	0.0053	0	0.0008	0.0074	0.0031	0.0023	0.0016	0.0022	0.0022	0.0020	0.0023	0.0034	0.0020	0.0019	0.0031	0.0029	0.0006	0	0.0029	0.0037	0	0.0005	0.0170	0.0034	0.0019	0.0006	0.059	0.37536	T	0.693	0.05863	T	0.255	0.31319	B	0.025	0.20508	B	.	.	.	.	0.998111	0.22343	N	0	0.06538	N	1.4	0.33630	T	-0.88	0.23808	N	0.133	0.12913	-1.0951	0.04738	T	0.030	0.13067	T	9	0.004748881	0.00100	T	0.003877	0.09117	T	0.046	0.12618	0.102	0.01589	0.229924730088	0.22615	0.13991815819134318	0.13914	.	.	0.476045012474	0.35513	T	0.008887	0.08127	T	-0.52941	0.00387	T	-0.535658	0.18726	T	0.0107182480058163	0.00151	T	0.734227	0.35027	T	0.059047904	0.11953	0.11161324	0.26926	0.059047904	0.11953	0.11161324	0.26925	-4.462	0.30388	T	.	.	0.084	0.09481	B	.	.	3.328884	0.45818	22.2	0.98841391330813078	0.47135	0.87012	0.46427	D	AEFBCI	0.236999	0.35936	N	-0.199905727226656	0.33138	1.876696	0.00204800491214126	0.39810	2.366166	0.963718871140352	0.28710	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.28	0.50183	0.458000	0.21603	6.514000	0.55815	0.676000	0.76740	0.900000	0.31427	1.000000	0.68203	0.999000	0.91618	0.1224:0.1297:0.7479:0.0	9.837	0.40142	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002571	0.006250	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.02632	1899.33	33	chr16	71850466	.	G	T	1899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.047;DP=792;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.174;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr16	71860379	71860379	C	T	exonic	ZNF821	.	nonsynonymous SNV	ZNF821:NM_017530:exon6:c.G752A:p.R251Q,ZNF821:NM_001201553:exon7:c.G878A:p.R293Q,ZNF821:NM_001201554:exon7:c.G752A:p.R251Q,ZNF821:NM_001318239:exon7:c.G428A:p.R143Q,ZNF821:NM_001376300:exon7:c.G752A:p.R251Q,ZNF821:NM_001201552:exon8:c.G878A:p.R293Q,ZNF821:NM_001318238:exon8:c.G428A:p.R143Q,ZNF821:NM_001376297:exon8:c.G878A:p.R293Q,ZNF821:NM_001376299:exon8:c.G878A:p.R293Q,ZNF821:NM_001376298:exon9:c.G878A:p.R293Q	.	.	.	.	.	.	.	.	.	.	.	3636035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0135822701618	.	.	8.319e-06	9.86e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753358133	4.111e-06	4.104e-06	2.727e-06	5.508e-06	0.0002	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	6.57e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.0	0.92824	D	0.997	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	4.38	0.02255	T	-1.04	0.27259	N	0.537	0.64818	-1.1857	0.00292	T	0.027	0.11707	T	10	0.2937452	0.46948	T	0.013582	0.33091	T	0.226	0.52472	0.294	0.25720	0.344710718752	0.34073	0.9224290848874933	0.92219	2.09006224248	0.94723	0.780083417892	0.78940	T	0.163127	0.50806	T	-0.00593466	0.50832	T	-0.0641543	0.66040	T	0.574101410525555	0.35392	D	0.978169	0.92312	D	0.36121067	0.57928	0.25970381	0.51722	0.36121067	0.57929	0.25970381	0.51721	-8.632	0.65300	D	.	.	0.847	0.79600	P	.;.;.;.;.	.;.;.;.;.	5.501727	0.91592	32	0.99929800127756163	0.99279	0.98763	0.86538	D	AEFDBI	0.747480	0.68952	D	0.730329538238513	0.81622	7.565274	0.734774105504591	0.85016	8.456361	0.999999999826731	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.75	5.75	0.90390	4.538000	0.60361	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.935	0.97138	81	0.96616	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1262.33	37	chr16	71860379	.	C	T	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=747;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.371;SOR=0.788	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr16	71934063	71934063	G	T	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon27:c.C4676A:p.P1559Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0011	0.0005	0	0	0	0	0	0.0029	0.0002005	31	154602	rs561079933	0.0001	0.0001	7.895e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	9.268e-07	0.0002	0.0023	0.0001	0.0001	5.14e-05	0.0002	0.0031	6.509e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	0.004	0.74150	D	0.029	0.19866	B	0.003	0.08700	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.246	0.27792	.	.	.	.	.	.	.	0.008485287	0.00192	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.6426060024689262	0.64195	.	.	0.409530460835	0.26392	T	0.034281	0.23258	T	-0.207782	0.19694	T	-0.0764787	0.65161	T	.	.	.	0.323768	0.06600	T	0.064872816	0.13809	0.3052457	0.56552	0.064872816	0.13808	0.3052457	0.56551	-0.879	0.00875	T	.	.	0.211	0.43869	B	.	.	2.245512	0.28682	17.88	0.53283887001565577	0.04909	0.72780	0.35613	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999848144	0.74766	0.067858	0.01461	0	0.047999	0.00093	0	0.067997	0.01918	2	0.087121	0.02386	0	0.804487	0.47674	5.43	5.43	0.79006	4.581000	0.60661	3.986000	0.40947	-0.040000	0.17491	1.000000	0.71638	0.997000	0.33255	0.052000	0.15357	0.9161:0.0:0.0839:0.0	9.243	0.36670	77	0.96778	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002404	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.012195	0.02632	1101.33	45	chr16	71934063	.	G	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=787;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.003;SOR=0.813	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr16	71947503	71947503	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon22:c.T3707C:p.L1236S	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0010	0	0	0	0.0015	0	0	0.0001552	24	154602	rs200917227	0.0019	0.0018	0.0020	0.0018	0.0024	0.0018	0.0018	0.0023	0.0022	0.0002	0.0002	3.985e-05	0	0.0003	0.0018	0.0024	0.0012	0.0001	0.0014	0.0013	0.0016	0.0011	0.0026	0.0012	0.0012	0.0023	0.0022	0.0003	0	0.0009	0	0	9.764e-05	0	0.0026	0.0010	0.0002	.	.	.	0.002	0.79402	D	0.998	0.73220	D	0.863	0.61398	P	.	.	.	.	.	.	.	2.19	0.61577	M	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.029564202	0.01083	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.2815174154147947	0.28064	.	.	0.324349761009	0.14080	T	0.028023	0.20393	T	-0.393358	0.02558	T	-0.338964	0.40462	T	.	.	.	0.424758	0.11367	T	0.17527133	0.38377	0.40094346	0.64617	0.17527133	0.38377	0.40094346	0.64617	-3.311	0.13879	T	.	.	0.271	0.50509	B	.	.	3.413851	0.47373	22.4	0.82212547084786658	0.14076	0.87115	0.46558	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999744701595766	0.42466	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.917243	0.58151	4.99	4.99	0.65942	3.574000	0.53608	6.147000	0.54138	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	11.359	0.48873	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1327.33	116	chr16	71947503	.	A	G	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.376;DP=815;ExcessHet=0;FS=2.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.51;SOR=0.57	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr16	71963257	71963258	CA	-	exonic	PKD1L3	.	stopgain	PKD1L3:NM_181536:exon16:c.2559_2560del:p.C853*	.	440	1061	20	1	0	22	0.0102612	.	.	.	3546956	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0060	0.00199681	0.0033	0.0023	0.0024	0	0	0.0057	0.0083	0.0018	0.0006147	16	26028	rs528199822	0.0031	0.0029	0.0030	0.0031	0.0214	0.0030	0.0030	0.0183	0.0172	0.0010	0.0038	0.0118	2.799e-05	0.0002	0.0214	0.0031	0.0042	0.0018	0.0031	0.0031	0.0033	0.0029	0.0053	0.0029	0.0028	0.0044	0.0040	0.0010	0.0175	0.0053	0.0153	0.0002	0	0.0136	0.0037	0.0038	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018248	0.036842	0.022727	0.026087	0.000000	0.000000	0.011628	0.000000	0.02632	1230.29	33	chr16	71963256	.	TCA	T	1230.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=695;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.176;SOR=0.96	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr16	71977263	71977263	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1732G:p.L578V	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00179712	0.0028	0.0014	0	0	0.0037	0.0045	0.0165	0.0011	0.0010931	169	154602	rs139831076	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0053	0.0052	0.0005	0.0041	0.0027	5.608e-05	0.0033	0.0034	0.0054	0.0043	0.0011	0.0037	0.0037	0.0038	0.0035	0.0061	0.0034	0.0033	0.0056	0.0054	0.0010	0	0.0036	0.0017	0	0.0029	0	0.0061	0.0024	0.0012	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.34659	.	.	.	.	.	.	.	0.01028201	0.00229	T	.	.	.	.	.	.	.	0.144782658237	0.14088	0.38083282148693404	0.37998	.	.	0.379869073629	0.22239	T	0.085117	0.37429	T	-0.239699	0.15387	T	-0.11378	0.62309	T	.	.	.	0.510849	0.16306	T	0.10807859	0.25556	0.28520867	0.54523	0.10807859	0.25556	0.28520867	0.54522	-8.603	0.65109	D	.	.	0.208	0.43558	B	.	.	2.638330	0.34320	19.59	0.75063295232350136	0.10931	0.88356	0.48246	D	AEFDI	.	.	.	.	.	.	.	.	.	0.0338628262973798	0.14126	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.623454	0.41225	5.1	4.15	0.47978	2.721000	0.46930	3.660000	0.39404	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0895:0.0:0.9105:0.0	11.300	0.48536	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001222	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3553.83	34	chr16	71977263	.	G	C	3553.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.128;DP=916;ExcessHet=0.119;FS=6.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.761;SOR=1.073	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	17	0	2	0
chr16	71977335	71977335	G	A	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1660T:p.P554S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.019e-06	4.788e-06	1.415e-06	8.718e-06	0.0002	2.09e-06	1.34e-06	2.01e-06	1.32e-06	0	0	0	0	0	0.0002	5.583e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.998	0.73220	D	0.862	0.61339	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.30252522	0.47789	T	.	.	.	.	.	.	.	0.253205268125	0.24938	0.5043858954531156	0.50360	.	.	0.322745621204	0.13837	T	0.131092	0.46038	T	-0.0343243	0.46785	T	-0.287081	0.46076	T	.	.	.	0.509849	0.16238	T	0.15842262	0.35642	0.30899137	0.56915	0.15842262	0.35642	0.30899137	0.56914	-5.643	0.43183	T	.	.	0.128	0.27313	B	.	.	2.820046	0.37150	20.4	0.66517152275971791	0.08082	0.72630	0.35543	D	AEFI	.	.	.	.	.	.	.	.	.	0.0429259456075362	0.14548	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.940017	0.60129	5.25	4.28	0.50183	1.058000	0.30114	5.249000	0.48087	0.596000	0.33519	0.732000	0.28943	1.000000	0.68203	0.131000	0.19607	0.0866:0.0:0.9134:0.0	12.115	0.53160	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2554.33	190	chr16	71977335	.	G	A	2554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=2966;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.223;SOR=0.591	GT:AD:DP:GQ:PL	0/0:171,0:171:99:0,120,1800	18	0	1	0
chr16	72132750	72132750	G	C	exonic	PMFBP1	.	nonsynonymous SNV	PMFBP1:NM_031293:exon10:c.C1445G:p.A482G,PMFBP1:NM_001160213:exon11:c.C1010G:p.A337G	.	.	.	.	.	.	.	.	0.2525	0.36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00934259057245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.32929	T	0.211	0.33780	T	0.386	0.34500	B	0.178	0.35748	B	0.009650	0.30263	N	0.156008	1	0.81001	D	1.65	0.42232	L	2.49	0.14531	T	-0.24	0.45042	N	0.164	0.38950	-0.9958	0.31082	T	0.019	0.08079	T	10	0.059751987	0.10236	T	0.009343	0.24506	T	0.104	0.29647	0.028	0.00004	0.0482279557977	0.04254	0.0341137305118173	0.03359	0.159084507168	0.17954	0.2944008708	0.09569	T	0.04135	0.25830	T	-0.23253	0.16316	T	-0.57179	0.15286	T	0.309188545380948	0.25381	T	0.39976	0.34942	T	0.070024274	0.15391	0.11044102	0.26629	0.070024274	0.15391	0.11044102	0.26629	-5.966	0.47109	T	.	.	0.134	0.43544	B	.;.;.	.;.;.	3.326413	0.45769	22.2	0.97372309813929347	0.33627	0.12203	0.17124	N	AEFDBI	0.093375	0.18893	N	-0.44803841876955	0.23806	1.281073	-0.378480501921182	0.25640	1.411258	0.00113557024511462	0.08261	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	5.48	3.17	0.35510	1.016000	0.29578	2.090000	0.30543	0.676000	0.76740	0.001000	0.13787	0.015000	0.20450	0.957000	0.51019	0.1838:0.0:0.8162:0.0	10.520	0.44099	137	0.94565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1247.33	35	chr16	72132750	.	G	C	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.325;DP=721;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.267;SOR=1.356	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1440	18	0	1	0
chr16	72787733	72787733	-	GCCACT	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7800_7801insAGTGGC:p.G2600_G2601insSG,ZFHX3:NM_006885:exon10:c.10542_10543insAGTGGC:p.G3514_G3515insSG	.	278	1218	19	3	4	29	0.0101585	.	.	.	3214869	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0006	0.0001	0.0004	0.0006	0.0072	0.0173	0.0001921	5	26028	rs750444062	0.0009	0.0013	0.0006	0.0012	0.0150	0.0008	0.0008	0.0140	0.0136	0.0002	0.0004	0.0002	0	0.0001	0.0043	0.0003	0.0012	0.0150	0.0009	0.0009	0.0005	0.0012	0.0190	0.0007	0.0007	0.0158	0.0146	7.373e-05	0	0.0003	0.0003	0	0.0001	0	0.0004	0	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3623.29	35	chr16	72787733	.	C	CGCCACT	3623.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=1033;ExcessHet=0;FS=1.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=0.441;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr16	72788017	72788017	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A7517G:p.K2506R,ZFHX3:NM_006885:exon10:c.A10259G:p.K3420R	.	417	1099	6	0	0	6	0.00272232	.	.	.	797383	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.322	.	0.0046	0.00319489	0.0043	0.0008	0.0019	0	0.0045	0.0068	0.0079	0.0002	0.0044437	687	154602	rs117523752	0.0059	0.0059	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0008	0.0033	0.0025	2.52e-05	0.0046	0.0024	0.0070	0.0050	0.0003	0.0042	0.0042	0.0043	0.0041	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0039	0.0017	0	0.0037	0	0.0071	0.0043	0.0004	0.005	0.63226	D	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.000102	0.50451	D	0.000000	0.999919	0.51042	D	1.87	0.49600	L	-2.25	0.87272	D	-1.15	0.31778	N	0.125	0.11769	-0.4299	0.71070	T	0.376	0.73408	T	10	0.007080674	0.00161	T	.	.	.	0.322	0.64420	.	.	0.128874641272	0.12493	0.07071591449322331	0.07008	0.0763688091822	0.08569	0.541627585888	0.44676	T	0.102888	0.41104	T	-0.393312	0.02561	T	-0.333317	0.41098	T	0.0323492388846104	0.02364	T	0.739826	0.35853	T	0.11991955	0.28228	0.18092273	0.40922	0.11682754	0.27551	0.15798837	0.36915	-5.078	0.37674	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	3.682670	0.52423	23.2	0.89794482354043625	0.19107	0.89509	0.50019	D	AEFDGBCI	.	.	.	-0.224417341581947	0.32133	1.809018	-0.0942826417267529	0.35627	2.063385	0.999999800353153	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.3	3.18	0.35615	4.985000	0.63570	4.953000	0.46294	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0852:0.0:0.9148	9.791	0.39875	191	0.92559	.;.;.	.	.	.	.	rs117523752	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	2910.33	35	chr16	72788017	.	T	C	2910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=1057;ExcessHet=0;FS=4.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.498;SOR=0.457	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr16	72788114	72788134	GCTGCTGCTGCTGTAGTTGCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7400_7420del:p.R2467_Q2473del,ZFHX3:NM_006885:exon10:c.10142_10162del:p.R3381_Q3387del	.	.	.	.	.	.	.	.	.	.	.	797385	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0041	0.0008	0.0025	0.0005	0.0031	0.0057	0.0035	0.0030	0.0006916	18	26028	rs774837696	0.0044	0.0044	0.0045	0.0043	0.0047	0.0043	0.0042	0.0046	0.0046	0.0008	0.0023	0.0115	0.0004	0.0039	0.0010	0.0047	0.0041	0.0026	0.0030	0.0030	0.0032	0.0027	0.0045	0.0027	0.0027	0.0041	0.0039	0.0008	0	0.0024	0.0101	0.0002	0.0026	0.0069	0.0045	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1994.29	35	chr16	72788113	.	TGCTGCTGCTGCTGTAGTTGCC	T	1994.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=884;ExcessHet=0;FS=6.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=-0.252;SOR=0.99	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	18	0	1	0
chr16	72788822	72788822	T	A	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A6712T:p.M2238L,ZFHX3:NM_006885:exon10:c.A9454T:p.M3152L	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0061494660246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.188e-06	2.052e-06	0	4.458e-06	1.423e-05	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.339e-07	1.773e-05	1.423e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006979	0.31682	N	0.212247	0.999494	0.47278	D	0	0.06538	N	-0.43	0.69657	T	0.73	0.02195	N	0.177	0.19055	-0.9092	0.46952	T	0.095	0.35818	T	10	0.115193754	0.21696	T	0.006149	0.16111	T	0.210	0.50028	0.146	0.04941	0.102598925029	0.09809	0.4049700985397388	0.40413	0.0869483166786	0.09809	0.648704648018	0.59802	T	0.069278	0.33668	T	-0.0262905	0.47954	T	-0.275541	0.47259	T	0.420694169184306	0.29716	T	0.756024	0.37907	T	0.22383627	0.45013	0.12761383	0.30716	0.22383627	0.45013	0.12761383	0.30715	-1.357	0.01496	T	.	.	0.102	0.18037	B	.;.;.	.;.;.	3.650322	0.51800	23.1	0.89397701998639656	0.18762	0.88852	0.48983	D	AEFDGBCIJ	.	.	.	-0.421443957178461	0.24719	1.336702	-0.109012581033826	0.35026	2.021548	0.999999999973661	0.74766	0.744818	0.98587	0	0.743671	0.97443	0	0.493711	0.08198	1	0.76194	0.99817	0	.	.	5.89	5.89	0.94758	4.381000	0.59354	6.232000	0.55228	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.308	0.82689	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3913.33	35	chr16	72788822	.	T	A	3913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.904;DP=929;ExcessHet=0;FS=2.355;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-1.771;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1220:.	18	0	1	0
chr16	72795121	72795121	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.G4819A:p.A1607T,ZFHX3:NM_006885:exon9:c.G7561A:p.A2521T	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0357544670122	0.0002	.	9.088e-05	0	0	0	0	4.507e-05	0	0.0005	7.76e-05	12	154602	rs140414544	5.883e-05	5.883e-05	6.806e-05	4.95e-05	0.0003	4.876e-05	4.496e-05	0.0001	0.0001	2.987e-05	0	0	2.519e-05	0	0.0003	5.486e-05	3.311e-05	0.0002	5.949e-05	5.92e-05	2.581e-05	9.484e-05	0.0006	3.094e-05	2.222e-05	0.0002	9.104e-05	0	0	0	0.0003	0	0	0	7.361e-05	0	0.0006	0.129	0.28900	T	0.864	0.03371	T	1.0	0.90584	D	0.995	0.83170	D	0.000214	0.47681	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.79	0.73739	T	0.48	0.03639	N	0.488	0.56058	-0.4645	0.69916	T	0.384	0.74024	T	10	0.19941542	0.35949	T	0.035754	0.56553	D	0.287	0.60574	.	.	0.0675242888579	0.06100	0.2991395058947326	0.29826	0.0902169149404	0.10174	0.675239801407	0.63587	T	0.067	0.33087	T	-0.168624	0.25443	T	-0.163837	0.58004	T	0.16489792252502	0.18226	T	0.813919	0.46746	T	0.06766751	0.14674	0.088994496	0.20784	0.06766751	0.14673	0.088994496	0.20783	-4.624	0.32472	T	.	.	0.091	0.13315	B	.;.;.	.;.;.	4.184893	0.63024	24.5	0.91382168091454086	0.20648	0.95236	0.63943	D	AEFDBCI	0.628802	0.61076	D	0.423207056826892	0.62700	4.490365	0.481088321475593	0.66739	4.99129	0.999999999999166	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.587000	0.67204	0.788000	0.21542	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.895000	0.43227	0.0:1.0:0.0:0.0	19.173	0.93576	182	0.92924	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1176.33	38	chr16	72795121	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.617;DP=1081;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.077;SOR=0.866	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1190,0,1340	18	0	1	0
chr16	72797656	72797656	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.A2284G:p.S762G,ZFHX3:NM_006885:exon9:c.A5026G:p.S1676G	.	414	1105	3	0	0	3	0.00135563	.	.	.	3206539	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.00579073	0.0022	0.0157	0.0025	0	0.0005	0.0009	0	0.0002	0.0021216	328	154602	rs147120168	0.0011	0.0011	0.0011	0.0010	0.0132	0.0010	0.0010	0.0122	0.0118	0.0132	0.0031	3.826e-05	0	0.0009	0.0033	0.0007	0.0019	0.0002	0.0052	0.0052	0.0052	0.0052	0.0148	0.0049	0.0048	0.0138	0.0134	0.0148	0.0088	0.0050	0	0	0.0006	0	0.0012	0.0043	0.0004	0.42	0.09836	T	0.216	0.29540	T	0.0	0.02946	B	0.0	0.01387	B	0.000718	0.42254	D	0.103387	0.999058	0.21670	N	1.04	0.26193	L	-0.79	0.73739	T	-0.34	0.12661	N	0.116	0.10483	-1.0404	0.17192	T	0.068	0.27947	T	10	0.0032629967	0.00056	T	.	.	.	0.087	0.25287	.	.	0.193917141947	0.19028	0.2186293287284463	0.21778	0.0854028739893	0.09651	0.321195274591	0.13603	T	0.067483	0.33214	T	-0.514472	0.00473	T	-0.499456	0.22405	T	0.00458365235235999	0.00049	T	0.59804	0.22456	T	0.040137988	0.05673	0.0412651	0.04651	0.054494403	0.10463	0.046428867	0.06470	-3.954	0.23878	T	.	.	0.065	0.01834	B	.;.;.	.;.;.	1.268138	0.16667	12.69	0.57159750480157467	0.05708	0.85857	0.45039	D	AEFDBCIJ	0.127725	0.24521	N	-0.85766530238967	0.11862	0.5748349	-0.707940825873626	0.16763	0.8882998	0.98762417235289	0.31307	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	3.49	0.39065	1.017000	0.29591	0.670000	0.20585	0.651000	0.53179	0.497000	0.26932	0.476000	0.25077	0.389000	0.26536	0.0:0.2007:0.0:0.7993	9.419	0.37700	175	0.93230	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2730.33	209	chr16	72797656	.	T	C	2730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.334;DP=1215;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.13;SOR=0.758	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr16	72957816	72957816	A	0	exonic	ZFHX3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	75898.5	208	chr16	72957816	.	A	*	75898.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=3216;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=25.15;ReadPosRankSum=-0.641;SOR=0.735	GT:AD:DP:GQ:PL	0/0:0,0:158:99:5049,5075,5665	18	0	1	0
chr16	72958417	72958417	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G1729A:p.V577I	.	409	1109	4	0	0	4	0.00180018	.	.	.	2338847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.00930708754435	0.0012	0.000199681	0.0008	0.0004	0	0	0.0002	0.0011	0	0.0012	0.0006792	105	154602	rs62640001	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0012	0.0013	0.0013	0.0003	0.0004	0.0024	0.0003	9.36e-05	0.0005	0.0014	0.0014	0.0006	0.0008	0.0008	0.0009	0.0006	0.0015	0.0007	0.0006	0.0010	0.0010	0.0003	0	0.0005	0.0017	0.0002	0	0	0.0012	0.0009	0.0015	0.027	0.46513	D	0.339	0.18071	T	0.001	0.07471	B	0.001	0.04355	B	0.012115	0.29287	N	0.155671	1	0.81001	D	0	0.06538	N	-0.81	0.73949	T	-0.64	0.18670	N	0.087	0.06454	-0.8787	0.49864	T	0.184	0.53209	T	10	0.01386869	0.00293	T	0.009307	0.24436	T	0.158	0.41098	.	.	0.158540857583	0.15491	0.15205028807213863	0.15127	0.0767623305117	0.08620	0.53450858593	0.43669	T	0.079993	0.36259	T	-0.530053	0.00384	T	-0.574694	0.15021	T	0.00677283953156592	0.00076	T	0.661834	0.27067	T	0.066652246	0.14361	0.07268975	0.15711	0.066652246	0.14361	0.07268975	0.15711	-4.274	0.27811	T	.	.	0.081	0.08033	B	.;.	.;.	1.744537	0.22197	15.52	0.92482147291841899	0.21913	0.83292	0.42421	D	AEFDBI	0.153939	0.27888	N	-0.257775362820879	0.30793	1.720406	-0.0699332887635896	0.36639	2.134866	0.999505197672724	0.40062	0.562547	0.31514	0	0.546412	0.12157	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.04	4.09	0.47038	1.638000	0.36780	1.440000	0.26519	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1506:0.6945:0.0:0.1549	6.162	0.19584	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2120.33	73	chr16	72958417	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=1192;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.051;SOR=0.9	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr16	74391811	74391811	C	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon7:c.C1063A:p.P355T	.	402	1114	6	0	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00508164061134	.	.	0.0008	0.0002	8.859e-05	0	0	0	0.0011	0.0059	0.0006468	100	154602	rs770929934	0.0002	0.0003	0.0001	0.0003	0.0038	0.0002	0.0002	0.0034	0.0033	2.99e-05	2.244e-05	0	0	0	0	2.7e-06	0.0003	0.0038	0.0002	0.0003	0.0001	0.0003	0.0042	0.0001	0.0001	0.0028	0.0023	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0042	0.003	0.68238	D	0.287	0.21210	T	.	.	.	.	.	.	.	.	.	.	0.999869	0.19989	N	.	.	.	0.24	0.59583	T	-3.41	0.67129	D	0.08	0.05542	-1.0174	0.24560	T	0.083	0.32556	T	8	0.0070266724	0.00160	T	0.005082	0.12877	T	0.057	0.16321	.	.	0.167679373172	0.16340	0.020914965156666313	0.02044	0.301826712616	0.32518	.	.	.	0.062392	0.31904	T	-0.442323	0.01253	T	-0.407877	0.32469	T	0.0635043826684589	0.07708	T	0.514049	0.16524	T	0.12680362	0.29690	0.16435306	0.38077	0.12680362	0.29690	0.16435306	0.38076	-4.997	0.36808	T	.	.	0.096	0.15206	B	.	.	1.488260	0.19146	14.11	0.91035757297523001	0.20287	0.00620	0.02740	N	AEFBI	0.056817	0.10534	N	-0.895406994819504	0.10951	0.5259393	-1.10547251405674	0.07595	0.370048	2.69290392077344E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	.	.	.	0.064000	0.14310	-1.274000	0.05845	0.078000	0.17572	0.032000	0.20554	0.001000	0.17328	0.035000	0.13729	0.0:0.505:0.0:0.495	2.664	0.04729	704	0.57414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1123.33	423	chr16	74391811	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=5606;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-0.082;QD=3.7;ReadPosRankSum=-2.279;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:369,0:369:99:.:.:0,120,1800:.	18	0	1	0
chr16	74412220	74412220	C	T	exonic	CLEC18B	.	nonsynonymous SNV	CLEC18B:NM_001385195:exon6:c.G571A:p.G191S,CLEC18B:NM_001011880:exon7:c.G811A:p.G271S,CLEC18B:NM_001385193:exon7:c.G811A:p.G271S,CLEC18B:NM_001385194:exon7:c.G571A:p.G191S,CLEC18B:NM_001385192:exon8:c.G811A:p.G271S	.	552	965	5	0	0	5	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	.	.	.	0.0009	0.0021	0	0	0.1667	0	0	0	1.94e-05	3	154602	rs778849822	0.0001	0.0005	0.0001	0.0001	0.0011	9.499e-05	9.01e-05	0.0008	0.0007	0.0011	7.609e-05	7.915e-05	0	0.0006	0.0002	4.384e-05	0.0002	0.0003	0.0005	0.0013	0.0005	0.0005	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0	0	0.0002	0.0013	0	2.943e-05	0.0019	0.0002	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.992977	0.41798	D	2.455	0.71248	M	1.19	0.37578	T	-2.87	0.60348	D	0.643	0.77132	-0.9441	0.41960	T	0.137	0.45356	T	10	0.0063061416	0.00142	T	.	.	.	0.377	0.69527	.	.	0.0666544352282	0.05500	0.4660329860893548	0.46522	.	.	0.629212737083	0.57033	T	0.12052	0.44281	T	-0.0404569	0.45880	T	-0.29589	0.45157	T	0.090072830428945	0.11227	T	0.892211	0.63238	D	0.37819257	0.59186	0.38424632	0.63370	0.37819257	0.59186	0.38424632	0.63370	-12.278	0.86178	D	.	.	0.312	0.57769	B	.;.;.;.	.;.;.;.	4.880005	0.80021	27.2	0.99797190178743911	0.88194	0.94067	0.60012	D	AEFBI	0.621862	0.60640	D	0.343092096213623	0.58374	4.009408	0.259169240751705	0.53173	3.487549	0.0795629507884838	0.15821	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.28	3.28	0.36691	6.181000	0.71922	5.852000	0.50347	0.301000	0.18947	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.0:1.0:0.0:0.0	9.929	0.40676	708	0.56926	EGF-like domain;EGF-like domain;EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	57.94	5	chr16	74412220	.	C	T	57.94	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=150;ExcessHet=0;FS=0;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.028;MQ=28.6;MQRankSum=0;QD=14.49;ReadPosRankSum=0.674;SOR=0.148	GT:AD:DP:GQ:PL	0/0:9,0:9:21:0,21,315	17	0	1	1
chr16	74675058	74675058	C	T	exonic	MLKL	.	nonsynonymous SNV	MLKL:NM_001142497:exon5:c.G659A:p.R220Q,MLKL:NM_152649:exon10:c.G1283A:p.R428Q	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.00239617	0.0014	0	0	0.0001	0	3.012e-05	0	0.0099	0.0012031	186	154602	rs555966640	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0002	3.237e-05	0.0006	0.0080	0.0003	0.0003	0.0002	0.0005	0.0085	0.0002	0.0002	0.0064	0.0057	9.623e-05	0	0	0	0	0	0	5.88e-05	0	0.0085	0.3	0.24661	T	0.318	0.25987	T	0.795	0.44777	P	0.081	0.28987	B	0.098386	0.19983	N	0.493810	1	0.08975	N	1.135	0.28956	L	0.98	0.82347	T	-0.5	0.22508	N	0.207	0.28498	-0.6143	0.64225	T	0.350	0.71415	T	10	0.0042817295	0.00086	T	.	.	.	0.082	0.23913	.	.	0.638037674236	0.63506	0.23746737400942539	0.23661	0.0195968451124	0.01924	0.205800965428	0.00645	T	0.147	0.48427	T	-0.446473	0.01185	T	-0.407565	0.32507	T	0.0123460373218113	0.00201	T	0.528747	0.18617	T	0.18465531	0.39791	0.14848736	0.35098	0.18465531	0.39791	0.14848736	0.35097	-2.932	0.27612	T	.	.	0.069	0.07937	B	.;.	.;.	-1.074248	0.00672	0.019	0.73872005436261312	0.10486	0.01182	0.04236	N	AEFBI	0.047607	0.08034	N	-0.909511165109099	0.10618	0.5082996	-1.0276405207943	0.09179	0.4552631	0.736789145841922	0.23144	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.83	0.417	0.15639	-1.003000	0.03792	-12.432000	0.00525	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5793:0.0:0.4207	7.320	0.25695	555	0.71762	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1561.33	34	chr16	74675058	.	C	T	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=790;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.655;SOR=0.916	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1398	18	0	1	0
chr16	74678936	74678936	C	A	exonic	MLKL	.	nonsynonymous SNV	MLKL:NM_152649:exon7:c.G1001T:p.S334I	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.0635231073118	.	0.00159744	0.0008	0	0	0	0.0002	0	0	0.0059	0.0006921	107	154602	rs535912872	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0066	0.0003	0.0003	6.423e-05	0.0006	0.0091	0.0002	0.0002	0.0070	0.0062	4.81e-05	0	0	0	0	0	0	0	0	0.0091	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.981682	0.81001	D	3.33	0.90841	M	-3.32	0.93882	D	-5.6	0.86608	D	0.713	0.71587	1.086	0.99071	D	0.930	0.97699	D	10	0.035286605	0.01770	T	0.063523	0.68994	D	0.769	0.92212	0.793	0.91438	0.952830683834	0.95233	0.6787404119516826	0.67813	0.155226760159	0.17521	0.61340045929	0.54797	T	0.478807	0.80848	T	0.00878688	0.52859	T	0.242596	0.85271	D	0.283517887252081	0.24319	T	0.530047	0.17581	T	0.8675488	0.88668	0.70776683	0.82767	0.8675488	0.88670	0.70776683	0.82768	-11.237	0.80942	D	.	.	0.781	0.76403	P	.	.	3.683923	0.52454	23.2	0.99463751777373233	0.65944	0.89819	0.50534	D	AEFDBI	0.250846	0.37082	N	0.760122544552012	0.83563	8.050161	0.601555362022738	0.75052	6.242918	0.999975379439387	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	3.878000	0.55843	4.788000	0.44881	0.580000	0.29708	0.995000	0.38783	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	14.595	0.67996	555	0.71762	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1067.33	35	chr16	74678936	.	C	A	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.504;DP=763;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.285;SOR=0.744	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1291	18	0	1	0
chr16	75223547	75223547	G	A	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon5:c.G415A:p.V139M,CTRB1:NM_001906:exon5:c.G415A:p.V139M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.118880216692	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760194841	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0.0002	0	3.218e-05	0	0	0.0002	0.0002	0.0002	0.0002	9.79e-05	0.0001	0.0002	0.0006	8.376e-05	6.495e-05	9.866e-05	7.025e-05	4.56e-05	0	0	0	0	0	0	0.0002	0.0024	0.0006	0.049	0.39820	D	0.06	0.51737	T	0.998	0.73220	D	0.789	0.57669	P	0.000003	0.62929	U	0.000000	0.999997	0.58761	D	.	.	.	-3.35	0.94022	D	-2.25	0.50337	N	0.203	0.22486	0.615	0.92097	D	0.851	0.95028	D	10	0.45356888	0.58850	T	0.11888	0.79904	D	0.602	0.84291	.	.	0.661158103666	0.65831	0.802916900648018	0.80245	3.01023712014	0.99228	0.585914552212	0.50919	T	0.509993	0.82657	D	0.116786	0.66048	D	-0.0700214	0.65625	T	0.348098188638687	0.26944	T	0.808619	0.56255	T	0.3773615	0.59125	0.34970495	0.60591	0.3773615	0.59125	0.34970495	0.60590	-11.347	0.81527	D	.	.	0.724	0.76050	P	.;.	.;.	2.675188	0.34885	19.75	0.88929914248130393	0.18371	0.76210	0.37360	D	AEFGI	0.154320	0.27932	N	0.125377714849411	0.47648	2.98767	-0.097319716779103	0.35501	2.054631	0.430088772927642	0.20364	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.58	0.234	0.14661	1.356000	0.33683	0.866000	0.22272	0.656000	0.54149	0.963000	0.33788	0.286000	0.24137	0.773000	0.36634	0.3505:0.0:0.5088:0.1407	5.067	0.13925	846	0.36215	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	261.33	24	chr16	75223547	.	G	A	261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=18.67;ReadPosRankSum=0.212;SOR=1.765	GT:AD:DP:GQ:PL	0/0:17,0:17:48:0,48,720	18	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	915.33	33	chr16	75224755	.	G	C	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=724;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.374;SOR=0.387	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1094	18	0	1	0
chr16	75264387	75264387	C	G	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170714:exon2:c.G114C:p.E38D	.	421	1082	17	1	1	20	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00378571097736	.	0.00139776	0.0013	0	0.0070	0	0	0.0018	0	0.0010	0.000304	47	154602	rs146094747	0.0007	0.0007	0.0007	0.0008	0.0049	0.0007	0.0007	0.0035	0.0030	3.175e-05	0.0006	0.0072	0	0.0004	0.0049	0.0005	0.0014	0.0012	0.0006	0.0006	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0001	0	0.0005	0.0066	0	9.407e-05	0.0068	0.0008	0.0009	0.0004	0.162	0.23541	T	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.61	0.28391	T	-0.41	0.14000	N	0.09	0.10626	-0.9947	0.31379	T	0.023	0.09696	T	9	0.003889501	0.00074	T	0.003786	0.08806	T	0.007	0.00512	0.264	0.20946	0.305926609036	0.30200	0.4130543705503894	0.41221	0.0846322100685	0.09560	0.369872838259	0.20813	T	.	.	.	-0.544808	0.00313	T	-0.595888	0.13159	T	0.0218429660041087	0.00891	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-4.416	0.29773	T	.	.	0.081	0.36554	B	.;.	.;.	0.369741	0.07422	4.051	0.656206604311796	0.07824	0.05326	0.11178	N	AEFDGBCI	0.062952	0.12134	N	-1.20521823652541	0.04922	0.2232432	-1.23643532663601	0.05335	0.2539451	0.999999746556681	0.74766	0.03303	0.00220	3	0.541556	0.11502	0	0.633826	0.45126	0	0.249971	0.05119	0	.	.	3.98	-1.06	0.09491	-0.343000	0.07838	-0.324000	0.09941	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.4653:0.0:0.5347	6.961	0.23775	738	0.53389	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001295	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012821	0.02632	816.33	100	chr16	75264387	.	C	G	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=731;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.06;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr16	75395175	75395175	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon5:c.G565A:p.A189T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0155176344296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	2.395	0.69210	M	0.19	0.60236	T	-3.06	0.63090	D	0.761	0.75927	-0.3192	0.74444	T	0.376	0.73416	T	10	0.82347727	0.81538	D	0.015518	0.36297	T	0.274	0.59007	0.491	0.57732	0.812215987614	0.81045	0.7162876194020986	0.71571	0.099797184995	0.11272	0.669038176537	0.62701	T	0.273451	0.64589	T	0.125186	0.66890	D	-0.0579555	0.66474	T	0.958673179149628	0.65332	D	0.823718	0.48487	T	0.59784377	0.72575	0.6032163	0.76941	0.59784377	0.72576	0.6032163	0.76942	-12.196	0.85792	D	.	.	0.689	0.72511	P	.	.	5.083600	0.84853	28.4	0.99914750852495282	0.98309	0.89214	0.49545	D	AEFDBI	0.496655	0.53151	N	0.685512045899161	0.78685	6.921272	0.699554332899595	0.82342	7.744042	0.999991320616556	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	4.382000	0.59360	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.757	0.77806	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1050.33	90	chr16	75395175	.	C	T	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.594;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.186;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1425	18	0	1	0
chr16	75612364	75612364	C	T	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.G661A:p.V221I,ADAT1:NM_001324453:exon5:c.G661A:p.V221I,ADAT1:NM_001324445:exon6:c.G922A:p.V308I,ADAT1:NM_001324449:exon6:c.G922A:p.V308I,ADAT1:NM_001324451:exon6:c.G475A:p.V159I,ADAT1:NM_001324444:exon7:c.G475A:p.V159I,ADAT1:NM_001324446:exon7:c.G475A:p.V159I,ADAT1:NM_001324448:exon7:c.G922A:p.V308I,ADAT1:NM_001324450:exon7:c.G475A:p.V159I,ADAT1:NM_012091:exon7:c.G922A:p.V308I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0299778567587	.	0.000798722	0.0002	0	0	0.0022	0	1.499e-05	0.0011	0	0.000207	32	154602	rs151268456	0.0003	0.0003	0.0003	0.0003	0.0082	0.0002	0.0002	0.0075	0.0072	0	6.708e-05	0	0.0082	0	0	9.892e-06	0.0005	1.159e-05	0.0001	0.0001	0.0001	9.399e-05	0.0025	7.571e-05	6.276e-05	0.0015	0.0012	2.405e-05	0	6.533e-05	0	0.0025	0	0	0	0.0014	0	0.171	0.22746	T	0.317	0.19304	T	0.688	0.41582	P	0.307	0.41295	B	0.000817	0.41658	N	0.242242	0.999996	0.58761	D	2.24	0.63355	M	-3.62	0.95077	D	-0.21	0.10308	N	0.144	0.14480	0.341	0.88198	D	0.678	0.88874	D	10	0.022783935	0.00578	T	0.029978	0.52383	D	0.330	0.65226	.	.	0.762660517308	0.76049	0.30040524298535864	0.29953	0.0113215282385	0.01058	0.452038288116	0.32222	T	0.211169	0.57186	T	-0.191142	0.22089	T	-0.0878726	0.64322	T	0.0344903803626714	0.02721	T	0.889511	0.62170	D	0.04936929	0.08756	0.05399862	0.09204	0.04936929	0.08756	0.05399862	0.09204	-6.9	0.53299	T	.	.	0.086	0.10594	B	.	.	2.542449	0.32895	19.18	0.99583065401743398	0.73099	0.96932	0.71730	D	AEFBI	0.376553	0.46066	N	0.25029052940679	0.53653	3.533272	0.318598507468209	0.56633	3.826895	0.998732095683399	0.37559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.49	0.54177	4.796000	0.62190	1.090000	0.23972	0.599000	0.40250	1.000000	0.71638	0.557000	0.25500	0.973000	0.55318	0.0:0.9215:0.0:0.0785	12.973	0.57926	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1845.33	34	chr16	75612364	.	C	T	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.623;DP=777;ExcessHet=0;FS=3.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.662;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1369	18	0	1	0
chr16	75715056	75715056	G	T	exonic	CPHXL	.	nonsynonymous SNV	CPHXL:NM_001355613:exon3:c.C386A:p.A129D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13043222	0.24822	T	.	.	.	.	.	.	.	.	.	0.0950128666906301	0.09433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39666	0.09990	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.258	0.49304	B	.	.	0.853054	0.12254	8.795	0.73034086536527587	0.10183	0.02539	0.07057	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00113333913213609	0.08261	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.046875	0.06002	1.68	1.68	0.23219	0.362000	0.20020	0.337000	0.17343	0.368000	0.20244	0.060000	0.21767	0.030000	0.21233	0.015000	0.10482	0.0:0.0:1.0:0.0	6.808	0.22970	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	37.76	.	chr16	75715056	.	G	T	37.76	.	AC=2;AF=0.1;AN=20;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=0.3159;MLEAC=2;MLEAF=0.1;MQ=60;QD=18.88;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,39	9	1	0	9
chr16	76521280	76521280	A	T	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon15:c.A2356T:p.I786F,CNTNAP4:NM_001322180:exon15:c.A2119T:p.I707F,CNTNAP4:NM_001322190:exon15:c.A2362T:p.I788F,CNTNAP4:NM_001322191:exon15:c.A1579T:p.I527F,CNTNAP4:NM_138994:exon15:c.A2287T:p.I763F,CNTNAP4:NM_001322179:exon16:c.A2506T:p.I836F,CNTNAP4:NM_001322181:exon16:c.A2503T:p.I835F,CNTNAP4:NM_001322188:exon16:c.A2506T:p.I836F,CNTNAP4:NM_033401:exon16:c.A2506T:p.I836F,CNTNAP4:NM_001322187:exon17:c.A1090T:p.I364F,CNTNAP4:NM_001322189:exon17:c.A2242T:p.I748F	.	428	1066	24	4	0	32	0.0147874	.	.	.	3220401	CNTNAP4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0085	0.00838658	0.0083	0.0014	0.0057	0	0.0030	0.0089	0.0067	0.0184	0.0078783	1218	154602	rs112577515	0.0098	0.0099	0.0095	0.0101	0.0179	0.0097	0.0096	0.0172	0.0169	0.0016	0.0047	0.0230	5.052e-05	0.0023	0.0085	0.0101	0.0095	0.0179	0.0072	0.0072	0.0076	0.0068	0.0222	0.0068	0.0067	0.0188	0.0175	0.0018	0.0055	0.0054	0.0268	0	0.0017	0.0034	0.0102	0.0085	0.0222	0.257	0.38185	T	0.045	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000792	0.41772	D	0.000000	0.999819	0.49394	D	.	.	.	0.98	0.42122	T	-2.8	0.59873	D	0.707	0.78641	-0.8898	0.48952	T	0.158	0.49043	T	9	0.007897258	0.00179	T	.	.	.	0.176	0.44373	.	.	0.511220899679	0.50763	0.3413844676447204	0.34051	0.198670388513	0.22245	0.700935721397	0.67278	T	0.235068	0.80064	T	-0.344023	0.05114	T	-0.252661	0.49554	T	0.0530948091124562	0.06035	T	0.927907	0.73561	D	0.19536777	0.41322	0.26874053	0.52746	0.19536777	0.41322	0.26874053	0.52745	-9.848	0.74449	D	.	.	0.222	0.50600	B	.;.;.;.;.;.	.;.;.;.;.;.	4.400139	0.67983	25.2	0.98875726085140536	0.47736	0.92171	0.55103	D	AEFI	0.397350	0.47346	N	0.353689395998628	0.58934	4.068933	0.386905460538145	0.60758	4.26694	0.00100741087992583	0.08115	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	4.861000	0.62666	10.795000	0.83776	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.844	0.69881	911	0.21964	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.004076	0.011696	0.000000	0.000000	0.015244	0.000000	0.02632	1507.33	44	chr16	76521280	.	A	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.4;DP=895;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.14;SOR=0.898	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr16	76539849	76539849	A	G	exonic	CNTNAP4	.	nonsynonymous SNV	CNTNAP4:NM_001322178:exon19:c.A3201G:p.I1067M,CNTNAP4:NM_001322179:exon19:c.A3111G:p.I1037M,CNTNAP4:NM_001322180:exon19:c.A2964G:p.I988M,CNTNAP4:NM_001322190:exon19:c.A3207G:p.I1069M,CNTNAP4:NM_001322191:exon19:c.A2424G:p.I808M,CNTNAP4:NM_138994:exon19:c.A3132G:p.I1044M,CNTNAP4:NM_001322181:exon20:c.A3348G:p.I1116M,CNTNAP4:NM_001322188:exon20:c.A3351G:p.I1117M,CNTNAP4:NM_033401:exon20:c.A3351G:p.I1117M,CNTNAP4:NM_001322187:exon21:c.A1935G:p.I645M,CNTNAP4:NM_001322189:exon21:c.A3087G:p.I1029M	.	427	1089	4	2	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	.	.	0.00539137	0.0025	0.0001	0.0023	0	0	0.0003	0.0033	0.0157	0.002238	346	154602	rs143225992	0.0011	0.0011	0.0007	0.0015	0.0151	0.0010	0.0010	0.0144	0.0141	6.332e-05	0.0011	0.0002	5.174e-05	0	0.0037	0.0001	0.0013	0.0151	0.0008	0.0008	0.0006	0.0011	0.0187	0.0007	0.0007	0.0156	0.0144	0	0	0.0008	0.0003	0	0	0	0.0003	0.0009	0.0187	0.013	0.53900	D	0.009	0.66756	D	0.002	0.19075	B	0.026	0.33616	B	0.048914	0.23209	N	0.211758	0.941438	0.27599	N	.	.	.	-1.37	0.80214	T	-1.79	0.42191	N	0.374	0.47487	-0.8214	0.53846	T	0.315	0.68486	T	9	0.008007467	0.00182	T	.	.	.	0.409	0.72099	.	.	0.414670632993	0.41079	0.32376409854409044	0.32289	0.0220140850066	0.02206	0.24808254838	0.03569	T	0.181978	0.66402	T	-0.331548	0.05995	T	-0.236049	0.51183	T	0.0254609289967372	0.01334	T	0.485551	0.14815	T	0.04306325	0.06646	0.0796648	0.17955	0.04306325	0.06646	0.0796648	0.17954	-6.888	0.53365	T	.	.	0.071	0.11124	B	.;.;.;.;.;.	.;.;.;.;.;.	0.890174	0.12639	9.162	0.91761971397726871	0.21063	0.18573	0.20316	N	AEFI	0.059070	0.11130	N	-1.10275083822039	0.06594	0.3039878	-1.19409470376828	0.06008	0.2879111	0.295668849582938	0.19135	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	-9.78	0.00413	-0.061000	0.11650	-0.657000	0.07999	-0.054000	0.16847	0.805000	0.29786	0.000000	0.08366	0.984000	0.60418	0.1999:0.4405:0.3596:0.0	10.919	0.46365	896	0.25515	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	971.33	34	chr16	76539849	.	A	G	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.383;DP=737;ExcessHet=0;FS=3.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.194;SOR=0.411	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr16	77212194	77212194	-	G	exonic	SYCE1L	.	frameshift insertion	SYCE1L:NM_001348924:exon6:c.366dupG:p.E123Gfs*21,SYCE1L:NM_001129979:exon8:c.489dupG:p.E164Gfs*21	.	401	1096	24	1	0	26	0.0117223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00179712	0.0097	0.0008	0	0	0	0.0119	0.0065	0.0109	0.0003074	8	26028	rs371551639	0.0027	0.0026	0.0025	0.0029	0.0087	0.0027	0.0026	0.0069	0.0067	0.0004	0.0014	0.0300	0	0.0002	0.0087	0.0020	0.0038	0.0073	0.0024	0.0024	0.0024	0.0025	0.0064	0.0022	0.0022	0.0047	0.0041	0.0003	0	0.0015	0.0369	0	0.0002	0.0034	0.0024	0.0033	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004474	0.013514	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.02632	657.29	33	chr16	77212194	.	C	CG	657.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=720;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.151;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1121	18	0	1	0
chr16	77212327	77212327	A	C	exonic	SYCE1L	.	nonsynonymous SNV	SYCE1L:NM_001348924:exon7:c.A416C:p.H139P,SYCE1L:NM_001129979:exon9:c.A539C:p.H180P	.	390	1116	14	2	0	18	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00259585	0.0034	0	0	0	0	0.0020	0	0.0052	0.0008068	21	26028	rs563915036	0.0008	0.0008	0.0006	0.0010	0.0065	0.0008	0.0007	0.0060	0.0058	0.0007	0.0007	0.0071	2.847e-05	4.254e-05	0.0041	0.0003	0.0014	0.0065	0.0007	0.0007	0.0006	0.0008	0.0069	0.0006	0.0005	0.0050	0.0044	4.821e-05	0.0022	0.0010	0.0058	0.0004	0	0.0103	0.0003	0.0024	0.0069	0.284	0.15303	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.608157	0.05685	U	1.615030	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.34	0.12661	N	0.068	0.04072	-1.0308	0.20195	T	0.053	0.22539	T	10	0.003554076	0.00064	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.07145139790183969	0.07082	2.51436962822E-4	0.00014	0.398789763451	0.24900	T	5.55E-4	0.00219	T	-0.559405	0.00256	T	-0.576057	0.14898	T	0.00948043332231999	0.00122	T	0.144286	0.01174	T	0.10560573	0.24970	0.11362108	0.27423	0.10560573	0.24970	0.11362108	0.27422	-3.397	0.15016	T	.	.	0.081	0.08129	B	.	.	0.939460	0.13151	9.652	0.6522926523551581	0.07714	0.04932	0.10689	N	ALL	0.066917	0.13127	N	-1.34394922683636	0.03188	0.1419939	-1.37463106260825	0.03524	0.1645718	0.999999999986809	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	2.61	0.55	0.16408	-0.064000	0.11593	0.003000	0.13321	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4696:0.0:0.5304:0.0	5.215	0.14658	859	0.33891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006458	0.013158	0.003311	0.017391	0.000000	0.000000	0.000000	0.007353	0.02632	751.33	20	chr16	77212327	.	A	C	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=530;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=0.557;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:81:.:.:0,81,892:.	18	0	1	0
chr16	77325911	77325911	A	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon13:c.T1471C:p.F491L,ADAMTS18:NM_199355:exon13:c.T1987C:p.F663L	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0142958751276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.947	0.53479	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.06	0.86941	M	3.44	0.05375	T	-5.62	0.86758	D	0.796	0.79214	-1.2158	0.00066	T	0.050	0.21104	T	10	0.7622303	0.76434	D	0.014296	0.34324	T	0.316	0.63799	0.434	0.48500	0.572106025898	0.56878	0.7464956366615013	0.74595	.	.	0.726357877254	0.70974	T	0.160856	0.50487	T	0.102877	0.64601	D	-0.090001	0.64162	T	0.995196282863617	0.86995	D	0.972453	0.90064	D	0.74087036	0.80342	0.70502734	0.82612	0.74087036	0.80344	0.70502734	0.82613	-10.384	0.76178	D	.	.	0.996	0.95780	P	.	.	5.006881	0.83121	28.0	0.99915719953452664	0.98379	0.99289	0.94010	D	AEFI	0.922517	0.89762	D	0.749055102769343	0.82844	7.864004	0.782240955505612	0.88531	9.61769	0.999999999863477	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.99	5.99	0.97299	9.325000	0.96006	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.675	0.77072	771	0.49057	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2493.33	34	chr16	77325911	.	A	G	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.465;DP=811;ExcessHet=0;FS=3.367;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.69;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	18	0	1	0
chr16	77431352	77431352	C	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon3:c.G438C:p.Q146H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1511	8	3	0	14	0.00461133	.	.	.	726800	not_provided|ADAMTS18-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0115497590187	0.0005	0.000798722	0.0011	0.0003	0.0009	0	0.0002	0.0017	0	0.0005	0.0011319	175	154602	rs151326659	0.0013	0.0013	0.0014	0.0013	0.0029	0.0013	0.0013	0.0019	0.0015	0.0003	0.0007	0.0042	0	0	0.0029	0.0015	0.0017	0.0006	0.0011	0.0011	0.0011	0.0011	0.0016	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0012	0.0037	0	0.0003	0.0170	0.0016	0.0024	0.0008	0.174	0.22486	T	0.28	0.21678	T	0.197	0.29559	B	0.302	0.41118	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.39	0.34934	L	3.38	0.05778	T	-1.96	0.45404	N	0.785	0.78167	-0.9722	0.36734	T	0.022	0.09330	T	10	0.033701003	0.01553	T	0.01155	0.29287	T	0.206	0.49396	0.7	0.83684	0.366085729538	0.36220	0.7301263247287595	0.72957	.	.	0.525219380856	0.42362	T	0.013767	0.11844	T	-0.3013	0.08537	T	-0.224588	0.52295	T	0.0287866072438054	0.01804	T	0.829517	0.49484	T	0.46524575	0.64997	0.34740004	0.60394	0.46524575	0.64998	0.34740004	0.60394	-2.818	0.08350	T	.	.	0.308	0.53633	B	.	.	3.719934	0.53157	23.3	0.99545047882362958	0.70773	0.79266	0.39246	D	AEFDBHCI	0.714883	0.66722	D	0.143320345137353	0.48496	3.06117	0.320317106865729	0.56736	3.837303	0.999999998065019	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.657636	0.52715	0	0.71	0.69187	0	.	.	6.03	6.03	0.97798	2.267000	0.42986	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	12.800	0.56959	878	0.29785	Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.010101	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	805.33	34	chr16	77431352	.	C	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.234;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.879;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1331	18	0	1	0
chr16	77735485	77735485	C	T	exonic	NUDT7	.	nonsynonymous SNV	NUDT7:NM_001243660:exon3:c.C281T:p.A94V	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	.	0.0016	0	0	7.76e-05	12	154602	rs570753811	0.0006	0.0006	0.0008	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0001	0	0	0	0.0030	0	0.0007	0.0004	0	0.0005	0.0005	0.0004	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	0.0003	0	0	0	0	0.0026	0	0.0006	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	0.008520663	0.00193	T	.	.	.	.	.	.	.	0.260735089382	0.25697	.	.	.	.	.	.	.	0.049374	0.28290	T	-0.412723	0.01907	T	-0.46071	0.26521	T	.	.	.	0.50475	0.15921	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09723	B	.	.	0.041143	0.04573	1.254	0.8035547260192456	0.13164	0.00227	0.01275	N	AEFBI	.	.	.	.	.	.	.	.	.	0.653267836753631	0.22187	0.074636	0.01641	0	0.060609	0.00678	0	0.078618	0.02440	0	0.057018	0.00518	0	0.0844166	0.19275	0.235	0.235	0.14697	-0.642000	0.05524	-3.615000	0.02656	-0.569000	0.04791	0.043000	0.21118	0.000000	0.08366	0.014000	0.10232	.	.	.	960	0.08626	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	183.33	20	chr16	77735485	.	C	T	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=530;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.466;SOR=1.179	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1068	18	0	1	0
chr16	78022661	78022661	T	G	exonic	CLEC3A	.	nonsynonymous SNV	CLEC3A:NM_005752:exon1:c.T35G:p.V12G	.	434	1082	4	2	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0158925621706	.	.	0.0001	0	8.673e-05	0	0	3.002e-05	0.0011	0.0007	9.7e-05	15	154602	rs760496672	9.166e-05	9.166e-05	6.806e-05	0.0001	0.0009	7.89e-05	7.365e-05	0.0007	0.0007	0	0	3.826e-05	0	1.872e-05	0.0002	4.406e-05	6.623e-05	0.0009	4.598e-05	4.593e-05	1.285e-05	8.06e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.010079	0.30079	N	0.289408	0.999197	0.46300	D	.	.	.	3.04	0.08810	T	.	.	.	0.44	0.47857	-0.9799	0.35025	T	0.130	0.43968	T	9	0.06961158	0.10013	T	0.015893	0.36869	T	0.099	0.28413	.	.	0.18995819373	0.18626	.	.	0.00224187038655	0.00188	0.383359611034	0.22732	T	.	.	.	-0.369609	0.03614	T	-0.397609	0.33663	T	0.335046827793121	0.26427	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.069941	0.60461	24.2	0.99240312211607939	0.56533	0.95699	0.65780	D	AEFDBI	0.557926	0.56735	D	-0.0565258205195075	0.39311	2.316164	0.111590079757284	0.45140	2.782553	0.920310567306153	0.26628	0.553676	0.25195	0	0.573888	0.26702	0	0.596394	0.31383	0	0.620846	0.47308	0	.	.	5.71	4.6	0.56512	5.256000	0.65286	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1314:0.0:0.0:0.8686	11.830	0.51565	853	0.34956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	137	chr16	78022661	.	T	G	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.431;DP=785;ExcessHet=0;FS=4.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.411;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1244	18	0	1	0
chr16	79599342	79599344	GTG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.559_561del:p.H187del,MAF:NM_005360:exon1:c.559_561del:p.H187del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	117	1390	11	1	3	16	0.00465449	.	.	.	363684	MAF-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0336	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1057520061	0.0002	0.0075	0.0002	0.0002	0.0018	0.0002	0.0002	0.0008	0.0006	0.0003	0.0014	0.0002	0.0018	0.0022	0	0.0002	0.0003	0.0003	6.873e-06	0.0001	0	1.415e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140704	0.085366	0.173913	0.054054	0.500000	0.000000	0.256410	0.080000	0.02941	290.56	5	chr16	79599341	.	CGTG	C	290.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.277;DP=133;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.0952;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.28;SOR=0.818	GT:AD:DP:GQ:PL	0/1:13,2:15:45:45,0,537	16	0	1	2
chr16	79599341	79599341	-	GTG	exonic	MAF	.	nonframeshift insertion	MAF:NM_001031804:exon1:c.561_562insCAC:p.H187_A188insH,MAF:NM_005360:exon1:c.561_562insCAC:p.H187_A188insH	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029898670	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0015	0.0013	0	0	0	0.0003	0	0.0006	9.257e-05	0.0002	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0.0001	0	0.0002	0	0.0006	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	290.56	5	chr16	79599341	.	C	CGTG	290.56	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.277;DP=133;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.0952;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.28;SOR=0.818	GT:AD:DP:GQ:PL	0/0:13,0:15:45:45,84,627	16	0	1	2
chr16	80684984	80684984	C	A	exonic	CDYL2	.	nonsynonymous SNV	CDYL2:NM_152342:exon2:c.G170T:p.G57V	.	420	1056	45	1	0	47	0.0217693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0034	0.00319489	0.0052	0.0007	0.0037	0.0001	0.0005	0.0047	0.0055	0.0156	0.0047477	734	154602	rs148308758	0.0046	0.0046	0.0042	0.0051	0.0165	0.0045	0.0045	0.0149	0.0146	0.0005	0.0048	0.0114	0	0.0003	0.0165	0.0040	0.0060	0.0156	0.0034	0.0035	0.0034	0.0034	0.0098	0.0032	0.0031	0.0076	0.0068	0.0009	0	0.0073	0.0124	0.0002	0.0006	0.0034	0.0039	0.0061	0.0098	0.084	0.32929	T	0.186	0.28860	T	0.464	0.36423	P	0.471	0.46788	P	0.000001	0.84330	D	0.057409	1	0.81001	D	0.69	0.16971	N	1.0	0.41392	T	-1.52	0.36980	N	0.519	0.55626	-0.9628	0.38645	T	0.079	0.31435	T	10	0.00868392	0.00197	T	.	.	.	.	.	.	.	0.221890330934	0.21812	0.33187914881676656	0.33100	0.703137444835	0.61250	0.513815522194	0.40756	T	0.307381	0.67953	T	-0.319419	0.06945	T	-0.218626	0.52870	T	0.0222606018164842	0.00939	T	0.888211	0.64041	D	0.6573661	0.75758	0.38849276	0.63692	0.6573661	0.75759	0.38849276	0.63692	-3.818	0.21074	T	.	.	0.144	0.59205	B	.;.;.;.	.;.;.;.	3.807021	0.54888	23.5	0.99603623835571997	0.74338	0.98610	0.84669	D	AEFDGBI	0.813955	0.73630	D	0.248507690084439	0.53564	3.524829	0.375001167766425	0.60028	4.186012	0.999988208958161	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.741000	0.61790	7.357000	0.58325	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	17.649	0.88060	952	0.10565	Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.015152	0.016304	0.008772	0.000000	0.008621	0.012195	0.037879	0.05263	4360.83	45	chr16	80684984	.	C	A	4360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.251;DP=1152;ExcessHet=0.119;FS=0.37;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.385;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr16	81044660	81044660	G	T	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.G1694T:p.G565V,ATMIN:NM_015251:exon4:c.G2162T:p.G721V	.	419	1072	30	1	0	32	0.0147059	.	.	.	2817835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.182	0.0285652153604	0.0028	0.000998403	0.0028	0.0004	0.0017	0	0.0003	0.0026	0.0044	0.0082	0.0026132	404	154602	rs142359892	0.0032	0.0032	0.0030	0.0034	0.0149	0.0031	0.0031	0.0124	0.0114	0.0002	0.0018	0.0039	5.038e-05	0.0004	0.0149	0.0031	0.0026	0.0093	0.0022	0.0022	0.0022	0.0023	0.0072	0.0020	0.0020	0.0054	0.0047	0.0006	0.0011	0.0033	0.0035	0	0.0002	0	0.0031	0.0028	0.0072	0.001	0.78490	D	0.007	0.69154	D	0.926	0.51467	P	0.556	0.49411	P	0.000496	0.43931	D	0.264010	1	0.81001	D	2.255	0.64187	M	1.33	0.35031	T	-2.37	0.55983	N	0.625	0.63968	-0.8028	0.54979	T	0.132	0.44425	T	10	0.0107753575	0.00238	T	0.028565	0.51224	D	0.182	0.45420	.	.	0.390060412749	0.38622	0.46531616243243623	0.46450	0.163159783007	0.18410	0.529859542847	0.43014	T	0.59588	0.86976	D	-0.356533	0.04330	T	-0.278938	0.46914	T	0.0609026694323908	0.07310	T	0.884312	0.60710	D	0.22300273	0.44911	0.38960963	0.63777	0.22300273	0.44911	0.38960963	0.63776	-4.925	0.40707	T	.	.	0.234	0.53656	B	.;.;.	.;.;.	3.426534	0.47601	22.5	0.99463795725583259	0.65944	0.97813	0.77322	D	AEFDGBI	0.546780	0.56074	D	0.46586975631541	0.65109	4.781305	0.444916873534928	0.64391	4.693239	0.957404612360049	0.28302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	2.8	0.31881	5.651000	0.67625	5.650000	0.49179	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0666:0.2421:0.6913:0.0	12.354	0.54492	686	0.59327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.009511	0.008772	0.000000	0.017241	0.012195	0.003788	0.02632	3143.33	36	chr16	81044660	.	G	T	3143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=1032;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=13.97;ReadPosRankSum=0.481;SOR=0.965	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr16	81044863	81044863	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.A1897G:p.M633V,ATMIN:NM_015251:exon4:c.A2365G:p.M789V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0118436730247	.	.	2.472e-05	0	0	0.0002	0	1.499e-05	0	0	4.53e-05	7	154602	rs761128611	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.292	0.20877	T	0.024	0.19075	B	0.009	0.14300	B	0.000003	0.62929	N	0.159893	0.741314	0.33825	D	0.695	0.17993	N	1.42	0.33189	T	-0.92	0.25986	N	0.265	0.30004	-1.0089	0.27261	T	0.076	0.30645	T	10	0.1200569	0.22733	T	0.011844	0.29861	T	0.077	0.22490	0.598	0.72862	0.16115917748	0.15686	0.5238903073207397	0.52313	0.0381085968412	0.04051	0.589901268482	0.51480	T	0.156982	0.49938	T	-0.345787	0.04997	T	-0.508774	0.21441	T	0.0695265587545538	0.08584	T	0.790821	0.43180	T	0.15919913	0.35774	0.20226859	0.44247	0.15919913	0.35773	0.20226859	0.44246	-3.517	0.16671	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	1.862018	0.23653	16.10	0.91404014087027186	0.20671	0.94229	0.60507	D	AEFGBI	0.193071	0.32020	N	-0.12229710891516	0.36423	2.105107	0.0125284418010773	0.40295	2.402548	0.616912311621748	0.21851	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	3.67	0.41236	5.308000	0.65557	4.758000	0.44698	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.7418:0.2582:0.0:0.0	12.797	0.56946	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	36	chr16	81044863	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.911;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr16	81061729	81061729	G	A	exonic	C16orf46	.	nonsynonymous SNV	C16orf46:NM_001100873:exon3:c.C620T:p.A207V,C16orf46:NM_152337:exon4:c.C620T:p.A207V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0107791047062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.61642	D	0.999	0.77913	D	0.974	0.73157	D	0.005746	0.32538	N	0.216348	0.951355	0.37735	D	2.015	0.55033	M	2.06	0.20523	T	-2.73	0.58085	D	0.337	0.39356	-1.0768	0.07983	T	0.098	0.36651	T	10	0.34564552	0.51534	T	0.010779	0.27705	T	0.180	0.45073	0.164	0.06842	0.201204373187	0.19734	0.25213300241353903	0.25127	0.102958494008	0.11647	.	.	.	0.021963	0.17012	T	-0.0734052	0.40780	T	-0.343218	0.39981	T	0.905658364295959	0.55946	D	0.812119	0.46368	T	0.17469977	0.38288	0.1406279	0.33516	0.17469977	0.38288	0.1406279	0.33515	-4.408	0.29665	T	.	.	0.306	0.53472	B	.;.	.;.	3.526666	0.49461	22.8	0.99880837872198425	0.95733	0.95164	0.63673	D	AEFDBI	0.433055	0.49467	N	0.507007066082718	0.67502	5.09039	0.502083746781657	0.68132	5.177895	0.999996850777417	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	5.121000	0.64530	5.121000	0.47587	0.676000	0.76740	0.996000	0.39380	0.980000	0.30356	0.005000	0.06747	0.0:0.0:1.0:0.0	17.297	0.87059	674	0.60593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2683.33	170	chr16	81061729	.	G	A	2683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.629;DP=1997;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-0.895;SOR=0.654	GT:AD:DP:GQ:PL	0/0:145,0:145:99:0,120,1800	18	0	1	0
chr16	81101254	81101254	G	C	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0005	0.0001	0.0002	0	0.0002	0.0008	0	0	0.0004528	70	154602	rs200781895	0.0007	0.0007	0.0007	0.0007	0.0012	0.0007	0.0006	0.0008	0.0008	8.962e-05	0.0005	0.0005	2.52e-05	0.0001	0.0012	0.0008	0.0006	2.32e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0009	0.0006	0	0	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1095.33	33	chr16	81101254	.	G	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=701;ExcessHet=0;FS=5.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.729;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	18	0	1	0
chr16	81159717	81159717	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	420	1088	12	2	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0301518	0.0229	0.0019	0.1150	0.0767	0.0002	0.0006	0.0210	0.0471	0.0178329	2757	154602	rs75485939	0.0064	0.0065	0.0059	0.0070	0.0800	0.0063	0.0063	0.0778	0.0769	0.0017	0.0800	0.0002	0.0432	0.0004	0.0029	0.0004	0.0087	0.0366	0.0085	0.0085	0.0077	0.0093	0.0610	0.0081	0.0080	0.0554	0.0533	0.0020	0	0.0410	0.0006	0.0610	0	0	0.0003	0.0166	0.0431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	1467.33	37	chr16	81159717	.	G	A	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=899;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.097;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1241	18	0	1	0
chr16	81164734	81164734	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	52	chr16	81164734	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=771;ExcessHet=0;FS=4.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.689;SOR=1.267	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1121	18	0	1	0
chr16	81171050	81171050	G	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon6:c.C748G:p.L250V,PKD1L2:NM_001076780:exon17:c.C2803G:p.L935V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0126038279376	.	0.00159744	0.0013	0	8.675e-05	0	0	3.012e-05	0.0011	0.0091	0.0010996	170	154602	rs201282019	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	0	0	0	0	0	0.0005	6.295e-06	0.0005	0.0092	0.0002	0.0002	6.426e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	.	.	.	.	.	.	1.0	0.90584	D	0.997	0.86255	D	0.003060	0.35512	N	0.215534	0.993145	0.23764	N	.	.	.	1.94	0.22678	T	-1.55	0.37955	N	0.621	0.63628	-0.9873	0.33273	T	0.131	0.44228	T	9	0.008598238	0.00195	T	0.012604	0.31316	T	0.072	0.21020	.	.	0.264547087235	0.26054	.	.	.	.	0.325211524963	0.14209	T	.	.	.	-0.374649	0.03365	T	-0.3034	0.44364	T	0.202192527298391	0.20536	T	0.570643	0.20320	T	.	.	.	.	.	.	.	.	-4.962	0.36425	T	.	.	0.163	0.35910	B	.;.	.;.	2.108627	0.26836	17.25	0.99700711325038971	0.80591	0.52991	0.29264	D	AEFDBHCI	0.225571	0.34964	N	-0.0308405849302156	0.40463	2.403317	-0.0714249464214148	0.36577	2.130418	0.999850251423176	0.44174	0.378192	0.05888	3	0.573888	0.26702	0	0.260811	0.05139	3	0.530356	0.10902	0	.	.	4.42	4.42	0.52775	3.185000	0.50635	2.288000	0.31941	0.665000	0.62972	0.997000	0.40164	0.995000	0.32472	0.041000	0.14368	0.0:0.0:1.0:0.0	14.316	0.66006	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	952.33	52	chr16	81171050	.	G	C	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=825;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.151;SOR=0.441	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1325	18	0	1	0
chr16	81188921	81188921	C	T	exonic	PKD1L2	.	stopgain	PKD1L2:NM_001076780:exon10:c.G1749A:p.W583X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	.	0.00159744	5.796e-05	0.0006	0	0	0	0	0	6.056e-05	9.7e-05	15	154602	rs140892016	3.078e-05	3.078e-05	2.45e-05	3.713e-05	0.0009	2.347e-05	2.095e-05	0.0007	0.0006	0.0009	0	0	0	0	0.0003	2.698e-06	8.28e-05	4.637e-05	9.2e-05	9.188e-05	7.714e-05	0.0001	0.0003	5.528e-05	4.365e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.138629	0.18371	N	0.558894	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36534	0.87653	D	0.61701	0.97470	D	0.46539318561554	0.31362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.299122	0.97400	37	0.99506600209770868	0.68381	0.95265	0.64053	D	AEFDBI	0.049871	0.08659	N	0.684123846326335	0.78592	6.90281	0.514057864981755	0.68935	5.289221	0.999997789733686	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	4.791000	0.62154	4.412000	0.43285	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	18.323	0.90185	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1017.33	52	chr16	81188921	.	C	T	1017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=837;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-2.391;SOR=0.801	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr16	81216314	81216314	C	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon2:c.G394A:p.G132R	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0033	0.00179712	0.0035	0.0002	0.0011	0	0.0009	0.0033	0.0033	0.0109	0.0032341	500	154602	rs117142104	0.0040	0.0040	0.0038	0.0041	0.0108	0.0039	0.0039	0.0102	0.0100	0.0004	0.0024	0.0040	7.557e-05	0.0019	0.0049	0.0038	0.0041	0.0108	0.0027	0.0027	0.0024	0.0029	0.0103	0.0024	0.0024	0.0081	0.0072	0.0008	0.0011	0.0042	0.0043	0	0.0015	0.0034	0.0033	0.0019	0.0103	.	.	.	.	.	.	0.011	0.15914	B	0.007	0.12992	B	0.070159	0.02240	N	1.864710	1	0.08975	N	.	.	.	2.35	0.16217	T	-0.89	0.24026	N	0.304	0.34336	-1.0130	0.25975	T	0.025	0.10553	T	9	0.0045502484	0.00094	T	.	.	.	0.090	0.26093	0.456	0.52102	0.0666544352282	0.05500	.	.	.	.	0.238974839449	0.02699	T	.	.	.	-0.544696	0.00314	T	-0.547233	0.17593	T	0.00106614623460968	0.00010	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	-2.788	0.08073	T	.	.	0.100	0.17060	B	.	.	-0.712663	0.01291	0.069	0.75862912353876277	0.11240	0.02398	0.06797	N	AEFDBI	0.043468	0.06874	N	-1.26278037488015	0.04133	0.1859769	-1.36162422211013	0.03670	0.1717083	0.178829488382355	0.17842	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	-5.71	0.02218	-0.351000	0.07760	-6.570000	0.01363	-0.186000	0.09761	0.102000	0.22834	0.000000	0.08366	0.011000	0.09372	0.0:0.2331:0.2156:0.5513	9.345	0.37269	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.008621	0.009146	0.011364	0.05263	4180.83	34	chr16	81216314	.	C	T	4180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.18;DP=910;ExcessHet=0.119;FS=2.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.206;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1354	17	0	2	0
chr16	81908423	81908423	C	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon17:c.C1565G:p.P522R	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	433825	Familial_cold_autoinflammatory_syndrome_3|not_provided|PLCG2-related_disorder	MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0063	0.00279553	0.0051	0.0011	0.0026	0	0.0014	0.0082	0	0.0007	0.0052845	817	154602	rs72824905	0.0069	0.0069	0.0071	0.0068	0.0083	0.0068	0.0068	0.0081	0.0081	0.0010	0.0040	0.0083	0	0.0015	0.0069	0.0083	0.0056	0.0006	0.0049	0.0049	0.0055	0.0044	0.0088	0.0046	0.0045	0.0082	0.0080	0.0013	0.0088	0.0026	0.0075	0	0.0010	0.0034	0.0088	0.0052	0.0006	0.146	0.25055	T	0.523	0.11371	T	0.0	0.02946	B	0.0	0.01387	B	0.427117	0.12796	N	0.750593	1	0.08975	N	0.405	0.12330	N	-0.15	0.65192	T	-1.59	0.38345	N	0.203	0.22486	-1.0124	0.26165	T	0.096	0.36159	T	10	0.0038388371	0.00072	T	.	.	.	0.085	0.24743	.	.	0.408543089712	0.40467	0.6574157309776638	0.65678	0.28713633429	0.31114	0.338021397591	0.16141	T	0.429424	0.77823	T	-0.497736	0.00589	T	-0.477352	0.24729	T	0.00844256311956172	0.00102	T	0.633137	0.24745	T	0.050190467	0.09028	0.059170898	0.11058	0.03790937	0.04951	0.06722979	0.13879	-7.836	0.59947	D	.	.	0.096	0.15296	B	.;.	.;.	1.765036	0.22449	15.62	0.9155803414720719	0.20837	0.43099	0.27023	N	AEFBCI	0.272659	0.38824	N	-0.449215264707365	0.23767	1.278613	-0.324653953905833	0.27304	1.514177	0.999916049523709	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	2.557000	0.45533	7.569000	0.60664	-0.180000	0.10397	0.013000	0.18845	0.996000	0.32793	0.007000	0.07825	0.2379:0.7621:0.0:0.0	11.090	0.47333	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1950.33	35	chr16	81908423	.	C	G	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.748;DP=863;ExcessHet=0;FS=1.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.182;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	18	0	1	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	3	1438	76	5	0	86	0.0290344	.	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.000000	0.023098	0.017647	0.100000	0.008621	0.021341	0.015152	0.07895	1963.79	33	chr16	81912673	.	A	G	1963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.274;DP=711;ExcessHet=0.3672;FS=1.304;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.748;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	16	0	3	0
chr16	83032186	83032186	G	A	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220489:exon3:c.G334A:p.V112I,CDH13:NM_001220491:exon3:c.G334A:p.V112I,CDH13:NM_001220492:exon3:c.G334A:p.V112I,CDH13:NM_001257:exon3:c.G334A:p.V112I,CDH13:NM_001220488:exon4:c.G475A:p.V159I	.	423	1076	21	2	0	25	0.0114837	.	.	.	726822	not_provided|CDH13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0173886277024	0.0017	0.000599042	0.0027	0.0002	0.0010	0	0.0005	0.0035	0.0023	0.0049	0.0024903	385	154602	rs200199969	0.0023	0.0023	0.0022	0.0025	0.0173	0.0023	0.0022	0.0146	0.0136	0.0004	0.0015	0.0105	2.523e-05	0.0004	0.0173	0.0020	0.0028	0.0056	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0017	0.0026	0.0023	0.0004	0	0.0008	0.0104	0	0.0004	0.0170	0.0028	0.0038	0.0039	0.216	0.19225	T	0.848	0.43913	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-0.08	0.63911	T	-0.13	0.09627	N	0.154	0.18239	-0.9578	0.39589	T	0.158	0.49060	T	9	0.0044552386	0.00091	T	0.017389	0.39069	T	0.056	0.15993	.	.	0.620859307327	0.61778	0.21591271675986948	0.21507	0.0610399350882	0.06795	0.311910480261	0.12196	T	0.099392	0.40416	T	-0.514157	0.00475	T	-0.510787	0.21235	T	0.00325878001698791	0.00034	T	0.771423	0.40183	T	0.018378975	0.00359	0.024692005	0.00493	0.016962029	0.00235	0.03030839	0.01470	-3.238	0.22243	T	.	.	0.070	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.287551	0.06639	3.138	0.97139356803091581	0.32534	0.09254	0.15047	N	AEFBI	0.056109	0.10347	N	-0.702517281820048	0.15951	0.808437	-0.66485474165278	0.17842	0.9505168	0.387530462930405	0.20016	0.719381	0.83141	0	0.573888	0.26702	0	0.607057	0.38367	0	0.733575	0.97253	0	.	.	5.65	3.7	0.41607	0.038000	0.13749	1.273000	0.25303	0.618000	0.50648	0.006000	0.17386	0.166000	0.23302	0.585000	0.31016	0.1426:0.2358:0.6215:0.0	7.609	0.27283	969	0.06854	Cadherin prodomain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.010101	0.010870	0.032164	0.000000	0.034483	0.003049	0.011364	0.02632	1561.33	34	chr16	83032186	.	G	A	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.424;DP=834;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.769;SOR=0.817	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr16	83899350	83899350	C	T	exonic	MLYCD	.	nonsynonymous SNV	MLYCD:NM_012213:exon1:c.C206T:p.A69V	Malonyl-CoA decarboxylase deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	247120	not_provided|MLYCD-related_disorder|not_specified|Deficiency_of_malonyl-CoA_decarboxylase	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.590	.	0.0032	0.000798722	0.0075	0	0.0185	0	0	0.0203	0	0.0001	0.0033247	514	154602	rs200579941	0.0034	0.0033	0.0034	0.0033	0.0044	0.0033	0.0032	0.0032	0.0031	0.0006	0.0024	0.0284	0	0.0003	0.0044	0.0033	0.0044	0.0003	0.0028	0.0028	0.0030	0.0026	0.0037	0.0026	0.0025	0.0033	0.0032	0.0006	0.0066	0.0017	0.0289	0	0.0005	0.0103	0.0037	0.0033	0.0002	0.168	0.23007	T	0.595	0.08079	T	0.685	0.41537	P	0.036	0.22909	B	0.001493	0.38855	N	0.244160	0.97088	0.38830	D	1.95	0.52479	M	-3.42	0.94348	D	-0.47	0.15178	N	0.778	0.77507	0.453	0.89877	D	0.705	0.89856	D	10	0.0071632266	0.00163	T	.	.	.	0.590	0.83636	.	.	0.936542578583	0.93588	0.2616706831724817	0.26080	1.20683058914	0.80723	0.912121415138	0.97667	D	0.100087	0.40554	T	0.0336871	0.56213	T	0.272562	0.86715	D	0.0523209546592648	0.05903	T	0.525947	0.17303	T	0.098773204	0.23301	0.15823261	0.36960	0.09376129	0.22029	0.18244977	0.41172	-5.555	0.42379	T	0.09975837277396712	0.07282	0.108	0.20625	B	.	.	3.090124	0.41606	21.4	0.99631057744544682	0.76020	0.77110	0.37878	D	AEFDBHCIJ	0.177773	0.30502	N	0.0155385130390293	0.42563	2.566802	0.0765228260236064	0.43369	2.640208	0.999999999999941	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.25	4.25	0.49658	1.861000	0.39078	4.381000	0.43181	0.437000	0.21030	0.980000	0.35271	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.997	0.80055	951	0.11083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008910	0.005618	0.008380	0.000000	0.000000	0.008772	0.015823	0.015267	0.02632	1313.33	34	chr16	83899350	.	C	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.462;DP=733;ExcessHet=0;FS=2.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.05;SOR=0.473	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1115	18	0	1	0
chr16	83959356	83959356	G	A	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon3:c.G164A:p.R55K	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0019	0.00359425	0.0033	0.0002	0.0005	0	0.0002	0.0025	0.0067	0.0130	0.0030013	464	154602	rs143490160	0.0022	0.0022	0.0018	0.0025	0.0118	0.0021	0.0021	0.0112	0.0109	0.0002	0.0006	0.0241	2.519e-05	7.515e-05	0.0099	0.0011	0.0034	0.0118	0.0018	0.0018	0.0017	0.0018	0.0104	0.0016	0.0015	0.0081	0.0073	0.0002	0	0.0007	0.0239	0	0	0.0204	0.0014	0.0057	0.0104	0.635	0.09101	T	0.951	0.02934	T	0.013	0.16609	B	0.005	0.11217	B	0.003357	0.35069	N	0.354054	0.945505	0.26659	N	1.725	0.44537	L	2.0	0.41058	T	-0.17	0.10136	N	0.278	0.32259	-1.0072	0.27789	T	0.025	0.10821	T	10	0.006587893	0.00149	T	.	.	.	0.075	0.21907	.	.	0.358540694251	0.35469	0.5104524079521334	0.50967	0.0971889597224	0.10982	0.455946445465	0.32756	T	0.004022	0.11817	T	-0.538629	0.00341	T	-0.536092	0.18682	T	0.00412382532917024	0.00044	T	0.618038	0.23687	T	0.09735337	0.22948	0.09272114	0.21864	0.09735337	0.22947	0.09272114	0.21864	.	.	.	.	.	0.078	0.11414	B	.;.;.;.;.	.;.;.;.;.	2.641038	0.34369	19.61	0.87868565668014598	0.17542	0.79868	0.39664	D	AEFBCI	0.515469	0.54241	D	-0.497844963874124	0.22151	1.180779	-0.317199824682414	0.27542	1.529072	0.998143067377048	0.36487	0.566229	0.32551	0	0.588066	0.40923	0	0.578056	0.29568	0	0.674467	0.66132	0	.	.	4.72	3.65	0.40985	1.881000	0.39273	3.342000	0.37715	0.613000	0.49114	0.999000	0.42656	1.000000	0.68203	0.984000	0.60418	0.1936:0.0:0.8064:0.0	9.156	0.36153	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.011696	0.000000	0.008621	0.015244	0.007576	0.05263	2176.83	38	chr16	83959356	.	G	A	2176.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=876;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.27;SOR=0.664	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	17	0	2	0
chr16	83965451	83965451	C	T	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon6:c.C878T:p.A293V	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.160936946232	7.8e-05	.	1.863e-05	0	0	0.0001	0	1.669e-05	0	0	1.94e-05	3	154602	rs141102431	1.66e-05	1.779e-05	1.789e-05	1.53e-05	5.988e-05	1.123e-05	9.44e-06	1.599e-05	9.41e-06	5.988e-05	0	0	2.522e-05	2.264e-05	0	1.354e-05	1.667e-05	4.709e-05	3.944e-05	3.94e-05	3.854e-05	4.037e-05	5.88e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	4.828e-05	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.004	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.935	0.84639	M	1.8	0.25344	T	-3.58	0.69118	D	0.932	0.94550	-0.5517	0.66723	T	0.213	0.57334	T	10	0.90335983	0.89700	D	0.160937	0.84083	D	0.474	0.76685	.	.	0.679483544269	0.67676	0.6540736386237636	0.65343	0.483642600612	0.47309	0.709985613823	0.68591	T	0.232638	0.59924	T	0.121729	0.66545	D	0.109537	0.77543	D	0.882469892501831	0.53258	D	0.933407	0.75038	D	0.59423184	0.72379	0.41984698	0.65966	0.59423184	0.72380	0.41984698	0.65966	.	.	.	.	.	0.656	0.72014	P	.;.;.	.;.;.	4.657839	0.74315	26.1	0.99914626505990689	0.98309	0.95988	0.67028	D	AEFDBHCI	0.833220	0.75147	D	0.551118788951244	0.70152	5.459488	0.397365253664242	0.61403	4.339844	0.999999999998665	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.8	4.8	0.61157	5.919000	0.69736	7.652000	0.63756	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:1.0:0.0:0.0	16.841	0.85833	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2576.33	39	chr16	83965451	.	C	T	2576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=1061;ExcessHet=0;FS=4.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-1.784;SOR=0.465	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr16	83994659	83994659	G	A	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon7:c.G517A:p.A173T,NECAB2:NM_001329748:exon8:c.G766A:p.A256T,NECAB2:NM_019065:exon8:c.G766A:p.A256T	.	10	1503	9	0	0	9	0.00298507	.	.	.	2333199	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0135817766556	0.0005	0.000399361	0.0007	0.0004	0.0006	0	0.0006	0.0010	0.0022	0.0001	0.0007244	112	154602	rs148631295	0.0012	0.0012	0.0012	0.0012	0.0057	0.0011	0.0011	0.0042	0.0037	0.0005	0.0006	0.0010	0	0.0011	0.0057	0.0013	0.0014	0.0001	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0018	0.0009	0.0002	0.0009	0.0102	0.0012	0.0024	0	0.08	0.42783	T	0.071	0.51737	T	0.132	0.27209	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999769	0.51308	D	2.35	0.67516	M	2.11	0.23688	T	-1.73	0.41046	N	0.675	0.68255	-1.0743	0.08493	T	0.065	0.26843	T	10	0.028508276	0.00983	T	0.013582	0.33091	T	0.119	0.33137	.	.	0.0884992946249	0.08302	0.3164601622013032	0.31559	.	.	0.486569464207	0.36963	T	0.063387	0.32163	T	-0.33773	0.05547	T	-0.298435	0.44890	T	0.0432902498000795	0.04291	T	0.938506	0.76886	D	0.3126327	0.54013	0.20752403	0.45015	0.3126327	0.54013	0.20752403	0.45014	-9.482	0.70747	D	.	.	0.138	0.35013	B	.;.;.	.;.;.	4.340186	0.66583	25.0	0.99902837688219259	0.97426	0.97196	0.73256	D	AEFBI	0.863165	0.78163	D	0.171002137203808	0.49810	3.177389	0.274657892269287	0.54062	3.572574	0.999999999560153	0.74766	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	7.211000	0.77438	11.622000	0.93628	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	14.654	0.68425	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.009511	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	826.33	37	chr16	83994659	.	G	A	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.045;DP=716;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.777;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	18	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	412	1066	43	1	0	45	0.0206706	.	.	.	715113	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011111	0.000000	0.013587	0.023529	0.000000	0.000000	0.009202	0.011364	0.05263	3864.81	41	chr16	84016654	.	C	G	3864.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.19;SOR=1.051	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	1	0	0
chr16	84101767	84101767	A	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon2:c.T17C:p.I6T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1660957	MBTPS1-related_disorder|Spondyloepiphyseal_dysplasia,_kondo-fu_type|not_provided	.|MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00319489	0.0101	0.0008	0.0030	0	0.0361	0.0129	0.0177	0.0038	0.0092431	1429	154602	rs34701895	0.0093	0.0093	0.0093	0.0094	0.0177	0.0092	0.0091	0.0149	0.0139	0.0016	0.0049	0.0037	5.038e-05	0.0325	0.0177	0.0095	0.0089	0.0040	0.0095	0.0095	0.0090	0.0101	0.0127	0.0091	0.0089	0.0120	0.0117	0.0015	0.0241	0.0065	0.0026	0	0.0335	0.0102	0.0127	0.0071	0.0037	0.391	0.10802	T	0.312	0.19599	T	0.02	0.18235	B	0.018	0.18489	B	0.005113	0.33089	N	0.355612	0.830314	0.28768	N	1.1	0.28011	L	1.41	0.33412	T	-0.15	0.82341	N	0.138	0.13626	-1.0449	0.15854	T	0.024	0.10103	T	10	0.0053536	0.00117	T	.	.	.	0.014	0.01968	.	.	.	.	0.4517386798585098	0.45091	0.049455207647	0.05415	0.604184746742	0.53495	T	0.213298	0.57457	T	-0.530541	0.00381	T	-0.520582	0.20234	T	0.00792578813983689	0.00093	T	0.69753	0.30746	T	0.023626905	0.01118	0.0472831	0.06776	0.023548719	0.01103	0.0472831	0.06776	-3.553	0.17182	T	.	.	0.117	0.23709	B	.;.	.;.	1.985030	0.25217	16.68	0.85071971645797162	0.15668	0.89986	0.50819	D	AEFBI	0.280595	0.39438	N	-0.468875365613916	0.23106	1.23843	-0.253978555040062	0.29633	1.661854	0.998649430173461	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	2.62	0.30337	3.754000	0.54903	3.086000	0.36259	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.811:0.0:0.189:0.0	10.258	0.42586	702	0.57624	.;.	.	.	.	.	rs34701895	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.005051	0.013587	0.011696	0.000000	0.017241	0.015244	0.003788	0.02632	676.33	70	chr16	84101767	.	A	G	676.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.111;DP=715;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.006;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1214	18	0	1	0
chr16	84155744	84155744	G	A	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_178452:exon5:c.G736A:p.D246N	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	255917	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_13	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.133	.	0.0062	0.00738818	0.0022	0.0225	0.0011	0	0	0.0003	0.0011	6.061e-05	0.0021992	340	154602	rs151099638	0.0011	0.0011	0.0011	0.0010	0.0210	0.0010	0.0010	0.0197	0.0192	0.0210	0.0015	0	0.0002	0	0.0012	0.0006	0.0018	9.275e-05	0.0060	0.0060	0.0061	0.0058	0.0202	0.0057	0.0055	0.0191	0.0186	0.0202	0	0.0020	0	0.0002	0	0	0.0005	0.0033	0	0.338	0.12796	T	0.586	0.08332	T	0.197	0.29559	B	0.034	0.22546	B	0.106363	0.19617	N	0.530450	1	0.08975	N	1.34	0.33385	L	2.21	0.18414	T	-1.65	0.39503	N	0.348	0.38950	-0.9630	0.38606	T	0.005	0.01578	T	10	0.009695202	0.00218	T	.	.	.	0.133	0.36157	.	.	0.30921473904	0.30521	0.2723390484870687	0.27146	0.0203864616908	0.02001	0.259944140911	0.04884	T	7.13E-4	0.00326	T	-0.716658	0.00029	T	-0.78595	0.02278	T	0.00642228753060511	0.00071	T	0.893211	0.63049	D	0.06411031	0.13569	0.039302856	0.03991	0.06411031	0.13568	0.039302856	0.03991	-6.532	0.50533	T	.	.	0.086	0.10835	B	.	.	1.346310	0.17534	13.22	0.97151856854893426	0.32590	0.48488	0.28218	N	AEFBCI	0.102826	0.20617	N	-0.95219150674881	0.09643	0.4573025	-0.905927742044059	0.11954	0.6121439	0.00673057274441193	0.11292	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-1.98	0.07070	1.479000	0.35061	0.569000	0.19588	0.676000	0.76740	0.869000	0.30776	0.000000	0.08366	0.881000	0.42162	0.4462:0.0:0.4334:0.1204	6.125	0.19393	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.015152	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	685.33	37	chr16	84155744	.	G	A	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=2.77;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr16	84195654	84195654	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C1009T:p.L337F,ADAD2:NM_139174:exon7:c.C1255T:p.L419F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.366484127413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.388e-06	1.368e-06	1.38e-06	1.395e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.062e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.133	0.34359	T	0.472	0.40908	P	0.266	0.43079	B	0.000614	0.42945	N	0.154813	0.997754	0.44161	D	1.415	0.35607	L	-3.86	0.95891	D	-3.39	0.66896	D	0.452	0.48963	0.283	0.87292	D	0.737	0.91011	D	10	0.57851696	0.65717	D	0.366484	0.92640	D	0.583	0.83249	0.753	0.88319	0.881420037493	0.88026	0.5950961125939608	0.59439	.	.	0.545715928078	0.45253	T	0.474725	0.80606	T	0.141975	0.68512	D	-0.0338385	0.68114	D	0.922850608825684	0.58319	D	0.661834	0.27067	T	0.25956485	0.49010	0.30864418	0.56882	0.25956485	0.49010	0.30864418	0.56881	-9.239	0.74466	D	.	.	0.176	0.38409	B	.;.	.;.	2.329730	0.29844	18.25	0.99339753321677038	0.60131	0.77188	0.37924	D	AEFDBI	0.305354	0.41280	N	-0.112205718548173	0.36861	2.136441	-0.107633938983665	0.35081	2.025427	0.999641224177652	0.41316	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	2.13	0.26445	1.491000	0.35192	1.307000	0.25513	0.594000	0.32500	0.997000	0.40164	0.811000	0.27038	0.949000	0.49496	0.1672:0.6513:0.0:0.1815	5.248	0.14823	754	0.51307	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2316.33	62	chr16	84195654	.	C	T	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=1013;ExcessHet=0;FS=3.578;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.27;SOR=0.476	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,118,1637	18	0	1	0
chr16	84195687	84195687	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C1042T:p.R348C,ADAD2:NM_139174:exon7:c.C1288T:p.R430C	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.360156912099	0.0002	0.00119808	0.0005	0.0001	8.946e-05	0.0005	0	0.0001	0	0.0043	0.0005175	80	154602	rs143488002	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0002	0.0038	0.0036	0	5.775e-05	0	0.0002	0	0.0007	2.76e-05	0.0004	0.0042	0.0002	0.0003	0.0001	0.0003	0.0032	0.0002	0.0001	0.0020	0.0016	0	0.0154	0.0001	0	0	0	0	4.431e-05	0	0.0032	0.003	0.72154	D	0.012	0.65728	D	0.998	0.73220	D	0.72	0.56031	P	0.094430	0.20173	N	0.537033	0.609878	0.32612	D	1.025	0.25523	L	-3.34	0.93975	D	-3.4	0.67014	D	0.25	0.35194	0.538	0.91066	D	0.712	0.90104	D	10	0.018812686	0.00413	T	0.360157	0.92491	D	0.313	0.63482	.	.	0.846923125851	0.84545	0.3228646709701884	0.32199	.	.	0.265237063169	0.05531	T	0.377916	0.74100	T	-0.309362	0.07805	T	-0.217673	0.52961	T	0.0728038695480646	0.09039	T	0.769523	0.39899	T	0.20487984	0.42612	0.14862515	0.35125	0.20487984	0.42612	0.14862515	0.35124	-4.676	0.35305	T	.	.	0.096	0.15520	B	.;.	.;.	3.367528	0.46524	22.3	0.99854799971853647	0.93368	0.03050	0.07947	N	AEFDBI	0.172968	0.30002	N	-0.165440070727997	0.34580	1.975509	-0.292037365337644	0.28360	1.580708	0.999653256803242	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	3.13	0.35090	0.038000	0.13749	2.112000	0.30666	0.594000	0.32500	0.000000	0.06391	0.009000	0.19889	0.509000	0.29221	0.0:0.7271:0.1777:0.0951	6.808	0.22972	754	0.51307	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1239.33	62	chr16	84195687	.	C	T	1239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=921;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.829;SOR=0.616	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,118,1637	18	0	1	0
chr16	84222522	84222522	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G1255A:p.V419M	.	428	1062	29	3	0	35	0.0162112	.	.	.	703853	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.946	.	0.0051	0.00479233	0.0074	0.0010	0.0023	0.0002	0.0083	0.0083	0.0169	0.0144	0.0070568	1091	154602	rs140124801	0.0069	0.0069	0.0066	0.0072	0.0127	0.0068	0.0067	0.0121	0.0118	0.0010	0.0026	0.0078	0.0001	0.0078	0.0125	0.0069	0.0071	0.0127	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0093	0.0011	0.0011	0.0020	0.0092	0.0002	0.0070	0.0170	0.0079	0.0043	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.105	0.97342	H	-4.82	0.98198	D	-2.82	0.59545	D	0.909	0.91047	0.900	0.95677	D	0.967	0.98951	D	10	0.025790572	0.00762	T	.	.	.	0.946	0.98921	.	.	0.969889004412	0.96956	0.9388897814049336	0.93869	0.30393034706	0.32714	0.793081045151	0.80911	T	0.699471	0.91333	D	0.227836	0.76518	D	0.565525	0.96017	D	0.0628093518879256	0.07604	T	0.942106	0.78341	D	0.86216265	0.88251	0.74613094	0.84994	0.86216265	0.88253	0.74613094	0.84995	-13.769	0.92282	D	.	.	0.844	0.79447	P	.	.	5.302990	0.89027	29.8	0.99916515854583565	0.98449	0.97854	0.77628	D	AEFBI	0.898918	0.84272	D	1.03012714988463	0.96598	14.89462	0.953646783385209	0.97512	16.25638	0.999999999832179	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.61	5.61	0.85347	7.905000	0.86479	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	18.627	0.91299	804	0.43891	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.022727	0.02632	1622.33	36	chr16	84222522	.	C	T	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.808;DP=1018;ExcessHet=0;FS=1.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.226;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1358	18	0	1	0
chr16	84223017	84223017	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G760A:p.E254K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.090262849897	.	0.000199681	2.941e-05	0	9.546e-05	0	0	0	0.0014	0.0001	3.23e-05	5	154602	rs188199687	2.412e-05	2.463e-05	1.718e-05	3.136e-05	9.871e-05	1.721e-05	1.514e-05	4.592e-05	3.228e-05	3.291e-05	0	0	0	0	0	2.252e-05	1.777e-05	9.871e-05	3.94e-05	3.937e-05	3.854e-05	4.029e-05	6.534e-05	1.714e-05	1.129e-05	1.972e-05	1.124e-05	2.406e-05	0	6.534e-05	0	0	0	0	5.88e-05	0	0	0.059	0.37536	T	0.082	0.41573	T	0.223	0.30377	B	0.072	0.28043	B	0.000005	0.62929	D	0.104658	0.91116	0.36415	D	2.57	0.75187	M	-4.08	0.96594	D	-2.47	0.53898	N	0.588	0.60833	0.688	0.93024	D	0.842	0.94708	D	10	0.32924557	0.50181	T	0.090263	0.75484	D	0.548	0.81252	.	.	0.896469985577	0.89544	0.7124350485716779	0.71185	0.312512805789	0.33555	0.494578242302	0.38074	T	0.400436	0.75801	T	0.0172053	0.54004	T	0.0236063	0.71863	D	0.635616064071655	0.37852	D	0.862114	0.55677	D	0.12408301	0.29122	0.16595384	0.38364	0.12408301	0.29121	0.16595384	0.38364	-9.476	0.70710	D	.	.	0.076	0.06069	B	.	.	2.360562	0.30275	18.39	0.99412265684461065	0.63358	0.94424	0.61121	D	AEFBI	0.480353	0.52211	N	-0.17910122323484	0.34006	1.935848	-0.114693916074513	0.34798	2.005713	0.225491534813955	0.18405	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	4.56	0.55644	5.047000	0.64042	3.305000	0.37415	-0.175000	0.10903	1.000000	0.71638	0.998000	0.33993	0.212000	0.22240	0.0:0.8623:0.1377:0.0	15.63	0.76651	804	0.43891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1449.33	37	chr16	84223017	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.467;SOR=0.619	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr16	84319560	84319560	G	A	exonic	WFDC1	.	nonsynonymous SNV	WFDC1:NM_001282466:exon4:c.G551A:p.R184H,WFDC1:NM_001282467:exon4:c.G548A:p.R183H,WFDC1:NM_021197:exon4:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	0.0062	0.00439297	0.0021	0.0217	0.0009	0	0	0.0002	0	0.0001	0.001837	284	154602	rs145072849	0.0007	0.0007	0.0008	0.0006	0.0229	0.0007	0.0006	0.0216	0.0211	0.0229	0.0012	0	0.0001	0	0.0009	4.677e-05	0.0018	0.0003	0.0065	0.0065	0.0067	0.0063	0.0227	0.0062	0.0060	0.0215	0.0210	0.0227	0	0.0017	0	0	0	0	0.0001	0.0066	0.0004	0.004	0.65419	D	0.0	0.92824	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	1.29	0.35775	T	-3.13	0.63901	D	0.562	0.58629	-0.9369	0.43103	T	0.082	0.32295	T	10	0.0051507056	0.00112	T	.	.	.	0.355	0.67600	.	.	0.412064437402	0.40821	0.38662520777392523	0.38577	0.140223591948	0.15806	0.426136434078	0.28680	T	0.238592	0.60652	T	-0.36347	0.03937	T	-0.27729	0.47081	T	0.0267764411113482	0.01512	T	0.859714	0.55187	D	0.2812426	0.51168	0.2330276	0.48480	0.2812426	0.51168	0.2330276	0.48479	-7.837	0.59954	D	.	.	0.119	0.24464	B	.;.	.;.	4.574476	0.72201	25.8	0.99955048810632052	0.99969	0.96772	0.70857	D	AEFDBI	0.912007	0.87206	D	0.542543157762379	0.69628	5.38423	0.50585058013213	0.68384	5.212523	0.999565571293432	0.40425	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	8.918000	0.92345	5.373000	0.48434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0:1.0:0.0	15.469	0.75159	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1576.33	102	chr16	84319560	.	G	A	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.259;DP=737;ExcessHet=0;FS=4.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.813;SOR=0.382	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	18	0	1	0
chr16	84425752	84425752	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon8:c.G484A:p.G162S,ATP2C2:NM_001286527:exon11:c.G937A:p.G313S,ATP2C2:NM_014861:exon11:c.G937A:p.G313S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.0899048384935	.	0.000399361	0.0008	0	8.639e-05	0.0001	0	0	0	0.0058	0.0006404	99	154602	rs531589939	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	0	0	0	5.038e-05	0	0	0	0.0003	0.0059	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0.0009	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.988	0.62325	D	0.989	0.78396	D	0.011755	0.29415	N	0.292022	0.999997	0.58761	D	2.435	0.70606	M	-2.66	0.90272	D	-5.51	0.85921	D	0.874	0.87157	0.913	0.95859	D	0.859	0.95298	D	10	0.097646385	0.17601	T	0.089905	0.75417	D	0.711	0.89696	0.776	0.90157	0.868265480663	0.86698	0.8590245568667019	0.85865	.	.	0.598532497883	0.52697	T	0.507871	0.82541	D	-0.110999	0.34604	T	0.0698387	0.74900	D	0.178841531437718	0.19162	T	0.993776	0.97952	D	0.1921022	0.40866	0.40046996	0.64583	0.1921022	0.40866	0.40046996	0.64583	-8.794	0.66361	D	0.3231602281775327	0.42130	0.311	0.53846	B	.;.	.;.	4.565215	0.71974	25.8	0.99832402674457876	0.91370	0.98699	0.85733	D	AEFGBI	0.908754	0.86448	D	0.718815066695593	0.80866	7.390174	0.613353973188388	0.75909	6.394712	0.999999949514374	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.562000	0.90514	11.779000	0.96061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	16.839	0.85829	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1406.33	33	chr16	84425752	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.971;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.016;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1387	18	0	1	0
chr16	84425768	84425768	A	G	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon8:c.A500G:p.K167R,ATP2C2:NM_001286527:exon11:c.A953G:p.K318R,ATP2C2:NM_014861:exon11:c.A953G:p.K318R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0630170355624	.	0.000399361	0.0008	0	8.639e-05	0.0001	0	0	0	0.0058	0.0006404	99	154602	rs551531561	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	0	0	0	5.038e-05	0	0	0	0.0003	0.0059	0.0002	0.0002	8.999e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.791	0.03382	T	1.0	0.01155	T	0.109	0.26142	B	0.371	0.43568	B	0.000002	0.62929	D	0.000000	0.999141	0.46174	D	-0.365	0.03101	N	-2.66	0.90272	D	-0.49	0.15578	N	0.579	0.60071	-0.2288	0.76919	T	0.488	0.80520	T	10	0.009766042	0.00220	T	0.063017	0.68834	D	0.502	0.78475	0.473	0.54859	0.51093147181	0.50733	0.7355369503983589	0.73498	.	.	0.437695026398	0.30262	T	0.123198	0.44739	T	-0.23696	0.15739	T	-0.111096	0.62524	T	0.14273435396988	0.16508	T	0.976502	0.91949	D	0.26563317	0.49632	0.27083743	0.52978	0.26563317	0.49632	0.27083743	0.52977	-7.413	0.56996	T	0.06311391715249844	0.01917	0.073	0.05845	B	.;.	.;.	3.127065	0.42236	21.5	0.26137692157526404	0.01238	0.97735	0.76755	D	AEFGBI	0.701263	0.65801	D	-0.420230227703193	0.24761	1.339275	-0.261575301828534	0.29376	1.645253	0.999989265935623	0.51787	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	6.248000	0.72374	8.036000	0.76294	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	1.0:0.0:0.0:0.0	13.509	0.60956	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1433.33	33	chr16	84425768	.	A	G	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=781;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.114;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1387	18	0	1	0
chr16	84439438	84439438	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon10:c.G670A:p.V224I,ATP2C2:NM_001286527:exon13:c.G1123A:p.V375I,ATP2C2:NM_014861:exon13:c.G1123A:p.V375I	.	429	1083	10	0	0	10	0.00459559	.	.	.	2817861	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.483	.	0.0011	0.00239617	0.0023	0.0002	0.0007	0	0.0002	0.0015	0.0022	0.0101	0.0020763	321	154602	rs202026876	0.0019	0.0019	0.0016	0.0022	0.0096	0.0018	0.0018	0.0091	0.0089	0.0001	0.0009	0.0001	0	0.0004	0.0035	0.0016	0.0016	0.0096	0.0014	0.0014	0.0013	0.0015	0.0085	0.0012	0.0012	0.0064	0.0057	0.0002	0	0.0016	0	0.0002	0.0004	0.0102	0.0019	0.0014	0.0085	0.019	0.51248	D	0.04	0.50809	D	0.942	0.52977	P	0.684	0.53582	P	0.000641	0.42656	N	0.098441	0.999351	0.46766	D	1.775	0.45938	L	-4.04	0.96465	D	-0.84	0.22944	N	0.278	0.36569	0.777	0.94125	D	0.870	0.95681	D	10	0.011537969	0.00252	T	.	.	.	0.483	0.77271	.	.	0.748622703697	0.74635	0.9253309998958084	0.92510	.	.	0.466936081648	0.34260	T	0.042003	0.26043	T	-0.222272	0.17684	T	-0.0842356	0.64594	T	0.0361927272691662	0.03015	T	0.890711	0.63722	D	0.058981743	0.11934	0.210555	0.45447	0.058981743	0.11933	0.210555	0.45446	-7.002	0.54048	T	0.18565392818032408	0.24134	0.081	0.08129	B	.;.	.;.	3.344372	0.46102	22.2	0.9980765982653661	0.89174	0.94271	0.60637	D	AEFDBIJ	0.530125	0.55095	D	0.20310984972196	0.51348	3.316911	0.149156179287798	0.47096	2.945144	0.999990734878231	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.91	3.95	0.44952	4.224000	0.58391	5.013000	0.46685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0847:0.0:0.9153:0.0	12.050	0.52798	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2921.33	40	chr16	84439438	.	G	A	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=3110;ExcessHet=0;FS=6.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.568;SOR=0.959	GT:AD:DP:GQ:PL	0/0:161,0:161:99:0,120,1800	18	0	1	0
chr16	84486844	84486844	G	C	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon5:c.C745G:p.L249V	.	429	1074	18	1	0	20	0.00922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00571231568794	0.0019	0.00119808	0.0021	0.0009	0.0011	0.0001	0.0017	0.0027	0.0011	0.0027	0.0021022	325	154602	rs148673734	0.0024	0.0024	0.0024	0.0024	0.0040	0.0023	0.0023	0.0027	0.0026	0.0004	0.0012	0.0048	2.519e-05	0.0025	0.0040	0.0025	0.0023	0.0030	0.0020	0.0020	0.0021	0.0019	0.0032	0.0018	0.0017	0.0028	0.0027	0.0006	0	0.0005	0.0055	0	0.0014	0.0068	0.0032	0.0005	0.0031	0.218	0.19090	T	0.277	0.21880	T	0.073	0.24078	B	0.048	0.24975	B	0.000054	0.53742	D	0.167640	0.950683	0.26496	N	2.52	0.73523	M	3.13	0.08014	T	-0.16	0.09460	N	0.268	0.30347	-1.0956	0.04667	T	0.048	0.20434	T	10	0.00836581	0.00190	T	0.005712	0.14802	T	0.157	0.40909	.	.	0.0986583533028	0.09354	0.3022918609357974	0.30142	0.00220502495395	0.00188	0.317984044552	0.13115	T	0.002991	0.02391	T	-0.4794	0.00745	T	-0.463507	0.26218	T	0.0766307343499294	0.09551	T	0.729327	0.34443	T	0.09214469	0.21610	0.06602934	0.13469	0.09214469	0.21610	0.06602934	0.13468	-4.586	0.31995	T	.	.	0.121	0.25199	B	.	.	1.472126	0.18960	14.02	0.95153600594172327	0.26290	0.96587	0.69889	D	AEFDGBHCI	0.541218	0.55746	D	-0.175467469418145	0.34158	1.946336	-0.215073229051886	0.30993	1.750042	0.999999090171992	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.32	4.36	0.51643	7.202000	0.77370	6.412000	0.55597	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.019000	0.11356	0.0773:0.0:0.9227:0.0	13.079	0.58517	982	0.03397	TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.007576	0.05263	4391.81	159	chr16	84486844	.	G	C	4391.81	.	AC=2;AF=0.053;AN=38;DP=2616;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.82;SOR=0.783	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	18	1	0	0
chr16	84495752	84495754	CTC	-	exonic	MEAK7	.	nonframeshift deletion	MEAK7:NM_020947:exon3:c.313_315del:p.E105del	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0121	0.00638978	0.0029	0.0256	0.0026	0	0	0.0008	0.0022	0.0001	0.0001035	16	154602	rs200260198	0.0014	0.0014	0.0015	0.0013	0.0290	0.0014	0.0014	0.0275	0.0269	0.0290	0.0024	0.0011	0	0	0.0052	0.0007	0.0030	0.0002	0.0086	0.0086	0.0089	0.0082	0.0279	0.0082	0.0080	0.0266	0.0260	0.0279	0	0.0040	0.0003	0	0	0.0136	0.0009	0.0076	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013595	0.045455	0.023098	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2081.29	34	chr16	84495751	.	TCTC	T	2081.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=756;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=1.57;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	18	0	1	0
chr16	84849457	84849457	C	A	exonic	CRISPLD2	.	nonsynonymous SNV	CRISPLD2:NM_031476:exon4:c.C432A:p.S144R	.	424	1091	6	1	0	8	0.00365297	.	.	.	726850	not_provided|CRISPLD2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.0145987263879	0.0040	0.00259585	0.0038	0.0009	0.0024	0	0.0012	0.0051	0.0055	0.0047	0.0037128	574	154602	rs138500867	0.0057	0.0057	0.0057	0.0057	0.0067	0.0056	0.0056	0.0066	0.0065	0.0010	0.0023	0.0008	2.519e-05	0.0008	0.0016	0.0067	0.0048	0.0046	0.0033	0.0033	0.0035	0.0032	0.0057	0.0031	0.0030	0.0053	0.0051	0.0013	0	0.0017	0.0009	0	0.0007	0	0.0057	0.0043	0.0035	0.138	0.25873	T	0.247	0.23914	T	0.005	0.12996	B	0.022	0.19653	B	0.001893	0.37740	N	0.316194	0.938719	0.26856	N	-0.145	0.04423	N	-0.13	0.65006	T	1.64	0.00765	N	0.303	0.34228	-1.0753	0.08287	T	0.071	0.28936	T	10	0.0067970753	0.00154	T	0.014599	0.34823	T	0.033	0.08068	0.459	0.52590	0.492542987314	0.48886	0.7341027797852121	0.73355	0.0837041349746	0.09440	0.441211014986	0.30742	T	0.003398	0.02809	T	-0.516835	0.00459	T	-0.513393	0.20966	T	0.0323370663339925	0.02360	T	0.886311	0.61284	D	0.06201514	0.12907	0.08998527	0.21074	0.06201514	0.12906	0.08998527	0.21073	-1.511	0.01787	T	.	.	0.170	0.47404	B	.;.;.	.;.;.	1.152381	0.15405	11.83	0.9905945426127869	0.51459	0.18566	0.20313	N	AEFDBI	0.183229	0.31056	N	-0.620419292017706	0.18332	0.9508687	-0.477638243530162	0.22770	1.23847	0.999999380388746	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.584781	0.30282	0	0.542086	0.14980	0	.	.	5.82	2.5	0.29355	-1.499000	0.02390	-9.545000	0.00807	-0.201000	0.08892	0.002000	0.15269	0.000000	0.08366	0.949000	0.49496	0.0:0.6063:0.0:0.3937	7.533	0.26862	964	0.07719	CAP domain|CAP domain;CAP domain|CAP domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1284.33	68	chr16	84849457	.	C	A	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1080;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.924;SOR=0.671	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr16	85655727	85655727	A	T	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon5:c.A487T:p.M163L,GSE1:NM_001278184:exon5:c.A580T:p.M194L,GSE1:NM_014615:exon6:c.A799T:p.M267L	.	381	1127	14	0	0	14	0.00617284	0.0007	0	.	703863	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0028	0.00279553	0.0032	0.0027	0.0015	0.0002	0.0008	0.0034	0.0025	0.0080	0.0031047	480	154602	rs151194801	0.0029	0.0029	0.0026	0.0031	0.0081	0.0028	0.0028	0.0076	0.0074	0.0026	0.0022	0.0040	5.049e-05	0.0008	0.0058	0.0027	0.0033	0.0081	0.0026	0.0026	0.0026	0.0027	0.0087	0.0024	0.0023	0.0066	0.0059	0.0024	0	0.0013	0.0032	0.0002	0.0010	0	0.0031	0.0019	0.0087	0.144	0.25255	T	0.317	0.29540	T	0.006	0.15535	B	0.001	0.08700	B	0.000000	0.84330	D	0.115413	0.998768	0.45406	D	1.81	0.47622	L	1.47	0.31987	T	-1.07	0.43334	N	0.698	0.70263	-1.0834	0.06702	T	0.050	0.21378	T	10	0.0076492727	0.00174	T	.	.	.	0.193	0.47281	0.113	0.02240	0.216624796971	0.21254	0.578017275652566	0.57730	.	.	0.802392959595	0.82329	T	0.101135	0.40759	T	-0.325232	0.06478	T	-0.235384	0.51248	T	0.0131205379348841	0.00231	T	0.793221	0.43505	T	0.2871086	0.51723	0.16584592	0.38345	0.2871086	0.51723	0.16584592	0.38344	-6.546	0.50640	T	.	.	0.253	0.48797	B	.;.;.;.	.;.;.;.	3.270610	0.44771	22.0	0.81696290854396003	0.13814	0.95259	0.64030	D	AEFBCI	0.626681	0.60941	D	-0.342235722194514	0.27558	1.512964	-0.209525126502462	0.31191	1.76304	0.997746312825063	0.35977	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.79	2.15	0.26590	4.952000	0.63320	5.942000	0.51497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.8281:0.0:0.1719:0.0	9.670	0.39171	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.002725	0.002941	0.000000	0.000000	0.015244	0.007576	0.02632	968.33	36	chr16	85655727	.	A	T	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.41;DP=670;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.593;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr16	85918488	85918488	G	A	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.G61A:p.E21K,IRF8:NM_001363907:exon7:c.G703A:p.E235K,IRF8:NM_002163:exon7:c.G673A:p.E225K	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	949617	Immunodeficiency_32B|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.108243102399	.	.	1.784e-05	0	0	0	0	1.614e-05	0	7.032e-05	1.29e-05	2	154602	rs760910506	3.96e-05	3.967e-05	3.452e-05	4.474e-05	0.0002	3.094e-05	2.826e-05	3.806e-05	2.688e-05	0	9.013e-05	0	0	0	0.0002	3.975e-05	1.674e-05	8.213e-05	4.599e-05	4.596e-05	3.853e-05	5.379e-05	0.0001	2.109e-05	1.527e-05	2.261e-05	1.124e-05	2.412e-05	0	0.0001	0	0	0	0	5.879e-05	0	0	0.058	0.46910	T	0.069	0.47581	T	0.015	0.17086	B	0.029	0.21540	B	0.000039	0.55875	N	0.190976	0.999981	0.58761	D	2.33	0.66821	M	-3.37	0.94114	D	-3.17	0.64826	D	0.455	0.49874	0.056	0.83350	D	0.691	0.89345	D	10	0.6420283	0.69112	D	0.108243	0.78469	D	0.358	0.67872	0.56	0.67958	0.748740015085	0.74647	0.7399799543313939	0.73942	0.621049151997	0.56401	0.483364105225	0.36519	T	0.887709	0.97694	D	-0.0146297	0.49616	T	-0.0760231	0.65193	T	0.780009686946869	0.45050	D	0.851115	0.58533	D	0.18626575	0.40027	0.16356173	0.37936	0.18626575	0.40027	0.16356173	0.37935	-5.848	0.44990	T	0.3230439331083149	0.42120	0.093	0.23952	B	.;.;.;.	.;.;.;.	3.137362	0.42422	21.5	0.99633426971370564	0.76203	0.92789	0.56549	D	AEFDBCI	0.690363	0.65072	D	-0.305441937631649	0.28941	1.60058	-0.174147633476257	0.32491	1.848983	0.999999986503487	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.95	3.0	0.33773	4.501000	0.60115	4.421000	0.43316	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1493:0.0:0.8507:0.0	11.245	0.48221	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1096.33	35	chr16	85918488	.	G	A	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=699;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.05;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	18	0	1	0
chr16	86510654	86510654	G	T	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G85T:p.A29S	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	336305	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.87117369	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0.0028	0	7.76e-05	12	154602	rs373503439	3.452e-05	3.557e-05	3.569e-05	3.334e-05	0.0003	2.656e-05	2.397e-05	0.0002	0.0002	3.026e-05	0.0003	0.0002	0	0	0	2.258e-05	5.033e-05	1.176e-05	1.977e-05	1.97e-05	2.579e-05	1.348e-05	6.551e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.947e-05	0	0	0.299	0.14546	T	0.695	0.05825	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.996753	0.43396	D	0	0.06538	N	-3.86	0.95891	D	0.31	0.04022	N	0.129	0.12341	-0.2850	0.75404	T	0.590	0.85320	D	9	0.06693658	0.09255	T	0.871174	0.99015	D	0.258	0.56959	.	.	0.41767021734	0.41382	0.5089539679211464	0.50817	.	.	0.834429383278	0.87241	D	0.153577	0.49449	T	-0.243161	0.14949	T	-0.288124	0.45967	T	0.0047689712689035	0.00051	T	0.440256	0.12156	T	0.10229264	0.24170	0.13500386	0.32335	0.08503591	0.19707	0.15600893	0.36542	-2.984	0.10010	T	0.0623405500016317	0.01841	0.066	0.02228	B	.	.	2.811467	0.37014	20.4	0.75559715118271653	0.11122	0.65208	0.32661	D	AEFDBHCIJ	0.312076	0.41762	N	-0.991833748267144	0.08777	0.4128554	-0.877473683861996	0.12629	0.6507103	0.999999703022704	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.27	2.28	0.27583	0.690000	0.25132	8.145000	0.76695	-0.171000	0.11205	0.013000	0.18845	1.000000	0.68203	0.701000	0.34172	0.0:0.2056:0.7944:0.0	10.204	0.42278	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1612.83	34	chr16	86510654	.	G	T	1612.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=777;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.243;SOR=0.711	GT:AD:DP:GQ:PL	0/1:36,37:73:99:901,0,799	17	0	2	0
chr16	86532094	86532094	G	A	exonic	MTHFSD	.	stopgain	MTHFSD:NM_001159377:exon8:c.C1069T:p.Q357X,MTHFSD:NM_001159378:exon8:c.C1069T:p.Q357X,MTHFSD:NM_001159379:exon8:c.C1066T:p.Q356X,MTHFSD:NM_001159380:exon8:c.C1009T:p.Q337X,MTHFSD:NM_022764:exon8:c.C1066T:p.Q356X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.534e-05	0	0.0002	0	0	2.448e-05	0	0.0002	2.59e-05	4	154602	rs779136908	2.312e-05	2.599e-05	1.987e-05	2.65e-05	0.0002	1.673e-05	1.432e-05	9.074e-05	7.106e-05	0	0	4.492e-05	0	0	0	1.493e-05	5.282e-05	0.0002	1.977e-05	1.971e-05	1.288e-05	2.7e-05	0.0002	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.481206	0.12164	N	0.787677	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193028	0.73242	D	0.31893	0.89045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;Recessive	High;.;.;.;High	8.056781	0.97133	37	0.98109569961842824	0.38343	0.46686	0.27815	N	AEFDBCI	0.121847	0.23671	N	0.136483738834062	0.48172	3.032943	-0.140854434173286	0.33762	1.93471	0.0176145722183395	0.12970	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.528226	0.09195	0	.	.	4.98	0.86	0.18179	1.251000	0.32465	1.072000	0.23814	-0.179000	0.10443	0.238000	0.24727	0.004000	0.18990	0.003000	0.05239	0.0856:0.1837:0.4679:0.2627	3.655	0.07753	976	0.04745	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	833.33	52	chr16	86532094	.	G	A	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.061;DP=989;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.164;SOR=0.657	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr16	87604288	87604308	CTGCTGCTGCTGCTGCTGCTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.431_451del:p.A151_A157del	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451154188	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	0.0001	9.262e-05	0.0085	0	0.0003	0.0004	0.0002	0.0007	0.0002	0.0007	0.0007	0.0007	0.0007	0.0011	0.0006	0.0005	0.0004	0.0003	0.0002	0	0.0001	0.0145	0.0002	0.0004	0	0.0004	0.0010	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	29025.2	105	chr16	87604287	.	CCTGCTGCTGCTGCTGCTGCTG	C	29025.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=2417;ExcessHet=3.6106;FS=0.535;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=0.647;SOR=0.722	GT:AD:DP:GQ:PL	0/0:51,0:97:99:1793,1836,3804	18	0	1	0
chr16	88428146	88428146	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G676A:p.E226K	Brittle cornea syndrome 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1295011	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.707013312213	.	0.000199681	6.795e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs546141859	6.367e-05	6.088e-05	4.376e-05	8.413e-05	0.0006	5.258e-05	4.885e-05	0.0004	0.0004	0	0.0001	0	0	4.178e-05	0.0004	2.039e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0011	9.146e-05	7.702e-05	0.0007	0.0006	2.407e-05	0	0.0011	0	0.0002	0	0	0	0.0005	0.0002	0.087	0.32453	T	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-1.18	0.30140	N	0.168	0.37923	-1.0125	0.26133	T	0.021	0.08686	T	9	0.14747176	0.27942	T	0.707013	0.97611	D	0.195	0.47612	0.141	0.04462	0.289474373501	0.28556	0.1906535961555458	0.18983	.	.	0.593420624733	0.51977	T	0.019442	0.15489	T	-0.494393	0.00615	T	-0.613787	0.11678	T	0.137022718787193	0.16016	T	0.666633	0.27564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37178	B	.;.	.;.	2.513633	0.32468	19.05	0.9894185866897327	0.48959	0.72580	0.35520	D	AEFBI	0.121573	0.23630	N	-0.374413681943002	0.26385	1.439525	-0.486274892300509	0.22530	1.224221	0.00472896728562463	0.10688	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.34	-0.176	0.12658	3.197000	0.50730	3.642000	0.39350	-0.155000	0.11859	0.996000	0.39380	0.995000	0.32472	0.013000	0.09966	0.2746:0.1492:0.5763:0.0	5.195	0.14558	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	34	chr16	88428146	.	G	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.542;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.66;SOR=0.732	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1219	18	0	1	0
chr16	88428339	88428339	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C869T:p.A290V	Brittle cornea syndrome 1, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	326644	not_provided|not_specified|Brittle_cornea_syndrome_1|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.054	.	.	0.0103834	0.0035	0	0	0.0823	0	0	0.0183	0.0023	0.0010673	165	154602	rs117501524	0.0012	0.0012	0.0012	0.0012	0.0353	0.0012	0.0012	0.0337	0.0330	9.494e-05	0.0001	0	0.0353	0	0.0002	2.503e-05	0.0044	0.0021	0.0020	0.0020	0.0016	0.0023	0.0523	0.0018	0.0017	0.0471	0.0452	4.811e-05	0	0.0003	0	0.0523	0	0	1.47e-05	0.0033	0.0035	0.314	0.13834	T	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.41	0.05574	T	-0.15	0.09297	N	0.041	0.02179	-0.9283	0.44386	T	0.003	0.00929	T	9	0.0018436611	0.00025	T	.	.	.	0.054	0.15330	.	.	0.12205267543	0.11705	0.06156912454752168	0.06096	.	.	0.43697682023	0.30164	T	0.005941	0.05383	T	-0.782362	0.00011	T	-0.857108	0.00875	T	0.00466004811416475	0.00050	T	0.458554	0.13215	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.14339	B	.;.	.;.	0.669409	0.10379	7.104	0.76044740843592262	0.11311	0.02632	0.07225	N	AEFDBI	0.036941	0.05002	N	-1.28059393818816	0.03909	0.1754991	-1.3851512033486	0.03409	0.1589767	0.57437596806761	0.21519	0.580535	0.33130	0	0.593476	0.48661	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.4	-6.8	0.01548	0.199000	0.17037	-0.406000	0.09378	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3572:0.1189:0.2639:0.2599	0.609	0.00708	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001220	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2822.33	34	chr16	88428339	.	C	T	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.864;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.789;SOR=0.699	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1219	18	0	1	0
chr16	88429505	88429505	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G2035A:p.E679K	Brittle cornea syndrome 1, Autosomal recessive	0	1477	41	4	0	49	0.016317	.	.	.	344289	Ehlers-Danlos_syndrome|not_specified|not_provided|Brittle_cornea_syndrome_1|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	.	0.0081869	0.0211	0	0.0068	0	0	0.0064	0.0065	0.0353	0.0025614	396	154602	rs551591362	0.0031	0.0028	0.0021	0.0041	0.0361	0.0030	0.0030	0.0350	0.0346	0.0003	0.0017	0.0209	0.0002	0	0.0071	0.0004	0.0046	0.0361	0.0020	0.0019	0.0015	0.0025	0.0407	0.0018	0.0017	0.0357	0.0338	7.433e-05	0	0.0006	0.0176	0.0005	0	0.0034	0.0005	0.0029	0.0407	0.043	0.41364	D	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.93	0.09822	T	-1.28	0.32185	N	0.091	0.08506	-0.9758	0.35948	T	0.015	0.06090	T	9	0.003065288	0.00051	T	.	.	.	0.033	0.08068	.	.	.	.	0.24142364072935474	0.24056	.	.	0.524429678917	0.42250	T	0.019	0.14967	T	-0.613088	0.00121	T	-0.625572	0.10753	T	0.00625123069437818	0.00069	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03372	B	.;.	.;.	1.252195	0.16489	12.57	0.98335503393313495	0.40388	0.25674	0.22769	N	AEFDBI	0.059430	0.11225	N	-0.839983330351057	0.12297	0.5985457	-0.858935767875383	0.13072	0.6761727	0.989395211841557	0.31812	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.61	0.011	0.13408	0.644000	0.24455	0.377000	0.17739	-0.177000	0.10537	0.103000	0.22855	0.015000	0.20450	0.001000	0.02609	0.1637:0.1408:0.5505:0.145	2.905	0.05368	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005495	0.007143	0.004630	0.004310	0.000000	0.000000	0.005882	0.009615	0.02632	667.33	129	chr16	88429505	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=1322;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.484;SOR=0.563	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	0	1	0
chr16	88430811	88430811	G	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G3341T:p.R1114L	Brittle cornea syndrome 1, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	486161	Ehlers-Danlos_syndrome|Cardiovascular_phenotype|ZNF469-related_disorder|not_provided|Brittle_cornea_syndrome_1|not_specified	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN230736|.|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	0.532799994383	.	0.000599042	0.0035	0	0	0	.	0.0053	0	0.0032	0.0020569	318	154602	rs568046708	0.0025	0.0024	0.0023	0.0027	0.0029	0.0024	0.0024	0.0026	0.0025	0.0003	0.0009	0.0054	0	0.0009	0.0018	0.0027	0.0026	0.0029	0.0021	0.0021	0.0021	0.0021	0.0028	0.0019	0.0018	0.0025	0.0023	0.0004	0.0515	0.0013	0.0075	0.0002	0.0009	0	0.0028	0.0009	0.0025	0.008	0.58626	D	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	0.989827	0.24249	N	.	.	.	1.49	0.31470	T	-2.47	0.53898	N	0.203	0.29544	-1.0646	0.10642	T	0.069	0.28113	T	9	0.00663656	0.00150	T	0.533	0.95613	D	0.059	0.16972	.	.	0.395441342475	0.39163	0.04776889549115124	0.04719	.	.	0.365535974503	0.20189	T	0.026947	0.19836	T	-0.494235	0.00616	T	-0.484817	0.23935	T	0.0413275450727463	0.03930	T	0.620638	0.23835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.55424	B	.;.	.;.	1.725826	0.21966	15.43	0.65801537723507486	0.07876	0.94636	0.61815	D	ALL	0.273823	0.38915	N	-0.439363956195326	0.24103	1.299055	-0.59336187514869	0.19665	1.056116	0.999999997867319	0.74766	0.443343	0.08805	1	0.166054	0.03914	2	0.666236	0.60216	0	0.249971	0.05119	0	.	.	4.35	2.34	0.28071	0.325000	0.19374	0.245000	0.16356	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.098:0.1746:0.7274:0.0	6.980	0.23880	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003947	0.006849	0.000000	0.000000	0.000000	0.000000	0.013699	0.000000	0.02632	839.33	46	chr16	88430811	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.522;DP=889;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.85;SOR=0.704	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1144	18	0	1	0
chr16	88435973	88435973	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8503C:p.E2835Q	Brittle cornea syndrome 1, Autosomal recessive	0	1485	33	4	0	41	0.0136167	.	.	.	326712	ZNF469-related_disorder|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|not_specified|not_provided	.|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.021	0.381191108686	.	0.00139776	0.0038	0.0007	0.0028	0	0	0.0026	0	0.0058	0.0005757	89	154602	rs200153921	0.0011	0.0010	0.0009	0.0012	0.0227	0.0010	0.0010	0.0195	0.0183	0.0009	0.0011	0.0043	0	0	0.0227	0.0006	0.0021	0.0047	0.0010	0.0010	0.0009	0.0011	0.0052	0.0009	0.0008	0.0036	0.0031	0.0002	0	0.0010	0.0046	0	9.407e-05	0.0272	0.0010	0.0038	0.0052	0.271	0.15984	T	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.76	0.21215	N	0.029	0.00666	-0.9278	0.44458	T	0.010	0.03765	T	9	0.0073034167	0.00166	T	0.381191	0.92975	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10078178713489579	0.10009	.	.	0.251232206821	0.03898	T	0.01889	0.15149	T	-0.655829	0.00067	T	-0.714563	0.05063	T	0.0054582720408137	0.00059	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08560	B	.;.	.;.	0.162934	0.05532	1.993	0.96003666688408718	0.28422	0.01458	0.04877	N	AEFDBI	0.043533	0.06895	N	-1.16904501798776	0.05473	0.2496227	-1.25720120207156	0.05025	0.2384723	0.974507050025547	0.29548	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.9	-5.55	0.02336	-0.080000	0.11303	0.627000	0.20189	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2731:0.4976:0.2293:0.0	6.893	0.23424	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.000000	0.037313	0.017544	0.083333	0.041667	0.020548	0.012195	0.02632	2050.33	113	chr16	88435973	.	G	C	2050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=2151;ExcessHet=0;FS=4.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.74;SOR=0.489	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	14	0	5	0
chr16	88436564	88436578	CTTCCCGGGAACACC	-	exonic	ZNF469	.	nonframeshift deletion	ZNF469:NM_001367624:exon3:c.9094_9108del:p.L3032_T3036del	Brittle cornea syndrome 1, Autosomal recessive	0	1473	47	2	0	51	0.017017	.	.	.	132460	not_provided|Keratoconus_1|Ehlers-Danlos_syndrome|not_specified|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0046	0.0012	0.0028	0	0	0.0043	0.0060	0.0060	0.0003842	10	26028	rs1483100952	0.0025	0.0024	0.0023	0.0028	0.0212	0.0025	0.0024	0.0182	0.0170	0.0012	0.0022	0.0050	0	0.0002	0.0212	0.0023	0.0033	0.0061	0.0021	0.0021	0.0018	0.0023	0.0073	0.0019	0.0018	0.0054	0.0047	0.0005	0.0055	0.0020	0.0035	0.0002	9.406e-05	0.0272	0.0029	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7059.79	62	chr16	88436563	.	GCTTCCCGGGAACACC	G	7059.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1329;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.613;SOR=0.648	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1365	17	0	2	0
chr16	88533626	88533631	GGGCGC	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.1668_1673del:p.A562_G563del	.	429	1086	4	1	2	8	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147	0.00299521	0.0001	0.0012	0	0	0	0	0	0.0001	0.0005763	15	26028	rs535185501	0.0002	0.0003	0.0002	0.0002	0.0045	0.0002	0.0002	0.0038	0.0036	0.0045	0.0004	0	0.0002	4.331e-05	0.0011	0.0001	0.0005	0.0003	0.0012	0.0012	0.0013	0.0012	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0	0	0	0	5.964e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1909.29	41	chr16	88533625	.	AGGGCGC	A	1909.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=735;ExcessHet=0;FS=0.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=3.75;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	18	0	1	0
chr16	88533967	88533967	G	A	exonic	ZFPM1	.	nonsynonymous SNV	ZFPM1:NM_153813:exon10:c.G2009A:p.G670D	.	425	1091	5	1	0	7	0.00319781	.	.	.	4099174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.298522573757	.	.	0.0011	0	0	0	0	0.0003	0	0.0018	0.0001294	20	154602	rs773013769	0.0001	0.0001	5.56e-05	0.0002	0.0018	9.349e-05	8.783e-05	0.0012	0.0011	0	8.175e-05	0	0	9.184e-05	0.0018	1.159e-05	9.135e-05	0.0014	6.14e-05	5.948e-05	5.317e-05	7.007e-05	0.0012	3.183e-05	2.387e-05	0.0005	0.0004	0	0	6.752e-05	0	0	0.0001	0.0035	0	0	0.0012	0.375	0.11370	T	0.216	0.26226	T	0.969	0.56768	D	0.54	0.48825	P	0.649161	0.10529	U	0.842078	0.536453	0.31448	N	0.805	0.20218	L	3.23	0.06931	T	-0.73	0.20576	N	0.359	0.40063	-1.0160	0.25013	T	0.018	0.07706	T	10	0.03855738	0.02282	T	0.298523	0.90803	D	0.047	0.12962	.	.	0.393471546983	0.38961	0.3982640867423139	0.39741	1.94421044628	0.93273	0.92670071125	0.98790	D	0.174471	0.52370	T	-0.546316	0.00307	T	-0.5929	0.13415	T	0.0712734890636471	0.08828	T	0.577542	0.20782	T	0.08585912	0.19934	0.08019746	0.18121	0.08585912	0.19934	0.08019746	0.18121	-11.48	0.82225	D	.	.	0.632	0.70190	P	.	.	3.747550	0.53700	23.4	0.99585838352441181	0.73277	0.09924	0.15567	N	AEFDGBHCI	0.205000	0.33139	N	-0.254382259173252	0.30929	1.729282	-0.299238175279413	0.28123	1.565619	0.999999999078405	0.74766	0.65757	0.49021	0	0.633563	0.54681	0	0.519653	0.09787	0	0.604282	0.37693	0	.	.	3.01	3.01	0.33872	1.436000	0.34590	5.825000	0.50115	0.407000	0.20612	0.348000	0.25742	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.7508:0.2491	7.771	0.28171	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003304	0.000000	0.002874	0.003086	0.000000	0.000000	0.007194	0.004167	0.02632	693.33	46	chr16	88533967	.	G	A	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.096;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-1.166;SOR=0.623	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,971	18	0	1	0
chr16	88534107	88534133	CCGGCCGCGCCCCCGGGACCCCCTGGG	-	exonic	ZFPM1	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.2149_2175del:p.G722_P730del	.	430	1089	3	0	0	3	0.00137552	.	.	.	3886887	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0004	0	0.0122	0	0	0.0013	0	0	0.0008452	22	26028	rs557721678	0.0079	0.0065	0.0081	0.0077	0.0089	0.0078	0.0077	0.0087	0.0086	0.0021	0.0020	0.0004	0.0011	0.0032	0.0016	0.0089	0.0071	0.0010	0.0058	0.0057	0.0063	0.0053	0.0087	0.0055	0.0054	0.0081	0.0078	0.0024	0	0.0071	0.0009	0.0027	0.0035	0	0.0087	0.0073	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1427.29	43	chr16	88534106	.	ACCGGCCGCGCCCCCGGGACCCCCTGGG	A	1427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=0.078;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,971	18	0	1	0
chr16	88657480	88657480	G	A	exonic	MVD	.	nonsynonymous SNV	MVD:NM_002461:exon4:c.C359T:p.T120M	Porokeratosis 7, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1295664	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.888	0.210820313297	.	.	1.879e-05	0	0	0	0	3.416e-05	0	0	1.94e-05	3	154602	rs757884457	2.671e-05	2.668e-05	2.589e-05	2.753e-05	4.639e-05	2e-05	1.756e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	0	4.639e-05	1.97e-05	1.97e-05	0	4.033e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.62929	D	0.097792	1	0.81001	D	3.355	0.91145	M	-1.98	0.85247	D	-5.89	0.88767	D	0.909	0.91047	0.765	0.93976	D	0.789	0.92854	D	10	0.9170991	0.91069	D	0.21082	0.87272	D	0.888	0.96762	0.737	0.86978	0.677595378676	0.67485	0.7021236284703799	0.70153	0.355989253825	0.37353	0.666965544224	0.62405	T	0.879518	0.97463	D	0.314486	0.84076	D	0.376601	0.91309	D	0.974656045436859	0.70599	D	0.99585	0.98729	D	0.71836585	0.79070	0.6001108	0.76770	0.71836585	0.79072	0.6001108	0.76771	-9.733	0.72297	D	0.6050795600574368	0.67230	0.148	0.56882	B	.;.	.;.	5.139372	0.86042	28.8	0.9990915332963175	0.97875	0.97261	0.73647	D	AEFDBCI	0.942844	0.94793	D	0.829262760280429	0.87897	9.380072	0.749565333693792	0.86125	8.790117	0.999999999984341	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	6.059000	0.70765	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.428000	0.27405	0.0:0.0:1.0:0.0	18.646	0.91368	835	0.38313	GHMP kinase N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	1201.33	34	chr16	88657480	.	G	A	1201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=802;ExcessHet=0;FS=5.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.562;SOR=0.677	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1539	18	0	1	0
chr16	88681634	88681634	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G157A:p.G53S	.	414	1096	10	2	0	14	0.00634633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0042864543378	0.0002	0.000998403	0.0006	0.0001	0.0002	0	0	0.0007	0	0.0025	0.0005239	81	154602	rs45506693	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0034	0.0033	0.0001	0.0003	0.0068	0	0	0.0035	0.0002	0.0011	0.0038	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	7.229e-05	0	0.0001	0.0066	0.0002	0	0.0170	0.0002	0.0005	0.0023	0.439	0.09291	T	0.501	0.11153	T	0.003	0.11197	B	0.001	0.04355	B	0.279685	0.03825	N	1.426480	1	0.08975	N	0.42	0.12520	N	3.55	0.04746	T	0.69	0.02195	N	0.085	0.06190	-0.9248	0.44886	T	0.008	0.02884	T	10	0.0032294095	0.00055	T	0.004286	0.10373	T	0.007	0.00512	.	.	0.0551355673512	0.04727	.	.	0.082201812116	0.09269	0.301113814116	0.10568	T	0.00812	0.07471	T	-0.745142	0.00019	T	-0.844595	0.01032	T	0.00284892537892234	0.00030	T	0.307569	0.05925	T	0.04210917	0.06324	0.037326425	0.03361	0.04210917	0.06324	0.037326425	0.03361	-3.416	0.15273	T	.	.	0.131	0.28203	B	.	.	-0.738204	0.01235	0.063	0.70291109780015038	0.09248	0.01800	0.05617	N	AEFDGBCI	0.045810	0.07534	N	-1.37615950517131	0.02862	0.1270242	-1.42634773366858	0.02991	0.1386766	0.999999948961246	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.45	-3.9	0.03904	-0.687000	0.05257	-2.245000	0.04004	-2.889000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2485:0.2825:0.0:0.469	4.378	0.10714	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002523	0.000000	0.002717	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1571.33	68	chr16	88681634	.	C	T	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.58;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.11;ReadPosRankSum=-0.505;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr16	88713310	88713310	A	-	splicing	CTU2	NM_001012759:exon8:c.738-2A>-;NM_001318513:exon7:c.477-2A>-;NM_001012762:exon8:c.738-2A>-;NM_001318507:exon8:c.951-2A>-	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	934.29	33	chr16	88713309	.	TA	T	934.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.301;DP=718;ExcessHet=0;FS=4.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=2.02;SOR=0.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1198:.	18	0	1	0
chr16	88721207	88721207	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.G5627A:p.R1876K	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	398	1097	24	2	1	29	0.0126013	.	.	.	726889	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	.	0.00439297	0.0083	0	0.0088	0	0	0.0008	0.0143	0.0203	0.0012742	197	154602	rs201967733	0.0014	0.0013	0.0009	0.0019	0.0170	0.0013	0.0013	0.0162	0.0159	0.0002	0.0007	0	5.635e-05	5.486e-05	0.0046	0.0004	0.0019	0.0170	0.0012	0.0012	0.0008	0.0017	0.0220	0.0011	0.0010	0.0186	0.0173	0.0001	0.0088	0.0018	0	0	0	0	0.0005	0.0024	0.0220	0.39	0.10838	T	0.334	0.18340	T	0.005	0.12996	B	0.01	0.14941	B	0.355368	0.13752	N	0.639672	1	0.08975	N	0.46	0.12951	N	-0.59	0.71543	T	-0.11	0.08653	N	0.11	0.09631	-0.9628	0.38645	T	0.171	0.51181	T	10	0.0028022528	0.00044	T	.	.	.	0.051	0.14325	.	.	0.187035705434	0.18338	0.3578497636876715	0.35698	.	.	0.433200597763	0.29646	T	0.004706	0.04113	T	-0.482128	0.00719	T	-0.451694	0.27511	T	0.00300939526850538	0.00032	T	0.518348	0.16810	T	0.02860696	0.02224	0.02676825	0.00785	0.02860696	0.02224	0.02676825	0.00785	-3.423	0.15367	T	0.07969468372394607	0.03948	0.081	0.08129	B	.	.	-0.568638	0.01659	0.117	0.69857374410872997	0.09107	0.04711	0.10402	N	AEFBCI	0.043856	0.06984	N	-1.05770769683882	0.07436	0.3454741	-1.06897098041262	0.08316	0.4083712	0.0796209566764675	0.15823	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.63	1.82	0.24209	-1.595000	0.02196	-1.640000	0.05006	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4625:0.0:0.5375	4.553	0.11522	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004415	0.005376	0.000000	0.008621	0.000000	0.000000	0.000000	0.010870	0.05263	2935.83	118	chr16	88721207	.	C	T	2935.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=1438;ExcessHet=0.119;FS=7.391;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.846;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	17	0	2	0
chr16	88721421	88721421	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.C5413T:p.L1805F	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	269	1247	6	0	0	6	0.0024	.	.	.	740458	not_provided|PIEZO1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.73882842185	.	0.000399361	0.0019	0	0	0	0	0.0001	0	0.0045	0.0002911	45	154602	rs201769196	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0038	0.0033	0.0003	0.0004	0	0	0	0.0053	0.0002	0.0003	0.0026	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	7.22e-05	0	0.0004	0	0	0	0.0034	0.0002	0.0009	0.0017	0.068	0.35726	T	0.004	0.74150	D	0.879	0.48338	P	0.37	0.43538	B	0.000001	0.84330	D	0.000000	0.999806	0.49283	D	3.485	0.92608	M	-1.37	0.80214	T	-3.14	0.64019	D	0.397	0.43803	-0.2416	0.76584	T	0.389	0.74371	T	10	0.027090877	0.00862	T	0.738828	0.97906	D	0.575	0.82799	.	.	0.449421072434	0.44565	0.6827595709860058	0.68214	.	.	0.648559808731	0.59782	T	0.139977	0.47429	T	-0.216901	0.18416	T	-0.0873899	0.64357	T	0.17873671310832	0.19156	T	0.948805	0.80311	D	0.2798853	0.51037	0.18915688	0.42247	0.2798853	0.51037	0.18915688	0.42246	-9.675	0.71944	D	0.8060606039285848	0.88191	0.667	0.71623	P	.	.	3.810672	0.54964	23.6	0.99596550939522499	0.73925	0.93127	0.57397	D	AEFDBCI	0.545019	0.55970	D	0.336220576434354	0.58017	3.971594	0.342186202661793	0.58040	3.972206	0.999427470725161	0.39630	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	3.359000	0.52012	11.457000	0.92815	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.0851:0.0:0.9149:0.0	12.226	0.53771	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	80	chr16	88721421	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=1178;ExcessHet=0;FS=8.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.074;SOR=1.096	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	18	0	1	0
chr16	88723932	88723932	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.G4274A:p.S1425N	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	7	0	0	7	0.00317749	.	.	.	982039	Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Blood_group,_ER|Lymphatic_malformation_6|PIEZO1-related_disorder|not_provided	MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MedGen:C5703066,OMIM:620207|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.521898163511	.	.	0.0011	0	0.0024	0	0	0.0004	0	0.0022	0.0001552	24	154602	rs772788410	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0023	0.0022	6.332e-05	8.403e-05	0.0011	0	2.081e-05	0.0032	0.0002	0.0005	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.213e-05	0	6.532e-05	0.0012	0	0	0.0034	0.0001	0.0014	0.0017	0.144	0.25255	T	0.08	0.41913	T	1.0	0.90584	D	0.997	0.86255	D	0.000082	0.51296	D	0.194121	0.999806	0.49283	D	3.1	0.87590	M	-0.93	0.75215	T	-2.21	0.49684	N	0.466	0.50237	-0.3703	0.72952	T	0.379	0.73587	T	10	0.052884102	0.05393	T	0.521898	0.95459	D	0.260	0.57221	0.216	0.13643	0.285775778912	0.28195	0.37909203879146175	0.37824	.	.	0.831357896328	0.86770	D	0.312511	0.68433	T	-0.401489	0.02264	T	-0.354725	0.38663	T	0.159493900370773	0.17834	T	0.861414	0.55526	D	0.18746126	0.40201	0.17324612	0.39637	0.18746126	0.40201	0.17324612	0.39636	-11.988	0.84793	D	0.6523361768315288	0.72467	0.710	0.73380	P	.	.	4.337266	0.66507	25.0	0.99669483997941732	0.78458	0.97253	0.73599	D	AEFBI	0.694129	0.65323	D	0.287204185475833	0.55499	3.713965	0.302764658637187	0.55701	3.733018	0.999999996637528	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.545000	0.60408	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:1.0:0.0:0.0	17.878	0.88744	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003663	0.000000	0.000000	0.004065	0.000000	0.000000	0.009804	0.008333	0.02632	1516.33	33	chr16	88723932	.	C	T	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.095;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.609;SOR=0.723	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1407	18	0	1	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,117,1755	16	0	3	0
chr16	88735041	88735041	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon14:c.C1682T:p.T561M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2850757	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.579198728388	.	.	4.922e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs759869189	2.79e-05	2.668e-05	2.682e-05	2.901e-05	0.0003	2.089e-05	1.834e-05	0.0002	0.0001	6.33e-05	2.801e-05	0	0.0003	0	0	1.668e-05	1.725e-05	7.572e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0.0002	9.407e-05	0	0	0	0	0.048	0.40068	D	0.085	0.41074	T	0.992	0.64738	D	0.549	0.49194	P	0.101302	0.19844	N	0.454910	1	0.08975	N	2.19	0.61577	M	-1.97	0.85173	D	-1.83	0.42957	N	0.25	0.28264	-0.4425	0.70647	T	0.475	0.79883	T	10	0.1665746	0.31101	T	0.579199	0.96223	D	0.267	0.58126	0.281	0.23642	0.110392049598	0.10638	0.187967569654512	0.18714	.	.	0.351370930672	0.18123	T	0.009531	0.08670	T	-0.317861	0.07074	T	-0.326769	0.41827	T	0.0458198797074958	0.04751	T	0.658834	0.26791	T	0.018362366	0.00357	0.03507703	0.02692	0.018362366	0.00357	0.03507703	0.02692	-4.268	0.27726	T	0.13171484359320654	0.13978	0.086	0.10594	B	.	.	1.771833	0.22535	15.66	0.99469926264592234	0.66259	0.10841	0.16230	N	AEFDBI	0.072981	0.14582	N	-0.398001781203803	0.25540	1.387167	-0.588020435740362	0.19804	1.064246	0.770695456810168	0.23666	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.13	2.13	0.26445	0.212000	0.17289	1.463000	0.26696	-0.169000	0.11342	0.000000	0.06391	0.053000	0.21875	0.004000	0.06068	0.2012:0.0:0.5712:0.2276	4.174	0.09803	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4022.33	33	chr16	88735041	.	G	A	4022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.542;DP=1394;ExcessHet=0;FS=5.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.088;SOR=0.45	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.02632	942.33	38	chr16	88736210	.	C	T	942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.32;DP=747;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr16	88737956	88737956	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.G998A:p.R333H	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	425	1083	14	0	0	14	0.00642202	.	.	.	703893	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.083	.	0.0079	0.00798722	0.0055	0.0135	0.0213	0	0	0.0063	0.0069	0.0023	0.0018111	280	154602	rs139099911	0.0056	0.0053	0.0058	0.0055	0.0137	0.0055	0.0055	0.0127	0.0122	0.0137	0.0080	0.0037	0.0002	0.0011	0.0127	0.0059	0.0067	0.0021	0.0082	0.0082	0.0087	0.0077	0.0139	0.0078	0.0077	0.0130	0.0126	0.0139	0	0.0106	0.0012	0	0.0007	0.0238	0.0067	0.0118	0.0014	0.659	0.04713	T	0.192	0.28300	T	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	-0.66	0.72348	T	-0.97	0.25770	N	0.19	0.20793	-1.0317	0.19905	T	0.078	0.31072	T	9	0.0027179718	0.00042	T	.	.	.	0.083	0.24192	.	.	0.082315109003	0.07666	0.30635840609970894	0.30548	.	.	0.269693553448	0.06102	T	0.002959	0.02360	T	-0.545696	0.00310	T	-0.543657	0.17939	T	4.05406462959945e-05	0.00000	T	0.627137	0.24302	T	0.018275071	0.00348	0.023404123	0.00354	0.018275071	0.00348	0.023404123	0.00354	-3.628	0.18263	T	0.27473062936333154	0.36900	0.077	0.06479	B	.	.	0.091030	0.04949	1.517	0.783837323093733	0.12277	0.04719	0.10413	N	AEFDGBCI	0.110113	0.21848	N	-1.37552186590158	0.02868	0.1273059	-1.31995480069791	0.04172	0.1962572	0.895875410947873	0.25964	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	0.878	0.18285	-0.415000	0.07170	-1.706000	0.04878	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6842:0.0:0.3158	8.624	0.33039	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016129	0.047619	0.013514	0.012500	0.083333	0.000000	0.000000	0.000000	0.02632	1389.33	79	chr16	88737956	.	C	T	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=1371;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.873;SOR=0.834	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr16	88805794	88805794	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon5:c.C757T:p.R253C	Meier-Gorlin syndrome 4, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1032974	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0153964741361	0.0002	.	9.211e-05	0.0003	8.703e-05	0.0003	0	6.115e-05	0	0	9.06e-05	14	154602	rs143284523	6.092e-05	6.088e-05	7.083e-05	5.092e-05	0.0009	5.031e-05	4.675e-05	0.0003	0.0002	0.0003	0.0003	0	0.0002	0	0.0009	4.137e-05	6.625e-05	0	0.0001	0.0001	0.0002	8.067e-05	0.0003	8.663e-05	7.255e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	8.818e-05	0.0005	0	0.135	0.26192	T	0.09	0.40267	T	0.75	0.43260	P	0.271	0.39904	B	0.000253	0.46924	N	0.177478	0.997641	0.44063	D	1.9	0.50570	L	1.48	0.31731	T	-4.25	0.76094	D	0.223	0.25006	-1.0993	0.04177	T	0.043	0.18659	T	10	0.14731556	0.27916	T	0.015396	0.36109	T	0.134	0.36365	.	.	0.563173181975	0.55979	0.5149894818215873	0.51421	0.0151872281652	0.01440	0.286704361439	0.08444	T	0.126572	0.45304	T	-0.358945	0.04189	T	-0.384626	0.35181	T	0.340185880661011	0.26631	T	0.892211	0.62852	D	0.18199979	0.39397	0.12291496	0.29645	0.18199979	0.39397	0.12291496	0.29644	-10.502	0.76859	D	0.14600391862078166	0.16807	0.098	0.16054	B	.	.	3.519681	0.49330	22.8	0.99167246929954389	0.54269	0.87868	0.47558	D	AEFDBCI	0.439385	0.49838	N	-0.189383678693764	0.33575	1.906418	-0.205115020570351	0.31352	1.773494	0.999998559392731	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.83	1.42	0.21524	3.284000	0.51413	0.577000	0.19666	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.584000	0.30992	0.3918:0.3821:0.125:0.1011	2.562	0.04484	809	0.43032	CDT1 Geminin-binding domain-like|CDT1 Geminin-binding domain-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.005051	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1199.33	99	chr16	88805794	.	C	T	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=1413;ExcessHet=0;FS=2.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.605;SOR=1.106	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr16	88807344	88807344	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1339T:p.R447W	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1440295	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.548	0.292244930374	.	.	8.64e-06	0	0	0	0	0	0	6.089e-05	6.5e-06	1	154602	rs755342796	1.644e-05	1.71e-05	1.363e-05	1.927e-05	0.0002	1.112e-05	9.34e-06	1.78e-05	8.93e-06	2.987e-05	6.711e-05	0	0	0	0.0002	1.079e-05	6.63e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.71	0.79292	M	-1.37	0.80214	T	-5.51	0.85921	D	0.832	0.82761	-0.0632	0.80925	T	0.579	0.84845	D	10	0.8133297	0.80596	D	0.292245	0.90603	D	0.548	0.81252	0.444	0.50139	0.949879362571	0.94935	0.6684866924847856	0.66786	0.0842060663455	0.09501	0.562923550606	0.47680	T	0.626046	0.88347	D	0.195788	0.73499	D	0.226851	0.84516	D	0.977772772312164	0.72004	D	0.879912	0.59649	D	0.6194573	0.73734	0.5439738	0.73641	0.6194573	0.73736	0.5439738	0.73641	-10.316	0.75782	D	0.7089692859338729	0.78892	0.131	0.28203	B	.	.	3.954684	0.57957	23.9	0.9943096766889401	0.64276	0.98375	0.82137	D	AEFDBHCI	0.652401	0.62581	D	-0.211324731976896	0.32668	1.844876	-0.398672181458589	0.25037	1.374507	0.999999224480314	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.58	0.177	0.14338	3.647000	0.54144	2.507000	0.33056	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.2182:0.5357:0.0:0.2461	5.439	0.15796	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr16	88807344	.	C	T	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.513;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.345;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.02632	708.33	33	chr16	88807362	.	C	T	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=722;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.253;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	18	0	1	0
chr16	88810425	88810425	-	C	exonic	APRT	.	frameshift insertion	APRT:NM_000485:exon3:c.318dupG:p.K107Efs*3,APRT:NM_001030018:exon3:c.318dupG:p.K107Efs*3	Adenine phosphoribosyltransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1006.29	38	chr16	88810425	.	T	TC	1006.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=785;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.757;SOR=0.545	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr16	88864326	88864326	-	C	exonic	PABPN1L	.	frameshift insertion	PABPN1L:NM_001294328:exon7:c.619dupG:p.A207Gfs*44,PABPN1L:NM_001385709:exon7:c.600dupG:p.P201Afs*50,PABPN1L:NM_001080487:exon8:c.707dupG:p.L237Pfs*98	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.76e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs773683015	2.423e-05	2.394e-05	2.533e-05	2.31e-05	0.0002	1.744e-05	1.539e-05	1.968e-05	1.708e-05	0	0	0	0	2.048e-05	0.0002	2.775e-05	3.439e-05	0	3.284e-05	3.281e-05	0	6.718e-05	5.883e-05	1.26e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.883e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1578.29	35	chr16	88864326	.	G	GC	1578.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.08;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.735;SOR=0.637	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1238	18	0	1	0
chr16	89228044	89228044	A	G	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.A1672G:p.I558V,ZNF778:NM_001201407:exon7:c.A1756G:p.I586V,ZNF778:NM_001378881:exon7:c.A1756G:p.I586V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00151873335189	.	.	2.483e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs756433028	6.958e-06	6.859e-06	8.299e-06	5.6e-06	0.0004	3.52e-06	2.57e-06	6.159e-05	3.816e-05	0.0002	0	0	0	0	0.0004	2.735e-06	0	0	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.03	0.55759	D	0.048	0.22112	B	0.048	0.24975	B	.	.	.	.	0.999814	0.20249	N	-0.145	0.04423	N	2.31	0.16794	T	0.79	0.01893	N	0.071	0.05414	-0.9932	0.31775	T	0.022	0.09559	T	9	0.037476003	0.02105	T	0.001519	0.02369	T	0.078	0.22779	.	.	0.445614145163	0.44183	0.005156949443750736	0.00486	0.00542763190381	0.00476	0.269835710526	0.06120	T	0.004108	0.03522	T	-0.529211	0.00388	T	-0.701759	0.05730	T	0.0772234552504507	0.09628	T	0.050195	0.00356	T	0.012731528	0.00040	0.027258797	0.00865	0.012731528	0.00040	0.027258797	0.00865	-2.848	0.08634	T	.	.	0.106	0.19760	B	.;.;.	.;.;.	0.772591	0.11424	8.034	0.99853216924116295	0.93191	0.00429	0.02107	N	AEBHCI	0.028654	0.02565	N	-0.506205424172264	0.21879	1.164341	-0.444534217242911	0.23705	1.294093	0.459895371663088	0.20615	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.11	1.11	0.19640	1.703000	0.37465	-20.000000	0.00162	-0.087000	0.16196	0.794000	0.29644	0.000000	0.08366	0.735000	0.35267	0.7279:0.0:0.2721:0.0	2.996	0.05632	819	0.41190	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3279.83	165	chr16	89228044	.	A	G	3279.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.79;DP=2337;ExcessHet=0.119;FS=0.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.323;SOR=0.744	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	17	0	2	0
chr16	89283985	89283985	T	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A2557G:p.K853E,ANKRD11:NM_013275:exon9:c.A2557G:p.K853E,ANKRD11:NM_001256182:exon10:c.A2557G:p.K853E	KBG syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	2814563	KBG_syndrome|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.00917229455327	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs779145849	1.368e-05	1.368e-05	1.225e-05	1.513e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	5.396e-06	4.967e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.074	0.42976	T	0.877	0.48223	P	0.265	0.39681	B	0.003597	0.34740	N	0.243970	0.98202	0.24995	N	2.42	0.70002	M	1.08	0.39401	T	-0.99	0.26200	N	0.468	0.50418	-0.9106	0.46781	T	0.138	0.45602	T	10	0.20705342	0.36988	T	0.009172	0.24107	T	0.062	0.17934	0.209	0.12639	0.380246515176	0.37641	0.006275157442171364	0.00595	0.546344131152	0.51631	0.539731144905	0.44407	T	0.180976	0.53249	T	-0.166933	0.25698	T	-0.347113	0.39534	T	0.584826111793518	0.35804	D	0.867113	0.59164	D	0.12687384	0.29705	0.12645717	0.30455	0.12687384	0.29705	0.12645717	0.30454	-4.642	0.32695	T	0.5646547728790126	0.63218	0.350	0.67246	A	.;.;.;.	.;.;.;.	3.437000	0.47799	22.5	0.99844643679692902	0.92489	0.96911	0.71614	D	AEFBI	0.529385	0.55052	D	0.41748079490026	0.62384	4.453362	0.462757883732287	0.65541	4.836742	0.999280277135266	0.39007	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	4.054000	0.57146	4.245000	0.42727	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1412:0.0:0.0:0.8588	10.808	0.45734	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4141.33	79	chr16	89283985	.	T	C	4141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=2386;ExcessHet=0;FS=0.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.206;SOR=0.735	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	18	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1333	577.64	76	chr16	89284161	.	A	G	577.64	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-2.147;DP=2246;ExcessHet=0.7564;FS=117.529;InbreedingCoeff=-0.2077;MLEAC=5;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=1.12;ReadPosRankSum=1.15;SOR=8.675	GT:AD:DP:GQ:PL	0/0:101,0:101:3:0,3,2564	11	0	4	4
chr16	89697782	89697782	C	T	exonic	SPATA2L	.	nonsynonymous SNV	SPATA2L:NM_152339:exon3:c.G827A:p.R276Q	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0058	0.00958466	0.0133	0.0036	0.0339	0	0.0145	0.0138	0.0122	0.0099	0.0002689	7	26028	rs11541226	0.0088	0.0089	0.0089	0.0086	0.0215	0.0087	0.0086	0.0203	0.0199	0.0032	0.0215	0.0001	2.585e-05	0.0151	0.0047	0.0089	0.0073	0.0078	0.0084	0.0085	0.0077	0.0092	0.0164	0.0081	0.0079	0.0147	0.0141	0.0029	0.0099	0.0164	0	0.0002	0.0166	0.0034	0.0098	0.0033	0.0114	0.465	0.08609	T	0.593	0.08134	T	0.003	0.11197	B	0.001	0.04355	B	0.264799	0.03733	N	1.640320	1	0.08975	N	-0.205	0.04094	N	.	.	.	-0.11	0.08653	N	0.11	0.09631	-1.0705	0.09304	T	0.017	0.07092	T	9	0.0019037426	0.00026	T	.	.	.	0.008	0.00669	.	.	.	.	0.14484776162713917	0.14407	0.0231062478935	0.02342	0.394946396351	0.24364	T	0.007619	0.07015	T	-0.735999	0.00022	T	-0.811735	0.01626	T	0.000666475163605965	0.00006	T	0.537046	0.18049	T	0.01632473	0.00190	0.025168346	0.00553	0.01632473	0.00190	0.025168346	0.00553	-4.032	0.24281	T	.	.	0.065	0.01884	B	.	.	0.173279	0.05618	2.072	0.83594441476864911	0.14812	0.02005	0.06038	N	AEFDBCI	0.068165	0.13435	N	-1.53795341433743	0.01606	0.07020208	-1.58108472136191	0.01771	0.08059026	0.999972614774429	0.50053	0.660377	0.49826	0	0.573116	0.20632	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	4.99	-7.35	0.01275	-1.663000	0.02070	-0.714000	0.07736	-0.898000	0.02344	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1607:0.1387:0.3189:0.3817	1.561	0.02438	735	0.53711	.	GAS8-AS1|GAS8|GAS8|GAS8|GAS8-AS1	Esophagus_Mucosa|Esophagus_Muscularis|Muscle_Skeletal|Thyroid|Thyroid	.	.	rs11541226	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006599	0.005263	0.008219	0.008772	0.000000	0.000000	0.006211	0.000000	0.02632	1659.33	53	chr16	89697782	.	C	T	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=999;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=-0.376;SOR=0.295	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	18	0	1	0
chr16	89746685	89746685	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon35:c.C3412G:p.L1138V,FANCA:NM_001286167:exon35:c.C3412G:p.L1138V	Fanconi anemia, complementation group A, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	YES	138004	not_specified|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.435	0.0864465144465	0.0003	0.00179712	0.0015	0.0006	0.0008	0	0	0.0003	0.0056	0.0089	0.001326	205	154602	rs138417003	0.0008	0.0008	0.0005	0.0011	0.0105	0.0008	0.0008	0.0100	0.0097	0.0006	0.0007	0	2.519e-05	1.874e-05	0.0078	0.0001	0.0010	0.0105	0.0007	0.0007	0.0004	0.0010	0.0106	0.0006	0.0005	0.0083	0.0074	0.0007	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0106	0.185	0.22833	T	0.208	0.27943	T	0.911	0.50336	P	0.293	0.40773	B	0.000082	0.51296	D	0.000000	0.917715	0.36587	D	1.795	0.47270	L	-2.07	0.86010	D	-1.66	0.39692	N	0.262	0.29659	0.454	0.89900	D	0.696	0.89514	D	10	0.011628985	0.00253	T	0.086447	0.74739	D	0.435	0.74022	.	.	0.885146591904	0.88401	0.3403457598282565	0.33947	.	.	0.380156219006	0.22279	T	0.203767	0.56233	T	-0.157841	0.27092	T	0.00746071	0.70819	D	0.0427076806060103	0.04183	T	0.825817	0.52087	T	0.10365021	0.24501	0.110330895	0.26602	0.09620536	0.22656	0.12098502	0.29192	-4.12	0.25584	T	0.4952418725555626	0.57140	0.145	0.32420	B	.;.	.;.	2.563202	0.33199	19.27	0.91055926982107338	0.20308	0.90119	0.51049	D	AEFGBCI	0.237627	0.35988	N	0.245120952388785	0.53399	3.508808	0.205450259431287	0.50149	3.210049	0.998533127528051	0.37148	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	3.067000	0.49706	7.383000	0.58465	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:0.1531:0.8469:0.0	13.825	0.62839	689	0.59000	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009063	0.005051	0.010870	0.011696	0.000000	0.008621	0.003049	0.015152	0.02632	1157.33	34	chr16	89746685	.	G	C	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.289;DP=757;ExcessHet=0;FS=5.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.59;SOR=0.346	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1405	18	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.1053	2783.43	33	chr16	89767168	.	G	C	2783.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.568;DP=751;ExcessHet=0.7564;FS=0.482;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.284;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	15	0	4	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V,FANCA:NM_001286167:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.003788	0.07895	3792.79	41	chr16	89769951	.	G	A	3792.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.596;DP=870;ExcessHet=0.3672;FS=0.463;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.597;SOR=0.756	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1551,0,935	16	0	3	0
chr16	89885854	89885854	G	A	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon4:c.G436A:p.G146R	.	.	.	.	.	.	.	.	.	.	.	3331844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.00898460406685	0.0005	0.000199681	0.0004	0.0003	8.637e-05	0	0.0017	0.0005	0	6.058e-05	0.0003493	54	154602	rs147838020	0.0005	0.0005	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0002	0.0003	0	2.538e-05	0.0012	0.0002	0.0006	0.0005	0.0001	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0004	0	0	0.0013	0	0.0010	0	0.0004	0.006	0.72154	D	0.01	0.65728	D	0.985	0.61118	D	0.458	0.46341	P	0.094250	0.20182	N	0.529047	0.999997	0.23333	N	2.39	0.68882	M	.	.	.	-3.05	0.87380	D	0.43	0.56231	-1.0804	0.07272	T	0.053	0.22384	T	9	0.026240885	0.00795	T	0.008985	0.23655	T	0.151	0.39764	0.199	0.11247	0.50685403127	0.50322	0.30422295932755267	0.30335	0.362600631993	0.37909	0.522944569588	0.42042	T	0.031091	0.34905	T	-0.270496	0.11701	T	-0.167801	0.57644	T	0.0778058757977488	0.09703	T	0.868313	0.58915	D	0.07369873	0.16488	0.10225725	0.24504	0.07369873	0.16488	0.10225725	0.24504	-5.56	0.42425	T	.	.	0.232	0.52491	B	.;.;.;.;.	.;.;.;.;.	4.056335	0.60165	24.2	0.99819541418943236	0.90238	0.81924	0.41234	D	AEFDBI	0.818791	0.73996	D	-0.021058663997257	0.40902	2.437	-0.0910350053577366	0.35758	2.072701	0.0220632908329727	0.13401	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.41	3.46	0.38718	5.709000	0.68037	9.101000	0.78775	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.777000	0.36790	0.1043:0.0:0.8957:0.0	8.443	0.31984	611	0.66908	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1058.33	33	chr16	89885854	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=735;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=2.1;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1043	18	0	1	0
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1713.33	33	chr16	89900636	.	C	G	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.863;SOR=0.65	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1399	18	0	1	0
chr16	89919422	89919422	A	C	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.A164C:p.E55A	.	.	.	.	.	.	.	.	.	.	.	3694671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.418	0.104910429236	.	.	3.343e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs747948460	1.232e-05	1.231e-05	1.09e-05	1.376e-05	0.0002	7.7e-06	6.35e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	3.313e-05	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.007	0.92824	D	0.994	0.66517	D	0.96	0.70309	D	0.001840	0.37892	U	0.000000	0.999989	0.54805	D	3.18	0.88827	M	1.28	0.35960	T	-5.34	0.84674	D	0.751	0.75009	-0.6419	0.63065	T	0.225	0.58894	T	9	0.6704327	0.70680	D	0.10491	0.77974	D	0.418	0.72780	0.714	0.84962	0.879581146893	0.87840	0.6146647801083908	0.61398	0.122529542161	0.13806	.	.	.	0.462705	0.79895	T	-0.0188034	0.49023	T	-0.0281177	0.68494	D	0.960900247097015	0.65930	D	0.954005	0.82493	D	0.76643884	0.81835	0.730582	0.84080	0.76643884	0.81836	0.730582	0.84081	-5.231	0.39255	T	0.4813667106009674	0.55997	0.374	0.65051	A	.;.;.;.	.;.;.;.	4.246715	0.64428	24.7	0.99661195552188442	0.77947	0.96878	0.71431	D	AEFDBCI	0.928828	0.91364	D	0.580322712755851	0.71948	5.729134	0.501727721271764	0.68107	5.174608	0.999999999999958	0.74766	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.567892	0.33627	0	.	.	4.86	4.86	0.62624	6.136000	0.71452	6.874000	0.56796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	1.0:0.0:0.0:0.0	13.634	0.61682	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2098.33	34	chr16	89919422	.	A	C	2098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.161;DP=820;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=1.79;SOR=0.517	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1523	18	0	1	0
chr16	89920090	89920090	A	G	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.A832G:p.K278E	.	0	1517	5	0	0	5	0.00164528	.	.	.	401957	Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MedGen:C2751296,OMIM:613098|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0134675470302	0.0002	.	0.0003	0	0.0003	0	0.0002	0.0004	0	0.0006	0.0002717	42	154602	rs201171524	0.0003	0.0003	0.0003	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.974e-05	0.0004	0.0003	0	0.0003	0.0024	0.0003	0.0004	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	4.827e-05	0	0.0001	0	0	0.0005	0	0.0004	0	0	0.0	0.91255	D	0.154	0.63918	T	0.63	0.40197	P	0.314	0.41528	B	0.724211	0.09909	U	0.793754	0.988626	0.24389	N	1.61	0.41143	L	1.21	0.37230	T	-0.84	0.22944	N	0.186	0.21839	-1.0280	0.21103	T	0.072	0.29130	T	9	0.045355886	0.03597	T	0.013468	0.32898	T	0.074	0.21613	.	.	0.644729278666	0.64179	0.47160602733941437	0.47079	0.0600045241563	0.06676	.	.	.	0.107707	0.42013	T	-0.438843	0.01314	T	-0.475949	0.24878	T	0.0681616055686901	0.08391	T	0.849815	0.53298	T	0.2961384	0.52556	0.16556355	0.38295	0.2961384	0.52556	0.16556355	0.38295	-3.304	0.13789	T	0.13894560392902006	0.15417	0.154	0.34645	B	.;.;.;.	.;.;.;.	2.363585	0.30321	18.40	0.99671870894711823	0.78652	0.17927	0.20047	N	AEFDBCI	0.274066	0.38933	N	-0.422285117223128	0.24689	1.334925	-0.443849597376789	0.23723	1.295252	0.999998838385907	0.74766	0.660377	0.49826	0	0.659912	0.62753	0	0.654045	0.52621	0	0.592323	0.36904	0	.	.	5.27	-0.119	0.12883	-0.028000	0.12299	2.029000	0.30245	0.756000	0.94297	0.032000	0.20554	0.999000	0.35428	0.971000	0.54645	0.3844:0.5131:0.0:0.1025	9.929	0.40679	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	8678.81	42	chr16	89920090	.	A	G	8678.81	.	AC=2;AF=0.053;AN=38;DP=990;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.62;SOR=0.756	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1523	18	1	0	0
chr16	89955219	89955219	C	T	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242819:exon3:c.C175T:p.R59C,DEF8:NM_001242821:exon3:c.C175T:p.R59C,DEF8:NM_001242816:exon4:c.C175T:p.R59C,DEF8:NM_001242818:exon4:c.C175T:p.R59C,DEF8:NM_001242822:exon4:c.C175T:p.R59C,DEF8:NM_017702:exon4:c.C175T:p.R59C,DEF8:NM_207514:exon4:c.C358T:p.R120C,DEF8:NM_001242820:exon5:c.C175T:p.R59C	.	.	.	.	.	.	.	.	.	.	.	2681203	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0586702771865	.	.	2.485e-05	0	0	0	0	4.536e-05	0	0	2.59e-05	4	154602	rs762968402	2.189e-05	2.257e-05	2.451e-05	1.926e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	2.237e-05	0	0	1.881e-05	0.0003	2.068e-05	4.968e-05	2.319e-05	3.944e-05	3.94e-05	2.57e-05	5.383e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.288e-05	0	0	0.0003	0	0	0	0	0	0	0.0002	0.043	0.47745	D	0.002	0.92824	D	0.019	0.35858	B	0.009	0.24975	B	0.000005	0.62929	N	0.063724	0.999999	0.81001	D	1.355	0.33814	L	0.56	0.72348	T	-2.56	0.96317	D	0.38	0.46180	-0.8837	0.49464	T	0.158	0.49128	T	10	0.17390403	0.32241	T	0.05867	0.67400	D	0.145	0.38592	0.299	0.26522	0.406668915854	0.40277	0.507300658836585	0.50652	0.0675800255009	0.07553	0.497487306595	0.38478	T	0.075435	0.38867	T	-0.0502604	0.44407	T	-0.213118	0.53397	T	0.529666781425476	0.33722	D	0.910309	0.68205	D	0.21716122	0.44193	0.14218852	0.33836	0.21716122	0.44193	0.14218852	0.33835	-4.772	0.37622	T	.	.	0.114	0.46768	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.904806	0.56908	23.8	0.99736273679769594	0.83119	0.90282	0.51335	D	AEFDBI	0.418221	0.48595	N	-0.217303726725889	0.32423	1.828405	-0.17505766694276	0.32456	1.846724	0.999997931761496	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	2.62	0.30337	2.340000	0.43631	5.857000	0.50394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.384000	0.26424	0.0:0.7942:0.0:0.2058	8.769	0.33879	633	0.64743	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2054.33	34	chr16	89955219	.	C	T	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=784;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.564;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr16	89963378	89963378	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon9:c.A757G:p.I253V,DEF8:NM_001242819:exon9:c.A937G:p.I313V,DEF8:NM_001242816:exon10:c.A907G:p.I303V,DEF8:NM_001242818:exon10:c.A937G:p.I313V,DEF8:NM_207514:exon10:c.A1120G:p.I374V,DEF8:NM_001242820:exon11:c.A937G:p.I313V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0286510829187	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480787894	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.874e-05	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.021	0.59732	D	0.086	0.24919	B	0.053	0.30479	B	0.000002	0.62929	D	0.056835	0.99958	0.47691	D	2.015	0.55033	M	0.86	0.92208	T	-0.69	0.20358	N	0.466	0.52918	-0.8387	0.52733	T	0.157	0.48959	T	10	0.3048279	0.48004	T	0.028651	0.51291	D	0.233	0.53499	0.592	0.72123	0.552656131934	0.54924	0.3620241085093618	0.36116	0.661067558981	0.58901	0.759543120861	0.75861	T	0.075315	0.35149	T	0.210498	0.74878	D	0.0645895	0.74550	D	0.62038867879685	0.37222	D	0.948505	0.81304	D	0.15094145	0.34338	0.13441938	0.32210	0.15094145	0.34338	0.13441938	0.32209	-6.941	0.54551	T	.	.	0.268	0.50250	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.635333	0.51521	23.1	0.99542052775494949	0.70586	0.98411	0.82500	D	AEFDBI	0.824020	0.74400	D	0.0785989173915239	0.45465	2.802615	0.189113742284385	0.49249	3.130428	0.999998985236799	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	6.919000	0.75614	9.228000	0.79339	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.803	0.62705	633	0.64743	.;.;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	587.33	40	chr16	89963378	.	A	G	587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.938;DP=695;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.02;SOR=0.406	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1156	18	0	1	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R,DEF8:NM_001242819:exon12:c.A1265G:p.Q422R,DEF8:NM_001242816:exon13:c.A1286G:p.Q429R,DEF8:NM_001242818:exon13:c.A1316G:p.Q439R,DEF8:NM_207514:exon13:c.A1499G:p.Q500R,DEF8:NM_001242820:exon14:c.A1316G:p.Q439R	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	1895.83	34	chr16	89965923	.	A	G	1895.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.367;DP=775;ExcessHet=0.119;FS=1.164;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.665;SOR=0.592	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	17	0	2	0
chr16	90031430	90031430	G	T	exonic	GAS8	.	nonsynonymous SNV	GAS8:NM_001286209:exon3:c.G147T:p.K49N,GAS8:NM_001481:exon3:c.G222T:p.K74N	Ciliary dyskinesia, primary, 33, Autosomal recessive	417	1099	6	0	0	6	0.00272232	.	.	.	937694	Primary_ciliary_dyskinesia_33	MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.150	0.0336479847583	7.7e-05	0.000798722	0.0004	0	0.0001	0	0	0.0003	0	0.0017	0.0002975	46	154602	rs141234041	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0	0.0001	0.0009	2.526e-05	0	0.0016	0.0001	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	4.812e-05	0	0.0002	0.0009	0	0	0.0102	0.0002	0.0005	0.0021	0.014	0.54683	D	0.056	0.48080	T	0.611	0.39680	P	0.287	0.40572	B	0.000001	0.62929	D	0.129061	0.99986	0.50061	D	.	.	.	1.31	0.35590	T	-3.03	0.65858	D	0.376	0.41853	-0.7338	0.58771	T	0.172	0.51405	T	9	0.017458677	0.00373	T	0.033648	0.55129	D	0.150	0.39571	0.161	0.06507	0.411401001288	0.40751	0.3512760226762667	0.35041	0.0503716393686	0.05528	0.757091760635	0.75496	T	0.139446	0.47347	T	-0.378326	0.03192	T	-0.346294	0.39628	T	0.0876761991190783	0.10939	T	0.868613	0.57103	D	0.40671882	0.61195	0.38539883	0.63457	0.39318854	0.60258	0.3447799	0.60170	-10.057	0.76830	D	.	.	0.627	0.69975	P	.;.;.	.;.;.	3.308495	0.45448	22.1	0.9408440502696358	0.24236	0.92052	0.54838	D	AEFDBI	0.406341	0.47887	N	0.174013928631977	0.49953	3.190236	0.119958214712683	0.45572	2.817899	0.219354231510968	0.18337	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	0.461	0.15901	0.672000	0.24868	3.710000	0.39553	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.4309:0.0:0.5691:0.0	11.062	0.47171	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1504.33	38	chr16	90031430	.	G	T	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.242;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1458	18	0	1	0
chr17	156332	156332	G	C	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon6:c.C811G:p.L271V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0378923722275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.148e-06	0.0004	1.413e-06	2.903e-06	2.786e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.786e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.42261	T	.	.	.	.	.	.	0.016885	0.27861	U	0.144333	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.58883	-1.0508	0.14175	T	0.036	0.15553	T	8	0.41820872	0.56686	T	0.037892	0.57897	D	.	.	0.433	0.48336	0.69386598177	0.69122	0.2464546265208696	0.24559	.	.	0.655192315578	0.60723	T	0.43463	0.78165	T	-0.00325567	0.51206	T	-0.242453	0.50560	T	0.965245604515076	0.67207	D	0.975502	0.91380	D	0.11247217	0.26571	0.15176901	0.35736	0.11247217	0.26570	0.15176901	0.35735	-11.711	0.83415	D	.	.	0.699	0.72922	P	.	.	4.235216	0.64170	24.7	0.99684477266506732	0.79507	0.95032	0.63190	D	AEFBI	0.580176	0.58069	D	0.101782836407216	0.46544	2.89328	0.216068348477589	0.50737	3.262763	0.129656205550344	0.17064	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	4.133000	0.57743	11.780000	0.96086	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.011	0.86281	970	0.06235	Synaptotagmin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	161	chr17	156332	.	G	C	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.927;DP=2303;ExcessHet=0;FS=155.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=3.41;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800:.	18	0	1	0
chr17	156333	156333	G	C	exonic	DOC2B	.	nonsynonymous SNV	DOC2B:NM_003585:exon6:c.C810G:p.I270M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0243833631603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.47e-05	0.0013	4.283e-05	2.636e-05	4.414e-05	2.688e-05	2.376e-05	3.401e-05	3.048e-05	3.24e-05	0	0	0	0	0	4.414e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000363	0.45194	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.85343	-0.9649	0.38230	T	0.066	0.27225	T	8	0.7782781	0.77640	D	0.024383	0.47367	T	.	.	0.514	0.61307	0.624040304256	0.62098	0.45879918562508915	0.45797	.	.	0.767160356045	0.76999	T	0.455535	0.79466	T	0.119586	0.66331	D	-0.0659996	0.65911	T	0.989134252071381	0.79391	D	0.970503	0.89388	D	0.11444683	0.27019	0.14802454	0.35007	0.11444683	0.27018	0.14802454	0.35006	-11.209	0.80792	D	.	.	0.700	0.72967	P	.	.	4.462484	0.69472	25.4	0.99672891597423119	0.78717	0.94717	0.62088	D	AEFBI	0.578911	0.57992	D	0.364701277752433	0.59520	4.132104	0.318431218750278	0.56623	3.825885	0.00425284723597491	0.10476	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.8	2.8	0.31881	3.331000	0.51790	3.491000	0.38715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1553:0.0:0.8447:0.0	10.594	0.44517	970	0.06235	Synaptotagmin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	161	chr17	156333	.	G	C	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.944;DP=2378;ExcessHet=0;FS=155.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=3.5;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:151,0:151:99:.:.:0,120,1800:.	18	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3645.09	35	chr17	413815	.	C	*	3645.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.819;DP=806;ExcessHet=2.0973;FS=0.825;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.088;MQ=51.13;MQRankSum=-3.114;QD=9.99;ReadPosRankSum=-0.989;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,409:.	14	0	3	2
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3979.26	37	chr17	413822	.	C	*	3979.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.523;DP=846;ExcessHet=5.777;FS=0.384;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=50.36;MQRankSum=-3.06;QD=10.42;ReadPosRankSum=-1.422;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:40,0:40:0:.:.:0,0,191:.	14	0	3	2
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	3875.26	35	chr17	413824	.	C	*	3875.26	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.335;DP=838;ExcessHet=5.777;FS=0;InbreedingCoeff=-0.2941;MLEAC=3;MLEAF=0.088;MQ=49.98;MQRankSum=-2.422;QD=10.01;ReadPosRankSum=-1.376;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:38,0:38:0:.:.:0,0,337:.	14	0	3	2
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3502.03	35	chr17	413831	.	A	*	3502.03	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.862;DP=878;ExcessHet=5.0413;FS=1.291;InbreedingCoeff=-0.1846;MLEAC=4;MLEAF=0.133;MQ=49.37;MQRankSum=-2.859;QD=9.73;ReadPosRankSum=-2.316;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,0:.	12	0	3	4
chr17	747357	747357	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G686A:p.R229Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00520077273776	.	.	8.295e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs776409306	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0002	1.265e-05	1.084e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.508	0.07545	T	0.553	0.14500	T	0.072	0.23997	B	0.022	0.19653	B	0.016852	0.27871	N	0.437339	1	0.08975	N	2.08	0.57402	M	2.5	0.14408	T	0.19	0.04947	N	0.044	0.01658	-1.0127	0.26070	T	0.030	0.13023	T	10	0.06273785	0.08068	T	0.005201	0.13248	T	0.022	0.04323	.	.	0.361558571881	0.35766	0.09270868343319491	0.09202	0.150705960486	0.16997	0.220036566257	0.01312	T	0.019662	0.15622	T	-0.404092	0.02176	T	-0.636699	0.09913	T	0.049535992749366	0.05417	T	0.609739	0.23084	T	0.018488575	0.00370	0.028924419	0.01176	0.018488575	0.00370	0.028924419	0.01176	-3.569	0.17410	T	.	.	0.082	0.09045	B	.;.;.;.	.;.;.;.	0.864852	0.12376	8.912	0.65094010819872372	0.07676	0.09812	0.15482	N	AEFDBCI	0.061280	0.11703	N	-1.08593234480482	0.06902	0.3190561	-1.09746486977808	0.07750	0.3782153	0.0624746849537814	0.15264	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	2.37	0.28337	0.726000	0.25653	0.456000	0.18569	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7811:0.0:0.2189	11.467	0.49490	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1775.33	37	chr17	747357	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.444;SOR=0.666	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	18	0	1	0
chr17	747904	747904	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G139A:p.V47M	.	420	1092	10	0	0	10	0.00455789	.	.	.	727420	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0039	0.00199681	0.0028	0.0006	0.0010	0	0.0038	0.0041	0.0022	0.0008	0.002846	440	154602	rs138673289	0.0042	0.0042	0.0043	0.0040	0.0049	0.0041	0.0041	0.0048	0.0048	0.0008	0.0015	0.0001	0	0.0039	0.0040	0.0049	0.0035	0.0011	0.0028	0.0028	0.0031	0.0025	0.0047	0.0026	0.0025	0.0043	0.0042	0.0007	0	0.0018	0	0	0.0036	0.0068	0.0047	0.0028	0.0008	0.123	0.28772	T	0.19	0.69154	T	0.621	0.61118	P	0.12	0.53983	B	0.019607	0.27219	N	0.382752	0.601168	0.30939	N	1.85	0.49092	L	2.05	0.20664	T	-0.46	0.25551	N	0.193	0.43223	-1.0568	0.12569	T	0.048	0.20474	T	10	0.0063922405	0.00145	T	.	.	.	0.081	0.23632	.	.	0.453962894745	0.45019	0.15574697079243463	0.15495	0.51961977799	0.49787	0.428961634636	0.29066	T	0.017632	0.23446	T	-0.41785	0.01766	T	-0.370654	0.36813	T	0.0125486836366248	0.00208	T	0.808019	0.52437	T	0.033640083	0.03624	0.05086733	0.08071	0.031951997	0.03130	0.051007263	0.08121	-4.231	0.27198	T	.	.	0.112	0.33481	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.588435	0.33574	19.38	0.99826930527622715	0.90939	0.81393	0.40806	D	AEFDBCIJ	0.173691	0.30079	N	0.243965025340265	0.53340	3.50341	0.250636408689444	0.52686	3.441755	0.188047764720473	0.17963	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	3.67	0.41236	1.795000	0.38418	3.343000	0.37723	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.330000	0.25202	0.0:0.7381:0.0:0.2619	6.736	0.22599	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1935.33	37	chr17	747904	.	C	T	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=843;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.361;SOR=0.759	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1949,0,1787	18	0	1	0
chr17	819457	819457	G	A	exonic	NXN	.	nonsynonymous SNV	NXN:NM_001205319:exon5:c.C478T:p.R160W,NXN:NM_022463:exon5:c.C802T:p.R268W	.	432	1089	1	0	0	1	0.000458926	.	.	.	2350959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.884	0.235342799904	7.7e-05	.	0.0001	0	0	0	0.0002	0.0002	0	6.066e-05	0.0001035	16	154602	rs200792211	0.0001	0.0001	8.168e-05	0.0001	0.0005	9.115e-05	8.646e-05	0.0003	0.0003	0	2.236e-05	0	0	1.873e-05	0.0003	9.533e-05	8.279e-05	0.0005	7.222e-05	7.217e-05	8.993e-05	5.372e-05	0.0006	3.968e-05	3.125e-05	0.0002	9.011e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.001	0.78490	D	0.085	0.44106	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	-1.47	0.81067	T	-4.55	0.78553	D	0.821	0.83269	0.126	0.84632	D	0.709	0.90006	D	10	0.8253512	0.81717	D	0.235343	0.88450	D	0.884	0.96614	.	.	0.893258243892	0.89220	0.7486688022970526	0.74812	0.822995016461	0.67267	0.873582959175	0.93077	D	0.581572	0.86306	D	0.190691	0.73027	D	0.310437	0.88673	D	0.186559672603545	0.19639	T	0.975769	0.91601	D	0.53872126	0.69325	0.52312315	0.72449	0.53872126	0.69326	0.52312315	0.72449	-13.235	0.91116	D	.	.	0.528	0.71876	A	.;.;.	.;.;.	5.707895	0.93156	33	0.99571940012243998	0.72440	0.94053	0.59971	D	AEFDBI	0.741042	0.68510	D	0.592428364043491	0.72701	5.84735	0.580767759019518	0.73562	5.990822	0.432619529597635	0.20385	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.0	5.01	0.66477	4.318000	0.58981	7.347000	0.58277	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8606:0.1394	15.487	0.75307	956	0.09877	.;Thioredoxin-like fold|Thioredoxin domain;Thioredoxin-like fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1622.33	35	chr17	819457	.	G	A	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.018;SOR=0.658	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1325	18	0	1	0
chr17	1734181	1734181	G	C	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163673:exon7:c.G1535C:p.C512S,WDR81:NM_001163809:exon7:c.G5144C:p.C1715S,WDR81:NM_001163811:exon7:c.G1463C:p.C488S,WDR81:NM_152348:exon8:c.G1991C:p.C664S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.346044300793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.77e-06	2.736e-06	1.378e-06	4.176e-06	0.0003	6.5e-07	4.4e-07	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.662e-05	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.91255	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.875	0.21512	L	-2.78	0.90962	D	-8.91	0.98270	D	0.604	0.62188	0.729	0.93531	D	0.829	0.94270	D	9	0.7358939	0.74617	D	0.346044	0.92143	D	0.897	0.97097	.	.	0.824102862424	0.82243	0.7189641852024561	0.71839	0.788452715211	0.65643	0.72860622406	0.71302	T	0.219858	0.67794	T	0.451447	0.92545	D	0.410696	0.92453	D	0.985336005687714	0.76359	D	0.844516	0.52185	T	0.9551182	0.96785	0.93238395	0.97258	0.9551182	0.96786	0.93238395	0.97258	-5.032	0.44207	T	.	.	0.379	0.64274	A	.;.;.;.;.	.;.;.;.;.	4.885672	0.80171	27.3	0.99553564946860484	0.71273	0.95241	0.63962	D	AEFBHCI	0.969259	0.99167	D	0.716365464704173	0.80705	7.35384	0.713372996002185	0.83392	8.010144	0.999999999999347	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	5.48	5.48	0.80675	7.946000	0.87231	11.881000	0.98835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	18.324	0.90187	683	0.59664	.;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1129.33	43	chr17	1734181	.	G	C	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.86;DP=870;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-1.258;SOR=0.954	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr17	1769918	1769918	G	A	exonic	SERPINF1	.	nonsynonymous SNV	SERPINF1:NM_001329903:exon3:c.G151A:p.V51M,SERPINF1:NM_002615:exon3:c.G151A:p.V51M	Osteogenesis imperfecta, type VI	.	.	.	.	.	.	.	.	.	.	740627	not_provided|Osteogenesis_imperfecta|not_specified|Osteogenesis_imperfecta_type_6	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.139	.	7.7e-05	0.00559105	0.0014	0.0002	0	0.0184	0	1.499e-05	0	0.0004	0.0014618	226	154602	rs150899084	0.0005	0.0005	0.0005	0.0005	0.0117	0.0005	0.0004	0.0108	0.0105	0.0002	0.0001	0	0.0117	0	0.0003	3.237e-05	0.0023	0.0006	0.0007	0.0007	0.0006	0.0008	0.0175	0.0006	0.0006	0.0146	0.0135	0.0001	0	6.537e-05	0	0.0175	0	0	1.47e-05	0.0009	0.0019	0.284	0.15303	T	0.044	0.69154	D	0.951	0.53992	P	0.257	0.39298	B	0.090705	0.20362	N	0.544252	1	0.81001	D	2.665	0.77964	M	1.28	0.87512	T	-0.16	0.09460	N	0.175	0.18784	-1.1428	0.01257	T	0.027	0.11663	T	10	0.009355158	0.00211	T	.	.	.	0.139	0.37390	.	.	0.890675266327	0.88959	0.5842444823527361	0.58353	0.0922780189812	0.10416	0.540720820427	0.44547	T	0.049771	0.28402	T	-0.206713	0.19845	T	-0.0541107	0.66740	D	0.0334724921535293	0.02549	T	0.916508	0.70155	D	0.07177923	0.15916	0.05260933	0.08700	0.07553493	0.17022	0.046458937	0.06480	-5.303	0.39973	T	.	.	0.130	0.36772	B	.;.;.;.;.	.;.;.;.;.	3.892312	0.56638	23.8	0.99699523928408185	0.80522	0.57695	0.30444	D	ALL	0.693195	0.65260	D	0.162472537462544	0.49403	3.141191	0.251476668093129	0.52733	3.44622	0.999999999621914	0.74766	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.936000	0.28536	6.582000	0.56000	0.668000	0.69082	0.649000	0.28163	1.000000	0.68203	0.970000	0.54328	0.1909:0.0:0.8091:0.0	9.678	0.39219	636	0.64483	Pigment epithelium derived factor;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1380.33	35	chr17	1769918	.	G	A	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=795;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.016;SOR=0.448	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr17	1800130	1800130	A	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon5:c.T1264A:p.Y422N	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.179888495185	7.7e-05	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	6.288e-05	0.0001423	22	154602	rs371843964	0.0001	0.0001	0.0001	0.0001	0.0024	9.692e-05	9.17e-05	0.0015	0.0012	0	0.0003	0.0032	0	0	0.0024	2.792e-05	0.0003	2.331e-05	0.0001	0.0001	0.0001	0.0001	7.352e-05	8.168e-05	6.724e-05	2.847e-05	1.859e-05	0	0	0	0.0037	0	0	0.0034	7.352e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-1.46	0.80983	T	-7.38	0.94702	D	0.968	0.97856	0.556	0.91321	D	0.711	0.90057	D	10	0.26879334	0.44400	T	0.179888	0.85453	D	0.737	0.90852	.	.	0.930263037546	0.92955	0.8581767155878993	0.85780	0.557126499698	0.52338	0.584997475147	0.50789	T	0.155266	0.49693	T	0.197848	0.73690	D	0.362574	0.90799	D	0.4097865727169	0.29310	T	0.888511	0.61827	D	0.86659485	0.88594	0.8723563	0.93029	0.86659485	0.88596	0.8723563	0.93029	-11.721	0.83466	D	.	.	0.586	0.68305	P	.;.	.;.	3.934062	0.57522	23.9	0.9892222705063386	0.48583	0.99161	0.92128	D	AEBI	0.599337	0.59239	D	0.65105014440502	0.76436	6.486309	0.561612511409784	0.72209	5.773887	0.999998191650662	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.366000	0.90006	11.158000	0.87560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.096000	0.18090	1.0:0.0:0.0:0.0	16.558	0.84362	762	0.50290	SET domain|SET domain;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2650.33	35	chr17	1800130	.	A	T	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-1.096;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	18	0	1	0
chr17	1936785	1936785	C	T	exonic	RTN4RL1	.	nonsynonymous SNV	RTN4RL1:NM_178568:exon2:c.G1037A:p.R346Q	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	0.0022	0.00279553	0.0033	0.0005	0.0023	0.0001	0	0.0031	0.0151	0.0111	0.0028913	447	154602	rs143202933	0.0032	0.0032	0.0029	0.0034	0.0093	0.0031	0.0031	0.0087	0.0085	0.0005	0.0033	0.0039	0.0001	0.0001	0.0057	0.0030	0.0035	0.0093	0.0025	0.0025	0.0028	0.0022	0.0062	0.0023	0.0022	0.0045	0.0039	0.0006	0	0.0044	0.0037	0	9.423e-05	0.0034	0.0034	0.0038	0.0062	0.327	0.13262	T	0.608	0.07741	T	0.993	0.65571	D	0.719	0.54822	P	0.004666	0.33505	N	0.000000	0.996779	0.43409	D	1.735	0.44892	L	0.06	0.61798	T	-0.82	0.22508	N	0.18	0.19459	-0.7231	0.59309	T	0.209	0.56866	T	10	0.008575648	0.00194	T	.	.	.	0.144	0.38394	.	.	0.358048530964	0.35414	0.2416630363924649	0.24080	0.514350319551	0.49387	0.323364496231	0.13930	T	0.030742	0.21720	T	-0.434647	0.01391	T	-0.389298	0.34632	T	0.0169827822847947	0.00448	T	0.751525	0.37371	T	0.10369869	0.24510	0.07991579	0.18032	0.10369869	0.24510	0.07991579	0.18032	-4.756	0.34074	T	.	.	0.081	0.08417	B	.	.	2.942220	0.39120	20.9	0.96045160123939999	0.28547	0.95370	0.64455	D	AEFDBI	0.669398	0.63684	D	0.109229442117968	0.46892	2.92279	0.0465053014446424	0.41904	2.525323	0.997387910549224	0.35561	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	1.786000	0.38326	1.647000	0.27824	0.599000	0.40250	0.968000	0.34134	0.996000	0.32793	0.010000	0.09038	0.0:1.0:0.0:0.0	16.519	0.84155	625	0.65529	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002725	0.002924	0.050000	0.000000	0.000000	0.011364	0.02632	1007.33	33	chr17	1936785	.	C	T	1007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.04;SOR=0.652	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1359	18	0	1	0
chr17	2057111	2057113	GGC	-	exonic	HIC1	.	nonframeshift deletion	HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del	.	0	205	21	0	0	21	0.0487239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0021	0	0	0	0	0.0026	0.05	0.0011	0.0002305	6	26028	rs769002012	0.0008	0.0062	0.0006	0.0010	0.0042	0.0008	0.0008	0.0037	0.0035	0.0005	0.0017	0.0013	0.0005	0.0020	0.0008	0.0006	0.0010	0.0042	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.412e-05	0	0.0003	0	0.0002	9.612e-05	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103576	0.115385	0.120370	0.074468	0.100000	0.097561	0.084615	0.137168	0.05263	155.79	36	chr17	2057110	.	GGGC	G	155.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.641;DP=666;ExcessHet=0.119;FS=1.976;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.641;SOR=0.293	GT:AD:DP:GQ:PL	0/0:35,0:35:56:0,56,1003	17	0	2	0
chr17	2058059	2058059	G	A	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.G1426A:p.A476T,HIC1:NM_006497:exon2:c.G1369A:p.A457T	.	.	.	.	.	.	.	.	.	.	.	715293	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0494896969922	.	0.000199681	0.0024	0.0011	0.0006	0	0.0021	0.0043	0	0	0.0013325	206	154602	rs201599490	0.0047	0.0047	0.0049	0.0046	0.0059	0.0046	0.0046	0.0057	0.0057	0.0006	0.0008	0.0002	0	0.0004	0	0.0059	0.0043	4.781e-05	0.0026	0.0026	0.0029	0.0022	0.0046	0.0024	0.0023	0.0042	0.0040	0.0009	0	0.0019	0.0006	0	0.0003	0	0.0046	0.0024	0	0.154	0.28026	T	0.408	0.14633	T	0.989	0.62824	D	0.698	0.54098	P	0.000000	0.00162	N	2732.760000	0.853602	0.29552	N	0	0.06538	N	3.22	0.07353	T	-0.99	0.26200	N	0.16	0.16725	-0.9863	0.33518	T	0.026	0.11087	T	10	0.006996691	0.00159	T	0.04949	0.63837	D	0.082	0.23913	.	.	0.185906805712	0.18197	0.2552447191319026	0.25438	.	.	0.872076749802	0.92864	D	0.13563	0.46756	T	-0.578515	0.00197	T	-0.603506	0.12517	T	0.0354338972860645	0.02882	T	0.723828	0.33737	T	0.08946231	0.20904	0.112119295	0.27051	0.08946231	0.20903	0.112119295	0.27050	-7.884	0.60524	D	.	.	0.110	0.26576	B	.;.;.	.;.;.	2.653130	0.34548	19.66	0.99429858625653877	0.64227	0.78960	0.39040	D	AEFDGBHCI	0.361146	0.45087	N	0.00353070962510769	0.42014	2.523681	-0.0188158691051355	0.38866	2.295995	0.999999999999995	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.606814	0.37721	0	0.508809	0.08732	0	.	.	3.52	3.52	0.39415	2.935000	0.48657	8.435000	0.77180	0.652000	0.53365	0.237000	0.24716	1.000000	0.68203	0.373000	0.26178	0.0:0.0:1.0:0.0	10.747	0.45383	326	0.86709	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001020	0.005376	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1385.33	42	chr17	2058059	.	G	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=811;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-1.86;SOR=0.54	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr17	2058672	2058672	T	G	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.T2039G:p.F680C,HIC1:NM_006497:exon2:c.T1982G:p.F661C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0755930489494	.	.	4.187e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs756712980	5.682e-06	5.472e-06	2.816e-06	8.6e-06	8.736e-05	2.44e-06	1.77e-06	4.022e-05	2.827e-05	0	0	0	0	0	0	0	1.709e-05	8.736e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.52492	D	0.019	0.59732	D	0.993	0.65571	D	0.788	0.57636	P	.	.	.	.	0.992405	0.41636	D	0.55	0.14455	N	3.26	0.07125	T	-2.91	0.60982	D	0.435	0.50958	-1.0459	0.15563	T	0.028	0.12190	T	9	0.23497674	0.40549	T	0.075593	0.72325	D	0.190	0.46781	0.395	0.42099	0.353974658523	0.35008	0.5135231833850376	0.51274	.	.	0.790588438511	0.80533	T	0.300254	0.67275	T	-0.20259	0.20432	T	-0.264355	0.48389	T	0.426507532596588	0.29931	T	0.767423	0.39577	T	0.23956703	0.46848	0.23639423	0.48909	0.23956703	0.46848	0.23639423	0.48908	-6.079	0.47834	T	.	.	0.887	0.85602	P	.;.;.	.;.;.	5.450204	0.91039	32	0.98833237204141156	0.46985	0.70309	0.34537	D	ALL	0.864640	0.78350	D	0.333399941973558	0.57869	3.956182	0.355267185436895	0.58826	4.055647	0.999999999999989	0.74766	0.67177	0.52595	0	0.504199	0.08210	0	0.666236	0.60216	0	0.711	0.71501	0	.	.	4.23	4.23	0.49319	2.651000	0.46338	7.726000	0.67550	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.139	0.58844	324	0.86790	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001524	0.000000	0.001366	0.002976	0.000000	0.000000	0.000000	0.003788	0.02632	1499.33	42	chr17	2058672	.	T	G	1499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=838;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.513;SOR=0.847	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr17	2332333	2332333	T	-	exonic	TSR1	.	frameshift deletion	TSR1:NM_018128:exon8:c.1332delA:p.E444Dfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1978.29	36	chr17	2332332	.	AT	A	1978.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.477;DP=752;ExcessHet=0;FS=2.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.818;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1290	18	0	1	0
chr17	2334645	2334647	CCA	-	exonic	TSR1	.	nonframeshift deletion	TSR1:NM_018128:exon5:c.806_808del:p.V269del	.	432	1086	4	0	0	4	0.00183824	.	.	.	3206876	TSR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0041	0.00139776	0.0024	0.0011	0.0019	0	0.0015	0.0034	0.0011	0.0010	0.0003458	9	26028	rs570684854	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0051	0.0050	0.0008	0.0024	0.0018	0	0.0007	0.0020	0.0052	0.0040	0.0014	0.0030	0.0030	0.0029	0.0031	0.0048	0.0028	0.0027	0.0044	0.0042	0.0008	0	0.0038	0.0023	0	0.0014	0	0.0048	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1612.29	33	chr17	2334644	.	CCCA	C	1612.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.186;DP=726;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-1.724;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1206	18	0	1	0
chr17	2334851	2334851	A	G	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon5:c.T602C:p.I201T	.	434	1086	2	0	0	2	0.000919963	.	.	.	2208773	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00273626010636	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0.0022	0.0002	0.0001035	16	154602	rs150118764	8.074e-05	8.072e-05	6.808e-05	9.353e-05	0.0012	6.869e-05	6.422e-05	0.0006	0.0004	0	8.944e-05	0.0008	0	0	0.0012	5.666e-05	0.0002	0.0002	3.939e-05	3.937e-05	5.14e-05	2.685e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.94e-05	0.0005	0.0002	0.643	0.04957	T	0.581	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.295214	0.14696	N	0.725850	0.998738	0.21949	N	0.46	0.12951	N	2.86	0.10482	T	1.34	0.00900	N	0.212	0.25006	-0.9314	0.43933	T	0.012	0.04653	T	10	0.017601818	0.00377	T	0.002736	0.05637	T	0.041	0.10877	.	.	0.163833314356	0.15978	0.13666773961386516	0.13590	0.125567602171	0.14154	0.327868759632	0.14612	T	0.005806	0.05258	T	-0.470681	0.00842	T	-0.621728	0.11050	T	0.00553029121065587	0.00060	T	0.69713	0.31438	T	0.1937556	0.41098	0.1172473	0.28304	0.1937556	0.41098	0.1172473	0.28303	-0.329	0.00489	T	.	.	0.059	0.03060	B	.;.	.;.	1.049333	0.14305	10.88	0.7491023085814813	0.10873	0.19008	0.20491	N	AEFDGBHCI	0.054594	0.09940	N	-0.908968404889985	0.10631	0.5089658	-0.793451246986074	0.14655	0.7668764	0.999999447756617	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.819298	0.99467	0	0.735409	0.98432	0	.	.	5.4	-1.54	0.08130	0.720000	0.25566	2.576000	0.33390	0.756000	0.94297	0.062000	0.21832	0.999000	0.35428	0.983000	0.59808	0.5484:0.0:0.4516:0.0	11.661	0.50604	685	0.59416	Bms1/Tsr1-type G domain;Bms1/Tsr1-type G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1206.33	33	chr17	2334851	.	A	G	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.443;DP=748;ExcessHet=0;FS=2.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.12;SOR=1.091	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1220,0,1033	18	0	1	0
chr17	2372237	2372237	C	T	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon13:c.C1490T:p.S497F,SGSM2:NM_001346700:exon13:c.C1490T:p.S497F,SGSM2:NM_014853:exon14:c.C1625T:p.S542F	.	414	1098	9	1	0	11	0.00498414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0747075749649	7.7e-05	0.000199681	0.0009	0	0.0003	0	0	0.0005	0.0011	0.0045	0.0007827	121	154602	rs201675265	0.0006	0.0006	0.0005	0.0008	0.0048	0.0006	0.0006	0.0044	0.0043	0	0.0004	0	2.52e-05	1.893e-05	0.0029	0.0004	0.0010	0.0048	0.0005	0.0005	0.0004	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	4.811e-05	0	0.0002	0.0003	0	0	0	0.0006	0.0009	0.0046	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.983	0.75793	D	0.000051	0.53742	D	0.202236	1	0.81001	D	3.105	0.87672	M	2.11	0.19860	T	-5.21	0.84387	D	0.898	0.92550	-0.6543	0.62525	T	0.191	0.54374	T	10	0.071068555	0.10426	T	0.074708	0.72109	D	0.506	0.78724	.	.	0.65995756008	0.65711	0.8498161828548804	0.84943	0.622517808553	0.56515	0.769440591335	0.77341	T	0.292619	0.66534	T	-0.191595	0.22024	T	-0.046899	0.67235	D	0.170884653925896	0.18640	T	0.983602	0.97025	D	0.77296466	0.82226	0.77023005	0.86433	0.77296466	0.82228	0.77023005	0.86434	-15.805	0.97454	D	.	.	0.965	0.88693	P	.;.;.	.;.;.	5.141162	0.86075	28.8	0.99832747249886222	0.91456	0.99709	0.98858	D	AEFDBI	0.900038	0.84512	D	0.911566182926879	0.92315	11.35336	0.86242267818422	0.93720	12.23345	0.999999999993307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.42	5.42	0.78666	7.512000	0.80617	7.627000	0.62562	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.271	0.90006	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	1569.83	42	chr17	2372237	.	C	T	1569.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=728;ExcessHet=0.119;FS=1.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.422;SOR=0.904	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1048	17	0	2	0
chr17	2376152	2376152	A	C	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon18:c.A2365C:p.T789P,SGSM2:NM_001346700:exon18:c.A2365C:p.T789P,SGSM2:NM_014853:exon19:c.A2500C:p.T834P	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0251433265977	0.0006	0.000599042	0.0005	0	0.0003	0	0	0.0005	0	0.0011	0.0004398	68	154602	rs144011285	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	2.987e-05	0.0002	0	0	7.498e-05	0.0007	0.0003	0.0005	0.0007	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	7.22e-05	0	0.0005	0	0	0	0	0.0006	0.0005	0.0008	0.098	0.30800	T	0.213	0.26467	T	0.988	0.90584	D	0.877	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	3.68	0.04151	T	-2.58	0.59873	D	0.623	0.64393	-1.1504	0.01013	T	0.043	0.18368	T	10	0.21061435	0.37462	T	0.025143	0.48119	D	0.227	0.52620	.	.	0.544303689236	0.54083	0.7621731606779789	0.76165	0.591976759451	0.54614	0.8517999053	0.89886	D	0.177042	0.52720	T	-0.282481	0.10407	T	-0.260324	0.48791	T	0.181092239571574	0.19304	T	0.934107	0.75346	D	0.59391755	0.72362	0.68699676	0.81591	0.59391755	0.72363	0.68699676	0.81592	-11.179	0.81674	D	.	.	0.656	0.73475	P	.;.;.	.;.;.	4.766744	0.77121	26.6	0.99521087276763032	0.69222	0.96792	0.70964	D	AEFDBCI	0.963758	0.98574	D	0.661913883681645	0.77143	6.618105	0.650976023417332	0.78684	6.925782	0.999999999163279	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	7.476000	0.80054	9.330000	0.80123	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.178	0.65090	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2315.33	35	chr17	2376152	.	A	C	2315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=972;ExcessHet=0;FS=4.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.14;SOR=0.62	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	18	0	1	0
chr17	2730463	2730463	G	T	exonic	CCDC92B	.	nonsynonymous SNV	CCDC92B:NM_001355573:exon3:c.C161A:p.A54D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	40.72	4	chr17	2730463	.	G	T	40.72	.	AC=2;AF=0.143;AN=14;DP=19;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;QD=20.36;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	1	0	12
chr17	3126813	3126813	C	T	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.G739A:p.V247M	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.000642364353472	.	0.000399361	0.0003	0	0	0.0001	0	0	0.0011	0.0023	0.0002781	43	154602	rs531504131	0.0001	0.0001	7.079e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	5.975e-05	0	0	0.0002	0	0	1.529e-05	0.0002	0.0020	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0021	4.496e-05	3.511e-05	0.0011	0.0009	4.815e-05	0	0	0	0	0	0	0	0	0.0021	0.019	0.50132	D	0.013	0.63109	D	0.829	0.46068	P	0.609	0.51053	P	.	.	.	.	0.821554	0.28876	N	3.005	0.85968	M	8.34	0.00254	T	-2.71	0.57762	D	0.161	0.16864	-1.1372	0.01466	T	0.002	0.00646	T	9	0.020099193	0.00458	T	6.42E-4	0.00334	T	0.135	0.36572	0.542	0.65446	0.423716096872	0.41987	0.222136398075217	0.22128	0.0565549676772	0.06250	0.266233325005	0.05656	T	0.014374	0.12250	T	-0.474665	0.00795	T	-0.461863	0.26397	T	0.210668627212047	0.20988	T	0.817618	0.47476	T	0.14599596	0.33442	0.19686596	0.43439	0.14599596	0.33442	0.19686596	0.43438	-7.299	0.56188	T	.	.	0.099	0.16494	B	.	.	3.319626	0.45653	22.2	0.9985203745786092	0.93102	0.81541	0.40924	D	AEFBI	0.148472	0.27237	N	0.240565893235539	0.53173	3.487519	0.178134355263588	0.48650	3.078174	2.80195645797994E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	3.67	0.41236	1.283000	0.32843	1.374000	0.25980	-0.467000	0.05102	0.001000	0.13787	0.003000	0.18671	0.960000	0.51673	0.0:0.9123:0.0:0.0877	11.612	0.50324	721	0.55360	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2371.33	193	chr17	3126813	.	C	T	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=829;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.556;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr17	3420578	3420578	A	G	exonic	OR3A3	.	nonsynonymous SNV	OR3A3:NM_012373:exon1:c.A11G:p.Q4R	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	7.7e-05	0.00279553	0.0010	0	0.0002	0	0	1.598e-05	0.0013	0.0113	0.0010737	166	154602	rs368262416	0.0006	0.0007	0.0003	0.0009	0.0112	0.0006	0.0006	0.0106	0.0103	0	0	0	0	0	0.0017	1.022e-05	0.0003	0.0112	0.0004	0.0004	0.0002	0.0006	0.0108	0.0003	0.0003	0.0085	0.0076	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0108	0.156	0.24090	T	0.309	0.19782	T	0.099	0.25639	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	9.9	0.00001	T	-0.26	0.11185	N	0.131	0.12627	-1.2118	0.00081	T	0.000	0.00039	T	9	0.0037602484	0.00070	T	.	.	.	0.043	0.11576	.	.	0.265010934533	0.26120	0.38448871440314975	0.38363	1.20030349719	0.80521	0.30148935318	0.10622	T	0.001844	0.01261	T	-0.603788	0.00138	T	-0.630681	0.10363	T	0.0158063046522374	0.00369	T	0.279572	0.04862	T	0.05055079	0.09151	0.061214846	0.11783	0.05055079	0.09151	0.061214846	0.11782	-3.384	0.14842	T	.	.	0.077	0.06295	B	.	.	1.984574	0.25210	16.68	0.89903102077080888	0.19203	0.01516	0.05006	N	AEFDGBI	0.031331	0.03323	N	-1.00734903232589	0.08451	0.3962681	-1.02829842674182	0.09165	0.4544844	8.67750532357144E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.55	1.39	0.21325	1.664000	0.37055	2.358000	0.32355	0.733000	0.85838	0.002000	0.15269	0.010000	0.20010	0.241000	0.23027	0.5023:0.4976:0.0:0.0	6.732	0.22577	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001098	0.000000	0.000000	0.004132	0.000000	0.000000	0.003226	0.003846	0.02632	1442.33	35	chr17	3420578	.	A	G	1442.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.124;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-2.876;QD=11.36;ReadPosRankSum=-0.381;SOR=0.723	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1710	18	0	1	0
chr17	3440331	3440331	T	C	exonic	SPATA22	.	stoploss	SPATA22:NM_001170699:exon8:c.A810G:p.X270W	.	453	1068	0	1	0	2	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.018	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000057	0.53742	D	0.072064	0.995928	0.42925	D	.	.	.	-1.3	0.79571	T	-4.45	0.77717	D	0.433	0.53620	-0.4800	0.69366	T	0.337	0.70395	T	9	0.5070008	0.61876	D	.	.	.	0.505	0.78662	0.271	0.22052	0.69178495124	0.68913	0.5965343594333087	0.59583	0.182182223712	0.20484	0.448675990105	0.31763	T	0.183606	0.53600	T	0.248496	0.78461	D	0.119171	0.78180	D	0.99804013967514	0.93084	D	0.879412	0.59551	D	0.30426583	0.53284	0.4330833	0.66873	0.30426583	0.53284	0.4330833	0.66873	-9.146	0.69821	D	0.8416894941573636	0.91005	0.374	0.58185	A	.;.;.;.;.;.	.;.;.;.;.;.	4.628874	0.73573	26.0	0.99919080921250514	0.98586	0.94698	0.62023	D	AEFDI	0.780994	0.71271	D	0.299516499465687	0.56125	3.776748	0.390314620867087	0.60965	4.290437	0.688022354931017	0.22556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	3.212000	0.50847	4.871000	0.45567	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.479	0.75235	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	549.33	43	chr17	3440331	.	T	C	549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.623;DP=632;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/0:12,0:12:30:0,30,450	18	0	1	0
chr17	3524241	3524241	C	T	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon13:c.G1700A:p.R567Q,TRPV3:NM_145068:exon13:c.G1700A:p.R567Q	Olmsted syndrome, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	877248	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.886	0.256729105531	7.7e-05	.	9.89e-05	0	8.643e-05	0.0001	0	8.997e-05	0	0.0002	9.06e-05	14	154602	rs199905369	8.619e-05	8.619e-05	8.031e-05	9.213e-05	0.0035	7.353e-05	6.903e-05	0.0023	0.0019	0.0001	6.708e-05	0	7.557e-05	3.744e-05	0.0035	7.194e-05	0.0001	8.115e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.576e-05	6.281e-05	7.907e-05	5.993e-05	0.0001	0	0.0001	0	0.0002	0	0	0.0001	0	0	0.0	0.91255	D	0.006	0.76473	D	1.0	0.90584	D	0.933	0.68276	D	0.000003	0.62929	D	0.000000	0.999696	0.48338	D	2.75	0.80375	M	-2.26	0.87352	D	-3.73	0.70920	D	0.908	0.90932	0.682	0.92952	D	0.770	0.92192	D	10	0.895735	0.88926	D	0.256729	0.89341	D	0.886	0.96688	.	.	0.826891425671	0.82525	0.8711168333737604	0.87077	0.73894062318	0.63132	0.5955042243	0.52269	T	0.763126	0.93599	D	0.219908	0.75767	D	0.342534	0.90019	D	0.696959376335144	0.40574	D	0.960604	0.85218	D	0.74979055	0.80856	0.6526073	0.79669	0.74979055	0.80857	0.6526073	0.79670	-8.313	0.63183	D	.	.	0.821	0.82441	P	.;.;.;.	.;.;.;.	5.410671	0.90568	31	0.99951088066309857	0.99944	0.98625	0.84843	D	AEFDGBI	0.860243	0.77807	D	0.629390167832783	0.75041	6.236405	0.569106711986376	0.72738	5.857206	0.985931806959625	0.30975	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	4.26	0.49832	7.533000	0.80893	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.9233:0.0:0.0767	13.280	0.59643	710	0.56735	Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.010101	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	756.33	40	chr17	3524241	.	C	T	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.357;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=-0.105;SOR=0.692	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1316	18	0	1	0
chr17	3526903	3526903	G	A	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon12:c.C1528T:p.P510S,TRPV3:NM_145068:exon12:c.C1528T:p.P510S	Olmsted syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3344503	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.587	0.222903428975	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs763691919	5.48e-06	7.524e-06	4.088e-06	6.888e-06	0.0001	2.36e-06	1.7e-06	3.349e-05	1.982e-05	0	0	0	0.0001	0	0	8.999e-07	1.657e-05	2.338e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.118	0.28148	T	0.462	0.13403	T	0.986	0.62824	D	0.88	0.66185	P	0.000289	0.46274	D	0.096661	0.996148	0.43041	D	1.795	0.47270	L	-5.02	0.98562	D	-0.78	0.21644	N	0.565	0.63713	1.039	0.97892	D	0.927	0.97581	D	10	0.5064998	0.61849	D	0.222903	0.87876	D	0.587	0.83471	0.505	0.59924	0.886119948663	0.88500	0.8075157376070399	0.80706	0.626975998192	0.56810	0.770802259445	0.77544	T	0.374087	0.73796	T	0.206887	0.74537	D	0.0594028	0.74205	D	0.762470662593842	0.43994	D	0.888311	0.61778	D	0.17550956	0.38413	0.12269173	0.29593	0.17550956	0.38413	0.12269173	0.29592	-6.743	0.52298	T	.	.	0.557	0.67107	A	.;.;.;.	.;.;.;.	4.141316	0.62054	24.4	0.9990219491917991	0.97350	0.96329	0.68606	D	AEFBI	0.740621	0.68481	D	0.471621490114857	0.65439	4.822764	0.529343361625435	0.69975	5.43742	0.993078261080149	0.33075	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.617000	0.74079	8.518000	0.77413	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.575	0.87845	706	0.57215	Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	33	chr17	3526903	.	G	A	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=778;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.139;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr17	3592313	3592313	G	A	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon1:c.C38T:p.A13V,TRPV1:NM_018727:exon2:c.C38T:p.A13V,TRPV1:NM_080705:exon2:c.C38T:p.A13V,TRPV1:NM_080704:exon3:c.C38T:p.A13V	.	403	1113	5	1	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.125244798646	0.0011	0.000798722	0.0012	0.0024	0.0018	0	0.0004	0.0015	0.0062	9.246e-05	0.0007633	118	154602	rs200164496	0.0008	0.0008	0.0008	0.0008	0.0054	0.0007	0.0007	0.0039	0.0034	0.0013	0.0013	3.887e-05	7.675e-05	0.0001	0.0054	0.0008	0.0016	5.942e-05	0.0010	0.0010	0.0010	0.0010	0.0022	0.0008	0.0008	0.0016	0.0014	0.0013	0	0.0022	0	0	9.413e-05	0	0.0007	0.0024	0.0004	0.036	0.52492	D	0.121	0.36101	T	0.057	0.38231	B	0.002	0.20792	B	0.376835	0.13446	N	0.708802	1	0.18612	N	0.345	0.11182	N	-2.39	0.88377	D	-0.7	0.23156	N	0.077	0.09349	-0.6167	0.64126	T	0.348	0.71233	T	10	0.006970763	0.00158	T	0.125245	0.80673	D	0.236	0.53931	.	.	0.271763555656	0.26798	0.13979746884530675	0.13902	0.0680820293278	0.07622	0.264905869961	0.05489	T	0.269293	0.64148	T	-0.374833	0.03357	T	-0.351732	0.39008	T	0.00108602810552265	0.00010	T	0.535446	0.17943	T	0.034376018	0.03846	0.037127137	0.03300	0.034376018	0.03846	0.037127137	0.03299	-4.262	0.27641	T	.	.	0.075	0.14247	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.162210	0.05527	1.987	0.76431502026006071	0.11465	0.01855	0.05732	N	AEFDBI	0.034360	0.04242	N	-1.5033992782936	0.01828	0.08011762	-1.48157129497796	0.02496	0.1148705	6.69118265653116E-4	0.07575	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.19	0.443	0.15798	-0.394000	0.07357	0.491000	0.18902	-2.797000	0.00186	0.000000	0.06391	0.006000	0.19429	0.000000	0.00833	0.2955:0.086:0.1791:0.4395	1.264	0.01885	749	0.51929	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.040404	0.025815	0.005848	0.000000	0.000000	0.003049	0.003788	0.05263	4325.81	33	chr17	3592313	.	G	A	4325.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.8;SOR=0.895	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	18	1	0	0
chr17	3592324	3592324	C	G	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon1:c.G27C:p.L9F,TRPV1:NM_018727:exon2:c.G27C:p.L9F,TRPV1:NM_080705:exon2:c.G27C:p.L9F,TRPV1:NM_080704:exon3:c.G27C:p.L9F	.	401	1116	4	1	0	6	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.105454324509	0.0013	0.00159744	0.0020	0.0069	0.0025	0	0.0004	0.0021	0.0045	9.486e-05	0.0010802	167	154602	rs146598604	0.0008	0.0008	0.0008	0.0008	0.0060	0.0008	0.0008	0.0044	0.0039	0.0043	0.0014	0.0057	5.133e-05	0.0001	0.0060	0.0006	0.0020	7.146e-05	0.0019	0.0019	0.0019	0.0020	0.0042	0.0017	0.0017	0.0037	0.0035	0.0042	0	0.0024	0.0081	0	9.42e-05	0	0.0006	0.0024	0.0002	0.187	0.21385	T	0.157	0.31730	T	0.21	0.29968	B	0.125	0.32635	B	0.017854	0.01475	N	2.325170	1	0.08975	N	0.55	0.14455	N	-2.4	0.88533	D	-0.34	0.14782	N	0.058	0.11912	-0.5345	0.67371	T	0.373	0.73213	T	10	0.003916204	0.00075	T	0.105454	0.78057	D	0.202	0.48754	0.061	0.00225	0.239305524855	0.23518	0.0785766688435	0.07792	0.0684681097478	0.07664	0.301225244999	0.10583	T	0.268259	0.64036	T	-0.462044	0.00955	T	-0.436478	0.29202	T	0.00968678085319048	0.00126	T	0.575442	0.20674	T	0.033387255	0.03547	0.034694582	0.02582	0.033387255	0.03546	0.034694582	0.02582	-5.121	0.38128	T	.	.	0.063	0.05756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.623986	0.00228	0.003	0.82932183870476561	0.14452	0.05411	0.11281	N	AEFDBI	0.093276	0.18874	N	-1.67011620784549	0.00953	0.04129012	-1.80125414971469	0.00755	0.03366513	0.989464000909193	0.31835	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.19	-9.37	0.00530	-2.013000	0.01538	-2.717000	0.03435	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1061:0.6029:0.0:0.291	10.361	0.43179	749	0.51929	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.040404	0.027174	0.008772	0.000000	0.000000	0.006098	0.000000	0.05263	3759.81	33	chr17	3592324	.	C	G	3759.81	.	AC=2;AF=0.053;AN=38;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.57;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	18	1	0	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P,TAX1BP3:NM_014604:exon4:c.T368C:p.L123P	.	419	1061	39	3	0	45	0.020766	.	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012133	0.015152	0.010870	0.002924	0.000000	0.026316	0.012422	0.011364	0.05263	595.83	42	chr17	3663755	.	A	G	595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.667;DP=654;ExcessHet=0.119;FS=3.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.402;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	17	0	2	0
chr17	3679708	3679708	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.C1069T:p.P357S,P2RX5:NM_175080:exon10:c.C1066T:p.P356S,P2RX5:NM_001204519:exon11:c.C1138T:p.P380S,P2RX5:NM_002561:exon11:c.C1141T:p.P381S	.	398	1120	4	0	0	4	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00257416159514	.	0.00139776	0.0006	0	0	0	0	9.055e-05	0.0011	0.0038	0.0005175	80	154602	rs551135311	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0032	0.0030	2.987e-05	0	0	0	0	0.0003	3.418e-05	0.0005	0.0035	0.0001	0.0001	7.713e-05	0.0002	0.0039	8.663e-05	7.255e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0.0005	0.0039	0.015	0.61437	D	0.02	0.62352	D	0.149	0.59353	B	0.08	0.61067	B	0.001530	0.00796	N	3.984380	1	0.08975	N	0.345	0.11182	N	3.7	0.07236	T	-1.67	0.39887	N	0.121	0.19459	-1.0377	0.18016	T	0.025	0.10598	T	10	0.006128013	0.00138	T	0.002574	0.05178	T	0.050	0.13987	0.185	0.09388	0.0846915920261	0.08053	0.3055427201863783	0.30467	0.142616884564	0.16085	0.377548962831	0.21908	T	0.043312	0.29805	T	-0.601028	0.00144	T	-0.636256	0.09944	T	0.0266673105655771	0.01497	T	0.529847	0.17555	T	0.037309535	0.04758	0.043349598	0.05373	0.037309535	0.04757	0.043349598	0.05373	-3.421	0.16014	T	.	.	0.085	0.17488	B	.;.;.;.;.;.	.;.;.;.;.;.	0.677094	0.10455	7.174	0.94058116700210925	0.24191	0.05624	0.11532	N	AEFDBCI	0.034195	0.04193	N	-1.13901665863811	0.05963	0.2732477	-1.2922458268647	0.04535	0.2141128	0.0430928028723366	0.14555	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	1.48	-1.63	0.07900	-0.099000	0.10976	0.545000	0.19369	-0.936000	0.02120	0.018000	0.19461	0.001000	0.17328	0.000000	0.00833	0.2334:0.0:0.4512:0.3153	1.884	0.03037	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1014.33	41	chr17	3679708	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.63;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.49;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	18	0	1	0
chr17	3885714	3885714	G	A	exonic	CAMKK1	.	nonsynonymous SNV	CAMKK1:NM_172206:exon2:c.C55T:p.R19C	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0297708733378	0.0041	0.000798722	0.0036	0.0017	0.0067	0	0.0012	0.0046	0.0057	0.0014	0.0036287	561	154602	rs188101980	0.0046	0.0045	0.0045	0.0046	0.0069	0.0045	0.0044	0.0052	0.0050	0.0012	0.0057	0.0032	0	0.0019	0.0069	0.0051	0.0045	0.0018	0.0033	0.0033	0.0036	0.0031	0.0052	0.0031	0.0030	0.0046	0.0045	0.0008	0	0.0052	0.0026	0	0.0013	0.0102	0.0051	0.0085	0.0010	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.48	0.70249	T	-0.45	0.14782	N	0.116	0.10483	-0.8187	0.54015	T	0.206	0.56417	T	6	0.004569292	0.00095	T	0.029771	0.52214	D	0.096	0.27654	.	.	0.781684960334	0.77967	0.17557538755891144	0.17476	.	.	.	.	.	.	.	.	-0.539965	0.00335	T	-0.543973	0.17910	T	0.0334987153603102	0.02554	T	0.508649	0.16166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33619	B	.	.	1.118136	0.15040	11.54	0.54611587481415802	0.05173	0.05755	0.11685	N	AEFDGBI	0.115596	0.22721	N	-0.528808598287209	0.21152	1.120505	-0.692809117236928	0.17140	0.9100453	0.999987122559275	0.51787	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.75052	0.99595	0	.	.	4.45	1.02	0.19102	0.459000	0.21619	1.436000	0.26487	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.017000	0.10941	0.3822:0.0:0.6178:0.0	6.003	0.18760	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	527.33	33	chr17	3885714	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.083;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	18	0	1	0
chr17	4044307	4044307	C	G	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon38:c.G6083C:p.G2028A	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	7.7e-05	0.00259585	0.0019	0	0.0006	0	0	0.0004	0.0044	0.0120	0.0016494	255	154602	rs151149603	0.0009	0.0009	0.0006	0.0013	0.0115	0.0009	0.0009	0.0109	0.0107	2.987e-05	0.0004	3.826e-05	0	0	0.0097	0.0002	0.0012	0.0115	0.0006	0.0006	0.0004	0.0008	0.0126	0.0005	0.0005	0.0101	0.0092	2.406e-05	0	0.0001	0	0.0004	0	0.0170	0.0002	0.0009	0.0126	0.241	0.17643	T	0.53	0.10103	T	0.003	0.11197	B	0.004	0.10090	B	0.882106	0.07242	N	1.047910	1	0.08975	N	1.555	0.39373	L	2.11	0.19860	T	-0.68	0.19509	N	0.077	0.05162	-0.9662	0.37974	T	0.029	0.12322	T	10	0.0049475133	0.00106	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.20937891174840828	0.20853	0.162595922452	0.18349	0.240127101541	0.02802	T	0.023865	0.18141	T	-0.595439	0.00155	T	-0.617696	0.11365	T	0.0126270111570545	0.00211	T	0.487551	0.14930	T	0.10358155	0.24484	0.046638146	0.06545	0.10358155	0.24484	0.046638146	0.06544	-3.109	0.11399	T	.	.	0.062	0.01328	B	.	.	-0.290783	0.02658	0.339	0.13689038642372695	0.00278	0.03544	0.08741	N	AEFBI	0.032775	0.03765	N	-1.24596662939559	0.04353	0.196298	-1.2823146615358	0.04669	0.2207916	0.00323453994887199	0.10007	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.32	-0.914	0.09963	-0.132000	0.10446	-2.002000	0.04363	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.4045:0.3546:0.2409	4.273	0.10243	232	0.90957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.004076	0.011696	0.000000	0.025862	0.003049	0.011364	0.02632	1012.33	92	chr17	4044307	.	C	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.152;DP=1092;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.45;SOR=0.683	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1026,0,1785	18	0	1	0
chr17	4449297	4449297	G	C	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon6:c.G452C:p.G151A,SPNS3:NM_182538:exon7:c.G833C:p.G278A	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	7.7e-05	0.00279553	0.0021	0.0002	0.0002	0	0	0.0001	0.0022	0.0150	0.0018758	290	154602	rs201912448	0.0008	0.0008	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	2.989e-05	6.725e-05	0.0001	0	0	0.0017	4.587e-05	0.0008	0.0129	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	7.22e-05	0	6.544e-05	0	0	0	0.0034	7.351e-05	0	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.026	0.20792	B	0.000153	0.49130	D	0.178889	0.689164	0.33309	D	0.755	0.19153	N	0.37	0.57729	T	-0.09	0.08340	N	0.13	0.12484	-1.0081	0.27510	T	0.076	0.30522	T	10	0.0063791275	0.00144	T	.	.	.	0.094	0.27141	.	.	0.319970858106	0.31615	0.6738670218785657	0.67324	0.141389581085	0.15943	0.596584022045	0.52422	T	0.085738	0.37569	T	-0.423821	0.01618	T	-0.36989	0.36902	T	0.0358673044877379	0.02957	T	0.889011	0.61998	D	0.10377086	0.24529	0.16555831	0.38294	0.10377086	0.24529	0.16555831	0.38293	-5.956	0.45909	T	.	.	0.155	0.34205	B	.	.	3.074346	0.41339	21.3	0.27446281871379524	0.01363	0.73814	0.36105	D	AEFDBI	0.382196	0.46417	N	-0.286664669613745	0.29663	1.646946	-0.050988463508262	0.37448	2.192712	0.0920350723014115	0.16149	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	4.173000	0.58043	9.822000	0.81809	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1736:0.8264:0.0	12.091	0.53028	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	269.33	39	chr17	4449297	.	G	C	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=810;ExcessHet=0;FS=3.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-1.449;SOR=1.258	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr17	4542708	4542708	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon21:c.C2926T:p.R976W,MYBBP1A:NM_014520:exon21:c.C2926T:p.R976W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.063451191613	0.0015	0.000399361	0.0015	0.0010	0.0003	0	0	0.0022	0	0.0013	0.0015977	247	154602	rs143029758	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0030	0.0005	0.0002	0.0001	0	0.0002	0.0002	0.0032	0.0011	0.0014	0.0018	0.0018	0.0017	0.0018	0.0032	0.0016	0.0015	0.0028	0.0027	0.0008	0.0044	0.0003	0	0	0	0	0.0032	0.0014	0.0012	0.029	0.45756	D	0.019	0.59159	D	0.986	0.61523	D	0.711	0.54536	P	0.764002	0.06557	N	1.100790	1	0.08975	N	0.345	0.11182	N	-0.44	0.69777	T	-2.07	0.47344	N	0.337	0.37820	-0.8616	0.51147	T	0.252	0.62131	T	10	0.022168696	0.00547	T	0.063451	0.68972	D	0.251	0.56024	.	.	0.940336110857	0.93971	0.23521108640985358	0.23436	.	.	0.223103106022	0.01497	T	0.240351	0.60865	T	-0.396924	0.02425	T	-0.34472	0.39809	T	0.0241436254749722	0.01163	T	0.658834	0.26791	T	0.05392518	0.10274	0.033472173	0.02247	0.05392518	0.10273	0.033472173	0.02247	-8.132	0.61966	D	.	.	0.122	0.25462	B	.;.	.;.	2.400929	0.30846	18.56	0.99810453230533025	0.89442	0.16760	0.19536	N	AEFDBCI	0.189638	0.31689	N	-0.384000778784385	0.26038	1.418065	-0.549621658930158	0.20816	1.123263	0.0125205971477165	0.12338	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.7	1.05	0.19280	-0.244000	0.08921	2.706000	0.34198	-0.119000	0.14319	0.000000	0.06391	0.846000	0.27345	0.000000	0.00833	0.0954:0.3139:0.4294:0.1613	3.373	0.06806	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1545.33	34	chr17	4542708	.	G	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=702;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=0.526;SOR=0.9	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	18	0	1	0
chr17	4548212	4548214	AGG	-	exonic	MYBBP1A	.	nonframeshift deletion	MYBBP1A:NM_001105538:exon12:c.1653_1655del:p.L553del,MYBBP1A:NM_014520:exon12:c.1653_1655del:p.L553del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.059e-06	2.052e-06	1.366e-06	2.758e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1557.29	41	chr17	4548211	.	CAGG	C	1557.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.898;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	18	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.02632	1131.33	98	chr17	4554215	.	C	G	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=731;ExcessHet=0;FS=3.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.279;SOR=1.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	18	0	1	0
chr17	4558065	4558065	C	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.G1336A:p.A446T,GGT6:NM_001122890:exon4:c.G1432A:p.A478T,GGT6:NM_001288702:exon4:c.G1450A:p.A484T	.	.	.	.	.	.	.	.	.	.	.	3254657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00652586261271	.	.	9.209e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs762142364	3.481e-06	4.788e-06	2.759e-06	4.217e-06	3.641e-06	1.02e-06	7.4e-07	8.5e-07	5.8e-07	0	0	4.198e-05	0	0	0	3.641e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.23631	T	0.198	0.27767	T	0.265	0.31634	B	0.02	0.19048	B	0.018567	0.27453	N	0.299558	0.999584	0.20930	N	0.85	0.21244	L	1.87	0.46412	T	-1.12	0.28906	N	0.13	0.19325	-1.0481	0.14932	T	0.038	0.16419	T	10	0.0863747	0.14674	T	0.006526	0.17186	T	0.027	0.05988	0.343	0.33626	0.451023696535	0.44722	0.14924313155196556	0.14846	0.072440709236	0.08123	0.303944349289	0.10992	T	0.004964	0.04384	T	-0.330548	0.06071	T	-0.62972	0.10436	T	0.0853935239741265	0.10662	T	0.630137	0.24490	T	0.036050644	0.04359	0.06053699	0.11545	0.036050644	0.04359	0.06053699	0.11545	-3.921	0.25320	T	.	.	0.099	0.16713	B	.;.;.;.	.;.;.;.	1.612051	0.20598	14.82	0.93570161618312608	0.23412	0.40349	0.26417	N	AEFDBI	0.113795	0.22439	N	-0.500610546867604	0.22060	1.175327	-0.374844737804692	0.25750	1.417962	0.999965877770911	0.48965	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.09	0.47038	0.401000	0.20673	1.096000	0.24025	-0.176000	0.10722	0.078000	0.22289	0.583000	0.25631	0.544000	0.30032	0.0:0.9036:0.0:0.0964	9.770	0.39752	735	0.53711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1301.33	34	chr17	4558065	.	C	T	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=714;ExcessHet=0;FS=0.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=0.134;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	0	1	0
chr17	4558172	4558172	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C1229T:p.P410L,GGT6:NM_001122890:exon4:c.C1325T:p.P442L,GGT6:NM_001288702:exon4:c.C1343T:p.P448L	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0097	0.00459265	0.0076	0.0016	0.0054	0	0.0048	0.0114	0.0133	0.0024	0.007626	1179	154602	rs77762950	0.0091	0.0091	0.0090	0.0092	0.0160	0.0090	0.0089	0.0133	0.0123	0.0017	0.0076	0.0195	2.519e-05	0.0034	0.0160	0.0102	0.0092	0.0026	0.0086	0.0086	0.0084	0.0087	0.0134	0.0082	0.0080	0.0119	0.0113	0.0017	0.1316	0.0134	0.0196	0.0002	0.0044	0.0102	0.0111	0.0137	0.0019	0.018	0.50676	D	0.966	0.02509	T	0.979	0.59044	D	0.747	0.55931	P	0.541062	0.11536	N	0.774976	0.997841	0.22480	N	2.085	0.57729	M	1.92	0.44461	T	-2.82	0.59545	D	0.3	0.41952	-1.0912	0.05335	T	0.054	0.22846	T	10	0.0035294294	0.00063	T	.	.	.	0.097	0.27909	.	.	0.603641259496	0.60047	0.3289904677725707	0.32812	0.217854078565	0.24320	0.282811880112	0.07887	T	0.005573	0.05022	T	-0.549481	0.00294	T	-0.55168	0.17165	T	0.024875988888992	0.01256	T	0.615039	0.23503	T	0.05866649	0.11831	0.10704525	0.25763	0.05866649	0.11830	0.10704525	0.25762	-3.931	0.22768	T	.	.	0.098	0.16407	B	.;.;.;.	.;.;.;.	2.262537	0.28910	17.95	0.9475073979397578	0.25451	0.70330	0.34546	D	AEFDBI	0.233775	0.35664	N	0.186513178198232	0.50551	3.244076	0.167432526251457	0.48072	3.028262	0.999948598767882	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.02	0.45968	1.881000	0.39273	3.783000	0.39798	0.676000	0.76740	0.485000	0.26840	0.998000	0.33993	0.023000	0.12082	0.0:0.0:0.8031:0.1969	10.277	0.42694	735	0.53711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.010101	0.017663	0.011696	0.050000	0.025862	0.033537	0.007576	0.02632	1048.33	34	chr17	4558172	.	G	A	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=743;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.662;SOR=1.055	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	18	0	1	0
chr17	4559009	4559009	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C392T:p.T131M,GGT6:NM_001122890:exon4:c.C488T:p.T163M,GGT6:NM_001288702:exon4:c.C506T:p.T169M	.	414	1099	8	1	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00880709847543	.	0.00199681	0.0026	0	0.0037	0	0	0.0035	0	0.0026	0.0007633	118	154602	rs201922735	0.0024	0.0023	0.0023	0.0024	0.0050	0.0023	0.0023	0.0035	0.0030	0.0003	0.0014	0.0067	0	0.0007	0.0050	0.0024	0.0041	0.0030	0.0017	0.0017	0.0017	0.0017	0.0029	0.0015	0.0015	0.0020	0.0019	0.0005	0	0.0019	0.0084	0	0.0003	0.0136	0.0023	0.0014	0.0029	0.11	0.29158	T	0.233	0.25135	T	1.0	0.90584	D	0.998	0.92359	D	0.170348	0.17393	N	0.569313	1	0.08975	N	2.295	0.65404	M	3.08	0.48769	T	-2.17	0.49018	N	0.141	0.14054	-1.0805	0.07252	T	0.031	0.13418	T	10	0.007942945	0.00180	T	0.008807	0.23245	T	0.063	0.18251	.	.	0.508223314113	0.50461	0.33637562567662255	0.33550	0.0832408400961	0.09385	0.428785145283	0.29042	T	0.012462	0.10952	T	-0.482099	0.00719	T	-0.470516	0.25460	T	0.0171128701522512	0.00457	T	0.726827	0.34112	T	0.025839284	0.01567	0.068452805	0.14297	0.025839284	0.01567	0.068452805	0.14297	-7.162	0.56820	T	.	.	0.129	0.27702	B	.;.;.;.	.;.;.;.	1.463557	0.18867	13.97	0.99028590136114714	0.50742	0.02012	0.06052	N	AEFBI	0.072545	0.14482	N	-0.225247907570315	0.32100	1.806776	-0.446161772422079	0.23658	1.291308	0.991187961090667	0.32402	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.99	1.27	0.20595	0.215000	0.17352	2.765000	0.34631	0.674000	0.70861	0.001000	0.13787	0.998000	0.33993	0.047000	0.14932	0.2717:0.2172:0.5111:0.0	3.328	0.06660	735	0.53711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004108	0.000000	0.003205	0.009434	0.000000	0.000000	0.003497	0.004464	0.02632	435.33	34	chr17	4559009	.	G	A	435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=673;ExcessHet=0;FS=4.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.256;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	18	0	1	0
chr17	4592966	4592966	C	A	exonic	SMTNL2	.	nonsynonymous SNV	SMTNL2:NM_001114974:exon3:c.C525A:p.F175L,SMTNL2:NM_198501:exon3:c.C93A:p.F31L	.	424	1073	25	0	0	25	0.0115154	.	.	.	740829	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0360831208966	0.0019	0.000399361	0.0018	0.0002	0.0027	0.0001	0.0002	0.0025	0.0044	0.0005	0.0018111	280	154602	rs145126598	0.0025	0.0025	0.0026	0.0024	0.0101	0.0025	0.0025	0.0080	0.0072	0.0004	0.0021	0.0037	0	0.0001	0.0101	0.0029	0.0029	0.0005	0.0019	0.0019	0.0020	0.0017	0.0030	0.0017	0.0016	0.0027	0.0026	0.0005	0	0.0024	0.0020	0	0.0002	0.0034	0.0030	0.0057	0.0002	0.102	0.30235	T	0.641	0.06948	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.67	0.42885	L	-1.35	0.80214	T	-0.39	0.15986	N	0.117	0.10626	-0.9173	0.45918	T	0.275	0.64639	T	9	0.008154988	0.00185	T	0.036083	0.56766	D	0.072	0.21020	0.132	0.03662	0.479133204078	0.47542	0.16857906858396557	0.16777	0.406464777723	0.41524	0.450155854225	0.31965	T	6.54E-4	0.00285	T	-0.487252	0.00673	T	-0.472276	0.25272	T	0.000269420048464339	0.00002	T	0.318868	0.06391	T	0.04020663	0.05696	0.03238495	0.01966	0.04020663	0.05696	0.03238495	0.01965	-1.322	0.01482	T	.	.	0.317	0.54316	B	.;.	.;.	0.458615	0.08286	5.030	0.86060079012006774	0.16287	0.03520	0.08703	N	AEFDBI	0.062606	0.12045	N	-0.99916630538342	0.08622	0.4049587	-1.06251479446449	0.08447	0.4154179	0.00303772998690517	0.09882	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.75	-1.24	0.08948	0.242000	0.17862	-0.174000	0.11198	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4654:0.2891:0.1516:0.0939	2.772	0.05008	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.004087	0.014620	0.000000	0.025862	0.009146	0.003788	0.05263	2982.83	43	chr17	4592966	.	C	A	2982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.131;DP=910;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.16;SOR=0.734	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1400	17	0	2	0
chr17	4672799	4672799	C	T	exonic	PELP1	.	nonsynonymous SNV	PELP1:NM_014389:exon16:c.G2192A:p.R731Q,PELP1:NM_001278241:exon17:c.G1751A:p.R584Q	.	413	1099	8	2	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0124175127691	0.0008	0.000599042	0.0004	0	0.0002	0	0	0.0005	0	0.0008	0.0004204	65	154602	rs202062234	0.0005	0.0005	0.0005	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	5.975e-05	0.0002	0	0	7.492e-05	0.0005	0.0005	0.0008	0.0008	0.0004	0.0004	0.0004	0.0003	0.0015	0.0003	0.0003	0.0007	0.0005	7.222e-05	0	0.0002	0	0.0004	0	0	0.0006	0	0.0015	0.022	0.48642	D	0.212	0.26549	T	0.99	0.63424	D	0.629	0.51727	P	0.002438	0.36574	N	0.185444	0.946737	0.30760	N	0.895	0.22405	L	0.68	0.51952	T	0.19	0.04947	N	0.455	0.51137	-1.0222	0.22998	T	0.091	0.34928	T	10	0.025797129	0.00763	T	0.012418	0.30977	T	0.097	0.27909	.	.	0.559688537222	0.55629	0.2339080848999698	0.23305	0.204442686565	0.22868	0.46943834424	0.34603	T	0.013586	0.11722	T	-0.359319	0.04168	T	-0.329446	0.41530	T	0.0659177178686466	0.08066	T	0.89811	0.64401	D	0.036891542	0.04625	0.07755268	0.17287	0.036891542	0.04625	0.07755268	0.17286	-3.972	0.23383	T	.	.	0.092	0.15743	B	.;.;.;.	.;.;.;.	3.344807	0.46102	22.2	0.9854796658525864	0.42808	0.77771	0.38278	D	AEFDBI	0.331240	0.43103	N	0.211236840862183	0.51743	3.353203	0.304127460984661	0.55781	3.741027	0.420772587105467	0.20289	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.213000	0.32011	2.207000	0.31336	0.596000	0.33519	0.997000	0.40164	0.999000	0.35428	0.997000	0.79791	0.0:0.9095:0.0:0.0905	10.165	0.42050	784	0.47045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.008824	0.000000	0.017241	0.000000	0.003788	0.02632	1524.33	43	chr17	4672799	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.24;DP=853;ExcessHet=0;FS=9.398;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.215;SOR=0.233	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr17	4739332	4739332	C	G	exonic	CXCL16	.	nonsynonymous SNV	CXCL16:NM_001100812:exon1:c.G65C:p.R22P,CXCL16:NM_022059:exon1:c.G65C:p.R22P	.	402	1067	50	3	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0075	0.0071885	0.0108	0.0091	0.0043	0	0.0038	0.0122	0.0081	0.0190	0.0086868	1343	154602	rs151229852	0.0084	0.0084	0.0081	0.0087	0.0234	0.0083	0.0082	0.0202	0.0189	0.0081	0.0033	0.0143	0	0.0024	0.0234	0.0082	0.0090	0.0186	0.0076	0.0076	0.0080	0.0071	0.0155	0.0072	0.0070	0.0127	0.0117	0.0077	0	0.0049	0.0110	0.0004	0.0032	0.0068	0.0086	0.0090	0.0155	0.029	0.45756	D	0.08	0.41913	T	.	.	.	.	.	.	0.001331	0.00770	N	4.572020	1	0.08975	N	.	.	.	1.28	0.35960	T	-1.45	0.35597	N	0.039	0.01274	-1.0551	0.13013	T	0.035	0.15074	T	10	0.0037389696	0.00069	T	.	.	.	0.039	0.10176	.	.	0.0986583533028	0.09354	0.16216044450475545	0.16136	0.250793124165	0.27656	0.316248208284	0.12852	T	.	.	.	-0.595028	0.00156	T	-0.613213	0.11725	T	0.0047942137709534	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.;.	.;.	-0.849950	0.01012	0.042	0.70513484036691765	0.09320	0.02421	0.06840	N	AEFDGBHCI	0.172192	0.29921	N	-1.71474974148589	0.00791	0.03416454	-1.82558825961908	0.00680	0.03028378	0.999999988637891	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	3.32	-5.98	0.02034	-3.068000	0.00682	-6.206000	0.01465	-3.178000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1343:0.3843:0.1202:0.3613	1.972	0.03200	494	0.76445	.;.	.	.	.	.	rs151229852	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020222	0.000000	0.020380	0.029240	0.050000	0.034483	0.027778	0.007576	0.05263	1092.83	39	chr17	4739332	.	C	G	1092.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.878;DP=719;ExcessHet=0.119;FS=1.509;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.36;SOR=0.915	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	17	0	2	0
chr17	4809713	4809713	T	C	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon8:c.T637C:p.S213P,PLD2:NM_002663:exon8:c.T637C:p.S213P	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0161689175535	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749614832	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.211	0.27235	T	0.853	0.47048	P	0.505	0.47795	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	3.09	0.08371	T	-3.28	0.65627	D	0.903	0.90818	-1.1711	0.00518	T	0.064	0.26632	T	10	0.8096962	0.80268	D	0.016169	0.37293	T	0.346	0.66769	0.534	0.64293	0.546131560702	0.54268	0.7549740081364229	0.75444	0.694474038054	0.60769	0.621962785721	0.56006	T	0.287494	0.66029	T	0.192661	0.73210	D	0.0389673	0.72860	D	0.921865135752122	0.58172	D	0.911109	0.68490	D	0.570529	0.71090	0.5810265	0.75714	0.570529	0.71091	0.5810265	0.75715	-7.118	0.54890	T	.	.	0.816	0.82667	P	.;.	.;.	4.621388	0.73381	26.0	0.99830051529963915	0.91198	0.97750	0.76862	D	AEFBI	0.935671	0.93088	D	0.664717977190895	0.77325	6.652977	0.672199563928878	0.80275	7.262494	0.999996612288541	0.74766	0.706548	0.73137	0	0.53679	0.11191	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	5.705000	0.68009	6.232000	0.55228	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.783	0.62579	422	0.81333	Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1434.33	39	chr17	4809713	.	T	C	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=828;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.126;SOR=0.622	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A,PLD2:NM_002663:exon17:c.A1705G:p.T569A	.	419	1085	18	0	0	18	0.00822669	.	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.002717	0.023392	0.050000	0.025862	0.012195	0.000000	0.02632	1883.33	35	chr17	4817149	.	A	G	1883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=858;ExcessHet=0;FS=0.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-2.108;SOR=0.635	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1337	18	0	1	0
chr17	4896477	4896477	G	A	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_015716:exon29:c.G3553A:p.D1185N,MINK1:NM_001024937:exon30:c.G3604A:p.D1202N,MINK1:NM_001321236:exon30:c.G3388A:p.D1130N,MINK1:NM_153827:exon30:c.G3664A:p.D1222N,MINK1:NM_170663:exon30:c.G3577A:p.D1193N	.	.	.	.	.	.	.	.	.	.	.	2757346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0297635645372	.	0.000199681	5.796e-05	0.0002	8.639e-05	0	0	2.997e-05	0	0.0001	6.47e-05	10	154602	rs369985962	3.694e-05	3.694e-05	3.812e-05	3.576e-05	0.0002	2.894e-05	2.592e-05	3.257e-05	2.919e-05	2.987e-05	2.237e-05	0	5.038e-05	0	0.0002	4.227e-05	1.656e-05	1.159e-05	5.256e-05	5.25e-05	5.14e-05	5.376e-05	0.0002	2.557e-05	1.83e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0.0002	0	0	0	0	0	0.176	0.22312	T	0.665	0.12281	T	0.966	0.56202	D	0.575	0.50032	P	0.000005	0.62929	D	0.060079	1	0.81001	D	0.88	0.21560	L	-0.91	0.75108	T	-4.29	0.76414	D	0.543	0.57006	-0.6601	0.62271	T	0.276	0.64824	T	10	0.29714325	0.47276	T	0.029764	0.52214	D	0.366	0.68582	.	.	0.626997901271	0.62395	0.4529254262954543	0.45210	1.37614566276	0.84668	0.659943342209	0.61401	T	0.220943	0.58437	T	-0.298298	0.08821	T	-0.386826	0.34924	T	0.365359604358673	0.27617	T	0.962554	0.86020	D	0.35113075	0.57155	0.2634706	0.52154	0.35113075	0.57155	0.2634706	0.52153	-5.823	0.44774	T	.	.	0.177	0.38711	B	.;.;.;.	.;.;.;.	5.388686	0.90281	31	0.99714011111210954	0.81563	0.96380	0.68855	D	AEFGBCI	0.928528	0.91287	D	0.185900196828528	0.50521	3.241401	0.263156043411197	0.53402	3.509294	0.999999999884341	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	6.902000	0.75519	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.916	0.70440	273	0.89298	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;.;.;Citron homology (CNH) domain|Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1810.33	34	chr17	4896477	.	G	A	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.59;DP=793;ExcessHet=0;FS=3.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.303;SOR=1.023	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	18	0	1	0
chr17	4933268	4933268	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C664T:p.P222S	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0485009578493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.235	0.24767	T	.	.	.	.	.	.	0.230192	0.03513	N	1.742300	0.999993	0.08975	N	2.31	0.66127	M	0.42	0.56937	T	-5.64	0.86914	D	0.105	0.13626	-0.9129	0.46492	T	0.165	0.50225	T	10	0.45653173	0.59024	T	0.048501	0.63403	D	0.113	0.31778	0.589	0.71749	0.62732496935	0.62428	0.6257124961093384	0.62504	0.50679954255	0.48873	0.28017616272	0.07516	T	0.805049	0.95068	D	-0.206296	0.19903	T	-0.534106	0.18878	T	0.937188446521759	0.60677	D	0.654634	0.26653	T	0.15179123	0.34488	0.24291757	0.49723	0.15179123	0.34488	0.24291757	0.49722	-5.985	0.46154	T	0.1804534931723624	0.23224	0.297	0.52712	B	.;.	.;.	0.301666	0.06771	3.290	0.99399348407414279	0.62748	0.14329	0.18345	N	AEFDGBCI	0.055024	0.10055	N	-0.511488908570988	0.21708	1.154024	-0.720797590932562	0.16444	0.8698834	0.15762694587224	0.17542	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.81	-2.61	0.05811	0.413000	0.20869	-0.955000	0.06800	0.549000	0.26987	0.292000	0.25252	0.000000	0.08366	0.515000	0.29359	0.3927:0.3681:0.0:0.2392	4.135	0.09634	390	0.83257	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2589.33	33	chr17	4933268	.	C	T	2589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=1179;ExcessHet=0;FS=3.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.502;SOR=0.501	GT:AD:DP:GQ:PL	0/1:107,99:206:99:2603,0,2895	18	0	1	0
chr17	4933836	4933836	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C1232T:p.P411L	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	65	1432	9	3	13	28	0.00521014	.	.	.	256258	not_provided|Bernard_Soulier_syndrome|GP1BA-related_disorder	MedGen:C3661900|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.223	0.409234085502	0.0003	0.00179712	0.0011	0	0.0003	0	0	0.0008	0.0013	0.0043	0.0005379	14	26028	rs139921368	0.0007	0.0007	0.0006	0.0009	0.0103	0.0007	0.0007	0.0081	0.0073	3.218e-05	0.0004	0.0062	0	9.22e-05	0.0103	0.0003	0.0012	0.0054	0.0006	0.0007	0.0007	0.0005	0.0043	0.0005	0.0004	0.0028	0.0023	0	0	0.0004	0.0088	0	0.0001	0.0038	0.0005	0.0005	0.0043	0.001	0.78490	D	0.008	0.79402	D	.	.	.	.	.	.	0.060994	0.22206	N	0.231856	0.977361	0.39360	D	1.79	0.46772	L	-0.5	0.70480	T	-2.75	0.58407	D	0.079	0.10198	-0.3202	0.74416	T	0.392	0.74561	T	10	0.007501811	0.00171	T	0.409234	0.93562	D	0.223	0.52023	.	.	0.860402054649	0.85905	0.1318105993614151	0.13106	0.110247832495	0.12439	0.180596113205	0.00099	T	0.525591	0.83488	D	-0.400171	0.02309	T	-0.349068	0.39312	T	0.0561652924732646	0.06551	T	0.882812	0.60417	D	0.07960413	0.18194	0.087891996	0.20460	0.09520517	0.22400	0.0975654	0.23228	-6.348	0.49102	T	0.3752944579353178	0.47036	0.100	0.17232	B	.;.	.;.	0.453327	0.08233	4.973	0.87633912005926262	0.17369	0.34515	0.25086	N	AEFBCI	0.085307	0.17292	N	-0.0820000087491434	0.38183	2.232379	-0.223685744150735	0.30689	1.730123	0.996179405134013	0.34572	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.75	4.75	0.59954	0.328000	0.19425	-0.427000	0.09246	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	13.233	0.59383	393	0.83123	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.006793	0.023392	0.000000	0.017241	0.000000	0.003788	0.02778	2341.82	33	chr17	4933836	.	C	T	2341.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.075;DP=1454;ExcessHet=0.1259;FS=1.102;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=59.56;MQRankSum=1.38;QD=11.1;ReadPosRankSum=-1.08;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:136,0:136:99:.:.:0,120,1800:.	17	0	1	1
chr17	4933836	4933836	C	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	65	1432	9	3	13	28	0.00521014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2341.82	33	chr17	4933836	.	C	*	2341.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.075;DP=1454;ExcessHet=0.1259;FS=1.102;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=59.56;MQRankSum=1.38;QD=11.1;ReadPosRankSum=-1.08;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:136,0:136:99:.:.:0,120,1800:.	17	0	1	1
chr17	4933876	4933915	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	474	840	42	158	8	366	0.175662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	54753.0	202	chr17	4933876	.	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	*	54753.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.45;DP=3217;ExcessHet=0.0499;FS=0;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.031;MQ=59.56;MQRankSum=-0.345;QD=28.99;ReadPosRankSum=0.274;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:129:99:.:.:4747,4747,4747:.	15	0	1	3
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4747,416,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,129:129:99:.:.:4747,416,0:.	1	11	5	2
chr17	4972853	4972853	G	A	exonic	CAMTA2	.	nonsynonymous SNV	CAMTA2:NM_001171166:exon14:c.C2425T:p.R809C,CAMTA2:NM_001171168:exon14:c.C2416T:p.R806C,CAMTA2:NM_001171167:exon15:c.C2488T:p.R830C,CAMTA2:NM_015099:exon15:c.C2419T:p.R807C	.	430	1089	2	1	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.133203835678	0.0004	0.00139776	0.0007	0.0005	0.0017	0	0.0002	0.0006	0.0033	0.0010	0.0006662	103	154602	rs139511595	0.0005	0.0005	0.0004	0.0005	0.0087	0.0004	0.0004	0.0068	0.0061	0.0008	0.0019	0.0003	0	0.0001	0.0087	0.0003	0.0010	0.0009	0.0005	0.0005	0.0005	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	0.0004	0	0.0010	0	0.0002	0	0.0102	0.0006	0.0033	0.0006	0.003	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.83170	D	0.002367	0.36688	N	0.212273	0.985629	0.40930	D	2.34	0.67151	M	-0.68	0.72568	T	-3.66	0.70553	D	0.489	0.54757	-0.1861	0.78026	T	0.384	0.74024	T	10	0.038193792	0.02222	T	0.133204	0.81557	D	0.400	0.71401	.	.	0.836484301805	0.83492	0.51863262275989	0.51786	0.965639295105	0.73164	0.501596689224	0.39051	T	0.153402	0.86168	T	-0.154647	0.27586	T	-0.0139305	0.69427	D	0.0559550473548925	0.06516	T	0.945605	0.79675	D	0.32483205	0.55044	0.21099138	0.45510	0.32483205	0.55044	0.21099138	0.45509	-7.694	0.59567	D	.	.	0.164	0.39029	B	.;.;.;.;.	.;.;.;.;.	5.229020	0.87771	29.4	0.99925511577771187	0.99042	0.41606	0.26694	N	AEFBCI	0.381497	0.46374	N	0.300129923785507	0.56156	3.779926	0.200247357838531	0.49862	3.184393	0.999977715889064	0.50053	0.740716	0.97744	0	0.702456	0.74545	0	0.0	0.00061	3	0.711	0.71501	0	.	.	4.97	3.99	0.45527	1.381000	0.33969	10.033000	0.83171	0.672000	0.70159	0.003000	0.16062	1.000000	0.68203	0.996000	0.76049	0.0:0.3449:0.6551:0.0	11.713	0.50898	550	0.72197	.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.012228	0.014620	0.000000	0.008621	0.003049	0.000000	0.02632	1511.33	37	chr17	4972853	.	G	A	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.95;DP=801;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.16;SOR=0.959	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	4986267	4986267	G	A	exonic	CAMTA2	.	nonsynonymous SNV	CAMTA2:NM_001171167:exon2:c.C25T:p.R9W,CAMTA2:NM_001171168:exon2:c.C25T:p.R9W	.	415	1106	1	0	0	1	0.000451875	.	.	.	3298763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0945394950166	0.0003	.	0.0004	0.0003	0.0005	0.0002	0	0.0004	0.0030	0.0008	0.0002975	46	154602	rs201093195	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0007	6.719e-05	0.0003	0	2.561e-05	0	0.0006	0.0004	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	4.83e-05	0	0.0003	0	0	0	0	0.0003	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	2.51	0.35219	T	-0.72	0.21860	N	0.433	0.48319	-1.0749	0.08369	T	0.046	0.19640	T	9	0.059373677	0.07126	T	0.094539	0.76270	D	0.073	0.21317	.	.	0.134007934775	0.12933	0.3555133562095922	0.35465	0.570417275968	0.53198	0.557683467865	0.46940	T	.	.	.	-0.462283	0.00951	T	-0.508301	0.21490	T	0.0996254848207634	0.12316	T	0.809719	0.46038	T	.	.	.	.	.	.	.	.	-5.085	0.37748	T	.	.	0.499	0.67467	A	.;.	.;.	3.376746	0.46690	22.3	0.99700871363315358	0.80591	0.44721	0.27380	N	AEFGBI	0.442746	0.50035	N	-0.286103021399653	0.29684	1.648356	-0.0874755302465565	0.35907	2.083024	0.999999801864402	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.375	0.06713	1	.	.	4.6	3.6	0.40374	1.960000	0.40046	3.320000	0.37537	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1062:0.0:0.8938:0.0	8.839	0.34290	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr17	4986267	.	G	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.695;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr17	5001261	5001261	C	T	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon5:c.C223T:p.R75W	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	646171	Inborn_genetic_diseases|Spastic_ataxia_2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.547	0.151006751429	.	0.000199681	1.65e-05	9.647e-05	0	0	0	0	0	6.058e-05	1.94e-05	3	154602	rs201085674	1.095e-05	1.094e-05	9.529e-06	1.238e-05	1.259e-05	6.48e-06	5.24e-06	7.31e-06	5.72e-06	0	0	3.827e-05	0	0	0	1.259e-05	0	1.159e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	4.815e-05	5.24e-06	2.45e-06	7.98e-06	2.99e-06	4.815e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.01	0.67890	D	0.998	0.73220	D	0.672	0.53180	P	.	.	.	.	0.933616	0.37060	D	2.565	0.75005	M	-2.41	0.88533	D	-5.38	0.84954	D	0.545	0.57177	0.508	0.90661	D	0.684	0.89080	D	9	0.5538803	0.64408	D	0.151007	0.83262	D	0.547	0.81193	.	.	0.947066071505	0.94651	0.4749041625513078	0.47409	0.378668096753	0.39273	0.423223912716	0.28280	T	0.830417	0.95945	D	-0.010146	0.50246	T	-0.0708226	0.65567	T	0.935056209564209	0.60298	D	0.984801	0.94749	D	0.35525903	0.57473	0.510128	0.71691	0.35525903	0.57473	0.510128	0.71691	-11.17	0.80582	D	0.4532066397830837	0.53666	0.122	0.40586	B	.;.	.;.	4.123492	0.61646	24.4	0.99857373873109456	0.93639	0.55444	0.29865	D	AEFDBI	0.776298	0.70945	D	0.216114074177291	0.51981	3.375229	0.1389953969652	0.46563	2.900176	0.999544427566184	0.40300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.83	3.85	0.43556	0.944000	0.28641	4.827000	0.45167	0.599000	0.40250	0.011000	0.18532	0.999000	0.35428	0.993000	0.69303	0.3536:0.6464:0.0:0.0	10.462	0.43772	569	0.70546	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1220.33	34	chr17	5001261	.	C	T	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=776;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-1.197;SOR=0.581	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr17	5003999	5003999	A	C	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon11:c.A866C:p.Q289P	Spastic ataxia 2, autosomal recessive, Autosomal recessive	419	1095	8	0	0	8	0.00363967	0.8663	0.626	.	413453	not_provided|Spastic_ataxia_2|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.742	0.252099349353	0.0017	0.000599042	0.0012	9.612e-05	0.0003	0	0.0014	0.0019	0.0011	0.0008	0.0010931	169	154602	rs146872023	0.0014	0.0014	0.0014	0.0015	0.0038	0.0014	0.0014	0.0026	0.0022	8.963e-05	0.0003	0.0004	0	0.0006	0.0038	0.0017	0.0012	0.0008	0.0010	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	0.0005	0	0	0.0006	0	0.0020	0.0009	0.0004	0.008	0.58626	D	0.027	0.55341	D	0.968	0.56581	D	0.954	0.69447	D	.	.	.	.	0.999976	0.53665	D	1.935	0.51832	L	-2.4	0.88455	D	-1.96	0.45404	N	0.309	0.34874	0.594	0.91816	D	0.736	0.90966	D	9	0.05489394	0.05915	T	0.252099	0.89158	D	0.742	0.91069	.	.	0.906485554669	0.90554	0.6530642631107064	0.65242	1.02858067895	0.75351	0.691312730312	0.65895	T	0.352681	0.72009	T	-0.120594	0.33026	T	0.0493828	0.73543	D	0.0683233118103087	0.08414	T	0.941606	0.78180	D	0.47949785	0.65870	0.5041443	0.71338	0.47949785	0.65870	0.5041443	0.71338	-3.778	0.20476	T	.	.	0.069	0.02960	B	.	.	4.560608	0.71867	25.7	0.99251680997989944	0.56891	0.99788	0.99470	D	AEFBI	0.958106	0.97769	D	0.673353446299839	0.77888	6.762032	0.692715948714318	0.81826	7.618182	0.999837813979633	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.026000	0.56942	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	14.148	0.64899	576	0.70006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1267.33	42	chr17	5003999	.	A	C	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.514;DP=770;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.889;SOR=0.612	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1281,0,1418	18	0	1	0
chr17	5108940	5108940	G	A	exonic	ZNF232	.	nonsynonymous SNV	ZNF232:NM_001320952:exon3:c.C611T:p.P204L,ZNF232:NM_001320955:exon3:c.C527T:p.P176L,ZNF232:NM_014519:exon4:c.C611T:p.P204L,ZNF232:NM_001320953:exon5:c.C530T:p.P177L,ZNF232:NM_001320954:exon5:c.C530T:p.P177L	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0604894586746	.	0.000998403	0.0006	0	8.637e-05	0	0	0.0002	0	0.0031	0.0004981	77	154602	rs149710317	0.0004	0.0004	0.0003	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0	4.472e-05	0.0001	0	0	0.0062	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0	0.0048	0.765	0.03431	T	0.366	0.16668	T	.	.	.	.	.	.	0.104292	0.19710	N	0.271355	0.999054	0.45965	D	.	.	.	3.16	0.07711	T	0.62	0.02442	N	0.217	0.24260	-0.9856	0.33687	T	0.011	0.04042	T	10	0.0038862824	0.00074	T	0.060489	0.68019	D	0.094	0.27141	.	.	0.0297737177859	0.01360	0.2777137317567188	0.27684	0.2197955663	0.24518	0.326052337885	0.14337	T	0.003194	0.02596	T	-0.644636	0.00078	T	-0.702429	0.05694	T	0.0388728978443438	0.03488	T	0.468553	0.13811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30582	B	.;.	.;.	1.653020	0.21087	15.04	0.97580722171742107	0.34736	0.73162	0.35791	D	AEFDBI	0.049833	0.08648	N	-0.661643647908694	0.17122	0.8783616	-0.543791477222628	0.20970	1.132274	0.14231288637056	0.17296	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.84	2.86	0.32427	1.611000	0.36490	1.033000	0.23495	0.662000	0.56354	0.343000	0.25700	0.015000	0.20450	1.000000	0.97212	0.1127:0.0:0.6835:0.2038	5.179	0.14477	599	0.68140	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.011696	0.000000	0.017241	0.000000	0.003788	0.02632	1013.33	33	chr17	5108940	.	G	A	1013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=694;ExcessHet=0;FS=2.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.66;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr17	5139447	5139447	C	T	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon14:c.C1271T:p.T424M,USP6:NM_001304284:exon22:c.C1271T:p.T424M	.	410	1111	1	0	0	1	0.000449843	.	.	.	704232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0082	0.00798722	0.0026	0.0281	0.0014	0	0	6.007e-05	0.0011	0	0.0023674	366	154602	rs114887037	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0019	0	0	0	0.0006	2.968e-05	0.0015	2.32e-05	0.0074	0.0074	0.0075	0.0072	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0041	0	0	0	0	8.82e-05	0.0076	0	0.001	0.78490	D	0.015	0.61642	D	0.989	0.62824	D	0.791	0.57754	P	0.000104	0.50451	D	0.228779	1	0.08975	N	1.79	0.46772	L	2.79	0.11189	T	-1.61	0.38734	N	0.055	0.06990	-1.0890	0.05701	T	0.025	0.10688	T	9	0.004240364	0.00085	T	.	.	.	0.051	0.14325	.	.	0.40146981186	0.39757	0.2340934981079838	0.23324	0.715825330487	0.61972	0.514721155167	0.40884	T	0.006224	0.05657	T	-0.645483	0.00077	T	-0.680371	0.06961	T	0.0594843793563042	0.07087	T	0.813219	0.46599	T	0.09142489	0.21423	0.18040559	0.40838	0.09142489	0.21423	0.18040559	0.40837	-4.796	0.34545	T	.	.	0.203	0.42749	B	.;.	.;.	1.773179	0.22548	15.66	0.99448779762898043	0.65172	0.00480	0.02286	N	AEFDBCI	0.033600	0.04018	N	-0.674210410308952	0.16759	0.8566614	-0.942094068535189	0.11107	0.5638333	1.16954571823002E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	0.046	0.046	0.13572	-0.470000	0.06717	-5.749000	0.01609	-0.885000	0.02425	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	632	0.64850	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1477.33	134	chr17	5139447	.	C	T	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=1323;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.15;SOR=0.739	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1254	18	0	1	0
chr17	5141484	5141487	ATAG	-	exonic	USP6	.	frameshift deletion	USP6:NM_004505:exon15:c.1558_1561del:p.R522Kfs*12,USP6:NM_001304284:exon23:c.1558_1561del:p.R522Kfs*12	.	473	1048	1	0	0	1	0.000476872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081	0.00758786	0.0024	0.0263	0.0011	0	0	6.013e-05	0.0011	0	0.002128	329	154602	rs368680364	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0016	0	0	0	0.0005	3.067e-05	0.0013	1.199e-05	0.0068	0.0069	0.0070	0.0066	0.0230	0.0065	0.0063	0.0218	0.0213	0.0230	0	0.0041	0	0	0	0	8.821e-05	0.0076	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001056	0.000000	0.001362	0.003401	0.000000	0.000000	0.000000	0.000000	0.02632	1174.29	49	chr17	5141483	.	AATAG	A	1174.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.151;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1129	18	0	1	0
chr17	5182095	5182095	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C2162T:p.T721M	.	414	1096	11	1	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0002	0.00239617	0.0018	0.0001	0.0009	0.0001	0	0.0004	0.0011	0.0104	0.0015071	233	154602	rs140516109	0.0009	0.0009	0.0005	0.0013	0.0110	0.0009	0.0008	0.0105	0.0102	2.991e-05	0.0005	0.0016	5.038e-05	0	0.0040	0.0002	0.0009	0.0110	0.0006	0.0006	0.0005	0.0006	0.0094	0.0005	0.0004	0.0072	0.0064	0.0001	0	0.0006	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0094	0.006	0.61437	D	0.004	0.74150	D	0.975	0.58077	D	0.171	0.35348	B	.	.	.	.	1	0.08975	N	1.75	0.45442	L	1.59	0.28836	T	-1.74	0.41239	N	0.105	0.12627	-1.0403	0.17223	T	0.031	0.13330	T	9	0.0059402585	0.00133	T	.	.	.	0.078	0.22779	.	.	0.187945064343	0.18414	0.009114386701609472	0.00874	0.0130179826969	0.01253	0.347031772137	0.17484	T	0.007771	0.07155	T	-0.626096	0.00101	T	-0.661732	0.08150	T	0.013212258107813	0.00235	T	0.146985	0.01214	T	0.03933552	0.05411	0.057091933	0.10317	0.03933552	0.05410	0.057091933	0.10317	-8.33	0.63297	D	.	.	0.228	0.46025	B	.;.	.;.	2.146215	0.27331	17.43	0.93180590171332578	0.22841	0.00001	0.00044	N	AEFDBHCI	0.040840	0.06131	N	-0.616955707718579	0.18434	0.9570632	-0.834422505081816	0.13662	0.7099648	0.00338620195088715	0.10088	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.17	1.17	0.19998	-0.616000	0.05686	-1.050000	0.06486	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.661	0.16942	528	0.73785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1532.33	58	chr17	5182095	.	G	A	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1418;ExcessHet=0;FS=2.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.024;SOR=0.919	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr17	5182407	5182407	A	G	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.T1850C:p.I617T	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0077	0.0091853	0.0026	0.0295	0.0014	0	0	2.997e-05	0.0011	0	0.0023932	370	154602	rs146017195	0.0007	0.0007	0.0008	0.0006	0.0244	0.0007	0.0007	0.0230	0.0224	0.0244	0.0019	0	0	0	0.0005	2.698e-05	0.0016	1.159e-05	0.0075	0.0076	0.0075	0.0074	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0041	0	0	0	0	8.825e-05	0.0076	0	0.064	0.36509	T	0.098	0.39040	T	0.818	0.45651	P	0.456	0.46291	P	.	.	.	.	1	0.08975	N	-0.285	0.03692	N	3.04	0.08810	T	-3.4	0.67014	D	0.066	0.04307	-0.9745	0.36235	T	0.007	0.02558	T	9	0.005640924	0.00125	T	.	.	.	0.047	0.12962	.	.	0.141422826196	0.13715	0.00467234674098692	0.00440	0.0126889451483	0.01211	0.598153829575	0.52643	T	0.030954	0.21818	T	-0.672838	0.00053	T	-0.718989	0.04845	T	0.0516141677637808	0.05781	T	0.629737	0.24459	T	0.13529508	0.31405	0.15038654	0.35469	0.13529508	0.31405	0.15038654	0.35468	-8.135	0.61986	D	.	.	0.757	0.75360	P	.;.	.;.	1.400572	0.18148	13.57	0.97137707702741383	0.32529	0.00001	0.00044	N	AEFBHCI	0.029139	0.02695	N	-0.851071482014594	0.12023	0.5835985	-1.03405570116636	0.09042	0.4477047	2.59118268772392E-4	0.06190	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	1.26	-0.0607	0.13119	-0.009000	0.12703	-1.586000	0.05115	0.668000	0.69082	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.5404:0.0:0.4596:0.0	4.273	0.10245	528	0.73785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002114	0.000000	0.004076	0.004098	0.000000	0.000000	0.000000	0.003788	0.02632	2570.33	58	chr17	5182407	.	A	G	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.288;DP=1517;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.71;QD=13.53;ReadPosRankSum=-1.443;SOR=0.791	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr17	5408818	5408818	C	T	exonic	NUP88	.	nonsynonymous SNV	NUP88:NM_001320653:exon5:c.G772A:p.G258S,NUP88:NM_002532:exon5:c.G772A:p.G258S	.	437	1080	4	1	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00613577545735	.	.	4.12e-05	0	0	0	0	7.496e-05	0	0	4.53e-05	7	154602	rs765446884	7.936e-05	7.935e-05	6.671e-05	9.214e-05	0.0023	6.734e-05	6.268e-05	0.0013	0.0011	2.989e-05	2.238e-05	0	0	0	0.0023	7.914e-05	0.0002	0	5.255e-05	5.253e-05	7.705e-05	2.689e-05	7.347e-05	2.556e-05	1.83e-05	2.846e-05	1.858e-05	2.412e-05	0	6.545e-05	0	0	0	0	7.347e-05	0.0005	0	.	.	.	0.54	0.09760	T	0.007	0.14184	B	0.024	0.20255	B	0.382517	0.13370	N	0.749772	0.938689	0.26857	N	0.895	0.22405	L	1.06	0.39781	T	.	.	.	0.142	0.14196	-1.0269	0.21462	T	0.046	0.19839	T	9	0.06465414	0.08607	T	0.006136	0.16052	T	.	.	.	.	0.307332253619	0.30352	0.33542874311795995	0.33455	0.0967634086437	0.10922	0.361731052399	0.19638	T	0.022538	0.17359	T	-0.268347	0.11941	T	-0.425595	0.30436	T	0.0537853122997006	0.06152	T	0.689931	0.29934	T	0.030968336	0.02854	0.054092743	0.09236	0.030968336	0.02853	0.054092743	0.09236	-1.79	0.02479	T	0.08042641652098655	0.04056	0.080	0.08802	B	.;.	.;.	2.845767	0.37553	20.5	0.69936045028814087	0.09132	0.62496	0.31799	D	AEFBI	0.089708	0.18183	N	-0.642366874644145	0.17683	0.9120006	-0.473161574046055	0.22896	1.245912	0.918791806171968	0.26583	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	2.82	0.32061	0.901000	0.28075	0.082000	0.14403	0.549000	0.26987	0.416000	0.26298	0.015000	0.20450	0.991000	0.66497	0.0:0.7506:0.0:0.2494	8.298	0.31158	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	818.33	35	chr17	5408818	.	C	T	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=714;ExcessHet=0;FS=1.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.06;SOR=0.929	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1282	18	0	1	0
chr17	6080681	6080681	T	C	exonic	WSCD1	.	nonsynonymous SNV	WSCD1:NM_015253:exon2:c.T23C:p.L8P	.	414	1095	12	1	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.366438096606	0.0005	0.00199681	0.0015	0	0.0003	0	0.0008	0.0009	0.0080	0.0062	0.0013583	210	154602	rs199969111	0.0009	0.0009	0.0007	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	0.0001	0.0005	0.0005	0	0.0006	0.0061	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0070	0.0006	0.0006	0.0052	0.0045	9.619e-05	0	0.0007	0.0003	0	0.0003	0.0068	0.0007	0.0024	0.0070	0.063	0.36709	T	0.094	0.43344	T	0.999	0.77913	D	0.997	0.86255	D	0.000303	0.45977	D	0.088957	1	0.81001	D	1.825	0.47900	L	-1.69	0.82985	D	-2.76	0.58569	D	0.892	0.89131	0.216	0.86182	D	0.599	0.85705	D	10	0.011995554	0.00260	T	0.366438	0.92640	D	0.778	0.92583	.	.	0.814702939726	0.81296	0.8239234156417965	0.82349	0.514778440563	0.49403	0.829608440399	0.86502	D	0.119549	0.47045	T	0.0413676	0.57224	T	0.289674	0.87653	D	0.0839563011118792	0.10485	T	0.673733	0.28234	T	0.72579545	0.79486	0.6816505	0.81291	0.72579545	0.79487	0.6816505	0.81292	-7.07	0.54544	T	.	.	0.105	0.42346	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.784140	0.54430	23.5	0.99578205427655575	0.72861	0.95486	0.64913	D	AEFDBI	0.843437	0.76047	D	0.545063664310904	0.69781	5.406135	0.545255372443967	0.71067	5.598863	0.999999596397004	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	5.076000	0.64242	3.459000	0.38500	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.798	0.56952	934	0.15400	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	1944.33	34	chr17	6080681	.	T	C	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.406;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.13;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	18	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.02632	1587.33	34	chr17	6425710	.	C	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.265;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.225;SOR=0.661	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1219	18	0	1	0
chr17	6445169	6445169	A	C	exonic	PIMREG	.	nonsynonymous SNV	PIMREG:NM_001195228:exon2:c.A59C:p.Q20P,PIMREG:NM_019013:exon2:c.A59C:p.Q20P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0133777501934	.	.	8.656e-06	0	9.093e-05	0	0	0	0	0	6.5e-06	1	154602	rs770930490	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0002	1e-06	7.3e-07	.	.	0	2.238e-05	0	0	0	0.0002	8.994e-07	1.657e-05	1.16e-05	6.576e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.111	0.29029	T	0.013	0.63109	D	0.578	0.43566	P	0.264	0.47030	B	0.716833	0.09968	N	0.837048	0.986134	0.24645	N	.	.	.	0.82	0.48142	T	-2.86	0.60188	D	0.477	0.51226	-0.9630	0.38606	T	0.163	0.49864	T	10	0.34283477	0.51307	T	0.013378	0.32738	T	0.132	0.35948	0.494	0.58206	0.486567385682	0.48289	0.20474860797563782	0.20391	0.550379459692	0.51906	0.241067737341	0.02887	T	0.154536	0.49586	T	-0.156445	0.27309	T	-0.379633	0.35766	T	0.45820760347056	0.31100	T	0.646635	0.25786	T	0.28589496	0.51608	0.33715788	0.59509	0.28589496	0.51608	0.33715788	0.59508	-3.625	0.18408	T	.	.	0.110	0.29116	B	.;.;.;.;.;.	.;.;.;.;.;.	1.782984	0.22667	15.71	0.98485725752313613	0.42037	0.59158	0.30838	D	AEFBCI	0.268676	0.38512	N	-0.0685295713810273	0.38780	2.276518	-0.107928400123728	0.35070	2.024597	0.999955195743579	0.48110	0.660085	0.49399	0	0.662677	0.63036	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.66	3.58	0.40133	1.465000	0.34909	0.428000	0.18294	0.751000	0.87719	0.679000	0.28429	0.185000	0.23452	0.320000	0.24970	0.8952:0.0:0.1048:0.0	6.794	0.22899	883	0.28872	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	423.33	34	chr17	6445169	.	A	C	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.88;DP=728;ExcessHet=0;FS=4.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.241;SOR=1.312	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1045	18	0	1	0
chr17	6600447	6600447	G	C	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon13:c.C1124G:p.T375S,KIAA0753:NM_014804:exon13:c.C2021G:p.T674S	.	434	1082	2	0	4	6	0.000923361	.	.	.	4151833	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0265235485688	8.4e-05	.	5.805e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs368931554	3.013e-05	3.01e-05	2.862e-05	3.166e-05	0.0002	2.284e-05	2.034e-05	2.458e-05	2.146e-05	0	2.237e-05	0	0	0	0.0002	3.331e-05	8.287e-05	0	1.97e-05	1.969e-05	2.57e-05	1.343e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.101	0.30375	T	0.362	0.16865	T	0.055	0.22733	B	0.034	0.22546	B	0.006420	0.32054	N	0.348813	0.632299	0.30688	N	.	.	.	-1.96	0.85091	D	-0.71	0.20145	N	0.056	0.05162	-0.2011	0.77643	T	0.486	0.80410	T	10	0.11005294	0.20556	T	0.026524	0.49429	D	0.219	0.51417	0.514	0.61307	0.530060385853	0.52655	0.06692350931237287	0.06630	0.0702805270165	0.07872	0.341918975115	0.16726	T	0.009933	0.09012	T	-0.252182	0.13832	T	-0.402375	0.33108	T	0.0499610404083935	0.05494	T	0.477752	0.15541	T	0.067622714	0.14661	0.0837759	0.19224	0.067622714	0.14661	0.0837759	0.19224	-2.405	0.05164	T	.	.	0.101	0.18247	B	.;.	.;.	2.092827	0.26622	17.18	0.97486666773881703	0.34219	0.80395	0.40044	D	AEFBI	0.113650	0.22415	N	-0.183316206305598	0.33830	1.923761	-0.074987349629514	0.36427	2.119811	0.994925861066105	0.33865	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	2.11	0.26299	1.949000	0.39938	4.232000	0.42657	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.995000	0.73285	0.0:0.483:0.517:0.0	12.963	0.57868	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	740.33	34	chr17	6600447	.	G	C	740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=684;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.625;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	18	0	1	0
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	429.79	198	chr17	6707135	.	T	C	429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.724;DP=1321;ExcessHet=0.3672;FS=110.264;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=9.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1341:.	16	0	3	0
chr17	6756096	6756096	G	-	exonic	XAF1	.	frameshift deletion	XAF1:NM_017523:exon1:c.18delG:p.V7Cfs*9,XAF1:NM_199139:exon1:c.18delG:p.V7Cfs*9,XAF1:NM_001353135:exon2:c.18delG:p.V7Cfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs759381230	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0012	8.31e-06	6.7e-06	0.0006	0.0004	0	0	0	0	0	0.0012	6.295e-06	1.656e-05	4.638e-05	1.314e-05	1.312e-05	1.286e-05	1.344e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1542.29	38	chr17	6756095	.	CG	C	1542.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=0.163;SOR=0.691	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1375	18	0	1	0
chr17	6760425	6760425	G	A	exonic	XAF1	.	nonsynonymous SNV	XAF1:NM_001353140:exon3:c.G121A:p.A41T,XAF1:NM_199139:exon3:c.G188A:p.R63H,XAF1:NM_001353136:exon4:c.G65A:p.R22H,XAF1:NM_001353139:exon4:c.G178A:p.A60T,XAF1:NM_017523:exon4:c.G245A:p.R82H,XAF1:NM_001353135:exon5:c.G245A:p.R82H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00712880889771	.	0.000199681	4.05e-05	0.0001	0	0	0	1.826e-05	0	0.0001	3.88e-05	6	154602	rs554272652	5.692e-05	5.746e-05	7.232e-05	4.135e-05	0.0002	4.688e-05	4.312e-05	8.891e-05	6.449e-05	0.0001	0.0002	3.838e-05	5.062e-05	0	0	4.324e-05	0.0002	9.305e-05	8.586e-05	8.556e-05	9.038e-05	8.113e-05	0.0002	4.982e-05	3.982e-05	5.303e-05	2.84e-05	9.694e-05	0	0.0002	0	0	0	0	5.893e-05	0.0005	0.0002	0.131	0.27783	T	0.073	0.43159	T	0.559	0.43974	P	0.061	0.38015	B	0.043344	0.23748	N	0.372116	1	0.08975	N	1.56	0.39490	L	1.3	0.35590	T	-2.83	0.62343	D	0.316	0.35620	-0.9625	0.38704	T	0.122	0.42357	T	10	0.058918923	0.07002	T	0.007129	0.18896	T	0.092	0.26621	.	.	0.0806252709748	0.07271	0.32878628464458326	0.32791	0.197134084636	0.22086	0.206038817763	0.00654	T	0.460058	0.79739	T	-0.360425	0.04106	T	-0.5298	0.19307	T	0.112079823098522	0.13638	T	0.714629	0.32694	T	0.039620727	0.05505	0.041832842	0.04843	0.039620727	0.05504	0.041832842	0.04843	-4.517	0.77862	T	.	.	0.114	0.22500	B	.;.;.	.;.;.	0.627062	0.09953	6.711	0.97970829652930402	0.37253	0.12977	0.17592	N	AEFBCI	0.059177	0.11156	N	-0.659203805828225	0.17193	0.8825999	-0.845339503870856	0.13399	0.6949086	0.999155227146429	0.38592	0.67177	0.52595	0	0.702456	0.74545	0	0.615948	0.41167	0	0.635551	0.53088	0	.	.	4.23	-1.58	0.08029	0.400000	0.20657	-0.903000	0.06984	-0.733000	0.03713	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5824:0.0:0.4176:0.0	7.877	0.28764	878	0.29785	Zinc finger, TRAF-type;.;Zinc finger, TRAF-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	902.33	34	chr17	6760425	.	G	A	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=942;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-2.095;SOR=0.898	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,100,1497	18	0	1	0
chr17	6760580	6760580	G	T	exonic	XAF1	.	stopgain	XAF1:NM_199139:exon3:c.G343T:p.E115X,XAF1:NM_001353136:exon4:c.G220T:p.E74X,XAF1:NM_017523:exon4:c.G400T:p.E134X,XAF1:NM_001353135:exon5:c.G400T:p.E134X	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00139776	0.0037	0.0012	0.0021	0	0.0017	0.0056	0.0080	0.0012	0.0038098	589	154602	rs146752602	0.0055	0.0055	0.0056	0.0053	0.0066	0.0054	0.0053	0.0065	0.0065	0.0010	0.0021	7.661e-05	0	0.0022	0.0023	0.0066	0.0050	0.0010	0.0037	0.0037	0.0041	0.0032	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0.0669	0.0016	0	0	0.0027	0	0.0059	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.012108	0.01326	N	2.424610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.507	0.65673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239564	0.15404	T	-0.112047	0.62448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.839084	0.78981	27.0	0.75401304140767478	0.11061	0.08653	0.14552	N	AEFBCI	0.020562	0.00824	N	-0.464678502998854	0.23244	1.246906	-0.917117463289183	0.11690	0.597124	0.999902288651337	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	3.77	-5.71	0.02218	-1.649000	0.02095	-2.174000	0.04104	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5139:0.2645:0.2216:0.0	5.642	0.16846	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002525	0.000000	0.001362	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	707.33	34	chr17	6760580	.	G	T	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=771;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.034;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	11	0	5	3
chr17	7038641	7038641	G	T	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.G833T:p.G278V	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00825575818824	0.0002	0.00179712	0.0011	0.0002	0.0002	0	0	0.0003	0	0.0065	0.0009638	149	154602	rs184174774	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0.0002	0	1.872e-05	0.0035	8.993e-05	0.0005	0.0062	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0	0.0003	0	0	0	0.0001	0	0.0041	0.671	0.04548	T	0.501	0.11153	T	0.025	0.19245	B	0.012	0.16012	B	0.042677	0.23818	N	0.475889	0.99998	0.54805	D	1.08	0.27187	L	-0.06	0.63568	T	0.33	0.03889	N	0.328	0.36884	-1.0683	0.09791	T	0.017	0.07092	T	10	0.0048539937	0.00103	T	0.008256	0.21878	T	0.162	0.41843	.	.	0.413241256734	0.40943	0.5010361464040538	0.50025	0.368163603029	0.38376	0.401091575623	0.25220	T	0.007882	0.07256	T	-0.335478	0.05708	T	-0.252055	0.49613	T	0.0296607524246181	0.01938	T	0.688231	0.29741	T	0.19471332	0.41231	0.18879253	0.42190	0.19471332	0.41231	0.18879253	0.42189	-0.662	0.00693	T	.	.	0.115	0.23005	B	.	.	2.742183	0.35919	20.1	0.88819230020886974	0.18281	0.25863	0.22825	N	AEFDBCI	0.537821	0.55547	D	-0.27498234780677	0.30118	1.676391	-0.0972934918708493	0.35501	2.054705	0.999999993393148	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.762000	0.47278	11.810000	0.96908	0.676000	0.76740	0.160000	0.23797	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.086	0.86487	754	0.51307	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2599.33	37	chr17	7038641	.	G	T	2599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.533;DP=912;ExcessHet=0;FS=3.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.522;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr17	7222244	7222244	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon8:c.G754A:p.A252T,ACADVL:NM_001270448:exon8:c.G592A:p.A198T,ACADVL:NM_000018:exon9:c.G820A:p.A274T,ACADVL:NM_001270447:exon10:c.G889A:p.A297T	VLCAD deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.029421313853	.	.	8.244e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs771624063	4.788e-06	4.788e-06	4.084e-06	5.5e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	2.698e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.09600	T	0.461	0.13030	T	0.001	0.07471	B	0.0	0.04355	B	0.005353	0.32875	N	0.320415	0.866116	0.31254	N	0.22	0.09567	N	-4.14	0.96772	D	-0.09	0.08340	N	0.196	0.21710	-0.1171	0.79702	T	0.674	0.88696	D	10	0.10048807	0.18304	T	0.029421	0.51930	D	0.183	0.45592	0.267	0.21418	0.788040571525	0.78607	0.33426175811547026	0.33339	0.187689691387	0.21090	0.265026569366	0.05504	T	0.44898	0.79065	T	-0.159861	0.26781	T	-0.285878	0.46198	T	0.0349433848292804	0.02798	T	0.792821	0.45852	T	0.11649607	0.27476	0.07923589	0.17819	0.11649607	0.27476	0.07923589	0.17818	-5.703	0.45682	T	.	.	0.060	0.01408	B	.;.;.	.;.;.	0.407392	0.07786	4.472	0.82954987815637737	0.14464	0.39866	0.26309	N	AEFDBHCI	0.384648	0.46569	N	-1.12850142315397	0.06141	0.2818927	-1.08960709635725	0.07903	0.386368	0.999997417691111	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	0.396	0.15532	1.046000	0.29964	0.170000	0.15507	-0.244000	0.07312	0.032000	0.20554	0.000000	0.08366	0.299000	0.24476	0.3089:0.0:0.6911:0.0	9.266	0.36804	381	0.83684	.;Acyl-CoA oxidase/dehydrogenase, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	37	chr17	7222244	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.199;DP=759;ExcessHet=0;FS=4.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.38;SOR=0.312	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q,ACADVL:NM_001270448:exon19:c.G1616A:p.R539Q,ACADVL:NM_000018:exon20:c.G1844A:p.R615Q,ACADVL:NM_001270447:exon21:c.G1913A:p.R638Q	VLCAD deficiency, Autosomal recessive	0	1484	36	2	0	40	0.0132979	.	.	YES	192609	Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided|ACADVL-related_disorder|not_specified	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793|MedGen:C3661900|.|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.000000	0.010870	0.023392	0.000000	0.043103	0.015244	0.011364	0.02632	902.33	40	chr17	7224973	.	G	A	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.854;DP=754;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.309;SOR=0.43	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1402	18	0	1	0
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del,PHF23:NM_001284518:exon4:c.750_758del:p.E255_E257del,PHF23:NM_024297:exon4:c.762_770del:p.E259_E261del	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1052.29	36	chr17	7236156	.	TTCCTCTTCC	T	1052.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=728;ExcessHet=0;FS=5.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.75;SOR=0.289	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1167	18	0	1	0
chr17	7252986	7252986	A	G	exonic	ELP5	.	nonsynonymous SNV	ELP5:NM_203414:exon3:c.A224G:p.D75G,ELP5:NM_015362:exon4:c.A224G:p.D75G,ELP5:NM_203413:exon4:c.A224G:p.D75G,ELP5:NM_203415:exon4:c.A224G:p.D75G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00742102814908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190588423	3.42e-06	3.42e-06	2.722e-06	4.125e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	1.872e-05	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29959	T	0.103	0.41913	T	0.0	0.09854	B	0.003	0.12133	B	0.559693	0.05418	N	1.219570	1	0.08975	N	1.265	0.31966	L	0.88	0.47477	T	-1.32	0.44471	N	0.147	0.14905	-0.9542	0.40238	T	0.101	0.37543	T	10	0.09835547	0.17778	T	0.007421	0.19685	T	0.024	0.04979	0.49	0.57573	0.218112801441	0.21410	0.191406789114482	0.19058	0.189962663849	0.21315	0.256172716618	0.04445	T	0.027465	0.37585	T	-0.313887	0.07411	T	-0.507125	0.21610	T	0.0408736577079611	0.03849	T	0.420658	0.16072	T	0.08976017	0.20983	0.15943678	0.37183	0.08976017	0.20982	0.15943678	0.37182	-3.788	0.20625	T	.	.	0.101	0.20078	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.150884	0.05432	1.904	0.93349636407567027	0.23083	0.03014	0.07887	N	AEFGBHCI	0.123131	0.23859	N	-1.03556437496287	0.07874	0.3672516	-1.11924997359468	0.07333	0.3562676	0.999998785055348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.41	-2.68	0.05686	-0.329000	0.07978	-0.628000	0.08139	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.4733:0.0:0.5267:0.0	9.382	0.37478	538	0.73119	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2427.33	45	chr17	7252986	.	A	G	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=902;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.152;SOR=0.494	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	7309625	7309625	A	G	exonic	EIF5A	.	nonsynonymous SNV	EIF5A:NM_001143760:exon2:c.A80G:p.K27R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0526174261351	.	.	0.0001	0	0	0.0015	0	0	0	0.0002	0.00011	17	154602	rs746429767	0.0001	0.0001	0.0001	9.763e-05	0.0023	8.915e-05	8.399e-05	0.0020	0.0018	0	0	0	0.0023	0	0.0003	1.709e-05	0.0001	0.0003	7.879e-05	7.874e-05	5.14e-05	0.0001	0.0012	4.493e-05	3.51e-05	0.0005	0.0003	0	0	0	0	0.0012	9.42e-05	0.0034	1.47e-05	0	0.0006	0.053	0.38863	T	0.032	0.53426	D	0.029	0.19866	B	0.031	0.21939	B	0.093281	0.20231	U	0.305292	1	0.81001	D	.	.	.	0.88	0.46028	T	-0.36	0.13035	N	0.109	0.09490	-1.0681	0.09836	T	0.080	0.31824	T	9	0.029262096	0.01053	T	0.052617	0.65141	D	0.057	0.16321	0.165	0.06955	0.476094503173	0.47238	0.3783851578214257	0.37753	0.00238928338445	0.00204	0.652685165405	0.60367	T	.	.	.	-0.503611	0.00546	T	-0.553954	0.16947	T	0.0844405940852373	0.10545	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.19	0.12358	T	.	.	0.073	0.04681	B	.	.	2.637222	0.34303	19.59	0.99721329214629528	0.82054	0.95897	0.66626	D	AEFGBCI	0.902709	0.85090	D	-0.116004153232732	0.36696	2.124575	0.0189679040994113	0.40595	2.425291	0.99999999928651	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.13	4.13	0.47661	2.919000	0.48534	5.424000	0.48574	0.701000	0.85287	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.151	0.47685	550	0.72197	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001058	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1608.33	34	chr17	7309625	.	A	G	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=756;ExcessHet=0;FS=1.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.072;SOR=0.915	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1435	18	0	1	0
chr17	7317527	7317527	T	C	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon27:c.A4246G:p.M1416V,NEURL4:NM_032442:exon27:c.A4252G:p.M1418V	.	424	1079	19	0	0	19	0.00872761	.	.	.	704339	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0059	0.00459265	0.0053	0.0015	0.0027	0.0001	0.0003	0.0049	0.0122	0.0151	0.0053428	826	154602	rs144766007	0.0069	0.0069	0.0068	0.0071	0.0137	0.0068	0.0068	0.0131	0.0128	0.0009	0.0029	3.826e-05	2.519e-05	0.0004	0.0042	0.0076	0.0059	0.0137	0.0046	0.0046	0.0047	0.0044	0.0100	0.0043	0.0042	0.0077	0.0069	0.0015	0	0.0056	0.0003	0	0.0004	0.0170	0.0070	0.0057	0.0100	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000006	0.62929	N	0.109105	0.755215	0.29597	N	0.05	0.08135	N	1.77	0.25841	T	0.49	0.02993	N	0.394	0.43514	-1.0019	0.29372	T	0.017	0.06855	T	10	0.0062610805	0.00141	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.5707462383111115	0.57002	0.538728098851	0.51120	0.502444863319	0.39168	T	0.005909	0.05354	T	-0.536757	0.00350	T	-0.531467	0.19141	T	0.00742740142554384	0.00086	T	0.819218	0.47714	T	0.131274	0.30604	0.12637737	0.30437	0.131274	0.30603	0.12637737	0.30436	-1.456	0.01827	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	3.249548	0.44396	21.9	0.82686605787481182	0.14321	0.95828	0.66327	D	AEFDGBI	0.682930	0.64578	D	-0.54608992193611	0.20606	1.087518	-0.319335026908503	0.27474	1.524787	0.999460908403817	0.39843	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.84	3.76	0.42368	4.172000	0.58036	3.489000	0.38702	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0859:0.0:0.9141	9.451	0.37889	523	0.74147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	3264.83	47	chr17	7317527	.	T	C	3264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.367;DP=917;ExcessHet=0.119;FS=4.235;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.05;SOR=0.956	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	17	0	2	0
chr17	7318113	7318113	C	T	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon25:c.G4006A:p.E1336K,NEURL4:NM_032442:exon25:c.G4012A:p.E1338K	.	419	1102	1	0	0	1	0.000453515	.	.	.	2788783	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0283330982895	.	.	2.484e-05	0	8.64e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs201462316	4.994e-05	4.994e-05	5.581e-05	4.4e-05	0.0003	4.059e-05	3.734e-05	6.092e-05	3.407e-05	5.974e-05	4.472e-05	0.0003	0	0	0.0003	4.856e-05	6.623e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.081	0.41913	T	0.999	0.77913	D	0.982	0.75477	D	0.000092	0.51296	D	0.138683	0.996067	0.42998	D	1.525	0.38595	L	1.42	0.33189	T	-1.9	0.44284	N	0.806	0.82761	-0.9090	0.46977	T	0.176	0.51974	T	10	0.5414642	0.63743	D	0.028333	0.51029	D	0.292	0.61157	0.463	0.53242	0.184605227958	0.18053	0.8326094405453902	0.83219	0.726043199482	0.62491	0.852056920528	0.89924	D	0.056836	0.30398	T	0.0409885	0.57175	T	0.00139666	0.70427	D	0.436629235744476	0.30305	T	0.965603	0.87267	D	0.20734516	0.42938	0.15116133	0.35620	0.20734516	0.42938	0.15116133	0.35619	-3.955	0.23128	T	.	.	0.523	0.65692	A	.;.;.	.;.;.	4.673418	0.74716	26.2	0.99911165944867819	0.98022	0.97108	0.72736	D	AEFBI	0.827640	0.74689	D	0.638909655321769	0.75654	6.344126	0.618497174422481	0.76285	6.462626	0.999999994605327	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	6.380000	0.73090	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.291	0.87044	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2515.33	141	chr17	7318113	.	C	T	2515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=2084;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.006;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr17	7324137	7324137	G	A	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon11:c.C2033T:p.A678V,NEURL4:NM_032442:exon11:c.C2033T:p.A678V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0482443252584	.	.	8.369e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs767504785	1.916e-05	1.984e-05	2.043e-05	1.789e-05	6.956e-05	1.329e-05	1.144e-05	2.995e-05	2.038e-05	0	2.236e-05	0	2.519e-05	0	0	1.799e-05	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.115	0.36630	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.59	0.40313	L	-0.77	0.73523	T	-3.25	0.65283	D	0.803	0.79889	-0.0981	0.80141	T	0.524	0.82240	D	10	0.75030124	0.75588	D	0.048244	0.63287	D	0.563	0.82118	0.561	0.68093	0.337947466952	0.33407	0.6329897992714737	0.63232	1.37279680966	0.84579	0.710451126099	0.68659	T	0.173699	0.52265	T	0.115569	0.65925	D	0.109758	0.77558	D	0.845667064189911	0.49796	D	0.90061	0.65471	D	0.338302	0.56144	0.29920986	0.55954	0.338302	0.56144	0.29920986	0.55953	-10.445	0.76566	D	.	.	0.972	0.92504	P	.;.;.	.;.;.	5.365964	0.89973	31	0.99933081967115067	0.99488	0.98727	0.86082	D	AEFDBCI	0.882642	0.81092	D	0.723991157959819	0.81204	7.467985	0.732819301002863	0.84869	8.414119	0.999999999998768	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.7	5.7	0.88690	6.180000	0.71914	11.743000	0.95236	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.619	0.91269	429	0.80881	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	42	chr17	7324137	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=803;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.223;SOR=0.504	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D,TNK1:NM_003985:exon7:c.C896A:p.A299D	.	418	1062	39	3	0	45	0.0207469	.	.	.	3217119	TNK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021277	0.025510	0.015027	0.032164	0.050000	0.034483	0.027607	0.000000	0.02632	241.33	34	chr17	7384513	.	C	A	241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=658;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.02;SOR=0.361	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1256	18	0	1	0
chr17	7387124	7387124	G	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon9:c.G1382A:p.R461Q,TNK1:NM_003985:exon9:c.G1367A:p.R456Q	.	435	1084	3	0	0	3	0.00138185	.	.	.	3210618	TNK1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.088	0.0433254388713	0.0004	0.00219649	0.0011	0	0	0.0090	0.0010	0.0004	0.0038	0.0011	0.0009056	140	154602	rs117725656	0.0005	0.0005	0.0005	0.0006	0.0092	0.0005	0.0005	0.0085	0.0082	0.0002	9.366e-05	0.0009	0.0092	0.0012	0.0023	0.0002	0.0007	0.0011	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0005	0.0060	0.0053	2.428e-05	0	0.0005	0.0006	0.0079	0.0010	0	0.0003	0.0014	0.0017	.	.	.	0.457	0.13030	T	0.005	0.12996	B	0.002	0.06944	B	0.783791	0.06670	N	1.134030	1	0.08975	N	0.77	0.19370	N	-0.96	0.75553	T	.	.	.	0.16	0.16725	-1.0047	0.28547	T	0.119	0.41648	T	10	0.0052711964	0.00115	T	0.043325	0.60925	D	.	.	.	.	0.386234084001	0.38240	0.31638417363313465	0.31551	0.205651813161	0.22987	0.243927806616	0.03154	T	0.074936	0.35059	T	-0.515326	0.00468	T	-0.506892	0.21634	T	0.00813035949757539	0.00097	T	.	.	.	0.038573947	0.05166	0.05249558	0.08661	0.038573947	0.05166	0.05249558	0.08660	-3.823	0.21149	T	.	.	0.069	0.02960	B	.;.	.;.	0.733570	0.11029	7.685	0.93778345746620118	0.23734	0.00780	0.03203	N	AEFDBI	0.039673	0.05796	N	-1.37282017149591	0.02895	0.1285184	-1.35514634220426	0.03746	0.1753497	0.885995097100087	0.25731	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	4.82	-3.14	0.04928	-0.584000	0.05893	-0.263000	0.10410	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.207000	0.22098	0.708:0.0:0.292:0.0	10.103	0.41687	192	0.92531	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	643.33	34	chr17	7387124	.	G	A	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.616;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1447	18	0	1	0
chr17	7404063	7404063	A	T	exonic	TMEM256	.	nonsynonymous SNV	TMEM256:NM_152766:exon1:c.T22A:p.F8I	.	434	1087	1	0	0	1	0.00045977	.	.	.	3913834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0316026905316	.	.	2.048e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs762063272	1.729e-05	1.71e-05	8.233e-06	2.649e-05	8.361e-05	1.187e-05	1.003e-05	3.867e-05	2.727e-05	0	0	0	0	0	0	1.268e-05	6.702e-05	8.361e-05	1.972e-05	1.97e-05	2.571e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.23	0.18308	T	0.261	0.22962	T	0.981	0.59675	D	0.966	0.71341	D	0.001335	0.39379	N	0.211529	0.603517	0.81001	D	1.635	0.41844	L	.	.	.	-3.52	0.68412	D	0.709	0.71232	-0.5690	0.66054	T	0.220	0.58306	T	9	0.5998661	0.66851	D	0.031603	0.53648	D	0.216	0.50959	0.536	0.64585	0.0551355673512	0.04727	0.6322735677690371	0.63161	0.623859276739	0.56610	0.751865029335	0.74721	T	0.107864	0.42043	T	-0.0931415	0.37558	T	-0.185664	0.55995	T	0.98097550868988	0.73651	D	.	.	.	0.29042196	0.52032	0.3615811	0.61579	0.29042196	0.52032	0.3615811	0.61578	-8.456	0.64137	D	.	.	0.455	0.62465	A	.	.	3.792617	0.54594	23.5	0.96050570207575747	0.28561	0.42641	0.26923	N	ALL	0.330067	0.43022	N	0.306646320521093	0.56489	3.813681	0.271067947057932	0.53856	3.552716	0.999999999999087	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.97	4.97	0.65419	2.062000	0.41039	11.120000	0.86527	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.551000	0.30197	1.0:0.0:0.0:0.0	10.963	0.46608	197	0.92378	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001015	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	990.33	46	chr17	7404063	.	A	T	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=784;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.395;SOR=0.436	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr17	7408343	7408343	G	A	exonic	NLGN2	.	nonsynonymous SNV	NLGN2:NM_020795:exon1:c.G88A:p.G30S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.592312774493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.515e-06	4.79e-06	2.992e-06	0	3.419e-05	2.5e-07	9e-08	.	.	0	0	0	3.419e-05	0	0	9.554e-07	0	0	6.587e-06	6.569e-06	0	1.349e-05	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.721	0.03914	T	0.562	0.09052	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999816	0.20249	N	0	0.06538	N	-0.13	0.64818	T	0.32	0.03955	N	0.237	0.26717	-1.0058	0.28216	T	0.076	0.30429	T	9	0.11106351	0.20783	T	0.592313	0.96383	D	0.053	0.14996	0.407	0.44066	0.662252350959	0.65942	0.31131972422787396	0.31044	1.11437822054	0.78135	0.872429609299	0.92914	D	0.019699	0.15646	T	-0.150091	0.28297	T	-0.453372	0.27325	T	0.052731052326938	0.05973	T	.	.	.	0.06915514	0.15127	0.05971561	0.11255	0.06915514	0.15127	0.05971561	0.11255	-6.497	0.50263	T	.	.	0.111	0.21950	B	.;.	.;.	2.409944	0.30976	18.60	0.96685431597445992	0.30715	0.26953	0.23140	N	AEFDBI	0.102800	0.20611	N	-1.05426248404282	0.07504	0.3488123	-0.979650333537696	0.10243	0.5146254	0.999037301556852	0.38264	0.646311	0.45356	0	0.588066	0.40923	0	0.64067	0.45733	0	0.699875	0.68795	0	.	.	3.21	1.19	0.20120	1.591000	0.36275	2.932000	0.35621	0.496000	0.22519	0.196000	0.24261	0.999000	0.35428	0.951000	0.49849	0.2475:0.0:0.5328:0.2197	2.847	0.05205	201	0.92177	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	39	chr17	7408343	.	G	A	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=695;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.542;SOR=0.969	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1353	18	0	1	0
chr17	7421068	7421068	C	G	exonic	SPEM1	.	nonsynonymous SNV	SPEM1:NM_199339:exon3:c.C393G:p.D131E	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00281329444933	.	0.00119808	0.0004	0	0	0	0	0	0	0.0033	0.0003881	60	154602	rs544110406	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0003	1.799e-06	0.0001	0.0038	0.0001	0.0001	7.708e-05	0.0002	0.0041	9.142e-05	7.699e-05	0.0027	0.0023	0	0	0	0	0	0	0	1.47e-05	0	0.0041	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.862	0.61339	P	0.002242	0.36929	N	0.117394	1	0.08975	N	1.495	0.37439	L	.	.	.	-2.67	0.57110	D	0.282	0.31925	-1.0465	0.15389	T	0.097	0.36471	T	9	0.0072458386	0.00165	T	0.002813	0.05869	T	0.101	0.28911	0.27	0.21893	0.17948927462	0.17512	0.0351213433324631	0.03459	0.570573104632	0.53213	0.404176592827	0.25649	T	0.504916	0.82379	D	-0.271271	0.11615	T	-0.162958	0.58085	T	0.170429248657053	0.18609	T	.	.	.	0.33833203	0.56146	0.33810577	0.59592	0.33833203	0.56146	0.33810577	0.59592	-3.38	0.14788	T	.	.	0.383	0.58622	A	.	.	2.367953	0.30382	18.42	0.99558548293148097	0.71645	0.13242	0.17745	N	AEFDBI	0.059555	0.11256	N	-0.25322307867832	0.30974	1.732309	-0.365903499744106	0.26021	1.434674	8.77893951803576E-5	0.04703	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.77	-0.707	0.10679	-0.057000	0.11726	-0.277000	0.10300	-0.180000	0.10397	0.132000	0.23378	0.000000	0.08366	0.535000	0.29822	0.0:0.4527:0.1416:0.4058	5.367	0.15419	262	0.89730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	967.33	33	chr17	7421068	.	C	G	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=701;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.239;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	18	0	1	0
chr17	7436563	7436563	G	T	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.G584T:p.S195I,TMEM102:NM_178518:exon3:c.G584T:p.S195I	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0193073618394	7.7e-05	0.00139776	0.0007	0	0	0.0001	0	0.0002	0	0.0040	0.0005886	91	154602	rs141257669	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	2.236e-05	3.826e-05	0	5.632e-05	0.0007	0.0002	0.0003	0.0046	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	6.533e-05	0	0	0	0	0.0003	0	0.0050	0.022	0.48642	D	0.039	0.51112	D	0.047	0.21998	B	0.017	0.18140	B	0.434760	0.04725	N	1.333950	1	0.08975	N	1.1	0.28011	L	0.84	0.47477	T	0.33	0.03889	N	0.099	0.11197	-0.9817	0.34608	T	0.096	0.36107	T	10	0.0027632415	0.00043	T	0.019307	0.41638	T	0.015	0.02232	.	.	0.218112801441	0.21410	0.214915129252313	0.21407	.	.	0.233794212341	0.02260	T	0.003231	0.02636	T	-0.556837	0.00265	T	-0.572094	0.15259	T	0.0130386946298498	0.00227	T	.	.	.	0.1353944	0.31424	0.05465924	0.09443	0.1353944	0.31424	0.05465924	0.09443	-5.857	0.45067	T	.	.	0.106	0.19919	B	.;.	.;.	1.236927	0.16323	12.46	0.95449092448098494	0.26966	0.07728	0.13729	N	ALL	0.056827	0.10537	N	-1.09987454326042	0.06646	0.3065273	-1.16062008243892	0.06579	0.3171468	0.999999999921669	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.3	-1.6	0.07977	0.252000	0.18046	1.109000	0.24140	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4415:0.1477:0.4109:0.0	5.041	0.13797	301	0.87912	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2945.33	39	chr17	7436563	.	G	T	2945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.092;DP=829;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.781;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	7454515	7454515	C	T	exonic	CHRNB1	.	nonsynonymous SNV	CHRNB1:NM_000747:exon8:c.C1039T:p.R347C	Myasthenic syndrome, congenital, 2A, slow-channel, Autosomal dominant	38	1482	2	0	0	2	0.000674309	.	.	.	2869445	Congenital_myasthenic_syndrome_2A|Inborn_genetic_diseases	MONDO:MONDO:0014581,MedGen:C4225374,OMIM:616313,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.0582131831101	.	0.000199681	7.419e-05	0	0	0	0	7.496e-05	0	0.0002	6.47e-05	10	154602	rs201913823	4.037e-05	4.104e-05	2.451e-05	5.639e-05	0.0009	3.179e-05	2.911e-05	0.0003	0.0002	0	6.708e-05	0	0	0	0.0009	2.969e-05	6.624e-05	0.0002	3.941e-05	3.937e-05	5.141e-05	2.687e-05	0.0004	1.715e-05	1.129e-05	7.29e-05	3.029e-05	2.407e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0004	0.024	0.47745	D	0.031	0.54934	D	0.21	0.29968	B	0.08	0.28873	B	0.005248	0.32962	N	0.280908	0.999765	0.48888	D	2.935	0.84639	M	-0.83	0.88066	T	-6.29	0.90729	D	0.434	0.49783	-0.1987	0.77704	T	0.392	0.74561	T	10	0.68774974	0.71666	D	0.058213	0.67240	D	0.430	0.73662	0.834	0.94231	0.950929833191	0.95040	0.8663969077087028	0.86604	0.748489768835	0.63640	0.360567986965	0.19468	T	0.877482	0.97405	D	-0.0821512	0.39364	T	-0.0961019	0.63698	T	0.487521650999839	0.32173	T	.	.	.	0.43517837	0.63090	0.4141617	0.65568	0.43517837	0.63091	0.4141617	0.65568	-8.629	0.65877	D	.	.	0.257	0.53641	B	.;.;.	.;.;.	4.778136	0.77414	26.7	0.99692048320680193	0.79977	0.89387	0.49821	D	AEFBI	0.558484	0.56769	D	0.171940126847544	0.49854	3.181375	0.217495240256763	0.50819	3.269944	0.999964382401519	0.48965	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.2	3.03	0.34070	1.751000	0.37967	3.922000	0.40477	0.549000	0.26987	0.660000	0.28260	0.999000	0.35428	0.983000	0.59808	0.1861:0.7163:0.0:0.0977	6.082	0.19170	262	0.89730	Neurotransmitter-gated ion-channel transmembrane domain;.;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	860.33	35	chr17	7454515	.	C	T	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=723;ExcessHet=0;FS=2.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.999;SOR=0.401	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	18	0	1	0
chr17	7586913	7586913	G	C	exonic	MPDU1	.	nonsynonymous SNV	MPDU1:NM_004870:exon5:c.G403C:p.A135P	Congenital disorder of glycosylation, type If, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	101080	MPDU1-congenital_disorder_of_glycosylation|not_specified|not_provided	MONDO:MONDO:0012211,MedGen:C1836669,OMIM:609180,Orphanet:79323|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0008	0.0161741	0.0042	0.0017	0.0003	0.0522	0	1.503e-05	0.0022	0.0020	0.0043725	676	154602	rs137983973	0.0015	0.0015	0.0016	0.0015	0.0401	0.0015	0.0015	0.0385	0.0378	0.0007	0.0001	0	0.0401	0	0.0002	2.158e-05	0.0063	0.0026	0.0026	0.0026	0.0023	0.0029	0.0579	0.0024	0.0023	0.0525	0.0504	0.0014	0	0.0006	0	0.0579	0	0	1.471e-05	0.0043	0.0044	0.082	0.33254	T	0.194	0.28120	T	0.008	0.14655	B	0.016	0.17743	B	0.815376	0.09219	N	0.919308	0.703499	0.33445	D	2.135	0.59519	M	-1.02	0.89757	T	-2.46	0.53736	N	0.745	0.74462	-0.7373	0.58591	T	0.189	0.54034	T	10	0.003244996	0.00055	T	.	.	.	0.503	0.78538	.	.	0.771468116439	0.76937	0.8378023048470213	0.83740	0.467872825609	0.46150	0.310905426741	0.12044	T	0.077252	0.45655	T	-0.146775	0.28819	T	0.0581269	0.74120	D	0.033098506086277	0.02488	T	0.668933	0.28201	T	0.2399086	0.46888	0.38694656	0.63575	0.3057495	0.53415	0.4921482	0.70624	-12.074	0.85209	D	0.4213529673471402	0.51008	0.533	0.66033	A	.;.	.;.	2.130187	0.27123	17.35	0.92551991003991496	0.22001	0.64220	0.32337	D	ALL	0.657111	0.62886	D	-0.396375542747119	0.25599	1.390747	-0.391356152701008	0.25253	1.387677	0.999999999999853	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.51	4.52	0.54797	3.084000	0.49841	4.434000	0.43361	0.676000	0.76740	0.343000	0.25700	0.925000	0.28409	0.803000	0.37862	0.0:0.0:0.8191:0.1809	11.330	0.48710	496	0.76301	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2573.33	40	chr17	7586913	.	G	C	2573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.475;SOR=0.688	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	18	0	1	0
chr17	7626514	7626514	G	A	exonic	SAT2	.	nonsynonymous SNV	SAT2:NM_001320846:exon5:c.C581T:p.T194M,SAT2:NM_001320847:exon5:c.C344T:p.T115M,SAT2:NM_001320845:exon6:c.C683T:p.T228M,SAT2:NM_133491:exon6:c.C446T:p.T149M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0521486200565	.	.	2.471e-05	0	0.0002	0	0.0002	0	0	0	2.59e-05	4	154602	rs774305138	3.078e-05	3.078e-05	2.586e-05	3.575e-05	0.0001	2.347e-05	2.095e-05	3.348e-05	1.981e-05	2.987e-05	6.708e-05	0	0.0001	1.872e-05	0	2.968e-05	1.656e-05	2.319e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.555e-05	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.102374	0.999943	0.81001	D	3.55	0.93268	H	0.95	0.43279	T	-3.99	0.73893	D	0.68	0.73465	-0.3601	0.73260	T	0.300	0.67111	T	10	0.6674231	0.70510	D	0.052149	0.64951	D	0.383	0.70029	0.362	0.36711	0.475272412942	0.47157	0.5701939509739605	0.56947	1.16460324479	0.79582	0.483010947704	0.36471	T	0.072834	0.36107	T	-0.00750186	0.50613	T	-0.0515809	0.66914	D	0.943543097026935	0.61881	D	0.944706	0.80929	D	0.5450804	0.69681	0.48715168	0.70320	0.5450804	0.69682	0.48715168	0.70321	-11.263	0.81081	D	.	.	0.471	0.63219	A	.;.	.;.	4.800886	0.77998	26.8	0.9989427228709713	0.96742	0.95931	0.66774	D	AEFDGBI	0.819733	0.74068	D	0.737748468028319	0.82104	7.681124	0.631194361250947	0.77217	6.636995	0.999999971881177	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.2	4.2	0.48814	7.002000	0.76057	8.504000	0.77368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.1813:0.8187:0.0	11.445	0.49361	561	0.71236	GNAT domain;GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1534.33	33	chr17	7626514	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=744;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.749;SOR=0.539	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1314	18	0	1	0
chr17	7764030	7764030	-	AGTGC	exonic	DNAH2	.	frameshift insertion	DNAH2:NM_020877:exon19:c.3178_3179insAGTGC:p.I1061Cfs*23	.	405	1108	8	1	0	10	0.00449236	.	.	.	3210420	DNAH2-related_disorder|Spermatogenic_failure_45	.|MONDO:MONDO:0033671,MedGen:C5436791,OMIM:619094	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0018	0.00139776	0.0021	0.0005	0.0008	0	0.0015	0.0033	0.0022	0.0007	0.0019146	296	154602	rs538321530	0.0020	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0020	0.0020	0.0003	0.0010	0.0058	2.519e-05	0.0024	0.0024	0.0021	0.0019	0.0010	0.0018	0.0018	0.0020	0.0017	0.0028	0.0017	0.0016	0.0023	0.0022	0.0003	0	0.0028	0.0043	0	0.0016	0.0034	0.0026	0.0033	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1239.29	33	chr17	7764030	.	A	AAGTGC	1239.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.096;DP=699;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.175;SOR=0.88	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr17	7770612	7770612	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon26:c.A4154G:p.Y1385C	.	430	1077	15	0	0	15	0.00691563	.	.	.	2743779	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.709	0.0443228516357	0.0041	0.00219649	0.0040	0.0013	0.0030	0	0.0026	0.0052	0.0022	0.0043	0.004062	628	154602	rs140035206	0.0051	0.0051	0.0051	0.0051	0.0088	0.0050	0.0050	0.0069	0.0062	0.0010	0.0043	0.0031	2.519e-05	0.0029	0.0088	0.0057	0.0051	0.0043	0.0043	0.0043	0.0042	0.0044	0.0089	0.0040	0.0039	0.0077	0.0072	0.0014	0	0.0089	0.0023	0.0002	0.0025	0.0034	0.0059	0.0019	0.0033	0.003	0.68238	D	.	.	.	0.999	0.77913	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	4.02	0.96873	H	-0.15	0.65192	T	-7.77	0.95842	D	0.814	0.80964	0.338	0.88157	D	0.494	0.80791	T	10	0.036302477	0.01921	T	0.044323	0.61432	D	0.709	0.89605	.	.	0.655819544414	0.65294	0.8732973251996463	0.87295	1.06520644226	0.76608	0.698817670345	0.66973	T	0.628409	0.88451	D	-0.00270223	0.51281	T	0.227487	0.84546	D	0.0815492577165311	0.10185	T	0.947805	0.79866	D	0.9062806	0.91951	0.9286631	0.97003	0.9062806	0.91952	0.9286631	0.97003	-8.484	0.64323	D	.	.	0.261	0.49596	B	.;.	.;.	4.450265	0.69175	25.3	0.99840570559873654	0.92143	0.98284	0.81251	D	AEFGBI	0.801294	0.72704	D	0.961337048979557	0.94425	12.74769	0.878503994415669	0.94567	12.862	0.954006018860373	0.28106	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	7.052000	0.76345	9.355000	0.80329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.101	0.71944	234	0.90879	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.006793	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	1804.33	33	chr17	7770612	.	A	G	1804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=811;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.384;SOR=0.504	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1442	18	0	1	0
chr17	7794327	7794327	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon49:c.G7643A:p.R2548H	.	415	1100	7	0	0	7	0.00317173	.	.	.	2814858	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.402	0.0111905193113	0.0054	0.00399361	0.0046	0.0009	0.0024	0	0.0031	0.0067	0.0033	0.0029	0.004877	754	154602	rs11656500	0.0066	0.0066	0.0067	0.0064	0.0077	0.0064	0.0064	0.0076	0.0075	0.0012	0.0026	0.0023	2.559e-05	0.0027	0.0010	0.0077	0.0053	0.0039	0.0047	0.0047	0.0045	0.0049	0.0075	0.0045	0.0043	0.0069	0.0067	0.0014	0.0351	0.0048	0.0012	0	0.0020	0.0034	0.0075	0.0043	0.0031	0.065	0.36310	T	.	.	.	0.947	0.53479	P	0.708	0.54437	P	0.000013	0.62929	D	0.061409	0.999987	0.54805	D	-0.225	0.03956	N	-0.2	0.66113	T	-3.3	0.65858	D	0.4	0.44090	-0.9207	0.45458	T	0.129	0.43867	T	10	0.013890773	0.00293	T	0.011191	0.28559	T	0.402	0.71558	.	.	0.570543898189	0.56720	0.5127155948399713	0.51193	0.494379623259	0.47999	0.728341758251	0.71264	T	0.204485	0.56327	T	-0.101338	0.36203	T	0.0910532	0.76316	D	0.0292887383514319	0.01882	T	0.957304	0.83911	D	0.28714183	0.51726	0.23465924	0.48688	0.28714183	0.51726	0.23465924	0.48687	-8.041	0.61350	D	.	.	0.182	0.39562	B	.;.	.;.	4.981156	0.82510	27.8	0.99932708923725766	0.99439	0.96575	0.69827	D	AEFDBI	0.690709	0.65095	D	0.282876258352769	0.55279	3.692153	0.41244457907558	0.62339	4.447709	0.999075035344742	0.38370	0.616025	0.39624	0	0.59043	0.45803	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	5.548000	0.66963	11.782000	0.96139	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.890	0.92366	343	0.85802	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1247.33	33	chr17	7794327	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.351;DP=774;ExcessHet=0;FS=7.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0.388;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr17	7830345	7830345	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon78:c.C11899T:p.P3967S	.	425	1082	15	0	0	15	0.00688389	.	.	.	704403	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00205329172863	0.0021	0.00119808	0.0028	0.0003	0.0015	0	0	0.0044	0.0022	0.0010	0.0025161	389	154602	rs149406306	0.0024	0.0024	0.0023	0.0025	0.0160	0.0024	0.0023	0.0133	0.0123	0.0005	0.0021	0.0236	2.519e-05	0.0001	0.0160	0.0022	0.0040	0.0008	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0006	0	0.0048	0.0260	0.0002	0	0.0034	0.0023	0.0033	0.0010	0.627	0.05198	T	0.659	0.06533	T	0.0	0.02946	B	0.004	0.10090	B	0.658470	0.05965	N	1.159560	1	0.08975	N	0.895	0.22405	L	3.11	0.08194	T	-0.04	0.07590	N	0.104	0.08786	-0.9354	0.43333	T	0.008	0.02801	T	10	0.004812062	0.00102	T	0.002053	0.03748	T	0.035	0.08770	.	.	0.124217242631	0.12060	0.1587861830143489	0.15799	0.274421442702	0.29933	0.300274163485	0.10441	T	0.015995	0.13307	T	-0.618727	0.00112	T	-0.665526	0.07898	T	0.00263562579694422	0.00027	T	0.693931	0.30359	T	0.06966676	0.15284	0.07255256	0.15666	0.06966676	0.15283	0.07255256	0.15666	-4.262	0.27641	T	.	.	0.063	0.01387	B	.;.;.	.;.;.	-0.027235	0.04097	0.964	0.38510695887481283	0.02602	0.06659	0.12677	N	AEFBI	0.054567	0.09932	N	-0.998363504325872	0.08639	0.405821	-0.984771868095073	0.10126	0.5080766	0.035612651969851	0.14208	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.55	-2.96	0.05212	-0.699000	0.05188	-1.498000	0.05304	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.1004:0.4046:0.2067:0.2883	2.580	0.04523	290	0.88477	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013595	0.000000	0.014946	0.040936	0.100000	0.008621	0.000000	0.011364	0.02632	1156.33	33	chr17	7830345	.	C	T	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.344;SOR=0.783	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1170,0,825	18	0	1	0
chr17	7846859	7846859	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.752_753insACCACCACCACC:p.P264_L265insPPPP,KDM6B:NM_001348716:exon9:c.752_753insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	3206840	KDM6B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779500270	0.0019	0.0021	0.0019	0.0018	0.0091	0.0018	0.0018	0.0083	0.0079	0.0031	0.0017	0.0041	0.0091	0.0010	0.0014	0.0016	0.0021	0.0012	0.0023	0.0024	0.0025	0.0021	0.0079	0.0021	0.0020	0.0058	0.0051	0.0031	0	0.0021	0.0048	0.0079	0.0012	0	0.0017	0.0007	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	48123.2	86	chr17	7846859	.	T	TACCACCACCACC	48123.2	.	AC=1;AF=0.026;AN=38;DP=1834;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.026;MQ=59.91;QD=33.3;SOR=1.49	GT:AD:DP:GQ:PL	0/0:0,0:69:99:2988,2991,2993	18	0	1	0
chr17	7848258	7848258	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C1970T:p.P657L,KDM6B:NM_001348716:exon11:c.C1970T:p.P657L	.	.	.	.	.	.	.	.	.	.	.	226965	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.085	0.011917983285	0.0002	0.000199681	0.0006	0.0001	0.0019	0.0001	0.0017	0.0005	0.0024	6.12e-05	0.0004851	75	154602	rs199964822	0.0005	0.0005	0.0006	0.0005	0.0013	0.0005	0.0005	0.0010	0.0009	2.987e-05	0.0013	3.826e-05	0.0001	0.0019	0	0.0005	0.0005	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	7.246e-05	0	0.0005	0	0.0006	0.0012	0	0.0003	0	0	0.0	0.91255	D	0.122	0.35710	T	0.999	0.77913	D	0.923	0.65830	D	0.018594	0.27448	N	0.258207	0.997906	0.44305	D	0.805	0.20218	L	2.33	0.16492	T	-1.27	0.31981	N	0.42	0.48689	-1.1151	0.02666	T	0.050	0.21456	T	10	0.016664922	0.00352	T	0.011918	0.30017	T	0.085	0.24743	.	.	0.128874641272	0.12493	0.21773372950212505	0.21689	0.118197512317	0.13304	0.689768314362	0.65673	T	0.057853	0.30681	T	-0.438768	0.01315	T	-0.438414	0.28988	T	0.0408264993348585	0.03840	T	0.783522	0.42019	T	0.15006748	0.34182	0.17881186	0.40575	0.15006748	0.34181	0.17881186	0.40575	-4.433	0.30001	T	.	.	0.073	0.04599	B	.;.	.;.	3.527968	0.49482	22.8	0.98961515738670036	0.49344	0.26356	0.22969	N	AEFBI	0.121560	0.23629	N	0.0145258382977159	0.42515	2.563123	-0.0422747507213161	0.37827	2.220095	0.996407304241652	0.34722	0.562547	0.31514	0	0.577304	0.33150	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	3.556000	0.53480	4.612000	0.44040	0.549000	0.26987	0.799000	0.29708	1.000000	0.68203	0.587000	0.31065	0.0:0.8301:0.1699:0.0	12.429	0.54901	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	33	chr17	7848258	.	C	T	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.977;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1272	18	0	1	0
chr17	7848827	7848827	G	A	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.G2539A:p.A847T,KDM6B:NM_001348716:exon11:c.G2539A:p.A847T	.	1	1517	3	1	0	5	0.00164528	.	.	.	3205602	KDM6B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.140	0.0482522577001	.	0.000998403	0.0007	0	8.772e-05	0	0	1.596e-05	0	0.0048	0.0005433	84	154602	rs544407908	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0	2.236e-05	0	0	0	0.0010	2.608e-05	0.0001	0.0052	0.0002	0.0002	7.726e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0	0	0	0	0	0.0054	0.092	0.32141	T	0.582	0.08594	T	0.001	0.07471	B	0.001	0.04355	B	0.897280	0.07333	N	1.055200	1	0.08975	N	0.205	0.09354	N	-1.07	0.76948	T	0.32	0.03955	N	0.106	0.10056	-0.9653	0.38151	T	0.177	0.52209	T	10	0.0033332407	0.00058	T	0.048252	0.63291	D	0.140	0.37593	0.087	0.00904	0.134007934775	0.12933	0.2295089003985971	0.22865	0.155533822326	0.17554	0.578709959984	0.49904	T	0.054683	0.29794	T	-0.570583	0.00220	T	-0.591013	0.13578	T	0.00383810070956716	0.00041	T	0.513049	0.16451	T	0.038884282	0.05266	0.04700208	0.06676	0.038884282	0.05266	0.04700208	0.06676	-3.929	0.22738	T	.	.	0.072	0.08129	B	.;.	.;.	1.480569	0.19059	14.07	0.85471709495936921	0.15914	0.03543	0.08739	N	AEFDBI	0.033263	0.03911	N	-1.5199133152869	0.01718	0.07523048	-1.50239187449609	0.02326	0.1067976	0.390753064573644	0.20044	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.47	-1.56	0.08080	0.532000	0.22776	2.355000	0.32337	-0.959000	0.01990	0.008000	0.17931	0.873000	0.27615	0.062000	0.16114	0.2904:0.3249:0.3846:0.0	4.254	0.10159	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1006.33	33	chr17	7848827	.	G	A	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.567;DP=773;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.027;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	7849163	7849165	AAG	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon11:c.2875_2877del:p.K959del,KDM6B:NM_001348716:exon11:c.2875_2877del:p.K959del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.813e-05	0	0	0.0010	0	2.053e-05	0	0	5.17e-05	8	154602	rs752737688	3.496e-05	3.489e-05	2.455e-05	4.548e-05	0.0012	2.702e-05	2.443e-05	0.0009	0.0008	2.99e-05	0	0	0.0012	0	0	2.7e-06	1.66e-05	0	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2003.29	33	chr17	7849162	.	CAAG	C	2003.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-1.005;SOR=0.685	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	7849191	7849191	T	G	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.T2903G:p.V968G,KDM6B:NM_001348716:exon11:c.T2903G:p.V968G	.	0	1512	10	0	0	10	0.00329598	.	.	.	3275748	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00529791172589	.	0.000399361	0.0010	0	0	0	0	8.479e-05	0	0.0051	0.0004916	76	154602	rs542259827	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	9.07e-05	0	0	0	0.0012	1.263e-05	0.0004	0.0038	0.0001	0.0001	5.141e-05	0.0002	0.0033	7.575e-05	6.28e-05	0.0021	0.0017	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0033	0.105	0.29823	T	0.415	0.14412	T	0.0	0.02946	B	0.0	0.01387	B	0.434170	0.04722	N	1.405150	0.935682	0.26937	N	-0.695	0.01866	N	1.53	0.30401	T	0.65	0.02332	N	0.143	0.14338	-1.0121	0.26259	T	0.034	0.14464	T	10	0.0031026602	0.00052	T	0.005298	0.13556	T	0.023	0.04649	0.196	0.10839	0.0675242888579	0.06100	0.1708826734579533	0.17008	0.16178190297	0.18257	0.423045635223	0.28256	T	0.044645	0.26878	T	-0.577961	0.00198	T	-0.603259	0.12539	T	0.00895410566764721	0.00112	T	0.189081	0.01998	T	0.03826637	0.05067	0.04962776	0.07621	0.03826637	0.05066	0.04962776	0.07621	-1.653	0.02162	T	.	.	0.063	0.02797	B	.;.	.;.	1.119669	0.15051	11.55	0.47353440741326613	0.03865	0.00766	0.03164	N	AEFBCI	0.011068	0.00091	N	-1.26717863667571	0.04078	0.1833501	-1.21589550155425	0.05654	0.2699959	0.0800907385675399	0.15836	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	4.2	0.723	0.17384	1.389000	0.34060	-0.126000	0.11669	-0.153000	0.12021	0.211000	0.24435	0.000000	0.08366	0.259000	0.23493	0.0:0.278:0.3803:0.3417	6.239	0.19993	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1632.33	132	chr17	7849191	.	T	G	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=805;ExcessHet=0;FS=3.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.675;SOR=1.03	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	7849441	7849441	-	CCTCCATCAGCTCCTGCA	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon11:c.3153_3154insCCTCCATCAGCTCCTGCA:p.P1058_S1059insPSAPAP,KDM6B:NM_001348716:exon11:c.3153_3154insCCTCCATCAGCTCCTGCA:p.P1058_S1059insPSAPAP	.	1	1520	1	0	0	1	0.000328839	.	.	.	2405704	Neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities	MONDO:MONDO:0032790,MedGen:C5193134,OMIM:618505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	4.104e-06	4.088e-06	4.13e-06	5.799e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.658e-05	5.799e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1042.29	44	chr17	7849441	.	C	CCCTCCATCAGCTCCTGCA	1042.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=761;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.319;SOR=0.847	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,113,1389	18	0	1	0
chr17	8012211	8012211	G	A	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon9:c.G1817A:p.G606D	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	846435	Leber_congenital_amaurosis_1|Cone-rod_dystrophy_6	MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.0728892766448	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451847992	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.492	0.11479	T	0.863	0.47474	P	0.602	0.50862	P	0.292352	0.14745	N	0.615343	1	0.08975	N	1.89	0.50145	L	-1.63	0.82440	D	-1.23	0.31170	N	0.346	0.38746	-0.3300	0.74133	T	0.508	0.81469	D	10	0.43027937	0.57445	T	0.072889	0.71649	D	0.341	0.66297	0.481	0.56142	0.899498882341	0.89850	0.6493262259739172	0.64868	0.564402369025	0.52825	0.315518379211	0.12742	T	0.200132	0.55761	T	-0.0635184	0.42357	T	-0.246151	0.50197	T	0.384451121091843	0.28353	T	0.446155	0.12501	T	0.12055998	0.28366	0.17486504	0.39912	0.12055998	0.28365	0.17486504	0.39911	-6.018	0.46431	T	.	.	0.089	0.12181	B	.	.	2.241256	0.28623	17.86	0.95418905311368007	0.26894	0.72214	0.35354	D	AEFDBI	0.415415	0.48428	N	-0.0606055550535999	0.39129	2.302646	-0.150807532677231	0.33378	1.908636	0.999937956630876	0.46732	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	2.826000	0.47805	4.850000	0.45366	0.676000	0.76740	0.037000	0.20830	0.961000	0.29326	0.038000	0.14061	0.0:0.0:1.0:0.0	16.444	0.83751	658	0.62094	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1656.33	34	chr17	8012211	.	G	A	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=773;ExcessHet=0;FS=6.292;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.479;SOR=0.907	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1670,0,1971	18	0	1	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001039131:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001141:exon10:c.G1382A:p.R461Q	.	427	1054	40	1	0	42	0.0195349	.	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.005051	0.005435	0.008772	0.000000	0.017241	0.009146	0.022727	0.02632	2022.33	42	chr17	8047001	.	G	A	2022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=766;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-3.05;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr17	8148751	8148751	T	C	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon8:c.A941G:p.Q314R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00558575014129	.	0.000199681	5.774e-05	0	0	0	0	1.5e-05	0	0.0004	5.17e-05	8	154602	rs552612674	2.668e-05	2.668e-05	1.634e-05	3.713e-05	0.0003	1.998e-05	1.754e-05	0.0002	0.0002	2.988e-05	0	0	0	0	0.0002	1.169e-05	1.656e-05	0.0003	1.97e-05	1.969e-05	0	4.03e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.133	0.26409	T	0.116	0.36630	T	0.001	0.07471	B	0.002	0.06944	B	0.003203	0.35270	N	0.310501	0.960736	0.26135	N	0.205	0.09354	N	2.64	0.36146	T	-0.96	0.28497	N	0.218	0.24385	-1.0508	0.14175	T	0.065	0.26702	T	10	0.061063856	0.07599	T	0.005586	0.14409	T	0.067	0.19503	0.333	0.32005	0.291402777868	0.28757	.	.	0.143024331251	0.16135	0.680163741112	0.64292	T	0.105163	0.41539	T	-0.356875	0.04309	T	-0.450079	0.27687	T	0.129561319947243	0.15341	T	0.638236	0.31478	T	0.08060779	0.18479	0.08412632	0.19328	0.08060779	0.18478	0.08412632	0.19328	-5.658	0.43318	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	3.753415	0.53817	23.4	0.99347091834921519	0.60412	0.89576	0.50129	D	AEFBCI	0.415971	0.48461	N	-0.150925540751487	0.35195	2.018508	0.025547066873449	0.40903	2.448705	0.655112332021205	0.22208	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.28	4.19	0.48645	2.169000	0.42061	6.053000	0.53107	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0866:0.0:0.9134	9.526	0.38329	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1258.33	39	chr17	8148751	.	T	C	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.724;DP=765;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.574;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr17	8149597	8149597	C	T	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon6:c.G718A:p.V240I	.	410	1102	10	0	0	10	0.00451671	.	.	.	727565	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0049	0.00259585	0.0043	0.0011	0.0027	0	0.0003	0.0067	0.0045	0.0020	0.0044954	695	154602	rs74795714	0.0057	0.0057	0.0056	0.0057	0.0066	0.0056	0.0055	0.0065	0.0064	0.0008	0.0040	0.0065	0	0.0008	0.0031	0.0066	0.0044	0.0027	0.0042	0.0042	0.0045	0.0039	0.0072	0.0039	0.0038	0.0066	0.0064	0.0007	0	0.0046	0.0032	0	0.0013	0.0102	0.0072	0.0076	0.0019	0.443	0.10412	T	0.241	0.24334	T	0.029	0.19866	B	0.013	0.16460	B	0.253721	0.15456	N	0.670897	1	0.08975	N	0.69	0.16971	N	2.67	0.35960	T	-0.13	0.09460	N	0.114	0.10198	-1.0242	0.22344	T	0.026	0.11131	T	10	0.007104814	0.00162	T	.	.	.	0.019	0.03383	.	.	0.147330786459	0.14319	.	.	0.106249982341	0.12016	0.28054112196	0.07567	T	0.109207	0.42288	T	-0.669413	0.00055	T	-0.730197	0.04318	T	0.00271622591116476	0.00028	T	0.559344	0.28234	T	0.020158	0.00565	0.028824672	0.01156	0.020158	0.00564	0.028824672	0.01156	-6.165	0.47639	T	.	.	0.066	0.05623	B	.;.;.	.;.;.	-0.148903	0.03360	0.597	0.8573706713813477	0.16080	0.09460	0.15211	N	AEFBCI	0.089305	0.18101	N	-1.66099788880046	0.00989	0.0428954	-1.72274035109285	0.01040	0.04668455	0.999934501669828	0.46732	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.55	-8.48	0.00815	-0.237000	0.09007	-3.577000	0.02683	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.676:0.1582:0.1658	11.762	0.51177	306	0.87689	PAS domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1959.33	36	chr17	8149597	.	C	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.468;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-1.697;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1423	18	0	1	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	62.45	85	chr17	8174584	.	G	C	62.45	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.976;DP=1207;ExcessHet=0.119;FS=169.085;InbreedingCoeff=-0.3331;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.292;SOR=7.053	GT:AD:DP:GQ:PL	./.:58,0:58:0:0,0,996	2	0	2	15
chr17	8253978	8253978	A	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon2:c.A41T:p.H14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0127082263606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217618336	6.841e-07	6.841e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.04832	T	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.000091	0.51296	D	0.173882	0.934431	0.81001	D	1.725	0.44537	L	1.33	0.35031	T	0.37	0.03639	N	0.679	0.68603	-1.0806	0.07233	T	0.070	0.28609	T	10	0.15169638	0.28669	T	0.012708	0.31519	T	0.287	0.60574	0.325	0.30711	0.731822560003	0.72943	0.5112893701137099	0.51050	0.280962310309	0.30564	0.491495013237	0.37645	T	0.004119	0.24475	T	-0.0556336	0.43588	T	-0.234825	0.51303	T	0.0707808019031172	0.08760	T	0.755524	0.37862	T	0.048120975	0.08337	0.04632627	0.06431	0.048120975	0.08336	0.04632627	0.06431	-1.172	0.01212	T	.	.	0.184	0.39932	B	.;.;.;.;.	.;.;.;.;.	2.109655	0.26843	17.26	0.89693887715099574	0.19018	0.83258	0.42390	D	ALL	0.372952	0.45841	N	-0.335597505391465	0.27804	1.528487	-0.158413030838764	0.33086	1.888946	0.980285991110991	0.30119	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636	0.56748	0	.	.	5.49	4.41	0.52588	2.445000	0.44558	6.823000	0.56675	-0.056000	0.16711	0.983000	0.35670	1.000000	0.68203	0.921000	0.45669	0.8437:0.1563:0.0:0.0	11.01	0.46872	481	0.77356	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3031.33	36	chr17	8253978	.	A	T	3031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=882;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.228;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,119:242:99:0|1:8253978_A_T:3045,0,2911:8253978	18	0	1	0
chr17	8268959	8268959	G	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon28:c.G3712T:p.V1238L	.	411	1089	21	1	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0120835770714	0.0009	0.000599042	0.0018	0	0.0019	0	0	0.0011	0.0011	0.0072	0.0014683	227	154602	rs145272400	0.0010	0.0010	0.0008	0.0012	0.0113	0.0009	0.0009	0.0091	0.0083	0.0002	0.0018	0.0096	0	0	0.0113	0.0003	0.0016	0.0070	0.0007	0.0007	0.0005	0.0008	0.0039	0.0006	0.0005	0.0026	0.0021	7.214e-05	0	0.0006	0.0095	0	0	0.0102	0.0004	0.0033	0.0039	0.577	0.06049	T	0.617	0.07518	T	0.001	0.07471	B	0.002	0.06944	B	0.000001	0.62929	D	0.093571	1	0.81001	D	0.345	0.11182	N	2.31	0.16794	T	0.08	0.06026	N	0.202	0.22357	-1.1026	0.03790	T	0.050	0.21339	T	10	0.007105112	0.00162	T	0.012084	0.30328	T	0.091	0.26358	0.637	0.77361	0.667579167303	0.66477	0.5864208428682829	0.58572	0.224318780374	0.24958	0.464102327824	0.33872	T	0.089594	0.38406	T	-0.566955	0.00231	T	-0.583861	0.14202	T	0.00370669600934679	0.00039	T	0.934707	0.75503	D	0.06463443	0.13734	0.069156714	0.14534	0.06463443	0.13733	0.069156714	0.14534	-3.489	0.16278	T	.	.	0.122	0.25429	B	.	.	1.351416	0.17589	13.25	0.60401719347904825	0.06454	0.89276	0.49643	D	AEFDBI	0.384551	0.46563	N	-0.540449663992957	0.20784	1.098247	-0.389717537221014	0.25301	1.39064	0.31468514665544	0.19323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.34	0.51267	2.611000	0.45998	8.102000	0.76560	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.9143:0.0:0.0857:0.0	9.448	0.37873	507	0.75469	Glutamine amidotransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2080.33	36	chr17	8268959	.	G	T	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.64;SOR=0.718	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr17	8797460	8797460	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1661T:p.S554L	.	423	1078	19	2	0	23	0.0105553	.	.	.	1222401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.776	.	0.0027	0.0353435	0.0166	0.0013	0.0014	0.0853	0.0003	0.0030	0.0167	0.0643	0.0151874	2348	154602	rs74899363	0.0093	0.0093	0.0076	0.0110	0.0960	0.0092	0.0091	0.0935	0.0925	0.0008	0.0013	0.0119	0.0960	0.0001	0.0055	0.0028	0.0120	0.0642	0.0074	0.0074	0.0062	0.0086	0.0910	0.0070	0.0069	0.0842	0.0816	0.0010	0	0.0024	0.0133	0.0910	0	0.0034	0.0027	0.0057	0.0684	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	D	0.000000	8.77062e-07	0.58761	P	2.865	0.83145	M	-3.67	0.95247	D	-3.46	0.67705	D	0.206	0.22870	-0.4002	0.72020	T	0.210	0.56973	T	9	0.008387089	0.00190	T	.	.	.	0.776	0.92501	.	.	.	.	0.33468370261142605	0.33381	0.433029098723	0.43471	0.449397563934	0.31862	T	0.193194	0.54858	T	-0.114371	0.34047	T	0.14979	0.80171	D	0.0235531200911232	0.01090	T	0.69643	0.30590	T	0.6479231	0.75253	0.55815005	0.74439	0.6479231	0.75254	0.55815005	0.74440	-8.647	0.65398	D	.	.	0.176	0.38516	B	.	.	4.447680	0.69110	25.3	0.99906706232731657	0.97726	0.96231	0.68139	D	AEFDBCI	0.896745	0.83813	D	0.680308490086659	0.78343	6.852232	0.612556857862348	0.75850	6.384225	0.999994391301051	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.876000	0.92010	6.301000	0.55413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.306	0.87082	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.001359	0.005848	0.000000	0.025862	0.015244	0.045455	0.02632	1571.33	46	chr17	8797460	.	G	A	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=833;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.04;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	0	1	0
chr17	8797829	8797829	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1292T:p.T431M	.	425	1073	24	0	0	24	0.0110599	.	.	.	2814936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.0118119177933	0.0017	0.000599042	0.0022	0.0003	0.0010	0.0002	0.0015	0.0025	0.0033	0.0044	0.0020892	323	154602	rs143053789	0.0027	0.0027	0.0027	0.0028	0.0049	0.0026	0.0026	0.0042	0.0041	0.0005	0.0014	0	0.0001	0.0015	0.0049	0.0029	0.0020	0.0046	0.0015	0.0015	0.0016	0.0015	0.0025	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0020	0	0	0.0014	0	0.0024	0.0009	0.0025	0.123	0.27544	T	0.128	0.34959	T	0.002	0.09854	B	0.0	0.01387	B	0.888400	0.07280	N	1.070780	1	0.08975	N	-0.69	0.01958	N	-2.27	0.87433	D	0.34	0.03824	N	0.055	0.02658	-0.8222	0.53796	T	0.292	0.66326	T	10	0.007179916	0.00163	T	0.011812	0.29802	T	0.215	0.50805	.	.	0.0954503805726	0.09146	0.15639737675013668	0.15560	0.116721941185	0.13163	0.235561966896	0.02405	T	0.002077	0.01480	T	-0.489098	0.00657	T	-0.475613	0.24913	T	0.00118356059145533	0.00012	T	0.328667	0.06851	T	0.016269209	0.00186	0.034068596	0.02410	0.016269209	0.00186	0.034068596	0.02409	-4.912	0.35870	T	.	.	0.076	0.05756	B	.	.	0.035969	0.04534	1.230	0.84881006772657974	0.15553	0.03629	0.08871	N	AEFBCI	0.055111	0.10079	N	-1.55019479601857	0.01533	0.06696851	-1.51936100233075	0.02195	0.1006067	0.158898627610919	0.17561	0.614807	0.35715	0	0.577304	0.33150	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.9	-1.21	0.09033	0.174000	0.16557	0.182000	0.15643	-1.449000	0.01096	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3713:0.0:0.4897:0.1391	7.017	0.24074	803	0.44167	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.015152	0.05263	6926.83	46	chr17	8797829	.	G	A	6926.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=1652;ExcessHet=0.119;FS=1.102;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.39;SOR=0.769	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	17	0	2	0
chr17	8797926	8797926	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1195A:p.G399S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00561956116928	0.0027	0.00299521	0.0034	0.0021	0.0012	0.0031	0.0011	0.0031	0.0033	0.0079	0.0031694	490	154602	rs138080986	0.0035	0.0035	0.0032	0.0037	0.0106	0.0034	0.0034	0.0085	0.0081	0.0024	0.0019	0.0001	0.0081	0.0007	0.0106	0.0032	0.0033	0.0088	0.0028	0.0028	0.0028	0.0028	0.0067	0.0026	0.0025	0.0049	0.0042	0.0019	0	0.0035	0	0.0050	0.0009	0.0103	0.0031	0.0047	0.0067	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.091935	0.20300	N	0.522168	0.997606	0.22589	N	-2.035	0.00180	N	-1.05	0.76690	T	2.3	0.00290	N	0.077	0.05162	-0.9137	0.46390	T	0.058	0.24279	T	10	0.0037046075	0.00068	T	0.00562	0.14530	T	0.093	0.26882	.	.	0.0716867268079	0.06686	0.08918031029610947	0.08851	0.111762492413	0.12611	0.29768538475	0.10056	T	0.002332	0.01729	T	-0.51422	0.00475	T	-0.505727	0.21754	T	0.00011221515064836	0.00001	T	0.572743	0.20478	T	0.031209076	0.02920	0.046836205	0.06615	0.031209076	0.02919	0.046836205	0.06615	-0.666	0.00695	T	.	.	0.052	0.00207	B	.	.	0.820028	0.11909	8.475	0.83042996265959756	0.14511	0.13705	0.18006	N	AEFBCI	0.072097	0.14377	N	-1.55569078752474	0.01502	0.06556224	-1.37378368282263	0.03534	0.1650236	0.122144839200761	0.16907	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.4	0.306	0.15053	1.627000	0.36661	-0.355000	0.09716	-0.167000	0.11441	0.982000	0.35529	0.010000	0.20010	0.691000	0.33868	0.0:0.2986:0.136:0.5655	5.590	0.16579	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.02632	3224.33	46	chr17	8797926	.	C	T	3224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=1521;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.133;SOR=0.671	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr17	8797997	8797997	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1124T:p.T375I	.	428	1069	24	1	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0204920011081	0.0028	0.00179712	0.0031	0.0021	0.0012	0.0001	0.0011	0.0031	0.0033	0.0076	0.0029236	452	154602	rs111767864	0.0032	0.0032	0.0029	0.0034	0.0106	0.0031	0.0031	0.0085	0.0079	0.0024	0.0019	0.0001	2.519e-05	0.0007	0.0106	0.0031	0.0032	0.0086	0.0026	0.0026	0.0027	0.0025	0.0062	0.0024	0.0023	0.0045	0.0039	0.0020	0	0.0035	0	0.0002	0.0009	0.0103	0.0030	0.0047	0.0062	0.078	0.33923	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.005984	0.32354	N	0.239860	1	0.08975	N	-0.345	0.03330	N	-2.02	0.85542	D	0.66	0.02297	N	0.1	0.08227	-0.8602	0.51249	T	0.250	0.61912	T	10	0.008372992	0.00190	T	0.020492	0.43095	T	0.180	0.45073	.	.	0.12205267543	0.11705	0.19717208777668382	0.19634	0.121136093856	0.13646	0.263680249453	0.05336	T	0.002572	0.01964	T	-0.408257	0.02042	T	-0.3538	0.38770	T	0.00563107565943834	0.00061	T	0.309269	0.05988	T	0.037358418	0.04774	0.04124991	0.04644	0.037358418	0.04773	0.04124991	0.04643	-2.543	0.06082	T	.	.	0.083	0.09336	B	.	.	0.772079	0.11419	8.030	0.92407789139020891	0.21822	0.02169	0.06362	N	AEFDBCI	0.040116	0.05921	N	-1.12414462355394	0.06216	0.2855444	-1.035878896473	0.09003	0.4455951	0.980862851411514	0.30187	0.615465	0.37627	0	0.552637	0.17590	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.12	4.05	0.46415	2.458000	0.44671	3.742000	0.39654	-0.040000	0.17491	0.094000	0.22667	0.992000	0.31684	0.001000	0.02609	0.8417:0.0:0.1583:0.0	8.665	0.33280	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.02632	2905.33	46	chr17	8797997	.	G	A	2905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=1535;ExcessHet=0;FS=3.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.893;SOR=0.497	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr17	8798496	8798496	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G625A:p.A209T	.	429	1068	24	1	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00876814844764	0.0025	0.00119808	0.0026	0.0021	0.0012	0	0.0011	0.0025	0.0023	0.0067	0.002348	363	154602	rs144238966	0.0024	0.0024	0.0022	0.0026	0.0096	0.0024	0.0023	0.0076	0.0068	0.0020	0.0019	0.0001	0	0.0006	0.0096	0.0023	0.0025	0.0071	0.0021	0.0021	0.0022	0.0020	0.0043	0.0019	0.0018	0.0029	0.0025	0.0019	0	0.0035	0	0	0.0009	0.0136	0.0021	0.0043	0.0043	0.595	0.05720	T	0.624	0.07342	T	0.094	0.25382	B	0.062	0.26930	B	0.469240	0.04916	N	1.320320	1	0.08975	N	0.75	0.19020	N	0.79	0.49068	T	-0.5	0.15782	N	0.028	0.00618	-1.0516	0.13954	T	0.071	0.29066	T	10	0.0038802028	0.00073	T	0.008768	0.23147	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.30546399118235157	0.30459	0.118892422166	0.13393	0.219524219632	0.01283	T	5.27E-4	0.00201	T	-0.676591	0.00050	T	-0.741485	0.03829	T	0.00150702798559193	0.00015	T	0.374863	0.08927	T	0.048184883	0.08357	0.051021103	0.08128	0.048184883	0.08356	0.051021103	0.08128	-2.745	0.07689	T	.	.	0.071	0.03849	B	.	.	-0.381365	0.02283	0.238	0.66048443197865359	0.07946	0.07869	0.13860	N	AEFDBCI	0.091390	0.18511	N	-1.10575227081603	0.06540	0.3013409	-1.17609213568694	0.06311	0.3033808	0.997959651820398	0.36237	0.652421	0.48094	0	0.552637	0.17590	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.86	-2.6	0.05830	-1.340000	0.02756	-1.097000	0.06340	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1283:0.3697:0.252:0.25	1.641	0.02586	808	0.43318	Major facilitator superfamily associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.008152	0.011696	0.050000	0.017241	0.012195	0.003788	0.02632	2604.33	46	chr17	8798496	.	C	T	2604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.666;DP=922;ExcessHet=0;FS=0.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.527;SOR=0.633	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr17	8827251	8827251	G	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon13:c.C1436T:p.T479M,PIK3R6:NM_001290211:exon13:c.C1028T:p.T343M	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116100964927	.	0.000798722	0.0013	0	0.0004	0	0	4.204e-05	0	0.0062	0.0005239	81	154602	rs562238482	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0.0005	1.825e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	.	.	.	0.014	0.62352	D	0.98	0.59353	D	0.595	0.50587	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.39356	.	.	.	.	.	.	.	0.01156956	0.00252	T	0.01161	0.29407	T	.	.	.	.	0.432493127443	0.42867	0.33692688018618877	0.33605	.	.	0.330841034651	0.15061	T	0.265452	0.63731	T	-0.339382	0.05431	T	-0.258079	0.49015	T	.	.	.	0.79532	0.43818	T	0.10455087	0.24716	0.34483284	0.60174	0.10455087	0.24716	0.34483284	0.60174	-7.587	0.58220	D	.	.	0.090	0.12512	B	.;.	.;.	2.859334	0.37778	20.6	0.91961366668729405	0.21290	0.18894	0.20445	N	AEFDBHCI	0.161413	0.28747	N	.	.	.	.	.	.	0.887043051292394	0.25756	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.079188	0.02158	0	.	.	4.6	3.6	0.40374	1.320000	0.33272	4.629000	0.44108	0.671000	0.69459	0.003000	0.16062	0.939000	0.28734	0.266000	0.23669	0.0798:0.0:0.9202:0.0	13.391	0.60272	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1015.33	34	chr17	8827251	.	G	A	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=708;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.736;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1225	18	0	1	0
chr17	8829713	8829713	C	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon10:c.G882T:p.E294D,PIK3R6:NM_001290211:exon10:c.G474T:p.E158D	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129795182418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.10465	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.25745	.	.	.	.	.	.	.	0.04844582	0.04297	T	0.01298	0.32017	T	.	.	.	.	0.536287059136	0.53279	0.1587247091165047	0.15793	.	.	0.566030621529	0.48117	T	0.002785	0.02176	T	-0.112268	0.34394	T	-0.399041	0.33495	T	.	.	.	0.657934	0.26722	T	0.055346467	0.10742	0.106504545	0.25625	0.055346467	0.10742	0.106504545	0.25624	-4.56	0.31665	T	.	.	0.111	0.24700	B	.;.	.;.	0.606388	0.09749	6.516	0.84560987710574265	0.15364	0.54943	0.29740	D	AEFDGBHCI	0.177187	0.30441	N	.	.	.	.	.	.	0.995948116205777	0.34425	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.041896	0.00087	0	.	.	4.73	-2.48	0.06052	-0.868000	0.04345	-1.141000	0.06209	0.599000	0.40250	0.179000	0.24051	0.001000	0.17328	0.955000	0.50612	0.1117:0.2981:0.2197:0.3705	1.717	0.02729	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1701.33	37	chr17	8829713	.	C	A	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.856;DP=783;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.121;SOR=0.507	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1715,0,1522	18	0	1	0
chr17	8888177	8888177	T	C	exonic	PIK3R5	.	nonsynonymous SNV	PIK3R5:NM_001251852:exon9:c.A452G:p.N151S,PIK3R5:NM_001251853:exon9:c.A452G:p.N151S,PIK3R5:NM_001251855:exon9:c.A452G:p.N151S,PIK3R5:NM_001142633:exon10:c.A1610G:p.N537S,PIK3R5:NM_001251851:exon10:c.A452G:p.N151S,PIK3R5:NM_014308:exon10:c.A1610G:p.N537S	Ataxia-oculomotor apraxia 3, Autosomal recessive	424	1051	44	3	0	50	0.0232342	.	.	.	715870	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.206	.	0.0008	0.00499201	0.0041	9.829e-05	0.0006	0	0	0.0011	0.0056	0.0244	0.0034864	539	154602	rs141354792	0.0021	0.0021	0.0013	0.0029	0.0248	0.0021	0.0020	0.0240	0.0236	2.987e-05	0.0008	0.0033	0	3.793e-05	0.0085	0.0006	0.0025	0.0248	0.0014	0.0014	0.0011	0.0017	0.0233	0.0012	0.0012	0.0198	0.0185	7.223e-05	0	0.0010	0.0014	0	0	0.0170	0.0009	0.0043	0.0233	0.757	0.03512	T	0.66	0.08025	T	0.008	0.14655	B	0.014	0.16862	B	0.001828	0.37892	N	0.336110	0.719223	0.29938	N	1.48	0.37141	L	-1.23	0.78860	T	-0.34	0.12661	N	0.137	0.13769	-0.8843	0.49415	T	0.128	0.43666	T	10	0.011410058	0.00249	T	.	.	.	0.206	0.49396	.	.	0.457489361034	0.45375	0.3056649105751712	0.30479	0.379746466743	0.39358	0.264593482018	0.05451	T	0.161401	0.50565	T	-0.478229	0.00758	T	-0.441466	0.28644	T	0.0209420530323681	0.00795	T	0.813419	0.61484	T	0.06834999	0.14883	0.06895789	0.14468	0.07208568	0.16008	0.056036726	0.09939	-2.749	0.07724	T	0.14441162739449145	0.16495	0.079	0.20508	B	.;.;.;.;.;.	.;.;.;.;.;.	1.821389	0.23148	15.90	0.94299559294408519	0.24609	0.89942	0.50743	D	AEFDBI	0.313915	0.41893	N	-0.391004030368227	0.25789	1.402542	-0.175773257198732	0.32430	1.844936	0.109216815697869	0.16602	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	1.446000	0.34701	6.107000	0.53619	-0.113000	0.14837	0.997000	0.40164	1.000000	0.68203	0.201000	0.21925	0.0:0.0:0.0:1.0	15.586	0.76229	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.005435	0.002924	0.000000	0.034483	0.012195	0.022727	0.02632	1419.33	33	chr17	8888177	.	T	C	1419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.14;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	18	0	1	0
chr17	9023287	9023287	A	T	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.A914T:p.D305V	.	428	1091	3	0	0	3	0.001373	.	.	.	2384103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.312623577622	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs745784631	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	3.127e-05	0	0	0	0	0.0007	0.0002	5.163e-05	3.708e-05	3.943e-05	3.94e-05	3.856e-05	4.034e-05	7.35e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.541e-05	0	0	0	0	7.35e-05	0	0	0.045	0.40832	D	0.095	0.39492	T	0.933	0.52105	P	0.949	0.68658	D	0.000004	0.62929	D	0.103113	1	0.81001	D	2.045	0.56016	M	0.07	0.61677	T	-7.02	0.93786	D	0.611	0.62781	-0.4953	0.68819	T	0.343	0.70875	T	10	0.8123008	0.80502	D	0.312624	0.91232	D	0.372	0.69102	0.528	0.63412	0.73970075848	0.73736	0.6203860803154823	0.61971	.	.	0.763052582741	0.76385	T	0.391784	0.75162	T	0.000631771	0.51742	T	-0.0398975	0.67708	D	0.49246523403695	0.32354	T	0.89671	0.63922	D	0.7151916	0.78894	0.65202034	0.79636	0.7151916	0.78896	0.65202034	0.79637	-10.152	0.74817	D	0.2970622627129335	0.39415	0.393	0.59182	A	.	.	5.561218	0.92137	32	0.9932666397944524	0.59622	0.97385	0.74413	D	AEFDBCI	0.797085	0.72403	D	0.619525996225388	0.74412	6.128136	0.610908830359685	0.75730	6.362624	0.999999999954147	0.74766	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.24	5.24	0.72863	7.364000	0.78783	9.315000	0.79993	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.812	0.69627	938	0.14419	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003646	0.000000	0.004132	0.000000	0.000000	0.009259	0.003165	0.007692	0.02632	614.33	35	chr17	9023287	.	A	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=729;ExcessHet=0;FS=4.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.43;SOR=0.328	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1273	18	0	1	0
chr17	9608191	9608191	T	C	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon6:c.T622C:p.C208R,CFAP52:NM_145054:exon7:c.T826C:p.C276R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.27158512124	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779089512	6.852e-07	6.84e-07	0	1.377e-06	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.062	0.45318	T	0.895	0.49247	P	0.474	0.46883	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.58	0.89757	D	-3.7	0.71276	D	0.9	0.90025	0.430	0.89541	D	0.667	0.88460	D	10	0.95042	0.94377	D	0.271585	0.89899	D	0.427	0.73445	0.788	0.91068	0.728798078922	0.72639	0.8626854486684278	0.86232	0.349758134559	0.36824	0.72649949789	0.70995	T	0.226127	0.59106	T	0.391603	0.89423	D	0.324734	0.89290	D	0.986552178859711	0.77243	D	0.692831	0.30243	T	0.7803619	0.82676	0.73778266	0.84502	0.7803619	0.82677	0.73778266	0.84503	-11.076	0.80073	D	.	.	0.795	0.81070	P	.;.	.;.	3.991804	0.58755	24.0	0.9947476764866775	0.66525	0.92524	0.55913	D	AEFI	0.735291	0.68115	D	0.46251674620387	0.64917	4.757327	0.511963535612072	0.68792	5.269485	0.818497642452698	0.24481	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.682000	0.67845	7.743000	0.68032	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.734	0.69020	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1354.33	39	chr17	9608191	.	T	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-2.538;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	18	0	1	0
chr17	9612445	9612445	C	T	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon7:c.C787T:p.H263Y,CFAP52:NM_145054:exon8:c.C991T:p.H331Y	.	432	1088	2	0	0	2	0.000918274	.	.	.	2207030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.579	0.239239532111	7.7e-05	0.000199681	3.296e-05	0	0	0	0	4.497e-05	0	6.057e-05	3.88e-05	6	154602	rs200953170	2.531e-05	2.531e-05	1.634e-05	3.438e-05	0.0005	1.868e-05	1.631e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	2.068e-05	8.279e-05	6.957e-05	4.596e-05	4.593e-05	3.854e-05	5.371e-05	0.0002	2.108e-05	1.526e-05	1.171e-05	6.25e-06	2.405e-05	0	0	0	0	0	0	4.41e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-2.82	0.91192	D	-5.78	0.88224	D	0.939	0.94550	0.957	0.96501	D	0.876	0.95874	D	10	0.91078806	0.90443	D	0.23924	0.88622	D	0.579	0.83024	.	.	0.454893017966	0.45111	0.8187856217069842	0.81835	0.383503995499	0.39674	0.562497854233	0.47619	T	0.249613	0.61959	T	0.348791	0.86424	D	0.393688	0.91905	D	0.94905424118042	0.63029	D	0.893011	0.63001	D	0.7115441	0.78692	0.6586047	0.80003	0.7115441	0.78694	0.6586047	0.80004	-11.247	0.85450	D	.	.	0.813	0.77969	P	.;.	.;.	3.247205	0.44348	21.9	0.99742998238932989	0.83629	0.92203	0.55175	D	AEFI	0.695108	0.65389	D	0.673188595296446	0.77878	6.759894	0.594708156915021	0.74558	6.157755	0.997292016564865	0.35467	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.055000	0.70726	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:1.0:0.0:0.0	18.233	0.89876	917	0.20147	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1044.33	33	chr17	9612445	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.338;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.276;SOR=0.659	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr17	9693133	9693133	G	A	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon9:c.G1360A:p.G454R,USP43:NM_153210:exon9:c.G1360A:p.G454R	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.00682023582181	0.0011	0.000599042	0.0011	0	0.0003	0	0.0006	0.0012	0.0012	0.0023	0.0009185	142	154602	rs201227639	0.0009	0.0009	0.0008	0.0009	0.0028	0.0008	0.0008	0.0017	0.0014	0.0001	0.0005	0.0004	0	0.0004	0.0028	0.0009	0.0009	0.0016	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0006	0.0010	0.0009	7.228e-05	0	0.0005	0.0006	0	0.0004	0.0034	0.0012	0.0014	0.0017	0.151	0.24564	T	0.441	0.13328	T	0.382	0.34403	B	0.444	0.45865	B	0.335304	0.14048	N	0.670897	0.997029	0.43577	D	1.385	0.34509	L	2.75	0.11622	T	-2.6	0.55983	D	0.454	0.49146	-1.0351	0.18825	T	0.031	0.13504	T	10	0.029360205	0.01063	T	0.00682	0.18037	T	0.232	0.53354	0.704	0.84054	0.598687526909	0.59549	0.6432204660266789	0.64257	0.839396152264	0.67972	0.520281732082	0.41666	T	0.038584	0.24892	T	-0.410399	0.01975	T	-0.386914	0.34914	T	0.0875602695979631	0.10926	T	0.779722	0.42343	T	0.15246356	0.34608	0.1786382	0.40546	0.15246356	0.34608	0.1786382	0.40545	-6.648	0.51418	T	.	.	0.147	0.39168	B	.;.	.;.	2.858650	0.37761	20.6	0.99774563187540444	0.86174	0.96289	0.68414	D	AEFBI	0.520107	0.54510	D	0.0761275046043339	0.45351	2.793065	0.105727027098134	0.44840	2.758127	0.982906525757193	0.30474	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	6.498000	0.73585	6.308000	0.55424	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.156000	0.20513	0.0:0.0:1.0:0.0	14.033	0.64147	957	0.09725	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1345.33	33	chr17	9693133	.	G	A	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=723;ExcessHet=0;FS=3.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-2.248;SOR=0.993	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	9791164	9791164	C	T	exonic	DHRS7C	.	nonsynonymous SNV	DHRS7C:NM_001105571:exon1:c.G121A:p.V41M,DHRS7C:NM_001220493:exon1:c.G121A:p.V41M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0440347173007	.	0.000199681	0.0002	0	0	0	0	1.603e-05	0	0.0014	0.0001423	22	154602	rs532103187	8.554e-05	8.551e-05	4.493e-05	0.0001	0.0014	7.315e-05	6.818e-05	0.0012	0.0011	0	0	0	2.519e-05	0	0	1.799e-06	8.283e-05	0.0014	4.595e-05	4.593e-05	1.285e-05	8.055e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.087	0.32453	T	0.153	0.32249	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.035	0.55589	M	-2.43	0.88689	D	-1.5	0.36586	N	0.795	0.79118	0.574	0.91550	D	0.784	0.92673	D	10	0.23598409	0.40671	T	0.044035	0.61287	D	0.634	0.85975	0.494	0.58206	0.827483548525	0.82585	0.8157389455843908	0.81529	0.777774367674	0.65122	0.731531977654	0.71729	T	0.226973	0.59214	T	0.0224366	0.54710	T	0.224074	0.84378	D	0.134481263078861	0.15790	T	0.970603	0.89432	D	0.38933438	0.59985	0.34190708	0.59924	0.38933438	0.59985	0.34190708	0.59923	-6.118	0.47256	T	.	.	0.373	0.57999	A	.;.	.;.	4.384018	0.67603	25.1	0.99901025109908115	0.97275	0.94945	0.62878	D	AEFBI	0.790131	0.71911	D	0.784659733985512	0.85137	8.487272	0.80006294093229	0.89797	10.12554	0.99999222370619	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	6.540000	0.73764	7.657000	0.64017	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.230	0.93820	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1515.33	33	chr17	9791164	.	C	T	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.097;DP=751;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.249;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	18	0	1	0
chr17	9857511	9857511	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon6:c.G700A:p.V234I	.	427	1072	21	2	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0047	0.00419329	0.0080	0.0004	0.0010	0	0.0187	0.0071	0.0088	0.0210	0.0072121	1115	154602	rs61730822	0.0053	0.0053	0.0047	0.0060	0.0205	0.0052	0.0052	0.0197	0.0194	0.0005	0.0011	0.0064	5.038e-05	0.0172	0.0057	0.0041	0.0039	0.0205	0.0051	0.0051	0.0045	0.0057	0.0193	0.0048	0.0047	0.0161	0.0149	0.0006	0	0.0012	0.0037	0.0002	0.0175	0	0.0064	0.0033	0.0193	0.371	0.11514	T	0.56	0.22627	T	0.028	0.19712	B	0.021	0.19346	B	0.190017	0.16872	N	0.434889	1	0.08975	N	0.61	0.15665	N	1.15	0.45248	T	0.27	0.04306	N	0.063	0.05670	-1.0347	0.18951	T	0.039	0.16763	T	10	0.0036627948	0.00067	T	.	.	.	0.060	0.17295	.	.	0.476364732183	0.47263	0.0847454450444423	0.08408	0.238286903455	0.26374	0.291410237551	0.09127	T	0.040885	0.25675	T	-0.644047	0.00079	T	-0.681649	0.06884	T	0.000678992996314219	0.00006	T	0.686031	0.51512	T	0.022864567	0.00981	0.034941487	0.02653	0.022864567	0.00981	0.034941487	0.02653	-5.195	0.38891	T	.	.	0.070	0.06710	B	.;.;.	.;.;.	0.655718	0.10239	6.978	0.86854329371311922	0.16818	0.04631	0.10296	N	AEFGBI	0.068523	0.13520	N	-0.847650686937809	0.12108	0.588198	-0.814886138503196	0.14135	0.7370068	5.87251080179806E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	0.641	0.16930	-0.097000	0.11010	0.155000	0.15338	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2648:0.0:0.7352:0.0	11.531	0.49862	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.004076	0.014620	0.000000	0.008621	0.015244	0.018939	0.05263	4276.83	35	chr17	9857511	.	G	A	4276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=939;ExcessHet=0.119;FS=0.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.475;SOR=0.731	GT:AD:DP:GQ:PL	0/1:64,105:169:99:2519,0,1301	17	0	2	0
chr17	10306941	10306941	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon36:c.G5293A:p.D1765N	.	.	.	.	.	.	.	.	0.8609	0.798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.0797277519347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.022	0.57587	D	0.998	0.73220	D	0.981	0.75168	D	.	.	.	.	0.999765	0.48888	D	3.84	0.95699	H	-1.54	0.81640	D	-3.5	0.68178	D	0.65	0.71321	0.811	0.94553	D	0.763	0.91922	D	9	0.81573963	0.80815	D	0.079728	0.73301	D	0.658	0.87184	0.609	0.74182	0.890167322426	0.88908	0.8197152491594643	0.81928	0.201842738784	0.22596	0.832908153534	0.87009	D	0.483442	0.81116	T	0.0208395	0.54496	T	-0.207842	0.53901	T	0.992041051387787	0.82435	D	0.926607	0.72946	D	0.47615838	0.65667	0.5082755	0.71582	0.47615838	0.65667	0.5082755	0.71583	-11.618	0.82941	D	.	.	0.320	0.54492	B	.;.;.	.;.;.	5.658447	0.92858	33	0.99918735509507872	0.98586	0.99491	0.96677	D	AEFBI	0.949829	0.96286	D	0.888373815946526	0.91179	10.75388	0.76688893553862	0.87413	9.213461	0.999967380440937	0.48965	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.21	4.21	0.48984	7.866000	0.85474	7.651000	0.63703	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.113	0.86558	89	0.96298	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	33	chr17	10306941	.	C	T	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.018;DP=690;ExcessHet=0;FS=3.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-1.398;SOR=0.346	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1140	18	0	1	0
chr17	10313279	10313279	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon30:c.G4060A:p.E1354K	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.848	0.0322051465479	.	.	7.413e-05	0	0	0	0	4.495e-05	0	0.0004	5.82e-05	9	154602	rs746836223	2.805e-05	2.805e-05	2.042e-05	3.575e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	9.892e-06	6.623e-05	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.469e-05	0	0.0002	0.0	0.91255	D	0.075	0.42794	T	0.981	0.59675	D	0.971	0.72444	D	.	.	.	.	0.999509	0.47320	D	4.02	0.96873	H	-1.71	0.83157	D	-3.08	0.63323	D	0.821	0.82964	0.968	0.96668	D	0.824	0.94079	D	9	0.8111639	0.80399	D	0.032205	0.54095	D	0.848	0.95286	0.62	0.75461	0.859733259503	0.85837	0.6350089358865529	0.63434	0.180838039361	0.20341	0.768532514572	0.77205	T	0.452876	0.79304	T	0.0187746	0.54216	T	0.105348	0.77262	D	0.92970085144043	0.59393	D	0.935106	0.75644	D	0.62325096	0.73937	0.6987056	0.82252	0.62325096	0.73939	0.6987056	0.82253	-11.784	0.83782	D	.	.	0.782	0.76483	P	.;.;.	.;.;.	4.491201	0.70161	25.5	0.99934983432340951	0.99579	0.90402	0.51549	D	AEFDBHCI	0.907938	0.86260	D	0.896050852636823	0.91565	10.94814	0.751214365198769	0.86247	8.828762	0.999999874366067	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	7.785000	0.84334	5.839000	0.50231	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:1.0:0.0:0.0	16.550	0.84320	87	0.96348	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2726.33	40	chr17	10313279	.	C	T	2726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=1335;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.971;QD=13.11;ReadPosRankSum=1.07;SOR=0.85	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	18	0	1	0
chr17	10354744	10354744	A	C	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon11:c.T941G:p.F314C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.0636327057247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.997	0.70673	D	0.981	0.75168	D	.	.	.	.	0.999998	0.08975	N	2.04	0.55661	M	-2.49	0.89145	D	-4.5	0.78135	D	0.795	0.79214	0.208	0.86037	D	0.837	0.94536	D	9	0.87830085	0.87130	D	0.063633	0.69028	D	0.551	0.81427	0.768	0.89530	0.754549913472	0.75232	0.5107117578441809	0.50993	0.541142718122	0.51279	0.674191236496	0.63436	T	0.692214	0.91061	D	0.213	0.75143	D	0.0686144	0.74818	D	0.980490505695343	0.73390	D	0.967003	0.87984	D	0.36040807	0.57867	0.4346703	0.66979	0.36040807	0.57867	0.4346703	0.66979	-13.068	0.89641	D	.	.	0.254	0.53686	B	.;.;.	.;.;.	4.634290	0.73709	26.0	0.99083201784381481	0.52027	0.15523	0.18954	N	AEFBI	0.280110	0.39400	N	0.381702587767209	0.60429	4.231886	0.180384309799047	0.48771	3.08879	4.67964348856194E-4	0.07066	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.55	3.55	0.39770	1.266000	0.32641	11.171000	0.87970	0.756000	0.94297	0.021000	0.19753	1.000000	0.68203	0.954000	0.50415	0.6927:0.0:0.0:0.3073	7.830	0.28500	65	0.97253	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2083.33	34	chr17	10354744	.	A	C	2083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.341;DP=778;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.392;SOR=0.514	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr17	10448639	10448639	G	A	exonic	MYH4	.	stopgain	MYH4:NM_017533:exon32:c.C4510T:p.R1504X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1025892606	8.21e-06	8.209e-06	4.084e-06	1.238e-05	6.957e-05	4.38e-06	3.46e-06	2.995e-05	2.038e-05	2.987e-05	0	0	0	0	0	4.497e-06	0	6.957e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005051	0.33144	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.3	0.33904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441293	0.92081	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.229081	0.97321	37	0.99547843788230272	0.70961	0.76099	0.37298	D	AEFBI	0.395326	0.47223	N	0.382762619406483	0.60488	4.238234	0.1773000882794	0.48606	3.074264	0.00203988232986488	0.09104	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	0.396	0.15532	-0.187000	0.09652	-1.713000	0.04864	0.676000	0.76740	0.708000	0.28703	0.000000	0.08366	0.999000	0.91618	0.0:0.0:0.2437:0.7563	16.622	0.84787	87	0.96348	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2226.33	35	chr17	10448639	.	G	A	2226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=834;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.621;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr17	10448672	10448672	C	-	exonic	MYH4	.	frameshift deletion	MYH4:NM_017533:exon32:c.4477delG:p.E1493Rfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0005	0	0	0.0011	0.0007	0.00011	17	154602	rs773763976	6.978e-05	6.977e-05	5.581e-05	8.388e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	0	0.0005	0	0	0	0.0003	0.0007	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2370.29	35	chr17	10448671	.	TC	T	2370.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=809;ExcessHet=0;FS=1.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.292;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr17	10451358	10451358	G	A	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.C3833T:p.S1278L	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0250080218731	0.0003	0.000998403	0.0009	0.0002	0.0002	0	0	0.0005	0.0044	0.0043	0.0007762	120	154602	rs145453135	0.0007	0.0007	0.0005	0.0008	0.0042	0.0006	0.0006	0.0039	0.0037	5.974e-05	8.949e-05	7.663e-05	2.52e-05	0	0.0031	0.0005	0.0008	0.0042	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0034	9.623e-05	0	0	0	0	9.416e-05	0.0034	0.0006	0.0005	0.0056	0.002	0.72154	D	0.132	0.34477	T	0.019	0.17989	B	0.032	0.22131	B	0.651406	0.10509	U	0.725538	0.999973	0.18612	N	2.295	0.65404	M	-1.17	0.78199	T	-2.56	0.55339	D	0.381	0.42247	-0.5019	0.68582	T	0.448	0.78348	T	10	0.008505881	0.00193	T	0.025008	0.47992	D	0.346	0.66769	.	.	0.796884379247	0.79499	0.15152543263563856	0.15074	0.16406042918	0.18510	0.474094808102	0.35243	T	0.469485	0.80300	T	-0.373122	0.03439	T	-0.308885	0.43778	T	0.0573092977570532	0.06739	T	0.89801	0.64352	D	0.19731736	0.41592	0.31166255	0.57172	0.19731736	0.41592	0.31166255	0.57171	-7.558	0.58017	D	.	.	0.088	0.11797	B	.	.	4.014388	0.59245	24.1	0.99807052912013572	0.89085	0.22646	0.21816	N	AEFI	0.209701	0.33565	N	-0.161371435633514	0.34751	1.987468	-0.0952495380354962	0.35586	2.060597	1.66813247063777E-4	0.05721	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	-0.109000	0.10810	8.601000	0.77727	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7495:0.2505	13.971	0.63755	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2847.81	33	chr17	10451358	.	G	A	2847.81	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.62;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1350	18	1	0	0
chr17	10460243	10460243	A	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon13:c.T1226A:p.V409D	.	2	1503	17	0	0	17	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913	0.100397731126	.	0.000998403	0.0007	0	0.0003	0.0001	0	0.0002	0	0.0039	0.0006468	100	154602	rs142060534	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0037	0.0033	2.987e-05	0.0005	0	5.038e-05	0	0.0052	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0040	0.0034	4.812e-05	0	0.0001	0	0	0	0.0034	0.0002	0	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.004526	0.33648	U	0.000000	1	0.81001	D	3.22	0.89398	M	-2.37	0.88220	D	-5.81	0.88224	D	0.905	0.90590	1.052	0.98161	D	0.894	0.96478	D	10	0.12687308	0.24123	T	0.100398	0.77265	D	0.913	0.97700	0.86	0.95774	0.988864112231	0.98873	0.7519259962234865	0.75139	0.89452390681	0.70386	0.81251937151	0.83878	D	0.842181	0.96329	D	0.134241	0.67772	D	0.417946	0.92677	D	0.143717803468275	0.16591	T	0.980002	0.93225	D	0.7806963	0.82696	0.8324899	0.90347	0.7806963	0.82698	0.8324899	0.90348	-15.54	0.96988	D	.	.	0.999	0.98051	P	.	.	4.819828	0.78497	26.9	0.98655102163559216	0.44247	0.96378	0.68846	D	ALL	0.922753	0.89818	D	1.03534693194306	0.96731	15.06908	0.930012989068574	0.96754	15.09935	0.999999999396776	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	9.265000	0.94799	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	16.012	0.80209	105	0.95676	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2300.33	35	chr17	10460243	.	A	T	2300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.87;DP=889;ExcessHet=0;FS=2.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.208;SOR=0.496	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1483	18	0	1	0
chr17	10501336	10501336	C	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon27:c.G3512A:p.R1171Q	.	21	1492	9	0	0	9	0.00300702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	.	0.0080	0.00239617	0.0082	0.0014	0.0016	0	0.0269	0.0111	0.0132	0.0020	0.0077295	1195	154602	rs144827751	0.0095	0.0095	0.0095	0.0094	0.0103	0.0093	0.0093	0.0102	0.0101	0.0011	0.0022	0.0011	5.038e-05	0.0280	0.0047	0.0103	0.0075	0.0020	0.0078	0.0078	0.0072	0.0084	0.0105	0.0074	0.0072	0.0099	0.0096	0.0020	0	0.0024	0.0006	0	0.0309	0.0034	0.0105	0.0052	0.0014	0.09	0.31987	T	0.079	0.42086	T	0.999	0.77913	D	0.982	0.75477	D	0.001234	0.39743	U	0.000000	0.999998	0.58761	D	3.215	0.89331	M	-1.93	0.84842	D	-2.61	0.56144	D	0.888	0.88687	0.536	0.91042	D	0.743	0.91216	D	10	0.013422966	0.00285	T	.	.	.	0.571	0.82573	.	.	0.853884769292	0.85247	0.316011336646075	0.31514	0.523238484671	0.50038	0.771450281143	0.77642	T	0.581295	0.86293	D	-0.264681	0.12357	T	-0.142585	0.59893	T	0.034736927235383	0.02762	T	0.917708	0.70434	D	0.21808186	0.44307	0.21202436	0.45655	0.21808186	0.44307	0.21202436	0.45654	-12.44	0.86928	D	.	.	0.346	0.56337	A	.	.	4.887868	0.80225	27.3	0.99957647107245373	0.99986	0.98720	0.85993	D	AEFBI	0.709825	0.66379	D	0.883286889249112	0.90918	10.62737	0.832912935260931	0.91980	11.171	0.999999993069628	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	5.956000	0.70034	4.610000	0.44033	0.599000	0.40250	1.000000	0.71638	0.435000	0.24875	0.997000	0.79791	0.0:1.0:0.0:0.0	19.787	0.96438	172	0.93355	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007400	0.000000	0.005435	0.000000	0.000000	0.008621	0.018293	0.018939	0.02632	2070.33	34	chr17	10501336	.	C	T	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=771;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.36;MQRankSum=1.85;QD=14.38;ReadPosRankSum=1.84;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	18	0	1	0
chr17	10523506	10523506	A	G	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon37:c.T5462C:p.L1821P,MYH2:NM_017534:exon37:c.T5462C:p.L1821P	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	937712	Myopathy,_proximal,_and_ophthalmoplegia	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.887	0.500181142683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.007846	0.31159	U	0.000000	1	0.81001	D	4.435	0.98769	H	-1.93	0.84842	D	-4.9	0.81514	D	0.935	0.94904	0.995	0.97104	D	0.855	0.95173	D	10	0.9611639	0.95528	D	0.500181	0.95139	D	0.887	0.96725	0.811	0.92719	0.957482142933	0.95703	0.6629248883988481	0.66229	1.18729455197	0.80180	0.8953820467	0.95912	D	0.694776	0.91158	D	0.465068	0.93140	D	0.430261	0.93055	D	0.998388409614563	0.93999	D	0.962304	0.85835	D	0.9210077	0.93346	0.9463505	0.98175	0.9210077	0.93346	0.9463505	0.98175	-16.118	0.97932	D	0.9705808519215402	0.99094	0.995	0.96107	P	.;.	.;.	5.594551	0.92407	32	0.99833041090007169	0.91456	0.99588	0.97739	D	AEFBI	0.959516	0.97989	D	1.0693637410323	0.97524	16.27729	0.972308118372528	0.98015	17.23907	0.999955009434609	0.48110	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	9.322000	0.95579	11.188000	0.88560	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.776	0.77985	419	0.81524	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3512.33	39	chr17	10523506	.	A	G	3512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.925;DP=986;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.01;SOR=0.685	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr17	10524954	10524954	G	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon34:c.C4774A:p.L1592M,MYH2:NM_017534:exon34:c.C4774A:p.L1592M	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	0	1487	32	3	0	38	0.0126162	.	.	.	256025	not_provided|Myopathy,_proximal,_and_ophthalmoplegia|not_specified	MedGen:C3661900|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.148	.	0.0009	0.00219649	0.0031	0.0005	0.0010	0.0003	0.0008	0.0010	0.0044	0.0172	0.0002393	37	154602	rs138393827	0.0018	0.0018	0.0013	0.0022	0.0164	0.0017	0.0017	0.0157	0.0154	0.0004	0.0007	0.0006	0.0006	0.0007	0.0045	0.0008	0.0020	0.0164	0.0011	0.0011	0.0010	0.0012	0.0120	0.0009	0.0009	0.0096	0.0087	0.0004	0	0.0009	0.0006	0.0006	0.0003	0	0.0010	0.0014	0.0120	0.091	0.31834	T	0.224	0.25591	T	0.015	0.17086	B	0.123	0.32463	B	0.118968	0.19093	N	0.272577	1	0.81001	D	1.92	0.51302	L	-1.22	0.78752	T	-0.73	0.20576	N	0.217	0.24260	-0.6386	0.63205	T	0.333	0.70051	T	10	0.009239972	0.00209	T	.	.	.	0.148	0.39182	.	.	0.524166996187	0.52061	0.13048176339087816	0.12973	0.34671068729	0.36577	0.380961924791	0.22393	T	0.321681	0.69275	T	-0.420978	0.01686	T	-0.364509	0.37529	T	0.00270645215745756	0.00028	T	0.525947	0.17303	T	0.095729694	0.22535	0.060628902	0.11577	0.09626438	0.22671	0.07062985	0.15028	-6.408	0.49572	T	0.1937811033623132	0.25510	0.080	0.08368	B	.;.	.;.	1.828592	0.23235	15.94	0.95352617738502965	0.26740	0.60875	0.31321	D	AEFBI	0.109154	0.21691	N	-0.770774773042775	0.14075	0.6982729	-0.702523042184392	0.16898	0.8960642	1.57835060714899E-5	0.02871	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.55	1.27	0.20595	-0.436000	0.06992	-0.396000	0.09442	-0.825000	0.02924	0.087000	0.22510	0.000000	0.08366	0.968000	0.53726	0.119:0.0:0.4051:0.4759	8.002	0.29460	444	0.79803	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	7443.83	33	chr17	10524954	.	G	T	7443.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.892;DP=1182;ExcessHet=0.119;FS=4.955;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.62;MQRankSum=-13.57;QD=13.76;ReadPosRankSum=2.05;SOR=0.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	17	0	2	0
chr17	11640279	11640279	C	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon10:c.C1796T:p.P599L	.	419	1100	3	0	0	3	0.00136178	.	.	.	703954	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.00857040635011	0.0020	0.000599042	0.0023	0.0005	0.0016	0	0.0029	0.0032	0.0044	0.0009	0.0021086	326	154602	rs141077864	0.0028	0.0028	0.0027	0.0028	0.0030	0.0027	0.0027	0.0029	0.0028	0.0002	0.0013	0.0118	0	0.0022	0.0005	0.0030	0.0031	0.0006	0.0021	0.0021	0.0022	0.0020	0.0029	0.0019	0.0018	0.0026	0.0024	0.0007	0	0.0007	0.0107	0.0002	0.0033	0	0.0029	0.0033	0.0010	0.51	0.07497	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	0.065500	0.02190	N	1.894900	1	0.08975	N	1.735	0.44892	L	0.34	0.58176	T	-3.86	0.76980	D	0.133	0.17278	-1.0439	0.16148	T	0.148	0.47451	T	10	0.0076003075	0.00173	T	0.00857	0.22655	T	0.085	0.24743	.	.	0.33085137897	0.32697	0.28232489379158526	0.28145	0.0940302031534	0.10614	0.245362341404	0.03295	T	0.100659	0.40667	T	-0.510696	0.00497	T	-0.509721	0.21343	T	0.00342962515758792	0.00036	T	0.176682	0.01716	T	0.06900966	0.15082	0.08997915	0.21074	0.06916768	0.15130	0.09102219	0.21376	-6.499	0.50278	T	.	.	0.076	0.05756	B	.;.	.;.	0.696665	0.10651	7.352	0.69514839902354653	0.08997	0.04378	0.09955	N	AEFBI	0.045539	0.07460	N	-1.00352865972454	0.08530	0.4003043	-1.04072523465022	0.08901	0.4399907	1.70846250250355E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	0.534	0.16320	0.279000	0.18532	-0.314000	0.10017	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2437:0.6075:0.0:0.1488	7.069	0.24346	784	0.47045	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1370.33	44	chr17	11640279	.	C	T	1370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.873;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1326	18	0	1	0
chr17	11680739	11680739	G	C	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon19:c.G3593C:p.W1198S	.	.	.	.	.	.	.	.	.	.	.	1386856	DNAH9-related_disorder|Ciliary_dyskinesia,_primary,_40|not_provided	.|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.603	0.0432503301132	0.0005	0.000798722	0.0006	9.76e-05	0.0017	0	0	0.0007	0	0	0.0005692	88	154602	rs141958775	0.0006	0.0006	0.0007	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	5.974e-05	0.0013	0.0001	0	1.872e-05	0.0003	0.0007	0.0006	6.958e-05	0.0005	0.0005	0.0004	0.0006	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0	0	0	0	0.0006	0.0019	0.0002	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000128	0.49741	D	0.145674	1	0.81001	D	3.705	0.94653	H	1.95	0.22474	T	-12.11	0.99653	D	0.938	0.94668	-0.6471	0.62840	T	0.189	0.54049	T	10	0.57750493	0.65663	D	0.04325	0.60884	D	0.603	0.84345	.	.	0.865915876325	0.86461	0.714406743973031	0.71383	0.584187970407	0.54108	0.678356528282	0.64032	T	0.242905	0.61174	T	-0.00587267	0.50843	T	0.16244	0.80955	D	0.813622057437897	0.47306	D	0.983102	0.94254	D	0.88283795	0.89902	0.84775144	0.91353	0.88283795	0.89903	0.84775144	0.91354	-13.022	0.89455	D	.	.	0.957	0.87636	P	.;.	.;.	5.324522	0.89363	30	0.98836441426569033	0.47052	0.99408	0.95647	D	AEFBI	0.906093	0.85844	D	0.884847844858482	0.90997	10.66602	0.793823987464214	0.89359	9.943147	0.999998657232855	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	4.85	0.62375	9.775000	0.98175	11.584000	0.93361	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	18.511	0.90867	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	838.33	36	chr17	11680739	.	G	C	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.447;DP=694;ExcessHet=0;FS=10.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.169;SOR=0.122	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr17	11690384	11690384	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.A4562G:p.H1521R	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.0542128596508	.	.	2.479e-05	0	8.652e-05	0	0	1.503e-05	0	6.063e-05	1.94e-05	3	154602	rs772342168	1.437e-05	1.437e-05	2.042e-05	8.25e-06	0.0005	9.23e-06	7.84e-06	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	8.093e-06	3.311e-05	2.319e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	.	.	.	0.998	0.73220	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.01	0.86067	M	0.12	0.61089	T	-7.2	0.94223	D	0.92	0.92433	0.045	0.83151	D	0.453	0.78609	T	10	0.91210896	0.90575	D	0.054213	0.65770	D	0.717	0.89966	0.677	0.81496	0.843893626949	0.84240	0.40171684312916134	0.40087	0.17001482027	0.19168	0.628695607185	0.56959	T	0.372695	0.73682	T	0.180458	0.72084	D	0.218411	0.84094	D	0.838271975517273	0.49187	D	0.977502	0.92063	D	0.80170596	0.84015	0.7970189	0.88083	0.80170596	0.84016	0.7970189	0.88084	-12.176	0.85698	D	.	.	0.119	0.24363	B	.;.	.;.	4.117353	0.61514	24.3	0.99770913638351888	0.85918	0.98887	0.88185	D	AEFBI	0.925958	0.90633	D	0.825557409746072	0.87677	9.301228	0.747493259656035	0.85971	8.741981	0.999302383141327	0.39077	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	8.836000	0.91725	9.360000	0.80368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	15.742	0.77670	883	0.28872	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1471.33	33	chr17	11690384	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.867;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.831;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	18	0	1	0
chr17	11701161	11701161	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon24:c.G5065T:p.A1689S	.	416	1095	10	1	0	12	0.00544959	.	.	.	1227896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0002	0.0147764	0.0084	0	0.0003	0.0002	0	4.496e-05	0.0022	0.0611	0.0072509	1121	154602	rs201091936	0.0036	0.0036	0.0020	0.0052	0.0570	0.0035	0.0035	0.0556	0.0551	0.0002	8.944e-05	0	2.519e-05	0	0.0023	5.396e-05	0.0044	0.0570	0.0021	0.0021	0.0013	0.0029	0.0629	0.0019	0.0018	0.0570	0.0548	4.811e-05	0	6.536e-05	0	0.0006	0	0	7.35e-05	0.0005	0.0629	0.959	0.02228	T	.	.	.	0.008	0.14655	B	0.015	0.17295	B	0.000144	0.49130	D	0.139387	0.999103	0.46078	D	0.295	0.10161	N	0.15	0.60734	T	-0.04	0.12099	N	0.333	0.37405	-0.9683	0.37551	T	0.099	0.36882	T	10	0.004956037	0.00106	T	.	.	.	0.089	0.25827	.	.	0.537588199982	0.53409	0.06738874994068127	0.06676	0.0825246582377	0.09310	0.468261450529	0.34441	T	0.031753	0.22183	T	-0.506652	0.00524	T	-0.45729	0.26896	T	0.0390908571047116	0.03527	T	0.813919	0.46746	T	0.1098582	0.25971	0.14893608	0.35185	0.11694882	0.27578	0.14893608	0.35184	-4.334	0.28651	T	.	.	0.087	0.11269	B	.;.	.;.	2.772972	0.36401	20.2	0.40346286817581889	0.02841	0.93188	0.57555	D	AEFBI	0.544545	0.55942	D	-0.366044707527459	0.26686	1.458373	-0.131204742432006	0.34139	1.960473	0.930890544919251	0.27026	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.464000	0.52821	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	19.819	0.96580	872	0.31118	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.030303	0.02632	597.33	33	chr17	11701161	.	G	T	597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.423;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	18	0	1	0
chr17	11747622	11747622	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon32:c.G6466A:p.G2156S	.	.	.	.	.	.	.	.	.	.	.	2677953	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.863	0.0920787092216	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs769107986	1.847e-05	1.847e-05	1.633e-05	2.063e-05	0.0001	1.265e-05	1.084e-05	4.907e-05	3.165e-05	2.987e-05	0	0	0.0001	1.872e-05	0	1.619e-05	3.312e-05	0	6.575e-06	6.568e-06	1.285e-05	0	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.885	0.96017	H	-2.96	0.91956	D	-5.44	0.85397	D	0.955	0.96416	1.090	0.99243	D	0.921	0.97379	D	10	0.9261688	0.91964	D	0.092079	0.75825	D	0.863	0.95839	0.656	0.79379	0.928242341286	0.92751	0.6860965955992235	0.68549	0.133691429425	0.15057	0.734970211983	0.72234	T	0.461152	0.79804	T	0.434197	0.91740	D	0.385918	0.91637	D	0.997166335582733	0.90916	D	0.982768	0.94177	D	0.9115519	0.92439	0.85162216	0.91613	0.9115519	0.92441	0.85162216	0.91613	-9.867	0.73112	D	.	.	0.542	0.66450	A	.;.	.;.	5.490754	0.91483	32	0.99840611958982095	0.92143	0.99812	0.99628	D	AEFBI	0.920965	0.89371	D	0.904842007842353	0.91995	11.17621	0.748174033038234	0.86020	8.757812	0.999985693533444	0.51787	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.5	4.5	0.54382	9.729000	0.98023	11.592000	0.93413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.0:1.0:0.0	17.416	0.87392	842	0.36989	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2057.33	33	chr17	11747622	.	G	A	2057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=794;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.214;SOR=0.548	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr17	11784312	11784312	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon41:c.G7834A:p.V2612M	.	420	1094	8	0	0	8	0.00364299	.	.	.	1345111	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0518140203042	0.0007	0.000599042	0.0006	0.0003	0.0016	0.0001	0	0.0008	0	6.058e-05	0.0006468	100	154602	rs143223880	0.0008	0.0008	0.0008	0.0008	0.0035	0.0008	0.0008	0.0023	0.0019	0.0001	0.0012	0.0002	0.0002	3.744e-05	0.0035	0.0010	0.0008	3.478e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0.0001	0	0.0020	0	0.0002	0	0.0034	0.0007	0.0019	0	0.054	0.38633	T	.	.	.	0.965	0.56013	D	0.703	0.54270	P	0.000013	0.62929	D	0.066130	0.995883	0.42905	D	2.63	0.76995	M	0.76	0.49919	T	-2.56	0.55339	D	0.764	0.76203	-0.7321	0.58857	T	0.194	0.54754	T	10	0.15328872	0.28937	T	0.051814	0.64816	D	0.276	0.59253	.	.	0.722565845894	0.72011	0.4616296427355741	0.46080	0.283701081783	0.30804	0.480753064156	0.36160	T	0.083271	0.37017	T	-0.400336	0.02304	T	-0.355095	0.38620	T	0.247755825519562	0.22772	T	0.975469	0.91344	D	0.30445665	0.53301	0.3743296	0.62601	0.36848658	0.58473	0.39443964	0.64137	-8.648	0.65405	D	.	.	0.298	0.52809	B	.;.	.;.	4.129795	0.61790	24.4	0.99539807959741422	0.70398	0.94001	0.59815	D	AEFBI	0.402055	0.47630	N	-0.119424929416037	0.36546	2.113997	-0.21281690391265	0.31074	1.755303	9.63354070028547E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	2.02	0.25641	4.155000	0.57910	3.823000	0.39960	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.1338:0.1036:0.7626:0.0	12.702	0.56404	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.005435	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	2731.33	34	chr17	11784312	.	G	A	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=879;ExcessHet=0;FS=1.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.058;SOR=0.779	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr17	11854426	11854426	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9931A:p.A3311T	.	421	1093	8	0	0	8	0.00364631	0	0.036	.	2231942	not_provided|Inborn_genetic_diseases|DNAH9-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.199	0.0165919456704	0.0002	0.00119808	0.0009	9.897e-05	0.0010	0	0	0.0002	0.0012	0.0057	0.0007438	115	154602	rs139176958	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.996e-05	0.0007	3.873e-05	0	1.876e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.408e-05	0	0.0002	0	0.0002	9.457e-05	0.0034	0.0003	0.0009	0.0054	0.426	0.12109	T	0.437	0.13441	T	0.017	0.17573	B	0.022	0.19653	B	0.340874	0.13965	N	0.710500	1	0.08975	N	1.38	0.34346	L	-1.35	0.80035	T	-1.94	0.45042	N	0.144	0.14622	-0.8245	0.53651	T	0.321	0.68969	T	10	0.0053035915	0.00116	T	0.016592	0.37919	T	0.199	0.48268	.	.	0.311691414656	0.30774	0.06991057062677458	0.06929	0.0872234964637	0.09831	0.215966016054	0.01090	T	0.196887	0.67158	T	-0.487925	0.00667	T	-0.472142	0.25286	T	0.0122225140822567	0.00197	T	0.80032	0.44603	T	0.042935245	0.06603	0.07626091	0.16872	0.043369338	0.06745	0.08129773	0.18463	-6.04	0.46613	T	.	.	0.068	0.02639	B	.;.;.	.;.;.	0.320326	0.06949	3.496	0.91704226793336741	0.20998	0.09032	0.14867	N	AEFBI	0.121297	0.23589	N	-1.18035635800702	0.05297	0.2411523	-1.26361198420955	0.04932	0.2338548	2.73436185864375E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	-6.77	0.01565	0.422000	0.21016	-4.487000	0.02131	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.1887:0.0:0.7208:0.0904	10.787	0.45612	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1062.33	34	chr17	11854426	.	G	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=720;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.789;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1305:.	18	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D	.	419	1095	8	0	0	8	0.00363967	0.0156	0.184	YES	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1062.33	34	chr17	11854427	.	C	A	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=720;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.775;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1305:.	18	0	1	0
chr17	11880154	11880154	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon54:c.C10555A:p.P3519T	.	427	1089	6	0	0	6	0.00274725	.	.	.	1661054	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.313	.	0.0086	0.00339457	0.0063	0.0014	0.0025	0	0.0076	0.0094	0.0110	0.0018	0.0065976	1020	154602	rs148325223	0.0094	0.0094	0.0096	0.0093	0.0110	0.0093	0.0092	0.0108	0.0107	0.0011	0.0030	0.0088	0	0.0089	0.0019	0.0110	0.0082	0.0023	0.0062	0.0062	0.0065	0.0060	0.0097	0.0059	0.0058	0.0091	0.0089	0.0018	0.0340	0.0033	0.0069	0	0.0083	0.0136	0.0097	0.0047	0.0010	0.115	0.30375	T	0.077	0.42436	T	0.991	0.64070	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	1.32	0.35219	T	-7.51	0.95074	D	0.967	0.97750	-0.3778	0.72721	T	0.235	0.60136	T	10	0.0103057325	0.00230	T	.	.	.	0.313	0.63482	.	.	0.778069038823	0.77602	0.42470167739186965	0.42387	0.390937620753	0.40295	0.598156988621	0.52645	T	0.330491	0.70218	T	-0.364743	0.03869	T	-0.286317	0.46154	T	0.0649635257095597	0.07925	T	0.978202	0.92336	D	0.49797702	0.66976	0.47374466	0.69497	0.44088176	0.63460	0.47374466	0.69498	-10.774	0.78404	D	.	.	0.221	0.45124	B	.;.;.	.;.;.	4.445739	0.69058	25.3	0.99298890932204065	0.58541	0.98527	0.83734	D	AEFDBCI	0.891518	0.82754	D	0.824469320452021	0.87611	9.278214	0.713179577740243	0.83380	8.006348	0.999658104778558	0.41424	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	7.905000	0.86479	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	17.360	0.87236	640	0.64132	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3963.33	36	chr17	11880154	.	C	A	3963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.572;DP=976;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.21;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	18	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1215.33	34	chr17	11937502	.	G	T	1215.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.667;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.28;SOR=0.698	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	12744412	12744412	T	C	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_001146312:exon8:c.T947C:p.L316P,MYOCD:NM_153604:exon8:c.T947C:p.L316P,MYOCD:NM_001378306:exon9:c.T710C:p.L237P	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0010	0.01877	0.0155	0.0022	0.0639	0.0459	0	0.0014	0.0069	0.0389	0.0115199	1781	154602	rs76490220	0.0057	0.0057	0.0051	0.0062	0.0433	0.0056	0.0055	0.0417	0.0410	0.0010	0.0433	0	0.0263	3.748e-05	0.0024	0.0017	0.0077	0.0335	0.0064	0.0064	0.0060	0.0069	0.0375	0.0061	0.0059	0.0332	0.0315	0.0012	0	0.0290	0	0.0375	0	0	0.0017	0.0071	0.0323	0.495	0.11550	T	0.279	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.007684	0.31251	N	0.337436	0.526855	0.31943	D	-2.705	0.00032	N	0.87	0.46412	T	2.56	0.00234	N	0.111	0.18784	-1.0703	0.09348	T	0.006	0.01981	T	10	0.0013025403	0.00014	T	.	.	.	0.088	0.25558	.	.	.	.	0.1437178207073558	0.14294	0.118940625462	0.13400	0.332306563854	0.15283	T	0.158223	0.50115	T	-0.633	0.00092	T	-0.638015	0.09815	T	0.00990134470379028	0.00131	T	0.0153985	0.00132	T	0.14492136	0.33244	0.16439006	0.38084	0.22008693	0.44556	0.16439006	0.38084	-2.992	0.10831	T	0.02404654368365607	0.00020	0.039	0.00012	B	.;.;.	.;.;.	1.515418	0.19464	14.28	0.85335163168871686	0.15829	0.00888	0.03496	N	ALL	0.041969	0.06451	N	-0.981435183900454	0.09000	0.4242057	-0.783055168872451	0.14910	0.7815568	0.99566907297825	0.34254	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.12	4.14	0.47821	1.469000	0.34952	4.114000	0.41935	-0.175000	0.10903	0.033000	0.20612	0.859000	0.27469	0.988000	0.63387	0.1561:0.7644:0.0:0.0795	8.933	0.34842	949	0.11373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.026515	0.02632	1553.33	42	chr17	12744412	.	T	C	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=831;ExcessHet=0;FS=5.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.97;SOR=0.38	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr17	14207172	14207172	C	T	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon7:c.C1291T:p.R431W	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	0	1517	5	0	0	5	0.00164528	.	.	.	439243	not_provided|COX10-related_disorder|Mitochondrial_complex_IV_deficiency,_nuclear_type_1|Leigh_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.127207692747	0.0029	0.000798722	0.0037	0.0006	0.0013	0	0.0014	0.0060	0	0.0013	0.0032341	500	154602	rs113058506	0.0038	0.0038	0.0038	0.0037	0.0045	0.0037	0.0037	0.0044	0.0044	0.0008	0.0009	0.0003	2.521e-05	0.0015	0.0024	0.0045	0.0032	0.0014	0.0021	0.0021	0.0023	0.0019	0.0039	0.0019	0.0018	0.0035	0.0033	0.0006	0	0.0007	0.0003	0.0002	0.0010	0.0034	0.0039	0.0014	0.0010	0.001	0.78490	D	0.001	0.83351	D	0.993	0.65571	D	0.53	0.48544	P	0.024285	0.26288	N	0.411149	0.775001	0.29395	N	2.175	0.60977	M	-0.16	0.65378	T	-3.1	0.63554	D	0.255	0.28849	-0.4392	0.70757	T	0.351	0.71454	T	10	0.006960273	0.00158	T	0.127208	0.80898	D	0.206	0.49396	.	.	0.350697349064	0.34675	0.7562210992463857	0.75570	0.660468085509	0.58873	0.323211789131	0.13906	T	0.412165	0.76640	T	-0.378087	0.03203	T	-0.314506	0.43174	T	0.0283358393068919	0.01737	T	0.824917	0.48720	T	0.15738751	0.35467	0.13530475	0.32400	0.14358942	0.32994	0.16019136	0.37323	-6.251	0.48333	T	.	.	0.207	0.43393	B	.	.	3.768072	0.54107	23.4	0.99849675408492955	0.92925	0.84086	0.43171	D	AEFDBCI	0.400124	0.47513	N	0.236409398206741	0.52969	3.468189	0.174855398482841	0.48474	3.06277	0.862389861538255	0.25251	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	4.59	4.59	0.56297	0.807000	0.26800	2.473000	0.32905	-0.176000	0.10722	0.998000	0.41325	0.653000	0.25975	0.239000	0.22975	0.1738:0.8261:0.0:0.0	11.940	0.52182	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.000000	0.02632	1594.33	44	chr17	14207172	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=764;ExcessHet=0;FS=3.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=1.12;SOR=1.244	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	18	0	1	0
chr17	15304132	15304132	T	C	exonic	TEKT3	.	nonsynonymous SNV	TEKT3:NM_031898:exon9:c.A1277G:p.E426G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0375452546342	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs779949263	8.211e-06	8.211e-06	5.446e-06	1.101e-05	0.0001	4.38e-06	3.46e-06	8.027e-05	6.259e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.022	0.57587	D	0.958	0.54977	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	3.47	0.92451	M	4.1	0.02944	T	-4.01	0.74193	D	0.648	0.65930	-1.1541	0.00908	T	0.038	0.16376	T	10	0.6985873	0.72300	D	0.037545	0.57683	D	0.435	0.74022	0.559	0.67821	0.493628743246	0.48995	0.5289222020005292	0.52816	0.644633597594	0.57953	0.613064885139	0.54749	T	0.218477	0.58121	T	0.0368323	0.56629	T	-0.00334149	0.70120	D	0.855221033096313	0.50621	D	0.657134	0.26688	T	0.6547127	0.75615	0.5029722	0.71269	0.6547127	0.75617	0.5029722	0.71269	-8.291	0.63035	D	.	.	0.229	0.46121	B	.;.	.;.	4.461120	0.69433	25.4	0.97914741629834967	0.36836	0.97872	0.77764	D	AEFDGBHI	0.942687	0.94758	D	0.680908532554214	0.78383	6.860233	0.60812971202826	0.75529	6.326733	0.999997990640844	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	5.866000	0.69342	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.477000	0.28498	0.0:0.0:0.0:1.0	15.223	0.73024	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1114.33	39	chr17	15304132	.	T	C	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.961;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	15596536	15596536	A	G	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon9:c.T1682C:p.I561T,CDRT1:NM_006382:exon9:c.T1682C:p.I561T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.014945033738	.	0.000199681	0.0001	0	0.0005	0	0	6.765e-05	0	0.0006	7.68e-05	2	26028	rs556615038	0.0001	0.0001	8.069e-05	0.0001	0.0004	8.701e-05	8.187e-05	0.0003	0.0003	9.023e-05	0.0002	0	0	0	0.0002	7.779e-05	0.0002	0.0004	8.548e-05	8.531e-05	9.006e-05	8.07e-05	0.0006	4.961e-05	3.965e-05	0.0002	9.04e-05	2.412e-05	0	6.536e-05	0	0	0	0.0034	0.0001	0	0.0006	0.031	0.54683	D	0.083	0.52389	T	0.11	0.31319	B	0.025	0.25678	B	0.041494	0.01892	U	2.614030	1	0.08975	N	1.07	0.27075	L	2.19	0.46777	T	-2.31	0.58085	N	0.102	0.12341	-1.0239	0.22443	T	0.047	0.20275	T	10	0.023156911	0.00598	T	0.014945	0.35393	T	0.038	0.09825	.	.	0.0482279557977	0.04254	0.5342365543681955	0.53348	.	.	0.288813471794	0.08750	T	0.008632	0.07910	T	-0.44366	0.01231	T	-0.540913	0.18206	T	0.0297904587917618	0.01957	T	0.534647	0.17878	T	0.055843852	0.10909	0.083802626	0.19233	0.055843852	0.10909	0.083802626	0.19233	-8.586	0.64996	D	.	.	0.107	0.50645	B	.;.;.;.;.	.;.;.;.;.	0.792865	0.11633	8.220	0.60858693291211297	0.06566	0.03476	0.08635	N	AEFGI	0.067485	0.13268	N	-0.745364849783276	0.14759	0.7379745	-0.762733928754893	0.15410	0.8103182	6.03680421327724E-5	0.04171	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.7	0.41607	0.790000	0.26562	2.280000	0.31891	0.747000	0.86732	0.000000	0.06391	0.001000	0.17328	0.081000	0.17303	0.8245:0.0:0.1755:0.0	7.835	0.28525	793	0.45818	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	40	chr17	15596536	.	A	G	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=776;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.44;MQRankSum=0.437;QD=8.45;ReadPosRankSum=0.073;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1425	18	0	1	0
chr17	15613653	15613653	C	T	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon4:c.G961A:p.A321T,CDRT1:NM_006382:exon4:c.G961A:p.A321T	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0062551217477	.	.	9.5e-06	0	0	0	0	0	0	6.404e-05	3.84e-05	1	26028	rs754777026	3.445e-06	4.104e-06	2.741e-06	4.157e-06	0.0004	1.01e-06	7.3e-07	6.545e-05	2.652e-05	0	0	0	0	0	0.0004	9.024e-07	1.67e-05	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.10588	T	0.58	0.10501	T	0.013	0.16609	B	0.003	0.08700	B	0.929407	0.07526	N	1.046170	1	0.08975	N	0.095	0.08423	N	1.56	0.29602	T	-0.44	0.14588	N	0.096	0.14054	-0.9786	0.35322	T	0.043	0.18285	T	10	0.051006705	0.04916	T	0.006255	0.16406	T	0.058	0.16647	0.524	0.62818	0.0138822411134	0.00435	0.10579767987263887	0.10509	.	.	0.239750534296	0.02768	T	8.42E-4	0.00419	T	-0.324288	0.06553	T	-0.60065	0.12758	T	0.0279001226925331	0.01674	T	0.560444	0.23025	T	0.016573371	0.00207	0.0439408	0.05582	0.016573371	0.00207	0.0439408	0.05581	-2.072	0.03465	T	.	.	0.073	0.23219	B	.;.;.	.;.;.	-0.110894	0.03578	0.695	0.5929816715631796	0.06192	0.00282	0.01521	N	AEFGI	0.020791	0.00856	N	-1.02450014896335	0.08098	0.3784899	-0.998684015964709	0.09815	0.4905022	1.81134339661278E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.34	2.86	0.32427	0.198000	0.17018	-0.710000	0.07754	-0.259000	0.06933	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.1088:0.1721:0.7191	5.252	0.14843	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2068.33	33	chr17	15613653	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.79;MQRankSum=-0.998;QD=13.79;ReadPosRankSum=0.438;SOR=0.687	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	18	0	1	0
chr17	15628790	15628790	G	A	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon8:c.C1130T:p.S377F,TRIM16:NM_001348122:exon8:c.C1130T:p.S377F,TRIM16:NM_001348126:exon9:c.C1034T:p.S345F,TRIM16:NM_006470:exon9:c.C1520T:p.S507F,TRIM16:NM_001348120:exon10:c.C1520T:p.S507F,TRIM16:NM_001348124:exon11:c.C872T:p.S291F,TRIM16:NM_001348125:exon11:c.C872T:p.S291F,TRIM16:NM_001348119:exon12:c.C1520T:p.S507F	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0955856229136	0.0005	0.00199681	0.0015	0	0.0006	0	0	0.0009	0.0022	0.0069	0.0013001	201	154602	rs146156927	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0008	0.0067	0.0065	0.0001	0.0006	0.0070	0	3.744e-05	0.0066	0.0002	0.0013	0.0072	0.0006	0.0006	0.0006	0.0007	0.0054	0.0005	0.0005	0.0038	0.0032	9.624e-05	0.0033	0.0005	0.0069	0	0	0.0068	0.0003	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.947	0.68407	D	.	.	.	.	0.989037	0.81001	D	4.095	0.97289	H	-0.35	0.68616	T	-4.48	0.77965	D	0.476	0.57860	0.275	0.87150	D	0.536	0.82859	D	9	0.024820805	0.00697	T	0.095586	0.76455	D	0.627	0.85615	.	.	0.906246385288	0.90530	0.6927661692394586	0.69216	0.581702386416	0.53958	.	.	.	0.430462	0.77891	T	-0.111629	0.34500	T	0.0707417	0.74959	D	0.18864821436576	0.19765	T	0.875412	0.58680	D	0.3580507	0.57687	0.51122445	0.71755	0.3580507	0.57687	0.51122445	0.71755	-11.888	0.87291	D	.	.	0.502	0.65364	A	.;.;.;.;.	.;.;.;.;.	4.563966	0.71947	25.8	0.99841371369923149	0.92143	0.97189	0.73214	D	AEFGBI	0.844736	0.76169	D	0.76256967206032	0.83722	8.092111	0.657689500530787	0.79184	7.029177	0.999771011070061	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	5.183000	0.64902	9.698000	0.81294	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	15.548	0.75864	804	0.43891	.;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.004076	0.020468	0.000000	0.008621	0.000000	0.007576	0.02632	3453.33	46	chr17	15628790	.	G	A	3453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=926;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.7;MQRankSum=-5.749;QD=14.51;ReadPosRankSum=-0.003;SOR=0.722	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	15636073	15636073	C	G	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon5:c.G422C:p.R141T,TRIM16:NM_001348122:exon5:c.G422C:p.R141T,TRIM16:NM_001348126:exon6:c.G326C:p.R109T,TRIM16:NM_006470:exon6:c.G812C:p.R271T,TRIM16:NM_001348120:exon7:c.G812C:p.R271T,TRIM16:NM_001348124:exon8:c.G164C:p.R55T,TRIM16:NM_001348125:exon8:c.G164C:p.R55T,TRIM16:NM_001348119:exon9:c.G812C:p.R271T	.	421	1096	5	0	0	5	0.00227583	.	.	.	2814976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	.	.	0.0108	0.0018	0.0080	0.0391	0.0062	0.0072	0.0045	0.0219	0.0111124	1718	154602	rs142902437	0.0003	0.0026	0.0003	0.0003	0.0020	0.0003	0.0003	0.0017	0.0015	0.0003	0.0002	0.0002	0.0020	0.0007	0	0.0002	0.0003	0.0011	0.0017	0.0055	0.0018	0.0016	0.0072	0.0015	0.0014	0.0052	0.0046	0.0007	0	0.0014	0.0006	0.0072	0.0012	0	0.0019	0.0010	0.0045	0.068	0.35726	T	0.022	0.57587	D	0.007	0.14184	B	0.011	0.15521	B	0.000075	0.52346	U	0.127194	0.996586	0.22968	N	2.19	0.61577	M	0.31	0.66834	T	-2.74	0.58248	D	0.093	0.34336	-0.8797	0.49786	T	0.191	0.54345	T	10	0.0040765405	0.00080	T	.	.	.	0.054	0.15330	.	.	.	.	0.335178000122452	0.33430	0.40539797669	0.41440	0.333759605885	0.15501	T	0.075344	0.35154	T	-0.352267	0.04586	T	-0.380751	0.35634	T	0.0196647825029475	0.00669	T	0.568143	0.20320	T	0.09388597	0.22060	0.08176437	0.18607	0.09388597	0.22060	0.08176437	0.18607	-4.312	0.28344	T	.	.	0.327	0.55039	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.885814	0.12589	9.119	0.293871150753654	0.01556	0.11249	0.16508	N	AEFGBHI	0.122829	0.23815	N	-0.861289901193496	0.11774	0.5700241	-0.948779146322556	0.10951	0.554927	0.0665572100857383	0.15397	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.97	0.777	0.17682	0.263000	0.18247	0.692000	0.20773	-1.689000	0.00774	0.123000	0.23227	0.163000	0.23278	0.028000	0.12845	0.0:0.6544:0.1581:0.1875	5.914	0.18285	809	0.43032	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013951	0.005952	0.012329	0.004237	0.000000	0.000000	0.019737	0.016393	0.02632	116.33	35	chr17	15636073	.	C	G	116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.335;DP=778;ExcessHet=0;FS=20.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.82;MQRankSum=-9.413;QD=0.88;ReadPosRankSum=0.544;SOR=2.123	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	18	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007549	0.000000	0.004121	0.013043	0.000000	0.017544	0.003546	0.016260	0.05263	4685.83	36	chr17	15738743	.	G	T	4685.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=930;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.18;MQRankSum=-6.547;QD=15.16;ReadPosRankSum=0.393;SOR=0.742	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1508	17	0	2	0
chr17	16058022	16058022	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon38:c.G5744A:p.R1915Q,NCOR1:NM_006311:exon39:c.G6053A:p.R2018Q	.	.	.	.	.	.	.	.	.	.	.	3347757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.0323694255703	.	.	6.596e-05	0	0.0002	0	0	1.5e-05	0	0.0003	9.7e-05	15	154602	rs200722329	0.0001	0.0001	0.0001	0.0001	0.0013	9.266e-05	8.731e-05	0.0010	0.0010	0.0001	0.0013	0	2.519e-05	0	0.0002	3.417e-05	0.0002	0.0005	0.0005	0.0006	0.0004	0.0007	0.0051	0.0005	0.0004	0.0042	0.0039	4.819e-05	0	0.0051	0	0	0	0	0	0.0005	0.0004	0.007	0.59928	D	0.156	0.67890	T	0.999	0.77913	D	0.978	0.76113	D	0.000001	0.62929	D	0.057697	1	0.81001	D	2.175	0.60977	M	0.88	0.46028	T	-2.76	0.61580	D	0.698	0.79118	-0.7452	0.58185	T	0.247	0.61658	T	10	0.24378839	0.41599	T	0.032369	0.54212	D	0.176	0.44373	0.176	0.08257	0.712798973876	0.71028	0.5988699406493202	0.59817	1.03009341363	0.75405	0.414899051189	0.27134	T	0.864786	0.97029	D	-0.170611	0.25143	T	-0.0583804	0.66446	T	0.166976645848132	0.18371	T	0.945605	0.79272	D	0.3068724	0.53514	0.22595881	0.47558	0.3068724	0.53514	0.22595881	0.47557	-3.309	0.19806	T	.	.	0.159	0.35225	B	.;.;.	.;.;.	4.810941	0.78262	26.9	0.98949580800074066	0.49112	0.98730	0.86119	D	AEFBI	0.878675	0.80410	D	0.582542554961281	0.72084	5.750577	0.536241634790333	0.70448	5.506449	0.999999902753299	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	5.639000	0.67541	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.165000	0.20815	0.0:1.0:0.0:0.0	19.184	0.93620	229	0.91079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	33	chr17	16058022	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.438;DP=682;ExcessHet=0;FS=4.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.891;SOR=1.212	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	18	0	1	0
chr17	16062252	16062252	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon35:c.G5288A:p.R1763Q,NCOR1:NM_006311:exon36:c.G5240A:p.R1747Q	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0287367692879	.	0.000199681	0.0001	0.0003	0	0.0001	0	0	0	0.0006	9.06e-05	14	154602	rs554764533	9.955e-05	0.0001	7.65e-05	0.0001	0.0007	8.609e-05	8.077e-05	0.0005	0.0005	0.0002	0	3.858e-05	0	0	0.0007	6.392e-05	9.968e-05	0.0007	9.201e-05	9.188e-05	0.0001	6.721e-05	0.0010	5.529e-05	4.365e-05	0.0004	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0010	0.002	0.72154	D	0.057	0.53426	T	0.999	0.77913	D	0.978	0.78936	D	0.000005	0.62929	D	0.102905	0.999994	0.58761	D	1.04	0.26193	L	0.86	0.46777	T	-3.46	0.67705	D	0.749	0.89577	-0.5235	0.67785	T	0.298	0.66933	T	10	0.27328068	0.44876	T	0.028737	0.51367	D	0.272	0.58758	0.165	0.06955	0.609852891598	0.60671	0.6108040292834989	0.61012	1.03009341363	0.75405	0.628771543503	0.56970	T	0.831086	0.95967	D	-0.174371	0.24576	T	-0.130764	0.60906	T	0.262156250738762	0.23409	T	0.986901	0.96679	D	0.57007927	0.71065	0.4997324	0.71077	0.57007927	0.71066	0.4997324	0.71077	-5.989	0.46188	T	.	.	0.380	0.58405	A	.;.;.	.;.;.	5.324523	0.89363	30	0.99949373114376738	0.99931	0.99188	0.92529	D	AEFBI	0.843652	0.76067	D	0.778292265059524	0.84732	8.370257	0.755740138471598	0.86584	8.936701	0.999999812920953	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.74	5.74	0.90070	7.303000	0.78192	7.693000	0.65888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.913	0.92466	232	0.90957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1043.33	33	chr17	16062252	.	C	T	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=723;ExcessHet=0;FS=1.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.08;SOR=0.997	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	16417718	16417718	G	C	exonic	TRPV2	.	nonsynonymous SNV	TRPV2:NM_016113:exon2:c.G50C:p.G17A	.	429	1070	23	0	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0025	0.0479233	0.0200	0.0020	0.0162	0.2129	0	0.0013	0.0122	0.0170	0.0184797	2857	154602	rs3813768	0.0085	0.0085	0.0084	0.0087	0.2062	0.0084	0.0083	0.2024	0.2009	0.0010	0.0127	0.0044	0.2062	1.872e-05	0.0031	0.0013	0.0112	0.0166	0.0097	0.0098	0.0085	0.0110	0.2119	0.0093	0.0091	0.2015	0.1973	0.0015	0	0.0058	0.0037	0.2119	0	0	0.0014	0.0095	0.0220	0.124	0.27426	T	0.479	0.11933	T	0.004	0.12183	B	0.004	0.10090	B	0.098097	0.02521	N	1.778940	1	0.26325	P	1.935	0.51832	L	-2.28	0.87512	D	-0.2	0.10136	N	0.122	0.11340	-1.0386	0.17740	T	0.000	0.00114	T	9	0.0012409985	0.00014	T	.	.	.	0.198	0.48105	.	.	.	.	0.17354491738246897	0.17274	0.316423351387	0.33903	0.329348444939	0.14835	T	0.150184	0.48954	T	-0.44888	0.01147	T	-0.273742	0.47440	T	0.00295731834542122	0.00031	T	0.744825	0.36507	T	0.052044585	0.09648	0.056770544	0.10200	0.052044585	0.09648	0.056770544	0.10200	-3.811	0.20969	T	.	.	0.085	0.09965	B	.	.	1.157249	0.15458	11.86	0.8620776380375742	0.16383	0.36304	0.25502	N	AEFGBI	0.129353	0.24749	N	-0.698007810690757	0.16078	0.8160129	-0.690049993956234	0.17209	0.9140061	0.999995225458586	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.45	3.48	0.38946	2.327000	0.43517	2.838000	0.35062	0.672000	0.70159	0.526000	0.27158	0.985000	0.30750	0.012000	0.09680	0.164:0.0:0.836:0.0	9.568	0.38574	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.004076	0.000000	0.000000	0.000000	0.015244	0.003788	0.02632	2566.33	230	chr17	16417718	.	G	C	2566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=860;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.674;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	18	0	1	0
chr17	16551938	16551938	C	T	exonic	ZNF287	.	nonsynonymous SNV	ZNF287:NM_001346170:exon5:c.G2060A:p.R687H,ZNF287:NM_001346167:exon6:c.G2204A:p.R735H,ZNF287:NM_001346169:exon6:c.G2204A:p.R735H,ZNF287:NM_001346171:exon6:c.G1697A:p.R566H,ZNF287:NM_020653:exon6:c.G2204A:p.R735H,ZNF287:NM_001346168:exon7:c.G2204A:p.R735H	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00620099950484	.	0.00179712	0.0011	0	0.0010	0	0	0.0003	0.0022	0.0060	0.0009508	147	154602	rs543649828	0.0005	0.0005	0.0003	0.0007	0.0061	0.0005	0.0005	0.0056	0.0055	2.987e-05	0.0009	0.0028	0	0	0.0009	5.396e-05	0.0007	0.0061	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	2.407e-05	0	0.0009	0.0023	0	0	0	8.823e-05	0.0009	0.0062	0.427	0.09629	T	0.063	0.45110	T	.	.	.	.	.	.	0.000140	0.49741	D	0.000000	1	0.08975	N	.	.	.	2.47	0.14783	T	0.26	0.04380	N	0.152	0.15609	-1.0156	0.25143	T	0.018	0.07329	T	10	0.0059185624	0.00133	T	0.006201	0.16259	T	0.094	0.27141	.	.	0.082315109003	0.07666	0.16318969162054311	0.16238	1.33258511379	0.83673	0.436267673969	0.30067	T	.	.	.	-0.549231	0.00295	T	-0.558541	0.16513	T	0.0543660982385455	0.06250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.;.	.;.	2.711439	0.35441	19.90	0.99729596283437572	0.82690	0.00003	0.00079	N	AEFGBHCI	0.085190	0.17269	N	-0.322066696290559	0.28311	1.560534	-0.315119740052915	0.27609	1.533296	0.00230327555490882	0.09310	0.638212	0.43195	0	0.486142	0.07564	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	4.89	1.84	0.24348	-1.814000	0.01817	-0.306000	0.10077	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.5525:0.1706:0.277	4.193	0.09889	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2891.33	33	chr17	16551938	.	C	T	2891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=872;ExcessHet=0;FS=2.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.369;SOR=0.873	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	18	0	1	0
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025524	0.000000	0.019231	0.048193	0.000000	0.037037	0.033333	0.021930	0.02632	917.33	34	chr17	16772639	.	C	T	917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.31;MQRankSum=-0.332;QD=9.97;ReadPosRankSum=0.657;SOR=0.73	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1376	18	0	1	0
chr17	16940505	16940505	G	A	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon4:c.C452T:p.P151L	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	0	1520	1	1	0	3	0.000985869	.	.	.	537279	not_provided|Immunodeficiency,_common_variable,_2	MedGen:C3661900|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0237886713449	.	0.000199681	0.0001	0	0.0002	0.0002	0	9.595e-05	0	0.0002	9.06e-05	14	154602	rs200037919	7.666e-05	7.798e-05	7.627e-05	7.705e-05	0.0003	6.494e-05	6.073e-05	0.0001	0.0001	0	0.0002	0	0.0002	0	0.0003	5.576e-05	0.0003	0.0002	6.567e-05	6.562e-05	8.996e-05	4.03e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	0	0	0.0001	0	0.0002	0	0	8.822e-05	0.0005	0	0.568	0.06223	T	0.294	0.20745	T	0.005	0.15093	B	0.001	0.08700	B	0.493811	0.12027	N	0.731309	1	0.08975	N	0.55	0.14455	N	-3.05	0.92407	D	-0.09	0.08340	N	0.18	0.20793	-0.6436	0.62992	T	0.508	0.81469	D	10	0.031306446	0.01264	T	0.023789	0.46765	T	0.094	0.27141	.	.	0.475352637851	0.47162	0.1525459764576454	0.15176	0.0117302254037	0.01102	0.422643899918	0.28200	T	0.082748	0.36898	T	-0.238387	0.15554	T	-0.286716	0.46114	T	0.00636678146414989	0.00071	T	0.653235	0.26349	T	0.033698205	0.03642	0.031280894	0.01694	0.033698205	0.03641	0.031280894	0.01694	-3.554	0.17196	T	0.15567570091871408	0.18678	0.084	0.09820	B	.;.	.;.	1.029951	0.14100	10.67	0.79617044199393039	0.12823	0.03550	0.08749	N	ALL	0.028069	0.02405	N	-1.0749268631206	0.07108	0.3292159	-1.13952661317447	0.06958	0.3366993	0.999999997774828	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.530356	0.10902	0	.	.	3.39	-0.705	0.10686	0.368000	0.20132	0.984000	0.23145	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3748:0.0:0.3716:0.2537	2.037	0.03327	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	238.33	27	chr17	16940505	.	G	A	238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=600;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.01;ReadPosRankSum=0.492;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1183	18	0	1	0
chr17	16952474	16952474	C	G	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon2:c.G171C:p.Q57H	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	2	1517	3	0	0	3	0.000987817	.	.	.	844740	not_provided|Immunodeficiency,_common_variable,_2|TNFRSF13B-related_disorder	MedGen:C3661900|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	0.0617061990022	0.0002	.	0.0003	0	0	0.0001	0	0.0003	0.0011	0.0009	0.0002975	46	154602	rs149084717	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	2.987e-05	0.0001	0.0002	2.519e-05	0	0.0010	0.0002	0.0003	0.0011	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0003	0	0	0	0.0034	0.0003	0	0.0004	0.121	0.27783	T	0.14	0.33554	T	0.995	0.67487	D	0.848	0.60574	P	0.337444	0.14016	N	0.597735	1	0.08975	N	1.95	0.52479	M	-4.0	0.96339	D	-1.9	0.44284	N	0.285	0.32259	0.413	0.89294	D	0.880	0.96012	D	10	0.08330938	0.13844	T	0.061706	0.68417	D	0.221	0.51721	0.309	0.28128	0.77849948751	0.77646	0.22587528901614304	0.22502	0.0777884106708	0.08756	0.258597612381	0.04724	T	0.605257	0.87408	D	-0.182537	0.23358	T	-0.124133	0.61460	T	0.0252151817429217	0.01300	T	0.60094	0.22456	T	0.11089811	0.26208	0.07453472	0.16317	0.08547653	0.19830	0.07907799	0.17769	-4.844	0.35100	T	0.22690741608787626	0.30671	0.193	0.41280	B	.;.	.;.	1.687320	0.21502	15.23	0.48955271119825516	0.04128	0.03572	0.08784	N	AEFBCI	0.036534	0.04883	N	-0.227477237822579	0.32009	1.800758	-0.465836131590873	0.23101	1.258092	0.999922840096965	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.22	2.19	0.26890	0.737000	0.25812	1.962000	0.29942	0.419000	0.20781	0.015000	0.19116	0.981000	0.30433	0.283000	0.24091	0.0:0.7488:0.2512:0.0	8.080	0.29899	534	0.73357	TACI, cysteine-rich domain;TACI, cysteine-rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003553	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	820.33	34	chr17	16952474	.	C	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=715;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.551;SOR=0.292	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1135	18	0	1	0
chr17	17138095	17138095	C	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon7:c.C916A:p.P306T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1704.81	34	chr17	17138095	.	C	A	1704.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.9;SOR=1.421	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	18	1	0	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.02632	1316.33	45	chr17	17158688	.	C	T	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.54;DP=725;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=1.73;QD=16.88;ReadPosRankSum=1.03;SOR=0.394	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	18	0	1	0
chr17	17167542	17167542	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.G5951A:p.R1984K	.	413	1101	7	1	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0163738	0.0039	0.0011	0.0243	0.0597	0	0.0006	0.0195	0.0018	0.0022121	342	154602	rs3744128	0.0022	0.0017	0.0022	0.0021	0.0667	0.0021	0.0021	0.0630	0.0615	0.0004	0.0446	0	0.0667	0	0	7.601e-05	0.0033	0.0021	0.0071	0.0071	0.0055	0.0088	0.0584	0.0068	0.0066	0.0530	0.0508	0.0005	0	0.0470	0	0.0584	0	0	0.0002	0.0057	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	34	chr17	17167542	.	G	A	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=799;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.245;SOR=0.593	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1446	18	0	1	0
chr17	17184886	17184886	A	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_015134:exon23:c.A3109G:p.K1037E,MPRIP:NM_001364716:exon24:c.A7270G:p.K2424E	.	.	.	.	.	.	.	.	.	.	.	3564161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00902522936862	7.8e-05	.	0.0002	0	0	0	0	7.493e-05	0.0011	0.0010	0.0001552	24	154602	rs371569028	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	0	0	0.0002	2.521e-05	0	0.0004	0.0001	0.0002	0.0012	0.0001	0.0001	0.0001	9.418e-05	0.0004	6.513e-05	5.324e-05	0.0001	8.293e-05	0	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.006	0.61437	D	1.0	0.03438	T	0.417	0.35244	B	0.085	0.29395	B	0.000013	0.62929	D	0.110876	1	0.81001	D	.	.	.	2.05	0.26588	T	-0.64	0.18670	N	0.106	0.09066	-1.1140	0.02748	T	0.063	0.26279	T	10	0.03565997	0.01825	T	0.009025	0.23750	T	0.048	0.13305	.	.	0.147330786459	0.14319	0.06780886288905341	0.06718	0.714765047335	0.61905	0.404123485088	0.25642	T	.	.	.	-0.435184	0.01380	T	-0.46671	0.25872	T	0.14094452559948	0.16357	T	0.765423	0.39305	T	.	.	.	.	.	.	.	.	-4.431	0.29975	T	.	.	0.105	0.19438	B	.;.	.;.	4.025801	0.59491	24.1	0.99057076164401625	0.51390	0.92179	0.55121	D	AEFBI	0.365715	0.45379	N	0.0720111315665611	0.45161	2.777278	0.167949765379777	0.48101	3.030657	0.729605115607542	0.23028	0.722319	0.85440	0	0.724815	0.89359	0	0.644132	0.48003	0	0.735409	0.98432	0	.	.	5.26	4.18	0.48473	4.071000	0.57275	7.641000	0.63200	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.8527:0.1473:0.0:0.0	12.435	0.54933	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	39	chr17	17184886	.	A	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=747;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.155;SOR=0.994	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	18	0	1	0
chr17	17797474	17797474	A	G	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.A4526G:p.Q1509R	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	0	1506	16	0	0	16	0.00528402	.	.	.	429945	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0244663426337	0.0007	0.000998403	0.0012	0.0001	0.0003	0	0	0.0015	0	0.0025	0.0010867	168	154602	rs140063274	0.0012	0.0012	0.0012	0.0013	0.0024	0.0012	0.0012	0.0020	0.0019	0.0001	0.0002	0.0043	0	0.0001	0.0024	0.0013	0.0009	0.0023	0.0008	0.0008	0.0008	0.0009	0.0037	0.0007	0.0007	0.0024	0.0020	0.0002	0	0.0002	0.0069	0	9.42e-05	0	0.0010	0.0019	0.0037	0.022	0.48642	D	0.087	0.40747	T	0.118	0.26577	B	0.026	0.20792	B	0.050578	0.23058	N	0.424109	0.946957	0.26615	N	0.975	0.24501	L	-0.21	0.66294	T	-0.57	0.17210	N	0.282	0.31925	-0.9608	0.39031	T	0.169	0.50858	T	10	0.0055812895	0.00123	T	0.024466	0.47458	T	0.057	0.16321	.	.	0.34333109794	0.33943	0.16386998072303055	0.16306	0.321696457852	0.34367	0.390619277954	0.23757	T	0.086222	0.37676	T	-0.505164	0.00535	T	-0.504267	0.21906	T	0.0292594626311706	0.01877	T	0.688231	0.29741	T	0.0879544	0.20501	0.09119919	0.21427	0.0784166	0.17857	0.09802022	0.23354	-3.254	0.13151	T	0.2164180584294973	0.29112	0.095	0.18372	B	.;.	.;.	1.700043	0.21653	15.29	0.99300867031191586	0.58613	0.97713	0.76598	D	AEFDBI	0.250235	0.37032	N	-0.278799195618333	0.29967	1.666701	-0.128532175059772	0.34245	1.967708	0.940066500446574	0.27415	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.03	5.03	0.67015	0.536000	0.22838	9.069000	0.78685	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.395000	0.26670	1.0:0.0:0.0:0.0	14.570	0.67800	310	0.87484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.02632	2456.33	89	chr17	17797474	.	A	G	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.278;DP=1042;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-2.291;SOR=0.678	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr17	17813664	17813664	T	C	exonic	SREBF1	.	nonsynonymous SNV	SREBF1:NM_001321096:exon17:c.A2935G:p.R979G,SREBF1:NM_004176:exon17:c.A3007G:p.R1003G,SREBF1:NM_001005291:exon18:c.A3097G:p.R1033G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00344540720494	.	.	4.908e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs554025480	5.567e-05	5.609e-05	6.36e-05	4.758e-05	0.0002	4.532e-05	4.191e-05	5.183e-05	4.753e-05	0	2.618e-05	0	0	0	0.0002	6.431e-05	3.42e-05	4.956e-05	5.255e-05	5.253e-05	7.706e-05	2.689e-05	8.819e-05	2.556e-05	1.83e-05	3.762e-05	2.575e-05	2.412e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.435	0.09401	T	0.409	0.14588	T	0.0	0.02946	B	0.0	0.01387	B	0.605071	0.10920	N	0.825638	1	0.08975	N	-0.895	0.01383	N	2.3	0.16953	T	0.19	0.04947	N	0.094	0.18784	-0.9953	0.31218	T	0.013	0.04890	T	10	0.027541637	0.00899	T	0.003445	0.07755	T	0.056	0.15993	0.181	0.08877	0.043077524339	0.03247	0.14140135368717932	0.14063	0.379206947044	0.39320	0.447664648294	0.31625	T	0.002906	0.56562	T	-0.477858	0.00761	T	-0.74017	0.03883	T	0.017018089713845	0.00451	T	0.59944	0.22338	T	0.050565574	0.09154	0.038745075	0.03811	0.050565574	0.09154	0.038745075	0.03811	-1.883	0.02775	T	.	.	0.042	0.00035	B	.;.;.;.;.	.;.;.;.;.	0.707114	0.10760	7.447	0.35872034151577697	0.02276	0.02968	0.07809	N	AEFDBCI	0.053840	0.09736	N	-1.45945811843983	0.02143	0.09432419	-1.36058054872966	0.03683	0.1722883	0.999986526714242	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.66	2.65	0.30588	0.289000	0.18713	2.031000	0.30254	-1.211000	0.01351	0.000000	0.06391	0.935000	0.28640	0.000000	0.00833	0.1545:0.6731:0.0:0.1724	5.688	0.17083	301	0.87912	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001028	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	681.81	41	chr17	17813664	.	T	C	681.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.99;SOR=1.931	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1060	18	1	0	0
chr17	18004400	18004400	A	G	exonic	DRC3	.	nonsynonymous SNV	DRC3:NM_001130092:exon10:c.A1037G:p.N346S,DRC3:NM_031294:exon10:c.A1037G:p.N346S,DRC3:NM_001130090:exon11:c.A1037G:p.N346S,DRC3:NM_001130091:exon11:c.A1037G:p.N346S	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0033221497119	0.0002	0.000798722	0.0010	0	0	0.0036	0.0007	0.0011	0.0018	0.0002	0.0004916	76	154602	rs141917632	0.0003	0.0003	0.0002	0.0003	0.0034	0.0002	0.0002	0.0029	0.0028	2.991e-05	0	0.0035	0.0034	0.0003	0.0002	8.026e-05	0.0005	5.901e-05	0.0003	0.0003	0.0002	0.0004	0.0042	0.0002	0.0002	0.0029	0.0024	2.404e-05	0	6.534e-05	0.0037	0.0042	0.0005	0	5.88e-05	0.0005	0.0002	0.756	0.03674	T	0.728	0.05363	T	0.0	0.02946	B	0.0	0.06944	B	0.004810	0.01045	N	2.318620	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.57	0.17210	N	0.039	0.01740	-1.0270	0.21429	T	0.026	0.11353	T	10	0.0047944486	0.00101	T	0.003322	0.07390	T	0.010	0.01040	.	.	0.128392430309	0.12331	0.2573174939262164	0.25645	0.135519138639	0.15275	0.324067384005	0.14037	T	0.00135	0.00824	T	-0.725674	0.00025	T	-0.821014	0.01432	T	0.0183698815962406	0.00555	T	0.521048	0.18126	T	0.018704776	0.00393	0.01884972	0.00068	0.018704776	0.00393	0.01884972	0.00068	-3.771	0.20372	T	.	.	0.061	0.03266	B	.;.;.;.	.;.;.;.	-2.596530	0.00025	0.001	0.44638926965647296	0.03446	0.01274	0.04455	N	AEFDGI	0.033834	0.04085	N	-1.80535675776474	0.00532	0.02291128	-1.88420815114268	0.00526	0.02331456	0.999548544064245	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.408882	0.06424	0	0.567892	0.33627	0	.	.	4.7	-8.57	0.00783	-2.280000	0.01239	-5.805000	0.01590	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.1712:0.2926:0.3545:0.1817	2.084	0.03420	360	0.84920	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	1110.33	34	chr17	18004400	.	A	G	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.656;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.266;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	18	0	1	0
chr17	18120185	18120185	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G1385A:p.G462D	Deafness, autosomal recessive 3, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	230690	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|MYO15A-related_disorder|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	0.00846079617299	0.0032	0.00199681	0.0036	0.0005	0.0047	0	0.0020	0.0048	0.0091	0.0019	0.0033958	525	154602	rs145292219	0.0036	0.0036	0.0036	0.0037	0.0135	0.0036	0.0035	0.0111	0.0102	0.0007	0.0043	0.0014	5.038e-05	0.0021	0.0135	0.0041	0.0035	0.0018	0.0033	0.0033	0.0030	0.0035	0.0061	0.0030	0.0029	0.0051	0.0047	0.0006	0	0.0061	0.0014	0	0.0046	0.0068	0.0044	0.0047	0.0017	0.086	0.32610	T	0.252	0.23570	T	0.11	0.26188	B	0.03	0.21741	B	.	.	.	.	0.649619	0.30545	N	1.495	0.37439	L	0.87	0.46412	T	-2.07	0.47344	N	0.453	0.56231	-1.0930	0.05051	T	0.042	0.18202	T	9	0.0044930875	0.00092	T	0.008461	0.22382	T	0.137	0.36984	.	.	0.465294738428	0.46155	0.5363742320479349	0.53562	.	.	0.619306981564	0.55631	T	0.031152	0.56248	T	-0.312222	0.07554	T	-0.220308	0.52708	T	0.00877049237361181	0.00108	T	0.711229	0.32236	T	0.13697459	0.31733	0.14230512	0.33858	0.11124209	0.26288	0.14297454	0.33994	-3.775	0.20432	T	.	.	0.499	0.64550	A	.;.;.	.;.;.	3.921901	0.57260	23.8	0.99655347948461648	0.77568	0.88578	0.48571	D	AEFDBCI	0.551489	0.56354	D	-0.229297224980632	0.31936	1.795857	-0.0328325519200769	0.38241	2.250257	0.0020970045356823	0.09151	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.4	4.43	0.52967	2.953000	0.48798	11.640000	0.93781	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0759:0.0:0.772:0.1521	8.725	0.33628	246	0.90367	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.005051	0.013587	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	3946.33	36	chr17	18120185	.	G	A	3946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.857;DP=941;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.39;SOR=0.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1118	18	0	1	0
chr17	18148792	18148792	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon32:c.G6796A:p.V2266M	Deafness, autosomal recessive 3, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	176472	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.691	.	0.0069	0.00998403	0.0081	0.0308	0.0040	0.0048	0.0071	0.0053	0.0071	0.0094	0.0044437	687	154602	rs114274755	0.0038	0.0038	0.0036	0.0039	0.0191	0.0037	0.0037	0.0179	0.0174	0.0191	0.0027	0.0018	0.0012	0.0017	0.0129	0.0031	0.0062	0.0079	0.0079	0.0079	0.0082	0.0075	0.0183	0.0075	0.0073	0.0172	0.0168	0.0183	0.0033	0.0044	0.0023	0.0042	0.0022	0.0102	0.0037	0.0099	0.0083	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.999726	0.48557	D	2.85	0.82803	M	-2.94	0.91851	D	-2.58	0.55662	D	0.256	0.48596	0.804	0.94464	D	0.828	0.94224	D	9	0.00869599	0.00197	T	.	.	.	0.691	0.88773	.	.	0.789955191066	0.78800	0.7734870707751024	0.77298	.	.	0.466697096825	0.34228	T	0.159079	0.89826	T	-0.270151	0.11740	T	-0.144573	0.59720	T	0.0186068453905915	0.00574	T	0.832317	0.50011	T	0.21298486	0.43665	0.28708565	0.54719	0.25677887	0.48718	0.29830658	0.55863	-11.467	0.82157	D	0.6535977975587219	0.72609	0.214	0.44293	B	.;.;.	.;.;.	3.896003	0.56716	23.8	0.9957329123921802	0.72561	0.94542	0.61503	D	AEFDBI	0.440353	0.49895	N	0.609228781352819	0.73758	6.018633	0.518113720952307	0.69208	5.327907	0.99869715174054	0.37477	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	3.346000	0.51907	7.578000	0.60885	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.852	0.85862	188	0.92666	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011640	0.010526	0.019022	0.002941	0.000000	0.025862	0.009202	0.003788	0.05263	1270.83	37	chr17	18148792	.	G	A	1270.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.04;DP=733;ExcessHet=0.119;FS=0.7;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.976;SOR=0.805	GT:AD:DP:GQ:PL	0/1:37,25:62:99:693,0,917	17	0	2	0
chr17	18155154	18155154	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon45:c.G8269A:p.V2757M	Deafness, autosomal recessive 3, Autosomal recessive	0	1482	37	3	0	43	0.0143	.	.	.	176616	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.276	0.258361269117	0.0014	0.00219649	0.0023	0.0004	0.0028	0.0001	0.0005	0.0021	0.0046	0.0058	0.0022186	343	154602	rs140140417	0.0019	0.0019	0.0017	0.0021	0.0147	0.0018	0.0018	0.0122	0.0113	0.0005	0.0024	0.0061	2.519e-05	0.0002	0.0147	0.0016	0.0030	0.0053	0.0016	0.0016	0.0016	0.0015	0.0043	0.0014	0.0014	0.0029	0.0024	0.0004	0	0.0025	0.0046	0.0006	0.0007	0.0136	0.0018	0.0057	0.0043	0.048	0.40068	D	0.134	0.52389	T	0.149	0.27956	B	0.01	0.14941	B	.	.	.	.	0.763895	0.29510	N	1.47	0.36993	L	-2.73	0.90679	D	-2.18	0.49187	N	0.275	0.31140	-0.1236	0.79550	T	0.531	0.82612	D	9	0.0064539015	0.00146	T	0.258361	0.89405	D	0.276	0.59253	.	.	0.600825740518	0.59764	0.4457462142118012	0.44492	.	.	0.419347465038	0.27747	T	0.046696	0.65209	T	-0.342059	0.05246	T	-0.26234	0.48590	T	0.00478396346384637	0.00051	T	0.716728	0.33194	T	0.07735013	0.17550	0.13745384	0.32854	0.06249197	0.13057	0.119086966	0.28744	-6.928	0.53507	T	0.41057589769316	0.50096	0.088	0.11893	B	.;.;.;.;.	.;.;.;.;.	2.035020	0.25866	16.92	0.83213195503592097	0.14603	0.66823	0.33213	D	AEFBI	0.174771	0.30192	N	-0.460585179935102	0.23382	1.255274	-0.505606052839797	0.22000	1.192848	0.996699927236294	0.34934	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	-0.241	0.12399	1.130000	0.31007	1.255000	0.25194	0.676000	0.76740	0.834000	0.30193	0.645000	0.25934	0.690000	0.33838	0.2809:0.0:0.5946:0.1245	6.741	0.22626	163	0.93656	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.045455	0.017663	0.017544	0.000000	0.000000	0.009146	0.011364	0.02632	1591.33	39	chr17	18155154	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.53;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.778;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	18	0	1	0
chr17	18163317	18163317	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon58:c.G9686A:p.C3229Y	Deafness, autosomal recessive 3, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	497564	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.785	0.35528390182	.	.	3.316e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs780798446	2.463e-05	2.531e-05	1.634e-05	3.3e-05	0.0003	1.803e-05	1.6e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0003	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.01	0.79402	D	0.988	0.62325	D	0.795	0.57940	P	.	.	.	.	1	0.81001	D	2.83	0.82355	M	-2.36	0.97419	D	-6.62	0.92128	D	0.69	0.83678	1.059	0.98314	D	0.931	0.97740	D	9	0.8380563	0.82960	D	0.355284	0.92374	D	0.785	0.92868	.	.	0.989045917892	0.98892	0.7913776688850059	0.79089	.	.	0.829732894897	0.86520	D	0.092506	0.87572	T	0.138993	0.68231	D	0.25807	0.86002	D	0.531602731746891	0.33793	D	0.89721	0.65919	D	0.48383254	0.66132	0.66381776	0.80293	0.48383254	0.66133	0.66381776	0.80294	-8.236	0.62667	D	0.5489053689397863	0.61772	0.725	0.84920	P	.;.;.;.;.;.	.;.;.;.;.;.	4.370279	0.67273	25.1	0.96633033210771213	0.30524	0.98760	0.86500	D	AEFDBI	0.937037	0.93424	D	0.662522801102177	0.77182	6.625595	0.666468048300261	0.79841	7.168664	0.999999980328269	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	7.808000	0.84594	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	18.419	0.90527	152	0.94023	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1796.33	33	chr17	18163317	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.831;DP=801;ExcessHet=0;FS=3.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.6;SOR=0.955	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	18245226	18245226	C	T	exonic	FLII	.	nonsynonymous SNV	FLII:NM_001256265:exon29:c.G3557A:p.R1186Q,FLII:NM_001256264:exon30:c.G3689A:p.R1230Q,FLII:NM_002018:exon30:c.G3722A:p.R1241Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0130759827302	7.7e-05	0.000199681	5.787e-05	0.0002	0	0	0	3.01e-05	0	0.0002	5.17e-05	8	154602	rs374452292	2.532e-05	2.531e-05	2.178e-05	2.889e-05	0.0002	1.868e-05	1.631e-05	8.887e-05	7.055e-05	2.987e-05	0	0	0	0	0	1.979e-05	1.656e-05	0.0002	7.875e-05	7.874e-05	6.421e-05	9.394e-05	0.0004	4.491e-05	3.508e-05	7.287e-05	4.287e-05	0.0001	0	0.0002	0	0	0	0	1.47e-05	0	0.0004	0.101	0.30375	T	0.055	0.47097	T	0.092	0.25296	B	0.021	0.19346	B	0.000359	0.45440	D	0.143577	0.942434	0.37989	D	0.52	0.13579	N	2.02	0.55266	T	-1.12	0.28906	N	0.258	0.39457	-1.0439	0.16148	T	0.060	0.24945	T	10	0.10827801	0.20150	T	0.013076	0.32199	T	0.115	0.32236	.	.	0.534093007224	0.53058	0.2518044668443479	0.25094	0.387153817608	0.40000	0.526137948036	0.42490	T	0.125215	0.45076	T	-0.537642	0.00346	T	-0.750383	0.03471	T	0.0658913229082014	0.08062	T	.	.	.	0.13003898	0.30354	0.071229376	0.15228	0.13003898	0.30354	0.071229376	0.15227	-4.991	0.36916	T	.	.	0.126	0.34227	B	.;.;.;.	.;.;.;.	4.009907	0.59151	24.1	0.99831826047233829	0.91370	0.75370	0.36899	D	AEFDBCI	0.328536	0.42917	N	-0.22816567191433	0.31982	1.79889	-0.0280565273039576	0.38453	2.265708	0.938572512861198	0.27349	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	3.53	0.39533	3.186000	0.50643	4.793000	0.44914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.6562:0.0:0.3438	7.712	0.27847	192	0.92531	.;Gelsolin-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	33	chr17	18245226	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=955;ExcessHet=0;FS=4.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.18;SOR=0.322	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr17	18316639	18316639	A	G	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.A850G:p.T284A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00245591141116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866290269	1.505e-05	1.505e-05	1.633e-05	1.375e-05	0.0003	9.85e-06	8.41e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-05	0	0	6.578e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.653	0.04802	T	0.774	0.04416	T	0.001	0.07471	B	0.001	0.04355	B	0.001040	0.40562	N	0.209748	0.848309	0.28533	N	0.665	0.16292	N	1.98	0.21865	T	-0.97	0.25770	N	0.048	0.01999	-1.0167	0.24787	T	0.040	0.17404	T	10	0.03720495	0.02062	T	0.002456	0.04840	T	0.040	0.10527	0.161	0.06507	0.137902524267	0.13322	0.2253285376348463	0.22447	0.0471783909086	0.05139	0.295840829611	0.09783	T	0.010955	0.09835	T	-0.28581	0.10061	T	-0.648323	0.09072	T	0.041994346635789	0.04054	T	.	.	.	0.059133284	0.11982	0.046758935	0.06587	0.059133284	0.11982	0.046758935	0.06587	-3.601	0.17871	T	.	.	0.062	0.01252	B	.	.	1.286576	0.16869	12.82	0.80132189964626555	0.13059	0.42272	0.26841	N	AEFBCI	0.078816	0.15910	N	-0.196783446085986	0.33268	1.88548	-0.0212028246931142	0.38759	2.288163	0.999968163279344	0.48965	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.03	4.93	0.64394	0.238000	0.17782	3.071000	0.36200	0.756000	0.94297	0.790000	0.29595	1.000000	0.68203	0.981000	0.58702	0.6763:0.1516:0.1721:0.0	5.207	0.14618	503	0.75780	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2569.33	35	chr17	18316639	.	A	G	2569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.28;DP=1358;ExcessHet=0;FS=4.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.83;SOR=0.655	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	18	0	1	0
chr17	18355980	18355980	A	T	exonic	SHMT1	.	startloss	SHMT1:NM_004169:exon2:c.T2A:p.M1?,SHMT1:NM_148918:exon2:c.T2A:p.M1?	.	430	1082	10	0	0	10	0.00459982	.	.	.	727048	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.302	0.366792957152	0.0012	0.00159744	0.0017	9.649e-05	0.0006	0	0.0002	0.0020	0.0022	0.0035	0.00163	252	154602	rs143807950	0.0013	0.0013	0.0012	0.0014	0.0097	0.0012	0.0012	0.0077	0.0070	0.0002	0.0006	0.0108	0	7.491e-05	0.0097	0.0010	0.0020	0.0037	0.0010	0.0010	0.0011	0.0010	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0044	0.0010	0.0069	0	9.42e-05	0.0068	0.0011	0.0033	0.0035	0.0	0.91255	D	0.003	0.76473	D	0.932	0.51990	P	0.888	0.63021	P	0.017431	0.27726	N	0.426630	1	0.81001	D	.	.	.	1.6	0.28604	T	0.08	0.11008	N	0.782	0.77883	-0.6305	0.63549	T	0.187	0.53676	T	9	0.0062612593	0.00329	T	0.366793	0.92648	D	0.302	0.62290	.	.	0.711987036522	0.70946	0.755027990591519	0.75449	.	.	.	.	.	0.095368	0.39606	T	-0.125489	0.32228	T	0.0445457	0.73226	D	0.0804779780247272	0.10049	T	0.9	0.65058	D	0.897815	0.91188	0.7575433	0.85673	0.897815	0.91190	0.7575433	0.85673	-10.187	0.75776	D	.	.	.	.	.	.;.;.;.	.;.;.;.	2.207519	0.28159	17.70	0.87363273167121569	0.17174	0.25323	0.22664	N	AEFBI	0.033666	0.04036	N	0.029591667677355	0.43204	2.617981	-0.0683619102116223	0.36706	2.139627	0.616448348340216	0.21847	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	1.258000	0.32547	4.376000	0.43165	0.745000	0.86679	0.109000	0.22973	1.000000	0.68203	0.032000	0.13371	1.0:0.0:0.0:0.0	14.393	0.66558	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.000000	0.010870	0.023392	0.000000	0.017241	0.003049	0.000000	0.02632	415.33	33	chr17	18355980	.	A	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.125;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.639;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	18491954	18491954	G	C	exonic	LGALS9C	.	nonsynonymous SNV	LGALS9C:NM_001040078:exon8:c.G637C:p.A213P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00678914	0.0385	0	0	0	.	0.075	0	.	0.0016905	44	26028	rs552609194	0.0094	0.0083	0.0102	0.0087	0.0086	0.0091	0.0090	0.0083	0.0081	0.0007	0.0053	0.0010	0	0.0596	0.0059	0.0086	0.0083	0.0027	0.0061	0.0090	0.0056	0.0067	0.0084	0.0055	0.0053	0.0074	0.0070	0.0004	0	0.0024	0	0.0003	0.0638	0	0.0084	0.0041	0.0027	0.185	0.21550	T	0.162	0.31225	T	0.024	0.19075	B	0.023	0.19966	B	0.161943	0.03045	N	1.742810	1	0.08975	N	0.55	0.14455	N	3.65	0.04267	T	-2.14	0.48523	N	0.096	0.10056	-0.9591	0.39349	T	0.013	0.05081	T	10	0.002552867	0.00039	T	.	.	.	0.012	0.01476	0.338	0.32816	0.082315109003	0.07666	0.13423749630695284	0.13347	.	.	0.278099834919	0.07229	T	0.025244	0.18916	T	-0.643593	0.00079	T	-0.692267	0.06258	T	0.000970885669037512	0.00009	T	.	.	.	0.15457037	0.34978	0.17447312	0.39845	0.15457037	0.34978	0.17447312	0.39844	-3.477	0.16111	T	.	.	0.092	0.15430	B	.;.;.;.	.;.;.;.	0.363857	0.07365	3.985	0.59623235249616902	0.06268	0.02121	0.06267	N	AEFI	0.114466	0.22544	N	-1.20791913335584	0.04883	0.2213574	-1.2936975738201	0.04515	0.2131434	1.11468445839869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.79	-0.34	0.12016	-0.524000	0.06309	-1.194000	0.06060	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3973:0.0:0.6026:0.0	4.156	0.09725	749	0.51929	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	79.15	2	chr17	18491954	.	G	C	79.15	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.674;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=-0.0864;MLEAC=2;MLEAF=0.091;MQ=29.57;MQRankSum=0.674;QD=13.19;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	10	0	1	8
chr17	18672876	18672876	C	A	exonic	FOXO3B	.	nonsynonymous SNV	FOXO3B:NM_001368134:exon4:c.G306T:p.E102D,FOXO3B:NM_001368135:exon4:c.G306T:p.E102D	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.877e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs760847203	7.803e-06	1.094e-05	4.211e-06	1.147e-05	0.0005	4.19e-06	3.06e-06	8.608e-05	3.581e-05	0	0	0	0	0	0.0005	5.515e-06	1.715e-05	2.487e-05	6.6e-06	6.562e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11882773	0.22473	T	.	.	.	.	.	.	.	0.661991603742	0.65915	.	.	.	.	.	.	.	.	.	.	-0.365111	0.03849	T	-0.762233	0.03033	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.051000	0.26077	16.99	0.69876757959413027	0.09113	0.03744	0.09046	N	AEFDI	0.071335	0.14196	N	.	.	.	.	.	.	8.72350367046645E-6	0.01202	0.651	0.46895	0	0.588066	0.40923	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	.	.	.	-0.096000	0.11027	1.246000	0.25138	.	.	0.000000	0.06391	1.000000	0.68203	.	.	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1132.33	34	chr17	18672876	.	C	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.624;DP=793;ExcessHet=0;FS=5.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.76;MQRankSum=-0.297;QD=10.11;ReadPosRankSum=0.272;SOR=0.491	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1212	18	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S,TRIM16L:NM_001353225:exon2:c.G100A:p.G34S,TRIM16L:NM_001353224:exon3:c.G100A:p.G34S,TRIM16L:NM_001353221:exon5:c.G406A:p.G136S,TRIM16L:NM_001353219:exon6:c.G262A:p.G88S,TRIM16L:NM_001353222:exon7:c.G100A:p.G34S,TRIM16L:NM_001353220:exon8:c.G100A:p.G34S,TRIM16L:NM_001353223:exon8:c.G100A:p.G34S	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010776	0.000000	0.013624	0.012500	0.000000	0.017241	0.012821	0.000000	0.07895	8272.79	35	chr17	18727657	.	G	A	8272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.9;DP=1254;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.66;MQRankSum=-1.753;QD=12.53;ReadPosRankSum=0.432;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1376	16	0	3	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M,FBXW10:NM_001267586:exon9:c.G1672A:p.V558M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004284	0.000000	0.005495	0.004464	0.000000	0.008929	0.003968	0.000000	0.02632	1726.33	38	chr17	18766830	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=733;ExcessHet=0;FS=3.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.88;MQRankSum=3.22;QD=16.29;ReadPosRankSum=-1.141;SOR=0.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	18	0	1	0
chr17	18772489	18772489	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon11:c.C1925T:p.T642M,FBXW10:NM_001267585:exon12:c.C2084T:p.T695M	.	430	1073	14	5	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0071	0.00119808	0.0074	0.0016	0.0040	0.0001	0.0065	0.0112	0.0132	0.0021	0.0069663	1077	154602	rs150329747	0.0087	0.0088	0.0089	0.0086	0.0101	0.0086	0.0086	0.0099	0.0099	0.0018	0.0036	0.0137	0.0002	0.0060	0.0049	0.0101	0.0081	0.0019	0.0065	0.0065	0.0071	0.0059	0.0109	0.0061	0.0060	0.0102	0.0100	0.0018	0.0044	0.0024	0.0153	0	0.0047	0.0034	0.0109	0.0052	0.0027	0.097	0.31088	T	0.105	0.38160	T	0.53	0.46172	P	0.035	0.31370	B	0.014875	0.01402	U	4.344430	1	0.08975	N	0	0.06538	N	0.35	0.59983	T	-1.29	0.35597	N	0.161	0.23884	-0.9906	0.32449	T	0.046	0.19559	T	10	0.005772084	0.00129	T	.	.	.	0.060	0.17295	.	.	0.0138822411134	0.00435	0.18173062683297633	0.18092	.	.	0.297576367855	0.10041	T	0.003381	0.02788	T	-0.602469	0.00141	T	-0.627793	0.10582	T	0.00719906712202938	0.00082	T	0.423358	0.11306	T	0.01666958	0.00214	0.027029827	0.00827	0.01666958	0.00213	0.027029827	0.00827	-5.048	0.37357	T	.	.	0.078	0.06803	B	.;.;.	.;.;.	0.066611	0.04760	1.382	0.84772125039404311	0.15488	0.02753	0.07439	N	AEFBI	0.054084	0.09803	N	-1.37356261184012	0.02887	0.1281773	-1.49044872290491	0.02422	0.1113722	8.42159322340843E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.61	-5.49	0.02381	-0.561000	0.06048	0.033000	0.13759	-2.022000	0.00435	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1019:0.2949:0.1678:0.4353	2.437	0.04212	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.002924	0.050000	0.008621	0.015244	0.000000	0.02632	606.33	43	chr17	18772489	.	C	T	606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=657;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=1.05;SOR=0.922	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	0	1	0
chr17	18778475	18778475	C	T	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267586:exon13:c.C2177T:p.A726V,FBXW10:NM_001267585:exon14:c.C2336T:p.A779V	.	.	.	.	.	.	.	.	0.9405	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0762816345085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.38e-06	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.284	0.22359	T	0.002	0.11197	B	0.001	0.12992	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	0.39	0.59176	T	-1.16	0.29727	N	0.083	0.06190	-1.0329	0.19522	T	0.092	0.35065	T	7	0.048092306	0.04213	T	0.076282	0.72493	D	0.037	0.09474	0.121	0.02793	0.0551355673512	0.04727	0.15525428449244086	0.15446	.	.	0.26736959815	0.05800	T	0.00708	0.06498	T	-0.240307	0.15308	T	-0.582961	0.14282	T	0.0259550387348338	0.01399	T	0.530047	0.17581	T	0.03245518	0.03273	0.0531972	0.08915	0.03245518	0.03273	0.0531972	0.08914	-3.285	0.13545	T	.	.	0.111	0.26669	B	.;.	.;.	1.723859	0.21947	15.42	0.78169822058956306	0.12185	0.02935	0.07754	N	AEFI	0.122915	0.23827	N	-0.489150254408019	0.22437	1.197974	-0.719783738552562	0.16468	0.8713309	1.3268735807875E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.3	1.15	0.19876	-0.244000	0.08921	0.211000	0.15962	0.201000	0.17923	0.004000	0.16614	0.007000	0.19602	0.311000	0.24761	0.2449:0.6153:0.0:0.1397	3.581	0.07505	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	33	chr17	18778475	.	C	T	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.704;DP=749;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.91;MQRankSum=-2.542;QD=6.28;ReadPosRankSum=-0.349;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr17	18978090	18978090	C	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.G1576A:p.V526I	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0058327374735	0.0022	0.000199681	0.0018	0.0002	0.0005	0	0.0003	0.0029	0.0040	0.0002	0.0017011	263	154602	rs200309310	0.0031	0.0029	0.0032	0.0030	0.0037	0.0030	0.0029	0.0036	0.0036	0.0002	0.0009	0	0.0001	0.0002	0.0019	0.0037	0.0026	0.0002	0.0015	0.0015	0.0019	0.0012	0.0030	0.0014	0.0013	0.0026	0.0025	0.0005	0	0.0005	0	0	0.0003	0	0.0030	0.0005	0.0002	0.013	0.53900	D	0.354	0.17268	T	0.007	0.14184	B	0.006	0.12133	B	0.569218	0.05470	N	1.223120	1	0.32928	N	0	0.06538	N	2.77	0.11407	T	-0.05	0.07736	N	0.084	0.06454	-0.9511	0.40782	T	0.015	0.05994	T	10	0.0060723126	0.00136	T	0.005833	0.15161	T	0.029	0.06676	.	.	0.18995819373	0.18626	0.05163928604016741	0.05105	0.144066513154	0.16265	0.279485821724	0.07421	T	0.005939	0.05383	T	-0.688783	0.00042	T	-0.76231	0.03030	T	0.00123404099061994	0.00012	T	0.382862	0.09330	T	0.06858769	0.14955	0.049354613	0.07525	0.06858769	0.14955	0.049354613	0.07524	-4.858	0.35259	T	.	.	0.084	0.09723	B	.;.	.;.	0.392663	0.07640	4.308	0.89537222967859409	0.18882	0.16592	0.19460	N	AEFDBI	0.082534	0.16712	N	-1.00057101338548	0.08593	0.4034488	-0.97545054113417	0.10338	0.520063	0.304333362804228	0.19222	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	-0.803	0.10336	0.040000	0.13791	-0.514000	0.08728	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.0:0.531:0.1242:0.3449	5.786	0.17597	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1856.33	35	chr17	18978090	.	C	T	1856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=768;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.71;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1373	18	0	1	0
chr17	19021984	19021984	C	T	exonic	GRAP	.	nonsynonymous SNV	GRAP:NM_001330148:exon4:c.G460A:p.V154I,GRAP:NM_006613:exon5:c.G629A:p.S210N	.	434	1079	8	1	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.000399361	0.0013	0	0	0	0	0.0003	0.0023	0.0107	0.0006533	101	154602	rs547412312	0.0004	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.124e-05	0.0002	0	0	0	0.0031	0.0001	0.0004	0.0052	0.0003	0.0003	0.0001	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	6.532e-05	0	0	0	0	5.879e-05	0	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001008	0.40652	N	0.272711	0.827866	0.81001	N	-0.45	0.02807	N	1.81	0.25182	T	1.19	0.01551	N	0.045	0.09066	-0.9733	0.36496	T	0.015	0.06186	T	10	0.008042216	0.00183	T	.	.	.	0.092	0.26621	0.571	0.69431	0.364926071151	0.36103	0.19471421977463813	0.19389	0.596854558386	0.54905	0.486995071173	0.37023	T	0.074936	0.35059	T	-0.645284	0.00077	T	-0.698454	0.05911	T	0.0143918073240829	0.00289	T	0.793521	0.43550	T	0.0481122	0.08333	0.052291792	0.08585	0.0481122	0.08333	0.052291792	0.08585	-3.239	0.12963	T	.	.	0.089	0.14751	B	.;.	.;.	2.360931	0.30283	18.39	0.78747688386280024	0.12435	0.60656	0.31258	D	AEFDGBCI	0.167740	0.29444	N	-0.703344632042842	0.15928	0.8070645	-0.483041738657393	0.22621	1.229542	0.997794058547809	0.36039	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.61	3.53	0.39533	2.807000	0.47652	3.939000	0.40590	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.6294:0.0:0.3706	5.496	0.16093	809	0.43032	SH3 domain|SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002033	0.000000	0.000000	0.002924	0.000000	0.000000	0.003086	0.007576	0.02632	825.33	34	chr17	19021984	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.64;DP=712;ExcessHet=0;FS=5.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.304;SOR=1.347	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1287	18	0	1	0
chr17	19556021	19556021	G	A	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon10:c.G880A:p.A294T	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.00982123049051	.	0.000399361	0.0004	0	0.0003	0.0001	0	5.996e-05	0	0.0025	0.0003363	52	154602	rs563267554	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	0.0002	0	2.519e-05	0	0.0021	3.417e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0002	0	0	0	0	8.821e-05	0.0005	0.0033	0.043	0.72154	D	0.005	0.79402	D	0.998	0.73220	D	0.899	0.65913	P	0.000000	0.84330	D	0.047729	0.999757	0.81001	D	2.325	0.66631	M	0.69	0.51714	T	-3.71	0.71397	D	0.799	0.79503	-0.4206	0.71373	T	0.309	0.67922	T	10	0.03247279	0.01400	T	0.009821	0.25608	T	0.391	0.70684	.	.	0.503744809241	0.50012	0.34828586287911073	0.34742	0.676230404005	0.59750	0.470068246126	0.34689	T	0.042113	0.72332	T	-0.0938739	0.37437	T	0.0871427	0.76054	D	0.116827600588266	0.14117	T	0.915108	0.70943	D	0.64562225	0.75130	0.73879474	0.84561	0.64562225	0.75131	0.73879474	0.84562	-8.561	0.64832	D	.	.	0.225	0.45726	B	.;.;.;.	.;.;.;.	4.651044	0.74135	26.1	0.99935201548179953	0.99579	0.96624	0.70078	D	AEFBI	0.838485	0.75600	D	0.732492398779477	0.81761	7.598788	0.722333312599581	0.84074	8.191972	0.999706608641801	0.41986	0.638212	0.43195	0	0.610034	0.51514	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.54	5.54	0.82907	4.255000	0.58595	6.320000	0.55443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	18.482	0.90766	617	0.66297	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.015152	0.02632	1120.33	34	chr17	19556021	.	G	A	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.172;DP=727;ExcessHet=0;FS=1.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-0.403;SOR=0.547	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr17	19680015	19680015	G	T	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon16:c.C1417A:p.Q473K,SLC47A2:NM_152908:exon16:c.C1525A:p.Q509K,SLC47A2:NM_001256663:exon17:c.C1459A:p.Q487K	.	.	.	.	.	.	.	.	.	.	.	3596759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00450774709564	7.7e-05	.	8.328e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs142971549	5.61e-05	5.609e-05	4.901e-05	6.326e-05	0.0003	4.61e-05	4.236e-05	6.096e-05	4.423e-05	0	0.0001	0	0	0	0.0003	6.025e-05	0.0001	0	6.572e-05	6.567e-05	8.994e-05	4.036e-05	0.0001	3.517e-05	2.617e-05	6.803e-05	5.087e-05	0	0	6.55e-05	0	0	0	0	0.0001	0	0	0.924	0.02286	T	0.923	0.02845	T	0.002	0.19075	B	0.004	0.19653	B	0.818871	0.06872	N	1.090970	1	0.08975	N	1.04	0.26193	L	1.54	0.30133	T	-0.52	0.16187	N	0.208	0.26717	-1.0120	0.26291	T	0.043	0.18659	T	10	0.052222133	0.05222	T	0.004508	0.11094	T	0.056	0.15993	.	.	0.0138822411134	0.00435	0.1268093865464099	0.12606	0.137146261983	0.15466	0.402756601572	0.25452	T	0.017065	0.13986	T	-0.336553	0.05630	T	-0.516661	0.20633	T	0.0337786920321909	0.02601	T	0.572243	0.20426	T	0.0976057	0.23010	0.0744724	0.16294	0.0976057	0.23010	0.0744724	0.16294	-5.378	0.42008	T	.	.	0.098	0.16407	B	.;.	.;.	0.210997	0.05945	2.385	0.75923407084379035	0.11264	0.08541	0.14456	N	AEFGBCI	0.040838	0.06128	N	-1.02701212127412	0.08046	0.3759021	-1.00357776444578	0.09706	0.4844615	0.0790502349993294	0.15806	0.554377	0.28877	0	0.588066	0.40923	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	4.04	3.07	0.34476	0.742000	0.25884	0.675000	0.20627	0.573000	0.29008	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.1187:0.0:0.8813:0.0	7.923	0.29019	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	834.33	90	chr17	19680015	.	G	T	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=710;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.331;SOR=1.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr17	19680020	19680020	C	T	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon16:c.G1412A:p.R471Q,SLC47A2:NM_152908:exon16:c.G1520A:p.R507Q,SLC47A2:NM_001256663:exon17:c.G1454A:p.R485Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00173780829235	.	0.000199681	3.339e-05	0.0002	8.746e-05	0	0	0	0	6.219e-05	3.23e-05	5	154602	rs563442400	2.258e-05	2.257e-05	2.723e-05	1.788e-05	0.0002	1.61e-05	1.416e-05	0.0001	7.817e-05	0.0001	0.0002	0	0	0	0	1.169e-05	1.656e-05	5.799e-05	7.885e-05	8.531e-05	7.714e-05	8.063e-05	0.0002	4.497e-05	3.512e-05	0.0001	9.922e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.614	0.05551	T	0.42	0.14116	T	0.0	0.02946	B	0.0	0.01387	B	0.959144	0.08235	N	0.978397	1	0.08975	N	0	0.06538	N	1.54	0.30133	T	0.44	0.03243	N	0.143	0.18376	-0.9782	0.35413	T	0.036	0.15683	T	10	0.022394866	0.00558	T	0.001738	0.02934	T	0.015	0.02232	0.32	0.29902	0.0138822411134	0.00435	0.08414570272253076	0.08348	0.120935417632	0.13625	0.318234145641	0.13154	T	0.017215	0.14083	T	-0.6114	0.00124	T	-0.761977	0.03042	T	0.00715039868322101	0.00082	T	0.444656	0.12411	T	0.027287785	0.01899	0.031684045	0.01792	0.027287785	0.01899	0.031684045	0.01792	-2.342	0.04790	T	.	.	0.061	0.01161	B	.;.	.;.	0.467071	0.08365	5.119	0.61279265587993559	0.06669	0.01204	0.04289	N	AEFGBCI	0.019885	0.00733	N	-1.66279889987187	0.00982	0.04257654	-1.63261336568447	0.01468	0.06642754	0.015079746485248	0.12671	0.554377	0.28877	0	0.588066	0.40923	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	4.04	1.74	0.23636	-1.688000	0.02027	-1.833000	0.04643	-1.257000	0.01296	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.6043:0.1908:0.0:0.2049	4.617	0.11817	453	0.79178	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	44	chr17	19680020	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.592;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr17	19681366	19681368	CCT	-	exonic	SLC47A2	.	frameshift deletion	SLC47A2:NM_001099646:exon15:c.1391_1392del:p.E464Gfs*2,SLC47A2:NM_152908:exon15:c.1499_1500del:p.E500Gfs*2,SLC47A2:NM_001256663:exon16:c.1433_1434del:p.E478Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.071e-06	2.052e-06	2.741e-06	1.391e-06	0.0004	5.5e-07	1.5e-07	6.169e-05	2.55e-05	0	0	0	0	0	0.0004	0	0	1.187e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1139.29	39	chr17	19681365	.	ACCT	A	1139.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=760;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.092;SOR=0.917	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1362	18	0	1	0
chr17	19712705	19712705	G	C	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon5:c.C484G:p.P162A,SLC47A2:NM_001256663:exon5:c.C484G:p.P162A,SLC47A2:NM_152908:exon5:c.C484G:p.P162A	.	.	.	.	.	.	.	.	0.0693	0.334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0169895507137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.999	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	0.999404	0.46935	D	2.285	0.65182	M	1.28	0.35960	T	-7.66	0.96426	D	0.628	0.67132	-0.5688	0.66063	T	0.232	0.59794	T	10	0.95250046	0.94592	D	0.01699	0.38500	T	0.395	0.71004	0.829	0.93915	0.187945064343	0.18414	0.6120405580100282	0.61136	0.517718159117	0.49631	0.489579796791	0.37380	T	0.224518	0.58898	T	-0.02697	0.47856	T	-0.276517	0.47161	T	0.981997787952423	0.74231	D	0.959504	0.84742	D	0.6920058	0.77620	0.51510775	0.71982	0.6920058	0.77621	0.51510775	0.71983	-15.052	0.95972	D	.	.	0.371	0.57896	A	.;.;.	.;.;.	4.273696	0.65043	24.8	0.91939877165115891	0.21265	0.96299	0.68462	D	AEFDBI	0.686319	0.64803	D	0.415100575700928	0.62251	4.438109	0.235061241834382	0.51802	3.35982	0.992413072426592	0.32831	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.04	4.04	0.46262	6.570000	0.73886	8.383000	0.77070	0.485000	0.22221	1.000000	0.71638	1.000000	0.68203	0.240000	0.23001	0.0:0.0:1.0:0.0	14.039	0.64183	440	0.80101	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	34	chr17	19712705	.	G	C	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=703;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.043;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr17	19781088	19781088	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon24:c.G2656A:p.V886M,ULK2:NM_014683:exon24:c.G2656A:p.V886M	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	.	0.0004	0.00479233	0.0025	0.0001	0.0004	0.0001	0	0.0006	0.0023	0.0153	0.0021474	332	154602	rs144113406	0.0013	0.0014	0.0009	0.0018	0.0156	0.0013	0.0013	0.0149	0.0146	0.0001	0.0004	0.0020	7.559e-05	0	0.0080	0.0003	0.0020	0.0156	0.0009	0.0009	0.0007	0.0011	0.0133	0.0007	0.0007	0.0107	0.0097	9.63e-05	0	0.0010	0.0037	0	0	0.0034	0.0005	0.0009	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000001	0.62929	D	0.056890	0.997719	0.44125	D	2.84	0.82582	M	0.12	0.61089	T	-2.43	0.53258	N	0.816	0.81162	-0.1587	0.78703	T	0.389	0.74349	T	10	0.013559639	0.00287	T	.	.	.	0.347	0.66863	.	.	0.706734743634	0.70418	0.5337172624296187	0.53296	0.236486782114	0.26189	0.718232274055	0.69789	T	0.545477	0.84513	D	-0.182455	0.23372	T	-0.0231847	0.68819	D	0.0731839727523938	0.09091	T	0.978052	0.92224	D	0.4584746	0.64576	0.49385887	0.70726	0.47474658	0.65581	0.4857415	0.70235	-10.638	0.77636	D	0.6258194583218957	0.69467	0.679	0.72087	P	.;.	.;.	4.457085	0.69330	25.4	0.99887131665444384	0.96204	0.95362	0.64424	D	AEFDBIJ	0.458072	0.50925	N	0.705483667367468	0.79992	7.19652	0.651905145771825	0.78754	6.940084	0.969231725537818	0.29113	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	4.59	0.56297	5.748000	0.68333	5.896000	0.50824	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.261	0.59537	574	0.70151	Serine/threonine-protein kinase, C-terminal;Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.004076	0.005848	0.000000	0.008621	0.012270	0.018939	0.02632	928.33	33	chr17	19781088	.	C	T	928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.565;DP=698;ExcessHet=0;FS=3.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.03;SOR=1.088	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	18	0	1	0
chr17	19783761	19783761	G	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon22:c.C2396A:p.P799H,ULK2:NM_014683:exon22:c.C2396A:p.P799H	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.043098439008	.	.	8.303e-06	0	0	0	0	0	0	6.262e-05	6.5e-06	1	154602	rs780438234	2.071e-06	2.736e-06	4.119e-06	0	3.604e-05	5.5e-07	1.5e-07	9.57e-06	4.65e-06	0	0	0	0	0	0	0	0	3.604e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.79	0.46772	L	-0.34	0.68474	T	-3.12	0.63782	D	0.643	0.66101	-0.1130	0.79798	T	0.468	0.79503	T	10	0.68520486	0.71519	D	0.043098	0.60807	D	0.369	0.68844	0.302	0.27003	0.919807746836	0.91899	0.6782809551578487	0.67767	0.494183501863	0.47986	0.585166394711	0.50813	T	0.220592	0.58392	T	0.173313	0.71427	D	0.0111751	0.71058	D	0.982239127159119	0.74371	D	0.909409	0.67928	D	0.3927715	0.60229	0.39002997	0.63808	0.3927715	0.60229	0.39002997	0.63808	-10.322	0.75817	D	0.17751360910705494	0.22706	0.244	0.50110	B	.;.	.;.	4.976677	0.82408	27.8	0.99716152938812941	0.81703	0.98996	0.89714	D	AEFBI	0.871446	0.79284	D	0.867127968629832	0.90061	10.236	0.86015182582641	0.93594	12.148	0.999998029973634	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	9.546000	0.97195	11.703000	0.94531	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.562	0.91059	582	0.69555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	890.33	33	chr17	19783761	.	G	T	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.757;DP=680;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.087;SOR=0.562	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1187	18	0	1	0
chr17	20205579	20205579	A	C	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon2:c.A1287C:p.K429N,SPECC1:NM_001033555:exon2:c.A1287C:p.K429N,SPECC1:NM_001243438:exon2:c.A1287C:p.K429N,SPECC1:NM_001033553:exon4:c.A1530C:p.K510N,SPECC1:NM_001243439:exon4:c.A1530C:p.K510N,SPECC1:NM_152904:exon4:c.A1530C:p.K510N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0654817096583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs144325201	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.479	0.20486	T	0.417	0.64738	B	0.199	0.60815	B	0.158426	0.17740	N	0.641671	0.999999	0.08975	N	2.595	0.75868	M	-0.14	0.65006	T	-3.44	0.67477	D	0.241	0.27197	-0.4866	0.69129	T	0.388	0.74305	T	10	0.12345135	0.23435	T	0.065482	0.69592	D	0.143	0.38195	0.147	0.05039	0.511220899679	0.50763	0.11480010806406164	0.11408	0.194298798218	0.21767	0.312457501888	0.12278	T	0.043719	0.26591	T	-0.231527	0.16448	T	-0.469719	0.25546	T	0.576069951057434	0.35467	D	0.859414	0.55137	D	0.037139572	0.04704	0.047859617	0.06988	0.037139572	0.04704	0.047859617	0.06987	-3.445	0.18248	T	.	.	0.163	0.45470	B	.;.;.;.;.;.	.;.;.;.;.;.	0.493344	0.08624	5.394	0.90177107134502199	0.19453	0.07377	0.13397	N	AEFGBI	0.206458	0.33271	N	-0.836923766931101	0.12375	0.602779	-1.06690386353932	0.08359	0.4106202	0.99999953579112	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.59	-6.37	0.01790	-0.124000	0.10571	-0.258000	0.10450	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.257000	0.23443	0.2892:0.1063:0.6045:0.0	11.686	0.50748	576	0.70006	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	105	chr17	20205579	.	A	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1338;ExcessHet=0;FS=2.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.92;SOR=0.895	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr17	20450108	20450108	C	G	exonic	LGALS9B	.	nonsynonymous SNV	LGALS9B:NM_001042685:exon11:c.G933C:p.L311F,LGALS9B:NM_001367292:exon11:c.G936C:p.L312F	.	584	920	11	7	0	25	0.0134048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	.	.	0.0086	0	0.0057	0	0	0.0093	0.0122	0.0234	0.0006147	16	26028	rs200390718	0.0065	0.0096	0.0063	0.0068	0.0189	0.0064	0.0063	0.0149	0.0134	0.0026	0.0071	0.0384	0.0007	0.0016	0.0189	0.0056	0.0092	0.0113	0.0034	0.0040	0.0034	0.0034	0.0095	0.0031	0.0030	0.0071	0.0063	0.0006	0	0.0018	0.0469	0	0.0001	0.0227	0.0034	0.0059	0.0095	.	.	.	0.247	0.23914	T	0.946	0.53363	P	0.538	0.48781	P	0.543193	0.05326	N	1.239310	0.999748	0.20516	N	2.125	0.59049	M	2.62	0.12988	T	.	.	.	0.112	0.10626	-1.0102	0.26854	T	0.096	0.36159	T	9	0.004126996	0.00081	T	.	.	.	0.106	0.30130	0.644	0.78117	0.0138822411134	0.00435	0.23683732164066013	0.23598	.	.	0.381931364536	0.22531	T	0.007107	0.06527	T	-0.309523	0.07790	T	-0.682385	0.06839	T	0.00844175138586903	0.00102	T	0.839416	0.51368	T	0.081202045	0.18646	0.07373707	0.16057	0.081202045	0.18645	0.07373707	0.16056	-9.659	0.72948	D	.	.	0.179	0.39012	B	.;.	.;.	1.387174	0.17995	13.49	0.99295684956269614	0.58433	0.00660	0.02859	N	AEFGI	0.027037	0.02138	N	-0.754922060876896	0.14500	0.7228018	-0.898988418607878	0.12117	0.6214781	4.73456065613091E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	1.91	0.379	0.15440	-0.402000	0.07284	-1.313000	0.05742	0.272000	0.18543	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.0:0.4423:0.0:0.5577	4.360	0.10632	814	0.42100	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008475	0.024390	0.007508	0.000000	0.000000	0.009259	0.018182	0.000000	0.05263	471.22	23	chr17	20450108	.	C	G	471.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=360;ExcessHet=0.119;FS=1.422;InbreedingCoeff=-0.0675;MLEAC=2;MLEAF=0.053;MQ=28.9;MQRankSum=-0.119;QD=11.78;ReadPosRankSum=1.03;SOR=1.085	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	17	0	2	0
chr17	21703364	21703364	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C578T:p.T193M	.	369	1150	3	0	0	3	0.00130265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356955579	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0030	0.0028	0.0035	0.0002	0	5.073e-05	0	0.0010	0.0001	0.0005	0.0001	0.0007	0.0008	0.0006	0.0008	0.0019	0.0006	0.0005	0.0016	0.0015	0.0019	0	0.0008	0	0	0	0	0.0001	0.0009	0	0.004	0.65419	D	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.02	0.96402	D	-5.83	0.88361	D	0.42	0.45992	1.094	0.99408	D	0.964	0.98844	D	10	0.22625974	0.39477	T	0.32832	0.91677	D	.	.	.	.	0.441221003447	0.43743	0.8037346935296216	0.80327	.	.	0.870696783066	0.92668	D	0.814793	0.95409	D	0.334658	0.85477	D	0.242936	0.85287	D	0.637156128883362	0.37917	D	0.936406	0.76145	D	0.58014977	0.71616	0.6659059	0.80410	0.58014977	0.71617	0.6659059	0.80411	-11.962	0.84666	D	0.795831022171912	0.87353	0.942	0.86088	P	.	.	5.516897	0.91739	32	0.999118487672363	0.98095	0.97012	0.72181	D	AEFDGBI	.	.	.	1.03482771780036	0.96719	15.052	0.938105075275716	0.97029	15.48564	1.0	0.98316	0.580535	0.33130	0	0.578056	0.33634	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.31	5.31	0.75063	4.915000	0.63054	3.295000	0.37336	0.111000	0.17629	1.000000	0.71638	0.998000	0.33993	0.386000	0.26469	0.0:1.0:0.0:0.0	18.978	0.92722	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	462.33	349	chr17	21703364	.	C	T	462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.197;DP=4341;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.83;MQRankSum=-7.136;QD=1.32;ReadPosRankSum=2.84;SOR=0.893	GT:AD:DP:GQ:PL	0/0:221,0:221:99:0,120,1800	18	0	1	0
chr17	21703441	21703441	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C655T:p.R219C	.	308	1204	10	0	0	10	0.00413565	.	.	.	442563	Thyrotoxic_periodic_paralysis,_susceptibility_to,_2	MONDO:MONDO:0013193,MedGen:C2750473,OMIM:613239,Orphanet:79102	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469374904	0.0005	0.0005	0.0005	0.0005	0.0049	0.0004	0.0004	0.0035	0.0030	0.0004	0.0010	0.0009	0.0002	1.905e-05	0.0049	0.0004	0.0013	0.0001	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0010	0.0008	9.615e-05	0	0.0014	0.0003	0.0002	9.407e-05	0	0.0004	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.22	0.96982	D	-7.7	0.95634	D	0.573	0.59563	1.088	0.99153	D	0.966	0.98907	D	10	0.7075934	0.72837	D	0.347323	0.92176	D	.	.	.	.	0.475741759771	0.47203	0.7646101655628127	0.76410	.	.	0.931935608387	0.99093	D	0.875493	0.97346	D	0.513137	0.94661	D	0.49931	0.94582	D	0.776232659816742	0.44817	D	0.994238	0.98092	D	0.8872623	0.90273	0.8198923	0.89531	0.8872623	0.90275	0.8198923	0.89532	-12.15	0.85574	D	0.9453091472675657	0.97967	0.975	0.90256	P	.	.	5.497384	0.91549	32	0.9991099010833997	0.98022	0.85857	0.45039	D	AEFDGBI	.	.	.	0.727554921786705	0.81438	7.522327	0.589379365543467	0.74175	6.092861	0.99999918003185	0.74766	0.475244	0.09938	2	0.578056	0.33634	0	0.641878	0.46077	1	0.604944	0.38103	0	.	.	5.32	3.18	0.35615	0.012000	0.13184	0.829000	0.21929	0.111000	0.17629	0.014000	0.18986	0.432000	0.24860	0.481000	0.28588	0.3807:0.6193:0.0:0.0	14.142	0.64861	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2449.33	407	chr17	21703441	.	C	T	2449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.9;DP=5457;ExcessHet=0;FS=5.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.25;MQRankSum=2.96;QD=7.44;ReadPosRankSum=-0.825;SOR=0.996	GT:AD:DP:GQ:PL	0/0:279,0:279:99:0,120,1800	18	0	1	0
chr17	21703942	21703942	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C1156T:p.R386C	.	344	1170	7	1	0	9	0.00383142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252021107	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0014	0.0011	5.982e-05	0.0002	0.0013	2.519e-05	0	0.0024	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0.0006	0	0	0	0.0004	0	0.0002	0.074	0.34621	T	0.123	0.35582	T	.	.	.	.	.	.	0.000005	0.62929	D	0.109557	0.999996	0.58761	D	.	.	.	-2.33	0.87910	D	-0.86	0.23372	N	0.29	0.32812	0.259	0.86893	D	0.657	0.88069	D	10	0.14450231	0.27421	T	0.109778	0.78688	D	.	.	.	.	0.370240404367	0.36630	0.46544014305570935	0.46463	.	.	0.715028762817	0.69321	T	0.008756	0.08018	T	0.193421	0.73278	D	0.0400596	0.72932	D	0.178382813930511	0.19133	T	0.829717	0.49530	T	0.0729738	0.16274	0.0727587	0.15734	0.0729738	0.16274	0.0727587	0.15734	-4.428	0.29934	T	.	.	0.183	0.39731	B	.	.	4.057799	0.60201	24.2	0.99885054089873804	0.96049	0.93304	0.57859	D	AEFDGBI	.	.	.	0.363552207583706	0.59459	4.125452	0.350061207184366	0.58509	4.022021	0.999999999954366	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	5.66	4.69	0.58546	2.065000	0.41068	2.719000	0.34297	0.115000	0.17631	1.000000	0.71638	0.941000	0.28781	0.120000	0.19168	0.1335:0.8664:0.0:0.0	16.227	0.82122	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2503.33	37	chr17	21703942	.	C	T	2503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=993;ExcessHet=0;FS=4.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=0.452;QD=13.83;ReadPosRankSum=0.118;SOR=0.437	GT:AD:DP:GQ:PL	0/1:86,95:181:99:2517,0,2116	18	0	1	0
chr17	22524065	22524065	G	A	exonic	MTRNR2L1	.	nonsynonymous SNV	MTRNR2L1:NM_001190452:exon1:c.G4A:p.A2T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0348602224308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.223e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.06245	T	.	.	.	.	.	.	.	.	.	.	0.639805	0.30626	N	.	.	.	.	.	.	0.85	0.01736	N	0.311	0.35088	-0.4458	0.70539	T	0.250	0.61935	T	5	0.24432483	0.41662	T	0.03486	0.55958	D	0.158	0.41098	.	.	0.0666544352282	0.05500	0.008722710939404061	0.00836	.	.	.	.	.	0.030388	0.21555	T	-0.0592103	0.43031	T	-0.322828	0.42265	T	0.457064428660477	0.31058	T	0.364364	0.08448	T	0.1597171	0.35862	0.43088055	0.66724	0.1597171	0.35862	0.43088055	0.66724	-3.423	0.15367	T	.	.	0.070	0.03515	B	.	.	1.172037	0.15621	11.98	0.85358821160681009	0.15843	0.94696	0.62016	D	AEFDJ	0.827690	0.74693	D	0.2193237866639	0.52138	3.38978	0.188992934616257	0.49243	3.129842	0.999650351644188	0.41424	0.538911	0.22237	0	0.0	0.00010	3	0.607057	0.38367	0	0.836244	0.99985	0	.	.	3.13	3.13	0.35090	9.075000	0.93411	.	.	0.469000	0.21855	1.000000	0.71638	0.527000	0.25341	0.026000	0.12556	0.0:0.0:1.0:0.0	15.086	0.71818	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	39.15	.	chr17	22524065	.	G	A	39.15	.	AC=2;AF=0.1;AN=20;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.2463;MLEAC=2;MLEAF=0.1;MQ=60;QD=19.58;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,25	9	1	0	9
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.02632	3962.33	34	chr17	27647035	.	G	T	3962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=967;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0.993;QD=13.12;ReadPosRankSum=-0.649;SOR=0.699	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1527	18	0	1	0
chr17	27781158	27781158	G	T	exonic	NOS2	.	nonsynonymous SNV	NOS2:NM_000625:exon8:c.C742A:p.P248T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.0930175520604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.465	0.92394	M	1.18	0.37746	T	-7.4	0.94758	D	0.881	0.89020	-0.0857	0.80425	T	0.351	0.71518	T	10	0.92414	0.91764	D	0.093018	0.75997	D	0.686	0.88538	0.768	0.89530	0.651368938621	0.64847	0.7543400172518011	0.75381	1.32488247794	0.83530	0.804112195969	0.82591	D	0.377127	0.74037	T	0.308527	0.83635	D	0.205401	0.83424	D	0.997575223445892	0.91888	D	0.961404	0.97335	D	0.8748188	0.89246	0.7922316	0.87784	0.8748188	0.89247	0.7922316	0.87785	-11.066	0.80019	D	.	.	0.629	0.73772	P	.;.;.	.;.;.	5.000973	0.82982	27.9	0.99716503320974548	0.81703	0.96517	0.69535	D	AEFDBCI	0.913801	0.87629	D	1.071306748593	0.97566	16.35127	1.0019701645641	0.98665	18.96326	0.999999988157218	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	10.003000	0.99689	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.513	0.90873	184	0.92813	Nitric oxide synthase, N-terminal;Nitric oxide synthase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1668.33	33	chr17	27781158	.	G	T	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=812;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.186;SOR=1.008	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr17	28163584	28163584	A	G	exonic	NLK	.	nonsynonymous SNV	NLK:NM_016231:exon5:c.A793G:p.I265V	.	433	1085	3	1	0	5	0.00229885	.	.	.	2341681	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0293693228142	0.0002	.	0.0002	0.0001	0.0001	0	0	0.0002	0	0	9.06e-05	14	154602	rs147671384	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.987e-05	0.0002	0.0034	0	0	0.0017	8.475e-05	0.0007	3.508e-05	0.0001	0.0001	0.0002	8.054e-05	0.0002	9.14e-05	7.697e-05	5.275e-05	2.832e-05	2.405e-05	0	0.0002	0.0035	0	0	0	7.35e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.969	0.56768	D	0.869	0.61749	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.675	0.16386	N	0.65	0.52642	T	-0.98	0.25986	N	0.618	0.63374	-0.7796	0.56325	T	0.171	0.51261	T	10	0.19936833	0.35942	T	0.029369	0.51889	D	0.357	0.67782	.	.	0.592739828679	0.58950	0.5807861624679654	0.58007	1.9288275753	0.93111	0.785767793655	0.79800	T	0.350615	0.71831	T	-0.157814	0.27098	T	-0.195165	0.55104	T	0.0950987979039527	0.11809	T	0.934107	0.75346	D	0.5981383	0.72591	0.5174899	0.72122	0.5981383	0.72592	0.5174899	0.72122	-9.013	0.67781	D	.	.	0.321	0.54602	B	.	.	4.547594	0.71534	25.7	0.99901950835189468	0.97350	0.99531	0.97133	D	AEFBI	0.885982	0.81697	D	0.621501192808893	0.74537	6.149457	0.670063817142424	0.80110	7.227106	0.999576536142883	0.40495	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.39	5.39	0.77615	8.863000	0.91893	11.265000	0.91209	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.879	0.70153	107	0.95615	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	732.33	37	chr17	28163584	.	A	G	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.122;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	18	0	1	0
chr17	28367878	28367898	ACGGCTGTGGCCTCGTTGTGA	-	exonic	VTN	.	nonframeshift deletion	VTN:NM_000638:exon7:c.1141_1161del:p.S381_R387del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1700.29	41	chr17	28367877	.	CACGGCTGTGGCCTCGTTGTGA	C	1700.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=1172;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.823;SOR=0.917	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	28381531	28381531	C	T	exonic	SARM1	.	nonsynonymous SNV	SARM1:NM_015077:exon2:c.C799T:p.R267W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs11658194	9.552e-05	9.44e-05	9.319e-05	9.79e-05	0.0001	8.24e-05	7.719e-05	0.0001	9.926e-05	0	0	0	0	0	0	0.0001	1.696e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.89131	.	.	.	.	.	.	.	0.8873259	0.88064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511919	0.82761	D	.	.	.	.	.	.	.	.	.	0.956004	0.83260	D	.	.	.	.	.	.	.	.	-9.525	0.71014	D	.	.	0.432	0.61295	A	.	.	3.928671	0.57408	23.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.941000	0.63241	1.124000	0.24269	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.956000	0.50813	.	.	.	127	0.94899	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1862.33	33	chr17	28381531	.	C	T	1862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.753;DP=780;ExcessHet=0;FS=5.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.564;SOR=1.132	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	18	0	1	0
chr17	28524876	28524876	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C497T:p.A166V,FOXN1:NM_001369369:exon3:c.C497T:p.A166V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	343882	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.200	0.0611247255047	7.7e-05	0.000399361	0.0004	0.0002	0	0	0	9.22e-05	0.0023	0.0022	0.0003105	48	154602	rs367793349	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	8.961e-05	6.708e-05	0	0	0	0.0017	4.497e-05	0.0003	0.0022	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	0.0001	0	0.0001	0	0.0002	0	0	0.0001	0.0019	0.0027	0.005	0.63226	D	0.277	0.21880	T	0.001	0.07471	B	0.001	0.04355	B	0.001153	0.40056	N	0.218534	1	0.08975	N	0	0.06538	N	-3.07	0.92508	D	-0.64	0.18670	N	0.097	0.08088	-0.5514	0.66734	T	0.434	0.77459	T	10	0.009364754	0.00211	T	0.061125	0.68229	D	0.200	0.48430	.	.	0.291402777868	0.28757	0.24804110477518057	0.24718	0.160597835349	0.18125	0.37772333622	0.21933	T	0.191281	0.54608	T	-0.395816	0.02466	T	-0.347814	0.39455	T	0.0912167220636261	0.11361	T	0.712229	0.32360	T	0.063355856	0.13332	0.09509642	0.22539	0.063355856	0.13331	0.09509642	0.22539	-4.856	0.35237	T	0.11467441300503492	0.10174	0.095	0.14888	B	.;.	.;.	3.153680	0.42703	21.6	0.99258675137764762	0.57121	0.24643	0.22457	N	AEFDGBI	0.035853	0.04683	N	-0.803832996934533	0.13212	0.6492877	-0.68333292965869	0.17377	0.9237241	0.999988332994896	0.51787	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.58	1.24	0.20416	2.035000	0.40776	6.525000	0.55842	-0.184000	0.09925	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.1552:0.286:0.4218:0.137	2.638	0.04663	152	0.94023	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2218.33	35	chr17	28524876	.	C	T	2218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=835;ExcessHet=0;FS=3.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.975;SOR=1.049	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr17	28616738	28616738	G	C	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon34:c.C5608G:p.L1870V,KIAA0100:NM_001363827:exon34:c.C5032G:p.L1678V,KIAA0100:NM_001363828:exon34:c.C4012G:p.L1338V,KIAA0100:NM_001321560:exon35:c.C6034G:p.L2012V,KIAA0100:NM_014680:exon35:c.C6037G:p.L2013V,KIAA0100:NM_001363829:exon36:c.C4009G:p.L1337V	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0207733650466	0.0004	.	0.0004	9.643e-05	0	0	0	0.0004	0	0.0013	0.0003299	51	154602	rs201896448	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0010	0	4.472e-05	0.0016	0	0	0.0007	8.903e-05	0.0005	0.0012	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.981e-05	2.413e-05	0	0	0.0040	0	0	0	0.0001	0.0005	0.0006	0.006	0.61437	D	0.217	0.26631	T	0.962	0.55554	D	0.611	0.51118	P	0.000000	0.84330	D	0.051565	0.999979	0.54805	D	1.93	0.51437	L	0.35	0.58029	T	-1.23	0.31170	N	0.737	0.75101	-0.6698	0.61838	T	0.238	0.60607	T	10	0.13393661	0.25490	T	0.020773	0.43429	T	0.232	0.53354	.	.	0.676123130162	0.67337	0.6295433775604794	0.62888	1.35631030607	0.84190	0.814725995064	0.84217	D	0.005212	0.21536	T	-0.169837	0.25259	T	-0.0521139	0.66878	D	0.0712289101413549	0.08822	T	0.913209	0.69728	D	0.2861887	0.51636	0.26821655	0.52688	0.2861887	0.51636	0.26821655	0.52687	-8.77	0.66204	D	.	.	0.203	0.42834	B	.;.;.	.;.;.	4.622661	0.73422	26.0	0.99375041828727151	0.61628	0.98950	0.89059	D	AEFBI	0.922633	0.89790	D	0.693583682886797	0.79212	7.030216	0.73883279930442	0.85318	8.545527	0.999999942764117	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.589000	0.81916	11.912000	0.99606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.195	0.98241	224	0.91330	FMP27,  C-terminal;FMP27,  C-terminal;FMP27,  C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	2230.33	39	chr17	28616738	.	G	C	2230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=813;ExcessHet=0;FS=2.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.348;SOR=0.946	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	28634717	28634717	G	A	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon15:c.C2441T:p.T814I,KIAA0100:NM_001363827:exon15:c.C1865T:p.T622I,KIAA0100:NM_001363828:exon15:c.C845T:p.T282I,KIAA0100:NM_001321560:exon16:c.C2870T:p.T957I,KIAA0100:NM_014680:exon16:c.C2870T:p.T957I,KIAA0100:NM_001363829:exon17:c.C845T:p.T282I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.00769537550216	0.0002	0.000199681	0.0014	0	8.637e-05	0	0.0062	0.0019	0.0011	0.0001	0.0011643	180	154602	rs118181996	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0005	0.0004	0.0004	0	0.0002	7.652e-05	2.519e-05	0.0049	0.0003	0.0004	0.0006	0.0003	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	4.813e-05	0	0.0003	0	0	0.0034	0	0.0005	0	0	0.057	0.37966	T	0.011	0.64786	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	1.83	0.25018	T	-3.02	0.62630	D	0.771	0.80083	-1.0944	0.04839	T	0.139	0.45697	T	10	0.0136065185	0.00288	T	0.007695	0.20404	T	0.320	0.64215	.	.	0.469333501611	0.46562	0.7224893496885116	0.72192	0.285678085347	0.30979	0.71693444252	0.69600	T	0.04218	0.32609	T	-0.0992911	0.36543	T	0.0440655	0.73193	D	0.097499478965396	0.12080	T	0.936306	0.76101	D	0.24607535	0.47573	0.23472165	0.48697	0.24607535	0.47573	0.23472165	0.48696	-4.301	0.28191	T	.	.	0.373	0.64408	A	.;.;.	.;.;.	4.467223	0.69576	25.4	0.9981465140443927	0.89797	0.94776	0.62290	D	AEFDBHCI	0.892642	0.82978	D	0.712917755862227	0.80479	7.30332	0.745427237338526	0.85817	8.694611	1.0	0.98316	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.460000	0.79850	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.265	0.98461	227	0.91186	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2113.33	36	chr17	28634717	.	G	A	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.737;DP=784;ExcessHet=0;FS=10.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.824;SOR=1.448	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	18	0	1	0
chr17	28717579	28717579	G	A	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.C130T:p.R44W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923884271	1.579e-06	6.156e-06	0	3.266e-06	9.785e-07	2.6e-07	1e-07	.	.	0	0	0	0	0	0	9.785e-07	1.898e-05	0	6.57e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	-0.58	0.71425	T	-4.39	0.77225	D	.	.	.	.	.	.	.	.	.	0.3780832	0.53985	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012617	0.37522	T	.	.	.	.	.	.	.	.	.	0.673133	0.29821	T	.	.	.	.	.	.	.	.	-6.091	0.47035	T	.	.	0.172	0.41977	B	.;.;.;.	.;.;.;.	1.857750	0.23599	16.08	0.89863387017469598	0.19169	0.26541	0.23022	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999815281845	0.74766	0.142881	0.03202	1	0.073863	0.01883	0	0.158946	0.03948	1	0.143876	0.04018	0	0.10647	0.23113	4.34	1.03	0.19161	1.668000	0.37097	5.463000	0.48677	-0.114000	0.14653	0.999000	0.42656	1.000000	0.68203	0.050000	0.15192	0.1855:0.0:0.3933:0.4212	3.06	0.05822	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	845.33	37	chr17	28717579	.	G	A	845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-2.128;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	18	0	1	0
chr17	28720857	28720857	A	G	exonic	RPL23A	.	nonsynonymous SNV	RPL23A:NM_000984:exon2:c.A176G:p.K59R	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.00464601190937	.	0.00119808	0.0006	0	0	0	0	3.035e-05	0	0.0039	0.0004786	74	154602	rs61738395	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	2.987e-05	0	0	0	0	0.0007	1.799e-05	0.0002	0.0036	0.0002	0.0002	8.997e-05	0.0004	0.0064	0.0002	0.0002	0.0047	0.0040	4.814e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0064	0.099	0.33753	T	0.117	0.41742	T	0.043	0.21573	B	0.111	0.31539	B	0.002228	0.36970	U	0.000000	1	0.81001	D	2.295	0.65404	M	.	.	.	-2.18	0.49187	N	0.635	0.68429	-0.5309	0.67508	T	0.321	0.69030	T	9	0.012814105	0.00274	T	0.004646	0.11503	T	0.263	0.57612	0.422	0.46529	0.511085392132	0.50748	0.3583747981476196	0.35751	0.804879020079	0.66419	0.795937776566	0.81345	T	0.338438	0.70770	T	-0.261847	0.12684	T	-0.151007	0.59154	T	0.0675412493319172	0.08302	T	0.718628	0.33447	T	0.154967	0.35047	0.1941931	0.43028	0.154967	0.35047	0.1941931	0.43027	-8.03	0.61275	D	.	.	0.114	0.30238	B	.;.;.	.;.;.	4.709559	0.75645	26.4	0.99783950973432378	0.87043	0.99170	0.92261	D	AEFBHCI	0.960441	0.98124	D	0.498297525458533	0.66989	5.022324	0.588717242793197	0.74128	6.084867	0.999999999999999	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.83	5.83	0.93059	9.163000	0.93904	9.128000	0.78864	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.382	0.74383	129	0.94817	Ribosomal protein L23/L25, N-terminal;Ribosomal protein L23/L25, N-terminal;Ribosomal protein L23/L25, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2628.33	36	chr17	28720857	.	A	G	2628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=873;ExcessHet=0;FS=0.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.4;MQRankSum=0.303;QD=12.22;ReadPosRankSum=-0.704;SOR=0.754	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	28959147	28959147	T	A	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon10:c.A1985T:p.Y662F,SEZ6:NM_001290202:exon10:c.A1610T:p.Y537F,SEZ6:NM_178860:exon10:c.A1985T:p.Y662F	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.007707941295	.	0.00159744	0.0009	0.0001	0	0	0	0	0.0023	0.0065	0.0007568	117	154602	rs374943299	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	5.974e-05	0	0	0	0	0.0005	8.095e-06	0.0005	0.0065	0.0002	0.0002	7.71e-05	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0062	0.419	0.09866	T	0.175	0.30339	T	0.996	0.68779	D	0.877	0.62241	P	0.000007	0.62929	D	0.000000	0.999324	0.81001	D	0.825	0.20901	L	2.29	0.17113	T	-2.15	0.48687	N	0.494	0.52740	-1.1185	0.02428	T	0.052	0.21999	T	10	0.011517078	0.00251	T	0.007708	0.20457	T	0.189	0.46613	0.678	0.81594	0.460438652622	0.45667	0.33188800359192644	0.33101	0.81317789327	0.66827	0.648118019104	0.59719	T	0.013957	0.32963	T	-0.45781	0.01014	T	-0.426104	0.30377	T	0.0734362730087474	0.09124	T	0.893711	0.66542	D	0.17100511	0.37708	0.08246202	0.18822	0.14914078	0.34014	0.10063566	0.24068	-8.857	0.66771	D	.	.	0.083	0.11797	B	.;.;.;.;.	.;.;.;.;.	4.700876	0.75423	26.3	0.98514131179259834	0.42386	0.95705	0.65805	D	AEFDBI	0.687980	0.64914	D	0.408046504631829	0.61862	4.393378	0.443484859860204	0.64301	4.682004	0.988393243178997	0.31502	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	4.903000	0.62964	4.057000	0.41556	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1801:0.0:0.0:0.8199	8.081	0.29908	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2191.33	35	chr17	28959147	.	T	A	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=778;ExcessHet=0;FS=14.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.454;SOR=0.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr17	28959404	28959404	C	T	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon9:c.G1840A:p.G614S,SEZ6:NM_001290202:exon9:c.G1465A:p.G489S,SEZ6:NM_178860:exon9:c.G1840A:p.G614S	.	417	1081	23	1	0	25	0.0114312	.	.	.	715334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0019	0.00359425	0.0052	0.0004	0.0006	0	0.0053	0.0032	0.0067	0.0221	0.0045666	706	154602	rs201206867	0.0030	0.0030	0.0024	0.0036	0.0209	0.0029	0.0029	0.0201	0.0197	0.0004	0.0010	0.0090	2.519e-05	0.0042	0.0071	0.0017	0.0031	0.0209	0.0023	0.0023	0.0020	0.0026	0.0184	0.0021	0.0020	0.0153	0.0142	0.0004	0	0.0016	0.0066	0.0004	0.0042	0	0.0020	0.0062	0.0184	0.989	0.02102	T	0.889	0.07666	T	0.141	0.27581	B	0.094	0.30180	B	0.002898	0.35770	N	0.261651	0.996778	0.81001	D	0.795	0.19620	N	1.41	0.33412	T	-0.4	0.13805	N	0.243	0.27435	-1.1045	0.03588	T	0.044	0.18906	T	10	0.006298989	0.00142	T	.	.	.	0.030	0.07022	.	.	0.354822389136	0.35094	0.4693041300737001	0.46849	0.303529871643	0.32676	0.397834867239	0.24768	T	0.001078	0.08170	T	-0.523335	0.00421	T	-0.508254	0.21494	T	0.00808493835329	0.00096	T	0.782022	0.41734	T	0.03338402	0.03547	0.062605314	0.12274	0.04251072	0.06460	0.063512236	0.12592	-6.083	0.46969	T	.	.	0.079	0.07650	B	.;.;.;.;.	.;.;.;.;.	2.311986	0.29597	18.17	0.69741362235256077	0.09070	0.94124	0.60185	D	AEFGBI	0.313235	0.41845	N	-0.445156418736626	0.23905	1.287015	-0.300766120914922	0.28074	1.562477	0.999999799646163	0.74766	0.626454	0.40138	0	0.550933	0.16991	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.25	4.26	0.49832	3.429000	0.52567	0.834000	0.21977	-0.190000	0.09434	0.996000	0.39380	0.284000	0.24125	0.243000	0.23080	0.0:0.9054:0.0:0.0946	11.200	0.47962	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.004076	0.014620	0.000000	0.000000	0.000000	0.015152	0.02632	3219.33	273	chr17	28959404	.	C	T	3219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=914;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.648;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr17	28963971	28963971	C	T	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon5:c.G1231A:p.V411I,SEZ6:NM_001290202:exon5:c.G856A:p.V286I,SEZ6:NM_178860:exon5:c.G1231A:p.V411I	.	.	.	.	.	.	.	.	.	.	.	727087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00139776	0.0010	0.0112	0.0006	0	0	7.381e-05	0.0014	0	0.0007697	119	154602	rs200459778	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0091	0.0104	0.0006	0	0	3.757e-05	0	7.744e-05	0.0005	1.171e-05	0.0031	0.0031	0.0033	0.0028	0.0103	0.0028	0.0027	0.0095	0.0092	0.0103	0	0.0016	0	0	0.0002	0	4.41e-05	0.0043	0	0.44	0.10623	T	0.497	0.12957	T	0.002	0.09854	B	0.002	0.10090	B	0.571176	0.11237	N	0.796894	1	0.08975	N	0.46	0.12951	N	-0.17	0.65563	T	-0.25	0.11366	N	0.095	0.10483	-1.0343	0.19078	T	0.072	0.29291	T	10	0.010964692	0.00242	T	.	.	.	0.086	0.25016	.	.	0.397691132334	0.39381	0.20600977308282206	0.20517	0.217076454146	0.24225	0.235575377941	0.02405	T	0.008425	0.15887	T	-0.554203	0.00275	T	-0.559455	0.16428	T	0.000214860476706995	0.00001	T	0.587941	0.24302	T	0.018387169	0.00360	0.024402726	0.00459	0.018387169	0.00360	0.024402726	0.00459	-2.319	0.04661	T	.	.	0.071	0.05935	B	.;.;.;.;.	.;.;.;.;.	0.615258	0.09835	6.600	0.72023327078393273	0.09829	0.04495	0.10114	N	AEFBI	0.082177	0.16638	N	-1.09938987755467	0.06655	0.3069585	-0.994247655382478	0.09913	0.4960574	0.86588875281643	0.25317	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.57	0.844	0.18083	-1.103000	0.03440	-0.686000	0.07862	-0.795000	0.03215	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.0:0.5196:0.1381:0.3424	5.694	0.17116	298	0.88068	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1380.33	38	chr17	28963971	.	C	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=832;ExcessHet=0;FS=1.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.34;SOR=0.936	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr17	29094090	29094090	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346768:exon31:c.G3337A:p.A1113T,MYO18A:NM_078471:exon31:c.G4711A:p.A1571T,MYO18A:NM_203318:exon31:c.G4711A:p.A1571T,MYO18A:NM_001346766:exon32:c.G4747A:p.A1583T,MYO18A:NM_001346765:exon33:c.G4768A:p.A1590T	.	407	1090	23	2	0	27	0.0122338	0.9997	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0015	0.00638978	0.0080	0.0007	0.0015	0	0.0005	0.0036	0.0036	0.0369	0.0047865	740	154602	rs143502477	0.0040	0.0040	0.0031	0.0049	0.0293	0.0039	0.0038	0.0283	0.0279	0.0004	0.0012	0.0091	7.659e-05	0.0007	0.0080	0.0024	0.0041	0.0293	0.0021	0.0022	0.0017	0.0025	0.0212	0.0019	0.0019	0.0179	0.0167	0.0005	0	0.0011	0.0098	0	0.0008	0	0.0021	0.0014	0.0212	0.299	0.14546	T	0.094	0.39799	T	0.377	0.34270	B	0.146	0.33945	B	0.000000	0.84330	D	0.048826	0.999996	0.81001	D	1.905	0.50856	L	-1.22	0.78752	T	-1.05	0.27463	N	0.219	0.26957	-0.5351	0.67349	T	0.288	0.65997	T	10	0.007357657	0.00167	T	0.088722	0.75188	D	0.300	0.62068	.	.	0.303871581278	0.30001	0.12059705256346016	0.11986	0.377879823805	0.39212	0.760828018188	0.76051	T	0.181998	0.53386	T	-0.314186	0.07385	T	-0.20177	0.54478	T	0.0253364573592902	0.01317	T	0.930407	0.75346	D	0.19335282	0.41041	0.17876357	0.40567	0.19335282	0.41041	0.17876357	0.40567	-8.432	0.64713	D	.	.	0.120	0.24833	B	.;.;.	.;.;.	4.697939	0.75339	26.3	0.98328900892374915	0.40319	0.98260	0.81026	D	AEFDGBI	0.727256	0.67566	D	0.0753578783592612	0.45315	2.790092	0.225876347084099	0.51289	3.312632	0.999999998581905	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	1.226000	0.32167	7.209000	0.57817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	19.240	0.93866	244	0.90442	Myosin tail;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.009537	0.017544	0.000000	0.000000	0.006098	0.022727	0.02632	1106.33	37	chr17	29094090	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.627;DP=732;ExcessHet=0;FS=5.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=1.13;SOR=1.244	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	18	0	1	0
chr17	29252194	29252194	A	G	exonic	CRYBA1	.	nonsynonymous SNV	CRYBA1:NM_005208:exon4:c.A346G:p.I116V	Cataract 10, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2113207	Cataract_10_multiple_types	MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.161	0.0131024853524	7.7e-05	0.000199681	0.0008	0	8.696e-05	0	0.0055	0.0008	0.0011	0.0003	0.0006468	100	154602	rs1129656	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0	6.708e-05	0	2.519e-05	0.0038	0.0003	0.0001	0.0004	0.0003	0.0003	0.0003	0.0001	0.0004	0.0004	0.0002	0.0002	9.052e-05	7.015e-05	0	0	6.535e-05	0	0	0.0025	0	0.0002	0	0.0004	0.568	0.06223	T	0.646	0.06836	T	0.005	0.12996	B	0.011	0.15521	B	0.000000	0.84330	D	0.044588	0.999571	0.47641	D	0.805	0.20218	L	-0.97	0.75670	T	-0.38	0.13418	N	0.279	0.31590	-0.8511	0.51891	T	0.232	0.59769	T	10	0.010830909	0.00239	T	0.013102	0.32235	T	0.161	0.41658	.	.	0.802341840766	0.80049	0.22386760990173735	0.22301	0.254691614069	0.28041	0.390503585339	0.23741	T	0.208637	0.56863	T	-0.342065	0.05246	T	-0.381957	0.35493	T	0.00936223673986832	0.00120	T	0.667933	0.27701	T	0.052600224	0.09834	0.082288586	0.18768	0.052600224	0.09834	0.082288586	0.18767	-2.579	0.06345	T	.	.	0.067	0.02399	B	.	.	1.729099	0.22006	15.44	0.84064658815101523	0.15076	0.86221	0.45460	D	AEFDBHCIJ	0.545045	0.55972	D	-0.36141044972746	0.26855	1.468893	-0.159849684574892	0.33032	1.885239	0.999999976598432	0.74766	0.525926	0.21836	0	0.600433	0.49495	0	0.615948	0.41167	0	0.691587	0.68394	0	.	.	5.78	4.71	0.59010	3.517000	0.53201	4.185000	0.42364	-0.559000	0.04861	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.848:0.0:0.152:0.0	9.574	0.38612	316	0.87161	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	919.33	33	chr17	29252194	.	A	G	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=733;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.205;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	18	0	1	0
chr17	29572494	29572494	C	T	exonic	TP53I13	.	nonsynonymous SNV	TP53I13:NM_001346079:exon5:c.C737T:p.P246L,TP53I13:NM_001346081:exon5:c.C518T:p.P173L,TP53I13:NM_001346077:exon6:c.C791T:p.P264L,TP53I13:NM_001346078:exon6:c.C791T:p.P264L,TP53I13:NM_001346082:exon6:c.C518T:p.P173L,TP53I13:NM_138349:exon6:c.C866T:p.P289L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00542418049728	.	.	4.125e-05	0	0	0	0	3.685e-05	0	0.0002	3.84e-05	1	26028	rs768099091	2.552e-05	2.599e-05	3.015e-05	2.083e-05	2.356e-05	1.883e-05	1.644e-05	3.91e-06	1.46e-06	0	2.289e-05	0.0008	0	1.949e-05	0	2.712e-06	0.0002	2.356e-05	2.627e-05	2.626e-05	0	5.378e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0.0006	0	9.407e-05	0	1.47e-05	0	0	0.005	0.63226	D	0.0	0.92824	D	0.098	0.25584	B	0.011	0.15521	B	0.060163	0.22268	N	0.417832	0.999798	0.20333	N	2.36	0.67893	M	.	.	.	-4.19	0.75615	D	0.257	0.29081	-0.9654	0.38132	T	0.110	0.39627	T	9	0.05602026	0.06214	T	0.005424	0.13923	T	0.043	0.11576	0.128	0.03331	0.0551355673512	0.04727	0.31683450023111925	0.31596	0.107435418046	0.12125	0.542133629322	0.44747	T	0.228411	0.59395	T	-0.304743	0.08219	T	-0.492128	0.23168	T	0.154887735843658	0.17486	T	0.635136	0.25918	T	0.08007951	0.18330	0.14011258	0.33408	0.08007951	0.18329	0.14011258	0.33407	-4.471	0.30507	T	.	.	0.079	0.07083	B	.;.	.;.	1.883416	0.23925	16.20	0.87059721898140774	0.16960	0.14541	0.18457	N	AEFDBHCIJ	0.113593	0.22407	N	-0.699434764338372	0.16038	0.813623	-0.776473771230688	0.15072	0.79087	0.999999859777627	0.74766	0.766844	0.99359	0	0.606735	0.50208	0	0.851219	0.99655	0	0.691587	0.68394	0	.	.	4.38	-0.0138	0.13307	0.306000	0.19030	0.376000	0.17729	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.5125:0.1794:0.3081	3.932	0.08789	80	0.96670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	732.33	42	chr17	29572494	.	C	T	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=0.838;SOR=0.839	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1298	18	0	1	0
chr17	29613563	29613563	T	G	exonic	ANKRD13B	.	nonsynonymous SNV	ANKRD13B:NM_152345:exon15:c.T1862G:p.L621R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.554577016455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.251e-06	2.052e-06	2.949e-06	1.528e-06	1.369e-05	6e-07	1.7e-07	3.2e-07	1.2e-07	0	0	0	0	0	0	1.906e-06	0	1.369e-05	6.573e-06	6.564e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.451	0.36091	B	0.169	0.35248	B	0.005962	0.32369	N	0.245812	0.999995	0.58761	D	3.29	0.90338	M	-0.62	0.71895	T	-4.36	0.76980	D	0.754	0.75283	-0.5169	0.68031	T	0.295	0.66650	T	10	0.752787	0.75760	D	0.554577	0.95908	D	0.358	0.67872	0.358	0.36060	0.84016665507	0.83863	0.879833016842829	0.87951	1.20472787136	0.80666	0.837296307087	0.87682	D	0.388447	0.74912	T	0.10284	0.64597	D	-0.0900536	0.64157	T	0.99480152130127	0.86326	D	0.865613	0.56501	D	0.63416845	0.74521	0.64362425	0.79170	0.63416845	0.74522	0.64362425	0.79171	-10.902	0.79118	D	.	.	0.686	0.72372	P	.;.	.;.	4.174413	0.62793	24.5	0.99010720224320381	0.50356	0.84894	0.43988	D	ALL	0.744699	0.68760	D	0.0474801884727228	0.44027	2.684296	0.0491362599193801	0.42030	2.535178	0.999999999999993	0.74766	0.789315	0.99827	0	0.468431	0.06638	2	0.768056	0.98339	0	0.765457	0.99879	0	.	.	5.0	2.7	0.31007	3.916000	0.56128	7.809000	0.69375	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1287:0.0722:0.0:0.7991	7.293	0.25550	82	0.96572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	381.33	34	chr17	29613563	.	T	G	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=648;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.322;SOR=0.976	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	18	0	1	0
chr17	29619147	29619147	C	T	exonic	CORO6	.	nonsynonymous SNV	CORO6:NM_032854:exon3:c.G364A:p.E122K	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0611557055763	7.9e-05	0.000399361	0.0006	0	0	0.0001	0	0.0003	0	0.0031	0.0005369	83	154602	rs372204134	0.0004	0.0004	0.0003	0.0005	0.0032	0.0004	0.0004	0.0029	0.0028	2.987e-05	0.0001	0	5.038e-05	1.88e-05	0.0003	0.0003	0.0005	0.0032	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	4.819e-05	0	0	0	0	0	0	0.0004	0	0.0025	0.005	0.63226	D	0.021	0.74150	D	0.963	0.55692	D	0.659	0.52771	P	0.028152	0.25646	N	0.436525	1	0.81001	D	0.29	0.10111	N	0.23	0.59717	T	-3.37	0.66665	D	0.54	0.59308	-0.6750	0.61602	T	0.214	0.57560	T	10	0.018567473	0.00405	T	0.061156	0.68238	D	0.308	0.62947	.	.	0.867152186934	0.86586	0.20387524896997483	0.20304	0.806922132118	0.66524	0.552653551102	0.46231	T	0.085339	0.37480	T	-0.312045	0.07569	T	-0.224998	0.52255	T	0.136068533011536	0.15932	T	0.927407	0.83911	D	.	.	.	.	.	.	.	.	-10.006	0.73948	D	.	.	0.505	0.64794	A	.;.;.;.;.;.	.;.;.;.;.;.	4.882342	0.80089	27.2	0.99188824544949661	0.54906	0.98123	0.79794	D	AEFGBHCI	0.864592	0.78343	D	0.523895000418571	0.68508	5.226654	0.594331947097193	0.74530	6.153142	0.999999999999623	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.673471	0.61138	0	0.683535	0.66460	0	.	.	5.69	5.69	0.88346	5.794000	0.68718	7.687000	0.65600	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.416	0.94688	82	0.96572	.;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1298.33	34	chr17	29619147	.	C	T	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=750;ExcessHet=0;FS=3.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.823;SOR=1.137	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr17	30053395	30053395	C	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon10:c.C1273G:p.Q425E,EFCAB5:NM_198529:exon10:c.C1441G:p.Q481E	.	421	1096	5	0	0	5	0.00227583	.	.	.	3202243	EFCAB5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00838658	0.0025	0.0194	0.0033	0	0	0.0010	0.0033	0.0003	0.0024644	381	154602	rs116666354	0.0012	0.0012	0.0013	0.0012	0.0210	0.0012	0.0012	0.0197	0.0192	0.0210	0.0032	0.0069	0	3.745e-05	0.0078	0.0005	0.0030	0.0003	0.0071	0.0071	0.0076	0.0067	0.0225	0.0068	0.0066	0.0213	0.0208	0.0225	0	0.0046	0.0084	0	0	0.0137	0.0005	0.0076	0.0004	0.968	0.02061	T	0.343	0.17857	T	0.397	0.34783	B	0.188	0.36237	B	0.894948	0.07319	N	1.063850	1	0.08975	N	0.55	0.14455	N	1.12	0.38718	T	-0.27	0.15782	N	0.146	0.22742	-1.0079	0.27572	T	0.037	0.15856	T	10	0.0040712655	0.00080	T	.	.	.	0.124	0.34239	.	.	0.405979908929	0.40213	0.20765166597981338	0.20681	0.115859512143	0.13070	0.341962754726	0.16732	T	0.00197	0.01384	T	-0.598211	0.00150	T	-0.615145	0.11572	T	0.00842134865645049	0.00102	T	0.621038	0.23867	T	0.092178434	0.21617	0.09624397	0.22860	0.092178434	0.21617	0.09624397	0.22859	-2.759	0.07812	T	.	.	0.066	0.04041	B	.;.;.	.;.;.	0.585733	0.09544	6.318	0.46269190595261023	0.03693	0.12358	0.17220	N	AEFGBI	0.115253	0.22668	N	-0.589434793974229	0.19263	1.006876	-0.560268594600865	0.20533	1.106708	0.00159163558772395	0.08681	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.18	4.15	0.47978	-0.750000	0.04913	0.720000	0.21004	0.530000	0.24713	0.000000	0.06391	0.001000	0.17328	0.974000	0.55675	0.1781:0.8219:0.0:0.0	11.550	0.49966	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.015152	0.021739	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	2134.33	34	chr17	30053395	.	C	G	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.334;DP=811;ExcessHet=0;FS=4.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.194;SOR=0.435	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	30057685	30057685	C	T	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon13:c.C2207T:p.S736L,EFCAB5:NM_198529:exon13:c.C2375T:p.S792L	.	424	1092	4	2	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	8.4e-05	0.00998403	0.0066	0.0002	0.0003	0.0002	0	0.0001	0.0034	0.0473	0.0056403	872	154602	rs201339173	0.0028	0.0028	0.0015	0.0041	0.0452	0.0027	0.0027	0.0440	0.0435	5.98e-05	0.0001	0	2.522e-05	0	0.0017	2.431e-05	0.0028	0.0452	0.0015	0.0016	0.0008	0.0023	0.0459	0.0014	0.0013	0.0409	0.0390	9.626e-05	0	0.0001	0	0.0004	0	0	5.881e-05	0.0009	0.0459	0.287	0.16038	T	0.059	0.45961	T	0.949	0.53761	P	0.492	0.47401	P	.	.	.	.	1	0.28239	N	2.045	0.56016	M	1.85	0.24472	T	-1.77	0.41809	N	0.275	0.31140	-0.9755	0.36015	T	0.172	0.51452	T	9	0.0029473603	0.00048	T	.	.	.	0.024	0.04979	.	.	0.265010934533	0.26120	0.15888957594109943	0.15809	0.0956067096189	0.10801	0.337329655886	0.16038	T	0.003895	0.03302	T	-0.610246	0.00126	T	-0.616496	0.11462	T	0.0150041687778503	0.00322	T	0.723828	0.33737	T	0.10871488	0.25705	0.12541634	0.30219	0.10871488	0.25705	0.12541634	0.30218	-5.291	0.46588	T	.	.	0.119	0.24566	B	.;.	.;.	2.633597	0.34254	19.57	0.99564832329535147	0.72014	0.12950	0.17576	N	AEFBI	0.102232	0.20512	N	-0.219775241911185	0.32323	1.821654	-0.228833537186649	0.30509	1.718327	1.49411404941383E-4	0.05573	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.4	3.4	0.38031	1.268000	0.32665	1.044000	0.23581	0.599000	0.40250	0.113000	0.23048	0.000000	0.08366	0.886000	0.42526	0.0:0.8272:0.0:0.1728	9.425	0.37740	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	395.33	38	chr17	30057685	.	C	T	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.02;DP=686;ExcessHet=0;FS=2.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-1.616;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1388	18	0	1	0
chr17	30090548	30090548	G	A	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon20:c.G3811A:p.G1271S	.	425	1089	8	0	0	8	0.00365965	.	.	.	3198748	EFCAB5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.355	0.0364205880243	0.0022	0.00259585	0.0012	0.0048	0.0027	0	0	0.0009	0.0033	0.0004	0.0012225	189	154602	rs140949092	0.0008	0.0008	0.0008	0.0008	0.0064	0.0008	0.0008	0.0055	0.0052	0.0062	0.0025	0.0069	0	3.746e-05	0.0064	0.0004	0.0021	0.0004	0.0025	0.0025	0.0028	0.0023	0.0066	0.0023	0.0022	0.0059	0.0057	0.0066	0	0.0029	0.0084	0	0	0.0034	0.0004	0.0052	0.0004	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000001	0.84330	D	0.000000	0.972053	0.81001	D	2.75	0.80375	M	2.31	0.16794	T	-4.29	0.76414	D	0.679	0.68603	-1.0270	0.21429	T	0.084	0.32900	T	10	0.005948633	0.00133	T	0.036421	0.56977	D	0.355	0.67600	.	.	0.54249775568	0.53903	0.5211032427398486	0.52033	0.484217106515	0.47341	0.489918738604	0.37426	T	0.21642	0.57857	T	-0.27691	0.10998	T	-0.16751	0.57670	T	0.0189439260601799	0.00604	T	0.831417	0.49863	T	0.40156692	0.60841	0.3700871	0.62265	0.40156692	0.60841	0.3700871	0.62265	-7.139	0.55042	T	.	.	0.247	0.48209	B	.;.	.;.	4.870869	0.79790	27.2	0.99819780516052048	0.90238	0.92052	0.54838	D	AEFBI	0.684444	0.64678	D	0.617539672603999	0.74282	6.106545	0.542312004095132	0.70863	5.56835	0.996014145800932	0.34469	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.45	4.47	0.53770	4.468000	0.59896	6.641000	0.56184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.0756:0.0:0.9244:0.0	13.716	0.62178	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.015152	0.019022	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1386.33	33	chr17	30090548	.	G	A	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=730;ExcessHet=0;FS=1.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.003;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	18	0	1	0
chr17	30185021	30185021	G	A	exonic	NSRP1	.	nonsynonymous SNV	NSRP1:NM_001261467:exon6:c.G862A:p.D288N,NSRP1:NM_032141:exon7:c.G1024A:p.D342N	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0180899245274	0.0023	0.00259585	0.0012	0.0050	0.0026	0	0	0.0009	0.0033	0.0002	0.0012484	193	154602	rs117171982	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0054	0.0051	0.0061	0.0024	0.0069	0	3.744e-05	0.0064	0.0004	0.0020	0.0003	0.0025	0.0025	0.0027	0.0023	0.0066	0.0023	0.0022	0.0059	0.0057	0.0066	0	0.0028	0.0084	0	0	0.0034	0.0004	0.0052	0.0004	0.006	0.61437	D	0.033	0.53788	D	0.799	0.44910	P	0.252	0.39069	B	0.000924	0.41028	D	0.235400	0.85171	0.28487	N	2.52	0.73523	M	0.84	0.47477	T	-0.9	0.24244	N	0.124	0.12055	-0.9984	0.30367	T	0.086	0.33494	T	10	0.0055503547	0.00123	T	0.01809	0.40035	T	0.115	0.32236	.	.	0.549332950052	0.54590	0.0354131515527406	0.03488	0.157132550826	0.17747	0.302140235901	0.10720	T	0.103263	0.41174	T	-0.572061	0.00215	T	-0.591474	0.13538	T	0.023566489899849	0.01091	T	0.679332	0.28809	T	0.062025674	0.12910	0.052379888	0.08618	0.062025674	0.12909	0.052379888	0.08617	-5.336	0.40298	T	.	.	0.097	0.35705	B	.;.	.;.	2.638352	0.34328	19.60	0.99807743995269516	0.89174	0.96224	0.68106	D	AEFBI	0.301102	0.40971	N	0.210268631861418	0.51696	3.348868	0.272704051501497	0.53950	3.561778	0.766587704281113	0.23597	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	5.08	0.68373	4.164000	0.57977	3.887000	0.40272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0807:0.0:0.9193:0.0	11.878	0.51837	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.015152	0.019022	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1471.33	70	chr17	30185021	.	G	A	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=1034;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.114;SOR=0.475	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,119,1457	18	0	1	0
chr17	30203175	30203175	T	G	exonic	SLC6A4	.	nonsynonymous SNV	SLC6A4:NM_001045:exon14:c.A1815C:p.K605N	.	426	1091	5	0	0	5	0.00228624	.	.	.	343996	not_provided|Behavior_disorder	MedGen:C3661900|MedGen:C0004930	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.255	.	0.0004	0.00858626	0.0062	0	0	0.0299	0.0443	0.0026	0.0122	0.0010	0.0052845	817	154602	rs6352	0.0031	0.0031	0.0031	0.0031	0.0381	0.0030	0.0030	0.0365	0.0358	2.991e-05	2.241e-05	0	0.0381	0.0408	0.0010	0.0005	0.0031	0.0009	0.0048	0.0049	0.0029	0.0069	0.0331	0.0046	0.0044	0.0291	0.0275	4.81e-05	0	6.534e-05	0	0.0331	0.0437	0	0.0013	0.0028	0.0012	0.145	0.25154	T	0.211	0.26631	T	0.228	0.30509	B	0.323	0.41825	B	0.000000	0.84330	D	0.089003	0.999481	0.47237	D	1.65	0.42232	L	-0.87	0.74583	T	-2.74	0.58248	D	0.587	0.60749	-1.0426	0.16532	T	0.060	0.25054	T	10	0.005604863	0.00124	T	.	.	.	0.255	0.56562	0.158	0.06178	0.280695755116	0.27685	0.8949349391608091	0.89464	1.23342835763	0.81408	0.532474398613	0.43383	T	0.731039	0.92472	D	-0.394518	0.02514	T	-0.299247	0.44803	T	0.0784977814703356	0.09795	T	0.867413	0.56831	D	0.61771274	0.73641	0.39346376	0.64065	0.53450614	0.69088	0.34594852	0.60269	-9.131	0.68536	D	0.3459608604563649	0.44346	0.486	0.63923	A	.;.;.	.;.;.	2.653941	0.34557	19.66	0.98431265892724673	0.41397	0.87794	0.47456	D	AEFGBI	0.609021	0.59838	D	-0.752430573025061	0.14566	0.7267378	-0.635461719448185	0.18584	0.9934266	0.00248460145989192	0.09470	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.17	-0.691	0.10737	0.852000	0.27417	0.119000	0.14890	-0.859000	0.02647	1.000000	0.71638	0.944000	0.28851	0.762000	0.36218	0.0:0.5208:0.0:0.4792	11.294	0.48500	616	0.66398	.;.;.	.	.	.	.	rs6352	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.02632	963.33	33	chr17	30203175	.	T	G	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.228;DP=728;ExcessHet=0;FS=6.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0.538;SOR=1.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr17	30844027	30844027	A	G	exonic	ATAD5	.	nonsynonymous SNV	ATAD5:NM_024857:exon5:c.A2356G:p.K786E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.252112587211	.	0.00119808	0.0003	0	0	0	0	0	0	0.0025	0.0002717	42	154602	rs564565220	0.0001	0.0001	5.442e-05	0.0002	0.0021	0.0001	9.623e-05	0.0018	0.0017	0	0	0	0	0	0	1.849e-06	0.0001	0.0021	0.0001	0.0001	2.569e-05	0.0002	0.0033	6.505e-05	5.317e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.0	0.91255	D	0.141	0.33442	T	1.0	0.90584	D	0.995	0.83170	D	0.332880	0.14085	N	0.717261	0.887121	0.35872	D	2.455	0.71248	M	-3.3	0.93787	D	-2.13	0.48354	N	0.263	0.29774	0.607	0.91996	D	0.838	0.94589	D	10	0.01957643	0.00439	T	0.252113	0.89159	D	0.340	0.66202	0.273	0.22369	0.700797730816	0.69820	0.22790535983258609	0.22705	0.328560466209	0.34964	0.598219394684	0.52653	T	0.358078	0.72469	T	-0.225863	0.17200	T	-0.103689	0.63110	T	0.300280090814172	0.25015	T	0.549745	0.18930	T	0.28204355	0.51244	0.2846241	0.54462	0.28204355	0.51244	0.2846241	0.54461	-4.36	0.29010	T	.	.	0.121	0.24967	B	.	.	2.979942	0.39743	21.0	0.67775615150747748	0.08456	0.91005	0.52675	D	AEFBI	0.227525	0.35132	N	0.244206437908079	0.53353	3.504543	0.137708324946844	0.46494	2.89451	0.0135049864811594	0.12473	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.67	3.46	0.38718	3.851000	0.55634	4.488000	0.43560	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.8336:0.0:0.1664:0.0	7.743	0.28019	682	0.59757	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	350.33	21	chr17	30844027	.	A	G	350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=626;ExcessHet=0;FS=1.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.79;SOR=0.914	GT:AD:DP:GQ:PL	0/0:39,0:39:90:0,90,1350	18	0	1	0
chr17	30999132	30999132	T	C	exonic	RNF135	.	nonsynonymous SNV	RNF135:NM_032322:exon5:c.T1240C:p.F414L	Macrocephaly, macrosomia, facial dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	3209618	RNF135-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.688	0.0702322157156	.	0.000199681	3.301e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs201019019	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.566e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000226	0.47286	D	0.000000	0.713625	0.81001	D	2.6	0.76081	M	-0.98	0.75789	T	-4.54	0.78472	D	0.502	0.53445	0.152	0.85085	D	0.556	0.83794	D	10	0.48778617	0.60811	T	0.070232	0.70947	D	0.688	0.88632	0.734	0.86719	0.819614843764	0.81791	0.7820619496595429	0.78157	0.509279352308	0.49067	0.581248581409	0.50262	T	0.171087	0.51908	T	-0.0648852	0.42139	T	-0.094311	0.63834	T	0.959538161754608	0.65560	D	0.686231	0.29475	T	0.8694114	0.88815	0.64855903	0.79443	0.8694114	0.88816	0.64855903	0.79444	-6.491	0.50217	T	.	.	0.969	0.89300	P	.	.	4.371280	0.67299	25.1	0.9985975934298531	0.93820	0.91537	0.53738	D	AEFDBI	0.344984	0.44029	N	0.545691029756351	0.69821	5.411687	0.459350509391075	0.65319	4.808835	0.00628665747020258	0.11177	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	3.019000	0.49318	4.603000	0.44005	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.1768:0.8232	9.558	0.38518	729	0.54495	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1102.33	33	chr17	30999132	.	T	C	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.222;DP=754;ExcessHet=0;FS=0.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.563;SOR=0.906	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr17	31318530	31318530	T	C	exonic	EVI2A	.	nonsynonymous SNV	EVI2A:NM_014210:exon2:c.A484G:p.K162E,EVI2A:NM_001003927:exon3:c.A553G:p.K185E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0144933713869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313536827	6.841e-07	6.84e-07	1.361e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.955	0.54515	P	0.763	0.56556	P	0.000159	0.49130	D	0.139198	1	0.81001	D	2.615	0.76484	M	.	.	.	-4.0	0.74051	D	0.712	0.71498	-0.5215	0.67858	T	0.281	0.65239	T	9	0.66587853	0.70423	D	0.014493	0.34641	T	0.298	0.61843	0.738	0.87063	0.183819452728	0.17975	0.3422978452765338	0.34142	0.110490903992	0.12470	0.543743014336	0.44974	T	0.362469	0.72837	T	0.0658837	0.60344	T	-0.0602738	0.66313	T	0.984052538871765	0.75497	D	0.778122	0.41194	T	0.83429456	0.86203	0.79299337	0.87831	0.83429456	0.86204	0.79299337	0.87832	-7.093	0.54710	T	.	.	0.596	0.68714	P	.;.;.;.	.;.;.;.	4.450174	0.69175	25.3	0.99877177747163015	0.95410	0.79683	0.39533	D	ALL	0.426779	0.49099	N	0.428494082916758	0.62996	4.524938	0.423456359986019	0.63028	4.528884	0.999999999986803	0.74766	0.57788	0.32782	0	0.52208	0.09955	0	0.657636	0.52715	0	0.421255	0.06892	1	.	.	5.71	4.62	0.56946	2.708000	0.46820	4.255000	0.42777	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1417:0.8583	12.298	0.54177	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	36	chr17	31318530	.	T	C	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=767;ExcessHet=0;FS=5.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.792;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1142	18	0	1	0
chr17	31530328	31530328	G	C	exonic	RAB11FIP4	.	nonsynonymous SNV	RAB11FIP4:NM_001346749:exon10:c.G876C:p.E292D,RAB11FIP4:NM_001346747:exon11:c.G1155C:p.E385D,RAB11FIP4:NM_001303542:exon12:c.G1350C:p.E450D,RAB11FIP4:NM_001346748:exon12:c.G1233C:p.E411D,RAB11FIP4:NM_032932:exon14:c.G1656C:p.E552D	.	425	1093	4	0	0	4	0.00182648	.	.	.	2350341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0110063795541	.	0.000399361	0.0003	0	0.0002	0.0001	0	0.0001	0	0.0012	0.0002458	38	154602	rs200996769	0.0001	0.0001	6.943e-05	0.0001	0.0028	8.915e-05	8.4e-05	0.0017	0.0014	0	6.708e-05	0.0002	5.038e-05	0	0.0028	1.799e-05	0.0002	0.0010	5.252e-05	5.249e-05	7.708e-05	2.686e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.989e-05	0	0	6.536e-05	0.0009	0	0	0.0034	0	0	0.0006	.	.	.	0.526	0.13441	T	0.284	0.32165	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	0.999982	0.54805	D	0.11	0.08516	N	.	.	.	.	.	.	0.722	0.76019	-1.0583	0.12184	T	0.079	0.31526	T	8	0.05828467	0.06828	T	0.011006	0.28187	T	0.186	0.46104	0.067	0.00332	0.187035705434	0.18338	0.42607643976234166	0.42524	.	.	0.812047958374	0.83805	D	0.032016	0.22299	T	-0.20249	0.20446	T	-0.104172	0.63073	T	0.0827178210020065	0.10332	T	0.822018	0.48145	T	0.124471284	0.29203	0.089198664	0.20845	0.124471284	0.29203	0.089198664	0.20844	-4.056	0.24639	T	.	.	0.188	0.40457	B	.;.	.;.	2.796367	0.36774	20.3	0.96729106835143985	0.30880	0.95523	0.65060	D	AEFBI	0.610325	0.59919	D	-0.00164200646951715	0.41781	2.505308	0.193583522181459	0.49494	3.151944	0.999259815838627	0.38906	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.8	4.75	0.59954	2.817000	0.47733	5.108000	0.47491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1437:0.0:0.8563:0.0	6.712	0.22471	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1570.33	39	chr17	31530328	.	G	C	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.308;DP=960;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=2.56;SOR=0.407	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr17	31892770	31892770	A	T	exonic	UTP6	.	nonsynonymous SNV	UTP6:NM_018428:exon5:c.T337A:p.Y113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0180708943318	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401340374	1.915e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.013	0.63109	D	0.698	0.41805	P	0.218	0.37679	B	0.000001	0.84330	D	0.095061	0.995992	0.42961	D	.	.	.	1.09	0.39223	T	-4.44	0.77637	D	0.905	0.90590	-0.9551	0.40078	T	0.088	0.34133	T	10	0.86335725	0.85567	D	0.018071	0.40007	T	0.297	0.61730	0.728	0.86198	0.608772422205	0.60562	0.686839363885071	0.68623	0.244669740564	0.26975	0.535229802132	0.43772	T	0.312874	0.68466	T	0.0991347	0.64199	D	-0.0953763	0.63754	T	0.953096270561218	0.63946	D	0.952805	0.82030	D	0.36295134	0.58060	0.2486263	0.50417	0.36295134	0.58060	0.2486263	0.50416	-9.587	0.71400	D	.	.	0.154	0.34004	B	.	.	4.275509	0.65092	24.8	0.97842726708392047	0.36338	0.96171	0.67859	D	AEFDBI	0.564741	0.57140	D	0.26744363040108	0.54506	3.616032	0.314771345379707	0.56408	3.803988	0.939588527602345	0.27393	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.57	4.46	0.53567	5.942000	0.69916	7.605000	0.61698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.6674:0.0:0.3326:0.0	3.431	0.06999	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	34	chr17	31892770	.	A	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.952;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.952;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1150	18	0	1	0
chr17	32021700	32021702	TTG	-	exonic	LRRC37B	.	nonframeshift deletion	LRRC37B:NM_052888:exon1:c.554_556del:p.V187del,LRRC37B:NM_001321350:exon4:c.308_310del:p.V105del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411692136	2.599e-05	2.599e-05	2.042e-05	3.163e-05	3.417e-05	1.932e-05	1.692e-05	2.54e-05	2.224e-05	0	0	0	0	0	0	3.417e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3146.29	33	chr17	32021699	.	TTTG	T	3146.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=808;ExcessHet=0;FS=12.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=0.74;SOR=0.942	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1350	18	0	1	0
chr17	32288819	32288819	C	T	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363834:exon2:c.C139T:p.R47C,RHBDL3:NM_001330181:exon3:c.C298T:p.R100C,RHBDL3:NM_001363835:exon4:c.C322T:p.R108C,RHBDL3:NM_001363836:exon4:c.C28T:p.R10C,RHBDL3:NM_138328:exon4:c.C322T:p.R108C	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0609019533578	.	.	8.627e-05	0	0.0001	0	0	3.443e-05	0.0013	0.0003	5.82e-05	9	154602	rs765501029	4.928e-05	4.925e-05	3.405e-05	6.467e-05	0.0005	3.995e-05	3.671e-05	0.0001	8.651e-05	2.99e-05	0	0	5.041e-05	0	0.0005	4.228e-05	6.628e-05	0.0002	3.282e-05	3.281e-05	3.854e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0004	0.013	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.37	0.68892	T	-4.94	0.81835	D	0.937	0.94314	-0.2181	0.77201	T	0.453	0.78632	T	10	0.73015594	0.74243	D	0.060902	0.68156	D	0.465	0.76089	0.545	0.65873	0.92382537496	0.92305	0.6707457618333191	0.67012	1.02830112022	0.75345	0.82300388813	0.85489	D	0.118408	0.49958	T	0.125581	0.66929	D	0.238804	0.85094	D	0.651712536811829	0.38535	D	0.976102	0.95453	D	0.5033562	0.67291	0.3997054	0.64526	0.5033562	0.67292	0.3997054	0.64526	-9.814	0.72790	D	.	.	0.399	0.67030	A	.;.;.;.	.;.;.;.	6.580935	0.95436	35	0.99941561044266847	0.99797	0.97814	0.77329	D	AEFDBIJ	0.829989	0.74879	D	0.715067869389913	0.80619	7.334778	0.725371541369525	0.84305	8.25515	1.0	0.98316	0.75658	0.98901	0	0.610034	0.51514	0	0.858454	0.99976	0	0.526803	0.08958	0	.	.	5.69	5.69	0.88346	5.731000	0.68201	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.801	0.96504	950	0.11238	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	705.33	36	chr17	32288819	.	C	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.33;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr17	32298112	32298112	A	G	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363834:exon4:c.A506G:p.N169S,RHBDL3:NM_001330181:exon5:c.A665G:p.N222S,RHBDL3:NM_001363835:exon6:c.A689G:p.N230S,RHBDL3:NM_001363836:exon6:c.A395G:p.N132S,RHBDL3:NM_138328:exon6:c.A689G:p.N230S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0447127509306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.745	0.94976	H	0.82	0.48142	T	-4.53	0.78388	D	0.924	0.93018	-0.1166	0.79714	T	0.377	0.73498	T	10	0.88302743	0.87620	D	0.044713	0.61626	D	0.608	0.84613	0.735	0.86806	0.90478473441	0.90383	0.849686074121271	0.84930	0.78196987269	0.65341	0.676357984543	0.63747	T	0.246967	0.68992	T	0.0507462	0.58440	T	-0.164883	0.57910	T	0.996544595205984	0.89565	D	0.980402	0.93314	D	0.8987555	0.91271	0.8751377	0.93223	0.8987555	0.91273	0.8751377	0.93223	-10.294	0.78695	D	.	.	0.439	0.69456	A	.;.;.;.	.;.;.;.	4.239294	0.64256	24.7	0.99895967545441078	0.96895	0.95319	0.64259	D	AEFDBCI	0.934880	0.92890	D	0.92077709813772	0.92739	11.60026	0.870530038808442	0.94155	12.546	0.999999267614062	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.72	5.72	0.89380	8.591000	0.90611	11.092000	0.85948	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.009	0.80182	968	0.07033	Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1491.33	33	chr17	32298112	.	A	G	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=766;ExcessHet=0;FS=3.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.42;SOR=0.517	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1307	18	0	1	0
chr17	32659167	32659167	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.C2293T:p.P765S,MYO1D:NM_015194:exon17:c.C2293T:p.P765S	.	430	1062	29	1	0	31	0.0143852	.	.	.	727101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.553	.	0.0058	0.00479233	0.0028	0.0117	0.0008	0.0003	0	0.0015	0.0044	0.0057	0.0026714	413	154602	rs7209106	0.0016	0.0016	0.0015	0.0018	0.0232	0.0016	0.0016	0.0200	0.0188	0.0136	0.0011	0.0008	7.557e-05	5.616e-05	0.0232	0.0009	0.0029	0.0060	0.0040	0.0040	0.0040	0.0040	0.0112	0.0038	0.0037	0.0104	0.0101	0.0112	0	0.0012	0	0.0004	0	0.0102	0.0013	0.0057	0.0054	0.125	0.27310	T	0.214	0.30143	T	0.776	0.44148	P	0.327	0.41976	B	0.001388	0.39175	U	0.000000	1	0.81001	D	2.285	0.65182	M	-2.23	0.88298	D	-4.8	0.80682	D	0.546	0.57263	0.351	0.88360	D	0.656	0.88023	D	10	0.008619487	0.00195	T	.	.	.	0.553	0.81544	.	.	0.928114125945	0.92738	0.6803579163466393	0.67974	0.425124690016	0.42928	0.49696803093	0.38405	T	0.294422	0.66710	T	-0.14127	0.29687	T	0.0353296	0.72624	D	0.0387319247505161	0.03462	T	0.946205	0.79569	D	0.16669247	0.37021	0.22630909	0.47604	0.16669247	0.37020	0.22630909	0.47603	-5.781	0.44408	T	.	.	0.277	0.54926	B	.;.;.	.;.;.	4.284750	0.65301	24.8	0.99733506155297436	0.82975	0.95800	0.66207	D	AEFGBCI	0.953144	0.96919	D	0.685769160214298	0.78699	6.924677	0.730453856576185	0.84689	8.363094	0.999999999995204	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.630245	0.45026	0	0.733575	0.97253	0	.	.	6.07	6.07	0.98675	7.973000	0.87648	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.153	0.89614	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.009511	0.011696	0.000000	0.008621	0.006098	0.000000	0.02632	1162.33	38	chr17	32659167	.	G	A	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=756;ExcessHet=0;FS=8.452;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.457;SOR=0.433	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr17	32659262	32659262	C	T	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.G2198A:p.R733H,MYO1D:NM_015194:exon17:c.G2198A:p.R733H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.0245633346357	.	.	2.471e-05	0	0	0.0001	0.0002	0	0	6.056e-05	1.94e-05	3	154602	rs755549663	3.01e-05	3.01e-05	3.131e-05	2.888e-05	0.0002	2.281e-05	2.032e-05	5.395e-05	4.042e-05	0	0	0	2.519e-05	3.744e-05	0.0002	2.518e-05	4.967e-05	0.0001	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.425e-05	0	0	0	0	0.055	0.38407	T	0.087	0.40747	T	0.999	0.77913	D	0.891	0.63213	P	0.001109	0.40219	U	0.000000	0.999922	0.51308	D	2.605	0.76211	M	-0.71	0.95561	T	-3.15	0.64132	D	0.228	0.25622	-0.2871	0.75345	T	0.429	0.77120	T	10	0.33750892	0.50872	T	0.024563	0.47547	T	0.441	0.74447	0.574	0.69826	0.934412694555	0.93373	0.7164750844942476	0.71590	0.359462052903	0.37640	0.245619416237	0.03320	T	0.419303	0.77137	T	-0.0401749	0.45922	T	-0.113957	0.62296	T	0.847255349159241	0.49931	D	0.921208	0.71541	D	0.09897008	0.23350	0.06676216	0.13721	0.09897008	0.23350	0.06676216	0.13720	-9.018	0.67813	D	.	.	0.088	0.20157	B	.;.;.	.;.;.	3.326334	0.45769	22.2	0.99923062989110889	0.98917	0.87427	0.46963	D	AEFGBCI	0.540060	0.55678	D	0.455613123898764	0.64522	4.70864	0.402556303158429	0.61723	4.376614	0.996797301961557	0.35014	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	6.07	3.04	0.34171	1.774000	0.38203	0.107000	0.14728	0.599000	0.40250	1.000000	0.71638	0.927000	0.28453	1.000000	0.97212	0.136:0.7207:0.0:0.1433	7.434	0.26317	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1769.33	38	chr17	32659262	.	C	T	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=777;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.26;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	18	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G,MYO1D:NM_001303280:exon5:c.A598G:p.S200G,MYO1D:NM_015194:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.41	33	chr17	32772809	.	T	C	92.41	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.605;DP=861;ExcessHet=0;FS=58.968;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.634;SOR=5.782	GT:AD:DP:GQ:PL	0/0:63,0:63:93:0,93,1632	18	0	1	0
chr17	34319518	34319518	C	T	exonic	CCL8	.	nonsynonymous SNV	CCL8:NM_005623:exon1:c.C17T:p.A6V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00717409678501	.	.	4.128e-05	0	0	0.0002	0	1.502e-05	0	0.0001	3.23e-05	5	154602	rs757458292	5.474e-06	6.156e-06	6.808e-06	4.126e-06	3.478e-05	2.36e-06	1.7e-06	9.24e-06	4.56e-06	2.988e-05	0	0	2.519e-05	0	0	1.799e-06	1.657e-05	3.478e-05	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.186	0.28860	T	0.204	0.29802	B	0.059	0.26602	B	0.359434	0.04294	N	1.600740	1	0.08975	N	.	.	.	4.04	0.03121	T	.	.	.	0.07	0.04307	-1.0434	0.16294	T	0.061	0.25492	T	8	0.08043036	0.13055	T	0.007174	0.19006	T	0.007	0.00512	0.464	0.53404	0.308904156042	0.30501	0.5090823965885513	0.50830	0.118362538721	0.13327	0.242052748799	0.02978	T	0.053045	0.29333	T	-0.50086	0.00565	T	-0.731526	0.04259	T	0.0689886137843132	0.08509	T	0.20198	0.02320	T	0.033388	0.03547	0.0417354	0.04812	0.033388	0.03546	0.0417354	0.04812	-5.788	0.44470	T	.	.	0.103	0.18539	B	.	.	-0.899542	0.00926	0.035	0.8444963790045632	0.15298	0.05862	0.11808	N	AEFCI	0.049480	0.08552	N	-1.33018495788611	0.03335	0.1487929	-1.49045528523526	0.02422	0.1113687	0.991059405481533	0.32357	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.75	-6.55	0.01686	-2.944000	0.00747	-3.950000	0.02433	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2817:0.2423:0.476	6.032	0.18912	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	719.33	33	chr17	34319518	.	C	T	719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.791;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	18	0	1	0
chr17	34320872	34320872	C	A	exonic	CCL8	.	nonsynonymous SNV	CCL8:NM_005623:exon3:c.C265A:p.H89N	.	392	1093	35	2	0	39	0.0175281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00239617	0.0048	0.0016	0.0034	0.0001	0.0040	0.0059	0.0100	0.0056	0.0044825	693	154602	rs117180331	0.0046	0.0046	0.0044	0.0047	0.0278	0.0045	0.0044	0.0243	0.0229	0.0017	0.0026	0.0074	7.624e-05	0.0027	0.0278	0.0047	0.0047	0.0054	0.0035	0.0035	0.0035	0.0035	0.0051	0.0032	0.0031	0.0047	0.0045	0.0013	0	0.0023	0.0066	0	0.0026	0.0240	0.0051	0.0057	0.0044	.	.	.	0.412	0.14456	T	0.022	0.18677	B	0.021	0.19346	B	0.230781	0.03517	N	1.696870	1	0.08975	N	.	.	.	3.58	0.04594	T	.	.	.	0.124	0.11626	-1.0348	0.18920	T	0.059	0.24686	T	8	0.0110735595	0.00244	T	.	.	.	0.035	0.08770	.	.	0.502191834036	0.49857	0.28196058107485844	0.28109	0.131999103059	0.14881	0.282067149878	0.07783	T	0.086521	0.37743	T	-0.711106	0.00031	T	-0.791896	0.02113	T	0.00467057206448012	0.00050	T	0.0819918	0.00602	T	0.30349264	0.53216	0.3064231	0.56667	0.30349264	0.53216	0.3064231	0.56666	-5.032	0.37186	T	.	.	0.144	0.31808	B	.	.	-0.345839	0.02423	0.273	0.85336713599012115	0.15830	0.05288	0.11132	N	AEFDI	0.079684	0.16100	N	-0.703663549196475	0.15918	0.8065266	-0.695714887143265	0.17067	0.9058338	7.93249978049868E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	3.31	0.37025	-0.741000	0.04961	-3.535000	0.02714	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.539000	0.29915	0.1745:0.7354:0.0:0.0901	6.761	0.22729	878	0.29785	Chemokine interleukin-8-like domain|Chemokine interleukin-8-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.021739	0.052632	0.100000	0.017241	0.006098	0.018939	0.05263	1696.83	34	chr17	34320872	.	C	A	1696.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.667;DP=813;ExcessHet=0.119;FS=1.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.062;SOR=0.593	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	17	0	2	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A	.	421	1083	17	1	0	19	0.00869565	.	.	.	1246008	Hearing_loss,_autosomal_recessive_99|not_provided|not_specified	MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.006793	0.005848	0.050000	0.000000	0.000000	0.007576	0.02632	1026.33	34	chr17	34626316	.	A	C	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=745;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.356;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr17	34629173	34629173	G	A	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon4:c.G1307A:p.R436Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0194949643347	.	0.000399361	2.487e-05	9.664e-05	0	0	0	3.014e-05	0	0	3.23e-05	5	154602	rs550910621	1.71e-05	1.71e-05	8.168e-06	2.613e-05	5.974e-05	1.174e-05	9.92e-06	1.093e-05	8.81e-06	5.974e-05	0	0	2.519e-05	1.873e-05	0	1.709e-05	3.312e-05	0	4.594e-05	5.249e-05	2.569e-05	6.71e-05	0.0001	2.107e-05	1.525e-05	6.266e-05	4.289e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.038	0.42783	D	0.059	0.46406	T	0.953	0.54283	P	0.363	0.43280	B	0.000119	0.50451	D	0.162113	0.930136	0.36948	D	1.11	0.28643	L	2.27	0.17431	T	-1.35	0.33598	N	0.792	0.82761	-1.0832	0.06739	T	0.031	0.13330	T	10	0.39650047	0.55264	T	0.019495	0.41878	T	0.129	0.35316	0.469	0.54214	0.139678290688	0.13603	0.48518330334782384	0.48438	0.879030477368	0.69697	0.750298261642	0.74490	T	0.006017	0.20835	T	-0.257067	0.13245	T	-0.425508	0.30446	T	0.470415025949478	0.31546	T	0.933007	0.74900	D	0.09485963	0.22311	0.091193624	0.21427	0.09485963	0.22311	0.091193624	0.21427	.	.	.	.	.	0.107	0.20038	B	.;.	.;.	4.575848	0.72242	25.8	0.9988157852539068	0.95733	0.91984	0.54689	D	AEFDBI	0.351018	0.44426	N	0.238675249232053	0.53082	3.478731	0.271730517122798	0.53896	3.556392	0.00683629680578313	0.11320	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.77	3.77	0.42499	5.304000	0.65535	9.872000	0.82135	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0986:0.0:0.9014:0.0	9.654	0.39081	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1628.33	35	chr17	34629173	.	G	A	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=770;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.215;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr17	34637507	34637507	G	A	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon9:c.G2500A:p.G834R	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00995515294654	.	.	9.604e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs780287992	1.032e-05	1.094e-05	4.103e-06	1.66e-05	0.0002	6.19e-06	4.91e-06	9.82e-05	7.861e-05	0	0	0	0	0	0	0	1.666e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.225	0.25514	T	0.022	0.18677	B	0.007	0.12992	B	0.015004	0.28367	N	0.393732	0.996684	0.43352	D	0.935	0.23595	L	2.24	0.17923	T	-1.99	0.45949	N	0.222	0.29313	-1.0762	0.08104	T	0.031	0.13242	T	10	0.12502766	0.23754	T	0.009955	0.25901	T	0.031	0.07369	0.374	0.38667	0.0846915920261	0.08053	0.5085100448541872	0.50773	1.42373316533	0.85663	0.754430174828	0.75101	T	0.009484	0.22527	T	-0.362846	0.03972	T	-0.554429	0.16902	T	0.284870535135269	0.24376	T	0.815918	0.47089	T	0.07480403	0.16812	0.23071574	0.48182	0.07480403	0.16812	0.23071574	0.48181	.	.	.	.	.	0.167	0.36732	B	.;.	.;.	3.387646	0.46888	22.4	0.99433168932899574	0.64374	0.87942	0.47660	D	AEFDBI	0.213733	0.33928	N	-0.526310562548513	0.21232	1.125286	-0.382365728687541	0.25522	1.404104	0.999998168040623	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.53	3.56	0.39892	1.383000	0.33992	6.603000	0.56063	-0.271000	0.06739	0.950000	0.33075	1.000000	0.68203	0.468000	0.28296	0.0849:0.0:0.9151:0.0	11.881	0.51853	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	34	chr17	34637507	.	G	A	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.526;SOR=0.623	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1514	18	0	1	0
chr17	34989496	34989496	C	T	exonic	LIG3	.	nonsynonymous SNV	LIG3:NM_002311:exon4:c.C722T:p.S241L,LIG3:NM_013975:exon4:c.C722T:p.S241L	.	422	1096	4	0	0	4	0.00182149	.	.	.	975834	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.0735316299849	0.0003	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0.0001	0.0002393	37	154602	rs201814781	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	5.974e-05	0.0004	3.827e-05	0	0	0.0014	0.0001	0.0003	8.116e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	7.225e-05	0	0	0	0	0	0.0034	0.0003	0.0009	0	0.079	0.33753	T	0.041	0.59732	D	0.003	0.11197	B	0.002	0.06944	B	0.052730	0.22870	N	0.470645	0.998282	0.22247	N	1.43	0.35840	L	0.13	0.69536	T	-1.62	0.38924	N	0.146	0.14763	-0.8432	0.52433	T	0.205	0.56279	T	10	0.061078012	0.07602	T	0.073532	0.71813	D	0.108	0.30607	.	.	0.317378411342	0.31341	0.2328440659221623	0.23199	0.236188989454	0.26158	0.330614924431	0.15028	T	0.352433	0.71987	T	-0.319593	0.06931	T	-0.368889	0.37018	T	0.031215805460713	0.02180	T	0.760924	0.38939	T	0.038140032	0.05025	0.063221425	0.12489	0.038140032	0.05025	0.063221425	0.12489	-5.068	0.38263	T	.	.	0.066	0.02702	B	.;.;.;.	.;.;.;.	1.698427	0.21633	15.28	0.93079444063553129	0.22698	0.59149	0.30835	D	AEFBI	0.147387	0.27105	N	-0.737749100455635	0.14967	0.7502388	-0.730641303239965	0.16200	0.8558122	0.98633644580241	0.31045	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.95	3.98	0.45383	1.571000	0.36059	1.045000	0.23589	-0.813000	0.03045	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	0.0:0.8579:0.0:0.1421	11.537	0.49894	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1447.33	36	chr17	34989496	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.275;DP=737;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.954;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr17	35101266	35101266	T	C	exonic	RAD51D	.	nonsynonymous SNV	RAD51D:NM_133629:exon6:c.A502G:p.T168A,RAD51D:NM_001142571:exon9:c.A898G:p.T300A,RAD51D:NM_002878:exon9:c.A838G:p.T280A	.	.	.	.	.	.	.	.	.	.	.	3908951	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00938743494728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.03307	T	0.779	0.04507	T	0.001	0.07471	B	0.002	0.06944	B	0.188383	0.03232	N	1.514770	1	0.08975	N	-0.755	0.01709	N	-0.16	0.65378	T	-0.55	0.16799	N	0.149	0.17691	-1.0006	0.29746	T	0.099	0.37009	T	10	0.046515435	0.03852	T	0.009387	0.24623	T	0.064	0.18567	0.489	0.57415	0.0611884634855	0.05136	0.21542534607917854	0.21458	0.363349540725	0.37963	.	.	.	0.10243	0.41014	T	-0.267241	0.12067	T	-0.62165	0.11056	T	0.0352107882499695	0.02844	T	0.243176	0.08871	T	0.018880801	0.00411	0.02026034	0.00127	0.018880801	0.00411	0.02026034	0.00127	-5.054	0.37420	T	0.10876204096161513	0.09004	0.064	0.02733	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.384704	0.02271	0.235	0.55775593273788027	0.05412	0.02326	0.06662	N	AEFBI	0.040625	0.06068	N	-1.41875428976061	0.02474	0.1093085	-1.4291746134649	0.02964	0.1373737	0.00944851161376454	0.11855	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	-3.17	0.04882	-0.920000	0.04121	-3.460000	0.02770	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.5727:0.2697:0.1575	9.105	0.35855	912	0.21483	.;.;.;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;DNA recombination and repair protein Rad51-like, C-terminal|Rad51/DMC1/RadA;.;.;DNA recombination and repair protein Rad51-like, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	684.33	34	chr17	35101266	.	T	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=712;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.875;SOR=0.547	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1478	18	0	1	0
chr17	35177511	35177511	G	A	exonic	UNC45B	.	nonsynonymous SNV	UNC45B:NM_001308281:exon14:c.G1919A:p.R640Q,UNC45B:NM_173167:exon16:c.G2162A:p.R721Q,UNC45B:NM_001033576:exon17:c.G2156A:p.R719Q,UNC45B:NM_001267052:exon17:c.G2156A:p.R719Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	2099474	UNC45B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.516	.	.	0.0129792	0.0110	0	0.0017	0.0012	0	9.402e-05	0.0038	0.0341	0.0033829	523	154602	rs202199748	0.0020	0.0020	0.0011	0.0029	0.0322	0.0019	0.0019	0.0311	0.0307	9.352e-05	5.325e-05	0	8.191e-05	0	0.0019	5.531e-05	0.0027	0.0322	0.0013	0.0013	0.0009	0.0017	0.0393	0.0011	0.0011	0.0347	0.0329	4.816e-05	0	0	0	0.0004	0	0	4.41e-05	0	0.0393	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.974	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.27	0.90083	M	3.69	0.47477	T	-3.5	0.68178	D	0.927	0.93135	-0.0441	0.81331	T	0.405	0.75529	T	10	0.010255188	0.00229	T	.	.	.	0.516	0.79340	.	.	0.882103484673	0.88095	0.7315448376757215	0.73099	0.537137804364	0.51028	0.658396363258	0.61179	T	0.664888	0.89987	D	-0.136014	0.30528	T	0.0555331	0.73948	D	0.119878280349495	0.14418	T	0.941806	0.78262	D	0.8181357	0.85095	0.70836353	0.82802	0.8188416	0.85143	0.7234128	0.83666	-7.19	0.56337	T	0.694965345589585	0.77318	0.478	0.63547	A	.;.;.	.;.;.	4.914243	0.80885	27.4	0.99944294302071124	0.99868	0.99612	0.97981	D	AEFDBI	0.895738	0.83608	D	0.983720826609268	0.95223	13.41908	0.907224901703452	0.95881	14.06434	0.99999997169958	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	9.614000	0.97785	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0:0.0:1.0:0.0	18.128	0.89522	907	0.22727	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004559	0.000000	0.001374	0.008824	0.000000	0.000000	0.000000	0.018939	0.02632	1258.33	36	chr17	35177511	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.129;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.957;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1349	18	0	1	0
chr17	35180654	35180654	G	A	exonic	UNC45B	.	nonsynonymous SNV	UNC45B:NM_001308281:exon15:c.G2114A:p.C705Y,UNC45B:NM_173167:exon17:c.G2357A:p.C786Y,UNC45B:NM_001033576:exon18:c.G2351A:p.C784Y,UNC45B:NM_001267052:exon18:c.G2351A:p.C784Y	.	414	1103	5	0	0	5	0.00226142	.	.	.	1225676	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.745	.	0.0030	0.023762	0.0107	0.0069	0.0011	0.0193	0	0.0005	0.0100	0.0604	0.0095406	1475	154602	rs76329788	0.0047	0.0047	0.0034	0.0060	0.0533	0.0046	0.0046	0.0520	0.0515	0.0085	0.0012	0.0012	0.0232	1.873e-05	0.0044	0.0004	0.0073	0.0533	0.0053	0.0053	0.0041	0.0065	0.0605	0.0050	0.0048	0.0548	0.0526	0.0072	0	0.0022	0.0012	0.0269	0	0.0068	0.0003	0.0033	0.0605	0.002	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.76	0.49919	T	-7.37	0.94674	D	0.355	0.80866	-0.1760	0.78281	T	0.254	0.62383	T	10	0.011082709	0.00244	T	.	.	.	0.745	0.91198	.	.	.	.	0.7840028117147326	0.78351	0.612468718494	0.55841	0.8425822258	0.88488	D	0.714647	0.91887	D	-0.0442878	0.45310	T	0.206102	0.83460	D	0.0627514069092242	0.07595	T	0.90211	0.65873	D	0.85159445	0.87454	0.9096035	0.95660	0.8794055	0.89619	0.9096035	0.95661	-9.826	0.74835	D	0.8571586178088251	0.92168	0.959	0.87984	P	.;.;.	.;.;.	5.024228	0.83521	28.1	0.99784401922960819	0.87043	0.98847	0.87641	D	AEFBI	0.963432	0.98532	D	0.971332894453595	0.94793	13.04486	0.901363871209942	0.95632	13.810	0.99999952678046	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	9.869000	0.98464	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.734	0.88294	907	0.22727	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009082	0.015152	0.010870	0.005848	0.000000	0.008621	0.000000	0.018939	0.02632	1029.33	33	chr17	35180654	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.573;DP=720;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.699;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	18	0	1	0
chr17	35352810	35352810	T	C	exonic	SLFN11	.	nonsynonymous SNV	SLFN11:NM_152270:exon5:c.A2252G:p.N751S,SLFN11:NM_001104589:exon6:c.A2252G:p.N751S,SLFN11:NM_001376009:exon6:c.A2252G:p.N751S,SLFN11:NM_001376012:exon6:c.A2252G:p.N751S,SLFN11:NM_001104587:exon7:c.A2252G:p.N751S,SLFN11:NM_001104588:exon7:c.A2252G:p.N751S,SLFN11:NM_001104590:exon7:c.A2252G:p.N751S,SLFN11:NM_001376007:exon7:c.A2252G:p.N751S,SLFN11:NM_001376008:exon7:c.A2252G:p.N751S,SLFN11:NM_001376010:exon7:c.A2252G:p.N751S,SLFN11:NM_001376011:exon7:c.A2252G:p.N751S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0221755007192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.016	0.60972	D	0.477	0.36687	P	0.143	0.33763	B	0.231101	0.15919	N	0.559801	1	0.08975	N	1.875	0.49914	L	-1.53	0.81559	D	-3.6	0.69357	D	0.078	0.05287	-0.5139	0.68143	T	0.406	0.75593	T	10	0.1593906	0.29949	T	0.022176	0.45042	T	0.251	0.56024	0.536	0.64585	0.450928719235	0.44716	0.056984182562273375	0.05639	0.027753706553	0.02844	0.345785915852	0.17299	T	0.079109	0.36050	T	-0.143968	0.29260	T	-0.444576	0.28296	T	0.207722022828871	0.20833	T	0.530647	0.17608	T	0.06735689	0.14579	0.07932416	0.17847	0.06735689	0.14578	0.07932416	0.17846	-5.777	0.44373	T	.	.	0.095	0.15385	B	.;.	.;.	1.223254	0.16175	12.37	0.95740043064509539	0.27695	0.10450	0.15953	N	AEFDBIJ	0.063058	0.12162	N	-0.539216458381721	0.20823	1.100612	-0.703078035543693	0.16883	0.8952648	9.46476103149531E-4	0.08042	0.706548	0.73137	0	0.659912	0.62753	0	0.624306	0.44879	0	0.714379	0.83352	0	.	.	4.0	1.65	0.23015	0.422000	0.21016	0.737000	0.21131	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1945:0.0:0.2026:0.603	4.603	0.11753	554	0.71839	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	72.33	34	chr17	35352810	.	T	C	72.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.319;DP=848;ExcessHet=0;FS=101.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.76;SOR=6.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	18	0	1	0
chr17	35440954	35440954	T	C	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon6:c.A2335G:p.I779V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0113268709725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.324	0.18903	T	0.062	0.36338	B	0.024	0.38015	B	0.984036	0.08075	N	0.990994	1	0.08975	N	2.18	0.61292	M	-1.51	0.81399	D	-0.42	0.14193	N	0.079	0.07125	-0.6663	0.61995	T	0.407	0.75649	T	10	0.08332169	0.13847	T	0.011327	0.28845	T	0.181	0.45247	0.427	0.47350	0.152612264143	0.14878	0.05224870939930665	0.05166	0.0499660560402	0.05486	0.327174127102	0.14507	T	0.001717	0.01139	T	-0.136935	0.30378	T	-0.434474	0.29428	T	0.120083633573969	0.14438	T	0.362864	0.08399	T	0.04477355	0.07216	0.041635297	0.04775	0.04477355	0.07216	0.041635297	0.04775	-3.412	0.18002	T	.	.	0.101	0.20819	B	.;.;.;.;.	.;.;.;.;.	-0.095854	0.03667	0.737	0.3437905130953095	0.02100	0.04724	0.10419	N	AEFBI	0.088890	0.18020	N	-0.852996777156631	0.11976	0.5810463	-1.02390918493122	0.09260	0.4597024	1.1276770909484E-4	0.05269	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	3.26	-1.21	0.09033	0.342000	0.19669	-2.668000	0.03487	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.196:0.0:0.3867:0.4173	4.157	0.09733	406	0.82375	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3389.33	33	chr17	35440954	.	T	C	3389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.443;DP=861;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.651;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr17	35441350	35441350	G	A	exonic	SLFN13	.	stopgain	SLFN13:NM_144682:exon6:c.C1939T:p.R647X	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.00179712	0.0014	0.0028	0.0006	0	0.0006	0.0016	0	0.0013	0.0012678	196	154602	rs115704442	0.0014	0.0014	0.0013	0.0014	0.0054	0.0013	0.0013	0.0039	0.0034	0.0034	0.0006	0.0004	0	0.0002	0.0054	0.0014	0.0016	0.0016	0.0017	0.0017	0.0017	0.0017	0.0030	0.0015	0.0015	0.0026	0.0024	0.0030	0	0.0005	0.0006	0.0002	0.0005	0.0034	0.0017	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.059389	0.02121	N	2.112190	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.058	0.03175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0407454	0.45839	T	0.166906	0.81223	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant;Tolerant;.;Tolerant	High;High;High;.;High	6.118211	0.94602	34	0.92397662470852138	0.21809	0.02752	0.07437	N	AEFBI	0.061854	0.11854	N	-0.290758380859022	0.29504	1.63675	-0.760133789046788	0.15474	0.8139838	0.00566176935172161	0.11008	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.29	-5.7	0.02226	-0.167000	0.09928	-3.580000	0.02681	-0.304000	0.06167	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.1104:0.1463:0.2436:0.4997	2.269	0.03836	400	0.82730	Domain of unknown function DUF2075;Domain of unknown function DUF2075;Domain of unknown function DUF2075;.;Domain of unknown function DUF2075	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	41	chr17	35441350	.	G	A	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=1389;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.29;MQRankSum=-1.141;QD=12.2;ReadPosRankSum=-0.532;SOR=0.643	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	18	0	1	0
chr17	35441716	35441716	C	T	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon5:c.G1769A:p.R590H	.	447	1072	3	0	0	3	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00716182888017	.	.	8.748e-05	0	0	0.0005	0	9.017e-05	0	0	3.84e-05	1	26028	rs200955907	0.0001	0.0014	0.0001	0.0001	0.0004	9.765e-05	9.233e-05	0.0002	0.0002	3.139e-05	9.476e-05	0	2.545e-05	0	0	0.0001	6.805e-05	0.0004	0.0004	0.0017	0.0003	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0002	0.0012	0.0008	0	0.0004	0.0004	0	0.0004	0	0.0011	0.153	0.24372	T	0.476	0.14456	T	0.999	0.77913	D	0.98	0.74843	D	0.881109	0.07236	N	1.061880	1	0.08975	N	1.095	0.27400	L	4.46	0.03597	T	-1.18	0.30140	N	0.075	0.05037	-0.9299	0.44153	T	0.018	0.07565	T	10	0.04112664	0.02741	T	0.007162	0.18979	T	0.045	0.12272	.	.	0.356281029322	0.35234	0.1888479518877513	0.18802	2.17442915589	0.95526	0.260066837072	0.04898	T	0.002215	0.01614	T	-0.376637	0.03271	T	-0.77879	0.02490	T	0.0312908365801057	0.02193	T	0.586841	0.21439	T	0.0211579	0.00705	0.020191908	0.00123	0.0211579	0.00704	0.020191908	0.00123	-2.542	0.09999	T	.	.	0.080	0.11797	B	.;.;.;.;.	.;.;.;.;.	0.396056	0.07677	4.346	0.99653604535022244	0.77442	0.00159	0.00951	N	AEFBI	0.069522	0.13765	N	-0.856469299721491	0.11892	0.5764462	-1.00948765204516	0.09575	0.4771982	1.20718916999156E-5	0.02871	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	2.89	-0.58	0.11129	-1.203000	0.03129	-20.000000	0.00162	-0.284000	0.06380	0.000000	0.06391	0.000000	0.08366	0.314000	0.24830	0.0:0.5443:0.0:0.4557	5.296	0.15061	392	0.83172	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	107.33	41	chr17	35441716	.	C	T	107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=946;ExcessHet=0;FS=73.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.49;MQRankSum=-5.359;QD=1.45;ReadPosRankSum=0.54;SOR=4.97	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr17	35443821	35443821	T	A	exonic	SLFN13	.	nonsynonymous SNV	SLFN13:NM_144682:exon4:c.A1166T:p.H389L	.	430	1086	4	2	0	8	0.00366972	.	.	.	3333018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0115159664791	0.0002	0.000399361	0.0006	0	0.0003	0	0	0.0006	0	0.0018	0.0005304	82	154602	rs184067869	0.0005	0.0005	0.0004	0.0005	0.0021	0.0004	0.0004	0.0018	0.0018	5.975e-05	0.0006	0.0071	0	0	0.0017	0.0002	0.0012	0.0021	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0008	0.0007	4.81e-05	0	0.0012	0.0101	0	0	0.0034	0.0002	0.0024	0.0017	0.647	0.05121	T	0.659	0.06554	T	0.995	0.67487	D	0.969	0.72001	D	0.007352	0.31448	N	0.146331	1	0.08975	N	2.135	0.59519	M	0.4	0.57261	T	-4.97	0.82063	D	0.306	0.34659	-0.8975	0.48244	T	0.173	0.51579	T	10	0.00873071	0.00198	T	0.011516	0.29227	T	0.078	0.22779	.	.	0.666274634411	0.66346	0.18112700107934615	0.18031	0.249144945785	0.27484	0.441260814667	0.30749	T	0.016937	0.35013	T	-0.419071	0.01734	T	-0.399371	0.33457	T	0.139930220092191	0.16269	T	0.739826	0.35853	T	0.05823648	0.11690	0.06686708	0.13754	0.05823648	0.11689	0.06686708	0.13754	-1.222	0.01539	T	.	.	0.177	0.46619	B	.;.;.;.;.;.	.;.;.;.;.;.	0.851131	0.12232	8.777	0.54789028174996957	0.05208	0.01447	0.04852	N	AEFBI	0.037473	0.05159	N	-0.715389949897208	0.15590	0.7869588	-0.923840829369967	0.11532	0.5880733	9.33437994810395E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	3.68	-0.216	0.12506	-0.305000	0.08227	-5.081000	0.01858	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.3836:0.1145:0.0:0.5019	2.927	0.05434	356	0.85138	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	2210.81	38	chr17	35443821	.	T	A	2210.81	.	AC=2;AF=0.053;AN=38;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.29;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	18	1	0	0
chr17	35557548	35557548	A	G	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.T515C:p.V172A	Bleeding disorder, platelet-type, 20, Autosomal dominant	432	1028	59	3	0	65	0.0306459	.	.	.	704096	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0044	0.00299521	0.0061	0.0009	0.0024	0	0	0.0056	0.0158	0.0083	0.0014295	221	154602	rs139678049	0.0038	0.0036	0.0036	0.0040	0.0237	0.0037	0.0037	0.0204	0.0192	0.0009	0.0025	0.0041	2.798e-05	0.0045	0.0237	0.0036	0.0050	0.0073	0.0036	0.0036	0.0034	0.0038	0.0068	0.0033	0.0032	0.0050	0.0044	0.0007	0.0044	0.0050	0.0052	0.0002	0.0047	0.0374	0.0046	0.0052	0.0068	1.0	0.00964	T	0.915	0.02917	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.61	0.01851	T	0.05	0.06369	N	0.041	0.01421	-0.9040	0.47561	T	0.003	0.01059	T	9	0.0035861135	0.00065	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.11388721241845448	0.11316	.	.	0.366298258305	0.20299	T	0.001263	0.00750	T	-0.756657	0.00016	T	-0.855377	0.00894	T	0.00295827883729636	0.00031	T	0.285971	0.05105	T	0.03821189	0.05047	0.056199078	0.09999	0.03821189	0.05047	0.056199078	0.09999	-2.862	0.08769	T	0.09477351242601473	0.06379	0.09	0.12607	B	.	.	-0.844807	0.01022	0.043	0.54133050744978661	0.05077	0.01037	0.03880	N	AEFDGBI	0.047602	0.08034	N	-1.35534628661118	0.03070	0.1365609	-1.45076427652503	0.02763	0.1276862	0.999961712661618	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.1	-5.53	0.02351	0.055000	0.14112	0.192000	0.15754	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2592:0.151:0.5898:0.0	8.190	0.30522	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019608	0.006579	0.031915	0.022936	0.083333	0.000000	0.029412	0.014286	0.02632	1625.33	35	chr17	35557548	.	A	G	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=766;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.08;SOR=0.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	0	1	0
chr17	35741231	35741231	G	A	exonic	RASL10B	.	nonsynonymous SNV	RASL10B:NM_033315:exon4:c.G538A:p.A180T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.124679405887	0.0003	0.000798722	0.0006	0	0.0004	0	0	0.0008	0	0.0009	0.0004786	74	154602	rs147094602	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0002	0.0007	0.0024	0	1.941e-05	0.0068	0.0002	0.0007	0.0009	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	4.808e-05	0	0.0007	0.0040	0.0002	0	0.0068	0.0003	0.0014	0.0008	.	.	.	0.477	0.12002	T	0.939	0.52645	P	0.16	0.34752	B	0.000015	0.62929	D	0.000000	0.761277	0.34041	D	0.75	0.19020	N	-2.13	0.86349	D	.	.	.	0.358	0.39962	-0.4750	0.69548	T	0.255	0.62485	T	10	0.024673253	0.00687	T	0.124679	0.80607	D	.	.	.	.	0.977120867506	0.97686	0.7982917059290335	0.79782	.	.	0.836708903313	0.87592	D	0.017295	0.14133	T	-0.193774	0.21707	T	-0.168948	0.57540	T	0.0571465865073061	0.06712	T	0.840916	0.51656	T	0.17744857	0.38712	0.21036054	0.45419	0.17744857	0.38711	0.21036054	0.45418	-3.618	0.18118	T	.	.	0.078	0.06849	B	.	.	4.310402	0.65883	24.9	0.99088182150852355	0.52149	0.97865	0.77711	D	AEFDBHCIJ	0.677059	0.64189	D	0.116022340172161	0.47209	2.949934	0.267899167531657	0.53674	3.535256	0.999999998161207	0.74766	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	5.39	4.36	0.51643	6.218000	0.72169	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0818:0.1576:0.7605:0.0	8.354	0.31482	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.004076	0.005848	0.000000	0.008621	0.003067	0.003788	0.02632	1100.33	35	chr17	35741231	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.796;DP=701;ExcessHet=0;FS=12.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.983;SOR=0.116	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	18	0	1	0
chr17	35745510	35745510	G	A	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon6:c.C1987T:p.P663S	.	.	.	.	.	.	.	.	.	.	.	2430493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00811915112752	0.0005	0.000199681	0.0003	9.839e-05	0	0	0	0.0005	0	6.911e-05	0.0002781	43	154602	rs141500997	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	0	0.0002	0.0034	5.047e-05	0.0001	0.0005	0.0004	0.0004	4.645e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0002	0.0040	0	0	0	0.0005	0	0	.	.	.	0.884	0.03241	T	0.999	0.77913	D	0.96	0.70309	D	0.008633	0.30747	N	0.229124	1	0.08975	N	1.1	0.28011	L	2.13	0.19588	T	.	.	.	0.391	0.46928	-1.0828	0.06814	T	0.085	0.33099	T	10	0.02093631	0.00491	T	0.008119	0.21521	T	.	.	.	.	0.590905048371	0.58767	0.1922301592650432	0.19141	.	.	0.333755046129	0.15500	T	0.012966	0.11300	T	-0.40579	0.02121	T	-0.475728	0.24901	T	0.0512603372335434	0.05720	T	0.816118	0.47137	T	0.079513356	0.18169	0.17373285	0.39720	0.079513356	0.18169	0.17373285	0.39719	-3.848	0.21523	T	.	.	0.106	0.26325	B	.;.	.;.	3.224815	0.43955	21.8	0.9964705413581022	0.77068	0.42060	0.26794	N	AEFDBCI	0.108565	0.21592	N	0.103284234545085	0.46616	2.899217	-0.00195592919135813	0.39628	2.352483	0.017839721297782	0.12994	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.58	4.58	0.56077	1.390000	0.34072	9.606000	0.81076	0.618000	0.50648	0.021000	0.19753	1.000000	0.68203	0.082000	0.17360	0.0:0.0:1.0:0.0	14.243	0.65516	461	0.78683	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1601.33	33	chr17	35745510	.	G	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.68;DP=802;ExcessHet=0;FS=3.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.24;SOR=0.96	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	18	0	1	0
chr17	35773240	35773240	G	A	exonic	MMP28	.	nonsynonymous SNV	MMP28:NM_024302:exon4:c.C544T:p.R182W,MMP28:NM_032950:exon4:c.C544T:p.R182W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	.	.	.	3.334e-05	0	0	0.0001	0	3.029e-05	0.0011	0	2.59e-05	4	154602	rs762370811	6.157e-06	6.156e-06	5.446e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.543e-05	0	0	0	0	0	0	0	.	.	.	0.03	0.67890	D	1.0	0.90584	D	0.987	0.77487	D	0.000006	0.62929	D	0.110598	.	.	.	3.105	0.87672	M	1.96	0.22270	T	.	.	.	0.853	0.86404	0.297	0.87508	D	0.557	0.83845	D	9	0.88603276	0.87931	D	.	.	.	.	.	.	.	0.630552110153	0.62753	0.8072031351247227	0.80675	.	.	0.837971687317	0.87784	D	0.316725	0.68824	T	-0.124603	0.32374	T	-0.247632	0.50051	T	0.548374474048615	0.34416	D	.	.	.	0.5428541	0.69556	0.40552518	0.64951	0.5428541	0.69557	0.40552518	0.64951	-11.803	0.83878	D	.	.	0.378	0.58328	A	.;.	.;.	5.971244	0.94222	34	0.91441153770671246	0.20711	0.96163	0.67822	D	AEFDBI	0.047053	0.07882	N	0.831157055646566	0.88011	9.420701	0.753285848558652	0.86401	8.877749	0.999999303010503	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.056198	0.00348	3	0.586402	0.36253	0	.	.	4.85	4.85	0.62375	6.407000	0.73202	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.949	0.86110	435	0.80441	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	34	chr17	35773240	.	G	A	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.329;DP=717;ExcessHet=0;FS=1.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.473;SOR=0.478	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr17	35937770	35937770	C	T	exonic	LYZL6	.	nonsynonymous SNV	LYZL6:NM_001199951:exon3:c.G286A:p.V96I,LYZL6:NM_020426:exon3:c.G286A:p.V96I	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00243626193293	0.0002	0.000599042	0.0009	0	0.0003	0.0020	0.0003	0.0006	0.0011	0.0024	0.0007762	120	154602	rs114022698	0.0005	0.0005	0.0004	0.0006	0.0022	0.0005	0.0005	0.0020	0.0019	0	0.0004	7.655e-05	0.0010	0.0008	0.0014	0.0004	0.0007	0.0022	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0022	0.0018	0	0	0.0004	0	0.0017	0.0004	0	0.0008	0.0009	0.0035	.	.	.	1.0	0.01155	T	0.251	0.31212	B	0.094	0.30180	B	0.172424	0.17335	N	0.514876	1	0.08975	N	0.46	0.12951	N	.	.	.	.	.	.	0.074	0.04790	-0.9849	0.33856	T	0.080	0.31735	T	10	0.0055996478	0.00124	T	0.002436	0.04785	T	.	.	.	.	0.104622674875	0.10061	0.41058968588628436	0.40974	.	.	0.38222399354	0.22572	T	0.001494	0.00943	T	-0.660014	0.00063	T	-0.726079	0.04507	T	0.01069367596037	0.00150	T	0.520648	0.16939	T	0.024376975	0.01263	0.04680669	0.06605	0.024376975	0.01263	0.04680669	0.06604	-3.77	0.20357	T	.	.	0.086	0.10883	B	.;.	.;.	-0.118734	0.03530	0.673	0.23395964315172221	0.00987	0.00612	0.02715	N	AEFI	0.033182	0.03888	N	-1.31943557166513	0.03453	0.1542687	-1.34180247458768	0.03903	0.1830363	1.8869553561155E-6	0.01202	0.497415	0.19182	0	0.573078	0.20572	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-0.996	0.09696	-1.044000	0.03642	-10.973000	0.00647	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.4826:0.1448:0.3726	5.249	0.14831	305	0.87738	Glycoside hydrolase, family 22, conserved site;Glycoside hydrolase, family 22, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	689.33	35	chr17	35937770	.	C	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.33;DP=679;ExcessHet=0;FS=6.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.094;SOR=0.199	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	18	0	1	0
chr17	36254418	36254418	G	A	exonic	TBC1D3D;TBC1D3H;TBC1D3I	.	nonsynonymous SNV	TBC1D3H:NM_001123392:exon14:c.C1186T:p.R396W,TBC1D3I:NM_001291463:exon14:c.C1186T:p.R396W,TBC1D3D:NM_001291465:exon14:c.C1186T:p.R396W	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377294166	0.0052	0.0079	0.0053	0.0050	0.0248	0.0050	0.0050	0.0235	0.0229	0.0004	0.0009	0.0023	0.0248	0.0039	0.0018	0.0049	0.0059	0.0023	0.0041	0.0057	0.0041	0.0040	0.0287	0.0038	0.0036	0.0243	0.0227	0.0006	0.0084	0.0013	0.0028	0.0287	0.0060	0	0.0050	0.0062	0.0033	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.005789131	0.00129	T	.	.	.	.	.	.	.	.	.	0.06396651016620454	0.06335	.	.	.	.	.	0.065103	0.32604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.011	0.36959	T	.	.	0.093	0.13969	B	.	.	1.514077	0.19445	14.27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383000	0.07456	-0.813000	0.07327	0.193000	0.17869	0.001000	0.13787	0.000000	0.08366	0.112000	0.18829	.	.	.	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	129.65	8	chr17	36254418	.	G	A	129.65	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.2;DP=284;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0603;MLEAC=2;MLEAF=0.056;MQ=25.32;MQRankSum=0.939;QD=3.6;ReadPosRankSum=1.76;SOR=0.12	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,345	16	0	2	1
chr17	36332786	36332786	G	-	exonic	TBC1D3G;TBC1D3H;TBC1D3L	.	frameshift deletion	TBC1D3L:NM_001369501:exon11:c.889delG:p.G297Afs*29,TBC1D3L:NM_001369499:exon12:c.1138delG:p.G380Afs*29,TBC1D3L:NM_001369500:exon12:c.955delG:p.G319Afs*29,TBC1D3H:NM_001123392:exon13:c.955delG:p.G319Afs*29,TBC1D3G:NM_001291462:exon13:c.955delG:p.G319Afs*29,TBC1D3L:NM_001369503:exon13:c.205delG:p.G69Afs*29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400081912	0.0024	0.0085	0.0024	0.0023	0.0027	0.0022	0.0022	0.0024	0.0024	0.0008	0.0013	0.0016	0	0.0027	0.0006	0.0025	0.0022	0.0027	0.0015	0.0067	0.0015	0.0015	0.0022	0.0013	0.0012	0.0019	0.0017	0.0007	0	0.0006	0.0020	0	0.0017	0	0.0022	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	115.95	5	chr17	36332785	.	TG	T	115.95	.	AC=2;AF=0.071;AN=28;DP=101;ExcessHet=0;FS=0;InbreedingCoeff=0.6929;MLEAC=1;MLEAF=0.036;MQ=21.7;QD=31.95;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:11,0:11:33:.:.:0,33,439:.	13	1	0	5
chr17	36430574	36430574	C	G	exonic	TBC1D3F	.	nonsynonymous SNV	TBC1D3F:NM_032258:exon13:c.G985C:p.V329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00221399209832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1188067764	0.0001	0.0001	0.0001	0.0001	0.0006	9.831e-05	9.289e-05	0.0004	0.0004	0.0003	0	0	0	0	0	0.0001	2.097e-05	0.0006	6.295e-05	0.0001	5.853e-05	6.809e-05	9.305e-05	2.069e-05	1.289e-05	3.169e-05	1.86e-05	0	0	0	0	0	0	0	9.305e-05	0	0	.	.	.	0.567	0.08900	T	.	.	.	.	.	.	0.869056	0.07164	U	1.099510	1	0.19072	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0135	0.25816	T	0.025	0.10910	T	8	0.048657537	0.04346	T	0.002214	0.04178	T	.	.	0.377	0.39156	0.043077524339	0.03247	0.02904107357001647	0.02853	.	.	.	.	.	.	.	.	-0.20497	0.20091	T	-0.532202	0.19068	T	0.041886929422617	0.04033	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27968	B	.	.	-0.503938	0.01855	0.149	0.21163560765233003	0.00794	0.01022	0.03842	N	AEFI	0.060718	0.11559	N	-1.91291400560523	0.00323	0.01387097	-1.983644017712	0.00331	0.01463814	8.09052537802164E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.145000	0.10248	-1.322000	0.05720	-1.178000	0.01389	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	768.11	33	chr17	36430574	.	C	G	768.11	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.24;DP=515;ExcessHet=0;FS=4.723;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=30.26;MQRankSum=-1.361;QD=10.52;ReadPosRankSum=-0.017;SOR=0.333	GT:AD:DP:GQ:PL	0/1:38,35:73:99:780,0,771	14	0	1	4
chr17	36437916	36437916	G	C	exonic	TBC1D3F;TBC1D3K	.	stopgain	TBC1D3K:NM_001291464:exon2:c.C66G:p.Y22X,TBC1D3F:NM_032258:exon2:c.C66G:p.Y22X	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.437e-06	5.593e-06	5.43e-06	3.481e-06	1.301e-05	1.3e-06	9.5e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.598e-06	2.012e-05	1.301e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000342	0.45440	U	0.151772	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0364866	0.56582	T	-0.185366	0.56023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.216189	0.43802	21.8	0.98648937095394407	0.44164	0.01200	0.04279	N	AEFI	0.065076	0.12672	N	0.186313778786688	0.50543	3.24321	-0.138944210281906	0.33837	1.939796	7.69288211797132E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.166000	0.09943	-2.561000	0.03607	-0.318000	0.05900	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	784.33	34	chr17	36437916	.	G	C	784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=1034;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.87;MQRankSum=-1.526;QD=2.42;ReadPosRankSum=0.59;SOR=0.881	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	18	0	1	0
chr17	36437941	36437941	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A41C:p.E14A,TBC1D3F:NM_032258:exon2:c.A41C:p.E14A	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0144153293516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.849e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000199	0.48115	U	0.136304	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.2	0.22098	-0.8604	0.51234	T	0.230	0.59521	T	7	0.23035407	0.39984	T	0.014415	0.34525	T	.	.	0.475	0.55182	0.0716867268079	0.06686	0.10439902475737296	0.10369	.	.	.	.	.	.	.	.	-0.154996	0.27531	T	-0.460418	0.26554	T	0.904707014560699	0.55824	D	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.46132	B	.	.	1.295972	0.16976	12.88	0.97654959113081952	0.35160	0.01474	0.04912	N	AEFI	0.048803	0.08365	N	0.153386028143777	0.48973	3.102992	-0.119095045377407	0.34621	1.993523	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.641000	0.05531	-1.762000	0.04772	0.451000	0.21329	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	360.33	34	chr17	36437941	.	T	G	360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.393;DP=1618;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.28;MQRankSum=-4.43;QD=1.02;ReadPosRankSum=0.818;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	18	0	1	0
chr17	36437943	36437943	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A39C:p.Q13H,TBC1D3F:NM_032258:exon2:c.A39C:p.Q13H	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00558305755148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	0.034674	0.24740	U	0.359000	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.133	0.12913	-0.9607	0.39050	T	0.184	0.53209	T	7	0.21150455	0.37580	T	0.005583	0.14409	T	.	.	0.333	0.32005	0.0482279557977	0.04254	0.0385185198242166	0.03797	.	.	.	.	.	.	.	.	-0.18409	0.23129	T	-0.502209	0.22119	T	0.679637432098389	0.39771	D	0.754325	0.37688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.54309	B	.	.	1.347465	0.17547	13.23	0.97380172613051019	0.33666	0.00405	0.02019	N	AEFI	0.061274	0.11703	N	-0.0107038131523379	0.41369	2.473303	-0.265005902846369	0.29260	1.637864	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-1.608000	0.02171	-3.605000	0.02663	-0.616000	0.04572	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	348.33	34	chr17	36437943	.	T	G	348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=1622;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.36;MQRankSum=-4.498;QD=0.97;ReadPosRankSum=0.58;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	18	0	1	0
chr17	36437944	36437944	T	G	exonic	TBC1D3F;TBC1D3K	.	nonsynonymous SNV	TBC1D3K:NM_001291464:exon2:c.A38C:p.Q13P,TBC1D3F:NM_032258:exon2:c.A38C:p.Q13P	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00446354477925	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411316538	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.673e-06	1.971e-05	1.305e-05	0	2.475e-05	0	0	.	.	2.475e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.049	0.48336	D	.	.	.	.	.	.	0.034674	0.24740	U	0.359000	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.311	0.35088	-0.9634	0.38527	T	0.178	0.52318	T	7	0.26923212	0.44447	T	0.004464	0.10937	T	.	.	0.548	0.66296	0.0762999501168	0.06990	0.12724698870855047	0.12650	.	.	.	.	.	.	.	.	-0.128291	0.31772	T	-0.422057	0.30840	T	0.679637432098389	0.39771	D	0.744825	0.36507	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.28807	B	.	.	1.495998	0.19239	14.16	0.97131878854793585	0.32503	0.01042	0.03892	N	AEFI	0.109026	0.21670	N	0.0393201626186608	0.43653	2.653999	-0.209792287984765	0.31184	1.762406	7.69288211797132E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.446000	0.06910	-4.303000	0.02228	-0.470000	0.05093	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	330.33	34	chr17	36437944	.	T	G	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=1628;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.47;MQRankSum=-4.594;QD=0.91;ReadPosRankSum=0.52;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	18	0	1	0
chr17	36437948	36437955	CCCACCAA	-	exonic	TBC1D3F;TBC1D3K	.	frameshift deletion	TBC1D3K:NM_001291464:exon2:c.27_34del:p.W10Tfs*25,TBC1D3F:NM_032258:exon2:c.27_34del:p.W10Tfs*25	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.712e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	256.29	34	chr17	36437947	.	GCCCACCAA	G	256.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.704;DP=1657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.34;MQRankSum=-4.506;QD=0.66;ReadPosRankSum=0.44;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	18	0	1	0
chr17	36450228	36450228	G	C	exonic	TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3J	.	nonsynonymous SNV	TBC1D3J:NM_001355571:exon11:c.C1295G:p.A432G	.	519	976	16	11	0	38	0.0190955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405447229	0.0061	0.0059	0.0060	0.0062	0.0107	0.0060	0.0060	0.0101	0.0099	0.0014	0.0034	0.0005	0	0.0010	0.0093	0.0065	0.0059	0.0107	0.0040	0.0042	0.0042	0.0037	0.0065	0.0037	0.0036	0.0050	0.0048	0.0013	0.0370	0.0049	0.0018	0	0.0004	0	0.0054	0.0042	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1316.59	33	chr17	36450228	.	G	C	1316.59	.	AC=2;AF=0.056;AN=36;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.056;MQ=53.34;QD=32.11;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	17	1	0	1
chr17	36515959	36515959	T	C	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_001033580:exon7:c.A446G:p.Y149C,MYO19:NM_001163735:exon7:c.A446G:p.Y149C,MYO19:NM_025109:exon7:c.A446G:p.Y149C	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.0509370994793	0.0019	0.000399361	0.0014	0.0002	0.0005	0	0	0.0021	0	0.0014	0.0013195	204	154602	rs187710120	0.0016	0.0016	0.0016	0.0017	0.0016	0.0016	0.0015	0.0016	0.0015	0.0004	0.0004	0.0102	0	0.0001	0.0016	0.0016	0.0018	0.0012	0.0012	0.0012	0.0013	0.0010	0.0016	0.0010	0.0010	0.0013	0.0012	0.0003	0	0.0005	0.0124	0	0	0	0.0016	0.0024	0.0010	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.995	0.86255	D	0.001623	0.38439	N	0.000000	1	0.81001	D	2.385	0.68708	M	.	.	.	.	.	.	0.87	0.88577	0.745	0.93731	D	0.790	0.92892	D	10	0.022100568	0.00543	T	0.050937	0.64450	D	.	.	.	.	0.528009843598	0.52448	0.7749957426846956	0.77449	.	.	0.65917468071	0.61291	T	0.465155	0.91238	T	0.130761	0.67435	D	0.379675	0.91421	D	0.0440335813380743	0.04426	T	.	.	.	0.46823198	0.65182	0.53241986	0.72982	0.46823198	0.65182	0.53241986	0.72982	-10.232	0.77772	D	.	.	0.162	0.54213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.709060	0.75631	26.4	0.99834498412076167	0.91542	0.94136	0.60221	D	AEFBCI	0.783552	0.71451	D	0.748864963338406	0.82829	7.860827	0.721814347666258	0.84037	8.18123	0.999697548608659	0.41870	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	5.749000	0.68341	6.234000	0.55243	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.823	0.69720	578	0.69858	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XIX myosin, motor domain;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	749.33	35	chr17	36515959	.	T	C	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=723;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.22;SOR=0.892	GT:AD:DP:GQ:PL	0/1:34,33:67:99:763,0,829	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:50,54:104:99:554,0,543	1	0	18	0
chr17	37619826	37619826	T	A	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon13:c.A1591T:p.I531L,DDX52:NM_001291476:exon14:c.A1267T:p.I423L	.	433	1076	13	0	0	13	0.00600462	.	.	.	3239966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0135497970259	0.0002	0.000599042	0.0007	0.0002	0.0002	0	0.0012	0.0009	0.0011	0.0012	0.0007503	116	154602	rs199573535	0.0010	0.0010	0.0009	0.0010	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0004	0	5.041e-05	0.0007	0.0017	0.0010	0.0010	0.0011	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0003	0	0.0002	0.0012	0	0.0011	0.0005	0.0004	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999923	0.51308	D	.	.	.	.	.	.	.	.	.	0.608	0.62526	-1.0349	0.18888	T	0.015	0.05849	T	10	0.068556994	0.09712	T	0.01355	0.33038	T	.	.	0.564	0.68499	0.512825096792	0.50922	0.7360196389273322	0.73546	.	.	0.804432868958	0.82639	D	.	.	.	-0.321254	0.06795	T	-0.240093	0.50790	T	0.0292296690857187	0.01873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43626	B	.	.	3.363315	0.46445	22.3	0.97269196317037288	0.33126	0.99044	0.90407	D	AEFGBI	0.744499	0.68747	D	-0.300784830345247	0.29119	1.612001	-0.0933666593019347	0.35664	2.065987	0.999318484597024	0.39113	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	6.843000	0.75179	7.895000	0.73253	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.899	0.63293	49	0.97662	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05263	2257.83	41	chr17	37619826	.	T	A	2257.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.6;DP=782;ExcessHet=0.119;FS=2.737;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.592;SOR=0.872	GT:AD:DP:GQ:PL	0/1:35,37:72:99:970,0,766	17	0	2	0
chr17	37642146	37642146	-	CCT	exonic	DDX52	.	nonframeshift insertion	DDX52:NM_007010:exon2:c.249_250insAGG:p.R83_E84insR	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.000798722	0.0005	9.614e-05	0.0006	0	0	0.0006	0	0.0010	0.0001153	3	26028	rs373034938	0.0004	0.0004	0.0003	0.0004	0.0043	0.0003	0.0003	0.0030	0.0026	0.0004	0.0007	0.0005	0	0	0.0043	0.0003	0.0006	0.0011	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	4.815e-05	0	0.0007	0	0	0	0.0034	0.0005	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.006793	0.005848	0.000000	0.000000	0.009146	0.000000	0.02632	2604.29	35	chr17	37642146	.	C	CCCT	2604.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.971;DP=750;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=1.05;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	18	0	1	0
chr17	37744683	37744683	C	G	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon1:c.G202C:p.G68R,HNF1B:NM_001165923:exon1:c.G202C:p.G68R,HNF1B:NM_001304286:exon1:c.G202C:p.G68R	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	961108	Maturity_onset_diabetes_mellitus_in_young|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.931	0.877104371001	.	.	4.173e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs767576616	2.806e-05	2.805e-05	5.448e-06	5.09e-05	0.0004	2.088e-05	1.879e-05	0.0003	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0004	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.009	0.74150	D	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	N	0.093169	1	0.81001	D	2.67	0.78151	M	.	.	.	.	.	.	0.841	0.92433	1.100	0.99649	D	0.972	0.99125	D	10	0.982064	0.98264	D	0.877104	0.99062	D	.	.	0.888	0.97226	0.890163816405	0.88907	0.8528664119043652	0.85248	.	.	0.783907949924	0.79519	T	0.970786	0.99680	D	0.15322	0.69569	D	0.30428	0.88393	D	0.651968727822185	0.38547	D	.	.	.	0.6263831	0.74105	0.51397586	0.71917	0.6263831	0.74106	0.51397586	0.71917	-9.369	0.70041	D	.	.	0.863	0.83824	P	.;.;.;.;.;.	.;.;.;.;.;.	5.693685	0.93073	33	0.99920259123044219	0.98721	0.98318	0.81579	D	ALL	0.908618	0.86416	D	0.767990054790617	0.84072	8.186342	0.735170731382176	0.85045	8.465036	0.999999999999847	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.13	5.13	0.69729	4.687000	0.61396	7.698000	0.66136	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.737	0.88304	128	0.94857	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1829.33	39	chr17	37744683	.	C	G	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=768;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.926;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	18	0	1	0
chr17	37744812	37744812	C	A	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon1:c.G73T:p.V25L,HNF1B:NM_001165923:exon1:c.G73T:p.V25L,HNF1B:NM_001304286:exon1:c.G73T:p.V25L	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	45513	not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma|not_provided|Renal_cysts_and_diabetes_syndrome	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	.	0.0002	0.00798722	0.0054	0	0	0.0003	0	0.0002	0.0023	0.0378	0.0045472	703	154602	rs139107479	0.0022	0.0022	0.0013	0.0031	0.0335	0.0021	0.0021	0.0325	0.0320	0.0001	0.0001	0.0033	2.519e-05	0	0.0016	4.227e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0018	0.0352	0.0011	0.0011	0.0309	0.0292	0.0001	0	0	0.0029	0.0004	0	0	4.411e-05	0.0005	0.0352	.	.	.	0.328	0.21343	T	0.505	0.37231	P	0.224	0.37970	B	0.000005	0.62929	D	0.061959	0.999733	0.48635	D	1.12	0.28775	L	.	.	.	.	.	.	0.143	0.23758	0.822	0.94679	D	0.863	0.95424	D	10	0.008750111	0.00198	T	.	.	.	.	.	0.631	0.76699	0.363734036182	0.35979	0.4184153378697141	0.41757	.	.	0.540789604187	0.44557	T	0.725476	0.92274	D	-0.382514	0.03004	T	-0.295772	0.45168	T	0.0286651391693961	0.01786	T	.	.	.	0.28545466	0.51566	0.3965339	0.64292	0.33086795	0.55542	0.47141975	0.69353	-6.814	0.52678	T	.	.	0.144	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.494622	0.48858	22.7	0.99204724568989155	0.55381	0.85212	0.44325	D	AEFDGBCI	0.634126	0.61412	D	-0.155822337058122	0.34987	2.003985	-0.0554235161108831	0.37256	2.178949	1.0	0.98316	0.59774	0.34471	0	0.552344	0.17405	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	0.861000	0.27540	5.992000	0.52347	0.599000	0.40250	0.025000	0.20085	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.614	0.87963	128	0.94857	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.015267	0.05263	2118.83	39	chr17	37744812	.	C	A	2118.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.439;DP=753;ExcessHet=0.119;FS=2.794;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.353;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	17	0	2	0
chr17	38328681	38328681	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G4888C:p.E1630Q	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1516	5	0	1	6	0.00164636	.	.	.	338188	Congenital_stationary_night_blindness_1E|GPR179-related_disorder|not_provided|not_specified	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00357332395772	0.0056	0.00219649	0.0040	0.0012	0.0032	0.0001	0.0009	0.0057	0.0033	0.0027	0.004172	645	154602	rs149998444	0.0064	0.0064	0.0064	0.0063	0.0075	0.0063	0.0062	0.0074	0.0073	0.0009	0.0031	0.0038	5.038e-05	0.0012	0.0014	0.0075	0.0056	0.0030	0.0037	0.0037	0.0041	0.0033	0.0066	0.0035	0.0034	0.0061	0.0059	0.0013	0	0.0022	0.0023	0.0002	0.0006	0	0.0066	0.0033	0.0019	.	.	.	0.404	0.14818	T	.	.	.	.	.	.	0.572189	0.11227	N	0.774326	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.027	0.00942	-1.0496	0.14509	T	0.031	0.13155	T	10	0.0032894015	0.00056	T	0.003573	0.08154	T	.	.	.	.	0.192905019026	0.18896	0.08255204975926442	0.08190	.	.	0.213734447956	0.00980	T	.	.	.	-0.666616	0.00057	T	-0.722362	0.04682	T	0.00154453632691513	0.00016	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.;.	.;.	-0.632550	0.01485	0.092	0.41441785518660146	0.02990	0.05045	0.10832	N	AEFBCI	.	.	.	-1.77196853209742	0.00617	0.02661648	-1.7733933196613	0.00848	0.03790213	0.940034133278305	0.27414	0.603402	0.35316	0	0.547309	0.14657	0	0.514364	0.09456	0	0.663205	0.64265	0	.	.	4.7	-3.74	0.04099	0.394000	0.20559	0.190000	0.15733	-0.902000	0.02317	0.000000	0.06391	0.003000	0.18671	0.007000	0.07825	0.0:0.2271:0.3738:0.3991	5.837	0.17868	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	8996.33	33	chr17	38328681	.	C	G	8996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1908;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.243;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	38330115	38330115	A	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.T3454C:p.S1152P	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1505	15	2	0	19	0.0062727	.	.	.	374952	Congenital_stationary_night_blindness_1E|not_specified|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0071	0.00339457	0.0067	0.0019	0.0070	0	0.0033	0.0092	0.0080	0.0032	0.0068175	1054	154602	rs149252987	0.0093	0.0092	0.0095	0.0090	0.0108	0.0091	0.0091	0.0107	0.0106	0.0016	0.0062	0.0047	0	0.0050	0.0044	0.0108	0.0080	0.0032	0.0068	0.0067	0.0075	0.0060	0.0102	0.0064	0.0063	0.0096	0.0093	0.0022	0.0637	0.0062	0.0049	0	0.0040	0.0068	0.0102	0.0071	0.0025	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	0.001369	0.39242	N	0.117170	0.974477	0.25489	N	.	.	.	.	.	.	.	.	.	0.525	0.55453	-0.9590	0.39368	T	0.119	0.41626	T	10	0.005481094	0.00121	T	.	.	.	.	.	.	.	0.370608029945	0.36667	0.20258049630973457	0.20175	.	.	0.417994588614	0.27562	T	.	.	.	-0.324274	0.06553	T	-0.22625	0.52134	T	0.0142897565111187	0.00284	T	0.630437	0.24556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.47338	B	.;.	.;.	3.573630	0.50344	22.9	0.99849158347106404	0.92838	0.28655	0.23613	N	AEFGBI	.	.	.	-0.0313918016067256	0.40438	2.40142	-0.0820273658342813	0.36133	2.098979	0.996471172121511	0.34770	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	4.18	0.48473	1.304000	0.33087	3.826000	0.39973	0.756000	0.94297	0.835000	0.30208	0.998000	0.33993	0.792000	0.37394	0.8425:0.0:0.0:0.1575	9.491	0.38121	125	0.94984	.;.	.	.	.	.	rs149252987	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.010870	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	4843.33	42	chr17	38330115	.	A	G	4843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=1533;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.4;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1471:.	18	0	1	0
chr17	38331156	38331156	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G2413C:p.E805Q	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	877368	not_provided|Congenital_stationary_night_blindness_1E	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	0.0307315996147	0.0007	0.000998403	0.0016	0	0.0002	0	0.0042	0.0017	0.0030	0.0030	0.0012484	193	154602	rs199619898	0.0015	0.0015	0.0014	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	8.962e-05	0.0003	0	0	0.0040	0.0007	0.0014	0.0011	0.0027	0.0011	0.0011	0.0011	0.0011	0.0025	0.0010	0.0009	0.0014	0.0011	0.0001	0.0099	0.0002	0	0	0.0039	0	0.0015	0	0.0025	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	0.212168	0.16339	N	0.548534	0.938602	0.37231	D	.	.	.	.	.	.	.	.	.	0.069	0.06190	-0.8271	0.53486	T	0.153	0.48291	T	10	0.007912993	0.00180	T	0.030732	0.52975	D	.	.	.	.	0.152612264143	0.14878	0.27283546673740205	0.27196	.	.	0.365570604801	0.20194	T	.	.	.	-0.534294	0.00362	T	-0.544244	0.17882	T	0.0494947582087675	0.05410	T	0.518148	0.17380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30817	B	.;.	.;.	1.976133	0.25106	16.64	0.99369514030680184	0.61368	0.98499	0.83426	D	AEFDBI	.	.	.	0.250891826343326	0.53683	3.536133	0.201362654973295	0.49923	3.189911	0.999999999997221	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	1.472000	0.34984	4.501000	0.43609	0.599000	0.40250	0.080000	0.22340	0.737000	0.26456	0.022000	0.11911	0.0:1.0:0.0:0.0	17.890	0.88787	137	0.94565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2106.33	42	chr17	38331156	.	C	G	2106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=855;ExcessHet=0;FS=8.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.24;SOR=0.296	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1471	18	0	1	0
chr17	38469255	38469255	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon8:c.C1760T:p.P587L	.	409	1109	4	0	0	4	0.00180018	.	.	.	2387898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0124135495255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs537171313	0.0002	0.0001	0.0002	0.0001	0.0011	0.0001	0.0001	0.0008	0.0007	6.331e-05	0.0011	0	5.596e-05	0	0.0004	0.0001	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	9.143e-05	7.699e-05	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0002	.	.	.	0.308	0.19845	T	0.791	0.73220	P	0.246	0.61580	B	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	1.63	0.41750	L	.	.	.	.	.	.	0.541	0.56833	-1.1030	0.03747	T	0.062	0.25887	T	10	0.11480051	0.21611	T	0.012414	0.30958	T	.	.	0.255	0.19533	0.512192450023	0.50859	0.5903273410696618	0.58962	.	.	0.804570734501	0.82660	D	0.108714	0.42198	T	-0.284422	0.10204	T	-0.226881	0.52074	T	0.0909747271203113	0.11333	T	.	.	.	0.37883073	0.59232	0.29966024	0.56000	0.37883073	0.59232	0.29966024	0.55999	-12.76	0.89818	D	.	.	0.689	0.72511	P	.;.	.;.	4.368116	0.67223	25.1	0.95664433092004464	0.27499	0.99366	0.95088	D	AEFBI	0.807952	0.73185	D	0.222930558286575	0.52311	3.406162	0.246690516965255	0.52461	3.420802	0.99999999995796	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.78	3.78	0.42629	5.743000	0.68292	7.651000	0.63703	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	14.544	0.67603	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	37	chr17	38469255	.	C	T	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=818;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.469;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	18	0	1	0
chr17	38479767	38479767	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon14:c.C2513T:p.P838L	.	402	898	221	1	0	223	0.110451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00849835012686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179139464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.43531	T	0.288	0.36312	B	0.122	0.33328	B	0.007798	0.31194	N	0.339007	0.999976	0.54805	D	1.39	0.34934	L	.	.	.	.	.	.	0.135	0.13198	-1.0637	0.10855	T	0.029	0.12585	T	10	0.114997685	0.21652	T	0.008498	0.22482	T	.	.	.	.	0.548654159409	0.54520	0.28172159854278217	0.28085	.	.	0.641096115112	0.58720	T	0.005151	0.04592	T	-0.0195816	0.48914	T	-0.265904	0.48233	T	0.528647541999817	0.33684	D	.	.	.	0.1456844	0.33383	0.13910079	0.33200	0.1456844	0.33383	0.13910079	0.33199	-9.479	0.70728	D	.	.	0.062	0.08176	B	.;.	.;.	4.028711	0.59562	24.1	0.98714625169202608	0.45113	0.96355	0.68733	D	AEFBI	0.398704	0.47428	N	0.0482024911508484	0.44059	2.686984	0.198608916344503	0.49770	3.17639	0.838475277280199	0.24822	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	1.707000	0.37507	4.883000	0.45686	0.598000	0.34611	0.428000	0.26393	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.409	0.60378	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	40.46	34	chr17	38479767	.	C	T	40.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.066;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.026;MQ=49.4;MQRankSum=-2.453;QD=0.84;ReadPosRankSum=-2.284;SOR=0.628	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1046	18	0	1	0
chr17	38764133	38764133	T	C	exonic	PSMB3	.	nonsynonymous SNV	PSMB3:NM_002795:exon6:c.T584C:p.I195T	.	437	1074	10	1	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0171098515087	0.0003	0.000399361	0.0011	9.735e-05	0	0.0001	0	0.0003	0.0033	0.0066	0.0008797	136	154602	rs200486857	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0060	0	6.708e-05	0.0005	0	1.872e-05	0.0040	0.0002	0.0009	0.0066	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0039	4.81e-05	0	0.0001	0.0009	0	0	0.0068	0.0002	0.0005	0.0062	.	.	.	0.09	0.40267	T	0.044	0.21686	B	0.163	0.34892	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	.	.	.	0.837	0.83269	-0.9418	0.42330	T	0.129	0.43787	T	10	0.013218582	0.00281	T	0.01711	0.38673	T	.	.	.	.	0.311889312631	0.30795	0.9525385428532421	0.95237	.	.	0.859771370888	0.91077	D	0.345501	0.71388	T	0.0375635	0.56725	T	0.284767	0.87381	D	0.0470832311135717	0.04980	T	.	.	.	0.7744769	0.82317	0.40355882	0.64807	0.7744769	0.82319	0.40355882	0.64807	-7.633	0.58541	D	.	.	0.565	0.67416	P	.	.	4.857765	0.79462	27.1	0.99345137566987585	0.60331	0.97582	0.75697	D	AEFBCI	0.945944	0.95484	D	0.184895578582469	0.50474	3.237045	0.334079985156535	0.57554	3.92151	0.992659031619117	0.32919	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	8.001000	0.88013	7.776000	0.68567	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.687	0.56316	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	1005.33	33	chr17	38764133	.	T	C	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=703;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.047;SOR=0.95	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1303	18	0	1	0
chr17	39214269	39214269	T	C	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_001351360:exon8:c.A479G:p.K160R,STAC2:NM_198993:exon8:c.A905G:p.K302R	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00961022670831	0.0038	0.000998403	0.0027	0.0007	0.0018	0	0.0003	0.0044	0.0011	0.0004	0.0030853	477	154602	rs79968874	0.0052	0.0052	0.0054	0.0049	0.0063	0.0051	0.0050	0.0061	0.0061	0.0008	0.0020	0.0028	0	0.0005	0.0024	0.0063	0.0052	0.0005	0.0031	0.0031	0.0034	0.0028	0.0050	0.0029	0.0028	0.0046	0.0044	0.0016	0	0.0020	0.0029	0	0.0005	0.0034	0.0050	0.0052	0.0004	0.437	0.09346	T	0.221	0.25827	T	0.999	0.77913	D	0.996	0.84481	D	0.000002	0.62929	D	0.056171	0.996922	0.43508	D	0.035	0.08059	N	1.0	0.41392	T	-1.38	0.34198	N	0.305	0.34444	-1.0267	0.21527	T	0.086	0.33466	T	10	0.020850867	0.00488	T	0.00961	0.25130	T	0.195	0.47612	.	.	0.563873649602	0.56049	0.42853757149955524	0.42770	0.516753251321	0.49562	0.62697994709	0.56717	T	0.059677	0.31181	T	-0.347689	0.04874	T	-0.2689	0.47930	T	0.0175535971238021	0.00489	T	0.851715	0.53598	D	0.38021097	0.59332	0.24482717	0.49958	0.44682375	0.63841	0.2702353	0.52911	-6.596	0.51022	T	0.2631071747427153	0.35499	0.086	0.10787	B	.	.	4.927665	0.81218	27.5	0.998393990317611	0.91972	0.31796	0.24427	N	AEFDGBCIJ	0.522992	0.54678	D	0.272290393196863	0.54750	3.639754	0.327424170507449	0.57156	3.880547	0.999999880732311	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	3.666000	0.54277	4.211000	0.42532	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.720	0.62200	592	0.68746	SH3 domain|SH3 domain|SH3 domain|SH3 domain|Stac2, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3371.83	35	chr17	39214269	.	T	C	3371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.786;DP=886;ExcessHet=0.119;FS=1.991;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.062;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	17	0	2	0
chr17	39217966	39217966	G	A	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_198993:exon2:c.C298T:p.R100C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.063628044946	.	0.000599042	0.0015	0	0.0002	0	0	0	0	0.0079	0.0006339	98	154602	rs555370172	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	0	0	0	5.164e-05	0	0.0002	1.27e-05	0.0002	0.0065	0.0002	0.0002	2.571e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.058	0.37750	T	0.105	0.38016	T	0.009	0.15093	B	0.002	0.06944	B	0.022280	0.26667	N	0.338008	0.998152	0.22321	N	1.5	0.37844	L	-1.77	0.83660	D	-2.4	0.52776	N	0.296	0.33469	-0.7219	0.59369	T	0.296	0.66726	T	10	0.0058431625	0.00130	T	0.063628	0.69028	D	0.175	0.44197	.	.	0.823794105912	0.82213	0.33218259356116553	0.33131	0.165913380943	0.18718	0.69803237915	0.66861	T	0.074051	0.34845	T	-0.359954	0.04132	T	-0.287491	0.46033	T	0.0343337784271187	0.02694	T	0.761624	0.38671	T	0.08357313	0.19305	0.07155777	0.15336	0.08357313	0.19305	0.07155777	0.15336	-6.015	0.46406	T	0.25849390308799913	0.34925	0.087	0.11269	B	.	.	2.485045	0.32052	18.93	0.89927693436292078	0.19226	0.87424	0.46959	D	AEFDBI	0.553306	0.56461	D	-0.535337421554478	0.20945	1.107977	-0.4231933383439	0.24318	1.331012	0.999986637473194	0.51787	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.530356	0.10902	0	.	.	5.4	4.44	0.53164	3.374000	0.52132	2.307000	0.32053	0.610000	0.48991	0.831000	0.30147	0.093000	0.22564	0.006000	0.07323	0.079:0.0:0.921:0.0	13.096	0.58605	591	0.68823	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002039	0.000000	0.001362	0.002941	0.000000	0.000000	0.003165	0.003788	0.02632	1349.33	33	chr17	39217966	.	G	A	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=745;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.099;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	18	0	1	0
chr17	39665718	39665718	G	T	exonic	TCAP	.	nonsynonymous SNV	TCAP:NM_003673:exon2:c.G113T:p.C38F	Cardiomyopathy, hypertrophic, 25, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2G, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	198471	not_specified|Cardiovascular_phenotype|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_25|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G|not_provided	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.637	0.158703312849	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs375310569	0.0001	0.0001	0.0001	8.834e-05	0.0047	8.742e-05	8.227e-05	0.0033	0.0028	8.969e-05	0.0002	0	2.523e-05	0	0.0047	9.184e-05	8.305e-05	0	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0002	3.969e-05	3.126e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	7.353e-05	0.0009	0	0.523	0.07187	T	0.397	0.15157	T	0.988	0.62325	D	0.898	0.63708	P	0.000009	0.62929	D	0.122062	0.999991	0.58761	D	2.125	0.59049	M	-2.36	0.88143	D	-5.08	0.82896	D	0.296	0.48227	0.367	0.88593	D	0.674	0.88714	D	10	0.4545699	0.58909	T	0.158703	0.83904	D	0.637	0.86130	.	.	0.974897511524	0.97462	0.3451868843676257	0.34432	1.17954550711	0.79986	0.476928323507	0.35634	T	0.816411	0.95465	D	-0.0433708	0.45447	T	0.00164578	0.70442	D	0.374176114797592	0.27959	T	0.731927	0.34732	T	0.56536424	0.70806	0.5012083	0.71164	0.56536424	0.70807	0.5012083	0.71165	-3.397	0.15016	T	0.18647059994476767	0.24273	0.156	0.39664	B	.;.	.;.	4.210710	0.63609	24.6	0.84880132744283354	0.15552	0.87571	0.47154	D	AEFDGBHCI	0.927577	0.91046	D	0.403266126143953	0.61602	4.363518	0.429661888079662	0.63419	4.575476	0.999999999999735	0.74766	0.62174	0.39705	0	0.759151	0.99529	0	0.584781	0.30282	0	0.599892	0.37169	0	.	.	5.71	5.71	0.89031	2.978000	0.48996	8.639000	0.77885	0.676000	0.76740	0.960000	0.33603	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.616	0.91258	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005247	0.000000	0.001362	0.023179	0.000000	0.008772	0.000000	0.000000	0.05263	1392.83	44	chr17	39665718	.	G	T	1392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.522;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.339;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1385	17	0	2	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1438.33	34	chr17	39829479	.	G	A	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.39;DP=740;ExcessHet=0;FS=3.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.82;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr17	39868385	39868385	G	A	exonic	ZPBP2	.	nonsynonymous SNV	ZPBP2:NM_198844:exon1:c.G31A:p.V11M,ZPBP2:NM_199321:exon1:c.G31A:p.V11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0554410582052	.	.	0.0004	0	0	0	0	1.502e-05	0	0.0026	0.0002846	44	154602	rs775450115	0.0001	0.0001	6.689e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	8.993e-07	8.282e-05	0.0022	8.537e-05	8.53e-05	0	0.0002	0.0027	4.954e-05	3.961e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.102	0.91255	T	0.0	0.92824	D	0.451	0.77913	B	0.086	0.88582	B	0.004215	0.33991	N	0.132059	0.932554	0.27018	N	1.83	0.48079	L	0.6	0.70365	T	-0.52	0.24898	N	0.309	0.40164	-0.7831	0.56127	T	0.270	0.64193	T	10	0.014801592	0.00311	T	0.055441	0.66237	D	0.057	0.16321	0.271	0.22052	0.184867976434	0.18130	0.31749326520674054	0.31662	0.265036984086	0.29058	0.553974330425	0.46417	T	0.063147	0.32101	T	-0.359888	0.04136	T	-0.295588	0.45189	T	0.158933799867347	0.17792	T	0.760524	0.38496	T	0.06535249	0.13958	0.1292258	0.31075	0.06535249	0.13957	0.1292258	0.31074	-5.789	0.44478	T	.	.	0.153	0.45918	B	.;.;.;.	.;.;.;.	3.364362	0.46465	22.3	0.89042284740204236	0.18463	0.70790	0.34737	D	ALL	0.280011	0.39393	N	0.149964543205879	0.48810	3.088763	0.0916645889324548	0.44129	2.700611	0.999999717600512	0.74766	0.446893	0.09132	0	0.405561	0.06353	1	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.03	3.06	0.34374	2.629000	0.46152	4.730000	0.44549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.371000	0.26133	0.1146:0.0:0.8854:0.0	7.621	0.27353	666	0.61362	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	807.33	33	chr17	39868385	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=740;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.837;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1081:.	18	0	1	0
chr17	39872318	39872318	C	T	exonic	ZPBP2	.	nonsynonymous SNV	ZPBP2:NM_198844:exon4:c.C389T:p.T130I,ZPBP2:NM_199321:exon5:c.C455T:p.T152I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0610566646681	.	.	8.248e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs773539004	4.798e-06	4.788e-06	4.091e-06	5.512e-06	0.0002	2e-06	1.28e-06	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	4.979e-05	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.977	0.73820	D	0.001239	0.39743	N	0.178125	0.824609	0.81001	D	2.045	0.56016	M	0.55	0.54728	T	-3.0	0.62343	D	0.833	0.88137	-0.2005	0.77658	T	0.331	0.69885	T	10	0.87571466	0.86861	D	0.061057	0.68205	D	0.303	0.62400	0.802	0.92089	0.349870743963	0.34602	0.7942194733278887	0.79374	0.647461528529	0.58125	0.608391284943	0.54089	T	0.275087	0.64761	T	0.034697	0.56346	T	-0.0873066	0.64364	T	0.850447714328766	0.50204	D	0.756224	0.38847	T	0.29256698	0.52230	0.36526418	0.61878	0.29256698	0.52230	0.36526418	0.61878	-7.372	0.56707	T	.	.	0.717	0.75313	P	.;.;.	.;.;.	4.584226	0.72443	25.8	0.90289765529958887	0.19558	0.87056	0.46483	D	AEFDGBI	0.326585	0.42781	N	0.631407025546916	0.75171	6.258937	0.617867402067613	0.76237	6.454169	0.999999955137546	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.48	5.48	0.80675	3.334000	0.51814	7.503000	0.59513	0.549000	0.26987	0.991000	0.37257	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	17.139	0.86627	671	0.60868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	933.33	33	chr17	39872318	.	C	T	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=758;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.11;SOR=0.498	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr17	39905474	39905474	A	C	exonic	GSDMB	.	nonsynonymous SNV	GSDMB:NM_018530:exon7:c.T984G:p.F328L,GSDMB:NM_001369402:exon8:c.T1011G:p.F337L,GSDMB:NM_001042471:exon9:c.T1011G:p.F337L,GSDMB:NM_001165959:exon9:c.T1023G:p.F341L,GSDMB:NM_001165958:exon10:c.T1050G:p.F350L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0013730511954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.433940	0.12713	N	0.629622	1	0.08975	N	.	.	.	3.03	0.08898	T	1.83	0.00495	N	0.141	0.15328	-1.0381	0.17893	T	0.025	0.10509	T	10	0.06995216	0.10109	T	0.001373	0.01986	T	0.121	0.33580	.	.	0.0401082797425	0.02173	0.05261678160844195	0.05203	0.145359959787	0.16423	0.302919864655	0.10838	T	.	.	.	-0.347924	0.04858	T	-0.737545	0.03995	T	0.0407571946443665	0.03827	T	0.388161	0.09588	T	.	.	.	.	.	.	.	.	-1.182	0.01374	T	.	.	0.252	0.50718	B	.;.;.;.;.;.	.;.;.;.;.;.	0.237829	0.06184	2.633	0.13156033267158806	0.00250	0.10326	0.15864	N	AEFDBHCI	0.069309	0.13712	N	-0.636660078990554	0.17850	0.922083	-0.663770998159214	0.17870	0.9521002	0.999569444445271	0.40425	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.86	3.86	0.43689	0.706000	0.25365	1.576000	0.27446	0.681000	0.82415	0.001000	0.13787	0.001000	0.17328	0.074000	0.16894	1.0:0.0:0.0:0.0	9.337	0.37220	616	0.66398	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	632.33	34	chr17	39905474	.	A	C	632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=697;ExcessHet=0;FS=2.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.996;SOR=0.854	GT:AD:DP:GQ:PL	0/1:42,27:69:99:646,0,1007	18	0	1	0
chr17	39906137	39906137	C	T	exonic	GSDMB	.	nonsynonymous SNV	GSDMB:NM_018530:exon5:c.G796A:p.D266N,GSDMB:NM_001369402:exon6:c.G823A:p.D275N,GSDMB:NM_001042471:exon7:c.G823A:p.D275N,GSDMB:NM_001165959:exon7:c.G835A:p.D279N,GSDMB:NM_001165958:exon8:c.G862A:p.D288N	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0055	0.00319489	0.0069	0.0010	0.0015	0.0001	0.0159	0.0098	0.0066	0.0022	0.0069081	1068	154602	rs35266519	0.0076	0.0076	0.0077	0.0074	0.0085	0.0075	0.0074	0.0083	0.0083	0.0012	0.0021	0.0007	2.519e-05	0.0168	0.0009	0.0085	0.0066	0.0025	0.0063	0.0063	0.0061	0.0065	0.0094	0.0059	0.0058	0.0088	0.0086	0.0010	0	0.0029	0.0012	0	0.0186	0.0034	0.0094	0.0038	0.0033	0.127	0.31088	T	0.069	0.44501	T	0.002	0.09854	B	0.001	0.04355	B	0.497932	0.05074	N	1.309570	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.23	0.10656	N	0.201	0.25622	-0.9982	0.30423	T	0.020	0.08220	T	10	0.0032514334	0.00055	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.09307920688646468	0.09239	0.128528489135	0.14489	0.278110444546	0.07230	T	.	.	.	-0.677623	0.00050	T	-0.731855	0.04244	T	0.00319887027044854	0.00034	T	0.539146	0.18203	T	.	.	.	.	.	.	.	.	-4.648	0.32904	T	.	.	0.085	0.10208	B	.;.;.;.;.;.	.;.;.;.;.;.	0.547178	0.09157	5.940	0.98398330805385714	0.41042	0.04330	0.09889	N	AEFBI	0.071684	0.14279	N	-1.00790166525708	0.08439	0.3956853	-0.986449732602389	0.10089	0.5059653	0.244626113417056	0.18611	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	4.54	2.47	0.29113	0.552000	0.23083	-0.431000	0.09221	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7014:0.1941:0.1045	5.991	0.18695	616	0.66398	.;.;.;.;.;.	.	.	.	.	rs35266519	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2129.33	34	chr17	39906137	.	C	T	2129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.13;DP=896;ExcessHet=0;FS=5.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.139;SOR=0.395	GT:AD:DP:GQ:PL	0/1:97,73:170:99:2143,0,2535	18	0	1	0
chr17	39944558	39944558	C	T	exonic	LRRC3C	.	nonsynonymous SNV	LRRC3C:NM_001195545:exon2:c.C652T:p.R218W	.	412	1102	8	0	0	8	0.00361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	.	0.00119808	0.0135	0.0042	0.0132	0	0	0.0018	0.0172	0.0203	0.0005886	91	154602	rs532269168	0.0006	0.0006	0.0004	0.0009	0.0087	0.0006	0.0006	0.0082	0.0080	3.175e-05	0.0004	0	2.802e-05	0	0.0027	0.0001	0.0008	0.0087	0.0004	0.0004	0.0003	0.0006	0.0073	0.0004	0.0003	0.0054	0.0047	0.0002	0	0.0005	0	0.0002	0	0	0.0002	0.0010	0.0073	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.152015	0.17936	N	0.547535	0.992135	0.23930	N	1.735	0.44892	L	0.11	0.61208	T	-4.35	0.76900	D	0.244	0.27554	-0.7661	0.57071	T	0.231	0.59645	T	8	0.0099110305	0.00222	T	.	.	.	0.279	0.59619	.	.	0.587207757887	0.58394	0.47978731628785903	0.47898	.	.	0.275955766439	0.06934	T	0.186791	0.54019	T	-0.403318	0.02202	T	-0.346847	0.39567	T	0.0801751158628093	0.10009	T	0.80472	0.45238	T	0.21243206	0.43595	0.22894807	0.47951	0.21243206	0.43595	0.22894807	0.47950	-5.268	0.39625	T	.	.	0.089	0.12323	B	.	.	4.060583	0.60260	24.2	0.99667031453948318	0.78330	0.96888	0.71487	D	AEFDBI	0.745527	0.68817	D	0.217311846703359	0.52039	3.380619	0.213137149094698	0.50577	3.248157	0.0378191768548267	0.14316	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.65	4.65	0.57626	3.882000	0.55873	3.251000	0.37027	0.596000	0.33519	1.000000	0.71638	0.962000	0.29361	0.761000	0.36181	0.3241:0.6759:0.0:0.0	10.620	0.44666	486	0.77016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005703	0.000000	0.009804	0.004950	0.000000	0.000000	0.009804	0.007937	0.02632	1555.33	39	chr17	39944558	.	C	T	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=805;ExcessHet=0;FS=6.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.947;SOR=0.442	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr17	40016618	40016618	C	T	exonic	CSF3	.	nonsynonymous SNV	CSF3:NM_001178147:exon3:c.C329T:p.T110I,CSF3:NM_172220:exon3:c.C338T:p.T113I,CSF3:NM_000759:exon4:c.C446T:p.T149I,CSF3:NM_172219:exon4:c.C437T:p.T146I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0159876909078	.	.	0.0001	0	0	0	0	7.541e-05	0.0011	0.0005	9.7e-05	15	154602	rs772466210	5.678e-05	5.678e-05	3.267e-05	8.113e-05	0.0014	4.676e-05	4.301e-05	0.0007	0.0005	0	0	0	2.519e-05	0	0.0014	1.439e-05	0.0001	0.0006	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0002	0.018	0.61437	D	0.015	0.63109	D	0.872	0.51527	P	0.721	0.54900	P	0.014799	0.28429	N	0.376195	0.804062	0.34550	D	1.7	0.43825	L	2.33	0.16492	T	-4.34	0.79316	D	0.323	0.38643	-0.9795	0.35117	T	0.069	0.28147	T	10	0.19704825	0.35621	T	0.015988	0.37021	T	0.083	0.24192	.	.	0.684972698341	0.68228	0.27778074161041727	0.27691	0.970847484119	0.73358	0.341213047504	0.16619	T	0.465741	0.80076	T	-0.423432	0.01627	T	-0.535489	0.18741	T	0.441230833530426	0.30474	T	0.809719	0.46038	T	0.38148955	0.59424	0.33007488	0.58880	0.38148955	0.59425	0.33007488	0.58880	-3.863	0.22828	T	.	.	0.428	0.63656	A	.;.;.;.;.;.	.;.;.;.;.;.	3.134048	0.42357	21.5	0.99842313736161348	0.92229	0.51595	0.28932	D	AEFDBHI	0.182198	0.30953	N	0.296050000202634	0.55947	3.758955	0.280908305161641	0.54425	3.607561	0.999999657656645	0.74766	0.538715	0.22204	0	0.550933	0.16991	0	0.578056	0.29568	0	0.563494	0.21769	0	.	.	5.28	3.08	0.34576	1.173000	0.31529	3.102000	0.36323	0.599000	0.40250	0.751000	0.29144	0.989000	0.31174	0.839000	0.39591	0.4397:0.5602:0.0:0.0	10.690	0.45063	173	0.93306	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr17	40016618	.	C	T	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.221;DP=792;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.466;SOR=0.404	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1374	18	0	1	0
chr17	40026256	40026256	G	A	exonic	MED24	.	nonsynonymous SNV	MED24:NM_001079518:exon18:c.C1846T:p.R616W,MED24:NM_001267797:exon18:c.C1846T:p.R616W,MED24:NM_014815:exon19:c.C1885T:p.R629W,MED24:NM_001330211:exon20:c.C1942T:p.R648W	.	.	.	.	.	.	.	.	.	.	.	3985619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.326	0.0534136083653	7.7e-05	.	4.12e-05	9.621e-05	0.0003	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs375374665	3.078e-05	3.078e-05	4.22e-05	1.925e-05	0.0001	2.347e-05	2.095e-05	5.804e-05	3.952e-05	0	0.0001	0	2.519e-05	0	0	3.327e-05	1.656e-05	0	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.006	0.65419	D	0.002	0.79402	D	0.045	0.61912	B	0.009	0.45556	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.3	0.65703	M	0.76	0.49919	T	-2.96	0.62747	D	0.829	0.83167	-0.9954	0.31191	T	0.114	0.40582	T	10	0.35814768	0.52514	T	0.053414	0.65459	D	0.326	0.64826	.	.	0.426551566703	0.42274	0.7915021039524164	0.79102	0.420232389558	0.42552	0.865130066872	0.91865	D	0.431387	0.77952	T	0.0550608	0.58992	T	0.126028	0.78632	D	0.435148119926453	0.30251	T	0.954105	0.82551	D	0.24628925	0.47596	0.22210467	0.47044	0.24628925	0.47596	0.22210467	0.47043	-5.434	0.41245	T	.	.	0.724	0.75714	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.882926	0.93936	33	0.95998655239326081	0.28408	0.88917	0.49082	D	ALL	0.713870	0.66654	D	-0.193945377647924	0.33386	1.893	-0.0997000189783843	0.35403	2.047829	0.999999995231989	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	4.79	2.82	0.32061	3.597000	0.53777	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1551:0.0:0.6956:0.1493	6.159	0.19568	173	0.93306	Mediator complex, subunit Med24, N-terminal;.;Mediator complex, subunit Med24, N-terminal;.;Mediator complex, subunit Med24, N-terminal;Mediator complex, subunit Med24, N-terminal;Mediator complex, subunit Med24, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2139.33	33	chr17	40026256	.	G	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=819;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.211;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	18	0	1	0
chr17	40168227	40168227	C	A	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon11:c.C1775A:p.A592D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0197518629634	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs751450184	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.106	0.37872	T	0.181	0.29111	B	0.134	0.33146	B	0.000215	0.47681	D	0.175997	0.839755	0.35048	D	0.695	0.17993	N	.	.	.	-1.21	0.30762	N	0.734	0.73465	-0.7676	0.56989	T	0.152	0.48032	T	9	0.4418958	0.58154	T	0.019752	0.42191	T	0.147	0.38986	0.158	0.06178	0.485999240436	0.48233	0.6505043930563911	0.64986	0.733718582525	0.62856	0.59866464138	0.52715	T	0.036472	0.24114	T	0.162108	0.70396	D	0.0105667	0.71018	D	0.737712979316711	0.42615	D	0.864214	0.56114	D	0.42239395	0.62251	0.3575368	0.61246	0.42239395	0.62252	0.3575368	0.61245	-8.23	0.62627	D	.	.	0.397	0.59387	A	.	.	3.812617	0.55007	23.6	0.99606532717285545	0.74516	0.86709	0.46048	D	AEFDGBCI	0.438543	0.49789	N	-0.0301470109952991	0.40493	2.40572	0.131080316538698	0.46146	2.865518	0.999983419004697	0.51787	0.675202	0.55065	0	0.702456	0.74545	0	0.696144	0.63334	0	0.756233	0.99697	0	.	.	5.86	4.88	0.63131	4.144000	0.57825	4.038000	0.41399	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.892000	0.42986	0.0:0.8721:0.1279:0.0	16.919	0.86029	205	0.92010	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1448.33	34	chr17	40168227	.	C	A	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.016;DP=748;ExcessHet=0;FS=5.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.807;SOR=1.397	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	40178135	40178135	G	A	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_016339:exon1:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.42e-06	4.293e-05	1.6e-05	0	8.098e-06	1.98e-06	5.5e-07	1.35e-06	5e-07	0	0	0	0	0	0	8.098e-06	4.268e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.373	0.16328	T	.	.	.	.	.	.	.	.	.	.	0.999991	0.08975	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	-0.9784	0.35368	T	0.023	0.09923	T	5	0.068644464	0.09738	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.2120214355515725	0.21118	.	.	.	.	.	0.010317	0.09328	T	-0.370244	0.03582	T	-0.769607	0.02781	T	0.165464088320732	0.18266	T	0.381762	0.09261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	1.080663	0.14636	11.19	0.86267707158053886	0.16423	0.07333	0.13354	N	AEFDBCI	.	.	.	-0.664198601281877	0.17047	0.8739397	-0.765629658793394	0.15340	0.8062336	0.999580889003269	0.40607	0.110573	0.02883	0	0.037452	0.00068	0	0.119651	0.03204	0	0.079188	0.02158	0	0.171352	0.28945	5.16	0.16	0.14261	-0.020000	0.12466	0.058000	0.14093	-0.226000	0.07819	0.000000	0.06391	0.001000	0.17328	0.262000	0.23568	0.1761:0.0:0.4414:0.3824	4.428	0.10940	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	395.33	25	chr17	40178135	.	G	A	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.675;DP=509;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.188;SOR=0.836	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,598	18	0	1	0
chr17	40260575	40260575	G	A	exonic	WIPF2	.	nonsynonymous SNV	WIPF2:NM_133264:exon3:c.G104A:p.R35Q	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0110297606845	0.0046	0.00199681	0.0039	0.0009	0.0016	0	0.0047	0.0055	0.0055	0.0024	0.003965	613	154602	rs142659099	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0069	0.0068	0.0007	0.0024	0.0011	0	0.0045	0.0021	0.0070	0.0046	0.0023	0.0047	0.0047	0.0043	0.0052	0.0076	0.0044	0.0043	0.0066	0.0064	0.0013	0	0.0076	0.0017	0	0.0036	0	0.0071	0.0052	0.0021	0.036	0.43393	D	0.437	0.17372	T	0.985	0.61118	D	0.353	0.42910	B	0.000005	0.62929	D	0.065269	0.876926	0.81001	D	0.48	0.13178	N	1.6	0.42122	T	-0.89	0.24026	N	0.415	0.45898	-1.0545	0.13172	T	0.049	0.20711	T	10	0.006891489	0.00156	T	0.01103	0.28229	T	0.100	0.28662	.	.	0.606518698375	0.60336	0.12277854967486175	0.12203	0.180845980891	0.20341	0.568528354168	0.48469	T	0.093076	0.41034	T	-0.445648	0.01198	T	-0.409472	0.32285	T	0.0200212243466887	0.00703	T	0.855114	0.67884	D	0.14469379	0.33202	0.098769486	0.23560	0.14469379	0.33202	0.098769486	0.23559	-9.422	0.70373	D	.	.	0.120	0.34949	B	.;.;.;.;.	.;.;.;.;.	4.462703	0.69472	25.4	0.99919146978404716	0.98654	0.93898	0.59511	D	AEFDBI	0.669587	0.63697	D	0.334606572018892	0.57931	3.962755	0.46890795729196	0.65940	4.887692	0.985187444177392	0.30843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.385000	0.65981	11.855000	0.98181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0727:0.0:0.9273:0.0	13.160	0.58961	378	0.83833	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1490.33	33	chr17	40260575	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=734;ExcessHet=0;FS=2.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.774;SOR=0.434	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr17	40291139	40291139	A	G	exonic	CDC6	.	nonsynonymous SNV	CDC6:NM_001254:exon3:c.A260G:p.H87R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00339265989156	.	.	2.472e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs763169578	5.473e-06	5.472e-06	9.529e-06	1.375e-06	0.0002	2.35e-06	1.7e-06	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.02840	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.174631	0.17274	N	0.587355	0.999997	0.08975	N	-0.85	0.01485	N	0.92	0.44461	T	0.09	0.05917	N	0.01	0.00095	-1.0480	0.14960	T	0.034	0.14596	T	10	0.018920332	0.00416	T	0.003393	0.07603	T	0.031	0.07369	0.159	0.06287	0.393775345888	0.38992	0.11005166258663047	0.10934	0.230498149656	0.25597	0.224944710732	0.01615	T	0.010688	0.09625	T	-0.438516	0.01320	T	-0.598374	0.12948	T	0.0321142954523574	0.02324	T	0.360464	0.10010	T	0.01831639	0.00353	0.020786818	0.00155	0.01831639	0.00353	0.020786818	0.00155	-2.794	0.08128	T	.	.	0.052	0.00543	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.388975	0.02254	0.231	0.17205590292563383	0.00492	0.01959	0.05945	N	AEFGBCIJ	0.024998	0.01638	N	-1.19828746920416	0.05026	0.2281752	-1.12191840804506	0.07283	0.3536424	0.999888274714594	0.44867	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.636	0.56748	0	.	.	5.52	-1.5	0.08233	0.115000	0.15373	0.202000	0.15863	-0.156000	0.11795	0.017000	0.19353	0.000000	0.08366	0.053000	0.15439	0.3401:0.1278:0.3466:0.1855	0.826	0.01050	350	0.85473	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	7670.33	41	chr17	40291139	.	A	G	7670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=1301;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.2;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr17	40362975	40362975	C	T	exonic	GJD3	.	nonsynonymous SNV	GJD3:NM_152219:exon1:c.G841A:p.G281S	.	399	1111	11	1	0	13	0.00581655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0343893298681	.	0.000399361	0	0	.	0	.	0	0	0	0.001921	50	26028	rs573445596	0.0051	0.0043	0.0051	0.0051	0.0057	0.0050	0.0050	0.0056	0.0055	0.0005	0.0027	0.0024	0	0.0017	0.0054	0.0057	0.0038	0.0008	0.0030	0.0030	0.0033	0.0028	0.0049	0.0028	0.0027	0.0045	0.0043	0.0008	0.0011	0.0033	0.0014	0.0004	0.0009	0.0068	0.0049	0.0052	0.0021	.	.	.	0.554	0.09298	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.145	0.04423	N	-4.31	0.97195	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.0058748424	0.00131	T	0.034389	0.55641	D	.	.	.	.	0.915428574732	0.91457	0.1184518834409728	0.11772	1.25558682406	0.81889	0.762083411217	0.76240	T	0.048878	0.28145	T	-0.380717	0.03084	T	-0.317592	0.42838	T	.	.	.	0.49745	0.15470	T	0.038456775	0.05127	0.110848494	0.26732	0.038456775	0.05127	0.110848494	0.26731	-4.015	0.24027	T	.	.	0.080	0.07697	B	.	.	1.562891	0.20018	14.55	0.98781262144691018	0.46127	0.05245	0.11079	N	ALL	0.066392	0.12999	N	.	.	.	.	.	.	0.999999999757089	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.79	-1.57	0.08055	0.015000	0.13250	0.644000	0.20348	-0.319000	0.05888	0.008000	0.17931	0.937000	0.28687	0.856000	0.40543	0.1524:0.3191:0.0:0.5285	3.941	0.08825	311	0.87433	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004049	0.000000	0.000000	0.007246	0.000000	0.000000	0.009434	0.000000	0.02632	409.33	35	chr17	40362975	.	C	T	409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.87;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1095	18	0	1	0
chr17	40363680	40363697	CGAACACGGCGCCGCCCA	-	exonic	GJD3	.	nonframeshift deletion	GJD3:NM_152219:exon1:c.119_136del:p.V40_F45del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.161e-05	0	0	0	0	0	0	7.817e-05	3.84e-05	1	26028	rs760455563	8.919e-06	8.893e-06	8.191e-06	9.654e-06	0.0003	4.98e-06	3.84e-06	6.272e-05	4.776e-05	0	0	0	0	0	0.0003	0	1.659e-05	0.0001	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2297.29	40	chr17	40363679	.	TCGAACACGGCGCCGCCCA	T	2297.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.722;DP=819;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.841;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr17	40554804	40554804	G	A	exonic	CCR7	.	nonsynonymous SNV	CCR7:NM_001301714:exon2:c.C886T:p.R296W,CCR7:NM_001301716:exon3:c.C1057T:p.R353W,CCR7:NM_001301717:exon3:c.C1057T:p.R353W,CCR7:NM_001301718:exon3:c.C1057T:p.R353W,CCR7:NM_001838:exon3:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0718221285062	.	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs755563290	8.209e-06	8.209e-06	6.806e-06	9.626e-06	2.519e-05	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	7.654e-05	2.519e-05	0	0	5.396e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.023	0.57587	D	0.999	0.77913	D	0.872	0.61918	P	0.075821	0.21201	N	0.484707	0.803252	0.34540	D	1.83	0.48079	L	0.13	0.60973	T	-2.28	0.50830	N	0.396	0.43706	-0.0874	0.80386	T	0.334	0.70125	T	10	0.33809364	0.50920	T	0.071822	0.71371	D	0.296	0.61616	0.49	0.57573	0.438144244647	0.43432	0.6541680390650095	0.65352	1.74582744126	0.90929	0.506283521652	0.39703	T	0.355842	0.72278	T	-0.168277	0.25494	T	-0.297967	0.44940	T	0.754240334033966	0.43523	D	0.89781	0.64256	D	0.10999901	0.26004	0.12608765	0.30372	0.10999901	0.26003	0.12608765	0.30371	-6.192	0.47858	T	.	.	0.174	0.42346	B	.;.	.;.	3.668350	0.52151	23.2	0.99897075844263805	0.96971	0.67833	0.33577	D	AEFBHCI	0.725160	0.67424	D	0.442241333492722	0.63765	4.616548	0.386472856963695	0.60731	4.263955	0.999998543302453	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.73	3.63	0.40741	1.294000	0.32971	2.847000	0.35116	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.825000	0.38878	0.0:0.0:0.5991:0.4009	13.776	0.62543	247	0.90334	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2024.33	34	chr17	40554804	.	G	A	2024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.786;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr17	40699579	40699579	G	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.C1226A:p.A409D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.116628057487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.042	0.50226	D	0.101	0.25775	B	0.062	0.26930	B	.	.	.	.	0.995719	0.23220	N	0.85	0.21244	L	-2.38	0.88298	D	-2.1	0.47852	N	0.154	0.15888	-0.3769	0.72748	T	0.535	0.82772	D	9	0.13341108	0.25391	T	0.116628	0.79617	D	0.082	0.23913	0.399	0.42753	0.143124449307	0.13826	0.34295735388801607	0.34208	0.166981265206	0.18835	0.242681488395	0.03036	T	0.176018	0.52581	T	-0.0798587	0.39738	T	-0.352488	0.38921	T	0.128400114833634	0.15233	T	0.357364	0.08134	T	0.28330874	0.51364	0.23591535	0.48849	0.28330874	0.51364	0.23591535	0.48848	-6.175	0.47720	T	.	.	0.129	0.27702	B	.	.	1.756330	0.22343	15.58	0.95069961638529399	0.26109	0.17888	0.20030	N	AEFDBHCI	0.068494	0.13515	N	-0.864874617415417	0.11685	0.5653068	-0.874217768727312	0.12707	0.6551893	0.972366661571838	0.29365	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	1.07	0.19399	-0.182000	0.09720	0.155000	0.15338	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.0:0.3369:0.5244:0.1387	9.334	0.37198	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2185.33	39	chr17	40699579	.	G	T	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=848;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=2.52;SOR=0.758	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr17	40701246	40701246	C	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon3:c.G749A:p.G250D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	0.0081	0.00898562	0.0023	0.0256	0.0010	0	0	2.998e-05	0.0011	0	0.0022703	351	154602	rs7211480	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0239	0.0233	0.0253	0.0016	0	0	0	0.0007	3.058e-05	0.0018	1.16e-05	0.0073	0.0073	0.0077	0.0068	0.0257	0.0069	0.0068	0.0245	0.0239	0.0257	0	0.0018	0	0	0	0	2.94e-05	0.0024	0.0002	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.996117	0.43025	D	2.805	0.81760	M	-2.42	0.88611	D	-5.88	0.88699	D	0.688	0.69387	0.647	0.92510	D	0.776	0.92405	D	9	0.012286782	0.00265	T	.	.	.	0.432	0.73807	.	.	0.309839678437	0.30585	0.5763822820438408	0.57567	0.439650943213	0.43992	0.570298075676	0.48720	T	0.287485	0.66028	T	-0.27019	0.11736	T	-0.141289	0.60006	T	0.0489241487041797	0.05310	T	0.880612	0.59878	D	0.9009094	0.91464	0.9259098	0.96810	0.9009094	0.91465	0.9259098	0.96811	-10.272	0.75524	D	.	.	0.434	0.61383	A	.	.	4.204411	0.63475	24.6	0.99831237765948	0.91284	0.46476	0.27768	N	AEFBHCI	0.399695	0.47487	N	0.613429852993441	0.74021	6.062779	0.48824182691661	0.67208	5.053543	0.999331984803658	0.39185	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	2.213000	0.42483	4.905000	0.45897	0.596000	0.33519	0.111000	0.23011	1.000000	0.68203	0.758000	0.36073	0.0:1.0:0.0:0.0	20.173	0.98166	85	0.96447	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.010101	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1624.33	41	chr17	40701246	.	C	T	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.106;DP=840;ExcessHet=0;FS=1.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.584;SOR=0.559	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr17	40750953	40750953	C	A	splicing	KRT25	NM_181534:exon5:c.957+1G>T	.	.	Woolly hair, autosomal recessive 3, Autosomal recessive	436	1085	1	0	0	1	0.000460617	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381705	0.88818	D	0.310516	0.88677	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.818883	0.93690	33	0.99170220917469321	0.54355	0.97827	0.77425	D	AEFBI	.	.	.	1.0140291929147	0.96160	14.36875	0.837578632722359	0.92271	11.33051	0.999999906050853	0.74766	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.058706	0.01089	0	0.982021	0.88060	5.84	5.84	0.93373	5.765000	0.68486	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.402000	0.26827	0.0:1.0:0.0:0.0	20.153	0.98095	60	0.97424	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1530.33	33	chr17	40750953	.	C	A	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.07;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr17	40770263	40770263	-	T	exonic	KRT26	.	frameshift insertion	KRT26:NM_181539:exon3:c.670dupA:p.S224Kfs*3	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0	0.0032	0.0004786	74	154602	rs568008639	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0025	0.0024	2.987e-05	8.944e-05	0	0	0	0.0029	5.576e-05	0.0004	0.0028	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	7.223e-05	0	0.0001	0	0	0	0	8.823e-05	0.0005	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1635.29	33	chr17	40770263	.	C	CT	1635.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.278;DP=787;ExcessHet=0;FS=1.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.264;SOR=0.848	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1300	18	0	1	0
chr17	40771226	40771226	G	A	exonic	KRT26	.	nonsynonymous SNV	KRT26:NM_181539:exon2:c.C452T:p.A151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0228928454575	0.0025	0.00179712	0.0007	0.0072	9.239e-05	0	0	5.106e-05	0	0	0.0005369	83	154602	rs116825164	0.0002	0.0002	0.0002	0.0002	0.0076	0.0002	0.0002	0.0069	0.0066	0.0076	0.0001	0	0	3.759e-05	0.0002	1.916e-05	0.0003	3.56e-05	0.0022	0.0022	0.0024	0.0020	0.0076	0.0020	0.0019	0.0069	0.0066	0.0076	0	0.0007	0	0	0	0	7.351e-05	0.0009	0	0.122	0.27663	T	0.047	0.48855	D	0.061	0.23190	B	0.027	0.21085	B	0.660870	0.05979	N	1.191180	1	0.08975	N	0.93	0.23535	L	-2.44	0.88767	D	-2.1	0.47852	N	0.072	0.04547	-0.4639	0.69937	T	0.510	0.81589	D	10	0.011046588	0.00243	T	0.022893	0.45816	T	0.169	0.43123	.	.	0.115124310173	0.11017	0.046389588679306294	0.04582	0.0363285352544	0.03840	0.204920351505	0.00614	T	0.316731	0.68825	T	-0.481105	0.00728	T	-0.459705	0.26631	T	0.00429958839684007	0.00046	T	0.241376	0.03476	T	0.04829863	0.08396	0.055358283	0.09697	0.04829863	0.08396	0.055358283	0.09697	-6.101	0.47117	T	.	.	0.089	0.12276	B	.	.	-0.192310	0.03131	0.502	0.92187953741703554	0.21555	0.06372	0.12373	N	AEFBI	0.039288	0.05685	N	-0.908495401348524	0.10642	0.5095467	-0.955988876943237	0.10785	0.5454034	1.62849412198069E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	1.61	0.22752	-0.067000	0.11538	-1.250000	0.05908	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5372:0.0:0.4628:0.0	7.780	0.28223	63	0.97314	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002018	0.000000	0.004076	0.000000	0.000000	0.008621	0.003086	0.000000	0.02632	180.33	34	chr17	40771226	.	G	A	180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=588;ExcessHet=0;FS=1.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=0.183;SOR=1.099	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	18	0	1	0
chr17	40779575	40779575	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon5:c.C899T:p.A300V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.14225005127	.	.	2.473e-05	0	0	0	0	1.5e-05	0.0011	6.058e-05	1.94e-05	3	154602	rs772002793	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	0	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	0	0	0	0.009	0.57480	D	0.087	0.40747	T	0.883	0.48537	P	0.566	0.49756	P	0.000015	0.62929	D	0.000000	0.610194	0.30867	N	2.39	0.68882	M	-2.48	0.89071	D	-2.68	0.57275	D	0.109	0.09490	0.528	0.90935	D	0.682	0.89000	D	10	0.2694285	0.44469	T	0.14225	0.82464	D	0.461	0.75822	.	.	0.62465077226	0.62159	0.4731274374558862	0.47231	0.625028188271	0.56690	0.463449835777	0.33783	T	0.442073	0.78637	T	-0.0361819	0.46514	T	-0.120621	0.61751	T	0.861661314964294	0.51203	D	0.937406	0.76468	D	0.4473892	0.63876	0.54527634	0.73715	0.4473892	0.63877	0.54527634	0.73716	-7.402	0.56919	T	.	.	0.183	0.39630	B	.	.	3.825224	0.55259	23.6	0.99923230658057349	0.98917	0.33339	0.24804	N	ALL	0.151501	0.27600	N	0.103775436966709	0.46639	2.90116	0.0444480222828003	0.41804	2.517681	0.999999899400488	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.52	5.52	0.82153	-0.198000	0.09506	5.071000	0.47178	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.679000	0.33513	0.0:0.1514:0.8486:0.0	14.027	0.64111	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1654.33	37	chr17	40779575	.	G	A	1654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1081;ExcessHet=0;FS=1.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.129;SOR=0.52	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr17	40779628	40779628	C	T	splicing	KRT27	NM_181537:exon5:c.847-1G>A	.	.	.	427	1086	9	0	0	9	0.00412655	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151757	0.0077	9.696e-05	0.0003	0.0001	0	4.52e-05	0.0011	0.0561	0.0068175	1054	154602	rs187944199	0.0034	0.0034	0.0019	0.0049	0.0543	0.0033	0.0033	0.0530	0.0525	5.974e-05	8.946e-05	0	0	0	0.0028	2.338e-05	0.0039	0.0543	0.0018	0.0018	0.0009	0.0027	0.0541	0.0016	0.0015	0.0488	0.0467	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0383149	0.56825	T	0.323996	0.89257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.220290	0.94819	34	0.99456976980457279	0.65581	0.87659	0.47272	D	AEFDGBHCI	.	.	.	1.04428177177827	0.96953	15.37492	0.892118857653241	0.95220	13.41913	0.999999999682332	0.74766	0.095506	0.02484	0	0.078755	0.01978	0	0.134018	0.03721	0	0.109499	0.03221	0	0.985857	0.93731	5.52	5.52	0.82153	6.938000	0.75715	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	18.777	0.91881	65	0.97253	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3907.83	37	chr17	40779628	.	C	T	3907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.356;DP=1035;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.439;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1164:.	17	0	2	0
chr17	40779858	40779858	T	C	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon4:c.A688G:p.M230V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0331205182417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	0	2.778e-06	2.391e-05	2.3e-07	9e-08	3.97e-06	1.49e-06	0	0	0	0	0	0	0	0	2.391e-05	6.568e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.273	0.22154	T	0.019	0.17989	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.98653	0.40447	D	1.09	0.27330	L	-2.15	0.86481	D	-2.6	0.55983	D	0.311	0.35088	-0.4977	0.68733	T	0.398	0.74980	T	10	0.18106025	0.33320	T	0.033121	0.54755	D	0.435	0.74022	0.465	0.53566	0.594425430586	0.59120	0.2175462781810105	0.21670	0.626842915102	0.56799	0.531531453133	0.43250	T	0.456988	0.79553	T	0.145261	0.68823	D	-0.0291192	0.68427	D	0.891886293888092	0.54290	D	0.779322	0.41328	T	0.56355244	0.70705	0.6288173	0.78352	0.56355244	0.70707	0.6288173	0.78353	-5.315	0.40091	T	.	.	0.137	0.29941	B	.	.	3.701147	0.52790	23.3	0.98483658019478804	0.42014	0.89600	0.50168	D	AEFDBI	0.267463	0.38416	N	-0.371081745732319	0.26504	1.44703	-0.167865433998178	0.32726	1.864788	0.999793216770072	0.43153	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.38	5.38	0.77279	1.110000	0.30761	4.947000	0.46254	0.609000	0.47794	0.877000	0.30928	1.000000	0.68203	0.980000	0.58198	0.1361:0.0:0.0:0.8639	11.307	0.48576	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1537.33	37	chr17	40779858	.	T	C	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=915;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.269;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr17	40781218	40781218	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon2:c.C497T:p.A166V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.196208647561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.052e-06	0	2.756e-06	2.334e-05	2.3e-07	9e-08	3.88e-06	1.45e-06	0	0	0	0	0	0	0	0	2.334e-05	6.573e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.026	0.55759	D	0.985	0.61118	D	0.913	0.64886	D	0.000189	0.48115	D	0.091352	0.999956	0.52396	D	2.635	0.77114	M	-2.4	0.88455	D	-3.25	0.65283	D	0.545	0.57177	0.765	0.93983	D	0.811	0.93614	D	10	0.73202264	0.74363	D	0.196209	0.86466	D	0.626	0.85563	0.704	0.84054	0.706889111854	0.70433	0.31416322250799567	0.31329	0.523745419462	0.50081	0.459032773972	0.33177	T	0.458562	0.79649	T	0.185716	0.72569	D	0.0289911	0.72212	D	0.990779042243958	0.81006	D	0.889211	0.62120	D	0.42701626	0.62557	0.430403	0.66692	0.42701626	0.62557	0.430403	0.66692	-8.178	0.62276	D	.	.	0.300	0.52953	B	.	.	5.234798	0.87878	29.4	0.99901162030272417	0.97275	0.91525	0.53713	D	AEFDBI	0.531702	0.55187	D	0.688186661877352	0.78857	6.957037	0.646400946670509	0.78341	6.857181	0.999563141810396	0.40425	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	3.977000	0.56581	11.680000	0.94210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.087	0.86488	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1002.33	33	chr17	40781218	.	G	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.816;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1360	18	0	1	0
chr17	40822489	40822489	A	T	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.T97A:p.S33T,KRT10:NM_001379366:exon1:c.T97A:p.S33T	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1885821	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0148199778	7.7e-05	.	8.336e-05	0	0	0	0	0.0001	0	6.075e-05	6.47e-05	10	154602	rs141187850	7.116e-05	7.114e-05	6.263e-05	7.978e-05	0.0005	5.982e-05	5.59e-05	0.0002	0.0001	2.988e-05	0	0.0017	0	0	0.0005	2.158e-05	0.0002	0.0002	5.268e-05	5.256e-05	5.148e-05	5.393e-05	0.0001	2.562e-05	1.834e-05	2.265e-05	9.09e-06	0	0	0.0001	0.0006	0	0	0	4.413e-05	0.0005	0	0.187	0.21385	T	0.067	0.44302	T	0.546	0.38028	P	0.115	0.31843	B	0.245577	0.15618	N	0.478549	0.999969	0.52935	D	2.62	0.76659	M	-1.72	0.83241	D	-0.61	0.18042	N	0.178	0.19190	-0.7479	0.58045	T	0.270	0.64109	T	10	0.041095465	0.02735	T	0.01482	0.35183	T	0.212	0.50341	.	.	0.713321816834	0.71081	0.36363569135949936	0.36277	0.380450103368	0.39413	0.460277348757	0.33348	T	0.26935	0.64154	T	-0.234477	0.16062	T	-0.295152	0.45234	T	0.0646153207645467	0.07873	T	0.166083	0.01539	T	0.09027585	0.21120	0.12437895	0.29981	0.09027585	0.21119	0.12437895	0.29980	-5.256	0.39506	T	.	.	0.120	0.24733	B	.	.	1.604004	0.20502	14.78	0.95481202400395038	0.27044	0.33419	0.24823	N	AEFDGBHCI	0.117031	0.22943	N	-0.552681176853567	0.20400	1.075094	-0.491318131902917	0.22392	1.215979	0.999999995863019	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.425852	0.06454	2	0.564101	0.26826	0	.	.	5.52	3.15	0.35301	-0.522000	0.06323	1.626000	0.27713	0.731000	0.85647	0.000000	0.06391	0.807000	0.27003	0.394000	0.26647	0.5022:0.4978:0.0:0.0	12.838	0.57171	79	0.96716	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1863.33	43	chr17	40822489	.	A	T	1863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=960;ExcessHet=0;FS=9.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-1.212;SOR=0.772	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	40822542	40822542	C	T	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.G44A:p.R15H,KRT10:NM_001379366:exon1:c.G44A:p.R15H	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1572784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	.	0.0035	0.00179712	0.0008	0.0096	0.0002	0	0	0	0.0022	0	0.0008021	124	154602	rs28411890	0.0003	0.0003	0.0004	0.0003	0.0113	0.0003	0.0003	0.0104	0.0100	0.0113	0.0006	0	0	2.141e-05	0.0002	8.094e-06	0.0006	0.0001	0.0033	0.0033	0.0032	0.0034	0.0118	0.0031	0.0030	0.0110	0.0106	0.0118	0	0.0007	0	0	0	0	4.412e-05	0.0005	0	0.002	0.72154	D	0.013	0.63109	D	0.487	0.36886	P	0.023	0.19966	B	0.002424	0.36574	N	0.000000	1	0.81001	D	2.255	0.64187	M	-1.63	0.82440	D	-0.53	0.16393	N	0.435	0.47395	-0.6011	0.64772	T	0.206	0.56403	T	10	0.0059612393	0.00134	T	.	.	.	0.254	0.56428	.	.	0.784457406344	0.78246	0.2191276336105011	0.21828	0.522139247333	0.49956	0.638254761696	0.58315	T	0.195617	0.55175	T	-0.360289	0.04113	T	-0.279276	0.46878	T	0.0266682783504765	0.01498	T	0.381662	0.09243	T	0.07993022	0.18287	0.058725007	0.10899	0.07993022	0.18287	0.058725007	0.10899	-6.909	0.53365	T	.	.	0.188	0.40489	B	.	.	2.669619	0.34803	19.73	0.99685410908760408	0.79574	0.41947	0.26770	N	AEFDGBHCI	0.101220	0.20335	N	-0.176064789130352	0.34133	1.944607	-0.0404316708839568	0.37908	2.225941	0.999999999945927	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.586423	0.30347	0	0.564101	0.26826	0	.	.	5.52	4.55	0.55429	1.786000	0.38326	1.697000	0.28107	-0.228000	0.07776	0.931000	0.32310	0.909000	0.28100	0.010000	0.09038	0.1376:0.7904:0.0:0.072	10.017	0.41194	79	0.96716	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2541.33	43	chr17	40822542	.	C	T	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=931;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=2.08;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	40866168	40866168	C	A	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon2:c.G637T:p.D213Y	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3698357	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.795	0.088760197292	.	.	1.652e-05	0	0	0	0	1.502e-05	0	6.095e-05	1.29e-05	2	154602	rs765898284	1.847e-05	1.847e-05	1.225e-05	2.475e-05	0.0003	1.265e-05	1.084e-05	0.0001	8.646e-05	0	0	0	0	0	0.0003	7.195e-06	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000069	0.52346	D	0.000000	1	0.81001	D	4.31	0.98302	H	-2.61	0.89953	D	-8.33	0.97024	D	0.916	0.91852	1.055	0.98219	D	0.919	0.97314	D	10	0.9230248	0.91653	D	0.08876	0.75196	D	0.795	0.93266	0.748	0.87905	0.94934087018	0.94880	0.8756341733508284	0.87530	0.742486139256	0.63339	0.560935616493	0.47400	T	0.954954	0.99377	D	0.289645	0.82128	D	0.437958	0.93270	D	0.998221099376678	0.93561	D	0.986801	0.95481	D	0.96378773	0.97659	0.96705085	0.99331	0.96378773	0.97659	0.96705085	0.99331	-13.43	0.91056	D	0.8670017503858259	0.92880	0.749	0.86878	P	.;.;.	.;.;.	4.960732	0.82019	27.7	0.99379716429327591	0.61847	0.99577	0.97626	D	AEFBI	0.934136	0.92707	D	1.02656079185831	0.96504	14.77629	0.88846910911173	0.95050	13.26723	0.999999999980859	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.07	6.07	0.98675	7.687000	0.83428	4.840000	0.45276	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:1.0:0.0:0.0	20.659	0.99629	100	0.95872	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	965.33	33	chr17	40866168	.	C	A	965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.633;DP=724;ExcessHet=0;FS=6.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.469;SOR=0.792	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1236	18	0	1	0
chr17	40993808	40993808	C	T	exonic	KRTAP3-3	.	nonsynonymous SNV	KRTAP3-3:NM_033185:exon1:c.G290A:p.G97D	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00280950989534	7.7e-05	0.000199681	0.0006	9.632e-05	0.0009	0	0	0.0004	0	0.0024	0.0005433	84	154602	rs368702159	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0027	0.0023	5.974e-05	0.0005	0.0008	0	0	0.0040	0.0002	0.0009	0.0024	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0003	0.0012	0	0	0	0.0004	0.0019	0.0002	0.747	0.03620	T	0.152	0.32249	T	0.085	0.24868	B	0.057	0.26280	B	0.252389	0.15482	N	0.630917	0.992893	0.23807	N	.	.	.	1.87	0.24085	T	-0.82	0.22508	N	0.183	0.19861	-1.0386	0.17740	T	0.053	0.22307	T	9	0.013206512	0.00281	T	0.00281	0.05869	T	0.041	0.10877	.	.	0.314716216878	0.31082	0.09344851848870168	0.09276	0.34989876258	0.36836	0.30668258667	0.11406	T	0.005354	0.04800	T	-0.571177	0.00218	T	-0.599709	0.12835	T	0.0120510934403371	0.00191	T	.	.	.	0.048656538	0.08516	0.07998882	0.18057	0.048656538	0.08515	0.07998882	0.18056	-4.65	0.32794	T	.	.	0.085	0.10111	B	.	.	0.861408	0.12337	8.878	0.17646016997763231	0.00523	0.18353	0.20225	N	AEFGBI	0.072297	0.14424	N	-0.353712650571673	0.27136	1.48641	-0.290783467502863	0.28401	1.583308	0.00111137648523761	0.08239	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.79	4.8	0.61157	0.468000	0.21763	0.043000	0.13895	0.581000	0.30040	0.353000	0.25784	0.000000	0.08366	0.060000	0.15972	0.0:0.8968:0.0:0.1032	9.510	0.38234	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2037.33	38	chr17	40993808	.	C	T	2037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.666;DP=809;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.01;MQRankSum=-0.17;QD=13.32;ReadPosRankSum=0.394;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1364	18	0	1	0
chr17	41029780	41029780	G	A	exonic	KRTAP1-4	.	nonsynonymous SNV	KRTAP1-4:NM_001257305:exon1:c.C299T:p.P100L	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.035437870738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352875926	2.07e-06	2.737e-06	4.111e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.669e-05	1.206e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001055	0.40475	N	0.000000	.	.	.	3.295	0.90403	M	0.65	0.52642	T	-9.6	0.98526	D	0.736	0.73645	-0.4403	0.70720	T	0.226	0.59121	T	6	0.81892586	0.81110	D	0.035438	0.56343	D	0.278	0.59497	0.586	0.71371	0.529110813561	0.52559	0.15312982700578628	0.15234	0.00497184657375	0.00442	0.423657357693	0.28340	T	0.041731	0.25955	T	0.0694802	0.60785	D	-0.137973	0.60294	T	0.999636292457581	0.98254	D	.	.	.	0.7580087	0.81336	0.6720887	0.80755	0.7580087	0.81337	0.6720887	0.80756	-7.144	0.55078	T	.	.	0.231	0.46366	B	.	.	4.074027	0.60556	24.2	0.9989234801979362	0.96589	0.95803	0.66220	D	AEFGBI	0.472360	0.51750	N	0.387757075627922	0.60758	4.268322	0.434564922337925	0.63733	4.61292	0.261138650256259	0.18791	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	5.722000	0.68134	6.008000	0.52598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.0:0.0:1.0:0.0	13.627	0.61644	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2014.33	180	chr17	41029780	.	G	A	2014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=1738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.687;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:124:99:.:.:0,120,1800:.	18	0	1	0
chr17	41029781	41029781	G	A	exonic	KRTAP1-4	.	nonsynonymous SNV	KRTAP1-4:NM_001257305:exon1:c.C298T:p.P100S	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0188920150003	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047495410	8.969e-06	1.026e-05	1.507e-05	2.779e-06	3.613e-05	5.01e-06	3.86e-06	9.6e-06	4.66e-06	0	0	0	0	0	0	9.041e-06	0	3.613e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.033	0.53072	D	.	.	.	.	.	.	0.001055	0.40475	N	0.000000	.	.	.	2.32	0.66415	M	0.68	0.51952	T	-7.53	0.95131	D	0.652	0.66272	-0.6076	0.64503	T	0.174	0.51690	T	6	0.7922061	0.78758	D	0.018892	0.41097	T	0.256	0.56694	0.613	0.74652	0.497806138765	0.49414	0.1825686080511031	0.18175	0.00501422503611	0.00445	0.375363707542	0.21598	T	0.038019	0.24688	T	-0.139498	0.29970	T	-0.251619	0.49656	T	0.976952195167542	0.71617	D	.	.	.	0.67505205	0.76704	0.51746947	0.72121	0.67505205	0.76705	0.51746947	0.72121	-6.165	0.47639	T	.	.	0.267	0.50129	B	.	.	3.009910	0.40247	21.1	0.99906087013415534	0.97651	0.66003	0.32929	D	AEFGBI	0.136750	0.25752	N	0.234590733703464	0.52880	3.459704	0.266428805527146	0.53589	3.527158	6.79831669565314E-5	0.04366	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	3.53	0.39533	2.158000	0.41955	3.378000	0.37982	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.553000	0.30245	0.0:0.0:0.7839:0.2161	9.206	0.36451	438	0.80235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1700.33	122	chr17	41029781	.	G	A	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.49;DP=1764;ExcessHet=0;FS=6.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.776;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:124:99:.:.:0,120,1800:.	18	0	1	0
chr17	41034775	41034775	G	A	exonic	KRTAP1-3	.	nonsynonymous SNV	KRTAP1-3:NM_030966:exon1:c.C47T:p.T16I	.	414	1086	22	0	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00616161148791	0.0029	0.00139776	0.0033	0.0001	0.0015	0	0.0034	0.0052	0.0045	0.0007	0.0030724	475	154602	rs140428118	0.0035	0.0031	0.0034	0.0036	0.0121	0.0034	0.0034	0.0096	0.0087	0.0005	0.0025	0.0034	0	0.0034	0.0121	0.0038	0.0040	0.0011	0.0044	0.0040	0.0040	0.0049	0.0063	0.0041	0.0039	0.0057	0.0055	0.0012	0	0.0047	0.0023	0	0.0044	0.0130	0.0063	0.0083	0	0.12	0.27904	T	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	0.743898	0.29707	N	.	.	.	1.37	0.34253	T	-1.31	0.32791	N	0.228	0.25622	-1.0311	0.20099	T	0.050	0.21378	T	8	0.005829096	0.00130	T	0.006162	0.16141	T	0.029	0.06676	.	.	0.248133497653	0.24425	0.06156555784959568	0.06096	0.258331040614	0.28389	0.381383240223	0.22452	T	.	.	.	-0.486527	0.00679	T	-0.470272	0.25488	T	0.0153073632625618	0.00339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34294	B	.	.	2.005787	0.25488	16.78	0.95457174571845038	0.26985	0.17030	0.19658	N	AEFDBI	0.071516	0.14241	N	-0.394263843179692	0.25672	1.395377	-0.355069978165731	0.26352	1.455038	0.00418958942213618	0.10449	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.17	3.21	0.35933	1.841000	0.38881	0.707000	0.20898	0.675000	0.71128	0.891000	0.31220	0.305000	0.24241	0.007000	0.07825	0.109:0.0:0.891:0.0	8.085	0.29928	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.005848	0.000000	0.008621	0.024390	0.003788	0.03846	2137.07	41	chr17	41034775	.	G	A	2137.07	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.12;DP=1602;ExcessHet=0;FS=2.704;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.038;MQ=59.31;MQRankSum=2.9;QD=12.72;ReadPosRankSum=-2.228;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	12	0	1	6
chr17	41084538	41084538	G	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	399.12	17	chr17	41084538	.	G	*	399.12	.	AC=1;AF=0.038;AN=26;BaseQRankSum=3.41;DP=1823;ExcessHet=0.1336;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.038;MQ=58.07;MQRankSum=-6.776;QD=1.56;ReadPosRankSum=-1.867;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	12	0	1	6
chr17	41084544	41084544	G	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	487	882	17	18	118	171	0.029169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9420.03	111	chr17	41084544	.	G	*	9420.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.221;DP=2142;ExcessHet=0.0015;FS=2.5;InbreedingCoeff=0.6042;MLEAC=1;MLEAF=0.026;MQ=56.98;MQRankSum=0.711;QD=19.63;ReadPosRankSum=-2.541;SOR=0.89	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	18	0	1	0
chr17	41105541	41105541	G	0	exonic	KRTAP4-9	.	.	.	.	418	1058	39	5	2	51	0.0226328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4186.43	101	chr17	41105541	.	G	*	4186.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=2607;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-0.624;QD=6.3;ReadPosRankSum=1.03;SOR=0.712	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	18	0	1	0
chr17	41105840	41105840	G	A	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.G452A:p.R151H,LOC100996750:NM_001365252:exon2:c.G437A:p.R146H	.	406	1085	31	0	0	31	0.0140845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00611340246952	.	0.000998403	0.0006	0.0053	0.0002	0.0010	0	5.124e-05	0	0.0009	0.000401	62	154602	rs538241229	0.0004	0.0007	0.0003	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	0.0071	0.0005	3.85e-05	0.0014	0	0.0004	6.86e-05	0.0006	0.0010	0.0024	0.0058	0.0025	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0007	0.0003	0.0008	0	0	0.0001	0	0.0011	0.099	0.30656	T	0.089	0.40426	T	0.003	0.11197	B	0.001	0.04355	B	0.586011	0.05564	N	1.407670	1	0.08975	N	1.945	0.52268	M	6.27	0.00562	T	-2.83	0.59710	D	0.082	0.14054	-0.8668	0.50768	T	0.003	0.01092	T	10	0.006554723	0.00149	T	0.006113	0.15993	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.049534052917623625	0.04896	0.221867951472	0.24722	0.184167638421	0.00138	T	0.041834	0.25987	T	-0.672734	0.00053	T	-0.733562	0.04168	T	0.0181985586081498	0.00541	T	0.0573943	0.00475	T	0.04352815	0.06798	0.06497193	0.13102	0.04352815	0.06798	0.06497193	0.13101	-7.893	0.60339	D	.	.	0.102	0.18910	B	.;.	.;.	1.974451	0.25085	16.63	0.95294399281926812	0.26605	0.01576	0.05139	N	AEFGBI	0.031699	0.03440	N	-0.750597956960849	0.14617	0.7296202	-0.844697173013674	0.13414	0.6957837	3.92456541770032E-4	0.06820	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.18	1.09	0.19517	-0.814000	0.04593	-1.350000	0.05649	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.25:0.2029:0.5471:0.0	3.801	0.08276	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	36	chr17	41105840	.	G	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.34;DP=1210;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.05;MQRankSum=-6.047;QD=0.18;ReadPosRankSum=1.5;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575:.	18	0	1	0
chr17	41105849	41105849	-	CAGCATCTC	exonic	KRTAP4-9;LOC100996750	.	nonframeshift insertion	KRTAP4-9:NM_001146041:exon1:c.461_462insCAGCATCTC:p.S158_C159insISS,LOC100996750:NM_001365252:exon2:c.446_447insCAGCATCTC:p.C149_C150insSIS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1962.29	36	chr17	41105849	.	G	GCAGCATCTC	1962.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=1076;ExcessHet=0;FS=4.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.99;MQRankSum=-3.384;QD=15.09;ReadPosRankSum=-0.275;SOR=0.418	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr17	41123818	41123818	C	T	exonic	KRTAP4-12	.	nonsynonymous SNV	KRTAP4-12:NM_031854:exon1:c.G305A:p.R102H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0034	0.00119808	0.0050	0.0004	0.0007	0	0.0208	0.0064	0.0079	0.0015	0.0040232	622	154602	rs200657918	0.0020	0.0020	0.0018	0.0021	0.0015	0.0019	0.0019	0.0014	0.0014	0	0.0008	0.0072	5.04e-05	0.0157	0	0.0015	0.0016	0.0010	0.0042	0.0046	0.0038	0.0047	0.0052	0.0039	0.0038	0.0048	0.0046	0.0005	0.0011	0.0024	0.0125	0	0.0165	0.0034	0.0052	0.0019	0.0011	0.08	0.33585	T	0.076	0.42614	T	0.001	0.07471	B	0.0	0.01387	B	0.645414	0.05891	U	1.263490	1	0.08975	N	2.995	0.85803	M	6.35	0.00549	T	-3.21	0.64826	D	0.067	0.03956	-0.9611	0.38974	T	0.003	0.00897	T	10	0.0074228644	0.00169	T	.	.	.	0.036	0.09122	.	.	0.465138348474	0.46142	0.07038911407437455	0.06975	0.0381829246423	0.04056	0.182914882898	0.00124	T	0.167722	0.51445	T	-0.65578	0.00067	T	-0.708644	0.05365	T	0.0619028380291112	0.07465	T	.	.	.	0.04194584	0.06271	0.08594223	0.19877	0.04194584	0.06271	0.08594223	0.19877	-10.749	0.78263	D	.	.	0.173	0.38025	B	.	.	-0.284855	0.02684	0.347	0.72841220925853634	0.10115	0.00856	0.03410	N	AEFBI	0.022926	0.01208	N	-1.35030861555699	0.03122	0.1389388	-1.53119175813612	0.02108	0.09646297	0.0211054300738595	0.13320	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.29	-4.59	0.03158	-2.124000	0.01405	-14.222000	0.00415	-2.740000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1645:0.4861:0.0:0.3494	3.848	0.08453	259	0.89842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	5473.83	35	chr17	41123818	.	C	T	5473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.12;DP=1249;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=0.754;QD=9.97;ReadPosRankSum=0.873;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1283	17	0	2	0
chr17	41167871	41167871	C	T	exonic	KRTAP4-3	.	nonsynonymous SNV	KRTAP4-3:NM_033187:exon1:c.G302A:p.R101H	.	448	1012	56	6	0	68	0.0325048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0071	0.00698882	0.0079	0.0018	0.0033	0.0004	0.0024	0.0084	0.0076	0.0179	0.0064423	996	154602	rs143200002	0.0038	0.0037	0.0033	0.0042	0.0251	0.0037	0.0036	0.0215	0.0201	0.0012	0.0020	0.0021	7.623e-05	0.0021	0.0251	0.0033	0.0047	0.0129	0.0065	0.0065	0.0066	0.0063	0.0189	0.0061	0.0060	0.0157	0.0146	0.0018	0.0022	0.0053	0.0029	0.0004	0.0016	0.0310	0.0098	0.0114	0.0189	0.061	0.37118	T	0.039	0.51112	D	0.518	0.37483	P	0.076	0.28435	B	0.011693	0.29437	U	0.000000	1	0.08975	N	3.58	0.93551	H	4.87	0.01449	T	-3.2	0.64710	D	0.06	0.03175	-0.9705	0.37094	T	0.006	0.01907	T	10	0.0060154498	0.00135	T	.	.	.	0.108	0.30607	.	.	0.27479166964	0.27093	0.05665735460135568	0.05606	0.0258765225282	0.02640	0.1833358109	0.00128	T	0.034654	0.23405	T	-0.48063	0.00733	T	-0.458182	0.26797	T	0.0535494363800892	0.06113	T	0.114489	0.00870	T	0.08230956	0.18956	0.1222704	0.29494	0.08230956	0.18956	0.1222704	0.29493	-8.921	0.67187	D	.	.	0.218	0.44758	B	.	.	1.382789	0.17947	13.46	0.92627092135174738	0.22097	0.03687	0.08959	N	AEFDBI	0.038029	0.05321	N	-0.509054315330663	0.21786	1.158767	-0.647242879890709	0.18287	0.9762053	1.44131263787327E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.55	1.33	0.20958	-2.123000	0.01406	.	.	0.575000	0.29119	0.000000	0.06391	.	.	0.913000	0.44837	0.1513:0.674:0.0:0.1747	5.927	0.18355	266	0.89551	.	.	.	KRT31	Brain_Cerebellar_Hemisphere	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.042843	0.045455	0.027174	0.064706	0.000000	0.068966	0.051829	0.049242	0.02632	1622.33	33	chr17	41167871	.	C	T	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.268;DP=754;ExcessHet=0;FS=2.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.37;MQRankSum=-1.025;QD=12.67;ReadPosRankSum=-0.868;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	174.11	471	chr17	41226817	.	A	G	174.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.94;DP=5719;ExcessHet=0;FS=31.807;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.029;MQ=56.81;MQRankSum=-9.456;QD=0.57;ReadPosRankSum=-4.133;SOR=4.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:353,0:353:99:.:.:0,120,1800:.	16	0	1	2
chr17	41238106	41238106	T	G	exonic	KRTAP9-8	.	nonsynonymous SNV	KRTAP9-8:NM_031963:exon1:c.T55G:p.W19G	.	.	.	.	.	.	.	.	.	.	.	2345615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00838333134825	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs750597696	8.227e-05	8.214e-05	5.458e-05	0.0001	0.0015	7.017e-05	6.567e-05	0.0007	0.0005	9.51e-05	4.474e-05	0.0010	0	0	0.0015	5.576e-05	0.0001	0.0001	8.065e-05	7.983e-05	6.574e-05	9.623e-05	8.822e-05	4.592e-05	3.588e-05	3.763e-05	2.575e-05	0	0	0	0.0012	0	0	0.0068	8.822e-05	0	0	0.158	0.23905	T	0.065	0.44702	T	0.024	0.19075	B	0.036	0.22909	B	.	.	.	.	0.985184	0.24733	N	1.845	0.48678	L	5.03	0.01287	T	-5.14	0.83292	D	0.412	0.45237	-0.9113	0.46694	T	0.004	0.01192	T	9	0.04024905	0.02578	T	0.008383	0.22181	T	0.045	0.12272	.	.	0.0401082797425	0.02173	0.11215841052296523	0.11144	0.376893372235	0.39126	0.227066263556	0.01758	T	0.046074	0.27314	T	-0.390381	0.02675	T	-0.561863	0.16202	T	0.0904401805177268	0.11270	T	0.267973	0.04452	T	0.28445032	0.51472	0.37560046	0.62701	0.28445032	0.51472	0.37560046	0.62700	-8.053	0.61431	D	.	.	0.206	0.43227	B	.	.	1.744439	0.22197	15.52	0.91503556622030535	0.20777	0.21663	0.21481	N	AEFI	0.040839	0.06131	N	-0.617094851084336	0.18429	0.9568121	-0.513431257512295	0.21788	1.180326	2.61713016571392E-4	0.06244	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.79	2.79	0.31792	0.436000	0.21244	0.739000	0.21146	0.509000	0.23192	0.051000	0.21449	0.667000	0.26046	0.310000	0.24737	0.0:0.0:0.0:1.0	9.373	0.37430	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4139.33	33	chr17	41238106	.	T	G	4139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.579;DP=1013;ExcessHet=0;FS=0.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=-0.379;QD=12.82;ReadPosRankSum=1.05;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1365	18	0	1	0
chr17	41249756	41249756	-	TGCTGCAGGACCACC	exonic	KRTAP9-4	.	nonframeshift insertion	KRTAP9-4:NM_033191:exon1:c.36_37insTGCTGCAGGACCACC:p.C23_W24insCRTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0030	0	0	0	0.0001	0.0001153	3	26028	rs756692098	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0	6.71e-05	0	0.0070	3.746e-05	0.0002	1.709e-05	6.642e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	8.726e-05	0.0027	0.0023	0	0	0	0	0.0041	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4205.29	405	chr17	41249756	.	A	ATGCTGCAGGACCACC	4205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=4167;ExcessHet=0;FS=6.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.26;MQRankSum=-12.55;QD=17.67;ReadPosRankSum=-1.068;SOR=1.068	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	18	0	1	0
chr17	41308185	41308185	G	T	exonic	KRTAP16-1	.	nonsynonymous SNV	KRTAP16-1:NM_001146182:exon1:c.C1069A:p.L357I	.	425	986	104	6	1	117	0.0555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0050	0	0.0034	0	0.0172	0.0079	0.0097	0.0012	0.0007956	123	154602	rs72828116	0.0029	0.0028	0.0028	0.0030	0.0023	0.0028	0.0028	0.0023	0.0022	9.494e-05	0.0006	0.0110	0	0.0189	0.0002	0.0023	0.0023	0.0019	0.0043	0.0043	0.0038	0.0048	0.0043	0.0040	0.0039	0.0039	0.0037	0.0003	0.0813	0.0018	0.0104	0	0.0193	0	0.0043	0.0014	0.0015	0.473	0.08408	T	0.459	0.12632	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	1.455	0.36767	L	5.6	0.00825	T	-0.44	0.14588	N	0.184	0.19995	-0.8581	0.51398	T	0.003	0.00994	T	7	0.0025836527	0.00039	T	.	.	.	0.057	0.16321	.	.	0.0666544352282	0.05500	0.03178503481303741	0.03127	.	.	0.27059918642	0.06219	T	0.005546	0.05002	T	-0.67399	0.00052	T	-0.734235	0.04138	T	0.0225514295463408	0.00971	T	.	.	.	0.038495883	0.05140	0.038298864	0.03669	0.038495883	0.05140	0.038298864	0.03668	-2.846	0.08615	T	.	.	0.084	0.09772	B	.	.	0.804710	0.11755	8.330	0.76621386020564053	0.11542	0.75406	0.36918	D	AEFDGBIJ	0.125373	0.24185	N	-0.268960087564811	0.30354	1.691699	-0.275904001523394	0.28893	1.614572	0.999980917761901	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	2.76	0.31527	0.947000	0.28680	2.594000	0.33484	0.618000	0.50648	0.050000	0.21411	0.210000	0.23636	0.334000	0.25294	0.0943:0.3648:0.5409:0.0	6.864	0.23264	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7317.7	169	chr17	41308185	.	G	T	7317.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=1282;ExcessHet=0.7564;FS=3.232;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.042;SOR=0.492	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1259	18	0	1	0
chr17	41346879	41346879	C	T	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon5:c.G841A:p.A281T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.0387480910089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.16251	T	0.29	0.21011	T	0.006	0.13644	B	0.042	0.24114	B	0.000004	0.62929	D	0.000000	0.776793	0.34217	D	0.64	0.16041	N	-2.47	0.88997	D	-2.04	0.46842	N	0.217	0.24260	-0.1897	0.77935	T	0.487	0.80471	T	10	0.20504948	0.36718	T	0.038748	0.58406	D	0.331	0.65325	0.435	0.48664	0.322510055762	0.31862	0.09452545469683578	0.09384	0.18364246762	0.20656	0.484185039997	0.36634	T	0.442148	0.78642	T	-0.0464119	0.44989	T	-0.304444	0.44254	T	0.460510104894638	0.31183	T	.	.	.	0.17433828	0.38233	0.20743208	0.45001	0.17433828	0.38232	0.20743208	0.45000	-4.588	0.32020	T	.	.	0.079	0.07224	B	.	.	1.677180	0.21378	15.17	0.9964734549018599	0.77068	0.29361	0.23801	N	AEFBI	0.248916	0.36924	N	-0.408416066334419	0.25174	1.364588	-0.285077241509025	0.28590	1.595237	0.0373264080810927	0.14291	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	0.390000	0.20494	-1.565000	0.05159	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.0:0.9127:0.0:0.0873	12.107	0.53117	112	0.95438	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2360.33	72	chr17	41346879	.	C	T	2360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=928;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.44;MQRankSum=1.4;QD=11.4;ReadPosRankSum=0.77;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	18	0	1	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018499	0.015152	0.013587	0.008197	0.050000	0.017241	0.030488	0.015152	0.02632	2066.33	34	chr17	41350572	.	G	A	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.27;DP=1224;ExcessHet=0;FS=2.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.523;SOR=0.94	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr17	41350671	41350671	C	T	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.G97A:p.G33R	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	.	0.0002	0.0117812	0.0046	0.0002	8.64e-05	0	0	0	0	0.0331	0.0040556	627	154602	rs373657561	0.0020	0.0020	0.0012	0.0028	0.0315	0.0019	0.0019	0.0305	0.0301	0.0006	0.0001	0	0	0	0.0002	6.205e-05	0.0022	0.0315	0.0012	0.0012	0.0010	0.0014	0.0339	0.0011	0.0010	0.0297	0.0280	0.0004	0	0	0	0	0	0	5.881e-05	0	0.0339	0.038	0.42783	D	0.075	0.42794	T	0.966	0.56202	D	0.739	0.55653	P	0.000003	0.62929	D	0.000000	0.98382	0.40064	D	3.185	0.88900	M	-1.63	0.82440	D	-4.76	0.80340	D	0.487	0.52119	0.418	0.89372	D	0.650	0.87792	D	10	0.0069600344	0.00158	T	.	.	.	0.528	0.80067	0.304	0.27325	0.523806315272	0.52025	0.8685496233580762	0.86819	0.188998635746	0.21219	0.677276432514	0.63878	T	0.456617	0.79531	T	-0.14105	0.29723	T	0.0482994	0.73470	D	0.0938613073260472	0.11668	T	.	.	.	0.3682893	0.58457	0.41920948	0.65922	0.3682893	0.58458	0.41920948	0.65922	-4.697	0.33367	T	.	.	0.490	0.64117	A	.	.	4.473641	0.69731	25.4	0.99787543142408075	0.87396	0.98283	0.81242	D	AEFBI	0.534415	0.55347	D	0.605713078235576	0.73537	5.982084	0.557563919299884	0.71923	5.729711	0.142749172670898	0.17303	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	0.585000	0.23580	1.573000	0.27428	0.594000	0.32500	0.001000	0.13787	0.544000	0.25431	0.918000	0.45347	0.0:1.0:0.0:0.0	15.701	0.77301	150	0.94078	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003634	0.000000	0.000000	0.003546	0.000000	0.000000	0.000000	0.015152	0.02632	1451.33	34	chr17	41350671	.	C	T	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=1286;ExcessHet=0;FS=9.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.146;SOR=1.275	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr17	41379053	41379053	G	A	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1126T:p.R376W	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0847181783815	0.0052	0.00459265	0.0056	0.0009	0.0039	0.0055	0.0015	0.0075	0.0088	0.0038	0.0055303	855	154602	rs61740668	0.0069	0.0069	0.0070	0.0069	0.0127	0.0068	0.0068	0.0118	0.0114	0.0011	0.0052	0.0240	0.0127	0.0026	0.0052	0.0070	0.0071	0.0035	0.0057	0.0057	0.0056	0.0057	0.0095	0.0054	0.0052	0.0083	0.0078	0.0012	0.0406	0.0095	0.0256	0.0066	0.0026	0.0068	0.0066	0.0066	0.0037	.	.	.	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000017	0.62929	D	0.000000	0.879976	0.35731	D	3.67	0.94359	H	-2.67	0.90332	D	.	.	.	0.543	0.57006	0.203	0.85955	D	0.426	0.76923	T	9	0.013114721	0.00279	T	0.084718	0.74385	D	0.222	0.51872	.	.	0.731110952816	0.72872	0.3701867927902465	0.36932	0.293471440476	0.31769	0.492708265781	0.37814	T	0.620672	0.88105	D	-0.196695	0.21282	T	-0.0474956	0.67193	D	0.101185565475117	0.12487	T	0.863714	0.56064	D	0.8836848	0.89973	0.8493041	0.91458	0.8836848	0.89974	0.8493041	0.91458	-9.505	0.70890	D	.	.	0.285	0.51712	B	.	.	4.962455	0.82058	27.7	0.99918646325503013	0.98586	0.87165	0.46623	D	AEFDGBI	0.779206	0.71148	D	0.685785271911259	0.78702	6.924894	0.561706923453328	0.72217	5.774892	0.938938204476246	0.27365	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	4.02	0.45968	0.485000	0.22033	2.819000	0.34952	0.671000	0.69459	0.056000	0.21631	1.000000	0.68203	0.991000	0.66497	0.0:0.1442:0.7244:0.1314	11.153	0.47694	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003704	0.000000	0.006793	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	3643.33	37	chr17	41379053	.	G	A	3643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=924;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=-0.922;QD=13.96;ReadPosRankSum=-0.499;SOR=0.764	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1368	18	0	1	0
chr17	41379113	41379113	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.G1066A:p.V356M	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00579073	0.0024	0	8.637e-05	0.0302	0	0.0002	0.0011	0.0011	0.0022251	344	154602	rs148645199	0.0009	0.0009	0.0010	0.0009	0.0276	0.0009	0.0009	0.0262	0.0257	0	4.472e-05	0.0031	0.0276	0	0.0002	1.888e-05	0.0013	0.0010	0.0010	0.0010	0.0010	0.0010	0.0257	0.0009	0.0008	0.0221	0.0208	0	0	0	0.0029	0.0257	0	0	4.41e-05	0	0.0012	.	.	.	0.555	0.09267	T	0.024	0.19075	B	0.062	0.26930	B	0.009278	0.30438	N	0.234157	0.985026	0.24748	N	-0.95	0.01262	N	-2.48	0.89071	D	.	.	.	0.229	0.25745	-0.9838	0.34116	T	0.006	0.02206	T	9	0.008939803	0.00202	T	.	.	.	0.024	0.04979	.	.	0.255777322467	0.25185	0.10690974598968886	0.10620	0.0552089449468	0.06109	0.46092659235	0.33437	T	0.110092	0.42451	T	-0.449949	0.01130	T	-0.396784	0.33759	T	0.00646675409805137	0.00072	T	0.762924	0.38892	T	0.028923761	0.02306	0.04457378	0.05806	0.028923761	0.02306	0.04457378	0.05805	-5.001	0.36851	T	.	.	0.182	0.39477	B	.	.	-1.250542	0.00482	0.010	0.073145266585711813	0.00039	0.10519	0.16003	N	AEFDGBI	0.054249	0.09847	N	-1.38998069614707	0.02731	0.1210226	-1.24328460578461	0.05231	0.248761	0.00949678406048289	0.11864	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.759	0.17584	-1.510000	0.02366	-15.051000	0.00374	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.1592:0.4544:0.0:0.3864	4.095	0.09460	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	4527.33	363	chr17	41379113	.	C	T	4527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=1250;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.042;QD=12.47;ReadPosRankSum=0.373;SOR=0.689	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1368	18	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	293.7	37	chr17	41382308	.	A	G	293.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.883;DP=1756;ExcessHet=0.7564;FS=118.901;InbreedingCoeff=-0.1222;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.236;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:149,28:177:8:0|1:41382308_A_G:0,8,5376:41382308	15	0	4	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	438.61	37	chr17	41382311	.	C	G	438.61	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-6.381;DP=1894;ExcessHet=0.7564;FS=117.824;InbreedingCoeff=-0.1166;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.649;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:149,27:176:15:0|1:41382308_A_G:0,15,5386:41382308	15	0	4	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	223.85	37	chr17	41382313	.	C	G	223.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.772;DP=1135;ExcessHet=0.119;FS=108.185;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.015;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,108,1620:.	18	0	1	0
chr17	41424343	41424343	G	A	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.C181T:p.P61S	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00819086165742	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0023	0.0033	0.0004	0.0013001	201	154602	rs140747125	0.0014	0.0014	0.0013	0.0014	0.0128	0.0013	0.0013	0.0105	0.0096	0.0007	0.0012	0.0039	0	0.0005	0.0128	0.0014	0.0017	0.0005	0.0012	0.0012	0.0015	0.0010	0.0018	0.0011	0.0010	0.0015	0.0014	0.0003	0	0.0013	0.0058	0	0.0007	0	0.0018	0.0019	0.0002	0.392	0.10766	T	0.26	0.23029	T	0.208	0.29916	B	0.029	0.21540	B	0.005220	0.32996	N	0.139318	1	0.08975	N	1.32	0.33002	L	-1.46	0.80983	T	-0.96	0.25551	N	0.164	0.17278	-0.9296	0.44197	T	0.205	0.56376	T	10	0.012026131	0.00260	T	0.008191	0.21700	T	0.086	0.25016	.	.	0.351830644314	0.34792	0.10540859306491256	0.10470	0.0749227178598	0.08402	0.399715781212	0.25029	T	0.011377	0.10158	T	-0.439226	0.01307	T	-0.409861	0.32240	T	0.00179616865786308	0.00018	T	.	.	.	0.023317413	0.01061	0.030227507	0.01453	0.023317413	0.01061	0.030227507	0.01453	-2.533	0.06011	T	.	.	0.097	0.16010	B	.	.	0.497711	0.08667	5.440	0.85855578787782683	0.16155	0.04340	0.09903	N	AEFBI	0.037890	0.05280	N	-0.951720951188039	0.09654	0.4578506	-0.960944658818885	0.10670	0.5388846	1.72231900435501E-5	0.02871	0.497415	0.19182	0	0.55458	0.17659	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	1.83	0.24279	0.023000	0.13424	-0.034000	0.12756	0.671000	0.69459	0.002000	0.15269	0.000000	0.08366	0.076000	0.17014	0.1088:0.1903:0.5327:0.1682	3.101	0.05943	209	0.91859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.012228	0.017544	0.000000	0.025862	0.012195	0.003788	0.02632	3567.33	253	chr17	41424343	.	G	A	3567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=3315;ExcessHet=0;FS=7.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.867;SOR=0.451	GT:AD:DP:GQ:PL	0/0:204,0:204:99:0,120,1800	18	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.02632	4666.33	43	chr17	41487406	.	T	A	4666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=919;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=-0.735;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,102,1530:.	18	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.02632	4666.33	43	chr17	41487407	.	C	A	4666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=919;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=-0.392;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,102,1530:.	18	0	1	0
chr17	41502715	41502715	T	C	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon5:c.A995G:p.E332G,KRT13:NM_153490:exon5:c.A995G:p.E332G	White sponge nevus 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3185832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.742	0.210968047528	0.0004	0.000998403	0.0001	0.0013	0.0003	0	0	1.499e-05	0	0	0.0001423	22	154602	rs141462482	5.951e-05	5.951e-05	6.534e-05	5.363e-05	0.0016	4.883e-05	4.561e-05	0.0012	0.0011	0.0016	0.0002	0	0	0	0	7.194e-06	0.0002	1.159e-05	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0010	0.0009	0.0012	0	0.0005	0	0	0	0.0034	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000301	0.46274	D	0.000000	0.997465	0.43910	D	4.035	0.96960	H	-2.59	0.89822	D	-6.65	0.92260	D	0.653	0.68690	0.735	0.93612	D	0.791	0.92917	D	10	0.2050761	0.36722	T	0.210968	0.87280	D	0.742	0.91069	.	.	0.969111081713	0.96877	0.07740947727549337	0.07676	0.527981272064	0.50389	0.579383730888	0.49999	T	0.699968	0.93985	D	-0.0924316	0.37675	T	0.0489002	0.73512	D	0.310400426811829	0.25431	T	0.868613	0.57103	D	0.9085512	0.92160	0.9135648	0.95941	0.9085512	0.92161	0.9135648	0.95942	-11.302	0.81288	D	.	.	0.814	0.77965	P	.;.;.	.;.;.	5.443867	0.90971	32	0.99919821423667821	0.98654	0.97162	0.73054	D	AEFBI	0.796212	0.72341	D	0.752227946226232	0.83051	7.916704	0.654259338396397	0.78928	6.976071	0.66228092078593	0.22284	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	6.264000	0.72490	7.846000	0.70742	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	12.725	0.56534	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2627.33	39	chr17	41502715	.	T	C	2627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.243;DP=862;ExcessHet=0;FS=1.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.639;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	18	0	1	0
chr17	41515625	41515625	T	C	exonic	KRT15	.	nonsynonymous SNV	KRT15:NM_002275:exon6:c.A1094G:p.Q365R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.188937355335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235585568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.005	0.65419	D	0.016	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000270	0.46590	D	0.000000	0.99967	0.48205	D	2.67	0.78151	M	-2.49	0.89145	D	-3.76	0.71276	D	0.452	0.56317	0.847	0.94991	D	0.825	0.94118	D	10	0.9535404	0.94702	D	0.188937	0.86032	D	0.882	0.96539	0.843	0.94784	0.9303101047	0.92959	0.5513576683853928	0.55061	0.545423859402	0.51576	0.519266963005	0.41523	T	0.506617	0.87522	D	0.246315	0.78253	D	0.116038	0.77970	D	0.994656920433044	0.86077	D	0.859214	0.60074	D	0.77852523	0.82563	0.7120853	0.83013	0.77852523	0.82565	0.7120853	0.83014	-10.457	0.76600	D	.	.	0.302	0.55438	B	.;.;.;.	.;.;.;.	4.836327	0.78912	27.0	0.99816807675915209	0.89973	0.97138	0.72912	D	AEFDBI	0.703545	0.65955	D	0.699634249060964	0.79606	7.113744	0.625101050360354	0.76768	6.552206	0.999162108950278	0.38622	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.59	4.59	0.56297	4.970000	0.63456	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.161	0.64979	424	0.81215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1852.33	33	chr17	41515625	.	T	C	1852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.69;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1391	18	0	1	0
chr17	41515664	41515664	T	A	exonic	KRT15	.	nonsynonymous SNV	KRT15:NM_002275:exon6:c.A1055T:p.E352V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.290107786065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000131	0.49741	D	0.000000	0.999965	0.52935	D	3.675	0.94400	H	-3.23	0.93414	D	-6.31	0.90812	D	0.66	0.66959	1.066	0.98474	D	0.917	0.97264	D	10	0.9552196	0.94880	D	0.290108	0.90534	D	0.869	0.96059	0.801	0.92017	0.954731915831	0.95425	0.6477650726519842	0.64711	0.545570971901	0.51584	0.442070305347	0.30860	T	0.749987	0.95523	D	0.365327	0.87652	D	0.28699	0.87493	D	0.997475922107697	0.91644	D	0.956904	0.83719	D	0.8658309	0.88534	0.7651921	0.86129	0.8658309	0.88536	0.7651921	0.86130	-10.757	0.78308	D	.	.	0.555	0.68846	A	.;.;.;.	.;.;.;.	4.913353	0.80858	27.4	0.99358699645631177	0.60904	0.98933	0.88820	D	AEFDBI	0.823793	0.74383	D	0.735983877278266	0.81990	7.653333	0.602948930722178	0.75155	6.260589	0.999436863746163	0.39683	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	6.153000	0.71612	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.637000	0.32341	0.0:0.0:0.0:1.0	14.425	0.66780	423	0.81269	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1177.33	33	chr17	41515664	.	T	A	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.184;DP=728;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.943;SOR=0.387	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1391	18	0	1	0
chr17	41571455	41571455	C	T	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.G538A:p.D180N	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1395080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0599202624098	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs763464432	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.216	0.26226	T	0.031	0.20130	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.94	0.23649	L	-2.17	0.86624	D	-3.18	0.64478	D	0.082	0.05799	-0.6655	0.62031	T	0.435	0.77555	T	9	0.4853483	0.60675	T	0.05992	0.67828	D	0.157	0.40909	0.468	0.54052	0.678050635466	0.67531	0.6955939547692577	0.69500	0.0829047847231	0.09354	0.22137761116	0.01391	T	0.769966	0.93835	D	-0.177445	0.24117	T	-0.492664	0.23112	T	0.0722286908743242	0.08961	T	0.837516	0.51030	T	0.12815705	0.29969	0.124654196	0.30044	0.12815705	0.29968	0.124654196	0.30044	-5.783	0.44426	T	0.23862463621140434	0.32319	0.098	0.16363	B	.	.	0.075777	0.04829	1.431	0.98482409702665585	0.41990	0.08535	0.14451	N	AEFBI	0.128546	0.24636	N	-1.28715804535096	0.03829	0.1717587	-1.37208300600823	0.03552	0.1659334	0.00119376659736849	0.08324	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.64	-2.57	0.05885	-2.081000	0.01454	-2.617000	0.03544	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.0:0.5116:0.1079:0.3805	6.963	0.23787	276	0.89131	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1274.33	33	chr17	41571455	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=727;ExcessHet=0;FS=3.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.207;SOR=0.482	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr17	41571970	41571970	G	A	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.C23T:p.S8L	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2286636	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0336397173216	.	.	2.758e-05	0	0.0004	0	0	0	0	0	6.5e-06	1	154602	rs759755813	6.98e-05	6.977e-05	7.61e-05	6.339e-05	0.0003	5.83e-05	5.435e-05	0.0001	0.0001	0	0.0003	3.916e-05	7.74e-05	0	0	7.733e-05	0	0	3.286e-05	3.283e-05	2.57e-05	4.036e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	0.007	0.14184	B	0.003	0.08700	B	0.013321	0.28882	N	0.000000	1	0.08975	N	1.585	0.39878	L	-1.49	0.81235	T	-1.77	0.41809	N	0.209	0.23253	-0.7878	0.55857	T	0.275	0.64629	T	10	0.091504455	0.16035	T	0.03364	0.55122	D	0.290	0.60924	0.344	0.33788	0.73944703742	0.73710	0.23529997843731423	0.23444	0.063627187858	0.07085	0.452140629292	0.32236	T	0.434648	0.78166	T	-0.199497	0.20877	T	-0.239627	0.50836	T	0.198538959026337	0.20335	T	0.387161	0.09535	T	0.11841356	0.27899	0.11288319	0.27239	0.11841356	0.27899	0.11288319	0.27238	-10.825	0.78689	D	.	.	0.250	0.48438	B	.	.	1.522310	0.19545	14.32	0.78659287163530311	0.12396	0.08204	0.14162	N	AEFDBHCI	0.050316	0.08782	N	-1.04095739907982	0.07766	0.3618773	-1.08997966482299	0.07897	0.3859851	1.64633466257169E-4	0.05721	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.79	-2.42	0.06164	0.134000	0.15755	0.066000	0.14196	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4652:0.0:0.403:0.1318	5.503	0.16129	276	0.89131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	811.33	72	chr17	41571970	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.743;DP=924;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.254;SOR=1.13	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr17	41582509	41582509	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon8:c.C1345T:p.R449C	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0292656441112	7.7e-05	.	3.692e-05	0.0003	0	0	0	0	0	0	3.23e-05	5	154602	rs139800658	2.47e-05	3.078e-05	3.211e-05	1.713e-05	6.228e-05	1.794e-05	1.588e-05	2.419e-05	1.521e-05	3.087e-05	2.649e-05	0	2.692e-05	0	0	2.296e-05	3.398e-05	6.228e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.059	0.37536	T	0.06	0.45744	T	0.444	0.35956	B	0.032	0.22131	B	0.024983	0.26166	N	0.275088	0.999921	0.51308	D	1.67	0.42885	L	-1.71	0.83157	D	-3.02	0.62630	D	0.598	0.61680	-0.4198	0.71399	T	0.365	0.72590	T	10	0.5287224	0.63060	D	0.029266	0.51808	D	0.560	0.81946	.	.	0.891549390675	0.89048	0.8884042326321021	0.88809	0.676926707721	0.59805	0.518182635307	0.41370	T	0.444475	0.78787	T	0.239942	0.77657	D	0.106883	0.77366	D	0.364598542451859	0.27588	T	0.619338	0.23774	T	0.21157563	0.43487	0.22426479	0.47332	0.21157563	0.43487	0.22426479	0.47331	-8.344	0.63391	D	.	.	0.265	0.49988	B	.	.	4.946492	0.81679	27.6	0.99809318269060443	0.89353	0.73234	0.35825	D	AEFDGBCIJ	0.497709	0.53212	N	0.181368825494323	0.50303	3.221752	0.296024138404424	0.55307	3.693872	0.999999502680884	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.38	4.39	0.52211	1.695000	0.37381	9.718000	0.81356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.088:0.0:0.7445:0.1675	7.543	0.26917	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	812.33	36	chr17	41582509	.	G	A	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.644;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	1	0
chr17	41583592	41583592	T	C	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon5:c.A1012G:p.M338V	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0298631480392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	0.02958	T	0.391	0.15456	T	0.002	0.09854	B	0.01	0.14941	B	0.384530	0.13342	N	0.676680	1	0.08975	N	-0.475	0.02701	N	-2.14	0.86415	D	0.05	0.06369	N	0.184	0.19995	-0.7593	0.57444	T	0.178	0.52350	T	10	0.0622783	0.07939	T	0.029863	0.52294	D	0.156	0.40720	0.476	0.55342	0.528358622244	0.52483	0.6769595830879909	0.67634	0.486763637979	0.47525	0.280945837498	0.07624	T	0.234601	0.60167	T	-0.19446	0.21606	T	-0.517105	0.20587	T	0.0383360823788837	0.03391	T	0.146485	0.01205	T	0.12832592	0.30003	0.094231896	0.22294	0.12832592	0.30003	0.094231896	0.22294	-8.225	0.62593	D	0.06458036742818943	0.02067	0.053	0.00274	B	.	.	-0.335309	0.02465	0.285	0.53536855663550753	0.04959	0.08456	0.14383	N	AEFGBCIJ	0.087557	0.17753	N	-1.71714254368653	0.00782	0.03381495	-1.64048197813168	0.01426	0.06446826	0.999983277089938	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-3.97	0.03821	-2.707000	0.00891	-6.484000	0.01386	-1.464000	0.01079	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1188:0.2518:0.2096:0.4198	1.700	0.02698	276	0.89131	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1844.33	35	chr17	41583592	.	T	C	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.178;DP=989;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.429;SOR=0.347	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1382	18	0	1	0
chr17	41610936	41610936	A	C	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon5:c.T977G:p.V326G	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0627218372218	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.563e-06	1.285e-05	0	2.408e-05	0	0	.	.	2.408e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.985	0.61118	D	0.935	0.67021	D	0.244782	0.15634	N	0.513144	0.998933	0.21783	N	2.975	0.85398	M	-1.16	0.78082	T	-5.52	0.85994	D	0.316	0.35620	-0.2815	0.75500	T	0.592	0.85408	D	10	0.66793907	0.70539	D	0.062722	0.68742	D	0.338	0.66010	.	.	0.633825615615	0.63082	0.5634568028676141	0.56272	1.05760609486	0.76358	0.338925540447	0.16277	T	0.731018	0.92471	D	0.0570243	0.59239	T	-0.155865	0.58721	T	0.940511167049408	0.61292	D	0.724828	0.35599	T	0.6297301	0.74284	0.6919108	0.81869	0.6297301	0.74285	0.6919108	0.81870	-13.732	0.92153	D	0.25806083200470464	0.34870	0.476	0.63486	A	.;.	.;.	3.584092	0.50547	23.0	0.99592707021324278	0.73690	0.75324	0.36875	D	AEFBI	0.595803	0.59021	D	0.191486547744647	0.50790	3.265752	0.00277052897819345	0.39845	2.368659	0.00870435210985687	0.11725	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	3.27	0.36580	6.037000	0.70597	5.310000	0.48261	0.756000	0.94297	0.713000	0.28751	0.428000	0.24841	0.051000	0.15275	0.8546:0.0:0.0:0.1453	10.500	0.43989	307	0.87649	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1783.33	35	chr17	41610936	.	A	C	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=809;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.36;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	18	0	1	0
chr17	41715552	41715552	A	G	exonic	GAST	.	nonsynonymous SNV	GAST:NM_000805:exon2:c.A116G:p.N39S	.	428	1093	1	0	0	1	0.000457247	.	.	.	704139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.061	.	0.0015	0.00539137	0.0031	0.0005	0.0011	0.0277	0	0.0012	0.0033	0.0019	0.0030271	468	154602	rs140947135	0.0031	0.0031	0.0032	0.0030	0.0432	0.0030	0.0030	0.0415	0.0409	0.0005	0.0011	7.652e-05	0.0432	0.0001	0.0007	0.0021	0.0029	0.0018	0.0022	0.0022	0.0022	0.0022	0.0285	0.0020	0.0020	0.0247	0.0233	0.0005	0	0.0008	0	0.0285	0.0002	0	0.0020	0.0009	0.0033	0.495	0.07870	T	0.164	0.31026	T	0.003	0.11197	B	0.008	0.13708	B	0.390767	0.13259	N	0.701070	1	0.08975	N	0.935	0.23595	L	1.96	0.22270	T	-0.46	0.14978	N	0.037	0.01135	-0.9897	0.32677	T	0.016	0.06377	T	10	0.0038016737	0.00071	T	.	.	.	0.061	0.17616	.	.	0.448498829774	0.44469	0.04608210902180954	0.04552	0.503965992592	0.48697	0.327405065298	0.14542	T	0.171662	0.51986	T	-0.719372	0.00028	T	-0.78718	0.02243	T	0.00281082454325926	0.00029	T	0.490951	0.15096	T	0.033849392	0.03686	0.04842821	0.07190	0.033849392	0.03686	0.04842821	0.07190	-1.753	0.02372	T	.	.	0.072	0.04080	B	.	.	-0.064136	0.03861	0.835	0.77206884708180912	0.11780	0.00559	0.02549	N	AEFGBI	0.022538	0.01140	N	-0.977932649754679	0.09076	0.4280838	-1.05206041556417	0.08664	0.4271119	7.16958224871916E-6	0.01202	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.56	-0.386	0.11846	-0.025000	0.12361	-0.108000	0.11862	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.224000	0.22571	0.3789:0.0:0.6211:0.0	8.311	0.31231	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	923.33	43	chr17	41715552	.	A	G	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=789;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.388;SOR=0.921	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	41819332	41819332	G	A	exonic	FKBP10	.	nonsynonymous SNV	FKBP10:NM_021939:exon5:c.G850A:p.G284R	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	0	1490	30	2	0	34	0.0112807	.	.	.	610082	not_provided|not_specified|Osteogenesis_imperfecta_type_11|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.0667847351271	0.0002	0.000798722	0.0005	0	0.0004	0	0	0.0002	0.0011	0.0025	0.0004463	69	154602	rs372214186	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0.0005	0	5.038e-05	0	0.0026	0.0001	0.0005	0.0025	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0007	0.0003	0	0	0	0.0003	0.0019	0.0023	0.706	0.04094	T	0.815	0.03886	T	0.134	0.27266	B	0.041	0.23986	B	0.988842	0.08044	N	0.993762	1	0.24432	N	-0.835	0.01514	N	-1.96	0.85091	D	0.21	0.04776	N	0.202	0.22357	-0.8824	0.49569	T	0.270	0.64162	T	10	0.0053589344	0.00118	T	0.066785	0.69976	D	0.183	0.45592	0.516	0.61611	0.550842731861	0.54741	0.5796122781772097	0.57890	0.321619576993	0.34361	0.319252252579	0.13307	T	0.018246	0.14740	T	-0.336701	0.05620	T	-0.261661	0.48658	T	0.0166111615422761	0.00421	T	0.50065	0.15660	T	0.048808962	0.08566	0.09702783	0.23077	0.048808962	0.08565	0.09702783	0.23077	-0.977	0.00974	T	0.10505358080590027	0.08286	0.062	0.01215	B	.	.	1.482181	0.19077	14.08	0.95068555199797211	0.26106	0.27637	0.23333	N	AEFDBHCI	0.263984	0.38141	N	-0.991755550792229	0.08779	0.4129378	-0.93156157991318	0.11352	0.5777521	0.999987119437034	0.51787	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.714379	0.83352	0	.	.	5.55	1.15	0.19876	1.939000	0.39841	0.446000	0.18474	0.676000	0.76740	0.198000	0.24285	0.000000	0.08366	0.173000	0.21076	0.3045:0.0:0.6955:0.0	9.345	0.37265	549	0.72275	FKBP-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.011364	0.02632	768.33	33	chr17	41819332	.	G	A	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=678;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.481;SOR=0.544	GT:AD:DP:GQ:PL	0/1:29,26:55:99:782,0,737	18	0	1	0
chr17	41936508	41936508	C	G	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_001350319:exon4:c.C433G:p.L145V,TTC25:NM_031421:exon4:c.C433G:p.L145V	Ciliary dyskinesia, primary, 35, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	3577497	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	.	.	.	0.0002	0	0	0	0	0.0003	0.0034	6.206e-05	0.0001552	24	154602	rs375976105	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	4.472e-05	0.0002	0	5.62e-05	0.0017	0.0001	0.0002	0.0002	5.912e-05	5.907e-05	2.57e-05	9.406e-05	0.0001	3.077e-05	2.21e-05	4.766e-05	3.339e-05	0	0	6.56e-05	0	0	0	0	0.0001	0.0005	0	.	.	.	0.215	0.26306	T	0.927	0.51527	P	0.685	0.53610	P	0.000269	0.46590	N	0.185135	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.31925	-0.9450	0.41814	T	0.099	0.37009	T	8	0.12510595	0.23770	T	.	.	.	0.073	0.21317	0.322	0.30226	0.0611884634855	0.05136	0.3578584669814523	0.35699	.	.	0.451012700796	0.32082	T	0.032317	0.22435	T	-0.209304	0.19477	T	-0.23949	0.50849	T	0.730064392089844	0.42213	D	0.761924	0.38711	T	0.08638219	0.20077	0.18654157	0.41833	0.08638219	0.20077	0.18654157	0.41832	-7.546	0.57933	D	.	.	0.089	0.11989	B	.	.	3.431066	0.47690	22.5	0.99296263445403721	0.58469	0.86312	0.45567	D	AEFDBI	.	.	.	-0.0321930653091588	0.40401	2.398633	0.00322577829087911	0.39865	2.370211	0.660294581803633	0.22263	0.106106	0.02776	0	0.060609	0.00678	0	0.125526	0.03468	0	0.058706	0.01089	0	0.569583	0.40332	6.04	1.6	0.22686	0.607000	0.23906	1.804000	0.28906	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.993000	0.69303	0.1208:0.3987:0.3517:0.1288	4.268	0.10220	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	401.33	36	chr17	41936508	.	C	G	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=651;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.842;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	18	0	1	0
chr17	41968672	41968672	G	A	exonic	CNP	.	nonsynonymous SNV	CNP:NM_001330216:exon2:c.G548A:p.R183H,CNP:NM_033133:exon2:c.G608A:p.R203H	.	.	.	.	.	.	.	.	.	.	.	3650504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0199217226919	8.2e-05	.	0.0002	0	0.0013	0	0	7.699e-05	0	0	0.0001617	25	154602	rs372029848	5.473e-05	5.472e-05	4.628e-05	6.326e-05	0.0010	4.477e-05	4.147e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0003	1.439e-05	0.0001	9.276e-05	9.201e-05	9.193e-05	8.994e-05	9.417e-05	0.0005	5.529e-05	4.365e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	7.35e-05	0	0.0004	0.026	0.49117	D	0.038	0.52060	D	0.115	0.26429	B	0.011	0.15521	B	0.291091	0.14767	N	0.569256	1	0.08975	N	1.93	0.51437	L	0.48	0.55945	T	-2.02	0.46503	N	0.071	0.07262	-0.9330	0.43695	T	0.129	0.43828	T	10	0.038363725	0.02250	T	0.019922	0.42402	T	0.095	0.27398	.	.	0.606882596843	0.60372	0.6889748381992963	0.68837	0.376718791513	0.39108	0.243553519249	0.03119	T	0.402772	0.75970	T	-0.520209	0.00439	T	-0.579213	0.14615	T	0.0226626757831092	0.00984	T	0.853715	0.53946	D	0.10005582	0.23621	0.10576144	0.25429	0.10005582	0.23621	0.10576144	0.25429	-4.666	0.32990	T	.	.	0.092	0.13597	B	.;.	.;.	2.237825	0.28571	17.84	0.98124545999179025	0.38465	0.21185	0.21311	N	AEFDGBCI	.	.	.	-0.796906827420528	0.13390	0.6593017	-0.88018640681683	0.12564	0.647005	0.999997089402647	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.46	-0.0311	0.13238	0.599000	0.23788	2.722000	0.34320	0.676000	0.76740	0.002000	0.15269	0.950000	0.28999	0.044000	0.14658	0.2947:0.0:0.7053:0.0	10.611	0.44613	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	782.33	33	chr17	41968672	.	G	A	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.01;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1333	18	0	1	0
chr17	42040181	42040181	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G1552A:p.A518T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262611863	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999994	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18257254	0.33543	T	.	.	.	.	.	.	.	.	.	0.33932591832900727	0.33845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570043	0.20293	T	0.05215316	0.09685	0.25041515	0.50632	0.05215316	0.09685	0.25041515	0.50631	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.241371	0.28623	17.86	0.93650470231375504	0.23534	0.32445	0.24587	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.605880491523443	0.21764	0.11394	0.02926	0	0.097471	0.02872	0	0.099915	0.03048	0	0.166187	0.04126	0	0.221137	0.31374	4.98	2.95	0.33285	1.288000	0.32901	1.030000	0.23473	0.599000	0.40250	0.945000	0.32849	0.347000	0.24452	0.771000	0.36558	0.4361:0.4792:0.0:0.0847	6.816	0.23015	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.98	.	chr17	42040181	.	C	T	35.98	.	AC=2;AF=0.083;AN=24;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.2841;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.99;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	11	1	0	7
chr17	42110907	42110907	G	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon5:c.C377A:p.S126Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0398314895504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	1.368e-06	0	1.385e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.915	0.65091	D	0.000297	0.46274	D	0.139082	0.943869	0.37426	D	3.41	0.91792	M	1.24	0.38073	T	-4.87	0.82764	D	0.601	0.61933	-0.1426	0.79101	T	0.299	0.67036	T	10	0.69785416	0.72256	D	0.039831	0.59031	D	0.308	0.62947	0.566	0.68768	0.756655250323	0.75444	0.8938966995595169	0.89360	0.982308939305	0.73784	0.521658062935	0.41860	T	0.52707	0.83565	D	0.0378351	0.56760	T	-0.183429	0.56203	T	0.996961176395416	0.90465	D	0.921708	0.71584	D	0.72699654	0.79554	0.66108626	0.80141	0.72699654	0.79556	0.66108626	0.80142	-13.422	0.91026	D	.	.	0.860	0.82580	P	.;.;.;.	.;.;.;.	4.627527	0.73545	26.0	0.99387729232571065	0.62202	0.95544	0.65144	D	AEFDGBC	0.939158	0.93936	D	0.837041422194311	0.88357	9.548511	0.741149235244738	0.85495	8.597545	0.999999999984399	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	9.678000	0.97908	9.993000	0.82996	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	16.412	0.83561	321	0.86949	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2204.33	34	chr17	42110907	.	G	T	2204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=831;ExcessHet=0;FS=1.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.361;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1319	18	0	1	0
chr17	42122855	42122856	AG	-	exonic	HSPB9	.	frameshift deletion	HSPB9:NM_033194:exon1:c.5_6del:p.R3Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.467e-05	0	8.721e-05	0	0	4.678e-05	0	0	2.59e-05	4	154602	rs782406082	1.789e-05	1.779e-05	2.05e-05	1.525e-05	0.0001	1.245e-05	1.058e-05	4.374e-05	2.777e-05	0	0.0001	0	0	0	0	1.627e-05	1.668e-05	2.327e-05	3.284e-05	3.283e-05	2.568e-05	4.033e-05	6.539e-05	1.26e-05	7.98e-06	1.171e-05	6.25e-06	2.411e-05	0	6.539e-05	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025706	0.080808	0.014946	0.005848	0.000000	0.043103	0.024390	0.007576	0.02632	1274.29	36	chr17	42122854	.	CAG	C	1274.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=737;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.231;SOR=1.049	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1253	18	0	1	0
chr17	42122855	42122855	A	0	exonic	HSPB9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6305.03	101	chr17	42122855	.	A	*	6305.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=1126;ExcessHet=2.9153;FS=4.378;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.082;SOR=0.977	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1253	18	0	1	0
chr17	42301445	42301445	A	T	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon8:c.A1070T:p.N357I,STAT5A:NM_001288718:exon9:c.A1160T:p.N387I,STAT5A:NM_001288720:exon9:c.A1160T:p.N387I,STAT5A:NM_003152:exon10:c.A1160T:p.N387I	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.183484659028	.	.	5.797e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs752308916	2.599e-05	2.599e-05	1.225e-05	3.988e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	0	0.0004	2.632e-05	2.627e-05	0	5.388e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.031	0.45039	D	0.149	0.32568	T	0.047	0.21998	B	0.121	0.32300	B	0.000003	0.62929	D	0.099589	0.999974	0.53665	D	1.5	0.37844	L	-2.46	0.88924	D	-2.11	0.50992	N	0.411	0.50868	-0.0370	0.81483	T	0.606	0.86030	D	10	0.16438141	0.30755	T	0.183485	0.85688	D	0.340	0.66202	0.54	0.65161	0.707996449842	0.70544	0.3057129301723448	0.30484	1.02942043651	0.75374	0.673897922039	0.63393	T	0.673146	0.90321	D	-0.154515	0.27606	T	-0.14357	0.59808	T	0.196442797321295	0.20217	T	0.946205	0.83186	D	0.23931928	0.46820	0.15444723	0.36247	0.23931928	0.46820	0.15444723	0.36246	-4.712	0.33549	T	.	.	0.183	0.40858	B	.;.;.;.	.;.;.;.	2.709962	0.35416	19.89	0.97805700765310644	0.36091	0.89424	0.49880	D	AEFDBCI	0.289650	0.40124	N	-0.277510919852341	0.30019	1.669986	-0.190966531916537	0.31868	1.807535	0.999662261549299	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.6	2.39	0.28492	1.978000	0.40221	1.885000	0.29478	0.591000	0.32079	1.000000	0.71638	0.999000	0.35428	0.914000	0.44937	0.6685:0.0:0.3315:0.0	6.192	0.19744	364	0.84707	STAT transcription factor, DNA-binding;STAT transcription factor, DNA-binding;.;STAT transcription factor, DNA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2965.33	36	chr17	42301445	.	A	T	2965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.217;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	42306358	42306358	G	A	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon12:c.G1501A:p.V501M,STAT5A:NM_001288720:exon12:c.G1498A:p.V500M,STAT5A:NM_001288718:exon13:c.G1591A:p.V531M,STAT5A:NM_003152:exon14:c.G1591A:p.V531M	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0482640152987	.	.	1.671e-05	9.792e-05	0	0	0	1.518e-05	0	0	3.84e-05	1	26028	rs745410561	1.026e-05	1.026e-05	1.089e-05	9.626e-06	8.961e-05	6.16e-06	4.89e-06	2.375e-05	1.258e-05	8.961e-05	2.236e-05	0	0	0	0	8.094e-06	1.656e-05	1.159e-05	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.113	0.35726	T	0.232	0.40909	T	0.731	0.42679	P	0.437	0.45591	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	-2.26	0.87989	D	-0.02	0.07299	N	0.498	0.55019	0.294	0.87465	D	0.618	0.86506	D	10	0.4236379	0.57029	T	0.048264	0.63296	D	0.500	0.78350	0.511	0.60846	0.762383276145	0.76021	0.4028810326116549	0.40204	1.1745074142	0.79847	0.636895358562	0.58123	T	0.387858	0.74867	T	-0.024364	0.48230	T	-0.0912458	0.64068	T	0.160085633397102	0.17878	T	0.960404	0.91204	D	0.13207303	0.30765	0.16676986	0.38511	0.13207303	0.30765	0.16676986	0.38510	-8.672	0.65563	D	.	.	0.134	0.43585	B	.;.;.;.;.	.;.;.;.;.	3.600455	0.50854	23.0	0.99865514263474553	0.94366	0.97205	0.73310	D	AEFDGBCI	0.550291	0.56282	D	0.220021174617749	0.52170	3.392927	0.271767916352117	0.53896	3.556601	0.999992567477935	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.64	3.59	0.40253	2.881000	0.48236	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.2687:0.7313:0.0	14.009	0.64000	368	0.84463	STAT transcription factor, DNA-binding;STAT transcription factor, DNA-binding;.;.;STAT transcription factor, DNA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2885.33	37	chr17	42306358	.	G	A	2885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=864;ExcessHet=0;FS=3.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.19;MQRankSum=-1.96;QD=12.23;ReadPosRankSum=-0.189;SOR=0.497	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	18	0	1	0
chr17	42544215	42544215	C	T	exonic	NAGLU	.	nonsynonymous SNV	NAGLU:NM_000263:exon6:c.C2209T:p.R737C	Mucopolysaccharidosis type IIIB (Sanfilippo B), Autosomal recessive	8	17	207	1190	100	2687	0.987028	.	.	.	1462319	Charcot-Marie-Tooth_disease_axonal_type_2V|Mucopolysaccharidosis,_MPS-III-B	MONDO:MONDO:0014665,MedGen:C5569050,OMIM:616491,Orphanet:447964|MONDO:MONDO:0009656,MedGen:C0086648,OMIM:252920,Orphanet:79270	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.296886188119	.	.	8.309e-06	9.792e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs86312	2.742e-06	4.788e-06	4.093e-06	1.378e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	2.987e-05	4.472e-05	0	0	0	0	8.993e-07	0	0	6.574e-06	6.562e-06	1.286e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.01	0.65728	D	0.997	0.70673	D	0.549	0.49194	P	0.597366	0.10991	N	0.830326	0.333925	0.33098	P	1.87	0.49600	L	-5.44	0.99100	D	-1.36	0.33798	N	0.305	0.34444	0.924	0.96017	D	0.901	0.96731	D	9	0.6490395	0.69495	D	0.296886	0.90752	D	0.391	0.70684	0.427	0.47350	0.953663521557	0.95317	0.31525420517128233	0.31438	1.01211776729	0.74815	0.238694518805	0.02674	T	0.300227	0.67272	T	-0.0124821	0.49918	T	-0.0735593	0.65372	T	0.344124466180801	0.26787	T	0.784922	0.42251	T	0.13808258	0.31948	0.065592915	0.13315	0.13808258	0.31948	0.065592915	0.13314	-7.216	0.55596	T	.	.	0.165	0.36315	B	.	.	3.531579	0.49552	22.8	0.99872143743057429	0.94989	0.71982	0.35251	D	AEFDBCI	.	.	.	0.169955149449898	0.49759	3.172835	0.163957695393902	0.47887	3.012209	0.999802051256058	0.43304	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.01	4.01	0.45821	0.635000	0.24318	1.526000	0.27126	-0.176000	0.10722	0.342000	0.25692	0.541000	0.25415	0.111000	0.18785	0.2135:0.7864:0.0:0.0	9.337	0.37220	196	0.92420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	37861.9	70	chr17	42544215	.	C	T	37861.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.287;DP=1501;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=26.89;ReadPosRankSum=-2.453;SOR=0.848	GT:AD:DP:GQ:PL	0/0:0,0:72:99:1975,1975,1975	18	0	1	0
chr17	42577481	42577481	C	G	exonic	PSMC3IP	.	nonsynonymous SNV	PSMC3IP:NM_013290:exon2:c.G115C:p.E39Q,PSMC3IP:NM_016556:exon2:c.G115C:p.E39Q	Ovarian dysgenesis 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00412300800457	.	0.000199681	6.61e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs538091060	2.394e-05	2.394e-05	8.167e-06	3.988e-05	0.0004	1.738e-05	1.539e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	0	0.0004	2.626e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.141	0.25560	T	0.213	0.26467	T	0.362	0.40250	B	0.281	0.40336	B	0.023221	0.26485	N	0.433090	0.984286	0.81001	D	1.575	0.39704	L	0.86	0.47815	T	-1.22	0.30964	N	0.163	0.19728	-1.0687	0.09701	T	0.078	0.31163	T	10	0.065885544	0.08955	T	0.004123	0.09869	T	0.085	0.24743	0.41	0.44559	0.315314060047	0.31143	0.22863561024810639	0.22778	0.233177444667	0.25854	0.473005205393	0.35094	T	0.111225	0.42654	T	-0.412117	0.01924	T	-0.519236	0.20372	T	0.422253549098969	0.29773	T	0.863614	0.56831	D	0.2648379	0.49552	0.1898863	0.42360	0.2648379	0.49552	0.1898863	0.42359	-5.972	0.46045	T	.	.	0.138	0.30076	B	.;.	.;.	3.367965	0.46524	22.3	0.98756677319269737	0.45739	0.74611	0.36503	D	AEFDGBHCI	0.389716	0.46883	N	0.115851581392112	0.47202	2.949253	0.278716957906627	0.54299	3.59526	0.999999999916549	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.04	5.04	0.67293	6.015000	0.70444	3.977000	0.40873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1495:0.8505:0.0:0.0	14.239	0.65489	206	0.91974	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1024.33	34	chr17	42577481	.	C	G	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=694;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.745;SOR=0.852	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	42610492	42610492	C	T	exonic	TUBG1	.	nonsynonymous SNV	TUBG1:NM_001070:exon3:c.C232T:p.L78F	Cortical dysplasia, complex, with other brain malformations 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.037568502302	.	.	8.365e-06	0	0	0	0	0	0	6.065e-05	3.84e-05	1	26028	rs749432201	6.843e-07	6.841e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.032	0.53426	D	0.808	0.45299	P	0.237	0.38508	B	0.000482	0.43931	U	0.097095	1	0.81001	D	2.56	0.74772	M	-0.42	0.69536	T	-1.54	0.37375	N	0.495	0.52829	-0.3054	0.74834	T	0.323	0.69151	T	10	0.36737794	0.53208	T	0.037569	0.57695	D	0.361	0.68141	0.584	0.71118	0.591792501908	0.58856	0.9072224063103507	0.90695	1.92046280059	0.92997	0.767815828323	0.77097	T	0.452831	0.79301	T	0.0284256	0.55514	T	-0.196945	0.54936	T	0.556472301483154	0.34721	D	0.90081	0.65538	D	0.41765204	0.61935	0.3236232	0.58292	0.41765204	0.61936	0.3236232	0.58291	-7.948	0.60715	D	0.4444902347916471	0.52941	0.402	0.64201	A	.;.	.;.	4.662491	0.74439	26.2	0.99802418075158128	0.88728	0.87677	0.47297	D	AEFGBHCI	0.575169	0.57766	D	0.530394806728249	0.68895	5.280742	0.588104777748995	0.74085	6.077541	0.999999999995999	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.84	5.84	0.93373	3.343000	0.51884	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.203	0.98271	327	0.86637	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4099.33	37	chr17	42610492	.	C	T	4099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=1126;ExcessHet=0;FS=6.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.53;MQRankSum=0.315;QD=11.81;ReadPosRankSum=0.162;SOR=1.04	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr17	42692625	42692625	A	G	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon17:c.A2657G:p.Q886R	Lethal congenital contracture syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4121188	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.0239556218458	.	.	4.12e-05	0	0	0	0	5.997e-05	0	6.058e-05	3.23e-05	5	154602	rs766349836	2.531e-05	2.531e-05	2.314e-05	2.75e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	3.272e-05	0	0	3.826e-05	2.519e-05	0	0.0003	2.248e-05	0	9.275e-05	1.314e-05	1.313e-05	0	2.688e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.021	0.49117	D	0.126	0.35205	T	0.001	0.07471	B	0.009	0.14300	B	0.004516	0.33669	N	0.204926	0.925	0.27211	N	0.205	0.09354	N	-1.08	0.77078	T	-1.77	0.41809	N	0.418	0.45803	-0.8482	0.52093	T	0.230	0.59546	T	10	0.2436702	0.41585	T	0.023956	0.46940	T	0.161	0.41658	0.529	0.63560	0.582324375139	0.57904	0.4386911342328004	0.43786	0.517804415941	0.49640	0.665964961052	0.62262	T	0.327361	0.69788	T	-0.214147	0.18799	T	-0.363856	0.37605	T	0.364218145608902	0.27573	T	0.861714	0.55578	D	0.13260013	0.30871	0.1869858	0.41904	0.13260013	0.30871	0.1869858	0.41903	-7.521	0.57758	D	0.22120860197495976	0.29831	0.242	0.47600	B	.	.	2.917326	0.38715	20.8	0.99339458335435371	0.60131	0.92929	0.56895	D	AEFGBI	0.448310	0.50359	N	-0.303479903823834	0.29016	1.605367	-0.113236137896676	0.34855	2.009748	0.725700852286838	0.22985	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	3.18	0.35615	3.019000	0.49318	7.613000	0.61989	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.5681:0.0:0.0:0.4319	10.006	0.41129	261	0.89765	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	36	chr17	42692625	.	A	G	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.493;DP=741;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.204;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	18	0	1	0
chr17	42692697	42692697	A	T	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon17:c.A2729T:p.E910V	Lethal congenital contracture syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0384142293885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.755e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	0.003486	0.34874	N	0.249852	0.707335	0.30047	N	2.095	0.58118	M	-1.36	0.80125	T	-4.02	0.74269	D	0.435	0.47395	-0.5894	0.65245	T	0.346	0.71115	T	10	0.5475168	0.64068	D	0.038414	0.58210	D	0.436	0.74093	0.783	0.90693	0.728235260138	0.72582	0.6045704465943722	0.60388	0.461870453635	0.45726	0.505912899971	0.39652	T	0.625165	0.88308	D	0.0626542	0.59946	T	-0.147778	0.59441	T	0.983426094055176	0.75096	D	0.591241	0.21771	T	0.16939197	0.37453	0.16096237	0.37465	0.16939197	0.37453	0.16096237	0.37464	-8.838	0.66648	D	0.2966520157870889	0.39371	0.353	0.56799	A	.	.	3.582840	0.50517	23.0	0.9877987095439682	0.46112	0.97805	0.77262	D	AEFGBI	0.610313	0.59919	D	-0.136219916492213	0.35824	2.062592	0.0282173858830617	0.41029	2.458291	0.99567498807838	0.34259	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	4.6	0.56512	4.399000	0.59463	8.042000	0.76319	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.7311:0.1375:0.0:0.1313	8.331	0.31345	261	0.89765	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	36	chr17	42692697	.	A	T	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=678;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.854;SOR=1.489	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	18	0	1	0
chr17	42795506	42795506	G	A	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon14:c.G1999A:p.A667T,WNK4:NM_032387:exon15:c.G3007A:p.A1003T	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0251340641637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.061	0.45530	T	0.483	0.36807	P	0.122	0.32387	B	0.048770	0.23221	N	0.309243	0.981831	0.25009	N	0.805	0.20218	L	-0.51	0.70597	T	-1.25	0.31576	N	0.173	0.18512	-0.8503	0.51948	T	0.207	0.56622	T	10	0.17086548	0.31774	T	0.025134	0.48119	D	0.097	0.27909	0.104	0.01698	0.660021366681	0.65717	0.20941212748353377	0.20857	0.583224120598	0.54045	0.461492359638	0.33515	T	0.221623	0.58524	T	-0.0455543	0.45119	T	-0.303212	0.44385	T	0.843604326248169	0.49624	D	0.790621	0.43132	T	0.2618027	0.49239	0.34679434	0.60343	0.2618027	0.49239	0.34679434	0.60342	-3.767	0.20312	T	.	.	0.128	0.27313	B	.	.	3.941681	0.57682	23.9	0.98732130717574651	0.45363	0.47128	0.27914	N	AEFBCI	0.153448	0.27831	N	-0.208748307281576	0.32774	1.85213	-0.114767224216426	0.34794	2.005517	0.101843781558412	0.16393	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	5.74	4.69	0.58546	2.644000	0.46279	7.179000	0.57745	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.757:0.243	13.102	0.58643	240	0.90628	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2806.33	266	chr17	42795506	.	G	A	2806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=915;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.019;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	18	0	1	0
chr17	42844870	42844870	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G244A:p.A82T,AOC2:NM_009590:exon1:c.G244A:p.A82T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00655830723686	0.0018	0.000399361	0.0010	0.0004	0.0005	0	0	0.0017	0	0.0003	0.0010026	155	154602	rs139603521	0.0020	0.0020	0.0021	0.0019	0.0025	0.0020	0.0019	0.0024	0.0024	0.0003	0.0003	3.841e-05	0	3.761e-05	0	0.0025	0.0016	0.0003	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0018	0.0017	0.0005	0	0.0002	0	0	0	0	0.0020	0.0009	0.0004	0.011	0.56456	D	0.087	0.40909	T	0.981	0.59675	D	0.824	0.59271	P	0.006259	0.32164	N	0.344745	0.989278	0.40921	D	2.155	0.60227	M	1.45	0.32482	T	-1.64	0.39314	N	0.218	0.31365	-1.0932	0.05020	T	0.110	0.39699	T	10	0.013290256	0.00282	T	0.006558	0.17301	T	0.098	0.28162	.	.	0.462809833587	0.45907	0.345807186843991	0.34494	0.0512075118454	0.05634	0.418348014355	0.27610	T	0.141816	0.47708	T	-0.37543	0.03328	T	-0.325286	0.41992	T	0.0612307800964604	0.07361	T	0.940639	0.78384	D	0.3065857	0.53489	0.34650066	0.60317	0.3065857	0.53489	0.34650066	0.60317	-8.748	0.66172	D	.	.	0.108	0.26074	B	.;.	.;.	3.466656	0.48348	22.6	0.99905248291443438	0.97576	0.67187	0.33342	D	AEFDGBHCI	0.220830	0.34553	N	0.286382581808364	0.55457	3.709818	0.266739338718964	0.53608	3.528884	0.996816991095992	0.35031	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	1.492000	0.35203	5.493000	0.48753	0.590000	0.31872	0.072000	0.22128	1.000000	0.68203	0.982000	0.59238	0.0796:0.0:0.9204:0.0	11.885	0.51876	262	0.89730	Copper amine oxidase, N2-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1490.33	42	chr17	42844870	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=770;ExcessHet=0;FS=3.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.975;SOR=0.794	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr17	42851611	42851611	C	T	exonic	AOC3	.	nonsynonymous SNV	AOC3:NM_001277731:exon1:c.C268T:p.R90W,AOC3:NM_003734:exon1:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0106155544933	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575260524	1.574e-05	1.573e-05	1.498e-05	1.651e-05	0.0001	1.048e-05	8.76e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	1.439e-05	4.972e-05	0	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0002	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.062	0.36912	T	0.018	0.70582	D	0.041	0.21357	B	0.029	0.21540	B	0.299870	0.14617	N	0.672756	0.912889	0.27468	N	1.5	0.37844	L	1.48	0.31731	T	-3.27	0.65512	D	0.224	0.25130	-1.0510	0.14119	T	0.060	0.24981	T	10	0.088994235	0.15375	T	0.010616	0.27366	T	0.104	0.29647	0.548	0.66296	0.453962894745	0.45019	0.49793858630911847	0.49714	0.938582361271	0.72127	0.371343672276	0.21025	T	0.184043	0.53657	T	-0.300998	0.08567	T	-0.670139	0.07600	T	0.495732694864273	0.32474	T	0.232077	0.05569	T	0.19602989	0.41414	0.12632307	0.30426	0.19602989	0.41414	0.12632307	0.30425	-8.486	0.64337	D	.	.	0.102	0.17995	B	.;.	.;.	2.990514	0.39923	21.1	0.99388495574520941	0.62202	0.30521	0.24103	N	AEFGBI	0.440688	0.49915	N	-0.419239782128084	0.24795	1.341352	-0.371786628969364	0.25842	1.423643	0.973074518417112	0.29424	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.05	4.02	0.45968	1.406000	0.34254	1.730000	0.28322	0.549000	0.26987	0.001000	0.13787	0.005000	0.19230	0.228000	0.22680	0.2338:0.5118:0.2544:0.0	7.446	0.26384	260	0.89800	Copper amine oxidase, N2-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2060.33	33	chr17	42851611	.	C	T	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=869;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.63;MQRankSum=0.226;QD=10.05;ReadPosRankSum=0.24;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1361	18	0	1	0
chr17	42856444	42856444	A	G	exonic	AOC3	.	nonsynonymous SNV	AOC3:NM_001277732:exon4:c.A557G:p.Q186R,AOC3:NM_003734:exon4:c.A2186G:p.Q729R	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00615020415911	.	0.000399361	0.0002	0	0	0	0	1.618e-05	0	0.0014	7.68e-05	2	26028	rs563477961	0.0001	0.0001	6.398e-05	0.0002	0.0018	0.0001	9.567e-05	0.0016	0.0015	0	0	0	0	0	0.0005	8.993e-07	0.0002	0.0018	7.224e-05	7.218e-05	2.57e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.138	0.25873	T	0.112	0.40909	T	0.796	0.44790	P	0.229	0.38155	B	0.005187	0.33015	N	0.311105	0.755288	0.33975	D	2.51	0.73131	M	3.86	0.03624	T	-2.45	0.53577	N	0.231	0.25989	-0.9150	0.46220	T	0.006	0.02131	T	10	0.016300708	0.00343	T	0.00615	0.16111	T	0.087	0.25287	0.506	0.60078	0.355658859761	0.35178	0.45257617909043035	0.45175	2.02385248227	0.94028	0.397215515375	0.24681	T	0.136236	0.46849	T	-0.514425	0.00474	T	-0.54709	0.17605	T	0.128028553309436	0.15198	T	0.675932	0.63286	T	0.21387517	0.43778	0.20117998	0.44086	0.21387517	0.43778	0.20117998	0.44085	-4.575	0.31856	T	.	.	0.083	0.09045	B	.;.;.	.;.;.	3.198467	0.43488	21.7	0.99540454545428525	0.70461	0.94661	0.61898	D	AEFDGBI	0.338412	0.43589	N	0.000868540980585766	0.41895	2.514201	0.121541734632932	0.45653	2.824645	0.99779972851451	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.91	3.79	0.42757	1.129000	0.30994	6.686000	0.56326	0.751000	0.87719	0.973000	0.34540	1.000000	0.68203	0.878000	0.41950	0.9241:0.0:0.0759:0.0	10.902	0.46265	262	0.89730	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001058	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	2420.33	34	chr17	42856444	.	A	G	2420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.757;DP=836;ExcessHet=0;FS=1.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.38;MQRankSum=0.738;QD=11.86;ReadPosRankSum=-1.286;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	18	0	1	0
chr17	42955903	42955903	G	A	exonic	AARSD1;PTGES3L-AARSD1	.	nonsynonymous SNV	AARSD1:NM_001261434:exon7:c.C733T:p.R245W,PTGES3L-AARSD1:NM_001136042:exon12:c.C1255T:p.R419W,PTGES3L-AARSD1:NM_025267:exon12:c.C1072T:p.R358W	.	431	1084	4	3	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0375016706228	0.0002	0.00179712	0.0007	0	0.0003	0.0001	0	0.0002	0.0011	0.0044	0.0006921	107	154602	rs201941576	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0002	0.0002	0.0001	0	0.0007	0.0001	0.0003	0.0045	0.0002	0.0003	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.41e-05	0	6.555e-05	0	0.0004	0	0	7.352e-05	0.0005	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	.	.	.	2.765	0.80766	M	0.61	0.53516	T	-7.9	0.96191	D	0.93	0.93487	-0.0788	0.80580	T	0.359	0.72085	T	9	0.013238043	0.00327	T	0.037502	0.57658	D	0.620	0.85249	.	.	0.609617904835	0.60648	0.8886518496027869	0.88834	0.560045054504	0.52543	0.676551043987	0.63775	T	0.456132	0.81514	T	-0.0255131	0.48064	T	0.191254	0.82641	D	0.240474779046427	0.22441	T	0.981802	0.93846	D	0.876221	0.89359	0.7562106	0.85593	0.876221	0.89360	0.7562106	0.85594	-12.969	0.89235	D	.	.	0.811	0.80930	P	.;.;.;.;.;.	.;.;.;.;.;.	5.813787	0.93668	33	0.99910077620948867	0.97949	0.96369	0.68801	D	AEFBI	0.716616	0.66840	D	0.787719075141611	0.85331	8.544284	0.728956460164553	0.84577	8.331002	0.0189072500312813	0.13108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.446000	0.44566	9.652000	0.81173	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7381:0.2619	13.473	0.60743	196	0.92420	Alanyl-tRNA synthetase, class IIc, core domain;.;.;.;Alanyl-tRNA synthetase, class IIc, core domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1767.33	42	chr17	42955903	.	G	A	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.998;DP=773;ExcessHet=0;FS=3.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.803;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	18	0	1	0
chr17	42991144	42991144	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon5:c.A1270G:p.M424V,RUNDC1:NM_001321381:exon6:c.A1276G:p.M426V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00463253059839	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs541380741	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.726	0.05238	T	0.0	0.02946	B	0.0	0.01387	B	0.420720	0.04646	N	1.280360	1	0.08975	N	0.55	0.14455	N	2.32	0.16640	T	-0.33	0.12472	N	0.011	0.00110	-0.9745	0.36235	T	0.024	0.10284	T	10	0.032116294	0.01357	T	0.004633	0.11472	T	0.001	0.00016	0.275	0.22687	0.119812018005	0.11559	0.20242667385477942	0.20159	0.418046650272	0.42406	0.214256674051	0.01005	T	0.009095	0.08305	T	-0.40527	0.02137	T	-0.819919	0.01454	T	0.0465811875712205	0.04890	T	0.210379	0.02537	T	0.027100604	0.01855	0.044786356	0.05879	0.027100604	0.01854	0.044786356	0.05879	-3.421	0.15340	T	.	.	0.056	0.00452	B	.	.	-0.789861	0.01127	0.052	0.35226220786045392	0.02199	0.07230	0.13254	N	AEFDGBI	.	.	.	-1.31079948493196	0.03551	0.1588111	-1.31549487951312	0.04229	0.1990599	0.999995182769324	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-3.14	0.04928	-0.997000	0.03816	-0.086000	0.12117	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.3014:0.4885:0.2101:0.0	9.018	0.35341	287	0.88635	RUN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	33	chr17	42991144	.	A	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=748;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.934;SOR=0.884	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1437	18	0	1	0
chr17	43013615	43013615	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G515A:p.R172Q,IFI35:NM_005533:exon5:c.G521A:p.R174Q	.	428	1056	34	4	0	42	0.0194986	.	.	.	704159	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0078	0.00359425	0.0082	0.0014	0.0051	0.0007	0.0021	0.0129	0.0132	0.0021	0.0081047	1253	154602	rs150695787	0.0079	0.0079	0.0079	0.0079	0.0241	0.0078	0.0077	0.0208	0.0196	0.0016	0.0063	0.0530	0.0007	0.0024	0.0241	0.0078	0.0106	0.0025	0.0066	0.0066	0.0069	0.0064	0.0091	0.0063	0.0062	0.0079	0.0077	0.0013	0	0.0091	0.0510	0.0004	0.0026	0.0306	0.0085	0.0066	0.0023	0.106	0.29688	T	0.164	0.31125	T	1.0	0.90584	D	0.984	0.76113	D	0.000008	0.62929	D	0.070465	0.999871	0.19925	N	2.79	0.81396	M	0.86	0.46777	T	-0.9	0.24244	N	0.498	0.53093	-0.7704	0.56836	T	0.223	0.58639	T	10	0.006929964	0.00157	T	.	.	.	0.200	0.48430	.	.	0.484913652648	0.48122	0.5970993023511315	0.59640	0.42604554479	0.42993	0.395032167435	0.24376	T	0.092352	0.38987	T	-0.480353	0.00736	T	-0.452383	0.27434	T	0.0261459651015416	0.01425	T	0.870213	0.59878	D	0.5297764	0.68818	0.3845513	0.63393	0.5297764	0.68819	0.3845513	0.63393	-2.963	0.12106	T	.	.	0.180	0.41663	B	.;.	.;.	4.535300	0.71241	25.6	0.99907404038604708	0.97801	0.82571	0.41780	D	AEFDGBCI	0.396265	0.47280	N	0.393977632713726	0.61094	4.306173	0.261546070718918	0.53307	3.500443	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	4.244000	0.58522	11.797000	0.96542	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.247000	0.23184	0.0:0.0:1.0:0.0	14.994	0.71068	319	0.87030	.;.	CTD-3014M21.1|TMEM106A|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|RND2|CTD-3014M21.1|CTD-3014M21.1|COASY|NBR2|ARL4D|CTD-3014M21.1	Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood	COASY|COASY|COASY|PSMC3IP	Adipose_Visceral_Omentum|Brain_Cerebellum|Esophagus_Muscularis|Spleen	rs150695787	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.010101	0.024457	0.017544	0.000000	0.008621	0.045732	0.007576	0.02632	2371.33	127	chr17	43013615	.	G	A	2371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=2074;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.52;SOR=0.698	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	18	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.02632	1309.33	98	chr17	43013785	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=1165;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.035;SOR=0.713	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	18	0	1	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	33	chr17	43021953	.	C	T	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=705;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.958;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	18	0	1	0
chr17	43091492	43091492	T	C	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.A3898G:p.R1300G,BRCA1:NM_007294:exon10:c.A4039G:p.R1347G,BRCA1:NM_007300:exon10:c.A4039G:p.R1347G	.	0	1521	1	0	0	1	0.000328623	.	.	YES	50260	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_1|Familial_cancer_of_breast|BRCA1-related_cancer_predisposition|not_provided|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0700268,MedGen:CN377757|MedGen:C3661900|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.527	0.286124731888	0.0048	0.000599042	0.0040	0.0011	0.0012	0	0.0012	0.0064	0.0022	0.0011	0.0042108	651	154602	rs28897689	0.0060	0.0060	0.0062	0.0057	0.0072	0.0058	0.0058	0.0071	0.0070	0.0007	0.0017	0.0009	0	0.0025	0.0003	0.0072	0.0051	0.0010	0.0041	0.0041	0.0045	0.0036	0.0064	0.0038	0.0037	0.0059	0.0057	0.0016	0.0329	0.0031	0.0020	0	0.0018	0	0.0064	0.0028	0.0010	0.175	0.24372	T	0.358	0.57587	T	0.255	0.31319	B	0.071	0.27960	B	0.017996	0.27589	N	0.312698	1	0.21331	N	2.135	0.59519	M	-2.36	0.89071	D	-0.82	0.27876	N	0.358	0.53972	-0.3762	0.72770	T	0.450	0.78455	T	10	0.007952005	0.00181	T	0.286125	0.90402	D	0.527	0.80007	.	.	0.849029446195	0.84758	0.15429102817380136	0.15350	0.351719312492	0.37009	0.252207577229	0.04004	T	0.185094	0.53796	T	-0.150285	0.28267	T	0.0176056	0.71475	D	0.00815700555301208	0.00097	T	0.90161	0.67446	D	0.08395542	0.19409	0.078762874	0.17672	0.06657545	0.14336	0.088083625	0.20515	-3.011	0.10629	T	0.4744641287373242	0.55430	0.118	0.24226	B	.;.;.;.	.;.;.;.	2.263087	0.28918	17.95	0.99127449213642682	0.53169	0.64987	0.32587	D	AEFDBI	0.334199	0.43304	N	-0.344752951647033	0.27465	1.507092	-0.293686868165548	0.28305	1.577321	0.893887537960173	0.25916	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.19	2.98	0.33575	1.192000	0.31759	0.577000	0.19666	0.665000	0.62972	0.992000	0.37556	0.672000	0.26072	0.779000	0.36868	0.0:0.0819:0.1624:0.7557	6.180	0.19678	520	0.74355	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1581.33	58	chr17	43091492	.	T	C	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.253;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=1.69;SOR=0.629	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1071	431.39	47	chr17	43209576	.	C	T	431.39	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.417;DP=821;ExcessHet=0.3672;FS=184.512;InbreedingCoeff=-0.1723;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.944;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:32,0:32:0:.:.:0,0,427:.	11	0	3	5
chr17	43493534	43493534	G	A	exonic	DHX8	.	nonsynonymous SNV	DHX8:NM_001322217:exon6:c.G680A:p.R227K,DHX8:NM_001302623:exon7:c.G953A:p.R318K,DHX8:NM_001322216:exon7:c.G128A:p.R43K,DHX8:NM_001322218:exon7:c.G947A:p.R316K,DHX8:NM_001322219:exon7:c.G953A:p.R318K,DHX8:NM_001322220:exon7:c.G953A:p.R318K,DHX8:NM_001322221:exon7:c.G947A:p.R316K,DHX8:NM_004941:exon7:c.G953A:p.R318K	.	427	1094	1	0	0	1	0.00045683	.	.	.	3434196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0105281128584	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs762412448	4.72e-05	4.72e-05	5.309e-05	4.125e-05	0.0003	3.793e-05	3.476e-05	6.092e-05	3.944e-05	2.987e-05	4.472e-05	0	0	0	0.0003	5.486e-05	3.311e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.93	0.02777	T	0.004	0.12183	B	0.006	0.14941	B	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	-0.45	0.02807	N	0.89	0.45636	T	0.54	0.02764	N	0.333	0.37405	-0.9823	0.34468	T	0.037	0.15943	T	10	0.120913476	0.22911	T	0.010528	0.27174	T	0.129	0.35316	0.395	0.42099	0.366092821824	0.36220	0.46831800006681706	0.46750	0.501765593626	0.48553	0.884248018265	0.94525	D	0.007833	0.14702	T	-0.243455	0.14912	T	-0.490628	0.23325	T	0.147022308124564	0.16864	T	0.965903	0.87416	D	0.21902148	0.44424	0.2708841	0.52983	0.21902148	0.44423	0.2708841	0.52982	-9.108	0.68388	D	.	.	0.100	0.16973	B	.;.	.;.	3.040495	0.40762	21.2	0.75549152279112575	0.11118	0.98047	0.79151	D	AEFDBI	0.800006	0.72610	D	-0.309477894946534	0.28787	1.590759	0.0192946937550175	0.40610	2.426454	0.999580067927973	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.672000	0.82948	11.808000	0.96852	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.843	0.92159	553	0.71930	S1 domain|S1 domain|RNA-binding domain, S1;S1 domain|S1 domain|RNA-binding domain, S1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2002.33	33	chr17	43493534	.	G	A	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=793;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.411;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1437	18	0	1	0
chr17	44005037	44005037	C	A	exonic	NAGS	.	nonsynonymous SNV	NAGS:NM_153006:exon1:c.C374A:p.T125K	N-acetylglutamate synthase deficiency, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	YES	364128	NAGS-related_disorder|not_specified|Hyperammonemia,_type_III|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.346	.	0.0016	0.000998403	0.0063	0.0018	0.0052	0.0008	0	0.0058	0.0106	0.0084	0.0018046	279	154602	rs185863881	0.0036	0.0035	0.0034	0.0037	0.0072	0.0035	0.0034	0.0068	0.0066	0.0007	0.0024	0.0010	7.958e-05	0.0002	0.0016	0.0037	0.0036	0.0072	0.0020	0.0020	0.0023	0.0016	0.0052	0.0018	0.0017	0.0036	0.0031	0.0007	0	0.0019	0.0012	0	0.0006	0	0.0030	0.0014	0.0052	1.0	0.00964	T	0.764	0.30534	T	0.358	0.33818	B	0.245	0.38823	B	0.027343	0.25770	N	0.340582	0.810041	0.34628	D	0.895	0.22405	L	-2.8	0.91076	D	1.66	0.00606	N	0.367	0.40864	-0.4225	0.71310	T	0.415	0.76245	T	10	0.007922173	0.00180	T	.	.	.	0.346	0.66769	.	.	0.825095527755	0.82344	0.4900396173382061	0.48923	0.91577893214	0.71236	0.335884690285	0.15822	T	0.260773	0.63218	T	-0.272702	0.11457	T	-0.161187	0.58245	T	0.0104722304067292	0.00145	T	0.677032	0.28590	T	0.0523633	0.09755	0.07671538	0.17018	0.05123286	0.09376	0.089182824	0.20839	-0.432	0.00543	T	0.17196933941002396	0.21707	0.148	0.34004	B	.;.	.;.	1.617683	0.20668	14.85	0.92866617794851669	0.22409	0.84107	0.43191	D	AEFDBHCI	0.386975	0.46714	N	-0.624946908057633	0.18197	0.9428163	-0.537857217154159	0.21128	1.141553	0.999981746453922	0.51787	0.652421	0.48094	0	0.616487	0.53143	0	0.64067	0.45733	0	0.657601	0.63696	0	.	.	4.57	1.06	0.19341	1.249000	0.32441	0.349000	0.17458	-0.171000	0.11205	0.021000	0.19753	0.000000	0.08366	0.996000	0.76049	0.0:0.7045:0.0:0.2955	8.408	0.31788	706	0.57215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003106	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.019380	0.02632	1247.33	34	chr17	44005037	.	C	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.299;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	18	0	1	0
chr17	44040183	44040183	A	G	exonic	LSM12	.	nonsynonymous SNV	LSM12:NM_001369486:exon2:c.T158C:p.L53P,LSM12:NM_001369484:exon3:c.T332C:p.L111P,LSM12:NM_001369485:exon3:c.T332C:p.L111P,LSM12:NM_001371445:exon3:c.T332C:p.L111P,LSM12:NM_152344:exon4:c.T332C:p.L111P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0116894883245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.545	0.09588	T	0.0	0.02946	B	0.002	0.06944	B	0.001357	0.39310	N	0.226272	1	0.81001	D	-1.505	0.00499	N	1.69	0.27032	T	4.37	0.00040	N	0.487	0.53796	-0.9889	0.32878	T	0.021	0.08870	T	10	0.21163368	0.37597	T	0.011689	0.29566	T	0.147	0.38986	0.447	0.50629	0.043077524339	0.03247	0.4887571622117416	0.48795	0.31584860799	0.33860	0.805840671062	0.82854	D	0.006444	0.05872	T	-0.146958	0.28789	T	-0.448871	0.27821	T	0.618984561183364	0.37164	D	0.849215	0.53152	T	0.39871705	0.60643	0.43962565	0.67308	0.39871705	0.60644	0.43962565	0.67309	-3.147	0.11843	T	.	.	0.111	0.21428	B	.;.;.	.;.;.	3.344896	0.46112	22.2	0.99592376644482195	0.73690	0.96702	0.70484	D	AEFDGBI	0.901138	0.84748	D	-0.287492856006736	0.29631	1.644879	0.030949771751628	0.41161	2.468215	0.999999988701556	0.74766	0.489673	0.17934	0	0.577304	0.33150	0	0.759307	0.98198	0	0.662433	0.64102	0	.	.	5.74	5.74	0.90070	7.429000	0.79493	9.325000	0.80080	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.311	0.73742	640	0.64132	Anticodon-binding domain|Anticodon-binding domain;Anticodon-binding domain|Anticodon-binding domain;Anticodon-binding domain|Anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	33	chr17	44040183	.	A	G	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.355;DP=730;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.455;SOR=0.886	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	18	0	1	0
chr17	44254581	44254581	C	T	exonic	SLC4A1	.	nonsynonymous SNV	SLC4A1:NM_000342:exon16:c.G1972A:p.E658K	Cryohydrocytosis, Autosomal dominant;Ovalocytosis, SA type, Autosomal dominant;Renal tubular acidosis, distal, AD, Autosomal dominant;Renal tubular acidosis, distal, AR, Autosomal recessive;Spherocytosis, type 4, Autosomal dominant	0	1518	3	1	0	5	0.0016442	.	.	.	32798	Cryohydrocytosis|Autosomal_dominant_distal_renal_tubular_acidosis|Renal_tubular_acidosis,_distal,_4,_with_hemolytic_anemia|BLOOD_GROUP--WALDNER_TYPE|BLOOD_GROUP--FROESE|BLOOD_GROUP--WRIGHT_ANTIGEN|BLOOD_GROUP--SWANN_SYSTEM|BLOOD_GROUP--DIEGO_SYSTEM|Southeast_Asian_ovalocytosis|Malaria,_susceptibility_to|Hereditary_spherocytosis_type_4|Hemolytic_anemia|not_provided|not_specified	MONDO:MONDO:0008494,MedGen:C1861453,OMIM:185020,Orphanet:398088|MONDO:MONDO:0008368,MedGen:CN280572,OMIM:179800,Orphanet:93608|MONDO:MONDO:0012700,MedGen:C5436235,OMIM:611590,Orphanet:93610|MedGen:C1862191,OMIM:112010|MedGen:C1832168,OMIM:601551|MedGen:C1862190,OMIM:112050|MedGen:C1832169,OMIM:601550|MedGen:C1292286,OMIM:110500|MONDO:MONDO:0008165,MedGen:C1862322,OMIM:166900,Orphanet:98868|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0012981,MedGen:C2675212,OMIM:612653,Orphanet:822|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.425	0.039908357602	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs75731670	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0004	0.0003	0	0.0003	0	0	7.49e-05	0.0009	0.0004	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0	0	0	9.427e-05	0	0.0005	0.0009	0	0.105	0.29823	T	0.223	0.25670	T	0.001	0.07471	B	0.006	0.12133	B	0.000087	0.00436	N	4.068130	1.24641e-14	0.08975	A	-0.05	0.04954	N	-1.16	0.78082	T	-0.42	0.14193	N	0.296	0.71055	-0.8609	0.51198	T	0.250	0.61969	T	10	0.5111048	0.62101	D	0.039908	0.59076	D	0.425	0.73299	.	.	0.987699218438	0.98756	0.42795184809072734	0.42712	0.391724164423	0.40370	0.248115330935	0.03572	T	0.266335	0.63828	T	-0.219549	0.18055	T	-0.247166	0.50097	T	0.0237963757518711	0.01119	T	0.661834	0.27067	T	0.21896526	0.44417	0.105928235	0.25473	0.13615762	0.31573	0.15476955	0.36308	-3.87	0.21854	T	.	.	0.070	0.09191	B	.;.	.;.	-2.133549	0.00075	0.001	0.81888713537473612	0.13911	0.05163	0.10978	N	AEFDBCI	0.177335	0.30457	N	-1.86612435494924	0.00403	0.01731357	-1.99771522131584	0.00310	0.01367536	0.999999217860768	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.66	-11.3	0.00084	-6.298000	0.00088	-20.000000	0.00162	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0486:0.5827:0.1721:0.1966	13.778	0.62557	422	0.81333	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2629.33	37	chr17	44254581	.	C	T	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.878;DP=894;ExcessHet=0;FS=0.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.65;SOR=0.657	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1421	18	0	1	0
chr17	44349731	44349731	G	A	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon4:c.G329A:p.R110Q	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	0	1521	0	1	0	2	0.00065703	.	.	YES	580231	Inborn_genetic_diseases|GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|Neuronal_ceroid_lipofuscinosis_11	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0119815264466	7.7e-05	0.000199681	9.375e-05	0	8.919e-05	0.0001	0	4.625e-05	0	0.0004	7.76e-05	12	154602	rs375439809	6.658e-05	7.115e-05	6.013e-05	7.308e-05	0.0003	5.58e-05	5.169e-05	0.0002	0.0002	8.986e-05	0.0001	0	5.041e-05	0	0.0003	4.784e-05	0.0001	0.0003	9.189e-05	9.186e-05	0.0001	5.368e-05	0.0003	5.522e-05	4.36e-05	8.866e-05	5.279e-05	9.619e-05	0	0.0003	0	0.0002	0	0	7.349e-05	0	0	0.533	0.06957	T	0.435	0.13518	T	0.0	0.02946	B	0.002	0.06944	B	0.301813	0.03959	N	1.620550	1	0.08975	N	-0.265	0.03777	N	-0.59	0.71543	T	-0.51	0.15986	N	0.179	0.25006	-0.8730	0.50302	T	0.149	0.47505	T	10	0.01883328	0.00414	T	0.011982	0.30135	T	0.167	0.42761	.	.	0.372087925617	0.36815	0.16740576267665724	0.16660	0.269708738211	0.29493	0.172193616629	0.00041	T	0.059044	0.31008	T	-0.440867	0.01278	T	-0.570727	0.15383	T	0.00699848424371086	0.00080	T	0.374163	0.38892	T	0.018794123	0.00403	0.047696564	0.06927	0.01879491	0.00402	0.033775482	0.02329	-5.674	0.43461	T	.	.	0.057	0.01126	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.195712	0.03111	0.495	0.8240802475759329	0.14176	0.00206	0.01180	N	AEFBI	0.350721	0.44407	N	-1.98872984237261	0.00224	0.009586239	-2.06194842235766	0.00225	0.009933665	0.999999991249309	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.11	-8.22	0.00910	-1.476000	0.02439	-4.980000	0.01901	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.7355:0.0:0.2645:0.0	16.739	0.85316	501	0.75956	Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;Granulin|Granulin;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	751.33	42	chr17	44349731	.	G	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.21;DP=736;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.23;SOR=0.434	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1190	18	0	1	0
chr17	44350293	44350293	T	C	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon5:c.T415C:p.C139R	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	0	1518	3	1	0	5	0.0016442	.	.	.	580336	GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|not_provided|Inborn_genetic_diseases|GRN-related_disorder|Neuronal_ceroid_lipofuscinosis_11	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.837	0.711671180279	.	.	0.0002	0	8.639e-05	0	0	0.0002	0	0.0004	0.0001423	22	154602	rs763841075	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	2.987e-05	0.0002	3.827e-05	0	3.744e-05	0.0042	0.0001	0.0002	0.0003	9.921e-05	9.871e-05	9.039e-05	0.0001	0.0002	6.045e-05	4.91e-05	9.072e-05	7.03e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000426	0.44522	D	0.095317	1	0.81001	D	3.875	0.95948	H	-2.46	0.92613	D	-11.16	0.99359	D	0.944	0.96871	0.927	0.96059	D	0.864	0.95458	D	10	0.9876051	0.99135	D	0.711671	0.97655	D	0.837	0.94877	.	.	0.999776827429	0.99977	0.9844626788853934	0.98439	1.1666736912	0.79651	0.649969637394	0.59982	T	0.455374	0.81609	T	0.273471	0.80751	D	0.465564	0.93909	D	0.994701504707336	0.86158	D	0.788521	0.51841	T	0.9084609	0.92152	0.8884649	0.94159	0.92792344	0.94030	0.87885445	0.93482	-12.505	0.87223	D	0.9232182038188216	0.96702	0.962	0.88362	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.251860	0.64550	24.7	0.9921143879297224	0.55594	0.99295	0.94095	D	AEFDBI	0.945788	0.95449	D	0.647693614577363	0.76219	6.446319	0.468476990666507	0.65912	4.884093	0.999999996314193	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	5.062000	0.64156	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.038000	0.14061	0.0:0.0:0.0:1.0	11.308	0.48584	501	0.75956	Granulin|Granulin;Granulin|Granulin;.;.;Granulin|Granulin;Granulin|Granulin;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	2193.33	105	chr17	44350293	.	T	C	2193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.104;DP=1466;ExcessHet=0;FS=1.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.391;SOR=0.783	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	18	0	1	0
chr17	44399208	44399208	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2635T:p.R879W,GPATCH8:NM_001304939:exon7:c.C2794T:p.R932W,GPATCH8:NM_001304942:exon7:c.C2635T:p.R879W,GPATCH8:NM_001002909:exon8:c.C2869T:p.R957W,GPATCH8:NM_001304941:exon9:c.C2635T:p.R879W,GPATCH8:NM_001304940:exon10:c.C2635T:p.R879W	.	424	1082	14	2	0	18	0.00824931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0395172923401	0.0012	0.000998403	0.0014	0.0007	0.0013	0.0001	0.0009	0.0019	0	0.0010	0.0014748	228	154602	rs118151586	0.0016	0.0016	0.0016	0.0017	0.0045	0.0016	0.0016	0.0032	0.0027	0.0003	0.0016	0.0019	0	0.0011	0.0045	0.0018	0.0018	0.0010	0.0016	0.0016	0.0017	0.0015	0.0033	0.0014	0.0014	0.0026	0.0023	0.0004	0.0011	0.0033	0.0020	0.0002	0.0009	0.0102	0.0021	0.0024	0.0015	.	.	.	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999376	0.46831	D	0.895	0.22405	L	2.28	0.17271	T	.	.	.	0.33	0.37093	-1.1294	0.01811	T	0.067	0.27640	T	10	0.012443721	0.00267	T	0.039517	0.58854	D	.	.	.	.	0.244449712813	0.24043	0.5119524178810493	0.51117	0.14612908303	0.16499	0.696727156639	0.66671	T	0.165489	0.51136	T	-0.473663	0.00807	T	-0.459328	0.26671	T	0.0250613085658751	0.01281	T	0.931907	0.74605	D	0.32208768	0.54816	0.1886818	0.42173	0.32208768	0.54816	0.1886818	0.42172	-7.813	0.59789	D	.	.	0.187	0.40392	B	.	.	3.441960	0.47889	22.5	0.98605998675133144	0.43572	0.93124	0.57389	D	AEFGBCI	0.681268	0.64468	D	0.0347309636097684	0.43441	2.636941	0.000785525983892796	0.39752	2.361828	0.0289572544297276	0.13860	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.97	1.7	0.23359	1.417000	0.34378	3.978000	0.40881	-0.153000	0.12021	0.945000	0.32849	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.4389:0.5611	13.776	0.62540	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3349.33	43	chr17	44399208	.	G	A	3349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.478;SOR=0.718	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr17	44751116	44751116	T	A	exonic	DBF4B	.	nonsynonymous SNV	DBF4B:NM_145663:exon14:c.T1711A:p.S571T	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00325142131755	0.0029	0.00199681	0.0026	0.0006	0.0017	0	0.0012	0.0037	0.0011	0.0024	0.0027878	431	154602	rs117190451	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0051	0.0006	0.0021	0.0005	0	0.0009	0.0016	0.0053	0.0033	0.0025	0.0029	0.0029	0.0032	0.0025	0.0044	0.0026	0.0026	0.0040	0.0038	0.0007	0.0307	0.0030	0.0006	0	0.0010	0.0068	0.0044	0.0038	0.0023	0.0	0.91255	D	.	.	.	0.027	0.19556	B	0.007	0.12992	B	0.001658	0.00810	U	26.102800	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	-0.53	0.16393	N	0.078	0.05287	-1.1040	0.03640	T	0.039	0.16892	T	9	0.0058712065	0.00131	T	0.003251	0.07177	T	0.041	0.10877	.	.	0.388653054685	0.38476	0.07158533498302981	0.07095	0.182716278974	0.20537	0.281637132168	0.07722	T	0.004089	0.03502	T	-0.625669	0.00102	T	-0.669587	0.07635	T	0.00753311086931852	0.00087	T	0.242476	0.03503	T	0.089047	0.20793	0.066293694	0.13558	0.089047	0.20793	0.066293694	0.13557	-4.281	0.27910	T	.	.	0.099	0.16800	B	.	.	0.839488	0.12109	8.663	0.91796550002149169	0.21101	0.02853	0.07613	N	AEFDBI	0.023758	0.01370	N	-1.30393602074445	0.03630	0.1624895	-1.37445750908923	0.03526	0.1646641	2.59555045583535E-4	0.06190	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.02	-2.68	0.05686	0.010000	0.13140	0.229000	0.16167	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1216:0.1876:0.3244	0.435	0.00445	475	0.77788	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1810.33	37	chr17	44751116	.	T	A	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.511;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.49;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	18	0	1	0
chr17	44772292	44772292	G	A	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_002390:exon7:c.G569A:p.R190Q	.	427	1082	12	1	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00910905620197	0.0032	0.00239617	0.0045	0.0013	0.0039	0.0003	0.0016	0.0064	0.0038	0.0033	0.0032018	495	154602	rs116926739	0.0047	0.0047	0.0048	0.0046	0.0097	0.0046	0.0046	0.0076	0.0069	0.0015	0.0031	0.0006	0	0.0011	0.0097	0.0055	0.0042	0.0028	0.0033	0.0033	0.0036	0.0030	0.0047	0.0031	0.0030	0.0043	0.0041	0.0014	0.0301	0.0035	0.0006	0.0002	0.0014	0.0138	0.0047	0.0052	0.0026	0.066	0.36113	T	0.122	0.35710	T	0.091	0.25247	B	0.009	0.14300	B	0.030802	0.25256	N	0.274240	0.998964	0.81001	D	0.83	0.20963	L	4.29	0.02462	T	-1.88	0.43906	N	0.21	0.23380	-0.7687	0.56929	T	0.004	0.01365	T	10	0.00668329	0.00152	T	0.009109	0.23965	T	0.047	0.12962	.	.	0.238705975628	0.23479	0.8496241457792895	0.84924	0.583003539302	0.54033	0.49395018816	0.37987	T	0.130477	0.45940	T	-0.503	0.00550	T	-0.49269	0.23110	T	0.0175279911412485	0.00488	T	0.811219	0.46271	T	0.08754011	0.20388	0.07300469	0.15816	0.08754011	0.20388	0.07300469	0.15816	-7.586	0.58213	D	.	.	0.083	0.09143	B	.	.	5.128834	0.85820	28.7	0.97861285953251043	0.36465	0.74644	0.36520	D	AEFBI	0.257001	0.37581	N	-0.200655042787416	0.33107	1.874611	0.0104876722051516	0.40202	2.395428	0.0494714487045288	0.14806	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.365000	0.33786	9.871000	0.82128	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0965:0.0:0.9035:0.0	9.545	0.38440	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010132	0.000000	0.017663	0.002924	0.000000	0.008621	0.015528	0.003788	0.02632	441.36	34	chr17	44772292	.	G	A	441.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=701;ExcessHet=0;FS=10.319;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.994;SOR=1.376	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,947	18	0	1	0
chr17	44902549	44902549	A	C	exonic	CCDC103	.	nonsynonymous SNV	CCDC103:NM_001258395:exon4:c.A461C:p.H154P,CCDC103:NM_001258396:exon4:c.A461C:p.H154P,CCDC103:NM_213607:exon4:c.A461C:p.H154P	Ciliary dyskinesia, primary, 17, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	40358	Respiratory_ciliopathies_including_non-CF_bronchiectasis|Primary_ciliary_dyskinesia_17|CCDC103-related_disorder|not_provided|Primary_ciliary_dyskinesia|Infertility_disorder	.|MONDO:MONDO:0013854,MedGen:C3542550,OMIM:614679,Orphanet:244|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.243	0.0461051718083	0.0010	.	0.0013	0.0003	0.0013	0	0.0002	0.0012	0	0.0033	0.0012548	194	154602	rs145457535	0.0019	0.0019	0.0018	0.0019	0.0030	0.0018	0.0018	0.0027	0.0026	0.0001	0.0008	3.826e-05	0	0.0001	0.0009	0.0021	0.0014	0.0030	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0019	0.0018	0.0004	0	0.0008	0	0.0002	0.0002	0	0.0021	0	0.0025	0.053	0.38863	T	0.185	0.28958	T	0.927	0.51527	P	0.596	0.50617	P	0.139495	0.18342	U	0.421589	0.999996	0.08975	N	2.48	0.72069	M	0.45	0.56446	T	-2.4	0.52776	N	0.684	0.79118	-0.8268	0.53505	T	0.209	0.56852	T	10	0.019673496	0.00442	T	0.046105	0.62300	D	0.243	0.54921	.	.	0.656596202622	0.65372	0.7232445532184795	0.72268	0.767658885663	0.64594	0.389887422323	0.23654	T	0.281824	0.65456	T	-0.126471	0.32070	T	0.0434515	0.73154	D	0.790224134922028	0.45704	D	0.592841	0.21881	T	0.84354484	0.86863	0.82285327	0.89722	0.84354484	0.86864	0.82285327	0.89723	-3.332	0.14153	T	0.253428909776544	0.34281	0.390	0.59034	A	.;.;.;.	.;.;.;.	3.468840	0.48388	22.6	0.86143836211831848	0.16341	0.91879	0.54461	D	AEFDGBI	0.605582	0.59625	D	0.195232853304853	0.50971	3.282123	0.136771154438143	0.46445	2.89036	0.999999650123009	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	5.64	5.64	0.86480	4.276000	0.58729	11.254000	0.90845	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.113000	0.18872	1.0:0.0:0.0:0.0	14.585	0.67909	764	0.49969	RNA-polymerase II-associated protein 3-like, C-terminal domain;RNA-polymerase II-associated protein 3-like, C-terminal domain;RNA-polymerase II-associated protein 3-like, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2486.33	143	chr17	44902549	.	A	C	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=1638;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.68;SOR=0.694	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1309	18	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2398.33	40	chr17	44904956	.	C	T	2398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=857;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.335;SOR=0.809	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	44934331	44934331	T	C	exonic	KIF18B	.	nonsynonymous SNV	KIF18B:NM_001264573:exon6:c.A787G:p.S263G,KIF18B:NM_001265577:exon6:c.A787G:p.S263G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0274527135276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197800087	7.55e-06	8.209e-06	6.824e-06	8.283e-06	9.911e-06	4.05e-06	2.96e-06	5.32e-06	3.89e-06	0	0	0	0	0	0	9.911e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.067	0.45961	T	0.321	0.33029	B	0.205	0.37080	B	0.008150	0.30992	N	0.151062	0.981	0.25100	N	1.71	0.44315	L	-0.94	0.75325	T	.	.	.	0.301	0.35938	-0.6578	0.62373	T	0.301	0.67195	T	10	0.24176791	0.41360	T	0.027453	0.50258	D	.	.	0.355	0.35571	0.77148583938	0.76938	0.4127902283383487	0.41195	0.4343084013	0.43568	0.446520507336	0.31468	T	0.027853	0.20306	T	-0.127104	0.31967	T	-0.400081	0.33374	T	0.498046547174454	0.32558	T	0.927907	0.73422	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.10352	B	.;.;.	.;.;.	3.335513	0.45935	22.2	0.99608941518380545	0.74694	0.82462	0.41686	D	AEFGBCI	0.136804	0.25759	N	0.049510939538189	0.44120	2.691882	0.159056222982974	0.47622	2.989834	0.906996649346867	0.26246	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	3.86	0.43689	2.222000	0.42568	6.178000	0.54590	0.665000	0.62972	0.771000	0.29368	1.000000	0.68203	0.987000	0.62547	0.0:0.188:0.1575:0.6545	4.968	0.13447	740	0.53092	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	35	chr17	44934331	.	T	C	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.004;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.196;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr17	45024467	45024467	T	C	exonic	DCAKD	.	nonsynonymous SNV	DCAKD:NM_001128631:exon5:c.A662G:p.Y221C,DCAKD:NM_001288654:exon5:c.A662G:p.Y221C,DCAKD:NM_001288655:exon5:c.A662G:p.Y221C,DCAKD:NM_001321326:exon5:c.A662G:p.Y221C,DCAKD:NM_024819:exon5:c.A662G:p.Y221C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0151722201468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.754e-06	5.978e-05	5.5e-07	1.5e-07	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	9.002e-07	0	0	6.579e-06	1.314e-05	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.047	0.40319	D	0.085	0.41074	T	0.997	0.70673	D	0.841	0.60228	P	0.006698	0.31864	N	0.331917	0.999637	0.47961	D	2.045	0.56016	M	0.83	0.47815	T	-0.87	0.23590	N	0.2	0.25253	-0.8199	0.53940	T	0.186	0.53631	T	10	0.34980762	0.51866	T	0.015172	0.35746	T	0.184	0.45763	0.59	0.71874	0.630135089153	0.62710	.	.	0.308903704434	0.33204	0.513333499432	0.40689	T	0.039585	0.25240	T	-0.0496303	0.44504	T	-0.309067	0.43760	T	0.453320434824447	0.30919	T	0.547145	0.18749	T	0.09595004	0.22591	0.067387685	0.13933	0.09595004	0.22591	0.067387685	0.13933	-4.23	0.27184	T	.	.	0.129	0.27702	B	.;.;.;.;.	.;.;.;.;.	2.947906	0.39217	20.9	0.98639373244922324	0.44028	0.90659	0.52020	D	AEFDGBI	0.339373	0.43654	N	0.406156486891768	0.61761	4.381601	0.392400511391155	0.61097	4.305029	0.911378778765922	0.26365	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	1.187000	0.31699	3.515000	0.38865	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.1542:0.0:0.0:0.8458	9.682	0.39241	604	0.67577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	85	chr17	45024467	.	T	C	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=747;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.03;SOR=0.456	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr17	45149566	45149566	G	A	exonic	HEXIM1	.	nonsynonymous SNV	HEXIM1:NM_006460:exon1:c.G376A:p.E126K	.	366	1154	2	0	0	2	0.000865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0153761871617	.	.	3.374e-05	0	0	0	0	4.103e-05	0	6.676e-05	1.94e-05	3	154602	rs776691576	1.923e-05	2.052e-05	2.322e-05	1.519e-05	0.0005	1.333e-05	1.148e-05	0.0001	7.55e-05	0	0	0	0	0	0.0005	1.802e-05	4.985e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.85	0.03507	T	0.876	0.48154	P	0.228	0.38116	B	0.100699	0.19874	U	0.385573	1	0.08975	N	1.79	0.46772	L	.	.	.	0.12	0.05604	N	0.139	0.13769	-1.0527	0.13655	T	0.053	0.22423	T	9	0.19798374	0.35751	T	0.015376	0.36078	T	0.085	0.24743	0.135	0.03920	0.158540857583	0.15491	0.10743004321378156	0.10672	1.01481861233	0.74903	0.677136540413	0.63858	T	0.11719	0.43709	T	-0.175921	0.24344	T	-0.389845	0.34570	T	0.749129712581635	0.43237	D	0.671533	0.28021	T	0.16911177	0.37408	0.18868624	0.42173	0.16911177	0.37407	0.18868624	0.42172	-5.425	0.41159	T	0.15054244755661306	0.17691	0.075	0.05447	B	.	.	3.433908	0.47740	22.5	0.99646220830566012	0.77005	0.39847	0.26304	N	ALL	0.344860	0.44021	N	0.0133955576113463	0.42462	2.559028	0.0778587880866146	0.43437	2.645473	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.09	4.09	0.47038	5.122000	0.64536	6.320000	0.55443	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	11.660	0.50602	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1334.33	106	chr17	45149566	.	G	A	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=1508;ExcessHet=0;FS=4.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.212;SOR=0.999	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1348,0,1856	18	0	1	0
chr17	45445602	45445602	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon9:c.A2705T:p.Q902L	Osteopetrosis, autosomal recessive 6	0	1498	22	2	0	26	0.00860357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0749909675046	.	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0056	0.0006856	106	154602	rs202150970	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0054	2.988e-05	0.0001	0	0	0	0.0026	0.0001	0.0004	0.0059	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0041	0.012	0.54683	D	0.162	0.31225	T	0.393	0.34680	B	0.167	0.35118	B	0.006550	0.31955	N	0.303860	0.921527	0.36692	D	0.74	0.18910	N	-0.16	0.65378	T	-3.97	0.73684	D	0.457	0.49420	-0.8326	0.53133	T	0.136	0.45164	T	10	0.008028686	0.00182	T	0.074991	0.72178	D	0.193	0.47281	.	.	0.58541143898	0.58214	0.47933704477401223	0.47853	1.12430380814	0.78398	0.40170788765	0.25306	T	0.286848	0.65963	T	-0.347536	0.04883	T	-0.270069	0.47812	T	0.0756488155978868	0.09422	T	.	.	.	0.28866607	0.51868	0.30442202	0.56471	0.25537038	0.48571	0.26456544	0.52277	-6.071	0.46869	T	.	.	0.171	0.37633	B	.	.	3.909595	0.57010	23.8	0.98840135051041955	0.47102	0.92204	0.55177	D	AEFGBI	0.572506	0.57606	D	-0.0028271487652555	0.41727	2.501141	0.112093294982156	0.45165	2.784664	0.999970400608632	0.50053	0.489673	0.17934	0	0.653731	0.59785	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.59	4.59	0.56297	3.551000	0.53445	7.828000	0.70003	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.1954:0.8046	8.549	0.32601	368	0.84463	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002870	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.008197	0.02632	897.33	36	chr17	45445602	.	T	A	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.86;MQRankSum=-1.373;QD=10.56;ReadPosRankSum=0.076;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr17	45453534	45453534	C	T	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon7:c.G2318A:p.R773H,PLEKHM1:NM_014798:exon7:c.G2318A:p.R773H	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0742424834526	.	.	7.06e-05	0	0	0	0	0.0001	0	0	.	.	.	rs770172393	1.718e-05	1.779e-05	1.777e-05	1.659e-05	3.004e-05	1.18e-05	9.97e-06	1.3e-05	1.11e-05	3.004e-05	0	0	0	0	0	1.986e-05	1.664e-05	1.169e-05	6.587e-06	6.568e-06	1.288e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.28	0.64929	M	-0.18	0.65747	T	-2.67	0.57110	D	0.692	0.69737	-0.3728	0.72876	T	0.330	0.69800	T	10	0.7564359	0.76018	D	0.074242	0.71992	D	0.372	0.69102	0.483	0.56462	0.589392501938	0.58614	0.623679946506692	0.62300	1.97030917324	0.93550	0.667167842388	0.62435	T	0.254435	0.62509	T	0.0121077	0.53313	T	-0.0227415	0.68847	D	0.588946197820762	0.35965	D	.	.	.	0.45064166	0.64081	0.24747142	0.50277	0.45064166	0.64082	0.24747142	0.50276	-10.829	0.78712	D	.	.	0.234	0.46791	B	.	.	5.244668	0.88051	29.5	0.99954408531625627	0.99963	0.98131	0.79864	D	AEFBI	0.858704	0.77626	D	0.626280304014912	0.74841	6.201826	0.618975700982049	0.76317	6.469048	0.999896722951531	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	7.492000	0.80315	7.638000	0.63056	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	16.891	0.85955	368	0.84463	Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	544.33	35	chr17	45453534	.	C	T	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=619;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.35;MQRankSum=1.48;QD=18.14;ReadPosRankSum=0.524;SOR=0.665	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr17	45458377	45458377	C	G	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon6:c.G1371C:p.E457D,PLEKHM1:NM_014798:exon6:c.G1371C:p.E457D	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0143580586789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.355	0.17217	T	0.0	0.02946	B	0.001	0.04355	B	0.235168	0.15833	N	0.649867	1	0.08975	N	0.95	0.23787	L	-0.08	0.63911	T	-0.45	0.14782	N	0.059	0.03069	-1.0571	0.12491	T	0.122	0.42399	T	10	0.07083118	0.10358	T	0.014358	0.34425	T	0.084	0.24469	0.104	0.01698	0.289027227714	0.28505	0.16051422750294267	0.15972	0.650261180332	0.58318	0.2887776196	0.08745	T	0.032681	0.22592	T	-0.266663	0.12132	T	-0.620819	0.11121	T	0.0419315515854271	0.04043	T	.	.	.	0.0626745	0.13115	0.06319147	0.12479	0.0626745	0.13114	0.06319147	0.12479	-2.859	0.08739	T	.	.	0.086	0.10787	B	.	.	0.513504	0.08826	5.602	0.78159304771646143	0.12180	0.07958	0.13942	N	AEFI	0.128726	0.24661	N	-0.841131931143868	0.12269	0.5969989	-0.841647642415338	0.13488	0.6999802	1.29878646691437E-5	0.02871	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.12	1.85	0.24418	-0.007000	0.12747	-1.169000	0.06130	0.530000	0.24713	0.005000	0.17040	0.000000	0.08366	0.014000	0.10232	0.2218:0.4783:0.1851:0.1148	2.018	0.03289	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1665.33	33	chr17	45458377	.	C	G	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.857;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.56;MQRankSum=-2.003;QD=14.87;ReadPosRankSum=-1.326;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	18	0	1	0
chr17	45475484	45475484	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon4:c.A539T:p.Y180F,PLEKHM1:NM_014798:exon4:c.A539T:p.Y180F	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	2199715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.020981665443	.	.	0.0001	9.634e-05	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs750041184	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	8.684e-05	8.16e-05	0	0	0.0028	0	1.872e-05	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0001	9.154e-05	7.709e-05	6.805e-05	5.088e-05	0	0	0	0.0032	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.185	0.61350	M	1.61	0.28391	T	-2.09	0.47683	N	0.556	0.58117	-0.9127	0.46518	T	0.162	0.49781	T	10	0.07069197	0.10319	T	0.020982	0.43675	T	0.251	0.56024	.	.	0.485485078511	0.48178	0.3066515638813639	0.30578	1.6978298898	0.90241	0.790589809418	0.80533	T	0.092697	0.39058	T	-0.169508	0.25310	T	-0.276712	0.47141	T	0.221671022927906	0.21547	T	.	.	.	0.4122387	0.61571	0.19525473	0.43193	0.4122387	0.61572	0.19525473	0.43192	-9.081	0.68216	D	.	.	0.209	0.43612	B	.;.;.	.;.;.	4.532114	0.71161	25.6	0.94278669591634079	0.24572	0.99110	0.91373	D	AEFBI	0.885477	0.81603	D	0.696697273460772	0.79416	7.072963	0.67991035442628	0.80854	7.392701	0.99962295896964	0.41093	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	7.740000	0.83913	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.732	0.62277	368	0.84463	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1721.33	35	chr17	45475484	.	T	A	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.63;DP=1012;ExcessHet=0;FS=2.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.56;MQRankSum=0.177;QD=10.69;ReadPosRankSum=0.86;SOR=0.82	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	18	0	1	0
chr17	46171509	46171509	T	C	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.A635G:p.H212R,KANSL1:NM_015443:exon2:c.A635G:p.H212R,KANSL1:NM_001193465:exon3:c.A635G:p.H212R,KANSL1:NM_001379198:exon3:c.A635G:p.H212R	Koolen-De Vries syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	203435	Koolen-de_Vries_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00610514826121	0.0002	0.000399361	0.0004	0	0	0	0	0.0005	0.0011	0.0010	0.0003816	59	154602	rs141110759	0.0004	0.0004	0.0004	0.0005	0.0010	0.0004	0.0004	0.0008	0.0008	0	2.237e-05	7.653e-05	5.038e-05	9.363e-05	0.0007	0.0005	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	6.534e-05	0.0003	0	9.414e-05	0	0.0007	0	0.0023	0.155	0.24183	T	0.481	0.11899	T	.	.	.	.	.	.	0.000004	0.62929	D	0.107759	0.75684	0.81001	D	.	.	.	2.76	0.11515	T	-1.37	0.33998	N	0.581	0.62866	-1.0683	0.09791	T	0.030	0.12935	T	10	0.03336528	0.01511	T	0.006105	0.15964	T	0.135	0.36572	.	.	0.182106788282	0.17826	0.13243438590949957	0.13167	0.0201285817596	0.01973	0.551302194595	0.46041	T	.	.	.	-0.286007	0.10040	T	-0.248361	0.49978	T	0.0661847228434284	0.08105	T	0.80472	0.45238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.25067	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.923471	0.38820	20.8	0.95464049232388237	0.27001	0.91176	0.53009	D	AEFBCI	0.380645	0.46321	N	0.122064048461742	0.47495	2.974311	0.258479791077075	0.53133	3.483799	0.999999947270713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	6.04	4.9	0.63643	2.421000	0.44343	6.136000	0.53985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1587:0.8413	10.765	0.45488	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2133.33	41	chr17	46171509	.	T	C	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.447;DP=1202;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.235;SOR=0.742	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	46297247	46297247	A	C	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.A2114C:p.K705T	.	593	923	6	0	0	6	0.00323974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0115993309011	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199798787	0.0034	0.0028	0.0036	0.0033	0.0071	0.0033	0.0032	0.0060	0.0056	0.0006	0.0071	0.0002	0	0.0029	0.0032	0.0042	0.0046	0.0003	0.0010	0.0026	0.0013	0.0007	0.0013	0.0008	0.0007	0.0009	0.0008	0.0008	0	0.0011	0	0	0	0	0.0013	0	0	0.168	0.23007	T	0.375	0.16376	T	0.947	0.53479	P	0.932	0.66722	D	.	.	.	.	1	0.08975	N	2.57	0.75187	M	0.29	0.59037	T	-3.16	0.64246	D	0.133	0.16447	-0.8855	0.49315	T	0.203	0.56087	T	9	0.078879654	0.12624	T	0.011599	0.29387	T	0.088	0.25558	.	.	0.082315109003	0.07666	0.06780361612492289	0.06718	.	.	0.591137766838	0.51655	T	0.012151	0.10726	T	-0.214747	0.18716	T	-0.546246	0.17687	T	0.793056726455688	0.45890	D	0.605039	0.22725	T	0.15257269	0.34628	0.07797738	0.17422	0.15257269	0.34627	0.07797738	0.17422	-6.089	0.47018	T	.	.	0.127	0.30211	B	.;.	.;.	1.570324	0.20107	14.59	0.98487036650356552	0.42049	0.00355	0.01825	N	AEFI	0.026510	0.02004	N	-0.717698403465264	0.15525	0.7831285	-1.02140896873369	0.09315	0.4627302	4.45607857103555E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.72	-3.45	0.04479	-0.364000	0.07635	0.034000	0.13773	0.240000	0.18237	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.3371:0.4861:0.1768:0.0	3.643	0.07712	0	0.99858	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	551.81	20	chr17	46297247	.	A	C	551.81	.	AC=2;AF=0.053;AN=38;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=0.9971;MLEAC=2;MLEAF=0.053;MQ=24.29;QD=27.59;SOR=6.091	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,1099	18	1	0	0
chr17	46297599	46297599	C	G	exonic	LRRC37A	.	nonsynonymous SNV	LRRC37A:NM_014834:exon1:c.C2466G:p.H822Q	.	589	917	12	4	0	20	0.0107875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00291515082436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879157619	0.0040	0.0033	0.0035	0.0045	0.0098	0.0039	0.0038	0.0091	0.0088	0.0023	0.0014	0.0009	0.0010	0.0005	0.0075	0.0040	0.0041	0.0098	0.0023	0.0033	0.0023	0.0023	0.0042	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0014	0	0	0	0.0076	0.0027	0.0028	0.0042	1.0	0.00964	T	0.572	0.08746	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.83	0.00276	N	0.44	0.56609	T	3.12	0.00125	N	0.06	0.04426	-0.9994	0.30087	T	0.026	0.11220	T	9	0.009739041	0.00219	T	0.002915	0.06162	T	0.123	0.34020	0.265	0.21103	0.043077524339	0.03247	0.03291016964179309	0.03239	.	.	0.548382341862	0.45629	T	0.001844	0.01261	T	-0.342609	0.05209	T	-0.72991	0.04331	T	0.057750507428982	0.06810	T	0.360864	0.08314	T	0.024401037	0.01267	0.033019062	0.02128	0.024401037	0.01267	0.033019062	0.02128	-1.674	0.02162	T	.	.	0.058	0.00949	B	.;.	.;.	-0.460319	0.01997	0.176	0.3274898480012719	0.01914	0.00012	0.00170	N	AEFI	0.011459	0.00102	N	-1.96619832781649	0.00250	0.01070619	-1.89301858655631	0.00505	0.02239063	8.00735564224649E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.36	0.137	0.14085	-0.016000	0.12550	0.224000	0.16109	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1593:0.2331:0.3705:0.2371	0.864	0.01124	0	0.99858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	241.33	18	chr17	46297599	.	C	G	241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.824;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=24.59;MQRankSum=-2.893;QD=7.78;ReadPosRankSum=-0.527;SOR=0.352	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,691	18	0	1	0
chr17	46875355	46875355	G	A	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon3:c.G589A:p.V197M,WNT9B:NM_003396:exon3:c.G589A:p.V197M	.	295	1224	3	0	0	3	0.00122399	.	.	.	1628798	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.587	0.052177547358	7.7e-05	0.000199681	0.0005	0	0.0006	0	0	0.0003	0.0014	0.0026	0.0003622	56	154602	rs201480547	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0016	0.0015	9.011e-05	0.0003	0.0008	5.06e-05	0	0.0021	0.0001	0.0002	0.0018	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0003	0.0014	0.0002	0	0	0.0002	0	0.0023	0.029	0.49117	D	0.095	0.43159	T	0.175	0.28858	B	0.086	0.29521	B	0.000197	0.48115	N	0.181086	0.99918	0.46274	D	3.49	0.92661	M	-1.29	0.79475	T	-1.24	0.37759	N	0.426	0.46555	0.083	0.83862	D	0.524	0.82268	D	10	0.03969276	0.02479	T	0.052178	0.64964	D	0.587	0.83471	.	.	0.757679668421	0.75547	0.7402259738620808	0.73967	0.420632235292	0.42585	0.660517096519	0.61484	T	0.676627	0.90459	D	-0.270055	0.11751	T	-0.167168	0.57702	T	0.144324589906969	0.16642	T	.	.	.	0.13315296	0.30979	0.22140723	0.46950	0.13315296	0.30979	0.22140723	0.46949	-9.859	0.73063	D	.	.	0.273	0.51558	B	.;.	.;.	3.951165	0.57888	23.9	0.99534394668015191	0.70087	0.94656	0.61882	D	AEFGBI	0.335827	0.43414	N	0.173411533742735	0.49925	3.187688	0.215981455854735	0.50733	3.262325	0.0449646145576772	0.14633	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.79	0.31792	5.898000	0.69576	4.864000	0.45499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.1645:0.0:0.8355:0.0	11.959	0.52287	447	0.79583	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.02632	941.33	34	chr17	46875355	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.338;DP=708;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.433;SOR=1.091	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr17	46875363	46875363	C	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon3:c.C597G:p.I199M,WNT9B:NM_003396:exon3:c.C597G:p.I199M	.	.	.	.	.	.	.	.	.	.	.	3060952	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0319682600556	.	.	4.188e-05	0	0	0	0	7.304e-05	0	0	3.23e-05	5	154602	rs762405316	3.25e-05	3.215e-05	3.429e-05	3.068e-05	0.0002	2.505e-05	2.245e-05	2.768e-05	2.491e-05	0	2.276e-05	3.958e-05	0	0	0.0002	3.721e-05	5.03e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.137	0.28520	T	0.089	0.40426	T	0.689	0.41609	P	0.241	0.38645	B	0.000019	0.62929	N	0.149471	0.999961	0.52935	D	1.26	0.31868	L	-0.97	0.75670	T	-0.12	0.17624	N	0.388	0.42931	-0.6627	0.62157	T	0.249	0.61889	T	10	0.30080482	0.47626	T	0.031968	0.53918	D	0.215	0.50805	0.763	0.89133	0.750264353821	0.74800	0.5565367754235949	0.55580	0.863038074097	0.69047	0.619561910629	0.55668	T	0.430845	0.77917	T	-0.206474	0.19879	T	-0.345911	0.39673	T	0.077938475095964	0.09721	T	.	.	.	0.11567414	0.27292	0.12289851	0.29641	0.11567414	0.27292	0.12289851	0.29640	-7.46	0.57329	T	.	.	0.146	0.33846	B	.;.	.;.	2.487068	0.32083	18.93	0.99267213885543992	0.57423	0.87747	0.47392	D	AEFGBI	0.355404	0.44715	N	-0.254603998511002	0.30920	1.728702	-0.162938819422258	0.32914	1.877315	0.0111634617967663	0.12141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.85	0.32333	0.974000	0.29033	0.751000	0.21237	-0.273000	0.06669	1.000000	0.71638	0.999000	0.35428	0.963000	0.52385	0.1401:0.6497:0.1355:0.0746	5.834	0.17852	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1062.33	34	chr17	46875363	.	C	G	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=726;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-2.319;SOR=0.449	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr17	47345044	47345044	A	G	exonic	EFCAB13	.	nonsynonymous SNV	EFCAB13:NM_001195192:exon8:c.A463G:p.M155V,EFCAB13:NM_152347:exon8:c.A463G:p.M155V	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00912343073769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs946061135	2.062e-06	2.052e-06	2.735e-06	1.382e-06	2.539e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.539e-05	0	0	1.804e-06	0	0	3.286e-05	3.283e-05	1.285e-05	5.381e-05	9.647e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	1.471e-05	0	0	0.03	0.45393	D	0.13	0.34716	T	0.0	0.02946	B	0.0	0.01387	B	0.078808	0.02331	N	2.198750	1	0.08975	N	0.345	0.11182	N	1.52	0.65747	T	-0.22	0.10480	N	0.173	0.23253	-1.0140	0.25656	T	0.121	0.42208	T	10	0.03196186	0.01339	T	0.009123	0.23988	T	0.051	0.14325	0.277	0.23004	0.0401082797425	0.02173	0.052501821012742256	0.05192	0.142435112065	0.16065	0.256441056728	0.04476	T	0.003215	0.02616	T	-0.264305	0.12400	T	-0.617432	0.11388	T	0.0583767065857286	0.06910	T	0.451055	0.12757	T	0.1142969	0.26985	0.08328282	0.19073	0.1142969	0.26985	0.08328282	0.19073	-3.39	0.14922	T	.	.	0.097	0.16756	B	.;.;.	.;.;.	-0.385119	0.02269	0.235	0.75812948073801933	0.11221	0.00861	0.03425	N	AEFBI	0.030279	0.03017	N	-1.40253376554628	0.02616	0.1157903	-1.47985142084646	0.02510	0.1155456	2.54813084297217E-4	0.06190	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.05	-4.65	0.03100	-1.136000	0.03334	-1.657000	0.04973	-0.520000	0.04980	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.4071:0.2928:0.121:0.1791	1.409	0.02148	595	0.68488	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1685.33	34	chr17	47345044	.	A	G	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.211;DP=755;ExcessHet=0;FS=3.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.208;SOR=0.442	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr17	47440574	47440574	A	G	exonic	EFCAB13	.	nonsynonymous SNV	EFCAB13:NM_152347:exon25:c.A2782G:p.I928V	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00265870725607	.	0.000798722	0.0005	0	0	0	0	3.003e-05	0	0.0032	0.0003816	59	154602	rs572699475	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.239e-05	0	0	0	0.0009	2.609e-05	0.0002	0.0027	0.0001	0.0001	3.854e-05	0.0003	0.0033	9.738e-05	8.253e-05	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	5.882e-05	0.0005	0.0033	0.0	0.91255	D	0.752	0.04772	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.23	0.59717	T	-0.09	0.08340	N	0.053	0.02462	-1.0227	0.22834	T	0.081	0.32060	T	9	0.004668176	0.00098	T	0.002659	0.05434	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.012312227469506592	0.01190	0.122689276914	0.13825	0.456499218941	0.32832	T	6.76E-4	0.00299	T	-0.617069	0.00115	T	-0.663769	0.08013	T	0.012847552251289	0.00219	T	0.369163	0.08660	T	0.12406702	0.29119	0.1485945	0.35119	0.12406702	0.29119	0.1485945	0.35118	-3.978	0.23473	T	.	.	0.099	0.16843	B	.	.	-0.230063	0.02942	0.431	0.63505015083894512	0.07241	0.00909	0.03552	N	AEFGBI	0.021980	0.01043	N	-1.06075168785526	0.07378	0.3425639	-1.08473100410294	0.08000	0.3914915	3.90584394840453E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.69	0.573	0.16547	-0.421000	0.07118	-0.845000	0.07201	0.407000	0.20612	0.002000	0.15269	0.000000	0.08366	0.439000	0.27649	0.7704:0.0:0.2296:0.0	3.409	0.06924	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2076.33	35	chr17	47440574	.	A	G	2076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=758;ExcessHet=0;FS=3.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.911;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr17	47709136	47709136	G	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.G1403A:p.G468D	.	418	1102	2	0	0	2	0.000906618	.	.	.	2335028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	.	.	.	0.0015	0	0.0625	0	.	0.0052	0	0	0.0001876	29	154602	rs775256886	0.0006	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0	0.0006	5.543e-05	0	0.0033	0	0.0005	0.0007	0.0006	0.0010	0.0010	0.0010	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	7.239e-05	0	0.0003	0	0	0.0045	0	0.0014	0.0005	0.0006	0.049	0.39820	D	0.077	0.42436	T	0.963	0.55692	D	0.543	0.48966	P	0.011325	0.29573	N	0.270973	0.703	0.33441	D	1.1	0.28011	L	.	.	.	-1.34	0.33401	N	0.192	0.21056	-0.9736	0.36431	T	0.068	0.27743	T	9	0.0058056414	0.00130	T	.	.	.	0.239	0.54358	.	.	0.42264334713	0.41881	0.4413664330979873	0.44053	0.490862917705	0.47796	0.881544947624	0.94168	D	0.025936	0.19295	T	-0.383429	0.02964	T	-0.32691	0.41813	T	0.0356503401053711	0.02920	T	0.50325	0.15827	T	0.11147152	0.26341	0.13702852	0.32765	0.11147152	0.26341	0.13702852	0.32764	-4.267	0.27712	T	.	.	0.213	0.44201	B	.	.	3.236578	0.44165	21.9	0.9953256374132502	0.69963	0.75411	0.36921	D	AEFDBIJ	0.127172	0.24442	N	-0.00931878525804322	0.41433	2.478175	-0.0283002919643793	0.38443	2.264921	0.999856974192074	0.44174	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.491896	0.07777	0	.	.	3.32	3.32	0.37134	1.861000	0.39078	9.189000	0.79120	0.564000	0.28548	0.962000	0.33725	1.000000	0.68203	0.144000	0.20092	0.2452:0.0:0.7548:0.0	5.754	0.17428	414	0.81871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	964.83	34	chr17	47709136	.	G	A	964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.224;DP=584;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.846;SOR=0.624	GT:AD:DP:GQ:PL	0/1:18,16:34:99:388,0,445	17	0	2	0
chr17	47818326	47818326	G	A	exonic	OSBPL7	.	nonsynonymous SNV	OSBPL7:NM_145798:exon7:c.C541T:p.R181W	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0139297473546	0.0038	0.00139776	0.0037	0.0011	0.0032	0	0.0006	0.0054	0.0022	0.0024	0.0037386	578	154602	rs35767160	0.0049	0.0049	0.0049	0.0048	0.0066	0.0048	0.0047	0.0055	0.0055	0.0013	0.0035	0.0022	5.038e-05	0.0008	0.0066	0.0057	0.0045	0.0023	0.0037	0.0037	0.0040	0.0034	0.0059	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0048	0.0017	0	0.0014	0.0102	0.0059	0.0057	0.0014	0.002	0.72154	D	0.01	0.76473	D	0.995	0.67487	D	0.609	0.51053	P	0.142461	0.18243	N	0.581696	0.896804	0.36077	D	1.39	0.34934	L	2.22	0.18248	T	-0.08	0.08187	N	0.531	0.56662	-1.0804	0.07272	T	0.038	0.16376	T	10	0.006904006	0.00157	T	0.01393	0.33698	T	0.136	0.36778	.	.	0.539206206136	0.53571	.	.	0.79841149638	0.66131	0.402611881495	0.25433	T	0.033292	0.22852	T	-0.461007	0.00969	T	-0.433062	0.29587	T	0.0253166248869809	0.01314	T	0.905609	0.70480	D	0.092972144	0.21824	0.08232786	0.18780	0.092972144	0.21824	0.08232786	0.18779	-6.223	0.48109	T	.	.	0.112	0.25100	B	.;.;.	.;.;.	4.009767	0.59140	24.1	0.95042371118992897	0.26050	0.96615	0.70031	D	AEFDBI	0.404074	0.47750	N	0.157886941879648	0.49186	3.121817	0.187488168569878	0.49160	3.122643	0.994836958884407	0.33823	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.97	5.0	0.66209	1.849000	0.38958	6.631000	0.56152	-0.126000	0.13398	0.991000	0.37257	1.000000	0.68203	0.494000	0.28882	0.0:0.0:0.848:0.152	13.970	0.63743	336	0.86165	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.008152	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	1140.33	35	chr17	47818326	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=738;ExcessHet=0;FS=2.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.157;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	18	0	1	0
chr17	47828644	47828644	G	A	exonic	MRPL10	.	nonsynonymous SNV	MRPL10:NM_145255:exon2:c.C79T:p.R27C,MRPL10:NM_148887:exon3:c.C109T:p.R37C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.146598211896	.	.	2.506e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs746020597	6.85e-05	7.319e-05	4.914e-05	8.819e-05	0.0005	5.711e-05	5.301e-05	0.0004	0.0003	0	0	0	0	0	0	5.379e-05	1.763e-05	0.0005	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0004	0.062	0.39097	T	0.071	0.45744	T	0.971	0.57185	D	0.281	0.40336	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.39	0.80387	T	-5.26	0.84105	D	0.627	0.65159	-0.0927	0.80266	T	0.408	0.75699	T	10	0.800899	0.79494	D	0.146598	0.82870	D	0.442	0.74518	0.767	0.89452	0.872131129049	0.87088	0.6389873464298993	0.63832	0.175973448072	0.19809	0.536172866821	0.43906	T	0.194371	0.55013	T	0.17518	0.71599	D	0.308693	0.88594	D	0.834848701953888	0.48912	D	0.908809	0.67839	D	0.3783662	0.59198	0.30990994	0.57003	0.3783662	0.59198	0.30990994	0.57003	-6.527	0.50494	T	.	.	0.221	0.45124	B	.;.;.	.;.;.	4.557499	0.71787	25.7	0.99900258012492571	0.97199	0.99446	0.96131	D	AEFBI	0.873640	0.79611	D	0.513591654005275	0.67891	5.14287	0.566640986445052	0.72562	5.82958	0.999999999821107	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.219000	0.77491	8.528000	0.77447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	17.767	0.88390	330	0.86467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	806.33	43	chr17	47828644	.	G	A	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=767;ExcessHet=0;FS=2.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.93;SOR=0.985	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr17	47831999	47831999	-	GT	exonic	LRRC46	.	frameshift insertion	LRRC46:NM_033413:exon1:c.10_11insGT:p.K5Gfs*24	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0006	0	0	0.0044	0	0.0004	0.0011	0.0003	0.0004981	77	154602	rs536101939	0.0004	0.0004	0.0004	0.0004	0.0047	0.0004	0.0004	0.0042	0.0040	2.988e-05	6.708e-05	0.0072	0.0047	0	0.0007	9.622e-05	0.0007	0.0004	0.0003	0.0003	0.0003	0.0004	0.0042	0.0003	0.0002	0.0029	0.0024	0	0	0	0.0063	0.0042	0	0	4.41e-05	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	515.29	39	chr17	47831999	.	G	GGT	515.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.266;DP=696;ExcessHet=0;FS=2.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.394;SOR=0.357	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	18	0	1	0
chr17	47847364	47847364	C	T	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.G1066A:p.A356T,SP6:NM_199262:exon2:c.G1066A:p.A356T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00899772677431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454437114	6.874e-07	1.368e-06	0	1.383e-06	1.168e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.589	0.08245	T	0.942	0.52977	P	0.094	0.30180	B	0.115317	0.19239	N	0.372399	1	0.08975	N	0	0.06538	N	3.11	0.08194	T	0.24	0.04533	N	0.063	0.03613	-0.9395	0.42695	T	0.007	0.02399	T	10	0.07872808	0.12583	T	0.008998	0.23702	T	0.070	0.20419	0.193	0.10437	0.423836183345	0.42003	0.19092959522825945	0.19010	0.750607852197	0.63758	0.516041755676	0.41069	T	0.063193	0.32111	T	-0.505493	0.00532	T	-0.781114	0.02420	T	0.0533205750421684	0.06074	T	0.368163	0.08622	T	0.040068015	0.05651	0.06865189	0.14364	0.040068015	0.05650	0.06865189	0.14364	-5.016	0.37013	T	.	.	0.083	0.10594	B	.;.	.;.	1.498676	0.19271	14.18	0.836184785408433	0.14825	0.15045	0.18716	N	AEFDBHCIJ	0.079218	0.15997	N	-0.970156266006753	0.09245	0.4367763	-1.01250616965944	0.09510	0.4735362	0.99995551447007	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	4.4	2.42	0.28720	0.206000	0.17174	2.168000	0.31032	-0.191000	0.09375	0.001000	0.13787	0.997000	0.33255	0.053000	0.15439	0.0:0.7847:0.0:0.2153	6.721	0.22521	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	34	chr17	47847364	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=0.233;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1003	18	0	1	0
chr17	47848309	47848309	C	T	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.G121A:p.G41R,SP6:NM_199262:exon2:c.G121A:p.G41R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0224931432112	.	.	1.109e-05	0	0	0	0	0	0	7.24e-05	6.5e-06	1	154602	rs780881543	1.302e-05	1.3e-05	1.091e-05	1.515e-05	0.0002	8.33e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.325e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.012	0.63918	D	0.29	0.32311	B	0.051	0.25434	B	0.000443	0.44317	D	0.000000	0.647544	0.32933	D	0.55	0.14455	N	2.99	0.09262	T	-2.15	0.48687	N	0.179	0.19325	-1.0097	0.27012	T	0.015	0.05849	T	10	0.08911851	0.15409	T	0.022493	0.45384	T	0.178	0.44724	0.092	0.01108	0.407901774203	0.40404	0.26820965232186667	0.26733	2.01184860429	0.93918	0.814235806465	0.84143	D	0.212142	0.57310	T	-0.0770696	0.40189	T	-0.111813	0.62467	T	0.659163475036621	0.38859	D	0.733627	0.34942	T	0.22244808	0.44844	0.54185677	0.73521	0.22244808	0.44844	0.54185677	0.73522	-4.415	0.29759	T	.	.	0.313	0.54004	B	.;.	.;.	5.000748	0.82969	27.9	0.99809649626080621	0.89353	0.62982	0.31948	D	AEFDBCI	0.125209	0.24161	N	-0.181597209101038	0.33901	1.928709	-0.00652089735995265	0.39420	2.336992	0.999918700928394	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	-0.424000	0.07093	7.614000	0.62028	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.994000	0.71098	0.0:0.8238:0.1762:0.0	11.943	0.52196	324	0.86790	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	38	chr17	47848309	.	C	T	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.131;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1198	18	0	1	0
chr17	47944659	47944659	G	A	exonic	PNPO	.	nonsynonymous SNV	PNPO:NM_018129:exon3:c.G307A:p.G103R	Pyridoxamine 5'-phosphate oxidase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203478	not_provided|Pyridoxal_phosphate-responsive_seizures	MedGen:C3661900|MONDO:MONDO:0012407,MedGen:C1864723,OMIM:610090,Orphanet:79096	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.15179085555	.	.	4.119e-05	9.614e-05	0	0	0	4.496e-05	0	6.058e-05	3.23e-05	5	154602	rs781657980	3.42e-05	3.42e-05	4.22e-05	2.613e-05	4.047e-05	2.631e-05	2.375e-05	3.085e-05	2.753e-05	2.987e-05	0	0	0	0	0	4.047e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.012	0.56456	D	0.047	0.52060	D	0.996	0.68779	D	0.842	0.60272	P	0.000006	0.62929	D	0.144297	0.997874	0.44275	D	2.22	0.62911	M	-0.77	0.76168	T	-4.26	0.80085	D	0.388	0.49146	0.180	0.85577	D	0.572	0.84512	D	10	0.7498121	0.75554	D	0.151791	0.83330	D	0.598	0.84074	0.687	0.82462	0.88106158449	0.87989	0.5570778255966239	0.55634	1.3560724668	0.84186	0.487429738045	0.37083	T	0.10372	0.71370	T	-0.111219	0.34567	T	-0.205852	0.54091	T	0.852330982685089	0.50367	D	0.987901	0.96026	D	0.76399416	0.81689	0.6533199	0.79709	0.76399416	0.81691	0.6533199	0.79709	-7.309	0.62283	T	0.4186923940849868	0.50780	0.451	0.62484	A	.;.;.;.;.	.;.;.;.;.	4.392070	0.67793	25.1	0.9991739149074319	0.98518	0.84396	0.43478	D	AEFBI	0.490391	0.52789	N	0.544543893827985	0.69751	5.401562	0.483163925357307	0.66875	5.009293	0.99998878334009	0.51787	0.706548	0.73137	0	0.658105	0.61773	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	4.25	0.49658	3.117000	0.50099	6.550000	0.55908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1698:0.0:0.8302:0.0	9.629	0.38930	523	0.74147	Pyridoxamine 5'-phosphate oxidase, putative;Pyridoxamine 5'-phosphate oxidase, putative;.;.;Pyridoxamine 5'-phosphate oxidase, putative	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	962.33	33	chr17	47944659	.	G	A	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=676;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=-2.022;SOR=0.509	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	47974009	47974009	G	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278197:exon4:c.G338T:p.R113L,CDK5RAP3:NM_176096:exon4:c.G263T:p.R88L	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	.	0.0105831	0.0050	0.0002	0.0003	0	0	5.995e-05	0.0044	0.0360	0.0044631	690	154602	rs201973580	0.0021	0.0021	0.0012	0.0031	0.0339	0.0021	0.0020	0.0328	0.0324	0.0001	2.236e-05	0	2.519e-05	0	0.0021	2.519e-05	0.0021	0.0339	0.0013	0.0013	0.0007	0.0020	0.0414	0.0012	0.0011	0.0367	0.0349	7.215e-05	0	0	0	0	0	0	0	0	0.0414	0.004	0.65419	D	0.167	0.30729	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.335	0.90898	M	0.76	0.49919	T	-5.21	0.83763	D	0.919	0.92317	-0.3884	0.72392	T	0.332	0.69927	T	10	0.014095038	0.00297	T	.	.	.	0.536	0.80545	.	.	0.824481828275	0.82282	0.555698876831675	0.55496	0.533885050813	0.50818	0.693994045258	0.66279	T	0.148647	0.48729	T	-0.0271763	0.47826	T	0.213949	0.83868	D	0.182294480565301	0.19379	T	0.961004	0.92360	D	0.604937	0.72956	0.45090437	0.68049	0.604937	0.72957	0.45090437	0.68049	-6.093	0.51372	T	.	.	0.696	0.73696	P	.;.;.;.;.	.;.;.;.;.	5.428779	0.90793	31	0.99851110760734285	0.93013	0.99310	0.94309	D	AEFDBI	0.920314	0.89212	D	0.796813600121588	0.85907	8.718294	0.725394114312064	0.84305	8.255621	0.99999999227298	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.56	0.55644	9.389000	0.96610	9.923000	0.82520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0786:0.0:0.9214:0.0	13.141	0.58851	706	0.57215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.02632	883.33	33	chr17	47974009	.	G	T	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.503;DP=713;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.884;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	47980707	47980707	A	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278198:exon10:c.A517T:p.M173L,CDK5RAP3:NM_001278216:exon10:c.A517T:p.M173L,CDK5RAP3:NM_001278217:exon11:c.A931T:p.M311L,CDK5RAP3:NM_001278197:exon12:c.A1267T:p.M423L,CDK5RAP3:NM_176096:exon12:c.A1192T:p.M398L	.	.	.	.	.	.	.	.	.	.	.	2376867	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00612336454792	8e-05	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs376202323	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0007	2.062e-05	1.816e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	2.878e-05	4.967e-05	0	4.6e-05	4.597e-05	3.854e-05	5.381e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.711	0.06106	T	0.709	0.05544	T	0.0	0.02946	B	0.003	0.08700	B	0.000065	0.52346	D	0.163844	0.890769	0.35947	D	-0.28	0.03718	N	1.33	0.35031	T	0.46	0.03140	N	0.197	0.21710	-1.0267	0.21527	T	0.030	0.13067	T	10	0.08244833	0.13609	T	0.006123	0.16023	T	0.086	0.25016	0.405	0.43738	0.412587454835	0.40873	0.2603622007908815	0.25949	0.17368640445	0.19556	0.41576051712	0.27252	T	0.00465	0.04060	T	-0.297908	0.08858	T	-0.509335	0.21383	T	0.319871693849564	0.25817	T	0.723828	0.33737	T	0.050756607	0.09218	0.05496916	0.09554	0.050756607	0.09217	0.05496916	0.09554	-1.793	0.02488	T	.	.	0.146	0.32202	B	.;.	.;.	2.658868	0.34638	19.68	0.87641879446451765	0.17375	0.90164	0.51127	D	AEFDBHIJ	0.492170	0.52892	N	-0.36391223706334	0.26763	1.463187	-0.118966919833321	0.34625	1.993884	0.999332502954542	0.39185	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.37	0.51830	1.812000	0.38590	2.657000	0.33854	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.5507:0.0:0.2084:0.2408	1.970	0.03197	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2744.33	38	chr17	47980707	.	A	T	2744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.668;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T,SNX11:NM_013323:exon7:c.C661A:p.P221T,SNX11:NM_152244:exon8:c.C661A:p.P221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	37	chr17	48121356	.	C	A	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.254;DP=828;ExcessHet=0;FS=55.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=2.61;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1304:.	18	0	1	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H,SNX11:NM_013323:exon7:c.C662A:p.P221H,SNX11:NM_152244:exon8:c.C662A:p.P221H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	37	chr17	48121357	.	C	A	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=829;ExcessHet=0;FS=55.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=2.58;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1304:.	18	0	1	0
chr17	48592351	48592351	C	T	exonic	HOXB5	.	nonsynonymous SNV	HOXB5:NM_002147:exon2:c.G668A:p.R223Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.392055766658	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765156260	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.27	0.32069	L	-3.8	0.95696	D	-3.51	0.68298	D	0.694	0.69913	0.896	0.95623	D	0.893	0.96452	D	9	0.90482664	0.89847	D	0.392056	0.93210	D	0.804	0.93621	0.747	0.87821	0.999905143127	0.99990	0.8282885994590793	0.82786	1.98777310785	0.93715	0.93256020546	0.99126	D	0.843521	0.96372	D	0.352755	0.86693	D	0.268931	0.86518	D	0.9942347407341	0.85407	D	0.969903	0.89155	D	0.82315564	0.85434	0.7477218	0.85088	0.82315564	0.85435	0.7477218	0.85089	-13.693	0.92016	D	.	.	0.996	0.95940	P	.	.	5.943359	0.94139	33	0.99916510289710536	0.98449	0.92912	0.56853	D	ALL	0.968013	0.99049	D	0.688152421261408	0.78857	6.956595	0.698878017986825	0.82293	7.731338	1.0	0.98316	0.562547	0.31514	0	0.541168	0.11318	0	0.616487	0.41570	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	6.143000	0.71516	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.241	0.93871	689	0.59000	Homeobox domain|Homeobox domain, metazoa|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2834.33	33	chr17	48592351	.	C	T	2834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.305;DP=858;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=2.12;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	18	0	1	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del,IGF2BP1:NM_006546:exon15:c.1710_1715del:p.Q573_A574del	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1487.29	34	chr17	49049419	.	ACCAGGC	A	1487.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=707;ExcessHet=0;FS=4.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=-0.377;SOR=1.239	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	49142117	49142117	G	A	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon3:c.G298A:p.D100N,B4GALNT2:NM_001159388:exon3:c.G220A:p.D74N,B4GALNT2:NM_153446:exon3:c.G478A:p.D160N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00911175930291	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs764997159	1.026e-05	1.026e-05	1.089e-05	9.625e-06	2.519e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	0	0	1.169e-05	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.63226	D	0.317	0.41074	T	0.907	0.58310	P	0.313	0.47925	B	0.212708	0.16326	N	0.578312	0.98186	0.25008	N	2.375	0.68372	M	1.43	0.32958	T	-2.1	0.47852	N	0.341	0.38438	-1.0790	0.07543	T	0.059	0.24871	T	10	0.2503023	0.42354	T	0.009112	0.23965	T	0.055	0.15663	0.314	0.28935	0.642214447545	0.63926	0.5289889502045728	0.52822	0.549580526325	0.51857	0.374504476786	0.21476	T	0.123101	0.44724	T	-0.20049	0.20734	T	-0.525767	0.19711	T	0.897660255432129	0.54960	D	0.814119	0.46793	T	0.07052155	0.15541	0.07755017	0.17287	0.07052155	0.15541	0.07755017	0.17286	-3.662	0.20000	T	.	.	0.097	0.25100	B	.;.;.	.;.;.	3.184594	0.43240	21.7	0.9979913223624155	0.88372	0.67094	0.33308	D	AEFDBI	0.174400	0.30153	N	-0.0169887660437002	0.41088	2.451388	-0.0337487926016838	0.38200	2.247307	1.25788478085327E-4	0.05386	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.7	3.67	0.41236	2.935000	0.48657	8.079000	0.76473	0.676000	0.76740	0.940000	0.32642	1.000000	0.68203	0.469000	0.28319	0.0887:0.168:0.7432:0.0	7.500	0.26683	350	0.85473	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1297.33	36	chr17	49142117	.	G	A	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=734;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.411;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	18	0	1	0
chr17	49168877	49168877	G	A	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon10:c.G1292A:p.R431H,B4GALNT2:NM_001159388:exon10:c.G1214A:p.R405H,B4GALNT2:NM_153446:exon10:c.G1472A:p.R491H	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00373812041636	0.0028	0.00219649	0.0012	0.0065	0.0011	0	0	0.0011	0.0012	0	0.0010737	166	154602	rs141826857	0.0006	0.0006	0.0006	0.0006	0.0069	0.0006	0.0006	0.0062	0.0059	0.0069	0.0007	0.0137	2.52e-05	0	0.0030	0.0002	0.0015	0.0001	0.0022	0.0022	0.0021	0.0024	0.0065	0.0020	0.0020	0.0059	0.0056	0.0065	0	0.0005	0.0101	0	0	0.0034	0.0003	0.0009	0.0004	0.032	0.46513	D	0.119	0.40586	T	0.986	0.67487	D	0.676	0.54822	P	0.457068	0.12436	N	0.753467	0.964309	0.25987	N	2.3	0.65703	M	1.96	0.22270	T	-2.78	0.58896	D	0.274	0.31027	-1.0713	0.09129	T	0.037	0.16073	T	10	0.011550486	0.00252	T	0.003738	0.08682	T	0.066	0.19193	.	.	0.535054060289	0.53155	0.4895613630823299	0.48876	0.259319413095	0.28491	0.5434705019	0.44936	T	0.331769	0.70181	T	-0.492297	0.00631	T	-0.473812	0.25107	T	0.0529895753541264	0.06018	T	0.921108	0.72230	D	0.09397613	0.22083	0.10413913	0.25004	0.09397613	0.22083	0.10413913	0.25003	-3.784	0.23158	T	.	.	0.092	0.17103	B	.;.;.	.;.;.	3.777095	0.54290	23.5	0.99932813617727068	0.99439	0.39916	0.26320	N	AEFDBI	0.202478	0.32906	N	0.0391936763909008	0.43648	2.653529	-0.00926384725989188	0.39296	2.327702	4.261447454116E-5	0.03989	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.28	2.09	0.26154	1.332000	0.33410	1.863000	0.29335	0.676000	0.76740	0.016000	0.19238	0.010000	0.20010	0.999000	0.91618	0.2743:0.0:0.5249:0.2008	3.260	0.06441	461	0.78683	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	991.33	34	chr17	49168877	.	G	A	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=711;ExcessHet=0;FS=10.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.431;SOR=1.981	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	18	0	1	0
chr17	49210771	49210771	G	A	exonic	ABI3	.	nonsynonymous SNV	ABI3:NM_001135186:exon1:c.G47A:p.R16Q,ABI3:NM_016428:exon1:c.G47A:p.R16Q	.	.	.	.	.	.	.	.	.	.	.	2222922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0744979282597	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747109470	1.782e-05	2.805e-05	1.829e-05	1.733e-05	8.325e-05	1.223e-05	1.034e-05	2.206e-05	1.111e-05	6.291e-05	2.756e-05	0	8.325e-05	0	0	1.48e-05	0	3.773e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	6.544e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.741	0.46109	P	0.026	0.26451	B	0.008888	0.30616	N	0.207025	0.999967	0.52935	D	2.585	0.75554	M	-2.98	0.92057	D	-2.74	0.58248	D	0.146	0.14763	0.410	0.89246	D	0.633	0.87139	D	10	0.2204113	0.38737	T	0.074498	0.72057	D	0.453	0.75279	0.498	0.58835	0.875284708608	0.87406	0.5357854514694561	0.53503	0.127775830488	0.14408	0.470355451107	0.34729	T	0.325873	0.69655	T	0.0776609	0.61764	D	-0.126222	0.61288	T	0.982767760753632	0.74689	D	0.963104	0.86259	D	0.4828945	0.66075	0.5715368	0.75187	0.4828945	0.66076	0.5715368	0.75188	-9.627	0.71647	D	.	.	0.116	0.23395	B	.;.	.;.	4.248424	0.64464	24.7	0.99943799392366062	0.99868	0.66463	0.33087	D	ALL	0.365252	0.45350	N	0.225149524908998	0.52421	3.41631	0.248769034326152	0.52579	3.431882	0.999999999988704	0.74766	0.205752	0.04085	2	0.52208	0.09955	0	0.459711	0.06710	0	0.56214	0.19341	0	.	.	4.62	3.61	0.40494	1.091000	0.30526	6.316000	0.55437	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.736000	0.35301	0.0879:0.0:0.9121:0.0	12.215	0.53711	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	33	chr17	49210771	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.022;DP=715;ExcessHet=0;FS=4.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.83;SOR=0.574	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,973	18	0	1	0
chr17	49217800	49217800	A	G	exonic	ABI3	.	nonsynonymous SNV	ABI3:NM_001135186:exon3:c.A329G:p.Q110R,ABI3:NM_016428:exon3:c.A347G:p.Q116R	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00453559977852	0.0008	0.000599042	0.0012	0.0003	0.0005	0	0.0003	0.0015	0.0033	0.0019	0.0010996	170	154602	rs142527437	0.0014	0.0014	0.0014	0.0015	0.0020	0.0014	0.0013	0.0018	0.0017	0.0002	0.0004	0.0002	0	0.0004	0.0016	0.0016	0.0012	0.0020	0.0008	0.0008	0.0009	0.0008	0.0015	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0	0	0.0003	0	0.0015	0	0.0014	0.012	0.54683	D	0.097	0.40426	T	0.101	0.25775	B	0.138	0.33406	B	0.115946	0.19213	N	0.436137	0.616885	0.32671	D	0.695	0.17993	N	3.02	0.08986	T	0.12	0.05604	N	0.233	0.26717	-1.0450	0.15825	T	0.017	0.07045	T	10	0.011310279	0.00248	T	0.004536	0.11157	T	0.061	0.17616	.	.	0.346315397577	0.34243	0.13968753467718617	0.13891	0.05900156882	0.06553	0.376348644495	0.21738	T	0.052198	0.29093	T	-0.519646	0.00442	T	-0.524138	0.19876	T	0.0255160735672477	0.01340	T	0.567243	0.20104	T	0.044850662	0.07242	0.054977734	0.09558	0.044850662	0.07242	0.054977734	0.09557	-7.574	0.58129	D	.	.	0.081	0.08368	B	.;.	.;.	2.044265	0.25985	16.96	0.98958881482081007	0.49285	0.94584	0.61642	D	AEFDGBCI	0.707635	0.66230	D	-0.235861170875588	0.31671	1.778277	-0.0892259490499853	0.35835	2.077924	0.999999992163253	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.92	3.82	0.43153	4.442000	0.59730	5.783000	0.49817	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.8326:0.0:0.0:0.1674	9.206	0.36451	678	0.60190	Abl-interactor, homeo-domain homologous domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1063.33	33	chr17	49217800	.	A	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=721;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.41;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1102	18	0	1	0
chr17	49711281	49711281	G	A	exonic	FAM117A	.	nonsynonymous SNV	FAM117A:NM_030802:exon8:c.C1336T:p.L446F	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00512514840755	.	.	3.506e-05	0	8.741e-05	0	0	0	0	0.0002	5.17e-05	8	154602	rs768720119	1.099e-05	1.231e-05	8.19e-06	1.382e-05	0.0002	6.51e-06	5.26e-06	3.007e-05	2.045e-05	0	4.508e-05	0	0	0	0.0002	5.412e-06	1.666e-05	6.99e-05	1.314e-05	1.313e-05	0	2.689e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.006	0.61437	D	0.131	0.34716	T	0.99	0.63424	D	0.901	0.63994	P	0.021226	0.26875	N	0.181868	0.812893	0.34666	D	0.55	0.14455	N	.	.	.	-1.2	0.30555	N	0.356	0.43320	-0.8380	0.52780	T	0.101	0.37392	T	9	0.153775	0.29019	T	0.005125	0.13001	T	0.107	0.30369	0.099	0.01433	0.0482279557977	0.04254	0.28957939212064926	0.28870	1.05480476206	0.76289	0.613666892052	0.54834	T	0.044822	0.26933	T	-0.205638	0.19996	T	-0.296492	0.45094	T	0.291990607976913	0.24672	T	0.730727	0.34650	T	0.08952903	0.20922	0.09151522	0.21519	0.08952903	0.20922	0.09151522	0.21518	-4.612	0.32322	T	.	.	0.100	0.27373	B	.;.	.;.	3.623186	0.51284	23.1	0.99863370617303093	0.94184	0.85221	0.44335	D	AEFDBI	0.362204	0.45155	N	0.29081338621149	0.55682	3.732267	0.32799486899558	0.57191	3.884007	0.078816272232719	0.15799	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.12	4.15	0.47978	1.532000	0.35634	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0843:0.1557:0.76:0.0	8.439	0.31967	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.33	33	chr17	49711281	.	G	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.716;DP=703;ExcessHet=0;FS=5.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.003;SOR=0.295	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr17	50076612	50076614	ACA	-	exonic	ITGA3	.	nonframeshift deletion	ITGA3:NM_002204:exon14:c.1853_1855del:p.N619del	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.718e-05	0	0	0	0	0.0013	0.0001423	22	154602	rs748334676	6.569e-05	6.635e-05	2.587e-05	0.0001	0.0011	5.497e-05	5.109e-05	0.0009	0.0008	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0011	3.286e-05	3.283e-05	2.57e-05	4.035e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2052.29	41	chr17	50076611	.	GACA	G	2052.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=816;ExcessHet=0;FS=5.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.026;SOR=1.064	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr17	50097448	50097448	-	GGGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGGG:p.S49Gfs*19,PDK2:NM_002611:exon2:c.144_145insGGGGG:p.S49Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	377.15	33	chr17	50097448	.	C	CGGGGG	377.15	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.607;DP=2043;ExcessHet=0.119;FS=71.956;InbreedingCoeff=-0.1692;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.76;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,20:189:99:.:.:298,0,6762:.	11	0	1	7
chr17	50097448	50097448	-	GGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGG:p.S49Gfs*67,PDK2:NM_002611:exon2:c.144_145insGGGG:p.S49Gfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	377.15	33	chr17	50097448	.	C	CGGGG	377.15	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.607;DP=2043;ExcessHet=0.119;FS=71.956;InbreedingCoeff=-0.1692;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.76;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:168,0:189:99:.:.:298,684,7561:.	11	0	1	7
chr17	50167584	50167584	G	A	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon3:c.G160A:p.V54I,SGCA:NM_001135697:exon3:c.G160A:p.V54I	Muscular dystrophy, limb-girdle, type 2D, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1199843	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2D	MONDO:MONDO:0011968,MedGen:C2936332,OMIM:608099,Orphanet:62	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.061645376259	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485826147	1.369e-06	1.368e-06	0	2.751e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20230	T	0.442	0.13252	T	0.046	0.21875	B	0.023	0.19966	B	0.356534	0.04277	N	1.395440	1	0.08975	N	0.805	0.20218	L	-4.45	0.97538	D	-0.17	0.09965	N	0.105	0.08925	0.126	0.84646	D	0.811	0.93607	D	10	0.1067574	0.19798	T	0.061645	0.68398	D	0.145	0.38592	0.382	0.39970	0.875241314499	0.87402	0.4482029116759175	0.44738	0.277942661672	0.30273	0.369259059429	0.20725	T	0.570016	0.85747	D	-0.0655601	0.42033	T	-0.331949	0.41251	T	0.041498090536587	0.03963	T	0.613939	0.23413	T	0.033268895	0.03511	0.039419584	0.04030	0.033268895	0.03511	0.039419584	0.04030	-5.966	0.45994	T	0.13272159753065002	0.14176	0.087	0.11027	B	.;.	.;.	0.807377	0.11783	8.355	0.82181393638598299	0.14060	0.06065	0.12037	N	AEFBI	0.324343	0.42626	N	-0.950451593179536	0.09683	0.4593166	-1.01301253992451	0.09498	0.4729119	0.999591654652535	0.40745	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.53	-0.318	0.12098	0.003000	0.12984	2.646000	0.33784	0.676000	0.76740	0.000000	0.06391	0.193000	0.23512	0.128000	0.19490	0.176:0.3981:0.4259:0.0	7.697	0.27764	887	0.27948	Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3347.33	268	chr17	50167584	.	G	A	3347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=903;ExcessHet=0;FS=0.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.907;SOR=0.615	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1452	18	0	1	0
chr17	50197978	50197978	G	C	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon8:c.C613G:p.P205A	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	YES	215539	Ehlers-Danlos_syndrome,_arthrochalasia_type|Osteogenesis_imperfecta|Infantile_cortical_hyperostosis|Osteogenesis_imperfecta_type_I|Connective_tissue_disorder|not_specified|Cardiovascular_phenotype|not_provided|Ehlers-Danlos_syndrome	MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.602	0.0403897260851	0.0041	0.00179712	0.0036	0.0014	0.0006	0	0.0021	0.0050	0.0011	0.0040	0.0035122	543	154602	rs72667032	0.0051	0.0051	0.0051	0.0051	0.0059	0.0050	0.0050	0.0058	0.0058	0.0008	0.0008	0.0027	0	0.0021	0.0024	0.0059	0.0046	0.0045	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0045	0.0043	0.0013	0.0208	0.0013	0.0037	0.0002	0.0035	0	0.0050	0.0024	0.0048	0.236	0.17940	T	0.092	0.39954	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999859	0.49910	D	.	.	.	-4.05	0.96496	D	-3.99	0.73893	D	0.753	0.75192	0.429	0.89525	D	0.755	0.91641	D	10	0.026518553	0.00816	T	0.04039	0.59348	D	0.602	0.84291	.	.	0.959868584311	0.95944	0.5582512967563458	0.55752	0.544322101214	0.51483	0.65260720253	0.60356	T	.	.	.	-0.0113856	0.50071	T	0.212788	0.83808	D	0.0795630267393425	0.09930	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00011	B	.	.	2.829041	0.37287	20.5	0.93909509931218083	0.23944	0.92327	0.55456	D	AEFBCI	0.712180	0.66538	D	-0.0641915890927482	0.38971	2.291	0.0523499452591589	0.42186	2.547244	0.999999985969376	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.620976	0.48614	0	.	.	4.38	3.37	0.37692	6.404000	0.73190	6.596000	0.56041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1599:0.8401:0.0	13.371	0.60157	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	955.33	34	chr17	50197978	.	G	C	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.965;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.807;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1119	18	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K,EME1:NM_152463:exon2:c.T567A:p.N189K	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.012228	0.002924	0.000000	0.008621	0.021341	0.015152	0.02632	2713.33	41	chr17	50375775	.	T	A	2713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.284;DP=935;ExcessHet=0;FS=5.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.762;SOR=1.064	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	50471058	50471058	G	A	exonic	ACSF2	.	nonsynonymous SNV	ACSF2:NM_001288971:exon9:c.G766A:p.V256M,ACSF2:NM_001288970:exon10:c.G1117A:p.V373M,ACSF2:NM_001288969:exon11:c.G1207A:p.V403M,ACSF2:NM_001288972:exon11:c.G766A:p.V256M,ACSF2:NM_025149:exon11:c.G1246A:p.V416M,ACSF2:NM_001288968:exon12:c.G1321A:p.V441M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0756986182997	0.0017	0.000399361	0.0019	0	8.64e-05	0	0.0011	0.0032	0	0.0006	0.0017205	266	154602	rs142467151	0.0015	0.0015	0.0015	0.0015	0.0013	0.0015	0.0015	0.0013	0.0012	0.0001	0.0001	0.0204	0	0.0010	0.0009	0.0013	0.0019	0.0006	0.0013	0.0013	0.0013	0.0013	0.0015	0.0012	0.0011	0.0013	0.0012	0.0002	0	6.544e-05	0.0196	0	0.0012	0	0.0015	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.992	0.64738	D	0.883	0.62698	P	0.000009	0.62929	D	0.064439	0.999999	0.58761	D	3.135	0.88152	M	0.88	0.46028	T	-2.62	0.56301	D	0.693	0.69825	-0.1828	0.78110	T	0.311	0.68175	T	10	0.014143795	0.00298	T	0.075699	0.72352	D	0.313	0.63482	.	.	0.696278389146	0.69365	0.7463861982506215	0.74584	1.1523092919	0.79246	0.547987759113	0.45574	T	0.302089	0.67451	T	-0.317451	0.07109	T	-0.236037	0.51185	T	0.0834510224038088	0.10423	T	0.984502	0.94722	D	0.47811276	0.65786	0.43940592	0.67294	0.47811276	0.65786	0.43940592	0.67294	-8.496	0.64403	D	.	.	0.347	0.57640	A	.;.;.;.	.;.;.;.	5.226896	0.87732	29.3	0.99872045131611176	0.94989	0.95827	0.66323	D	AEFDBI	0.710022	0.66392	D	0.630885305431587	0.75136	6.253	0.509179107953124	0.68605	5.243327	0.99999770396574	0.74766	0.740716	0.97744	0	0.670034	0.63936	0	0.723109	0.80598	0	0.526665	0.08891	0	.	.	4.67	4.67	0.58089	5.606000	0.67324	9.843000	0.81937	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.674000	0.33367	0.0:0.0:1.0:0.0	15.772	0.77951	894	0.26265	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3582.33	33	chr17	50471058	.	G	A	3582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=901;ExcessHet=0;FS=5.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.537;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1373	18	0	1	0
chr17	50483483	50483483	G	T	exonic	RSAD1	.	stopgain	RSAD1:NM_018346:exon6:c.G1048T:p.E350X	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.119922	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.217	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.238718	0.99651	46	0.99697279870383804	0.80385	0.97177	0.73143	D	AEFDBCI	0.322729	0.42514	N	1.12346570075575	0.98545	18.59007	0.946635540588693	0.97302	15.90435	0.999999999998195	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.19	5.19	0.71428	8.813000	0.91586	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	18.656	0.91411	897	0.25382	HemN, C-terminal|Radical SAM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1029.33	34	chr17	50483483	.	G	T	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.268;DP=692;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.071;SOR=0.818	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1043,0,655	18	0	1	0
chr17	50528757	50528757	C	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon17:c.C2515T:p.R839W,MYCBPAP:NM_032133:exon17:c.C2470T:p.R824W	.	420	1098	3	1	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0174389190974	7.7e-05	0.00159744	0.0006	0	0	0.0018	0	0.0001	0	0.0034	0.0005498	85	154602	rs141898450	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0003	0.0026	0.0024	2.987e-05	0	0	0.0030	0	0.0010	3.417e-05	0.0003	0.0028	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0001	0.0018	0.0014	2.41e-05	0	6.542e-05	0	0.0029	0	0	7.355e-05	0	0.0023	0.003	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	0.027220	0.25793	N	0.320160	1	0.08975	N	.	.	.	1.69	0.27032	T	-4.3	0.76496	D	0.434	0.47301	-1.0166	0.24819	T	0.105	0.38464	T	10	0.0046901405	0.00099	T	0.017439	0.39139	T	0.053	0.14996	.	.	0.27132560031	0.26736	.	.	0.659869438374	0.58832	0.389642298222	0.23620	T	.	.	.	-0.448419	0.01154	T	-0.418372	0.31261	T	0.145517487405955	0.16741	T	0.916508	0.70155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.45211	B	.;.	.;.	4.416941	0.68379	25.2	0.99851839329604841	0.93102	0.34323	0.25040	N	AEFDBI	0.323944	0.42599	N	0.138915652453854	0.48286	3.042935	0.0223329272051142	0.40753	2.43728	0.0544738812055955	0.14976	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.54	3.47	0.38831	0.907000	0.28154	1.099000	0.24051	-0.224000	0.07868	0.604000	0.27780	0.529000	0.25352	0.880000	0.42090	0.4241:0.4384:0.1375:0.0	8.949	0.34939	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1604.33	36	chr17	50528757	.	C	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=779;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.124;SOR=0.917	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1462	18	0	1	0
chr17	50538171	50538171	G	A	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon3:c.G655A:p.A219T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0212122359536	7.7e-05	.	5.91e-05	9.934e-05	0.0002	0	0	3.067e-05	0.0011	6.158e-05	4.53e-05	7	154602	rs374859710	2.331e-05	2.599e-05	2.183e-05	2.48e-05	0.0002	1.678e-05	1.48e-05	9.823e-05	7.863e-05	8.968e-05	0.0002	0	0	0	0	6.298e-06	3.314e-05	0.0002	1.972e-05	1.97e-05	3.856e-05	0	4.827e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	1.471e-05	0	0	0.088	0.32296	T	0.028	0.54934	D	0.917	0.50750	P	0.672	0.53180	P	0.000005	0.62929	N	0.062168	0.99999	0.58761	D	2.625	0.76847	M	2.21	0.18414	T	-3.77	0.71397	D	0.641	0.65330	-0.7173	0.59595	T	0.215	0.57666	T	10	0.4195336	0.56769	T	0.021212	0.43943	T	0.193	0.47281	.	.	0.597924155889	0.59472	0.5312281341793412	0.53046	0.405051829818	0.41395	0.795867443085	0.81334	T	0.54003	0.84234	D	-0.181227	0.23552	T	-0.243051	0.50500	T	0.37366446852684	0.27938	T	0.956004	0.85735	D	0.3735266	0.58845	0.35327357	0.60892	0.3735266	0.58845	0.35327357	0.60891	-11.015	0.79740	D	.	.	0.928	0.84837	P	.;.	.;.	4.892991	0.80347	27.3	0.99646282510526674	0.77005	0.98762	0.86525	D	AEFBI	0.942710	0.94763	D	0.447331907510716	0.64053	4.651266	0.453978454592606	0.64971	4.765301	0.999999999999995	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	8.100000	0.89381	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	17.658	0.88086	941	0.13089	Ubiquitin interacting motif|Ubiquitin interacting motif|Ubiquitin interacting motif;Ubiquitin interacting motif|Ubiquitin interacting motif|Ubiquitin interacting motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1009.33	37	chr17	50538171	.	G	A	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.844;DP=732;ExcessHet=0;FS=5.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.248;SOR=1.329	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1421	18	0	1	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.05263	7083.81	40	chr17	50548440	.	A	G	7083.81	.	AC=2;AF=0.053;AN=38;DP=1121;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.14;SOR=0.772	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	1	0	0
chr17	50551047	50551047	C	T	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon11:c.C1385T:p.S462L,SPATA20:NM_001258373:exon12:c.C1253T:p.S418L,SPATA20:NM_022827:exon12:c.C1433T:p.S478L	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.0828021620692	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs147951599	0.0001	0.0001	0.0001	0.0001	0.0040	0.0001	0.0001	0.0027	0.0023	2.987e-05	0.0004	0.0018	0	0	0.0040	7.734e-05	0.0003	0.0001	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0024	0.0021	4.809e-05	0	0.0031	0.0017	0	0	0	2.94e-05	0.0005	0	0.003	0.72154	D	0.018	0.60337	D	0.86	0.47975	P	0.399	0.44455	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.6	0.76081	M	0.95	0.43279	T	-4.95	0.81910	D	0.829	0.91852	-0.7411	0.58396	T	0.175	0.51959	T	10	0.24658042	0.41925	T	0.082802	0.73979	D	0.464	0.76023	.	.	0.636824887168	0.63383	0.6413081650969661	0.64065	0.393197928144	0.40493	0.641404032707	0.58764	T	0.310627	0.68257	T	0.0915371	0.63361	D	0.119412	0.78196	D	0.756112337112427	0.43630	D	0.957038	0.83775	D	0.7139685	0.78826	0.66214406	0.80200	0.7139685	0.78828	0.66214406	0.80201	-10.314	0.75770	D	.	.	0.518	0.72372	A	.;.;.;.	.;.;.;.	4.690185	0.75145	26.3	0.99896432017712977	0.96895	0.98314	0.81539	D	ALL	0.958879	0.97891	D	0.629022314700083	0.75017	6.232314	0.673987161321917	0.80406	7.292259	1.0	0.98316	0.839682	0.99964	0	0.697927	0.68747	0	0.736553	0.94036	0	0.825845	0.99933	0	.	.	5.85	5.85	0.93663	7.848000	0.85199	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.165	0.98150	945	0.12563	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1575.33	35	chr17	50551047	.	C	T	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1186;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.122;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1406	18	0	1	0
chr17	50551629	50551629	C	-	exonic	SPATA20	.	frameshift deletion	SPATA20:NM_001258372:exon12:c.1647delC:p.R550Afs*2,SPATA20:NM_001258373:exon13:c.1515delC:p.R506Afs*2,SPATA20:NM_022827:exon13:c.1695delC:p.R566Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	1.368e-06	2.734e-06	0	0.0003	2.3e-07	9e-08	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1072.29	35	chr17	50551628	.	GC	G	1072.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.73;DP=710;ExcessHet=0;FS=6.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=-2.244;SOR=0.165	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1406	18	0	1	0
chr17	50578409	50578409	C	G	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256324:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256325:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256326:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256327:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256328:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256329:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256330:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256331:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256332:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256333:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256334:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256359:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256360:exon9:c.C2146G:p.L716V,CACNA1G:NM_001256361:exon9:c.C2146G:p.L716V,CACNA1G:NM_018896:exon9:c.C2146G:p.L716V,CACNA1G:NM_198376:exon9:c.C2146G:p.L716V,CACNA1G:NM_198377:exon9:c.C2146G:p.L716V,CACNA1G:NM_198378:exon9:c.C2146G:p.L716V,CACNA1G:NM_198379:exon9:c.C2146G:p.L716V,CACNA1G:NM_198380:exon9:c.C2146G:p.L716V,CACNA1G:NM_198382:exon9:c.C2146G:p.L716V,CACNA1G:NM_198383:exon9:c.C2146G:p.L716V,CACNA1G:NM_198384:exon9:c.C2146G:p.L716V,CACNA1G:NM_198385:exon9:c.C2146G:p.L716V,CACNA1G:NM_198386:exon9:c.C2146G:p.L716V,CACNA1G:NM_198387:exon9:c.C2146G:p.L716V,CACNA1G:NM_198388:exon9:c.C2146G:p.L716V,CACNA1G:NM_198396:exon9:c.C2146G:p.L716V	Spinocerebellar ataxia 42, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0941166639061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12837	T	0.538	0.15554	T	0.062	0.23277	B	0.085	0.35348	B	0.000783	0.00685	N	4.694730	1	0.08975	N	0.65	0.16133	N	-4.01	0.96826	D	-0.86	0.23372	N	0.302	0.36148	0.070	0.83613	D	0.835	0.94486	D	10	0.09592971	0.17169	T	0.094117	0.76195	D	0.221	0.51721	0.247	0.18293	0.676037036687	0.67328	0.2151509719885316	0.21431	0.0747485147847	0.08389	0.332052528858	0.15245	T	0.025	0.44901	T	0.0244735	0.54983	T	-0.202622	0.54398	T	0.366293966770172	0.27653	T	0.787421	0.43818	T	0.07126265	0.15763	0.0577495	0.10554	0.07126265	0.15762	0.0577495	0.10554	-5.673	0.45033	T	0.15930614139036198	0.19362	0.067	0.05404	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.881734	0.23905	16.19	0.87910544708640104	0.17573	0.21185	0.21311	N	AEFBI	0.240837	0.36255	N	-0.864014272389238	0.11707	0.5664329	-0.900845845286539	0.12074	0.618983	0.142450602797462	0.17298	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.98	1.74	0.23636	0.359000	0.19970	2.646000	0.33784	0.599000	0.40250	0.000000	0.06391	0.971000	0.29754	0.927000	0.46353	0.1379:0.6563:0.1329:0.0729	6.314	0.20386	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2776.33	36	chr17	50578409	.	C	G	2776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.476;DP=914;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.443;SOR=0.62	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	50603132	50603132	G	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256332:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198376:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198379:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198382:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198383:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198387:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198388:exon20:c.G4033A:p.D1345N,CACNA1G:NM_198396:exon20:c.G4033A:p.D1345N,CACNA1G:NM_001256324:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256325:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256326:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256327:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256328:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256329:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256330:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256331:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256333:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256334:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256359:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256360:exon21:c.G4102A:p.D1368N,CACNA1G:NM_001256361:exon21:c.G4102A:p.D1368N,CACNA1G:NM_018896:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198377:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198378:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198380:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198384:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198385:exon21:c.G4102A:p.D1368N,CACNA1G:NM_198386:exon21:c.G4102A:p.D1368N	Spinocerebellar ataxia 42, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.141867744395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413954832	3.423e-06	4.104e-06	0	6.881e-06	0.0007	1e-06	7.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.15047	T	0.621	0.10607	T	0.021	0.46518	B	0.021	0.50264	B	0.000000	0.84330	D	0.051382	0.999737	0.48635	D	-0.345	0.03330	N	-4.91	0.98352	D	-1.06	0.36980	N	0.229	0.36359	0.942	0.96271	D	0.900	0.96682	D	10	0.3096159	0.48447	T	0.141868	0.82427	D	0.439	0.74306	0.467	0.53891	0.749942049415	0.74768	0.615488866352744	0.61480	1.26890067579	0.82231	0.669167041779	0.62720	T	0.013114	0.81308	T	0.0249441	0.55046	T	-0.201946	0.54462	T	0.901067435741425	0.55372	D	0.945205	0.79148	D	0.27978843	0.51028	0.15997575	0.37283	0.27978843	0.51027	0.15997575	0.37283	-6.54	0.54092	T	0.12776263378134942	0.13134	0.090	0.29724	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.129770	0.61790	24.4	0.99328540878983218	0.59661	0.91370	0.53397	D	AEFDBI	0.599241	0.59234	D	-0.0459948928167617	0.39781	2.351574	0.110945628164241	0.45107	2.779859	0.985982097212616	0.30984	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.82	4.82	0.61641	3.304000	0.51572	8.452000	0.77222	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.904	0.88831	945	0.12563	.;.;.;.;Ion transport domain;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Ion transport domain;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1570.33	33	chr17	50603132	.	G	A	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=710;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=1.3;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr17	50660999	50660999	C	T	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_001144070:exon8:c.C883T:p.R295W,ABCC3:NM_003786:exon8:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.117860904123	.	.	5.82e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs770073679	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	8.963e-05	0	0	0	0	0	3.597e-06	0	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.028	0.79402	D	0.093	0.65571	B	0.033	0.49270	B	0.160320	0.03033	N	1.736900	1	0.08975	N	2.295	0.65404	M	-2.59	0.97172	D	-1.48	0.59059	N	0.248	0.28732	0.313	0.87767	D	0.865	0.95512	D	10	0.14050987	0.26707	T	0.117861	0.79775	D	0.268	0.58254	0.419	0.46036	0.851202202478	0.84977	0.4019421234819466	0.40110	0.476132634309	0.46754	0.243201255798	0.03086	T	0.191719	0.54666	T	-0.15448	0.27612	T	-0.1537	0.58916	T	0.201842650771141	0.20517	T	0.856214	0.54490	D	0.073594436	0.16456	0.06420552	0.12833	0.073594436	0.16456	0.06420552	0.12833	-6.651	0.51440	T	.	.	0.099	0.18950	B	.;.	.;.	2.790925	0.36690	20.3	0.99797714785102687	0.88283	0.11664	0.16782	N	AEFDGBHCI	0.352944	0.44553	N	-0.586805287476722	0.19345	1.011681	-0.717560513226644	0.16523	0.8745065	0.999998478668738	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.466023	0.07079	0	.	.	5.18	0.516	0.16217	1.054000	0.30064	-0.221000	0.10763	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4729:0.4401:0.0:0.087	6.493	0.21325	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	703.33	34	chr17	50660999	.	C	T	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=698;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.011;SOR=0.55	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr17	50684024	50684024	A	G	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon28:c.A4030G:p.K1344E	.	412	1101	9	0	0	9	0.00407056	.	.	.	727288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0163037891783	0.0005	0.000998403	0.0015	9.649e-05	0.0009	0	0	0.0008	0	0.0071	0.0012807	198	154602	rs150601692	0.0008	0.0008	0.0006	0.0010	0.0073	0.0007	0.0007	0.0069	0.0067	5.988e-05	0.0009	0.0069	0	0	0.0019	0.0002	0.0012	0.0073	0.0005	0.0005	0.0006	0.0005	0.0031	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0009	0.0058	0	0	0	0.0004	0	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.012046	0.29308	N	0.385040	1	0.08975	N	-0.89	0.01422	N	-3.1	0.92667	D	1.32	0.00925	N	0.087	0.06454	-0.6892	0.60945	T	0.403	0.75374	T	10	0.0060821474	0.00137	T	0.016304	0.37489	T	0.226	0.52472	.	.	0.559310644637	0.55592	0.4723890345879636	0.47157	0.217223232135	0.24242	0.277645945549	0.07166	T	0.174411	0.52362	T	-0.413208	0.01893	T	-0.362036	0.37817	T	0.008964396830968	0.00112	T	0.746025	0.36642	T	0.11902573	0.28033	0.07449888	0.16304	0.11902573	0.28033	0.07449888	0.16304	-0.851	0.00848	T	.	.	0.054	0.00303	B	.	.	1.029159	0.14089	10.66	0.4518754786010718	0.03528	0.03985	0.09401	N	AEFDBHCI	0.189402	0.31666	N	-1.11157312016442	0.06436	0.2962772	-0.986852560017786	0.10080	0.5054526	0.999985598095602	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.24	2.06	0.25932	1.457000	0.34822	2.000000	0.30117	-0.137000	0.12594	0.003000	0.16062	0.960000	0.29291	0.977000	0.56843	0.2169:0.1322:0.6509:0.0	7.713	0.27855	882	0.29131	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1287.33	33	chr17	50684024	.	A	G	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=759;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.515;SOR=0.791	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr17	50699525	50699525	A	G	exonic	ANKRD40	.	nonsynonymous SNV	ANKRD40:NM_052855:exon3:c.T652C:p.S218P	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0008	0.00758786	0.0054	0.0010	0.0320	0.0290	0	0.0002	0.0044	0.0001	0.0048706	753	154602	rs142677234	0.0021	0.0021	0.0023	0.0020	0.0418	0.0021	0.0021	0.0401	0.0395	0.0004	0.0273	3.826e-05	0.0418	0	0.0002	0.0001	0.0014	0.0002	0.0022	0.0022	0.0020	0.0024	0.0307	0.0020	0.0019	0.0268	0.0253	0.0008	0	0.0078	0	0.0307	0	0	0.0002	0.0019	0.0012	0.309	0.14064	T	0.3	0.20357	T	0.006	0.13644	B	0.005	0.11217	B	0.131000	0.18639	N	0.572025	1	0.08975	N	0.55	0.14455	N	1.94	0.22678	T	-0.03	0.07444	N	0.318	0.35832	-1.0198	0.23780	T	0.007	0.02244	T	10	0.002810359	0.00044	T	.	.	.	0.042	0.11227	.	.	0.0762999501168	0.06990	0.331465384315282	0.33059	0.373130535319	0.38784	0.47111082077	0.34834	T	0.004269	0.03680	T	-0.628763	0.00097	T	-0.629615	0.10444	T	0.00453025773363421	0.00048	T	0.657134	0.26688	T	0.038579755	0.05166	0.07057054	0.15008	0.038579755	0.05166	0.07057054	0.15008	-2.913	0.09274	T	.	.	0.071	0.03773	B	.	.	2.266156	0.28962	17.97	0.98939934627955162	0.48921	0.09326	0.15105	N	ALL	0.062019	0.11895	N	-0.638960625387119	0.17782	0.9179925	-0.481256626516533	0.22671	1.232507	0.999999994372576	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.86	0.32427	0.481000	0.21969	6.127000	0.53864	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.3765:0.2815:0.0821:0.2599	1.469	0.02266	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1935.33	35	chr17	50699525	.	A	G	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.506;DP=797;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.138;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr17	50699860	50699862	TCA	-	exonic	ANKRD40	.	nonframeshift deletion	ANKRD40:NM_052855:exon3:c.315_317del:p.D106del	.	426	1080	14	0	2	16	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129	.	0.0009	0.0007	0.0015	0.0010	0.0002	0.0009	0	0.0013	0.0002689	7	26028	rs774926022	0.0002	0.0011	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	9.941e-05	0.0002	9.985e-05	0.0001	0.0002	0.0006	0.0001	0.0002	0.0006	9.207e-05	9.847e-05	0.0001	6.728e-05	0.0004	5.532e-05	4.368e-05	7.33e-05	3.051e-05	0.0001	0	0	0	0	0	0.0034	7.353e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	821.29	35	chr17	50699859	.	GTCA	G	821.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=689;ExcessHet=0;FS=2.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=-1.08;SOR=1.27	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr17	50839627	50839627	C	A	exonic	WFIKKN2	.	nonsynonymous SNV	WFIKKN2:NM_001330341:exon2:c.C60A:p.H20Q,WFIKKN2:NM_175575:exon2:c.C339A:p.H113Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0238067329244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.21066	T	0.298	0.20486	T	0.006	0.13644	B	0.008	0.13708	B	0.000340	0.45700	D	0.221148	0.541765	0.32060	D	-0.69	0.01958	N	-1.4	0.80474	T	-0.67	0.19297	N	0.083	0.05929	-0.8739	0.50234	T	0.182	0.52950	T	10	0.08648351	0.14704	T	0.023807	0.46785	T	0.255	0.56562	0.405	0.43738	0.517104213562	0.51352	0.288740832519075	0.28787	0.16745843582	0.18892	0.490766763687	0.37545	T	0.016618	0.13705	T	-0.125215	0.32274	T	-0.417639	0.31345	T	0.480374336242676	0.31911	T	0.582942	0.21167	T	0.07109354	0.15712	0.098442994	0.23471	0.07109354	0.15712	0.098442994	0.23470	-4.505	0.30954	T	.	.	0.087	0.14431	B	.;.	.;.	1.415683	0.18319	13.67	0.94588221213111279	0.25138	0.25132	0.22606	N	AEFDBI	0.232702	0.35574	N	-0.797699788323772	0.13370	0.6581529	-0.624817367335481	0.18856	1.00918	0.870016362843917	0.25397	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.53	2.42	0.28720	-0.459000	0.06805	0.121000	0.14917	0.597000	0.34315	0.289000	0.25224	0.935000	0.28640	0.985000	0.61073	0.0:0.7834:0.0:0.2166	10.389	0.43337	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2302.33	178	chr17	50839627	.	C	A	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.621;DP=1018;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.6;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1198	18	0	1	0
chr17	50975899	50975899	C	T	exonic	SPAG9	.	nonsynonymous SNV	SPAG9:NM_001251971:exon24:c.G3055A:p.V1019I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0132805276289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048117113	6.652e-05	6.841e-05	6.282e-05	7.033e-05	0.0002	5.526e-05	5.122e-05	7.728e-05	6.022e-05	0	0	0	0	0	0.0002	7.142e-05	5.184e-05	0.0001	5.262e-05	5.254e-05	3.857e-05	6.732e-05	0.0002	2.559e-05	1.832e-05	1.972e-05	1.125e-05	7.247e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.052	0.39097	T	0.343	0.17857	T	.	.	.	.	.	.	.	.	.	.	0.999454	0.81001	D	.	.	.	1.91	0.23283	T	-0.38	0.13418	N	0.261	0.29544	-1.0592	0.11956	T	0.153	0.48188	T	8	0.2395696	0.41099	T	0.013281	0.32560	T	0.154	0.40340	0.363	0.36874	0.415955377315	0.41215	.	.	.	.	.	.	.	.	.	.	-0.249733	0.14131	T	-0.424043	0.30613	T	0.25970369409207	0.23302	T	0.882612	0.60317	D	.	.	.	.	.	.	.	.	-3.884	0.22062	T	.	.	0.152	0.33550	B	.	.	3.952655	0.57911	23.9	0.99663132274127519	0.78074	0.98602	0.84577	D	AEFDBI	0.627890	0.61018	D	0.648524482490317	0.76272	6.456178	0.66845236709393	0.79992	7.200846	0.999999999991337	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.422000	0.66191	3.364000	0.37882	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.0:1.0:0.0:0.0	19.707	0.96071	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1358.33	36	chr17	50975899	.	C	T	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=790;ExcessHet=0;FS=5.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.384;SOR=1.232	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1376	18	0	1	0
chr17	53823685	53823685	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G652A:p.V218M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.00868367391528	0.0002	0.000399361	0.0011	0	0.0003	0	0	0.0003	0.0022	0.0068	0.0009314	144	154602	rs372615987	0.0006	0.0006	0.0004	0.0007	0.0060	0.0005	0.0005	0.0056	0.0054	8.961e-05	6.708e-05	0	2.519e-05	0	0.0029	0.0002	0.0009	0.0060	0.0004	0.0004	0.0004	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	2.404e-05	0	0.0003	0	0	0	0.0068	0.0004	0.0005	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.972	0.72692	D	0.010146	0.30045	N	0.153038	0.871943	0.35580	D	4.08	0.97210	H	1.75	0.26152	T	-2.89	0.60665	D	0.525	0.55453	-0.0588	0.81019	T	0.279	0.65129	T	10	0.026045382	0.00781	T	0.008684	0.22927	T	0.311	0.63269	.	.	0.552656131934	0.54924	0.4509889434292239	0.45016	0.507607720466	0.48939	0.662219524384	0.61727	T	0.254636	0.62532	T	-0.219968	0.17996	T	-0.0862717	0.64441	T	0.206364495462122	0.20762	T	0.941606	0.78180	D	0.48744735	0.66350	0.54919016	0.73936	0.48744735	0.66351	0.54919016	0.73936	-10.377	0.76137	D	.	.	0.394	0.59222	A	.	.	4.747517	0.76619	26.5	0.99899468729775065	0.97199	0.93985	0.59767	D	AEFDBCI	0.604161	0.59536	D	1.02732481445749	0.96524	14.80165	0.920934470804943	0.96422	14.677	0.0311067499757519	0.13983	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	5.027000	0.63888	5.897000	0.50837	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0827:0.0:0.9173:0.0	12.094	0.53042	894	0.26265	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.007576	0.05263	6860.83	228	chr17	53823685	.	G	A	6860.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=3290;ExcessHet=0.119;FS=1.104;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.12;SOR=0.682	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	17	0	2	0
chr17	54903721	54903721	T	A	exonic	TOM1L1	.	nonsynonymous SNV	TOM1L1:NM_001321173:exon2:c.T72A:p.F24L,TOM1L1:NM_005486:exon2:c.T72A:p.F24L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0046889094826	.	.	1.653e-05	0	0	0	0	1.504e-05	0	6.081e-05	1.29e-05	2	154602	rs753638547	1.231e-05	1.231e-05	9.528e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.094e-06	6.623e-05	4.637e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.454	0.08891	T	0.654	0.06738	T	0.128	0.27003	B	0.012	0.16012	B	0.082471	0.20807	N	0.484707	0.983476	0.81001	D	1.61	0.41143	L	2.0	0.21473	T	-2.39	0.52612	N	0.2	0.25006	-1.0871	0.06030	T	0.036	0.15509	T	10	0.2132701	0.37813	T	0.004689	0.11660	T	0.127	0.34888	0.483	0.56462	0.249502417897	0.24576	0.28816725516264374	0.28729	0.151625667694	0.17110	0.713529109955	0.69104	T	0.083343	0.37033	T	-0.182445	0.23372	T	-0.402992	0.33036	T	0.182561129331589	0.19396	T	0.585741	0.21356	T	0.22031257	0.44583	0.1214675	0.29307	0.22031257	0.44583	0.1214675	0.29306	-3.07	0.13621	T	.	.	0.832	0.79563	P	.;.;.;.;.;.	.;.;.;.;.;.	2.445883	0.31484	18.76	0.99399331792294399	0.62702	0.77998	0.38419	D	AEFDBHCIJ	0.603016	0.59465	D	-0.213060783260108	0.32598	1.840062	-0.0478909149572738	0.37581	2.202409	0.999999765641107	0.74766	0.660085	0.49399	0	0.593476	0.48661	0	0.662677	0.59975	0	0.668105	0.65232	0	.	.	6.02	3.8	0.42887	0.097000	0.15007	2.816000	0.34935	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.1713:0.0:0.8287	7.173	0.24905	730	0.54327	.;VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain;.;VHS domain|VHS domain|VHS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	33	chr17	54903721	.	T	A	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.045;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1318	18	0	1	0
chr17	54949592	54949597	GAGTCT	-	exonic	TOM1L1	.	nonframeshift deletion	TOM1L1:NM_001321174:exon11:c.1026_1031del:p.S343_L344del,TOM1L1:NM_005486:exon13:c.1257_1262del:p.S420_L421del,TOM1L1:NM_001321175:exon14:c.1026_1031del:p.S343_L344del,TOM1L1:NM_001321176:exon14:c.1026_1031del:p.S343_L344del	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938498	0.0059	0	0.0002	0	0	1.502e-05	0.0022	0.0430	0.0001537	4	26028	rs574392654	0.0025	0.0025	0.0015	0.0035	0.0388	0.0024	0.0024	0.0377	0.0373	8.963e-05	4.472e-05	3.827e-05	0.0001	1.872e-05	0.0026	1.259e-05	0.0033	0.0388	0.0015	0.0015	0.0008	0.0022	0.0452	0.0013	0.0013	0.0403	0.0384	7.218e-05	0	6.534e-05	0	0	0	0	0	0.0009	0.0452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2736.29	35	chr17	54949591	.	AGAGTCT	A	2736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=841;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-0.252;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	18	0	1	0
chr17	54963299	54963299	G	T	exonic	COX11	.	nonsynonymous SNV	COX11:NM_001321518:exon3:c.C655A:p.Q219K	.	470	1051	1	0	0	1	0.000475511	0.0007	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00116135902717	.	.	1.684e-05	0	0	0	0	1.533e-05	0	6.134e-05	1.29e-05	2	154602	rs780726321	6.184e-06	6.841e-06	2.735e-06	9.668e-06	8.231e-05	2.91e-06	2.11e-06	3.813e-05	2.692e-05	0	0	0	0	0	0	1.804e-06	0	8.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.38891	T	0.104	0.25941	B	0.097	0.30390	B	.	.	.	.	1	0.19989	N	.	.	.	0.99	0.41750	T	.	.	.	0.285	0.32259	.	.	.	.	.	.	.	0.09888342	0.17909	T	0.001161	0.01459	T	.	.	.	.	0.557558522185	0.55416	.	.	.	.	.	.	.	.	.	.	-0.336181	0.05657	T	-0.617734	0.11364	T	.	.	.	0.246975	0.03645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32178	B	.	.	-0.125789	0.03490	0.655	0.63718056187694982	0.07298	0.16443	0.19391	N	AEFGBI	0.136908	0.25772	N	.	.	.	.	.	.	0.991274665790153	0.32432	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.83	3.86	0.43689	0.210000	0.17249	0.719000	0.20997	0.676000	0.76740	0.019000	0.19563	0.003000	0.18671	0.017000	0.10941	0.0917:0.1824:0.7259:0.0	7.355	0.25884	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	700.33	33	chr17	54963299	.	G	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=696;ExcessHet=0;FS=4.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.58;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	18	0	1	0
chr17	56374714	56374714	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon7:c.G919T:p.V307L,ANKFN1:NM_001365758:exon8:c.G706T:p.V236L,ANKFN1:NM_001370326:exon8:c.G910T:p.V304L	.	.	.	.	.	.	.	.	1.0000	0.962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382125558	1.376e-06	1.368e-06	1.37e-06	1.382e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	0	1.662e-05	0	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.008	0.58626	D	0.0	0.92824	D	0.489	0.36925	P	0.389	0.44119	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	-0.07	0.63738	T	-2.46	0.53736	N	0.773	0.82257	-0.3241	0.74307	T	0.355	0.71766	T	10	0.44382563	0.58269	T	0.06968	0.70796	D	0.362	0.68230	0.591	0.71999	0.869409262667	0.86814	0.43263015768963686	0.43180	0.456354093494	0.45290	0.61296916008	0.54736	T	0.29114	0.66390	T	0.204099	0.74275	D	0.055398	0.73939	D	0.982486009597778	0.74519	D	0.959504	0.88094	D	0.5243622	0.68509	0.48344833	0.70094	0.5243622	0.68511	0.48344833	0.70095	-7.862	0.60126	D	.	.	0.622	0.74114	P	.;.;.	.;.;.	7.033669	0.96059	35	0.99783285171336078	0.86955	0.99005	0.89843	D	AEFDBI	0.927765	0.91095	D	0.609630630075023	0.73783	6.022869	0.673907163333509	0.80402	7.290896	0.999972134649524	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	5.51	0.81769	9.071000	0.93394	11.853000	0.98135	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.781	0.96411	372	0.84213	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	33	chr17	56374714	.	G	T	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.726;DP=743;ExcessHet=0;FS=53.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.364;SOR=6.226	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1481	18	0	1	0
chr17	56814960	56814960	G	A	exonic	C17orf67	.	nonsynonymous SNV	C17orf67:NM_001085430:exon6:c.C65T:p.P22L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0304009924332	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs143175206	6.636e-05	6.704e-05	6.262e-05	7.014e-05	0.0005	5.562e-05	5.153e-05	0.0002	0.0002	0	0.0004	0.0007	2.519e-05	0	0.0005	3.238e-05	9.936e-05	0.0002	8.546e-05	8.539e-05	6.428e-05	0.0001	0.0005	4.96e-05	3.965e-05	0.0002	0.0002	2.415e-05	0	0.0005	0	0	0	0	7.35e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000118	0.50451	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.754	0.75283	-0.4224	0.71313	T	0.296	0.66735	T	9	0.4355885	0.57771	T	0.030401	0.52717	D	0.334	0.65620	.	.	0.168933306366	0.16529	0.5463462925469537	0.54560	0.199274834654	0.22328	.	.	.	.	.	.	0.134227	0.67772	D	0.271188	0.86637	D	0.682746231555939	0.39913	D	0.868713	0.57175	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.50213	B	.	.	3.584601	0.50547	23.0	0.99840480129251952	0.92057	0.95409	0.64607	D	AEFDBI	0.442568	0.50024	N	0.382708134763813	0.60485	4.237908	0.34971791119844	0.58490	4.019836	0.999859867555432	0.44174	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	4.7	4.7	0.58776	4.783000	0.62096	3.325000	0.37578	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0:0.0:1.0:0.0	17.986	0.89078	30	0.98208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1595.33	39	chr17	56814960	.	G	A	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=880;ExcessHet=0;FS=1.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=2.07;SOR=0.562	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1609,0,1847	18	0	1	0
chr17	57106389	57106389	-	GCTTGGATAGAAATGAGGAGG	exonic	AKAP1	.	nonframeshift insertion	AKAP1:NM_001370424:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370426:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_003488:exon2:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001242902:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001242903:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370423:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370425:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE,AKAP1:NM_001370427:exon3:c.925_926insGCTTGGATAGAAATGAGGAGG:p.E329_S330insGLDRNEE	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0014	0.0014	0.0010	0.0002	0.0001	0.0007	0	0.0005	3.881e-05	0.0003	0.0017	0.0003	0.0007	0.0004	0.0003	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0.0006	0	0	7.386e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1779.29	33	chr17	57106389	.	A	AGCTTGGATAGAAATGAGGAGG	1779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.435;DP=1218;ExcessHet=0;FS=6.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=-2.467;QD=10.65;ReadPosRankSum=-3.267;SOR=0.364	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H	.	432	1064	24	2	0	28	0.012987	.	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.001359	0.008772	0.000000	0.000000	0.006098	0.030303	0.02632	1305.33	34	chr17	57849279	.	G	T	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=765;ExcessHet=0;FS=4.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=1.37;SOR=1.017	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	18	0	1	0
chr17	58156067	58156067	T	C	exonic	OR4D1	.	nonsynonymous SNV	OR4D1:NM_012374:exon1:c.T914C:p.L305P	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00784282127995	0.0002	0.000399361	0.0004	0	0.0005	0	0	0.0004	0.0013	0.0009	0.0002975	46	154602	rs202247369	0.0003	0.0003	0.0002	0.0003	0.0033	0.0003	0.0002	0.0022	0.0018	0	0.0004	0.0031	2.521e-05	1.919e-05	0.0033	0.0001	0.0007	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0	0.0003	0.0005	0.0006	0.024	0.47745	D	0.079	0.42086	T	0.011	0.15914	B	0.01	0.14941	B	0.360896	0.13672	N	0.645667	0.999942	0.19238	N	1.585	0.39878	L	1.11	0.38883	T	-1.73	0.41046	N	0.176	0.18920	-1.0915	0.05286	T	0.055	0.23224	T	10	0.008800685	0.00199	T	0.007843	0.20798	T	0.126	0.34673	.	.	0.465209535841	0.46147	0.16960518967493005	0.16880	0.13878671293	0.15652	0.280712157488	0.07591	T	0.005607	0.05061	T	-0.488825	0.00660	T	-0.543762	0.17928	T	0.0223602982127205	0.00950	T	0.128487	0.01008	T	0.13740587	0.31817	0.12155279	0.29328	0.13740587	0.31817	0.12155279	0.29327	-4.957	0.36370	T	.	.	0.113	0.23148	B	.;.	.;.	1.082805	0.14659	11.21	0.90152237599545137	0.19431	0.06084	0.12058	N	AEFDBI	0.091788	0.18588	N	-0.807365655364013	0.13121	0.6442271	-0.761704709625642	0.15435	0.8117664	0.0219853058270617	0.13394	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.11	3.99	0.45527	-0.439000	0.06967	-2.802000	0.03346	-0.379000	0.05400	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1069:0.2098:0.6832	4.231	0.10056	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1464.33	36	chr17	58156067	.	T	C	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.412;SOR=0.708	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	58218626	58218626	T	C	exonic	MKS1	.	nonsynonymous SNV	MKS1:NM_001165927:exon2:c.A154G:p.T52A,MKS1:NM_001321269:exon2:c.A184G:p.T62A,MKS1:NM_001330397:exon2:c.A184G:p.T62A,MKS1:NM_017777:exon2:c.A184G:p.T62A	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	3407926	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.00623335102184	.	.	4.143e-05	0	8.654e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs758090787	3.371e-05	3.352e-05	9.592e-06	5.803e-05	0.0005	2.581e-05	2.325e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	4.989e-05	0.0005	4.596e-05	4.593e-05	0	9.4e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	0.812	0.03044	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.093499	0.02478	N	2.142410	1	0.18612	N	-0.205	0.04094	N	-0.26	0.67543	T	-0.51	0.16598	N	0.504	0.66529	-0.9591	0.39349	T	0.059	0.24908	T	10	0.028547794	0.00986	T	0.006233	0.16347	T	0.348	0.66956	0.133	0.03747	0.491112125781	0.48745	0.21900587012377654	0.21816	0.24617174184	0.27154	0.305601358414	0.11242	T	0.159719	0.50327	T	-0.263256	0.12522	T	-0.305407	0.44150	T	0.0081780009725031	0.00098	T	0.610139	0.23115	T	0.029850122	0.02548	0.027550627	0.00917	0.028888393	0.02295	0.029242925	0.01241	-2.708	0.07371	T	.	.	0.056	0.00730	B	.;.;.	.;.;.	1.012680	0.13919	10.48	0.8368087906706646	0.14860	0.02162	0.06348	N	AEFDBCI	0.043597	0.06911	N	-1.38774248899974	0.02752	0.1219736	-1.29483687137989	0.04500	0.212394	0.999995004286766	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.44	-4.34	0.03412	-0.564000	0.06027	-0.301000	0.10115	0.654000	0.53741	0.002000	0.15269	0.000000	0.08366	0.977000	0.56843	0.429:0.3428:0.0:0.2282	4.349	0.10581	572	0.70300	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1610.33	38	chr17	58218626	.	T	C	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=812;ExcessHet=0;FS=3.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.84;SOR=1.044	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr17	58252357	58252357	G	A	exonic	LPO	.	nonsynonymous SNV	LPO:NM_001160102:exon6:c.G707A:p.R236H,LPO:NM_006151:exon8:c.G956A:p.R319H	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.031472053428	0.0002	0.000199681	0.0002	9.69e-05	0	0.0029	0	3.008e-05	0	0.0001	0.000207	32	154602	rs147457460	7.661e-05	7.661e-05	7.487e-05	7.838e-05	0.0010	6.49e-05	6.07e-05	0.0008	0.0007	2.987e-05	2.236e-05	0.0004	0.0010	1.873e-05	0.0002	4.137e-05	9.934e-05	5.797e-05	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	9.632e-05	0	0	0.0003	0.0023	0	0	8.823e-05	0.0009	0.0002	0.047	0.58626	D	0.144	0.38450	T	0.398	0.34801	B	0.046	0.24676	B	0.031628	0.25141	N	0.457447	1	0.08975	N	1.85	0.49092	L	-0.44	0.69777	T	-1.92	0.44657	N	0.336	0.38541	-0.8264	0.53531	T	0.203	0.55989	T	10	0.020574361	0.00476	T	0.031472	0.53543	D	0.143	0.38195	.	.	0.851833584756	0.85040	0.44770665867799775	0.44688	0.52810492468	0.50404	0.454822599888	0.32603	T	0.195998	0.55225	T	-0.376104	0.03296	T	-0.314497	0.43174	T	0.0376552664054212	0.03271	T	0.243776	0.09684	T	0.13721398	0.31779	0.09333564	0.22042	0.13721398	0.31779	0.09333564	0.22041	-4.696	0.36336	T	.	.	0.077	0.08705	B	.;.;.;.	.;.;.;.	3.432527	0.47710	22.5	0.99599546319648469	0.74101	0.18353	0.20225	N	AEFDBI	0.252747	0.37237	N	-0.110609965469054	0.36929	2.141414	-0.0391182971932225	0.37966	2.230161	0.992117701142733	0.32724	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.3	4.12	0.47504	0.905000	0.28127	2.973000	0.35807	0.671000	0.69459	0.000000	0.06391	0.751000	0.26551	0.985000	0.61073	0.0885:0.0:0.7598:0.1517	8.877	0.34508	316	0.87161	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2074.33	33	chr17	58252357	.	G	A	2074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.255;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=1.74;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1417	18	0	1	0
chr17	58307725	58307725	C	G	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon23:c.G4689C:p.Q1563H,TSPOAP1:NM_001261835:exon24:c.G4869C:p.Q1623H,TSPOAP1:NM_004758:exon24:c.G4869C:p.Q1623H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00975110734013	0.0017	0.00279553	0.0010	0.0056	0.0032	0	0	0.0005	0.0022	0	0.0010155	157	154602	rs141226909	0.0004	0.0004	0.0005	0.0004	0.0060	0.0004	0.0004	0.0054	0.0051	0.0060	0.0026	0.0004	0	0	0.0007	0.0002	0.0008	3.478e-05	0.0021	0.0021	0.0021	0.0021	0.0058	0.0019	0.0018	0.0052	0.0050	0.0058	0.0088	0.0028	0.0003	0	0	0	0.0002	0.0038	0	0.022	0.50676	D	0.016	0.60972	D	0.979	0.59044	D	0.735	0.55480	P	0.092521	0.20270	N	0.529823	1	0.08975	N	2.08	0.57402	M	1.56	0.29602	T	-1.45	0.35597	N	0.207	0.24135	-1.1034	0.03704	T	0.051	0.21806	T	10	0.004238099	0.00085	T	0.009751	0.25449	T	0.045	0.12272	0.379	0.39482	0.387689773709	0.38380	0.5546125350070025	0.55388	0.200810428298	0.22476	0.324553728104	0.14111	T	0.021855	0.16951	T	-0.521467	0.00431	T	-0.519494	0.20346	T	0.012812740264566	0.00218	T	0.869013	0.58193	D	0.0767445	0.17375	0.063638404	0.12637	0.0767445	0.17375	0.063638404	0.12636	-3.983	0.23548	T	.	.	0.126	0.27968	B	.;.;.	.;.;.	1.739289	0.22131	15.49	0.9965511618627072	0.77568	0.21372	0.21378	N	AEFDGBCI	0.193169	0.32030	N	-0.119633907526653	0.36539	2.11335	-0.14294785819307	0.33680	1.929139	0.994483591043477	0.33658	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.79	2.24	0.27264	-0.168000	0.09914	0.070000	0.14249	-0.171000	0.11205	0.019000	0.19563	0.002000	0.18203	0.818000	0.38543	0.0:0.601:0.0:0.399	7.594	0.27207	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1689.33	44	chr17	58307725	.	C	G	1689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.7;DP=906;ExcessHet=0;FS=1.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.04;SOR=0.703	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1440	18	0	1	0
chr17	58326738	58326738	G	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_001261835:exon2:c.C386T:p.A129V,TSPOAP1:NM_004758:exon2:c.C386T:p.A129V,TSPOAP1:NM_024418:exon2:c.C386T:p.A129V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00787001909076	.	.	0.0003	0	0	0	0	0	0	0.0019	0.0002005	31	154602	rs748701912	0.0001	0.0001	7.079e-05	0.0001	0.0017	9.603e-05	9.083e-05	0.0014	0.0014	0	2.236e-05	0	0	0	0	2.698e-06	0.0002	0.0017	3.943e-05	3.94e-05	0	8.071e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.019	0.78490	D	0.005	0.72224	D	0.767	0.43786	P	0.439	0.45685	B	0.000019	0.62929	D	0.068154	0.892288	0.35979	D	1.1	0.28011	L	3.36	0.05918	T	-2.09	0.47683	N	0.569	0.61933	-1.1134	0.02793	T	0.052	0.22230	T	10	0.039906263	0.02517	T	0.00787	0.20877	T	0.066	0.19193	0.218	0.13932	0.574740180783	0.57141	0.4980325598482961	0.49724	0.637256965817	0.57471	0.485219538212	0.36776	T	0.026045	0.19354	T	-0.430841	0.01465	T	-0.410664	0.32148	T	0.175734892487526	0.18962	T	0.955004	0.82846	D	0.32950237	0.55431	0.3574449	0.61238	0.32950237	0.55431	0.3574449	0.61238	-8.419	0.63891	D	.	.	0.292	0.52360	B	.;.	.;.	3.677708	0.52329	23.2	0.99866061366202197	0.94457	0.95019	0.63143	D	AEFDBHCIJ	0.566506	0.57246	D	0.491484272627269	0.66591	4.97	0.498568153613622	0.67894	5.145678	0.999999995221353	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	4.73	0.59485	2.767000	0.47321	6.622000	0.56123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8275:0.1725	12.022	0.52642	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	38	chr17	58326738	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.455;DP=752;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.02;SOR=0.475	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	58358683	58358683	C	T	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon8:c.G712A:p.A238T,RNF43:NM_001305544:exon9:c.G1093A:p.A365T,RNF43:NM_017763:exon9:c.G1093A:p.A365T	Sessile serrated polyposis cancer syndrome, Autosomal dominant	412	1104	6	0	0	6	0.00271003	.	.	.	1158056	not_provided|Hyperplastic_polyposis_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0015524,MedGen:C4296896,Orphanet:157798|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.003	.	0.0002	0.00439297	0.0062	0.0004	0.0014	0.0662	0.0039	0.0002	0.025	0.0057	0.0019663	304	154602	rs79309393	0.0011	0.0011	0.0010	0.0011	0.0257	0.0010	0.0010	0.0244	0.0238	0.0001	0	0.0003	0.0257	0.0020	0.0005	0.0001	0.0028	0.0019	0.0017	0.0017	0.0014	0.0020	0.0345	0.0015	0.0015	0.0304	0.0288	0.0002	0	0.0014	0.0003	0.0345	0.0023	0	0.0001	0.0033	0.0021	0.398	0.10553	T	0.63	0.08189	T	0.0	0.02946	B	0.001	0.06944	B	0.586660	0.05567	N	1.225170	1	0.08975	N	1.01	0.25309	L	3.17	0.10771	T	0.16	0.05217	N	0.038	0.02462	-0.9451	0.41797	T	0.005	0.01688	T	10	0.0019725263	0.00027	T	.	.	.	0.003	0.00094	.	.	0.119812018005	0.11559	0.2771556330430243	0.27628	0.389048011614	0.40154	0.479608386755	0.36002	T	0.019812	0.15712	T	-0.765704	0.00014	T	-0.838349	0.01124	T	0.00372042678622892	0.00039	T	0.605039	0.22725	T	0.034145445	0.03776	0.050626077	0.07985	0.03314893	0.03476	0.05229166	0.08585	-4.301	0.28664	T	.	.	0.071	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.759730	0.01189	0.058	0.76176809036314519	0.11363	0.02724	0.07388	N	AEFDBI	0.065353	0.12743	N	-1.64575969625381	0.01053	0.04568977	-1.73526804440656	0.00990	0.04435794	0.999999973144572	0.74766	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.84	-7.49	0.01212	-0.740000	0.04966	-0.049000	0.12570	-1.896000	0.00528	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.4087:0.1873:0.2174:0.1866	0.795	0.00996	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.007634	0.02632	686.33	39	chr17	58358683	.	C	T	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.141;DP=753;ExcessHet=0;FS=0.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.058;SOR=0.954	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	58362593	58362593	A	G	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon5:c.T257C:p.I86T,RNF43:NM_001305544:exon6:c.T638C:p.I213T,RNF43:NM_017763:exon6:c.T638C:p.I213T	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3909725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.00837648040079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291066204	6.85e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.01	0.65728	D	0.061	0.45171	B	0.02	0.40739	B	0.567514	0.11272	N	0.817110	0.998936	0.45716	D	1.995	0.54099	M	3.11	0.11622	T	-1.62	0.38924	N	0.509	0.57690	-1.0001	0.29888	T	0.024	0.10103	T	10	0.3187763	0.49272	T	0.008376	0.22181	T	0.182	0.45420	0.488	0.57257	0.379366414296	0.37549	0.7014635827885535	0.70087	1.02746352211	0.75325	0.739188194275	0.72852	T	0.064472	0.32442	T	-0.0961874	0.37056	T	-0.375943	0.36197	T	0.80745941400528	0.46868	D	0.858914	0.54988	D	0.1587679	0.35701	0.2064533	0.44859	0.1587679	0.35701	0.2064533	0.44858	-5.615	0.47084	T	.	.	0.546	0.66635	A	.;.;.;.;.;.	.;.;.;.;.;.	3.809388	0.54942	23.5	0.9975640756230244	0.84694	0.98945	0.88990	D	AEFDBI	0.867649	0.78749	D	0.141071917983129	0.48390	3.051848	0.305030358730018	0.55835	3.746289	0.999999999999818	0.74766	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.392000	0.79116	8.145000	0.76695	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	14.643	0.68345	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1026.33	34	chr17	58362593	.	A	G	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=727;ExcessHet=0;FS=1.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.031;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	18	0	1	0
chr17	58487734	58487734	C	T	exonic	HSF5	.	nonsynonymous SNV	HSF5:NM_001080439:exon1:c.G541A:p.E181K	.	414	1107	1	0	0	1	0.000451467	.	.	.	3274273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0166187062439	.	0.000199681	6.504e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs576559569	8.641e-05	8.345e-05	9.063e-05	8.197e-05	0.0015	7.285e-05	6.791e-05	0.0006	0.0004	8.235e-05	8.138e-05	0	0	6.73e-05	0.0015	8.122e-05	0.0003	1.932e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.717e-05	0.0001	8.883e-05	0	0	0.0003	0	0	0	0.0103	0.0002	0.0009	0.0002	0.026	0.46910	D	0.244	0.24123	T	.	.	.	.	.	.	0.024576	0.01614	N	2.421080	0.970264	0.38786	D	.	.	.	1.47	0.31987	T	0.06	0.06253	N	0.266	0.30118	-0.9601	0.39162	T	0.040	0.17191	T	10	0.055048913	0.05957	T	0.016619	0.37963	T	0.083	0.24192	0.347	0.34274	0.220282294035	0.21616	0.49633873638034365	0.49554	1.62008735589	0.89050	0.818589687347	0.84812	D	.	.	.	-0.107123	0.35243	T	-0.391651	0.34357	T	0.0867632904098927	0.10830	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38227	B	.	.	3.099966	0.41772	21.4	0.98422581574705914	0.41298	0.52202	0.29075	D	ALL	0.110509	0.21911	N	-0.511473056305219	0.21708	1.154053	-0.499602961645879	0.22165	1.202569	0.99999999970663	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.596394	0.31383	0	0.554799	0.18163	0	.	.	3.91	3.91	0.44383	1.577000	0.36124	7.502000	0.59501	0.522000	0.23927	0.103000	0.22855	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	13.173	0.59031	307	0.87649	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004155	0.007937	0.000000	0.000000	0.003226	0.000000	0.02632	32.35	8	chr17	58487734	.	C	T	32.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=232;ExcessHet=0;FS=0;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.49;ReadPosRankSum=-1.189;SOR=1.508	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,367	18	0	1	0
chr17	58599361	58599361	C	G	exonic	TEX14	.	nonsynonymous SNV	TEX14:NM_001201457:exon14:c.G2002C:p.E668Q,TEX14:NM_031272:exon14:c.G1984C:p.E662Q,TEX14:NM_198393:exon14:c.G1984C:p.E662Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0429250001694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	6.806e-06	5.5e-06	0.0002	2.9e-06	2.1e-06	3.765e-05	2.662e-05	2.987e-05	0	0	0	0	0.0002	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.247	0.23914	T	0.999	0.77913	D	0.958	0.70027	D	0.001435	0.39044	N	0.181885	1	0.08975	N	2.215	0.62545	M	-1.44	0.80815	T	-1.22	0.30964	N	0.194	0.29313	-0.2033	0.77585	T	0.587	0.85189	D	10	0.226096	0.39456	T	0.042925	0.60718	D	0.284	0.60219	0.075	0.00517	0.878218186503	0.87702	0.08794769254336768	0.08727	0.236152907245	0.26150	0.389699995518	0.23627	T	0.075948	0.35301	T	0.0111168	0.53177	T	-0.221808	0.52562	T	0.892991065979004	0.54416	D	0.823718	0.48487	T	0.13162322	0.30673	0.12895839	0.31016	0.13162322	0.30673	0.12895839	0.31015	-5.443	0.41350	T	.	.	0.195	0.41678	B	.;.;.	.;.;.	3.070741	0.41274	21.3	0.99723309235948454	0.82195	0.17154	0.19713	N	AEFDGBHCI	0.128456	0.24623	N	0.320829837296694	0.57219	3.888428	0.23513607213793	0.51808	3.360207	0.00514874875894249	0.10842	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	1.720000	0.37644	7.563000	0.60525	0.599000	0.40250	0.099000	0.22773	1.000000	0.68203	0.193000	0.21690	0.0:0.9135:0.0:0.0865	10.725	0.45262	334	0.86273	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2210.33	33	chr17	58599361	.	C	G	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=1138;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.824;SOR=0.833	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr17	58756283	58756285	GAG	-	exonic	PPM1E	.	nonframeshift deletion	PPM1E:NM_014906:exon1:c.286_288del:p.E100del	.	247	1258	17	0	0	17	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0577	.	0.0331	0.0130	0.0424	0.0312	0	0.0246	0.03	0.0411	0.0012679	33	26028	rs544816257	0.0010	0.0080	0.0009	0.0012	0.0035	0.0010	0.0009	0.0030	0.0028	0.0015	0.0035	0.0019	0.0027	0.0010	0.0020	0.0007	0.0012	0.0032	3.333e-05	0.0003	3.905e-05	2.732e-05	2.445e-05	1.275e-05	8.08e-06	.	.	2.445e-05	0	0	0	0	0.0003	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081796	0.098765	0.086572	0.043919	0.250000	0.106383	0.100746	0.068182	0.02632	34.3	29	chr17	58756282	.	TGAG	T	34.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.185;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.968;SOR=0.409	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	0	1	0
chr17	58980672	58980672	G	A	exonic	PPM1E	.	nonsynonymous SNV	PPM1E:NM_014906:exon7:c.G1909A:p.E637K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00554851837144	7.7e-05	.	9.062e-05	0	0.0002	0	0	4.497e-05	0.0011	0.0003	7.76e-05	12	154602	rs377209500	7.593e-05	7.593e-05	7.078e-05	8.113e-05	0.0005	6.423e-05	6.004e-05	0.0004	0.0003	0	0.0002	0.0001	0	0	0.0002	4.137e-05	0.0001	0.0005	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.099	0.30656	T	1.0	0.01155	T	.	.	.	.	.	.	0.310133	0.14448	N	0.701721	0.997797	0.22503	N	.	.	.	2.3	0.16953	T	-0.06	0.07882	N	0.238	0.26837	-1.0096	0.27043	T	0.024	0.10148	T	10	0.048874974	0.04399	T	0.005549	0.14319	T	0.037	0.09474	.	.	0.043077524339	0.03247	0.2861528144703166	0.28528	0.0878000191581	0.09913	0.32395657897	0.14020	T	.	.	.	-0.489946	0.00650	T	-0.619583	0.11218	T	0.0231942180544138	0.01046	T	0.610139	0.23115	T	0.04711919	0.08001	0.06604532	0.13472	0.04711919	0.08001	0.06604532	0.13472	-3.6	0.17857	T	.	.	0.066	0.02285	B	.	.	2.238446	0.28578	17.84	0.98673580797824523	0.44512	0.61764	0.31580	D	AEFBCI	0.044968	0.07300	N	-0.546504967920779	0.20592	1.086753	-0.324077246156903	0.27323	1.515323	0.00825328097892678	0.11641	0.615465	0.37627	0	0.573078	0.20572	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.58	4.6	0.56512	2.004000	0.40474	3.390000	0.38061	-1.172000	0.01398	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	0.1386:0.7173:0.1441:0.0	11.196	0.47939	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1454.33	33	chr17	58980672	.	G	A	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.734;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.993;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	18	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	92	chr17	59737489	.	A	C	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.074;DP=765;ExcessHet=0;FS=125.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=1.29;SOR=6.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	18	0	1	0
chr17	59860348	59860348	C	T	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193613:exon6:c.G688A:p.V230I,TUBD1:NM_001193611:exon7:c.G1030A:p.V344I,TUBD1:NM_001193609:exon8:c.G1171A:p.V391I,TUBD1:NM_001193610:exon8:c.G1165A:p.V389I,TUBD1:NM_001193612:exon9:c.G814A:p.V272I,TUBD1:NM_016261:exon9:c.G1336A:p.V446I	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0322241718653	.	.	0.0003	0	0.0028	0	0	0	0	0	0.000207	32	154602	rs764428158	5.271e-05	5.404e-05	6.948e-05	3.578e-05	0.0017	4.281e-05	3.956e-05	0.0014	0.0012	0	0.0017	0	0	0	0	8.998e-07	3.315e-05	0	4.613e-05	4.599e-05	3.864e-05	5.398e-05	0.0005	2.115e-05	1.53e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	0	0	0	0.541	0.09806	T	0.807	0.08839	T	0.012	0.27697	B	0.02	0.29521	B	0.000781	0.41888	N	0.261137	0.589491	0.32443	D	0.155	0.08919	N	-1.1	0.79475	T	-0.04	0.11366	N	0.156	0.22098	-0.6403	0.63133	T	0.259	0.62988	T	10	0.012981564	0.00277	T	0.032224	0.54110	D	0.092	0.26621	0.605	0.73706	0.561371282746	0.55799	0.2653377443976471	0.26446	0.0896114288613	0.10122	0.37852782011	0.22047	T	0.013912	0.11944	T	-0.40593	0.02116	T	-0.362651	0.37745	T	0.0396597084950704	0.03630	T	0.851615	0.54093	D	0.032271173	0.03221	0.044664834	0.05837	0.032271173	0.03221	0.044664834	0.05837	-3.682	0.26968	T	.	.	0.088	0.17016	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.318032	0.29679	18.20	0.83361570235881521	0.14684	0.76170	0.37337	D	AEFDBCI	0.137771	0.25886	N	-0.344061586140005	0.27492	1.508711	-0.153447389446142	0.33276	1.901778	0.999941987565197	0.47345	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	3.67	0.41236	1.831000	0.38781	2.669000	0.33934	0.549000	0.26987	0.981000	0.35396	1.000000	0.68203	0.984000	0.60418	0.0:0.791:0.0:0.209	10.162	0.42033	507	0.75469	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	604.33	69	chr17	59860348	.	C	T	604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=700;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.55;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	0	1	0
chr17	59878174	59878174	T	A	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193613:exon2:c.A50T:p.H17L,TUBD1:NM_001193609:exon5:c.A698T:p.H233L,TUBD1:NM_001193610:exon5:c.A698T:p.H233L,TUBD1:NM_001193611:exon5:c.A698T:p.H233L,TUBD1:NM_016261:exon5:c.A698T:p.H233L,TUBD1:NM_001193612:exon6:c.A341T:p.H114L	.	426	1095	1	0	0	1	0.000456413	.	.	.	2369624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.393	0.105242471092	.	.	9.06e-05	0	0	0	0	5.994e-05	0.0011	0.0004	7.12e-05	11	154602	rs767904487	8.345e-05	8.345e-05	6.67e-05	0.0001	0.0007	7.136e-05	6.684e-05	0.0003	0.0003	0	6.708e-05	7.653e-05	0	0	0.0007	6.475e-05	6.623e-05	0.0004	7.222e-05	7.218e-05	7.71e-05	6.712e-05	0.0002	3.968e-05	3.125e-05	2.846e-05	1.858e-05	2.405e-05	0	0.0001	0	0	0	0	7.349e-05	0.0009	0.0002	0.008	0.68238	D	0.163	0.69154	T	0.215	0.51791	B	0.065	0.54588	B	0.000000	0.84330	D	0.088856	1	0.81001	D	2.865	0.83145	M	-0.21	0.66294	T	-8.28	0.96946	D	0.792	0.78832	-0.3764	0.72764	T	0.365	0.72605	T	10	0.7579179	0.76123	D	0.105242	0.78026	D	0.393	0.70844	.	.	0.875190313375	0.87397	0.7338942863234376	0.73334	0.384505594684	0.39751	0.561965942383	0.47545	T	0.228442	0.59400	T	-0.0142071	0.49674	T	0.0523345	0.73738	D	0.89497834444046	0.54645	D	0.922608	0.71859	D	0.76437616	0.81712	0.71131265	0.82969	0.76437616	0.81714	0.71131265	0.82970	-3.365	0.14589	T	.	.	0.153	0.44042	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.817768	0.55106	23.6	0.97489375375313136	0.34235	0.92955	0.56960	D	AEFDGBCI	0.797606	0.72440	D	0.283949601708467	0.55332	3.697575	0.367789768555179	0.59586	4.137748	0.604826238857554	0.21756	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	5.909000	0.69661	7.872000	0.72015	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.943	0.79564	498	0.76166	.;Tubulin/FtsZ, GTPase domain;.;.;.;Tubulin/FtsZ, GTPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1745.33	36	chr17	59878174	.	T	A	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=779;ExcessHet=0;FS=5.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.228;SOR=1.018	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	60078823	60078823	C	A	exonic	HEATR6	.	nonsynonymous SNV	HEATR6:NM_022070:exon1:c.G92T:p.R31L	.	380	1140	2	0	0	2	0.000876424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	7.7e-05	0.00319489	0.0035	0	0.0002	0	0	0	0	0.0213	0.0017205	266	154602	rs377099611	0.0009	0.0010	0.0005	0.0014	0.0154	0.0009	0.0009	0.0147	0.0144	3.001e-05	2.273e-05	0	5.089e-05	0	0.0002	4.51e-06	0.0009	0.0154	0.0005	0.0006	0.0002	0.0009	0.0164	0.0005	0.0004	0.0135	0.0124	0	0	6.577e-05	0	0	0	0	2.943e-05	0.0005	0.0164	0.373	0.11442	T	0.224	0.25827	T	0.116	0.26475	B	0.07	0.27859	B	0.098430	0.19981	N	0.575055	0.676384	0.30318	N	2.14	0.59869	M	0.97	0.42502	T	-1.02	0.26843	N	0.551	0.57690	-0.9785	0.35345	T	0.095	0.35897	T	10	0.0054709613	0.00121	T	.	.	.	0.093	0.26882	.	.	0.541466613703	0.53798	0.26561306868967205	0.26474	0.177121502232	0.19927	0.628523945808	0.56935	T	0.01699	0.15948	T	-0.42141	0.01675	T	-0.366427	0.37306	T	0.110907951942565	0.13517	T	0.882412	0.60266	D	0.1253103	0.29380	0.1360711	0.32561	0.1253103	0.29379	0.1360711	0.32560	-4.101	0.25305	T	.	.	0.119	0.47492	B	.;.;.	.;.;.	2.182193	0.27816	17.59	0.99119155718284957	0.52932	0.31328	0.24309	N	ALL	0.556292	0.56638	D	-0.248268491834074	0.31173	1.745294	-0.185555983961268	0.32066	1.820713	0.999999999999536	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	3.04	0.34171	2.265000	0.42968	3.198000	0.36737	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.7359:0.1712:0.0928	7.308	0.25633	160	0.93798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002030	0.000000	0.000000	0.008772	0.000000	0.000000	0.003086	0.003817	0.02632	971.33	36	chr17	60078823	.	C	A	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.265;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.517;SOR=0.735	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1359	18	0	1	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008294	0.000000	0.008264	0.000000	0.000000	0.008772	0.011538	0.008264	0.05263	3385.81	33	chr17	60183298	.	A	C	3385.81	.	AC=2;AF=0.053;AN=38;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.23;SOR=1.262	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	18	1	0	0
chr17	61483092	61483092	C	G	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon8:c.C1214G:p.S405C,TBX4:NM_001321120:exon9:c.C1217G:p.S406C	Ischiocoxopodopatellar syndrome, Autosomal dominant	0	1503	16	3	0	22	0.00726552	.	.	.	346648	TBX4-related_disorder|not_provided|Coxopodopatellar_syndrome	.|MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0207397030279	0.0003	0.000998403	0.0008	0	0.0012	0	0.0002	0.0006	0.0011	0.0021	0.0007438	115	154602	rs140662248	0.0007	0.0007	0.0005	0.0008	0.0055	0.0006	0.0006	0.0040	0.0035	0.0005	0.0012	0.0045	0	0.0002	0.0055	0.0004	0.0013	0.0026	0.0006	0.0006	0.0007	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	0.0002	0	0.0014	0.0037	0	9.418e-05	0.0136	0.0005	0.0009	0.0029	0.003	0.68238	D	0.102	0.38450	T	0.875	0.48103	P	0.43	0.45392	B	0.001248	0.39669	N	0.261606	0.687369	0.33292	D	1.79	0.46772	L	0.92	0.44461	T	-1.91	0.44471	N	0.239	0.38232	-0.7850	0.56019	T	0.157	0.48858	T	9	0.007683784	0.00175	T	0.02074	0.43393	T	0.076	0.22200	.	.	0.79909207963	0.79722	0.2513201946464112	0.25046	1.0641732032	0.76574	0.618712127209	0.55546	T	0.204	0.56265	T	-0.496488	0.00598	T	-0.491185	0.23266	T	0.0455302304764379	0.04699	T	0.864413	0.56163	D	0.13419783	0.31188	0.18367727	0.41372	0.15932864	0.35795	0.12985265	0.31213	-4.812	0.35248	T	.	.	0.109	0.20702	B	.;.;.;.	.;.;.;.	4.639042	0.73833	26.1	0.99281848608955037	0.57938	0.78266	0.38588	D	AEFDGBCI	0.349945	0.44356	N	0.408531803901281	0.61889	4.396427	0.461972261745596	0.65488	4.830309	0.998728261075868	0.37539	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	2.302000	0.43298	7.645000	0.63394	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.412	0.90499	202	0.92131	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.015152	0.005435	0.011696	0.000000	0.000000	0.003049	0.003788	0.02632	2694.33	34	chr17	61483092	.	C	G	2694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=854;ExcessHet=0;FS=1.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.688;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr17	61784346	61784346	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon11:c.G1552A:p.V518I	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	5	1514	3	0	0	3	0.000989772	.	.	YES	185270	Fanconi_anemia_complementation_group_J|Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.017142626447	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786201701	2.738e-06	2.736e-06	2.725e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.123e-05	2.533e-05	0	0	0	0	0	0.0003	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.536	0.10967	T	0.0	0.02946	B	0.0	0.01387	B	0.006571	0.31942	N	0.361089	0.999906	0.19694	N	-0.315	0.03579	N	-0.72	0.74265	T	-0.08	0.08187	N	0.026	0.00527	-1.0046	0.28577	T	0.081	0.32090	T	9	0.01914084	0.00424	T	0.017143	0.38716	T	0.127	0.34888	0.282	0.23801	0.379881503574	0.37595	0.09410078353605628	0.09342	0.129847023241	0.14643	0.301818549633	0.10672	T	0.086023	0.37632	T	-0.187705	0.22595	T	-0.507401	0.21583	T	0.0334268249571323	0.02541	T	0.483152	0.14651	T	0.028192192	0.02119	0.03221079	0.01923	0.028192192	0.02119	0.03221079	0.01923	-3.533	0.16897	T	0.16086567736523635	0.19654	0.063	0.01387	B	.;.	.;.	-0.938155	0.00864	0.030	0.53681989125507512	0.04987	0.04767	0.10476	N	AEFGBCI	0.032784	0.03768	N	-1.52167591810791	0.01707	0.07473236	-1.49297294354067	0.02401	0.1103896	0.999969947323272	0.48965	0.660377	0.49826	0	0.633563	0.54681	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	-7.76	0.01094	-0.130000	0.10477	-5.929000	0.01549	-0.153000	0.12021	0.251000	0.24859	0.000000	0.08366	0.978000	0.57271	0.0:0.5575:0.0:0.4425	15.334	0.73942	49	0.97662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1811.33	33	chr17	61784346	.	C	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.924;DP=783;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.825;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr17	61847151	61847151	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon6:c.G577A:p.V193I	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	7	1502	11	2	0	15	0.00496853	.	.	YES	133649	Breast_and/or_ovarian_cancer|not_provided|Ovarian_cancer|not_specified|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia_complementation_group_J|Hereditary_breast_ovarian_cancer_syndrome	MedGen:CN221562|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0427326126431	0.0040	0.00139776	0.0040	0.0004	0.0044	0	0.0015	0.0057	0.0055	0.0019	0.0037774	584	154602	rs4988346	0.0040	0.0041	0.0041	0.0040	0.0094	0.0040	0.0039	0.0074	0.0067	0.0006	0.0037	0.0051	0	0.0011	0.0094	0.0045	0.0041	0.0026	0.0030	0.0030	0.0032	0.0029	0.0049	0.0028	0.0027	0.0045	0.0043	0.0007	0.0132	0.0031	0.0037	0	0.0009	0.0102	0.0049	0.0038	0.0014	0.911	0.02361	T	0.613	0.07919	T	0.0	0.02946	B	0.001	0.04355	B	0.026343	0.01647	N	2.024820	1	0.08975	N	1.845	0.48678	L	-0.8	0.74583	T	-0.26	0.11185	N	0.035	0.01658	-0.9417	0.42346	T	0.194	0.54768	T	9	0.005566299	0.00123	T	0.042733	0.60619	D	0.071	0.20720	.	.	0.287603790349	0.28378	0.1385714749601418	0.13780	0.129564647105	0.14605	0.231396526098	0.02073	T	0.093285	0.39180	T	-0.595182	0.00156	T	-0.623988	0.10874	T	0.00131501224498598	0.00013	T	0.40306	0.10319	T	0.010016596	0.00005	0.016203519	0.00013	0.0106648905	0.00009	0.016928716	0.00023	-3.709	0.19451	T	0.11864809193338173	0.10969	0.064	0.01909	B	.;.	.;.	-0.962179	0.00826	0.028	0.53543295037057992	0.04960	0.00956	0.03673	N	AEFDGBI	0.021225	0.00923	N	-1.64424915565625	0.01060	0.04597174	-1.76429798153617	0.00880	0.03935571	0.755465242750538	0.23426	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.26	-8.22	0.00910	-0.580000	0.05920	-0.474000	0.08960	-1.030000	0.01696	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3095:0.5173:0.0:0.1732	7.958	0.29217	45	0.97767	Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase superfamily 1/2, ATP-binding domain|Helicase-like, DEXD box c2 type;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase superfamily 1/2, ATP-binding domain|Helicase-like, DEXD box c2 type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.010204	0.006793	0.011696	0.000000	0.000000	0.018293	0.000000	0.02632	1311.33	33	chr17	61847151	.	C	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.034;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1252	18	0	1	0
chr17	61869976	61869976	C	G	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon21:c.G2791C:p.V931L,INTS2:NM_001351695:exon21:c.G2791C:p.V931L,INTS2:NM_020748:exon21:c.G2815C:p.V939L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0436625073757	.	0.000599042	0.0004	0	0	0	0	0.0001	0	0.0026	0.0003428	53	154602	rs563606143	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0019	0.0018	0	6.71e-05	7.656e-05	0	0	0.0011	3.868e-05	0.0001	0.0022	8.535e-05	9.186e-05	0.0001	6.714e-05	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	2.406e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0017	0.034	0.44029	D	0.013	0.63109	D	0.902	0.49745	P	0.927	0.66185	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.28	0.59037	T	-2.27	0.50666	N	0.741	0.74098	-0.3498	0.73560	T	0.390	0.74430	T	9	0.018734217	0.00410	T	0.043663	0.61100	D	0.226	0.52472	0.249	0.18602	0.629431430265	0.62640	0.5206956201197347	0.51992	0.749106476794	0.63673	0.762526273727	0.76306	T	0.104567	0.41425	T	-0.107445	0.35191	T	0.067339	0.74732	D	0.0998188480734825	0.12338	T	0.951605	0.81505	D	0.76909184	0.81994	0.4571821	0.68453	0.76909184	0.81995	0.4571821	0.68454	-5.782	0.44417	T	.	.	0.694	0.75282	P	.;.;.;.	.;.;.;.	3.910674	0.57033	23.8	0.99828437966806061	0.91026	0.99042	0.90377	D	AEFBI	0.855138	0.77223	D	0.759547074912791	0.83524	8.040	0.754815842226318	0.86515	8.914408	0.999998722295683	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.537000	0.80946	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.299	0.90099	40	0.97949	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2514.83	34	chr17	61869976	.	C	G	2514.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.69;DP=785;ExcessHet=0.119;FS=4.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.065;SOR=0.999	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	17	0	2	0
chr17	61907534	61907534	A	G	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon8:c.T1055C:p.V352A,INTS2:NM_001351695:exon8:c.T1055C:p.V352A,INTS2:NM_020748:exon8:c.T1079C:p.V360A	.	429	1089	4	0	0	4	0.00183318	.	.	.	3213965	INTS2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00609781199416	0.0011	0.000399361	0.0026	0.0004	0.0007	0	0.0006	0.0031	0.0044	0.0047	0.0014489	224	154602	rs61752320	0.0021	0.0021	0.0020	0.0021	0.0036	0.0020	0.0020	0.0033	0.0032	0.0003	0.0004	0.0005	0	0.0006	0.0016	0.0022	0.0023	0.0036	0.0012	0.0012	0.0015	0.0010	0.0025	0.0011	0.0010	0.0016	0.0015	0.0003	0.0230	0.0004	0.0003	0	0.0006	0	0.0019	0.0014	0.0025	0.63	0.05152	T	0.746	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	0.000364	0.45194	N	0.230439	0.715033	0.29977	N	-0.41	0.02942	N	0.99	0.41750	T	0.03	0.06612	N	0.236	0.26596	-1.0322	0.19745	T	0.048	0.20355	T	9	0.0035102963	0.00063	T	0.006098	0.15964	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.2438222657411393	0.24296	0.309053041831	0.33220	0.38191139698	0.22527	T	0.036066	0.23962	T	-0.53959	0.00337	T	-0.548699	0.17451	T	0.0107287930164091	0.00151	T	0.666133	0.27528	T	0.0745834	0.16748	0.05934711	0.11122	0.0745834	0.16748	0.05934711	0.11121	-3.475	0.16084	T	.	.	0.062	0.01348	B	.;.;.;.	.;.;.;.	1.557395	0.19955	14.52	0.79595439009755076	0.12813	0.53585	0.29407	D	AEFDBI	0.077339	0.15579	N	-0.433659429485219	0.24298	1.310953	-0.234872148994616	0.30297	1.704571	0.00536507739986158	0.10916	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	2.43	0.28797	2.663000	0.46440	1.354000	0.25830	0.756000	0.94297	1.000000	0.71638	0.125000	0.22942	0.997000	0.79791	0.6588:0.0:0.3412:0.0	9.313	0.37077	39	0.97975	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1675.33	34	chr17	61907534	.	A	G	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=733;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.484;SOR=0.475	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:40,24:64:60:60,0,444	8	0	11	0
chr17	61968034	61968034	C	A	splicing	MED13	NM_005121:exon18:c.4191+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456739	0.92777	D	0.418298	0.92688	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.387992	0.95128	34	0.99434305550024649	0.64423	0.99019	0.90044	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	691.29	68	chr17	61968034	.	C	A	691.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/0:40,0:64:60:60,167,672	14	0	5	0
chr17	62010836	62010836	A	G	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon9:c.T1681C:p.Y561H	.	422	1095	5	0	0	5	0.0022779	.	.	.	3212295	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.373	0.0766067936641	8.3e-05	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs373796910	0.0002	0.0002	0.0001	0.0002	0.0033	0.0002	0.0001	0.0022	0.0018	0	8.944e-05	0	0	0	0.0033	5.306e-05	0.0004	0.0016	0.0001	0.0001	0.0001	0.0001	0.0012	8.162e-05	6.719e-05	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0	7.349e-05	0.0009	0.0012	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000006	0.62929	D	0.110970	0.999984	0.54805	D	2.165	0.60562	M	-0.91	0.75001	T	-1.41	0.34795	N	0.774	0.77132	-0.1546	0.78803	T	0.504	0.81295	D	10	0.25547162	0.42940	T	0.076607	0.72573	D	0.373	0.69188	.	.	0.424463159835	0.42065	0.4099128670844817	0.40907	0.840773140511	0.68051	0.792129397392	0.80767	T	0.225351	0.59005	T	-0.297553	0.08893	T	-0.219205	0.52814	T	0.0935145069661999	0.11628	T	0.929307	0.73951	D	0.12230217	0.28743	0.109002374	0.26264	0.12230217	0.28743	0.109002374	0.26263	-3.262	0.13252	T	.	.	0.322	0.54653	B	.	.	4.597109	0.72769	25.9	0.95017384593321652	0.25998	0.98965	0.89272	D	AEDGBI	0.855953	0.77312	D	0.264548452038356	0.54362	3.601987	0.332133515729618	0.57437	3.909442	0.862688314009017	0.25256	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	4.94	0.64645	8.185000	0.89651	9.290000	0.79784	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9337:0.0:0.0663:0.0	12.221	0.53745	233	0.90919	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2122.33	34	chr17	62010836	.	A	G	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.37;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.367;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	18	0	1	0
chr17	62033864	62033864	A	C	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon5:c.T737G:p.L246W	.	422	1098	2	0	0	2	0.000909918	.	.	.	704270	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0040	0.00479233	0.0017	0.0141	0.0023	0	0	0.0006	0.0022	6.058e-05	0.0017464	270	154602	rs144337667	0.0010	0.0010	0.0010	0.0009	0.0174	0.0009	0.0009	0.0162	0.0157	0.0174	0.0028	0.0037	0	0	0.0085	0.0004	0.0024	9.275e-05	0.0048	0.0048	0.0052	0.0043	0.0147	0.0045	0.0044	0.0137	0.0134	0.0147	0	0.0024	0.0032	0	0	0.0068	0.0007	0.0090	0.0002	0.057	0.37966	T	0.024	0.56640	D	0.999	0.77913	D	0.969	0.72001	D	0.001578	0.38612	N	0.229596	0.790808	0.34384	D	1.355	0.33814	L	-0.86	0.74477	T	-1.73	0.41046	N	0.531	0.55972	-0.2725	0.75744	T	0.254	0.62439	T	10	0.009712249	0.00218	T	.	.	.	0.249	0.55752	.	.	0.422872527889	0.41901	0.2675169830593967	0.26664	0.921292065219	0.71464	0.64195305109	0.58842	T	0.280119	0.65282	T	-0.342054	0.05247	T	-0.25179	0.49639	T	0.0279277013907083	0.01677	T	0.80392	0.45144	T	0.05698189	0.11281	0.11220809	0.27073	0.05698189	0.11281	0.11220809	0.27072	-6.23	0.48165	T	.	.	0.124	0.26106	B	.	.	4.138412	0.61982	24.4	0.95948479555359367	0.28264	0.95408	0.64603	D	AEFGBI	0.647418	0.62260	D	0.414633758102731	0.62227	4.435156	0.428008123406892	0.63316	4.562949	0.102715419208174	0.16424	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	4.48	0.53973	4.976000	0.63501	6.244000	0.55301	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9284:0.0:0.0716:0.0	11.261	0.48315	366	0.84579	Mediator complex, subunit Med13, N-terminal, metazoa/fungi	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.010101	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1242.33	34	chr17	62033864	.	A	C	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=779;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.464;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	62690670	62690670	T	G	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon27:c.T3921G:p.D1307E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0193579585971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0068	0.0009	0.0008	0.0012	0.0008	0.0008	0.0009	0.0009	0.0012	4.518e-05	0.0006	0.0008	0.0007	0.0007	0.0010	0.0009	0.0004	9.889e-05	0.0002	6.449e-05	0.0001	0.0002	6.026e-05	4.895e-05	1.174e-05	6.26e-06	4.824e-05	0	0	0.0003	0	0.0007	0	4.423e-05	0.0005	0.0002	0.048	0.40068	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999509	0.47320	D	2.81	0.81869	M	3.0	0.09167	T	-2.97	0.66549	D	0.849	0.84505	-1.1741	0.00464	T	0.061	0.25492	T	10	0.72397023	0.73849	D	0.019358	0.41701	T	0.232	0.53354	0.483	0.56462	0.428715581845	0.42488	.	.	1.15799816687	0.79397	0.736789047718	0.72500	T	0.405926	0.76197	T	0.0258373	0.55166	T	-0.200663	0.54583	T	0.973690986633301	0.70201	D	0.846715	0.59112	T	0.29941264	0.52852	0.21828814	0.46526	0.29941264	0.52852	0.21828814	0.46525	-7.989	0.60995	D	.	.	0.919	0.89526	P	.;.	.;.	2.655123	0.34581	19.67	0.9968236515417197	0.79373	0.85433	0.44565	D	AEFGBCI	0.381513	0.46375	N	0.140216072168827	0.48348	3.048304	-0.00496942780266157	0.39489	2.342258	0.0103205973577625	0.12004	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.13	0.718	0.17356	0.349000	0.19801	-1.379000	0.05578	0.580000	0.29708	0.998000	0.41325	0.001000	0.17328	0.751000	0.35822	0.0:0.2367:0.0:0.7633	7.917	0.28985	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	39	chr17	62690670	.	T	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.887;DP=789;ExcessHet=0;FS=37.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.323;SOR=5.549	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr17	63477132	63477132	-	GCTGCC	exonic	ACE	.	nonframeshift insertion	ACE:NM_000789:exon1:c.38_39insGCTGCC:p.L18_L19insPL	Renal tubular dysgenesis, Autosomal recessive	0	222	3	1	0	5	0.0111359	.	.	.	346691	not_provided|Renal_tubular_dysgenesis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0601	0.0116	0.0208	0	0	0.0012	0.0323	0.0777	0.002445	378	154602	rs532691783	0.0055	0.0055	0.0045	0.0066	0.0466	0.0054	0.0054	0.0452	0.0446	0.0233	0.0026	0	0.0010	0.0005	0.0097	0.0028	0.0066	0.0466	0.0097	0.0098	0.0091	0.0105	0.0597	0.0093	0.0092	0.0541	0.0518	0.0204	0	0.0077	0	0.0035	0.0002	0.0103	0.0024	0.0186	0.0597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	771.29	35	chr17	63477132	.	T	TGCTGCC	771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.579;DP=676;ExcessHet=0;FS=2.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.623;SOR=0.327	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1057	18	0	1	0
chr17	63543595	63543595	C	T	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon10:c.C2168T:p.S723L,KCNH6:NM_001278920:exon10:c.C1799T:p.S600L,KCNH6:NM_030779:exon10:c.C2168T:p.S723L,KCNH6:NM_173092:exon11:c.C2009T:p.S670L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	.	7.7e-05	0.00339457	0.0011	0.0004	0.0110	0.0001	0	4.544e-05	0	0	0.0012484	193	154602	rs188290086	0.0005	0.0005	0.0005	0.0004	0.0132	0.0004	0.0004	0.0124	0.0120	0.0001	0.0132	0	5.038e-05	0	0	1.441e-05	0.0010	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0093	0.0010	0.0009	0.0080	0.0076	0.0004	0	0.0093	0	0.0006	0	0	2.942e-05	0.0038	0	0.074	0.34621	T	0.322	0.19188	T	0.02	0.18235	B	0.018	0.19653	B	0.535173	0.05281	N	1.405630	0.63961	0.32864	D	1.525	0.38595	L	-5.62	0.99236	D	-0.8	0.22078	N	0.31	0.35727	0.632	0.92319	D	0.863	0.95455	D	10	0.005535394	0.00122	T	.	.	.	0.408	0.72022	.	.	0.664151795403	0.66133	0.764252724592283	0.76373	0.144701793676	0.16347	0.343998432159	0.17035	T	0.088103	0.38086	T	-0.261192	0.12760	T	-0.136929	0.60384	T	0.00783053315421622	0.00092	T	0.641436	0.25361	T	0.051494453	0.09466	0.063912176	0.12730	0.051494453	0.09466	0.063912176	0.12729	-3.527	0.16812	T	.	.	0.111	0.21578	B	.;.;.;.	.;.;.;.	3.277526	0.44896	22.0	0.98226996251806664	0.39351	0.83292	0.42421	D	AEFGBI	0.267599	0.38427	N	-0.498252333255963	0.22137	1.179978	-0.388176240632909	0.25349	1.393463	0.997365415191968	0.35541	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	4.92	2.94	0.33188	1.316000	0.33226	2.806000	0.34880	-0.171000	0.11205	0.529000	0.27181	1.000000	0.68203	0.267000	0.23694	0.0:0.8128:0.0:0.1872	8.139	0.30234	869	0.31655	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1120.33	33	chr17	63543595	.	C	T	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=749;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.954;SOR=0.55	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D,KCNH6:NM_001278920:exon12:c.C2120A:p.A707D,KCNH6:NM_030779:exon13:c.C2597A:p.A866D,KCNH6:NM_173092:exon13:c.C2330A:p.A777D	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1064.33	33	chr17	63545170	.	C	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.312;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.51;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	18	0	1	0
chr17	63688807	63688807	A	G	exonic	MAP3K3	.	nonsynonymous SNV	MAP3K3:NM_001330431:exon10:c.A785G:p.Y262C,MAP3K3:NM_002401:exon10:c.A797G:p.Y266C,MAP3K3:NM_001363768:exon11:c.A878G:p.Y293C,MAP3K3:NM_203351:exon11:c.A890G:p.Y297C	.	425	1093	3	1	0	5	0.00228206	.	.	.	3700137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0153317638561	.	.	6.591e-05	0	0	0	0	5.996e-05	0	0.0002	5.17e-05	8	154602	rs771693753	3.626e-05	3.625e-05	2.587e-05	4.676e-05	0.0024	2.829e-05	2.565e-05	0.0015	0.0012	0	0	0	0	0	0.0024	8.995e-06	0.0002	0.0002	6.569e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.254	0.17014	T	0.227	0.25987	T	0.0	0.07471	B	0.003	0.08700	B	0.000982	0.40743	N	0.255069	0.999985	0.54805	D	1.32	0.33002	L	0.82	0.48142	T	-1.83	0.42957	N	0.316	0.40864	-1.0840	0.06591	T	0.077	0.30798	T	10	0.12646791	0.24042	T	0.015332	0.35999	T	0.080	0.23350	.	.	0.494013581214	0.49034	0.5444416483124024	0.54370	0.883692856814	0.69870	0.685586452484	0.65071	T	0.036325	0.76942	T	-0.305459	0.08155	T	-0.402248	0.33123	T	0.0469860731213603	0.04962	T	0.859714	0.56210	D	0.0835687	0.19303	0.060504854	0.11532	0.0835687	0.19302	0.060504854	0.11531	-5.184	0.39983	T	.	.	0.056	0.01786	B	.;.;.;.;.	.;.;.;.;.	2.538890	0.32839	19.16	0.93697960863420204	0.23608	0.75942	0.37210	D	AEFDGBHCI	0.345854	0.44087	N	-0.348799145491302	0.27315	1.497729	-0.209078040107575	0.31209	1.764099	0.97333154773186	0.29446	0.77792	0.99625	0	0.854111	0.99885	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	0.947	0.18680	2.786000	0.47479	2.612000	0.33583	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.6172:0.1228:0.26:0.0	6.214	0.19860	891	0.26808	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1564.33	33	chr17	63688807	.	A	G	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.333;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.421;SOR=0.751	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.02632	554.33	33	chr17	63699057	.	C	T	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=517;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.04;SOR=0.377	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	18	0	1	0
chr17	63838644	63838644	C	G	exonic	SMARCD2	.	nonsynonymous SNV	SMARCD2:NM_001330440:exon1:c.G38C:p.W13S	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0117318364973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.449e-07	2.052e-06	0	1.513e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.788e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.403	0.14865	T	0.89	0.48942	P	0.607	0.51000	P	.	.	.	.	0.999999	0.20694	N	.	.	.	1.08	0.39401	T	0.94	0.01529	N	0.449	0.48689	-1.0525	0.13709	T	0.099	0.36856	T	8	0.18052217	0.33240	T	0.011732	0.29644	T	0.093	0.26882	0.101	0.01536	0.110392049598	0.10638	.	.	.	.	.	.	.	.	.	.	-0.182011	0.23436	T	-0.499222	0.22427	T	0.184633139936623	0.19522	T	0.281772	0.04941	T	.	.	.	.	.	.	.	.	-2.067	0.03445	T	.	.	0.080	0.07650	B	.	.	1.720652	0.21908	15.40	0.74802346819741927	0.10833	0.17557	0.19888	N	AEFDBHCIJ	0.104171	0.20850	N	-0.440192890361603	0.24073	1.297328	-0.63737719135243	0.18536	0.9906161	0.999999999995315	0.74766	0.50284	0.20314	0	0.587265	0.34161	0	0.338622	0.05889	2	0.645665	0.59343	0	.	.	2.78	1.8	0.24069	1.615000	0.36533	1.054000	0.23662	0.517000	0.23534	0.021000	0.19753	0.868000	0.27561	0.014000	0.10232	0.0:0.8433:0.0:0.1566	5.490	0.16061	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	34	chr17	63838644	.	C	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=703;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.771;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.05263	2148.83	33	chr17	63872555	.	C	T	2148.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=1095;ExcessHet=0.119;FS=2.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.44;MQRankSum=-3.111;QD=4.61;ReadPosRankSum=0.922;SOR=0.921	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,103,1620	17	0	2	0
chr17	63880507	63880507	A	G	exonic	GH2	.	nonsynonymous SNV	GH2:NM_022557:exon4:c.T721C:p.W241R,GH2:NM_022558:exon5:c.T464C:p.M155T	.	0	1506	15	1	0	17	0.00561241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0264370591706	0.0015	0.00119808	0.0032	0	0.0005	0	0.0095	0.0030	0.0044	0.0070	0.0028913	447	154602	rs61764020	0.0023	0.0023	0.0020	0.0026	0.0071	0.0022	0.0022	0.0067	0.0065	0.0002	0.0002	0.0016	0	0.0122	0.0043	0.0017	0.0019	0.0071	0.0027	0.0027	0.0021	0.0033	0.0044	0.0025	0.0024	0.0029	0.0026	0.0002	0	0.0006	0.0006	0	0.0145	0.0068	0.0031	0.0028	0.0044	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.46	0.88924	D	-0.18	0.09796	N	0.144	0.14480	-0.7783	0.56398	T	0.326	0.69470	T	8	0.004633844	0.00097	T	0.026437	0.49346	D	0.255	0.56562	0.417	0.45709	0.337868961071	0.33390	0.232146659423837	0.23129	0.102394651726	0.11590	0.369934737682	0.20822	T	.	.	.	-0.480942	0.00730	T	-0.460726	0.26521	T	0.00783980622075071	0.00092	T	0.155684	0.01361	T	.	.	.	.	.	.	.	.	-2.153	0.03818	T	.	.	0.159	0.35140	B	.	.	-0.867574	0.00981	0.039	0.69038374815443504	0.08845	0.02320	0.06650	N	AEFDBI	0.019037	0.00627	N	-1.06781481658037	0.07243	0.3358606	-1.07281189044129	0.08238	0.4041939	1.20928768109436E-4	0.05269	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.74	-1.33	0.08693	-2.120000	0.01410	-8.864000	0.00902	-1.374000	0.01167	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.5473:0.0:0.4527:0.0	8.059	0.29784	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003950	0.006173	0.000000	0.004274	0.000000	0.008621	0.006711	0.008000	0.02632	2612.33	234	chr17	63880507	.	A	G	2612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.681;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	239.62	33	chr17	63941038	.	C	G	239.62	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-5.535;DP=3325;ExcessHet=0.3672;FS=296.962;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.198;SOR=11.144	GT:AD:DP:GQ:PL	0/0:142,52:220:35:0,35,3172	12	0	3	4
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	1	1503	17	1	0	19	0.00628099	.	.	.	339683	Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	1406.33	33	chr17	63964507	.	C	T	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744;DP=745;ExcessHet=0;FS=1.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.209;SOR=0.913	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1153	18	0	1	0
chr17	63972389	63972389	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.G355A:p.V119I	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	345424	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Paramyotonia_congenita_of_Von_Eulenburg|Familial_hyperkalemic_periodic_paralysis|Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_1|not_specified|not_provided	MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.229	0.0147987355601	0.0030	0.00119808	0.0026	0.0003	0.0003	0.0001	0.0015	0.0041	0	0.0015	0.0025938	401	154602	rs41280110	0.0029	0.0029	0.0030	0.0029	0.0034	0.0029	0.0028	0.0033	0.0033	0.0005	0.0008	0.0002	2.519e-05	0.0020	0.0021	0.0034	0.0028	0.0018	0.0023	0.0023	0.0023	0.0023	0.0038	0.0021	0.0020	0.0034	0.0033	0.0006	0.0033	0.0019	0.0003	0	0.0017	0.0034	0.0038	0.0005	0.0014	0.367	0.11659	T	0.105	0.38016	T	0.0	0.02946	B	0.001	0.04355	B	0.387199	0.04456	N	1.351180	1	0.08975	N	-1.245	0.00777	N	-3.85	0.95859	D	-0.28	0.11547	N	0.106	0.09066	-0.3603	0.73254	T	0.501	0.81130	D	10	0.013251126	0.00282	T	0.014799	0.35150	T	0.229	0.52916	.	.	0.489036454283	0.48535	0.35322824583488865	0.35236	0.203998506954	0.22813	0.238887071609	0.02691	T	0.292034	0.66476	T	-0.480313	0.00736	T	-0.462447	0.26333	T	0.000779120454168625	0.00007	T	0.712529	0.32403	T	0.048998214	0.08630	0.029725162	0.01343	0.042309113	0.06394	0.0311093	0.01654	-3.925	0.22677	T	0.04421176843988806	0.00522	0.062	0.01348	B	.	.	-1.298632	0.00439	0.009	0.89363671462215311	0.18733	0.05778	0.11711	N	AEFGBCI	0.053774	0.09720	N	-1.78519706803549	0.00582	0.02508743	-1.71619705794329	0.01068	0.04792572	0.966881692333934	0.28936	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	-0.98	0.09747	-0.095000	0.11043	-9.184000	0.00855	-1.986000	0.00458	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1273:0.1785:0.4109:0.2833	2.028	0.03309	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.011364	0.05263	5595.83	42	chr17	63972389	.	C	T	5595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.19;DP=1048;ExcessHet=0.119;FS=2.858;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.529;SOR=0.848	GT:AD:DP:GQ:PL	0/1:78,84:162:99:2499,0,1928	17	0	2	0
chr17	64054814	64054814	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon14:c.G1687A:p.V563M	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00780620730148	8.1e-05	0.000599042	0.0004	0	0.0003	0.0003	0.0002	6.981e-05	0	0.0021	0.0002458	38	154602	rs369602392	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0016	0.0015	5.991e-05	0.0003	0	0.0002	3.761e-05	0.0002	7.752e-05	0.0002	0.0019	0.0001	0.0001	7.709e-05	0.0002	0.0019	7.572e-05	6.278e-05	0.0010	0.0007	7.22e-05	0	0.0002	0	0	0	0	4.41e-05	0	0.0019	0.514	0.07401	T	0.357	0.17115	T	0.074	0.24142	B	0.003	0.08700	B	0.180273	0.17122	N	0.635409	1	0.08975	N	-0.205	0.04094	N	0.16	0.60610	T	0.29	0.04161	N	0.226	0.25377	-1.0818	0.07003	T	0.065	0.26913	T	10	0.009949684	0.00223	T	0.007806	0.20720	T	0.043	0.11576	.	.	0.31506500091	0.31122	0.13695969931552174	0.13619	0.423274938894	0.42795	0.436030179262	0.30034	T	0.073223	0.34645	T	-0.538795	0.00341	T	-0.582096	0.14359	T	0.0158014437345499	0.00369	T	0.0173983	0.00096	T	0.16862248	0.37330	0.09700323	0.23072	0.16862248	0.37330	0.09700323	0.23071	-3.396	0.15003	T	.	.	0.059	0.00730	B	.	.	1.638695	0.20919	14.97	0.53802728675152145	0.05011	0.23320	0.22038	N	AEFDBI	0.047127	0.07902	N	-1.27077660288799	0.04032	0.1812331	-1.13372050444516	0.07064	0.3422216	0.0249528128090137	0.13615	0.562547	0.31514	0	0.577304	0.33150	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.36	-1.8	0.07480	0.551000	0.23068	-0.086000	0.12117	-1.762000	0.00675	0.995000	0.38783	0.865000	0.27529	0.864000	0.41028	0.1185:0.3586:0.1218:0.4011	2.771	0.05006	827	0.39843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	34	chr17	64054814	.	C	T	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=704;ExcessHet=0;FS=4.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.137;SOR=0.732	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1227	18	0	1	0
chr17	64363155	64363155	C	T	exonic	PECAM1	.	nonsynonymous SNV	PECAM1:NM_000442:exon6:c.G1210A:p.V404I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs996876302	0.0001	7.157e-05	9.707e-05	0.0002	0.0012	9.531e-05	8.485e-05	0.0007	0.0005	0.0001	0	0	0	0	0.0007	0.0001	0.0002	0.0012	6.565e-05	6.562e-05	7.709e-05	5.37e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0.0010	0.057	0.37966	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	-0.88	0.23808	N	0.279	0.31590	.	.	.	.	.	.	.	0.30003756	0.47553	T	.	.	.	.	.	.	.	.	.	0.2939318377310535	0.29306	.	.	.	.	.	0.042333	0.26149	T	.	.	.	.	.	.	.	.	.	0.70083	0.31049	T	.	.	.	.	.	.	.	.	-3.241	0.12988	T	.	.	0.112	0.21987	B	.	.	4.247749	0.64452	24.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.035000	0.57007	7.602000	0.61596	0.581000	0.30040	0.993000	0.37899	1.000000	0.68203	0.069000	0.16583	.	.	.	934	0.15400	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	133	chr17	64363155	.	C	T	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=868;ExcessHet=0;FS=8.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.387;SOR=1.421	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1343	18	0	1	0
chr17	64457612	64457612	T	A	exonic	MILR1	.	nonsynonymous SNV	MILR1:NM_001291317:exon3:c.T310A:p.Y104N,MILR1:NM_001085423:exon4:c.T580A:p.Y194N,MILR1:NM_001369493:exon4:c.T580A:p.Y194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	0.81459	.	.	.	.	.	.	.	0.86498326	0.85737	D	.	.	.	.	.	.	.	.	.	0.4936037400807583	0.49281	.	.	.	.	.	0.491962	0.81612	T	.	.	.	.	.	.	.	.	.	0.852615	0.53799	D	.	.	.	.	.	.	.	.	-7.281	0.60469	T	0.8230171987478151	0.89560	0.806	0.78883	P	.;.;.	.;.;.	2.778758	0.36494	20.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.263000	0.32606	2.261000	0.31761	-0.120000	0.14102	0.090000	0.22578	0.474000	0.25067	0.001000	0.02609	.	.	.	935	0.14827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3009.33	219	chr17	64457612	.	T	A	3009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.5;DP=843;ExcessHet=0;FS=3.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.048;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V,GNA13:NM_006572:exon2:c.A445G:p.I149V	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1612.33	33	chr17	65053567	.	T	C	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.304;DP=734;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.981;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	18	0	1	0
chr17	65193569	65193569	C	T	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon12:c.C764T:p.S255L,RGS9:NM_001165933:exon12:c.C764T:p.S255L,RGS9:NM_003835:exon12:c.C773T:p.S258L	Bradyopsia	0	1453	66	3	0	72	0.0241773	.	.	.	177291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0013	0.0161741	0.0095	0.0006	0.0046	0.0310	0.0112	0.0027	0.0144	0.0337	0.0085898	1328	154602	rs12452285	0.0052	0.0052	0.0043	0.0060	0.0402	0.0051	0.0050	0.0386	0.0379	0.0004	0.0041	0.0078	0.0402	0.0092	0.0208	0.0014	0.0075	0.0342	0.0050	0.0051	0.0042	0.0060	0.0338	0.0048	0.0046	0.0297	0.0281	0.0003	0	0.0069	0.0084	0.0338	0.0106	0.0306	0.0021	0.0104	0.0330	0.533	0.07140	T	0.364	0.16766	T	0.004	0.12996	B	0.005	0.13708	B	0.894996	0.08660	N	0.956108	1	0.08975	N	-0.245	0.03879	N	1.77	0.25841	T	-1.88	0.44284	N	0.139	0.13769	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0018083751	0.00024	T	.	.	.	0.008	0.00669	.	.	0.295623431141	0.29171	0.40981414253841425	0.40897	0.163159783007	0.18410	0.422357261181	0.28161	T	0.022342	0.63366	T	-0.666907	0.00057	T	-0.70498	0.05558	T	0.00227030650160815	0.00024	T	0.743826	0.36376	T	0.06679562	0.14405	0.053073827	0.08868	0.06560212	0.14035	0.06338211	0.12547	-5.984	0.47125	T	0.055369267226966966	0.01226	0.051	0.00199	B	.;.;.;.	.;.;.;.	0.374779	0.07468	4.108	0.80115924886704315	0.13052	0.01742	0.05496	N	AEFDGBHCI	0.041638	0.06357	N	-1.25891773679573	0.04184	0.1883233	-1.2419042002241	0.05252	0.2498028	0.999989128191357	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.83	-2.42	0.06164	-0.773000	0.04795	-0.240000	0.10600	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.114:0.2403:0.112:0.5337	3.740	0.08054	403	0.82567	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;.;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.028730	0.010101	0.020380	0.040936	0.000000	0.034483	0.027607	0.045455	0.02632	1374.33	33	chr17	65193569	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=745;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-2.483;SOR=1.037	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr17	66053863	66053863	G	C	exonic	CEP112	.	nonsynonymous SNV	CEP112:NM_001302891:exon10:c.C965G:p.A322G,CEP112:NM_001353128:exon10:c.C965G:p.A322G,CEP112:NM_001199165:exon12:c.C1091G:p.A364G,CEP112:NM_001353127:exon12:c.C1091G:p.A364G,CEP112:NM_001353129:exon12:c.C1094G:p.A365G	.	477	1027	18	0	0	18	0.00868726	.	.	.	2808221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0217798691528	0.0060	0.00299521	0.0056	0.0014	0.0061	0	0.0056	0.0080	0.0033	0.0010	0.0056079	867	154602	rs146009782	0.0069	0.0069	0.0070	0.0068	0.0129	0.0068	0.0068	0.0106	0.0097	0.0013	0.0070	0.0019	0	0.0065	0.0129	0.0079	0.0068	0.0015	0.0057	0.0057	0.0056	0.0058	0.0099	0.0054	0.0053	0.0086	0.0082	0.0015	0	0.0099	0.0055	0	0.0071	0.0204	0.0078	0.0076	0.0014	0.013	0.53900	D	0.031	0.59159	D	0.999	0.77913	D	0.972	0.72692	D	0.000001	0.62929	D	0.055397	0.999768	0.81001	D	2.125	0.59049	M	0.53	0.55090	T	-2.63	0.56466	D	0.346	0.45237	-0.5079	0.68363	T	0.277	0.64835	T	10	0.0069506466	0.00158	T	0.02178	0.44594	T	0.236	0.53931	.	.	0.471052466308	0.46733	0.13976758570052136	0.13899	0.444578749256	0.44359	0.517616271973	0.41291	T	0.300982	0.67345	T	-0.321225	0.06798	T	-0.224799	0.52274	T	0.00988335349574117	0.00131	T	0.948405	0.80130	D	0.50300413	0.67271	0.5428762	0.73579	0.50300413	0.67272	0.5428762	0.73579	-11.832	0.84023	D	.	.	0.319	0.56198	B	.;.;.;.	.;.;.;.	5.327992	0.89421	30	0.99805542343574727	0.88995	0.98772	0.86654	D	AEFBI	0.882493	0.81064	D	0.870498040417164	0.90241	10.31556	0.864633476596704	0.93842	12.31815	0.999999977312744	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	8.829000	0.91674	9.630000	0.81124	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.965	0.97263	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.028533	0.017544	0.100000	0.008621	0.009146	0.007576	0.05263	3462.81	33	chr17	66053863	.	G	C	3462.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.11;SOR=0.984	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	1	0	0
chr17	67109247	67109247	T	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4361C:p.Q1454P,HELZ:NM_014877:exon29:c.A4358C:p.Q1453P	.	432	1070	19	1	0	21	0.00971772	.	.	.	3547075	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.141	0.0533471789961	0.0022	0.000798722	0.0031	0.0004	0.0048	0	0	0.0044	0.0044	0.0008	0.0028331	438	154602	rs200486206	0.0023	0.0023	0.0023	0.0024	0.0286	0.0023	0.0022	0.0251	0.0237	0.0014	0.0047	0.0456	0	0	0.0286	0.0012	0.0063	0.0011	0.0029	0.0029	0.0028	0.0030	0.0063	0.0027	0.0026	0.0053	0.0049	0.0004	0	0.0063	0.0452	0	0	0.0136	0.0020	0.0133	0.0006	0.403	0.10378	T	0.16	0.31427	T	0.0	0.02946	B	0.0	0.01387	B	0.125400	0.18844	N	0.586313	0.939514	0.26833	N	0.55	0.14455	N	-1.65	0.82625	D	0.15	0.05310	N	0.258	0.29774	-0.8856	0.49307	T	0.185	0.53436	T	10	0.003847301	0.00073	T	0.053347	0.65431	D	0.141	0.37795	.	.	0.182106788282	0.17826	0.12000937366773848	0.11927	0.199647858005	0.22366	0.377299427986	0.21872	T	0.046825	0.27539	T	-0.373561	0.03418	T	-0.307037	0.43977	T	0.00676942539424807	0.00076	T	0.725927	0.34027	T	0.043905076	0.06924	0.08426442	0.19370	0.06797795	0.14768	0.100794375	0.24111	-2.667	0.07030	T	.	.	0.066	0.08899	B	.;.	.;.	1.652874	0.21087	15.04	0.91971265482899434	0.21301	0.75661	0.37057	D	AEFDGBIJ	0.162986	0.28922	N	-0.518538489684839	0.21480	1.140282	-0.322269548668815	0.27380	1.518927	0.999995072417583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	2.9	0.32809	0.722000	0.25595	0.161000	0.15406	0.568000	0.28809	0.999000	0.42656	0.939000	0.28734	0.997000	0.79791	0.1339:0.0:0.2792:0.5868	7.480	0.26567	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.027190	0.040404	0.047554	0.032164	0.000000	0.034483	0.003049	0.000000	0.02632	1067.33	42	chr17	67109247	.	T	G	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=719;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.712;SOR=0.888	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1081,0,1052	18	0	1	0
chr17	67149904	67149904	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon19:c.A2441G:p.Q814R,HELZ:NM_014877:exon19:c.A2438G:p.Q813R	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0250306655257	.	.	5.804e-05	0	0	0	0	7.499e-05	0	0.0001	5.17e-05	8	154602	rs767377617	5.209e-05	5.336e-05	4.229e-05	6.2e-05	0.0002	4.167e-05	3.896e-05	8.923e-05	7.082e-05	0	0	0	0	0	0.0002	5.223e-05	6.642e-05	0.0002	3.941e-05	3.937e-05	0	8.061e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0002	0.152	0.24468	T	0.385	0.15794	T	0.001	0.07471	B	0.002	0.06944	B	0.000063	0.52346	N	0.222227	1.000	0.19694	N	-0.755	0.01709	N	-1.48	0.81150	T	-0.74	0.20791	N	0.142	0.14196	-0.9351	0.43379	T	0.175	0.51864	T	10	0.0736323	0.11150	T	0.025031	0.48012	D	0.233	0.53499	0.519	0.62066	0.165150595986	0.16160	0.36237426460266037	0.36151	0.704514309362	0.61332	0.304021596909	0.11004	T	0.170655	0.55255	T	-0.263534	0.12489	T	-0.412725	0.31912	T	0.0579306546308868	0.06839	T	0.762524	0.38803	T	0.06408758	0.13562	0.09270306	0.21862	0.06408758	0.13562	0.09270306	0.21861	-3.36	0.14523	T	.	.	0.059	0.00834	B	.;.	.;.	1.925397	0.24457	16.40	0.8964788649742248	0.18978	0.89739	0.50399	D	AEFDBHI	0.110679	0.21939	N	-0.643088578463794	0.17662	0.9107417	-0.456830687448037	0.23355	1.273213	0.993444542392989	0.33218	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.91	2.48	0.29194	3.193000	0.50698	2.068000	0.30429	0.609000	0.47794	0.999000	0.42656	0.139000	0.23074	0.997000	0.79791	0.0:0.1336:0.134:0.7325	7.276	0.25458	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1299.33	34	chr17	67149904	.	T	C	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=705;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.44;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1021	18	0	1	0
chr17	67692697	67692697	A	G	exonic	PITPNC1	.	nonsynonymous SNV	PITPNC1:NM_012417:exon9:c.A808G:p.S270G	.	425	1095	2	0	0	2	0.000912409	.	.	.	3368883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00719003653006	.	.	0.0001	0	0	0	0	1.499e-05	0.0011	0.0007	9.06e-05	14	154602	rs778429473	7.663e-05	7.661e-05	4.493e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0007	0.0007	0	2.236e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0009	3.288e-05	3.284e-05	2.571e-05	4.038e-05	0.0006	1.262e-05	7.98e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	.	.	.	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000014	0.62929	D	0.178401	0.989563	0.81001	D	1.295	0.32453	L	0.73	0.50721	T	.	.	.	0.168	0.17828	-1.0554	0.12934	T	0.068	0.27811	T	10	0.041391283	0.02790	T	0.00719	0.19061	T	.	.	0.201	0.11522	0.151262610727	0.14761	0.4965256506311141	0.49573	0.586081728629	0.54225	0.465904027224	0.34119	T	0.01324	0.11486	T	-0.446194	0.01189	T	-0.486508	0.23758	T	0.121741172166551	0.14599	T	0.792121	0.43364	T	0.10483082	0.24783	0.20736174	0.44991	0.10483082	0.24782	0.20736174	0.44990	-7.869	0.60174	D	.	.	0.063	0.01428	B	.	.	3.334618	0.45925	22.2	0.96320008337444596	0.29410	0.97817	0.77351	D	AEFGBI	0.903217	0.85203	D	-0.179250484696181	0.33999	1.935427	0.035507031932653	0.41375	2.484804	0.942268721866049	0.27514	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.223000	0.77520	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.9277:0.0:0.0723:0.0	10.406	0.43440	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2055.33	34	chr17	67692697	.	A	G	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.048;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	18	0	1	0
chr17	67903898	67903898	A	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon8:c.A2653T:p.T885S,BPTF:NM_004459:exon10:c.A3031T:p.T1011S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0573036023119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.133	0.35840	T	0.429	0.56768	B	0.14	0.65999	B	.	.	.	.	0.999998	0.58761	D	1.015	0.25427	L	-2.24	0.87194	D	-3.26	0.65397	D	0.516	0.59053	-0.5693	0.66042	T	0.271	0.64224	T	9	0.43407473	0.57679	T	0.057304	0.66917	D	0.223	0.52023	0.249	0.18602	0.788756000518	0.78680	0.8320815417102738	0.83167	0.931189936287	0.71820	0.83056896925	0.86649	D	0.256	0.62652	T	0.127904	0.67156	D	-0.0540506	0.66745	D	0.913227796554565	0.56941	D	0.762724	0.43953	T	0.14621572	0.33482	0.20382701	0.44478	0.14621572	0.33482	0.20382701	0.44477	-5.929	0.45682	T	.	.	0.472	0.72275	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704771	0.75520	26.3	0.98373782769981211	0.40781	0.98251	0.80941	D	AEFBI	0.852180	0.76908	D	0.36623795999835	0.59602	4.140955	0.453293109422134	0.64929	4.75976	0.642835415499457	0.22069	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.1	5.1	0.68917	7.248000	0.77702	10.960000	0.84456	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8544:0.0:0.0:0.1456	10.428	0.43579	933	0.16026	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	41	chr17	67903898	.	A	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.284;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	18	0	1	0
chr17	67912782	67912782	C	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.C4898T:p.T1633I,BPTF:NM_004459:exon13:c.C5276T:p.T1759I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0334941127918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.001	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	2.255	0.64187	M	-2.92	0.91748	D	-4.08	0.74742	D	0.524	0.57775	-0.0296	0.81639	T	0.486	0.80415	T	9	0.5545064	0.64441	D	0.033494	0.55023	D	0.378	0.69612	0.225	0.14960	0.711060249131	0.70853	0.37979973225253116	0.37894	1.11044362943	0.78041	0.729801058769	0.71477	T	0.509996	0.82657	D	0.181751	0.72205	D	0.0232963	0.71844	D	0.942528545856476	0.61679	D	0.924008	0.76101	D	0.27596837	0.50659	0.27944016	0.53912	0.27596837	0.50659	0.27944016	0.53911	-7.11	0.54832	T	.	.	0.655	0.76416	P	.;.;.;.;.;.	.;.;.;.;.;.	3.962216	0.58118	23.9	0.96786854028564873	0.31098	0.98376	0.82147	D	AEFDGBHCI	0.837429	0.75507	D	0.502692620267958	0.67247	5.056462	0.447188424697095	0.64537	4.711048	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.47	5.47	0.80345	7.840000	0.85068	4.926000	0.46086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:1.0:0.0:0.0	19.686	0.95976	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1849.33	35	chr17	67912782	.	C	T	1849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.344;DP=781;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.654;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1126	18	0	1	0
chr17	67913094	67913094	T	C	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.T5210C:p.I1737T,BPTF:NM_004459:exon13:c.T5588C:p.I1863T	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0373407228344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.098	0.41913	T	0.952	0.54136	P	0.931	0.66596	D	.	.	.	.	0.999974	0.58761	D	0.69	0.16971	N	-2.17	0.86624	D	-2.51	0.54546	D	0.802	0.79792	-0.5163	0.68054	T	0.296	0.66726	T	9	0.5275648	0.62997	D	0.037341	0.57553	D	0.386	0.70276	0.318	0.29581	0.760461648693	0.75827	0.38066254264579524	0.37981	1.20809712396	0.80753	0.84707647562	0.89172	D	0.161999	0.50648	T	0.294651	0.82536	D	0.18547	0.82310	D	0.877559304237366	0.52746	D	0.893911	0.70760	D	0.1498802	0.34148	0.24725312	0.50251	0.1498802	0.34148	0.24725312	0.50250	-7.894	0.62781	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	4.436625	0.68853	25.3	0.99635863245410683	0.76326	0.99422	0.95828	D	AEFBI	0.866992	0.78660	D	0.625882549356151	0.74817	6.19747	0.681267382947607	0.80957	7.416046	0.999999996284056	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.76	5.76	0.90726	7.928000	0.87040	7.905000	0.73745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.040	0.80470	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	33.33	35	chr17	67913094	.	T	C	33.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.659;DP=866;ExcessHet=0;FS=30.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.115;SOR=5.065	GT:AD:DP:GQ:PL	0/0:70,0:70:98:0,98,1772	18	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP,BPTF:NM_004459:exon26:c.7977_7978insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2667_P2668insAPPAPPAPP	.	428	734	271	57	32	417	0.207771	.	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	8869.61	46	chr17	67959642	.	T	TCCTCCAGCCCCTCCAGCCCCTCCAGCC	8869.61	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.371;DP=1100;ExcessHet=0.1504;FS=0.522;InbreedingCoeff=0.2083;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.32;ReadPosRankSum=-0.806;SOR=0.765	GT:AD:DP:GQ:PL	0/1:43,34:77:99:1281,0,1680	18	0	1	0
chr17	67996145	67996145	T	-	exonic	C17orf58	.	frameshift deletion	C17orf58:NM_001382359:exon1:c.54delA:p.A19Hfs*196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	64.53	.	chr17	67996144	.	CT	C	64.53	.	AC=2;AF=0.1;AN=20;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.2518;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.26;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	9	1	0	9
chr17	68273927	68273927	C	T	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon3:c.G376A:p.G126S,SLC16A6:NM_001174166:exon4:c.G376A:p.G126S	.	425	1096	1	0	0	1	0.000455996	0.9998	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.151184140946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.76	0.95097	H	-1.02	0.76300	T	-5.61	0.86686	D	0.959	0.96871	0.526	0.90914	D	0.707	0.89936	D	9	0.9863993	0.98947	D	0.151184	0.83277	D	0.784	0.92827	0.936	0.99075	0.853136913371	0.85171	0.933145208149599	0.93293	1.3263232929	0.83567	0.653946042061	0.60546	T	0.51019	0.82668	D	0.402911	0.90080	D	0.340977	0.89956	D	0.998646557331085	0.94736	D	0.940006	0.78426	D	0.8806224	0.89717	0.8459392	0.91232	0.8806224	0.89719	0.8459392	0.91232	-9.826	0.72863	D	.	.	0.658	0.76865	P	.;.;.	.;.;.	5.869775	0.93889	33	0.99853298248364974	0.93279	0.99750	0.99187	D	AEFDBI	0.969360	0.99176	D	0.851430064303803	0.89189	9.870584	0.762173015450625	0.87062	9.094721	0.999999996505598	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.8	5.8	0.92081	7.406000	0.79244	7.512000	0.59634	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:1.0:0.0:0.0	19.051	0.93028	883	0.28872	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1468.33	33	chr17	68273927	.	C	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=760;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.532;SOR=1.004	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1482,0,1471	18	0	1	0
chr17	68907835	68907835	A	G	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon16:c.T2000C:p.L667P,ABCA8:NM_001375772:exon16:c.T761C:p.L254P,ABCA8:NM_007168:exon16:c.T2063C:p.L688P,ABCA8:NM_001288986:exon17:c.T2183C:p.L728P,ABCA8:NM_001288985:exon18:c.T2183C:p.L728P	.	.	.	.	.	.	.	.	.	.	.	3685696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.655	0.0474662796847	.	.	6.794e-05	9.743e-05	8.89e-05	0	0	9.339e-05	0	0	5.82e-05	9	154602	rs752218953	3.503e-05	3.694e-05	2.868e-05	4.144e-05	0.0021	2.707e-05	2.448e-05	0.0012	0.0010	0.0002	2.28e-05	0	0	0	0.0021	2.342e-05	9.971e-05	1.187e-05	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.068112	0.21694	N	0.326219	0.969554	0.38736	D	3.91	0.96185	H	-2.36	0.88143	D	-5.91	0.89534	D	0.811	0.80669	1.021	0.97556	D	0.871	0.95725	D	10	0.46639836	0.59596	T	0.047466	0.62934	D	0.655	0.87035	0.647	0.78436	0.883709427988	0.88257	0.8326728561590938	0.83226	0.439334003021	0.43960	0.444704473019	0.31220	T	0.373307	0.74619	T	0.237338	0.77408	D	0.295479	0.87990	D	0.910380780696869	0.56560	D	0.893511	0.63097	D	0.8894376	0.90459	0.8660051	0.92590	0.8894376	0.90460	0.8660051	0.92591	-9.706	0.72133	D	.	.	0.759	0.75988	P	.;.;.	.;.;.	4.544362	0.71454	25.7	0.99888676038066659	0.96359	0.65512	0.32762	D	AEFBCI	0.892172	0.82886	D	0.641651451963141	0.75830	6.375722	0.474746313188072	0.66320	4.936947	0.99999996142376	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.9	4.9	0.63643	7.141000	0.76920	7.938000	0.75364	0.756000	0.94297	0.913000	0.31760	0.977000	0.30130	0.992000	0.67800	1.0:0.0:0.0:0.0	13.853	0.63008	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1468.33	34	chr17	68907835	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.602;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.93;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr17	68984096	68984096	C	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon35:c.G4459A:p.V1487M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.663	0.160241492565	7.7e-05	.	0.0002	0	8.639e-05	0.0001	0	1.499e-05	0.0011	0.0010	0.0001358	21	154602	rs372324484	6.977e-05	6.977e-05	4.084e-05	9.9e-05	0.0009	5.846e-05	5.457e-05	0.0007	0.0007	0	0	0	2.519e-05	0	0.0003	1.619e-05	4.967e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	0.995	0.67487	D	0.916	0.65201	D	0.001120	0.40219	N	0.000000	0.990452	0.81001	D	1.005	0.25186	L	-4.62	0.97884	D	-1.8	0.42384	N	0.651	0.66187	0.890	0.95534	D	0.896	0.96542	D	10	0.5466648	0.64022	D	0.160241	0.84028	D	0.663	0.87430	.	.	0.933465771672	0.93277	0.2401202949436094	0.23926	0.339899624421	0.35937	0.577979385853	0.49802	T	0.151801	0.49191	T	-0.106909	0.35280	T	0.0232159	0.71838	D	0.274705678224564	0.23947	T	0.837116	0.68863	T	0.12398329	0.29101	0.21077189	0.45479	0.12398329	0.29100	0.21077189	0.45478	-8.359	0.63491	D	.	.	0.174	0.44201	B	.;.	.;.	2.854856	0.37700	20.6	0.99882762512363921	0.95892	0.73462	0.35934	D	AEFBI	0.317893	0.42176	N	0.198001230188767	0.51102	3.294264	0.14582322095459	0.46921	2.930355	0.065166603884202	0.15352	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	4.86	3.88	0.43959	0.439000	0.21293	-0.845000	0.07201	0.599000	0.40250	0.039000	0.20931	0.000000	0.08366	0.282000	0.24066	0.0:0.7607:0.1565:0.0828	8.410	0.31797	956	0.09877	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2728.33	36	chr17	68984096	.	C	T	2728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=794;ExcessHet=0;FS=3.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.07;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	69008142	69008142	T	A	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon24:c.A3241T:p.I1081F	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.129866880474	0.0017	0.000199681	0.0015	0.0002	0.0041	0	0.0012	0.0018	0.0033	0	0.0013519	209	154602	rs138716502	0.0013	0.0013	0.0013	0.0013	0.0028	0.0013	0.0012	0.0024	0.0022	0.0004	0.0028	0	0	0.0007	0.0014	0.0015	0.0014	0.0001	0.0010	0.0010	0.0011	0.0010	0.0024	0.0009	0.0009	0.0017	0.0015	0.0003	0	0.0024	0	0	0.0012	0	0.0014	0.0014	0	0.063	0.36709	T	0.097	0.39190	T	0.022	0.18677	B	0.104	0.31021	B	0.000292	0.46274	D	0.000000	0.99428	0.43428	D	1.995	0.54099	M	-2.31	0.87750	D	-3.25	0.65283	D	0.383	0.42443	0.064	0.83508	D	0.577	0.84751	D	10	0.02066359	0.00480	T	0.129867	0.81196	D	0.490	0.77720	.	.	0.679174988471	0.67644	0.4908747754942679	0.49007	0.191758698941	0.21506	0.581291615963	0.50267	T	0.470496	0.80359	T	-0.255217	0.13465	T	-0.144926	0.59690	T	0.041541235756477	0.03971	T	0.561144	0.19645	T	0.20380782	0.42470	0.24177453	0.49583	0.20380782	0.42470	0.24177453	0.49582	-9.344	0.69883	D	.	.	0.140	0.30608	B	.;.	.;.	1.249019	0.16453	12.55	0.885856070434485	0.18093	0.85470	0.44605	D	AEFI	0.303499	0.41146	N	-0.190718413032921	0.33520	1.902619	-0.127543354433397	0.34283	1.97039	0.191962585463502	0.18011	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.8	4.8	0.61157	0.431000	0.21163	0.140000	0.15159	0.574000	0.29054	0.017000	0.19353	0.021000	0.20819	0.009000	0.08673	0.0:0.0:0.0:1.0	12.603	0.55862	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1067.33	35	chr17	69008142	.	T	A	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.163;DP=720;ExcessHet=0;FS=2.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.36;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chr17	69043591	69043591	G	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon6:c.C698A:p.S233Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0424895101074	.	.	2.489e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs781430409	3.149e-05	3.147e-05	3.133e-05	3.165e-05	0.0003	2.414e-05	2.159e-05	0.0002	0.0002	0	0	0	5.042e-05	0	0	1.26e-05	4.971e-05	0.0003	1.314e-05	1.313e-05	2.57e-05	0	2.407e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0	0.632	0.05121	T	0.677	0.92824	T	0.022	0.18677	B	0.085	0.29395	B	0.000450	0.44317	D	0.000000	0.685451	0.34048	D	1.435	0.35949	L	-2.25	0.87272	D	-1.61	0.38734	N	0.556	0.63628	-0.4103	0.71701	T	0.440	0.77859	T	10	0.5225413	0.62725	D	0.04249	0.60489	D	0.426	0.73372	0.669	0.80703	0.862739897216	0.86140	0.4363375542747453	0.43550	0.155294145454	0.17530	0.446879476309	0.31518	T	0.335721	0.70531	T	-0.119015	0.33286	T	-0.172065	0.57253	T	0.13708521425724	0.16021	T	0.79512	0.48674	T	0.17376791	0.38143	0.23353285	0.48544	0.17376791	0.38142	0.23353285	0.48543	-11.576	0.82724	D	.	.	0.331	0.55299	B	.;.;.	.;.;.	1.746793	0.22223	15.53	0.65081713724649459	0.07672	0.61826	0.31598	D	AEFBHCI	0.218734	0.34370	N	-0.249018648269419	0.31142	1.743329	-0.0821626511353655	0.36128	2.098573	0.176018238470101	0.17805	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.73	4.73	0.59485	1.081000	0.30402	1.220000	0.24969	0.656000	0.54149	0.997000	0.40164	0.725000	0.26378	0.897000	0.43391	0.0:0.184:0.816:0.0	11.312	0.48608	954	0.10045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	37	chr17	69043591	.	G	T	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.194;DP=754;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.02;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	18	0	1	0
chr17	69096286	69096286	C	T	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon25:c.G3362A:p.R1121H	.	495	1023	3	1	0	5	0.00243784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0143360400734	0.0007	0.000399361	0.0009	0.0004	0.0002	0.0007	0	0.0008	0.0012	0.0027	0.0007827	121	154602	rs144019394	0.0005	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0015	0.0014	0.0001	0.0002	0	0.0003	5.901e-05	0.0011	0.0005	0.0004	0.0017	0.0005	0.0005	0.0005	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0001	0	0.0009	0	0.0002	0	0.0034	0.0007	0.0009	0.0023	0.071	0.35165	T	0.054	0.47097	T	0.224	0.30397	B	0.168	0.35187	B	0.027657	0.25723	N	0.275088	0.897383	0.27768	N	2.27	0.64531	M	-2.03	0.85613	D	-3.56	0.68880	D	0.18	0.19459	-0.0775	0.80609	T	0.536	0.82825	D	10	0.012835532	0.00274	T	0.014336	0.34391	T	0.319	0.64112	.	.	0.843052881141	0.84155	0.20294062263198456	0.20211	0.0405336602796	0.04339	0.227598533034	0.01794	T	0.489561	0.81473	T	-0.414011	0.01870	T	-0.373333	0.36498	T	0.0264977275820155	0.01473	T	0.861114	0.55479	D	0.114191584	0.26961	0.09125525	0.21444	0.114191584	0.26960	0.09125525	0.21444	-5.34	0.40337	T	.	.	0.089	0.12132	B	.	.	2.676630	0.34910	19.76	0.99506991195112859	0.68381	0.60632	0.31251	D	AEFBI	0.143927	0.26676	N	-0.0661035046317299	0.38886	2.284494	-0.0417158210923587	0.37851	2.22187	0.882048462396424	0.25645	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.61	3.61	0.40494	0.702000	0.25307	1.092000	0.23989	0.594000	0.32500	0.023000	0.19925	0.820000	0.27118	0.961000	0.51904	0.0:0.865:0.0:0.135	7.034	0.24160	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	377.33	35	chr17	69096286	.	C	T	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.244;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr17	69182788	69182788	C	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon21:c.G2518C:p.V840L,ABCA10:NM_080282:exon22:c.G2518C:p.V840L	.	522	993	7	0	0	7	0.00351229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0128087649836	.	0.000599042	0.0004	0	0.0003	0	0	8.999e-05	0.0011	0.0024	0.0003493	54	154602	rs188482429	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0028	0.0026	0	0.0001	3.87e-05	0	0	0.0019	3.519e-05	0.0004	0.0031	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0001	0.0016	0.0013	2.48e-05	0	0.0001	0	0	0	0.0070	0.0002	0	0.0028	0.196	0.20683	T	0.312	0.19599	T	0.021	0.18474	B	0.025	0.20508	B	0.240550	0.15721	U	0.361104	1	0.08975	N	0.93	0.23535	L	-2.1	0.86146	D	-0.76	0.21215	N	0.185	0.20129	-0.7632	0.57231	T	0.341	0.70721	T	10	0.006010562	0.00135	T	0.012809	0.31705	T	0.065	0.18881	0.33	0.31519	0.432826170204	0.42904	0.06498734317993511	0.06437	0.0298858011307	0.03076	0.537388443947	0.44077	T	0.002965	0.02360	T	-0.483698	0.00704	T	-0.473123	0.25181	T	0.0239772091158912	0.01142	T	0.526647	0.17353	T	0.044935532	0.07269	0.054076873	0.09233	0.044935532	0.07268	0.054076873	0.09232	-7.058	0.54456	T	.	.	0.116	0.23360	B	.	.	-0.871327	0.00975	0.039	0.82167825716523346	0.14053	0.01143	0.04142	N	AEFDBI	0.070794	0.14067	N	-1.4631355057845	0.02116	0.09308005	-1.56408023043661	0.01880	0.08573741	2.15342578378227E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.96	-4.18	0.03584	-2.622000	0.00950	-8.937000	0.00891	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2073:0.1454:0.6472	6.766	0.22751	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	422.33	34	chr17	69182788	.	C	G	422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.353;SOR=0.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1033:.	18	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P,ABCA10:NM_080282:exon13:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	96.33	103	chr17	69194391	.	T	G	96.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.538;DP=1177;ExcessHet=0;FS=298.69;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.578;SOR=9.981	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	18	0	1	0
chr17	72947869	72947869	C	T	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon5:c.G313A:p.A105T,SLC39A11:NM_001352692:exon5:c.G313A:p.A105T,SLC39A11:NM_001352693:exon5:c.G313A:p.A105T,SLC39A11:NM_139177:exon5:c.G313A:p.A105T,SLC39A11:NM_001352691:exon6:c.G313A:p.A105T	.	410	1085	25	2	0	29	0.0131878	.	.	.	704337	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00374713149238	0.0046	0.00279553	0.0048	0.0002	0.0025	0.0001	0.0076	0.0061	0.0077	0.0056	0.0046118	713	154602	rs34970573	0.0055	0.0055	0.0053	0.0056	0.0104	0.0054	0.0053	0.0083	0.0075	0.0009	0.0033	0.0031	7.557e-05	0.0051	0.0104	0.0059	0.0054	0.0066	0.0041	0.0041	0.0040	0.0043	0.0066	0.0039	0.0037	0.0050	0.0048	0.0008	0.0132	0.0047	0.0049	0	0.0067	0.0102	0.0054	0.0080	0.0066	0.409	0.11370	T	0.592	0.20615	T	0.0	0.02946	B	0.003	0.11217	B	0.018991	0.27357	N	0.321572	0.990098	0.24215	N	0.39	0.12200	N	0.85	0.49642	T	-0.45	0.15178	N	0.08	0.17002	-1.0408	0.17071	T	0.051	0.21806	T	10	0.0056734085	0.00126	T	0.003747	0.08713	T	0.041	0.10877	.	.	0.250579442822	0.24687	0.34994783394434953	0.34908	0.135877012715	0.15322	0.428352326155	0.28983	T	0.004389	0.08963	T	-0.50949	0.00505	T	-0.50215	0.22125	T	0.00548680473668962	0.00060	T	.	.	.	0.02683395	0.01791	0.05228267	0.08582	0.02683395	0.01791	0.05228267	0.08581	-4.757	0.34800	T	.	.	0.069	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	2.095461	0.26658	17.19	0.90818432167118368	0.20067	0.11487	0.16666	N	AEFDBI	0.092772	0.18778	N	-0.609792764182639	0.18649	0.969904	-0.479228122868738	0.22726	1.235836	0.0110038585181278	0.12116	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.62	3.63	0.40741	0.879000	0.27783	1.702000	0.28138	0.599000	0.40250	0.081000	0.22364	0.910000	0.28117	0.918000	0.45347	0.0:0.8955:0.0:0.1045	9.146	0.36092	794	0.45591	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.009511	0.011696	0.000000	0.008621	0.012195	0.000000	0.02632	1000.33	40	chr17	72947869	.	C	T	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.758;DP=794;ExcessHet=0;FS=3.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.325;SOR=1.094	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1014,0,1052	18	0	1	0
chr17	73088754	73088754	C	A	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon2:c.G11T:p.G4V,SLC39A11:NM_001352692:exon2:c.G11T:p.G4V,SLC39A11:NM_001352693:exon2:c.G11T:p.G4V,SLC39A11:NM_139177:exon2:c.G11T:p.G4V,SLC39A11:NM_001352691:exon3:c.G11T:p.G4V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.117343091951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.771e-06	2.369e-05	2.3e-07	9e-08	3.93e-06	1.47e-06	0	0	0	0	0	0	0	0	2.369e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.83351	D	0.995	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-1.43	0.80730	T	-6.37	0.91058	D	0.654	0.68516	0.501	0.90562	D	0.683	0.89055	D	10	0.7517543	0.75688	D	0.117343	0.79709	D	0.697	0.89053	0.334	0.32167	0.83337990874	0.83179	0.6920689555356158	0.69146	0.680450161091	0.59993	0.567728281021	0.48356	T	0.113024	0.42974	T	0.387839	0.89197	D	0.319328	0.89062	D	0.993267893791199	0.83995	D	.	.	.	0.85105693	0.87414	0.7662342	0.86193	0.85105693	0.87415	0.7662342	0.86194	-12.113	0.85398	D	.	.	0.246	0.49865	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.744230	0.76536	26.5	0.9741177924876272	0.33830	0.96440	0.69150	D	AEFDBI	0.488530	0.52682	N	0.686549273133024	0.78753	6.935158	0.61724872239595	0.76193	6.445926	0.999999330030127	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.553000	0.45498	7.347000	0.58277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	13.721	0.62206	684	0.59539	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr17	73088754	.	C	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=710;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.5;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1437:.	18	0	1	0
chr17	73088755	73088755	C	A	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon2:c.G10T:p.G4C,SLC39A11:NM_001352692:exon2:c.G10T:p.G4C,SLC39A11:NM_001352693:exon2:c.G10T:p.G4C,SLC39A11:NM_139177:exon2:c.G10T:p.G4C,SLC39A11:NM_001352691:exon3:c.G10T:p.G4C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.184370283973	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284147584	1.377e-06	1.368e-06	0	2.772e-06	2.37e-05	2.3e-07	9e-08	3.93e-06	1.47e-06	0	0	0	0	0	0	0	0	2.37e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-1.45	0.80899	T	-6.4	0.91184	D	0.68	0.68950	0.515	0.90762	D	0.687	0.89176	D	10	0.78153944	0.77895	D	0.18437	0.85745	D	0.708	0.89559	0.407	0.44066	0.843691188011	0.84220	0.7462415059915154	0.74570	0.640563242772	0.57683	0.602289557457	0.53229	T	0.208312	0.61363	T	0.388443	0.89234	D	0.320195	0.89098	D	0.989204347133636	0.79455	D	.	.	.	0.7963374	0.83672	0.6247116	0.78127	0.7963374	0.83674	0.6247116	0.78128	-13.92	0.92794	D	.	.	0.356	0.59567	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.753337	0.76773	26.6	0.97112065357700805	0.32417	0.97621	0.75959	D	AEFDBI	0.777256	0.71012	D	0.76427399371039	0.83832	8.121644	0.696195370934429	0.82090	7.681615	0.999999330030127	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	5.162000	0.64785	7.347000	0.58277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	13.721	0.62206	684	0.59539	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr17	73088755	.	C	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=708;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.66;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1437:.	18	0	1	0
chr17	73200000	73200000	C	T	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon5:c.C1049T:p.T350M	Congenital disorder of glycosylation, type IIg	0	1515	6	1	0	8	0.00263331	.	.	.	101806	not_provided|COG1_congenital_disorder_of_glycosylation|COG1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.246	0.0277046766088	0.0062	0.00339457	0.0061	0.0025	0.0025	0	0.0069	0.0094	0.0078	0.0007	.	.	.	rs117344829	0.0078	0.0078	0.0080	0.0076	0.0093	0.0076	0.0076	0.0091	0.0091	0.0012	0.0031	0.0003	0	0.0067	0.0054	0.0093	0.0066	0.0006	0.0063	0.0063	0.0068	0.0057	0.0102	0.0060	0.0058	0.0096	0.0093	0.0017	0.0077	0.0070	0.0006	0	0.0059	0.0034	0.0102	0.0062	0.0004	0.008	0.58626	D	0.018	0.59732	D	1.0	0.90584	D	0.935	0.67021	D	0.000000	0.84330	D	0.047990	1	0.81001	D	2.72	0.79541	M	1.84	0.24656	T	-2.48	0.54059	N	0.732	0.73285	-0.9621	0.38781	T	0.112	0.40145	T	10	0.0085653365	0.00194	T	0.027705	0.50487	D	0.246	0.55340	.	.	0.439445477881	0.43565	.	.	0.511076341954	0.49199	0.426174849272	0.28685	T	0.073173	0.52068	T	-0.267449	0.12042	T	-0.147554	0.59460	T	0.0213802504083464	0.00841	T	0.963604	0.86445	D	0.17031287	0.37598	0.17683838	0.40246	0.16882595	0.37363	0.17990056	0.40754	-4.274	0.27811	T	0.7373387316117861	0.81930	0.133	0.28863	B	.;.	.;.	4.207358	0.63535	24.6	0.93951743452724468	0.24014	0.97496	0.75125	D	AEFDBCI	0.589269	0.58622	D	0.587058124331829	0.72366	5.794405	0.546858588605413	0.71179	5.615553	0.999999205739479	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	4.84	0.62125	5.632000	0.67493	3.252000	0.37033	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.873000	0.41610	0.0:0.9308:0.0:0.0692	14.655	0.68434	469	0.78175	.;.	.	.	.	.	rs117344829	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.010870	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1443.33	99	chr17	73200000	.	C	T	1443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.088;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	73206242	73206242	C	T	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon11:c.C2599T:p.R867C	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0304232936559	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750297918	1.71e-05	1.71e-05	1.225e-05	2.2e-05	6.956e-05	1.174e-05	9.92e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.619e-05	0	6.956e-05	6.57e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.958	0.70027	D	0.000001	0.62929	D	0.101081	1	0.81001	D	3.07	0.87108	M	1.39	0.33842	T	-7.17	0.94145	D	0.738	0.74462	-0.5540	0.66634	T	0.272	0.64391	T	10	0.73786914	0.74748	D	0.030423	0.52740	D	0.343	0.66488	.	.	0.556342864924	0.55293	.	.	0.534727349575	0.50864	0.57826179266	0.49842	T	0.147193	0.61595	T	0.0756172	0.61524	D	0.0734964	0.75144	D	0.895809301065959	0.54742	D	0.974903	0.91072	D	0.6515205	0.75445	0.5569747	0.74374	0.6515205	0.75446	0.5569747	0.74374	-8.39	0.63699	D	0.6582616768579209	0.73136	0.084	0.12797	B	.;.	.;.	5.587478	0.92352	32	0.99263719270415651	0.57289	0.98007	0.78823	D	AEFBCI	0.753848	0.69390	D	0.817295375958477	0.87176	9.128129	0.778585633104476	0.88267	9.518756	0.999759781402298	0.42595	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.7	5.7	0.88690	5.491000	0.66606	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.841	0.96682	456	0.79013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1456.33	34	chr17	73206242	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.721;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A,FAM104A:NM_001289410:exon1:c.C67G:p.P23A,FAM104A:NM_001289411:exon1:c.C67G:p.P23A,FAM104A:NM_032837:exon1:c.C67G:p.P23A	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	33	chr17	73232240	.	G	C	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.699;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-1.304;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr17	73257728	73257728	T	C	exonic	CPSF4L	.	nonsynonymous SNV	CPSF4L:NM_001129885:exon3:c.A260G:p.Q87R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00719480268993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273185984	7.145e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	2.629e-05	2.625e-05	3.858e-05	1.344e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.024	0.51853	D	0.025	0.56192	D	0.009	0.15093	B	0.012	0.16012	B	0.011478	0.29519	N	0.286282	0.896173	0.27790	N	1.44	0.36004	L	1.0	0.41392	T	-2.5	0.54382	D	0.138	0.14905	-0.9602	0.39143	T	0.107	0.38931	T	10	0.30203176	0.47742	T	0.007195	0.19061	T	0.096	0.27654	0.357	0.35897	0.0297737177859	0.01360	0.5976541235586237	0.59696	.	.	0.294129788876	0.09529	T	0.212905	0.57408	T	-0.248505	0.14283	T	-0.594736	0.13257	T	0.730234980583191	0.42222	D	0.777722	0.41150	T	0.18328576	0.39589	0.22134478	0.46942	0.18328576	0.39589	0.22134478	0.46941	-7.965	0.60831	D	.	.	0.108	0.37969	B	.;.	.;.	2.360321	0.30275	18.39	0.99249698569489586	0.56825	0.87903	0.47606	D	AEFDCI	0.714484	0.66695	D	-0.112559602518894	0.36846	2.135322	-0.0100856648436294	0.39257	2.324986	0.625536135693899	0.21922	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.99	3.89	0.44098	4.640000	0.61065	1.160000	0.24546	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.09:0.0:0.91	9.036	0.35449	416	0.81733	Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2606.33	33	chr17	73257728	.	T	C	2606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.556;DP=824;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.445;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1406	18	0	1	0
chr17	74237346	74237346	G	A	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_001330453:exon4:c.G404A:p.R135Q,TTYH2:NM_032646:exon4:c.G467A:p.R156Q	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0107601053783	0.0007	0.000599042	0.0014	9.625e-05	0.0003	0	0.0002	0.0006	0.0033	0.0073	0.0011707	181	154602	rs146838126	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	5.974e-05	0.0004	7.652e-05	0	1.873e-05	0.0047	0.0005	0.0010	0.0070	0.0005	0.0005	0.0004	0.0007	0.0054	0.0004	0.0004	0.0038	0.0032	0.0001	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0005	0.0054	0.443	0.09182	T	0.165	0.33330	T	0.95	0.70673	P	0.595	0.64797	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	2.79	0.11189	T	-0.63	0.18459	N	0.323	0.36884	-1.1804	0.00364	T	0.067	0.27502	T	10	0.015330344	0.00322	T	0.01076	0.27663	T	0.175	0.44197	.	.	0.18274738541	0.17906	0.5602875507672628	0.55955	0.175573129607	0.19762	0.39073485136	0.23773	T	0.038885	0.36818	T	-0.304911	0.08204	T	-0.206894	0.53992	T	0.0681554750203357	0.08390	T	0.943306	0.78595	D	0.21390936	0.43783	0.2031201	0.44373	0.21390936	0.43783	0.2031201	0.44372	-3.629	0.18277	T	.	.	0.091	0.15296	B	.;.	.;.	4.211319	0.63621	24.6	0.99942855451748114	0.99848	0.97006	0.72147	D	AEFDGI	0.746015	0.68852	D	0.580847877510304	0.71982	5.734214	0.61186407467257	0.75802	6.37513	0.999999999373119	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.620846	0.47308	0	.	.	5.52	5.52	0.82153	5.273000	0.65375	7.113000	0.57572	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.061	0.93075	738	0.53389	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1542.33	38	chr17	74237346	.	G	A	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=973;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.072;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	18	0	1	0
chr17	74285052	74285052	C	T	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon3:c.C196T:p.R66W,DNAI2:NM_001353167:exon3:c.C196T:p.R66W,DNAI2:NM_023036:exon3:c.C196T:p.R66W	Ciliary dyskinesia, primary, 9, with or without situs inversus	0	1521	1	0	0	1	0.000328623	.	.	.	403137	DNAI2-related_disorder|Primary_ciliary_dyskinesia|not_provided	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.270	0.032121095337	0.0002	.	0.0002	9.699e-05	0	0	0.0005	0.0003	0	6.073e-05	0.0001552	24	154602	rs371226659	8.414e-05	8.414e-05	7.623e-05	9.213e-05	9.352e-05	7.203e-05	6.75e-05	7.86e-05	7.345e-05	2.987e-05	0	0	2.519e-05	0.0002	0	9.352e-05	1.656e-05	3.478e-05	7.228e-05	7.224e-05	5.139e-05	9.415e-05	0.0002	3.971e-05	3.127e-05	6.803e-05	5.087e-05	0	0	0	0	0	9.416e-05	0	0.0001	0	0.0002	0.008	0.58626	D	0.022	0.61642	D	0.999	0.77913	D	0.937	0.67262	D	0.000155	0.49130	D	0.172680	0.999991	0.81001	D	3.265	0.90016	M	2.26	0.17596	T	-5.52	0.85994	D	0.421	0.46835	-0.7705	0.56830	T	0.128	0.43482	T	10	0.2154398	0.38097	T	0.032121	0.54029	D	0.270	0.58507	.	.	0.245660935333	0.24156	0.5810610323158532	0.58035	0.292299643335	0.31640	0.525434434414	0.42391	T	0.126216	0.45244	T	-0.16611	0.25826	T	-0.202082	0.54449	T	0.868430435657501	0.51839	D	0.893911	0.64401	D	0.42394182	0.62353	0.3042515	0.56455	0.42394182	0.62353	0.3042515	0.56454	-8.91	0.67116	D	0.5510985732173299	0.61969	0.271	0.58203	B	.;.;.;.	.;.;.;.	4.150466	0.62260	24.4	0.99909866205783193	0.97949	0.41755	0.26727	N	AEFDBHCI	0.493308	0.52958	N	0.417482294879416	0.62384	4.453374	0.295058847444466	0.55249	3.688239	0.974019823263426	0.29505	0.495158	0.18159	0	0.616935	0.53198	0	0.606814	0.37721	0	0.584449	0.35598	0	.	.	4.92	1.42	0.21524	0.152000	0.16120	0.058000	0.14093	0.599000	0.40250	0.971000	0.34370	0.863000	0.27509	0.994000	0.71098	0.5307:0.4693:0.0:0.0	13.846	0.62962	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	33	chr17	74285052	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.175;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.374;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	74344842	74344842	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon7:c.G664A:p.A222T	.	400	1113	9	0	0	9	0.00402685	.	.	.	727408	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.722	0.131045244326	0.0019	0.00139776	0.0026	0.0004	0.0015	0	0.0009	0.0032	0.0081	0.0043	0.002445	378	154602	rs34016821	0.0023	0.0023	0.0021	0.0024	0.0063	0.0022	0.0022	0.0047	0.0041	0.0003	0.0018	0.0046	2.519e-05	0.0010	0.0063	0.0022	0.0026	0.0047	0.0019	0.0019	0.0019	0.0019	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0	0.0030	0.0049	0	0.0008	0.0204	0.0026	0.0019	0.0041	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	1.985	0.53793	M	-0.78	0.73631	T	-4.0	0.74051	D	0.623	0.63798	0.099	0.84154	D	0.541	0.83065	D	9	0.035112053	0.01746	T	0.131045	0.81326	D	0.722	0.90191	.	.	0.895603428102	0.89457	0.5371819583033458	0.53643	0.680600731235	0.60007	0.598223686218	0.52653	T	0.392017	0.75179	T	-0.128646	0.31715	T	0.0421518	0.73068	D	0.0362551188062024	0.03025	T	0.810219	0.75038	T	0.52735984	0.68680	0.6823055	0.81327	0.52735984	0.68681	0.6823055	0.81328	-10.858	0.78873	D	.	.	0.958	0.87779	P	.;.	.;.	5.712651	0.93179	33	0.99921471427946362	0.98787	0.95128	0.63540	D	AEFDGBI	0.740181	0.68451	D	0.637508803447298	0.75562	6.328073	0.604808948241817	0.75289	6.284179	0.999999999996387	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	5.476000	0.66520	8.282000	0.76904	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.200	0.89769	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.002725	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1095.33	33	chr17	74344842	.	G	A	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.765;DP=727;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-2.839;SOR=1.041	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	18	0	1	0
chr17	74352090	74352090	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon13:c.G1811A:p.R604H	.	425	1095	2	0	0	2	0.000912409	.	.	.	4162209	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.11274867132	.	.	6.275e-05	0	0	0	0	6.635e-05	0	0.0002	3.88e-05	6	154602	rs751181401	4.804e-05	5.746e-05	4.557e-05	5.057e-05	0.0014	3.861e-05	3.538e-05	0.0007	0.0005	0	0	0	0	0	0.0014	4.548e-05	5.07e-05	9.498e-05	3.943e-05	3.94e-05	5.14e-05	2.69e-05	8.822e-05	1.715e-05	1.129e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.005	0.68238	D	0.007	0.72224	D	1.0	0.90584	D	0.911	0.64720	D	.	.	.	.	0.986212	0.40398	D	2.25	0.63811	M	-1.07	0.76948	T	-3.44	0.67477	D	0.501	0.53357	0.023	0.82713	D	0.543	0.83185	D	9	0.6966524	0.72186	D	0.112749	0.79101	D	0.454	0.75347	.	.	0.866393452379	0.86509	0.5082054158008243	0.50742	0.692638023041	0.60672	0.696526288986	0.66643	T	0.161279	0.50546	T	-0.0738029	0.40718	T	-0.157252	0.58598	T	0.64294707775116	0.38162	D	0.937906	0.76702	D	0.22547206	0.45209	0.34943947	0.60568	0.22547206	0.45209	0.34943947	0.60568	-7.243	0.55789	T	.	.	0.113	0.22171	B	.;.	.;.	4.856349	0.79421	27.1	0.99787611174535229	0.87396	0.80297	0.39972	D	AEFDGBHCI	0.733681	0.68004	D	0.180758678058837	0.50275	3.219167	0.0709012440406634	0.43093	2.618277	0.999999896685694	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.36	3.36	0.37579	6.297000	0.72735	8.721000	0.78162	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0759:0.0:0.7811:0.1429	9.491	0.38121	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002024	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1351.33	33	chr17	74352090	.	G	A	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=726;ExcessHet=0;FS=0.835;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.386;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr17	74369559	74369559	G	A	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon2:c.G19A:p.G7R,GPR142:NM_001331077:exon2:c.G19A:p.G7R,GPR142:NM_181790:exon2:c.G335A:p.R112Q	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	0.000599042	0.0012	0.0007	0.0110	0	0	0.0019	0	0.0003	0.0005886	91	154602	rs145323799	0.0009	0.0009	0.0008	0.0009	0.0170	0.0008	0.0008	0.0143	0.0133	0.0006	0.0029	0.0023	0	4.043e-05	0.0170	0.0007	0.0016	0.0007	0.0008	0.0008	0.0008	0.0009	0.0031	0.0007	0.0007	0.0024	0.0021	0.0002	0	0.0031	0.0009	0	0	0.0171	0.0007	0.0028	0.0008	0.224	0.18691	T	0.0	0.92824	D	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.25	0.11008	N	0.093	0.07262	-1.0490	0.14677	T	0.104	0.38144	T	9	0.0051439106	0.00112	T	.	.	.	0.033	0.08068	.	.	0.576774385015	0.57347	0.13291447171295942	0.13215	0.132070076647	0.14885	0.214999228716	0.01041	T	0.004042	0.03453	T	-0.626178	0.00101	T	-0.675288	0.07273	T	0.0195211494218683	0.00656	T	0.481052	0.14533	T	0.023863943	0.01163	0.031542506	0.01758	0.023863943	0.01163	0.031542506	0.01758	-3.376	0.14735	T	.	.	0.081	0.08224	B	.	.	0.701099	0.10700	7.393	0.99516629065824425	0.68979	0.00876	0.03464	N	AEFGBI	0.045987	0.07585	N	-1.11083181261541	0.06449	0.2969175	-1.13407542532562	0.07057	0.3418765	0.201582896513629	0.18130	0.615755	0.39536	0	0.607795	0.50457	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.58	-3.08	0.05022	-0.865000	0.04358	-1.484000	0.05335	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.3907:0.0:0.4503:0.159	4.250	0.10142	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015432	0.015152	0.016949	0.026786	0.000000	0.017544	0.009259	0.003876	0.02632	2456.33	35	chr17	74369559	.	G	A	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.678;DP=788;ExcessHet=0;FS=5.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.778;SOR=0.451	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	18	0	1	0
chr17	74372572	74372572	C	T	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon4:c.C1097T:p.P366L,GPR142:NM_001331077:exon4:c.C1097T:p.P366L,GPR142:NM_181790:exon4:c.C1361T:p.P454L	.	431	1072	18	1	0	20	0.00924214	.	.	.	2808330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0173496799223	0.0037	0.00159744	0.0043	0.0018	0.0037	0.0001	0.0008	0.0064	0.0062	0.0017	0.0039456	610	154602	rs140397567	0.0050	0.0049	0.0049	0.0050	0.0057	0.0049	0.0048	0.0055	0.0055	0.0012	0.0045	0.0051	0.0001	0.0010	0.0042	0.0057	0.0054	0.0017	0.0040	0.0040	0.0043	0.0037	0.0057	0.0038	0.0037	0.0053	0.0051	0.0018	0.0307	0.0052	0.0058	0.0002	0.0005	0.0034	0.0057	0.0043	0.0014	0.396	0.10623	T	0.288	0.21144	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.6	0.40776	L	-0.26	0.67187	T	-0.53	0.16393	N	0.081	0.05670	-1.0246	0.22214	T	0.099	0.36957	T	9	0.0063492656	0.00143	T	0.01735	0.39013	T	0.041	0.10877	.	.	0.455909487837	0.45213	0.18651384417242733	0.18569	0.117002942572	0.13191	0.265333026648	0.05543	T	0.006776	0.06208	T	-0.565623	0.00235	T	-0.581529	0.14409	T	0.00308196130042475	0.00032	T	0.447055	0.12542	T	0.013799263	0.00070	0.031015558	0.01634	0.013799263	0.00070	0.031015558	0.01634	-3.986	0.23594	T	.	.	0.065	0.01934	B	.	.	-0.182750	0.03181	0.521	0.40642597587774743	0.02881	0.00903	0.03537	N	AEFBI	0.054018	0.09785	N	-1.35594138810062	0.03064	0.1362827	-1.40841692912964	0.03167	0.1472094	0.0371806132958303	0.14283	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	-2.64	0.05757	-0.539000	0.06202	-2.401000	0.03800	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3702:0.0:0.6298	9.998	0.41081	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	741.33	41	chr17	74372572	.	C	T	741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=775;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=2.18;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr17	74443910	74443910	C	A	exonic	GPRC5C	.	nonsynonymous SNV	GPRC5C:NM_001366261:exon3:c.C1144A:p.P382T,GPRC5C:NM_001366262:exon3:c.C1144A:p.P382T,GPRC5C:NM_018653:exon3:c.C1144A:p.P382T,GPRC5C:NM_022036:exon3:c.C1144A:p.P382T	.	428	1062	31	1	0	33	0.015299	0.0016	0.084	.	2808331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	.	0.0015	0.00299521	0.0028	0.0003	0.0034	0	0.0003	0.0026	0.0055	0.0076	0.0026132	404	154602	rs142708564	0.0020	0.0020	0.0018	0.0023	0.0081	0.0020	0.0019	0.0076	0.0074	0.0005	0.0026	0.0036	2.522e-05	0.0006	0.0064	0.0016	0.0028	0.0081	0.0018	0.0018	0.0017	0.0019	0.0100	0.0016	0.0016	0.0077	0.0069	0.0007	0	0.0029	0.0046	0	0.0003	0.0136	0.0017	0.0057	0.0100	0.189	0.21224	T	0.35	0.17478	T	0.007	0.14184	B	0.007	0.12992	B	0.038911	0.24230	N	0.412978	0.647707	0.81001	D	.	.	.	2.27	0.17431	T	-1.11	0.28703	N	0.239	0.36779	-1.0620	0.11263	T	0.037	0.15943	T	10	0.004352629	0.00088	T	.	.	.	0.063	0.18251	.	.	0.0884992946249	0.08302	.	.	0.322169024805	0.34410	0.363022744656	0.19826	T	0.035498	0.23742	T	-0.483618	0.00705	T	-0.462754	0.26300	T	0.0174253554794817	0.00479	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	-4.327	0.28554	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.828629	0.23235	15.94	0.78202249606816954	0.12199	0.48080	0.28127	N	AEFGBCI	0.596388	0.59058	D	-0.313090028819374	0.28649	1.582026	-0.211977405103111	0.31103	1.757264	0.999999286446192	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.688494	0.62686	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	1.896000	0.39421	1.768000	0.28610	0.599000	0.40250	0.639000	0.28076	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	16.203	0.81921	692	0.58729	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.025253	0.009511	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	1677.83	36	chr17	74443910	.	C	A	1677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.143;DP=784;ExcessHet=0.119;FS=1.192;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.212;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	17	0	2	0
chr17	74446999	74446999	G	A	exonic;splicing	GPRC5C;GPRC5C	NM_001366261:exon4:c.1296+1G>A	nonsynonymous SNV	GPRC5C:NM_001366262:exon4:c.G1297A:p.V433I,GPRC5C:NM_018653:exon4:c.G1297A:p.V433I,GPRC5C:NM_022036:exon4:c.G1297A:p.V433I	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0197678881549	0.0010	0.000798722	0.0012	0.0002	0.0030	0	0	0.0015	0.0022	0.0007	0.0011772	182	154602	rs139362972	0.0010	0.0010	0.0009	0.0010	0.0239	0.0009	0.0009	0.0207	0.0194	0.0009	0.0023	0.0036	0	1.873e-05	0.0239	0.0008	0.0019	0.0008	0.0011	0.0011	0.0010	0.0011	0.0032	0.0009	0.0009	0.0025	0.0022	0.0003	0.0011	0.0032	0.0032	0	0	0.0374	0.0010	0.0024	0.0012	0.063	0.36709	T	0.0	0.92824	D	0.11	0.26188	B	0.082	0.29098	B	0.868097	0.07159	N	1.064850	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.13	0.08971	N	0.285	0.49783	-1.0014	0.29516	T	0.038	0.16462	T	10	0.005319476	0.00117	T	0.019768	0.42216	T	0.073	0.21317	.	.	0.152612264143	0.14878	.	.	0.453800598545	0.45067	0.425628244877	0.28611	T	0.017135	0.14032	T	-0.511414	0.00493	T	-0.512314	0.21077	T	0.0451563023148163	0.04630	T	0.805019	0.45286	T	.	.	.	.	.	.	.	.	-4.325	0.28526	T	.	.	0.135	0.29283	B	.;.;.	.;.;.	4.280297	0.65190	24.8	0.90540670556225877	0.19796	0.73187	0.35803	D	AEFDGBHCI	0.607745	0.59759	D	-0.469815302335296	0.23074	1.236529	-0.327073127107493	0.27228	1.50936	0.999909565584267	0.45458	0.695654	0.57023	0	0.593476	0.48661	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.63	3.65	0.40985	4.082000	0.57357	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1698:0.0:0.8302:0.0	8.975	0.35094	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.000000	0.025815	0.064327	0.000000	0.025862	0.015244	0.000000	0.02632	901.33	33	chr17	74446999	.	G	A	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=705;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.054;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1235	18	0	1	0
chr17	74560754	74560754	C	T	exonic	CD300H	.	nonsynonymous SNV	CD300H:NM_001324073:exon4:c.G553A:p.G185S	.	899	608	12	3	0	18	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0009508	147	154602	rs138914131	0.0078	0.0041	0.0080	0.0076	0.0236	0.0075	0.0074	0.0192	0.0176	0.0018	0.0032	0.0078	0.0005	0.0258	0.0062	0.0067	0.0068	0.0236	0.0064	0.0064	0.0050	0.0078	0.0212	0.0060	0.0059	0.0179	0.0166	0.0009	0	0.0025	0.0078	0.0006	0.0311	0.0068	0.0062	0.0052	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1313.33	39	chr17	74560754	.	C	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=859;ExcessHet=0;FS=1.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.689;SOR=0.549	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr17	74698623	74698623	T	G	splicing	CD300LF	NM_001289083:exon4:c.447-2A>C	.	.	.	437	1079	5	1	0	7	0.00323326	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0011	0	0	0	0	0.0015	0	0.0017	0.0002523	39	154602	rs566998097	0.0014	0.0013	0.0015	0.0013	0.0060	0.0013	0.0013	0.0043	0.0038	0.0003	0.0013	0.0003	0	2.917e-05	0.0060	0.0016	0.0014	0.0001	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0012	0	0	0	0	0.0013	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.763207	0.00014	T	-0.893698	0.00548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253177	0.06321	2.783	0.53502680375630707	0.04952	0.01092	0.04017	N	AEFBI	.	.	.	-0.885492111174648	0.11187	0.5385175	-1.13131261509394	0.07108	0.3445295	0.200605301616279	0.18118	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0966614	0.21662	3.61	-5.31	0.02519	-0.392000	0.07375	-0.136000	0.11567	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3228:0.4432:0.234	6.156	0.19554	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	318.33	34	chr17	74698623	.	T	G	318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.027;SOR=0.61	GT:AD:DP:GQ:PL	0/1:13,12:25:99:332,0,381	18	0	1	0
chr17	74729265	74729265	G	T	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_175738:exon2:c.G82T:p.V28L	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0689948728007	0.0005	0.000599042	0.0009	0.0002	0.0021	0	0	0.0012	0.0033	0.0004	0.0009379	145	154602	rs140336944	0.0007	0.0007	0.0006	0.0007	0.0170	0.0006	0.0006	0.0143	0.0133	0.0010	0.0014	0.0022	0	1.872e-05	0.0170	0.0005	0.0014	0.0006	0.0008	0.0008	0.0008	0.0008	0.0020	0.0007	0.0006	0.0015	0.0013	0.0003	0	0.0020	0.0035	0	0	0.0136	0.0008	0.0038	0.0004	0.526	0.08067	T	0.251	0.23638	T	0.004	0.12183	B	0.01	0.14941	B	.	.	.	.	0.726816	0.29868	N	.	.	.	-1.03	0.76430	T	0.65	0.02332	N	0.636	0.66358	-0.7455	0.58170	T	0.225	0.58982	T	9	0.044011146	0.03312	T	0.068995	0.70606	D	0.306	0.62729	0.668	0.80602	0.557953424633	0.55455	.	.	.	.	.	.	.	.	.	.	-0.290497	0.09587	T	-0.220135	0.52724	T	0.0432263566364833	0.04278	T	0.950905	0.81786	D	.	.	.	.	.	.	.	.	-3.385	0.14855	T	.	.	0.461	0.62767	A	.;.	.;.	2.323430	0.29754	18.22	0.98899618855865357	0.48163	0.97683	0.76388	D	AEFGBI	0.853886	0.77088	D	-0.0638143658952433	0.38988	2.292037	0.170692603264838	0.48248	3.04338	0.999999999964245	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	7.362000	0.78764	6.482000	0.55739	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	16.350	0.83035	586	0.69252	Small GTP-binding protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.010870	0.043860	0.000000	0.034483	0.012195	0.000000	0.02632	1490.33	34	chr17	74729265	.	G	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.09;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	18	0	1	0
chr17	74762108	74762108	C	T	exonic	SLC9A3R1	.	nonsynonymous SNV	SLC9A3R1:NM_004252:exon2:c.C538T:p.R180W	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1617083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.350	0.0614219401805	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.057e-05	0.0001746	27	154602	rs200609318	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0001	0.0023	0.0003	1.873e-05	0.0014	0.0002	0.0003	0.0002	0.0001	0.0001	6.422e-05	0.0002	0.0004	9.736e-05	8.251e-05	9.048e-05	7.012e-05	2.405e-05	0	0.0001	0.0012	0.0002	0	0	0.0002	0.0005	0.0004	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999539	0.47451	D	2.475	0.71894	M	1.67	0.27331	T	-7.27	0.94404	D	0.902	0.90251	-0.8507	0.51919	T	0.172	0.51341	T	10	0.45346114	0.58843	T	0.061422	0.68326	D	0.350	0.67142	.	.	0.485846224565	0.48215	0.7290906878529809	0.72854	0.346594351139	0.36563	0.593844771385	0.52036	T	0.386009	0.74727	T	0.0160159	0.53842	T	0.059529	0.74213	D	0.308903372102969	0.25369	T	0.940306	0.77472	D	0.8540145	0.87633	0.839926	0.90833	0.8540145	0.87635	0.839926	0.90834	-10.567	0.77231	D	.	.	0.792	0.76901	P	.;.	.;.	4.570497	0.72107	25.8	0.99834669402334908	0.91628	0.88693	0.48742	D	AEFDBCI	0.891511	0.82754	D	0.163214898486031	0.49440	3.144334	0.091333018196903	0.44112	2.699255	0.999998285724709	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.562822	0.20929	0	.	.	5.14	4.16	0.48138	2.375000	0.43938	4.904000	0.45887	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.1443:0.8557:0.0:0.0	14.946	0.70685	707	0.57054	PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	833.33	35	chr17	74762108	.	C	T	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=754;ExcessHet=0;FS=5.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.713;SOR=0.961	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1364	18	0	1	0
chr17	74843391	74843391	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon13:c.G2746A:p.A916T	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0486464648924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs932510701	4.127e-05	4.788e-05	4e-05	4.257e-05	0.0004	3.225e-05	2.945e-05	0.0002	0.0002	0	0	0	0.0004	0	0	3.437e-05	0.0001	1.267e-05	2.628e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.036	0.43393	D	0.274	0.22084	T	0.999	0.77913	D	0.941	0.67658	D	0.002257	0.36929	N	0.220754	0.999066	0.45987	D	2.295	0.65404	M	2.78	0.11298	T	-1.76	0.41618	N	0.468	0.50418	-1.1611	0.00730	T	0.058	0.24391	T	10	0.40311506	0.55706	T	0.048646	0.63465	D	0.095	0.27398	0.217	0.13788	0.696379046619	0.69376	0.648922610724832	0.64828	1.35881551398	0.84260	0.855335652828	0.90417	D	0.407054	0.76278	T	-0.099742	0.36466	T	-0.381049	0.35598	T	0.89399242401123	0.54531	D	0.885811	0.61165	D	0.11026169	0.26063	0.23465458	0.48688	0.11026169	0.26063	0.23465458	0.48687	-7.208	0.55539	T	.	.	0.258	0.49314	B	.	.	4.419872	0.68443	25.2	0.99904666878913095	0.97576	0.97570	0.75617	D	AEFDBI	0.673913	0.63981	D	0.429340701150789	0.63042	4.530544	0.392326986634691	0.61090	4.304507	0.999999968926556	0.74766	0.59774	0.34471	0	0.588066	0.40923	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.66	3.68	0.41359	7.037000	0.76256	3.787000	0.39814	0.508000	0.23123	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0:0.9185:0.0:0.0815	12.620	0.55958	873	0.30802	Glutamate [NMDA] receptor, epsilon subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002641	0.000000	0.005556	0.000000	0.000000	0.000000	0.005102	0.000000	0.02632	500.33	33	chr17	74843391	.	C	T	500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=638;ExcessHet=0;FS=2.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.416;SOR=1.292	GT:AD:DP:GQ:PL	0/1:24,19:43:99:514,0,549	18	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.02632	672.33	36	chr17	74854900	.	G	A	672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.826;DP=698;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.537;SOR=0.467	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1364	18	0	1	0
chr17	74855020	74855020	G	A	exonic	GRIN2C	.	stopgain	GRIN2C:NM_000835:exon2:c.C73T:p.Q25X,GRIN2C:NM_001278553:exon2:c.C73T:p.Q25X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404720563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.384309	0.13345	N	0.662793	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.095	0.07535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573376	0.96669	D	0.585839	0.96613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.255548	0.97350	37	0.99723836864653448	0.82266	0.90963	0.52594	D	AEFBI	0.139234	0.26077	N	0.532535007123857	0.69025	5.298865	0.316481543562482	0.56508	3.814211	0.00591358887280385	0.11077	0.59774	0.34471	0	0.626922	0.53725	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.02	4.02	0.45968	0.929000	0.28445	9.485000	0.80887	0.668000	0.69082	0.062000	0.21832	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	13.705	0.62113	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1125.33	36	chr17	74855020	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.008;DP=789;ExcessHet=0;FS=1.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=3.15;SOR=0.976	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1364	18	0	1	0
chr17	74855071	74855071	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.G22A:p.A8T,GRIN2C:NM_001278553:exon2:c.G22A:p.A8T	.	414	1089	18	1	0	20	0.00909918	.	.	.	717899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00557810023779	0.0031	0.00179712	0.0038	0.0008	0.0037	0	0.0053	0.0052	0.0028	0.0012	0.0034152	528	154602	rs80016270	0.0036	0.0036	0.0036	0.0037	0.0126	0.0035	0.0035	0.0102	0.0093	0.0005	0.0047	0.0117	0	0.0034	0.0126	0.0037	0.0049	0.0012	0.0031	0.0031	0.0028	0.0034	0.0054	0.0029	0.0028	0.0045	0.0041	0.0009	0	0.0054	0.0118	0	0.0040	0.0340	0.0036	0.0052	0.0012	0.066	0.36113	T	0.024	0.58613	D	0.013	0.16609	B	0.003	0.08700	B	0.000217	0.47681	D	0.000000	0.991763	0.23986	N	1.32	0.33002	L	2.76	0.11515	T	-0.69	0.19720	N	0.069	0.05542	-1.0327	0.19586	T	0.018	0.07470	T	10	0.01020661	0.00228	T	0.005578	0.14409	T	0.070	0.20419	.	.	0.426084969639	0.42228	0.2103491637525551	0.20950	0.475333967589	0.46711	0.65935587883	0.61317	T	0.122926	0.44693	T	-0.646808	0.00076	T	-0.699537	0.05852	T	0.00427776831612339	0.00046	T	0.667933	0.28413	T	0.067362584	0.14579	0.1271619	0.30616	0.067362584	0.14578	0.1271619	0.30615	-5.971	0.46036	T	.	.	0.105	0.19518	B	.;.	.;.	2.315961	0.29649	18.19	0.92519042796558038	0.21960	0.22985	0.21928	N	AEFBI	0.090535	0.18345	N	-0.412394032517546	0.25033	1.356005	-0.349068439635612	0.26537	1.466477	0.0621952129285446	0.15256	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.47	4.47	0.53770	0.312000	0.19147	2.670000	0.33941	0.589000	0.31548	0.100000	0.22794	0.992000	0.31684	0.495000	0.28905	0.0:0.6924:0.1671:0.1405	6.560	0.21680	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011651	0.015152	0.010870	0.017647	0.000000	0.017241	0.012500	0.000000	0.02632	1811.33	36	chr17	74855071	.	C	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.326;DP=773;ExcessHet=0;FS=1.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1364	18	0	1	0
chr17	74893498	74893533	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	-	exonic	FADS6	.	nonframeshift deletion	FADS6:NM_178128:exon1:c.63_98del:p.T22_P33del	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266381884	0.0022	0.0022	0.0022	0.0023	0.0046	0.0022	0.0021	0.0032	0.0027	0.0010	0.0009	0.0041	5.498e-05	0.0009	0.0046	0.0025	0.0031	0.0007	0.0071	0.0063	0.0079	0.0063	0.0112	0.0067	0.0066	0.0105	0.0102	0.0038	0	0.0047	0.0061	0.0013	0.0011	0.0082	0.0112	0.0064	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7973.29	47	chr17	74893497	.	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C	7973.29	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.241;DP=1234;ExcessHet=11.1788;FS=1.753;InbreedingCoeff=-0.4615;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.36;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:32:99:.:.:578,629,1242:.	17	0	2	0
chr17	74893524	74893578	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	0	exonic	FADS6	.	.	.	.	431	885	175	21	10	227	0.10921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5823.3	64	chr17	74893524	.	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	*	5823.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.72;DP=1147;ExcessHet=0.1204;FS=2.468;InbreedingCoeff=0.272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.731;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	17	0	2	0
chr17	74893569	74893569	-	GGTTCCATGGGCTCCGTAGGTTCCATCGGCTCCGTG	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.26_27insCACGGAGCCGATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.617e-05	6.733e-05	4.464e-05	4.775e-05	0.0002	3.608e-05	3.295e-05	6.552e-05	4.258e-05	0	0	0	0.0002	4.453e-05	0	4.78e-05	2.062e-05	3.26e-05	7.399e-05	0.0002	9.662e-05	5.039e-05	9.886e-05	3.774e-05	2.814e-05	4.243e-05	2.925e-05	8.139e-05	0	7.634e-05	0	0	0	0	9.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	810.55	60	chr17	74893569	.	A	AGGTTCCATGGGCTCCGTAGGTTCCATCGGCTCCGTG	810.55	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=1;MLEAF=0.026;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	13	1	5	0
chr17	74930587	74930587	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.G952A:p.G318R	.	426	1014	80	2	0	84	0.0397727	.	.	.	704366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0056	0.00419329	0.0077	0.0014	0.0020	0.0003	0.0005	0.0069	0.0089	0.0259	0.0070633	1092	154602	rs141455683	0.0071	0.0071	0.0063	0.0078	0.0260	0.0070	0.0069	0.0250	0.0247	0.0012	0.0029	0.0123	0.0002	0.0008	0.0260	0.0063	0.0077	0.0259	0.0049	0.0049	0.0049	0.0049	0.0222	0.0046	0.0045	0.0188	0.0175	0.0014	0.0011	0.0030	0.0089	0.0006	0.0005	0.0136	0.0069	0.0066	0.0222	0.524	0.07163	T	0.502	0.11115	T	0.009	0.15093	B	0.008	0.13708	B	0.915206	0.07441	N	1.037460	1	0.08975	N	0.55	0.14455	N	2.0	0.21473	T	1.04	0.01332	N	0.071	0.04426	-0.9554	0.40024	T	0.014	0.05705	T	10	0.003012538	0.00049	T	.	.	.	0.013	0.01715	0.332	0.31843	0.0297737177859	0.01360	0.1529508724129356	0.15217	0.191530735651	0.21486	0.232459336519	0.02155	T	0.008023	0.07382	T	-0.673912	0.00052	T	-0.721208	0.04737	T	0.000571438700328689	0.00005	T	0.342266	0.07430	T	0.028871108	0.02291	0.052443184	0.08640	0.028871108	0.02290	0.052443184	0.08639	-3.992	0.23683	T	.	.	0.073	0.04889	B	.;.	.;.	0.111383	0.05106	1.639	0.49088204705005861	0.04150	0.07585	0.13596	N	AEFGBI	0.122439	0.23758	N	-1.4242460922757	0.02427	0.1071593	-1.40111998355244	0.03241	0.150791	0.719820147298435	0.22918	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.32	-1.72	0.07671	-0.361000	0.07664	-0.207000	0.10889	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4099:0.105:0.4851:0.0	7.43	0.26294	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015609	0.000000	0.005435	0.017544	0.000000	0.008621	0.030488	0.022727	0.05263	7055.83	310	chr17	74930587	.	G	A	7055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.18;DP=1306;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.72;SOR=0.755	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1356	17	0	2	0
chr17	74935803	74935803	T	C	exonic	OTOP3	.	startloss	OTOP3:NM_178233:exon1:c.T2C:p.M1?	.	429	1058	35	0	0	35	0.0162715	.	.	.	2808352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.307	0.240900684133	0.0028	0.000399361	0.0059	0	0.0074	0	0	0.0065	0	0.0075	0.000815	126	154602	rs368367098	0.0028	0.0027	0.0027	0.0029	0.0201	0.0027	0.0027	0.0171	0.0160	0.0005	0.0017	0.0002	0	0.0011	0.0201	0.0029	0.0034	0.0036	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0004	0.0022	0.0023	0.0003	0	0.0016	0.0374	0.0028	0.0038	0.0017	.	.	.	.	.	.	0.932	0.51990	P	0.775	0.57058	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.1759	0.00434	T	0.046	0.19599	T	8	0.013410479	0.00284	T	0.240901	0.88694	D	.	.	.	.	.	.	0.35152649025108534	0.35066	.	.	.	.	.	0.003197	0.02596	T	-0.281902	0.10467	T	-0.177991	0.56708	T	0.0652697690357915	0.07971	T	0.9	0.65058	D	0.8545362	0.87673	0.72875154	0.83974	0.8545362	0.87674	0.72875154	0.83975	-6.006	0.46330	T	.	.	.	.	.	.	.	2.574557	0.33367	19.32	0.95942560923393894	0.28247	0.66934	0.33252	D	AEFDBHCI	0.200952	0.32764	N	0.342361878231728	0.58337	4.005367	0.318435499155554	0.56623	3.825909	0.997488613492816	0.35668	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	1.947000	0.39919	4.911000	0.45953	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	9.377	0.37453	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006494	0.000000	0.000000	0.022936	0.000000	0.000000	0.000000	0.000000	0.02632	972.33	36	chr17	74935803	.	T	C	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.397;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	18	0	1	0
chr17	74947158	74947158	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.G1249A:p.V417M,OTOP3:NM_178233:exon6:c.G1303A:p.V435M	.	427	1018	75	2	0	79	0.0373522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	0.0015	0.0061901	0.0060	0.0004	0.0020	0	0.0005	0.0021	0.0100	0.0331	0.0052134	806	154602	rs36036654	0.0029	0.0029	0.0020	0.0038	0.0305	0.0028	0.0028	0.0296	0.0292	0.0002	0.0019	0.0160	0.0002	0.0006	0.0175	0.0006	0.0045	0.0305	0.0020	0.0020	0.0013	0.0028	0.0306	0.0019	0.0018	0.0266	0.0251	0.0004	0	0.0017	0.0135	0.0004	0.0002	0.0102	0.0009	0.0024	0.0306	0.099	0.30656	T	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999656	0.48079	D	3.115	0.87836	M	1.8	0.25344	T	-0.87	0.23590	N	.	.	-0.7817	0.56206	T	0.167	0.50632	T	10	0.012928009	0.00276	T	.	.	.	0.325	0.64725	.	.	0.629528454764	0.62650	0.41167949801164166	0.41083	0.222252166983	0.24760	0.715541243553	0.69397	T	0.018344	0.14803	T	-0.331264	0.06016	T	-0.225617	0.52195	T	0.0528079158904391	0.05987	T	0.89491	0.63503	D	0.24908622	0.47901	0.29670504	0.55704	0.24908622	0.47901	0.29670504	0.55703	-7.699	0.59001	D	.	.	0.401	0.59628	A	.;.	.;.	4.544321	0.71454	25.7	0.9990039393200798	0.97199	0.96533	0.69615	D	AEFGBI	0.795704	0.72305	D	0.715737068723012	0.80662	7.344704	0.637523299539449	0.77683	6.727076	0.17361676551724	0.17771	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	6.905000	0.75535	8.674000	0.78019	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.524000	0.29567	0.0878:0.0:0.9122:0.0	10.906	0.46288	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.009511	0.023392	0.000000	0.008621	0.009146	0.007576	0.05263	3488.83	45	chr17	74947158	.	G	A	3488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=912;ExcessHet=0.119;FS=4.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.232;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1187	17	0	2	0
chr17	74951577	74951577	C	T	exonic	HID1	.	nonsynonymous SNV	HID1:NM_030630:exon19:c.G2360A:p.R787Q	.	427	1088	7	0	0	7	0.0032066	.	.	.	2808356	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0439561778183	0.0002	0.00119808	0.0007	0	0.0001	0.0001	0	0.0005	0.0016	0.0028	0.0004981	77	154602	rs147346796	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0022	0.0018	0.0001	0.0003	0	0	0	0.0033	0.0002	0.0003	0.0021	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0039	0.01	0.56456	D	0.026	0.55759	D	0.953	0.54283	P	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.795	0.47270	L	.	.	.	-3.33	0.66206	D	0.543	0.57006	-0.2609	0.76063	T	0.335	0.70174	T	9	0.012904733	0.00275	T	0.043956	0.61247	D	0.208	0.49714	.	.	0.468504517574	0.46476	0.4888157855054519	0.48801	0.715199722194	0.61928	0.685037076473	0.64993	T	0.234582	0.60164	T	-0.267374	0.12052	T	-0.163008	0.58081	T	0.149145651269397	0.17035	T	0.990801	0.97198	D	0.5449325	0.69673	0.37739155	0.62840	0.5449325	0.69674	0.37739155	0.62840	-12.787	0.88466	D	.	.	0.446	0.62018	A	.	.	5.089670	0.84982	28.5	0.99947202717053008	0.99913	0.99381	0.95289	D	AEFDBI	0.910679	0.86892	D	0.466338443537541	0.65137	4.784674	0.396310902965415	0.61335	4.332387	0.999981496195505	0.51787	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.96	3.96	0.45097	7.307000	0.78227	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	15.997	0.80055	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.003086	0.003788	0.02632	1700.33	36	chr17	74951577	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.655;DP=766;ExcessHet=0;FS=2.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.993;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	18	0	1	0
chr17	74958918	74958918	A	C	exonic	HID1	.	nonsynonymous SNV	HID1:NM_030630:exon9:c.T1142G:p.F381C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00537220591501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.166	0.30828	T	0.007	0.14184	B	0.014	0.16862	B	0.000009	0.62929	N	0.112112	0.990119	0.41090	D	0.72	0.18721	N	.	.	.	-3.85	0.72353	D	0.664	0.67304	-1.0630	0.11021	T	0.065	0.26983	T	9	0.39953652	0.55469	T	0.005372	0.13771	T	0.202	0.48754	0.411	0.44723	0.379707525713	0.37584	0.3817643355711356	0.38091	0.554039843367	0.52157	0.897931098938	0.96207	D	0.246144	0.61556	T	0.0152736	0.53744	T	-0.215837	0.53137	T	0.96418297290802	0.66881	D	0.987726	0.95813	D	0.24575427	0.47537	0.23562278	0.48812	0.24575427	0.47537	0.23562278	0.48811	-2.984	0.10010	T	.	.	0.259	0.49393	B	.	.	3.919719	0.57214	23.8	0.98920993171942695	0.48565	0.93922	0.59581	D	AEFDBCI	0.846029	0.76292	D	-0.246337261345278	0.31250	1.750378	-0.00185342016919043	0.39633	2.35283	0.98890309824667	0.31664	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.97	4.97	0.65419	5.856000	0.69262	11.018000	0.84925	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.849:0.0:0.0:0.1509	10.007	0.41133	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1758.33	35	chr17	74958918	.	A	C	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.177;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	18	0	1	0
chr17	75020979	75020979	A	G	exonic	MRPL58	.	nonsynonymous SNV	MRPL58:NM_001303265:exon6:c.A590G:p.D197G,MRPL58:NM_001545:exon6:c.A595G:p.T199A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00475090332717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.02274	T	0.936	0.02725	T	0.002	0.09854	B	0.003	0.08700	B	0.066840	0.21783	N	0.517413	0.998247	0.22270	N	-0.87	0.01450	N	2.03	0.20959	T	-0.03	0.07444	N	0.042	0.01498	-0.9506	0.40868	T	0.012	0.04605	T	10	0.03351757	0.01530	T	0.004751	0.11847	T	0.036	0.09122	0.211	0.12923	0.0716867268079	0.06686	0.0973089801218698	0.09661	0.296684357204	0.32054	0.280563622713	0.07570	T	0.007484	0.06883	T	-0.347962	0.04856	T	-0.7376	0.03992	T	0.0871684551239014	0.10879	T	0.612239	0.23293	T	0.03965504	0.05514	0.025769083	0.00635	0.03965504	0.05514	0.025769083	0.00635	-2.837	0.08529	T	.	.	0.068	0.02894	B	.	.	2.093931	0.26636	17.19	0.15015560317173091	0.00352	0.70302	0.34535	D	AEFBIJ	0.152793	0.27754	N	-0.984572516134452	0.08933	0.4207622	-0.802942691752075	0.14425	0.7535935	9.45402726235957E-5	0.04910	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.24	0.424	0.15684	1.207000	0.31938	1.707000	0.28170	0.756000	0.94297	0.998000	0.41325	0.405000	0.24731	0.951000	0.49849	0.414:0.2115:0.3745:0.0	5.556	0.16405	964	0.07719	Peptide chain release factor class I/class II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1573.33	33	chr17	75020979	.	A	G	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.215;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.205;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr17	75242428	75242428	C	G	exonic	GGA3	.	nonsynonymous SNV	GGA3:NM_001291642:exon5:c.G289C:p.E97Q,GGA3:NM_001172704:exon7:c.G289C:p.E97Q,GGA3:NM_014001:exon7:c.G556C:p.E186Q,GGA3:NM_001172703:exon8:c.G439C:p.E147Q,GGA3:NM_138619:exon8:c.G655C:p.E219Q,GGA3:NM_001291641:exon9:c.G439C:p.E147Q	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	7.7e-05	0.01877	0.0076	0.0002	8.637e-05	0.1016	0.0012	0.0003	0.0066	0.0007	0.0070504	1090	154602	rs78338345	0.0034	0.0034	0.0034	0.0034	0.1074	0.0033	0.0033	0.1047	0.1036	0.0001	0.0001	0.0001	0.1074	0.0013	0.0005	0.0002	0.0047	0.0013	0.0036	0.0037	0.0030	0.0043	0.0943	0.0034	0.0033	0.0874	0.0846	0.0003	0	0.0004	0.0003	0.0943	0.0013	0	0.0001	0.0057	0.0031	.	.	.	0.221	0.36630	T	0.532	0.90584	P	0.621	0.97372	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.88	0.49984	L	0.79	0.49068	T	.	.	.	0.599	0.65159	-1.1237	0.02110	T	0.008	0.02801	T	10	0.0026178956	0.00040	T	.	.	.	0.179	0.44899	.	.	0.84139860181	0.83988	0.23731523162067475	0.23646	.	.	0.527421593666	0.42672	T	0.117224	0.43716	T	-0.363431	0.03939	T	-0.207967	0.53889	T	0.0410354941669957	0.03878	T	0.719828	0.34191	T	0.6824873	0.77104	0.46055254	0.68668	0.6824873	0.77105	0.46055254	0.68669	-10.782	0.78449	D	.	.	0.234	0.47094	B	.;.;.;.;.;.	.;.;.;.;.;.	4.130814	0.61814	24.4	0.98444071959766488	0.41542	0.96524	0.69570	D	AEFDGBHCI	0.830068	0.74886	D	0.576238488136761	0.71692	5.689902	0.582004973011859	0.73651	6.005361	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.83	4.83	0.61880	6.118000	0.71287	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.134	0.89545	958	0.09170	.;GAT domain;.;GAT domain;.;GAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1505.33	34	chr17	75242428	.	C	G	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.076;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	0	1	0
chr17	75267554	75267554	A	C	exonic	MIF4GD	.	nonsynonymous SNV	MIF4GD:NM_001242501:exon4:c.T425G:p.L142W,MIF4GD:NM_001363806:exon4:c.T269G:p.L90W,MIF4GD:NM_001242500:exon5:c.T527G:p.L176W,MIF4GD:NM_001365752:exon5:c.T425G:p.L142W,MIF4GD:NM_001365753:exon5:c.T425G:p.L142W,MIF4GD:NM_001365754:exon5:c.T425G:p.L142W,MIF4GD:NM_001365755:exon5:c.T425G:p.L142W,MIF4GD:NM_001370592:exon5:c.T425G:p.L142W,MIF4GD:NM_001242498:exon6:c.T548G:p.L183W,MIF4GD:NM_001365751:exon6:c.T548G:p.L183W,MIF4GD:NM_020679:exon6:c.T527G:p.L176W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0490744511845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.81110	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	1.82	0.25018	T	-3.73	0.70920	D	0.717	0.73465	-0.9903	0.32525	T	0.147	0.47129	T	9	0.65248024	0.69683	D	0.049074	0.63654	D	0.316	0.63799	0.574	0.69826	0.546217525997	0.54276	0.42496367132253404	0.42413	1.08107058117	0.77135	0.642436921597	0.58910	T	0.156395	0.49855	T	0.0798134	0.62020	D	-0.12313	0.61545	T	0.90868369491697	0.56335	D	0.931007	0.78262	D	0.59385514	0.72359	0.701723	0.82423	0.59385514	0.72360	0.701723	0.82424	-10.986	0.79582	D	.	.	0.619	0.82816	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.855061	0.79394	27.1	0.8999056746194265	0.19282	0.99449	0.96169	D	AEFDBHCI	0.939024	0.93906	D	0.779482749905335	0.84805	8.391952	0.789218168460202	0.89035	9.812104	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.601644	0.32324	0	0.662433	0.64102	0	.	.	5.89	5.89	0.94758	8.676000	0.90929	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	16.298	0.82613	970	0.06235	MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3|MIF4G-like, type 3;MIF4G-like, type 3;MIF4G-like, type 3;MIF4G-like, type 3;.;.;MIF4G-like, type 3;MIF4G-like, type 3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	39	chr17	75267554	.	A	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.616;DP=715;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.234;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	18	0	1	0
chr17	75493089	75493089	A	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon15:c.A2103T:p.K701N,TMEM94:NM_001351203:exon15:c.A2103T:p.K701N,TMEM94:NM_001321149:exon16:c.A2085T:p.K695N,TMEM94:NM_001351202:exon16:c.A2025T:p.K675N,TMEM94:NM_014738:exon16:c.A2073T:p.K691N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0218194258873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	0.966	0.59353	D	0.395	0.50715	B	0.000000	0.84330	D	0.050402	0.99938	0.52935	D	.	.	.	0.76	0.49919	T	-2.95	0.61580	D	0.723	0.72477	-0.9553	0.40042	T	0.154	0.48360	T	10	0.5192743	0.62548	D	0.021819	0.44639	T	0.145	0.38592	0.321	0.30064	0.567930657579	0.56458	0.5598069692065623	0.55907	0.787649090982	0.65612	0.672972619534	0.63261	T	0.303215	0.67558	T	-0.199289	0.20907	T	-0.524041	0.19885	T	0.898129820823669	0.55016	D	0.927307	0.73215	D	0.40428758	0.61028	0.31461704	0.57453	0.40428758	0.61028	0.31461704	0.57452	-10.154	0.74829	D	.	.	0.688	0.72478	P	.;.;.	.;.;.	3.428633	0.47640	22.5	0.93488277129773756	0.23288	0.89331	0.49731	D	AEGBI	0.628771	0.61074	D	0.0029709180831782	0.41990	2.521709	0.0183601208305388	0.40567	2.423147	0.803456503678171	0.24227	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.73	2.67	0.30756	2.493000	0.44979	3.372000	0.37939	-0.576000	0.04747	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.3454:0.0:0.6546:0.0	9.831	0.40107	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1902.33	37	chr17	75493089	.	A	T	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.052;DP=832;ExcessHet=0;FS=5.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=0.857;SOR=1.265	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr17	75498310	75498310	G	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon27:c.G3655T:p.V1219F,TMEM94:NM_001351203:exon27:c.G3652T:p.V1218F,TMEM94:NM_001321149:exon28:c.G3637T:p.V1213F,TMEM94:NM_001351202:exon28:c.G3577T:p.V1193F,TMEM94:NM_014738:exon28:c.G3625T:p.V1209F	.	408	1095	19	0	0	19	0.00860118	.	.	.	1327950	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.155056088545	0.0007	.	0.0008	0	0.0008	0	0	0.0011	0.0022	0.0008	0.0006792	105	154602	rs148064514	0.0006	0.0006	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	0.0002	0.0009	3.826e-05	0	0	0.0113	0.0006	0.0013	0.0014	0.0008	0.0008	0.0007	0.0009	0.0019	0.0007	0.0006	0.0010	0.0008	0.0002	0	0.0010	0	0	0	0.0238	0.0010	0.0038	0.0019	0.006	0.61437	D	0.15	0.70582	T	0.033	0.20350	B	0.044	0.24394	B	0.000248	0.46924	D	0.184663	0.998832	0.21869	N	.	.	.	-2.36	0.88143	D	0.37	0.03639	N	0.429	0.56748	-0.5993	0.64846	T	0.381	0.73759	T	10	0.023793697	0.00633	T	0.155056	0.83607	D	0.204	0.49076	.	.	0.579330864044	0.57603	0.6207233054074198	0.62005	0.710468945944	0.61684	0.372884333134	0.21245	T	0.295438	0.66810	T	-0.269809	0.11778	T	-0.195716	0.55051	T	0.0469187983756869	0.04951	T	0.775922	0.41827	T	0.1678509	0.37206	0.11175337	0.26959	0.20570216	0.42720	0.0975176	0.23214	-2.715	0.07430	T	.	.	0.128	0.29833	B	.;.;.;.;.	.;.;.;.;.	2.500577	0.32279	18.99	0.93800537670540718	0.23769	0.68280	0.33742	D	AEFDGBCIJ	0.215676	0.34101	N	-0.71056249755274	0.15724	0.7949536	-0.525978678368697	0.21449	1.160364	0.919339152586816	0.26598	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	3.51	0.39297	2.678000	0.46566	0.576000	0.19656	-0.122000	0.13826	1.000000	0.71638	0.003000	0.18671	0.955000	0.50612	0.7266:0.131:0.1424:0.0	6.519	0.21463	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.012228	0.008772	0.000000	0.017241	0.003049	0.003788	0.02632	3285.33	34	chr17	75498310	.	G	T	3285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=863;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.968;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr17	75498319	75498319	C	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon27:c.C3664T:p.P1222S,TMEM94:NM_001351203:exon27:c.C3661T:p.P1221S,TMEM94:NM_001321149:exon28:c.C3646T:p.P1216S,TMEM94:NM_001351202:exon28:c.C3586T:p.P1196S,TMEM94:NM_014738:exon28:c.C3634T:p.P1212S	.	406	1097	19	0	0	19	0.00858563	.	.	.	1327951	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.199	0.0265717152823	0.0007	.	0.0008	0	0.0008	0	0	0.0011	0.0022	0.0008	0.0006856	106	154602	rs141765616	0.0006	0.0006	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	0.0002	0.0009	3.826e-05	0	0	0.0113	0.0006	0.0013	0.0014	0.0008	0.0008	0.0007	0.0009	0.0019	0.0007	0.0006	0.0010	0.0008	0.0002	0	0.0010	0	0	0	0.0238	0.0010	0.0038	0.0019	0.827	0.02913	T	0.609	0.13403	T	0.0	0.02946	B	0.002	0.06944	B	0.360675	0.04301	N	1.331460	0.999393	0.21260	N	.	.	.	-2.36	0.88143	D	0.42	0.03352	N	0.193	0.29313	-0.7209	0.59419	T	0.453	0.78621	T	10	0.020075351	0.00457	T	0.026572	0.49466	D	0.199	0.48268	.	.	0.514980250562	0.51141	0.22415191290823233	0.22330	0.391401638169	0.40341	0.286209315062	0.08373	T	0.272944	0.64536	T	-0.371477	0.03520	T	-0.341756	0.40145	T	0.0125577934538829	0.00208	T	0.660434	0.27701	T	0.047313605	0.08068	0.03554286	0.02826	0.03522418	0.04104	0.037586853	0.03443	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.281978	0.16821	12.78	0.87437724592021837	0.17227	0.42503	0.26892	N	AEFDBCI	0.144054	0.26692	N	-0.704332760368338	0.15900	0.8054004	-0.612691771486698	0.19167	1.027169	0.363836436511243	0.19803	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	-0.382	0.11860	0.375000	0.20248	0.183000	0.15654	0.549000	0.26987	0.834000	0.30193	0.014000	0.20376	0.940000	0.48062	0.37:0.377:0.1197:0.1333	2.688	0.04796	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.005051	0.012228	0.008772	0.000000	0.017241	0.003049	0.003788	0.02632	3399.33	34	chr17	75498319	.	C	T	3399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.417;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.23;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr17	75502046	75502046	C	T	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.G2782A:p.G928R,CASKIN2:NM_020753:exon18:c.G3028A:p.G1010R	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.032974698926	.	0.000599042	8.486e-05	0	0	0.0004	0	0	0	0.0004	8.41e-05	13	154602	rs78142683	0.0001	0.0001	9.266e-05	0.0001	0.0022	9.208e-05	8.673e-05	0.0018	0.0017	2.987e-05	6.709e-05	0	0.0022	0	0.0002	1.259e-05	6.626e-05	0.0005	5.916e-05	5.906e-05	3.858e-05	8.067e-05	0.0010	3.078e-05	2.211e-05	0.0004	0.0002	2.409e-05	0	0	0	0.0010	0	0	0	0	0.0006	0.021	0.49613	D	0.223	0.26798	T	0.58	0.38813	P	0.056	0.26147	B	0.000308	0.45977	D	0.000000	0.639892	0.30625	N	1.1	0.28011	L	-0.77	0.73523	T	0.2	0.04861	N	0.303	0.43514	-0.7683	0.56951	T	0.183	0.53163	T	10	0.03630793	0.01923	T	0.032975	0.54655	D	0.234	0.53644	0.392	0.41606	0.757121291469	0.75491	0.13621485160347033	0.13545	0.657602075448	0.58704	0.779781341553	0.78894	T	0.020351	0.16039	T	-0.164165	0.26122	T	-0.167612	0.57662	T	0.0863275370968207	0.10777	T	0.837416	0.50983	T	0.07660809	0.17335	0.0867658	0.20125	0.07660809	0.17334	0.0867658	0.20124	-3.45	0.15738	T	.	.	0.322	0.70990	B	.;.	.;.	3.527050	0.49472	22.8	0.99905042945429701	0.97576	0.25658	0.22764	N	AEFDGBCI	0.171124	0.29807	N	-0.0548534745348023	0.39385	2.321819	0.0513386812325498	0.42136	2.543447	0.999069115457291	0.38343	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	5.17	0.70848	1.528000	0.35592	7.463000	0.59074	0.549000	0.26987	0.895000	0.31310	1.000000	0.68203	0.614000	0.31742	0.0:0.8348:0.0:0.1652	9.048	0.35518	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1185.33	39	chr17	75502046	.	C	T	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=991;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.62;SOR=0.697	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr17	75502288	75502288	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2540T:p.T847M,CASKIN2:NM_020753:exon18:c.C2786T:p.T929M	.	398	1122	2	0	0	2	0.000890472	.	.	.	2686976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0568354240583	.	.	0.0002	0	0	0	0	0.0003	0	0.0004	4.53e-05	7	154602	rs775974159	4.418e-05	4.446e-05	3.034e-05	5.858e-05	0.0001	3.493e-05	3.143e-05	7.532e-05	5.72e-05	3.2e-05	9.453e-05	0	0	2.641e-05	0	3.663e-05	0.0001	0.0001	5.911e-05	5.906e-05	6.426e-05	5.373e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.989e-05	0	0	0	0	0	0	0.0034	7.354e-05	0	0.0006	0.005	0.65419	D	0.087	0.41239	T	0.994	0.66517	D	0.729	0.55225	P	0.000200	0.48115	D	0.000000	0.514395	0.31845	D	0.975	0.24501	L	-0.52	0.70717	T	-1.41	0.34795	N	0.403	0.44379	-0.4811	0.69327	T	0.323	0.69168	T	10	0.26549584	0.44046	T	0.056835	0.66748	D	0.185	0.45933	.	.	0.537366646314	0.53388	0.0957892500716025	0.09510	0.607307371854	0.55543	0.813550710678	0.84037	D	0.031533	0.22084	T	-0.128732	0.31700	T	-0.207356	0.53948	T	0.384815901517868	0.28367	T	0.822818	0.49094	T	0.06061036	0.12459	0.08561528	0.19779	0.06061036	0.12458	0.08561528	0.19779	-6.805	0.52596	T	.	.	0.122	0.44948	B	.;.	.;.	4.096542	0.61046	24.3	0.99669431565172706	0.78458	0.92317	0.55433	D	AEFDBCI	0.574608	0.57733	D	0.418423424448962	0.62436	4.459384	0.40078797092719	0.61614	4.36398	0.96978361717944	0.29156	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.0	5.0	0.66209	5.517000	0.66777	9.613000	0.81090	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0795:0.0:0.9205:0.0	11.897	0.51942	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1092.33	39	chr17	75502288	.	G	A	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=940;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.141;SOR=0.471	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr17	75503041	75503041	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C1787T:p.A596V,CASKIN2:NM_020753:exon18:c.C2033T:p.A678V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0455701437261	.	.	7.267e-05	0	0	0	0	0.0001	0	6.862e-05	4.53e-05	7	154602	rs766391635	3.439e-05	3.694e-05	2.737e-05	4.148e-05	0.0004	2.645e-05	2.388e-05	7.162e-05	5.509e-05	2.991e-05	4.523e-05	0	0	0	0.0004	3.061e-05	0	0.0001	1.972e-05	1.97e-05	2.571e-05	1.346e-05	4.413e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.146	0.25355	T	0.323	0.27414	T	0.984	0.60733	D	0.241	0.38645	B	0.000294	0.46274	D	0.000000	0.806154	0.29980	N	0.895	0.22405	L	-0.51	0.70597	T	-0.98	0.25986	N	0.308	0.38335	-0.5706	0.65990	T	0.223	0.58652	T	10	0.18569216	0.34001	T	0.04557	0.62042	D	0.183	0.45592	.	.	0.607284945126	0.60413	0.2798865944295119	0.27901	0.520452191899	0.49844	0.677803635597	0.63953	T	0.017199	0.14076	T	-0.123038	0.32627	T	-0.231121	0.51663	T	0.123616591095924	0.14779	T	0.882412	0.61778	D	0.07793541	0.17718	0.10632993	0.25578	0.07793541	0.17718	0.10632993	0.25577	-7.049	0.54696	T	.	.	0.109	0.29311	B	.;.	.;.	5.331810	0.89478	30	0.99898125703285456	0.97048	0.96057	0.67338	D	AEFDBI	0.461793	0.51141	N	0.282599226527313	0.55266	3.690778	0.324510626080226	0.56985	3.862759	0.944422311281029	0.27614	0.706548	0.73137	0	0.626922	0.53725	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	1.392000	0.34095	11.609000	0.93532	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.903000	0.43903	0.0:0.1509:0.8491:0.0	14.037	0.64174	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	764.33	35	chr17	75503041	.	G	A	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.456;SOR=0.668	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1327	18	0	1	0
chr17	75517200	75517200	C	G	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon4:c.C325G:p.R109G	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1496	25	1	0	27	0.00894336	.	.	.	194562	Pontoneocerebellar_hypoplasia|not_specified|not_provided	MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.267	.	0.0010	0.00678914	0.0056	0.0005	0.0014	0	0	0.0017	0	0.0269	0.0030853	477	154602	rs148146916	0.0019	0.0020	0.0014	0.0025	0.0213	0.0019	0.0018	0.0205	0.0201	8.998e-05	0.0006	0.0037	0	0	0.0030	0.0007	0.0023	0.0213	0.0013	0.0013	0.0010	0.0017	0.0230	0.0012	0.0011	0.0195	0.0182	0.0002	0	0.0007	0.0029	0	0	0	0.0009	0.0005	0.0230	0.018	0.59928	D	0.025	0.70582	D	0.047	0.21998	B	0.059	0.26602	B	0.001481	0.38855	N	0.242379	0.608078	0.30884	N	1.445	0.36358	L	-1.81	0.83970	D	-3.54	0.68651	D	0.367	0.40864	-0.1094	0.79881	T	0.417	0.76374	T	10	0.008551449	0.00194	T	.	.	.	0.267	0.58126	.	.	0.926805799581	0.92606	0.5458032042608242	0.54506	0.608453772384	0.55612	0.317740082741	0.13079	T	0.267709	0.63976	T	-0.270992	0.11647	T	-0.145782	0.59615	T	0.0687578601698477	0.08477	T	0.89651	0.64256	D	0.4808818	0.65953	0.4186894	0.65885	0.42776343	0.62606	0.32823434	0.58713	-9.697	0.72078	D	0.16647951875274042	0.20701	0.150	0.42706	B	.;.	.;.	3.664373	0.52068	23.2	0.91801488433305067	0.21107	0.88460	0.48398	D	ALL	0.737126	0.68241	D	0.0483153141468707	0.44064	2.687416	0.164314731901251	0.47905	3.013866	0.999999999166162	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.851219	0.99655	0	0.603991	0.37454	0	.	.	5.3	5.3	0.74745	3.810000	0.55318	2.609000	0.33566	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.989000	0.64315	0.29:0.71:0.0:0.0	12.176	0.53493	976	0.04745	tRNA-splicing endonuclease, subunit Sen54, N-terminal;tRNA-splicing endonuclease, subunit Sen54, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004053	0.000000	0.001366	0.000000	0.000000	0.000000	0.003106	0.022727	0.02632	2957.33	40	chr17	75517200	.	C	G	2957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.063;SOR=0.664	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr17	75570237	75570237	G	T	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon15:c.G1856T:p.R619L,LLGL2:NM_004524:exon15:c.G1856T:p.R619L	.	424	1078	20	0	0	20	0.00919118	.	.	.	2761097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0363862124626	0.0005	.	0.0012	0	0.0012	0	0	0.0015	0.0043	0.0013	0.0006792	105	154602	rs143998947	0.0006	0.0006	0.0006	0.0007	0.0129	0.0006	0.0006	0.0106	0.0097	0.0002	0.0008	0	0	1.96e-05	0.0129	0.0005	0.0014	0.0014	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0008	0.0008	0.0002	0	0.0008	0	0	0	0.0238	0.0010	0.0033	0.0014	0.178	0.25355	T	0.142	0.33330	T	0.175	0.41742	B	0.168	0.38861	B	0.002932	0.35704	N	0.326855	0.746186	0.33877	D	2.125	0.59049	M	0.79	0.49068	T	-3.77	0.71397	D	0.513	0.54409	-0.9196	0.45608	T	0.105	0.38415	T	10	0.06448898	0.08560	T	0.036386	0.56958	D	0.091	0.26358	.	.	0.558147714631	0.55475	0.41642608439942025	0.41558	0.389253285072	0.40171	0.532017409801	0.43319	T	0.28567	0.65846	T	-0.432347	0.01435	T	-0.41844	0.31254	T	0.111242760659551	0.13552	T	0.949505	0.80758	D	0.23143163	0.45915	0.1703636	0.39139	0.23143163	0.45915	0.1703636	0.39138	-8.587	0.65003	D	.	.	0.175	0.40984	B	.;.;.	.;.;.	3.482967	0.48648	22.6	0.93524408447260299	0.23343	0.85872	0.45056	D	AEFBI	0.422925	0.48872	N	-0.315264236871001	0.28568	1.576782	-0.345125943746464	0.26660	1.474027	0.206244299188189	0.18184	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.19	-2.74	0.05582	1.413000	0.34333	4.458000	0.43448	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.5568:0.0:0.3158:0.1274	6.124	0.19389	979	0.04160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009109	0.010417	0.013661	0.011765	0.000000	0.017241	0.006173	0.003788	0.02632	1141.33	40	chr17	75570237	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=2.18;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	18	0	1	0
chr17	75588164	75588164	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon1:c.G107A:p.R36Q	.	936	581	4	1	0	6	0.00513699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.003842	100	26028	rs138310978	0.0077	0.0033	0.0077	0.0076	0.0082	0.0074	0.0073	0.0079	0.0077	0.0011	0.0036	0.0112	0	0.0160	0.0023	0.0082	0.0059	0.0053	0.0068	0.0068	0.0067	0.0068	0.0091	0.0064	0.0063	0.0085	0.0082	0.0018	0.0230	0.0027	0.0124	0	0.0193	0	0.0091	0.0038	0.0048	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	0.999917	0.19599	N	.	.	.	.	.	.	.	.	.	0.061	0.03283	.	.	.	.	.	.	.	0.004285753	0.00086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010639	0.09586	T	.	.	.	.	.	.	.	.	.	0.517348	0.16736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07985	B	.;.	.;.	-0.354299	0.02388	0.265	0.91627651622962736	0.20913	0.01361	0.04657	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999991738432	0.74766	0.199473	0.04044	0	0.225491	0.04819	0	0.215285	0.04585	0	0.104772	0.03119	1	0.0731678	0.17106	2.58	-5.17	0.02632	-2.507000	0.01038	-2.944000	0.03206	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1373:0.2383:0.5048:0.1196	3.172	0.06166	973	0.05605	.;.	.	.	.	.	rs138310978	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	126.33	16	chr17	75588164	.	G	A	126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.517;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.065;SOR=0.368	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	18	0	1	0
chr17	75591171	75591171	G	C	splicing	MYO15B	NM_001309242:exon4:c.2361-1G>C	.	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891663489	1.09e-05	9.542e-06	3.96e-06	1.677e-05	1.893e-05	3.92e-06	2.57e-06	7.8e-06	5.47e-06	0	0	0	0	0	0	1.893e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.446295	0.69071	25.3	0.993219536294915	0.59431	0.97016	0.72204	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999988982086	0.74766	0.214321	0.04125	1	0.287357	0.05204	1	0.129117	0.03641	0	0.085775	0.02375	0	0.964817	0.68067	5.01	5.01	0.66477	4.362000	0.59241	11.023000	0.84978	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.261000	0.23543	0.0:0.0:1.0:0.0	16.077	0.80784	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2771.33	250	chr17	75591171	.	G	C	2771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=993;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.58;SOR=0.587	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1343	18	0	1	0
chr17	75605864	75605864	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon20:c.G4021A:p.V1341I	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0096	0.0020	0	0	0	0.0224	0	0.0047	0.0019275	298	154602	rs193196302	0.0075	0.0067	0.0077	0.0075	0.0097	0.0074	0.0073	0.0094	0.0093	0.0020	0.0038	0.0200	0	0.0010	0.0013	0.0097	0.0089	0.0035	0.0068	0.0068	0.0074	0.0061	0.0103	0.0064	0.0063	0.0097	0.0095	0.0018	0	0.0083	0.0245	0.0002	0.0012	0	0.0103	0.0071	0.0029	.	.	.	0.0	0.92824	D	0.005	0.12996	B	0.018	0.18489	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.0075376034	0.00171	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00914	0.45546	T	.	.	.	.	.	.	.	.	.	0.69773	0.30785	T	0.0587924	0.11869	0.2652379	0.52354	0.0587924	0.11869	0.2652379	0.52353	-8.359	0.63491	D	.	.	0.120	0.33550	B	.;.;.	.;.;.	2.469450	0.31825	18.86	0.85625356662593555	0.16010	0.50179	0.28603	D	AEFDGBI	0.069964	0.13870	N	.	.	.	.	.	.	0.00517669286733197	0.10852	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.62	2.58	0.30011	0.256000	0.18120	2.093000	0.30559	0.672000	0.70159	0.739000	0.29016	1.000000	0.68203	0.426000	0.27362	0.1836:0.0:0.8164:0.0	9.138	0.36047	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain	RP11-449J21.3	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	628.33	35	chr17	75605864	.	G	A	628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.878;DP=717;ExcessHet=0;FS=1.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.753;SOR=0.955	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,106,1272	18	0	1	0
chr17	75610907	75610907	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon22:c.G4280A:p.R1427H	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0087	0	0	0	0	0	0	4.53e-05	7	154602	rs559390057	8.534e-05	7.475e-05	0.0001	7.043e-05	0.0010	6.572e-05	5.889e-05	0.0006	0.0005	0.0010	0.0003	0	0	2.972e-05	0	4.417e-05	0.0002	1.593e-05	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	0.093	0.07262	.	.	.	.	.	.	.	0.004292935	0.00086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008655	0.07935	T	.	.	.	.	.	.	.	.	.	0.189081	0.04066	T	0.021770375	0.00797	0.03817859	0.03631	0.021770375	0.00797	0.03817859	0.03631	-4.076	0.24935	T	.	.	0.063	0.02861	B	.;.;.	.;.;.	0.507802	0.08767	5.543	0.55828302139088937	0.05424	0.00828	0.03334	N	AEFDGBHCI	0.031439	0.03364	N	.	.	.	.	.	.	0.999999999998719	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.42	-0.745	0.10538	-0.556000	0.06082	-2.192000	0.04078	-0.655000	0.04372	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.3763:0.189:0.4347:0.0	5.421	0.15699	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	892.33	34	chr17	75610907	.	G	A	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.653;DP=691;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.389;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr17	75616380	75616380	-	AGGAGGAGG	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon37:c.6064_6065insAGGAGGAGG:p.E2033_Q2034insEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260648085	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	9.443e-05	0.0004	0.0003	0.0002	0.0007	0	0	0	0.0003	0.0001	7.523e-05	2.157e-05	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0001	0.0007	0.0006	0.0003	0	0.0011	0	0	0	0	7.431e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3155.45	39	chr17	75616380	.	C	CAGGAGGAGG	3155.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.214;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1451	18	0	1	0
chr17	75616381	75616386	AGGAGG	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon37:c.6065_6070del:p.E2032_E2033del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs368250560	0.0018	0.0030	0.0017	0.0019	0.0133	0.0017	0.0017	0.0116	0.0110	0.0133	0.0014	0.0003	0.0003	0.0003	0.0003	0.0011	0.0023	0.0053	0.0043	0.0043	0.0046	0.0040	0.0130	0.0040	0.0039	0.0121	0.0117	0.0130	0	0.0015	0	0.0002	0.0003	0	0.0010	0.0029	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3155.45	39	chr17	75616380	.	CAGGAGG	C	3155.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.441;DP=835;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.214;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1451	18	0	1	0
chr17	75620337	75620337	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon47:c.C7421T:p.P2474L	.	414	1097	11	0	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0007	0	0	0	0	0	0	0.0013	0.0001358	21	154602	rs139045226	0.0005	0.0004	0.0004	0.0006	0.0020	0.0004	0.0004	0.0010	0.0009	6.327e-05	0.0008	9.987e-05	0	0	0.0020	0.0004	0.0007	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	0.0007	0.0003	0	0	0	0.0004	0.0005	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.367	0.57092	.	.	.	.	.	.	.	0.07581034	0.11763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117541	0.43769	T	.	.	.	.	.	.	.	.	.	0.880112	0.59716	D	0.3026054	0.53137	0.34946382	0.60571	0.3026054	0.53137	0.34946382	0.60570	-11.46	0.82121	D	.	.	0.241	0.57442	B	.;.;.	.;.;.	4.429073	0.68673	25.3	0.89972232774819205	0.19266	0.83607	0.42713	D	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999638	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.216804	0.04610	0	0.109439	0.03173	0	0.946516	0.61129	4.57	4.57	0.55860	1.855000	0.39018	7.595000	0.61372	0.549000	0.26987	0.899000	0.31403	1.000000	0.68203	0.188000	0.21541	0.0:1.0:0.0:0.0	15.895	0.79108	976	0.04745	SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1876.33	44	chr17	75620337	.	C	T	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=837;ExcessHet=0;FS=7.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0;SOR=1.326	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	75621511	75621511	A	G	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon51:c.A7832G:p.Q2611R	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.720873	0.29923	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.1519	0.78869	T	0.482	0.80220	T	8	0.21313232	0.37794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082259	0.36786	T	.	.	.	.	.	.	.	.	.	0.592541	0.21854	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.;.	.;.	1.119988	0.15057	11.55	0.94839205322768705	0.25627	0.38931	0.26099	N	AEFBCI	.	.	.	-0.218764950595555	0.32365	1.824411	-0.259195682887464	0.29455	1.650421	0.999632212585654	0.41205	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	0.753643	0.44766	4.64	4.64	0.57399	0.021000	0.13381	0.414000	0.18144	0.756000	0.94297	0.000000	0.06391	0.653000	0.25975	0.316000	0.24877	1.0:0.0:0.0:0.0	13.013	0.58145	976	0.04745	MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	511.33	39	chr17	75621511	.	A	G	511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.105;DP=761;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=-0.36;SOR=0.85	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1252	18	0	1	0
chr17	75624011	75624011	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon54:c.C8105A:p.T2702N	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs751550489	0.0003	0.0003	0.0003	0.0003	0.0081	0.0003	0.0003	0.0059	0.0052	6.326e-05	0.0006	0	0	0	0.0081	0.0003	0.0009	9.558e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.811e-05	0	0.0008	0.0003	0	0	0.0170	0.0003	0.0024	0	.	.	.	0.403	0.14865	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.5810	0.65578	T	0.497	0.80946	T	8	0.054035902	0.05690	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002916	0.02309	T	.	.	.	.	.	.	.	.	.	0.641436	0.25361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19357	B	.;.	.;.	0.519081	0.08879	5.658	0.76614137560323259	0.11539	0.04785	0.10499	N	AEFBCI	.	.	.	-0.79555855345723	0.13425	0.6612687	-0.805839432362407	0.14354	0.7495772	0.993954104947561	0.33426	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.421255	0.06892	1	0.115792	0.24182	4.47	2.45	0.28953	-0.211000	0.09336	1.169000	0.24610	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.390000	0.26558	0.3085:0.6049:0.0:0.0866	6.798	0.22921	976	0.04745	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2469.33	86	chr17	75624011	.	C	A	2469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=1666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.788;SOR=0.689	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	18	0	1	0
chr17	75625594	75625594	C	G	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon60:c.C8758G:p.L2920V	.	410	1091	21	0	0	21	0.00953246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	.	0.000998403	0.0028	0	0	0	0	0.0025	0	0.0034	0.0003234	50	154602	rs564022563	0.0012	0.0011	0.0011	0.0013	0.0071	0.0011	0.0011	0.0051	0.0044	0	0.0006	0.0055	0	0	0.0071	0.0009	0.0019	0.0026	0.0006	0.0006	0.0004	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0011	0.0026	0	0	0.0068	0.0006	0.0019	0.0023	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.294	0.33250	-0.6477	0.62814	T	0.423	0.76737	T	8	0.003847152	0.00073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028546	0.20653	T	.	.	.	.	.	.	.	.	.	0.694731	0.30434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.;.	.;.	1.149868	0.15376	11.81	0.99084931350454142	0.52051	0.05948	0.11905	N	AEFDGBCI	.	.	.	-0.38507930557464	0.26000	1.415667	-0.570569366133307	0.20262	1.090843	0.999759720509196	0.42595	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.567892	0.33627	0	0.121126	0.24771	4.9	1.54	0.22290	0.161000	0.16298	-0.189000	0.11056	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.6112:0.167:0.2218	5.242	0.14797	976	0.04745	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	750.33	38	chr17	75625594	.	C	G	750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.722;DP=722;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.165;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1374	18	0	1	0
chr17	75740047	75740047	G	A	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon19:c.G2422A:p.A808T,ITGB4:NM_000213:exon20:c.G2422A:p.A808T,ITGB4:NM_001005731:exon20:c.G2422A:p.A808T,ITGB4:NM_001321123:exon20:c.G2422A:p.A808T	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	1	1510	11	0	0	11	0.00362917	.	.	.	329900	Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_5A,_intermediate|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_1C,_localized|ITGB4-related_disorder|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0468069312617	0.0011	.	0.0013	0.0002	0.0008	0	0.0002	0.0012	0	0.0040	0.0011578	179	154602	rs147480547	0.0011	0.0011	0.0010	0.0012	0.0051	0.0010	0.0010	0.0036	0.0031	0.0002	0.0006	7.663e-05	2.519e-05	0.0004	0.0051	0.0011	0.0010	0.0030	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0004	0	0	0.0003	0.0102	0.0011	0.0024	0.0025	0.005	0.65419	D	0.254	0.23433	T	0.713	0.42139	P	0.124	0.35019	B	0.076495	0.21160	N	0.489617	0.996892	0.22865	N	0.205	0.09354	N	-1.01	0.76168	T	-1.02	0.26843	N	0.305	0.35088	-0.8248	0.53632	T	0.218	0.58007	T	10	0.009006709	0.00204	T	0.046807	0.62629	D	0.128	0.35103	.	.	0.802088982772	0.80024	0.17809287036914884	0.17728	0.392990782166	0.40477	0.320725917816	0.13531	T	0.086676	0.37775	T	-0.387272	0.02801	T	-0.331487	0.41304	T	0.0197603377159105	0.00678	T	0.856214	0.54490	D	0.06800812	0.14778	0.06894139	0.14461	0.06214681	0.12947	0.08394124	0.19275	-4.114	0.25496	T	0.15059445363326615	0.17701	0.075	0.05711	B	.;.;.;.	.;.;.;.	2.444966	0.31476	18.75	0.83698386518773016	0.14870	0.39634	0.26256	N	AEFDBHCI	0.239543	0.36149	N	-0.354362780571885	0.27113	1.484929	-0.356770165904518	0.26300	1.451806	0.0342301573221937	0.14144	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.94	3.96	0.45097	1.799000	0.38459	3.218000	0.36838	0.676000	0.76740	0.124000	0.23245	0.999000	0.35428	0.319000	0.24947	0.0:0.1391:0.5474:0.3135	9.024	0.35377	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.000000	0.008772	0.000000	0.008621	0.006135	0.011364	0.02632	1174.33	33	chr17	75740047	.	G	A	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.189;DP=700;ExcessHet=0;FS=5.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.01;SOR=0.279	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	18	0	1	0
chr17	75742728	75742728	C	T	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon24:c.C2929T:p.R977C,ITGB4:NM_000213:exon25:c.C2929T:p.R977C,ITGB4:NM_001005731:exon25:c.C2929T:p.R977C,ITGB4:NM_001321123:exon25:c.C2929T:p.R977C	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	347256	Inborn_genetic_diseases|Nephrotic_syndrome|not_provided|Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_5A,_intermediate|not_specified	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|MedGen:C3661900|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.617	0.101177935826	0.0027	0.00139776	0.0028	0.0005	0.0012	0.0001	0.0015	0.0031	0.0012	0.0065	0.0026196	405	154602	rs145976111	0.0029	0.0029	0.0028	0.0031	0.0120	0.0029	0.0028	0.0097	0.0089	0.0005	0.0017	0.0064	0.0002	0.0018	0.0120	0.0028	0.0034	0.0061	0.0023	0.0023	0.0024	0.0022	0.0048	0.0021	0.0020	0.0033	0.0028	0.0006	0.0055	0.0017	0.0040	0.0002	0.0019	0.0102	0.0032	0.0047	0.0048	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.912	0.70163	D	0.000270	0.46590	D	0.139500	0.999995	0.58761	D	1.67	0.42885	L	-1.03	0.76430	T	-3.4	0.67014	D	0.773	0.78832	-0.2472	0.76435	T	0.332	0.69910	T	10	0.031034738	0.01234	T	0.101178	0.77390	D	0.617	0.85091	.	.	0.905751909215	0.90481	0.7102794823181707	0.70969	1.15290462371	0.79275	0.60603672266	0.53757	T	0.560695	0.85289	D	-0.0817355	0.39431	T	0.112428	0.77733	D	0.0309897797421017	0.02145	T	0.982502	0.94093	D	0.53830844	0.69301	0.23947915	0.49297	0.4565671	0.64458	0.23470946	0.48693	-8.121	0.62337	D	0.32080955891696905	0.41893	0.361	0.57280	A	.;.;.;.	.;.;.;.	5.786628	0.93550	33	0.99271310610921526	0.57559	0.94808	0.62400	D	AEFBI	0.735280	0.68114	D	0.523707873455371	0.68495	5.225	0.553436444758145	0.71637	5.685199	0.0521623657753597	0.14897	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	3.182000	0.50611	7.550000	0.60255	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.2674:0.7326:0.0:0.0	13.202	0.59196	969	0.06854	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.002717	0.011696	0.000000	0.008621	0.015244	0.034091	0.02632	1117.33	33	chr17	75742728	.	C	T	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.017;SOR=0.98	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1433	18	0	1	0
chr17	75749019	75749024	CCACCA	-	exonic	ITGB4	.	nonframeshift deletion	ITGB4:NM_001005619:exon26:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_000213:exon27:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_001005731:exon27:c.3290_3295del:p.T1098_T1099del,ITGB4:NM_001321123:exon27:c.3290_3295del:p.T1098_T1099del	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	187.32	191	chr17	75749018	.	TCCACCA	T	187.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.11;DP=918;ExcessHet=0;FS=130.635;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.5;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1159:.	18	0	1	0
chr17	75749030	75749030	-	GGGTTG	exonic	ITGB4	.	nonframeshift insertion	ITGB4:NM_001005619:exon26:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_000213:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_001005731:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV,ITGB4:NM_001321123:exon27:c.3301_3302insGGGTTG:p.I1101delinsRVV	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	196.29	188	chr17	75749030	.	A	AGGGTTG	196.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.402;DP=947;ExcessHet=0;FS=129.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=2.57;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,108,1620:.	18	0	1	0
chr17	75828014	75828014	C	A	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon32:c.G3224T:p.R1075L	Hemophagocytic lymphohistiocytosis, familial, 3	0	1520	2	0	0	2	0.000657462	.	.	YES	938223	not_provided|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:C3661900|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.438	0.157606483225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs377594755	1.664e-05	1.642e-05	1.653e-05	1.676e-05	0.0011	1.126e-05	9.46e-06	0.0005	0.0003	0	0	0	0	0	0.0011	1.45e-05	0	2.393e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0.0003	0	0	0.0034	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.889	0.63100	P	0.019353	0.27277	N	0.327701	0.999529	0.47407	D	2.79	0.81396	M	-0.63	0.72785	T	-3.62	0.69593	D	0.391	0.57775	-0.1599	0.78673	T	0.431	0.77258	T	10	0.53828615	0.63573	D	0.157606	0.83816	D	0.438	0.74235	0.459	0.52590	0.80614021022	0.80432	0.6466818981652382	0.64603	0.365555439521	0.38146	0.528571367264	0.42832	T	0.49968	0.82059	T	0.0777429	0.61776	D	-0.0160457	0.69288	D	0.93242073059082	0.59846	D	0.90211	0.65873	D	0.2760778	0.50670	0.2871783	0.54728	0.2760778	0.50670	0.2871783	0.54727	-6.186	0.53078	T	0.3318502247317745	0.42985	0.214	0.54213	B	.;.	.;.	3.702885	0.52822	23.3	0.99780849370933611	0.86780	0.89195	0.49515	D	ALL	0.638773	0.61707	D	0.454003161807005	0.64429	4.697465	0.410755183465262	0.62234	4.435446	0.999999999798637	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.338622	0.05889	2	0.249971	0.05119	0	.	.	5.37	4.4	0.52402	2.576000	0.45698	0.405000	0.18046	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.816000	0.38450	0.0:0.8486:0.0:0.1514	11.347	0.48804	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr17	75828014	.	C	A	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.073;DP=746;ExcessHet=0;FS=4.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.106;SOR=0.34	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1435	18	0	1	0
chr17	75828796	75828796	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon31:c.G3142A:p.A1048T	Hemophagocytic lymphohistiocytosis, familial, 3	2	1516	4	0	0	4	0.00131752	.	.	.	531897	Inborn_genetic_diseases|Familial_hemophagocytic_lymphohistiocytosis_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0277504685914	.	.	0.0002	0	0	0.0020	0	0	0	0.0003	1.94e-05	3	154602	rs758781229	4.668e-05	6.362e-05	3.541e-05	5.827e-05	0.0007	3.753e-05	3.419e-05	0.0002	9.51e-05	0	2.791e-05	0	2.773e-05	0	0.0007	3.431e-05	0.0002	0.0002	3.282e-05	3.281e-05	6.423e-05	0	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.88e-05	0	0	0.056	0.40319	T	0.172	0.30241	T	0.414	0.35185	B	0.026	0.20792	B	0.190540	0.16859	N	0.601504	1	0.08975	N	1.735	0.44892	L	-0.36	0.69027	T	-0.56	0.17003	N	0.138	0.14054	-1.0055	0.28307	T	0.132	0.44386	T	10	0.02714479	0.00866	T	0.02775	0.50522	D	0.081	0.23632	0.18	0.08751	0.451118754121	0.44735	0.415447528461492	0.41460	0.0938026689721	0.10595	0.332325816154	0.15286	T	0.076403	0.35409	T	-0.221117	0.17842	T	-0.555396	0.16812	T	0.0709956644946415	0.08789	T	0.585041	0.21304	T	0.04067574	0.05850	0.063032225	0.12424	0.04067574	0.05850	0.063032225	0.12423	-3.383	0.16125	T	0.0942750276413584	0.06291	0.075	0.08368	B	.;.	.;.	1.761488	0.22403	15.61	0.9873053746483802	0.45348	0.01162	0.04188	N	AEFDGBHI	0.047312	0.07954	N	-0.957916849672042	0.09515	0.4507193	-0.968812711271269	0.10490	0.5286572	0.992534279552083	0.32874	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.65	-1.26	0.08892	0.538000	0.22869	-1.368000	0.05605	-0.319000	0.05888	0.003000	0.16062	0.000000	0.08366	0.951000	0.49849	0.0:0.4009:0.0:0.5991	11.174	0.47815	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005160	0.005376	0.004144	0.009091	0.050000	0.008621	0.006289	0.007692	0.02632	794.33	34	chr17	75828796	.	C	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.586;DP=696;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.743;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1008	18	0	1	0
chr17	75843489	75843489	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon2:c.G148A:p.E50K	Hemophagocytic lymphohistiocytosis, familial, 3	.	.	.	.	.	.	.	.	.	YES	3846010	Familial_hemophagocytic_lymphohistiocytosis_3	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.0255801772335	.	.	2.29e-05	0	0	0	0	4.034e-05	0	0	1.29e-05	2	154602	rs756652448	5.487e-06	6.156e-06	4.092e-06	6.897e-06	7.201e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.201e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.039	0.52727	D	0.001	0.07471	B	0.001	0.04355	B	0.004061	0.34172	N	0.132235	0.858147	0.28397	N	1.415	0.35607	L	-0.33	0.76168	T	-0.31	0.14782	N	0.264	0.29889	-0.9812	0.34724	T	0.167	0.50534	T	10	0.10441393	0.19248	T	0.02558	0.48542	D	0.120	0.33359	0.316	0.29258	0.7388678204	0.73653	0.25424502465607324	0.25338	0.110598979453	0.12488	0.517856657505	0.41324	T	0.064106	0.32349	T	-0.0757736	0.40401	T	-0.331134	0.41343	T	0.0894659207866369	0.11153	T	0.737926	0.35508	T	0.05872773	0.11850	0.05617314	0.09989	0.05872773	0.11850	0.05617314	0.09988	-5.363	0.40562	T	0.10851873376571088	0.08955	0.080	0.33342	B	.;.;.;.;.	.;.;.;.;.	1.729097	0.22006	15.44	0.99207809372682221	0.55503	0.22718	0.21840	N	AEFDBHCI	0.193742	0.32085	N	-0.639934911475836	0.17753	0.916248	-0.608460153328506	0.19276	1.033464	0.999999946500429	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.33	3.36	0.37579	0.598000	0.23774	2.123000	0.30732	-0.171000	0.11205	0.000000	0.06391	0.974000	0.29927	0.003000	0.05239	0.1816:0.5431:0.1761:0.0992	3.028	0.05729	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	733.33	42	chr17	75843489	.	C	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=733;ExcessHet=0;FS=5.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.437;SOR=1.296	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1173	18	0	1	0
chr17	75892350	75892350	G	A	exonic	TRIM65	.	nonsynonymous SNV	TRIM65:NM_001256124:exon3:c.C661T:p.R221W,TRIM65:NM_173547:exon3:c.C661T:p.R221W	.	427	1042	53	0	0	53	0.0248011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0024	0.00359425	0.0064	0.0001	0.0028	0.0002	0.0002	0.0032	0.0117	0.0311	0.005291	818	154602	rs61755877	0.0035	0.0035	0.0025	0.0045	0.0307	0.0034	0.0034	0.0297	0.0293	0.0004	0.0023	0.0229	0.0001	1.906e-05	0.0225	0.0011	0.0056	0.0307	0.0024	0.0024	0.0020	0.0029	0.0290	0.0022	0.0021	0.0251	0.0236	0.0004	0.0011	0.0026	0.0207	0.0002	0	0.0068	0.0013	0.0028	0.0290	0.016	0.51853	D	0.015	0.61642	D	0.998	0.73220	D	0.613	0.51171	P	0.173909	0.03132	N	1.724360	1	0.08975	N	1.87	0.49600	L	0.36	0.57880	T	-3.67	0.70191	D	0.259	0.29313	-0.8487	0.52058	T	0.138	0.45526	T	10	0.00396809	0.00076	T	.	.	.	0.155	0.40530	.	.	0.739974470535	0.73764	0.2111008556687348	0.21026	0.483196287518	0.47276	0.191761597991	0.00258	T	0.055148	0.29924	T	-0.455149	0.01053	T	-0.403569	0.32970	T	0.0366843157272724	0.03100	T	0.832017	0.49964	T	0.08446091	0.19549	0.06466375	0.12992	0.08446091	0.19549	0.06466375	0.12991	-7.779	0.59554	D	.	.	0.101	0.17742	B	.	.	2.832073	0.37339	20.5	0.99794347351836044	0.88017	0.17820	0.20001	N	AEFBCI	0.127836	0.24537	N	-0.449269725839586	0.23765	1.278494	-0.573457599988271	0.20186	1.086438	0.999962415006191	0.48965	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.23	3.23	0.36150	1.424000	0.34456	1.653000	0.27856	0.676000	0.76740	0.005000	0.17040	0.004000	0.18990	0.008000	0.08271	0.0:0.0:0.6719:0.3281	11.729	0.50995	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.010101	0.020380	0.011696	0.000000	0.017241	0.012195	0.034091	0.02632	1173.33	37	chr17	75892350	.	G	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=827;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.337;SOR=1.086	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	18	0	1	0
chr17	75904698	75904698	G	C	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon2:c.C89G:p.P30R	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0208824014659	0.0008	.	0.0010	0	0.0004	0	0	0.0018	0	8.886e-05	0.0006792	105	154602	rs369217975	0.0006	0.0006	0.0006	0.0007	0.0019	0.0006	0.0006	0.0011	0.0008	3.029e-05	0.0006	0.0227	0	0	0.0019	0.0002	0.0019	0.0001	0.0007	0.0007	0.0008	0.0006	0.0003	0.0006	0.0006	0.0002	0.0002	9.664e-05	0	0.0002	0.0219	0	0	0	0.0003	0.0024	0	0.049	0.39820	D	0.053	0.47336	T	0.09	0.25173	B	0.063	0.27082	B	0.110183	0.19452	U	0.318405	0.999999	0.29502	N	1.78	0.46185	L	1.49	0.31470	T	-0.41	0.14000	N	0.176	0.18920	-1.0366	0.18357	T	0.060	0.24945	T	10	0.004417509	0.00090	T	0.020882	0.43558	T	0.074	0.21613	.	.	0.49676076625	0.49313	0.46620314099118343	0.46539	0.294017301875	0.31822	0.52874571085	0.42857	T	0.004455	0.03857	T	-0.441721	0.01263	T	-0.546337	0.17678	T	0.0757209172975347	0.09431	T	0.816718	0.47282	T	0.1472127	0.33663	0.13370344	0.32056	0.1472127	0.33663	0.13370344	0.32055	-2.14	0.03759	T	.	.	0.099	0.16843	B	.	.	3.576286	0.50395	22.9	0.99558450776290286	0.71583	0.75814	0.37140	D	AEFDGBCIJ	0.649341	0.62383	D	-0.352202132177032	0.27191	1.489882	-0.305262275379607	0.27929	1.553294	0.999999999933663	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.43	3.41	0.38145	6.040000	0.70618	8.418000	0.77142	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.0752:0.0:0.7796:0.1453	9.289	0.36936	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.003817	0.02632	573.33	56	chr17	75904698	.	G	C	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.92;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr17	75904860	75904860	A	G	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon1:c.T16C:p.W6R	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.360057109932	.	0.000998403	0.0018	0	0	0	0	0.0040	0.0086	0.0010	0.0004269	66	154602	rs566150682	0.0047	0.0045	0.0048	0.0047	0.0042	0.0046	0.0046	0.0041	0.0040	0.0004	0.0013	0.0038	3.224e-05	0.0474	0.0015	0.0042	0.0046	0.0007	0.0067	0.0067	0.0049	0.0086	0.0063	0.0063	0.0062	0.0058	0.0056	0.0007	0	0.0013	0.0039	0	0.0567	0	0.0063	0.0057	0.0009	0.029	0.45756	D	0.033	0.53072	D	0.679	0.41373	P	0.146	0.33945	B	0.216012	0.16251	U	0.353696	1	0.81001	D	2.3	0.65703	M	1.55	0.29866	T	-0.41	0.14000	N	0.417	0.45709	-1.0928	0.05082	T	0.056	0.23565	T	10	0.006161213	0.00139	T	0.360057	0.92489	D	0.151	0.39764	0.666	0.80401	0.219573609325	0.21563	0.3582979833173833	0.35743	0.732726945152	0.62802	0.755910933018	0.75321	T	0.007621	0.07015	T	-0.409516	0.02002	T	-0.349342	0.39280	T	0.0787164563936236	0.09821	T	0.590841	0.21745	T	0.25623605	0.48662	0.23441918	0.48658	0.25623605	0.48662	0.23441918	0.48657	-2.028	0.03288	T	.	.	0.437	0.61567	A	.	.	2.307293	0.29529	18.15	0.97363928222197305	0.33588	0.08830	0.14700	N	AEFGBHCIJ	0.165388	0.29187	N	-0.382858359099233	0.26079	1.420604	-0.393484089551366	0.25190	1.38383	0.999999999999799	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.36	0.37579	1.277000	0.32772	3.605000	0.39235	0.651000	0.53179	0.951000	0.33123	1.000000	0.68203	0.070000	0.16646	0.6017:0.3138:0.0845:0.0	6.069	0.19105	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.005882	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.02632	362.33	57	chr17	75904860	.	A	G	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.081;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=-0.331;SOR=0.784	GT:AD:DP:GQ:PL	0/0:23,0:23:69:0,69,646	18	0	1	0
chr17	75917943	75917943	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon21:c.G2374A:p.E792K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0007	0.00579073	0.0054	0.0002	0.0016	0	0	0.0014	0.0051	0.0309	0.0033505	518	154602	rs200931077	0.0020	0.0020	0.0014	0.0026	0.0229	0.0019	0.0019	0.0220	0.0217	0.0001	0.0008	0.0079	2.535e-05	1.921e-05	0.0049	0.0005	0.0029	0.0229	0.0014	0.0014	0.0011	0.0017	0.0251	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0008	0.0063	0	0	0.0068	0.0006	0.0028	0.0251	.	.	.	0.242	0.24264	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	0.571568	0.31174	N	0.83	0.20963	L	2.07	0.20387	T	.	.	.	0.21	0.23380	-1.0096	0.27043	T	0.027	0.11663	T	9	0.0032892823	0.00056	T	.	.	.	.	.	.	.	0.178374595973	0.17440	0.526060498412847	0.52530	.	.	0.384982585907	0.22961	T	0.035175	0.23617	T	-0.584967	0.00180	T	-0.595456	0.13196	T	0.0109724181880645	0.00158	T	0.878912	0.59457	D	0.028503684	0.02197	0.09198557	0.21655	0.028503684	0.02196	0.09198557	0.21654	-9.338	0.71400	D	.	.	0.083	0.09143	B	.;.;.	.;.;.	1.349720	0.17571	13.24	0.99304965169442605	0.58759	0.22981	0.21927	N	AEFBHCI	0.092865	0.18795	N	-0.878510925890006	0.11355	0.547524	-0.857239898997625	0.13114	0.6784976	3.55692540363587E-4	0.06668	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-1.05	0.09523	0.509000	0.22414	-0.186000	0.11084	0.587000	0.30956	0.061000	0.21800	0.000000	0.08366	0.596000	0.31288	0.0:0.5678:0.2175:0.2147	7.778	0.28214	828	0.39726	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.001362	0.005848	0.000000	0.000000	0.003049	0.034091	0.02632	686.33	35	chr17	75917943	.	C	T	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=696;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.856;SOR=0.376	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1213	18	0	1	0
chr17	75921291	75921291	A	G	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon16:c.T1627C:p.C543R	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0003	0.0113818	0.0107	0	0.0743	0.0532	0.0012	0.0008	0.0053	0.0145	0.0049676	768	154602	rs149105732	0.0022	0.0023	0.0019	0.0024	0.0248	0.0021	0.0021	0.0236	0.0231	0.0002	0.0248	0	0.0180	0.0009	0.0031	0.0002	0.0038	0.0111	0.0030	0.0030	0.0028	0.0032	0.0277	0.0028	0.0027	0.0240	0.0226	0.0004	0	0.0126	0	0.0277	0.0006	0	0.0003	0.0052	0.0131	.	.	.	0.4	0.15010	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.3	0.16953	T	.	.	.	0.107	0.09207	-1.0015	0.29488	T	0.010	0.03811	T	9	0.0031125844	0.00052	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.29950660036042104	0.29863	.	.	0.35454428196	0.18588	T	0.033312	0.22860	T	-0.719549	0.00028	T	-0.786762	0.02255	T	0.00767586512083416	0.00089	T	0.408659	0.10529	T	0.21657169	0.44119	0.20557135	0.44732	0.21657169	0.44119	0.20557135	0.44731	-1.451	0.01667	T	.	.	0.085	0.17530	B	.;.;.	.;.;.	-0.621664	0.01514	0.096	0.26109745824211805	0.01235	0.02207	0.06435	N	AEFBI	0.097593	0.19680	N	-1.82035312717328	0.00497	0.02140268	-1.96463229033373	0.00363	0.01603274	0.99971168334012	0.42101	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.1	-10.2	0.00305	-2.286000	0.01233	-0.085000	0.12129	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1319:0.5972:0.2709:0.0	12.866	0.57330	823	0.40596	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	1735.33	150	chr17	75921291	.	A	G	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=781;ExcessHet=0;FS=2.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.952;SOR=0.728	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1471	18	0	1	0
chr17	75948415	75948415	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_001185039:exon13:c.C1657T:p.R553C,ACOX1:NM_004035:exon13:c.C1771T:p.R591C,ACOX1:NM_007292:exon13:c.C1771T:p.R591C	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	256457	not_provided|Acyl-CoA_oxidase_deficiency|not_specified|ACOX1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	0.0095	0.013778	0.0038	0.0260	0.0025	0	0	0.0016	0.0055	0.0028	0.003758	581	154602	rs35629489	0.0020	0.0020	0.0020	0.0020	0.0270	0.0019	0.0019	0.0255	0.0250	0.0270	0.0034	0.0087	0	0	0.0128	0.0010	0.0042	0.0029	0.0087	0.0087	0.0085	0.0090	0.0259	0.0083	0.0082	0.0246	0.0241	0.0259	0	0.0062	0.0089	0.0002	0	0.0170	0.0013	0.0052	0.0037	0.004	0.65419	D	0.067	0.44302	T	0.268	0.36540	B	0.045	0.31143	B	0.000003	0.62929	D	0.099482	0.954204	0.37866	D	2.97	0.85306	M	0.85	0.47130	T	-3.82	0.71997	D	0.688	0.69387	-0.6081	0.64483	T	0.080	0.31735	T	10	0.018170953	0.00393	T	.	.	.	0.335	0.65718	.	.	0.609094465904	0.60595	0.5070001610935612	0.50622	0.54065144501	0.51256	0.32819890976	0.14661	T	0.654573	0.89559	D	-0.362422	0.03995	T	-0.273099	0.47506	T	0.0385937900678613	0.03437	T	0.916108	0.70062	D	0.21927117	0.44454	0.18200777	0.41100	0.21743071	0.44226	0.18375361	0.41384	-4.18	0.26461	T	0.315368797098266	0.41340	0.156	0.35498	B	.;.	.;.	4.128750	0.61766	24.4	0.99914957238359692	0.98309	0.95532	0.65096	D	AEFBI	0.804815	0.72957	D	0.378049603987913	0.60235	4.210158	0.318088061416153	0.56604	3.823808	0.181577181804373	0.17878	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	5.616000	0.67389	5.816000	0.50045	0.676000	0.76740	1.000000	0.71638	0.994000	0.32194	0.624000	0.32000	0.0:0.0:1.0:0.0	19.738	0.96212	742	0.52873	.;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015152	0.040404	0.012228	0.005848	0.000000	0.025862	0.012346	0.000000	0.05263	1699.83	34	chr17	75948415	.	G	A	1699.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.119;FS=0.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.59;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	17	0	2	0
chr17	75991600	75991600	T	A	exonic	TEN1	.	nonsynonymous SNV	TEN1:NM_001113324:exon3:c.T227A:p.L76H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0438968889457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000765	0.41888	U	0.000000	0.66037	0.81001	D	2.83	0.82355	M	.	.	.	-6.26	0.90608	D	0.886	0.88466	-0.1105	0.79856	T	0.333	0.70043	T	9	0.88374996	0.87694	D	0.043897	0.61216	D	0.492	0.77847	.	.	0.245101548738	0.24120	0.8828770626978398	0.88255	.	.	.	.	.	0.332305	0.70229	T	0.406376	0.90279	D	0.345954	0.90157	D	0.956735193729401	0.64832	D	.	.	.	0.7579091	0.81330	0.7047212	0.82594	0.7579091	0.81331	0.7047212	0.82595	-9.763	0.72480	D	.	.	0.826	0.78536	P	.	.	3.768015	0.54107	23.4	0.98426456276621321	0.41343	0.95243	0.63969	D	AEFDBI	0.579945	0.58055	D	0.540927760007335	0.69532	5.370235	0.483115440172343	0.66872	5.008867	0.975243016747257	0.29615	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.872000	0.62744	7.538000	0.60033	0.609000	0.47794	0.615000	0.27871	1.000000	0.68203	0.209000	0.22154	0.0:0.0:0.0:1.0	13.581	0.61367	718	0.55760	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1769.33	34	chr17	75991600	.	T	A	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.962;DP=782;ExcessHet=0;FS=4.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.633;SOR=0.366	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	18	0	1	0
chr17	76007149	76007149	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G6122A:p.R2041H,EVPL:NM_001988:exon22:c.G6056A:p.R2019H	.	.	.	.	.	.	.	.	.	.	.	3954662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0148507174411	.	.	9.317e-06	0	8.828e-05	0	0	0	0	0	6.5e-06	1	154602	rs767348774	5.943e-06	1.437e-05	4.356e-06	7.606e-06	7.809e-05	2.56e-06	1.85e-06	2.07e-05	1.074e-05	3.329e-05	3.478e-05	0	7.809e-05	0	0	9.484e-07	0	2.925e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.257	0.36365	T	0.004	0.12183	B	0.001	0.04355	B	0.014234	0.28595	N	0.278558	0.999983	0.18612	N	1.1	0.28011	L	-0.75	0.73311	T	-1.17	0.29933	N	0.09	0.16028	-1.0595	0.11880	T	0.087	0.33606	T	10	0.071079314	0.10429	T	0.014851	0.35231	T	0.023	0.04649	0.367	0.37524	0.662269450481	0.65943	0.3374269890737583	0.33655	0.232953537669	0.25832	0.246266901493	0.03385	T	0.07645	0.47967	T	-0.203361	0.20320	T	-0.529891	0.19298	T	0.121238775551319	0.14551	T	0.746125	0.37284	T	0.04009889	0.05660	0.035238687	0.02738	0.04009889	0.05660	0.035238687	0.02738	-4.311	0.28330	T	.	.	0.093	0.14201	B	.;.;.	.;.;.	1.857872	0.23599	16.08	0.9922332990210625	0.55963	0.36021	0.25437	N	AEFDGBI	0.111183	0.22021	N	-0.563732088145495	0.20055	1.054411	-0.404133413705217	0.24875	1.364693	0.715535767799482	0.22870	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.48	0.99	0.18926	0.173000	0.16538	-0.442000	0.09154	0.599000	0.40250	0.937000	0.32526	0.020000	0.20764	0.954000	0.50415	0.1587:0.3983:0.0:0.443	3.965	0.08921	705	0.57330	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	526.33	34	chr17	76007149	.	C	T	526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.296;DP=721;ExcessHet=0;FS=4.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.291;SOR=0.307	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr17	76010322	76010322	C	G	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G2949C:p.E983D,EVPL:NM_001988:exon22:c.G2883C:p.E961D	.	401	1104	16	1	0	18	0.00808625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0306489969412	0.0029	0.00279553	0.0045	0.0004	0.0014	0	0.0003	0.0055	0.0055	0.0093	0.0041397	640	154602	rs148533039	0.0038	0.0038	0.0036	0.0041	0.0121	0.0038	0.0037	0.0099	0.0090	0.0006	0.0015	0.0589	0	0.0002	0.0121	0.0024	0.0076	0.0093	0.0030	0.0030	0.0032	0.0027	0.0075	0.0027	0.0026	0.0055	0.0049	0.0005	0	0.0014	0.0527	0	0.0002	0.0136	0.0025	0.0047	0.0075	0.01	0.56456	D	0.026	0.55759	D	0.979	0.59044	D	0.604	0.50922	P	0.000065	0.52346	D	0.127911	0.51691	0.31601	N	2.83	0.82355	M	-0.11	0.64630	T	-2.03	0.46673	N	0.402	0.46180	-0.3992	0.72052	T	0.205	0.56362	T	10	0.004966855	0.00106	T	0.030649	0.52913	D	0.161	0.41658	0.117	0.02508	0.663968203398	0.66114	0.2623366917122307	0.26146	0.705443509024	0.61392	0.369297981262	0.20731	T	0.242154	0.61083	T	-0.375163	0.03341	T	-0.305275	0.44164	T	0.0653555037325935	0.07983	T	0.722728	0.33613	T	0.32339334	0.54925	0.34764948	0.60416	0.32339334	0.54925	0.34764948	0.60415	-6.028	0.46514	T	.	.	0.248	0.49693	B	.;.	.;.	3.331203	0.45857	22.2	0.99704804404606828	0.80867	0.90146	0.51096	D	AEFBI	0.615866	0.60265	D	0.279037752638346	0.55087	3.673053	0.239856434455143	0.52075	3.384824	0.469864391691247	0.20698	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.66	2.57	0.29928	1.225000	0.32154	1.089000	0.23963	0.583000	0.30283	1.000000	0.71638	0.471000	0.25053	0.987000	0.62547	0.0:0.767:0.0:0.233	10.756	0.45438	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.012228	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1296.33	34	chr17	76010322	.	C	G	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=767;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.279;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	18	0	1	0
chr17	76017851	76017851	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon14:c.G1664A:p.R555Q,EVPL:NM_001988:exon14:c.G1598A:p.R533Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	2347886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0132275582795	0.0003	.	0.0002	0.0002	8.663e-05	0.0001	0.0002	0.0001	0	0.0010	0.000194	30	154602	rs148670879	0.0001	0.0001	9.802e-05	0.0001	0.0006	9.536e-05	9.017e-05	0.0005	0.0005	5.974e-05	0.0001	0	7.557e-05	1.877e-05	0.0005	6.834e-05	0.0002	0.0006	9.196e-05	9.193e-05	0.0001	8.066e-05	0.0003	5.526e-05	4.363e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.518	0.07307	T	0.715	0.05434	T	0.008	0.14655	B	0.002	0.06944	B	0.375595	0.13463	N	0.714751	1	0.08975	N	-0.205	0.04094	N	0.01	0.62762	T	-0.31	0.12099	N	0.136	0.16586	-0.9795	0.35117	T	0.092	0.35201	T	10	0.020521015	0.00474	T	0.013228	0.32470	T	0.042	0.11227	.	.	0.314716216878	0.31082	0.055409354603118376	0.05481	0.21452012786	0.23985	0.193342387676	0.00290	T	0.08595	0.37616	T	-0.573556	0.00211	T	-0.64709	0.09160	T	0.00685284080327761	0.00077	T	0.490951	0.18022	T	0.028963035	0.02316	0.054091576	0.09236	0.028963035	0.02316	0.054091576	0.09236	-3.248	0.13076	T	.	.	0.063	0.03811	B	.;.	.;.	-0.000635	0.04276	1.068	0.93347027460177623	0.23079	0.07511	0.13526	N	AEFDBI	0.099232	0.19980	N	-1.23065619054583	0.04561	0.2061006	-1.14969600624976	0.06773	0.327179	0.00174666228405931	0.08839	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.88	-2.89	0.05326	0.054000	0.14087	-6.289000	0.01441	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.0:0.4638:0.0:0.5362	12.188	0.53561	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	674.33	34	chr17	76017851	.	C	T	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=2.1;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	18	0	1	0
chr17	76046088	76046088	G	A	exonic	SRP68	.	nonsynonymous SNV	SRP68:NM_001260503:exon4:c.C232T:p.R78C,SRP68:NM_001260502:exon10:c.C1135T:p.R379C,SRP68:NM_014230:exon11:c.C1249T:p.R417C	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.00342867495576	0.0058	0.00259585	0.0054	0.0014	0.0029	0	0.0020	0.0080	0.0055	0.0030	0.0056274	870	154602	rs143880770	0.0075	0.0075	0.0077	0.0073	0.0090	0.0074	0.0074	0.0088	0.0087	0.0013	0.0026	0.0041	0	0.0025	0.0007	0.0090	0.0063	0.0029	0.0052	0.0053	0.0058	0.0047	0.0095	0.0049	0.0048	0.0089	0.0086	0.0014	0	0.0024	0.0032	0	0.0022	0	0.0095	0.0033	0.0035	0.001	0.78490	D	0.077	0.53426	T	0.617	0.39849	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	.	.	.	-2.64	0.56630	D	0.595	0.67045	-0.7111	0.59898	T	0.148	0.47326	T	9	0.008862287	0.00201	T	0.003429	0.07725	T	0.489	0.77656	.	.	0.42264334713	0.41881	0.4094643858051151	0.40862	0.868574480996	0.69314	0.539014339447	0.44306	T	0.230198	0.59621	T	0.0324956	0.56057	T	0.287527	0.87521	D	0.040273888658641	0.03740	T	0.892111	0.62800	D	0.36990395	0.58578	0.31441233	0.57433	0.36990395	0.58578	0.31441233	0.57433	-9.681	0.75870	D	.	.	0.610	0.74794	P	.;.;.	.;.;.	4.722605	0.75979	26.4	0.998998550898337	0.97199	0.96232	0.68144	D	AEFBI	0.669163	0.63669	D	0.442728688358695	0.63792	4.619841	0.541609875311684	0.70814	5.561058	0.122389408680373	0.16913	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	4.606000	0.60832	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8514:0.1486	14.269	0.65690	677	0.60274	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001761	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.004167	0.02632	1749.33	36	chr17	76046088	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=753;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.62;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	76079939	76079939	G	A	exonic	ZACN	.	nonsynonymous SNV	ZACN:NM_180990:exon4:c.G319A:p.A107T	.	404	1106	12	0	0	12	0.00539568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0025	0.00259585	0.0072	0.0004	0.0041	0	0.0671	0.0077	0.0045	0.0022	0.0039844	616	154602	rs144683704	0.0039	0.0039	0.0038	0.0039	0.0079	0.0038	0.0037	0.0060	0.0054	0.0005	0.0018	0.0015	5.159e-05	0.0325	0.0079	0.0030	0.0030	0.0021	0.0055	0.0055	0.0038	0.0073	0.0047	0.0052	0.0051	0.0042	0.0041	0.0003	0.0011	0.0045	0.0006	0	0.0399	0	0.0047	0.0028	0.0021	0.355	0.12109	T	0.17	0.30436	T	0.256	0.31372	B	0.044	0.24394	B	0.853333	0.07071	N	1.084160	1	0.08975	N	1.6	0.40776	L	-1.23	0.78860	T	-0.13	0.08971	N	0.103	0.08646	-0.9585	0.39461	T	0.181	0.52767	T	10	0.003950417	0.00076	T	.	.	.	0.085	0.24743	.	.	0.104622674875	0.10061	0.09183660513373698	0.09116	0.0748045010102	0.08394	0.249536663294	0.03719	T	0.01882	0.15105	T	-0.511729	0.00491	T	-0.503695	0.21964	T	0.00601794847300107	0.00066	T	0.419058	0.11093	T	0.12057512	0.28370	0.081916794	0.18655	0.12057512	0.28370	0.081916794	0.18655	-3.221	0.12739	T	.	.	0.073	0.04477	B	.	.	0.082091	0.04879	1.466	0.67348265895289328	0.08328	0.03533	0.08724	N	AEFDBHCI	0.073499	0.14702	N	-0.992117351117047	0.08771	0.4125465	-1.1286710932932	0.07156	0.3470633	0.99999995839411	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.606814	0.37721	0	0.526665	0.08891	0	.	.	3.86	-2.88	0.05342	-0.206000	0.09400	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4158:0.1458:0.2713:0.1671	1.005	0.01392	676	0.60355	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012614	0.000000	0.014986	0.017544	0.000000	0.034483	0.009202	0.011364	0.02632	802.33	33	chr17	76079939	.	G	A	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.061;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.261;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	18	0	1	0
chr17	76101266	76101266	C	A	exonic	EXOC7	.	nonsynonymous SNV	EXOC7:NM_001282314:exon4:c.G422T:p.R141M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0378504159536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.004	0.74150	D	0.32	0.32998	B	0.244	0.38795	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.48	0.15379	N	0.448	0.48596	-0.8015	0.55056	T	0.198	0.55315	T	7	0.3191113	0.49302	T	0.03785	0.57866	D	0.124	0.34239	0.405	0.43738	0.723402577445	0.72095	.	.	.	.	.	.	.	0.100992	0.40732	T	-0.0610733	0.42738	T	-0.325504	0.41969	T	0.42159089687041	0.29749	T	0.159784	0.01435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	4.505170	0.70502	25.5	0.93455728792751869	0.23240	0.98943	0.88962	D	AEFBI	0.880621	0.80740	D	0.700131903697102	0.79642	7.120684	0.68219019462069	0.81027	7.431805	0.99999999521943	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.84	5.84	0.93373	4.935000	0.63199	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	20.139	0.98050	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	319.83	33	chr17	76101266	.	C	A	319.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.285;DP=931;ExcessHet=0.119;FS=180.589;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.34;SOR=8.349	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	17	0	2	0
chr17	76140348	76140348	C	G	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon2:c.G48C:p.E16D	.	404	1108	10	0	0	10	0.00449236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0047	0.00678914	0.0046	0.0408	0	0	0	0.0002	0	0.0004	0.0011061	171	154602	rs199833164	0.0005	0.0006	0.0006	0.0005	0.0193	0.0005	0.0005	0.0179	0.0174	0.0193	0.0012	0	0	0	0.0062	4.048e-05	0.0017	0.0001	0.0060	0.0060	0.0062	0.0058	0.0206	0.0057	0.0056	0.0194	0.0190	0.0206	0	0.0023	0	0	0	0.0034	0.0002	0.0061	0	0.026	0.46910	D	0.393	0.15355	T	0.808	0.45299	P	0.099	0.30579	B	0.008805	0.30655	N	0.251491	0.782543	0.29316	N	1.245	0.31408	L	-3.31	0.93835	D	-0.76	0.21215	N	0.1	0.08227	-0.4755	0.69530	T	0.192	0.54521	T	10	0.0027004182	0.00042	T	.	.	.	0.230	0.53062	0.081	0.00694	0.543491909164	0.54003	0.22033655141293154	0.21948	0.957395983082	0.72880	0.796161949635	0.81378	T	0.229721	0.59562	T	-0.365483	0.03829	T	-0.283488	0.46446	T	0.0200599221288951	0.00707	T	0.506749	0.16047	T	0.09780145	0.23060	0.10713539	0.25785	0.09780145	0.23059	0.10713539	0.25785	-4.525	0.31214	T	.	.	0.078	0.06896	B	.	.	2.146192	0.27331	17.43	0.99560439928982758	0.71707	0.23138	0.21978	N	AEFDBHCI	0.124337	0.24035	N	-0.422880859376139	0.24670	1.333668	-0.42928983426059	0.24142	1.320383	0.991013903793373	0.32344	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.61	1.6	0.22686	0.036000	0.13706	.	.	0.583000	0.30283	0.033000	0.20612	0.997000	0.33255	0.996000	0.76049	0.0:0.617:0.1802:0.2027	5.582	0.16537	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007284	0.016667	0.005587	0.018072	0.000000	0.009259	0.000000	0.000000	0.02632	1387.33	37	chr17	76140348	.	C	G	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=738;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.44;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr17	76212479	76212479	C	T	exonic	RNF157	.	nonsynonymous SNV	RNF157:NM_001330501:exon2:c.G92A:p.S31N,RNF157:NM_052916:exon2:c.G92A:p.S31N	.	439	1032	50	1	0	52	0.0245747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0014	0.00439297	0.0040	0.0002	0.0028	0.0002	0	0.0024	0.0089	0.0172	0.0035834	554	154602	rs145563025	0.0025	0.0025	0.0019	0.0031	0.0294	0.0024	0.0024	0.0258	0.0244	0.0007	0.0025	0.0070	2.525e-05	9.374e-05	0.0294	0.0012	0.0038	0.0177	0.0020	0.0020	0.0016	0.0024	0.0191	0.0018	0.0017	0.0160	0.0148	0.0002	0	0.0039	0.0069	0.0006	0	0.0170	0.0015	0.0047	0.0191	0.722	0.03903	T	1.0	0.01155	T	0.04	0.22573	B	0.034	0.28435	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.165	0.08973	N	1.35	0.34648	T	1.93	0.00441	N	0.117	0.15469	-1.0613	0.11434	T	0.028	0.11838	T	10	0.0083604455	0.00190	T	.	.	.	0.102	0.29158	.	.	0.474010150167	0.47029	0.43531005608033446	0.43448	0.130603283098	0.14734	0.849575042725	0.89550	D	7.26E-4	0.00333	T	-0.569197	0.00224	T	-0.576109	0.14894	T	0.0164951619601506	0.00413	T	0.791921	0.43410	T	0.23026057	0.45778	0.20029142	0.43953	0.23026057	0.45778	0.20029142	0.43952	1.219	0.00124	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	2.579462	0.33439	19.34	0.38023827303438879	0.02540	0.95870	0.66508	D	AEFGBI	0.533016	0.55264	D	-0.436235635924758	0.24210	1.305587	-0.169370979244719	0.32671	1.861016	0.985398335579897	0.30879	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.79	4.82	0.61641	1.369000	0.33832	.	.	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9262:0.0:0.0738	14.122	0.64726	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022704	0.020408	0.020436	0.026316	0.050000	0.025862	0.036585	0.018939	0.02632	796.33	39	chr17	76212479	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.724;DP=736;ExcessHet=0;FS=1.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.437;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	18	0	1	0
chr17	76278151	76278151	G	A	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon15:c.C4457T:p.A1486V	.	427	1094	1	0	0	1	0.00045683	.	.	.	3208566	QRICH2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0002	0.00319489	0.0010	0.0004	0.0002	0.0123	0	7.603e-05	0	6.079e-05	0.0009185	142	154602	rs76267026	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0002	0.0058	0.0055	0.0002	8.944e-05	0.0001	0.0064	0	0.0012	8.094e-05	0.0005	4.637e-05	0.0005	0.0005	0.0004	0.0005	0.0098	0.0004	0.0003	0.0077	0.0069	0.0001	0	6.531e-05	0.0003	0.0098	0	0	0.0001	0	0.0002	0.06	0.37326	T	0.076	0.42614	T	0.974	0.57829	D	0.301	0.41090	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	2.67	0.12473	T	-2.3	0.51157	N	0.201	0.22228	-0.9915	0.32218	T	0.060	0.25054	T	9	0.0044852495	0.00092	T	.	.	.	0.126	0.34673	.	.	0.0138822411134	0.00435	0.16588696905673345	0.16508	0.208528588573	0.23325	0.313671112061	0.12462	T	0.007437	0.06846	T	-0.56364	0.00241	T	-0.572018	0.15265	T	0.0452957054030525	0.04655	T	0.626037	0.24205	T	0.051063556	0.09321	0.07612426	0.16827	0.040450286	0.05774	0.086846896	0.20148	-5.52	0.42054	T	.	.	0.091	0.15654	B	.;.	.;.	1.074118	0.14567	11.13	0.92548196962953522	0.21996	0.02028	0.06083	N	AEFDBI	0.032002	0.03534	N	-0.7232188785817	0.15370	0.7740018	-0.838372512825137	0.13567	0.7045432	0.926095186104533	0.26839	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	5.44	-2.1	0.06809	-0.386000	0.07428	.	.	-1.059000	0.01621	0.000000	0.06391	0.053000	0.21875	0.754000	0.35928	0.1662:0.4122:0.2086:0.213	2.183	0.03642	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	680.33	38	chr17	76278151	.	G	A	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.658;DP=696;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.804;SOR=0.31	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	18	0	1	0
chr17	76279089	76279089	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon14:c.G4370A:p.R1457H	.	417	1098	7	0	0	7	0.00317749	.	.	.	2808412	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.216	.	0.0002	0.00459265	0.0027	0.0006	0.0002	0.0008	0	0	0.0012	0.0183	0.0022186	343	154602	rs200114137	0.0012	0.0012	0.0006	0.0017	0.0183	0.0011	0.0011	0.0176	0.0173	0.0006	8.946e-05	0	0.0002	0	0.0009	2.608e-05	0.0014	0.0183	0.0008	0.0008	0.0004	0.0012	0.0217	0.0007	0.0007	0.0184	0.0171	0.0004	0	0	0	0.0006	0	0.0034	1.47e-05	0	0.0217	0.001	0.78490	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.960486	0.38183	D	2.625	0.76847	M	2.57	0.13552	T	-4.28	0.76334	D	0.444	0.48227	-0.9632	0.38567	T	0.120	0.41865	T	9	0.008320928	0.00189	T	.	.	.	0.216	0.50959	.	.	0.253726318573	0.24972	0.6005369794552415	0.59984	0.680876912155	0.60020	0.370040714741	0.20837	T	0.087359	0.37925	T	-0.292594	0.09376	T	-0.178787	0.56635	T	0.0866588075609747	0.10817	T	0.854015	0.53996	D	0.34820002	0.56926	0.40773153	0.65110	0.3414808	0.56397	0.37275136	0.62477	-8.45	0.64097	D	.	.	0.186	0.48978	B	.;.	.;.	4.362296	0.67097	25.0	0.9991172259955855	0.98095	0.64056	0.32284	D	AEFDBI	0.236402	0.35886	N	0.659316130212472	0.76972	6.586092	0.596060072539662	0.74656	6.174467	0.99999999993783	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.44	5.44	0.79348	3.516000	0.53194	.	.	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.483000	0.28633	0.0:1.0:0.0:0.0	18.203	0.89781	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	822.33	34	chr17	76279089	.	C	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.273;DP=736;ExcessHet=0;FS=4.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.883;SOR=0.637	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr17	76281902	76281902	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon8:c.G3727A:p.V1243I	.	395	1125	2	0	0	2	0.000888099	.	.	.	2808415	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0046	0.00179712	0.0040	0.0011	0.0055	0	0.0011	0.0058	0.0068	0.0004	0.0040491	626	154602	rs147155048	0.0052	0.0052	0.0055	0.0050	0.0064	0.0051	0.0051	0.0063	0.0062	0.0010	0.0031	0.0014	5.038e-05	0.0009	0.0003	0.0064	0.0044	0.0003	0.0036	0.0036	0.0041	0.0031	0.0060	0.0034	0.0033	0.0055	0.0053	0.0013	0	0.0044	0.0020	0	0.0007	0	0.0060	0.0047	0.0004	0.319	0.23450	T	0.36	0.16964	T	0.025	0.19245	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	0.89	0.45636	T	-0.42	0.14193	N	0.069	0.04188	-1.0168	0.24755	T	0.031	0.13461	T	9	0.0045847595	0.00095	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.08159134108200064	0.08094	0.131183739364	0.14795	0.307181119919	0.11480	T	0.012401	0.10910	T	-0.712362	0.00031	T	-0.78664	0.02258	T	0.00141203152457436	0.00014	T	0.19558	0.02146	T	0.02626547	0.01662	0.029670127	0.01330	0.024179325	0.01224	0.03205322	0.01884	-5.611	0.42892	T	.	.	0.068	0.05668	B	.;.;.	.;.;.	-0.194324	0.03119	0.498	0.78868403037661328	0.12488	0.05602	0.11507	N	AEFGBI	0.049498	0.08558	N	-1.33039123249462	0.03332	0.1486868	-1.27978958173148	0.04704	0.2225152	0.530648177521331	0.21172	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.55	1.21	0.20240	-0.347000	0.07799	.	.	-3.025000	0.00137	0.004000	0.16614	0.204000	0.23592	0.002000	0.04165	0.1288:0.6286:0.0:0.2426	6.105	0.19289	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.008621	0.003086	0.003788	0.02632	1123.33	39	chr17	76281902	.	C	T	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.329;DP=725;ExcessHet=0;FS=2.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.153;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr17	76399842	76399842	A	G	exonic	UBE2O	.	nonsynonymous SNV	UBE2O:NM_022066:exon9:c.T1235C:p.M412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0136903436264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	9.529e-06	2.75e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04548	T	0.381	0.15939	T	0.0	0.02946	B	0.0	0.01387	B	0.257639	0.03688	N	1.470860	1	0.08975	N	-0.345	0.03330	N	-0.53	0.70833	T	0.85	0.01736	N	0.198	0.21839	-1.0231	0.22704	T	0.140	0.45866	T	10	0.031837553	0.01325	T	0.01369	0.33283	T	0.127	0.34888	0.086	0.00867	0.147330786459	0.14319	0.15339950517368126	0.15261	0.692225342661	0.60651	0.234150201082	0.02289	T	0.017484	0.14257	T	-0.210655	0.19287	T	-0.540368	0.18259	T	0.0255387944520743	0.01344	T	0.472453	0.14032	T	0.016140798	0.00179	0.05291714	0.08811	0.016140798	0.00179	0.05291714	0.08810	-1.386	0.01546	T	.	.	0.059	0.00780	B	.	.	-0.048267	0.03961	0.889	0.69042637814255581	0.08846	0.06118	0.12095	N	AEFGBI	0.042779	0.06680	N	-0.93690836034291	0.09988	0.4752394	-0.859251625640359	0.13066	0.675736	0.0195843764100313	0.13176	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.66	-2.0	0.07024	-0.007000	0.12747	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3274:0.0:0.391:0.2816	4.966	0.13441	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2462.33	34	chr17	76399842	.	A	G	2462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=851;ExcessHet=0;FS=2.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.42;SOR=0.528	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr17	76472823	76472823	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376228:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376229:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376230:exon18:c.G1927A:p.V643M,RHBDF2:NM_024599:exon18:c.G2014A:p.V672M	Tylosis with esophageal cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0312831591121	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316430917	4.85e-06	4.788e-06	5.502e-06	4.188e-06	6.347e-06	2.02e-06	1.3e-06	2.64e-06	1.7e-06	0	0	0	0	0	0	6.347e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.037	0.51737	D	0.991	0.64070	D	0.782	0.57384	P	0.000005	0.62929	D	0.062033	0.999983	0.54805	D	0.8	0.19659	N	2.57	0.13552	T	-1.63	0.39119	N	0.719	0.72120	-1.1401	0.01354	T	0.079	0.31254	T	10	0.5912163	0.66391	D	0.031283	0.53406	D	0.290	0.60924	0.574	0.69826	0.6781604053	0.67542	0.7917269160900299	0.79124	1.00132167106	0.74418	0.649411439896	0.59902	T	0.02872	0.20742	T	0.014505	0.53637	T	-0.216941	0.53031	T	0.892173237317337	0.54323	D	0.962554	0.86792	D	0.33006328	0.55476	0.37887347	0.62955	0.33006328	0.55476	0.37887347	0.62955	-9.851	0.73148	D	.	.	0.420	0.60651	A	.;.;.	.;.;.	5.351748	0.89774	31	0.99822572631865747	0.90502	0.98721	0.86006	D	AEFDGBI	0.920417	0.89236	D	0.600639889200183	0.73216	5.929953	0.587013533812262	0.74008	6.064606	0.999999950566184	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.899000	0.85994	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.189	0.93643	940	0.13648	Peptidase S54, rhomboid domain;.;Peptidase S54, rhomboid domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	584.33	33	chr17	76472823	.	C	T	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.822;SOR=0.646	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1376	18	0	1	0
chr17	76473690	76473690	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376228:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376229:exon15:c.G1691A:p.C564Y,RHBDF2:NM_001376230:exon15:c.G1691A:p.C564Y,RHBDF2:NM_024599:exon15:c.G1778A:p.C593Y	Tylosis with esophageal cancer, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.243221235747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	-0.48	0.70249	T	-10.67	0.99143	D	0.935	0.94077	0.347	0.88292	D	0.600	0.85778	D	10	0.9611144	0.95522	D	0.243221	0.88793	D	0.784	0.92827	0.75	0.88071	0.804080676031	0.80225	0.9798677529001592	0.97977	1.52252279192	0.87447	0.720127105713	0.70065	T	0.560616	0.85285	D	0.361922	0.87400	D	0.282	0.87237	D	0.999830722808838	0.99255	D	0.971703	0.89738	D	0.93640125	0.94881	0.8986176	0.94877	0.93640125	0.94882	0.8986176	0.94878	-13.086	0.89890	D	.	.	0.995	0.95677	P	.;.	.;.	5.095479	0.85110	28.5	0.99803287454360923	0.88817	0.95584	0.65306	D	ALL	0.909453	0.86611	D	0.813502403361346	0.86945	9.050535	0.751231031554089	0.86247	8.829175	0.999999999999998	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.636	0.56748	0	.	.	5.21	5.21	0.72005	6.022000	0.70492	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.752	0.91784	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	790.33	35	chr17	76473690	.	C	T	790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.052;DP=697;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.092;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	18	0	1	0
chr17	76574484	76574484	C	T	exonic	ST6GALNAC2	.	nonsynonymous SNV	ST6GALNAC2:NM_006456:exon3:c.G242A:p.R81H	.	.	.	.	.	.	.	.	.	.	.	3475085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0143299530033	.	.	8.466e-06	0	0	0	0	0	0	6.095e-05	6.5e-06	1	154602	rs767316340	1.519e-05	1.505e-05	1.374e-05	1.666e-05	5.16e-05	9.95e-06	8.49e-06	9.25e-06	4.58e-06	3.029e-05	0	0	5.16e-05	3.817e-05	0	1.088e-05	3.36e-05	3.484e-05	1.328e-05	1.321e-05	0	2.722e-05	0.0002	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.479e-05	0	0.0002	0.091	0.31834	T	0.164	0.31026	T	0.031	0.20130	B	0.006	0.12133	B	0.104048	0.19720	N	0.506251	0.999997	0.08975	N	1.14	0.29013	L	1.42	0.33189	T	-2.27	0.50666	N	0.161	0.16864	-1.0415	0.16860	T	0.048	0.20355	T	10	0.117180794	0.22123	T	0.01433	0.34374	T	0.032	0.07718	0.646	0.78330	0.221734844693	0.21761	0.46828304918134916	0.46747	0.213063653711	0.23811	0.232325062156	0.02145	T	0.075725	0.35247	T	-0.402439	0.02232	T	-0.646724	0.09186	T	0.0347699892971249	0.02769	T	0.651635	0.26249	T	0.057572953	0.11476	0.059842646	0.11297	0.057572953	0.11475	0.059842646	0.11297	-6.892	0.53240	T	.	.	0.086	0.10545	B	.	.	1.814110	0.23053	15.87	0.97252872686825764	0.33052	0.02796	0.07514	N	AEFDBI	0.098708	0.19884	N	-1.16343490789377	0.05562	0.2538947	-1.23653671831033	0.05334	0.2538679	0.00984345942058723	0.11923	0.554377	0.28877	0	0.547309	0.14657	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	4.6	-2.42	0.06164	0.156000	0.16200	.	.	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4618:0.0:0.5382	9.361	0.37360	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	41	chr17	76574484	.	C	T	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.176;SOR=0.714	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr17	76688233	76688233	-	G	exonic	MXRA7	.	frameshift insertion	MXRA7:NM_001363769:exon1:c.414dupC:p.T139Hfs*13	.	418	1100	3	1	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00299521	0.0017	0.0126	0.0015	0	0.0002	0.0006	0.0016	0.0002	0.0001921	5	26028	rs143474444	0.0004	0.0005	0.0005	0.0004	0.0117	0.0004	0.0004	0.0108	0.0104	0.0117	0.0007	3.867e-05	2.521e-05	0.0002	0.0007	0.0001	0.0006	0.0002	0.0030	0.0031	0.0031	0.0030	0.0107	0.0028	0.0027	0.0098	0.0095	0.0107	0	0.0003	0	0	9.477e-05	0.0034	0.0001	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1902.29	40	chr17	76688233	.	T	TG	1902.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=840;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.372;SOR=0.83	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr17	76775071	76775071	G	A	exonic	MFSD11	.	nonsynonymous SNV	MFSD11:NM_001242536:exon10:c.G793A:p.V265M,MFSD11:NM_001242537:exon10:c.G793A:p.V265M,MFSD11:NM_001242532:exon11:c.G949A:p.V317M,MFSD11:NM_001242533:exon12:c.G949A:p.V317M,MFSD11:NM_001242534:exon12:c.G949A:p.V317M,MFSD11:NM_001242535:exon12:c.G949A:p.V317M,MFSD11:NM_001353017:exon12:c.G949A:p.V317M,MFSD11:NM_001353018:exon12:c.G949A:p.V317M,MFSD11:NM_001353019:exon12:c.G949A:p.V317M,MFSD11:NM_024311:exon12:c.G949A:p.V317M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.113494546619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.25154	T	0.072	0.43344	T	0.444	0.77913	B	0.206	0.69900	B	0.000022	0.55875	N	0.157312	0.99995	0.52396	D	2.035	0.55589	M	-1.51	0.81399	D	-1.59	0.38345	N	0.362	0.41360	0.089	0.83967	D	0.587	0.85180	D	10	0.35098064	0.51958	T	0.113495	0.79202	D	0.389	0.70521	0.386	0.40624	0.77215876921	0.77007	0.5823514746423063	0.58164	0.375274958935	0.38983	0.518441021442	0.41406	T	0.081199	0.36540	T	-0.0375309	0.46315	T	-0.291687	0.45596	T	0.66774570941925	0.39237	D	0.909509	0.70254	D	0.100189134	0.23654	0.14299433	0.33999	0.100189134	0.23654	0.14299433	0.33998	-5.131	0.38232	T	.	.	0.334	0.55521	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.543789	0.49785	22.8	0.99831393996182194	0.91284	0.90831	0.52342	D	AEFBI	0.319501	0.42288	N	0.24044712594981	0.53168	3.48698	0.254911135762694	0.52928	3.464604	0.201832108864295	0.18133	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	3.54	0.39650	2.572000	0.45663	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.138:0.0:0.862:0.0	12.197	0.53612	827	0.39843	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.;.;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	35	chr17	76775071	.	G	A	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.42;DP=721;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.46;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1459	18	0	1	0
chr17	76872805	76872805	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon1:c.C56T:p.T19M	.	410	1085	27	0	0	27	0.0122895	.	.	.	2808430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.0889855898824	0.0059	0.00159744	0.0046	0.0019	0.0037	0	0.0021	0.0066	0.0073	0.0019	0.0043014	665	154602	rs191831149	0.0052	0.0052	0.0052	0.0052	0.0092	0.0051	0.0051	0.0072	0.0065	0.0016	0.0027	0.0233	2.519e-05	0.0022	0.0092	0.0055	0.0061	0.0020	0.0043	0.0043	0.0050	0.0035	0.0062	0.0040	0.0039	0.0057	0.0055	0.0015	0.0055	0.0011	0.0256	0	0.0024	0.0170	0.0062	0.0057	0.0017	0.01	0.56456	D	0.025	0.56192	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.18198	N	.	.	.	0.91	0.44856	T	-0.11	0.08653	N	0.078	0.05287	-1.0316	0.19937	T	0.036	0.15509	T	9	0.0034640431	0.00061	T	0.088986	0.75240	D	0.012	0.01476	.	.	0.0762999501168	0.06990	0.27722707716982	0.27635	0.348775011373	0.36740	.	.	.	.	.	.	-0.699134	0.00037	T	-0.773029	0.02670	T	0.00700139624634681	0.00080	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.179	0.38941	B	.	.	0.268398	0.06464	2.937	0.9569627691559579	0.27582	0.00731	0.03065	N	ALL	0.027653	0.02297	N	-1.28791693912018	0.03820	0.1713302	-1.33540545033923	0.03980	0.1868265	0.999999999904632	0.74766	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.648885	0.59868	0	.	.	3.46	-1.48	0.08286	-0.100000	0.10959	.	.	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5778:0.0:0.4222	7.368	0.25959	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005102	0.010870	0.005848	0.000000	0.008621	0.015244	0.003788	0.02632	1552.33	33	chr17	76872805	.	C	T	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.55;DP=726;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-1.129;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1293	18	0	1	0
chr17	76906030	76906030	A	G	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon7:c.A901G:p.I301V,MGAT5B:NM_001199172:exon8:c.A868G:p.I290V,MGAT5B:NM_144677:exon8:c.A868G:p.I290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.00259585	0.0012	0	0	0	0	0	0.0011	0.0091	0.0010284	159	154602	rs571777359	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0071	0.0069	0	2.29e-05	0	2.629e-05	0	0	9.027e-06	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	4.812e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0079	0.273	0.15876	T	0.644	0.09175	T	0.018	0.17786	B	0.007	0.12992	B	0.000019	0.62929	D	0.117279	0.998097	0.44502	D	0.72	0.18721	N	0.92	0.44856	T	-0.42	0.14193	N	0.213	0.23758	-1.0555	0.12908	T	0.100	0.37290	T	10	0.011682868	0.00254	T	.	.	.	0.100	0.28662	0.267	0.21418	0.559773648941	0.55639	0.2615896819477685	0.26071	0.337056872299	0.35705	0.419393599033	0.27753	T	0.027298	0.20020	T	-0.520016	0.00440	T	-0.515038	0.20798	T	0.042270247647246	0.04105	T	0.794521	0.43681	T	0.10904436	0.25782	0.19265366	0.42792	0.10904436	0.25781	0.19265366	0.42791	-4.938	0.36840	T	.	.	0.079	0.15115	B	.;.;.	.;.;.	3.023320	0.40473	21.2	0.99793401603466247	0.87928	0.89561	0.50104	D	AEFDBI	0.520683	0.54544	D	-0.0133302052482191	0.41253	2.464129	0.170114458359675	0.48218	3.040701	0.105225434478483	0.16497	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	5.067000	0.64187	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.772	0.69310	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	104.33	34	chr17	76906030	.	A	G	104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=606;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.17;ReadPosRankSum=-0.728;SOR=1.302	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,970	18	0	1	0
chr17	77209465	77209465	G	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon12:c.G1498T:p.A500S,SEC14L1:NM_001039573:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143998:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143999:exon14:c.G1600T:p.A534S,SEC14L1:NM_003003:exon14:c.G1600T:p.A534S,SEC14L1:NM_001204408:exon16:c.G1600T:p.A534S,SEC14L1:NM_001204410:exon16:c.G1600T:p.A534S	.	431	1066	25	0	0	25	0.0115902	.	.	.	715736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00139776	0.0047	0.0004	0.0011	0	0.0031	0.0054	0.0045	0.0100	0.0044243	684	154602	rs143320926	0.0042	0.0042	0.0040	0.0043	0.0106	0.0041	0.0040	0.0100	0.0098	0.0008	0.0010	0.0026	0	0.0039	0.0021	0.0041	0.0036	0.0106	0.0030	0.0030	0.0028	0.0032	0.0085	0.0028	0.0027	0.0064	0.0057	0.0007	0	0.0017	0.0023	0	0.0041	0	0.0045	0.0028	0.0085	0.561	0.06691	T	0.531	0.24621	T	0.036	0.20732	B	0.02	0.19048	B	0.000000	0.84330	D	0.049517	0.999973	0.53665	D	2.6	0.76081	M	1.09	0.39223	T	-0.49	0.15578	N	0.392	0.46368	-1.0772	0.07901	T	0.058	0.24167	T	10	0.008954972	0.00203	T	.	.	.	0.080	0.23350	.	.	0.49530441419	0.49164	0.36858062195665303	0.36772	0.539670562832	0.51191	0.556917905807	0.46832	T	0.02022	0.15960	T	-0.393963	0.02536	T	-0.330716	0.41388	T	0.0287421153837563	0.01798	T	0.790321	0.45571	T	0.15130615	0.34402	0.117334686	0.28325	0.15130615	0.34402	0.117334686	0.28324	-6.096	0.47076	T	.	.	0.073	0.15296	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.138675	0.42441	21.5	0.8701665812032916	0.16930	0.90976	0.52619	D	AEFDBHCI	0.779930	0.71198	D	-0.160721858344382	0.34779	1.989405	0.0170941891234989	0.40509	2.418674	0.999999992349364	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.196000	0.72018	9.788000	0.81631	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:0.8421:0.1579	13.318	0.59857	988	0.01987	.;GOLD domain;GOLD domain;GOLD domain;.;.;.;GOLD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.015152	0.02632	958.33	34	chr17	77209465	.	G	T	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=733;ExcessHet=0;FS=6.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=2.82;SOR=0.297	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1332	18	0	1	0
chr17	77402692	77402692	G	A	exonic	SEPTIN9	.	nonsynonymous SNV	SEPTIN9:NM_001113493:exon2:c.G689A:p.R230Q,SEPTIN9:NM_001113494:exon2:c.G218A:p.R73Q,SEPTIN9:NM_001293695:exon2:c.G653A:p.R218Q,SEPTIN9:NM_006640:exon2:c.G656A:p.R219Q,SEPTIN9:NM_001113491:exon3:c.G710A:p.R237Q,SEPTIN9:NM_001113492:exon3:c.G218A:p.R73Q	.	1	1511	10	0	0	10	0.00329815	.	.	.	340486	not_provided|SEPTIN9-related_disorder|Amyotrophic_neuralgia|Inborn_genetic_diseases|not_specified	MedGen:C3661900|.|MONDO:MONDO:0008076,MedGen:C1834304,OMIM:162100,Orphanet:2901|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.035546133329	0.0008	0.000599042	0.0008	0.0001	0.0007	0	0.0006	0.0013	0.0013	0	0.0008279	128	154602	rs200031107	0.0013	0.0013	0.0013	0.0012	0.0057	0.0012	0.0012	0.0040	0.0035	0.0005	0.0015	0.0016	0	0.0006	0.0057	0.0014	0.0015	3.583e-05	0.0010	0.0010	0.0011	0.0009	0.0016	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0011	0.0014	0	0.0007	0.0102	0.0016	0.0028	0	0.036	0.45393	D	0.306	0.31833	T	0.065	0.38591	B	0.002	0.31939	B	0.000021	0.00348	N	5.881310	0.999997	0.08975	N	1.735	0.44892	L	1.36	0.77078	T	-0.36	0.13035	N	0.16	0.23632	-0.9937	0.31643	T	0.137	0.45299	T	10	0.011054039	0.00243	T	0.035546	0.56416	D	0.048	0.13305	.	.	0.680950470211	0.67823	0.2124524413882051	0.21161	0.120561991571	0.13576	0.350172877312	0.17947	T	0.024915	0.18734	T	-0.388095	0.02767	T	-0.3758	0.36212	T	0.0164548280003138	0.00411	T	0.926107	0.82903	D	0.038886838	0.05266	0.05927286	0.11097	0.042825956	0.06566	0.05120064	0.08192	-3.315	0.15273	T	0.15105061548730467	0.17790	0.074	0.21125	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.408801	0.30961	18.60	0.9880223569944433	0.46477	0.26754	0.23083	N	AEFDBI	0.086241	0.17485	N	-0.45587986399927	0.23541	1.264915	-0.464506808123158	0.23139	1.260319	0.998380603135267	0.36869	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	1.17	0.19998	1.014000	0.29553	2.483000	0.32949	0.618000	0.50648	0.986000	0.36153	0.997000	0.33255	0.724000	0.34901	0.4476:0.0:0.5524:0.0	7.296	0.25564	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008073	0.005051	0.013587	0.002924	0.000000	0.008621	0.003049	0.000000	0.02632	1269.33	36	chr17	77402692	.	G	A	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.94;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.102;SOR=0.71	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1131	18	0	1	0
chr17	78121043	78121043	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon12:c.C1505T:p.P502L,TMC6:NM_001321185:exon12:c.C1505T:p.P502L,TMC6:NM_001374593:exon12:c.C1505T:p.P502L,TMC6:NM_001374594:exon12:c.C1505T:p.P502L,TMC6:NM_001374596:exon12:c.C1505T:p.P502L,TMC6:NM_001375353:exon12:c.C1505T:p.P502L,TMC6:NM_001375354:exon12:c.C1505T:p.P502L,TMC6:NM_007267:exon12:c.C1505T:p.P502L	Epidermodysplasia verruciformis, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	468427	not_provided|Epidermodysplasia_verruciformis	MedGen:C3661900|MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.633	.	0.0049	0.00219649	0.0087	0.0014	0.0009	0	0.0359	0.0114	0.0114	0.0019	0.0081952	1267	154602	rs75400929	0.0084	0.0084	0.0087	0.0080	0.0085	0.0083	0.0082	0.0084	0.0083	0.0007	0.0014	0.0010	2.519e-05	0.0390	0.0003	0.0085	0.0067	0.0022	0.0072	0.0072	0.0064	0.0081	0.0091	0.0069	0.0067	0.0085	0.0082	0.0013	0	0.0007	0.0026	0	0.0371	0	0.0091	0.0047	0.0021	0.0	0.91255	D	0.002	0.92824	D	0.997	0.90584	D	0.841	0.97372	P	0.000002	0.62929	D	0.059438	0.999942	0.81001	D	2.9	0.83903	M	-0.02	0.76300	T	-9.62	0.98541	D	0.388	0.60495	0.270	0.87076	D	0.539	0.82965	D	10	0.0065681934	0.00149	T	.	.	.	0.633	0.85924	.	.	0.693245939766	0.69060	0.623021277928312	0.62235	0.680927145743	0.60024	0.5122859478	0.40542	T	0.34332	0.71198	T	-0.0871349	0.38547	T	0.110022	0.77574	D	0.0526360698193335	0.05956	T	0.906209	0.68297	D	0.79198456	0.83398	0.62299186	0.78032	0.805803	0.84280	0.62764555	0.78289	-9.352	0.69934	D	.	.	0.193	0.43297	B	.;.;.;.;.	.;.;.;.;.	4.533189	0.71188	25.6	0.99765800395900672	0.85417	0.98003	0.78791	D	AEFDGBCI	0.894373	0.83329	D	0.660535140647336	0.77054	6.601102	0.566720152622439	0.72569	5.830457	0.999999999999669	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	3.93	0.44666	4.461000	0.59851	11.358000	0.92584	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:0.0:1.0:0.0	15.725	0.77510	835	0.38313	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1903.33	33	chr17	78121043	.	G	A	1903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=786;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=2.2;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	18	0	1	0
chr17	78125771	78125771	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon5:c.C385T:p.R129C,TMC6:NM_001321185:exon5:c.C385T:p.R129C,TMC6:NM_001374593:exon5:c.C385T:p.R129C,TMC6:NM_001374594:exon5:c.C385T:p.R129C,TMC6:NM_001374596:exon5:c.C385T:p.R129C,TMC6:NM_001375353:exon5:c.C385T:p.R129C,TMC6:NM_001375354:exon5:c.C385T:p.R129C,TMC6:NM_007267:exon5:c.C385T:p.R129C	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3920904	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.286211315694	.	.	4.244e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771251537	1.201e-05	2.463e-05	1.119e-05	1.286e-05	0.0002	7.32e-06	5.98e-06	8.898e-05	6.269e-05	0	2.593e-05	0	0.0002	0	0	4.594e-06	1.707e-05	3.73e-05	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0002	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.81e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.006	0.72154	D	0.095	0.76473	T	0.182	0.41986	B	0.018	0.33146	B	.	.	.	.	0.999945	0.81001	D	2.115	0.58683	M	0.54	0.54911	T	-3.8	0.79229	D	0.651	0.66443	-0.8115	0.54460	T	0.132	0.44445	T	9	0.5306772	0.63165	D	0.286211	0.90405	D	0.214	0.50650	0.69	0.82748	0.407357902709	0.40350	0.6327032102732578	0.63204	0.265866858698	0.29137	0.640848338604	0.58685	T	0.129709	0.48659	T	0.0850667	0.62629	D	-0.115584	0.62163	T	0.299395650625229	0.24978	T	0.917308	0.70348	D	0.2511442	0.48121	0.18166097	0.41044	0.2511442	0.48121	0.18166097	0.41043	-6.0	0.46280	T	.	.	0.104	0.26482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.671030	0.74647	26.2	0.99782416392012241	0.86867	0.86740	0.46086	D	AEFDBHCI	0.733042	0.67961	D	-0.0510571197288646	0.39556	2.33451	-0.0440903592110355	0.37746	2.214331	0.999999998939079	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.02	3.03	0.34070	3.484000	0.52965	8.152000	0.76714	0.674000	0.70861	0.927000	0.32177	1.000000	0.68203	0.484000	0.28656	0.1012:0.0:0.8988:0.0	9.868	0.40323	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3612.83	36	chr17	78125771	.	G	A	3612.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.677;DP=975;ExcessHet=0.119;FS=1.927;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.725;SOR=0.583	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1862,0,1531	17	0	2	0
chr17	78146420	78146420	G	A	exonic	C17orf99	.	nonsynonymous SNV	C17orf99:NM_001163075:exon1:c.G13A:p.G5R	.	291	1229	1	1	0	3	0.00121902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0133491995469	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs556071895	7.152e-07	6.84e-07	0	1.45e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	6.572e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.571	0.08777	T	0.112	0.26290	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.8	0.22078	N	0.148	0.15046	-1.0321	0.19777	T	0.052	0.22037	T	9	0.037187487	0.02059	T	0.013349	0.32685	T	0.012	0.01476	0.479	0.55823	0.115124310173	0.11017	0.4343603504596069	0.43353	.	.	.	.	.	0.002693	0.02085	T	-0.278161	0.10863	T	-0.637335	0.09864	T	0.239517112016426	0.22397	T	0.528347	0.17454	T	0.13424975	0.31198	0.110246524	0.26580	0.13424975	0.31198	0.110246524	0.26579	-4.038	0.24370	T	.	.	0.202	0.42578	B	.	.	0.590546	0.09587	6.364	0.99120255758828402	0.52958	0.06092	0.12067	N	AEFGBHCI	0.065489	0.12775	N	-1.17949822274299	0.05311	0.2417812	-1.2241806856535	0.05524	0.2634112	0.999999999886707	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.59	0.472	0.15969	-0.756000	0.04882	-1.861000	0.04595	-0.911000	0.02260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.514:0.2323:0.2537	3.545	0.07379	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	289.33	37	chr17	78146420	.	G	A	289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.015;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.198;SOR=0.608	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1362	18	0	1	0
chr17	78164134	78164134	A	G	exonic	C17orf99	.	nonsynonymous SNV	C17orf99:NM_001163075:exon4:c.A410G:p.D137G	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00863159596852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.317	0.19304	T	0.172	0.28767	B	0.048	0.24975	B	0.183686	0.17034	N	0.477238	1	0.08975	N	.	.	.	0.89	0.45636	T	-2.42	0.53096	N	0.088	0.06587	-1.0794	0.07465	T	0.050	0.21261	T	10	0.07614595	0.11858	T	0.008632	0.22804	T	0.030	0.07022	0.368	0.37687	0.0297737177859	0.01360	0.3730676105737638	0.37220	.	.	.	.	.	0.048597	0.28064	T	-0.280732	0.10589	T	-0.641028	0.09593	T	0.115266756512661	0.13961	T	0.441756	0.12241	T	0.10608687	0.25085	0.07947635	0.17896	0.10608687	0.25084	0.07947635	0.17895	-3.085	0.11125	T	.	.	0.122	0.28636	B	.;.	.;.	1.178809	0.15691	12.03	0.87681131900547815	0.17404	0.04187	0.09689	N	AEFDBCI	0.129816	0.24813	N	-0.762314895505424	0.14301	0.7112538	-0.73125309661692	0.16183	0.8549351	0.99082051693823	0.32281	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.53	3.21	0.35933	0.707000	0.25379	1.629000	0.27729	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.510000	0.29244	0.8149:0.0:0.1851:0.0	4.588	0.11689	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	34	chr17	78164134	.	A	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.136;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.66;SOR=0.662	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4268.83	38	chr17	78171999	.	G	C	4268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=881;ExcessHet=0.119;FS=7.291;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=14.77;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	17	0	2	0
chr17	78419597	78419597	G	A	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon9:c.G1603A:p.E535K	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00853110917165	.	.	1.658e-05	0	0	0	0	1.5e-05	0	6.062e-05	1.29e-05	2	154602	rs779345585	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.422	0.14034	T	0.052	0.22494	B	0.003	0.08700	B	0.000197	0.48115	D	0.140596	0.998876	0.45601	D	0.715	0.18665	N	.	.	.	-1.11	0.28703	N	0.18	0.19459	-1.0308	0.20195	T	0.128	0.43564	T	9	0.12888795	0.24520	T	0.008531	0.22557	T	0.056	0.15993	0.362	0.36711	0.331619326243	0.32766	0.5436117093784022	0.54287	0.499014157662	0.48355	0.490827441216	0.37553	T	0.035791	0.23854	T	-0.139155	0.30024	T	-0.437663	0.29070	T	0.308600988179466	0.25357	T	0.890911	0.62511	D	0.10717162	0.25341	0.10018584	0.23946	0.10717162	0.25341	0.10018584	0.23945	-5.357	0.40504	T	.	.	0.093	0.13830	B	.	.	2.715618	0.35508	19.92	0.99415282876326128	0.63501	0.95001	0.63078	D	AEFBI	0.211744	0.33750	N	-0.386216317333919	0.25960	1.413153	-0.234997507572481	0.30291	1.704286	0.998219778544661	0.36589	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	3.54	0.39650	2.056000	0.40981	4.261000	0.42805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.3934:0.6066:0.0	15.578	0.76151	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1778.33	36	chr17	78419597	.	G	A	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.664;DP=751;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.39;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	18	0	1	0
chr17	78425545	78425545	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon80:c.T12942G:p.F4314L	.	412	1084	25	1	0	27	0.0123007	.	.	.	2743798	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0038	0.00299521	0.0044	0.0012	0.0062	0	0.0007	0.0058	0.0024	0.0038	0.003771	583	154602	rs142772880	0.0053	0.0053	0.0052	0.0053	0.0242	0.0052	0.0051	0.0209	0.0197	0.0014	0.0055	0.0134	2.52e-05	0.0004	0.0242	0.0056	0.0065	0.0029	0.0037	0.0037	0.0041	0.0034	0.0068	0.0035	0.0034	0.0057	0.0053	0.0013	0	0.0068	0.0110	0	9.411e-05	0.0306	0.0049	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.916	0.27404	N	.	.	.	3.16	0.07711	T	.	.	.	0.57	0.59308	-0.9675	0.37713	T	0.006	0.01981	T	10	0.00745973	0.00169	T	.	.	.	0.175	0.44197	.	.	0.0297737177859	0.01360	0.5449803849516415	0.54424	.	.	0.748355150223	0.74204	T	.	.	.	-0.521545	0.00431	T	-0.520711	0.20221	T	0.0173064823741163	0.00470	T	0.785321	0.42297	T	0.11460729	0.27055	0.16420396	0.38051	0.07551805	0.17020	0.18249997	0.41180	-3.741	0.19925	T	.	.	0.877	0.81307	P	.;.	.;.	1.777454	0.22601	15.69	0.9392157783064361	0.23963	0.19837	0.20814	N	AEFDBHI	0.316403	0.42070	N	-1.08477754553124	0.06923	0.3200948	-1.04085411498331	0.08899	0.4398413	0.991231989670277	0.32418	0.67177	0.52595	0	0.702456	0.74545	0	0.473483	0.07196	2	0.711	0.71501	0	.	.	4.75	-3.72	0.04125	-0.235000	0.09031	-6.528000	0.01374	-0.122000	0.13826	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.703:0.0:0.1687:0.1283	8.278	0.31045	917	0.20147	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021695	0.020202	0.021739	0.035088	0.000000	0.025862	0.021605	0.000000	0.02632	1313.33	41	chr17	78425545	.	A	C	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.135;DP=811;ExcessHet=0;FS=4.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.992;SOR=0.363	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	18	0	1	0
chr17	78451519	78451519	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon66:c.C10684T:p.L3562F	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0342041138146	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs772270560	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0.0005	8.995e-07	3.313e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	1.34	0.34841	T	.	.	.	0.762	0.76481	0.072	0.83659	D	0.355	0.71766	T	10	0.7836381	0.78062	D	0.034204	0.55518	D	0.434	0.73951	.	.	0.304108284078	0.30024	0.8412484373662918	0.84084	.	.	0.80820775032	0.83218	D	.	.	.	-0.165106	0.25977	T	-0.20064	0.54585	T	0.984633207321167	0.75878	D	0.941406	0.78138	D	0.26197255	0.49257	0.25887418	0.51626	0.26197255	0.49256	0.25887418	0.51625	-12.4	0.86745	D	0.7950933963943959	0.87291	0.890	0.82098	P	.;.	.;.	4.612287	0.73149	25.9	0.99828440159395559	0.91026	0.98019	0.78921	D	AEFDGBI	0.935189	0.92967	D	0.967891929472064	0.94667	12.94143	0.87291634822986	0.94281	12.640	0.999999999999903	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.970000	0.87602	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.739	0.91730	895	0.25842	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1659.33	36	chr17	78451519	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=764;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.565;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	78484959	78484959	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon48:c.T7558G:p.F2520V	.	402	1119	1	0	0	1	0.000446628	.	.	.	2228243	not_provided|DNAH17-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.638	0.0392311421552	0.0022	0.000798722	0.0030	0.0008	0.0006	0	0.0083	0.0043	0.0041	0.0003	0.0023221	359	154602	rs200203879	0.0028	0.0028	0.0029	0.0026	0.0031	0.0027	0.0027	0.0030	0.0030	0.0002	0.0009	0.0009	0	0.0074	0	0.0031	0.0020	0.0002	0.0023	0.0023	0.0020	0.0026	0.0032	0.0021	0.0020	0.0028	0.0027	0.0004	0	0.0018	0.0006	0	0.0073	0	0.0032	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999888	0.50402	D	.	.	.	0.76	0.49919	T	.	.	.	0.909	0.91047	0.299	0.87541	D	0.466	0.79400	T	7	0.02804926	0.00942	T	0.039231	0.58687	D	0.638	0.86181	.	.	0.50810274593	0.50449	0.7715269705847674	0.77102	.	.	0.78618401289	0.79862	T	.	.	.	-0.14603	0.28934	T	0.016942	0.71433	D	0.123565406680315	0.14775	T	0.99608	0.98641	D	0.25560817	0.48596	0.38981524	0.63792	0.22494607	0.45146	0.4279177	0.66522	-11.324	0.81404	D	0.6786684376274992	0.75476	0.806	0.77579	P	.;.	.;.	4.961691	0.82045	27.7	0.99303567908286727	0.58722	0.97082	0.72584	D	AEFDGBHCI	0.931600	0.92064	D	0.730235785471535	0.81615	7.563809	0.68934943689795	0.81570	7.557687	1.0	0.98316	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.96	4.96	0.65153	9.183000	0.94011	10.939000	0.84330	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.640	0.68319	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	997.33	36	chr17	78484959	.	A	C	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=741;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.393;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	18	0	1	0
chr17	78514887	78514887	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon26:c.G4000A:p.V1334M	.	428	1086	8	0	0	8	0.00366972	.	.	.	2808479	not_provided|DNAH17-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0035	0.00339457	0.0014	0.0073	0.0003	0.0015	0	0.0008	0.0033	0.0012	0.0013195	204	154602	rs143872440	0.0009	0.0009	0.0008	0.0009	0.0067	0.0008	0.0008	0.0060	0.0057	0.0067	0.0004	0.0004	0.0032	0	0.0055	0.0006	0.0013	0.0012	0.0025	0.0025	0.0027	0.0024	0.0070	0.0023	0.0022	0.0063	0.0061	0.0070	0	0.0009	0.0003	0.0019	0	0	0.0009	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997967	0.22421	N	.	.	.	0.1	0.61326	T	.	.	.	0.384	0.43029	-1.0398	0.17374	T	0.066	0.27225	T	7	0.012047321	0.00260	T	.	.	.	0.027	0.05988	.	.	0.159798565429	0.15598	0.11402247151895309	0.11330	.	.	0.422648996115	0.28201	T	.	.	.	-0.436946	0.01348	T	-0.396274	0.33817	T	0.0131404093913814	0.00232	T	0.650435	0.26116	T	0.016085599	0.00175	0.070243195	0.14899	0.016633002	0.00211	0.08776052	0.20418	-4.792	0.34498	T	0.3013515114219636	0.39871	0.103	0.18289	B	.;.	.;.	1.717992	0.21875	15.39	0.97095372148941017	0.32345	0.16628	0.19476	N	AEFGBI	0.110955	0.21984	N	-0.515097206054407	0.21592	1.146994	-0.482535949417321	0.22634	1.230398	9.26005572858497E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	2.27	0.27501	0.487000	0.22064	-4.781000	0.01989	-0.914000	0.02241	0.262000	0.24968	0.000000	0.08366	0.072000	0.16771	0.1495:0.5386:0.0:0.3119	4.58	0.11648	897	0.25382	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.007576	0.02632	2526.33	36	chr17	78514887	.	C	T	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=854;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.873;SOR=0.855	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1363	18	0	1	0
chr17	78567034	78567034	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon10:c.G1417A:p.D473N	.	432	1078	11	1	0	13	0.00599355	.	.	.	3206422	DNAH17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.134	.	0.0008	0.0135783	0.0103	0.0014	0.0005	0.0397	0.0086	0.0024	0.0070	0.0406	0.0086351	1335	154602	rs140052280	0.0046	0.0046	0.0036	0.0055	0.0427	0.0045	0.0044	0.0410	0.0403	0.0014	0.0003	0	0.0427	0.0113	0.0028	0.0007	0.0047	0.0375	0.0037	0.0037	0.0028	0.0047	0.0409	0.0035	0.0034	0.0362	0.0344	0.0011	0	0.0006	0	0.0308	0.0062	0	0.0012	0.0038	0.0409	0.688	0.04328	T	.	.	.	.	.	.	.	.	.	0.866865	0.07151	N	1.083630	0.893633	0.27836	N	0.805	0.20218	L	0.64	0.52867	T	-0.61	0.18042	N	0.297	0.33578	-1.0699	0.09436	T	0.043	0.18493	T	10	0.0044732094	0.00092	T	.	.	.	0.134	0.36365	.	.	0.0806252709748	0.07271	0.13456773948441741	0.13380	.	.	0.36636903882	0.20309	T	0.001953	0.01365	T	-0.618087	0.00113	T	-0.633455	0.10154	T	0.015807688875452	0.00369	T	0.173783	0.01661	T	0.085617736	0.19868	0.11400838	0.27517	0.07275373	0.16206	0.11400838	0.27517	-5.16	0.38533	T	.	.	0.088	0.11845	B	.;.	.;.	2.126576	0.27073	17.34	0.67101720989324876	0.08254	0.94463	0.61246	D	AEFDBI	0.647372	0.62257	D	-0.752712852089215	0.14559	0.7262894	-0.616372630507367	0.19073	1.021711	0.964394911626242	0.28757	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.92	3.95	0.44952	5.109000	0.64456	4.633000	0.44124	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.9157:0.0:0.0843	11.754	0.51130	887	0.27948	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006552	0.005051	0.002717	0.000000	0.000000	0.000000	0.009202	0.026515	0.02632	1475.33	41	chr17	78567034	.	C	T	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=760;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.226;SOR=0.564	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	78567150	78567150	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon10:c.C1301T:p.A434V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0123983639916	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765133483	4.132e-06	6.156e-06	6.842e-06	1.386e-06	0.0002	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	0	0	0.0002	3.612e-06	0	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.05106	T	.	.	.	.	.	.	.	.	.	0.997904	0.07946	U	1.001520	0.988325	0.40743	D	1.895	0.50365	L	0.65	0.52642	T	-1.2	0.30555	N	0.632	0.64563	-0.9994	0.30087	T	0.120	0.41950	T	10	0.39358824	0.55066	T	0.012398	0.30939	T	0.228	0.52768	.	.	0.104622674875	0.10061	0.3438574975557102	0.34299	.	.	0.648892760277	0.59829	T	0.005075	0.04506	T	0.0256792	0.55146	T	-0.20089	0.54562	T	0.201623441271936	0.20505	T	0.889211	0.62120	D	0.10280989	0.24296	0.24259435	0.49684	0.10280989	0.24296	0.24259435	0.49683	-4.402	0.29585	T	.	.	0.222	0.45261	B	.;.	.;.	2.860819	0.37796	20.6	0.48526270201016353	0.04057	0.99531	0.97133	D	AEFDBI	0.863062	0.78151	D	-0.231769740798738	0.31837	1.789243	-0.19208357606636	0.31826	1.80481	0.999990148212785	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.62	4.62	0.56946	6.766000	0.74765	6.305000	0.55420	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	15.626	0.76609	887	0.27948	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1783.33	41	chr17	78567150	.	G	A	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.067;DP=789;ExcessHet=0;FS=2.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.552;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr17	78572790	78572790	A	C	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon3:c.T450G:p.F150L	.	416	1097	9	0	0	9	0.00408534	.	.	.	3220438	DNAH17-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.148	.	0.0005	0.0147764	0.0102	0.0003	0.0005	0.0323	0.0086	0.0023	0.0082	0.0441	0.0084734	1310	154602	rs142471902	0.0043	0.0043	0.0033	0.0053	0.0389	0.0042	0.0042	0.0378	0.0373	0.0003	0.0002	0	0.0319	0.0113	0.0029	0.0007	0.0045	0.0389	0.0033	0.0033	0.0023	0.0044	0.0419	0.0031	0.0030	0.0371	0.0353	0.0002	0	0.0005	0	0.0264	0.0060	0	0.0012	0.0028	0.0419	0.404	0.10345	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.971119	0.25670	N	1.5	0.37844	L	2.02	0.21473	T	-3.17	0.64363	D	0.412	0.45237	-0.9895	0.32727	T	0.011	0.04227	T	7	0.0059226453	0.00133	T	.	.	.	0.148	0.39182	0.515	0.61459	0.0297737177859	0.01360	0.36731788695154	0.36645	.	.	0.640616357327	0.58651	T	0.01284	0.11210	T	-0.521488	0.00431	T	-0.493289	0.23046	T	0.0305341964276499	0.02072	T	0.461354	0.13375	T	0.07422574	0.16643	0.2112942	0.45551	0.07857167	0.17899	0.2112942	0.45550	-3.439	0.15587	T	.	.	0.816	0.78022	P	.;.	.;.	-1.235922	0.00496	0.011	0.64140750593406459	0.07412	0.14547	0.18460	N	AEFDGBHCI	0.155630	0.28086	N	-0.878843582670899	0.11347	0.5471004	-0.987057987809347	0.10075	0.5051928	2.41229368279013E-4	0.06141	0.517182	0.21443	0	0.610034	0.51514	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.52	-3.42	0.04521	-1.199000	0.03141	-2.297000	0.03934	-0.041000	0.17446	0.006000	0.17386	0.000000	0.08366	0.020000	0.11549	0.4875:0.0:0.5125:0.0	12.925	0.57652	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.026515	0.02632	1589.33	33	chr17	78572790	.	A	C	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.21;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1267	18	0	1	0
chr17	78827329	78827329	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon5:c.G110A:p.R37H,USP36:NM_001385178:exon5:c.G110A:p.R37H,USP36:NM_001321291:exon6:c.G605A:p.R202H,USP36:NM_001385169:exon6:c.G605A:p.R202H,USP36:NM_001385170:exon6:c.G605A:p.R202H,USP36:NM_001385171:exon6:c.G605A:p.R202H,USP36:NM_001385173:exon6:c.G605A:p.R202H,USP36:NM_001385174:exon6:c.G605A:p.R202H,USP36:NM_001385175:exon6:c.G605A:p.R202H,USP36:NM_001385176:exon6:c.G605A:p.R202H,USP36:NM_001385172:exon7:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	2431450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	0.0384552531843	0.0002	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0	9.7e-05	15	154602	rs370089975	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0	3.751e-05	0	0.0002	0.0001	5.805e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.242e-05	9.572e-05	7.011e-05	0.0002	0	0.0003	0	0	9.423e-05	0	0.0002	0	0	0.106	0.29688	T	0.0	0.92824	D	0.976	0.58310	D	0.769	0.56777	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	1.5	0.31205	T	-3.99	0.73893	D	0.821	0.82964	-0.8077	0.54689	T	0.175	0.51880	T	10	0.33126932	0.50352	T	0.038455	0.58233	D	0.239	0.54358	.	.	0.564392371781	0.56103	0.5670028304708815	0.56628	0.408498947633	0.41690	0.661425232887	0.61614	T	0.04896	0.28168	T	-0.212891	0.18974	T	-0.29527	0.45220	T	0.451641082763672	0.30857	T	0.894511	0.81930	D	0.3331276	0.55725	0.30131862	0.56164	0.3331276	0.55725	0.30131862	0.56164	-10.047	0.74193	D	.	.	0.136	0.39408	B	.;.;.;.;.	.;.;.;.;.	4.418878	0.68430	25.2	0.99865325534130922	0.94366	0.97464	0.74918	D	AEFDBHCI	0.920483	0.89253	D	0.599604750485453	0.73150	5.919359	0.64188101313184	0.78006	6.790414	0.999999999999996	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.794000	0.84430	3.201000	0.36751	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.992	0.89094	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	305.33	34	chr17	78827329	.	C	T	305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.628;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr17	79735415	79735415	G	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.G772A:p.D258N	.	436	1084	2	0	0	2	0.000921659	.	.	.	3245304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.025302201462	.	.	1.652e-05	0	0	0	0	3.008e-05	0	0	1.29e-05	2	154602	rs782158669	3.078e-05	3.078e-05	2.314e-05	3.85e-05	0.0026	2.347e-05	2.095e-05	0.0016	0.0013	0	0	0	0	0	0.0026	2.248e-05	8.279e-05	0	3.944e-05	3.94e-05	3.854e-05	4.038e-05	5.881e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.881e-05	0.0005	0	0.116	0.28395	T	0.381	0.15939	T	.	.	.	.	.	.	0.068808	0.21647	N	0.467813	0.937198	0.37182	D	.	.	.	-0.93	0.75215	T	-2.14	0.48523	N	0.088	0.06587	-0.8799	0.49770	T	0.168	0.50810	T	10	0.15790501	0.29705	T	0.025302	0.48274	D	0.145	0.38592	.	.	0.66790570697	0.66510	0.4349795512532151	0.43414	0.260873036552	0.28649	0.292006403208	0.09214	T	.	.	.	-0.257755	0.13163	T	-0.500367	0.22309	T	0.088515393435955	0.11039	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	1.477086	0.19022	14.05	0.99209970744975706	0.55563	0.58423	0.30638	D	AEFDGBI	0.600047	0.59283	D	-0.550308749146913	0.20474	1.07956	-0.43569782115485	0.23957	1.309291	0.997332448351367	0.35509	0.497415	0.19182	0	0.573078	0.20572	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	4.42	0.52775	1.213000	0.32011	3.219000	0.36843	0.676000	0.76740	0.389000	0.26079	1.000000	0.68203	0.335000	0.25317	0.2043:0.0:0.7957:0.0	10.523	0.44117	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4045.33	34	chr17	79735415	.	G	A	4045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=1026;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=1.08;SOR=0.798	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	18	0	1	0
chr17	79737219	79737219	A	G	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon4:c.A1205G:p.N402S	.	423	1050	46	3	0	52	0.0241636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0021	0.00439297	0.0049	0.0004	0.0068	0.0001	0.0011	0.0037	0.0088	0.0140	0.003978	615	154602	rs148504454	0.0030	0.0030	0.0025	0.0035	0.0345	0.0029	0.0029	0.0306	0.0291	0.0013	0.0033	0.0008	5.038e-05	0.0016	0.0345	0.0022	0.0049	0.0133	0.0024	0.0024	0.0023	0.0025	0.0139	0.0022	0.0021	0.0112	0.0102	0.0006	0.0011	0.0036	0.0017	0	0.0009	0.0204	0.0027	0.0047	0.0139	0.042	0.41637	D	0.06	0.55759	T	.	.	.	.	.	.	0.000013	0.62929	D	0.107917	0.97117	0.38851	D	.	.	.	-1.27	0.81640	T	-3.78	0.71519	D	0.311	0.35088	-0.4144	0.71570	T	0.316	0.68566	T	10	0.0114685595	0.00250	T	.	.	.	0.363	0.68319	.	.	0.678820268726	0.67608	0.8019497746686944	0.80148	0.271583772953	0.29678	0.260539412498	0.04955	T	0.485718	0.81251	T	-0.45022	0.01126	T	-0.408455	0.32402	T	0.0712710769880274	0.08828	T	0.830517	0.49623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.39425	B	.;.	.;.	2.445970	0.31491	18.76	0.99673268891014699	0.78717	0.90093	0.51004	D	AEFBCI	0.886620	0.81816	D	0.0800277301162812	0.45531	2.808124	-0.0453504094764763	0.37692	2.210384	0.767705452842803	0.23617	0.516011	0.20929	0	0.610034	0.51514	0	0.586423	0.30347	0	0.542086	0.14980	0	.	.	3.07	1.97	0.25278	5.895000	0.69554	6.686000	0.56326	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.8997:0.0:0.1003:0.0	8.173	0.30425	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023690	0.005051	0.029891	0.044118	0.000000	0.034483	0.009146	0.018939	0.02632	1257.33	33	chr17	79737219	.	A	G	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=762;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.402;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr17	79784633	79784633	T	C	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.T1190C:p.I397T	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.002559162264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782090812	3.424e-06	4.104e-06	4.088e-06	2.753e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.471e-05	0	0	1.0	0.00964	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	-1.905	0.00237	N	.	.	.	0.56	0.02680	N	0.009	0.00081	-0.9934	0.31722	T	0.034	0.14596	T	9	0.028960407	0.01024	T	0.002559	0.05150	T	0.059	0.16972	0.119	0.02647	0.0675242888579	0.06100	0.06858714667278173	0.06796	0.0441823419456	0.04759	0.315997481346	0.12815	T	0.028917	0.20835	T	-0.363708	0.03924	T	-0.760218	0.03104	T	0.0319956947165402	0.02305	T	0.260474	0.04175	T	0.050462827	0.09121	0.06114123	0.11758	0.050462827	0.09121	0.06114123	0.11758	-0.82	0.00821	T	0.06418890275321325	0.02026	0.044	0.00035	B	.	.	-0.518985	0.01808	0.141	0.26054480016887993	0.01230	0.00773	0.03184	N	AEFBCI	0.021307	0.00934	N	-1.63257367864832	0.01110	0.04821918	-1.57026568426513	0.01840	0.08383023	0.99366334542703	0.33306	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.17	-0.453	0.11592	0.027000	0.13512	0.508000	0.19055	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4219:0.3527:0.2254	6.793	0.22898	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	36	chr17	79784633	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=784;ExcessHet=0;FS=4.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.529;SOR=0.348	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	18	0	1	0
chr17	79784647	79784647	G	A	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G1204A:p.A402T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00646425576035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.753e-06	4.476e-05	5.5e-07	1.5e-07	7.42e-06	2.78e-06	0	4.476e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.466	0.12386	T	0.002	0.09854	B	0.002	0.06944	B	0.000002	0.00162	N	6.274620	1	0.08975	N	1.085	0.27262	L	.	.	.	-0.04	0.07590	N	0.021	0.00339	-1.0585	0.12134	T	0.041	0.17530	T	9	0.04281363	0.03067	T	0.006464	0.17014	T	0.048	0.13305	0.121	0.02793	0.134007934775	0.12933	0.10495512667107028	0.10425	0.0374402184528	0.03967	0.265530645847	0.05567	T	0.04453	0.26845	T	-0.397688	0.02397	T	-0.726163	0.04503	T	0.0596213873997642	0.07109	T	0.467953	0.13790	T	0.037874967	0.04938	0.043632746	0.05473	0.037874967	0.04938	0.043632746	0.05473	-3.756	0.20149	T	0.10698885192152713	0.08659	0.060	0.00964	B	.	.	0.012208	0.04366	1.123	0.77422605091797969	0.11870	0.05124	0.10930	N	AEFBHCI	0.046920	0.07844	N	-1.08608394471586	0.06899	0.3189194	-1.0775224256041	0.08144	0.3991338	0.993572697400979	0.33269	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.17	0.059	0.13646	-0.151000	0.10160	-0.264000	0.10402	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2795:0.1252:0.4414:0.1538	1.401	0.02135	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1055.33	36	chr17	79784647	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=822;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.526;SOR=0.917	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1162	18	0	1	0
chr17	79952669	79952669	C	T	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon4:c.G929A:p.R310H	.	419	1097	6	0	0	6	0.00272727	.	.	.	2368488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0177386175409	.	.	5.259e-05	0	0.0002	0	0	1.576e-05	0	0.0002	3.88e-05	6	154602	rs757938163	2.7e-05	3.283e-05	2.056e-05	3.355e-05	0.0002	2.021e-05	1.775e-05	0.0001	8.728e-05	0	6.811e-05	0	0	0	0	1.274e-05	0.0001	0.0002	5.254e-05	5.253e-05	5.137e-05	5.377e-05	0.0002	2.556e-05	1.829e-05	5.282e-05	2.834e-05	2.411e-05	0	0.0002	0	0	0	0	2.939e-05	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	2.45	0.15028	T	-4.17	0.75456	D	0.879	0.87699	-0.9369	0.43103	T	0.131	0.44248	T	10	0.6146564	0.67637	D	0.017739	0.39556	T	0.500	0.78350	.	.	0.615969100344	0.61286	0.5711275582554005	0.57040	1.74234144677	0.90877	0.838685154915	0.87894	D	0.278499	0.65115	T	-0.0899381	0.38086	T	-0.0875313	0.64348	T	0.91136509180069	0.56691	D	0.979802	0.93081	D	0.7139252	0.78824	0.5390874	0.73363	0.7139252	0.78825	0.5390874	0.73364	-11.487	0.82262	D	.	.	0.508	0.64956	A	.;.	.;.	5.658805	0.92858	33	0.99956609889142545	0.99981	0.97844	0.77553	D	AEFDBCI	0.937373	0.93505	D	0.835157527215456	0.88247	9.507384	0.803946630522686	0.90065	10.24151	0.999999999999998	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.3	5.3	0.74745	7.550000	0.81121	5.729000	0.49511	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.559	0.91049	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2176.33	169	chr17	79952669	.	C	T	2176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=803;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.581;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1209	18	0	1	0
chr17	80036685	80036685	C	G	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon1:c.C23G:p.A8G,CCDC40:NM_001330508:exon1:c.C23G:p.A8G,CCDC40:NM_017950:exon1:c.C23G:p.A8G	Ciliary dyskinesia, primary, 15	4	1515	3	0	0	3	0.00098912	.	.	.	997996	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0332418454089	.	.	6.866e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs751298635	1.224e-05	1.573e-05	7.519e-06	1.712e-05	0.0012	7.24e-06	5.86e-06	0.0005	0.0004	0	0	0	0	0	0.0012	7.693e-06	3.705e-05	0	3.952e-05	3.945e-05	6.438e-05	1.348e-05	6.553e-05	1.719e-05	1.132e-05	4.88e-06	1.83e-06	0	0	6.553e-05	0	0	0	0.0064	2.943e-05	0.0005	0	0.174	0.22486	T	0.199	0.92824	T	0.829	0.65571	P	0.103	0.52725	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.25	0.59983	T	-0.46	0.15178	N	0.157	0.26717	-0.9982	0.30423	T	0.138	0.45602	T	9	0.090200245	0.15693	T	0.033242	0.54840	D	0.068	0.19811	.	.	0.227260227426	0.22338	0.03294436312036548	0.03242	0.192883983808	0.21620	0.535610854626	0.43826	T	0.022363	0.17252	T	-0.162237	0.26417	T	-0.470819	0.25427	T	0.0968179181218147	0.12003	T	0.551245	0.19007	T	0.05516011	0.10683	0.093609996	0.22118	0.05516011	0.10683	0.093609996	0.22117	-3.457	0.17886	T	.	.	0.134	0.36053	B	.;.;.;.	.;.;.;.	3.011947	0.40284	21.1	0.72548467302871888	0.10012	0.02021	0.06069	N	ALL	0.057102	0.10609	N	-0.743259323350577	0.14818	0.741351	-0.943274313347563	0.11079	0.5622527	0.99999999999854	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	1.6	0.56	0.16465	0.024000	0.13447	0.406000	0.18056	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3522:0.6478:0.0:0.0	5.006	0.13630	912	0.21483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018837	0.016854	0.030899	0.011029	0.000000	0.054545	0.006623	0.030769	0.02632	839.33	35	chr17	80036685	.	C	G	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=684;ExcessHet=0;FS=4.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.412;SOR=0.414	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1081	18	0	1	0
chr17	80065569	80065569	C	T	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon10:c.C1525T:p.R509C,CCDC40:NM_001330508:exon10:c.C1525T:p.R509C,CCDC40:NM_017950:exon10:c.C1525T:p.R509C	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	846368	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.524	0.568224702929	.	.	3.388e-05	0	0	0	0	4.633e-05	0	6.076e-05	2.59e-05	4	154602	rs749901313	1.095e-05	1.094e-05	1.362e-05	8.257e-06	1.169e-05	6.48e-06	5.25e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.313e-05	1.16e-05	1.316e-05	1.314e-05	2.571e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.004	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999992	0.81001	D	2.965	0.85198	M	0.02	0.85003	T	-7.4	0.95394	D	0.856	0.86511	0.696	0.93121	D	0.766	0.92040	D	9	0.93200195	0.92536	D	0.568225	0.96085	D	0.524	0.79825	0.651	0.78858	0.838348293362	0.83680	0.6232625051390058	0.62259	0.841245219512	0.68085	0.546136200428	0.45313	T	0.598727	0.87108	D	0.13905	0.68236	D	0.142255	0.79690	D	0.952154397964478	0.63725	D	0.929107	0.75346	D	0.37836188	0.59198	0.38410223	0.63359	0.37836188	0.59198	0.38410223	0.63358	-9.956	0.76242	D	0.7818054722173851	0.86158	0.308	0.58132	B	.;.;.	.;.;.	4.460889	0.69433	25.4	0.99871927311625852	0.94989	0.73459	0.35933	D	AEFDBHCI	0.393424	0.47107	N	0.458416598512243	0.64682	4.72833	0.294957561456362	0.55243	3.687663	0.999998674307699	0.74766	0.554377	0.28877	0	0.657636	0.61667	0	0.615044	0.40820	1	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	4.005000	0.56787	4.604000	0.44009	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.1497:0.8503:0.0:0.0	14.256	0.65598	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	824.33	42	chr17	80065569	.	C	T	824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=787;ExcessHet=0;FS=7.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.571;SOR=1.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1298	18	0	1	0
chr17	80084982	80084982	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon13:c.G2229C:p.E743D,CCDC40:NM_017950:exon13:c.G2229C:p.E743D	Ciliary dyskinesia, primary, 15	2	1508	12	0	0	12	0.00396301	.	.	.	684722	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0127828540071	0.0005	.	0.0002	0	8.948e-05	0	0	0.0003	0	0.0003	0.0001746	27	154602	rs377219039	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0004	0	7.555e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0	0	0.0005	0.0006	0	0	0.0034	0.0003	0	0.0002	0.258	0.16738	T	0.332	0.39340	T	0.091	0.25247	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	1.8	0.47472	L	0.84	0.47477	T	-1.13	0.29114	N	0.179	0.19995	-0.9847	0.33903	T	0.125	0.42903	T	9	0.04432112	0.03376	T	0.012783	0.31649	T	0.066	0.19193	0.112	0.02175	0.0846915920261	0.08053	0.14519740819216256	0.14442	0.166350972755	0.18771	0.50788640976	0.39927	T	0.068592	0.33496	T	-0.492061	0.00633	T	-0.63407	0.10107	T	0.0316234454512596	0.02246	T	0.624238	0.24084	T	0.12479752	0.29272	0.14009024	0.33404	0.12629017	0.29583	0.11753162	0.28372	-4.621	0.32435	T	0.5833244653021936	0.65014	0.136	0.29697	B	.;.	.;.	2.246626	0.28697	17.88	0.98731452613120307	0.45363	0.35098	0.25222	N	AEFDGBI	0.123745	0.23950	N	-0.54550014646685	0.20625	1.088645	-0.539586674290993	0.21083	1.138833	3.8526206416725E-4	0.06781	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.06	0.976	0.18846	0.417000	0.20934	2.183000	0.31145	0.596000	0.33519	0.790000	0.29595	0.998000	0.33993	0.849000	0.40138	0.3431:0.0:0.6569:0.0	10.707	0.45160	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1584.33	142	chr17	80084982	.	G	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=787;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.045;SOR=0.8	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1170	18	0	1	0
chr17	80090185	80090216	AACACGGGACGCACGCAGGCACGTGCACGAAG	-	exonic	CCDC40	.	frameshift deletion	CCDC40:NM_001243342:exon18:c.2879_2910del:p.H964Rfs*119	Ciliary dyskinesia, primary, 15	0	1495	18	7	2	34	0.010589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261823511	0.0037	0.0062	0.0035	0.0039	0.0112	0.0036	0.0035	0.0105	0.0103	0.0097	0.0042	0.0045	0.0070	0.0038	0.0035	0.0026	0.0045	0.0112	0.0014	0.0018	0.0015	0.0012	0.0033	0.0012	0.0012	0.0029	0.0027	0.0033	0	0.0011	0.0003	0.0004	0.0012	0	0.0004	0.0034	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	933.29	34	chr17	80090184	.	CAACACGGGACGCACGCAGGCACGTGCACGAAG	C	933.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.153;DP=1585;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.11;MQRankSum=0.862;QD=6.48;ReadPosRankSum=-4.287;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1258:.	18	0	1	0
chr17	80090197	80090197	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	14354.3	129	chr17	80090197	.	A	*	14354.3	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.674;DP=1989;ExcessHet=1.1637;FS=7.165;InbreedingCoeff=-0.1186;MLEAC=1;MLEAF=0.031;MQ=56.03;MQRankSum=-1.664;QD=15.43;ReadPosRankSum=4.04;SOR=0.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1258:.	15	0	1	3
chr17	80090199	80090199	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	1	1468	9	3	41	56	0.00508302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5031.96	241	chr17	80090199	.	G	*	5031.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=1951;ExcessHet=0.0101;FS=1.163;InbreedingCoeff=0.4412;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=4.39;QD=11.38;ReadPosRankSum=1.25;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:103:99:.:.:3007,3010,3017:.	18	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	63947.4	121	chr17	80090216	.	G	*	63947.4	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.47;DP=3300;ExcessHet=1.4758;FS=1.376;InbreedingCoeff=-0.0747;MLEAC=1;MLEAF=0.031;MQ=55.63;MQRankSum=-4.15;QD=25.59;ReadPosRankSum=-1.834;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:141,0:141:0:.:.:0,0,1650:.	15	0	1	3
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	34630.8	180	chr17	80090265	.	G	*	34630.8	.	AC=1;AF=0.045;AN=22;BaseQRankSum=4.58;DP=2417;ExcessHet=0.9394;FS=3.116;InbreedingCoeff=0.1;MLEAC=1;MLEAF=0.045;MQ=52.59;MQRankSum=-5.242;QD=25.84;ReadPosRankSum=0.713;SOR=0.459	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:116,0:116:0:.:.:0,0,1290:.	10	0	1	8
chr17	80095398	80095398	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon18:c.G2968A:p.D990N	Ciliary dyskinesia, primary, 15	0	1515	7	0	0	7	0.00230491	.	.	.	272779	Primary_ciliary_dyskinesia_15|not_provided|CCDC40-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.032371044787	0.0002	0.000798722	0.0016	0	0	0.0031	0.0035	0.0018	0.0034	0.0012	0.0013454	208	154602	rs200958035	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0006	0.0039	0.0036	0	4.472e-05	0	0.0044	0.0033	0.0005	0.0004	0.0011	0.0011	0.0007	0.0007	0.0005	0.0009	0.0039	0.0006	0.0006	0.0026	0.0021	2.404e-05	0	0.0002	0	0.0039	0.0028	0	0.0007	0.0009	0.0017	0.12	0.27904	T	0.129	0.34837	T	0.088	0.25022	B	0.011	0.15521	B	.	.	.	.	0.993358	0.23727	N	0.795	0.19620	N	0.82	0.48142	T	-1.96	0.45404	N	0.162	0.17002	-1.0345	0.19014	T	0.101	0.37341	T	9	0.011015624	0.00243	T	0.032371	0.54212	D	0.087	0.25287	.	.	0.272639205421	0.26888	0.14218203363090426	0.14141	0.172173562126	0.19387	0.302955031395	0.10843	T	0.14964	0.48874	T	-0.643992	0.00079	T	-0.701505	0.05743	T	0.024312914011324	0.01184	T	0.593441	0.21910	T	0.0478802	0.08258	0.04951018	0.07582	0.039844368	0.05576	0.06108012	0.11737	-7.434	0.57144	T	0.3481705408692286	0.44556	0.103	0.18497	B	.	.	1.858462	0.23606	16.08	0.98623313527861522	0.43812	0.70216	0.34499	D	AEFDBI	0.077753	0.15672	N	-0.32280877953576	0.28284	1.558766	-0.234703838419107	0.30303	1.704961	0.00454933878732479	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.38	3.27	0.36580	1.795000	0.38418	4.092000	0.41811	-0.123000	0.13640	0.976000	0.34826	0.998000	0.33993	0.001000	0.02609	0.0711:0.1259:0.803:0.0	11.674	0.50681	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	36	chr17	80095398	.	G	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=799;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.789;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	18	0	1	0
chr17	80181532	80181532	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon2:c.C94T:p.R32C,CARD14:NM_024110:exon2:c.C94T:p.R32C,CARD14:NM_001366385:exon5:c.C94T:p.R32C	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	646917	Pityriasis_rubra_pilaris|Psoriasis_2	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0189460883746	.	.	.	.	.	.	.	.	.	.	.	.	.	rs895639722	2.652e-05	2.599e-05	2.491e-05	2.817e-05	0.0002	1.972e-05	1.726e-05	0.0001	9.925e-05	0	0	0	0	0	0	1.912e-05	1.687e-05	0.0002	6.571e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.77913	D	0.828	0.59497	P	0.052824	0.22861	N	0.441828	0.803074	0.34537	D	2.475	0.71894	M	-1.65	0.82625	D	-6.45	0.91395	D	0.107	0.10056	-0.9401	0.42600	T	0.124	0.42799	T	10	0.3263861	0.49936	T	0.018946	0.41175	T	0.166	0.42578	.	.	0.964000070571	0.96361	0.8672964729929495	0.86694	0.213140638837	0.23823	0.377863109112	0.21953	T	0.153835	0.49485	T	-0.0976007	0.36822	T	-0.18759	0.55816	T	0.395481049603379	0.28772	T	0.730127	0.34815	T	0.42740354	0.62582	0.35765487	0.61255	0.42740354	0.62582	0.35765487	0.61255	-7.522	0.58262	D	0.23047126753171346	0.31183	0.104	0.22464	B	.;.;.;.;.;.	.;.;.;.;.;.	1.635100	0.20874	14.95	0.9981978020164699	0.90238	0.10258	0.15814	N	AEFDBI	0.137103	0.25798	N	-0.0500148390464133	0.39602	2.33802	-0.238404957083861	0.30173	1.697	0.00136184533328445	0.08479	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.26	3.27	0.36580	-0.314000	0.08132	0.014000	0.13486	0.599000	0.40250	0.000000	0.06391	0.257000	0.23957	0.015000	0.10482	0.1716:0.8284:0.0:0.0	12.268	0.54006	884	0.28482	.;CARD domain|CARD domain;CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	47	chr17	80181532	.	C	T	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.53;DP=790;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.32;SOR=0.378	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1167	18	0	1	0
chr17	80217061	80217061	G	A	exonic	SGSH	.	nonsynonymous SNV	SGSH:NM_000199:exon2:c.C220T:p.R74C,SGSH:NM_001352921:exon2:c.C220T:p.R74C,SGSH:NM_001352922:exon2:c.C220T:p.R74C	Mucopolysaccharidosis type IIIA (Sanfilippo A), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	20147	not_provided|Abnormal_circulating_carbohydrate_concentration|Mucopolysaccharidosis|Mucopolysaccharidosis,_MPS-III-A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004366,Human_Phenotype_Ontology:HP:0011013,MedGen:C5139058|MONDO:MONDO:0019249,MeSH:D009083,MedGen:C0026703,OMIM:PS607014,Orphanet:79213|MONDO:MONDO:0009655,MedGen:C0086647,OMIM:252900,Orphanet:581,Orphanet:79269	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.947	0.6437047581	0.0003	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs104894636	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	3.003e-05	0	0	0	0.0002	0	0.0003	6.718e-05	8.415e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	4.825e-05	0	0	0	0	0.0002	0	0.0004	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	4.79	0.99631	H	-4.78	0.98140	D	-7.59	0.95305	D	0.978	0.98840	1.068	0.98536	D	0.977	0.99300	D	9	0.96618414	0.96106	D	0.643705	0.96969	D	0.947	0.98955	.	.	0.990263622423	0.99015	0.9860345047590354	0.98596	0.90052111652	0.70617	0.806836009026	0.83007	D	0.950253	0.99278	D	0.27476	0.80862	D	0.571457	0.96244	D	0.992078602313995	0.82470	D	0.89891	0.72990	D	0.98443407	0.99429	0.8310493	0.90253	0.9682114	0.98092	0.845689	0.91216	-12.846	0.88718	D	0.6998229612918919	0.77863	0.956	0.87613	P	.;.	.;.	6.132997	0.94635	34	0.99924078016274254	0.98980	0.94958	0.62924	D	AEFDBHCI	0.811189	0.73424	D	0.894836035049168	0.91505	10.91736	0.72466921964677	0.84252	8.240538	0.999837465429713	0.43792	0.651	0.46895	0	0.614415	0.52539	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.74	3.74	0.42108	5.874000	0.69399	8.357000	0.77023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.814:0.186	11.034	0.47010	830	0.39242	Sulfatase, N-terminal|Sulfatase, conserved site;Sulfatase, N-terminal|Sulfatase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	983.33	38	chr17	80217061	.	G	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=742;ExcessHet=0;FS=7.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.088;SOR=1.477	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	18	0	1	0
chr17	80319469	80319469	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_020954:exon17:c.G3181A:p.A1061T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000944074717015	7.7e-05	.	4.964e-05	9.735e-05	0.0003	0	0	3.011e-05	0	0	3.88e-05	6	154602	rs369944980	1.437e-05	1.436e-05	1.361e-05	1.513e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.675e-05	0.0002	8.944e-05	3.826e-05	0	0	0	4.496e-06	3.312e-05	1.159e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	0.0001	1.26e-05	7.98e-06	4.736e-05	3.052e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.445	0.13140	T	.	.	.	.	.	.	0.568110	0.11266	N	0.732493	1	0.08975	N	.	.	.	.	.	.	0.63	0.02404	N	0.038	0.01203	-1.0057	0.28247	T	0.017	0.07092	T	8	0.0455077	0.03629	T	9.44E-4	0.00934	T	0.033	0.08068	.	.	0.130388298395	0.12655	.	.	.	.	.	.	.	.	.	.	-0.491149	0.00640	T	-0.746306	0.03631	T	0.166886493563652	0.18365	T	0.30457	0.05801	T	.	.	.	.	.	.	.	.	-3.312	0.13893	T	.	.	0.077	0.06525	B	.	.	-0.538729	0.01747	0.131	0.9325578365417253	0.22948	0.00890	0.03501	N	AEFDGBI	0.017430	0.00456	N	-1.56957863204248	0.01423	0.0620793	-1.64538744072273	0.01400	0.06326806	0.930406714216701	0.27007	0.562547	0.31514	0	0.577304	0.33150	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.07	-5.51	0.02366	-0.645000	0.05506	-0.885000	0.07050	-0.760000	0.03515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2138:0.2537:0.2728:0.2597	0.399	0.00393	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1060.33	40	chr17	80319469	.	G	A	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.499;DP=737;ExcessHet=0;FS=6.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=2.06;SOR=1.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr17	80337683	80337683	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon24:c.A4625G:p.Q1542R	.	0	1518	4	0	0	4	0.00131579	.	.	.	756232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00959435454053	.	.	0.0009	0	0.0066	0	0	0.0001	0.0060	0.0015	0.0001035	16	154602	rs781412586	0.0001	9.577e-05	5.132e-05	0.0002	0.0016	8.699e-05	8.215e-05	0.0014	0.0013	0	2.801e-05	0	0	0	0.0002	5.561e-06	0.0001	0.0016	2.628e-05	2.626e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.33585	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.93	0.22881	T	-1.33	0.33197	N	0.049	0.02088	-1.0081	0.27510	T	0.054	0.22693	T	6	0.00625214	0.00141	T	0.009594	0.25085	T	0.059	0.16972	.	.	0.319402600006	0.31557	.	.	0.352426095465	0.37077	0.270537734032	0.06211	T	0.024836	0.18689	T	-0.555682	0.00269	T	-0.606353	0.12284	T	0.0147499311876277	0.00308	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05756	B	.;.	.;.	-0.205944	0.03059	0.475	0.24925806892756242	0.01125	0.02640	0.07239	N	AEFBI	0.027673	0.02302	N	-0.939799336059804	0.09923	0.4718391	-1.06684509049179	0.08360	0.4106858	7.18112796508394E-5	0.04552	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.66	-1.18	0.09122	0.015000	0.13250	0.482000	0.18815	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.4542:0.127:0.4187:0.0	6.049	0.19003	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	3226.83	55	chr17	80337683	.	A	G	3226.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.163;DP=978;ExcessHet=0.119;FS=2.933;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.175;SOR=0.895	GT:AD:DP:GQ:PL	0/1:68,78:146:99:1851,0,1843	17	0	2	0
chr17	80344886	80344886	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.A6551G:p.Q2184R	.	0	1498	23	1	0	25	0.00827541	.	.	.	715797	not_provided|RNF213-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00360495360684	0.0022	0.00159744	0.0024	0.0004	0.0018	0	0.0002	0.0031	0.0066	0.0028	0.0024579	380	154602	rs138595111	0.0038	0.0038	0.0037	0.0038	0.0099	0.0037	0.0036	0.0078	0.0071	0.0007	0.0017	0.0030	0	0.0006	0.0099	0.0042	0.0046	0.0029	0.0025	0.0025	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0033	0.0032	0	0.0004	0.0170	0.0040	0.0033	0.0023	0.832	0.02869	T	0.895	0.03099	T	.	.	.	.	.	.	0.613810	0.10841	N	0.817583	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.44	0.35399	N	0.043	0.01577	-0.9635	0.38507	T	0.020	0.08546	T	10	0.017392218	0.00371	T	0.003605	0.08247	T	0.030	0.07022	.	.	0.117506650769	0.11410	.	.	0.351483973545	0.36988	0.241480603814	0.02925	T	0.02384	0.18124	T	-0.666409	0.00058	T	-0.728522	0.04395	T	0.00173518910473408	0.00018	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	-0.353405	0.02393	0.265	0.4294536971338907	0.03200	0.09017	0.14855	N	AEFDBI	0.052287	0.09317	N	-1.21672145797293	0.04757	0.2153734	-1.20906142747402	0.05764	0.2755305	5.79141037353422E-4	0.07363	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	-0.534	0.11289	-0.528000	0.06280	-1.396000	0.05538	-0.042000	0.17409	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3959:0.1262:0.3553:0.1226	2.551	0.04459	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.000000	0.009146	0.000000	0.07895	4494.79	104	chr17	80344886	.	A	G	4494.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.499;DP=1092;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.131;SOR=0.68	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1704,0,1736	16	0	3	0
chr17	80346419	80346419	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C8084T:p.A2695V	.	0	1500	22	0	0	22	0.00727995	.	.	.	2818055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.325	0.018439059751	0.0004	0.000199681	0.0006	0	0.0003	0	0	0.0009	0.0022	0.0002	0.0005369	83	154602	rs202096577	0.0004	0.0004	0.0004	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	2.987e-05	0.0006	0.0018	0	0	0.0017	0.0004	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0.0013	0.0004	0.0003	0.0009	0.0007	9.635e-05	0	0.0013	0.0020	0	0	0.0034	0.0005	0.0005	0.0002	0.009	0.57480	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999915	0.51042	D	.	.	.	1.87	0.24085	T	-3.46	0.67705	D	0.617	0.63289	-1.0265	0.21593	T	0.106	0.38636	T	10	0.080498874	0.13072	T	0.018439	0.40505	T	0.325	0.64725	.	.	0.405012372841	0.40113	.	.	1.07567632848	0.76952	0.466452360153	0.34194	T	0.103252	0.41173	T	-0.0278958	0.47723	T	0.107892	0.77432	D	0.187317276909537	0.19685	T	0.89841	0.64469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.49018	B	.;.	.;.	3.495832	0.48888	22.7	0.99164711999056254	0.54212	0.99294	0.94081	D	AEFGBI	0.874600	0.79756	D	0.368594165393782	0.59728	4.154666	0.449080731419812	0.64656	4.726046	0.999999998475146	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.797000	0.84471	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	19.110	0.93298	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1890.33	38	chr17	80346419	.	C	T	1890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=864;ExcessHet=0;FS=4.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.658;SOR=0.687	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr17	80349770	80349770	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon30:c.A9952G:p.I3318V	.	1	1501	19	1	0	21	0.00694674	0	0	.	727537	RNF213-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	0.010116861468	0.0022	0.00179712	0.0026	0.0008	0.0011	0	0.0009	0.0038	0.0011	0.0019	0.0025808	399	154602	rs147785564	0.0030	0.0030	0.0030	0.0030	0.0092	0.0029	0.0029	0.0072	0.0065	0.0004	0.0014	0.0005	0	0.0010	0.0092	0.0035	0.0023	0.0017	0.0020	0.0020	0.0022	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0006	0	0.0008	0	0	0.0008	0.0068	0.0035	0.0028	0.0021	0.687	0.04340	T	0.571	0.08777	T	.	.	.	.	.	.	0.009778	0.30209	N	0.351403	0.961237	0.26115	N	.	.	.	2.29	0.17113	T	-0.2	0.10136	N	0.132	0.12770	-1.0087	0.27323	T	0.019	0.07753	T	9	0.0059088767	0.00132	T	0.010117	0.26280	T	0.028	0.06331	.	.	0.388334884743	0.38444	.	.	0.304225670694	0.32734	0.409045338631	0.26325	T	0.009792	0.08886	T	-0.688184	0.00043	T	-0.760764	0.03085	T	0.00152729218825698	0.00015	T	0.732627	0.34815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.;.	.;.	0.587398	0.09560	6.334	0.82687143611899494	0.14322	0.72573	0.35517	D	AEFBI	0.093252	0.18870	N	-0.79815059824682	0.13359	0.6574899	-0.734873216913109	0.16095	0.8497798	0.00545800343659812	0.10944	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	-2.27	0.06458	0.203000	0.17113	-0.343000	0.09801	-0.065000	0.16512	0.979000	0.35152	0.001000	0.17328	0.625000	0.32026	0.5504:0.0:0.4496:0.0	12.624	0.55979	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.017544	0.000000	0.008621	0.006098	0.007576	0.02632	1204.33	33	chr17	80349770	.	A	G	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.271;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.613;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1433	18	0	1	0
chr17	80923510	80923510	G	T	exonic	RPTOR	.	nonsynonymous SNV	RPTOR:NM_001163034:exon19:c.G2171T:p.S724I,RPTOR:NM_020761:exon23:c.G2645T:p.S882I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0120106583633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.29688	T	0.449	0.70582	T	0.468	0.36503	P	0.08	0.28873	B	0.000000	0.84330	D	0.000000	0.999794	0.52935	D	0.805	0.20218	L	0.87	0.46412	T	-1.77	0.41809	N	0.836	0.83167	-1.0402	0.17253	T	0.120	0.41865	T	10	0.33210427	0.50422	T	0.012011	0.30193	T	0.167	0.42761	0.261	0.20473	0.274431252636	0.27063	0.5404935340448753	0.53974	0.926566427974	0.71669	0.573300659657	0.49144	T	0.44598	0.78879	T	0.0592653	0.59521	T	-0.152646	0.59008	T	0.932194411754608	0.59807	D	0.970303	0.90628	D	0.50326675	0.67286	0.1940348	0.43004	0.50326675	0.67287	0.1940348	0.43003	-8.464	0.64191	D	.	.	0.138	0.75665	B	.;.;.	.;.;.	4.118241	0.61538	24.3	0.99687195827452924	0.79641	0.98823	0.87323	D	AEFBI	0.858119	0.77557	D	0.302535149538904	0.56279	3.792314	0.404269234066322	0.61831	4.38879	0.999997338293918	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.02	5.02	0.66742	9.051000	0.93302	11.672000	0.94114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.0:1.0:0.0	18.356	0.90301	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1208.33	34	chr17	80923510	.	G	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.278;DP=722;ExcessHet=0;FS=1.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.83;SOR=0.531	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1549	18	0	1	0
chr17	81126506	81126506	C	T	exonic	AATK	.	nonsynonymous SNV	AATK:NM_004920:exon6:c.G367A:p.D123N,AATK:NM_001080395:exon7:c.G676A:p.D226N	.	419	1101	2	0	0	2	0.000907441	.	.	.	3235571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.539	0.357949306167	.	0.000399361	0.0012	0	0	0	0	0	0.0064	0.0022	0.0001876	29	154602	rs533211832	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	0.0002	2.781e-05	0	0	2.082e-05	0.0014	7.877e-05	0.0003	0.0020	0.0001	0.0001	8.994e-05	0.0002	0.0017	8.163e-05	6.72e-05	0.0008	0.0006	9.623e-05	0	0	0	0	0	0.0034	7.351e-05	0.0005	0.0017	0.014	0.53172	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000074	0.52346	D	0.125140	0.999887	0.50402	D	1.04	0.26193	L	-2.53	0.89430	D	-4.49	0.78046	D	0.583	0.61511	0.603	0.91943	D	0.728	0.90690	D	10	0.065513074	0.08850	T	0.357949	0.92438	D	0.539	0.80723	.	.	0.812813489306	0.81105	0.30556581421117324	0.30469	0.715498813726	0.61956	0.546222448349	0.45323	T	0.417613	0.77021	T	-0.359643	0.04150	T	-0.296163	0.45128	T	0.153325481049975	0.17365	T	0.927907	0.73422	D	0.40855777	0.61320	0.38749728	0.63617	0.40855777	0.61321	0.38749728	0.63617	-10.674	0.77840	D	.	.	0.223	0.47094	B	.;.;.;.	.;.;.;.	5.076647	0.84698	28.4	0.99856024793495934	0.93458	0.98139	0.79933	D	AEFDBI	0.890578	0.82574	D	0.452082672671547	0.64319	4.684003	0.384745294474035	0.60624	4.25206	0.999999999693861	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.07	4.07	0.46726	3.011000	0.49254	5.671000	0.49256	0.545000	0.25583	0.992000	0.37556	1.000000	0.68203	0.299000	0.24476	0.0:1.0:0.0:0.0	16.052	0.80573	.	.	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1055.33	36	chr17	81126506	.	C	T	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=715;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.864;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr17	81189952	81189952	T	C	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon24:c.A3023G:p.K1008R,CEP131:NM_001319229:exon24:c.A3032G:p.K1011R,CEP131:NM_001319228:exon25:c.A3140G:p.K1047R,CEP131:NM_014984:exon25:c.A3131G:p.K1044R	.	0	225	1	0	0	1	0.00221729	.	.	.	2295886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.0842123836359	.	.	9.333e-05	0	8.767e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs768601249	7.952e-05	8.003e-05	5.726e-05	0.0001	0.0023	6.748e-05	6.28e-05	0.0013	0.0011	0.0001	0.0002	3.835e-05	0	0	0.0023	6.484e-05	0.0001	0.0001	8.543e-05	8.537e-05	0.0001	4.035e-05	0.0004	4.957e-05	3.963e-05	7.282e-05	3.052e-05	0.0001	0	6.542e-05	0	0	0	0	7.352e-05	0	0.0004	0.012	0.54683	D	0.079	0.49663	T	0.999	0.77913	D	0.964	0.72923	D	0.000000	0.84330	D	0.000000	0.999852	0.49910	D	2.215	0.62545	M	1.55	0.29866	T	-2.36	0.52128	N	0.698	0.73645	-0.9281	0.44415	T	0.163	0.49881	T	10	0.23944527	0.41085	T	0.084212	0.74278	D	0.154	0.40340	.	.	0.576573652137	0.57326	0.5823094729871933	0.58159	0.348132503314	0.36690	0.631657481194	0.57381	T	0.145272	0.48230	T	-0.235023	0.15989	T	-0.320325	0.42540	T	0.231581702828407	0.22027	T	0.820618	0.54589	T	0.19999005	0.41959	0.2778048	0.53736	0.19999005	0.41958	0.2778048	0.53735	-7.154	0.56188	T	.	.	0.232	0.55018	B	.;.;.;.;.	.;.;.;.;.	4.246635	0.64428	24.7	0.99862102318413215	0.94093	0.93503	0.58394	D	AEFDGBHCI	0.633900	0.61397	D	0.454102552142901	0.64435	4.698163	0.408640145312235	0.62101	4.420148	0.999998354297356	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.683535	0.66460	0	.	.	4.97	4.97	0.65419	2.387000	0.44043	4.815000	0.45072	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:0.0:1.0	14.287	0.65803	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1556.33	80	chr17	81189952	.	T	C	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.606;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=1.68;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr17	81207235	81207235	T	C	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon4:c.A277G:p.T93A,CEP131:NM_001319228:exon4:c.A277G:p.T93A,CEP131:NM_001319229:exon4:c.A277G:p.T93A,CEP131:NM_014984:exon4:c.A277G:p.T93A	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0101371068621	0.0002	0.000199681	0.0006	0	0.0002	0	0	0.0002	0	0.0035	0.0004722	73	154602	rs375803496	0.0003	0.0004	0.0002	0.0005	0.0034	0.0003	0.0003	0.0031	0.0030	2.989e-05	0.0002	3.828e-05	0	0	0.0024	0.0002	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0010	7.574e-05	6.28e-05	0.0004	0.0003	7.219e-05	0	0.0003	0	0	0	0	8.823e-05	0	0.0010	0.621	0.05293	T	0.767	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	0.329952	0.14130	N	0.684465	1	0.08975	N	-2.08	0.00163	N	2.63	0.12884	T	0.51	0.02898	N	0.053	0.03175	-0.9767	0.35749	T	0.011	0.04274	T	10	0.0052967668	0.00116	T	0.010137	0.26324	T	0.122	0.33800	.	.	0.0401082797425	0.02173	0.06369556506313895	0.06308	0.0887497459369	0.10036	0.315945357084	0.12807	T	0.023248	0.17779	T	-0.742991	0.00020	T	-0.842768	0.01058	T	0.0178249861706276	0.00510	T	0.250075	0.03765	T	0.014332779	0.00089	0.030699758	0.01560	0.014332779	0.00089	0.030699758	0.01560	-2.459	0.05607	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	-0.191130	0.03136	0.504	0.55051491788349805	0.05262	0.00104	0.00666	N	AEFDBI	0.020466	0.00811	N	-1.21114386039058	0.04837	0.2191516	-1.0583147804228	0.08534	0.4200834	0.23242330476472	0.18480	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	0.642000	0.24426	0.415000	0.18155	-0.964000	0.01968	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9204:0.0:0.0796	12.088	0.53008	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	810.33	37	chr17	81207235	.	T	C	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=749;ExcessHet=0;FS=1.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.303;SOR=0.511	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	81219927	81219927	G	A	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon2:c.C130T:p.R44C,CEP131:NM_001319228:exon2:c.C130T:p.R44C,CEP131:NM_001319229:exon2:c.C130T:p.R44C,CEP131:NM_014984:exon2:c.C130T:p.R44C	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.110970886914	0.0037	0.00139776	0.0027	0.0012	0.0009	0	0	0.0040	0.0022	0.0022	0.002943	455	154602	rs145522664	0.0044	0.0044	0.0046	0.0042	0.0053	0.0043	0.0043	0.0052	0.0051	0.0010	0.0016	0.0006	2.535e-05	0.0003	0.0019	0.0053	0.0042	0.0018	0.0032	0.0032	0.0033	0.0030	0.0051	0.0029	0.0028	0.0047	0.0045	0.0009	0	0.0043	0.0012	0	0.0003	0	0.0051	0.0052	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999724	0.48557	D	2.7	0.79018	M	1.79	0.25509	T	-3.98	0.74742	D	0.809	0.84609	-0.8670	0.50754	T	0.145	0.46786	T	10	0.0599505	0.07287	T	0.110971	0.78856	D	0.365	0.68495	.	.	0.579924211245	0.57663	0.4568264573961513	0.45600	0.567003115594	0.52971	0.485972076654	0.36880	T	0.249206	0.61912	T	-0.204921	0.20099	T	-0.0634058	0.66094	T	0.0580932877236283	0.06865	T	0.919108	0.70849	D	0.5120942	0.67801	0.25919396	0.51664	0.5120942	0.67802	0.25919396	0.51663	-9.309	0.69877	D	.	.	0.235	0.46802	B	.;.;.;.	.;.;.;.	4.671520	0.74661	26.2	0.99913180966288684	0.98167	0.93200	0.57586	D	AEFBI	0.482226	0.52319	N	0.494767796363827	0.66783	4.995038	0.385076868220597	0.60644	4.254305	0.679152059616627	0.22458	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.72	3.72	0.41857	6.103000	0.71146	7.238000	0.57892	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.0:1.0:0.0	12.780	0.56850	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1130.33	113	chr17	81219927	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=931;ExcessHet=0;FS=2.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.811;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr17	81239923	81239923	A	G	exonic	NDUFAF8	.	nonsynonymous SNV	NDUFAF8:NM_001353403:exon2:c.A17G:p.K6R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	30.18	1	chr17	81239923	.	A	G	30.18	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=38;ExcessHet=0;FS=0;InbreedingCoeff=-0.1159;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:5,0:5:12:0,12,180	15	0	1	3
chr17	81426913	81426913	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon3:c.C292T:p.P98S,BAHCC1:NM_001377448:exon3:c.C292T:p.P98S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013216771	0.0001	7.472e-05	0.0001	0.0002	0.0008	9.756e-05	8.476e-05	0.0001	9.78e-05	0.0001	0	0	0.0002	0	0.0008	0.0002	6.105e-05	0	0.0001	0.0001	0.0002	0.0001	0.0010	8.66e-05	7.253e-05	0.0004	0.0002	0.0001	0	0	0	0.0010	0	0	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	0.08898	T	1.62	0.00637	N	0.085	0.06454	.	.	.	.	.	.	.	0.028912544	0.01020	T	.	.	.	.	.	.	.	.	.	0.24770089136876453	0.24684	.	.	.	.	.	0.072149	0.34383	T	.	.	.	.	.	.	.	.	.	0.465553	0.13627	T	.	.	.	.	.	.	.	.	-2.986	0.10031	T	.	.	0.048	0.00096	B	.;.	.;.	-0.389760	0.02250	0.231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617000	0.24053	0.238000	0.16272	-1.103000	0.01505	0.754000	0.29177	0.141000	0.23092	0.019000	0.11356	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	434.33	33	chr17	81426913	.	C	T	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.069;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	18	0	1	0
chr17	81442340	81442340	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G991A:p.G331R,BAHCC1:NM_001377448:exon5:c.G991A:p.G331R	.	396	1103	21	2	0	25	0.0112057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.00419329	0.0177	0.0083	0.0312	0	0	0.0201	0	0.0182	0.0033635	520	154602	rs200635626	0.0073	0.0068	0.0068	0.0076	0.0121	0.0071	0.0070	0.0114	0.0111	0.0012	0.0051	0.0033	3.16e-05	0.0011	0.0055	0.0087	0.0059	0.0121	0.0054	0.0054	0.0058	0.0049	0.0120	0.0051	0.0050	0.0095	0.0087	0.0015	0.0033	0.0054	0.0043	0.0002	0.0011	0	0.0084	0.0090	0.0120	0.011	0.55530	D	0.283	0.21478	T	0.804	0.45171	P	0.084	0.29270	B	.	.	.	.	0.999999	0.08975	N	2.3	0.65703	M	2.79	0.11189	T	-2.2	0.49519	N	0.455	0.56058	-1.0086	0.27354	T	0.016	0.06473	T	9	0.006036341	0.00136	T	.	.	.	0.048	0.13305	0.12	0.02719	0.0806252709748	0.07271	0.12245195582152993	0.12172	0.502331297958	0.48594	0.842930495739	0.88540	D	0.230255	0.59628	T	-0.491739	0.00636	T	-0.468737	0.25653	T	0.0146539307956324	0.00303	T	0.80392	0.45897	T	0.07046136	0.15523	0.14767307	0.34938	0.07046136	0.15523	0.14767307	0.34937	-3.643	0.18481	T	.	.	0.327	0.55011	B	.;.	.;.	4.551593	0.71641	25.7	0.99801142503588558	0.88550	0.06367	0.12368	N	AEFBI	0.063739	0.12337	N	-0.398987019648809	0.25505	1.385015	-0.436542158329562	0.23934	1.30782	0.0064609846732517	0.11222	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.23	1.86	0.24489	1.691000	0.37340	8.301000	0.76932	0.585000	0.30472	0.756000	0.29198	1.000000	0.68203	0.489000	0.28769	0.1289:0.4504:0.4206:0.0	5.753	0.17426	.	.	.;.	RP13-516M14.10	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2290.79	70	chr17	81442340	.	G	A	2290.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.44;DP=949;ExcessHet=0.3672;FS=0.559;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.412;SOR=0.784	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	16	0	3	0
chr17	81442688	81442688	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon5:c.G1339A:p.E447K,BAHCC1:NM_001377448:exon5:c.G1339A:p.E447K	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.121066796313	0.0002	.	9.719e-05	0.0001	0.0001	0	0	9.681e-05	0	0.0001	9.06e-05	14	154602	rs374020665	0.0001	0.0001	0.0001	0.0001	0.0012	9.696e-05	8.891e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0012	0.0002	3.051e-05	2.896e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.666e-05	7.257e-05	0.0001	0.0001	7.237e-05	0	6.543e-05	0	0	0	0	0.0002	0	0	0.173	0.22573	T	0.183	0.29249	T	0.89	0.48942	P	0.119	0.32162	B	.	.	.	.	0.617887	0.30805	N	1.495	0.37439	L	2.68	0.12371	T	-1.37	0.33998	N	0.527	0.58543	-1.0540	0.13305	T	0.022	0.09559	T	9	0.22125944	0.38846	T	0.121067	0.80174	D	0.181	0.45247	.	.	0.0482279557977	0.04254	0.24843366188359162	0.24757	0.483180356244	0.47271	0.913579404354	0.97797	D	0.123885	0.44855	T	-0.13142	0.31268	T	-0.200851	0.54566	T	0.0249266748379798	0.01262	T	0.869013	0.57273	D	0.11215474	0.26498	0.32054007	0.58008	0.11215474	0.26498	0.32054007	0.58007	-5.61	0.42883	T	.	.	0.302	0.53135	B	.;.	.;.	4.531133	0.71134	25.6	0.99892643056560815	0.96666	0.71757	0.35152	D	AEFBI	0.242086	0.36360	N	-0.105851904861486	0.37137	2.156345	-0.0874570067037931	0.35907	2.083076	0.219527000972649	0.18339	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.89	3.89	0.44098	1.460000	0.34855	9.733000	0.81406	0.585000	0.30472	0.956000	0.33378	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	14.818	0.69676	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1908.33	33	chr17	81442688	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=796;ExcessHet=0;FS=3.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.049;SOR=0.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr17	81445562	81445562	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.C3044T:p.P1015L,BAHCC1:NM_001377448:exon10:c.C3044T:p.P1015L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0129184248862	.	.	0.0002	0	0.0016	0	0	0.0001	0	0.0003	3.88e-05	6	154602	rs782112435	8.222e-05	8.747e-05	6.471e-05	9.71e-05	0.0008	6.332e-05	5.673e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0008	7.148e-05	6.469e-05	7.924e-05	0.0001	0.0001	0.0001	6.718e-05	0.0004	6.51e-05	5.321e-05	0.0001	8.281e-05	0	0	0.0003	0	0	0	0	0.0001	0.0009	0.0004	0.043	0.41364	D	0.043	0.49942	D	0.019	0.20242	B	0.004	0.12133	B	0.014508	0.28512	N	0.231707	0.999508	0.47320	D	1.435	0.35949	L	2.23	0.18083	T	-6.69	0.92433	D	0.422	0.46180	-1.0558	0.12829	T	0.026	0.11131	T	10	0.03357041	0.01537	T	0.012918	0.31907	T	0.109	0.30843	.	.	0.0884992946249	0.08302	0.22989762915942735	0.22904	0.0852180447712	0.09633	0.547501683235	0.45505	T	0.533314	0.83889	D	-0.506496	0.00526	T	-0.602289	0.12620	T	0.0414021135306291	0.03945	T	0.733627	0.34942	T	0.045283347	0.07385	0.08000246	0.18060	0.045283347	0.07385	0.08000246	0.18059	-4.735	0.33824	T	.	.	0.135	0.29283	B	.;.	.;.	2.390739	0.30700	18.52	0.95068962337292395	0.26106	0.56310	0.30084	D	AEFDBI	0.097578	0.19678	N	-0.858810386479831	0.11834	0.5733007	-0.804947764401323	0.14376	0.7508223	0.0393510304796575	0.14390	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.39	1.16	0.19936	0.626000	0.24185	0.931000	0.22780	-0.249000	0.07183	0.465000	0.26683	0.712000	0.26298	0.426000	0.27362	0.0:0.6635:0.2531:0.0835	8.809	0.34115	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	42	chr17	81445562	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=746;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.079;SOR=0.851	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1309	18	0	1	0
chr17	81445621	81445621	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.G3103A:p.A1035T,BAHCC1:NM_001377448:exon10:c.G3103A:p.A1035T	.	418	1089	14	1	0	16	0.00729262	.	.	.	2818087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	.	0.0003	0.000399361	0.0038	0	0.0014	0	0	0.0011	0.0105	0.0084	0.0007568	117	154602	rs368906845	0.0013	0.0013	0.0008	0.0017	0.0077	0.0012	0.0012	0.0071	0.0069	0.0002	0.0005	0.0015	9.043e-05	4.137e-05	0.0068	0.0004	0.0009	0.0077	0.0005	0.0005	0.0004	0.0006	0.0070	0.0004	0.0004	0.0052	0.0045	0	0	0.0003	0.0003	0	0	0.0136	0.0004	0	0.0070	1.0	0.00964	T	0.644	0.09931	T	0.002	0.12996	B	0.001	0.08700	B	0.503324	0.05105	N	1.424980	1	0.08975	N	0.46	0.12951	N	2.73	0.11839	T	-0.01	0.07155	N	0.075	0.04913	-0.9727	0.36627	T	0.012	0.04700	T	10	0.004210353	0.00084	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09676238022195217	0.09608	0.0816453080078	0.09195	0.281145811081	0.07652	T	0.083094	0.36976	T	-0.656311	0.00066	T	-0.710113	0.05289	T	0.00888549965512409	0.00110	T	0.433057	0.11799	T	0.016313279	0.00190	0.03705782	0.03278	0.016313279	0.00189	0.03705782	0.03278	-4.257	0.27570	T	.	.	0.070	0.03588	B	.;.	.;.	-0.581170	0.01623	0.112	0.89772947412604487	0.19088	0.06100	0.12076	N	AEFBCI	0.058839	0.11068	N	-1.6186443953941	0.01174	0.05104111	-1.63677612583827	0.01446	0.06539116	0.130293067513638	0.17077	0.646311	0.45356	0	0.547309	0.14657	0	0.600433	0.31921	0	0.699875	0.68795	0	.	.	4.39	-3.93	0.03868	-2.317000	0.01203	-1.550000	0.05191	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2954:0.0:0.4448:0.2598	4.382	0.10729	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002572	0.000000	0.002755	0.000000	0.000000	0.009091	0.006289	0.000000	0.02632	1313.33	42	chr17	81445621	.	G	A	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.999;SOR=0.687	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1309	18	0	1	0
chr17	81447639	81447639	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3767T:p.A1256V,BAHCC1:NM_001291324:exon12:c.C3860T:p.A1287V	.	390	1130	1	1	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00939808467228	0.0026	0.00239617	0.0051	0.0015	0.0071	0	0	0.0085	0.004	0.0008	0.0026196	405	154602	rs142418298	0.0033	0.0033	0.0033	0.0033	0.0048	0.0032	0.0031	0.0046	0.0045	0.0013	0.0026	0.0037	2.964e-05	0.0004	0.0007	0.0048	0.0038	0.0005	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0051	0.0049	0.0011	0	0.0047	0.0040	0	0.0005	0.0034	0.0055	0.0057	0.0004	0.27	0.16038	T	0.205	0.27414	T	0.005	0.12996	B	0.005	0.11217	B	0.996062	0.07997	N	0.997282	1	0.08975	N	.	.	.	1.81	0.25182	T	-1.08	0.28084	N	0.014	0.00160	-0.9790	0.35231	T	0.022	0.09193	T	10	0.0049081445	0.00105	T	0.009398	0.24646	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.17422729968219483	0.17341	0.0837104849126	0.09440	0.3782081604	0.22001	T	0.012878	0.11238	T	-0.593334	0.00160	T	-0.623969	0.10876	T	0.00221729881763438	0.00023	T	0.649135	0.26722	T	0.014207058	0.00084	0.031005628	0.01631	0.014207058	0.00084	0.031005628	0.01631	-5.128	0.38201	T	.	.	0.079	0.12465	B	.;.	.;.	0.124521	0.05214	1.723	0.85662281518378458	0.16033	0.13069	0.17645	N	AEFBHCI	0.061524	0.11769	N	-1.22940982936709	0.04578	0.206923	-1.27530979844889	0.04766	0.225622	0.00436527991188606	0.10516	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.07	-1.83	0.07410	-1.140000	0.03321	-2.669000	0.03486	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1419:0.5308:0.0:0.3272	4.966	0.13438	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003543	0.005155	0.006831	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1262.33	110	chr17	81447639	.	C	T	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.534;DP=1055;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.553;SOR=0.542	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	81447737	81447737	C	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3865A:p.P1289T,BAHCC1:NM_001291324:exon12:c.C3958A:p.P1320T	.	411	1091	19	1	0	21	0.00953246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00758786	0.0143	0	0.0021	0.0009	0	0.0018	0.0041	0.0412	0.003965	613	154602	rs374971809	0.0044	0.0045	0.0023	0.0062	0.0351	0.0043	0.0042	0.0339	0.0334	0.0001	0.0003	0.0032	6.017e-05	2.071e-05	0.0037	0.0005	0.0024	0.0351	0.0014	0.0014	0.0007	0.0020	0.0366	0.0012	0.0011	0.0322	0.0305	4.813e-05	0	0.0003	0.0020	0	0	0	0.0002	0.0009	0.0366	0.007	0.59928	D	0.531	0.10354	T	0.16	0.28337	B	0.055	0.25995	B	0.098425	0.19981	U	0.264450	1	0.08975	N	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.112	0.12198	-1.0439	0.16148	T	0.040	0.17362	T	10	0.0033987164	0.00059	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.19832548076815823	0.19749	0.133200117831	0.15002	0.348290145397	0.17670	T	0.021605	0.16798	T	-0.5989	0.00148	T	-0.607987	0.12149	T	0.00799035929684558	0.00094	T	0.550145	0.18957	T	0.03303102	0.03441	0.038209654	0.03641	0.03303102	0.03441	0.038209654	0.03640	-4.344	0.28789	T	.	.	0.075	0.05711	B	.;.	.;.	0.322674	0.06969	3.522	0.57146924706312652	0.05705	0.08754	0.14637	N	AEFBHCI	0.046865	0.07830	N	-1.09240517373598	0.06782	0.313204	-1.15358905926024	0.06703	0.3235752	0.00412081803100164	0.10422	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.87	0.691	0.17208	0.114000	0.15353	0.153000	0.15315	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6942:0.0:0.3058	7.196	0.25030	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010682	0.005102	0.009615	0.000000	0.050000	0.000000	0.012422	0.023077	0.02632	1608.33	110	chr17	81447737	.	C	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1051;ExcessHet=0;FS=5.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-2.652;SOR=0.363	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	81457557	81457557	A	G	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon17:c.A5006G:p.K1669R,BAHCC1:NM_001291324:exon18:c.A5099G:p.K1700R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0697346959139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.36765	T	0.998	0.73220	D	0.994	0.82059	D	0.014766	0.28435	N	0.220955	0.999263	0.46490	D	.	.	.	2.02	0.21119	T	-2.65	0.56787	D	0.304	0.40264	-0.9067	0.47250	T	0.137	0.45318	T	10	0.25220144	0.42571	T	0.069735	0.70810	D	0.147	0.38986	0.307	0.27806	0.239305524855	0.23518	0.4369747951235004	0.43614	0.419475071108	0.42501	0.814431011677	0.84172	D	0.112699	0.64322	T	-0.155214	0.27500	T	-0.460731	0.26518	T	0.981818795204163	0.74127	D	0.892711	0.65471	D	0.14837775	0.33877	0.20512863	0.44668	0.14837775	0.33877	0.20512863	0.44667	-8.322	0.63244	D	.	.	0.439	0.66029	A	.;.	.;.	4.476124	0.69796	25.4	0.99912012903090131	0.98095	0.92342	0.55490	D	AEFDBI	0.618006	0.60397	D	0.632372829984561	0.75231	6.269857	0.584406599254243	0.73822	6.033718	0.999999941486679	0.74766	0.600919	0.35232	0	0.547309	0.14657	0	0.576033	0.28219	0	0.620204	0.46100	0	.	.	4.85	4.85	0.62375	3.291000	0.51470	11.109000	0.86285	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.411	0.60389	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	912.33	84	chr17	81457557	.	A	G	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=886;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-2.156;SOR=0.86	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.02632	1405.33	33	chr17	81460363	.	G	A	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=839;ExcessHet=0;FS=4.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.002;SOR=0.975	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1167	18	0	1	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A,FSCN2:NM_012418:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	0	1516	6	0	0	6	0.00197498	.	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001526	0.005208	0.000000	0.002976	0.000000	0.000000	0.006211	0.000000	0.05263	2034.83	41	chr17	81528871	.	A	G	2034.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.098;DP=887;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.022;SOR=0.684	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1215,0,1052	17	0	2	0
chr17	81535112	81535112	T	C	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon2:c.T887C:p.I296T,FSCN2:NM_012418:exon2:c.T887C:p.I296T	Retinitis pigmentosa 30	0	1521	1	0	0	1	0.000328623	.	.	.	1033775	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.157443045061	0.0002	.	5.998e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs376328590	3.619e-05	3.489e-05	3.143e-05	4.107e-05	4.363e-05	2.784e-05	2.512e-05	3.362e-05	3.012e-05	3.171e-05	0	0	0	0	0	4.363e-05	0	2.532e-05	4.609e-05	4.598e-05	6.432e-05	2.698e-05	7.361e-05	2.113e-05	1.529e-05	2.85e-05	1.861e-05	4.84e-05	0	0	0	0	0	0	7.361e-05	0	0	0.015	0.56456	D	0.033	0.53426	D	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.960112	0.38163	D	2.85	0.82803	M	1.41	0.33412	T	-3.24	0.65171	D	0.562	0.58629	-0.8949	0.48493	T	0.153	0.48205	T	9	0.32506883	0.49822	T	0.157443	0.83802	D	0.148	0.39182	.	.	0.485776496936	0.48210	0.46197777448680655	0.46115	0.441832569809	0.44166	0.698247909546	0.66891	T	0.427891	0.77721	T	-0.312599	0.07521	T	-0.379386	0.35794	T	0.860182404518127	0.51068	D	0.887511	0.61533	D	0.26624388	0.49695	0.23019809	0.48115	0.26624388	0.49694	0.23019809	0.48114	-7.191	0.55416	T	0.5805078816045179	0.64736	0.157	0.34732	B	.;.	.;.	3.877921	0.56346	23.7	0.99806024116230352	0.88995	0.87476	0.47028	D	AEFGBCI	0.620656	0.60564	D	0.194422136520169	0.50931	3.278578	0.198838317345982	0.49784	3.177513	0.972030509490603	0.29337	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.01	2.77	0.31614	5.726000	0.68163	0.869000	0.22297	0.581000	0.30040	1.000000	0.71638	0.575000	0.25592	0.998000	0.85391	0.0:0.158:0.0:0.842	8.878	0.34512	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002364	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023256	0.02632	1964.33	35	chr17	81535112	.	T	C	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.388;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1314	18	0	1	0
chr17	81550703	81550703	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.C791T:p.A264V	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0130256557196	0.0028	0.00259585	0.0033	0.0004	0.0016	0.0002	0.0032	0.0044	0.0023	0.0035	0.0033635	520	154602	rs62076033	0.0049	0.0049	0.0049	0.0048	0.0056	0.0048	0.0047	0.0055	0.0054	0.0007	0.0015	0.0013	7.557e-05	0.0034	0.0047	0.0056	0.0040	0.0035	0.0030	0.0030	0.0034	0.0025	0.0049	0.0027	0.0027	0.0045	0.0043	0.0006	0	0.0016	0.0023	0.0002	0.0028	0.0068	0.0049	0.0038	0.0041	0.103	0.31383	T	0.025	0.56192	D	0.728	0.42542	P	0.503	0.47728	P	0.398824	0.13153	N	0.691562	1	0.08975	N	2.14	0.59869	M	1.36	0.34452	T	-1.97	0.53898	N	0.104	0.08786	-1.0389	0.17648	T	0.059	0.24908	T	10	0.006303638	0.00142	T	0.013026	0.32109	T	0.076	0.22200	.	.	0.37953744168	0.37561	0.32591849425966823	0.32504	0.585194260496	0.54172	.	.	.	0.052243	0.29108	T	-0.494743	0.00612	T	-0.479016	0.24551	T	0.0161791430200552	0.00393	T	0.689931	0.29934	T	0.041566562	0.06145	0.063271634	0.12510	0.041566562	0.06145	0.063271634	0.12510	-4.133	0.25775	T	.	.	0.106	0.25753	B	.;.;.	.;.;.	2.860431	0.37796	20.6	0.99745557317603251	0.83852	0.76383	0.37457	D	AEFDBI	0.119191	0.23274	N	-0.181309181373081	0.33912	1.929522	-0.276643717617471	0.28870	1.613006	0.999925251251128	0.46280	0.67177	0.52595	0	0.685571	0.66316	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.34	1.27	0.20595	1.661000	0.37024	3.366000	0.37896	0.676000	0.76740	0.120000	0.23175	1.000000	0.68203	0.689000	0.33808	0.2856:0.159:0.3926:0.1628	0.873	0.01141	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1632.33	40	chr17	81550703	.	G	A	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=772;ExcessHet=0;FS=1.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.389;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr17	81720332	81720332	G	A	exonic	SLC25A10	.	nonsynonymous SNV	SLC25A10:NM_001270953:exon11:c.G1036A:p.A346T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893317324	8.638e-06	1.163e-05	4.564e-06	1.298e-05	0.0003	4.64e-06	3.39e-06	4.12e-06	2.99e-06	0	0	0	0	0	0.0003	8.761e-06	1.893e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	.	.	.	0.116	0.36497	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	0.11711529	0.22111	T	.	.	.	.	.	.	.	0.481764910267	0.47805	0.0031318224286800193	0.00292	.	.	.	.	.	.	.	.	-0.248478	0.14285	T	-0.594698	0.13261	T	.	.	.	0.266473	0.04381	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10256	B	.	.	-0.065647	0.03851	0.830	0.47311129091255383	0.03858	0.01368	0.04673	N	AEFBI	.	.	.	.	.	.	.	.	.	0.995489698822728	0.34152	0.256867	0.04430	0	0.271743	0.05004	0	0.295636	0.05589	0	0.24566	0.04862	0	0.0510867	0.10242	3.36	-6.72	0.01591	-2.184000	0.01338	-2.365000	0.03846	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3159:0.3284:0.3556:0.0	6.786	0.22858	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1560.33	38	chr17	81720332	.	G	A	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=817;ExcessHet=0;FS=8.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.46;SOR=0.239	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr17	81813555	81813556	AG	-	exonic	GCGR	.	frameshift deletion	GCGR:NM_000160:exon14:c.1300_1301del:p.R434Gfs*37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002513	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.020408	0.02632	2558.29	35	chr17	81813554	.	CAG	C	2558.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.928;DP=772;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.781;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	18	0	1	0
chr17	81868697	81868697	G	C	exonic	ARHGDIA	.	nonsynonymous SNV	ARHGDIA:NM_001301242:exon7:c.C682G:p.P228A	Nephrotic syndrome, type 8, Autosomal recessive	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	.	0	0	0.0012	7.76e-05	12	154602	rs563157861	9.914e-05	9.645e-05	5.714e-05	0.0001	0.0012	8.56e-05	8.022e-05	0.0010	0.0009	0	0.0003	0.0009	0	0	0.0002	2.782e-06	0.0002	0.0012	5.913e-05	5.906e-05	7.712e-05	4.032e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.992e-05	0	0	6.539e-05	0.0012	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999991	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011080116	0.00244	T	.	.	.	.	.	.	.	0.264728329957	0.26087	.	.	.	.	.	.	.	0.00533	0.04780	T	-0.50553	0.00532	T	-0.534314	0.18859	T	.	.	.	0.253275	0.03871	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00321	B	.	.	0.421013	0.07917	4.622	0.58777693081815685	0.06071	0.30059	0.23984	N	ALL	0.090433	0.18324	N	.	.	.	.	.	.	0.999999999983098	0.74766	0.741868	0.97996	0	0.696144	0.67643	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	2.29	-0.0892	0.13005	-0.516000	0.06367	0.094000	0.14556	-0.113000	0.14837	0.000000	0.06391	0.791000	0.26863	0.003000	0.05239	0.1752:0.0:0.5494:0.2754	2.723	0.04883	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	35	chr17	81868697	.	G	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=697;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.24;SOR=0.878	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1247	18	0	1	0
chr17	81902740	81902740	G	A	exonic	NPB	.	nonsynonymous SNV	NPB:NM_148896:exon2:c.G370A:p.A124T	.	389	1126	7	0	0	7	0.00309872	.	.	.	2341987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0152133224257	0.0005	0.000199681	0.0007	0	0.0002	0	0.0008	0.0009	0.0013	0.0012	0.0005757	89	154602	rs202156046	0.0006	0.0006	0.0006	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	9.108e-05	0.0003	7.708e-05	0	0.0008	0.0014	0.0006	0.0007	0.0015	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	4.812e-05	0.0011	0.0001	0	0	0.0005	0	0.0008	0	0.0006	0.293	0.14843	T	0.496	0.11335	T	0.611	0.39680	P	0.131	0.32951	B	0.443767	0.12594	U	0.733784	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.54	0.16598	N	0.075	0.09207	-1.0221	0.23031	T	0.028	0.11795	T	9	0.010819614	0.00239	T	0.015213	0.35810	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.12886301960281968	0.12811	0.270606182261	0.29581	0.458760738373	0.33140	T	0.01405	0.45898	T	-0.582215	0.00187	T	-0.654639	0.08632	T	0.0163782825275859	0.00406	T	0.275672	0.04719	T	0.030263998	0.02661	0.04078327	0.04486	0.030263998	0.02660	0.04078327	0.04486	-4.384	0.29339	T	.	.	0.112	0.22024	B	.;.	.;.	-1.055656	0.00696	0.020	0.85800046621260073	0.16120	0.05472	0.11354	N	AEFDBHCI	0.068458	0.13505	N	-1.25286918540939	0.04262	0.1920047	-1.3856289121352	0.03404	0.1587379	0.99999971656625	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.64067	0.45733	0	0.664235	0.64389	0	.	.	4.13	-3.63	0.04238	-2.744000	0.00867	-3.935000	0.02442	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2066:0.2835:0.3843:0.1256	2.394	0.04118	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.008772	0.000000	0.011364	0.02632	1405.33	34	chr17	81902740	.	G	A	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=736;ExcessHet=0;FS=3.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.212;SOR=0.408	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1223	18	0	1	0
chr17	81940937	81940937	G	A	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.C805T:p.R269W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00537417278068	.	.	0.0004	0.0005	0	0	0	0	0	0.0008	4.53e-05	7	154602	rs767320390	5.938e-05	5.678e-05	3.246e-05	8.704e-05	0.0008	4.89e-05	4.498e-05	0.0006	0.0006	3.166e-05	0	3.972e-05	0	0	0	1.02e-05	0.0001	0.0008	4.596e-05	4.593e-05	6.425e-05	2.686e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	2.406e-05	0	0	0.0003	0	0	0	1.47e-05	0	0.0008	0.158	0.23905	T	0.07	0.43721	T	0.001	0.07471	B	0.003	0.08700	B	0.119845	0.19058	N	0.556339	1	0.08975	N	1.3	0.32576	L	1.75	0.26152	T	-1.68	0.40082	N	0.135	0.13198	-1.0623	0.11190	T	0.026	0.11264	T	10	0.032511383	0.01404	T	0.005374	0.13771	T	0.010	0.01040	0.504	0.59770	0.0297737177859	0.01360	0.5005716494116064	0.49978	.	.	0.226461648941	0.01716	T	0.005129	0.04570	T	-0.563916	0.00240	T	-0.633244	0.10170	T	0.00843846835652675	0.00102	T	0.886311	0.61284	D	0.05052898	0.09141	0.0415133	0.04735	0.05052898	0.09141	0.0415133	0.04735	-7.116	0.54875	T	.	.	0.091	0.13080	B	.	.	0.961608	0.13381	9.887	0.70332338120075033	0.09261	0.08408	0.14341	N	AEFDBI	0.281511	0.39507	N	-1.4829487650627	0.01970	0.08651117	-1.52273953641506	0.02170	0.09938864	0.0397791483931203	0.14409	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.68	-2.89	0.05326	0.187000	0.16806	0.260000	0.16533	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1481:0.0825:0.3341:0.4353	3.451	0.07066	.	.	Marvel domain|Marvel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2487.33	64	chr17	81940937	.	G	A	2487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=1318;ExcessHet=0;FS=4.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=2.13;SOR=0.94	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr17	82019670	82019670	A	G	exonic	CENPX	.	nonsynonymous SNV	CENPX:NM_001271006:exon3:c.T113C:p.M38T,CENPX:NM_001330536:exon3:c.T113C:p.M38T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0855398314856	.	.	6.367e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs767117744	3.577e-06	3.42e-06	2.823e-06	4.351e-06	6.31e-05	1.05e-06	7.6e-07	2.443e-05	1.538e-05	0	0	0	0	0	0	0	0	6.31e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.178	0.31730	T	.	.	.	.	.	.	0.017650	0.27670	U	0.114681	1	0.81001	D	.	.	.	.	.	.	-2.08	0.47514	N	0.394	0.43514	-1.0143	0.25561	T	0.105	0.38464	T	5	0.514854	0.62306	D	0.08554	0.74554	D	0.217	0.51112	0.74	0.87232	0.262679179196	0.25893	0.10441969508010239	0.10371	0.00146351753017	0.00125	0.52828836441	0.42793	T	0.019568	0.45595	T	-0.060789	0.42785	T	-0.197317	0.54900	T	0.0798190608620644	0.09964	T	0.509249	0.18617	T	0.17934643	0.39001	0.16536207	0.38259	0.17934643	0.39000	0.16536207	0.38258	-5.495	0.41821	T	.	.	0.094	0.53739	B	.;.;.	.;.;.	0.726220	0.10952	7.619	0.68442608978830899	0.08660	0.63405	0.32079	D	AEFBCI	0.371548	0.45752	N	-0.0971275671908048	0.37517	2.183904	-0.131735045604154	0.34118	1.959054	0.99999993329178	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	3.89	3.89	0.44098	1.255000	0.32512	-0.348000	0.09765	-0.057000	0.16691	0.010000	0.18352	0.000000	0.08366	0.057000	0.15750	1.0:0.0:0.0:0.0	10.316	0.42920	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	920.33	35	chr17	82019670	.	A	G	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.296;DP=760;ExcessHet=0;FS=2.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.606;SOR=0.949	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr17	82037482	82037482	T	C	exonic	DCXR	.	nonsynonymous SNV	DCXR:NM_001195218:exon2:c.A112G:p.T38A,DCXR:NM_016286:exon2:c.A118G:p.T40A	.	4	1506	12	0	0	12	0.00396825	.	.	.	2355226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.28319337598	.	.	0.0009	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs748809586	0.0001	0.0001	9.285e-05	0.0002	0.0017	0.0001	0.0001	0.0012	0.0011	0	5.486e-05	0	0	0	0.0017	6.851e-05	0.0001	0.0014	0.0001	0.0001	7.714e-05	0.0001	0.0010	7.091e-05	5.747e-05	0.0004	0.0003	2.41e-05	0	0	0	0	0	0	0.0001	0.0009	0.0010	0.014	0.53172	D	0.05	0.48080	T	0.1	0.25713	B	0.168	0.35187	B	0.000039	0.55875	D	0.119707	0.998	0.44627	D	0.24	0.09707	N	1.96	0.87352	T	-4.12	0.75058	D	0.146	0.14763	-1.0575	0.12388	T	0.032	0.13898	T	9	0.048543125	0.04318	T	0.283193	0.90304	D	0.080	0.23350	0.339	0.32979	0.840640433623	0.83911	0.7082919502271849	0.70771	0.44341422506	0.44268	0.801524281502	0.82195	T	0.107848	0.42039	T	-0.354193	0.04469	T	-0.306178	0.44067	T	0.0934901164785328	0.11626	T	0.918408	0.73561	D	0.7222465	0.79286	0.57929873	0.75618	0.7222465	0.79288	0.57929873	0.75619	-10.277	0.75554	D	.	.	0.318	0.54485	B	.;.	.;.	3.531716	0.49552	22.8	0.58916872520815222	0.06102	0.83898	0.42989	D	ALL	0.400328	0.47526	N	-0.57909166074109	0.19580	1.025909	-0.553674126368554	0.20709	1.116947	0.999999999999997	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.81	2.51	0.29435	1.158000	0.31347	3.168000	0.36599	0.643000	0.52288	0.760000	0.29243	1.000000	0.68203	0.002000	0.04165	0.1459:0.0803:0.0:0.7738	6.04	0.18954	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001584	0.000000	0.001416	0.000000	0.000000	0.008929	0.000000	0.000000	0.05263	1105.83	34	chr17	82037482	.	T	C	1105.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.12;DP=669;ExcessHet=0.119;FS=1.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.049;SOR=0.475	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	17	0	2	0
chr17	82051640	82051657	GGGCCGGGGCGGGGGTCC	-	exonic	RFNG	.	nonframeshift deletion	RFNG:NM_002917:exon1:c.110_127del:p.R37_A42del	.	584	926	6	2	4	14	0.00537057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	0	.	.	0	3.84e-05	1	26028	rs774584429	0.0008	0.0006	0.0008	0.0008	0.0168	0.0007	0.0007	0.0153	0.0147	0.0003	0.0002	0.0018	0.0001	0.0009	0.0009	0.0004	0.0017	0.0168	0.0012	0.0012	0.0009	0.0015	0.0181	0.0011	0.0010	0.0150	0.0139	0.0002	0	0.0002	0.0044	0	0.0005	0	0.0008	0.0019	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	303.54	9	chr17	82051639	.	GGGGCCGGGGCGGGGGTCC	G	303.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.765;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=30.35;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	18	0	1	0
chr17	82080431	82080431	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon40:c.C6986T:p.P2329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00449159257396	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173622836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.302	0.20228	T	0.004	0.12183	B	0.003	0.08700	B	0.024510	0.26249	N	0.392341	0.969475	0.38730	D	0.695	0.17993	N	1.76	0.25996	T	-2.5	0.54382	D	0.529	0.55799	-1.0762	0.08104	T	0.033	0.14117	T	10	0.30888435	0.48381	T	0.004492	0.11031	T	0.077	0.22490	0.534	0.64293	0.358048530964	0.35414	0.44724167969934414	0.44642	.	.	0.387632161379	0.23336	T	0.320309	0.69151	T	-0.179817	0.23763	T	-0.496071	0.22755	T	0.124526243835809	0.14866	T	0.790821	0.43180	T	0.13812089	0.31956	0.13515916	0.32368	0.13812089	0.31956	0.13515916	0.32368	-4.789	0.34463	T	.	.	0.084	0.10014	B	.;.	.;.	1.785173	0.22693	15.72	0.93676513941104589	0.23575	0.97209	0.73334	D	AEFDBCI	0.405426	0.47832	N	-0.607189723263872	0.18727	0.9746026	-0.546642935208082	0.20895	1.12786	0.960514597896119	0.28494	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.02	2.96	0.33383	1.114000	0.30811	6.582000	0.56000	0.618000	0.50648	0.848000	0.30412	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.5413:0.4587	9.232	0.36607	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	35	chr17	82080431	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.903;DP=739;ExcessHet=0;FS=5.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.019;SOR=0.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr17	82083569	82083569	G	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon31:c.C5289A:p.H1763Q	.	0	1518	4	0	0	4	0.00131579	.	.	.	1507123	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.0410935839337	.	.	1.729e-05	0	0	0	0	1.575e-05	0	6.227e-05	1.29e-05	2	154602	rs778156553	2.602e-05	2.599e-05	2.316e-05	2.891e-05	0.0003	1.934e-05	1.694e-05	7.124e-05	5.482e-05	0	0	0	0	0	0.0003	2.068e-05	3.313e-05	0.0001	3.281e-05	3.28e-05	3.853e-05	2.684e-05	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0009	0	0.005	0.63226	D	0.039	0.51112	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.555	0.39373	L	3.71	0.04046	T	-5.35	0.84742	D	0.545	0.57177	-1.1950	0.00191	T	0.031	0.13242	T	10	0.55691904	0.64569	D	0.041094	0.59740	D	0.281	0.59861	0.534	0.64293	0.599828052619	0.59664	0.7495310205358348	0.74900	.	.	0.764755725861	0.76638	T	0.439385	0.78469	T	-0.278842	0.10791	T	-0.378634	0.35882	T	0.798870921134949	0.46276	D	0.946205	0.79443	D	0.74022925	0.80305	0.6994654	0.82295	0.74022925	0.80307	0.6994654	0.82296	-7.71	0.59077	D	.	.	0.511	0.65087	A	.;.	.;.	1.495230	0.19227	14.16	0.98583756784845966	0.43271	0.95070	0.63328	D	AEFGBHCI	0.319233	0.42269	N	-0.374821210150638	0.26369	1.438609	-0.598986147096943	0.19519	1.047621	0.992360608159961	0.32813	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	-6.83	0.01532	0.089000	0.14843	-7.037000	0.01246	-0.134000	0.12905	0.922000	0.32020	0.000000	0.08366	0.791000	0.37352	0.8046:0.0:0.1954:0.0	15.631	0.76659	.	.	Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, C-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2010.33	34	chr17	82083569	.	G	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=807;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.727;SOR=0.585	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr17	82089118	82089118	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon14:c.G2155A:p.E719K	.	0	1510	12	0	0	12	0.00395778	.	.	.	438729	Epileptic_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0059	0.00339457	0.0084	0.0042	0.0062	0	0.0020	0.0135	0.0037	0.0031	0.0042108	651	154602	rs12946178	0.0063	0.0063	0.0064	0.0063	0.0067	0.0062	0.0062	0.0065	0.0065	0.0043	0.0041	0.0277	5.482e-05	0.0016	0.0030	0.0067	0.0063	0.0031	0.0054	0.0054	0.0056	0.0052	0.0068	0.0051	0.0050	0.0063	0.0061	0.0042	0.0011	0.0036	0.0282	0.0002	0.0008	0	0.0068	0.0043	0.0023	0.067	0.35918	T	0.06	0.45961	T	0.996	0.68779	D	0.913	0.64886	D	0.000157	0.49130	N	0.136125	0.999937	0.51612	D	1.52	0.38360	L	1.01	0.41058	T	-2.34	0.51811	N	0.463	0.53972	-0.9899	0.32626	T	0.112	0.40168	T	10	0.007240474	0.00165	T	.	.	.	0.175	0.44197	.	.	0.494500015766	0.49084	0.6882328135493098	0.68763	.	.	0.538585305214	0.44246	T	0.476427	0.80707	T	-0.523794	0.00418	T	-0.517209	0.20578	T	0.0264391241644492	0.01466	T	0.890411	0.62412	D	0.4200661	0.62096	0.2971438	0.55747	0.4200661	0.62096	0.2971438	0.55746	-7.239	0.55761	T	.	.	0.140	0.30765	B	.;.	.;.	3.821858	0.55193	23.6	0.99907395407479893	0.97801	0.97180	0.73161	D	AEFDGBHCI	0.673627	0.63962	D	0.0989701595917784	0.46414	2.882152	0.0594138340548689	0.42529	2.573926	0.999997022183106	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.15	3.18	0.35615	4.543000	0.60395	4.699000	0.44401	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.9155:0.0:0.0845	12.165	0.53428	.	.	Acyl transferase|Polyketide synthase, acyl transferase domain;Acyl transferase|Polyketide synthase, acyl transferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006091	0.000000	0.006849	0.002976	0.100000	0.000000	0.003067	0.007634	0.02632	1850.33	35	chr17	82089118	.	C	T	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.749;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.877;SOR=0.731	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1241	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:194,45:239:16:16,0,5234	9	0	7	3
chr17	82436732	82436732	G	A	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_001369488:exon6:c.G421A:p.G141S,HEXD:NM_001330542:exon7:c.G697A:p.G233S,HEXD:NM_173620:exon7:c.G697A:p.G233S,HEXD:NM_001369487:exon8:c.G421A:p.G141S	.	431	1087	4	0	0	4	0.00183655	.	.	.	3273917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00938694115301	.	.	0.0002	0	0	0.0001	0	7.19e-05	0.0015	0.0008	0.00011	17	154602	rs748862815	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0	8.987e-05	0.0005	5.045e-05	0	0.0005	0.0001	0.0002	0.0007	5.909e-05	5.905e-05	7.709e-05	4.029e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	0	0.0006	0	0	0	4.41e-05	0	0.0008	0.255	0.16848	T	0.86	0.17014	T	.	.	.	.	.	.	0.466298	0.12331	N	0.767882	1	0.08975	N	.	.	.	1.52	0.43279	T	0.02	0.06739	N	0.35	0.45426	-0.9752	0.36082	T	0.030	0.12892	T	10	0.020420253	0.00470	T	0.009387	0.24623	T	0.112	0.31546	.	.	0.0551355673512	0.04727	0.4714904332761294	0.47068	0.189338636663	0.21250	0.321428596973	0.13638	T	.	.	.	-0.424298	0.01607	T	-0.457665	0.26854	T	0.00532598591941409	0.00058	T	0.256474	0.24270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08465	B	.;.;.;.;.	.;.;.;.;.	1.378421	0.17898	13.43	0.84668150352143923	0.15427	0.17180	0.19724	N	AEFDGBHCI	0.056432	0.10432	N	-1.35078912469601	0.03117	0.13871	-1.3522550594879	0.03779	0.1769968	0.898374824673666	0.26025	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	5.37	-3.2	0.04838	0.129000	0.15656	-0.652000	0.08023	-0.707000	0.03972	0.003000	0.16062	0.000000	0.08366	0.092000	0.17891	0.5287:0.0:0.3616:0.1097	7.587	0.27167	.	.	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1175.33	33	chr17	82436732	.	G	A	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=768;ExcessHet=0;FS=1.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.813;SOR=0.484	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1478	18	0	1	0
chr17	82437192	82437192	G	A	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_001369488:exon7:c.G452A:p.R151Q,HEXD:NM_001330542:exon8:c.G728A:p.R243Q,HEXD:NM_173620:exon8:c.G728A:p.R243Q,HEXD:NM_001369487:exon9:c.G452A:p.R151Q	.	412	1105	5	0	0	5	0.00225734	.	.	.	2818132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.199	0.0534502764051	0.0013	0.000998403	0.0017	0.0008	0.0031	0.0001	0	0.0023	0.0024	7.837e-05	0.0016817	260	154602	rs61978618	0.0020	0.0020	0.0020	0.0020	0.0042	0.0019	0.0019	0.0029	0.0025	0.0004	0.0029	0.0033	5.103e-05	0.0002	0.0042	0.0022	0.0022	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0023	0.0021	0.0008	0	0.0030	0.0035	0	9.418e-05	0.0034	0.0024	0.0047	0	0.15	0.24661	T	0.224	0.27235	T	.	.	.	.	.	.	0.447444	0.04795	N	1.274100	1	0.08975	N	.	.	.	-2.6	0.89888	D	0.29	0.04161	N	0.296	0.33469	-0.6620	0.62188	T	0.307	0.67759	T	10	0.0118816495	0.00258	T	0.05345	0.65475	D	0.199	0.48268	.	.	0.493964856914	0.49030	0.30445025025136957	0.30358	0.226712902874	0.25215	0.236880138516	0.02516	T	.	.	.	-0.374553	0.03370	T	-0.314787	0.43144	T	0.0045097574038169	0.00048	T	0.781422	0.44511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03026	B	.;.;.;.;.	.;.;.;.;.	0.498680	0.08677	5.450	0.62059662861157794	0.06866	0.04044	0.09486	N	AEFDBCI	0.045696	0.07504	N	-1.29046968090823	0.03789	0.1699009	-1.29803432129694	0.04457	0.2103008	0.390789892734485	0.20045	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.699875	0.68795	0	.	.	5.17	-1.28	0.08834	0.786000	0.26505	1.569000	0.27405	-0.116000	0.14526	0.031000	0.20493	0.737000	0.26456	0.006000	0.07323	0.3979:0.2805:0.3215:0.0	5.171	0.14439	.	.	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2474.33	192	chr17	82437192	.	G	A	2474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=846;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.755;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	18	0	1	0
chr17	82586096	82586096	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.C1472T:p.A491V	.	395	1112	15	0	0	15	0.00669942	.	.	.	715857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.475	.	0.0059	0.00379393	0.0055	0.0012	0.0058	0.0001	0.0035	0.0082	0.0069	0.0009	0.0053686	830	154602	rs12150682	0.0067	0.0066	0.0068	0.0066	0.0102	0.0065	0.0065	0.0081	0.0075	0.0014	0.0060	0.0046	0.0002	0.0043	0.0102	0.0077	0.0063	0.0012	0.0051	0.0051	0.0054	0.0048	0.0078	0.0048	0.0047	0.0072	0.0070	0.0015	0.0033	0.0077	0.0043	0	0.0034	0	0.0078	0.0057	0.0006	0.021	0.49117	D	0.289	0.21078	T	0.015	0.17086	B	0.004	0.10090	B	0.005001	0.33199	N	0.260139	1	0.08975	N	2.16	0.60381	M	-3.34	0.93975	D	-2.07	0.47344	N	0.361	0.40264	-0.2949	0.75127	T	0.481	0.80190	T	10	0.010585904	0.00235	T	.	.	.	0.475	0.76751	.	.	0.947736088309	0.94719	0.2888257309465413	0.28795	0.0536418645846	0.05925	0.518139362335	0.41364	T	0.215675	0.57762	T	-0.104586	0.35665	T	0.0826839	0.75757	D	0.00870454469820071	0.00107	T	0.780822	0.41560	T	0.14337508	0.32955	0.12295554	0.29654	0.14337508	0.32954	0.12295554	0.29654	-4.125	0.25658	T	.	.	0.091	0.12985	B	.	.	3.280943	0.44954	22.0	0.99670068608133344	0.78523	0.82699	0.41891	D	AEFDGBCI	0.212385	0.33808	N	-0.372058707693932	0.26470	1.444825	-0.347771091130667	0.26577	1.468967	0.907593495823822	0.26263	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	3.37	0.37692	2.628000	0.46143	2.899000	0.35438	0.599000	0.40250	0.980000	0.35271	0.995000	0.32472	0.268000	0.23719	0.0:0.7788:0.0:0.2212	9.069	0.35641	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.045455	0.004087	0.014706	0.000000	0.000000	0.003049	0.015152	0.02632	2208.33	34	chr17	82586096	.	C	T	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.58;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.544;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	18	0	1	0
chr17	82722842	82722842	C	T	exonic	FN3KRP	.	nonsynonymous SNV	FN3KRP:NM_024619:exon4:c.C424T:p.R142W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.051683125034	7.7e-05	.	0.0001	9.615e-05	0.0010	0	0	1.501e-05	0	0	9.06e-05	14	154602	rs144422621	3.078e-05	3.215e-05	3.403e-05	2.75e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	2.988e-05	0.0005	0	2.519e-05	3.744e-05	0	1.079e-05	1.656e-05	4.637e-05	5.258e-05	5.254e-05	1.285e-05	9.418e-05	0.0002	2.558e-05	1.831e-05	2.262e-05	9.08e-06	4.829e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.989	0.62824	D	0.773	0.56974	P	0.000149	0.49130	D	0.209202	0.999972	0.18612	N	2.225	0.63025	M	0.86	0.46777	T	-3.91	0.73042	D	0.409	0.44952	-0.8095	0.54581	T	0.208	0.56744	T	10	0.26493722	0.43985	T	0.051683	0.64763	D	0.242	0.54781	.	.	0.623931718627	0.62087	0.6492294018306056	0.64858	0.350602586544	0.36905	0.261113911867	0.05024	T	0.070549	0.33988	T	-0.330088	0.06105	T	-0.343175	0.39986	T	0.479446351528168	0.31877	T	0.683132	0.33655	T	0.37710714	0.59106	0.3637668	0.61757	0.37710714	0.59107	0.3637668	0.61757	-10.622	0.77545	D	.	.	0.134	0.38372	B	.;.	.;.	4.276500	0.65104	24.8	0.99911007033495369	0.98022	0.95921	0.66730	D	AEFGBHI	0.774933	0.70849	D	0.319321398991521	0.57139	3.880376	0.276094213075394	0.54148	3.580617	0.313125495993383	0.19308	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	4.85	0.62375	1.012000	0.29527	3.249000	0.37015	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.146000	0.20164	0.3982:0.6018:0.0:0.0	13.650	0.61781	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	33	chr17	82722842	.	C	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.482;SOR=0.732	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr17	82735638	82735638	T	C	exonic	FN3K	.	startloss	FN3K:NM_022158:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.934256063682	.	.	7.399e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs765794717	1.157e-05	1.368e-05	1.145e-05	1.17e-05	2.743e-05	6.85e-06	5.54e-06	5.92e-06	4.68e-06	0	2.743e-05	0	0	0	0	1.111e-05	3.481e-05	1.276e-05	2.636e-05	2.629e-05	1.288e-05	4.049e-05	0.0002	8.16e-06	5.15e-06	4.89e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.947e-05	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.932	0.51990	P	0.775	0.57058	P	0.000000	0.84330	D	0.040310	1	0.81001	D	.	.	.	0.8	0.48769	T	-4.68	0.79659	D	0.851	0.84713	-0.7998	0.55156	T	0.197	0.55158	T	8	0.98815405	0.99219	D	0.934256	0.99527	D	0.326	0.64826	0.836	0.94356	0.82419745837	0.82253	0.8265045619443577	0.82608	.	.	.	.	.	0.644798	0.89149	D	0.134367	0.67785	D	-0.0244963	0.68733	D	0.996223926544189	0.88912	D	0.9	0.65058	D	0.8799621	0.89663	0.92453414	0.96716	0.8799621	0.89665	0.92453414	0.96716	-6.851	0.52937	T	.	.	.	.	.	.	.	3.771126	0.54171	23.5	0.98936332939658578	0.48845	0.91716	0.54112	D	ALL	0.025032	0.01647	N	0.231814933431725	0.52747	3.446943	0.193357437436437	0.49482	3.150848	0.999999996851096	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.12	4.12	0.47504	3.570000	0.53578	4.572000	0.43884	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:0.0:1.0	10.120	0.41787	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	169.33	33	chr17	82735638	.	T	C	169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=545;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=0.06;SOR=0.802	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,875	18	0	1	0
chr17	82831094	82831094	G	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C1361A:p.A454D	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0219350687293	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758913921	1.094e-05	1.094e-05	8.167e-06	1.375e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.046	0.72224	D	0.996	0.68779	D	0.936	0.67150	D	0.004382	0.33795	N	0.204082	1	0.81001	D	2.415	0.69758	M	2.55	0.13795	T	-2.63	0.56466	D	0.463	0.74007	-1.1292	0.01821	T	0.076	0.30645	T	9	0.35896033	0.52575	T	0.021935	0.44774	T	0.156	0.40720	0.178	0.08503	0.102598925029	0.09809	0.5112865470516449	0.51050	0.948189309248	0.72500	0.414297580719	0.27051	T	0.140418	0.54840	T	-0.204223	0.20197	T	-0.29446	0.45307	T	0.958296239376068	0.65232	D	0.768323	0.39714	T	0.572042	0.71173	0.6609687	0.80135	0.572042	0.71174	0.6609687	0.80136	-5.311	0.40052	T	.	.	0.338	0.64658	B	.;.	.;.	3.110071	0.41948	21.4	0.99666181430123713	0.78266	0.92405	0.55636	D	AEFBI	0.214741	0.34018	N	0.381993864960781	0.60447	4.233652	0.294428342433876	0.55214	3.684603	0.108813057393237	0.16592	0.372202	0.05800	0	0.54472	0.11627	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	4.4	4.4	0.52402	1.593000	0.36297	2.410000	0.32637	0.676000	0.76740	0.976000	0.34826	1.000000	0.68203	0.055000	0.15596	0.0:0.1716:0.8284:0.0	12.250	0.53910	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1421.33	41	chr17	82831094	.	G	T	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.799;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1187	18	0	1	0
chr17	82831139	82831139	G	C	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C1316G:p.S439C	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0325835726139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	2.569e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.021	0.58089	D	0.995	0.67487	D	0.789	0.57669	P	0.357122	0.13726	N	0.673572	1	0.81001	D	2.015	0.55033	M	2.46	0.14907	T	-2.31	0.51319	N	0.241	0.34767	-1.0751	0.08328	T	0.083	0.32440	T	9	0.15318695	0.28920	T	0.032584	0.54372	D	0.102	0.29158	0.212	0.13066	0.0675242888579	0.06100	0.20442819731678002	0.20359	0.579728090572	0.53832	0.240730941296	0.02857	T	0.055407	0.51398	T	-0.226461	0.17120	T	-0.563072	0.16089	T	0.778561592102051	0.44960	D	0.450755	0.12737	T	0.19282895	0.40968	0.25161162	0.50775	0.19282895	0.40968	0.25161162	0.50774	-5.424	0.41150	T	.	.	0.094	0.24666	B	.;.	.;.	1.992815	0.25321	16.72	0.98687242246291662	0.44709	0.50489	0.28674	D	AEFDBI	0.185642	0.31296	N	-0.145444431325318	0.35428	2.034857	-0.348084916943371	0.26569	1.468362	0.952759460508659	0.28034	0.403107	0.06075	0	0.54472	0.11627	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.4	3.42	0.38259	2.282000	0.43122	0.447000	0.18483	0.676000	0.76740	0.045000	0.21207	0.000000	0.08366	0.031000	0.13245	0.0878:0.0:0.9122:0.0	11.740	0.51053	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	41	chr17	82831139	.	G	C	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.1;DP=865;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.144;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1187	18	0	1	0
chr17	82832160	82832160	C	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.G295A:p.D99N	Seborrhea-like dermatitis with psoriasiform elements	0	1508	13	1	0	15	0.00494886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.012004153676	0.0002	0.000599042	0.0006	0	0.0003	0	0.0002	0.0004	0	0.0025	0.0005304	82	154602	rs145679392	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	2.987e-05	0.0003	0.0017	2.519e-05	1.872e-05	0.0019	0.0001	0.0006	0.0021	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.813e-05	0	0.0002	0.0017	0	0	0	0.0003	0.0005	0.0017	0.016	0.51853	D	0.024	0.56640	D	0.391	0.34615	B	0.11	0.31460	B	0.000035	0.55875	D	0.073990	0.999765	0.48888	D	2.25	0.63811	M	1.57	0.29342	T	-2.0	0.46146	N	0.079	0.05414	-1.0742	0.08514	T	0.082	0.32207	T	9	0.008555442	0.00194	T	0.012004	0.30173	T	0.127	0.34888	.	.	0.161926535498	0.15789	0.14063396279171148	0.13986	0.206957076535	0.23130	0.320667743683	0.13523	T	0.035727	0.23831	T	-0.643884	0.00079	T	-0.704147	0.05602	T	0.0493117494132974	0.05379	T	0.723828	0.33737	T	0.088392	0.20617	0.08424884	0.19367	0.088392	0.20617	0.08424884	0.19367	-4.203	0.26795	T	.	.	0.097	0.15609	B	.	.	2.637992	0.34320	19.59	0.9980231792897335	0.88728	0.72798	0.35621	D	AEFDBI	.	.	.	-0.223384111186913	0.32175	1.811803	-0.22497840748812	0.30643	1.727165	0.986496198922188	0.31074	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.86	4.9	0.63643	2.498000	0.45023	2.688000	0.34067	-0.190000	0.09434	0.981000	0.35396	0.993000	0.31925	0.001000	0.02609	0.0:0.9277:0.0:0.0723	14.055	0.64287	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2762.33	41	chr17	82832160	.	C	T	2762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=954;ExcessHet=0;FS=4.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.091;SOR=0.974	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1187	18	0	1	0
chr18	47629	47629	T	C	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A1096G:p.T366A	.	7	1464	51	0	0	51	0.0171198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00757161598229	.	.	4.137e-05	0	0	0	0	4.512e-05	0	0.0001	6.5e-06	1	154602	rs756381274	8.028e-05	0.0009	8.191e-05	7.863e-05	0.0030	6.821e-05	6.374e-05	0.0018	0.0015	0	0.0002	0.0006	0	0	0.0030	5.407e-05	0.0001	0.0001	0.0003	0.0012	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	4.812e-05	0	0.0011	0.0015	0	0	0.0071	0.0003	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000013	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2684	0.75855	T	0.418	0.76408	T	6	0.481885	0.60480	T	0.007572	0.20086	T	0.307	0.62838	.	.	0.567785321435	0.56442	0.10045747927328488	0.09976	.	.	.	.	.	.	.	.	0.0405592	0.57119	T	-0.179516	0.56567	T	0.963563323020935	0.66696	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18289	B	.	.	1.850681	0.23511	16.05	0.74197962344990864	0.10606	0.55312	0.29832	D	AEFBI	0.199548	0.32633	N	-0.404322400526269	0.25317	1.37344	-0.603088665467855	0.19413	1.041451	1.0494678536686E-4	0.05123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.671000	0.67765	4.957000	0.46318	0.345000	0.19837	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	351.33	73	chr18	47629	.	T	C	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.691;DP=1567;ExcessHet=0;FS=17.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.89;MQRankSum=-8.013;QD=2.56;ReadPosRankSum=1.32;SOR=2.258	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1800	18	0	1	0
chr18	48112	48112	C	T	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.G613A:p.E205K	.	1	1514	7	0	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.00159744	0.0026	0.0003	0.0003	0.0001	0	1.548e-05	0	0.0181	5.17e-05	8	154602	rs572018726	0.0001	0.0008	9.402e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0.0002	0	0	0	0.0005	8.094e-06	0.0002	0.0020	4.598e-05	0.0004	5.142e-05	4.03e-05	0.0011	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	0.000009	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4504	0.70387	T	0.301	0.67176	T	6	0.0108805895	0.00240	T	.	.	.	0.308	0.62947	.	.	0.461495907335	0.45776	0.11374722985313494	0.11302	.	.	.	.	.	.	.	.	0.0190336	0.54251	T	-0.210436	0.53654	T	0.20010854591059	0.20422	T	0.981702	0.93821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13362	B	.	.	2.227565	0.28431	17.80	0.96401335620662976	0.29689	0.54131	0.29540	D	AEFBI	0.233300	0.35625	N	-0.40537896516006	0.25280	1.371142	-0.605956594896981	0.19340	1.037168	9.97561248961988E-4	0.08103	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.591000	0.67229	3.916000	0.40440	0.314000	0.19222	1.000000	0.71638	0.999000	0.35428	0.005000	0.06747	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	64.33	141	chr18	48112	.	C	T	64.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=3000;ExcessHet=0;FS=4.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.37;MQRankSum=0.138;QD=0.31;ReadPosRankSum=0.486;SOR=1.185	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr18	48220	48220	T	C	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A505G:p.I169V	.	4	1514	4	0	0	4	0.00131926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	.	0.0031	0.0100	0.0003	0.0002	0	6.242e-05	0	0.0159	6.5e-06	1	154602	rs770734683	0.0001	0.0009	0.0001	0.0001	0.0020	9.779e-05	9.255e-05	0.0016	0.0015	0.0020	8.952e-05	0	0	0	0.0012	9.017e-07	0.0002	0.0009	0.0012	0.0030	0.0013	0.0012	0.0041	0.0011	0.0010	0.0036	0.0034	0.0041	0	0.0003	0	0.0002	0	0	4.41e-05	0.0019	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	0.013178	0.28928	N	0.210163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6597	0.62289	T	0.250	0.62004	T	6	0.008368224	0.00190	T	.	.	.	0.118	0.32913	.	.	0.186928172975	0.18263	0.017705818369474817	0.01725	.	.	.	.	.	.	.	.	-0.231047	0.16510	T	-0.569659	0.15480	T	0.0188464916297485	0.00595	T	0.622938	0.23989	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02428	B	.	.	-1.352301	0.00396	0.008	0.30944494373208264	0.01719	0.03010	0.07880	N	AEFBI	0.033394	0.03951	N	-0.901824552510466	0.10800	0.5178658	-1.09118620051859	0.07872	0.3847297	1.95029489271403E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	2.212000	0.42474	0.790000	0.21560	-2.887000	0.00165	1.000000	0.71638	0.223000	0.23728	0.003000	0.05239	0.0:0.6496:0.0:0.3504	4.690	0.12156	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	214.33	92	chr18	48220	.	T	C	214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.507;DP=1661;ExcessHet=0;FS=5.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.74;MQRankSum=-2.01;QD=1.5;ReadPosRankSum=-0.06;SOR=1.397	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr18	48940	48940	C	G	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon3:c.G277C:p.G93R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.00490425080317	.	.	0.0007	0.0073	0.0002	0	0	9.111e-05	0	0	6.5e-06	1	154602	rs537178211	0.0001	0.0003	0.0001	9.427e-05	0.0005	9.35e-05	8.868e-05	0.0003	0.0003	0.0005	4.489e-05	0	0	7.516e-05	0	0.0001	0.0001	2.336e-05	0.0004	0.0024	0.0004	0.0005	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0003	0	0	9.636e-05	0	4.437e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6553	0.62482	T	0.269	0.64013	T	5	0.04185036	0.02877	T	0.004904	0.12318	T	0.284	0.60219	.	.	0.736965364055	0.73461	0.4643921811040861	0.46358	.	.	.	.	.	.	.	.	0.0127472	0.53399	T	-0.219466	0.52789	T	0.736375331878662	0.42544	D	0.810819	0.46223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.45011	B	.	.	2.806338	0.36928	20.4	0.94358430475407418	0.24714	0.86620	0.45938	D	AEFBI	0.475238	0.51916	N	0.261652359313439	0.54217	3.587921	-0.165101062305241	0.32831	1.871784	9.97561248961988E-4	0.08103	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.590000	0.67223	4.603000	0.44005	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	37.33	34	chr18	48940	.	C	G	37.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=616;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.38;MQRankSum=-4.963;QD=0.93;ReadPosRankSum=0.095;SOR=1.275	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1103	18	0	1	0
chr18	580412	580412	G	A	exonic	CETN1	.	nonsynonymous SNV	CETN1:NM_004066:exon1:c.G4A:p.A2T	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0326777225902	0.0016	0.00159744	0.0035	0.0011	0.0090	0	0.0043	0.0065	0	0.0006	0.0012354	191	154602	rs115842359	0.0030	0.0029	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0033	0.0006	0.0027	3.987e-05	0	0.0007	0.0018	0.0035	0.0034	0.0002	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0004	0	0.0054	0	0	0.0005	0	0.0038	0.0005	0.0002	0.064	0.36509	T	0.08	0.41913	T	0.096	0.25489	B	0.126	0.32692	B	0.000001	0.84330	D	0.000000	0.999996	0.58761	D	1.905	0.50856	L	-0.7	0.72785	T	-1.45	0.35597	N	0.437	0.47580	-0.8104	0.54526	T	0.149	0.47646	T	10	0.0075883865	0.00172	T	0.032678	0.54438	D	0.290	0.60924	.	.	0.572442375005	0.56910	0.7000287511657525	0.69943	0.819317766671	0.67085	0.56910097599	0.48550	T	0.009454	0.08612	T	-0.299897	0.08668	T	-0.201223	0.54529	T	0.0696975188493748	0.08609	T	0.284972	0.05045	T	0.124783285	0.29270	0.1933531	0.42899	0.124783285	0.29269	0.1933531	0.42898	-6.136	0.47403	T	.	.	0.201	0.42433	B	.	.	3.191857	0.43374	21.7	0.99602855104825161	0.74338	0.86949	0.46347	D	AEFDBHCI	0.436707	0.49681	N	-0.119460031352002	0.36546	2.113884	0.0447497648739503	0.41817	2.518783	0.999999999960916	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	8.263000	0.89797	7.988000	0.76101	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.648	0.85039	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001538	0.000000	0.002740	0.000000	0.000000	0.008929	0.003145	0.000000	0.02632	977.33	34	chr18	580412	.	G	A	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.797;DP=677;ExcessHet=0;FS=2.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1173	18	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	663.83	33	chr18	669146	.	A	G	663.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.863;DP=1073;ExcessHet=0.119;FS=142.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.19;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1460:.	17	0	2	0
chr18	694264	694264	G	C	exonic	ENOSF1	.	nonsynonymous SNV	ENOSF1:NM_001354065:exon3:c.C134G:p.A45G,ENOSF1:NM_001354066:exon4:c.C380G:p.A127G,ENOSF1:NM_001354067:exon4:c.C524G:p.A175G,ENOSF1:NM_017512:exon4:c.C380G:p.A127G,ENOSF1:NM_202758:exon4:c.C524G:p.A175G	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00909152895356	.	0.000599042	0.0006	0	0	0	0	0	0	0.0041	0.0004528	70	154602	rs370363817	0.0002	0.0002	8.848e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	2.987e-05	0	0	0	0	0.0002	4.496e-06	0.0002	0.0027	7.88e-05	7.874e-05	2.57e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	6.539e-05	0	0	0	0	0	0	0.0023	0.144	0.25255	T	0.126	0.35205	T	0.083	0.24734	B	0.094	0.30180	B	0.000000	0.84330	N	0.049049	0.999892	0.81001	D	0.435	0.12660	N	1.14	0.54540	T	-2.91	0.60982	D	0.732	0.74280	-0.9327	0.43740	T	0.167	0.50615	T	10	0.025712222	0.00757	T	0.009092	0.23917	T	0.238	0.54217	0.811	0.92719	0.366848117066	0.36290	.	.	0.0157190196081	0.01500	0.576902329922	0.49649	T	0.153345	0.49415	T	-0.245371	0.14671	T	-0.127656	0.61168	T	0.234457294210768	0.22162	T	0.996884	0.98808	D	0.6496469	0.75345	0.5877017	0.76084	0.6496469	0.75346	0.5877017	0.76085	-8.526	0.67058	D	.	.	0.077	0.10062	B	.;.;.;.;.	.;.;.;.;.	3.584328	0.50547	23.0	0.99306910177286778	0.58832	0.98183	0.80324	D	AEFBI	0.885813	0.81665	D	0.154815413817221	0.49041	3.108938	0.336204490098039	0.57681	3.934745	0.999999999998747	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.789000	0.84373	9.458000	0.80857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.420	0.90532	834	0.38640	.;.;Mandelate racemase/muconate lactonizing enzyme, N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	985.33	38	chr18	694264	.	G	C	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=808;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.417;SOR=0.627	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,104,1537	18	0	1	0
chr18	756766	756766	G	A	exonic	YES1	.	nonsynonymous SNV	YES1:NM_005433:exon2:c.C62T:p.T21I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0231117278299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.194	0.28120	T	0.073	0.24078	B	0.015	0.17295	B	0.010838	0.29768	N	0.365001	0.781963	0.29323	N	1.155	0.29575	L	-0.82	0.74053	T	-0.45	0.14782	N	0.488	0.52208	-0.8855	0.49315	T	0.189	0.54005	T	10	0.11974299	0.22666	T	0.023112	0.46051	T	0.080	0.23350	0.123	0.02942	0.652799619513	0.64990	0.306996803715359	0.30612	0.32656759674	0.34803	0.346042335033	0.17338	T	0.104189	0.41352	T	-0.0903062	0.38027	T	-0.367495	0.37182	T	0.0707237952954502	0.08752	T	0.869813	0.57430	D	0.05353366	0.10144	0.04146646	0.04718	0.05353366	0.10144	0.04146646	0.04718	-3.531	0.16869	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	3.002031	0.40112	21.1	0.74099734769287129	0.10570	0.84046	0.43132	D	AEFBI	0.209624	0.33559	N	-0.547674282524739	0.20556	1.084534	-0.470111779524195	0.22982	1.250995	0.962145481235181	0.28602	0.722319	0.85440	0	0.653731	0.59785	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.91	1.87	0.24559	3.159000	0.50430	2.617000	0.33611	0.676000	0.76740	1.000000	0.71638	0.899000	0.27943	0.830000	0.39126	0.1672:0.1427:0.6901:0.0	6.902	0.23471	795	0.45444	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1525.33	41	chr18	756766	.	G	A	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=755;ExcessHet=0;FS=2.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=1.21;SOR=0.51	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1331	18	0	1	0
chr18	2567042	2567042	A	G	exonic	METTL4	.	nonsynonymous SNV	METTL4:NM_001308401:exon2:c.T175C:p.C59R,METTL4:NM_022840:exon2:c.T175C:p.C59R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0044879360085	0.0021	.	0.0019	0.0004	0.0005	0	0.0012	0.0031	0	0	0.001837	284	154602	rs145830021	0.0029	0.0029	0.0030	0.0027	0.0035	0.0028	0.0028	0.0035	0.0034	0.0004	0.0004	3.827e-05	0	0.0012	0.0002	0.0035	0.0022	4.638e-05	0.0019	0.0019	0.0023	0.0014	0.0036	0.0017	0.0016	0.0032	0.0031	0.0008	0	0.0001	0	0	0.0008	0	0.0036	0	0	0.088	0.32296	T	0.08	0.41913	T	0.028	0.19712	B	0.014	0.16862	B	0.115888	0.19215	N	0.516698	0.999984	0.18198	N	0.69	0.16971	N	1.97	0.22067	T	-0.33	0.12472	N	0.207	0.22998	-1.0289	0.20811	T	0.032	0.13767	T	10	0.006624937	0.00150	T	0.004488	0.11031	T	0.006	0.00375	.	.	0.141422826196	0.13715	0.27345654039169726	0.27258	0.174350911685	0.19631	0.272959411144	0.06530	T	0.002087	0.01490	T	-0.622117	0.00107	T	-0.667243	0.07787	T	0.00302511835070444	0.00032	T	0.464354	0.13557	T	0.12165602	0.28604	0.13639775	0.32630	0.12165602	0.28604	0.13639775	0.32630	-3.303	0.13776	T	.	.	0.079	0.08465	B	.;.;.	.;.;.	0.764987	0.11347	7.966	0.73690177164517257	0.10420	0.04471	0.10081	N	AEFBI	0.096725	0.19521	N	-0.967715081906751	0.09300	0.4395359	-0.941327728980476	0.11125	0.5648399	0.999821643100958	0.43622	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.37	2.88	0.32617	0.211000	0.17268	1.828000	0.29093	-0.140000	0.12423	0.001000	0.13787	0.953000	0.29079	0.019000	0.11356	0.8248:0.0:0.1752:0.0	7.557	0.26998	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1089.33	35	chr18	2567042	.	A	G	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.264;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-2.551;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr18	2724932	2724932	A	C	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2637C:p.K879N	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	.	267503	not_provided|Facioscapulohumeral_muscular_dystrophy_2	MedGen:C3661900|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00531876733118	.	.	0.0001	0	0	0	0	0	0	0.0007	5.82e-05	9	154602	rs633422	3.898e-05	4.037e-05	2.073e-05	5.748e-05	0.0006	3.078e-05	2.766e-05	0.0005	0.0004	0	0	0	0	0	0.0002	9.12e-07	3.376e-05	0.0006	3.289e-05	3.281e-05	1.287e-05	5.383e-05	0.0010	1.262e-05	7.99e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.345	0.12511	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	0.000539	0.43581	D	0.228496	0.276525	0.33642	P	1.175	0.29870	L	1.8	0.25344	T	-0.65	0.18877	N	0.04	0.01347	-1.0525	0.13709	T	0.036	0.15509	T	9	0.041606873	0.02831	T	0.005319	0.13618	T	0.099	0.28413	0.106	0.01810	0.0675242888579	0.06100	0.37198345834357094	0.37112	0.248810487176	0.27447	0.414233386517	0.27043	T	0.085981	0.37623	T	-0.507906	0.00516	T	-0.628956	0.10493	T	0.0463770604687509	0.04851	T	0.534647	0.17878	T	0.06948444	0.15226	0.0511201	0.08164	0.06948444	0.15226	0.0511201	0.08164	-4.438	0.30069	T	0.18329944462572986	0.23723	0.203	0.42834	B	.	.	1.836233	0.23329	15.98	0.967477743169877	0.30950	0.84628	0.43712	D	AEFDBI	0.181352	0.30867	N	-0.379396799260766	0.26205	1.428355	-0.209034211198701	0.31209	1.764199	0.996412870538092	0.34729	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	3.1	0.34780	1.035000	0.29824	2.940000	0.35661	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.999000	0.91618	0.7265:0.0:0.1505:0.123	5.757	0.17445	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	10749.7	99	chr18	2724932	.	A	C	10749.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=1138;ExcessHet=2.8258;FS=1.77;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.618;SOR=0.821	GT:AD:DP:GQ:PL	0/0:41,0:80:99:840,963,2009	18	0	1	0
chr18	2796442	2796442	C	T	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.C5914T:p.R1972C	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	436	1085	1	0	0	1	0.000460617	.	.	.	586223	Facioscapulohumeral_muscular_dystrophy_2|not_provided	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901,Orphanet:269|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0117499987485	.	.	0.0001	0	0.0016	0	0	0	0	0.0001	5.82e-05	9	154602	rs778853203	4.757e-05	5.405e-05	4.931e-05	4.58e-05	0.0005	3.823e-05	3.503e-05	0.0003	0.0003	3.008e-05	0.0005	0	5.061e-05	3.776e-05	0	1.627e-05	6.662e-05	0.0002	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.186	0.21467	T	0.131	0.34596	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.9	0.23486	T	-1.7	0.40468	N	0.097	0.07811	-1.0211	0.23357	T	0.023	0.09832	T	9	0.016839355	0.00356	T	0.01175	0.29684	T	0.051	0.14325	0.213	0.13210	0.0675242888579	0.06100	0.17004852058740733	0.16924	0.288162063312	0.31226	0.32230848074	0.13770	T	0.147012	0.48490	T	-0.41677	0.01794	T	-0.471139	0.25392	T	0.0742215646354169	0.09232	T	0.759724	0.38410	T	0.056763623	0.11210	0.047936164	0.07013	0.056763623	0.11210	0.047936164	0.07012	-3.875	0.21928	T	.	.	0.079	0.07130	B	.	.	3.332365	0.45876	22.2	0.90920502253811841	0.20169	0.41248	0.26615	N	AEFDGBHCI	0.123360	0.23893	N	-0.64782484784148	0.17523	0.9024611	-0.500906265009092	0.22130	1.200435	0.929237252053864	0.26960	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.26	0.36471	1.715000	0.37591	2.648000	0.33797	0.580000	0.29708	0.980000	0.35271	0.999000	0.35428	0.953000	0.50222	0.161:0.5968:0.1559:0.0863	4.360	0.10633	568	0.70638	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	33	chr18	2796442	.	C	T	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.503;DP=721;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.9;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr18	2907026	2907026	T	C	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.T2603C:p.V868A	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.00299521	0.0239	0	0	0	.	0	0	0.0288	0.0004851	75	154602	rs376232778	0.0006	0.0008	0.0004	0.0008	0.0164	0.0006	0.0006	0.0154	0.0149	8.465e-05	9.335e-05	0	0.0001	0	0.0010	1.14e-05	0.0012	0.0164	0.0006	0.0006	0.0003	0.0009	0.0188	0.0005	0.0005	0.0157	0.0145	2.409e-05	0	0.0001	0	0	0	0	1.472e-05	0	0.0188	0.324	0.13392	T	0.323	0.18959	T	0.004	0.12183	B	0.004	0.10090	B	0.022941	0.26535	N	0.318625	0.999919	0.51042	D	1.285	0.32305	L	1.67	0.27331	T	-0.89	0.24026	N	0.133	0.12913	-1.0819	0.06984	T	0.043	0.18535	T	10	0.0031603575	0.00053	T	.	.	.	0.035	0.08770	0.178	0.08503	0.171388866994	0.16791	0.11567556026696307	0.11495	0.103024876547	0.11653	0.482304692268	0.36374	T	0.011615	0.10339	T	-0.532242	0.00373	T	-0.524331	0.19857	T	0.0319539789783382	0.02299	T	0.538446	0.18153	T	0.10254853	0.24233	0.048059814	0.07059	0.10254853	0.24233	0.048059814	0.07058	-2.551	0.06139	T	.	.	0.068	0.02927	B	.	.	1.377201	0.17880	13.42	0.51367023056234795	0.04550	0.51833	0.28988	D	ALL	0.239278	0.36126	N	-0.726146657633592	0.15288	0.7692241	-0.627982805172646	0.18775	1.004479	0.999999999999402	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.492483	0.08430	1	.	.	4.6	3.45	0.38602	0.187000	0.16806	1.183000	0.24710	0.591000	0.32079	0.220000	0.24536	1.000000	0.68203	0.004000	0.06068	0.0:0.0928:0.0:0.9072	8.027	0.29601	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	189.35	7	chr18	2907026	.	T	C	189.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=256;ExcessHet=0;FS=0;InbreedingCoeff=-0.0282;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.255;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:42:.:.:0,42,414:.	18	0	1	0
chr18	2913084	2913084	T	C	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon8:c.T2842C:p.Y948H	.	414	1105	3	0	0	3	0.00135563	.	.	.	2757281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	0.00239617	0.0015	9.866e-05	0	0	0	0	0	0.0109	0.0012678	196	154602	rs202238806	0.0007	0.0007	0.0004	0.0010	0.0105	0.0006	0.0006	0.0100	0.0098	2.987e-05	0	0	0	0	0.0002	5.396e-06	0.0008	0.0105	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	2.408e-05	0	0	0	0	0	0	2.942e-05	0	0.0089	0.162	0.23541	T	0.242	0.24264	T	0.998	0.73220	D	0.942	0.67772	D	0.236645	0.15803	N	0.598323	1	0.08975	N	1.39	0.34934	L	3.69	0.04114	T	-1.65	0.39503	N	0.463	0.49965	-1.0138	0.25720	T	0.030	0.12760	T	10	0.009021997	0.00204	T	.	.	.	0.212	0.50341	0.67	0.80803	0.278143212241	0.27437	0.6387599177957377	0.63809	0.516013792325	0.49495	0.500825405121	0.38943	T	0.148729	0.48741	T	-0.459608	0.00989	T	-0.423577	0.30665	T	0.132417980583228	0.15604	T	0.788521	0.42806	T	0.10754393	0.25431	0.09080097	0.21313	0.10754393	0.25430	0.09080097	0.21313	-3.816	0.21044	T	.	.	0.146	0.32178	B	.	.	3.688667	0.52549	23.2	0.99416531135477726	0.63549	0.33323	0.24800	N	AEFDGBCI	0.268447	0.38494	N	-0.0238208150164076	0.40778	2.42757	-0.156980002540766	0.33140	1.892665	0.999999998893449	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.38	5.38	0.77279	2.507000	0.45102	6.118000	0.53749	0.665000	0.62972	0.077000	0.22263	1.000000	0.68203	0.087000	0.17632	0.1408:0.0:0.0:0.8592	10.851	0.45977	867	0.32089	C1q domain|C1q domain|C1q domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	464.33	41	chr18	2913084	.	T	C	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.567;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1094	18	0	1	0
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F,LPIN2:NM_001375809:exon20:c.G2621T:p.C874F,LPIN2:NM_014646:exon20:c.G2621T:p.C874F	Majeed syndrome	0	1481	39	2	0	43	0.0143095	.	.	.	232039	LPIN2-related_disorder|not_provided|Majeed_syndrome|Autoinflammatory_syndrome	.|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	2032.83	37	chr18	2920363	.	C	A	2032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.286;DP=810;ExcessHet=0.119;FS=1.214;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.946;SOR=0.821	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	17	0	2	0
chr18	2925361	2925361	C	T	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon14:c.G1801A:p.E601K,LPIN2:NM_001375809:exon14:c.G1801A:p.E601K,LPIN2:NM_014646:exon14:c.G1801A:p.E601K	Majeed syndrome	0	1461	60	1	0	62	0.0207775	.	.	.	141836	Majeed_syndrome|Autoinflammatory_syndrome|not_specified|not_provided	MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.340	.	0.0089	0.00519169	0.0079	0.0017	0.0095	0	0.0015	0.0115	0.0077	0.0027	0.0079883	1235	154602	rs61735393	0.0092	0.0092	0.0092	0.0092	0.0373	0.0091	0.0090	0.0332	0.0316	0.0023	0.0126	0.0388	7.557e-05	0.0014	0.0373	0.0094	0.0124	0.0033	0.0083	0.0083	0.0084	0.0083	0.0186	0.0079	0.0078	0.0169	0.0162	0.0021	0	0.0186	0.0340	0.0002	0.0009	0.0680	0.0103	0.0161	0.0023	0.132	0.26519	T	0.349	0.17531	T	0.313	0.32852	B	0.085	0.29395	B	0.011447	0.29527	N	0.404126	0.959629	0.38137	D	2.47	0.71715	M	-1.41	0.80560	T	-0.87	0.23590	N	0.545	0.57177	-0.5167	0.68039	T	0.253	0.62315	T	10	0.004709542	0.00099	T	.	.	.	0.340	0.66202	.	.	0.570754169833	0.56741	0.3390941518189898	0.33822	0.269212039865	0.29436	0.510089874268	0.40235	T	0.095085	0.39549	T	-0.373954	0.03399	T	-0.299547	0.44771	T	0.00959506928589877	0.00124	T	0.731327	0.34690	T	0.09177826	0.21514	0.08353188	0.19148	0.09177826	0.21514	0.08353188	0.19148	-2.958	0.09736	T	0.16489837361125692	0.20406	0.082	0.08609	B	.	.	3.024770	0.40500	21.2	0.96984728370843776	0.31875	0.80517	0.40134	D	AEFDGBI	0.202459	0.32904	N	-0.0713840561140771	0.38652	2.267046	-0.00656281212102905	0.39417	2.336846	0.999999637778072	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	3.376000	0.52148	5.844000	0.50275	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.144000	0.20092	0.0:0.9212:0.0:0.0788	13.123	0.58757	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.031408	0.030612	0.033967	0.038235	0.000000	0.060345	0.015432	0.007634	0.02632	1397.33	34	chr18	2925361	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=743;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.074;SOR=0.581	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr18	2926781	2926781	A	G	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon13:c.T1735C:p.S579P,LPIN2:NM_001375809:exon13:c.T1735C:p.S579P,LPIN2:NM_014646:exon13:c.T1735C:p.S579P	Majeed syndrome	0	1508	13	1	0	15	0.00494886	.	.	.	232045	LPIN2-related_disorder|Majeed_syndrome|not_provided|Autoinflammatory_syndrome	.|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.154	0.0625913648545	0.0017	0.000798722	0.0027	0.0002	0.0011	0.0001	0.0013	0.0042	0.0023	0.0012	0.0027231	421	154602	rs150022314	0.0030	0.0031	0.0032	0.0029	0.0036	0.0030	0.0029	0.0035	0.0035	0.0005	0.0013	0.0007	0	0.0014	0.0009	0.0036	0.0022	0.0013	0.0021	0.0021	0.0023	0.0020	0.0041	0.0019	0.0019	0.0037	0.0035	0.0004	0	0.0010	0.0006	0	0.0011	0	0.0041	0.0005	0.0002	0.49	0.07994	T	0.307	0.19908	T	0.155	0.28155	B	0.06	0.26717	B	0.383846	0.13352	N	0.748217	0.708991	0.30032	N	1.63	0.41750	L	-1.46	0.80983	T	0.04	0.06488	N	0.262	0.29659	-0.6596	0.62293	T	0.331	0.69902	T	10	0.0046516657	0.00097	T	0.062591	0.68701	D	0.154	0.40340	.	.	0.643193964233	0.64025	0.2802255546717918	0.27935	0.296124779412	0.31998	0.458477377892	0.33101	T	0.050766	0.28689	T	-0.333935	0.05819	T	-0.25136	0.49682	T	0.00901518552048372	0.00113	T	0.671133	0.27986	T	0.0814418	0.18712	0.11524077	0.27819	0.0814418	0.18712	0.11524077	0.27818	-3.027	0.10475	T	0.16822518049194318	0.21021	0.064	0.01577	B	.	.	1.800045	0.22880	15.80	0.97205228650211106	0.32829	0.30929	0.24208	N	AEFDBI	0.152903	0.27767	N	-0.505954348720314	0.21887	1.164824	-0.432146656834199	0.24059	1.315438	0.999676457045093	0.41644	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.76	4.58	0.56077	1.185000	0.31675	2.749000	0.34521	0.756000	0.94297	0.188000	0.24163	0.971000	0.29754	0.984000	0.60418	0.7813:0.1462:0.0725:0.0	7.346	0.25839	738	0.53389	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1238.33	34	chr18	2926781	.	A	G	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.595;DP=724;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.107;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E,LPIN2:NM_001375809:exon7:c.A1159G:p.K387E,LPIN2:NM_014646:exon7:c.A1159G:p.K387E	Majeed syndrome	0	1479	38	5	0	48	0.0159681	.	.	.	103705	not_specified|Majeed_syndrome|not_provided|Psoriasis|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.005435	0.008772	0.000000	0.017241	0.006098	0.034091	0.02632	537.33	33	chr18	2937701	.	T	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.166;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1341	18	0	1	0
chr18	3188929	3188929	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C590T:p.T197M,MYOM1:NM_019856:exon4:c.C590T:p.T197M	.	428	1058	35	1	0	37	0.0171853	.	.	.	230889	not_specified|Hypertrophic_cardiomyopathy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0006	0.00379393	0.0025	0.0001	0.0005	0	0.0002	0.0011	0.0033	0.0130	0.0021669	335	154602	rs142735495	0.0014	0.0014	0.0010	0.0018	0.0131	0.0014	0.0013	0.0125	0.0122	6.011e-05	0.0006	0.0047	2.519e-05	0.0002	0.0069	0.0006	0.0020	0.0131	0.0010	0.0010	0.0007	0.0012	0.0136	0.0008	0.0008	0.0109	0.0100	9.728e-05	0	0.0013	0.0017	0	0	0.0102	0.0006	0.0029	0.0136	0.251	0.22138	T	0.107	0.38016	T	0.396	0.42471	B	0.055	0.36942	B	0.215705	0.03418	N	2.814250	1	0.08975	N	0	0.06538	N	0.89	0.50976	T	0.51	0.02898	N	0.078	0.10340	-1.0844	0.06517	T	0.043	0.18285	T	10	0.0035447478	0.00064	T	.	.	.	0.021	0.04004	.	.	0.35139820857	0.34749	0.1561886216387074	0.15539	0.143767449936	0.16234	0.231919467449	0.02114	T	0.015219	0.12811	T	-0.648357	0.00074	T	-0.693066	0.06213	T	0.0103052720743745	0.00140	T	0.444256	0.21082	T	0.01401323	0.00077	0.03353223	0.02263	0.013964177	0.00075	0.032004338	0.01871	-8.61	0.65313	D	.	.	0.252	0.52401	B	.;.;.	.;.;.	-0.279013	0.02711	0.355	0.67436098881155082	0.08354	0.00836	0.03355	N	AEFGBI	0.050213	0.08755	N	-1.69927224167309	0.00845	0.03652483	-1.8031923915074	0.00749	0.03338637	0.971880573309902	0.29324	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	2.23	-1.56	0.08080	-1.165000	0.03242	-0.665000	0.07962	-3.406000	0.00088	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3322:0.1804:0.4874:0.0	4.442	0.11002	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.02632	3664.33	49	chr18	3188929	.	G	A	3664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.353;DP=1103;ExcessHet=0;FS=1.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=3.3;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	18	0	1	0
chr18	3729160	3729162	GGT	-	exonic	DLGAP1	.	nonframeshift deletion	DLGAP1:NM_001003809:exon4:c.658_660del:p.T220del,DLGAP1:NM_001242762:exon4:c.700_702del:p.T234del,DLGAP1:NM_001242763:exon4:c.700_702del:p.T234del,DLGAP1:NM_001242764:exon4:c.682_684del:p.T228del,DLGAP1:NM_001242765:exon4:c.658_660del:p.T220del,DLGAP1:NM_001242766:exon4:c.658_660del:p.T220del,DLGAP1:NM_001308390:exon4:c.682_684del:p.T228del,DLGAP1:NM_001242761:exon7:c.1564_1566del:p.T522del,DLGAP1:NM_004746:exon7:c.1564_1566del:p.T522del	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.000798722	0.0004	0	8.973e-05	0	0	0.0003	0	0.0015	0.0003558	55	154602	rs560690735	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	6.715e-05	0	0	3.788e-05	0.0016	0.0002	0.0004	0.0018	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.695e-05	0.0003	0.0002	7.216e-05	0	6.533e-05	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009744	0.000000	0.009589	0.008824	0.000000	0.008621	0.015723	0.011364	0.02632	1387.29	35	chr18	3729159	.	CGGT	C	1387.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=698;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.835;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	18	0	1	0
chr18	5145708	5145708	T	C	exonic	AKAIN1	.	nonsynonymous SNV	AKAIN1:NM_001145194:exon2:c.A64G:p.S22G,AKAIN1:NM_001330553:exon2:c.A85G:p.S29G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0414708525651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.84e-07	0	1.449e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.745435	0.33869	D	.	.	.	.	.	.	-4.0	0.74051	D	0.764	0.77413	0.210	0.86076	D	0.451	0.78503	T	7	0.58763397	0.66200	D	0.041471	0.59942	D	0.368	0.68757	0.165	0.06955	0.139678290688	0.13603	0.20784812355746693	0.20700	.	.	.	.	.	0.215909	0.57792	T	0.361081	0.87336	D	0.280891	0.87171	D	0.985253036022186	0.76303	D	0.771723	0.40231	T	0.6193489	0.73729	0.72949964	0.84017	0.6193489	0.73730	0.72949964	0.84018	-3.7	0.19318	T	.	.	0.584	0.68223	P	.;.	.;.	4.255161	0.64624	24.7	0.9938993812768403	0.62292	0.94542	0.61503	D	AEFIJ	0.664035	0.63335	D	0.669852735885579	0.77659	6.717328	0.672071548485124	0.80263	7.260372	0.997999836182584	0.36288	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	5.428000	0.66226	6.094000	0.53477	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.811	0.78340	938	0.14419	A-kinase anchor protein 7, RI-RII subunit-binding domain;A-kinase anchor protein 7, RI-RII subunit-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	558.33	37	chr18	5145708	.	T	C	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.257;DP=738;ExcessHet=0;FS=4.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=0.382;SOR=1.23	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1392	18	0	1	0
chr18	5397093	5397093	T	C	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A2140G:p.I714V,EPB41L3:NM_001384683:exon15:c.A1813G:p.I605V,EPB41L3:NM_001384693:exon15:c.A2152G:p.I718V,EPB41L3:NM_001384696:exon15:c.A2086G:p.I696V,EPB41L3:NM_001384697:exon15:c.A2140G:p.I714V,EPB41L3:NM_001384686:exon16:c.A2263G:p.I755V,EPB41L3:NM_001384691:exon16:c.A2176G:p.I726V,EPB41L3:NM_001384695:exon16:c.A2176G:p.I726V,EPB41L3:NM_001384699:exon16:c.A1936G:p.I646V,EPB41L3:NM_001384702:exon16:c.A1882G:p.I628V,EPB41L3:NM_001384704:exon16:c.A1849G:p.I617V,EPB41L3:NM_001384706:exon16:c.A1795G:p.I599V,EPB41L3:NM_001281533:exon17:c.A2299G:p.I767V,EPB41L3:NM_001281535:exon17:c.A1813G:p.I605V,EPB41L3:NM_001330557:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384682:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384684:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384687:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384688:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384689:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384690:exon17:c.A2299G:p.I767V,EPB41L3:NM_001384692:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384694:exon17:c.A2245G:p.I749V,EPB41L3:NM_001384698:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384700:exon17:c.A1918G:p.I640V,EPB41L3:NM_001384701:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384703:exon17:c.A1972G:p.I658V,EPB41L3:NM_001384705:exon17:c.A1918G:p.I640V,EPB41L3:NM_001384685:exon18:c.A2860G:p.I954V,EPB41L3:NM_012307:exon18:c.A2806G:p.I936V	.	.	.	.	.	.	.	.	.	.	.	2196649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.001	0.00255636745804	.	.	5.9e-05	0	8.651e-05	0	0	7.605e-05	0	6.744e-05	6.47e-05	10	154602	rs200496501	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0.0003	3.924e-05	0	0	0	0.0001	0.0002	4.718e-05	7.883e-05	7.88e-05	5.138e-05	0.0001	0.0001	4.496e-05	3.511e-05	7.907e-05	5.993e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.569992	0.11248	N	0.787952	1	0.08975	N	-0.715	0.01801	N	1.02	0.40749	T	0.3	0.04161	N	0.033	0.02088	-1.0141	0.25625	T	0.033	0.14117	T	10	0.013540447	0.00287	T	0.002556	0.05121	T	0.001	0.00016	0.14	0.04369	0.107399877778	0.10242	0.17205787976801756	0.17125	0.130589135316	0.14734	0.210323110223	0.00825	T	0.053242	0.29389	T	-0.615526	0.00117	T	-0.81307	0.01597	T	0.00870374006760398	0.00107	T	0.626037	0.24205	T	0.022685722	0.00950	0.023338962	0.00348	0.022685722	0.00949	0.023338962	0.00348	-3.079	0.11056	T	.	.	0.068	0.02894	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.330259	0.00413	0.008	0.22253262884374156	0.00886	0.01013	0.03819	N	AEFBI	0.055865	0.10280	N	-1.649717432571	0.01036	0.04494794	-1.63078233471407	0.01478	0.06689956	0.959934188654888	0.28457	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	-3.99	0.03798	-1.326000	0.02792	-4.767000	0.01995	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0874:0.3845:0.0862:0.4419	4.885	0.13056	771	0.49057	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	959.33	39	chr18	5397093	.	T	C	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=706;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.155;SOR=0.441	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1282	18	0	1	0
chr18	5398076	5398076	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001384686:exon15:c.G1874A:p.R625Q,EPB41L3:NM_001384699:exon15:c.G1547A:p.R516Q,EPB41L3:NM_001384702:exon15:c.G1493A:p.R498Q,EPB41L3:NM_001281533:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001330557:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384682:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384684:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384687:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384688:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384689:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384690:exon16:c.G1910A:p.R637Q,EPB41L3:NM_001384692:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384694:exon16:c.G1856A:p.R619Q,EPB41L3:NM_001384698:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384700:exon16:c.G1529A:p.R510Q,EPB41L3:NM_001384701:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384703:exon16:c.G1583A:p.R528Q,EPB41L3:NM_001384705:exon16:c.G1529A:p.R510Q,EPB41L3:NM_001384685:exon17:c.G2471A:p.R824Q,EPB41L3:NM_012307:exon17:c.G2417A:p.R806Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0314475163041	.	.	8.294e-06	9.798e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs771881652	2.121e-05	2.189e-05	1.497e-05	2.75e-05	8.961e-05	1.52e-05	1.324e-05	2.374e-05	1.304e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	2.248e-05	0	1.159e-05	3.944e-05	3.94e-05	3.855e-05	4.036e-05	0.0001	1.716e-05	1.13e-05	2.262e-05	9.08e-06	4.826e-05	0	0.0001	0	0	9.425e-05	0	1.47e-05	0	0	0.016	0.68238	D	0.387	0.22494	T	1.0	0.90584	D	0.929	0.66367	D	0.004861	0.33331	N	0.352659	0.858508	0.81001	D	2.425	0.70256	M	-1.69	0.82985	D	-0.31	0.27463	N	0.568	0.59138	0.244	0.86638	D	0.651	0.87835	D	10	0.21242198	0.37701	T	0.031448	0.53528	D	0.378	0.69612	0.231	0.15855	0.822711762098	0.82103	0.40038591396138595	0.39953	0.284345644928	0.30857	0.362390398979	0.19734	T	0.130694	0.45975	T	-0.00252329	0.51307	T	-0.0592541	0.66385	T	0.258811801671982	0.23263	T	0.969503	0.89869	D	0.16943707	0.37460	0.16256161	0.37756	0.16943707	0.37459	0.16256161	0.37755	-9.329	0.69789	D	.	.	0.138	0.35477	B	.;.;.;.;.;.	.;.;.;.;.;.	3.898683	0.56773	23.8	0.9994113213372714	0.99797	0.89503	0.50009	D	AEFBI	0.453131	0.50639	N	0.195771090508147	0.50995	3.284501	0.182790964568018	0.48905	3.100254	0.998344194330561	0.36796	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	6.17	4.4	0.52402	3.112000	0.50061	4.006000	0.41118	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.993000	0.69303	0.0:0.8699:0.0:0.1301	12.940	0.57734	765	0.49814	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2670.33	33	chr18	5398076	.	C	T	2670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=802;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=1.33;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1373	18	0	1	0
chr18	5890308	5890308	C	T	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.G1756A:p.E586K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0209041014049	.	.	2.502e-05	0	8.657e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs757308256	8.276e-06	1.094e-05	4.112e-06	1.25e-05	0.0003	4.41e-06	3.49e-06	6.107e-05	2.527e-05	0	2.328e-05	0	0	0	0.0003	3.617e-06	0	6.016e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.331	0.18505	T	0.059	0.23051	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	.	.	.	-0.93	0.24898	N	0.062	0.06720	-1.0347	0.18951	T	0.038	0.16333	T	8	0.049239457	0.04484	T	0.020904	0.43593	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.1350898544850593	0.13432	.	.	0.314002662897	0.12512	T	0.005051	0.04483	T	-0.338221	0.05513	T	-0.538964	0.18397	T	0.102285172075058	0.12607	T	0.477752	0.14377	T	0.058473192	0.11766	0.042080365	0.04932	0.058473192	0.11766	0.042080365	0.04931	-3.651	0.18597	T	.	.	0.072	0.04396	B	.;.	.;.	1.529052	0.19621	14.36	0.94156849285531607	0.24360	0.10582	0.16048	N	AEFDBHCI	0.147955	0.27174	N	-1.09072224248344	0.06813	0.3147165	-1.11937822884006	0.07330	0.3561417	0.999530322463461	0.40238	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	4.41	-0.263	0.12314	-0.173000	0.09844	-0.112000	0.11818	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1214:0.2803:0.4509:0.1475	4.172	0.09795	979	0.04160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2282.33	37	chr18	5890308	.	C	T	2282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=891;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.818;SOR=0.849	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr18	5891054	5891054	C	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.G1010T:p.R337L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00259585	0.0625	.	0	0	.	0	0	0.0676	0.0006468	100	154602	rs577863972	0.0026	0.0021	0.0012	0.0038	0.0245	0.0025	0.0024	0.0232	0.0227	0	0	0	0.0018	0	0.0005	2.846e-05	0.0020	0.0245	0.0010	0.0010	0.0006	0.0014	0.0225	0.0009	0.0008	0.0190	0.0177	0.0003	0	6.561e-05	0	0.0059	0	0	0	0	0.0225	0.008	0.58626	D	0.119	0.36101	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999476	0.21134	N	1.39	0.34934	L	.	.	.	-1.12	0.28906	N	0.062	0.21969	-1.0319	0.19841	T	0.041	0.17530	T	8	0.0026337802	0.00041	T	.	.	.	0.060	0.17295	0.279	0.23323	.	.	0.48039329688838245	0.47959	.	.	0.858114778996	0.90833	D	0.007577	0.06977	T	-0.496872	0.00595	T	-0.437032	0.29140	T	0.0980449051190483	0.12140	T	0.490351	0.15073	T	0.1420179	0.32700	0.15066446	0.35522	0.1420179	0.32699	0.15066446	0.35521	-4.286	0.27980	T	.	.	0.133	0.32685	B	.;.	.;.	2.683634	0.35018	19.78	0.99579120134917298	0.72861	0.45437	0.27538	N	AEFDBCIJ	0.097653	0.19691	N	-0.729800992905297	0.15188	0.7632302	-0.646230869962333	0.18311	0.9776579	0.99995004702617	0.48110	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.0	0.772	0.17655	-0.038000	0.12096	1.402000	0.26205	0.439000	0.21057	0.982000	0.35529	0.370000	0.24564	0.768000	0.36443	0.2463:0.5125:0.2412:0.0	4.838	0.12839	981	0.03995	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012270	0.009091	0.000000	0.000000	0.000000	0.000000	0.000000	0.037500	0.02632	850.33	31	chr18	5891054	.	C	A	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.993;DP=641;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.126;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1105:.	18	0	1	0
chr18	5891055	5891055	G	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.C1009T:p.R337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00259585	0.0595	.	0	0	.	0	0	0.0641	0.0006339	98	154602	rs559244640	0.0026	0.0021	0.0012	0.0038	0.0245	0.0025	0.0024	0.0232	0.0226	0	0	0	0.0018	0	0.0005	3.247e-05	0.0020	0.0245	0.0010	0.0010	0.0006	0.0014	0.0224	0.0009	0.0008	0.0190	0.0177	0.0003	0	6.552e-05	0	0.0059	0	0	0	0	0.0224	0.002	0.72154	D	0.018	0.59732	D	0.984	0.60733	D	0.264	0.39629	B	.	.	.	.	0.999704	0.20638	N	1.39	0.34934	L	.	.	.	-1.55	0.37566	N	0.083	0.24385	-1.0664	0.10223	T	0.033	0.14073	T	8	0.0035555065	0.00064	T	.	.	.	0.068	0.19811	0.267	0.21418	.	.	0.5032516992836831	0.50247	.	.	0.872203469276	0.92883	D	0.00925	0.08431	T	-0.427909	0.01526	T	-0.338759	0.40484	T	0.0734478054094691	0.09127	T	0.615438	0.23533	T	0.14074144	0.32460	0.15966734	0.37227	0.14074144	0.32459	0.15966734	0.37226	-5.799	0.44566	T	.	.	0.180	0.42185	B	.;.	.;.	4.517383	0.70792	25.6	0.99814745942130512	0.89797	0.47169	0.27923	N	AEFDBCIJ	0.296134	0.40606	N	-0.23989432611783	0.31509	1.767463	-0.24919397739901	0.29799	1.672486	0.999977032398014	0.50053	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.0	2.07	0.26004	2.191000	0.42272	5.009000	0.46655	0.491000	0.22372	0.998000	0.41325	1.000000	0.68203	0.778000	0.36829	0.0:0.0:0.7363:0.2637	7.269	0.25419	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007692	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.037500	0.02632	850.33	31	chr18	5891055	.	G	A	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.164;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1105:.	18	0	1	0
chr18	6729915	6729915	C	G	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001366230:exon1:c.C94G:p.R32G,ARHGAP28:NM_001366231:exon1:c.C94G:p.R32G	.	410	1091	20	1	0	22	0.00998185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.000599042	0.0035	0	0	0	.	0.0104	0	0.0021	0.0002135	33	154602	rs534903406	0.0009	0.0009	0.0009	0.0010	0.0152	0.0009	0.0009	0.0120	0.0108	0.0006	0.0021	0.0076	3.643e-05	0	0.0152	0.0007	0.0021	0.0008	0.0012	0.0012	0.0013	0.0012	0.0033	0.0011	0.0010	0.0026	0.0023	0.0003	0	0.0033	0.0095	0.0002	0	0.0205	0.0012	0.0033	0.0002	.	.	.	0.262	0.22895	T	.	.	.	.	.	.	.	.	.	.	0.990449	0.24170	N	0	0.06538	N	3.23	0.06931	T	.	.	.	0.208	0.23125	-1.1103	0.03044	T	0.032	0.13767	T	6	0.0059042573	0.00132	T	.	.	.	.	.	.	.	0.36453787251	0.36064	.	.	.	.	.	.	.	0.004606	0.04008	T	-0.501887	0.00558	T	-0.539254	0.18370	T	0.201755300164223	0.20512	T	0.538946	0.18179	T	0.15021877	0.34208	0.20427191	0.44543	0.15021877	0.34208	0.20427191	0.44542	-3.175	0.12177	T	.	.	0.134	0.29172	B	.	.	3.032434	0.40627	21.2	0.99172381963764689	0.54441	0.24333	0.22361	N	ALL	0.095873	0.19364	N	0.0750600097214143	0.45300	2.788953	0.0905123175035551	0.44071	2.695909	0.99999999999602	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.54	2.64	0.30504	2.434000	0.44460	2.015000	0.30182	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1417:0.4736:0.3847:0.0	6.782	0.22835	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	415.33	35	chr18	6729915	.	C	G	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=717;ExcessHet=0;FS=4.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.707;SOR=1.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1164	18	0	1	0
chr18	6890539	6890539	G	T	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1367T:p.R456L,ARHGAP28:NM_001366230:exon14:c.G1844T:p.R615L,ARHGAP28:NM_001366231:exon14:c.G1844T:p.R615L	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0013	0.00878594	0.0063	0.0004	0.0013	0.0189	0	0.0015	0.0012	0.0324	0.0053816	832	154602	rs74414891	0.0033	0.0034	0.0026	0.0041	0.0255	0.0032	0.0032	0.0246	0.0243	0.0004	0.0010	0.0038	0.0199	5.637e-05	0.0139	0.0013	0.0038	0.0255	0.0024	0.0024	0.0021	0.0026	0.0249	0.0022	0.0021	0.0213	0.0199	0.0004	0	0.0015	0.0035	0.0168	0	0.0068	0.0014	0.0014	0.0249	0.002	0.72154	D	0.009	0.74150	D	1.0	0.90584	D	0.977	0.80445	D	0.001276	0.39594	N	0.254470	0.999999	0.81001	D	2.845	0.82663	M	3.18	0.10482	T	-4.25	0.81910	D	0.603	0.65501	-1.0987	0.04252	T	0.094	0.35551	T	10	0.0055380464	0.00122	T	.	.	.	0.263	0.57612	.	.	0.511220899679	0.50763	0.4944415560464715	0.49365	0.768272729556	0.64638	0.456587791443	0.32844	T	0.198741	0.55581	T	-0.144411	0.29190	T	0.0393842	0.72888	D	0.0497714532028	0.05461	T	0.881612	0.60617	D	0.25142154	0.48151	0.20026965	0.43949	0.25142154	0.48150	0.20026965	0.43948	-5.582	0.47166	T	.	.	0.369	0.60693	A	.;.;.;.;.;.	.;.;.;.;.;.	4.280408	0.65203	24.8	0.99800484344759965	0.88550	0.92405	0.55636	D	AEFBI	0.458825	0.50969	N	0.597714771600917	0.73030	5.900242	0.510549642992938	0.68698	5.256236	0.999965057537545	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.878000	0.62786	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	17.769	0.88395	776	0.48302	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1060.33	35	chr18	6890539	.	G	T	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.021;DP=766;ExcessHet=0;FS=2.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-0.17;SOR=0.377	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr18	6965342	6965342	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.C7141T:p.R2381C	Poretti-Boltshauser syndrome, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	704663	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.479	0.0417537146561	0.0012	0.00279553	0.0024	0.0004	0.0009	0	0	0.0023	0.0044	0.0075	0.0024838	384	154602	rs142063208	0.0028	0.0028	0.0026	0.0030	0.0082	0.0027	0.0027	0.0077	0.0075	0.0005	0.0010	7.652e-05	5.038e-05	0.0004	0.0033	0.0028	0.0023	0.0082	0.0017	0.0017	0.0017	0.0016	0.0070	0.0015	0.0015	0.0052	0.0045	0.0006	0	0.0020	0	0.0002	0.0005	0	0.0023	0.0024	0.0070	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.000251	0.46924	D	0.144445	0.999987	0.54805	D	3.235	0.89610	M	-1.08	0.77078	T	-5.51	0.85921	D	0.734	0.73465	0.264	0.86976	D	0.603	0.85894	D	10	0.016408682	0.00346	T	0.041754	0.60099	D	0.479	0.77012	.	.	0.895094079211	0.89405	0.5673563880096925	0.56663	0.61600168912	0.56077	0.489292055368	0.37339	T	0.531587	0.83800	D	-0.115198	0.33911	T	0.067018	0.74711	D	0.128730265391643	0.15264	T	0.854814	0.54193	D	0.34251603	0.56479	0.45183823	0.68109	0.28303096	0.51337	0.4219648	0.66113	-11.508	0.82372	D	0.7391288558217808	0.82112	0.306	0.53495	B	.	.	5.264119	0.88388	29.6	0.99940578074191	0.99767	0.94786	0.62325	D	AEFBI	0.765320	0.70184	D	0.859237228385765	0.89628	10.05011	0.83897627390301	0.92355	11.37934	0.999998149110575	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.366000	0.59265	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.879	0.99870	865	0.32612	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	3045.83	33	chr18	6965342	.	G	A	3045.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=897;ExcessHet=0.119;FS=1.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.317;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	17	0	2	0
chr18	6986346	6986346	C	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5170T:p.A1724S	Poretti-Boltshauser syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9789	0.772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00789610727358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.229	0.25210	T	0.851	0.46962	P	0.507	0.47859	P	0.000179	0.48594	D	0.142430	0.997087	0.43619	D	2.535	0.73915	M	2.73	0.11839	T	-2.03	0.46673	N	0.174	0.18649	-1.1167	0.02552	T	0.055	0.23186	T	10	0.30065727	0.47612	T	0.007896	0.20955	T	0.193	0.47281	0.624	0.75916	0.294561560033	0.29076	0.11219068982774721	0.11148	0.343823149758	0.36306	0.369797110558	0.20803	T	0.037119	0.24357	T	-0.114273	0.34065	T	-0.401922	0.33161	T	0.759025783697775	0.43796	D	0.689731	0.29897	T	0.095100835	0.22375	0.16433366	0.38074	0.095100835	0.22375	0.16433366	0.38073	-4.817	0.34789	T	0.2679458680316155	0.36092	0.124	0.25946	B	.	.	3.757419	0.53892	23.4	0.99706873301015986	0.81074	0.97536	0.75390	D	AEFBI	0.516904	0.54325	D	0.347501104445339	0.58608	4.034056	0.403818055354086	0.61800	4.385578	0.999629276494651	0.41093	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	2.828000	0.47822	3.406000	0.38159	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	20.059	0.97662	861	0.33516	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.33	68	chr18	6986346	.	C	A	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=736;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.658;SOR=0.906	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr18	7037642	7037642	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.C1673T:p.A558V	Poretti-Boltshauser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727799	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00297339597076	0.0045	0.00179712	0.0037	0.0020	0.0020	0	0.0008	0.0058	0.0022	0.0006	0.0040814	631	154602	rs143997842	0.0060	0.0060	0.0062	0.0059	0.0073	0.0059	0.0059	0.0072	0.0071	0.0017	0.0021	0.0012	0	0.0023	0.0009	0.0073	0.0056	0.0008	0.0034	0.0034	0.0039	0.0029	0.0058	0.0032	0.0031	0.0053	0.0051	0.0019	0	0.0012	0.0017	0	0.0008	0	0.0058	0.0028	0.0015	0.263	0.16412	T	0.285	0.21343	T	0.004	0.12183	B	0.002	0.06944	B	0.678899	0.06080	N	1.187530	1	0.08975	N	0.6	0.15550	N	2.18	0.18875	T	-1.2	0.30555	N	0.06	0.03175	-0.9808	0.34817	T	0.011	0.04274	T	10	0.0038349926	0.00072	T	0.002973	0.06339	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.2621892590172665	0.26131	0.107730605471	0.12152	0.244025737047	0.03165	T	0.046069	0.27314	T	-0.698991	0.00037	T	-0.770289	0.02758	T	0.0013587098851226	0.00014	T	0.485151	0.14792	T	0.019163352	0.00443	0.040829208	0.04502	0.019163352	0.00442	0.040829208	0.04502	-2.921	0.09355	T	.	.	0.072	0.04396	B	.	.	-0.032086	0.04066	0.946	0.94307563734160238	0.24622	0.04224	0.09741	N	AEFBI	0.062944	0.12132	N	-1.28727501896598	0.03828	0.1716946	-1.34773399438146	0.03833	0.1795877	0.999996033034349	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.53	-6.03	0.02001	-1.850000	0.01763	-1.961000	0.04429	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.383:0.0:0.2252:0.3918	5.922	0.18327	900	0.24599	Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2086.33	36	chr18	7037642	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.759;DP=823;ExcessHet=0;FS=4.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.371;SOR=0.429	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr18	7231883	7231883	A	G	exonic	LRRC30	.	nonsynonymous SNV	LRRC30:NM_001105581:exon1:c.A745G:p.S249G	.	431	1046	43	2	0	47	0.0219729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00605197570349	0.0044	0.00239617	0.0049	0.0010	0.0042	0.0001	0.0005	0.0058	0.0089	0.0081	0.0047671	737	154602	rs144753731	0.0056	0.0056	0.0054	0.0058	0.0158	0.0055	0.0055	0.0132	0.0122	0.0007	0.0046	0.0108	0	0.0005	0.0158	0.0059	0.0062	0.0078	0.0043	0.0043	0.0044	0.0042	0.0073	0.0040	0.0039	0.0062	0.0058	0.0010	0	0.0073	0.0127	0	0.0002	0.0306	0.0059	0.0076	0.0067	0.339	0.12754	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.624241	0.10748	N	0.851984	1	0.08975	N	0.55	0.14455	N	1.8	0.25344	T	-1.51	0.36787	N	0.189	0.20660	-0.9943	0.31485	T	0.029	0.12629	T	10	0.0066648424	0.00151	T	0.006052	0.15816	T	0.067	0.19503	.	.	0.187945064343	0.18414	0.1451803871935659	0.14441	0.0569548128432	0.06297	0.265670597553	0.05585	T	0.025623	0.19125	T	-0.686587	0.00044	T	-0.751762	0.03417	T	0.00909780993611221	0.00114	T	0.357364	0.08134	T	0.0578047	0.11550	0.06349847	0.12585	0.0578047	0.11549	0.06349847	0.12585	-5.375	0.40678	T	.	.	0.057	0.00524	B	.	.	0.762737	0.11325	7.946	0.83079038511904924	0.14531	0.01811	0.05641	N	AEFDBI	0.019787	0.00720	N	-0.820921435434659	0.12776	0.6249684	-0.740160181653627	0.15964	0.8422334	9.40402177696361E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	3.04	0.34171	3.211000	0.50839	4.388000	0.43204	-0.758000	0.03527	0.933000	0.32380	1.000000	0.68203	0.012000	0.09680	0.1416:0.1348:0.7236:0.0	8.463	0.32097	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.005848	0.050000	0.025862	0.024390	0.011364	0.02632	2452.33	35	chr18	7231883	.	A	G	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.212;DP=821;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.984;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	18	0	1	0
chr18	8705698	8705698	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon1:c.C38T:p.P13L,MTCL1:NM_001378206:exon1:c.C38T:p.P13L,MTCL1:NM_001378207:exon1:c.C38T:p.P13L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0289563055501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.901e-06	6.157e-06	1.801e-06	2.013e-06	0.0003	3.2e-07	1.2e-07	.	.	0	0	0	0	0	0.0003	1.11e-06	0	0	6.69e-06	6.574e-06	1.305e-05	0	2.426e-05	0	0	.	.	2.426e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.990101	0.24214	N	1.245	0.31408	L	2.53	0.14038	T	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.085915774	0.14551	T	0.028956	0.51551	D	.	.	.	.	0.366085729538	0.36220	.	.	.	.	.	.	.	0.029215	0.20984	T	-0.255527	0.13429	T	-0.604824	0.12408	T	.	.	.	0.478252	0.14398	T	0.07905559	0.18039	0.17689045	0.40254	0.07905559	0.18039	0.17689045	0.40253	-4.363	0.29051	T	.	.	0.108	0.20391	B	.	.	2.082527	0.26487	17.13	0.97416563048135385	0.33850	0.03021	0.07899	N	ALL	0.033856	0.04091	N	.	.	.	.	.	.	0.99999997603466	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.492483	0.08430	1	.	.	2.77	0.735	0.17449	-0.765000	0.04836	0.747000	0.21206	0.399000	0.20540	0.000000	0.06391	0.027000	0.21108	0.321000	0.24994	0.2074:0.6652:0.0:0.1274	5.043	0.13808	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	460.33	53	chr18	8705698	.	C	T	460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.014;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,996:.	18	0	1	0
chr18	8784191	8784191	A	G	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon5:c.A2159G:p.H720R,MTCL1:NM_001378206:exon5:c.A2159G:p.H720R,MTCL1:NM_001378207:exon5:c.A2159G:p.H720R,MTCL1:NM_015210:exon6:c.A1079G:p.H360R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.01143213123	.	0.000199681	0.0002	0	0	0	0	1.543e-05	0	0.0016	0.0001811	28	154602	rs568446394	7.732e-05	7.73e-05	4.493e-05	0.0001	0.0012	6.534e-05	6.137e-05	0.0010	0.0009	0	0	0	0	0	0.0002	3.597e-06	9.937e-05	0.0012	3.284e-05	3.281e-05	1.285e-05	5.374e-05	0.0006	1.26e-05	7.98e-06	0.0002	9e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.016013	0.28092	N	0.177298	1	0.81001	D	-3.045	0.00012	N	3.42	0.06368	T	3.59	0.00080	N	0.22	0.24634	-0.9277	0.44473	T	0.004	0.01159	T	10	0.009334922	0.00211	T	0.011432	0.29047	T	0.100	0.28662	0.428	0.47515	0.0482279557977	0.04254	0.3406265099078599	0.33975	0.117119508686	0.13201	0.258581846952	0.04723	T	0.070047	0.33862	T	-0.571553	0.00217	T	-0.639325	0.09718	T	0.015206512687137	0.00333	T	0.747625	0.36808	T	0.0625126	0.13064	0.116006725	0.28004	0.0625126	0.13064	0.116006725	0.28003	4.527	0.00008	T	.	.	0.062	0.02228	B	.;.;.;.	.;.;.;.	0.742435	0.11117	7.764	0.85822937152644319	0.16134	0.24810	0.22508	N	AEFDBCI	0.069183	0.13683	N	-0.945508976244728	0.09794	0.4651016	-0.606525355728503	0.19325	1.036318	0.999999979041528	0.74766	0.631981	0.41245	0	0.59043	0.45803	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.37	4.49	0.54177	4.144000	0.57825	4.431000	0.43351	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0781:0.0:0.9219:0.0	13.314	0.59832	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	93	chr18	8784191	.	A	G	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.311;DP=1465;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.734;SOR=0.598	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	18	0	1	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H,MTCL1:NM_001378206:exon6:c.G2909A:p.R970H,MTCL1:NM_001378207:exon6:c.G2909A:p.R970H,MTCL1:NM_015210:exon7:c.G1829A:p.R610H	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.040692	0.032967	0.038147	0.062130	0.000000	0.060345	0.024540	0.030534	0.05263	1424.83	28	chr18	8786033	.	G	A	1424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.36;DP=724;ExcessHet=0.119;FS=0.749;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.876;SOR=0.835	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	17	0	2	0
chr18	8825205	8825205	A	C	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.A4652C:p.E1551A,MTCL1:NM_001378207:exon13:c.A4652C:p.E1551A,MTCL1:NM_001378206:exon14:c.A4775C:p.E1592A,MTCL1:NM_015210:exon15:c.A3695C:p.E1232A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0126652999134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.658e-06	0.0013	5.528e-06	9.819e-06	1.002e-05	4.11e-06	3e-06	5.37e-06	3.93e-06	0	0	0	0	0	0	1.002e-05	0	0	1.972e-05	0.0004	3.859e-05	0	6.538e-05	5.24e-06	2.45e-06	.	.	2.407e-05	0	6.538e-05	0	0	0	0	1.472e-05	0	0	0.1	0.30515	T	0.021	0.67890	D	0.95	0.53885	P	0.469	0.46748	P	0.000273	0.46590	D	0.000000	0.935585	0.39389	D	2.33	0.66821	M	2.1	0.38718	T	-3.43	0.67359	D	0.323	0.43126	-0.8178	0.54071	T	0.137	0.45337	T	10	0.3475388	0.51686	T	0.012665	0.31427	T	0.235	0.53788	.	.	0.433713641954	0.42991	0.13180484306900944	0.13105	0.357429898638	0.37461	0.446914613247	0.31523	T	0.231436	0.59775	T	0.0545536	0.58926	T	-0.159414	0.58405	T	0.91475123167038	0.57152	D	0.844715	0.52235	T	0.10809364	0.25559	0.08981	0.21025	0.10809364	0.25558	0.08981	0.21024	-2.727	0.07663	T	.	.	0.130	0.27939	B	.;.;.;.;.	.;.;.;.;.	2.735056	0.35810	20.0	0.98299094257539466	0.40030	0.94633	0.61805	D	AEFDBCI	0.705809	0.66107	D	0.220221574234827	0.52180	3.393834	0.16395926165037	0.47887	3.012217	0.999999994384731	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.102000	0.76653	8.711000	0.78136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	1.0:0.0:0.0:0.0	13.311	0.59820	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	43.33	47	chr18	8825205	.	A	C	43.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.432;DP=1237;ExcessHet=0;FS=55.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.474;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:99:.:.:0,120,1800:.	18	0	1	0
chr18	8825273	8825273	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378207:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378206:exon14:c.C4843T:p.R1615C,MTCL1:NM_015210:exon15:c.C3763T:p.R1255C	.	426	1064	30	2	0	34	0.0157262	.	.	.	727831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0018	0.00319489	0.0025	0.0026	0.0015	0	0	0.0013	0.0064	0.0148	0.0024385	377	154602	rs115783507	0.0017	0.0018	0.0013	0.0021	0.0150	0.0016	0.0016	0.0142	0.0140	0.0024	0.0013	0.0066	0	0.0002	0.0093	0.0007	0.0026	0.0150	0.0019	0.0019	0.0017	0.0021	0.0139	0.0017	0.0016	0.0112	0.0102	0.0026	0	0.0014	0.0032	0	0	0.0034	0.0010	0.0033	0.0139	0.231	0.18246	T	0.058	0.48336	T	0.04	0.21238	B	0.006	0.12133	B	0.808809	0.09266	N	0.896444	1	0.08975	N	1.12	0.28775	L	2.46	0.32238	T	-2.34	0.51811	N	0.121	0.17828	-0.9916	0.32193	T	0.058	0.24279	T	10	0.006587088	0.00149	T	.	.	.	0.058	0.16647	.	.	0.433269665224	0.42948	0.12311606395852297	0.12237	0.132553004888	0.14941	0.273410499096	0.06589	T	0.065638	0.32740	T	-0.542483	0.00324	T	-0.54034	0.18263	T	0.0187244205625075	0.00585	T	0.783822	0.42110	T	0.0751708	0.16919	0.030532356	0.01521	0.0751708	0.16918	0.030532356	0.01521	-5.308	0.40022	T	.	.	0.084	0.09723	B	.;.;.;.;.	.;.;.;.;.	1.482506	0.19084	14.08	0.6408629089340887	0.07398	0.72841	0.35641	D	AEFDBCI	0.292055	0.40303	N	-0.607389848959107	0.18722	0.9742389	-0.630697175372214	0.18706	1.000479	0.999981598357496	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.04	-0.226	0.12460	2.502000	0.45058	-0.736000	0.07640	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.028000	0.12845	0.1211:0.5581:0.1173:0.2035	3.262	0.06447	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.011364	0.05263	3888.83	150	chr18	8825273	.	C	T	3888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1418;ExcessHet=0.119;FS=7.264;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.068;SOR=0.504	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	17	0	2	0
chr18	8825858	8825858	A	G	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.A5305G:p.I1769V,MTCL1:NM_001378207:exon13:c.A5305G:p.I1769V,MTCL1:NM_001378206:exon14:c.A5428G:p.I1810V,MTCL1:NM_015210:exon15:c.A4348G:p.I1450V	.	419	1094	9	0	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0029	0.013778	0.0073	0.0096	0.0316	0.0090	0	0.0004	0.0067	0.0189	0.0065588	1014	154602	rs114538532	0.0028	0.0028	0.0026	0.0030	0.0227	0.0027	0.0027	0.0215	0.0210	0.0121	0.0227	0	0.0135	1.872e-05	0.0023	0.0004	0.0032	0.0168	0.0048	0.0048	0.0047	0.0048	0.0182	0.0045	0.0044	0.0152	0.0140	0.0102	0	0.0072	0	0.0116	0	0	0.0005	0.0047	0.0182	0.895	0.02544	T	0.88	0.18340	T	0.999	0.77913	D	0.995	0.83170	D	0.018102	0.27560	N	0.258863	0.989554	0.41182	D	1.445	0.36358	L	1.05	0.39990	T	-0.21	0.10308	N	0.326	0.59308	-0.9056	0.47378	T	0.067	0.27537	T	10	0.009405106	0.00212	T	.	.	.	0.159	0.41286	.	.	0.411932830014	0.40813	0.18300381405324703	0.18219	0.119995550461	0.13513	0.584527075291	0.50723	T	0.056454	0.30292	T	-0.434518	0.01393	T	-0.377335	0.36033	T	0.0523804684983478	0.05913	T	0.884012	0.65351	D	0.023048159	0.01012	0.07058721	0.15015	0.023048159	0.01012	0.07058721	0.15015	-3.928	0.25936	T	.	.	0.234	0.53510	B	.;.;.;.;.	.;.;.;.;.	3.078410	0.41403	21.3	0.78542251170157373	0.12346	0.86358	0.45622	D	AEFDGBCI	0.579480	0.58027	D	0.172026826715289	0.49859	3.181739	0.184851319490432	0.49018	3.110064	0.999999942480612	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.55	3.13	0.35090	5.346000	0.65762	8.140000	0.76681	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8009:0.0:0.07:0.129	7.354	0.25879	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1528.33	119	chr18	8825858	.	A	G	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.931;DP=1265;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.924;SOR=0.711	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	18	0	1	0
chr18	9255083	9255083	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A1747G:p.S583G,ANKRD12:NM_001204056:exon8:c.A1747G:p.S583G,ANKRD12:NM_015208:exon9:c.A1816G:p.S606G	.	444	1063	15	0	0	15	0.00700607	.	.	.	2818199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0006	0.00279553	0.0023	0	0.0007	0.0001	0	0.0016	0.0045	0.0096	0.002031	314	154602	rs141484109	0.0014	0.0014	0.0012	0.0017	0.0094	0.0014	0.0013	0.0088	0.0086	0.0001	0.0017	0.0122	2.549e-05	0.0002	0.0068	0.0007	0.0021	0.0094	0.0014	0.0014	0.0012	0.0016	0.0103	0.0012	0.0012	0.0081	0.0072	0.0001	0	0.0020	0.0139	0.0002	0	0.0034	0.0010	0.0028	0.0103	0.007	0.59928	D	0.122	0.35710	T	0.089	0.27697	B	0.049	0.31211	B	0.001220	0.39820	N	0.326549	0.999434	0.47043	D	2.045	0.56016	M	-3.05	0.92407	D	-2.17	0.49018	N	0.134	0.13055	0.283	0.87291	D	0.634	0.87175	D	10	0.006050378	0.00136	T	.	.	.	0.319	0.64112	.	.	0.850899483868	0.84947	0.008447744694275186	0.00808	.	.	0.323494970798	0.13951	T	0.118752	0.43978	T	-0.306687	0.08043	T	-0.206347	0.54044	T	0.0571900189164121	0.06720	T	0.889911	0.62289	D	0.11995505	0.28234	0.1270894	0.30598	0.11995505	0.28234	0.1270894	0.30598	-4.784	0.34452	T	.	.	0.080	0.07841	B	.;.	.;.	3.532567	0.49572	22.8	0.98680219501910782	0.44610	0.99222	0.93031	D	AEFGBI	0.831702	0.75020	D	0.163747247752914	0.49465	3.146559	0.289998215535079	0.54953	3.65911	0.999996349590426	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.7	4.55	0.55429	7.165000	0.77109	9.161000	0.78990	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.9281:0.0:0.0719:0.0	11.108	0.47436	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005045	0.000000	0.002717	0.002924	0.100000	0.000000	0.003067	0.015152	0.02632	1514.33	40	chr18	9255083	.	A	G	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=774;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.502;SOR=0.83	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1217	18	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.02632	394.33	33	chr18	9255473	.	A	G	394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=700;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.561;SOR=0.845	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1308	18	0	1	0
chr18	9570163	9570163	C	T	exonic	PPP4R1	.	nonsynonymous SNV	PPP4R1:NM_001382562:exon10:c.G1300A:p.V434I,PPP4R1:NM_001042388:exon11:c.G1567A:p.V523I,PPP4R1:NM_005134:exon11:c.G1516A:p.V506I	.	433	1085	4	0	0	4	0.00183993	.	.	.	2352101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.012943829975	0.0010	0.000199681	0.0007	0.0005	0.0003	0	0.0002	0.0010	0.0013	0.0005	0.0007244	112	154602	rs199807748	0.0013	0.0013	0.0014	0.0012	0.0016	0.0013	0.0012	0.0015	0.0015	0.0004	0.0005	0	2.622e-05	1.991e-05	0.0011	0.0016	0.0012	0.0004	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0011	0.0011	0.0004	0	0.0007	0	0	0.0002	0	0.0014	0.0009	0.0002	0.124	0.27426	T	0.158	0.31833	T	0.942	0.56202	P	0.463	0.52930	P	0.001561	0.38671	N	0.179845	0.998965	0.45775	D	2.4	0.69460	M	2.22	0.18248	T	-0.51	0.15986	N	0.489	0.52297	-1.0402	0.17253	T	0.099	0.36830	T	9	0.05205235	0.05179	T	0.012944	0.31944	T	0.103	0.29403	.	.	0.29966067498	0.29572	0.26850734077385996	0.26763	0.694655474682	0.60776	0.590433239937	0.51555	T	0.009366	0.08534	T	-0.43173	0.01447	T	-0.40019	0.33362	T	0.0472367207268136	0.05007	T	0.868113	0.56980	D	0.0589351	0.11918	0.07044444	0.14969	0.0589351	0.11917	0.07044444	0.14969	-8.82	0.66531	D	.	.	0.085	0.33687	B	.;.	.;.	4.586025	0.72498	25.8	0.9983274852128341	0.91456	0.98609	0.84658	D	AEFBI	0.603347	0.59486	D	0.645679883486785	0.76088	6.42267	0.662417558918015	0.79539	7.103726	0.999999999934371	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.756000	0.68414	7.673000	0.64890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.597	0.95541	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1265.33	34	chr18	9570163	.	C	T	1265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=720;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.13;SOR=1.093	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,169:460:99:.:.:14503,8023,10268:.	6	3	10	0
chr18	10540396	10540396	G	A	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G503A:p.R168H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0696154579722	0.0003	0.000998403	0.0009	0.0002	0.0014	0	0	0.0013	0.0034	0.0002	0.0008344	129	154602	rs143915056	0.0008	0.0008	0.0007	0.0008	0.0066	0.0007	0.0007	0.0049	0.0044	0.0006	0.0011	0.0106	0	5.65e-05	0.0066	0.0006	0.0014	0.0003	0.0006	0.0006	0.0007	0.0004	0.0007	0.0005	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0089	0	0	0	0.0005	0.0009	0.0004	0.036	0.43393	D	0.106	0.37872	T	0.983	0.60381	D	0.497	0.47562	P	0.000017	0.62929	D	0.187435	0.999999	0.58761	D	1.935	0.51832	L	-1.01	0.76168	T	-1.67	0.39887	N	0.423	0.46274	-0.2243	0.77037	T	0.422	0.76704	T	10	0.010468781	0.00233	T	0.069615	0.70777	D	0.240	0.54500	.	.	0.882464406444	0.88130	0.5444775080861449	0.54373	0.432589321171	0.43428	0.701806128025	0.67405	T	0.045664	0.27191	T	-0.241383	0.15173	T	-0.165058	0.57895	T	0.0822120010852814	0.10268	T	0.948405	0.80130	D	0.05393279	0.10277	0.076638035	0.16992	0.05393279	0.10276	0.076638035	0.16992	-6.379	0.49345	T	.	.	0.086	0.10787	B	.	.	4.296700	0.65572	24.8	0.99949895232128616	0.99938	0.97678	0.76352	D	AEFBI	0.671893	0.63848	D	0.602898797869393	0.73357	5.95301	0.671260098904856	0.80201	7.246884	0.999999952243803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.700000	0.67974	7.465000	0.59093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	20.404	0.99007	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.020468	0.000000	0.008621	0.006098	0.000000	0.02632	781.33	34	chr18	10540396	.	G	A	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.116;DP=699;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.037;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1143	18	0	1	0
chr18	10550156	10550156	C	T	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon12:c.C875T:p.P292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0141104146513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.333	0.18395	T	0.009	0.15093	B	0.006	0.12133	B	0.764526	0.06560	N	1.096950	1	0.08975	N	0.69	0.16971	N	1.92	0.23082	T	-1.84	0.43149	N	0.14	0.13911	-0.9890	0.32853	T	0.058	0.24502	T	10	0.05089584	0.04889	T	0.01411	0.34004	T	0.085	0.24743	0.213	0.13210	0.292423486923	0.28857	0.20745575924353835	0.20661	0.171535694422	0.19320	0.31774225831	0.13079	T	0.042849	0.26316	T	-0.306864	0.08026	T	-0.678565	0.07072	T	0.155296669510038	0.17517	T	0.806719	0.45571	T	0.049749304	0.08882	0.06254994	0.12253	0.049749304	0.08881	0.06254994	0.12253	-5.643	0.43183	T	.	.	0.079	0.07083	B	.	.	1.556401	0.19942	14.51	0.92825632913245326	0.22356	0.56973	0.30255	D	AEFDGBI	0.107893	0.21481	N	-0.736455173832711	0.15003	0.7523462	-0.661235949719315	0.17933	0.9557947	0.953174034619625	0.28058	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	2.33	0.27981	0.648000	0.24515	4.966000	0.46371	0.599000	0.40250	0.016000	0.19238	0.679000	0.26109	0.570000	0.30651	0.0:0.5845:0.4155:0.0	17.670	0.88118	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	34	chr18	10550156	.	C	T	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=775;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.2;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	18	0	1	0
chr18	11887006	11887006	C	T	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G589A:p.V197M,MPPE1:NM_001319154:exon7:c.G589A:p.V197M,MPPE1:NM_001330563:exon7:c.G589A:p.V197M,MPPE1:NM_023075:exon7:c.G589A:p.V197M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0044	0.00519169	0.0012	0.0141	0.0002	0.0001	0	0	0	0	0.0012096	187	154602	rs35611363	0.0004	0.0004	0.0005	0.0004	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0005	0	5.042e-05	0	0.0003	3.96e-05	0.0008	3.48e-05	0.0039	0.0039	0.0042	0.0035	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0029	0	0	0	0	2.94e-05	0.0024	0	0.725	0.06847	T	0.998	0.02320	T	0.559	0.90584	P	0.215	0.71741	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.1	0.28011	L	2.34	0.69657	T	-0.23	0.10656	N	0.549	0.57518	-1.1295	0.01806	T	0.028	0.11838	T	10	0.010538697	0.00234	T	.	.	.	0.198	0.48105	.	.	0.79001731168	0.78807	0.7896201543826606	0.78914	0.178683317047	0.20107	0.611701965332	0.54557	T	0.168872	0.51604	T	-0.316875	0.07157	T	-0.216269	0.53096	T	0.0415411342613355	0.03971	T	0.90081	0.66975	D	0.04009204	0.05657	0.072697856	0.15715	0.04009204	0.05657	0.072697856	0.15714	-2.35	0.12763	T	.	.	0.181	0.55998	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.977673	0.25127	16.65	0.83328649358514684	0.14666	0.95419	0.64646	D	AEFDGBI	0.517186	0.54341	D	-0.378325586930352	0.26242	1.43075	-0.364797720059878	0.26054	1.436739	0.999999990907247	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.2	3.42	0.38259	4.740000	0.61783	0.597000	0.19884	-0.176000	0.10722	1.000000	0.71638	0.087000	0.22477	0.135000	0.19760	0.0:0.8537:0.0:0.1463	11.428	0.49268	906	0.23090	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	902.33	34	chr18	11887006	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=772;ExcessHet=0;FS=3.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=2.39;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1335	18	0	1	0
chr18	12127779	12127779	A	C	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.A2594C:p.D865A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.00679817398095	.	.	0.0001	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs776030601	8.344e-06	7.524e-06	1.494e-06	1.541e-05	0.0002	4.48e-06	3.27e-06	9.351e-05	7.233e-05	0	0	0	0	0	0	0	0	0.0002	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.27	0.00744	N	.	.	.	.	.	.	0.084	0.06059	-0.9610	0.38993	T	0.121	0.42101	T	9	0.030057192	0.01132	T	0.006798	0.17982	T	.	.	0.155	0.05858	0.0138822411134	0.00435	0.031123102499489578	0.03061	0.500818857025	0.48483	0.667882144451	0.62536	T	0.00361	0.03020	T	-0.490772	0.00643	T	-0.706068	0.05500	T	0.0451664987765032	0.04632	T	0.0828917	0.00608	T	0.0365369	0.04512	0.047400944	0.06819	0.0365369	0.04512	0.047400944	0.06818	-5.827	0.44809	T	.	.	0.105	0.19357	B	.	.	0.310901	0.06862	3.392	0.1085738472034303	0.00148	0.00830	0.03341	N	AEFGBI	0.021146	0.00911	N	-1.50211981556193	0.01836	0.08050287	-1.46337014683872	0.02651	0.1223195	3.06470876330964E-4	0.06454	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.85	-1.59	0.08003	1.166000	0.31444	-1.009000	0.06620	-0.666000	0.04332	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.4433:0.3236:0.2331:0.0	4.092	0.09446	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr18	12127779	.	A	C	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.786;DP=710;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.183;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr18	12127901	12127901	G	A	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2716A:p.V906I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00268139193809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.99	0.63424	D	0.869	0.61749	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	.	.	.	.	.	.	0.237	0.26717	-1.0369	0.18264	T	0.117	0.41209	T	9	0.20387664	0.36558	T	0.002681	0.05492	T	.	.	0.153	0.05648	0.110078149338	0.10416	0.007665797815379618	0.00732	0.339670602382	0.35915	0.609141767025	0.54194	T	0.003676	0.03081	T	-0.180341	0.23686	T	-0.496824	0.22677	T	0.367775622955708	0.27711	T	0.39886	0.10126	T	0.031131502	0.02898	0.10709982	0.25778	0.031131502	0.02897	0.10709982	0.25777	-3.614	0.18060	T	.	.	0.150	0.33273	B	.	.	1.735361	0.22085	15.47	0.88843147212734486	0.18300	0.68156	0.33696	D	AEFGI	0.255809	0.37486	N	-0.0823440089561925	0.38166	2.231271	-0.273268785403472	0.28983	1.620193	2.46352948154679E-4	0.06141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.0	1.1	0.19578	4.934000	0.63192	6.613000	0.56094	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.1993:0.0:0.8007:0.0	4.544	0.11471	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	49	chr18	12127901	.	G	A	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.078;DP=825;ExcessHet=0;FS=16.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.3;MQRankSum=0.598;QD=0.47;ReadPosRankSum=0.808;SOR=4.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,108,1620:.	18	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	374.99	54	chr18	12814235	.	C	T	374.99	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.272;DP=672;ExcessHet=1.3;FS=210.157;InbreedingCoeff=-0.2243;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.3;SOR=9.066	GT:AD:DP:GQ:PL	0/0:28,0:28:7:0,7,376	13	0	5	1
chr18	12836808	12836808	T	C	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon2:c.A157G:p.S53G,PTPN2:NM_001207013:exon3:c.A244G:p.S82G,PTPN2:NM_002828:exon3:c.A244G:p.S82G,PTPN2:NM_080422:exon3:c.A244G:p.S82G,PTPN2:NM_080423:exon3:c.A244G:p.S82G	.	307	1204	11	0	0	11	0.00454733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0217224340116	0.0014	0.000199681	0.0011	0	0.0003	0	0	0.0015	0.0011	0.0019	0.0010284	159	154602	rs74163638	0.0011	0.0011	0.0010	0.0012	0.0021	0.0010	0.0010	0.0014	0.0013	0.0002	0.0005	0.0087	0	1.877e-05	0.0021	0.0010	0.0015	0.0016	0.0009	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0006	0.0081	0	0	0.0068	0.0012	0.0005	0.0006	0.033	0.50676	D	0.106	0.45318	T	0.528	0.39680	P	0.177	0.46460	B	0.009466	0.30346	N	0.235539	0.848796	0.28527	N	1.135	0.28956	L	-1.79	0.83815	D	-2.36	0.54382	N	0.333	0.37613	-0.1154	0.79742	T	0.469	0.79519	T	10	0.015157133	0.00318	T	0.021722	0.44526	T	0.418	0.72780	.	.	0.602485811666	0.59930	0.4559346452043075	0.45511	1.14464333826	0.79041	0.424264997244	0.28423	T	0.493838	0.81723	T	-0.303507	0.08332	T	-0.216007	0.53120	T	0.0323590123241052	0.02365	T	0.958704	0.85620	D	0.23082234	0.45844	0.123659536	0.29816	0.23082234	0.45844	0.123659536	0.29815	-8.647	0.67297	D	.	.	0.099	0.23883	B	.;.;.;.;.	.;.;.;.;.	5.426782	0.90767	31	0.9968461613292473	0.79507	0.87318	0.46821	D	AEFDGBIJ	0.253218	0.37275	N	0.325099875581465	0.57440	3.911284	0.428658960054705	0.63357	4.567894	0.999999483537784	0.74766	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	2.470000	0.44777	7.750000	0.68127	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1353:0.0:0.0:0.8647	12.136	0.53275	750	0.51762	.;.;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1418.33	33	chr18	12836808	.	T	C	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=748;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.812;SOR=0.95	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1432,0,1294	18	0	1	0
chr18	13015390	13015390	C	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon6:c.C582G:p.H194Q	.	427	1088	7	0	0	7	0.0032066	.	.	.	2818239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00753453920621	0.0064	0.00239617	0.0042	0.0023	0	0	0	0.0064	0.0053	0.0030	0.001533	237	154602	rs117292623	0.0071	0.0068	0.0072	0.0070	0.0082	0.0070	0.0069	0.0081	0.0080	0.0010	0.0009	7.95e-05	2.799e-05	0.0098	0.0016	0.0082	0.0047	0.0031	0.0049	0.0049	0.0053	0.0044	0.0081	0.0046	0.0045	0.0076	0.0073	0.0013	0	0.0012	0.0006	0	0.0090	0	0.0081	0.0038	0.0031	0.395	0.10659	T	0.371	0.16425	T	.	.	.	.	.	.	.	.	.	.	1	0.21100	N	.	.	.	1.86	0.24285	T	-0.71	0.20145	N	0.229	0.25745	-0.9414	0.42394	T	0.008	0.02801	T	9	0.0029313564	0.00047	T	0.007535	0.19979	T	0.036	0.09122	0.085	0.00830	0.141422826196	0.13715	0.0633376834195065	0.06272	0.125623545426	0.14159	0.368269324303	0.20583	T	0.026967	0.19847	T	-0.636149	0.00088	T	-0.67553	0.07259	T	0.00766921767361017	0.00089	T	0.642936	0.25461	T	0.029522995	0.02461	0.041860145	0.04853	0.029522995	0.02460	0.041860145	0.04853	-2.634	0.06766	T	.	.	0.186	0.40279	B	.;.	.;.	-0.003532	0.04258	1.057	0.93556326407848445	0.23390	0.07622	0.13631	N	AEFBI	0.051593	0.09130	N	-0.835352339183272	0.12413	0.6049267	-0.829719581857647	0.13777	0.7164835	0.519799208432604	0.21087	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.04	0.238	0.14741	0.049000	0.13983	-0.242000	0.10582	-0.200000	0.08971	0.002000	0.15269	0.940000	0.28757	0.760000	0.36145	0.0:0.313:0.2373:0.4497	3.022	0.05711	522	0.74218	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1435.33	33	chr18	13015390	.	C	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.57;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	18	0	1	0
chr18	13826354	13826354	A	G	exonic	MC5R	.	nonsynonymous SNV	MC5R:NM_005913:exon2:c.A589G:p.M197V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.00500329269368	.	.	3.295e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs760768386	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0001	1.48e-06	9.7e-07	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	8.993e-07	0	0	1.315e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.036	0.43393	D	0.465	0.12421	T	0.698	0.41805	P	0.438	0.45631	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	1.3	0.35590	T	-2.96	0.61722	D	0.815	0.81063	-0.8055	0.54819	T	0.150	0.47681	T	10	0.5329939	0.63289	D	0.005003	0.12629	T	0.391	0.70684	0.574	0.69826	0.668866860391	0.66607	.	.	0.29233043963	0.31646	0.492802321911	0.37828	T	0.349167	0.71706	T	-0.114974	0.33948	T	-0.102605	0.63196	T	0.364931260410271	0.27601	T	0.920408	0.71216	D	0.5916508	0.72240	0.5837083	0.75863	0.5916508	0.72242	0.5837083	0.75864	-8.931	0.67252	D	.	.	0.107	0.23986	B	.;.	.;.	3.356924	0.46327	22.3	0.99087453999662001	0.52124	0.98354	0.81929	D	AEFGBI	0.921882	0.89602	D	0.416035722292841	0.62302	4.444078	0.405179560801203	0.61885	4.395263	0.999999999998052	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.01	5.01	0.66477	8.924000	0.92376	7.907000	0.73837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	1.0:0.0:0.0:0.0	13.885	0.63206	854	0.34840	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3055.33	34	chr18	13826354	.	A	G	3055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1391;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.539;SOR=0.599	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1192	18	0	1	0
chr18	14105771	14105771	T	C	exonic	ZNF519	.	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.A769G:p.I257V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00193843885344	0.0059	0.00139776	0.0051	0.0014	0.0024	0	0.0044	0.0078	0.0078	0.0010	0.0051293	793	154602	rs61730995	0.0061	0.0061	0.0062	0.0060	0.0071	0.0060	0.0059	0.0070	0.0069	0.0010	0.0025	0.0054	2.52e-05	0.0055	0.0016	0.0071	0.0057	0.0011	0.0045	0.0045	0.0048	0.0043	0.0064	0.0042	0.0041	0.0059	0.0057	0.0016	0.0658	0.0026	0.0049	0	0.0042	0	0.0064	0.0080	0.0006	.	.	.	0.081	0.41742	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	0.999951	0.52396	D	0.545	0.13751	N	2.47	0.14783	T	.	.	.	0.029	0.00666	-1.0416	0.16830	T	0.046	0.19640	T	8	0.004030198	0.00078	T	0.001938	0.03456	T	.	.	.	.	0.146414634003	0.14194	0.007819620270334771	0.00746	0.0119293356791	0.01126	0.341980665922	0.16735	T	0.001405	0.00865	T	-0.729429	0.00024	T	-0.81486	0.01559	T	0.000302575227879644	0.00002	T	0.153085	0.01317	T	0.03191368	0.03119	0.048176594	0.07102	0.03191368	0.03119	0.048176594	0.07101	-5.127	0.38190	T	.	.	0.091	0.13127	B	.	.	-0.271922	0.02743	0.365	0.21175304037912981	0.00795	0.07287	0.13309	N	AEBCI	.	.	.	-1.10383004578723	0.06575	0.3030468	-1.19034595100075	0.06071	0.2910865	0.148433587701533	0.17398	0.553676	0.25195	0	0.601575	0.49859	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.646	0.646	0.16961	-1.409000	0.02589	.	.	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0E-4:0.0:0.9999	5.628	0.16773	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1627.33	60	chr18	14105771	.	T	C	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=930;ExcessHet=0;FS=4.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.33;SOR=0.713	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/0:195,17:212:55:0,55,5286	7	0	10	2
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3580.83	39	chr18	14513787	.	T	C	3580.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.99;DP=1467;ExcessHet=0.119;FS=3.543;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.02;MQRankSum=3.76;QD=8.16;ReadPosRankSum=1.49;SOR=0.97	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	17	0	2	0
chr18	14757831	14757831	G	T	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon5:c.G634T:p.A212S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.570040324917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.57	0.75187	M	-1.38	0.80301	T	-0.42	0.14193	N	0.566	0.58968	-0.4076	0.71787	T	0.587	0.85189	D	9	0.9252491	0.91874	D	0.57004	0.96108	D	0.376	0.69443	0.808	0.92512	0.66126974013	0.65843	0.1900994497287423	0.18927	0.221710870317	0.24707	0.869276642799	0.92464	D	0.006977	0.06403	T	0.0438145	0.57542	T	-0.17484	0.56999	T	0.532230496406555	0.33816	D	0.753825	0.37593	T	0.056235686	0.11037	0.07097188	0.15143	0.056235686	0.11036	0.07097188	0.15142	-8.286	0.63002	D	.	.	0.420	0.60678	A	.	.	2.583542	0.33503	19.36	0.98868599652892852	0.47597	0.41543	0.26680	N	AEFGBI	0.073603	0.14728	N	-0.0627749115064627	0.39034	2.295477	-0.336183010928242	0.26939	1.49148	8.05727505473246E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.971	0.971	0.18818	3.688000	0.54430	.	.	0.343000	0.19815	1.000000	0.71638	0.191000	0.23496	0.005000	0.06747	0.0:0.0:1.0:0.0	5.280	0.14980	929	0.16858	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	36	chr18	14757831	.	G	T	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.822;DP=726;ExcessHet=0;FS=3.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.559;SOR=1.11	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1209	18	0	1	0
chr18	14797824	14797824	G	T	exonic	ANKRD30B	.	stopgain	ANKRD30B:NM_001367607:exon20:c.G1999T:p.E667X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0010	0	0	0	0	0	0	0.0029	0.0002458	38	154602	rs567238605	0.0001	0.0002	7.055e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	3.171e-05	0	0	0	0	0.0004	7.413e-06	0.0002	0.0024	0.0001	0.0001	3.858e-05	0.0002	0.0033	7.093e-05	5.749e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.471e-05	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0218081	0.48594	T	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.491387	0.95297	34	0.98717548708398339	0.45157	0.02352	0.06711	N	AEFBI	0.019688	0.00707	N	0.055991399294735	0.44418	2.716291	-0.397091459317517	0.25084	1.377352	1.55475961991268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	2.079000	0.41201	.	.	-1.195000	0.01369	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	35	chr18	14797824	.	G	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.396;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.22;MQRankSum=-0.15;QD=13.43;ReadPosRankSum=-0.42;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr18	21573514	21573514	G	A	exonic	ESCO1	.	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.C1330T:p.H444Y	.	437	1068	16	1	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0013	0.00359425	0.0044	0.0003	0.0015	0	0.0009	0.0034	0.0033	0.0164	0.0039003	603	154602	rs146713905	0.0025	0.0025	0.0020	0.0030	0.0155	0.0024	0.0024	0.0148	0.0145	0.0003	0.0011	0.0070	0	0.0008	0.0057	0.0017	0.0027	0.0155	0.0016	0.0016	0.0015	0.0017	0.0125	0.0014	0.0014	0.0100	0.0090	0.0003	0	0.0018	0.0063	0	0.0002	0.0034	0.0017	0.0019	0.0125	0.114	0.28646	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.018265	0.27521	N	0.318671	1	0.08975	N	1.43	0.35840	L	0.28	0.59037	T	-1.28	0.32185	N	0.136	0.13341	-1.0582	0.12209	T	0.064	0.26385	T	10	0.0045928657	0.00096	T	.	.	.	0.031	0.07369	.	.	0.31506500091	0.31122	0.1572316535599928	0.15644	0.0083966144787	0.00763	0.282772749662	0.07882	T	0.029098	0.20925	T	-0.474557	0.00796	T	-0.441471	0.28644	T	0.00511513531306711	0.00055	T	0.555444	0.19245	T	0.025368847	0.01468	0.04517232	0.06021	0.025368847	0.01468	0.04517232	0.06020	-4.255	0.27541	T	.	.	0.073	0.04477	B	.	.	0.243426	0.06232	2.687	0.91231191674201328	0.20488	0.05980	0.11941	N	AEFDBI	0.041615	0.06349	N	-0.830299534586985	0.12541	0.6119013	-0.747720079566386	0.15778	0.8315228	0.0928019650306416	0.16167	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.8	2.64	0.30504	0.666000	0.24779	2.123000	0.30732	0.676000	0.76740	0.060000	0.21767	0.982000	0.30508	0.096000	0.18090	0.3762:0.0:0.6238:0.0	7.288	0.25522	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.011364	0.02632	2064.33	35	chr18	21573514	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.218;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	18	0	1	0
chr18	22992898	22992898	A	C	exonic	RBBP8	.	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1071C:p.K357N,RBBP8:NM_203291:exon11:c.A1071C:p.K357N,RBBP8:NM_203292:exon11:c.A1071C:p.K357N	Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive	3	1508	11	0	0	11	0.00363396	.	.	YES	135548	RBBP8-related_disorder|not_provided|not_specified	MedGen:CN239300|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0055	0.0129792	0.0050	0.0192	0.0007	0.0002	0	1.5e-05	0.0011	0.0242	0.0036115	94	26028	rs34678569	0.0021	0.0021	0.0015	0.0027	0.0251	0.0020	0.0020	0.0242	0.0238	0.0189	0.0006	0	0.0003	0	0.0019	1.799e-05	0.0030	0.0251	0.0059	0.0059	0.0057	0.0060	0.0282	0.0055	0.0054	0.0244	0.0229	0.0174	0	0.0013	0	0.0006	0	0	5.881e-05	0.0024	0.0282	0.696	0.04757	T	0.635	0.07666	T	0.0	0.02946	B	0.0	0.01387	B	0.134587	0.02836	N	1.534940	1	0.08975	N	.	.	.	1.61	0.29085	T	0.54	0.02945	N	0.105	0.08925	-1.0528	0.13628	T	0.011	0.04134	T	10	0.002441287	0.00036	T	.	.	.	0.017	0.02790	0.087	0.00904	0.0401082797425	0.02173	0.05475330252128637	0.05416	0.0496606491298	0.05445	0.251399040222	0.03916	T	0.07004	0.33862	T	-0.700595	0.00036	T	-0.760208	0.03105	T	0.000271268835331335	0.00002	T	0.574243	0.20591	T	0.040315	0.05732	0.024667751	0.00490	0.032101203	0.03173	0.030937659	0.01615	-3.812	0.22753	T	0.0673271331133879	0.02361	0.073	0.11558	B	.;.;.;.;.	.;.;.;.;.	-0.753977	0.01202	0.059	0.40272377519639602	0.02832	0.01775	0.05566	N	AEFBI	0.027729	0.02318	N	-1.51109643797217	0.01776	0.07781704	-1.44407365419076	0.02824	0.1306185	0.657394187114821	0.22232	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.17	-1.79	0.07504	-0.728000	0.05029	-1.445000	0.05423	-0.601000	0.04613	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.4437:0.168:0.0844:0.3039	1.732	0.02757	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.015152	0.02632	1774.33	34	chr18	22992898	.	A	C	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=747;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.076;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr18	23136103	23136103	C	T	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.C341T:p.A114V	.	429	1091	2	0	0	2	0.000915751	.	.	.	3640735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0711695701972	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28477404	2.124e-05	4.31e-05	2.564e-05	1.634e-05	0.0007	1.391e-05	1.187e-05	0.0004	0.0003	0	0	0	4.543e-05	0	0	6.728e-06	2.502e-05	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.164	0.31026	T	0.753	0.43334	P	0.337	0.42281	B	0.471210	0.04927	U	2.609870	1	0.81001	D	0.55	0.14455	N	0.74	0.50459	T	-0.89	0.24026	N	0.087	0.06454	-0.9699	0.37220	T	0.107	0.38857	T	10	0.15245202	0.28795	T	0.07117	0.71199	D	0.052	0.14661	0.316	0.29258	0.407632638399	0.40377	0.252068650369492	0.25120	1.12339837469	0.78355	0.887925505638	0.95000	D	0.055501	0.30025	T	-0.172554	0.24851	T	-0.485638	0.23849	T	0.439752805859184	0.30420	T	0.49875	0.15541	T	0.20606592	0.42769	0.2119076	0.45638	0.20606592	0.42769	0.2119076	0.45637	-4.938	0.36159	T	.	.	0.192	0.41094	B	.	.	2.991926	0.39950	21.1	0.99858348845902323	0.93729	0.16705	0.19511	N	AEFDBHCIJ	0.153388	0.27824	N	-0.439078363579687	0.24112	1.299641	-0.520635742155076	0.21593	1.168851	0.999999997947367	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	1.6	1.6	0.22686	3.078000	0.49794	3.126000	0.36421	0.436000	0.21017	0.620000	0.27914	0.969000	0.29651	0.621000	0.31922	0.0:1.0:0.0:0.0	8.400	0.31742	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	29	chr18	23136103	.	C	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=545;ExcessHet=0;FS=2.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.41;SOR=0.392	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,715	18	0	1	0
chr18	23437828	23437828	C	T	exonic	TMEM241	.	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.G25A:p.G9S	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00674949173653	0.0015	0.000998403	0.0015	0.0001	0.0008	0	0.0032	0.0018	0.0012	0.0021	0.0014359	222	154602	rs141175653	0.0020	0.0020	0.0021	0.0019	0.0022	0.0020	0.0019	0.0021	0.0021	0.0003	0.0011	0.0015	0	0.0022	0.0016	0.0022	0.0018	0.0017	0.0016	0.0016	0.0016	0.0015	0.0022	0.0014	0.0013	0.0019	0.0018	0.0002	0	0.0015	0.0017	0	0.0040	0	0.0022	0.0014	0.0012	0.406	0.14694	T	0.348	0.34596	T	0.931	0.51899	P	0.155	0.34417	B	0.000160	0.49130	N	0.142496	0.988695	0.40811	D	1.63	0.41750	L	0.88	0.46028	T	-1.55	0.37566	N	0.238	0.36254	-1.0803	0.07291	T	0.057	0.23828	T	10	0.011115015	0.00244	T	0.006749	0.17840	T	0.167	0.42761	.	.	0.532938547298	0.52943	0.6941257421589175	0.69353	0.152049090641	0.17156	0.422081172466	0.28122	T	0.002329	0.01729	T	-0.427896	0.01526	T	-0.392346	0.34276	T	0.0600212924416485	0.07173	T	0.792821	0.43457	T	0.09366622	0.22004	0.13118826	0.31506	0.09366622	0.22004	0.13118826	0.31506	-9.121	0.68472	D	.	.	0.129	0.29887	B	.;.;.;.	.;.;.;.	3.200237	0.43516	21.7	0.97465917712008121	0.34110	0.70908	0.34787	D	AEFDGBHCI	0.196390	0.32337	N	-0.00767630048463162	0.41508	2.483961	-0.0251124450179937	0.38584	2.275335	0.999999999998273	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.39	2.6	0.30173	0.907000	0.28154	1.961000	0.29937	0.599000	0.40250	0.926000	0.32145	0.997000	0.33255	0.992000	0.67800	0.145:0.701:0.0:0.154	6.718	0.22500	891	0.26808	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	855.33	38	chr18	23437828	.	C	T	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=739;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.552;SOR=1.319	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1230	18	0	1	0
chr18	23561498	23561498	C	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G493T:p.A165S	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.171104345665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.407	0.14679	T	0.0	0.02946	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-2.66	0.90272	D	-1.06	0.27669	N	0.395	0.43610	0.010	0.82451	D	0.641	0.87473	D	10	0.36760765	0.53224	T	0.171104	0.84847	D	0.408	0.72022	0.402	0.43245	0.809956302614	0.80817	0.8098238456092971	0.80937	0.240613665134	0.26601	0.544283509254	0.45051	T	0.510	0.82668	D	0.199126	0.73810	D	0.0482543	0.73467	D	0.522896136342766	0.33472	D	0.860114	0.55285	D	0.46299222	0.64857	0.40005478	0.64552	0.46299222	0.64858	0.40005478	0.64552	-3.882	0.22032	T	0.14736072981254628	0.17071	0.122	0.25396	B	.	.	3.171445	0.43013	21.6	0.99112789789038425	0.52776	0.99025	0.90130	D	AEFDBI	0.680430	0.64413	D	0.0115427499798247	0.42380	2.552371	0.198374826158291	0.49758	3.175255	0.999998707308992	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.858000	0.62646	5.942000	0.51497	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.326	0.94249	600	0.68026	Niemann-Pick C1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	870.33	34	chr18	23561498	.	C	A	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=686;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.502;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr18	23751087	23751087	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon5:c.G854A:p.R285Q,LAMA3:NM_001302996:exon5:c.G854A:p.R285Q,LAMA3:NM_198129:exon5:c.G854A:p.R285Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.9495	0.662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.741	0.103395874027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.58761	D	.	.	.	-1.02	0.76300	T	-3.15	0.64132	D	0.766	0.76388	0.528	0.90943	D	0.703	0.89761	D	9	0.78978586	0.78559	D	0.103396	0.77741	D	0.741	0.91026	.	.	0.765929506732	0.76379	0.7240235393249653	0.72346	0.369277446004	0.38454	0.745229125023	0.73742	T	0.06789	0.33318	T	0.334083	0.85440	D	0.242111	0.85250	D	0.982583022465814	0.74580	D	0.978852	0.92629	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.69440	P	.;.	.;.	5.207289	0.87374	29.2	0.9992581558295186	0.99042	0.99020	0.90058	D	AEFBI	0.944009	0.95057	D	0.700005622737059	0.79631	7.118904	0.744423079678159	0.85740	8.671632	0.999999999016636	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	9.543000	0.97188	7.584000	0.61047	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.707	0.96075	652	0.62785	.;Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	170.33	33	chr18	23751087	.	G	A	170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=687;ExcessHet=0;FS=27.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=-0.319;SOR=4.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr18	23827408	23827408	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon23:c.G2764A:p.V922M,LAMA3:NM_198129:exon23:c.G2764A:p.V922M	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00909519731129	8.1e-05	0.000199681	0.0005	0	0	0	0	0.0004	0	0.0022	0.0004722	73	154602	rs201248742	0.0004	0.0004	0.0003	0.0005	0.0081	0.0004	0.0004	0.0063	0.0056	0.0002	0.0001	0	2.519e-05	1.872e-05	0.0081	0.0003	0.0006	0.0024	0.0003	0.0003	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	9.622e-05	0	0.0008	0	0	0	0	0.0003	0.0005	0.0017	0.078	0.35918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.15	0.19450	T	-0.33	0.12472	N	0.156	0.17278	-1.0304	0.20325	T	0.017	0.06998	T	9	0.007991761	0.00181	T	0.009095	0.23917	T	0.057	0.16321	.	.	0.139678290688	0.13603	0.227753768285214	0.22690	0.219691337709	0.24512	0.348461687565	0.17695	T	0.016916	0.13890	T	-0.624475	0.00103	T	-0.675959	0.07232	T	0.0145026465293493	0.00295	T	0.709329	0.31993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12797	B	.;.	.;.	0.210154	0.05940	2.378	0.91360147553035098	0.20624	0.05480	0.11363	N	AEFDBCIJ	0.067028	0.13156	N	-1.32937693909035	0.03344	0.1491932	-1.4205534804467	0.03047	0.1413918	0.999998383613935	0.74766	0.740787	0.97801	0	0.547309	0.14657	0	0.602189	0.34648	0	0.673998	0.66042	0	.	.	5.65	-4.98	0.02794	-0.224000	0.09169	-0.762000	0.07532	-1.598000	0.00897	0.046000	0.21249	0.000000	0.08366	0.400000	0.26782	0.1024:0.1981:0.3023:0.3973	2.253	0.03799	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.000000	0.006793	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	2681.33	33	chr18	23827408	.	G	A	2681.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=807;ExcessHet=0;FS=2.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.682;SOR=0.526	GT:AD:DP:GQ:PL	0/1:86,103:189:99:2695,0,2170	18	0	1	0
chr18	23871617	23871617	G	C	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon38:c.G4954C:p.E1652Q,LAMA3:NM_198129:exon38:c.G4954C:p.E1652Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4156455	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.563	0.0508009874853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-06	1.376e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.01	0.62762	T	-2.54	0.55025	D	0.665	0.67391	0.481	0.90279	D	0.607	0.86064	D	9	0.9329901	0.92634	D	0.050801	0.64396	D	0.563	0.82118	0.792	0.91365	0.830602023414	0.82899	0.7980881287265624	0.79761	0.565652636351	0.52896	0.621536016464	0.55947	T	0.058989	0.30995	T	0.176367	0.71707	D	0.0155624	0.71343	D	0.996087193489075	0.88637	D	0.934107	0.75346	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80751	P	.;.;.	.;.;.	4.392897	0.67805	25.1	0.99816868365520095	0.89973	0.79720	0.39559	D	ALL	0.913668	0.87596	D	0.984741529541882	0.95256	13.45009	0.863751309119716	0.93794	12.28426	1.0	0.98316	0.740787	0.97801	0	0.658952	0.61834	0	0.547309	0.15389	0	0.673998	0.66042	0	.	.	5.43	5.43	0.79006	9.474000	0.96853	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:0.0:1.0:0.0	19.596	0.95533	569	0.70546	.;Laminin IV|Laminin IV;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1961.33	164	chr18	23871617	.	G	C	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=780;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-1.458;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	18	0	1	0
chr18	25225890	25225890	T	G	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_001308225:exon3:c.A1368C:p.Q456H,ZNF521:NM_015461:exon4:c.A2028C:p.Q676H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0126031289332	.	.	3.312e-05	0	0	0	0	6.026e-05	0	0	3.88e-05	6	154602	rs148801410	3.01e-05	3.01e-05	2.45e-05	3.575e-05	0.0003	2.282e-05	2.032e-05	6.092e-05	2.521e-05	0.0001	6.708e-05	0	0	0	0.0003	2.968e-05	1.656e-05	1.159e-05	5.255e-05	5.253e-05	5.137e-05	5.378e-05	8.819e-05	2.556e-05	1.83e-05	3.761e-05	2.575e-05	2.412e-05	0	6.54e-05	0	0	0	0	8.819e-05	0	0	0.007	0.59928	D	0.024	0.56640	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.803287	0.29089	N	1.435	0.35949	L	0.6	0.53731	T	-2.25	0.50337	N	0.738	0.75742	-0.2280	0.76940	T	0.476	0.79920	T	10	0.5716454	0.65352	D	0.012603	0.31316	T	0.414	0.72479	0.612	0.74535	0.259504319725	0.25562	0.4059067767618641	0.40506	1.05237571627	0.76196	0.865358233452	0.91899	D	0.239197	0.60726	T	-0.0886102	0.38305	T	-0.189212	0.55665	T	0.25365310821901	0.23036	T	0.933807	0.75196	D	0.3218111	0.54792	0.30634037	0.56659	0.3218111	0.54792	0.30634037	0.56658	-6.564	0.50778	T	.	.	0.520	0.69020	A	.;.;.	.;.;.	1.313670	0.17168	13.00	0.6640524104142973	0.08049	0.15443	0.18914	N	AEFGBI	0.372150	0.45790	N	-0.738793448734839	0.14939	0.7485445	-0.969280657307751	0.10479	0.5280499	0.999999990780021	0.74766	0.706548	0.73137	0	0.475579	0.06741	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.87	-8.83	0.00696	-1.886000	0.01710	-4.273000	0.02245	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.0:0.8106:0.0:0.1894	24.488	0.99990	905	0.23532	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2262.33	39	chr18	25225890	.	T	G	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=963;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.312;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr18	25227295	25227295	C	T	exonic	ZNF521	.	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G623A:p.R208H	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.011816891317	.	.	3.298e-05	0	8.646e-05	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs766248011	1.094e-05	1.163e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	7.41e-06	3.32e-06	0	4.472e-05	0	0	0	0.0002	8.993e-06	3.311e-05	1.159e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.021	0.49117	D	0.183	0.29153	T	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.839201	0.81001	D	0.125	0.08623	N	2.47	0.14783	T	-1.25	0.31576	N	0.737	0.73735	-1.0396	0.17434	T	0.061	0.25563	T	10	0.34958017	0.51848	T	0.011817	0.29821	T	0.313	0.63482	0.528	0.63412	0.082315109003	0.07666	0.4903302550205542	0.48953	1.21362852847	0.80899	0.841413497925	0.88309	D	0.143521	0.47967	T	-0.109112	0.34916	T	-0.218662	0.52866	T	0.347240244509848	0.26910	T	0.960604	0.85218	D	0.17582998	0.38463	0.09649519	0.22929	0.17582998	0.38463	0.09649519	0.22928	-5.981	0.46121	T	.	.	0.357	0.60318	A	.;.;.	.;.;.	4.535278	0.71241	25.6	0.98017529606722564	0.37605	0.94927	0.62815	D	AEFDGBI	0.804240	0.72916	D	0.638489552122795	0.75626	6.339296	0.706774271325248	0.82893	7.881352	0.999999999992917	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.98	5.98	0.97147	5.818000	0.68915	4.958000	0.46324	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9294:0.0:0.0706	13.620	0.61604	896	0.25515	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2515.33	39	chr18	25227295	.	C	T	2515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=946;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.314;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	18	0	1	0
chr18	26057676	26057676	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C298T:p.R100C,SS18:NM_001308201:exon4:c.C229T:p.R77C,SS18:NM_005637:exon4:c.C298T:p.R100C	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.013112774546	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149811250	2.052e-06	2.052e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	0	0	0	0.003	0.72154	D	0.055	0.47336	T	0.999	0.77913	D	0.818	0.58969	P	0.000002	0.62929	D	0.107658	1	0.81001	D	1.1	0.28011	L	1.44	0.32722	T	-2.21	0.52289	N	0.683	0.70263	-1.0293	0.20681	T	0.122	0.42314	T	10	0.331862	0.50401	T	0.013113	0.32253	T	0.200	0.48430	.	.	0.0934897674506	0.08844	0.3101445041467752	0.30927	0.865720568616	0.69199	0.450907945633	0.32068	T	0.336766	0.70623	T	0.0281117	0.55472	T	-0.197396	0.54894	T	0.891956269741058	0.54298	D	0.954105	0.82551	D	0.26368293	0.49434	0.21599853	0.46211	0.26368293	0.49434	0.21599853	0.46210	-2.752	0.07955	T	.	.	0.175	0.38300	B	.;.;.;.;.	.;.;.;.;.	5.714926	0.93194	33	0.98036028320958046	0.37751	0.97212	0.73352	D	AEFDBCIJ	0.970195	0.99249	D	0.531763577098098	0.68978	5.292353	0.60079880982415	0.74997	6.233415	1.0	0.98316	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	19.198	0.93684	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	34	chr18	26057676	.	G	A	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.449;DP=724;ExcessHet=0;FS=4.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.7;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	18	0	1	0
chr18	26281974	26281974	G	A	exonic	TAF4B	.	nonsynonymous SNV	TAF4B:NM_001293725:exon6:c.G886A:p.A296T,TAF4B:NM_005640:exon6:c.G886A:p.A296T	.	0	225	1	0	0	1	0.00221729	.	.	.	2818259	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.0189873992405	8.5e-05	0.000199681	5.862e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs199708767	3.701e-05	3.899e-05	3.41e-05	3.995e-05	4.053e-05	2.899e-05	2.597e-05	3.089e-05	2.757e-05	0	0	0	0	0	0	4.053e-05	0.0001	2.329e-05	3.284e-05	3.281e-05	1.285e-05	5.372e-05	6.542e-05	1.26e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.542e-05	0	0	0	0	5.881e-05	0	0	0.061	0.37118	T	0.014	0.63109	D	0.377	0.34270	B	0.351	0.42849	B	0.000093	0.51296	D	0.173260	0.984973	0.42019	D	2.32	0.66415	M	0.8	0.48769	T	-2.33	0.51646	N	0.491	0.53532	-0.8002	0.55133	T	0.232	0.59757	T	10	0.20642817	0.36903	T	0.018987	0.41227	T	0.202	0.48754	.	.	0.292942362817	0.28906	0.4066184775939623	0.40577	0.226262998433	0.25180	0.533986210823	0.43597	T	0.346332	0.71461	T	-0.189136	0.22386	T	-0.311814	0.43464	T	0.253447711467743	0.23027	T	0.937806	0.76632	D	0.12976377	0.30298	0.17352584	0.39684	0.12976377	0.30298	0.17352584	0.39683	-6.521	0.50449	T	.	.	0.168	0.46458	B	.;.	.;.	4.283195	0.65264	24.8	0.94623600978799483	0.25205	0.95786	0.66147	D	AEFBI	0.525574	0.54829	D	0.393192283237801	0.61052	4.30134	0.435991664765134	0.63822	4.623811	0.999800786705231	0.43304	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	5.696000	0.67947	8.667000	0.77995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:0.851:0.1489	14.260	0.65624	844	0.36711	TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	34	chr18	26281974	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.033;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.421;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr18	26548290	26548290	C	G	exonic	KCTD1	.	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.G247C:p.G83R	Scalp-ear-nipple syndrome, Autosomal dominant	323	1197	1	1	0	3	0.00125156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	.	0.00159744	0.0057	0	0.0059	0	0	0	0	0.0094	0.0005369	83	154602	rs545784375	0.0005	0.0005	0.0002	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	0	0	0	0	0	0	4.696e-06	0.0002	0.0092	0.0002	0.0002	5.166e-05	0.0004	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.0340	0.81546	T	0.507	0.81459	D	6	0.008348703	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892121136189	0.95522	D	.	.	.	.	.	.	.	.	.	.	.	.	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.51174	B	.	.	3.599367	0.50833	23.0	0.97963071130795842	0.37195	0.80235	0.39927	D	AEFDGBHCI	0.356875	0.44810	N	0.192668431217009	0.50847	3.270885	0.209860941243071	0.50393	3.231898	0.999999999985865	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.492483	0.08430	1	.	.	3.46	3.46	0.38718	1.076000	0.30340	7.270000	0.57987	0.456000	0.21511	0.969000	0.34210	1.000000	0.68203	0.997000	0.79791	0.0:0.8862:0.0:0.1138	8.864	0.34434	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	456.33	33	chr18	26548290	.	C	G	456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.399;DP=672;ExcessHet=0;FS=7.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.076;SOR=1.279	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1196	18	0	1	0
chr18	26916363	26916363	C	T	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G1228A:p.V410M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0781816074379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291133808	3.011e-05	3.078e-05	3.132e-05	2.889e-05	0.0002	2.282e-05	2.033e-05	2.712e-05	2.387e-05	0	0	0	0	0	0.0002	3.598e-05	4.968e-05	0	3.284e-05	3.281e-05	3.856e-05	2.687e-05	4.413e-05	1.26e-05	7.98e-06	1.172e-05	6.25e-06	2.406e-05	0	0	0	0	0	0.0034	4.413e-05	0	0	.	.	.	0.052	0.47581	T	0.999	0.77913	D	0.98	0.74843	D	0.000009	0.62929	D	0.000000	0.999218	0.81001	D	1.57	0.39626	L	-0.86	0.74477	T	.	.	.	0.316	0.36569	-0.1690	0.78452	T	0.435	0.77542	T	10	0.46356452	0.59432	T	0.078182	0.72945	D	.	.	0.563	0.68364	0.931016252499	0.93030	0.5014915545137554	0.50071	.	.	0.505343317986	0.39572	T	0.300993	0.67346	T	0.0364664	0.56580	T	-0.185395	0.56020	T	0.837623575889094	0.49135	D	0.886311	0.61284	D	0.13372497	0.31094	0.119823396	0.28920	0.13372497	0.31094	0.119823396	0.28919	-4.061	0.24713	T	.	.	0.361	0.57317	A	.;.	.;.	4.238210	0.64232	24.7	0.99827077422486199	0.90939	0.84455	0.43537	D	AEFBI	0.344726	0.44012	N	0.647509030214827	0.76209	6.444166	0.688339259811733	0.81492	7.539599	0.999167520489141	0.38622	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.536000	0.60348	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.9305:0.0:0.0695	13.806	0.62721	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1548.33	33	chr18	26916363	.	C	T	1548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=729;ExcessHet=0;FS=1.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.213;SOR=0.5	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr18	26917075	26917075	C	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G516T:p.E172D	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0019	0.00299521	0.0028	0.0001	0.0009	0.0001	0.0057	0.0026	0.0067	0.0066	0.0026843	415	154602	rs149359030	0.0022	0.0022	0.0021	0.0024	0.0063	0.0022	0.0022	0.0058	0.0057	0.0003	0.0010	0.0077	2.52e-05	0.0084	0.0050	0.0017	0.0021	0.0063	0.0026	0.0026	0.0023	0.0028	0.0070	0.0023	0.0023	0.0052	0.0045	0.0002	0	0.0008	0.0092	0.0002	0.0093	0.0034	0.0029	0.0043	0.0070	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006679	0.31877	N	0.310484	1	0.08975	N	-1.75	0.00322	N	-0.1	0.64264	T	.	.	.	0.022	0.00571	-1.0246	0.22214	T	0.035	0.15030	T	10	0.0025432706	0.00038	T	.	.	.	.	.	0.414	0.45216	0.314417295294	0.31040	0.28074191338002796	0.27987	.	.	0.318222284317	0.13151	T	0.060103	0.31295	T	-0.60998	0.00127	T	-0.646081	0.09231	T	0.000571501802799079	0.00005	T	0.059594	0.00430	T	0.045573115	0.07481	0.038288143	0.03666	0.045573115	0.07481	0.038288143	0.03665	-5.204	0.38982	T	.	.	0.070	0.03736	B	.;.	.;.	0.330550	0.07045	3.610	0.7634190321159201	0.11429	0.01120	0.04086	N	AEFBHCI	0.032658	0.03729	N	-1.3980929535488	0.02656	0.1176084	-1.27057911160516	0.04833	0.2289488	0.963894131438598	0.28722	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	-0.787	0.10391	0.252000	0.18046	0.066000	0.14196	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.4943:0.2759:0.1388:0.0911	3.259	0.06438	931	0.16308	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.011696	0.000000	0.000000	0.015244	0.003788	0.02632	2591.33	33	chr18	26917075	.	C	A	2591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.067;DP=837;ExcessHet=0;FS=3.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.148;SOR=0.508	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr18	31008419	31008419	A	C	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.T1370G:p.L457W,DSC3:NM_024423:exon10:c.T1370G:p.L457W	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0153542169892	.	0.000199681	0.0002	0	8.672e-05	0.0014	0.0002	7.496e-05	0	6.057e-05	0.0001423	22	154602	rs202208419	8.688e-05	8.687e-05	7.487e-05	9.901e-05	0.0013	7.42e-05	6.969e-05	0.0010	0.0009	0	4.472e-05	0.0003	0.0013	9.361e-05	0	3.777e-05	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	9.234e-05	0.0013	0.0010	2.406e-05	0	6.538e-05	0.0009	0.0023	0.0002	0	5.88e-05	0	0.0002	0.032	0.44694	D	0.01	0.65728	D	0.972	0.63424	D	0.84	0.60170	P	0.805807	0.06797	N	1.156770	0.999297	0.21398	N	2.095	0.58118	M	1.07	0.39586	T	-1.43	0.35194	N	0.502	0.54409	-0.9861	0.33566	T	0.156	0.48807	T	10	0.053907156	0.05656	T	0.015354	0.36031	T	0.160	0.41473	.	.	0.492884620584	0.48921	0.5172298087922161	0.51645	0.294987124137	0.31910	0.354326337576	0.18557	T	0.158103	0.50098	T	-0.431799	0.01446	T	-0.41204	0.31991	T	0.0710428698494488	0.08796	T	0.444256	0.12390	T	0.097482964	0.22980	0.14653862	0.34713	0.08564299	0.19873	0.14375897	0.34152	-6.368	0.49868	T	.	.	0.128	0.27313	B	.;.	.;.	3.611580	0.51069	23.0	0.95420018989281319	0.26896	0.70761	0.34725	D	AEFBI	0.302144	0.41047	N	0.243057906609064	0.53296	3.499149	0.206881979729783	0.50231	3.217146	0.0268525002529698	0.13738	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.34	2.82	0.32061	0.998000	0.29345	0.529000	0.19232	0.756000	0.94297	0.140000	0.23505	0.000000	0.08366	0.991000	0.66497	0.6468:0.0:0.3532:0.0	6.971	0.23826	849	0.35778	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1688.33	33	chr18	31008419	.	A	C	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=771;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.055;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1175	18	0	1	0
chr18	31082255	31082255	C	G	exonic	DSC2	.	nonsynonymous SNV	DSC2:NM_004949:exon9:c.G1246C:p.V416L,DSC2:NM_024422:exon9:c.G1246C:p.V416L	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.011344289712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.177	0.54159	T	0.01	0.17573	B	0.027	0.21085	B	0.666886	0.06013	N	1.267280	0.999998	0.08975	N	1.725	0.44537	L	1.14	0.38397	T	-1.61	0.38734	N	0.156	0.16168	-0.9819	0.34561	T	0.080	0.31615	T	10	0.13318062	0.25347	T	0.011344	0.28865	T	0.077	0.22490	0.688	0.82558	0.12205267543	0.11705	0.43306485416350565	0.43223	0.111390099725	0.12571	0.291384160519	0.09123	T	0.088498	0.38172	T	-0.302298	0.08444	T	-0.672006	0.07480	T	0.0542109735235925	0.06225	T	0.958804	0.87188	D	0.1655153	0.36828	0.11361059	0.27420	0.1655153	0.36827	0.11361059	0.27419	-5.049	0.37367	T	0.33372404027871755	0.43169	0.203	0.42777	B	.;.;.	.;.;.	0.262354	0.06405	2.875	0.70445472085598071	0.09298	0.03623	0.08862	N	AEFBI	0.098099	0.19774	N	-1.24669643675593	0.04344	0.1958442	-1.2590431636373	0.04998	0.237153	0.0286040104485228	0.13841	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.69	-4.04	0.03741	-3.763000	0.00419	-2.150000	0.04139	-0.862000	0.02622	0.000000	0.06391	0.000000	0.08366	0.894000	0.43146	0.0929:0.4018:0.0:0.5053	9.24	0.36652	844	0.36711	Cadherin-like|Cadherin-like|Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.34	77	chr18	31082255	.	C	G	50.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.842;DP=1107;ExcessHet=0;FS=67.106;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.01;SOR=6.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,959:.	18	0	1	0
chr18	31326880	31326880	G	A	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon3:c.G91A:p.D31N	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0367903997544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.984e-05	1.984e-05	2.451e-05	1.513e-05	2.609e-05	1.392e-05	1.204e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.609e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.288	0.21144	T	0.94	0.52768	P	0.601	0.50808	P	0.000483	0.43931	D	0.098320	0.995224	0.42597	D	2.075	0.57047	M	0.34	0.58176	T	-1.24	0.31375	N	0.229	0.25745	-0.8561	0.51541	T	0.213	0.57428	T	10	0.4420376	0.58162	T	0.03679	0.57211	D	0.228	0.52768	0.733	0.86633	0.624900152263	0.62184	0.655875413230874	0.65523	0.408834429351	0.41713	0.480736613274	0.36158	T	0.073191	0.34638	T	-0.177053	0.24176	T	-0.492101	0.23171	T	0.990165293216705	0.80380	D	0.838916	0.51225	T	0.1434232	0.32964	0.14409958	0.34223	0.1434232	0.32964	0.14409958	0.34222	-3.047	0.10696	T	0.2282430933462252	0.30865	0.188	0.40506	B	.	.	4.875873	0.79927	27.2	0.9990717569211347	0.97726	0.96137	0.67702	D	AEFBI	0.663907	0.63326	D	0.486088557004513	0.66276	4.929436	0.527119655193985	0.69822	5.415414	0.999985805557164	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.988000	0.75982	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.457	0.94890	409	0.82198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1552.33	33	chr18	31326880	.	G	A	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=750;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.978;SOR=0.496	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr18	31354317	31354317	T	A	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.T2121A:p.D707E	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	715930	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.631	.	0.0008	0.0115815	0.0095	0.0008	0.0788	0.0213	0.0011	0.0003	0.0033	0.0012	0.0091525	1415	154602	rs139058372	0.0034	0.0034	0.0037	0.0031	0.0753	0.0033	0.0033	0.0732	0.0723	0.0006	0.0753	0	0.0232	0.0009	0.0007	0.0002	0.0045	0.0016	0.0069	0.0069	0.0060	0.0077	0.0551	0.0065	0.0064	0.0520	0.0508	0.0011	0	0.0551	0	0.0213	0.0008	0	0.0003	0.0062	0.0017	0.465	0.08609	T	0.477	0.39954	T	0.937	0.52445	P	0.794	0.57880	P	0.000001	0.62929	D	0.000000	0.97373	0.39048	D	1.235	0.30780	L	-1.43	0.80730	T	-1.71	0.40660	N	0.525	0.55453	-0.5166	0.68042	T	0.158	0.49178	T	10	0.0071102083	0.00162	T	.	.	.	0.631	0.85821	0.728	0.86198	.	.	0.609172698769941	0.60849	0.41194660241	0.41941	0.695853590965	0.66545	T	0.051505	0.28899	T	-0.228885	0.16797	T	-0.0423736	0.67542	D	0.0509829312414452	0.05672	T	0.618838	0.24205	T	0.20904513	0.43160	0.22426699	0.47334	0.1692738	0.37434	0.22426699	0.47333	-8.391	0.63706	D	0.17402584612734787	0.22079	0.393	0.59154	A	.;.	.;.	2.435564	0.31337	18.71	0.95146885324006125	0.26275	0.88612	0.48621	D	AEFBI	0.389010	0.46840	N	0.333328892564379	0.57866	3.955811	0.353611375921179	0.58726	4.044871	0.999978882987503	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	4.89	0.63387	1.362000	0.33752	-0.143000	0.11497	0.665000	0.62972	1.000000	0.71638	0.758000	0.26602	0.998000	0.85391	0.0:0.0663:0.0:0.9337	12.169	0.53452	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1204.33	35	chr18	31354317	.	T	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=688;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.092;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr18	31354330	31354330	C	T	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.C2134T:p.R712C	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	715931	not_provided|DSG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.551	0.055254717874	0.0005	0.00119808	0.0017	0.0007	0.0095	0.0040	0.0005	0.0006	0	0.0006	0.0015459	239	154602	rs149191001	0.0011	0.0011	0.0012	0.0010	0.0080	0.0011	0.0011	0.0073	0.0071	0.0003	0.0080	3.826e-05	0.0026	0.0006	0.0005	0.0009	0.0008	0.0007	0.0012	0.0012	0.0011	0.0012	0.0043	0.0010	0.0010	0.0029	0.0024	0.0005	0	0.0031	0	0.0043	0.0012	0	0.0010	0.0019	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	0.999993	0.58761	D	2.285	0.65182	M	-1.06	0.76819	T	-5.6	0.86608	D	0.594	0.80572	0.193	0.85781	D	0.587	0.85184	D	10	0.011037976	0.00243	T	0.055255	0.66166	D	0.551	0.81427	.	.	0.925294171032	0.92453	0.6892350143534115	0.68863	0.488873001158	0.47673	0.676832437515	0.63816	T	0.214893	0.57661	T	0.0217508	0.54617	T	0.265148	0.86335	D	0.0434598145851397	0.04322	T	0.933007	0.74900	D	0.79619676	0.83664	0.7688245	0.86348	0.8042928	0.84183	0.76486576	0.86111	-7.291	0.56131	T	0.5462089648290672	0.61530	0.355	0.56895	A	.;.	.;.	5.270927	0.88506	29.6	0.9718009208284738	0.32718	0.90315	0.51393	D	AEFBI	0.493909	0.52993	N	0.70649537951855	0.80060	7.210943	0.705178510884434	0.82773	7.850554	0.999718568556344	0.42101	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	5.1	0.68917	3.349000	0.51931	6.069000	0.53240	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.1875:0.8125:0.0:0.0	17.227	0.86856	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1504.33	35	chr18	31354330	.	C	T	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.691;DP=757;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.072;SOR=0.964	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	18	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.05263	2856.83	33	chr18	31403566	.	C	T	2856.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.056;DP=829;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.073;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1306	17	0	2	0
chr18	31531146	31531146	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1174A:p.V392I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1517	4	1	0	6	0.00197368	.	.	.	44673	not_specified|Arrhythmogenic_right_ventricular_dysplasia_10|Cardiovascular_phenotype|not_provided|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MedGen:CN230736|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.0286381861361	0.0016	0.000998403	0.0026	0.0010	0.0009	0	0.0008	0.0026	0	0.0067	0.0023609	365	154602	rs193922639	0.0027	0.0027	0.0026	0.0029	0.0062	0.0027	0.0026	0.0058	0.0056	0.0003	0.0005	0.0003	2.52e-05	0.0013	0.0009	0.0029	0.0020	0.0062	0.0016	0.0016	0.0017	0.0016	0.0044	0.0015	0.0014	0.0029	0.0025	0.0005	0	0.0013	0.0006	0	0.0010	0	0.0025	0.0009	0.0044	0.017	0.51248	D	0.032	0.53426	D	0.008	0.14655	B	0.001	0.04355	B	0.513255	0.11821	N	0.755207	2.52039e-11	0.08975	A	1.4	0.35362	L	0.11	0.61208	T	-0.51	0.15986	N	0.082	0.05799	-0.9993	0.30115	T	0.135	0.44991	T	10	0.07768899	0.12293	T	0.028638	0.51283	D	0.270	0.58507	.	.	0.348764635752	0.34483	0.2786330033912825	0.27776	0.0594757320716	0.06608	0.28312844038	0.07932	T	0.11102	0.42619	T	-0.341905	0.05257	T	-0.261288	0.48697	T	0.00925711520683124	0.00117	T	0.477152	0.14354	T	0.071468465	0.15825	0.07249403	0.15646	0.13114479	0.30578	0.06776705	0.14065	-4.438	0.30069	T	0.12260084806637125	0.11769	0.071	0.03736	B	.	.	1.558996	0.19974	14.53	0.96072640660401998	0.28629	0.00654	0.02841	N	AEFBI	0.020959	0.00882	N	-1.0044234640247	0.08511	0.3993598	-1.03344473110969	0.09055	0.4484227	0.0759715167484184	0.15713	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.02	0.985	0.18897	1.676000	0.37181	2.155000	0.30939	-0.272000	0.06708	0.002000	0.15269	0.001000	0.17328	0.018000	0.11154	0.722:0.0:0.1495:0.1285	5.433	0.15765	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1477.33	40	chr18	31531146	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=762;ExcessHet=0;FS=1.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.14;SOR=0.878	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr18	31536375	31536375	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon11:c.G1597A:p.V533I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	1	1517	3	1	0	5	0.00164528	.	.	.	245257	Arrhythmogenic_right_ventricular_dysplasia_10|Cardiovascular_phenotype|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.017086688745	8.3e-05	0.000199681	0.0003	0.0002	0.0002	0.0033	0	6.003e-05	0.0011	0.0001	0.0002587	40	154602	rs199761749	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0003	0.0002	3.826e-05	0.0043	3.746e-05	0.0002	5.845e-05	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0023	9.145e-05	7.701e-05	0.0013	0.0010	4.815e-05	0	6.535e-05	0	0.0023	0	0	5.881e-05	0.0009	0	0.578	0.06030	T	0.87	0.03314	T	0.073	0.24078	B	0.008	0.13708	B	0.041283	0.23965	N	0.352028	0.999997	0.08975	N	0.055	0.08163	N	0.49	0.55775	T	-0.11	0.08653	N	0.029	0.00666	-1.0983	0.04303	T	0.093	0.35498	T	10	0.0049951375	0.00107	T	0.017087	0.38644	T	0.082	0.23913	.	.	0.194818534648	0.19098	0.2455775906490049	0.24471	0.0600646549258	0.06680	0.27642005682	0.06999	T	0.116419	0.43575	T	-0.631891	0.00093	T	-0.685682	0.06642	T	0.00163292632988357	0.00017	T	0.675032	0.28342	T	0.04313335	0.06669	0.04012004	0.04263	0.04313335	0.06669	0.04012004	0.04263	-3.633	0.18335	T	0.06186461213943439	0.01796	0.067	0.02578	B	.	.	0.163329	0.05536	1.995	0.8030584226696561	0.13141	0.01476	0.04917	N	AEFBHI	0.046662	0.07772	N	-1.19878195485836	0.05019	0.2278236	-1.24210282182283	0.05249	0.249651	0.885863125386524	0.25728	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.89	-2.89	0.05326	0.025000	0.13469	-0.680000	0.07891	-0.106000	0.15538	0.002000	0.15269	0.000000	0.08366	0.570000	0.30651	0.3985:0.0:0.6015:0.0	12.643	0.56083	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1360.33	33	chr18	31536375	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.022;DP=732;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.167;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:41,15:66:50:50,0,752	2	0	16	1
chr18	31546136	31546136	C	T	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon15:c.C2750T:p.A917V	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1521	1	0	0	1	0.000328623	.	.	YES	198002	Arrhythmogenic_right_ventricular_dysplasia_10|Dilated_cardiomyopathy_1BB|not_specified|Cardiomyopathy	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MONDO:MONDO:0013030,MedGen:C2752072,OMIM:612877,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0317005375861	.	.	0.0002	0	0	0	0	1.502e-05	0	0.0013	0.0001423	22	154602	rs775670183	8.414e-05	8.414e-05	4.22e-05	0.0001	0.0013	7.203e-05	6.75e-05	0.0011	0.0011	0	0	0	2.519e-05	0	0	6.295e-06	0	0.0013	5.255e-05	5.25e-05	3.857e-05	6.716e-05	0.0012	2.556e-05	1.83e-05	0.0005	0.0004	4.814e-05	0	0	0	0	0	0	0	0	0.0012	0.155	0.24183	T	0.212	0.26549	T	0.008	0.14655	B	0.001	0.04355	B	0.424145	0.12832	N	0.714184	1	0.08975	N	0.46	0.12951	N	-1.06	0.76819	T	-0.81	0.22294	N	0.026	0.00527	-0.9446	0.41879	T	0.220	0.58319	T	10	0.010324627	0.00230	T	0.031701	0.53716	D	0.094	0.27141	.	.	0.690292029307	0.68763	0.2487530672569336	0.24789	0.0708596356974	0.07944	0.238906860352	0.02693	T	0.135974	0.46809	T	-0.535791	0.00355	T	-0.592844	0.13421	T	0.0202981674675794	0.00730	T	0.465053	0.13602	T	0.016640255	0.00212	0.036278926	0.03042	0.016640255	0.00211	0.036278926	0.03042	-3.293	0.13647	T	0.0937069121629194	0.06193	0.080	0.07889	B	.	.	2.142992	0.27288	17.41	0.93338627726445933	0.23068	0.11519	0.16688	N	AEFBI	.	.	.	-0.945738660506951	0.09789	0.4648308	-0.894383993555009	0.12226	0.6276811	0.730943442897407	0.23044	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	4.9	2.13	0.26445	0.315000	0.19200	0.482000	0.18815	-0.182000	0.10109	0.135000	0.23427	0.000000	0.08366	0.931000	0.46843	0.1014:0.5019:0.2678:0.1289	4.750	0.12432	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2850.33	34	chr18	31546136	.	C	T	2850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=1063;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.02;SOR=0.566	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,107,1250	18	0	1	0
chr18	31630980	31630980	T	C	exonic	B4GALT6	.	nonsynonymous SNV	B4GALT6:NM_001330570:exon5:c.A638G:p.K213R,B4GALT6:NM_001378110:exon5:c.A215G:p.K72R,B4GALT6:NM_001378109:exon6:c.A623G:p.K208R,B4GALT6:NM_004775:exon6:c.A755G:p.K252R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.020717344723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.037	0.53426	D	0.992	0.64738	D	0.869	0.61749	P	0.000117	0.50451	D	0.135259	0.999992	0.58761	D	1.435	0.35949	L	1.38	0.34050	T	-1.04	0.28084	N	0.799	0.80083	-0.8464	0.52215	T	0.168	0.50681	T	10	0.7261414	0.73986	D	0.020717	0.43370	T	0.252	0.56159	0.621	0.75576	0.490693190711	0.48701	0.7602650048296395	0.75974	0.540215223848	0.51221	0.831728339195	0.86827	D	0.580492	0.86255	D	0.110458	0.65400	D	-0.079111	0.64970	T	0.868011295795441	0.51800	D	0.937406	0.79148	D	0.16476452	0.36705	0.13423325	0.32170	0.16476452	0.36705	0.13423325	0.32169	-4.722	0.34928	T	.	.	0.111	0.23005	B	.;.;.	.;.;.	4.980473	0.82498	27.8	0.99900504767809639	0.97275	0.97986	0.78653	D	AEFGBI	0.914725	0.87849	D	0.657241612038967	0.76838	6.56094	0.685431561639513	0.81273	7.488094	0.999999999999952	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	7.991000	0.87898	6.173000	0.54519	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.899	0.79140	713	0.56348	Galactosyltransferase, C-terminal;Galactosyltransferase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1165.33	35	chr18	31630980	.	T	C	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.482;DP=722;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.065;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	18	0	1	0
chr18	32213276	32213276	G	A	exonic	MEP1B	.	stopgain	MEP1B:NM_001308171:exon11:c.G1296A:p.W432X,MEP1B:NM_005925:exon11:c.G1296A:p.W432X	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs199912683	0.0001	0.0001	0.0001	0.0001	0.0005	9.941e-05	9.349e-05	0.0001	9.97e-05	2.987e-05	2.236e-05	0	0	0	0.0005	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.09e-05	5.747e-05	7.296e-05	5.089e-05	7.221e-05	0	0	0	0	0	0.0102	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.304	0.37509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444577	0.92236	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.305593	0.99686	46	0.99733008458778205	0.82904	0.99347	0.94827	D	AEFI	0.373356	0.45866	N	0.987547811739389	0.95348	13.53538	0.880639360897756	0.94672	12.94783	0.999999999998066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	11.882000	0.98861	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	20.101	0.97871	830	0.39242	MATH/TRAF domain|MATH/TRAF domain;MATH/TRAF domain|MATH/TRAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2921.33	35	chr18	32213276	.	G	A	2921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=865;ExcessHet=0;FS=1.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.24;SOR=0.588	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	18	0	1	0
chr18	32217080	32217080	G	A	exonic	MEP1B	.	nonsynonymous SNV	MEP1B:NM_001308171:exon13:c.G1849A:p.G617S,MEP1B:NM_005925:exon13:c.G1849A:p.G617S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.750	0.312835784679	0.0004	0.000399361	0.0002	0	0	0	0.0002	0.0002	0	0.0010	0.0002199	34	154602	rs191558431	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	2.987e-05	0.0001	0	0	0	0.0003	0.0001	9.938e-05	0.0014	9.856e-05	9.845e-05	0.0001	8.065e-05	0.0002	6.006e-05	4.88e-05	0.0001	0.0001	0	0	0	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.095842	1	0.81001	D	3.61	0.93830	H	-4.14	0.96772	D	-4.36	0.76980	D	0.875	0.90025	1.075	0.98716	D	0.955	0.98531	D	10	0.7503739	0.75592	D	0.312836	0.91238	D	0.750	0.91413	.	.	0.963969903436	0.96358	0.9538641150886112	0.95370	0.532633583879	0.50717	0.554287433624	0.46462	T	0.64496	0.89156	D	0.213098	0.75123	D	0.482884	0.94269	D	0.753024518489838	0.43454	D	0.832317	0.50011	T	0.79264605	0.83439	0.7133911	0.83088	0.79264605	0.83440	0.7133911	0.83089	-12.141	0.85531	D	.	.	0.284	0.54056	B	.;.	.;.	4.928929	0.81244	27.5	0.99784511821863653	0.87131	0.99505	0.96840	D	AEFBI	0.935166	0.92962	D	0.817529109677854	0.87189	9.132944	0.704149715627983	0.82694	7.830889	0.999999990101888	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	8.929000	0.92399	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:1.0:0.0	20.665	0.99682	841	0.37094	EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1659.33	33	chr18	32217080	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=823;ExcessHet=0;FS=1.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.66;SOR=0.56	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1353	18	0	1	0
chr18	33346276	33346276	A	G	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.T593C:p.I198T,CCDC178:NM_001308126:exon9:c.T593C:p.I198T,CCDC178:NM_001371120:exon9:c.T593C:p.I198T,CCDC178:NM_001371121:exon9:c.T593C:p.I198T,CCDC178:NM_198995:exon9:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0261056520105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.713e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.311	0.19660	T	0.902	0.59353	P	0.602	0.58796	P	.	.	.	.	0.999998	0.58761	D	2.295	0.65404	M	1.97	0.22881	T	-2.42	0.57275	N	0.698	0.70878	-0.7764	0.56504	T	0.248	0.61739	T	9	0.48777482	0.60810	T	0.026106	0.49041	D	0.205	0.49236	0.341	0.33302	0.298403945805	0.29456	0.05798785686706267	0.05739	0.140614320253	0.15858	0.639569044113	0.58502	T	0.054511	0.29746	T	-0.0764447	0.40293	T	-0.347584	0.39483	T	0.661568875744033	0.38965	D	0.761624	0.40735	T	0.15347572	0.34787	0.33184472	0.59039	0.15347572	0.34786	0.33184472	0.59039	-5.092	0.38646	T	.	.	0.518	0.70398	A	.;.;.;.;.;.	.;.;.;.;.;.	3.290769	0.45128	22.1	0.56288752279565435	0.05520	0.67819	0.33572	D	AEFI	0.590453	0.58694	D	0.165334724824278	0.49541	3.153272	0.0797987663951845	0.43535	2.653175	0.0172036423084352	0.12924	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.915000	0.69704	11.043000	0.85201	0.756000	0.94297	0.890000	0.31197	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	13.292	0.59709	780	0.47616	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	74.33	33	chr18	33346276	.	A	G	74.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.286;DP=1065;ExcessHet=0;FS=130.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.94;SOR=9.149	GT:AD:DP:GQ:PL	0/0:61,0:61:95:0,95,1366	18	0	1	0
chr18	33745925	33745925	C	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.C6077G:p.P2026R	Bainbridge-Ropers syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0723847958169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.408e-06	1.368e-06	1.394e-06	1.422e-06	3.043e-05	2.3e-07	9e-08	.	.	3.043e-05	0	0	0	0	0	9.152e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.206	0.27056	T	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	0.783268	0.29309	N	0.55	0.14455	N	2.06	0.20523	T	-0.32	0.12283	N	0.326	0.36674	-1.0362	0.18481	T	0.033	0.14247	T	9	0.1398615	0.26589	T	0.072385	0.71517	D	0.069	0.20116	0.282	0.23801	0.0675242888579	0.06100	0.32253294052100173	0.32166	0.538583285751	0.51112	0.784323096275	0.79581	T	0.013178	0.11445	T	-0.205281	0.20049	T	-0.532649	0.19023	T	0.183662279087052	0.19463	T	0.491951	0.15143	T	0.031344786	0.02959	0.060401343	0.11497	0.031344786	0.02958	0.060401343	0.11497	-9.405	0.70266	D	.	.	0.267	0.50129	B	.	.	3.360203	0.46386	22.3	0.89558497364426415	0.18900	0.89112	0.49384	D	AEFBI	0.323439	0.42563	N	-0.675851863641212	0.16711	0.853804	-0.535022064592701	0.21204	1.146003	0.991895004713699	0.32646	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.99	4.11	0.47350	2.508000	0.45111	3.491000	0.38715	0.597000	0.34315	0.929000	0.32243	0.989000	0.31174	0.530000	0.29707	0.0:0.8162:0.1838:0.0	11.352	0.48835	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1963.33	42	chr18	33745925	.	C	G	1963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=1.23;SOR=0.641	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr18	34864049	34864049	T	C	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001198943:exon7:c.T719C:p.M240T,DTNA:NM_032981:exon7:c.T515C:p.M172T,DTNA:NM_001198944:exon8:c.T605C:p.M202T,DTNA:NM_032980:exon8:c.T593C:p.M198T,DTNA:NM_001198942:exon10:c.T776C:p.M259T,DTNA:NM_001198945:exon10:c.T899C:p.M300T,DTNA:NM_001198941:exon14:c.T1469C:p.M490T,DTNA:NM_001198938:exon15:c.T1469C:p.M490T,DTNA:NM_001198939:exon15:c.T1469C:p.M490T,DTNA:NM_001198940:exon15:c.T1469C:p.M490T,DTNA:NM_001390:exon16:c.T1649C:p.M550T,DTNA:NM_001391:exon16:c.T1649C:p.M550T,DTNA:NM_032975:exon16:c.T1478C:p.M493T,DTNA:NM_032978:exon16:c.T1640C:p.M547T,DTNA:NM_032979:exon16:c.T1478C:p.M493T	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0790784440192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	1.368e-06	0	1.38e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.008	0.76473	D	0.984	0.60733	D	0.917	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	2.08	0.24472	T	-5.6	0.87380	D	0.78	0.87590	-0.8824	0.49569	T	0.149	0.47610	T	10	0.6974919	0.72236	D	0.079078	0.73152	D	0.410	0.72176	0.13	0.03494	0.606965515249	0.60381	0.6010981215675525	0.60040	1.11560658413	0.78161	0.905379951	0.97015	D	0.828309	0.95874	D	0.262153	0.79727	D	0.138788	0.79466	D	0.996301151428091	0.89073	D	0.987934	0.95926	D	0.8158216	0.84940	0.8286825	0.90100	0.8158216	0.84941	0.8286825	0.90100	-13.741	0.95652	D	0.6592513496974028	0.73248	0.977	0.98907	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.794952	0.77846	26.8	0.99222688226122646	0.55963	0.98325	0.81646	D	AEFI	0.938590	0.93800	D	0.808147112687593	0.86614	8.941913	0.804636573510507	0.90113	10.26226	0.999999999941133	0.74766	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.86	5.86	0.93936	8.008000	0.88114	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.245	0.82265	839	0.37672	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	901.33	39	chr18	34864049	.	T	C	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.799;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.21;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1324	18	0	1	0
chr18	35245318	35245318	G	A	exonic	ZNF397	.	nonsynonymous SNV	ZNF397:NM_001135178:exon4:c.G613A:p.G205R,ZNF397:NM_032347:exon4:c.G613A:p.G205R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00374509265083	.	.	3.61e-05	0	0	0	0	3.303e-05	0	0.0001	2.59e-05	4	154602	rs771727180	9.586e-06	9.577e-06	4.086e-06	1.515e-05	8.14e-05	5.56e-06	4.35e-06	3.775e-05	2.668e-05	2.99e-05	0	0	0	0	0	4.5e-06	1.657e-05	8.14e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.327	0.13262	T	0.516	0.10607	T	0.001	0.12996	B	0.001	0.11217	B	0.297523	0.14657	N	0.507228	0.999998	0.22008	N	1.385	0.34509	L	3.32	0.06214	T	0.44	0.15986	N	0.053	0.04913	-0.9311	0.43977	T	0.012	0.04605	T	10	0.03842622	0.02260	T	0.003745	0.08682	T	0.023	0.04649	0.254	0.19378	0.0884992946249	0.08302	0.11167164576779066	0.11096	0.177570540165	0.19976	0.22945459187	0.01928	T	0.017366	0.14179	T	-0.45424	0.01066	T	-0.708114	0.05394	T	0.0330106584098204	0.02473	T	0.616838	0.30396	T	0.031038122	0.02873	0.04221302	0.04976	0.031038122	0.02873	0.04221302	0.04976	-4.381	0.29298	T	.	.	0.098	0.16843	B	.;.	.;.	1.581301	0.20234	14.65	0.55503892279651945	0.05356	0.20818	0.21180	N	AEFBI	0.062570	0.12037	N	-0.888314433262785	0.11120	0.5349288	-0.867893399137398	0.12858	0.6638616	0.995350723255426	0.34082	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.56	1.66	0.23081	1.976000	0.40202	1.976000	0.30011	0.606000	0.46413	0.124000	0.23245	0.006000	0.19429	0.982000	0.59238	0.2605:0.0:0.7395:0.0	6.926	0.23598	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	37	chr18	35245318	.	G	A	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.661;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1099	18	0	1	0
chr18	35977449	35977449	C	G	exonic	C18orf21	.	nonsynonymous SNV	C18orf21:NM_001201474:exon3:c.C76G:p.H26D,C18orf21:NM_001201475:exon3:c.C76G:p.H26D,C18orf21:NM_031446:exon4:c.C340G:p.H114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00726539805912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.12109	T	0.478	0.11968	T	0.002	0.09854	B	0.004	0.10090	B	0.940114	0.07589	N	1.023970	0.999826	0.20203	N	1.65	0.42232	L	1.02	0.41058	T	-3.54	0.68651	D	0.213	0.26475	-0.9963	0.30946	T	0.073	0.29675	T	10	0.079208225	0.12715	T	0.007265	0.19253	T	0.198	0.48105	0.309	0.28128	0.221019684889	0.21715	0.41231839138453236	0.41147	0.190790680271	0.21393	.	.	.	0.052912	0.32640	T	-0.0385222	0.46169	T	-0.293111	0.45447	T	0.0961648653125381	0.11929	T	0.513749	0.17252	T	0.08979752	0.20993	0.10306052	0.24718	0.08979752	0.20993	0.10306052	0.24718	-5.19	0.38840	T	.	.	0.152	0.33732	B	.;.;.;.;.	.;.;.;.;.	1.910059	0.24259	16.33	0.97096931830068212	0.32349	0.22208	0.21668	N	AEFBI	0.056668	0.10495	N	-0.564217537905041	0.20040	1.053501	-0.450026165973804	0.23548	1.284739	0.990050113550264	0.32023	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	1.42	0.21524	-0.109000	0.10810	-0.549000	0.08539	0.599000	0.40250	0.567000	0.27481	0.000000	0.08366	0.996000	0.76049	0.1605:0.4375:0.3121:0.09	3.545	0.07379	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2124.33	41	chr18	35977449	.	C	G	2124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.115;DP=767;ExcessHet=0;FS=1.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.365;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	18	0	1	0
chr18	35977527	35977527	C	T	exonic	C18orf21	.	nonsynonymous SNV	C18orf21:NM_001201474:exon3:c.C154T:p.P52S,C18orf21:NM_001201475:exon3:c.C154T:p.P52S,C18orf21:NM_031446:exon4:c.C418T:p.P140S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0360640217746	0.0008	0.000798722	0.0004	0.0038	0.0003	0	0	0	0	0	0.0003234	50	154602	rs148863953	9.919e-05	0.0001	0.0001	8.388e-05	0.0036	8.578e-05	8.047e-05	0.0031	0.0029	0.0036	0.0002	0	0	0	0	2.698e-06	0.0002	0	0.0010	0.0010	0.0008	0.0011	0.0033	0.0008	0.0008	0.0029	0.0027	0.0033	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.011	0.55530	D	0.022	0.57587	D	0.983	0.60381	D	0.808	0.58514	P	0.000001	0.84330	D	0.056055	0.999553	0.20991	N	2.7	0.79018	M	0.31	0.59449	T	-6.39	0.91141	D	0.29	0.37093	-0.6697	0.61842	T	0.312	0.68237	T	10	0.0075356364	0.00171	T	0.036064	0.56753	D	0.170	0.43303	.	.	0.462809833587	0.45907	0.5279176738916032	0.52715	0.528953778079	0.50459	.	.	.	0.273109	0.65198	T	-0.354214	0.04468	T	-0.282101	0.46588	T	0.125690409923586	0.14978	T	0.760024	0.38453	T	0.28671575	0.51686	0.2792887	0.53896	0.28671575	0.51686	0.2792887	0.53895	-5.21	0.39043	T	.	.	0.113	0.24700	B	.;.;.;.;.	.;.;.;.;.	2.980231	0.39752	21.0	0.99578836371827351	0.72861	0.59935	0.31053	D	AEFBI	0.118295	0.23137	N	-0.0906140800922053	0.37802	2.20469	-0.261630785578034	0.29374	1.645137	0.998818843764292	0.37733	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	3.7	0.41607	2.193000	0.42291	1.275000	0.25315	-0.224000	0.07868	0.902000	0.31475	0.339000	0.24413	0.058000	0.15825	0.1619:0.6823:0.1558:0.0	9.45	0.37885	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1602.33	41	chr18	35977527	.	C	T	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.996;DP=803;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.21;SOR=0.879	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	18	0	1	0
chr18	36126272	36126272	C	T	exonic	SLC39A6	.	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G736A:p.E246K	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0114966959043	0.0030	0.000798722	0.0018	0.0004	0.0009	0	0.0002	0.0027	0.0044	0.0012	0.002044	316	154602	rs117497867	0.0024	0.0024	0.0024	0.0023	0.0040	0.0023	0.0023	0.0027	0.0027	0.0005	0.0011	0.0017	0	0.0004	0.0040	0.0028	0.0022	0.0007	0.0020	0.0020	0.0021	0.0019	0.0034	0.0018	0.0017	0.0030	0.0029	0.0006	0.0044	0.0012	0.0017	0	0.0009	0	0.0034	0.0024	0.0010	0.026	0.46910	D	0.451	0.12920	T	0.488	0.36905	P	0.108	0.31289	B	0.003252	0.35212	N	0.189234	0.910305	0.81001	D	1.445	0.36358	L	1.98	0.21865	T	-0.59	0.17624	N	0.775	0.77413	-1.1055	0.03486	T	0.036	0.15596	T	10	0.021119297	0.00499	T	0.011497	0.29187	T	0.130	0.35528	.	.	0.357313475932	0.35345	0.5273601260192872	0.52660	0.123043681078	0.13866	0.501556277275	0.39045	T	0.025342	0.18971	T	-0.171174	0.25055	T	-0.0163217	0.69271	D	0.0136622601592934	0.00254	T	0.871513	0.57764	D	0.19819176	0.41713	0.105855905	0.25455	0.19819176	0.41712	0.105855905	0.25454	-3.97	0.23353	T	.	.	0.091	0.13268	B	.;.	.;.	3.736871	0.53487	23.4	0.99802658814713141	0.88728	0.91970	0.54658	D	AEFBCI	0.662399	0.63228	D	0.0490367337468013	0.44097	2.690125	0.229083568283562	0.51469	3.329037	0.999999997395298	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	4.704000	0.61519	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78420	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3082.83	45	chr18	36126272	.	C	T	3082.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.715;DP=847;ExcessHet=0.119;FS=7.173;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.399;SOR=1.116	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	17	0	2	0
chr18	36174544	36174544	A	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.A2174G:p.E725G,ELP2:NM_001242878:exon20:c.A2174G:p.E725G,ELP2:NM_001242876:exon21:c.A2369G:p.E790G,ELP2:NM_001242877:exon21:c.A2306G:p.E769G,ELP2:NM_001324465:exon21:c.A2252G:p.E751G,ELP2:NM_001324467:exon21:c.A2234G:p.E745G,ELP2:NM_001324468:exon21:c.A1937G:p.E646G,ELP2:NM_001324466:exon22:c.A2501G:p.E834G,ELP2:NM_018255:exon22:c.A2384G:p.E795G,ELP2:NM_001242875:exon23:c.A2579G:p.E860G	Mental retardation, autosomal recessive 58, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0002	0.0295527	0.0118	0.0003	0.0078	0.1436	0.0009	0.0004	0.0156	0.0025	0.0110671	1711	154602	rs12607773	0.0046	0.0046	0.0047	0.0045	0.1345	0.0045	0.0045	0.1315	0.1303	0.0002	0.0059	0.0023	0.1345	0.0008	0.0005	0.0002	0.0090	0.0030	0.0055	0.0055	0.0049	0.0060	0.1310	0.0051	0.0050	0.1228	0.1196	0.0001	0	0.0043	0.0023	0.1310	0.0012	0	0.0003	0.0061	0.0056	0.402	0.10553	T	0.345	0.17750	T	0.001	0.09854	B	0.002	0.10090	B	0.012741	0.29068	N	0.398618	0.86919	0.28234	N	0.145	0.08828	N	0.25	0.59449	T	0.78	0.02404	N	0.075	0.07949	-1.1012	0.03949	T	0.001	0.00188	T	10	0.0016205311	0.00019	T	.	.	.	0.072	0.21020	.	.	.	.	0.29945366450394406	0.29858	0.0929261521054	0.10492	0.32894846797	0.14776	T	0.00497	0.04396	T	-0.547735	0.00301	T	-0.441428	0.28648	T	0.0226333583435455	0.00980	T	0.789121	0.42899	T	0.050401565	0.09101	0.038881287	0.03856	0.03925867	0.05385	0.038881287	0.03856	-4.247	0.32658	T	.	.	0.068	0.03128	B	.;.;.;.;.;.	.;.;.;.;.;.	0.841370	0.12131	8.681	0.70364481209777063	0.09271	0.69680	0.34284	D	AEFBI	0.254493	0.37380	N	-0.674554711475834	0.16748	0.856064	-0.499690574680858	0.22163	1.202426	0.999997760591399	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.7	0.58776	2.923000	0.48565	3.919000	0.40458	0.691000	0.84096	1.000000	0.71638	0.993000	0.31925	0.307000	0.24666	0.775:0.0:0.225:0.0	4.513	0.11327	848	0.35897	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	559.33	34	chr18	36174544	.	A	G	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=1.09;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr18	36205158	36205158	A	G	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.A1100G:p.N367S	Xanthinuria, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2104815	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0191336769657	.	.	6.59e-05	0	0	0	0	7.492e-05	0	0.0002	5.17e-05	8	154602	rs764235872	1.984e-05	1.984e-05	1.362e-05	2.613e-05	0.0002	1.392e-05	1.204e-05	9.792e-05	7.839e-05	0	0	0	2.519e-05	0	0	1.26e-05	0	0.0002	6.577e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.107	0.37730	T	0.873	0.47975	P	0.687	0.53665	P	0.000000	0.84330	D	0.046469	0.977321	0.39356	D	2.135	0.59519	M	2.05	0.20664	T	-4.37	0.77061	D	0.249	0.28146	-1.0141	0.25625	T	0.099	0.37034	T	10	0.5387493	0.63597	D	0.019134	0.41408	T	0.195	0.47612	0.768	0.89530	0.442261297928	0.43845	0.8418297127309881	0.84142	0.218659089246	0.24407	0.333070397377	0.15397	T	0.484	0.81179	T	-0.406878	0.02085	T	-0.58556	0.14053	T	0.67414927482605	0.39523	D	0.835616	0.50622	T	0.25037003	0.48038	0.26019365	0.51779	0.25037003	0.48038	0.26019365	0.51778	-5.089	0.37791	T	0.21427531210454548	0.28787	0.070	0.03301	B	.	.	2.100292	0.26722	17.22	0.98550789301890251	0.42846	0.91960	0.54637	D	AEFDBCI	0.581879	0.58172	D	0.297097000557823	0.56003	3.764335	0.22455583213919	0.51212	3.305823	0.999999981557522	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.89	4.73	0.59485	4.382000	0.59360	1.359000	0.25866	0.743000	0.86499	1.000000	0.71638	0.109000	0.22772	0.219000	0.22435	0.9215:0.0:0.0785:0.0	10.109	0.41723	838	0.37812	Aminotransferase class V domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2510.33	182	chr18	36205158	.	A	G	2510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=3610;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.581;SOR=0.692	GT:AD:DP:GQ:PL	0/0:176,0:176:99:0,120,1800	18	0	1	0
chr18	36594791	36594791	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon7:c.G611A:p.R204H,FHOD3:NM_001281740:exon7:c.G611A:p.R204H,FHOD3:NM_025135:exon7:c.G611A:p.R204H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.0495575362514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755389941	4.794e-06	8.209e-06	2.726e-06	6.884e-06	2.992e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.992e-05	0	0	2.522e-05	0	0	3.601e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999966	0.81001	D	2.64	0.77224	M	1.72	0.26588	T	-4.55	0.78553	D	0.915	0.91736	-0.7082	0.60041	T	0.194	0.54811	T	10	0.82670975	0.81847	D	0.049558	0.63863	D	0.466	0.76156	0.547	0.66156	0.473932634616	0.47021	0.5570391565318509	0.55630	0.754101649937	0.63925	0.711904168129	0.68869	T	0.440222	0.78521	T	0.0216554	0.54604	T	-0.0375417	0.67867	D	0.987776637077332	0.78208	D	0.978652	0.92496	D	0.66213906	0.76013	0.5489056	0.73920	0.66213906	0.76015	0.5489056	0.73921	-11.546	0.82569	D	.	.	0.674	0.78284	P	.;.;.	.;.;.	5.778200	0.93511	33	0.99921523048625582	0.98787	0.98229	0.80739	D	AEFDBI	0.894767	0.83409	D	0.825524876219528	0.87674	9.300533	0.746779517227932	0.85918	8.725458	0.99999999999999	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	9.917000	0.98722	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.0:0.0:1.0:0.0	16.819	0.85603	807	0.43470	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1307.33	37	chr18	36594791	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.456;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr18	36594809	36594809	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon7:c.C629T:p.A210V,FHOD3:NM_001281740:exon7:c.C629T:p.A210V,FHOD3:NM_025135:exon7:c.C629T:p.A210V	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0343945746829	.	.	1.696e-05	0	0	0	0	1.531e-05	0	6.422e-05	1.29e-05	2	154602	rs777319517	1.574e-05	1.71e-05	9.532e-06	2.201e-05	0.0014	1.048e-05	8.76e-06	0.0007	0.0005	0	0	0	0	0	0.0014	8.995e-06	4.969e-05	2.321e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.003	0.76473	D	0.999	0.77913	D	0.803	0.59984	P	0.000315	0.45977	D	0.222358	0.99799	0.81001	D	2.195	0.61839	M	1.78	0.25678	T	-3.41	0.67129	D	0.646	0.66443	-0.8420	0.52513	T	0.163	0.49914	T	10	0.6448403	0.69266	D	0.034395	0.55648	D	0.309	0.63055	.	.	0.319322697148	0.31537	0.5929926008507249	0.59229	0.666451793028	0.59196	0.776412189007	0.78387	T	0.366752	0.73195	T	-0.0466827	0.44949	T	-0.289347	0.45842	T	0.96133828163147	0.66053	D	0.970803	0.89535	D	0.34325874	0.56538	0.27134818	0.53034	0.34325874	0.56538	0.27134818	0.53033	-10.287	0.75612	D	.	.	0.455	0.66012	A	.;.;.	.;.;.	4.237007	0.64207	24.7	0.99907266920222548	0.97726	0.96815	0.71088	D	AEFDBI	0.892230	0.82897	D	0.674371460684084	0.77953	6.775148	0.609482588964125	0.75628	6.344237	0.99999999999999	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	7.840000	0.85068	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.259000	0.23493	0.0:1.0:0.0:0.0	16.819	0.85603	807	0.43470	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1317.33	37	chr18	36594809	.	C	T	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.001;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.14;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	18	0	1	0
chr18	36717857	36717862	TGCAGG	-	exonic	FHOD3	.	nonframeshift deletion	FHOD3:NM_001281739:exon15:c.1983_1988del:p.A662_G663del,FHOD3:NM_025135:exon16:c.2034_2039del:p.A679_G680del,FHOD3:NM_001281740:exon19:c.2559_2564del:p.A854_G855del	.	420	1099	2	1	0	4	0.00181653	.	.	.	3227906	not_provided|Cardiomyopathy,_familial_hypertrophic,_28|not_specified	MedGen:C3661900|MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0020	9.741e-05	0.0002	0	0	9.267e-05	0.0012	0.0204	0.0001921	5	26028	rs573447742	0.0009	0.0009	0.0006	0.0013	0.0132	0.0009	0.0009	0.0126	0.0123	3.039e-05	9.473e-05	0	0	0	0.0027	0.0001	0.0010	0.0132	0.0006	0.0006	0.0004	0.0007	0.0145	0.0005	0.0004	0.0118	0.0108	4.819e-05	0	6.539e-05	0	0.0002	0	0	0.0001	0.0005	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	973.29	66	chr18	36717856	.	ATGCAGG	A	973.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.186;DP=823;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.33;SOR=0.861	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,113,1800	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/0:243,42:285:37:0,37,5918	13	0	6	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	417.83	33	chr18	37067197	.	G	A	417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.579;DP=1883;ExcessHet=0.119;FS=160.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.97;SOR=10.341	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	17	0	2	0
chr18	45038637	45038637	G	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon5:c.G4153T:p.A1385S,SETBP1:NM_001379142:exon5:c.G4153T:p.A1385S,SETBP1:NM_015559:exon5:c.G4153T:p.A1385S	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0141821831964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	0.463	0.12491	T	0.001	0.07471	B	0.004	0.10090	B	0.003732	0.34560	N	0.284575	0.999977	0.18612	N	0	0.06538	N	-0.25	0.67011	T	-0.32	0.12283	N	0.256	0.28965	-1.0304	0.20325	T	0.109	0.39368	T	10	0.035984755	0.01873	T	0.014182	0.34122	T	0.045	0.12272	0.176	0.08257	0.158540857583	0.15491	0.2788893787398859	0.27801	0.235386868159	0.26070	0.351251006126	0.18106	T	0.124271	0.44920	T	-0.171408	0.25022	T	-0.483992	0.24022	T	0.0577300861477852	0.06807	T	0.676632	0.28519	T	0.028133338	0.02105	0.048564192	0.07240	0.028133338	0.02104	0.048564192	0.07240	-3.059	0.10831	T	0.056524919561080425	0.01318	0.072	0.04356	B	.;.	.;.	1.119960	0.15057	11.55	0.4873317164918034	0.04091	0.09117	0.14936	N	AEFBI	0.034514	0.04287	N	-0.98722413135763	0.08875	0.4178742	-0.867098705567318	0.12877	0.6649477	0.0130070570547366	0.12403	0.562547	0.31514	0	0.653731	0.59785	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.84	3.03	0.34070	0.796000	0.26646	5.723000	0.49481	-0.123000	0.13640	0.331000	0.25598	1.000000	0.68203	0.224000	0.22571	0.1362:0.0:0.5807:0.2831	7.104	0.24535	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	37	chr18	45038637	.	G	T	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.333;DP=745;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.878;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr18	45063305	45063305	G	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon6:c.G4398T:p.E1466D,SETBP1:NM_001379142:exon6:c.G4398T:p.E1466D,SETBP1:NM_015559:exon6:c.G4398T:p.E1466D	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	0	1456	61	5	0	71	0.0238015	.	.	.	169434	not_specified|not_provided|Schinzel-Giedion_syndrome|Intellectual_disability,_autosomal_dominant_29	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798|MONDO:MONDO:0014482,MedGen:C4015141,OMIM:616078,Orphanet:436151	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0065	0.0173722	0.0176	0.0132	0.0149	0.0329	0.0069	0.0073	0.0383	0.0509	0.0109442	1692	154602	rs117498128	0.0084	0.0085	0.0075	0.0094	0.0399	0.0083	0.0083	0.0388	0.0383	0.0096	0.0066	0.0131	0.0187	0.0041	0.0293	0.0055	0.0118	0.0399	0.0082	0.0082	0.0079	0.0084	0.0404	0.0078	0.0076	0.0358	0.0340	0.0094	0	0.0084	0.0130	0.0225	0.0032	0.0272	0.0044	0.0109	0.0404	0.084	0.32929	T	0.104	0.38160	T	0.0	0.02946	B	0.004	0.10090	B	0.000019	0.62929	N	0.065506	0.91486	0.27426	N	0.55	0.14455	N	-0.5	0.70480	T	-0.52	0.16187	N	0.036	0.01068	-0.9544	0.40203	T	0.099	0.36907	T	10	0.0029321015	0.00047	T	.	.	.	0.079	0.23065	0.087	0.00904	.	.	0.3810283839473475	0.38017	1.20063584423	0.80531	0.609025359154	0.54177	T	0.217539	0.58001	T	-0.455748	0.01044	T	-0.398859	0.33517	T	0.0065739363059322	0.00073	T	0.660634	0.26999	T	0.08405434	0.19437	0.08177906	0.18613	0.080357365	0.18408	0.08829835	0.20580	-3.87	0.21854	T	0.1442054072123103	0.16456	0.061	0.01109	B	.;.	.;.	2.656496	0.34597	19.67	0.99168451085546527	0.54326	0.71334	0.34968	D	AEFBCI	0.217990	0.34305	N	-0.236438051980183	0.31649	1.776725	-0.0887524866285267	0.35853	2.079308	0.99988919570613	0.44867	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.16	3.29	0.36801	2.306000	0.43333	7.370000	0.58392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1313:0.1482:0.568:0.1525	3.667	0.07794	891	0.26808	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017659	0.005051	0.019022	0.020468	0.000000	0.035088	0.009202	0.030303	0.02632	3821.33	34	chr18	45063305	.	G	T	3821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=948;ExcessHet=0;FS=0.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.002;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1424	18	0	1	0
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I,SLC14A2:NM_001242692:exon12:c.G1432A:p.V478I,SLC14A2:NM_001371319:exon15:c.G1432A:p.V478I	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	622.33	35	chr18	45663865	.	G	A	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=686;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.075;SOR=0.962	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	18	0	1	0
chr18	45672939	45672939	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon17:c.G2269A:p.G757S,SLC14A2:NM_001242692:exon18:c.G2269A:p.G757S,SLC14A2:NM_001371319:exon21:c.G2269A:p.G757S	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.00559105	0.0033	0.0004	0.0004	0.0001	0.0002	0.0011	0.0088	0.0189	0.0029301	453	154602	rs142459777	0.0020	0.0020	0.0015	0.0025	0.0177	0.0019	0.0019	0.0170	0.0167	0.0003	0.0002	0	5.038e-05	0.0003	0.0005	0.0011	0.0021	0.0177	0.0013	0.0013	0.0011	0.0015	0.0216	0.0011	0.0011	0.0182	0.0170	0.0002	0	0.0003	0	0.0004	0	0	0.0011	0.0005	0.0216	0.033	0.44358	D	0.045	0.49390	D	0.949	0.53761	P	0.685	0.53610	P	0.000255	0.46924	N	0.092755	0.999543	0.49177	D	2.16	0.60381	M	0.74	0.50459	T	-3.97	0.73684	D	0.655	0.66529	-0.6466	0.62861	T	0.238	0.60607	T	10	0.015065521	0.00316	T	.	.	.	0.364	0.68407	.	.	0.48461828368	0.48093	0.9611278262397311	0.96098	0.203956626658	0.22808	0.738605201244	0.72766	T	0.458092	0.79620	T	-0.219505	0.18060	T	-0.0731433	0.65401	T	0.0289260090185013	0.01825	T	.	.	.	0.7970701	0.83719	0.78373677	0.87258	0.7970701	0.83721	0.78373677	0.87259	-11.521	0.82440	D	.	.	0.224	0.46121	B	.;.	.;.	4.516141	0.70766	25.6	0.99779546764078131	0.86606	0.98241	0.80848	D	AEFDGBI	0.936743	0.93351	D	0.582003923542698	0.72054	5.745417	0.575741600888398	0.73207	5.932574	0.999999999833211	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.79	4.92	0.64147	7.778000	0.84271	6.706000	0.56386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0695:0.0:0.9305:0.0	14.644	0.68345	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.015152	0.02632	1619.33	42	chr18	45672939	.	G	A	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.83;DP=840;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.356;SOR=0.6	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1331	18	0	1	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011339	0.000000	0.005865	0.006369	0.055556	0.008929	0.019868	0.031496	0.02632	633.33	34	chr18	45837719	.	G	A	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=701;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.2;SOR=1.211	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr18	45838724	45838724	C	G	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C503G:p.P168R	.	400	1117	4	1	0	6	0.00267857	.	.	.	2818331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.627061634688	.	.	0.0004	0	0.0004	0	0	0.0007	0	0.0002	0.0001682	26	154602	rs200427190	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0	0.0002	4.007e-05	0	2.706e-05	0.0005	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	7.214e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0002	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999855	0.81001	D	3.085	0.87354	M	-1.41	0.84122	T	-5.81	0.88224	D	0.707	0.71055	0.722	0.93447	D	0.768	0.92118	D	10	0.7572001	0.76072	D	0.627062	0.96787	D	0.658	0.87184	0.686	0.82367	0.667001395416	0.66419	0.8473248099259854	0.84693	1.34573443082	0.83979	0.847498416901	0.89237	D	0.146195	0.48369	T	-0.000302729	0.51613	T	0.0779447	0.75441	D	0.685536324977875	0.40042	D	0.776822	0.40920	T	0.72846764	0.79637	0.6072378	0.77163	0.72846764	0.79639	0.6072378	0.77164	-12.594	0.87623	D	.	.	0.954	0.87304	P	.;.	.;.	4.657509	0.74301	26.1	0.99714585300455016	0.81563	0.83481	0.42595	D	AEFDBCI	0.678956	0.64315	D	0.58198810648916	0.72050	5.745275	0.465017630631698	0.65686	4.855407	0.999999999999273	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.603991	0.37454	0	.	.	4.53	4.53	0.55009	5.466000	0.66462	7.500000	0.59476	0.524000	0.24156	0.969000	0.34210	1.000000	0.68203	0.106000	0.18562	0.0:1.0:0.0:0.0	17.055	0.86406	978	0.04198	Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	842.33	66	chr18	45838724	.	C	G	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=638;ExcessHet=0;FS=3.391;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.09;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr18	45910687	45910687	T	G	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon23:c.A4039C:p.N1347H	Vici syndrome, Autosomal recessive	431	1085	6	0	0	6	0.00275735	.	.	.	226970	not_provided|Inborn_genetic_diseases|not_specified|EPG5-related_disorder|Vici_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00378599287711	0.0052	0.00219649	0.0045	0.0015	0.0011	0	0.0077	0.0064	0.0011	0.0022	0.0043984	680	154602	rs144860976	0.0054	0.0054	0.0054	0.0055	0.0062	0.0053	0.0053	0.0061	0.0060	0.0005	0.0011	0.0026	0	0.0067	0.0062	0.0062	0.0049	0.0028	0.0040	0.0040	0.0040	0.0039	0.0063	0.0037	0.0036	0.0058	0.0056	0.0012	0	0.0019	0.0012	0	0.0074	0	0.0063	0.0028	0.0021	0.094	0.31383	T	0.317	0.19304	T	0.001	0.07471	B	0.004	0.10090	B	0.046400	0.23444	N	0.354507	1	0.08975	N	1.7	0.43825	L	2.95	0.09635	T	-1.49	0.36385	N	0.185	0.20129	-1.0243	0.22311	T	0.015	0.05897	T	10	0.0058216155	0.00130	T	0.003786	0.08806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.16672857205692407	0.16592	0.322664122879	0.34451	0.292543947697	0.09293	T	0.012874	0.11238	T	-0.61669	0.00115	T	-0.654883	0.08616	T	0.00909126004577149	0.00114	T	0.648035	0.25918	T	0.12701029	0.29733	0.07799637	0.17428	0.121818244	0.28638	0.07549618	0.16626	-2.765	0.07865	T	0.14168148271615574	0.15961	0.094	0.14431	B	.;.	.;.	2.470374	0.31840	18.86	0.9737178219794107	0.33627	0.38595	0.26023	N	AEFDGBHCI	0.141893	0.26418	N	-0.251781616387913	0.31033	1.736095	-0.0750230974942349	0.36427	2.119707	0.999836030554766	0.43792	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.22	5.22	0.72285	2.300000	0.43280	4.196000	0.42436	0.665000	0.62972	0.642000	0.28102	0.915000	0.28207	0.991000	0.66497	0.0:0.0:0.1541:0.8459	11.156	0.47712	978	0.04198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1354.33	33	chr18	45910687	.	T	G	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.211;DP=764;ExcessHet=0;FS=3.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.555;SOR=0.996	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	18	0	1	0
chr18	45915518	45915518	G	T	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon20:c.C3686A:p.P1229H	Vici syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	247153	Vici_syndrome|not_specified	MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.00987876633563	.	.	8.295e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs778094374	1.233e-05	1.368e-05	8.181e-06	1.652e-05	0.0003	7.71e-06	6.36e-06	6.094e-05	4.044e-05	0	0	0	0	0	0.0003	5.405e-06	1.658e-05	0.0001	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.009	0.57480	D	0.006	0.70582	D	0.963	0.55692	D	0.73	0.55268	P	0.006748	0.31824	N	0.202176	0.999999	0.08975	N	1.5	0.37844	L	2.81	0.10975	T	-2.94	0.61435	D	0.409	0.44952	-1.1253	0.02021	T	0.046	0.19800	T	10	0.4070298	0.55964	T	0.009879	0.25743	T	0.163	0.42028	.	.	0.359357374593	0.35551	0.2818189597564378	0.28094	0.414781725056	0.42146	0.42170599103	0.28072	T	0.135316	0.46706	T	-0.270547	0.11696	T	-0.44487	0.28265	T	0.899830400943756	0.55221	D	0.857114	0.54640	D	0.22345538	0.44967	0.19835201	0.43663	0.22345538	0.44967	0.19835201	0.43662	-4.034	0.24311	T	0.5654884114049941	0.63298	0.143	0.31355	B	.;.	.;.	4.674038	0.74729	26.2	0.99248698822983406	0.56792	0.96586	0.69884	D	AEFBI	0.616738	0.60319	D	0.342041243788195	0.58319	4.003599	0.30992109555854	0.56123	3.77518	0.999933024040073	0.46732	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	6.068000	0.70838	11.738000	0.95134	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:0.0:1.0:0.0	19.421	0.94715	980	0.04108	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1317.33	42	chr18	45915518	.	G	T	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=756;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.405;SOR=0.504	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1331,0,1752	18	0	1	0
chr18	45954978	45954978	C	T	exonic	EPG5	.	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G424A:p.E142K	Vici syndrome, Autosomal recessive	428	1093	1	0	0	1	0.000457247	.	.	YES	647272	Vici_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0009452,MedGen:C1855772,OMIM:242840,Orphanet:1493|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0103505866416	0.0003	0.000199681	0.0002	0	8.64e-05	0	0	0.0003	0	0.0004	0.0002005	31	154602	rs190673127	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.987e-05	8.946e-05	0.0006	0	0	0.0014	7.554e-05	0.0003	0.0006	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.085e-05	5.743e-05	5.841e-05	4.239e-05	2.405e-05	0	0.0001	0.0012	0	0	0	0.0001	0.0005	0.0002	0.324	0.13392	T	0.694	0.05844	T	0.435	0.35719	B	0.058	0.26451	B	0.921041	0.07476	N	1.035730	1	0.08975	N	0.805	0.20218	L	2.72	0.11947	T	-0.8	0.22078	N	0.2	0.22098	-1.0269	0.21462	T	0.021	0.08917	T	10	0.018651992	0.00408	T	0.010351	0.26785	T	0.077	0.22490	.	.	0.1749357433	0.17121	0.20996486926482202	0.20912	0.165698584947	0.18694	0.315807342529	0.12786	T	0.007766	0.07155	T	-0.53957	0.00337	T	-0.684871	0.06691	T	0.0257833261304664	0.01376	T	0.760524	0.38496	T	0.14425811	0.33121	0.09956993	0.23779	0.14425811	0.33120	0.09956993	0.23779	-3.283	0.13519	T	0.13601412301195825	0.14835	0.067	0.02399	B	.;.	.;.	2.007247	0.25502	16.79	0.98083986902661402	0.38133	0.20748	0.21154	N	AEFBI	0.072065	0.14370	N	-0.863975026498786	0.11708	0.5664812	-0.829244918481494	0.13787	0.7171311	0.99999338597127	0.74766	0.489673	0.17934	0	0.653731	0.59785	0	0.608884	0.39905	0	0.662433	0.64102	0	.	.	5.76	4.89	0.63387	1.242000	0.32358	2.173000	0.31069	0.599000	0.40250	0.004000	0.16614	0.958000	0.29226	0.079000	0.17189	0.0:0.8489:0.0:0.1511	10.246	0.42521	973	0.05605	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1378.33	36	chr18	45954978	.	C	T	1378.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=761;ExcessHet=0;FS=5.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=1.1;SOR=0.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	18	0	1	0
chr18	46240044	46240044	C	A	exonic	C18orf25	.	nonsynonymous SNV	C18orf25:NM_145055:exon3:c.C755A:p.T252N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00574211215123	8.3e-05	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs199579962	5.404e-05	5.404e-05	3.539e-05	7.288e-05	0.0002	4.41e-05	4.082e-05	4.699e-05	4.281e-05	0	2.236e-05	0	0	0	0.0002	5.845e-05	0.0001	4.637e-05	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0002	3.075e-05	2.208e-05	5.283e-05	2.834e-05	2.405e-05	0	0.0002	0.0003	0	0	0	5.88e-05	0	0	.	.	.	0.032	0.61642	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	.	.	.	.	.	.	0.897	0.89689	-0.3813	0.72611	T	0.394	0.74728	T	9	0.15661836	0.29492	T	0.005742	0.14892	T	.	.	.	.	0.281547015583	0.27767	0.36286169036748916	0.36200	.	.	.	.	.	0.097425	0.40023	T	-0.132326	0.31120	T	-0.168175	0.57609	T	0.508114337921143	0.32928	D	0.79512	0.68017	T	0.44597498	0.63786	0.496827	0.70903	0.44597498	0.63786	0.496827	0.70904	-3.66	0.18729	T	.	.	0.168	0.54041	B	.;.	.;.	4.575374	0.72228	25.8	0.99364691406599481	0.61155	0.97446	0.74802	D	AEFGBI	0.667608	0.63567	D	0.745464174583662	0.82608	7.805054	0.760309527232524	0.86925	9.048463	0.99999999999598	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.664235	0.64389	0	.	.	5.76	5.76	0.90726	5.676000	0.67802	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.976	0.97310	960	0.08626	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	33	chr18	46240044	.	C	A	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=700;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.597;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	18	0	1	0
chr18	46433311	46433311	G	C	exonic	RNF165	.	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G183C:p.Q61H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0193548578194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.23631	T	0.559	0.09144	T	0.99	0.63424	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.045	0.56016	M	2.24	0.17923	T	-0.01	0.07155	N	0.798	0.79406	-1.1086	0.03192	T	0.081	0.31884	T	10	0.66772443	0.70527	D	0.019355	0.41701	T	0.232	0.53354	0.083	0.00760	0.491190814163	0.48754	0.5198751556574452	0.51910	0.579767886639	0.53832	0.735576033592	0.72322	T	0.010393	0.09394	T	0.0748156	0.61428	D	-0.130309	0.60947	T	0.67044723033905	0.39357	D	0.806219	0.45479	T	0.12915836	0.30174	0.16252916	0.37749	0.12915836	0.30174	0.16252916	0.37748	-3.108	0.11388	T	.	.	0.114	0.22609	B	.	.	3.199079	0.43497	21.7	0.9756069990556594	0.34620	0.98438	0.82779	D	AEFDBI	0.801496	0.72719	D	0.623516056524657	0.74665	6.171326	0.64436735754761	0.78192	6.826981	0.9999999993879	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	7.058000	0.76380	8.473000	0.77277	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.08:0.0:0.92:0.0	11.785	0.51305	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	724.33	39	chr18	46433311	.	G	C	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.371;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	18	0	1	0
chr18	46433450	46433450	C	T	exonic	RNF165	.	nonsynonymous SNV	RNF165:NM_152470:exon2:c.C322T:p.L108F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0235469053453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.745	0.45235	L	2.09	0.20122	T	-0.54	0.16598	N	0.526	0.55540	-1.0677	0.09926	T	0.128	0.43625	T	10	0.34908047	0.51809	T	0.023547	0.46515	T	0.221	0.51721	0.282	0.23801	0.19168177325	0.18762	0.5812346988314699	0.58052	1.65414040978	0.89593	0.815755844116	0.84376	D	0.052448	0.29163	T	0.0324391	0.56047	T	-0.19118	0.55478	T	0.935718953609467	0.60415	D	0.937606	0.76517	D	0.2563864	0.48678	0.2522449	0.50849	0.2563864	0.48678	0.2522449	0.50849	-7.041	0.54332	T	.	.	0.497	0.64463	A	.;.	.;.	5.066911	0.84484	28.3	0.99901191227663455	0.97275	0.97790	0.77152	D	AEFDBI	0.842420	0.75953	D	0.701768887172906	0.79746	7.143655	0.705070174995814	0.82764	7.848448	0.999999999999999	0.74766	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.378000	0.78957	7.566000	0.60594	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.355	0.94398	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	689.33	39	chr18	46433450	.	C	T	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=704;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.492;SOR=1.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	18	0	1	0
chr18	46477188	46477188	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145472:exon24:c.G3340A:p.G1114R	Deafness, autosomal recessive 77, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	176685	not_specified|LOXHD1-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0506641312913	.	0.000798722	0.0018	0.0005	0.0024	0	0	0.0039	0.0041	0.0004	0.0004722	73	154602	rs142931455	0.0014	0.0012	0.0014	0.0014	0.0093	0.0013	0.0013	0.0070	0.0062	0.0008	0.0014	0.0145	0	2.041e-05	0.0093	0.0009	0.0033	0.0003	0.0011	0.0011	0.0012	0.0011	0.0011	0.0010	0.0010	0.0008	0.0007	0.0006	0	0.0011	0.0156	0	0	0.0204	0.0009	0.0052	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	0.51	0.02898	N	0.216	0.24135	-1.0099	0.26949	T	0.057	0.24055	T	6	0.0057053566	0.00127	T	0.050664	0.64337	D	0.011	0.01250	0.429	0.47680	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.489759	0.00652	T	-0.516814	0.20618	T	0.0173723648652726	0.00475	T	0.530647	0.17608	T	.	.	.	.	.	.	.	.	-3.347	0.14351	T	.	.	0.186	0.40164	B	.	.	0.621277	0.09899	6.657	0.87497148219354581	0.17269	0.04418	0.10009	N	AEFBI	0.068651	0.13552	N	-0.451799526089565	0.23679	1.273274	-0.589853790645029	0.19757	1.061453	0.0759143956702253	0.15711	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	1.34	0.21018	0.008000	0.13095	-0.479000	0.08931	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.173:0.5481:0.0:0.2789	3.675	0.07822	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014388	0.042553	0.000000	0.009009	0.000000	0.000000	0.011628	0.011905	0.02632	1813.33	35	chr18	46477188	.	C	T	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=745;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.18;SOR=0.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1441	18	0	1	0
chr18	46507646	46507646	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.C301T:p.R101W,LOXHD1:NM_001173129:exon4:c.C301T:p.R101W,LOXHD1:NM_001308013:exon16:c.C1963T:p.R655W,LOXHD1:NM_001145472:exon18:c.C2251T:p.R751W,LOXHD1:NM_144612:exon35:c.C5398T:p.R1800W,LOXHD1:NM_001384474:exon36:c.C5584T:p.R1862W	Deafness, autosomal recessive 77, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	230917	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0221032658502	0.0004	.	0.0008	0	0	0	0	0.0005	0.0042	0.0016	0.0001423	22	154602	rs201994383	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0022	0.0002	2.801e-05	0.0005	0	8.118e-05	0.0039	0.0001	0.0004	0.0015	0.0001	0.0001	8.995e-05	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	7.217e-05	0	6.537e-05	0.0017	0.0002	0.0002	0	7.35e-05	0	0.0008	0.013	0.59928	D	0.02	0.62352	D	0.997	0.70673	D	0.627	0.51631	P	.	.	.	.	0.934216	0.27867	N	.	.	.	1.53	0.30401	T	-3.29	0.68532	D	0.241	0.33250	-1.0401	0.17283	T	0.079	0.31526	T	9	0.03621626	0.01909	T	0.022103	0.44952	T	0.154	0.40340	.	.	0.3085936734	0.30458	0.6855143700331494	0.68490	.	.	0.437417447567	0.30224	T	0.058536	0.30868	T	-0.440209	0.01290	T	-0.440485	0.28755	T	0.0933339290138825	0.11608	T	0.922708	0.71908	D	0.14633803	0.33504	0.16563064	0.38306	0.119899414	0.28223	0.18794675	0.42055	-7.176	0.57912	T	.	.	0.136	0.44201	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.024683	0.59468	24.1	0.93081625396445433	0.22701	0.79935	0.39711	D	AEFBI	0.782590	0.71383	D	-0.0194139625491323	0.40977	2.44293	-0.0100512462407786	0.39260	2.325097	0.00389632127999663	0.10327	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	1.9	0.24770	1.211000	0.31987	0.417000	0.18177	0.504000	0.22967	1.000000	0.71638	0.402000	0.24716	0.996000	0.76049	0.0:0.0955:0.4753:0.4292	11.523	0.49814	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	36	chr18	46507646	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.045;DP=814;ExcessHet=0;FS=2.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=2.38;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr18	46507666	46507666	T	G	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.A281C:p.Y94S,LOXHD1:NM_001173129:exon4:c.A281C:p.Y94S,LOXHD1:NM_001308013:exon16:c.A1943C:p.Y648S,LOXHD1:NM_001145472:exon18:c.A2231C:p.Y744S,LOXHD1:NM_144612:exon35:c.A5378C:p.Y1793S,LOXHD1:NM_001384474:exon36:c.A5564C:p.Y1855S	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.0652955721585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.20381	T	0.202	0.65728	T	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.999097	0.46054	D	.	.	.	0.03	0.62183	T	-4.61	0.79998	D	0.833	0.91276	-0.2636	0.75989	T	0.403	0.75381	T	9	0.8319098	0.82353	D	0.065296	0.69535	D	0.604	0.84398	0.706	0.84236	0.466991082792	0.46324	0.8355020187923392	0.83510	.	.	0.693512439728	0.66211	T	0.093429	0.39209	T	0.272752	0.80685	D	0.154013	0.80435	D	0.832259574068187	0.48706	D	0.89531	0.63576	D	0.25125262	0.48132	0.48274934	0.70051	0.25125262	0.48132	0.48274934	0.70052	-9.784	0.80571	D	.	.	0.310	0.68065	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.586726	0.72512	25.8	0.89062665019896536	0.18480	0.96776	0.70878	D	AEFBI	0.859829	0.77758	D	0.653867760410119	0.76621	6.520163	0.628570696565776	0.77024	6.600303	0.987315296109884	0.31235	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	5.978000	0.70187	7.755000	0.68203	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.089	0.71847	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1837.33	36	chr18	46507666	.	T	G	1837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=794;ExcessHet=0;FS=4.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.151;SOR=1.086	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr18	46533320	46533320	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.C596T:p.A199V,LOXHD1:NM_001145472:exon10:c.C884T:p.A295V,LOXHD1:NM_001384474:exon28:c.C4217T:p.A1406V,LOXHD1:NM_144612:exon28:c.C4217T:p.A1406V	Deafness, autosomal recessive 77, Autosomal recessive	0	1467	52	3	0	58	0.019385	.	.	.	176700	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.0015	0.00638978	0.0079	0	0.01	0.0015	0	0.0026	0.0081	0.0187	0.0016817	260	154602	rs146739496	0.0025	0.0024	0.0021	0.0030	0.0158	0.0025	0.0024	0.0151	0.0148	0.0006	0.0021	0.0008	2.798e-05	0.0001	0.0135	0.0018	0.0034	0.0158	0.0020	0.0020	0.0019	0.0020	0.0164	0.0018	0.0017	0.0135	0.0124	0.0003	0.0011	0.0025	0.0009	0.0004	9.413e-05	0.0136	0.0023	0.0028	0.0164	0.029	0.45756	D	0.034	0.83351	D	0.905	0.49920	P	0.475	0.46927	P	0.021595	0.26803	N	0.419031	0.98616	0.40390	D	.	.	.	-0.1	0.64264	T	-1.98	0.45769	N	0.053	0.12770	-0.7687	0.56929	T	0.128	0.43503	T	10	0.0068620443	0.00156	T	.	.	.	0.216	0.50959	.	.	0.208000267992	0.20380	0.46809233412506684	0.46728	.	.	0.294937849045	0.09649	T	0.020119	0.80719	T	-0.525645	0.00407	T	-0.514204	0.20885	T	0.0791777662224257	0.09881	T	0.891911	0.66064	D	0.110194	0.26050	0.24893135	0.50454	0.1610283	0.36083	0.20420283	0.44533	-7.861	0.60119	D	.	.	0.162	0.38569	B	.;.;.;.;.;.	.;.;.;.;.;.	4.329512	0.66332	24.9	0.98795692942184155	0.46365	0.98819	0.87269	D	AEFBI	0.920127	0.89165	D	0.224203404375447	0.52375	3.41199	0.406273072246657	0.61956	4.403134	0.99999999711226	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.567000	0.97303	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	0.0:0.0:1.0:0.0	19.339	0.94320	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011933	0.005208	0.016393	0.008929	0.000000	0.058824	0.005747	0.011628	0.05263	2417.83	34	chr18	46533320	.	G	A	2417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.108;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.876;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	17	0	2	0
chr18	46563106	46563106	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon18:c.C2557T:p.R853C,LOXHD1:NM_144612:exon18:c.C2557T:p.R853C	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	983057	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.337	0.0345743898706	.	.	4.517e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs202178613	3.3e-05	3.352e-05	3.533e-05	3.06e-05	4.096e-05	2.53e-05	2.263e-05	3.104e-05	2.765e-05	0	0	0	0	0	0	4.096e-05	1.733e-05	1.264e-05	3.286e-05	3.94e-05	5.139e-05	1.346e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.819	0.59018	P	0.009741	0.30227	N	0.352795	0.995037	0.48635	D	.	.	.	-0.11	0.64445	T	-5.66	0.87063	D	0.66	0.66959	-0.2350	0.76756	T	0.390	0.74416	T	10	0.7645167	0.76599	D	0.034574	0.55770	D	0.468	0.76289	0.623	0.75803	0.404453528171	0.40057	0.6691201325280289	0.66850	.	.	0.639614999294	0.58509	T	.	.	.	0.157277	0.69947	D	0.183112	0.82175	D	0.415162367835007	0.29510	T	0.937906	0.76702	D	0.10858394	0.25673	0.11553029	0.27888	0.10858394	0.25673	0.11553029	0.27888	-5.229	0.39235	T	.	.	0.286	0.62097	B	.;.;.	.;.;.	4.969879	0.82239	27.7	0.98978046416332022	0.49680	0.96349	0.68705	D	AEFDBI	0.877734	0.80256	D	0.662504266303227	0.77178	6.625372	0.629067917905093	0.77061	6.607285	0.998819692468442	0.37733	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.537000	0.66897	9.733000	0.81406	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.7697:0.2303	11.443	0.49351	828	0.39726	PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	34	chr18	46563106	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=708;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.326;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	18	0	1	0
chr18	47033028	47033028	T	C	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.A2237G:p.Y746C	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00160019469894	0.0011	0.000199681	0.0006	0.0002	0.0005	0	0	0.0010	0	0.0004	0.0006209	96	154602	rs142085771	0.0010	0.0010	0.0009	0.0010	0.0011	0.0009	0.0009	0.0011	0.0011	0.0002	0.0008	0	0	0	0.0011	0.0011	0.0011	0.0004	0.0006	0.0006	0.0008	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0010	0	0	0	0	0.0010	0.0019	0.0002	0.001	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.556337	0.11382	N	0.711456	1	0.08975	N	1.905	0.50856	L	3.17	0.07599	T	-4.09	0.74821	D	0.35	0.47208	-1.0743	0.08493	T	0.037	0.15899	T	10	0.030993909	0.01230	T	0.002	0.02574	T	0.086	0.25016	.	.	0.0551355673512	0.04727	0.2682000676818802	0.26733	0.322257000999	0.34417	0.661688923836	0.61651	T	0.130713	0.45976	T	-0.477029	0.00770	T	-0.508437	0.21477	T	0.100547130114468	0.12417	T	0.787021	0.55285	T	0.16084333	0.36053	0.15707333	0.36745	0.16084333	0.36053	0.15707333	0.36744	-9.426	0.70398	D	.	.	0.358	0.57066	A	.;.	.;.	2.073909	0.26374	17.10	0.83831333789430507	0.14944	0.01190	0.04255	N	AEFBCI	0.039341	0.05699	N	-0.999401706393971	0.08617	0.4046977	-1.31446182359967	0.04242	0.1996975	0.00247163266526836	0.09461	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	1.62	-3.24	0.04779	-0.177000	0.09789	-1.212000	0.06011	-0.990000	0.01853	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.3236:0.0:0.0:0.6764	5.688	0.17085	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2231.33	33	chr18	47033028	.	T	C	2231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=816;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.413;SOR=0.823	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2245,0,2309	18	0	1	0
chr18	47034361	47034361	C	G	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.G904C:p.D302H	.	425	1085	12	0	0	12	0.00549954	.	.	.	3546985	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00198798427339	0.0044	0.000998403	0.0039	0.0003	0.0017	0	0.0053	0.0059	0.0077	0.0008	0.0037322	577	154602	rs140916062	0.0048	0.0048	0.0049	0.0047	0.0057	0.0047	0.0046	0.0052	0.0052	0.0009	0.0020	0.0059	0	0.0066	0.0057	0.0054	0.0046	0.0008	0.0043	0.0043	0.0045	0.0041	0.0074	0.0040	0.0039	0.0069	0.0067	0.0006	0.0033	0.0024	0.0049	0	0.0057	0.0068	0.0074	0.0019	0.0006	0.102	0.30235	T	0.014	0.62352	D	0.092	0.25296	B	0.073	0.28123	B	0.814085	0.06845	N	1.176810	1	0.08975	N	2.095	0.58118	M	3.16	0.07711	T	-1.8	0.42384	N	0.084	0.06059	-0.9318	0.43874	T	0.012	0.04416	T	10	0.005583346	0.00123	T	0.001988	0.03588	T	0.011	0.01250	.	.	0.0401082797425	0.02173	0.09962181158894795	0.09893	0.299190559194	0.32285	0.359031915665	0.19245	T	0.046842	0.27545	T	-0.657418	0.00065	T	-0.709435	0.05324	T	0.016715834296314	0.00428	T	0.340966	0.07383	T	0.04583006	0.07568	0.05892569	0.10974	0.04583006	0.07567	0.05892569	0.10973	-2.986	0.10031	T	.	.	0.101	0.17657	B	.	.	2.337080	0.29942	18.28	0.9562979181271728	0.27411	0.02710	0.07363	N	AEFDBI	0.030483	0.03078	N	-1.21349284529092	0.04803	0.217565	-1.30773526157455	0.04329	0.203969	0.0022973118246477	0.09302	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	2.09	0.097	0.13800	0.573000	0.23401	-1.693000	0.04903	-0.356000	0.05535	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.4948:0.3037:0.2015	2.844	0.05199	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	2183.33	110	chr18	47034361	.	C	G	2183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1469;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.4;SOR=0.828	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1323	18	0	1	0
chr18	47059575	47059575	G	A	exonic	KATNAL2	.	nonsynonymous SNV	KATNAL2:NM_001353903:exon5:c.G137A:p.R46H,KATNAL2:NM_001353904:exon5:c.G137A:p.R46H,KATNAL2:NM_001353906:exon5:c.G137A:p.R46H,KATNAL2:NM_001353907:exon5:c.G137A:p.R46H,KATNAL2:NM_001353908:exon5:c.G137A:p.R46H,KATNAL2:NM_001353909:exon5:c.G137A:p.R46H,KATNAL2:NM_031303:exon5:c.G254A:p.R85H,KATNAL2:NM_001367621:exon6:c.G470A:p.R157H,KATNAL2:NM_001353899:exon8:c.G548A:p.R183H,KATNAL2:NM_001353900:exon8:c.G545A:p.R182H,KATNAL2:NM_001353901:exon8:c.G470A:p.R157H,KATNAL2:NM_001353902:exon8:c.G548A:p.R183H,KATNAL2:NM_001353905:exon8:c.G137A:p.R46H	.	420	1096	5	1	0	7	0.00318327	.	.	.	580283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0148448398521	0.0006	0.000599042	0.0005	0	0.0006	0	0	0.0006	0	0.0006	0.0004334	67	154602	rs148023825	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0008	8.972e-05	0.0005	3.829e-05	7.562e-05	7.493e-05	0.0019	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	4.81e-05	0	0.0010	0	0	9.425e-05	0	0.0006	0.0005	0.0006	0.165	0.23271	T	0.581	0.31026	T	0.0	0.02946	B	0.0	0.01387	B	0.473575	0.04939	N	1.281030	1	0.08975	N	-0.57	0.02306	N	0.99	0.93231	T	-0.22	0.10480	N	0.062	0.03392	-0.5517	0.66723	T	0.405	0.75515	T	10	0.023439854	0.00613	T	0.014845	0.35231	T	0.206	0.49396	.	.	0.341226946553	0.33730	0.3989247658917256	0.39807	0.139674272888	0.15743	0.189456790686	0.00215	T	0.016358	0.13540	T	-0.35049	0.04696	T	-0.384853	0.35153	T	0.00844971463843472	0.00102	T	0.467453	0.14601	T	0.028652452	0.02235	0.026017526	0.00671	0.028652452	0.02234	0.026017526	0.00671	-3.567	0.17381	T	.	.	0.057	0.00730	B	.;.;.	.;.;.	-0.674801	0.01379	0.079	0.8933077126959329	0.18705	0.00532	0.02463	N	AEFBI	0.025782	0.01825	N	-1.66859087681598	0.00959	0.04156136	-1.6274799260807	0.01497	0.06774935	0.00135976403094851	0.08470	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.49	-3.45	0.04479	-1.637000	0.02117	-1.359000	0.05627	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3001:0.1861:0.5138:0.0	7.642	0.27465	850	0.35610	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	950.33	36	chr18	47059575	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=695;ExcessHet=0;FS=5.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.36;SOR=0.275	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	18	0	1	0
chr18	47246849	47246849	C	T	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2335A:p.D779N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.424732564814	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414504174	7.519e-07	6.156e-06	1.479e-06	0	3.328e-05	0	0	.	.	0	3.328e-05	0	0	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.319	0.19188	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.95	0.75438	T	-2.15	0.48687	N	0.089	0.11769	-0.4903	0.68998	T	0.277	0.64896	T	7	0.28365412	0.45946	T	0.424733	0.93864	D	0.188	0.46444	0.223	0.14665	0.543647122172	0.54018	0.09013615779820769	0.08946	0.932039959237	0.71862	0.797746658325	0.81620	T	.	.	.	-0.0568796	0.43393	T	-0.31948	0.42632	T	0.932304263114929	0.59826	D	0.638236	0.25169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38372	B	.;.	.;.	4.544181	0.71454	25.7	0.99759074434499218	0.84931	0.84959	0.44056	D	AEFDBCI	0.276990	0.39160	N	0.0492379649045868	0.44107	2.690867	0.115684593390769	0.45350	2.799763	0.999632702006786	0.41205	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.35	4.35	0.51454	2.049000	0.40912	7.485000	0.59302	0.524000	0.24156	0.974000	0.34632	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	12.255	0.53937	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	145.33	35	chr18	47246849	.	C	T	145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.225;DP=754;ExcessHet=0;FS=90.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=1.87;SOR=6.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	18	0	1	0
chr18	47247094	47247094	G	C	exonic	SKOR2	.	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.C2090G:p.P697R	.	525	993	3	1	0	5	0.0025113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.973549512319	.	.	0.0060	0	0	0	.	0	0	0.0080	0.000207	32	154602	rs750657311	0.0002	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0029	0	0	0	0	0	0.0018	6.964e-05	0.0004	0.0035	0.0002	0.0002	0.0001	0.0003	0.0040	0.0002	0.0001	0.0027	0.0022	2.454e-05	0	0	0	0	0	0	0.0002	0.0005	0.0040	0.0	0.91255	D	0.158	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.51	0.81399	D	-0.56	0.17003	N	0.334	0.37509	-0.4646	0.69912	T	0.331	0.69885	T	7	0.0069221854	0.00157	T	0.97355	0.99845	D	0.234	0.53644	0.269	0.21735	0.2338531098	0.23012	0.21449005873153404	0.21365	1.00740469669	0.74634	0.894780635834	0.95841	D	.	.	.	-0.012214	0.49954	T	-0.255321	0.49289	T	0.117522916040505	0.14185	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50581	B	.;.	.;.	3.006184	0.40184	21.1	0.98384925727183437	0.40894	0.33883	0.24935	N	AEFBCI	0.050316	0.08782	N	-0.221735573876825	0.32242	1.81629	-0.231720226448215	0.30406	1.711748	0.929711746354101	0.26979	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.42	2.44	0.28875	0.782000	0.26449	0.000000	0.13247	0.466000	0.21733	0.883000	0.31049	0.953000	0.29079	0.689000	0.33808	0.0:0.0:0.7301:0.2699	7.055	0.24272	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	253.34	25	chr18	47247094	.	G	C	253.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.421;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.19;SOR=0.818	GT:AD:DP:GQ:PL	0/0:13,0:13:30:0,30,450	18	0	1	0
chr18	48040675	48040675	C	T	exonic	ZBTB7C	.	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G433A:p.D145N,ZBTB7C:NM_001318841:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371286:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371288:exon4:c.G433A:p.D145N,ZBTB7C:NM_001371285:exon5:c.G433A:p.D145N,ZBTB7C:NM_001371287:exon5:c.G433A:p.D145N,ZBTB7C:NM_001371284:exon6:c.G433A:p.D145N,ZBTB7C:NM_001371291:exon6:c.G433A:p.D145N,ZBTB7C:NM_001371290:exon9:c.G433A:p.D145N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0122209644477	.	0.000199681	1.66e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs539081436	7.527e-06	7.526e-06	0	1.513e-05	8.118e-05	4.04e-06	2.95e-06	3.766e-05	2.662e-05	0	0	0	2.519e-05	1.872e-05	0	8.994e-07	1.657e-05	8.118e-05	1.973e-05	1.971e-05	0	4.036e-05	0.0002	5.25e-06	2.46e-06	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0002	0.014	0.53172	D	0.184	0.29056	T	0.222	0.30359	B	0.022	0.19653	B	0.134820	0.18503	N	0.521312	0.999961	0.52935	D	0.69	0.16971	N	0.97	0.42502	T	-1.19	0.30346	N	0.401	0.45237	-1.0692	0.09590	T	0.060	0.25054	T	10	0.07931158	0.12743	T	0.012221	0.30597	T	0.094	0.27141	0.144	0.04746	0.134007934775	0.12933	0.07977809520318238	0.07912	0.454083579922	0.45095	0.414342522621	0.27057	T	0.016953	0.13915	T	-0.370682	0.03559	T	-0.588707	0.13778	T	0.363802254199982	0.27557	T	0.748325	0.36895	T	0.11989331	0.28221	0.07219329	0.15548	0.11989331	0.28221	0.07219329	0.15547	-6.168	0.47663	T	.	.	0.156	0.34449	B	.;.;.;.	.;.;.;.	2.905055	0.38512	20.8	0.98920590106603445	0.48546	0.98782	0.86783	D	AEFGBI	0.929360	0.91500	D	-0.286425093309001	0.29671	1.647541	-0.196279824855156	0.31673	1.794694	0.99999999999826	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	5.317000	0.65605	7.637000	0.63009	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	17.587	0.87884	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1297.33	34	chr18	48040675	.	C	T	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=745;ExcessHet=0;FS=4.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.687;SOR=1.204	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1396	18	0	1	0
chr18	48252446	48252446	C	G	exonic	C18orf12	.	nonsynonymous SNV	C18orf12:NM_001350280:exon1:c.C146G:p.T49S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00202876021771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	132.65	173	chr18	48252446	.	C	G	132.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.893;DP=3141;ExcessHet=0.119;FS=193.121;InbreedingCoeff=-0.208;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.4;SOR=9.912	GT:AD:DP:GQ:PL	./.:164,0:164:0:0,0,3307	8	0	2	9
chr18	49093274	49093274	C	T	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374433:exon17:c.G1898A:p.C633Y,DYM:NM_001374430:exon18:c.G2063A:p.C688Y	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	572	943	7	0	0	7	0.00369783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs540724834	0	0.0001	0	0	.	0	0	.	.	0	.	.	.	0	.	0	.	.	0.0006	0.0006	0.0004	0.0008	0.0143	0.0005	0.0005	0.0116	0.0106	4.813e-05	0	0.0001	0	0	0	0.0102	0.0002	0.0009	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2419.33	33	chr18	49093274	.	C	T	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.919;DP=816;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.631;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1307	18	0	1	0
chr18	49581514	49581514	C	T	exonic	LIPG	.	nonsynonymous SNV	LIPG:NM_001308006:exon5:c.C671T:p.T224I,LIPG:NM_006033:exon6:c.C893T:p.T298I	.	420	1095	5	0	2	7	0.0022779	.	.	.	2778281	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.597	0.368870238787	.	.	8.237e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	6.47e-05	10	154602	rs61729805	6.225e-05	6.225e-05	3.539e-05	8.938e-05	0.0009	5.161e-05	4.78e-05	0.0007	0.0006	0	0	3.826e-05	0	0	0.0009	7.194e-06	6.623e-05	0.0008	2.626e-05	2.625e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.01	0.58626	D	0.084	0.54541	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.091955	0.999997	0.58761	D	2.725	0.79712	M	-2.83	0.91249	D	-3.92	0.73893	D	0.596	0.68777	0.807	0.94495	D	0.822	0.94005	D	10	0.5833216	0.65971	D	0.36887	0.92696	D	0.597	0.84019	0.452	0.51448	0.984123797572	0.98395	0.6409472262836828	0.64029	1.14500881374	0.79049	0.683301985264	0.64743	T	0.653193	0.89501	D	-0.101521	0.36172	T	-0.00775951	0.69831	D	0.745838344097137	0.43054	D	0.863014	0.67021	D	0.7245936	0.79418	0.4753445	0.69597	0.7245936	0.79420	0.4753445	0.69597	-7.525	0.57786	D	.	.	0.448	0.62127	A	.;.;.;.	.;.;.;.	3.923281	0.57294	23.8	0.99900889815057647	0.97275	0.92366	0.55545	D	AEFDBCI	0.777923	0.71058	D	0.595003591664292	0.72862	5.87297	0.558233521088791	0.71973	5.736989	0.999999997857011	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.79	4.9	0.63643	4.919000	0.63082	2.184000	0.31153	-0.218000	0.08083	1.000000	0.71638	0.975000	0.29991	0.828000	0.39026	0.0:0.8709:0.1291:0.0	16.773	0.85403	912	0.21483	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1274.33	33	chr18	49581514	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=751;ExcessHet=0;FS=5.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.261;SOR=0.875	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	18	0	1	0
chr18	49902703	49902703	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2702A:p.R901Q	Microvillus inclusion disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	879326	Inborn_genetic_diseases|MYO5B-related_disorder|not_provided|Congenital_microvillous_atrophy	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	0.0181130439631	0.0002	0.00139776	0.0009	0	0.0002	0	0	0.0001	0.0011	0.0061	0.0008085	125	154602	rs199782770	0.0005	0.0005	0.0003	0.0007	0.0056	0.0004	0.0004	0.0052	0.0050	0	0	0	2.519e-05	9.742e-05	0.0005	0.0002	0.0004	0.0056	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	4.81e-05	0	0	0	0	9.411e-05	0	8.821e-05	0	0.0041	0.152	0.24468	T	0.1	0.38742	T	0.051	0.22415	B	0.061	0.26820	B	0.091391	0.20328	N	0.483097	0.873627	0.35611	D	1.78	0.46185	L	1.45	0.32482	T	-2.15	0.48687	N	0.084	0.06059	-1.0400	0.17313	T	0.078	0.31012	T	10	0.00918448	0.00207	T	0.018113	0.40062	T	0.075	0.21907	.	.	0.252162846088	0.24830	0.15015893288584448	0.14937	0.176405578011	0.19857	0.228121072054	0.01831	T	0.096501	0.39838	T	-0.586602	0.00176	T	-0.613747	0.11682	T	0.690129339694977	0.40254	D	0.672833	0.32195	T	0.030323487	0.02677	0.09859294	0.23511	0.03871455	0.05211	0.09442644	0.22350	-5.012	0.36970	T	0.1967918698673201	0.26005	0.069	0.02960	B	.;.	.;.	1.155953	0.15446	11.85	0.95596854700337464	0.27326	0.11172	0.16456	N	AEFDBI	0.129138	0.24719	N	-1.29229384194057	0.03767	0.1688757	-1.40309239081237	0.03221	0.1498007	0.25322388405615	0.18702	0.713056	0.82018	0	0.627178	0.54094	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.63	-6.62	0.01646	0.021000	0.13381	-1.276000	0.05839	-0.834000	0.02848	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.8264:0.0:0.1736	19.987	0.97354	926	0.17793	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3319.33	38	chr18	49902703	.	C	T	3319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=931;ExcessHet=0;FS=0.45;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.114;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1394	18	0	1	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	10	1505	6	1	0	8	0.00265076	.	.	.	532304	not_provided|Heterotaxy,_visceral,_6,_autosomal|CFAP53-related_disorder	MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.02632	1451.33	35	chr18	50251764	.	C	T	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.306;SOR=0.708	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr18	50270029	50270029	A	C	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.T1635G:p.I545M	.	411	1080	30	1	0	32	0.0145985	.	.	.	3185111	not_provided|MBD1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0058	0.00279553	0.0080	0.0012	0.0020	0	0.0049	0.0105	0.0047	0.0112	0.0073996	1144	154602	rs183864846	0.0086	0.0085	0.0084	0.0087	0.0153	0.0084	0.0084	0.0127	0.0118	0.0016	0.0023	0.0163	0	0.0066	0.0153	0.0091	0.0074	0.0103	0.0064	0.0064	0.0070	0.0059	0.0097	0.0061	0.0060	0.0091	0.0088	0.0018	0.0374	0.0022	0.0196	0	0.0054	0.0034	0.0097	0.0080	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.18198	N	.	.	.	-3.8	0.95696	D	-0.19	0.09965	N	0.191	0.20925	-0.0759	0.80644	T	0.631	0.87078	D	8	0.0028661191	0.00046	T	.	.	.	0.116	0.32463	.	.	0.33174030287	0.32783	.	.	.	.	.	.	.	.	.	.	-0.382911	0.02986	T	-0.308521	0.43817	T	0.0105126473744262	0.00146	T	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-3.092	0.11205	T	.	.	0.166	0.36535	B	.	.	0.307725	0.06832	3.357	0.86566512424548925	0.16622	0.08186	0.14147	N	AEDBCI	0.045029	0.07317	N	-0.740149739767171	0.14903	0.7463552	-0.787896569141984	0.14791	0.7747388	0.999682353112689	0.41756	0.67177	0.52595	0	0.702456	0.74545	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.03	1.44	0.21647	-0.712000	0.05116	-0.187000	0.11075	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.5301:0.2952:0.0:0.1746	4.618	0.11824	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009326	0.010101	0.008152	0.003497	0.050000	0.008621	0.009146	0.015152	0.07895	2949.79	33	chr18	50270029	.	A	C	2949.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.077;DP=803;ExcessHet=0.3672;FS=1.567;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.785;SOR=0.575	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	16	0	3	0
chr18	50729633	50729633	G	A	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.G910A:p.E304K,MAPK4:NM_002747:exon6:c.G1543A:p.E515K	.	362	1146	14	0	0	14	0.00607112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	.	0.00279553	0.0054	0.0510	0	0	0	0	0	0.0058	0.0004528	70	154602	rs573296530	0.0007	0.0007	0.0007	0.0007	0.0156	0.0007	0.0007	0.0128	0.0118	0.0132	0.0016	4.796e-05	0	6.563e-05	0.0156	0.0002	0.0017	0.0020	0.0037	0.0037	0.0037	0.0036	0.0118	0.0034	0.0033	0.0110	0.0106	0.0118	0	0.0019	0	0	0	0.0068	0.0003	0.0028	0.0017	0.006	0.63226	D	0.062	0.45318	T	0.273	0.31830	B	0.019	0.18783	B	0.021191	0.26883	U	0.160399	0.999965	0.52935	D	0.975	0.24501	L	-0.67	0.72458	T	-0.34	0.12847	N	0.151	0.29889	-0.7574	0.57546	T	0.182	0.52934	T	10	0.006335616	0.00143	T	.	.	.	0.154	0.40340	.	.	0.773770914551	0.77169	0.29089173039189914	0.29002	0.679247475551	0.59926	0.696700811386	0.66667	T	0.019962	0.15803	T	-0.364443	0.03885	T	-0.275324	0.47281	T	0.0173897777317282	0.00477	T	0.694731	0.30434	T	0.14044538	0.32403	0.109787725	0.26464	0.14044538	0.32403	0.109787725	0.26463	-4.389	0.29408	T	.	.	0.110	0.21353	B	.;.	.;.	2.244526	0.28667	17.87	0.99188182896856347	0.54906	0.93701	0.58944	D	AEFDBI	0.530622	0.55124	D	-0.283688783114972	0.29778	1.654415	-0.222475343913183	0.30731	1.732925	0.836133826441814	0.24782	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	3.466000	0.52835	5.364000	0.48408	0.583000	0.30283	0.927000	0.32177	1.000000	0.68203	0.005000	0.06747	0.0:0.167:0.833:0.0	12.650	0.56119	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010266	0.005952	0.015679	0.029032	0.000000	0.000000	0.000000	0.000000	0.02632	1204.33	33	chr18	50729633	.	G	A	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.891;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	18	0	1	0
chr18	50729651	50729651	T	G	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.T928G:p.S310A,MAPK4:NM_002747:exon6:c.T1561G:p.S521A	.	.	.	.	.	.	.	.	.	.	.	3456781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.16170944637	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs750446711	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	3.451e-05	0	0	0	0.0015	0	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.411e-05	0	0	0	0	0.0015	0	0.0003	0	0	0.04	0.48642	D	0.653	0.06666	T	0.634	0.40281	P	0.168	0.35187	B	0.001599	0.38554	U	0.000000	0.999999	0.23238	N	1.04	0.26193	L	-0.6	0.71662	T	-0.49	0.15578	N	0.094	0.11912	-0.8018	0.55038	T	0.200	0.55541	T	10	0.07171589	0.10610	T	0.161709	0.84144	D	0.087	0.25287	0.112	0.02175	0.707005766138	0.70445	0.2675576626952013	0.26668	0.490376730832	0.47763	0.648070931435	0.59712	T	0.019931	0.15785	T	-0.293775	0.09260	T	-0.395336	0.33928	T	0.0502787176494405	0.05550	T	0.344066	0.07525	T	0.15596014	0.35220	0.08809354	0.20519	0.15596014	0.35220	0.08809354	0.20518	-3.593	0.17756	T	.	.	0.058	0.01786	B	.;.	.;.	1.298820	0.17006	12.90	0.81203782330792107	0.13570	0.69616	0.34258	D	AEFDBI	0.084423	0.17110	N	-0.29506171101062	0.29337	1.626081	-0.28855459334963	0.28474	1.587943	0.0947386588632168	0.16212	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	0.545000	0.22976	0.855000	0.22175	0.576000	0.29215	0.439000	0.26479	0.996000	0.32793	0.068000	0.16518	0.0:0.0:0.0:1.0	13.645	0.61745	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1124.33	33	chr18	50729651	.	T	G	1124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.909;SOR=0.75	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	18	0	1	0
chr18	50801498	50801498	C	T	exonic	MRO	.	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G478A:p.D160N,MRO:NM_001369510:exon5:c.G436A:p.D146N,MRO:NM_001369508:exon6:c.G436A:p.D146N,MRO:NM_031939:exon6:c.G436A:p.D146N	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0008	0.00359425	0.0031	0.0002	0.0015	0.0001	0.0009	0.0019	0.0024	0.0165	0.0027684	428	154602	rs34421198	0.0024	0.0025	0.0020	0.0029	0.0151	0.0024	0.0024	0.0144	0.0141	0.0005	0.0014	0.0002	7.595e-05	0.0009	0.0150	0.0017	0.0024	0.0151	0.0020	0.0020	0.0017	0.0024	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0046	0	0.0006	0.0008	0.0068	0.0021	0.0014	0.0139	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.000007	0.62929	D	0.000000	0.696698	0.81001	D	2.815	0.81989	M	1.42	0.65006	T	-3.44	0.67477	D	0.605	0.62611	-0.1139	0.79777	T	0.362	0.72330	T	10	0.007470429	0.00170	T	.	.	.	0.271	0.58633	.	.	0.575311710502	0.57199	0.16681027560439488	0.16601	0.0435277124011	0.04688	0.48858615756	0.37242	T	0.110548	0.42532	T	-0.41668	0.01797	T	-0.358984	0.38171	T	0.0206226885171932	0.00762	T	0.861714	0.55578	D	0.29636022	0.52576	0.25336042	0.50982	0.29636022	0.52576	0.25336042	0.50981	-7.849	0.61343	D	.	.	0.168	0.37159	B	.;.;.;.;.	.;.;.;.;.	4.209609	0.63584	24.6	0.99807372955357432	0.89174	0.57508	0.30395	D	AEFDI	0.299725	0.40870	N	0.363860164978995	0.59477	4.127244	0.231101934870252	0.51582	3.339425	0.999706443228583	0.41986	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	1.657000	0.36981	5.928000	0.51272	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	15.308	0.73714	696	0.58299	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009586	0.005051	0.004076	0.005848	0.000000	0.000000	0.015337	0.022727	0.02632	1025.33	34	chr18	50801498	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=644;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.183;SOR=1.488	GT:AD:DP:GQ:PL	0/0:30,0:30:72:0,72,1080	18	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	688.39	143	chr18	51177112	.	A	G	688.39	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.641;DP=1650;ExcessHet=0.3672;FS=98.343;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.16;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1085:.	13	0	3	3
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	520.39	133	chr18	51177115	.	C	T	520.39	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.841;DP=1532;ExcessHet=0.119;FS=152.544;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=2.03;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	15	0	2	2
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	204.33	44	chr18	51177121	.	C	G	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.338;DP=895;ExcessHet=0;FS=77.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=2.37;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,108,1620:.	18	0	1	0
chr18	51196864	51196864	G	C	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.C457G:p.Q153E	.	372	1149	1	0	0	1	0.000434972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.196602584967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010525206	7.064e-05	6.705e-05	6.405e-05	7.74e-05	0.0002	5.93e-05	5.449e-05	7.362e-05	6.837e-05	0	0	0	0	0	0.0002	8.815e-05	1.73e-05	1.266e-05	3.288e-05	3.284e-05	2.57e-05	4.039e-05	7.354e-05	1.261e-05	7.98e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.354e-05	0	0	0.01	0.56456	D	1.0	0.01155	T	0.018	0.17786	B	0.006	0.12133	B	.	.	.	.	0.950257	0.26510	N	0	0.06538	N	1.31	0.35405	T	0.04	0.06488	N	0.175	0.18784	-1.0544	0.13198	T	0.045	0.19316	T	9	0.1279827	0.24342	T	0.196603	0.86489	D	0.036	0.09122	0.222	0.14518	0.305252298933	0.30134	.	.	0.767965699156	0.64618	0.900816857815	0.96531	D	0.03467	0.23413	T	-0.245427	0.14663	T	-0.590316	0.13638	T	0.12333846500389	0.14753	T	0.509849	0.16238	T	0.13360396	0.31070	0.16912113	0.38923	0.13360396	0.31070	0.16912113	0.38923	-3.187	0.12322	T	.	.	0.074	0.04889	B	.	.	3.554884	0.49988	22.9	0.68506611449229571	0.08679	0.67396	0.33417	D	ALL	0.304589	0.41225	N	-0.569798503372517	0.19867	1.043127	-0.463462953284357	0.23168	1.262068	0.999999999999978	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.249971	0.05119	0	.	.	2.81	2.81	0.31971	3.664000	0.54263	11.334000	0.92545	0.480000	0.22105	0.971000	0.34370	1.000000	0.68203	0.075000	0.16954	0.0:0.0:1.0:0.0	9.247	0.36695	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	330.33	36	chr18	51196864	.	G	C	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=725;ExcessHet=0;FS=5.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.11;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13:30:99:0|1:51196847_C_T:344,0,385:51196847	18	0	1	0
chr18	52923838	52923838	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon4:c.G829A:p.E277K	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0224998122717	.	.	8.274e-06	0	0	0	0	0	0	6.066e-05	6.5e-06	1	154602	rs771145713	1.574e-05	1.779e-05	2.315e-05	8.255e-06	0.0002	1.048e-05	8.76e-06	7.291e-05	5.167e-05	0	0.0002	0	0	0	0	9.897e-06	1.657e-05	4.638e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.209	0.19710	T	0.233	0.25591	T	0.579	0.38789	P	0.066	0.27432	B	0.000238	0.47286	N	0.136685	0.780075	0.29342	N	0.46	0.12951	N	-1.08	0.77078	T	-1.48	0.36189	N	0.295	0.33360	-0.8412	0.52567	T	0.216	0.57771	T	10	0.22021118	0.38712	T	0.022	0.45395	T	0.152	0.39956	0.648	0.78542	0.636409761889	0.63342	0.41079762850668033	0.40995	0.210666846013	0.23558	0.429077595472	0.29082	T	0.090339	0.38564	T	-0.260961	0.12788	T	-0.343329	0.39969	T	0.0755427181720734	0.09408	T	0.735426	0.35200	T	0.1024908	0.24219	0.16330062	0.37888	0.1024908	0.24219	0.16330062	0.37887	-5.937	0.45749	T	.	.	0.146	0.32202	B	.;.	.;.	3.963558	0.58153	23.9	0.98207604186736375	0.39184	0.90630	0.51966	D	AEFI	0.370007	0.45653	N	-0.171433715342323	0.34328	1.958021	-0.0184863861835929	0.38881	2.297089	1.43896055914323E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	3.95	0.44952	2.781000	0.47437	6.342000	0.55477	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.073:0.1338:0.7932:0.0	10.596	0.44526	574	0.70151	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1383.33	102	chr18	52923838	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.787;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1301	18	0	1	0
chr18	54273997	54273997	A	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351610:exon2:c.A187C:p.N63H,POLI:NM_001351614:exon2:c.A4C:p.N2H,POLI:NM_001351615:exon2:c.A4C:p.N2H,POLI:NM_001351616:exon2:c.A187C:p.N63H,POLI:NM_001351611:exon3:c.A109C:p.N37H,POLI:NM_001351612:exon3:c.A109C:p.N37H,POLI:NM_001351613:exon3:c.A313C:p.N105H,POLI:NM_001351621:exon3:c.A313C:p.N105H,POLI:NM_001351632:exon3:c.A238C:p.N80H,POLI:NM_007195:exon3:c.A313C:p.N105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0387748364039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.396e-06	1.368e-06	1.389e-06	1.403e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.39e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.326	0.38450	T	0.847	0.46818	P	0.442	0.45773	B	0.147105	0.18091	N	0.629156	0.946391	0.37526	D	1.365	0.34158	L	-1.04	0.76561	T	-1.05	0.27463	N	0.286	0.34336	-0.5467	0.66911	T	0.299	0.66998	T	10	0.31458637	0.48898	T	0.038775	0.58424	D	0.317	0.63904	0.604	0.73586	0.660281309838	0.65743	0.27484150709870664	0.27397	0.034328980918	0.03608	0.303002685308	0.10850	T	0.186732	0.59760	T	-0.0808424	0.39578	T	-0.353901	0.38757	T	0.329428855170742	0.26202	T	0.921408	0.76258	D	0.19038986	0.40622	0.05404675	0.09222	0.19038986	0.40621	0.05404675	0.09222	-2.789	0.08082	T	.	.	0.097	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	2.831385	0.37330	20.5	0.36632017621322599	0.02367	0.80365	0.40022	D	AEFGBI	0.153412	0.27826	N	-0.194595653543112	0.33359	1.891668	-0.180037237142801	0.32270	1.834354	0.999456535861575	0.39788	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.9	3.38	0.37806	3.890000	0.55932	5.725000	0.49491	-0.092000	0.16129	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.5023:0.2561:0.0:0.2416	5.109	0.14130	599	0.68140	UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain;UmuC domain|UmuC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	782.33	35	chr18	54273997	.	A	C	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=679;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.521;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	0	1	0
chr18	54294201	54294201	G	C	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.G1594C:p.V532L,POLI:NM_001351610:exon9:c.G1831C:p.V611L,POLI:NM_001351613:exon9:c.G1720C:p.V574L,POLI:NM_001351614:exon9:c.G1648C:p.V550L,POLI:NM_001351615:exon9:c.G1648C:p.V550L,POLI:NM_001351617:exon9:c.G1414C:p.V472L,POLI:NM_001351620:exon9:c.G1177C:p.V393L,POLI:NM_001351611:exon10:c.G1753C:p.V585L,POLI:NM_001351612:exon10:c.G1753C:p.V585L,POLI:NM_001351618:exon10:c.G1414C:p.V472L,POLI:NM_001351619:exon10:c.G1414C:p.V472L,POLI:NM_001351632:exon10:c.G1882C:p.V628L,POLI:NM_007195:exon10:c.G1957C:p.V653L	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0002	0.0091853	0.0036	0.0002	0.0002	0.0022	0	1.507e-05	0.0011	0.0247	0.0032276	499	154602	rs142279753	0.0016	0.0016	0.0010	0.0022	0.0244	0.0015	0.0015	0.0235	0.0231	0.0001	2.239e-05	0	0.0008	0	0.0017	1.35e-05	0.0025	0.0244	0.0011	0.0011	0.0006	0.0016	0.0296	0.0009	0.0009	0.0257	0.0242	0.0002	0	0.0002	0	0.0013	0	0	0	0.0005	0.0296	0.005	0.63226	D	0.051	0.47828	T	0.441	0.35913	B	0.138	0.33406	B	0.213739	0.16303	N	0.618321	0.958977	0.26204	N	2.015	0.55033	M	0.73	0.56446	T	-0.82	0.22508	N	0.041	0.07949	-0.9750	0.36125	T	0.146	0.47092	T	10	0.0027565658	0.00043	T	.	.	.	0.062	0.17934	0.15	0.05339	0.612054658674	0.60893	0.18768033341767634	0.18686	0.0126781612516	0.01211	0.346217244864	0.17363	T	0.058825	0.30947	T	-0.523803	0.00418	T	-0.506259	0.21701	T	0.0157585777557027	0.00366	T	0.888211	0.61727	D	0.05422311	0.10372	0.05948035	0.11171	0.05422311	0.10372	0.05948035	0.11170	-3.511	0.16586	T	.	.	0.087	0.33086	B	.;.;.;.	.;.;.;.	1.113367	0.14988	11.49	0.92615723404452799	0.22082	0.21516	0.21429	N	AEFGBCI	0.117917	0.23079	N	-0.309994150378662	0.28768	1.589515	-0.320464119950474	0.27438	1.522526	0.974199140291195	0.29521	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.2	3.35	0.37468	0.526000	0.22680	3.241000	0.36966	0.618000	0.50648	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1515:0.5358:0.3127	8.395	0.31709	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	2267.33	35	chr18	54294201	.	G	C	2267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.011;DP=802;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.875;SOR=0.553	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1371	18	0	1	0
chr18	54294241	54294241	A	G	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351616:exon8:c.A1634G:p.Q545R,POLI:NM_001351610:exon9:c.A1871G:p.Q624R,POLI:NM_001351613:exon9:c.A1760G:p.Q587R,POLI:NM_001351614:exon9:c.A1688G:p.Q563R,POLI:NM_001351615:exon9:c.A1688G:p.Q563R,POLI:NM_001351617:exon9:c.A1454G:p.Q485R,POLI:NM_001351620:exon9:c.A1217G:p.Q406R,POLI:NM_001351611:exon10:c.A1793G:p.Q598R,POLI:NM_001351612:exon10:c.A1793G:p.Q598R,POLI:NM_001351618:exon10:c.A1454G:p.Q485R,POLI:NM_001351619:exon10:c.A1454G:p.Q485R,POLI:NM_001351632:exon10:c.A1922G:p.Q641R,POLI:NM_007195:exon10:c.A1997G:p.Q666R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0133659546673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.131	0.34596	T	0.993	0.65571	D	0.968	0.71741	D	0.017357	0.27746	N	0.346876	0.975992	0.39237	D	2.05	0.56469	M	0.78	0.55945	T	-1.16	0.29727	N	0.119	0.10911	-0.6206	0.63963	T	0.280	0.65179	T	10	0.17119804	0.31825	T	0.013366	0.32721	T	0.153	0.40148	0.243	0.17677	0.703022158834	0.70044	0.249038155212393	0.24817	0.0134552870572	0.01295	0.32847815752	0.14704	T	0.129076	0.45714	T	-0.083719	0.39107	T	-0.358033	0.38281	T	0.502171993255615	0.32709	D	0.69743	0.30707	T	0.07688007	0.17415	0.093614094	0.22120	0.07688007	0.17415	0.093614094	0.22120	-4.005	0.23878	T	.	.	0.074	0.15921	B	.;.;.;.	.;.;.;.	2.638879	0.34336	19.60	0.89360797621652577	0.18730	0.51905	0.29005	D	AEFGBCI	0.195061	0.32211	N	0.219430822454657	0.52141	3.390256	0.127646085829298	0.45968	2.850748	0.999876751896399	0.44625	0.706548	0.73137	0	0.80507	0.99744	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.85	4.85	0.62375	1.901000	0.39469	4.051000	0.41508	0.691000	0.84096	0.407000	0.26226	0.889000	0.27805	0.576000	0.30797	1.0:0.0:0.0:0.0	11.133	0.47584	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	933.33	35	chr18	54294241	.	A	G	933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.754;DP=814;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.477;SOR=0.559	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1371	18	0	1	0
chr18	55254522	55254522	A	G	exonic	TCF4	.	nonsynonymous SNV	TCF4:NM_001243234:exon8:c.T845C:p.L282P,TCF4:NM_001243235:exon8:c.T845C:p.L282P,TCF4:NM_001243236:exon8:c.T845C:p.L282P,TCF4:NM_001348214:exon8:c.T842C:p.L281P,TCF4:NM_001348215:exon8:c.T677C:p.L226P,TCF4:NM_001348216:exon8:c.T845C:p.L282P,TCF4:NM_001330605:exon10:c.T935C:p.L312P,TCF4:NM_001243232:exon11:c.T1112C:p.L371P,TCF4:NM_001243233:exon11:c.T935C:p.L312P,TCF4:NM_001306208:exon11:c.T1112C:p.L371P,TCF4:NM_001348212:exon11:c.T935C:p.L312P,TCF4:NM_001348213:exon11:c.T935C:p.L312P,TCF4:NM_001243231:exon13:c.T1199C:p.L400P,TCF4:NM_001348211:exon13:c.T1199C:p.L400P,TCF4:NM_001243227:exon14:c.T1253C:p.L418P,TCF4:NM_001243230:exon14:c.T1316C:p.L439P,TCF4:NM_001306207:exon14:c.T1253C:p.L418P,TCF4:NM_001348217:exon14:c.T1253C:p.L418P,TCF4:NM_001348218:exon14:c.T1253C:p.L418P,TCF4:NM_001348219:exon14:c.T1253C:p.L418P,TCF4:NM_001348220:exon14:c.T1250C:p.L417P,TCF4:NM_001369575:exon14:c.T1253C:p.L418P,TCF4:NM_001369576:exon14:c.T1250C:p.L417P,TCF4:NM_001369577:exon14:c.T1250C:p.L417P,TCF4:NM_001369578:exon14:c.T1250C:p.L417P,TCF4:NM_001369579:exon14:c.T1250C:p.L417P,TCF4:NM_001369580:exon14:c.T1250C:p.L417P,TCF4:NM_001369581:exon14:c.T1250C:p.L417P,TCF4:NM_001369582:exon14:c.T1253C:p.L418P,TCF4:NM_001369583:exon14:c.T1253C:p.L418P,TCF4:NM_001369584:exon14:c.T1250C:p.L417P,TCF4:NM_001369585:exon14:c.T1250C:p.L417P,TCF4:NM_001369586:exon14:c.T1256C:p.L419P,TCF4:NM_001083962:exon15:c.T1325C:p.L442P,TCF4:NM_001243228:exon15:c.T1343C:p.L448P,TCF4:NM_001330604:exon15:c.T1322C:p.L441P,TCF4:NM_001369567:exon15:c.T1325C:p.L442P,TCF4:NM_001369568:exon15:c.T1325C:p.L442P,TCF4:NM_001369569:exon15:c.T1322C:p.L441P,TCF4:NM_001369570:exon15:c.T1322C:p.L441P,TCF4:NM_001369571:exon15:c.T1325C:p.L442P,TCF4:NM_001369572:exon15:c.T1325C:p.L442P,TCF4:NM_001369573:exon15:c.T1322C:p.L441P,TCF4:NM_001369574:exon15:c.T1322C:p.L441P,TCF4:NM_003199:exon15:c.T1325C:p.L442P,TCF4:NM_001243226:exon16:c.T1631C:p.L544P	Corneal dystrophy, Fuchs endothelial, 3, Autosomal dominant;Pitt-Hopkins syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0380751440774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.23007	T	0.353	0.19539	T	0.995	0.67487	D	0.854	0.62825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.985	0.24966	L	0.36	0.57880	T	-2.04	0.48850	N	0.889	0.91505	-0.8138	0.54319	T	0.205	0.56293	T	10	0.49267212	0.61084	T	0.038075	0.58005	D	0.393	0.70844	0.346	0.34112	0.742958707275	0.74065	0.7396614853883954	0.73911	1.83307485072	0.92076	0.701032102108	0.67292	T	0.024493	0.82395	T	0.285362	0.81769	D	0.172126	0.81535	D	0.725186109542847	0.41962	D	0.889011	0.61998	D	0.49477902	0.66787	0.4890818	0.70437	0.49477902	0.66788	0.4890818	0.70438	-2.976	0.21074	T	0.29667425779110584	0.39373	0.282	0.56690	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.166543	0.86585	29.0	0.99857338659879014	0.93639	0.98097	0.79572	D	AEFGBI	0.926190	0.90691	D	0.24383218665519	0.53334	3.502792	0.377261121183369	0.60165	4.201233	0.999999999999776	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.63	5.63	0.86108	7.454000	0.79769	11.267000	0.91274	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.817	0.69670	719	0.55657	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	838.33	39	chr18	55254522	.	A	G	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.192;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	18	0	1	0
chr18	57027097	57027097	G	A	exonic	WDR7	.	nonsynonymous SNV	WDR7:NM_001382485:exon27:c.G4264A:p.A1422T,WDR7:NM_052834:exon27:c.G4264A:p.A1422T,WDR7:NM_001382487:exon28:c.G4363A:p.A1455T,WDR7:NM_015285:exon28:c.G4363A:p.A1455T	.	419	1099	4	0	0	4	0.00181653	.	.	.	3933357	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0211069388324	.	.	0.0001	0	0.0008	0	0	3.017e-05	0	0.0002	9.7e-05	15	154602	rs573261188	3.01e-05	3.078e-05	2.723e-05	3.3e-05	0.0002	2.282e-05	2.032e-05	0.0001	0.0001	2.987e-05	0.0002	0	2.519e-05	0	0	1.709e-05	9.934e-05	6.956e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.682	0.04786	T	0.0	0.92824	D	0.994	0.66517	D	0.777	0.57175	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.55	0.14455	N	0.01	0.62459	T	0.27	0.04306	N	0.652	0.66272	-0.7269	0.59119	T	0.252	0.62223	T	10	0.23226893	0.40219	T	0.021107	0.43827	T	0.206	0.49396	0.323	0.30387	0.0934897674506	0.08844	0.22929817602923955	0.22844	1.1111194691	0.78061	0.739319086075	0.72872	T	0.00687	0.22682	T	-0.206589	0.19863	T	-0.224009	0.52351	T	0.297848165035248	0.24915	T	0.952005	0.81930	D	0.11656136	0.27491	0.14508858	0.34423	0.11656136	0.27491	0.14508858	0.34422	-3.642	0.19244	T	.	.	0.086	0.28086	B	.;.;.;.	.;.;.;.	4.839638	0.78995	27.0	0.84055882691643247	0.15071	0.97932	0.78226	D	AEFBI	0.700111	0.65724	D	0.371464457945476	0.59880	4.171396	0.39182775131957	0.61060	4.301023	0.999999413571696	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.69	5.69	0.88346	8.067000	0.89279	11.728000	0.94942	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.506000	0.29152	0.0:0.0:1.0:0.0	19.413	0.94676	772	0.48957	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1363.33	45	chr18	57027097	.	G	A	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.648;DP=744;ExcessHet=0;FS=5.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.51;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1186:.	18	0	1	0
chr18	58671836	58671836	G	-	exonic	MALT1	.	frameshift deletion	MALT1:NM_006785:exon1:c.193delG:p.R66Afs*7,MALT1:NM_173844:exon1:c.193delG:p.R66Afs*7	Immunodeficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	36.01	1	chr18	58671835	.	CG	C	36.01	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.383;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=-0.0808;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,167	16	0	1	2
chr18	59347527	59347527	G	A	exonic	LMAN1	.	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C808T:p.P270S	Combined factor V and VIII deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0239750997555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.365e-06	1.379e-06	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.08	0.41913	T	0.381	0.34388	B	0.038	0.23361	B	0.000002	0.62929	D	0.104882	1	0.81001	D	1.98	0.53716	M	0.34	0.58176	T	-3.42	0.67241	D	0.634	0.64733	-0.9029	0.47684	T	0.154	0.48412	T	10	0.47330776	0.59993	T	0.023975	0.46960	T	0.216	0.50959	0.264	0.20946	0.819483537445	0.81778	0.5064545664791593	0.50567	0.205324008835	0.22955	0.628649711609	0.56953	T	0.578053	0.86138	D	0.115008	0.65868	D	-0.072576	0.65442	T	0.957061886787415	0.64915	D	0.943906	0.78806	D	0.38014275	0.59327	0.3449876	0.60188	0.38014275	0.59327	0.3449876	0.60188	-7.919	0.60517	D	.	.	0.251	0.48531	B	.	.	4.276600	0.65116	24.8	0.99576078446312799	0.72682	0.99503	0.96817	D	AEFGBI	0.929119	0.91438	D	0.370810896557074	0.59845	4.16759	0.516462405447118	0.69096	5.311983	0.999999999988615	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	8.898000	0.92168	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.631	0.88008	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1344.33	45	chr18	59347527	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.799;DP=981;ExcessHet=0;FS=6.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.325;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	18	0	1	0
chr18	62187755	62187755	G	T	exonic	RELCH	.	nonsynonymous SNV	RELCH:NM_001346229:exon1:c.G250T:p.G84C,RELCH:NM_001346230:exon1:c.G250T:p.G84C,RELCH:NM_001346231:exon1:c.G250T:p.G84C,RELCH:NM_001346233:exon1:c.G250T:p.G84C,RELCH:NM_001346234:exon1:c.G250T:p.G84C,RELCH:NM_020854:exon1:c.G250T:p.G84C	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0634180674736	.	0.000199681	0.0002	0	0.0001	0.0023	0	2.025e-05	0	0.0003	0.0001423	22	154602	rs562549635	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	9.916e-05	0.0027	0.0026	0	4.511e-05	0	0.0032	0	0.0003	2.431e-05	9.964e-05	0.0001	5.251e-05	5.249e-05	0.0001	0	0.0012	2.555e-05	1.828e-05	0.0005	0.0003	2.404e-05	0	0	0	0.0012	0	0	0	0	0.0002	0.027	0.46513	D	0.048	0.48594	D	0.858	0.47274	P	0.629	0.51727	P	0.023411	0.26448	U	0.306668	0.797567	0.29153	N	.	.	.	0.88	0.46028	T	-2.24	0.50175	N	0.209	0.23884	-1.0392	0.17556	T	0.080	0.31824	T	9	0.012226403	0.00264	T	0.063418	0.68962	D	0.046	0.12618	0.308	0.27967	0.0675242888579	0.06100	0.5442356611789002	0.54349	1.04843531002	0.76047	0.682005286217	0.64557	T	0.054538	0.29751	T	-0.479576	0.00743	T	-0.497033	0.22657	T	0.121625632663986	0.14587	T	0.723828	0.33737	T	0.16367269	0.36525	0.13797472	0.32964	0.16367269	0.36524	0.13797472	0.32964	-7.485	0.57737	T	.	.	0.089	0.19398	B	.;.;.	.;.;.	3.483029	0.48648	22.6	0.99288521795281992	0.58184	0.62969	0.31944	D	AEFDGBCI	0.213776	0.33932	N	-0.4343660443733	0.24273	1.309467	-0.365342377305534	0.26038	1.435726	0.999999832147054	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.29	2.16	0.26663	2.588000	0.45802	0.707000	0.20898	-0.244000	0.07312	1.000000	0.71638	0.668000	0.26052	0.878000	0.41950	0.08:0.1218:0.3506:0.4477	4.077	0.09386	973	0.05605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	37	chr18	62187755	.	G	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.41;DP=737;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=1.04;SOR=0.572	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1180	18	0	1	0
chr18	62524316	62524316	G	A	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.G892A:p.A298T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.110617543593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332562711	5.731e-06	6.156e-06	5.655e-06	5.809e-06	0.0002	2.47e-06	1.78e-06	9.169e-05	6.543e-05	0	0	0	0.0002	0	0	0	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.009	0.66756	D	0.296	0.32457	B	0.029	0.21540	B	0.318075	0.14318	N	0.608007	0.99986	0.20048	N	1.1	0.28011	L	1.83	0.24841	T	-0.88	0.23808	N	0.024	0.00445	-1.0654	0.10456	T	0.039	0.16677	T	10	0.06909722	0.09865	T	0.110618	0.78807	D	0.016	0.02506	0.258	0.20002	0.126345400529	0.12197	0.17266671097267489	0.17186	0.0422098634338	0.04548	0.715622127056	0.69409	T	0.00444	0.03847	T	-0.229187	0.16757	T	-0.566987	0.15726	T	0.081054282239399	0.10121	T	0.682032	0.29067	T	0.07738592	0.17562	0.097741425	0.23278	0.07738592	0.17561	0.097741425	0.23277	-4.36	0.29010	T	.	.	0.070	0.03443	B	.	.	1.309080	0.17120	12.97	0.99558935190301201	0.71645	0.17629	0.19919	N	AEFDBHCI	0.057332	0.10669	N	-0.571231268727836	0.19823	1.040489	-0.562220726541922	0.20481	1.103694	0.999999926668604	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.99	3.03	0.34070	-0.092000	0.11094	1.124000	0.24269	0.588000	0.31329	0.010000	0.18352	0.001000	0.17328	0.464000	0.28207	0.0:0.1845:0.8155:0.0	11.287	0.48462	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	52	chr18	62524316	.	G	A	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.157;DP=890;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-1.148;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	18	0	1	0
chr18	62524317	62524317	C	G	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.C893G:p.A298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0697984945789	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403093524	5.016e-06	4.788e-06	2.828e-06	7.263e-06	4.638e-06	2.09e-06	1.34e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.638e-06	3.455e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.09319	T	0.324	0.18903	T	0.0	0.02946	B	0.002	0.06944	B	0.318075	0.14318	N	0.608007	0.999999	0.08975	N	0.41	0.12415	N	1.85	0.24472	T	-0.41	0.14000	N	0.036	0.01068	-0.9993	0.30115	T	0.020	0.08360	T	10	0.03283316	0.01443	T	0.069798	0.70829	D	0.064	0.18567	0.273	0.22369	0.0611884634855	0.05136	0.17399773653769146	0.17319	0.0425505024233	0.04588	0.710065484047	0.68603	T	0.003313	0.02718	T	-0.315262	0.07293	T	-0.690629	0.06353	T	0.0273079713786635	0.01589	T	0.550145	0.18957	T	0.062438123	0.13042	0.04541954	0.06109	0.062438123	0.13042	0.04541954	0.06108	-3.261	0.13239	T	.	.	0.081	0.08033	B	.	.	1.297528	0.16988	12.89	0.88451782974165494	0.17987	0.04923	0.10678	N	AEFDBHCI	0.040654	0.06076	N	-1.09400738025068	0.06753	0.3117653	-1.0588636983764	0.08523	0.4194713	0.999998877027415	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.99	-0.261	0.12322	-0.120000	0.10633	-1.463000	0.05382	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.453000	0.27962	0.1396:0.3661:0.2392:0.2551	1.199	0.01766	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	52	chr18	62524317	.	C	G	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=890;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-1.569;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	18	0	1	0
chr18	62574990	62574990	C	T	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.C2909T:p.P970L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0262270857971	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1046496869	1.505e-05	1.505e-05	1.77e-05	1.238e-05	1.979e-05	9.85e-06	8.42e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.65	0.36330	T	-4.22	0.75854	D	0.55	0.73375	-0.9331	0.43680	T	0.135	0.44971	T	10	0.4431041	0.58226	T	0.026227	0.49152	D	0.173	0.43840	0.194	0.10571	0.347217280506	0.34334	0.5616954187045847	0.56096	0.302582847708	0.32585	0.816995799541	0.84567	D	0.304701	0.67699	T	-0.0542828	0.43794	T	-0.252104	0.49609	T	0.973516523838043	0.70127	D	0.949005	0.81197	D	0.3905386	0.60070	0.3192482	0.57888	0.3905386	0.60071	0.3192482	0.57887	-4.464	0.30414	T	.	.	0.295	0.55194	B	.;.	.;.	4.652172	0.74163	26.1	0.99917175194822538	0.98518	0.94064	0.60003	D	AEFBCI	0.577934	0.57934	D	0.585522161730142	0.72271	5.779432	0.587692019677241	0.74054	6.072655	0.999997885344293	0.74766	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.77	4.77	0.60425	5.076000	0.64242	7.386000	0.58483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:1.0:0.0:0.0	18.361	0.90317	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1650.33	37	chr18	62574990	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=881;ExcessHet=0;FS=3.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.255;SOR=0.475	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr18	62716500	62716500	C	T	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C817T:p.P273S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.5	.	.	.	.	.	.	0.5	3.88e-05	6	154602	rs754834443	4.181e-05	8.279e-05	3.434e-05	5.01e-05	0.0019	3.169e-05	2.822e-05	0.0014	0.0013	4.645e-05	0	0	0	0	0	2.213e-06	7.289e-05	0.0019	3.99e-05	3.948e-05	3.896e-05	4.088e-05	0.0008	1.732e-05	1.141e-05	0.0003	0.0002	0	0	6.61e-05	0	0	0	0	1.483e-05	0	0.0008	0.502	0.07695	T	0.754	0.04737	T	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	0	0.06538	N	1.9	0.23486	T	0.09	0.05917	N	0.031	0.00770	-0.9716	0.36862	T	0.021	0.08686	T	7	0.001489222	0.00017	T	.	.	.	0.007	0.00512	0.264	0.20946	0.082315109003	0.07666	0.10887400503243175	0.10816	1.57708980324	0.88325	0.759550869465	0.75862	T	0.04293	0.26341	T	-0.385119	0.02891	T	-0.790973	0.02138	T	0.0204042678299983	0.00740	T	0.454355	0.12956	T	0.017705016	0.00296	0.038808916	0.03831	0.017705016	0.00295	0.038808916	0.03830	-3.588	0.17684	T	.	.	0.072	0.04356	B	.	.	0.639712	0.10083	6.830	0.94335845042581834	0.24673	0.01147	0.04152	N	AEFDBCI	0.029231	0.02722	N	-1.07724868667867	0.07065	0.3270621	-1.2234942582227	0.05534	0.2639546	0.999999997784295	0.74766	0.495885	0.18260	0	0.449817	0.06596	2	0.231153	0.04653	2	0.554799	0.18163	0	.	.	2.14	-3.33	0.04649	-0.688000	0.05251	.	.	0.497000	0.22564	0.000000	0.06391	.	.	0.042000	0.14466	0.2356:0.3407:0.4237:0.0	4.552	0.11517	943	0.12886	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	195.59	6	chr18	62716500	.	C	T	195.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.143;DP=183;ExcessHet=0;FS=0;InbreedingCoeff=-0.0428;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.207;SOR=0.527	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,349	18	0	1	0
chr18	62830160	62830160	T	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.T1702C:p.C568R	.	430	1091	1	0	0	1	0.000458085	.	.	.	3893794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.521	0.117213371141	0.0034	0.000998403	0.0040	0.0012	0.0036	0	0.0050	0.0058	0.0020	0.0012	0.0024838	384	154602	rs142894376	0.0037	0.0037	0.0037	0.0037	0.0044	0.0036	0.0036	0.0043	0.0043	0.0005	0.0013	7.754e-05	2.547e-05	0.0025	0.0003	0.0044	0.0026	0.0008	0.0023	0.0023	0.0024	0.0022	0.0038	0.0021	0.0020	0.0034	0.0032	0.0009	0	0.0011	0.0003	0	0.0031	0	0.0038	0.0024	0.0006	0.017	0.51248	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.845	0.48678	L	2.66	0.12575	T	-4.83	0.80943	D	0.944	0.95139	-1.0325	0.19650	T	0.133	0.44544	T	9	0.06306407	0.08158	T	0.117213	0.79693	D	0.521	0.79643	.	.	0.628969935278	0.62594	0.8243624637625556	0.82394	1.11711265099	0.78202	0.882050395012	0.94235	D	0.557102	0.85108	D	-0.118082	0.33439	T	0.0575994	0.74085	D	0.016378750721243	0.00406	T	0.941806	0.78262	D	0.771809	0.82157	0.69103456	0.81819	0.771809	0.82158	0.69103456	0.81820	-14.268	0.93895	D	.	.	0.96	0.88058	P	.	.	4.902668	0.80590	27.4	0.99705050766849135	0.80936	0.98040	0.79094	D	AEFDGBIJ	0.942331	0.94675	D	0.556690336167792	0.70489	5.509201	0.573448296245036	0.73041	5.906237	0.999999999998039	0.74766	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	8.017000	0.88732	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.004	0.71156	976	0.04745	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1115.33	42	chr18	62830160	.	T	C	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.195;DP=761;ExcessHet=0;FS=2.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.169;QD=8.92;ReadPosRankSum=-1.476;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	18	0	1	0
chr18	62895992	62895992	A	G	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2425G:p.I809V	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00644763915004	0.0056	0.00199681	0.0062	0.0015	0.0026	0	0.0024	0.0098	0.0049	0.0020	0.0057179	884	154602	rs140035447	0.0073	0.0073	0.0076	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0007	0.0036	0.0080	0	0.0019	0.0059	0.0086	0.0067	0.0022	0.0054	0.0054	0.0057	0.0051	0.0093	0.0051	0.0050	0.0087	0.0084	0.0012	0	0.0046	0.0092	0	0.0018	0	0.0093	0.0066	0.0012	0.18	0.21968	T	0.566	0.08930	T	0.011	0.15914	B	0.017	0.18140	B	.	.	.	.	0.999552	0.47544	D	0.37	0.12060	N	1.82	0.25018	T	-0.3	0.11913	N	0.254	0.28732	-1.0998	0.04116	T	0.031	0.13461	T	9	0.0069567263	0.00158	T	0.006448	0.16985	T	0.024	0.04979	.	.	0.198222871337	0.19423	0.16040579437757857	0.15961	0.18493123561	0.20789	0.36145812273	0.19598	T	0.075158	0.35111	T	-0.515915	0.00465	T	-0.501529	0.22190	T	0.00988755284792739	0.00131	T	0.756924	0.38041	T	0.06259428	0.13090	0.06520868	0.13185	0.06259428	0.13089	0.06520868	0.13184	-2.914	0.09284	T	.	.	0.081	0.08129	B	.	.	1.522128	0.19539	14.31	0.96229183512237038	0.29113	0.78783	0.38922	D	AEFDGBI	0.276728	0.39140	N	-0.178972271614104	0.34011	1.936217	0.0252513208865807	0.40891	2.447648	0.999992503888689	0.74766	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.07	5.07	0.68106	2.102000	0.41421	1.085000	0.23927	0.756000	0.94297	1.000000	0.71638	0.912000	0.28152	0.997000	0.79791	1.0:0.0:0.0:0.0	15.016	0.71245	986	0.02773	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.011696	0.000000	0.008621	0.003049	0.007576	0.02632	394.33	33	chr18	62895992	.	A	G	394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.821;DP=697;ExcessHet=0;FS=3.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0.651;SOR=0.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	18	0	1	0
chr18	63318540	63318540	C	T	exonic	BCL2	.	nonsynonymous SNV	BCL2:NM_000633:exon2:c.G127A:p.A43T,BCL2:NM_000657:exon2:c.G127A:p.A43T	Leukemia/lymphoma, B-cell	0	1490	31	1	0	33	0.0109525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0007	0.0397364	0.0190	0.0015	0.0005	0.0904	0	0.0003	0.0099	0.0917	0.0160153	2476	154602	rs1800477	0.0071	0.0073	0.0050	0.0093	0.0790	0.0070	0.0070	0.0774	0.0768	0.0004	0.0006	0	0.0681	2.097e-05	0.0032	0.0002	0.0128	0.0790	0.0068	0.0068	0.0052	0.0085	0.0896	0.0064	0.0063	0.0828	0.0802	0.0015	0	0.0029	0	0.0896	0.0002	0	0.0002	0.0128	0.0868	0.686	0.04353	T	0.672	0.07766	T	0.994	0.66517	D	0.664	0.52930	P	0.584839	0.05557	U	1.321060	0.999483	0.21117	N	0.975	0.24501	L	3.66	0.04228	T	-0.28	0.11547	N	0.018	0.00407	-0.9828	0.34351	T	0.001	0.00318	T	10	0.0017367601	0.00022	T	.	.	.	0.064	0.18567	.	.	.	.	0.3542840710471905	0.35342	0.850350720984	0.68505	0.56729799509	0.48295	T	0.372533	0.73670	T	-0.710834	0.00032	T	-0.716363	0.04974	T	0.0035515613756084	0.00038	T	0.49985	0.15613	T	0.028242368	0.02132	0.052725133	0.08743	0.028242368	0.02131	0.052725133	0.08742	-4.715	0.33585	T	.	.	0.067	0.03266	B	.;.;.	.;.;.	0.909965	0.12842	9.357	0.98120820459476421	0.38432	0.02731	0.07400	N	AEFDBHCI	0.062385	0.11989	N	-0.851366503132075	0.12016	0.5832008	-0.916413075350327	0.11707	0.5980686	0.999999744067704	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.33	1.57	0.22490	-0.025000	0.12361	-0.771000	0.07495	-0.254000	0.07082	0.009000	0.18154	0.013000	0.20296	0.002000	0.04165	0.0:0.6723:0.0:0.3277	7.734	0.27969	874	0.30607	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.041667	0.02632	1854.33	34	chr18	63318540	.	C	T	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=784;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.66;SOR=0.815	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1623	18	0	1	0
chr18	63393489	63393489	A	G	exonic	VPS4B	.	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1153C:p.S385P	.	435	1083	4	0	0	4	0.00184332	.	.	.	2376651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.609	0.145772853476	0.0003	0.000199681	0.0005	9.614e-05	0.0004	0	0	0.0006	0.0011	0.0006	0.0004528	70	154602	rs140107443	0.0004	0.0004	0.0003	0.0004	0.0050	0.0004	0.0003	0.0036	0.0031	8.979e-05	0.0003	0.0002	0	3.746e-05	0.0050	0.0003	0.0007	0.0010	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0006	0	0	0	0	0.0004	0.0005	0.0004	0.023	0.48186	D	0.061	0.45530	T	0.185	0.29232	B	0.159	0.34693	B	0.000000	0.84330	D	0.053884	1	0.81001	D	3.4	0.91674	M	-3.62	0.95077	D	-4.33	0.76740	D	0.556	0.58117	0.771	0.94053	D	0.858	0.95275	D	10	0.22378603	0.39166	T	0.145773	0.82794	D	0.609	0.84666	.	.	0.962447396435	0.96204	0.7826291097139142	0.78213	0.986146915518	0.73913	0.70440530777	0.67781	T	0.63026	0.88531	D	-0.0449276	0.45215	T	0.0821617	0.75722	D	0.170304705672137	0.18601	T	0.936306	0.76101	D	0.91066474	0.92357	0.81769466	0.89391	0.91066474	0.92358	0.81769466	0.89391	-13.534	0.91443	D	.	.	0.618	0.69636	P	.	.	4.325113	0.66232	24.9	0.99741701895550605	0.83555	0.99076	0.90873	D	AEFGBI	0.925007	0.90388	D	0.398928826599956	0.61365	4.33651	0.502992847896925	0.68190	5.186174	0.999697591619947	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	11.143000	0.87128	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.347	0.82972	853	0.34956	Vps4 oligomerisation, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	728.33	33	chr18	63393489	.	A	G	728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.111;SOR=0.575	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1209	18	0	1	0
chr18	63493075	63493075	T	C	exonic	SERPINB5	.	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.T547C:p.C183R	.	421	1098	3	0	0	3	0.00136426	.	.	.	2241261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0323002811845	0.0008	0.000399361	0.0006	9.615e-05	0.0009	0	0.0002	0.0008	0.0011	0.0002	0.0005627	87	154602	rs140393612	0.0006	0.0006	0.0006	0.0007	0.0036	0.0006	0.0006	0.0024	0.0021	2.987e-05	0.0003	0.0012	0	5.616e-05	0.0036	0.0007	0.0007	0.0006	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0006	2.406e-05	0	0.0006	0.0006	0	9.409e-05	0	0.0008	0.0005	0.0004	0.505	0.07619	T	0.562	0.92824	T	0.004	0.12183	B	0.004	0.10090	B	0.014233	0.28595	N	0.404755	1	0.81001	D	0.955	0.23872	L	-1.66	0.82715	D	-1.74	0.41239	N	0.29	0.32812	-0.7577	0.57530	T	0.322	0.69099	T	10	0.030227125	0.01149	T	0.032	0.54161	D	0.212	0.50341	.	.	0.650222326566	0.64731	0.8426817817173708	0.84229	0.103735805567	0.11741	0.551106452942	0.46013	T	0.185147	0.53803	T	-0.279734	0.10696	T	-0.256379	0.49185	T	0.00980644037881255	0.00129	T	0.59564	0.22108	T	0.3233762	0.54924	0.2944775	0.55477	0.3233762	0.54924	0.2944775	0.55477	-1.554	0.01878	T	.	.	0.170	0.50213	B	.;.	.;.	1.835853	0.23322	15.97	0.81995687941781026	0.13965	0.66540	0.33114	D	AEFDGBCIJ	0.352241	0.44507	N	-0.523546159901554	0.21321	1.130594	-0.325996904356216	0.27262	1.511501	0.999972716204875	0.50053	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.05	3.66	0.41111	2.017000	0.40600	2.312000	0.32082	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.133:0.0:0.867	10.453	0.43719	846	0.36215	Serpin domain|Serpin domain|Maspin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.02632	1051.33	159	chr18	63493075	.	T	C	1051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.352;DP=1682;ExcessHet=0;FS=7.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.78;SOR=0.286	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	18	0	1	0
chr18	63503640	63503640	A	C	exonic	SERPINB5	.	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.A1046C:p.N349T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.01585748343	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs776808561	1.847e-05	1.847e-05	1.633e-05	2.063e-05	2.236e-05	1.265e-05	1.084e-05	1.377e-05	1.15e-05	0	2.236e-05	0	0	0	0	2.068e-05	3.312e-05	1.159e-05	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.655	0.04772	T	0.558	0.09175	T	0.0	0.02946	B	0.001	0.04355	B	0.166432	0.17505	N	0.626174	0.567491	0.32265	D	1.065	0.27018	L	-1.78	0.83737	D	-0.78	0.21644	N	0.108	0.09349	-0.8323	0.53152	T	0.298	0.66942	T	10	0.1668016	0.31137	T	0.015857	0.36823	T	0.107	0.30369	0.437	0.48993	0.78454557948	0.78255	0.18738970950636266	0.18656	0.0597400476325	0.06645	0.404658377171	0.25717	T	0.140628	0.47527	T	-0.213796	0.18848	T	-0.414428	0.31716	T	0.0492066673680743	0.05359	T	0.647535	0.25853	T	0.22233284	0.44831	0.14094666	0.33581	0.22233284	0.44831	0.14094666	0.33580	-4.151	0.26039	T	.	.	0.094	0.14339	B	.	.	2.058858	0.26176	17.03	0.77920504092673581	0.12079	0.61582	0.31526	D	AEFGBHCI	0.136023	0.25655	N	-0.429190584529161	0.24450	1.32032	-0.266553259659184	0.29207	1.634539	0.999668758474966	0.41534	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.74	3.35	0.37468	1.158000	0.31347	3.456000	0.38480	0.756000	0.94297	0.940000	0.32642	0.990000	0.31317	0.983000	0.59808	0.6657:0.1359:0.0687:0.1297	3.858	0.08493	868	0.31772	Serpin domain|Serpin, conserved site|Serpin domain|Maspin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1552.33	162	chr18	63503640	.	A	C	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=2352;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.829;SOR=0.632	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	18	0	1	0
chr18	63661204	63661204	T	C	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A13G:p.S5G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0163309996343	.	0.000599042	0.0005	0	0	0	0	1.501e-05	0.0011	0.0035	0.0004269	66	154602	rs546374165	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0002	3.599e-06	0.0003	0.0030	0.0001	0.0001	7.711e-05	0.0002	0.0037	7.574e-05	6.28e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.316	0.13744	T	0.167	0.30729	T	0.005	0.12996	B	0.007	0.15521	B	0.039485	0.24165	N	0.294976	1	0.08975	N	1.79	0.46772	L	-1.72	0.83241	D	-1.52	0.36980	N	0.157	0.16308	-0.8439	0.52386	T	0.327	0.69504	T	10	0.007665664	0.00174	T	0.016331	0.37534	T	0.130	0.35528	0.527	0.63263	0.726869068272	0.72444	0.22630962744311578	0.22545	0.0235759496406	0.02391	0.294785737991	0.09626	T	0.091755	0.38862	T	-0.465999	0.00901	T	-0.445203	0.28227	T	0.0212678316978878	0.00828	T	0.0420958	0.00548	T	0.1217021	0.28613	0.048210476	0.07112	0.1217021	0.28612	0.048210476	0.07112	-7.695	0.58994	D	.	.	0.087	0.11366	B	.;.	.;.	0.070126	0.04788	1.401	0.77588393344008344	0.11939	0.04269	0.09804	N	AEFGBCI	0.040682	0.06085	N	-0.996639500804049	0.08675	0.4076623	-1.08572889019857	0.07980	0.3904379	0.00899211723481954	0.11778	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	-0.548	0.11241	0.214000	0.17331	-9.477000	0.00816	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.507000	0.29175	0.2075:0.3917:0.0:0.4008	3.147	0.06088	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1359.33	33	chr18	63661204	.	T	C	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.623;DP=730;ExcessHet=0;FS=2.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.32;MQRankSum=-5.966;QD=14.46;ReadPosRankSum=0.492;SOR=0.402	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr18	63722993	63722993	A	G	splicing	SERPINB11	NM_080475:exon9:c.775-2A>G;NM_001370475:exon8:c.775-2A>G;NM_001291279:exon7:c.250-2A>G;NM_001291278:exon6:c.514-2A>G	.	.	.	418	1100	4	0	0	4	0.00181488	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0013	0.0003	0.0007	0	0.0002	0.0012	0.0021	0.0070	0.0007956	123	154602	rs200847682	0.0011	0.0011	0.0010	0.0012	0.0030	0.0011	0.0011	0.0027	0.0026	0.0002	0.0002	0.0030	0	1.963e-05	0.0020	0.0011	0.0008	0.0030	0.0006	0.0006	0.0006	0.0006	0.0033	0.0005	0.0005	0.0021	0.0017	0.0002	0	0.0004	0.0023	0	0	0	0.0008	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.157739	0.27110	T	-0.000195656	0.70323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.735120	0.93300	33	0.98800337441034802	0.46445	0.99582	0.97678	D	AEFGBI	.	.	.	0.958261503700684	0.94309	12.65779	0.742907306852237	0.85625	8.637139	0.999999604533057	0.74766	0.055872	0.00684	0	0.059962	0.00310	0	0.067067	0.01885	0	0.057018	0.00518	0	0.723038	0.43534	4.96	4.96	0.65153	8.879000	0.92029	11.057000	0.85382	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	1.0:0.0:0.0:0.0	14.098	0.64561	955	0.09969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	34	chr18	63722993	.	A	G	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=0.195;SOR=0.846	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr18	63901857	63901857	G	C	exonic	SERPINB2	.	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.G653C:p.G218A,SERPINB2:NM_001143818:exon7:c.G653C:p.G218A	.	429	1076	16	1	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0245256404261	0.0008	0.00139776	0.0028	0	0.0011	0	0.0092	0.0019	0.0066	0.0079	0.0024773	383	154602	rs143202684	0.0021	0.0021	0.0019	0.0023	0.0091	0.0020	0.0020	0.0086	0.0084	0.0001	0.0011	0.0007	0	0.0101	0.0031	0.0013	0.0023	0.0091	0.0015	0.0015	0.0013	0.0018	0.0066	0.0014	0.0013	0.0048	0.0042	0.0001	0	0.0004	0	0	0.0058	0	0.0018	0.0019	0.0066	0.735	0.03753	T	0.757	0.04686	T	0.625	0.40054	P	0.192	0.36449	B	0.252301	0.15484	N	0.692288	1	0.08975	N	0.82	0.20857	L	-1.77	0.83660	D	0.31	0.04022	N	0.199	0.21969	-1.0393	0.17526	T	0.063	0.26065	T	10	0.00469923	0.00099	T	0.024526	0.47518	T	0.178	0.44724	.	.	0.602933245068	0.59976	0.39490029123809944	0.39405	0.0191806811106	0.01871	0.218389570713	0.01219	T	0.093297	0.39182	T	-0.40671	0.02091	T	-0.352001	0.38975	T	0.0242855817190169	0.01181	T	0.462454	0.13421	T	0.11582219	0.27325	0.07873353	0.17663	0.11582219	0.27325	0.07873353	0.17662	-3.062	0.10865	T	.	.	0.100	0.17232	B	.;.	.;.	0.966350	0.13432	9.939	0.99051564288776506	0.51275	0.14062	0.18201	N	AEFDGBHCI	0.177202	0.30444	N	-0.244210843944827	0.31335	1.75599	-0.243318093629866	0.30001	1.685547	0.998477713112349	0.37033	0.638212	0.43195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.79	4.01	0.45821	0.367000	0.20116	2.619000	0.33623	0.676000	0.76740	0.000000	0.06391	0.074000	0.22270	0.994000	0.71098	0.2955:0.1699:0.5346:0.0	4.070	0.09353	957	0.09725	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	464.33	33	chr18	63901857	.	G	C	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=689;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.432;SOR=0.407	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr18	63918068	63918068	C	A	exonic	SERPINB10	.	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.C338A:p.A113E	.	437	1065	19	0	1	20	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	0.00259585	0.0018	0.0003	0.0006	0	0	0.0009	0.0022	0.0089	0.0015653	242	154602	rs150764677	0.0011	0.0011	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0094	0.0001	0.0002	0.0006	0	1.875e-05	0.0050	0.0005	0.0012	0.0102	0.0007	0.0007	0.0005	0.0009	0.0089	0.0006	0.0005	0.0068	0.0061	9.638e-05	0	0.0005	0.0014	0	9.454e-05	0	0.0006	0.0019	0.0089	0.007	0.59928	D	0.016	0.60972	D	0.503	0.37206	P	0.165	0.35019	B	0.103519	0.19744	N	0.534882	1	0.08975	N	2.365	0.68172	M	-1.87	0.84415	D	0.62	0.02442	N	0.256	0.28965	-0.3362	0.73953	T	0.499	0.81033	T	10	0.0140993595	0.00297	T	.	.	.	0.340	0.66202	0.82	0.93328	0.768827659172	0.76671	0.5855384913771153	0.58482	0.0360439460579	0.03809	.	.	.	0.14396	0.48034	T	-0.307592	0.07963	T	-0.207504	0.53934	T	0.0177004433797873	0.00501	T	0.872113	0.57861	D	0.083175056	0.19196	0.16915773	0.38929	0.083175056	0.19196	0.16915773	0.38928	-6.628	0.51267	T	.	.	0.349	0.56501	A	.;.	.;.	1.472428	0.18966	14.02	0.88662443902899091	0.18154	0.02507	0.06998	N	AEFDGBIJ	0.035576	0.04603	N	-0.511846940848905	0.21696	1.153322	-0.585779298301498	0.19863	1.067659	0.999977401777019	0.50053	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	3.07	0.34476	0.841000	0.27267	3.512000	0.38846	-0.184000	0.09925	0.001000	0.13787	0.744000	0.26502	0.221000	0.22489	0.0779:0.2951:0.627:0.0	9.162	0.36189	960	0.08626	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1126.33	34	chr18	63918068	.	C	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.237;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,29:87:99:.:.:269,0,1208:.	1	0	18	0
chr18	67511200	67511200	T	C	exonic	DSEL	.	nonsynonymous SNV	DSEL:NM_032160:exon2:c.A3409G:p.T1137A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0470617197664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.029	0.54541	D	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	0.98638	0.40424	D	.	.	.	-1.56	0.81815	D	-1.56	0.37759	N	0.298	0.33687	-0.1672	0.78495	T	0.466	0.79378	T	10	0.2045309	0.36648	T	0.047062	0.62750	D	0.402	0.71558	.	.	0.554077600107	0.55066	0.8034578131107023	0.80299	0.137146261983	0.15466	0.546188056469	0.45319	T	.	.	.	0.0865537	0.62798	D	-0.113448	0.62336	T	0.859143972396851	0.50974	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.	.	3.645419	0.51706	23.1	0.99205081884887758	0.55412	0.88367	0.48262	D	AEFGBCI	0.438541	0.49789	N	0.089916046913896	0.45994	2.846734	0.210104677521401	0.50408	3.23311	0.999999848598727	0.74766	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	4.991000	0.63616	7.923000	0.74625	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0803:0.0:0.9197	9.968	0.40909	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1595.33	33	chr18	67511200	.	T	C	1595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.12;SOR=0.7	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chr18	69010950	69010950	A	G	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon7:c.A1280G:p.Q427R,CCDC102B:NM_001093729:exon9:c.A1280G:p.Q427R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00125224316485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.768e-06	2.736e-06	2.754e-06	2.783e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.10020	T	0.632	0.07150	T	0.936	0.52359	P	0.512	0.47969	P	0.004726	0.33446	N	0.137391	0.995213	0.23345	N	-0.35	0.03145	N	2.97	0.09450	T	0.71	0.02130	N	0.098	0.07949	-0.9227	0.45182	T	0.015	0.06234	T	10	0.13157666	0.25043	T	0.001252	0.01683	T	0.126	0.34673	.	.	0.32580497728	0.32196	0.07055804335413594	0.06992	0.0289947564145	0.02989	0.335702776909	0.15794	T	6.36E-4	0.00271	T	-0.322619	0.06685	T	-0.701196	0.05761	T	0.692678391933441	0.40372	D	0.417158	0.10968	T	0.06757463	0.14646	0.09065902	0.21273	0.06757463	0.14646	0.09065902	0.21273	-1.577	0.01929	T	.	.	0.098	0.16407	B	.;.	.;.	2.295965	0.29372	18.10	0.91194015925448635	0.20449	0.68988	0.34012	D	AEFGI	0.161287	0.28733	N	-0.138249091604451	0.35737	2.056456	-0.0816055136206166	0.36151	2.100196	0.0161922610345178	0.12803	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	4.21	0.48984	4.389000	0.59403	0.297000	0.16936	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.961000	0.51904	0.8174:0.1826:0.0:0.0	9.236	0.36629	965	0.07246	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	651.33	33	chr18	69010950	.	A	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.195;DP=721;ExcessHet=0;FS=3.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.788;SOR=1.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	18	0	1	0
chr18	70004205	70004205	A	C	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon48:c.T3891G:p.N1297K,RTTN:NM_173630:exon49:c.T6627G:p.N2209K	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	1457262	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0121627333996	.	.	5.808e-05	0	0	0	0	4.503e-05	0	0.0002	4.53e-05	7	154602	rs756900126	5.679e-05	5.814e-05	4.221e-05	7.152e-05	0.0002	4.677e-05	4.302e-05	0.0002	0.0001	0	2.236e-05	0	0	1.873e-05	0	5.037e-05	8.28e-05	0.0002	5.256e-05	5.253e-05	5.139e-05	5.379e-05	0.0004	2.557e-05	1.83e-05	7.282e-05	3.026e-05	7.238e-05	0	0	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	0.649	0.40609	P	0.439	0.45685	B	0.009990	0.30113	N	0.317948	0.997112	0.81001	D	2.175	0.60977	M	.	.	.	.	.	.	.	.	-0.9909	0.32373	T	0.127	0.43360	T	10	0.10260302	0.18816	T	0.012163	0.30482	T	.	.	0.292	0.25400	.	.	0.1735269324114599	0.17272	.	.	0.469032347202	0.34547	T	0.043852	0.26632	T	-0.384719	0.02909	T	-0.490075	0.23384	T	0.0909675461964935	0.11333	T	0.684632	0.29288	T	0.10652167	0.25188	0.11871176	0.28655	0.10652167	0.25188	0.11871176	0.28654	-3.33	0.14126	T	.	.	0.211	0.43855	B	.;.	.;.	2.448173	0.31522	18.77	0.99687135590379372	0.79641	0.91773	0.54232	D	AEGBI	.	.	.	0.119127982976448	0.47356	2.962395	0.170188329285287	0.48221	3.041044	0.999996266522408	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	1.861000	0.39078	1.509000	0.27011	0.691000	0.84096	1.000000	0.71638	0.995000	0.32472	0.984000	0.60418	1.0:0.0:0.0:0.0	14.585	0.67914	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	779.33	33	chr18	70004205	.	A	C	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=701;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.3;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr18	74518536	74518536	G	A	exonic	CNDP2	.	nonsynonymous SNV	CNDP2:NM_001168499:exon7:c.G854A:p.R285H,CNDP2:NM_001370248:exon10:c.G1106A:p.R369H,CNDP2:NM_001370250:exon10:c.G1106A:p.R369H,CNDP2:NM_001370254:exon10:c.G389A:p.R130H,CNDP2:NM_018235:exon10:c.G1106A:p.R369H,CNDP2:NM_001370249:exon12:c.G1106A:p.R369H	.	427	1093	2	0	0	2	0.000914077	.	.	.	2194887	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00310340467104	0.0002	.	8.237e-05	9.61e-05	8.637e-05	0.0001	0	7.492e-05	0	0.0001	7.12e-05	11	154602	rs147081657	5.609e-05	5.609e-05	5.036e-05	6.188e-05	0.0001	4.61e-05	4.236e-05	5.395e-05	4.042e-05	0	0.0001	0	7.557e-05	0	0	5.216e-05	0.0001	0.0001	5.257e-05	5.253e-05	3.855e-05	6.726e-05	0.0002	2.557e-05	1.83e-05	2.846e-05	1.858e-05	4.827e-05	0	0	0	0	0	0	7.349e-05	0	0.0002	0.096	0.31088	T	0.073	0.47581	T	0.0	0.07471	B	0.002	0.06944	B	0.950626	0.07653	N	1.017760	1	0.08975	N	-0.345	0.03330	N	2.24	0.17923	T	-0.52	0.16187	N	0.208	0.23253	-0.9963	0.30946	T	0.038	0.16548	T	10	0.10220486	0.18719	T	0.003103	0.06726	T	0.055	0.15663	.	.	0.176091768786	0.17195	0.3478386898480182	0.34697	0.206106104933	0.23033	0.203981980681	0.00582	T	0.098235	0.40185	T	-0.530994	0.00379	T	-0.726213	0.04501	T	0.0305490357831972	0.02075	T	0.752425	0.37456	T	0.09912247	0.23390	0.10862943	0.26170	0.09912247	0.23390	0.10862943	0.26170	-2.393	0.05090	T	.	.	0.066	0.02200	B	.;.;.	.;.;.	1.262589	0.16608	12.65	0.9822246138287839	0.39316	0.07264	0.13287	N	AEFGBCI	0.221754	0.34634	N	-0.752556689982958	0.14563	0.7265383	-0.687717855342022	0.17268	0.9173884	0.969184778479122	0.29109	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	3.12	0.34986	1.427000	0.34489	1.845000	0.29216	-0.063000	0.16611	0.556000	0.27393	0.000000	0.08366	0.602000	0.31438	0.8601:0.0:0.1399:0.0	9.827	0.40085	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3562.83	34	chr18	74518536	.	G	A	3562.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=905;ExcessHet=0.119;FS=2.53;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.382;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	17	0	2	0
chr18	74634032	74634032	G	C	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.G3013C:p.V1005L,ZNF407:NM_001146190:exon1:c.G3013C:p.V1005L,ZNF407:NM_001384475:exon2:c.G3013C:p.V1005L,ZNF407:NM_017757:exon2:c.G3013C:p.V1005L	.	433	1076	13	0	0	13	0.00600462	.	.	.	741460	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00583239815728	0.0002	0.000798722	0.0008	0.0001	8.642e-05	0	0	0.0003	0	0.0048	0.0006986	108	154602	rs372408823	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	2.987e-05	0.0003	0.0001	0	0	0.0049	0.0002	0.0006	0.0054	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.405e-05	0	0.0007	0.0003	0.0002	0	0	0.0002	0.0014	0.0037	0.657	0.04742	T	0.941	0.02685	T	0.002	0.09854	B	0.002	0.06944	B	0.555176	0.05393	N	1.278580	1	0.08975	N	0.55	0.14455	N	3.45	0.09167	T	-0.28	0.11547	N	0.049	0.13911	-0.9782	0.35413	T	0.011	0.04227	T	10	0.0031027794	0.00052	T	0.005832	0.15161	T	0.011	0.01250	0.188	0.09776	0.240615537116	0.23683	0.046694548237496254	0.04612	0.0842569272004	0.09510	0.233957082033	0.02274	T	0.017139	0.14038	T	-0.661085	0.00062	T	-0.721151	0.04740	T	0.0186043193086753	0.00574	T	0.668933	0.27772	T	0.057556756	0.11469	0.039194945	0.03956	0.04672273	0.07867	0.046157453	0.06370	-3.192	0.12456	T	.	.	0.090	0.19235	B	.;.;.;.	.;.;.;.	0.209604	0.05935	2.373	0.22846985871122852	0.00938	0.15437	0.18911	N	AEFDGBCI	0.070638	0.14031	N	-1.43922325485938	0.02303	0.1015295	-1.40055732068641	0.03247	0.1510726	0.999979247121428	0.50053	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.89	0.365	0.15364	0.511000	0.22445	-0.110000	0.11840	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3649:0.1907:0.3246:0.1198	1.462	0.02252	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.015152	0.05263	8374.83	232	chr18	74634032	.	G	C	8374.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=2915;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.2;SOR=0.683	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	17	0	2	0
chr18	75288031	75288031	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C2624T:p.A875V,TSHZ1:NM_005786:exon2:c.C2489T:p.A830V	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3928673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.0198251521381	.	.	6.616e-05	0	8.667e-05	0	0	7.52e-05	0.0011	6.066e-05	5.17e-05	8	154602	rs774528880	0.0001	0.0001	9.938e-05	0.0001	0.0002	8.713e-05	8.201e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0002	0.0001	3.311e-05	0.0002	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.585	0.05899	T	0.43	0.13713	T	0.988	0.62325	D	0.59	0.50460	P	0.000002	0.62929	D	0.057611	0.999281	0.21411	N	0.295	0.10161	N	2.75	0.14160	T	-0.56	0.17003	N	0.472	0.59053	-0.8988	0.48115	T	0.026	0.11043	T	10	0.100290775	0.18255	T	0.019825	0.42290	T	0.262	0.57482	0.077	0.00572	0.348454897831	0.34454	0.38984601862730717	0.38899	0.37558572423	0.39016	0.761021375656	0.76080	T	0.112045	0.42800	T	-0.364522	0.03881	T	-0.469238	0.25597	T	0.160368188430835	0.17899	T	0.862114	0.55677	D	0.2021271	0.42247	0.28629008	0.54637	0.2021271	0.42247	0.28629008	0.54636	-5.062	0.38012	T	.	.	0.095	0.14797	B	.;.	.;.	3.595108	0.50751	23.0	0.95076549866234961	0.26123	0.81164	0.40626	D	AEFBI	0.298293	0.40765	N	-0.753072895763648	0.14550	0.7257222	-0.726689178471856	0.16297	0.8614853	0.849559750391149	0.25018	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	4.618000	0.60914	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.408000	0.26961	0.0:1.0:0.0:0.0	16.756	0.85360	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1441.33	39	chr18	75288031	.	C	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=1.16;SOR=0.651	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr18	76441697	76441697	C	T	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon3:c.G1358A:p.R453K	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0165481141107	8.2e-05	.	0.0013	0	0.0058	0	0	0.0016	0.0064	0.0007	0.0002458	38	154602	rs374045343	0.0003	0.0003	0.0003	0.0003	0.0030	0.0003	0.0002	0.0019	0.0016	3.086e-05	0.0003	0	0	2.29e-05	0.0030	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0003	0	0.0002	0	0.0068	0.0003	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.104812	0.19686	N	0.504521	1	0.08975	N	.	.	.	3.33	0.06138	T	0.75	0.02007	N	0.043	0.01577	-0.9107	0.46768	T	0.008	0.02679	T	9	0.0065419376	0.00148	T	0.016548	0.37860	T	0.023	0.04649	.	.	0.0954503805726	0.09146	0.3558818690918303	0.35502	0.605889179767	0.55460	0.824012041092	0.85643	D	0.003076	0.02473	T	-0.615558	0.00117	T	-0.794022	0.02056	T	0.00549400344487301	0.00060	T	0.647735	0.25884	T	0.03933398	0.05411	0.03837457	0.03691	0.03933398	0.05410	0.03837457	0.03690	-1.776	0.02438	T	.	.	0.109	0.20934	B	.	.	1.453468	0.18750	13.90	0.8018896115564601	0.13086	0.25155	0.22613	N	AEFDBCI	0.061811	0.11841	N	-0.660501312999033	0.17155	0.8803503	-0.58908949163605	0.19777	1.062622	0.999961297655206	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.74	1.69	0.23290	1.261000	0.32582	1.539000	0.27214	0.597000	0.34315	0.993000	0.37899	0.011000	0.20116	0.668000	0.33194	0.0:0.5183:0.0:0.4817	6.938	0.23658	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005056	0.000000	0.008174	0.014620	0.000000	0.000000	0.003067	0.000000	0.02632	1944.33	41	chr18	76441697	.	C	T	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.36;SOR=0.766	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr18	76868786	76868786	-	GCCTGCAAG	exonic	ZNF236	.	nonframeshift insertion	ZNF236:NM_001306089:exon4:c.465_466insGCCTGCAAG:p.K161_K162insACK,ZNF236:NM_007345:exon4:c.459_460insGCCTGCAAG:p.K159_K160insACK	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1266.29	33	chr18	76868786	.	T	TGCCTGCAAG	1266.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=678;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=1.07;SOR=1.341	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	18	0	1	0
chr18	76910761	76910761	T	C	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon16:c.T2755C:p.F919L,ZNF236:NM_007345:exon16:c.T2749C:p.F917L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0104562950545	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs780043215	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.637e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.278	0.15613	T	0.388	0.15602	T	0.307	0.32716	B	0.079	0.28749	B	0.000007	0.62929	D	0.066402	0.991348	0.41366	D	2.19	0.61577	M	2.94	0.10101	T	-0.93	0.24898	N	0.356	0.39760	-1.1040	0.03640	T	0.031	0.13418	T	10	0.15801883	0.29725	T	0.010456	0.27023	T	0.105	0.29889	0.313	0.28774	0.339940258815	0.33601	0.10605124593021176	0.10535	0.95479271699	0.72763	0.734857916832	0.72217	T	0.023251	0.19862	T	-0.275923	0.11105	T	-0.452593	0.27410	T	0.515505075454712	0.33200	D	0.918208	0.70605	D	0.12430517	0.29169	0.10561447	0.25391	0.12430517	0.29169	0.10561447	0.25390	-2.247	0.04275	T	.	.	0.927	0.84779	P	.;.	.;.	2.825458	0.37236	20.4	0.98010412963401694	0.37551	0.98070	0.79343	D	AEFGBI	0.840685	0.75795	D	0.159615215302398	0.49267	3.129102	0.275171710906369	0.54094	3.575436	0.999998765559776	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.78	4.78	0.60666	7.469000	0.79964	4.138000	0.42071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0:0.0:1.0	14.626	0.68224	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	34	chr18	76910761	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.701;DP=762;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.429;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1197	18	0	1	0
chr18	77250607	77250607	C	A	exonic	GALR1	.	nonsynonymous SNV	GALR1:NM_001480:exon1:c.C59A:p.A20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0021	0.00359425	0.0020	0.0315	0.0014	0	0	0	0	0.0001	0.0006792	105	154602	rs200473944	0.0003	0.0003	0.0004	0.0003	0.0120	0.0003	0.0003	0.0110	0.0106	0.0120	0.0004	0	0	0	0	6.418e-06	0.0008	2.452e-05	0.0029	0.0029	0.0030	0.0028	0.0100	0.0027	0.0026	0.0092	0.0089	0.0100	0	0.0018	0	0	0	0	0	0.0009	0	0.333	0.13003	T	0.589	0.08245	T	0.0	0.02946	B	0.001	0.04355	B	0.424596	0.04669	N	1.329550	1	0.08975	N	1.43	0.35840	L	1.24	0.36691	T	-0.71	0.20145	N	0.142	0.14196	-1.0535	0.13440	T	0.025	0.10598	T	10	0.003326267	0.00057	T	.	.	.	0.058	0.16647	.	.	0.390531646278	0.38663	0.34474541254480096	0.34387	0.626998182673	0.56810	0.45487177372	0.32610	T	0.084443	0.37280	T	-0.65598	0.00067	T	-0.704658	0.05575	T	0.000453454832301789	0.00004	T	0.280872	0.04893	T	0.121967465	0.28670	0.108895555	0.26239	0.121967465	0.28670	0.108895555	0.26238	-4.828	0.34916	T	.	.	0.113	0.22354	B	.	.	0.518316	0.08869	5.651	0.55030996674749189	0.05258	0.16554	0.19443	N	AEFDBCI	0.099399	0.20009	N	-1.0116528213942	0.08361	0.3917587	-1.05826348323869	0.08535	0.4201402	0.98792561217158	0.31374	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.78	0.154	0.14196	-0.473000	0.06694	0.176000	0.15576	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2158:0.4825:0.2231:0.0786	4.829	0.12796	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.006793	0.000000	0.000000	0.008772	0.000000	0.000000	0.02632	758.33	34	chr18	77250607	.	C	A	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=682;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.397;SOR=0.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr18	78993720	78993720	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1729A:p.V577M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00415615144926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226658460	7.132e-07	5.472e-06	0	1.44e-06	9.167e-07	0	0	.	.	0	0	0	0	0	0	9.167e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.12148	T	0.202	0.28032	T	0.113	0.26349	B	0.01	0.14941	B	0.802117	0.09316	N	0.887734	1	0.08975	N	1.185	0.30054	L	3.27	0.09356	T	-0.51	0.15986	N	0.093	0.07262	-0.9997	0.30002	T	0.025	0.10464	T	10	0.06884894	0.09794	T	0.004156	0.09963	T	0.018	0.03083	0.246	0.18139	0.273938319068	0.27005	0.17200680300119314	0.17120	0.582202368606	0.53986	0.262888163328	0.05238	T	0.020775	0.28041	T	-0.368238	0.03684	T	-0.766725	0.02877	T	0.164693012833595	0.18211	T	0.758824	0.38273	T	0.029577889	0.02476	0.03247396	0.01988	0.029577889	0.02476	0.03247396	0.01988	-6.044	0.47240	T	.	.	0.092	0.13409	B	.;.;.;.	.;.;.;.	-0.337676	0.02456	0.282	0.66967779964704699	0.08215	0.08667	0.14564	N	AEFDBCI	0.103105	0.20666	N	-0.883151805490789	0.11244	0.5415197	-0.995989366622081	0.09874	0.4938868	0.960065993912231	0.28465	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	-0.568	0.11171	0.091000	0.14885	-0.823000	0.07287	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4873:0.1229:0.3899:0.0	6.641	0.22103	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1748.33	139	chr18	78993720	.	G	A	1748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=1993;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=2.48;SOR=0.788	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	18	0	1	0
chr18	78993834	78993834	G	C	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1843C:p.A615P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00477806506988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.432e-06	1.368e-06	2.828e-06	0	1.849e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.849e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.243	0.24193	T	0.564	0.38410	P	0.071	0.27960	B	0.058325	0.22410	N	0.365902	1	0.08975	N	0.345	0.11182	N	3.24	0.09450	T	-0.36	0.13035	N	0.173	0.18512	-0.9914	0.32244	T	0.014	0.05417	T	10	0.1806241	0.33255	T	0.004778	0.11941	T	0.095	0.27398	0.536	0.64585	0.432154444652	0.42834	0.3220004972445124	0.32113	0.536705096442	0.51000	0.326018571854	0.14332	T	0.026692	0.26223	T	-0.25161	0.13901	T	-0.599197	0.12879	T	0.634308516979218	0.37797	D	0.685131	0.29402	T	0.1597681	0.35872	0.12955905	0.31149	0.1597681	0.35872	0.12955905	0.31148	-3.588	0.17684	T	.	.	0.070	0.04002	B	.;.;.;.	.;.;.;.	2.175599	0.27729	17.56	0.666384476820714	0.08117	0.85035	0.44136	D	AEFDBCI	0.644386	0.62065	D	-0.486187753423889	0.22533	1.20383	-0.42102054262847	0.24381	1.334791	0.999230893261112	0.38840	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.79	3.92	0.44525	5.218000	0.65089	8.106000	0.76575	0.672000	0.70159	0.995000	0.38783	1.000000	0.68203	0.001000	0.02609	0.0767:0.0:0.9233:0.0	13.338	0.59966	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1482.33	180	chr18	78993834	.	G	C	1482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=2153;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.071;SOR=0.358	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	18	0	1	0
chr18	78994050	78994050	G	T	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2059T:p.V687L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0209014344449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs994118421	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.74150	D	0.959	0.55135	D	0.631	0.51788	P	0.000168	0.48594	D	0.000000	1	0.81001	D	2.69	0.78713	M	3.2	0.07236	T	-2.81	0.59389	D	0.742	0.75466	-1.0847	0.06462	T	0.077	0.30859	T	10	0.62224776	0.68043	D	0.020901	0.43581	T	0.232	0.53354	0.626	0.76141	0.757132445023	0.75492	0.36687199462665254	0.36601	1.20472787136	0.80666	0.891526579857	0.95450	D	0.07755	0.79912	T	0.0225374	0.54723	T	-0.205403	0.54134	T	0.968314588069916	0.68201	D	0.948805	0.85218	D	0.4449454	0.63720	0.37489218	0.62645	0.4449454	0.63720	0.37489218	0.62645	-9.955	0.74514	D	.	.	0.882	0.84771	P	.;.;.;.	.;.;.;.	4.407190	0.68149	25.2	0.97865343185194109	0.36492	0.93924	0.59587	D	AEFDBCI	0.930146	0.91701	D	0.753052794462009	0.83105	7.93059	0.721861504438584	0.84037	8.182219	0.999999987313981	0.74766	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.89	4.89	0.63387	8.111000	0.89418	9.997000	0.83020	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.447	0.90633	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1859.33	180	chr18	78994050	.	G	T	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.398;DP=2194;ExcessHet=0;FS=3.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.315;SOR=0.583	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	18	0	1	0
chr18	78994444	78994444	C	T	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C2453T:p.P818L	.	313	1208	1	0	0	1	0.000413736	.	.	.	3906477	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.014712035411	0.0015	0.000199681	0.0012	0.0005	0.0011	0	0.0006	0.0018	0	0.0004	0.0009702	150	154602	rs78322910	0.0013	0.0013	0.0014	0.0013	0.0021	0.0013	0.0013	0.0015	0.0015	0.0002	0.0009	3.829e-05	0	0.0005	0.0021	0.0015	0.0010	0.0007	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0013	0.0013	0.0005	0	0.0004	0	0	9.409e-05	0	0.0016	0.0019	0	0.12	0.27904	T	0.22	0.32568	T	0.004	0.12183	B	0.002	0.06944	B	0.227656	0.15992	N	0.549098	0.950205	0.37685	D	1.4	0.35362	L	3.28	0.08986	T	-1.93	0.44852	N	0.143	0.14338	-0.9974	0.30646	T	0.023	0.09650	T	10	0.009523302	0.00215	T	0.014712	0.35003	T	0.072	0.21020	.	.	0.477838726898	0.47414	0.304847751161153	0.30397	0.403060197959	0.41255	0.284776926041	0.08167	T	0.058063	0.54783	T	-0.594895	0.00157	T	-0.640532	0.09630	T	0.0366661660373211	0.03096	T	0.724128	0.33779	T	0.03326326	0.03511	0.038691018	0.03792	0.03326326	0.03511	0.038691018	0.03792	-4.52	0.35077	T	.	.	0.081	0.08033	B	.;.;.;.	.;.;.;.	1.653412	0.21093	15.05	0.78542537376770682	0.12346	0.45230	0.27492	N	AEFDBI	0.253511	0.37299	N	-0.547235914034566	0.20570	1.085367	-0.528870817543582	0.21370	1.155744	0.999999979983441	0.74766	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	2.671000	0.46507	2.119000	0.30708	-0.194000	0.09177	0.031000	0.20493	0.008000	0.19753	0.000000	0.00833	0.0:1.0:0.0:0.0	18.506	0.90846	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	4325.83	180	chr18	78994444	.	C	T	4325.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.55;DP=2362;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.309;SOR=0.638	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	17	0	2	0
chr18	79347857	79347857	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon24:c.A2770G:p.S924G,ATP9B:NM_198531:exon24:c.A2770G:p.S924G	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.206832270814	.	.	8.262e-06	0	0	0	0	1.504e-05	0	0	3.84e-05	1	26028	rs748839083	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	6.575e-06	6.569e-06	0	1.346e-05	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.005	0.72224	D	0.864	0.50750	P	0.493	0.51118	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.09	0.87444	M	-2.48	0.89071	D	-3.5	0.68178	D	0.873	0.90704	1.060	0.98345	D	0.897	0.96582	D	10	0.8385345	0.83007	D	0.206832	0.87060	D	0.887	0.96725	0.464	0.53404	0.966853504198	0.96649	0.7074264682532349	0.70684	0.259538299536	0.28511	0.597111821175	0.52497	T	0.364657	0.73020	T	0.364114	0.87560	D	0.285248	0.87400	D	0.870676933238105	0.52058	D	0.985401	0.94968	D	0.49708903	0.66923	0.36423022	0.61795	0.49708903	0.66924	0.36423022	0.61795	-10.985	0.79577	D	.	.	0.271	0.50500	B	.;.	.;.	4.633061	0.73682	26.0	0.99806894553526737	0.89085	0.98447	0.82872	D	AEFDBI	0.876997	0.80134	D	0.829957909206601	0.87939	9.395058	0.706676655052392	0.82885	7.879444	0.999999980825375	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.1	5.1	0.68917	8.589000	0.90602	11.022000	0.84967	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.544000	0.30032	1.0:0.0:0.0:0.0	14.921	0.70481	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1549.33	58	chr18	79347857	.	A	G	1549.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.12;DP=1165;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.57;SOR=0.585	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:86:.:.:0,86,1121:.	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,6:33:53:.:.:53,0,687:.	3	0	9	7
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	2143.27	69	chr18	79373906	.	C	T	2143.27	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,5:33:77:.:.:77,107,595:.	11	0	3	5
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,6:33:77:.:.:77,0,645:.	8	0	6	5
chr18	79714626	79714626	C	T	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon8:c.C809T:p.A270V,CTDP1:NM_001318511:exon8:c.C1166T:p.A389V,CTDP1:NM_004715:exon8:c.C1166T:p.A389V,CTDP1:NM_048368:exon8:c.C1166T:p.A389V	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	656502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.010	.	0.0013	0.0127796	0.0163	0.0023	0.1267	0.0352	0.0031	0.0006	0.0075	0.0021	0.0134668	2082	154602	rs144647072	0.0050	0.0049	0.0055	0.0044	0.1111	0.0049	0.0048	0.1085	0.1074	0.0015	0.1111	0	0.0364	0.0029	0.0003	0.0001	0.0037	0.0029	0.0099	0.0099	0.0077	0.0122	0.0742	0.0095	0.0093	0.0706	0.0691	0.0027	0	0.0742	0	0.0350	0.0023	0	0.0003	0.0071	0.0048	0.216	0.19225	T	0.26	0.23029	T	0.003	0.19075	B	0.002	0.14941	B	0.693465	0.06160	N	1.167120	1	0.08975	N	1.1	0.28011	L	2.9	0.10101	T	-0.85	0.23156	N	0.018	0.01203	-0.9614	0.38916	T	0.004	0.01330	T	10	0.0018890202	0.00026	T	.	.	.	0.010	0.01040	.	.	.	.	0.15034124761110423	0.14956	0.127705555162	0.14400	0.424551963806	0.28463	T	0.050089	0.28495	T	-0.732062	0.00023	T	-0.727616	0.04437	T	0.00396095487575263	0.00042	T	0.662034	0.27102	T	0.01917842	0.00444	0.032774925	0.02066	0.018312987	0.00352	0.032774925	0.02066	-4.474	0.30547	T	.	.	0.074	0.06756	B	.;.;.;.	.;.;.;.	0.363462	0.07360	3.980	0.95942601702534847	0.28247	0.00820	0.03314	N	AEFDBI	0.018412	0.00556	N	-0.974596731307345	0.09149	0.4317957	-1.01865673427139	0.09375	0.4660551	0.906277623441708	0.26227	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.2	1.25	0.20475	-0.422000	0.07110	0.538000	0.19308	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5998:0.151:0.2492	6.090	0.19214	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1232.33	34	chr18	79714626	.	C	T	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.336;DP=715;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.276;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	18	0	1	0
chr18	79717562	79717562	A	C	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon9:c.A1739C:p.E580A,CTDP1:NM_001318511:exon9:c.A2096C:p.E699A,CTDP1:NM_004715:exon9:c.A2096C:p.E699A,CTDP1:NM_048368:exon9:c.A2096C:p.E699A	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0743429357747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378586510	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.40573	T	0.271	0.22291	T	0.003	0.19866	B	0.025	0.20508	B	0.000792	0.41772	N	0.270709	0.540669	0.32051	D	0.53	0.13656	N	-1.72	0.83241	D	-2.57	0.62008	D	0.275	0.31590	-0.7357	0.58673	T	0.314	0.68389	T	10	0.15624717	0.29431	T	0.074343	0.72017	D	0.151	0.39764	0.331	0.31681	0.442295363799	0.43851	0.5940864892022834	0.59338	0.146246402447	0.16512	0.527313768864	0.42656	T	0.157366	0.49994	T	-0.0433272	0.45452	T	-0.300013	0.44723	T	0.115439814180425	0.13979	T	0.761624	0.40374	T	0.069762595	0.15311	0.052957613	0.08829	0.069762595	0.15310	0.052957613	0.08828	-8.064	0.61506	D	.	.	0.083	0.09627	B	.;.;.;.	.;.;.;.	2.113709	0.26901	17.28	0.75374640684252403	0.11050	0.76734	0.37658	D	AEFDBCI	0.208664	0.33472	N	-0.983673549242405	0.08952	0.4217451	-0.931171918545028	0.11361	0.5782711	0.895972737172275	0.25967	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	-0.292	0.12204	3.209000	0.50824	6.246000	0.55309	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.4908:0.3728:0.1364:0.0	6.610	0.21940	.	.	BRCT domain|BRCT domain|BRCT domain;.;BRCT domain|BRCT domain|BRCT domain;BRCT domain|BRCT domain|BRCT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	37	chr18	79717562	.	A	C	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.477;DP=659;ExcessHet=0;FS=3.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.423;SOR=1.353	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	18	0	1	0
chr18	79899383	79899383	-	GCT	exonic	KCNG2	.	nonframeshift insertion	KCNG2:NM_012283:exon2:c.968_969insGCT:p.L327_F328insL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.773e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs762037910	3.534e-06	3.42e-06	1.402e-06	5.701e-06	3.661e-05	1.04e-06	7.5e-07	9.72e-06	4.7e-06	0	0	0	0	0	0	1.828e-06	0	3.661e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1679.29	34	chr18	79899383	.	G	GGCT	1679.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.046;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.809;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	18	0	1	0
chr18	80038525	80038525	C	A	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.C399A:p.F133L,RBFA:NM_024805:exon4:c.C399A:p.F133L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0165217299869	.	.	2.479e-05	0	0	0	0	3.006e-05	0	6.121e-05	1.94e-05	3	154602	rs201152461	3.559e-05	3.625e-05	2.451e-05	4.678e-05	0.0002	2.764e-05	2.502e-05	3.767e-05	2.663e-05	0	2.24e-05	0	0	0	0.0002	3.869e-05	0	8.12e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.541e-05	5.24e-06	2.45e-06	.	.	0	0.0022	6.541e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.108	0.37589	T	0.95	0.53885	P	0.86	0.61233	P	0.000020	0.62929	D	0.000000	0.999994	0.58761	D	2.16	0.60381	M	1.58	0.39990	T	-5.07	0.84882	D	0.814	0.81658	-0.7505	0.57909	T	0.192	0.54492	T	10	0.55742526	0.64597	D	0.016522	0.37815	T	0.181	0.45247	0.565	0.68633	0.612591404863	0.60947	0.38131097934556907	0.38046	0.56256237906	0.52724	0.643259882927	0.59028	T	0.102153	0.40959	T	-0.150818	0.28183	T	-0.272888	0.47528	T	0.426399628768404	0.29927	T	0.79742	0.45098	T	0.88067174	0.89722	0.7713098	0.86499	0.88067174	0.89723	0.7713098	0.86500	-8.9	0.77266	D	.	.	0.869	0.80814	P	.;.	.;.	3.488863	0.48758	22.7	0.99837746169155761	0.91886	0.68712	0.33906	D	AEFDGBCI	0.256959	0.37578	N	0.310887209509463	0.56706	3.835864	0.326658334847584	0.57111	3.87585	0.999997224412315	0.74766	0.787689	0.99735	0	0.723133	0.82719	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.145000	0.15978	2.612000	0.33583	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.0:0.9071:0.0:0.0929	10.783	0.45591	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	937.33	34	chr18	80038525	.	C	A	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.429;DP=758;ExcessHet=0;FS=2.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.505;SOR=1.022	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr18	80045896	80045896	G	T	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G688T:p.G230C,RBFA:NM_024805:exon7:c.G773T:p.G258V	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0103879545022	0.0031	0.00139776	0.0022	0.0004	0.0017	0	0.0006	0.0034	0.0011	0.0004	0.0022186	343	154602	rs146546640	0.0025	0.0025	0.0026	0.0025	0.0077	0.0025	0.0024	0.0059	0.0052	0.0007	0.0025	0.0038	2.521e-05	0.0004	0.0077	0.0029	0.0033	0.0002	0.0023	0.0023	0.0025	0.0021	0.0040	0.0021	0.0020	0.0033	0.0031	0.0005	0	0.0040	0.0014	0	0.0008	0.0102	0.0037	0.0014	0.0002	0.003	0.68238	D	0.044	0.49663	D	0.959	0.55135	D	0.556	0.49411	P	0.091953	0.20299	N	0.477385	0.999999	0.08975	N	.	.	.	1.78	0.25678	T	-2.61	0.56144	D	0.315	0.35514	-1.0895	0.05616	T	0.039	0.16978	T	9	0.004610032	0.00096	T	0.010388	0.26871	T	0.118	0.32913	.	.	0.382761230579	0.37889	0.11111175681961595	0.11040	0.803011801004	0.66336	0.267464339733	0.05813	T	0.021326	0.16629	T	-0.435043	0.01383	T	-0.399159	0.33482	T	0.023375148767641	0.01068	T	0.521748	0.17009	T	0.18848088	0.40349	0.1354497	0.32429	0.18848088	0.40349	0.1354497	0.32428	-4.055	0.24624	T	.	.	0.117	0.23709	B	.	.	1.732306	0.22045	15.46	0.98658077252863763	0.44289	0.18637	0.20342	N	AEFDBCI	0.095111	0.19220	N	-0.151032493658111	0.35190	2.018202	-0.280986694605362	0.28725	1.603809	0.848811751896699	0.25005	0.67177	0.52595	0	0.702456	0.74545	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.78	3.89	0.44098	0.894000	0.27983	3.059000	0.36152	0.676000	0.76740	0.050000	0.21411	0.999000	0.35428	0.006000	0.07323	0.1755:0.0:0.8245:0.0	8.042	0.29686	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.005435	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	2225.33	36	chr18	80045896	.	G	T	2225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.248;DP=1266;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=2.34;SOR=0.753	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr18	80133144	80133144	C	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.C150A:p.N50K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.10284239855	0.0004	0.000199681	0.0002	0	0.0005	0	0	0.0002	0	0	0.0001358	21	154602	rs138962680	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0005	0.0015	0	0	0.0016	9.267e-05	0.0004	1.164e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.816e-05	0	0.0007	0.0020	0	0	0.0136	0.0001	0.0019	0	0.008	0.65419	D	0.006	0.92824	D	0.873	0.47975	P	0.466	0.46637	P	0.000073	0.52346	D	0.078082	0.51659	0.31862	D	2.545	0.74286	M	-0.57	0.71307	T	-3.41	0.71639	D	0.405	0.44570	-0.5385	0.67220	T	0.250	0.61912	T	9	0.046792507	0.03915	T	0.102842	0.77653	D	0.268	0.58254	0.548	0.66296	0.913983924229	0.91312	0.42479770281518225	0.42396	0.738166198313	0.63100	0.585397660732	0.50845	T	0.289579	0.66237	T	-0.295581	0.09082	T	-0.346202	0.39641	T	0.267872095108032	0.23656	T	0.840116	0.51512	T	0.3929291	0.60240	0.29645896	0.55678	0.3929291	0.60240	0.29645896	0.55678	-4.507	0.30980	T	.	.	0.542	0.73442	A	.;.;.	.;.;.	2.164154	0.27577	17.51	0.98955296304660056	0.49227	0.90481	0.51693	D	AEFGBI	0.099676	0.20059	N	-0.390425469582793	0.25808	1.403816	-0.462155216014317	0.23205	1.264252	0.996615444246463	0.34869	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-1.35	0.08638	1.210000	0.31975	0.686000	0.20722	-0.347000	0.05626	1.000000	0.71638	0.999000	0.35428	0.669000	0.33223	0.0:0.4682:0.0:0.5318	10.931	0.46432	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	855.33	35	chr18	80133144	.	C	A	855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.551;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	18	0	1	0
chr18	80135669	80135669	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A256G:p.T86A	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0074	0.00419329	0.0080	0.0023	0.0016	0.0001	0.0015	0.0105	0.0033	0.0126	0.0081629	1262	154602	rs78503084	0.0099	0.0099	0.0099	0.0098	0.0121	0.0097	0.0097	0.0115	0.0113	0.0014	0.0022	0.0043	0.0001	0.0012	0.0061	0.0113	0.0074	0.0121	0.0060	0.0060	0.0064	0.0056	0.0100	0.0057	0.0055	0.0094	0.0092	0.0018	0	0.0046	0.0049	0.0002	0.0009	0.0204	0.0100	0.0043	0.0087	0.258	0.22312	T	0.281	0.21812	T	0.002	0.09854	B	0.006	0.12133	B	0.001441	0.39044	N	0.176600	0.998761	0.21926	N	1.95	0.52479	M	-0.56	0.71187	T	-0.86	0.30555	N	0.117	0.10626	-1.0448	0.15884	T	0.111	0.39841	T	9	0.0057888627	0.00129	T	.	.	.	0.042	0.11227	.	.	0.779458332734	0.77742	0.2235045365781122	0.22265	0.167435334845	0.18892	0.461018890142	0.33450	T	0.062028	0.31809	T	-0.497291	0.00592	T	-0.473475	0.25142	T	0.00325881748550906	0.00034	T	0.622038	0.23930	T	0.035229754	0.04107	0.03994675	0.04207	0.035229754	0.04107	0.03994675	0.04206	-4.872	0.35419	T	.	.	0.068	0.04396	B	.;.;.	.;.;.	0.943702	0.13196	9.696	0.9386628470318541	0.23874	0.71055	0.34850	D	AEFGBCI	0.069104	0.13663	N	-0.703779194922765	0.15915	0.8063367	-0.572165070206045	0.20220	1.088397	0.893579851091107	0.25909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	0.754	0.17558	0.874000	0.27715	2.696000	0.34125	-0.089000	0.16174	0.003000	0.16062	0.947000	0.28924	0.812000	0.38265	0.5114:0.0:0.1409:0.3477	5.379	0.15483	.	.	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.008152	0.000000	0.000000	0.000000	0.015244	0.018939	0.02632	1659.33	33	chr18	80135669	.	A	G	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=750;ExcessHet=0;FS=5.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.039;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1260	18	0	1	0
chr18	80138370	80138370	G	A	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G2957A:p.G986E	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00299521	0.0071	0.0021	0.0013	0.0001	0.0015	0.0103	0.0011	0.0077	0.0073285	1133	154602	rs75868400	0.0094	0.0094	0.0096	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0013	0.0019	0.0043	5.038e-05	0.0012	0.0038	0.0111	0.0069	0.0074	0.0057	0.0057	0.0062	0.0051	0.0097	0.0053	0.0052	0.0091	0.0089	0.0017	0	0.0042	0.0049	0	0.0009	0.0102	0.0097	0.0038	0.0054	0.452	0.08943	T	0.053	0.47336	T	0.961	0.55431	D	0.75	0.56031	P	0.000090	0.51296	D	0.000000	0.999999	0.08975	N	2.125	0.59049	M	.	.	.	-1.54	0.37375	N	0.199	0.21969	-1.0296	0.20583	T	0.102	0.37793	T	8	0.004585892	0.00095	T	.	.	.	0.124	0.34239	.	.	0.784103650021	0.78211	0.11264781931675674	0.11193	0.790937262654	0.65775	0.505969882011	0.39659	T	0.049565	0.28344	T	-0.392373	0.02597	T	-0.32342	0.42198	T	0.019233517373136	0.00629	T	0.681532	0.29028	T	0.061499324	0.12741	0.07782605	0.17375	0.061499324	0.12741	0.07782605	0.17375	-2.606	0.06549	T	.	.	0.113	0.22464	B	.	.	2.095400	0.26658	17.19	0.83447692219610303	0.14731	0.91738	0.54158	D	AEFDBCI	0.237945	0.36014	N	-0.0832294002044983	0.38127	2.22839	-0.187935779817644	0.31978	1.814909	0.998306039354046	0.36726	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.7	3.82	0.43153	1.110000	0.30761	4.319000	0.42992	-0.153000	0.12021	0.796000	0.29669	1.000000	0.68203	0.001000	0.02609	0.0:0.3022:0.5178:0.18	8.098	0.30001	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1307.33	33	chr18	80138370	.	G	A	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.271;DP=836;ExcessHet=0;FS=8.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.031;SOR=0.744	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1275	18	0	1	0
chr19	287703	287703	G	A	exonic	PLPP2	.	nonsynonymous SNV	PLPP2:NM_003712:exon3:c.C253T:p.R85C,PLPP2:NM_177526:exon3:c.C85T:p.R29C,PLPP2:NM_177543:exon3:c.C316T:p.R106C	.	430	1079	13	0	0	13	0.00598802	.	.	.	3185283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0053	0.00319489	0.0055	0.0012	0.0011	0	0.0083	0.0075	0.0100	0.0048	0.0052975	819	154602	rs61745392	0.0073	0.0073	0.0075	0.0072	0.0081	0.0072	0.0072	0.0080	0.0079	0.0012	0.0010	0.0110	2.519e-05	0.0090	0.0042	0.0081	0.0066	0.0050	0.0046	0.0046	0.0048	0.0043	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0014	0.0081	0	0.0073	0	0.0072	0.0047	0.0050	0.01	0.56456	D	0.014	0.62352	D	1.0	0.90584	D	0.899	0.63802	P	0.002594	0.36278	N	0.301489	0.999784	0.50806	D	.	.	.	-0.96	0.75553	T	-4.29	0.76414	D	0.468	0.55886	-0.0327	0.81573	T	0.427	0.77048	T	10	0.009733021	0.00219	T	.	.	.	0.269	0.58381	.	.	0.883236127117	0.88209	0.8945985127888705	0.89430	1.14340301719	0.79003	0.414103150368	0.27024	T	0.397734	0.75602	T	-0.265803	0.12229	T	-0.150859	0.59167	T	0.0284881090014217	0.01760	T	0.759724	0.38410	T	0.26032472	0.49088	0.17647563	0.40184	0.26032472	0.49088	0.17647563	0.40183	-11.849	0.84108	D	.	.	0.107	0.38871	B	.;.;.;.;.	.;.;.;.;.	4.618677	0.73312	26.0	0.99827801071768196	0.91026	0.94292	0.60703	D	AEFDBI	0.755928	0.69535	D	0.560018066947519	0.70694	5.539335	0.501810052330444	0.68114	5.175376	0.971136005609381	0.29263	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	5.126000	0.64561	7.216000	0.57834	0.662000	0.56354	1.000000	0.71638	0.999000	0.35428	0.655000	0.32830	0.0:0.0:0.8368:0.1632	12.888	0.57446	988	0.01987	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1168.33	34	chr19	287703	.	G	A	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=755;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.26;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	18	0	1	0
chr19	334521	334521	T	G	exonic	MIER2	.	nonsynonymous SNV	MIER2:NM_001346105:exon2:c.A14C:p.D5A,MIER2:NM_017550:exon3:c.A122C:p.D41A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0174378105626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.954	0.54400	P	0.563	0.49647	P	0.008361	0.30877	N	0.143965	0.994166	0.42184	D	3.07	0.87108	M	1.69	0.27032	T	-5.3	0.84387	D	0.505	0.53708	-0.9348	0.43424	T	0.103	0.37844	T	10	0.52030766	0.62604	D	0.017438	0.39139	T	0.195	0.47612	0.57	0.69299	0.174091166621	0.17034	0.6415051735159982	0.64085	0.694266774681	0.60757	0.463275074959	0.33760	T	0.385489	0.74687	T	-0.0325568	0.47045	T	-0.284542	0.46337	T	0.994735777378082	0.86208	D	0.858914	0.54988	D	0.48608387	0.66268	0.43281397	0.66855	0.48608387	0.66268	0.43281397	0.66855	-3.551	0.17153	T	.	.	0.155	0.34294	B	.	.	4.001508	0.58965	24.0	0.99470764754541707	0.66312	0.93662	0.58834	D	AEFBI	0.297944	0.40739	N	0.453659492844331	0.64410	4.695052	0.43877219981486	0.63999	4.645364	0.784736963067575	0.23909	0.645754	0.44609	0	0.697927	0.68747	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.83	4.83	0.61880	3.361000	0.52028	4.140000	0.42083	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.167	0.53439	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	33	chr19	334521	.	T	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=725;ExcessHet=0;FS=4.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.413	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	374338	374338	A	C	exonic	THEG	.	nonsynonymous SNV	THEG:NM_016585:exon2:c.T392G:p.L131R,THEG:NM_199202:exon2:c.T392G:p.L131R	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0196772225736	7.7e-05	0.000798722	0.0007	0	0.0003	0	0	0.0003	0.0023	0.0033	0.0006274	97	154602	rs150403020	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0030	0.0029	2.987e-05	0.0004	0.0002	0	1.875e-05	0.0042	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.81e-05	0	0.0003	0	0.0002	0	0	0.0004	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.92359	D	0.124233	0.18888	N	0.394822	0.724	0.29896	N	1.1	0.28011	L	0.61	0.53516	T	-4.4	0.77308	D	0.733	0.82660	-0.6667	0.61977	T	0.244	0.61225	T	10	0.06504443	0.08717	T	0.019677	0.42104	T	0.296	0.61616	.	.	0.344017737713	0.34012	0.37290604879744027	0.37204	0.381255657936	0.39490	0.431989133358	0.29480	T	0.684028	0.90750	D	-0.121771	0.32834	T	0.048317	0.73472	D	0.120021722515531	0.14432	T	0.419058	0.27634	T	0.61270934	0.73373	0.59631556	0.76561	0.61270934	0.73374	0.59631556	0.76562	-12.409	0.86786	D	.	.	0.391	0.76335	A	.;.;.	.;.;.	3.950987	0.57877	23.9	0.99626322756997099	0.75776	0.51441	0.28896	D	AEFDBHCI	0.061734	0.11823	N	0.186044295172361	0.50529	3.242036	-0.00821311853346807	0.39343	2.331232	0.602422540010629	0.21737	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.78	2.78	0.31702	0.953000	0.28759	10.568000	0.83440	0.731000	0.85647	0.219000	0.24524	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	7.387	0.26064	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	2337.83	35	chr19	374338	.	A	C	2337.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=825;ExcessHet=0.119;FS=4.279;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.13;SOR=1.03	GT:AD:DP:GQ:PL	0/1:58,41:99:99:1008,0,1328	17	0	2	0
chr19	501720	501720	C	T	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.C719T:p.S240F	.	721	799	1	1	0	3	0.00187383	.	.	.	3281259	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.015277613376	7.7e-05	.	3.506e-05	0	0	0	0	6.372e-05	0	0	6.5e-06	1	154602	rs372191773	9.463e-05	9.281e-05	0.0001	8.254e-05	0.0013	8.146e-05	7.604e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0013	0.0001	0.0001	2.478e-05	3.317e-05	3.965e-05	3.892e-05	2.715e-05	7.4e-05	1.27e-05	8.05e-06	2.861e-05	1.869e-05	0	0	0	0	0	0	0	7.4e-05	0	0	0.023	0.48186	D	0.044	0.56192	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.77	0.11407	T	-1.83	0.42957	N	0.184	0.19995	-0.9636	0.38488	T	0.013	0.05033	T	9	0.06210804	0.07889	T	0.015278	0.35920	T	0.024	0.04979	.	.	0.0846915920261	0.08053	0.18575901246039003	0.18493	0.239339673074	0.26486	0.220121979713	0.01317	T	0.056662	0.42501	T	-0.407875	0.02054	T	-0.647814	0.09107	T	0.0225021525073522	0.00965	T	0.784922	0.42251	T	0.074157916	0.16623	0.05983626	0.11297	0.074157916	0.16623	0.05983626	0.11297	-8.593	0.65043	D	.	.	0.148	0.32661	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.958292	0.13348	9.851	0.97325677400832267	0.33399	0.00524	0.02436	N	AEFDBI	0.047926	0.08123	N	-1.14864137922619	0.05802	0.2654632	-1.20289843698664	0.05863	0.2805821	0.903671850357152	0.26159	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.55	-1.31	0.08749	-0.370000	0.07578	0.155000	0.15338	0.563000	0.28513	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1761:0.4946:0.0:0.3293	3.724	0.07995	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	725.33	26	chr19	501720	.	C	T	725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=889;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=1.51;QD=13.95;ReadPosRankSum=0.482;SOR=1.004	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr19	501876	501876	G	A	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.G875A:p.R292H	.	438	1062	19	3	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0004	0.00239617	0.0049	0	0.0014	0	0	0.0010	0	0.0135	0.0011319	175	154602	rs200332335	0.0010	0.0010	0.0007	0.0013	0.0087	0.0010	0.0009	0.0081	0.0079	0.0004	0.0004	0	2.797e-05	4.213e-05	0.0073	0.0005	0.0014	0.0087	0.0006	0.0006	0.0006	0.0007	0.0100	0.0005	0.0005	0.0078	0.0070	9.654e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0100	0.103	0.30097	T	0.042	0.53426	D	0.002	0.09854	B	0.001	0.04355	B	0.114668	0.02671	N	2.253530	1	0.08975	N	0.695	0.17993	N	2.61	0.13095	T	-0.63	0.18459	N	0.056	0.05037	-0.9974	0.30646	T	0.021	0.08870	T	10	0.0036066473	0.00065	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.14869288232791517	0.14791	0.562103597048	0.52702	0.186702221632	0.00172	T	0.019228	0.31079	T	-0.676698	0.00050	T	-0.739256	0.03922	T	0.0151887775389658	0.00332	T	0.824517	0.48627	T	0.024933673	0.01376	0.018512215	0.00058	0.024933673	0.01376	0.018512215	0.00058	-3.953	0.23098	T	.	.	0.093	0.13969	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.187974	0.05743	2.189	0.8458847076980146	0.15380	0.00274	0.01486	N	AEFDBI	0.040199	0.05944	N	-1.19802033786692	0.05030	0.2283678	-1.30666015791695	0.04344	0.2046673	0.983301546453494	0.30538	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.3	-3.97	0.03821	-1.871000	0.01732	-14.423000	0.00404	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2232:0.0:0.2733:0.5035	3.463	0.07106	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008709	0.000000	0.009615	0.005988	0.000000	0.008772	0.009434	0.015267	0.05263	1782.83	40	chr19	501876	.	G	A	1782.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=815;ExcessHet=0.119;FS=1.5;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.92;SOR=0.885	GT:AD:DP:GQ:PL	0/1:17,47:64:99:1276,0,275	17	0	2	0
chr19	549171	549171	C	T	exonic	GZMM	.	stopgain	GZMM:NM_001258351:exon4:c.C481T:p.Q161X,GZMM:NM_005317:exon4:c.C598T:p.Q200X	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.0061901	0.0142	0.0014	0.0218	0	0.0080	0.0136	0.0177	0.0226	0.0050517	781	154602	rs200398398	0.0058	0.0058	0.0053	0.0063	0.0185	0.0057	0.0057	0.0177	0.0174	0.0009	0.0059	0.0022	2.625e-05	0.0019	0.0061	0.0055	0.0060	0.0185	0.0048	0.0048	0.0045	0.0051	0.0189	0.0045	0.0044	0.0157	0.0146	0.0012	0	0.0082	0.0023	0.0002	0.0011	0.0068	0.0063	0.0066	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	0.767245	0.09575	U	0.816174	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0271905	0.47824	T	0.201792	0.83225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	7.367831	0.96444	36	0.97203068963353823	0.32820	0.02489	0.06965	N	AEFDBIJ	0.036085	0.04752	N	-0.126880149528579	0.36223	2.091002	-0.514698853503994	0.21754	1.178308	2.0296530167206E-4	0.05948	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	0.623	0.16827	0.463000	0.21683	0.058000	0.14093	0.478000	0.22058	0.053000	0.21524	0.000000	0.08366	0.010000	0.09038	0.0:0.6961:0.0:0.3039	4.881	0.13039	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009804	0.022472	0.009589	0.009036	0.050000	0.000000	0.009434	0.011450	0.02632	1082.33	39	chr19	549171	.	C	T	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=729;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.698;SOR=0.804	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	0	1	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S	.	427	1077	18	0	0	18	0.00828729	.	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008081	0.005102	0.010870	0.014620	0.000000	0.000000	0.003067	0.003788	0.05263	1026.83	44	chr19	617466	.	A	G	1026.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.444;DP=894;ExcessHet=0.119;FS=0.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.009;SOR=0.541	GT:AD:DP:GQ:PL	0/1:20,21:41:99:579,0,637	17	0	2	0
chr19	622832	622832	T	C	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon7:c.A1444G:p.M482V	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0023	0.00179712	0.0015	0.0156	0.0006	0	0	0.0001	0.0029	0	0.0006598	102	154602	rs141490879	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0088	0.0101	0.0005	0	5.171e-05	3.921e-05	0.0002	4.437e-05	0.0006	7.137e-05	0.0025	0.0025	0.0025	0.0024	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0009	0	0	0	0	8.824e-05	0.0014	0	.	.	.	0.099	0.38891	T	0.016	0.17332	B	0.008	0.13708	B	0.144721	0.18170	N	0.539041	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.32	0.36043	-1.1068	0.03359	T	0.046	0.19720	T	10	0.013186306	0.00281	T	.	.	.	.	.	.	.	0.130388298395	0.12655	0.14111761529309733	0.14034	0.209969907675	0.23470	0.411320060492	0.26639	T	0.009637	0.08763	T	-0.517309	0.00456	T	-0.508321	0.21488	T	0.00251730092234761	0.00026	T	0.551745	0.19033	T	0.10760168	0.25442	0.08530695	0.19688	0.10760168	0.25442	0.08530695	0.19687	-1.054	0.01061	T	.	.	0.176	0.38462	B	.	.	0.384581	0.07562	4.218	0.5035805426403176	0.04370	0.10125	0.15717	N	AEFDBI	0.075265	0.15110	N	-1.46524017080633	0.02100	0.09236466	-1.61325281990095	0.01577	0.07148581	0.999997771506861	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	-8.03	0.00984	0.045000	0.13898	-1.114000	0.06289	-0.286000	0.06345	0.043000	0.21118	0.000000	0.08366	0.001000	0.02609	0.1459:0.0:0.1208:0.7333	10.931	0.46429	994	0.00715	DNA-directed RNA polymerase, N-terminal|DNA-directed RNA polymerase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1183.33	37	chr19	622832	.	T	C	1183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=746;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.593;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	18	0	1	0
chr19	623549	623549	G	A	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon6:c.C1195T:p.L399F	.	423	1098	1	0	0	1	0.000455166	.	.	.	2377270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0366591661322	.	.	6.687e-05	0	8.696e-05	0	0	4.577e-05	0	0.0002	5.82e-05	9	154602	rs751544061	2.19e-05	2.189e-05	1.498e-05	2.888e-05	0.0002	1.585e-05	1.356e-05	8.885e-05	7.053e-05	2.987e-05	2.236e-05	0	0	0	0	1.439e-05	1.656e-05	0.0002	3.282e-05	3.281e-05	1.285e-05	5.369e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.404e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	0.178	0.29639	T	0.43	0.35583	B	0.076	0.28435	B	0.000073	0.52346	D	0.120939	1	0.08975	N	2.42	0.70002	M	.	.	.	.	.	.	0.293	0.33140	-1.0074	0.27727	T	0.105	0.38390	T	10	0.15564167	0.29330	T	0.036659	0.57130	D	.	.	0.434	0.48500	0.159798565429	0.15598	0.3143368063974057	0.31346	0.234460416088	0.25982	0.340649485588	0.16536	T	0.112091	0.42809	T	-0.281998	0.10458	T	-0.368547	0.37058	T	0.0529789873567018	0.06016	T	0.591241	0.24302	T	0.09398543	0.22086	0.07296182	0.15800	0.09398543	0.22086	0.07296182	0.15800	-7.356	0.56593	T	.	.	0.112	0.33203	B	.;.	.;.	0.587447	0.09560	6.335	0.92288309821195302	0.21676	0.13050	0.17635	N	AEFGBCI	0.065995	0.12902	N	-0.720984475830899	0.15433	0.7776875	-0.813682395081275	0.14164	0.738698	0.999977732037662	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.63	2.3	0.27735	1.317000	0.33237	2.623000	0.33646	-0.212000	0.08331	0.010000	0.18352	0.998000	0.33993	0.001000	0.02609	0.0928:0.1677:0.7394:0.0	7.428	0.26282	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1600.33	37	chr19	623549	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.93;SOR=0.742	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr19	639942	639942	G	A	exonic	FGF22	.	stopgain	FGF22:NM_001300812:exon1:c.G17A:p.W6X,FGF22:NM_020637:exon1:c.G17A:p.W6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0385	.	.	.	.	0	0	0.0435	3.23e-05	5	154602	rs777555725	4.717e-05	6.567e-05	3.357e-05	6.21e-05	0.0032	3.646e-05	3.295e-05	0.0016	0.0012	0	0	0	0	0	0.0032	9.76e-06	9.336e-05	0.0012	4.614e-05	4.597e-05	0	9.438e-05	0.0010	2.115e-05	1.531e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.949e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.001045	0.00730	U	17.183100	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.53	0.56833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359493	0.87216	D	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.635134	0.99158	42	0.98692242597280422	0.44780	0.14962	0.18675	N	ALL	0.053110	0.09541	N	0.45456103728475	0.64464	4.701364	0.243354047181118	0.52272	3.403175	0.999999999975712	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.42	3.42	0.38259	0.613000	0.23994	5.455000	0.48656	0.494000	0.22454	0.973000	0.34540	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	11.986	0.52440	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	162.34	17	chr19	639942	.	G	A	162.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.068;DP=295;ExcessHet=0;FS=0;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.618;SOR=1.445	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,422	18	0	1	0
chr19	643250	643250	G	A	exonic	FGF22	.	nonsynonymous SNV	FGF22:NM_001300812:exon2:c.G230A:p.R77H,FGF22:NM_020637:exon2:c.G230A:p.R77H	.	407	1097	18	0	0	18	0.00813743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.228047730898	0.0019	0.00119808	0.0023	0.0003	0.0006	0	0.0005	0.0021	0.0045	0.0071	0.001727	267	154602	rs138373700	0.0020	0.0021	0.0019	0.0022	0.0061	0.0020	0.0020	0.0052	0.0050	0.0004	0.0006	0.0003	7.569e-05	0.0002	0.0061	0.0021	0.0017	0.0056	0.0015	0.0015	0.0015	0.0015	0.0056	0.0013	0.0013	0.0040	0.0034	0.0005	0	0.0008	0.0009	0	0.0003	0	0.0024	0.0005	0.0056	0.536	0.06891	T	0.031	0.53788	D	0.999	0.77913	D	0.971	0.72444	D	0.000001	0.84330	D	0.000000	0.997284	0.43767	D	2.325	0.66631	M	-1.49	0.87910	T	-2.19	0.49352	N	0.695	0.78167	0.547	0.91196	D	0.748	0.91412	D	10	0.024274528	0.00662	T	0.228048	0.88119	D	0.708	0.89559	.	.	0.845276638549	0.84379	0.5497558078855863	0.54901	0.0625190691864	0.06955	0.555647730827	0.46653	T	0.884889	0.97616	D	-0.118282	0.33405	T	0.0591009	0.74185	D	0.0566110056610057	0.06624	T	0.978136	0.92287	D	0.14080374	0.32471	0.07168853	0.15378	0.14080374	0.32471	0.07168853	0.15378	-6.996	0.54005	T	.	.	0.243	0.47708	B	.;.	.;.	4.249197	0.64489	24.7	0.99429568143629743	0.64179	0.68400	0.33788	D	AEFDBCI	0.497978	0.53227	N	0.466778797584997	0.65162	4.787847	0.345223436279736	0.58219	3.991328	0.999993548273079	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.17	4.17	0.48303	3.662000	0.54249	5.069000	0.47160	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.1044:0.0:0.8956:0.0	9.016	0.35330	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.000000	0.002725	0.000000	0.000000	0.000000	0.009202	0.015152	0.02632	648.33	35	chr19	643250	.	G	A	648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=717;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.46;SOR=0.904	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1245	18	0	1	0
chr19	731135	731135	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_001040134:exon5:c.G310A:p.A104T,PALM:NM_002579:exon5:c.G310A:p.A104T	.	.	.	.	.	.	.	.	.	.	.	1502413	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0129284622569	0.0005	0.000199681	0.0005	0.0003	0.0004	0	0.0004	0.0007	0	0.0002	0.0003105	48	154602	rs144513487	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	3.005e-05	0.0004	0	0	7.777e-05	0.0002	0.0005	0.0002	7.059e-05	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0.0002	0	0.0006	0.0005	0	0.178	0.23721	T	0.592	0.08161	T	0.209	0.29944	B	0.08	0.28873	B	0.106007	0.02593	N	2.523690	1	0.08975	N	1.61	0.41143	L	2.2	0.18570	T	-1.72	0.40850	N	0.069	0.04188	-1.0223	0.22965	T	0.036	0.15683	T	10	0.022487015	0.00563	T	0.012928	0.31926	T	0.019	0.03383	.	.	0.3085936734	0.30458	0.14685323737603073	0.14607	0.143497740287	0.16199	0.394832253456	0.24348	T	0.037465	0.24486	T	-0.331353	0.06010	T	-0.713742	0.05104	T	0.0242513691128363	0.01177	T	0.425557	0.11413	T	0.040799953	0.05892	0.051123735	0.08164	0.040799953	0.05892	0.051123735	0.08164	-3.938	0.22873	T	.	.	0.067	0.02370	B	.;.	.;.	0.440468	0.08107	4.835	0.97044650065839655	0.32126	0.05453	0.11331	N	AEFBI	0.162428	0.28860	N	-0.792760537896641	0.13498	0.6653611	-0.86251165680125	0.12987	0.6712232	2.32010766513472E-4	0.06095	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.17	1.95	0.25130	0.421000	0.20999	-0.497000	0.08825	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1145:0.2186:0.6669:0.0	6.522	0.21480	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1077.33	34	chr19	731135	.	G	A	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.336;DP=1060;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.532;SOR=0.496	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr19	757560	757560	A	G	exonic	MISP	.	nonsynonymous SNV	MISP:NM_173481:exon2:c.A614G:p.Q205R	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0467421359867	7.7e-05	.	0.0005	0	0.0003	0	0	0.0002	0	0.0021	0.0003105	48	154602	rs138591209	0.0003	0.0003	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	0	0.0002	0	0	0	0.0031	0.0002	0.0004	0.0020	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0002	0	0	0	0	0	0	0.0003	0.0005	0.0010	0.268	0.16144	T	0.133	0.34359	T	0.011	0.15914	B	0.007	0.12992	B	0.928818	0.08435	N	0.960553	0.999994	0.08975	N	1.75	0.45442	L	-0.04	0.63240	T	-0.95	0.25332	N	0.088	0.06587	-0.9348	0.43424	T	0.186	0.53511	T	10	0.014113814	0.00298	T	0.046742	0.62601	D	0.050	0.13987	.	.	0.372087925617	0.36815	0.05212438450017191	0.05154	0.0441939372007	0.04768	0.260098427534	0.04902	T	0.051998	0.29036	T	-0.505228	0.00534	T	-0.52858	0.19428	T	0.020833750554571	0.00783	T	0.429857	0.11651	T	0.04916709	0.08687	0.08118289	0.18430	0.04916709	0.08686	0.08118289	0.18429	-4.381	0.29298	T	.	.	0.092	0.13737	B	.	.	1.699458	0.21646	15.29	0.96653418886426334	0.30600	0.64726	0.32501	D	AEFBCI	0.112920	0.22301	N	-0.508947165086893	0.21790	1.158978	-0.452818355727368	0.23469	1.280042	0.0032387373511942	0.10007	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.4	2.25	0.27340	1.791000	0.38377	3.083000	0.36247	0.582000	0.30178	0.996000	0.39380	1.000000	0.68203	0.334000	0.25294	0.8057:0.0:0.1943:0.0	6.809	0.22978	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1065.33	77	chr19	757560	.	A	G	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.61;DP=958;ExcessHet=0;FS=4.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.131;SOR=0.898	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr19	760022	760022	A	G	exonic	MISP	.	nonsynonymous SNV	MISP:NM_173481:exon3:c.A1894G:p.R632G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0190022176604	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213091669	6.157e-06	6.156e-06	8.168e-06	4.126e-06	6.296e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	3.313e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.073	0.34800	T	0.048	0.48594	D	0.98	0.59353	D	0.744	0.55835	P	0.032948	0.01762	N	2.205680	1	0.08975	N	1.32	0.33002	L	1.39	0.33842	T	-3.23	0.65056	D	0.262	0.29659	-0.9885	0.32978	T	0.137	0.45375	T	10	0.19615108	0.35495	T	0.019002	0.41240	T	0.059	0.16972	0.241	0.17371	0.322510055762	0.31862	0.19562255720783794	0.19479	0.0427295893604	0.04608	0.346655666828	0.17428	T	0.065679	0.32750	T	-0.21039	0.19324	T	-0.524501	0.19839	T	0.590346038341522	0.36020	D	0.386661	0.09517	T	0.1852845	0.39884	0.20768785	0.45038	0.1852845	0.39884	0.20768785	0.45037	-4.683	0.33197	T	.	.	0.110	0.21011	B	.	.	1.993311	0.25328	16.72	0.93528417594158175	0.23349	0.16257	0.19305	N	AEFGBI	0.101247	0.20340	N	-0.174309151102858	0.34207	1.949705	-0.320916905686625	0.27424	1.521612	0.580819723300721	0.21569	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	0.724000	0.25624	2.426000	0.32709	-0.045000	0.17359	0.001000	0.13787	0.045000	0.21693	0.014000	0.10232	1.0:0.0:0.0:0.0	9.989	0.41030	994	0.00715	A-kinase anchor protein 2, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	614.33	39	chr19	760022	.	A	G	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.265;DP=720;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.006;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	18	0	1	0
chr19	805158	805158	C	T	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon8:c.C863T:p.S288L,PTBP1:NM_031990:exon8:c.C863T:p.S288L,PTBP1:NM_031991:exon8:c.C863T:p.S288L	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0162002006798	0.0008	0.000798722	0.0007	9.667e-05	8.651e-05	0	0	0.0009	0.0011	0.0016	0.0006986	108	154602	rs147259741	0.0007	0.0007	0.0007	0.0008	0.0017	0.0007	0.0007	0.0013	0.0013	2.988e-05	0.0002	0.0017	0	0	0.0017	0.0007	0.0008	0.0016	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	0.0001	0	0.0004	0.0026	0	0	0.0068	0.0009	0.0005	0.0010	0.183	0.36509	T	0.158	0.50514	T	0.003	0.13644	B	0.005	0.15521	B	0.000118	0.50451	N	0.179778	0.999998	0.58761	D	1.68	0.43186	L	0.82	0.48460	T	-2.57	0.59059	D	0.602	0.62018	-0.9381	0.42916	T	0.138	0.45508	T	10	0.025969326	0.00775	T	0.016	0.37339	T	0.187	0.46274	.	.	0.515658035153	0.51206	0.6482898041491741	0.64764	0.414700075407	0.42141	0.681794524193	0.64527	T	0.361508	0.72758	T	-0.38139	0.03054	T	-0.350696	0.39124	T	0.0416450848248553	0.03989	T	0.872413	0.58193	D	0.24728735	0.47706	0.1427836	0.33957	0.24728735	0.47706	0.1427836	0.33956	-11.146	0.80452	D	.	.	0.116	0.38172	B	.;.;.;.;.	.;.;.;.;.	4.580510	0.72362	25.8	0.97872978071970185	0.36546	0.93750	0.59084	D	AEFDBHCI	0.797838	0.72456	D	-0.478083326538137	0.22801	1.220004	-0.447878210826013	0.23609	1.288393	0.999997391400517	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.49	3.43	0.38372	5.965000	0.70100	5.983000	0.52202	-0.177000	0.10537	0.954000	0.33273	1.000000	0.68203	0.948000	0.49324	0.1653:0.8347:0.0:0.0	12.784	0.56872	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1014.33	38	chr19	805158	.	C	T	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=831;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.508;SOR=0.917	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	812611	812611	C	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_024888:exon7:c.G2200T:p.G734C,PLPPR3:NM_001270366:exon8:c.G2116T:p.G706C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.129807370837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.031	0.53788	D	0.64	0.41805	P	0.421	0.45113	B	0.003196	0.00945	U	6.291210	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.83	0.42957	N	0.175	0.18784	-1.0537	0.13386	T	0.036	0.15378	T	10	0.102490515	0.18787	T	0.129807	0.81190	D	0.061	0.17616	0.212	0.13066	0.200317383148	0.19677	0.18918016432314416	0.18836	0.794674619907	0.65992	0.663212001324	0.61869	T	0.019579	0.15574	T	-0.267582	0.12027	T	-0.622139	0.11018	T	0.226104468107224	0.21764	T	0.515548	0.16619	T	0.17331007	0.38071	0.07554092	0.16639	0.17331007	0.38071	0.07554092	0.16639	-7.47	0.58248	T	.	.	0.127	0.27009	B	.;.	.;.	0.671515	0.10401	7.123	0.9670741037867131	0.30799	0.04525	0.10155	N	AEFDBHCI	0.116551	0.22870	N	-1.19285698152684	0.05108	0.2320608	-1.27295022563282	0.04799	0.2272671	0.942625006419798	0.27530	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.65	-1.39	0.08526	-0.939000	0.04043	-0.757000	0.07552	-1.197000	0.01367	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4174:0.1463:0.4363	6.236	0.19973	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	31.8	5	chr19	812611	.	C	A	31.8	.	AC=2;AF=0.063;AN=32;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.4119;MLEAC=1;MLEAF=0.031;MQ=60;QD=15.9;SOR=0.693	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,384	15	1	0	3
chr19	813580	813580	G	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_024888:exon7:c.C1231T:p.P411S,PLPPR3:NM_001270366:exon8:c.C1147T:p.P383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.11600699912	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220820905	2.138e-06	8.893e-06	1.409e-06	2.884e-06	8.238e-05	5.7e-07	1.6e-07	2.183e-05	1.105e-05	0	0	0	8.238e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.059	0.45961	T	0.274	0.43566	B	0.16	0.42942	B	0.003826	0.34438	U	0.225765	0.996652	0.43334	D	.	.	.	1.52	0.30669	T	-3.43	0.67359	D	0.331	0.47949	-0.9685	0.37510	T	0.103	0.37844	T	10	0.28060505	0.45635	T	0.116007	0.79536	D	0.173	0.43840	0.205	0.12076	0.465294738428	0.46155	0.32685404325696754	0.32598	1.20439237927	0.80646	0.729490876198	0.71432	T	0.067421	0.33199	T	-0.116277	0.33733	T	-0.404801	0.32827	T	0.782616913318634	0.45214	D	0.820618	0.72230	T	0.19022903	0.40599	0.1940192	0.43002	0.19022903	0.40599	0.1940192	0.43001	-3.502	0.16798	T	.	.	0.118	0.24192	B	.;.	.;.	2.804154	0.36894	20.4	0.9981250693591337	0.89620	0.99459	0.96293	D	AEFDGBHCI	0.901826	0.84899	D	0.162650489689741	0.49413	3.141938	0.170153816148647	0.48218	3.040881	0.999999909690352	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	4.13	4.13	0.47661	5.396000	0.66042	11.702000	0.94515	0.468000	0.21784	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:1.0:0.0	15.382	0.74383	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	650.33	35	chr19	813580	.	G	A	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=715;ExcessHet=0;FS=1.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.346;SOR=0.426	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1207	18	0	1	0
chr19	815254	815254	G	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_001270366:exon4:c.C335T:p.A112V,PLPPR3:NM_024888:exon4:c.C335T:p.A112V	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	7.9e-05	0.00599042	0.0049	0	0.0007	0.0795	0	0.0009	0.0042	0.0030	0.0020828	322	154602	rs148299276	0.0018	0.0018	0.0017	0.0018	0.0537	0.0017	0.0017	0.0517	0.0509	6.246e-05	2.601e-05	0.0003	0.0537	0.0003	0.0009	0.0001	0.0019	0.0032	0.0015	0.0015	0.0012	0.0017	0.0332	0.0013	0.0012	0.0291	0.0276	0	0	0	0.0006	0.0332	0.0002	0	0.0002	0.0005	0.0066	0.277	0.15665	T	0.513	0.10714	T	0.003	0.14184	B	0.003	0.08700	B	0.001313	0.39449	N	0.168341	1	0.08975	N	.	.	.	0.76	0.49919	T	-1.23	0.31170	N	0.12	0.11054	-1.0629	0.11045	T	0.038	0.16548	T	10	0.0038315356	0.00072	T	.	.	.	0.066	0.19193	.	.	0.320256813643	0.31633	0.6039633367690228	0.60327	0.38731986894	0.40012	0.416379183531	0.27339	T	0.014386	0.12256	T	-0.568202	0.00227	T	-0.565275	0.15884	T	0.0115223211435003	0.00174	T	0.343166	0.09932	T	0.0318281	0.03093	0.034881465	0.02636	0.0318281	0.03093	0.034881465	0.02635	-5.629	0.43057	T	.	.	0.093	0.14155	B	.;.;.	.;.;.	2.205191	0.28130	17.69	0.98485630822496351	0.42037	0.30763	0.24166	N	AEFDBHCI	0.236743	0.35914	N	-0.690012755250025	0.16305	0.8295428	-0.700503380688525	0.16948	0.8989428	0.999846484721106	0.43971	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	4.33	3.28	0.36691	3.444000	0.52678	8.178000	0.76772	0.569000	0.28856	0.389000	0.26079	1.000000	0.68203	0.022000	0.11911	0.1137:0.0:0.8863:0.0	9.157	0.36162	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005280	0.000000	0.005479	0.000000	0.000000	0.008929	0.012658	0.011538	0.02632	2372.33	40	chr19	815254	.	G	A	2372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.353;DP=989;ExcessHet=0;FS=9.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.114;SOR=0.547	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	821549	821549	G	C	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_001270366:exon2:c.C11G:p.T4S,PLPPR3:NM_024888:exon2:c.C11G:p.T4S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0913580702069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.436e-07	2.736e-06	0	1.512e-06	1.347e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.347e-05	6.576e-06	6.567e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.23813	T	0.477	0.12491	T	0.001	0.07471	B	0.004	0.10090	B	0.746247	0.06457	N	1.150040	1	0.08975	N	.	.	.	1.23	0.36872	T	0.17	0.05125	N	0.036	0.02179	-1.0303	0.20357	T	0.035	0.15160	T	10	0.08706701	0.14862	T	0.091358	0.75691	D	0.118	0.32913	0.106	0.01810	0.222439326576	0.21863	0.4493458937653377	0.44852	0.358995011599	0.37601	0.551267027855	0.46036	T	0.007153	0.06566	T	-0.321263	0.06795	T	-0.699249	0.05867	T	0.327110379934311	0.26108	T	0.539146	0.18203	T	0.04519919	0.07359	0.053720735	0.09104	0.04519919	0.07358	0.053720735	0.09103	-2.862	0.08769	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.455657	0.18774	13.92	0.81278318105880198	0.13606	0.51232	0.28848	D	AEFDBHCI	0.258539	0.37706	N	-0.818197873455922	0.12846	0.6288243	-0.743539159423442	0.15881	0.8374469	0.999999979146973	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.699875	0.68795	0	.	.	3.65	-0.0531	0.13150	1.874000	0.39205	3.783000	0.39798	0.434000	0.20985	0.517000	0.27088	1.000000	0.68203	0.632000	0.32210	0.1077:0.1711:0.3716:0.3496	1.977	0.03210	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1291.33	33	chr19	821549	.	G	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.789;DP=747;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.573;SOR=0.868	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	18	0	1	0
chr19	846150	846150	A	G	exonic	PRTN3	.	nonsynonymous SNV	PRTN3:NM_002777:exon4:c.A373G:p.S125G	.	390	1123	8	1	0	10	0.00443262	.	.	.	3379442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	0.188648314331	8e-05	0.000399361	0.0003	0	0	0	0	0.0007	0	0	0.0001682	26	154602	rs144775105	0.0003	0.0003	0.0003	0.0003	0.0100	0.0003	0.0003	0.0078	0.0070	0.0002	0.0012	0.0007	0	0	0.0100	0.0002	0.0007	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0004	0.0003	0	0	0.0034	0.0003	0.0009	0	0.024	0.47745	D	0.21	0.41742	T	0.614	0.39766	P	0.058	0.26451	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	-2.53	0.89430	D	-1.81	0.42575	N	0.135	0.17966	-0.5498	0.66794	T	0.482	0.80200	T	9	0.04023406	0.02575	T	0.188648	0.86014	D	0.315	0.63694	.	.	0.706402102298	0.70384	0.35806606532598667	0.35720	0.227410735123	0.25290	0.393678486347	0.24187	T	0.351077	0.75218	T	-0.275162	0.11189	T	-0.316871	0.42916	T	0.0170078156144058	0.00449	T	0.450155	0.12692	T	0.22363116	0.44987	0.09967294	0.23806	0.22363116	0.44987	0.09967294	0.23806	-5.658	0.43318	T	.	.	0.136	0.29505	B	.;.	.;.	1.274545	0.16738	12.73	0.9216586593873598	0.21528	0.00337	0.01752	N	AEFBI	0.025474	0.01750	N	-1.02750158916183	0.08036	0.3753991	-1.27705179497033	0.04742	0.2244028	0.98753860146513	0.31287	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.11	-6.22	0.01881	-0.416000	0.07162	-0.513000	0.08734	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4866:0.1522:0.3612:0.0	5.151	0.14337	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005735	0.005263	0.006906	0.012195	0.000000	0.009259	0.003226	0.003937	0.02632	880.33	36	chr19	846150	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.106;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.096;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1421	18	0	1	0
chr19	856130	856130	C	T	exonic	ELANE	.	nonsynonymous SNV	ELANE:NM_001972:exon5:c.C770T:p.P257L	Neutropenia, cyclic, Autosomal dominant;Neutropenia, severe congenital 1, autosomal dominant, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	257299	Neutropenia,_severe_congenital,_1,_autosomal_dominant|Cyclical_neutropenia|Autoinflammatory_syndrome|not_provided|not_specified	MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700|Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	.	0.0077	0.00519169	0.0060	0.0013	0.0064	0	0.0008	0.0081	0.0079	0.0057	0.0061448	950	154602	rs17216663	0.0076	0.0076	0.0075	0.0077	0.0107	0.0075	0.0074	0.0086	0.0082	0.0017	0.0083	0.0127	0	0.0012	0.0107	0.0084	0.0073	0.0056	0.0059	0.0059	0.0062	0.0055	0.0091	0.0055	0.0054	0.0085	0.0082	0.0013	0.0011	0.0088	0.0078	0	0.0008	0.0102	0.0091	0.0090	0.0064	0.008	0.58626	D	0.197	0.27855	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.979218	0.25197	N	1.385	0.34509	L	-2.47	0.88997	D	-0.97	0.25770	N	0.191	0.20925	-0.6932	0.60759	T	0.330	0.69792	T	9	0.0060737133	0.00136	T	.	.	.	0.122	0.33800	.	.	0.629560987919	0.62653	0.5437504112375167	0.54301	0.564959735949	0.52855	0.355158269405	0.18679	T	0.333962	0.70375	T	-0.329213	0.06171	T	-0.236273	0.51162	T	0.0222328351555962	0.00935	T	0.381362	0.09225	T	0.05828733	0.11709	0.09174262	0.21584	0.054917492	0.10601	0.0659258	0.13431	-4.083	0.25039	T	.	.	0.096	0.15206	B	.;.	.;.	1.513561	0.19439	14.26	0.90103442402545098	0.19385	0.10613	0.16070	N	AEFGBI	0.063733	0.12334	N	-0.993156792222934	0.08749	0.4114283	-1.01747891032933	0.09401	0.4675117	0.0713684615949456	0.15564	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	1.22	0.20300	0.526000	0.22680	1.601000	0.27583	0.473000	0.21965	0.001000	0.13787	0.016000	0.20520	0.027000	0.12703	0.0:0.6614:0.2123:0.1263	5.208	0.14623	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.005051	0.010870	0.011696	0.050000	0.008621	0.012195	0.007576	0.05263	3165.83	34	chr19	856130	.	C	T	3165.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.728;DP=839;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.167;SOR=0.854	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1254	17	0	2	0
chr19	984371	984371	G	T	exonic	WDR18	.	nonsynonymous SNV	WDR18:NM_024100:exon1:c.G18T:p.E6D,WDR18:NM_001372085:exon3:c.G18T:p.E6D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.445973322495	.	0.000798722	0.0004	0	0	0	0	1.952e-05	0	0.0029	0.0003105	48	154602	rs531751106	0.0002	0.0002	8.133e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	9.049e-07	0.0002	0.0025	0.0001	0.0001	6.424e-05	0.0001	0.0033	6.505e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999734	0.48635	D	2.415	0.69758	M	-0.73	0.73100	T	.	.	.	0.464	0.50056	-0.2115	0.77375	T	0.484	0.80311	T	10	0.010939896	0.00241	T	0.445973	0.94253	D	.	.	0.255	0.19533	0.508465569856	0.50487	0.7136511410830638	0.71308	.	.	0.838607549667	0.87883	D	0.211908	0.57281	T	-0.291934	0.09443	T	-0.197357	0.54896	T	0.255399286746979	0.23113	T	0.840916	0.51656	T	0.7016232	0.78145	0.67028964	0.80655	0.7016232	0.78147	0.67028964	0.80656	-8.208	0.62479	D	.	.	0.947	0.86575	P	.;.	.;.	3.363388	0.46445	22.3	0.99655544063519275	0.77568	0.19532	0.20697	N	ALL	0.223968	0.34826	N	0.226290721159827	0.52477	3.421536	0.0725466095897727	0.43173	2.624636	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.3	-1.9	0.07248	0.092000	0.14905	0.410000	0.18100	0.662000	0.56354	0.981000	0.35396	0.976000	0.30059	0.998000	0.85391	0.5306:0.0:0.4694:0.0	8.657	0.33233	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1028.33	33	chr19	984371	.	G	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.149;DP=774;ExcessHet=0;FS=3.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=2.67;SOR=1.107	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,103,1329	18	0	1	0
chr19	1080897	1080897	C	A	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001282334:exon7:c.C928A:p.L310I,ARHGAP45:NM_001282335:exon16:c.C1672A:p.L558I,ARHGAP45:NM_001258328:exon17:c.C2071A:p.L691I,ARHGAP45:NM_001321232:exon17:c.C2035A:p.L679I,ARHGAP45:NM_012292:exon17:c.C2023A:p.L675I	.	411	1101	9	1	0	11	0.00497063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0095584506045	0.0002	0.000399361	0.0006	0	0	0.0001	0	0.0003	0	0.0027	0.0004075	63	154602	rs377173699	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	2.995e-05	6.747e-05	0.0002	7.581e-05	3.89e-05	0.0017	0.0002	0.0004	0.0026	0.0002	0.0002	0.0002	0.0001	0.0021	0.0001	9.234e-05	0.0011	0.0009	4.81e-05	0	6.536e-05	0	0	0	0	0.0002	0	0.0021	0.454	0.08891	T	0.854	0.04091	T	0.006	0.13644	B	0.01	0.14941	B	0.000136	0.49741	D	0.125367	0.998815	0.45492	D	0.01	0.07948	N	2.14	0.20255	T	-0.37	0.13226	N	0.209	0.23253	-1.0405	0.17162	T	0.025	0.10688	T	10	0.008266717	0.00187	T	0.009558	0.25016	T	0.045	0.12272	.	.	0.0920862733494	0.08535	0.2661182590889585	0.26524	0.78196987269	0.65341	0.688170790672	0.65442	T	0.006296	0.05736	T	-0.585436	0.00179	T	-0.619573	0.11219	T	0.0229070145047508	0.01012	T	0.80032	0.44603	T	0.12185906	0.28647	0.063722275	0.12664	0.12185906	0.28646	0.063722275	0.12664	-5.424	0.42692	T	.	.	0.083	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	1.629214	0.20803	14.92	0.8757765611842091	0.17328	0.44702	0.27376	N	AEFDBHI	0.166492	0.29308	N	-0.462172509709896	0.23328	1.252014	-0.290870707125877	0.28398	1.583122	0.99941372988987	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.19	4.19	0.48645	2.393000	0.44096	6.063000	0.53189	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	0.3368:0.6631:0.0:0.0	9.870	0.40339	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003817	0.02632	1199.33	48	chr19	1080897	.	C	A	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=879;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.242;SOR=0.998	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr19	1106263	1106263	C	T	exonic	GPX4	.	unknown	UNKNOWN	Spondylometaphyseal dysplasia, Sedaghatian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	716139	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0016	0.00259585	0.0006	0.0062	0.0002	0	0	0.0002	0	0	0.0005498	85	154602	rs14283	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0049	0.0046	0.0055	0.0002	0	0	5.766e-05	0.0002	8.226e-05	0.0004	2.325e-05	0.0017	0.0017	0.0018	0.0016	0.0060	0.0015	0.0015	0.0054	0.0051	0.0060	0	0.0004	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.471863	0.00828	T	-0.448656	0.27845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.366764	0.17764	13.36	0.90345821007704885	0.19610	0.62024	0.31657	D	AEFDBHCI	0.058923	0.11091	N	.	.	.	.	.	.	0.999999872333567	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.32	2.13	0.26445	-0.056000	0.11744	-0.377000	0.09567	-0.182000	0.10109	0.895000	0.31310	0.117000	0.22861	0.968000	0.53726	0.0:0.6037:0.0:0.3963	6.782	0.22837	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.010204	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1423.33	35	chr19	1106263	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.667;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1183	18	0	1	0
chr19	1108443	1108443	G	T	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon29:c.C3707A:p.T1236N,SBNO2:NM_014963:exon32:c.C3878A:p.T1293N	.	.	.	.	.	.	.	.	.	.	.	2260920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0440579499335	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379906639	2.101e-05	2.668e-05	1.94e-05	2.275e-05	0.0007	1.399e-05	1.169e-05	0.0001	5.278e-05	0	0	0	0	0	0.0007	1.518e-05	7.141e-05	9.74e-05	1.336e-05	1.316e-05	1.304e-05	1.369e-05	2.982e-05	2.22e-06	8.3e-07	4.95e-06	1.85e-06	0	0	0	0	0	0	0	2.982e-05	0	0	0.107	0.29554	T	0.041	0.51737	D	0.037	0.27697	B	0.011	0.20508	B	0.225340	0.03483	N	1.664540	1	0.08975	N	1.59	0.40313	L	.	.	.	-0.08	0.08187	N	0.072	0.04547	-1.0140	0.25656	T	0.071	0.28904	T	9	0.054237396	0.05742	T	0.044058	0.61297	D	0.021	0.04004	0.265	0.21103	0.207176502487	0.20327	0.17656208217820749	0.17575	0.487052867703	0.47545	0.719800710678	0.70017	T	0.014795	0.12528	T	-0.297359	0.08911	T	-0.664912	0.07939	T	0.0692295604543093	0.08543	T	.	.	.	0.042023808	0.06298	0.042847354	0.05196	0.042023808	0.06298	0.042847354	0.05196	-4.531	0.31292	T	.	.	0.084	0.17317	B	.;.;.	.;.;.	0.637944	0.10061	6.813	0.75194142914670681	0.10981	0.16776	0.19544	N	AEFBHCI	0.075605	0.15188	N	-1.20001837857646	0.05001	0.2269605	-1.25558772732373	0.05049	0.2396546	0.999990659648494	0.74766	0.634777	0.41761	0	0.71359	0.82159	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.4	-0.11	0.12919	2.229000	0.42634	4.757000	0.44693	-0.219000	0.08017	0.040000	0.20979	0.937000	0.28687	0.002000	0.04165	0.3156:0.0:0.6844:0.0	6.789	0.22874	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.34	19	chr19	1108443	.	G	T	292.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=380;ExcessHet=0;FS=1.283;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.881;SOR=1.008	GT:AD:DP:GQ:PL	0/0:38,0:38:96:0,96,1440	18	0	1	0
chr19	1114371	1114371	G	A	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon15:c.C1766T:p.A589V,SBNO2:NM_014963:exon18:c.C1937T:p.A646V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00299393911874	0.0005	0.00159744	0.0006	0.0040	0	0	0	0.0003	0	0	0.000207	32	154602	rs200419778	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0019	0.0017	0.0023	0.0003	0	0	0	0.0004	0.0002	0.0002	1.26e-05	0.0007	0.0007	0.0008	0.0006	0.0025	0.0006	0.0006	0.0021	0.0020	0.0025	0	0.0002	0	0	0	0	0.0001	0	0	0.224	0.21968	T	0.285	0.21545	T	0.05	0.22331	B	0.007	0.14941	B	0.457133	0.04848	N	1.315340	1	0.08975	N	1.645	0.42016	L	.	.	.	-0.98	0.25986	N	0.161	0.16864	-1.0029	0.29080	T	0.035	0.15074	T	9	0.007007152	0.00159	T	0.002994	0.06398	T	0.008	0.00669	.	.	0.119812018005	0.11559	0.3527283297418016	0.35186	0.214305633905	0.23962	0.484899580479	0.36732	T	0.023004	0.17639	T	-0.605778	0.00134	T	-0.649411	0.08995	T	0.00214616904123887	0.00022	T	.	.	.	0.09217559	0.21617	0.04551894	0.06144	0.09217559	0.21617	0.04551894	0.06143	-4.596	0.32658	T	.	.	0.084	0.12655	B	.;.;.	.;.;.	1.168414	0.15580	11.95	0.97929293780866367	0.36942	0.19911	0.20843	N	AEFDBHCI	0.119518	0.23324	N	-0.790689530368887	0.13552	0.6684189	-0.918280853011513	0.11664	0.5955551	0.999998172600995	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.09	0.425	0.15689	0.356000	0.19918	2.183000	0.31145	-0.128000	0.13240	0.000000	0.06391	0.028000	0.21151	0.000000	0.00833	0.1979:0.4886:0.3135:0.0	5.818	0.17765	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	837.33	35	chr19	1114371	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.18;SOR=0.705	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr19	1221980	1221980	C	A	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon7:c.C894A:p.F298L	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	.	.	.	.	.	.	.	.	.	YES	133164	STK11-related_disorder|Peutz-Jeghers_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Carcinoma_of_pancreas|Germ_cell_tumor_of_testis|Melanoma,_cutaneous_malignant,_susceptibility_to,_1|Familial_pancreatic_carcinoma	.|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,Orphanet:1333,Orphanet:217074|MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618|MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.0835541101495	0.0005	0.000798722	0.0002	0.0018	0	0	0	0	0	0	0.0001682	26	154602	rs199681533	9.528e-05	0.0001	0.0001	7.847e-05	0.0035	8.21e-05	7.667e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0	2.752e-06	0.0002	0	0.0009	0.0009	0.0008	0.0010	0.0032	0.0008	0.0007	0.0027	0.0026	0.0032	0	0.0003	0	0	0	0	0	0.0005	0	0.434	0.09430	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	0.000006	0.62929	N	0.146687	0.999997	0.58761	D	-0.955	0.01252	N	-1.48	0.81150	T	-1.85	0.43334	N	0.36	0.40164	-1.0198	0.23780	T	0.144	0.46714	T	10	0.013816625	0.00292	T	0.083554	0.74139	D	0.288	0.60691	0.414	0.45216	0.304565745084	0.30068	0.7477131475894369	0.74717	0.0474294838818	0.05171	0.685159087181	0.65011	T	0.306327	0.73998	T	-0.44462	0.01215	T	-0.415433	0.31599	T	0.0318039651865356	0.02274	T	0.819918	0.47811	T	0.41548017	0.61789	0.17714342	0.40297	0.41548017	0.61790	0.17714342	0.40296	-2.331	0.04728	T	0.10923123565218697	0.09096	0.804	0.77456	P	.;.	.;.	1.758573	0.22369	15.59	0.97776338546630415	0.35906	0.72359	0.35419	D	AEFDBCI	0.405347	0.47827	N	-0.904143254244823	0.10744	0.5149663	-0.746237084472267	0.15814	0.8336125	0.999990737751047	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.56	-0.909	0.09979	-0.228000	0.09119	-0.194000	0.11009	0.599000	0.40250	0.598000	0.27730	0.485000	0.25122	0.995000	0.73285	0.0:0.6127:0.0:0.3873	9.645	0.39028	958	0.09170	Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1111.33	33	chr19	1221980	.	C	A	1111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=727;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.13;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr19	1233512	1233512	G	C	exonic	CBARP	.	nonsynonymous SNV	CBARP:NM_152769:exon8:c.C893G:p.A298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0667501106284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.876e-07	1.368e-06	0	1.383e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.033	0.60972	D	.	.	.	.	.	.	0.000015	0.62929	D	0.066251	1	0.81001	D	.	.	.	1.92	0.23082	T	-3.17	0.64363	D	0.573	0.67564	-0.8895	0.48978	T	0.132	0.44386	T	10	0.45990667	0.59220	T	0.06675	0.69967	D	0.210	0.50028	.	.	0.577997890147	0.57469	0.12314320666745014	0.12240	0.438255260108	0.43864	.	.	.	0.538757	0.84168	D	-0.019262	0.48959	T	-0.265445	0.48278	T	0.993022263050079	0.83672	D	0.89651	0.63872	D	0.15207754	0.34539	0.2421917	0.49634	0.15207754	0.34539	0.2421917	0.49633	-7.452	0.57272	T	.	.	0.499	0.67238	A	.;.;.	.;.;.	4.986163	0.82625	27.8	0.99777358286891271	0.86433	0.88842	0.48968	D	AEFBCI	0.693025	0.65249	D	0.63374181799157	0.75319	6.285203	0.587345647257828	0.74031	6.068563	0.999999999999556	0.74766	0.646311	0.45356	0	0.844039	0.99811	0	0.645312	0.48771	0	0.662433	0.64102	0	.	.	4.19	4.19	0.48645	7.070000	0.76454	11.661000	0.93987	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	15.595	0.76314	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr19	1233512	.	G	C	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=732;ExcessHet=0;FS=6.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.951;SOR=1.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	18	0	1	0
chr19	1234618	1234618	T	G	exonic	CBARP	.	nonsynonymous SNV	CBARP:NM_152769:exon6:c.A580C:p.T194P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0142171192296	0.0005	0.000798722	0.0003	0.0038	0	0	0	0	0	0	0.0002199	34	154602	rs148059894	0.0001	9.987e-05	0.0001	8.143e-05	0.0036	8.672e-05	8.159e-05	0.0031	0.0029	0.0036	0.0002	0	0	0	0	7.203e-06	0.0001	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	1.472e-05	0.0005	0	0.175	0.22400	T	0.279	0.21745	T	.	.	.	.	.	.	0.577025	0.11180	N	0.742908	1	0.08975	N	.	.	.	.	.	.	-2.92	0.61129	D	0.163	0.17140	-1.0296	0.20583	T	0.045	0.19518	T	9	0.008153498	0.00185	T	0.014217	0.34189	T	0.013	0.01715	.	.	0.15556083564	0.15200	0.41404819856553743	0.41320	0.12641451465	0.14248	.	.	.	0.152099	0.49235	T	-0.502892	0.00551	T	-0.497567	0.22601	T	0.00544741349122154	0.00059	T	0.310469	0.06505	T	0.10684638	0.25263	0.059875328	0.11311	0.10684638	0.25263	0.059875328	0.11311	-2.166	0.03879	T	.	.	0.073	0.11845	B	.;.;.	.;.;.	0.388815	0.07604	4.265	0.61861957920646227	0.06816	0.52799	0.29218	D	AEFDBI	0.216259	0.34153	N	-0.954937910276064	0.09582	0.45414	-0.977315587621505	0.10296	0.5176271	0.999963276029747	0.48965	0.695654	0.57023	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.06	0.687	0.17184	0.730000	0.25711	0.241000	0.16308	0.576000	0.29215	0.003000	0.16062	0.726000	0.26384	0.003000	0.05239	0.0:0.1416:0.2438:0.6146	3.681	0.07843	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	652.33	39	chr19	1234618	.	T	G	652.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=741;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.417;SOR=0.91	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1268	18	0	1	0
chr19	1360735	1360735	G	A	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.G610A:p.D204N,PWWP3A:NM_001369793:exon4:c.G445A:p.D149N,PWWP3A:NM_001369789:exon5:c.G814A:p.D272N,PWWP3A:NM_001369790:exon5:c.G814A:p.D272N,PWWP3A:NM_001369794:exon5:c.G814A:p.D272N,PWWP3A:NM_001382408:exon5:c.G814A:p.D272N,PWWP3A:NM_001382409:exon5:c.G814A:p.D272N,PWWP3A:NM_001382410:exon5:c.G814A:p.D272N,PWWP3A:NM_032853:exon5:c.G814A:p.D272N	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00975185726149	.	.	.	.	.	.	.	.	.	.	.	.	.	rs935123510	1.643e-05	1.71e-05	1.499e-05	1.789e-05	1.979e-05	1.112e-05	9.34e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	3.315e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.518	0.07307	T	0.532	0.10034	T	.	.	.	.	.	.	0.011505	0.01308	N	2.926850	1	0.08975	N	.	.	.	1.9	0.23884	T	-0.39	0.13611	N	0.069	0.07125	-1.0422	0.16651	T	0.030	0.13111	T	10	0.0534755	0.05545	T	0.009752	0.25449	T	0.010	0.01040	.	.	0.0611884634855	0.05136	.	.	.	.	0.354171812534	0.18534	T	.	.	.	-0.384371	0.02923	T	-0.789899	0.02167	T	0.0552324838936329	0.06396	T	0.59724	0.22223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.090192	0.04941	1.512	0.75103883032752694	0.10947	0.05522	0.11413	N	AEFDBCI	0.049727	0.08621	N	-1.59402896006049	0.01295	0.05636613	-1.67681053947234	0.01243	0.05602341	0.999999993712069	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.778255	0.98755	0	0.735409	0.98432	0	.	.	3.47	-5.59	0.02305	-0.360000	0.07674	0.645000	0.20357	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2805:0.4485:0.271:0.0	6.032	0.18910	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1490.33	38	chr19	1360735	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=816;ExcessHet=0;FS=3.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.043;SOR=1.152	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1504,0,1340	18	0	1	0
chr19	1360934	1360934	C	T	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.C809T:p.T270I,PWWP3A:NM_001369793:exon4:c.C644T:p.T215I,PWWP3A:NM_001369789:exon5:c.C1013T:p.T338I,PWWP3A:NM_001369790:exon5:c.C1013T:p.T338I,PWWP3A:NM_001369794:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382408:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382409:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382410:exon5:c.C1013T:p.T338I,PWWP3A:NM_032853:exon5:c.C1013T:p.T338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0119547884915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.239e-05	1.231e-05	1.579e-05	8.887e-06	1.593e-05	7.55e-06	6.17e-06	9.7e-06	7.93e-06	0	0	0	0	0	0	1.593e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.059	0.48855	T	.	.	.	.	.	.	0.007352	0.01164	N	2.620390	1	0.08975	N	.	.	.	1.83	0.25182	T	-1.23	0.31170	N	0.037	0.02088	-1.0338	0.19236	T	0.037	0.16160	T	10	0.09977922	0.18128	T	0.011955	0.30076	T	0.023	0.04649	.	.	0.115124310173	0.11017	.	.	.	.	0.538062751293	0.44171	T	.	.	.	-0.330314	0.06088	T	-0.712249	0.05180	T	0.213499128818512	0.21135	T	0.439856	0.12136	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18372	B	.;.;.	.;.;.	-0.156183	0.03322	0.580	0.98402447658846404	0.41084	0.10025	0.15643	N	AEFDBHCIJ	0.064674	0.12573	N	-0.903807475544857	0.10752	0.5153796	-0.982266760703441	0.10184	0.5112918	0.999999999569092	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.26897	0.05253	2	0.678554	0.66404	0	.	.	3.48	1.22	0.20300	-0.917000	0.04134	-0.579000	0.08386	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4461:0.4287:0.1252	5.087	0.14022	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	497.33	38	chr19	1360934	.	C	T	497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=746;ExcessHet=0;FS=2.31;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.242;SOR=0.845	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1263	18	0	1	0
chr19	1456369	1456369	C	G	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon7:c.C778G:p.P260A,APC2:NM_005883:exon8:c.C781G:p.P261A	.	421	1086	15	0	0	15	0.00685871	.	.	.	756758	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.389	.	0.0002	0.00219649	0.0024	0	0.0001	0.0002	0	0.0004	0.0017	0.0141	0.0014036	217	154602	rs142402932	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	8.996e-05	0.0002	0	5.056e-05	0	0.0049	9.186e-05	0.0012	0.0104	0.0004	0.0004	0.0003	0.0005	0.0083	0.0003	0.0003	0.0063	0.0055	0	0	0	0	0	0	0	0.0002	0.0009	0.0083	0.112	0.28900	T	0.371	0.26714	T	0.999	0.77913	D	0.986	0.76916	D	0.148973	0.18032	N	0.504726	1	0.81001	D	.	.	.	-3.2	0.93231	D	-3.49	0.68056	D	0.306	0.34552	0.379	0.88775	D	0.784	0.92666	D	10	0.0056124926	0.00124	T	.	.	.	0.389	0.70521	.	.	0.714506882058	0.71200	0.23941385464667617	0.23855	1.25408016346	0.81871	0.394693702459	0.24328	T	0.335134	0.70479	T	-0.264932	0.12327	T	-0.145371	0.59651	T	0.047867619714307	0.05119	T	0.767723	0.41282	T	0.122900784	0.28870	0.15135421	0.35656	0.14543363	0.33337	0.14691503	0.34788	-3.863	0.21749	T	.	.	0.067	0.09723	B	.;.;.;.	.;.;.;.	2.533035	0.32752	19.14	0.99580103929640629	0.72921	0.21987	0.21593	N	AEFDGBCI	0.085274	0.17286	N	-0.0377880999054481	0.40150	2.379502	-0.0591180286943421	0.37098	2.167643	0.977823280821432	0.29858	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.620976	0.48614	0	.	.	4.66	2.52	0.29514	0.415000	0.20901	1.025000	0.23435	0.524000	0.24156	0.002000	0.15269	0.355000	0.24491	0.992000	0.67800	0.0:0.7785:0.0:0.2215	6.470	0.21205	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002541	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.015385	0.05263	1055.83	33	chr19	1456369	.	C	G	1055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.757;DP=725;ExcessHet=0.119;FS=1.565;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.35;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	17	0	2	0
chr19	1467216	1467224	CGGGGGCGC	-	exonic	APC2	.	nonframeshift deletion	APC2:NM_001351273:exon14:c.3912_3920del:p.G1309_G1311del,APC2:NM_005883:exon15:c.3915_3923del:p.G1310_G1312del	.	.	.	.	.	.	.	.	.	.	.	2098582	not_provided|APC2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0002	0.0001	0.0017	0	0.0006	0	0	0.0003234	50	154602	rs780779777	0.0008	0.0007	0.0008	0.0008	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	0.0005	0.0009	0.0007	0.0002	0.0008	0.0008	0.0009	0.0002	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0005	0.0004	0	0.0004	0.0006	0.0008	9.441e-05	0	0.0007	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1070.29	33	chr19	1467215	.	GCGGGGGCGC	G	1070.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=0.984;SOR=0.844	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1339	18	0	1	0
chr19	1467630	1467630	C	G	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon14:c.C4326G:p.H1442Q,APC2:NM_005883:exon15:c.C4329G:p.H1443Q	.	390	1129	3	0	0	3	0.00132685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.750309480576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.497e-06	2.052e-06	1.474e-06	1.52e-06	2.728e-05	2.5e-07	9e-08	4.53e-06	1.69e-06	0	0	0	0	0	0	0	0	2.728e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.562	0.09052	T	0.148	0.27908	B	0.032	0.22131	B	0.014501	0.28517	N	0.198662	1	0.81001	D	.	.	.	-3.01	0.92208	D	-2.65	0.56787	D	0.09	0.09772	-0.4730	0.69620	T	0.560	0.83956	D	10	0.20243347	0.36363	T	0.750309	0.98008	D	0.157	0.40909	0.208	0.12497	0.555794988782	0.55239	0.17555650747066226	0.17474	0.556767773663	0.52318	0.689147949219	0.65583	T	0.303002	0.67537	T	-0.0788709	0.39899	T	-0.351069	0.39082	T	0.166537884778001	0.18341	T	0.522748	0.17058	T	0.10261352	0.24248	0.19092576	0.42523	0.10261352	0.24248	0.19092576	0.42522	-2.759	0.07812	T	.	.	0.142	0.31330	B	.;.	.;.	0.763847	0.11336	7.956	0.62637814483081022	0.07014	0.47496	0.27996	N	AEFDBCI	0.138345	0.25962	N	-0.817791660409155	0.12856	0.629405	-0.853279236929474	0.13208	0.6839722	0.999239593144045	0.38840	0.59774	0.34471	0	0.514364	0.08380	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.52	2.32	0.27895	-0.067000	0.11538	-0.150000	0.11428	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.802:0.0:0.198	8.281	0.31058	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	333.33	35	chr19	1467630	.	C	G	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.898;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=-0.289;SOR=0.769	GT:AD:DP:GQ:PL	0/1:33,15:48:99:347,0,855	18	0	1	0
chr19	1468541	1468541	G	A	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon14:c.G5237A:p.S1746N,APC2:NM_005883:exon15:c.G5240A:p.S1747N	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.521187253161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.911e-07	4.104e-06	0	1.394e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.189	0.28575	T	0.003	0.11197	B	0.001	0.04355	B	0.010859	0.01288	N	2.607580	1	0.08975	N	.	.	.	-3.04	0.92357	D	-0.54	0.16598	N	0.033	0.00882	-0.4576	0.70148	T	0.533	0.82699	D	10	0.110044	0.20554	T	0.521187	0.95448	D	0.102	0.29158	0.188	0.09776	0.407756890619	0.40387	0.12546774351382212	0.12472	0.51541283519	0.49451	0.490313112736	0.37482	T	0.218441	0.58117	T	-0.1469	0.28798	T	-0.448788	0.27830	T	0.280924290418625	0.24210	T	0.367163	0.08573	T	0.0787204	0.17943	0.056334924	0.10045	0.0787204	0.17942	0.056334924	0.10045	-5.711	0.43791	T	.	.	0.101	0.20819	B	.;.	.;.	0.229324	0.06106	2.552	0.91454595736564281	0.20724	0.07901	0.13890	N	AEFDGBCI	0.070057	0.13892	N	-1.23368600135301	0.04519	0.2041296	-1.30287243923495	0.04393	0.2071063	0.999926795541351	0.46280	0.65757	0.49021	0	0.596491	0.49125	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.63	-1.65	0.07849	0.024000	0.13447	3.947000	0.40646	-0.964000	0.01968	0.000000	0.06391	0.722000	0.26360	0.011000	0.09372	0.205:0.2843:0.3667:0.1441	1.730	0.02754	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1033.33	39	chr19	1468541	.	G	A	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=753;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-2.02;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,107,1191	18	0	1	0
chr19	1754551	1754551	G	A	exonic	ONECUT3	.	nonsynonymous SNV	ONECUT3:NM_001080488:exon1:c.G889A:p.G297R	.	469	1050	3	0	0	3	0.00142653	.	.	.	3370562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.379799464914	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868384237	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0006	0.0001	3.58e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0004	9.002e-05	7.53e-05	0.0001	0.0001	2.442e-05	0	6.781e-05	0	0	0	0	0.0002	0.0005	0.0004	0.355	0.12109	T	0.584	0.08390	T	0.865	0.47557	P	0.114	0.31755	B	0.175215	0.03141	U	2.034260	0.988557	0.24397	N	0.895	0.22405	L	-2.01	0.85468	D	0.83	0.01787	N	0.188	0.20528	-0.6319	0.63490	T	0.307	0.67759	T	10	0.15465486	0.29166	T	0.379799	0.92944	D	0.243	0.54921	0.232	0.16005	0.507449927524	0.50384	.	.	.	.	0.885410308838	0.94676	D	0.008517	0.07817	T	-0.220008	0.17991	T	-0.241423	0.50659	T	0.163467866348915	0.18124	T	0.385361	0.09439	T	0.04035094	0.05742	0.089884125	0.21045	0.04035094	0.05741	0.089884125	0.21045	-7.813	0.59789	D	.	.	0.292	0.52335	B	.	.	2.430807	0.31268	18.69	0.97475359580673127	0.34157	0.61721	0.31568	D	AEFDBCI	0.067349	0.13236	N	-0.223592051680261	0.32166	1.811247	-0.175345912010634	0.32446	1.846004	0.202974358251701	0.18147	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.26	2.14	0.26518	1.773000	0.38192	6.953000	0.57030	0.506000	0.23061	0.987000	0.36337	1.000000	0.68203	0.294000	0.24357	0.0:0.0:0.7114:0.2886	8.495	0.32282	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	442.35	16	chr19	1754551	.	G	A	442.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.087;DP=295;ExcessHet=0;FS=0;InbreedingCoeff=-0.0283;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=2.07;SOR=0.668	GT:AD:DP:GQ:PL	0/1:9,16:25:99:456,0,247	18	0	1	0
chr19	1783238	1783240	CTC	-	exonic	ATP8B3	.	nonframeshift deletion	ATP8B3:NM_001178002:exon29:c.3580_3582del:p.E1194del,ATP8B3:NM_138813:exon29:c.3691_3693del:p.E1231del	.	428	1093	1	0	0	1	0.000457247	.	.	.	728032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00139776	0.0036	0.0007	0.0025	0	0.0016	0.0050	0.0025	0.0027	0.0001229	19	154602	rs530525816	0.0036	0.0036	0.0038	0.0034	0.0042	0.0035	0.0035	0.0041	0.0040	0.0005	0.0008	0.0018	0	0.0024	0.0009	0.0042	0.0028	0.0027	0.0031	0.0031	0.0035	0.0027	0.0054	0.0029	0.0028	0.0050	0.0048	0.0009	0.0055	0.0007	0.0026	0.0002	0.0013	0	0.0054	0.0019	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	844.29	34	chr19	1783237	.	TCTC	T	844.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.847;DP=716;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.928;SOR=0.96	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr19	1795939	1795939	G	A	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon18:c.C1850T:p.T617M,ATP8B3:NM_138813:exon18:c.C1991T:p.T664M	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0676295157387	.	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0001	8.41e-05	13	154602	rs757373346	7.05e-05	7.046e-05	6.265e-05	7.843e-05	0.0016	5.917e-05	5.525e-05	0.0008	0.0006	0	0.0003	3.826e-05	0	0	0.0016	5.936e-05	8.283e-05	0.0001	3.287e-05	3.941e-05	2.57e-05	4.039e-05	0.0004	1.261e-05	7.98e-06	7.296e-05	3.031e-05	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.075	0.34444	T	0.078	0.42261	T	1.0	0.90584	D	0.95	0.68788	D	0.053295	0.22821	N	0.473099	0.999997	0.08975	N	2.67	0.78151	M	-0.47	0.70133	T	-5.13	0.83224	D	0.225	0.25253	-0.5961	0.64975	T	0.405	0.75522	T	10	0.2116847	0.37604	T	0.06763	0.70222	D	0.332	0.65424	.	.	0.707702219508	0.70515	0.4329858221967207	0.43215	0.190693184596	0.21381	0.285608708858	0.08286	T	0.634087	0.88696	D	-0.224692	0.17356	T	-0.275817	0.47231	T	0.293730765581131	0.24745	T	0.905509	0.79675	D	0.07009288	0.15409	0.22497454	0.47427	0.07009288	0.15409	0.22497454	0.47426	-8.46	0.64164	D	.	.	0.100	0.17016	B	.;.	.;.	2.559353	0.33143	19.25	0.99440580940453349	0.64720	0.04000	0.09424	N	ALL	0.094226	0.19055	N	-0.251297565874947	0.31051	1.737364	-0.527552221901231	0.21407	1.157854	0.999999999880387	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.658952	0.52864	0	0.825845	0.99933	0	.	.	4.58	-1.81	0.07456	0.308000	0.19071	2.184000	0.31153	0.672000	0.70159	0.042000	0.21073	0.990000	0.31317	0.750000	0.35786	0.3863:0.0:0.4813:0.1323	4.899	0.13121	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2197.33	95	chr19	1795939	.	G	A	2197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=1251;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.667;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q,ATP8B3:NM_138813:exon9:c.G778C:p.E260Q	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	65	chr19	1805931	.	C	G	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=790;ExcessHet=0;FS=3.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-1.659;SOR=0.389	GT:AD:DP:GQ:PL	0/1:69,45:114:99:1054,0,1904	18	0	1	0
chr19	1818840	1818840	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon9:c.C2768T:p.A923V	.	407	1080	34	1	0	36	0.0163934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0054	0.00439297	0.0073	0.0021	0.0059	0.0001	0.0052	0.0078	0.0027	0.0135	0.0063324	979	154602	rs74401133	0.0073	0.0073	0.0072	0.0075	0.0125	0.0072	0.0072	0.0114	0.0112	0.0014	0.0070	0.0033	5.042e-05	0.0032	0.0125	0.0077	0.0061	0.0120	0.0055	0.0055	0.0055	0.0055	0.0101	0.0052	0.0051	0.0079	0.0071	0.0019	0.0088	0.0079	0.0037	0	0.0040	0.0102	0.0076	0.0057	0.0101	0.03	0.45393	D	0.143	0.33219	T	0.23	0.30574	B	0.186	0.36104	B	0.000003	0.62929	D	0.060215	0.995133	0.42558	D	2.375	0.68372	M	2.54	0.13916	T	-2.6	0.55983	D	0.195	0.21449	-1.1082	0.03229	T	0.028	0.12190	T	10	0.0068048537	0.00155	T	.	.	.	0.100	0.28662	.	.	0.143184338766	0.13958	0.40894247736999023	0.40810	0.0962729057545	0.10862	0.343206256628	0.16918	T	0.039676	0.25271	T	-0.658948	0.00064	T	-0.708922	0.05351	T	0.0405330613057393	0.03787	T	0.742326	0.36553	T	0.17079315	0.37675	0.16569564	0.38318	0.17079315	0.37675	0.16569564	0.38318	-5.017	0.37024	T	.	.	0.084	0.10304	B	.;.	.;.	1.347823	0.17552	13.23	0.99805668766044309	0.88995	0.81410	0.40819	D	AEFDGBI	0.355174	0.44700	N	-0.331751375536376	0.27947	1.537537	-0.307785696342238	0.27846	1.548111	0.856495217170664	0.25143	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	2.34	0.28071	2.515000	0.45172	3.254000	0.37046	-0.109000	0.15193	0.943000	0.32764	0.997000	0.33255	0.065000	0.16320	0.1766:0.0:0.8234:0.0	9.193	0.36373	952	0.10565	Elongin A binding-protein 1;Elongin A binding-protein 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.020408	0.005450	0.011765	0.000000	0.008772	0.030488	0.018939	0.02632	970.33	34	chr19	1818840	.	G	A	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.311;DP=735;ExcessHet=0;FS=3.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.749;SOR=0.567	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	18	0	1	0
chr19	1819102	1819102	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon8:c.G2680A:p.E894K	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0631728403163	7.7e-05	0.000399361	0.0005	0	0.0004	0.0001	0	0.0003	0.0012	0.0028	0.0004398	68	154602	rs147787015	0.0003	0.0004	0.0002	0.0005	0.0033	0.0003	0.0003	0.0023	0.0022	3.04e-05	0.0003	8e-05	2.537e-05	0	0.0033	0.0002	0.0004	0.0026	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	0.0001	0	0	0	0	0.0001	0	0.0037	0.027	0.46513	D	0.013	0.63109	D	0.99	0.63424	D	0.663	0.52893	P	0.000005	0.62929	U	0.060625	1	0.81001	D	2.755	0.80505	M	2.58	0.13434	T	-2.14	0.48523	N	0.753	0.75192	-1.1244	0.02071	T	0.058	0.24242	T	10	0.012872994	0.00275	T	0.063173	0.68885	D	0.173	0.43840	.	.	0.147330786459	0.14319	0.696508076036932	0.69591	0.363337451299	0.37963	0.745195269585	0.73737	T	0.050	0.28584	T	-0.296286	0.09015	T	-0.203609	0.54304	T	0.128046041092182	0.15199	T	0.906609	0.67839	D	0.27736533	0.50794	0.27472112	0.53402	0.27736533	0.50794	0.27472112	0.53401	-9.831	0.72894	D	.	.	0.683	0.72246	P	.;.	.;.	4.703453	0.75492	26.3	0.99926765818631291	0.99103	0.99295	0.94095	D	AEFDBI	0.769893	0.70501	D	0.418540933804272	0.62442	4.460151	0.421283977371519	0.62891	4.512688	0.9999929792564	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	6.487000	0.73540	5.860000	0.50423	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	13.716	0.62178	952	0.10565	Elongin A binding-protein 1;Elongin A binding-protein 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002725	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	608.33	35	chr19	1819102	.	C	T	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=742;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.764;SOR=0.786	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	1825846	1825846	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon3:c.G2009A:p.G670D	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0235652446447	0.0003	0.000798722	0.0007	0.0002	0	0	0	0.0002	0	0.0041	0.0006662	103	154602	rs148840948	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	8.981e-05	8.945e-05	0	0	0	0.0028	0.0003	0.0005	0.0037	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0024	0.0020	7.242e-05	0	0.0001	0	0	0	0	0.0003	0	0.0038	0.004	0.65419	D	0.044	0.49663	D	0.931	0.51899	P	0.36	0.43183	B	0.001436	0.39044	N	0.212741	0.999994	0.58761	D	2.585	0.75554	M	1.93	0.22881	T	-2.63	0.56466	D	0.478	0.51315	-1.0349	0.18888	T	0.071	0.28806	T	10	0.0064382553	0.00146	T	0.023565	0.46536	T	0.105	0.29889	.	.	0.196089822672	0.19227	0.2863395221555701	0.28546	0.40514499607	0.41401	0.55399286747	0.46420	T	0.017612	0.14339	T	-0.367348	0.03731	T	-0.301602	0.44555	T	0.147077196427855	0.16869	T	0.738226	0.35599	T	0.33129314	0.55577	0.40487358	0.64903	0.33129314	0.55577	0.40487358	0.64903	-6.099	0.47100	T	.	.	0.225	0.45678	B	.	.	3.675873	0.52298	23.2	0.99678120929672998	0.79043	0.96080	0.67442	D	AEFDBCI	0.730305	0.67774	D	0.374473197177578	0.60041	4.189006	0.364681195664028	0.59396	4.117171	0.999999999941875	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	4.23	4.23	0.49319	5.880000	0.69443	5.707000	0.49406	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0:1.0:0.0:0.0	13.934	0.63520	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002725	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1159.33	51	chr19	1825846	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.295;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr19	1827572	1827572	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.G1217A:p.R406Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	3316028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00751882301514	.	0.000199681	0.0002	0	8.895e-05	0	0	3.308e-05	0	0.0011	0.0001423	22	154602	rs544844051	6.587e-05	6.772e-05	5.662e-05	7.52e-05	0.0008	5.502e-05	5.11e-05	0.0006	0.0006	3.125e-05	0.0002	7.829e-05	5.057e-05	0	0	9.924e-06	0.0002	0.0008	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.307	0.14159	T	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.906739	0.07389	N	1.046900	1	0.08975	N	0.55	0.14455	N	2.6	0.13204	T	0.16	0.05217	N	0.159	0.16586	-0.9816	0.34632	T	0.022	0.09513	T	10	0.011479139	0.00251	T	0.007519	0.19952	T	0.026	0.05648	0.259	0.20159	0.223474106383	0.21959	0.15506640626925794	0.15427	0.108408954616	0.12225	0.228628665209	0.01868	T	0.010462	0.09443	T	-0.631213	0.00094	T	-0.737246	0.04007	T	0.0342478808645442	0.02681	T	0.568443	0.20183	T	0.022430418	0.00906	0.023407657	0.00354	0.022430418	0.00906	0.023407657	0.00354	-4.863	0.35317	T	.	.	0.073	0.04599	B	.	.	0.200200	0.05850	2.292	0.94406976298672296	0.24801	0.01959	0.05945	N	AEFDBCI	0.034651	0.04329	N	-1.57871424921474	0.01374	0.05989406	-1.67833432247034	0.01236	0.05570044	0.999995973198729	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.699875	0.68795	0	.	.	4.12	-6.82	0.01537	0.075000	0.14547	-0.024000	0.12886	-1.665000	0.00808	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2178:0.0:0.7822	13.15	0.58904	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	48	chr19	1827572	.	C	T	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=748;ExcessHet=0;FS=0.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=1.8;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,919:.	18	0	1	0
chr19	1828149	1828149	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.C640T:p.R214C	.	424	1091	6	1	0	8	0.00365297	.	.	.	2815115	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0246311298593	0.0065	0.00179712	0.0064	0.0005	0.0011	0.0001	0.0068	0.0098	0.0012	0.0038	0.0057761	893	154602	rs77108843	0.0068	0.0068	0.0070	0.0067	0.0078	0.0067	0.0067	0.0077	0.0076	0.0007	0.0010	0.0059	0.0001	0.0087	0.0009	0.0078	0.0049	0.0031	0.0045	0.0045	0.0048	0.0041	0.0076	0.0042	0.0041	0.0071	0.0069	0.0010	0	0.0014	0.0037	0.0002	0.0060	0	0.0076	0.0024	0.0035	0.002	0.72154	D	0.061	0.45530	T	0.013	0.16609	B	0.002	0.06944	B	0.057715	0.22459	N	0.275195	0.999998	0.08975	N	1.975	0.53506	M	2.61	0.13095	T	-2.0	0.46146	N	0.354	0.39558	-1.0791	0.07524	T	0.048	0.20355	T	10	0.0056836903	0.00126	T	0.024631	0.47617	T	0.055	0.15663	.	.	0.232442253697	0.22838	0.1847945718327867	0.18397	0.571528777169	0.53278	0.408511221409	0.26250	T	0.019501	0.15525	T	-0.459747	0.00987	T	-0.426915	0.30286	T	0.02719478342435	0.01572	T	0.875712	0.58780	D	0.15696128	0.35393	0.07081009	0.15091	0.15696128	0.35393	0.07081009	0.15090	-6.044	0.46646	T	.	.	0.100	0.17317	B	.	.	3.880322	0.56390	23.7	0.99862063948522239	0.94002	0.59658	0.30976	D	AEFDBCI	0.256553	0.37545	N	-0.154604325981079	0.35039	2.007625	-0.243147942033992	0.30007	1.685927	0.312812565929294	0.19304	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.05	1.83	0.24279	3.337000	0.51838	6.506000	0.55795	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.445000	0.27784	0.1007:0.1497:0.4425:0.3071	2.445	0.04230	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.000000	0.02632	1669.33	35	chr19	1828149	.	G	A	1669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=759;ExcessHet=0;FS=5.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.979;SOR=0.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1475	18	0	1	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.05263	1842.83	34	chr19	1923156	.	C	T	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.1;DP=766;ExcessHet=0.119;FS=2.751;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.027;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	17	0	2	0
chr19	2039747	2039747	C	T	exonic	MKNK2	.	nonsynonymous SNV	MKNK2:NM_199054:exon14:c.G1264A:p.G422S	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0219432621934	0.0012	0.000798722	0.0013	0.0002	0.0025	0	0.0002	0.0019	0.0012	0	0.0013389	207	154602	rs140693851	0.0013	0.0013	0.0013	0.0013	0.0036	0.0012	0.0012	0.0024	0.0021	0.0002	0.0019	0.0005	2.52e-05	0.0003	0.0036	0.0015	0.0013	0.0001	0.0012	0.0012	0.0013	0.0010	0.0035	0.0010	0.0010	0.0027	0.0025	0.0004	0	0.0035	0.0006	0	0.0004	0.0136	0.0014	0.0024	0	0.78	0.03289	T	0.323	0.18959	T	0.0	0.02946	B	0.001	0.04355	B	0.710961	0.10014	N	0.881421	1	0.81001	D	-0.065	0.04868	N	-0.15	0.65192	T	-0.06	0.07882	N	0.095	0.07535	-0.9988	0.30255	T	0.155	0.48670	T	10	0.0043705106	0.00089	T	0.021943	0.44774	T	0.085	0.24743	.	.	0.566443977814	0.56308	0.18195674721886385	0.18114	0.0378742616827	0.04022	0.329536378384	0.14863	T	0.054374	0.29707	T	-0.523045	0.00422	T	-0.529952	0.19292	T	0.0153127183508552	0.00339	T	0.778122	0.41194	T	0.044733476	0.07203	0.056508917	0.10109	0.044733476	0.07202	0.056508917	0.10109	-4.255	0.27541	T	.	.	0.079	0.07318	B	.;.	.;.	2.732833	0.35776	19.99	0.92279917450536908	0.21665	0.85823	0.45000	D	AEFDGBHCI	0.383545	0.46501	N	-0.436260273482674	0.24208	1.305536	-0.307186630873374	0.27865	1.549355	0.999999917431857	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	2.97	2.97	0.33479	0.789000	0.26547	3.189000	0.36694	0.524000	0.24156	0.834000	0.30193	1.000000	0.68203	0.991000	0.66497	0.0:0.8766:0.0:0.1234	7.794	0.28302	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003115	0.000000	0.006812	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	779.33	36	chr19	2039747	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=699;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=2.67;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	18	0	1	0
chr19	2043512	2043512	T	C	exonic	MKNK2	.	nonsynonymous SNV	MKNK2:NM_017572:exon6:c.A410G:p.Q137R,MKNK2:NM_199054:exon6:c.A410G:p.Q137R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0529374613418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.27904	T	0.147	0.35455	T	0.994	0.66517	D	0.962	0.70672	D	0.000005	0.62929	D	0.064494	0.999997	0.58761	D	0.035	0.08059	N	-0.21	0.67187	T	-3.22	0.64939	D	0.756	0.75466	-0.4796	0.69381	T	0.317	0.68655	T	10	0.642084	0.69115	D	0.052937	0.65269	D	0.329	0.65126	0.557	0.67547	0.792332955411	0.79040	0.5924733915383549	0.59177	1.1526068558	0.79254	0.734321653843	0.72138	T	0.254284	0.62492	T	0.00488604	0.52325	T	-0.230758	0.51698	T	0.93515085624633	0.60316	D	0.893511	0.63097	D	0.64226	0.74952	0.44006446	0.67338	0.64226	0.74953	0.44006446	0.67338	-8.894	0.67012	D	.	.	0.351	0.61072	A	.;.;.	.;.;.	5.014171	0.83284	28.0	0.98726655076882464	0.45289	0.97814	0.77329	D	AEFDGBHCI	0.937616	0.93565	D	0.248819808649507	0.53580	3.526302	0.330352887779888	0.57330	3.898403	0.999999999999702	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	7.906000	0.86803	7.848000	0.70832	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.708	0.50874	970	0.06235	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	870.33	36	chr19	2043512	.	T	C	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.45;DP=711;ExcessHet=0;FS=5.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-1.108;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	18	0	1	0
chr19	2078377	2078377	C	A	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G184T:p.A62S	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0675547442364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191401179	1.231e-05	1.231e-05	1.089e-05	1.375e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.024	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000019	0.62929	D	0.115001	1	0.81001	D	3.17	0.88688	M	.	.	.	-2.92	0.61129	D	0.766	0.76666	0.357	0.88443	D	0.575	0.84644	D	9	0.94981706	0.96184	D	0.067555	0.70199	D	0.440	0.74377	0.908	0.98109	0.502691689211	0.49905	0.6365048007340953	0.63584	0.557863761712	0.52388	0.516822218895	0.41179	T	0.409745	0.76469	T	0.145626	0.68858	D	0.06826	0.74793	D	0.897014737129211	0.54885	D	0.971803	0.96633	D	0.40498737	0.61076	0.34952465	0.60576	0.40498737	0.61077	0.34952465	0.60575	-8.046	0.61383	D	.	.	0.584	0.68202	P	.;.;.;.;.	.;.;.;.;.	4.196953	0.63305	24.6	0.99607802714077698	0.74634	0.97246	0.73556	D	AEFBHCI	0.881093	0.80820	D	0.780229795783632	0.84855	8.405689	0.644106634475317	0.78172	6.823212	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	7.707000	0.83595	5.673000	0.49264	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.410	0.74637	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2478.33	201	chr19	2078377	.	C	A	2478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=1323;ExcessHet=0;FS=5.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.029;SOR=1.096	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	18	0	1	0
chr19	2078473	2078473	C	T	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G88A:p.E30K	.	426	1094	2	0	0	2	0.000913242	.	.	.	3554262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.462	0.00771005563525	.	0.000199681	5.811e-05	0	0	0.0001	0	1.509e-05	0	0.0003	5.17e-05	8	154602	rs45509008	2.536e-05	2.531e-05	9.54e-06	4.136e-05	0.0003	1.871e-05	1.634e-05	0.0002	0.0002	0	2.24e-05	0	2.527e-05	0	0	5.406e-06	4.979e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.131	0.37730	T	0.219	0.30243	B	0.024	0.20255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	.	.	.	-2.03	0.46673	N	0.881	0.88137	-0.7466	0.58113	T	0.207	0.56526	T	9	0.3395902	0.51043	T	0.00771	0.20457	T	0.462	0.75889	.	.	0.343560092441	0.33966	0.6615578791207789	0.66092	0.34292255472	0.36221	0.796504974365	0.81431	T	0.182617	0.53469	T	0.14917	0.69190	D	0.255931	0.85899	D	0.140993602548576	0.16361	T	0.988701	0.96153	D	0.28251502	0.51288	0.24613102	0.50116	0.28251502	0.51288	0.24613102	0.50115	-12.181	0.85722	D	.	.	0.814	0.78275	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.705413	0.75534	26.3	0.99793454807235804	0.87928	0.96174	0.67873	D	AEFBHCI	0.891211	0.82698	D	-0.00275961187068221	0.41732	2.501379	0.0510665823784125	0.42122	2.542421	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	7.707000	0.83595	7.348000	0.58281	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.430	0.74813	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1582.33	115	chr19	2078473	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=1430;ExcessHet=0;FS=1.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.893;SOR=0.604	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr19	2110896	2110896	T	C	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_003938:exon25:c.A2800G:p.T934A,AP3D1:NM_001261826:exon27:c.A2986G:p.T996A,AP3D1:NM_001374799:exon27:c.A2950G:p.T984A	.	424	1097	1	0	0	1	0.000455581	0.0009	0.08	.	1648593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	.	0.000998403	0.0007	0.0002	0	0	0	0	0.0012	0.0047	0.0005369	83	154602	rs200937321	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0002	0.0042	0.0040	2.988e-05	0	0	0	0	0	2.698e-06	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	9.236e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.345	0.23007	T	0.806	0.04461	T	0.245	0.40609	B	0.098	0.38116	B	0.003822	0.34438	N	0.284783	0.991959	0.41517	D	1.78	0.46185	L	0.78	0.49358	T	-1.8	0.42384	N	0.47	0.50598	-1.0400	0.17313	T	0.097	0.36315	T	10	0.028422326	0.00974	T	0.010047	0.26124	T	0.197	0.47942	0.877	0.96683	0.435911362372	0.43211	0.2604311110473359	0.25956	0.0821195563771	0.09255	0.38582354784	0.23078	T	0.187284	0.54084	T	-0.4502	0.01126	T	-0.418779	0.31216	T	0.0722771461453236	0.08967	T	0.773323	0.45286	T	0.1256952	0.29458	0.09539336	0.22623	0.12550226	0.29419	0.10552167	0.25367	-4.365	0.29188	T	.	.	0.116	0.41648	B	.;.;.;.;.	.;.;.;.;.	2.833276	0.37356	20.5	0.98483785409623581	0.42014	0.81641	0.41004	D	AEFBHCI	0.365512	0.45366	N	-0.210159384126793	0.32718	1.848116	-0.12527859175865	0.34374	1.976557	0.968189317610572	0.29033	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	4.81	0.61401	5.324000	0.65643	6.118000	0.53749	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:0.0:1.0	13.163	0.58975	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	308.33	33	chr19	2110896	.	T	C	308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=716;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.25;SOR=0.999	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	2111309	2111311	GAG	-	exonic	AP3D1	.	nonframeshift deletion	AP3D1:NM_003938:exon24:c.2773_2775del:p.L925del,AP3D1:NM_001261826:exon26:c.2959_2961del:p.L987del,AP3D1:NM_001374799:exon26:c.2923_2925del:p.L975del	.	.	.	.	.	.	.	.	.	.	.	1438378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0	0	3.039e-05	0	0	1.29e-05	2	154602	rs776535072	8.21e-06	8.209e-06	6.807e-06	9.627e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	986.29	34	chr19	2111308	.	CGAG	C	986.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.268;DP=690;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-1.519;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1257	18	0	1	0
chr19	2230315	2230315	C	T	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon6:c.G682A:p.E228K	.	453	1065	4	0	0	4	0.00187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00187246539809	.	0.00119808	0	0	.	0	.	0	0	.	0.000207	32	154602	rs185888752	0.0013	0.0008	0.0013	0.0013	0.0044	0.0012	0.0011	0.0019	0.0014	0.0006	0.0019	0.0003	0	0.0006	0.0044	0.0016	0.0016	0	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0010	0.0014	0.0012	0.0008	0	0.0019	0.0003	0	0.0002	0.0068	0.0015	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.00703004	0.00160	T	0.001872	0.03272	T	.	.	.	.	0.441118900842	0.43733	0.16008240917527672	0.15929	.	.	.	.	.	.	.	.	-0.777963	0.00011	T	-0.89457	0.00542	T	.	.	.	0.457454	0.13149	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29311	B	.	.	-0.240209	0.02892	0.414	0.89797236872982966	0.19109	0.01661	0.05324	N	AEFDBCI	0.019475	0.00679	N	.	.	.	.	.	.	0.728823470255586	0.23019	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	1.77	-3.13	0.04944	-1.844000	0.01772	-0.272000	0.10340	-1.072000	0.01590	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.3332:0.0:0.6668	6.274	0.20178	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1325.33	36	chr19	2230315	.	C	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=756;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.949;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	18	0	1	0
chr19	2230581	2230581	G	A	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon6:c.C416T:p.P139L	.	515	1004	3	0	0	3	0.0014918	.	.	.	2815135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.0159633295645	.	0.00219649	0	0	.	.	.	0	.	.	0.0007827	121	154602	rs138828181	0.0066	0.0028	0.0065	0.0068	0.0116	0.0064	0.0062	0.0071	0.0066	0.0010	0.0043	0.0351	4.368e-05	0.0011	0.0116	0.0071	0.0068	0.0003	0.0047	0.0047	0.0051	0.0043	0.0064	0.0045	0.0043	0.0059	0.0057	0.0010	0	0.0048	0.0340	0	0.0022	0.0238	0.0064	0.0095	0.0004	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	0.999172	0.21543	N	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.004221201	0.00084	T	0.015963	0.36975	T	.	.	.	.	0.515715180578	0.51213	0.18653237998481495	0.18571	.	.	.	.	.	.	.	.	-0.731763	0.00023	T	-0.819759	0.01457	T	.	.	.	0.343766	0.07508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.	.	0.466801	0.08365	5.117	0.82845414843635645	0.14405	0.08833	0.14703	N	AEFDBHCI	0.051372	0.09070	N	.	.	.	.	.	.	0.990100573369987	0.32040	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.45	1.09	0.19517	0.731000	0.25726	0.251000	0.16428	0.271000	0.18527	0.126000	0.23278	0.011000	0.20116	0.014000	0.10232	0.2523:0.0:0.5386:0.209	3.444	0.07042	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3990.81	36	chr19	2230581	.	G	A	3990.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.42;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	18	1	0	0
chr19	2276327	2276327	C	T	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon4:c.G775A:p.E259K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0131830353763	.	.	0.0001	0.0002	0	0	0	6.055e-05	0	0.0004	6.47e-05	10	154602	rs779918015	1.452e-05	1.436e-05	1.377e-05	1.528e-05	0.0003	9.33e-06	7.92e-06	8.916e-05	7.077e-05	0	0	0	0	0	0.0003	4.501e-06	1.664e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.284	0.15303	T	0.391	0.15456	T	0.879	0.48338	P	0.222	0.37884	B	.	.	.	.	1	0.08975	N	.	.	.	2.14	0.19450	T	-1.26	0.31778	N	0.342	0.38335	-1.0250	0.22083	T	0.033	0.14073	T	9	0.098031014	0.17696	T	0.013183	0.32380	T	0.090	0.26093	0.55	0.66576	0.488548280593	0.48485	0.6018341145044439	0.60114	0.535499396938	0.50915	.	.	.	0.010185	0.09221	T	-0.432165	0.01439	T	-0.552575	0.17078	T	0.0435382165014744	0.04337	T	0.676832	0.28555	T	0.09789576	0.23082	0.065584056	0.13315	0.09789576	0.23082	0.065584056	0.13314	-8.327	0.63277	D	.	.	0.276	0.50970	B	.	.	2.594256	0.33663	19.41	0.99505511046648243	0.68322	0.10969	0.16318	N	AEFDBHCI	0.078849	0.15917	N	-0.511812756630819	0.21698	1.153388	-0.681326102674962	0.17428	0.9266518	0.498202263130048	0.20920	0.679555	0.55442	0	0.573116	0.20632	0	0.600882	0.32295	2	0.508809	0.08732	0	.	.	2.52	0.098	0.13806	-0.139000	0.10338	2.407000	0.32622	0.599000	0.40250	0.000000	0.06391	0.988000	0.31051	0.006000	0.07323	0.2335:0.6158:0.0:0.1506	4.026	0.09172	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2090.33	33	chr19	2276327	.	C	T	2090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=766;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-1.217;SOR=1.047	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr19	2278618	2278618	G	A	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon3:c.C578T:p.A193V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0137256025881	0.0003	0.000599042	0.0002	0.0021	8.892e-05	0	0.0002	1.685e-05	0	0	0.0001682	26	154602	rs149444944	4.094e-05	4.241e-05	5.091e-05	3.048e-05	0.0013	3.22e-05	2.889e-05	0.0010	0.0009	0.0013	7.205e-05	0	0	6.546e-05	0	5.69e-06	7.248e-05	1.468e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0	0	0	0	1.47e-05	0	0	0.713	0.04008	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-1.12	0.28906	N	0.104	0.08786	-0.9490	0.41143	T	0.014	0.05369	T	9	0.007333964	0.00167	T	0.013726	0.33353	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.13191725602333343	0.13116	0.133000903439	0.14980	.	.	.	0.003	0.01894	T	-0.729094	0.00024	T	-0.826236	0.01330	T	0.00271153006670367	0.00028	T	0.275372	0.04709	T	0.02382235	0.01156	0.03586438	0.02919	0.02382235	0.01155	0.03586438	0.02918	-5.049	0.37367	T	.	.	0.068	0.02829	B	.	.	-0.650829	0.01439	0.086	0.6171892576080259	0.06779	0.01511	0.04995	N	AEFDBHCI	0.022798	0.01186	N	-1.52506861662079	0.01686	0.07377852	-1.49489732373347	0.02386	0.1096356	0.795160476014593	0.24086	0.536635	0.22144	0	0.611049	0.52481	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.37	-0.209	0.12532	-0.153000	0.10130	0.082000	0.14403	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4209:0.1883:0.3907:0.0	4.449	0.11031	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	746.33	35	chr19	2278618	.	G	A	746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=696;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.04;SOR=0.883	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1056	18	0	1	0
chr19	2290302	2290302	A	C	exonic	LINGO3	.	nonsynonymous SNV	LINGO3:NM_001101391:exon2:c.T1475G:p.F492C	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.335532705995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.405e-06	2.052e-06	0	2.831e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.69e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.31833	T	0.99	0.63424	D	0.91	0.64641	D	.	.	.	.	0.99999	0.58761	D	1.04	0.26193	L	-0.23	0.66652	T	.	.	.	0.787	0.78356	-0.3430	0.73756	T	0.363	0.72422	T	9	0.66417336	0.70328	D	0.335533	0.91871	D	.	.	0.235	0.16457	0.638853250657	0.63587	0.8203017024331187	0.81987	.	.	0.862846493721	0.91531	D	0.009462	0.08612	T	0.139831	0.68310	D	-0.0369188	0.67908	D	0.974688768386841	0.70612	D	0.933507	0.75104	D	0.20942226	0.43209	0.36549553	0.61897	0.20942226	0.43209	0.36549553	0.61897	-8.34	0.63364	D	.	.	0.971	0.89572	P	.	.	4.779689	0.77456	26.7	0.98807674491519459	0.46558	0.98350	0.81890	D	AEFDGBHCI	0.785197	0.71565	D	0.515819902182524	0.68024	5.161	0.482475069026533	0.66829	5.003331	0.999999999949865	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	6.941000	0.75731	7.850000	0.70922	0.627000	0.51825	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.336	0.54392	982	0.03397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1193.33	37	chr19	2290302	.	A	C	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=831;ExcessHet=0;FS=0.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0.54;SOR=0.929	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,103,1178	18	0	1	0
chr19	2410309	2410309	C	T	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon9:c.C473T:p.A158V,TMPRSS9:NM_182973:exon9:c.C1067T:p.A356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.109402358998	.	.	1.65e-05	0	8.643e-05	0	0	0	0.0011	0	1.29e-05	2	154602	rs780691347	7.525e-06	8.209e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.106	0.29688	T	0.139	0.33666	T	0.65	0.40644	P	0.677	0.53365	P	0.666030	0.06008	N	1.217410	0.999961	0.18878	N	1.27	0.32069	L	-2.52	0.89363	D	-2.39	0.52612	N	0.171	0.24385	-0.2380	0.76678	T	0.635	0.87215	D	10	0.20238471	0.36356	T	0.109402	0.78636	D	0.365	0.68495	0.442	0.49811	0.807798298722	0.80599	0.41509266267440703	0.41425	0.157486115895	0.17784	0.393272578716	0.24130	T	0.175314	0.52485	T	-0.14116	0.29705	T	-0.237889	0.51004	T	0.451927125453949	0.30868	T	0.189581	0.03180	T	0.0685733	0.14949	0.15817519	0.36951	0.0685733	0.14949	0.15817519	0.36950	-6.881	0.53158	T	.	.	0.091	0.20547	B	.;.;.;.	.;.;.;.	1.662777	0.21203	15.10	0.99570272767261525	0.72318	0.12085	0.17050	N	AEFBCI	0.099480	0.20025	N	-0.526517194693537	0.21225	1.124895	-0.620276712888153	0.18972	1.015905	7.41986640805909E-4	0.07741	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.65	-1.61	0.07951	-0.185000	0.09679	-0.973000	0.06739	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.2915:0.3969:0.3115:0.0	7.599	0.27233	958	0.09170	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1210.33	58	chr19	2410309	.	C	T	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.228;DP=828;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.336;SOR=0.97	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1413	18	0	1	0
chr19	2422193	2422193	G	A	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon14:c.G1798A:p.G600R,TMPRSS9:NM_182973:exon14:c.G2392A:p.G798R	.	425	1091	6	0	0	6	0.00274223	.	.	.	716331	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0491587557267	0.0049	0.00339457	0.0055	0.0020	0.0063	0	0.0014	0.0074	0.0025	0.0031	0.0052587	813	154602	rs34615361	0.0066	0.0064	0.0066	0.0066	0.0075	0.0065	0.0064	0.0073	0.0073	0.0012	0.0075	0.0052	0	0.0017	0.0052	0.0075	0.0067	0.0028	0.0046	0.0046	0.0048	0.0043	0.0097	0.0043	0.0042	0.0084	0.0079	0.0015	0	0.0097	0.0043	0	0.0008	0	0.0065	0.0066	0.0019	0.228	0.18434	T	0.666	0.19421	T	0.017	0.17573	B	0.011	0.15521	B	0.918903	0.07464	N	1.041790	1	0.08975	N	1.745	0.45235	L	-2.31	0.87750	D	-3.16	0.64246	D	0.088	0.08227	-0.7637	0.57204	T	0.338	0.70437	T	10	0.006436467	0.00146	T	0.049159	0.63689	D	0.102	0.29158	0.198	0.11110	0.568892413138	0.56554	0.2974450765012638	0.29657	0.0913205535873	0.10314	0.247013732791	0.03460	T	0.006645	0.06067	T	-0.475248	0.00789	T	-0.448473	0.27866	T	0.00500634221171029	0.00054	T	0.688231	0.29741	T	0.073057346	0.16298	0.14268434	0.33937	0.073057346	0.16298	0.14268434	0.33936	-3.684	0.19082	T	.	.	0.092	0.17232	B	.;.;.;.	.;.;.;.	0.552950	0.09217	5.998	0.65629639779480997	0.07827	0.03085	0.08005	N	AEFDBHCI	0.043218	0.06804	N	-1.0298061933884	0.07989	0.3730661	-1.08743081420131	0.07946	0.3886571	0.0224822703739294	0.13434	0.460665	0.09802	0	0.577304	0.33150	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	3.6	0.432	0.15742	0.096000	0.14986	2.332000	0.32201	0.618000	0.50648	0.000000	0.06391	0.984000	0.30665	0.002000	0.04165	0.6352:0.0:0.3648:0.0	6.022	0.18863	964	0.07719	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.025253	0.010870	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	4110.33	279	chr19	2422193	.	G	A	4110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=937;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.253;SOR=0.82	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1299	18	0	1	0
chr19	2433930	2433930	C	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon8:c.G1378A:p.G460S	.	399	1121	2	0	0	2	0.000891266	.	.	.	647875	Lipodystrophy,_partial,_acquired,_susceptibility_to|Progressive_myoclonic_epilepsy_type_9	MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.044	0.00783423175242	.	0.000399361	0.0001	0.0001	0.0002	0	0.0002	6.198e-05	0	0.0005	0.0001164	18	154602	rs566078588	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0003	5.977e-05	8.949e-05	0	0	1.922e-05	0.0007	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	9.396e-05	0.0004	6.505e-05	5.317e-05	7.282e-05	5.087e-05	2.405e-05	0	0	0	0.0004	0.0002	0	0.0001	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.009816	0.30192	N	0.340766	1	0.08975	N	.	.	.	-1.66	0.82715	D	.	.	.	0.063	0.03502	-1.0171	0.24657	T	0.035	0.15291	T	8	0.019604355	0.00440	T	0.007834	0.20773	T	0.044	0.11924	.	.	0.29966067498	0.29572	0.27699471850532054	0.27612	0.247410418355	0.27288	0.358693867922	0.19194	T	0.216176	0.57826	T	-0.360563	0.04098	T	-0.463552	0.26214	T	0.0102055727072012	0.00138	T	0.453855	0.12912	T	0.02800686	0.02073	0.0317795	0.01816	0.02800686	0.02073	0.0317795	0.01816	-2.728	0.07541	T	0.04831724884680837	0.00743	0.065	0.01834	B	.	.	-0.881454	0.00957	0.037	0.54909378799829256	0.05233	0.00566	0.02572	N	AEFDBI	0.044102	0.07055	N	-1.36457700966675	0.02976	0.1322579	-1.38300412860911	0.03432	0.1601164	6.40348792584712E-5	0.04366	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.05	-0.577	0.11139	0.372000	0.20199	-4.614000	0.02068	-1.018000	0.01743	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.0:0.3517:0.0:0.6483	8.102	0.30022	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1643.33	38	chr19	2433930	.	C	T	1643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=824;ExcessHet=0;FS=2.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0;SOR=0.964	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1328	18	0	1	0
chr19	2810340	2810340	C	T	exonic	THOP1	.	nonsynonymous SNV	THOP1:NM_003249:exon10:c.C1492T:p.R498W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0474252750426	.	.	3.498e-05	0	0	0	0	6.32e-05	0	0	3.23e-05	5	154602	rs777006143	6.235e-05	6.362e-05	6.681e-05	5.785e-05	0.0002	5.169e-05	4.788e-05	5.798e-05	5.367e-05	0	2.238e-05	7.66e-05	0	5.742e-05	0.0002	7.106e-05	8.294e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.062	0.83351	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.19	0.30124	L	2.84	0.10674	T	-5.02	0.82511	D	0.838	0.83371	-0.9675	0.37713	T	0.033	0.14029	T	10	0.65466034	0.69803	D	0.047425	0.62915	D	0.290	0.60924	.	.	0.354396617058	0.35051	0.825937333034814	0.82551	0.902985264539	0.70709	0.883316099644	0.94403	D	0.252119	0.62246	T	-0.0989002	0.36606	T	-0.220363	0.52702	T	0.907411932945251	0.56170	D	0.972903	0.93912	D	0.658711	0.75830	0.46502355	0.68952	0.658711	0.75831	0.46502355	0.68952	-9.203	0.70921	D	.	.	0.569	0.67589	P	.;.;.;.;.	.;.;.;.;.	5.133828	0.85920	28.7	0.99825439098458324	0.90764	0.71634	0.35098	D	AEFBHCI	0.678955	0.64315	D	-0.163507965936957	0.34660	1.981143	-0.25533610301189	0.29587	1.658877	0.65483956355196	0.22205	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.4	-0.62	0.10987	0.779000	0.26407	3.239000	0.36954	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.4866:0.4183:0.0:0.095	6.694	0.22378	994	0.00715	Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B catalytic domain;.;Peptidase M3A/M3B catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	40	chr19	2810340	.	C	T	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=754;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.986;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	18	0	1	0
chr19	2917544	2917544	A	G	exonic	ZNF57	.	nonsynonymous SNV	ZNF57:NM_001319083:exon4:c.A827G:p.Y276C,ZNF57:NM_173480:exon4:c.A923G:p.Y308C	.	408	1093	21	0	0	21	0.00951518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00274810396374	0.0018	0.000599042	0.0025	9.615e-05	0.0029	0.0001	0.0014	0.0031	0.0066	0.0024	0.0022251	344	154602	rs138288250	0.0020	0.0020	0.0020	0.0021	0.0132	0.0019	0.0019	0.0108	0.0099	0.0003	0.0024	0.0014	2.519e-05	0.0010	0.0132	0.0021	0.0022	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0023	0.0022	0.0003	0.0077	0.0028	0.0009	0.0002	0.0018	0.0068	0.0027	0.0033	0.0031	0.001	0.78490	D	0.014	0.63918	D	0.981	0.59675	D	0.514	0.48013	P	.	.	.	.	0.999999	0.08975	N	2.82	0.82106	M	1.8	0.25344	T	-7.92	0.96243	D	0.268	0.30347	-1.0134	0.25848	T	0.078	0.31163	T	9	0.008194387	0.00186	T	0.002748	0.05694	T	0.033	0.08068	.	.	0.384086055536	0.38021	0.03817991762883278	0.03763	0.0331800006397	0.03465	0.297541618347	0.10035	T	0.080808	0.48169	T	-0.499229	0.00577	T	-0.49199	0.23182	T	0.0807619185844534	0.10085	T	0.119088	0.00917	T	0.37498558	0.58951	0.26632977	0.52477	0.37498558	0.58952	0.26632977	0.52476	-7.529	0.57815	D	.	.	0.362	0.58493	A	.;.;.	.;.;.	1.253334	0.16501	12.58	0.59857462628354041	0.06324	0.01932	0.05890	N	AEFGBHCI	.	.	.	-0.584519847722468	0.19414	1.015892	-0.86875643491662	0.12837	0.662677	0.00739564205875676	0.11456	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.508809	0.08732	0	.	.	2.25	-0.192	0.12597	1.032000	0.29786	-2.517000	0.03658	-0.149000	0.12139	0.005000	0.17040	0.000000	0.08366	0.008000	0.08271	0.4306:0.0:0.3373:0.2321	2.323	0.03957	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.020202	0.013587	0.029240	0.000000	0.043103	0.012195	0.007576	0.02632	1523.33	104	chr19	2917544	.	A	G	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1882;ExcessHet=0;FS=4.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-2.167;SOR=0.37	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr19	2939200	2939291	GCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACACCACCCTTACCCAAGGAGGCA	-	exonic	ZNF77	.	frameshift deletion	ZNF77:NM_021217:exon2:c.120_130del:p.A41Lfs*6	.	672	847	1	2	0	5	0.00294291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.109e-05	4.76e-05	0.0001	4.504e-05	0.0011	4.941e-05	4.197e-05	0.0008	0.0006	0.0001	0	0	0.0011	0	0	9.062e-06	0	2.212e-05	0.0010	0.0007	0.0010	0.0010	0.0036	0.0008	0.0008	0.0020	0.0015	0.0011	0.0018	0.0018	0	0.0036	0.0004	0	0.0008	0.0017	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4138.29	35	chr19	2939199	.	CGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACACCACCCTTACCCAAGGAGGCA	C	4138.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=1014;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.97;MQRankSum=1.18;QD=16.04;ReadPosRankSum=1.88;SOR=0.682	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1319	18	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3093.58	35	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*	3093.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.716;DP=2580;ExcessHet=0.7564;FS=1.172;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=57.96;MQRankSum=1.95;QD=3.56;ReadPosRankSum=0.409;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1319:.	16	0	3	0
chr19	2939291	2939291	A	0	exonic	ZNF77	.	.	.	.	468	994	34	2	24	62	0.0187562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3180.43	35	chr19	2939291	.	A	*	3180.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=1330;ExcessHet=0.119;FS=1.778;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=0.368;QD=6.88;ReadPosRankSum=0.94;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800:.	18	0	1	0
chr19	2994954	2994954	G	A	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon16:c.G1300A:p.V434I,TLE6:NM_001143986:exon17:c.G1669A:p.V557I	Preimplantation embryonic lethality, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2217019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.00372741152482	7.7e-05	.	6.469e-05	0.0001	0.0002	0.0001	0	1.968e-05	0	7.621e-05	4.53e-05	7	154602	rs201878408	5.696e-05	5.814e-05	6.688e-05	4.692e-05	6.764e-05	4.691e-05	4.315e-05	5.343e-05	4.915e-05	5.987e-05	6.764e-05	0	0	0	0	6.575e-05	4.986e-05	2.343e-05	8.55e-05	8.54e-05	0.0001	6.735e-05	0.0002	4.962e-05	3.966e-05	5.842e-05	4.239e-05	7.245e-05	0	6.564e-05	0	0	0	0	0.0001	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.375	0.00634	N	2.92	0.09915	T	0.74	0.02038	N	0.116	0.10483	-0.9884	0.33002	T	0.007	0.02244	T	9	0.029922128	0.01118	T	0.003727	0.08651	T	0.083	0.24192	.	.	0.388970301349	0.38507	0.027720445136019674	0.02722	0.0540983458757	0.05977	0.265769898891	0.05597	T	0.035569	0.23770	T	-0.538638	0.00341	T	-0.763184	0.03000	T	0.00795707172084881	0.00094	T	0.436356	0.13467	T	0.015898399	0.00164	0.03487859	0.02636	0.015898399	0.00164	0.03487859	0.02635	-1.257	0.01588	T	.	.	0.066	0.02285	B	.;.	.;.	-1.867197	0.00136	0.002	0.75270510892504794	0.11010	0.03652	0.08906	N	AEFDBHI	0.039722	0.05810	N	-2.18822732205761	0.00081	0.003487605	-2.14993886743189	0.00145	0.006368499	0.0387344192024313	0.14361	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.37	-6.75	0.01575	0.254000	0.18084	-3.017000	0.03137	-2.389000	0.00298	0.977000	0.34929	0.000000	0.08366	0.000000	0.00833	0.1667:0.1198:0.7135:0.0	14.201	0.65246	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1397.33	43	chr19	2994954	.	G	A	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=870;ExcessHet=0;FS=8.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.651;SOR=0.251	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1411,0,1208	18	0	1	0
chr19	3000657	3000657	C	T	exonic	TLE2	.	nonsynonymous SNV	TLE2:NM_001144762:exon17:c.G1748A:p.S583N,TLE2:NM_001300846:exon19:c.G2117A:p.S706N,TLE2:NM_003260:exon19:c.G2114A:p.S705N	.	427	1072	20	3	0	26	0.0119816	.	.	.	1671777	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.199	.	0.0068	0.00938498	0.0117	0.0261	0.0232	0	0.0283	0.0130	0.0282	0.0018	0.004987	771	154602	rs143713547	0.0045	0.0046	0.0045	0.0045	0.0346	0.0044	0.0044	0.0306	0.0291	0.0140	0.0072	0.0071	0	0.0093	0.0346	0.0039	0.0077	0.0022	0.0084	0.0084	0.0084	0.0083	0.0149	0.0080	0.0078	0.0139	0.0135	0.0149	0	0.0098	0.0075	0	0.0107	0.0411	0.0045	0.0147	0.0027	0.025	0.47320	D	0.046	0.49663	D	0.971	0.57185	D	0.934	0.66904	D	0.000001	0.84330	D	0.092112	0.992512	0.81001	D	1.665	0.42610	L	2.79	0.11189	T	-2.57	0.55501	D	0.748	0.77507	-1.1741	0.00464	T	0.030	0.12760	T	10	0.009703219	0.00218	T	.	.	.	0.199	0.48268	.	.	0.734121464286	0.73174	0.6046838372921431	0.60399	0.915692668463	0.71232	0.846584916115	0.89098	D	0.431093	0.77934	T	-0.545414	0.00311	T	-0.54455	0.17852	T	0.0227404209511492	0.00993	T	0.945705	0.79334	D	0.5837768	0.71814	0.39995903	0.64545	0.5837768	0.71815	0.39995903	0.64545	-12.306	0.86310	D	.	.	0.572	0.67702	P	.;.;.;.	.;.;.;.	4.149057	0.62223	24.4	0.99497359993279333	0.67801	0.98307	0.81472	D	AEFBI	0.886248	0.81748	D	0.55790229130904	0.70566	5.520137	0.518921067155833	0.69263	5.335682	0.99920780657887	0.38742	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.96	3.96	0.45097	7.837000	0.85014	3.828000	0.39982	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:1.0:0.0:0.0	13.972	0.63758	982	0.03397	WD40-repeat-containing domain;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.042886	0.076531	0.057065	0.029240	0.000000	0.025862	0.012270	0.018939	0.02632	1096.33	34	chr19	3000657	.	C	T	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.983;DP=720;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=1.99;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1098:.	18	0	1	0
chr19	3179886	3179886	G	T	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1094T:p.R365L	.	426	1071	23	2	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0051	0.00758786	0.0073	0.0009	0.0068	0.0169	0.0015	0.0072	0.0092	0.0097	0.0070892	1096	154602	rs3746072	0.0078	0.0078	0.0077	0.0080	0.0279	0.0077	0.0077	0.0265	0.0260	0.0008	0.0083	0.0076	0.0279	0.0027	0.0100	0.0074	0.0079	0.0099	0.0067	0.0067	0.0067	0.0066	0.0188	0.0063	0.0062	0.0158	0.0147	0.0014	0	0.0104	0.0089	0.0188	0.0023	0	0.0085	0.0109	0.0096	0.111	0.29029	T	0.357	0.17115	T	0.956	0.54666	P	0.421	0.45113	B	0.429652	0.12764	N	0.704329	0.999997	0.08975	N	2.24	0.63355	M	-1.51	0.81399	D	-0.9	0.24244	N	0.169	0.17966	-0.8482	0.52093	T	0.191	0.54286	T	10	0.0041588843	0.00082	T	.	.	.	0.317	0.63904	.	.	0.673373174604	0.67061	0.564520091980595	0.56379	0.520053127806	0.49812	0.707280218601	0.68198	T	0.11485	0.43298	T	-0.294597	0.09179	T	-0.181664	0.56369	T	0.0259824680036602	0.01403	T	0.644036	0.25562	T	0.18535873	0.39896	0.22214901	0.47049	0.18535873	0.39895	0.22214901	0.47048	-2.998	0.10159	T	.	.	0.253	0.48725	B	.	.	2.147419	0.27353	17.43	0.98146009376575305	0.38647	0.13145	0.17689	N	AEFDBHCI	.	.	.	-0.388218661261633	0.25887	1.408693	-0.494609765323304	0.22301	1.210653	0.999999999070413	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.94	3.94	0.44807	0.307000	0.19048	8.054000	0.76369	0.575000	0.29119	0.000000	0.06391	1.000000	0.68203	0.046000	0.14843	0.0:0.1823:0.8177:0.0	11.574	0.50105	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.008772	0.050000	0.008621	0.018293	0.026515	0.02632	1799.33	35	chr19	3179886	.	G	T	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.593;SOR=0.703	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1248	18	0	1	0
chr19	3179933	3179933	G	A	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1141A:p.V381M	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0894072941262	0.0004	0.000199681	0.0005	0.0002	0.0002	0	0	0.0007	0.0013	0.0007	0.0004528	70	154602	rs201273565	0.0004	0.0004	0.0004	0.0004	0.0015	0.0004	0.0004	0.0008	0.0006	0	0.0006	0.0009	0	2.045e-05	0.0015	0.0004	0.0007	0.0009	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	9.621e-05	0	0.0003	0.0006	0	0	0	0.0006	0.0009	0.0006	0.006	0.61437	D	0.352	0.17372	T	0.007	0.14184	B	0.004	0.10090	B	0.341185	0.13960	N	0.582611	0.853967	0.28455	N	2.075	0.57047	M	-1.62	0.82347	D	-0.29	0.11728	N	0.085	0.06190	-0.6825	0.61257	T	0.316	0.68584	T	10	0.02049172	0.00473	T	0.089407	0.75321	D	0.244	0.55061	.	.	0.309278343525	0.30543	0.4292608400006026	0.42843	0.745273624272	0.63487	0.65470802784	0.60655	T	0.041305	0.25814	T	-0.318036	0.07059	T	-0.325864	0.41928	T	0.0183917208350645	0.00557	T	0.591241	0.21771	T	0.06619201	0.14220	0.08312561	0.19025	0.06619201	0.14219	0.08312561	0.19025	-5.395	0.40871	T	.	.	0.261	0.49586	B	.	.	2.802654	0.36869	20.4	0.99619823735558655	0.75353	0.57273	0.30333	D	AEFDGBHCI	.	.	.	-0.457495989619361	0.23487	1.26161	-0.346775377632961	0.26610	1.470882	0.999999998556595	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.85	1.62	0.22817	0.774000	0.26337	3.573000	0.39130	0.575000	0.29119	0.931000	0.32310	1.000000	0.68203	0.955000	0.50612	0.3008:0.0:0.6992:0.0	7.580	0.27128	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	962.33	35	chr19	3179933	.	G	A	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=759;ExcessHet=0;FS=5.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.616;SOR=1.383	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1248	18	0	1	0
chr19	3543382	3543382	C	G	exonic	C19orf71	.	stopgain	C19orf71:NM_001135580:exon2:c.C231G:p.Y77X	.	420	1100	2	0	0	2	0.000908265	.	.	.	2815156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0030	0.0014	0.0033	0	0	0.0055	0	0.0015	0.001216	188	154602	rs201844208	0.0069	0.0066	0.0071	0.0067	0.0082	0.0068	0.0067	0.0081	0.0080	0.0012	0.0013	0.0018	0	0.0045	0.0015	0.0082	0.0055	0.0014	0.0042	0.0043	0.0044	0.0040	0.0077	0.0040	0.0038	0.0071	0.0069	0.0013	0	0.0015	0.0012	0	0.0028	0.0102	0.0077	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.205437	0.16495	N	0.503497	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166615	0.70812	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.217255	0.97307	37	0.99055611708715485	0.51367	0.26455	0.22998	N	AEFDGBCI	0.103062	0.20659	N	0.251927084596465	0.53734	3.541058	-0.010883720983877	0.39223	2.322317	0.999999790123246	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.29	4.29	0.50359	3.119000	0.50115	3.391000	0.38067	0.469000	0.21855	0.638000	0.28068	0.999000	0.35428	0.055000	0.15596	0.0:1.0:0.0:0.0	12.212	0.53694	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	598.33	36	chr19	3543382	.	C	G	598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=685;ExcessHet=0;FS=5.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.67;SOR=0.243	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	18	0	1	0
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007921	0.000000	0.008130	0.000000	0.000000	0.000000	0.010638	0.026316	0.02632	645.33	39	chr19	3543599	.	G	A	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.524;DP=761;ExcessHet=0;FS=3.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-2.676;SOR=1.14	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1060	18	0	1	0
chr19	3586550	3586550	G	A	exonic	GIPC3	.	nonsynonymous SNV	GIPC3:NM_133261:exon2:c.G281A:p.G94D	Deafness, autosomal recessive 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0877042175025	.	.	8.294e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs763523474	4.789e-06	4.788e-06	0	9.627e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.928	0.66279	D	0.000001	0.62929	D	0.056535	1	0.81001	D	2.86	0.83026	M	1.09	0.39223	T	-6.06	0.89833	D	0.961	0.97095	-0.5492	0.66817	T	0.232	0.59769	T	10	0.84533453	0.83697	D	0.087704	0.74988	D	0.533	0.80367	0.488	0.57257	0.732692569738	0.73030	0.7609127667487245	0.76039	0.570962921086	0.53239	0.91954934597	0.98289	D	0.776253	0.94052	D	0.0925699	0.63476	D	0.0978477	0.76765	D	0.968733251094818	0.68345	D	0.979335	0.92822	D	0.7620805	0.81576	0.7554823	0.85549	0.8253348	0.85583	0.72306436	0.83646	-10.213	0.75176	D	0.5710614096716197	0.63824	0.991	0.93890	P	.;.;.	.;.;.	4.901981	0.80576	27.4	0.99842433930026941	0.92229	0.93448	0.58244	D	AEFDBCI	0.930975	0.91910	D	0.629642374605049	0.75056	6.239253	0.52264091410095	0.69518	5.371598	0.999999872149322	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	3.49	3.49	0.39065	7.422000	0.79413	11.504000	0.92975	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:0.0:1.0:0.0	13.763	0.62462	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1732.33	39	chr19	3586550	.	G	A	1732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.77;DP=801;ExcessHet=0;FS=1.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.237;SOR=0.559	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	3626603	3626603	C	G	exonic	CACTIN	.	nonsynonymous SNV	CACTIN:NM_001080543:exon1:c.G160C:p.E54Q,CACTIN:NM_021231:exon1:c.G160C:p.E54Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00818847364444	.	.	5.794e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs759881630	2.268e-06	2.736e-06	1.496e-06	3.056e-06	3.731e-05	6e-07	1.7e-07	.	.	3.731e-05	0	0	0	0	0	0	1.852e-05	1.399e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.462	0.12526	T	0.079	0.24468	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	.	.	.	-0.62	0.18248	N	0.22	0.24634	-1.0646	0.10642	T	0.059	0.24908	T	8	0.065612614	0.08878	T	0.008188	0.21700	T	0.032	0.07718	0.235	0.16457	0.165150595986	0.16160	0.28331686271708073	0.28244	0.61882277947	0.56262	0.712203860283	0.68913	T	0.014245	0.12164	T	-0.259699	0.12934	T	-0.441688	0.28620	T	0.14051289512154	0.16319	T	0.457454	0.13149	T	0.14603762	0.33449	0.08888672	0.20752	0.14603762	0.33449	0.08888672	0.20751	-5.302	0.39963	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	2.776884	0.36468	20.3	0.97161893741784477	0.32634	0.63158	0.32002	D	AEFDGBHCI	0.163828	0.29015	N	-0.360570021452801	0.26885	1.470822	-0.189520842612113	0.31920	1.811058	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.553000	0.23098	2.436000	0.32752	0.524000	0.24156	0.145000	0.23581	1.000000	0.68203	0.075000	0.16954	0.0:1.0:0.0:0.0	12.991	0.58019	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	524.33	35	chr19	3626603	.	C	G	524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=564;ExcessHet=0;FS=6.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.872;SOR=1.609	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,780	18	0	1	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.1053	4201.43	34	chr19	3633475	.	C	T	4201.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.222;DP=936;ExcessHet=0.7564;FS=3.83;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.029;SOR=0.887	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1067	15	0	4	0
chr19	3637462	3637462	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_001300849:exon17:c.G2072A:p.R691Q	Lethal congenital contractural syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221483762562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs138081265	1.952e-05	1.847e-05	2.14e-05	1.758e-05	0.0002	1.337e-05	1.146e-05	1.251e-05	1.062e-05	3.166e-05	0	3.973e-05	2.799e-05	0	0.0002	1.947e-05	0	2.524e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.055750787	0.06142	T	0.022148	0.45008	T	.	.	.	.	0.0675242888579	0.06100	0.23577947208629216	0.23492	.	.	.	.	.	.	.	.	-0.198653	0.20999	T	-0.497947	0.22560	T	.	.	.	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.089	0.12276	B	.	.	0.081044	0.04871	1.460	0.85029035284495791	0.15642	0.01517	0.05008	N	AEFDBI	0.045035	0.07317	N	.	.	.	.	.	.	0.00112838207178433	0.08250	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	2.28	-2.93	0.05261	-0.187000	0.09652	-0.466000	0.09008	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3625:0.4053:0.0:0.2322	3.018	0.05698	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2253.33	41	chr19	3637462	.	C	T	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=943;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.563;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr19	3751517	3751517	C	T	exonic	APBA3	.	nonsynonymous SNV	APBA3:NM_004886:exon9:c.G1432A:p.V478I	.	375	1145	2	0	0	2	0.0008726	.	.	.	2376942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00924361057863	7.7e-05	0.000199681	0.0003	0	0.0004	0	0.0017	0.0005	0	0	0.0001229	19	154602	rs376088061	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0003	0.0002	0	0	0	0	0.0016	0.0010	9.34e-05	0.0002	8.433e-05	0.0001	0.0001	0.0001	0.0001	7.353e-05	7.572e-05	6.277e-05	2.847e-05	1.859e-05	2.405e-05	0	6.533e-05	0	0	0.0010	0	7.353e-05	0	0	0.146	0.25055	T	0.085	0.41074	T	0.008	0.14655	B	0.011	0.15521	B	0.001182	0.39899	N	0.162344	0.999962	0.52935	D	1.59	0.40313	L	0.95	0.43279	T	-0.87	0.23590	N	0.224	0.25130	-1.0624	0.11166	T	0.086	0.33410	T	10	0.019021183	0.00420	T	0.009244	0.24272	T	0.032	0.07718	.	.	0.210429274316	0.20668	0.09733736222389867	0.09664	0.0563879772125	0.06225	0.397884905338	0.24774	T	0.090541	0.38606	T	-0.409402	0.02006	T	-0.589186	0.13736	T	0.0357982339977742	0.02946	T	0.910209	0.68156	D	0.024015607	0.01194	0.03555383	0.02829	0.024015607	0.01193	0.03555383	0.02829	-5.651	0.43255	T	.	.	0.060	0.00979	B	.	.	2.483975	0.32036	18.92	0.98979471862661128	0.49700	0.87428	0.46965	D	AEFBI	0.270417	0.38648	N	-0.295885169782972	0.29306	1.624058	-0.203347510759906	0.31415	1.777711	0.0015400499431388	0.08622	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	2.49	0.29274	3.132000	0.50218	0.743000	0.21176	0.524000	0.24156	0.994000	0.38300	0.275000	0.24072	0.829000	0.39076	0.0:0.6338:0.162:0.2042	5.551	0.16378	976	0.04745	PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	658.33	31	chr19	3751517	.	C	T	658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.44;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1215	18	0	1	0
chr19	3770753	3770753	-	CCCGGG	exonic	RAX2	.	nonframeshift insertion	RAX2:NM_001319074:exon3:c.422_423insCCCGGG:p.G141_L142insPG,RAX2:NM_032753:exon3:c.422_423insCCCGGG:p.G141_L142insPG	Cone-rod dystrophy 11, Autosomal dominant	3	1518	1	0	0	1	0.000329272	.	.	.	16281	not_provided|Cone-rod_dystrophy_11	MedGen:C3661900|MONDO:MONDO:0012483,MedGen:C1835865,OMIM:610381,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0026	0	0	0	.	0	0	0.0038	2.59e-05	4	154602	rs549932754	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	2.82e-05	0	2.838e-05	0	0	9.753e-05	0.0003	0.0043	0.0001	0.0001	0.0001	0.0002	0.0035	9.737e-05	8.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	5.882e-05	0.0005	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	467.29	34	chr19	3770753	.	C	CCCCGGG	467.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=734;ExcessHet=0;FS=9.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.218;SOR=2.217	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	18	0	1	0
chr19	3772012	3772015	TGTG	-	splicing	RAX2	.	.	.	Cone-rod dystrophy 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052305325	3.944e-05	0.0002	5.577e-05	2.488e-05	0.0003	2.366e-05	1.876e-05	9.064e-05	4.822e-05	0.0003	0	8.887e-05	0	9.016e-05	0	3.52e-05	4.694e-05	0	2.774e-05	3.323e-05	4.052e-05	1.425e-05	5.418e-05	8.48e-06	5.37e-06	8.98e-06	3.36e-06	5.418e-05	0	0	0	0	0	0	3.014e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	68.18	6	chr19	3772011	.	CTGTG	C	68.18	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0715;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=22.73;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:15:.:.:0,15,225:.	17	0	1	1
chr19	4013125	4013125	C	T	exonic	PIAS4	.	nonsynonymous SNV	PIAS4:NM_015897:exon2:c.C230T:p.P77L	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0143692912116	0.0007	0.000199681	0.0005	0.0002	0.0003	0	0.0002	0.0008	0	0.0002	0.0005175	80	154602	rs142623244	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	8.961e-05	0.0004	0	0	7.594e-05	0.0017	0.0007	0.0005	6.956e-05	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0005	0.0006	0.0006	0.0001	0.0385	0.0003	0	0	0	0.0068	0.0008	0	0.0002	0.141	0.25560	T	0.086	0.40909	T	0.081	0.24602	B	0.018	0.18489	B	0.007746	0.31217	N	0.363339	0.994748	0.42399	D	1.1	0.28011	L	1.41	0.33412	T	-1.43	0.35194	N	0.107	0.09207	-1.0888	0.05735	T	0.046	0.19599	T	10	0.005129069	0.00111	T	0.014369	0.34441	T	0.077	0.22490	.	.	0.278932316844	0.27492	0.4989567615131976	0.49816	0.732048271517	0.62766	0.407879471779	0.26164	T	0.154023	0.49512	T	-0.430703	0.01468	T	-0.450644	0.27625	T	0.0322830160578341	0.02352	T	0.873413	0.58193	D	0.045891844	0.07588	0.053772584	0.09122	0.045891844	0.07587	0.053772584	0.09121	-4.687	0.33246	T	.	.	0.063	0.01512	B	.	.	2.417713	0.31083	18.63	0.9610473025519477	0.28724	0.95692	0.65751	D	AEFBI	0.456644	0.50842	N	-0.352474580294949	0.27181	1.489256	-0.177516832081891	0.32366	1.840626	0.999934318713328	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	0.095000	0.14966	5.924000	0.51211	0.599000	0.40250	0.895000	0.31310	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	17.580	0.87865	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1768.33	35	chr19	4013125	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=845;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.649;SOR=1.086	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1244	18	0	1	0
chr19	4174700	4174700	C	T	exonic	SIRT6	.	nonsynonymous SNV	SIRT6:NM_001321061:exon6:c.G688A:p.A230T,SIRT6:NM_001321062:exon6:c.G580A:p.A194T,SIRT6:NM_001193285:exon7:c.G904A:p.A302T,SIRT6:NM_001321058:exon7:c.G769A:p.A257T,SIRT6:NM_001321059:exon7:c.G802A:p.A268T,SIRT6:NM_016539:exon8:c.G985A:p.A329T	.	432	1088	2	0	0	2	0.000918274	.	.	.	2376814	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0364158214322	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs200236361	3.583e-05	5.883e-05	3.708e-05	3.45e-05	0.0004	2.761e-05	2.474e-05	8.265e-05	6.353e-05	3.454e-05	4.493e-05	0	0	9.143e-05	0.0004	2.697e-05	1.846e-05	0.0002	3.962e-05	3.948e-05	2.579e-05	5.414e-05	0.0002	1.722e-05	1.134e-05	1.173e-05	6.25e-06	2.426e-05	0	0	0	0.0002	0	0	4.42e-05	0	0.0002	0.529	0.07048	T	0.545	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.025598	0.01633	N	2.551680	1	0.08975	N	0.55	0.14455	N	1.94	0.30669	T	-0.15	0.09297	N	0.033	0.00882	-1.0376	0.18048	T	0.032	0.13854	T	10	0.03673181	0.01987	T	0.036416	0.56977	D	0.079	0.23065	.	.	0.0611884634855	0.05136	0.16171475874538493	0.16092	0.353949585087	0.37183	0.436620056629	0.30115	T	0.072041	0.34357	T	-0.227986	0.16915	T	-0.565263	0.15886	T	0.018628353967668	0.00577	T	0.50435	0.18460	T	0.052054	0.09652	0.054560944	0.09408	0.052054	0.09651	0.054560944	0.09407	-4.545	0.33015	T	.	.	0.076	0.06114	B	.;.;.	.;.;.	-1.126710	0.00609	0.016	0.96791436934037434	0.31113	0.00984	0.03747	N	AEFDBI	0.057118	0.10615	N	-1.31925073572652	0.03455	0.1543634	-1.30900778146542	0.04313	0.2031509	0.16319916360632	0.17624	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.38	-1.92	0.07203	-1.935000	0.01641	-10.049000	0.00745	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.275000	0.23893	0.0:0.524:0.0:0.476	6.676	0.22283	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1138.33	34	chr19	4174700	.	C	T	1138.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.619;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr19	4217889	4217889	G	A	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon18:c.G2729A:p.R910H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.134509287276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407278495	1.516e-06	8.209e-06	0	3.082e-06	1.386e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	0	1.824e-05	1.386e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.038	0.51421	D	0.029	0.22227	B	0.005	0.12992	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.39	0.33842	T	-1.67	0.39887	N	0.092	0.12913	-1.0273	0.21331	T	0.050	0.21339	T	9	0.08962157	0.15541	T	0.134509	0.81694	D	0.024	0.04979	0.215	0.13498	0.112648838833	0.10856	0.19584140648752882	0.19501	0.340530058476	0.35994	0.922998487949	0.98543	D	0.004716	0.04123	T	-0.214302	0.18779	T	-0.545607	0.17750	T	0.106781434900717	0.13087	T	0.729327	0.34443	T	0.11875637	0.27975	0.11318826	0.27315	0.11875637	0.27975	0.11318826	0.27314	-7.079	0.55143	T	.	.	0.172	0.38747	B	.;.;.	.;.;.	4.111247	0.61381	24.3	0.99881864178747093	0.95813	0.17040	0.19662	N	AEFDBCI	0.079203	0.15993	N	-0.758763097892931	0.14396	0.716787	-0.718959199169966	0.16488	0.8725133	2.3947739388967E-5	0.03498	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.72	1.46	0.21769	0.817000	0.26938	7.257000	0.57948	0.563000	0.28513	0.002000	0.15269	1.000000	0.68203	0.975000	0.56047	0.2156:0.0:0.7844:0.0	7.745	0.28032	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	15	chr19	4217889	.	G	A	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=464;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=-1.109;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:72:.:.:0,72,1080:.	18	0	1	0
chr19	4254468	4254468	G	C	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon4:c.G384C:p.E128D	.	402	1111	9	0	0	9	0.00403407	.	.	.	3359935	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0593601088614	0.0005	.	0.0008	0.0001	0.0009	0	0	0.0013	0.0016	0.0002	0.0005304	82	154602	rs150087617	0.0006	0.0006	0.0005	0.0006	0.0081	0.0005	0.0005	0.0062	0.0056	0.0003	0.0009	0.0056	2.524e-05	0	0.0081	0.0004	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0006	7.227e-05	0	0.0005	0.0060	0	0	0.0136	0.0009	0.0024	0.0004	0.019	0.50132	D	0.067	0.44302	T	0.025	0.19245	B	0.07	0.27859	B	0.000666	0.42516	D	0.235430	0.99172	0.41458	D	.	.	.	1.29	0.35775	T	-1.96	0.45404	N	0.569	0.59223	-1.0305	0.20292	T	0.082	0.32148	T	10	0.0082217455	0.00187	T	0.05936	0.67638	D	0.068	0.19811	0.279	0.23323	0.447803500395	0.44404	0.4647437693849688	0.46393	1.16914040415	0.79708	0.837913870811	0.87776	D	0.044406	0.26805	T	-0.361764	0.04032	T	-0.355804	0.38538	T	0.0260679153479616	0.01416	T	0.948805	0.80311	D	0.2623805	0.49299	0.14808603	0.35018	0.2623805	0.49299	0.14808603	0.35017	-5.245	0.39396	T	.	.	0.557	0.67085	A	.;.	.;.	2.818147	0.37116	20.4	0.99622257348256038	0.75473	0.91130	0.52919	D	AEFDBI	0.385219	0.46605	N	-0.23623879006966	0.31655	1.777267	-0.135458384345548	0.33973	1.949063	3.77584693945741E-5	0.03775	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	2.06	0.25932	1.490000	0.35181	2.889000	0.35378	0.532000	0.24858	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.3356:0.0:0.6644:0.0	7.733	0.27961	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009346	0.000000	0.010870	0.017483	0.000000	0.008621	0.006098	0.000000	0.02632	891.33	33	chr19	4254468	.	G	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.454;DP=751;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.31;SOR=0.969	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1316	18	0	1	0
chr19	4267684	4267684	C	T	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon7:c.C769T:p.R257W	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0559187771413	0.0038	0.00239617	0.0027	0.0004	0.0026	0	0.0002	0.0042	0.0059	0.0004	0.0030401	470	154602	rs149224144	0.0045	0.0045	0.0046	0.0044	0.0085	0.0044	0.0044	0.0066	0.0059	0.0010	0.0043	0.0145	2.519e-05	0.0003	0.0085	0.0050	0.0049	0.0007	0.0033	0.0033	0.0034	0.0032	0.0056	0.0030	0.0029	0.0047	0.0043	0.0011	0	0.0056	0.0118	0.0002	9.413e-05	0.0103	0.0045	0.0080	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.969	0.72001	D	0.008110	0.31013	N	0.331465	1	0.08975	N	.	.	.	1.12	0.38718	T	-3.86	0.72471	D	0.36	0.40164	-0.9606	0.39068	T	0.136	0.45106	T	10	0.0053313375	0.00117	T	0.055919	0.66415	D	0.104	0.29647	.	.	0.653912592101	0.65102	0.3605280921804403	0.35966	0.441904996886	0.44173	0.440458506346	0.30639	T	0.138003	0.47125	T	-0.418518	0.01748	T	-0.368681	0.37043	T	0.0567885823498827	0.06654	T	0.783522	0.42019	T	0.17133884	0.37762	0.13191643	0.31667	0.17133884	0.37762	0.13191643	0.31666	-9.315	0.69701	D	.	.	0.134	0.28920	B	.	.	3.519185	0.49320	22.8	0.99844509020741112	0.92489	0.35260	0.25260	N	AEFDGBHCI	0.407546	0.47958	N	0.0268854939408461	0.43080	2.608024	-0.142578930569859	0.33694	1.930114	0.984373600322735	0.30707	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.699908	0.69081	0	.	.	4.96	1.53	0.22224	2.209000	0.42445	0.621000	0.20131	0.453000	0.21368	0.892000	0.31242	0.000000	0.08366	0.005000	0.06747	0.5208:0.3319:0.0:0.1474	6.275	0.20186	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.020202	0.010899	0.017647	0.000000	0.008621	0.009317	0.000000	0.02632	504.33	36	chr19	4267684	.	C	T	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.01;DP=695;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.06;SOR=0.425	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1215	18	0	1	0
chr19	4294605	4294605	C	T	exonic	TMIGD2	.	nonsynonymous SNV	TMIGD2:NM_001308232:exon3:c.G164A:p.R55H,TMIGD2:NM_001169126:exon4:c.G524A:p.R175H,TMIGD2:NM_144615:exon4:c.G524A:p.R175H	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0211141025595	0.0002	0.000399361	0.0002	0.0002	0	0.0020	0	3.075e-05	0	0.0002	0.000194	30	154602	rs370727587	7.749e-05	8.072e-05	8.732e-05	6.755e-05	0.0012	6.548e-05	6.151e-05	0.0009	0.0008	6.003e-05	0	0	0.0012	0	0.0004	4.053e-05	0.0002	8.152e-05	0.0001	0.0001	0.0001	0.0001	0.0025	9.745e-05	8.259e-05	0.0015	0.0012	7.223e-05	0	0	0	0.0025	0	0	4.412e-05	0.0009	0.0002	0.028	0.46129	D	0.038	0.51421	D	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0.805	0.20218	L	1.01	0.41058	T	-2.08	0.47514	N	0.276	0.36464	-1.0154	0.25207	T	0.051	0.21572	T	9	0.012134492	0.00262	T	0.021114	0.43839	T	0.012	0.01476	.	.	0.255777322467	0.25185	0.29312722372943134	0.29225	0.24130682908	0.26655	0.283466339111	0.07981	T	0.005081	0.21965	T	-0.603557	0.00139	T	-0.638791	0.09758	T	0.0219347887350715	0.00901	T	0.553245	0.19112	T	0.040501945	0.05794	0.04259317	0.05107	0.040501945	0.05794	0.04259317	0.05107	-5.772	0.44330	T	.	.	0.093	0.20780	B	.;.;.	.;.;.	1.285822	0.16863	12.81	0.99378930065963134	0.61803	0.04332	0.09892	N	AEFDBI	0.055592	0.10208	N	-1.16922543541366	0.05471	0.2494904	-1.23807113357386	0.05311	0.2526981	1.18981516122139E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	2.08	-0.427	0.11696	0.024000	0.13447	-1.782000	0.04736	-0.267000	0.06790	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2599:0.5708:0.0:0.1693	2.889	0.05322	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2037.81	33	chr19	4294605	.	C	T	2037.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.914;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=28.7;ReadPosRankSum=-0.391;SOR=0.363	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	1	0	0
chr19	4428747	4428747	C	A	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon8:c.C1461A:p.F487L	.	416	1105	1	0	0	1	0.000452284	.	.	.	2428663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0113990590311	.	.	3.312e-05	0	8.666e-05	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs758852937	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0009	1.803e-05	1.6e-05	0.0003	0.0002	5.974e-05	2.236e-05	0	0	0	0.0009	2.068e-05	8.279e-05	0	2.628e-05	2.627e-05	2.569e-05	2.689e-05	6.542e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.542e-05	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	0.319	0.19188	T	0.024	0.19075	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.875	0.21512	L	2.73	0.34648	T	0.64	0.02368	N	0.092	0.07125	-0.9657	0.38073	T	0.019	0.08173	T	9	0.069048375	0.09851	T	0.011399	0.28987	T	0.016	0.02506	0.255	0.19533	0.471275365318	0.46753	0.5247374738188536	0.52397	0.851093422288	0.68531	0.401512682438	0.25279	T	0.022402	0.17275	T	-0.386262	0.02843	T	-0.684958	0.06686	T	0.0232831870973777	0.01057	T	0.578742	0.21027	T	0.023104025	0.01023	0.06595395	0.13441	0.023104025	0.01023	0.06595395	0.13441	2.211	0.00043	T	.	.	0.625	0.69926	P	.;.	.;.	-1.374725	0.00379	0.007	0.48396287787501585	0.04035	0.35292	0.25268	N	AEFDBCI	0.121325	0.23593	N	-1.1591364834837	0.05631	0.2572209	-1.22420705049503	0.05523	0.2633902	0.148675366281945	0.17402	0.732398	0.92422	0	0.702456	0.74545	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.52	-3.71	0.04137	-2.603000	0.00964	-1.191000	0.06069	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1693:0.3511:0.4797	6.707	0.22443	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	34	chr19	4428747	.	C	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.458;DP=710;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.336;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	18	0	1	0
chr19	4497975	4497975	G	A	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon11:c.G1346A:p.R449Q,HDGFL2:NM_001348169:exon11:c.G1418A:p.R473Q,HDGFL2:NM_032631:exon11:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0155081712371	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs557632925	1.212e-05	1.368e-05	1.126e-05	1.3e-05	6.293e-05	7.38e-06	6.04e-06	2.438e-05	1.535e-05	6.276e-05	2.781e-05	0	0	0	0	7.402e-06	1.719e-05	6.293e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.334	0.19073	T	0.997	0.70673	D	0.953	0.69275	D	0.002538	0.36389	N	0.221418	0.909779	0.36380	D	2.47	0.71715	M	.	.	.	.	.	.	0.392	0.44474	-0.9233	0.45098	T	0.144	0.46623	T	10	0.21478143	0.38011	T	0.015508	0.36282	T	.	.	.	.	0.223474106383	0.21959	0.2685648486137788	0.26769	.	.	0.454678654671	0.32583	T	0.016961	0.13922	T	-0.170011	0.25233	T	-0.28635	0.46149	T	0.908202588558197	0.56272	D	0.840516	0.51562	T	0.09563022	0.22510	0.11463521	0.27673	0.09563022	0.22509	0.11463521	0.27672	-4.852	0.35191	T	.	.	0.154	0.35540	B	.;.	.;.	4.684646	0.75006	26.3	0.99762179773994564	0.85172	0.98001	0.78774	D	AEFBI	0.624184	0.60785	D	0.425421552830759	0.62825	4.50486	0.436928627816568	0.63881	4.631036	0.209268397029742	0.18219	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.768000	0.74775	11.630000	0.93694	0.665000	0.62972	0.995000	0.38783	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	13.514	0.60984	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2791.81	33	chr19	4497975	.	G	A	2791.81	.	AC=2;AF=0.053;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.39;SOR=0.999	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1210	18	1	0	0
chr19	4499635	4499635	-	AGCTGGCCGGGGAGG	exonic	HDGFL2	.	nonframeshift insertion	HDGFL2:NM_001001520:exon14:c.1720_1721insAGCTGGCCGGGGAGG:p.E584_A585insLAGEE,HDGFL2:NM_001348169:exon14:c.1792_1793insAGCTGGCCGGGGAGG:p.E608_A609insLAGEE,HDGFL2:NM_032631:exon14:c.1720_1721insAGCTGGCCGGGGAGG:p.E584_A585insLAGEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296529794	0.0073	0.0073	0.0075	0.0071	0.0111	0.0072	0.0072	0.0090	0.0085	0.0009	0.0044	0.0007	2.566e-05	0.0022	0.0111	0.0087	0.0069	0.0011	0.0052	0.0052	0.0055	0.0048	0.0084	0.0049	0.0048	0.0078	0.0076	0.0012	0	0.0077	0.0009	0	0.0020	0.0170	0.0084	0.0071	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	983.29	33	chr19	4499635	.	A	AAGCTGGCCGGGGAGG	983.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=-1.178;SOR=0.712	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1157	18	0	1	0
chr19	4504629	4504629	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon8:c.G3946A:p.V1316M	.	.	.	.	.	.	.	.	.	.	.	3572962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0935477666845	.	.	7.998e-05	0.0002	0.0002	0	0	4.07e-05	0	0.0002	4.53e-05	7	154602	rs776352514	2.893e-05	3.489e-05	2.467e-05	3.324e-05	0.0002	2.167e-05	1.921e-05	4.616e-05	3.399e-05	2.998e-05	6.781e-05	0	0	0	0.0002	2.432e-05	3.327e-05	9.362e-05	5.251e-05	5.249e-05	6.423e-05	4.027e-05	7.35e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	2.405e-05	0	6.533e-05	0	0	0	0.0034	7.35e-05	0	0	0.022	0.48642	D	0.014	0.62352	D	0.994	0.66517	D	0.721	0.54900	P	0.047135	0.23373	U	0.206162	1	0.08975	N	2.4	0.69460	M	3.46	0.05249	T	-1.13	0.29114	N	0.152	0.15609	-1.0676	0.09948	T	0.023	0.09832	T	10	0.12052107	0.22829	T	0.093548	0.76093	D	0.077	0.22490	0.433	0.48336	0.126345400529	0.12197	0.14935576484284097	0.14857	.	.	0.479379832745	0.35971	T	0.011211	0.10028	T	-0.320239	0.06877	T	-0.442732	0.28504	T	0.310141682624817	0.25420	T	0.673733	0.28234	T	0.06854926	0.14943	0.07405836	0.16159	0.06854926	0.14943	0.07405836	0.16159	-4.579	0.31907	T	.	.	0.239	0.47338	B	.;.	.;.	0.735298	0.11045	7.700	0.99704919121124314	0.80936	0.06840	0.12865	N	AEFDBIJ	0.078525	0.15844	N	-0.189572106772311	0.33568	1.905866	-0.339620412258624	0.26832	1.484683	0.990648518426896	0.32222	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	4.45	3.36	0.37579	0.216000	0.17370	-3.401000	0.02815	0.549000	0.26987	0.006000	0.17386	0.000000	0.08366	0.005000	0.06747	0.1766:0.546:0.2775:0.0	6.180	0.19680	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	779.33	33	chr19	4504629	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=2.8;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1120	18	0	1	0
chr19	4511211	4511211	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2749A:p.V917M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00939080297938	.	.	0.0003	0.0005	0	0.0001	0.0002	0.0002	0.0012	0.0005	0.0003946	61	154602	rs769319984	5.206e-05	0.0043	5.839e-05	4.58e-05	0.0007	4.042e-05	3.66e-05	0.0005	0.0004	0.0007	3.2e-05	0	0	4.893e-05	0	3.124e-05	9.034e-05	4.758e-05	0.0007	0.0052	0.0007	0.0007	0.0015	0.0005	0.0005	0.0009	0.0007	0.0012	0.0017	0.0004	0	0.0015	0.0008	0.0048	0.0003	0	0.0009	0.26	0.16574	T	0.307	0.19908	T	0.007	0.14184	B	0.004	0.10090	B	0.740128	0.06423	N	1.181700	1	0.08975	N	0.875	0.21512	L	3.39	0.05710	T	0.28	0.04233	N	0.058	0.05414	-0.9374	0.43025	T	0.009	0.03011	T	10	0.031235069	0.01256	T	0.009391	0.24623	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.01708455192069713	0.01663	.	.	0.213427990675	0.00966	T	0.011551	0.10288	T	-0.407116	0.02078	T	-0.82257	0.01401	T	0.0979720722637909	0.12133	T	0.59544	0.22725	T	0.031923324	0.03122	0.044263024	0.05693	0.031923324	0.03121	0.044263024	0.05693	-4.598	0.32147	T	.	.	0.089	0.15564	B	.;.	.;.	-2.147646	0.00072	0.001	0.62831121231388565	0.07064	0.01063	0.03945	N	AEFDGBCI	0.035987	0.04722	N	-2.32081468694113	0.00041	0.001751997	-2.40954356414081	0.00037	0.00164274	0.999972101397818	0.50053	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.86	-9.71	0.00433	-6.068000	0.00100	-20.000000	0.00162	-5.981000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0612:0.4231:0.1216:0.3941	7.067	0.24336	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046324	0.070707	0.036685	0.052632	0.000000	0.043103	0.064024	0.026515	0.0625	16851.0	600	chr19	4511211	.	C	T	16851.0	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.84;DP=7086;ExcessHet=0;FS=0;InbreedingCoeff=0.4502;MLEAC=2;MLEAF=0.063;MQ=58.35;MQRankSum=-0.37;QD=33.3;ReadPosRankSum=1.5;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1160	15	1	0	3
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	12451.6	756	chr19	4511563	.	C	*	12451.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.22;DP=10066;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.45;MQRankSum=-5.274;QD=4.79;ReadPosRankSum=-5.752;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:341,0:498:99:0|1:4511563_C_G:5400,6426,20728:4511563	7	0	1	11
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11996.6	756	chr19	4511566	.	A	*	11996.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.071;DP=10076;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.43;MQRankSum=-4.736;QD=4.55;ReadPosRankSum=-5.777;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:353,0:507:99:0|1:4511563_C_G:5272,6334,21140:4511563	7	0	1	11
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11170.6	756	chr19	4511568	.	C	*	11170.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.443;DP=10074;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.39;MQRankSum=-5.042;QD=4.24;ReadPosRankSum=-5.956;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:359,0:500:99:0|1:4511563_C_G:4839,5919,20977:4511563	7	0	1	11
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	10747.6	756	chr19	4511569	.	A	*	10747.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.82;DP=10081;ExcessHet=1.8123;FS=0.637;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.33;MQRankSum=-4.978;QD=4.07;ReadPosRankSum=-5.618;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:363,0:500:99:0|1:4511563_C_G:4659,5751,20977:4511563	7	0	1	11
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6433.57	756	chr19	4511586	.	A	*	6433.57	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.23;DP=10084;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=58.81;MQRankSum=-2.93;QD=2.43;ReadPosRankSum=-10.42;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:408,0:511:99:0|1:4511563_C_G:3096,4324,21439:4511563	7	0	1	11
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6175.56	756	chr19	4511587	.	C	*	6175.56	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.78;DP=10080;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=58.78;MQRankSum=-2.856;QD=2.33;ReadPosRankSum=-9.853;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:411,0:511:99:0|1:4511563_C_G:2961,4198,21439:4511563	7	0	1	11
chr19	4511607	4511607	T	0	exonic	PLIN4	.	.	.	.	411	783	127	0	201	328	0.0750148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1174.72	756	chr19	4511607	.	T	*	1174.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.56;DP=10214;ExcessHet=0.8432;FS=1.557;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.62;MQRankSum=-2.674;QD=0.61;ReadPosRankSum=-8.936;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:431,0:477:99:0|1:4511563_C_G:634,1932,20029:4511563	8	0	1	10
chr19	4511608	4511608	G	0	exonic	PLIN4	.	.	.	.	412	785	124	0	201	325	0.0731995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	964.72	756	chr19	4511608	.	G	*	964.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.21;DP=10209;ExcessHet=0.8432;FS=1.546;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.58;MQRankSum=-2.887;QD=0.51;ReadPosRankSum=-9.111;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:432,0:475:99:0|1:4511563_C_G:505,1806,19925:4511563	8	0	1	10
chr19	4511610	4511610	C	0	exonic	PLIN4	.	.	.	.	1	116	35	0	74	109	0.131086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	646.72	756	chr19	4511610	.	C	*	646.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=7.68;DP=10200;ExcessHet=0.8432;FS=1.592;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.47;MQRankSum=-3.369;QD=0.34;ReadPosRankSum=-9.001;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:431,0:469:99:0|1:4511563_C_G:298,1596,19673:4511563	8	0	1	10
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	185020.0	381	chr19	4511635	.	C	*	185020.0	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.1;DP=11491;ExcessHet=0.0128;FS=2.088;InbreedingCoeff=0.4722;MLEAC=1;MLEAF=0.029;MQ=58.28;MQRankSum=-7.087;QD=28;ReadPosRankSum=0.845;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:385:99:1|1:4511635_C_G:13811,13811,13811:4511635	16	0	1	2
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	130572.0	467	chr19	4511713	.	T	*	130572.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.76;DP=8558;ExcessHet=0.2174;FS=3.604;InbreedingCoeff=0.2755;MLEAC=1;MLEAF=0.031;MQ=57.38;MQRankSum=-1.524;QD=30.2;ReadPosRankSum=-1.865;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:123:99:1|1:4511635_C_G:5286,5289,5331:4511635	15	0	1	3
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	127794.0	467	chr19	4511718	.	T	*	127794.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.488;DP=8467;ExcessHet=0.4971;FS=3.49;InbreedingCoeff=0.1857;MLEAC=1;MLEAF=0.031;MQ=57.3;MQRankSum=-3.549;QD=30.15;ReadPosRankSum=0.931;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:113:65:0|1:4511635_C_G:4320,4347,4725:4511635	15	0	1	3
chr19	4511886	4511886	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2074A:p.V692M	.	.	.	.	.	.	.	.	.	.	.	2341833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0373094475989	.	.	3.312e-05	0.0001	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs779510597	8.995e-05	0.0001	0.0001	7.038e-05	0.0002	7.718e-05	7.261e-05	8.71e-05	8.184e-05	3.004e-05	0	0	2.521e-05	0	0.0002	0.0001	9.976e-05	9.293e-05	0.0001	0.0001	0.0001	0.0001	0.0006	7.584e-05	6.288e-05	0.0002	8.981e-05	4.838e-05	0	0	0	0	0	0	0.0002	0	0.0006	0.013	0.53900	D	0.069	0.43913	T	1.0	0.90584	D	0.941	0.67658	D	0.580065	0.11152	U	0.742875	1	0.08975	N	2.49	0.72568	M	3.17	0.07599	T	-1.54	0.37375	N	0.117	0.10626	-1.0832	0.06739	T	0.067	0.27606	T	10	0.13859391	0.26357	T	0.037309	0.57535	D	0.058	0.16647	.	.	0.0954503805726	0.09146	0.03351350620369954	0.03299	.	.	0.280169039965	0.07516	T	0.103415	0.41205	T	-0.45493	0.01056	T	-0.699569	0.05849	T	0.109581902623177	0.13380	T	0.779622	0.41374	T	0.06391732	0.13510	0.06107223	0.11734	0.06391732	0.13509	0.06107223	0.11733	-7.686	0.58910	D	.	.	0.106	0.23219	B	.;.	.;.	0.990676	0.13686	10.22	0.99603623363578697	0.74338	0.04099	0.09565	N	AEFDGBCI	0.048944	0.08405	N	-0.298603575265187	0.29203	1.617359	-0.530748813251379	0.21320	1.152789	0.00134467666813695	0.08462	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.421638	0.06922	2	.	.	5.31	2.03	0.25714	-1.512000	0.02362	-15.477000	0.00355	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7697:0.0:0.2303	9.708	0.39395	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1613.33	691	chr19	4511886	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=10007;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.53;MQRankSum=-14.57;QD=2.62;ReadPosRankSum=9.09;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0:443:99:.:.:0,120,1800:.	18	0	1	0
chr19	4511901	4511901	C	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2059T:p.D687Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0793387759283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.87e-07	4.118e-06	0	1.381e-06	2.246e-05	0	0	.	.	0	2.246e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.93	0.51791	P	0.7	0.54153	P	0.040720	0.24028	U	0.287773	0.99805	0.22380	N	2.555	0.74557	M	2.76	0.11515	T	-4.12	0.75058	D	0.678	0.68516	-1.0685	0.09746	T	0.059	0.24575	T	10	0.57938814	0.65763	D	0.079339	0.73212	D	0.074	0.21613	0.403	0.43408	0.171388866994	0.16791	0.21316421107547565	0.21232	.	.	0.30364048481	0.10946	T	0.192302	0.54742	T	-0.137108	0.30351	T	-0.434722	0.29399	T	0.925390779972076	0.58709	D	0.944805	0.79065	D	0.20723423	0.42922	0.14460865	0.34325	0.20723423	0.42922	0.14460865	0.34325	-10.321	0.75811	D	.	.	0.283	0.51592	B	.;.	.;.	2.130935	0.27130	17.36	0.97716542914794469	0.35531	0.08486	0.14409	N	AEFDGBCI	0.074455	0.14923	N	-0.35584669491426	0.27059	1.481555	-0.539655508951256	0.21080	1.138735	0.00166586903151919	0.08760	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	5.14	3.0	0.33773	0.121000	0.15496	0.772000	0.21405	-1.022000	0.01727	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.6943:0.1443:0.1613	7.102	0.24523	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1173.33	592	chr19	4511901	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.292;DP=9370;ExcessHet=0;FS=2.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=-12.61;QD=2.16;ReadPosRankSum=-1.277;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:443,0:443:99:.:.:0,120,1800:.	18	0	1	0
chr19	4792567	4792567	A	T	exonic	FEM1A	.	nonsynonymous SNV	FEM1A:NM_018708:exon1:c.A713T:p.Q238L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.02217067243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.84e-07	0	1.381e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.718	0.03949	T	0.27	0.22359	T	0.0	0.02946	B	0.002	0.06944	B	0.195110	0.16744	U	0.435882	0.99821	0.22287	N	0.065	0.08236	N	-0.26	0.67187	T	-0.69	0.19720	N	0.458	0.49511	-0.9730	0.36562	T	0.133	0.44504	T	10	0.12011528	0.22744	T	0.022171	0.45031	T	0.200	0.48430	0.411	0.44723	0.224531998449	0.22054	0.4340207842918106	0.43319	.	.	0.521978974342	0.41905	T	0.009759	0.08861	T	-0.0368382	0.46418	T	-0.290692	0.45700	T	0.106304988265038	0.13037	T	0.521048	0.16963	T	0.05551585	0.10801	0.025972443	0.00663	0.05551585	0.10800	0.025972443	0.00663	-2.518	0.05905	T	.	.	0.139	0.30318	B	.	.	2.570363	0.33303	19.30	0.72865369040899564	0.10123	0.81849	0.41172	D	AEFDBCI	0.307896	0.41464	N	-0.604942631989398	0.18794	0.9786615	-0.554521363132606	0.20686	1.115625	0.99999999351567	0.74766	0.733237	0.96898	0	0.672317	0.65289	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	3.23	2.14	0.26518	3.874000	0.55814	6.566000	0.55953	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.4663:0.4069:0.1269:0.0	4.323	0.10468	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1594.33	33	chr19	4792567	.	A	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.673;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.69;SOR=0.69	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1364	18	0	1	0
chr19	4816838	4816838	C	T	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.G1405A:p.D469N,TICAM1:NM_182919:exon2:c.G1540A:p.D514N,TICAM1:NM_001385678:exon3:c.G1498A:p.D500N,TICAM1:NM_001385680:exon3:c.G898A:p.D300N	.	0	1521	0	1	0	2	0.00065703	.	.	.	1427072	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.041162818969	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001488	23	154602	rs543684306	6.163e-05	6.156e-05	3.271e-05	9.084e-05	0.0010	5.1e-05	4.72e-05	0.0008	0.0008	0	0	0	0	0	0.0002	0	6.624e-05	0.0010	4.597e-05	4.593e-05	6.424e-05	2.686e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.06	0.37326	T	0.14	0.33554	T	0.001	0.07471	B	0.004	0.10090	B	0.862857	0.07127	N	1.096080	0.910771	0.27511	N	1.845	0.48678	L	0.57	0.54347	T	-3.08	0.63323	D	0.39	0.43803	-0.8786	0.49872	T	0.177	0.52256	T	10	0.024168074	0.00656	T	0.041163	0.59779	D	0.103	0.29403	0.404	0.43573	0.260580752073	0.25663	.	.	0.222697933434	0.24806	0.339863836765	0.16417	T	0.599053	0.87123	D	-0.524653	0.00413	T	-0.571956	0.15271	T	0.084187401785345	0.10514	T	0.69563	0.30512	T	0.1611747	0.36108	0.112844475	0.27229	0.1611747	0.36108	0.112844475	0.27228	-4.798	0.34568	T	.	.	0.204	0.42920	B	.;.	.;.	2.848787	0.37605	20.5	0.99350871515989392	0.60574	0.73942	0.36167	D	AEFDBHCI	0.124511	0.24059	N	-0.396143605695173	0.25606	1.391247	-0.364646499968684	0.26059	1.437018	0.991807453613766	0.32614	0.67177	0.52595	0	0.702456	0.74545	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	4.59	2.43	0.28797	1.007000	0.29462	2.671000	0.33948	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.7484:0.0:0.2516	8.702	0.33493	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2624.33	37	chr19	4816838	.	C	T	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.6;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.1;SOR=0.714	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr19	4817681	4817681	C	G	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.G562C:p.D188H,TICAM1:NM_182919:exon2:c.G697C:p.D233H,TICAM1:NM_001385678:exon3:c.G655C:p.D219H,TICAM1:NM_001385680:exon3:c.G55C:p.D19H	.	0	1520	2	0	0	2	0.000657462	.	.	.	573202	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00818373280196	.	.	0.0001	0	0	0	0	9.472e-05	0	0.0006	9.06e-05	14	154602	rs141739488	7.123e-05	7.114e-05	5.537e-05	8.737e-05	0.0011	5.968e-05	5.57e-05	0.0005	0.0004	0	0	4.159e-05	0	0	0.0011	4.463e-05	5.068e-05	0.0005	6.572e-05	6.563e-05	9.003e-05	4.032e-05	0.0001	3.517e-05	2.617e-05	6.807e-05	5.09e-05	2.409e-05	0	0	0	0	0	0	0.0001	0	0	0.226	0.18562	T	0.133	0.34359	T	0.031	0.20130	B	0.012	0.16012	B	0.262410	0.03718	N	1.740110	1	0.08975	N	0.755	0.19153	N	0.84	0.47477	T	-0.82	0.22508	N	0.039	0.03841	-1.0386	0.17740	T	0.079	0.31314	T	10	0.038913608	0.02343	T	0.008184	0.21674	T	0.023	0.04649	.	.	0.128874641272	0.12493	.	.	0.263343563485	0.28890	0.341755330563	0.16701	T	0.116188	0.43534	T	-0.574185	0.00209	T	-0.724162	0.04598	T	0.0135087833040097	0.00248	T	0.433257	0.11819	T	0.02901167	0.02329	0.03463913	0.02566	0.02901167	0.02329	0.03463913	0.02566	-3.621	0.18161	T	.	.	0.087	0.18372	B	.;.	.;.	-0.912610	0.00905	0.033	0.85508148488253866	0.15936	0.16334	0.19340	N	AEFDBCI	0.107047	0.21339	N	-1.22073944059147	0.04700	0.2126734	-1.28803800218613	0.04591	0.2169343	0.00118801546671862	0.08314	0.706548	0.73137	0	0.697927	0.68747	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.13	-2.95	0.05229	-0.363000	0.07645	-2.061000	0.04272	-1.003000	0.01794	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.3105:0.5178:0.1717	7.915	0.28974	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	751.33	37	chr19	4817681	.	C	G	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.143;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-2.142;SOR=0.589	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,117,1755	18	0	1	0
chr19	4859619	4859619	G	T	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon4:c.C319A:p.L107I,PLIN3:NM_001164194:exon4:c.C319A:p.L107I,PLIN3:NM_005817:exon4:c.C319A:p.L107I	.	416	1079	26	1	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0111998595391	0.0035	0.00199681	0.0040	0.0009	0.0032	0	0	0.0056	0.0033	0.0041	0.0042108	651	154602	rs11552104	0.0047	0.0047	0.0047	0.0047	0.0146	0.0046	0.0046	0.0121	0.0111	0.0008	0.0027	0.0077	0	0.0004	0.0146	0.0052	0.0048	0.0039	0.0034	0.0034	0.0037	0.0030	0.0054	0.0032	0.0031	0.0050	0.0048	0.0007	0.0110	0.0033	0.0089	0.0002	0	0.0170	0.0054	0.0038	0.0031	0.0	0.91255	D	0.053	0.48080	T	1.0	0.90584	D	0.999	0.92359	D	0.005490	0.32753	U	0.204155	0.977048	0.25337	N	2.62	0.76659	M	3.04	0.08810	T	-1.81	0.42575	N	0.402	0.44283	-1.0979	0.04354	T	0.049	0.20868	T	10	0.011464447	0.00250	T	0.011	0.28580	T	0.120	0.33359	.	.	0.115124310173	0.11017	0.3354490691648278	0.33457	0.443632335628	0.44285	0.417411506176	0.27481	T	0.115009	0.43327	T	-0.515503	0.00467	T	-0.510926	0.21221	T	0.030477355265993	0.02063	T	0.872813	0.58047	D	0.39618346	0.60467	0.27863643	0.53826	0.39618346	0.60468	0.27863643	0.53825	-9.373	0.70097	D	.	.	0.121	0.35098	B	.;.;.;.;.	.;.;.;.;.	3.248576	0.44377	21.9	0.9952486459899893	0.69469	0.89251	0.49603	D	AEFDBI	0.220090	0.34489	N	0.340190083051879	0.58222	3.993413	0.245947758249608	0.52420	3.416867	0.656106833645402	0.22219	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.2	3.11	0.34883	1.023000	0.29668	2.486000	0.32962	0.569000	0.28856	0.740000	0.29026	0.997000	0.33255	0.875000	0.41745	0.0917:0.1605:0.5824:0.1654	4.139	0.09654	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.026316	0.000000	0.025862	0.012195	0.015152	0.02632	1393.33	33	chr19	4859619	.	G	T	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=744;ExcessHet=0;FS=4.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.58;SOR=0.851	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1454	18	0	1	0
chr19	4891552	4891552	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon3:c.G481A:p.E161K,ARRDC5:NM_001367189:exon4:c.G547A:p.E183K	.	432	1064	24	2	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00410282417331	0.0033	0.00239617	0.0039	0.0011	0.0032	0	0.0003	0.0056	0.0060	0.0027	0.0036287	561	154602	rs117229323	0.0046	0.0046	0.0046	0.0046	0.0107	0.0045	0.0045	0.0086	0.0078	0.0010	0.0044	0.0089	0	0.0005	0.0107	0.0050	0.0052	0.0027	0.0037	0.0037	0.0037	0.0037	0.0069	0.0035	0.0034	0.0059	0.0055	0.0010	0	0.0069	0.0052	0	0.0003	0.0340	0.0055	0.0047	0.0015	0.296	0.14694	T	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.005155	0.33053	N	0.139503	0.999958	0.19072	N	2.255	0.64187	M	2.12	0.19726	T	-1.55	0.37566	N	0.099	0.08088	-1.0063	0.28065	T	0.019	0.08033	T	10	0.004798323	0.00102	T	0.004103	0.09806	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.30261166566913883	0.30174	0.141106849071	0.15915	0.377224206924	0.21861	T	0.034748	0.23446	T	-0.5912	0.00165	T	-0.618687	0.11289	T	0.00692169043717743	0.00078	T	0.626737	0.24270	T	0.052711822	0.09870	0.05264129	0.08714	0.052711822	0.09870	0.05264129	0.08714	-4.812	0.34731	T	.	.	0.070	0.03588	B	.	.	1.423129	0.18399	13.72	0.9374996075781642	0.23690	0.02154	0.06332	N	AEFGBI	0.046700	0.07783	N	-1.13271059564567	0.06069	0.2784059	-1.13582331712859	0.07025	0.340216	0.0685876650961028	0.15462	0.594549	0.33734	0	0.486142	0.07564	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.92	0.412	0.15614	-0.170000	0.09886	-0.527000	0.08657	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.483:0.1589:0.3581	4.368	0.10668	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009615	0.010101	0.008152	0.015060	0.000000	0.017241	0.009146	0.011364	0.02632	1145.33	35	chr19	4891552	.	C	T	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=702;ExcessHet=0;FS=3.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.397;SOR=1.213	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1159,0,901	18	0	1	0
chr19	4954746	4954746	G	A	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon14:c.G2093A:p.R698K,UHRF1:NM_001048201:exon15:c.G2054A:p.R685K,UHRF1:NM_001290050:exon15:c.G2054A:p.R685K,UHRF1:NM_001290051:exon15:c.G2054A:p.R685K,UHRF1:NM_001290052:exon15:c.G2054A:p.R685K	.	433	1049	38	2	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0041	0.00279553	0.0049	0.0008	0.0021	0	0.0015	0.0056	0.0045	0.0106	0.0005692	88	154602	rs62621801	0.0052	0.0052	0.0048	0.0055	0.0140	0.0051	0.0050	0.0118	0.0116	0.0007	0.0028	0.0143	5.038e-05	0.0010	0.0140	0.0049	0.0064	0.0124	0.0042	0.0042	0.0043	0.0040	0.0131	0.0039	0.0038	0.0105	0.0095	0.0008	0	0.0042	0.0147	0.0002	0.0009	0.0034	0.0058	0.0076	0.0131	.	.	.	1.0	0.04603	T	0.0	0.02946	B	0.001	0.04355	B	0.021601	0.26803	N	0.389904	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9664	0.37934	T	0.025	0.10598	T	7	0.0033281147	0.00057	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.5011052632260251	0.50032	.	.	0.265116155148	0.05515	T	0.084796	0.37357	T	-0.781554	0.00011	T	-0.886029	0.00606	T	0.0148856521144319	0.00315	T	0.783522	0.42019	T	0.14534879	0.33323	0.118098706	0.28508	0.14534879	0.33323	0.118098706	0.28508	-3.702	0.19348	T	.	.	0.060	0.01011	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.138487	0.05329	1.817	0.50478674859723482	0.04391	0.14024	0.18181	N	AEFGBHI	.	.	.	-1.61723298231365	0.01181	0.05133813	-1.65181575236333	0.01366	0.06172264	0.033033839052933	0.14085	0.156188	0.03335	0	0.12628	0.03447	0	0.17184	0.04098	0	0.221052	0.04502	0	0.193795	0.30138	4.78	-6.23	0.01875	1.269000	0.32677	0.576000	0.19656	-1.899000	0.00526	0.978000	0.35038	0.380000	0.24611	0.038000	0.14061	0.2793:0.0:0.5268:0.1939	9.401	0.37594	958	0.09170	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.015152	0.05263	5640.81	36	chr19	4954746	.	G	A	5640.81	.	AC=2;AF=0.053;AN=38;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.43;QD=32.05;SOR=0.787	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	1	0	0
chr19	5220297	5220297	G	T	exonic	PTPRS	.	nonsynonymous SNV	PTPRS:NM_130853:exon13:c.C2219A:p.T740N,PTPRS:NM_130855:exon14:c.C2231A:p.T744N,PTPRS:NM_130854:exon17:c.C3446A:p.T1149N,PTPRS:NM_002850:exon21:c.C3512A:p.T1171N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0183159530372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.13557	T	0.0	0.02946	B	0.0	0.08700	B	0.026714	0.25874	U	0.338156	1	0.08975	N	-1.405	0.00592	N	0.72	0.54540	T	.	.	.	0.123	0.12055	-1.0587	0.12083	T	0.043	0.18410	T	10	0.037428975	0.02097	T	0.018316	0.40344	T	0.027	0.05988	0.273	0.22369	0.0675242888579	0.06100	0.7304463360276179	0.72989	.	.	0.419117093086	0.27715	T	0.105491	0.41600	T	-0.213205	0.18929	T	-0.54403	0.17903	T	0.0501653216779232	0.05529	T	0.776822	0.43036	T	0.048543144	0.08476	0.048387446	0.07176	0.048543144	0.08476	0.048387446	0.07175	-5.451	0.41858	T	.	.	0.068	0.11172	B	.;.;.;.;.	.;.;.;.;.	1.253518	0.16507	12.58	0.74295383018418015	0.10642	0.30999	0.24226	N	AEFDGBI	0.076420	0.15372	N	-0.975082648932921	0.09138	0.4312528	-0.845580284123242	0.13394	0.6945807	0.00351060920617483	0.10150	0.706298	0.61202	0	0.633656	0.55848	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.92	-1.46	0.08338	0.438000	0.21277	2.439000	0.32764	-0.148000	0.12190	0.988000	0.36536	0.971000	0.29754	0.711000	0.34484	0.1131:0.131:0.2727:0.4832	2.102	0.03458	976	0.04745	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.33	33	chr19	5220297	.	G	T	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=764;ExcessHet=0;FS=21.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.771;SOR=4.174	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	18	0	1	0
chr19	5587737	5587737	C	T	exonic	SAFB2	.	nonsynonymous SNV	SAFB2:NM_014649:exon20:c.G2669A:p.G890E	.	421	1070	29	2	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	0.00579073	0.0123	0	0.005	0	0	0.0028	0.0156	0.0279	0.002335	361	154602	rs200613061	0.0022	0.0022	0.0014	0.0029	0.0264	0.0021	0.0021	0.0255	0.0251	0.0002	0.0014	0.0041	2.792e-05	0.0003	0.0090	0.0005	0.0027	0.0264	0.0014	0.0014	0.0011	0.0017	0.0250	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0014	0.0052	0	0.0002	0.0034	0.0005	0.0033	0.0250	0.003	0.68238	D	0.085	0.41074	T	0.965	0.56013	D	0.559	0.49531	P	0.019005	0.27353	N	0.259107	0.999976	0.18612	N	1.78	0.46185	L	3.02	0.08986	T	-3.47	0.67824	D	0.675	0.68255	-1.0867	0.06102	T	0.024	0.10194	T	10	0.007586062	0.00172	T	.	.	.	0.112	0.31546	.	.	0.187035705434	0.18338	0.15805788808572238	0.15726	0.265702687917	0.29123	0.610117137432	0.54332	T	0.134187	0.46529	T	-0.457542	0.01018	T	-0.409054	0.32335	T	0.0399240815428122	0.03676	T	0.935906	0.76011	D	0.25445426	0.48473	0.2747119	0.53402	0.25445426	0.48473	0.2747119	0.53401	-7.53	0.57822	D	.	.	0.298	0.52841	B	.	.	3.877911	0.56346	23.7	0.99100971918731073	0.52471	0.73588	0.35995	D	AEFDBHCI	0.159565	0.28538	N	0.0667775313195468	0.44917	2.757205	-0.0566194688661995	0.37205	2.175265	0.925377295047793	0.26813	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	4.0	0.45673	3.018000	0.49310	3.980000	0.40897	0.599000	0.40250	0.989000	0.36753	0.997000	0.33255	0.059000	0.15899	0.1948:0.8051:0.0:0.0	10.376	0.43265	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011579	0.000000	0.000000	0.015060	0.000000	0.000000	0.012658	0.044000	0.02632	986.33	35	chr19	5587737	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.577;DP=741;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.963;SOR=0.939	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	18	0	1	0
chr19	5687976	5687976	G	A	exonic	HSD11B1L	.	nonsynonymous SNV	HSD11B1L:NM_001267870:exon5:c.G557A:p.R186Q	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs544743697	5.067e-05	5.814e-05	3.664e-05	6.508e-05	0.0008	4.096e-05	3.76e-05	0.0006	0.0006	0	5.521e-05	0	0	0	0	2.778e-06	6.891e-05	0.0008	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	2.405e-05	0	6.537e-05	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015899777	0.00334	T	.	.	.	.	.	.	.	0.7492080826	0.74694	.	.	.	.	.	.	.	.	.	.	-0.69251	0.00040	T	-0.823867	0.01376	T	.	.	.	0.355164	0.08047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25462	B	.	.	0.666997	0.10352	7.082	0.72275789815742175	0.09917	0.03061	0.07965	N	AEFBI	0.027901	0.02361	N	.	.	.	.	.	.	0.999751173422318	0.42595	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	1.84	0.787	0.17740	0.897000	0.28022	-0.165000	0.11284	0.526000	0.24426	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.1716:0.0:0.8284:0.0	5.948	0.18464	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	36	chr19	5687976	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=827;ExcessHet=0;FS=5.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.763;SOR=1.155	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	18	0	1	0
chr19	5693698	5693698	C	T	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon16:c.G1804A:p.G602S,LONP1:NM_004793:exon16:c.G2392A:p.G798S,LONP1:NM_001276479:exon17:c.G2200A:p.G734S	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	656598	LONP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.293	.	.	0.00279553	0.0009	0	8.666e-05	0.0125	0	0	0	0	0.000912	141	154602	rs201378376	0.0003	0.0003	0.0003	0.0003	0.0066	0.0003	0.0003	0.0060	0.0057	5.974e-05	0.0001	0	0.0066	0	0	5.396e-06	0.0027	4.637e-05	0.0005	0.0005	0.0004	0.0007	0.0127	0.0004	0.0004	0.0103	0.0094	0	0	0.0003	0	0.0127	0	0	0	0.0019	0.0010	0.078	0.33923	T	0.04	0.52727	D	0.988	0.62325	D	0.901	0.63994	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.025	0.86340	M	1.33	0.35031	T	-4.73	0.80340	D	0.759	0.85343	-0.5008	0.68621	T	0.196	0.55071	T	10	0.008383751	0.00190	T	.	.	.	0.293	0.61272	.	.	0.61189578863	0.60877	0.8850105677541368	0.88470	0.937719449075	0.72095	0.535802125931	0.43853	T	0.647036	0.89243	D	-0.286556	0.09985	T	-0.170769	0.57372	T	0.135733506483197	0.15902	T	0.945105	0.79107	D	0.84205866	0.86756	0.66378164	0.80290	0.8723456	0.89049	0.6907878	0.81806	-10.483	0.76749	D	0.2311561327152985	0.31280	0.636	0.73148	P	.;.;.;.;.;.	.;.;.;.;.;.	4.670258	0.74633	26.2	0.99842201487616877	0.92229	0.99505	0.96840	D	AEFDBHCI	0.853690	0.77066	D	0.635338201706812	0.75420	6.303185	0.508798183693544	0.68580	5.239811	0.999999999998379	0.74766	0.751926	0.98777	0	0.672317	0.65289	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	4.35	4.35	0.51454	7.134000	0.76871	6.827000	0.56683	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.0:1.0:0.0:0.0	14.371	0.66405	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1991.33	34	chr19	5693698	.	C	T	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=753;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.858;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr19	5719813	5719813	G	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_004793:exon1:c.C320G:p.P107R,LONP1:NM_001276479:exon2:c.C128G:p.P43R	CODAS syndrome, Autosomal recessive	0	224	1	0	1	2	0.00222717	.	.	.	1490293	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	0.0276939023904	.	.	9.646e-05	0	0	0.0001	0	3.216e-05	0.0012	0.0004	7.76e-05	12	154602	rs748759945	4.043e-05	4.036e-05	4.772e-05	3.306e-05	0.0002	3.184e-05	2.915e-05	7.127e-05	5.484e-05	0	2.239e-05	0	0	3.824e-05	0.0002	3.509e-05	8.297e-05	0.0001	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0.0002	0	0	5.88e-05	0	0	0.027	0.46513	D	0.027	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999976	0.81001	D	0.895	0.22405	L	2.3	0.49358	T	-3.39	0.66896	D	0.378	0.54932	-1.1320	0.01689	T	0.070	0.28544	T	10	0.6136944	0.67662	D	0.027694	0.50478	D	0.233	0.53499	.	.	0.508465569856	0.50487	0.49647314167670553	0.49568	1.10128899491	0.77738	0.751111030579	0.74611	T	0.510377	0.82678	D	-0.102383	0.36029	T	-0.08865	0.64263	T	0.697030663490295	0.40577	D	0.766023	0.39899	T	0.28784245	0.51791	0.20008379	0.43923	0.28784245	0.51791	0.20008379	0.43922	-7.211	0.55560	T	.	.	0.226	0.54012	B	.;.;.	.;.;.	4.967370	0.82174	27.7	0.99702554821166545	0.80729	0.91032	0.52727	D	AEFDBHCI	0.883685	0.81279	D	0.581288630428611	0.72009	5.738465	0.562714112613875	0.72286	5.786001	0.999999999938325	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.57	3.48	0.38946	8.339000	0.89949	8.184000	0.76782	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:0.8264:0.1736	11.901	0.51963	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1354.33	35	chr19	5719813	.	G	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=764;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.787;SOR=0.49	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1294	18	0	1	0
chr19	5751676	5751676	C	G	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon12:c.C1017G:p.D339E	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00279689982546	0.0012	0.00119808	0.0010	0.0003	9.053e-05	0	0.0006	0.0008	0	0.0036	0.0009185	142	154602	rs182429615	0.0011	0.0011	0.0011	0.0012	0.0027	0.0011	0.0011	0.0024	0.0023	0.0002	0.0001	0	0	0.0008	0	0.0012	0.0010	0.0027	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0006	0.0011	0.0010	0.0001	0	0.0003	0	0.0002	0.0008	0	0.0014	0.0009	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.813571	0.09233	N	0.866565	1	0.08975	N	-0.805	0.01590	N	2.09	0.20122	T	0.98	0.01447	N	0.125	0.11769	-0.9424	0.42234	T	0.019	0.07753	T	10	0.005914569	0.00132	T	0.002797	0.05840	T	0.018	0.03083	0.301	0.26843	0.0551355673512	0.04727	0.13120088681055211	0.13045	0.14476756542	0.16355	0.311209350824	0.12089	T	0.001084	0.00603	T	-0.765569	0.00014	T	-0.875514	0.00692	T	0.012062929750252	0.00191	T	0.162984	0.01479	T	0.0257031	0.01537	0.034226887	0.02454	0.0257031	0.01537	0.034226887	0.02453	-4.126	0.25672	T	.	.	0.124	0.26138	B	.	.	-1.924797	0.00120	0.002	0.3126584607533433	0.01753	0.00063	0.00458	N	AEFDBI	0.012733	0.00147	N	-2.60628794479312	0.00009	0.0003901138	-2.58497885225901	0.00015	0.0006500489	0.00309526264602062	0.09922	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.53	-4.38	0.03371	-2.333000	0.01188	-3.051000	0.03105	-3.100000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0853:0.5635:0.3512:0.0	11.805	0.51420	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	408.33	33	chr19	5751676	.	C	G	408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.338;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	18	0	1	0
chr19	5766146	5766146	T	C	exonic	CATSPERD	.	nonsynonymous SNV	CATSPERD:NM_152784:exon17:c.T1550C:p.V517A	.	434	1086	2	0	0	2	0.000919963	.	.	.	4118998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00363870104672	.	0.000199681	7.597e-05	0	0	0	0	1.517e-05	0	0.0005	6.47e-05	10	154602	rs531770682	5.408e-05	5.472e-05	3.405e-05	7.43e-05	0.0008	4.413e-05	4.085e-05	0.0006	0.0006	0	0	0	0	0	0.0003	8.097e-06	3.315e-05	0.0008	4.604e-05	4.595e-05	3.86e-05	5.382e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	2.411e-05	0	0	0	0	0	0	1.471e-05	0	0.0010	0.384	0.11050	T	0.013	0.63109	D	0.988	0.62325	D	0.647	0.52336	P	0.450311	0.12516	N	0.648862	1	0.08975	N	1.935	0.51832	L	1.79	0.25509	T	-2.44	0.53420	N	0.657	0.66700	-1.0825	0.06871	T	0.066	0.27330	T	10	0.20600018	0.36845	T	0.003639	0.08371	T	0.076	0.22200	0.284	0.24121	0.281381271821	0.27740	0.36242192615293783	0.36156	0.290016544937	0.31410	0.433855056763	0.29736	T	0.004478	0.03887	T	-0.439275	0.01306	T	-0.4965	0.22710	T	0.768999218940735	0.44379	D	0.415758	0.10904	T	0.0919567	0.21561	0.084603846	0.19475	0.0919567	0.21561	0.084603846	0.19475	-7.622	0.58464	D	.	.	0.300	0.53001	B	.	.	3.288363	0.45089	22.1	0.97469247033080508	0.34126	0.08731	0.14618	N	AEFI	0.038098	0.05342	N	-0.212938936817115	0.32602	1.840402	-0.382368017284461	0.25522	1.404099	3.30774488756497E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.05	3.05	0.34272	2.630000	0.46160	2.760000	0.34598	0.661000	0.55757	0.037000	0.20830	0.168000	0.23319	0.058000	0.15825	0.0:0.0:0.0:1.0	7.899	0.28886	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	602.33	43	chr19	5766146	.	T	C	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=751;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.019;SOR=0.432	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	16	0	3	0
chr19	5831904	5831904	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G664A:p.G222R,FUT6:NM_001381957:exon2:c.G664A:p.G222R,FUT6:NM_000150:exon3:c.G664A:p.G222R,FUT6:NM_001381955:exon3:c.G664A:p.G222R,FUT6:NM_001381959:exon3:c.G664A:p.G222R,FUT6:NM_001369502:exon4:c.G664A:p.G222R,FUT6:NM_001369504:exon4:c.G664A:p.G222R,FUT6:NM_001369505:exon4:c.G664A:p.G222R,FUT6:NM_001381956:exon4:c.G664A:p.G222R,FUT6:NM_001381958:exon5:c.G664A:p.G222R	Fucosyltransferase 6 deficiency	.	.	.	.	.	.	.	.	.	.	4147844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.518	0.239222967908	0.0002	.	3.295e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs146312446	1.026e-05	1.026e-05	1.225e-05	8.251e-06	0.0002	6.16e-06	4.89e-06	7.282e-05	5.161e-05	2.988e-05	0.0002	0	0	0	0.0002	3.598e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	2.57e-05	2.687e-05	0.0002	8.14e-06	5.14e-06	1.915e-05	1.031e-05	7.222e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000030	0.55875	U	0.000000	0.998488	0.44980	D	4.2	0.97819	H	-1.42	0.80645	T	-7.92	0.96243	D	0.44	0.66787	0.823	0.94694	D	0.792	0.92956	D	10	0.7904728	0.78616	D	0.239223	0.88621	D	0.518	0.79461	0.968	0.99691	0.939175187979	0.93854	0.6424819392194462	0.64183	1.27675254131	0.82425	0.546465933323	0.45358	T	0.280468	0.65317	T	-0.0500953	0.44433	T	-0.0404351	0.67672	D	0.996746420860291	0.89989	D	0.936306	0.79443	D	0.90404284	0.91747	0.82763934	0.90032	0.90404284	0.91748	0.82763934	0.90032	-13.836	0.92512	D	.	.	0.889	0.82389	P	.;.;.;.;.	.;.;.;.;.	3.271362	0.44781	22.0	0.99766420874988759	0.85500	0.98251	0.80941	D	AEFBI	0.808378	0.73217	D	0.524576645079641	0.68547	5.232321	0.232196739445299	0.51643	3.345036	0.35890664254148	0.19758	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	3.07	0.34476	5.099000	0.64388	1.540000	0.27221	0.448000	0.21234	1.000000	0.71638	0.347000	0.24452	0.016000	0.10718	0.0:1.0:0.0:0.0	12.415	0.54824	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3102.33	34	chr19	5831904	.	C	T	3102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.28;DP=1979;ExcessHet=0;FS=8.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-0.054;QD=11.75;ReadPosRankSum=-0.977;SOR=0.93	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	18	0	1	0
chr19	5844498	5844498	C	G	exonic	FUT3	.	nonsynonymous SNV	FUT3:NM_001097641:exon2:c.G342C:p.M114I,FUT3:NM_000149:exon3:c.G342C:p.M114I,FUT3:NM_001097639:exon3:c.G342C:p.M114I,FUT3:NM_001097640:exon3:c.G342C:p.M114I,FUT3:NM_001374740:exon3:c.G342C:p.M114I,FUT3:NM_001382744:exon3:c.G342C:p.M114I,FUT3:NM_001382745:exon3:c.G342C:p.M114I,FUT3:NM_001382746:exon3:c.G342C:p.M114I,FUT3:NM_001382747:exon3:c.G342C:p.M114I,FUT3:NM_001382748:exon3:c.G342C:p.M114I,FUT3:NM_001382749:exon3:c.G342C:p.M114I,FUT3:NM_001382750:exon3:c.G342C:p.M114I	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00305541604976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.993e-07	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.09927	T	0.406	0.14725	T	.	.	.	.	.	.	0.472076	0.12265	N	0.714179	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.3	0.32590	N	0.069	0.04188	-0.9828	0.34351	T	0.047	0.20156	T	10	0.08121601	0.13269	T	0.003055	0.06577	T	0.009	0.00846	0.426	0.47185	0.218845423259	0.21516	0.40348989135838115	0.40264	0.878634295547	0.69672	0.366599291563	0.20343	T	.	.	.	-0.266711	0.12126	T	-0.620889	0.11116	T	0.270576179027557	0.23772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.54804	B	.;.;.;.	.;.;.;.	-0.372706	0.02317	0.246	0.69927265038672115	0.09129	0.00700	0.02976	N	AEFDBI	0.054861	0.10012	N	-1.22596685707652	0.04626	0.2091907	-1.40209379253189	0.03231	0.1503043	1.12768672492072E-4	0.05269	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.24	-4.49	0.03257	-1.282000	0.02907	-0.291000	0.10192	0.237000	0.18210	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1584:0.5342:0.3074:0.0	6.625	0.22016	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2216.33	38	chr19	5844498	.	C	G	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=2006;ExcessHet=0;FS=0.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.734;SOR=0.65	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	18	0	1	0
chr19	5866928	5866928	G	-	exonic	FUT5	.	frameshift deletion	FUT5:NM_002034:exon2:c.798delC:p.D267Tfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.692e-05	0	8.697e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs765697026	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.237e-05	5.5e-07	1.5e-07	.	.	0	2.237e-05	0	0	0	0	8.994e-07	1.656e-05	0	1.979e-05	1.969e-05	3.869e-05	0	0.0002	5.26e-06	2.46e-06	5.298e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2760.29	34	chr19	5866927	.	CG	C	2760.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1382;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.89;MQRankSum=-3.659;QD=13.08;ReadPosRankSum=-1.338;SOR=0.85	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr19	5867062	5867062	A	T	exonic	FUT5	.	nonsynonymous SNV	FUT5:NM_002034:exon2:c.T664A:p.Y222N	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00367108659808	0.0006	.	0.0009	9.681e-05	0.0002	0	0.0005	0.0014	0	0.0002	0.0007115	110	154602	rs201154123	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0008	0.0009	0.0008	0.0002	0.0004	0.0066	0	0.0003	0.0014	0.0009	0.0008	0.0002	0.0006	0.0006	0.0007	0.0006	0.0007	0.0005	0.0005	0.0006	0.0005	0.0002	0	0.0006	0.0069	0	0.0005	0.0034	0.0007	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.023228	0.26481	U	0.266064	0.944168	0.37438	D	.	.	.	1.45	0.32482	T	-7.6	0.95336	D	0.753	0.75192	-0.4991	0.68682	T	0.245	0.61354	T	10	0.08267444	0.13672	T	0.003671	0.08464	T	0.256	0.56694	.	.	0.691195176727	0.68854	0.737854656811637	0.73730	1.83954089297	0.92146	0.510499477386	0.40293	T	.	.	.	-0.259109	0.13004	T	-0.19541	0.55082	T	0.426705241203308	0.29939	T	0.889211	0.62120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.71419	P	.;.	.;.	2.922404	0.38803	20.8	0.98430990883801239	0.41397	0.94467	0.61259	D	AEFBI	0.355247	0.44704	N	0.308102806820374	0.56565	3.82125	0.0253638279280251	0.40896	2.448062	0.0397421657816056	0.14407	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.05	2.05	0.25860	3.420000	0.52493	2.237000	0.31580	0.634000	0.51959	0.380000	0.26006	0.357000	0.24501	0.412000	0.27050	1.0:0.0:0.0:0.0	7.725	0.27922	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2876.33	34	chr19	5867062	.	A	T	2876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=1520;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.99;MQRankSum=-2.669;QD=11.32;ReadPosRankSum=-1.352;SOR=0.88	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr19	5893042	5893042	C	A	exonic	NDUFA11	.	nonsynonymous SNV	NDUFA11:NM_001193375:exon4:c.G562T:p.A188S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00421595193407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.891e-06	2.736e-06	1.427e-06	4.395e-06	0.0004	6.8e-07	4.6e-07	6.169e-05	2.55e-05	0	0	0	0	0	0.0004	9.271e-07	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.744	0.04912	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	0.14	0.05405	N	0.091	0.06990	-1.0724	0.08894	T	0.039	0.16849	T	8	0.09466711	0.16850	T	0.004216	0.10153	T	0.059	0.16972	0.206	0.12216	0.0675242888579	0.06100	0.06436191787874951	0.06375	0.182580710226	0.20522	0.269853830338	0.06122	T	.	.	.	-0.169885	0.25250	T	-0.481804	0.24255	T	0.115448025572349	0.13980	T	0.252075	0.03833	T	.	.	.	.	.	.	.	.	-3.563	0.17324	T	.	.	0.104	0.18991	B	.	.	-0.044328	0.03985	0.902	0.98549074650693513	0.42820	0.03037	0.07925	N	AEFBCI	0.034015	0.04140	N	-0.841926999131923	0.12248	0.5959245	-1.03366313319228	0.09050	0.4481616	0.888775475942852	0.25797	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.645665	0.59343	0	.	.	0.789	0.789	0.17750	-1.780000	0.01872	-0.065000	0.12373	0.520000	0.23804	0.000000	0.06391	0.057000	0.21958	0.005000	0.06747	0.0:1.0:0.0:0.0	4.870	0.12987	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1566.33	35	chr19	5893042	.	C	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=837;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.802;SOR=0.82	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	5914468	5914468	C	T	exonic	CAPS	.	nonsynonymous SNV	CAPS:NM_004058:exon2:c.C62T:p.S21L,CAPS:NM_080590:exon2:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	2333737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00630102347933	.	.	3.359e-05	0	8.664e-05	0	0	3.07e-05	0	6.186e-05	2.59e-05	4	154602	rs781604890	9.453e-05	9.44e-05	9.675e-05	9.228e-05	0.0001	8.145e-05	7.661e-05	9.76e-05	9.166e-05	5.978e-05	0.0001	0	0	0	0	0.0001	4.972e-05	1.16e-05	8.541e-05	8.536e-05	8.992e-05	8.068e-05	0.0001	4.956e-05	3.962e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	9.409e-05	0	0.0001	0	0	.	.	.	0.221	0.38742	T	.	.	.	.	.	.	0.010523	0.29887	N	0.274206	1	0.08975	N	.	.	.	0.86	0.54911	T	.	.	.	0.275	0.34981	-1.0228	0.22802	T	0.110	0.39675	T	10	0.11395633	0.21425	T	0.006301	0.16551	T	0.041	0.10877	.	.	0.576407682716	0.57309	.	.	.	.	0.391568481922	0.23890	T	0.066513	0.32965	T	-0.320373	0.06866	T	-0.472268	0.25272	T	0.582565903663635	0.35717	D	0.823018	0.50110	T	0.05943416	0.12078	0.076257	0.16872	0.05943416	0.12078	0.076257	0.16871	-5.213	0.39074	T	.	.	0.215	0.44397	B	.;.;.	.;.;.	2.399310	0.30823	18.55	0.99353161693949132	0.60697	0.17536	0.19879	N	AEFDBCI	0.104741	0.20949	N	-0.591544871096551	0.19200	1.003019	-0.570358238057712	0.20267	1.091168	0.999995960244611	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.35	0.484	0.16035	2.605000	0.45947	-0.563000	0.08467	0.599000	0.40250	0.308000	0.25396	0.000000	0.08366	0.291000	0.24285	0.0:0.5761:0.1495:0.2743	5.235	0.14762	867	0.32089	EF-hand domain;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2385.33	33	chr19	5914468	.	C	T	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=834;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.232;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	18	0	1	0
chr19	6039981	6039981	G	A	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_000635:exon5:c.C521T:p.T174M,RFX2:NM_134433:exon5:c.C521T:p.T174M	.	420	1101	1	0	0	1	0.000453926	0.9870	0.726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0409893320321	.	.	3.546e-05	0	0	0	0	7.288e-05	0	0	2.59e-05	4	154602	rs754012291	7.758e-05	8.345e-05	8.766e-05	6.723e-05	0.0002	6.58e-05	6.123e-05	7.873e-05	7.348e-05	3.089e-05	0	0	0	0	0.0002	9.397e-05	3.423e-05	4.833e-05	5.912e-05	5.91e-05	3.853e-05	8.067e-05	8.818e-05	3.076e-05	2.209e-05	3.761e-05	2.575e-05	4.824e-05	0	6.541e-05	0	0	0	0	8.818e-05	0	0	0.039	0.78490	D	0.061	0.49120	T	0.958	0.58077	D	0.317	0.51338	B	0.000000	0.84330	D	0.045258	0.999998	0.81001	D	1.78	0.46185	L	-0.26	0.83157	T	-4.11	0.79482	D	0.252	0.48872	-0.6147	0.64209	T	0.243	0.61154	T	10	0.32990584	0.56750	T	0.040989	0.59680	D	0.227	0.52620	0.183	0.09131	0.403154071476	0.39927	0.5617023730769887	0.56097	0.278509113372	0.30333	0.486155122519	0.36905	T	0.241543	0.61010	T	0.0153634	0.53753	T	-0.215708	0.53149	T	0.884796679019928	0.53506	D	0.944805	0.79065	D	0.32595474	0.55137	0.25876147	0.51613	0.32595474	0.55137	0.25876147	0.51612	-11.984	0.84773	D	.	.	0.095	0.71982	B	.;.;.;.	.;.;.;.	4.197724	0.63317	24.6	0.99702667875713658	0.80729	0.93436	0.58212	D	AEFDGBI	0.748476	0.69022	D	0.408223822663427	0.61874	4.394476	0.485755278514795	0.67047	5.031838	0.999999999810584	0.74766	0.615465	0.37627	0	0.732153	0.95553	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	6.862000	0.75281	11.570000	0.93280	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.0:0.0:1.0:0.0	17.934	0.88926	915	0.20917	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1479.33	35	chr19	6039981	.	G	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=731;ExcessHet=0;FS=3.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.219;SOR=1.098	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1157	18	0	1	0
chr19	6392895	6392895	G	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.C21A:p.S7R	.	.	.	.	.	.	.	.	.	.	.	2346482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0228215654832	0.0002	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs151336104	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0002	0.0028	2.519e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.011	0.55530	D	0.177	0.57587	T	0.305	0.32678	B	0.172	0.35394	B	0.002061	0.37317	N	0.314292	1	0.81001	D	2.28	0.64929	M	0.76	0.49919	T	-2.53	0.54864	D	0.359	0.40063	-0.9995	0.30058	T	0.094	0.35524	T	10	0.025895327	0.00770	T	0.022822	0.45741	T	0.076	0.22200	0.656	0.79379	0.622510390952	0.61944	0.30327391471647935	0.30240	0.540760568797	0.51266	0.432539045811	0.29555	T	0.211104	0.57177	T	-0.336962	0.05601	T	-0.354206	0.38722	T	0.10364954121386	0.12754	T	0.555844	0.19272	T	0.42457727	0.62394	0.33755398	0.59544	0.42457727	0.62395	0.33755398	0.59543	-6.778	0.52395	T	.	.	0.661	0.72340	P	.;.	.;.	3.313838	0.45546	22.1	0.99217682802800755	0.55808	0.77647	0.38202	D	ALL	0.401179	0.47577	N	-0.252807234421069	0.30992	1.733413	-0.147428017505242	0.33508	1.917418	0.999999989105673	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	2.86	0.32427	3.281000	0.51389	6.127000	0.53864	-0.263000	0.06870	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.086:0.156:0.758:0.0	8.383	0.31640	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1941.33	36	chr19	6392895	.	G	T	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.278;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1225:.	18	0	1	0
chr19	6392897	6392897	T	C	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.A19G:p.S7G	.	.	.	.	.	.	.	.	.	.	.	2346481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00295828244997	.	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs140541374	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0001	0.0028	7.557e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.219	0.19023	T	0.276	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.002061	0.37317	N	0.314292	0.999348	0.46733	D	1.13	0.28900	L	0.77	0.49642	T	-1.58	0.38151	N	0.174	0.18649	-1.1148	0.02688	T	0.065	0.26878	T	10	0.01716876	0.00365	T	0.002958	0.06309	T	0.081	0.23632	.	.	0.492816438443	0.48917	0.18684741994023205	0.18602	0.226218915231	0.25174	0.372128456831	0.21137	T	0.106817	0.41849	T	-0.499765	0.00573	T	-0.586904	0.13935	T	0.0188766804561544	0.00598	T	0.489851	0.15827	T	0.2635842	0.49423	0.2421069	0.49623	0.2635842	0.49423	0.2421069	0.49622	-3.538	0.16968	T	.	.	0.052	0.00239	B	.;.	.;.	1.464519	0.18873	13.97	0.81667180946445361	0.13800	0.38501	0.26002	N	ALL	0.088555	0.17952	N	-0.869921559787842	0.11562	0.5586754	-0.772120308897472	0.15179	0.7970503	0.999999889310946	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	-2.96	0.05212	0.448000	0.21443	-0.262000	0.10418	-0.211000	0.08354	1.000000	0.71638	0.021000	0.20819	0.645000	0.32557	0.0:0.1636:0.0:0.8364	12.372	0.54589	776	0.48302	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1941.33	36	chr19	6392897	.	T	C	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.176;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.129;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1225:.	18	0	1	0
chr19	6392899	6392899	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon2:c.C17T:p.P6L	.	.	.	.	.	.	.	.	.	.	.	2346480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00748789490328	0.0003	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	0	0.0003558	55	154602	rs150462935	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	5.974e-05	0.0001	0.0028	5.038e-05	1.872e-05	0.0002	0.0004	0.0006	0	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0001	0.0026	0	0	0	0.0007	0	0	0.008	0.58626	D	0.048	0.48594	D	0.053	0.22573	B	0.015	0.17295	B	0.030059	0.25365	N	0.397846	0.648643	0.32943	D	1.735	0.44892	L	0.87	0.46412	T	-2.22	0.49846	N	0.357	0.39861	-1.0641	0.10760	T	0.065	0.26807	T	10	0.022917926	0.00585	T	0.007488	0.19872	T	0.050	0.13987	.	.	0.620024924115	0.61694	0.19396468991086918	0.19314	0.276881313614	0.30156	0.465507954359	0.34065	T	0.118208	0.43885	T	-0.419732	0.01717	T	-0.4731	0.25184	T	0.103630115115818	0.12752	T	0.842916	0.51943	T	0.27469647	0.50535	0.23672417	0.48951	0.27469647	0.50535	0.23672417	0.48950	-3.719	0.19599	T	.	.	0.118	0.24599	B	.;.	.;.	4.145910	0.62150	24.4	0.99677203396109992	0.78977	0.78272	0.38592	D	AEFDGBHCI	0.436039	0.49642	N	-0.157334907083145	0.34923	1.999557	0.0464779074108789	0.41901	2.525222	0.999999997672757	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	5.07	0.68106	2.178000	0.42148	11.535000	0.93106	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:0.0:1.0:0.0	15.469	0.75155	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1944.33	36	chr19	6392899	.	G	A	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=0.006;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1225:.	18	0	1	0
chr19	6427423	6427423	G	A	exonic	SLC25A41	.	stopgain	SLC25A41:NM_173637:exon5:c.C703T:p.R235X,SLC25A41:NM_001321298:exon6:c.C289T:p.R97X	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0020	0	0.0001	0	0	0	0	0.0145	0.0013195	204	154602	rs552989074	0.0006	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	2.993e-05	2.264e-05	0	5.054e-05	0	0.0002	8.11e-06	0.0005	0.0106	0.0004	0.0004	0.0002	0.0005	0.0118	0.0003	0.0003	0.0093	0.0085	0	0	0	0	0.0002	0	0	0	0	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0287981	0.55564	T	0.277985	0.87014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.568144	0.97729	38	0.99681884316337632	0.79307	0.17905	0.20037	N	AEFBI	0.171369	0.29833	N	0.176300804375487	0.50063	3.199985	-0.116859415685605	0.34710	1.999709	0.0592831420296672	0.15157	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	3.02	0.33970	2.054000	0.40961	4.341000	0.43058	0.676000	0.76740	0.021000	0.19753	0.905000	0.28034	0.202000	0.21954	0.0:0.0:0.4946:0.5054	9.895	0.40483	806	0.43582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1886.33	38	chr19	6427423	.	G	A	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=821;ExcessHet=0;FS=7.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.006;SOR=0.922	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr19	6427470	6427470	G	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.C656A:p.T219K,SLC25A41:NM_001321298:exon6:c.C242A:p.T81K	.	420	1073	29	0	0	29	0.0133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	.	0.0047	0.00499201	0.0109	0.0009	0.0027	0.0002	0.0162	0.0115	0.0044	0.0261	0.0064294	994	154602	rs191002996	0.0072	0.0072	0.0068	0.0075	0.0154	0.0070	0.0070	0.0147	0.0144	0.0009	0.0018	0.0013	0	0.0092	0.0044	0.0073	0.0057	0.0154	0.0052	0.0052	0.0055	0.0048	0.0135	0.0049	0.0047	0.0108	0.0099	0.0012	0.0011	0.0024	0.0020	0	0.0073	0.0034	0.0080	0.0033	0.0135	0.051	0.39334	T	0.001	0.83351	D	0.998	0.73220	D	0.976	0.73562	D	.	.	.	.	0.999985	0.81001	D	1.585	0.39878	L	-1.17	0.78199	T	-5.9	0.88839	D	0.444	0.48227	-0.1174	0.79695	T	0.444	0.78087	T	9	0.010553807	0.00234	T	.	.	.	0.504	0.78600	.	.	0.604866229831	0.60170	0.44882623000883026	0.44800	0.219830314724	0.24524	0.533281862736	0.43498	T	0.187264	0.54081	T	-0.376014	0.03301	T	-0.30057	0.44664	T	0.0296929814791083	0.01942	T	0.992151	0.97514	D	0.48133796	0.65981	0.56135523	0.74619	0.48133796	0.65982	0.56135523	0.74620	-9.755	0.72432	D	.	.	0.503	0.64736	A	.	.	3.982697	0.58557	24.0	0.98662720312469565	0.44358	0.96505	0.69474	D	AEFBI	0.848083	0.76492	D	0.298140719010819	0.56056	3.769684	0.179448610205924	0.48721	3.084332	0.997010190582956	0.35200	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.06	4.06	0.46572	6.656000	0.74245	8.498000	0.77350	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	15.173	0.72574	806	0.43582	.	.	.	.	.	rs191002996	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006592	0.000000	0.005435	0.005882	0.000000	0.008772	0.003086	0.015152	0.02632	1811.33	38	chr19	6427470	.	G	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.94;DP=824;ExcessHet=0;FS=5.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.677;SOR=0.863	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr19	6677923	6677923	C	T	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon41:c.G4951A:p.A1651T	C3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.123481355358	.	.	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs756442896	1.368e-06	2.052e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.07140	T	0.422	0.92824	T	0.0	0.02946	B	0.0	0.01387	B	0.120423	0.02720	N	1.773400	1	0.08975	N	0.65	0.16133	N	0.34	0.79277	T	-0.08	0.08187	N	0.03	0.00717	-1.0290	0.20778	T	0.071	0.28936	T	10	0.047243416	0.04017	T	0.123481	0.80466	D	0.054	0.15330	0.318	0.29581	0.295226631146	0.29124	0.4768595530478563	0.47605	0.562505004797	0.52722	0.358089596033	0.19107	T	0.047653	0.27785	T	-0.529167	0.00388	T	-0.573422	0.15137	T	0.0292851876019788	0.01880	T	0.135486	0.05229	T	0.053113025	0.10005	0.084950775	0.19580	0.053113025	0.10004	0.084950775	0.19580	-3.618	0.18118	T	0.044409445059648466	0.00531	0.072	0.04396	B	.;.	.;.	-0.481944	0.01925	0.162	0.77090045558918197	0.11732	0.02040	0.06108	N	AEFDGBHCI	0.424610	0.48971	N	-1.95794113772841	0.00260	0.01115742	-1.96750525056822	0.00358	0.01581394	0.9999999999531	0.74766	0.741868	0.97996	0	0.607795	0.50457	0	0.774882	0.98623	0	0.505526	0.08623	0	.	.	5.08	-5.59	0.02305	-1.250000	0.02995	-3.359000	0.02847	-2.229000	0.00345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1028:0.6605:0.0:0.2366	11.878	0.51835	929	0.16858	Netrin domain|Complement C3-like, NTR domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	33	chr19	6677923	.	C	T	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.304;DP=1477;ExcessHet=0;FS=86.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=0.079;SOR=6.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	18	0	1	0
chr19	6718099	6718099	T	A	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon4:c.A499T:p.I167F	C3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1967570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.289071917161	.	.	1.648e-05	0	0	0	0.0002	0	0	6.057e-05	1.29e-05	2	154602	rs779750426	3.283e-05	3.283e-05	2.178e-05	4.4e-05	0.0002	2.543e-05	2.249e-05	0.0002	0.0001	0	0	0	0	0.0002	0	1.439e-05	3.311e-05	0.0002	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	9.418e-05	0	2.94e-05	0.0005	0.0002	0.477	0.08310	T	0.592	0.08161	T	0.005	0.12996	B	0.044	0.24394	B	0.000000	0.84330	D	0.000000	0.984919	0.40210	D	1.525	0.38595	L	-1.05	0.76690	T	-1.81	0.42575	N	0.485	0.51940	-0.5760	0.65776	T	0.337	0.70363	T	10	0.3123721	0.48698	T	0.289072	0.90499	D	0.455	0.75415	.	.	0.879540540865	0.87836	0.9165104319855081	0.91626	0.944348631935	0.72353	0.425659716129	0.28614	T	0.156367	0.49851	T	-0.0890948	0.38225	T	-0.184227	0.56129	T	0.0842874348163605	0.10527	T	0.682432	0.29103	T	0.52624434	0.68616	0.22701885	0.47698	0.52624434	0.68617	0.22701885	0.47697	-2.644	0.06845	T	0.1952634796528117	0.25753	0.145	0.31956	B	.	.	1.757482	0.22356	15.59	0.50160754936777685	0.04335	0.15278	0.18833	N	AEFDBCI	0.404317	0.47765	N	-0.497750201984092	0.22155	1.180963	-0.448325008436663	0.23596	1.287636	0.999996774239227	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	-0.057000	0.11726	1.374000	0.25980	-0.211000	0.08354	0.000000	0.06391	1.000000	0.68203	0.389000	0.26536	0.1851:0.0:0.0:0.8149	7.846	0.28586	923	0.18507	Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1106.81	46	chr19	6718099	.	T	A	1106.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.38;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	18	1	0	0
chr19	6732327	6732327	G	T	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon12:c.C1061A:p.A354D,GPR108:NM_020171:exon12:c.C335A:p.A112D	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0484465803341	.	0.000399361	7.504e-05	0	0	0	0	4.535e-05	0	0.0004	7.12e-05	11	154602	rs568270257	4.312e-05	4.309e-05	3.268e-05	5.366e-05	0.0007	3.444e-05	3.13e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0.0007	1.259e-05	4.967e-05	0.0005	2.626e-05	2.624e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.008	0.59928	D	0.057	0.46406	T	0.738	0.42905	P	0.464	0.46572	P	0.000522	0.43581	N	0.087702	0.999984	0.54805	D	2.645	0.77386	M	1.86	0.24285	T	-4.17	0.78046	D	0.963	0.97317	-1.0412	0.16951	T	0.076	0.30553	T	10	0.72752273	0.74074	D	0.048447	0.63376	D	0.444	0.74657	0.868	0.96212	0.3349148499	0.33108	0.9663964036888415	0.96627	0.586748521879	0.54263	0.589259147644	0.51390	T	0.140245	0.47468	T	0.0203139	0.54423	T	0.107559	0.77412	D	0.374912202358246	0.27987	T	0.910809	0.79866	D	0.4927292	0.66665	0.6568227	0.79905	0.4927292	0.66666	0.6568227	0.79905	-12.965	0.89219	D	.	.	0.708	0.74017	P	.;.;.	.;.;.	5.013793	0.83284	28.0	0.99647565146145534	0.77068	0.97430	0.74700	D	AEFDGBI	0.818803	0.73997	D	0.173985029022567	0.49953	3.190114	0.178805078511809	0.48685	3.081291	0.999999999999568	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.8	3.8	0.42887	7.547000	0.81094	11.759000	0.95586	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	13.540	0.61128	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2258.33	37	chr19	6732327	.	G	T	2258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=1087;ExcessHet=0;FS=4.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.678;SOR=0.757	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	18	0	1	0
chr19	6733571	6733571	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon8:c.C722T:p.T241M	.	420	1077	25	0	0	25	0.0114732	0.9175	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0045	0.00419329	0.0059	0.0013	0.0022	0.0001	0.0053	0.0069	0.0022	0.0109	0.0057244	885	154602	rs201134279	0.0056	0.0056	0.0054	0.0057	0.0113	0.0055	0.0054	0.0107	0.0105	0.0007	0.0021	0.0069	2.519e-05	0.0049	0.0068	0.0057	0.0049	0.0113	0.0040	0.0040	0.0040	0.0040	0.0114	0.0038	0.0036	0.0090	0.0081	0.0010	0.0044	0.0014	0.0086	0	0.0060	0.0034	0.0057	0.0038	0.0114	0.087	0.32453	T	0.109	0.37449	T	1.0	0.90584	D	0.99	0.78936	D	0.014764	0.28435	U	0.198041	0.99809	0.81001	D	1.955	0.52871	M	1.74	0.26301	T	-3.06	0.63090	D	0.535	0.56317	-0.9818	0.34585	T	0.105	0.38415	T	10	0.012068361	0.00261	T	.	.	.	0.114	0.32008	.	.	0.774742464895	0.77267	0.4633210011883577	0.46251	0.501832108844	0.48557	0.514700114727	0.40881	T	0.127938	0.45528	T	-0.446055	0.01191	T	-0.403116	0.33023	T	0.0156661325516589	0.00360	T	0.824018	0.48536	T	0.03573776	0.04264	0.09458533	0.22395	0.03573776	0.04264	0.09458533	0.22394	-7.93	0.60592	D	.	.	0.102	0.17869	B	.	.	4.668783	0.74591	26.2	0.99894039365907117	0.96742	0.58790	0.30737	D	AEFDBHCIJ	0.476816	0.52007	N	0.500662929026646	0.67128	5.040679	0.421324519677696	0.62895	4.512993	0.999999999999535	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.691587	0.68394	0	.	.	3.92	3.92	0.44525	1.856000	0.39028	5.580000	0.48966	0.662000	0.56354	0.654000	0.28207	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	11.595	0.50224	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.001359	0.005848	0.050000	0.000000	0.006135	0.003788	0.02632	2089.33	39	chr19	6733571	.	G	A	2089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=1240;ExcessHet=0;FS=5.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.476;SOR=1.117	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	18	0	1	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.001359	0.000000	0.050000	0.017241	0.003049	0.003788	0.02632	1659.33	39	chr19	6734221	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=844;ExcessHet=0;FS=3.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.135;SOR=0.418	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.002717	0.000000	0.000000	0.017241	0.003067	0.000000	0.02632	897.33	39	chr19	6734281	.	T	C	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.96;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.726;SOR=0.602	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr19	6751226	6751226	G	A	exonic	TRIP10	.	nonsynonymous SNV	TRIP10:NM_001288963:exon14:c.G1682A:p.R561Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0055303097375	7.7e-05	0.000199681	0.0001	0	0	0.0001	0	3.069e-05	0	0.0007	0.00011	17	154602	rs374069312	0.0001	0.0001	9.804e-05	0.0001	0.0010	0.0001	9.97e-05	0.0008	0.0007	5.975e-05	0	0	5.04e-05	0	0	7.555e-05	8.281e-05	0.0010	9.195e-05	9.186e-05	7.711e-05	0.0001	0.0004	5.525e-05	4.363e-05	9.05e-05	7.014e-05	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	1.18	0.37746	T	.	.	.	0.187	0.20395	-1.0259	0.21788	T	0.068	0.28013	T	7	0.016540766	0.00349	T	0.00553	0.14258	T	.	.	.	.	0.390842690916	0.38694	.	.	.	.	.	.	.	0.005259	0.04708	T	-0.356111	0.04355	T	-0.35711	0.38388	T	0.0151379757110794	0.00330	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04477	B	.	.	0.515057	0.08836	5.617	0.7651414408448457	0.11498	0.12386	0.17237	N	AEFBCI	0.089745	0.18189	N	-0.849333605898521	0.12066	0.5859277	-0.905055764684157	0.11975	0.6133007	0.997192389857542	0.35363	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.61	2.41	0.28644	0.387000	0.20445	0.112000	0.14796	0.618000	0.50648	0.051000	0.21449	0.003000	0.18671	0.224000	0.22571	0.1009:0.0:0.7056:0.1935	5.647	0.16875	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1740.33	33	chr19	6751226	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=780;ExcessHet=0;FS=3.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.94;SOR=0.907	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1754,0,1653	18	0	1	0
chr19	6903869	6903869	A	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon4:c.A298T:p.S100C,ADGRE1:NM_001256252:exon6:c.A565T:p.S189C,ADGRE1:NM_001256253:exon7:c.A721T:p.S241C,ADGRE1:NM_001974:exon7:c.A721T:p.S241C	.	431	1067	24	0	0	24	0.0111214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810	0.0720868995087	0.0006	0.000599042	0.0014	0	0.0015	0	0	0.0013	0.0044	0.0040	0.001313	203	154602	rs143245445	0.0014	0.0014	0.0014	0.0015	0.0085	0.0014	0.0014	0.0066	0.0059	0.0004	0.0020	0.0010	0	7.488e-05	0.0085	0.0013	0.0016	0.0042	0.0012	0.0012	0.0010	0.0013	0.0037	0.0010	0.0010	0.0029	0.0026	0.0003	0	0.0037	0.0009	0	0	0.0102	0.0013	0.0009	0.0031	0.002	0.72154	D	0.005	0.74150	D	0.999	0.77913	D	0.939	0.67449	D	.	.	.	.	1	0.81001	D	.	.	.	-3.69	0.95317	D	-3.32	0.72240	D	0.456	0.49328	0.894	0.95590	D	0.925	0.97534	D	9	0.031084388	0.01240	T	0.072087	0.71442	D	0.810	0.93854	.	.	0.897640241601	0.89662	0.8801396426961889	0.87981	0.49416716241	0.47986	0.270196586847	0.06167	T	0.532239	0.83834	D	-0.125525	0.32222	T	0.0463957	0.73345	D	0.100894652445659	0.12455	T	0.966803	0.87909	D	0.7029911	0.78220	0.6367117	0.78787	0.7029911	0.78222	0.6367117	0.78788	-10.464	0.78421	D	.	.	0.411	0.72659	A	.;.;.;.;.	.;.;.;.;.	4.076074	0.60593	24.2	0.9869083316594065	0.44752	0.77892	0.38353	D	AEFBI	0.177539	0.30479	N	0.478812546250502	0.65852	4.875163	0.308242605595077	0.56024	3.765254	2.19506054299225E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.35	2.32	0.27895	1.326000	0.33341	3.236000	0.36937	0.745000	0.86679	0.999000	0.42656	0.998000	0.33993	0.997000	0.79791	0.8621:0.0:0.1379:0.0	5.539	0.16317	976	0.04745	.;.;Complement Clr-like EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.006793	0.008772	0.000000	0.000000	0.015337	0.007576	0.02632	1776.33	34	chr19	6903869	.	A	T	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.613;DP=757;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-1.17;SOR=0.496	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	6924768	6924768	C	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon12:c.C1459T:p.R487C,ADGRE1:NM_001256255:exon12:c.C1351T:p.R451C,ADGRE1:NM_001256252:exon14:c.C1726T:p.R576C,ADGRE1:NM_001974:exon15:c.C1882T:p.R628C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00780276355448	0.0002	.	0.0001	0	8.642e-05	0.0005	0	7.493e-05	0	0.0002	0.00011	17	154602	rs148887520	6.772e-05	6.84e-05	4.628e-05	8.938e-05	0.0006	5.67e-05	5.26e-05	0.0004	0.0004	0.0001	0	0	0.0006	0	0.0002	2.338e-05	1.656e-05	0.0005	4.602e-05	4.597e-05	5.141e-05	4.038e-05	0.0004	2.11e-05	1.528e-05	7.296e-05	3.031e-05	4.829e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.966	0.71341	D	.	.	.	.	0.999996	0.23574	N	.	.	.	0.29	0.58897	T	-6.58	0.91956	D	0.668	0.67908	-0.5187	0.67962	T	0.466	0.79367	T	9	0.6317822	0.68558	D	0.007803	0.20694	T	0.211	0.50185	.	.	0.520694202979	0.51714	0.2851850137103042	0.28431	0.589588781802	0.54453	0.258762776852	0.04744	T	0.500912	0.82132	D	-0.223354	0.17537	T	-0.202232	0.54435	T	0.505847707898363	0.32844	D	0.919408	0.73215	D	0.64611316	0.75156	0.54493326	0.73696	0.64611316	0.75158	0.54493326	0.73696	-10.261	0.76663	D	.	.	0.119	0.29311	B	.;.;.;.	.;.;.;.	4.924440	0.81138	27.5	0.99611992649079761	0.74873	0.73036	0.35732	D	AEFGBI	0.614949	0.60207	D	0.200377853092169	0.51219	3.304816	-0.0613382168864074	0.37003	2.16083	9.22143665043053E-4	0.08013	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	2.54	0.29674	5.498000	0.66648	2.565000	0.33334	0.599000	0.40250	0.967000	0.34061	0.022000	0.20871	0.780000	0.36908	0.2331:0.7669:0.0:0.0	8.475	0.32171	976	0.04745	.;GPCR, family 2-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1527.33	34	chr19	6924768	.	C	T	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.12;DP=855;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.693;SOR=0.619	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	6926385	6926385	C	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon13:c.C1583T:p.A528V,ADGRE1:NM_001256255:exon13:c.C1475T:p.A492V,ADGRE1:NM_001256252:exon15:c.C1850T:p.A617V,ADGRE1:NM_001256253:exon15:c.C1811T:p.A604V,ADGRE1:NM_001974:exon16:c.C2006T:p.A669V	.	429	1084	9	0	0	9	0.00413413	.	.	.	3213495	ADGRE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.381	0.025067683718	0.0012	0.00199681	0.0017	9.612e-05	0.0016	0	0.0020	0.0021	0.0033	0.0019	0.0016041	248	154602	rs117242880	0.0012	0.0012	0.0011	0.0013	0.0042	0.0011	0.0011	0.0029	0.0025	0.0004	0.0017	0.0024	2.519e-05	0.0018	0.0042	0.0011	0.0017	0.0021	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0013	0.0026	0.0021	0.0003	0	0.0023	0.0032	0	0.0024	0	0.0017	0.0024	0.0039	0.498	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	0.998038	0.44438	D	.	.	.	0.84	0.47477	T	-3.82	0.72120	D	0.802	0.79792	-0.6675	0.61941	T	0.213	0.57401	T	9	0.03323117	0.01494	T	0.025068	0.48051	D	0.381	0.69863	.	.	0.566121633045	0.56276	0.5665750608273478	0.56585	0.491820675935	0.47857	0.419273138046	0.27737	T	0.32057	0.69174	T	-0.22568	0.17225	T	-0.103734	0.63107	T	0.0807674871363478	0.10086	T	0.958704	0.84427	D	0.5496803	0.69938	0.50469047	0.71370	0.5496803	0.69939	0.50469047	0.71370	-11.448	0.82058	D	.	.	0.412	0.69513	A	.;.;.;.;.	.;.;.;.;.	4.564328	0.71947	25.8	0.99907946531245362	0.97801	0.74502	0.36447	D	ALL	0.698384	0.65608	D	0.445059093952516	0.63923	4.635737	0.349070788281983	0.58451	4.015698	0.99999999999996	0.74766	0.525926	0.21836	0	0.484254	0.07192	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	4.18	4.18	0.48473	4.424000	0.59617	4.740000	0.44601	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.747000	0.35681	0.0:1.0:0.0:0.0	13.997	0.63921	976	0.04745	.;.;GPCR, family 2-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.010101	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1294.33	33	chr19	6926385	.	C	T	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.032;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.648;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1254:.	18	0	1	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	374.04	10	chr19	7019288	.	G	A	374.04	.	AC=2;AF=0.053;AN=38;DP=190;ExcessHet=0;FS=0;InbreedingCoeff=0.8665;MLEAC=2;MLEAF=0.053;MQ=43.71;QD=35.24;SOR=3.258	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	18	1	0	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011299	0.000000	0.000000	0.016667	0.000000	0.000000	0.046875	0.000000	0.02941	287.07	15	chr19	7032755	.	C	T	287.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.21;DP=63;ExcessHet=0;FS=0;InbreedingCoeff=-0.1212;MLEAC=1;MLEAF=0.029;MQ=33.01;MQRankSum=-1.612;QD=19.14;ReadPosRankSum=1.41;SOR=1.473	GT:AD:DP:GQ:PL	./.:.:.:.:.	16	0	1	2
chr19	7141715	7141715	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon12:c.G2608A:p.V870M,INSR:NM_000208:exon13:c.G2644A:p.V882M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.118642374832	.	0.000199681	1.648e-05	0	0	0.0001	0	0	0	6.059e-05	1.94e-05	3	154602	rs565092654	8.893e-06	8.893e-06	8.167e-06	9.626e-06	5.038e-05	4.96e-06	3.82e-06	9.24e-06	4.56e-06	0	0	0	5.038e-05	0	0	7.194e-06	0	3.478e-05	3.939e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.003e-05	0	0	0	0	0.0006	0	0	0	0	0.0006	0.054	0.38633	T	0.04	0.50809	D	0.977	0.59675	D	0.571	0.56482	P	0.046687	0.23415	U	0.206927	0.999409	0.46935	D	1.89	0.50145	L	-1.15	0.77964	T	-1.1	0.28497	N	0.428	0.47208	-0.0329	0.81569	T	0.489	0.80555	T	10	0.27104798	0.44640	T	0.118642	0.79874	D	0.367	0.68670	0.426	0.47185	0.870855217803	0.86959	0.46534526062825715	0.46453	1.80745962536	0.91753	0.684474825859	0.64912	T	0.570138	0.85752	D	-0.115358	0.33884	T	-0.234352	0.51349	T	0.639685255876841	0.38024	D	0.947805	0.79866	D	0.21843031	0.44351	0.11946312	0.28834	0.21843031	0.44351	0.11946312	0.28833	-10.563	0.77351	D	0.2762500625625828	0.37079	0.752	0.75136	P	.;.	.;.	4.192519	0.63207	24.6	0.99910356019126723	0.98022	0.75397	0.36914	D	AEFBI	0.159985	0.28586	N	0.547491363122131	0.69928	5.427469	0.552027902958785	0.71539	5.670196	0.103998894938437	0.16462	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.62	4.39	0.52211	1.961000	0.40056	3.122000	0.36404	0.599000	0.40250	0.960000	0.33603	0.997000	0.33255	0.626000	0.32052	0.0:0.9067:0.0:0.0933	12.745	0.56652	923	0.18507	.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2149.33	34	chr19	7141715	.	C	T	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.87;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	18	0	1	0
chr19	7382875	7382875	T	C	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon9:c.T806C:p.V269A	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116036520201	.	0.000199681	0.0016	0	0	0	.	0.0027	0	0	0.0001035	16	154602	rs183357795	0.0009	0.0007	0.0009	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	8.706e-05	0.0001	0	0	0.0058	0.0007	0.0008	0.0006	0.0009	0.0012	0.0012	0.0007	0.0017	0.0011	0.0011	0.0010	0.0009	0.0008	0.0001	0	0.0002	0	0	0.0092	0	0.0011	0.0005	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.68863	.	.	.	.	.	.	.	0.03978789	0.02496	T	0.116037	0.79540	D	.	.	.	.	0.381916209588	0.37799	.	.	.	.	.	.	.	.	.	.	-0.327759	0.06283	T	-0.299928	0.44733	T	.	.	.	0.651635	0.26249	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.85593	P	.	.	4.214384	0.63694	24.6	0.9987210807160759	0.94989	0.72551	0.35507	D	AEFDBHCI	0.467919	0.51494	N	.	.	.	.	.	.	0.99998288903117	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	3.900000	0.56008	7.596000	0.61403	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:0.0:0.0:1.0	10.954	0.46556	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1976.33	33	chr19	7382875	.	T	C	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.651;DP=868;ExcessHet=0;FS=2.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.408;SOR=0.931	GT:AD:DP:GQ:PL	0/1:83,89:172:99:1990,0,2133	18	0	1	0
chr19	7506015	7506015	C	A	exonic	TEX45	.	nonsynonymous SNV	TEX45:NM_198534:exon7:c.C1057A:p.Q353K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00410222373573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.02412	T	0.901	0.03039	T	0.02	0.18235	B	0.013	0.16460	B	0.923115	0.07488	N	1.041340	1	0.08975	N	.	.	.	2.56	0.13673	T	-0.8	0.22078	N	0.106	0.09066	-0.9389	0.42790	T	0.022	0.09559	T	10	0.028607756	0.00992	T	0.004102	0.09806	T	0.021	0.04004	0.2	0.11384	0.0297737177859	0.01360	0.20997207151584635	0.20913	0.274500258451	0.29939	.	.	.	0.002819	0.02217	T	-0.365332	0.03837	T	-0.762551	0.03022	T	0.879615306854248	0.52959	D	0.425957	0.11436	T	0.07243003	0.16112	0.044225875	0.05683	0.07243003	0.16112	0.044225875	0.05683	-3.696	0.19259	T	.	.	0.104	0.18705	B	.	.	0.796700	0.11672	8.255	0.65690338387590197	0.07844	0.00851	0.03397	N	ALL	0.045150	0.07351	N	-1.11273318694339	0.06415	0.2952521	-1.16356029768185	0.06527	0.3144966	0.999999997456195	0.74766	0.685219	0.55550	0	0.59043	0.45803	0	0.674405	0.61402	0	0.526803	0.08958	0	.	.	3.71	-0.0726	0.13072	0.328000	0.19425	0.709000	0.20918	0.549000	0.26987	0.001000	0.13787	0.636000	0.25890	0.192000	0.21661	0.3129:0.5295:0.1576:0.0	6.298	0.20305	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	76	chr19	7506015	.	C	A	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=1078;ExcessHet=0;FS=1.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.68;SOR=0.573	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,107,1617	18	0	1	0
chr19	7520449	7520472	GCTGCAGCTGCCGCGGCCGCTGCA	-	exonic	ZNF358	.	nonframeshift deletion	ZNF358:NM_018083:exon2:c.1207_1230del:p.A409_A416del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.785e-05	0	0.0001	0	0	0.0001	0	6.953e-05	3.84e-05	1	26028	rs763184313	9.779e-05	8.425e-05	9.952e-05	9.607e-05	0.0012	8.297e-05	7.722e-05	0.0004	0.0002	0.0001	0.0002	0	0.0003	0	0.0012	9.114e-05	4.443e-05	0.0001	0.0001	0.0001	0.0001	0.0002	0.0005	9.061e-05	7.578e-05	0.0001	9.186e-05	0.0001	0	0	0	0.0005	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1506.3	25	chr19	7520448	.	TGCTGCAGCTGCCGCGGCCGCTGCA	T	1506.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.17;ReadPosRankSum=3.13;SOR=0.603	GT:AD:DP:GQ:PL	0/0:19,0:19:39:0,39,585	18	0	1	0
chr19	7527562	7527562	C	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon5:c.C614A:p.P205H	Mucolipidosis IV, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1807551	Inborn_genetic_diseases|Mucolipidosis_type_IV	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0392949051233	.	.	8.258e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs748095297	4.451e-05	4.652e-05	4.361e-05	4.542e-05	0.0009	3.579e-05	3.261e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.133e-05	4.972e-05	0	5.257e-05	5.253e-05	5.14e-05	5.38e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.015	0.52492	D	0.018	0.59732	D	0.944	0.53183	P	0.667	0.53020	P	0.181852	0.17081	N	0.620823	0.999734	0.48635	D	0.895	0.22405	L	-1.03	0.76430	T	-0.96	0.25551	N	0.357	0.39861	-0.9572	0.39699	T	0.116	0.41097	T	10	0.2601986	0.43466	T	0.039295	0.58727	D	0.208	0.49714	0.347	0.34274	0.745880705821	0.74359	0.5336003601180597	0.53285	1.31083839466	0.83213	0.389782726765	0.23639	T	0.222918	0.58692	T	-0.167264	0.25650	T	-0.280397	0.46763	T	0.262430497310012	0.23421	T	0.686031	0.29438	T	0.11026632	0.26066	0.0516083	0.08339	0.11026632	0.26065	0.0516083	0.08339	-4.817	0.34789	T	.	.	0.085	0.10304	B	.	.	2.840563	0.37476	20.5	0.99301585492182309	0.58650	0.93121	0.57382	D	AEFGBI	0.272766	0.38832	N	-0.317868729998295	0.28469	1.570534	-0.266455927605413	0.29211	1.634751	0.999958825085499	0.48110	0.732398	0.92422	0	0.633656	0.55848	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.51	4.51	0.54589	3.141000	0.50288	5.865000	0.50473	0.549000	0.26987	0.695000	0.28578	1.000000	0.68203	0.061000	0.16044	0.0:1.0:0.0:0.0	12.910	0.57566	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1592.33	36	chr19	7527562	.	C	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.835;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.002;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr19	7610885	7610885	C	T	exonic	CAMSAP3	.	nonsynonymous SNV	CAMSAP3:NM_020902:exon8:c.C1003T:p.P335S,CAMSAP3:NM_001080429:exon10:c.C1084T:p.P362S	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0002	0.0159744	0.0076	0.0013	0.0002	0.0602	0	9.46e-05	0.0074	0.0262	0.0067011	1036	154602	rs3745358	0.0031	0.0031	0.0026	0.0035	0.0558	0.0030	0.0030	0.0539	0.0531	0.0005	9.213e-05	4.008e-05	0.0558	0	0.0013	5.98e-05	0.0062	0.0211	0.0030	0.0031	0.0025	0.0036	0.0550	0.0028	0.0027	0.0497	0.0477	0.0011	0	0.0006	0	0.0550	0	0	4.41e-05	0.0038	0.0232	0.35	0.12305	T	0.783	0.04330	T	0.272	0.90584	B	0.046	0.88582	B	0.313675	0.14389	N	0.697893	0.784986	0.29291	N	1.905	0.50856	L	2.43	0.15261	T	-1.84	0.44471	N	0.27	0.30574	-1.1510	0.00995	T	0.011	0.04321	T	10	0.0021303594	0.00031	T	.	.	.	0.064	0.18567	.	.	0.464507588428	0.46075	0.36517814361663115	0.36431	1.63092040909	0.89220	0.393068999052	0.24102	T	0.021074	0.16473	T	-0.590378	0.00167	T	-0.577557	0.14764	T	0.020275108852276	0.00727	T	0.827217	0.49094	T	0.08112723	0.18626	0.10154524	0.24314	0.08112723	0.18626	0.10154524	0.24313	-5.224	0.39185	T	.	.	0.081	0.09675	B	.;.	.;.	2.809671	0.36980	20.4	0.9947158466317868	0.66365	0.97265	0.73672	D	AEFBI	0.488447	0.52677	N	0.180999492937922	0.50288	3.220185	0.229352617458701	0.51484	3.330418	0.626839153823507	0.21933	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.31	5.31	0.75063	0.832000	0.27143	7.427000	0.58761	0.585000	0.30472	0.095000	0.22689	1.000000	0.68203	0.122000	0.19250	0.0:1.0:0.0:0.0	14.482	0.67169	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	984.33	33	chr19	7610885	.	C	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.348;DP=738;ExcessHet=0;FS=2.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.804;SOR=0.441	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1394	18	0	1	0
chr19	7624312	7624312	C	T	exonic	XAB2	.	nonsynonymous SNV	XAB2:NM_020196:exon7:c.G956A:p.R319H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0117858067014	.	.	3.31e-05	0	0	0	0	3.016e-05	0	0.0001	2.59e-05	4	154602	rs772031695	1.916e-05	2.052e-05	1.226e-05	2.613e-05	0.0003	1.329e-05	1.144e-05	6.094e-05	3.272e-05	0	0	0	0	0	0.0003	1.439e-05	3.312e-05	9.275e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	9.406e-05	0	1.47e-05	0	0	0.123	0.27544	T	0.118	0.36233	T	0.015	0.17086	B	0.007	0.12992	B	0.010042	0.30087	N	0.319681	0.691766	0.30184	N	1.1	0.28011	L	1.2	0.37405	T	-0.48	0.15379	N	0.269	0.30461	-0.9800	0.35002	T	0.082	0.32382	T	10	0.081361115	0.13310	T	0.011786	0.29763	T	0.046	0.12618	0.326	0.30873	0.102598925029	0.09809	0.13599216020516416	0.13523	0.858288732314	0.68850	0.451991021633	0.32216	T	0.100529	0.40642	T	-0.331945	0.05965	T	-0.511938	0.21116	T	0.178734725644293	0.19155	T	0.960104	0.84924	D	0.07137568	0.15798	0.041130316	0.04604	0.07137568	0.15798	0.041130316	0.04604	-3.563	0.17324	T	.	.	0.085	0.10111	B	.	.	3.474152	0.48478	22.6	0.99689917267605965	0.79842	0.69685	0.34286	D	AEFBCI	0.286457	0.39884	N	-0.156638507299328	0.34953	2.001615	-0.0270795281417147	0.38496	2.268864	0.999847371796628	0.43971	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.94	3.94	0.44807	1.940000	0.39851	4.774000	0.44793	0.549000	0.26987	0.007000	0.17678	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	14.909	0.70381	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1398.33	35	chr19	7624312	.	C	T	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.369;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr19	7632457	7632457	C	G	exonic	PCP2	.	nonsynonymous SNV	PCP2:NM_001271830:exon3:c.G179C:p.R60P,PCP2:NM_174895:exon3:c.G227C:p.R76P	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.021758965142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.65728	D	0.979	0.59044	D	0.811	0.58656	P	0.001116	0.40219	N	0.094449	0.619422	0.30793	N	2.705	0.79137	M	.	.	.	-5.66	0.87063	D	0.752	0.75374	-0.6802	0.61363	T	0.199	0.55414	T	9	0.75906444	0.76205	D	0.021759	0.44572	T	0.280	0.59740	0.504	0.59770	0.347438807231	0.34349	0.7720059960185736	0.77150	0.6558677936	0.58620	0.475859940052	0.35488	T	0.730482	0.92453	D	0.221112	0.75881	D	0.0798357	0.75566	D	0.975552380084991	0.70985	D	0.966503	0.87759	D	0.78189725	0.82770	0.7860591	0.87401	0.78189725	0.82772	0.7860591	0.87402	-12.786	0.89018	D	.	.	0.708	0.77144	P	.;.	.;.	4.613872	0.73190	26.0	0.99707940630585123	0.81143	0.65358	0.32711	D	AEFBCI	0.615200	0.60223	D	0.370835432518029	0.59848	4.167737	0.289104563007866	0.54903	3.654036	0.999858668042904	0.44174	0.631515	0.41029	0	0.697927	0.68747	0	0.536957	0.11973	0	0.733575	0.97253	0	.	.	4.9	1.25	0.20475	0.794000	0.26619	1.626000	0.27713	0.589000	0.31548	0.955000	0.33325	1.000000	0.68203	0.987000	0.62547	0.1577:0.6615:0.0:0.1807	5.502	0.16125	867	0.32089	.;GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	903.33	33	chr19	7632457	.	C	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.396;DP=684;ExcessHet=0;FS=1.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.197;SOR=0.998	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr19	7689276	7689276	C	T	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon10:c.G880A:p.G294S,FCER2:NM_001220500:exon11:c.G883A:p.G295S,FCER2:NM_002002:exon11:c.G883A:p.G295S	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00206618750128	0.0002	0.000399361	0.0010	0	0.0003	0	0	0.0003	0	0.0058	0.0008021	124	154602	rs145322667	0.0005	0.0005	0.0003	0.0006	0.0057	0.0004	0.0004	0.0052	0.0051	0	0.0003	0.0026	0	0	0.0011	4.947e-05	0.0007	0.0057	0.0003	0.0003	0.0002	0.0004	0.0058	0.0003	0.0002	0.0041	0.0036	0	0	0.0002	0.0032	0	0	0	0.0001	0.0005	0.0058	0.208	0.19782	T	0.083	0.41405	T	0.011	0.15914	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.22	0.02640	T	-0.25	0.11008	N	0.071	0.04426	-0.9153	0.46181	T	0.006	0.01944	T	9	0.0056749284	0.00126	T	0.002066	0.03775	T	0.019	0.03383	.	.	0.268660756437	0.26461	0.2542666314091462	0.25340	0.0742822433672	0.08328	0.369940340519	0.20823	T	0.020736	0.16275	T	-0.650377	0.00072	T	-0.70494	0.05559	T	0.0113932384295459	0.00170	T	0.610839	0.23175	T	0.061835486	0.12850	0.048485443	0.07212	0.061835486	0.12849	0.048485443	0.07211	-3.15	0.11879	T	.	.	0.083	0.10691	B	.;.;.	.;.;.	1.340693	0.17474	13.18	0.82768756889159711	0.14365	0.09866	0.15523	N	AEFBCI	0.075125	0.15077	N	-1.02373545706851	0.08113	0.3792808	-1.05925599340218	0.08514	0.4190344	0.114925523176531	0.16743	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	2.67	1.59	0.22622	1.368000	0.33820	-2.947000	0.03203	0.548000	0.25860	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.8332:0.0:0.1668	5.979	0.18631	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	754.33	39	chr19	7689276	.	C	T	754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=724;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-1.208;SOR=0.602	GT:AD:DP:GQ:PL	0/1:65,35:100:99:768,0,1669	18	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.02632	295.33	25	chr19	7730841	.	T	A	295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=554;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.256;SOR=0.425	GT:AD:DP:GQ:PL	0/0:32,0:32:84:0,84,1260	18	0	1	0
chr19	7745992	7745992	A	G	exonic	CD209	.	nonsynonymous SNV	CD209:NM_001144893:exon2:c.T142C:p.S48P,CD209:NM_001144894:exon2:c.T142C:p.S48P,CD209:NM_001144896:exon3:c.T202C:p.S68P,CD209:NM_001144895:exon4:c.T274C:p.S92P,CD209:NM_001144897:exon4:c.T274C:p.S92P,CD209:NM_021155:exon4:c.T274C:p.S92P	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00127886162933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268703072	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.73e-06	5.314e-05	1.315e-05	0	1.495e-05	0	0	.	.	0	0	0	0	0	0	0	1.495e-05	0	0	0.076	0.34269	T	0.129	0.34959	T	0.004	0.59675	B	0.005	0.70163	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	4.02	0.03178	T	-1.33	0.39692	N	0.095	0.17002	-0.9385	0.42853	T	0.011	0.03903	T	8	0.044313222	0.03374	T	0.001279	0.01759	T	0.015	0.02232	0.221	0.14371	0.0551355673512	0.04727	0.02667073426301954	0.02617	0.0671397195829	0.07503	0.419848144054	0.27815	T	0.084818	0.37364	T	-0.292944	0.09343	T	-0.65857	0.08363	T	0.0468849296981804	0.04944	T	0.444656	0.21082	T	0.12752323	0.29840	0.24334762	0.49777	0.12752323	0.29839	0.24334762	0.49776	0.509	0.00321	T	.	.	0.059	0.01197	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.034697	0.04048	0.937	0.60569321685566047	0.06495	0.00120	0.00751	N	AEFBI	0.085689	0.17372	N	-1.44075456600281	0.02290	0.1009745	-1.55098494452191	0.01969	0.08992783	1.0329911135446E-4	0.05123	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.354	-0.708	0.10675	-0.166000	0.09943	-1.458000	0.05393	-0.529000	0.04963	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	8694.33	34	chr19	7745992	.	A	G	8694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=1064;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.18;MQRankSum=-2.149;QD=20.8;ReadPosRankSum=0.585;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr19	7745995	7745995	G	A	exonic	CD209	.	nonsynonymous SNV	CD209:NM_001144893:exon2:c.C139T:p.L47F,CD209:NM_001144894:exon2:c.C139T:p.L47F,CD209:NM_001144896:exon3:c.C199T:p.L67F,CD209:NM_001144895:exon4:c.C271T:p.L91F,CD209:NM_001144897:exon4:c.C271T:p.L91F,CD209:NM_021155:exon4:c.C271T:p.L91F	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00164214037795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.53172	D	0.062	0.49120	T	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	1	0.08975	N	1.74	0.45129	L	3.6	0.14038	T	-1.17	0.36385	N	0.11	0.36989	-0.7184	0.59541	T	0.353	0.71642	T	8	0.10297099	0.18902	T	0.001642	0.02676	T	0.049	0.13647	0.323	0.30387	0.149567049428	0.14543	0.0604076617298518	0.05980	0.338652916292	0.35826	0.409723103046	0.26419	T	0.103127	0.41150	T	-0.307987	0.07926	T	-0.680179	0.06973	T	0.223416342626444	0.21633	T	0.70223	0.50110	T	0.09942723	0.23464	0.10950843	0.26394	0.09942723	0.23464	0.10950843	0.26394	-8.829	0.67981	D	.	.	0.122	0.40984	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.086044	0.14694	11.25	0.98998213485448783	0.50086	0.00084	0.00566	N	AEFBI	0.067891	0.13367	N	-0.672588854485142	0.16805	0.8594393	-0.993960005359008	0.09920	0.4964244	1.00622107601262E-4	0.04910	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.354	-0.708	0.10675	0.832000	0.27143	-1.487000	0.05328	-0.281000	0.06419	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	8730.33	34	chr19	7745995	.	G	A	8730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=1067;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-2.126;QD=20.89;ReadPosRankSum=0.302;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr19	7850048	7850048	C	T	exonic	EVI5L	.	nonsynonymous SNV	EVI5L:NM_001159944:exon6:c.C679T:p.R227W,EVI5L:NM_145245:exon6:c.C679T:p.R227W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0381608933378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.378e-06	4.104e-06	1.369e-06	1.387e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	2.74	0.11730	T	-7.19	0.94196	D	0.868	0.86511	-0.8794	0.49809	T	0.123	0.42568	T	10	0.8449975	0.83663	D	0.038161	0.58054	D	0.465	0.76089	0.704	0.84054	0.752610168554	0.75037	0.7970850328052206	0.79661	2.17757054016	0.95547	0.907796859741	0.97257	D	0.385923	0.74720	T	0.22978	0.76701	D	0.0922869	0.76398	D	0.994768381118774	0.86260	D	0.997164	0.98892	D	0.69529104	0.77799	0.6027908	0.76918	0.69529104	0.77801	0.6027908	0.76919	-12.887	0.88892	D	.	.	0.953	0.88816	P	.;.;.	.;.;.	5.938241	0.94122	33	0.99916085268159271	0.98379	0.90394	0.51535	D	AEFDBI	0.725478	0.67445	D	0.559875896586434	0.70687	5.538055	0.409624121824601	0.62163	4.427286	0.302275418444826	0.19201	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.13	4.13	0.47661	2.525000	0.45258	3.946000	0.40638	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.2159:0.7841:0.0:0.0	9.220	0.36532	952	0.10565	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	35	chr19	7850048	.	C	T	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.334;DP=730;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.021;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	18	0	1	0
chr19	7870294	7870294	C	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.G2950A:p.A984T	.	340	1178	4	0	0	4	0.00169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00319489	0.0133	0	0	0	0	0.02	.	0	0.0004722	73	154602	rs138896713	0.0082	0.0071	0.0082	0.0082	0.0093	0.0081	0.0080	0.0092	0.0091	0.0010	0.0048	0.0074	0	0.0008	0.0007	0.0093	0.0069	0	0.0043	0.0053	0.0048	0.0039	0.0066	0.0040	0.0039	0.0060	0.0058	0.0014	0	0.0042	0.0060	0	0.0002	0.0063	0.0066	0.0053	0	.	.	.	0.341	0.17964	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0388	0.17678	T	0.061	0.25310	T	8	0.003385067	0.00059	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1120410950803723	0.11133	.	.	0.549222052097	0.45748	T	0.020862	0.16347	T	-0.524545	0.00414	T	-0.515861	0.20715	T	0.0226574434323909	0.00983	T	0.349965	0.07784	T	0.06791743	0.14750	0.06589508	0.13421	0.06791743	0.14750	0.06589508	0.13420	-6.932	0.53536	T	.	.	0.143	0.31583	B	.	.	0.500233	0.08693	5.466	0.37704475013879407	0.02500	0.01741	0.05494	N	ALL	0.030969	0.03219	N	-0.907647495592968	0.10662	0.5105892	-1.038936131596	0.08939	0.4420422	0.999896565493851	0.45129	0.839682	0.99964	0	0.607795	0.50457	0	0.736553	0.94036	0	0.562822	0.20929	0	.	.	3.03	0.722	0.17379	-0.575000	0.05953	-2.220000	0.04039	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6997:0.0:0.3003	5.553	0.16388	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003289	0.000000	0.000000	0.008850	0.000000	0.000000	0.004673	0.000000	0.02632	509.33	50	chr19	7870294	.	C	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.426;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	18	0	1	0
chr19	7870949	7870954	CGGGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2290_2295del:p.A764_P765del	.	430	1040	39	2	11	54	0.0202544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0	0	0	0	0.0072	0	0.05	0.0002689	7	26028	rs765354740	0.0024	0.0023	0.0019	0.0030	0.0194	0.0024	0.0023	0.0184	0.0180	0.0002	0.0014	0.0156	6.244e-05	0.0078	0.0037	0.0013	0.0039	0.0194	0.0033	0.0033	0.0033	0.0033	0.0150	0.0031	0.0030	0.0119	0.0108	0.0004	0.0025	0.0007	0.0207	0	0.0067	0.0043	0.0038	0.0027	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3971.79	52	chr19	7870948	.	GCGGGGC	G	3971.79	.	AC=2;AF=0.053;AN=38;DP=1149;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.4;QD=26.3;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,65:78:99:0|1:7870948_GCGGGGC_G:1974,0,160:7870948	17	0	2	0
chr19	7870956	7871018	AGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2226_2288del:p.P743_L763del	.	429	1041	39	2	11	54	0.0202353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	0	0	0	0.1429	0.0118	0	0.0588	0.0002689	7	26028	.	0.0025	0.0021	0.0019	0.0030	0.0190	0.0024	0.0024	0.0181	0.0177	0.0002	0.0012	0.0159	0	0.0078	0.0037	0.0013	0.0039	0.0190	0.0032	0.0032	0.0032	0.0033	0.0146	0.0030	0.0029	0.0116	0.0105	0.0004	0.0024	0.0006	0.0202	0	0.0059	0.0040	0.0038	0.0026	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3127.02	52	chr19	7870955	.	TAGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	T	3127.02	.	AC=2;AF=0.053;AN=38;DP=1165;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.46;QD=30.96;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,53:72:99:0|1:7870948_GCGGGGC_G:1927,0,633:7870948	17	0	2	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:73,20:93:83:83,0,1839	6	0	10	3
chr19	7872929	7872929	A	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.T407A:p.I136N	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00279553	0.0024	0.0072	0	0	0	0.0070	0	0	0.0012354	191	154602	rs147331962	0.0074	0.0071	0.0075	0.0074	0.0088	0.0073	0.0073	0.0087	0.0086	0.0009	0.0039	0.0077	0	0.0009	0.0007	0.0088	0.0063	3.786e-05	0.0046	0.0046	0.0052	0.0041	0.0075	0.0043	0.0042	0.0070	0.0068	0.0016	0	0.0048	0.0081	0	0.0003	0.0136	0.0075	0.0090	0	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.364	0.40565	-1.0195	0.23877	T	0.031	0.13418	T	6	0.005706668	0.00127	T	.	.	.	.	.	.	.	0.252681307341	0.24864	0.036222337537804586	0.03569	.	.	0.429368138313	0.29121	T	0.008611	0.07893	T	-0.581699	0.00188	T	-0.602373	0.12613	T	0.00177726721740528	0.00018	T	0.485551	0.14815	T	0.065106794	0.13880	0.09458222	0.22395	0.065106794	0.13880	0.09458222	0.22394	-2.89	0.09044	T	.	.	0.360	0.57199	A	.	.	1.697124	0.21620	15.28	0.53742489929016324	0.04999	0.03726	0.09019	N	AEFDBCI	0.074310	0.14891	N	-0.974746795697728	0.09145	0.4316298	-1.09056517935586	0.07885	0.3853692	0.99932338971388	0.39149	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	2.8	-0.959	0.09816	0.738000	0.25826	2.043000	0.30309	-0.267000	0.06790	0.001000	0.13787	0.067000	0.22148	0.072000	0.16771	0.4252:0.0:0.5748:0.0	5.347	0.15320	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005764	0.000000	0.009259	0.012346	0.000000	0.000000	0.006173	0.000000	0.02632	914.33	35	chr19	7872929	.	A	T	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.342;DP=745;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.098;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	18	0	1	0
chr19	7873605	7873605	G	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon2:c.C85A:p.P29T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.592809743175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	2.052e-06	2.855e-06	0	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.729e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.971281	0.25661	N	.	.	.	.	.	.	.	.	.	0.252	0.28498	-0.5860	0.65380	T	0.258	0.62878	T	5	0.26254094	0.43723	T	0.59281	0.96389	D	.	.	.	.	0.0954503805726	0.09146	0.15439885537364906	0.15360	.	.	0.765998363495	0.76824	T	0.022591	0.17389	T	-0.22546	0.17253	T	-0.561634	0.16224	T	0.490972459316254	0.32300	T	0.408059	0.10511	T	0.16775382	0.37192	0.29735035	0.55768	0.16775382	0.37191	0.29735035	0.55767	-3.923	0.22647	T	.	.	0.151	0.33435	B	.	.	1.834796	0.23309	15.97	0.97368237874175134	0.33607	0.29406	0.23813	N	AEFDBI	0.113977	0.22467	N	-0.112128984772	0.36865	2.136681	-0.155983910978178	0.33180	1.895244	0.999970033433398	0.50053	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	3.18	3.18	0.35615	-0.093000	0.11077	2.216000	0.31409	0.514000	0.23422	0.000000	0.06391	0.990000	0.31317	0.123000	0.19290	0.0:0.0:1.0:0.0	10.004	0.41116	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	36	chr19	7873605	.	G	T	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=701;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.91;SOR=0.963	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	18	0	1	0
chr19	7899489	7899489	T	C	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.T580C:p.Y194H,LRRC8E:NM_025061:exon3:c.T967C:p.Y323H,LRRC8E:NM_001268284:exon4:c.T967C:p.Y323H	.	387	1132	2	0	1	3	0.000882613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.0638574928044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.41	0.69639	M	-0.15	0.65192	T	-2.92	0.61129	D	0.903	0.94432	-0.1751	0.78303	T	0.402	0.75288	T	10	0.8058739	0.79927	D	0.063857	0.69096	D	0.602	0.84291	0.606	0.73825	0.971442762398	0.97114	0.8244021381128445	0.82398	1.04668247104	0.75978	0.795224189758	0.81237	T	0.076199	0.35361	T	0.339798	0.85820	D	0.25032	0.85634	D	0.989822149276733	0.80044	D	0.957904	0.84151	D	0.65110767	0.75424	0.5503187	0.74000	0.65110767	0.75425	0.5503187	0.74000	-9.388	0.70160	D	.	.	0.63	0.70109	P	.;.	.;.	4.068718	0.60437	24.2	0.99810090203010204	0.89442	0.96069	0.67392	D	AEFBCI	.	.	.	0.70701620151277	0.80093	7.218457	0.64933105624307	0.78560	6.901045	0.999421549500569	0.39630	0.615465	0.37627	0	0.851559	0.99867	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	5.13	0.69729	8.012000	0.88211	7.814000	0.69527	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:0.0:1.0	12.956	0.57826	878	0.29785	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3344.33	35	chr19	7899489	.	T	C	3344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=1735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.008;SOR=0.691	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr19	7921711	7921711	A	G	exonic	SNAPC2	.	nonsynonymous SNV	SNAPC2:NM_003083:exon3:c.A310G:p.T104A	.	428	1093	1	0	0	1	0.000457247	.	.	.	2333571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00977916385424	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267908308	3.421e-06	4.788e-06	5.446e-06	1.376e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	1.0	0.01155	T	0.164	0.28467	B	0.098	0.30479	B	0.595419	0.11009	N	0.806538	0.998018	0.22395	N	1.355	0.33814	L	0.95	0.43279	T	-1.81	0.42575	N	0.255	0.28849	-0.9929	0.31853	T	0.060	0.25127	T	10	0.09562802	0.17093	T	0.009779	0.25518	T	0.024	0.04979	0.245	0.17984	0.345405024496	0.34151	0.32366662716215916	0.32279	0.106859039483	0.12070	0.28206974268	0.07783	T	0.004534	0.03938	T	-0.239628	0.15396	T	-0.581985	0.14369	T	0.102313838899136	0.12610	T	0.555444	0.19245	T	0.05400975	0.10303	0.05599434	0.09925	0.05400975	0.10303	0.05599434	0.09924	-2.795	0.08138	T	.	.	0.098	0.16231	B	.	.	1.556745	0.19942	14.51	0.94230394834022313	0.24487	0.12292	0.17179	N	AEFGBHCI	0.106600	0.21264	N	-0.883859635414085	0.11227	0.5406161	-0.798400997957961	0.14534	0.7599125	0.99999927010107	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.638787	0.57140	0	.	.	4.71	2.53	0.29594	0.178000	0.16634	3.160000	0.36564	-0.057000	0.16691	0.087000	0.22510	0.983000	0.30585	0.553000	0.30245	0.6262:0.1909:0.0:0.1829	5.091	0.14042	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	39	chr19	7921711	.	A	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=734;ExcessHet=0;FS=7.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.451;SOR=1.022	GT:AD:DP:GQ:PL	0/1:36,23:59:99:604,0,902	18	0	1	0
chr19	8087891	8087891	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon53:c.G6553A:p.E2185K,FBN3:NM_032447:exon53:c.G6553A:p.E2185K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.027501744414	7.7e-05	.	2.471e-05	0	8.637e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs367815393	4.104e-06	4.104e-06	2.722e-06	5.5e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	2.698e-06	0	2.319e-05	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.291	0.14945	T	0.289	0.21078	T	0.1	0.25713	B	0.036	0.22909	B	0.002727	0.36034	U	0.238322	0.999804	0.20292	N	0.165	0.08973	N	-2.25	0.87272	D	-0.69	0.19720	N	0.242	0.29429	-0.7460	0.58144	T	0.296	0.66754	T	10	0.22917491	0.39840	T	0.027502	0.50302	D	0.146	0.38789	.	.	0.620428437143	0.61735	0.5949054939349196	0.59420	0.218754404323	0.24414	0.373306930065	0.21305	T	0.09523	0.39579	T	-0.203825	0.20254	T	-0.327903	0.41703	T	0.0608484707772732	0.07302	T	0.725427	0.33942	T	0.026200097	0.01647	0.03656437	0.03128	0.026200097	0.01646	0.03656437	0.03128	-8.585	0.64990	D	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.222827	0.16170	12.36	0.9890790743878829	0.48308	0.06532	0.12544	N	AEFBI	0.054627	0.09948	N	-0.878710058323159	0.11351	0.547268	-0.950215988577022	0.10918	0.5530153	5.35925802081802E-4	0.07248	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.52	-1.73	0.07646	0.770000	0.26280	.	.	-0.238000	0.07553	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.2541:0.301:0.1081:0.3368	0.725	0.00886	754	0.51307	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1590.33	39	chr19	8087891	.	C	T	1590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.607;SOR=0.707	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	8110896	8110896	A	G	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon34:c.T4282C:p.C1428R,FBN3:NM_032447:exon34:c.T4282C:p.C1428R	.	409	1107	6	0	0	6	0.0027027	.	.	.	1403373	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.869	0.166884075673	0.0002	0.000599042	0.0002	0.0003	0.0003	0	0	0.0002	0	0.0001	0.0002199	34	154602	rs200146570	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	0.0002	0.0003	0	0	0	0.0019	0.0003	0.0005	8.115e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0.0170	0.0003	0	0.0002	0.0	0.91255	D	0.007	0.69154	D	0.997	0.70673	D	0.996	0.84481	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.915	0.99793	H	-5.91	0.99439	D	-10.74	0.99174	D	0.98	0.99015	0.992	0.97054	D	0.990	0.99716	D	10	0.98437643	0.98628	D	0.166884	0.84539	D	0.869	0.96059	.	.	0.955637592232	0.95516	0.9840678082431925	0.98399	0.99068493261	0.74062	0.635872840881	0.57978	T	0.652223	0.89461	D	0.365812	0.87688	D	0.586624	0.96623	D	0.995267927646637	0.87117	D	0.985476	0.95021	D	0.9654894	0.97827	0.9624825	0.99103	0.9654894	0.97827	0.9624825	0.99104	-11.784	0.83782	D	.	.	0.899	0.82708	P	.;.;.	.;.;.	4.074000	0.60556	24.2	0.99558227658864051	0.71583	0.96691	0.70426	D	AEFDGBI	0.874508	0.79742	D	0.665124312258945	0.77350	6.658051	0.427400434454445	0.63278	4.558406	0.999999051882031	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	8.391000	0.90063	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	1.0:0.0:0.0:0.0	11.506	0.49720	923	0.18507	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1960.33	34	chr19	8110896	.	A	G	1960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.135;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.614;SOR=0.744	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr19	8138508	8138508	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon9:c.C922G:p.L308V,FBN3:NM_032447:exon9:c.C922G:p.L308V	.	421	1068	32	1	0	34	0.0156682	.	.	.	728522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.381	.	0.0076	0.00279553	0.0080	0.0021	0.0064	0	0.0124	0.0109	0.0115	0.0038	0.0074449	1151	154602	rs61729623	0.0088	0.0088	0.0087	0.0089	0.0240	0.0087	0.0086	0.0207	0.0195	0.0021	0.0066	0.0200	2.519e-05	0.0097	0.0240	0.0093	0.0093	0.0045	0.0076	0.0076	0.0078	0.0075	0.0108	0.0073	0.0071	0.0102	0.0099	0.0015	0	0.0064	0.0222	0.0004	0.0119	0.0137	0.0108	0.0175	0.0039	0.011	0.55530	D	0.037	0.51737	D	0.489	0.36925	P	0.112	0.31615	B	0.000325	0.45700	N	0.090982	0.990126	0.24211	N	1.7	0.43825	L	-3.53	0.94764	D	-2.14	0.48523	N	0.168	0.17828	-0.2518	0.76310	T	0.627	0.86915	D	10	0.0063194335	0.00143	T	.	.	.	0.381	0.69863	.	.	0.644253529098	0.64130	0.5150434642766835	0.51427	0.239067160317	0.26460	0.381766617298	0.22507	T	0.326358	0.69698	T	-0.292044	0.09432	T	-0.184316	0.56121	T	0.026532822150359	0.01479	T	0.743326	0.36245	T	0.20096573	0.42090	0.105680026	0.25409	0.20096573	0.42090	0.105680026	0.25408	-5.902	0.45453	T	.	.	0.086	0.10883	B	.;.;.	.;.;.	1.685582	0.21482	15.22	0.99053821583748192	0.51321	0.88239	0.48078	D	AEFDBI	0.261466	0.37941	N	-0.666602772438951	0.16977	0.8697793	-0.732575244432098	0.16151	0.853058	3.24746571730648E-4	0.06540	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	4.06	1.72	0.23498	2.155000	0.41926	.	.	-0.161000	0.11593	0.994000	0.38300	1.000000	0.68203	0.001000	0.02609	0.0:0.1538:0.6867:0.1595	9.731	0.39530	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013131	0.030928	0.012228	0.005848	0.050000	0.017241	0.015432	0.003788	0.02632	755.33	34	chr19	8138508	.	G	C	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=710;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.086;SOR=0.377	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1139	18	0	1	0
chr19	8147136	8147136	C	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon3:c.G218T:p.R73M,FBN3:NM_032447:exon3:c.G218T:p.R73M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.0603196479403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.992	0.64738	D	0.707	0.54387	P	0.000016	0.62929	U	0.064498	0.936742	0.26909	N	1.905	0.50856	L	-2.31	0.87750	D	-2.15	0.48687	N	0.553	0.66016	-0.2177	0.77212	T	0.568	0.84331	D	10	0.626688	0.68283	D	0.06032	0.67963	D	0.497	0.78163	0.561	0.68093	0.818387826158	0.81668	0.6220054713421606	0.62133	0.637984465512	0.57542	0.530652701855	0.43126	T	0.056469	0.30297	T	0.0704861	0.60908	D	-0.136528	0.60419	T	0.858978152275085	0.50958	D	0.684232	0.29249	T	0.22814456	0.45528	0.25093457	0.50695	0.22814456	0.45528	0.25093457	0.50694	-4.697	0.33367	T	.	.	0.318	0.54383	B	.;.;.	.;.;.	3.377462	0.46700	22.3	0.95293566180184119	0.26605	0.75518	0.36979	D	AEFDBI	0.427306	0.49131	N	0.183833086879717	0.50421	3.23241	0.105109508215846	0.44809	2.755562	0.99879071726271	0.37689	0.560101	0.30754	0	0.59043	0.45803	0	0.26897	0.05253	2	0.530356	0.10902	0	.	.	3.98	2.93	0.33092	1.759000	0.38049	.	.	0.549000	0.26987	1.000000	0.71638	0.931000	0.28545	0.269000	0.23743	0.0:0.8675:0.0:0.1325	6.569	0.21725	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1197.33	34	chr19	8147136	.	C	A	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=747;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.544;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	18	0	1	0
chr19	8256251	8256251	G	C	exonic	CERS4	.	nonsynonymous SNV	CERS4:NM_024552:exon7:c.G484C:p.A162P	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00929333527146	.	0.000199681	0.0002	0	0.0001	0	0	1.721e-05	0	0.0015	0.0001552	24	154602	rs565095092	9.309e-05	9.371e-05	4.766e-05	0.0001	0.0014	8.03e-05	7.523e-05	0.0012	0.0011	0	0	0	0	0	0.0005	8.995e-07	0.0001	0.0014	7.226e-05	7.217e-05	6.426e-05	8.061e-05	0.0023	3.97e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.015	0.63226	D	0.019	0.60337	D	0.769	0.43848	P	0.359	0.43123	B	0.522822	0.11722	N	0.779605	0.999955	0.19072	N	0.205	0.09354	N	3.31	0.17271	T	-0.02	0.12283	N	0.273	0.32148	-0.9539	0.40292	T	0.012	0.04416	T	10	0.015107334	0.00317	T	0.009293	0.24389	T	0.116	0.32463	0.556	0.67409	0.0884992946249	0.08302	0.7357406102270367	0.73519	0.142740533334	0.16104	0.287986606359	0.08630	T	0.304788	0.68569	T	-0.478641	0.00753	T	-0.479325	0.24519	T	0.0401961919646046	0.03725	T	0.339666	0.09103	T	0.13597536	0.31539	0.17135295	0.39312	0.13597536	0.31539	0.17135295	0.39312	-2.685	0.07178	T	.	.	0.316	0.59589	B	.;.;.;.;.	.;.;.;.;.	1.520046	0.19514	14.30	0.86725493467557446	0.16730	0.52441	0.29132	D	AEFDGBI	0.301834	0.41025	N	-0.87128147114548	0.11529	0.5568806	-0.898567027845598	0.12128	0.6220548	0.117825502303009	0.16810	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.33	-0.334	0.12038	1.481000	0.35083	.	.	-0.124000	0.13482	0.935000	0.32453	0.175000	0.23375	0.071000	0.16709	0.5706:0.0:0.4294:0.0	7.634	0.27423	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	34	chr19	8256251	.	G	C	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.094;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.044;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1215	18	0	1	0
chr19	8302540	8302540	G	A	exonic	CD320	.	nonsynonymous SNV	CD320:NM_001165895:exon4:c.C646T:p.R216C,CD320:NM_016579:exon5:c.C772T:p.R258C	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	1	1483	35	3	0	41	0.0136349	.	.	.	377924	not_specified|not_provided|Methylmalonic_acidemia_due_to_transcobalamin_receptor_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013341,MedGen:C4749905,OMIM:613646,Orphanet:280183	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0003	0.038139	0.0214	0.0004	0.0010	0.0012	0.0002	0.0002	0.0200	0.1531	0.0185703	2871	154602	rs146190802	0.0095	0.0095	0.0053	0.0138	0.1518	0.0094	0.0093	0.1496	0.1487	0.0003	0.0002	0	0.0007	0	0.0052	0.0001	0.0095	0.1518	0.0056	0.0056	0.0029	0.0085	0.1726	0.0053	0.0052	0.1628	0.1589	0.0002	0	0.0001	0	0.0014	0	0	0.0001	0.0014	0.1726	0.17	0.22833	T	0.222	0.26386	T	0.078	0.24389	B	0.006	0.12133	B	0.728254	0.06354	N	1.162570	1	0.08975	N	1.3	0.32576	L	-4.15	0.96798	D	-1.39	0.34397	N	0.131	0.12627	-0.0917	0.80289	T	0.702	0.89742	D	10	0.0018918812	0.00026	T	.	.	.	0.171	0.43483	.	.	.	.	0.3110424995330931	0.31017	0.157689357993	0.17809	0.29886674881	0.10233	T	0.066763	0.33029	T	-0.402434	0.02232	T	-0.221025	0.52639	T	0.0059618278642031	0.00066	T	0.743426	0.36288	T	0.045751784	0.07541	0.029124541	0.01216	0.045751784	0.07541	0.029124541	0.01216	-6.356	0.49165	T	.	.	0.125	0.50306	B	.;.	.;.	1.040065	0.14208	10.78	0.94690428476183652	0.25333	0.02128	0.06281	N	ALL	0.064749	0.12591	N	-1.02829929009047	0.08019	0.3745948	-1.10097199002992	0.07682	0.3746335	0.100542589210616	0.16356	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.76	-1.38	0.08554	-0.290000	0.08390	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.5174:0.0:0.4826:0.0	6.927	0.23599	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012097	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.060606	0.02632	998.33	34	chr19	8302540	.	G	A	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.425;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.393;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	18	0	1	0
chr19	8335375	8335375	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon3:c.C452T:p.P151L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0957930192283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.665	0.06406	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.859194	0.35357	D	0.69	0.16971	N	1.8	0.25344	T	-0.12	0.08809	N	0.037	0.01135	-1.0706	0.09282	T	0.041	0.17785	T	9	0.10317618	0.18953	T	0.095793	0.76490	D	0.042	0.11227	0.146	0.04941	0.200317383148	0.19677	0.21657672849962128	0.21573	.	.	0.797208786011	0.81538	T	0.002132	0.01537	T	-0.272442	0.11486	T	-0.62912	0.10482	T	0.0932334050684199	0.11596	T	0.582242	0.21111	T	0.03589119	0.04310	0.07257228	0.15673	0.03589119	0.04310	0.07257228	0.15672	-4.107	0.25394	T	.	.	0.069	0.03515	B	.;.	.;.	1.331869	0.17371	13.12	0.99583564167972149	0.73159	0.08074	0.14046	N	AEFDGBHCI	0.068184	0.13438	N	-0.686659936579182	0.16400	0.8352725	-0.666425960013619	0.17802	0.9482433	0.999999492072957	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.63	-0.518	0.11347	-0.152000	0.10145	.	.	-0.304000	0.06167	0.732000	0.28943	0.826000	0.27170	0.011000	0.09372	0.4018:0.1817:0.4165:0.0	3.849	0.08457	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	538.33	21	chr19	8335375	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=444;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=0.617;SOR=1.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:90:.:.:0,90,900:.	18	0	1	0
chr19	8335378	8335378	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon3:c.C449T:p.A150V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0643812916599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.573e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.282	0.21545	T	0.049	0.22227	B	0.017	0.18140	B	.	.	.	.	0.996566	0.22975	N	0.68	0.16426	N	1.7	0.26885	T	-0.32	0.12283	N	0.024	0.00485	-0.9912	0.32295	T	0.051	0.21611	T	9	0.09137985	0.16001	T	0.064381	0.69260	D	0.040	0.10527	0.145	0.04843	0.255270683199	0.25152	0.21419246667678196	0.21335	.	.	0.804814457893	0.82696	D	0.004317	0.03729	T	-0.300247	0.08637	T	-0.66906	0.07669	T	0.0803980998470497	0.10039	T	0.468553	0.13811	T	0.022416295	0.00902	0.081898935	0.18649	0.022416295	0.00902	0.081898935	0.18649	-5.179	0.38728	T	.	.	0.074	0.05060	B	.;.	.;.	1.258069	0.16555	12.62	0.99696545085082611	0.80316	0.02604	0.07175	N	ALL	0.074083	0.14839	N	-0.658418685647658	0.17216	0.8839786	-0.683570739093016	0.17371	0.9233806	0.999999569769105	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.81	-1.33	0.08693	-0.364000	0.07635	.	.	-0.245000	0.07249	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.1758:0.1442:0.5318:0.1482	2.582	0.04527	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	538.33	21	chr19	8335378	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=448;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=0.592;SOR=1.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:90:.:.:0,90,900:.	18	0	1	0
chr19	8445092	8445092	G	C	exonic	HNRNPM	.	nonsynonymous SNV	HNRNPM:NM_005968:exon1:c.G94C:p.G32R,HNRNPM:NM_031203:exon1:c.G94C:p.G32R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.155927836095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.206	0.62352	T	0.998	0.73220	D	0.945	0.68163	D	0.000031	0.55875	D	0.000000	0.99811	0.44524	D	0.895	0.22405	L	2.7	0.20122	T	-0.18	0.09796	N	0.424	0.48872	-1.1186	0.02421	T	0.051	0.21767	T	10	0.261638	0.43625	T	0.155928	0.83678	D	0.135	0.36572	0.294	0.25720	0.422872527889	0.41901	0.5286889482187896	0.52792	0.671510168274	0.59462	0.723069250584	0.70494	T	0.094317	0.39391	T	-0.103108	0.35909	T	-0.385884	0.35032	T	0.902289211750031	0.55521	D	0.89491	0.65538	D	0.084774874	0.19637	0.21407256	0.45944	0.084774874	0.19636	0.21407256	0.45943	-7.807	0.61343	D	.	.	0.158	0.57224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.142343	0.62066	24.4	0.99222613971225182	0.55963	0.88193	0.48012	D	ALL	0.402297	0.47644	N	0.348553319629901	0.58663	4.039971	0.371567623110632	0.59819	4.162974	0.999999999999599	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	4.04	0.46262	1.564000	0.35983	.	.	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1042:0.0:0.8958:0.0	8.476	0.32175	779	0.47767	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1135.33	34	chr19	8445092	.	G	C	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.279;DP=732;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.479;SOR=0.462	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	8491116	8491118	GTG	-	exonic	PRAM1	.	nonframeshift deletion	PRAM1:NM_032152:exon5:c.1616_1618del:p.P539del	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5e-05	.	6.035e-05	0	0.0004	0	0	3.12e-05	0	6.155e-05	4.53e-05	7	154602	rs779212165	6.85e-05	6.977e-05	5.725e-05	7.985e-05	0.0009	5.72e-05	5.333e-05	0.0003	0.0002	2.987e-05	0.0002	0	2.519e-05	0	0.0009	7.285e-05	3.314e-05	2.319e-05	3.942e-05	3.94e-05	0	8.068e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	9.413e-05	0	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2895.29	51	chr19	8491115	.	TGTG	T	2895.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=947;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=-0.094;SOR=0.752	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	8510886	8510886	G	A	exonic	ZNF414	.	nonsynonymous SNV	ZNF414:NM_001146175:exon7:c.C1064T:p.P355L	.	422	1086	9	0	5	14	0.00412655	.	.	.	2352139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0363526090141	.	0.000399361	0	0	0	0	.	0	0	0	0.0006147	16	26028	rs576116806	0.0012	0.0011	0.0012	0.0013	0.0025	0.0011	0.0011	0.0012	0.0011	0.0002	0.0011	9.686e-05	0	0.0065	0.0025	0.0011	0.0010	0.0017	0.0017	0.0018	0.0016	0.0019	0.0029	0.0016	0.0015	0.0026	0.0024	0.0001	0	0.0004	0	0	0.0052	0.0035	0.0029	0.0005	0.0015	0.034	0.44029	D	0.005	0.72224	D	.	.	.	.	.	.	0.699057	0.10109	U	0.563667	0.999934	0.19363	N	.	.	.	1.9	0.23486	T	-0.58	0.17417	N	0.079	0.05414	-1.0086	0.27354	T	0.033	0.14029	T	10	0.0041778684	0.00083	T	0.036353	0.56939	D	0.019	0.03383	.	.	0.0716867268079	0.06686	0.1973097981213169	0.19647	0.234460416088	0.25982	0.724260568619	0.70668	T	.	.	.	-0.598319	0.00149	T	-0.631816	0.10278	T	0.012551227477016	0.00208	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-5.613	0.42911	T	.	.	0.088	0.11606	B	.	.	0.616379	0.09846	6.611	0.80118686613626455	0.13053	0.07826	0.13820	N	AEFDBI	0.064303	0.12478	N	-1.10168591181285	0.06613	0.304933	-1.10067815232798	0.07688	0.3749296	0.999373969955841	0.39355	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	-0.0554	0.13140	-0.081000	0.11285	.	.	-0.270000	0.06752	0.053000	0.21524	0.596000	0.25695	0.125000	0.19370	0.0914:0.1554:0.4341:0.3191	2.941	0.05473	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	119.38	8	chr19	8510886	.	G	A	119.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.312;DP=332;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=2.13;SOR=0.105	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	18	0	1	0
chr19	8511724	8511724	T	A	exonic	ZNF414	.	nonsynonymous SNV	ZNF414:NM_001146175:exon5:c.A767T:p.Y256F,ZNF414:NM_032370:exon5:c.A767T:p.Y256F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0098205500464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.521e-07	1.368e-06	1.473e-06	0	9.486e-07	0	0	.	.	0	0	0	0	0	0	9.486e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.32141	T	0.678	0.06147	T	0.002	0.09854	B	0.004	0.10090	B	0.132126	0.18598	N	0.552882	0.935859	0.26933	N	0.975	0.24501	L	2.93	0.09822	T	-0.66	0.19509	N	0.227	0.32148	-1.0381	0.17893	T	0.022	0.09193	T	10	0.11214697	0.21025	T	0.009821	0.25608	T	0.053	0.14996	0.199	0.11247	0.311387274539	0.30754	0.2515232898626761	0.25066	0.215026754008	0.24039	0.812098503113	0.83814	D	0.009764	0.08869	T	-0.166922	0.25701	T	-0.477548	0.24708	T	0.0874356207846057	0.10910	T	0.777722	0.41106	T	0.11633237	0.27441	0.045506388	0.06137	0.11633237	0.27441	0.045506388	0.06136	-1.797	0.02742	T	.	.	0.086	0.25914	B	.;.	.;.	1.832639	0.23282	15.96	0.89216466000390204	0.18608	0.72214	0.35354	D	AEFDBHCI	0.187119	0.31441	N	-0.481380314869444	0.22691	1.213426	-0.394624770606308	0.25156	1.381775	0.999988399393087	0.51787	0.712529	0.81865	0	0.643519	0.57511	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.28	3.24	0.36257	1.177000	0.31578	.	.	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.171000	0.21011	0.1766:0.0:0.0:0.8234	8.319	0.31276	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	34	chr19	8511724	.	T	A	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=870;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.392;SOR=0.914	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,104,1603	18	0	1	0
chr19	8541954	8541954	C	T	exonic	MYO1F	.	nonsynonymous SNV	MYO1F:NM_001348355:exon15:c.G1550A:p.R517Q,MYO1F:NM_012335:exon15:c.G1562A:p.R521Q	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.318173015559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400523125	2.053e-06	2.052e-06	0	4.127e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.893e-05	0	1.799e-06	0	0	1.973e-05	1.97e-05	0	4.039e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	0.999	0.77913	D	0.97	0.72226	D	0.000136	0.49741	D	0.078087	1	0.81001	D	3.055	0.86842	M	-2.27	0.87433	D	-3.53	0.68532	D	0.942	0.94904	0.885	0.95470	D	0.827	0.94196	D	10	0.95763516	0.95139	D	0.318173	0.91393	D	0.855	0.95544	0.729	0.86286	0.873298916305	0.87206	0.6179878133505937	0.61731	1.57570764187	0.88294	0.696632027626	0.66658	T	0.858315	0.96834	D	0.302414	0.83162	D	0.19662	0.82944	D	0.992473363876343	0.82962	D	0.992892	0.97700	D	0.37880328	0.59230	0.26989877	0.52875	0.37880328	0.59230	0.26989877	0.52874	-12.505	0.87223	D	.	.	0.887	0.81933	P	.;.;.	.;.;.	5.038690	0.83855	28.2	0.99954702541325968	0.99969	0.98602	0.84577	D	AEFDBI	0.886388	0.81773	D	0.785252469943639	0.85175	8.498326	0.678208836692281	0.80727	7.363715	0.999999969458392	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	7.874000	0.85582	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.128000	0.19490	0.0:1.0:0.0:0.0	16.738	0.85311	622	0.65860	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1594.33	34	chr19	8541954	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=779;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.546;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1305	18	0	1	0
chr19	8697692	8697692	T	C	exonic	ACTL9	.	nonsynonymous SNV	ACTL9:NM_178525:exon1:c.A1010G:p.N337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00253526304372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.099	0.38891	T	.	.	.	.	.	.	0.130542	0.18655	N	0.432089	0.739734	0.29747	N	.	.	.	2.83	0.10771	T	-4.4	0.77308	D	0.095	0.07535	-1.0825	0.06871	T	0.035	0.14857	T	10	0.7490698	0.75502	D	0.002535	0.05065	T	0.082	0.23913	0.918	0.98496	0.31501682445	0.31101	0.6925489173997654	0.69194	0.318032334486	0.34034	0.447309404612	0.31577	T	.	.	.	-0.275471	0.11154	T	-0.633471	0.10153	T	0.636651635169983	0.37895	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	1.156351	0.15446	11.86	0.91674057500047135	0.20965	0.45511	0.27555	N	AEFDBI	0.079026	0.15956	N	-0.63874361150759	0.17789	0.9183798	-0.693653757405048	0.17119	0.9088107	0.00632871486259517	0.11188	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.49	0.29274	-0.051000	0.11840	.	.	0.661000	0.55757	0.000000	0.06391	0.243000	0.23865	0.088000	0.17685	0.0:0.1543:0.0:0.8457	8.303	0.31188	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	33	chr19	8697692	.	T	C	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.572;DP=754;ExcessHet=0;FS=5.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.13;SOR=1.192	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	18	0	1	0
chr19	8812045	8812045	C	T	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon5:c.G232A:p.V78M,ZNF558:NM_144693:exon10:c.G445A:p.V149M	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0014	0.00439297	0.0044	0.0002	0.0053	0	0.0006	0.0033	0.0037	0.0179	0.0038615	597	154602	rs141831046	0.0028	0.0028	0.0025	0.0031	0.0130	0.0027	0.0027	0.0123	0.0121	0.0003	0.0035	0.0027	0	0.0011	0.0101	0.0022	0.0028	0.0130	0.0020	0.0020	0.0019	0.0022	0.0159	0.0018	0.0018	0.0131	0.0120	0.0005	0	0.0029	0.0023	0	0.0007	0.0136	0.0021	0.0028	0.0159	0.107	0.29554	T	0.031	0.53788	D	0.039	0.21116	B	0.006	0.12133	B	0.340135	0.13976	N	0.591552	0.998792	0.22406	N	1.455	0.36767	L	3.17	0.07599	T	0.16	0.05217	N	0.044	0.01999	-1.0012	0.29574	T	0.009	0.03359	T	10	0.003851056	0.00073	T	.	.	.	0.058	0.16647	.	.	0.130388298395	0.12655	0.09299499701072154	0.09231	0.20279396824	0.22698	0.293731838465	0.09470	T	0.00803	0.07391	T	-0.650123	0.00072	T	-0.694957	0.06106	T	0.0120876687652582	0.00192	T	0.494351	0.15306	T	0.025182182	0.01428	0.038717877	0.03801	0.025182182	0.01427	0.038717877	0.03801	-4.766	0.34192	T	.	.	0.117	0.27642	B	.;.	.;.	2.078965	0.26438	17.12	0.9861390534756953	0.43677	0.00829	0.03338	N	AEFBCI	0.132287	0.25153	N	-0.458921022129041	0.23439	1.258686	-0.411463281630776	0.24661	1.351677	4.99188529119317E-4	0.07150	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.19	0.561	0.16471	2.270000	0.43014	.	.	0.537000	0.25018	0.995000	0.38783	0.047000	0.21741	0.987000	0.62547	0.0:0.6206:0.1373:0.242	6.149	0.19515	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.022727	0.02632	695.33	34	chr19	8812045	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=684;ExcessHet=0;FS=4.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.361;SOR=1.371	GT:AD:DP:GQ:PL	0/1:31,26:57:99:709,0,765	18	0	1	0
chr19	8858668	8858668	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon79:c.T43000C:p.Y14334H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2815381	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.331	0.0226019362404	0.0051	0.00199681	0.0046	0.0012	0.0012	0	0.0091	0.0066	0.0044	0.0013	0.0046248	715	154602	rs62118938	0.0074	0.0074	0.0075	0.0072	0.0088	0.0073	0.0072	0.0087	0.0086	0.0011	0.0018	7.652e-05	0	0.0090	0.0005	0.0088	0.0048	0.0014	0.0047	0.0047	0.0048	0.0045	0.0078	0.0044	0.0043	0.0073	0.0071	0.0015	0	0.0013	0	0	0.0085	0	0.0078	0.0010	0.0019	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.003961	0.34294	N	0.000000	0.999944	0.19238	N	.	.	.	0.62	0.53302	T	-3.1	0.63554	D	0.323	0.36359	-0.2345	0.76769	T	0.243	0.61142	T	8	0.011470199	0.00250	T	0.022602	0.45504	T	0.331	0.65325	.	.	0.367803931526	0.36392	0.6965198915845016	0.69592	.	.	0.568241715431	0.48428	T	.	.	.	-0.226214	0.17153	T	-0.0883222	0.64288	T	0.065587077198323	0.08017	T	0.625537	0.24174	T	.	.	.	.	.	.	.	.	-7.486	0.57512	T	.	.	0.401	0.59639	A	.	.	2.425733	0.31199	18.67	0.99715760319018154	0.81703	0.93448	0.58244	D	AEBI	0.375048	0.45972	N	0.336027040640786	0.58005	3.970544	0.172871590129873	0.48365	3.053489	0.0115656998357642	0.12204	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.3	4.3	0.50540	5.183000	0.64902	.	.	0.740000	0.86194	0.901000	0.31451	1.000000	0.68203	0.211000	0.22211	1.0:0.0:0.0:0.0	10.021	0.41216	958	0.09170	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.006793	0.005882	0.000000	0.000000	0.000000	0.007576	0.02632	1918.33	35	chr19	8858668	.	A	G	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.251;SOR=0.736	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1451	18	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q	.	421	1086	15	0	0	15	0.00685871	.	.	.	3191483	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.015152	0.014946	0.002924	0.050000	0.008621	0.003049	0.000000	0.02632	344.33	37	chr19	8871627	.	C	T	344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.712;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.164;SOR=0.437	GT:AD:DP:GQ:PL	0/0:36,0:36:81:0,81,1215	18	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	496.18	232	chr19	8882357	.	T	G	496.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.964;DP=3108;ExcessHet=0.119;FS=3.351;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.84;MQRankSum=-8.775;QD=1.52;ReadPosRankSum=0.557;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:205,0:205:0:.:.:0,0,4397:.	6	0	2	11
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	487.18	237	chr19	8882360	.	G	T	487.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.557;DP=3111;ExcessHet=0.119;FS=3.348;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.85;MQRankSum=-8.848;QD=1.48;ReadPosRankSum=1.04;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:200,0:200:0:.:.:0,0,4303:.	6	0	2	11
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	98.21	133	chr19	8888076	.	G	A	98.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=1738;ExcessHet=0;FS=8.301;InbreedingCoeff=-0.1753;MLEAC=2;MLEAF=0.1;MQ=59.56;MQRankSum=-6.629;QD=1.17;ReadPosRankSum=-1.077;SOR=2.045	GT:AD:DP:GQ:PL	./.:86,0:86:0:0,0,1483	9	0	1	9
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	105.98	126	chr19	8888087	.	A	G	105.98	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.48;DP=1674;ExcessHet=0.119;FS=18.536;InbreedingCoeff=-0.2073;MLEAC=3;MLEAF=0.15;MQ=59.53;MQRankSum=-5.897;QD=0.68;ReadPosRankSum=0;SOR=3.06	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:81,0:81:0:.:.:0,0,1637:.	8	0	2	9
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	94.97	652	chr19	8888733	.	T	C	94.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.24;DP=7616;ExcessHet=0.119;FS=10.833;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=57.24;MQRankSum=-10.3;QD=0.08;ReadPosRankSum=-4.45;SOR=2.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	16	0	2	1
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	7310.79	681	chr19	8888745	.	G	A	7310.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.188;DP=8858;ExcessHet=4.0268;FS=2.799;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.125;MQ=56.47;MQRankSum=-12.32;QD=1.68;ReadPosRankSum=0.732;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	12	0	4	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2086.43	696	chr19	8888746	.	T	G	2086.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.145;DP=8818;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.24;MQRankSum=-9.961;QD=0.94;ReadPosRankSum=-3.348;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	15	0	4	0
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	3381.43	598	chr19	8888763	.	G	A	3381.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.37;DP=10081;ExcessHet=0.7564;FS=19.396;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.97;MQRankSum=-9.973;QD=1.4;ReadPosRankSum=1.4;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:531,67:598:99:0|1:8888763_G_A:1209,0,21996:8888763	15	0	4	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	1400.79	589	chr19	8888772	.	T	C	1400.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.529;DP=10042;ExcessHet=0.3672;FS=19.338;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.04;MQRankSum=-9.956;QD=0.77;ReadPosRankSum=1.05;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:536,58:594:99:.:.:426,0,22212:.	16	0	3	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:525,0:525:99:.:.:0,120,1800:.	13	0	6	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18614.9	519	chr19	8888822	.	GCTTT	*	18614.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.476;DP=9035;ExcessHet=48.2876;FS=8.727;InbreedingCoeff=-1;MLEAC=2;MLEAF=0.053;MQ=57.25;MQRankSum=-10.53;QD=2.45;ReadPosRankSum=0.453;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:311,61:494:99:.:.:3607,1481,14481:.	17	0	2	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,88:467:99:0|1:8888826_T_*:2738,0,13088:8888826	2	0	17	0
chr19	8888861	8888861	T	0	exonic	MUC16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	1385.08	336	chr19	8888861	.	T	*	1385.08	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.45;DP=5953;ExcessHet=1.3;FS=10.041;InbreedingCoeff=-0.2246;MLEAC=2;MLEAF=0.067;MQ=57.6;MQRankSum=-1.673;QD=0.89;ReadPosRankSum=4.75;SOR=2.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:331,0:386:99:0|1:8888861_T_G:1313,2309,16208:8888861	13	0	2	4
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	214.82	36	chr19	8899972	.	T	C	214.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.331;DP=1242;ExcessHet=0.119;FS=2.292;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.026;MQ=59.11;MQRankSum=-14.82;QD=0.45;ReadPosRankSum=1.92;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	282.83	36	chr19	8899974	.	G	A	282.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=1463;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.11;MQRankSum=-14.44;QD=0.59;ReadPosRankSum=2.26;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	249.83	36	chr19	8899979	.	G	T	249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.88;DP=1577;ExcessHet=0.119;FS=1.019;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.15;MQRankSum=-14.44;QD=0.5;ReadPosRankSum=2.11;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	17	0	2	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08824	625.48	36	chr19	8900001	.	C	T	625.48	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.6;DP=3191;ExcessHet=0.3672;FS=0.971;InbreedingCoeff=-0.1251;MLEAC=3;MLEAF=0.088;MQ=59.19;MQRankSum=-14.72;QD=0.84;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	14	0	3	2
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	14	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	313.92	116	chr19	8906310	.	C	G	313.92	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.262;DP=1349;ExcessHet=0.119;FS=17.506;InbreedingCoeff=-0.0791;MLEAC=2;MLEAF=0.056;MQ=58.71;MQRankSum=-11.47;QD=1.19;ReadPosRankSum=-3.465;SOR=1.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1296:.	16	0	2	1
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	367.59	128	chr19	8906323	.	G	A	367.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.412;DP=1411;ExcessHet=0.119;FS=9.405;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.056;MQ=58.81;MQRankSum=-11.82;QD=1.34;ReadPosRankSum=-1.33;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1296:.	16	0	2	1
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	393.17	129	chr19	8906325	.	A	C	393.17	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.968;DP=1423;ExcessHet=0.119;FS=7.52;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.028;MQ=58.8;MQRankSum=-11.77;QD=1.39;ReadPosRankSum=-1.235;SOR=1.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1296:.	16	0	2	1
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	477.91	132	chr19	8906329	.	A	G	477.91	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-0.176;DP=1435;ExcessHet=0.3672;FS=9.381;InbreedingCoeff=-0.101;MLEAC=3;MLEAF=0.083;MQ=58.71;MQRankSum=-11.86;QD=1.11;ReadPosRankSum=-1.861;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1296:.	15	0	3	1
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	268.84	198	chr19	8908599	.	T	C	268.84	.	AC=2;AF=0.077;AN=26;BaseQRankSum=4.28;DP=2929;ExcessHet=0.119;FS=79.1;InbreedingCoeff=-0.1644;MLEAC=3;MLEAF=0.115;MQ=59.33;MQRankSum=-8.269;QD=0.7;ReadPosRankSum=0.602;SOR=6.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:197,0:197:3:.:.:0,3,5064:.	11	0	2	6
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	263.59	201	chr19	8908602	.	C	T	263.59	.	AC=2;AF=0.083;AN=24;BaseQRankSum=4.14;DP=2938;ExcessHet=0.119;FS=37.273;InbreedingCoeff=-0.1744;MLEAC=3;MLEAF=0.125;MQ=59.4;MQRankSum=-9.666;QD=0.68;ReadPosRankSum=1.04;SOR=7.369	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:199,0:199:0:.:.:0,0,4741:.	10	0	2	7
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	265.25	205	chr19	8908604	.	G	T	265.25	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.87;DP=2948;ExcessHet=0.119;FS=37.613;InbreedingCoeff=-0.1529;MLEAC=3;MLEAF=0.115;MQ=59.4;MQRankSum=-9.69;QD=0.69;ReadPosRankSum=1.23;SOR=7.383	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:199,0:199:0:.:.:0,0,5006:.	11	0	2	6
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	216.19	203	chr19	8908608	.	T	C	216.19	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.22;DP=2925;ExcessHet=0.119;FS=34.742;InbreedingCoeff=-0.1344;MLEAC=3;MLEAF=0.107;MQ=59.37;MQRankSum=-9.761;QD=0.56;ReadPosRankSum=1.49;SOR=7.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:28:.:.:0,28,5186:.	12	0	2	5
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:178,15:193:94:94,0,7403	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:173,15:188:99:109,0,7179	11	0	8	0
chr19	8935595	8935595	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.C35360T:p.P11787L	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00283980555516	0.0002	.	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs144987884	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	8.961e-05	0.0004	0	0	0	0.0024	0.0002	0.0005	0.0002	0.0003	0.0003	0.0002	0.0004	0.0012	0.0002	0.0002	0.0008	0.0007	0	0	0.0012	0	0	0	0	0.0004	0.0005	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.65	0.04267	T	-6.75	0.92692	D	0.124	0.11626	-1.0226	0.22866	T	0.015	0.06042	T	8	0.06881893	0.09786	T	0.00284	0.05956	T	0.044	0.11924	.	.	0.240491677333	0.23641	0.16200907329393477	0.16121	.	.	0.23522773385	0.02377	T	.	.	.	-0.485264	0.00690	T	-0.600674	0.12756	T	0.0943064738323252	0.11718	T	0.360864	0.08314	T	.	.	.	.	.	.	.	.	-4.928	0.36049	T	.	.	0.108	0.20625	B	.	.	1.220171	0.16140	12.34	0.53862650906457232	0.05023	0.06315	0.12312	N	AEFDBI	0.024601	0.01548	N	-0.61636117310694	0.18452	0.9581195	-0.787624511884182	0.14798	0.7751261	6.727442026967E-4	0.07599	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.43	-0.131	0.12835	0.143000	0.15936	.	.	0.652000	0.53365	0.000000	0.06391	0.015000	0.20450	0.019000	0.11356	0.1034:0.0:0.5324:0.3642	5.558	0.16412	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	2777.33	33	chr19	8935595	.	G	A	2777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=975;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-1.191;SOR=0.778	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr19	8936792	8936792	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.C34163T:p.T11388I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00270357607377	0.0002	.	0.0001	0	0.0003	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs201448267	4.994e-05	4.994e-05	4.765e-05	5.226e-05	0.0002	4.059e-05	3.734e-05	8.862e-05	6.428e-05	0	0.0002	0	0	0	0.0002	5.666e-05	0	1.159e-05	3.297e-05	3.289e-05	5.156e-05	1.35e-05	0.0002	1.264e-05	8e-06	1.173e-05	6.25e-06	0	0	6.557e-05	0	0	0	0	4.419e-05	0	0.0002	0.181	0.21884	T	0.201	0.27503	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-2.08	0.47514	N	0.015	0.00181	-0.9136	0.46403	T	0.005	0.01506	T	8	0.042087615	0.02924	T	0.002704	0.05550	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.14183620164242722	0.14106	.	.	0.23468798399	0.02333	T	.	.	.	-0.654917	0.00068	T	-0.893806	0.00547	T	0.0160193111448912	0.00383	T	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-3.425	0.15395	T	.	.	0.109	0.20857	B	.	.	-0.925636	0.00884	0.032	0.25225529500980681	0.01153	0.01221	0.04330	N	AEFBI	0.033483	0.03981	N	-1.56988617404825	0.01422	0.06200181	-1.63547762604549	0.01453	0.06571566	0.00114290170143153	0.08272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.68	-4.41	0.03339	-1.244000	0.03013	.	.	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.138:0.2413:0.4334:0.1873	2.608	0.04588	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2038.33	127	chr19	8936792	.	G	A	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=1822;ExcessHet=0;FS=1.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.527;SOR=0.597	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	18	0	1	0
chr19	8937752	8937752	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.A33203G:p.E11068G	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00174555133926	8.3e-05	.	2.485e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs201818421	2.943e-05	2.942e-05	2.723e-05	3.164e-05	0.0007	2.217e-05	1.971e-05	0.0002	0.0001	0	0	0	2.521e-05	0	0.0007	3.059e-05	6.627e-05	0	4.608e-05	4.601e-05	2.574e-05	6.739e-05	0.0001	2.113e-05	1.529e-05	4.767e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.002	0.72154	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.16	0.02791	T	-3.6	0.69357	D	0.065	0.03726	-0.9817	0.34608	T	0.010	0.03492	T	8	0.13254535	0.25228	T	0.001746	0.02934	T	0.013	0.01715	.	.	0.119812018005	0.11559	0.12659400756740377	0.12585	.	.	0.196456521749	0.00361	T	.	.	.	-0.434859	0.01386	T	-0.682125	0.06855	T	0.180613362338207	0.19273	T	0.231877	0.03140	T	.	.	.	.	.	.	.	.	-6.982	0.53902	T	.	.	0.144	0.31808	B	.	.	0.867159	0.12399	8.934	0.58903356990075362	0.06100	0.02276	0.06567	N	AEFDBI	0.024126	0.01446	N	-0.621578106438989	0.18298	0.9487891	-0.835206052055419	0.13644	0.7088795	1.33276890413787E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.26	-0.129	0.12843	-0.662000	0.05404	.	.	0.583000	0.30283	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2596:0.2283:0.512	3.041	0.05768	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3417.33	222	chr19	8937752	.	T	C	3417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.097;DP=3906;ExcessHet=0;FS=8.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.96;QD=12.9;ReadPosRankSum=1.34;SOR=0.887	GT:AD:DP:GQ:PL	0/0:197,0:197:99:0,120,1800	18	0	1	0
chr19	8953551	8953551	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23219T:p.T7740I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00126533676546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	-1.69	0.40274	N	0.034	0.00942	-0.9413	0.42410	T	0.078	0.31224	T	8	0.11864734	0.22435	T	0.001265	0.01708	T	0.139	0.37390	0.229	0.15556	0.104622674875	0.10061	0.16965855243347536	0.16885	.	.	0.266666591167	0.05710	T	.	.	.	-0.25188	0.13869	T	-0.599584	0.12846	T	0.15432286734003	0.17442	T	0.252275	0.03843	T	.	.	.	.	.	.	.	.	-5.662	0.43354	T	.	.	0.137	0.29887	B	.	.	0.841200	0.12131	8.680	0.23754656938845095	0.01019	0.04147	0.09634	N	AEFBI	0.028830	0.02611	N	-0.703320005590979	0.15928	0.8071039	-1.00479163885088	0.09679	0.4829754	0.00198049876597583	0.09053	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.33	-4.66	0.03090	1.897000	0.39430	.	.	0.618000	0.50648	0.210000	0.24424	0.000000	0.08366	0.010000	0.09038	0.0:0.594:0.2426:0.1634	7.483	0.26584	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2629.33	139	chr19	8953551	.	G	A	2629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=2347;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.84;SOR=0.752	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr19	8953686	8953686	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23084A:p.A7695D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00262351406188	.	0.000199681	0.0005	0.0001	0	0	0	0	0.0011	0.0034	0.0004075	63	154602	rs577486426	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	2.989e-05	0	0	0	0	0.0002	3.602e-06	0.0002	0.0032	9.197e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.527e-05	4.364e-05	0.0016	0.0013	2.406e-05	0	0	0	0	0	0	0	0	0.0027	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.72	0.26588	T	-1.11	0.28703	N	0.121	0.11197	-0.9805	0.34886	T	0.075	0.30055	T	8	0.006643772	0.00151	T	0.002624	0.05320	T	0.023	0.04649	0.214	0.13354	0.0666544352282	0.05500	0.13852720108434227	0.13775	.	.	0.226748734713	0.01736	T	.	.	.	-0.597919	0.00150	T	-0.632802	0.10203	T	0.0212397983201756	0.00826	T	0.20198	0.02320	T	.	.	.	.	.	.	.	.	-7.051	0.54405	T	.	.	0.248	0.48293	B	.	.	0.315287	0.06903	3.440	0.32675733597517687	0.01906	0.00833	0.03349	N	AEFBI	0.026980	0.02123	N	-0.601461891430767	0.18901	0.9850036	-0.869876600942258	0.12810	0.6611325	9.30407969372152E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.503917	0.08554	0	.	.	2.22	-0.231	0.12441	-0.098000	0.10993	.	.	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1752:0.3187:0.506:0.0	3.569	0.07463	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1726.33	139	chr19	8953686	.	G	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.622;DP=2325;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.81;SOR=0.968	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	243.15	136	chr19	8960112	.	G	C	243.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-5.914;DP=2748;ExcessHet=0;FS=200.788;InbreedingCoeff=-0.0582;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.27;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	16	0	1	2
chr19	8960197	8960197	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T16573C:p.S5525P	.	435	1076	10	1	0	12	0.00554529	.	.	.	716820	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0051	0.00479233	0.0083	0.0013	0.0018	0	0.0181	0.0119	0.0067	0.0027	0.0079947	1236	154602	rs79202331	0.0082	0.0082	0.0082	0.0082	0.0111	0.0081	0.0080	0.0089	0.0087	0.0010	0.0025	0.0144	2.519e-05	0.0177	0.0111	0.0089	0.0071	0.0024	0.0072	0.0072	0.0072	0.0072	0.0097	0.0069	0.0067	0.0091	0.0088	0.0015	0	0.0075	0.0130	0	0.0172	0.0204	0.0097	0.0076	0.0029	0.097	0.30943	T	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.54	0.16598	N	0.036	0.01068	-0.9867	0.33420	T	0.005	0.01833	T	8	0.0048202574	0.00102	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	0.022173761645922854	0.02169	.	.	0.198162183166	0.00405	T	.	.	.	-0.73462	0.00022	T	-0.815033	0.01555	T	0.0015036828539327	0.00015	T	0.150285	0.01269	T	.	.	.	.	.	.	.	.	-5.308	0.40022	T	.	.	0.093	0.14015	B	.	.	0.592832	0.09614	6.386	0.28077173634888841	0.01424	0.01306	0.04530	N	AEFBI	0.034542	0.04297	N	-1.25663538588278	0.04213	0.1897029	-1.33152552968312	0.04028	0.1891625	1.16888634297352E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.89	0.851	0.18128	0.085000	0.14759	.	.	-0.230000	0.07744	0.005000	0.17040	0.000000	0.08366	0.032000	0.13371	0.8048:0.0:0.1952:0.0	3.871	0.08542	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.011696	0.000000	0.008621	0.012195	0.003788	0.07895	8554.79	165	chr19	8960197	.	A	G	8554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.287;DP=2949;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.32;SOR=0.758	GT:AD:DP:GQ:PL	0/1:101,100:201:99:2667,0,2776	16	0	3	0
chr19	8962383	8962383	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C14387G:p.T4796R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000577484096583	.	.	7.491e-05	0	0.0002	0	0	3.005e-05	0	0.0003	5.82e-05	9	154602	rs765644259	5.476e-05	5.472e-05	4.358e-05	6.606e-05	0.0003	4.48e-05	4.15e-05	0.0002	0.0002	0	4.479e-05	0	0	0	0.0002	3.599e-05	0.0001	0.0003	2.626e-05	2.625e-05	1.285e-05	4.027e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.027	0.46513	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.94	0.25118	N	0.077	0.05162	-0.9972	0.30701	T	0.020	0.08500	T	8	0.03425798	0.01627	T	5.77E-4	0.00246	T	0.048	0.13305	0.15	0.05339	0.115124310173	0.11017	0.056108014265579854	0.05551	.	.	0.192575097084	0.00274	T	.	.	.	-0.535699	0.00355	T	-0.711078	0.05239	T	0.0399457059701247	0.03680	T	0.208179	0.02493	T	.	.	.	.	.	.	.	.	-5.051	0.37389	T	.	.	0.102	0.18080	B	.	.	-0.194887	0.03116	0.497	0.13666500354153346	0.00277	0.01792	0.05602	N	AEFBI	0.025304	0.01711	N	-1.7733248050774	0.00614	0.02645627	-1.84910674130697	0.00614	0.02729889	2.92334270481457E-4	0.06406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-2.77	0.05529	0.074000	0.14525	.	.	-2.798000	0.00185	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1701:0.2343:0.358:0.2377	0.718	0.00876	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3493.33	129	chr19	8962383	.	G	C	3493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.958;DP=2274;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.873;SOR=0.633	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	18	0	1	0
chr19	8962885	8962885	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G13885A:p.A4629T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000695472116619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.411	0.10115	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.63	0.18459	N	0.012	0.00125	-0.9439	0.41992	T	0.005	0.01761	T	8	0.05693823	0.06461	T	6.95E-4	0.00418	T	0.032	0.07718	0.238	0.16912	0.0138822411134	0.00435	0.035836486923177154	0.03530	.	.	0.190365165472	0.00232	T	.	.	.	-0.458422	0.01005	T	-0.896268	0.00529	T	0.0305427921117564	0.02074	T	0.268673	0.04486	T	.	.	.	.	.	.	.	.	-4.259	0.27598	T	.	.	0.080	0.07745	B	.	.	-0.420511	0.02136	0.205	0.17758195122247919	0.00531	0.00118	0.00744	N	AEFBI	0.017450	0.00458	N	-1.86753010663333	0.00400	0.01719926	-1.95760046765582	0.00375	0.01657609	0.0042054694804888	0.10457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.11	0.04975	-2.183000	0.01340	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5023:0.0:0.4977	8.241	0.30820	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1840.33	129	chr19	8962885	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.779;DP=2118;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.05;SOR=0.565	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	18	0	1	0
chr19	8964129	8964129	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G12641A:p.G4214D	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00139745083586	.	.	3.318e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs780594828	1.847e-05	1.915e-05	1.77e-05	1.926e-05	0.0010	1.265e-05	1.084e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	9.894e-06	8.283e-05	4.638e-05	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0001	8.15e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.129	0.26852	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	-1.69	0.40274	N	0.125	0.11769	-1.0360	0.18544	T	0.028	0.11971	T	8	0.059600323	0.07189	T	0.001397	0.02062	T	0.092	0.26621	0.097	0.01334	0.0551355673512	0.04727	0.04115539750325086	0.04060	.	.	0.2228115201	0.01478	T	.	.	.	-0.425113	0.01587	T	-0.666894	0.07809	T	0.0108906490402136	0.00156	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-4.321	0.28470	T	.	.	0.209	0.43599	B	.	.	-0.179869	0.03195	0.527	0.41242074016971603	0.02963	0.00102	0.00658	N	AEFBI	0.016913	0.00410	N	-1.3441362591351	0.03186	0.1419037	-1.47986091454833	0.02510	0.1155426	8.0881255992157E-4	0.07842	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.31	-2.61	0.05811	-2.451000	0.01083	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.3365:0.2901:0.0:0.3734	2.250	0.03793	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2268.33	109	chr19	8964129	.	C	T	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1951;ExcessHet=0;FS=4.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.181;SOR=1.025	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	18	0	1	0
chr19	8964694	8964694	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.A12076G:p.T4026A	.	434	1055	31	2	0	35	0.016317	.	.	.	2815426	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0022	0.00279553	0.0034	0.0004	0.0019	0	0.0002	0.0033	0.0122	0.0088	0.0032276	499	154602	rs148585362	0.0027	0.0027	0.0025	0.0029	0.0161	0.0026	0.0026	0.0135	0.0125	0.0007	0.0029	0.0145	2.519e-05	5.618e-05	0.0161	0.0021	0.0039	0.0088	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0050	0.0003	0	0.0042	0.0118	0.0002	9.42e-05	0.0238	0.0027	0.0047	0.0077	0.011	0.55530	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	-0.79	0.21860	N	0.013	0.00142	-0.9108	0.46756	T	0.003	0.00994	T	8	0.0037052333	0.00068	T	.	.	.	0.075	0.21907	.	.	0.0138822411134	0.00435	0.0659111179427683	0.06530	.	.	0.206093788147	0.00656	T	.	.	.	-0.757965	0.00016	T	-0.854718	0.00902	T	0.00588009084003625	0.00065	T	0.238576	0.03390	T	.	.	.	.	.	.	.	.	-4.171	0.26330	T	.	.	0.082	0.08899	B	.	.	-0.230600	0.02939	0.431	0.22670875842891453	0.00923	0.01979	0.05984	N	AEFBI	0.020420	0.00804	N	-2.07862487576974	0.00143	0.00610154	-2.1391363994693	0.00153	0.006729086	5.16135264836763E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-2.75	0.05564	-1.122000	0.03378	.	.	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1782:0.1271:0.3633:0.3314	1.136	0.01647	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.000000	0.021739	0.014620	0.000000	0.008621	0.009146	0.011364	0.02632	3286.33	109	chr19	8964694	.	T	C	3286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=1956;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.04;ReadPosRankSum=-0.334;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	18	0	1	0
chr19	8979513	8979513	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.C1626G:p.S542R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00111623550104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-1.2	0.30555	N	0.113	0.10056	-0.9052	0.47424	T	0.005	0.01506	T	8	0.07426649	0.11332	T	0.001116	0.01336	T	0.095	0.27398	0.128	0.03331	0.0611884634855	0.05136	0.018430753165692287	0.01797	.	.	0.217821210623	0.01188	T	.	.	.	-0.266281	0.12175	T	-0.620271	0.11163	T	0.134409652495421	0.15784	T	0.240176	0.03436	T	.	.	.	.	.	.	.	.	-2.043	0.03347	T	.	.	0.577	0.67936	P	.	.	0.588127	0.09566	6.341	0.80063180321786698	0.13027	0.00746	0.03108	N	AEFBI	0.026121	0.01906	N	-0.741878462568604	0.14855	0.7435726	-0.890315785625268	0.12323	0.6331939	9.27988109101512E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.3	0.162	0.14269	0.151000	0.16101	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.0:0.0:0.4225:0.5775	4.087	0.09427	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	40	chr19	8979513	.	G	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=1612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.227;SOR=0.681	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	18	0	1	0
chr19	9126707	9126707	G	T	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.C244A:p.L82M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.000970064711628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	0.999	0.77913	D	0.927	0.66185	D	0.071896	0.21444	N	0.234794	0.986253	0.24634	N	2.75	0.80375	M	7.41	0.00408	T	-1.76	0.41618	N	0.354	0.39558	-0.9446	0.41879	T	0.003	0.00929	T	10	0.30478245	0.48000	T	9.7E-4	0.01003	T	0.074	0.21613	0.619	0.75347	0.207176502487	0.20327	0.04985067654200401	0.04928	0.101057626783	0.11422	0.289944469929	0.08914	T	0.00529	0.04740	T	-0.235284	0.15955	T	-0.575746	0.14927	T	0.716151416301727	0.41505	D	0.630137	0.24490	T	0.31629997	0.54325	0.27267912	0.53181	0.31629997	0.54325	0.27267912	0.53180	-8.546	0.64733	D	.	.	0.165	0.36315	B	.	.	2.305762	0.29507	18.15	0.99439663377052134	0.64720	0.24527	0.22421	N	AEFDGBI	0.080116	0.16193	N	0.0247000898984706	0.42980	2.600047	-0.191523539321295	0.31847	1.806194	6.62558190352836E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	0.353	0.15294	0.059000	0.14199	.	.	0.564000	0.28548	0.063000	0.21864	0.000000	0.08366	0.493000	0.28859	0.0893:0.0:0.463:0.4478	6.517	0.21449	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1985.33	35	chr19	9126707	.	G	T	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=1209;ExcessHet=0;FS=4.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-2.001;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	18	0	1	0
chr19	9214159	9214159	C	T	exonic	OR7D4	.	nonsynonymous SNV	OR7D4:NM_001005191:exon1:c.G679A:p.G227R	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000796661839295	0.0012	0.00299521	0.0004	0.0038	0.0006	0	0	1.499e-05	0.0011	0	0.0004786	74	154602	rs74657983	0.0003	0.0005	0.0003	0.0002	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0004	3.828e-05	2.524e-05	1.874e-05	0.0002	0.0002	0.0006	2.322e-05	0.0012	0.0013	0.0011	0.0013	0.0036	0.0011	0.0010	0.0032	0.0030	0.0036	0	0.0012	0	0	0	0	0.0001	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.030318	0.25327	N	0.322108	1	0.08975	N	-1.8	0.00289	N	9.06	0.00017	T	2.47	0.00242	N	0.068	0.04072	-0.9200	0.45554	T	0.000	0.00039	T	10	0.005191475	0.00113	T	7.97E-4	0.00629	T	0.035	0.08770	0.355	0.35571	0.212008924253	0.20833	0.03316021031454337	0.03264	0.0482655597038	0.05275	0.214341670275	0.01009	T	0.001183	0.00684	T	-0.769659	0.00013	T	-0.879176	0.00661	T	0.0040604594460688	0.00043	T	0.0616938	0.00449	T	0.043618158	0.06828	0.051183805	0.08186	0.043618158	0.06828	0.051183805	0.08185	-1.39	0.01553	T	.	.	0.071	0.04002	B	.;.;.	.;.;.	0.717620	0.10865	7.542	0.099884151547680822	0.00115	0.00032	0.00291	N	AEFGBI	0.014945	0.00260	N	-1.87492046863327	0.00386	0.01661141	-1.76645482727861	0.00873	0.03900625	7.45206701991915E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	0.166	0.14287	0.403000	0.20706	.	.	-0.474000	0.05084	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.2959:0.1539:0.5503	4.771	0.12530	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	133.33	34	chr19	9214159	.	C	T	133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.361;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.18;MQRankSum=-11.53;QD=0.93;ReadPosRankSum=0.904;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1383	18	0	1	0
chr19	9251869	9251869	G	T	exonic	OR7E24	.	nonsynonymous SNV	OR7E24:NM_001079935:exon1:c.G826T:p.G276W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0012507490271	0.0002	0.000599042	0.0002	0.0003	0	0.0021	0	0	0	6.083e-05	0.0001746	27	154602	rs184473277	0.0001	0.0001	0.0001	0.0001	0.0025	9.333e-05	8.817e-05	0.0021	0.0019	5.974e-05	0	0	0.0025	0	0.0002	3.597e-06	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	9.701e-05	0.0012	0.0009	0.0003	0	0	0	0.0021	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	8.73	0.00091	T	-0.61	0.18042	N	0.193	0.21188	-1.0086	0.27354	T	0.000	0.00152	T	9	0.01376304	0.00291	T	0.001251	0.01683	T	0.019	0.03383	.	.	0.461583377977	0.45782	.	.	0.0156864422281	0.01497	0.188851892948	0.00205	T	0.00281	0.02207	T	-0.554996	0.00272	T	-0.576774	0.14834	T	0.0395187439213905	0.03604	T	0.90391	0.66280	D	0.1777713	0.38760	0.24156941	0.49558	0.1777713	0.38760	0.24156941	0.49557	-6.212	0.48020	T	.	.	0.306	0.53448	B	.;.	.;.	2.382664	0.30587	18.48	0.47745623393390996	0.03928	0.02843	0.07595	N	AEFI	0.083170	0.16847	N	-0.962279903090534	0.09419	0.4456793	-1.06211749803933	0.08456	0.415862	2.07238171631385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.21	1.14	0.19817	0.051000	0.14025	.	.	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3017:0.0:0.6983:0.0	5.265	0.14909	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1627.33	33	chr19	9251869	.	G	T	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.009;DP=941;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.968;SOR=0.788	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	18	0	1	0
chr19	9415667	9415667	C	A	exonic	ZNF266	.	nonsynonymous SNV	ZNF266:NM_001370390:exon7:c.G191T:p.S64I,ZNF266:NM_001370379:exon8:c.G191T:p.S64I,ZNF266:NM_001370380:exon8:c.G191T:p.S64I,ZNF266:NM_001370385:exon8:c.G392T:p.S131I,ZNF266:NM_001370388:exon8:c.G191T:p.S64I,ZNF266:NM_001370396:exon8:c.G191T:p.S64I,ZNF266:NM_001370376:exon9:c.G191T:p.S64I,ZNF266:NM_001370381:exon9:c.G191T:p.S64I,ZNF266:NM_001370382:exon9:c.G191T:p.S64I,ZNF266:NM_001370384:exon9:c.G392T:p.S131I,ZNF266:NM_001370389:exon9:c.G191T:p.S64I,ZNF266:NM_001370391:exon9:c.G191T:p.S64I,ZNF266:NM_001370398:exon9:c.G191T:p.S64I,ZNF266:NM_001370399:exon9:c.G191T:p.S64I,ZNF266:NM_001271314:exon10:c.G191T:p.S64I,ZNF266:NM_001370374:exon10:c.G392T:p.S131I,ZNF266:NM_001370375:exon10:c.G392T:p.S131I,ZNF266:NM_001370383:exon10:c.G191T:p.S64I,ZNF266:NM_001370386:exon10:c.G191T:p.S64I,ZNF266:NM_001370387:exon10:c.G191T:p.S64I,ZNF266:NM_001370392:exon10:c.G191T:p.S64I,ZNF266:NM_001370393:exon10:c.G191T:p.S64I,ZNF266:NM_001370394:exon10:c.G191T:p.S64I,ZNF266:NM_001370395:exon10:c.G191T:p.S64I,ZNF266:NM_001370400:exon10:c.G191T:p.S64I,ZNF266:NM_006631:exon10:c.G191T:p.S64I,ZNF266:NM_001370377:exon11:c.G191T:p.S64I,ZNF266:NM_001370378:exon11:c.G191T:p.S64I,ZNF266:NM_001370397:exon11:c.G191T:p.S64I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.000700161929862	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs777919998	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.479e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.659e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.28120	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	3.08	0.08460	T	.	.	.	0.178	0.19325	-0.9384	0.42869	T	0.012	0.04510	T	9	0.060538888	0.07451	T	7.0E-4	0.00435	T	.	.	0.307	0.27806	0.12205267543	0.11705	.	.	0.0305089366149	0.03155	0.227612167597	0.01796	T	0.054071	0.29621	T	-0.38423	0.02929	T	-0.692842	0.06226	T	0.0321038602027739	0.02323	T	0.105789	0.01041	T	0.034206435	0.03795	0.046141826	0.06366	0.034206435	0.03794	0.046141826	0.06366	-5.602	0.42810	T	.	.	0.126	0.26762	B	.;.;.;.;.	.;.;.;.;.	-0.379561	0.02290	0.240	0.65952986406322001	0.07919	0.00738	0.03085	N	AEFDBI	0.027599	0.02284	N	-1.47157855053401	0.02053	0.09023989	-1.60571654543827	0.01621	0.07354773	0.0506333644033441	0.14846	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.04	-6.08	0.01969	-3.347000	0.00558	.	.	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.2889:0.2702:0.1434:0.2976	0.235	0.00172	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	33	chr19	9415667	.	C	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.165;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.929;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	18	0	1	0
chr19	9528504	9528504	G	A	exonic	ZNF426	.	nonsynonymous SNV	ZNF426:NM_001300883:exon6:c.C1427T:p.T476M,ZNF426:NM_001318055:exon7:c.C1208T:p.T403M,ZNF426:NM_024106:exon8:c.C1541T:p.T514M	.	.	.	.	.	.	.	.	.	.	.	2348594	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00114034923298	0.0002	0.000199681	0.0002	0.0005	0.0002	0.0003	0.0005	0.0002	0	6.058e-05	0.0002264	35	154602	rs200716581	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0004	0.0001	0	0.0003	0.0003	0.0005	0.0003	0.0002	0.0001	0.0003	0.0003	0.0004	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0	0	0.0002	0.0005	0	0.0003	0	0	0.072	0.34982	T	0.046	0.49120	D	0.133	0.27236	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.935	0.23595	L	3.19	0.07353	T	-2.13	0.48354	N	0.115	0.10483	-1.0739	0.08577	T	0.017	0.06759	T	9	0.012172103	0.00263	T	0.00114	0.01410	T	0.030	0.07022	.	.	0.136095386433	0.13204	0.017866319776144675	0.01741	0.0935882458747	0.10573	0.286728322506	0.08448	T	0.222339	0.58616	T	-0.594683	0.00157	T	-0.737963	0.03977	T	0.00732710459435456	0.00084	T	0.0345215	0.00232	T	0.017885698	0.00312	0.051987767	0.08476	0.017885698	0.00312	0.051987767	0.08475	-6.432	0.49759	T	.	.	0.446	0.64559	A	.;.;.	.;.;.	0.226547	0.06082	2.526	0.8259042784037659	0.14271	0.00002	0.00064	N	AEFBHCI	0.029742	0.02864	N	-1.7917616591177	0.00565	0.02435963	-1.97596380803787	0.00344	0.01519354	0.181872071779767	0.17883	0.732398	0.92422	0	0.743671	0.97443	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.51	-3.01	0.05132	-14.778000	0.00000	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.2418:0.5253:0.2329:0.0	6.151	0.19527	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1911.33	38	chr19	9528504	.	G	A	1911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.174;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.71;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1318	18	0	1	0
chr19	9757825	9757825	C	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G865A:p.G289R,ZNF846:NM_001077624:exon6:c.G1252A:p.G418R,ZNF846:NM_001353799:exon6:c.G1249A:p.G417R	.	377	1128	16	1	0	18	0.00791557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0025198218614	0.0007	0.000998403	0.0008	0.0003	0.0004	0.0001	0	0.0009	0.0022	0.0018	0.000815	126	154602	rs78118057	0.0007	0.0007	0.0006	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0	5.039e-05	1.872e-05	0.0057	0.0007	0.0012	0.0021	0.0010	0.0010	0.0010	0.0009	0.0035	0.0008	0.0008	0.0028	0.0025	0.0001	0	0.0035	0	0	0	0.0102	0.0009	0.0043	0.0027	0.018	0.50676	D	0.01	0.65728	D	0.998	0.73220	D	0.861	0.61279	P	.	.	.	.	1	0.81001	D	1.985	0.53793	M	4.72	0.01636	T	-7.56	0.95216	D	0.188	0.20528	-0.9866	0.33445	T	0.010	0.03492	T	8	0.016305774	0.00343	T	0.00252	0.05037	T	0.092	0.26621	0.402	0.43245	0.156986980423	0.15292	0.012246333069599663	0.01183	0.0754831300525	0.08464	0.358091592789	0.19107	T	0.076781	0.35499	T	-0.455752	0.01044	T	-0.457511	0.26870	T	0.109626964581686	0.13384	T	0.605039	0.22725	T	0.37053517	0.58624	0.38306525	0.63279	0.37053517	0.58625	0.38306525	0.63278	-8.044	0.61370	D	.	.	0.602	0.68946	P	.	.	2.732761	0.35776	19.99	0.99696630778219697	0.80316	0.00271	0.01473	N	AEFDBHCI	0.142696	0.26521	N	-0.272408540502247	0.30217	1.682853	-0.527505241717213	0.21408	1.157922	0.0131411454864635	0.12423	0.460665	0.09802	0	0.486142	0.07564	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.01	-0.196	0.12582	1.792000	0.38387	.	.	0.493000	0.22426	0.178000	0.24038	0.000000	0.08366	0.893000	0.43066	0.0:0.6966:0.0:0.3034	5.979	0.18627	906	0.23090	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1274.33	33	chr19	9757825	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=779;ExcessHet=0;FS=7.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.657;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr19	9757861	9757864	AATT	-	exonic	ZNF846	.	frameshift deletion	ZNF846:NM_001353798:exon5:c.826_829del:p.N276Pfs*8,ZNF846:NM_001077624:exon6:c.1213_1216del:p.N405Pfs*8,ZNF846:NM_001353799:exon6:c.1210_1213del:p.N404Pfs*8	.	381	1134	7	0	0	7	0.00307692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0008	0	0.0002	0	0.0012	0.0011	0.0022	0.0010	0.0006662	103	154602	rs779744151	0.0006	0.0006	0.0005	0.0006	0.0036	0.0006	0.0005	0.0024	0.0021	0.0001	0.0004	0.0001	0	0.0006	0.0036	0.0006	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0007	0.0006	0	0	0.0004	0	0	0.0003	0	0.0008	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	4124.79	33	chr19	9757860	.	GAATT	G	4124.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.287;DP=825;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=1.66;SOR=0.802	GT:AD:DP:GQ:PL	0/1:41,56:97:99:2168,0,1533	17	0	2	0
chr19	9758010	9758010	T	A	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.A680T:p.H227L,ZNF846:NM_001077624:exon6:c.A1067T:p.H356L,ZNF846:NM_001353799:exon6:c.A1064T:p.H355L	.	395	1120	7	0	0	7	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.0115847110778	0.0063	0.00259585	0.0045	0.0013	0.0023	0.0002	0.0003	0.0070	0.0011	0.0018	0.0046959	726	154602	rs79195449	0.0072	0.0072	0.0073	0.0070	0.0094	0.0071	0.0070	0.0085	0.0085	0.0015	0.0019	0.0003	0	0.0007	0.0094	0.0087	0.0065	0.0024	0.0048	0.0048	0.0050	0.0046	0.0084	0.0045	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0	0	0.0004	0.0136	0.0084	0.0095	0.0033	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	4.03	0.96931	H	-2.18	0.86722	D	-10.87	0.99235	D	0.569	0.59223	0.082	0.83846	D	0.778	0.92446	D	8	0.011049181	0.00243	T	0.011585	0.29347	T	0.547	0.81193	.	.	0.526486031964	0.52295	0.12134552205757543	0.12061	0.0750471914227	0.08422	0.590041160583	0.51499	T	0.286232	0.65902	T	-0.0204679	0.48787	T	0.20295	0.83288	D	0.127009606606211	0.15103	T	0.609039	0.23055	T	0.6991818	0.78012	0.5696994	0.75085	0.6991818	0.78013	0.5696994	0.75086	-11.551	0.82595	D	.	.	0.871	0.80947	P	.	.	2.823332	0.37201	20.4	0.96672777143995958	0.30668	0.00358	0.01837	N	AEFBHCI	0.177665	0.30491	N	0.354605625575247	0.58984	4.07415	0.0960950803817417	0.44351	2.718609	0.488696173875219	0.20844	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	2.01	0.25568	6.422000	0.73266	.	.	0.545000	0.25583	1.000000	0.71638	0.000000	0.08366	0.988000	0.63387	0.0:0.0:0.0:1.0	8.021	0.29573	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1135.33	33	chr19	9758010	.	T	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.036;SOR=0.755	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	9811204	9811204	G	A	exonic	FBXL12	.	nonsynonymous SNV	FBXL12:NM_001316936:exon2:c.C574T:p.R192C,FBXL12:NM_001316941:exon2:c.C514T:p.R172C,FBXL12:NM_001316937:exon3:c.C514T:p.R172C,FBXL12:NM_001316940:exon3:c.C514T:p.R172C,FBXL12:NM_017703:exon3:c.C673T:p.R225C,FBXL12:NM_001316938:exon4:c.C514T:p.R172C,FBXL12:NM_001316939:exon4:c.C514T:p.R172C,FBXL12:NM_001316942:exon4:c.C514T:p.R172C	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00516531896304	0.0016	0.000798722	0.0016	0.0002	0.0002	0.0002	0.0019	0.0019	0.0023	0.0028	0.0015006	232	154602	rs140944467	0.0018	0.0018	0.0018	0.0018	0.0036	0.0017	0.0017	0.0024	0.0021	0.0002	0.0006	0.0003	7.56e-05	0.0017	0.0036	0.0019	0.0019	0.0025	0.0013	0.0013	0.0014	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0012	0.0003	0.0002	0.0016	0	0.0020	0.0024	0.0010	0.132	0.26519	T	0.127	0.92824	T	0.998	0.73220	D	0.483	0.47159	P	0.164828	0.17550	N	0.534882	0.99707	0.81001	D	1.195	0.30194	L	1.71	0.26737	T	-1.88	0.43906	N	0.216	0.46928	-1.0657	0.10386	T	0.033	0.14247	T	9	0.013186842	0.00281	T	0.005165	0.13125	T	0.124	0.34239	.	.	0.504297271243	0.50068	0.6043305414029869	0.60364	0.406531539876	0.41531	0.619073629379	0.55598	T	0.255759	0.62658	T	-0.415863	0.01818	T	-0.375683	0.36227	T	0.0192997779396386	0.00636	T	0.880112	0.59716	D	0.12675226	0.29680	0.09963328	0.23795	0.12675226	0.29679	0.09963328	0.23795	-6.616	0.51176	T	.	.	0.115	0.28778	B	.;.;.	.;.;.	4.008641	0.59116	24.1	0.99599110320259587	0.74101	0.79728	0.39564	D	AEFBCI	0.238553	0.36065	N	0.112439307235421	0.47043	2.935572	0.207648175980257	0.50273	3.220945	0.756779485971929	0.23447	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	1.307000	0.33121	.	.	0.676000	0.76740	0.943000	0.32764	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.009	0.58126	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	2094.33	33	chr19	9811204	.	G	A	2094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=774;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.854;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	18	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	309.13	41	chr19	9854801	.	G	C	309.13	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.882;DP=1786;ExcessHet=0.7564;FS=174.643;InbreedingCoeff=-0.138;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.25;SOR=10.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	14	0	4	1
chr19	9960652	9960652	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon66:c.G5090A:p.R1697Q	.	.	.	.	.	.	.	.	0.0002	0.104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0465824539956	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs760411375	2.189e-05	2.189e-05	2.178e-05	2.2e-05	0.0001	1.584e-05	1.356e-05	4.358e-05	2.767e-05	2.987e-05	0.0001	0	0	0	0	2.248e-05	1.656e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.551e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.551e-05	0	0	9.414e-05	0	0	0	0	0.515	0.07378	T	0.536	0.09897	T	0.271	0.31796	B	0.074	0.28220	B	0.000321	0.45977	U	0.089712	0.63665	0.30652	N	0.925	0.23481	L	-0.66	0.72348	T	-0.14	0.09135	N	0.11	0.09631	-0.9556	0.39988	T	0.111	0.39841	T	10	0.09802762	0.17696	T	0.046582	0.62527	D	0.060	0.17295	0.423	0.46693	0.501940320817	0.49831	0.47187657308248054	0.47106	0.400919444924	0.41090	0.264762610197	0.05471	T	0.021654	0.16823	T	-0.327332	0.06316	T	-0.438667	0.28958	T	0.0708151331983836	0.08764	T	0.818618	0.47570	T	0.05060377	0.09168	0.044912737	0.05925	0.05060377	0.09167	0.044912737	0.05924	-3.68	0.19023	T	.	.	0.077	0.06617	B	.	.	1.612952	0.20610	14.83	0.46726734052368885	0.03765	0.10287	0.15835	N	AEFDBI	0.273648	0.38901	N	-0.752806875664913	0.14558	0.7261424	-0.679997388502851	0.17462	0.9285768	0.101795238972516	0.16391	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.03	3.0	0.33773	0.029000	0.13555	.	.	0.595000	0.32841	0.088000	0.22533	0.949000	0.28973	0.225000	0.22599	0.0:0.7647:0.0:0.2353	5.846	0.17919	909	0.22467	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2454.33	39	chr19	9960652	.	C	T	2454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=847;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.074;SOR=0.808	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr19	9962857	9962857	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon65:c.C4813T:p.P1605S	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0526722340931	.	0.000798722	0.0008	0	0.0001	0	0	5.954e-05	0	0.0054	0.0005433	84	154602	rs547819367	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	0	2.251e-05	0	0	0	0.0003	0.0001	0.0003	0.0038	0.0001	0.0001	0.0001	0.0002	0.0031	9.74e-05	8.255e-05	0.0019	0.0015	0	0	0	0	0	0	0	8.82e-05	0.0005	0.0031	0.008	0.58626	D	0.048	0.48594	D	0.973	0.57599	D	0.867	0.61644	P	0.000677	0.42516	D	0.156073	0.999987	0.54805	D	2.08	0.57402	M	-0.61	0.71779	T	-5.97	0.89272	D	0.399	0.43995	-0.0624	0.80942	T	0.450	0.78443	T	10	0.011314273	0.00248	T	0.052672	0.65165	D	0.530	0.80188	.	.	0.823787080964	0.82212	0.570798416760693	0.57007	0.35204900141	0.37038	0.568694114685	0.48493	T	0.364316	0.72992	T	-0.305926	0.08113	T	-0.212225	0.53482	T	0.193235278474338	0.20033	T	0.987401	0.95706	D	0.47936678	0.65862	0.59586596	0.76536	0.47936678	0.65863	0.59586596	0.76537	-5.605	0.42838	T	.	.	0.220	0.45099	B	.	.	4.426141	0.68596	25.3	0.99608587080715505	0.74634	0.98932	0.88807	D	AEFDBI	0.916908	0.88376	D	0.654630552949266	0.76671	6.529412	0.629801407270462	0.77112	6.617446	0.99999927460909	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.586402	0.36253	0	.	.	4.62	4.62	0.56946	9.892000	0.98585	.	.	0.487000	0.22268	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.988	0.71018	902	0.24074	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1057.33	39	chr19	9962857	.	G	A	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.047;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr19	10005886	10005886	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon3:c.G347A:p.R116Q	.	.	.	.	.	.	.	.	.	.	.	4114719	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0098314192069	.	.	1.68e-05	0	0	0	0	1.526e-05	0	6.079e-05	1.29e-05	2	154602	rs759264339	2.6e-05	2.668e-05	2.314e-05	2.888e-05	3.147e-05	1.933e-05	1.692e-05	2.285e-05	2.022e-05	0	2.236e-05	0	0	0	0	3.147e-05	1.656e-05	1.159e-05	7.227e-05	7.223e-05	2.569e-05	0.0001	0.0003	3.971e-05	3.127e-05	8.876e-05	5.385e-05	7.237e-05	0	0.0003	0	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.452	0.36118	B	0.041	0.23986	B	0.000182	0.48115	U	0.085942	0.760068	0.29548	N	0.555	0.15161	N	4.43	0.02158	T	0.78	0.01921	N	0.098	0.07949	-1.0212	0.23324	T	0.004	0.01400	T	10	0.10822204	0.20136	T	0.009831	0.25631	T	0.122	0.33800	.	.	0.515828161817	0.51224	0.34025902985320655	0.33938	0.12052743132	0.13571	0.385649263859	0.23055	T	0.016777	0.13800	T	-0.375952	0.03303	T	-0.647354	0.09140	T	0.0946376547217369	0.11757	T	0.770523	0.40040	T	0.054407716	0.10434	0.063988455	0.12757	0.054407716	0.10434	0.063988455	0.12757	-4.063	0.24743	T	.	.	0.088	0.11606	B	.	.	2.285044	0.29223	18.05	0.25309420621729406	0.01161	0.61785	0.31586	D	AEFDBI	0.270327	0.38641	N	-0.349352166296775	0.27295	1.496452	-0.220047770321962	0.30817	1.738506	0.999992303032889	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.02	4.02	0.45968	2.590000	0.45819	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:1.0:0.0:0.0	11.537	0.49894	934	0.15400	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	783.33	70	chr19	10005886	.	C	T	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.772;SOR=0.76	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N,SHFL:NM_018381:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	166.94	111	chr19	10089677	.	G	C	166.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.657;DP=1634;ExcessHet=1.3;FS=278.301;InbreedingCoeff=-0.1758;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=-0.038;SOR=11.394	GT:AD:DP:GQ:PL	0/1:59,27:86:99:100,0,1421	13	0	5	1
chr19	10110993	10110993	G	A	exonic	PPAN;PPAN-P2RY11	.	nonsynonymous SNV	PPAN:NM_001346141:exon11:c.G1091A:p.R364Q,PPAN-P2RY11:NM_001040664:exon12:c.G1250A:p.R417Q,PPAN-P2RY11:NM_001198690:exon12:c.G1250A:p.R417Q,PPAN:NM_001346139:exon12:c.G1247A:p.R416Q,PPAN:NM_020230:exon12:c.G1250A:p.R417Q	.	418	1097	7	0	0	7	0.00318037	.	.	.	4020663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0069	0.00199681	0.0084	0.0008	0.0022	0	0.0161	0.0130	0.0067	0.0004	0.0078654	1216	154602	rs74406884	0.0081	0.0081	0.0082	0.0080	0.0087	0.0080	0.0079	0.0085	0.0085	0.0017	0.0029	0.0272	2.519e-05	0.0139	0.0029	0.0087	0.0086	0.0005	0.0072	0.0072	0.0068	0.0075	0.0102	0.0068	0.0067	0.0096	0.0093	0.0014	0	0.0046	0.0274	0	0.0145	0	0.0102	0.0062	0.0004	0.568	0.17126	T	0.337	0.18178	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.51	0.61677	T	-0.28	0.11547	N	0.07	0.09349	-1.0609	0.11532	T	0.058	0.24167	T	8	0.0029360354	0.00047	T	.	.	.	0.046	0.12618	.	.	0.0846915920261	0.08053	0.14836677046078955	0.14758	0.0774941032052	0.08717	.	.	.	0.04347	0.26512	T	-0.511701	0.00491	T	-0.495475	0.22818	T	0.00144275889447176	0.00014	T	0.444656	0.12799	T	0.026290843	0.01669	0.05348595	0.09018	0.026290843	0.01668	0.05348595	0.09018	-2.205	0.04064	T	.	.	0.092	0.14155	B	.;.;.;.	.;.;.;.	0.693041	0.10619	7.319	0.75895248164057005	0.11253	0.02021	0.06069	N	AEFDBCI	0.054771	0.09988	N	-1.64371025404103	0.01062	0.04607651	-1.74030537857526	0.00970	0.04346208	0.999999540168426	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	0.046	-0.093	0.12988	0.480000	0.21954	-1.210000	0.06016	-1.302000	0.01243	0.005000	0.17040	0.957000	0.29195	0.001000	0.02609	.	.	.	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001556	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1843.33	43	chr19	10110993	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=819;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.377;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr19	10113836	10113836	G	A	exonic	P2RY11;PPAN-P2RY11	.	nonsynonymous SNV	P2RY11:NM_002566:exon2:c.G223A:p.D75N,PPAN-P2RY11:NM_001040664:exon13:c.G1483A:p.D495N	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.145460056248	7.7e-05	.	4.172e-05	0	0	0	0	1.52e-05	0	0.0002	3.23e-05	5	154602	rs150970461	3.764e-05	3.831e-05	2.179e-05	5.365e-05	0.0003	2.961e-05	2.657e-05	0.0002	0.0002	0	0	0.0001	0	0	0	1.619e-05	0.0001	0.0003	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	0.169	0.29959	T	0.0	0.92824	D	0.961	0.55431	D	0.299	0.41006	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-2.38	0.88298	D	-0.81	0.75058	N	0.304	0.34336	-0.2035	0.77580	T	0.507	0.81435	D	9	0.3459301	0.51557	T	0.14546	0.82765	D	0.426	0.73372	.	.	0.741923070755	0.73960	0.5929934684258962	0.65889	0.053446376528	0.11683	.	.	.	0.222533	0.58641	T	-0.201574	0.20578	T	-0.227	0.52061	T	0.713914513587952	0.41393	D	0.714629	0.32694	T	0.24504805	0.47459	0.19306399	0.42854	0.24504805	0.47459	0.19306399	0.42853	-6.845	0.52893	T	.	.	0.167	0.36732	B	.;.	.;.	2.054654	0.26120	17.01	0.99244075584156133	0.56630	0.92191	0.55148	D	ALL	0.618874	0.60452	D	-0.0633775185359401	0.39008	2.293483	-0.168731493673491	0.32694	1.862619	0.999999999628948	0.74766	0.77792	0.99625	0	0.67197	0.64623	0	0.854111	0.99894	0	0.683535	0.66460	0	.	.	4.33	1.97	0.25278	6.591000	0.73975	5.867000	0.50493	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.1251:0.1838:0.6911:0.0	6.204	0.19805	929	0.16858	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.006993	0.000000	0.008621	0.000000	0.000000	0.02632	1829.33	34	chr19	10113836	.	G	A	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.93;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.6;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr19	10259663	10259665	GCT	-	exonic	MRPL4	.	nonframeshift deletion	MRPL4:NM_015956:exon9:c.786_788del:p.L263del,MRPL4:NM_146387:exon10:c.786_788del:p.L263del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.84e-07	0	1.378e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1747.29	47	chr19	10259662	.	CGCT	C	1747.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.488;DP=839;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=1.91;SOR=0.542	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr19	10288065	10288065	G	A	exonic	ICAM4	.	nonsynonymous SNV	ICAM4:NM_001039132:exon3:c.G700A:p.V234I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00693435395347	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs370615268	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0002	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	5.396e-06	6.623e-05	0.0001	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003448	0.00962	N	4.260870	1	0.21473	N	.	.	.	1.85	0.24472	T	0.02	0.06739	N	0.126	0.11912	-1.0168	0.24755	T	0.048	0.20513	T	9	0.054804623	0.05891	T	0.006934	0.18345	T	0.048	0.13305	0.202	0.11659	0.0482279557977	0.04254	0.09562541607459252	0.09494	0.554696742166	0.52201	0.315724611282	0.12774	T	.	.	.	-0.386583	0.02830	T	-0.556407	0.16716	T	0.484380602836609	0.32058	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	.	.	0.106	0.19720	B	.	.	1.018124	0.13976	10.54	0.96479692078929125	0.29967	0.11809	0.16875	N	ALL	0.033365	0.03942	N	-0.947452924547697	0.09749	0.4628218	-1.0258277621542	0.09219	0.457422	0.999999999996826	0.74766	0.676563	0.55306	0	0.609123	0.50646	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	3.77	1.62	0.22817	-0.083000	0.11250	0.216000	0.16018	-0.187000	0.09635	0.000000	0.06391	0.009000	0.19889	0.003000	0.05239	0.0:0.6527:0.2278:0.1196	5.138	0.14274	600	0.68026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1173.33	34	chr19	10288065	.	G	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=734;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.915;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	18	0	1	0
chr19	10292659	10292659	G	T	exonic	ICAM5	.	nonsynonymous SNV	ICAM5:NM_003259:exon5:c.G1009T:p.G337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0652331198197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002466	0.36499	N	0.196392	0.92732	0.36861	D	2.315	0.66250	M	1.73	0.26445	T	-5.81	0.88224	D	0.681	0.68777	-0.8782	0.49903	T	0.140	0.45997	T	10	0.7765175	0.77503	D	0.065233	0.69517	D	0.247	0.55478	0.5	0.59147	0.559044820595	0.55565	0.8160147931757253	0.81557	.	.	0.515936434269	0.41054	T	0.753344	0.93258	D	0.0247624	0.55023	T	-0.202207	0.54437	T	0.99676114320755	0.90032	D	0.814719	0.46890	T	0.39001384	0.60033	0.2037721	0.44469	0.39001384	0.60034	0.2037721	0.44468	-12.6	0.87650	D	.	.	0.383	0.58593	A	.	.	5.241953	0.88003	29.4	0.99528255792890974	0.69715	0.78119	0.38495	D	AEFDGBHCI	0.466581	0.51417	N	0.619579562704904	0.74415	6.128715	0.574661938812344	0.73129	5.920148	0.999999999980658	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	5.67	4.64	0.57399	2.098000	0.41383	11.769000	0.95814	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0932:0.0:0.9068:0.0	9.556	0.38506	604	0.67577	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1486.33	34	chr19	10292659	.	G	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.606;DP=811;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.723;SOR=0.604	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1304	18	0	1	0
chr19	10329009	10329009	G	A	exonic	RAVER1	.	nonsynonymous SNV	RAVER1:NM_001366174:exon3:c.C389T:p.T130M,RAVER1:NM_133452:exon3:c.C389T:p.T130M	.	.	.	.	.	.	.	.	.	.	.	4057716	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.0584580529094	.	.	3.184e-05	0	0	0	0	5.396e-05	0	0	3.23e-05	5	154602	rs764974110	4.562e-05	5.062e-05	4.995e-05	4.118e-05	0.0002	3.668e-05	3.342e-05	3.967e-05	3.559e-05	0	0	0	0	0	0.0002	5.044e-05	8.52e-05	4.887e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	3.055	0.86842	M	0.9	0.45248	T	-4.97	0.82063	D	0.652	0.67822	-0.3713	0.72922	T	0.298	0.66942	T	10	0.59286106	0.66478	D	0.058458	0.67324	D	0.433	0.73879	0.308	0.27967	0.484031237447	0.48032	0.5718056990765117	0.57108	1.90043783059	0.92813	0.801411032677	0.82178	T	0.272178	0.91394	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97482305765152	0.70671	D	0.974603	0.90967	D	0.57162344	0.71150	0.33901748	0.59672	0.57162344	0.71151	0.33901748	0.59672	-11.083	0.80111	D	.	.	0.627	0.78691	P	.;.;.;.	.;.;.;.	5.664556	0.92895	33	0.99921866884651012	0.98787	0.99075	0.90859	D	AEFDBCI	0.940705	0.94301	D	0.888057783344365	0.91163	10.74597	0.82788564679149	0.91660	11.00148	0.999999851120338	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.399000	0.96635	11.745000	0.95278	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.964	0.79740	764	0.49969	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2092.33	33	chr19	10329009	.	G	A	2092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.775;DP=792;ExcessHet=0;FS=4.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.77;SOR=0.409	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1359	18	0	1	0
chr19	10335167	10335167	G	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320608:exon3:c.C53G:p.T18R,ICAM3:NM_001320606:exon4:c.C605G:p.T202R,ICAM3:NM_002162:exon4:c.C836G:p.T279R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0116836842045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.062	0.45318	T	0.968	0.56581	D	0.753	0.56122	P	0.532982	0.05268	N	1.256450	1	0.08975	N	2.67	0.78151	M	3.36	0.05918	T	-2.47	0.53898	N	0.367	0.40864	-1.0071	0.27819	T	0.034	0.14596	T	10	0.21016195	0.37402	T	0.011684	0.29546	T	0.132	0.35948	0.545	0.65873	0.254761474806	0.25079	0.371018136369762	0.37015	1.06362718786	0.76556	0.2926671803	0.09312	T	0.059076	0.31016	T	-0.15093	0.28166	T	-0.454577	0.27192	T	0.597249507904053	0.36292	D	0.816118	0.47137	T	0.22767696	0.45473	0.1598645	0.37263	0.22767696	0.45473	0.1598645	0.37262	-6.067	0.46836	T	.	.	0.082	0.13597	B	.;.;.	.;.;.	1.084378	0.14677	11.23	0.97021139293420999	0.32026	0.09186	0.14992	N	ALL	0.077776	0.15676	N	-0.435948980272202	0.24219	1.306188	-0.716260931189455	0.16556	0.8763899	0.999999999999937	0.74766	0.72623	0.87236	0	0.697927	0.68747	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.61	-3.53	0.04369	-0.309000	0.08185	-0.431000	0.09221	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.106000	0.18562	0.3503:0.0:0.3666:0.2831	3.400	0.06897	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1874.33	33	chr19	10335167	.	G	C	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.417;DP=795;ExcessHet=0;FS=4.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.628;SOR=0.902	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1454	18	0	1	0
chr19	10338789	10338789	C	A	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.G236T:p.G79V,ICAM3:NM_001320606:exon2:c.G5T:p.G2V,ICAM3:NM_002162:exon2:c.G236T:p.G79V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	7.7e-05	0.00239617	0.0021	0.0002	8.64e-05	0	0	4.497e-05	0.0033	0.0148	0.0017917	277	154602	rs145741513	0.0009	0.0009	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0.0005	0.0149	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.216e-05	0	0	0	0	0	0	0.0001	0	0.0137	0.051	0.39334	T	0.091	0.51421	T	0.986	0.61523	D	0.937	0.67262	D	0.215770	0.16257	N	0.610776	0.857715	0.39861	D	2.83	0.82355	M	2.38	0.15843	T	-4.06	0.74582	D	0.468	0.50418	-0.9579	0.39571	T	0.104	0.38267	T	10	0.014370769	0.00302	T	.	.	.	0.254	0.56428	.	.	0.444807159249	0.44105	0.576087375340809	0.57537	1.38039980579	0.84761	0.282630443573	0.07862	T	0.159719	0.50327	T	-0.461828	0.00958	T	-0.423837	0.30635	T	0.128369536934514	0.15230	T	0.717128	0.33447	T	0.7390174	0.80236	0.51835674	0.72172	0.7390174	0.80237	0.51835674	0.72172	-6.636	0.51327	T	.	.	0.345	0.59904	A	.;.;.;.;.	.;.;.;.;.	3.053305	0.40982	21.3	0.99640036919943697	0.76571	0.65527	0.32767	D	AEFBCIJ	0.165513	0.29202	N	0.500712381227294	0.67131	5.041073	0.427046149151113	0.63254	4.555783	0.999996722917702	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.66	4.63	0.57175	1.438000	0.34612	2.392000	0.32546	0.533000	0.24879	0.958000	0.33488	0.987000	0.30940	0.150000	0.20306	0.0:0.9064:0.0:0.0936	9.537	0.38396	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	2317.33	38	chr19	10338789	.	C	A	2317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=1341;ExcessHet=0;FS=6.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.617;SOR=1.167	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1416	18	0	1	0
chr19	10339560	10339560	C	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon1:c.G55A:p.V19I,ICAM3:NM_002162:exon1:c.G55A:p.V19I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	7.7e-05	0.00239617	0.0022	0.0002	0.0002	0	0	9.094e-05	0.0045	0.0151	0.0018628	288	154602	rs148348101	0.0009	0.0009	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	0	0	0	2.519e-05	0	0.0009	2.878e-05	0.0005	0.0151	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.213e-05	0	0	0	0	0	0	5.88e-05	0	0.0137	0.331	0.13088	T	1.0	0.01155	T	0.012	0.16265	B	0.004	0.10090	B	0.042213	0.01902	N	2.631980	1	0.19599	N	1.36	0.34107	L	4.3	0.02437	T	-0.11	0.08653	N	0.032	0.00825	-0.9412	0.42426	T	0.008	0.02760	T	10	0.005120039	0.00111	T	.	.	.	0.032	0.07718	.	.	0.143124449307	0.13826	0.19154345286049587	0.19072	0.328158930332	0.34936	0.285743236542	0.08305	T	0.065251	0.32640	T	-0.72936	0.00024	T	-0.808127	0.01707	T	0.00756535430341179	0.00088	T	0.419458	0.11115	T	0.027059333	0.01845	0.022996616	0.00316	0.027059333	0.01845	0.022996616	0.00316	-4.357	0.28968	T	.	.	0.091	0.12891	B	.	.	-0.439759	0.02069	0.190	0.8623663793516213	0.16402	0.02677	0.07305	N	ALL	0.038696	0.05515	N	-1.32508684775682	0.03390	0.1513651	-1.39815435686502	0.03272	0.1522784	0.999999999993461	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.631631	0.49550	0	.	.	4.4	-6.04	0.01995	-0.394000	0.07357	-2.522000	0.03652	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.390000	0.26558	0.1201:0.2106:0.59:0.0793	7.966	0.29259	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.02632	953.33	34	chr19	10339560	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.016;DP=704;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.965;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	18	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	14	0	5	0
chr19	10351092	10351092	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385198:exon23:c.G3239A:p.R1080Q,TYK2:NM_001385199:exon23:c.G3203A:p.R1068Q,TYK2:NM_001385201:exon23:c.G3191A:p.R1064Q,TYK2:NM_001385200:exon24:c.G3386A:p.R1129Q,TYK2:NM_001385204:exon24:c.G3599A:p.R1200Q,TYK2:NM_001385205:exon24:c.G3299A:p.R1100Q,TYK2:NM_001385206:exon24:c.G3263A:p.R1088Q,TYK2:NM_001385207:exon24:c.G3371A:p.R1124Q,TYK2:NM_003331:exon24:c.G3389A:p.R1130Q,TYK2:NM_001385202:exon25:c.G3305A:p.R1102Q,TYK2:NM_001385203:exon25:c.G3470A:p.R1157Q	Immunodeficiency 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1952325	Immunodeficiency_35	MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.04087414089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291092209	4.788e-06	4.788e-06	5.445e-06	4.125e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.496e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.188	0.21304	T	0.32	0.19131	T	0.092	0.25296	B	0.017	0.18140	B	0.000288	0.46274	D	0.000000	0.576069	0.32334	D	0.57	0.15267	N	-1.63	0.82440	D	-0.52	0.16187	N	0.24	0.27077	-0.8388	0.52726	T	0.254	0.62383	T	10	0.1790511	0.33020	T	0.040874	0.59619	D	0.125	0.34456	0.35	0.34760	0.528561964389	0.52502	0.30397886774169053	0.30310	0.262614350035	0.28824	0.292206287384	0.09245	T	0.184575	0.53728	T	-0.117292	0.33568	T	-0.406259	0.32657	T	0.281880468130112	0.24250	T	0.882012	0.60217	D	0.20590441	0.42746	0.13614535	0.32578	0.20590441	0.42746	0.13614535	0.32577	-4.746	0.33956	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	1.569874	0.20101	14.59	0.99569271378290214	0.72258	0.12503	0.17308	N	AEFDBI	0.089008	0.18043	N	-0.665240008371037	0.17017	0.8721537	-0.562790453667867	0.20466	1.10281	1.4815321410974E-5	0.02871	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.78	1.26	0.20534	-0.189000	0.09625	-0.011000	0.13060	0.526000	0.24426	0.000000	0.06391	0.001000	0.17328	0.972000	0.54974	0.1455:0.6189:0.0:0.2356	5.183	0.14497	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	35	chr19	10351092	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=774;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.673;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	18	0	1	0
chr19	10359252	10359252	G	A	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385199:exon14:c.C1912T:p.R638W,TYK2:NM_001385201:exon14:c.C1900T:p.R634W,TYK2:NM_001385197:exon15:c.C2098T:p.R700W,TYK2:NM_001385198:exon15:c.C2098T:p.R700W,TYK2:NM_001385200:exon15:c.C2098T:p.R700W,TYK2:NM_001385203:exon15:c.C2098T:p.R700W,TYK2:NM_001385204:exon15:c.C2098T:p.R700W,TYK2:NM_001385205:exon15:c.C2008T:p.R670W,TYK2:NM_001385206:exon15:c.C1972T:p.R658W,TYK2:NM_001385207:exon15:c.C2080T:p.R694W,TYK2:NM_003331:exon15:c.C2098T:p.R700W,TYK2:NM_001385202:exon16:c.C2014T:p.R672W	Immunodeficiency 35, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.688951514796	.	.	3.527e-05	0	0	0.0004	0.0002	0	0	0	2.59e-05	4	154602	rs766131781	4.18e-05	4.446e-05	5.455e-05	2.893e-05	0.0005	3.316e-05	3.006e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	1.96e-05	0.0002	3.148e-05	3.313e-05	1.16e-05	2.629e-05	2.626e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.79672	D	0.004791	0.33389	N	0.127944	0.999918	0.58761	D	2.765	0.80766	M	-1.87	0.84415	D	-4.95	0.81910	D	0.734	0.73916	0.700	0.93175	D	0.770	0.92167	D	10	0.8909832	0.88440	D	0.688952	0.97436	D	0.638	0.86181	0.675	0.81299	0.866428657405	0.86512	0.6404422011368099	0.63979	0.956637058499	0.72843	0.452429115772	0.32276	T	0.629162	0.89423	D	-0.117035	0.33611	T	-0.0428557	0.67508	D	0.588689438836838	0.35955	D	0.955004	0.88094	D	0.56761074	0.70929	0.48864645	0.70411	0.56761074	0.70930	0.48864645	0.70411	-12.718	0.88168	D	.	.	0.135	0.41873	B	.;.;.;.	.;.;.;.	4.755712	0.76843	26.6	0.99925941479507341	0.99042	0.98409	0.82480	D	AEFDBI	0.703701	0.65965	D	0.655337625050763	0.76717	6.537889	0.560642212316703	0.72141	5.763255	0.999942527502328	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	2.536000	0.45351	8.435000	0.77180	0.639000	0.52094	0.892000	0.31242	1.000000	0.68203	0.043000	0.14563	0.0:0.0:1.0:0.0	15.825	0.78473	769	0.49307	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1347.33	36	chr19	10359252	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=773;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.686;SOR=0.812	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1465	18	0	1	0
chr19	10366456	10366456	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon6:c.G590A:p.R197H,TYK2:NM_001385198:exon6:c.G590A:p.R197H,TYK2:NM_001385199:exon6:c.G590A:p.R197H,TYK2:NM_001385200:exon6:c.G590A:p.R197H,TYK2:NM_001385201:exon6:c.G590A:p.R197H,TYK2:NM_001385202:exon6:c.G590A:p.R197H,TYK2:NM_001385203:exon6:c.G590A:p.R197H,TYK2:NM_001385204:exon6:c.G590A:p.R197H,TYK2:NM_001385205:exon6:c.G590A:p.R197H,TYK2:NM_001385206:exon6:c.G590A:p.R197H,TYK2:NM_001385207:exon6:c.G590A:p.R197H,TYK2:NM_003331:exon6:c.G590A:p.R197H	Immunodeficiency 35, Autosomal recessive	2	1515	4	1	0	6	0.00197628	.	.	.	332375	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0090	0.00938498	0.0027	0.0278	0.0015	0	0	0.0003	0.0022	6.059e-05	0.0026714	413	154602	rs12720263	0.0011	0.0011	0.0012	0.0010	0.0273	0.0011	0.0010	0.0258	0.0252	0.0273	0.0023	0	0	0	0.0016	0.0004	0.0024	0.0003	0.0080	0.0080	0.0081	0.0078	0.0268	0.0076	0.0074	0.0255	0.0249	0.0268	0	0.0039	0	0	0	0.0034	0.0004	0.0047	0.0006	0.09	0.32610	T	0.104	0.39799	T	0.004	0.19866	B	0.002	0.10090	B	0.023890	0.01601	N	2.277090	1	0.08975	N	0.255	0.09829	N	0.94	0.75553	T	0.1	0.05810	N	0.053	0.02462	-0.9303	0.44095	T	0.058	0.24279	T	10	0.0028371513	0.00045	T	.	.	.	0.031	0.07369	.	.	0.428401797576	0.42457	0.06138609372846985	0.06078	0.32854930742	0.34960	0.193035632372	0.00283	T	0.08764	0.37986	T	-0.558309	0.00260	T	-0.554477	0.16898	T	0.00324237652524948	0.00034	T	0.388561	0.18203	T	0.03545375	0.04175	0.029415097	0.01278	0.04159482	0.06155	0.025592467	0.00610	-6.448	0.49884	T	.	.	0.069	0.04119	B	.;.;.;.	.;.;.;.	0.533609	0.09024	5.805	0.93250761938266413	0.22940	0.02345	0.06697	N	AEFDGBI	0.059691	0.11293	N	-1.40260577300493	0.02616	0.115762	-1.46404052651719	0.02645	0.1220416	0.998350821569065	0.36814	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-5.61	0.02291	-1.953000	0.01617	-1.076000	0.06405	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.3714:0.1102:0.5184	7.907	0.28932	764	0.49969	FERM domain|Band 4.1 domain;FERM domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	955.33	35	chr19	10366456	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=769;ExcessHet=0;FS=2.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.851;SOR=0.446	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1313	18	0	1	0
chr19	10378250	10378250	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon3:c.G157A:p.A53T,TYK2:NM_001385198:exon3:c.G157A:p.A53T,TYK2:NM_001385199:exon3:c.G157A:p.A53T,TYK2:NM_001385200:exon3:c.G157A:p.A53T,TYK2:NM_001385201:exon3:c.G157A:p.A53T,TYK2:NM_001385202:exon3:c.G157A:p.A53T,TYK2:NM_001385203:exon3:c.G157A:p.A53T,TYK2:NM_001385204:exon3:c.G157A:p.A53T,TYK2:NM_001385205:exon3:c.G157A:p.A53T,TYK2:NM_001385206:exon3:c.G157A:p.A53T,TYK2:NM_001385207:exon3:c.G157A:p.A53T,TYK2:NM_003331:exon3:c.G157A:p.A53T	Immunodeficiency 35, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	377042	not_specified|Immunodeficiency_35|not_provided	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.458	.	0.0084	0.00379393	0.0080	0.0023	0.0038	0.0002	0.0050	0.0108	0.0113	0.0085	0.0078848	1219	154602	rs55762744	0.0095	0.0095	0.0095	0.0095	0.0108	0.0094	0.0093	0.0106	0.0106	0.0012	0.0037	0.0052	2.519e-05	0.0054	0.0106	0.0108	0.0075	0.0086	0.0072	0.0072	0.0073	0.0072	0.0116	0.0069	0.0067	0.0109	0.0106	0.0018	0	0.0063	0.0058	0.0002	0.0052	0.0408	0.0116	0.0080	0.0083	0.033	0.91255	D	0.004	0.74150	D	0.997	0.90584	D	0.922	0.97372	D	0.000206	0.47681	D	0.000000	0.994144	0.81001	D	2.87	0.83286	M	-0.89	0.74793	T	-3.24	0.67824	D	0.631	0.68950	0.014	0.82533	D	0.449	0.78396	T	10	0.0094073415	0.00212	T	.	.	.	0.458	0.75619	.	.	0.832408338325	0.83081	0.8213217367268504	0.82089	0.924448990043	0.71586	0.603025615215	0.53331	T	0.33245	0.70241	T	-0.262517	0.12608	T	-0.140469	0.60077	T	0.0123459108572886	0.00201	T	0.875712	0.60074	D	0.4009338	0.60797	0.26869807	0.52742	0.29724216	0.52656	0.28160226	0.54142	-7.226	0.55668	T	.	.	0.158	0.48008	B	.;.;.;.;.	.;.;.;.;.	4.159109	0.62453	24.5	0.99820100130271594	0.90326	0.93084	0.57286	D	AEFDBHI	0.402883	0.47679	N	0.344370839548131	0.58443	4.016571	0.20844889128397	0.50315	3.224917	0.999479541824851	0.39898	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.499000	0.60101	7.532000	0.59933	0.563000	0.28513	0.994000	0.38300	1.000000	0.68203	0.085000	0.17524	0.0:1.0:0.0:0.0	13.480	0.60782	809	0.43032	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain;.	KANK2	Heart_Atrial_Appendage	TYK2|TYK2|TYK2|TYK2|TYK2	Adipose_Subcutaneous|Artery_Aorta|Lung|Skin_Sun_Exposed_Lower_leg|Spleen	rs55762744	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012121	0.000000	0.010870	0.008772	0.000000	0.025862	0.018519	0.015267	0.05263	4448.83	33	chr19	10378250	.	C	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.385;SOR=0.686	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	17	0	2	0
chr19	10446256	10446256	G	A	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001111307:exon2:c.G359A:p.R120H,PDE4A:NM_001111308:exon2:c.G281A:p.R94H,PDE4A:NM_001111309:exon2:c.G176A:p.R59H,PDE4A:NM_001243121:exon4:c.G293A:p.R98H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.169901205273	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199602831	8.317e-06	8.209e-06	4.13e-06	1.256e-05	0.0002	4.44e-06	3.5e-06	9.898e-05	7.045e-05	0.0002	0	0	0	0	0	4.532e-06	0	0	5.256e-05	5.254e-05	2.57e-05	8.069e-05	0.0001	2.557e-05	1.83e-05	6.283e-05	4.299e-05	0.0001	0.0011	6.547e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.043	0.52060	D	0.064	0.64738	B	0.035	0.56370	B	0.000824	0.00693	N	3.991490	0.999991	0.58761	D	2.23	0.63091	M	-0.56	0.87512	T	-3.93	0.73267	D	0.324	0.36989	-0.5651	0.66208	T	0.452	0.78562	T	10	0.30179718	0.47720	T	0.169901	0.84760	D	0.365	0.68495	.	.	0.929748030895	0.92902	.	.	.	.	0.841088116169	0.88260	D	0.336291	0.70581	T	0.173492	0.71444	D	0.0468305	0.73375	D	0.978601932525635	0.72409	D	0.972478	0.91282	D	0.19037361	0.40619	0.11382769	0.27474	0.19037361	0.40619	0.11382769	0.27473	-4.236	0.32310	T	.	.	0.097	0.35788	B	.;.;.;.	.;.;.;.	4.058356	0.60212	24.2	0.999435945049993	0.99848	0.96229	0.68129	D	AEFDBI	0.910935	0.86952	D	0.186424460048609	0.50548	3.243697	0.218903781577457	0.50897	3.277035	0.999996379953219	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	4.1	4.1	0.47196	7.952000	0.87328	9.243000	0.79436	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:1.0:0.0	13.891	0.63238	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	695.33	34	chr19	10446256	.	G	A	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=675;ExcessHet=0;FS=4.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.093;SOR=0.213	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1300	18	0	1	0
chr19	10467443	10467443	C	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon10:c.C1766T:p.S589F,PDE4A:NM_001111307:exon15:c.C2483T:p.S828F,PDE4A:NM_001111308:exon15:c.C2405T:p.S802F,PDE4A:NM_001111309:exon15:c.C2300T:p.S767F,PDE4A:NM_001243121:exon17:c.C2417T:p.S806F	.	407	1112	3	0	0	3	0.0013471	.	.	.	2689273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0354175692321	0.0002	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0012	0.0002458	38	154602	rs200707536	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0008	0.0007	0	0	0.0047	0	0	0.0009	2.159e-05	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.996e-05	2.405e-05	0	0	0.0066	0	0	0	5.88e-05	0	0.0006	0.105	0.31682	T	0.03	0.55759	D	0.001	0.12183	B	0.001	0.10090	B	0.000023	0.00348	N	26.848000	1	0.08975	N	0.55	0.14455	N	-0.23	0.67011	T	-0.84	0.24026	N	0.166	0.17553	-0.9207	0.45458	T	0.182	0.53026	T	10	0.0053625405	0.00118	T	0.035418	0.56331	D	0.082	0.23913	.	.	0.20808081866	0.20439	.	.	.	.	0.416911005974	0.27413	T	0.03721	0.24390	T	-0.454446	0.01063	T	-0.514712	0.20832	T	0.00529995601053614	0.00057	T	0.772323	0.40326	T	0.076765835	0.17381	0.06534811	0.13232	0.076765835	0.17380	0.06534811	0.13232	-5.77	0.44930	T	.	.	0.181	0.39408	B	.;.;.;.;.	.;.;.;.;.	1.941403	0.24657	16.48	0.85041523501616789	0.15649	0.04631	0.10296	N	AEFDBI	0.082061	0.16612	N	-0.937322620709739	0.09978	0.4747473	-0.963556982038824	0.10609	0.5354542	7.17021292329838E-4	0.07685	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.97	1.8	0.24069	0.068000	0.14398	0.246000	0.16368	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.159000	0.20615	0.0:0.7691:0.0:0.2309	6.398	0.20825	707	0.57054	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1906.33	33	chr19	10467443	.	C	T	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=763;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.29;SOR=0.838	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1248	18	0	1	0
chr19	10514162	10514162	C	T	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.G850A:p.V284I,S1PR5:NM_030760:exon2:c.G850A:p.V284I	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0008	0.00479233	0.0050	0.0003	0.0003	0.0174	0.0389	0.0025	0.0193	0.0020	0.0040491	626	154602	rs150461309	0.0031	0.0031	0.0031	0.0031	0.0335	0.0030	0.0030	0.0320	0.0314	5.978e-05	0.0007	0.0010	0.0335	0.0365	0.0038	0.0008	0.0030	0.0018	0.0048	0.0048	0.0029	0.0068	0.0216	0.0045	0.0044	0.0184	0.0172	0.0002	0	0.0023	0.0003	0.0216	0.0441	0	0.0012	0.0033	0.0029	1.0	0.00964	T	1.0	0.03296	T	0.045	0.21781	B	0.021	0.19346	B	0.089285	0.20435	U	0.440276	0.999994	0.08975	N	-0.415	0.02918	N	1.23	0.36872	T	0.17	0.05125	N	0.078	0.05287	-1.0134	0.25848	T	0.014	0.05608	T	10	0.0031430721	0.00053	T	.	.	.	0.046	0.12618	.	.	0.531531992086	0.52802	0.32803289889116455	0.32716	.	.	0.648723840714	0.59804	T	0.033523	0.22947	T	-0.654708	0.00068	T	-0.700246	0.05813	T	0.00794326790643292	0.00094	T	0.652235	0.26282	T	0.061632678	0.12783	0.03606189	0.02977	0.061632678	0.12782	0.03606189	0.02977	-6.549	0.50663	T	.	.	0.099	0.26232	B	.;.;.	.;.;.	1.992013	0.25307	16.72	0.83038261321540119	0.14509	0.06877	0.12903	N	AEFDBCI	0.080054	0.16180	N	-1.11962483273056	0.06294	0.2893701	-1.04034974972405	0.08909	0.4404267	0.976464743820542	0.29727	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.21	1.84	0.24348	-0.655000	0.05447	3.954000	0.40696	0.465000	0.21702	0.000000	0.06391	0.999000	0.35428	0.947000	0.49155	0.147:0.4824:0.143:0.2276	1.722	0.02738	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	rs150461309	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05263	3525.81	120	chr19	10514162	.	C	T	3525.81	.	AC=2;AF=0.053;AN=38;DP=889;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.38;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	1	0	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D,ATG4D:NM_032885:exon8:c.G1122C:p.E374D	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0033	0.0005563	86	154602	rs141346756	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0033	0.0032	0	0.0002	0.0001	0	0	0.0040	0.0001	0.0005	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0	0.0003	0	0	0	0.0002	0.0005	0.0031	0.025	0.47320	D	0.118	0.59159	T	0.392	0.34646	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.465	0.36909	L	0.99	0.41750	T	-1.99	0.45949	N	0.553	0.57860	-1.0952	0.04723	T	0.084	0.32843	T	10	0.016469032	0.00347	T	0.023869	0.46847	T	0.202	0.48754	0.542	0.65446	0.458101713262	0.45433	0.403865083192334	0.40302	0.981003695399	0.73741	0.661559700966	0.61633	T	0.061153	0.31577	T	-0.405011	0.02146	T	-0.356336	0.38476	T	0.0440389193697354	0.04428	T	0.925307	0.72522	D	0.5230501	0.68434	0.35204622	0.60789	0.5230501	0.68435	0.35204622	0.60788	-7.826	0.59879	D	.	.	0.305	0.54616	B	.;.;.	.;.;.	4.653263	0.74205	26.1	0.99712663118766443	0.81423	0.95848	0.66412	D	AEFDGBHCI	0.951781	0.96665	D	-0.15424566245146	0.35055	2.008676	-0.0828658949234684	0.36099	2.096491	0.999999999811327	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.17	4.12	0.47504	7.096000	0.76614	8.309000	0.76944	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8489:0.1511	14.217	0.65341	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	1400.33	39	chr19	10552121	.	G	C	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.883;DP=818;ExcessHet=0;FS=2.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.124;SOR=0.577	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr19	10559668	10559668	C	T	exonic	KRI1	.	nonsynonymous SNV	KRI1:NM_023008:exon11:c.G968A:p.R323H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0231981480108	0.0007	0.00119808	0.0003	0.0034	8.645e-05	0	0	2.999e-05	0	6.056e-05	0.0003363	52	154602	rs141486227	0.0001	0.0001	0.0001	0.0001	0.0035	9.805e-05	9.221e-05	0.0030	0.0028	0.0035	0.0004	0	0	0	0	5.396e-06	0.0004	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0007	0	0	0	0	1.471e-05	0.0005	0	0.013	0.53900	D	0.052	0.47581	T	.	.	.	.	.	.	0.003728	0.34560	N	0.257927	0.713764	0.29988	N	.	.	.	2.86	0.10482	T	-4.07	0.74661	D	0.317	0.35727	-0.8973	0.48264	T	0.075	0.30272	T	10	0.011228055	0.00246	T	0.023198	0.46147	T	0.075	0.21907	.	.	0.572896914645	0.56956	.	.	0.273545580838	0.29852	0.45495980978	0.32622	T	.	.	.	-0.455804	0.01043	T	-0.428664	0.30086	T	0.0951481585420156	0.11815	T	0.927407	0.73262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.605398	0.72986	25.9	0.99947579161323352	0.99923	0.93145	0.57443	D	AEFBI	0.364329	0.45291	N	0.507103092892915	0.67509	5.091135	0.414402288724851	0.62461	4.461907	0.972336706179464	0.29362	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.21	0.48984	3.377000	0.52156	3.275000	0.37188	0.549000	0.26987	0.660000	0.28260	0.998000	0.33993	0.741000	0.35472	0.0:0.9198:0.0:0.0802	13.143	0.58865	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1123.33	40	chr19	10559668	.	C	T	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.231;DP=1044;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.131;SOR=0.934	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	18	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F,SLC44A2:NM_001363611:exon7:c.C457T:p.L153F,SLC44A2:NM_020428:exon7:c.C457T:p.L153F	.	420	1086	14	2	0	18	0.00821918	.	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.025253	0.010870	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	2398.33	132	chr19	10631490	.	C	T	2398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=2053;ExcessHet=0;FS=2.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.51;ReadPosRankSum=-1.847;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:99:.:.:0,120,1800:.	18	0	1	0
chr19	10687390	10687390	G	A	exonic	ILF3	.	nonsynonymous SNV	ILF3:NM_012218:exon18:c.G2104A:p.G702S,ILF3:NM_017620:exon18:c.G2116A:p.G706S	.	429	1069	21	3	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0180897248204	0.0027	0.000798722	0.0034	0.0004	0.0019	0	0.0004	0.0054	0.0065	0.0008	0.0030142	466	154602	rs200928937	0.0028	0.0028	0.0029	0.0028	0.0166	0.0028	0.0027	0.0137	0.0126	0.0008	0.0029	0.0198	0	0.0008	0.0166	0.0026	0.0051	0.0010	0.0025	0.0025	0.0025	0.0025	0.0046	0.0023	0.0022	0.0038	0.0035	0.0005	0	0.0046	0.0216	0	0.0004	0.0068	0.0029	0.0043	0.0008	0.256	0.16793	T	0.037	0.51737	D	1.0	0.90584	D	0.987	0.77487	D	0.086124	0.20604	N	0.501216	0.581031	0.31099	N	0.895	0.22405	L	2.58	0.13434	T	0.11	0.05706	N	0.397	0.44187	-1.1387	0.01407	T	0.052	0.22153	T	10	0.007963777	0.00181	T	0.01809	0.40035	T	0.086	0.25016	.	.	0.63116510682	0.62815	0.21223151268231025	0.21139	0.309918074836	0.33302	0.461486816406	0.33515	T	0.185931	0.53906	T	-0.495792	0.00604	T	-0.486103	0.23801	T	0.0452670708221947	0.04650	T	0.761924	0.38711	T	0.061783712	0.12834	0.061892174	0.12024	0.061783712	0.12833	0.061892174	0.12023	-5.15	0.38789	T	.	.	0.069	0.03515	B	.;.;.	.;.;.	3.636222	0.51531	23.1	0.96031580595347221	0.28506	0.80585	0.40184	D	AEFDBCI	0.290847	0.40212	N	0.349802305639975	0.58730	4.047036	0.327860217749199	0.57182	3.883211	0.99994976792358	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.59	3.52	0.39415	4.634000	0.61023	9.397000	0.80618	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1169:0.0:0.8831:0.0	9.102	0.35837	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008891	0.000000	0.004087	0.021875	0.000000	0.000000	0.019355	0.003906	0.05263	3714.83	34	chr19	10687390	.	G	A	3714.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=804;ExcessHet=0.119;FS=1.161;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.73;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,946	17	0	2	0
chr19	10863205	10863205	G	A	exonic	C19orf38	.	nonsynonymous SNV	C19orf38:NM_001136482:exon6:c.G541A:p.A181T	.	.	.	.	.	.	.	.	0	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00258467868461	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs574601210	3.431e-05	3.352e-05	2.398e-05	4.492e-05	0.0014	2.657e-05	2.35e-05	0.0007	0.0005	0	0	0	2.799e-05	2.029e-05	0.0014	8.343e-06	5.173e-05	0.0003	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0004	5.24e-06	2.45e-06	7.307e-05	3.035e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0004	0.535	0.06913	T	0.919	0.02882	T	.	.	.	.	.	.	0.145690	0.02921	N	2.563250	1	0.08975	N	.	.	.	.	.	.	-0.25	0.11008	N	0.079	0.05414	-1.0617	0.11336	T	0.019	0.08033	T	9	0.015024662	0.00315	T	0.002585	0.05206	T	0.023	0.04649	0.123	0.02942	0.0138822411134	0.00435	0.05775924392393729	0.05716	.	.	.	.	.	.	.	.	-0.60436	0.00137	T	-0.779957	0.02454	T	0.00680141619178439	0.00077	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03301	B	.;.	.;.	-0.700457	0.01320	0.072	0.23221334420779902	0.00971	0.00531	0.02459	N	AEFDBHCIJ	0.048211	0.08203	N	-1.79409909006748	0.00560	0.02410745	-1.75137431272525	0.00928	0.04152606	0.999999945376341	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	-1.98	0.07070	-0.120000	0.10633	0.176000	0.15576	-1.710000	0.00744	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3591:0.1596:0.3062:0.1752	0.833	0.01062	538	0.73119	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2286.81	73	chr19	10863205	.	G	A	2286.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.33;SOR=0.898	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	18	1	0	0
chr19	10923874	10923874	A	G	exonic	YIPF2	.	nonsynonymous SNV	YIPF2:NM_001321440:exon6:c.T493C:p.C165R,YIPF2:NM_001321439:exon7:c.T610C:p.C204R,YIPF2:NM_024029:exon7:c.T610C:p.C204R	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.128446961157	.	.	1.82e-05	0	0	0	0	3.281e-05	0	0	1.29e-05	2	154602	rs753829429	1.095e-05	1.094e-05	6.81e-06	1.513e-05	0.0002	6.48e-06	5.25e-06	2.196e-05	1.431e-05	0	0	0	0	0	0.0002	8.096e-06	1.657e-05	5.804e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.043526	1	0.81001	D	3.52	0.92970	H	0.95	0.44856	T	-11.15	0.99356	D	0.831	0.82660	-0.5348	0.67360	T	0.283	0.65468	T	10	0.9874712	0.99115	D	0.128447	0.81038	D	0.595	0.83911	0.905	0.97985	0.362758974969	0.35886	0.9559444501808454	0.95579	0.718172578876	0.62081	0.778898239136	0.78761	T	0.428741	0.77777	T	0.150579	0.69323	D	0.160048	0.80809	D	0.994489312171936	0.85802	D	0.953905	0.82456	D	0.93200105	0.94437	0.8780677	0.93426	0.93200105	0.94438	0.8780677	0.93427	-12.902	0.88955	D	.	.	0.957	0.88748	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.005744	0.59058	24.1	0.96099941516956389	0.28709	0.98718	0.85968	D	AEFDBHCI	0.930796	0.91865	D	0.324154284537134	0.57391	3.906214	0.176524242954016	0.48565	3.070615	0.990578569750041	0.32199	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	3.47	0.38831	6.237000	0.72297	6.877000	0.56803	-0.089000	0.16174	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.7317:0.0:0.0:0.2683	10.080	0.41556	511	0.75131	Yip1 domain;Yip1 domain;.;.;.;Yip1 domain;Yip1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1084.33	35	chr19	10923874	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.757;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.004;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1422	18	0	1	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon4:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_001374457:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	0	1497	24	1	0	26	0.00860927	.	.	.	138990	not_provided|Intellectual_disability,_autosomal_dominant_16|Rhabdoid_tumor_predisposition_syndrome_2|Hereditary_cancer-predisposing_syndrome|Coffin-Siris_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004065	0.000000	0.008219	0.000000	0.000000	0.008772	0.000000	0.007576	0.02632	1326.33	33	chr19	10986422	.	C	T	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=811;ExcessHet=0;FS=2.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.587;SOR=0.893	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	18	0	1	0
chr19	11217044	11217044	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon30:c.C3764T:p.A1255V,DOCK6:NM_001367830:exon31:c.C3869T:p.A1290V	Adams-Oliver syndrome 2, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	1891151	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0112355276721	7.9e-05	0.000399361	0.0001	0.0001	0	0.0001	0	0	0	0.0007	0.0001035	16	154602	rs200408941	4.654e-05	4.652e-05	3.677e-05	5.64e-05	0.0004	3.729e-05	3.413e-05	0.0003	0.0002	2.987e-05	0	0	2.519e-05	0	0	2.698e-05	8.283e-05	0.0004	5.908e-05	5.905e-05	8.991e-05	2.685e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0003	9.619e-05	0	0	0	0	0	0	0	0	0.0010	0.677	0.04469	T	0.795	0.04129	T	0.0	0.02946	B	0.001	0.04355	B	0.010075	0.30079	N	0.311931	0.992319	0.24530	N	-0.85	0.01485	N	1.97	0.22067	T	1.22	0.01051	N	0.014	0.00160	-0.9594	0.39293	T	0.018	0.07282	T	10	0.026847184	0.00842	T	0.011236	0.28661	T	0.060	0.17295	.	.	0.236890367714	0.23314	0.21095686573238645	0.21011	0.178572700979	0.20092	0.365219682455	0.20143	T	0.017759	0.14435	T	-0.603395	0.00139	T	-0.743717	0.03736	T	0.0218440388527424	0.00891	T	0.866813	0.56740	D	0.013731073	0.00068	0.029499168	0.01294	0.013731073	0.00068	0.029499168	0.01294	-1.841	0.02634	T	.	.	0.072	0.04080	B	.	.	1.800962	0.22893	15.80	0.85973657275548832	0.16231	0.45594	0.27573	N	AEFBI	0.067467	0.13265	N	-0.662179789578325	0.17106	0.8774574	-0.482150494899776	0.22645	1.231027	4.38106211166696E-4	0.06970	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.89	1.59	0.22622	3.561000	0.53515	.	.	0.618000	0.50648	1.000000	0.71638	0.065000	0.22112	0.491000	0.28814	0.8573:0.0:0.1427:0.0	8.846	0.34329	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5207.81	175	chr19	11217044	.	G	A	5207.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.02;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=29.76;ReadPosRankSum=0.716;SOR=1.052	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	1	0	0
chr19	11221944	11221944	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.G3457A:p.A1153T,DOCK6:NM_001367830:exon29:c.G3562A:p.A1188T	Adams-Oliver syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1377359	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00525397871955	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs776543777	2.395e-05	2.394e-05	3.268e-05	1.513e-05	0.0002	1.739e-05	1.539e-05	1.83e-05	1.582e-05	5.974e-05	2.236e-05	3.826e-05	0	0	0.0002	2.608e-05	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.392	0.10766	T	0.433	0.13595	T	0.001	0.07471	B	0.001	0.04355	B	0.114474	0.19274	N	0.525527	1	0.08975	N	0.5	0.13406	N	2.67	0.12473	T	-0.51	0.15986	N	0.06	0.03175	-1.0146	0.25464	T	0.033	0.14029	T	10	0.03733045	0.02081	T	0.005254	0.13402	T	0.014	0.01968	0.29	0.25081	0.17948927462	0.17512	0.1311713617126628	0.13042	0.17338185284	0.19527	0.29049038887	0.08993	T	0.013491	0.11662	T	-0.480089	0.00738	T	-0.844526	0.01033	T	0.0168630901589294	0.00439	T	0.70183	0.31167	T	0.014892674	0.00112	0.03608822	0.02986	0.014892674	0.00112	0.03608822	0.02986	-6.12	0.47273	T	.	.	0.065	0.01859	B	.	.	-0.654020	0.01431	0.085	0.88612529584496569	0.18115	0.05461	0.11341	N	AEFBI	0.069141	0.13670	N	-1.12037817456886	0.06281	0.2887251	-1.14729500225578	0.06816	0.3294078	8.78737137862639E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.65	0.041	0.13528	-1.524000	0.02337	.	.	-0.987000	0.01865	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5717:0.0:0.4283	8.481	0.32201	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1238.33	39	chr19	11221944	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=744;ExcessHet=0;FS=5.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.88;SOR=0.321	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S,DOCK6:NM_020812:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	0	1481	38	3	0	44	0.0146374	.	.	.	514258	DOCK6-related_disorder|not_provided|Adams-Oliver_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004184	0.000000	0.005698	0.008929	0.000000	0.000000	0.003205	0.003937	0.02632	2907.33	73	chr19	11236849	.	C	T	2907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=976;ExcessHet=0;FS=1.014;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=2.55;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	18	0	1	0
chr19	11252958	11252958	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon3:c.G133A:p.V45I,DOCK6:NM_020812:exon3:c.G133A:p.V45I	Adams-Oliver syndrome 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	0.7657	0.554	.	727891	Bone_Paget_disease|DOCK6-related_disorder|not_provided|Intellectual_disability	Human_Phenotype_Ontology:HP:0034159,MONDO:MONDO:0005382,MedGen:C0029401,OMIM:PS167250,Orphanet:280110|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	.	0.0020	0.00119808	0.0025	0.0002	0.0017	0	0.0003	0.0029	0	0.0045	0.0016041	248	154602	rs183060698	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0026	0.0025	0.0002	0.0010	0.0051	2.548e-05	0.0004	0.0002	0.0022	0.0020	0.0029	0.0014	0.0014	0.0016	0.0013	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0004	0.0052	0	0.0006	0.0034	0.0023	0.0019	0.0021	0.373	0.11442	T	0.146	0.32891	T	0.132	0.27209	B	0.05	0.25278	B	0.286628	0.14845	N	0.581626	0.999446	0.47080	D	0.65	0.16133	N	2.61	0.13095	T	-0.33	0.12472	N	0.178	0.19190	-1.0224	0.22932	T	0.019	0.07986	T	10	0.007945746	0.00180	T	0.007689	0.20404	T	0.051	0.14325	.	.	0.252162846088	0.24830	0.13591354136941314	0.13515	0.160741876183	0.18148	0.462928891182	0.33712	T	0.007154	0.06566	T	-0.641458	0.00082	T	-0.697865	0.05943	T	0.0112675946637516	0.00166	T	0.857914	0.54791	D	0.07884022	0.17977	0.06831415	0.14250	0.06645308	0.14300	0.057968765	0.10632	-4.432	0.29988	T	.	.	0.098	0.16187	B	.	.	4.048498	0.59987	24.2	0.9942266448115552	0.63838	0.91579	0.53824	D	AEFBI	0.278391	0.39269	N	-0.23901401373882	0.31545	1.769838	-0.0704514433709557	0.36618	2.133321	0.99999505616032	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	4.65	4.65	0.57626	2.439000	0.44504	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	16.291	0.82583	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.002717	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	678.33	34	chr19	11252958	.	C	T	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.658;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.295;SOR=0.604	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	11350957	11350957	C	G	exonic	CCDC159	.	nonsynonymous SNV	CCDC159:NM_001080503:exon5:c.C376G:p.R126G	.	393	1126	3	0	0	3	0.00133038	.	.	.	2213536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0378112998232	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs540037522	5.707e-05	5.746e-05	6.197e-05	5.204e-05	0.0009	4.668e-05	4.325e-05	0.0003	0.0002	0	8.333e-05	0	5.56e-05	0	0.0009	5.643e-05	0.0001	3.781e-05	5.255e-05	5.25e-05	2.571e-05	8.061e-05	0.0002	2.557e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0	0	0.0002	0	0.0034	8.821e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.65	0.52642	T	-2.26	0.50502	N	0.311	0.35088	-0.8897	0.48960	T	0.208	0.56785	T	9	0.12535357	0.23821	T	0.037811	0.57842	D	0.175	0.44197	.	.	0.40318662893	0.39936	0.1412183228681275	0.14044	0.481733051228	0.47150	0.354570448399	0.18592	T	.	.	.	-0.210082	0.19368	T	-0.334039	0.41019	T	0.111858493097889	0.13615	T	0.751225	0.37284	T	0.2457368	0.47535	0.2518081	0.50798	0.2457368	0.47534	0.2518081	0.50797	-4.55	0.31538	T	.	.	0.225	0.45702	B	.;.;.;.;.	.;.;.;.;.	2.438928	0.31384	18.73	0.98968582642486547	0.49481	0.29526	0.23845	N	AEFBI	0.335465	0.43390	N	-0.193337827270217	0.33412	1.895219	-0.277721751257906	0.28834	1.610748	0.999865595503967	0.44398	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.87	4.87	0.62877	2.855000	0.48032	.	.	0.544000	0.25403	0.094000	0.22667	0.004000	0.18990	0.115000	0.18958	0.0:1.0:0.0:0.0	13.574	0.61328	825	0.40060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004128	0.000000	0.008333	0.008982	0.000000	0.000000	0.000000	0.000000	0.02632	325.33	29	chr19	11350957	.	C	G	325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=618;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.55;SOR=0.765	GT:AD:DP:GQ:PL	0/0:22,0:22:64:0,64,595	18	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	201.47	61	chr19	11405406	.	G	C	201.47	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.832;DP=1163;ExcessHet=0.3672;FS=116.377;InbreedingCoeff=-0.174;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.96;SOR=7.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:39:.:.:0,39,1345:.	11	0	3	5
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S,RGL3:NM_001161616:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	83.43	64	chr19	11405407	.	T	C	83.43	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.584;DP=1109;ExcessHet=0.119;FS=18.146;InbreedingCoeff=-0.0911;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.846;SOR=4.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,116,1673:.	16	0	2	1
chr19	11405408	11405408	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1015G:p.N339D,RGL3:NM_001161616:exon8:c.A1015G:p.N339D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.168257505331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.18	0.65747	T	-4.65	0.79399	D	0.96	0.96984	0.343	0.88221	D	0.548	0.83393	D	10	0.9538684	0.94736	D	0.168258	0.84641	D	0.769	0.92212	0.814	0.92925	0.613675013168	0.61056	0.6608127146749349	0.66018	0.561778919436	0.52677	0.76652097702	0.76902	T	0.327982	0.69844	T	0.0801504	0.62059	D	-0.122646	0.61584	T	0.998850345611572	0.95376	D	0.950205	0.80929	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	0.89808	P	.;.	.;.	5.124242	0.85718	28.7	0.99721545031508141	0.82054	0.98097	0.79572	D	AEFDBI	0.950693	0.96457	D	0.813542536876161	0.86945	9.051328	0.690744031826607	0.81677	7.582605	0.998160086688684	0.36515	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0:0.0:0.0:1.0	13.594	0.61444	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	49.35	35	chr19	11405408	.	T	C	49.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=926;ExcessHet=0;FS=7.948;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.932;SOR=2.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:69:.:.:0,69,1740:.	18	0	1	0
chr19	11449092	11449092	A	G	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon15:c.A1348G:p.I450V,PRKCSH:NM_001001329:exon16:c.A1348G:p.I450V,PRKCSH:NM_001289103:exon16:c.A1378G:p.I460V,PRKCSH:NM_001289104:exon16:c.A1378G:p.I460V,PRKCSH:NM_001379608:exon16:c.A1357G:p.I453V,PRKCSH:NM_001379609:exon16:c.A1348G:p.I450V,PRKCSH:NM_002743:exon16:c.A1357G:p.I453V	Polycystic liver disease 1, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	256765	not_provided|Polycystic_liver_disease_1|not_specified	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0053	0.00778754	0.0064	0.0011	0.0013	0.0073	0.0076	0.0065	0.0089	0.0119	0.006507	1006	154602	rs34351170	0.0076	0.0076	0.0073	0.0078	0.0129	0.0074	0.0074	0.0123	0.0121	0.0015	0.0015	0	0.0041	0.0054	0.0055	0.0081	0.0062	0.0129	0.0056	0.0056	0.0054	0.0057	0.0131	0.0052	0.0051	0.0105	0.0095	0.0011	0.0429	0.0025	0.0003	0.0079	0.0075	0	0.0077	0.0047	0.0131	.	.	.	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.000324	0.45700	N	0.184815	0.999975	0.18612	N	-0.09	0.04745	N	-1.58	0.81987	D	.	.	.	0.156	0.16586	-0.8873	0.49163	T	0.203	0.55989	T	10	0.00853613	0.00193	T	.	.	.	.	.	.	.	0.283371740733	0.27958	0.5065078328404634	0.50572	.	.	0.487233489752	0.37056	T	0.153286	0.49406	T	-0.438522	0.01319	T	-0.392295	0.34284	T	0.00371138167468832	0.00039	T	0.0234976	0.00160	T	0.02781773	0.02027	0.029812073	0.01362	0.020555975	0.00618	0.027795853	0.00961	0.035	0.00366	T	.	.	0.058	0.00681	B	.;.;.;.	.;.;.;.	3.529203	0.49512	22.8	0.69236727640905305	0.08908	0.06733	0.12755	N	AEFDBCI	0.113277	0.22357	N	-0.657476909115767	0.17243	0.8856164	-0.497044359268979	0.22236	1.206725	0.629698680527482	0.21957	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	2.699000	0.46744	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1729:0.0:0.8271:0.0	9.535	0.38383	788	0.46569	.;Glucosidase 2 subunit beta-like;.;Glucosidase 2 subunit beta-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.009146	0.011364	0.02632	1396.33	34	chr19	11449092	.	A	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=784;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.091;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	11487712	11487712	C	T	exonic	ZNF653	.	nonsynonymous SNV	ZNF653:NM_138783:exon4:c.G751A:p.V251M	.	427	1082	13	0	0	13	0.00597152	.	.	.	2811599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00620692297086	0.0048	0.00179712	0.0045	0.0033	0.0018	0	0.0064	0.0061	0.0034	0.0026	0.0044566	689	154602	rs140179197	0.0056	0.0056	0.0055	0.0056	0.0065	0.0055	0.0054	0.0063	0.0063	0.0038	0.0021	7.656e-05	0	0.0052	0.0024	0.0065	0.0043	0.0025	0.0042	0.0042	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0055	0.0033	0	0.0018	0.0003	0	0.0036	0	0.0061	0.0024	0.0025	0.145	0.25154	T	0.104	0.38160	T	0.066	0.23586	B	0.007	0.12992	B	0.665997	0.10385	N	0.848002	0.592312	0.31009	N	0.345	0.11182	N	2.8	0.11082	T	0.24	0.04533	N	0.238	0.26837	-1.0795	0.07446	T	0.009	0.03403	T	10	0.005102366	0.00110	T	0.006207	0.16288	T	0.052	0.14661	.	.	0.340032825777	0.33618	0.2615099889713293	0.26063	0.191270352614	0.21451	0.576436936855	0.49583	T	0.023085	0.17685	T	-0.586708	0.00176	T	-0.609569	0.12020	T	0.00482236284443729	0.00052	T	0.729627	0.34527	T	0.065100916	0.13880	0.062361695	0.12187	0.065100916	0.13880	0.062361695	0.12187	-4.897	0.35701	T	.	.	0.166	0.36673	B	.	.	2.053901	0.26112	17.00	0.97824821111115767	0.36220	0.49554	0.28460	N	AEFDGBI	0.074435	0.14919	N	-0.38601774951174	0.25967	1.413592	-0.212332017260941	0.31092	1.756436	0.00193273689787783	0.09019	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.49	3.2	0.35826	0.887000	0.27891	.	.	0.591000	0.32079	0.973000	0.34540	0.000000	0.08366	0.978000	0.57271	0.0:0.7833:0.0:0.2167	6.927	0.23598	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	5299.79	35	chr19	11487712	.	C	T	5299.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.207;DP=1250;ExcessHet=0.3672;FS=0.52;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.793;SOR=0.631	GT:AD:DP:GQ:PL	0/1:101,80:181:99:1771,0,2291	16	0	3	0
chr19	11723215	11723215	C	T	exonic	ZNF823	.	nonsynonymous SNV	ZNF823:NM_017507:exon3:c.G187A:p.V63I,ZNF823:NM_001080493:exon4:c.G319A:p.V107I	.	425	1096	1	0	0	1	0.000455996	.	.	.	2351585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.000586872421554	7.7e-05	0.000399361	9.901e-05	0	0	0.0008	0	5.994e-05	0.0011	0	0.0001035	16	154602	rs199580884	7.114e-05	7.114e-05	6.534e-05	7.7e-05	0.0011	5.98e-05	5.588e-05	0.0008	0.0007	2.987e-05	2.236e-05	0	0.0011	0	0.0002	3.597e-05	0.0002	9.275e-05	0.0001	0.0001	0.0001	6.717e-05	0.0010	6.509e-05	5.321e-05	0.0004	0.0002	9.632e-05	0	0	0	0.0010	0	0	7.35e-05	0.0005	0.0002	0.218	0.22660	T	0.098	0.39040	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.51	0.02586	N	4.17	0.06523	T	0.33	0.04306	N	0.032	0.00825	-0.9451	0.41797	T	0.008	0.02884	T	9	0.012087375	0.00261	T	5.87E-4	0.00260	T	0.010	0.01040	.	.	0.134241683229	0.13084	0.034386328139018485	0.03386	0.332866775695	0.35330	0.210557624698	0.00835	T	0.009139	0.09213	T	-0.618625	0.00112	T	-0.756475	0.03241	T	0.0106963198050659	0.00150	T	0.0455454	0.00323	T	0.023240183	0.01046	0.026584785	0.00755	0.023240183	0.01046	0.026584785	0.00755	-3.075	0.11011	T	.	.	0.072	0.04640	B	.;.	.;.	-0.942323	0.00857	0.030	0.70187902391041834	0.09214	0.00017	0.00201	N	AEFDBHCI	0.013668	0.00190	N	-2.07876923513659	0.00142	0.006097638	-2.18233744688283	0.00123	0.005388677	0.902094539559277	0.26118	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.632	-1.26	0.08892	-0.091000	0.11111	.	.	-6.535000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3126:0.3164:0.162:0.209	0.407	0.00405	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1923.33	41	chr19	11723215	.	C	T	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=833;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.988;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	18	0	1	0
chr19	11780141	11780141	G	A	exonic	ZNF441	.	nonsynonymous SNV	ZNF441:NM_152355:exon4:c.G317A:p.S106N	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000938008950386	0.0008	0.000798722	0.0007	0.0003	0.0005	0	0	0.0011	0.0011	0.0005	0.000718	111	154602	rs140672079	0.0008	0.0008	0.0008	0.0007	0.0043	0.0007	0.0007	0.0030	0.0026	0.0003	0.0008	0.0035	0	0.0001	0.0043	0.0007	0.0013	0.0006	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0012	0.0035	0	0	0	0.0011	0	0.0002	0.52	0.07259	T	0.677	0.06166	T	0.969	0.56768	D	0.72	0.54860	P	.	.	.	.	1	0.08975	N	0.465	0.13073	N	3.33	0.06138	T	-1.47	0.35991	N	0.123	0.11483	-1.0675	0.09971	T	0.014	0.05513	T	9	0.009362161	0.00211	T	9.38E-4	0.00934	T	0.040	0.10527	.	.	0.374613414588	0.37068	0.032246392009627166	0.03172	0.438327093	0.43869	0.246487006545	0.03407	T	0.016236	0.13458	T	-0.704976	0.00034	T	-0.835866	0.01163	T	0.0175718271299223	0.00491	T	0.115488	0.00878	T	0.051034898	0.09311	0.059529003	0.11188	0.051034898	0.09310	0.059529003	0.11188	-6.178	0.47744	T	.	.	0.113	0.22171	B	.	.	-0.504586	0.01852	0.149	0.45317515677906656	0.03548	0.00004	0.00092	N	AEFBCI	0.036284	0.04810	N	-0.919849968724229	0.10378	0.4956522	-1.1275954824752	0.07176	0.3481125	3.00872611486444E-4	0.06406	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	1.04	-0.191	0.12601	-1.873000	0.01729	.	.	-0.501000	0.05019	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4037:0.5963:0.0	4.748	0.12421	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1546.33	33	chr19	11780141	.	G	A	1546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=1102;ExcessHet=0;FS=5.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.551;SOR=1.136	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	18	0	1	0
chr19	11806045	11806045	T	C	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.T92C:p.L31P	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.000690394756948	.	0.000199681	6.659e-05	0	0	0.0006	0	3.025e-05	0.0011	0	6.47e-05	10	154602	rs546146723	7.252e-05	7.251e-05	7.216e-05	7.29e-05	0.0017	6.115e-05	5.7e-05	0.0013	0.0012	0	0	0	0.0017	0	0.0003	2.338e-05	0.0001	5.802e-05	3.939e-05	3.937e-05	5.14e-05	2.685e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0002	0.236	0.18246	T	0.244	0.26714	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	2.43	0.15261	T	0.41	0.03407	N	0.094	0.07398	-0.9889	0.32878	T	0.018	0.07329	T	9	0.042735726	0.03051	T	6.9E-4	0.00418	T	0.099	0.28413	0.644	0.78117	0.0297737177859	0.01360	0.014153387235181975	0.01372	0.0268837342659	0.02745	0.216991066933	0.01143	T	0.002251	0.01652	T	-0.491818	0.00635	T	-0.581206	0.14438	T	0.00799872482568026	0.00095	T	0.00170852	0.00821	T	0.038460705	0.05127	0.05225913	0.08575	0.038460705	0.05127	0.05225913	0.08574	-2.992	0.10095	T	.	.	0.067	0.08997	B	.;.	.;.	0.998644	0.13771	10.32	0.89206250868403159	0.18600	0.00010	0.00151	N	AEFBCI	0.015261	0.00282	N	-1.34403963589904	0.03187	0.1419524	-1.41622230812692	0.03089	0.1434398	9.12450480873025E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.01	-0.108	0.12926	-1.126000	0.03365	.	.	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.422:0.3263:0.2517	2.432	0.04200	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	34	chr19	11806045	.	T	C	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.256;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr19	11806681	11806681	A	G	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.A728G:p.Y243C	.	392	1114	16	0	0	16	0.00713012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00100771457749	7.7e-05	0.000199681	0.0007	0	0.0005	0	0	0.0005	0	0.0029	0.0005821	90	154602	rs200242552	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0004	0.0028	0.0027	8.982e-05	0.0005	0.0053	2.519e-05	0	0.0026	0.0001	0.0008	0.0031	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0002	0.0016	0.0013	4.813e-05	0	0	0.0058	0	0	0	0.0002	0.0005	0.0027	0.009	0.57480	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.997545	0.22615	N	2.605	0.76211	M	1.8	0.25344	T	-8.44	0.97202	D	0.155	0.16028	-1.0142	0.25593	T	0.152	0.48101	T	9	0.008301079	0.00188	T	0.001008	0.01096	T	0.026	0.05648	.	.	0.347659731818	0.34379	0.042998980970991786	0.04244	0.191481901938	0.21479	0.318927526474	0.13258	T	0.090194	0.38534	T	-0.577247	0.00200	T	-0.606255	0.12291	T	0.229590460289067	0.21932	T	0.381762	0.09261	T	0.291563	0.52137	0.31521928	0.57510	0.291563	0.52137	0.31521928	0.57509	-6.769	0.52328	T	.	.	0.191	0.41047	B	.	.	2.885266	0.38196	20.7	0.98191298430309903	0.39036	0.00037	0.00318	N	AEFBCI	0.078806	0.15908	N	-0.133085953128206	0.35957	2.072055	-0.471771598224652	0.22935	1.248234	1.52825909242054E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.981	0.981	0.18875	-0.249000	0.08861	.	.	0.556000	0.28261	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.6995:0.0:0.0:0.3005	4.287	0.10304	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1416.33	34	chr19	11806681	.	A	G	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=754;ExcessHet=0;FS=9.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.249;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	18	0	1	0
chr19	11831991	11831991	G	A	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon4:c.G815A:p.R272H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000808918510534	0.0002	0.00139776	0.0006	0.0003	0.0003	0	0	0.0002	0	0.0034	0.0005886	91	154602	rs199832413	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0025	0.0023	0.0002	0.0002	0	0	5.617e-05	0.0005	0.0002	0.0004	0.0027	0.0003	0.0004	0.0003	0.0004	0.0040	0.0003	0.0002	0.0026	0.0022	0.0002	0	0.0002	0	0	9.425e-05	0	0.0003	0	0.0040	0.138	0.25873	T	0.198	0.27767	T	0.102	0.25827	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.655	0.42436	L	1.95	0.22474	T	-2.54	0.55025	D	0.121	0.11197	-0.9615	0.38897	T	0.030	0.13023	T	9	0.004054308	0.00079	T	8.09E-4	0.00649	T	0.008	0.00669	.	.	0.221734844693	0.21761	0.02193880025590989	0.02145	0.048095875707	0.05251	0.202302068472	0.00526	T	0.006844	0.06266	T	-0.638877	0.00085	T	-0.694782	0.06116	T	0.00880367855476009	0.00109	T	0.140186	0.01129	T	0.032722678	0.03351	0.042088132	0.04932	0.032722678	0.03351	0.042088132	0.04931	-5.352	0.40455	T	.	.	0.110	0.21163	B	.	.	0.683452	0.10520	7.232	0.54251399655805133	0.05100	0.00000	0.00017	N	AEFBCI	.	.	.	-1.31471063042264	0.03506	0.1567288	-1.4694902296257	0.02598	0.1197682	8.7166010352446E-4	0.07946	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.0	-1.93	0.07180	-2.182000	0.01341	.	.	0.244000	0.18284	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.3504:0.0:0.2282:0.4214	2.245	0.03783	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.000000	0.008197	0.000000	0.000000	0.003067	0.000000	0.02632	4023.33	33	chr19	11831991	.	G	A	4023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1825;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.059;SOR=0.626	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr19	11832410	11832410	C	T	exonic	ZNF440	.	stopgain	ZNF440:NM_152357:exon4:c.C1234T:p.R412X	.	403	1106	13	0	0	13	0.0058427	.	.	.	716161	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0029	0.000798722	0.0024	0.0009	0.0013	0.0001	0.0005	0.0028	0.0022	0.0047	0.0025679	397	154602	rs200705543	0.0040	0.0040	0.0039	0.0042	0.0052	0.0040	0.0039	0.0048	0.0046	0.0008	0.0015	0.0080	2.524e-05	0.0002	0.0023	0.0044	0.0039	0.0052	0.0030	0.0031	0.0033	0.0028	0.0059	0.0028	0.0027	0.0041	0.0039	0.0009	0.0068	0.0030	0.0059	0	0.0004	0.0155	0.0045	0.0039	0.0059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0697251	0.41370	T	0.128297	0.78782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.353410	0.95067	34	0.85278385233026011	0.15794	0.00000	0.00017	N	AEFDBHCI	.	.	.	-0.350782746003124	0.27243	1.493159	-0.808133772938246	0.14298	0.7463973	0.00359841879209578	0.10193	0.562547	0.31514	0	0.577304	0.33150	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.19	-2.02	0.06981	-0.357000	0.07702	.	.	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.5741:0.2347:0.1912:0.0	4.705	0.12226	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2477.33	33	chr19	11832410	.	C	T	2477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1782;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.006;QD=14.16;ReadPosRankSum=-1.396;SOR=0.641	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr19	12076186	12076186	A	G	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1066G:p.K356E	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0042	0.00359425	0.0066	0.0029	0.0041	0	0.0014	0.0065	0.0023	0.0115	0.0032729	506	154602	rs61998199	0.0053	0.0053	0.0053	0.0054	0.0098	0.0052	0.0052	0.0093	0.0090	0.0008	0.0021	0.0013	0	0.0007	0.0021	0.0058	0.0047	0.0098	0.0034	0.0034	0.0035	0.0034	0.0064	0.0032	0.0031	0.0050	0.0048	0.0011	0	0.0041	0	0	0.0006	0.0068	0.0055	0.0028	0.0064	0.016	0.51853	D	0.026	0.55759	D	0.298	0.32505	B	0.144	0.33818	B	.	.	.	.	1	0.18612	N	1.29	0.32370	L	3.29	0.06445	T	-1.82	0.42763	N	0.066	0.03841	-0.9958	0.31082	T	0.012	0.04795	T	9	0.005078733	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0297737177859	0.01360	0.019703609881135866	0.01923	0.0140823179326	0.01340	0.225910156965	0.01680	T	0.006	0.05051	T	-0.67362	0.00052	T	-0.733846	0.04155	T	0.00836196739726162	0.00101	T	0.0134986	0.00072	T	0.10117602	0.23896	0.08319262	0.19046	0.10117602	0.23896	0.08319262	0.19046	-6.089	0.47018	T	.	.	0.408	0.60019	A	.	.	1.141019	0.15283	11.73	0.99585638236336271	0.73277	0.00001	0.00044	N	AEDBCI	.	.	.	-0.669499871888202	0.16895	0.864769	-0.749832738805937	0.15726	0.8285321	0.00901801513552424	0.11781	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	2.5	0.29355	-1.680000	0.02040	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7554:0.2446:0.0:0.0	6.624	0.22014	934	0.15400	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001362	0.002924	0.000000	0.000000	0.009146	0.000000	0.02632	1695.33	36	chr19	12076186	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=1132;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.116;SOR=0.51	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1064	18	0	1	0
chr19	12076205	12076205	G	A	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.G1085A:p.R362K	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0009	0.0203674	0.0103	0.0013	0.0004	0.1387	0.0089	0.0036	0.012	0.0017	0.0057114	883	154602	rs79356129	0.0040	0.0040	0.0040	0.0039	0.1116	0.0039	0.0039	0.1088	0.1077	0.0002	0.0001	0.0019	0.1116	0.0054	0.0007	0.0005	0.0066	0.0013	0.0041	0.0041	0.0034	0.0048	0.0880	0.0038	0.0037	0.0813	0.0787	0.0004	0	0.0005	0.0026	0.0880	0.0048	0	0.0011	0.0029	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.047	0.21998	B	0.033	0.22329	B	.	.	.	.	1	0.18198	N	-0.065	0.04868	N	3.29	0.06445	T	1.69	0.00584	N	0.077	0.05162	-0.9488	0.41177	T	0.000	0.00039	T	9	0.0035104454	0.00063	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.017212415975688945	0.01676	0.010741408872	0.00990	0.248823910952	0.03644	T	0.001038	0.00564	T	-0.796285	0.00008	T	-0.786765	0.02255	T	0.000835690929903807	0.00008	T	0.606739	0.22845	T	0.03534941	0.04144	0.04408981	0.05634	0.03534941	0.04144	0.04408981	0.05634	-0.805	0.00807	T	.	.	0.137	0.29941	B	.	.	-1.223819	0.00508	0.011	0.30995835526489429	0.01724	0.00000	0.00017	N	AEFDBCI	.	.	.	-1.36144194046354	0.03008	0.1336992	-1.39594126067847	0.03295	0.1534162	0.00209449974586222	0.09151	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	-1.24	0.08948	-0.496000	0.06517	.	.	-1.187000	0.01379	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.6266:0.0:0.3734:0.0	6.697	0.22396	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	2056.33	36	chr19	12076205	.	G	A	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=1134;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.969;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1064	18	0	1	0
chr19	12272828	12272828	T	C	exonic	ZNF44	.	nonsynonymous SNV	ZNF44:NM_001353551:exon4:c.A1331G:p.Y444C,ZNF44:NM_001353552:exon4:c.A1091G:p.Y364C,ZNF44:NM_016264:exon4:c.A1427G:p.Y476C,ZNF44:NM_001164276:exon5:c.A1571G:p.Y524C,ZNF44:NM_001353550:exon5:c.A1331G:p.Y444C,ZNF44:NM_001353553:exon5:c.A1091G:p.Y364C,ZNF44:NM_001353549:exon6:c.A1331G:p.Y444C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0023208979662	.	.	5.795e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs763273957	1.642e-05	1.642e-05	1.361e-05	1.925e-05	0.0003	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0	0	3.313e-05	0.0003	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	.	.	.	2.655	0.77738	M	1.8	0.25344	T	-7.09	0.93950	D	0.184	0.19995	-0.8952	0.48465	T	0.129	0.43706	T	8	0.16234463	0.30427	T	0.002321	0.04479	T	0.042	0.11227	0.477	0.55502	0.384752662912	0.38087	0.048296450050406114	0.04772	0.400840360068	0.41082	0.249673366547	0.03733	T	0.085632	0.37545	T	-0.405276	0.02137	T	-0.491967	0.23184	T	0.79991626739502	0.46347	D	0.690331	0.29972	T	0.27050084	0.50122	0.19448802	0.43074	0.27050084	0.50121	0.19448802	0.43073	-7.5	0.57610	T	.	.	0.173	0.38025	B	.;.	.;.	2.485138	0.32052	18.93	0.93764261127799997	0.23712	0.00012	0.00170	N	AEFBCI	0.045870	0.07551	N	-0.337489297244646	0.27735	1.524068	-0.692115409297644	0.17157	0.9110482	0.0017911414989781	0.08891	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.12	-0.0347	0.13223	-2.213000	0.01308	.	.	0.349000	0.19912	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2458:0.0:0.2495:0.5047	2.839	0.05182	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	34	chr19	12272828	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=903;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.917;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	18	0	1	0
chr19	12350239	12350239	C	T	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G1139A:p.R380Q,ZNF442:NM_030824:exon6:c.G1346A:p.R449Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000795333579005	0.0010	0.000798722	0.0003	0.0030	0.0002	0	0	4.497e-05	0	0	0.0002587	40	154602	rs146388788	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0001	0.0019	0.0018	0.0024	0.0002	0	0	0	0.0005	0.0001	0.0002	2.319e-05	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0021	0.0020	0.0025	0	0.0001	0	0	0	0	4.434e-05	0	0	0.442	0.10311	T	0.54	0.10391	T	0.093	0.25333	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.19	0.30124	L	3.19	0.07353	T	-1.04	0.31170	N	0.02	0.01135	-0.9118	0.46632	T	0.012	0.04700	T	9	0.0037082136	0.00068	T	7.95E-4	0.00608	T	0.002	0.00045	.	.	0.148003135375	0.14442	0.013188161658614238	0.01276	0.0685110287662	0.07671	0.204187303782	0.00588	T	0.002325	0.01720	T	-0.697048	0.00038	T	-0.777402	0.02533	T	0.00132276054773285	0.00013	T	0.530647	0.17608	T	0.030325845	0.02677	0.032622144	0.02026	0.030325845	0.02677	0.032622144	0.02026	-3.855	0.25142	T	.	.	0.105	0.19998	B	.;.;.	.;.;.	0.176005	0.05641	2.093	0.79546419787824774	0.12791	0.00001	0.00044	N	AEFBHCI	0.025112	0.01664	N	-1.60466593291419	0.01241	0.053998	-1.7196225804428	0.01053	0.04727385	0.00962431979082395	0.11886	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	0.832	-1.66	0.07824	-1.170000	0.03227	.	.	0.313000	0.19204	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.0:0.2818:0.0:0.7182	6.764	0.22745	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2054.33	37	chr19	12350239	.	C	T	2054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=784;ExcessHet=0;FS=6.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1;QD=14.67;ReadPosRankSum=0.594;SOR=0.4	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	18	0	1	0
chr19	12391487	12391487	G	A	exonic	ZNF799	.	nonsynonymous SNV	ZNF799:NM_001080821:exon4:c.C911T:p.T304I,ZNF799:NM_001322497:exon4:c.C815T:p.T272I,ZNF799:NM_001322498:exon5:c.C815T:p.T272I	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00113329470796	0.0068	0.00299521	0.0068	0.0018	0.0035	0	0.0045	0.0092	0.0055	0.0074	0.0067981	1051	154602	rs45442691	0.0097	0.0097	0.0095	0.0098	0.0110	0.0095	0.0095	0.0108	0.0108	0.0017	0.0032	0.0087	5.038e-05	0.0059	0.0035	0.0110	0.0080	0.0076	0.0068	0.0068	0.0071	0.0066	0.0110	0.0065	0.0064	0.0104	0.0101	0.0019	0.0077	0.0035	0.0072	0	0.0073	0.0136	0.0110	0.0062	0.0064	0.014	0.78490	D	0.004	0.92824	D	0.428	0.35540	B	0.541	0.48869	P	.	.	.	.	0.859932	0.36617	D	1.75	0.45442	L	1.78	0.25678	T	-5.04	0.82764	D	0.231	0.27910	-0.9205	0.45486	T	0.076	0.30492	T	9	0.003923744	0.00075	T	0.001133	0.01385	T	0.083	0.24192	.	.	0.426084969639	0.42228	0.015766925572213337	0.01532	0.388753100896	0.40136	0.345039606094	0.17189	T	0.04157	0.25903	T	-0.466264	0.00897	T	-0.430856	0.29837	T	0.0626511478553005	0.07580	T	0.0261974	0.00159	T	0.3756993	0.59003	0.37943444	0.62999	0.3756993	0.59004	0.37943444	0.62999	-6.5	0.50286	T	.	.	0.273	0.51192	B	.;.	.;.	2.017140	0.25634	16.83	0.99201053435853892	0.55291	0.23798	0.22191	N	AEFBHCI	0.092520	0.18731	N	-0.423969534968826	0.24632	1.331362	-0.628126218196919	0.18771	1.004267	0.0497462385268515	0.14816	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.31	1.31	0.20837	2.205000	0.42407	.	.	0.492000	0.22399	0.994000	0.38300	0.000000	0.08366	0.276000	0.23917	0.0:0.0:1.0:0.0	8.510	0.32372	923	0.18507	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	rs45442691	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	3473.33	35	chr19	12391487	.	G	A	3473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=892;ExcessHet=0;FS=6.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.872;SOR=0.724	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1326	18	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15365.4	34	chr19	12430730	.	A	*	15365.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.331;DP=3014;ExcessHet=1.1637;FS=3.239;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=58.32;MQRankSum=-4.846;QD=12.05;ReadPosRankSum=0.056;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:173,0:173:99:.:.:0,120,1800:.	15	0	4	0
chr19	12431796	12431796	C	A	exonic	ZNF443	.	nonsynonymous SNV	ZNF443:NM_005815:exon4:c.G376T:p.A126S	.	426	1095	1	0	0	1	0.000456413	.	.	.	2327038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00157028056619	0.0002	.	5.768e-05	0	0	0	0	8.993e-05	0	6.06e-05	4.53e-05	7	154602	rs373097363	3.352e-05	3.352e-05	2.995e-05	3.713e-05	0.0005	2.566e-05	2.312e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	2.608e-05	0.0001	8.116e-05	5.913e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	6.547e-05	0	0	0	0	0.0001	0.0005	0	0.265	0.16305	T	0.322	0.19016	T	0.047	0.21998	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	-1.075	0.01037	N	3.25	0.06762	T	0.62	0.02442	N	0.094	0.07398	-0.9379	0.42947	T	0.011	0.04088	T	9	0.03735602	0.02085	T	0.00157	0.02497	T	0.006	0.00375	.	.	0.16115917748	0.15686	0.00879243368689179	0.00843	0.0326038258851	0.03409	0.213184565306	0.00954	T	1.76E-4	0.00028	T	-0.519484	0.00443	T	-0.768644	0.02813	T	0.0251126451530099	0.01287	T	0.00127821	0.00002	T	0.040836554	0.05902	0.052884243	0.08800	0.040836554	0.05902	0.052884243	0.08800	-3.457	0.15835	T	.	.	0.082	0.08609	B	.	.	-0.130704	0.03462	0.642	0.48497507733948741	0.04052	0.01076	0.03978	N	AEFBI	0.021771	0.01009	N	-1.36182066330897	0.03004	0.1335221	-1.42929913279022	0.02963	0.1373141	2.3229750959342E-4	0.06095	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.37	0.26	0.14844	-1.552000	0.02280	.	.	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.0:0.2287:0.0:0.7713	4.443	0.11007	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	5983.83	34	chr19	12431796	.	C	A	5983.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.665;DP=3548;ExcessHet=0.119;FS=2.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=1.06;QD=12.7;ReadPosRankSum=1.3;SOR=0.813	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	17	0	2	0
chr19	12526874	12526874	C	T	exonic	ZNF564	.	nonsynonymous SNV	ZNF564:NM_144976:exon4:c.G1234A:p.E412K	.	.	.	.	.	.	.	.	.	.	.	3361263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00161903100458	.	.	0.0002	0	0.0014	0	0	1.498e-05	0	0.0002	0.0001358	21	154602	rs763823431	5.541e-05	5.541e-05	5.445e-05	5.638e-05	0.0008	4.543e-05	4.155e-05	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	1.169e-05	0	0.0003	6.573e-06	1.314e-05	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.338	0.12796	T	0.366	0.16668	T	0.854	0.47077	P	0.495	0.47504	P	.	.	.	.	0.991056	0.24088	N	0.12	0.08593	N	3.2	0.07236	T	-2.37	0.52289	N	0.081	0.05670	-0.9468	0.41515	T	0.018	0.07612	T	9	0.031281024	0.01262	T	0.001619	0.02625	T	0.069	0.20116	0.464	0.53404	0.261217442401	0.25729	0.09323893711520459	0.09255	0.504584776832	0.48730	.	.	.	0.206212	0.56549	T	-0.599776	0.00146	T	-0.697693	0.05953	T	0.105217287139781	0.12921	T	0.294771	0.05441	T	0.09496981	0.22339	0.11366093	0.27432	0.09496981	0.22339	0.11366093	0.27432	-6.6	0.51053	T	.	.	0.185	0.40098	B	.	.	2.333417	0.29897	18.27	0.99775161892799025	0.86260	0.00000	0.00017	N	AEFGBHCI	0.026130	0.01909	N	-0.397724000424994	0.25550	1.387776	-0.528310138579138	0.21386	1.156646	0.0122038908266278	0.12293	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.96	1.96	0.25203	0.001000	0.12940	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.5422:0.4577:0.0	7.614	0.27312	878	0.29785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3044.33	35	chr19	12526874	.	C	T	3044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=904;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.513;SOR=0.641	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1434	18	0	1	0
chr19	12580820	12580820	C	T	exonic	ZNF490	.	nonsynonymous SNV	ZNF490:NM_020714:exon5:c.G1255A:p.E419K	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0102	0.00519169	0.0025	0.0263	0.0010	0	0	0.0002	0.0033	0.0002	0.0022703	351	154602	rs73497762	0.0011	0.0011	0.0013	0.0010	0.0263	0.0011	0.0011	0.0249	0.0243	0.0263	0.0013	0	7.557e-05	0	0.0005	0.0005	0.0018	0.0002	0.0079	0.0079	0.0082	0.0076	0.0261	0.0075	0.0074	0.0248	0.0243	0.0261	0	0.0049	0	0	0	0.0034	0.0003	0.0076	0.0004	0.267	0.16198	T	0.167	0.30729	T	0.024	0.19075	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.05	0.04954	N	2.16	0.19166	T	-2.78	0.58896	D	0.098	0.07949	-0.9814	0.34678	T	0.007	0.02598	T	9	0.0042211413	0.00084	T	.	.	.	0.029	0.06676	.	.	0.0920862733494	0.08535	0.02642164379164722	0.02592	0.530034928815	0.50556	0.214114382863	0.00998	T	0.224188	0.58855	T	-0.759943	0.00015	T	-0.843432	0.01048	T	0.0173577493468019	0.00474	T	0.166083	0.01539	T	0.16061619	0.36015	0.15576191	0.36496	0.16061619	0.36014	0.15576191	0.36496	-5.002	0.36861	T	.	.	0.086	0.10739	B	.	.	0.898110	0.12718	9.240	0.97480544227793708	0.34188	0.00006	0.00120	N	AEFGBCI	0.020339	0.00793	N	-1.30915074234941	0.03569	0.1596913	-1.35014961842851	0.03804	0.1781894	0.271765874432834	0.18899	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.996	-0.238	0.12411	-3.705000	0.00435	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.2342:0.2985:0.4673:0.0	4.267	0.10216	873	0.30802	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1789.33	36	chr19	12580820	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=751;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.322;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	18	0	1	0
chr19	12656609	12656609	C	G	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon13:c.G1606C:p.V536L,MAN2B1:NM_001173498:exon13:c.G1603C:p.V535L	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00924875777381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.06461	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.172221	0.03119	N	1.839980	1	0.08975	N	-0.88	0.01436	N	-1.2	0.78537	T	-0.62	0.18248	N	0.049	0.02088	-1.0023	0.29255	T	0.128	0.43503	T	10	0.058353633	0.06847	T	0.009249	0.24296	T	0.178	0.44724	0.381	0.39807	0.255777322467	0.25185	0.2913161123609549	0.29044	1.75436928323	0.91029	0.275301098824	0.06846	T	0.200606	0.55824	T	-0.261859	0.12684	T	-0.613919	0.11668	T	0.027184043479775	0.01570	T	0.424758	0.11367	T	0.033511903	0.03585	0.04544123	0.06116	0.033511903	0.03585	0.04544123	0.06115	-1.994	0.03211	T	0.05330941263251451	0.01071	0.079	0.07507	B	.;.	.;.	-0.366857	0.02340	0.252	0.42574181890031954	0.03147	0.01155	0.04171	N	AEFDGBI	0.049958	0.08684	N	-1.80642994303045	0.00530	0.0228017	-1.86292426515946	0.00578	0.02566188	0.999998628524286	0.74766	0.766844	0.99359	0	0.702456	0.74545	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	5.24	-10.5	0.00234	-1.577000	0.02231	.	.	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.328000	0.25156	0.1773:0.2857:0.2147:0.3222	0.939	0.01267	784	0.47045	Glycosyl hydrolase family 38, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1680.33	37	chr19	12656609	.	C	G	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=787;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.853;SOR=0.619	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	12673255	12673255	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon8:c.G737A:p.R246H,WDR83:NM_001099737:exon10:c.G737A:p.R246H	.	424	1096	2	0	0	2	0.000911577	.	.	.	2340427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0455378726101	.	.	0.0002	0	0.0005	0.0001	0	0.0003	0	6.058e-05	0.0001876	29	154602	rs199685737	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	0.0003	0	0	0	0.0012	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.095e-05	5.751e-05	0.0001	8.88e-05	2.409e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.066	0.36113	T	0.108	0.37589	T	0.187	0.29285	B	0.015	0.17295	B	0.000101	0.50451	D	0.174525	0.816316	0.34712	D	0.55	0.14455	N	-1.46	0.80983	T	-1.03	0.27052	N	0.452	0.48963	-0.8948	0.48502	T	0.119	0.41669	T	10	0.15356863	0.28984	T	0.045538	0.62027	D	0.209	0.49871	0.425	0.47021	0.57604792508	0.57274	0.22793021654979237	0.22708	0.829311628033	0.67554	0.436872065067	0.30150	T	0.34768	0.71577	T	-0.177782	0.24067	T	-0.195588	0.55063	T	0.0450481772422791	0.04612	T	0.910909	0.68443	D	0.036502175	0.04503	0.04003048	0.04233	0.036502175	0.04503	0.04003048	0.04233	-4.411	0.29706	T	.	.	0.100	0.17232	B	.	.	2.963104	0.39466	21.0	0.99908816198209072	0.97875	0.70790	0.34737	D	AEFDBHCI	0.163771	0.29009	N	0.0255893592396282	0.43020	2.603303	0.091596821816124	0.44123	2.70034	0.850260083033605	0.25031	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.4	0.52402	3.283000	0.51405	.	.	0.672000	0.70159	0.999000	0.42656	0.999000	0.35428	0.514000	0.29336	0.166:0.0:0.834:0.0	9.303	0.37017	735	0.53711	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1513.33	36	chr19	12673255	.	G	A	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.8;DP=814;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.55;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1469	18	0	1	0
chr19	12675635	12675635	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q	.	407	1095	19	1	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0055	0.00938498	0.0158	0.0020	0.1013	0	0.0108	0.0085	0.0147	0.0060	0.014243	2202	154602	rs35092999	0.0094	0.0094	0.0097	0.0091	0.0778	0.0093	0.0092	0.0757	0.0748	0.0017	0.0778	0.0069	2.52e-05	0.0100	0.0083	0.0076	0.0080	0.0059	0.0090	0.0089	0.0084	0.0095	0.0377	0.0086	0.0084	0.0352	0.0342	0.0017	0	0.0377	0.0049	0.0004	0.0120	0	0.0077	0.0081	0.0060	0.533	0.06957	T	0.534	0.09965	T	0.645	0.40526	P	0.058	0.26451	B	0.000013	0.62929	D	0.115474	0.968532	0.38666	D	1.935	0.51832	L	0.94	0.43672	T	-0.59	0.17624	N	0.204	0.22614	-1.0753	0.08287	T	0.026	0.10954	T	10	0.0030876398	0.00051	T	.	.	.	0.181	0.45247	.	.	.	.	0.4598912286580295	0.45907	0.350156698946	0.36863	0.349375605583	0.17830	T	0.326822	0.69740	T	-0.46973	0.00853	T	-0.384132	0.35239	T	0.031882100544794	0.02287	T	0.853715	0.53946	D	0.097578995	0.23003	0.0824511	0.18819	0.097578995	0.23002	0.0824511	0.18819	-3.105	0.11353	T	.	.	0.123	0.25689	B	.	.	2.777217	0.36468	20.3	0.92374721560023865	0.21781	0.93157	0.57474	D	AEFDBHCI	0.855043	0.77212	D	0.231881359401382	0.52750	3.447254	0.319136028699639	0.56665	3.830181	0.999999999991758	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	7.040000	0.76273	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	0.0:0.0:1.0:0.0	18.992	0.92773	730	0.54327	.	.	.	.	.	rs35092999	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008577	0.020619	0.000000	0.011696	0.000000	0.025862	0.003049	0.018939	0.02632	1573.33	35	chr19	12675635	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=766;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.526;SOR=0.918	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1338	18	0	1	0
chr19	12688336	12688336	C	A	exonic	GNG14	.	nonsynonymous SNV	GNG14:NM_001316692:exon1:c.C288A:p.N96K	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0110	0	0	0	.	0	0	0.0157	0.0009767	151	154602	rs543075085	0.0020	0.0018	0.0010	0.0029	0.0171	0.0019	0.0019	0.0162	0.0159	0	2.881e-05	0	0	0	0.0002	3.155e-06	0.0008	0.0171	0.0007	0.0007	0.0003	0.0011	0.0199	0.0006	0.0005	0.0167	0.0155	0.0001	0	6.537e-05	0	0.0002	0	0	1.47e-05	0	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009295493	0.00210	T	.	.	.	.	.	.	.	.	.	0.23550279823288983	0.23465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784422	0.42203	T	0.06125722	0.12665	0.18986847	0.42358	0.06125722	0.12665	0.18986847	0.42357	-7.005	0.54070	T	.	.	0.335	0.55555	B	.;.	.;.	3.080394	0.41440	21.4	0.61416675927745568	0.06703	0.93385	0.58075	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00488790317893699	0.10750	0.088506	0.02282	0	0.037452	0.00068	0	0.068591	0.01938	0	0.09929	0.02979	0	0.737763	0.44074	4.79	3.75	0.42236	1.227000	0.32179	.	.	-0.253000	0.07101	1.000000	0.71638	0.998000	0.33993	0.326000	0.25110	0.0:0.8999:0.0:0.1001	9.617	0.38860	721	0.55360	G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3072.81	95	chr19	12688336	.	C	A	3072.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.35;SOR=1.489	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1236	18	1	0	0
chr19	12696212	12696212	C	T	exonic	FBXW9	.	nonsynonymous SNV	FBXW9:NM_032301:exon1:c.G370A:p.A124T	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0257534856851	.	0.000798722	0.0031	0	0	0	0	0.0002	0	0.0052	0.0004528	70	154602	rs568421602	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0051	3.156e-05	0	0	0	0	0.0011	3.698e-06	0.0006	0.0058	0.0002	0.0002	7.708e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.405e-05	0	0	0	0	0	0	0	0	0.0060	0.232	0.18184	T	0.352	0.17372	T	0.991	0.64070	D	0.615	0.51231	P	0.004650	0.33526	N	0.280832	0.835825	0.81001	D	.	.	.	0.59	0.53943	T	0.12	0.05604	N	0.198	0.21839	-1.0421	0.16681	T	0.113	0.40377	T	10	0.007188767	0.00163	T	0.025753	0.48703	D	0.059	0.16972	0.435	0.48664	0.559387959211	0.55600	0.21919611696488714	0.21835	0.547081755179	0.51680	0.685147762299	0.65008	T	.	.	.	-0.467192	0.00885	T	-0.442084	0.28576	T	0.117021956520718	0.14135	T	0.661834	0.27067	T	.	.	.	.	.	.	.	.	-4.528	0.31253	T	.	.	0.229	0.46121	B	.;.	.;.	3.901955	0.56841	23.8	0.99734393145824596	0.83047	0.60062	0.31089	D	AEFDGBHCI	0.216770	0.34197	N	-0.239726850713958	0.31516	1.767911	-0.10496301938373	0.35189	2.032956	0.999999999997653	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.24	4.21	0.48984	1.824000	0.38710	.	.	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.7749:0.1444:0.0807	9.400	0.37589	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.000000	0.001381	0.000000	0.000000	0.000000	0.000000	0.007874	0.02632	718.33	35	chr19	12696212	.	C	T	718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.504;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.144;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1188	18	0	1	0
chr19	12767887	12767887	C	T	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon13:c.G1232A:p.R411Q,HOOK2:NM_013312:exon13:c.G1232A:p.R411Q	.	423	1092	6	1	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0753854153159	.	0.000998403	0.0005	0	0	0	0	6.146e-05	0.0011	0.0033	0.000414	64	154602	rs200777754	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	8.965e-05	4.475e-05	0	0	0	0.0005	9.986e-05	0.0003	0.0037	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.231e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0039	0.002	0.72154	D	0.162	0.31225	T	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.060293	0.999515	0.47363	D	2.845	0.82663	M	1.76	0.25996	T	-3.5	0.68178	D	0.689	0.69474	-0.7295	0.58989	T	0.185	0.53361	T	10	0.037025332	0.02033	T	0.075385	0.72274	D	0.403	0.71636	.	.	0.536100336011	0.53261	0.6506373110810308	0.64999	0.928649804324	0.71733	0.668483257294	0.62621	T	0.180103	0.53132	T	-0.241972	0.15097	T	-0.124343	0.61444	T	0.220035727947626	0.21466	T	0.972003	0.90315	D	0.62380975	0.73967	0.5111519	0.71751	0.62380975	0.73968	0.5111519	0.71751	-9.323	0.69921	D	.	.	0.295	0.52565	B	.;.	.;.	4.799200	0.77957	26.8	0.99940199820010223	0.99767	0.92869	0.56746	D	AEFBCI	0.838258	0.75579	D	0.84016448441396	0.88539	9.61723	0.78281678570198	0.88574	9.633475	0.999999993212944	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.61	4.57	0.55860	5.588000	0.67210	.	.	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.652000	0.32748	0.0:0.9234:0.0:0.0766	13.833	0.62887	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1152.33	35	chr19	12767887	.	C	T	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=723;ExcessHet=0;FS=4.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.39;SOR=1.232	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	12771410	12771410	T	C	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon8:c.A587G:p.D196G,HOOK2:NM_013312:exon8:c.A587G:p.D196G	.	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0523327000793	0.0007	0.000399361	0.0008	0.0001	0.0003	0	0.0004	0.0011	0	0.0010	0.0007568	117	154602	rs200086187	0.0009	0.0009	0.0009	0.0010	0.0010	0.0009	0.0008	0.0010	0.0010	0.0001	0.0004	0	2.519e-05	0.0002	0.0005	0.0010	0.0012	0.0007	0.0006	0.0006	0.0009	0.0004	0.0012	0.0005	0.0005	0.0010	0.0009	4.813e-05	0	0.0007	0	0.0002	0.0002	0	0.0012	0.0009	0.0002	0.001	0.78490	D	0.086	0.53788	T	0.787	0.44504	P	0.568	0.49807	P	0.000000	0.84330	D	0.000000	0.999945	0.51968	D	2.36	0.67893	M	2.09	0.20122	T	-4.69	0.79743	D	0.488	0.52918	-1.0321	0.19777	T	0.089	0.34381	T	10	0.058320194	0.06838	T	0.052333	0.65029	D	0.188	0.46444	.	.	0.27855597813	0.27464	0.3127838881540818	0.31191	0.397034993855	0.40804	0.573969244957	0.49237	T	0.089082	0.38296	T	-0.327879	0.06272	T	-0.294193	0.45334	T	0.063046116032492	0.07639	T	0.907909	0.74042	D	0.7853553	0.82984	0.62337774	0.78053	0.7853553	0.82986	0.62337774	0.78054	-6.033	0.46555	T	.	.	0.172	0.45738	B	.;.;.;.;.;.	.;.;.;.;.;.	4.132928	0.61862	24.4	0.99813095278047081	0.89708	0.93399	0.58113	D	AEFBCI	0.748341	0.69012	D	0.351384890992405	0.58813	4.055898	0.351360229371377	0.58589	4.030393	0.9999999613433	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	3.154000	0.50391	.	.	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.724000	0.34901	0.0:0.0:0.0:1.0	13.319	0.59860	624	0.65661	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1630.33	38	chr19	12771410	.	T	C	1630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.333;DP=742;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.043;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	18	0	1	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G	.	409	1105	8	0	0	8	0.00360685	.	.	.	1158405	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.012228	0.000000	0.000000	0.000000	0.012195	0.003788	0.05263	2163.83	33	chr19	12881105	.	G	C	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.955;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	17	0	2	0
chr19	12924762	12924762	G	A	exonic	FARSA	.	nonsynonymous SNV	FARSA:NM_004461:exon10:c.C1072T:p.R358W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.34781265409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466031326	2.758e-06	4.104e-06	1.369e-06	4.169e-06	3.623e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.623e-06	0	0	1.314e-05	1.313e-05	2.568e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.385	0.99984	H	-2.3	0.87671	D	-7.93	0.96269	D	0.991	0.99863	0.968	0.96666	D	0.882	0.96072	D	10	0.9872068	0.99073	D	0.347813	0.92188	D	0.865	0.95912	0.921	0.98604	0.981522659944	0.98132	0.9195851183921998	0.91934	1.23396651691	0.81424	0.887668251991	0.94967	D	0.500915	0.92221	D	0.446076	0.92303	D	0.402981	0.92208	D	0.999846339225769	0.99309	D	0.994934	0.98279	D	0.89448833	0.90896	0.6421841	0.79091	0.89448833	0.90897	0.6421841	0.79092	-16.955	0.98960	D	.	.	0.975	0.90171	P	.;.;.	.;.;.	5.935491	0.94113	33	0.99915715425724771	0.98379	0.87355	0.46869	D	AEFGBCI	0.744114	0.68720	D	0.915618323092682	0.92502	11.46062	0.765850585504924	0.87336	9.187121	0.999957043512499	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.383000	0.52206	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:0.7026:0.2974	11.146	0.47654	571	0.70397	Phenylalanyl-tRNA synthetase|Aminoacyl-tRNA synthetase, class II;.;Phenylalanyl-tRNA synthetase|Aminoacyl-tRNA synthetase, class II	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4032.33	59	chr19	12924762	.	G	A	4032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1001;ExcessHet=0;FS=6.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.14;SOR=0.635	GT:AD:DP:GQ:PL	0/1:172,155:327:99:4046,0,4098	18	0	1	0
chr19	12948355	12948355	C	T	exonic	RAD23A	.	nonsynonymous SNV	RAD23A:NM_001270362:exon3:c.C413T:p.S138L,RAD23A:NM_001270363:exon3:c.C413T:p.S138L,RAD23A:NM_005053:exon3:c.C413T:p.S138L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00761703229564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381401815	7.709e-06	7.524e-06	6.94e-06	8.493e-06	1.006e-05	4.14e-06	3.02e-06	5.4e-06	3.95e-06	0	0	0	0	0	0	1.006e-05	0	0	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.088	0.32296	T	0.119	0.39954	T	0.011	0.15914	B	0.006	0.12133	B	0.139913	0.18327	N	0.508000	0.964194	0.81001	D	0.695	0.17993	N	2.18	0.19020	T	-2.05	0.47008	N	0.306	0.34552	-1.0705	0.09304	T	0.033	0.14160	T	10	0.19162971	0.34858	T	0.007617	0.20219	T	0.025	0.05312	0.215	0.13498	0.620768986564	0.61769	0.3793580263221205	0.37850	0.371181252797	0.38618	0.555374205112	0.46614	T	0.220472	0.58377	T	-0.182218	0.23405	T	-0.49952	0.22398	T	0.32501079798074	0.26024	T	0.758124	0.38180	T	0.1237665	0.29054	0.10573551	0.25424	0.1237665	0.29054	0.10573551	0.25424	-5.566	0.42481	T	.	.	0.078	0.06990	B	.;.;.	.;.;.	2.973435	0.39636	21.0	0.99738266837684864	0.83264	0.62263	0.31729	D	AEFBHCI	0.365367	0.45357	N	-0.38461273663288	0.26016	1.416709	-0.238633312389938	0.30164	1.696093	0.99999999947816	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	1.381000	0.33969	.	.	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.108	0.58673	528	0.73785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	36	chr19	12948355	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.511;DP=732;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.82;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	18	0	1	0
chr19	12954219	12954219	G	A	exonic	GADD45GIP1	.	nonsynonymous SNV	GADD45GIP1:NM_052850:exon2:c.C658T:p.P220S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00935001567292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427319803	2.054e-06	2.052e-06	2.725e-06	1.376e-06	6.002e-05	5.5e-07	1.5e-07	9.94e-06	3.72e-06	6.002e-05	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.198954	0.16650	N	0.466179	1	0.08975	N	1.845	0.48678	L	.	.	.	-0.61	0.18042	N	0.084	0.06059	-1.0031	0.29021	T	0.087	0.33830	T	9	0.06705937	0.09288	T	0.00935	0.24530	T	0.156	0.40720	0.193	0.10437	0.170165803431	0.16609	0.17601533079691076	0.17520	0.56640452808	0.52940	0.400590598583	0.25150	T	0.100218	0.40580	T	-0.357097	0.04296	T	-0.568574	0.15581	T	0.0242937693791311	0.01182	T	0.380662	0.09189	T	0.066843174	0.14420	0.04730087	0.06783	0.066843174	0.14420	0.04730087	0.06783	-3.195	0.12419	T	.	.	0.070	0.03372	B	.	.	0.996194	0.13742	10.29	0.71367451693058326	0.09605	0.16227	0.19290	N	AEFDGBHCI	0.171458	0.29843	N	-1.37360932789571	0.02887	0.1281575	-1.50476446573646	0.02307	0.1059055	0.999999973748722	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	4.3	-6.09	0.01963	-0.110000	0.10794	.	.	-0.668000	0.04312	0.000000	0.06391	0.551000	0.25468	0.157000	0.20547	0.4611:0.2739:0.2651:0.0	5.292	0.15039	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	358.33	33	chr19	12954219	.	G	A	358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=0.951;SOR=0.495	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,954	18	0	1	0
chr19	12954282	12954282	T	C	exonic	GADD45GIP1	.	nonsynonymous SNV	GADD45GIP1:NM_052850:exon2:c.A595G:p.K199E	.	418	1093	9	2	0	13	0.00591178	.	.	.	727913	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0009	0.00419329	0.0028	0.0003	0.0006	0	0	0.0015	0.0033	0.0137	0.0024903	385	154602	rs145414355	0.0018	0.0018	0.0015	0.0022	0.0140	0.0018	0.0018	0.0133	0.0130	0.0003	0.0009	0.0011	7.558e-05	1.872e-05	0.0047	0.0011	0.0021	0.0140	0.0016	0.0016	0.0013	0.0018	0.0172	0.0014	0.0013	0.0142	0.0131	0.0003	0	0.0030	0.0009	0	0	0.0034	0.0013	0.0019	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.013123	0.28942	N	0.341183	0.881393	0.28043	N	0.575	0.15311	N	.	.	.	1.05	0.01314	N	0.077	0.05162	-1.0044	0.28636	T	0.020	0.08453	T	9	0.0039177537	0.00075	T	.	.	.	0.047	0.12962	.	.	0.454518106513	0.45074	0.14724556037685593	0.14646	1.02440607633	0.75223	0.419444918633	0.27760	T	0.04082	0.25655	T	-0.583305	0.00184	T	-0.598977	0.12897	T	0.00895723556516004	0.00112	T	0.485951	0.14839	T	0.056462005	0.11112	0.05716752	0.10345	0.056462005	0.11112	0.05716752	0.10345	-3.856	0.21644	T	.	.	0.129	0.27553	B	.	.	1.445358	0.18657	13.85	0.82917178372435363	0.14444	0.66124	0.32970	D	AEFDGBHCI	0.098126	0.19779	N	-0.924937207054408	0.10261	0.4895015	-0.738075026482141	0.16016	0.8452361	0.999998625437814	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.04	1.37	0.21200	1.486000	0.35138	.	.	-0.114000	0.14653	1.000000	0.71638	0.997000	0.33255	0.197000	0.21808	0.0:0.193:0.4469:0.3601	3.733	0.08026	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006552	0.000000	0.000000	0.000000	0.000000	0.008621	0.015337	0.011364	0.02632	266.33	33	chr19	12954282	.	T	C	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.416;SOR=0.728	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1431	18	0	1	0
chr19	12969758	12969758	C	-	exonic	DAND5	.	frameshift deletion	DAND5:NM_152654:exon1:c.98delC:p.W34Gfs*54	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	856.29	33	chr19	12969757	.	TC	T	856.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=691;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.83;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	18	0	1	0
chr19	13074022	13074022	A	G	exonic	NFIX	.	nonsynonymous SNV	NFIX:NM_001365984:exon4:c.A811G:p.T271A,NFIX:NM_001365985:exon4:c.A811G:p.T271A,NFIX:NM_001271043:exon5:c.A838G:p.T280A,NFIX:NM_001271044:exon5:c.A790G:p.T264A,NFIX:NM_001365902:exon5:c.A814G:p.T272A,NFIX:NM_001365982:exon5:c.A814G:p.T272A,NFIX:NM_001365983:exon5:c.A673G:p.T225A,NFIX:NM_001378404:exon5:c.A790G:p.T264A,NFIX:NM_001378405:exon5:c.A862G:p.T288A,NFIX:NM_002501:exon5:c.A814G:p.T272A	Marshall-Smith syndrome, Autosomal dominant;Sotos syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00920706520434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.365	0.16717	T	0.001	0.07471	B	0.002	0.06944	B	0.002711	0.36068	N	0.256618	0.984179	0.40110	D	1.735	0.44892	L	0.97	0.42502	T	-1.79	0.42191	N	0.11	0.17140	-1.0054	0.28337	T	0.085	0.33185	T	10	0.13010448	0.24759	T	0.009207	0.24201	T	0.061	0.17616	0.282	0.23801	0.593402761518	0.59017	0.6261318516508152	0.62546	1.2810323199	0.82530	0.615586876869	0.55105	T	0.131466	0.46098	T	-0.145911	0.28954	T	-0.447367	0.27988	T	0.392924547195435	0.28675	T	0.882812	0.61998	D	0.048417006	0.08436	0.10097736	0.24159	0.048417006	0.08435	0.10097736	0.24159	-5.247	0.41905	T	0.07786687853018258	0.03689	0.066	0.03060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.257681	0.64674	24.7	0.98407966167634742	0.41137	0.92189	0.55144	D	AEFGBI	0.539784	0.55662	D	-0.209886050461031	0.32729	1.84899	-0.0790881604665785	0.36256	2.107644	0.99501477764479	0.33909	0.706548	0.73137	0	0.610034	0.51514	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.71	2.46	0.29032	5.175000	0.64857	9.155000	0.78965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.6983:0.3017:0.0:0.0	10.748	0.45393	744	0.52588	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	35	chr19	13074022	.	A	G	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=702;ExcessHet=0;FS=4.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.726;SOR=0.984	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1232	18	0	1	0
chr19	13135796	13135796	G	A	exonic	NACC1	.	nonsynonymous SNV	NACC1:NM_052876:exon2:c.G589A:p.G197S	.	420	1093	9	0	0	9	0.00410023	.	.	.	1651871	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.025	.	.	0.00738818	0.0193	0	0.0086	0	0	0	0	0.0400	0.0032988	510	154602	rs544132868	0.0022	0.0023	0.0012	0.0033	0.0366	0.0022	0.0021	0.0355	0.0350	0.0003	8.346e-05	3.972e-05	5.398e-05	0	0.0009	4.984e-05	0.0022	0.0366	0.0013	0.0013	0.0007	0.0020	0.0370	0.0012	0.0011	0.0326	0.0309	0.0004	0	0.0002	0	0	0	0	0	0	0.0370	0.563	0.06322	T	0.522	0.10391	T	0.002	0.09854	B	0.002	0.06944	B	0.970501	0.07775	N	1.013450	1	0.08975	N	0.55	0.14455	N	0.5	0.55608	T	-0.33	0.12472	N	0.107	0.09207	-0.9918	0.32141	T	0.062	0.25958	T	10	0.002429098	0.00036	T	.	.	.	0.025	0.05312	.	.	0.387475297304	0.38358	0.33872555631054485	0.33785	1.2172405034	0.81004	0.627360582352	0.56771	T	0.263764	0.63547	T	-0.608695	0.00129	T	-0.620665	0.11133	T	0.0148212602182175	0.00312	T	0.565643	0.19997	T	0.016871793	0.00228	0.035768565	0.02892	0.017642083	0.00290	0.035768565	0.02892	-3.941	0.22918	T	0.1760955156202523	0.22453	0.071	0.03887	B	.	.	-0.244243	0.02871	0.408	0.61029627525546448	0.06608	0.07540	0.13553	N	AEFBCI	0.063737	0.12337	N	-1.70913904861472	0.00810	0.03501118	-1.71789821543319	0.01060	0.04759748	0.967613190125758	0.28990	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.77	-5.03	0.02751	-0.330000	0.07968	0.283000	0.16788	-0.128000	0.13240	0.002000	0.15269	0.014000	0.20376	0.153000	0.20410	0.6761:0.0:0.3239:0.0	12.193	0.53594	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004654	0.000000	0.002817	0.002941	0.000000	0.000000	0.003205	0.015267	0.02632	496.33	33	chr19	13135796	.	G	A	496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.389;DP=739;ExcessHet=0;FS=3.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.503;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1014	18	0	1	0
chr19	13208815	13208815	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon46:c.C6724T:p.R2242W,CACNA1A:NM_001127222:exon46:c.C6721T:p.R2241W	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	37	1483	2	0	0	2	0.000673854	.	.	.	647724	Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|CACNA1A-related_disorder|not_provided	MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.467	0.763836811524	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760428308	7.878e-06	8.893e-06	7.086e-06	8.688e-06	2.704e-05	4.23e-06	3.09e-06	3.9e-06	2.82e-06	0	2.704e-05	0	0	0	0	8.278e-06	1.718e-05	0	6.582e-06	6.57e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.022	0.48642	D	0.026	0.56192	D	.	.	.	.	.	.	0.657997	0.05962	U	1.312740	0.995167	0.23357	N	2.32	0.66415	M	-3.88	0.97394	D	-3.67	0.70191	D	0.353	0.39962	0.295	0.87479	D	0.870	0.95677	D	10	0.7006326	0.72421	D	0.763837	0.98127	D	0.467	0.76222	0.304	0.27325	0.887781409754	0.88668	0.28405105164845756	0.28318	0.825720942332	0.67392	0.912779211998	0.97727	D	0.066841	0.33711	T	0.121	0.66471	D	-0.0577053	0.66493	T	0.936755418777466	0.60600	D	0.954605	0.84807	D	0.091813214	0.21525	0.114023216	0.27522	0.091813214	0.21525	0.114023216	0.27521	-6.751	0.52989	T	0.2716427936174184	0.36535	0.237	0.49304	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.552681	0.49947	22.9	0.9947149547208668	0.66365	0.65035	0.32603	D	AEFDGBHCI	0.612890	0.60079	D	0.051676088637897	0.44219	2.700024	-0.0357304530319911	0.38114	2.240936	0.999999984823797	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	3.92	1.52	0.22158	0.242000	0.17862	2.340000	0.32248	-0.423000	0.05224	0.586000	0.27634	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.4675:0.5325	9.006	0.35273	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	302.63	34	chr19	13208815	.	G	A	302.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=954;ExcessHet=0;FS=3.032;InbreedingCoeff=-0.0395;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.975;SOR=1.938	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1102	18	0	1	0
chr19	13286509	13286509	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon20:c.G3550A:p.V1184I,CACNA1A:NM_001127222:exon20:c.G3547A:p.V1183I	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	413495	Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0375576469943	8.2e-05	.	7.834e-05	0	0	0	0	5.516e-05	0.0033	0.0004	4.53e-05	7	154602	rs373224251	4.691e-05	6.049e-05	4.938e-05	4.438e-05	0.0004	3.708e-05	3.337e-05	8.068e-05	6.11e-05	3.519e-05	0	0	5.248e-05	0	0.0004	4.343e-05	3.761e-05	0.0002	3.316e-05	3.953e-05	1.294e-05	5.44e-05	7.34e-05	1.27e-05	8.04e-06	1.946e-05	1.039e-05	7.34e-05	0	0	0	0	0	0	2.949e-05	0	0	0.263	0.16412	T	0.324	0.18959	T	.	.	.	.	.	.	0.000972	0.00718	N	4.964030	0.999009	0.21718	N	0.925	0.23481	L	-3.76	0.95561	D	-0.33	0.12472	N	0.067	0.06587	-0.1490	0.78940	T	0.695	0.89488	D	10	0.09695348	0.17426	T	0.037558	0.57689	D	0.229	0.52916	.	.	0.706178385632	0.70362	0.24626844213492569	0.24540	0.0127536541527	0.01229	0.430630326271	0.29295	T	0.187558	0.54119	T	-0.191162	0.22086	T	-0.264059	0.48418	T	0.0290280684718116	0.01842	T	0.821218	0.48050	T	0.0601925	0.12321	0.042806953	0.05182	0.0601925	0.12320	0.042806953	0.05182	-2.082	0.04457	T	0.14665862508204894	0.16934	0.093	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.267017	0.28969	17.97	0.89274094206723142	0.18657	0.66276	0.33022	D	AEFDBI	0.167898	0.29461	N	-0.495623386615113	0.22223	1.185146	-0.325608361331903	0.27275	1.512282	2.77614086459784E-4	0.06300	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.3	3.19	0.35720	1.152000	0.31275	1.752000	0.28483	0.522000	0.23927	0.798000	0.29695	0.927000	0.28453	0.291000	0.24285	0.0:0.7856:0.0:0.2144	9.615	0.38850	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	838.33	33	chr19	13286509	.	C	T	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.498;DP=760;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=-1.045;SOR=0.918	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1361	18	0	1	0
chr19	13762718	13762718	A	C	exonic	CCDC130	.	nonsynonymous SNV	CCDC130:NM_001320568:exon9:c.A406C:p.T136P,CCDC130:NM_001320569:exon9:c.A694C:p.T232P,CCDC130:NM_001320566:exon10:c.A406C:p.T136P,CCDC130:NM_001320567:exon10:c.A406C:p.T136P,CCDC130:NM_030818:exon10:c.A841C:p.T281P,CCDC130:NM_001320561:exon11:c.A841C:p.T281P,CCDC130:NM_001320564:exon11:c.A841C:p.T281P,CCDC130:NM_001320565:exon11:c.A841C:p.T281P	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00193102371775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.285	0.21343	T	0.0	0.02946	B	0.001	0.04355	B	0.465254	0.04893	N	1.287990	1	0.08975	N	0.255	0.09829	N	1.56	0.29602	T	-0.12	0.08809	N	0.05	0.02462	-1.0274	0.21299	T	0.021	0.08963	T	10	0.0533711	0.05519	T	0.001931	0.03430	T	0.035	0.08770	0.5	0.59147	0.130388298395	0.12655	0.47113205587525625	0.47032	0.290629652234	0.31473	0.373237758875	0.21295	T	0.00386	0.08204	T	-0.396795	0.02430	T	-0.807745	0.01716	T	0.0808392369253689	0.10095	T	0.359864	0.08266	T	0.04630288	0.07727	0.04834456	0.07162	0.04630288	0.07727	0.04834456	0.07161	-2.539	0.06054	T	.	.	0.054	0.00382	B	.;.;.	.;.;.	-0.689995	0.01344	0.075	0.70151989004493276	0.09203	0.00683	0.02927	N	AEFDBI	0.042970	0.06733	N	-1.89374611471907	0.00354	0.01519043	-1.9768349749702	0.00342	0.01512824	0.999998553776917	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.23	-10.5	0.00234	-4.026000	0.00351	-2.850000	0.03298	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1611:0.3217:0.3465:0.1707	2.921	0.05414	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	771.33	35	chr19	13762718	.	A	C	771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.096;DP=712;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.53;SOR=0.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	18	0	1	0
chr19	13830776	13830776	G	A	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_023072:exon13:c.G2696A:p.R899H,ZSWIM4:NM_001367834:exon14:c.G3047A:p.R1016H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0380915739549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.442e-06	6.84e-06	2.737e-06	4.155e-06	4.685e-05	1.01e-06	7.3e-07	1.594e-05	9.37e-06	0	0	0	0	0	0	9.026e-07	0	4.685e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.128	0.34959	T	0.882	0.48483	P	0.405	0.44649	B	0.000841	0.41440	D	0.000000	0.834556	0.37680	D	1.7	0.43825	L	0.87	0.46412	T	-1.83	0.42957	N	0.257	0.29081	-1.0195	0.23877	T	0.102	0.37718	T	10	0.28691387	0.46274	T	0.038092	0.58018	D	0.082	0.23913	0.369	0.37850	0.258283824007	0.25425	0.3267905174749883	0.32592	0.745186244007	0.63473	0.860111057758	0.91127	D	0.023824	0.18118	T	-0.148592	0.28532	T	-0.451218	0.27563	T	0.730296015739441	0.42225	D	0.867913	0.56927	D	0.047067225	0.07985	0.037750933	0.03493	0.047067225	0.07984	0.037750933	0.03493	-4.546	0.31486	T	.	.	0.152	0.33778	B	.;.	.;.	3.476070	0.48518	22.6	0.9980053671330138	0.88550	0.69011	0.34020	D	AEFDBHCIJ	0.381293	0.46361	N	-0.213137558596452	0.32593	1.83985	-0.298113577546854	0.28161	1.567953	0.999999866086998	0.74766	0.651	0.46895	0	0.694456	0.67091	0	0.65145	0.50148	0	0.508809	0.08732	0	.	.	4.37	2.13	0.26445	3.793000	0.55188	8.207000	0.76811	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.019000	0.11356	0.0995:0.1719:0.7286:0.0	7.302	0.25602	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3219.33	97	chr19	13830776	.	G	A	3219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=917;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-2.097;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,120,1800:.	18	0	1	0
chr19	13892796	13892796	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon4:c.C29T:p.A10V,C19orf57:NM_001345847:exon4:c.C29T:p.A10V,C19orf57:NM_001345843:exon5:c.C800T:p.A267V,C19orf57:NM_001345844:exon5:c.C800T:p.A267V,C19orf57:NM_001345848:exon5:c.C800T:p.A267V,C19orf57:NM_024323:exon5:c.C383T:p.A128V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00574338980632	.	.	8.262e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs144225775	6.158e-06	6.156e-06	1.362e-06	1.1e-05	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.249	0.17183	T	0.417	0.20357	T	0.115	0.26429	B	0.046	0.24676	B	0.357780	0.13717	N	0.546274	1	0.08975	N	1.445	0.36358	L	1.45	0.32482	T	-2.09	0.47683	N	0.189	0.26354	-1.0264	0.21625	T	0.034	0.14552	T	10	0.057018697	0.06483	T	0.005743	0.14892	T	0.034	0.08419	0.106	0.01810	0.117506650769	0.11410	0.025983890148127582	0.02549	0.119547066601	0.13463	.	.	.	0.001953	0.12647	T	-0.437957	0.01330	T	-0.664217	0.07985	T	0.0517444163560867	0.05803	T	0.649735	0.26051	T	0.06685958	0.14426	0.059782658	0.11276	0.06685958	0.14426	0.059782658	0.11276	-4.129	0.25716	T	.	.	0.138	0.30103	B	.;.;.	.;.;.	1.468549	0.18922	14.00	0.93561345592943479	0.23399	0.05394	0.11260	N	AEFDBI	0.086319	0.17502	N	-0.968936512605697	0.09272	0.438157	-0.986635498947222	0.10085	0.5057319	0.00495426558766078	0.10775	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.42	0.828	0.17978	0.724000	0.25624	1.043000	0.23573	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.2109:0.0:0.5947:0.1945	3.63	0.07669	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	727.33	33	chr19	13892796	.	G	A	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=695;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.57;SOR=0.421	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr19	13918787	13918787	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C988T:p.P330S	Mental retardation, autosomal recessive 3, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00666876751023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	8.995e-07	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.08534	T	0.123	0.35710	T	0.22	0.31978	B	0.05	0.42046	B	0.063433	0.22025	N	0.473301	0.712071	0.30004	N	1.055	0.26876	L	1.41	0.33412	T	-0.85	0.23156	N	0.131	0.12627	-1.0086	0.27354	T	0.075	0.30335	T	10	0.037148535	0.02052	T	0.006669	0.17614	T	0.018	0.03083	0.247	0.18293	0.313518423057	0.30959	0.15715335145803444	0.15636	0.219639232792	0.24509	0.342034518719	0.16743	T	0.049388	0.28293	T	-0.238441	0.15547	T	-0.58028	0.14520	T	0.150620773434639	0.17153	T	0.670133	0.27879	T	0.020727854	0.00642	0.024034766	0.00418	0.020727854	0.00641	0.024034766	0.00418	-3.949	0.23038	T	.	.	0.068	0.03479	B	.;.	.;.	-0.056920	0.03906	0.859	0.30372808835735376	0.01658	0.30505	0.24099	N	AEFBI	0.100221	0.20157	N	-0.701742848799516	0.15972	0.8097316	-0.752851522459329	0.15652	0.8242762	9.87655111692007E-4	0.08091	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.83	2.67	0.30756	0.051000	0.14025	0.006000	0.13366	0.596000	0.33519	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.7135:0.1865:0.1	6.338	0.20515	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1269.33	35	chr19	13918787	.	C	T	1269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=752;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-0.474;SOR=0.886	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1423	18	0	1	0
chr19	13926560	13926560	G	A	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon18:c.G1984A:p.V662M	Mental retardation, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0350985892046	.	.	4.151e-05	0	0	0	0	7.514e-05	0	0	3.88e-05	6	154602	rs753360853	5.199e-05	5.199e-05	4.764e-05	5.638e-05	0.0005	4.258e-05	3.888e-05	0.0001	7.541e-05	0	0	3.826e-05	0	1.872e-05	0.0005	5.486e-05	6.623e-05	6.956e-05	5.258e-05	5.254e-05	6.424e-05	4.037e-05	0.0001	2.558e-05	1.831e-05	4.766e-05	3.339e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.002	0.79402	D	0.993	0.65571	D	0.714	0.54635	P	0.153541	0.17890	N	0.542395	0.993072	0.41828	D	2.865	0.83145	M	1.1	0.39050	T	-2.68	0.57275	D	0.579	0.60664	-0.6557	0.62465	T	0.191	0.54286	T	10	0.5460745	0.63991	D	0.035099	0.56119	D	0.169	0.43123	0.708	0.84418	0.338592109245	0.33472	0.47948629524552555	0.47868	0.691890328358	0.60625	0.591521859169	0.51708	T	0.491134	0.81563	T	-0.21182	0.19122	T	-0.350359	0.39164	T	0.58845440376541	0.35945	D	0.861114	0.55479	D	0.30796725	0.53610	0.34943536	0.60568	0.30796725	0.53610	0.34943536	0.60568	-10.763	0.78342	D	.	.	0.097	0.19559	B	.;.	.;.	3.693619	0.52643	23.3	0.99879999845505629	0.95653	0.88203	0.48027	D	AEFGBI	0.307956	0.41468	N	0.415428113267867	0.62269	4.440144	0.37992859408563	0.60327	4.219156	0.00470562778885585	0.10680	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.04	4.04	0.46262	1.798000	0.38449	0.986000	0.23159	-0.122000	0.13826	0.977000	0.34929	0.433000	0.24865	0.535000	0.29822	0.0:0.0:1.0:0.0	15.139	0.72277	929	0.16858	C2 domain|C2 domain|Freud, C2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4094.81	122	chr19	13926560	.	G	A	4094.81	.	AC=2;AF=0.053;AN=38;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.56;SOR=2.01	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	18	1	0	0
chr19	13934294	13934294	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon6:c.C626T:p.P209L,PODNL1:NM_001370095:exon6:c.C632T:p.P211L,PODNL1:NM_024825:exon6:c.C611T:p.P204L	.	423	1090	9	0	0	9	0.00411147	.	.	.	3463898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0408230760106	.	.	8.16e-05	0.0002	0	0	0	0	0.004	0.0006	2.59e-05	4	154602	rs777679884	1.661e-05	1.915e-05	1.136e-05	2.204e-05	0.0001	1.106e-05	9.24e-06	8.264e-05	6.414e-05	0	0	0	0	0	0	1.115e-05	0	0.0001	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.239e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.239e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.012	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000391	0.44960	D	0.000000	0.999914	0.81001	D	3.19	0.88972	M	1.9	0.32238	T	-7.27	0.95455	D	0.468	0.53445	-0.2197	0.77159	T	0.294	0.66602	T	10	0.64301467	0.69166	D	0.040823	0.59591	D	0.301	0.62179	0.359	0.36222	0.515715180578	0.51213	0.5058954073958112	0.50511	0.835004575118	0.67782	0.610998153687	0.54457	T	0.129637	0.45804	T	-0.187087	0.22688	T	-0.199098	0.54732	T	0.983963668346405	0.75439	D	0.876112	0.59977	D	0.78351694	0.82870	0.81243515	0.89055	0.78351694	0.82872	0.81243515	0.89056	-13.792	0.92536	D	.	.	0.292	0.56091	B	.;.;.;.;.	.;.;.;.;.	5.033582	0.83731	28.1	0.99906746876083963	0.97726	0.95236	0.63943	D	AEFDBHCI	0.869602	0.79021	D	0.890537474875987	0.91288	10.80841	0.781644438141896	0.88487	9.601435	0.999999988990375	0.74766	0.403107	0.06075	0	0.514364	0.08380	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.35	5.35	0.76297	4.237000	0.58477	11.500000	0.92961	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	15.954	0.79650	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001038	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1071.33	35	chr19	13934294	.	G	A	1071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=766;ExcessHet=0;FS=4.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.618;SOR=1.154	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1128	18	0	1	0
chr19	13952558	13952558	G	T	exonic	DCAF15	.	nonsynonymous SNV	DCAF15:NM_138353:exon1:c.G46T:p.G16C	.	363	1157	2	0	0	2	0.000863558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.32625998677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1019553364	1.799e-06	6.158e-06	1.714e-06	1.894e-06	4.119e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.073e-06	0	4.119e-05	1.32e-05	1.314e-05	1.29e-05	1.352e-05	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	0.011	0.55530	D	0.023	0.57104	D	0.003	0.11197	B	0.005	0.11217	B	0.147757	0.18071	U	0.436522	0.999306	0.81001	N	0.55	0.14455	N	.	.	.	-0.35	0.12847	N	0.251	0.28381	-1.0060	0.28156	T	0.072	0.29195	T	9	0.12015781	0.22754	T	0.32626	0.91621	D	0.159	0.41286	0.292	0.25400	0.082315109003	0.07666	0.346773224911592	0.34591	2.03166776097	0.94115	0.924069643021	0.98617	D	0.008771	0.08027	T	0.104336	0.64757	D	-0.0879048	0.64320	T	0.715667366981506	0.41480	D	0.523548	0.17131	T	0.21575762	0.44017	0.22494829	0.47423	0.21575762	0.44017	0.22494829	0.47422	-7.183	0.55359	T	.	.	0.245	0.47901	B	.	.	5.047053	0.84037	28.2	0.9968920737143524	0.79842	0.65844	0.32874	D	AEFGBHCIJ	0.136132	0.25670	N	-0.284367265935773	0.29752	1.652699	-0.149457570516949	0.33430	1.912142	0.999999737933758	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.01	2.96	0.33383	2.805000	0.47636	11.123000	0.86598	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8017:0.1983	10.289	0.42762	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	81.33	14	chr19	13952558	.	G	T	81.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.487;SOR=0.693	GT:AD:DP:GQ:PL	0/0:19,0:19:54:0,54,810	18	0	1	0
chr19	14053906	14053906	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1568C:p.G523A,PALM3:NM_001145028:exon7:c.G1766C:p.G589A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00482107082708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	8.62e-05	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.582	0.08448	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	0.93	0.44065	T	-0.73	0.20576	N	0.05	0.02179	-0.9959	0.31055	T	0.055	0.23375	T	9	0.047597438	0.04099	T	0.004821	0.12066	T	0.010	0.01040	0.204	0.11936	0.0297737177859	0.01360	0.043480154686174236	0.04293	.	.	0.316369116306	0.12871	T	0.003635	0.03040	T	-0.314852	0.07328	T	-0.69004	0.06386	T	0.0587676949799061	0.06973	T	0.392661	0.09777	T	0.053652357	0.10184	0.042563137	0.05096	0.053652357	0.10184	0.042563137	0.05096	-3.165	0.12058	T	.	.	0.091	0.13080	B	.	.	-0.004163	0.04254	1.054	0.87933678530610904	0.17591	0.08655	0.14553	N	AEFDBCI	0.172582	0.29962	N	-1.18619449748543	0.05208	0.2368802	-1.24326432024207	0.05231	0.2487758	0.00121004456635823	0.08334	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	3.68	-2.21	0.06581	-0.553000	0.06104	-1.137000	0.06220	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.4002:0.1834:0.4164	4.001	0.09070	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.33	42	chr19	14053906	.	C	G	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.302;DP=957;ExcessHet=0;FS=57.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.968;SOR=6.273	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R,PALM3:NM_001145028:exon7:c.G1765C:p.G589R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	141.21	42	chr19	14053907	.	C	G	141.21	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.59;DP=2147;ExcessHet=0.3672;FS=118.101;InbreedingCoeff=-0.1673;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.812;SOR=9.087	GT:AD:DP:GQ:PL	./.:111,0:111:0:0,0,2217	11	0	3	5
chr19	14055061	14055061	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G413T:p.S138I,PALM3:NM_001145028:exon7:c.G611T:p.S204I	.	414	1064	40	4	0	48	0.0220588	.	.	.	716206	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0107	0.00339457	0.0091	0.0047	0.0103	0	0	0.0090	0.0260	0.0113	0.0023544	364	154602	rs185854216	0.0103	0.0099	0.0102	0.0105	0.0119	0.0102	0.0101	0.0114	0.0114	0.0016	0.0039	0.0031	2.798e-05	0.0025	0.0107	0.0116	0.0099	0.0119	0.0068	0.0069	0.0075	0.0061	0.0118	0.0065	0.0063	0.0112	0.0109	0.0019	0	0.0052	0.0017	0	0.0011	0.0204	0.0118	0.0095	0.0073	0.002	0.72154	D	0.197	0.59732	T	0.076	0.24253	B	0.065	0.27321	B	0.004116	0.34102	N	0.177154	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-2.42	0.53096	N	0.075	0.04913	-1.0299	0.20487	T	0.028	0.12058	T	10	0.0059589446	0.00134	T	.	.	.	0.049	0.13647	.	.	0.119812018005	0.11559	0.08867927874923093	0.08800	.	.	0.354741573334	0.18618	T	0.003281	0.33640	T	-0.555945	0.00268	T	-0.560965	0.16287	T	0.0122600926185964	0.00198	T	0.657134	0.26688	T	0.16299227	0.36412	0.13598062	0.32542	0.16299227	0.36411	0.13598062	0.32541	-5.451	0.41407	T	.	.	0.098	0.16143	B	.;.	.;.	0.967823	0.13449	9.956	0.97078868628090398	0.32272	0.04107	0.09577	N	AEFDBI	0.109182	0.21694	N	-0.942614458466477	0.09859	0.4685076	-0.96274404192693	0.10628	0.5365172	7.66947260176222E-4	0.07776	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.69	1.0	0.18999	-0.263000	0.08695	0.014000	0.13486	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1793:0.4251:0.3956:0.0	6.761	0.22729	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014493	0.005556	0.014599	0.003759	0.071429	0.000000	0.023364	0.017544	0.07895	3451.79	39	chr19	14055061	.	C	A	3451.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.309;DP=889;ExcessHet=0.3672;FS=4.918;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.475	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	16	0	3	0
chr19	14073357	14073357	G	T	exonic	MISP3	.	nonsynonymous SNV	MISP3:NM_001291291:exon1:c.G48T:p.E16D	.	427	1078	14	3	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.804382951025	.	0.000399361	0.0026	0	0	0	0	0.0051	0	0.0019	0.0012484	193	154602	rs558846444	0.0051	0.0045	0.0052	0.0050	0.0093	0.0049	0.0049	0.0069	0.0065	0.0018	0.0043	0.0025	0	0.0011	0.0093	0.0069	0.0052	0.0026	0.0044	0.0044	0.0050	0.0038	0.0071	0.0042	0.0040	0.0066	0.0064	0.0017	0.0011	0.0041	0.0023	0	0.0014	0.0136	0.0071	0.0052	0.0039	0.0	0.91255	D	0.144	0.92824	T	.	.	.	.	.	.	0.649054	0.10530	U	0.736631	.	.	.	.	.	.	-0.91	0.75001	T	-2.57	0.55501	D	0.445	0.48319	-0.2100	0.77414	T	0.509	0.81556	D	8	0.008499801	0.00193	T	0.804383	0.98471	D	0.392	0.70764	.	.	0.365317461125	0.36143	0.6604901006505629	0.65986	.	.	.	.	.	0.295896	0.66854	T	-0.277234	0.10964	T	-0.166438	0.57769	T	0.0397339557638784	0.03642	T	0.741926	0.36121	T	0.05096804	0.09291	0.06848929	0.14310	0.05096804	0.09291	0.06848929	0.14310	-7.945	0.60694	D	.	.	0.981	0.91241	P	.;.	.;.	3.482376	0.48638	22.6	0.99706050886198216	0.81005	0.15976	0.19172	N	ALL	0.108891	0.21647	N	0.0636980476317612	0.44775	2.745442	-0.0279558745844798	0.38458	2.266035	0.9999999919658	0.74766	0.623204	0.39778	0	0.552344	0.17405	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.64	1.31	0.20837	1.876000	0.39224	.	.	-0.253000	0.07101	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.2856:0.0:0.7144:0.0	5.639	0.16831	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr19	14073357	.	G	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=704;ExcessHet=0;FS=3.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.76;SOR=0.395	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1005	18	0	1	0
chr19	14085461	14085461	C	A	exonic	C19orf67	.	nonsynonymous SNV	C19orf67:NM_001277378:exon1:c.G167T:p.G56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00373620905583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.338e-06	4.104e-06	2.855e-06	5.861e-06	0.0002	1.56e-06	1.03e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.455e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	0	0.06538	N	.	.	.	-2.01	0.46337	N	0.184	0.19995	-1.0236	0.22541	T	0.043	0.18368	T	6	0.07279736	0.10914	T	0.003736	0.08651	T	0.074	0.21613	0.13	0.03494	0.226586394389	0.22295	0.13819022387102511	0.13743	.	.	.	.	.	0.022876	0.17561	T	-0.17588	0.24349	T	-0.490416	0.23347	T	0.0789640754012081	0.09853	T	0.426357	0.11459	T	0.045714054	0.07531	0.048958078	0.07382	0.045714054	0.07531	0.048958078	0.07382	-4.767	0.34204	T	.	.	0.095	0.15025	B	.	.	2.314311	0.29627	18.18	0.93614696543671072	0.23480	0.06042	0.12011	N	AEFDBI	0.063269	0.12218	N	-0.907963416043655	0.10655	0.5101964	-1.02500325970678	0.09237	0.4583993	0.999940749814573	0.47345	0.475973	0.10046	0	0.601575	0.49859	0	0.606814	0.37721	0	0.727631	0.95156	0	.	.	3.65	0.155	0.14200	0.800000	0.26703	.	.	-0.202000	0.08738	0.012000	0.18695	0.018000	0.20648	0.005000	0.06747	0.0:0.5559:0.2046:0.2395	3.752	0.08096	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1503.33	35	chr19	14085461	.	C	A	1503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.088;DP=780;ExcessHet=0;FS=4.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.562;SOR=0.402	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr19	14089318	14089318	A	T	exonic	SAMD1	.	nonsynonymous SNV	SAMD1:NM_138352:exon3:c.T681A:p.D227E	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0003	0.00459265	0.0065	0.0004	0	0	0.0015	0.0009	0.0045	0.0165	0.0013971	216	154602	rs369660618	0.0016	0.0015	0.0011	0.0021	0.0184	0.0015	0.0015	0.0176	0.0173	0.0002	0.0003	0.0001	0.0002	0.0002	0.0005	0.0005	0.0018	0.0184	0.0010	0.0010	0.0007	0.0013	0.0175	0.0009	0.0008	0.0145	0.0133	0.0002	0	0.0005	0.0003	0.0004	0.0002	0	0.0007	0.0009	0.0175	0.597	0.05686	T	0.201	0.27503	T	0.0	0.02946	B	0.0	0.01387	B	0.154552	0.02990	N	1.811230	1	0.08975	N	.	.	.	0.99	0.41750	T	0.05	0.06369	N	0.145	0.14622	-1.0320	0.19809	T	0.031	0.13286	T	10	0.0026105046	0.00040	T	.	.	.	0.065	0.18881	0.137	0.04097	0.32053947749	0.31673	0.03406583485395391	0.03354	0.061667197177	0.06870	0.627045929432	0.56726	T	0.002252	0.01652	T	-0.606021	0.00134	T	-0.627689	0.10591	T	0.00146727011949763	0.00015	T	0.316968	0.06317	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02861	B	.	.	-1.769472	0.00168	0.002	0.67428741069162867	0.08352	0.00501	0.02358	N	AEFDGBI	0.039665	0.05794	N	-1.85456986108748	0.00425	0.01827626	-1.92910683814722	0.00428	0.01894802	0.99999999982022	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.651492	0.60203	0	.	.	3.0	-5.99	0.02028	-2.109000	0.01422	.	.	-0.555000	0.04881	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.4119:0.3026:0.1188:0.1668	1.422	0.02176	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004745	0.000000	0.005245	0.003185	0.000000	0.011364	0.000000	0.009009	0.02632	1009.33	33	chr19	14089318	.	A	T	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=753;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.926;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1484:.	18	0	1	0
chr19	14451954	14451954	C	T	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon7:c.C1096T:p.R366W,PKN1:NM_213560:exon7:c.C1114T:p.R372W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0891595112698	8.1e-05	.	8.215e-05	0	9.571e-05	0	0	9.896e-05	0	0.0001	7.12e-05	11	154602	rs370691590	7.59e-05	7.798e-05	6.732e-05	8.456e-05	0.0003	6.437e-05	5.99e-05	0.0002	0.0002	0	0.0003	0	0	0	0	7.131e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0006	6.507e-05	5.319e-05	0.0003	0.0002	2.405e-05	0	0.0006	0	0	0	0	7.35e-05	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.77976	D	0.000148	0.49130	U	0.077562	0.873424	0.35607	D	1.735	0.44892	L	2.06	0.20523	T	-2.27	0.52128	N	0.612	0.62866	-0.8560	0.51548	T	0.116	0.41075	T	10	0.5281029	0.63026	D	0.08916	0.75273	D	0.113	0.31778	.	.	0.374301178862	0.37045	0.4709035393293721	0.47009	0.990633679352	0.74059	0.708208084106	0.68333	T	0.133231	0.46378	T	-0.225945	0.17188	T	-0.268844	0.47937	T	0.436464935541153	0.30299	T	0.948805	0.80311	D	0.10717153	0.25341	0.1399092	0.33367	0.10717153	0.25341	0.1399092	0.33366	-10.104	0.75312	D	.	.	0.444	0.61927	A	.;.	.;.	4.573111	0.72174	25.8	0.99913246200281547	0.98238	0.86220	0.45459	D	AEFDBI	0.400783	0.47553	N	0.461853480750997	0.64879	4.752636	0.371622180542998	0.59822	4.163347	2.25529318696861E-4	0.06048	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.34	3.19	0.35720	1.287000	0.32889	.	.	0.596000	0.33519	0.689000	0.28522	0.919000	0.28284	0.891000	0.42908	0.2145:0.7855:0.0:0.0	10.117	0.41767	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	766.33	36	chr19	14451954	.	C	T	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.08;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.58;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1073	18	0	1	0
chr19	14458262	14458262	C	T	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon9:c.C1306T:p.R436W,PKN1:NM_213560:exon9:c.C1324T:p.R442W	.	387	1127	8	0	0	8	0.00353669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0287725303051	0.0011	0.000998403	0.0013	0.0004	0.0005	0	0	0.0006	0	0.0061	0.0010931	169	154602	rs35132656	0.0008	0.0008	0.0007	0.0010	0.0054	0.0008	0.0008	0.0050	0.0048	0.0002	0.0005	0.0006	0	1.872e-05	0.0028	0.0006	0.0007	0.0054	0.0006	0.0006	0.0006	0.0006	0.0039	0.0005	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0009	0.0002	0	0	0.0006	0.0014	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.925	0.71341	D	0.039511	0.24162	U	0.350112	0.576939	0.32342	D	3.095	0.87515	M	1.93	0.22881	T	-6.48	0.91741	D	0.625	0.64223	-0.6932	0.60759	T	0.140	0.45847	T	10	0.016739577	0.00354	T	0.028773	0.51400	D	0.209	0.49871	.	.	0.547422301856	0.54398	0.7786340224478328	0.77814	1.0828414072	0.77184	0.76443362236	0.76591	T	0.457017	0.79555	T	-0.283391	0.10311	T	-0.177098	0.56790	T	0.12345003417635	0.14764	T	0.985401	0.94968	D	0.3336085	0.55764	0.37511083	0.62662	0.3336085	0.55764	0.37511083	0.62662	-10.668	0.77947	D	.	.	0.572	0.68048	P	.;.	.;.	3.815796	0.55062	23.6	0.99893318694418931	0.96666	0.72300	0.35393	D	AEFGBI	0.542812	0.55840	D	0.212358418882343	0.51797	3.358268	0.0499868895560545	0.42072	2.538334	0.0124051672815696	0.12323	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.14	-2.36	0.06282	0.033000	0.13642	.	.	-0.224000	0.07868	0.931000	0.32310	0.001000	0.17328	0.997000	0.79791	0.6371:0.3629:0.0:0.0	12.423	0.54864	964	0.07719	Serine/threonine-protein kinase N, C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.015152	0.002717	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	1870.33	33	chr19	14458262	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=768;ExcessHet=0;FS=2.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.29;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1388	18	0	1	0
chr19	14482811	14482811	G	A	exonic	GIPC1	.	nonsynonymous SNV	GIPC1:NM_202470:exon2:c.C166T:p.P56S,GIPC1:NM_202468:exon3:c.C166T:p.P56S,GIPC1:NM_005716:exon4:c.C166T:p.P56S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.201137548556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.387e-06	2.052e-06	0	2.792e-06	2.371e-05	2.3e-07	9e-08	3.94e-06	1.47e-06	0	0	0	0	0	0	0	0	2.371e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.1	0.38742	T	0.993	0.65571	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-1.57	0.81900	D	-4.22	0.75854	D	0.422	0.46180	0.399	0.89080	D	0.685	0.89107	D	10	0.53529	0.63412	D	0.201138	0.86747	D	0.483	0.77271	0.275	0.22687	0.945584690558	0.94501	0.5893846311344416	0.58868	0.741965471771	0.63314	0.872856259346	0.92974	D	0.523922	0.83402	D	0.164577	0.70624	D	-0.00137364	0.70247	D	0.992032766342163	0.82423	D	0.889211	0.62120	D	0.29329553	0.52298	0.33484784	0.59305	0.29329553	0.52298	0.33484784	0.59305	-11.846	0.84092	D	.	.	0.812	0.77859	P	.;.;.	.;.;.	5.121155	0.85661	28.7	0.9991995041674836	0.98654	0.98701	0.85758	D	AEFBI	0.801952	0.72752	D	0.712495326209224	0.80450	7.297235	0.66885049860225	0.80021	7.207316	0.999991531692891	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	6.920000	0.75619	.	.	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.330	0.73907	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1285.33	34	chr19	14482811	.	G	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=717;ExcessHet=0;FS=0.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.063;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.07895	3412.79	36	chr19	14695076	.	C	G	3412.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.362;DP=970;ExcessHet=0.3672;FS=0.852;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.384;SOR=0.75	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	16	0	3	0
chr19	14751435	14751435	C	T	splicing	ADGRE2	NM_013447:exon16:c.2024+1G>A;NM_001271052:exon14:c.1850+1G>A	.	.	Vibratory urticaria, Autosomal dominant	421	1095	6	0	0	6	0.00273224	1.0000	0.888	.	2130891	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0004	0	8.643e-05	0	0	0.0002	0	0.0019	0.0003363	52	154602	rs142522626	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.974e-05	0.0003	0	0	9.362e-05	0.0007	0.0002	0.0003	0.0018	0.0003	0.0003	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	4.814e-05	0	0.0004	0	0	9.436e-05	0	0.0004	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.476354	0.00777	T	-0.476041	0.24869	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.344693	0.30055	18.32	0.87569610693784061	0.17322	0.62852	0.31908	D	AEFBI	.	.	.	0.532798330345723	0.69041	5.301074	0.211734929510506	0.50498	3.241162	0.451600599536237	0.20545	0.099367	0.02607	0	0.084543	0.02171	0	0.137589	0.03823	0	0.062806	0.01542	0	0.901935	0.56879	4.25	4.25	0.49658	3.640000	0.54086	.	.	0.542000	0.25261	0.553000	0.27369	0.318000	0.24308	0.004000	0.06068	0.0:1.0:0.0:0.0	12.509	0.55341	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1350.33	48	chr19	14751435	.	C	T	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.069;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr19	14799940	14799940	A	G	exonic	OR7C1	.	nonsynonymous SNV	OR7C1:NM_198944:exon1:c.T197C:p.L66P,OR7C1:NM_001370485:exon5:c.T347C:p.L116P	.	432	1085	5	0	0	5	0.00229885	.	.	.	2337348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.326	0.0248273427601	0.0006	0.000599042	0.0007	9.617e-05	0.0005	0.0001	0	0.0007	0.0033	0.0013	0.0005951	92	154602	rs145774543	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0012	0.0011	0.0001	0.0004	0.0010	0	0	0.0016	0.0005	0.0005	0.0014	0.0004	0.0004	0.0004	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0002	0.0006	0.0002	0	0	0.0005	0.0014	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.010481	0.29911	U	0.000000	0.999961	0.52935	D	4.17	0.97676	H	6.35	0.00549	T	-5.85	0.88495	D	0.747	0.74644	-1.1739	0.00468	T	0.016	0.06616	T	10	0.35201013	0.52038	T	0.024827	0.47815	T	0.326	0.64826	.	.	0.552822141497	0.54940	0.8463667177452696	0.84597	1.0451690455	0.75935	0.257679343224	0.04619	T	0.122631	0.44644	T	-0.0665279	0.41879	T	0.0962827	0.76662	D	0.258438520966617	0.23247	T	0.544446	0.18591	T	0.9370023	0.94943	0.84512174	0.91178	0.9370023	0.94943	0.84512174	0.91179	-8.504	0.64456	D	.	.	0.362	0.58832	A	.;.;.;.	.;.;.;.	3.328261	0.45808	22.2	0.99840325054939438	0.92057	0.93987	0.59773	D	AEFBI	0.908501	0.86388	D	0.720371134325402	0.80967	7.413433	0.493731924707153	0.67573	5.102243	0.216862224196471	0.18308	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.64	3.64	0.40864	7.691000	0.83459	.	.	0.522000	0.23927	0.990000	0.36992	0.039000	0.21534	0.083000	0.17415	1.0:0.0:0.0:0.0	10.523	0.44117	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	966.33	43	chr19	14799940	.	A	G	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.477;DP=798;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.236;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr19	14840998	14840998	T	C	exonic	OR7A10	.	nonsynonymous SNV	OR7A10:NM_001005190:exon1:c.A880G:p.N294D	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0014457415687	0.0002	.	0.0004	0	0	0	0	0.0003	0.0011	0.0018	0.0003363	52	154602	rs144304833	0.0002	0.0002	0.0002	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	4.476e-05	0	0	0	0.0038	9.533e-05	0.0003	0.0016	0.0001	0.0001	0.0001	8.068e-05	0.0004	6.511e-05	5.322e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.974	0.73157	D	0.001146	0.40056	U	0.000000	0.998697	0.21979	N	4.34	0.98424	H	0.8	0.48769	T	-3.73	0.70920	D	0.505	0.53708	-0.5716	0.65951	T	0.401	0.75259	T	10	0.06936854	0.09942	T	0.001446	0.02164	T	0.165	0.42395	.	.	0.74740176769	0.74512	0.04333641262844622	0.04278	0.287481358781	0.31149	0.216082200408	0.01096	T	0.004738	0.04154	T	-0.439293	0.01306	T	-0.422805	0.30754	T	0.285706239119403	0.24411	T	0.865813	0.56549	D	0.88262904	0.89885	0.83496654	0.90509	0.88262904	0.89886	0.83496654	0.90509	-10.314	0.75770	D	.	.	0.436	0.61516	A	.;.	.;.	3.480016	0.48587	22.6	0.99582780277900851	0.73099	0.80349	0.40010	D	AEBI	0.315500	0.42005	N	0.352869814235809	0.58891	4.064262	0.0669491088574733	0.42898	2.602959	3.73846910783212E-4	0.06745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	1.71	0.23429	2.304000	0.43315	.	.	0.571000	0.28931	0.959000	0.33545	0.997000	0.33255	0.343000	0.25501	0.0:0.1377:0.0:0.8623	6.025	0.18876	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1165.33	34	chr19	14840998	.	T	C	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=738;ExcessHet=0;FS=1.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.35;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	18	0	1	0
chr19	14841642	14841642	G	A	exonic	OR7A10	.	nonsynonymous SNV	OR7A10:NM_001005190:exon1:c.C236T:p.P79L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00228677758081	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs772301470	3.42e-06	3.42e-06	4.084e-06	2.75e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.023	0.57104	D	0.99	0.63424	D	0.603	0.50895	P	0.001553	0.38671	U	0.000000	0.999577	0.47641	D	3.55	0.93268	H	4.6	0.01868	T	-9.48	0.98437	D	0.718	0.72031	-1.0704	0.09326	T	0.024	0.10013	T	10	0.929333	0.92276	D	0.002287	0.04397	T	0.242	0.54781	0.748	0.87905	0.589635058153	0.58638	0.3591710944444259	0.35831	0.277466222095	0.30228	0.280374884605	0.07544	T	0.006209	0.05647	T	-0.170962	0.25089	T	-0.314223	0.43204	T	0.98950457572937	0.79737	D	0.871813	0.57812	D	0.29521766	0.52473	0.25876144	0.51613	0.29521766	0.52472	0.25876144	0.51612	-8.005	0.61105	D	.	.	0.313	0.53967	B	.;.	.;.	3.151391	0.42666	21.6	0.98960651770368935	0.49324	0.98508	0.83525	D	AEFBI	0.611653	0.60002	D	0.47465897134105	0.65616	4.844812	0.308067706909178	0.56011	3.764212	0.923614596676026	0.26750	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.79	2.79	0.31792	8.436000	0.90163	.	.	0.579000	0.29447	1.000000	0.71638	0.470000	0.25048	0.011000	0.09372	0.0:0.0:1.0:0.0	11.421	0.49225	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2709.33	34	chr19	14841642	.	G	A	2709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=1305;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.339;SOR=0.609	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,114,1586	18	0	1	0
chr19	15011213	15011213	G	T	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon1:c.G388T:p.A130S	.	432	1076	12	2	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0218902079784	.	.	0.0014	0	0	0	0	0	0	0.0034	0.0001682	26	154602	rs758442019	0.0003	0.0003	0.0003	0.0004	0.0032	0.0003	0.0003	0.0020	0.0016	0	4.473e-05	4.913e-05	0	0	0.0032	0.0003	0.0006	0.0015	0.0001	0.0001	0.0001	0.0001	0.0006	8.675e-05	7.265e-05	0.0002	9.036e-05	0	0	0.0002	0	0	0	0.0034	0.0002	0	0.0006	0.075	0.34444	T	0.032	0.53426	D	0.979	0.59044	D	0.801	0.58220	P	0.030104	0.25356	N	0.257682	1	0.08975	N	2.48	0.72069	M	2.42	0.15376	T	-1.26	0.31778	N	0.512	0.54322	-1.1097	0.03096	T	0.064	0.26597	T	10	0.021319449	0.00508	T	0.02189	0.44718	T	0.035	0.08770	0.235	0.16457	0.539567288477	0.53609	0.21797501179695666	0.21713	1.10494106084	0.77866	0.803276479244	0.82464	D	0.003582	0.02990	T	-0.518897	0.00447	T	-0.523063	0.19986	T	0.0693420693064582	0.08559	T	0.592841	0.21881	T	0.10957923	0.25907	0.08887534	0.20749	0.10957923	0.25907	0.08887534	0.20748	-4.446	0.30176	T	.	.	0.135	0.29200	B	.	.	3.437366	0.47799	22.5	0.99412228519720924	0.63358	0.12472	0.17290	N	AEFDBIJ	0.071027	0.14123	N	0.182429317866329	0.50356	3.226339	0.0832029465231851	0.43703	2.666706	0.997490112875237	0.35680	0.623204	0.39778	0	0.573888	0.26702	0	0.378051	0.06126	2	0.613276	0.41899	0	.	.	3.77	2.72	0.31179	1.236000	0.32286	.	.	0.672000	0.70159	0.411000	0.26257	1.000000	0.68203	0.472000	0.28386	0.1394:0.0:0.8606:0.0	6.228	0.19929	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003135	0.000000	0.001393	0.003012	0.000000	0.008929	0.006369	0.000000	0.02632	828.33	33	chr19	15011213	.	G	T	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=717;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1349:.	18	0	1	0
chr19	15021909	15021909	G	A	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon6:c.G1241A:p.R414H	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00508562567452	7.7e-05	0.000998403	0.0009	0	0.0002	0	0	0	0	0.0064	0.0007762	120	154602	rs144636554	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	0	0	2.519e-05	0	0.0009	7.196e-06	0.0005	0.0065	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	4.411e-05	0.0005	0.0060	0.35	0.12305	T	0.29	0.21011	T	0.113	0.26349	B	0.042	0.24114	B	0.019599	0.27223	N	0.243987	0.99192	0.23962	N	2.135	0.59519	M	4.32	0.02387	T	0.43	0.03297	N	0.258	0.29197	-0.9928	0.31880	T	0.009	0.03403	T	10	0.009946078	0.00223	T	0.005086	0.12877	T	0.027	0.05988	.	.	0.394990421082	0.39112	0.19193225047649845	0.19111	0.499625921639	0.48394	0.346042126417	0.17338	T	0.001958	0.01365	T	-0.516373	0.00462	T	-0.511342	0.21176	T	0.0712384688373011	0.08824	T	0.660434	0.26965	T	0.05977757	0.12190	0.06423472	0.12844	0.05977757	0.12190	0.06423472	0.12843	-4.673	0.33076	T	.	.	0.091	0.13268	B	.	.	1.249520	0.16459	12.55	0.38726902015103715	0.02629	0.05847	0.11790	N	AEFDBI	0.070678	0.14041	N	-0.486620417560714	0.22519	1.202968	-0.478136453500539	0.22757	1.237641	3.65166495768053E-4	0.06707	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.7	0.31007	0.029000	0.13555	.	.	0.676000	0.76740	0.024000	0.20007	0.123000	0.22922	0.185000	0.21450	0.1259:0.0:0.8741:0.0	7.336	0.25784	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.000000	0.002732	0.000000	0.000000	0.000000	0.003106	0.003817	0.02632	1588.33	40	chr19	15021909	.	G	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=875;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.326;SOR=0.791	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1602,0,1698	18	0	1	0
chr19	15113646	15113646	C	T	exonic	SYDE1	.	nonsynonymous SNV	SYDE1:NM_001300910:exon8:c.C1690T:p.P564S,SYDE1:NM_033025:exon8:c.C1891T:p.P631S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0162308620455	.	0.000199681	0.0005	0	8.678e-05	0	0	0	0.0011	0.0035	0.0003752	58	154602	rs562227676	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0	5.399e-06	0.0001	0.0033	7.22e-05	7.217e-05	5.138e-05	9.395e-05	0.0021	3.967e-05	3.124e-05	0.0011	0.0009	0	0	0	0	0	9.409e-05	0	0	0	0.0021	0.355	0.12109	T	0.769	0.04492	T	0.264	0.35330	B	0.119	0.32162	B	0.074926	0.21254	N	0.445339	0.824424	0.28841	N	1.5	0.37844	L	1.12	0.38718	T	0.14	0.05405	N	0.051	0.02559	-1.0653	0.10479	T	0.063	0.26029	T	10	0.004817724	0.00102	T	0.016231	0.37384	T	0.057	0.16321	0.121	0.02793	0.082315109003	0.07666	0.4865272323721326	0.48572	0.467273448873	0.46111	0.493016570807	0.37857	T	0.00119	0.03897	T	-0.532009	0.00374	T	-0.539707	0.18325	T	0.036257646411959	0.03025	T	0.684232	0.29249	T	0.0542301	0.10375	0.06812593	0.14186	0.0542301	0.10375	0.06812593	0.14186	-4.794	0.34521	T	.	.	0.086	0.12465	B	.;.;.	.;.;.	1.613202	0.20610	14.83	0.97430068564943484	0.33921	0.45507	0.27554	N	AEFDBHCI	0.280223	0.39409	N	-0.447378893715291	0.23828	1.282433	-0.368026960017951	0.25956	1.430679	0.999998635112124	0.74766	0.460665	0.09802	0	0.514364	0.08380	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	5.52	4.49	0.54177	0.536000	0.22838	.	.	0.549000	0.26987	0.000000	0.06391	0.972000	0.29809	0.122000	0.19250	0.0:0.9041:0.0:0.0959	9.289	0.36936	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1830.33	34	chr19	15113646	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=781;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.074;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr19	15372993	15372993	G	T	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C719A:p.P240H	.	427	1083	12	0	0	12	0.00550964	.	.	.	727979	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	7.7e-05	0.00299521	0.0021	0.0001	0.0001	0	0	0.0003	0.0089	0.0198	0.0016947	262	154602	rs374389542	0.0009	0.0009	0.0006	0.0013	0.0137	0.0009	0.0009	0.0130	0.0127	0.0002	2.565e-05	0.0003	5.12e-05	7.92e-05	0.0031	0.0001	0.0009	0.0137	0.0004	0.0004	0.0003	0.0005	0.0118	0.0003	0.0003	0.0093	0.0085	2.405e-05	0	6.536e-05	0	0	9.409e-05	0	4.411e-05	0.0009	0.0118	0.003	0.68238	D	0.098	0.39040	T	0.983	0.60381	D	0.533	0.48638	P	0.831388	0.09103	N	0.915529	1	0.20372	N	2.175	0.60977	M	0.86	0.46777	T	0.07	0.06138	N	0.177	0.19055	-0.9828	0.34351	T	0.144	0.46660	T	10	0.0064412057	0.00146	T	.	.	.	0.093	0.26882	.	.	0.260580752073	0.25663	0.31237265752293847	0.31150	0.1727655943	0.19448	0.348351150751	0.17679	T	0.105377	0.41579	T	-0.506549	0.00525	T	-0.488723	0.23524	T	0.0312971576140154	0.02193	T	0.490351	0.15073	T	0.06584637	0.14113	0.07715346	0.17160	0.06584637	0.14112	0.07715346	0.17160	-5.77	0.44312	T	.	.	0.126	0.26638	B	.	.	2.566081	0.33239	19.28	0.99237374116459753	0.56437	0.69904	0.34373	D	AEFDBCI	0.078558	0.15853	N	-0.0249957057307379	0.40727	2.42354	-0.137233861251097	0.33903	1.944346	0.0822063510068192	0.15894	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	2.48	0.29194	1.800000	0.38469	.	.	-0.122000	0.13826	0.991000	0.37257	1.000000	0.68203	0.071000	0.16709	0.0:0.1836:0.6539:0.1625	8.692	0.33435	656	0.62345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003543	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.007576	0.02632	710.33	34	chr19	15372993	.	G	T	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.242;DP=710;ExcessHet=0;FS=12.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.18;SOR=1.945	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1242	18	0	1	0
chr19	15428242	15428242	G	C	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371603:exon4:c.C1213G:p.P405A,WIZ:NM_001371589:exon8:c.C3682G:p.P1228A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0912113163174	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915328993	5.149e-05	4.857e-05	4.293e-05	6.028e-05	0.0002	4.162e-05	3.821e-05	4.105e-05	3.689e-05	0	0	0	0	0	0.0002	5.199e-05	0.0001	7.609e-05	7.229e-05	7.223e-05	7.71e-05	6.724e-05	0.0001	3.972e-05	3.128e-05	7.911e-05	5.996e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	0.073	0.34800	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.05	0.06369	N	0.295	0.33360	-1.0229	0.22769	T	0.035	0.15160	T	5	0.21416703	0.37930	T	0.091211	0.75663	D	0.328	0.65026	0.252	0.19067	0.220282294035	0.21616	.	.	.	.	.	.	.	0.002465	0.01855	T	-0.206123	0.19927	T	-0.400696	0.33304	T	0.076228805806177	0.09498	T	0.615039	0.23503	T	.	.	.	.	.	.	.	.	-5.089	0.37791	T	.	.	0.056	0.00533	B	.;.	.;.	3.379099	0.46730	22.3	0.96813185003349811	0.31195	0.98584	0.84372	D	AEFDGBCI	0.751521	0.69230	D	0.146795281406208	0.48660	3.075594	0.227026901639188	0.51353	3.318513	0.117231486935047	0.16796	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.11	4.07	0.46726	2.055000	0.40971	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1727:0.0:0.8273:0.0	8.941	0.34891	654	0.62520	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	602.33	32	chr19	15428242	.	G	C	602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.085;DP=701;ExcessHet=0;FS=14.026;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.251;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	18	0	1	0
chr19	15439120	15439125	TCCTCC	-	exonic	WIZ	.	nonframeshift deletion	WIZ:NM_001371589:exon4:c.1869_1874del:p.E623_E624del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0	0	0.0031	3.84e-05	1	26028	rs760088889	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0023	0.0003	6.418e-05	0	0	0	0	4.698e-05	0.0001	0.0028	0.0001	0.0001	0.0001	0.0001	0.0013	8.811e-05	7.375e-05	0.0006	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	220.4	7	chr19	15439119	.	ATCCTCC	A	220.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.278;DP=233;ExcessHet=0;FS=0;InbreedingCoeff=-0.0338;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=0.618;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:45:.:.:0,45,675:.	18	0	1	0
chr19	15439663	15439663	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.G1331A:p.S444N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00383085852227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261072	0.15314	N	0.589164	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.8018	0.55038	T	0.017	0.06902	T	7	0.26831228	0.44349	T	0.003831	0.08961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.38208	B	.	.	3.019464	0.40410	21.2	0.98982001896632987	0.49760	0.74507	0.36450	D	AEFDBCI	0.201916	0.32854	N	0.0792102774711377	0.45493	2.804952	0.106712000605896	0.44889	2.762179	0.944359364689849	0.27611	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.66	5.66	0.87293	2.445000	0.44558	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.096000	0.18090	0.0:1.0:0.0:0.0	16.651	0.85061	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.93	.	chr19	15439663	.	C	T	35.93	.	AC=2;AF=0.083;AN=24;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=0.2876;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.97;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	11	1	0	7
chr19	15454783	15454783	C	T	exonic	RASAL3	.	nonsynonymous SNV	RASAL3:NM_022904:exon12:c.G1832A:p.R611Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.198454466812	.	.	0.0007	0	0.0017	0	0	0.0003	0	0.0020	0.0003493	54	154602	rs375317705	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	3.004e-05	0.0008	0	0	1.91e-05	0.0002	0.0001	0.0003	0.0016	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	7.216e-05	0	0.0009	0	0	0	0	0.0001	0.0005	0.0015	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.005984	0.32354	U	0.000000	0.999996	0.58761	D	3.765	0.95136	H	-2.49	0.89145	D	-3.83	0.72120	D	0.93	0.93487	0.963	0.96596	D	0.863	0.95451	D	10	0.6493167	0.69510	D	0.198454	0.86596	D	0.892	0.96910	0.82	0.93328	0.912214098907	0.91133	0.8135559474302327	0.81311	0.892393200294	0.70274	0.857813417912	0.90787	D	0.795899	0.94745	D	0.185084	0.72510	D	0.457705	0.93758	D	0.623106896877289	0.37333	D	0.943106	0.78551	D	0.8729469	0.89097	0.78805965	0.87525	0.8729469	0.89098	0.78805965	0.87526	-12.111	0.85388	D	.	.	0.824	0.78447	P	.	.	7.400418	0.96478	36	0.99958454264437446	0.99990	0.96538	0.69640	D	AEFDBCI	0.937257	0.93478	D	0.914162295203197	0.92435	11.42216	0.820287212722575	0.91168	10.75152	0.999999999999557	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.61531	0.40942	0	0.699908	0.69081	0	.	.	4.79	4.79	0.60909	7.897000	0.85944	.	.	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.707	0.77348	651	0.62880	Ras GTPase-activating domain|Ras GTPase-activating protein, conserved site|Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	976.33	40	chr19	15454783	.	C	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=730;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.586;SOR=0.934	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1376	18	0	1	0
chr19	15469409	15469409	G	A	exonic	PGLYRP2	.	stopgain	PGLYRP2:NM_001363546:exon4:c.C1864T:p.Q622X	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.247e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs375779148	0.0005	0.0003	0.0005	0.0005	0.0015	0.0005	0.0005	0.0012	0.0010	0	2.885e-05	4.955e-05	0.0015	0.0044	0.0002	0.0002	0.0005	0.0002	0.0007	0.0007	0.0003	0.0011	0.0015	0.0006	0.0005	0.0008	0.0006	0	0	0	0.0006	0.0015	0.0063	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.00162	U	21.833900	0.999673	0.20721	N	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.698043	0.00037	T	-0.821019	0.01432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	-0.258638	0.02805	0.385	0.77402010657547948	0.11861	0.04596	0.10250	N	AEFDGBCI	0.023350	0.01289	N	-1.08789824901385	0.06865	0.3172597	-1.26944172433007	0.04850	0.2297475	0.995763815810771	0.34312	0.437478	0.07067	0	0.541556	0.11502	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	4.44	-2.45	0.06107	-1.121000	0.03381	.	.	-1.278000	0.01271	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.2932:0.2971:0.4096:0.0	4.548	0.11488	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1719.33	33	chr19	15469409	.	G	A	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.282;DP=775;ExcessHet=0;FS=2.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.15;SOR=0.87	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1386	18	0	1	0
chr19	15475582	15475582	T	G	exonic	PGLYRP2	.	nonsynonymous SNV	PGLYRP2:NM_001363546:exon2:c.A1088C:p.Q363P,PGLYRP2:NM_052890:exon2:c.A1088C:p.Q363P	.	422	1096	4	0	0	4	0.00182149	.	.	.	4044389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00755616392266	0.0007	0.000798722	0.0010	0.0006	0.0026	0	0.0003	0.0011	0.0011	0.0005	0.0008797	136	154602	rs150754767	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0.0016	0	0	9.368e-05	0.0007	0.0009	0.0008	0.0007	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0007	0.0007	0.0006	0	0.0008	0	0	0.0002	0.0034	0.0009	0.0005	0.0006	0.017	0.51248	D	0.219	0.25987	T	0.884	0.48618	P	0.245	0.38823	B	0.873048	0.07188	N	1.060720	1	0.08975	N	2.48	0.72069	M	3.55	0.04746	T	-2.58	0.55662	D	0.441	0.47949	-0.9591	0.39349	T	0.015	0.06042	T	10	0.011097997	0.00244	T	0.007556	0.20060	T	0.087	0.25287	.	.	0.324436698001	0.32047	0.8313444470906253	0.83093	0.490247172869	0.47758	0.277894467115	0.07200	T	0.108827	0.42218	T	-0.477844	0.00761	T	-0.47818	0.24641	T	0.0292298667323319	0.01873	T	0.660234	0.26930	T	0.5076315	0.67541	0.375608	0.62701	0.5076315	0.67542	0.375608	0.62700	-5.202	0.38962	T	.	.	0.136	0.47437	B	.;.	.;.	1.325118	0.17300	13.08	0.78519013042429375	0.12335	0.04750	0.10454	N	AEFGBI	0.348227	0.44242	N	-0.623964277953554	0.18226	0.944563	-0.703472448016723	0.16874	0.8946968	8.6006821783987E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	2.22	0.27116	0.092000	0.14905	.	.	-0.146000	0.12295	0.000000	0.06391	0.143000	0.23109	0.372000	0.26156	0.1553:0.1714:0.0:0.6732	3.856	0.08483	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1075.33	33	chr19	15475582	.	T	G	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.936;DP=710;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.194;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	18	0	1	0
chr19	15476293	15476293	G	A	exonic	PGLYRP2	.	nonsynonymous SNV	PGLYRP2:NM_001363546:exon2:c.C377T:p.A126V,PGLYRP2:NM_052890:exon2:c.C377T:p.A126V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0007	0.00459265	0.0015	0.0034	8.64e-05	0.0013	0	1.499e-05	0	0.0080	0.0014165	219	154602	rs147463355	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	0.0030	6.708e-05	3.826e-05	0.0005	0	0.0005	1.169e-05	0.0020	0.0080	0.0011	0.0011	0.0009	0.0012	0.0100	0.0009	0.0009	0.0077	0.0069	0.0022	0	0.0003	0	0.0014	0	0.0068	2.941e-05	0.0014	0.0100	0.267	0.16198	T	0.376	0.16182	T	0.805	0.45210	P	0.083	0.29179	B	0.262376	0.15289	N	0.606658	0.99979	0.20372	N	1.38	0.34346	L	3.58	0.04594	T	0.05	0.06369	N	0.081	0.05670	-0.9682	0.37571	T	0.005	0.01542	T	10	0.009817749	0.00220	T	.	.	.	0.052	0.14661	.	.	0.281780670237	0.27795	0.3891274873621151	0.38827	0.165253988044	0.18640	0.297825783491	0.10077	T	0.066628	0.32993	T	-0.677683	0.00049	T	-0.740671	0.03862	T	0.00720817760817761	0.00083	T	0.709529	0.32820	T	0.022326076	0.00887	0.036124084	0.02998	0.022326076	0.00887	0.036124084	0.02997	-4.401	0.29921	T	.	.	0.100	0.26232	B	.;.;.	.;.;.	0.654883	0.10233	6.970	0.97607427685364301	0.34887	0.08873	0.14736	N	AEFDBI	0.127332	0.24465	N	-0.569853038469496	0.19865	1.043025	-0.618128734324917	0.19028	1.019094	4.07183730508838E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	2.79	0.31792	1.424000	0.34456	.	.	-0.126000	0.13398	0.016000	0.19238	0.000000	0.08366	0.185000	0.21450	0.2253:0.0:0.7747:0.0	6.726	0.22545	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2166.33	33	chr19	15476293	.	G	A	2166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=1312;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.143;SOR=0.803	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	18	0	1	0
chr19	15525356	15525356	G	A	exonic	CYP4F22	.	nonsynonymous SNV	CYP4F22:NM_173483:exon3:c.G20A:p.R7H	Ichthyosis, congenital, autosomal recessive 5, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	506582	Autosomal_recessive_congenital_ichthyosis_5|not_provided|not_specified	Gene:50992,MONDO:MONDO:0011485,MedGen:C1858133,OMIM:604777,Orphanet:313|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00616451452715	0.0002	0.00119808	0.0011	9.696e-05	8.697e-05	0	0.0002	0.0007	0	0.0047	0.0009832	152	154602	rs202066269	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0043	0.0038	8.961e-05	0.0002	0.0055	0	3.773e-05	0.0059	0.0002	0.0011	0.0039	0.0005	0.0005	0.0005	0.0006	0.0029	0.0004	0.0004	0.0018	0.0014	0.0001	0	0.0002	0.0058	0.0002	0	0.0034	0.0004	0.0028	0.0029	0.772	0.03363	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	0.854681	0.08938	N	0.925749	1	0.08975	N	-1.245	0.00777	N	-0.55	0.71068	T	0.91	0.01595	N	0.098	0.07949	-1.0435	0.16265	T	0.111	0.39888	T	10	0.008422613	0.00191	T	0.006165	0.16141	T	0.053	0.14996	.	.	0.0954503805726	0.09146	0.3737645901700208	0.37290	0.272406653142	0.29750	0.242505371571	0.03020	T	0.052593	0.29206	T	-0.56562	0.00235	T	-0.58577	0.14035	T	0.00914397761913591	0.00115	T	0.246475	0.03619	T	0.026918149	0.01812	0.026765816	0.00784	0.021860417	0.00811	0.024871074	0.00515	-4.54	0.31408	T	.	.	0.079	0.08417	B	.;.	.;.	-0.145441	0.03381	0.605	0.18114054731760973	0.00556	0.00261	0.01428	N	AEFDBI	0.020103	0.00760	N	-1.42723532186287	0.02402	0.106015	-1.4320626275323	0.02936	0.1360367	1.08047051158559E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.69	-1.38	0.08554	-0.462000	0.06781	.	.	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.4314:0.1541:0.2655:0.1489	0.989	0.01360	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.004076	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	811.33	34	chr19	15525356	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=668;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.631;SOR=0.95	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr19	15615762	15615762	G	A	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon2:c.G146A:p.R49Q	.	413	1090	19	0	0	19	0.00864029	.	.	.	2811763	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0053	0.00299521	0.0051	0.0013	0.0052	0	0.0020	0.0075	0.0067	0.0015	0.0051099	790	154602	rs146396294	0.0059	0.0059	0.0058	0.0059	0.0156	0.0057	0.0057	0.0130	0.0120	0.0012	0.0055	0.0320	0	0.0019	0.0156	0.0060	0.0074	0.0014	0.0053	0.0053	0.0054	0.0051	0.0071	0.0050	0.0049	0.0063	0.0061	0.0012	0	0.0071	0.0355	0.0002	0.0024	0.0204	0.0069	0.0090	0.0015	.	.	.	0.536	0.09897	T	0.055	0.22733	B	0.016	0.17743	B	0.083553	0.20747	N	0.414645	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	-0.9865	0.33469	T	0.026	0.11264	T	7	0.0040444434	0.00079	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.2536301066541831	0.25277	.	.	0.232589155436	0.02166	T	0.08612	0.37654	T	-0.485463	0.00688	T	-0.459722	0.26629	T	0.0149512533464996	0.00319	T	0.20398	0.02363	T	0.028550949	0.02209	0.05965641	0.11235	0.028550949	0.02209	0.05965641	0.11234	-2.338	0.04767	T	.	.	0.094	0.14568	B	.;.	.;.	0.036254	0.04538	1.231	0.91932185880499129	0.21256	0.01058	0.03933	N	AEFDBI	.	.	.	-1.35196221493389	0.03105	0.1381544	-1.54099337002564	0.02038	0.09318247	0.00241220773684499	0.09408	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107488	0.23243	2.32	-4.64	0.03109	-0.801000	0.04656	.	.	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2944:0.0:0.7056:0.0	9.609	0.38817	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014099	0.015152	0.021739	0.017544	0.050000	0.008621	0.015244	0.000000	0.02632	2133.33	186	chr19	15615762	.	G	A	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=1448;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=2.94;SOR=0.758	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,100,1685	18	0	1	0
chr19	15742072	15742072	T	C	exonic	OR10H3	.	nonsynonymous SNV	OR10H3:NM_013938:exon1:c.T680C:p.I227T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00147771066605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.029	0.54541	D	0.055	0.22733	B	0.069	0.27757	B	0.020123	0.27106	U	0.170431	1	0.08975	N	3.53	0.93071	H	8.39	0.00243	T	-4.4	0.77308	D	0.142	0.14196	-0.9961	0.31001	T	0.001	0.00318	T	10	0.3855527	0.54512	T	0.001478	0.02267	T	0.090	0.26093	0.793	0.91438	0.405839309607	0.40195	0.07647593884922571	0.07583	0.076699842996	0.08613	0.27299785614	0.06535	T	0.009672	0.08788	T	-0.131347	0.31277	T	-0.426447	0.30340	T	0.357836257687421	0.27324	T	0.837416	0.50983	T	0.49829435	0.66995	0.48447543	0.70158	0.49829435	0.66996	0.48447543	0.70158	-7.973	0.60886	D	.	.	0.264	0.49807	B	.;.	.;.	2.764955	0.36273	20.2	0.96602957867436645	0.30412	0.12476	0.17292	N	AEFGBI	0.069116	0.13666	N	-0.484936188236524	0.22575	1.20632	-0.583697828145078	0.19918	1.070817	0.193588535053993	0.18030	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.017000	0.49302	.	.	-0.308000	0.06107	0.089000	0.22556	0.009000	0.19889	0.819000	0.38590	0.0:0.0:0.0:1.0	8.241	0.30818	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3075.33	138	chr19	15742072	.	T	C	3075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.085;DP=2011;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.314;SOR=0.835	GT:AD:DP:GQ:PL	0/0:157,0:157:99:0,120,1800	18	0	1	0
chr19	15886018	15886018	G	C	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon9:c.C1021G:p.L341V	.	411	1084	26	1	0	28	0.0127505	.	.	.	704833	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.699	.	0.0060	0.00419329	0.0062	0.0021	0.0031	0.0001	0.0008	0.0063	0.0066	0.0163	0.0060413	934	154602	rs145174239	0.0077	0.0077	0.0075	0.0080	0.0186	0.0076	0.0076	0.0178	0.0175	0.0010	0.0021	0.0047	7.559e-05	0.0007	0.0069	0.0081	0.0072	0.0186	0.0044	0.0044	0.0047	0.0041	0.0168	0.0041	0.0040	0.0138	0.0128	0.0014	0	0.0015	0.0046	0	0.0008	0.0068	0.0069	0.0047	0.0168	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.989	0.78396	D	0.002566	0.36316	U	0.114432	0.994504	0.81001	D	2.79	0.81396	M	-1.62	0.82347	D	-2.68	0.57275	D	0.698	0.71232	0.366	0.88577	D	0.620	0.86601	D	10	0.018367171	0.00399	T	.	.	.	0.699	0.89145	.	.	0.837326604958	0.83577	0.45305162405527605	0.45223	0.555825171214	0.52270	0.476655632257	0.35597	T	0.232528	0.59911	T	-0.254065	0.13604	T	-0.124097	0.61464	T	0.0169988288199589	0.00449	T	0.979882	0.93225	D	0.68260014	0.77110	0.60884553	0.77252	0.68260014	0.77111	0.60884553	0.77253	-14.267	0.93892	D	.	.	0.207	0.47426	B	.;.	.;.	4.334332	0.66445	25.0	0.99563787630366185	0.71953	0.85960	0.45156	D	AEFGBHCI	0.489770	0.52753	N	0.39751527528306	0.61287	4.327766	0.236712511244455	0.51897	3.368392	0.00349903763124352	0.10145	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.63	2.63	0.30420	2.449000	0.44592	.	.	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:0.0:1.0:0.0	10.964	0.46613	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003171	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	2342.33	36	chr19	15886018	.	G	C	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.192;DP=1363;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.536;SOR=0.608	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr19	15949402	15949402	G	A	exonic	OR10H4	.	nonsynonymous SNV	OR10H4:NM_001004465:exon1:c.G395A:p.R132H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000691225690652	.	0.000998403	0.0002	9.61e-05	8.649e-05	0.0012	0.0002	0.0001	0.0022	6.056e-05	0.0001876	29	154602	rs191127043	0.0004	0.0004	0.0004	0.0004	0.0084	0.0004	0.0003	0.0077	0.0074	8.961e-05	8.945e-05	0.0002	0.0084	5.616e-05	0	0.0002	0.0004	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0043	0.0002	0.0002	0.0029	0.0024	0.0002	0	6.536e-05	0.0003	0.0043	0	0	0.0002	0	0	0.338	0.12796	T	0.18	0.29442	T	0.006	0.13644	B	0.003	0.08700	B	0.092583	0.20266	N	0.353956	0.987481	0.24512	N	1.13	0.28900	L	4.75	0.01589	T	-2.11	0.48020	N	0.026	0.00527	-0.9316	0.43903	T	0.004	0.01261	T	10	0.025756657	0.00760	T	6.91E-4	0.00418	T	0.042	0.11227	.	.	0.149567049428	0.14543	0.1523367806731133	0.15155	0.0414429609065	0.04451	0.232329845428	0.02145	T	0.001515	0.00960	T	-0.666976	0.00057	T	-0.781282	0.02415	T	0.0086411121345403	0.00106	T	0.468753	0.13831	T	0.03390525	0.03701	0.031926014	0.01852	0.03390525	0.03701	0.031926014	0.01852	-2.013	0.03230	T	.	.	0.078	0.06990	B	.;.	.;.	0.151001	0.05432	1.905	0.85158142459727892	0.15720	0.02387	0.06776	N	AEFGBI	0.043119	0.06776	N	-1.70420153903556	0.00827	0.03575836	-1.77847013272263	0.00830	0.03709396	1.97823773481889E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.06	0.05053	-2.679000	0.00910	.	.	-2.880000	0.00166	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4285:0.0:0.5715:0.0	7.686	0.27708	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4802.33	409	chr19	15949402	.	G	A	4802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=2661;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.028;SOR=0.829	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	16325527	16325529	CGG	-	exonic	KLF2	.	nonframeshift deletion	KLF2:NM_016270:exon2:c.387_389del:p.G133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	.	0	.	.	0	.	0	0	0	3.84e-05	1	26028	rs772362936	0.0003	0.0022	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0015	4.592e-05	0.0004	0.0002	0.0001	0.0008	0	0.0002	0.0003	0.0020	0	1.982e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	34.3	17	chr19	16325526	.	ACGG	A	34.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.45;ReadPosRankSum=0.917;SOR=0.269	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	18	0	1	0
chr19	16392341	16392341	G	A	exonic	EPS15L1	.	nonsynonymous SNV	EPS15L1:NM_001258374:exon19:c.C2066T:p.S689L,EPS15L1:NM_001258375:exon19:c.C2066T:p.S689L,EPS15L1:NM_021235:exon19:c.C2066T:p.S689L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0231569791984	.	.	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs374304767	7.525e-06	7.524e-06	2.722e-06	1.238e-05	4.637e-05	4.04e-06	2.95e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	6.295e-06	0	4.637e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.054	0.51421	T	0.967	0.56408	D	0.226	0.38054	B	0.037017	0.24452	N	0.360958	0.999084	0.46578	D	2.215	0.62545	M	1.74	0.34452	T	-2.49	0.54217	N	0.387	0.44952	-1.0564	0.12672	T	0.067	0.27502	T	10	0.26516762	0.44011	T	0.023157	0.46105	T	0.125	0.34456	0.077	0.00572	0.220282294035	0.21616	0.16482515344444007	0.16402	0.201976119051	0.22616	0.584871470928	0.50772	T	0.257092	0.62808	T	-0.194105	0.21658	T	-0.335067	0.40902	T	0.823434591293335	0.48029	D	0.837416	0.62748	T	0.14474216	0.33209	0.14949372	0.35295	0.14474216	0.33209	0.14949372	0.35294	-9.268	0.70110	D	.	.	0.082	0.12797	B	.;.;.;.	.;.;.;.	4.154538	0.62344	24.4	0.99805175472850727	0.88995	0.99345	0.94800	D	AEFBI	0.725473	0.67444	D	0.149333151687694	0.48782	3.086155	0.163893073642576	0.47881	3.011921	0.999953396631684	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.68	3.68	0.41359	7.128000	0.76828	11.321000	0.92526	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:1.0:0.0	14.843	0.69872	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2209.33	34	chr19	16392341	.	G	A	2209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=786;ExcessHet=0;FS=1.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.678;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	16500802	16500802	G	T	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G10T:p.A4S,C19orf44:NM_032207:exon2:c.G10T:p.A4S	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00402780951815	0.0018	0.000798722	0.0014	0.0008	0.0015	0	0.0002	0.0021	0	0.0002	0.0014489	224	154602	rs143291289	0.0022	0.0022	0.0022	0.0021	0.0030	0.0021	0.0021	0.0025	0.0024	0.0004	0.0021	0.0004	2.542e-05	0.0004	0.0030	0.0025	0.0027	0.0002	0.0016	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0030	0.0027	0.0006	0	0.0037	0.0003	0	9.42e-05	0.0068	0.0021	0.0047	0.0002	0.039	0.42487	D	0.324	0.44501	T	0.248	0.31148	B	0.097	0.30390	B	0.260325	0.03704	N	1.634980	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	0.01	0.06868	N	0.069	0.05287	-1.0582	0.12209	T	0.032	0.13942	T	9	0.008705109	0.00197	T	0.004028	0.09587	T	0.030	0.07022	.	.	0.0482279557977	0.04254	0.0574248694361337	0.05683	0.133755554543	0.15066	.	.	.	0.027966	0.20362	T	-0.604657	0.00137	T	-0.646872	0.09175	T	0.00164603011962167	0.00017	T	0.666933	0.27843	T	0.050901998	0.09268	0.0587841	0.10921	0.050901998	0.09267	0.0587841	0.10920	-2.998	0.10159	T	.	.	0.097	0.16538	B	.;.;.;.	.;.;.;.	0.009283	0.04347	1.110	0.94500164096319239	0.24972	0.01324	0.04572	N	AEFGBI	0.030401	0.03055	N	-0.85371827393849	0.11959	0.5800999	-0.963171451189503	0.10619	0.5359641	0.329392552589544	0.19469	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.645948	0.59608	0	.	.	4.46	-1.86	0.07340	-0.692000	0.05228	-0.873000	0.07095	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.3964:0.1852:0.2329:0.1855	0.470	0.00495	794	0.45591	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1290.33	35	chr19	16500802	.	G	T	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=-0.691;SOR=0.718	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr19	16501519	16501519	G	A	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G727A:p.V243I,C19orf44:NM_032207:exon2:c.G727A:p.V243I	.	479	1041	1	1	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00466426299751	.	0.000199681	3.368e-05	0.0001	8.709e-05	0	0	3.056e-05	0	0	3.23e-05	5	154602	rs188780108	2.302e-05	2.189e-05	1.503e-05	3.136e-05	0.0004	1.633e-05	1.417e-05	6.881e-05	2.877e-05	7.318e-05	8.288e-05	0	0	2.093e-05	0.0004	1.649e-05	9.509e-05	1.681e-05	3.293e-05	3.284e-05	6.442e-05	0	4.414e-05	1.263e-05	7.99e-06	1.172e-05	6.25e-06	2.415e-05	0	0	0	0	9.568e-05	0	4.414e-05	0	0	0.044	0.41096	D	0.305	0.20551	T	0.994	0.66517	D	0.669	0.53077	P	0.247704	0.15576	N	0.475580	1	0.19486	N	1.435	0.35949	L	.	.	.	-0.48	0.15379	N	0.023	0.03726	-1.0101	0.26886	T	0.139	0.45734	T	9	0.09088123	0.15871	T	0.004664	0.11566	T	0.146	0.38789	.	.	0.0806252709748	0.07271	0.06933652505517159	0.06871	0.310238895181	0.33346	.	.	.	0.039365	0.25164	T	-0.416397	0.01804	T	-0.63893	0.09746	T	0.0346549339592457	0.02749	T	0.423358	0.11306	T	0.035480227	0.04184	0.036461588	0.03098	0.035480227	0.04184	0.036461588	0.03098	-3.492	0.16320	T	.	.	0.077	0.06710	B	.;.	.;.	0.642386	0.10110	6.855	0.98234808365413351	0.39423	0.12995	0.17602	N	AEFBI	0.032473	0.03677	N	-0.161995612911454	0.34726	1.985652	-0.334454549210748	0.26994	1.494833	0.0363739065528694	0.14242	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.34	3.19	0.35720	0.588000	0.23626	0.458000	0.18589	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7016:0.2984	8.968	0.35051	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1478.83	35	chr19	16501519	.	G	A	1478.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.38;DP=835;ExcessHet=0.119;FS=4.044;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.679;SOR=1.022	GT:AD:DP:GQ:PL	0/1:51,25:76:99:655,0,1325	17	0	2	0
chr19	16661231	16661231	C	T	exonic	TMEM38A	.	nonsynonymous SNV	TMEM38A:NM_024074:exon1:c.C14T:p.S5L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.465415115191	0.0008	0.000599042	0.0015	0	0	0	0.0004	0.0026	0.0041	0.0005	0.0008732	135	154602	rs141700561	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0007	0.0006	0	7.495e-05	0.0020	0	0.0011	0.0005	0.0007	0.0008	0.0005	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	0	0	6.549e-05	0.0029	0	0.0005	0	0.0007	0	0.0008	0.056	0.38185	T	0.185	0.28958	T	0.897	0.49385	P	0.084	0.29270	B	0.156532	0.17797	N	0.503008	0.803871	0.34547	D	1.15	0.29295	L	.	.	.	-1.41	0.34795	N	0.316	0.35620	-0.9267	0.44616	T	0.067	0.27468	T	9	0.01045239	0.00232	T	0.465415	0.94587	D	0.047	0.12962	.	.	0.0611884634855	0.05136	0.5040289640108612	0.50324	0.298450713578	0.32224	0.902976870537	0.96763	D	0.057881	0.30689	T	-0.404724	0.02156	T	-0.384214	0.35229	T	0.0337519469264825	0.02596	T	0.849315	0.53201	T	0.21773879	0.44264	0.1222116	0.29480	0.21773879	0.44264	0.1222116	0.29479	-4.621	0.32435	T	.	.	0.305	0.53363	B	.	.	3.804619	0.54844	23.5	0.99637069320830396	0.76387	0.35449	0.25304	N	ALL	0.232216	0.35532	N	-0.241383179128928	0.31449	1.763505	-0.243810316775966	0.29984	1.684451	0.99999999995736	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	3.55	3.55	0.39770	0.416000	0.20918	4.637000	0.44139	0.446000	0.21189	0.001000	0.13787	1.000000	0.68203	0.867000	0.41218	0.0:1.0:0.0:0.0	10.653	0.44852	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	339.33	34	chr19	16661231	.	C	T	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=-1.473;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	18	0	1	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.000000	0.024194	0.004425	0.000000	0.045455	0.011628	0.012500	0.02632	2596.33	33	chr19	16736665	.	T	C	2596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049;DP=868;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.205;SOR=0.783	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1471	18	0	1	0
chr19	16808103	16808103	G	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon17:c.G3636C:p.Q1212H,NWD1:NM_001007525:exon18:c.G4254C:p.Q1418H,NWD1:NM_001290355:exon19:c.G3849C:p.Q1283H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0131409081108	.	.	8.256e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs773558577	3.421e-05	3.42e-05	2.45e-05	4.401e-05	0.0005	2.631e-05	2.375e-05	0.0004	0.0004	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23631	T	0.004	0.74150	D	0.799	0.44910	P	0.465	0.46596	P	0.546587	0.11480	N	0.783363	0.999989	0.18198	N	1.87	0.49600	L	-0.19	0.65931	T	-1.51	0.39887	N	0.224	0.28732	-0.9324	0.43785	T	0.194	0.54754	T	10	0.055022597	0.05949	T	0.013141	0.32307	T	0.026	0.05648	0.367	0.37524	0.233785782151	0.22967	0.16708252895573447	0.16628	0.380550716014	0.39422	0.351144492626	0.18091	T	0.006674	0.06097	T	-0.347698	0.04874	T	-0.373058	0.36531	T	0.117200671735127	0.14153	T	0.69663	0.30897	T	0.108037114	0.25545	0.07692922	0.17088	0.108037114	0.25544	0.07692922	0.17087	-5.042	0.37293	T	.	.	0.147	0.32565	B	.;.;.;.	.;.;.;.	1.608169	0.20553	14.80	0.97936530958671553	0.36999	0.05690	0.11609	N	AEFDBIJ	0.049568	0.08577	N	-0.268190199925203	0.30384	1.693681	-0.332047342939393	0.27069	1.499555	7.55428509416629E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.574621	0.27300	0	0.613276	0.41899	0	.	.	4.76	2.59	0.30091	0.189000	0.16845	0.706000	0.20886	0.676000	0.76740	0.038000	0.20882	0.007000	0.19602	0.414000	0.27095	0.1899:0.1646:0.6455:0.0	5.414	0.15662	929	0.16858	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2222.33	37	chr19	16808103	.	G	C	2222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.281;DP=836;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.003;SOR=0.909	GT:AD:DP:GQ:PL	0/1:103,94:197:99:2236,0,2741	18	0	1	0
chr19	16925214	16925214	T	C	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon26:c.A3529G:p.T1177A	Anterior segement dysgenesis 8, Autosomal recessive	413	1102	7	0	0	7	0.00316599	.	.	.	741685	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00758786	0.0046	0.0001	0	0.0003	0	8.993e-05	0.0056	0.0326	0.0039909	617	154602	rs200617730	0.0019	0.0019	0.0011	0.0027	0.0300	0.0019	0.0018	0.0291	0.0287	8.961e-05	0	0	0.0002	0	0.0012	6.385e-05	0.0024	0.0300	0.0010	0.0010	0.0007	0.0013	0.0292	0.0008	0.0008	0.0253	0.0238	2.405e-05	0	0	0	0.0004	0	0	2.94e-05	0	0.0292	.	.	.	0.221	0.25827	T	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	0.994906	0.23416	N	.	.	.	1.22	0.37052	T	.	.	.	0.16	0.16725	-1.0717	0.09043	T	0.100	0.37213	T	9	0.0048716962	0.00104	T	.	.	.	.	.	.	.	0.389750110748	0.38591	.	.	0.138844385288	0.15659	0.580688238144	0.50183	T	.	.	.	-0.536054	0.00354	T	-0.519783	0.20315	T	0.0276823399719816	0.01642	T	0.622538	0.23960	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965650	0.13426	9.931	0.97273983290207411	0.33149	0.65643	0.32806	D	AEFBI	0.147588	0.27129	N	-0.177634607259707	0.34066	1.94008	-0.203300304288481	0.31417	1.777824	1.27352735867776E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	2.66	1.62	0.22817	2.375000	0.43938	0.384000	0.17813	-0.200000	0.08971	0.998000	0.41325	0.300000	0.24215	0.270000	0.23768	0.0:0.2383:0.0:0.7617	5.603	0.16646	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.000000	0.050000	0.000000	0.006098	0.011364	0.02632	569.33	37	chr19	16925214	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=677;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.67;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	18	0	1	0
chr19	17011658	17011658	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon4:c.G367A:p.V123M	Anterior segement dysgenesis 8, Autosomal recessive	408	1113	1	0	0	1	0.000449035	.	.	.	3235867	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.0116762888172	0.0002	0.000199681	0.0003	0.0001	0	0	0	0.0004	0	0.0003	0.000207	32	154602	rs374384655	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0005	0.0003	5.974e-05	6.708e-05	0	0	0	0.0010	0.0002	0.0002	0.0001	0.0001	0.0001	7.71e-05	0.0002	0.0002	8.164e-05	6.72e-05	0.0001	8.876e-05	9.626e-05	0	6.54e-05	0	0	0	0	0.0002	0.0005	0	0.015	0.52492	D	0.002	0.79402	D	.	.	.	.	.	.	0.022886	0.26547	U	0.250831	0.894779	0.29295	N	.	.	.	1.09	0.58176	T	-0.98	0.25986	N	0.546	0.57263	-0.7520	0.57830	T	0.225	0.58894	T	10	0.38604808	0.54547	T	0.011676	0.29546	T	0.271	0.58633	.	.	0.685992540187	0.68330	.	.	0.620895996431	0.56390	0.698850989342	0.66977	T	0.104	0.41411	T	-0.30933	0.07806	T	-0.376131	0.36174	T	0.0485192945169725	0.05237	T	0.825317	0.48765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.094988	0.41689	21.4	0.99801366278061943	0.88639	0.34092	0.24985	N	AEFDBI	0.095810	0.19352	N	0.21424088001911	0.51890	3.366784	0.0946139030385477	0.44278	2.712615	4.21293457682864E-5	0.03989	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.06	1.89	0.24700	1.851000	0.38978	0.451000	0.18522	0.537000	0.25018	0.956000	0.33378	0.287000	0.24143	0.434000	0.27538	0.0:0.6235:0.0:0.3765	4.514	0.11334	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1943.33	33	chr19	17011658	.	C	T	1943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=1.32;SOR=0.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	18	0	1	0
chr19	17022059	17022059	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon2:c.C215T:p.P72L	Anterior segement dysgenesis 8, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	2109366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	8.2e-05	0.00339457	0.0030	0	0.0003	0.0150	0.0195	0.0012	0.0071	0.0009	0.0017658	273	154602	rs142714688	0.0010	0.0010	0.0010	0.0009	0.0109	0.0009	0.0009	0.0100	0.0097	6.007e-05	6.82e-05	3.87e-05	0.0109	0.0110	0	0.0002	0.0012	0.0009	0.0014	0.0014	0.0009	0.0020	0.0106	0.0013	0.0012	0.0084	0.0076	2.405e-05	0	0.0002	0.0003	0.0106	0.0125	0	0.0002	0.0014	0.0012	0.052	0.39097	T	0.044	0.49663	D	.	.	.	.	.	.	0.042827	0.23801	U	0.312151	0.701201	0.33423	D	.	.	.	1.48	0.50976	T	-1.76	0.41618	N	0.151	0.15888	-0.9996	0.30030	T	0.053	0.22307	T	10	0.007766813	0.00176	T	.	.	.	0.037	0.09474	.	.	0.333651784274	0.32972	.	.	0.147516946697	0.16644	0.394249379635	0.24267	T	0.028475	0.20618	T	-0.579013	0.00195	T	-0.596527	0.13106	T	0.0236743177015623	0.01104	T	0.729427	0.34485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.648419	0.21035	15.02	0.21759784567221094	0.00844	0.57618	0.30424	D	AEFDGBCI	0.173904	0.30101	N	-0.664732660749739	0.17033	0.8730259	-0.74310330851006	0.15892	0.8380732	0.999536543361257	0.40238	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	3.06	0.832	0.18002	2.060000	0.41020	0.045000	0.13922	-0.192000	0.09343	0.988000	0.36536	0.002000	0.18203	0.002000	0.04165	0.2196:0.0:0.7804:0.0	7.587	0.27163	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002543	0.000000	0.000000	0.000000	0.000000	0.008621	0.006250	0.007634	0.02632	550.33	34	chr19	17022059	.	G	A	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.733;SOR=0.58	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1064	18	0	1	0
chr19	17058578	17058578	G	A	exonic	HAUS8	.	nonsynonymous SNV	HAUS8:NM_001011699:exon8:c.C613T:p.R205W,HAUS8:NM_033417:exon8:c.C616T:p.R206W	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.105471619358	7.7e-05	.	0.0004	0	8.654e-05	0	0	9.053e-05	0.0033	0.0026	0.0003493	54	154602	rs376846602	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	6.073e-05	2.326e-05	0	0.0003	3.748e-05	0.0007	5.406e-05	0.0002	0.0025	0.0001	0.0001	8.992e-05	0.0002	0.0012	8.16e-05	6.718e-05	0.0005	0.0004	2.405e-05	0	6.534e-05	0	0.0004	0	0	0.0001	0	0.0012	0.004	0.65419	D	0.006	0.72224	D	0.999	0.77913	D	0.861	0.61279	P	0.602356	0.05654	N	1.252920	1	0.08975	N	2.175	0.60977	M	-1.06	0.76819	T	-4.3	0.76496	D	0.325	0.36674	-0.6459	0.62891	T	0.456	0.78790	T	10	0.020490438	0.00473	T	0.105472	0.78060	D	0.207	0.49555	.	.	0.631108546269	0.62809	0.33685896144421573	0.33598	0.533401914816	0.50776	0.257281839848	0.04573	T	0.176554	0.52654	T	-0.329331	0.06162	T	-0.251075	0.49712	T	0.119979424492533	0.14429	T	0.80172	0.44963	T	0.116983294	0.27585	0.10972049	0.26447	0.116983294	0.27584	0.10972049	0.26446	-6.693	0.51758	T	.	.	0.144	0.31633	B	.;.;.	.;.;.	3.380284	0.46749	22.3	0.99680808474055937	0.79241	0.14886	0.18636	N	AEFDBI	0.081062	0.16399	N	-0.31722116117719	0.28494	1.572091	-0.544681170248329	0.20947	1.130906	0.387186028944126	0.20013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.34	0.666	0.17071	0.751000	0.26013	1.846000	0.29223	0.676000	0.76740	0.002000	0.15269	0.011000	0.20116	0.002000	0.04165	0.0995:0.0:0.5266:0.3739	5.503	0.16131	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.010204	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	1310.33	34	chr19	17058578	.	G	A	1310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.099;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr19	17195442	17195442	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon22:c.C4015T:p.R1339W,MYO9B:NM_004145:exon22:c.C4015T:p.R1339W	.	.	.	.	.	.	.	.	.	.	.	2763483	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.371945148577	.	.	7.878e-05	0	0	0	0	7.14e-05	0	0.0002	5.17e-05	8	154602	rs748214669	4.476e-05	4.72e-05	3.015e-05	5.952e-05	0.0003	3.599e-05	3.279e-05	0.0002	0.0002	2.995e-05	6.789e-05	0	0	0	0	2.431e-05	9.981e-05	0.0003	5.257e-05	5.253e-05	3.854e-05	6.725e-05	0.0004	2.557e-05	1.83e-05	7.287e-05	3.028e-05	0	0	0	0	0	0	0	8.819e-05	0	0.0004	0.001	0.78490	D	0.038	0.53788	D	.	.	.	.	.	.	0.029887	0.25388	N	0.259655	1	0.08975	N	1.43	0.35840	L	-2.0	0.85393	D	-3.26	0.65397	D	0.28	0.40465	-0.3387	0.73881	T	0.566	0.84267	D	10	0.22970775	0.39905	T	0.371945	0.92768	D	0.290	0.60924	.	.	0.686668411934	0.68398	0.574879035921826	0.57416	0.349125871371	0.36770	0.379706561565	0.22215	T	0.092729	0.39064	T	-0.177724	0.24075	T	-0.191343	0.55464	T	0.126027680317618	0.15011	T	0.875412	0.58680	D	.	.	.	.	.	.	.	.	-6.236	0.48213	T	.	.	0.093	0.25232	B	.;.;.;.	.;.;.;.	2.842223	0.37502	20.5	0.99870290606904966	0.94815	0.14480	0.18425	N	AEFDBHCI	0.122327	0.23741	N	-0.264175272211878	0.30541	1.703936	-0.484753380007368	0.22572	1.226712	4.40199521908383E-4	0.06970	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	0.282	0.14943	-0.038000	0.12096	0.768000	0.21372	0.599000	0.40250	0.001000	0.13787	0.107000	0.22748	0.019000	0.11356	0.4064:0.3516:0.1443:0.0978	2.473	0.04290	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1170.33	39	chr19	17195442	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.248;SOR=0.776	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr19	17198212	17198212	G	A	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon24:c.G4142A:p.R1381Q,MYO9B:NM_004145:exon24:c.G4142A:p.R1381Q	.	.	.	.	.	.	.	.	.	.	.	2356803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0424874231924	.	.	0.0003	0.0001	0	0.0001	0	0.0004	0.0011	0	0.0002199	34	154602	rs749597376	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0.0003	4.473e-05	0.0066	5.038e-05	0	0.0007	5.756e-05	0.0003	2.319e-05	0.0001	0.0001	0.0002	9.417e-05	0.0002	9.151e-05	7.706e-05	.	.	2.412e-05	0	6.551e-05	0.0049	0.0002	0	0	1.47e-05	0	0	0.356	0.12070	T	0.546	0.09655	T	.	.	.	.	.	.	0.629831	0.05805	N	1.308480	1	0.08975	N	0.69	0.16971	N	-1.8	0.83893	D	-0.68	0.19509	N	0.136	0.13341	-0.8958	0.48408	T	0.236	0.60343	T	10	0.0063654184	0.00144	T	0.042487	0.60489	D	0.119	0.33137	.	.	0.61150466692	0.60837	0.3673305287611773	0.36647	0.390898975004	0.40290	0.296570122242	0.09891	T	0.019421	0.15476	T	-0.354979	0.04422	T	-0.521977	0.20094	T	0.0127352614054067	0.00215	T	0.90061	0.65471	D	.	.	.	.	.	.	.	.	-4.126	0.25672	T	.	.	0.070	0.05188	B	.;.;.;.	.;.;.;.	0.972717	0.13500	10.02	0.89705627204132876	0.19028	0.01371	0.04680	N	AEFGBI	0.043061	0.06759	N	-1.32084790381919	0.03437	0.1535359	-1.37289437604084	0.03543	0.1655007	6.37705808237865E-4	0.07505	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.74	-2.73	0.05599	0.053000	0.14067	0.164000	0.15440	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2071:0.3041:0.157:0.3319	0.394	0.00387	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	873.33	33	chr19	17198212	.	G	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.271;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.335;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1214	18	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L,MYO9B:NM_004145:exon39:c.C6053T:p.S2018L	.	367	1108	46	1	0	48	0.0212014	.	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.005102	0.019022	0.032164	0.050000	0.034483	0.024390	0.030303	0.02632	882.33	39	chr19	17211769	.	C	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=725;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.513;SOR=0.956	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	18	0	1	0
chr19	17212276	17212276	G	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_004145:exon40:c.G6440T:p.C2147F	.	427	1093	2	0	0	2	0.000914077	.	.	.	756808	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.110605621021	0.0007	.	0.0009	0	0.0016	0	0	0.0014	0	0.0002	0.0002846	44	154602	rs201009683	0.0003	0.0004	0.0004	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0006	0.0016	0	0	0.0018	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	4.811e-05	0	0.0021	0.0020	0	0	0.0034	0.0004	0.0009	0.0002	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	0.202366	0.16567	N	0.511841	0.999884	0.50402	D	.	.	.	-2.05	0.85799	D	.	.	.	0.398	0.43899	-0.9210	0.45417	T	0.110	0.39699	T	9	0.031621575	0.01299	T	0.110606	0.78806	D	.	.	.	.	0.267718591433	0.26370	.	.	.	.	0.518901228905	0.41472	T	0.024605	0.18561	T	-0.218814	0.18155	T	-0.209356	0.53757	T	0.0492037875694996	0.05359	T	0.754824	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11797	B	.	.	3.432573	0.47710	22.5	0.89194487684164336	0.18590	0.87509	0.47071	D	AEFBI	0.371469	0.45747	N	0.181932966608269	0.50332	3.224187	0.242113777422032	0.52201	3.39662	0.00194315580774608	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	3.76	0.42368	2.017000	0.40600	5.263000	0.48128	0.614000	0.49286	0.997000	0.40164	1.000000	0.68203	0.688000	0.33778	0.0:0.2162:0.7838:0.0	12.357	0.54507	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.005155	0.002717	0.008929	0.050000	0.000000	0.006173	0.000000	0.02632	1044.33	39	chr19	17212276	.	G	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=754;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.988;SOR=0.977	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	18	0	1	0
chr19	17215416	17215416	-	GAGGCTGGAGCT	exonic	USE1	.	nonframeshift insertion	USE1:NM_018467:exon1:c.11_12insGAGGCTGGAGCT:p.L8_N9insRLEL	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.011e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs759192337	2.773e-05	2.805e-05	3.092e-05	2.447e-05	3.596e-05	2.076e-05	1.823e-05	2.692e-05	2.363e-05	0	0	0	0	0	0	3.596e-05	0	0	3.945e-05	3.941e-05	6.427e-05	1.346e-05	8.823e-05	1.716e-05	1.13e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.823e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1771.77	40	chr19	17215416	.	C	CGAGGCTGGAGCT	1771.77	.	AC=2;AF=0.053;AN=38;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=0.793	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1279	18	1	0	0
chr19	17286647	17286647	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGT:p.L591Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0022	0.0034	0.0021	0.0024	0.0649	0.0022	0.0021	0.0624	0.0614	0.0030	0.0042	4.463e-05	0.0649	0.0036	0.0008	0.0003	0.0025	0.0046	0.0082	0.0095	0.0076	0.0088	0.0986	0.0078	0.0076	0.0911	0.0881	0.0090	0	0.0091	0.0003	0.0986	0.0059	0	0.0019	0.0061	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/0:13,0:24:99:378,469,1269	18	0	1	0
chr19	17286647	17286647	-	GTGT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGTGT:p.L591Vfs*35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0005	0.0008	0.0005	0.0005	0.0113	0.0004	0.0004	0.0103	0.0099	0.0003	0.0007	0	0.0113	0.0007	0.0008	0.0001	0.0009	0.0008	0.0018	0.0020	0.0018	0.0018	0.0272	0.0016	0.0015	0.0233	0.0218	0.0007	0	0.0011	0	0.0272	0.0012	0	0.0008	0.0015	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGTGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/0:13,0:24:99:378,469,1269	18	0	1	0
chr19	17286647	17286647	-	GTGTGT	exonic	ANKLE1	.	nonframeshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGTGTGT:p.C590_L591insVC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	5.752e-05	0.0001	5.946e-05	5.55e-05	0.0017	4.687e-05	4.293e-05	0.0013	0.0012	0.0001	3.435e-05	0	0.0017	0	0	9.813e-06	0.0001	7.374e-05	0.0002	0.0003	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	8.074e-05	0	0.0001	0	0.0048	0	0	1.513e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGTGTGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/0:13,0:24:99:378,469,1269	18	0	1	0
chr19	17286648	17286655	GTGTGTGT	-	exonic	ANKLE1	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1727_1734del:p.C588Ffs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1436580121	0.0015	0.0026	0.0016	0.0015	0.0441	0.0015	0.0014	0.0421	0.0412	0.0021	0.0441	0.0005	0.0029	6.04e-05	0.0004	0.0003	0.0019	0.0020	0.0058	0.0061	0.0050	0.0066	0.0508	0.0055	0.0053	0.0477	0.0465	0.0021	0	0.0508	0	0.0002	0	0	0.0001	0.0071	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	GGTGTGTGT	G	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/0:13,0:24:99:378,469,1269	18	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1540.03	55	chr19	17286678	.	GTGTGTGTGTGTGTT	*	1540.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.865;DP=1094;ExcessHet=0;FS=9.216;InbreedingCoeff=0.6365;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=0;QD=13.63;ReadPosRankSum=2.23;SOR=0.314	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	18	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3189.55	43	chr19	17286684	.	G	*	3189.55	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.282;DP=1136;ExcessHet=0.1504;FS=14.022;InbreedingCoeff=0.1335;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=12.46;ReadPosRankSum=1.48;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:90:.:.:0,90,1350:.	16	0	2	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2249.6	43	chr19	17286686	.	GTGTGTT	*	2249.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.022;DP=1133;ExcessHet=5.3738;FS=12.865;InbreedingCoeff=-0.3091;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.74;ReadPosRankSum=0.657;SOR=0.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:90:.:.:0,90,1350:.	17	0	2	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3880.44	40	chr19	17286688	.	GTGTT	*	3880.44	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1140;ExcessHet=2.8292;FS=10.141;InbreedingCoeff=-0.1312;MLEAC=4;MLEAF=0.105;MQ=59.99;MQRankSum=0;QD=7.89;ReadPosRankSum=1.3;SOR=0.297	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:90:.:.:0,90,1350:.	15	0	4	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:90:.:.:0,90,1350:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	0/0:18,0:26:99:493,462,1248	4	6	8	1
chr19	17306321	17306321	C	T	exonic	MRPL34	.	nonsynonymous SNV	MRPL34:NM_023937:exon2:c.C221T:p.A74V,MRPL34:NM_001382342:exon3:c.C221T:p.A74V,MRPL34:NM_001382343:exon3:c.C221T:p.A74V	.	426	1083	12	1	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0167146867553	0.0024	0.000599042	0.0025	0.0010	0.0015	0	0	0.0039	0.0034	0.0007	0.0020116	311	154602	rs201529220	0.0036	0.0036	0.0036	0.0036	0.0044	0.0035	0.0035	0.0042	0.0042	0.0007	0.0014	0.0050	0	0.0002	0.0044	0.0043	0.0029	0.0006	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0028	0.0027	0.0006	0	0.0011	0.0043	0.0004	0.0002	0.0034	0.0031	0.0028	0.0002	0.055	0.38407	T	0.034	0.55341	D	0.684	0.41517	P	0.258	0.39350	B	0.022374	0.26647	N	0.373844	1	0.08975	N	.	.	.	.	.	.	-2.44	0.53420	N	0.129	0.12341	-1.0680	0.09858	T	0.048	0.20474	T	8	0.008139521	0.00185	T	0.016715	0.38109	T	0.033	0.08068	.	.	0.0482279557977	0.04254	0.34964652371029237	0.34878	0.818420535003	0.67045	0.372713327408	0.21221	T	0.269543	0.64175	T	-0.461973	0.00956	T	-0.435965	0.29261	T	0.0297180490978326	0.01947	T	0.941906	0.79945	D	0.2534463	0.48367	0.36903355	0.62182	0.2534463	0.48367	0.36903355	0.62181	-7.606	0.58353	D	.	.	0.247	0.48209	B	.;.;.;.	.;.;.;.	2.362440	0.30306	18.39	0.9945576635069544	0.65530	0.06481	0.12490	N	ALL	0.408312	0.48004	N	-0.524480061016894	0.21289	1.128802	-0.644933127558455	0.18344	0.9795578	0.999999999969946	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.04	1.27	0.20595	0.780000	0.26421	-0.392000	0.09469	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.113000	0.18872	0.1252:0.498:0.3768:0.0	9.894	0.40473	779	0.47767	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.005155	0.004076	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	819.33	34	chr19	17306321	.	C	T	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=705;ExcessHet=0;FS=1.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.112;SOR=0.597	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	18	0	1	0
chr19	17337645	17337645	G	T	exonic	GTPBP3	.	nonsynonymous SNV	GTPBP3:NM_001128855:exon1:c.G34T:p.A12S,GTPBP3:NM_032620:exon1:c.G34T:p.A12S,GTPBP3:NM_133644:exon1:c.G34T:p.A12S	Combined oxidative phosphorylation deficiency 23, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	YES	1462628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0123323878387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174497205	1.693e-06	4.788e-06	0	3.544e-06	0.0004	2.8e-07	1.1e-07	7.304e-05	3.034e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.37750	T	0.377	0.18018	T	0.004	0.23376	B	0.002	0.16460	B	0.075383	0.21226	N	0.472153	1	0.81001	D	0.255	0.09829	N	1.54	0.30401	T	0.08	0.06253	N	0.371	0.46835	-1.0543	0.13225	T	0.033	0.14290	T	10	0.10999003	0.20540	T	0.012332	0.30806	T	0.038	0.09825	0.236	0.16608	0.242825505644	0.23883	0.3361604532631334	0.33529	0.268502066531	0.29362	.	.	.	0.033117	0.22780	T	-0.157015	0.27219	T	-0.463318	0.26239	T	0.167503884858882	0.18409	T	0.716728	0.32905	T	0.07258965	0.16160	0.12030508	0.29033	0.07258965	0.16159	0.12030508	0.29032	-5.611	0.42892	T	.	.	0.113	0.22354	B	.;.;.	.;.;.	2.319473	0.29701	18.21	0.98050374907265725	0.37866	0.57796	0.30471	D	AEFGBHCIJ	0.250960	0.37091	N	-0.403211483101943	0.25357	1.375855	-0.245582269537852	0.29924	1.680486	0.999999999915994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.77	2.61	0.30255	1.269000	0.32677	3.070000	0.36196	0.676000	0.76740	0.710000	0.28722	1.000000	0.68203	0.614000	0.31742	0.1031:0.1952:0.7016:0.0	5.983	0.18650	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1697.81	50	chr19	17337645	.	G	T	1697.81	.	AC=2;AF=0.053;AN=38;DP=662;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.96;SOR=1.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	18	1	0	0
chr19	17455716	17455716	C	A	exonic	NXNL1	.	nonsynonymous SNV	NXNL1:NM_138454:exon2:c.G570T:p.K190N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.204874341752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.231e-07	1.368e-06	1.427e-06	0	3.176e-05	0	0	.	.	3.176e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.103	0.38305	T	0.089	0.25085	B	0.016	0.17743	B	0.693354	0.06159	U	1.186040	1	0.08975	N	0.975	0.24501	L	-1.91	0.84701	D	-0.76	0.21215	N	0.091	0.06990	-0.8517	0.51850	T	0.316	0.68531	T	10	0.07042161	0.10242	T	0.204874	0.86954	D	0.130	0.35528	0.266	0.21261	0.365120060079	0.36123	0.3588163939097545	0.35795	0.445951067236	0.44474	0.804705023766	0.82680	D	0.127462	0.45450	T	-0.161522	0.26526	T	-0.469792	0.25539	T	0.0539163511100353	0.06174	T	0.446455	0.12522	T	0.0744025	0.16693	0.07684188	0.17059	0.0744025	0.16693	0.07684188	0.17059	-4.344	0.28789	T	.	.	0.216	0.44501	B	.	.	1.735825	0.22091	15.48	0.9661567112289825	0.30459	0.05784	0.11718	N	AEFDBI	0.059811	0.11324	N	-1.06099330821235	0.07373	0.342328	-1.06219075685775	0.08454	0.4157798	0.926088485394594	0.26839	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.49	-0.277	0.12260	0.469000	0.21779	-0.594000	0.08306	0.425000	0.20843	0.000000	0.06391	0.000000	0.08366	0.881000	0.42162	0.0:0.5394:0.3519:0.1087	6.422	0.20948	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	588.33	36	chr19	17455716	.	C	A	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=588;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.896;SOR=1.317	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1096	18	0	1	0
chr19	17455721	17455721	-	CACGCGGTACTTGTGGCGGCGCAGG	exonic	NXNL1	.	frameshift insertion	NXNL1:NM_138454:exon2:c.564_565insCCTGCGCCGCCACAAGTACCGCGTG:p.E189Pfs*36	.	.	.	.	.	.	.	.	.	.	.	3209897	NXNL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0072	0	0	0	0	0.0077	0	0.0001153	3	26028	rs771965648	0.0006	0.0005	0.0007	0.0006	0.0235	0.0006	0.0006	0.0219	0.0213	0.0235	0.0022	0	0	0	0.0006	1.14e-05	0.0015	1.524e-05	0.0053	0.0055	0.0052	0.0053	0.0181	0.0049	0.0048	0.0169	0.0164	0.0181	0	0.0026	0	0	0	0	4.858e-05	0.0046	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	863.29	36	chr19	17455721	.	C	CCACGCGGTACTTGTGGCGGCGCAGG	863.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=602;ExcessHet=0;FS=8.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=-1.526;SOR=2.303	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1096	18	0	1	0
chr19	17527335	17527335	A	C	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001098524:exon2:c.A88C:p.S30R,NIBAN3:NM_173544:exon2:c.A88C:p.S30R	.	395	1097	30	0	0	30	0.0134892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	8.3e-05	0.00139776	0.0053	0	0	0	0	0.0004	0	0.0128	0.0008215	127	154602	rs200304763	0.0010	0.0010	0.0007	0.0014	0.0108	0.0010	0.0010	0.0102	0.0100	9.506e-05	0.0005	7.965e-05	2.806e-05	4.114e-05	0.0080	0.0004	0.0011	0.0108	0.0007	0.0007	0.0006	0.0007	0.0075	0.0006	0.0005	0.0056	0.0049	4.826e-05	0	0.0007	0	0	0	0.0102	0.0007	0	0.0075	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.711885	0.10006	N	0.829479	1	0.18612	N	0.805	0.20218	L	1.96	0.22881	T	-0.72	0.20358	N	0.154	0.20395	-1.0199	0.23747	T	0.033	0.14334	T	10	0.0032359958	0.00055	T	.	.	.	0.020	0.03691	0.128	0.03331	0.0551355673512	0.04727	0.10362123673088532	0.10292	0.297826473025	0.32164	0.396594941616	0.24595	T	0.004484	0.03887	T	-0.615447	0.00117	T	-0.647429	0.09135	T	0.0140267319805013	0.00271	T	0.474053	0.14146	T	0.20258251	0.42308	0.14731982	0.34868	0.20258251	0.42308	0.14731982	0.34867	-3.54	0.17211	T	.	.	0.227	0.45859	B	.;.;.	.;.;.	0.277170	0.06543	3.028	0.98585880563833139	0.43310	0.01256	0.04413	N	AEFDGBHCI	0.085487	0.17329	N	-1.27972693873513	0.03920	0.1760011	-1.39533097773698	0.03301	0.1537287	0.999999724864787	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.98	-3.67	0.04187	-0.124000	0.10571	0.068000	0.14222	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3189:0.1624:0.5187:0.0	6.652	0.22157	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006257	0.000000	0.007622	0.006329	0.000000	0.000000	0.010345	0.012397	0.02632	537.33	33	chr19	17527335	.	A	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=704;ExcessHet=0;FS=7.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.094;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	0	1	0
chr19	17656161	17656161	C	A	exonic	UNC13A	.	nonsynonymous SNV	UNC13A:NM_001080421:exon10:c.G1005T:p.E335D	.	308	1211	3	0	0	3	0.00123711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.016788866317	.	.	0.0002	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs764050434	5.428e-05	5.404e-05	4.087e-05	6.807e-05	0.0007	4.446e-05	4.059e-05	0.0003	0.0002	0	0	0	0	0	0.0007	3.799e-05	3.438e-05	0.0004	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.604	0.05973	T	0.396	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.929249	0.07525	U	1.050960	0.99886	0.21853	N	1.39	0.34934	L	-1.55	0.81815	D	-0.65	0.18877	N	0.238	0.29197	-0.9247	0.44901	T	0.235	0.60209	T	10	0.026242882	0.00796	T	0.016789	0.38210	T	0.167	0.42761	0.178	0.08503	0.401767401478	0.39795	0.12926619417880195	0.12851	0.187802654429	0.21102	0.531611025333	0.43262	T	0.065189	0.32625	T	-0.110385	0.34706	T	-0.396337	0.33812	T	0.0393998242644775	0.03583	T	0.748325	0.36895	T	0.025882788	0.01578	0.029242573	0.01241	0.025882788	0.01578	0.029242573	0.01241	-5.297	0.39913	T	.	.	0.088	0.21578	B	.;.;.;.	.;.;.;.	0.867199	0.12399	8.935	0.95417265840870924	0.26892	0.50734	0.28731	D	AEFDGBHCI	0.368547	0.45560	N	-0.912941910067695	0.10539	0.5040685	-0.822584807848805	0.13949	0.7263263	0.992027874509548	0.32692	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.56	-0.834	0.10234	0.370000	0.20166	-1.525000	0.05244	-0.344000	0.05652	0.005000	0.17040	0.000000	0.08366	0.865000	0.41091	0.0:0.4589:0.1694:0.3717	4.566	0.11584	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1316.33	35	chr19	17656161	.	C	A	1316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=832;ExcessHet=0;FS=2.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.82;SOR=0.481	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr19	17727938	17727938	A	G	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon5:c.A2476G:p.T826A,MAP1S:NM_018174:exon5:c.A2554G:p.T852A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00562466648117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423428240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.04340	T	0.869	0.03852	T	0.007	0.14184	B	0.004	0.10090	B	0.249943	0.03640	N	1.638310	1	0.08975	N	0.115	0.08564	N	2.41	0.15492	T	-0.3	0.12661	N	0.077	0.05162	-1.0115	0.26447	T	0.018	0.07329	T	10	0.049282044	0.04496	T	0.005625	0.14530	T	0.006	0.00375	0.253	0.19223	0.138757226776	0.13463	0.12005685619456798	0.11932	0.288792920878	0.31287	0.326857328415	0.14459	T	0.044539	0.26848	T	-0.396636	0.02436	T	-0.807516	0.01722	T	0.0148844715347292	0.00315	T	0.443356	0.12326	T	0.013861992	0.00072	0.018623823	0.00061	0.013861992	0.00072	0.018623823	0.00061	-2.51	0.05983	T	.	.	0.061	0.01092	B	.;.	.;.	0.646833	0.10153	6.896	0.26084419815383331	0.01233	0.14070	0.18206	N	AEFDGBCI	0.149617	0.27374	N	-1.56417805367276	0.01454	0.06342297	-1.53567801563424	0.02076	0.09494394	0.00285125304908809	0.09753	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.67	-0.513	0.11365	-0.012000	0.12637	1.755000	0.28506	-0.875000	0.02511	0.000000	0.06391	0.036000	0.21445	0.003000	0.05239	0.2062:0.3252:0.0:0.4686	3.069	0.05850	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1655.33	37	chr19	17727938	.	A	G	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=855;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.541;SOR=0.565	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr19	17775075	17775075	T	A	exonic	FCHO1	.	nonsynonymous SNV	FCHO1:NM_001384385:exon11:c.T790A:p.S264T,FCHO1:NM_001161359:exon12:c.T790A:p.S264T,FCHO1:NM_001384384:exon12:c.T790A:p.S264T,FCHO1:NM_001384406:exon12:c.T790A:p.S264T,FCHO1:NM_001384407:exon12:c.T790A:p.S264T,FCHO1:NM_001161358:exon13:c.T940A:p.S314T,FCHO1:NM_001384381:exon13:c.T940A:p.S314T,FCHO1:NM_001384390:exon13:c.T865A:p.S289T,FCHO1:NM_001384392:exon13:c.T940A:p.S314T,FCHO1:NM_001384395:exon13:c.T940A:p.S314T,FCHO1:NM_001384397:exon13:c.T940A:p.S314T,FCHO1:NM_001384402:exon13:c.T940A:p.S314T,FCHO1:NM_001384403:exon13:c.T895A:p.S299T,FCHO1:NM_001161357:exon14:c.T940A:p.S314T,FCHO1:NM_001384370:exon14:c.T940A:p.S314T,FCHO1:NM_001384371:exon14:c.T940A:p.S314T,FCHO1:NM_001384372:exon14:c.T940A:p.S314T,FCHO1:NM_001384373:exon14:c.T940A:p.S314T,FCHO1:NM_001384374:exon14:c.T940A:p.S314T,FCHO1:NM_001384375:exon14:c.T940A:p.S314T,FCHO1:NM_001384376:exon14:c.T940A:p.S314T,FCHO1:NM_001384377:exon14:c.T940A:p.S314T,FCHO1:NM_001384378:exon14:c.T940A:p.S314T,FCHO1:NM_001384379:exon14:c.T940A:p.S314T,FCHO1:NM_001384380:exon14:c.T940A:p.S314T,FCHO1:NM_001384386:exon14:c.T790A:p.S264T,FCHO1:NM_001384387:exon14:c.T940A:p.S314T,FCHO1:NM_001384388:exon14:c.T901A:p.S301T,FCHO1:NM_001384389:exon14:c.T901A:p.S301T,FCHO1:NM_001384391:exon14:c.T940A:p.S314T,FCHO1:NM_001384393:exon14:c.T940A:p.S314T,FCHO1:NM_001384394:exon14:c.T940A:p.S314T,FCHO1:NM_001384396:exon14:c.T940A:p.S314T,FCHO1:NM_001384398:exon14:c.T940A:p.S314T,FCHO1:NM_001384399:exon14:c.T940A:p.S314T,FCHO1:NM_001384400:exon14:c.T940A:p.S314T,FCHO1:NM_001384401:exon14:c.T940A:p.S314T,FCHO1:NM_001384404:exon14:c.T940A:p.S314T,FCHO1:NM_001384405:exon14:c.T901A:p.S301T,FCHO1:NM_015122:exon14:c.T940A:p.S314T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0112025619016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	0.143	0.34241	T	0.09	0.25173	B	0.046	0.24676	B	0.038916	0.01855	N	2.513830	0.891562	0.27872	N	1.9	0.50570	L	1.38	0.37746	T	-1.69	0.40274	N	0.183	0.19861	-1.0180	0.24366	T	0.087	0.33662	T	10	0.093999416	0.16680	T	0.011203	0.28580	T	0.041	0.10877	0.237	0.16760	0.432587166891	0.42875	0.13864922622072165	0.13787	0.546971031676	0.51673	0.464884459972	0.33979	T	0.026112	0.28145	T	-0.201036	0.20656	T	-0.526551	0.19633	T	0.119460596809071	0.14377	T	0.637336	0.25103	T	0.12257508	0.28800	0.07321641	0.15885	0.12257508	0.28800	0.07321641	0.15884	-3.939	0.22888	T	.	.	0.067	0.03698	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.109880	0.14948	11.46	0.93816487007300653	0.23794	0.57675	0.30439	D	AEFBI	0.090343	0.18306	N	-0.512215988322792	0.21683	1.152596	-0.442817471316919	0.23752	1.297008	0.987723616491871	0.31329	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.8	0.42887	0.625000	0.24171	0.787000	0.21533	0.519000	0.23678	0.115000	0.23085	0.002000	0.18203	0.352000	0.25704	0.0:0.1058:0.0:0.8942	7.003	0.23996	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	893.33	34	chr19	17775075	.	T	A	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.899;SOR=0.984	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1248	18	0	1	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1437	82	2	0	86	0.0290541	.	.	.	138312	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified|JAK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017120	0.005051	0.017663	0.011696	0.050000	0.017241	0.027439	0.018939	0.02632	2392.33	33	chr19	17834887	.	C	T	2392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=827;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.121;SOR=0.767	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1234	18	0	1	0
chr19	17861330	17861330	C	T	exonic	RPL18A	.	nonsynonymous SNV	RPL18A:NM_000980:exon2:c.C56T:p.T19I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0215648655434	.	0.000798722	0.0003	0	0	0	0	0	0	0.0022	0.0002587	40	154602	rs532774958	0.0002	0.0002	7.898e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	2.699e-06	0.0001	0.0025	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.01	0.56456	D	0.02	0.58613	D	0.016	0.17332	B	0.068	0.27651	B	0.001151	0.40056	U	0.215843	0.999998	0.58761	D	2.385	0.68708	M	.	.	.	-4.22	0.75854	D	0.447	0.49237	-0.3622	0.73198	T	0.331	0.69893	T	9	0.016435325	0.00346	T	0.021565	0.44356	T	0.235	0.53788	0.522	0.62518	0.257342827899	0.25358	0.6684209908793612	0.66780	0.949352827283	0.72555	0.620297074318	0.55771	T	0.357559	0.72425	T	-0.342665	0.05205	T	-0.271158	0.47703	T	0.165248877729803	0.18251	T	0.816718	0.47282	T	0.42149043	0.62191	0.3668894	0.62009	0.42149043	0.62191	0.3668894	0.62009	-10.823	0.78678	D	.	.	0.888	0.81984	P	.;.	.;.	3.578019	0.50425	22.9	0.99571796671970503	0.72440	0.90971	0.52610	D	AEFGBCI	0.750641	0.69170	D	0.0339720936872923	0.43405	2.634169	0.0770405209869757	0.43396	2.642234	0.999999999999973	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.95	3.95	0.44952	4.790000	0.62146	4.551000	0.43803	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	13.861	0.63057	957	0.09725	Ribosomal protein 50S-L18Ae/60S-L20/60S-L18A;Ribosomal protein 50S-L18Ae/60S-L20/60S-L18A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000566	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	951.33	39	chr19	17861330	.	C	T	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.045;DP=719;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.29;MQRankSum=0.855;QD=12.52;ReadPosRankSum=1.69;SOR=0.443	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	18	0	1	0
chr19	17876045	17876045	G	T	exonic	SLC5A5	.	nonsynonymous SNV	SLC5A5:NM_000453:exon5:c.G637T:p.V213L	Thyroid dyshormonogenesis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0672406972318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.08584	T	0.523	0.10354	T	0.001	0.07471	B	0.008	0.13708	B	0.226520	0.16016	N	0.591063	1	0.08975	N	1.495	0.37439	L	-2.52	0.89363	D	-0.94	0.25118	N	0.052	0.02366	-0.6962	0.60619	T	0.410	0.75845	T	10	0.23870605	0.40996	T	0.067241	0.70110	D	0.178	0.44724	0.451	0.51285	0.248133497653	0.24425	0.6959641614887347	0.69537	0.189338636663	0.21250	0.245516121387	0.03310	T	0.030376	0.21545	T	-0.123795	0.32505	T	-0.4156	0.31581	T	0.0461046174168587	0.04802	T	0.575442	0.20674	T	0.077068485	0.17469	0.054299656	0.09312	0.077068485	0.17469	0.054299656	0.09311	-6.872	0.53092	T	0.28350446055459355	0.37918	0.098	0.16319	B	.	.	0.003303	0.04306	1.085	0.59483625212160363	0.06235	0.33705	0.24892	N	AEFGBI	0.133521	0.25321	N	-1.1225936701195	0.06243	0.2868491	-1.21568938862347	0.05657	0.270164	0.00108530013963787	0.08206	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.0	-5.14	0.02656	0.397000	0.20608	-0.237000	0.10625	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3139:0.3283:0.3578:0.0	5.970	0.18584	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2041.33	38	chr19	17876045	.	G	T	2041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.095;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	18008421	18008421	G	T	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001286826:exon1:c.G111T:p.E37D,ARRDC2:NM_015683:exon1:c.G111T:p.E37D	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0341635560012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.245	0.30045	T	0.008	0.14655	B	0.026	0.20792	B	0.000002	0.62929	D	0.056268	0.999998	0.81001	D	1.245	0.31408	L	2.49	0.14531	T	-2.0	0.46146	N	0.299	0.33796	-1.0658	0.10362	T	0.023	0.09968	T	10	0.26810604	0.44327	T	0.034164	0.55491	D	0.054	0.15330	0.581	0.70733	0.534814951121	0.53131	0.5088136273089309	0.50803	0.428580985127	0.43174	0.891240239143	0.95414	D	0.001602	0.01039	T	-0.203343	0.20322	T	-0.529864	0.19300	T	0.858183026313782	0.50886	D	0.70113	0.31087	T	0.31006604	0.53791	0.30500063	0.56527	0.31006604	0.53791	0.30500063	0.56527	-4.781	0.34369	T	.	.	0.362	0.57330	A	.;.	.;.	2.337153	0.29950	18.28	0.99263283895762267	0.57289	0.89329	0.49728	D	AEFDGBCIJ	0.196836	0.32379	N	-0.266231374906766	0.30461	1.698694	-0.135142978367808	0.33985	1.949903	0.999999981439604	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.503968	0.08637	0	0.404113	0.06833	1	.	.	3.65	3.65	0.40985	0.152000	0.16120	4.691000	0.44365	0.578000	0.29377	0.303000	0.25352	1.000000	0.68203	0.740000	0.35438	0.1047:0.0:0.8953:0.0	8.841	0.34303	964	0.07719	Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	724.33	33	chr19	18008421	.	G	T	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.839;DP=733;ExcessHet=0;FS=6.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.771;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1031	18	0	1	0
chr19	18009039	18009039	G	A	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001025604:exon3:c.G395A:p.R132Q,ARRDC2:NM_001286826:exon3:c.G410A:p.R137Q,ARRDC2:NM_015683:exon3:c.G410A:p.R137Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.111775852488	0.0018	0.000199681	0.0025	0.0007	0.0002	0	0.0014	0.0038	0.0011	0.0021	0.0024579	380	154602	rs1046806	0.0026	0.0026	0.0026	0.0026	0.0031	0.0025	0.0025	0.0030	0.0029	0.0003	0.0004	3.826e-05	2.519e-05	0.0015	0.0007	0.0031	0.0018	0.0021	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0005	0.0044	0.0006	0	0	0.0007	0	0.0028	0.0014	0.0021	0.002	0.72154	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000033	0.55875	D	0.119643	1	0.81001	D	2.825	0.82220	M	3.06	0.16640	T	-3.07	0.64478	D	0.802	0.80375	-0.8203	0.53915	T	0.138	0.45602	T	10	0.017903268	0.00385	T	0.111776	0.78968	D	0.549	0.81310	.	.	0.724876110521	0.72244	0.8066635722234159	0.80621	1.37477819653	0.84638	0.631002783775	0.57287	T	0.026284	0.19484	T	-0.0993908	0.36525	T	0.0867899	0.76030	D	0.035177246695513	0.02837	T	0.962504	0.91141	D	0.7432936	0.80481	0.63995504	0.78968	0.7432936	0.80483	0.63995504	0.78969	-7.872	0.63190	D	.	.	0.195	0.50627	B	.;.;.	.;.;.	5.581933	0.92310	32	0.99951300073080829	0.99944	0.96321	0.68567	D	AEFDBCI	0.905447	0.85698	D	0.838907652487476	0.88466	9.589557	0.767374582653736	0.87449	9.225833	0.999999999999988	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.536845	0.12434	2	.	.	4.44	4.44	0.53164	9.753000	0.98088	9.657000	0.81185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.45	0.83819	964	0.07719	.;Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	997.33	33	chr19	18009039	.	G	A	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=783;ExcessHet=0;FS=4.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.303;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr19	18009086	18009086	G	C	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001025604:exon3:c.G442C:p.E148Q,ARRDC2:NM_001286826:exon3:c.G457C:p.E153Q,ARRDC2:NM_015683:exon3:c.G457C:p.E153Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0462804906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.047	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.051030	0.999997	0.58761	D	1.815	0.47718	L	3.31	0.13673	T	-1.94	0.45587	N	0.369	0.41261	-1.1108	0.03002	T	0.083	0.32556	T	10	0.53398514	0.63343	D	0.04628	0.62381	D	0.315	0.63694	0.561	0.68093	0.623404466153	0.62034	0.5486571822981725	0.54791	1.27124136584	0.82271	0.589657723904	0.51446	T	0.002497	0.01884	T	-0.169436	0.25319	T	-0.48116	0.24324	T	0.965613186359406	0.67322	D	0.882912	0.61387	D	0.74017954	0.80302	0.487538	0.70344	0.74017954	0.80304	0.487538	0.70344	-3.629	0.18277	T	.	.	0.241	0.47503	B	.;.;.	.;.;.	4.598852	0.72823	25.9	0.99757885281269554	0.84772	0.93855	0.59386	D	AEFDBCIJ	0.910672	0.86889	D	0.350147521573648	0.58747	4.048975	0.218140071495131	0.50852	3.27318	0.999999759868119	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.536845	0.12434	2	.	.	4.44	2.16	0.26663	7.799000	0.84507	6.384000	0.55546	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.3011:0.6989:0.0	13.452	0.60626	964	0.07719	.;Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1342.33	33	chr19	18009086	.	G	C	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=767;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.209;SOR=0.559	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr19	18059998	18059998	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon16:c.G1879A:p.E627K,IL12RB1:NM_005535:exon16:c.G1879A:p.E627K,IL12RB1:NM_001290024:exon17:c.G1999A:p.E667K	Immunodeficiency 30, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	349560	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|IL12RB1-related_disorder|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0502997711593	0.0003	0.000798722	0.0016	0.0002	0.0007	0	0.0008	0.0015	0.0034	0.0042	0.0008797	136	154602	rs143367415	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	3.016e-05	0.0001	0.0008	2.53e-05	0.0007	0.0026	0.0005	0.0006	0.0025	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	0	0	6.541e-05	0	0	9.411e-05	0.0034	0.0007	0.0005	0.0031	.	.	.	0.022	0.57587	D	0.886	0.48745	P	0.206	0.37138	B	0.243444	0.15662	N	0.556492	1	0.08975	N	0.83	0.20963	L	-1.69	0.82985	D	.	.	.	0.068	0.04072	-0.7239	0.59269	T	0.336	0.70289	T	10	0.005658984	0.00126	T	0.050	0.64185	D	.	.	.	.	0.837196984627	0.83564	0.11495638176315126	0.11423	0.0998762674502	0.11279	0.269627898932	0.06092	T	0.221584	0.58519	T	-0.422628	0.01646	T	-0.384468	0.35199	T	0.0331579474704862	0.02498	T	0.455954	0.13062	T	0.045579966	0.07485	0.049427263	0.07550	0.042662505	0.06510	0.038296826	0.03668	-4.54	0.31408	T	.	.	0.073	0.04806	B	.;.	.;.	0.730864	0.11002	7.660	0.98659263288509513	0.44303	0.02380	0.06763	N	AEFDGBI	0.048807	0.08368	N	-0.707493968953395	0.15810	0.8001046	-0.829217321851856	0.13788	0.7171667	0.0255451232259495	0.13655	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	1.35	0.21078	-0.075000	0.11392	-1.364000	0.05615	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6617:0.2178:0.1205	4.940	0.13314	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1096.33	34	chr19	18059998	.	C	T	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=777;ExcessHet=0;FS=2.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.853;SOR=0.457	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1332	18	0	1	0
chr19	18063921	18063921	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon13:c.G1573A:p.A525T,IL12RB1:NM_005535:exon13:c.G1573A:p.A525T,IL12RB1:NM_001290024:exon14:c.G1693A:p.A565T	Immunodeficiency 30, Autosomal recessive	0	1482	38	2	0	42	0.0139721	.	.	.	236909	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency	MedGen:C3661900|MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.206	.	0.0040	0.0195687	0.0117	0.0110	0.0015	0.0502	0	0.0027	0.0059	0.0401	0.0101163	1564	154602	rs11575935	0.0051	0.0051	0.0039	0.0062	0.0401	0.0050	0.0049	0.0390	0.0386	0.0094	0.0017	0.0132	0.0398	5.625e-05	0.0174	0.0009	0.0091	0.0401	0.0065	0.0065	0.0058	0.0072	0.0454	0.0062	0.0060	0.0406	0.0388	0.0090	0.0022	0.0023	0.0121	0.0454	0	0.0034	0.0011	0.0147	0.0409	.	.	.	0.016	0.60972	D	0.997	0.70673	D	0.911	0.64720	D	0.607226	0.10901	N	0.782500	1	0.08975	N	1.98	0.53716	M	0.5	0.55608	T	.	.	.	0.064	0.03613	-1.0136	0.25784	T	0.056	0.23677	T	10	0.0067195	0.00152	T	.	.	.	.	.	.	.	.	.	0.28488406152314305	0.28401	0.205483677471	0.22968	0.365413725376	0.20171	T	0.306319	0.67853	T	-0.624686	0.00103	T	-0.631365	0.10312	T	0.00868647556433934	0.00107	T	0.758824	0.38273	T	0.049493443	0.08796	0.060404792	0.11497	0.041172143	0.06014	0.074910164	0.16438	-4.196	0.26694	T	.	.	0.083	0.09385	B	.;.	.;.	1.593305	0.20375	14.72	0.9964637387613674	0.77005	0.02439	0.06873	N	AEFDBHI	0.045193	0.07363	N	-0.274419835101271	0.30139	1.677789	-0.516139272004057	0.21716	1.176021	0.591489704993698	0.21650	0.562547	0.31514	0	0.653731	0.59785	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.21	2.15	0.26590	0.439000	0.21293	0.062000	0.14145	0.527000	0.24520	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.7595:0.2405:0.0	8.432	0.31927	964	0.07719	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012133	0.000000	0.013587	0.002924	0.000000	0.000000	0.003106	0.037879	0.02632	1850.33	34	chr19	18063921	.	C	T	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.019;DP=756;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.439;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chr19	18219278	18219278	G	C	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon7:c.C229G:p.P77A,PDE4C:NM_001098818:exon8:c.C826G:p.P276A,PDE4C:NM_001098819:exon8:c.C604G:p.P202A,PDE4C:NM_000923:exon9:c.C922G:p.P308A,PDE4C:NM_001330172:exon9:c.C922G:p.P308A	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.128041420134	0.0018	0.00139776	0.0020	0.0002	0.0016	0	0.0014	0.0031	0.0011	0.0003	0.0019922	308	154602	rs147234546	0.0024	0.0024	0.0024	0.0023	0.0042	0.0023	0.0023	0.0029	0.0024	0.0003	0.0021	0.0152	0	0.0013	0.0042	0.0024	0.0031	0.0004	0.0020	0.0020	0.0020	0.0019	0.0024	0.0018	0.0017	0.0021	0.0020	0.0007	0	0.0022	0.0176	0	0.0010	0	0.0024	0.0019	0.0004	0.053	0.38863	T	0.039	0.52389	D	0.904	0.49848	P	0.103	0.30945	B	0.000002	0.62929	D	0.059348	0.957005	0.38002	D	2.38	0.68558	M	-0.63	0.72011	T	-5.3	0.84601	D	0.544	0.58031	0.336	0.88125	D	0.569	0.84395	D	10	0.011885911	0.00258	T	0.128041	0.80993	D	0.343	0.66488	.	.	0.912814792197	0.91193	0.5164798107132754	0.51570	1.12752289252	0.78496	0.461168706417	0.33470	T	0.354183	0.72137	T	-0.294429	0.09195	T	-0.198124	0.54824	T	0.0513903454280423	0.05743	T	0.918108	0.70532	D	0.3602891	0.57858	0.3591059	0.61375	0.3602891	0.57858	0.3591059	0.61374	-8.729	0.69267	D	.	.	0.133	0.38587	B	.;.;.;.;.;.	.;.;.;.;.;.	4.272984	0.65030	24.8	0.98128504727508492	0.38498	0.98328	0.81675	D	AEFDBI	0.781233	0.71288	D	0.32924278545193	0.57653	3.933662	0.315147164248647	0.56431	3.806229	0.616392387010096	0.21847	0.615465	0.37627	0	0.626922	0.53725	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	4.370000	0.59288	8.150000	0.76709	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	14.765	0.69250	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1232.33	35	chr19	18219278	.	G	C	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.24;SOR=0.7	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.1053	5960.41	33	chr19	18266981	.	T	C	5960.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.894;DP=1301;ExcessHet=0.0101;FS=0.904;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.36;SOR=0.648	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1220,0,1585	16	1	2	0
chr19	18280985	18280985	-	CGGCGGCGG	exonic	JUND	.	nonframeshift insertion	JUND:NM_001286968:exon1:c.370_371insCCGCCGCCG:p.A123_G124insAAA,JUND:NM_005354:exon1:c.499_500insCCGCCGCCG:p.A166_G167insAAA	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0	0	0	0.0019	0.0001153	3	26028	rs529130306	0.0002	0.0001	0.0002	0.0002	0.0042	0.0002	0.0002	0.0035	0.0033	0	0	0	0	0	0.0025	8.75e-05	0.0002	0.0042	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0024	0.0020	0	0	6.79e-05	0	0	0	0	9.152e-05	0	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	222.3	25	chr19	18280985	.	C	CCGGCGGCGG	222.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=388;ExcessHet=0;FS=6.154;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=-1.18;SOR=2.258	GT:AD:DP:GQ:PL	0/0:28,0:28:72:0,72,705	18	0	1	0
chr19	18444857	18444857	G	C	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon12:c.C1761G:p.N587K	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0434998648516	.	0.000599042	0.0005	0	0.0002	0	0	7.602e-05	0	0.0029	0.0003687	57	154602	rs568878298	0.0002	0.0002	8.864e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	6.713e-05	0.0003	0	0	0.0006	1.889e-05	3.318e-05	0.0029	0.0001	0.0001	7.706e-05	0.0001	0.0021	6.505e-05	5.317e-05	0.0011	0.0009	0	0	0	0.0006	0	0	0	4.41e-05	0.0005	0.0021	0.006	0.61437	D	0.042	0.63109	D	0.995	0.67487	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.02	0.55341	M	1.98	0.21865	T	-3.53	0.68532	D	0.358	0.51226	-1.1041	0.03630	T	0.090	0.34518	T	10	0.014342755	0.00302	T	0.043	0.61013	D	0.109	0.30843	0.418	0.45873	0.584147545485	0.58087	0.19120281255201146	0.19038	0.863994206934	0.69109	0.730985343456	0.71649	T	0.238891	0.60688	T	-0.483543	0.00705	T	-0.471344	0.25371	T	0.158863580638249	0.17787	T	0.871113	0.60854	D	0.6056391	0.72994	0.47900754	0.69822	0.6056391	0.72995	0.47900754	0.69822	-10.886	0.79029	D	.	.	0.257	0.66138	B	.;.	.;.	4.259945	0.64735	24.7	0.99742601368468353	0.83629	0.92790	0.56552	D	AEFBI	0.402440	0.47652	N	0.186306658775754	0.50543	3.243178	0.153296743359521	0.47318	2.963731	0.999580058944541	0.40607	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.87	2.66	0.30672	2.170000	0.42071	5.781000	0.49805	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1477:0.0:0.8523:0.0	10.171	0.42084	958	0.09170	Occludin homology domain;Occludin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1009.33	35	chr19	18444857	.	G	C	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=708;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.342;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	18	0	1	0
chr19	18450641	18450641	G	A	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon8:c.C1301T:p.A434V	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.012072185136	.	.	0.0003	0	0	0	0	0	0	0.0017	0.0001682	26	154602	rs760965737	0.0001	0.0001	7.668e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0	2.527e-05	6.672e-05	0.0021	5.915e-05	5.91e-05	2.569e-05	9.418e-05	0.0019	3.078e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.309	0.14064	T	0.487	0.11656	T	0.335	0.33330	B	0.058	0.26451	B	0.185227	0.16994	N	0.588024	0.922146	0.27267	N	2.175	0.60977	M	1.92	0.23082	T	-0.81	0.22294	N	0.127	0.12198	-1.0711	0.09173	T	0.042	0.17869	T	10	0.01392439	0.00294	T	0.012072	0.30309	T	0.055	0.15663	0.082	0.00727	0.488693090275	0.48504	0.20432487324520182	0.20349	0.0183877885391	0.01795	0.37663847208	0.21779	T	0.106225	0.41739	T	-0.589227	0.00169	T	-0.638174	0.09802	T	0.149830295363012	0.17090	T	0.858514	0.56401	D	0.063443564	0.13360	0.0630797	0.12441	0.063443564	0.13359	0.0630797	0.12441	-4.693	0.33319	T	.	.	0.076	0.10352	B	.;.	.;.	2.717064	0.35533	19.92	0.99276404084130554	0.57730	0.98353	0.81919	D	AEFBI	0.450422	0.50483	N	-0.275565097894712	0.30094	1.674904	-0.207479874429191	0.31266	1.767865	0.999998930679806	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.58	3.55	0.39770	6.568000	0.73878	4.343000	0.43064	0.665000	0.62972	1.000000	0.71638	0.989000	0.31174	0.538000	0.29892	0.0868:0.0:0.9132:0.0	11.422	0.49232	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1776.33	35	chr19	18450641	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.561;DP=773;ExcessHet=0;FS=2.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.091;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr19	18538417	18538417	G	C	exonic	FKBP8	.	nonsynonymous SNV	FKBP8:NM_001308373:exon5:c.C568G:p.P190A,FKBP8:NM_012181:exon5:c.C571G:p.P191A	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0010	0.00379393	0.0030	0.0002	0.0012	0.0002	0	0.0009	0.0051	0.0165	0.0025291	391	154602	rs113307565	0.0026	0.0026	0.0022	0.0029	0.0162	0.0025	0.0025	0.0155	0.0153	0.0002	0.0015	0	5.039e-05	0.0002	0.0010	0.0019	0.0028	0.0162	0.0015	0.0015	0.0013	0.0017	0.0163	0.0013	0.0012	0.0134	0.0124	0.0002	0	0.0012	0	0.0004	9.411e-05	0	0.0016	0.0005	0.0163	0.006	0.61437	D	0.364	0.92824	T	0.138	0.45573	B	0.018	0.31689	B	0.000001	0.62929	D	0.058375	0.999998	0.81001	D	1.72	0.44442	L	0.47	0.63077	T	-7.1	0.93974	D	0.416	0.45898	-0.8393	0.52693	T	0.139	0.45697	T	10	0.009152561	0.00207	T	.	.	.	0.167	0.42761	.	.	0.48586904234	0.48219	0.71845436773559	0.71788	0.849720421971	0.68465	0.59255361557	0.51855	T	0.646408	0.89217	D	-0.346707	0.04937	T	-0.257171	0.49105	T	0.0589336416788403	0.06999	T	0.868613	0.58582	D	0.76689696	0.81862	0.39735705	0.64353	0.76689696	0.81863	0.39735705	0.64353	-7.45	0.57258	T	.	.	0.118	0.44161	B	.;.;.;.;.;.	.;.;.;.;.;.	3.592114	0.50690	23.0	0.96582104981495587	0.30337	0.91828	0.54350	D	AEFDBCI	0.703085	0.65924	D	0.0745448519365888	0.45277	2.78698	0.138565094324628	0.46540	2.898283	0.624409368484252	0.21913	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	4.303000	0.58893	9.781000	0.81598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.345	0.74043	917	0.20147	.;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;.;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1356.33	35	chr19	18538417	.	G	C	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.108;DP=743;ExcessHet=0;FS=3.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.134;SOR=0.391	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr19	18572956	18572956	A	-	exonic	UBA52	.	frameshift deletion	UBA52:NM_001321021:exon1:c.9delA:p.K4Rfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.015e-06	6.84e-07	0	2.142e-06	0.0005	0	0	.	.	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1797.29	35	chr19	18572955	.	CA	C	1797.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.766;DP=758;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=1.66;SOR=0.421	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr19	18667405	18667405	G	C	exonic	KLHL26	.	nonsynonymous SNV	KLHL26:NM_001345985:exon3:c.G271C:p.E91Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000687497904195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.088e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939587	0.26832	N	.	.	.	1.99	0.21666	T	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.083473	0.13890	T	6.87E-4	0.00418	T	.	.	.	.	0.359763055319	0.35592	.	.	.	.	.	.	.	0.013743	0.11830	T	-0.204846	0.20110	T	-0.532024	0.19085	T	.	.	.	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07460	B	.	.	-0.096785	0.03660	0.734	0.75824425077734603	0.11225	0.00145	0.00883	N	AEFBI	0.019080	0.00631	N	.	.	.	.	.	.	0.0726245442509791	0.15607	0.580535	0.33130	0	0.601575	0.49859	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	0.862	-0.602	0.11051	-1.114000	0.03404	-0.106000	0.11884	-0.566000	0.04804	0.002000	0.15269	0.002000	0.18203	0.031000	0.13245	0.4852:0.0:0.5148:0.0	2.631	0.04645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	296.33	34	chr19	18667405	.	G	C	296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=707;ExcessHet=0;FS=4.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.324;SOR=1.863	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	18	0	1	0
chr19	18879021	18879021	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon6:c.G625A:p.A209T,CERS1:NM_021267:exon6:c.G919A:p.A307T,CERS1:NM_198207:exon6:c.G919A:p.A307T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0196595288646	.	.	8.416e-06	0	0	0	0	0	0	6.136e-05	6.5e-06	1	154602	rs758095932	1.369e-06	2.052e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.264	0.22761	T	0.698	0.41805	P	0.115	0.31843	B	.	.	.	.	0.954745	0.81001	D	2.075	0.57047	M	1.53	0.42502	T	-0.85	0.23156	N	0.213	0.23758	-1.0614	0.11410	T	0.073	0.29643	T	9	0.14758077	0.27961	T	0.01966	0.42079	T	0.061	0.17616	0.5	0.59147	0.303123707472	0.29912	.	.	.	.	0.432394444942	0.29536	T	0.372092	0.73634	T	-0.201202	0.20631	T	-0.429935	0.29942	T	0.3365638256073	0.26487	T	0.79532	0.43818	T	0.11170479	0.26396	0.13235529	0.31763	0.11170479	0.26396	0.13235529	0.31762	-5.97	0.46028	T	0.3404751002994684	0.43822	0.092	0.16713	B	.;.;.	.;.;.	2.190257	0.27925	17.63	0.9915434336111898	0.53903	0.79961	0.39730	D	AEFDGBCI	0.356462	0.44783	N	-0.149591845619403	0.35253	2.022478	-0.142709571675024	0.33690	1.929768	0.161030377555925	0.17593	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	3.59	3.59	0.40253	2.823000	0.47781	0.872000	0.22321	0.544000	0.25403	0.853000	0.30494	0.327000	0.24354	0.618000	0.31844	0.0:1.0:0.0:0.0	12.695	0.56367	923	0.18507	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	33	chr19	18879021	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=716;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.62;SOR=1.142	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	18	0	1	0
chr19	18895967	18895967	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_021267:exon1:c.G106A:p.G36S,CERS1:NM_198207:exon1:c.G106A:p.G36S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.123442141438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.416	0.14284	T	0.455	0.36245	P	0.1	0.30674	B	.	.	.	.	1	0.20482	N	1.61	0.41143	L	1.52	0.30669	T	-0.58	0.17417	N	0.086	0.06322	-1.0330	0.19490	T	0.045	0.19316	T	9	0.11881295	0.22471	T	0.123442	0.80461	D	0.023	0.04649	0.396	0.42262	0.0846915920261	0.08053	.	.	.	.	0.854625880718	0.90311	D	0.292158	0.66489	T	-0.191499	0.22037	T	-0.512851	0.21021	T	0.116981841623783	0.14131	T	0.724828	0.33863	T	0.10785652	0.25503	0.07471046	0.16371	0.10785652	0.25502	0.07471046	0.16371	-4.183	0.26896	T	.	.	0.103	0.18950	B	.;.	.;.	2.881102	0.38127	20.7	0.99102147657549311	0.52496	0.11744	0.16834	N	AEFDBHCIJ	0.053038	0.09522	N	-0.716112824500645	0.15568	0.7857501	-0.773157020585659	0.15154	0.7955899	0.999999999533241	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.22	0.996	0.18963	0.582000	0.23535	6.843000	0.56720	0.431000	0.20936	0.025000	0.20085	1.000000	0.68203	0.871000	0.41478	0.0:0.6968:0.0:0.3032	4.910	0.13168	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	213.52	4	chr19	18895967	.	C	T	213.52	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.15;DP=124;ExcessHet=0.1259;FS=1.623;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.756;SOR=1.012	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,280	16	0	2	1
chr19	18919802	18919802	G	A	exonic	DDX49	.	nonsynonymous SNV	DDX49:NM_019070:exon1:c.G61A:p.G21S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0065	0.00179712	0.0068	0.0026	0.0050	0.0001	0.0049	0.0103	0.0057	0.0016	0.0062095	960	154602	rs139869066	0.0080	0.0080	0.0082	0.0078	0.0111	0.0079	0.0078	0.0089	0.0085	0.0015	0.0063	0.0279	2.521e-05	0.0046	0.0111	0.0087	0.0087	0.0016	0.0067	0.0067	0.0070	0.0065	0.0094	0.0064	0.0063	0.0088	0.0086	0.0020	0.0241	0.0084	0.0216	0	0.0042	0	0.0094	0.0090	0.0023	0.025	0.47320	D	0.04	0.60337	D	0.852	0.47012	P	0.414	0.44907	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.84	0.48285	L	1.51	0.30937	T	-4.68	0.79659	D	0.587	0.60749	-1.0819	0.06984	T	0.064	0.26385	T	10	0.008049309	0.00183	T	.	.	.	0.339	0.66106	.	.	0.541875726618	0.53840	0.823232274964152	0.82280	0.924360987109	0.71577	0.65067076683	0.60080	T	0.261293	0.63276	T	-0.269055	0.11863	T	-0.14986	0.59255	T	0.0315823287565548	0.02239	T	0.958804	0.84482	D	0.7750597	0.82352	0.7672163	0.86251	0.7750597	0.82353	0.7672163	0.86252	-6.256	0.48373	T	.	.	0.333	0.55459	B	.;.	.;.	4.300879	0.65672	24.9	0.99807282849827272	0.89174	0.98114	0.79716	D	AEFGBHCIJ	0.939040	0.93908	D	0.53583956024557	0.69225	5.326782	0.612684411253711	0.75862	6.385913	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	8.682000	0.90955	11.688000	0.94314	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.890	0.88784	940	0.13648	RNA helicase, DEAD-box type, Q motif|Helicase superfamily 1/2, ATP-binding domain;RNA helicase, DEAD-box type, Q motif	ATP13A1	Adipose_Visceral_Omentum	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.008152	0.008772	0.000000	0.008621	0.012195	0.003788	0.05263	2491.83	37	chr19	18919802	.	G	A	2491.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.766;DP=809;ExcessHet=0.119;FS=0.539;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.162;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1127	17	0	2	0
chr19	19120154	19120154	G	A	exonic	TMEM161A	.	nonsynonymous SNV	TMEM161A:NM_001256766:exon10:c.C907T:p.P303S,TMEM161A:NM_017814:exon12:c.C1216T:p.P406S	.	376	1143	3	0	0	3	0.00131062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00259585	0.0079	0	0	0	0	0	0	0.0210	0.001533	237	154602	rs373223048	0.0009	0.0009	0.0005	0.0013	0.0152	0.0009	0.0009	0.0145	0.0142	3.081e-05	5.512e-05	0	8.076e-05	0	0.0002	6.465e-06	0.0010	0.0152	0.0005	0.0005	0.0002	0.0008	0.0145	0.0004	0.0003	0.0118	0.0108	0	0	0	0	0	0	0	0	0	0.0145	0.503	0.07670	T	0.153	0.32783	T	0.006	0.13644	B	0.008	0.13708	B	0.000918	0.41128	N	0.245550	0.999983	0.18198	N	0.415	0.12483	N	.	.	.	-0.91	0.24460	N	0.048	0.04307	-0.9960	0.31028	T	0.027	0.11663	T	9	0.0040674806	0.00079	T	.	.	.	0.056	0.15993	0.457	0.52265	0.0846915920261	0.08053	0.12074717061014469	0.12001	0.248754769108	0.27440	0.323311328888	0.13922	T	0.023208	0.17756	T	-0.586867	0.00175	T	-0.603447	0.12523	T	0.0210365229274562	0.00804	T	0.630337	0.24523	T	0.023055134	0.01014	0.03022114	0.01451	0.023055134	0.01014	0.03022114	0.01451	-2.859	0.13189	T	.	.	0.063	0.01668	B	.;.;.	.;.;.	0.416222	0.07869	4.570	0.79470662750798937	0.12756	0.08179	0.14140	N	AEFBI	0.107841	0.21473	N	-1.28392984819888	0.03868	0.1735949	-1.28646125472815	0.04613	0.2179816	0.332067013071097	0.19495	0.706298	0.61202	0	0.724815	0.89359	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	4.67	-3.92	0.03880	0.789000	0.26547	.	.	0.526000	0.24426	0.934000	0.32416	0.000000	0.08366	0.140000	0.19946	0.3273:0.0:0.4279:0.2447	4.388	0.10757	707	0.57054	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001034	0.000000	0.002770	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1581.33	36	chr19	19120154	.	G	A	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=839;ExcessHet=0;FS=3.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.664;SOR=0.425	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	19145815	19145815	G	C	exonic	BORCS8-MEF2B;MEF2B	.	nonsynonymous SNV	MEF2B:NM_001367282:exon8:c.C977G:p.P326R,BORCS8-MEF2B:NM_005919:exon10:c.C977G:p.P326R	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.347957357568	.	0.00119808	0.0041	0	0	0	0	0	0	0.0070	0.0003622	56	154602	rs536681796	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0048	0.0047	0	0	4.083e-05	2.804e-05	0	0	6.543e-06	0.0002	0.0053	0.0002	0.0002	3.855e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.0	0.91255	D	0.214	0.29945	T	.	.	.	.	.	.	0.021704	0.01557	U	7.089470	1	0.08975	N	.	.	.	-1.94	0.84919	D	-1.8	0.42384	N	0.064	0.03613	-0.7680	0.56967	T	0.282	0.65379	T	10	0.0034590662	0.00061	T	0.347957	0.92192	D	0.366	0.68582	0.211	0.12923	0.0551355673512	0.04727	0.051657091987728464	0.05107	0.389484333747	0.40189	.	.	.	.	.	.	-0.260994	0.12784	T	-0.14686	0.59521	T	0.0251716852548896	0.01295	T	0.239776	0.03423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.08754	B	.;.	.;.	-0.550796	0.01712	0.125	0.84015670982477375	0.15048	0.00874	0.03459	N	AEFDBCI	0.019901	0.00734	N	-1.95465780114402	0.00264	0.01133617	-2.05307329452802	0.00235	0.01038166	0.999990936636157	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.459711	0.06710	0	0.691587	0.68394	0	.	.	3.98	-7.96	0.01011	-5.155000	0.00172	.	.	-1.243000	0.01312	0.000000	0.06391	0.000000	0.08366	0.703000	0.34233	0.3332:0.1695:0.3506:0.1468	1.876	0.03023	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	28	chr19	19145815	.	G	C	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=719;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.703;SOR=1.302	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	18	0	1	0
chr19	19492319	19492319	G	A	exonic	GATAD2A	.	nonsynonymous SNV	GATAD2A:NM_001359631:exon3:c.G283A:p.E95K,GATAD2A:NM_001384513:exon3:c.G283A:p.E95K,GATAD2A:NM_001384519:exon3:c.G283A:p.E95K,GATAD2A:NM_001384527:exon3:c.G283A:p.E95K,GATAD2A:NM_001384528:exon3:c.G283A:p.E95K,GATAD2A:NM_001384530:exon3:c.G283A:p.E95K,GATAD2A:NM_001384532:exon3:c.G283A:p.E95K,GATAD2A:NM_001384535:exon3:c.G283A:p.E95K,GATAD2A:NM_001384536:exon3:c.G283A:p.E95K,GATAD2A:NM_001384537:exon3:c.G283A:p.E95K,GATAD2A:NM_001384538:exon3:c.G283A:p.E95K,GATAD2A:NM_001384539:exon3:c.G283A:p.E95K,GATAD2A:NM_017660:exon3:c.G283A:p.E95K,GATAD2A:NM_001300946:exon4:c.G283A:p.E95K,GATAD2A:NM_001384511:exon4:c.G283A:p.E95K,GATAD2A:NM_001384515:exon4:c.G283A:p.E95K,GATAD2A:NM_001384516:exon4:c.G283A:p.E95K,GATAD2A:NM_001384517:exon4:c.G283A:p.E95K,GATAD2A:NM_001384518:exon4:c.G283A:p.E95K,GATAD2A:NM_001384524:exon4:c.G283A:p.E95K,GATAD2A:NM_001384525:exon4:c.G283A:p.E95K,GATAD2A:NM_001384529:exon4:c.G283A:p.E95K,GATAD2A:NM_001384531:exon4:c.G283A:p.E95K,GATAD2A:NM_001384533:exon4:c.G283A:p.E95K,GATAD2A:NM_001384534:exon4:c.G283A:p.E95K,GATAD2A:NM_001384512:exon5:c.G283A:p.E95K,GATAD2A:NM_001384521:exon5:c.G283A:p.E95K,GATAD2A:NM_001384522:exon5:c.G283A:p.E95K,GATAD2A:NM_001384523:exon5:c.G283A:p.E95K,GATAD2A:NM_001384526:exon5:c.G283A:p.E95K,GATAD2A:NM_001384514:exon6:c.G283A:p.E95K	.	419	1092	11	0	0	11	0.00501139	.	.	.	2375046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.042003906137	0.0005	.	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0002	0.0003363	52	154602	rs200305535	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	6.011e-05	0.0002	0	0	1.897e-05	0.0017	0.0006	0.0006	0.0002	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	7.236e-05	0	0.0003	0	0	0	0	0.0008	0	0	0.132	0.91255	T	0.268	0.62352	T	0.999	0.77913	D	0.845	0.60432	P	0.000000	0.84330	D	0.049320	0.999998	0.81001	D	2.36	0.67893	M	1.21	0.57100	T	-0.89	0.62630	N	0.67	0.74007	-0.6105	0.64382	T	0.295	0.66669	T	10	0.14298913	0.27154	T	0.042004	0.60234	D	0.226	0.52472	.	.	0.569458706314	0.56611	0.3335892771895236	0.33271	1.12921193493	0.78546	0.642696261406	0.58947	T	0.208434	0.56836	T	-0.196683	0.21284	T	-0.145654	0.59626	T	0.106863949724166	0.13095	T	0.972303	0.89961	D	0.15650605	0.35315	0.17145163	0.39329	0.15650605	0.35314	0.17145163	0.39328	-10.6	0.77477	D	.	.	0.191	0.55624	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.269667	0.88479	29.6	0.99915281956807378	0.98379	0.99259	0.93576	D	AEFBCI	0.933727	0.92606	D	0.701328625152215	0.79718	7.13752	0.688075674765453	0.81471	7.534878	0.999999999999123	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.980000	0.93030	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.288000	0.24212	0.0:0.0:1.0:0.0	18.201	0.89772	432	0.80690	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.002717	0.002924	0.000000	0.000000	0.009202	0.003788	0.02632	1160.33	37	chr19	19492319	.	G	A	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=737;ExcessHet=0;FS=1.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.238;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1122	18	0	1	0
chr19	19544848	19544848	C	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.C2303G:p.A768G	.	415	1074	33	0	0	33	0.0151307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0013	0.00279553	0.0042	0.0008	0.0029	0.0001	0.0002	0.0028	0.0054	0.0154	0.0032212	498	154602	rs183579609	0.0025	0.0025	0.0020	0.0031	0.0231	0.0025	0.0024	0.0199	0.0187	0.0009	0.0017	0.0043	5.048e-05	0.0004	0.0231	0.0016	0.0031	0.0156	0.0020	0.0020	0.0018	0.0023	0.0161	0.0018	0.0018	0.0133	0.0122	0.0009	0	0.0015	0.0063	0	9.409e-05	0.0102	0.0020	0.0028	0.0161	0.281	0.15458	T	0.365	0.16766	T	0.67	0.41173	P	0.138	0.33406	B	0.004102	0.34102	N	0.294180	0.973073	0.25567	N	0	0.06538	N	2.92	0.09915	T	-1.73	0.41046	N	0.178	0.20660	-1.0066	0.27973	T	0.012	0.04416	T	10	0.006175101	0.00139	T	.	.	.	0.026	0.05648	.	.	0.221734844693	0.21761	0.48943640471560984	0.48863	0.540324238068	0.51227	0.587623178959	0.51159	T	0.059749	0.31200	T	-0.638053	0.00086	T	-0.676322	0.07210	T	0.00500560574170787	0.00054	T	0.763824	0.39073	T	0.12832758	0.30005	0.07520777	0.16535	0.12832758	0.30005	0.07520777	0.16534	-3.199	0.12468	T	.	.	0.110	0.21239	B	.;.	.;.	2.135784	0.27195	17.38	0.98322670361795883	0.40261	0.14627	0.18502	N	AEFBI	0.097155	0.19600	N	-0.415863986299695	0.24913	1.348598	-0.422221171552598	0.24347	1.332705	0.0472752000595685	0.14724	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.89	2.7	0.31007	1.369000	0.33832	.	.	0.524000	0.24156	0.011000	0.18532	0.640000	0.25910	0.920000	0.45560	0.0:0.6119:0.1984:0.1897	4.381	0.10728	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005155	0.012262	0.035088	0.000000	0.017241	0.003049	0.022727	0.05263	3867.83	36	chr19	19544848	.	C	G	3867.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.468;DP=872;ExcessHet=0.119;FS=1.106;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.77;SOR=0.612	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1397	17	0	2	0
chr19	19544989	19544989	G	C	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.G2444C:p.G815A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0467361087175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.0	0.92824	D	0.99	0.63424	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	0.999925	0.51308	D	2.69	0.78713	M	2.88	0.10291	T	-4.6	0.78976	D	0.719	0.75466	-1.1757	0.00437	T	0.071	0.29001	T	10	0.74837387	0.75454	D	0.046736	0.62596	D	0.217	0.51112	0.156	0.05964	0.653643074943	0.65075	0.7125137087205323	0.71193	1.1968291228	0.80426	0.685305595398	0.65031	T	0.404289	0.76079	T	-0.0698179	0.41355	T	-0.338065	0.40563	T	0.985132455825806	0.76219	D	0.978652	0.92496	D	0.43831882	0.63293	0.31191736	0.57195	0.43831882	0.63294	0.31191736	0.57195	-5.435	0.41255	T	.	.	0.179	0.40164	B	.;.	.;.	3.942494	0.57705	23.9	0.99472887242322705	0.66419	0.98485	0.83276	D	AEFDBI	0.871253	0.79255	D	0.695801919831954	0.79355	7.060668	0.691538961192221	0.81735	7.596926	0.999954455496895	0.48110	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.628000	0.82379	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	16.297	0.82604	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1433.33	73	chr19	19544989	.	G	C	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=908;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.08;SOR=0.76	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1417	18	0	1	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.07895	4946.79	34	chr19	19563561	.	C	T	4946.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.266;DP=939;ExcessHet=0.3672;FS=0.843;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.945;SOR=0.759	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1407	16	0	3	0
chr19	19626983	19626983	A	G	exonic	LPAR2	.	nonsynonymous SNV	LPAR2:NM_004720:exon2:c.T302C:p.L101P	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0356857731991	.	.	1.901e-05	0	0	0	0	3.435e-05	0	0	1.29e-05	2	154602	rs757813231	4.791e-06	4.788e-06	6.81e-06	2.752e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	1.657e-05	0	6.568e-06	6.566e-06	0	1.344e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.306	0.14207	T	0.195	0.28032	T	0.88	0.48402	P	0.603	0.50895	P	0.557804	0.11368	N	0.801080	0.999999	0.08975	N	0.17	0.09006	N	-0.59	0.71543	T	3.37	0.00098	N	0.355	0.41459	-0.8312	0.53224	T	0.252	0.62235	T	10	0.3744141	0.53722	T	0.035686	0.56507	D	0.401	0.71479	0.647	0.78436	0.716877464289	0.71439	0.9019687566625986	0.90168	0.788677996729	0.65652	0.42830941081	0.28977	T	0.062015	0.31806	T	-0.0576059	0.43280	T	-0.250685	0.49750	T	0.922090947628021	0.58207	D	0.412859	0.10744	T	0.2520849	0.48222	0.19738744	0.43518	0.2520849	0.48222	0.19738744	0.43517	-2.424	0.05282	T	.	.	0.145	0.32589	B	.;.;.	.;.;.	3.323908	0.45731	22.2	0.98645925844790483	0.44123	0.17641	0.19924	N	AEFBHCI	0.282665	0.39595	N	-0.234993147165965	0.31706	1.780576	-0.30251144782145	0.28017	1.558913	0.999986780405361	0.51787	0.741868	0.97996	0	0.685571	0.66316	0	0.774882	0.98623	0	0.604944	0.38103	0	.	.	4.44	4.44	0.53164	2.536000	0.45351	.	.	0.756000	0.94297	0.010000	0.18352	0.997000	0.33255	0.708000	0.34389	1.0:0.0:0.0:0.0	11.685	0.50744	437	0.80299	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1012.33	36	chr19	19626983	.	A	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.186;DP=750;ExcessHet=0;FS=8.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.578;SOR=1.301	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	19633954	19633954	C	A	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon18:c.G2234T:p.S745I,GMIP:NM_001288999:exon18:c.G2243T:p.S748I,GMIP:NM_016573:exon19:c.G2321T:p.S774I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00672043271566	0.0025	0.00159744	0.0023	0.0004	0.0007	0	0.0004	0.0038	0.0056	0.0002	0.0016947	262	154602	rs141276910	0.0033	0.0032	0.0034	0.0032	0.0039	0.0032	0.0032	0.0038	0.0038	0.0006	0.0004	0.0100	0	0.0006	0.0009	0.0039	0.0025	8.306e-05	0.0023	0.0021	0.0025	0.0020	0.0035	0.0020	0.0020	0.0031	0.0029	0.0004	0	0.0014	0.0108	0	0.0007	0	0.0035	0.0018	0	0.128	0.26965	T	0.049	0.48336	D	0.61	0.39628	P	0.168	0.35187	B	0.090998	0.20348	N	0.417116	0.96435	0.25985	N	2.34	0.67151	M	1.93	0.22881	T	-0.96	0.25551	N	0.292	0.36989	-1.0748	0.08390	T	0.033	0.14073	T	10	0.005707234	0.00127	T	0.00672	0.17756	T	0.015	0.02232	.	.	0.500426043041	0.49678	0.3309748738387334	0.33010	0.689296291096	0.60477	0.391758441925	0.23917	T	0.023811	0.18107	T	-0.571316	0.00217	T	-0.595222	0.13216	T	0.0132169428181038	0.00235	T	0.738526	0.35642	T	0.08935821	0.20875	0.0695477	0.14668	0.08935821	0.20874	0.0695477	0.14667	-6.007	0.46339	T	.	.	0.090	0.18910	B	.;.	.;.	2.445063	0.31476	18.75	0.9819931339563247	0.39105	0.49835	0.28524	N	AEFDBI	0.097691	0.19698	N	-0.427019767423166	0.24526	1.324899	-0.440645345335583	0.23814	1.300721	0.00797432926389712	0.11584	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.43	2.08	0.26079	0.106000	0.15191	.	.	0.599000	0.40250	0.165000	0.23867	1.000000	0.68203	0.071000	0.16709	0.1975:0.6114:0.1912:0.0	7.034	0.24162	437	0.80299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	2062.33	36	chr19	19633954	.	C	A	2062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=793;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=0.527;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1299:.	18	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.022727	0.02632	1214.33	35	chr19	19635648	.	G	T	1214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.082;DP=804;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.279;SOR=0.389	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1310	18	0	1	0
chr19	19642536	19642536	C	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon2:c.G103A:p.V35M,GMIP:NM_001288999:exon2:c.G103A:p.V35M,GMIP:NM_016573:exon2:c.G103A:p.V35M	.	420	1099	2	1	0	4	0.00181653	0.8397	0.518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00708659237561	0.0002	0.000599042	0.0007	0	8.645e-05	0	0	0.0002	0	0.0046	0.0006468	100	154602	rs140925349	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0004	0.0043	0.0041	0	4.487e-05	0.0002	0.0001	0	0.0002	0.0003	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.41e-05	0	6.537e-05	0	0.0004	0	0	0.0003	0	0.0031	0.03	0.45393	D	0.086	0.41074	T	0.968	0.56581	D	0.374	0.43683	B	0.036760	0.24484	N	0.200743	0.807957	0.29036	N	2.8	0.81625	M	1.86	0.24285	T	-1.09	0.28290	N	0.472	0.50778	-0.9592	0.39330	T	0.070	0.28609	T	10	0.010494798	0.00233	T	0.007087	0.18786	T	0.060	0.17295	.	.	0.358744678677	0.35482	0.4513975162507158	0.45057	0.0572773442425	0.06337	0.547930419445	0.45565	T	0.024745	0.18639	T	-0.432345	0.01435	T	-0.393132	0.34185	T	0.0901199381700823	0.11233	T	0.872813	0.58002	D	0.19716491	0.41571	0.22962062	0.48039	0.19716491	0.41570	0.22962062	0.48038	-3.892	0.25275	T	.	.	0.123	0.40842	B	.;.	.;.	4.250489	0.64514	24.7	0.99736974138788637	0.83192	0.63556	0.32126	D	AEFDGBHCI	0.288226	0.40017	N	0.330269694528163	0.57707	3.93923	0.322548757941629	0.56869	3.850825	0.999999999901661	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.526803	0.08958	0	.	.	4.14	4.14	0.47821	1.583000	0.36188	.	.	0.599000	0.40250	0.941000	0.32681	0.974000	0.29927	0.983000	0.59808	0.0:1.0:0.0:0.0	12.086	0.52997	439	0.80177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1586.33	34	chr19	19642536	.	C	T	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=804;ExcessHet=0;FS=3.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.151;SOR=0.97	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1600,0,1530	18	0	1	0
chr19	19892677	19892677	G	A	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.G1202A:p.R401Q,ZNF253:NM_001331133:exon3:c.G1238A:p.R413Q,ZNF253:NM_021047:exon4:c.G1430A:p.R477Q	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00173209447927	0.0017	0.00139776	0.0028	0.0006	0.0031	0	0.0032	0.0036	0.0034	0.0017	0.0026196	405	154602	rs200823374	0.0024	0.0024	0.0024	0.0024	0.0083	0.0023	0.0023	0.0065	0.0058	0.0005	0.0031	0.0052	5.042e-05	0.0028	0.0083	0.0024	0.0029	0.0018	0.0022	0.0022	0.0021	0.0022	0.0028	0.0020	0.0019	0.0024	0.0023	0.0005	0.0253	0.0028	0.0052	0.0002	0.0025	0.0034	0.0028	0.0009	0.0019	.	.	.	0.05	0.48080	T	0.022	0.18677	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	3.4	0.07236	T	.	.	.	0.081	0.07535	-1.0112	0.26541	T	0.034	0.14596	T	7	0.0067026615	0.00152	T	0.001732	0.02908	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.014906593965152617	0.01447	0.121094567029	0.13643	0.23867842555	0.02673	T	0.013433	0.11621	T	-0.646725	0.00076	T	-0.704174	0.05601	T	0.0192100666566046	0.00628	T	0.394461	0.14745	T	0.021767601	0.00797	0.034241162	0.02456	0.021767601	0.00797	0.034241162	0.02456	-3.009	0.10278	T	.	.	0.078	0.13315	B	.;.;.	.;.;.	0.925850	0.13010	9.514	0.97115585891295408	0.32430	0.00007	0.00120	N	AEFBHCI	0.012134	0.00125	N	-1.11509334132243	0.06374	0.2932382	-1.14819409560881	0.06801	0.3285793	0.0017668373506316	0.08861	0.67177	0.52595	0	0.633656	0.55848	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	0.859	-0.423	0.11710	0.354000	0.19885	.	.	-2.866000	0.00169	0.003000	0.16062	.	.	0.000000	0.00833	0.4685:0.0:0.5315:0.0	2.663	0.04725	940	0.13648	Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006915	0.010101	0.009537	0.000000	0.000000	0.000000	0.012500	0.003788	0.02632	1670.33	33	chr19	19892677	.	G	A	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.284;DP=942;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.28;SOR=1.061	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr19	20198071	20198071	G	T	exonic	ZNF486	.	nonsynonymous SNV	ZNF486:NM_052852:exon4:c.G1361T:p.R454I	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00112615754746	.	0.000798722	6.178e-05	0	0.0008	0	0	0	0	0	0.0001358	21	154602	rs546556139	9.229e-05	9.303e-05	7.805e-05	0.0001	0.0029	7.945e-05	7.416e-05	0.0025	0.0023	0.0001	0.0029	0	0	0	0	9.034e-07	6.665e-05	0	0.0011	0.0011	0.0007	0.0015	0.0108	0.0010	0.0009	0.0095	0.0090	4.815e-05	0	0.0108	0	0	0	0	0	0	0	0.323	0.13436	T	0.232	0.24987	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.992375	0.41628	D	2.085	0.57729	M	2.92	0.09915	T	-0.57	0.17210	N	0.175	0.18784	-1.0569	0.12543	T	0.025	0.10464	T	9	0.0068361163	0.00155	T	0.001126	0.01360	T	0.032	0.07718	0.624	0.75916	0.0986583533028	0.09354	0.01058962253952583	0.01019	0.00177889787293	0.00149	0.24459785223	0.03220	T	0.004021	0.03433	T	-0.608304	0.00130	T	-0.650554	0.08915	T	0.0244065184013429	0.01196	T	0.458954	0.13262	T	0.03534747	0.04144	0.03524559	0.02741	0.03534747	0.04144	0.03524559	0.02740	-4.674	0.33088	T	.	.	0.091	0.13127	B	.	.	-0.345811	0.02423	0.273	0.81839915397405882	0.13887	0.04544	0.10180	N	AEFBHCI	0.036649	0.04916	N	-0.836196919353042	0.12392	0.6037711	-0.909003614812255	0.11881	0.6080216	8.96675411636681E-6	0.01202	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	0.85	-0.442	0.11641	-0.353000	0.07740	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.6429:0.0:0.3571:0.0	3.383	0.06840	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	33	chr19	20198071	.	G	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.988;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.327;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1324	18	0	1	0
chr19	20552547	20552547	G	C	exonic	ZNF737	.	nonsynonymous SNV	ZNF737:NM_001159293:exon3:c.C154G:p.L52V	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00316882630094	0.0011	0.000599042	0.0011	0	0.0004	0	0	0.0010	0.0011	0.0040	0.0010479	162	154602	rs368041422	0.0010	0.0010	0.0009	0.0011	0.0074	0.0009	0.0009	0.0056	0.0050	9.444e-05	0.0004	3.998e-05	0	0.0002	0.0074	0.0009	0.0014	0.0037	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0006	0	0	0	0	0.0012	0	0.0025	0.001	0.78490	D	0.493	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.07	0.08264	N	5.65	0.00784	T	-2.18	0.49187	N	0.173	0.20262	-0.8989	0.48105	T	0.003	0.00961	T	8	0.0093719065	0.00212	T	0.003169	0.06936	T	0.024	0.04979	.	.	0.0297737177859	0.01360	.	.	0.00567692617777	0.00497	0.458891749382	0.33158	T	0.017054	0.13979	T	-0.693943	0.00040	T	-0.771367	0.02723	T	0.553232371807098	0.34598	D	0.0182982	0.00306	T	0.1200492	0.28256	0.1962533	0.43346	0.1200492	0.28256	0.1962533	0.43345	-6.381	0.49361	T	.	.	0.083	0.15609	B	.;.	.;.	-0.177890	0.03206	0.531	0.36203879351737073	0.02316	0.00143	0.00871	N	AEFBI	0.025625	0.01787	N	-1.52102344578456	0.01712	0.07491673	-1.67581497964634	0.01248	0.0562457	2.17118306685649E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.118	-0.237	0.12417	-4.164000	0.00320	.	.	-2.371000	0.00303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004242	0.000000	0.004087	0.004132	0.000000	0.008621	0.006135	0.003817	0.02632	1554.33	45	chr19	20552547	.	G	C	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.7;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	18	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,74:75:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1618,120,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,74:75:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1618,120,0:20624327	11	5	0	3
chr19	20950272	20950272	A	G	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.A1566G:p.I522M,ZNF85:NM_003429:exon4:c.A1758G:p.I586M,ZNF85:NM_001256171:exon5:c.A1848G:p.I616M	.	483	1034	4	1	0	6	0.00289296	.	.	.	3358507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00086365524624	0.0009	0.000399361	0.0005	0	0.0003	0	0	0.0007	0.0014	0.0010	0.0004657	72	154602	rs142868740	0.0004	0.0004	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0	0.0006	0	0	1.981e-05	0.0011	0.0004	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	9.62e-05	0	0.0010	0	0	0	0	0.0006	0.0024	0.0008	0.241	0.27904	T	0.07	0.44905	T	0.844	0.46645	P	0.321	0.41760	B	.	.	.	.	0.99907	0.21650	N	0.17	0.09006	N	3.19	0.07353	T	-0.03	0.07444	N	0.092	0.10769	-0.8993	0.48064	T	0.012	0.04653	T	9	0.01911679	0.00423	T	8.64E-4	0.00755	T	0.104	0.29647	.	.	0.128392430309	0.12331	0.004346138476620074	0.00408	0.00397714129987	0.00347	0.264938354492	0.05493	T	0.010901	0.09789	T	-0.61697	0.00115	T	-0.75056	0.03463	T	0.0298076824435031	0.01959	T	0.123788	0.00962	T	0.08252699	0.19017	0.06417454	0.12823	0.08252699	0.19017	0.06417454	0.12823	-6.088	0.47010	T	.	.	0.092	0.13737	B	.;.	.;.	0.885551	0.12589	9.116	0.16243728179672415	0.00428	0.05424	0.11296	N	AEBCI	.	.	.	-0.890058095359788	0.11077	0.5326987	-1.01529972142771	0.09448	0.4701331	1.77505525015762E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.27	1.27	0.20595	0.009000	0.13117	.	.	0.619000	0.51744	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7085:0.2915:0.0:0.0	5.315	0.15158	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002022	0.005155	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1435.33	43	chr19	20950272	.	A	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.606;DP=910;ExcessHet=0;FS=3.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.726;SOR=1.19	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr19	21056681	21056681	G	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.G370T:p.D124Y,ZNF430:NM_025189:exon5:c.G373T:p.D125Y	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0042	0.00299521	0.0038	0.0013	0.0034	0	0.0038	0.0053	0.0036	0.0007	0.003771	583	154602	rs139084188	0.0054	0.0054	0.0054	0.0053	0.0064	0.0053	0.0053	0.0063	0.0062	0.0010	0.0038	0.0005	0	0.0036	0.0009	0.0064	0.0049	0.0005	0.0040	0.0040	0.0041	0.0039	0.0069	0.0037	0.0036	0.0059	0.0055	0.0012	0.0011	0.0069	0.0003	0	0.0033	0	0.0060	0.0043	0.0008	0.046	0.40573	D	0.043	0.49942	D	0.011	0.15914	B	0.049	0.25116	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	3.43	0.05440	T	-7.25	0.94352	D	0.153	0.15749	-1.0867	0.06102	T	0.021	0.08963	T	8	0.0061469376	0.00138	T	.	.	.	0.034	0.08419	.	.	0.0920862733494	0.08535	0.26688770186856137	0.26601	0.179672211306	0.20209	0.270857602358	0.06253	T	0.080877	0.36467	T	-0.630569	0.00095	T	-0.672995	0.07417	T	0.085759041803042	0.10707	T	0.19528	0.02139	T	0.3808528	0.59378	0.43824244	0.67216	0.3808528	0.59378	0.43824244	0.67217	-6.158	0.47582	T	.	.	0.075	0.05711	B	.	.	1.164132	0.15534	11.92	0.9439635856665316	0.24781	0.00779	0.03201	N	AEFBI	0.021222	0.00923	N	-0.934990103796658	0.10032	0.4774966	-1.22127088210481	0.05569	0.2657196	1.09365210804089E-5	0.01202	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.628	-1.26	0.08892	-0.204000	0.09426	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	.	.	.	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.010101	0.001359	0.000000	0.000000	0.008621	0.003067	0.003788	0.02632	1211.33	34	chr19	21056681	.	G	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.008;DP=761;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.878;SOR=0.539	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1297	18	0	1	0
chr19	21118189	21118189	C	T	exonic	ZNF714	.	nonsynonymous SNV	ZNF714:NM_182515:exon5:c.C1525T:p.H509Y	.	433	1074	15	0	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00284650060829	0.0013	0.000998403	0.0012	0.0003	0.0019	0.0002	0.0002	0.0015	0.0060	0.0011	0.0008538	132	154602	rs144995791	0.0007	0.0007	0.0007	0.0008	0.0050	0.0007	0.0007	0.0036	0.0031	8.998e-05	0.0014	0.0010	0	7.547e-05	0.0050	0.0007	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0009	0.0009	0.0002	0	0.0013	0.0012	0	0	0	0.0011	0.0024	0.0012	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.201	0.22228	-0.9226	0.45196	T	0.077	0.30920	T	8	0.010623246	0.00236	T	0.002847	0.05986	T	.	.	.	.	0.126345400529	0.12197	0.01035555626675298	0.00996	.	.	0.334714442492	0.15645	T	.	.	.	-0.647918	0.00074	T	-0.701132	0.05764	T	0.00839211073557418	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.095264	0.00646	0.018	0.30744555834884585	0.01697	0.00058	0.00432	N	AEFDBI	.	.	.	-1.61402166052084	0.01196	0.05199456	-1.75628755199004	0.00910	0.0406963	9.20592974474001E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	0.149	-0.298	0.12179	-0.995000	0.03823	.	.	-0.547000	0.04916	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6843:0.0:0.3157	4.630	0.11884	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010823	0.010526	0.012228	0.000000	0.000000	0.008772	0.015924	0.007634	0.02632	802.33	45	chr19	21118189	.	C	T	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=802;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=0;QD=10.7;ReadPosRankSum=1.12;SOR=1.034	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	18	0	1	0
chr19	21143626	21143626	T	G	exonic	ZNF431	.	nonsynonymous SNV	ZNF431:NM_001319124:exon2:c.T79G:p.Y27D,ZNF431:NM_133473:exon2:c.T79G:p.Y27D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00202623354038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.446e-06	1.375e-06	1.159e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.111	0.57587	T	0.167	0.28604	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	5.89	0.44065	T	-1.11	0.28703	N	0.318	0.48963	-0.9305	0.44066	T	0.009	0.03183	T	8	0.08859047	0.15269	T	0.002026	0.03668	T	0.005	0.00259	0.452	0.51448	0.128392430309	0.12331	0.09342243614942818	0.09274	0.187246192244	0.21039	0.47794175148	0.35773	T	0.038451	0.25516	T	-0.243487	0.14907	T	-0.587529	0.13880	T	0.0634949071098074	0.07706	T	0.153285	0.14697	T	0.14771189	0.33756	0.16952212	0.38992	0.14771189	0.33755	0.16952212	0.38991	-3.233	0.12888	T	.	.	0.188	0.64554	B	.;.;.;.;.	.;.;.;.;.	0.618859	0.09873	6.634	0.69241133234252761	0.08909	0.00945	0.03645	N	AEFDBHCI	0.028309	0.02470	N	-1.16382243217604	0.05556	0.2535953	-1.25560222247687	0.05048	0.2396441	0.996161045526238	0.34566	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.683762	0.67416	0	.	.	0.461	0.461	0.15901	0.279000	0.18532	.	.	0.334000	0.19664	0.006000	0.17386	0.000000	0.08366	0.009000	0.08673	.	.	.	988	0.01987	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	980.33	33	chr19	21143626	.	T	G	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=763;ExcessHet=0;FS=7.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.249;SOR=1.396	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	18	0	1	0
chr19	21293653	21293653	T	C	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.A1121G:p.H374R,ZNF708:NM_001297560:exon4:c.A1121G:p.H374R,ZNF708:NM_021269:exon4:c.A1313G:p.H438R	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.00205761918237	0.0017	0.000599042	0.0017	0.0002	0.0006	0	0.0006	0.0022	0.0022	0.0028	0.0017723	274	154602	rs147864512	0.0025	0.0025	0.0025	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0005	0.0006	7.675e-05	2.523e-05	0.0003	0.0016	0.0028	0.0020	0.0028	0.0015	0.0015	0.0016	0.0014	0.0033	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0008	0	0	9.416e-05	0	0.0026	0.0038	0.0033	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-2.18	0.86722	D	-6.89	0.93257	D	0.347	0.38848	0.089	0.83978	D	0.822	0.94008	D	9	0.0169563	0.00360	T	0.002058	0.03775	T	0.222	0.51872	.	.	0.805846587454	0.80403	0.0234956845571592	0.02301	0.253094250479	0.27877	0.529316186905	0.42938	T	.	.	.	-0.18606	0.22839	T	-0.0411949	0.67621	D	0.210343466738021	0.20971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.67132	A	.	.	2.312067	0.29597	18.17	0.95936271790084282	0.28230	0.77808	0.38301	D	AEBI	0.072565	0.14487	N	0.161499369324575	0.49359	3.137077	-0.175887914038213	0.32426	1.844653	5.18321249635704E-5	0.04171	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	1.05	1.05	0.19280	5.715000	0.68081	.	.	0.572000	0.28966	1.000000	0.71638	0.038000	0.21505	0.010000	0.09038	0.0:0.0:0.0:1.0	7.056	0.24278	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002554	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1375.33	34	chr19	21293653	.	T	C	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.677;DP=744;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.528;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,10:128:65:0|1:21383168_A_G:65,0,4925:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,9:128:20:0|1:21383168_A_G:20,0,4970:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:115,8:123:10:0|1:21383168_A_G:0,10,4815:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:118,8:126:19:0|1:21383168_A_G:0,19,4950:21383168	12	0	6	1
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.92	169	chr19	21383216	.	A	G	332.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.1;DP=1565;ExcessHet=0.3672;FS=37.063;InbreedingCoeff=-0.1015;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-11.79;QD=0.72;ReadPosRankSum=0.612;SOR=5.181	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	15	0	3	1
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	152.97	171	chr19	21383222	.	C	A	152.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=3.2;DP=1552;ExcessHet=0.3672;FS=31.329;InbreedingCoeff=-0.1029;MLEAC=3;MLEAF=0.083;MQ=58.96;MQRankSum=-11.74;QD=0.33;ReadPosRankSum=-0.962;SOR=4.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	15	0	3	1
chr19	21383228	21383228	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A682G:p.R228G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224923620	0	2.466e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.677e-06	0.0004	1.304e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	127.35	39	chr19	21383228	.	A	G	127.35	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.28;DP=1277;ExcessHet=0.119;FS=20.958;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.028;MQ=58.47;MQRankSum=-10.83;QD=0.48;ReadPosRankSum=-0.018;SOR=2.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	16	0	2	1
chr19	21383229	21383229	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G683A:p.R228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307063752	0	2.465e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.692e-06	0.0003	1.305e-05	0	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	85.97	39	chr19	21383229	.	G	A	85.97	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.74;DP=1268;ExcessHet=0.119;FS=28.966;InbreedingCoeff=-0.0632;MLEAC=1;MLEAF=0.028;MQ=58.55;MQRankSum=-10.79;QD=0.32;ReadPosRankSum=-0.193;SOR=3.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	16	0	2	1
chr19	21383231	21383231	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232738302	0	2.329e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.685e-06	0.0004	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	91.67	39	chr19	21383231	.	G	A	91.67	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3;DP=1261;ExcessHet=0.119;FS=27.176;InbreedingCoeff=-0.0693;MLEAC=2;MLEAF=0.056;MQ=58.74;MQRankSum=-11.08;QD=0.35;ReadPosRankSum=-0.587;SOR=4.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	16	0	2	1
chr19	21383236	21383240	TTCTT	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.690_694del:p.N230Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282987711	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	0.0003	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	49.47	39	chr19	21383235	.	ATTCTT	A	49.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.77;DP=1229;ExcessHet=0.119;FS=26.461;InbreedingCoeff=-0.0534;MLEAC=1;MLEAF=0.026;MQ=58.55;MQRankSum=-10.7;QD=0.19;ReadPosRankSum=-0.696;SOR=3.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	17	0	2	0
chr19	21383242	21383242	-	CCCA	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.696_697insCCCA:p.Q233Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486170617	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.576e-06	0.0003	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	57.44	39	chr19	21383242	.	C	CCCCA	57.44	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=1198;ExcessHet=0;FS=38.461;InbreedingCoeff=-0.035;MLEAC=1;MLEAF=0.026;MQ=58.69;MQRankSum=-11.03;QD=0.46;ReadPosRankSum=-1.487;SOR=4.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	18	0	1	0
chr19	21383245	21383245	-	G	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.699_700insG:p.C234Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204098212	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.646e-06	0.0003	1.299e-05	0	1.483e-05	0	0	.	.	0	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	72.66	39	chr19	21383245	.	A	AG	72.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1192;ExcessHet=0;FS=38.51;InbreedingCoeff=-0.0434;MLEAC=1;MLEAF=0.026;MQ=58.67;MQRankSum=-10.93;QD=0.6;ReadPosRankSum=-2.113;SOR=4.265	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	18	0	1	0
chr19	21383247	21383247	G	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G701C:p.C234S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231355115	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.648e-06	0.0002	1.298e-05	0	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	41.09	39	chr19	21383247	.	G	C	41.09	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.43;DP=1105;ExcessHet=0.119;FS=21.538;InbreedingCoeff=-0.0682;MLEAC=2;MLEAF=0.056;MQ=58.4;MQRankSum=-9.994;QD=0.18;ReadPosRankSum=-2.43;SOR=3.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	16	0	2	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,116,1794:.	13	1	5	0
chr19	21424743	21424743	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_175910:exon2:c.A1700G:p.Y567C,ZNF493:NM_001076678:exon4:c.A2084G:p.Y695C	.	415	1104	3	0	0	3	0.00135685	.	.	.	3350641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00132440839735	0.0004	0.000199681	0.0003	0	0.0009	0	0	0.0003	0.0011	0	0.0002393	37	154602	rs185810129	0.0003	0.0003	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	2.991e-05	0.0007	0	0	0	0.0017	0.0003	0.0002	1.16e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	9.643e-05	0	0.0007	0	0	0	0.0034	0.0003	0.0014	0	0.185	0.22138	T	0.19	0.30631	T	0.939	0.52645	P	0.534	0.48679	P	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	2.19	0.18724	T	-0.89	0.24026	N	0.173	0.18512	-1.0553	0.12961	T	0.033	0.14029	T	9	0.020548075	0.00476	T	0.001324	0.01860	T	0.022	0.04323	.	.	0.471778926243	0.46806	0.006535967063871958	0.00621	0.0639729178605	0.07127	0.323343038559	0.13926	T	0.016546	0.13654	T	-0.557223	0.00264	T	-0.665925	0.07872	T	0.0322765564876581	0.02350	T	0.225777	0.02969	T	0.0687059	0.14991	0.05704895	0.10303	0.0687059	0.14991	0.05704895	0.10303	-5.576	0.42573	T	.	.	0.095	0.17573	B	.;.	.;.	1.199173	0.15912	12.19	0.15068419058079693	0.00355	0.00895	0.03516	N	AEFBCI	0.024842	0.01604	N	-0.919584859721539	0.10384	0.495975	-1.06857414501489	0.08324	0.4088005	1.05490704848131E-5	0.01202	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	1.14	1.14	0.19817	-1.498000	0.02392	.	.	0.363000	0.20128	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7807:0.0:0.2193:0.0	4.267	0.10218	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1846.33	36	chr19	21424743	.	A	G	1846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=1083;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.017;SOR=0.848	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1170	18	0	1	0
chr19	21809073	21809073	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G769A:p.A257T,ZNF43:NM_001256654:exon3:c.G769A:p.A257T,ZNF43:NM_001256653:exon4:c.G991A:p.A331T,ZNF43:NM_003423:exon4:c.G964A:p.A322T,ZNF43:NM_001256650:exon6:c.G946A:p.A316T,ZNF43:NM_001256648:exon7:c.G946A:p.A316T,ZNF43:NM_001256649:exon7:c.G946A:p.A316T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00271344121165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481808404	6.843e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.144	0.34837	T	0.927	0.51527	P	0.665	0.52961	P	.	.	.	.	0.999995	0.08975	N	0.1	0.08449	N	5.62	0.00808	T	-2.27	0.50666	N	0.037	0.01274	-0.9021	0.47771	T	0.003	0.00897	T	9	0.09373763	0.16613	T	0.002713	0.05579	T	0.059	0.16972	0.359	0.36222	0.254244900254	0.25046	0.004721165058159347	0.00445	0.142893324552	0.16124	0.28569856286	0.08299	T	0.125619	0.45145	T	-0.339424	0.05427	T	-0.725335	0.04542	T	0.269097566981611	0.23708	T	0.0623938	0.00453	T	0.034248363	0.03807	0.07121124	0.15221	0.034248363	0.03806	0.07121124	0.15221	-6.469	0.50325	T	.	.	0.149	0.32874	B	.;.;.;.;.	.;.;.;.;.	1.319343	0.17233	13.04	0.98839824663012654	0.47102	0.00000	0.00017	N	AEFDBHCI	0.017374	0.00451	N	-0.763571002874205	0.14267	0.7093076	-0.981934705496515	0.10192	0.5117169	0.0021072840130889	0.09158	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	1.61	-0.821	0.10276	-0.430000	0.07043	.	.	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.207:0.2498:0.2047:0.3384	0.211	0.00145	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1422.33	36	chr19	21809073	.	C	T	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.534;DP=762;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.43;MQRankSum=2.19;QD=11.75;ReadPosRankSum=1.14;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	18	0	1	0
chr19	21971982	21971982	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3052C:p.E1018Q	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	7.9e-05	0.00279553	0.0008	0	0	0.0110	0	3e-05	0	0.0003	0.0006531	17	26028	rs147587683	0.0005	0.0005	0.0005	0.0004	0.0144	0.0004	0.0004	0.0135	0.0131	0	0	7.659e-05	0.0144	0	0.0012	3.688e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0005	0.0109	0.0003	0.0003	0.0086	0.0077	0	0	6.713e-05	0	0.0109	0	0	2.994e-05	0	0.0004	0.528	0.07071	T	0.613	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	3.11	0.08194	T	0.18	0.05035	N	0.084	0.06059	-0.9086	0.47025	T	0.006	0.01981	T	8	0.0075612366	0.00172	T	.	.	.	0.002	0.00045	.	.	0.0611884634855	0.05136	0.004480461146775183	0.00421	0.00859954335189	0.00783	0.456201434135	0.32791	T	0.001562	0.01004	T	-0.758583	0.00015	T	-0.854467	0.00905	T	0.0113266873565474	0.00168	T	0.0191981	0.00194	T	0.04120666	0.06027	0.027584784	0.00922	0.04120666	0.06027	0.027584784	0.00922	-8.425	0.63931	D	.	.	0.184	0.39915	B	.;.	.;.	-0.869215	0.00978	0.039	0.10733587385434182	0.00143	0.01285	0.04481	N	AEFBHCI	0.030660	0.03130	N	-1.2968048760855	0.03714	0.1664003	-1.41793932087278	0.03072	0.1426226	1.68742427206965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.45	-1.69	0.07747	-2.876000	0.00786	.	.	-1.231000	0.01326	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.5569:0.0:0.4431	7.821	0.28450	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	2169.33	40	chr19	21971982	.	C	G	2169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=1629;ExcessHet=0;FS=4.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.55;QD=14.18;ReadPosRankSum=0.899;SOR=0.444	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	18	0	1	0
chr19	22088908	22088908	C	A	exonic	ZNF257	.	nonsynonymous SNV	ZNF257:NM_001316998:exon2:c.C930A:p.H310Q,ZNF257:NM_033468:exon4:c.C1158A:p.H386Q,ZNF257:NM_001316996:exon5:c.C1062A:p.H354Q,ZNF257:NM_001316997:exon5:c.C930A:p.H310Q	.	.	.	.	.	.	.	.	.	.	.	3930938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.000566805124173	7.9e-05	.	8.426e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs375438382	1.575e-05	1.574e-05	2.044e-05	1.101e-05	0.0002	1.049e-05	8.76e-06	1.215e-05	1.031e-05	0	0	0	0	0	0.0002	1.89e-05	1.658e-05	0	1.318e-05	1.315e-05	2.577e-05	0	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	.	.	.	0.583	0.08419	T	0.006	0.13644	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	3.21	0.07125	T	.	.	.	0.052	0.02366	-1.0216	0.23195	T	0.053	0.22346	T	8	0.0659484	0.08975	T	5.67E-4	0.00233	T	.	.	0.189	0.09907	0.17258766438	0.16869	0.009297403749626839	0.00892	0.00990482435989	0.00904	0.313089847565	0.12374	T	0.015143	0.12759	T	-0.544819	0.00313	T	-0.838225	0.01126	T	0.0261182720900389	0.01423	T	0.00315968	0.00008	T	0.059598092	0.12133	0.056545097	0.10123	0.059598092	0.12132	0.056545097	0.10123	-7.185	0.55373	T	.	.	0.345	0.56271	A	.	.	0.161625	0.05522	1.983	0.3170186151082704	0.01800	0.02605	0.07176	N	AEFBHCI	.	.	.	-1.08021580051837	0.07008	0.3243047	-1.11035595069801	0.07501	0.3651293	1.09731779904819E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.11	-0.0519	0.13155	-4.619000	0.00239	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7893:0.0:0.2107	6.521	0.21471	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002130	0.000000	0.001366	0.000000	0.055556	0.000000	0.006211	0.000000	0.02632	1352.33	34	chr19	22088908	.	C	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=712;ExcessHet=0;FS=2.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.05;QD=15.72;ReadPosRankSum=-0.143;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	18	0	1	0
chr19	22181587	22181587	C	T	splicing	ZNF676	NM_001001411:exon3:c.131-1G>A	.	.	.	516	1001	5	0	0	5	0.00249128	1.0000	0.728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.00159744	0.0026	0.0003	0.0046	0	0.0034	0.0030	0.0125	0.0010	0.0016429	254	154602	rs184813715	0.0019	0.0019	0.0018	0.0020	0.0046	0.0018	0.0018	0.0032	0.0027	9.921e-05	0.0025	0.0011	0	0.0035	0.0046	0.0020	0.0018	0.0005	0.0018	0.0018	0.0017	0.0019	0.0031	0.0017	0.0016	0.0024	0.0021	0.0003	0	0.0031	0.0012	0.0002	0.0039	0	0.0024	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.68482	0.00045	T	-0.760151	0.03107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.195154	0.43431	21.7	0.62864659411788693	0.07072	0.00462	0.02227	N	AEFBI	.	.	.	-0.0607971461900368	0.39122	2.302013	-0.529025176563657	0.21367	1.155498	6.11641323339473E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0455939	0.04545	0.113	0.113	0.13937	-0.649000	0.05483	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	.	.	.	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.33	39	chr19	22181587	.	C	T	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.96;ReadPosRankSum=-1.365;SOR=0.773	GT:AD:DP:GQ:PL	0/0:38,0:38:93:0,93,1395	18	0	1	0
chr19	22316140	22316140	G	C	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G2723C:p.C908S	.	455	1034	30	3	0	36	0.0171103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0075	0.0012	0.0111	0.0001	0.0014	0.0091	0.0138	0.0078	0.0012031	186	154602	rs142098308	0.0085	0.0085	0.0085	0.0086	0.0093	0.0084	0.0084	0.0091	0.0090	0.0017	0.0077	0.0157	5.051e-05	0.0016	0.0091	0.0093	0.0091	0.0078	0.0061	0.0061	0.0063	0.0059	0.0093	0.0058	0.0056	0.0087	0.0084	0.0017	0	0.0065	0.0191	0	0.0009	0.0250	0.0093	0.0058	0.0066	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.18665	N	2.48	0.14657	T	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.0044867396	0.00092	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.015598078918658713	0.01515	0.0172638176205	0.01676	0.30238366127	0.10757	T	8.34E-4	0.00412	T	-0.650453	0.00072	T	-0.699146	0.05873	T	.	.	.	0.0314968	0.00200	T	0.047399435	0.08094	0.13892062	0.33163	0.047399435	0.08094	0.13892062	0.33162	-8.164	0.62182	D	.	.	0.298	0.52865	B	.	.	0.876322	0.12494	9.025	0.55101015167109779	0.05272	0.00627	0.02761	N	AEFBI	0.040645	0.06074	N	.	.	.	.	.	.	2.15940728930178E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.0	0.07024	-0.416000	0.07162	.	.	-1.010000	0.01767	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5207:0.0:0.2468:0.2325	2.439	0.04217	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF724	Artery_Aorta	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010417	0.000000	0.005435	0.005319	0.000000	0.025862	0.018519	0.019231	0.02632	1905.33	34	chr19	22316140	.	G	C	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.348;DP=819;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.4;MQRankSum=0.57;QD=12.06;ReadPosRankSum=-1.942;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1201:.	18	0	1	0
chr19	22392620	22392622	ACT	-	exonic	ZNF98	.	nonframeshift deletion	ZNF98:NM_001098626:exon4:c.613_615del:p.S205del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2394.29	37	chr19	22392619	.	CACT	C	2394.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.72;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.94;MQRankSum=7.27;QD=19.31;ReadPosRankSum=-0.189;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	18	0	1	0
chr19	22392634	22392634	T	A	exonic	ZNF98	.	stopgain	ZNF98:NM_001098626:exon4:c.A601T:p.K201X	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0007	6.5e-06	1	154602	rs758446016	0.0001	0.0001	7.744e-05	0.0001	0.0018	8.664e-05	8.124e-05	0.0010	0.0007	0	0.0002	0	0	0	0.0018	8.1e-05	0.0002	0.0003	9.196e-05	9.192e-05	7.707e-05	0.0001	0.0004	5.526e-05	4.363e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.024	0.00445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.432546	0.01431	T	-0.544841	0.17823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.058586	0.60212	24.2	0.84231976572819667	0.15172	0.00469	0.02250	N	AEFBI	0.029114	0.02689	N	-0.827353495988023	0.12613	0.6159607	-1.263938616502	0.04927	0.233621	2.49645877276623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.56	0.05903	-1.169000	0.03230	.	.	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1641:0.2255:0.2637:0.3467	0.565	0.00641	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001601	0.000000	0.001374	0.000000	0.000000	0.000000	0.006135	0.003788	0.02632	1744.33	37	chr19	22392634	.	T	A	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.517;DP=805;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.65;MQRankSum=-7.077;QD=13.84;ReadPosRankSum=-2.048;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	18	0	1	0
chr19	22392677	22392677	T	G	exonic	ZNF98	.	nonsynonymous SNV	ZNF98:NM_001098626:exon4:c.A558C:p.E186D	.	412	1098	12	0	0	12	0.00543478	.	.	.	3358715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00286281557797	0.0002	.	0.0010	0.0002	0.0030	0	0	0.0016	0.0023	0.0004	0.0003558	55	154602	rs201287965	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0041	0.0036	0.0006	0.0005	0.0007	0	0	0.0056	0.0003	0.0005	0.0003	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0.0009	0	0	0	0.0004	0	0.0004	0.012	0.54683	D	0.084	0.41239	T	0.061	0.23190	B	0.168	0.35187	B	.	.	.	.	0.999997	0.08975	N	1.995	0.54099	M	3.18	0.07478	T	-1.77	0.41809	N	0.13	0.12484	-0.9204	0.45499	T	0.017	0.07045	T	9	0.019540578	0.00438	T	0.002863	0.06015	T	0.013	0.01715	0.303	0.27164	0.180583059064	0.17676	0.0038885270014043425	0.00364	1.81731878846	0.91879	0.250135540962	0.03782	T	0.062952	0.32049	T	-0.548813	0.00296	T	-0.676677	0.07188	T	0.0236373618245125	0.01099	T	0.20098	0.02286	T	0.12064056	0.28383	0.10938568	0.26361	0.12064056	0.28383	0.10938568	0.26361	-4.792	0.34498	T	.	.	0.112	0.21877	B	.	.	1.733230	0.22059	15.46	0.96669340664065762	0.30657	0.00362	0.01852	N	AEFBI	0.039890	0.05856	N	-1.20846217329387	0.04875	0.2209929	-1.36604503674664	0.03620	0.1692445	3.01191112724562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.34	0.06321	-5.504000	0.00140	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.3496:0.2136:0.4368	3.447	0.07053	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004237	0.000000	0.004076	0.016393	0.000000	0.000000	0.000000	0.003788	0.02632	1386.33	37	chr19	22392677	.	T	G	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=879;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.42;MQRankSum=7.03;QD=12.84;ReadPosRankSum=-0.888;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1198:.	18	0	1	0
chr19	22758164	22758164	C	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1745A:p.R582K	.	431	1042	45	4	0	53	0.0248011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0036	0.00439297	0.0062	0.0005	0.0029	0	0.0021	0.0052	0.0078	0.0209	0.0056338	871	154602	rs140912526	0.0051	0.0051	0.0045	0.0058	0.0193	0.0050	0.0050	0.0185	0.0182	0.0004	0.0027	0.0169	5.044e-05	0.0022	0.0151	0.0043	0.0053	0.0193	0.0037	0.0036	0.0037	0.0037	0.0182	0.0034	0.0033	0.0150	0.0139	0.0008	0.0364	0.0027	0.0199	0.0002	0.0022	0.0041	0.0039	0.0055	0.0182	0.955	0.02121	T	0.993	0.02654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.22	0.07024	T	-0.07	0.08033	N	0.03	0.01068	-0.9262	0.44688	T	0.007	0.02439	T	9	0.005250722	0.00115	T	.	.	.	0.002	0.00045	.	.	0.0138822411134	0.00435	0.007568381517586175	0.00722	0.0159797266586	0.01529	0.28009980917	0.07507	T	0.021037	0.16455	T	-0.762319	0.00015	T	-0.852199	0.00932	T	0.00720244600762452	0.00082	T	0.0149985	0.00227	T	0.022412388	0.00902	0.05367581	0.09086	0.022412388	0.00902	0.05367581	0.09086	-8.026	0.61247	D	.	.	0.163	0.35890	B	.;.	.;.	-2.056959	0.00089	0.002	0.31885215178464144	0.01820	0.00103	0.00666	N	AEFBI	0.027479	0.02252	N	-1.95929560019984	0.00258	0.01108298	-2.06489624426433	0.00222	0.009788571	7.52781200786819E-4	0.07758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.88	0.05342	-4.971000	0.00192	.	.	-3.450000	0.00084	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1746:0.4123:0.1367:0.2764	1.478	0.02284	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013256	0.005051	0.013587	0.008264	0.000000	0.000000	0.018519	0.015152	0.05263	5712.81	167	chr19	22758164	.	C	T	5712.81	.	AC=2;AF=0.053;AN=38;DP=1476;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.47;QD=34.21;SOR=0.779	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1176	18	1	0	0
chr19	22758350	22758350	T	C	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.A1559G:p.H520R	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000654558762298	.	0.000998403	0.0005	0	0	0.0039	0	1.539e-05	0.0011	0.0012	0.0001921	5	26028	rs555889541	0.0001	0.0002	7.356e-05	0.0001	0.0017	8.922e-05	8.406e-05	0.0014	0.0013	0	0	0	0.0017	0	0.0017	2.699e-06	0.0001	0.0007	0.0001	0.0002	0.0001	8.095e-05	0.0026	7.118e-05	5.769e-05	0.0015	0.0012	0	0	0	0	0.0026	0	0	0	0	0.0008	0.601	0.05618	T	0.587	0.11586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.415	0.12483	N	2.89	0.10196	T	-0.54	0.16598	N	0.024	0.01911	-0.9389	0.42790	T	0.015	0.06186	T	9	0.006577015	0.00149	T	6.55E-4	0.00350	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.006545758269375371	0.00622	0.0172038814892	0.01670	0.281351387501	0.07682	T	0.031941	0.22267	T	-0.760922	0.00015	T	-0.873052	0.00714	T	0.0124675248085512	0.00205	T	0.0208979	0.00116	T	0.02602022	0.01607	0.05360453	0.09062	0.02602022	0.01606	0.05360453	0.09061	-4.394	0.29475	T	.	.	0.213	0.44135	B	.;.	.;.	-1.650472	0.00216	0.003	0.26305179373283971	0.01254	0.00424	0.02089	N	AEFBI	0.031681	0.03434	N	-1.19869480240538	0.05020	0.2278885	-1.26152604800162	0.04962	0.2353598	1.28197874612141E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-5.360000	0.00153	.	.	-3.882000	0.00054	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.2962:0.7038	5.213	0.14649	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	324.33	156	chr19	22758350	.	T	C	324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.05;DP=1457;ExcessHet=0;FS=11.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.36;MQRankSum=-3.925;QD=2.98;ReadPosRankSum=-2.225;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1176:.	18	0	1	0
chr19	22758766	22758766	C	G	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1143C:p.L381F	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000479845964347	.	0.000998403	0.0002	0	8.642e-05	0	0	1.5e-05	0	0.0015	0.0002005	31	154602	rs539751305	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	3.016e-05	0	0	0	0	0.0004	9.394e-05	0.0002	0.0017	7.972e-05	9.23e-05	5.195e-05	0.0001	0.0021	4.543e-05	3.549e-05	0.0011	0.0009	2.445e-05	0	0	0	0	0	0	1.48e-05	0	0.0021	0.355	0.12109	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.22	0.09567	N	2.39	0.15724	T	0.37	0.03639	N	0.044	0.05670	-0.9385	0.42853	T	0.022	0.09147	T	9	0.01118198	0.00246	T	4.8E-4	0.00133	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.0035886764970002693	0.00335	0.0160938352243	0.01538	0.302615761757	0.10792	T	0.028658	0.20707	T	-0.756454	0.00016	T	-0.889449	0.00579	T	0.0708081668462036	0.08764	T	0.0449955	0.00681	T	0.023256425	0.01050	0.047297906	0.06783	0.023256425	0.01050	0.047297906	0.06783	-0.217	0.00435	T	.	.	0.087	0.11366	B	.;.	.;.	-1.141527	0.00592	0.015	0.23121585542732107	0.00963	0.00085	0.00571	N	AEFBI	0.017670	0.00479	N	-2.22393890979465	0.00068	0.002894926	-2.3477772528545	0.00052	0.002282033	0.0042752526358043	0.10483	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.55	0.05922	-3.487000	0.00506	.	.	-2.244000	0.00339	0.000000	0.06391	0.012000	0.20211	0.000000	0.00833	0.274:0.3385:0.2185:0.169	0.821	0.01041	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2182.33	75	chr19	22758766	.	C	G	2182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=1334;ExcessHet=0;FS=2.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.57;MQRankSum=-1.883;QD=12.69;ReadPosRankSum=-0.066;SOR=0.644	GT:AD:DP:GQ:PL	0/1:93,79:172:99:2196,0,2479	18	0	1	0
chr19	22759000	22759000	A	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.T909A:p.H303Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.00282343698025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	3.78	0.95251	H	-2.18	0.86722	D	-6.7	0.92476	D	0.157	0.18649	0.045	0.83151	D	0.755	0.91637	D	9	0.23535162	0.40594	T	0.002823	0.05898	T	0.210	0.50028	.	.	0.305086939656	0.30112	0.018168001828132368	0.01770	0.125861384689	0.14188	0.524907052517	0.42317	T	0.23825	0.60611	T	-0.131022	0.31331	T	-0.42598	0.30392	T	0.482763366607561	0.31998	T	0.0893911	0.07732	T	0.03825647	0.05063	0.053257383	0.08936	0.03825647	0.05063	0.053257383	0.08936	-10.576	0.77283	D	.	.	0.576	0.69771	P	.;.	.;.	1.166233	0.15557	11.94	0.6794574473567333	0.08507	0.04619	0.10280	N	AEFBI	0.054170	0.09825	N	-0.226524877554568	0.32049	1.803346	-0.587174488381215	0.19827	1.065533	1.36854833728926E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.34	1.34	0.21018	-1.105000	0.03433	.	.	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7946:0.0:0.2054:0.0	4.067	0.09342	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	75	chr19	22759000	.	A	T	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=1104;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.41;QD=13.62;ReadPosRankSum=-0.288;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	22759465	22759465	G	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.C444A:p.N148K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000935345684201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.04456	T	0.22	0.25907	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.65	0.35775	T	-2.7	0.57599	D	0.044	0.05162	-1.0174	0.24560	T	0.028	0.12014	T	9	0.04697579	0.03955	T	9.35E-4	0.00911	T	0.017	0.02790	.	.	0.0551355673512	0.04727	0.004355172275228005	0.00409	0.0240627648956	0.02442	0.347415685654	0.17541	T	0.122262	0.44581	T	-0.398311	0.02375	T	-0.809923	0.01667	T	0.0734947575250282	0.09133	T	0.0894911	0.00663	T	0.026629655	0.01745	0.041058727	0.04580	0.026629655	0.01745	0.041058727	0.04580	-4.886	0.35577	T	.	.	0.110	0.21877	B	.;.	.;.	-1.687127	0.00200	0.003	0.39880723345543695	0.02780	0.00229	0.01284	N	AEFBI	0.023709	0.01360	N	-1.85197758697155	0.00430	0.01849717	-1.95974703976817	0.00371	0.01640442	7.84120020547189E-4	0.07810	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.09	-4.18	0.03584	-5.187000	0.00169	.	.	-3.160000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2767:0.2656:0.1106:0.347	0.618	0.00722	988	0.01987	.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2196.33	75	chr19	22759465	.	G	T	2196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=1173;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.498;SOR=0.805	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	22857489	22857489	T	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.T598C:p.C200R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.007e-06	8.206e-07	0	1.95e-06	1.449e-06	0	0	.	.	0	0	0	0	0	0	1.449e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1202032	0.22763	T	.	.	.	.	.	.	.	.	.	0.0018675312966726179	0.00172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148735	0.00082	T	0.24421991	0.47369	0.3249721	0.58417	0.24421991	0.47368	0.3249721	0.58416	-3.098	0.11273	T	.	.	0.083	0.09385	B	.	.	-0.173883	0.03226	0.540	0.34939964514358007	0.02165	0.00018	0.00208	N	AEFBCI	.	.	.	.	.	.	.	.	.	3.87582554208468E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.104135	0.22801	0.515	-1.03	0.09586	-0.256000	0.08778	.	.	-2.345000	0.00310	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7153:0.0:0.2847	6.968	0.23814	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2742.33	33	chr19	22857489	.	T	C	2742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=933;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.564;SOR=0.694	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1220	18	0	1	0
chr19	23223989	23223989	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C256T:p.R86W,ZNF724:NM_001355405:exon4:c.C64T:p.R22W,ZNF724:NM_001355406:exon5:c.C238T:p.R80W	.	456	1059	7	0	0	7	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.000599042	0.0020	0.0002	0	0	0	0.0007	0	0.0110	0.0010155	157	154602	rs201600731	0.0009	0.0009	0.0006	0.0012	0.0062	0.0009	0.0008	0.0057	0.0055	0	0.0003	0.0030	0	0	0.0060	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0.0002	0.0009	0	9.461e-05	0.0034	0.0002	0.0005	0.0068	1.0	0.00964	T	0.44	0.13328	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	10.42	0.00000	N	0.195	0.21449	-0.9345	0.43470	T	0.013	0.05273	T	8	0.005791247	0.00129	T	.	.	.	0.029	0.06676	0.361	0.36548	0.137902524267	0.13322	0.05825486345427175	0.05766	0.122939414534	0.13855	.	.	.	0.003592	0.03000	T	-0.645954	0.00077	T	-0.695095	0.06097	T	0.00172272489118834	0.00018	T	0.090191	0.02467	T	0.030656675	0.02766	0.030080814	0.01420	0.030656675	0.02766	0.030080814	0.01420	1.036	0.00127	T	.	.	0.071	0.06114	B	.;.;.	.;.;.	0.531392	0.09002	5.783	0.044671726736230974	0.00003	0.00075	0.00520	N	AEFBCI	0.020953	0.00882	N	-1.17255327450351	0.05418	0.2469752	-1.26992913276605	0.04843	0.2294047	3.04484372867719E-4	0.06454	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	1.28	1.28	0.20656	-0.301000	0.08269	.	.	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.7289:0.0:0.2711:0.0	3.320	0.06634	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2473.83	67	chr19	23223989	.	G	A	2473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.48;DP=1227;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.118;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,43:72:99:0|1:23223989_G_A:1175,0,1089:23223989	17	0	2	0
chr19	23360782	23360782	T	C	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.A2101G:p.K701E,ZNF91:NM_003430:exon4:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00222926462638	.	.	6.689e-05	0	0	0	0	5.272e-05	0.0012	0.0002	3.84e-05	1	26028	rs759791216	5.544e-05	5.541e-05	5.721e-05	5.366e-05	0.0001	4.546e-05	4.158e-05	7.126e-05	5.483e-05	0	0	0	0	0	0	6.298e-05	0	0.0001	1.973e-05	1.971e-05	2.572e-05	1.345e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.181	0.34621	T	0.069	0.43913	T	0.494	0.37037	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	0.12	0.08593	N	0.73	0.50721	T	-1.52	0.40660	N	0.075	0.07949	-1.0517	0.13926	T	0.055	0.23375	T	9	0.07001716	0.10126	T	0.002229	0.04233	T	0.031	0.07369	.	.	0.315903272564	0.31202	0.022374612183570203	0.02189	0.920550017077	0.71431	0.26968345046	0.06099	T	0.001648	0.01075	T	-0.430996	0.01462	T	-0.577437	0.14774	T	0.0442355711820356	0.04463	T	0.594141	0.21965	T	0.06445709	0.13678	0.058007065	0.10646	0.06445709	0.13677	0.058007065	0.10646	-8.967	0.68184	D	.	.	0.189	0.40730	B	.;.	.;.	1.425993	0.18436	13.73	0.69487844440258073	0.08988	0.01867	0.05758	N	AEFGBCI	0.032753	0.03759	N	-1.19665176261869	0.05050	0.2293487	-1.37639870463612	0.03505	0.1636344	3.8009810718173E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	1.71	-3.43	0.04507	-0.243000	0.08933	.	.	0.304000	0.19002	0.007000	0.17678	0.000000	0.08366	0.004000	0.06068	0.1654:0.1704:0.4131:0.2511	1.146	0.01667	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1706.33	33	chr19	23360782	.	T	C	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=1580;ExcessHet=0;FS=2.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.45;MQRankSum=-0.96;QD=12.45;ReadPosRankSum=-0.093;SOR=0.579	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	18	0	1	0
chr19	23361430	23361430	G	A	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.C1453T:p.P485S,ZNF91:NM_003430:exon4:c.C1549T:p.P517S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00303218989502	.	0.000599042	0.0002	0	0	0	0	1.513e-05	0.0011	0.0016	0.000207	32	154602	rs550074503	0.0001	0.0001	7.761e-05	0.0001	0.0017	9.605e-05	9.085e-05	0.0015	0.0014	0	0	0	0	0	0.0002	0	0.0002	0.0017	4.607e-05	4.598e-05	1.287e-05	8.078e-05	0.0015	2.112e-05	1.529e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.04	0.68238	D	0.023	0.60972	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.982649	0.30357	N	1.05	0.26816	L	1.88	0.28391	T	-5.71	0.87457	D	0.139	0.20129	-0.9015	0.47835	T	0.123	0.42631	T	9	0.02085054	0.00488	T	0.003032	0.06517	T	0.198	0.48105	0.338	0.32816	0.460526725402	0.45678	0.008063395122404253	0.00771	0.77361900587	0.64902	0.293578714132	0.09446	T	0.045241	0.27062	T	-0.505006	0.00536	T	-0.52281	0.20010	T	0.248542340886933	0.22807	T	0.0214979	0.00129	T	0.06825256	0.14853	0.12353006	0.29786	0.06825256	0.14853	0.12353006	0.29786	-7.062	0.54486	T	.	.	0.271	0.50472	B	.;.	.;.	1.463390	0.18861	13.96	0.99019841216308335	0.50548	0.83320	0.42446	D	AEFBCI	0.159071	0.28482	N	-0.00404489583872018	0.41672	2.496801	-0.213565673332928	0.31047	1.753553	6.39496180897282E-4	0.07505	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	1.71	1.71	0.23429	2.411000	0.44254	.	.	0.318000	0.19305	0.973000	0.34540	0.000000	0.08366	0.008000	0.08271	0.0:0.0:1.0:0.0	10.370	0.43229	988	0.01987	Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1080.33	33	chr19	23361430	.	G	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.924;DP=1474;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=0.977;QD=12.86;ReadPosRankSum=0.65;SOR=0.405	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1094,0,1169	18	0	1	0
chr19	23744720	23744720	G	A	exonic	ZNF681	.	nonsynonymous SNV	ZNF681:NM_138286:exon4:c.C830T:p.T277I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00107596741567	0.0009	0.000399361	0.0014	9.636e-05	8.639e-05	0	0.0035	0.0022	0.0022	0	0.0012096	187	154602	rs138088158	0.0010	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0008	2.987e-05	0.0002	0.0023	0	0.0056	0	0.0009	0.0008	0	0.0013	0.0013	0.0012	0.0015	0.0019	0.0012	0.0011	0.0017	0.0016	9.624e-05	0	0.0001	0.0026	0	0.0052	0	0.0019	0.0005	0	0.006	0.61437	D	0.0	0.92824	D	0.949	0.53761	P	0.606	0.50970	P	.	.	.	.	0.994605	0.23482	N	2.025	0.55430	M	2.17	0.19020	T	-4.61	0.79060	D	0.14	0.13911	-1.0158	0.25078	T	0.071	0.29034	T	9	0.009814501	0.00220	T	0.001076	0.01239	T	0.071	0.20720	.	.	0.0551355673512	0.04727	0.0080079804797239	0.00765	0.0112892790473	0.01053	0.370846867561	0.20954	T	0.027167	0.19952	T	-0.229101	0.16767	T	-0.566864	0.15738	T	0.115723349805617	0.14007	T	0.0386961	0.00267	T	0.13940506	0.32203	0.14308095	0.34017	0.13940506	0.32203	0.14308095	0.34016	-5.699	0.43685	T	.	.	0.165	0.36315	B	.	.	1.182336	0.15731	12.06	0.95083951481465745	0.26138	0.03746	0.09049	N	AEFBCI	0.042898	0.06714	N	-0.473793841929336	0.22942	1.228538	-0.795540600905373	0.14605	0.7639358	2.55806468206487E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	1.51	-3.01	0.05132	1.301000	0.33052	.	.	0.240000	0.18237	0.946000	0.32893	0.000000	0.08366	0.011000	0.09372	0.0:0.2303:0.5394:0.2303	4.512	0.11321	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1480.33	39	chr19	23744720	.	G	A	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1198;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=0.935;QD=12.76;ReadPosRankSum=-0.502;SOR=0.682	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	18	0	1	0
chr19	23827519	23827519	C	T	exonic	RPSAP58	.	nonsynonymous SNV	RPSAP58:NM_001355283:exon4:c.C358T:p.R120W,RPSAP58:NM_001355287:exon5:c.C358T:p.R120W	.	11	1407	98	6	0	110	0.0376197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	.	0.00599042	0.0111	0.0008	0.0087	0	0.0015	0.0126	0.0126	0.0165	0.0009961	154	154602	rs200743636	0.0098	0.0100	0.0096	0.0101	0.0447	0.0097	0.0097	0.0396	0.0376	0.0019	0.0100	0.0266	5.039e-05	0.0035	0.0447	0.0096	0.0128	0.0150	0.0088	0.0089	0.0083	0.0094	0.0124	0.0085	0.0083	0.0117	0.0114	0.0019	0.0022	0.0122	0.0277	0.0004	0.0030	0.0340	0.0124	0.0161	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1373.81	33	chr19	23827519	.	C	T	1373.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=44.21;QD=34.35;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	18	1	0	0
chr19	23827938	23827938	T	G	exonic	RPSAP58	.	nonsynonymous SNV	RPSAP58:NM_001355283:exon4:c.T777G:p.I259M,RPSAP58:NM_001355287:exon5:c.T777G:p.I259M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00352997395971	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760234700	2.673e-05	1.481e-05	1.128e-05	4.067e-05	0.0003	1.745e-05	1.419e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	1.322e-05	1.314e-05	0	2.71e-05	0.0004	2.2e-06	8.2e-07	7.416e-05	3.075e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	268.38	6	chr19	23827938	.	T	G	268.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.174;DP=207;ExcessHet=0;FS=0;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.026;MQ=37.09;MQRankSum=-0.876;QD=16.77;ReadPosRankSum=-0.257;SOR=0.976	GT:AD:DP:GQ:PL	0/0:5,0:5:12:0,12,180	18	0	1	0
chr19	23933444	23933444	A	C	exonic	ZNF726	.	nonsynonymous SNV	ZNF726:NM_001244038:exon4:c.A1328C:p.H443P	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.00577239136333	.	0.000798722	0.0014	0.0001	0.0005	0	0.0002	0.0018	0.0011	0.0022	0.0012225	189	154602	rs147413616	0.0014	0.0014	0.0014	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0006	0	2.521e-05	0.0001	0.0012	0.0016	0.0009	0.0017	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0005	0	0	9.416e-05	0	0.0017	0.0009	0.0010	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.995	0.96723	H	-2.18	0.86722	D	-9.42	0.98394	D	0.545	0.57177	-0.2854	0.75393	T	0.546	0.83312	D	6	0.043185294	0.03141	T	0.005772	0.14982	T	0.399	0.71321	.	.	0.440705552886	0.43688	0.08717460043963202	0.08650	.	.	0.499027192593	0.38692	T	.	.	.	-0.1831	0.23276	T	-0.0490174	0.67090	D	0.224702542605646	0.21696	T	0.0331967	0.00358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.71480	P	.;.	.;.	2.688986	0.35092	19.81	0.93381099623030384	0.23130	0.84744	0.43832	D	AEFBCI	0.555410	0.56586	D	-0.111559715402916	0.36889	2.138448	-0.207937247619632	0.31250	1.766778	0.00151474126328039	0.08604	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	0.814	0.814	0.17897	6.491000	0.73556	.	.	0.264000	0.18430	0.999000	0.42656	0.057000	0.21958	0.016000	0.10718	1.0:0.0:0.0:0.0	5.434	0.15768	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1307.33	33	chr19	23933444	.	A	C	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=728;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.159;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr19	29610506	29610506	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon3:c.G158A:p.R53H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0279846080629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259772679	1.849e-05	1.915e-05	1.771e-05	1.928e-05	0.0002	1.266e-05	1.085e-05	8.914e-05	7.076e-05	2.989e-05	0	0	0	0	0	1.08e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.37037	T	0.032	0.20242	B	0.003	0.08700	B	0.000001	0.62929	D	0.100354	0.999993	0.81001	D	1.25	0.31749	L	0.92	0.44461	T	.	.	.	0.416	0.45615	-0.7447	0.58211	T	0.263	0.63448	T	9	0.1786815	0.32965	T	0.027985	0.50729	D	.	.	0.3	0.26683	0.537635407634	0.53415	0.32996781185946616	0.32909	0.17223584331	0.19399	0.349305212498	0.17820	T	0.031378	0.22016	T	-0.318295	0.07039	T	-0.490435	0.23345	T	0.442631214857101	0.30526	T	0.876612	0.58915	D	0.1224703	0.28779	0.11638584	0.28097	0.1224703	0.28779	0.11638584	0.28096	-5.96	0.45943	T	.	.	0.109	0.25689	B	.;.;.	.;.;.	2.702554	0.35308	19.86	0.99797729130301804	0.88283	0.94202	0.60423	D	AEFDBCI	0.694030	0.65316	D	0.00646317057664405	0.42149	2.53414	0.154119616535908	0.47362	2.967465	0.999999943155733	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.55	5.55	0.83298	5.202000	0.65004	3.377000	0.37975	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.294000	0.24357	0.0:0.0:1.0:0.0	18.850	0.92191	947	0.11584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	33	chr19	29610506	.	G	A	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.399;DP=705;ExcessHet=0;FS=1.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.301;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	18	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G,URI1:NM_003796:exon7:c.A593G:p.D198G	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.100000	0.000000	0.009146	0.015152	0.02632	777.33	33	chr19	30007545	.	A	G	777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.719;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1110	18	0	1	0
chr19	30444832	30444832	G	C	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon2:c.G1270C:p.A424P,ZNF536:NM_014717:exon2:c.G1270C:p.A424P,ZNF536:NM_001376110:exon3:c.G1270C:p.A424P,ZNF536:NM_001376111:exon3:c.G1270C:p.A424P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0411241634046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.064	0.50809	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.97	0.09915	T	-2.16	0.48850	N	0.918	0.92084	-1.1500	0.01025	T	0.063	0.26065	T	10	0.5899613	0.66324	D	0.041124	0.59757	D	0.397	0.71163	0.479	0.55823	0.263709349026	0.25991	0.7902625042852016	0.78978	2.12773366393	0.95105	0.772441267967	0.77790	T	0.031189	0.28549	T	0.173816	0.71473	D	0.0118988	0.71104	D	0.988329172134399	0.78670	D	0.967203	0.88094	D	0.5575797	0.70376	0.62898314	0.78362	0.5575797	0.70377	0.62898314	0.78363	-5.272	0.39665	T	.	.	0.521	0.65515	A	.;.	.;.	4.264749	0.64845	24.8	0.99632047899128851	0.76081	0.98926	0.88723	D	AEFDBI	0.970764	0.99296	D	0.680110334787486	0.78329	6.849665	0.698259660988615	0.82247	7.719829	0.999999996544198	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.44	5.44	0.79348	8.112000	0.89421	8.631000	0.77853	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.25	0.93908	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	34	chr19	30444832	.	G	C	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=804;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.24;SOR=0.699	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1475	18	0	1	0
chr19	30548873	30548873	A	G	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon4:c.A3254G:p.K1085R,ZNF536:NM_014717:exon4:c.A3254G:p.K1085R,ZNF536:NM_001376110:exon5:c.A3254G:p.K1085R,ZNF536:NM_001376111:exon5:c.A3254G:p.K1085R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00288608258775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.1	0.38742	T	0.007	0.14184	B	0.005	0.11217	B	0.047248	0.23362	N	0.495214	0.72842	0.33692	D	1.1	0.28011	L	3.0	0.09167	T	-0.47	0.15178	N	0.296	0.33469	-1.0670	0.10085	T	0.021	0.08963	T	10	0.12607107	0.23965	T	0.002886	0.06074	T	0.076	0.22200	0.185	0.09388	0.102598925029	0.09809	0.22608861611101413	0.22523	0.520643178341	0.49859	0.415079802275	0.27159	T	0.033002	0.22729	T	-0.330431	0.06080	T	-0.712417	0.05172	T	0.254855990409851	0.23089	T	0.731927	0.34732	T	0.035947397	0.04328	0.05754498	0.10480	0.035947397	0.04328	0.05754498	0.10479	-4.544	0.31460	T	.	.	0.077	0.06250	B	.	.	1.556934	0.19948	14.52	0.93237670832894792	0.22921	0.95800	0.66207	D	AEFBI	0.152402	0.27707	N	-0.542389263509041	0.20722	1.094546	-0.432036825418145	0.24062	1.315627	1.22724855646173E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.74	3.64	0.40864	3.272000	0.51319	2.925000	0.35585	-0.050000	0.17177	1.000000	0.71638	0.999000	0.35428	0.003000	0.05239	0.8009:0.1315:0.0676:0.0	8.514	0.32398	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2088.33	42	chr19	30548873	.	A	G	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=818;ExcessHet=0;FS=11.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.875;SOR=1.173	GT:AD:DP:GQ:PL	0/1:77,75:152:99:2102,0,2054	18	0	1	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.02632	2204.33	39	chr19	31278387	.	T	C	2204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.874;DP=1493;ExcessHet=0;FS=6.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.414;SOR=0.822	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	31278852	31278852	G	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C941G:p.A314G	.	.	.	.	.	.	.	.	.	.	.	3512124	TSHZ3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.097	0.018904063848	.	0.000798722	0.0003	0	0	0	0	0	0	0.0023	0.0002717	42	154602	rs528782093	0.0001	0.0001	6.398e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0002	0	0.0001	0.0019	5.256e-05	5.25e-05	1.286e-05	9.405e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.01	0.56456	D	0.044	0.49663	D	0.083	0.24734	B	0.057	0.26280	B	0.000007	0.62929	D	0.108055	1	0.81001	D	2.215	0.62545	M	2.66	0.12575	T	-1.0	0.26422	N	0.515	0.54584	-1.1075	0.03293	T	0.039	0.16634	T	10	0.014172733	0.00298	T	0.018904	0.41110	T	0.097	0.27909	0.232	0.16005	0.149567049428	0.14543	0.5191020497826752	0.51833	0.456578802187	0.45305	0.643159747124	0.59014	T	0.154139	0.49530	T	-0.466575	0.00894	T	-0.449146	0.27792	T	0.214196332080509	0.21170	T	0.885811	0.61165	D	0.2014935	0.42161	0.1909831	0.42532	0.2014935	0.42161	0.1909831	0.42531	-8.308	0.63149	D	.	.	0.108	0.20625	B	.	.	4.057367	0.60189	24.2	0.99404336166527296	0.62981	0.99359	0.94992	D	AEFBI	0.935095	0.92944	D	0.109103366629041	0.46887	2.922306	0.255861589188754	0.52984	3.469694	0.999999997361386	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	9.602000	0.97623	11.859000	0.98275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.440000	0.27671	0.0:0.0:1.0:0.0	19.312	0.94184	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3370.33	39	chr19	31278852	.	G	C	3370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.94;DP=1618;ExcessHet=0;FS=2.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.16;SOR=0.544	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	32383003	32383003	G	A	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.G2782A:p.D928N,ZNF507:NM_001136156:exon7:c.G2782A:p.D928N	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0376712133515	.	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs767864955	3.626e-05	3.625e-05	3.267e-05	3.988e-05	0.0024	2.828e-05	2.565e-05	0.0015	0.0012	0	0	0	0	0	0.0024	2.788e-05	3.311e-05	6.956e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.03	0.45393	D	0.021	0.58089	D	0.961	0.55431	D	0.721	0.54900	P	0.000000	0.84330	D	0.089652	0.999949	0.51968	D	0.895	0.22405	L	-0.97	0.75670	T	-0.45	0.16187	N	0.285	0.35301	-0.5629	0.66293	T	0.362	0.72361	T	10	0.2453978	0.41786	T	0.037671	0.57756	D	0.301	0.62179	0.251	0.18912	0.295226631146	0.29124	0.32810213965244606	0.32723	0.351295794164	0.36970	0.630541861057	0.57222	T	0.038955	0.25023	T	-0.173378	0.24724	T	-0.389968	0.34554	T	0.286759559677516	0.24454	T	0.922208	0.71716	D	0.15303363	0.34708	0.14046194	0.33481	0.15303363	0.34708	0.14046194	0.33480	-4.065	0.24772	T	.	.	0.107	0.34449	B	.;.;.	.;.;.	4.832761	0.78829	27.0	0.99930002926361106	0.99334	0.99328	0.94563	D	AEFGBI	0.870397	0.79135	D	0.593185063191526	0.72749	5.854875	0.685054279031526	0.81244	7.481565	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.576000	0.97351	11.867000	0.98473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.321	0.98668	844	0.36711	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1385.33	40	chr19	32383003	.	G	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=820;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.475;SOR=0.841	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr19	32692468	32692468	C	G	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon1:c.C508G:p.R170G	.	.	.	.	.	.	.	.	.	.	.	3573579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.118251154757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756202844	1.791e-05	1.984e-05	1.701e-05	1.882e-05	2.216e-05	1.229e-05	1.039e-05	1.499e-05	1.259e-05	0	0	0	0	0	0	2.216e-05	1.728e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.101	0.38596	T	0.837	0.46346	P	0.589	0.50435	P	0.820830	0.09179	U	0.905499	0.999872	0.19925	N	2.485	0.72352	M	3.18	0.07478	T	-5.41	0.85176	D	0.204	0.22614	-1.0444	0.16000	T	0.043	0.18410	T	10	0.3061692	0.48128	T	0.118251	0.79825	D	0.150	0.39571	0.488	0.57257	0.42828666871	0.42450	0.7309116730531675	0.73036	0.42360814653	0.42814	0.87671649456	0.93515	D	0.395951	0.75471	T	-0.269121	0.11855	T	-0.439077	0.28912	T	0.855384230613708	0.50636	D	0.580842	0.21027	T	0.31971803	0.54616	0.3020808	0.56240	0.31971803	0.54616	0.3020808	0.56239	-5.292	0.39864	T	.	.	0.131	0.28232	B	.	.	3.038197	0.40726	21.2	0.99684578443279648	0.79507	0.56943	0.30247	D	AEFDBHCIJ	0.209792	0.33575	N	0.00562774620637688	0.42111	2.531164	-0.131750111029329	0.34118	1.959015	0.999999999941063	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.8	0.968	0.18799	1.739000	0.37842	2.911000	0.35508	0.446000	0.21189	0.910000	0.31679	0.994000	0.32194	0.005000	0.06747	0.4154:0.4576:0.1269:0.0	8.521	0.32436	866	0.32446	NUDIX hydrolase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	40	chr19	32692468	.	C	G	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.815;DP=756;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.223;SOR=1.111	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1267	18	0	1	0
chr19	32711850	32711850	C	T	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon3:c.C1021T:p.R341W	.	.	.	.	.	.	.	.	.	.	.	2768432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.466	0.166230006598	8.3e-05	.	4.141e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs371717452	6.913e-05	6.909e-05	7.9e-05	5.916e-05	8.188e-05	5.783e-05	5.394e-05	6.788e-05	6.287e-05	5.977e-05	0	0	0	0	0	8.188e-05	1.657e-05	8.117e-05	7.228e-05	7.219e-05	6.426e-05	8.067e-05	0.0002	3.971e-05	3.127e-05	3.761e-05	2.575e-05	9.632e-05	0	0	0	0	0	0	8.819e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	U	0.000000	1	0.81001	D	2.25	0.63811	M	0.05	0.61923	T	-6.7	0.92476	D	0.856	0.85238	-0.4320	0.71001	T	0.365	0.72605	T	10	0.9665259	0.96147	D	0.16623	0.84490	D	0.466	0.76156	.	.	0.561485227407	0.55810	0.9006485000465323	0.90036	0.44475369752	0.44375	0.49038079381	0.37492	T	0.610648	0.87655	D	-0.0165972	0.49336	T	-0.00193805	0.70211	D	0.944816052913666	0.62137	D	0.714629	0.32694	T	0.52205867	0.68378	0.22822568	0.47857	0.52205867	0.68379	0.22822568	0.47856	-12.758	0.88341	D	.	.	0.351	0.56664	A	.	.	4.048385	0.59987	24.2	0.99810308763996836	0.89442	0.59555	0.30948	D	AEFDBI	0.218813	0.34377	N	0.127419404730906	0.47743	2.99594	-0.00833390694703851	0.39338	2.330817	1.26761724938595E-4	0.05386	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.59	2.19	0.26890	1.437000	0.34601	2.749000	0.34521	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.2265:0.5768:0.0:0.1967	4.085	0.09420	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	34	chr19	32711850	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.67;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	18	0	1	0
chr19	32996166	32996166	G	A	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon11:c.C1280T:p.A427V	.	416	1101	5	0	0	5	0.00226552	.	.	.	2388944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00594448843284	.	.	0.0002	0	0.0002	0	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs139766778	0.0001	0.0001	0.0001	0.0002	0.0061	0.0001	0.0001	0.0045	0.0039	0.0001	0.0003	0	0	1.875e-05	0.0061	0.0001	0.0002	0.0003	9.849e-05	9.842e-05	0.0001	8.056e-05	0.0002	6.002e-05	4.876e-05	5.286e-05	3.339e-05	2.406e-05	0	0.0002	0	0	0	0.0102	0.0001	0	0.0002	0.184	0.21634	T	0.085	0.41074	T	0.005	0.12996	B	0.009	0.14300	B	0.013872	0.28706	N	0.418879	0.905536	0.27615	N	2.215	0.62545	M	2.16	0.19166	T	-1.1	0.28497	N	0.133	0.12913	-1.0432	0.16354	T	0.045	0.19234	T	10	0.04398924	0.03307	T	0.005944	0.15490	T	0.019	0.03383	.	.	0.251116650651	0.24721	0.22848835657659025	0.22763	0.343453448918	0.36273	0.260378658772	0.04935	T	0.067602	0.33244	T	-0.310146	0.07735	T	-0.683279	0.06785	T	0.0310140974659691	0.02148	T	0.727127	0.34152	T	0.07723123	0.17516	0.088110395	0.20524	0.07723123	0.17515	0.088110395	0.20524	-3.77	0.20357	T	.	.	0.102	0.17785	B	.	.	1.983681	0.25203	16.68	0.91224028201092999	0.20481	0.65544	0.32773	D	AEFDBHI	0.162081	0.28822	N	-0.487404883143536	0.22492	1.201421	-0.404978197767234	0.24850	1.363168	0.00650907335597471	0.11235	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.86	2.6	0.30173	1.294000	0.32971	4.433000	0.43357	-0.866000	0.02592	0.492000	0.26894	1.000000	0.68203	0.544000	0.30032	0.2139:0.2178:0.5683:0.0	5.339	0.15280	693	0.58582	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	752.33	49	chr19	32996166	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.332;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=1.69;QD=7.17;ReadPosRankSum=-1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	18	0	1	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.02632	121.33	112	chr19	32999594	.	C	T	121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.378;DP=1964;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=52.64;MQRankSum=-3.113;QD=1.43;ReadPosRankSum=-1.597;SOR=1.27	GT:AD:DP:GQ:PL	0/0:130,0:130:99:0,120,1800	18	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/0:196,24:220:63:0,63,5904	13	0	6	0
chr19	33097816	33097816	C	A	exonic	GPATCH1	.	nonsynonymous SNV	GPATCH1:NM_018025:exon8:c.C914A:p.S305Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0367510903186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	2.5	0.14408	T	-5.25	0.84035	D	0.785	0.78167	-0.9567	0.39789	T	0.102	0.37718	T	10	0.8206142	0.81268	D	0.036751	0.57186	D	0.363	0.68319	0.341	0.33302	0.37097340754	0.36704	0.6336299458085006	0.63296	0.636598720207	0.57434	0.691131949425	0.65869	T	0.375631	0.73919	T	0.238191	0.77491	D	0.104368	0.77198	D	0.996365666389465	0.89195	D	0.905309	0.66640	D	0.87193614	0.89015	0.84929025	0.91457	0.87193614	0.89017	0.84929025	0.91458	-13.422	0.91026	D	.	.	0.338	0.55740	B	.	.	4.933977	0.81364	27.5	0.99574549317079963	0.72621	0.99501	0.96794	D	AEFGBI	0.621698	0.60629	D	0.645977695378553	0.76110	6.426195	0.643791456775378	0.78148	6.818563	0.999999999999999	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	5.594000	0.67248	5.833000	0.50181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.854	0.92212	680	0.59965	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	36	chr19	33097816	.	C	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=723;ExcessHet=0;FS=10.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.529;SOR=1.226	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1215	18	0	1	0
chr19	33160480	33160480	G	A	exonic	WDR88	.	nonsynonymous SNV	WDR88:NM_173479:exon8:c.G1064A:p.R355Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00798228532373	0.0006	0.000599042	0.0007	9.61e-05	0.0003	0.0001	0.0006	0.0007	0	0.0019	0.0007374	114	154602	rs150713418	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	5.974e-05	0.0006	0	5.038e-05	0.0007	0.0002	0.0007	0.0005	0.0015	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0007	0.0006	0.0001	0	0.0009	0	0.0002	0.0003	0	0.0008	0.0019	0.0014	0.509	0.10020	T	0.669	0.19421	T	0.119	0.26641	B	0.035	0.22741	B	0.140756	0.02884	N	1.826510	0.998469	0.22137	N	0.18	0.09070	N	1.08	0.39401	T	-0.97	0.25770	N	0.181	0.19593	-1.0628	0.11069	T	0.057	0.23791	T	10	0.009299457	0.00210	T	0.007982	0.21162	T	0.075	0.21907	.	.	0.223146558224	0.21909	0.1259960003958346	0.12525	0.456533851146	0.45297	0.251663029194	0.03945	T	0.001403	0.00865	T	-0.571829	0.00216	T	-0.618796	0.11280	T	0.031918871010813	0.02294	T	0.709529	0.32279	T	0.041946042	0.06271	0.036085404	0.02986	0.041946042	0.06271	0.036085404	0.02986	-4.871	0.43210	T	.	.	0.079	0.11076	B	.;.	.;.	2.287579	0.29260	18.06	0.98522928695173639	0.42483	0.40507	0.26452	N	ALL	0.073842	0.14783	N	-0.584473799846447	0.19415	1.015977	-0.438841001311828	0.23866	1.303829	0.999999997901756	0.74766	0.487112	0.14033	0	0.518115	0.08659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.41	-0.547	0.11244	0.495000	0.22191	0.008000	0.13396	-0.167000	0.11441	1.000000	0.71638	0.570000	0.25566	0.982000	0.59238	0.4382:0.0:0.42:0.1418	4.859	0.12936	675	0.60470	.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1776.33	33	chr19	33160480	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=785;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.104;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	18	0	1	0
chr19	33206250	33206250	C	T	exonic	LRP3	.	nonsynonymous SNV	LRP3:NM_002333:exon5:c.C1480T:p.P494S	.	.	.	.	.	.	.	.	.	.	.	2205555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.754	0.458710343378	.	.	1.996e-05	0	0	0	0	3.599e-05	0	0	3.84e-05	1	26028	rs761159779	1.799e-05	2.805e-05	2.061e-05	1.534e-05	2.267e-05	1.252e-05	1.064e-05	1.387e-05	1.158e-05	0	2.267e-05	0	0	2.13e-05	0	2.082e-05	1.674e-05	0	1.971e-05	1.97e-05	2.568e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.123	0.27544	T	0.094	0.39645	T	0.78	0.44271	P	0.335	0.42239	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-2.4	0.88455	D	-5.11	0.83092	D	0.811	0.80669	0.586	0.91718	D	0.750	0.91493	D	10	0.85392857	0.84581	D	0.45871	0.94474	D	0.754	0.91583	0.586	0.71371	0.936766513862	0.93611	0.7380320139644899	0.73748	0.487953927305	0.47613	0.839656114578	0.88043	D	0.201515	0.55942	T	0.25523	0.79086	D	0.128844	0.78815	D	0.760824501514435	0.43899	D	0.976602	0.91883	D	0.37810272	0.59179	0.376	0.62755	0.37810272	0.59180	0.376	0.62754	-12.373	0.86620	D	.	.	0.938	0.85731	P	.	.	4.681655	0.74923	26.2	0.99890210042200001	0.96436	0.99722	0.98964	D	AEFDGBI	0.961746	0.98309	D	0.49246871063903	0.66649	4.977489	0.522202278262713	0.69485	5.367369	0.999999999977273	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	5.35	5.35	0.76297	7.859000	0.85380	7.688000	0.65646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	18.041	0.89243	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2010.33	42	chr19	33206250	.	C	T	2010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=880;ExcessHet=0;FS=6.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.418;SOR=1.205	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr19	33212889	33212889	G	C	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon3:c.C470G:p.P157R	.	409	1108	5	0	0	5	0.00225124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.197610943606	.	.	1.668e-05	0	0	0	0	1.515e-05	0	6.086e-05	1.29e-05	2	154602	rs770544805	9.577e-06	9.577e-06	8.167e-06	1.1e-05	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-06	0	4.637e-05	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.365	0.91266	M	-2.5	0.89219	D	-8.77	0.97742	D	0.894	0.89353	0.894	0.95594	D	0.836	0.94503	D	10	0.9651139	0.95979	D	0.197611	0.86547	D	0.834	0.94765	0.724	0.85850	0.955352881115	0.95488	0.841819425768244	0.84141	1.20388962658	0.80625	0.608378946781	0.54087	T	0.824741	0.95752	D	0.364	0.87554	D	0.381939	0.91500	D	0.997055649757385	0.90665	D	0.882912	0.60466	D	0.8612521	0.88182	0.8157319	0.89266	0.8612521	0.88183	0.8157319	0.89266	-12.796	0.88505	D	.	.	0.602	0.68966	P	.	.	4.301296	0.65672	24.9	0.99798811488470973	0.88372	0.99731	0.99037	D	AEFDBI	0.942127	0.94631	D	0.690675838724763	0.79022	6.990643	0.556326537904384	0.71840	5.716355	0.999999999548795	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	8.097000	0.89373	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	15.831	0.78526	557	0.71576	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1303.33	41	chr19	33212889	.	G	C	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.846;DP=824;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.208;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr19	34196655	34196655	T	C	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001114093:exon3:c.T307C:p.S103P,LSM14A:NM_001384420:exon3:c.T307C:p.S103P,LSM14A:NM_001384421:exon3:c.T307C:p.S103P,LSM14A:NM_001384423:exon3:c.T307C:p.S103P,LSM14A:NM_001384424:exon3:c.T307C:p.S103P,LSM14A:NM_001384425:exon3:c.T307C:p.S103P,LSM14A:NM_001384426:exon3:c.T307C:p.S103P,LSM14A:NM_001384427:exon3:c.T307C:p.S103P,LSM14A:NM_001384428:exon3:c.T307C:p.S103P,LSM14A:NM_001384429:exon3:c.T307C:p.S103P,LSM14A:NM_001384430:exon3:c.T25C:p.S9P,LSM14A:NM_001384435:exon3:c.T307C:p.S103P,LSM14A:NM_001384436:exon3:c.T307C:p.S103P,LSM14A:NM_015578:exon3:c.T307C:p.S103P	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0039	0.00299521	0.0037	0.0002	0.0018	0.0001	0.0009	0.0040	0.0022	0.0088	0.0037968	587	154602	rs149170773	0.0050	0.0050	0.0049	0.0050	0.0095	0.0049	0.0048	0.0090	0.0088	0.0007	0.0013	0.0034	7.58e-05	0.0007	0.0044	0.0053	0.0047	0.0095	0.0033	0.0033	0.0034	0.0032	0.0109	0.0031	0.0030	0.0085	0.0077	0.0009	0.0022	0.0016	0.0029	0.0002	0.0007	0	0.0053	0.0024	0.0109	0.075	0.35165	T	0.318	0.22223	T	0.006	0.61912	B	0.009	0.70027	B	0.000060	0.53742	D	0.171191	0.999982	0.58761	D	2.24	0.63355	M	1.56	0.46777	T	-2.07	0.51157	N	0.368	0.40963	-0.9647	0.38270	T	0.123	0.42505	T	10	0.008370787	0.00190	T	.	.	.	0.089	0.25827	.	.	0.488687234069	0.48499	0.45877763395615406	0.45795	1.51235230355	0.87267	0.583367943764	0.50560	T	0.012023	0.12415	T	-0.471249	0.00835	T	-0.442302	0.28552	T	0.0700592920184135	0.08660	T	0.887811	0.61653	D	0.3325327	0.55677	0.46197814	0.68760	0.3325327	0.55677	0.46197814	0.68760	-4.892	0.40003	T	.	.	0.121	0.30765	B	.;.;.;.	.;.;.;.	3.321970	0.45692	22.2	0.99853812900237782	0.93279	0.90422	0.51585	D	AEFGBI	0.546051	0.56031	D	0.100066636690499	0.46465	2.886484	0.184242584179069	0.48982	3.107181	0.999456602423443	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.477000	0.35039	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.324	0.73856	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005061	0.000000	0.000000	0.008824	0.000000	0.008621	0.009434	0.011364	0.05263	2255.83	43	chr19	34196655	.	T	C	2255.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=835;ExcessHet=0.119;FS=0.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.7;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1088	17	0	2	0
chr19	34300591	34300591	G	A	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon2:c.G118A:p.A40T	.	430	1048	43	1	0	45	0.0210182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0015	0.00878594	0.0065	0.0003	0.0014	0	0.0018	0.0032	0.0100	0.0325	0.0001153	3	26028	rs151200468	0.0041	0.0041	0.0030	0.0052	0.0322	0.0040	0.0040	0.0312	0.0308	0.0003	0.0013	0.0104	7.557e-05	0.0018	0.0113	0.0021	0.0051	0.0322	0.0031	0.0031	0.0023	0.0039	0.0381	0.0028	0.0027	0.0336	0.0319	0.0005	0	0.0025	0.0121	0	0.0018	0	0.0022	0.0066	0.0381	0.768	0.03402	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000035	0.55875	N	0.159324	0.904177	0.36245	D	-0.46	0.02758	N	.	.	.	1.2	0.01078	N	0.055	0.02658	-1.0783	0.07681	T	0.044	0.19029	T	9	0.003199309	0.00054	T	.	.	.	0.172	0.43662	.	.	0.043077524339	0.03247	0.19238402303310173	0.19156	0.227004266067	0.25252	0.530864715576	0.43156	T	0.018492	0.14898	T	-0.611079	0.00125	T	-0.626174	0.10706	T	0.00255174078607371	0.00027	T	0.824218	0.48580	T	0.0382888	0.05073	0.07576153	0.16713	0.0382888	0.05073	0.07576153	0.16713	-3.316	0.13945	T	.	.	0.060	0.00904	B	.	.	1.931464	0.24533	16.43	0.83865513919071555	0.14963	0.80372	0.40027	D	AEFDGBI	0.126563	0.24355	N	-0.448880095827538	0.23778	1.279312	-0.243438504701772	0.29997	1.685272	0.900097373006502	0.26067	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	1.48	0.21900	3.069000	0.49724	5.098000	0.47411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.444:0.0:0.556:0.0	7.279	0.25476	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.005051	0.005435	0.008772	0.000000	0.008621	0.009146	0.045455	0.02632	1521.33	35	chr19	34300591	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.603;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	18	0	1	0
chr19	34404971	34404971	G	C	exonic	PDCD2L	.	nonsynonymous SNV	PDCD2L:NM_001353433:exon3:c.G317C:p.R106T,PDCD2L:NM_032346:exon3:c.G317C:p.R106T	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00169668906844	7.7e-05	.	2.491e-05	0	0	0	0	4.535e-05	0	0	1.94e-05	3	154602	rs375361877	4.994e-05	4.994e-05	6.126e-05	3.85e-05	0.0002	4.059e-05	3.734e-05	4.786e-05	4.365e-05	0	6.708e-05	0	0	0	0.0002	5.935e-05	4.967e-05	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.252	0.17014	T	0.409	0.14588	T	0.0	0.02946	B	0.001	0.04355	B	0.974268	0.07799	N	1.010340	1	0.08975	N	-1.245	0.00777	N	.	.	.	-0.17	0.09627	N	0.168	0.17828	-0.9869	0.33371	T	0.032	0.13898	T	9	0.02948898	0.01075	T	0.001697	0.02830	T	0.015	0.02232	.	.	0.0762999501168	0.06990	0.2488217158637332	0.24796	0.154127611139	0.17397	0.28366997838	0.08009	T	0.008397	0.07715	T	-0.49635	0.00599	T	-0.753106	0.03367	T	0.0477902963757515	0.05106	T	0.49605	0.15399	T	0.05158268	0.09493	0.058108505	0.10681	0.05158268	0.09492	0.058108505	0.10681	-3.211	0.12615	T	.	.	0.061	0.02173	B	.;.	.;.	0.427897	0.07985	4.698	0.73108108563569674	0.10209	0.04607	0.10264	N	AEFDGBCI	0.068959	0.13627	N	-1.29324881584234	0.03756	0.1683448	-1.18293733283056	0.06194	0.297404	0.999999957110464	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.29	3.17	0.35510	0.063000	0.14285	-0.304000	0.10092	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.448000	0.27851	0.7534:0.1611:0.0854:0.0	6.199	0.19777	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1394.81	52	chr19	34404971	.	G	C	1394.81	.	AC=2;AF=0.053;AN=38;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=26.82;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	1	0	0
chr19	34684157	34684157	C	T	exonic	ZNF302	.	nonsynonymous SNV	ZNF302:NM_001289188:exon5:c.C383T:p.A128V,ZNF302:NM_001289189:exon5:c.C383T:p.A128V,ZNF302:NM_001289190:exon5:c.C380T:p.A127V,ZNF302:NM_001289191:exon5:c.C380T:p.A127V,ZNF302:NM_001289192:exon5:c.C380T:p.A127V,ZNF302:NM_018675:exon5:c.C380T:p.A127V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000543839845732	.	0.000199681	7.343e-05	0	0.0015	0	0	0	0	0	3.23e-05	5	154602	rs554061402	4.119e-05	2.97e-05	4.562e-05	3.68e-05	0.0008	2.889e-05	2.497e-05	0.0003	0.0002	0	0.0006	0	0	0	0.0008	2.788e-05	0.0001	0	4.675e-05	5.126e-05	6.799e-05	2.078e-05	0.0004	1.767e-05	1.192e-05	0.0001	6.08e-05	3.706e-05	0	0.0004	0	0	0	0	0	0.0007	0	0.0	0.91255	D	0.4	0.15010	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.49	0.00930	T	-1.11	0.28703	N	0.04	0.01347	-0.9180	0.45824	T	0.002	0.00646	T	7	0.011526525	0.00251	T	5.44E-4	0.00196	T	0.018	0.03083	0.3	0.26683	0.0954503805726	0.09146	.	.	.	.	.	.	.	0.019923	0.18839	T	-0.496352	0.00599	T	-0.576108	0.14894	T	0.0315527425861971	0.02234	T	0.368163	0.08910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.49343	B	.;.;.;.	.;.;.;.	0.418774	0.07896	4.598	0.085456667192201824	0.00069	0.00145	0.00883	N	AEFBHI	0.018158	0.00529	N	-1.23054469079839	0.04563	0.2061751	-1.360503884253	0.03683	0.1723336	0.930169597742935	0.26997	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	0.967	-0.126	0.12855	0.593000	0.23700	0.306000	0.17032	-0.664000	0.04342	0.001000	0.13787	0.057000	0.21958	0.001000	0.02609	0.0:0.3138:0.0:0.6862	2.925	0.05428	484	0.77165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	279.59	21	chr19	34684157	.	C	T	279.59	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.282;DP=556;ExcessHet=0;FS=0;InbreedingCoeff=-0.0731;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.51;SOR=0.446	GT:AD:DP:GQ:PL	0/0:23,0:23:39:0,39,585	15	0	1	3
chr19	34684172	34684203	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	-	exonic	ZNF302	.	nonframeshift deletion	ZNF302:NM_001289188:exon5:c.398_429del:p.*133*,ZNF302:NM_001289189:exon5:c.398_429del:p.*133*,ZNF302:NM_001289190:exon5:c.395_426del:p.*132*,ZNF302:NM_001289191:exon5:c.395_426del:p.*132*,ZNF302:NM_001289192:exon5:c.395_426del:p.*132*,ZNF302:NM_018675:exon5:c.395_426del:p.*132*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131	0.0172	0.0043	0.0608	0.0093	0.0093	0.0191	0.0141	0.0001153	3	26028	rs757903161	0.0076	0.0056	0.0071	0.0082	0.0717	0.0075	0.0074	0.0680	0.0665	0.0188	0.0038	0.0058	0.0717	0.0058	0.0112	0.0049	0.0125	0.0214	0.0113	0.0066	0.0102	0.0127	0.1199	0.0103	0.0100	0.1041	0.0981	0.0059	0	0.0138	0.0013	0.1199	0.0027	0	0.0052	0.0182	0.0327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1627.07	.	chr19	34684171	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	1627.07	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.65;DP=266;ExcessHet=0;FS=0;InbreedingCoeff=0.28;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.21;ReadPosRankSum=0.715;SOR=0.848	GT:AD:DP:GQ:PL	0/0:9,0:9:6:0,6,90	6	0	2	11
chr19	34958902	34958902	A	C	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.T953G:p.F318C	.	427	1091	4	0	0	4	0.00182983	.	.	.	3361663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00526289881767	7.7e-05	0.000199681	5.809e-05	0	8.724e-05	0	0	3.021e-05	0	0.0002	5.17e-05	8	154602	rs368499937	3.695e-05	3.694e-05	3.131e-05	4.264e-05	0.0003	2.894e-05	2.593e-05	0.0002	0.0001	0	0.0001	7.653e-05	0	0	0.0003	9.894e-06	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0013	0.0001	9.696e-05	0.0009	0.0007	4.812e-05	0	0.0013	0.0003	0	0	0	1.47e-05	0	0.0002	0.125	0.27310	T	0.215	0.26306	T	0.962	0.55554	D	0.615	0.51231	P	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.23	0.18083	T	-1.43	0.35194	N	0.163	0.17140	-1.0316	0.19937	T	0.025	0.10777	T	9	0.021185994	0.00502	T	0.005263	0.13433	T	0.074	0.21613	.	.	0.282179105231	0.27821	0.12048386843120623	0.11975	0.781653008177	0.65330	0.479204952717	0.35947	T	0.004166	0.05589	T	-0.415249	0.01835	T	-0.53806	0.18487	T	0.0842445810663856	0.10520	T	0.111689	0.00843	T	0.12362726	0.29024	0.10979921	0.26466	0.12362726	0.29024	0.10979921	0.26466	-5.7	0.43694	T	.	.	0.092	0.14247	B	.;.	.;.	2.609784	0.33897	19.47	0.95332825637285201	0.26695	0.00030	0.00276	N	AEBHCI	0.044069	0.07044	N	-0.626455423589744	0.18153	0.9401451	-0.782945194500487	0.14913	0.7817144	0.0703425990020304	0.15524	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.84	0.72	0.17368	-0.302000	0.08259	-5.225000	0.01799	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.5723:0.0:0.4277:0.0	5.496	0.16093	309	0.87553	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1606.33	165	chr19	34958902	.	A	C	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.612;DP=1978;ExcessHet=0;FS=4.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.831;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1023	424	67	8	566	0.214286	.	.	.	142703	not_provided|not_specified|Brugada_syndrome_5	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	18813.2	37	chr19	35034040	.	G	A	18813.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.055;DP=1634;ExcessHet=5.3738;FS=0.53;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.293;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,56:144:99:0|1:35034035_C_A:2046,0,3506:35034035	17	0	2	0
chr19	35039667	35039667	A	T	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon5:c.A623T:p.K208I,SCN1B:NM_001321605:exon5:c.A524T:p.K175I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	469648	SCN1B-related_disorder|Brugada_syndrome_5|Cardiovascular_phenotype	.|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.873	0.763920738291	.	.	2.474e-05	0	8.658e-05	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs780958012	1.231e-05	1.231e-05	1.089e-05	1.375e-05	3.478e-05	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	1.079e-05	3.311e-05	3.478e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.325	0.66631	M	-5.52	0.99165	D	-5.02	0.82511	D	0.712	0.71498	1.099	0.99623	D	0.967	0.98941	D	10	0.8525318	0.84436	D	0.763921	0.98128	D	0.873	0.96207	0.236	0.16608	0.994106168766	0.99404	.	.	.	.	.	.	.	0.575322	0.86006	D	0.166846	0.70834	D	0.183414	0.82191	D	0.973451256752014	0.70103	D	0.950105	0.82627	D	0.73405915	0.79954	0.5642824	0.74783	0.8289049	0.85828	0.6332163	0.78596	-6.845	0.52893	T	.	.	0.986	0.93267	P	.;.;.;.	.;.;.;.	5.416669	0.90641	31	0.99518361105522901	0.69100	0.97832	0.77462	D	AEFDBCI	0.932273	0.92238	D	0.752612657934995	0.83076	7.923259	0.709238551080616	0.83078	7.928864	0.999999999708013	0.74766	0.706298	0.61202	0	0.626922	0.53725	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	8.346000	0.89964	11.081000	0.85750	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	11.015	0.46901	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1826.33	35	chr19	35039667	.	A	T	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.491;DP=851;ExcessHet=0;FS=1.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.694;SOR=0.547	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr19	35131987	35131987	G	A	exonic	LGI4	.	nonsynonymous SNV	LGI4:NM_139284:exon4:c.C370T:p.R124C	.	425	1095	2	0	0	2	0.000912409	.	.	.	3452783	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.264991910507	7.7e-05	.	0.0002	0	0.0011	0	0	0.0003	0	0	7.76e-05	12	154602	rs144343503	3.689e-05	4.309e-05	4.002e-05	3.371e-05	0.0002	2.878e-05	2.61e-05	7.975e-05	5.641e-05	0	0.0002	0	0	0	0	3.457e-05	0.0001	0	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.417e-05	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.912	0.75477	D	0.005197	0.33015	N	0.121454	0.956287	0.81001	D	1.695	0.43389	L	0.37	0.57729	T	-4.99	0.84811	D	0.399	0.53006	-0.4393	0.70753	T	0.286	0.65753	T	10	0.27918503	0.45490	T	0.264992	0.89657	D	0.290	0.60924	.	.	0.782319092378	0.78031	0.5570776603442104	0.55634	1.10600927225	0.77897	0.626669943333	0.56672	T	0.523841	0.83397	D	0.00226009	0.51966	T	-0.23453	0.51332	T	0.522031164816592	0.33440	D	0.959004	0.93547	D	0.3401699	0.56293	0.3342145	0.59249	0.3401699	0.56294	0.3342145	0.59248	-10.101	0.74514	D	0.2741140177909693	0.36827	0.428	0.63205	A	.;.;.	.;.;.	5.937480	0.94120	33	0.99916451938608886	0.98449	0.93609	0.58687	D	AEFBI	0.521358	0.54583	D	0.403383858660083	0.61608	4.364238	0.306976894255624	0.55947	3.757777	0.999656488843586	0.41424	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.19	3.03	0.34070	2.460000	0.44689	9.382000	0.80522	0.604000	0.46097	0.986000	0.36153	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7033:0.2967	10.105	0.41703	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1914.33	41	chr19	35131987	.	G	A	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=882;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.622;SOR=0.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	35299590	35299590	C	T	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	424	1080	18	0	0	18	0.00826446	.	.	.	411594	Hereditary_spastic_paraplegia_75|Hereditary_spastic_paraplegia|not_provided|MAG-related_disorder	MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.370	0.317900383162	0.0037	0.00239617	0.0044	0.0016	0.0022	0.0001	0.0011	0.0058	0.0061	0.0060	0.0042173	652	154602	rs144553163	0.0054	0.0055	0.0053	0.0055	0.0063	0.0053	0.0053	0.0062	0.0062	0.0011	0.0019	0.0003	0	0.0010	0.0049	0.0063	0.0042	0.0051	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0065	0.0063	0.0014	0	0.0022	0.0003	0	0.0008	0.0034	0.0070	0.0005	0.0048	0.071	0.39575	T	0.101	0.38596	T	0.98	0.59353	D	0.782	0.57384	P	0.000053	0.53742	D	0.163867	0.784419	0.36625	D	1.355	0.33814	L	3.78	0.76037	T	-1.62	0.38924	N	0.123	0.11483	-0.5098	0.68294	T	0.274	0.64598	T	10	0.009121209	0.00206	T	0.318	0.91385	D	0.370	0.68930	.	.	0.64536359344	0.64243	0.5643018623974551	0.56357	0.478096384883	0.46899	0.549512326717	0.45789	T	0.285052	0.65784	T	-0.329821	0.06126	T	-0.241976	0.50606	T	0.0173554213605452	0.00474	T	0.805919	0.45429	T	0.21897237	0.44417	0.21848269	0.46553	0.24647926	0.47617	0.209051	0.45232	-6.183	0.48991	T	0.1177093208259177	0.10783	0.160	0.45871	B	.;.;.;.;.	.;.;.;.;.	3.563521	0.50150	22.9	0.99918718692552411	0.98586	0.49487	0.28444	N	AEFDBCI	0.195368	0.32240	N	0.0741978033257675	0.45262	2.785641	0.0888800289740042	0.43988	2.689319	0.999999340276584	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	2.345000	0.43675	2.654000	0.33835	0.533000	0.24879	0.991000	0.37257	0.984000	0.30665	0.986000	0.61781	0.0:1.0:0.0:0.0	14.866	0.70049	923	0.18507	.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.011450	0.02632	647.33	33	chr19	35299590	.	C	T	647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=682;ExcessHet=0;FS=1.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.155;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	18	0	1	0
chr19	35341070	35341070	C	A	exonic	CD22	.	nonsynonymous SNV	CD22:NM_001185101:exon5:c.C908A:p.T303K,CD22:NM_001185099:exon6:c.C1175A:p.T392K,CD22:NM_001278417:exon6:c.C923A:p.T308K,CD22:NM_001185100:exon7:c.C1439A:p.T480K,CD22:NM_001771:exon7:c.C1439A:p.T480K	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.023048202532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454012779	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.946	0.02166	T	1.0	0.02411	T	0.011	0.15914	B	0.009	0.14300	B	0.000491	0.00618	N	3.336540	1	0.08975	N	-0.115	0.04602	N	-2.0	0.85393	D	1.36	0.00878	N	0.176	0.18920	-0.7125	0.59830	T	0.256	0.62631	T	10	0.07350466	0.11114	T	0.023048	0.45988	T	0.261	0.57352	0.562	0.68229	0.442261297928	0.43845	0.7702111206997294	0.76970	0.156283666226	0.17638	0.261150926352	0.05028	T	0.17484	0.52420	T	-0.124817	0.32338	T	-0.417068	0.31413	T	0.0455974090259878	0.04710	T	0.371363	0.09517	T	0.032038875	0.03153	0.036154017	0.03006	0.032038875	0.03153	0.036154017	0.03006	-3.318	0.29517	T	.	.	0.079	0.11941	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.248827	0.00057	0.001	0.61157523193485408	0.06639	0.01186	0.04246	N	AEFBHCI	0.066771	0.13093	N	-2.15822050806373	0.00095	0.004066634	-2.27522555824563	0.00075	0.003315268	0.99999999977623	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	-10.8	0.00171	-3.956000	0.00367	-5.481000	0.01703	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.1186:0.3455:0.1268	3.575	0.07483	917	0.20147	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2336.33	33	chr19	35341070	.	C	A	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=819;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.38;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1205	18	0	1	0
chr19	35352089	35352089	G	A	exonic	FFAR1	.	nonsynonymous SNV	FFAR1:NM_005303:exon1:c.G538A:p.G180S	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.00644976338117	0.0031	0.00159744	0.0031	0.0005	0.0062	0.0001	0.0013	0.0039	0.0070	0.0015	0.0030724	475	154602	rs146654047	0.0033	0.0033	0.0033	0.0033	0.0071	0.0032	0.0032	0.0054	0.0048	0.0006	0.0048	0.0018	5.039e-05	0.0015	0.0071	0.0037	0.0030	0.0013	0.0034	0.0034	0.0033	0.0034	0.0063	0.0031	0.0030	0.0053	0.0049	0.0008	0.0154	0.0063	0.0017	0.0002	0.0031	0.0170	0.0045	0.0052	0.0017	0.719	0.03937	T	0.509	0.10857	T	0.9	0.49598	P	0.393	0.44248	B	0.089768	0.20410	U	0.368803	0.944377	0.26693	N	2.045	0.56016	M	1.26	0.36330	T	1.02	0.01369	N	0.29	0.32812	-1.0765	0.08043	T	0.037	0.15770	T	10	0.009789884	0.00220	T	0.00645	0.16985	T	0.210	0.50028	.	.	0.768492288142	0.76637	0.3387500136677517	0.33788	0.816357047678	0.66954	0.381714254618	0.22500	T	0.076331	0.35392	T	-0.324809	0.06511	T	-0.235337	0.51253	T	0.0306727178812722	0.02094	T	0.679032	0.28770	T	0.039642032	0.05511	0.053662587	0.09083	0.039642032	0.05511	0.053662587	0.09082	-2.989	0.10063	T	.	.	0.114	0.22789	B	.	.	2.860469	0.37796	20.6	0.99624962377856197	0.75655	0.88169	0.47979	D	AEFDBCI	0.380739	0.46326	N	-0.162654281514374	0.34697	1.983671	-0.130512196568885	0.34167	1.962341	0.857522924157252	0.25162	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.8	2.72	0.31179	4.437000	0.59698	2.934000	0.35631	0.654000	0.53741	1.000000	0.71638	0.999000	0.35428	0.125000	0.19370	0.0:0.2027:0.7973:0.0	10.878	0.46129	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015306	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2185.33	34	chr19	35352089	.	G	A	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.149;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	18	0	1	0
chr19	35371380	35371380	G	C	exonic	GPR42	.	nonsynonymous SNV	GPR42:NM_001348195:exon2:c.G21C:p.Q7H	.	.	.	.	.	.	.	.	.	.	.	2808516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0268005195375	.	0.00119808	0.0021	0	0.0008	0	0.0012	0.0034	0	0.0010	0.0006921	107	154602	rs200980961	0.0015	0.0022	0.0015	0.0015	0.0030	0.0014	0.0014	0.0017	0.0017	0.0004	0.0018	6.187e-05	0	0.0002	0.0030	0.0018	0.0015	0.0005	0.0022	0.0042	0.0021	0.0024	0.0060	0.0019	0.0018	0.0043	0.0037	0.0023	0	0.0060	0.0012	0	0	0	0.0017	0.0090	0.0022	0.362	0.11844	T	0.159	0.31527	T	0.0	0.02946	B	0.0	0.01387	B	0.109206	0.02622	N	2.939750	1	0.08975	N	.	.	.	-0.15	0.65192	T	-0.8	0.22078	N	0.048	0.01999	-1.0258	0.21821	T	0.131	0.44168	T	9	0.006624341	0.00150	T	0.026801	0.49675	D	0.092	0.26621	0.153	0.05648	0.179529687257	0.17594	0.12067428052473039	0.11994	.	.	0.307459324598	0.11523	T	0.002165	0.01566	T	-0.443872	0.01227	T	-0.670817	0.07556	T	0.00657982219828658	0.00074	T	0.155484	0.01357	T	0.041731987	0.06202	0.031775035	0.01813	0.041731987	0.06201	0.031775035	0.01813	-3.577	0.17525	T	.	.	0.086	0.10883	B	.;.	.;.	-0.140197	0.03408	0.618	0.79913798765203203	0.12958	0.04051	0.09496	N	AEFDGI	0.056654	0.10490	N	-0.956278192076679	0.09552	0.4525973	-1.04844359162733	0.08739	0.431174	3.658614411302E-4	0.06707	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.76	0.487	0.16050	-0.553000	0.06104	-0.399000	0.09423	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1621:0.2727:0.5652:0.0	3.485	0.07179	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02778	1401.3	40	chr19	35371380	.	G	C	1401.3	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.406;DP=572;ExcessHet=0;FS=4.268;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.028;MQ=48.71;MQRankSum=1.25;QD=13.1;ReadPosRankSum=0.037;SOR=0.344	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	17	0	1	1
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1192:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1192:.	13	2	4	0
chr19	35511519	35511519	A	0	exonic	DMKN	.	.	.	.	467	923	28	1	103	133	0.0159915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1193.29	48	chr19	35511519	.	A	*	1193.29	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.49;DP=796;ExcessHet=0.3672;FS=1.325;InbreedingCoeff=-0.1143;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.131;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1192:.	16	0	2	1
chr19	35622734	35622734	G	A	splicing	HAUS5	NM_015302:exon18:c.1784+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1395859860	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.574e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.42e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180666	0.72105	D	0.0217379	0.71743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.227217	0.87742	29.3	0.99155487727823888	0.53931	0.74436	0.36414	D	AEFBI	.	.	.	0.881333261214309	0.90816	10.579	0.678351521302965	0.80740	7.366186	0.258861568032119	0.18766	0.184171	0.03992	0	0.221468	0.04790	0	0.068591	0.01938	0	0.109871	0.03346	0	0.824468	0.49294	4.73	4.73	0.59485	3.590000	0.53726	11.727000	0.94923	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.1006:0.0:0.8994:0.0	8.769	0.33879	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	33	chr19	35622734	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=772;ExcessHet=0;FS=7.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.345;SOR=0.591	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr19	35644778	35644778	C	T	exonic	ETV2	.	nonsynonymous SNV	ETV2:NM_001304549:exon5:c.C394T:p.R132C,ETV2:NM_001300974:exon6:c.C676T:p.R226C,ETV2:NM_014209:exon7:c.C955T:p.R319C	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0594157956808	.	0.000399361	0.0002	0	0	0	0	9.163e-05	0	0.0013	0.0001617	25	154602	rs149153832	8.974e-05	9.029e-05	4.498e-05	0.0001	0.0012	7.7e-05	7.243e-05	0.0010	0.0009	0	2.248e-05	0	0	0	0.0003	1.8e-05	0.0001	0.0012	3.938e-05	3.937e-05	2.569e-05	5.37e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.777	0.44168	P	0.244	0.38795	B	0.013586	0.28793	N	0.297232	0.999999	0.58761	D	1.415	0.35607	L	2.24	0.17923	T	-7.19	0.95789	D	0.468	0.50958	-1.0838	0.06628	T	0.086	0.33410	T	10	0.073232055	0.11038	T	0.059416	0.67655	D	0.208	0.49714	.	.	0.476908202251	0.47319	0.7293760925422329	0.72882	1.37440599727	0.84619	0.665876150131	0.62249	T	0.582	0.92447	D	-0.27146	0.11595	T	-0.208261	0.53862	T	0.306392334284892	0.25266	T	0.839916	0.51465	T	0.65044004	0.75387	0.46044004	0.68661	0.65044004	0.75389	0.46044004	0.68662	-6.615	0.51168	T	.	.	0.187	0.48998	B	.;.;.;.;.	.;.;.;.;.	4.827802	0.78691	27.0	0.99878125333336254	0.95491	0.87868	0.47558	D	ALL	0.582706	0.58222	D	0.305269844313703	0.56420	3.806545	0.282213354383388	0.54500	3.614892	0.999999999999853	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	4.7	3.66	0.41111	0.195000	0.16960	1.755000	0.28506	0.599000	0.40250	0.750000	0.29133	1.000000	0.68203	0.990000	0.65344	0.1881:0.7149:0.0:0.097	5.908	0.18256	912	0.21483	.;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain;Ets domain|Ets domain|Ets domain|Ets domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.02632	1719.33	34	chr19	35644778	.	C	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.09;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1257	18	0	1	0
chr19	35668637	35668637	C	T	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.C268T:p.R90W,UPK1A:NM_007000:exon3:c.C268T:p.R90W	.	416	1098	7	1	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.110512869742	7.7e-05	0.00139776	0.0011	0.0003	0.0001	0	0	8.484e-05	0	0.0071	0.0007956	123	154602	rs368559520	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0050	0.0049	0.0002	2.243e-05	0	0	0	0.0017	5.397e-05	0.0004	0.0054	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0046	0.0003	0	6.559e-05	0	0	0	0	2.941e-05	0	0.0071	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	0.999735	0.48635	D	1.385	0.34509	L	-1.39	0.80387	T	-4.46	0.82341	D	0.743	0.74553	0.306	0.87652	D	0.617	0.86477	D	10	0.05425027	0.05747	T	0.110513	0.78793	D	0.808	0.93777	.	.	0.582891127894	0.57961	0.8854098038142626	0.88509	0.770705930777	0.64745	0.513011574745	0.40643	T	0.459035	0.79678	T	0.000505471	0.51724	T	0.230007	0.84671	D	0.150541850771554	0.17146	T	0.90091	0.66280	D	0.7080513	0.78500	0.7293203	0.84007	0.7080513	0.78502	0.7293203	0.84008	-8.489	0.64357	D	.	.	0.432	0.61290	A	.;.;.;.	.;.;.;.	4.309455	0.65871	24.9	0.9989464833657733	0.96819	0.93542	0.58501	D	AEFDBI	0.488743	0.52694	N	0.448338967531989	0.64109	4.658205	0.386972193398403	0.60762	4.267418	0.116050146663118	0.16769	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	4.27	0.50009	1.314000	0.33202	2.576000	0.33390	0.598000	0.34611	0.950000	0.33075	0.990000	0.31317	0.259000	0.23493	0.1606:0.8394:0.0:0.0	13.209	0.59240	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.07895	3867.77	86	chr19	35668637	.	C	T	3867.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.28;DP=773;ExcessHet=0;FS=1.753;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=-2.353;SOR=0.534	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	1	1	0
chr19	35720516	35720516	T	C	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon3:c.T1169C:p.M390T	Dystonia 28, childhood-onset, Autosomal dominant	421	1076	25	0	0	25	0.0114837	.	.	.	1208549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.000	.	0.0010	0.00479233	0.0087	0.0005	0	0	0.0015	0.0025	0.0092	0.0203	0.0017658	273	154602	rs191195577	0.0034	0.0033	0.0028	0.0041	0.0210	0.0033	0.0033	0.0202	0.0198	0.0005	0.0018	0.0034	2.798e-05	0.0004	0.0032	0.0025	0.0031	0.0210	0.0018	0.0018	0.0018	0.0019	0.0142	0.0017	0.0016	0.0115	0.0105	0.0005	0	0.0014	0.0012	0	0.0005	0.0034	0.0022	0.0038	0.0142	0.195	0.20759	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.698985	0.06191	N	1.215830	1	0.08975	N	0.55	0.14455	N	2.25	0.17761	T	0.06	0.06253	N	0.043	0.01577	-0.9735	0.36453	T	0.012	0.04795	T	10	0.002669692	0.00041	T	.	.	.	0.000	0.00003	.	.	0.0675242888579	0.06100	0.1289655174123301	0.12821	.	.	0.339985907078	0.16436	T	0.028464	0.20614	T	-0.739682	0.00021	T	-0.819022	0.01472	T	0.00103793005777794	0.00010	T	0.265573	0.04334	T	0.03789585	0.04945	0.0910314	0.21379	0.03789585	0.04944	0.0910314	0.21379	-1.818	0.02563	T	0.11670112200966196	0.10578	0.143	0.31532	B	.	.	-1.126052	0.00610	0.016	0.42476038207020123	0.03134	0.03203	0.08199	N	AEFDBCI	0.025352	0.01723	N	-1.82998506622539	0.00476	0.02048146	-1.86884891316905	0.00563	0.02498569	0.999990691745033	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.14	-2.77	0.05529	-1.914000	0.01670	-1.222000	0.05984	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2008:0.3094:0.0:0.4898	3.905	0.08682	733	0.53988	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012873	0.000000	0.015837	0.006897	0.000000	0.013158	0.014706	0.021053	0.05263	3781.83	39	chr19	35720516	.	T	C	3781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.071;DP=965;ExcessHet=0.119;FS=1.475;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.078;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1065	17	0	2	0
chr19	35730375	35730375	C	T	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon24:c.C5110T:p.R1704C	Dystonia 28, childhood-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.684197606757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000388	0.44960	D	0.000000	1	0.81001	D	3.42	0.91902	M	-3.35	0.94022	D	-7.25	0.94352	D	0.672	0.67995	0.908	0.95783	D	0.858	0.95261	D	10	0.9734191	0.97018	D	0.684198	0.97389	D	0.827	0.94503	0.871	0.96372	0.884567935396	0.88343	0.9899013836942634	0.98985	.	.	0.74240219593	0.73326	T	0.525371	0.83477	D	0.366651	0.87760	D	0.288892	0.87603	D	0.996147990226746	0.88754	D	0.970403	0.89360	D	0.16481382	0.36714	0.09741018	0.23185	0.16481382	0.36713	0.09741018	0.23184	-9.599	0.71474	D	0.5325443561608735	0.60322	0.992	0.94272	P	.	.	5.552621	0.92063	32	0.99886736346649896	0.96204	0.95873	0.66520	D	AEFBCI	0.694750	0.65364	D	0.641052478137679	0.75791	6.368774	0.634900630826446	0.77491	6.689532	0.999999996826165	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.111000	0.57577	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.620	0.87981	722	0.55239	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	380.33	35	chr19	35730375	.	C	T	380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=708;ExcessHet=0;FS=21.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=-0.39;SOR=4.351	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1248	18	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V,PRODH2:NM_021232:exon6:c.C740T:p.A247V	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.010101	0.005435	0.035088	0.000000	0.008621	0.000000	0.003788	0.02632	776.33	34	chr19	35806769	.	G	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.2;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.282;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr19	35849604	35849604	A	C	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon6:c.T658G:p.S220A	Nephrotic syndrome, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	274359	not_provided|NPHS1-related_disorder|Congenital_nephrotic_syndrome|Finnish_congenital_nephrotic_syndrome	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.537	0.156696894926	0.0016	0.000199681	0.0011	0.0002	0.0009	0	0.0002	0.0018	0	0	0.001119	173	154602	rs115333628	0.0016	0.0016	0.0017	0.0015	0.0019	0.0015	0.0015	0.0019	0.0018	0.0004	0.0006	0.0023	0	9.365e-05	0.0010	0.0019	0.0012	1.159e-05	0.0011	0.0011	0.0013	0.0009	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0005	0.0035	0	9.423e-05	0.0068	0.0020	0.0009	0	0.231	0.18246	T	0.295	0.20680	T	0.673	0.41222	P	0.186	0.36104	B	0.143043	0.18223	N	0.592407	0.999997	0.08975	N	2.135	0.59519	M	-1.12	0.77593	T	-1.1	0.28497	N	0.639	0.80473	-0.7710	0.56803	T	0.245	0.61424	T	10	0.10821137	0.20134	T	0.156697	0.83742	D	0.537	0.80605	.	.	0.816173361753	0.81444	0.3772291070202999	0.37637	0.220917606323	0.24639	0.355771660805	0.18769	T	0.436485	0.78285	T	-0.212735	0.18997	T	-0.0774019	0.65094	T	0.0103546974769732	0.00142	T	0.49605	0.15399	T	0.12737411	0.29809	0.14011462	0.33410	0.111889854	0.26437	0.09928348	0.23700	-5.232	0.39326	T	0.17837519806783886	0.22857	0.086	0.13032	B	.;.	.;.	1.916117	0.24334	16.36	0.7888672904979388	0.12496	0.07832	0.13826	N	AEFBI	0.153198	0.27802	N	-0.189794232009891	0.33557	1.905232	-0.190362147597525	0.31890	1.809013	0.00260560351062499	0.09566	0.580535	0.33130	0	0.573078	0.20572	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.53	3.32	0.37134	1.569000	0.36037	7.810000	0.69404	0.683000	0.82448	0.298000	0.25306	1.000000	0.68203	0.054000	0.15518	0.6164:0.0:0.1829:0.2007	2.915	0.05395	792	0.45996	CD80-like, immunoglobulin C2-set;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1224.33	33	chr19	35849604	.	A	C	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.576;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr19	35850409	35850409	T	A	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon5:c.A563T:p.N188I	Nephrotic syndrome, type 1, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	266609	Finnish_congenital_nephrotic_syndrome|NPHS1-related_disorder|not_specified|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.172800029807	0.0070	0.00399361	0.0062	0.0014	0.0035	0	0.0023	0.0086	0.0088	0.0061	0.0063841	987	154602	rs145125791	0.0082	0.0082	0.0083	0.0081	0.0099	0.0081	0.0080	0.0093	0.0092	0.0013	0.0049	0.0022	2.519e-05	0.0031	0.0099	0.0094	0.0078	0.0054	0.0060	0.0060	0.0058	0.0062	0.0096	0.0057	0.0056	0.0089	0.0087	0.0018	0	0.0073	0.0023	0	0.0017	0.0136	0.0096	0.0085	0.0064	0.558	0.14945	T	0.002	0.79402	D	0.573	0.38659	P	0.345	0.42592	B	0.024644	0.26225	N	0.426594	0.999748	0.20516	N	1.725	0.44537	L	-1.02	0.76300	T	-1.07	0.27876	N	0.79	0.91505	-0.7899	0.55735	T	0.250	0.62004	T	10	0.025585592	0.00748	T	0.173	0.84967	D	0.254	0.56428	.	.	0.825841296263	0.82418	0.5267772119014899	0.52601	0.440271085869	0.44040	0.498971521854	0.38684	T	0.298959	0.67150	T	-0.373424	0.03424	T	-0.301212	0.44596	T	0.00483326277362372	0.00052	T	0.787021	0.42574	T	0.22393212	0.45025	0.13637835	0.32626	0.23267217	0.46059	0.15676485	0.36687	-3.252	0.13126	T	0.10269732560657087	0.07837	0.133	0.34316	B	.;.	.;.	1.361850	0.17710	13.32	0.96442349684974671	0.29834	0.52689	0.29191	D	AEFBI	0.131456	0.25040	N	-0.314588505378988	0.28593	1.578398	-0.376324948255399	0.25704	1.415224	0.00116509568243458	0.08293	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.542086	0.14980	0	.	.	4.31	2.23	0.27189	0.514000	0.22492	2.022000	0.30213	0.609000	0.47794	0.522000	0.27127	0.994000	0.32194	0.223000	0.22544	0.0:0.2369:0.0:0.7631	5.104	0.14109	783	0.47268	CD80-like, immunoglobulin C2-set;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.010101	0.004076	0.000000	0.050000	0.008621	0.006098	0.003788	0.02632	1145.33	33	chr19	35850409	.	T	A	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.654;DP=733;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.446;SOR=0.437	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1275	18	0	1	0
chr19	35861983	35861983	G	A	exonic	KIRREL2	.	nonsynonymous SNV	KIRREL2:NM_001329530:exon10:c.G1319A:p.R440Q,KIRREL2:NM_199179:exon10:c.G1319A:p.R440Q,KIRREL2:NM_001363667:exon11:c.G1469A:p.R490Q,KIRREL2:NM_032123:exon11:c.G1469A:p.R490Q,KIRREL2:NM_199180:exon11:c.G1469A:p.R490Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3991187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0245707602621	.	.	2.205e-05	0	0	0	0	3.877e-05	0	0	5.17e-05	8	154602	rs749694185	4.177e-05	4.309e-05	4.359e-05	3.993e-05	0.0009	3.314e-05	3.004e-05	0.0003	0.0002	0	0	0	7.564e-05	0	0.0009	4.139e-05	8.291e-05	2.33e-05	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.202	0.26740	T	0.163	0.31125	T	.	.	.	.	.	.	0.000760	0.42006	D	0.000000	0.99668	0.81001	D	.	.	.	2.56	0.13673	T	-0.59	0.17624	N	0.474	0.56058	-1.1436	0.01229	T	0.061	0.25528	T	10	0.40359983	0.55738	T	0.024571	0.47557	T	0.177	0.44549	.	.	0.391930172978	0.38808	0.7768114398076484	0.77631	0.0719830884204	0.08067	0.476736009121	0.35607	T	.	.	.	-0.253285	0.13699	T	-0.375901	0.36202	T	0.624830961227417	0.37404	D	0.863414	0.69569	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26825	B	.;.;.;.	.;.;.;.	4.486287	0.70044	25.5	0.99941600867758196	0.99797	0.99419	0.95789	D	AEFDBI	0.915000	0.87917	D	0.518652865854407	0.68193	5.183643	0.505894956099974	0.68387	5.21293	0.999999743931422	0.74766	0.635344	0.42169	0	0.563428	0.19063	0	0.654045	0.52621	0	0.530356	0.10902	0	.	.	4.95	4.95	0.64894	8.418000	0.90123	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0:0.0:1.0:0.0	13.686	0.61996	851	0.35303	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	35	chr19	35861983	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.339;DP=755;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.287;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr19	36039370	36039370	G	-	exonic	THAP8	.	frameshift deletion	THAP8:NM_001331103:exon3:c.496delC:p.H166Tfs*16,THAP8:NM_001331104:exon3:c.496delC:p.H166Tfs*16,THAP8:NM_152658:exon3:c.625delC:p.H209Tfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	.	0.0010	0.0023	0	0	0	0.0032	0	0	0.0001921	5	26028	rs552924745	0.0026	0.0026	0.0028	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0007	0.0005	0.0004	0	0.0038	0.0004	0.0031	0.0017	3.794e-05	0.0018	0.0018	0.0019	0.0018	0.0033	0.0017	0.0016	0.0029	0.0028	0.0003	0.0011	0.0004	0	0	0.0034	0	0.0033	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1397.29	33	chr19	36039369	.	TG	T	1397.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.346;DP=719;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=-0.623;SOR=1.251	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	18	0	1	0
chr19	36067375	36067375	A	G	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon6:c.A631G:p.S211G,WDR62:NM_173636:exon6:c.A631G:p.S211G	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0249919464945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868849406	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.008	0.67890	D	0.999	0.77913	D	0.958	0.70027	D	0.000000	0.84330	D	0.079503	0.999593	0.47742	D	2.405	0.69568	M	-0.07	0.63738	T	-3.32	0.70191	D	0.463	0.49965	-0.4013	0.71985	T	0.340	0.70584	T	10	0.41988385	0.56792	T	0.024992	0.47973	T	0.164	0.42212	0.426	0.47185	0.794743456015	0.79283	0.5959413236051808	0.59524	0.243677403061	0.26869	0.641404032707	0.58764	T	0.085149	0.37438	T	0.0869805	0.62847	D	-0.112835	0.62384	T	0.94111430644989	0.61406	D	0.962504	0.85970	D	0.37896279	0.59241	0.33235332	0.59084	0.37896279	0.59242	0.33235332	0.59084	-6.932	0.53536	T	0.567275676202693	0.63465	0.138	0.30130	B	.;.;.	.;.;.	4.940050	0.81522	27.6	0.99821408468593065	0.90414	0.87342	0.46852	D	AEFBCI	0.461643	0.51132	N	0.571793655951702	0.71418	5.647936	0.584717048258379	0.73845	6.037389	0.438000643618635	0.20429	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	3.545000	0.53401	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.679	0.61949	726	0.54788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	39	chr19	36067375	.	A	G	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.033;DP=743;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.177;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	18	0	1	0
chr19	36104523	36104523	C	A	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon31:c.C4159A:p.L1387I,WDR62:NM_173636:exon31:c.C4144A:p.L1382I	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	169536	not_specified|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0304345844044	0.0004	0.000798722	0.0010	0	0.0017	0	0	0.0008	0.0022	0.0028	0.0008991	139	154602	rs147652186	0.0005	0.0005	0.0005	0.0006	0.0069	0.0005	0.0005	0.0052	0.0046	0.0001	0.0009	0.0008	0	0	0.0069	0.0004	0.0010	0.0021	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0003	0.0009	0.0002	0	0.0034	0.0007	0.0024	0.0019	0.554	0.06502	T	0.4	0.15010	T	0.435	0.35719	B	0.107	0.31211	B	0.008996	0.01226	N	2.611240	1	0.08975	N	1.59	0.40313	L	0.93	0.47477	T	-0.05	0.07736	N	0.136	0.16447	-1.0256	0.21886	T	0.083	0.32642	T	10	0.0052885413	0.00116	T	0.030435	0.52748	D	0.043	0.11576	.	.	0.300784259202	0.29686	0.03788552045407618	0.03734	0.531777514646	0.50659	0.334183216095	0.15565	T	8.6E-4	0.00434	T	-0.617959	0.00113	T	-0.665669	0.07889	T	0.0233234995645755	0.01062	T	0.472453	0.14032	T	0.043267965	0.06712	0.028746992	0.01140	0.039639484	0.05511	0.02602251	0.00671	-6.412	0.49618	T	.	.	0.091	0.13268	B	.;.	.;.	0.534570	0.09034	5.815	0.64237696321947724	0.07438	0.13797	0.18057	N	ALL	0.041564	0.06335	N	-0.835515986372514	0.12409	0.6047094	-0.876454074126796	0.12652	0.6521091	0.999999821045024	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.34	2.22	0.27116	0.526000	0.22680	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7691:0.0:0.2309	6.144	0.19493	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.020468	0.000000	0.000000	0.006098	0.003788	0.05263	2877.83	34	chr19	36104523	.	C	A	2877.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.14;DP=804;ExcessHet=0.119;FS=13.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.381;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,58:111:99:0|1:36104523_C_A:1659,0,1447:36104523	17	0	2	0
chr19	36141122	36141122	-	GGCGGCGGCGGCGGCGGC	exonic	CAPNS1	.	nonframeshift insertion	CAPNS1:NM_001003962:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG,CAPNS1:NM_001302632:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG,CAPNS1:NM_001749:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs536693322	7.936e-05	7.402e-05	7.524e-05	8.366e-05	9.547e-05	6.604e-05	6.125e-05	7.178e-05	6.602e-05	8.777e-05	9.547e-05	0	0	0	0	8.718e-05	8.365e-05	5.874e-05	0.0001	0.0001	0.0001	9.595e-05	0.0002	6.616e-05	5.408e-05	0.0001	7.98e-05	2.456e-05	0	0.0002	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	552.78	23	chr19	36141122	.	G	GGGCGGCGGCGGCGGCGGC	552.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=595;ExcessHet=0.119;FS=1.432;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.954;SOR=0.379	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,109,1331	18	0	1	0
chr19	36141123	36141134	GGCGGCGGCGGC	-	exonic	CAPNS1	.	nonframeshift deletion	CAPNS1:NM_001003962:exon2:c.112_123del:p.G53_G56del,CAPNS1:NM_001302632:exon2:c.112_123del:p.G53_G56del,CAPNS1:NM_001749:exon2:c.112_123del:p.G53_G56del	.	341	1091	68	7	15	97	0.0362191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0037	0	0	0	0.0011	0	0.0004	0.0003428	53	154602	rs760260559	0.0013	0.0012	0.0013	0.0013	0.0073	0.0012	0.0012	0.0064	0.0061	0.0073	0.0025	6.052e-05	0.0009	0.0002	0.0040	0.0012	0.0018	0.0009	0.0026	0.0026	0.0028	0.0024	0.0067	0.0024	0.0023	0.0060	0.0058	0.0067	0	0.0008	0	0.0014	0.0003	0.0036	0.0012	0.0029	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	552.78	23	chr19	36141122	.	GGGCGGCGGCGGC	G	552.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=595;ExcessHet=0.119;FS=1.432;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.954;SOR=0.379	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,109,1331	18	0	1	0
chr19	36151678	36151680	CTT	-	exonic	COX7A1	.	nonframeshift deletion	COX7A1:NM_001864:exon2:c.91_93del:p.K31del	.	430	1051	40	1	0	42	0.0195896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00399361	0.0036	0.0002	0.0002	0	0	0.0015	0.0076	0.0135	0.0001921	5	26028	rs530285319	0.0026	0.0023	0.0021	0.0031	0.0150	0.0026	0.0025	0.0143	0.0140	0.0002	0.0004	0.0011	7.576e-05	0.0013	0.0106	0.0017	0.0036	0.0150	0.0017	0.0017	0.0015	0.0019	0.0200	0.0015	0.0014	0.0165	0.0152	0.0005	0	0.0004	0.0003	0.0003	0.0006	0.0045	0.0017	0.0016	0.0200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	343.29	61	chr19	36151677	.	GCTT	G	343.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.239;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-1.416;SOR=0.61	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,112,1657	18	0	1	0
chr19	36515163	36515163	G	T	exonic	ZNF260	.	nonsynonymous SNV	ZNF260:NM_001375596:exon2:c.C76A:p.P26T,ZNF260:NM_001166037:exon3:c.C76A:p.P26T,ZNF260:NM_001166038:exon3:c.C76A:p.P26T,ZNF260:NM_001012756:exon4:c.C76A:p.P26T,ZNF260:NM_001166036:exon4:c.C76A:p.P26T,ZNF260:NM_001375597:exon4:c.C76A:p.P26T,ZNF260:NM_001375598:exon4:c.C76A:p.P26T	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0161693882789	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs185835535	4.517e-05	4.515e-05	4.358e-05	4.679e-05	0.0007	3.643e-05	3.323e-05	0.0002	0.0001	0	2.24e-05	0	0	0	0.0007	3.779e-05	0.0001	0.0001	3.944e-05	3.941e-05	3.855e-05	4.037e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.013	0.53900	D	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.995903	0.23169	N	2.33	0.66821	M	1.59	0.28836	T	-4.5	0.78135	D	0.065	0.03841	-0.9590	0.39368	T	0.075	0.30210	T	9	0.07742572	0.12217	T	0.016169	0.37293	T	0.063	0.18251	.	.	0.248417906384	0.24464	0.07242795703977072	0.07179	0.114773647323	0.12943	0.226711019874	0.01733	T	0.230659	0.59678	T	-0.402499	0.02230	T	-0.612339	0.11795	T	0.100067644944883	0.12365	T	0.113689	0.00866	T	0.11288698	0.26666	0.095318064	0.22600	0.11288698	0.26665	0.095318064	0.22599	-6.56	0.50747	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	1.449740	0.18706	13.88	0.91621967688475381	0.20907	0.24267	0.22340	N	AEFGBCI	0.114723	0.22585	N	-0.801143529766088	0.13281	0.6531519	-0.920897669575921	0.11602	0.5920386	0.0140047679361678	0.12540	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	-0.88	0.10073	1.582000	0.36177	.	.	0.662000	0.56354	0.900000	0.31427	0.000000	0.08366	0.031000	0.13245	0.0828:0.1442:0.4942:0.2788	3.964	0.08918	509	0.75304	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1006.33	36	chr19	36515163	.	G	T	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.199;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1203	18	0	1	0
chr19	36638679	36638681	GGA	-	exonic	ZNF461	.	nonframeshift deletion	ZNF461:NM_001297623:exon5:c.1595_1597del:p.L532del,ZNF461:NM_001322826:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322827:exon5:c.1502_1504del:p.L501del,ZNF461:NM_001322821:exon6:c.1646_1648del:p.L549del,ZNF461:NM_001322823:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322825:exon6:c.1571_1573del:p.L524del,ZNF461:NM_001322828:exon6:c.1400_1402del:p.L467del,ZNF461:NM_153257:exon6:c.1664_1666del:p.L555del	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0155751	0.0127	0.0023	0.0961	0.0246	0	0.0002	0.0129	0.0159	0.0028047	73	26028	rs200326538	0.0035	0.0035	0.0036	0.0034	0.0687	0.0034	0.0034	0.0667	0.0658	0.0008	0.0687	0	0.0150	0	0.0003	4.233e-05	0.0050	0.0125	0.0055	0.0055	0.0045	0.0064	0.0368	0.0051	0.0050	0.0343	0.0333	0.0017	0	0.0368	0	0.0204	0	0	0.0001	0.0043	0.0157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005056	0.010101	0.000000	0.002924	0.000000	0.000000	0.003106	0.011364	0.05263	3180.79	33	chr19	36638678	.	GGGA	G	3180.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.034;DP=734;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=-0.272;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	17	0	2	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.1053	3775.43	35	chr19	36720655	.	T	C	3775.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.645;DP=869;ExcessHet=0.7564;FS=2.009;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.792;SOR=0.845	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	15	0	4	0
chr19	36762310	36762310	G	A	exonic	ZNF850	.	nonsynonymous SNV	ZNF850:NM_001193552:exon3:c.C134T:p.S45L,ZNF850:NM_001267779:exon3:c.C134T:p.S45L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00125729620429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.101e-07	2.052e-06	1.408e-06	0	9.142e-07	0	0	.	.	0	0	0	0	0	0	9.142e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52727	D	0.975	0.58077	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.835	0.82492	M	4.08	0.03003	T	.	.	.	0.255	0.31027	.	.	.	.	.	.	.	0.15395606	0.29049	T	0.001257	0.01708	T	.	.	.	.	0.0954503805726	0.09146	0.0572069978998897	0.05661	0.690501490148	0.60534	0.406276941299	0.25941	T	0.040147	0.25430	T	-0.149755	0.28349	T	-0.452889	0.27377	T	.	.	.	0.772923	0.40417	T	0.044171363	0.07014	0.10686608	0.25717	0.044171363	0.07013	0.10686608	0.25716	-6.678	0.51644	T	.	.	0.119	0.26419	B	.;.;.	.;.;.	1.330679	0.17359	13.12	0.46021010815364044	0.03655	0.00465	0.02234	N	AEFBI	0.019528	0.00687	N	.	.	.	.	.	.	2.67496522755551E-5	0.03498	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	1.61	-2.69	0.05668	-0.596000	0.05816	.	.	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.4588:0.0:0.5412:0.0	5.635	0.16807	596	0.68392	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	39	chr19	36762310	.	G	A	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.201;DP=712;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.572;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	18	0	1	0
chr19	36819777	36819777	C	A	exonic	ZNF790	.	nonsynonymous SNV	ZNF790:NM_001242800:exon5:c.G567T:p.Q189H,ZNF790:NM_001242801:exon5:c.G567T:p.Q189H,ZNF790:NM_001242802:exon5:c.G567T:p.Q189H,ZNF790:NM_206894:exon5:c.G567T:p.Q189H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0009	0.0133786	0.0111	0.0018	0.0876	0.0215	0	0.0002	0.0111	0.0065	0.0104656	1618	154602	rs34051375	0.0032	0.0033	0.0036	0.0029	0.0757	0.0032	0.0031	0.0735	0.0727	0.0006	0.0757	0	0.0145	0	0.0002	4.049e-05	0.0044	0.0053	0.0053	0.0053	0.0046	0.0060	0.0384	0.0050	0.0048	0.0359	0.0349	0.0015	0	0.0384	0	0.0202	0	0	8.818e-05	0.0047	0.0062	0.037	0.43085	D	0.049	0.48336	D	0.964	0.55854	D	0.202	0.36942	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	2.3	0.16953	T	-3.48	0.67941	D	0.146	0.17553	-1.0331	0.19459	T	0.008	0.02679	T	9	0.0026456714	0.00041	T	.	.	.	0.028	0.06331	0.347	0.34274	.	.	0.08673104919060332	0.08607	0.0473535567413	0.05163	0.210014641285	0.00812	T	0.039939	0.25359	T	-0.625952	0.00101	T	-0.611064	0.11899	T	0.0416246642562432	0.03985	T	0.337066	0.07215	T	0.09006448	0.21064	0.08874033	0.20708	0.09006448	0.21064	0.08874033	0.20708	-4.818	0.34800	T	.	.	0.107	0.19958	B	.;.;.;.	.;.;.;.	-0.346841	0.02419	0.272	0.95400213916603982	0.26850	0.00391	0.01965	N	AEFGBHCI	0.050771	0.08905	N	-0.553404838522101	0.20376	1.073746	-0.727600667751596	0.16275	0.8601756	0.00117183169901433	0.08304	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.17	0.952	0.18708	-0.104000	0.10893	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.130000	0.19568	0.0:0.5239:0.0:0.4761	5.834	0.17854	588	0.69043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2250.33	35	chr19	36819777	.	C	A	2250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=880;ExcessHet=0;FS=6.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.316;SOR=0.434	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	18	0	1	0
chr19	36996783	36996783	G	T	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.G900T:p.E300D,ZNF568:NM_001204838:exon10:c.G1092T:p.E364D	.	408	1099	15	0	0	15	0.00677813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00219649	0.0038	0	0	0	0	0.0010	0.0039	0.0091	0.0006468	100	154602	rs368808353	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	3.136e-05	2.684e-05	0	0	0	0.0047	4.14e-05	0.0006	0.0068	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	0.0001	0	6.537e-05	0	0	0	0.0034	8.82e-05	0.0005	0.0087	0.032	0.59928	D	0.059	0.50226	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-2.5	0.54382	D	0.289	0.32701	-0.9974	0.30646	T	0.054	0.22959	T	9	0.0076031685	0.00173	T	.	.	.	0.024	0.04979	0.436	0.48828	0.222439326576	0.21863	.	.	.	.	.	.	.	0.145526	0.48270	T	-0.577846	0.00199	T	-0.598387	0.12946	T	0.0174229739702288	0.00479	T	0.458954	0.22079	T	.	.	.	.	.	.	.	.	-6.517	0.50417	T	.	.	0.197	0.41888	B	.;.;.;.	.;.;.;.	1.896361	0.24088	16.26	0.99229740973864811	0.56183	0.63508	0.32111	D	AEFDBI	0.098480	0.19843	N	-0.861031160865464	0.11779	0.5703684	-0.860440285229182	0.13037	0.6740883	0.00204830577385185	0.09112	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.89	-1.13	0.09274	-0.062000	0.11631	.	.	-0.976000	0.01917	0.489000	0.26871	0.000000	0.08366	0.000000	0.00833	0.189:0.1481:0.5117:0.1512	2.407	0.04146	662	0.61715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1600.33	95	chr19	36996783	.	G	T	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.756;DP=1594;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-1.344;SOR=0.818	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	18	0	1	0
chr19	37242575	37242575	G	C	exonic	ZNF383	.	nonsynonymous SNV	ZNF383:NM_001345947:exon5:c.G339C:p.E113D,ZNF383:NM_152604:exon5:c.G339C:p.E113D,ZNF383:NM_001345948:exon6:c.G339C:p.E113D,ZNF383:NM_001345949:exon8:c.G339C:p.E113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00112702533126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.242	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.006426	0.32040	N	0.000000	1	0.08975	N	1.845	0.48678	L	3.27	0.06602	T	-1.93	0.44852	N	0.105	0.08925	-1.0015	0.29488	T	0.012	0.04558	T	10	0.06562859	0.08881	T	0.001127	0.01385	T	0.050	0.13987	0.171	0.07655	0.204665344411	0.20097	0.2024536650823275	0.20162	0.150098835107	0.16931	0.348167300224	0.17652	T	0.057767	0.30656	T	-0.375511	0.03324	T	-0.777172	0.02539	T	0.114952934813616	0.13929	T	0.0224978	0.09705	T	0.06623151	0.14232	0.06962108	0.14691	0.06623151	0.14232	0.06962108	0.14691	-5.398	0.40900	T	.	.	0.128	0.27343	B	.;.;.;.	.;.;.;.	0.723632	0.10925	7.596	0.96424423085987965	0.29771	0.01844	0.05710	N	AEFBI	0.022710	0.01170	N	-1.0235368651313	0.08117	0.3794743	-1.0718711128081	0.08257	0.4052104	6.0225870964308E-4	0.07437	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.71	-2.53	0.05959	-0.472000	0.06702	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.5:0.1852:0.3148:0.0	4.205	0.09939	666	0.61362	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1279.33	33	chr19	37242575	.	G	C	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.129;DP=721;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.097;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr19	37363516	37363516	C	T	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.C1541T:p.A514V,ZNF875:NM_001329776:exon4:c.C1538T:p.A513V,ZNF875:NM_001329761:exon5:c.C1667T:p.A556V,ZNF875:NM_001329762:exon5:c.C1667T:p.A556V,ZNF875:NM_001329764:exon5:c.C1664T:p.A555V,ZNF875:NM_001329768:exon5:c.C1625T:p.A542V,ZNF875:NM_001329769:exon5:c.C1622T:p.A541V,ZNF875:NM_001329779:exon5:c.C1379T:p.A460V,ZNF875:NM_001353803:exon5:c.C1664T:p.A555V,ZNF875:NM_001329772:exon6:c.C1541T:p.A514V,ZNF875:NM_001329775:exon6:c.C1538T:p.A513V,ZNF875:NM_001329777:exon6:c.C1538T:p.A513V,ZNF875:NM_001329778:exon6:c.C1538T:p.A513V,ZNF875:NM_181786:exon6:c.C1721T:p.A574V,ZNF875:NM_001329766:exon7:c.C1649T:p.A550V,ZNF875:NM_001329771:exon7:c.C1541T:p.A514V,ZNF875:NM_001329774:exon7:c.C1538T:p.A513V,ZNF875:NM_001329763:exon8:c.C1664T:p.A555V,ZNF875:NM_001329765:exon8:c.C1649T:p.A550V,ZNF875:NM_001329767:exon8:c.C1646T:p.A549V,ZNF875:NM_001329770:exon8:c.C1607T:p.A536V	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00168717853437	0.0006	0.000798722	0.0007	0	0.0007	0	0	0.0012	0	0.0001	0.0006986	108	154602	rs142002230	0.0005	0.0005	0.0004	0.0005	0.0057	0.0004	0.0004	0.0042	0.0037	0.0002	0.0007	0.0081	0	0	0.0057	0.0003	0.0012	0.0002	0.0005	0.0005	0.0004	0.0005	0.0009	0.0004	0.0004	0.0006	0.0004	2.408e-05	0	0.0009	0.0075	0	0	0.0102	0.0004	0.0009	0.0002	0.208	0.31088	T	0.161	0.31326	T	0.006	0.20242	B	0.036	0.22909	B	.	.	.	.	1	0.81001	D	-0.82	0.01544	N	2.55	0.13795	T	0.5	0.04091	N	0.052	0.06322	-0.9872	0.33298	T	0.012	0.04463	T	9	0.0049036443	0.00105	T	0.001687	0.02805	T	0.075	0.21907	.	.	0.245101548738	0.24120	0.01845186416152454	0.01799	0.156914537164	0.17716	0.586216807365	0.50961	T	0.017911	0.21597	T	-0.517712	0.00454	T	-0.616134	0.11492	T	0.0442445513207123	0.04464	T	0.653235	0.32735	T	0.07077461	0.15617	0.103951916	0.24954	0.07077461	0.15617	0.103951916	0.24953	-4.112	0.27612	T	.	.	0.103	0.35931	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348115	0.30101	18.33	0.99874996340096978	0.95244	0.03021	0.07899	N	AEFBI	0.040740	0.06102	N	-0.75442341873397	0.14513	0.7235711	-0.618406992337968	0.19021	1.01869	0.998718508239538	0.37518	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	2.58	0.30011	0.044000	0.13876	.	.	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.0:0.8659:0.0:0.1341	7.295	0.25561	689	0.59000	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.025862	0.003049	0.000000	0.02632	2103.33	35	chr19	37363516	.	C	T	2103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.46;DP=1319;ExcessHet=0;FS=5.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.663;SOR=0.369	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	18	0	1	0
chr19	37537681	37537681	C	A	exonic	ZNF793	.	stopgain	ZNF793:NM_001013659:exon8:c.C1023A:p.C341X	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.03558	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.282	0.31925	.	.	.	.	.	.	.	0.3358653	0.50737	T	.	.	.	.	.	.	.	0.76091865128	0.75874	.	.	.	.	.	.	.	.	.	.	0.362076	0.87411	D	0.282321	0.87249	D	.	.	.	0.249775	0.03753	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.49137	B	.	.	6.527795	0.95354	34	0.98747056642556352	0.45602	0.12884	0.17537	N	AEFGBHCI	0.124942	0.24123	N	0.0102872040875392	0.42323	2.547837	-0.31542316327207	0.27600	1.532665	1.09398434326163E-4	0.05123	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.13	-3.1	0.04991	-0.742000	0.04955	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.781000	0.36947	0.0:0.3912:0.0:0.6088	10.352	0.43124	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	41	chr19	37537681	.	C	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=706;ExcessHet=0;FS=6.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.465;SOR=1.221	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	37565540	37565543	GTAA	-	exonic	ZNF571	.	frameshift deletion	ZNF571:NM_001321272:exon4:c.885_888del:p.Y296Ifs*54,ZNF571:NM_016536:exon4:c.885_888del:p.Y296Ifs*54,ZNF571:NM_001290314:exon5:c.885_888del:p.Y296Ifs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.964e-05	0	8.729e-05	0	0	0	0	0.0003	3.88e-05	6	154602	rs772841881	1.984e-05	1.984e-05	1.361e-05	2.613e-05	0.0002	1.392e-05	1.204e-05	0.0001	0.0001	0	0	0	0	0	0	8.094e-06	4.969e-05	0.0002	2.634e-05	2.629e-05	2.574e-05	2.697e-05	0.0004	8.16e-06	5.15e-06	7.312e-05	3.037e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000509	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1205.29	35	chr19	37565539	.	GGTAA	G	1205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=951;ExcessHet=0;FS=4.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.91;SOR=1.257	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	18	0	1	0
chr19	37613144	37613144	C	T	exonic	ZNF540	.	nonsynonymous SNV	ZNF540:NM_001172226:exon4:c.C1768T:p.L590F,ZNF540:NM_001172225:exon5:c.C1864T:p.L622F,ZNF540:NM_152606:exon5:c.C1864T:p.L622F	.	418	1102	1	1	0	3	0.00135931	.	.	.	4103589	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.00716691620139	.	.	6.657e-05	0	0	0	0	1.512e-05	0	0.0004	5.17e-05	8	154602	rs771756082	4.652e-05	4.652e-05	1.77e-05	7.564e-05	0.0007	3.728e-05	3.412e-05	0.0006	0.0005	0	0	0	0	0	0.0002	0	8.28e-05	0.0007	4.601e-05	4.597e-05	1.285e-05	8.074e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0010	0.021	0.49117	D	0.016	0.60972	D	0.139	0.27501	B	0.102	0.30857	B	.	.	.	.	1	0.08975	N	2.325	0.66631	M	0.68	0.51952	T	-2.73	0.58085	D	0.099	0.28028	-0.9440	0.41976	T	0.126	0.43112	T	9	0.08100256	0.13212	T	0.007167	0.19006	T	0.058	0.16647	0.664	0.80199	0.508637063495	0.50502	0.025075359920445284	0.02458	0.380387232299	0.39407	0.266942441463	0.05745	T	0.186598	0.53994	T	-0.411016	0.01957	T	-0.464009	0.26165	T	0.209836381908513	0.20945	T	0.784922	0.42251	T	0.13804428	0.31941	0.12448446	0.30006	0.13804428	0.31940	0.12448446	0.30005	-6.652	0.52908	T	.	.	0.423	0.65221	A	.;.;.;.	.;.;.;.	2.068659	0.26303	17.07	0.99749356396424149	0.84152	0.03540	0.08735	N	AEFGBCI	.	.	.	-0.754294703104188	0.14516	0.7237803	-0.851084941303212	0.13262	0.6869855	6.17821089713308E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.8	0.395	0.15527	-0.611000	0.05718	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.247000	0.23184	0.0:0.7648:0.0:0.2352	7.674	0.27642	658	0.62094	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	2212.81	69	chr19	37613144	.	C	T	2212.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.07;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	18	1	0	0
chr19	37885345	37885345	G	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.C8326T:p.R2776W,WDR87:NM_031951:exon6:c.C8209T:p.R2737W	.	.	.	.	.	.	.	.	.	.	.	1239030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	.	0.0245607	0.0063	0.0022	0.0396	0.0654	0	0.0001	0.0174	0.0082	0.0030595	473	154602	rs117520417	0.0040	0.0039	0.0042	0.0039	0.0696	0.0040	0.0039	0.0673	0.0664	0.0008	0.0696	0	0.0576	0	0	6.766e-05	0.0071	0.0076	0.0070	0.0070	0.0062	0.0080	0.0689	0.0067	0.0065	0.0631	0.0607	0.0017	0	0.0372	0	0.0689	0	0	0.0001	0.0109	0.0091	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	0.858376	0.28393	N	.	.	.	0.93	0.44065	T	-3.94	0.73378	D	0.478	0.51315	-1.1108	0.03002	T	0.017	0.06855	T	9	0.0028811097	0.00046	T	.	.	.	0.151	0.39764	.	.	.	.	0.2841956475103223	0.28332	.	.	0.392634630203	0.24040	T	.	.	.	-0.46815	0.00873	T	-0.384393	0.35207	T	0.0507914978096562	0.05639	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41783	B	.;.	.;.	4.485774	0.70031	25.5	0.96955808771800434	0.31755	0.62522	0.31807	D	AEFGBCI	0.318396	0.42211	N	0.410487341846021	0.61998	4.408828	0.394013127577303	0.61194	4.316279	0.0110701759682301	0.12125	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.86	3.83	0.43287	0.992000	0.29268	.	.	0.676000	0.76740	0.994000	0.38300	0.995000	0.32472	0.990000	0.65344	0.1039:0.0:0.8961:0.0	8.410	0.31801	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001196	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2289.33	79	chr19	37885345	.	G	A	2289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1948;ExcessHet=0;FS=1.153;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.15;SOR=0.788	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	18	0	1	0
chr19	37885954	37885954	G	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.C7717T:p.R2573X,WDR87:NM_031951:exon6:c.C7600T:p.R2534X	.	426	1087	9	0	0	9	0.00412277	.	.	.	1630796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0007	0.000998403	0.0017	0	0	0	0	0.0030	0	0.0013	0.000401	62	154602	rs142857310	0.0006	0.0006	0.0006	0.0007	0.0079	0.0006	0.0006	0.0061	0.0054	0.0003	0.0012	0.0079	8.394e-05	2.02e-05	0.0079	0.0004	0.0014	0.0009	0.0006	0.0006	0.0005	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	7.218e-05	0	0.0012	0.0075	0.0002	0	0.0136	0.0004	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0660006	0.60358	T	0.271588	0.86661	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	Low;.	7.100861	0.96141	35	0.97014068788083707	0.31997	0.02753	0.07439	N	AEFDBI	0.059418	0.11222	N	-0.337948591625169	0.27717	1.523002	-0.728047669585888	0.16264	0.8595468	1.77257058903467E-4	0.05786	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.14	-2.33	0.06340	0.045000	0.13898	.	.	0.676000	0.76740	0.004000	0.16614	0.000000	0.08366	0.255000	0.23391	0.0:0.0:0.2862:0.7138	12.882	0.57412	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009926	0.005319	0.000000	0.017699	0.000000	0.041667	0.011628	0.000000	0.02632	2419.33	85	chr19	37885954	.	G	A	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=1350;ExcessHet=0;FS=0.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.221;SOR=0.782	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,101,1800	18	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,24:113:99:0|1:37887093_A_G:364,0,3204:37887093	10	0	8	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,24:114:99:0|1:37887093_A_G:362,0,3211:37887093	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,24:113:99:0|1:37887093_A_G:365,0,3177:37887093	4	0	11	4
chr19	37889059	37889059	C	A	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G4612T:p.A1538S,WDR87:NM_031951:exon6:c.G4495T:p.A1499S	.	.	.	.	.	.	.	.	.	.	.	1168430	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0013	0.024361	0.0056	0.0017	0.0381	0.0649	0	0.0002	0.0157	0.0077	0.0030401	470	154602	rs117923468	0.0040	0.0038	0.0042	0.0039	0.0697	0.0039	0.0039	0.0674	0.0664	0.0008	0.0697	0	0.0576	0	0	6.116e-05	0.0070	0.0073	0.0070	0.0070	0.0061	0.0080	0.0687	0.0067	0.0065	0.0628	0.0605	0.0017	0	0.0372	0	0.0687	0	0.0034	0.0001	0.0109	0.0087	0.194	0.20835	T	0.131	0.34596	T	0.118	0.26577	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	0.85	0.47130	T	0.22	0.04694	N	0.036	0.01068	-1.0781	0.07721	T	0.006	0.02131	T	9	0.0026799738	0.00041	T	.	.	.	0.013	0.01715	.	.	.	.	0.14072687596123543	0.13995	.	.	0.179036736488	0.00085	T	.	.	.	-0.718824	0.00028	T	-0.745304	0.03672	T	0.00154021766476613	0.00016	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.;.	.;.	0.360647	0.07334	3.948	0.65942672752719744	0.07916	0.16607	0.19467	N	AEFGBI	0.065632	0.12813	N	-1.08438278733977	0.06930	0.3204538	-1.10941378194507	0.07519	0.3660862	0.0161617039132125	0.12799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.85	0.46	0.15895	0.396000	0.20592	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6157:0.3843:0.0	10.317	0.42925	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2933.33	45	chr19	37889059	.	C	A	2933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.59;DP=1184;ExcessHet=0;FS=5.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.302;SOR=0.624	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	18	0	1	0
chr19	37896196	37896196	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon3:c.G188A:p.S63N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.158833092727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.428e-06	6.156e-06	2.819e-06	1.014e-05	0.0004	3.03e-06	2.19e-06	6.155e-05	2.545e-05	0	0	0	0	0	0.0004	0	1.719e-05	7.572e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.229	0.25210	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	-0.83	0.74159	T	-0.32	0.12283	N	0.443	0.48134	-1.0276	0.21233	T	0.143	0.46477	T	8	0.101879686	0.18640	T	0.158833	0.83915	D	0.136	0.36778	0.345	0.33950	0.0986583533028	0.09354	0.12800629600678834	0.12725	.	.	.	.	.	.	.	.	-0.215997	0.18542	T	-0.548041	0.17513	T	0.123642973601818	0.14782	T	0.306369	0.05889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37914	B	.	.	1.172923	0.15627	11.99	0.52425315992452837	0.04746	0.02404	0.06808	N	AEFGBI	0.037740	0.05236	N	-1.51146478112669	0.01773	0.07770423	-1.64238266299174	0.01416	0.06400495	0.999999927425275	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	-11.5	0.00057	-0.168000	0.09914	.	.	-1.180000	0.01387	0.081000	0.22364	0.000000	0.08366	0.071000	0.16709	0.3227:0.1093:0.3788:0.1891	2.536	0.04428	646	0.63441	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2088.33	41	chr19	37896196	.	C	T	2088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=815;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.427;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	18	0	1	0
chr19	38081727	38081727	-	GCCACC	exonic	SIPA1L3	.	nonframeshift insertion	SIPA1L3:NM_015073:exon3:c.162_163insGCCACC:p.T64_T65insAT	.	0	220	6	0	0	6	0.0134529	.	.	.	716407	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0017	0.00958466	0.0025	0.0002	0.0030	0.0120	0.0003	0.0017	0.0032	0.0025	0.0012679	33	26028	rs569252662	0.0061	0.0063	0.0063	0.0060	0.0440	0.0060	0.0060	0.0422	0.0415	0.0019	0.0150	0.0272	0.0440	0.0028	0.0262	0.0041	0.0106	0.0041	0.0078	0.0079	0.0076	0.0081	0.0646	0.0075	0.0073	0.0589	0.0567	0.0017	0	0.0160	0.0291	0.0646	0.0044	0.0238	0.0050	0.0099	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1098.29	34	chr19	38081727	.	G	GGCCACC	1098.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.072;DP=701;ExcessHet=0;FS=4.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.12;ReadPosRankSum=0.074;SOR=0.255	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1187	18	0	1	0
chr19	38100016	38100016	C	T	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon5:c.C1720T:p.H574Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0182491132571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.99	0.63424	D	0.76	0.56425	P	0.000004	0.62929	D	0.104364	0.99973	0.48635	D	2.415	0.69758	M	-1.16	0.78082	T	-4.89	0.81431	D	0.576	0.59816	0.111	0.84370	D	0.529	0.82516	D	10	0.41175723	0.56272	T	0.018249	0.40250	T	0.465	0.76089	0.387	0.40788	0.360929992642	0.35699	0.4409793017771548	0.44014	1.38090304394	0.84778	0.793018877506	0.80902	T	0.267311	0.63933	T	0.106423	0.64978	D	-0.084907	0.64542	T	0.989697754383087	0.79917	D	0.939006	0.77019	D	0.6631182	0.76065	0.6152392	0.77604	0.6631182	0.76067	0.6152392	0.77605	-11.962	0.84666	D	.	.	0.177	0.38729	B	.	.	4.283546	0.65264	24.8	0.99818432007406033	0.90150	0.98201	0.80484	D	AEFDBI	0.591335	0.58747	D	0.652865941356503	0.76553	6.508049	0.64899844911708	0.78535	6.896054	0.99999957466884	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	4.79	0.60909	4.008000	0.56815	5.883000	0.50667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.8608:0.1392:0.0	15.459	0.75064	633	0.64743	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	715.33	33	chr19	38100016	.	C	T	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.529;DP=685;ExcessHet=0;FS=4.44;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.925;SOR=1.214	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr19	38218620	38218620	C	A	exonic	DPF1	.	nonsynonymous SNV	DPF1:NM_001135155:exon5:c.G469T:p.D157Y,DPF1:NM_001135156:exon5:c.G304T:p.D102Y,DPF1:NM_001289978:exon5:c.G469T:p.D157Y,DPF1:NM_001363579:exon5:c.G472T:p.D158Y,DPF1:NM_004647:exon5:c.G469T:p.D157Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0823532538216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.968	0.71741	D	0.004507	0.33669	U	0.180087	0.999788	0.49076	D	.	.	.	-2.82	0.92613	D	-5.77	0.89947	D	0.369	0.57177	-0.7448	0.58206	T	0.244	0.61319	T	10	0.6338005	0.68666	D	0.082353	0.73882	D	0.583	0.83249	0.381	0.39807	0.738188054649	0.73584	0.6265198780888878	0.62584	1.46387727901	0.86409	0.623761475086	0.56260	T	0.276421	0.64900	T	0.185008	0.72503	D	0.0279743	0.72146	D	0.976183235645294	0.71265	D	0.978136	0.92287	D	0.5553563	0.70253	0.5380055	0.73301	0.5553563	0.70254	0.5380055	0.73302	-6.201	0.49533	T	.	.	0.479	0.63609	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.874671	0.79886	27.2	0.99500852262001316	0.68031	0.92413	0.55654	D	AEFDBI	0.685783	0.64767	D	0.128248874735176	0.47785	2.999324	0.106241828266306	0.44867	2.760253	0.999811371049165	0.43459	0.626454	0.40138	0	0.80507	0.99744	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.26	2.21	0.27042	5.430000	0.66239	5.901000	0.50888	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8883:0.0:0.1117	9.430	0.37767	628	0.65206	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	38	chr19	38218620	.	C	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.404;DP=692;ExcessHet=0;FS=4.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.445;SOR=0.979	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	18	0	1	0
chr19	38352396	38352396	A	G	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon8:c.A961G:p.T321A,CATSPERG:NM_021185:exon8:c.A961G:p.T321A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0157900779445	.	.	4.256e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs764197189	1.429e-05	1.368e-05	8.457e-06	2.028e-05	8.834e-05	9.33e-06	7.58e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	1.019e-05	3.436e-05	8.834e-05	1.98e-05	1.972e-05	1.29e-05	2.704e-05	4.848e-05	5.27e-06	2.46e-06	8.03e-06	3.01e-06	4.848e-05	0	0	0	0	0	0	1.472e-05	0	0	0.115	0.28520	T	0.18	0.32675	T	0.86	0.53363	P	0.352	0.42883	B	0.149897	0.18003	N	0.534796	0.793755	0.29195	N	2.175	0.60977	M	1.36	0.34452	T	-2.71	0.57762	D	0.229	0.33250	-0.9614	0.38916	T	0.097	0.36367	T	10	0.21596742	0.38165	T	0.01579	0.36715	T	0.083	0.24192	0.334	0.32167	0.407357902709	0.40350	0.3758775763849674	0.37501	0.403179438654	0.41262	0.383374601603	0.22734	T	0.070092	0.33875	T	-0.337833	0.05540	T	-0.486382	0.23771	T	0.485686987638474	0.32106	T	0.514149	0.17180	T	0.093576476	0.21981	0.10754655	0.25892	0.093576476	0.21981	0.10754655	0.25891	-3.58	0.17568	T	.	.	0.129	0.32324	B	.;.;.	.;.;.	2.097187	0.26679	17.20	0.99441448935950094	0.64770	0.72180	0.35339	D	AEFDBI	0.228440	0.35210	N	0.145902305826406	0.48618	3.071882	0.123378785830496	0.45748	2.83244	0.120395014148404	0.16867	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	4.51	0.54589	2.798000	0.47578	2.408000	0.32627	-0.103000	0.15852	0.973000	0.34540	0.832000	0.27222	0.252000	0.23314	0.8283:0.0:0.0:0.1717	8.567	0.32708	613	0.66686	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1457.33	35	chr19	38352396	.	A	G	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.555;DP=759;ExcessHet=0;FS=8.381;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.053;SOR=1.204	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	38385530	38385530	G	C	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon3:c.C1732G:p.R578G	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0187253998177	0.0005	0.000798722	0.0010	0.0002	0.0011	0	0.0003	0.0010	0.0023	0.0019	0.0008344	129	154602	rs148338405	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	8.962e-05	0.0006	7.658e-05	0	0.0001	0.0017	0.0007	0.0008	0.0025	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0008	0.0006	0.0001	0	0.0005	0	0	0	0.0068	0.0007	0.0009	0.0017	1.0	0.00964	T	0.377	0.16134	T	0.0	0.02946	B	0.0	0.01387	B	0.265860	0.15223	N	0.485676	1	0.08975	N	-0.895	0.01383	N	.	.	.	-0.38	0.13418	N	0.064	0.03613	-0.9675	0.37713	T	0.019	0.07800	T	9	0.005235046	0.00114	T	0.018725	0.40888	T	0.047	0.12962	.	.	0.229924730088	0.22615	0.1561007211257281	0.15531	0.401460243881	0.41128	0.438708156347	0.30400	T	0.00375	0.03161	T	-0.551767	0.00285	T	-0.570278	0.15424	T	0.0122056076163717	0.00196	T	0.407159	0.10452	T	0.06075785	0.12503	0.05806986	0.10667	0.06075785	0.12503	0.05806986	0.10667	-2.796	0.08147	T	.	.	0.055	0.00368	B	.	.	0.363569	0.07360	3.981	0.85796995377976326	0.16118	0.00682	0.02924	N	AEFDBHCI	0.036751	0.04948	N	-1.4922867451348	0.01904	0.08355226	-1.413968683784	0.03112	0.1445218	0.999966187034908	0.48965	0.205752	0.04085	2	0.379588	0.06130	0	0.459711	0.06710	0	0.508809	0.08732	0	.	.	3.46	-0.564	0.11185	-1.493000	0.02403	-0.716000	0.07727	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.4065:0.4591:0.1343	5.31	0.15133	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05263	3315.83	33	chr19	38385530	.	G	C	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=887;ExcessHet=0.119;FS=0.432;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.072;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1258	17	0	2	0
chr19	38420176	38420176	C	T	exonic	RASGRP4	.	nonsynonymous SNV	RASGRP4:NM_001146202:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146203:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146204:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146205:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146206:exon5:c.G464A:p.R155Q,RASGRP4:NM_001146207:exon5:c.G464A:p.R155Q,RASGRP4:NM_170604:exon5:c.G464A:p.R155Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00291640606771	.	.	5.187e-05	0	0	0	0	9.318e-05	0	0	6.47e-05	10	154602	rs777144681	8.487e-05	8.482e-05	8.035e-05	8.943e-05	9.985e-05	7.212e-05	6.8e-05	8.398e-05	7.894e-05	8.962e-05	8.967e-05	0	2.52e-05	0	0	9.985e-05	6.628e-05	1.161e-05	7.885e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.497e-05	3.512e-05	7.909e-05	5.994e-05	2.413e-05	0	6.543e-05	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.07127	T	0.0	0.02946	B	0.0	0.01387	B	0.748677	0.09718	N	0.880885	0.999996	0.19072	N	-1.355	0.00654	N	1.6	0.28604	T	1.48	0.01051	N	0.078	0.07398	-0.9810	0.34771	T	0.017	0.06759	T	10	0.02298063	0.00589	T	0.002916	0.06162	T	0.029	0.06676	.	.	0.107399877778	0.10242	0.036467448180217014	0.03593	0.323523632181	0.34518	0.239557519555	0.02750	T	0.004856	0.06067	T	-0.491344	0.00639	T	-0.728223	0.04409	T	0.0150679821136439	0.00326	T	0.160884	0.16858	T	0.09885243	0.23320	0.10578535	0.25437	0.09885243	0.23320	0.10578535	0.25436	-2.455	0.12358	T	.	.	0.057	0.02829	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.568277	0.20082	14.58	0.46064531719505653	0.03662	0.00122	0.00764	N	AEFDBI	0.055392	0.10154	N	-1.28463339201206	0.03860	0.1731896	-1.10471383839737	0.07610	0.3708181	0.565295642523925	0.21448	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.34	2.2	0.26966	0.651000	0.24559	1.404000	0.26222	-0.169000	0.11342	0.163000	0.23839	1.000000	0.68203	0.865000	0.41091	0.0:0.1978:0.1794:0.6228	3.990	0.09023	604	0.67577	.;.;.;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1261.33	39	chr19	38420176	.	C	T	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.024;SOR=0.632	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1275,0,855	18	0	1	0
chr19	38566986	38566986	G	C	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon91:c.G13498C:p.D4500H,RYR1:NM_000540:exon92:c.G13513C:p.D4505H	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.0023	0.02	.	99159	not_specified|Malignant_hyperthermia_of_anesthesia|Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|RYR1-related_disorder|EMG:_myopathic_abnormalities|Generalized_muscle_weakness|Congenital_hip_dislocation|Congenital_muscular_dystrophy|not_provided|Myopathy,_progressive_axial_with_cataracts	MedGen:CN169374|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|MedGen:CN239331|Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726|Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674|Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555|Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242|MedGen:C3661900|MedGen:CN221568	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.663	0.349568962691	0.0033	0.00179712	0.0061	0.0016	0.0021	0	0.0024	0.0097	0.0030	0.0030	0.0032406	501	154602	rs150396398	0.0056	0.0055	0.0057	0.0055	0.0066	0.0055	0.0054	0.0064	0.0064	0.0009	0.0015	0.0047	0	0.0016	0.0005	0.0066	0.0045	0.0027	0.0033	0.0033	0.0034	0.0032	0.0056	0.0031	0.0030	0.0052	0.0050	0.0012	0	0.0019	0.0049	0	0.0012	0	0.0056	0.0014	0.0021	0.005	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.92359	D	0.000003	0.62929	U	0.000000	0.995788	0.42855	D	2.535	0.73915	M	-3.79	0.95663	D	-4.0	0.74051	D	0.773	0.77039	0.856	0.95107	D	0.884	0.96159	D	10	0.028258473	0.00960	T	0.349569	0.92232	D	0.663	0.87430	.	.	0.98892223866	0.98879	0.5731486778994425	0.57242	0.678197850904	0.59866	0.658598899841	0.61208	T	0.850588	0.96597	D	-0.0124184	0.49926	T	0.213111	0.83823	D	0.0525013663598184	0.05934	T	0.938806	0.76978	D	0.5693835	0.71026	0.47030425	0.69283	0.61485875	0.73489	0.4457878	0.67715	-7.162	0.55208	T	.	.	0.715	0.73595	P	.;.	.;.	3.359262	0.46366	22.3	0.46110370674987167	0.03669	0.79803	0.39617	D	AEFDBI	0.520208	0.54516	D	0.475060204841849	0.65638	4.847722	0.352072574367908	0.58631	4.034945	0.999884147794457	0.44867	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.93	3.93	0.44666	2.971000	0.48940	11.415000	0.92701	0.614000	0.49286	0.996000	0.39380	1.000000	0.68203	0.070000	0.16646	0.0:0.0:1.0:0.0	15.916	0.79304	659	0.61982	.;Ryanodine Receptor TM 4-6	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002064	0.000000	0.001362	0.000000	0.000000	0.000000	0.003185	0.003906	0.05263	1907.83	34	chr19	38566986	.	G	C	1907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=715;ExcessHet=0.119;FS=3.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.807;SOR=0.993	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1179	17	0	2	0
chr19	38710283	38710283	G	A	exonic	ACTN4	.	nonsynonymous SNV	ACTN4:NM_004924:exon8:c.G760A:p.E254K	Glomerulosclerosis, focal segmental, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919	0.719111265723	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1004686336	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.875e-05	0	1.799e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.019	0.59159	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-4.01	0.96370	D	-3.63	0.69714	D	0.944	0.95139	1.068	0.98536	D	0.935	0.97873	D	10	0.9742092	0.97124	D	0.719111	0.97726	D	0.919	0.97928	0.836	0.94356	0.997079320666	0.99704	0.9840768282707659	0.98400	2.63768877177	0.98388	0.917367100716	0.98116	D	0.948228	0.99235	D	0.416965	0.90860	D	0.530293	0.95237	D	0.991997420787811	0.82376	D	.	.	.	0.9309471	0.94331	0.90864885	0.95593	0.9309471	0.94332	0.90864885	0.95593	-12.781	0.88440	D	.	.	0.999	0.97850	P	.	.	5.436462	0.90883	32	0.99937525139932015	0.99661	0.99542	0.97254	D	AEFDBHI	0.957539	0.97677	D	0.941377354096548	0.93633	12.17108	0.927690213103862	0.96670	14.98974	0.999999999999963	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.750	0.91774	730	0.54327	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1709.33	33	chr19	38710283	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=774;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.44;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr19	38731145	38731145	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon19:c.G2036A:p.R679Q	.	424	1095	3	0	0	3	0.00136799	.	.	.	2348714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0121104230062	0.0002	.	0.0001	0.0002	0	0	0	6.439e-05	0	0.0005	0.0001035	16	154602	rs139019209	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0002	0	5.038e-05	0	0.0009	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.401e-05	0.0002	6.507e-05	5.319e-05	5.283e-05	2.834e-05	4.813e-05	0	0.0002	0	0	0	0.0068	8.819e-05	0.0014	0	0.01	0.56456	D	0.119	0.44501	T	0.76	0.43524	P	0.115	0.31843	B	0.003316	0.35125	N	0.301209	1	0.81001	D	1.79	0.46772	L	1.61	0.28391	T	-0.57	0.17210	N	0.432	0.47301	-1.0415	0.16860	T	0.052	0.22114	T	10	0.13091013	0.24914	T	0.01211	0.30386	T	0.051	0.14325	.	.	0.28492961333	0.28089	0.20739148982569808	0.20655	0.107864847928	0.12164	0.260474383831	0.04947	T	0.012539	0.11001	T	-0.395642	0.02473	T	-0.509897	0.21325	T	0.0422586064004795	0.04103	T	0.79692	0.44048	T	0.053111333	0.10001	0.04760646	0.06894	0.053111333	0.10001	0.04760646	0.06894	-7.032	0.54267	T	.	.	0.093	0.19879	B	.;.;.	.;.;.	1.337629	0.17438	13.16	0.99742731066342472	0.83629	0.23448	0.22079	N	AEFDBCI	0.086915	0.17624	N	-0.392754851500392	0.25727	1.398702	-0.477979946954952	0.22761	1.237895	0.999955885294484	0.48110	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.508809	0.08732	0	.	.	4.74	-1.21	0.09033	-0.690000	0.05240	-2.691000	0.03462	-0.253000	0.07101	0.385000	0.26047	0.000000	0.08366	0.124000	0.19330	0.0:0.5845:0.0:0.4155	8.114	0.30091	698	0.58074	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2383.33	33	chr19	38731145	.	C	T	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=840;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.256;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	18	0	1	0
chr19	38740200	38740200	C	A	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon5:c.G580T:p.V194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.151198528292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	4.104e-06	5.459e-06	1.38e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.83351	D	0.911	0.50336	P	0.492	0.47401	P	0.003640	0.34687	N	0.274601	0.924288	0.36771	D	0.92	0.23413	L	-2.23	0.87116	D	-1.32	0.32991	N	0.398	0.46274	0.093	0.84051	D	0.522	0.82153	D	10	0.6613567	0.70172	D	0.151199	0.83279	D	0.480	0.77077	0.726	0.86024	0.702229483744	0.69964	0.3294003350713022	0.32853	0.0689465900932	0.07720	0.643887162209	0.59117	T	0.090718	0.38644	T	0.0117579	0.53264	T	-0.220887	0.52652	T	0.742105960845947	0.42850	D	0.909209	0.67884	D	0.44839454	0.63940	0.39157018	0.63924	0.44839454	0.63940	0.39157018	0.63924	-6.501	0.50294	T	.	.	0.411	0.60193	A	.;.	.;.	3.378500	0.46720	22.3	0.99493011058124592	0.67573	0.95190	0.63770	D	AEFDBI	0.671395	0.63816	D	0.172735840748112	0.49893	3.184757	0.167057127751754	0.48051	3.026519	0.999999928756868	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.62	3.58	0.40133	2.014000	0.40571	1.326000	0.25636	0.512000	0.23348	1.000000	0.71638	0.800000	0.26941	0.763000	0.36255	0.0:0.9015:0.0:0.0985	10.314	0.42907	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	673.33	34	chr19	38740200	.	C	A	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.476;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,958	18	0	1	0
chr19	38808815	38808815	T	G	exonic	LGALS4	.	nonsynonymous SNV	LGALS4:NM_006149:exon3:c.A268C:p.K90Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0121606359453	.	.	4.118e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs757382792	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.132	0.34477	T	0.194	0.29493	B	0.036	0.22909	B	0.000768	0.41888	D	0.220692	0.792931	0.29204	N	1.745	0.45235	L	3.4	0.05642	T	-2.41	0.52938	N	0.229	0.25745	-1.0639	0.10807	T	0.020	0.08220	T	10	0.081411034	0.13324	T	0.012161	0.30482	T	0.084	0.24469	0.374	0.38667	0.335910606209	0.33200	0.29390903289798226	0.29303	0.177586304316	0.19982	0.518823981285	0.41461	T	0.261412	0.63289	T	-0.493649	0.00621	T	-0.65472	0.08626	T	0.122165806591511	0.14639	T	.	.	.	0.47413287	0.65544	0.2002848	0.43952	0.47413287	0.65544	0.2002848	0.43951	-6.386	0.49400	T	.	.	0.268	0.50213	B	.	.	3.050535	0.40926	21.3	0.98366573487658659	0.40699	0.19618	0.20730	N	AEFDBI	0.211355	0.33715	N	-0.207278233238125	0.32834	1.856	-0.198199015184695	0.31603	1.790045	0.463892390876992	0.20647	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	1.482000	0.35094	5.904000	0.50927	0.641000	0.52212	0.034000	0.20669	1.000000	0.68203	0.845000	0.39915	0.0:0.0:0.1581:0.8419	10.845	0.45944	583	0.69484	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	38	chr19	38808815	.	T	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.17;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.803;SOR=0.738	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1159	18	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.07895	4185.79	34	chr19	38815889	.	C	T	4185.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.65;DP=993;ExcessHet=0.3672;FS=0.822;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.61;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	16	0	3	0
chr19	38876462	38876462	C	T	exonic	RINL	.	nonsynonymous SNV	RINL:NM_001195833:exon3:c.G79A:p.D27N	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0126574457346	.	.	0.0003	0	0	0	0	0	0	0.0005	6.5e-06	1	154602	rs777246039	1.445e-05	1.368e-05	4.28e-06	2.49e-05	0.0002	9.44e-06	7.67e-06	0.0001	0.0001	0	0	0	0	0	0.0002	9.269e-07	1.727e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.444	0.13177	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	0.345	0.11182	N	1.9	0.23486	T	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.062594354	0.08026	T	0.012657	0.31427	T	.	.	.	.	0.751272253255	0.74902	0.3525306190000119	0.35167	0.120831655958	0.13605	0.31319758296	0.12390	T	0.001878	0.01289	T	-0.558806	0.00258	T	-0.742903	0.03770	T	.	.	.	.	.	.	0.061367232	0.12700	0.095297694	0.22595	0.061367232	0.12700	0.095297694	0.22594	-4.181	0.26476	T	.	.	0.102	0.18037	B	.	.	1.633036	0.20848	14.94	0.88532758497444886	0.18051	0.33530	0.24850	N	AEFBCI	0.192547	0.31970	N	.	.	.	.	.	.	0.999874801833783	0.44625	0.634777	0.41761	0	0.643519	0.57511	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	4.51	3.47	0.38831	1.199000	0.31842	-0.022000	0.12912	0.549000	0.26987	0.685000	0.28485	0.000000	0.08366	0.006000	0.07323	0.0:0.8971:0.0:0.1029	8.978	0.35107	616	0.66398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1354.33	38	chr19	38876462	.	C	T	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.509;DP=757;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.986;SOR=0.582	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	38893508	38893508	T	A	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon3:c.A21T:p.L7F,SIRT2:NM_030593:exon3:c.A21T:p.L7F,SIRT2:NM_012237:exon4:c.A132T:p.L44F	.	419	1089	12	2	0	16	0.00729262	.	.	.	704969	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0110	0.0107827	0.0077	0.0190	0.0032	0.0020	0.0007	0.0086	0.0071	0.0060	0.0075031	1160	154602	rs45535036	0.0078	0.0079	0.0079	0.0077	0.0173	0.0077	0.0077	0.0162	0.0157	0.0173	0.0036	0	0.0018	0.0015	0.0040	0.0086	0.0078	0.0056	0.0096	0.0096	0.0101	0.0091	0.0170	0.0092	0.0090	0.0160	0.0156	0.0170	0	0.0053	0	0.0031	0.0013	0.0034	0.0088	0.0085	0.0054	0.627	0.06502	T	0.589	0.08245	T	0.001	0.07471	B	0.005	0.16862	B	0.628531	0.10709	N	0.826605	0.998119	0.44524	D	0.2	0.09183	N	1.21	0.48769	T	0.57	0.11547	N	0.276	0.31253	-1.0503	0.14313	T	0.030	0.12804	T	10	0.0036471784	0.00067	T	.	.	.	0.161	0.41658	0.391	0.41443	0.139678290688	0.13603	0.40462940314711654	0.40378	0.23887650308	0.26443	0.387695014477	0.23345	T	0.11804	0.43856	T	-0.456061	0.01039	T	-0.413597	0.31810	T	0.00402687135974191	0.00043	T	.	.	.	0.15268978	0.34649	0.09309037	0.21972	0.15268978	0.34648	0.09309037	0.21971	-7.759	0.59416	D	.	.	0.106	0.19478	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.275245	0.29088	18.01	0.9688391060178797	0.31469	0.47111	0.27910	N	AEDBI	0.089627	0.18167	N	-0.900700129620411	0.10825	0.5192742	-0.781154816376222	0.14957	0.7842521	0.997731569887215	0.35965	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.26	0.518	0.16228	-0.022000	0.12424	0.904000	0.22573	-0.132000	0.13132	0.956000	0.33378	1.000000	0.68203	0.949000	0.49496	0.0:0.1369:0.5514:0.3117	8.856	0.34386	645	0.63593	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.010101	0.006793	0.000000	0.000000	0.017241	0.003049	0.007576	0.02632	657.33	34	chr19	38893508	.	T	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.132;DP=670;ExcessHet=0;FS=10.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.67;SOR=0.827	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	18	0	1	0
chr19	38910579	38910579	T	G	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.A695C:p.E232A	.	402	1118	2	0	0	2	0.000893655	.	.	.	3021703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0090	0	0	0.0441	0	0	0	0.0126	0.0004204	65	154602	rs369436329	0.0009	0.0008	0.0007	0.0010	0.0135	0.0008	0.0008	0.0125	0.0121	9.878e-05	0.0002	0	0.0135	0.0002	0.0002	0.0002	0.0016	0.0043	0.0008	0.0008	0.0007	0.0009	0.0132	0.0007	0.0006	0.0107	0.0097	9.633e-05	0	0.0001	0	0.0132	0	0	0.0003	0.0014	0.0050	.	.	.	0.125	0.38016	T	.	.	.	.	.	.	.	.	.	.	0.980144	0.25133	N	0.695	0.17993	N	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.0039379	0.00075	T	.	.	.	.	.	.	.	0.322230723748	0.31824	0.11514492099598841	0.11442	0.0176945112124	0.01731	.	.	.	0.064083	0.32344	T	-0.613127	0.00121	T	-0.643103	0.09444	T	.	.	.	.	.	.	0.0306499	0.02766	0.069701955	0.14717	0.0306499	0.02766	0.069701955	0.14717	-4.575	0.31856	T	.	.	0.068	0.07177	B	.;.	.;.	0.606388	0.09749	6.516	0.61663427829490991	0.06766	0.34489	0.25079	N	AEFDGBHCI	0.136259	0.25686	N	.	.	.	.	.	.	0.86039430472344	0.25214	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.86	2.78	0.31702	0.022000	0.13402	-0.627000	0.08144	-0.667000	0.04321	0.142000	0.23535	0.000000	0.08366	0.006000	0.07323	0.0:0.0916:0.1781:0.7304	5.455	0.15880	649	0.63102	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002336	0.000000	0.004367	0.000000	0.000000	0.000000	0.003968	0.000000	0.02632	1033.33	40	chr19	38910579	.	T	G	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.227;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-2.94;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	38910612	38910614	TGG	-	exonic	CCER2	.	nonframeshift deletion	CCER2:NM_001243212:exon4:c.660_662del:p.H220del	.	382	1122	17	1	0	19	0.00839593	.	.	.	2951508	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0247	0.0122	0	0.0204	0	0.0234	0.0417	0.0266	0.0003234	50	154602	rs144792695	0.0016	0.0046	0.0014	0.0018	0.0137	0.0016	0.0015	0.0127	0.0123	0.0013	0.0015	0.0011	0.0137	0.0005	0.0030	0.0009	0.0025	0.0059	0.0009	0.0010	0.0009	0.0010	0.0124	0.0008	0.0008	0.0100	0.0091	0.0005	0	0.0001	0	0.0124	0	0	0.0004	0.0024	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066023	0.120879	0.034562	0.037879	0.000000	0.064516	0.063492	0.047619	0.02632	1528.29	40	chr19	38910611	.	CTGG	C	1528.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.438;DP=747;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.552;SOR=0.894	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	38910746	38910747	TT	-	exonic	CCER2	.	frameshift deletion	CCER2:NM_001243212:exon4:c.527_528del:p.K176Rfs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402091003	9.407e-06	8.893e-06	8.57e-06	1.027e-05	1.206e-05	5.25e-06	4.04e-06	6.73e-06	5.18e-06	0	0	0	0	0	0	1.206e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1433.29	40	chr19	38910745	.	CTT	C	1433.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.204;DP=759;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.002;SOR=0.607	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	38910796	38910796	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G478A:p.E160K	.	387	1131	3	1	0	5	0.00220556	.	.	.	3021704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0023	0	0.0116	0.0185	0	0	0	0.0029	0.0005563	86	154602	rs371603378	0.0011	0.0011	0.0010	0.0012	0.0131	0.0011	0.0011	0.0121	0.0117	0.0002	8.42e-05	0	0.0131	5.951e-05	0.0012	0.0005	0.0018	0.0048	0.0008	0.0008	0.0008	0.0008	0.0131	0.0007	0.0007	0.0106	0.0097	7.214e-05	0	0.0001	0	0.0131	0	0	0.0003	0.0024	0.0050	.	.	.	0.135	0.44106	T	.	.	.	.	.	.	.	.	.	.	0.999388	0.21275	N	0.695	0.17993	N	.	.	.	.	.	.	0.311	0.35088	.	.	.	.	.	.	.	0.0044845045	0.00092	T	.	.	.	.	.	.	.	0.229924730088	0.22615	0.08604219450467972	0.08538	0.018677436614	0.01818	.	.	.	0.058105	0.30750	T	-0.435584	0.01373	T	-0.388075	0.34777	T	.	.	.	.	.	.	0.10189962	0.24072	0.24983399	0.50562	0.10189962	0.24072	0.24983399	0.50561	-4.149	0.26009	T	.	.	0.131	0.29505	B	.;.	.;.	2.409154	0.30961	18.60	0.88324720811012813	0.17888	0.25204	0.22628	N	AEFDBI	0.178076	0.30533	N	.	.	.	.	.	.	0.978115015617439	0.29888	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.11	0.47350	1.031000	0.29773	1.138000	0.24381	0.597000	0.34315	0.007000	0.17678	0.000000	0.08366	0.065000	0.16320	0.0:0.8401:0.1599:0.0	13.318	0.59855	649	0.63102	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002927	0.000000	0.002924	0.000000	0.000000	0.000000	0.006452	0.012821	0.02632	803.33	40	chr19	38910796	.	C	T	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.977;DP=762;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.012;SOR=0.85	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	38911082	38911082	C	G	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon4:c.G192C:p.E64D	.	423	1094	4	1	0	6	0.00273473	.	.	.	3021705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0	0	.	0	0	0	.	0	0.001921	50	26028	rs375222589	0.0011	0.0010	0.0010	0.0012	0.0130	0.0010	0.0010	0.0120	0.0116	0.0002	0.0002	0	0.0130	3.45e-05	0.0014	0.0005	0.0018	0.0046	0.0008	0.0008	0.0008	0.0008	0.0131	0.0007	0.0007	0.0106	0.0097	7.214e-05	0	0.0001	0	0.0131	0	0	0.0003	0.0024	0.0050	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	0.695	0.17993	N	.	.	.	.	.	.	0.545	0.57177	.	.	.	.	.	.	.	0.0061567724	0.00139	T	.	.	.	.	.	.	.	0.250579442822	0.24687	0.12348689037455093	0.12274	0.0974313828567	0.11002	.	.	.	0.074232	0.34889	T	-0.433619	0.01410	T	-0.385252	0.35108	T	.	.	.	.	.	.	0.07219858	0.16041	0.1392954	0.33241	0.07219858	0.16040	0.1392954	0.33240	-3.746	0.20000	T	.	.	0.495	0.64366	A	.	.	1.893358	0.24047	16.25	0.85266023587497641	0.15786	0.75870	0.37171	D	AEFBI	0.378361	0.46178	N	.	.	.	.	.	.	0.0140278678386402	0.12543	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	2.82	0.32061	0.465000	0.21715	0.242000	0.16320	0.599000	0.40250	0.013000	0.18845	0.984000	0.30665	0.012000	0.09680	0.0:0.8177:0.0:0.1823	8.300	0.31168	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	641.33	40	chr19	38911082	.	C	G	641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=680;ExcessHet=0;FS=2.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.444;SOR=1.129	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	38911828	38911828	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon2:c.G86A:p.R29K	.	382	1138	1	1	0	3	0.00131637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022496754663	.	0.000798722	0.0002	0.0042	0	0	0	0	0	0.0001	7.12e-05	11	154602	rs558631739	9.472e-05	8.961e-05	8.849e-05	0.0001	0.0006	8.127e-05	7.645e-05	0.0004	0.0004	3.167e-05	0.0006	0	0	0	0.0005	7.231e-05	0.0003	7.574e-05	0.0003	0.0003	0.0003	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	2.407e-05	0	0.0022	0	0	0	0	0.0001	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.118	0.10769	.	.	.	.	.	.	.	0.007925272	0.00180	T	0.022497	0.45395	T	.	.	.	.	0.289474373501	0.28556	0.12899263257918833	0.12824	0.023437749327	0.02374	.	.	.	0.007602	0.06996	T	-0.39249	0.02592	T	-0.479595	0.24489	T	.	.	.	.	.	.	0.115987144	0.27363	0.27946138	0.53914	0.115987144	0.27363	0.27946138	0.53913	-4.627	0.32509	T	.	.	0.169	0.37121	B	.	.	1.781154	0.22647	15.70	0.91707514157903058	0.21002	0.15140	0.18764	N	AEFDBHCI	0.191113	0.31832	N	.	.	.	.	.	.	0.209210232184989	0.18218	0.59774	0.34471	0	0.550933	0.16991	0	0.536957	0.11973	0	0.63947	0.58350	0	.	.	4.71	3.59	0.40253	0.627000	0.24200	2.198000	0.31263	0.599000	0.40250	0.056000	0.21631	0.186000	0.23459	0.652000	0.32748	0.0:0.7996:0.2004:0.0	10.283	0.42732	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	35	chr19	38911828	.	C	T	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.331;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	18	0	1	0
chr19	38915624	38915624	-	CCAGGCAGC	exonic	SARS2	.	nonframeshift insertion	SARS2:NM_017827:exon16:c.1538_1539insGCTGCCTGG:p.G513_Q514insLPG,SARS2:NM_001145901:exon17:c.1544_1545insGCTGCCTGG:p.G515_Q516insLPG	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	1	1493	28	0	0	28	0.00928998	.	.	.	211871	SARS2-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	0.00259585	0.0023	0.0004	0.0012	0	0.0014	0.0018	0.0022	0.0081	0.0015368	40	26028	rs551671819	0.0023	0.0023	0.0022	0.0024	0.0077	0.0023	0.0022	0.0072	0.0070	0.0004	0.0013	0.0016	2.519e-05	0.0021	0.0057	0.0021	0.0026	0.0077	0.0015	0.0016	0.0012	0.0019	0.0071	0.0014	0.0013	0.0052	0.0045	9.624e-05	0	0.0008	0.0023	0	0.0025	0.0068	0.0022	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3030.29	35	chr19	38915624	.	G	GCCAGGCAGC	3030.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=1319;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=-1.417;SOR=0.836	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	38930478	38930478	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C259T:p.P87S,SARS2:NM_017827:exon1:c.C259T:p.P87S	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0103298220313	.	0.000399361	8.824e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs562251304	2.076e-05	2.121e-05	1.647e-05	2.513e-05	0.0002	1.473e-05	1.278e-05	0.0001	9.472e-05	0	2.262e-05	0	0	0	0	8.167e-06	6.712e-05	0.0002	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.324	0.13392	T	0.452	0.12884	T	0.029	0.19866	B	0.015	0.17295	B	0.025681	0.26048	N	0.388897	.	.	.	2.56	0.74772	M	1.06	0.39781	T	-0.86	0.23372	N	0.19	0.32481	-0.7562	0.57609	T	0.120	0.41929	T	9	0.061112106	0.07613	T	0.01033	0.26741	T	0.101	0.28911	0.265	0.21103	0.553103360211	0.54968	0.3034281365314339	0.30255	0.371908126275	0.38695	0.457498967648	0.32968	T	0.057175	0.30492	T	-0.383663	0.02953	T	-0.478363	0.24620	T	0.0651913909668885	0.07959	T	.	.	.	0.06038551	0.12385	0.083673365	0.19194	0.06038551	0.12384	0.083673365	0.19194	-4.823	0.34858	T	.	.	0.084	0.15385	B	.;.;.	.;.;.	2.545591	0.32935	19.19	0.99315797146368501	0.59166	0.81109	0.40583	D	ALL	0.323352	0.42557	N	0.189477939934372	0.50695	3.257013	0.256707341331622	0.53030	3.474261	1.0	0.98316	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	4.45	0.53365	3.641000	0.54094	5.415000	0.48549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0894:0.0:0.9106:0.0	10.486	0.43909	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	868.33	33	chr19	38930478	.	G	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.192;DP=702;ExcessHet=0;FS=9.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.171;SOR=2.03	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	18	0	1	0
chr19	38932413	38932413	C	G	exonic	MRPS12	.	nonsynonymous SNV	MRPS12:NM_021107:exon2:c.C130G:p.R44G,MRPS12:NM_033362:exon3:c.C130G:p.R44G,MRPS12:NM_033363:exon3:c.C130G:p.R44G	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0002	0.00339457	0.0014	0.0003	0	0.0087	0	6.316e-05	0.0024	0.0052	0.0012936	200	154602	rs147007310	0.0007	0.0007	0.0006	0.0008	0.0127	0.0007	0.0007	0.0118	0.0114	0.0001	4.519e-05	0	0.0127	0	0.0002	0.0001	0.0015	0.0041	0.0007	0.0007	0.0007	0.0008	0.0139	0.0006	0.0006	0.0113	0.0104	0.0001	0	0.0002	0	0.0139	0	0	8.818e-05	0.0014	0.0050	0.032	0.44694	D	0.055	0.46862	T	0.028	0.19712	B	0.044	0.24394	B	0.231514	0.03521	N	1.664740	0.999709	0.20638	N	1.9	0.50570	L	0.86	0.46777	T	-3.64	0.69835	D	0.139	0.13769	-1.0439	0.16148	T	0.090	0.34683	T	10	0.004025489	0.00078	T	.	.	.	0.032	0.07718	.	.	0.406120066682	0.40223	0.26826693982523403	0.26739	0.67907236185	0.59917	0.230556041002	0.02009	T	0.432773	0.78043	T	-0.574626	0.00208	T	-0.587156	0.13912	T	0.0114266748744791	0.00171	T	.	.	.	0.10511352	0.24851	0.09503791	0.22522	0.10511352	0.24851	0.09503791	0.22522	-5.433	0.41236	T	.	.	0.125	0.28406	B	.;.;.	.;.;.	-0.033590	0.04055	0.941	0.95937654274165862	0.28233	0.14971	0.18679	N	AEFBCI	0.268456	0.38495	N	-0.970398466655681	0.09240	0.4364978	-1.01452471046837	0.09466	0.4710707	0.999991777552095	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.93	-2.05	0.06916	-0.851000	0.04421	-1.837000	0.04636	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1103:0.4789:0.1139:0.297	3.255	0.06424	675	0.60470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1767.33	36	chr19	38932413	.	C	G	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=798;ExcessHet=0;FS=11.314;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.024;SOR=1.259	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	18	0	1	0
chr19	39025499	39025499	T	G	exonic	FBXO27	.	nonsynonymous SNV	FBXO27:NM_178820:exon6:c.A764C:p.H255P	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	.	0.00219649	0.0022	0.0002	0.0008	0	0	0.0012	0.0033	0.0102	0.0019275	298	154602	rs201679838	0.0014	0.0014	0.0010	0.0017	0.0112	0.0013	0.0013	0.0106	0.0103	0.0001	0.0005	0.0001	0	0	0.0064	0.0008	0.0016	0.0112	0.0009	0.0009	0.0007	0.0012	0.0098	0.0008	0.0008	0.0075	0.0068	0.0002	0	0.0009	0	0.0002	0	0.0170	0.0009	0.0024	0.0098	0.006	0.61437	D	0.005	0.72224	D	1.0	0.90584	D	0.986	0.76916	D	0.000026	0.55875	D	0.000000	0.680208	0.33226	D	3.145	0.88303	M	0.82	0.48142	T	-8.19	0.96809	D	0.638	0.65844	-0.1389	0.79192	T	0.308	0.67877	T	10	0.013860136	0.00293	T	.	.	.	0.339	0.66106	.	.	0.734698272752	0.73233	0.8570219179509098	0.85665	1.7763326729	0.91342	0.405652433634	0.25855	T	0.365488	0.73089	T	-0.233725	0.16159	T	-0.0991116	0.63467	T	0.150376725682298	0.17133	T	.	.	.	0.8998425	0.91369	0.75833064	0.85720	0.8998425	0.91370	0.75833064	0.85721	-16.471	0.98385	D	.	.	0.821	0.78581	P	.;.;.	.;.;.	4.209569	0.63584	24.6	0.98710831052415149	0.45054	0.91584	0.53835	D	AEFBI	0.537369	0.55520	D	0.58409716787838	0.72183	5.765593	0.485166500003574	0.67008	5.026692	0.757293656512461	0.23454	0.732398	0.92422	0	0.480063	0.06835	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	4.2	4.2	0.48814	3.274000	0.51334	-3.320000	0.02879	0.605000	0.46263	0.994000	0.38300	0.000000	0.08366	0.832000	0.39227	0.0:0.0:0.0:1.0	9.846	0.40196	592	0.68746	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	1380.33	41	chr19	39025499	.	T	G	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=820;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.119;SOR=1.121	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1394,0,1304	18	0	1	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.02632	1537.33	50	chr19	39244094	.	T	C	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=896;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.39;SOR=0.619	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr19	39247152	39247152	T	C	exonic	IFNL4	.	unknown	UNKNOWN	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	0	0	.	.	0.0001921	5	26028	rs779150519	0.0005	0.0004	0.0005	0.0005	0.0011	0.0005	0.0005	0.0008	0.0006	0.0001	0	0	3.77e-05	0.0003	0	0.0005	0.0009	0.0011	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0002	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	258.33	36	chr19	39247152	.	T	C	258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=630;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.726;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	18	0	1	0
chr19	39247929	39247929	G	A	exonic	IFNL4	.	unknown	UNKNOWN	.	486	1034	2	0	0	2	0.000966184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs530084581	0.0001	0.0001	0.0001	0.0001	0.0051	9.902e-05	9.229e-05	0.0043	0.0040	0	0	0	0	0	0.0010	1.305e-05	0.0003	0.0051	0.0002	0.0002	8.991e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.0055647194	0.00123	T	.	.	.	.	.	.	.	0.226586394389	0.22295	.	.	.	.	.	.	.	0.007248	0.06665	T	-0.299664	0.08692	T	-0.668223	0.07722	T	.	.	.	0.485551	0.14815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.38245	B	.	.	2.081343	0.26473	17.13	0.9550865944418947	0.27110	0.09440	0.15195	N	AEFDBHI	0.036229	0.04793	N	.	.	.	.	.	.	0.998077995996677	0.36393	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.109499	0.03221	0	.	.	3.62	2.47	0.29113	1.132000	0.31031	.	.	0.361000	0.20101	0.004000	0.16614	0.002000	0.18203	0.026000	0.12556	0.0:0.0:0.7738:0.2262	8.659	0.33243	593	0.68665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	620.33	44	chr19	39247929	.	G	A	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.551;DP=701;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.17;SOR=0.611	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	39268683	39268683	C	G	exonic	IFNL2	.	nonsynonymous SNV	IFNL2:NM_172138:exon2:c.C17G:p.T6S	.	394	1069	58	1	0	60	0.0272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0060	0.0103834	0.0084	0.0015	0.0049	0.0001	0.0005	0.0081	0.0143	0.0235	0.0082405	1274	154602	rs142031126	0.0087	0.0087	0.0081	0.0092	0.0232	0.0086	0.0085	0.0223	0.0220	0.0013	0.0052	0.0127	2.519e-05	0.0011	0.0217	0.0084	0.0089	0.0232	0.0062	0.0062	0.0062	0.0062	0.0251	0.0059	0.0058	0.0214	0.0201	0.0016	0	0.0071	0.0095	0	0.0006	0.0170	0.0086	0.0071	0.0251	0.346	0.12469	T	0.272	0.22223	T	0.017	0.17573	B	0.036	0.22909	B	0.402935	0.04545	N	1.539810	1	0.08975	N	0.205	0.09354	N	2.55	0.13795	T	0.16	0.05217	N	0.09	0.06854	-0.9760	0.35904	T	0.014	0.05369	T	10	0.0037507713	0.00070	T	.	.	.	0.034	0.08419	0.152	0.05544	0.104622674875	0.10061	0.10945525285505907	0.10874	0.282123927823	0.30676	0.33310854435	0.15404	T	0.006617	0.06047	T	-0.721941	0.00027	T	-0.792209	0.02105	T	0.00170357977358575	0.00017	T	0.19678	0.02180	T	0.022907108	0.00988	0.02842597	0.01077	0.022907108	0.00988	0.02842597	0.01077	-3.021	0.10409	T	.	.	0.085	0.10111	B	.	.	-0.061201	0.03878	0.845	0.56440122075619437	0.05553	0.03824	0.09165	N	AEFDGI	0.022517	0.01135	N	-1.1275330983598	0.06157	0.282706	-1.1155589654113	0.07402	0.3599391	0.00107984509852559	0.08194	0.525926	0.21836	0	0.615948	0.52940	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.29	2.18	0.26813	0.602000	0.23833	.	.	-2.382000	0.00299	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.7638:0.2362:0.0	8.711	0.33543	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013575	0.000000	0.016349	0.008547	0.000000	0.000000	0.026316	0.027344	0.05263	5102.83	33	chr19	39268683	.	C	G	5102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=1029;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=-1;QD=12.36;ReadPosRankSum=2.71;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	17	0	2	0
chr19	39393633	39393633	G	C	exonic	MED29	.	nonsynonymous SNV	MED29:NM_001317770:exon3:c.G356C:p.C119S,MED29:NM_017592:exon3:c.G356C:p.C119S	.	437	1069	16	0	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0177117568816	0.0002	0.000599042	0.0012	9.632e-05	0.0004	0	0	0.0005	0.0022	0.0064	0.0009961	154	154602	rs147500056	0.0006	0.0006	0.0004	0.0009	0.0067	0.0006	0.0006	0.0062	0.0061	2.987e-05	0.0005	0.0038	0	0	0.0035	0.0001	0.0009	0.0067	0.0005	0.0005	0.0004	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0.0034	0.0004	0.0014	0.0060	0.496	0.07846	T	0.543	0.11656	T	0.001	0.77913	B	0.005	0.88582	B	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	1.445	0.36358	L	.	.	.	0.21	0.04776	N	0.615	0.72120	-0.7194	0.59493	T	0.274	0.64618	T	9	0.012360781	0.00266	T	0.017712	0.39515	T	0.198	0.48105	0.541	0.65304	0.741901172988	0.73958	0.3535081971944932	0.35264	0.315891958324	0.33863	0.887770056725	0.94980	D	0.052754	0.29251	T	-0.138456	0.30136	T	0.0309529	0.72340	D	0.450564682483673	0.30818	T	0.782722	0.58632	T	0.5822886	0.71733	0.4750711	0.69580	0.5822886	0.71734	0.4750711	0.69580	-1.745	0.02350	T	.	.	0.746	0.77475	P	.;.;.;.;.	.;.;.;.;.	3.508065	0.49109	22.7	0.77778989553409417	0.12018	0.98084	0.79462	D	AEFBI	0.947217	0.95753	D	0.127906866548195	0.47767	2.997934	0.186124417103867	0.49086	3.116127	0.999999999967316	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	7.455000	0.79783	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	14.492	0.67235	701	0.57775	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.000000	0.008152	0.000000	0.000000	0.000000	0.012195	0.011450	0.02632	1145.33	34	chr19	39393633	.	G	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.777;DP=711;ExcessHet=0;FS=3.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.804;SOR=0.385	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr19	39423868	39423868	C	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon19:c.C2558T:p.P853L,PLEKHG2:NM_022835:exon19:c.C2735T:p.P912L	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00582969969954	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs773461401	2.189e-05	2.189e-05	1.497e-05	2.888e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	0	0	5.038e-05	0	0.0009	2.698e-06	3.311e-05	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	1.0	0.00964	T	0.193	0.28210	T	0.0	0.07471	B	0.0	0.01387	B	0.315736	0.04043	N	1.586680	1	0.08975	N	-0.76	0.01693	N	0.18	0.60361	T	-0.81	0.22294	N	0.056	0.02759	-1.0202	0.23649	T	0.033	0.13986	T	10	0.024253994	0.00661	T	0.00583	0.15161	T	0.153	0.40148	0.131	0.03577	0.139678290688	0.13603	0.05144324159354775	0.05086	.	.	0.216956108809	0.01141	T	0.005115	0.04549	T	-0.35828	0.04228	T	-0.441902	0.28596	T	0.0232427604652559	0.01052	T	0.677732	0.28733	T	0.016985962	0.00237	0.029103825	0.01212	0.016985962	0.00237	0.029103825	0.01212	-2.612	0.06595	T	.	.	0.061	0.01810	B	.;.	.;.	-0.525423	0.01788	0.138	0.29732933997882566	0.01592	0.01309	0.04537	N	AEFBCI	0.032417	0.03657	N	-1.19120991678054	0.05133	0.2332453	-1.30369535964429	0.04382	0.2065773	0.999804056597766	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.94	-2.8	0.05477	-0.554000	0.06097	.	.	-1.698000	0.00761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1481:0.2909:0.3038:0.2572	1.236	0.01834	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1524.33	138	chr19	39423868	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=1694;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.58;SOR=0.739	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr19	39515727	39515727	C	T	exonic	SELENOV	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00614246297568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161209830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.138	0.27080	T	0.885	0.04358	T	0.913	0.50474	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.57	0.21644	N	0.126	0.11912	-1.0464	0.15418	T	0.046	0.19800	T	9	0.0797109	0.12853	T	0.006142	0.16082	T	0.019	0.03383	0.251	0.18912	0.0401082797425	0.02173	.	.	0.651761740419	0.58396	0.392920196056	0.24081	T	0.013943	0.11965	T	-0.28833	0.09805	T	-0.651942	0.08819	T	0.322167806840119	0.25910	T	0.524448	0.17180	T	0.049380515	0.08760	0.07279912	0.15747	0.049380515	0.08759	0.07279912	0.15747	.	.	.	.	.	0.109	0.27343	B	.;.;.	.;.;.	2.029558	0.25795	16.89	0.99662240044346206	0.78011	0.02162	0.06348	N	AEFDBCI	0.030069	0.02958	N	-0.816984327039144	0.12877	0.630536	-0.993898483888671	0.09922	0.4965017	0.999990921887465	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	2.79	-0.917	0.09952	-0.046000	0.11937	.	.	0.440000	0.21072	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4245:0.4387:0.1368	4.798	0.12647	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	34	chr19	39515727	.	C	T	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.665;DP=725;ExcessHet=0;FS=48.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.501;SOR=5.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	18	0	1	0
chr19	39660505	39660505	C	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon4:c.C414A:p.N138K	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000707563602261	.	0.00139776	0.0041	0.0006	0.0086	0	0	0.0025	0.0053	0.0066	0.0007684	20	26028	rs186797209	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0052	0.0050	0	0.0009	0.0024	0	0	0.0016	0.0002	0.0011	0.0056	0.0007	0.0007	0.0007	0.0007	0.0044	0.0006	0.0005	0.0029	0.0025	2.406e-05	0.0242	0.0007	0.0032	0	0	0.0102	0.0005	0.0005	0.0044	0.243	0.17526	T	0.49	0.11551	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.02	0.07299	N	0.077	0.05162	-0.9831	0.34281	T	0.020	0.08407	T	8	0.0045831203	0.00095	T	7.08E-4	0.00454	T	0.013	0.01715	0.313	0.28774	0.0297737177859	0.01360	0.23125702305543835	0.23040	0.0323160249069	0.03370	0.454158842564	0.32512	T	.	.	.	-0.761551	0.00015	T	-0.864911	0.00792	T	0.00739835027676296	0.00085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.	.	-0.668643	0.01395	0.081	0.36638375186401068	0.02368	0.00881	0.03477	N	AEFGBI	0.032810	0.03777	N	-1.23676114324858	0.04477	0.2021408	-1.30902499869823	0.04312	0.20314	0.00313003011755968	0.09942	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.647	0.647	0.16968	-2.155000	0.01371	.	.	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002604	0.000000	0.001366	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1515.33	35	chr19	39660505	.	C	A	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=759;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.311;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1341	18	0	1	0
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1897.33	75	chr19	39734391	.	G	C	1897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.281;DP=1118;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.614;SOR=0.653	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	0	1	0
chr19	39830764	39830764	A	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon3:c.T83C:p.L28P,DYRK1B:NM_006483:exon3:c.T83C:p.L28P,DYRK1B:NM_006484:exon3:c.T83C:p.L28P	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	422	1070	27	3	0	33	0.0151864	.	.	.	716444	not_provided|not_specified|DYRK1B-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0019	0.00399361	0.0046	0.0003	0.0032	0.0001	0	0.0021	0.0058	0.0237	0.0040038	619	154602	rs34587974	0.0027	0.0027	0.0021	0.0034	0.0218	0.0027	0.0026	0.0210	0.0207	0.0003	0.0021	0.0025	0.0001	0.0002	0.0099	0.0016	0.0027	0.0218	0.0020	0.0020	0.0018	0.0021	0.0201	0.0018	0.0017	0.0168	0.0156	0.0004	0.0263	0.0021	0.0032	0.0004	9.409e-05	0.0136	0.0016	0.0024	0.0201	0.054	0.39820	T	0.211	0.38742	T	0.94	0.56013	P	0.36	0.49647	B	0.004706	0.33466	N	0.218004	0.999998	0.58761	D	1.15	0.29295	L	0.51	0.55775	T	-1.43	0.35194	N	0.321	0.52297	-0.9494	0.41075	T	0.152	0.48118	T	10	0.008390218	0.00190	T	.	.	.	0.086	0.25016	.	.	0.696307968527	0.69369	0.5615938848674867	0.56086	1.76035964692	0.91122	0.632241129875	0.57463	T	0.105355	0.41575	T	-0.347917	0.04860	T	-0.25495	0.49326	T	0.0441409249677052	0.04446	T	.	.	.	0.3156542	0.54271	0.24862657	0.50417	0.31791952	0.54463	0.25629076	0.51325	-2.796	0.08147	T	.	.	0.128	0.30184	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.735697	0.76313	26.5	0.9984869095352803	0.92838	0.97905	0.78016	D	AEFDBHI	0.804091	0.72905	D	0.230180320715182	0.52667	3.439396	0.292507250458728	0.55099	3.673524	0.99999944425382	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.343000	0.59128	.	.	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.545	0.55543	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007568	0.000000	0.002717	0.002924	0.000000	0.008621	0.012195	0.022727	0.05263	2212.83	35	chr19	39830764	.	A	G	2212.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.096;DP=784;ExcessHet=0.119;FS=9.647;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.64;SOR=1.366	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1274,0,1214	17	0	2	0
chr19	39875630	39875630	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.C10361G:p.T3454S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0122189618179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1847.33	35	chr19	39875630	.	G	C	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=1229;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.74;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.625;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	18	0	1	0
chr19	39875925	39875925	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.G10066A:p.G3356S	.	411	1095	16	0	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	7.7e-05	0.00279553	0.0023	0	0.0003	0	0	0.0002	0.0063	0.0144	0.0018305	283	154602	rs200280608	0.0011	0.0010	0.0006	0.0017	0.0149	0.0011	0.0011	0.0142	0.0139	7.603e-05	2.684e-05	5.93e-05	0	0	0.0025	0.0001	0.0010	0.0149	0.0006	0.0006	0.0004	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	9.423e-05	0.0034	0.0001	0	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003043	0.000000	0.001359	0.002941	0.000000	0.000000	0.009259	0.007692	0.05263	2805.83	46	chr19	39875925	.	C	T	2805.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.52;DP=1456;ExcessHet=0.119;FS=4.394;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.046;SOR=0.48	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	17	0	2	0
chr19	39877853	39877860	AGATGAAA	-	exonic	FCGBP	.	frameshift deletion	FCGBP:NM_003890:exon21:c.9245_9252del:p.L3082Rfs*16	.	471	1043	7	1	0	9	0.00429594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0152	0.0097	0.0163	0.0060	0.0176	0.0155	0.0161	0.0205	.	.	.	rs779214005	2.721e-05	0.0013	1.741e-05	3.717e-05	0.0001	1.95e-05	1.699e-05	4.935e-05	3.629e-05	0	0.0001	0	0	6.429e-05	0	1.802e-05	2.389e-05	0.0001	5.593e-05	0.0012	4.107e-05	7.143e-05	0.0001	2.701e-05	1.934e-05	2.419e-05	9.66e-06	2.459e-05	0.0012	0.0001	0	0	0.0001	0	4.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	304.9	6	chr19	39877852	.	CAGATGAAA	C	304.9	.	AC=3;AF=0.079;AN=38;DP=2501;ExcessHet=0;FS=5.229;InbreedingCoeff=0.6326;MLEAC=3;MLEAF=0.079;MQ=38.27;MQRankSum=-0.319;QD=30.49;SOR=1.996	GT:AD:DP:GQ:PL	0/0:179,0:179:99:0,120,1800	17	1	1	0
chr19	39877858	39877858	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	109802.0	6	chr19	39877858	.	A	*	109802.0	.	AC=3;AF=0.079;AN=38;DP=2584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.91;QD=29.39;SOR=0.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:175:99:1|1:39877858_A_C:7807,7834,8185:39877858	17	1	1	0
chr19	39877859	39877859	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	108823.0	6	chr19	39877859	.	A	*	108823.0	.	AC=3;AF=0.079;AN=38;DP=2581;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.73;QD=27.81;SOR=0.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,3:178:99:1|1:39877858_A_C:7807,7687,7797:39877858	17	1	1	0
chr19	39883323	39883323	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8512G:p.L2838V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00158768810809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535e-06	7.53e-06	5.045e-06	1.213e-05	0.0007	4.32e-06	3.15e-06	0.0002	9.856e-05	0	0	0	0	0	0.0007	6.442e-06	2.362e-05	0	0	1.99e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3799.33	69	chr19	39883323	.	G	C	3799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.049;DP=1995;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.81;MQRankSum=-4.895;QD=6.56;ReadPosRankSum=1.14;SOR=0.762	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr19	39883445	39883445	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8390T:p.P2797L	.	.	.	.	.	.	.	.	0.0034	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00184330694756	.	0.000199681	0.0001	0.0008	0	0	0	0	0	0	3.84e-05	1	26028	rs571794043	8.187e-05	6.708e-05	3.896e-05	0.0001	0.0010	6.837e-05	6.35e-05	0.0008	0.0008	0.0002	3.426e-05	0	0	0	0.0002	7.562e-06	7.158e-05	0.0010	3.424e-05	3.311e-05	4.012e-05	2.807e-05	0.0002	1.301e-05	8.27e-06	2.165e-05	1.1e-05	8.169e-05	0	0	0	0	0	0	1.483e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3127.33	69	chr19	39883445	.	G	A	3127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=1554;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.44;MQRankSum=-2.261;QD=11.37;ReadPosRankSum=2.68;SOR=0.617	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	981.83	72	chr19	39886548	.	G	A	981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.335;DP=1212;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.2;MQRankSum=0.492;QD=6.1;ReadPosRankSum=-0.818;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	17	0	2	0
chr19	39893494	39893494	A	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon14:c.T5873G:p.V1958G	.	381	1124	17	0	0	17	0.00750552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0030024250845	0.0007	.	0.0026	0.0004	0.0019	0.0014	0	0.0036	0.0011	0.0025	0.0008452	22	26028	rs143773902	0.0023	0.0033	0.0023	0.0023	0.0034	0.0022	0.0022	0.0024	0.0024	0.0003	0.0016	0.0019	0.0013	0.0002	0.0034	0.0025	0.0031	0.0016	0.0021	0.0029	0.0021	0.0020	0.0042	0.0019	0.0018	0.0034	0.0031	0.0005	0	0.0042	0.0014	0.0010	0.0003	0.0034	0.0031	0.0047	0.0006	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999928	0.19486	N	.	.	.	.	.	.	.	.	.	.	.	-0.7155	0.59683	T	0.353	0.71658	T	9	0.017500848	0.00374	T	0.028083	0.50815	D	.	.	.	.	0.178374595973	0.17440	.	.	.	.	0.435142397881	0.29913	T	0.071716	0.34276	T	-0.515382	0.00468	T	-0.51739	0.20559	T	0.029716486738236	0.01945	T	0.207979	0.02486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	2.468404	0.31809	18.85	0.98694717219059647	0.44809	0.08467	0.14392	N	AEFI	0.165963	0.29251	N	-0.390168039957649	0.25818	1.404377	-0.535494584319135	0.21192	1.145263	1.19211957398794E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.44	-0.101	0.12955	-0.481000	0.06631	.	.	0.369000	0.20257	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5058:0.0:0.313:0.1812	3.220	0.06315	720	0.55521	Trypsin Inhibitor-like, cysteine rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006403	0.000000	0.009511	0.000000	0.000000	0.000000	0.009375	0.007634	0.02632	203.33	56	chr19	39893494	.	A	C	203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.497;DP=1075;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.69;MQRankSum=-0.268;QD=1.28;ReadPosRankSum=0.89;SOR=0.853	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr19	39894036	39894036	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon13:c.G5725T:p.V1909F	.	412	1093	17	0	0	17	0.00771675	.	.	.	2367492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.00284674624318	.	0.000199681	0	.	.	.	.	0	.	.	0.0001537	4	26028	rs550227994	0.0057	0.0048	0.0057	0.0058	0.0125	0.0056	0.0056	0.0099	0.0090	0.0010	0.0019	0.0084	0	0.0006	0.0125	0.0065	0.0049	0.0031	0.0035	0.0039	0.0037	0.0033	0.0059	0.0033	0.0032	0.0054	0.0052	0.0010	0	0.0024	0.0072	0	0.0008	0.0170	0.0059	0.0038	0.0014	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.995013	0.23391	N	.	.	.	.	.	.	.	.	.	.	.	-0.5352	0.67345	T	0.524	0.82273	D	9	0.011399686	0.00249	T	0.021154	0.43885	T	.	.	.	.	0.112648838833	0.10856	.	.	.	.	0.753210425377	0.74920	T	0.083963	0.37173	T	-0.377916	0.03211	T	-0.313292	0.43304	T	0.0338620387180759	0.02614	T	0.708829	0.31953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.55243	B	.	.	2.934333	0.38996	20.9	0.98959280823795115	0.49305	0.11887	0.16925	N	AEFI	0.117945	0.23083	N	-0.334312063072346	0.27853	1.531504	-0.607476441862748	0.19301	1.034911	1.48260693903531E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.31	1.22	0.20300	-0.251000	0.08837	.	.	0.425000	0.20843	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.2447:0.5981:0.0:0.1572	3.514	0.07278	722	0.55239	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1420.33	42	chr19	39894036	.	C	A	1420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=3816;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.8;MQRankSum=3.36;QD=4.83;ReadPosRankSum=0.631;SOR=0.497	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	18	0	1	0
chr19	39896140	39896140	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon12:c.C4931T:p.P1644L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0134566044578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.238e-06	1.443e-05	2.223e-06	2.253e-06	7.934e-05	3.7e-07	1.4e-07	1.313e-05	4.91e-06	0	7.934e-05	0	0	0	0	0	0	0	8.851e-06	1.333e-05	0	1.84e-05	1.858e-05	0	0	.	.	0	0	0	0	0	0	0	1.858e-05	0	0	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0611	0.11483	T	0.031	0.13418	T	10	0.26749802	0.44262	T	0.013457	0.32880	T	.	.	.	.	0.29385284311	0.29004	.	.	.	.	0.500284850597	0.38868	T	0.06823	0.33405	T	-0.078472	0.39963	T	-0.350496	0.39149	T	0.850658595561981	0.50222	D	0.734627	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.22969	B	.	.	2.217543	0.28299	17.75	0.9609991845860707	0.28709	0.89804	0.50508	D	AEFI	0.537309	0.55517	D	-0.288861833698804	0.29578	1.641479	-0.319062857819146	0.27483	1.525338	8.20664232865637E-4	0.07857	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.36	2.36	0.28258	3.077000	0.49787	.	.	0.590000	0.31872	1.000000	0.71638	0.190000	0.23489	0.454000	0.27984	0.0:0.2421:0.7579:0.0	8.493	0.32275	725	0.54935	VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	52.36	7	chr19	39896140	.	G	A	52.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=35.36;MQRankSum=-1.616;QD=4.76;ReadPosRankSum=-1.501;SOR=0.495	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,370	18	0	1	0
chr19	39902800	39902800	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon9:c.C4028T:p.A1343V	.	455	1049	18	0	0	18	0.00850662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00285830085637	0.0053	0.00938498	0.0119	0.0013	0.0034	0.0003	0.0023	0.0099	0.0220	0.0370	0.0084475	1306	154602	rs1348012630	2.922e-05	0.0006	2.392e-05	3.464e-05	0.0014	2.05e-05	1.772e-05	0.0005	0.0003	0	0	0	0	0	0.0014	1.787e-05	5.534e-05	0.0001	0.0005	0.0029	0.0004	0.0006	0.0054	0.0004	0.0004	0.0037	0.0032	7.257e-05	0	0.0003	0.0006	0	0.0002	0	0.0005	0.0005	0.0054	.	.	.	0.267	0.22561	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.7173	0.59595	T	0.255	0.62552	T	9	0.17046368	0.31710	T	0.002858	0.06015	T	.	.	.	.	0.141422826196	0.13715	.	.	.	.	0.395057082176	0.24379	T	0.063174	0.32109	T	-0.255514	0.13429	T	-0.604804	0.12410	T	0.268280513406498	0.23673	T	0.774123	0.40598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37216	B	.	.	-0.229694	0.02942	0.432	0.99724211953128816	0.82266	0.06248	0.12238	N	AEFBI	0.173941	0.30105	N	-0.634642969664614	0.17910	0.9256816	-0.948831549672513	0.10950	0.5548555	0.0093999105330754	0.11847	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	2.66	-5.33	0.02503	-1.699000	0.02007	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.0:0.3452:0.6548	12.323	0.54320	763	0.50172	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020202	0.015152	0.014986	0.005848	0.000000	0.034483	0.024691	0.030303	0.02632	60.35	19	chr19	39902800	.	G	A	60.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=495;ExcessHet=0;FS=17.991;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=31.38;MQRankSum=-1.375;QD=1.21;ReadPosRankSum=2.17;SOR=3.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:54:.:.:0,54,810:.	18	0	1	0
chr19	39913825	39913825	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon6:c.G3262A:p.V1088M	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	.	0.0031	0.00299521	0.0010	0.0100	0.0006	0	0	1.504e-05	0.0033	0.0002	0.0009767	151	154602	rs34041323	0.0003	0.0002	0.0003	0.0002	0.0075	0.0002	0.0002	0.0067	0.0063	0.0075	0.0009	0	0	0	0.0011	4.612e-05	0.0005	0.0003	0.0027	0.0027	0.0027	0.0027	0.0087	0.0025	0.0024	0.0080	0.0077	0.0087	0	0.0022	0	0	0	0	5.881e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.387646	0.13301	N	0.653573	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9061	0.47320	T	0.124	0.42820	T	10	0.007071495	0.00161	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416307151318	0.27329	T	.	.	.	-0.633928	0.00090	T	-0.676263	0.07214	T	0.0158963753480781	0.00374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.124776	0.03496	0.657	0.9303503520925489	0.22637	0.06789	0.12812	N	AEFDBI	0.113743	0.22431	N	-1.40880747352035	0.02561	0.1132411	-1.62081903747571	0.01533	0.06947119	0.9999083926569	0.45458	0.516011	0.20929	0	0.588066	0.40923	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	5.33	-10.7	0.00191	-0.480000	0.06639	.	.	-1.862000	0.00561	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.269:0.1258:0.3929:0.2122	2.380	0.04086	702	0.57624	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	38	chr19	39913825	.	C	T	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=884;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=-0.709;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	18	0	1	0
chr19	39918300	39918300	G	A	exonic	FCGBP	.	stopgain	FCGBP:NM_003890:exon4:c.C1996T:p.Q666X	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs755987057	7.404e-06	6.156e-06	6.524e-06	8.3e-06	0.0007	3.48e-06	2.52e-06	0.0002	9.695e-05	0	0	0	0	0	0.0007	2.097e-06	0	4.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332162	0.14096	N	0.593958	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362076	0.87411	D	0.282321	0.87249	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.107856	0.96150	35	0.99803102062360516	0.88728	0.11435	0.16632	N	AEFDBI	0.114485	0.22547	N	0.411337586148236	0.62043	4.414167	0.192626785843434	0.49440	3.14735	0.0118116506182832	0.12240	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.34	3.03	0.34070	0.200000	0.17055	.	.	0.676000	0.76740	0.000000	0.06391	0.999000	0.35428	0.929000	0.46594	0.0:0.438:0.4209:0.141	9.216	0.36508	610	0.67008	von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3054.33	35	chr19	39918300	.	G	A	3054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=843;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.018;SOR=0.623	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	39934575	39934575	G	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon1:c.C44A:p.T15N	.	422	1003	93	4	0	101	0.0479355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.0223642	0.0372	0.0020	0.0205	0.1475	0.0089	0.0157	0.0370	0.0700	0.0139131	2151	154602	rs75388508	0.0093	0.0079	0.0075	0.0111	0.0662	0.0091	0.0091	0.0629	0.0615	0.0011	0.0054	0.0024	0.0662	0.0048	0.0356	0.0050	0.0118	0.0539	0.0082	0.0082	0.0068	0.0096	0.0595	0.0078	0.0076	0.0541	0.0519	0.0012	0	0.0061	0.0029	0.0595	0.0045	0.0136	0.0066	0.0109	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	0.615989	0.05728	U	1.308190	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0298	0.20519	T	0.003	0.00961	T	10	0.0021094084	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40049123764	0.25137	T	.	.	.	-0.646098	0.00076	T	-0.652957	0.08748	T	0.0105332991833735	0.00146	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.262754	0.28918	17.95	0.90575754460203817	0.19830	0.65483	0.32753	D	AEFDBI	0.111334	0.22046	N	-0.346938018084924	0.27384	1.502045	-0.329407365831129	0.27154	1.504768	0.997071472911191	0.35252	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	0.00765	0.13393	0.736000	0.25798	.	.	-0.106000	0.15538	0.989000	0.36753	1.000000	0.68203	0.885000	0.42453	0.2802:0.1689:0.5508:0.0	4.300	0.10362	589	0.68969	.	PSMC4|FCGBP|ZNF780A|MAP3K10	Artery_Tibial|Cells_Cultured_fibroblasts|Testis|Thyroid	.	.	rs75388508	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034813	0.005102	0.023098	0.023392	0.000000	0.043103	0.051829	0.087121	0.1053	6357.43	33	chr19	39934575	.	G	T	6357.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.559;DP=1038;ExcessHet=0.7564;FS=1.102;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.545;SOR=0.793	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1461,0,1632	15	0	4	0
chr19	40015261	40015261	C	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1913A:p.P638H,ZNF546:NM_178544:exon7:c.C1991A:p.P664H	.	411	1096	13	2	0	17	0.00769579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0035	0.00379393	0.0043	0.0012	0.0016	0	0.0044	0.0044	0.0055	0.0100	0.0042561	658	154602	rs142397727	0.0052	0.0052	0.0052	0.0053	0.0090	0.0051	0.0051	0.0084	0.0082	0.0010	0.0016	0.0077	0	0.0035	0.0047	0.0054	0.0052	0.0090	0.0035	0.0035	0.0035	0.0035	0.0097	0.0032	0.0031	0.0075	0.0067	0.0010	0	0.0021	0.0092	0	0.0035	0.0068	0.0048	0.0057	0.0097	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.653301	0.32984	D	2.09	0.57893	M	2.27	0.56772	T	-7.06	0.93879	D	0.414	0.45426	-0.0279	0.81675	T	0.311	0.68112	T	9	0.008543998	0.00194	T	.	.	.	0.210	0.50028	.	.	0.860167341092	0.85881	0.03879595108451441	0.03825	0.484137268567	0.47336	0.386950731277	0.23238	T	0.113869	0.43125	T	-0.364672	0.03873	T	-0.289354	0.45839	T	0.0383043435494674	0.03386	T	.	.	.	0.4752062	0.65609	0.47731093	0.69718	0.4752062	0.65609	0.47731093	0.69719	-9.59	0.71418	D	.	.	0.893	0.84006	P	.;.	.;.	3.101264	0.41800	21.4	0.99558160566288523	0.71583	0.86165	0.45394	D	AEFGBHCI	0.412693	0.48266	N	0.471918669536868	0.65458	4.824925	0.262871618795705	0.53386	3.507753	0.999386520617574	0.39415	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.68	2.68	0.30839	3.084000	0.49841	.	.	0.469000	0.21855	0.951000	0.33123	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	11.527	0.49836	769	0.49307	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.015152	0.05263	3897.83	47	chr19	40015261	.	C	A	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=1024;ExcessHet=0.119;FS=0.41;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=1.09;QD=12.37;ReadPosRankSum=1.11;SOR=0.65	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	17	0	2	0
chr19	40035100	40035100	A	T	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.T1759A:p.C587S	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.0033967589573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.842e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.851584	0.35232	D	3.775	0.95212	H	-1.95	0.85003	D	-8.9	0.98572	D	0.498	0.59816	0.730	0.93546	D	0.789	0.92847	D	9	0.94177544	0.93502	D	0.003397	0.07633	T	0.471	0.76487	0.826	0.93721	0.925253466656	0.92449	0.12353031044621374	0.12279	0.408928410691	0.41719	0.506293654442	0.39705	T	0.287301	0.66010	T	0.194496	0.73379	D	0.0416032	0.73032	D	0.996829330921173	0.90159	D	.	.	.	0.859959	0.88082	0.7482632	0.85120	0.859959	0.88084	0.7482632	0.85121	-10.734	0.78179	D	.	.	0.846	0.80757	P	.;.;.	.;.;.	3.682818	0.52433	23.2	0.99398931493318698	0.62702	0.42573	0.26907	N	AEFGBCI	0.802968	0.72824	D	0.562245237506477	0.70831	5.559645	0.343100122972913	0.58092	3.977941	0.863062483603987	0.25264	0.615465	0.37627	0	0.653731	0.59785	0	0.575934	0.27490	0	0.655142	0.61905	0	.	.	2.56	2.56	0.29842	7.807000	0.84584	.	.	0.561000	0.28422	1.000000	0.71638	0.167000	0.23311	0.013000	0.09966	1.0:0.0:0.0:0.0	8.343	0.31416	784	0.47045	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2563.33	34	chr19	40035100	.	A	T	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.82;DP=819;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.16;MQRankSum=1.78;QD=14.48;ReadPosRankSum=0.185;SOR=0.676	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1297	18	0	1	0
chr19	40215212	40215212	C	T	exonic	MAP3K10	.	nonsynonymous SNV	MAP3K10:NM_002446:exon10:c.C2785T:p.P929S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.112463994066	.	.	3.404e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs755460900	6.327e-06	6.156e-06	6.963e-06	5.678e-06	4.905e-05	2.98e-06	2.16e-06	1.645e-05	9.72e-06	0	0	0	0	0	0	3.659e-06	1.697e-05	4.905e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.253	0.23501	T	0.651	0.40707	P	0.165	0.35019	B	0.005222	0.32979	N	0.269005	0.953783	0.26392	N	2.605	0.76211	M	-0.89	0.74793	T	-2.88	0.60507	D	0.305	0.34444	-0.7986	0.55227	T	0.200	0.55555	T	10	0.256607	0.43067	T	0.112464	0.79062	D	0.156	0.40720	0.253	0.19223	0.805336479385	0.80351	0.25838586455091433	0.25752	0.273693074295	0.29866	0.423796355724	0.28359	T	0.219917	0.58305	T	-0.207413	0.19744	T	-0.310009	0.43657	T	0.401141166687012	0.28985	T	0.740526	0.35940	T	0.10011449	0.23636	0.12473541	0.30063	0.10011449	0.23636	0.12473541	0.30062	-3.831	0.21268	T	.	.	0.104	0.18705	B	.	.	3.390819	0.46947	22.4	0.9938671305714688	0.62157	0.95317	0.64251	D	AEFDI	0.362186	0.45153	N	-0.149077235604641	0.35274	2.023996	-0.10548865973641	0.35169	2.031448	0.100330732797303	0.16351	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	3.42	0.38259	4.308000	0.58922	.	.	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.359000	0.25863	0.0:0.6314:0.3686:0.0	10.965	0.46619	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1204.33	35	chr19	40215212	.	C	T	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.178;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	18	0	1	0
chr19	40381080	40381080	G	T	exonic	HIPK4	.	nonsynonymous SNV	HIPK4:NM_144685:exon3:c.C911A:p.T304N	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00971703052605	0.0068	0.00199681	0.0054	0.0017	0.0036	0	0.0035	0.0079	0.0069	0.0028	0.0052134	806	154602	rs79330270	0.0084	0.0084	0.0084	0.0084	0.0095	0.0083	0.0082	0.0094	0.0093	0.0017	0.0046	0.0131	0	0.0055	0.0040	0.0095	0.0084	0.0025	0.0061	0.0061	0.0063	0.0059	0.0090	0.0058	0.0056	0.0084	0.0082	0.0019	0	0.0058	0.0147	0	0.0060	0.0102	0.0090	0.0104	0.0019	0.553	0.06523	T	0.457	0.12704	T	0.001	0.07471	B	0.004	0.10090	B	0.776416	0.09506	N	0.892967	0.991	0.24083	N	0.335	0.10427	N	2.09	0.20122	T	0.79	0.01893	N	0.094	0.07398	-0.9490	0.41143	T	0.010	0.03765	T	10	0.0053276718	0.00117	T	0.009717	0.25381	T	0.016	0.02506	.	.	0.273938319068	0.27005	0.26611127717448557	0.26524	0.369375503011	0.38465	0.320496082306	0.13496	T	0.017857	0.14499	T	-0.691148	0.00041	T	-0.759023	0.03148	T	0.000881895418135936	0.00008	T	0.480552	0.14510	T	0.043260098	0.06709	0.04543267	0.06112	0.043260098	0.06708	0.04543267	0.06112	-3.242	0.13000	T	.	.	0.074	0.05103	B	.	.	-0.643657	0.01456	0.089	0.67150523907614956	0.08269	0.36960	0.25653	N	AEFDGBI	.	.	.	-1.51411854828507	0.01756	0.07691573	-1.39430744236027	0.03312	0.1542543	0.0030634780167853	0.09903	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	5.67	-2.14	0.06725	0.215000	0.17352	.	.	-2.905000	0.00161	0.020000	0.19661	0.001000	0.17328	0.001000	0.02609	0.0701:0.4725:0.2585:0.1989	5.916	0.18293	726	0.54788	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	36	chr19	40381080	.	G	T	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.027;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.36;SOR=0.712	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr19	40580789	40580789	C	G	exonic	SHKBP1	.	nonsynonymous SNV	SHKBP1:NM_138392:exon9:c.C697G:p.R233G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0104413388116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761357091	8.221e-06	8.209e-06	4.089e-06	1.24e-05	0.0002	4.38e-06	3.46e-06	3.775e-05	2.668e-05	0	0	0	0	0	0.0002	3.601e-06	0	8.139e-05	6.576e-06	6.569e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.265	0.22694	T	0.668	0.41123	P	0.131	0.32951	B	0.000042	0.53742	D	0.121050	0.999265	0.46490	D	2.015	0.55033	M	3.58	0.45636	T	-2.92	0.61129	D	0.59	0.66959	-0.9730	0.36562	T	0.019	0.08033	T	10	0.2892143	0.46502	T	0.010441	0.26980	T	0.140	0.37593	0.44	0.49484	0.425028116352	0.42120	0.7062138185004649	0.70563	0.918157922851	0.71329	0.693021178246	0.66140	T	0.27709	0.64970	T	-0.14481	0.29128	T	-0.345156	0.39759	T	0.540967464447021	0.34140	D	0.915608	0.77472	D	0.6747322	0.76687	0.44021416	0.67348	0.6747322	0.76688	0.44021416	0.67348	-7.456	0.57300	T	.	.	0.432	0.61300	A	.;.	.;.	4.560624	0.71867	25.7	0.98739883514607152	0.45482	0.56608	0.30161	D	AEFBI	0.510732	0.53966	D	-0.0914885069412428	0.37764	2.201904	-0.148214575398857	0.33476	1.915363	0.999463604709294	0.39843	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	1.05	0.19280	0.727000	0.25667	.	.	0.599000	0.40250	0.068000	0.22015	0.998000	0.33993	0.996000	0.76049	0.1619:0.5587:0.0:0.2793	4.863	0.12955	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1106.33	39	chr19	40580789	.	C	G	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=737;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.465;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	18	0	1	0
chr19	40667828	40667828	A	C	exonic	NUMBL	.	nonsynonymous SNV	NUMBL:NM_001289979:exon9:c.T1347G:p.F449L,NUMBL:NM_001289980:exon9:c.T1347G:p.F449L,NUMBL:NM_004756:exon10:c.T1470G:p.F490L	.	397	1115	9	1	0	11	0.00490852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00119808	0.0104	0.0023	0.0034	0	0.0042	0.0179	0.0111	0.0037	0.0039586	612	154602	rs199956156	0.0066	0.0066	0.0067	0.0066	0.0074	0.0065	0.0065	0.0073	0.0072	0.0011	0.0015	0.0205	0	0.0033	0.0012	0.0074	0.0067	0.0026	0.0041	0.0041	0.0042	0.0041	0.0062	0.0039	0.0038	0.0057	0.0056	0.0010	0.0055	0.0022	0.0210	0	0.0030	0.0068	0.0062	0.0047	0.0023	0.002	0.72154	D	0.339	0.18071	T	0.462	0.36386	P	0.098	0.30479	B	0.000002	0.62929	D	0.060807	0.863079	0.28325	N	1.955	0.52871	M	0.41	0.57100	T	-2.37	0.52612	N	0.247	0.57177	-1.0377	0.18016	T	0.088	0.34050	T	10	0.0067274272	0.00153	T	.	.	.	0.172	0.43662	0.435	0.48664	0.459313791991	0.45557	0.7202908453495478	0.71972	0.479578996865	0.46990	0.799967050552	0.81957	T	0.342952	0.71166	T	-0.372531	0.03468	T	-0.304305	0.44267	T	0.0299612665370405	0.01984	T	0.935306	0.75759	D	0.36126417	0.57932	0.33914042	0.59683	0.36126417	0.57933	0.33914042	0.59682	-2.81	0.08276	T	.	.	0.808	0.81592	P	.;.;.	.;.;.	2.074899	0.26388	17.10	0.99351637037945917	0.60615	0.63770	0.32193	D	AEFDBI	0.379129	0.46226	N	-0.680519534277641	0.16577	0.8458458	-0.659957737909284	0.17966	0.9576518	0.999993001643941	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.866	0.18216	0.300000	0.18911	.	.	-0.159000	0.11634	0.540000	0.27267	0.010000	0.20010	0.979000	0.57723	0.6145:0.0:0.3855:0.0	8.182	0.30476	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000509	0.000000	0.002725	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	862.33	33	chr19	40667828	.	A	C	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.382;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.82;SOR=0.708	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,48:52:24:0|1:40667975_C_T:1898,0,24:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,48:52:18:1|0:40667975_C_T:2167,168,18:40667975	1	7	11	0
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.015152	0.013587	0.017857	0.000000	0.008621	0.009202	0.049242	0.02632	480.33	34	chr19	40744680	.	G	A	480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.503;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.86;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1250	18	0	1	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.07895	4577.79	75	chr19	40749800	.	T	C	4577.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.415;DP=1652;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1260	16	0	3	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D,EGLN2:NM_080732:exon2:c.G78C:p.E26D	.	417	1085	20	0	0	20	0.00913242	.	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	665.33	33	chr19	40800650	.	G	C	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.01;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.384;SOR=0.588	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr19	40876638	40876638	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon7:c.G1039A:p.V347M,CYP2A7:NM_000764:exon8:c.G1192A:p.V398M	.	3	1495	23	1	0	25	0.00829187	.	.	.	2808714	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0211865437845	0.0048	0.000998403	0.0041	0.0007	0.0022	0	0.0024	0.0063	0.0066	0.0017	0.0039262	607	154602	rs138869707	0.0047	0.0047	0.0046	0.0048	0.0054	0.0046	0.0046	0.0050	0.0049	0.0006	0.0030	0.0138	2.519e-05	0.0032	0.0054	0.0051	0.0064	0.0016	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0051	0.0049	0.0008	0	0.0059	0.0130	0	0.0034	0.0137	0.0056	0.0076	0.0008	0.007	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.958	0.71005	D	0.000002	0.62929	U	0.000000	0.874761	0.28148	N	3.3	0.90472	M	-0.39	0.69158	T	-2.37	0.52289	N	0.6	0.61849	-0.5710	0.65975	T	0.297	0.66858	T	10	0.018483907	0.00403	T	0.021187	0.43920	T	0.301	0.62179	.	.	0.621965656393	0.61889	0.3189579386612236	0.31808	0.417512201385	0.42368	0.528957486153	0.42887	T	0.022676	0.17443	T	-0.346878	0.04925	T	-0.2694	0.47879	T	0.0679574926277712	0.08361	T	0.90141	0.65732	D	0.46873435	0.65212	0.5499202	0.73977	0.46873435	0.65213	0.5499202	0.73978	-8.84	0.66661	D	.	.	0.321	0.54558	B	.;.	.;.	3.183702	0.43231	21.7	0.9973877714874223	0.83337	0.63272	0.32038	D	AEFDBCI	0.285685	0.39825	N	-0.0741509742085061	0.38529	2.257997	-0.284548861514484	0.28606	1.596326	0.173969494644633	0.17776	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	2.18	1.03	0.19161	2.273000	0.43041	.	.	0.311000	0.19140	0.436000	0.26456	0.000000	0.08366	0.069000	0.16583	0.0:0.7847:0.2153:0.0	9.675	0.39201	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006342	0.000000	0.006793	0.008197	0.000000	0.008621	0.006098	0.007576	0.02632	952.33	34	chr19	40876638	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-0.37;QD=7.27;ReadPosRankSum=0.461;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1322	18	0	1	0
chr19	40880542	40880542	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon2:c.G277A:p.G93S,CYP2A7:NM_000764:exon3:c.G430A:p.G144S	.	5	1514	3	0	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00863588213549	7.7e-05	0.000998403	0.0008	0	0	0	0	0	0.0011	0.0057	0.0006339	98	154602	rs199894834	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0003	2.43e-05	0.0004	0.0053	0.0002	0.0002	0.0001	0.0003	0.0061	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0.0034	1.481e-05	0	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.644	0.40509	P	0.605	0.50945	P	0.000039	0.55875	U	0.124358	1	0.08975	N	-0.025	0.05070	N	-0.19	0.65931	T	1.38	0.00857	N	0.228	0.25745	-0.8975	0.48244	T	0.074	0.29865	T	10	0.0064940155	0.00147	T	0.008636	0.22829	T	0.078	0.22779	.	.	0.396794106654	0.39292	0.647765513325087	0.64711	0.110342344134	0.12451	0.319042921066	0.13275	T	0.001441	0.00900	T	-0.533046	0.00369	T	-0.53668	0.18623	T	0.0434803324353541	0.04326	T	0.768323	0.39714	T	0.116999455	0.27589	0.11246874	0.27136	0.116999455	0.27589	0.11246874	0.27136	-1.617	0.02022	T	.	.	0.132	0.28578	B	.;.	.;.	0.768529	0.11385	7.998	0.86662901732762376	0.16687	0.02636	0.07232	N	AEFDBHCI	0.088470	0.17937	N	-1.38375240663111	0.02790	0.1237016	-1.40234898001004	0.03228	0.1501711	0.266542387405084	0.18847	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	2.22	1.14	0.19817	-2.795000	0.00834	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.245:0.448:0.0:0.307	2.255	0.03805	561	0.71236	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1904.33	119	chr19	40880542	.	C	T	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.631;DP=1367;ExcessHet=0;FS=7.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=4.44;QD=16;ReadPosRankSum=1.87;SOR=0.73	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1363	18	0	1	0
chr19	41090175	41090175	G	C	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon3:c.G472C:p.D158H	.	0	1510	11	1	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	0.00319489	0.0021	0	0.0003	0.0001	0	0	0.0013	0.0215	0.0021733	336	154602	rs200738334	0.0013	0.0014	0.0007	0.0020	0.0228	0.0013	0.0013	0.0220	0.0216	3.035e-05	0	0	2.538e-05	0	0.0030	4.56e-06	0.0007	0.0228	0.0006	0.0006	0.0002	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0172	0.0	0.91255	D	0.001	0.83351	D	0.334	0.33305	B	0.362	0.43260	B	0.147872	0.18067	U	0.562735	1	0.08975	N	0.895	0.22405	L	-0.45	0.69896	T	-1.81	0.42575	N	0.25	0.28264	-0.8221	0.53802	T	0.188	0.53886	T	10	0.0046170056	0.00096	T	.	.	.	0.178	0.44724	0.504	0.59770	0.256793551483	0.25290	0.2733961681766101	0.27252	0.246430277948	0.27182	0.27525344491	0.06840	T	0.06	0.31268	T	-0.424649	0.01598	T	-0.365836	0.37376	T	0.0434485346610734	0.04320	T	0.648535	0.25952	T	0.48815894	0.66393	0.23927554	0.49272	0.48815894	0.66394	0.23927554	0.49271	-6.049	0.46687	T	.	.	0.152	0.33550	B	.	.	0.812459	0.11832	8.403	0.71013201195494169	0.09486	0.12053	0.17030	N	AEFDBHCI	0.070603	0.14022	N	-1.80593987658801	0.00531	0.02284989	-1.90586960964476	0.00477	0.02111125	0.998734444176896	0.37559	0.685219	0.55550	0	0.563428	0.19063	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	3.43	-2.38	0.06243	0.180000	0.16672	-0.245000	0.10556	-2.032000	0.00429	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1725:0.2408:0.5867:0.0	7.511	0.26744	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	888.33	34	chr19	41090175	.	G	C	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.126;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=1.01;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	18	0	1	0
chr19	41122096	41122096	G	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon6:c.G785A:p.R262Q	.	420	1084	16	2	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0614384710204	.	.	0.0011	0	0.0004	0.0004	0	0.0011	0.0013	0.0030	0.0001811	28	154602	rs200744662	0.0034	0.0058	0.0029	0.0039	0.0130	0.0034	0.0033	0.0123	0.0121	0.0005	0.0021	0.0109	0.0065	0.0043	0.0044	0.0025	0.0040	0.0130	0.0064	0.0076	0.0065	0.0063	0.0202	0.0060	0.0059	0.0169	0.0156	0.0012	0	0.0047	0.0226	0.0028	0.0059	0.0102	0.0085	0.0049	0.0202	0.11	0.29158	T	0.128	0.34959	T	0.93	0.51791	P	0.132	0.33005	B	0.000541	0.43413	U	0.184114	0.972435	0.25601	N	1.395	0.35261	L	-0.52	0.70717	T	-2.96	0.61722	D	0.205	0.22742	-0.8056	0.54813	T	0.218	0.58046	T	10	0.01528573	0.00321	T	0.061438	0.68330	D	0.252	0.56159	.	.	0.842719015457	0.84121	0.24663746454543894	0.24577	0.387230448795	0.40004	0.364863872528	0.20092	T	0.025665	0.19147	T	-0.440185	0.01290	T	-0.39711	0.33722	T	0.045873422260574	0.04761	T	0.940606	0.77652	D	0.20882948	0.43131	0.20006733	0.43920	0.20882948	0.43131	0.20006733	0.43919	-5.221	0.39155	T	.	.	0.087	0.11269	B	.	.	2.812654	0.37031	20.4	0.99689659939353592	0.79842	0.87385	0.46908	D	AEFDBI	0.202491	0.32907	N	0.0244201948063	0.42968	2.599047	-0.0343275468314328	0.38176	2.245452	0.00750451562744449	0.11482	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.21	0.855	0.18150	3.003000	0.49192	0.905000	0.22581	0.292000	0.18798	0.905000	0.31549	0.002000	0.18203	0.457000	0.28051	0.0:0.1845:0.6281:0.1874	7.022	0.24097	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006425	0.000000	0.002747	0.012712	0.000000	0.000000	0.003521	0.016260	0.02632	736.33	34	chr19	41122096	.	G	A	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.47;DP=1114;ExcessHet=0;FS=7.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.76;MQRankSum=-7.123;QD=5.19;ReadPosRankSum=-2.02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1422:.	18	0	1	0
chr19	41124737	41124737	T	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon8:c.T983A:p.I328N	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.131521775098	7.7e-05	.	0.0008	0	0.0003	0	0	0.0003	0.0027	0.0040	0.0005369	83	154602	rs372824170	0.0005	0.0005	0.0003	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	5.98e-05	8.969e-05	0	7.565e-05	0	0.0026	0.0002	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0.0001	0	0	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000014	0.62929	U	0.064580	0.998183	0.44603	D	3.545	0.93219	H	-0.81	0.73949	T	-6.41	0.91226	D	0.883	0.88137	0.450	0.89836	D	0.670	0.88579	D	10	0.18624687	0.34081	T	0.131522	0.81378	D	0.625	0.85511	.	.	0.911612100983	0.91072	0.8242532732302961	0.82383	1.43972300734	0.85949	0.700266003609	0.67181	T	0.121749	0.44492	T	-0.226669	0.17092	T	-0.0981039	0.63543	T	0.290959605107801	0.24629	T	0.911809	0.68723	D	0.97551733	0.98750	0.92435706	0.96703	0.97551733	0.98750	0.92435706	0.96704	-12.563	0.87485	D	.	.	0.796	0.77098	P	.	.	3.772468	0.54193	23.5	0.81645528404771683	0.13789	0.94309	0.60756	D	AEFDBHI	0.383504	0.46499	N	0.514445937641141	0.67943	5.149642	0.304720625583079	0.55816	3.744488	0.987211036396077	0.31212	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	4.830000	0.62434	1.355000	0.25837	0.310000	0.19122	1.000000	0.71638	0.957000	0.29195	0.233000	0.22815	0.0:0.0:0.0:1.0	9.453	0.37903	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.005102	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1447.33	35	chr19	41124737	.	T	A	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.186;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	18	0	1	0
chr19	41198465	41198465	G	A	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon4:c.G497A:p.R166H	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.022567069366	0.0024	0.000199681	0.0014	0.0005	0	0.0002	0.0008	0.0021	0.0022	0.0013	0.0015136	234	154602	rs45457494	0.0025	0.0025	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0028	0.0005	0.0002	0.0007	2.519e-05	0.0006	0.0021	0.0030	0.0029	0.0018	0.0014	0.0014	0.0014	0.0015	0.0025	0.0013	0.0012	0.0022	0.0021	0.0006	0	0.0001	0.0009	0	0.0004	0	0.0025	0.0043	0.0013	0.064	0.36509	T	0.128	0.34959	T	0.003	0.11197	B	0.002	0.06944	B	0.071858	0.02259	N	2.019370	1	0.08975	N	1.02	0.25474	L	-0.36	0.68754	T	-1.51	0.36787	N	0.067	0.03956	-0.8627	0.51068	T	0.219	0.58227	T	10	0.0062442124	0.00141	T	0.022567	0.45471	T	0.181	0.45247	.	.	0.15556083564	0.15200	0.3357231953768544	0.33485	0.360613837386	0.37730	0.191262587905	0.00248	T	0.011229	0.10044	T	-0.533364	0.00367	T	-0.541967	0.18103	T	0.00899461626076095	0.00112	T	0.182482	0.01856	T	0.0316627	0.03048	0.040216018	0.04296	0.0316627	0.03048	0.040216018	0.04295	-5.813	0.44688	T	.	.	0.076	0.05935	B	.	.	-0.070775	0.03818	0.814	0.94922661210822434	0.25798	0.00607	0.02700	N	AEFDBI	0.053724	0.09706	N	-1.2807535982776	0.03907	0.1754057	-1.4480255687567	0.02788	0.1288755	0.999999244886565	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.14	-10.3	0.00281	-4.134000	0.00327	-4.018000	0.02390	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.512000	0.29290	0.6985:0.1885:0.113:0.0	11.899	0.51950	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	852.33	42	chr19	41198465	.	G	A	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=703;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.688;SOR=0.416	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr19	41198839	41198839	C	T	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon5:c.C785T:p.S262L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00930629234769	.	.	2.479e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs762923707	6.157e-06	6.156e-06	6.806e-06	5.5e-06	6.708e-05	2.9e-06	2.1e-06	1.779e-05	8.93e-06	0	6.708e-05	0	2.519e-05	0	0	1.799e-06	0	3.478e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.067	0.44302	T	0.026	0.19406	B	0.003	0.08700	B	0.042952	0.23789	U	0.404501	1	0.08975	N	2.105	0.58435	M	4.96	0.01366	T	-4.29	0.76414	D	0.337	0.37820	-0.9803	0.34932	T	0.007	0.02244	T	10	0.092558414	0.16307	T	0.009306	0.24436	T	0.070	0.20419	0.348	0.34436	0.0986583533028	0.09354	0.35475236884514977	0.35389	0.701633187537	0.61175	0.325541615486	0.14260	T	0.073675	0.34754	T	-0.427913	0.01526	T	-0.655473	0.08576	T	0.694483041763306	0.40457	D	0.257074	0.04045	T	0.19623968	0.41443	0.24429405	0.49893	0.19623968	0.41443	0.24429405	0.49892	-5.488	0.41756	T	.	.	0.099	0.16886	B	.	.	2.860317	0.37787	20.6	0.99482738599586806	0.66959	0.21477	0.21415	N	AEFDBI	0.165192	0.29166	N	-0.572786588750708	0.19774	1.037586	-0.61387394104124	0.19137	1.025417	0.647606114686855	0.22125	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.28	2.65	0.30588	2.047000	0.40893	2.058000	0.30379	0.547000	0.25779	0.004000	0.16614	0.006000	0.19429	0.005000	0.06747	0.174:0.718:0.0:0.108	7.122	0.24628	607	0.67291	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	42	chr19	41198839	.	C	T	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.848;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	18	0	1	0
chr19	41201351	41201351	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.A955G:p.M319V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00326142955321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.191	0.46182	T	0.001	0.07471	B	0.003	0.08700	B	0.007363	0.31436	N	0.256239	1	0.08975	N	0.36	0.11994	N	-0.37	0.68892	T	-2.22	0.49846	N	0.135	0.13198	-1.0448	0.15884	T	0.100	0.37111	T	10	0.115273505	0.21713	T	0.003261	0.07207	T	0.081	0.23632	0.587	0.71497	0.12205267543	0.11705	0.624329636370602	0.62365	0.295483189087	0.31953	0.334277749062	0.15578	T	0.088974	0.38272	T	-0.295183	0.09122	T	-0.661786	0.08146	T	0.131730914115906	0.15541	T	0.775622	0.45008	T	0.18572746	0.39949	0.1428974	0.33979	0.18572746	0.39949	0.1428974	0.33978	-6.026	0.46497	T	.	.	0.13	0.40984	B	.;.	.;.	1.625583	0.20758	14.90	0.81640981145530156	0.13786	0.02764	0.07458	N	AEFBI	0.043651	0.06928	N	-1.17474622427641	0.05383	0.2453079	-1.14911421330431	0.06784	0.327718	0.00487994355255602	0.10746	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.2	-2.55	0.05922	-1.147000	0.03298	-0.117000	0.11764	-0.118000	0.14412	0.000000	0.06391	0.002000	0.18203	0.987000	0.62547	0.3917:0.3337:0.1202:0.1544	1.996	0.03246	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1795.33	39	chr19	41201351	.	A	G	1795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=839;ExcessHet=0;FS=2.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.739;SOR=0.456	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	18	0	1	0
chr19	41237981	41237981	G	A	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon4:c.G17A:p.G6E,AXL:NM_001699:exon7:c.G821A:p.G274E,AXL:NM_021913:exon7:c.G821A:p.G274E	.	416	1105	1	0	0	1	0.000452284	.	.	.	1371832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0564868978415	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs747220380	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	0.0002	0.0011	0	0	0.0016	0.0001	0.0004	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.55e-05	0.0009	0	0	0.0032	0.0003	0	0	0.426	0.30515	T	0.509	0.33554	T	0.229	0.32311	B	0.175	0.36047	B	0.049710	0.23136	U	0.359195	0.782723	0.34287	D	1.95	0.52479	M	-0.94	0.75325	T	-1.68	0.40082	N	0.516	0.62611	-0.7774	0.56448	T	0.213	0.57428	T	10	0.20559645	0.36792	T	0.056487	0.66621	D	0.233	0.53499	.	.	0.470228732361	0.46650	0.6233070544354946	0.62263	0.396917428086	0.40799	0.352018624544	0.18219	T	0.132953	0.46335	T	-0.212687	0.19002	T	-0.23731	0.51061	T	0.0314469829018591	0.02216	T	0.79922	0.44465	T	0.10479236	0.24775	0.15017852	0.35428	0.10479236	0.24775	0.15017852	0.35427	-3.272	0.13378	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	3.076843	0.41376	21.3	0.98688686502489176	0.44723	0.83353	0.42477	D	AEFDBI	0.144893	0.26797	N	-0.387739270678841	0.25904	1.40977	-0.293874812227484	0.28300	1.576932	0.999339192158191	0.39185	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.11	4.11	0.47350	2.399000	0.44148	9.910000	0.82419	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.1126:0.0:0.8874:0.0	7.950	0.29170	538	0.73119	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	890.33	34	chr19	41237981	.	G	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=671;ExcessHet=0;FS=4.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.52;SOR=0.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr19	41238043	41238043	C	T	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon4:c.C79T:p.R27W,AXL:NM_001699:exon7:c.C883T:p.R295W,AXL:NM_021913:exon7:c.C883T:p.R295W	.	420	1101	1	0	0	1	0.000453926	.	.	.	3050311	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0528420252581	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs751738506	3.078e-05	3.078e-05	3.675e-05	2.475e-05	0.0003	2.347e-05	2.095e-05	6.094e-05	2.522e-05	0	0	0	5.038e-05	0	0.0003	3.507e-05	3.311e-05	0	3.947e-05	3.94e-05	6.429e-05	1.347e-05	8.825e-05	1.717e-05	1.13e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0	0	0.093	0.33585	T	0.06	0.48594	T	0.999	0.77913	D	0.72	0.54860	P	0.195816	0.16727	U	0.538685	0.999979	0.18612	N	2.015	0.55033	M	0.38	0.57575	T	-2.65	0.56787	D	0.541	0.56833	-0.9115	0.46670	T	0.183	0.53087	T	10	0.47480604	0.60079	T	0.052842	0.65233	D	0.329	0.65126	0.599	0.72984	0.434057395736	0.43027	0.5138917788934825	0.51311	0.745944124361	0.63518	0.441844969988	0.30829	T	0.286104	0.65889	T	-0.120491	0.33044	T	-0.303196	0.44388	T	0.840548813343048	0.49372	D	0.925307	0.72522	D	0.23008184	0.45757	0.27239686	0.53149	0.23008184	0.45757	0.27239686	0.53148	-7.678	0.60057	D	.	.	0.081	0.08081	B	.;.;.	.;.;.	3.824268	0.55237	23.6	0.99851131863634857	0.93013	0.66461	0.33086	D	AEFDBI	0.260245	0.37843	N	0.205920852822746	0.51486	3.329403	0.154673186335514	0.47391	2.969964	0.997248475837403	0.35414	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.26	4.26	0.49832	1.160000	0.31372	1.439000	0.26511	0.589000	0.31548	0.099000	0.22773	0.066000	0.22130	0.984000	0.60418	0.2067:0.7932:0.0:0.0	9.722	0.39472	538	0.73119	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	34	chr19	41238043	.	C	T	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.394;DP=698;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.319;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	18	0	1	0
chr19	41433381	41433381	C	T	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167871:exon4:c.G406A:p.D136N,DMAC2:NM_001320839:exon4:c.G424A:p.D142N,DMAC2:NM_001320840:exon4:c.G424A:p.D142N,DMAC2:NM_001320844:exon4:c.G406A:p.D136N,DMAC2:NM_001167867:exon5:c.G505A:p.D169N,DMAC2:NM_018035:exon5:c.G487A:p.D163N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0509085835459	.	.	8.394e-06	0	0	0	0	1.533e-05	0	0	1.29e-05	2	154602	rs782763663	2.054e-05	2.052e-05	2.043e-05	2.064e-05	0.0002	1.457e-05	1.264e-05	2.004e-05	1.227e-05	0	2.236e-05	0	7.558e-05	0	0.0002	2.159e-05	1.657e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.99959	0.81001	D	.	.	.	0.84	0.47477	T	-4.37	0.77061	D	0.769	0.81758	-0.3040	0.74873	T	0.342	0.70729	T	10	0.6873439	0.71642	D	0.050909	0.64438	D	0.393	0.70844	.	.	0.746941252224	0.74465	0.7598363125267967	0.75931	0.67907236185	0.59917	0.506046056747	0.39670	T	0.194779	0.63346	T	-0.249835	0.14117	T	-0.427519	0.30217	T	0.938859283924103	0.60982	D	0.913709	0.79907	D	0.4958138	0.66848	0.3319799	0.59051	0.4958138	0.66849	0.3319799	0.59050	-8.283	0.62982	D	.	.	0.445	0.64352	A	.;.;.;.;.;.	.;.;.;.;.;.	4.809382	0.78220	26.9	0.99899401238038621	0.97124	0.91934	0.54580	D	AEFDBHCI	0.738858	0.68360	D	0.699882254575542	0.79624	7.117195	0.601626208255365	0.75056	6.243817	0.999999994120601	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.43	4.43	0.52967	4.496000	0.60081	7.478000	0.59226	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.493000	0.28859	0.0:1.0:0.0:0.0	14.416	0.66722	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1366.33	40	chr19	41433381	.	C	T	1366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=744;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.233;SOR=0.817	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1380,0,1290	18	0	1	0
chr19	41579527	41579527	C	T	exonic	CEACAM21	.	nonsynonymous SNV	CEACAM21:NM_001098506:exon3:c.C599T:p.T200I,CEACAM21:NM_001290113:exon3:c.C215T:p.T72I,CEACAM21:NM_033543:exon3:c.C599T:p.T200I,CEACAM21:NM_001288773:exon4:c.C215T:p.T72I	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00154109281056	0.0014	0.000599042	0.0012	0	0.0005	0	0	0.0019	0.0026	0.0009	0.0009573	148	154602	rs139036367	0.0009	0.0009	0.0008	0.0009	0.0043	0.0008	0.0008	0.0030	0.0026	0.0001	0.0005	0.0017	0	1.873e-05	0.0043	0.0009	0.0014	0.0008	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0006	0	9.42e-05	0	0.0014	0.0019	0.0004	0.053	0.38863	T	0.291	0.28482	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.77	0.11407	T	-4.72	0.79998	D	0.09	0.06990	-1.0516	0.13954	T	0.039	0.16978	T	9	0.015399635	0.00323	T	0.001541	0.02420	T	0.035	0.08770	.	.	0.0482279557977	0.04254	0.3101955809135996	0.30932	0.13162313656	0.14841	.	.	.	.	.	.	-0.569624	0.00222	T	-0.615629	0.11532	T	0.136128589510918	0.15938	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.52385	B	.;.;.	.;.;.	0.156737	0.05477	1.946	0.98514453608873587	0.42386	0.00329	0.01719	N	AEFBI	0.026900	0.02103	N	-0.824227230968977	0.12692	0.6203225	-1.10763120710169	0.07553	0.3678649	4.07064757860546E-4	0.06860	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	3.34	-3.53	0.04369	-0.306000	0.08217	-10.165000	0.00732	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.3703:0.3662:0.114	2.908	0.05377	849	0.35778	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1889.33	34	chr19	41579527	.	C	T	1889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=855;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.871;SOR=0.599	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1213	18	0	1	0
chr19	41625739	41625739	T	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.A286T:p.S96C,CEACAM4:NM_001362495:exon2:c.A286T:p.S96C,CEACAM4:NM_001817:exon2:c.A286T:p.S96C	.	381	1138	3	0	0	3	0.00131637	.	.	.	2779498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.00472211459832	.	.	6.593e-05	0	0	0	0	5.998e-05	0	0.0002	5.17e-05	8	154602	rs202066347	3.284e-05	3.283e-05	2.178e-05	4.4e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	2.338e-05	6.624e-05	0.0002	6.576e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.56456	D	0.001	0.83351	D	0.69	0.41631	P	0.455	0.46267	P	.	.	.	.	1	0.08975	N	2.575	0.75298	M	-0.44	0.69777	T	-4.74	0.80172	D	0.199	0.22742	-0.5517	0.66723	T	0.483	0.80255	T	9	0.3362785	0.50770	T	0.004722	0.11753	T	0.166	0.42578	0.729	0.86286	0.510407551169	0.50681	0.16208747179313437	0.16129	0.195422479786	0.21877	0.299593836069	0.10340	T	0.258914	0.63012	T	-0.309219	0.07816	T	-0.3898	0.34575	T	0.428560048341751	0.30007	T	.	.	.	0.52299315	0.68431	0.26861876	0.52733	0.52299315	0.68433	0.26861876	0.52732	-9.969	0.73726	D	.	.	0.490	0.66635	A	.;.	.;.	2.063115	0.26232	17.05	0.97853035338544492	0.36412	0.00923	0.03588	N	AEFDBI	0.036526	0.04880	N	-0.353483623604557	0.27144	1.486937	-0.68294563179408	0.17387	0.9243006	0.999545781126453	0.40300	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	0.613	0.16773	0.277000	0.18496	0.326000	0.17235	0.331000	0.19555	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.3496:0.6504	4.457	0.11068	840	0.37365	Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2925.33	34	chr19	41625739	.	T	A	2925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.689;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.743;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1398	18	0	1	0
chr19	41625900	41625900	G	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C125T:p.P42L,CEACAM4:NM_001362495:exon2:c.C125T:p.P42L,CEACAM4:NM_001817:exon2:c.C125T:p.P42L	.	215	1291	16	0	0	16	0.00615858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0039856705986	0.0012	0.00119808	0.0018	0.0002	0.0003	0	0	0.0015	0.0033	0.0069	0.0016559	256	154602	rs148045742	0.0015	0.0015	0.0013	0.0017	0.0082	0.0014	0.0014	0.0066	0.0064	0.0001	0.0004	0.0003	5.038e-05	0.0002	0.0082	0.0012	0.0015	0.0071	0.0010	0.0010	0.0011	0.0010	0.0056	0.0009	0.0008	0.0040	0.0034	0.0002	0	0.0005	0	0	0	0	0.0016	0.0014	0.0056	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.24	0.66834	T	-8.87	0.97888	D	0.206	0.22870	-0.4897	0.69019	T	0.544	0.83208	D	9	0.00583449	0.00130	T	0.003986	0.09431	T	0.113	0.31778	.	.	0.651368938621	0.64847	0.15995245192304647	0.15916	0.202668687371	0.22686	0.285314321518	0.08243	T	0.231281	0.59757	T	-0.393684	0.02546	T	-0.335942	0.40805	T	0.119876057199896	0.14417	T	.	.	.	0.12219163	0.28720	0.12415128	0.29929	0.12219163	0.28719	0.12415128	0.29928	-8.312	0.63176	D	.	.	0.468	0.67221	A	.;.	.;.	1.468730	0.18922	14.00	0.9919974733455057	0.55231	0.01485	0.04937	N	AEFDBI	0.030968	0.03219	N	-0.0433440237286437	0.39899	2.360587	-0.38461111959841	0.25455	1.399978	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	0.651000	0.24559	0.029000	0.13704	0.478000	0.22058	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.000000	0.000000	0.011834	0.000000	0.008621	0.009146	0.003788	0.02632	1394.33	34	chr19	41625900	.	G	A	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.754;SOR=0.757	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1398	18	0	1	0
chr19	41717460	41717460	C	T	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon5:c.C964T:p.P322S,CEACAM5:NM_001308398:exon5:c.C961T:p.P321S,CEACAM5:NM_004363:exon5:c.C964T:p.P322S	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0147912560774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.42e-06	4.087e-06	2.753e-06	3.599e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.273	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.8	0.80474	T	-4.51	0.78222	D	0.073	0.08506	-0.8826	0.49553	T	0.260	0.63033	T	9	0.059197932	0.09945	T	0.014791	0.35134	T	0.035	0.08770	0.338	0.32816	0.469907520169	0.46616	0.2625777536705109	0.26170	0.202852445016	0.22704	0.329460084438	0.14853	T	0.011251	0.10776	T	-0.184446	0.23077	T	-0.502721	0.22065	T	0.108651562974924	0.13283	T	0.844516	0.52185	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.25364	B	.;.;.;.;.	.;.;.;.;.	0.229872	0.06111	2.557	0.33568789118485859	0.02006	0.00063	0.00458	N	AEFGBI	0.028788	0.02600	N	-1.30951473319206	0.03566	0.159496	-1.38800061060622	0.03379	0.1574972	5.43523482069967E-5	0.04171	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.77	-0.859	0.10143	-1.436000	0.02527	-12.830000	0.00497	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5364:0.0:0.4636	5.885	0.18123	835	0.38313	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1898.33	33	chr19	41717460	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.781;DP=787;ExcessHet=0;FS=0.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.05;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	18	0	1	0
chr19	41850634	41850634	C	T	exonic	DMRTC2	.	nonsynonymous SNV	DMRTC2:NM_001040283:exon8:c.C925T:p.R309C	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0151382974224	.	0.000399361	0.0004	0	0	0	0	0.0002	0.0011	0.0022	0.0003558	55	154602	rs570849828	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0	0.0035	0	0	0.0005	3.238e-05	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	2.407e-05	0	0	0.0052	0	0	0	5.881e-05	0	0.0019	0.0	0.91255	D	0.007	0.69154	D	0.066	0.23586	B	0.01	0.14941	B	0.343282	0.13929	N	0.646965	0.975155	0.39165	D	1.35	0.33515	L	1.17	0.37910	T	-1.66	0.39692	N	0.331	0.37197	-0.9891	0.32828	T	0.076	0.30492	T	10	0.0041258633	0.00081	T	0.015138	0.35698	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.17620528844629763	0.17539	0.265104472767	0.29064	0.564645648003	0.47922	T	0.211138	0.57182	T	-0.475531	0.00786	T	-0.462628	0.26314	T	0.152769076024258	0.17322	T	0.789321	0.42944	T	0.28304055	0.51338	0.099242084	0.23687	0.28304055	0.51338	0.099242084	0.23686	-4.251	0.27484	T	.	.	0.132	0.28578	B	.;.	.;.	1.691219	0.21548	15.25	0.97817749172995205	0.36174	0.09116	0.14936	N	AEFBI	0.249117	0.36941	N	-0.417989625751593	0.24839	1.344033	-0.38369808531584	0.25483	1.401657	0.966695435568675	0.28923	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	4.5	2.16	0.26663	0.550000	0.23052	0.061000	0.14131	-0.236000	0.07595	0.268000	0.25027	0.001000	0.17328	0.447000	0.27828	0.2099:0.6801:0.0:0.11	4.871	0.12992	799	0.44747	Doublesex- and mab-3-related transcription factor C1/C2, C-terminal;Doublesex- and mab-3-related transcription factor C1/C2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	812.33	33	chr19	41850634	.	C	T	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=744;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.548;SOR=0.941	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	0	1	0
chr19	41861210	41861210	C	T	exonic	RPS19	.	nonsynonymous SNV	RPS19:NM_001022:exon3:c.C170T:p.A57V,RPS19:NM_001321483:exon3:c.C170T:p.A57V,RPS19:NM_001321484:exon3:c.C170T:p.A57V,RPS19:NM_001321485:exon3:c.C170T:p.A57V	Diamond-Blackfan anemia 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.9993	0.872	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.102418532371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.72224	T	0.083	0.24734	B	0.046	0.24676	B	0.000000	0.84330	D	0.053069	1	0.81001	D	2.095	0.58118	M	-5.19	0.98838	D	.	.	.	0.679	0.68603	-0.6992	0.60476	T	0.231	0.59694	T	9	0.8595521	0.85377	D	0.102419	0.77587	D	.	.	0.854	0.95434	0.832029236404	0.83043	0.7968253661793805	0.79635	0.90808302228	0.70929	0.778936505318	0.78766	T	0.923713	0.98654	D	0.293284	0.82422	D	0.183505	0.82196	D	0.888527810573578	0.53913	D	0.451055	0.69206	T	0.68457866	0.77216	0.4360754	0.67072	0.68457866	0.77218	0.4360754	0.67073	-10.687	0.77913	D	0.18865472079015352	0.24646	0.733	0.76709	P	.;.;.;.;.	.;.;.;.;.	5.936910	0.94118	33	0.99811852889624797	0.89531	0.91047	0.52756	D	AEFDGBHCI	0.917092	0.88422	D	0.102593280628831	0.46583	2.896494	0.21688406269694	0.50782	3.266852	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.57	4.57	0.55860	5.611000	0.67355	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	15.641	0.76759	758	0.50837	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	35	chr19	41861210	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.829;DP=806;ExcessHet=0;FS=3.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.328;SOR=0.951	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	18	0	1	0
chr19	41879134	41879134	C	T	exonic	CD79A	.	nonsynonymous SNV	CD79A:NM_001783:exon2:c.C224T:p.T75M,CD79A:NM_021601:exon2:c.C224T:p.T75M	Agammaglobulinemia 3, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	847733	Agammaglobulinemia_3,_autosomal_recessive	MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0507784510644	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs199967393	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	8.961e-05	0.0004	0	0	0	0.0003	0.0002	6.623e-05	0.0010	0.0001	0.0001	7.709e-05	0.0002	0.0008	7.571e-05	6.277e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	0.198799	0.03304	N	1.611670	1	0.08975	N	2.545	0.74286	M	-0.27	0.83495	T	-1.94	0.45042	N	0.339	0.40063	-0.8176	0.54084	T	0.437	0.77683	T	10	0.040852368	0.02689	T	0.050778	0.64384	D	0.111	0.31313	.	.	0.695827863048	0.69320	0.5087870767544855	0.50800	1.22473152856	0.81168	0.322327494621	0.13773	T	0.454426	0.79398	T	-0.332204	0.05946	T	-0.310563	0.43597	T	0.107463891613838	0.13158	T	0.640436	0.25296	T	0.06258773	0.13090	0.103222735	0.24760	0.06258773	0.13089	0.103222735	0.24760	-7.286	0.56096	T	0.3400259700653841	0.43779	0.321	0.71599	B	.;.;.	.;.;.	2.479153	0.31965	18.90	0.99681018314477998	0.79241	0.06781	0.12804	N	AEFBCI	0.068911	0.13615	N	-0.286790142631961	0.29656	1.646629	-0.486532305239655	0.22524	1.223806	0.999917608058765	0.45857	0.542737	0.22433	0	0.685571	0.66316	0	0.48864	0.07692	0	0.567892	0.33627	0	.	.	5.06	2.94	0.33188	0.045000	0.13898	0.703000	0.20862	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8112:0.0:0.1888	7.713	0.27853	739	0.53257	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6104.83	33	chr19	41879134	.	C	T	6104.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.21;DP=1097;ExcessHet=0.119;FS=1.094;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.446;SOR=0.794	GT:AD:DP:GQ:PL	0/1:138,118:256:99:3015,0,3262	17	0	2	0
chr19	41892723	41892723	T	C	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon6:c.T389C:p.M130T,ARHGEF1:NM_004706:exon7:c.T488C:p.M163T,ARHGEF1:NM_199002:exon7:c.T533C:p.M178T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.663824101816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	0.983	0.60733	D	0.947	0.71530	D	0.000011	0.62929	D	0.104739	0.873757	0.35613	D	2.74	0.80084	M	-1.76	0.83578	D	-4.37	0.77554	D	0.647	0.79889	0.530	0.90962	D	0.658	0.88129	D	10	0.8488637	0.84059	D	0.663824	0.97181	D	0.636	0.86078	0.681	0.81885	0.848769675085	0.84732	0.6166155986214974	0.61593	0.702002171826	0.61195	0.783466815948	0.79452	T	0.699815	0.91347	D	0.165345	0.70694	D	-0.000269884	0.70319	D	0.986820638179779	0.77449	D	0.865813	0.56549	D	0.90985525	0.92281	0.7548901	0.85514	0.90985525	0.92282	0.7548901	0.85515	-7.116	0.66531	T	.	.	0.967	0.95290	P	.;.;.;.;.	.;.;.;.;.	4.372296	0.67324	25.1	0.98945856628465223	0.49036	0.69858	0.34355	D	AEFDBHCI	0.310924	0.41680	N	0.477523787221112	0.65780	4.865703	0.418768704601213	0.62733	4.493985	0.999999975561449	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	2.369000	0.43884	7.756000	0.68219	0.609000	0.47794	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	10.216	0.42345	677	0.60274	Regulator of G protein signalling-like domain|p115RhoGEF, RGS domain;Regulator of G protein signalling-like domain|p115RhoGEF, RGS domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr19	41892723	.	T	C	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.848;DP=693;ExcessHet=0;FS=6.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-0.696;SOR=0.35	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1455	18	0	1	0
chr19	41902802	41902802	C	T	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon17:c.C1543T:p.R515W,ARHGEF1:NM_004706:exon18:c.C1642T:p.R548W,ARHGEF1:NM_199002:exon18:c.C1687T:p.R563W	.	.	.	.	.	.	.	.	.	.	.	1509740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.271559492242	.	.	3.382e-05	0	0	0	0	6.202e-05	0	0	4.53e-05	7	154602	rs782602658	1.985e-05	1.984e-05	2.044e-05	1.927e-05	2.519e-05	1.393e-05	1.204e-05	1.377e-05	1.15e-05	0	0	0	2.519e-05	0	0	2.068e-05	4.969e-05	2.319e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.036	0.43393	D	0.189	0.30143	T	0.877	0.90584	P	0.342	0.82059	B	0.001104	0.40219	N	0.164332	0.984607	0.24786	N	1.545	0.39105	L	-0.11	0.64445	T	-3.25	0.65283	D	0.269	0.37613	-0.6994	0.60467	T	0.296	0.66773	T	10	0.28487206	0.46069	T	0.271559	0.89898	D	0.172	0.43662	0.446	0.50466	0.631262190296	0.62824	0.9031703482746946	0.90290	2.3112671158	0.96577	0.608030200005	0.54037	T	0.688973	0.90938	D	-0.3172	0.07129	T	-0.495095	0.22857	T	0.7845458984375	0.45336	D	0.983102	0.94254	D	0.24232925	0.47159	0.15033348	0.35459	0.24232925	0.47158	0.15033348	0.35458	-7.98	0.60934	D	.	.	0.405	0.61067	A	.;.;.;.;.	.;.;.;.;.	2.362984	0.30314	18.40	0.99526692513196113	0.69591	0.54902	0.29730	D	AEFBI	0.502298	0.53477	D	-0.590908542884802	0.19220	1.004184	-0.815714379425151	0.14115	0.7358536	0.902127945034692	0.26118	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.53	-2.57	0.05885	0.856000	0.27473	-0.441000	0.09160	-0.180000	0.10397	0.005000	0.17040	0.000000	0.08366	0.514000	0.29336	0.5305:0.3903:0.0:0.0791	7.845	0.28582	654	0.62520	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1493.33	40	chr19	41902802	.	C	T	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=788;ExcessHet=0;FS=1.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.884;SOR=0.555	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1481	18	0	1	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	194.16	35	chr19	42095395	.	A	G	194.16	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.584;DP=1387;ExcessHet=2.0135;FS=70.383;InbreedingCoeff=-0.1719;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-0.429;SOR=9.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,8:66:3:.:.:3,0,2104:.	13	0	6	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,13:64:99:.:.:126,0,1114:.	9	0	7	3
chr19	42225746	42225746	C	G	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.C1343G:p.S448C,ZNF526:NM_133444:exon3:c.C1343G:p.S448C	.	1	1515	5	1	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.168900059071	7.7e-05	.	0.0003	0	0	0	0	7.937e-05	0	0.0017	0.0002135	33	154602	rs375365588	0.0001	0.0001	7.659e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0.0001	0	0	0	0.0009	2.435e-05	0.0001	0.0015	6.636e-05	6.603e-05	5.187e-05	8.155e-05	0.0013	3.55e-05	2.74e-05	0.0006	0.0004	2.428e-05	0	0	0	0	0	0	4.439e-05	0	0.0013	0.085	0.32769	T	0.007	0.69154	D	0.833	0.46172	P	0.557	0.49454	P	0.101808	0.02554	N	2.070020	1	0.08975	N	1.78	0.46185	L	-1.17	0.78199	T	-3.07	0.63207	D	0.25	0.28264	-0.6405	0.63124	T	0.474	0.79800	T	10	0.043599367	0.03227	T	0.169	0.84687	D	0.343	0.66488	.	.	0.744868491062	0.74257	0.25657465678519664	0.25571	0.726517213602	0.62515	0.732311427593	0.71844	T	0.168333	0.51530	T	-0.373021	0.03444	T	-0.338674	0.40494	T	0.0929678740025025	0.11566	T	0.387161	0.09535	T	0.101342194	0.23937	0.105263256	0.25301	0.101342194	0.23937	0.105263256	0.25300	-7.029	0.54245	T	0.18805742168559167	0.24543	0.209	0.43585	B	.	.	2.888267	0.38240	20.7	0.9070336021829436	0.19954	0.10003	0.15626	N	AEFDBI	0.053924	0.09760	N	-0.231110832952674	0.31863	1.79101	-0.382746171988404	0.25511	1.403405	0.96513857846795	0.28810	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.59	1.14	0.19817	-0.089000	0.11146	1.790000	0.28791	0.594000	0.32500	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.1704:0.4999:0.3297:0.0	8.105	0.30040	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1149.33	43	chr19	42225746	.	C	G	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=834;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.672;SOR=1.013	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	18	0	1	0
chr19	42226169	42226169	G	A	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.G1766A:p.R589Q,ZNF526:NM_133444:exon3:c.G1766A:p.R589Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0146818896387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.183e-06	6.156e-06	6.837e-06	5.521e-06	2.987e-05	2.91e-06	2.11e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.497e-06	1.657e-05	1.159e-05	6.568e-06	6.566e-06	0	1.344e-05	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.293	0.14843	T	0.055	0.46862	T	0.962	0.55554	D	0.574	0.49998	P	0.000918	0.41128	D	0.093761	0.999714	0.20609	N	0.855	0.21307	L	3.03	0.08898	T	-0.45	0.14782	N	0.128	0.12198	-0.9801	0.34979	T	0.018	0.07329	T	10	0.10565543	0.19541	T	0.014682	0.34954	T	0.067	0.19503	.	.	0.258779203287	0.25495	0.2433483906742224	0.24248	1.03528784533	0.75562	0.806554198265	0.82963	D	0.014733	0.12488	T	-0.274688	0.11240	T	-0.632347	0.10237	T	0.388543125825671	0.28509	T	0.226077	0.02982	T	0.026919927	0.01812	0.030351589	0.01479	0.026919927	0.01812	0.030351589	0.01479	-4.712	0.33549	T	.	.	0.361	0.57280	A	.	.	4.037937	0.59763	24.1	0.99211017725666806	0.55594	0.14054	0.18197	N	AEFDBCI	0.047972	0.08137	N	-0.642781263696947	0.17670	0.911284	-0.773387669630144	0.15149	0.7952665	0.808413803996531	0.24311	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.73	1.34	0.21018	-0.196000	0.09533	7.503000	0.59513	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.996000	0.76049	0.3587:0.0:0.6413:0.0	7.283	0.25494	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1934.33	43	chr19	42226169	.	G	A	1934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.942;DP=848;ExcessHet=0;FS=5.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.77;SOR=0.692	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	18	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1598.83	35	chr19	42271989	.	G	A	1598.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.85;DP=693;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.373;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	17	0	2	0
chr19	42272064	42272064	A	G	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.A281G:p.K94R,CIC:NM_001379480:exon2:c.A281G:p.K94R,CIC:NM_001379482:exon2:c.A281G:p.K94R	.	409	1112	1	0	0	1	0.000449438	.	.	.	1291899	Intellectual_disability,_autosomal_dominant_45|not_provided	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.218647824824	.	0.00159744	0	0	.	.	.	0	.	.	0.0005763	15	26028	rs539540626	0.0003	0.0002	0.0002	0.0003	0.0151	0.0002	0.0002	0.0116	0.0104	0	0	0	0	4.797e-05	0.0008	6.316e-05	0.0002	0.0151	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	4.811e-05	0	0	0	0	0	0	1.471e-05	0	0.0116	.	.	.	0.374	0.16280	T	.	.	.	.	.	.	.	.	.	.	0.992264	0.23909	N	.	.	.	-5.05	0.98611	D	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.011375397	0.00249	T	0.218648	0.87669	D	.	.	.	.	0.82735623235	0.82572	.	.	.	.	.	.	.	0.005915	0.34783	T	0.144599	0.68761	D	-0.03007	0.68364	D	.	.	.	0.735926	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.18622	B	.;.	.;.	3.903518	0.56875	23.8	0.98988730009747605	0.49902	0.83150	0.42292	D	AEFBCI	0.354588	0.44661	N	.	.	.	.	.	.	0.999999993524844	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	4.845000	0.62551	11.130000	0.86775	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	11.333	0.48723	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	35	chr19	42272064	.	A	G	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.386;DP=721;ExcessHet=0;FS=0.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.361;SOR=0.548	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	18	0	1	0
chr19	42272348	42272348	C	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C565A:p.P189T,CIC:NM_001379480:exon2:c.C565A:p.P189T,CIC:NM_001379482:exon2:c.C565A:p.P189T	.	493	1016	13	0	0	13	0.00635697	.	.	.	1687354	not_specified|CIC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs543498277	0.0017	0.0008	0.0018	0.0016	0.0131	0.0016	0.0015	0.0084	0.0069	0.0007	0.0028	0.0042	0	0.0006	0.0131	0.0018	0.0019	0.0082	0.0015	0.0015	0.0014	0.0016	0.0089	0.0013	0.0013	0.0068	0.0060	0.0003	0	0.0031	0.0020	0	0.0006	0.0136	0.0015	0.0019	0.0089	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	.	.	.	.	0.994921	0.23412	N	.	.	.	-5.06	0.98629	D	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.011315763	0.00248	T	.	.	.	.	.	.	.	0.62136615551	0.61829	.	.	.	.	.	.	.	0.012308	0.10839	T	-0.219127	0.18111	T	-0.100767	0.63339	T	.	.	.	0.640436	0.25296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	2.520873	0.32578	19.08	0.98787946920913361	0.46237	0.76396	0.37464	D	AEFBCI	0.107073	0.21344	N	.	.	.	.	.	.	0.999994729941838	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	1.91	0.24841	1.927000	0.39724	2.635000	0.33717	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.659000	0.32940	0.1765:0.7262:0.0:0.0973	6.711	0.22466	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1545.33	35	chr19	42272348	.	C	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=752;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=1.29;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	18	0	1	0
chr19	42272727	42272727	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C944T:p.P315L,CIC:NM_001379480:exon2:c.C944T:p.P315L,CIC:NM_001379482:exon2:c.C944T:p.P315L	.	447	1071	3	1	0	5	0.00232883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142705908083	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs549319050	4.053e-05	5.725e-05	1.645e-05	6.392e-05	0.0020	2.147e-05	1.592e-05	0.0009	0.0006	0	0	0	0	9.591e-05	0	6.315e-06	6.104e-05	0.0020	0.0001	0.0001	8.997e-05	0.0002	0.0023	8.663e-05	7.255e-05	0.0013	0.0010	4.816e-05	0	6.536e-05	0	0	0.0003	0	4.412e-05	0	0.0023	.	.	.	0.291	0.20944	T	.	.	.	.	.	.	.	.	.	.	0.982598	0.24951	N	.	.	.	-5.01	0.98544	D	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.056588054	0.06366	T	0.142706	0.82506	D	.	.	.	.	0.743446234346	0.74114	.	.	.	.	.	.	.	0.01098	0.09851	T	0.0342519	0.56289	T	-0.188576	0.55723	T	.	.	.	0.59804	0.22252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04764	B	.	.	2.158366	0.27497	17.48	0.6432781144743408	0.07463	0.39123	0.26142	N	AEFBCI	0.064360	0.12493	N	.	.	.	.	.	.	0.998089954543314	0.36406	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	3.93	2.86	0.32427	1.255000	0.32512	2.575000	0.33385	0.599000	0.40250	0.135000	0.23427	0.171000	0.23343	0.659000	0.32940	0.2229:0.7771:0.0:0.0	8.894	0.34612	658	0.62094	Domain of unknown function DUF4819	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	35	chr19	42272727	.	C	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.54;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.013;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	18	0	1	0
chr19	42323788	42323788	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon14:c.C1442T:p.S481F,TMEM145:NM_173633:exon14:c.C1400T:p.S467F	.	392	1117	11	2	0	15	0.00666963	0.0090	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0962297514473	0.0016	0.000998403	0.0027	0.0006	0.0007	0	0.0056	0.0040	0.0045	0.0004	0.0027619	427	154602	rs141686253	0.0036	0.0036	0.0036	0.0035	0.0052	0.0035	0.0034	0.0040	0.0039	0.0007	0.0009	0.0026	0	0.0056	0.0052	0.0041	0.0024	0.0006	0.0025	0.0025	0.0026	0.0025	0.0038	0.0023	0.0022	0.0034	0.0032	0.0009	0	0.0013	0.0029	0	0.0053	0.0068	0.0038	0.0014	0.0002	0.006	0.61437	D	0.014	0.62352	D	0.172	0.28767	B	0.125	0.32635	B	0.415242	0.12942	N	0.677448	0.810001	0.29012	N	0	0.06538	N	0.86	0.46777	T	-1.55	0.37566	N	0.366	0.40765	-0.9469	0.41498	T	0.070	0.28544	T	10	0.0069538653	0.00158	T	0.09623	0.76566	D	0.040	0.10527	.	.	0.191931220699	0.18833	0.3538110497844103	0.35295	0.600012020098	0.55096	0.663295865059	0.61880	T	0.034469	0.23334	T	-0.47633	0.00777	T	-0.457272	0.26896	T	0.0311196801736275	0.02166	T	0.513749	0.16498	T	0.2865471	0.51669	0.17153054	0.39343	0.2865471	0.51669	0.17153054	0.39342	-4.496	0.30836	T	.	.	0.160	0.35310	B	.	.	3.826002	0.55270	23.6	0.98745400906206238	0.45572	0.83226	0.42361	D	AEFBCI	0.373470	0.45873	N	-0.226767731109904	0.32038	1.802689	-0.141023028037288	0.33756	1.934259	0.99875946470281	0.37602	0.72623	0.87236	0	0.627178	0.54094	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.83	1.46	0.21769	1.075000	0.30328	4.307000	0.42958	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.5457:0.4543:0.0	9.586	0.38684	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.016304	0.008772	0.000000	0.000000	0.009146	0.000000	0.02632	955.33	43	chr19	42323788	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.352;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.39;SOR=0.835	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1389	18	0	1	0
chr19	42356932	42356932	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon26:c.G4580A:p.R1527H,MEGF8:NM_001271938:exon27:c.G4781A:p.R1594H	Carpenter syndrome 2, Autosomal recessive	427	1070	24	1	0	26	0.0120037	.	.	.	689093	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.00159744	0.0026	0.0001	0.0013	0.0002	0	0.0011	0.0017	0.0134	0.0016947	262	154602	rs141153248	0.0012	0.0012	0.0009	0.0016	0.0105	0.0012	0.0012	0.0099	0.0097	0.0002	0.0007	0.0013	2.524e-05	3.767e-05	0.0056	0.0006	0.0018	0.0105	0.0008	0.0008	0.0008	0.0008	0.0089	0.0007	0.0006	0.0068	0.0061	0.0002	0	0.0007	0.0009	0.0002	9.413e-05	0.0034	0.0007	0.0019	0.0089	0.143	0.29823	T	0.084	0.41239	T	0.983	0.68779	D	0.674	0.53247	P	0.187750	0.16930	N	0.566253	0.972712	0.25586	N	0.345	0.11182	N	0.02	0.62318	T	-1.41	0.35399	N	0.376	0.41853	-0.8539	0.51696	T	0.170	0.51085	T	10	0.009688765	0.00218	T	.	.	.	0.256	0.56694	.	.	0.279809986126	0.27602	0.32000660293560446	0.31913	1.05125465116	0.76159	0.461723268032	0.33547	T	0.090227	0.38540	T	-0.399944	0.02317	T	-0.337873	0.40585	T	0.0136652380643093	0.00254	T	0.674133	0.28269	T	0.034723204	0.03952	0.032070026	0.01886	0.031214708	0.02919	0.037747607	0.03493	-6.967	0.53792	T	.	.	0.095	0.15025	B	.;.	.;.	3.787117	0.54485	23.5	0.99895656136967415	0.96895	0.64004	0.32268	D	AEFBI	0.109442	0.21737	N	0.0566823352534436	0.44451	2.718874	0.107243054330615	0.44917	2.764371	0.0408702364229687	0.14459	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	4.29	0.50359	2.516000	0.45181	3.993000	0.41005	-0.106000	0.15538	0.902000	0.31475	1.000000	0.68203	0.981000	0.58702	0.1697:0.1602:0.6701:0.0	5.825	0.17806	551	0.72115	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010595	0.000000	0.005435	0.005848	0.000000	0.008621	0.033951	0.011364	0.02632	1026.33	35	chr19	42356932	.	G	A	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.653;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	18	0	1	0
chr19	42402689	42402691	GAG	-	exonic	LIPE	.	nonframeshift deletion	LIPE:NM_005357:exon9:c.2883_2885del:p.S962del	Lipodystrophy, familial partial, type 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.000599042	0.0003	0	0	0	0	6.26e-05	0.0013	0.0036	0.0002911	45	154602	rs372004452	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.303e-05	6.502e-05	0	7.83e-05	0	0.0006	8.952e-05	0.0002	0.0028	0.0002	0.0002	0.0002	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	7.231e-05	0	0	0	0	0	0	7.355e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1015.29	38	chr19	42402688	.	TGAG	T	1015.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=0.374;SOR=0.62	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	42433056	42433056	C	T	exonic	CXCL17	.	nonsynonymous SNV	CXCL17:NM_198477:exon3:c.G182A:p.R61K	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00167731724513	.	.	8.284e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs745783734	6.842e-06	6.84e-06	8.169e-06	5.501e-06	0.0002	3.46e-06	2.52e-06	.	.	0	0	0	0	0.0001	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.107104	0.19585	N	0.432753	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	-0.9834	0.34211	T	0.029	0.12234	T	9	0.043233007	0.03151	T	0.001677	0.02779	T	.	.	0.197	0.10975	0.0297737177859	0.01360	0.03354081416504028	0.03302	0.15012103206	0.16931	0.344484329224	0.17107	T	0.011552	0.10295	T	-0.327058	0.06336	T	-0.707573	0.05422	T	0.0329737641991612	0.02467	T	0.355564	0.08068	T	0.043636177	0.06835	0.05352026	0.09029	0.043636177	0.06834	0.05352026	0.09028	-3.442	0.15628	T	.	.	0.067	0.02488	B	.	.	-0.063346	0.03865	0.838	0.35946908683419909	0.02285	0.00461	0.02221	N	AEFBI	0.020782	0.00855	N	-1.37462928545525	0.02877	0.1277004	-1.36374394720818	0.03647	0.1705288	0.0174581711359938	0.12952	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.631631	0.49550	0	.	.	3.9	-0.46	0.11567	-0.131000	0.10461	-1.781000	0.04738	-0.347000	0.05626	0.070000	0.22072	0.000000	0.08366	0.645000	0.32557	0.0:0.493:0.0:0.507	7.112	0.24574	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	40	chr19	42433056	.	C	T	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.507;DP=694;ExcessHet=0;FS=2.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.291;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	18	0	1	0
chr19	42733028	42733028	G	T	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon3:c.C465A:p.N155K	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	7.7e-05	0.00299521	0.0015	0.0002	0	0	0	2.997e-05	0	0.0111	0.0013454	208	154602	rs371709630	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	0.0001	4.472e-05	0	0	3.744e-05	0.0007	2.608e-05	0.0008	0.0101	0.0005	0.0005	0.0003	0.0006	0.0135	0.0004	0.0003	0.0109	0.0099	2.408e-05	0	0	0	0	0	0	4.411e-05	0	0.0135	0.04	0.42199	D	0.057	0.49942	T	0.0	0.02946	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	2.54	0.74080	M	3.07	0.08547	T	-3.67	0.70191	D	0.084	0.06454	-0.9888	0.32903	T	0.027	0.11618	T	9	0.0038850307	0.00074	T	.	.	.	0.024	0.04979	0.365	0.37199	0.230578612272	0.22657	0.05315956693181324	0.05257	0.00315874859178	0.00272	0.434398978949	0.29810	T	0.034183	0.33658	T	-0.72779	0.00025	T	-0.808802	0.01692	T	0.0209267453478754	0.00793	T	0.627737	0.24556	T	0.11937455	0.28109	0.09321106	0.22005	0.11937455	0.28109	0.09321106	0.22004	-7.469	0.57392	T	.	.	0.208	0.44847	B	.;.;.	.;.;.	0.767012	0.11369	7.984	0.89692995166051925	0.19017	0.00500	0.02358	N	AEFBI	0.028645	0.02562	N	-0.890552452434949	0.11066	0.5320809	-1.05388338464607	0.08626	0.4250551	1.723591011047E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.59	0.461	0.15901	-0.007000	0.12747	-1.271000	0.05852	-1.304000	0.01241	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	4.019	0.09144	423	0.81269	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003181	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3038.33	36	chr19	42733028	.	G	T	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=883;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.43;MQRankSum=-9.831;QD=12.1;ReadPosRankSum=0.3;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	18	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.02632	2509.33	39	chr19	42754576	.	G	A	2509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.45;DP=825;ExcessHet=0;FS=14.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.57;MQRankSum=-0.903;QD=15.78;ReadPosRankSum=-0.362;SOR=0.182	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1244	18	0	1	0
chr19	42755032	42755032	T	C	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon3:c.A578G:p.Q193R,PSG8:NM_001130167:exon4:c.A944G:p.Q315R,PSG8:NM_182707:exon4:c.A944G:p.Q315R	.	11	1315	179	15	2	211	0.0736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000394207581369	.	.	0.0002	0.0006	0.0002	0.0002	0	0.0002	0	0.0002	0.0001811	28	154602	rs11879884	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0.0003	0.0038	7.557e-05	7.488e-05	0.0004	0.0001	0.0005	0.0003	0.0005	0.0006	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0005	0.0058	0	0	0	0.0002	0.0010	0.0004	0.67	0.38185	T	0.429	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.7	0.12162	T	0.21	0.15782	N	0.022	0.01347	-0.9413	0.42410	T	0.010	0.03673	T	9	0.013171405	0.00280	T	3.94E-4	0.00065	T	0.003	0.00094	0.37	0.38013	0.0297737177859	0.01360	0.04391796341383173	0.04335	0.00655855936216	0.00574	0.322529703379	0.13804	T	8.1E-5	0.00008	T	-0.674596	0.00052	T	-0.809263	0.01682	T	0.00166208871933183	0.00017	T	0.126587	0.00987	T	0.031723537	0.03065	0.036050398	0.02974	0.031723537	0.03065	0.036050398	0.02974	-3.146	0.29557	T	.	.	0.053	0.01309	B	.;.;.;.	.;.;.;.	-0.957880	0.00833	0.028	0.095571597598094443	0.00100	0.00148	0.00897	N	AEFI	0.022291	0.01096	N	-2.06944423764149	0.00149	0.006394159	-2.09591618087471	0.00190	0.008370309	4.14978639671944E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	0.002000	0.12962	-1.238000	0.05941	-3.526000	0.00078	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2929:0.4319:0.2752	3.579	0.07497	426	0.81110	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	21229.5	357	chr19	42755032	.	T	C	21229.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.729;DP=1817;ExcessHet=0.0506;FS=0.547;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=56.1;MQRankSum=-6.763;QD=17.52;ReadPosRankSum=0.492;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1188	18	0	1	0
chr19	42906948	42906948	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon5:c.C1214T:p.S405F,PSG6:NM_002782:exon5:c.C1214T:p.S405F	.	10	1509	3	0	0	3	0.000993049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00104402999787	0.0002	.	0.0005	9.619e-05	0.0003	0	0	0.0007	0	0.0001	0.0003816	59	154602	rs199507024	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0002	2.989e-05	0.0001	0.0082	0	0	0.0009	0.0001	0.0010	0.0001	0.0003	0.0003	0.0002	0.0003	0.0001	0.0002	0.0002	7.924e-05	6.005e-05	4.851e-05	0	0	0.0075	0	0	0	0.0001	0.0005	0	0.016	0.53172	D	0.05	0.59159	T	0.005	0.33029	B	0.044	0.36557	B	.	.	.	.	1	0.08975	N	2.415	0.69758	M	2.07	0.20387	T	-2.11	0.53577	N	0.176	0.29313	-0.9918	0.32141	T	0.071	0.28839	T	9	0.008209318	0.00186	T	0.001044	0.01167	T	0.084	0.24469	.	.	0.0401082797425	0.02173	0.021276936797534368	0.02080	.	.	.	.	.	0.022392	0.17269	T	-0.373759	0.03408	T	-0.495221	0.22845	T	0.022675508633256	0.00985	T	0.726327	0.34071	T	0.10680408	0.25254	0.06906745	0.14504	0.10680408	0.25254	0.06906745	0.14504	-7.096	0.55302	T	.	.	0.151	0.43707	B	.;.;.	.;.;.	0.547728	0.09163	5.946	0.95219951279096782	0.26438	0.00659	0.02856	N	AEFI	0.030884	0.03191	N	-0.850942586675749	0.12027	0.5837776	-1.04914395874227	0.08724	0.430382	1.33887363472806E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.21	0.14507	0.034000	0.13663	-2.124000	0.04177	-0.676000	0.04273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.362:0.638:0.0	5.402	0.15599	684	0.59539	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3628.33	33	chr19	42906948	.	G	A	3628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=920;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=-0.989;QD=13.59;ReadPosRankSum=1.03;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	18	0	1	0
chr19	42907807	42907807	C	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.G754C:p.E252Q,PSG6:NM_002782:exon4:c.G754C:p.E252Q	.	11	1503	7	1	0	9	0.00298507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.000805790385537	0.0002	0.000399361	0.0004	9.61e-05	0.0003	0	0	0.0005	0.0033	0.0004	0.0004204	65	154602	rs146009558	0.0008	0.0008	0.0009	0.0008	0.0018	0.0008	0.0008	0.0010	0.0009	0.0003	0.0003	3.831e-05	0	5.617e-05	0.0018	0.0010	0.0006	0.0002	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0004	0.0003	0	0	0	0.0007	0	0.0002	0.239	0.18061	T	0.013	0.64786	D	1.0	0.90584	D	0.997	0.88582	D	.	.	.	.	1	0.18878	N	3.175	0.88760	M	1.3	0.46028	T	-1.82	0.42763	N	0.273	0.30914	-0.8397	0.52666	T	0.280	0.65139	T	9	0.050566345	0.04807	T	8.06E-4	0.00629	T	0.167	0.42761	.	.	0.443999229985	0.44019	0.16067935597719218	0.15988	.	.	.	.	.	0.011609	0.10331	T	-0.388784	0.02739	T	-0.395992	0.33850	T	0.063699370804634	0.07738	T	0.665033	0.30785	T	0.0608452	0.12532	0.03611847	0.02995	0.0608452	0.12531	0.03611847	0.02994	-8.185	0.62499	D	.	.	0.206	0.45859	B	.;.;.	.;.;.	0.829133	0.12004	8.563	0.96834728514430679	0.31278	0.01603	0.05200	N	AEFGI	0.031121	0.03262	N	-0.143136194267732	0.35527	2.041789	-0.51346978547306	0.21788	1.180265	1.96522938601365E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.790000	0.26562	2.250000	0.31680	0.423000	0.20817	0.006000	0.17386	0.700000	0.26228	0.001000	0.02609	0.0:1.0:0.0:0.0	6.293	0.20277	693	0.58582	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001175	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4968.33	36	chr19	42907807	.	C	G	4968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=1010;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.208;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	18	0	1	0
chr19	42907832	42907832	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.C729G:p.I243M,PSG6:NM_002782:exon4:c.C729G:p.I243M	.	11	1508	3	0	0	3	0.000993707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.000698753794423	7.7e-05	.	9.9e-05	0	0.0003	0	0	0.0001	0	0	7.76e-05	12	154602	rs200331954	5.479e-05	5.474e-05	4.77e-05	6.196e-05	0.0006	4.482e-05	4.152e-05	0.0002	8.253e-05	2.991e-05	0.0001	0.0004	0	0	0.0006	3.96e-05	0.0002	2.325e-05	3.301e-05	3.286e-05	5.159e-05	1.352e-05	4.419e-05	1.265e-05	8.01e-06	1.173e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.419e-05	0.0005	0	0.03	0.45756	D	0.006	0.70582	D	0.994	0.90584	D	0.985	0.92359	D	.	.	.	.	1	0.18198	N	3.07	0.87108	M	1.35	0.45248	T	-1.62	0.38924	N	0.335	0.37613	-0.8443	0.52359	T	0.282	0.65428	T	9	0.09505439	0.16949	T	6.99E-4	0.00435	T	0.144	0.38394	.	.	0.185906805712	0.18197	0.16668241154940305	0.16588	.	.	.	.	.	0.01259	0.11036	T	-0.304553	0.08236	T	-0.4202	0.31053	T	0.235598683357239	0.22216	T	0.947205	0.79675	D	0.11363789	0.26835	0.09052298	0.21232	0.11363789	0.26835	0.09052298	0.21232	-5.765	0.44268	T	.	.	0.151	0.43489	B	.;.;.	.;.;.	1.558201	0.19961	14.52	0.99077758116839598	0.51882	0.01402	0.04750	N	AEFGI	0.028759	0.02592	N	-0.0941516977652303	0.37649	2.193418	-0.459207456382941	0.23287	1.269199	1.96522938601365E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.487000	0.22064	1.174000	0.24646	0.474000	0.21982	0.005000	0.17040	0.007000	0.19602	0.008000	0.08271	0.0:0.0:1.0:0.0	6.293	0.20277	693	0.58582	.;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000590	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3655.33	36	chr19	42907832	.	G	C	3655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=930;ExcessHet=0;FS=2.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.202;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	18	0	1	0
chr19	42916256	42916256	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C296G:p.T99R,PSG6:NM_002782:exon2:c.C296G:p.T99R	.	10	1498	14	0	0	14	0.00465116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0026	0.00499201	0.0047	0.0008	0.0008	0	0.0003	0.0034	0.0055	0.0195	0.0044695	691	154602	rs143569741	0.0046	0.0046	0.0042	0.0049	0.0195	0.0045	0.0044	0.0187	0.0184	0.0007	0.0012	0.0011	5.044e-05	0.0003	0.0038	0.0041	0.0044	0.0195	0.0027	0.0027	0.0025	0.0028	0.0169	0.0025	0.0024	0.0139	0.0128	0.0010	0.0066	0.0008	0.0006	0	0.0003	0	0.0038	0.0028	0.0169	0.042	0.41637	D	0.069	0.43913	T	0.005	0.30614	B	0.024	0.41696	B	.	.	.	.	1	0.08975	N	2.625	0.76847	M	-0.25	0.67011	T	-3.06	0.72820	D	0.148	0.18920	-0.7183	0.59546	T	0.264	0.63480	T	9	0.0034293234	0.00060	T	.	.	.	0.086	0.25016	.	.	0.192905019026	0.18896	0.14506165333442325	0.14429	.	.	.	.	.	0.059195	0.31049	T	-0.449284	0.01140	T	-0.415807	0.31556	T	0.0544640921644639	0.06267	T	0.682432	0.29103	T	0.17627425	0.38532	0.13637933	0.32628	0.17627425	0.38531	0.13637933	0.32627	-7.364	0.56650	T	.	.	0.073	0.10835	B	.;.;.;.	.;.;.;.	0.006133	0.04325	1.097	0.90573760340463183	0.19828	0.00464	0.02234	N	AEFGI	0.040070	0.05907	N	-0.932405512763169	0.10090	0.4805695	-1.08778951031158	0.07940	0.3882797	3.33166649766369E-4	0.06583	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.24	-0.0342	0.13225	-2.360000	0.01163	-14.273000	0.00412	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.409:0.0:0.591:0.0	3.946	0.08844	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003821	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.015504	0.02632	6291.33	33	chr19	42916256	.	G	C	6291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.44;DP=3688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.477;QD=12.68;ReadPosRankSum=0.097;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chr19	42935721	42935721	A	G	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_002783:exon2:c.T113C:p.I38T	.	10	1510	1	1	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs1387014907	9.995e-05	0.0001	9.4e-05	0.0001	0.0009	8.652e-05	8.14e-05	0.0003	0.0003	2.989e-05	0.0005	0	0	0	0.0009	9.719e-05	0.0002	0	9.259e-05	9.195e-05	9.049e-05	9.478e-05	0.0001	5.562e-05	4.392e-05	7.935e-05	6.013e-05	4.86e-05	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	0.039	0.51112	D	0.96	0.55278	D	0.955	0.69585	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.21056	.	.	.	.	.	.	.	0.037228853	0.02065	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	0.094994	0.39530	T	-0.261153	0.12766	T	-0.265733	0.48250	T	.	.	.	0.724128	0.33779	T	0.066462256	0.14303	0.12818275	0.30844	0.066462256	0.14303	0.12818275	0.30843	-6.201	0.47931	T	.	.	0.117	0.23744	B	.;.	.;.	2.103161	0.26757	17.23	0.97392712181726493	0.33731	0.01026	0.03852	N	AEFBI	0.019652	0.00702	N	.	.	.	.	.	.	0.00135162203020229	0.08470	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	1.41	0.331	0.15174	0.677000	0.24942	3.765000	0.39732	0.513000	0.23382	0.007000	0.17678	0.059000	0.21998	0.002000	0.04165	0.7542:0.0:0.2458:0.0	3.363	0.06773	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000534	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3560.33	78	chr19	42935721	.	A	G	3560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.324;DP=1707;ExcessHet=0;FS=0.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.75;MQRankSum=2.12;QD=12.19;ReadPosRankSum=-1.076;SOR=0.656	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,100,1800	18	0	1	0
chr19	43018956	43018956	C	T	exonic	PSG11	.	nonsynonymous SNV	PSG11:NM_001113410:exon2:c.G157A:p.D53N,PSG11:NM_203287:exon2:c.G157A:p.D53N,PSG11:NM_002785:exon3:c.G523A:p.D175N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00105987157395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267022883	4.792e-06	4.79e-06	4.087e-06	5.505e-06	8.133e-05	1.99e-06	1.28e-06	3.773e-05	2.666e-05	0	0	0	0	0	0	0	0	8.133e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.03674	T	0.545	0.09588	T	0.003	0.11197	B	0.093	0.30104	B	.	.	.	.	1	0.08975	N	0.38	0.12130	N	2.68	0.12371	T	-1.67	0.39887	N	0.152	0.15609	-0.9344	0.43485	T	0.012	0.04747	T	8	0.05864039	0.06926	T	0.00106	0.01215	T	0.018	0.03083	0.332	0.31843	0.221734844693	0.21761	0.06298049032759721	0.06237	.	.	.	.	.	0.006006	0.05450	T	-0.552326	0.00282	T	-0.849626	0.00964	T	0.0581422553156064	0.06873	T	0.627137	0.24302	T	0.047050565	0.07978	0.06753293	0.13984	0.047050565	0.07978	0.06753293	0.13983	-1.194	0.01663	T	.	.	0.070	0.13456	B	.;.;.	.;.;.	-0.711992	0.01293	0.069	0.12087814356805068	0.00200	0.00109	0.00694	N	AEFI	0.034642	0.04326	N	-1.59606203991609	0.01284	0.05590272	-1.66063620720745	0.01322	0.05964777	3.09648023882633E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.866	0.10118	-2.929000	0.00755	-20.000000	0.00162	-3.588000	0.00073	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	709	0.56835	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5589.33	39	chr19	43018956	.	C	T	5589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1083;ExcessHet=0;FS=7.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.321;SOR=1.015	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr19	43026329	43026329	C	G	exonic	PSG11	.	nonsynonymous SNV	PSG11:NM_001113410:exon1:c.G44C:p.W15S,PSG11:NM_002785:exon1:c.G44C:p.W15S,PSG11:NM_203287:exon1:c.G44C:p.W15S	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.000816253472572	.	.	.	.	.	.	.	.	.	.	.	.	.	rs149116740	8.22e-06	8.893e-06	6.815e-06	9.639e-06	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.002e-07	1.66e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.78490	D	0.194	0.61642	T	0.999	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.185	0.88900	M	2.23	0.38718	T	-0.73	0.98332	N	0.428	0.46742	-0.9157	0.46129	T	0.214	0.57534	T	9	0.38776675	0.54667	T	8.16E-4	0.00649	T	0.071	0.20720	0.742	0.87401	0.441221003447	0.43743	0.0603956120746964	0.05979	.	.	.	.	.	0.087349	0.37923	T	-0.212501	0.19028	T	-0.361492	0.37880	T	0.390874421669296	0.28597	T	0.764224	0.39120	T	0.22203362	0.44794	0.24694814	0.50214	0.22203362	0.44794	0.24694814	0.50213	-1.767	0.54471	T	.	.	0.346	0.56298	A	.;.;.;.	.;.;.;.	1.567589	0.20075	14.58	0.8356210495661256	0.14794	0.01631	0.05259	N	AEFI	0.048662	0.08327	N	-0.299711144775219	0.29161	1.614608	-0.629634829374568	0.18733	1.002058	6.65645774153499E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	0.590000	0.23655	0.508000	0.19055	0.429000	0.20894	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.209	0.14627	710	0.56735	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3411.33	33	chr19	43026329	.	C	G	3411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.608;DP=1869;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=-4.644;QD=15.79;ReadPosRankSum=1.01;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:116,0:116:99:.:.:0,120,1800:.	18	0	1	0
chr19	43071912	43071912	T	C	exonic	PSG2	.	nonsynonymous SNV	PSG2:NM_031246:exon4:c.A752G:p.Y251C	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.000739667134836	.	0.000199681	0.0004	0	8.639e-05	0	0	1.499e-05	0	0.0029	0.0003299	51	154602	rs568375117	0.0002	0.0002	8.99e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	9.898e-06	0.0003	0.0027	0.0002	0.0002	7.742e-05	0.0003	0.0058	0.0001	0.0001	0.0042	0.0036	0	0	6.556e-05	0	0	0	0	1.472e-05	0.0005	0.0058	0.011	0.55530	D	0.002	0.79402	D	0.988	0.62325	D	0.961	0.70482	D	.	.	.	.	1	0.08975	N	3.135	0.88152	M	2.65	0.12676	T	-7.06	0.93879	D	0.412	0.45237	-1.0471	0.15217	T	0.113	0.40261	T	9	0.013878465	0.00293	T	7.4E-4	0.00510	T	0.070	0.20419	0.35	0.34760	0.355242300401	0.35136	0.11384317265024081	0.11312	0.0397869265571	0.04249	0.441308796406	0.30756	T	0.022733	0.17472	T	-0.4756	0.00785	T	-0.460558	0.26537	T	0.237919435971134	0.22323	T	0.980535	0.93361	D	0.49859527	0.67013	0.40917033	0.65213	0.49859527	0.67014	0.40917033	0.65213	-7.658	0.58715	D	.	.	0.306	0.53456	B	.	.	2.009051	0.25529	16.79	0.96252811585674669	0.29189	0.00872	0.03453	N	AEFI	0.050618	0.08864	N	-0.164976878530283	0.34600	1.976857	-0.528779799928602	0.21373	1.155889	3.13228794414333E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	1.26	0.20534	0.981000	0.29124	.	.	0.341000	0.19778	0.002000	0.15269	0.010000	0.20010	0.001000	0.02609	0.0:0.0:0.0:1.0	4.625	0.11860	726	0.54788	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001064	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3848.33	34	chr19	43071912	.	T	C	3848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.98;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	43081019	43081019	G	A	exonic	PSG2	.	stopgain	PSG2:NM_031246:exon2:c.C292T:p.R98X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	5.776e-05	0	0.0002	0	0	5.999e-05	0	6.058e-05	7.68e-05	2	26028	rs367816200	9.579e-05	9.578e-05	0.0001	8.39e-05	0.0003	8.244e-05	7.785e-05	0.0001	0.0001	2.994e-05	0.0002	0	0.0003	1.872e-05	0	9.714e-05	9.938e-05	5.798e-05	0.0001	0.0001	0.0001	0.0001	0.0005	7.129e-05	5.778e-05	0.0003	0.0002	7.342e-05	0	0.0005	0	0	0	0	7.359e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119784	0.33158	T	-0.125125	0.61380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.160573	0.96213	35	0.98326160888604974	0.40290	0.00270	0.01469	N	AEFI	0.026741	0.02061	N	-0.341150606517827	0.27599	1.515508	-0.792418199298335	0.14681	0.7683508	3.19225105347082E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.748	0.10528	-0.612000	0.05712	.	.	-0.443000	0.05165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	726	0.54788	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	8148.33	35	chr19	43081019	.	G	A	8148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.875;DP=2680;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.57;MQRankSum=-1.41;QD=12.61;ReadPosRankSum=-0.651;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	0	1	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D,PSG5:NM_002781:exon3:c.A510C:p.E170D	.	11	1445	66	0	0	66	0.0223275	.	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	189.33	35	chr19	43176069	.	T	G	189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.769;DP=1985;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.85;MQRankSum=-6.306;QD=0.48;ReadPosRankSum=3.82;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:297,0:297:99:.:.:0,120,1800:.	18	0	1	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.02632	3244.33	34	chr19	43195052	.	C	A	3244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.098;DP=999;ExcessHet=0;FS=11.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.33;MQRankSum=-8.894;QD=11.04;ReadPosRankSum=1.1;SOR=0.351	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	43258881	43258881	T	C	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon3:c.A685G:p.N229D,PSG9:NM_002784:exon4:c.A964G:p.N322D	.	25	1382	95	12	8	127	0.0412764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000295340419641	.	0.00159744	0.0023	0.0007	0.0047	0.0082	0	0.0013	0.0067	0.0041	0.0019987	309	154602	rs3180651	0.0010	0.0013	0.0010	0.0010	0.0042	0.0010	0.0009	0.0036	0.0034	0.0008	0.0015	0.0058	0.0042	1.894e-05	0.0017	0.0007	0.0013	0.0021	0.0014	0.0015	0.0014	0.0014	0.0068	0.0012	0.0011	0.0048	0.0041	0.0007	0	0.0020	0.0094	0.0068	0	0	0.0010	0.0020	0.0022	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-2.035	0.00180	N	2.58	0.13434	T	2.12	0.00355	N	0.086	0.08088	-0.9379	0.42947	T	0.005	0.01833	T	9	0.007843822	0.00178	T	2.95E-4	0.00021	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.031672029704231504	0.03116	0.00516258222826	0.00457	0.418148577213	0.27583	T	0.002892	0.03050	T	-0.758037	0.00016	T	-0.857779	0.00867	T	0.0017153659934024	0.00017	T	0.607039	0.22875	T	0.04021668	0.05699	0.042632047	0.05121	0.04021668	0.05699	0.042632047	0.05120	-1.007	0.01007	T	.	.	0.064	0.03407	B	.;.;.;.	.;.;.;.	0.610932	0.09792	6.559	0.1973398977299303	0.00679	0.00062	0.00453	N	AEFI	0.014001	0.00207	N	-1.77595361989871	0.00606	0.02614232	-1.66980436884451	0.01277	0.0575801	1.65951084219822E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.39	0.173	0.14321	0.665000	0.24764	.	.	-0.717000	0.03845	0.960000	0.33603	0.002000	0.18203	0.002000	0.04165	0.0:0.7466:0.0:0.2534	4.082	0.09405	830	0.39242	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5134.52	38	chr19	43258881	.	T	C	5134.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=1015;ExcessHet=0;FS=2.832;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=52.25;MQRankSum=-12.23;QD=19.09;ReadPosRankSum=-3.309;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1244:.	18	0	1	0
chr19	43261928	43261928	G	C	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301708:exon3:c.C641G:p.P214R,PSG9:NM_002784:exon3:c.C641G:p.P214R	.	9	1510	3	0	0	3	0.000992392	.	.	.	2391300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00159154060629	.	.	3.295e-05	0	8.637e-05	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs765310727	3.284e-05	3.284e-05	2.995e-05	3.575e-05	0.0010	2.543e-05	2.249e-05	0.0005	0.0003	0	6.708e-05	0	0	0	0.0010	1.529e-05	3.312e-05	0.0002	2.63e-05	2.627e-05	1.286e-05	4.038e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0.0002	0.001	0.78490	D	0.58	0.51421	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.865	0.83145	M	2.81	0.10975	T	-5.57	0.92128	D	0.287	0.37509	-1.1345	0.01579	T	0.069	0.28147	T	9	0.29025412	0.46606	T	0.001592	0.02548	T	0.111	0.31313	0.528	0.63412	0.191931220699	0.18833	0.16522076772250197	0.16442	0.0245335028444	0.02488	0.390340268612	0.23718	T	0.072227	0.34403	T	-0.253094	0.13721	T	-0.4198	0.31098	T	0.793900609016418	0.45945	D	0.592841	0.21881	T	0.17447454	0.38253	0.2349769	0.48729	0.17447454	0.38252	0.2349769	0.48728	-8.063	0.61499	D	.	.	0.163	0.37102	B	.;.;.;.	.;.;.;.	1.213950	0.16070	12.30	0.99610067287569026	0.74753	0.03983	0.09398	N	AEFI	0.061091	0.11654	N	-0.128468602808888	0.36155	2.086142	-0.383678361149301	0.25483	1.401692	1.28980055353825E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.12	2.12	0.26372	0.335000	0.19546	.	.	0.255000	0.18354	0.007000	0.17678	0.000000	0.08366	0.099000	0.18236	0.0:0.0:1.0:0.0	7.896	0.28871	830	0.39242	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3717.33	34	chr19	43261928	.	G	C	3717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.053;DP=1446;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.12;MQRankSum=-0.21;QD=11.1;ReadPosRankSum=-0.049;SOR=0.712	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	18	0	1	0
chr19	43353716	43353716	T	G	exonic	CD177	.	startloss	CD177:NM_020406:exon1:c.T2G:p.M1?	.	412	1109	0	1	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0329492319213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.984e-05	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.889	0.89242	-1.0347	0.18951	T	0.100	0.37290	T	8	0.9646919	0.95930	D	0.032949	0.54634	D	.	.	0.77	0.89688	0.143124449307	0.13826	0.774479783336459	0.77397	.	.	.	.	.	0.270603	0.64288	T	0.409935	0.90478	D	0.351067	0.90360	D	0.451413989067078	0.30849	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.362101	0.30299	18.39	0.9269701546028567	0.22187	0.62011	0.31653	D	AEFDBI	0.018699	0.00588	N	0.22319028658856	0.52324	3.407341	0.0918361693819364	0.44137	2.701325	0.28332371534582	0.19010	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.564101	0.26826	0	.	.	3.42	3.42	0.38259	1.381000	0.33969	.	.	0.660000	0.55035	0.996000	0.39380	1.000000	0.68203	0.096000	0.18090	0.0:0.0:0.0:1.0	8.547	0.32587	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2144.81	61	chr19	43353716	.	T	G	2144.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.24;SOR=2.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1066	18	1	0	0
chr19	43535604	43535604	G	A	exonic	ZNF575	.	nonsynonymous SNV	ZNF575:NM_174945:exon4:c.G655A:p.G219S	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00487580851942	.	.	1.753e-05	0	0	0	0	1.606e-05	0.0012	0	1.29e-05	2	154602	rs765230902	4.79e-06	4.788e-06	6.809e-06	2.751e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.154	0.32040	T	0.012	0.16265	B	0.009	0.14300	B	0.734143	0.06388	N	1.147490	0.999651	0.21317	N	1.685	0.43254	L	2.89	0.10196	T	-4.63	0.79229	D	0.157	0.21839	-0.9529	0.40468	T	0.029	0.12234	T	10	0.10785943	0.20054	T	0.004876	0.12224	T	0.063	0.18251	0.647	0.78436	0.282179105231	0.27821	0.15459164985613538	0.15380	0.474130913374	0.46605	0.478343844414	0.35829	T	0.071508	0.57017	T	-0.364502	0.03882	T	-0.697712	0.05951	T	0.750333309173584	0.43304	D	0.656934	0.26756	T	0.15587461	0.35205	0.17850648	0.40525	0.15587461	0.35205	0.17850648	0.40524	-4.556	0.31614	T	.	.	0.184	0.53709	B	.;.;.	.;.;.	0.463850	0.08333	5.085	0.97896827080563154	0.36710	0.11759	0.16843	N	ALL	0.046272	0.07664	N	-0.750203566599134	0.14628	0.7302543	-0.801473543288439	0.14461	0.7556308	0.999995860836285	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.535252	0.11790	0	0.825845	0.99933	0	.	.	3.93	-0.819	0.10283	0.079000	0.14636	.	.	-0.103000	0.15852	0.000000	0.06391	0.005000	0.19230	0.948000	0.49324	0.41:0.0:0.59:0.0	7.729	0.27939	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3461.33	36	chr19	43535604	.	G	A	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.978;DP=900;ExcessHet=0;FS=5.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.929;SOR=0.442	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	18	0	1	0
chr19	43546618	43546618	A	G	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon12:c.T1403C:p.I468T	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00370559394717	0.0002	0.000798722	0.0006	0	0.0002	0	0	0.0001	0.0011	0.0037	0.000511	79	154602	rs376540134	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0	0	0	0	0	0.0009	0.0001	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.701e-05	0.0019	0.0015	0	0	0	0	0.0002	0	0.0034	0.0001	0	0.0031	0.563	0.06322	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.880932	0.08756	N	0.949067	1	0.08975	N	.	.	.	4.26	0.02538	T	1.83	0.00537	N	0.063	0.05542	-0.9085	0.47037	T	0.003	0.00832	T	10	0.0039694607	0.00076	T	0.003706	0.08558	T	0.014	0.01968	.	.	0.0666544352282	0.05500	0.06377680039543801	0.06316	0.267841764005	0.29320	0.244128644466	0.03174	T	0.005213	0.04657	T	-0.685326	0.00045	T	-0.758356	0.03172	T	0.0233438501658189	0.01064	T	0.543646	0.18539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00049	B	.;.	.;.	0.320567	0.06954	3.499	0.24647222208234973	0.01100	0.00259	0.01419	N	AEFBI	0.017409	0.00454	N	-1.70576821387821	0.00822	0.03551773	-1.66354260680392	0.01307	0.05899018	0.00616901992519206	0.11146	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.87	-3.41	0.04535	-0.317000	0.08101	.	.	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1654:0.402:0.3027:0.1298	3.045	0.05780	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	38	chr19	43546618	.	A	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.047;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	18	0	1	0
chr19	43612755	43612755	G	A	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.G634A:p.V212I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2303859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0021067762805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365285592	7.146e-06	6.84e-06	5.641e-06	8.693e-06	8.341e-06	3.61e-06	2.64e-06	3.92e-06	2.84e-06	0	0	0	0	0	0	8.341e-06	1.724e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.264	0.16358	T	0.744	0.04912	T	0.126	0.26920	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.25	0.11008	N	0.047	0.01911	-1.0051	0.28427	T	0.045	0.19234	T	8	0.06525484	0.08776	T	0.002107	0.03908	T	0.028	0.06331	0.13	0.03494	0.0138822411134	0.00435	0.01961657694332776	0.01915	0.0135147080433	0.01299	0.239569932222	0.02752	T	0.001689	0.01120	T	-0.364612	0.03876	T	-0.74603	0.03643	T	0.0394778784846389	0.03597	T	0.416558	0.10945	T	0.026249595	0.01658	0.038774867	0.03821	0.026249595	0.01657	0.038774867	0.03820	-3.992	0.23683	T	.	.	0.119	0.24498	B	.;.	.;.	0.145831	0.05387	1.868	0.98002782183328685	0.37491	0.02078	0.06183	N	AEFBI	0.029376	0.02760	N	-1.01084302428208	0.08378	0.3926157	-1.04112912292864	0.08893	0.4395232	6.41448329677303E-5	0.04366	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.491896	0.07777	0	.	.	4.38	0.597	0.16685	1.044000	0.29939	.	.	0.672000	0.70159	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.4334:0.0:0.5666:0.0	5.810	0.17722	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	34	chr19	43612755	.	G	A	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.991;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.551;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr19	43613643	43613643	C	G	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1522G:p.Q508E	.	441	1044	36	1	0	38	0.0178739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0028	0.00698882	0.0147	0	0.0105	0.0018	0	0.0036	0.0158	0.0314	0.0024967	386	154602	rs201956919	0.0044	0.0042	0.0034	0.0055	0.0342	0.0043	0.0043	0.0332	0.0327	0.0007	0.0024	0.0041	8.424e-05	0.0002	0.0121	0.0027	0.0050	0.0342	0.0037	0.0048	0.0034	0.0040	0.0336	0.0034	0.0033	0.0291	0.0274	0.0013	0.0231	0.0034	0.0045	0.0007	0.0002	0.0309	0.0035	0.0036	0.0336	1.0	0.00964	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	.	.	.	0.74	0.02038	N	0.02	0.00308	-0.9896	0.32702	T	0.020	0.08266	T	8	0.0035606325	0.00064	T	.	.	.	0.004	0.00165	.	.	.	.	0.003820140044259554	0.00358	0.0132014889306	0.01271	0.201208040118	0.00493	T	5.44E-4	0.00213	T	-0.714455	0.00030	T	-0.775357	0.02596	T	0.000448618851655258	0.00004	T	0.146485	0.01205	T	0.03308003	0.03456	0.038168784	0.03628	0.03308003	0.03455	0.038168784	0.03628	0.626	0.00188	T	.	.	0.066	0.02257	B	.;.	.;.	-2.353351	0.00045	0.001	0.52147503178587262	0.04693	0.00072	0.00504	N	AEFBI	0.014288	0.00221	N	-1.69771834808168	0.00850	0.03676546	-1.7240476626815	0.01035	0.04643669	0.00149454894049602	0.08586	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.31	-5.2	0.02608	-3.864000	0.00391	.	.	-0.691000	0.04129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.146:0.3384:0.2883:0.2272	2.269	0.03837	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012626	0.000000	0.000000	0.000000	0.000000	0.000000	0.041667	0.045455	0.02632	7319.33	34	chr19	43613643	.	C	G	7319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=2678;ExcessHet=0;FS=3.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.212;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	18	0	1	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005682	0.000000	0.000000	0.004348	0.000000	0.125000	0.000000	0.000000	0.02632	4970.33	34	chr19	43613809	.	C	T	4970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=2576;ExcessHet=0;FS=3.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.229;SOR=0.827	GT:AD:DP:GQ:PL	0/1:199,193:392:99:4984,0,5156	18	0	1	0
chr19	43626808	43626808	A	G	exonic	CADM4	.	nonsynonymous SNV	CADM4:NM_145296:exon4:c.T475C:p.Y159H	.	378	1093	48	3	0	54	0.0241071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0048	0.0091853	0.0069	0.0077	0.0026	0.0003	0.0003	0.0032	0.0104	0.0329	0.0061901	957	154602	rs112876885	0.0047	0.0047	0.0037	0.0057	0.0338	0.0046	0.0045	0.0327	0.0323	0.0095	0.0027	0.0040	0.0001	0.0003	0.0138	0.0027	0.0054	0.0338	0.0054	0.0054	0.0052	0.0056	0.0297	0.0051	0.0050	0.0257	0.0242	0.0083	0.0208	0.0036	0.0043	0.0002	9.422e-05	0.0204	0.0033	0.0062	0.0297	0.056	0.38185	T	0.011	0.64786	D	0.001	0.07471	B	0.002	0.06944	B	0.002595	0.36278	N	0.235044	0.606865	0.32586	D	2.58	0.75369	M	-1.14	0.77843	T	-3.09	0.63438	D	0.255	0.28849	-0.5179	0.67993	T	0.289	0.66036	T	10	0.011398047	0.00249	T	.	.	.	0.313	0.63482	.	.	0.710195464035	0.70766	0.7519354844662318	0.75140	2.27231841279	0.96288	0.561181128025	0.47434	T	0.499057	0.82023	T	-0.351502	0.04633	T	-0.254687	0.49352	T	0.0259419428038908	0.01398	T	0.835616	0.50622	T	0.13797368	0.31927	0.17674974	0.40231	0.13797368	0.31927	0.17674974	0.40230	-7.972	0.60879	D	.	.	0.392	0.59143	A	.	.	3.999448	0.58918	24.0	0.99369497534935214	0.61368	0.87655	0.47267	D	AEFDBI	0.337104	0.43501	N	-0.495223544451615	0.22237	1.185929	-0.426924970423787	0.24210	1.324519	0.0138866362619238	0.12523	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.48	3.35	0.37468	1.865000	0.39117	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.7721:0.1484:0.0795:0.0	7.041	0.24198	895	0.25842	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.010101	0.008152	0.002924	0.000000	0.000000	0.021341	0.037879	0.02632	904.33	34	chr19	43626808	.	A	G	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.755;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.362;SOR=0.787	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	43652350	43652350	G	A	exonic	PLAUR	.	nonsynonymous SNV	PLAUR:NM_001005377:exon5:c.C494T:p.P165L,PLAUR:NM_001005376:exon6:c.C629T:p.P210L,PLAUR:NM_002659:exon6:c.C629T:p.P210L	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0403503381611	0.0005	0.000798722	0.0008	9.61e-05	0.0003	0	0	0.0007	0.0011	0.0028	0.0007115	110	154602	rs141507706	0.0005	0.0005	0.0004	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0	0.0002	0.0080	0	0	0.0010	0.0002	0.0009	0.0027	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0011	0.0009	2.407e-05	0	0.0002	0.0089	0	0	0	0.0004	0	0.0021	0.002	0.78490	D	0.003	0.76473	D	0.965	0.90584	D	0.371	0.76916	B	0.000885	0.41231	D	0.000000	0.999442	0.22644	N	1.62	0.41497	L	2.04	0.26588	T	-7.13	0.94048	D	0.239	0.34444	-1.0601	0.11731	T	0.108	0.39075	T	10	0.004449427	0.00091	T	0.04035	0.59325	D	0.188	0.46444	.	.	0.237489013734	0.23353	0.6468533475443065	0.64620	0.58761891264	0.54333	0.395253181458	0.24407	T	0.389021	0.74955	T	-0.384644	0.02912	T	-0.330529	0.41410	T	0.197335163436298	0.20268	T	0.760024	0.38453	T	0.49253199	0.66653	0.36689505	0.62009	0.49253199	0.66654	0.36689505	0.62009	-8.477	0.70141	D	.	.	0.289	0.52127	B	.;.;.;.	.;.;.;.	3.820349	0.55160	23.6	0.99043341358228709	0.51073	0.09482	0.15228	N	AEFDGBHCI	0.189343	0.31660	N	0.0960874539584446	0.46279	2.870813	-0.0210903944538541	0.38764	2.288524	1.0	0.98316	0.675202	0.55065	0	0.637152	0.57089	0	0.779548	0.98927	0	0.756233	0.99697	0	.	.	4.49	4.49	0.54177	2.831000	0.47845	.	.	0.671000	0.69459	0.563000	0.27449	1.000000	0.68203	0.019000	0.11356	0.0:0.0:1.0:0.0	12.853	0.57255	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	667.33	33	chr19	43652350	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.11;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.387;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr19	43914999	43914999	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.G437A:p.S146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00312665278992	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763889724	2.751e-06	4.788e-06	4.099e-06	1.385e-06	9.047e-05	6.4e-07	4.3e-07	2.397e-05	1.264e-05	9.047e-05	0	0	0	0	0	9.038e-07	0	0	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.572	0.06145	T	0.108	0.37589	T	0.015	0.17086	B	0.004	0.10090	B	0.565193	0.05447	N	1.329360	1	0.08975	N	0.51	0.13489	N	2.35	0.16217	T	-0.35	0.12847	N	0.034	0.01135	-0.9790	0.35231	T	0.032	0.13811	T	10	0.059865475	0.07264	T	0.003127	0.06815	T	0.040	0.10527	.	.	0.215109475489	0.21095	0.1130057698155615	0.11228	0.169148134631	0.19067	0.231817916036	0.02105	T	0.020822	0.16323	T	-0.537667	0.00346	T	-0.773429	0.02657	T	0.0105001855562884	0.00145	T	0.0842916	0.09420	T	0.027025934	0.01838	0.036350884	0.03066	0.027025934	0.01838	0.036350884	0.03065	-5.867	0.45153	T	.	.	0.083	0.14108	B	.;.;.;.	.;.;.;.	0.451688	0.08217	4.955	0.46030335872620071	0.03657	0.03672	0.08936	N	AEFBI	0.029240	0.02725	N	-1.07575094694542	0.07092	0.3284514	-1.14943610364949	0.06778	0.327421	0.00284738656738171	0.09746	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.97	0.91	0.18466	0.939000	0.28576	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8342:0.0:0.1658	6.594	0.21856	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	141.33	36	chr19	43914999	.	C	T	141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.93;DP=1263;ExcessHet=0;FS=67.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.77;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	18	0	1	0
chr19	43915002	43915002	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T434C:p.F145S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0142641972036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.115	0.36630	T	0.039	0.21116	B	0.012	0.16012	B	0.263507	0.15267	N	0.483859	1	0.08975	N	1.58	0.39772	L	0.99	0.41750	T	-0.67	0.19297	N	0.546	0.59138	-0.9603	0.39124	T	0.095	0.35765	T	10	0.13747591	0.26151	T	0.014264	0.34257	T	0.132	0.35948	0.549	0.66436	0.325533332567	0.32158	0.2134923335136329	0.21265	0.374009335995	0.38869	0.324858486652	0.14156	T	0.041617	0.25916	T	-0.185184	0.22966	T	-0.50378	0.21955	T	0.0397184677422047	0.03640	T	0.0791921	0.07698	T	0.05192582	0.09609	0.052913338	0.08811	0.05192582	0.09608	0.052913338	0.08810	-1.615	0.02017	T	.	.	0.093	0.36073	B	.;.;.;.	.;.;.;.	0.794415	0.11650	8.234	0.79185666710255342	0.12628	0.05230	0.11061	N	AEFBI	0.019774	0.00717	N	-0.903664791832601	0.10756	0.5155638	-1.0461848731621	0.08787	0.4337434	0.00269606295461939	0.09639	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	-1.56	0.08080	-0.191000	0.09598	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2416:0.4787:0.1108:0.1689	2.546	0.04450	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	36	chr19	43915002	.	A	G	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.882;DP=1265;ExcessHet=0;FS=70.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	18	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	138.94	36	chr19	43915003	.	A	G	138.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.102;DP=1268;ExcessHet=0.119;FS=205.172;InbreedingCoeff=-0.0444;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.97;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	17	0	2	0
chr19	43919614	43919614	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon8:c.G101A:p.R34Q	.	.	.	.	.	.	.	.	.	.	.	3354196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.002361741247	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	1.94e-05	3	154602	rs775164589	2.191e-05	2.189e-05	1.907e-05	2.477e-05	8.949e-05	1.585e-05	1.357e-05	2.986e-05	1.805e-05	0	8.949e-05	0	0	0	0	2.43e-05	1.657e-05	0	2.629e-05	2.627e-05	5.141e-05	0	4.829e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	2.94e-05	0	0	0.332	0.13045	T	0.318	0.19246	T	0.035	0.20614	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.24	0.02590	T	-1.16	0.29727	N	0.093	0.07262	-0.9521	0.40608	T	0.008	0.02638	T	9	0.04228127	0.02963	T	0.002362	0.04590	T	0.016	0.02506	.	.	0.170165803431	0.16609	0.10601623996060602	0.10531	0.21363709283	0.23881	0.186939567327	0.00176	T	0.026613	0.19659	T	-0.444362	0.01219	T	-0.793206	0.02078	T	0.0470829842823157	0.04980	T	0.0468953	0.00335	T	0.020758785	0.00647	0.042668525	0.05134	0.020758785	0.00647	0.042668525	0.05134	-5.883	0.45290	T	.	.	0.076	0.08512	B	.;.;.	.;.;.	0.225615	0.06073	2.518	0.85005649536255601	0.15628	0.01564	0.05113	N	AEFDBI	0.027975	0.02381	N	-1.32375876304843	0.03405	0.1520418	-1.38260537724474	0.03437	0.1603227	5.41359081259397E-4	0.07273	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.79	-4.24	0.03519	-1.161000	0.03255	.	.	-1.913000	0.00513	0.000000	0.06391	0.000000	0.08366	0.636000	0.32315	0.0:0.3898:0.0:0.6102	8.843	0.34310	850	0.35610	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3035.33	38	chr19	43919614	.	C	T	3035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=1096;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.942;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	43966323	43966323	A	G	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.A821G:p.K274R,ZNF221:NM_001297589:exon5:c.A821G:p.K274R,ZNF221:NM_013359:exon6:c.A821G:p.K274R	.	399	1112	11	0	0	11	0.0049217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.000657680551343	0.0012	0.000599042	0.0011	9.628e-05	8.637e-05	0	0	0.0016	0.0044	0.0015	0.001119	173	154602	rs144749364	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0001	0.0003	0.0007	0	0.0001	0.0043	0.0011	0.0015	0.0018	0.0009	0.0009	0.0009	0.0008	0.0016	0.0007	0.0007	0.0013	0.0013	0.0001	0	0.0003	0.0006	0	9.416e-05	0.0102	0.0016	0.0005	0.0015	0.86	0.02671	T	1.0	0.01155	T	0.927	0.51527	P	0.759	0.56370	P	.	.	.	.	1	0.08975	N	-0.89	0.01422	N	2.29	0.17113	T	-0.87	0.23590	N	0.033	0.01004	-1.1137	0.02770	T	0.018	0.07329	T	9	0.0068707466	0.00156	T	6.58E-4	0.00367	T	0.089	0.25827	.	.	0.0762999501168	0.06990	.	.	0.181792061342	0.20437	0.237205699086	0.02544	T	0.005061	0.04495	T	-0.745349	0.00019	T	-0.850683	0.00951	T	0.0295825408423706	0.01926	T	0.593841	0.21938	T	0.02602446	0.01609	0.062374458	0.12194	0.02602446	0.01608	0.062374458	0.12194	-1.725	0.02295	T	.	.	0.086	0.10835	B	.;.;.;.	.;.;.;.	-0.011326	0.04206	1.025	0.46501525688620848	0.03729	0.00410	0.02037	N	AEFDBHCI	0.020975	0.00885	N	-1.59988896065286	0.01265	0.05504827	-1.7898024236132	0.00792	0.03535537	0.396831821606736	0.20096	0.562547	0.31514	0	0.601575	0.49859	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.33	-4.66	0.03090	-7.557000	0.00043	.	.	-0.085000	0.16207	0.000000	0.06391	.	.	0.293000	0.24333	0.2567:0.3032:0.4401:0.0	6.070	0.19105	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.017241	0.012195	0.003788	0.02632	4519.33	333	chr19	43966323	.	A	G	4519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=5735;ExcessHet=0;FS=6.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.902;SOR=0.766	GT:AD:DP:GQ:PL	0/0:281,0:281:99:0,120,1800	18	0	1	0
chr19	43966527	43966527	C	T	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.C1025T:p.T342I,ZNF221:NM_001297589:exon5:c.C1025T:p.T342I,ZNF221:NM_013359:exon6:c.C1025T:p.T342I	.	403	1101	18	0	0	18	0.00810811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0059	0.00359425	0.0062	0.0012	0.0047	0.0002	0.0027	0.0089	0.0055	0.0040	0.0059249	916	154602	rs56023723	0.0073	0.0073	0.0072	0.0074	0.0111	0.0072	0.0071	0.0089	0.0081	0.0013	0.0056	0.0191	2.519e-05	0.0026	0.0111	0.0080	0.0072	0.0037	0.0057	0.0057	0.0062	0.0051	0.0087	0.0054	0.0053	0.0081	0.0079	0.0013	0.0033	0.0069	0.0170	0.0002	0.0021	0.0136	0.0087	0.0071	0.0035	0.078	0.33923	T	0.011	0.64786	D	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.415	0.02918	N	2.3	0.16953	T	-1.8	0.42384	N	0.075	0.05287	-0.9479	0.41330	T	0.009	0.03271	T	9	0.0060515106	0.00136	T	.	.	.	0.050	0.13987	.	.	0.0401082797425	0.02173	.	.	0.0241402631145	0.02450	0.303737193346	0.10960	T	0.010907	0.09797	T	-0.738337	0.00021	T	-0.826807	0.01320	T	0.00472865501355915	0.00051	T	0.136386	0.01077	T	0.027148634	0.01866	0.08603125	0.19904	0.027148634	0.01866	0.08603125	0.19903	-1.614	0.02014	T	.	.	0.091	0.13080	B	.;.;.;.	.;.;.;.	-0.879671	0.00960	0.038	0.63319774181903199	0.07193	0.01812	0.05644	N	AEFBHCI	0.036465	0.04863	N	-2.01210049894588	0.00199	0.00853707	-2.10076132793371	0.00186	0.008175531	0.292126304102952	0.19098	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.54	-5.08	0.02708	-3.283000	0.00584	.	.	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.1916:0.6894:0.0:0.119	11.167	0.47773	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.000000	0.05263	7739.83	169	chr19	43966527	.	C	T	7739.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.565;DP=3498;ExcessHet=0.119;FS=4.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.716;SOR=0.47	GT:AD:DP:GQ:PL	0/0:168,0:168:99:0,120,1800	17	0	2	0
chr19	43991910	43991910	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon4:c.G211A:p.A71T,ZNF155:NM_001260487:exon4:c.G211A:p.A71T,ZNF155:NM_003445:exon4:c.G211A:p.A71T,ZNF155:NM_198089:exon4:c.G211A:p.A71T,ZNF155:NM_001260488:exon5:c.G244A:p.A82T	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000617934799173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.18122	T	0.537	0.11691	T	0.044	0.21686	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.32	0.05188	T	-1.58	0.38151	N	0.166	0.17966	-0.9628	0.38645	T	0.015	0.06090	T	9	0.075161904	0.11581	T	6.18E-4	0.00303	T	0.030	0.07022	0.293	0.25560	0.112648838833	0.10856	0.01597857260087992	0.01553	0.0365107702582	0.03864	0.225918754935	0.01680	T	0.004198	0.03611	T	-0.37331	0.03430	T	-0.77401	0.02639	T	0.0426595354315809	0.04176	T	0.205679	0.02659	T	0.034619763	0.03919	0.063095294	0.12448	0.034619763	0.03918	0.063095294	0.12447	-6.006	0.46330	T	.	.	0.072	0.12132	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.471152	0.08407	5.163	0.76172498514546483	0.11361	0.06059	0.12030	N	AEFBCI	0.024760	0.01583	N	-0.944018625919644	0.09827	0.4668567	-1.03455082915869	0.09031	0.4471178	0.00624437824222985	0.11166	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.64	1.64	0.22949	-0.118000	0.10665	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.0:0.0:1.0:0.0	6.716	0.22492	630	0.65016	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	10174.8	34	chr19	43991910	.	G	A	10174.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.317;DP=4461;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1;SOR=0.719	GT:AD:DP:GQ:PL	0/1:234,198:432:99:5222,0,6060	17	0	2	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.02632	4863.33	242	chr19	43996525	.	A	T	4863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.619;DP=4276;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.486;SOR=0.645	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	18	0	1	0
chr19	44010478	44010478	C	T	exonic	ZNF230	.	stopgain	ZNF230:NM_006300:exon5:c.C439T:p.Q147X	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313637	0.84014	D	0.212741	0.83805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.493333	0.48838	22.7	0.99577846795853597	0.72802	0.00036	0.00313	N	AEFDGBHCI	0.040416	0.06008	N	-0.137054092946992	0.35786	2.060065	-0.504021327965227	0.22043	1.195377	0.156901482070991	0.17532	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.55	1.47	0.21832	-0.959000	0.03963	.	.	0.310000	0.19122	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7755:0.2245:0.0:0.0	7.603	0.27255	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2327.33	33	chr19	44010478	.	C	T	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=851;ExcessHet=0;FS=3.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.836;SOR=0.957	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	18	0	1	0
chr19	44011364	44011364	A	G	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.A1325G:p.H442R	.	440	1076	5	1	0	7	0.00324224	.	.	.	4106534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.00157214353116	.	.	1.66e-05	0	0	0	0	1.509e-05	0	6.063e-05	1.29e-05	2	154602	rs770936756	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0002	1.111e-05	9.33e-06	1.175e-05	9.55e-06	0	2.236e-05	0	0	0	0.0002	1.799e-05	1.656e-05	1.16e-05	6.568e-06	6.566e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.013	0.53900	D	0.002	0.79402	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999993	0.08975	N	4.07	0.97156	H	1.59	0.28836	T	-6.79	0.92863	D	0.17	0.18103	-0.9134	0.46428	T	0.141	0.46072	T	9	0.1297327	0.24687	T	0.001572	0.02497	T	0.159	0.41286	0.466	0.53729	0.259272394797	0.25527	0.03290536355076539	0.03238	0.154306874137	0.17424	0.348929315805	0.17765	T	0.151736	0.49181	T	-0.2546	0.13539	T	-0.506637	0.21661	T	0.177938048459163	0.19104	T	0.39556	0.09932	T	0.16275512	0.36372	0.19567868	0.43258	0.16275512	0.36372	0.19567868	0.43257	-6.062	0.46795	T	.	.	0.076	0.05890	B	.	.	0.444720	0.08149	4.881	0.66919653141000479	0.08200	0.00113	0.00716	N	AEFBCI	0.055869	0.10283	N	-0.809553060770685	0.13065	0.6410902	-0.957673118239309	0.10746	0.5431695	0.0115593246302031	0.12202	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.55	1.5	0.22029	0.884000	0.27851	.	.	-0.589000	0.04658	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.8735:0.0:0.1265:0.0	6.790	0.22882	599	0.68140	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2891.83	33	chr19	44011364	.	A	G	2891.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=842;ExcessHet=0.119;FS=1.063;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.192;SOR=0.798	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1592,0,1190	17	0	2	0
chr19	44032036	44032036	A	G	exonic	ZNF222	.	nonsynonymous SNV	ZNF222:NM_001129996:exon4:c.A482G:p.N161S,ZNF222:NM_013360:exon4:c.A362G:p.N121S	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0028	0.000798722	0.0033	0.0006	0.0005	0	0.0104	0.0045	0.0044	0.0007	0.0031953	494	154602	rs150090162	0.0036	0.0036	0.0037	0.0036	0.0036	0.0035	0.0035	0.0035	0.0034	0.0005	0.0007	0.0221	0	0.0080	0.0023	0.0036	0.0032	0.0010	0.0031	0.0031	0.0030	0.0033	0.0037	0.0029	0.0028	0.0033	0.0032	0.0008	0.0022	0.0009	0.0161	0	0.0094	0	0.0037	0.0061	0.0008	0.407	0.10245	T	0.046	0.49120	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.66	0.27486	T	-0.16	0.09460	N	0.042	0.03392	-1.0201	0.23682	T	0.028	0.12014	T	9	0.010295689	0.00230	T	.	.	.	0.016	0.02506	.	.	0.306053231325	0.30222	0.006293335207662931	0.00597	0.0416100648428	0.04473	0.205158054829	0.00622	T	4.57E-4	0.00158	T	-0.738628	0.00021	T	-0.832536	0.01218	T	0.00061142356313643	0.00005	T	0.0978902	0.00725	T	0.02359038	0.01112	0.021608654	0.00206	0.02359038	0.01112	0.021608654	0.00206	-4.109	0.25423	T	.	.	0.086	0.11027	B	.;.	.;.	-0.122468	0.03508	0.663	0.53077445928467604	0.04870	0.00042	0.00346	N	AEGBHCI	0.034009	0.04140	N	-1.13225770564066	0.06077	0.2787821	-1.19154913961695	0.06051	0.290066	0.00751177195144924	0.11484	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.79	0.475	0.15984	-0.752000	0.04902	.	.	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6692:0.2046:0.1262:0.0	4.205	0.09944	605	0.67457	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2557.33	35	chr19	44032036	.	A	G	2557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.196;DP=1028;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.96;SOR=0.637	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr19	44067099	44067099	-	A	exonic	ZNF223	.	frameshift insertion	ZNF223:NM_013361:exon5:c.1272dupA:p.P427Tfs*5	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0019	0	0.0006	0	0.0002	0.0011	0.0033	0.0088	0.0003842	10	26028	rs562593501	0.0013	0.0013	0.0011	0.0015	0.0098	0.0012	0.0012	0.0092	0.0090	0.0002	0.0008	0	2.52e-05	5.621e-05	0.0064	0.0008	0.0016	0.0098	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0001	0	0.0003	0	0.0004	9.466e-05	0.0034	0.0011	0.0019	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006042	0.000000	0.001359	0.002924	0.000000	0.008621	0.009146	0.022727	0.02632	2014.29	43	chr19	44067099	.	G	GA	2014.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.248;DP=902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.484;SOR=0.738	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr19	44081096	44081096	T	C	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon3:c.T97C:p.Y33H	.	429	1059	33	1	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	0.0026	0.00299521	0.0040	9.612e-05	0.0007	0.0001	0	0.0035	0.0055	0.0144	0.0034928	540	154602	rs200252807	0.0022	0.0022	0.0019	0.0026	0.0142	0.0022	0.0022	0.0136	0.0133	2.989e-05	0.0006	0.0327	7.56e-05	5.637e-05	0.0076	0.0008	0.0042	0.0142	0.0021	0.0021	0.0018	0.0023	0.0149	0.0019	0.0018	0.0122	0.0111	0.0002	0	0.0010	0.0357	0	0	0.0034	0.0013	0.0028	0.0149	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999744	0.20516	N	2.68	0.78455	M	3.15	0.07820	T	-4.41	0.77391	D	0.833	0.82862	-1.0953	0.04709	T	0.076	0.30522	T	9	0.010199189	0.00228	T	.	.	.	0.204	0.49076	.	.	0.347217280506	0.34334	0.3909353900795616	0.39008	0.263362769857	0.28890	0.538397312164	0.44219	T	0.025173	0.18878	T	-0.366003	0.03802	T	-0.286838	0.46101	T	0.101037793179473	0.12471	T	0.760924	0.38541	T	0.47300163	0.65475	0.4574436	0.68470	0.47300163	0.65475	0.4574436	0.68471	-8.649	0.65411	D	.	.	0.684	0.72315	P	.	.	3.128092	0.42255	21.5	0.996016645120815	0.74219	0.50088	0.28582	D	AEFDGBI	0.075101	0.15072	N	0.22012002918773	0.52175	3.393368	-0.0357576965561809	0.38114	2.240851	7.25890864065083E-4	0.07704	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	1.64	1.64	0.22949	1.750000	0.37956	.	.	0.497000	0.22564	1.000000	0.71638	0.003000	0.18671	0.132000	0.19645	0.0:0.0:0.0:1.0	5.343	0.15295	622	0.65860	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.002717	0.011696	0.000000	0.000000	0.015244	0.015152	0.02632	4224.33	43	chr19	44081096	.	T	C	4224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=1023;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.202;SOR=0.87	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	18	0	1	0
chr19	44086227	44086227	G	A	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon5:c.G749A:p.C250Y	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00153053313133	0.0005	0.000199681	0.0009	0	0.0008	0.0002	0	0.0011	0.0011	0.0010	0.0007568	117	154602	rs200659383	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0	0.0005	0.0171	0	0	0.0042	0.0002	0.0015	0.0008	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0002	0.0002	0	0	0.0003	0.0170	0	0	0.0068	0.0003	0.0024	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.037	0.20876	B	0.05	0.25278	B	.	.	.	.	1	0.08975	N	0.04	0.08086	N	2.26	0.17596	T	-3.56	0.68880	D	0.092	0.07125	-0.9790	0.35231	T	0.018	0.07423	T	9	0.0058813393	0.00132	T	0.001531	0.02394	T	0.019	0.03383	.	.	0.119812018005	0.11559	0.027686651017446717	0.02718	0.187302612443	0.21046	0.280146718025	0.07513	T	0.069564	0.33741	T	-0.497191	0.00593	T	-0.543305	0.17972	T	0.0215897335365449	0.00864	T	0.494051	0.15283	T	0.08099563	0.18587	0.22299524	0.47163	0.08099563	0.18587	0.22299524	0.47162	-3.313	0.13906	T	.	.	0.188	0.40586	B	.	.	-0.717053	0.01282	0.068	0.8747511911082112	0.17254	0.01821	0.05662	N	AEFGBI	0.023491	0.01316	N	-1.12880023001439	0.06135	0.2816392	-1.15688933257184	0.06645	0.3205536	2.84835917260043E-4	0.06355	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	2.58	-0.602	0.11051	-0.455000	0.06837	.	.	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.5965:0.0:0.4035:0.0	5.334	0.15253	661	0.61838	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2281.33	225	chr19	44086227	.	G	A	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=3203;ExcessHet=0;FS=3.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.286;SOR=0.962	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	18	0	1	0
chr19	44157110	44157110	T	C	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.T1094C:p.I365T,ZNF234:NM_006630:exon6:c.T1094C:p.I365T	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00556321712391	.	.	0.0003	0	0.0024	0	0	0.0001	0.0033	6.057e-05	0.0002652	41	154602	rs764844698	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	2.987e-05	0.0014	0	0	1.872e-05	0.0014	7.554e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	7.091e-05	5.747e-05	0.0002	0.0002	4.824e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0	0.078	0.33923	T	0.072	0.43344	T	0.896	0.49324	P	0.433	0.45477	B	.	.	.	.	0.999944	0.19238	N	0.21	0.09513	N	5.47	0.00949	T	-2.79	0.59059	D	0.162	0.17002	-0.8273	0.53473	T	0.002	0.00707	T	9	0.02313748	0.00597	T	0.005563	0.14349	T	0.067	0.19503	.	.	0.177238962908	0.17366	0.010903395559772308	0.01051	0.317716590837	0.34012	0.495984464884	0.38269	T	0.038749	0.24948	T	-0.613265	0.00121	T	-0.699241	0.05867	T	0.0646675878635193	0.07882	T	0.784922	0.42251	T	0.03506734	0.04056	0.09592173	0.22769	0.03506734	0.04056	0.09592173	0.22768	-5.007	0.36916	T	.	.	0.663	0.71435	P	.;.	.;.	2.158978	0.27505	17.48	0.9966405009232302	0.78138	0.19263	0.20592	N	AEFGBHI	0.058292	0.10927	N	-0.479056165621961	0.22769	1.21806	-0.526019867824481	0.21448	1.160298	0.0111044797586929	0.12131	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.12	1.92	0.24912	-0.391000	0.07383	.	.	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.403000	0.26849	0.0:0.186:0.1676:0.6463	4.573	0.11614	846	0.36215	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1712.33	33	chr19	44157110	.	T	C	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.266;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1301	18	0	1	0
chr19	44175928	44175932	ATCTT	-	exonic	ZNF226	.	stopgain	ZNF226:NM_001032372:exon6:c.666_670del:p.S223*,ZNF226:NM_001032373:exon6:c.666_670del:p.S223*,ZNF226:NM_001319088:exon6:c.666_670del:p.S223*,ZNF226:NM_001319090:exon6:c.666_670del:p.S223*,ZNF226:NM_001319089:exon7:c.666_670del:p.S223*,ZNF226:NM_016444:exon7:c.666_670del:p.S223*	.	427	1090	4	1	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0005	0	0	0	0	6.035e-05	0.0011	0.0037	0.0004786	74	154602	rs533087898	0.0003	0.0003	0.0001	0.0004	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	1.876e-05	0	6.927e-05	0.0002	0.0032	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0029	0.0025	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2452.29	33	chr19	44175927	.	AATCTT	A	2452.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=762;ExcessHet=0;FS=6.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.934;SOR=1.218	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr19	44176104	44176104	C	G	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C842G:p.T281R,ZNF226:NM_001032373:exon6:c.C842G:p.T281R,ZNF226:NM_001319088:exon6:c.C842G:p.T281R,ZNF226:NM_001319090:exon6:c.C842G:p.T281R,ZNF226:NM_001319089:exon7:c.C842G:p.T281R,ZNF226:NM_016444:exon7:c.C842G:p.T281R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0067102173155	.	.	8.294e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs749916009	1.368e-05	1.368e-05	1.089e-05	1.65e-05	2.236e-05	8.94e-06	7.26e-06	9.31e-06	7.61e-06	0	2.236e-05	0	0	0	0	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.49	0.11551	T	0.954	0.54400	P	0.779	0.57244	P	0.067221	0.02209	N	2.277220	1	0.08975	N	-0.28	0.03718	N	0.19	0.60236	T	-1.75	0.41428	N	0.093	0.10056	-0.8033	0.54950	T	0.207	0.56622	T	10	0.23441923	0.40482	T	0.00671	0.17727	T	0.111	0.31313	0.275	0.22687	0.766466052208	0.76432	0.02573657614020103	0.02524	0.0190548153064	0.01861	0.212014704943	0.00900	T	0.007146	0.06566	T	-0.321201	0.06800	T	-0.602306	0.12618	T	0.123796261847019	0.14797	T	0.263074	0.04257	T	0.0409902	0.05955	0.0485277	0.07226	0.0409902	0.05954	0.0485277	0.07225	-3.697	0.19274	T	.	.	0.075	0.05890	B	.;.;.	.;.;.	0.751001	0.11205	7.840	0.80971451279899676	0.13457	0.15978	0.19173	N	AEFDBCI	0.079602	0.16080	N	-0.484215938806411	0.22598	1.207746	-0.710190905251415	0.16707	0.885076	0.145854817451981	0.17356	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.28	-4.58	0.03168	-0.831000	0.04512	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.1434:0.5106:0.0:0.346	6.084	0.19179	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2639.33	33	chr19	44176104	.	C	G	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.686;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.306;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr19	44177023	44177023	C	A	exonic	ZNF226	.	stopgain	ZNF226:NM_001032372:exon6:c.C1761A:p.Y587X,ZNF226:NM_001032373:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319088:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319090:exon6:c.C1761A:p.Y587X,ZNF226:NM_001319089:exon7:c.C1761A:p.Y587X,ZNF226:NM_016444:exon7:c.C1761A:p.Y587X	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.276e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs773252890	1.095e-05	1.094e-05	1.361e-05	8.251e-06	7.557e-05	6.48e-06	5.24e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	8.993e-06	3.312e-05	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.145468	0.18145	N	0.302118	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.081	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304033	0.83287	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	6.431007	0.95199	34	0.99659070447418741	0.77820	0.53462	0.29377	D	AEFBHCI	0.167759	0.29446	N	0.320127491518489	0.57182	3.884656	0.0769378339956974	0.43391	2.64184	0.00530714648714878	0.10895	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.1	1.91	0.24841	-0.709000	0.05132	.	.	0.581000	0.30040	0.000000	0.06391	.	.	0.971000	0.54645	0.0:0.6864:0.0:0.3136	5.473	0.15975	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1135.33	33	chr19	44177023	.	C	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=746;ExcessHet=0;FS=10.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.009;SOR=1.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr19	44177069	44177069	A	C	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.A1807C:p.K603Q,ZNF226:NM_001032373:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319088:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319090:exon6:c.A1807C:p.K603Q,ZNF226:NM_001319089:exon7:c.A1807C:p.K603Q,ZNF226:NM_016444:exon7:c.A1807C:p.K603Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	2303868	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00142350609379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442943935	7.525e-06	7.524e-06	8.167e-06	6.875e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	6.632e-06	6.592e-06	1.296e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.854	0.02712	T	0.63	0.07196	T	0.711	0.42090	P	0.355	0.42984	B	0.003807	0.34463	N	0.000000	1	0.08975	N	1.095	0.27400	L	3.18	0.07478	T	-0.06	0.07882	N	0.123	0.12627	-0.9793	0.35162	T	0.010	0.03856	T	10	0.08895987	0.15367	T	0.001424	0.02113	T	0.044	0.11924	0.354	0.35408	0.529460334844	0.52594	0.02611759312173184	0.02562	0.154127611139	0.17397	0.426797986031	0.28771	T	0.005221	0.04667	T	-0.326996	0.06342	T	-0.707484	0.05426	T	0.337149411439896	0.26510	T	0.805919	0.45429	T	0.038310677	0.05080	0.024785997	0.00505	0.038310677	0.05079	0.024785997	0.00504	-3.43	0.15463	T	.	.	0.214	0.45261	B	.;.;.	.;.;.	0.596223	0.09647	6.419	0.52321810766827459	0.04726	0.17398	0.19820	N	AEBHCI	0.131769	0.25083	N	-0.424884064978396	0.24600	1.329412	-0.388040239246616	0.25352	1.393707	0.0131223105918784	0.12420	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	3.89	2.83	0.32150	-0.045000	0.11957	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.6501:0.2334:0.1165:0.0	3.943	0.08831	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	33	chr19	44177069	.	A	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=757;ExcessHet=0;FS=6.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.154;SOR=1.272	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr19	44274298	44274298	-	CAC	exonic	ZNF233	.	nonframeshift insertion	ZNF233:NM_001207005:exon5:c.1638_1639insCAC:p.S546_Q547insH,ZNF233:NM_181756:exon5:c.1638_1639insCAC:p.S546_Q547insH	.	417	1086	18	1	0	20	0.00912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	9.612e-05	0.0003	0	0	0.0003	0.0011	0.0017	0.0003558	55	154602	rs747608327	0.0004	0.0004	0.0003	0.0004	0.0045	0.0004	0.0003	0.0032	0.0027	2.987e-05	0.0004	3.826e-05	0	0	0.0045	0.0003	0.0005	0.0021	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.418e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	2666.29	44	chr19	44274298	.	T	TCAC	2666.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.966;DP=1419;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=-0.324;SOR=0.622	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr19	44288548	44288548	T	C	exonic	ZNF235	.	nonsynonymous SNV	ZNF235:NM_004234:exon5:c.A887G:p.H296R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00112293635069	.	.	4.122e-05	0	0	0	0	7.496e-05	0	0	3.23e-05	5	154602	rs2125579	2.463e-05	2.463e-05	2.45e-05	2.475e-05	0.0007	1.803e-05	1.6e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.698e-05	3.312e-05	0	6.579e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.389	0.10874	T	0.375	0.16231	T	0.001	0.07471	B	0.002	0.08700	B	0.324715	0.04095	N	1.533750	1	0.08975	P	0.85	0.21244	L	2.48	0.14657	T	-1.55	0.37566	N	0.06	0.03175	-0.9876	0.33200	T	0.024	0.10013	T	9	0.08312899	0.13795	T	0.001123	0.01360	T	0.075	0.21907	0.465	0.53566	0.115124310173	0.11017	0.02331062939604126	0.02283	0.086922727421	0.09802	0.188506558537	0.00200	T	0.007868	0.07247	T	-0.494129	0.00617	T	-0.767262	0.02859	T	0.126550987362862	0.15060	T	0.0378962	0.00263	T	0.027977536	0.02066	0.037474345	0.03407	0.027977536	0.02066	0.037474345	0.03407	-4.375	0.29421	T	.	.	0.056	0.00505	B	.;.	.;.	-1.427929	0.00341	0.006	0.36171443725888808	0.02312	0.01592	0.05174	N	AEFGBI	0.031006	0.03231	N	-1.40515158231953	0.02593	0.1147209	-1.56212404850676	0.01893	0.08635255	0.990358499467191	0.32125	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	4.32	-8.64	0.00758	-1.557000	0.02270	.	.	-0.123000	0.13640	0.000000	0.06391	.	.	0.001000	0.02609	0.0:0.3701:0.4061:0.2238	8.937	0.34869	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	74203.1	219	chr19	44288548	.	T	C	74203.1	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=3197;ExcessHet=0.5777;FS=0.65;InbreedingCoeff=0.1044;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.35;ReadPosRankSum=1.15;SOR=0.608	GT:AD:DP:GQ:PL	0/0:0,0:174:99:5692,5692,5692	18	0	1	0
chr19	44386528	44386528	G	A	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.C1252T:p.R418C,ZNF285:NM_001291489:exon4:c.C1717T:p.R573C,ZNF285:NM_152354:exon4:c.C1717T:p.R573C,ZNF285:NM_001291488:exon5:c.C1738T:p.R580C,ZNF285:NM_001291490:exon5:c.C1252T:p.R418C	.	424	1094	4	0	0	4	0.00182482	.	.	.	3927205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	0.00553293248762	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs762533427	4.447e-05	4.446e-05	4.492e-05	4.401e-05	9.275e-05	3.575e-05	3.257e-05	4.579e-05	3.272e-05	0	0	0.0004	0	0	0	4.047e-05	1.656e-05	9.275e-05	3.287e-05	3.284e-05	5.141e-05	1.346e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0	0	.	.	.	0.24	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.27	0.06681	T	.	.	.	0.061	0.05162	-0.9353	0.43349	T	0.005	0.01506	T	9	0.0349077	0.01716	T	0.005533	0.14258	T	0.075	0.21907	0.656	0.79379	0.0762999501168	0.06990	0.04745918492607144	0.04688	.	.	.	.	.	.	.	.	-0.326008	0.06418	T	-0.706064	0.05500	T	0.0501580235547612	0.05529	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.28948	B	.;.;.	.;.;.	0.231312	0.06126	2.571	0.87741396087588208	0.17447	0.00710	0.03005	N	AEFDGBI	0.044909	0.07283	N	-1.64974870757639	0.01036	0.04494271	-1.64116925739784	0.01422	0.064306	0.00106402162721192	0.08183	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	2.85	-3.72	0.04125	0.044000	0.13876	.	.	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.6193:0.1671:0.2136:0.0	5.544	0.16340	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1538.33	34	chr19	44386528	.	G	A	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=795;ExcessHet=0;FS=4.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.38;MQRankSum=-6.126;QD=12.82;ReadPosRankSum=-0.477;SOR=1.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1206:.	18	0	1	0
chr19	44387371	44387371	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G409A:p.E137K,ZNF285:NM_001291489:exon4:c.G874A:p.E292K,ZNF285:NM_152354:exon4:c.G874A:p.E292K,ZNF285:NM_001291488:exon5:c.G895A:p.E299K,ZNF285:NM_001291490:exon5:c.G409A:p.E137K	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00151343146227	.	0.000199681	8.363e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs531028922	6.156e-06	6.156e-06	4.084e-06	8.25e-06	5.038e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	0	4.967e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0	0.0002	.	.	.	0.152	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.123	0.17140	-0.9186	0.45743	T	0.016	0.06329	T	9	0.07002258	0.10129	T	0.001513	0.02343	T	0.031	0.07369	0.445	0.50302	0.0716867268079	0.06686	0.03171292967658753	0.03120	.	.	.	.	.	.	.	.	-0.32392	0.06581	T	-0.703065	0.05660	T	0.0328854026497822	0.02452	T	0.19978	0.02250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12228	B	.;.;.	.;.;.	0.500049	0.08693	5.464	0.92571330580662348	0.22026	0.03944	0.09342	N	AEFDGBI	0.056138	0.10355	N	-1.32528951473618	0.03388	0.1512664	-1.48550365619622	0.02462	0.1133123	0.00145570027841714	0.08551	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-5.86	0.02114	-0.490000	0.06562	.	.	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1203:0.4325:0.1187:0.3285	2.334	0.03984	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3499.83	34	chr19	44387371	.	C	T	3499.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.81;DP=1231;ExcessHet=0.119;FS=2.74;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.21;MQRankSum=-1.496;QD=13.72;ReadPosRankSum=1.68;SOR=0.544	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1935,0,1387	17	0	2	0
chr19	44387826	44387826	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.G419A:p.S140N,ZNF285:NM_152354:exon4:c.G419A:p.S140N,ZNF285:NM_001291488:exon5:c.G440A:p.S147N	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00162200480868	0.0017	0.000399361	0.0017	0.0003	0.0004	0	0.0008	0.0019	0.0033	0.0037	0.001533	237	154602	rs145772874	0.0021	0.0021	0.0020	0.0022	0.0042	0.0020	0.0020	0.0038	0.0037	0.0004	0.0009	0.0006	0	0.0005	0.0014	0.0022	0.0019	0.0042	0.0013	0.0013	0.0016	0.0010	0.0031	0.0012	0.0011	0.0019	0.0018	0.0006	0	0.0005	0.0009	0	9.418e-05	0.0034	0.0022	0.0005	0.0031	.	.	.	0.384	0.15794	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.027	0.00825	-0.9260	0.44716	T	0.008	0.02884	T	9	0.0063569546	0.00144	T	0.001622	0.02625	T	0.007	0.00512	.	.	0.0920862733494	0.08535	0.026591702296234615	0.02609	.	.	.	.	.	.	.	.	-0.43661	0.01354	T	-0.864936	0.00792	T	0.00521157561700847	0.00056	T	0.390761	0.09705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.42621	B	.;.;.	.;.;.	0.104551	0.05055	1.597	0.63873918398900009	0.07340	0.01548	0.05077	N	AEFGBI	0.031117	0.03262	N	-1.38381201936725	0.02789	0.1236745	-1.43214058081393	0.02935	0.1360007	3.41997361063324E-5	0.03775	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	1.78	-0.495	0.11430	-2.760000	0.00856	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.4768:0.3628:0.0:0.1603	2.891	0.05328	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000558	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003906	0.02632	2795.33	34	chr19	44387826	.	C	T	2795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=1004;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.84;MQRankSum=-0.072;QD=14.95;ReadPosRankSum=-0.92;SOR=0.743	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr19	44442846	44442846	A	G	exonic	ZNF229	.	startloss	ZNF229:NM_001278510:exon3:c.T2C:p.M1?,ZNF229:NM_014518:exon3:c.T2C:p.M1?	.	420	1082	19	1	0	21	0.00961098	.	.	.	2808879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	0.00910938250367	8.3e-05	0.000599042	0.0014	0.0002	0.0003	0	0	0.0004	0.0033	0.0081	0.0011255	174	154602	rs199644935	0.0007	0.0007	0.0004	0.0010	0.0092	0.0007	0.0007	0.0087	0.0085	0	0.0002	3.826e-05	0	1.876e-05	0.0050	0.0001	0.0009	0.0092	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0056	0.0001	0	0.0002	0	0	0	0.0041	0.0001	0.0005	0.0085	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.537	0.56489	-1.0276	0.21233	T	0.018	0.07376	T	8	0.007427484	0.00169	T	0.009109	0.23965	T	.	.	.	.	0.270001397563	0.26616	0.10640469330074703	0.10570	.	.	.	.	.	.	.	.	-0.21419	0.18794	T	-0.0734809	0.65376	T	0.011461238529386	0.00172	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.795269	0.22820	15.77	0.7881897504870653	0.12466	0.00222	0.01252	N	AEFBI	0.008562	0.00041	N	-0.837210483319705	0.12366	0.6023815	-0.936819549496422	0.11230	0.5708343	1.39687111254852E-4	0.05486	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	2.67	1.61	0.22752	1.917000	0.39626	.	.	0.587000	0.30956	0.805000	0.29786	0.372000	0.24573	0.179000	0.21265	0.8457:0.0:0.1543:0.0	4.735	0.12360	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	3059.83	71	chr19	44442846	.	A	G	3059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.41;DP=914;ExcessHet=0.119;FS=4.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.66;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	17	0	2	0
chr19	44635421	44635421	G	A	exonic	IGSF23	.	nonsynonymous SNV	IGSF23:NM_001205280:exon4:c.G566A:p.G189E	.	427	1094	1	0	0	1	0.00045683	.	.	.	2443601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00619374248904	.	.	0.0004	0	0	0	0	0	0	0.0008	5.17e-05	8	154602	rs766332836	7.589e-05	7.251e-05	5.086e-05	0.0001	0.0021	6.398e-05	5.965e-05	0.0012	0.0010	0	2.804e-05	0	0	0	0.0021	2.875e-05	8.624e-05	0.0007	9.212e-05	9.193e-05	5.149e-05	0.0001	0.0015	5.535e-05	4.37e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.082	0.33254	T	0.411	0.14500	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.83	0.47815	T	0.66	0.02297	N	0.141	0.14054	-1.0431	0.16383	T	0.056	0.23602	T	9	0.017274976	0.00368	T	0.006194	0.16229	T	0.025	0.05312	0.322	0.30226	0.110078149338	0.10416	0.039511617974538074	0.03897	.	.	0.261807858944	0.05108	T	0.007754	0.07136	T	-0.459308	0.00993	T	-0.53563	0.18728	T	0.0164551339437598	0.00411	T	0.406259	0.10435	T	0.07462498	0.16760	0.08137239	0.18488	0.07462498	0.16759	0.08137239	0.18487	-3.788	0.20625	T	.	.	0.103	0.18331	B	.	.	0.626214	0.09948	6.703	0.98287202203487056	0.39916	0.00243	0.01347	N	AEFBI	0.037412	0.05142	N	-1.19593678664079	0.05061	0.2298614	-1.28902698233912	0.04578	0.2162607	0.999878610871229	0.44625	0.653281	0.48532	0	0.573888	0.26702	0	0.547309	0.15389	0	0.669	0.65921	0	.	.	3.01	-2.97	0.05195	-0.789000	0.04714	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.5984:0.0:0.4016:0.0	7.480	0.26567	764	0.49969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001250	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.000000	0.02632	537.33	40	chr19	44635421	.	G	A	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.442;DP=754;ExcessHet=0;FS=1.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.019;SOR=0.806	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	44704143	44704143	G	A	exonic	CEACAM16	.	nonsynonymous SNV	CEACAM16:NM_001039213:exon4:c.G508A:p.A170T	Deafness, autosomal dominant 4B, Autosomal dominant	0	1500	19	3	0	25	0.00826446	.	.	.	231033	CEACAM16-related_disorder|not_provided|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.00843002507967	0.0018	0.00139776	0.0035	0.0006	0.0024	0	0.0006	0.0041	0.0027	0.0048	0.0016041	248	154602	rs200297676	0.0019	0.0019	0.0019	0.0020	0.0046	0.0019	0.0018	0.0035	0.0034	0.0003	0.0006	0.0002	0	0.0003	0.0046	0.0021	0.0016	0.0038	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0010	0.0016	0.0015	0.0004	0	0.0007	0	0	0.0002	0.0034	0.0019	0.0009	0.0023	0.026	0.46910	D	0.293	0.20811	T	.	.	.	.	.	.	0.007309	0.31472	U	0.000000	1	0.08975	N	0.18	0.09070	N	2.64	0.12780	T	-0.64	0.18670	N	0.111	0.12341	-1.0257	0.21853	T	0.016	0.06521	T	10	0.007554978	0.00172	T	0.00843	0.22307	T	0.031	0.07369	.	.	0.0401082797425	0.02173	0.18168687625648638	0.18087	0.138606536157	0.15631	0.374289065599	0.21444	T	0.009598	0.08729	T	-0.71898	0.00028	T	-0.805822	0.01761	T	0.00359737329949194	0.00038	T	0.611339	0.23205	T	0.10498466	0.24821	0.11019726	0.26567	0.11373119	0.26857	0.0892798	0.20867	-3.973	0.23398	T	0.12340982727522032	0.11955	0.065	0.01909	B	.;.	.;.	0.793962	0.11644	8.230	0.98898820037583401	0.48145	0.03045	0.07938	N	AEFDBI	0.075955	0.15269	N	-1.03529815266814	0.07879	0.3675158	-1.09611235001062	0.07776	0.3796012	0.100721546774015	0.16360	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.93	-3.29	0.04706	-0.281000	0.08489	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.3337:0.2921:0.3742:0.0	5.015	0.13672	628	0.65206	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	36	chr19	44704143	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.254;DP=705;ExcessHet=0;FS=3.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.32;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	18	0	1	0
chr19	44781238	44781238	C	T	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon3:c.C532T:p.L178F,CBLC:NM_012116:exon3:c.C532T:p.L178F	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	0.0045	0.00778754	0.0022	0.0147	0.0010	0	0	0.0002	0.0011	0.0055	0.0021798	337	154602	rs114569424	0.0010	0.0010	0.0008	0.0012	0.0164	0.0009	0.0009	0.0152	0.0148	0.0164	0.0010	0	0	1.883e-05	0.0028	0.0002	0.0014	0.0055	0.0045	0.0045	0.0047	0.0042	0.0145	0.0042	0.0041	0.0135	0.0131	0.0145	0	0.0020	0	0	0	0	0.0002	0.0052	0.0046	0.45	0.08996	T	0.263	0.22828	T	0.99	0.63424	D	0.729	0.55225	P	0.959896	0.08231	N	0.976806	1	0.08975	N	2.3	0.65703	M	-2.23	0.87116	D	-1.39	0.34397	N	0.226	0.29081	-0.5487	0.66836	T	0.369	0.72872	T	10	0.010510981	0.00233	T	.	.	.	0.209	0.49871	.	.	0.890559354681	0.88947	0.25200479408268567	0.25114	0.930430797109	0.71797	0.433112502098	0.29634	T	0.434227	0.78138	T	-0.417453	0.01776	T	-0.359445	0.38116	T	0.0143379591340892	0.00286	T	0.728627	0.34357	T	0.1595048	0.35826	0.09005935	0.21097	0.1595048	0.35826	0.09005935	0.21096	-10.251	0.76085	D	.	.	0.171	0.37558	B	.;.;.	.;.;.	1.958306	0.24878	16.56	0.99690173857100084	0.79909	0.07527	0.13541	N	AEFDBI	0.125851	0.24254	N	-0.308422200486603	0.28826	1.593326	-0.480235889859042	0.22698	1.234181	0.998721995234562	0.37539	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	3.95	1.72	0.23498	1.245000	0.32393	.	.	0.529000	0.24592	0.002000	0.15269	0.002000	0.18203	0.639000	0.32395	0.1838:0.4585:0.3578:0.0	7.232	0.25221	628	0.65206	Adaptor protein Cbl, EF hand-like|Adaptor protein Cbl, PTB domain;.;Adaptor protein Cbl, EF hand-like|Adaptor protein Cbl, PTB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.006812	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1724.33	36	chr19	44781238	.	C	T	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.312;DP=763;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.038;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	18	0	1	0
chr19	44792407	44792407	A	G	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon6:c.A892G:p.M298V,CBLC:NM_012116:exon7:c.A1030G:p.M344V	.	420	1061	37	4	0	45	0.020766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	.	0.0066	0.0061901	0.0080	0.0013	0.0027	0	0.0032	0.0100	0.0077	0.0144	0.0078977	1221	154602	rs149074838	0.0083	0.0083	0.0080	0.0085	0.0208	0.0081	0.0081	0.0178	0.0167	0.0013	0.0034	0.0042	0	0.0031	0.0208	0.0089	0.0080	0.0130	0.0058	0.0058	0.0060	0.0056	0.0141	0.0055	0.0053	0.0114	0.0104	0.0016	0	0.0033	0.0052	0.0002	0.0029	0.0306	0.0090	0.0095	0.0141	0.012	0.54683	D	0.018	0.59732	D	0.889	0.57829	P	0.775	0.72001	P	0.001904	0.37691	N	0.114561	0.99944	0.51968	D	2.6	0.76081	M	-3.48	0.94584	D	-3.58	0.69118	D	0.462	0.49874	0.613	0.92069	D	0.794	0.93032	D	10	0.0088893175	0.00201	T	.	.	.	0.799	0.93425	.	.	0.929045453442	0.92831	0.3738723347436617	0.37301	0.326134606744	0.34764	0.467776715755	0.34374	T	0.726295	0.92304	D	-0.0719816	0.41010	T	0.134858	0.79210	D	0.0292411764619969	0.01874	T	0.680232	0.28883	T	0.28027663	0.51076	0.36654878	0.61982	0.28027663	0.51076	0.36654878	0.61981	-9.169	0.71653	D	.	.	0.204	0.42920	B	.;.;.	.;.;.	3.497206	0.48908	22.7	0.98907146019890746	0.48308	0.88917	0.49082	D	AEFDBHCIJ	0.855031	0.77211	D	0.605108900228125	0.73495	5.975778	0.539785417597971	0.70691	5.542364	0.999971891779467	0.50053	0.706548	0.73137	0	0.618376	0.53248	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	5.924000	0.69776	.	.	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.871	0.46088	616	0.66398	.;.;.	.	.	CEACAM19	Esophagus_Mucosa	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.000000	0.014946	0.026316	0.000000	0.017241	0.030488	0.026515	0.02632	774.33	34	chr19	44792407	.	A	G	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=733;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-0.137;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1325	18	0	1	0
chr19	44793510	44793510	G	A	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon7:c.G1036A:p.E346K,CBLC:NM_012116:exon8:c.G1174A:p.E392K	.	412	1100	10	0	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0048	0.00319489	0.0044	0.0007	0.0044	0	0.0018	0.0064	0.0101	0.0015	0.0046312	716	154602	rs35457630	0.0053	0.0053	0.0054	0.0052	0.0068	0.0052	0.0052	0.0059	0.0058	0.0009	0.0062	0.0083	2.524e-05	0.0023	0.0068	0.0060	0.0054	0.0013	0.0046	0.0046	0.0045	0.0047	0.0082	0.0043	0.0042	0.0070	0.0066	0.0009	0	0.0082	0.0078	0.0002	0.0024	0.0170	0.0067	0.0090	0.0017	0.049	0.39820	D	0.047	0.49390	D	0.001	0.09854	B	0.001	0.06944	B	0.878397	0.07219	N	1.068980	0.896746	0.28227	N	0.195	0.09149	N	-3.7	0.95352	D	-3.47	0.67824	D	0.21	0.23884	-0.3526	0.73478	T	0.574	0.84621	D	10	0.009655088	0.00217	T	.	.	.	0.276	0.59253	.	.	0.63021950896	0.62719	0.31321281456451044	0.31234	0.333362944762	0.35373	0.270042479038	0.06146	T	0.755837	0.93346	D	-0.343433	0.05154	T	-0.260121	0.48813	T	0.0204095662610503	0.00741	T	0.89581	0.63671	D	0.19703072	0.41553	0.14194514	0.33786	0.19703072	0.41553	0.14194514	0.33785	-7.962	0.62955	D	.	.	0.115	0.22969	B	.;.;.	.;.;.	0.765735	0.11358	7.973	0.90011297009730784	0.19301	0.51580	0.28929	D	AEFDBI	0.114996	0.22628	N	-1.72022677813595	0.00772	0.03336787	-1.73721078692317	0.00982	0.04401287	0.964357262493984	0.28754	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.52	-5.69	0.02233	1.249000	0.32441	.	.	-2.241000	0.00340	0.884000	0.31069	0.000000	0.08366	0.328000	0.25156	0.1979:0.3979:0.4042:0.0	8.698	0.33469	612	0.66786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006559	0.030612	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1004.33	34	chr19	44793510	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.665;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.481;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr19	44820707	44820707	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_005581:exon14:c.C1766T:p.P589L	.	415	1094	13	0	0	13	0.00590641	.	.	.	2808884	not_provided|BCAM-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0040	0.00139776	0.0157	0.0025	0.0059	0	0.0268	0.0244	0	0.0068	0.0034282	530	154602	rs199854072	0.0053	0.0051	0.0052	0.0054	0.0057	0.0052	0.0051	0.0056	0.0055	0.0006	0.0017	0.0085	0	0.0051	0.0056	0.0057	0.0052	0.0032	0.0040	0.0040	0.0042	0.0037	0.0065	0.0037	0.0036	0.0060	0.0058	0.0008	0	0.0030	0.0081	0	0.0037	0.0034	0.0065	0.0033	0.0023	0.035	0.43708	D	0.133	0.34359	T	0.885	0.48692	P	0.073	0.28123	B	.	.	.	.	0.978567	0.39474	D	0.69	0.16971	N	0.1	0.61326	T	-2.73	0.58085	D	0.402	0.44283	-0.9670	0.37814	T	0.069	0.28180	T	9	0.0057311356	0.00128	T	.	.	.	0.137	0.36984	.	.	0.322510055762	0.31862	0.28723523155016706	0.28636	0.233912670961	0.25927	0.516723573208	0.41165	T	0.332872	0.70279	T	-0.38044	0.03097	T	-0.314687	0.43155	T	0.0144154059033778	0.00290	T	0.759324	0.38363	T	0.082911685	0.19121	0.10947777	0.26387	0.09286807	0.21797	0.12886077	0.30993	-4.378	0.29257	T	.	.	0.074	0.05231	B	.	.	2.816603	0.37091	20.4	0.82080022366800431	0.14008	0.21612	0.21463	N	AEFDBHCI	0.148151	0.27198	N	-0.0544417145878932	0.39404	2.323184	-0.0388306759936838	0.37978	2.231064	0.989842956321771	0.31953	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604282	0.37693	0	.	.	4.39	3.32	0.37134	1.895000	0.39411	.	.	0.593000	0.32247	0.935000	0.32453	1.000000	0.68203	0.047000	0.14932	0.0:0.8882:0.0:0.1118	8.920	0.34763	604	0.67577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005133	0.000000	0.008197	0.000000	0.000000	0.000000	0.009494	0.000000	0.02632	386.33	30	chr19	44820707	.	C	T	386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=539;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.503;SOR=0.277	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,866	18	0	1	0
chr19	44865412	44865412	C	T	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_001042724:exon2:c.C230T:p.A77V,NECTIN2:NM_002856:exon2:c.C230T:p.A77V	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.01943222986	7.7e-05	.	0.0001	0	0.0004	0	0	0.0001	0	0	0.00011	17	154602	rs111808500	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	8.961e-05	0.0005	0	0	0	0.0002	0.0002	0.0003	6.956e-05	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	9.652e-05	0	0.0005	0	0	0	0	0.0003	0.0010	0.0002	0.333	0.19430	T	0.232	0.24987	T	0.096	0.25489	B	0.013	0.17295	B	0.262576	0.03719	N	1.585450	1	0.08975	N	.	.	.	-0.2	0.66113	T	-1.73	0.41046	N	0.062	0.03392	-1.0810	0.07156	T	0.083	0.32700	T	10	0.04402581	0.03316	T	0.019432	0.41790	T	0.124	0.34239	.	.	0.358880540497	0.35496	0.4784578468497368	0.47765	0.391724164423	0.40370	0.283132612705	0.07933	T	0.185899	0.53902	T	-0.506333	0.00527	T	-0.630939	0.10343	T	0.0281611378101316	0.01712	T	0.439856	0.12136	T	0.08428301	0.19500	0.093983546	0.22225	0.08428301	0.19500	0.093983546	0.22224	-4.704	0.33453	T	.	.	0.086	0.10545	B	.;.	.;.	-0.499673	0.01867	0.152	0.88326500274217468	0.17890	0.01889	0.05802	N	AEFBI	0.092032	0.18636	N	-1.67420402071542	0.00937	0.0405921	-1.738401244536	0.00978	0.04379918	0.00627609187380213	0.11174	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.33	-5.77	0.02176	0.037000	0.13728	.	.	-4.599000	0.00025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2868:0.2892:0.1884:0.2357	0.333	0.00299	825	0.40060	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4321.81	141	chr19	44865412	.	C	T	4321.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.65;SOR=0.736	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	1	0	0
chr19	44878390	44878390	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1210A:p.D404N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0463192631864	.	0.000199681	0.0001	0	0	0	0	9.602e-05	0	0.0002	3.88e-05	6	154602	rs538246369	5.478e-05	5.678e-05	3.653e-05	7.35e-05	0.0002	4.448e-05	4.11e-05	0.0001	0.0001	0	5.566e-05	0	0	0	0.0002	5.176e-05	1.713e-05	0.0002	6.575e-06	6.563e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.879	0.02550	T	1.0	0.01155	T	0.431	0.35606	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	.	.	.	0.08	0.61559	T	0.83	0.01787	N	0.152	0.15609	-1.0414	0.16890	T	0.075	0.30303	T	9	0.025588304	0.00748	T	0.046319	0.62400	D	0.037	0.09474	.	.	0.43068463968	0.42687	.	.	.	.	.	.	.	.	.	.	-0.524973	0.00411	T	-0.677606	0.07131	T	0.0134074353558984	0.00243	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	-4.596	0.32121	T	.	.	0.087	0.11124	B	.	.	0.612839	0.09813	6.577	0.44221108137943765	0.03384	0.05806	0.11743	N	AEFDBHI	0.057132	0.10617	N	-1.21189859305094	0.04826	0.2186455	-1.29770030131503	0.04462	0.2105159	0.997836023911935	0.36087	0.706548	0.73137	0	0.588015	0.36545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.61	-4.59	0.03158	-0.035000	0.12156	.	.	-0.251000	0.07141	0.000000	0.06391	0.394000	0.24678	0.021000	0.11733	0.4419:0.2619:0.2961:0.0	5.323	0.15197	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1227.33	33	chr19	44878390	.	G	A	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=760;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.395;SOR=0.892	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr19	44878491	44878491	T	G	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.T1311G:p.D437E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.030349315098	.	.	1.071e-05	0	0	0	0	1.938e-05	0	0	3.84e-05	1	26028	rs750653920	4.796e-06	4.788e-06	4.09e-06	5.51e-06	1.162e-05	2e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.4e-06	0	1.162e-05	6.595e-06	6.574e-06	0	1.351e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.814	0.03005	T	0.475	0.12072	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999975	0.53665	D	.	.	.	0.02	0.62318	T	-0.24	0.10833	N	0.126	0.11912	-0.9679	0.37632	T	0.041	0.17573	T	9	0.024623632	0.00684	T	0.030349	0.52677	D	0.062	0.17934	0.16	0.06396	0.204265027416	0.20035	.	.	.	.	.	.	.	.	.	.	-0.324968	0.06498	T	-0.67435	0.07333	T	0.0186735443703199	0.00580	T	0.193081	0.02071	T	.	.	.	.	.	.	.	.	-0.59	0.00641	T	.	.	0.061	0.01179	B	.	.	-0.665246	0.01403	0.082	0.29065761121918843	0.01523	0.02274	0.06564	N	AEFBHCI	0.040646	0.06074	N	-2.45953044927843	0.00020	0.0008552747	-2.35616705202297	0.00050	0.002182109	0.983808611985189	0.30617	0.706548	0.73137	0	0.588015	0.36545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.77	-4.6	0.03148	-4.607000	0.00241	.	.	-3.558000	0.00076	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2328:0.1001:0.4546:0.2125	2.302	0.03910	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	33	chr19	44878491	.	T	G	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=763;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.249;SOR=0.446	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr19	44942298	44942298	G	C	exonic	APOC4	.	nonsynonymous SNV	APOC4:NM_001646:exon1:c.G21C:p.R7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0103524759829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.48855	D	0.395	0.34724	B	0.069	0.27757	B	0.144535	0.18175	N	0.408870	1	0.08975	N	1.65	0.42232	L	1.93	0.77593	T	.	.	.	0.216	0.24135	-1.0567	0.12595	T	0.041	0.17785	T	10	0.14494312	0.27501	T	0.010352	0.26785	T	.	.	0.392	0.41606	0.691401027782	0.68875	0.2543265216380271	0.25346	.	.	.	.	.	0.375246	0.73889	T	-0.128725	0.31703	T	-0.422681	0.30769	T	0.096106082201004	0.11922	T	0.449655	0.12671	T	0.10862433	0.25682	0.06726612	0.13893	0.10862433	0.25682	0.06726612	0.13892	-3.507	0.16529	T	.	.	0.155	0.49255	B	.;.;.	.;.;.	1.134560	0.15214	11.68	0.95577670132339132	0.27280	0.10162	0.15744	N	AEFDBHCI	0.331150	0.43096	N	-0.795858428589965	0.13417	0.6608336	-0.950757020310716	0.10905	0.5522883	0.00264573418852967	0.09600	0.487112	0.14033	0	0.491513	0.07743	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.06	-0.506	0.11391	0.242000	0.17862	.	.	0.656000	0.54149	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1253:0.4191:0.4556:0.0	5.133	0.14251	873	0.30802	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	36	chr19	44942298	.	G	C	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=815;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=1.67;SOR=0.608	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	44990402	44990402	G	C	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon10:c.G1098C:p.Q366H,CLPTM1:NM_001282176:exon10:c.G834C:p.Q278H,CLPTM1:NM_001294:exon10:c.G1140C:p.Q380H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0921263832564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000035	0.55875	D	0.124846	1	0.81001	D	3.055	0.86842	M	.	.	.	-4.73	0.80085	D	0.839	0.84401	0.062	0.83463	D	0.484	0.80296	T	9	0.9059087	0.89955	D	0.092126	0.75835	D	0.426	0.73372	0.64	0.77687	0.793154707021	0.79123	0.6706760253147969	0.67005	1.72895118267	0.90712	0.759910821915	0.75915	T	0.324796	0.69557	T	0.318671	0.84375	D	0.219972	0.84172	D	0.996466636657715	0.89398	D	0.945605	0.79272	D	0.9530516	0.96576	0.9066895	0.95452	0.9530516	0.96577	0.9066895	0.95453	-12.036	0.85345	D	.	.	0.968	0.89183	P	.;.;.	.;.;.	3.675879	0.52298	23.2	0.99739992068330596	0.83409	0.91822	0.54337	D	AEFBCI	0.749021	0.69059	D	0.605583950514771	0.73526	5.980744	0.492574129432833	0.67497	5.091921	0.981324894050517	0.30248	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.8	3.77	0.42499	2.994000	0.49121	.	.	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0919:0.0:0.9081:0.0	10.892	0.46207	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2323.33	41	chr19	44990402	.	G	C	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=813;ExcessHet=0;FS=1.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=0.521;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	18	0	1	0
chr19	45012268	45012268	G	A	exonic	RELB	.	unknown	UNKNOWN	.	432	1087	3	0	0	3	0.00137804	.	.	.	1540890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0298161269458	.	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0005	0.0001164	18	154602	rs200472617	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0007	0.0005	0.0002	5.538e-05	0.0032	0	0	0.0016	5.772e-05	0.0002	0.0004	0.0002	0.0002	0.0002	9.408e-05	0.0001	0.0001	8.72e-05	4.767e-05	3.341e-05	0	0	0.0001	0.0032	0	0	0.0034	0.0001	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.215	0.30128	B	0.023	0.19966	B	0.004873	0.33312	N	0.237664	0.999995	0.58761	D	-0.6	0.02229	N	1.08	0.39401	T	-0.02	0.07299	N	0.189	0.20793	-1.0395	0.17465	T	0.035	0.15160	T	10	0.011591613	0.00253	T	0.029816	0.52254	D	0.159	0.41286	.	.	0.535170796658	0.53167	0.6394812858940292	0.63883	0.589527723928	0.54450	0.790903270245	0.80581	T	0.120778	0.44326	T	-0.366519	0.03774	T	-0.44229	0.28552	T	0.0421848628482377	0.04088	T	0.822018	0.48145	T	0.057123624	0.11327	0.071926065	0.15459	0.057123624	0.11327	0.071926065	0.15459	-0.627	0.00667	T	.	.	0.193	0.42506	B	.;.;.	.;.;.	2.678049	0.34927	19.76	0.70212321192546201	0.09222	0.29257	0.23774	N	AEFDBHCI	0.133271	0.25288	N	-0.687591467125662	0.16374	0.8336832	-0.509554323098256	0.21894	1.186543	0.854002464587328	0.25097	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.16	4.16	0.48138	-0.210000	0.09349	.	.	-0.265000	0.06832	0.000000	0.06391	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	13.987	0.63858	883	0.28872	Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004077	0.000000	0.008174	0.002924	0.000000	0.008772	0.000000	0.003817	0.02632	232.33	32	chr19	45012268	.	G	A	232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.409;SOR=0.591	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,740	18	0	1	0
chr19	45067497	45067497	C	T	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon13:c.C1384T:p.R462C,CLASRP:NM_007056:exon14:c.C1570T:p.R524C	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00883590167705	.	.	5.803e-05	0	0.0004	0	0	0	0	0.0001	1.94e-05	3	154602	rs777059682	2.237e-05	2.395e-05	1.944e-05	2.533e-05	0.0001	1.619e-05	1.385e-05	5.545e-05	4.15e-05	6.102e-05	2.39e-05	0	0	0	0	1.725e-05	1.685e-05	0.0001	6.583e-06	6.573e-06	0	1.348e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.005	0.72154	D	0.015	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.004169	0.34034	U	0.000000	0.999904	0.50806	D	.	.	.	1.76	0.25996	T	-1.05	0.31170	N	0.135	0.20262	-1.0805	0.07252	T	0.029	0.12453	T	10	0.043747574	0.03258	T	0.008836	0.23318	T	0.033	0.08068	0.25	0.18757	0.043077524339	0.03247	0.34197553421492005	0.34110	0.987874947334	0.73974	0.385233700275	0.22995	T	0.025399	0.18998	T	-0.339395	0.05430	T	-0.538756	0.18419	T	0.282521843910217	0.24277	T	0.740726	0.35986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36633	B	.;.;.	.;.;.	3.628304	0.51387	23.1	0.9905755853423085	0.51413	0.30806	0.24177	N	AEFDBCI	0.110899	0.21976	N	-0.691090581408783	0.16273	0.8276962	-0.616157718745024	0.19078	1.02202	0.055757117246681	0.15029	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.54	2.5	0.29355	0.107000	0.15212	2.937000	0.35646	0.596000	0.33519	0.000000	0.06391	0.250000	0.23912	0.411000	0.27028	0.0:0.8741:0.0:0.1259	6.944	0.23690	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	826.33	34	chr19	45067497	.	C	T	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.806;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr19	45145566	45145571	GACTCA	-	exonic	PPP1R37	.	nonframeshift deletion	PPP1R37:NM_019121:exon11:c.1510_1515del:p.S511_D512del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0010	0.0188	0.0125	0	0	0	0	0.0001	0.0001537	4	26028	rs569989734	0.0004	0.0004	0.0005	0.0004	0.0126	0.0004	0.0004	0.0116	0.0111	0.0126	0.0008	0	2.799e-05	0	0.0002	6.675e-05	0.0010	8.838e-05	0.0038	0.0039	0.0042	0.0035	0.0130	0.0036	0.0035	0.0121	0.0117	0.0130	0	0.0022	0	0	0	0	8.83e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1783.29	36	chr19	45145565	.	GGACTCA	G	1783.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.928;DP=747;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.26;ReadPosRankSum=1.68;SOR=0.802	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1797,0,1484	18	0	1	0
chr19	45155897	45155897	G	C	exonic	NKPD1	.	nonsynonymous SNV	NKPD1:NM_198478:exon3:c.C549G:p.D183E	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0101	0.00239617	0.0075	0.0023	0.0025	0	0	0.0111	0.0053	0.0061	0.0023092	357	154602	rs144764378	0.0121	0.0095	0.0123	0.0118	0.0135	0.0119	0.0118	0.0133	0.0132	0.0016	0.0071	0.0146	0	0.0008	0.0039	0.0135	0.0122	0.0056	0.0074	0.0074	0.0080	0.0068	0.0116	0.0071	0.0069	0.0109	0.0107	0.0025	0	0.0093	0.0121	0	0.0009	0	0.0116	0.0095	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3206.83	33	chr19	45155897	.	G	C	3206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.942;DP=865;ExcessHet=0.119;FS=0.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.589;SOR=0.628	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1324	17	0	2	0
chr19	45348072	45348072	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.C691T:p.R231C	.	418	1102	2	0	0	2	0.000906618	.	.	.	3452338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.159609576614	7.7e-05	.	0.0004	0.0006	0	0.0002	0	0.0001	0	0.0014	0.0001552	24	154602	rs375917528	9.309e-05	9.44e-05	7.402e-05	0.0001	0.0006	8.022e-05	7.491e-05	0.0005	0.0004	9.023e-05	2.328e-05	0	7.664e-05	0	0	6.324e-05	0.0001	0.0006	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0004	3.077e-05	2.21e-05	7.285e-05	3.027e-05	9.65e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.002	0.83351	D	0.034	0.20480	B	0.013	0.16460	B	0.000178	0.48594	D	0.081040	0.999863	0.50061	D	1.245	0.31408	L	0.69	0.51714	T	-5.01	0.82450	D	0.556	0.58798	-1.0042	0.28696	T	0.088	0.34023	T	10	0.09420344	0.16730	T	0.15961	0.83978	D	0.114	0.32008	.	.	0.560228584591	0.55684	0.6121561658443477	0.61147	0.0643067780988	0.07168	0.730396389961	0.71564	T	0.525515	0.83485	D	-0.365866	0.03809	T	-0.385047	0.35131	T	0.18724508054785	0.19680	T	0.866613	0.56692	D	0.590508	0.72178	0.37259114	0.62464	0.590508	0.72179	0.37259114	0.62464	-11.369	0.82074	D	.	.	0.424	0.68235	A	.;.;.;.;.	.;.;.;.;.	5.674132	0.92956	33	0.99867812666052769	0.94547	0.77855	0.38330	D	AEFDBCI	0.523696	0.54719	D	-0.274127952107889	0.30151	1.67852	-0.187514263725576	0.31994	1.81596	0.928132412965094	0.26917	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	2.2	0.26966	2.495000	0.44997	1.332000	0.25676	0.580000	0.29708	1.000000	0.71638	0.988000	0.31051	0.978000	0.57271	0.2318:0.6431:0.0:0.1251	4.035	0.09209	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	34	chr19	45348072	.	C	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.908;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1136	18	0	1	0
chr19	45382684	45382684	T	C	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon12:c.A2291G:p.Y764C,PPP1R13L:NM_006663:exon12:c.A2291G:p.Y764C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0689361778245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.515	0.38264	L	2.28	0.17271	T	-7.59	0.95305	D	0.71	0.71321	-0.8722	0.50364	T	0.135	0.44875	T	10	0.80727684	0.80052	D	0.068936	0.70589	D	0.350	0.67142	0.503	0.59615	0.776606504809	0.77455	0.9295045597685343	0.92928	1.40683877804	0.85340	0.846387863159	0.89069	D	0.590991	0.86750	D	0.0350024	0.56388	T	-0.187498	0.55824	T	0.995670318603516	0.87860	D	0.965903	0.87416	D	0.7791217	0.82600	0.34239444	0.59966	0.7791217	0.82602	0.34239444	0.59965	-9.101	0.68343	D	.	.	0.636	0.70369	P	.;.	.;.	4.257522	0.64674	24.7	0.99383757703993891	0.62024	0.93944	0.59646	D	AEFDGBI	0.829285	0.74822	D	0.686138829603942	0.78724	6.929626	0.603662364291024	0.75206	6.269628	0.999742987359126	0.42466	0.706548	0.73137	0	0.693144	0.66847	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	4.866000	0.62702	4.114000	0.41935	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	11.970	0.52347	845	0.36510	SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2084.33	39	chr19	45382684	.	T	C	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.664;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.355;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	18	0	1	0
chr19	45408641	45408641	G	A	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.G679A:p.E227K,POLR1G:NM_012099:exon3:c.G673A:p.E225K	.	398	1116	7	1	0	9	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0136400898117	0.0019	0.000798722	0.0013	0.0005	8.67e-05	0	0.0008	0.0017	0.0045	0.0013	0.0012807	198	154602	rs113047593	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	4.472e-05	3.826e-05	0	0.0005	0.0019	0.0023	0.0014	0.0022	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0	0	0	0	0	0.0020	0.0009	0.0017	0.053	0.38863	T	0.06	0.45744	T	1.0	0.90584	D	0.985	0.76457	D	0.034747	0.24730	N	0.336436	0.783742	0.29304	N	2.72	0.79541	M	2.5	0.14408	T	-1.66	0.39692	N	0.15	0.20793	-1.0743	0.08493	T	0.079	0.31435	T	10	0.009910941	0.00222	T	0.01364	0.33196	T	0.060	0.17295	.	.	0.294206760003	0.29026	0.2180586157471834	0.21721	0.600283134816	0.55121	0.332840621471	0.15362	T	0.018136	0.14670	T	-0.507029	0.00522	T	-0.494549	0.22916	T	0.0306642108923069	0.02093	T	0.60064	0.22426	T	0.099687874	0.23530	0.1127208	0.27200	0.099687874	0.23530	0.1127208	0.27199	-6.752	0.52418	T	.	.	0.096	0.15206	B	.;.	.;.	2.027335	0.25767	16.88	0.99121188166760132	0.52985	0.17794	0.19990	N	AEFBCI	.	.	.	0.0451845354351822	0.43921	2.675719	-0.153414909380274	0.33278	1.901862	0.99981760845323	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.33	4.33	0.51083	1.935000	0.39802	.	.	0.676000	0.76740	0.037000	0.20830	.	.	0.013000	0.09966	0.0:0.2012:0.7987:0.0	10.261	0.42604	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002075	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.011450	0.02632	1508.33	60	chr19	45408641	.	G	A	1508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.43;DP=901;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.317;SOR=0.453	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	18	0	1	0
chr19	45409047	45409047	C	T	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.C1085T:p.P362L,POLR1G:NM_012099:exon3:c.C1079T:p.P360L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00411795089726	.	.	8.306e-06	0	8.648e-05	0	0	0	0	0	6.5e-06	1	154602	rs764743323	1.368e-06	1.368e-06	2.722e-06	0	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04548	T	0.125	0.35455	T	0.0	0.07471	B	0.001	0.06944	B	0.094852	0.02491	N	2.084360	1	0.08975	N	1.01	0.25309	L	2.69	0.12473	T	-2.77	0.58733	D	0.062	0.04307	-1.0244	0.22279	T	0.016	0.06569	T	10	0.031610817	0.01298	T	0.004118	0.09869	T	0.033	0.08068	0.125	0.03095	0.0482279557977	0.04254	0.029526640245192717	0.02901	0.160340197242	0.18093	0.249185532331	0.03682	T	0.080865	0.36464	T	-0.519024	0.00446	T	-0.807472	0.01723	T	0.0519084737306313	0.05832	T	0.539746	0.18256	T	0.031241355	0.02928	0.040624917	0.04433	0.031241355	0.02928	0.040624917	0.04432	-2.534	0.06018	T	.	.	0.069	0.04477	B	.;.	.;.	-1.305223	0.00434	0.009	0.64888064012202662	0.07618	0.05986	0.11948	N	AEFBCI	.	.	.	-1.54134224842636	0.01585	0.06928569	-1.67426712893245	0.01256	0.0565879	0.999999951865667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.99	-9.99	0.00358	-2.205000	0.01316	-3.541000	0.02709	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3236:0.1183:0.4315:0.1266	4.339	0.10541	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	60	chr19	45409047	.	C	T	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1221;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-2.846;SOR=0.612	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	18	0	1	0
chr19	45472864	45472864	G	A	exonic	FOSB	.	nonsynonymous SNV	FOSB:NM_001114171:exon3:c.G761A:p.G254D,FOSB:NM_006732:exon4:c.G869A:p.G290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0205580555219	0.0008	0.00119808	0.0004	0.0015	0.0013	0	0	0.0002	0	0.0002	0.0003622	56	154602	rs139625208	0.0002	0.0002	0.0003	0.0002	0.0016	0.0002	0.0002	0.0012	0.0011	0.0016	0.0014	0	2.519e-05	0	0.0012	0.0002	0.0007	9.275e-05	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0005	0.0012	0.0011	0.0015	0	0.0017	0	0	0	0.0068	0.0001	0.0009	0.0002	0.075	0.34444	T	0.667	0.60972	T	1.0	0.90584	D	0.998	0.88582	D	0.000192	0.48115	D	0.181773	1	0.81001	D	0.895	0.22405	L	0.67	0.52187	T	-1.08	0.30555	N	0.281	0.32921	-0.9145	0.46285	T	0.141	0.46091	T	10	0.021095157	0.00498	T	0.020558	0.43179	T	0.264	0.57741	.	.	0.640670019896	0.63770	0.5791658900950816	0.57845	2.09917820347	0.94799	0.834728837013	0.87287	D	0.379317	0.74209	T	-0.0889705	0.38246	T	0.101758	0.77023	D	0.0114591147743662	0.00172	T	0.849515	0.54093	T	0.21576269	0.44017	0.20960273	0.45311	0.21576269	0.44017	0.20960273	0.45310	-4.42	0.29827	T	.	.	0.144	0.52202	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.481195	0.69914	25.4	0.99837556049404286	0.91886	0.88763	0.48848	D	AEFDBHCIJ	0.858847	0.77642	D	0.509638233207127	0.67656	5.111088	0.520701201400297	0.69385	5.352789	0.999999999999991	0.74766	0.685219	0.55550	0	0.627178	0.54094	0	0.674405	0.61402	0	0.592323	0.36904	0	.	.	4.74	4.74	0.59717	3.769000	0.55013	9.723000	0.81373	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.161	0.58965	803	0.44167	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	4229.33	45	chr19	45472864	.	G	A	4229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.606;DP=934;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.17;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	18	0	1	0
chr19	45498640	45498640	C	A	exonic	PPM1N	.	nonsynonymous SNV	PPM1N:NM_001080401:exon1:c.C168A:p.H56Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0371283307711	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470337318	5.548e-06	5.472e-06	3.103e-06	8.1e-06	6.664e-05	2.31e-06	1.48e-06	2.255e-05	1.347e-05	0	0	0	0	0	0	2.938e-06	0	6.664e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.014	0.53172	D	0.103	0.38305	T	0.09	0.25173	B	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	1.57	0.29342	T	-0.29	0.11728	N	0.2	0.22098	-1.0799	0.07368	T	0.035	0.15204	T	9	0.08162439	0.13382	T	0.037128	0.57424	D	0.051	0.14325	0.234	0.16305	0.0401082797425	0.02173	0.15347563145219442	0.15269	2.331011174	0.96675	0.763875961304	0.76507	T	0.00944	0.08594	T	-0.182646	0.23342	T	-0.500135	0.22333	T	0.579374253749847	0.35594	D	0.431557	0.11736	T	0.13585573	0.31516	0.20663705	0.44887	0.13585573	0.31516	0.20663705	0.44886	-2.084	0.03516	T	.	.	0.174	0.38190	B	.	.	1.872669	0.23790	16.15	0.90384137946427578	0.19646	0.22005	0.21599	N	ALL	0.135718	0.25614	N	-0.848302406639686	0.12092	0.5873232	-0.807875419962182	0.14305	0.7467685	0.999999995125916	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.48	1.33	0.20958	-0.458000	0.06813	-2.091000	0.04227	0.466000	0.21733	0.051000	0.21449	0.000000	0.08366	0.601000	0.31412	0.0:0.745:0.0:0.255	5.633	0.16799	797	0.45241	PPM-type phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1389.33	33	chr19	45498640	.	C	A	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=815;ExcessHet=0;FS=3.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.178;SOR=0.441	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	18	0	1	0
chr19	45672868	45672868	C	T	exonic	GIPR	.	nonsynonymous SNV	GIPR:NM_001308418:exon4:c.C190T:p.L64F,GIPR:NM_000164:exon5:c.C298T:p.L100F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0126553452674	0.0015	0.000998403	0.0003	0.0035	0.0003	0	0	0	0	6.056e-05	0.0003234	50	154602	rs150952013	0.0001	0.0001	0.0001	9.64e-05	0.0033	0.0001	9.584e-05	0.0028	0.0026	0.0033	0.0004	0	0	0	0	2.704e-06	0.0006	4.64e-05	0.0011	0.0012	0.0011	0.0012	0.0033	0.0010	0.0010	0.0029	0.0027	0.0033	0	0.0019	0	0	0	0	2.94e-05	0.0024	0	0.638	0.05954	T	0.542	0.09690	T	0.011	0.15914	B	0.015	0.17295	B	0.010225	0.30012	N	0.156370	0.980361	0.25117	N	-0.205	0.04094	N	0.65	0.52642	T	1.69	0.00719	N	0.238	0.26837	-1.0330	0.19490	T	0.027	0.11663	T	10	0.015199989	0.00319	T	0.012655	0.31409	T	0.057	0.16321	.	.	0.316494231283	0.31262	0.4099398032278919	0.40909	0.268628415227	0.29378	0.542260408401	0.44766	T	0.091727	0.38856	T	-0.516123	0.00463	T	-0.514433	0.20860	T	0.00430993583970375	0.00046	T	0.644436	0.26583	T	0.0946636	0.22262	0.064324185	0.12875	0.0946636	0.22262	0.064324185	0.12874	-1.036	0.02917	T	.	.	0.064	0.07889	B	.;.;.	.;.;.	1.444708	0.18651	13.85	0.95286723601434298	0.26589	0.46158	0.27698	N	AEFDBI	0.108265	0.21542	N	-0.594311242550781	0.19115	0.9979886	-0.348005478714782	0.26571	1.468518	0.988201356004967	0.31443	0.719381	0.83141	0	0.723133	0.82719	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.81	3.77	0.42499	1.068000	0.30239	2.482000	0.32945	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.8878:0.0:0.1122	8.045	0.29703	851	0.35303	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1002.33	34	chr19	45672868	.	C	T	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.322;DP=702;ExcessHet=0;FS=4.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.25;SOR=0.375	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1016,0,1091	18	0	1	0
chr19	45766941	45766941	C	T	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon2:c.G1018A:p.G340R	Branchiootorenal syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.433820689557	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768789921	2.11e-06	4.104e-06	2.788e-06	1.42e-06	3.076e-05	5.6e-07	1.6e-07	3e-07	1.1e-07	3.076e-05	0	0	0	0	0	1.828e-06	0	0	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.901	0.63994	P	0.001994	0.37503	N	0.179187	0.996629	0.81001	D	0.805	0.20218	L	-4.12	0.96716	D	-2.21	0.49684	N	0.926	0.93018	0.721	0.93436	D	0.846	0.94853	D	10	0.7137333	0.73210	D	0.433821	0.94033	D	0.615	0.84986	0.53	0.63707	0.904981934743	0.90403	0.8218088457578865	0.82137	0.327390356047	0.34875	0.766449511051	0.76892	T	0.387173	0.74815	T	0.185589	0.72557	D	0.028809	0.72201	D	0.733397085840166	0.42386	D	0.844715	0.52235	T	0.21282837	0.43646	0.33681035	0.59479	0.21282837	0.43646	0.33681035	0.59478	-9.36	0.69984	D	0.6858599572735534	0.76290	0.667	0.71623	P	.;.	.;.	4.706289	0.75561	26.4	0.99871512549117014	0.94902	0.78268	0.38589	D	AEFDBCI	0.432529	0.49437	N	0.199127602972168	0.51158	3.299246	0.11523986011299	0.45327	2.797854	0.999992057147127	0.74766	0.766844	0.99359	0	0.633656	0.55848	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	4.51	2.36	0.28258	2.525000	0.45258	5.954000	0.51702	0.599000	0.40250	0.805000	0.29786	1.000000	0.68203	0.421000	0.27250	0.0:0.7945:0.0:0.2055	8.001	0.29456	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	902.33	34	chr19	45766941	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.13;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	45770512	45770512	G	A	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon13:c.C1595T:p.A532V,DMPK:NM_001081562:exon15:c.C1847T:p.A616V	Myotonic dystrophy 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.148396511481	.	0.000998403	0.0022	0	0	0	0	0.0002	0	0.0046	0.0002781	43	154602	rs531756343	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.802e-05	0	2.798e-05	0	0.0009	8.343e-06	0.0003	0.0048	0.0002	0.0002	6.422e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99666	0.43340	D	.	.	.	-0.33	0.68329	T	-0.77	0.21429	N	0.104	0.10769	-1.0542	0.13251	T	0.135	0.44933	T	8	0.005459368	0.00120	T	0.148397	0.83032	D	0.122	0.33800	.	.	0.549249573952	0.54581	.	.	.	.	.	.	.	.	.	.	-0.262024	0.12665	T	-0.148065	0.59414	T	0.0739941283604596	0.09201	T	0.482252	0.14601	T	.	.	.	.	.	.	.	.	-4.563	0.31703	T	.	.	0.080	0.07889	B	.;.;.	.;.;.	0.893882	0.12673	9.198	0.98345346053517269	0.40487	0.12524	0.17321	N	ALL	0.147224	0.27085	N	-0.862451051455916	0.11746	0.5685043	-0.870956801713305	0.12785	0.6596362	0.999999999997198	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.06	1.89	0.24700	0.288000	0.18695	2.195000	0.31239	-0.208000	0.08445	0.000000	0.06391	0.978000	0.30204	0.045000	0.14751	0.1101:0.1986:0.6913:0.0	5.650	0.16888	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	765.33	36	chr19	45770512	.	G	A	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=722;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-1.963;SOR=0.89	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1072	18	0	1	0
chr19	45804737	45804737	C	T	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon3:c.G1168A:p.E390K	.	258	1258	6	0	0	6	0.00237906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.006841716004	.	0.000399361	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs143615549	7.393e-05	7.388e-05	6.675e-05	8.119e-05	0.0017	6.252e-05	5.811e-05	0.0009	0.0007	0	0	0	0	0	0.0017	5.758e-05	8.285e-05	0.0003	6.569e-05	6.562e-05	7.713e-05	5.374e-05	0.0001	3.516e-05	2.616e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0.0102	0.0001	0	0	0.133	0.26409	T	0.224	0.39040	T	0.945	0.53279	P	0.821	0.59116	P	0.097437	0.20027	N	0.503818	0.993778	0.42049	D	2.265	0.64440	M	2.27	0.17431	T	-2.42	0.53096	N	0.195	0.31027	-1.1170	0.02531	T	0.072	0.29387	T	10	0.08978012	0.15582	T	0.006842	0.18093	T	0.165	0.42395	.	.	0.126345400529	0.12197	0.3508631532920222	0.35000	0.163228410601	0.18421	0.378329992294	0.22019	T	0.034309	0.23270	T	-0.361315	0.04057	T	-0.477346	0.24729	T	0.265101373195648	0.23537	T	0.712529	0.40460	T	0.22602035	0.45274	0.20944598	0.45289	0.22602035	0.45274	0.20944598	0.45288	-5.746	0.44101	T	.	.	0.120	0.28492	B	.;.;.	.;.;.	3.769660	0.54139	23.4	0.99901287483541212	0.97275	0.98027	0.78987	D	AEFBI	0.629589	0.61125	D	0.295258906284623	0.55908	3.754925	0.252999491050707	0.52819	3.454331	0.999788694899179	0.43007	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.99	3.99	0.45527	3.445000	0.52685	4.752000	0.44665	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	14.434	0.66845	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2113.33	34	chr19	45804737	.	C	T	2113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.937;DP=802;ExcessHet=0;FS=2.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.316;SOR=0.689	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1212	18	0	1	0
chr19	45815687	45815687	G	A	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon27:c.C3698T:p.A1233V	.	406	1114	2	0	0	2	0.000896861	.	.	.	3609119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00432030803583	0.0003	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0008	0.0001488	23	154602	rs201620603	0.0001	0.0001	8.875e-05	0.0001	0.0007	9.011e-05	8.492e-05	0.0005	0.0004	5.996e-05	0	0	0	0.0002	0.0007	7.023e-05	9.975e-05	0.0006	0.0001	0.0001	0.0002	6.725e-05	0.0008	7.585e-05	6.288e-05	0.0003	0.0002	4.823e-05	0	0	0	0	0.0002	0	0.0001	0	0.0008	0.0	0.91255	D	0.034	0.52727	D	0.001	0.07471	B	0.001	0.04355	B	0.028601	0.25580	N	0.249318	1	0.08975	N	1.39	0.34934	L	.	.	.	-0.28	0.11547	N	0.139	0.13769	-1.0268	0.21494	T	0.062	0.25815	T	9	0.020020515	0.00455	T	0.00432	0.10498	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.1899498825234363	0.18912	0.0472776428727	0.05151	0.574481606483	0.49310	T	0.056904	0.30418	T	-0.403029	0.02211	T	-0.458118	0.26804	T	0.0914371017722209	0.11387	T	0.687031	0.29593	T	0.06061688	0.12459	0.20567888	0.44748	0.06061688	0.12458	0.20567888	0.44747	-4.601	0.32184	T	.	.	0.082	0.08754	B	.	.	2.197183	0.28021	17.66	0.99850279782559825	0.92925	0.14190	0.18271	N	AEFDGBCIJ	0.125690	0.24231	N	-0.809701129558523	0.13062	0.6408804	-0.82182035520752	0.13967	0.7273893	0.999999977585756	0.74766	0.766844	0.99359	0	0.643519	0.57511	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.78	2.73	0.31266	0.915000	0.28260	3.264000	0.37112	0.665000	0.62972	0.002000	0.15269	0.810000	0.27029	0.002000	0.04165	0.1228:0.0:0.8772:0.0	7.359	0.25906	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.001362	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	675.33	33	chr19	45815687	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=739;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.643;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,962:.	18	0	1	0
chr19	45852332	45852332	G	C	exonic	SYMPK	.	nonsynonymous SNV	SYMPK:NM_004819:exon5:c.C279G:p.I93M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0305377023431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.031	0.63918	D	0.989	0.62824	D	0.625	0.51564	P	0.000002	0.62929	D	0.057448	0.991759	0.41466	D	2.295	0.65404	M	1.36	0.89627	T	-1.58	0.38151	N	0.789	0.78546	-1.0284	0.20973	T	0.094	0.35551	T	10	0.33046818	0.50285	T	0.030538	0.52827	D	0.257	0.56827	0.54	0.65161	0.664836760558	0.66201	0.44212893527622066	0.44129	1.50845117476	0.87186	0.686780571938	0.65243	T	0.204559	0.75297	T	0.165235	0.70684	D	-0.000427302	0.70309	D	0.964954912662506	0.67117	D	0.970503	0.90741	D	0.4525708	0.64203	0.19533013	0.43205	0.4525708	0.64204	0.19533013	0.43204	-4.785	0.34416	T	.	.	0.402	0.59705	A	.;.;.;.;.;.	.;.;.;.;.;.	2.871532	0.37970	20.6	0.99198415858568068	0.55201	0.61706	0.31563	D	AEFDBIJ	0.211029	0.33686	N	-0.191437389335808	0.33489	1.90058	-0.271775508541986	0.29031	1.623357	0.960263184801046	0.28478	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.81	-1.44	0.08391	-0.176000	0.09802	-0.499000	0.08813	-0.718000	0.03832	0.589000	0.27658	0.001000	0.17328	0.991000	0.66497	0.5361:0.0:0.3233:0.1406	5.267	0.14916	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr19	45852332	.	G	C	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.97;DP=702;ExcessHet=0;FS=2.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.212;SOR=1.046	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	18	0	1	0
chr19	46008270	46008270	C	T	exonic	CCDC61	.	nonsynonymous SNV	CCDC61:NM_001267723:exon5:c.C520T:p.R174W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0135053239234	0.0013	0.000399361	0.0003	0.0038	0.0002	0	0	1.611e-05	0	0.0001	0.0002587	40	154602	rs200177760	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0031	0.0029	0.0037	0.0001	0	0	0	0.0002	4.128e-06	0.0007	0.0002	0.0010	0.0010	0.0010	0.0010	0.0035	0.0008	0.0008	0.0030	0.0028	0.0035	0	0.0001	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.968	0.71741	D	0.007586	0.31308	N	0.333473	0.99992	0.21555	N	2.175	0.60977	M	.	.	.	-2.7	0.57599	D	0.714	0.71676	-0.9287	0.44328	T	0.194	0.54696	T	9	0.029765964	0.01103	T	0.013505	0.32951	T	0.084	0.24469	.	.	0.598713980857	0.59551	0.4968982672816223	0.49610	0.950285891305	0.72592	0.674533903599	0.63485	T	0.092637	0.39045	T	-0.265096	0.12308	T	-0.155674	0.58738	T	0.100245355202728	0.12384	T	0.904909	0.66542	D	0.082344376	0.18965	0.05067159	0.08000	0.082344376	0.18964	0.05067159	0.07999	-5.574	0.59257	T	.	.	0.129	0.39965	B	.;.;.	.;.;.	3.904894	0.56908	23.8	0.99902633116955042	0.97426	0.33110	0.24749	N	AEFDBI	0.177984	0.30524	N	0.310542205679727	0.56689	3.834054	0.193787297630666	0.49506	3.152944	0.0101310941854686	0.11972	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.06	4.06	0.46572	1.161000	0.31384	0.535000	0.19282	0.599000	0.40250	0.804000	0.29773	0.086000	0.22461	0.676000	0.33425	0.2126:0.7874:0.0:0.0	9.409	0.37645	674	0.60593	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1321.71	33	chr19	46008270	.	C	T	1321.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.015;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.049;SOR=0.626	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1335,0,1064	17	0	1	1
chr19	46022911	46022911	G	T	exonic	PGLYRP1	.	nonsynonymous SNV	PGLYRP1:NM_005091:exon1:c.C111A:p.N37K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00469813131681	.	0.000599042	0.0003	0	0	0.0021	0	0.0001	0.0027	0.0006	0.0002329	36	154602	rs201657564	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0024	0.0022	2.989e-05	0	7.685e-05	0.0028	0	0	5.129e-05	0.0002	0.0005	7.875e-05	7.873e-05	6.422e-05	9.393e-05	0.0019	4.491e-05	3.508e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	1.47e-05	0	0.0002	0.192	0.20988	T	0.627	0.07267	T	0.0	0.02946	B	0.0	0.01387	B	0.815251	0.06851	N	1.101540	0.999995	0.08975	N	1.61	0.41143	L	1.03	0.40469	T	-0.03	0.07444	N	0.074	0.04790	-1.0560	0.12776	T	0.025	0.10464	T	10	0.0053204894	0.00117	T	0.004698	0.11691	T	0.006	0.00375	0.44	0.49484	0.0297737177859	0.01360	0.24773315690251207	0.24687	0.27921572844	0.30403	0.397753357887	0.24755	T	0.053422	0.29440	T	-0.596377	0.00153	T	-0.634357	0.10086	T	0.0939392408674916	0.11677	T	0.279972	0.04873	T	0.08982842	0.21001	0.073207155	0.15881	0.08982842	0.21001	0.073207155	0.15881	-3.734	0.19821	T	.	.	0.117	0.23744	B	.	.	-1.467952	0.00315	0.005	0.70826096264679939	0.09424	0.00561	0.02556	N	AEFDBI	0.038514	0.05460	N	-1.77982651153589	0.00596	0.02569743	-1.87976819733869	0.00536	0.02379689	0.999997531936235	0.74766	0.205752	0.04085	2	0.550933	0.16991	0	0.459711	0.06710	0	0.526665	0.08891	0	.	.	4.65	-9.3	0.00551	-2.547000	0.01007	-7.190000	0.01211	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2551:0.4178:0.1111:0.2161	2.532	0.04418	684	0.59539	Peptidoglycan recognition protein family domain, metazoa/bacteria	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.005848	0.000000	0.000000	0.003067	0.003788	0.02632	937.33	33	chr19	46022911	.	G	T	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.754;SOR=0.68	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	46148279	46148279	A	G	exonic	IGFL2	.	startloss	IGFL2:NM_001135113:exon1:c.A1G:p.M1V	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	0.0009	0.00359425	0.0060	0.0005	0	0.0016	0	0.0006	0.0052	0.0140	0.0011125	172	154602	rs377089398	0.0012	0.0012	0.0009	0.0016	0.0120	0.0012	0.0012	0.0114	0.0112	9.496e-05	0.0008	7.943e-05	2.798e-05	0	0.0086	0.0006	0.0014	0.0120	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	7.217e-05	0	0.0010	0	0	0	0.0170	0.0007	0.0014	0.0118	0.016	0.51853	D	0.04	0.50809	D	0.112	0.26290	B	0.028	0.21332	B	.	.	.	.	1	0.81001	D	.	.	.	1.92	0.23082	T	-2.11	0.48020	N	0.541	0.56833	-1.0141	0.25625	T	0.040	0.17319	T	8	0.007847816	0.00178	T	.	.	.	0.178	0.44724	.	.	0.165133752707	0.16062	.	.	.	.	.	.	.	0.193664	0.54920	T	-0.338231	0.05511	T	-0.246946	0.50118	T	0.00363277649447092	0.00038	T	0.9	0.65058	D	0.29324874	0.52293	0.230962	0.48214	0.29324874	0.52293	0.230962	0.48213	-8.89	0.66985	D	.	.	.	.	.	.	.	0.057319	0.04691	1.334	0.81539203245492109	0.13735	0.01646	0.05293	N	AEFBCI	0.013246	0.00170	N	-0.88481743698973	0.11203	0.5393797	-1.01601279641689	0.09433	0.46928	0.388677172421423	0.20026	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.983	0.983	0.18886	-0.268000	0.08637	0.415000	0.18155	0.483000	0.22176	0.046000	0.21249	0.000000	0.08366	0.024000	0.12247	1.0:0.0:0.0:0.0	4.179	0.09826	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010148	0.005882	0.003448	0.003906	0.000000	0.000000	0.010417	0.000000	0.02632	1166.33	39	chr19	46148279	.	A	G	1166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.859;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.323;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1362	18	0	1	0
chr19	46160724	46160724	G	A	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.G184A:p.E62K,IGFL2:NM_001002915:exon4:c.G217A:p.E73K	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00359425	0.0021	0.0006	0.0007	0.0001	0	0.0007	0.0022	0.0118	0.0019663	304	154602	rs201027157	0.0012	0.0012	0.0008	0.0016	0.0118	0.0012	0.0011	0.0112	0.0110	0.0002	0.0008	7.652e-05	2.519e-05	3.745e-05	0.0085	0.0005	0.0015	0.0118	0.0009	0.0009	0.0007	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	0.0002	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.138	0.25873	T	0.277	0.25210	T	0.038	0.24734	B	0.01	0.16862	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.24	0.17923	T	1.16	0.01136	N	0.27	0.30574	-1.0120	0.26291	T	0.020	0.08500	T	9	0.004786551	0.00101	T	.	.	.	0.015	0.02232	.	.	0.238096912614	0.23440	0.14811119383218502	0.14733	0.112610028848	0.12714	0.330738186836	0.15047	T	0.026954	0.19841	T	-0.697505	0.00038	T	-0.763663	0.02983	T	0.00347277769120586	0.00037	T	0.278472	0.04815	T	0.022081917	0.00848	0.040212702	0.04292	0.022081917	0.00848	0.040212702	0.04292	-3.622	0.18466	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	-0.599967	0.01572	0.104	0.53376249297463041	0.04928	0.00107	0.00683	N	AEFBI	0.020659	0.00838	N	-1.95927417860576	0.00258	0.01108373	-2.07184237032582	0.00215	0.009451749	0.944152209158982	0.27602	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-5.65	0.02262	-2.833000	0.00811	-5.104000	0.01848	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4761:0.1637:0.3601:0.0	7.865	0.28693	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.006793	0.014620	0.000000	0.008621	0.015244	0.003788	0.02632	5119.33	34	chr19	46160724	.	G	A	5119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.362;DP=925;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=0.512;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1145:.	18	0	1	0
chr19	46160730	46160730	C	T	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.C190T:p.R64C,IGFL2:NM_001002915:exon4:c.C223T:p.R75C	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0007	0.00359425	0.0021	0.0005	0.0007	0.0002	0	0.0007	0.0022	0.0119	0.0020246	313	154602	rs199636519	0.0012	0.0012	0.0009	0.0016	0.0118	0.0012	0.0012	0.0112	0.0109	0.0001	0.0008	7.652e-05	0.0001	0	0.0085	0.0005	0.0015	0.0118	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	9.63e-05	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.001	0.78490	D	0.004	0.76473	D	0.882	0.54283	P	0.301	0.46205	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	1.66	0.27486	T	-5.98	0.89334	D	0.273	0.34336	-1.0295	0.20616	T	0.058	0.24204	T	9	0.004361242	0.00089	T	.	.	.	0.035	0.08770	.	.	0.595925879249	0.59271	0.21012800093907438	0.20928	0.374927165601	0.38949	0.334838867188	0.15664	T	0.160996	0.50507	T	-0.564498	0.00238	T	-0.572607	0.15212	T	0.0931095369972305	0.11582	T	0.49655	0.15423	T	0.286598	0.51674	0.20106022	0.44068	0.286598	0.51674	0.20106022	0.44067	-5.413	0.41044	T	.	.	0.387	0.58837	A	.;.;.	.;.;.	1.855034	0.23566	16.07	0.99522749598536786	0.69346	0.00524	0.02436	N	AEFBI	0.063848	0.12364	N	-0.680622098261086	0.16575	0.8456621	-0.895101077511471	0.12210	0.6267108	0.0149226054994261	0.12654	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-1.06	0.09491	-0.071000	0.11465	-1.692000	0.04905	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6437:0.3563:0.0:0.0	8.339	0.31396	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.006793	0.014620	0.000000	0.008621	0.015244	0.003788	0.02632	5187.33	34	chr19	46160730	.	C	T	5187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=926;ExcessHet=0;FS=0.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.14;ReadPosRankSum=0.827;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1145:.	18	0	1	0
chr19	46230490	46230490	G	T	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.G296T:p.R99L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000234440886169	0.0013	0.000599042	0.0004	0.0042	0.0002	0	0	1.502e-05	0	6.058e-05	0.0003105	48	154602	rs201091324	0.0001	0.0001	0.0001	9.765e-05	0.0036	0.0001	9.768e-05	0.0031	0.0029	0.0036	6.708e-05	0	0	0	0.0003	5.396e-06	0.0006	8.115e-05	0.0011	0.0011	0.0011	0.0010	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	0.0002	0	0	0	0	1.47e-05	0.0005	0	0.627	0.05198	T	0.092	0.39954	T	0.0	0.02946	B	0.0	0.01387	B	0.375121	0.04386	N	1.576670	1	0.08975	N	-0.69	0.01958	N	1.85	0.24472	T	-0.17	0.09627	N	0.127	0.12055	-1.0434	0.16294	T	0.020	0.08546	T	10	0.003934264	0.00075	T	2.34E-4	0.00007	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.271916153789735	0.27104	0.0930429188605	0.10513	0.299304872751	0.10297	T	0.002174	0.01575	T	-0.690249	0.00042	T	-0.764552	0.02952	T	0.0102405668706136	0.00139	T	0.223978	0.02912	T	0.03826007	0.05063	0.040347856	0.04339	0.03826007	0.05063	0.040347856	0.04339	-2.759	0.07812	T	.	.	0.076	0.05800	B	.	.	-2.347474	0.00046	0.001	0.4528290730427772	0.03543	0.00032	0.00291	N	AEFDBI	.	.	.	-2.5681704222279	0.00011	0.0004796399	-2.63889910930559	0.00011	0.0004869003	0.999999992265923	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.61	-5.21	0.02600	-4.793000	0.00215	-8.414000	0.00974	-1.315000	0.01231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4038:0.1521:0.2025:0.2416	0.581	0.00665	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1910.33	33	chr19	46230490	.	G	T	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=805;ExcessHet=0;FS=2.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.12;SOR=0.52	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1924,0,1568	18	0	1	0
chr19	46347140	46347140	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C44G:p.P15R,PPP5C:NM_006247:exon1:c.C44G:p.P15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0246934212874	.	.	1.529e-05	0	0	0	0	0	0	8.996e-05	6.5e-06	1	154602	rs781518780	1.101e-05	1.094e-05	1.094e-05	1.108e-05	2.359e-05	6.52e-06	5.28e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.083e-05	3.334e-05	2.359e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.319	0.19188	T	0.026	0.19406	B	0.002	0.06944	B	0.795638	0.09363	U	0.866069	0.582391	0.81001	D	1.355	0.33814	L	3.56	0.04696	T	-0.65	0.18877	N	0.204	0.22614	-0.9343	0.43500	T	0.009	0.03315	T	10	0.1773321	0.32763	T	0.024693	0.47677	T	0.057	0.16321	0.278	0.23164	0.23798241625	0.23396	0.36878477754257155	0.36792	0.734854661864	0.62927	0.665435135365	0.62186	T	0.366627	0.73184	T	-0.250303	0.14059	T	-0.492034	0.23177	T	0.210142329335213	0.20961	T	0.556144	0.19298	T	0.07823419	0.17803	0.12434414	0.29972	0.07823419	0.17803	0.12434414	0.29971	-3.982	0.23533	T	.	.	0.071	0.03698	B	.	.	3.480694	0.48608	22.6	0.933825776721809	0.23133	0.87741	0.47384	D	AEFGBHCIJ	0.313501	0.41863	N	-0.633145689422323	0.17954	0.9283253	-0.489261716367701	0.22449	1.219351	0.999999999695259	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	2.25	0.27340	1.340000	0.33501	5.902000	0.50901	-0.177000	0.10537	0.997000	0.40164	1.000000	0.68203	0.712000	0.34516	0.0:0.7999:0.2001:0.0	10.489	0.43928	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	668.33	33	chr19	46347140	.	C	G	668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=728;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.31;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1263	18	0	1	0
chr19	46411857	46411857	A	C	exonic	CCDC8	.	nonsynonymous SNV	CCDC8:NM_032040:exon1:c.T954G:p.N318K	3-M syndrome 3, Autosomal recessive	2	1482	37	1	0	39	0.012987	.	.	.	364124	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00227337382301	0.0062	0.00339457	0.0050	0.0010	0.0090	0	0.0003	0.0062	0.0088	0.0042	0.0050064	774	154602	rs143086771	0.0063	0.0063	0.0062	0.0063	0.0160	0.0062	0.0061	0.0133	0.0123	0.0010	0.0069	0.0109	2.519e-05	0.0006	0.0160	0.0068	0.0079	0.0043	0.0044	0.0044	0.0043	0.0045	0.0090	0.0041	0.0040	0.0078	0.0073	0.0012	0	0.0090	0.0078	0.0002	0.0007	0.0034	0.0060	0.0081	0.0052	0.005	0.63226	D	0.797	0.04104	T	0.358	0.33818	B	0.167	0.35118	B	0.691773	0.06150	N	1.204220	1	0.08975	N	1.59	0.40313	L	2.67	0.12473	T	-0.55	0.16799	N	0.069	0.04188	-0.9934	0.31722	T	0.022	0.09284	T	10	0.0042613447	0.00085	T	0.002273	0.04342	T	0.013	0.01715	0.326	0.30873	0.227260227426	0.22338	0.09350459414103628	0.09282	0.386056920536	0.39902	0.275714993477	0.06902	T	0.003297	0.02698	T	-0.720637	0.00027	T	-0.803917	0.01806	T	0.00602089812080546	0.00066	T	0.413759	0.10783	T	0.076034315	0.17170	0.07884762	0.17697	0.070274696	0.15466	0.068793766	0.14410	-8.883	0.66940	D	.	.	0.297	0.52784	B	.;.	.;.	0.503261	0.08725	5.497	0.935398834823153	0.23366	0.09523	0.15260	N	AEFBCI	0.134815	0.25496	N	-1.15720104528236	0.05662	0.2587174	-1.34248983866452	0.03895	0.182633	0.999995758242957	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	4.22	-5.74	0.02197	-1.023000	0.03718	-5.960000	0.01539	-0.238000	0.07553	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.198:0.0:0.4523:0.3496	5.508	0.16156	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013595	0.005051	0.025815	0.002924	0.050000	0.025862	0.006098	0.003788	0.02632	2084.33	33	chr19	46411857	.	A	C	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.306;DP=835;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=2.1;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1206	18	0	1	0
chr19	46493659	46493659	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G1807A:p.A603T	.	422	1080	19	1	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00459265	0.0090	0	0.0045	0	0	0.0035	0.005	0.0207	0.0028201	436	154602	rs375877688	0.0027	0.0027	0.0022	0.0032	0.0186	0.0026	0.0026	0.0178	0.0175	0.0002	0.0011	0.0028	0	0.0001	0.0085	0.0018	0.0033	0.0186	0.0017	0.0017	0.0013	0.0020	0.0207	0.0015	0.0014	0.0174	0.0162	0.0002	0	0.0009	0.0026	0.0002	9.414e-05	0.0205	0.0017	0.0009	0.0207	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.01	0.21291	T	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.00285092	0.00045	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.051661787910480456	0.05108	.	.	0.592301189899	0.51819	T	.	.	.	-0.641604	0.00082	T	-0.679459	0.07016	T	.	.	.	0.340966	0.07383	T	0.02202339	0.00839	0.07431563	0.16243	0.02202339	0.00838	0.07431563	0.16243	-4.393	0.29462	T	.	.	0.097	0.15832	B	.	.	1.204061	0.15965	12.23	0.73959893321016346	0.10518	0.05151	0.10964	N	AEFDBCI	0.044160	0.07072	N	.	.	.	.	.	.	0.989751113103274	0.31925	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	1.99	0.886	0.18329	-0.507000	0.06434	0.319000	0.17164	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6824:0.3176:0.0	6.247	0.20030	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007748	0.000000	0.008197	0.003185	0.000000	0.000000	0.022013	0.011364	0.02632	815.33	40	chr19	46493659	.	C	T	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.484;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr19	46493952	46493952	T	G	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.A1514C:p.E505A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0222524814107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.07220	T	0.273	0.31830	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	1.99	0.21666	T	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.050326675	0.04748	T	0.022252	0.45119	T	.	.	.	.	0.146414634003	0.14194	0.1364049607342363	0.13564	.	.	0.319709330797	0.13377	T	.	.	.	-0.328183	0.06249	T	-0.709188	0.05337	T	.	.	.	0.339966	0.07337	T	0.08147669	0.18724	0.11003444	0.26527	0.08147669	0.18723	0.11003444	0.26526	-5.493	0.41803	T	.	.	0.113	0.22391	B	.	.	0.591532	0.09598	6.374	0.84512789983387004	0.15335	0.00943	0.03638	N	AEFBCI	0.029413	0.02771	N	.	.	.	.	.	.	0.926952740419216	0.26870	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.808	0.17861	-2.278000	0.01241	-0.100000	0.11953	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.2084:0.0:0.7916	3.652	0.07744	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1439.33	37	chr19	46493952	.	T	G	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.063;DP=925;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.265;SOR=0.769	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,110,1601	18	0	1	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1701.33	37	chr19	46493986	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=944;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.668;SOR=0.671	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,110,1601	18	0	1	0
chr19	46624182	46624182	A	G	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.T44C:p.V15A	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0020	0.00219649	0.0151	0.0028	0	0.0087	0.1	0.0099	0	0.0256	0.0022833	353	154602	rs200213497	0.0064	0.0062	0.0062	0.0067	0.0117	0.0063	0.0063	0.0111	0.0108	0.0007	0.0012	0.0009	0.0001	0.0040	0.0025	0.0069	0.0048	0.0117	0.0042	0.0042	0.0045	0.0040	0.0116	0.0040	0.0039	0.0092	0.0083	0.0014	0	0.0014	0.0017	0.0006	0.0022	0	0.0069	0.0033	0.0116	0.746	0.03631	T	1.0	0.01155	T	0.176	0.28893	B	0.041	0.23986	B	0.000349	0.45440	D	0.139105	1	0.08975	N	0.2	0.09183	N	3.05	0.08721	T	0.5	0.02945	N	0.161	0.16864	-0.9488	0.41177	T	0.012	0.04558	T	10	0.0036742091	0.00067	T	.	.	.	0.083	0.24192	.	.	0.286848849266	0.28300	0.2825736262160615	0.28170	0.209316482217	0.23399	0.664229989052	0.62014	T	0.153645	0.49458	T	-0.547137	0.00304	T	-0.547024	0.17612	T	0.0041909399493735	0.00045	T	0.524848	0.17228	T	0.05219638	0.09698	0.066777565	0.13724	0.05219638	0.09698	0.066777565	0.13724	-0.871	0.00867	T	.	.	0.078	0.11317	B	.;.	.;.	1.641539	0.20951	14.98	0.8406781971316204	0.15078	0.11004	0.16342	N	AEFDGBCI	.	.	.	-0.535002104525339	0.20955	1.108606	-0.412098750142697	0.24642	1.35055	0.999988408478833	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.57	3.5	0.39181	0.621000	0.24112	6.407000	0.55588	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.982000	0.59238	0.6766:0.3234:0.0:0.0	8.342	0.31413	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004242	0.000000	0.005571	0.009375	0.000000	0.018519	0.006803	0.003906	0.02632	366.33	39	chr19	46624182	.	A	G	366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=647;ExcessHet=0;FS=3.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.66;SOR=0.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1482:.	18	0	1	0
chr19	46755970	46755970	A	T	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A520T:p.S174C,FKRP:NM_024301:exon4:c.A520T:p.S174C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	102004	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B5|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_provided	MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.614	.	0.0006	0.00579073	0.0118	0.0027	0	0	0	0.0058	0	0.0161	0.002044	316	154602	rs200990647	0.0023	0.0023	0.0020	0.0027	0.0144	0.0022	0.0022	0.0138	0.0135	0.0002	0.0006	0.0010	0.0011	0.0002	0.0007	0.0017	0.0026	0.0144	0.0015	0.0015	0.0013	0.0017	0.0190	0.0014	0.0013	0.0159	0.0147	0.0004	0	0.0008	0.0012	0.0021	0.0002	0	0.0014	0	0.0190	0.02	0.49613	D	0.005	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.000094	0.51296	D	0.170964	0.902163	0.36198	D	0.345	0.11182	N	-6.08	0.99517	D	-2.6	0.55983	D	0.491	0.74280	0.786	0.94236	D	0.895	0.96512	D	10	0.009832382	0.00221	T	.	.	.	0.614	0.84932	.	.	0.839388427273	0.83785	0.7137535700374018	0.71318	1.29733811053	0.82933	0.929733991623	0.98973	D	0.527196	0.83572	D	-0.0854319	0.38827	T	0.116183	0.77981	D	0.0284877121389715	0.01759	T	0.807619	0.45757	T	0.49096623	0.66561	0.2004119	0.43971	0.559256	0.70470	0.28949234	0.54969	-6.403	0.49533	T	0.446524041138075	0.53109	0.675	0.72091	P	.;.;.	.;.;.	3.434349	0.47750	22.5	0.98427601384636587	0.41354	0.88752	0.48831	D	AEFDBI	0.400106	0.47512	N	-0.434184271767077	0.24279	1.309852	-0.308591873975597	0.27819	1.54648	0.998100821236895	0.36433	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.669	0.65921	0	.	.	4.55	3.52	0.39415	1.737000	0.37821	8.870000	0.78330	0.658000	0.54486	0.962000	0.33725	1.000000	0.68203	0.617000	0.31819	0.6732:0.0:0.0:0.3268	8.011	0.29516	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001556	0.000000	0.001374	0.000000	0.000000	0.000000	0.003205	0.003906	0.02632	1485.33	43	chr19	46755970	.	A	T	1485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.668;DP=858;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.367;SOR=0.849	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,113,1685	18	0	1	0
chr19	46782449	46782449	T	A	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.A152T:p.E51V,SLC1A5:NM_001145144:exon4:c.A74T:p.E25V,SLC1A5:NM_005628:exon4:c.A758T:p.E253V	.	426	1091	5	0	0	5	0.00228624	.	.	.	3198676	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.248	0.0337837643161	.	0.000399361	0.0023	0.0002	0.0013	0	0.0017	0.0035	0.0011	0.0013	0.0019663	304	154602	rs142211617	0.0018	0.0018	0.0018	0.0018	0.0019	0.0018	0.0017	0.0018	0.0018	0.0005	0.0011	0.0070	0	0.0016	0.0007	0.0019	0.0014	0.0013	0.0012	0.0012	0.0013	0.0011	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0007	0.0067	0	0.0010	0	0.0018	0	0.0004	0.181	0.23450	T	0.115	0.92824	T	0.149	0.27956	B	0.201	0.36881	B	0.001840	0.37892	N	0.264365	0.616571	0.37215	D	2.65	0.77586	M	0.09	0.61443	T	-3.95	0.74051	D	0.66	0.66959	-0.6410	0.63103	T	0.239	0.60619	T	10	0.013037682	0.00278	T	0.033784	0.55227	D	0.248	0.55615	.	.	0.709311354157	0.70677	0.8254172148341693	0.82499	1.15814888507	0.79400	0.512198209763	0.40529	T	0.406343	0.76227	T	-0.334606	0.05770	T	-0.258342	0.48990	T	0.0409493443175332	0.03863	T	0.884012	0.62800	D	0.31626636	0.54323	0.1384585	0.33066	0.31626636	0.54323	0.1384585	0.33065	-4.693	0.42324	T	.	.	0.187	0.48293	B	.;.;.;.;.	.;.;.;.;.	4.316009	0.66020	24.9	0.98314913955808259	0.40183	0.96160	0.67808	D	AEFDBHCI	0.873947	0.79657	D	0.109869765696868	0.46922	2.925308	0.212743235443459	0.50553	3.246218	0.999999999897047	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.987000	0.63585	7.797000	0.69042	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	14.145	0.64881	917	0.20147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2828.33	33	chr19	46782449	.	T	A	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.279;DP=794;ExcessHet=0;FS=4.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.69;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	18	0	1	0
chr19	46782450	46782450	C	T	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.G151A:p.E51K,SLC1A5:NM_001145144:exon4:c.G73A:p.E25K,SLC1A5:NM_005628:exon4:c.G757A:p.E253K	.	425	1085	12	0	0	12	0.00549954	.	.	.	3198574	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.182	0.0219815469352	7.7e-05	0.000798722	0.0027	0.0002	0.0013	0.0013	0.0030	0.0038	0.0033	0.0013	0.0023932	370	154602	rs150805394	0.0020	0.0020	0.0019	0.0020	0.0020	0.0019	0.0019	0.0019	0.0019	0.0005	0.0011	0.0071	0.0006	0.0027	0.0010	0.0020	0.0019	0.0015	0.0015	0.0015	0.0015	0.0014	0.0025	0.0013	0.0012	0.0017	0.0016	0.0003	0	0.0007	0.0069	0.0025	0.0024	0	0.0020	0.0005	0.0004	0.643	0.04957	T	0.346	0.92824	T	0.006	0.13644	B	0.03	0.21741	B	0.001840	0.37892	N	0.264365	0.690414	0.37885	D	1.54	0.38927	L	0.31	0.58613	T	-1.3	0.38345	N	0.83	0.83781	-0.8503	0.51948	T	0.162	0.49781	T	10	0.010527581	0.00234	T	0.021982	0.44819	T	0.182	0.45420	.	.	0.638579438245	0.63560	0.8263327269763245	0.82591	0.792038875628	0.65843	0.600970685482	0.53041	T	0.118436	0.43925	T	-0.329015	0.06186	T	-0.247805	0.50034	T	0.0181452035924172	0.00536	T	0.963304	0.90093	D	0.14348467	0.32975	0.1263871	0.30439	0.14348467	0.32975	0.1263871	0.30438	-4.122	0.36970	T	.	.	0.180	0.45690	B	.;.;.;.;.	.;.;.;.;.	4.033797	0.59668	24.1	0.99723245038018582	0.82195	0.97466	0.74931	D	AEFDBHCI	0.955204	0.97287	D	-0.0581813718181673	0.39238	2.31067	0.0718273968829215	0.43138	2.621861	0.999999999997895	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.12	0.47504	6.150000	0.71577	5.883000	0.50667	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.8538:0.1462:0.0	14.721	0.68917	917	0.20147	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2828.33	33	chr19	46782450	.	C	T	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.552;DP=795;ExcessHet=0;FS=4.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.77;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	18	0	1	0
chr19	47067218	47067218	G	A	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon15:c.C3050T:p.T1017M	.	419	1099	3	1	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0150332512339	.	.	4.607e-05	0	0	0.0001	0	3.352e-05	0	0.0001	3.23e-05	5	154602	rs755402752	2.61e-05	2.736e-05	2.049e-05	3.176e-05	0.0001	1.94e-05	1.699e-05	7.151e-05	5.502e-05	0	0	0	5.056e-05	0	0	2.073e-05	3.329e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.546e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.546e-05	0	0	0	0	2.941e-05	0	0	0.145	0.25154	T	0.274	0.22084	T	0.999	0.77913	D	0.713	0.54588	P	0.295781	0.14687	N	0.654013	1	0.08975	N	0	0.06538	N	2.26	0.17596	T	-0.38	0.13418	N	0.083	0.05929	-1.0400	0.17313	T	0.040	0.17319	T	10	0.114064276	0.21449	T	0.015033	0.35522	T	0.137	0.36984	0.166	0.07071	0.110392049598	0.10638	.	.	0.113350433005	0.12795	0.523786783218	0.42159	T	0.072682	0.34514	T	-0.531847	0.00375	T	-0.722303	0.04685	T	0.146383747458458	0.16812	T	0.846115	0.52582	T	0.034940932	0.04019	0.042472348	0.05065	0.034940932	0.04019	0.042472348	0.05065	-4.956	0.36358	T	.	.	0.096	0.15296	B	.	.	3.083320	0.41486	21.4	0.99255030378140119	0.57022	0.59864	0.31033	D	AEFDBI	0.205614	0.33195	N	-0.0769176123477159	0.38405	2.248942	-0.140012682541645	0.33795	1.936961	0.36230077976123	0.19789	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	2.602000	0.45921	11.672000	0.94114	0.676000	0.76740	0.069000	0.22043	1.000000	0.68203	0.005000	0.06747	0.0:0.15:0.85:0.0	14.279	0.65749	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	37	chr19	47067218	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=721;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.099;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1091	18	0	1	0
chr19	47072577	47072577	G	A	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon12:c.C1577T:p.P526L	.	.	.	.	.	.	.	.	.	.	.	3353292	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	.	.	0.000199681	0.0008	0	0	0	0	0.0014	0.0101	0.0003	0.0002199	34	154602	rs551623720	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	8.098e-05	6.042e-05	0.0001	0.0085	2.571e-05	0	0.0002	5.276e-05	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	7.324e-05	3.041e-05	0	0	0	0.0069	0	0	0	5.892e-05	0.0005	0.0004	0.008	0.58626	D	0.003	0.76473	D	0.778	0.44187	P	0.186	0.36104	B	.	.	.	.	0.999699	0.48338	D	2.34	0.67151	M	2.24	0.17923	T	-2.86	0.60188	D	0.261	0.29544	-1.0959	0.04625	T	0.038	0.16591	T	9	0.0055454075	0.00122	T	.	.	.	0.064	0.18567	.	.	0.043077524339	0.03247	.	.	0.447694606286	0.44630	0.767300009727	0.77020	T	0.492932	0.81669	T	-0.3042	0.08269	T	-0.405439	0.32752	T	0.0666461533822215	0.08172	T	0.746125	0.36682	T	0.110795096	0.26186	0.14705734	0.34816	0.110795096	0.26185	0.14705734	0.34815	-6.877	0.53129	T	.	.	0.134	0.29032	B	.	.	3.705541	0.52874	23.3	0.76039780337464047	0.11309	0.72896	0.35666	D	AEFBI	0.160497	0.28644	N	0.0499113984823548	0.44138	2.693393	0.0571498214903608	0.42417	2.565331	0.994194827779315	0.33529	0.751926	0.98777	0	0.639134	0.57113	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.69	4.69	0.58546	3.900000	0.56008	10.999000	0.84752	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:0.0:1.0:0.0	16.445	0.83766	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002599	0.000000	0.001359	0.006897	0.000000	0.000000	0.000000	0.003817	0.02632	297.33	19	chr19	47072577	.	G	A	297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.114;SOR=1.329	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,550	18	0	1	0
chr19	47085180	47085180	C	T	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon8:c.G983A:p.R328H	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0152485102701	.	.	2.487e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs751592238	5.473e-06	5.472e-06	2.723e-06	8.251e-06	8.945e-05	2.35e-06	1.7e-06	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	2.698e-06	0	1.159e-05	6.592e-06	6.574e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.098	0.30800	T	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.046914	0.23394	N	0.461649	1	0.81001	D	1.04	0.26193	L	1.9	0.23486	T	-2.58	0.55662	D	0.504	0.53620	-0.9591	0.39349	T	0.163	0.49930	T	10	0.3349051	0.50656	T	0.015249	0.35873	T	0.247	0.55478	.	.	0.143184338766	0.13958	.	.	0.547303286906	0.51699	0.657775223255	0.61091	T	0.302134	0.67455	T	-0.225674	0.17225	T	-0.33624	0.40771	T	0.649811029434204	0.38454	D	0.905909	0.66829	D	0.15704663	0.35409	0.086095914	0.19924	0.15704663	0.35408	0.086095914	0.19924	-10.074	0.74354	D	.	.	0.650	0.70913	P	.	.	4.597962	0.72796	25.9	0.99860802385827374	0.93911	0.99632	0.98173	D	AEFBI	0.663742	0.63315	D	0.772408896683783	0.84354	8.264512	0.774047268991161	0.87938	9.39817	0.999926506165306	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.97	5.97	0.96935	6.355000	0.72985	7.636000	0.62963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	19.206	0.93714	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1249.33	33	chr19	47085180	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.033;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	0	1	0
chr19	47086398	47086398	C	G	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon6:c.G856C:p.E286Q	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00939684924632	0.0005	.	0.0007	0.0002	0.0003	0	0.0020	0.0008	0.0034	0.0003	0.0006339	98	154602	rs201516068	0.0007	0.0007	0.0006	0.0007	0.0031	0.0007	0.0006	0.0020	0.0017	0.0003	0.0006	3.828e-05	2.521e-05	0.0013	0.0031	0.0007	0.0008	0.0003	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0005	0.0007	0.0006	9.626e-05	0	0.0007	0	0	0.0014	0.0102	0.0009	0.0028	0	0.147	0.24955	T	0.263	0.22828	T	0.36	0.33860	B	0.285	0.40506	B	0.094364	0.20176	N	0.412177	0.898145	0.36107	D	0.55	0.14455	N	2.13	0.19588	T	-0.96	0.25551	N	0.363	0.40465	-1.0494	0.14565	T	0.054	0.22808	T	10	0.017079026	0.00363	T	0.009397	0.24646	T	0.046	0.12618	.	.	0.110392049598	0.10638	.	.	1.1745074142	0.79847	0.437089323997	0.30180	T	0.094125	0.39353	T	-0.483639	0.00705	T	-0.541604	0.18139	T	0.0193574598861751	0.00640	T	0.827917	0.49191	T	0.10752565	0.25426	0.067954175	0.14126	0.10752565	0.25426	0.067954175	0.14125	-5.9	0.45435	T	.	.	0.185	0.40081	B	.	.	4.149601	0.62235	24.4	0.99146569267095708	0.53682	0.96402	0.68962	D	AEFDBI	0.509862	0.53915	D	0.0488738469212762	0.44090	2.68952	0.141941464343052	0.46718	2.913165	0.999629423909593	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	4.772000	0.62019	7.569000	0.60664	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.701	0.88200	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	710.33	34	chr19	47086398	.	C	G	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.938;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr19	47089996	47089996	C	T	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon5:c.G686A:p.R229H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0292380860074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.565e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.002	0.72154	D	0.243	0.24193	T	0.998	0.73220	D	0.759	0.56370	P	0.011721	0.29430	N	0.137128	0.999185	0.46274	D	0.805	0.20218	L	2.16	0.19166	T	-1.63	0.39119	N	0.556	0.58117	-1.1667	0.00606	T	0.073	0.29707	T	10	0.39832202	0.55387	T	0.029238	0.51783	D	0.174	0.44019	0.16	0.06396	0.0934897674506	0.08844	.	.	1.45200276733	0.86181	0.638032913208	0.58284	T	0.271386	0.64371	T	-0.0741843	0.40657	T	-0.344337	0.39853	T	0.758820198740108	0.43783	D	0.914708	0.69569	D	0.08113827	0.18629	0.08643803	0.20025	0.08113827	0.18629	0.08643803	0.20024	-11.197	0.80727	D	.	.	0.338	0.55740	B	.	.	4.464167	0.69511	25.4	0.99831936478257255	0.91370	0.92350	0.55509	D	AEFDBI	0.432160	0.49415	N	0.43287999427197	0.63240	4.55387	0.454634677978484	0.65017	4.770569	0.99999746266868	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.345000	0.65756	3.249000	0.37015	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.639000	0.32395	0.0:1.0:0.0:0.0	18.697	0.91565	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	183.33	45	chr19	47089996	.	C	T	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=765;ExcessHet=0;FS=39.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=1.09;SOR=5.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	18	0	1	0
chr19	47270570	47270570	C	T	exonic	CCDC9	.	nonsynonymous SNV	CCDC9:NM_015603:exon10:c.C967T:p.R323W	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0431289637793	.	.	9.099e-05	0	0.0003	0	0	9.024e-05	0	6.058e-05	7.12e-05	11	154602	rs200778283	5.268e-05	5.336e-05	5.173e-05	5.363e-05	0.0007	4.278e-05	3.953e-05	0.0002	0.0001	0	0.0002	3.826e-05	7.557e-05	0	0.0007	5.036e-05	3.313e-05	3.478e-05	2.628e-05	2.626e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.541e-05	0	0.0002	0	0	1.47e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.075495	0.21220	N	0.424382	0.987108	0.40536	D	2.045	0.56016	M	0.71	0.51228	T	-3.53	0.68532	D	0.544	0.57092	-0.6258	0.63747	T	0.250	0.61912	T	10	0.24051905	0.41212	T	0.043129	0.60822	D	0.178	0.44724	.	.	0.704964797884	0.70240	0.2711966310100616	0.27032	0.524550738601	0.50135	0.610900640488	0.54443	T	0.04276	0.26287	T	-0.218407	0.18211	T	-0.258016	0.49022	T	0.504126251296696	0.32780	D	0.914509	0.69499	D	0.22791137	0.45500	0.21240641	0.45708	0.22791137	0.45500	0.21240641	0.45708	-10.346	0.75957	D	.	.	0.181	0.42877	B	.;.	.;.	4.889176	0.80252	27.3	0.99536470356945028	0.70212	0.91212	0.53080	D	AEFDBI	0.422234	0.48832	N	0.473304137542341	0.65537	4.834948	0.408451683913313	0.62091	4.418795	0.113600431056474	0.16712	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.58	3.51	0.39297	3.730000	0.54731	5.108000	0.47491	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1877:0.8123:0.0:0.0	10.961	0.46598	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	797.33	33	chr19	47270570	.	C	T	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=774;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.604;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	18	0	1	0
chr19	47538258	47538258	G	C	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon9:c.C2978G:p.P993R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0186383257144	.	0.00139776	0.0024	0	0	0	0	0	0.0053	0.0061	0.0003493	54	154602	rs570301192	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	3.165e-05	0	0	0	0	0	6.488e-06	0.0005	0.0054	0.0002	0.0002	0.0002	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	5.881e-05	0	0.0052	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.014161	0.28613	N	0.250413	0.974298	0.81001	D	.	.	.	1.95	0.24472	T	-8.51	0.97315	D	0.536	0.56403	-0.9318	0.43874	T	0.130	0.43968	T	10	0.008809686	0.00200	T	0.018638	0.40769	T	0.341	0.66297	.	.	0.359151904892	0.35523	0.6260393653833596	0.62536	.	.	0.641952514648	0.58842	T	0.098929	0.40324	T	-0.292954	0.09341	T	-0.193043	0.55304	T	0.272660439958809	0.23861	T	0.941106	0.79443	D	0.5872424	0.72002	0.7489079	0.85158	0.5872424	0.72003	0.7489079	0.85159	-12.679	0.87997	D	.	.	0.352	0.56690	A	.;.	.;.	4.268868	0.64932	24.8	0.99850615889516114	0.93013	0.96940	0.71775	D	AEFDBI	0.811897	0.73476	D	0.714875503603125	0.80608	7.331933	0.694648232823937	0.81970	7.653263	0.998939973206353	0.38009	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	7.653000	0.82698	8.615000	0.77786	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.278	0.73456	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	33	chr19	47538258	.	G	C	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=712;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.568;SOR=0.511	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	47544976	47544976	T	G	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon5:c.A1553C:p.E518A	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0193531403373	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265809200	7.975e-06	7.524e-06	4.293e-06	1.176e-05	0.0004	4.28e-06	3.13e-06	6.212e-05	2.566e-05	0	0	0	0	0	0.0004	1.857e-06	5.203e-05	5.069e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.279	0.21745	T	0.057	0.22878	B	0.025	0.20508	B	.	.	.	.	0.999999	0.08975	N	1.995	0.54099	M	1.81	0.26301	T	-1.5	0.37375	N	0.136	0.15469	-1.0341	0.19141	T	0.082	0.32148	T	9	0.17844114	0.32929	T	0.019353	0.41689	T	0.052	0.14661	0.131	0.03577	0.353974658523	0.35008	0.11465781196495228	0.11393	.	.	0.432195425034	0.29508	T	0.006699	0.06126	T	-0.284107	0.10238	T	-0.515426	0.20759	T	0.417541742324829	0.29600	T	0.758124	0.38180	T	0.09467604	0.22265	0.1939742	0.42995	0.09467604	0.22265	0.1939742	0.42994	-2.343	0.04795	T	.	.	0.127	0.35204	B	.;.	.;.	2.431705	0.31284	18.69	0.98650011220167377	0.44178	0.66861	0.33226	D	AEFDBI	0.106653	0.21274	N	-0.103884494866641	0.37223	2.162555	-0.0915581611868026	0.35738	2.071178	0.0598962682103338	0.15178	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	3.004000	0.49200	4.642000	0.44159	0.665000	0.62972	0.692000	0.28550	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.1864:0.8136	9.004	0.35264	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	854.33	34	chr19	47544976	.	T	G	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.945;SOR=0.793	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr19	47545139	47545139	G	A	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon5:c.C1390T:p.P464S	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00321500355367	.	0.000798722	0.0044	0	0	0	0	0.0021	0	0.0076	0.0003881	60	154602	rs571605029	0.0013	0.0012	0.0012	0.0013	0.0027	0.0012	0.0012	0.0023	0.0022	0.0002	0.0014	0.0002	0	0.0003	0.0021	0.0013	0.0011	0.0027	0.0014	0.0014	0.0013	0.0014	0.0044	0.0012	0.0012	0.0036	0.0033	0.0004	0	0.0044	0	0	9.414e-05	0	0.0016	0.0014	0.0019	1.0	0.00964	T	0.938	0.02750	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.6	0.02229	N	2.69	0.12884	T	-0.15	0.09297	N	0.045	0.01740	-1.0008	0.29688	T	0.011	0.03949	T	9	0.0046203732	0.00096	T	0.003215	0.07057	T	0.027	0.05988	.	.	0.0666544352282	0.05500	0.019312484960308986	0.01885	.	.	0.366885960102	0.20383	T	0.001371	0.00840	T	-0.6499	0.00073	T	-0.71217	0.05185	T	0.00809328723972908	0.00096	T	0.348165	0.07698	T	0.019697128	0.00506	0.05694827	0.10265	0.019697128	0.00506	0.05694827	0.10264	-3.809	0.20939	T	.	.	0.075	0.05711	B	.;.	.;.	-2.101288	0.00080	0.001	0.561460369314014	0.05490	0.01159	0.04181	N	AEFDBI	0.030547	0.03097	N	-1.95960803750434	0.00258	0.01106537	-2.04369255307953	0.00247	0.01089332	0.999999949713857	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.52	-11.0	0.00133	-3.250000	0.00597	-3.728000	0.02577	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0929:0.2415:0.5059:0.1596	7.122	0.24626	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	37	chr19	47545139	.	G	A	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=636;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.881;SOR=0.404	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,872	18	0	1	0
chr19	47694436	47694436	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon8:c.C2605T:p.P869S	.	.	.	.	.	.	.	.	.	.	.	4101101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00199681	0.0012	0.0131	0.0042	0	0	7.201e-05	0	0	0.000401	62	154602	rs199790810	0.0001	0.0001	0.0002	0.0001	0.0037	0.0001	0.0001	0.0031	0.0028	0.0037	0.0005	0	0	0	0	1.182e-05	0.0004	0	0.0011	0.0017	0.0012	0.0011	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	1.492e-05	0.0005	0	0.157	0.23997	T	0.445	0.13140	T	0.903	0.49795	P	0.767	0.56720	P	.	.	.	.	0.774118	0.34186	D	.	.	.	1.53	0.30401	T	0.31	0.04022	N	0.249	0.28146	-0.9442	0.41944	T	0.072	0.29098	T	9	0.0059598684	0.00134	T	.	.	.	0.085	0.24743	.	.	0.043077524339	0.03247	0.31763981655549905	0.31676	0.184738878401	0.20772	0.817092418671	0.84582	D	0.007821	0.07202	T	-0.583044	0.00185	T	-0.607667	0.12175	T	0.0423187215126844	0.04114	T	0.525947	0.17303	T	0.055391885	0.10758	0.07842003	0.17563	0.055391885	0.10758	0.07842003	0.17563	-4.815	0.34766	T	.	.	0.082	0.08851	B	.;.	.;.	1.119079	0.15045	11.54	0.94772986793026903	0.25495	0.17741	0.19967	N	AEFDBI	0.228734	0.35236	N	-0.152520354944295	0.35127	2.013766	-0.23117433914055	0.30426	1.712982	0.999666563614328	0.41534	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.3	2.3	0.27735	0.753000	0.26042	1.363000	0.25896	0.460000	0.21577	0.001000	0.13787	0.010000	0.20010	0.248000	0.23210	0.0:1.0:0.0:0.0	12.127	0.53227	694	0.58444	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1065.33	35	chr19	47694436	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=788;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.749;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,927	18	0	1	0
chr19	47751077	47751077	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon4:c.C568T:p.R190W	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.270329695116	0.0012	0.00119808	0.0026	0.0004	0.0041	0.0002	0.0004	0.0028	0.0019	0.0043	0.0016365	253	154602	rs34462252	0.0013	0.0013	0.0012	0.0015	0.0111	0.0013	0.0013	0.0089	0.0081	0.0004	0.0015	0.0024	2.527e-05	0.0001	0.0111	0.0011	0.0022	0.0039	0.0016	0.0016	0.0015	0.0017	0.0043	0.0015	0.0014	0.0029	0.0026	0.0005	0	0.0037	0.0037	0	9.416e-05	0.0068	0.0018	0.0052	0.0043	0.005	0.63226	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.39	0.68181	T	-3.56	0.68880	D	0.55	0.57604	-0.7059	0.60154	T	0.205	0.56321	T	10	0.017251283	0.00367	T	0.27033	0.89854	D	0.298	0.61843	.	.	0.893969425137	0.89292	0.4509957738623177	0.45017	0.273752085707	0.29871	0.47730717063	0.35686	T	0.13954	0.47362	T	-0.194898	0.21542	T	-0.056098	0.66603	D	0.0466788899782708	0.04907	T	0.828317	0.49240	T	0.2381095	0.46684	0.1718723	0.39401	0.2381095	0.46684	0.1718723	0.39400	-9.488	0.70784	D	.	.	0.105	0.26042	B	.;.	.;.	3.969294	0.58269	24.0	0.99910210986413062	0.97949	0.81910	0.41222	D	AEFDBCI	0.807345	0.73141	D	0.379690706283774	0.60323	4.21994	0.245008969649027	0.52365	3.412	0.404079951112443	0.20155	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	3.25	0.36363	0.722000	0.25595	0.735000	0.21116	0.599000	0.40250	0.901000	0.31451	0.837000	0.27266	0.623000	0.31974	0.2205:0.7795:0.0:0.0	9.004	0.35264	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.009537	0.011765	0.150000	0.000000	0.003067	0.007576	0.02632	838.33	34	chr19	47751077	.	C	T	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.503;DP=699;ExcessHet=0;FS=4.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.752;SOR=0.321	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr19	47754612	47754612	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon7:c.C851T:p.T284M	.	442	1024	49	7	0	63	0.0298437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0048	0.00279553	0.0136	0.0016	0.0076	0	0	0.0152	0.0192	0.0152	0.0034217	529	154602	rs200463741	0.0066	0.0065	0.0063	0.0069	0.0262	0.0065	0.0064	0.0222	0.0207	0.0011	0.0041	0.0135	2.791e-05	0.0013	0.0262	0.0065	0.0078	0.0135	0.0047	0.0048	0.0048	0.0046	0.0126	0.0044	0.0043	0.0101	0.0092	0.0007	0	0.0045	0.0121	0.0002	0.0008	0.0238	0.0071	0.0090	0.0126	0.108	0.29420	T	0.025	0.56192	D	0.927	0.51527	P	0.498	0.47596	P	0.168490	0.03092	N	1.781030	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.21	0.10308	N	0.163	0.17140	-1.0168	0.24755	T	0.073	0.29675	T	10	0.009180903	0.00207	T	.	.	.	0.041	0.10877	.	.	0.341696514166	0.33777	0.12463098791776257	0.12389	0.469969455627	0.46289	0.332075119019	0.15247	T	0.025983	0.19322	T	-0.613896	0.00120	T	-0.643564	0.09412	T	0.0283586252326964	0.01741	T	0.693531	0.30321	T	0.013671488	0.00066	0.027146567	0.00847	0.013671488	0.00066	0.027146567	0.00847	-5.807	0.44635	T	.	.	0.082	0.08657	B	.	.	1.784252	0.22686	15.72	0.99572906523437688	0.72501	0.08317	0.14262	N	AEFDBHCI	0.136783	0.25756	N	-0.494089786967939	0.22273	1.188187	-0.652737263232716	0.18147	0.9681613	0.0370203101049433	0.14274	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.87	1.65	0.23015	-0.020000	0.12466	-1.828000	0.04652	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6466:0.2284:0.125	4.672	0.12077	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034557	0.024691	0.022535	0.041935	0.000000	0.028302	0.033333	0.064885	0.07895	2181.79	33	chr19	47754612	.	C	T	2181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.23;DP=765;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.083;SOR=0.697	GT:AD:DP:GQ:PL	0/1:28,23:51:99:688,0,672	16	0	3	0
chr19	47755379	47755379	G	A	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon9:c.G1085A:p.R362Q	.	373	1131	18	0	0	18	0.00789474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0008	0.00279553	0.0149	0	0.0118	0	0	0.0041	0	0.0213	0.002335	361	154602	rs200208997	0.0014	0.0015	0.0010	0.0019	0.0166	0.0014	0.0014	0.0159	0.0156	0.0002	0.0004	0.0062	0	0	0.0086	0.0003	0.0021	0.0166	0.0010	0.0010	0.0008	0.0011	0.0155	0.0008	0.0008	0.0127	0.0117	4.811e-05	0	0.0002	0.0078	0	0	0.0034	0.0005	0.0005	0.0155	0.064	0.36509	T	0.284	0.21411	T	0.039	0.21116	B	0.009	0.14300	B	0.073528	0.21340	N	0.433516	0.735077	0.29791	N	.	.	.	0.8	0.48769	T	-1.49	0.36385	N	0.17	0.18103	-0.9470	0.41481	T	0.103	0.37994	T	10	0.0057264864	0.00128	T	.	.	.	0.052	0.14661	.	.	0.484545746072	0.48084	0.15670827162418033	0.15591	0.248782627249	0.27447	0.559431135654	0.47188	T	0.044327	0.26780	T	-0.548391	0.00298	T	-0.547529	0.17563	T	0.029655768077075	0.01936	T	0.791921	0.43319	T	0.07371343	0.16491	0.085923776	0.19871	0.07371343	0.16491	0.085923776	0.19871	-1.59	0.01959	T	.	.	0.098	0.16407	B	.	.	2.942652	0.39128	20.9	0.99798281924628274	0.88372	0.57081	0.30283	D	AEFDBHCI	0.182314	0.30964	N	-0.210708735572878	0.32695	1.846585	-0.130428595551192	0.34169	1.96257	0.00191845506342294	0.09002	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.79	2.68	0.30839	2.177000	0.42138	3.819000	0.39943	0.676000	0.76740	0.026000	0.20160	1.000000	0.68203	0.132000	0.19645	0.1712:0.0:0.8288:0.0	5.826	0.17808	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006974	0.000000	0.007184	0.016129	0.000000	0.000000	0.009934	0.000000	0.02632	713.33	26	chr19	47755379	.	G	A	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=634;ExcessHet=0;FS=9.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-0.068;SOR=0.988	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,977	18	0	1	0
chr19	47780903	47780903	G	A	exonic	SELENOW	.	unknown	UNKNOWN	.	422	1099	1	0	0	1	0.000454752	.	.	.	2441929	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00886118630208	8.1e-05	.	1.756e-05	0	0	0.0001	0	0	0	6.413e-05	1.29e-05	2	154602	rs373200586	2.943e-05	3.01e-05	3.54e-05	2.339e-05	0.0002	2.217e-05	1.97e-05	2.456e-05	2.144e-05	2.987e-05	0	0	0	0	0.0002	3.328e-05	4.971e-05	1.16e-05	6.583e-06	6.568e-06	0	1.348e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	0.209	0.19710	T	0.438	0.13403	T	0.028	0.19712	B	0.024	0.20255	B	0.013926	0.28688	N	0.287341	1	0.08975	N	.	.	.	0.97	0.42502	T	-1.25	0.31576	N	0.298	0.36254	-1.0481	0.14932	T	0.060	0.25163	T	9	0.17168984	0.31901	T	0.008861	0.23366	T	0.012	0.01476	.	.	0.201204373187	0.19734	.	.	0.0959462113283	0.10830	0.588201284409	0.51240	T	0.018266	0.17341	T	-0.407374	0.02069	T	-0.653813	0.08688	T	0.716437101364136	0.41519	D	0.579642	0.20943	T	0.023131583	0.01027	0.05285986	0.08793	0.023131583	0.01026	0.05285986	0.08792	.	.	.	.	.	0.104	0.19032	B	.;.;.;.;.	.;.;.;.;.	2.756009	0.36138	20.2	0.96441092303359	0.29830	0.36510	0.25549	N	AEFDBCI	0.479256	0.52148	N	-0.556085219433941	0.20293	1.068722	-0.530092364158346	0.21337	1.153811	0.999710784091377	0.42101	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	2.03	0.25714	1.452000	0.34767	5.098000	0.47411	-0.103000	0.15852	0.706000	0.28683	1.000000	0.68203	0.023000	0.12082	0.1077:0.1904:0.7019:0.0	6.127	0.19405	906	0.23090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2564.33	44	chr19	47780903	.	G	A	2564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=975;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.552;SOR=0.577	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	47781161	47781161	G	A	exonic	SELENOW	.	unknown	UNKNOWN	.	421	1097	3	1	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0038	0.0004	0.0045	0	0.0041	0.0054	0.0067	0.0005	0.0039844	616	154602	rs191827128	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0010	0.0043	0.0054	0	0.0029	0.0055	0.0072	0.0061	0.0007	0.0046	0.0046	0.0046	0.0046	0.0067	0.0043	0.0042	0.0062	0.0060	0.0015	0.0252	0.0053	0.0058	0	0.0030	0	0.0067	0.0085	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.004076	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2955.33	44	chr19	47781161	.	G	A	2955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=953;ExcessHet=0;FS=2.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.44;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	47801819	47801819	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G1192A:p.V398M	.	150	1353	17	2	0	21	0.00770077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	7.7e-05	0.00199681	0.0013	0	0.0003	0.0001	0	0.0002	0	0.0085	0.0011319	175	154602	rs200596763	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	2.987e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0008	0.0080	0.0004	0.0004	0.0002	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0	0.0011	0.0003	0.0012	0	0	0.0068	0.0001	0.0005	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.13	0.93787	D	-0.73	0.22944	N	0.152	0.27554	-0.1956	0.77785	T	0.606	0.86026	D	9	0.0067352355	0.00153	T	.	.	.	0.232	0.53354	.	.	0.438383285633	0.43460	0.23392375633718906	0.23307	0.356072466805	0.37361	0.353152483702	0.18385	T	0.010224	0.09867	T	-0.409433	0.02005	T	-0.355631	0.38558	T	0.0942091338508487	0.11708	T	0.551245	0.19298	T	0.0836681	0.19330	0.09419711	0.22286	0.0836681	0.19329	0.09419711	0.22286	-2.25	0.04290	T	.	.	0.115	0.32445	B	.;.;.	.;.;.	1.534584	0.19684	14.39	0.9906700246732445	0.51621	0.01377	0.04694	N	AEFI	0.030052	0.02951	N	-0.598586907107626	0.18987	0.9902548	-0.800681159278093	0.14479	0.7567325	1.94653767318945E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.17	1.17	0.19998	0.305000	0.19006	-0.102000	0.11930	0.328000	0.19510	0.016000	0.19238	0.001000	0.17328	0.066000	0.16387	0.0:1.0:0.0:0.0	5.719	0.17248	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1268.33	33	chr19	47801819	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=716;ExcessHet=0;FS=4.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.703;SOR=1.189	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	0	1	0
chr19	47802959	47802964	CGCGGC	-	exonic	TPRX1	.	nonframeshift deletion	TPRX1:NM_198479:exon2:c.47_52del:p.R16_A18delinsP	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.000998403	0.0125	0.0013	0.0046	0	0.0450	0.0189	0.0197	0.0055	0.0006916	18	26028	rs554429070	0.0047	0.0048	0.0046	0.0048	0.0097	0.0046	0.0046	0.0074	0.0066	0.0006	0.0017	0.0039	0	0.0232	0.0097	0.0045	0.0047	0.0035	0.0058	0.0059	0.0049	0.0069	0.0074	0.0055	0.0054	0.0068	0.0066	0.0006	0	0.0031	0.0055	0	0.0249	0.0068	0.0074	0.0057	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2187.29	35	chr19	47802958	.	GCGCGGC	G	2187.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=806;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.2;MQRankSum=-0.957;QD=24.04;ReadPosRankSum=0.722;SOR=0.532	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1458	18	0	1	0
chr19	47839575	47839575	C	T	exonic	CRX	.	nonsynonymous SNV	CRX:NM_000554:exon4:c.C508T:p.P170S	Cone-rod retinal dystrophy-2, Autosomal dominant;Leber congenital amaurosis 7	0	1515	7	0	0	7	0.00230491	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.567625512122	.	.	0.0001	0	0	0	0	3.05e-05	0	0.0009	0.00011	17	154602	rs769984810	6.3e-05	6.293e-05	4.359e-05	8.261e-05	0.0007	5.233e-05	4.85e-05	0.0006	0.0005	0	0	0	0	0	0.0007	1.98e-05	8.291e-05	0.0007	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.055	0.38407	T	0.049	0.48336	D	0.951	0.53992	P	0.684	0.53582	P	0.000002	0.62929	N	0.060226	0.975156	0.81001	D	2.575	0.75298	M	-3.6	0.95009	D	-3.89	0.72820	D	0.194	0.25253	0.790	0.94282	D	0.837	0.94560	D	10	0.4841619	0.60608	T	0.567626	0.96078	D	0.690	0.88726	0.598	0.72862	0.886356727638	0.88523	0.7425358996408872	0.74199	0.675188037185	0.59693	0.81745582819	0.84638	D	0.786228	0.94402	D	-0.132718	0.31056	T	-0.0561528	0.66600	D	0.745528876781464	0.43038	D	0.910509	0.68253	D	0.2376331	0.46629	0.29441303	0.55472	0.2376331	0.46629	0.29441303	0.55471	-3.564	0.17338	T	0.14880573707648642	0.17353	0.096	0.15296	B	.;.	.;.	3.856314	0.55900	23.7	0.9988391209709887	0.95970	0.84094	0.43179	D	AEFDBI	0.528662	0.55010	D	0.330292681886558	0.57710	3.939355	0.229521263401756	0.51494	3.331305	0.949743023733304	0.27861	0.487112	0.14033	0	0.573888	0.26702	0	0.654281	0.52657	0	0.564101	0.26826	0	.	.	3.93	2.82	0.32061	2.210000	0.42455	5.615000	0.49067	0.537000	0.25018	0.951000	0.33123	1.000000	0.68203	0.893000	0.43066	0.0:0.815:0.185:0.0	11.300	0.48534	912	0.21483	Transcription factor Otx, C-terminal;Transcription factor Otx, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3656.81	111	chr19	47839575	.	C	T	3656.81	.	AC=2;AF=0.053;AN=38;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.94;SOR=0.995	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	18	1	0	0
chr19	48053118	48053118	C	T	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon16:c.G1489A:p.D497N,PLA2G4C:NM_001159323:exon16:c.G1459A:p.D487N,PLA2G4C:NM_003706:exon16:c.G1459A:p.D487N	.	416	1104	2	0	0	2	0.000904977	.	.	.	3460673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00349383859271	.	.	8.248e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs781443003	1.237e-05	1.3e-05	1.092e-05	1.384e-05	5.067e-05	7.73e-06	6.38e-06	8.4e-06	3.14e-06	0	0	0	5.067e-05	7.52e-05	0	7.229e-06	3.325e-05	2.328e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.08212	T	0.735	0.05184	T	0.913	0.50474	P	0.088	0.29688	B	0.237514	0.03560	U	2.659850	1	0.08975	N	1.5	0.37844	L	3.69	0.04114	T	-0.52	0.16187	N	0.089	0.07398	-0.9094	0.46928	T	0.008	0.02968	T	10	0.097449094	0.17552	T	0.003494	0.07908	T	0.071	0.20720	0.61	0.74300	0.262175524916	0.25828	0.1844401191767356	0.18363	0.176130536487	0.19829	0.490992456675	0.37576	T	4.67E-4	0.00164	T	-0.387867	0.02776	T	-0.794921	0.02032	T	0.431772798299789	0.30126	T	0.529047	0.17505	T	0.028502423	0.02197	0.022575129	0.00279	0.028502423	0.02196	0.022575129	0.00279	-2.497	0.06885	T	.	.	0.129	0.34405	B	.;.;.	.;.;.	0.537420	0.09061	5.843	0.6709047807818157	0.08251	0.00108	0.00689	N	AEFDBI	0.031566	0.03403	N	-1.16892374866956	0.05476	0.249715	-1.37045830763844	0.03570	0.166815	3.47625111412319E-5	0.03775	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	2.78	-4.75	0.03003	-0.614000	0.05699	-4.198000	0.02287	-0.446000	0.05156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3762:0.0:0.6238	7.877	0.28760	592	0.68746	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	37	chr19	48053118	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.176;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.227;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1408	18	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M,LIG1:NM_001289063:exon11:c.G952A:p.V318M,LIG1:NM_001320971:exon11:c.G955A:p.V319M,LIG1:NM_000234:exon12:c.G1045A:p.V349M,LIG1:NM_001320970:exon12:c.G1042A:p.V348M	DNA ligase I deficiency (3)	415	1099	7	1	0	9	0.00407793	.	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.012195	0.011364	0.05263	4923.83	34	chr19	48140013	.	C	T	4923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.35;DP=1141;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.742;SOR=0.771	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1243	17	0	2	0
chr19	48161460	48161460	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289063:exon3:c.C65T:p.P22L,LIG1:NM_001320971:exon3:c.C65T:p.P22L,LIG1:NM_000234:exon4:c.C155T:p.P52L,LIG1:NM_001289064:exon4:c.C155T:p.P52L,LIG1:NM_001320970:exon4:c.C155T:p.P52L	DNA ligase I deficiency (3)	404	1117	1	0	0	1	0.000447427	.	.	.	1965168	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.117974408111	.	0.000399361	9.073e-05	0	8.651e-05	0.0008	0	3.001e-05	0	6.058e-05	9.06e-05	14	154602	rs4987181	3.899e-05	3.899e-05	4.084e-05	3.713e-05	0.0010	3.047e-05	2.783e-05	0.0007	0.0006	2.987e-05	2.236e-05	0	0.0010	1.872e-05	0	7.194e-06	1.656e-05	8.115e-05	5.255e-05	5.25e-05	6.426e-05	4.03e-05	0.0014	2.556e-05	1.83e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0002	0.002	0.72154	D	0.023	0.72224	D	0.998	0.90584	D	0.689	0.88582	P	0.000020	0.62929	D	0.117813	0.99995	0.52396	D	2.3	0.65703	M	-0.64	0.72125	T	-3.68	0.71042	D	0.425	0.52208	0.003	0.82323	D	0.489	0.80560	T	10	0.069232434	0.09905	T	0.117974	0.79789	D	0.208	0.49714	.	.	0.715004031016	0.71250	0.44058597349081374	0.43975	0.971680733761	0.73388	0.657754778862	0.61088	T	0.663868	0.89945	D	-0.181514	0.23511	T	-0.135475	0.60507	T	0.373609066528827	0.27936	T	0.952205	0.81731	D	0.24693026	0.47667	0.3069095	0.56715	0.24693026	0.47667	0.3069095	0.56714	-6.431	0.50456	T	.	.	0.147	0.68172	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926506	0.81191	27.5	0.99857266505676412	0.93639	0.87424	0.46959	D	AEFDBI	0.368083	0.45531	N	0.497572307847452	0.66948	5.016739	0.464084846693237	0.65625	4.847638	0.188878324963552	0.17973	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	4.145000	0.57833	9.585000	0.81036	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	13.666	0.61869	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1383.33	39	chr19	48161460	.	G	A	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.352;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr19	48286199	48286202	AAAC	-	exonic	ZNF114	.	frameshift deletion	ZNF114:NM_001331097:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_001331098:exon6:c.713_716del:p.T239Sfs*2,ZNF114:NM_001369811:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_001369812:exon6:c.575_578del:p.T193Sfs*2,ZNF114:NM_153608:exon6:c.575_578del:p.T193Sfs*2	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs749797736	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1981.29	34	chr19	48286198	.	AAAAC	A	1981.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-2.522;SOR=0.667	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1995,0,3047	18	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N,TMEM143:NM_018273:exon4:c.G427A:p.D143N	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.015152	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	618.33	33	chr19	48345297	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=692;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.326;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	18	0	1	0
chr19	48375676	48375676	C	T	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon4:c.C395T:p.P132L	.	416	1097	9	0	0	9	0.00408534	.	.	.	2818523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0037	0.00319489	0.0062	0.0005	0.0027	0	0.0221	0.0069	0.0143	0.0062	0.0056338	871	154602	rs34058038	0.0058	0.0058	0.0057	0.0059	0.0061	0.0057	0.0057	0.0057	0.0055	0.0009	0.0021	0.0046	2.519e-05	0.0228	0.0043	0.0055	0.0054	0.0061	0.0050	0.0050	0.0038	0.0063	0.0053	0.0047	0.0046	0.0048	0.0046	0.0007	0.0318	0.0020	0.0040	0.0002	0.0261	0.0068	0.0053	0.0028	0.0041	0.197	0.20607	T	0.078	0.42261	T	0.806	0.45231	P	0.192	0.36449	B	0.102770	0.19778	N	0.565953	1	0.08975	N	1.59	0.40313	L	1.81	0.25182	T	-1.97	0.45587	N	0.285	0.33469	-1.0530	0.13574	T	0.034	0.14813	T	10	0.003685236	0.00068	T	.	.	.	0.064	0.18567	.	.	0.0611884634855	0.05136	0.39221288763361933	0.39136	0.085052402666	0.09612	0.202998846769	0.00549	T	0.004187	0.03601	T	-0.617613	0.00114	T	-0.65551	0.08573	T	0.010389981425285	0.00143	T	0.464054	0.25361	T	0.06791769	0.14750	0.061516482	0.11892	0.06791769	0.14750	0.061516482	0.11891	-3.607	0.17958	T	.	.	0.075	0.19357	B	.;.;.	.;.;.	1.581272	0.20234	14.65	0.81415119328436869	0.13674	0.10352	0.15882	N	AEFBI	0.078953	0.15938	N	-0.639732997772285	0.17760	0.9166018	-0.848024040145651	0.13335	0.6912044	2.21226211095294E-5	0.03498	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.15	-2.89	0.05326	0.015000	0.13250	0.039000	0.13841	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5395:0.3487:0.1119:0.0	9.703	0.39364	958	0.09170	Marvel domain|Marvel domain;Marvel domain;Marvel domain|Marvel domain	.	.	.	.	rs34058038	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2017.83	33	chr19	48375676	.	C	T	2017.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.58;DP=729;ExcessHet=0.119;FS=2.286;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	17	0	2	0
chr19	48376227	48376227	G	A	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon5:c.G614A:p.G205D	.	426	1091	5	0	0	5	0.00228624	.	.	.	2323472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00673333208439	7.7e-05	.	0.0001	0	0	0	0	7.495e-05	0	0.0007	0.00011	17	154602	rs376987626	5.609e-05	5.609e-05	5.173e-05	6.05e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0003	0	0	0	0	0	0.0009	3.597e-05	3.312e-05	0.0004	3.947e-05	3.941e-05	3.858e-05	4.041e-05	8.822e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.059	0.37536	T	0.1	0.38742	T	0.003	0.11197	B	0.005	0.11217	B	0.782057	0.06660	N	1.106500	1	0.08975	N	1.91	0.51138	L	0.66	0.52416	T	-0.82	0.22508	N	0.212	0.23632	-1.0248	0.22148	T	0.066	0.27364	T	10	0.0410825	0.02731	T	0.006733	0.17784	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.5637676839706233	0.56303	0.108005847181	0.12179	0.318521022797	0.13197	T	0.005058	0.04495	T	-0.415446	0.01830	T	-0.485105	0.23906	T	0.0256853442608764	0.01363	T	0.39716	0.10029	T	0.062384624	0.13023	0.0844063	0.19415	0.062384624	0.13023	0.0844063	0.19415	-3.393	0.14963	T	.	.	0.088	0.11606	B	.	.	0.883687	0.12567	9.098	0.74997127712640554	0.10906	0.04328	0.09886	N	AEFGBI	0.060576	0.11522	N	-1.14096661805891	0.05930	0.271654	-1.1409621818824	0.06932	0.3353432	4.41434649992815E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	-1.2	0.09062	0.379000	0.20315	2.532000	0.33172	-0.153000	0.12021	0.254000	0.24889	0.083000	0.22416	0.062000	0.16114	0.2434:0.2788:0.3348:0.1431	1.212	0.01790	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2866.33	34	chr19	48376227	.	G	A	2866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.366;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1221	18	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.07895	1272.79	34	chr19	48443875	.	G	A	1272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.337;DP=460;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.358;SOR=0.75	GT:AD:DP:GQ:PL	0/0:29,0:29:53:0,53,838	16	0	3	0
chr19	48450346	48450346	G	C	exonic	GRWD1	.	nonsynonymous SNV	GRWD1:NM_031485:exon4:c.G502C:p.V168L	.	420	1093	8	1	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0710008916161	0.0010	0.000199681	0.0014	0.0001	0.0009	0	0.0020	0.0018	0	0.0014	0.0012096	187	154602	rs148152481	0.0013	0.0013	0.0013	0.0013	0.0032	0.0013	0.0013	0.0020	0.0016	0.0001	0.0009	7.658e-05	0	0.0027	0.0032	0.0014	0.0011	0.0009	0.0010	0.0010	0.0012	0.0009	0.0012	0.0009	0.0009	0.0010	0.0009	0.0002	0.0186	0.0010	0.0003	0	0.0024	0.0102	0.0012	0.0009	0.0002	0.021	0.49117	D	0.01	0.65728	D	0.0	0.02946	B	0.003	0.08700	B	0.005967	0.32369	N	0.243510	0.999996	0.58761	D	1.95	0.52479	M	-0.29	0.74896	T	-0.98	0.25986	N	0.602	0.62018	-0.6683	0.61905	T	0.240	0.60797	T	10	0.011403292	0.00249	T	0.071001	0.71153	D	0.240	0.54500	0.509	0.60540	0.778457197321	0.77641	0.4654884380735722	0.46467	0.334029153294	0.35426	0.47670969367	0.35604	T	0.025571	0.19569	T	-0.293152	0.09323	T	-0.212884	0.53420	T	0.0175791652374933	0.00492	T	0.910809	0.68393	D	0.05474859	0.10546	0.07374619	0.16060	0.05474859	0.10546	0.07374619	0.16059	-7.59	0.58241	D	.	.	0.438	0.64187	A	.;.	.;.	1.801923	0.22900	15.81	0.98132308122215617	0.38530	0.94740	0.62167	D	AEFDGBCI	0.439858	0.49866	N	-0.347754356198686	0.27354	1.500148	-0.339657874871851	0.26830	1.484611	0.999966086693552	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.59	2.54	0.29674	3.810000	0.55318	3.356000	0.37822	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.539000	0.29915	0.1026:0.0:0.8974:0.0	10.296	0.42806	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	738.33	39	chr19	48450346	.	G	C	738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=662;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.236;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	18	0	1	0
chr19	48493869	48493869	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon13:c.C4004A:p.A1335E	.	240	1280	2	0	0	2	0.00078064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.798687806693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.424	0.17064	T	0.319	0.32965	B	0.086	0.29521	B	0.757053	0.09653	U	0.820981	0.998949	0.21775	N	0.69	0.16971	N	-0.51	0.70717	T	1.76	0.00537	N	0.147	0.19995	-0.9689	0.37427	T	0.141	0.46110	T	10	0.14974204	0.28334	T	0.798688	0.98424	D	0.067	0.19503	0.268	0.21576	0.422762650823	0.41893	.	.	.	.	0.908074498177	0.97285	D	0.00249	0.01884	T	-0.108663	0.34990	T	-0.393864	0.34100	T	0.200109220570005	0.20422	T	0.441356	0.12220	T	0.13980037	0.32280	0.13485001	0.32304	0.13980037	0.32280	0.13485001	0.32303	-5.467	0.41559	T	.	.	0.127	0.28027	B	.;.;.	.;.;.	2.479222	0.31965	18.90	0.97906519796647329	0.36780	0.41123	0.26588	N	AEFDBHCI	0.089994	0.18238	N	-0.517274016875464	0.21521	1.142747	-0.422763811519598	0.24331	1.331755	0.999999983284307	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	3.26	0.848	0.18105	-0.274000	0.08569	3.484000	0.38668	0.482000	0.22156	0.010000	0.18352	1.000000	0.68203	0.822000	0.38733	0.0:0.37:0.4282:0.2017	5.281	0.14984	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	509.39	32	chr19	48493869	.	G	T	509.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.426;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.295;SOR=0.859	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	18	0	1	0
chr19	48497620	48497620	A	G	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon12:c.T3536C:p.L1179P	.	405	1097	18	0	2	20	0.00813743	.	.	.	2225035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0211676968616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024366419	1.306e-05	1.163e-05	1.337e-05	1.273e-05	2.611e-05	7.84e-06	6.22e-06	8.49e-06	6.64e-06	0	0	0	0	0	0	1.463e-05	0	2.611e-05	1.979e-05	1.973e-05	1.289e-05	2.703e-05	6.557e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.557e-05	0	0	0	0	2.947e-05	0	0	0.239	0.17761	T	0.341	0.17964	T	0.0	0.02946	B	0.0	0.01387	B	0.940899	0.08355	N	0.962373	0.999999	0.08975	N	-0.345	0.03330	N	-1.11	0.77593	T	-1.93	0.44852	N	0.218	0.24883	-0.9717	0.36841	T	0.189	0.54064	T	10	0.0882186	0.15168	T	0.021168	0.43897	T	0.210	0.50028	0.263	0.20788	0.257786959452	0.25393	.	.	.	.	0.75117123127	0.74618	T	0.011847	0.10509	T	-0.133429	0.30942	T	-0.429438	0.29998	T	0.0506334842787655	0.05611	T	0.278972	0.04839	T	0.055751596	0.10876	0.07257018	0.15673	0.055751596	0.10876	0.07257018	0.15672	-0.098	0.00385	T	.	.	0.047	0.00075	B	.;.;.	.;.;.	1.102595	0.14872	11.40	0.93523398648346434	0.23341	0.01247	0.04392	N	AEFDBHCI	0.015489	0.00298	N	-1.11260211936782	0.06417	0.2953656	-1.11425696350717	0.07427	0.3612287	0.999998794252687	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	2.89	-0.525	0.11321	0.033000	0.13642	-0.712000	0.07745	0.569000	0.28856	0.091000	0.22601	0.885000	0.27754	0.948000	0.49324	0.3684:0.0:0.6316:0.0	6.665	0.22225	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003684	0.000000	0.002865	0.006061	0.000000	0.000000	0.009677	0.003968	0.02632	327.33	35	chr19	48497620	.	A	G	327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.803;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.966;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	18	0	1	0
chr19	48601118	48601118	C	-	exonic	FAM83E	.	frameshift deletion	FAM83E:NM_017708:exon7:c.1428delG:p.Q477Nfs*64	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	4.783e-05	0	0.0012	0.0001358	21	154602	rs755929901	8.571e-05	9.098e-05	5.322e-05	0.0001	0.0010	7.329e-05	6.832e-05	0.0008	0.0008	0	0	0	0	0	0	2.97e-05	9.963e-05	0.0010	3.941e-05	3.939e-05	3.853e-05	4.034e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.973e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	404.29	33	chr19	48601117	.	GC	G	404.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=659;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-2;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	18	0	1	0
chr19	48609904	48609904	C	T	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon5:c.G730A:p.G244S	.	359	1130	29	4	0	37	0.016108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0033	0.00419329	0.0061	0.0007	0.0013	0.0001	0.0028	0.0059	0.0024	0.0174	0.0054462	842	154602	rs187118641	0.0053	0.0053	0.0047	0.0058	0.0172	0.0052	0.0051	0.0165	0.0162	0.0006	0.0017	0.0046	0.0001	0.0045	0.0071	0.0049	0.0049	0.0172	0.0039	0.0040	0.0037	0.0042	0.0155	0.0037	0.0036	0.0127	0.0117	0.0008	0.0055	0.0036	0.0049	0.0002	0.0045	0.0068	0.0052	0.0043	0.0155	0.161	0.23631	T	0.076	0.42614	T	1.0	0.90584	D	0.999	0.92359	D	0.017654	0.27670	N	0.300998	0.760859	0.29540	N	3.3	0.90472	M	1.65	0.27650	T	-5.8	0.88148	D	0.364	0.40565	-0.8043	0.54891	T	0.138	0.45470	T	10	0.006817043	0.00155	T	.	.	.	0.114	0.32008	.	.	0.488125499135	0.48444	0.8026583632470039	0.80219	0.734570363293	0.62906	0.554340898991	0.46469	T	0.06845	0.33461	T	-0.484359	0.00698	T	-0.454244	0.27229	T	0.0708991474727543	0.08777	T	0.618038	0.23687	T	0.23711321	0.46570	0.27551672	0.53489	0.23711321	0.46570	0.27551672	0.53488	-7.419	0.57038	T	.	.	0.105	0.19398	B	.	.	3.713516	0.53031	23.3	0.9978864881660926	0.87484	0.90985	0.52637	D	AEFDGBI	0.492396	0.52905	N	0.466111255610247	0.65125	4.783068	0.350162004318761	0.58516	4.022677	0.999984587754174	0.51787	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	4.28	3.23	0.36150	2.002000	0.40454	2.598000	0.33506	0.599000	0.40250	0.861000	0.30630	0.447000	0.24933	0.992000	0.67800	0.0:0.8884:0.0:0.1116	8.497	0.32297	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.006793	0.005882	0.000000	0.025862	0.006098	0.011364	0.02632	1704.33	36	chr19	48609904	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=791;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.148;SOR=0.816	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1718,0,1831	18	0	1	0
chr19	48612943	48612943	C	G	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon3:c.G430C:p.E144Q	.	422	1076	24	0	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0036	0.00279553	0.0151	0.0026	0.0030	0	0.0698	0.0198	0.0095	0.0124	0.0035347	92	26028	rs144922959	0.0056	0.0056	0.0055	0.0057	0.0090	0.0055	0.0055	0.0084	0.0082	0.0007	0.0022	0.0021	2.615e-05	0.0199	0.0053	0.0053	0.0048	0.0090	0.0053	0.0053	0.0047	0.0060	0.0065	0.0050	0.0049	0.0060	0.0058	0.0010	0.0307	0.0029	0.0014	0	0.0191	0.0034	0.0065	0.0061	0.0062	0.097	0.30943	T	0.057	0.55341	T	0.251	0.31212	B	0.132	0.33005	B	0.000783	0.41772	N	0.194180	0.564695	0.31228	N	2.285	0.65182	M	2.38	0.15843	T	-1.57	0.37955	N	0.222	0.24883	-1.0529	0.13601	T	0.037	0.15986	T	10	0.008989662	0.00203	T	.	.	.	0.091	0.26358	.	.	0.260735089382	0.25697	0.607910831339999	0.60723	0.291684175593	0.31578	0.400802254677	0.25180	T	0.033081	0.22763	T	-0.546146	0.00308	T	-0.551727	0.17161	T	0.0221097732247113	0.00922	T	0.708229	0.31875	T	0.17021164	0.37583	0.096265286	0.22865	0.17021164	0.37582	0.096265286	0.22865	-6.732	0.52051	T	.	.	0.140	0.30791	B	.;.	.;.	3.268119	0.44723	22.0	0.9961531712173114	0.75052	0.78484	0.38727	D	AEFBCI	0.505119	0.53640	D	-0.128154318384685	0.36169	2.087091	-0.0750261702795989	0.36427	2.119697	0.999999743710461	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.38	4.32	0.50899	1.933000	0.39783	3.998000	0.41048	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.848:0.152:0.0	14.092	0.64522	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006579	0.000000	0.005435	0.000000	0.000000	0.008621	0.003067	0.022727	0.02632	620.33	45	chr19	48612943	.	C	G	620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.495;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.47;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	18	0	1	0
chr19	48629417	48629417	G	T	exonic	SPHK2	.	nonsynonymous SNV	SPHK2:NM_001204160:exon6:c.G1501T:p.D501Y,SPHK2:NM_001243876:exon6:c.G991T:p.D331Y,SPHK2:NM_001204158:exon7:c.G1432T:p.D478Y,SPHK2:NM_001204159:exon7:c.G1609T:p.D537Y,SPHK2:NM_020126:exon7:c.G1609T:p.D537Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0432772371253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.000016	0.62929	D	0.111739	0.968169	0.81001	D	2.15	0.60148	M	2.26	0.17596	T	-5.91	0.88904	D	0.66	0.70878	-1.0524	0.13736	T	0.091	0.34901	T	10	0.7211296	0.73669	D	0.043277	0.60900	D	0.274	0.59007	0.532	0.64002	0.619116397592	0.61603	0.8128343452243554	0.81239	1.38304833559	0.84824	0.518513083458	0.41417	T	0.651146	0.89416	D	0.123029	0.66675	D	-0.0610541	0.66259	T	0.989843606948853	0.80064	D	0.971803	0.91565	D	0.49548724	0.66829	0.33312428	0.59153	0.49548724	0.66830	0.33312428	0.59152	-11.828	0.84231	D	.	.	0.366	0.67157	A	.;.;.;.;.;.	.;.;.;.;.;.	4.434887	0.68801	25.3	0.99282071386237958	0.57938	0.92795	0.56564	D	AEFDBHCI	0.753571	0.69372	D	0.581696188385661	0.72033	5.742454	0.507807085683291	0.68515	5.230663	0.999999999961857	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.592323	0.36904	0	.	.	4.5	4.5	0.54382	6.261000	0.72470	11.676000	0.94162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.1039:0.0:0.8961:0.0	8.641	0.33136	707	0.57054	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1415.33	34	chr19	48629417	.	G	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.264;DP=778;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.885;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1429,0,1461	18	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V,FUT2:NM_001097638:exon2:c.C311T:p.A104V	.	419	1054	48	1	0	50	0.0231696	.	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007560	0.000000	0.006793	0.000000	0.000000	0.008621	0.015244	0.011364	0.02632	1686.33	34	chr19	48703267	.	C	T	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.719;DP=1404;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.14;MQRankSum=0.87;QD=15.47;ReadPosRankSum=-1.74;SOR=0.775	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr19	48703291	48703291	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C335T:p.P112L,FUT2:NM_001097638:exon2:c.C335T:p.P112L	.	419	1072	29	2	0	33	0.0151585	.	.	.	984435	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.734	.	0.0002	0.0373403	0.0191	0.0017	0.0017	0.0001	0	0.0002	0.0080	0.1352	0.0161511	2497	154602	rs200157007	0.0085	0.0085	0.0045	0.0125	0.1355	0.0083	0.0083	0.1334	0.1326	0.0009	0.0015	3.826e-05	0.0003	0	0.0057	0.0001	0.0075	0.1355	0.0055	0.0055	0.0028	0.0083	0.1580	0.0052	0.0050	0.1486	0.1449	0.0009	0	0.0016	0	0.0010	0	0	0.0001	0.0028	0.1580	0.0	0.91255	D	0.002	0.79402	D	0.985	0.61118	D	0.753	0.56122	P	.	.	.	.	0.999705	0.48408	D	3.005	0.85968	M	-3.99	0.96308	D	-8.71	0.97656	D	0.365	0.40665	0.938	0.96210	D	0.914	0.97163	D	9	0.0043191016	0.00087	T	.	.	.	0.734	0.90721	.	.	.	.	0.57160739618024	0.57088	0.681278943641	0.60039	0.493828564882	0.37970	T	0.194935	0.55086	T	0.0583719	0.59409	T	0.265519	0.86352	D	0.091322503377181	0.11374	T	0.989801	0.96720	D	0.5129859	0.67853	0.48962316	0.70470	0.525641	0.68583	0.5260209	0.72616	-13.0	0.89364	D	.	.	0.656	0.71435	P	.;.;.	.;.;.	3.676686	0.52308	23.2	0.99745540007452138	0.83852	0.80024	0.39775	D	AEFBI	0.245940	0.36678	N	0.231645178045518	0.52736	3.446166	0.0461554953908435	0.41885	2.52402	2.69943540582741E-4	0.06244	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.66	2.52	0.29514	3.221000	0.50917	4.382000	0.43185	0.589000	0.31548	0.970000	0.34288	0.996000	0.32793	0.083000	0.17415	0.0:0.817:0.0:0.183	9.142	0.36072	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016633	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.071970	0.02632	1762.33	34	chr19	48703291	.	C	T	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1458;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.95;MQRankSum=0.711;QD=12.96;ReadPosRankSum=-2.397;SOR=0.692	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr19	48703648	48703648	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G692A:p.R231Q,FUT2:NM_001097638:exon2:c.G692A:p.R231Q	.	420	1100	1	1	0	3	0.00136178	.	.	.	4147810	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.285930707156	.	.	2.475e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs368093519	1.642e-05	1.642e-05	1.498e-05	1.788e-05	0.0003	1.111e-05	9.34e-06	0.0002	0.0001	0	0.0003	0	0	3.747e-05	0	7.194e-06	0	1.164e-05	1.315e-05	1.314e-05	0	2.693e-05	6.557e-05	2.19e-06	8.2e-07	.	.	0	0	6.557e-05	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.067	0.44302	T	0.954	0.54400	P	0.557	0.49454	P	.	.	.	.	0.791817	0.34396	D	3.005	0.85968	M	-4.22	0.96982	D	-3.2	0.64710	D	0.372	0.42345	1.128	0.99921	D	0.916	0.97210	D	8	0.76530284	0.76657	D	0.285931	0.90396	D	0.571	0.82573	0.718	0.85319	0.973378256071	0.97309	0.6358774888011882	0.63521	0.526975694872	0.50312	0.343613296747	0.16978	T	0.178217	0.52878	T	-0.0352144	0.46657	T	0.009	0.70930	D	0.773818552494049	0.44670	D	0.906609	0.67067	D	0.20364395	0.42449	0.25422102	0.51083	0.20364395	0.42449	0.25422102	0.51082	-9.103	0.68356	D	.	.	0.147	0.33110	B	.;.	.;.	3.993921	0.58801	24.0	0.99917050818652986	0.98449	0.91043	0.52748	D	AEFGBI	0.653743	0.62667	D	0.39168930086205	0.60972	4.292216	0.299112642479422	0.55488	3.71178	0.889046519880676	0.25803	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.16	4.12	0.47504	5.833000	0.69056	4.638000	0.44143	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0876:0.0:0.9124:0.0	11.646	0.50519	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	46	chr19	48703648	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=1645;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.06;SOR=0.891	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	18	0	1	0
chr19	48745729	48745729	T	C	exonic	IZUMO1	.	nonsynonymous SNV	IZUMO1:NM_182575:exon2:c.A131G:p.H44R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.013548312624	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748592828	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.17126	T	0.23	0.25135	T	0.713	0.42139	P	0.303	0.41149	B	0.000458	0.44317	N	0.101942	0.943838	0.26709	N	1.9	0.50570	L	2.11	0.19860	T	-4.86	0.81187	D	0.396	0.43706	-1.0696	0.09501	T	0.046	0.19599	T	10	0.29339552	0.46914	T	0.013548	0.33038	T	0.137	0.36984	0.337	0.32654	0.237489013734	0.23353	0.7517866746678213	0.75125	1.24422842172	0.81626	0.425935268402	0.28653	T	0.321012	0.69215	T	-0.198937	0.20958	T	-0.426682	0.30313	T	0.739437699317932	0.42707	D	0.626037	0.24205	T	0.48632398	0.66282	0.3794223	0.62997	0.48632398	0.66283	0.3794223	0.62997	-5.965	0.45986	T	.	.	0.426	0.60978	A	.	.	2.451626	0.31569	18.78	0.84925999261936636	0.15580	0.57655	0.30434	D	AEFDBI	0.169310	0.29613	N	-0.19227900771772	0.33455	1.898222	-0.234205689381497	0.30320	1.706095	0.999922273885198	0.46280	0.608966	0.35542	0	0.578056	0.33634	0	0.769059	0.98459	0	0.526803	0.08958	0	.	.	5.01	3.97	0.45241	1.401000	0.34198	0.270000	0.16646	0.665000	0.62972	0.978000	0.35038	0.996000	0.32793	0.288000	0.24212	0.1743:0.0:0.0:0.8257	8.433	0.31930	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2056.33	41	chr19	48745729	.	T	C	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.528;SOR=0.673	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	48859476	48859476	-	C	exonic	PLEKHA4	.	frameshift insertion	PLEKHA4:NM_001161354:exon7:c.684dupG:p.S229Efs*49,PLEKHA4:NM_020904:exon7:c.684dupG:p.S229Efs*49	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	445.29	35	chr19	48859476	.	T	TC	445.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.152;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.575;SOR=0.91	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	18	0	1	0
chr19	48875734	48875734	A	G	exonic	PPP1R15A	.	nonsynonymous SNV	PPP1R15A:NM_014330:exon3:c.A1786G:p.I596V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0275885025746	.	.	2.526e-05	0	0	0	0	4.608e-05	0	0	1.94e-05	3	154602	rs758973673	1.163e-05	1.163e-05	8.172e-06	1.513e-05	1.349e-05	7.09e-06	5.8e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	3.314e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	0.000145	0.49130	D	0.078919	0.971714	0.38891	D	2.13	0.59329	M	1.34	0.34841	T	-0.91	0.24460	N	0.183	0.19861	-0.7726	0.56714	T	0.177	0.52209	T	10	0.3392704	0.51017	T	0.027589	0.50382	D	0.237	0.54074	0.484	0.56621	0.379366414296	0.37549	0.3184418140605732	0.31757	0.314593326926	0.33740	0.533958911896	0.43593	T	0.056223	0.30227	T	-0.117327	0.33562	T	-0.298651	0.44867	T	0.586792767047882	0.35880	D	0.619338	0.23774	T	0.3693323	0.58535	0.30957624	0.56972	0.3693323	0.58536	0.30957624	0.56971	-6.144	0.47468	T	.	.	0.323	0.54718	B	.	.	2.305675	0.29507	18.14	0.99635602036290705	0.76326	0.47258	0.27943	N	AEFGBHCIJ	0.391052	0.46965	N	0.405634972535388	0.61731	4.378	0.324133005397946	0.56962	3.860452	0.999999999983137	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.96	4.96	0.65153	1.598000	0.36351	5.925000	0.51226	0.751000	0.87719	0.978000	0.35038	1.000000	0.68203	0.015000	0.10482	1.0:0.0:0.0:0.0	11.595	0.50227	730	0.54327	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	33	chr19	48875734	.	A	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.814;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.75;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	18	0	1	0
chr19	48904402	48904402	C	T	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon3:c.C191T:p.T64M	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.173723731786	0.0002	.	0.0002	0	0	0.0001	0	0.0003	0.0011	0.0001	0.0001811	28	154602	rs146255002	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.42e-05	0.0002	0.0001	2.988e-05	8.949e-05	7.662e-05	2.521e-05	0	0.0007	0.0001	0.0003	0.0001	0.0001	0.0001	5.154e-05	0.0002	0.0002	6.535e-05	5.342e-05	0.0001	8.885e-05	2.428e-05	0	0	0.0003	0	0	0	0.0002	0	0.0002	0.003	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	2.25	0.63811	M	2.1	0.19990	T	-2.72	0.69357	D	0.431	0.47022	-0.7485	0.58014	T	0.160	0.49514	T	10	0.36074254	0.52711	T	0.173724	0.85033	D	0.263	0.57612	.	.	0.476986058749	0.47329	0.6211508547144021	0.62048	0.991505808425	0.74086	0.763547480106	0.76458	T	0.610761	0.87661	D	-0.26909	0.11859	T	-0.313787	0.43250	T	0.392477691173553	0.28658	T	0.965703	0.88371	D	0.2524523	0.48261	0.28254652	0.54243	0.2524523	0.48261	0.28254652	0.54242	-8.727	0.65923	D	.	.	0.213	0.54883	B	.;.;.;.;.	.;.;.;.;.	5.019590	0.83409	28.0	0.99840175485325733	0.92057	0.91703	0.54084	D	AEFDBI	0.703795	0.65971	D	0.452630466404346	0.64350	4.687787	0.31622451390069	0.56492	3.812668	0.999999803983859	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	3.396000	0.52309	7.473000	0.59173	0.518000	0.23583	0.996000	0.39380	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	14.560	0.67724	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	760.33	40	chr19	48904402	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=726;ExcessHet=0;FS=4.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.015;SOR=0.322	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	18	0	1	0
chr19	48936179	48936179	C	T	exonic	DHDH	.	nonsynonymous SNV	DHDH:NM_014475:exon3:c.C350T:p.A117V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00229205170292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270206683	2.769e-06	4.788e-06	1.375e-06	4.183e-06	2.542e-05	6.5e-07	4.4e-07	3e-07	1.1e-07	0	0	0	2.542e-05	0	0	1.81e-06	0	1.183e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.014	0.62352	D	0.007	0.14184	B	0.006	0.12133	B	0.001702	0.38216	N	0.318961	1	0.31391	N	0.975	0.24501	L	1.96	0.22270	T	-1.24	0.32387	N	0.117	0.17002	-1.0272	0.21363	T	0.037	0.15943	T	10	0.11292955	0.21199	T	0.002292	0.04397	T	0.045	0.12272	0.591	0.71999	0.186928172975	0.18263	0.3791107673983318	0.37826	0.129197832396	0.14567	0.739347219467	0.72875	T	0.035251	0.23644	T	-0.442557	0.01249	T	-0.697632	0.05956	T	0.398051619529724	0.28868	T	0.438556	0.18722	T	0.09538332	0.22446	0.09883611	0.23576	0.09538332	0.22446	0.09883611	0.23576	-8.004	0.61098	D	.	.	0.207	0.47805	B	.;.	.;.	2.656993	0.34605	19.67	0.99849204108007017	0.92838	0.25901	0.22837	N	AEFBI	0.180028	0.30732	N	-0.470229309240722	0.23060	1.236	-0.364063731808069	0.26078	1.438106	0.0122571468984637	0.12301	0.581397	0.33459	0	0.78372	0.99691	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.39	3.35	0.37468	1.785000	0.38315	4.298000	0.42932	-0.107000	0.15377	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.1879:0.1786:0.6335:0.0	4.788	0.12604	769	0.49307	Oxidoreductase, N-terminal;Oxidoreductase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	712.33	35	chr19	48936179	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.796;DP=724;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.774;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	18	0	1	0
chr19	49016232	49016232	G	A	exonic	LHB	.	nonsynonymous SNV	LHB:NM_000894:exon3:c.C262T:p.R88W	Hypogonadotropic hypogonadism 23 with or without anosmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	742047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.320	0.210042278878	.	0.000199681	0.0004	0	0	0.0055	0	3.022e-05	0	0.0001	0.0003493	54	154602	rs146251380	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0027	0.0025	2.991e-05	4.473e-05	0	0.0031	0	0.0002	7.735e-05	0.0001	0.0001	0.0002	0.0002	7.708e-05	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	6.533e-05	0	0.0052	0	0	2.941e-05	0.0005	0.0002	0.011	0.55530	D	0.001	0.83351	D	0.057	0.22878	B	0.009	0.14300	B	0.519948	0.11753	N	0.779549	0.999927	0.19486	N	2.53	0.73802	M	-2.83	0.91249	D	-4.98	0.82141	D	0.258	0.29197	0.147	0.85013	D	0.738	0.91047	D	10	0.023076266	0.00593	T	0.210042	0.87231	D	0.320	0.64215	.	.	0.881783468173	0.88062	0.41287213845133647	0.41203	0.0857855291812	0.09691	0.327191144228	0.14510	T	0.861376	0.96927	D	-0.263277	0.12520	T	-0.146671	0.59538	T	0.0922612855067189	0.11483	T	0.753825	0.37593	T	0.57365566	0.71260	0.5022225	0.71225	0.57365566	0.71261	0.5022225	0.71225	-8.637	0.65333	D	0.3886237931904241	0.48209	0.115	0.23113	B	.;.	.;.	3.316552	0.45594	22.2	0.99232848846849642	0.56278	0.30691	0.24147	N	AEFDGBHCI	0.234674	0.35739	N	-0.476291694801702	0.22859	1.223562	-0.505411360364221	0.22006	1.193167	0.990738750700466	0.32251	0.413467	0.06321	2	0.573116	0.20632	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	4.71	3.67	0.41236	1.608000	0.36458	8.320000	0.76961	-0.103000	0.15852	0.169000	0.23921	1.000000	0.68203	0.031000	0.13245	0.1007:0.0:0.8993:0.0	9.438	0.37814	744	0.52588	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1236.33	36	chr19	49016232	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=769;ExcessHet=0;FS=6.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=0.821;SOR=0.238	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	18	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G,CGB2:NM_033378:exon2:c.C82G:p.R28G	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041339	0.049020	0.062500	0.049383	0.000000	0.026786	0.028689	0.000000	0.02632	37.35	14	chr19	49032576	.	C	G	37.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=231;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=33.11;MQRankSum=-0.253;QD=6.23;ReadPosRankSum=-0.431;SOR=0.223	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	18	0	1	0
chr19	49035741	49035741	G	C	exonic	CGB1	.	nonsynonymous SNV	CGB1:NM_001382421:exon3:c.C301G:p.R101G,CGB1:NM_033377:exon3:c.C337G:p.R113G	.	55	1466	1	0	0	1	0.000340948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0203683247546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.031	0.53788	D	0.997	0.70673	D	0.944	0.68059	D	0.004191	0.34013	N	0.297707	0.999997	0.08975	N	.	.	.	0.38	0.57575	T	-2.59	0.55821	D	0.23	0.25867	-0.8658	0.50842	T	0.242	0.61000	T	9	0.33660892	0.50797	T	0.020368	0.42951	T	0.122	0.33800	0.482	0.56302	0.523702305895	0.52015	0.10488492193737634	0.10418	2.60909197159	0.98228	0.674881100655	0.63535	T	.	.	.	-0.123678	0.32523	T	-0.415432	0.31599	T	0.929547131061554	0.59367	D	0.956904	0.86318	D	.	.	.	.	.	.	.	.	-5.527	0.42120	T	.	.	0.274	0.50736	B	.;.	.;.	3.664779	0.52079	23.2	0.96665419816557197	0.30643	0.51446	0.28897	D	AEFI	0.140994	0.26305	N	-0.148833590792985	0.35283	2.024725	-0.374547738087384	0.25758	1.418508	1.22592796924734E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.8	0.688	0.17190	2.258000	0.42905	6.650000	0.56213	0.340000	0.19754	0.993000	0.37899	1.000000	0.68203	0.032000	0.13371	0.0:0.0:0.666:0.334	5.375	0.15462	774	0.48577	.;Glycoprotein hormone subunit beta|Gonadotropin, beta subunit, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	161.33	35	chr19	49035741	.	G	C	161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.382;DP=585;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.85;MQRankSum=1.16;QD=6.72;ReadPosRankSum=-0.735;SOR=0.859	GT:AD:DP:GQ:PL	0/1:16,8:24:99:175,0,467	18	0	1	0
chr19	49182608	49182608	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon6:c.G232A:p.A78T,TRPM4:NM_001321281:exon9:c.G949A:p.A317T,TRPM4:NM_001321283:exon9:c.G772A:p.A258T,TRPM4:NM_001195227:exon11:c.G1294A:p.A432T,TRPM4:NM_017636:exon11:c.G1294A:p.A432T	Progressive familial heart block, type IB, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	44160	Brugada_syndrome|not_specified|Progressive_familial_heart_block_type_IB|not_provided|Progressive_familial_heart_block,_type_1A|Cardiovascular_phenotype	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN169374|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C3661900|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.936	0.441204065499	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0004981	77	154602	rs201907325	0.0003	0.0003	0.0003	0.0003	0.0165	0.0003	0.0003	0.0138	0.0128	0.0004	0.0011	0.0002	0	3.765e-05	0.0165	0.0002	0.0011	0.0003	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0	0	0.0306	0.0003	0.0024	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.994571	0.46054	D	3.75	0.95014	H	-3.65	0.95179	D	-3.73	0.70920	D	0.931	0.93605	1.061	0.98362	D	0.917	0.97237	D	10	0.57386726	0.65469	D	0.441204	0.94168	D	0.936	0.98563	.	.	0.969639277537	0.96931	0.7712721926761618	0.77077	0.951829843149	0.72665	0.615200996399	0.55051	T	0.87695	0.97389	D	0.229112	0.76638	D	0.505886	0.94742	D	0.22107050864626	0.21517	T	0.874313	0.59062	D	0.73118526	0.79790	0.6919338	0.81870	0.79244655	0.83428	0.6287725	0.78351	-12.115	0.86430	D	.	.	0.588	0.70414	P	.;.	.;.	5.223865	0.87673	29.3	0.99905667910186702	0.97651	0.97328	0.74058	D	AEFDBI	0.771559	0.70615	D	0.662261753085294	0.77164	6.622359	0.584479128384237	0.73826	6.034571	0.996793260373016	0.35014	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.18	4.18	0.48473	5.062000	0.64156	11.517000	0.93029	0.652000	0.53365	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	13.848	0.62976	724	0.55085	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.009511	0.023392	0.000000	0.034483	0.003049	0.003788	0.02632	1991.33	37	chr19	49182608	.	G	A	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=892;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.007;SOR=0.775	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1462	18	0	1	0
chr19	49188641	49188641	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon8:c.G682A:p.G228S,TRPM4:NM_001321281:exon11:c.G1399A:p.G467S,TRPM4:NM_001321283:exon11:c.G1222A:p.G408S,TRPM4:NM_001321282:exon12:c.G136A:p.G46S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,TRPM4:NM_017636:exon13:c.G1744A:p.G582S	Progressive familial heart block, type IB, Autosomal dominant	0	1512	10	0	0	10	0.00329598	0.0689	0.292	.	44159	Brugada_syndrome|Progressive_familial_heart_block_type_IB|Progressive_familial_heart_block,_type_1A|not_specified|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.346	0.0587369708908	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0005239	81	154602	rs172149856	0.0004	0.0004	0.0003	0.0004	0.0187	0.0003	0.0003	0.0159	0.0148	0.0005	0.0011	0.0002	0	3.744e-05	0.0187	0.0002	0.0012	0.0004	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0.0002	0	0.0272	0.0004	0.0024	0.0004	0.54	0.06802	T	0.198	0.27767	T	0.031	0.27048	B	0.022	0.32014	B	0.008555	0.30785	N	0.305518	0.873662	0.30748	N	2.26	0.64354	M	-0.69	0.72678	T	-0.92	0.24676	N	0.736	0.73645	-0.5215	0.67858	T	0.278	0.64936	T	9	0.122550696	0.23251	T	0.058737	0.67421	D	0.346	0.66769	.	.	0.845382614911	0.84390	0.5028328119573782	0.50205	0.323987150426	0.34555	0.693807482719	0.66253	T	0.157972	0.50080	T	-0.0767316	0.40243	T	0.0665631	0.74681	D	0.0210352330281828	0.00804	T	0.79912	0.44420	T	0.12536728	0.29390	0.08490786	0.19568	0.13705452	0.31748	0.086858	0.20151	-9.277	0.69463	D	.	.	0.138	0.36436	B	.;.	.;.	2.512285	0.32452	19.05	0.98112427699294635	0.38367	0.84878	0.43971	D	AEFDBCI	0.483744	0.52406	N	-0.0465788964203101	0.39754	2.349606	0.0219845822298943	0.40738	2.436016	0.0458505707760079	0.14668	0.615465	0.37627	0	0.547309	0.14657	0	0.491614	0.08109	1	0.655142	0.61905	0	.	.	4.37	3.31	0.37025	4.467000	0.59889	5.496000	0.48760	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0901:0.0:0.9099:0.0	11.838	0.51611	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.009511	0.023392	0.000000	0.043103	0.003049	0.003788	0.02632	1352.33	44	chr19	49188641	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=802;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.787;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr19	49190772	49190772	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon11:c.G1147A:p.G383R,TRPM4:NM_001321281:exon14:c.G1864A:p.G622R,TRPM4:NM_001321283:exon14:c.G1687A:p.G563R,TRPM4:NM_001321282:exon15:c.G601A:p.G201R,TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,TRPM4:NM_017636:exon16:c.G2209A:p.G737R	Progressive familial heart block, type IB, Autosomal dominant	1	1503	18	0	0	18	0.00595238	0	0.008	.	471078	Cardiovascular_phenotype|not_provided|Progressive_familial_heart_block_type_IB|Hypertrophic_cardiomyopathy|TRPM4-related_disorder|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239424|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	.	0.0016	0.00339457	0.0021	0.0007	0.0010	0	0	0.0017	0.0011	0.0076	0.0019663	304	154602	rs145847114	0.0019	0.0019	0.0017	0.0021	0.0080	0.0019	0.0018	0.0069	0.0067	0.0004	0.0016	0.0023	0	5.616e-05	0.0080	0.0016	0.0023	0.0073	0.0019	0.0019	0.0017	0.0020	0.0081	0.0017	0.0016	0.0061	0.0054	0.0006	0	0.0045	0.0032	0.0002	0	0.0068	0.0020	0.0024	0.0081	0.351	0.31532	T	0.383	0.44905	T	0.029	0.65571	B	0.004	0.54588	B	0.559069	0.11355	N	0.765258	0.999998	0.18198	N	1.215	0.30540	L	-0.78	0.73631	T	-0.86	0.23372	N	0.106	0.17140	-0.7843	0.56059	T	0.244	0.61272	T	10	0.0053512156	0.00158	T	.	.	.	0.052	0.14661	0.207	0.12356	0.414021929199	0.41020	0.29411502003148443	0.29324	0.341058034284	0.36042	0.426400899887	0.28717	T	0.113814	0.43114	T	-0.560977	0.00250	T	-0.574995	0.14994	T	0.0012355460696675	0.00012	T	0.631737	0.24648	T	0.055500925	0.10794	0.04793476	0.07013	0.07357339	0.16450	0.06681196	0.13737	-4.552	0.31563	T	.	.	0.080	0.07985	B	.;.	.;.	-0.448845	0.02037	0.184	0.38968747206885496	0.02660	0.00947	0.03649	N	AEFDBI	0.035433	0.04561	N	-1.65416017566898	0.01017	0.04411651	-1.80202939046551	0.00752	0.03355292	0.0736113551052467	0.15640	0.615465	0.37627	0	0.578056	0.33634	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.82	-7.16	0.01364	-0.841000	0.04467	-0.546000	0.08555	-0.890000	0.02392	0.001000	0.13787	0.000000	0.08366	0.246000	0.23158	0.505:0.2724:0.2225:0.0	5.659	0.16932	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2487.33	35	chr19	49190772	.	G	A	2487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.66;DP=867;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.751;SOR=0.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	49211240	49211240	C	T	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon19:c.C2549T:p.P850L,TRPM4:NM_001321281:exon22:c.C3266T:p.P1089L,TRPM4:NM_001321283:exon22:c.C3089T:p.P1030L,TRPM4:NM_001195227:exon23:c.C3176T:p.P1059L,TRPM4:NM_001321282:exon23:c.C2003T:p.P668L,TRPM4:NM_017636:exon24:c.C3611T:p.P1204L	Progressive familial heart block, type IB, Autosomal dominant	0	1510	10	2	0	14	0.00461437	.	.	.	377844	not_provided|not_specified|Conduction_disorder_of_the_heart|Progressive_familial_heart_block_type_IB|Family_history_of_sudden_cardiac_death|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C2825161|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	0.0022	0.00159744	0.0038	0.0002	0.0032	0.0017	0.0144	0.0051	0.0025	0.0012	0.0027361	423	154602	rs150391806	0.0032	0.0032	0.0032	0.0031	0.0056	0.0031	0.0031	0.0041	0.0035	0.0005	0.0028	0.0053	0	0.0085	0.0056	0.0031	0.0040	0.0019	0.0031	0.0031	0.0029	0.0033	0.0039	0.0029	0.0028	0.0035	0.0034	0.0005	0	0.0032	0.0046	0	0.0101	0.0170	0.0039	0.0033	0.0006	0.212	0.19500	T	0.014	0.63109	D	0.643	0.43436	P	0.106	0.33210	B	1.000000	0.07966	U	0.063246	0.973922	0.42745	D	2.105	0.58435	M	0.4	0.58029	T	-1.81	0.49684	N	0.356	0.43706	-1.0333	0.19395	T	0.052	0.22114	T	10	0.0052702427	0.00115	T	.	.	.	0.066	0.19193	.	.	0.54963036629	0.54620	0.3162248289933597	0.31535	0.76600582791	0.64516	0.485783040524	0.36855	T	0.129644	0.45804	T	-0.432269	0.01436	T	-0.393845	0.34102	T	0.0137080974838715	0.00256	T	0.546745	0.21412	T	0.023863325	0.01163	0.032395322	0.01968	0.021031514	0.00685	0.039202422	0.03959	-4.811	0.34720	T	.	.	0.079	0.13174	B	.;.	.;.	2.565280	0.33231	19.28	0.98493446180827937	0.42120	0.45933	0.27648	N	AEFDBHCI	0.101165	0.20324	N	-0.62552999127538	0.18179	0.941786	-0.62145099700017	0.18943	1.014175	0.999985827701064	0.51787	0.733237	0.96898	0	0.547309	0.14657	0	0.600757	0.32118	0	0.635551	0.53088	0	.	.	4.61	2.49	0.29274	2.030000	0.40728	2.540000	0.33211	-0.182000	0.10109	0.345000	0.25717	0.037000	0.21475	0.020000	0.11549	0.0:0.7815:0.0:0.2185	6.309	0.20362	661	0.61838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005066	0.010101	0.000000	0.005848	0.000000	0.008772	0.006250	0.007576	0.02632	1302.33	36	chr19	49211240	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=758;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=3.13;SOR=0.462	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	18	0	1	0
chr19	49290243	49290243	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon12:c.G2091A:p.M697I	.	429	1090	3	0	0	3	0.00137426	.	.	.	2378388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.111	0.00752118909624	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs753409719	4.925e-05	4.925e-05	2.722e-05	7.15e-05	0.0007	3.992e-05	3.669e-05	0.0006	0.0005	0	0	0	0	0	0.0005	2.698e-06	4.967e-05	0.0007	6.569e-06	6.562e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.922	0.02298	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	1623.550000	1	0.08975	N	-0.49	0.02651	N	-0.71	0.72889	T	-0.25	0.11008	N	0.022	0.00372	-0.9527	0.40503	T	0.102	0.37743	T	10	0.015222609	0.00320	T	0.007521	0.19952	T	0.111	0.31313	0.128	0.03331	0.346544149963	0.34258	0.06073439329352825	0.06013	0.203671947699	0.22786	0.248803794384	0.03643	T	0.015958	0.13282	T	-0.597426	0.00151	T	-0.69976	0.05839	T	0.0149546529540831	0.00319	T	0.265273	0.04325	T	0.07731978	0.17542	0.052189942	0.08550	0.07731978	0.17541	0.052189942	0.08550	-2.631	0.06742	T	.	.	0.108	0.20274	B	.	.	-2.017706	0.00097	0.002	0.21539136257211122	0.00825	0.00268	0.01460	N	AEFBI	0.031832	0.03479	N	-2.44807020986365	0.00021	0.0009085581	-2.51919479151638	0.00021	0.0009223329	0.999708720035903	0.41986	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.44	-6.89	0.01501	-3.622000	0.00461	-5.517000	0.01690	-1.037000	0.01675	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1799:0.2367:0.1655:0.4179	1.346	0.02034	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1349.33	37	chr19	49290243	.	C	T	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.297;DP=731;ExcessHet=0;FS=6.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.449;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr19	49290251	49290251	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon12:c.G2083A:p.G695R	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00499001356206	8.2e-05	0.000798722	0.0008	0.0001	0.0006	0	0	0.0003	0.0011	0.0043	0.0007568	117	154602	rs142309154	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0003	0.0035	0.0034	2.987e-05	0.0005	7.652e-05	5.038e-05	3.744e-05	0.0016	0.0002	0.0004	0.0038	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0	0	0	0.0003	0.0009	0.0033	0.281	0.15458	T	0.675	0.06205	T	0.001	0.07471	B	0.001	0.04355	B	0.000343	0.00575	N	5.708400	1	0.08975	N	-1.04	0.01097	N	-0.89	0.74793	T	-0.09	0.08340	N	0.051	0.02272	-0.9173	0.45918	T	0.175	0.51880	T	10	0.0075016916	0.00171	T	0.00499	0.12598	T	0.084	0.24469	0.423	0.46693	0.393159880135	0.38930	0.09514126781596599	0.09446	0.219569769292	0.24499	0.177281498909	0.00071	T	0.016878	0.13870	T	-0.608366	0.00130	T	-0.646796	0.09180	T	0.0119725130992159	0.00188	T	0.40206	0.10263	T	0.05907532	0.11963	0.06679932	0.13734	0.05907532	0.11962	0.06679932	0.13734	-3.625	0.18219	T	.	.	0.067	0.02578	B	.	.	-0.821076	0.01066	0.046	0.25875510481531577	0.01213	0.00086	0.00577	N	AEFBI	0.023828	0.01384	N	-1.39396868668587	0.02694	0.1193253	-1.41213179256823	0.03130	0.145405	9.28887096942892E-5	0.04910	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	3.29	-0.139	0.12803	-1.967000	0.01598	-2.507000	0.03670	-1.062000	0.01615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5719:0.0:0.4281	6.063	0.19074	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1658.33	37	chr19	49290251	.	C	T	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.374;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.453;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	18	0	1	0
chr19	49364606	49364606	G	A	exonic	DKKL1	.	nonsynonymous SNV	DKKL1:NM_001197301:exon2:c.G35A:p.R12Q,DKKL1:NM_014419:exon2:c.G35A:p.R12Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00622144632985	.	.	5.046e-05	0	0	0	0	3.052e-05	0	0.0003	3.88e-05	6	154602	rs778820244	2.808e-05	2.805e-05	2.044e-05	3.579e-05	0.0004	2.089e-05	1.88e-05	0.0002	0.0001	0	2.238e-05	0	0	0	0.0004	1.529e-05	1.66e-05	0.0002	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.23	0.18308	T	0.412	0.14544	T	0.606	0.39465	P	0.067	0.27542	B	0.005809	0.01096	N	3.146000	1	0.08975	N	0.69	0.16971	N	2.42	0.16217	T	-0.8	0.22078	N	0.14	0.13911	-1.0331	0.19459	T	0.023	0.09650	T	10	0.065378726	0.08810	T	0.006221	0.16317	T	0.061	0.17616	0.165	0.06955	0.0401082797425	0.02173	0.19984329664463513	0.19901	0.161424824733	0.18220	0.41400295496	0.27011	T	0.074985	0.35071	T	-0.468531	0.00868	T	-0.631354	0.10312	T	0.0605053454637527	0.07248	T	0.475652	0.14239	T	0.036716223	0.04569	0.046905685	0.06640	0.036716223	0.04569	0.046905685	0.06640	-5.402	0.40938	T	.	.	0.101	0.17445	B	.;.	.;.	2.553748	0.33063	19.23	0.94695598440418138	0.25343	0.43609	0.27136	N	AEFDBI	0.124165	0.24010	N	-0.796990465574189	0.13389	0.6591825	-0.857046437009559	0.13118	0.6787681	0.999941381511016	0.47345	0.580535	0.33130	0	0.547309	0.14657	0	0.459711	0.06710	0	0.604944	0.38103	0	.	.	3.25	-0.379	0.11871	3.039000	0.49481	5.220000	0.47996	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.1234:0.0:0.4452:0.4314	3.979	0.08977	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	33	chr19	49364606	.	G	A	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.299;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	18	0	1	0
chr19	49430667	49430667	C	A	exonic	SLC17A7	.	nonsynonymous SNV	SLC17A7:NM_020309:exon12:c.G1535T:p.G512V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0207024556571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.065	0.44702	T	0.417	0.35244	B	0.142	0.33681	B	0.031338	0.25183	N	0.292894	0.999999	0.58761	D	0.695	0.17993	N	-0.08	0.63911	T	-1.51	0.36787	N	0.151	0.16864	-0.9970	0.30755	T	0.121	0.42079	T	10	0.118993044	0.22509	T	0.020702	0.43346	T	0.063	0.18251	0.262	0.20631	0.082315109003	0.07666	0.2973517915138093	0.29648	0.0706932169073	0.07925	0.578177452087	0.49829	T	0.420147	0.77194	T	-0.0565565	0.43443	T	-0.319016	0.42682	T	0.388729283117756	0.28516	T	0.941706	0.78221	D	0.11555089	0.27266	0.13435932	0.32197	0.11555089	0.27265	0.13435932	0.32196	-4.462	0.32071	T	.	.	0.184	0.39848	B	.;.	.;.	3.947979	0.57820	23.9	0.99120864080146531	0.52985	0.91552	0.53768	D	AEFDGBCI	0.762556	0.69993	D	0.00639864534157422	0.42146	2.533908	0.14467291012475	0.46860	2.925211	0.999999987871485	0.74766	0.475244	0.09938	2	0.541168	0.11318	0	0.641878	0.46077	1	0.63947	0.58350	0	.	.	4.68	3.65	0.40985	3.986000	0.56647	5.801000	0.49937	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.991000	0.66497	0.0:0.8078:0.0:0.1922	6.423	0.20958	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2027.33	34	chr19	49430667	.	C	A	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.192;DP=814;ExcessHet=0;FS=1.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.768;SOR=0.558	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	49462691	49462691	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon7:c.G881A:p.R294Q,ALDH16A1:NM_153329:exon8:c.G1034A:p.R345Q	.	373	1144	1	0	4	5	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0217854203867	0.0002	.	6.886e-05	0	0.0002	0	0	9.399e-05	0	0	5.82e-05	9	154602	rs140656618	4.948e-05	4.925e-05	4.103e-05	5.801e-05	0.0002	4.011e-05	3.686e-05	5.952e-05	4.048e-05	6.044e-05	0.0001	0	5.057e-05	0	0.0002	4.594e-05	6.668e-05	6.996e-05	5.258e-05	5.254e-05	3.856e-05	6.725e-05	0.0002	2.558e-05	1.83e-05	2.262e-05	9.08e-06	4.827e-05	0	0.0001	0	0	0	0	4.411e-05	0	0.0002	0.043	0.41364	D	0.038	0.52389	D	0.694	0.41805	P	0.117	0.32014	B	0.089564	0.20420	N	0.461469	1	0.08975	N	-1.1	0.00987	N	-0.98	0.75789	T	-0.12	0.08809	N	0.41	0.45047	-0.9433	0.42089	T	0.167	0.50648	T	10	0.18071651	0.33268	T	0.021785	0.44605	T	0.262	0.57482	.	.	0.685496779553	0.68280	0.4354324392636099	0.43460	0.344355146686	0.36367	0.545769095421	0.45260	T	0.038303	0.37286	T	-0.0192578	0.48959	T	-0.265439	0.48280	T	0.0222091632223985	0.00933	T	0.909809	0.68064	D	0.033604126	0.03612	0.041848596	0.04850	0.033604126	0.03611	0.041848596	0.04849	-3.4	0.15057	T	.	.	0.088	0.22245	B	.;.;.	.;.;.	2.612781	0.33937	19.49	0.99866009504940845	0.94366	0.39449	0.26215	N	AEFDCI	0.132262	0.25151	N	-0.250086547100643	0.31101	1.740517	-0.127674469164704	0.34279	1.97003	0.920466494454848	0.26633	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.03	1.58	0.22557	0.496000	0.22207	4.073000	0.41680	0.614000	0.49286	0.011000	0.18532	0.999000	0.35428	0.762000	0.36218	0.0998:0.1755:0.5436:0.1811	2.965	0.05542	799	0.44747	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	35	chr19	49462691	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1023;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.655;SOR=0.585	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	49470337	49470337	G	A	exonic	ALDH16A1	.	nonsynonymous SNV	ALDH16A1:NM_001145396:exon16:c.G2126A:p.G709E,ALDH16A1:NM_153329:exon17:c.G2279A:p.G760E	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0678735282293	.	.	5.831e-05	9.946e-05	8.645e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs753288641	1.506e-05	1.505e-05	8.171e-06	2.201e-05	0.0002	9.86e-06	8.42e-06	0.0001	0.0001	0	4.473e-05	0	0	0	0.0002	8.994e-07	0	0.0002	6.572e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.123	0.29029	T	0.85	0.05958	T	0.999	0.77913	D	0.979	0.74454	D	0.009452	0.30355	N	0.297856	0.965987	0.38502	D	-0.305	0.03614	N	-0.9	0.74896	T	-2.42	0.58733	N	0.219	0.34120	-0.2011	0.77643	T	0.437	0.77663	T	10	0.24959779	0.42273	T	0.067874	0.70290	D	0.425	0.73299	0.508	0.60386	0.890244917997	0.88915	0.3539173759415015	0.35305	0.475177538353	0.46692	0.79679274559	0.81475	T	0.218825	0.66576	T	-0.0532515	0.43951	T	-0.0139447	0.69427	D	0.373952776193619	0.27950	T	0.79722	0.45334	T	0.18992525	0.40555	0.22972609	0.48053	0.18992525	0.40554	0.22972609	0.48052	-12.574	0.87822	D	.	.	0.197	0.51763	B	.;.;.	.;.;.	3.872151	0.56223	23.7	0.99616526284898188	0.75172	0.43128	0.27030	N	ALL	0.449767	0.50445	N	0.397616314795085	0.61293	4.328392	0.382882015588587	0.60511	4.239343	0.999999999999977	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	2.684000	0.46618	7.311000	0.58126	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:1.0:0.0	14.107	0.64624	769	0.49307	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4011.81	35	chr19	49470337	.	G	A	4011.81	.	AC=2;AF=0.053;AN=38;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.89;SOR=1.169	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	18	1	0	0
chr19	49514281	49514281	G	C	exonic	FCGRT	.	nonsynonymous SNV	FCGRT:NM_004107:exon3:c.G396C:p.K132N,FCGRT:NM_001136019:exon4:c.G396C:p.K132N	.	408	1107	6	1	0	8	0.00360036	.	.	.	705158	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0059	0.00339457	0.0069	0.0024	0.0050	0.0005	0.0122	0.0079	0.0166	0.0078	0.0062677	969	154602	rs150420714	0.0075	0.0075	0.0075	0.0074	0.0080	0.0074	0.0073	0.0078	0.0078	0.0013	0.0052	0.0028	7.572e-05	0.0123	0.0014	0.0080	0.0067	0.0076	0.0059	0.0060	0.0056	0.0063	0.0080	0.0056	0.0055	0.0074	0.0072	0.0016	0.0143	0.0061	0.0043	0.0004	0.0127	0	0.0080	0.0043	0.0062	0.006	0.61437	D	0.106	0.37872	T	0.946	0.53363	P	0.375	0.43710	B	0.980927	0.07839	N	1.012730	0.996123	0.23108	N	1.445	0.36358	L	5.7	0.06445	T	-1.37	0.33998	N	0.317	0.35727	-0.9012	0.47868	T	0.003	0.00961	T	10	0.0067214966	0.00152	T	.	.	.	0.104	0.29647	0.554	0.67133	0.382940591053	0.37911	0.8124143011311555	0.81197	0.692715444287	0.60680	0.378436505795	0.22034	T	0.165557	0.51145	T	-0.552967	0.00280	T	-0.55768	0.16595	T	0.0162126682914609	0.00395	T	0.80032	0.45382	T	0.6124355	0.73358	0.14730112	0.34864	0.6124355	0.73359	0.14730112	0.34864	-4.441	0.30109	T	.	.	0.515	0.74883	A	.;.;.;.;.	.;.;.;.;.	3.080404	0.41440	21.4	0.99718381977743231	0.81843	0.15273	0.18831	N	AEFDBI	0.589928	0.58662	D	0.0936500651444614	0.46167	2.861276	0.0231053205491822	0.40789	2.440017	0.999583453350803	0.40607	0.72623	0.87236	0	0.670034	0.63936	0	0.594344	0.31042	0	0.727631	0.95156	0	.	.	4.43	0.922	0.18534	2.459000	0.44680	0.022000	0.13604	0.654000	0.53741	0.466000	0.26691	0.015000	0.20450	0.910000	0.44547	0.2422:0.2182:0.5395:0.0	3.495	0.07215	794	0.45591	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	923.33	37	chr19	49514281	.	G	C	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=752;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.598;SOR=1.192	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr19	49539123	49539123	C	T	exonic	RCN3	.	nonsynonymous SNV	RCN3:NM_020650:exon5:c.C623T:p.T208I	.	420	1098	2	0	2	4	0.000909918	.	.	.	2359572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.538	0.0691193671612	7.7e-05	.	7.655e-05	0.0006	0	0	0	0	0	0.0002	5.82e-05	9	154602	rs146820947	1.792e-05	1.984e-05	1.921e-05	1.662e-05	0.0002	1.247e-05	1.06e-05	9.953e-05	7.964e-05	0.0002	2.39e-05	0	0	0	0	9.027e-07	8.353e-05	0.0002	7.227e-05	7.218e-05	6.427e-05	8.065e-05	0.0002	3.971e-05	3.127e-05	0.0001	9.918e-05	0.0002	0	0	0	0	0	0	0	0.0005	0	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	0.76	0.49919	T	-5.76	0.87835	D	0.579	0.60071	-0.4161	0.71516	T	0.356	0.71873	T	10	0.67236555	0.70789	D	0.069119	0.70642	D	0.538	0.80664	.	.	0.746167403995	0.74388	0.8007525347034888	0.80029	0.130044795835	0.14670	0.745419323444	0.73771	T	0.048315	0.27982	T	0.0298764	0.55706	T	0.123212	0.78447	D	0.903016686439514	0.55612	D	0.825317	0.48765	T	0.6913299	0.77583	0.60595965	0.77093	0.6913299	0.77585	0.60595965	0.77094	-9.661	0.71857	D	.	.	0.940	0.85926	P	.	.	4.669067	0.74605	26.2	0.99879697166297676	0.95572	0.99573	0.97585	D	AEFBI	0.874677	0.79768	D	0.872939013938002	0.90374	10.37448	0.837108020570201	0.92240	11.31413	0.999999999999984	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	2.970000	0.48932	7.118000	0.57587	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.899000	0.43558	0.0:1.0:0.0:0.0	18.440	0.90611	846	0.36215	EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	832.33	33	chr19	49539123	.	C	T	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.42;DP=710;ExcessHet=0;FS=3.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.907;SOR=1.264	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	18	0	1	0
chr19	49556409	49556409	G	A	exonic	NOSIP	.	nonsynonymous SNV	NOSIP:NM_001270960:exon8:c.C742T:p.L248F,NOSIP:NM_001363649:exon9:c.C751T:p.L251F,NOSIP:NM_015953:exon9:c.C742T:p.L248F	.	.	.	.	.	.	.	.	.	.	.	4000781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.210033157741	.	.	8.499e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs779054554	5.474e-06	5.472e-06	5.447e-06	5.502e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	3.312e-05	0	6.577e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.378	0.16425	T	0.321	0.33029	B	0.274	0.40037	B	0.035018	0.24698	N	0.354064	1	0.08975	N	1.935	0.51832	L	-2.09	0.86077	D	.	.	.	0.294	0.33360	-0.6414	0.63086	T	0.448	0.78366	T	10	0.15488729	0.29206	T	0.210033	0.87230	D	0.139	0.37390	0.326	0.30873	0.684844282287	0.68215	0.5634589924620937	0.56272	.	.	0.553073942661	0.46291	T	0.100683	0.44860	T	-0.0982105	0.36721	T	-0.248398	0.49974	T	0.0653002038598061	0.07975	T	0.968203	0.88468	D	0.093361825	0.21927	0.10333975	0.24791	0.093361825	0.21927	0.10333975	0.24791	-10.31	0.75746	D	.	.	0.283	0.51583	B	.;.	.;.	2.908408	0.38574	20.8	0.98359795035853759	0.40628	0.16957	0.19625	N	AEFDGBHCI	0.095251	0.19248	N	-0.670856339398229	0.16855	0.8624249	-0.692004715826194	0.17160	0.9112087	0.999999564414247	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.52208	0.10781	0	0.735409	0.98432	0	.	.	5.15	0.165	0.14282	0.620000	0.24097	2.339000	0.32242	0.676000	0.76740	0.110000	0.22992	1.000000	0.68203	0.885000	0.42453	0.0:0.2195:0.4505:0.33	9.449	0.37878	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	39	chr19	49556409	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=745;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.512;SOR=0.49	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1071	18	0	1	0
chr19	49590043	49590043	C	G	exonic	PRRG2	.	nonsynonymous SNV	PRRG2:NM_000951:exon6:c.C581G:p.P194R,PRRG2:NM_001316335:exon6:c.C512G:p.P171R	.	771	746	3	2	0	7	0.00466978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	.	0.00139776	0.0068	0	0.0068	0.0120	0	0.0041	0	0.0089	0.0005563	86	154602	rs372675632	0.0006	0.0006	0.0005	0.0008	0.0065	0.0006	0.0006	0.0046	0.0045	0.0003	0.0004	8.344e-05	0.0011	0	0.0065	0.0002	0.0021	0.0051	0.0006	0.0006	0.0006	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	0.0008	0	0.0003	0.0003	0.0029	0	0	0.0004	0.0014	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-5.77	0.99345	D	-6.39	0.91141	D	0.643	0.65501	1.073	0.98673	D	0.976	0.99257	D	10	0.011936605	0.00259	T	.	.	.	0.735	0.90764	0.266	0.21261	0.884095820214	0.88296	0.4825222161902031	0.48172	0.674593520347	0.59651	0.728881716728	0.71343	T	0.162555	0.50727	T	-0.0799155	0.39729	T	0.113797	0.77824	D	0.0910726108496826	0.11345	T	0.692231	0.30167	T	0.806334	0.84313	0.71152985	0.82982	0.806334	0.84315	0.71152985	0.82982	-8.668	0.65537	D	.	.	0.507	0.64880	A	.	.	4.355391	0.66934	25.0	0.99844365323190465	0.92403	0.70248	0.34513	D	ALL	0.456216	0.50818	N	0.661671955834873	0.77125	6.615091	0.598155458747023	0.74809	6.200	0.999999999947203	0.74766	0.495158	0.18159	0	0.607795	0.50457	0	0.503968	0.08637	0	0.75052	0.99595	0	.	.	4.76	4.76	0.60189	3.182000	0.50611	5.840000	0.50240	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	13.595	0.61449	760	0.50470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002670	0.000000	0.000000	0.010526	0.000000	0.000000	0.000000	0.009091	0.02778	114.82	6	chr19	49590043	.	C	G	114.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.543;DP=174;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.048;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.821;SOR=0.169	GT:AD:DP:GQ:PL	./.:13,0:13:0:0,0,337	17	0	1	1
chr19	49616159	49616159	G	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon9:c.G5437A:p.G1813R	.	412	1099	11	0	0	11	0.00497963	.	.	.	2818598	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	0.00523459104631	.	0.000399361	0.0014	0	0.0017	0	0	0.0007	0	0.0035	0.0004204	65	154602	rs575045686	0.0004	0.0004	0.0004	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	3.112e-05	0.0004	0	2.724e-05	0	0.0048	0.0003	0.0004	0.0021	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	2.406e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0023	0.181	0.21884	T	0.138	0.37589	T	0.001	0.07471	B	0.002	0.06944	B	0.056254	0.22575	N	0.325941	0.999494	0.21100	N	0.69	0.16971	N	.	.	.	-1.32	0.32991	N	0.231	0.25989	-1.0909	0.05383	T	0.061	0.25635	T	9	0.009221971	0.00208	T	0.005235	0.13341	T	0.035	0.08770	0.268	0.21576	0.0934897674506	0.08844	0.5002204742617575	0.49943	1.15477031298	0.79331	0.653204441071	0.60441	T	0.007512	0.06912	T	-0.463009	0.00941	T	-0.443715	0.28393	T	0.0362889213210903	0.03032	T	0.727427	0.36376	T	0.06152916	0.12751	0.08645577	0.20030	0.06152916	0.12751	0.08645577	0.20030	.	.	.	.	.	0.231	0.52102	B	.;.	.;.	4.251278	0.64538	24.7	0.99722372962702299	0.82125	0.79106	0.39137	D	AEFBI	0.106450	0.21238	N	-0.38024584700704	0.26174	1.426465	-0.251383694461775	0.29724	1.667626	0.00124049920714649	0.08362	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.81	3.72	0.41857	0.667000	0.24794	7.176000	0.57738	0.526000	0.24426	0.086000	0.22486	1.000000	0.68203	0.291000	0.24285	0.1237:0.0:0.8763:0.0	7.149	0.24776	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003043	0.000000	0.002725	0.002941	0.000000	0.000000	0.006211	0.003788	0.05263	2760.81	34	chr19	49616159	.	G	A	2760.81	.	AC=2;AF=0.053;AN=38;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.67;SOR=1.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	18	1	0	0
chr19	49635620	49635620	C	T	exonic	RRAS	.	nonsynonymous SNV	RRAS:NM_006270:exon6:c.G613A:p.A205T	.	.	.	.	.	.	.	.	.	.	.	2372597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0169455082734	7.7e-05	.	9.036e-05	0	0	0	0	6.251e-05	0	0.0007	8.41e-05	13	154602	rs373517601	3.587e-05	4.378e-05	2.896e-05	4.312e-05	0.0005	2.75e-05	2.459e-05	0.0004	0.0003	0	0	0	0	0	0	1.576e-05	1.935e-05	0.0005	1.982e-05	1.972e-05	1.291e-05	2.707e-05	0.0006	5.27e-06	2.46e-06	0.0002	9.107e-05	0	0	0	0	0	0	0	0	0	0.0006	0.466	0.08584	T	0.521	0.10429	T	0.039	0.21116	B	0.007	0.12992	B	0.346663	0.13880	N	0.632698	0.966891	0.25873	N	-0.47	0.02713	N	-0.44	0.69777	T	0.28	0.04233	N	0.045	0.01740	-1.0418	0.16770	T	0.098	0.36651	T	10	0.022734731	0.00576	T	0.016946	0.38442	T	0.065	0.18881	.	.	0.680807706874	0.67809	0.34136788731922657	0.34049	0.432433378056	0.43418	0.520510554314	0.41698	T	0.251274	0.62150	T	-0.409059	0.02017	T	-0.455448	0.27096	T	0.0424865310386838	0.04143	T	0.284972	0.05045	T	0.05163071	0.09509	0.04838413	0.07176	0.05163071	0.09509	0.04838413	0.07175	-3.53	0.16854	T	.	.	0.066	0.02118	B	.	.	1.792284	0.22787	15.76	0.99414927099988415	0.63453	0.11714	0.16814	N	AEFDGBHCI	0.061292	0.11706	N	-0.577977130389572	0.19615	1.02795	-0.398634973953019	0.25037	1.374575	0.999826337065074	0.43622	0.645754	0.44609	0	0.694456	0.67091	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.89	3.81	0.43020	0.149000	0.16062	-0.057000	0.12472	0.594000	0.32500	0.020000	0.19661	0.000000	0.08366	0.861000	0.40843	0.0:0.693:0.2043:0.1027	6.198	0.19773	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	680.33	37	chr19	49635620	.	C	T	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.676;DP=697;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.367;SOR=1.104	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1141	18	0	1	0
chr19	49652413	49652413	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2024C:p.C675S	.	341	1179	2	0	0	2	0.000847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0986100243925	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267297652	3.467e-06	3.421e-06	6.895e-06	0	3.614e-06	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.614e-06	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.11696	T	0.759	0.04652	T	0.0	0.02946	B	0.0	0.01387	B	0.147078	0.18092	N	0.398233	1	0.08975	N	0	0.06538	N	1.65	0.27650	T	0.42	0.03352	N	0.074	0.04790	-1.0390	0.17617	T	0.037	0.15770	T	9	0.07604504	0.11830	T	0.09861	0.76970	D	0.086	0.25016	0.2	0.11384	0.043077524339	0.03247	0.04730773108904398	0.04673	0.77805699904	0.65136	0.814657628536	0.84207	D	0.013933	0.11958	T	-0.35803	0.04242	T	-0.752062	0.03406	T	0.0398725298188631	0.03667	T	0.177582	0.01737	T	0.07341565	0.16403	0.10425398	0.25035	0.07341565	0.16403	0.10425398	0.25035	1.478	0.00084	T	.	.	0.060	0.00876	B	.	.	0.317347	0.06923	3.463	0.59257314969426211	0.06182	0.10744	0.16162	N	AEFBI	0.109400	0.21730	N	-0.945459882465041	0.09795	0.4651595	-0.949612093984267	0.10932	0.5538126	0.996063452437635	0.34501	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	2.8	2.8	0.31881	2.170000	0.42071	1.981000	0.30034	-0.280000	0.06433	0.029000	0.20367	0.080000	0.22369	0.004000	0.06068	0.0:0.0:1.0:0.0	12.764	0.56755	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1659.33	35	chr19	49652413	.	G	C	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=753;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.593;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,916	18	0	1	0
chr19	49653077	49653077	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2688C:p.K896N	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0296879997583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.265	0.22694	T	0.978	0.58756	D	0.647	0.52336	P	0.003356	0.35069	N	0.000000	0.848663	0.35185	D	0.895	0.22405	L	1.15	0.38236	T	-1.69	0.40274	N	0.362	0.40364	-1.0313	0.20034	T	0.070	0.28577	T	9	0.24888569	0.42192	T	0.029688	0.52149	D	0.072	0.21020	0.185	0.09388	0.0675242888579	0.06100	0.22913516829429736	0.22828	0.742370381414	0.63329	0.731953144073	0.71791	T	0.069297	0.33673	T	-0.226398	0.17128	T	-0.562981	0.16099	T	0.466988290239392	0.31421	T	0.607939	0.22935	T	0.21711297	0.44186	0.20557289	0.44732	0.21711297	0.44186	0.20557289	0.44731	-7.367	0.56671	T	.	.	0.922	0.84365	P	.	.	3.653349	0.51862	23.2	0.98829145662808338	0.46919	0.79009	0.39072	D	AEFDGBCI	0.229511	0.35302	N	-0.0709126542114252	0.38672	2.268598	-0.120112196207766	0.34580	1.990725	0.770417298348585	0.23662	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	1.82	0.24209	1.536000	0.35678	5.629000	0.49110	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	1.000000	0.97212	0.2865:0.0:0.7135:0.0	7.604	0.27260	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1980.33	35	chr19	49653077	.	G	C	1980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=855;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.18;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,916	18	0	1	0
chr19	49659641	49659641	C	T	exonic	IRF3	.	nonsynonymous SNV	IRF3:NM_001197122:exon8:c.G1307A:p.R436H	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0166855437334	0.0002	.	0.0008	0	0	0.0010	0.0078	0.0006	0.0018	8.573e-05	0.0003752	58	154602	rs199920869	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	2.994e-05	2.277e-05	0.0018	0.0005	0.0032	0.0019	0.0001	0.0002	0.0002	0.0006	0.0006	0.0003	0.0009	0.0006	0.0005	0.0004	0.0002	8.992e-05	2.415e-05	0	0	0.0026	0	0.0059	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-4.48	0.98279	D	.	.	.	0.061	0.03726	.	.	.	.	.	.	.	0.006164372	0.00139	T	0.016686	0.38065	T	.	.	.	.	0.955589340873	0.95511	0.11601073347476552	0.11529	0.888446336127	0.70112	0.191496536136	0.00252	T	0.005986	0.05431	T	-0.267066	0.12086	T	-0.287248	0.46058	T	.	.	.	0.427157	0.15447	T	.	.	.	.	.	.	.	.	-4.0	0.23804	T	.	.	0.084	0.24294	B	.;.;.	.;.;.	-0.465392	0.01980	0.173	0.20207654407800232	0.00716	0.09748	0.15434	N	AEFDBHCI	0.060135	0.11406	N	.	.	.	.	.	.	0.966113618768677	0.28880	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	0.99	-1.98	0.07070	-1.544000	0.02296	-3.397000	0.02818	-3.010000	0.00140	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3056:0.2369:0.4575	2.995	0.05630	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.001359	0.000000	0.000000	0.000000	0.006173	0.007576	0.02632	1628.33	33	chr19	49659641	.	C	T	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.601;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.011;SOR=0.711	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr19	49669033	49669033	G	T	exonic	BCL2L12	.	nonsynonymous SNV	BCL2L12:NM_001040668:exon5:c.G596T:p.G199V,BCL2L12:NM_001282516:exon5:c.G599T:p.G200V,BCL2L12:NM_001282519:exon5:c.G599T:p.G200V,BCL2L12:NM_001385706:exon5:c.G344T:p.G115V,BCL2L12:NM_138639:exon5:c.G347T:p.G116V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0244307261285	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259228867	9.578e-06	9.577e-06	9.529e-06	9.627e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.42199	D	0.009	0.70582	D	0.981	0.59675	D	0.85	0.60657	P	0.009694	0.30245	N	0.155857	0.999973	0.81001	D	0.895	0.22405	L	0.57	0.54347	T	-3.07	0.64939	D	0.331	0.41656	-0.9435	0.42057	T	0.156	0.48738	T	10	0.19170663	0.34868	T	0.024431	0.47418	T	0.120	0.33359	0.201	0.11522	0.631724915229	0.62871	0.3864612360665706	0.38561	0.806452370599	0.66494	0.535750865936	0.43846	T	0.325776	0.69646	T	-0.143327	0.29361	T	-0.443656	0.28400	T	0.887539207935333	0.53804	D	0.841716	0.51747	T	0.106889375	0.25275	0.15267672	0.35910	0.106889375	0.25275	0.15267672	0.35909	-4.099	0.25275	T	.	.	0.121	0.45507	B	.;.;.;.;.	.;.;.;.;.	2.708382	0.35391	19.89	0.99610769875873262	0.74813	0.67369	0.33408	D	AEFBHI	0.181956	0.30927	N	0.130136211078959	0.47873	3.006993	0.0945653972143269	0.44275	2.712415	0.111627742430875	0.16663	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	1.72	0.23498	1.713000	0.37570	3.588000	0.39180	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.706000	0.34326	0.3074:0.0:0.6926:0.0	7.296	0.25566	788	0.46569	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2356.33	33	chr19	49669033	.	G	T	2356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.297;DP=821;ExcessHet=0;FS=4.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.728;SOR=0.943	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	18	0	1	0
chr19	49809255	49809255	G	A	exonic	FUZ	.	nonsynonymous SNV	FUZ:NM_001171937:exon6:c.C586T:p.P196S,FUZ:NM_001352262:exon7:c.C694T:p.P232S,FUZ:NM_001363663:exon7:c.C544T:p.P182S,FUZ:NM_025129:exon7:c.C694T:p.P232S	Neural tube defects, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2393916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.155198009031	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	2.59e-05	4	154602	rs552515373	2.931e-05	2.873e-05	2.963e-05	2.899e-05	3.244e-05	2.181e-05	1.963e-05	2.355e-05	2.084e-05	0	2.801e-05	0	0	0	0	3.244e-05	6.898e-05	1.262e-05	1.971e-05	1.969e-05	1.285e-05	2.687e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.024	0.47745	D	0.039	0.55759	D	0.944	0.60733	P	0.651	0.58350	P	0.000246	0.46924	D	0.185646	0.507143	0.81001	D	2.395	0.69210	M	2.09	0.20122	T	-3.09	0.63438	D	0.577	0.59901	-0.8727	0.50326	T	0.095	0.35844	T	10	0.35309577	0.52123	T	0.155198	0.83618	D	0.177	0.44549	0.386	0.40624	0.359357374593	0.35551	0.7453537287127694	0.74481	0.584187970407	0.54108	0.671582460403	0.63064	T	0.688233	0.90911	D	-0.0528381	0.44014	T	-0.185896	0.55973	T	0.942375242710114	0.61651	D	0.852015	0.55989	D	0.20681438	0.42868	0.15225944	0.35831	0.20681438	0.42868	0.15225944	0.35830	-7.938	0.67426	D	.	.	0.572	0.69041	P	.;.;.	.;.;.	4.818238	0.78455	26.9	0.99865940338549097	0.94366	0.54336	0.29591	D	AEFDGBHCI	0.463357	0.51231	N	0.532375516497929	0.69015	5.297528	0.504997697633741	0.68326	5.204665	0.999999975615576	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.604282	0.37693	0	.	.	4.99	3.95	0.44952	4.726000	0.61680	11.412000	0.92693	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0972:0.0:0.9028:0.0	9.940	0.40745	625	0.65529	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	823.33	36	chr19	49809255	.	G	A	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=717;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.081;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr19	49835773	49835773	C	T	exonic	MED25	.	nonsynonymous SNV	MED25:NM_001378355:exon16:c.C1793T:p.A598V,MED25:NM_030973:exon16:c.C1793T:p.A598V	Basel-Vanagait-Smirin-Yosef syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0392498693545	.	.	1.025e-05	0	0	0	0	1.883e-05	0	0	6.5e-06	1	154602	rs774013649	2.747e-06	2.737e-06	2.734e-06	2.761e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.706e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.217	0.26145	T	0.001	0.07471	B	0.001	0.04355	B	0.101470	0.19837	N	0.525934	0.998585	0.24109	N	0.205	0.09354	N	-1.15	0.77964	T	-0.68	0.21860	N	0.241	0.29197	-0.8136	0.54331	T	0.234	0.60087	T	10	0.09857613	0.17833	T	0.03925	0.58699	D	0.225	0.52323	0.14	0.04369	0.610832418033	0.60769	0.2990290897404058	0.29815	0.220290994	0.24570	0.517861604691	0.41325	T	0.089022	0.38283	T	-0.130713	0.31380	T	-0.425536	0.30444	T	0.184692817940899	0.19526	T	0.886711	0.61387	D	0.082288295	0.18948	0.09803377	0.23357	0.082288295	0.18948	0.09803377	0.23356	-4.053	0.24594	T	.	.	0.078	0.09336	B	.;.;.;.;.	.;.;.;.;.	3.505793	0.49069	22.7	0.99878487752229195	0.95491	0.83722	0.42821	D	AEFBI	0.122264	0.23732	N	-0.280668344382917	0.29894	1.661955	-0.102150547457091	0.35303	2.040866	0.00582898984164078	0.11053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.2	4.11	0.47350	1.271000	0.32700	5.799000	0.49924	0.549000	0.26987	0.752000	0.29155	1.000000	0.68203	0.877000	0.41881	0.0:0.9079:0.0:0.0921	12.837	0.57164	617	0.66297	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	34	chr19	49835773	.	C	T	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.701;DP=723;ExcessHet=0;FS=2.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.081;SOR=1.063	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1187	18	0	1	0
chr19	49890587	49890587	C	A	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G676T:p.V226L,IL4I1:NM_152899:exon8:c.G787T:p.V263L,IL4I1:NM_001258017:exon10:c.G853T:p.V285L,IL4I1:NM_001258018:exon10:c.G853T:p.V285L,IL4I1:NM_172374:exon10:c.G853T:p.V285L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.775152926553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.067e-07	1.368e-06	0	1.429e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.33753	T	0.315	0.19421	T	0.006	0.13644	B	0.009	0.14300	B	0.587976	0.05575	N	1.263030	1	0.08975	N	1.475	0.37068	L	-2.95	0.91903	D	-1.47	0.35991	N	0.04	0.01347	-0.3239	0.74313	T	0.624	0.86771	D	10	0.3286972	0.50134	T	0.775153	0.98225	D	0.251	0.56024	0.693	0.83032	0.428747304603	0.42495	0.6683682615884012	0.66774	0.472386944088	0.46475	0.680229008198	0.64301	T	0.597837	0.87066	D	-0.106663	0.35320	T	-0.39099	0.34435	T	0.294416040182114	0.24773	T	0.623338	0.24021	T	0.2664247	0.49713	0.16485003	0.38166	0.2664247	0.49712	0.16485003	0.38165	-5.323	0.41265	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	2.196359	0.28006	17.65	0.96488268192611604	0.29998	0.24270	0.22341	N	ALL	0.103926	0.20808	N	-0.466959564034017	0.23169	1.24231	-0.374838755330969	0.25750	1.417972	0.999999999904994	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.06	2.96	0.33383	0.299000	0.18892	1.001000	0.23261	0.446000	0.21189	0.004000	0.16614	0.045000	0.21693	0.893000	0.43066	0.0:0.7448:0.2552:0.0	8.787	0.33985	632	0.64850	Amine oxidase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	664.33	35	chr19	49890587	.	C	A	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=672;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.11;SOR=0.307	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	18	0	1	0
chr19	49958569	49958569	G	C	exonic	SIGLEC11	.	stopgain	SIGLEC11:NM_052884:exon8:c.C1365G:p.Y455X	.	397	1094	31	0	0	31	0.0139703	0.0001	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.844e-05	0	0	0	0	3.235e-05	0	0	3.84e-05	1	26028	rs773869337	1.271e-05	0.0013	1.118e-05	1.428e-05	2.65e-05	7.95e-06	6.56e-06	6.66e-06	5.13e-06	0	2.65e-05	0	0	1.948e-05	0	1.193e-05	1.719e-05	2.523e-05	0.0002	0.0043	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0002	0	0	0.0002	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005903	0.32413	N	0.142496	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308415	0.83624	D	0.20524	0.83412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.970865	0.95980	35	0.99364742905910408	0.61155	0.27032	0.23163	N	AEFDBI	0.347829	0.44217	N	0.385460505234018	0.60633	4.254436	0.0331304876469149	0.41264	2.476144	8.35550253576146E-5	0.04703	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.69	0.248	0.14786	0.248000	0.17971	-4.073000	0.02358	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.1561:0.0:0.5925:0.2514	3.402	0.06903	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	265.33	49	chr19	49958569	.	G	C	265.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=789;ExcessHet=0;FS=10.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.03;MQRankSum=-8.491;QD=2.07;ReadPosRankSum=-3.581;SOR=2.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr19	49960927	49960927	T	C	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon2:c.A85G:p.N29D,SIGLEC11:NM_052884:exon2:c.A85G:p.N29D	.	442	1053	27	0	0	27	0.0126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0003	.	0.0662	0.0095	0.0208	0.1856	0.0231	0.0056	0.0786	0.1464	3.84e-05	1	26028	rs200296439	0.0042	0.0083	0.0032	0.0053	0.0470	0.0041	0.0041	0.0457	0.0452	0.0040	0.0007	0.0011	0.0305	0.0018	0.0036	0.0004	0.0084	0.0470	0.0023	0.0046	0.0018	0.0028	0.0256	0.0021	0.0020	0.0216	0.0201	0.0030	0	0.0006	0.0009	0.0184	0.0007	0	0.0001	0	0.0256	0.571	0.06164	T	0.465	0.12421	T	0.331	0.45487	B	0.059	0.43610	B	0.095258	0.02495	N	1.936730	1	0.08975	N	0.345	0.11182	N	0.64	0.53088	T	-0.39	0.13611	N	0.067	0.10769	-1.0249	0.22116	T	0.034	0.14552	T	10	0.002983749	0.00049	T	.	.	.	0.032	0.07718	.	.	.	.	0.209645105844584	0.20880	1.58830836567	0.88484	0.354236632586	0.18544	T	0.001429	0.00891	T	-0.349013	0.04789	T	-0.73911	0.03929	T	0.0188154434886379	0.00592	T	0.385961	0.09480	T	0.037533235	0.04831	0.0443495	0.05725	0.037533235	0.04830	0.0443495	0.05725	-1.703	0.02370	T	.	.	0.141	0.31783	B	.;.	.;.	0.645171	0.10137	6.880	0.44129638138846117	0.03371	0.00313	0.01653	N	AEFDGI	0.030872	0.03188	N	-1.3398583203919	0.03231	0.1439835	-1.54079620489919	0.02040	0.09324497	0.0738438980302888	0.15647	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	2.39	-4.77	0.02985	-0.037000	0.12116	-20.000000	0.00162	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3888:0.2039:0.4074	6.061	0.19064	681	0.59854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011008	0.000000	0.001385	0.017241	0.000000	0.000000	0.003546	0.040650	0.02632	1475.33	124	chr19	49960927	.	T	C	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.172;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.01;MQRankSum=-2.551;QD=11.9;ReadPosRankSum=-0.003;SOR=0.597	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr19	49972089	49972089	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon6:c.T1255C:p.F419L	.	413	1089	17	3	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00758786	0.0004	9.99e-05	8.702e-05	0.0001	0	0.0006	0	0.0001	0.0003493	54	154602	rs567880477	0.0006	0.0032	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0002	0.0004	0.0013	7.566e-05	0.0017	0.0016	0.0006	0.0013	8.164e-05	0.0049	0.0088	0.0051	0.0047	0.0075	0.0046	0.0045	0.0069	0.0067	0.0012	0.0056	0.0041	0.0081	0	0.0066	0.0180	0.0075	0.0064	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	40	chr19	49972089	.	T	C	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.157;DP=1003;ExcessHet=0;FS=15.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=-5.783;QD=1.55;ReadPosRankSum=-2.243;SOR=3.043	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr19	49972640	49972640	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon7:c.T1307C:p.V436A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	.	7.393e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs780786407	4.036e-05	2.683e-05	4.296e-05	3.836e-05	0.0001	2.35e-05	1.833e-05	2.673e-05	1.99e-05	0.0001	3.605e-05	8.658e-05	0	0	0	5.265e-05	0	1.67e-05	3.944e-05	3.938e-05	2.572e-05	5.378e-05	5.884e-05	1.716e-05	1.13e-05	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0068	5.884e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1253.33	40	chr19	49972640	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.218;SOR=0.721	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr19	50226912	50226912	A	G	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon7:c.A796G:p.I266V,MYH14:NM_001077186:exon8:c.A820G:p.I274V,MYH14:NM_001145809:exon8:c.A820G:p.I274V	Deafness, autosomal dominant 4A, Autosomal dominant	1	1497	22	2	0	26	0.00860927	.	.	.	176039	not_provided|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_4A|MYH14-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.251596887955	0.0008	0.000199681	0.0005	9.701e-05	8.657e-05	0	0	0.0006	0	0.0010	0.0004463	69	154602	rs200424400	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0030	0.0026	0	0.0003	0.0003	0	0	0.0043	0.0003	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	2.41e-05	0	0.0002	0.0003	0	0	0	0.0005	0.0014	0.0008	0.016	0.52492	D	0.031	0.53788	D	0.975	0.67487	D	0.868	0.68536	P	.	.	.	.	0.999996	0.58761	D	2.2	0.62015	M	-2.39	0.88377	D	-0.87	0.23808	N	0.6	0.62526	0.619	0.92149	D	0.758	0.91742	D	9	0.22559306	0.39393	T	0.251597	0.89138	D	0.625	0.85511	.	.	0.751287166028	0.74903	0.3715412704269541	0.37068	0.664657686102	0.59097	0.760631024837	0.76023	T	0.370975	0.73542	T	-0.227062	0.17040	T	-0.159533	0.58395	T	0.0847291871905327	0.10581	T	0.89931	0.65300	D	0.11250037	0.26578	0.3126077	0.57261	0.12450874	0.29211	0.33650658	0.59451	-11.556	0.82621	D	0.5531031834935545	0.62149	0.560	0.71213	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.374302	0.67375	25.1	0.99788685013762934	0.87484	0.98060	0.79260	D	AEFDBI	0.912232	0.87258	D	0.650209491620924	0.76382	6.476178	0.593234592558211	0.74452	6.13973	0.827293745451382	0.24630	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.92	3.92	0.44525	9.150000	0.93833	10.916000	0.84210	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	11.04	0.47042	840	0.37365	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1081.33	33	chr19	50226912	.	A	G	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=756;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.36;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	18	0	1	0
chr19	50278128	50278128	G	T	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon28:c.G3748T:p.V1250L,MYH14:NM_001077186:exon29:c.G3772T:p.V1258L,MYH14:NM_001145809:exon30:c.G3871T:p.V1291L	Deafness, autosomal dominant 4A, Autosomal dominant	1	1495	24	2	0	28	0.00927767	.	.	.	350272	not_provided|MYH14-related_disorder|Autosomal_dominant_nonsyndromic_hearing_loss_4A	MedGen:C3661900|.|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.161	0.0276819235757	0.0007	0.000599042	0.0009	0	0.0007	0	0	0.0004	0	0.0046	0.0006856	106	154602	rs202242879	0.0005	0.0005	0.0003	0.0007	0.0044	0.0005	0.0004	0.0040	0.0039	3.007e-05	0.0004	0	0	0	0.0017	0.0002	0.0008	0.0044	0.0003	0.0004	0.0003	0.0004	0.0031	0.0003	0.0002	0.0019	0.0015	4.811e-05	0	0.0003	0	0	0	0	0.0004	0.0019	0.0031	0.561	0.06361	T	0.739	0.19188	T	0.005	0.30455	B	0.006	0.22741	B	.	.	.	.	0.993289	0.23740	N	0.655	0.16177	N	-1.17	0.78199	T	-0.39	0.13611	N	0.372	0.42737	-0.9688	0.37448	T	0.179	0.52458	T	9	0.008254945	0.00187	T	0.027682	0.50460	D	0.161	0.41658	0.532	0.64002	0.694429665094	0.69179	0.1476503461638704	0.14687	0.152353913493	0.17194	0.686698257923	0.65230	T	0.115396	0.43395	T	-0.36413	0.03902	T	-0.295969	0.45148	T	0.0166452478240921	0.00423	T	0.867413	0.56831	D	0.088014625	0.20517	0.19030067	0.42425	0.09887534	0.23328	0.22415437	0.47317	-3.287	0.13570	T	0.11419704912702887	0.10080	0.191	0.44669	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.076593	0.41376	21.3	0.8761747199626374	0.17357	0.44019	0.27226	N	AEFDBI	0.337859	0.43552	N	-0.541350272907762	0.20755	1.096517	-0.394565273123147	0.25158	1.381879	9.43938364382813E-4	0.08042	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.78	3.78	0.42629	2.154000	0.41917	7.195000	0.57783	0.671000	0.69459	0.962000	0.33725	1.000000	0.68203	0.996000	0.76049	0.1192:0.0:0.8808:0.0	7.375	0.25998	740	0.53092	.;.;Myosin tail;.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	1800.33	35	chr19	50278128	.	G	T	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.799;DP=877;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.294;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1424	18	0	1	0
chr19	50293278	50293278	C	T	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon36:c.C5179T:p.R1727W,MYH14:NM_001077186:exon37:c.C5203T:p.R1735W,MYH14:NM_001145809:exon38:c.C5302T:p.R1768W	Deafness, autosomal dominant 4A, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	797903	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.451	0.290767804427	.	.	2.737e-05	0	0	0	0	4.861e-05	0	0	1.29e-05	2	154602	rs766866459	1.921e-05	2.121e-05	1.774e-05	2.07e-05	5.055e-05	1.332e-05	1.147e-05	1.462e-05	1.229e-05	0	0	0	5.055e-05	0	0	2.161e-05	1.661e-05	1.172e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.025	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.591764	0.32462	D	2.475	0.71894	M	-1.24	0.78967	T	-7.15	0.94096	D	0.64	0.77319	0.236	0.86509	D	0.597	0.85609	D	9	0.6592406	0.70056	D	0.290768	0.90556	D	0.451	0.75143	0.533	0.64148	0.794785988198	0.79287	0.554681748226215	0.55395	0.673678565086	0.59604	0.730019748211	0.71509	T	0.813293	0.95357	D	-0.00324544	0.51206	T	-0.1726	0.57206	T	0.906743228435516	0.56084	D	0.995834	0.98556	D	0.14890827	0.33973	0.13700691	0.32760	0.14890827	0.33973	0.13700691	0.32759	-12.124	0.85450	D	0.730619312750258	0.81227	0.420	0.67195	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.526253	0.71015	25.6	0.99894714580174981	0.96819	0.66855	0.33224	D	AEFDBI	0.691816	0.65168	D	0.157220278498115	0.49155	3.11904	-0.030745534756881	0.38334	2.256971	0.0302185532208346	0.13930	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	3.51	-0.185	0.12624	-0.099000	0.10976	-0.464000	0.09021	0.580000	0.29708	0.266000	0.25007	0.000000	0.08366	0.990000	0.65344	0.5169:0.4831:0.0:0.0	10.437	0.43625	698	0.58074	.;Myosin tail;.;Myosin tail;.;.;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	38	chr19	50293278	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.18;DP=722;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=1.41;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	18	0	1	0
chr19	50401786	50401786	C	G	exonic	POLD1	.	nonsynonymous SNV	POLD1:NM_001308632:exon3:c.C325G:p.Q109E,POLD1:NM_001256849:exon4:c.C325G:p.Q109E,POLD1:NM_002691:exon4:c.C325G:p.Q109E	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant	394	1127	1	0	0	1	0.000443459	.	.	.	575024	Mandibular_hypoplasia-deafness-progeroid_syndrome|Immunodeficiency_120|Colorectal_cancer,_susceptibility_to,_10|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649|MONDO:MONDO:0970994,MedGen:C5935622,OMIM:620836|MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.00752956566928	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334973313	6.849e-06	6.84e-06	2.726e-06	1.101e-05	0.0002	3.46e-06	2.53e-06	3.766e-05	2.662e-05	0	0	0	0	0	0.0002	1.799e-06	0	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.906	0.02389	T	0.985	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.316035	0.04044	N	1.579440	1	0.08975	N	-0.345	0.03330	N	1.98	0.21865	T	0.12	0.05604	N	0.042	0.01498	-1.0019	0.29372	T	0.022	0.09513	T	10	0.030182868	0.01145	T	0.00753	0.19979	T	0.020	0.03691	0.205	0.12076	0.276482976112	0.27267	0.22109416487393044	0.22024	0.204660752202	0.22886	0.329291522503	0.14826	T	0.126352	0.45267	T	-0.431072	0.01460	T	-0.653381	0.08718	T	0.019820396986193	0.00684	T	0.711729	0.32279	T	0.05119302	0.09364	0.037501384	0.03416	0.05119302	0.09363	0.037501384	0.03416	-4.557	0.31627	T	.	.	0.088	0.11606	B	.;.;.;.;.	.;.;.;.;.	0.026342	0.04469	1.185	0.68772820414857105	0.08762	0.08130	0.14097	N	AEFDBHCI	0.060527	0.11509	N	-1.311968073188	0.03537	0.158176	-1.29906438875342	0.04443	0.2096168	0.00387273744073212	0.10318	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.85	0.233	0.14656	0.293000	0.18785	0.381000	0.17781	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.0:0.5191:0.2244:0.2565	3.289	0.06533	749	0.51929	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	3340.81	106	chr19	50401786	.	C	G	3340.81	.	AC=2;AF=0.053;AN=38;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.893	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	1	0	0
chr19	50459235	50459235	C	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon23:c.C2720A:p.S907Y	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.479485816364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371685376	1.37e-06	2.736e-06	0	2.754e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.005902	0.32413	U	0.000000	0.999565	0.47592	D	3.665	0.94315	H	-0.42	0.69536	T	-5.34	0.84674	D	0.8	0.79599	0.513	0.90729	D	0.601	0.85783	D	10	0.8753229	0.86819	D	0.479486	0.94817	D	0.634	0.85975	0.544	0.65731	0.871515061158	0.87026	0.8576798015803253	0.85730	0.709233933603	0.61606	0.858154654503	0.90838	D	0.076533	0.35440	T	0.114594	0.65826	D	-0.0731699	0.65400	T	0.99413001537323	0.85239	D	0.992701	0.97608	D	0.69286644	0.77667	0.790638	0.87685	0.69286644	0.77669	0.790638	0.87686	-11.262	0.81076	D	.	.	0.864	0.80506	P	.	.	4.620996	0.73381	26.0	0.99459485385625368	0.65736	0.95577	0.65277	D	AEFDBHCI	0.734476	0.68059	D	0.818611183482727	0.87256	9.155222	0.678079813945349	0.80719	7.361548	0.999999999102574	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.74	3.74	0.42108	5.838000	0.69097	7.363000	0.58355	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:1.0:0.0:0.0	15.150	0.72373	846	0.36215	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	35	chr19	50459235	.	C	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=859;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.832;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	18	0	1	0
chr19	50656074	50656074	C	T	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon2:c.C92T:p.T31I	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00481809345735	.	0.000199681	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs192383921	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	9.855e-05	0.0012	0.0010	9.495e-05	8.403e-05	0.0002	0	0	0.0021	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0001	8.877e-05	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.007	0.59928	D	0.019	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	1.78	0.46185	L	.	.	.	-2.99	0.62151	D	0.072	0.04547	-1.0245	0.22246	T	0.065	0.26843	T	6	0.05042544	0.04773	T	0.004818	0.12066	T	0.039	0.10176	.	.	0.0297737177859	0.01360	0.18105441395669003	0.18024	.	.	.	.	.	0.100204	0.40576	T	-0.28427	0.10220	T	-0.340134	0.40328	T	0.0554668422867816	0.06435	T	0.540746	0.18332	T	0.11198221	0.26460	0.09572169	0.22714	0.11198221	0.26460	0.09572169	0.22713	-3.529	0.16840	T	.	.	0.102	0.17911	B	.;.	.;.	1.194899	0.15865	12.16	0.99284201508037206	0.58008	0.02916	0.07721	N	AEFDGBI	0.031591	0.03409	N	-0.567711737855326	0.19931	1.04699	-0.679714669811884	0.17469	0.9289861	0.00551029541756363	0.10959	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.35	2.13	0.26445	0.166000	0.16400	-0.019000	0.12951	0.584000	0.30380	0.012000	0.18695	0.000000	0.08366	0.205000	0.22041	0.0:0.7048:0.1896:0.1056	6.162	0.19582	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	33	chr19	50656074	.	C	T	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.206;DP=703;ExcessHet=0;FS=3.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-1.153;SOR=0.288	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr19	50666540	50666540	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C5420T:p.P1807L	.	409	1097	15	1	0	17	0.00768883	.	.	.	729832	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0828293383435	.	0.00139776	0.0036	0.0006	0.0062	0	0.0006	0.0052	0.0029	0.0010	0.0019017	294	154602	rs184259943	0.0024	0.0024	0.0024	0.0024	0.0107	0.0023	0.0023	0.0085	0.0077	0.0007	0.0031	0.0061	0	0.0005	0.0107	0.0025	0.0037	0.0010	0.0023	0.0023	0.0023	0.0024	0.0042	0.0021	0.0021	0.0034	0.0031	0.0003	0	0.0042	0.0061	0	0.0004	0.0374	0.0034	0.0038	0.0002	0.043	0.48186	D	0.179	0.45530	T	0.048	0.22112	B	0.025	0.20508	B	0.967967	0.07760	U	1.021450	1	0.08975	N	0	0.06538	N	1.76	0.37230	T	-1.78	0.42001	N	0.111	0.09772	-0.9954	0.31191	T	0.060	0.24981	T	10	0.0060329437	0.00135	T	0.082829	0.73985	D	0.027	0.05988	.	.	0.110392049598	0.10638	0.1295931873921332	0.12884	0.689654936946	0.60494	0.808962166309	0.83333	D	0.057085	0.30467	T	-0.610511	0.00126	T	-0.653098	0.08739	T	0.00458498317523324	0.00049	T	0.818618	0.47714	T	0.066591606	0.14343	0.087204926	0.20255	0.066591606	0.14343	0.087204926	0.20254	-4.549	0.31652	T	.	.	0.105	0.19235	B	.;.;.;.	.;.;.;.	2.577703	0.33415	19.33	0.9346749744651941	0.23258	0.11106	0.16411	N	AEFDBI	0.088616	0.17964	N	-0.719186940304289	0.15483	0.7806701	-0.7729775213659	0.15159	0.7958415	0.204906714060539	0.18169	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	2.35	1.12	0.19700	0.290000	0.18731	6.601000	0.56056	0.576000	0.29215	0.000000	0.06391	1.000000	0.68203	0.070000	0.16646	0.0:0.0:0.7494:0.2506	7.609	0.27286	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017224	0.026042	0.035326	0.002941	0.000000	0.017544	0.003106	0.000000	0.02632	909.33	36	chr19	50666540	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=736;ExcessHet=0;FS=3.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.269;SOR=1.159	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1175	18	0	1	0
chr19	50667446	50667446	G	T	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C4514A:p.T1505K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0330272156004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.922	0.03004	T	0.0	0.02946	B	0.004	0.10090	B	0.961407	0.08221	U	0.970954	1	0.08975	N	1.1	0.28011	L	1.69	0.39781	T	-0.65	0.26639	N	0.067	0.05162	-0.9877	0.33175	T	0.068	0.27913	T	10	0.05259782	0.05319	T	0.033027	0.54691	D	0.048	0.13305	0.254	0.19378	0.161926535498	0.15789	0.06819523680299046	0.06757	0.815397431955	0.66911	0.904620289803	0.96936	D	0.06194	0.31785	T	-0.302181	0.08455	T	-0.671838	0.07491	T	0.0573816460938374	0.06750	T	0.688631	0.29780	T	0.061618365	0.12779	0.14971885	0.35340	0.061618365	0.12779	0.14971885	0.35339	-4.968	0.36490	T	.	.	0.276	0.51635	B	.;.;.;.	.;.;.;.	0.930014	0.13050	9.556	0.73736508521681143	0.10437	0.00858	0.03416	N	AEFDBI	0.060730	0.11562	N	-1.12936611628493	0.06126	0.2811727	-1.20471840085586	0.05834	0.2790799	0.150212263960954	0.17427	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	1.22	1.22	0.20300	2.248000	0.42812	2.923000	0.35574	0.450000	0.21304	0.057000	0.21666	0.484000	0.25117	0.006000	0.07323	0.0:0.0:0.6238:0.3762	4.565	0.11580	878	0.29785	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	36	chr19	50667446	.	G	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.659;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,103,1175:.	18	0	1	0
chr19	50725114	50725114	-	G	exonic	CLEC11A	.	frameshift insertion	CLEC11A:NM_002975:exon4:c.620dupG:p.G209Rfs*94	.	419	1098	4	1	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00139776	0.0059	0	0	0	0	0.0085	0	0.0056	0.0003074	8	26028	rs562569155	0.0043	0.0041	0.0042	0.0043	0.0047	0.0042	0.0041	0.0046	0.0046	0.0007	0.0012	0.0066	0	0.0028	0.0009	0.0047	0.0041	0.0032	0.0032	0.0032	0.0032	0.0031	0.0048	0.0029	0.0028	0.0044	0.0042	0.0008	0	0.0018	0.0078	0	0.0037	0	0.0048	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001092	0.000000	0.000000	0.000000	0.000000	0.000000	0.006849	0.000000	0.02632	895.29	35	chr19	50725114	.	C	CG	895.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.765;DP=745;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.19;SOR=0.484	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1077	18	0	1	0
chr19	50771465	50771465	A	T	exonic	GPR32	.	nonsynonymous SNV	GPR32:NM_001506:exon1:c.A865T:p.I289F	.	422	1090	10	0	0	10	0.00456621	.	.	.	4142272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0135158602743	.	.	0.0003	0.0002	0.0011	0	0	0.0003	0.0022	0.0002	0.0002652	41	154602	rs200540415	3.629e-05	0.0005	3.27e-05	3.992e-05	0.0002	2.831e-05	2.567e-05	4.907e-05	3.165e-05	0	4.485e-05	7.685e-05	0.0001	0	0.0002	2.7e-05	9.957e-05	8.126e-05	0.0002	0.0006	0.0003	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0.0001	0	0.0007	0.0009	0	0	0.0071	0.0001	0.0014	0	0.47	0.08483	T	0.72	0.05345	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	-0.62	0.71895	T	-0.44	0.14588	N	0.067	0.03956	-1.0085	0.27385	T	0.082	0.32411	T	9	0.02359277	0.00622	T	0.013516	0.32986	T	0.100	0.28662	.	.	0.191931220699	0.18833	0.4418403770200765	0.44101	0.599033245767	0.55049	0.220725059509	0.01352	T	0.010242	0.09261	T	-0.234002	0.16122	T	-0.573904	0.15093	T	0.0200426554432287	0.00705	T	0.30057	0.05631	T	0.03426046	0.03810	0.037491813	0.03413	0.03426046	0.03809	0.037491813	0.03413	-3.393	0.14963	T	.	.	0.122	0.25495	B	.	.	-1.276498	0.00458	0.010	0.84971871269147214	0.15607	0.00704	0.02988	N	AEFGBI	0.024173	0.01454	N	-1.87386027021591	0.00388	0.01669344	-1.92065969197637	0.00445	0.01970853	0.0071927647476123	0.11407	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.41	-4.82	0.02938	-2.592000	0.00972	-5.578000	0.01668	-0.628000	0.04523	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1898:0.3412:0.0:0.4691	3.268	0.06465	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.010101	0.009511	0.014620	0.000000	0.034483	0.003049	0.007576	0.02632	1086.33	33	chr19	50771465	.	A	T	1086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=967;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-11.4;QD=3.27;ReadPosRankSum=-0.306;SOR=0.737	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1392	18	0	1	0
chr19	50771478	50771478	G	A	exonic	GPR32	.	nonsynonymous SNV	GPR32:NM_001506:exon1:c.G878A:p.R293Q	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0250879696031	.	.	7.414e-05	9.61e-05	0.0002	0	0	8.991e-05	0	0	6.5e-06	1	154602	rs746721602	2.054e-05	0.0003	1.634e-05	2.477e-05	5.976e-05	1.457e-05	1.264e-05	1.584e-05	1.151e-05	5.976e-05	0	0	0	1.872e-05	0	2.069e-05	0	4.642e-05	0.0001	0.0006	0.0001	0.0001	0.0004	8.67e-05	7.261e-05	0.0002	0.0001	7.222e-05	0	0.0004	0.0003	0	0	0.0036	8.831e-05	0.0014	0	0.59	0.05808	T	0.611	0.07666	T	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	-0.59	0.71543	T	0.48	0.03041	N	0.021	0.00339	-1.0261	0.21723	T	0.126	0.43112	T	9	0.09293157	0.16405	T	0.025088	0.48071	D	0.097	0.27909	.	.	0.476364732183	0.47263	0.2719274598090293	0.27105	0.432164153585	0.43397	0.177460566163	0.00073	T	0.008391	0.07706	T	-0.21269	0.19002	T	-0.543291	0.17974	T	0.0212880544221406	0.00831	T	0.273273	0.04638	T	0.017954215	0.00318	0.025809059	0.00640	0.017954215	0.00318	0.025809059	0.00640	-3.018	0.10376	T	.	.	0.093	0.14015	B	.	.	0.862598	0.12349	8.889	0.86910214748335657	0.16856	0.01031	0.03865	N	AEFDGBI	0.030313	0.03025	N	-1.38764402018715	0.02753	0.1220154	-1.51046130352902	0.02263	0.1038201	0.136155468026597	0.17185	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.56	-5.12	0.02674	0.450000	0.21475	-2.169000	0.04112	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.323:0.2633:0.2822:0.1315	1.154	0.01682	917	0.20147	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.010101	0.001359	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	798.33	33	chr19	50771478	.	G	A	798.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.33;DP=950;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.88;MQRankSum=-12.29;QD=2.55;ReadPosRankSum=-1.648;SOR=0.847	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1392	18	0	1	0
chr19	50821809	50821809	G	A	exonic	KLK1	.	nonsynonymous SNV	KLK1:NM_002257:exon2:c.C109T:p.P37S	.	406	1111	5	0	0	5	0.00224517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	.	0.00339457	0.0018	0	0	0	0	4.533e-05	0.0011	0.0128	0.0015136	234	154602	rs199590344	0.0008	0.0008	0.0005	0.0011	0.0125	0.0008	0.0007	0.0119	0.0116	8.965e-05	2.237e-05	0	2.519e-05	0	0.0013	2.338e-05	0.0006	0.0125	0.0004	0.0004	0.0002	0.0007	0.0135	0.0003	0.0003	0.0108	0.0099	0	0	0	0	0	0	0	0	0	0.0135	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.245	0.89746	M	1.26	0.36330	T	-7.14	0.94073	D	0.707	0.71055	-0.3693	0.72983	T	0.272	0.64339	T	9	0.017119944	0.00364	T	.	.	.	0.315	0.63694	.	.	0.450733807028	0.44697	0.6879592657207306	0.68735	0.85370292488	0.68666	0.364720463753	0.20070	T	0.75438	0.93295	D	-0.34769	0.04874	T	-0.261821	0.48642	T	0.260695178403435	0.23345	T	0.954105	0.82551	D	0.9229943	0.93540	0.9080287	0.95548	0.9229943	0.93540	0.9080287	0.95549	-10.113	0.74586	D	.	.	0.853	0.79905	P	.	.	4.971620	0.82278	27.8	0.99871572018678301	0.94902	0.84668	0.43753	D	AEFDBI	0.311933	0.41752	N	0.457684260341481	0.64641	4.723226	0.267227424670053	0.53636	3.531539	0.999979353635457	0.50053	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.38	3.38	0.37806	5.786000	0.68654	9.523000	0.80936	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:0.0:1.0:0.0	13.033	0.58261	923	0.18507	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.02632	1132.33	40	chr19	50821809	.	G	A	1132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=733;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.114;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr19	50961768	50961768	C	G	exonic	KLK6	.	nonsynonymous SNV	KLK6:NM_001012965:exon4:c.G237C:p.E79D,KLK6:NM_001319949:exon4:c.G237C:p.E79D,KLK6:NM_001012964:exon5:c.G558C:p.E186D,KLK6:NM_001319948:exon5:c.G237C:p.E79D,KLK6:NM_002774:exon6:c.G558C:p.E186D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0253049027962	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs780618962	2.805e-05	2.805e-05	1.089e-05	4.538e-05	0.0005	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.656e-05	0.0005	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.282	0.15406	T	0.529	0.10138	T	0.0	0.19245	B	0.003	0.21332	B	0.261011	0.15315	N	0.480599	1	0.08975	N	0.105	0.08473	N	-2.44	0.88767	D	-0.94	0.28906	N	0.13	0.12484	-0.5944	0.65044	T	0.407	0.75628	T	10	0.075995445	0.11816	T	0.025305	0.48284	D	0.114	0.32008	0.456	0.52102	0.898879924185	0.89787	0.4690689483471357	0.46825	0.229822010945	0.25536	0.345213413239	0.17215	T	0.232713	0.59934	T	-0.291808	0.09455	T	-0.340782	0.40255	T	0.0376730556855447	0.03274	T	0.916008	0.70013	D	0.25683668	0.48725	0.12668844	0.30509	0.25683668	0.48725	0.12668844	0.30508	-4.58	0.32596	T	.	.	0.178	0.41433	B	.;.;.;.	.;.;.;.	0.907931	0.12819	9.336	0.98886202320422845	0.47912	0.08663	0.14560	N	AEFDBI	0.096000	0.19388	N	-0.874725614092154	0.11446	0.5524101	-0.849639675961514	0.13296	0.6889672	1.81901561811325E-4	0.05844	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.91	1.65	0.23015	0.195000	0.16960	1.335000	0.25696	-0.258000	0.06954	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.6809:0.2041:0.115	5.453	0.15869	912	0.21483	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1050.33	44	chr19	50961768	.	C	G	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.746;DP=733;ExcessHet=0;FS=7.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.162;SOR=1.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	18	0	1	0
chr19	50963514	50963514	C	T	exonic	KLK6	.	nonsynonymous SNV	KLK6:NM_001012964:exon4:c.G233A:p.R78Q,KLK6:NM_002774:exon5:c.G233A:p.R78Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0688856156958	.	.	3.301e-05	0	8.645e-05	0	0	1.503e-05	0	0.0001	3.23e-05	5	154602	rs745929255	1.779e-05	1.779e-05	2.314e-05	1.238e-05	5.974e-05	1.237e-05	1.051e-05	1.012e-05	8.35e-06	5.974e-05	2.236e-05	0	0	0	0	1.619e-05	3.311e-05	3.478e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	4.831e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.237525	0.15784	N	0.469215	1	0.08975	N	0.765	0.19305	N	-2.4	0.88455	D	0.02	0.06739	N	0.202	0.22357	-0.7776	0.56437	T	0.385	0.74032	T	10	0.055615395	0.06108	T	0.068886	0.70575	D	0.150	0.39571	0.354	0.35408	0.735395247976	0.73303	0.3380756461100835	0.33720	0.246615040871	0.27195	0.210929751396	0.00851	T	0.187937	0.54169	T	-0.201451	0.20596	T	-0.430293	0.29901	T	0.0608807918288779	0.07307	T	0.181682	0.01835	T	0.17336223	0.38079	0.10648354	0.25617	0.17336223	0.38079	0.10648354	0.25616	-3.152	0.11903	T	.	.	0.102	0.18622	B	.;.;.	.;.;.	0.801350	0.11722	8.298	0.63656500004438576	0.07282	0.00626	0.02758	N	AEFBI	0.089465	0.18132	N	-1.17578908805927	0.05367	0.244515	-1.14552899252511	0.06849	0.3310625	1.18136720620877E-5	0.02871	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.54	-0.27	0.12287	-0.573000	0.05966	-2.503000	0.03675	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.922000	0.45779	0.1682:0.5111:0.0:0.3207	4.575	0.11621	912	0.21483	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1418.33	34	chr19	50963514	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=718;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.012;SOR=0.848	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	51078155	51078155	T	C	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon6:c.A608G:p.D203G,KLK14:NM_001311182:exon7:c.A608G:p.D203G,KLK14:NM_022046:exon7:c.A608G:p.D203G	.	407	1065	47	3	0	53	0.0242785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.921	.	0.0019	0.00499201	0.0052	0.0009	0.0024	0.0001	0	0.0028	0.0048	0.0242	0.0046959	726	154602	rs201296079	0.0036	0.0036	0.0030	0.0042	0.0225	0.0035	0.0035	0.0217	0.0213	0.0003	0.0014	0.0029	7.557e-05	5.641e-05	0.0090	0.0026	0.0043	0.0225	0.0025	0.0025	0.0024	0.0026	0.0221	0.0023	0.0022	0.0187	0.0174	0.0006	0	0.0012	0.0026	0.0002	0	0	0.0033	0.0005	0.0221	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.994746	0.42399	D	4.5	0.98977	H	-3.72	0.95422	D	-6.24	0.90530	D	0.922	0.92550	1.089	0.99191	D	0.952	0.98439	D	9	0.016272247	0.00343	T	.	.	.	0.921	0.98003	.	.	0.94369331356	0.94310	0.8747409702845038	0.87440	0.725959603611	0.62485	0.735657215118	0.72334	T	0.606604	0.87470	D	0.212188	0.75036	D	0.55027	0.95621	D	0.168831927379693	0.18500	T	0.987126	0.95588	D	0.8242775	0.85510	0.7970734	0.88086	0.8242775	0.85511	0.7970734	0.88087	-14.049	0.93214	D	.	.	0.993	0.94731	P	.;.;.	.;.;.	5.454865	0.91095	32	0.99851691840177914	0.93102	0.95671	0.65664	D	AEFDBI	0.897766	0.84031	D	0.931104314004093	0.93199	11.88361	0.80118972965698	0.89877	10.15895	0.99954531563023	0.40300	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.64	4.64	0.57399	7.698000	0.83519	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	12.032	0.52696	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.011696	0.000000	0.008621	0.018293	0.007576	0.02632	906.33	37	chr19	51078155	.	T	C	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.629;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.479;SOR=0.607	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	51079551	51079551	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C364T:p.R122W,KLK14:NM_001311182:exon5:c.C364T:p.R122W,KLK14:NM_022046:exon5:c.C364T:p.R122W	.	424	1064	34	0	0	34	0.0157262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0075	0.00419329	0.0083	0.0025	0.0072	0.0001	0.0060	0.0102	0.0084	0.0102	0.0079365	1227	154602	rs112658494	0.0100	0.0100	0.0101	0.0099	0.0137	0.0098	0.0098	0.0113	0.0108	0.0018	0.0060	0.0065	5.038e-05	0.0055	0.0137	0.0110	0.0090	0.0107	0.0074	0.0074	0.0077	0.0071	0.0109	0.0071	0.0069	0.0103	0.0100	0.0024	0.0186	0.0074	0.0075	0.0002	0.0046	0.0238	0.0109	0.0109	0.0104	0.338	0.23183	T	0.017	0.60337	D	0.998	0.73220	D	0.929	0.66367	D	.	.	.	.	1	0.08975	N	1.78	0.46185	L	-2.47	0.89293	D	-3.55	0.74051	D	0.411	0.45142	-0.2042	0.77562	T	0.635	0.87226	D	9	0.014386356	0.00303	T	.	.	.	0.220	0.51569	.	.	0.811110782611	0.80934	0.6282621342850477	0.62759	0.596895955248	0.54907	0.476279169321	0.35544	T	0.372321	0.73653	T	-0.357965	0.04246	T	-0.276581	0.47154	T	0.0444715671153752	0.04506	T	0.434357	0.11884	T	0.20042667	0.42018	0.22102161	0.46898	0.20042667	0.42017	0.22102161	0.46897	-6.713	0.51908	T	.	.	0.210	0.43707	B	.;.;.	.;.;.	3.197651	0.43469	21.7	0.99809278564540604	0.89353	0.09311	0.15093	N	AEFDBCI	0.133143	0.25270	N	-0.240936203016391	0.31467	1.764708	-0.480575321267949	0.22688	1.233621	0.00406709125317699	0.10401	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.81	0.678	0.17136	-0.427000	0.07068	.	.	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0928:0.0:0.4488:0.4584	6.656	0.22179	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015136	0.005051	0.017711	0.017544	0.000000	0.000000	0.009202	0.022727	0.05263	2321.83	38	chr19	51079551	.	G	A	2321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=789;ExcessHet=0.119;FS=0.558;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.353;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	17	0	2	0
chr19	51079638	51079638	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C277T:p.R93C,KLK14:NM_001311182:exon5:c.C277T:p.R93C,KLK14:NM_022046:exon5:c.C277T:p.R93C	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	.	0.0071	0.00838658	0.0072	0.0246	0.0086	0	0.0025	0.0058	0.0115	0.0062	0.0043014	665	154602	rs112145183	0.0029	0.0030	0.0028	0.0031	0.0190	0.0029	0.0028	0.0178	0.0173	0.0190	0.0043	0.0032	5.088e-05	0.0020	0.0063	0.0023	0.0049	0.0044	0.0074	0.0074	0.0076	0.0072	0.0171	0.0070	0.0069	0.0160	0.0156	0.0171	0	0.0049	0.0035	0	0.0013	0.0137	0.0040	0.0095	0.0027	0.026	0.46910	D	0.043	0.49942	D	0.999	0.77913	D	0.93	0.66466	D	.	.	.	.	0.642493	0.32889	D	1.54	0.38927	L	-2.44	0.88767	D	-3.59	0.69236	D	0.268	0.30347	-0.0050	0.82153	T	0.368	0.72826	T	9	0.01293987	0.00276	T	.	.	.	0.422	0.73078	.	.	0.902430433393	0.90145	0.7780944457754915	0.77759	0.689168275035	0.60470	0.391560435295	0.23890	T	0.533063	0.83876	D	-0.381316	0.03057	T	-0.305574	0.44132	T	0.0382964345424098	0.03384	T	0.708829	0.31953	T	0.35127887	0.57166	0.32171455	0.58117	0.35127887	0.57166	0.32171455	0.58116	-9.514	0.70946	D	.	.	0.689	0.72503	P	.;.;.	.;.;.	4.780459	0.77484	26.7	0.99889421025040326	0.96359	0.09365	0.15136	N	AEFDBCI	0.086503	0.17538	N	0.104245408592214	0.46660	2.903034	-0.0434936137331627	0.37772	2.216228	6.39416331259149E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.04	0.235	0.14697	-0.255000	0.08789	.	.	0.616000	0.49467	0.000000	0.06391	0.966000	0.29516	0.951000	0.49849	0.1652:0.1632:0.3398:0.3319	1.055	0.01489	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021191	0.061224	0.027174	0.002924	0.000000	0.025862	0.003049	0.003788	0.02632	887.33	38	chr19	51079638	.	G	A	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.055;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-1.595;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	18	0	1	0
chr19	51127285	51127285	T	C	exonic	SIGLEC9	.	nonsynonymous SNV	SIGLEC9:NM_001198558:exon4:c.T1004C:p.V335A,SIGLEC9:NM_014441:exon4:c.T1004C:p.V335A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00408460355583	.	.	0.0001	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs748922424	3.565e-05	3.625e-05	2.045e-05	5.101e-05	0.0006	2.768e-05	2.507e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.659e-05	0.0006	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.78490	D	0.044	0.57104	D	0.542	0.37927	P	0.388	0.44086	B	0.082429	0.20809	N	0.248067	1	0.08975	N	1.89	0.50145	L	2.09	0.20122	T	-1.53	0.37178	N	0.134	0.15046	-1.0561	0.12750	T	0.052	0.22230	T	10	0.06684211	0.09227	T	0.004085	0.09744	T	0.044	0.11924	0.696	0.83313	0.159798565429	0.15598	0.4064126557128737	0.40557	0.263506844727	0.28904	0.288315713406	0.08677	T	0.037755	0.24593	T	-0.428708	0.01509	T	-0.488286	0.23572	T	0.0642520233059357	0.07820	T	0.275872	0.04791	T	0.116416834	0.27458	0.12034492	0.29042	0.116416834	0.27458	0.12034492	0.29041	-7.94	0.60660	D	.	.	0.251	0.55644	B	.;.	.;.	2.457070	0.31646	18.80	0.94199609812416407	0.24433	0.07593	0.13604	N	AEFBI	0.096400	0.19462	N	-0.497739755894014	0.22155	1.180984	-0.657686277354566	0.18023	0.9609715	0.999260050256429	0.38940	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.19	2.19	0.26890	1.589000	0.36253	.	.	0.622000	0.51765	0.005000	0.17040	0.253000	0.23932	0.024000	0.12247	0.0:0.0:0.0:1.0	5.978	0.18621	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	584.33	33	chr19	51127285	.	T	C	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.826;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.7;SOR=0.756	GT:AD:DP:GQ:PL	0/0:31,0:31:84:0,84,1260	18	0	1	0
chr19	51144564	51144564	C	T	exonic	SIGLEC7	.	nonsynonymous SNV	SIGLEC7:NM_014385:exon2:c.C592T:p.R198C	.	.	.	.	.	.	.	.	.	.	.	2375242	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00228904996972	0.0008	.	0.0003	9.641e-05	0.0002	0	0	0.0005	0.0011	0	0.0002199	34	154602	rs144612094	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0.0005	5.038e-05	1.879e-05	0	0.0003	0.0002	6.956e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	4.826e-05	0	0.0003	0.0009	0	0	0	0.0004	0	0	0.113	0.28772	T	0.175	0.29945	T	0.997	0.70673	D	0.726	0.55126	P	0.171557	0.03114	N	1.843930	1	0.08975	N	1.79	0.46772	L	4.09	0.02973	T	-3.74	0.71042	D	0.186	0.20262	-0.9909	0.32373	T	0.016	0.06521	T	10	0.108130485	0.20116	T	0.002289	0.04397	T	0.049	0.13647	.	.	0.218112801441	0.21410	0.1455444933447758	0.14477	0.531955723299	0.50672	0.209319114685	0.00783	T	0.197857	0.55466	T	-0.532161	0.00373	T	-0.678246	0.07091	T	0.089006261282577	0.11098	T	0.236476	0.03296	T	0.062415995	0.13033	0.06612035	0.13500	0.062415995	0.13032	0.06612035	0.13499	-8.267	0.62875	D	.	.	0.131	0.28290	B	.	.	1.857865	0.23599	16.08	0.9945359972133021	0.65427	0.00827	0.03334	N	AEFDGBI	0.071040	0.14126	N	-0.568642961364809	0.19902	1.045267	-0.874221114583482	0.12707	0.6551843	0.999970768494319	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.9	-3.32	0.04663	-0.523000	0.06316	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.359:0.1978:0.2582	0.579	0.00662	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1668.33	45	chr19	51144564	.	C	T	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=941;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.04;SOR=0.605	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	18	0	1	0
chr19	51337343	51337343	C	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon7:c.G2200A:p.V734M	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0535984615257	0.0015	0.000599042	0.0016	0	0	0	0	0.0023	0	0.0015	0.0005175	80	154602	rs201902240	0.0017	0.0017	0.0017	0.0018	0.0042	0.0017	0.0016	0.0029	0.0025	0.0003	0.0004	0.0056	0.0001	0.0005	0.0042	0.0018	0.0014	0.0018	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0002	0.0060	0.0004	0.0003	0.0034	0.0023	0.0009	0.0017	0.017	0.51248	D	0.012	0.63918	D	0.997	0.70673	D	0.791	0.57754	P	0.030603	0.25284	N	0.194660	0.978791	0.25225	N	2.135	0.59519	M	1.96	0.22270	T	-1.02	0.26843	N	0.291	0.32921	-1.0771	0.07922	T	0.079	0.31526	T	10	0.009048849	0.00205	T	0.053598	0.65530	D	0.045	0.12272	.	.	0.0611884634855	0.05136	0.49199537965268514	0.49120	.	.	0.540010452271	0.44446	T	0.014558	0.12369	T	-0.497674	0.00589	T	-0.494127	0.22959	T	0.0125632632847029	0.00209	T	0.715628	0.32820	T	0.05394844	0.10284	0.068334304	0.14257	0.05394844	0.10283	0.068334304	0.14257	-5.951	0.45867	T	.	.	0.237	0.47061	B	.	.	3.065167	0.41183	21.3	0.99814673526703024	0.89797	0.47945	0.28096	N	AEFDBI	0.099837	0.20088	N	0.121476361095564	0.47466	2.971915	0.0178535972260213	0.40544	2.421361	0.982761246064069	0.30451	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.76	3.72	0.41857	1.489000	0.35170	.	.	0.596000	0.33519	0.855000	0.30528	0.994000	0.32194	0.074000	0.16894	0.0:0.8834:0.0:0.1166	8.126	0.30161	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003623	0.000000	0.000000	0.003906	0.000000	0.000000	0.004762	0.000000	0.02632	1704.33	34	chr19	51337343	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=746;ExcessHet=0;FS=1.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.428;SOR=0.906	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1170	18	0	1	0
chr19	51354373	51354373	G	A	exonic	ETFB	.	nonsynonymous SNV	ETFB:NM_001014763:exon1:c.C266T:p.A89V	Glutaric acidemia IIB, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.101679014282	0.0002	.	2.481e-05	9.66e-05	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs143544475	6.157e-06	6.156e-06	6.806e-06	5.501e-06	8.961e-05	2.9e-06	2.1e-06	2.375e-05	1.258e-05	8.961e-05	6.709e-05	0	2.519e-05	0	0	8.993e-07	0	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.544e-05	0	0.0002	0	0	0	0	0	0.526	0.07116	T	0.537	0.09863	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.18198	N	.	.	.	-1.78	0.83737	D	-0.94	0.25118	N	0.06	0.03175	-0.9108	0.46756	T	0.251	0.62096	T	7	0.03958878	0.02461	T	0.101679	0.77470	D	0.141	0.37795	.	.	0.126345400529	0.12197	0.4139327008994937	0.41309	0.219908508843	0.24531	0.390476286411	0.23736	T	.	.	.	-0.35184	0.04612	T	-0.546199	0.17693	T	0.0174009127874513	0.00478	T	0.341666	0.07415	T	.	.	.	.	.	.	.	.	-3.855	0.21629	T	.	.	0.127	0.27131	B	.	.	-0.532862	0.01765	0.134	0.63818474965286753	0.07325	0.00312	0.01649	N	AEFDGBHCI	.	.	.	-1.73018526828149	0.00740	0.03195969	-1.87329315326503	0.00552	0.02449099	0.999999999999962	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	4.49	-8.98	0.00647	-1.745000	0.01930	.	.	-2.535000	0.00252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5027:0.3795:0.1179:0.0	8.449	0.32021	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3951.83	37	chr19	51354373	.	G	A	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=916;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.098;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	17	0	2	0
chr19	51354520	51354520	T	G	exonic	ETFB	.	nonsynonymous SNV	ETFB:NM_001014763:exon1:c.A119C:p.E40A	Glutaric acidemia IIB, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	140929	Multiple_acyl-CoA_dehydrogenase_deficiency|not_specified|ETFB-related_disorder|not_provided	MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680,Orphanet:26791|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.115	0.0527105367646	0.0026	0.000798722	0.0023	0.0006	0.0012	0	0.0057	0.0033	0.0022	0	0.0023997	371	154602	rs143144671	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0051	0.0050	0.0006	0.0012	0.0002	2.519e-05	0.0051	0	0.0052	0.0040	1.159e-05	0.0028	0.0029	0.0027	0.0030	0.0044	0.0026	0.0025	0.0039	0.0038	0.0008	0	0.0028	0.0006	0	0.0056	0	0.0044	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.03	0.07444	N	0.068	0.04072	-0.8814	0.49650	T	0.300	0.67120	T	7	0.0035980046	0.00065	T	0.052711	0.65181	D	0.115	0.32236	.	.	0.285316908763	0.28143	0.2277933875513649	0.22694	0.461824951567	0.45723	0.268920212984	0.06001	T	.	.	.	-0.522517	0.00425	T	-0.521832	0.20110	T	0.00819110162031581	0.00098	T	0.386661	0.09517	T	.	.	.	.	.	.	.	.	-2.661	0.06981	T	.	.	0.106	0.19679	B	.	.	0.580941	0.09496	6.272	0.94220893165826891	0.24470	0.02312	0.06635	N	AEFDBHCI	.	.	.	-1.34724873685732	0.03154	0.1404045	-1.49200437831533	0.02409	0.1107612	0.999999885822986	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.567892	0.33627	0	.	.	2.49	-3.88	0.03927	-0.713000	0.05110	.	.	-0.154000	0.11915	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0:0.1914:0.3562:0.4524	4.122	0.09582	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1364.33	37	chr19	51354520	.	T	G	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.978;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	18	0	1	0
chr19	51382463	51382463	G	A	exonic	LIM2	.	nonsynonymous SNV	LIM2:NM_001161748:exon3:c.C280T:p.R94C,LIM2:NM_030657:exon3:c.C406T:p.R136C	Cataract 19, multiple types, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.2337933412	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs200836752	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	8.646e-05	8.961e-05	2.236e-05	0.0032	5.038e-05	0	0.0005	5.755e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	9.752e-05	8.265e-05	5.846e-05	4.242e-05	7.234e-05	0	0.0001	0.0020	0	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.013	0.76473	D	0.999	0.77913	D	0.855	0.61644	P	0.001797	0.37998	N	0.203119	1	0.81001	D	2.175	0.60977	M	-2.45	0.88847	D	-4.59	0.78891	D	0.744	0.74371	0.599	0.91890	D	0.747	0.91359	D	10	0.42090526	0.56857	T	0.233793	0.88382	D	0.698	0.89099	.	.	0.965000202419	0.96462	0.8569415501937818	0.85657	0.557523331407	0.52367	0.464326828718	0.33903	T	0.957275	0.99425	D	0.126298	0.66998	D	0.180311	0.82014	D	0.847202360630035	0.49926	D	0.861114	0.55479	D	0.105204545	0.24873	0.074559644	0.16323	0.105204545	0.24872	0.074559644	0.16323	-8.881	0.69488	D	0.5699138810161022	0.63714	0.179	0.39012	B	.;.	.;.	4.361194	0.67072	25.0	0.99901036992690184	0.97275	0.79558	0.39446	D	AEFDBI	0.495419	0.53079	N	0.440451622653655	0.63664	4.604513	0.355702294637236	0.58852	4.058482	8.83240879134826E-4	0.07960	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.79	4.79	0.60909	3.264000	0.51256	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.117000	0.19042	0.0:0.0:0.8073:0.1927	10.576	0.44419	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.02632	2117.33	33	chr19	51382463	.	G	A	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=821;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.348;SOR=1.074	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	18	0	1	0
chr19	51389046	51389046	G	C	exonic	C19orf84	.	nonsynonymous SNV	C19orf84:NM_001193623:exon2:c.C499G:p.R167G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122941400881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.227e-07	6.84e-07	0	1.465e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.086634725	0.14747	T	0.012294	0.30730	T	.	.	.	.	0.507867570733	0.50426	0.024241964456794798	0.02375	.	.	.	.	.	0.061567	0.31688	T	-0.403495	0.02196	T	-0.817369	0.01506	T	.	.	.	0.322868	0.06576	T	0.07199786	0.15981	0.082996145	0.18986	0.07199786	0.15981	0.082996145	0.18986	-3.084	0.11113	T	.	.	0.066	0.02228	B	.;.	.;.	-0.009150	0.04221	1.034	0.96114525834641351	0.28754	0.00933	0.03615	N	AEFDBI	0.064445	0.12515	N	.	.	.	.	.	.	0.999590761060133	0.40745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.87	-4.18	0.03584	-1.818000	0.01811	.	.	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.401:0.2145:0.3845	7.893	0.28849	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	34	chr19	51389046	.	G	C	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=905;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.258;SOR=0.854	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1138	18	0	1	0
chr19	51416046	51416046	G	T	exonic	SIGLEC10	.	nonsynonymous SNV	SIGLEC10:NM_001171156:exon5:c.C702A:p.N234K,SIGLEC10:NM_001171157:exon5:c.C876A:p.N292K,SIGLEC10:NM_001171158:exon5:c.C732A:p.N244K,SIGLEC10:NM_001171159:exon5:c.C702A:p.N234K,SIGLEC10:NM_033130:exon5:c.C876A:p.N292K	.	398	1122	2	0	0	2	0.000890472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00864683560462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430669977	2.738e-06	2.736e-06	1.362e-06	4.128e-06	4.64e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.64e-05	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.059	0.40832	T	0.331	0.42976	T	0.082	0.27649	B	0.062	0.27321	B	0.102128	0.19807	N	0.427133	1	0.08975	N	1.24	0.30952	L	1.52	0.44065	T	-1.83	0.46842	N	0.165	0.19728	-1.0164	0.24884	T	0.086	0.33382	T	10	0.18926847	0.34519	T	0.008647	0.22854	T	0.033	0.08068	0.72	0.85496	0.159798565429	0.15598	0.17178904163322486	0.17098	.	.	0.39986038208	0.25048	T	0.093622	0.39250	T	-0.271553	0.11585	T	-0.527213	0.19565	T	0.0568054122904172	0.06656	T	0.270573	0.04555	T	0.14321904	0.32925	0.121260315	0.29258	0.14321904	0.32925	0.121260315	0.29258	-6.542	0.52507	T	.	.	0.340	0.56952	B	.;.;.;.;.;.	.;.;.;.;.;.	1.776950	0.22594	15.68	0.75838327562455143	0.11231	0.05332	0.11185	N	AEFDBI	0.176578	0.30379	N	-1.01045476292951	0.08386	0.3930186	-1.07271472587715	0.08240	0.404295	0.792089730360016	0.24032	0.615465	0.37627	0	0.633656	0.55848	0	0.667716	0.60424	0	0.564101	0.26826	0	.	.	4.37	0.887	0.18335	1.363000	0.33763	.	.	-0.161000	0.11593	0.004000	0.16614	0.396000	0.24688	0.060000	0.15972	0.3069:0.0:0.6931:0.0	7.013	0.24054	976	0.04745	.;.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	36	chr19	51416046	.	G	T	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1399;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.03;MQRankSum=2.36;QD=7.4;ReadPosRankSum=0.48;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	18	0	1	0
chr19	51501505	51501505	C	T	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_053003:exon1:c.G229A:p.A77T	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0003	0.0199681	0.0080	0.0004	0.0006	0.1063	0	0.0002	0.0022	0.0018	0.0073738	1140	154602	rs74354979	0.0026	0.0026	0.0026	0.0027	0.0804	0.0025	0.0025	0.0781	0.0771	0.0003	0.0004	0	0.0804	3.744e-05	0.0010	0.0001	0.0037	0.0025	0.0038	0.0038	0.0032	0.0045	0.0993	0.0036	0.0035	0.0921	0.0893	0.0004	0	0.0005	0	0.0993	0	0	0.0002	0.0010	0.0050	0.027	0.46513	D	0.0	0.92824	D	0.479	0.36725	P	0.038	0.23361	B	.	.	.	.	0.999814	0.20249	N	3.285	0.90273	M	1.89	0.23688	T	-1.01	0.26639	N	0.21	0.23380	-1.0748	0.08390	T	0.001	0.00467	T	9	0.0020873249	0.00030	T	.	.	.	0.137	0.36984	.	.	0.176091768786	0.17195	0.1465111097958243	0.14573	0.249284379594	0.27503	0.503629684448	0.39333	T	0.002922	0.02319	T	-0.58456	0.00181	T	-0.51574	0.20728	T	0.0805273100026417	0.10054	T	0.837116	0.50934	T	0.12478121	0.29268	0.13557287	0.32457	0.12478121	0.29267	0.13557287	0.32456	-7.412	0.56989	T	.	.	0.384	0.58686	A	.	.	2.374540	0.30473	18.45	0.99779872871661157	0.86693	0.30118	0.23999	N	AEFBI	0.055839	0.10275	N	-0.294455986733181	0.29361	1.627585	-0.4375893642286	0.23902	1.306012	0.941282287843291	0.27470	0.487112	0.14033	0	0.541556	0.11502	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.28	1.19	0.20120	0.966000	0.28929	.	.	0.513000	0.23382	1.000000	0.71638	0.992000	0.31684	0.510000	0.29244	0.0:0.8014:0.0:0.1986	4.753	0.12444	907	0.22727	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2160.33	34	chr19	51501505	.	C	T	2160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.446;DP=3589;ExcessHet=0;FS=3.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.13;SOR=0.602	GT:AD:DP:GQ:PL	0/0:224,0:224:99:0,120,1800	18	0	1	0
chr19	51587854	51587854	G	A	exonic	ZNF175	.	nonsynonymous SNV	ZNF175:NM_007147:exon5:c.G1523A:p.C508Y	.	278	1242	2	0	0	2	0.000804505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.0123937457456	.	.	8.258e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs747173349	1.71e-05	1.71e-05	1.089e-05	2.338e-05	0.0003	1.174e-05	9.92e-06	0.0002	0.0001	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.944	0.68059	D	.	.	.	.	0.941988	0.81001	D	3.805	0.95442	H	-2.04	0.85703	D	-9.45	0.98415	D	0.359	0.40063	0.765	0.93973	D	0.794	0.93004	D	9	0.7073883	0.72825	D	0.012394	0.30920	T	0.578	0.82968	0.702	0.83869	0.956658417571	0.95619	0.13001162027430083	0.12926	0.739572658655	0.63175	0.7552703619	0.75226	T	0.386969	0.74800	T	0.00435223	0.52254	T	0.0281543	0.72158	D	0.996057629585266	0.88579	D	0.480052	0.14488	T	0.92535484	0.93774	0.84362096	0.91078	0.92535484	0.93774	0.84362096	0.91079	-13.236	0.90311	D	.	.	0.958	0.87827	P	.	.	4.151438	0.62272	24.4	0.99732603231332839	0.82904	0.21035	0.21258	N	AEFDBHCI	0.892300	0.82910	D	0.717934440363997	0.80809	7.377088	0.519492145729074	0.69303	5.341112	0.999991934377821	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	2.56	2.56	0.29842	8.239000	0.89756	.	.	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	11.264	0.48334	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1035.33	34	chr19	51587854	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.202;SOR=0.795	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr19	51630310	51630310	A	G	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon1:c.T26C:p.L9P,SIGLEC5:NM_001384709:exon1:c.T26C:p.L9P,SIGLEC5:NM_003830:exon1:c.T26C:p.L9P	.	.	.	.	.	.	.	.	.	.	.	2335793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.542	.	.	.	0.0023	0	0	0	.	0	0	0.0455	4.53e-05	7	154602	rs778734174	0.0008	0.0006	0.0008	0.0008	0.0114	0.0008	0.0007	0.0081	0.0070	0.0003	0.0006	0.0023	0	3.43e-05	0.0114	0.0008	0.0013	0.0005	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0009	0.0008	0.0001	0	0.0006	0.0037	0	0.0002	0.0160	0.0011	0	0.0012	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.974	0.73157	D	.	.	.	.	0.997703	0.81001	D	3.335	0.90898	M	0.07	0.61677	T	.	.	.	0.749	0.74826	-0.3709	0.72934	T	0.374	0.73250	T	9	0.010930002	0.00241	T	.	.	.	.	.	0.789	0.91142	0.789146157882	0.78718	0.3248827059025105	0.32401	.	.	0.75994259119	0.75920	T	0.230329	0.59637	T	-0.157573	0.27136	T	-0.0396526	0.67725	D	0.179999564512428	0.19235	T	0.314968	0.06216	T	0.7530996	0.81048	0.7302631	0.84062	0.7530996	0.81050	0.7302631	0.84063	-9.142	0.68606	D	.	.	.	.	.	.	.	4.193550	0.63219	24.6	0.98720113167820978	0.45186	0.84761	0.43849	D	AEFDGBI	0.304384	0.41210	N	0.502157343738515	0.67218	5.052334	0.3790250892986	0.60274	4.213093	0.72629423438121	0.22991	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.06	3.0	0.33773	4.058000	0.57176	.	.	0.650000	0.52971	1.000000	0.71638	0.996000	0.32793	0.990000	0.65344	0.7871:0.0:0.0:0.2129	6.601	0.21895	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007031	0.000000	0.003676	0.010870	0.000000	0.067568	0.000000	0.000000	0.05263	82.8	9	chr19	51630310	.	A	G	82.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.967;DP=109;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0826;MLEAC=2;MLEAF=0.053;MQ=33.41;MQRankSum=0.967;QD=9.2;ReadPosRankSum=0.431;SOR=0.527	GT:AD:DP:GQ:PL	0/0:6,0:6:15:0,15,225	17	0	2	0
chr19	51713887	51713887	C	T	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1274A:p.G425D,HAS1:NM_001523:exon5:c.G1277A:p.G426D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.39281203789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	2.052e-06	0	2.764e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	2.181e-05	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.982	0.60036	D	0.852	0.60758	P	0.000000	0.84330	U	0.000000	0.99995	0.52396	D	2.06	0.56677	M	0.25	0.59449	T	-4.14	0.75220	D	0.913	0.91736	-0.4541	0.70264	T	0.287	0.65928	T	10	0.8995303	0.89312	D	0.392812	0.93226	D	0.428	0.73517	0.724	0.85850	0.627901115463	0.62486	0.62938645662277	0.62872	0.366918505848	0.38257	0.939267992973	0.99428	D	0.684976	0.90787	D	0.137258	0.68063	D	-0.0406145	0.67660	D	0.988392531871796	0.78730	D	0.762924	0.38892	T	0.65957034	0.75876	0.73169345	0.84145	0.65957034	0.75877	0.73169345	0.84146	-2.453	0.05468	T	.	.	0.336	0.58993	B	.;.;.	.;.;.	5.028846	0.83620	28.1	0.9974758192766866	0.84002	0.94773	0.62280	D	AEFDBHCI	0.715504	0.66764	D	0.35380305234336	0.58940	4.069579	0.258503214243818	0.53133	3.48393	0.999999854184145	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.19	3.19	0.35720	7.688000	0.83438	.	.	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	12.275	0.54051	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1384.33	38	chr19	51713887	.	C	T	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=854;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.548;SOR=0.62	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr19	51890739	51890739	G	A	exonic	ZNF649	.	nonsynonymous SNV	ZNF649:NM_023074:exon5:c.C1397T:p.P466L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00328313446691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999999	0.08975	N	0.785	0.19527	N	3.38	0.05918	T	-4.42	0.77470	D	0.061	0.07535	-1.0347	0.18951	T	0.029	0.12541	T	9	0.16709301	0.31183	T	0.003283	0.07268	T	0.035	0.08770	0.258	0.20002	0.23798241625	0.23396	0.04017163611429551	0.03963	0.194306989748	0.21767	0.228492349386	0.01859	T	0.052425	0.33341	T	-0.256318	0.13334	T	-0.60596	0.12315	T	0.412366962208315	0.29406	T	0.270873	0.04565	T	0.088271886	0.20586	0.12097957	0.29193	0.088271886	0.20586	0.12097957	0.29192	-3.056	0.10798	T	.	.	0.085	0.10256	B	.;.	.;.	1.395416	0.18086	13.54	0.88144339166060603	0.17749	0.00016	0.00195	N	AEFBCI	0.042588	0.06627	N	-0.333324040246619	0.27890	1.533817	-0.581644662564672	0.19971	1.073958	6.55146326171207E-4	0.07551	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.03	2.03	0.25714	-0.352000	0.07750	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.3426:0.0:0.6574:0.0	4.003	0.09076	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	258	chr19	51890739	.	G	A	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=885;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.193;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	18	0	1	0
chr19	52016507	52016507	G	A	exonic	ZNF614	.	nonsynonymous SNV	ZNF614:NM_025040:exon5:c.C1091T:p.T364I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.000698247110904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.259	0.23097	T	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	1	0.08975	N	0.13	0.08652	N	2.66	0.12575	T	-4.73	0.80085	D	0.088	0.06587	-1.0519	0.13872	T	0.034	0.14596	T	9	0.24871445	0.42172	T	6.98E-4	0.00435	T	0.190	0.46781	0.479	0.55823	0.427139414373	0.42328	0.022337320222243565	0.02185	0.603633865928	0.55333	0.543269991875	0.44907	T	0.055808	0.30109	T	-0.149071	0.28458	T	-0.451906	0.27487	T	0.848348736763	0.50023	D	0.361264	0.08331	T	0.16427074	0.36623	0.23762372	0.49064	0.16427074	0.36623	0.23762372	0.49063	-5.658	0.43318	T	.	.	0.443	0.61842	A	.	.	2.885708	0.38205	20.7	0.99819938450512558	0.90326	0.00200	0.01150	N	AEFBCI	0.039683	0.05799	N	-0.0662150739336025	0.38881	2.284124	-0.0939042546559885	0.35642	2.06446	0.0182562603588857	0.13038	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.8	2.69	0.30923	1.303000	0.33075	.	.	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.119:0.0:0.881:0.0	10.340	0.43053	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1990.33	41	chr19	52016507	.	G	A	1990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.723;DP=1377;ExcessHet=0;FS=3.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.188;SOR=1.002	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	18	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.05263	2541.83	35	chr19	52115218	.	C	T	2541.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.07;DP=819;ExcessHet=0.119;FS=0.504;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.683;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	17	0	2	0
chr19	52116724	52116724	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G440A:p.R147H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2338576	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.000683238555942	0.0003	.	0.0002	0	8.64e-05	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs143649418	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	2.987e-05	8.944e-05	0	0	1.873e-05	0.0002	0.0004	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0	0.0003	0	0	.	.	.	0.995	0.02336	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	2.51	0.14284	T	.	.	.	0.018	0.00252	-0.9995	0.30058	T	0.016	0.06425	T	8	0.022433788	0.00560	T	6.83E-4	0.00400	T	.	.	.	.	0.0884992946249	0.08302	0.02511800881417815	0.02462	0.0787164710794	0.08858	0.205152213573	0.00622	T	0.002309	0.01710	T	-0.589778	0.00168	T	-0.78323	0.02357	T	0.00516877187200962	0.00056	T	0.0661934	0.00482	T	0.009218272	0.00002	0.02545838	0.00591	0.009218272	0.00002	0.02545838	0.00591	-2.054	0.03392	T	.	.	0.082	0.08657	B	.	.	-0.771930	0.01163	0.055	0.055863034064743085	0.00013	0.00002	0.00064	N	AEFGBCI	0.019420	0.00672	N	-1.68708581261934	0.00889	0.03845319	-1.71431756540191	0.01075	0.04828784	0.00321611007266555	0.09995	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.64	-2.76	0.05547	-0.141000	0.10308	.	.	-1.031000	0.01692	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2241:0.3467:0.0:0.4293	2.756	0.04967	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2790.33	40	chr19	52116724	.	C	T	2790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=980;ExcessHet=0;FS=1.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.053;SOR=0.738	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	18	0	1	0
chr19	52157309	52157309	C	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G374A:p.G125D	.	458	1063	1	0	0	1	0.000470146	.	.	.	3358408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.000750878151022	.	.	0.0001	0	0	0	0	0	0.0012	0.0009	0.0001035	16	154602	rs757305341	6.405e-05	6.567e-05	3.97e-05	8.87e-05	0.0010	5.33e-05	4.944e-05	0.0008	0.0008	0	0	0	0	0	0	3.611e-06	6.672e-05	0.0010	3.941e-05	3.938e-05	3.856e-05	4.03e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	0	0.0005	0.0008	1.0	0.00964	T	0.792	0.04737	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	3.4	0.05642	T	2.66	0.00198	N	0.117	0.10626	-0.9052	0.47424	T	0.005	0.01833	T	9	0.013304234	0.00283	T	7.51E-4	0.00529	T	0.010	0.01040	0.249	0.18602	0.0297737177859	0.01360	0.02076515007273998	0.02029	0.240595438909	0.26601	0.238093167543	0.02621	T	0.002216	0.01614	T	-0.691425	0.00041	T	-0.822309	0.01406	T	0.0180319056715601	0.00527	T	0.0768923	0.00566	T	0.03334872	0.03535	0.06520972	0.13185	0.03334872	0.03535	0.06520972	0.13184	-2.507	0.05829	T	.	.	0.071	0.06479	B	.;.	.;.	-0.425290	0.02119	0.201	0.10298443916016528	0.00126	0.00208	0.01187	N	AEFBI	0.026613	0.02029	N	-1.61869586045018	0.01174	0.05103155	-1.62286297079353	0.01522	0.06892931	3.2179968883664E-4	0.06540	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	2.34	-1.22	0.09005	-1.318000	0.02813	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5472:0.0:0.4528	5.740	0.17360	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	89	chr19	52157309	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.291;DP=967;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.462;SOR=0.582	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	18	0	1	0
chr19	52354323	52354323	A	G	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161425:exon5:c.A263G:p.Q88R,ZNF610:NM_001161426:exon5:c.A263G:p.Q88R,ZNF610:NM_173530:exon5:c.A263G:p.Q88R	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00259585	0.0013	9.835e-05	0.0003	0.0001	0	1.501e-05	0	0.0092	0.001119	173	154602	rs564330784	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	4.472e-05	0	0	0	0.0005	1.799e-06	0.0008	0.0089	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	1.47e-05	0	0.0101	0.377	0.11298	T	0.376	0.16182	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.105	0.08473	N	3.46	0.05249	T	-0.98	0.25986	N	0.039	0.01274	-0.9522	0.40590	T	0.012	0.04795	T	9	0.0052702725	0.00115	T	.	.	.	0.041	0.10877	0.398	0.42590	0.447311733946	0.44353	0.022283420393354177	0.02180	0.157742065919	0.17814	0.239167928696	0.02716	T	0.013662	0.11777	T	-0.682408	0.00046	T	-0.745332	0.03670	T	0.00542289244809195	0.00059	T	0.378962	0.09121	T	0.030873697	0.02826	0.048202086	0.07109	0.030873697	0.02826	0.048202086	0.07108	-5.582	0.42628	T	.	.	0.093	0.14062	B	.;.;.;.	.;.;.;.	-0.212962	0.03024	0.462	0.89893421168661736	0.19195	0.02836	0.07583	N	AEFBI	0.026808	0.02078	N	-1.03241794101532	0.07937	0.370437	-1.11557782071327	0.07402	0.3599191	1.87823081456849E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	1.37	1.37	0.21200	0.715000	0.25493	.	.	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.877	0.13021	988	0.01987	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1235.33	33	chr19	52354323	.	A	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.933;DP=751;ExcessHet=0;FS=2.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.587;SOR=0.486	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1190	18	0	1	0
chr19	52384793	52384793	G	A	exonic	ZNF880	.	nonsynonymous SNV	ZNF880:NM_001145434:exon4:c.G1213A:p.E405K	.	361	1160	1	0	0	1	0.000430849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00409204635013	.	0.000199681	0.0001	0	0	0	0	4.816e-05	0	0.0007	9.06e-05	14	154602	rs578235914	4.18e-05	4.379e-05	3.273e-05	5.097e-05	0.0005	3.316e-05	3.006e-05	0.0004	0.0003	0	4.485e-05	0	0	0	0.0002	1.261e-05	4.977e-05	0.0005	3.291e-05	3.939e-05	2.575e-05	4.04e-05	0.0006	1.263e-05	7.99e-06	0.0002	9.067e-05	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0006	0.007	0.59928	D	0.003	0.76473	D	1.0	0.90584	D	0.98	0.74843	D	.	.	.	.	0.98923	0.24320	N	0.555	0.15161	N	1.86	0.24285	T	-3.55	0.68764	D	0.153	0.15749	-1.0720	0.08979	T	0.095	0.35924	T	8	0.079221845	0.12718	T	0.004092	0.09775	T	0.132	0.35948	0.52	0.62217	0.170165803431	0.16609	0.020705590348686173	0.02023	0.209180828777	0.23389	0.348698347807	0.17731	T	0.037734	0.24586	T	-0.431473	0.01452	T	-0.500074	0.22340	T	0.525570392608643	0.33570	D	0.540346	0.18307	T	0.22982246	0.45726	0.19402824	0.43004	0.22982246	0.45726	0.19402824	0.43003	-7.006	0.54077	T	.	.	0.243	0.47719	B	.	.	2.488735	0.32106	18.94	0.99803070115193804	0.88728	0.70421	0.34583	D	AEFBCI	0.213959	0.33948	N	-0.00961297138628488	0.41418	2.477131	-0.195816859079988	0.31689	1.795814	0.015829002922556	0.12759	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.84	1.84	0.24348	2.382000	0.43999	.	.	0.552000	0.28158	0.780000	0.29473	0.000000	0.08366	0.080000	0.17246	0.0:0.269:0.731:0.0	7.561	0.27020	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	137	chr19	52384793	.	G	A	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=1591;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.577;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:114:99:.:.:0,120,1800:.	18	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7478.95	112	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	7478.95	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1482;ExcessHet=8.9063;FS=89.324;InbreedingCoeff=-0.4309;MLEAC=1;MLEAF=0.026;MQ=58.21;MQRankSum=-1.732;QD=10.33;ReadPosRankSum=0.237;SOR=6.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	18	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC:p.K415_R577delinsS	.	0	147	6	0	73	79	0.02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0066	0.0030	0.0040	0.0144	0.0034	0.0034	0.0137	0.0134	0.0042	0.0058	0.0055	0.0048	0.0038	0.0036	0.0024	0.0048	0.0144	0.0019	0.0029	0.0019	0.0018	0.0024	0.0017	0.0016	0.0018	0.0017	0.0017	0	0.0024	0.0031	0.0010	0.0011	0	0.0021	0.0005	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC	3948.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	17	0	2	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3948.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=3;MLEAF=0.079;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	16	0	3	0
chr19	52384822	52384822	-	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1242_1243insATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415Mfs*11	.	493	994	8	0	27	35	0.00400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0006	0	0.0002	0	0.0001	3.84e-05	1	26028	rs773157264	0.0013	0.0029	0.0013	0.0014	0.0027	0.0013	0.0012	0.0020	0.0019	0.0016	0.0014	0.0030	0.0025	0.0026	0.0027	0.0012	0.0024	0.0006	0.0056	0.0093	0.0068	0.0044	0.0079	0.0052	0.0050	0.0059	0.0056	0.0046	0.0065	0.0058	0.0047	0.0036	0.0043	0.0104	0.0066	0.0044	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	462.83	119	chr19	52384822	.	C	CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	462.83	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.14;DP=1252;ExcessHet=0;FS=11.168;InbreedingCoeff=-0.1871;MLEAC=2;MLEAF=0.111;MQ=56.82;MQRankSum=-3.232;QD=12.18;ReadPosRankSum=-1.712;SOR=3.219	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:97,0:97:0:.:.:0,0,2225:.	8	0	1	10
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	57.62	118	chr19	52384824	.	A	AGGTC	57.62	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.96;DP=1251;ExcessHet=0;FS=11.65;InbreedingCoeff=-0.2063;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=-2.156;SOR=3.3	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:94,0:94:0:.:.:0,0,2206:.	7	0	1	11
chr19	52415911	52415911	C	G	exonic	ZNF528	.	stopgain	ZNF528:NM_032423:exon7:c.C1059G:p.Y353X	.	.	.	.	.	.	.	.	.	.	.	728390	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0055	0.00599042	0.0016	0.0188	0.0003	0	0	0	0	0	0.0015071	233	154602	rs116544786	0.0005	0.0005	0.0006	0.0004	0.0182	0.0004	0.0004	0.0170	0.0165	0.0182	0.0005	0	0	0	0.0002	3.597e-06	0.0009	2.319e-05	0.0049	0.0049	0.0051	0.0046	0.0174	0.0046	0.0045	0.0163	0.0159	0.0174	0	0.0010	0	0	0	0	5.881e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.016	0.00203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185745	0.54188	T	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	6.358374	0.95077	34	0.99229394320703201	0.56183	0.13207	0.17725	N	AEFBCI	0.042955	0.06730	N	0.00285081020669625	0.41985	2.52128	-0.36009312436599	0.26198	1.445508	8.83445231382706E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	2.08	-0.182	0.12635	-1.007000	0.03777	.	.	-0.365000	0.05478	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.7146:0.0:0.2854	7.140	0.24727	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	657.33	34	chr19	52415911	.	C	G	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=780;ExcessHet=0;FS=2.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.166;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1187	18	0	1	0
chr19	52416068	52416068	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1216A:p.E406K	.	421	1099	2	0	0	2	0.000909091	.	.	.	716664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0111	0.00978435	0.0031	0.0336	0.0021	0	0	0.0001	0.0056	0	0.0029689	459	154602	rs61997201	0.0010	0.0010	0.0011	0.0009	0.0322	0.0009	0.0009	0.0306	0.0299	0.0322	0.0026	0	0	0	0.0043	4.946e-05	0.0020	0.0001	0.0092	0.0092	0.0094	0.0090	0.0318	0.0088	0.0086	0.0303	0.0298	0.0318	0.0088	0.0039	0	0	0	0.0034	4.41e-05	0.0057	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.66	0.42513	L	1.86	0.24285	T	-3.36	0.66549	D	0.136	0.13341	-1.0319	0.19841	T	0.031	0.13286	T	9	0.004878819	0.00104	T	.	.	.	0.203	0.48915	.	.	0.511907979761	0.50829	0.013010611711278805	0.01259	0.0590495618008	0.06558	0.347129583359	0.17499	T	0.115285	0.43376	T	-0.55737	0.00263	T	-0.547638	0.17553	T	0.0241147925947462	0.01159	T	0.540346	0.18307	T	0.2723458	0.50304	0.3510622	0.60706	0.2723458	0.50304	0.3510622	0.60706	-7.11	0.54832	T	.	.	0.475	0.63409	A	.	.	2.636881	0.34303	19.59	0.99767413990791265	0.85583	0.51027	0.28800	D	AEFBCI	0.318172	0.42195	N	0.052805968092687	0.44271	2.704252	-0.157686899341948	0.33113	1.89083	0.781812715402645	0.23857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.615788	0.45269	1	.	.	2.08	2.08	0.26079	3.073000	0.49755	.	.	0.564000	0.28548	0.908000	0.31627	0.000000	0.08366	0.128000	0.19490	0.0:0.0:1.0:0.0	11.173	0.47808	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.015152	0.014946	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1459.33	34	chr19	52416068	.	G	A	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-1.946;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1187	18	0	1	0
chr19	52511499	52511499	G	A	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.G1118A:p.C373Y,ZNF578:NM_001366182:exon6:c.G1118A:p.C373Y	.	401	1099	20	2	0	24	0.0108011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.00648032460964	0.0066	0.00279553	0.0051	0.0007	0.0048	0	0.0021	0.0077	0.0066	0.0010	0.0050129	775	154602	rs61739625	0.0059	0.0059	0.0061	0.0058	0.0151	0.0058	0.0058	0.0125	0.0116	0.0010	0.0060	0.0077	2.52e-05	0.0026	0.0151	0.0067	0.0065	0.0012	0.0050	0.0050	0.0051	0.0049	0.0076	0.0047	0.0046	0.0071	0.0068	0.0011	0	0.0071	0.0069	0	0.0031	0.0068	0.0076	0.0118	0.0002	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.78334	0.29308	N	3.765	0.95136	H	-1.94	0.84919	D	.	.	.	0.124	0.11626	-0.2875	0.75334	T	0.412	0.76034	T	7	0.0049572885	0.00106	T	0.00648	0.17072	T	.	.	.	.	0.511105228888	0.50752	0.12709765561083033	0.12635	0.184370431722	0.20736	.	.	.	0.335828	0.70541	T	-0.307401	0.07979	T	-0.209209	0.53771	T	0.0778360219089476	0.09707	T	0.358764	0.08201	T	0.75347954	0.81070	0.6179076	0.77751	0.75347954	0.81072	0.6179076	0.77752	-10.833	0.78734	D	.	.	0.764	0.75643	P	.	.	2.600484	0.33751	19.43	0.94695546829914379	0.25343	0.96828	0.71158	D	AEFBI	0.609831	0.59889	D	0.303026770798373	0.56304	3.794896	-0.0042566772121187	0.39524	2.344654	0.389152783431423	0.20030	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	1.48	1.48	0.21900	4.772000	0.62019	.	.	0.548000	0.25860	0.999000	0.42656	0.000000	0.08366	0.163000	0.20749	0.0:0.0:1.0:0.0	10.046	0.41359	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.020202	0.013587	0.004098	0.000000	0.017241	0.012195	0.007576	0.02632	6021.33	163	chr19	52511499	.	G	A	6021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.018;DP=2542;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=-0.896;QD=19.74;ReadPosRankSum=0.364;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,168:305:99:0|1:52511499_G_A:6035,0,4841:52511499	18	0	1	0
chr19	52582831	52582831	C	T	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.C772T:p.L258F,ZNF701:NM_001172655:exon5:c.C970T:p.L324F	.	.	.	.	.	.	.	.	.	.	.	2256963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00402974244337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs561925183	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.045	0.44358	D	0.062	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.265	0.31966	L	2.9	0.10101	T	-3.46	0.68178	D	0.22	0.26957	-1.1003	0.04055	T	0.063	0.26279	T	9	0.4455901	0.58375	T	0.00403	0.09587	T	0.084	0.24469	0.764	0.89213	0.265010934533	0.26120	0.022585432950168988	0.02210	0.268949311716	0.29407	0.295427501202	0.09720	T	0.222931	0.58693	T	-0.233045	0.16248	T	-0.57253	0.15218	T	0.719521211542222	0.41674	D	0.039696	0.00287	T	0.15262745	0.34638	0.1600704	0.37302	0.15262745	0.34638	0.1600704	0.37301	-6.643	0.51380	T	.	.	0.501	0.68433	A	.;.;.	.;.;.	2.003927	0.25460	16.77	0.9954601218154695	0.70836	0.07249	0.13273	N	AEFDBI	0.040213	0.05950	N	-0.225855923653461	0.32075	1.805144	-0.52139976701089	0.21573	1.16763	0.00254755439286046	0.09519	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.48	1.48	0.21900	0.811000	0.26855	.	.	0.401000	0.20554	0.015000	0.19116	0.000000	0.08366	0.006000	0.07323	0.0:1.0:0.0:0.0	9.941	0.40750	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3803.33	207	chr19	52582831	.	C	T	3803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=3143;ExcessHet=0;FS=4.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.291;SOR=0.682	GT:AD:DP:GQ:PL	0/0:157,0:157:99:0,120,1800	18	0	1	0
chr19	52583152	52583152	C	T	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.C1093T:p.R365C,ZNF701:NM_001172655:exon5:c.C1291T:p.R431C	.	406	1111	5	0	0	5	0.00224517	.	.	.	3642306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00164060875435	7.7e-05	0.000199681	0.0002	0.0002	0	0.0002	0	0.0001	0.0011	0.0009	0.0001876	29	154602	rs368856235	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	5.975e-05	2.236e-05	0	0.0002	1.872e-05	0.0010	0.0001	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0002	0.0001	0	6.547e-05	0	0.0010	0	0	0.0002	0	0.0008	0.204	0.23631	T	0.203	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.53	0.38800	L	3.18	0.07478	T	-1.63	0.39119	N	0.133	0.12913	-1.0196	0.23845	T	0.026	0.11131	T	9	0.024012655	0.00646	T	0.001641	0.02676	T	0.020	0.03691	.	.	0.115124310173	0.11017	0.031547856286475856	0.03103	0.247308602745	0.27277	0.270763903856	0.06241	T	0.056707	0.30362	T	-0.629966	0.00096	T	-0.755666	0.03270	T	0.0419306411651508	0.04043	T	0.166283	0.01566	T	0.0648357	0.13796	0.044626057	0.05823	0.0648357	0.13796	0.044626057	0.05823	-5.128	0.38450	T	.	.	0.395	0.63632	A	.;.;.	.;.;.	0.377535	0.07495	4.139	0.97927292310266356	0.36928	0.00397	0.01986	N	AEFGBI	0.045348	0.07407	N	-1.16957599007073	0.05465	0.2492175	-1.36845156938384	0.03593	0.1679146	2.80630400948557E-4	0.06300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.87	-0.797	0.10358	-7.242000	0.00051	.	.	-2.839000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2115:0.652:0.0:0.1365	4.655	0.12000	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001058	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2282.33	93	chr19	52583152	.	C	T	2282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=2638;ExcessHet=0;FS=2.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.73;MQRankSum=-2.601;QD=11.76;ReadPosRankSum=2.31;SOR=0.531	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	18	0	1	0
chr19	52583233	52583233	G	A	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.G1174A:p.V392I,ZNF701:NM_001172655:exon5:c.G1372A:p.V458I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000653263709224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.13971	T	0.483	0.11795	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.395	0.12235	N	2.99	0.09262	T	-0.15	0.09297	N	0.038	0.01203	-0.9330	0.43695	T	0.015	0.06042	T	9	0.056803256	0.06426	T	6.53E-4	0.00350	T	0.035	0.08770	0.425	0.47021	0.181679512989	0.17746	0.008188615138779115	0.00783	0.0390701221606	0.04159	0.27809971571	0.07229	T	7.1E-4	0.00326	T	-0.411855	0.01932	T	-0.829378	0.01273	T	0.131381229163854	0.15509	T	0.278072	0.07307	T	0.02005273	0.00550	0.024400003	0.00459	0.02005273	0.00550	0.024400003	0.00459	-0.797	0.00801	T	.	.	0.112	0.23325	B	.;.;.	.;.;.	-0.998777	0.00773	0.025	0.39062339791253481	0.02673	0.00033	0.00296	N	AEFBI	0.012580	0.00141	N	-1.62113274388338	0.01163	0.05053026	-1.75144354877127	0.00928	0.04151328	0.0154967651567951	0.12720	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.91	-3.83	0.03988	-7.806000	0.00038	.	.	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3414:0.1387:0.2473:0.2726	0.284	0.00232	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1878.33	93	chr19	52583233	.	G	A	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.816;DP=2389;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.82;MQRankSum=-1.843;QD=14.02;ReadPosRankSum=0.12;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:153,0:153:99:.:.:0,120,1800:.	18	0	1	0
chr19	52613160	52613160	G	A	exonic	ZNF83	.	nonsynonymous SNV	ZNF83:NM_001277951:exon3:c.C1405T:p.R469C,ZNF83:NM_018300:exon3:c.C1405T:p.R469C,ZNF83:NM_001105552:exon4:c.C1405T:p.R469C,ZNF83:NM_001277946:exon4:c.C1405T:p.R469C,ZNF83:NM_001348016:exon4:c.C1405T:p.R469C,ZNF83:NM_001105550:exon5:c.C1405T:p.R469C,ZNF83:NM_001105551:exon5:c.C1405T:p.R469C,ZNF83:NM_001277948:exon5:c.C1405T:p.R469C,ZNF83:NM_001277949:exon5:c.C1405T:p.R469C,ZNF83:NM_001277952:exon5:c.C1405T:p.R469C,ZNF83:NM_001105549:exon6:c.C1405T:p.R469C,ZNF83:NM_001277945:exon6:c.C1405T:p.R469C,ZNF83:NM_001277947:exon6:c.C1405T:p.R469C,ZNF83:NM_001348018:exon6:c.C1405T:p.R469C,ZNF83:NM_001348015:exon7:c.C1405T:p.R469C,ZNF83:NM_001348017:exon7:c.C1405T:p.R469C,ZNF83:NM_001348019:exon7:c.C1405T:p.R469C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056669528179	.	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs571856338	1.095e-05	1.094e-05	1.361e-05	8.252e-06	5.975e-05	6.48e-06	5.24e-06	9.9e-06	3.7e-06	5.975e-05	2.238e-05	0	0	0	0	8.994e-06	4.968e-05	0	5.296e-05	5.269e-05	5.178e-05	5.42e-05	0.0002	2.574e-05	1.842e-05	9.629e-05	7.008e-05	0.0002	0	0	0	0	0	0	0	0	0	0.314	0.13834	T	0.166	0.30828	T	0.998	0.73220	D	0.588	0.50402	P	.	.	.	.	1	0.08975	N	1.035	0.25616	L	1.55	0.29866	T	-1.89	0.44094	N	0.07	0.08227	-1.0740	0.08556	T	0.075	0.30055	T	9	0.07459533	0.11421	T	0.005667	0.14681	T	0.020	0.03691	.	.	0.0920862733494	0.08535	0.023818780567737338	0.02332	0.127965630687	0.14428	.	.	.	0.026187	0.19430	T	-0.516844	0.00459	T	-0.700752	0.05784	T	0.0278044023908634	0.01659	T	0.20228	0.02325	T	0.0379109	0.04951	0.031820226	0.01825	0.0379109	0.04951	0.031820226	0.01825	-6.024	0.46480	T	.	.	0.265	0.49922	B	.;.;.;.;.	.;.;.;.;.	0.498641	0.08677	5.449	0.97401092545364965	0.33775	0.01896	0.05817	N	AEFGBCI	0.040358	0.05992	N	-1.17492210835473	0.05381	0.2451717	-1.42300022151343	0.03023	0.1402449	0.00145537947931807	0.08551	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	1.97	-3.94	0.03856	-1.842000	0.01775	.	.	-5.762000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2474:0.0:0.17:0.5826	4.097	0.09470	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2344.33	34	chr19	52613160	.	G	A	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=836;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.295;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1458	18	0	1	0
chr19	52705335	52705335	T	G	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1720C:p.T574P,ZNF611:NM_001161501:exon5:c.A1513C:p.T505P,ZNF611:NM_001161499:exon6:c.A1720C:p.T574P,ZNF611:NM_030972:exon7:c.A1720C:p.T574P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00153046048394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.039	0.51112	D	0.979	0.59044	D	0.864	0.61462	P	.	.	.	.	0.999868	0.20482	N	1.57	0.39626	L	2.03	0.20959	T	-2.83	0.60827	D	0.121	0.11912	-1.0399	0.17343	T	0.086	0.33382	T	9	0.18418834	0.33780	T	0.00153	0.02394	T	0.032	0.07718	0.552	0.66856	0.401185642668	0.39728	0.04650909371637888	0.04594	0.148407807486	0.16736	0.325351119041	0.14231	T	0.005383	0.04831	T	-0.282945	0.10358	T	-0.644207	0.09365	T	0.344055903066055	0.26784	T	0.20278	0.02336	T	0.25133687	0.48141	0.3721436	0.62429	0.25133687	0.48141	0.3721436	0.62429	-6.913	0.53395	T	.	.	0.570	0.67639	P	.;.;.;.;.;.	.;.;.;.;.;.	1.103333	0.14878	11.40	0.84847759576342241	0.15533	0.14817	0.18600	N	AEFBI	0.218124	0.34316	N	-0.49034176140995	0.22397	1.195614	-0.813926895229683	0.14158	0.7383548	1.18263356229515E-5	0.02871	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.58	-1.16	0.09181	-1.929000	0.01650	.	.	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2889:0.0:0.7111	5.469	0.15955	923	0.18507	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5420.33	68	chr19	52705335	.	T	G	5420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.48;DP=1338;ExcessHet=0;FS=0.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.366;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1189	18	0	1	0
chr19	52706036	52706036	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1019G:p.E340G,ZNF611:NM_001161501:exon5:c.A812G:p.E271G,ZNF611:NM_001161499:exon6:c.A1019G:p.E340G,ZNF611:NM_030972:exon7:c.A1019G:p.E340G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0057	0.00539137	0.0017	0.0187	0.0006	0	0	2.999e-05	0	0	0.0015977	247	154602	rs4087790	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0160	0.0176	0.0011	0	0	0	0.0009	1.799e-05	0.0010	1.159e-05	0.0049	0.0049	0.0051	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0024	0	0	0	0	2.94e-05	0.0033	0	0.0	0.91255	D	0.017	0.60337	D	0.752	0.43309	P	0.561	0.49582	P	.	.	.	.	0.995968	0.23152	N	2.395	0.69210	M	2.08	0.20255	T	-5.56	0.86296	D	0.132	0.13484	-1.0485	0.14818	T	0.046	0.19800	T	9	0.003975421	0.00077	T	.	.	.	0.060	0.17295	.	.	0.501060295512	0.49743	0.014385139974164988	0.01395	0.134211828644	0.15117	0.253722727299	0.04170	T	0.036139	0.23989	T	-0.524525	0.00414	T	-0.511284	0.21183	T	0.139155205949128	0.16202	T	0.10049	0.00746	T	0.1753298	0.38386	0.22448131	0.47361	0.1753298	0.38386	0.22448131	0.47360	-6.898	0.53284	T	.	.	0.113	0.22282	B	.;.;.;.;.;.	.;.;.;.;.;.	2.162928	0.27555	17.50	0.97220792762563935	0.32901	0.24888	0.22532	N	AEFBCI	0.249267	0.36953	N	-0.323688471262654	0.28251	1.556671	-0.587952893062773	0.19806	1.064351	0.0026259405185001	0.09584	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.53	1.53	0.22224	3.105000	0.50005	.	.	0.361000	0.20101	0.164000	0.23853	0.000000	0.08366	0.002000	0.04165	0.2686:0.0:0.0:0.7314	4.946	0.13341	923	0.18507	.;Zinc finger C2H2-type;Zinc finger C2H2-type;.;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3588.33	68	chr19	52706036	.	T	C	3588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.678;DP=1293;ExcessHet=0;FS=4.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.37;SOR=0.493	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1189	18	0	1	0
chr19	52706746	52706747	GA	-	exonic	ZNF611	.	frameshift deletion	ZNF611:NM_001161500:exon5:c.308_309del:p.F103Sfs*4,ZNF611:NM_001161501:exon5:c.101_102del:p.F34Sfs*4,ZNF611:NM_001161499:exon6:c.308_309del:p.F103Sfs*4,ZNF611:NM_030972:exon7:c.308_309del:p.F103Sfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9027.29	496	chr19	52706745	.	GGA	G	9027.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.319;DP=1349;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=-0.069;QD=18.2;ReadPosRankSum=1.12;SOR=0.789	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr19	52714086	52714086	C	A	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon4:c.G119T:p.C40F,ZNF611:NM_001161499:exon5:c.G119T:p.C40F,ZNF611:NM_030972:exon6:c.G119T:p.C40F	.	178	1314	28	2	0	32	0.0120301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00281738910045	0.0039	0.00119808	0.0035	0.0009	0.0066	0.0003	0.0009	0.0041	0.0066	0.0033	0.0037268	97	26028	rs149629821	0.0040	0.0040	0.0039	0.0041	0.0104	0.0039	0.0039	0.0083	0.0075	0.0014	0.0049	0.0042	0.0003	0.0006	0.0104	0.0043	0.0040	0.0032	0.0026	0.0026	0.0027	0.0025	0.0039	0.0024	0.0023	0.0035	0.0034	0.0010	0	0.0027	0.0052	0.0006	0.0007	0.0034	0.0039	0.0038	0.0023	0.113	0.28772	T	0.201	0.27503	T	0.011	0.15914	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.64	0.01799	T	-7.15	0.94096	D	0.111	0.11483	-0.9276	0.44487	T	0.007	0.02321	T	9	0.021801442	0.00529	T	0.002817	0.05898	T	0.075	0.21907	.	.	0.0762999501168	0.06990	0.06691334628893894	0.06629	0.0205346747606	0.02017	0.345161855221	0.17207	T	0.011663	0.10375	T	-0.666698	0.00057	T	-0.728937	0.04375	T	0.0239546125926923	0.01139	T	0.0345715	0.00233	T	0.2832653	0.51360	0.30935505	0.56950	0.2832653	0.51360	0.30935505	0.56949	-7.58	0.58171	D	.	.	0.135	0.29311	B	.;.;.;.	.;.;.;.	0.066178	0.04756	1.380	0.51469931782380163	0.04569	0.00225	0.01265	N	AEFBI	0.028400	0.02493	N	-1.69704696893847	0.00852	0.03686995	-1.73446749451502	0.00993	0.04449944	9.26090197134346E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	3.03	0.549	0.16403	-1.479000	0.02432	.	.	-1.215000	0.01346	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4493:0.5507:0.0:0.0	11.551	0.49974	900	0.24599	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3076.33	33	chr19	52714086	.	C	A	3076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=921;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.72;MQRankSum=-12.74;QD=11.03;ReadPosRankSum=0.194;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1335	18	0	1	0
chr19	52800731	52800731	G	A	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.C955T:p.R319C,ZNF28:NM_001369763:exon4:c.C1105T:p.R369C,ZNF28:NM_001369764:exon4:c.C1072T:p.R358C,ZNF28:NM_006969:exon4:c.C1114T:p.R372C,ZNF28:NM_001369765:exon5:c.C1006T:p.R336C	.	421	1099	2	0	0	2	0.000909091	.	.	.	3927134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.000660766135765	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1050390526	1.3e-05	1.3e-05	1.225e-05	1.375e-05	2.52e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	2.52e-05	0	0	1.529e-05	1.656e-05	0	1.325e-05	1.318e-05	1.293e-05	1.358e-05	6.614e-05	2.2e-06	8.2e-07	.	.	0	0	6.614e-05	0	0	0	0	1.475e-05	0	0	0.09	0.31987	T	0.209	0.40110	T	0.107	0.26081	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.69	0.43327	L	1.72	0.26588	T	0.75	0.08187	N	0.049	0.02088	-1.0310	0.20131	T	0.046	0.19720	T	9	0.24407634	0.41633	T	6.61E-4	0.00367	T	0.028	0.06331	0.626	0.76141	0.0482279557977	0.04254	0.027377945737882735	0.02687	0.0350266428864	0.03692	0.292452454567	0.09280	T	0.043201	0.26427	T	-0.325566	0.06452	T	-0.70543	0.05534	T	0.0499728373429935	0.05495	T	0.673133	0.28166	T	0.030614972	0.02756	0.026189951	0.00695	0.030614972	0.02755	0.026189951	0.00695	-5.899	0.45427	T	.	.	0.295	0.56625	B	.;.;.	.;.;.	0.226740	0.06082	2.528	0.5416726588233719	0.05084	0.00320	0.01682	N	AEFBHCI	0.043077	0.06765	N	-1.81125676697989	0.00518	0.02230618	-2.01458063398579	0.00285	0.01259238	0.100787809511197	0.16362	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.58	-3.15	0.04912	-10.852000	0.00007	.	.	-3.809000	0.00058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2148:0.2955:0.3124:0.1773	0.975	0.01335	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2290.33	175	chr19	52800731	.	G	A	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1925;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.96;SOR=0.547	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D,ZNF28:NM_001369763:exon4:c.G833A:p.G278D,ZNF28:NM_001369764:exon4:c.G800A:p.G267D,ZNF28:NM_006969:exon4:c.G842A:p.G281D,ZNF28:NM_001369765:exon5:c.G734A:p.G245D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2016.33	41	chr19	52801003	.	C	T	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=1803;ExcessHet=0;FS=4.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.11;SOR=0.636	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	52841624	52841624	A	G	exonic	ZNF468	.	nonsynonymous SNV	ZNF468:NM_001008801:exon4:c.T670C:p.F224L	.	428	1090	4	0	0	4	0.0018315	.	.	.	2424084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000841005756866	7.7e-05	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs139254214	5.541e-05	5.541e-05	4.22e-05	6.876e-05	0.0010	4.543e-05	4.155e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.407e-05	0.0001	0.0002	7.227e-05	7.223e-05	0.0001	2.69e-05	0.0004	3.971e-05	3.127e-05	7.293e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0.0004	.	.	.	0.049	0.48336	D	0.047	0.21998	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	2.945	0.84822	M	1.63	0.28002	T	.	.	.	0.119	0.10911	-1.0113	0.26510	T	0.062	0.25780	T	9	0.050820827	0.04872	T	8.41E-4	0.00713	T	.	.	0.678	0.81594	0.219573609325	0.21563	0.018027578589710012	0.01756	0.0844795135014	0.09542	0.385478794575	0.23030	T	0.081338	0.36573	T	-0.506025	0.00529	T	-0.664323	0.07978	T	0.0587328249630364	0.06967	T	0.121488	0.00940	T	0.13181189	0.30711	0.14863595	0.35127	0.13181189	0.30711	0.14863595	0.35126	-6.113	0.47215	T	.	.	0.560	0.67195	A	.	.	1.740220	0.22144	15.50	0.93694404375055806	0.23602	0.07542	0.13555	N	AEFBCI	0.027920	0.02366	N	-0.951403091134724	0.09661	0.4582219	-1.07215851113756	0.08251	0.4048966	1.55513053068137E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.49	0.368	0.15378	-0.089000	0.11146	.	.	0.386000	0.20455	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.8254:0.0:0.1746:0.0	5.254	0.14855	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3038.33	35	chr19	52841624	.	A	G	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.46;DP=3029;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.822;SOR=0.558	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	18	0	1	0
chr19	52906302	52906302	A	T	exonic	ZNF888	.	nonsynonymous SNV	ZNF888:NM_001384656:exon3:c.T1912A:p.Y638N,ZNF888:NM_001310127:exon4:c.T2020A:p.Y674N,ZNF888:NM_001384652:exon5:c.T2077A:p.Y693N,ZNF888:NM_001384653:exon5:c.T2020A:p.Y674N,ZNF888:NM_001384655:exon5:c.T1912A:p.Y638N,ZNF888:NM_001384654:exon6:c.T1912A:p.Y638N	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377511797	1.232e-05	1.231e-05	1.635e-05	8.257e-06	0.0002	7.7e-06	6.36e-06	9.757e-05	6.955e-05	0.0002	0	0	0	0	0.0002	0	0.0001	2.325e-05	2.651e-05	2.634e-05	1.296e-05	4.069e-05	7.299e-05	8.19e-06	5.18e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08752164	0.14981	T	.	.	.	.	.	.	.	.	.	0.00316250429346427	0.00295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285671	0.05095	T	0.039784748	0.05556	0.06783965	0.14089	0.039784748	0.05556	0.06783965	0.14088	-0.402	0.00527	T	.	.	0.248	0.48261	B	.	.	-0.753600	0.01202	0.059	0.58321992640919562	0.05967	0.00097	0.00633	N	AEFBI	.	.	.	.	.	.	.	.	.	3.70800120584567E-5	0.03775	0.156188	0.03335	0	0.156173	0.03658	0	0.231514	0.04749	0	0.117559	0.03655	0	0.0492226	0.08869	1.71	-3.41	0.04535	-0.982000	0.03873	.	.	-1.538000	0.00984	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1803:0.1318:0.3503:0.3375	1.030	0.01441	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	81	chr19	52906302	.	A	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=1133;ExcessHet=0;FS=2.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.069;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	18	0	1	0
chr19	52929180	52929180	T	C	exonic	ZNF816-ZNF321P	.	nonsynonymous SNV	ZNF816-ZNF321P:NM_001202473:exon4:c.A425G:p.H142R	.	434	1084	4	0	0	4	0.00184162	.	.	.	2387085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0021170031406	0.0009	.	0.0009	0.0004	8.637e-05	0	0	0.0016	0.0022	0	0.0009056	140	154602	rs201431366	0.0015	0.0015	0.0016	0.0014	0.0019	0.0014	0.0014	0.0018	0.0018	0.0002	0.0002	0.0003	0	7.488e-05	0.0012	0.0019	0.0008	2.319e-05	0.0009	0.0009	0.0011	0.0008	0.0019	0.0008	0.0008	0.0016	0.0015	0.0001	0	0.0005	0	0	0	0	0.0019	0.0010	0	0.219	0.19023	T	0.275	0.22016	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.33	0.01072	T	-4.91	0.81595	D	0.162	0.17002	-0.9355	0.43318	T	0.005	0.01797	T	9	0.013365835	0.00284	T	0.002117	0.03935	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.06546945332546107	0.06485	0.0206994152946	0.02043	.	.	.	.	.	.	-0.645467	0.00077	T	-0.706112	0.05498	T	0.0155660815486717	0.00354	T	0.30107	0.05662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04002	B	.	.	0.031234	0.04504	1.207	0.37961627701867584	0.02532	0.00773	0.03184	N	AEFBI	0.028792	0.02603	N	-1.23362620162554	0.04520	0.2041699	-1.37669924972792	0.03502	0.1634731	1.0850749236282E-5	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.1	-1.36	0.08610	-0.474000	0.06686	.	.	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5024:0.0:0.4976	4.320	0.10454	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001591	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	4289.33	33	chr19	52929180	.	T	C	4289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.298;DP=1061;ExcessHet=0;FS=6.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.419;SOR=0.922	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1236	18	0	1	0
chr19	52929375	52929375	G	A	exonic	ZNF816-ZNF321P	.	nonsynonymous SNV	ZNF816-ZNF321P:NM_001202473:exon4:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00224166844007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.71	0.00734	T	-5.25	0.84035	D	0.084	0.06059	-0.9298	0.44168	T	0.008	0.02760	T	9	0.100819826	0.18384	T	0.002242	0.04260	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.047750249510487924	0.04718	0.0223998894145	0.02255	.	.	.	.	.	.	-0.346072	0.04979	T	-0.734885	0.04109	T	0.241982221603394	0.22510	T	0.139386	0.01113	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27998	B	.	.	0.156458	0.05477	1.944	0.94270423292361316	0.24557	0.00411	0.02041	N	AEFBI	0.021536	0.00969	N	-1.06654605888304	0.07267	0.3370535	-1.19598358634758	0.05976	0.2863228	9.35738495920128E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	1.5	0.371	0.15400	-1.211000	0.03106	.	.	-0.333000	0.05756	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.57:0.4299	5.971	0.18590	994	0.00715	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5489.33	33	chr19	52929375	.	G	A	5489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=1094;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.773;SOR=0.525	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1236	18	0	1	0
chr19	53015235	53015235	T	C	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.T1145C:p.M382T	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131657881587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.156e-06	4.373e-06	3.379e-06	2.961e-06	5.072e-06	5.3e-07	2e-07	8.4e-07	3.2e-07	0	0	0	0	0	0	5.072e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.54934	D	0.871	0.47859	P	0.833	0.59784	P	.	.	.	.	.	.	.	1.15	0.29295	L	2.33	0.16492	T	.	.	.	0.537	0.56489	.	.	.	.	.	.	.	0.51473826	0.62300	D	0.013166	0.32362	T	.	.	.	.	0.250039746154	0.24611	0.3082915976887026	0.30742	.	.	0.583949923515	0.50642	T	0.055068	0.29901	T	-0.183511	0.23215	T	-0.501377	0.22206	T	.	.	.	0.433057	0.11799	T	0.13709812	0.31758	0.36434102	0.61804	0.13709812	0.31758	0.36434102	0.61804	-4.26	0.27612	T	.	.	0.540	0.66359	A	.	.	2.094148	0.26643	17.19	0.78274744013547626	0.12230	0.00460	0.02218	N	AEFDGBI	0.032351	0.03640	N	.	.	.	.	.	.	3.44152846762801E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.493000	0.22160	.	.	0.359000	0.20063	0.003000	0.16062	0.001000	0.17328	0.535000	0.29822	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1416.33	36	chr19	53015235	.	T	C	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=925;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=-2.747;QD=9.7;ReadPosRankSum=0.734;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	53015436	53015443	CCCTCCCC	-	exonic	ERVV-1	.	frameshift deletion	ERVV-1:NM_152473:exon1:c.1346_1353del:p.A449Vfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	235.29	36	chr19	53015435	.	GCCCTCCCC	G	235.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.02;DP=1014;ExcessHet=0;FS=92.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=2.58;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr19	53015443	53015443	-	GGGTGGGG	exonic	ERVV-1	.	frameshift insertion	ERVV-1:NM_152473:exon1:c.1353_1354insGGGTGGGG:p.S452Gfs*95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	259.29	36	chr19	53015443	.	C	CGGGTGGGG	259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.793;DP=883;ExcessHet=0;FS=89.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=2.15;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr19	53068496	53068496	T	C	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.A2038G:p.N680D,ZNF160:NM_001322129:exon6:c.A2038G:p.N680D,ZNF160:NM_001322131:exon6:c.A2038G:p.N680D,ZNF160:NM_001322135:exon6:c.A2038G:p.N680D,ZNF160:NM_033288:exon6:c.A2038G:p.N680D,ZNF160:NM_001102603:exon7:c.A2038G:p.N680D,ZNF160:NM_001322128:exon7:c.A2038G:p.N680D,ZNF160:NM_001322130:exon7:c.A2038G:p.N680D,ZNF160:NM_001322132:exon7:c.A2038G:p.N680D,ZNF160:NM_001322133:exon7:c.A2038G:p.N680D,ZNF160:NM_001322134:exon7:c.A2038G:p.N680D,ZNF160:NM_001322138:exon7:c.A1930G:p.N644D,ZNF160:NM_198893:exon7:c.A2038G:p.N680D,ZNF160:NM_001322137:exon8:c.A1930G:p.N644D,ZNF160:NM_001322139:exon9:c.A1930G:p.N644D	.	366	1154	2	0	0	2	0.000865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00110163782604	0.0023	0.000998403	0.0019	0.0003	0.0006	0	0.0012	0.0026	0.0011	0.0023	0.001934	299	154602	rs45543133	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0031	0.0030	0.0004	0.0004	0.0015	0	0.0010	0.0009	0.0031	0.0027	0.0025	0.0019	0.0019	0.0020	0.0017	0.0033	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0010	0.0009	0	0.0011	0	0.0033	0	0.0012	0.296	0.14694	T	0.16	0.38891	T	0.833	0.46172	P	0.324	0.41853	B	.	.	.	.	1	0.08975	N	-0.785	0.01646	N	3.2	0.07236	T	-1.57	0.37955	N	0.053	0.03956	-1.0206	0.23519	T	0.005	0.01761	T	9	0.0038520992	0.00073	T	0.001102	0.01312	T	0.053	0.14996	.	.	0.0401082797425	0.02173	0.021800676780242906	0.02132	0.303171864291	0.32638	0.233312427998	0.02222	T	0.028586	0.20673	T	-0.725185	0.00026	T	-0.814599	0.01565	T	0.0213854944749529	0.00841	T	0.158184	0.01407	T	0.063107654	0.13253	0.05745448	0.10448	0.063107654	0.13253	0.05745448	0.10447	-6.208	0.47988	T	.	.	0.139	0.35162	B	.;.;.;.	.;.;.;.	0.540387	0.09088	5.873	0.89422286551266128	0.18783	0.00053	0.00405	N	AEFGBHCI	0.044836	0.07261	N	-1.02932757624558	0.07999	0.3735462	-1.15853613021605	0.06615	0.3190404	0.00111967608817833	0.08239	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.47	0.121	0.13999	-1.482000	0.02426	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.735000	0.35267	0.3375:0.1286:0.1817:0.3522	0.340	0.00309	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1981.33	142	chr19	53068496	.	T	C	1981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=942;ExcessHet=0;FS=2.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.244;SOR=0.495	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	18	0	1	0
chr19	53115309	53115309	T	C	exonic;splicing	ZNF415;ZNF415	NM_001330766:exon6:c.183-2A>G;NM_001352134:exon5:c.183-2A>G;NM_001352133:exon5:c.183-2A>G;NM_001352140:exon4:c.75-2A>G;NM_001352132:exon5:c.183-2A>G;NM_001352138:exon4:c.75-2A>G;NM_001352139:exon4:c.75-2A>G;NM_001352141:exon4:c.75-2A>G	nonsynonymous SNV	ZNF415:NM_001352130:exon5:c.A268G:p.R90G,ZNF415:NM_001352131:exon5:c.A268G:p.R90G	.	0	225	1	0	0	1	0.00221729	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920890528	7.719e-05	5.243e-05	0.0002	0	0.0006	2.046e-05	1.067e-05	.	.	0	0.0003	0.0013	0	0	0.0006	0	0	0	2.645e-05	2.629e-05	3.879e-05	1.353e-05	1.472e-05	8.18e-06	5.17e-06	.	.	0	0	0	0.0003	0	0	0.0034	1.472e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19238	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.737903	0.00021	T	-0.931281	0.00327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	1.479345	0.19046	14.06	0.42301123561080878	0.03109	0.01044	0.03898	N	AEFBI	.	.	.	-0.784990059100999	0.13700	0.6768185	-1.03076985916515	0.09112	0.4515575	8.93015013126976E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.057018	0.00518	0	0.046875	0.06002	0.158	0.158	0.14233	0.401000	0.20673	.	.	0.266000	0.18458	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	33	chr19	53115309	.	T	C	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.811;DP=726;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.732;SOR=0.564	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr19	53142167	53142167	A	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.T664G:p.S222A,ZNF347:NM_001172675:exon5:c.T664G:p.S222A,ZNF347:NM_032584:exon5:c.T661G:p.S221A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00373069737982	0.0024	0.00159744	0.0022	0.0002	0.0006	0	0.0003	0.0033	0.0011	0.0018	0.0020051	310	154602	rs150054471	0.0021	0.0022	0.0021	0.0022	0.0114	0.0021	0.0021	0.0092	0.0084	0.0006	0.0011	0.0165	0	0.0002	0.0114	0.0020	0.0032	0.0020	0.0016	0.0016	0.0016	0.0016	0.0020	0.0014	0.0014	0.0018	0.0017	0.0004	0	0.0009	0.0147	0	0.0002	0.0136	0.0020	0.0038	0.0017	0.082	0.33254	T	0.334	0.18340	T	0.158	0.28271	B	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0.635	0.15989	N	3.21	0.07236	T	-2.26	0.50502	N	0.093	0.11769	-0.9214	0.45362	T	0.011	0.04369	T	9	0.0068825185	0.00156	T	0.003731	0.08651	T	0.013	0.01715	.	.	0.231231049324	0.22751	0.0212500144251586	0.02078	0.012742868649	0.01221	0.240050345659	0.02795	T	0.054427	0.29721	T	-0.666017	0.00058	T	-0.734702	0.04118	T	0.00338177271763022	0.00036	T	0.00856581	0.00040	T	0.11399232	0.26916	0.09214802	0.21700	0.11399232	0.26916	0.09214802	0.21700	-4.684	0.33210	T	.	.	0.079	0.07650	B	.;.;.	.;.;.	1.087805	0.14711	11.26	0.92995168697219244	0.22582	0.04342	0.09906	N	AEFBI	0.024031	0.01424	N	-1.17339779680434	0.05405	0.2463305	-1.2191213321586	0.05603	0.26742	3.51835075321682E-4	0.06668	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.45	1.4	0.21393	-0.357000	0.07702	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8474:0.0:0.1526:0.0	5.199	0.14576	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.005051	0.010870	0.020468	0.000000	0.051724	0.009146	0.007576	0.02632	1977.33	38	chr19	53142167	.	A	C	1977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.85;DP=854;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.642;SOR=0.903	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr19	53165146	53165146	A	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.T1344G:p.H448Q,ZNF665:NM_024733:exon4:c.T1344G:p.H448Q,ZNF665:NM_001353457:exon5:c.T1338G:p.H446Q,ZNF665:NM_001353458:exon5:c.T1428G:p.H476Q	.	.	.	.	.	.	.	.	.	.	.	2363848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.00390050597183	0.0005	.	0.0002	0	0	0	0	0.0003	0	0	0.0001229	19	154602	rs200870552	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	5.974e-05	2.236e-05	0.0015	0	0	0.0009	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.172e-05	6.728e-05	0.0001	8.877e-05	2.415e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.4	0.91674	M	-2.18	0.86722	D	-7.84	0.96032	D	0.547	0.57348	0.133	0.84761	D	0.829	0.94270	D	9	0.130846	0.24901	T	0.003901	0.09180	T	0.238	0.54217	0.739	0.87147	0.834823053897	0.83324	0.22054954800297555	0.21969	0.231121841652	0.25661	0.620276093483	0.55768	T	0.32664	0.69724	T	-0.127098	0.31967	T	-0.118622	0.61916	T	0.377781900529469	0.28097	T	0.455254	0.13307	T	0.45770797	0.64528	0.36907533	0.62185	0.45770797	0.64529	0.36907533	0.62184	.	.	.	.	.	0.987	0.92711	P	.;.	.;.	2.534202	0.32768	19.14	0.94914043276765314	0.25779	0.00977	0.03727	N	AEFGBCI	0.143397	0.26609	N	-0.147977933381829	0.35321	2.027292	-0.534580087485333	0.21217	1.146698	3.73104230699782E-5	0.03775	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.38	0.086	0.13753	-0.116000	0.10697	.	.	0.614000	0.49286	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.6128:0.0:0.3872:0.0	6.486	0.21287	994	0.00715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1808.33	140	chr19	53165146	.	A	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=2369;ExcessHet=0;FS=1.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.755;SOR=0.889	GT:AD:DP:GQ:PL	0/0:164,0:164:99:0,120,1800	18	0	1	0
chr19	53165697	53165697	T	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.A793G:p.N265D,ZNF665:NM_024733:exon4:c.A793G:p.N265D,ZNF665:NM_001353457:exon5:c.A787G:p.N263D,ZNF665:NM_001353458:exon5:c.A877G:p.N293D	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0070	0.00539137	0.0018	0.0209	8.637e-05	0	0	2.997e-05	0	0.0001	0.0017141	265	154602	rs79224520	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0008	0	0	0	0.0005	2.338e-05	0.0010	2.319e-05	0.0050	0.0050	0.0053	0.0047	0.0175	0.0047	0.0046	0.0164	0.0160	0.0175	0	0.0021	0	0	0	0	4.41e-05	0.0024	0	0.24	0.17701	T	0.164	0.31026	T	0.004	0.12183	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.495	0.02627	N	2.38	0.15843	T	-2.56	0.55339	D	0.059	0.05287	-0.9744	0.36257	T	0.009	0.03140	T	9	0.0029756725	0.00048	T	.	.	.	0.039	0.10176	.	.	0.128392430309	0.12331	0.015205824773005841	0.01476	0.0318536855555	0.03304	0.280150294304	0.07513	T	0.049407	0.28298	T	-0.7782	0.00011	T	-0.875011	0.00697	T	0.00729956563191857	0.00084	T	0.0719928	0.00526	T	0.28612664	0.51631	0.23860982	0.49188	0.28612664	0.51630	0.23860982	0.49187	.	.	.	.	.	0.115	0.25166	B	.;.	.;.	1.154671	0.15429	11.84	0.95898492381716982	0.28123	0.00353	0.01817	N	AEFDBHCI	0.071163	0.14156	N	-1.08309207512457	0.06954	0.3216486	-1.0943778836598	0.07810	0.3813942	1.06917366472756E-5	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.31	1.24	0.20416	-2.265000	0.01254	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.216000	0.22352	0.2114:0.1431:0.2154:0.4301	0.427	0.00433	994	0.00715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001058	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2018.33	140	chr19	53165697	.	T	C	2018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.662;DP=2239;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=0.991;QD=18.18;ReadPosRankSum=0.585;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:127,0:127:99:.:.:0,120,1800:.	18	0	1	0
chr19	53237198	53237198	G	C	exonic	ZNF677	.	nonsynonymous SNV	ZNF677:NM_001317998:exon5:c.C1529G:p.T510S,ZNF677:NM_001385608:exon5:c.C1529G:p.T510S,ZNF677:NM_182609:exon5:c.C1529G:p.T510S	.	.	.	.	.	.	.	.	.	.	.	3646004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000743118494315	.	.	2.474e-05	0	8.643e-05	0	0	3e-05	0	0	2.59e-05	4	154602	rs760429806	6.846e-06	6.845e-06	8.175e-06	5.505e-06	4.476e-05	3.46e-06	2.52e-06	7.42e-06	2.78e-06	2.988e-05	4.476e-05	0	0	0	0	5.4e-06	0	1.16e-05	6.576e-06	6.572e-06	1.286e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.18	0.21968	T	0.032	0.53426	D	0.763	0.43659	P	0.419	0.45047	B	0.002676	0.36137	N	0.000000	0.923712	0.27232	N	0.95	0.23787	L	1.87	0.24085	T	-2.48	0.54059	N	0.136	0.13484	-1.0709	0.09216	T	0.054	0.22770	T	10	0.19580975	0.35448	T	7.43E-4	0.00510	T	0.038	0.09825	0.398	0.42590	0.516604699598	0.51303	0.014861411201078503	0.01443	0.0565012851679	0.06243	0.343764781952	0.17000	T	0.159253	0.50262	T	-0.320021	0.06895	T	-0.521618	0.20132	T	0.28437939286232	0.24355	T	0.00589941	0.00022	T	0.14942104	0.34066	0.14812087	0.35026	0.14942104	0.34066	0.14812087	0.35025	-5.822	0.44766	T	.	.	0.187	0.41249	B	.;.	.;.	1.507050	0.19364	14.23	0.9868674071801562	0.44695	0.04395	0.09978	N	AEFBHCI	0.402098	0.47632	N	0.0183544251293541	0.42690	2.576953	-0.0131213099145411	0.39122	2.314833	0.725683121836022	0.22984	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.21	2.21	0.27042	3.095000	0.49927	.	.	0.582000	0.30178	0.934000	0.32416	0.000000	0.08366	0.709000	0.34421	0.0:0.0:1.0:0.0	10.521	0.44107	994	0.00715	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	35	chr19	53237198	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=710;ExcessHet=0;FS=2.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.886;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	18	0	1	0
chr19	53259064	53259064	A	-	exonic	VN1R2	.	frameshift deletion	VN1R2:NM_173856:exon1:c.689delA:p.Y230Lfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3574.29	35	chr19	53259063	.	TA	T	3574.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=883;ExcessHet=0;FS=2.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=0.56;SOR=0.609	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1141	18	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.02632	93.33	87	chr19	53267316	.	G	C	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.916;DP=1051;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.58;MQRankSum=-8.949;QD=0.48;ReadPosRankSum=-0.224;SOR=0.551	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr19	53353432	53353433	GT	-	exonic	ZNF845	.	frameshift deletion	ZNF845:NM_138374:exon4:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321522:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321523:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321524:exon5:c.2757_2758del:p.C920Wfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002329	36	154602	rs779634863	0.0001	0.0001	8.441e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.237e-05	0.0014	0	0	0.0007	2.248e-05	0.0003	0.0013	9.196e-05	9.187e-05	7.713e-05	0.0001	0.0015	5.526e-05	4.363e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0	4.411e-05	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2215.29	39	chr19	53353431	.	AGT	A	2215.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=1019;ExcessHet=0;FS=2.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.493;SOR=0.95	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr19	53381438	53381438	A	G	exonic	ZNF525	.	nonsynonymous SNV	ZNF525:NM_001348156:exon4:c.A859G:p.T287A,ZNF525:NM_001348157:exon4:c.A751G:p.T251A	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.0061901	0.0020	0.0230	0.0006	0	0	1.505e-05	0	0	0.0018564	287	154602	rs10415690	0.0007	0.0007	0.0008	0.0005	0.0233	0.0006	0.0006	0.0219	0.0213	0.0233	0.0011	0	0	0	0.0004	1.072e-05	0.0017	4.746e-05	0.0064	0.0064	0.0066	0.0062	0.0220	0.0061	0.0060	0.0208	0.0204	0.0220	0	0.0033	0	0	0	0	0.0001	0.0033	0	1.0	0.00964	T	0.956	0.03352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.25	0.06762	T	-1.79	0.47683	N	0.018	0.00252	-0.9818	0.34585	T	0.014	0.05465	T	8	0.003270775	0.00056	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.00646208546397631	0.00614	0.0722118385532	0.08101	.	.	.	.	.	.	-0.771527	0.00013	T	-0.864102	0.00800	T	0.00587267659308378	0.00064	T	0.186481	0.02066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.27851	B	.;.	.;.	-0.859266	0.00996	0.040	0.49595433310093773	0.04237	0.00987	0.03753	N	AEFGBI	0.028441	0.02505	N	-1.48538583212017	0.01952	0.08573343	-1.6143853695051	0.01570	0.07119045	0.0403177953606743	0.14434	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	1.86	-2.02	0.06981	-2.176000	0.01347	.	.	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4496:0.0:0.5504:0.0	7.846	0.28586	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3388.33	117	chr19	53381438	.	A	G	3388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=2422;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.331;SOR=0.814	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	18	0	1	0
chr19	53408232	53408232	G	T	exonic	ZNF765	.	nonsynonymous SNV	ZNF765:NM_001350495:exon3:c.G518T:p.C173F,ZNF765:NM_001040185:exon4:c.G677T:p.C226F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00110723458126	.	.	4.135e-05	0	0	0	0	4.498e-05	0	0.0001	3.88e-05	6	154602	rs772355981	3.694e-05	3.694e-05	3.403e-05	3.988e-05	0.0007	2.894e-05	2.592e-05	0.0002	0.0001	2.987e-05	4.472e-05	0	0	0	0.0007	3.867e-05	3.311e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.693	0.04264	T	0.699	0.05747	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.49	0.14531	T	-3.31	0.65972	D	0.109	0.09490	-0.9646	0.38290	T	0.023	0.09741	T	8	0.04675454	0.03906	T	0.001107	0.01336	T	0.018	0.03083	0.314	0.28935	0.0482279557977	0.04254	0.012173580694530005	0.01176	0.0616128790584	0.06866	.	.	.	0.015128	0.12745	T	-0.480759	0.00732	T	-0.746825	0.03610	T	0.0263403320982392	0.01452	T	0.00828806	0.00038	T	0.073580824	0.16453	0.13492694	0.32318	0.073580824	0.16453	0.13492694	0.32318	-7.739	0.59278	D	.	.	0.122	0.25364	B	.	.	-1.666477	0.00209	0.003	0.25583987898297389	0.01186	0.00768	0.03170	N	AEFBI	.	.	.	-1.56366008572876	0.01456	0.06355307	-1.69737765555772	0.01149	0.05168351	2.74146924499937E-4	0.06300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.439	-0.879	0.10076	-2.038000	0.01506	.	.	-1.855000	0.00567	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3986:0.0:0.6014:0.0	4.466	0.11107	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	5062.33	122	chr19	53408232	.	G	T	5062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.409;DP=2454;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.499;SOR=0.623	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,120,1800	18	0	1	0
chr19	53490801	53490801	A	G	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.A569G:p.N190S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00180352528114	.	.	2.495e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs746024242	1.505e-05	1.505e-05	1.633e-05	1.375e-05	0.0002	9.85e-06	8.41e-06	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0.0002	1.349e-05	1.656e-05	1.159e-05	5.912e-05	5.909e-05	2.568e-05	9.412e-05	0.0005	3.076e-05	2.209e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	2.939e-05	0	0	0.029	0.45756	D	0.045	0.49390	D	0.26	0.31497	B	0.081	0.28987	B	.	.	.	.	1	0.08975	N	2.33	0.66821	M	1.67	0.27331	T	-4.19	0.75615	D	0.069	0.04188	-1.0247	0.22181	T	0.043	0.18618	T	8	0.075974405	0.11811	T	0.001804	0.03089	T	0.041	0.10877	0.194	0.10571	0.0920862733494	0.08535	0.025336954491110286	0.02484	0.0656326091647	0.07319	0.274374306202	0.06720	T	0.019995	0.15821	T	-0.435949	0.01366	T	-0.75633	0.03245	T	0.132182657718658	0.15582	T	0.0444955	0.00313	T	0.18642426	0.40050	0.18679573	0.41874	0.18642426	0.40050	0.18679573	0.41873	-7.557	0.58010	D	.	.	0.076	0.06069	B	.	.	0.205957	0.05902	2.341	0.77080497213121824	0.11728	0.00390	0.01961	N	AEFBI	.	.	.	-1.15595861881177	0.05682	0.2596838	-1.31499861860019	0.04236	0.1993701	2.03827954357322E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	0.467	-0.703	0.10694	-0.528000	0.06280	.	.	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000530	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3668.33	259	chr19	53490801	.	A	G	3668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.564;DP=4599;ExcessHet=0;FS=1.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-0.257;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:214,0:214:99:.:.:0,120,1800:.	18	0	1	0
chr19	53491514	53491514	C	T	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.C1282T:p.R428C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00183739591701	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	4.789e-06	4.788e-06	2.723e-06	6.877e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	3.313e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.095	0.39492	T	0.018	0.17786	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	2.16	0.60381	M	1.72	0.26588	T	0.06	0.06253	N	0.102	0.08506	-0.9695	0.37304	T	0.077	0.30737	T	9	0.09213516	0.16198	T	0.001837	0.03193	T	0.025	0.05312	0.379	0.39482	0.130388298395	0.12655	0.025469514468854093	0.02497	0.0493026568608	0.05396	0.436869502068	0.30150	T	0.012909	0.11259	T	-0.313046	0.07483	T	-0.687446	0.06538	T	0.114047645824991	0.13838	T	0.194281	0.02108	T	0.03492902	0.04013	0.032535277	0.02003	0.03492902	0.04013	0.032535277	0.02003	-4.863	0.35317	T	.	.	0.194	0.41464	B	.	.	0.735484	0.11045	7.702	0.63905302061807823	0.07348	0.01329	0.04584	N	AEFBI	.	.	.	-1.00549427676257	0.08489	0.3982277	-1.1925135655614	0.06034	0.2892512	9.36800686006622E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.28	-0.413	0.11747	-4.574000	0.00246	.	.	-0.654000	0.04376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5096:0.4903:0.0	7.711	0.27845	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001589	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	3399.33	259	chr19	53491514	.	C	T	3399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.31;DP=3944;ExcessHet=0;FS=14.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.741;QD=9.39;ReadPosRankSum=-0.119;SOR=1.286	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	18	0	1	0
chr19	53491652	53491652	A	G	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.A1420G:p.K474E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00377034837224	.	.	8.275e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs765982847	1.368e-06	1.368e-06	0	2.751e-06	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999991	0.58761	D	1.545	0.39105	L	1.69	0.27032	T	-3.47	0.67824	D	0.117	0.10626	-1.0531	0.13547	T	0.109	0.39392	T	9	0.2280429	0.39698	T	0.00377	0.08775	T	0.163	0.42028	0.526	0.63115	0.112648838833	0.10856	0.02483648755664474	0.02434	0.156839385408	0.17710	0.384775400162	0.22931	T	0.010815	0.09727	T	-0.318859	0.06991	T	-0.514267	0.20878	T	0.75772613286972	0.43722	D	0.0888911	0.00655	T	0.33176813	0.55616	0.19078176	0.42500	0.33176813	0.55616	0.19078176	0.42499	-8.055	0.61445	D	.	.	0.565	0.67424	P	.	.	2.528290	0.32681	19.12	0.95898874714048221	0.28125	0.80194	0.39897	D	AEFBI	.	.	.	-0.16914161944236	0.34424	1.964652	-0.439168728959782	0.23857	1.303267	4.49671087064988E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.15	1.15	0.19876	2.414000	0.44281	.	.	0.378000	0.20387	0.083000	0.22414	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	6.859	0.23239	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1583.33	259	chr19	53491652	.	A	G	1583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=3840;ExcessHet=0;FS=4.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.262;SOR=0.444	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	18	0	1	0
chr19	53576886	53576886	A	T	exonic	ZNF331	.	nonsynonymous SNV	ZNF331:NM_001253801:exon5:c.A326T:p.K109I,ZNF331:NM_001317113:exon5:c.A326T:p.K109I,ZNF331:NM_001317116:exon5:c.A326T:p.K109I,ZNF331:NM_001317119:exon5:c.A326T:p.K109I,ZNF331:NM_001317121:exon5:c.A326T:p.K109I,ZNF331:NM_001079906:exon6:c.A326T:p.K109I,ZNF331:NM_001079907:exon6:c.A326T:p.K109I,ZNF331:NM_001253799:exon6:c.A326T:p.K109I,ZNF331:NM_001253800:exon6:c.A326T:p.K109I,ZNF331:NM_001317114:exon6:c.A326T:p.K109I,ZNF331:NM_001317117:exon6:c.A326T:p.K109I,ZNF331:NM_001317118:exon6:c.A326T:p.K109I,ZNF331:NM_001253798:exon7:c.A326T:p.K109I,ZNF331:NM_001317115:exon7:c.A326T:p.K109I,ZNF331:NM_001317120:exon7:c.A326T:p.K109I,ZNF331:NM_018555:exon7:c.A326T:p.K109I	.	435	1059	23	4	1	32	0.0144253	.	.	.	705236	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.079	.	0.0053	0.00179712	0.0077	0.0013	0.0027	0	0.0082	0.0117	0.0066	0.0031	0.0074837	1157	154602	rs112855712	0.0067	0.0067	0.0068	0.0067	0.0074	0.0066	0.0066	0.0073	0.0072	0.0008	0.0038	0.0062	5.038e-05	0.0095	0.0057	0.0074	0.0062	0.0037	0.0055	0.0055	0.0058	0.0052	0.0083	0.0052	0.0051	0.0077	0.0075	0.0013	0	0.0059	0.0069	0	0.0065	0.0034	0.0083	0.0066	0.0039	0.023	0.72154	D	0.07	0.59159	T	0.045	0.21781	B	0.025	0.20508	B	0.073077	0.21369	N	0.240961	0.992882	0.41771	D	1.76	0.45711	L	3.11	0.09450	T	-4.05	0.79482	D	0.272	0.38541	-1.0468	0.15303	T	0.019	0.08033	T	10	0.007546127	0.00171	T	.	.	.	0.079	0.23065	.	.	0.46763814438	0.46390	0.27162076510049704	0.27075	1.421377758	0.85618	0.342191696167	0.16767	T	0.274482	0.64698	T	-0.470923	0.00839	T	-0.438837	0.28939	T	0.0143751333753561	0.00288	T	0.263374	0.12411	T	0.23822464	0.46697	0.16513857	0.38219	0.23822464	0.46697	0.16513857	0.38219	-5.146	0.38388	T	.	.	0.453	0.62351	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.426013	0.18436	13.73	0.99465340397474589	0.66049	0.05243	0.11077	N	AEFDBHCI	0.024695	0.01571	N	-0.779706392904022	0.13839	0.6847546	-0.859162418193244	0.13067	0.6758589	5.33915717425274E-5	0.04171	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.64	2.64	0.30504	0.989000	0.29229	.	.	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	1.0:0.0:0.0:0.0	9.054	0.35558	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.011364	0.05263	3305.83	36	chr19	53576886	.	A	T	3305.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.686;DP=1003;ExcessHet=0.119;FS=3.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.506;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1071:.	17	0	2	0
chr19	53807516	53807516	T	C	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon4:c.A2225G:p.N742S,NLRP12:NM_001277129:exon4:c.A2222G:p.N741S,NLRP12:NM_144687:exon4:c.A2222G:p.N741S	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	772894	Autoinflammatory_syndrome|Familial_cold_autoinflammatory_syndrome_2	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0128197216963	.	0.000399361	0.0003	0	0.0002	0	0	1.55e-05	0	0.0020	0.0002393	37	154602	rs548804330	0.0001	0.0001	6.398e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	4.474e-05	0	0	0	0.0002	9.892e-06	0.0001	0.0019	7.88e-05	7.875e-05	2.571e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	2.406e-05	0	0	0	0	0	0	0	0	0.0023	0.349	0.17410	T	0.303	0.27414	T	0.005	0.12996	B	0.014	0.16862	B	0.027213	0.01663	N	2.724680	1	0.21986	N	1.77	0.45869	L	-3.06	0.92457	D	-0.57	0.37759	N	0.058	0.04790	-0.3617	0.73213	T	0.509	0.81556	D	10	0.011303276	0.00248	T	0.01282	0.31723	T	0.205	0.49236	0.352	0.35084	0.448891444097	0.44514	0.047051837726646784	0.04648	0.0465134043319	0.05060	0.259353369474	0.04814	T	0.058132	0.30758	T	-0.479353	0.00746	T	-0.480348	0.24409	T	0.0422124315923996	0.04094	T	0.10319	0.00767	T	0.025415117	0.01476	0.031840313	0.01830	0.027704377	0.02000	0.041314516	0.04667	-3.751	0.23338	T	.	.	0.061	0.01252	B	.;.;.;.;.	.;.;.;.;.	-0.874554	0.00969	0.038	0.461335618946209	0.03672	0.02117	0.06260	N	AEFDBI	0.050260	0.08767	N	-1.76368789764958	0.00640	0.02761351	-1.86539656562987	0.00572	0.02537091	0.272491422456362	0.18906	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.503917	0.08554	0	.	.	3.86	-7.72	0.01112	-0.717000	0.05088	.	.	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.264000	0.23619	0.0:0.3788:0.1163:0.505	7.358	0.25904	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1019.33	38	chr19	53807516	.	T	C	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=729;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.497;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr19	53810950	53810950	C	T	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.G709A:p.G237R,NLRP12:NM_001277129:exon3:c.G709A:p.G237R,NLRP12:NM_144687:exon3:c.G709A:p.G237R	Familial cold autoinflammatory syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2017995	Familial_cold_autoinflammatory_syndrome_2	MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.0393653331451	7.7e-05	.	1.651e-05	0	0	0	0	1.502e-05	0	6.058e-05	1.29e-05	2	154602	rs373956169	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0.0002	8.993e-06	3.312e-05	1.159e-05	2.629e-05	2.626e-05	2.569e-05	2.691e-05	7.236e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.068	0.46406	T	1.0	0.90584	D	0.998	0.88582	D	0.000490	0.43931	D	0.000000	0.99885	0.45564	D	3.24	0.89678	M	-1.42	0.80645	T	-7.43	0.95511	D	0.347	0.46368	0.548	0.91211	D	0.689	0.89254	D	10	0.53359777	0.63322	D	0.039365	0.58768	D	0.667	0.87625	0.894	0.97506	0.89892325808	0.89792	0.5702165216994459	0.56949	0.286913229122	0.31092	0.493502557278	0.37925	T	0.654886	0.89571	D	0.0805498	0.62105	D	0.0594557	0.74209	D	0.991727828979492	0.82061	D	0.788521	0.42806	T	0.7677641	0.81914	0.7407909	0.84678	0.7677641	0.81915	0.7407909	0.84679	-8.315	0.63491	D	.	.	0.188	0.42317	B	.;.;.;.;.	.;.;.;.;.	3.461207	0.48238	22.6	0.99922812344023137	0.98852	0.49081	0.28352	N	AEFBI	0.374980	0.45968	N	0.368933019020876	0.59745	4.156629	0.216997771962977	0.50788	3.267423	0.99998010130845	0.51787	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	2.602000	0.45921	.	.	-0.253000	0.07101	0.084000	0.22438	0.001000	0.17328	0.971000	0.54645	0.0:1.0:0.0:0.0	14.581	0.67886	994	0.00715	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2285.33	46	chr19	53810950	.	C	T	2285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=1194;ExcessHet=0;FS=4.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.406;SOR=0.963	GT:AD:DP:GQ:PL	0/1:118,86:204:99:2299,0,2924	18	0	1	0
chr19	53873617	53873617	C	G	exonic	MYADM	.	nonsynonymous SNV	MYADM:NM_001020818:exon2:c.C88G:p.R30G,MYADM:NM_001290194:exon2:c.C88G:p.R30G,MYADM:NM_001020819:exon3:c.C88G:p.R30G,MYADM:NM_001020820:exon3:c.C88G:p.R30G,MYADM:NM_001020821:exon3:c.C88G:p.R30G,MYADM:NM_001290188:exon3:c.C88G:p.R30G,MYADM:NM_001290189:exon3:c.C88G:p.R30G,MYADM:NM_001290190:exon3:c.C88G:p.R30G,MYADM:NM_001290191:exon3:c.C88G:p.R30G,MYADM:NM_001290192:exon3:c.C88G:p.R30G,MYADM:NM_001290193:exon3:c.C88G:p.R30G,MYADM:NM_138373:exon3:c.C88G:p.R30G	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00535916803448	0.0008	0.000798722	0.0010	0	0.0003	0	0	0.0004	0.0022	0.0053	0.0008344	129	154602	rs150547635	0.0007	0.0007	0.0005	0.0009	0.0061	0.0006	0.0006	0.0057	0.0055	2.987e-05	0.0002	3.826e-05	0	5.617e-05	0.0043	0.0003	0.0009	0.0061	0.0004	0.0004	0.0004	0.0003	0.0041	0.0003	0.0003	0.0027	0.0023	7.216e-05	0	6.537e-05	0	0	0	0.0034	0.0004	0.0005	0.0041	0.083	0.37326	T	0.192	0.54159	T	0.649	0.40609	P	0.097	0.30390	B	0.027501	0.25748	N	0.232108	1	0.08975	N	0	0.06538	N	.	.	.	-1.99	0.47008	N	0.469	0.57006	-1.0273	0.21331	T	0.028	0.12190	T	9	0.0064009726	0.00145	T	0.005359	0.13740	T	0.070	0.20419	.	.	0.0482279557977	0.04254	0.41748526974413114	0.41664	0.478033407144	0.46893	0.579204559326	0.49974	T	0.021679	0.30149	T	-0.400738	0.02290	T	-0.346352	0.39623	T	0.0193615758128243	0.00641	T	0.749425	0.38803	T	0.21697219	0.44169	0.15890877	0.37086	0.21697219	0.44169	0.15890877	0.37085	-6.197	0.47898	T	.	.	0.248	0.48261	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.552415	0.33039	19.22	0.98151324419597863	0.38688	0.29574	0.23857	N	AEFDBHCI	0.239669	0.36158	N	-0.675706972574033	0.16715	0.8540628	-0.662413511955786	0.17904	0.954078	0.999021253529424	0.38237	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	1.64	0.22949	0.136000	0.15794	.	.	0.545000	0.25583	0.079000	0.22314	0.462000	0.25007	0.461000	0.28141	0.5385:0.4615:0.0:0.0	9.825	0.40071	994	0.00715	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1879.33	34	chr19	53873617	.	C	G	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=775;ExcessHet=0;FS=2.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.015;SOR=0.883	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	53942340	53942340	-	G	exonic	CACNG7	.	frameshift insertion	CACNG7:NM_001384801:exon5:c.730dupG:p.S246Vfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	0.0023	0.0216	0.0015	0	0	0.0003	0.0025	0.0006	0.0003074	8	26028	rs376023795	0.0009	0.0009	0.0010	0.0008	0.0210	0.0008	0.0008	0.0197	0.0192	0.0210	0.0018	0.0020	0	2.486e-05	0.0031	0.0002	0.0024	0.0008	0.0066	0.0066	0.0066	0.0065	0.0219	0.0062	0.0061	0.0207	0.0202	0.0219	0	0.0036	0.0014	0.0002	0	0	0.0002	0.0048	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	33452.9	93	chr19	53942340	.	A	AG	33452.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.394;DP=1514;ExcessHet=2.0135;FS=1.847;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=25.44;ReadPosRankSum=0.224;SOR=0.952	GT:AD:DP:GQ:PL	0/0:0,0:66:99:2093,2093,2093	17	0	2	0
chr19	53998287	53998287	G	A	exonic	CACNG6	.	nonsynonymous SNV	CACNG6:NM_145814:exon2:c.G380A:p.R127H,CACNG6:NM_145815:exon2:c.G380A:p.R127H	.	.	.	.	.	.	.	.	.	.	.	2215440	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00540006137836	7.7e-05	.	7.44e-05	0	0.0005	0	0	4.511e-05	0	0	7.76e-05	12	154602	rs113933127	3.421e-05	3.42e-05	3.812e-05	3.025e-05	0.0003	2.631e-05	2.375e-05	0.0001	0.0001	0.0003	0.0002	0	0	0	0	2.698e-05	0	1.159e-05	5.256e-05	5.25e-05	5.142e-05	5.375e-05	0.0001	2.557e-05	1.83e-05	4.732e-05	3.049e-05	0.0001	0	6.544e-05	0	0	0	0	2.941e-05	0	0	0.166	0.23183	T	0.528	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	0.297160	0.14663	N	0.633990	1	0.20103	N	1.735	0.44892	L	1.52	0.30669	T	0.47	0.03352	N	0.118	0.20793	-1.0821	0.06946	T	0.035	0.14900	T	10	0.024690866	0.00688	T	0.005	0.13862	T	0.024	0.04979	.	.	0.17258766438	0.16869	0.3994814461888703	0.39863	0.609390119141	0.55673	0.217751145363	0.01184	T	0.021242	0.16575	T	-0.53176	0.00375	T	-0.704054	0.05606	T	0.0226135645061731	0.00978	T	0.748825	0.40277	T	0.026247876	0.01658	0.04861786	0.07258	0.026247876	0.01657	0.04861786	0.07257	-5.128	0.38201	T	.	.	0.067	0.04159	B	.;.	.;.	-0.413192	0.02164	0.211	0.87930942361653985	0.17589	0.00916	0.03571	N	AEFDBI	0.033651	0.04033	N	-1.5302080840591	0.01654	0.072346	-1.54871263411618	0.01985	0.09066822	0.99816564220091	0.36515	0.615465	0.37627	0	0.547309	0.14657	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.36	-6.34	0.01808	-1.156000	0.03270	.	.	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.238000	0.22948	0.2834:0.0:0.7166:0.0	16.540	0.84230	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	987.33	35	chr19	53998287	.	G	A	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.72;DP=724;ExcessHet=0;FS=1.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.823;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	18	0	1	0
chr19	54070046	54070046	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon5:c.G773A:p.R258Q,TARM1:NM_001330650:exon5:c.G797A:p.R266Q	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00103972786388	.	0.00199681	0.0048	0.0023	0.0024	0	0	0.0066	0.0053	0.0039	0.001837	284	154602	rs139802953	0.0081	0.0077	0.0082	0.0079	0.0094	0.0079	0.0079	0.0093	0.0092	0.0015	0.0045	0.0011	0.0004	0.0040	0.0039	0.0094	0.0057	0.0037	0.0058	0.0058	0.0060	0.0056	0.0092	0.0055	0.0054	0.0086	0.0084	0.0013	0.0736	0.0045	0.0012	0.0002	0.0039	0	0.0092	0.0052	0.0027	0.921	0.02304	T	0.924	0.04260	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.04	0.00452	T	0.84	0.01761	N	0.064	0.03613	-0.9962	0.30974	T	0.000	0.00152	T	9	0.004252404	0.00085	T	0.00104	0.01167	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.1387978294536152	0.13802	.	.	0.213987320662	0.00992	T	.	.	.	-0.796873	0.00008	T	-0.907041	0.00454	T	0.000552514955551362	0.00005	T	0.637136	0.25071	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	0.167827	0.05572	2.030	0.64281830739256551	0.07450	0.00068	0.00484	N	AEFBI	0.016168	0.00348	N	-1.78442606066497	0.00584	0.02517918	-1.78436488658201	0.00810	0.03617845	2.65047079220499E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	-1.7	0.07721	-0.279000	0.08512	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.3459:0.2019:0.4522	3.793	0.08246	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2219.33	167	chr19	54070046	.	C	T	2219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=804;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.13;SOR=0.861	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	54074165	54074165	G	A	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon4:c.C413T:p.A138V,TARM1:NM_001330650:exon4:c.C437T:p.A146V	.	415	1104	3	0	0	3	0.00135685	.	.	.	3327922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00333486775988	.	.	5.044e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs767890393	9.79e-05	9.371e-05	9.165e-05	0.0001	0.0002	8.453e-05	7.922e-05	9.576e-05	8.965e-05	0	2.801e-05	0	0	0	0.0002	0.0001	0.0001	0.0001	9.193e-05	9.187e-05	0.0001	8.057e-05	0.0002	5.524e-05	4.362e-05	0.0001	7.894e-05	2.406e-05	0	6.543e-05	0	0	0	0	0.0002	0	0	0.113	0.28772	T	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-2.18	0.49187	N	0.066	0.03841	-1.0667	0.10154	T	0.068	0.27947	T	9	0.27722928	0.45289	T	0.003335	0.07421	T	0.071	0.20720	0.375	0.38830	0.0401082797425	0.02173	0.15271693007947293	0.15193	.	.	0.240844935179	0.02867	T	.	.	.	-0.549729	0.00293	T	-0.779115	0.02480	T	0.386926829814911	0.28448	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31456	B	.;.	.;.	0.010319	0.04355	1.114	0.99473424136500121	0.66472	0.02745	0.07425	N	AEFDBI	0.034078	0.04159	N	-0.421468913752917	0.24717	1.33665	-0.764725639681333	0.15361	0.8074976	1.61352240503817E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	4.01	-4.57	0.03178	-0.315000	0.08122	.	.	-0.124000	0.13482	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.1754:0.0:0.2695:0.5552	5.237	0.14771	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2140.33	164	chr19	54074165	.	G	A	2140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=788;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.99;SOR=0.48	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	18	0	1	0
chr19	54074944	54074944	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G241A:p.E81K,TARM1:NM_001330650:exon3:c.G265A:p.E89K	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0002	0.00239617	0.0037	0	0	0	0	0.0001	0.0053	0.0090	0.0006598	102	154602	rs2361558	0.0010	0.0010	0.0008	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	0.0001	0.0002	0	0.0002	6.088e-05	0.0037	0.0005	0.0009	0.0092	0.0007	0.0007	0.0006	0.0008	0.0106	0.0006	0.0005	0.0083	0.0075	0.0002	0	0.0002	0.0003	0.0008	0	0	0.0004	0.0019	0.0106	0.331	0.13088	T	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.44	0.53420	N	0.114	0.10198	-0.8948	0.48502	T	0.002	0.00769	T	9	0.00880295	0.00199	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.42401353879973813	0.42318	.	.	0.301901340485	0.10684	T	.	.	.	-0.642795	0.00080	T	-0.690275	0.06373	T	0.00751033893248963	0.00087	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41495	B	.;.	.;.	0.687277	0.10558	7.267	0.86566229100844183	0.16622	0.03546	0.08744	N	AEFBI	0.037680	0.05218	N	-1.41366592332775	0.02518	0.1113028	-1.45502494045766	0.02725	0.1258528	1.67188451860623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	0.242	0.14759	-0.482000	0.06623	.	.	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6639:0.0:0.3361	6.107	0.19301	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1083.33	44	chr19	54074944	.	C	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.807;SOR=0.64	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1097,0,1017	18	0	1	0
chr19	54110113	54110113	C	A	exonic	TFPT	.	nonsynonymous SNV	TFPT:NM_001321792:exon3:c.G264T:p.E88D,TFPT:NM_013342:exon3:c.G291T:p.E97D	.	425	1095	1	1	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0105274430903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.029	0.54934	D	0.449	0.36046	B	0.107	0.31211	B	0.000015	0.62929	D	0.066116	0.991445	0.41390	D	2.045	0.56016	M	.	.	.	-2.22	0.51968	N	0.739	0.75466	-0.7641	0.57182	T	0.176	0.52021	T	9	0.5380887	0.63562	D	0.010527	0.27174	T	0.500	0.78350	0.227	0.15257	0.477451190609	0.47374	0.3989632008489127	0.39811	0.11825938987	0.13311	0.881201386452	0.94122	D	0.385167	0.74663	T	0.199412	0.73837	D	0.0486651	0.73496	D	0.812300264835358	0.47211	D	0.839616	0.53499	T	0.22584744	0.45254	0.21814546	0.46507	0.22584744	0.45254	0.21814546	0.46506	-7.117	0.56053	T	.	.	0.933	0.85360	P	.;.;.	.;.;.	3.255303	0.44492	21.9	0.99604103539606059	0.74397	0.84778	0.43867	D	AEFBCI	0.418422	0.48606	N	0.031851573189246	0.43307	2.626307	0.0809927059105187	0.43594	2.657882	0.997980559126403	0.36275	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.54	3.5	0.39181	2.705000	0.46795	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.912:0.0:0.088	11.892	0.51913	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1005.33	41	chr19	54110113	.	C	A	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.133;DP=828;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.863;SOR=0.74	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr19	54148193	54148193	C	T	exonic	CNOT3	.	nonsynonymous SNV	CNOT3:NM_014516:exon11:c.C940T:p.P314S	.	389	1119	13	1	0	15	0.00665779	.	.	YES	1628653	CNOT3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0222096333131	0.0037	0.00159744	0.0054	0.0025	0.0019	0	0.0027	0.0074	0.0033	0.0048	0.0026132	404	154602	rs138658963	0.0052	0.0052	0.0053	0.0052	0.0073	0.0051	0.0051	0.0059	0.0058	0.0009	0.0015	0.0054	0	0.0005	0.0073	0.0060	0.0046	0.0036	0.0032	0.0032	0.0035	0.0029	0.0051	0.0030	0.0029	0.0047	0.0045	0.0013	0.0110	0.0024	0.0046	0.0002	0.0002	0.0034	0.0051	0.0019	0.0039	0.036	0.43393	D	0.471	0.13365	T	0.002	0.12183	B	0.001	0.06944	B	0.000008	0.62929	N	0.065721	0.76438	0.29505	N	1.5	0.37844	L	0.86	0.46777	T	-1.19	0.30346	N	0.069	0.10769	-1.0342	0.19109	T	0.083	0.32700	T	10	0.005390525	0.00118	T	0.02221	0.45075	T	0.102	0.29158	.	.	0.174091166621	0.17034	0.1930465750432004	0.19222	.	.	0.463683694601	0.33816	T	0.03755	0.24515	T	-0.539018	0.00340	T	-0.544704	0.17838	T	0.00815008209077879	0.00097	T	0.764923	0.39255	T	0.119813405	0.28204	0.09031037	0.21169	0.090688154	0.21227	0.08712826	0.20231	-2.948	0.09632	T	.	.	0.057	0.01215	B	.;.;.;.;.	.;.;.;.;.	2.464388	0.31755	18.84	0.99792661509484726	0.87839	0.82064	0.41350	D	AEFBCI	0.264509	0.38183	N	-0.668929099185233	0.16911	0.8657512	-0.514100595594397	0.21770	1.179267	0.219984158388403	0.18344	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.43	2.39	0.28492	1.233000	0.32250	.	.	-0.319000	0.05888	0.488000	0.26863	0.978000	0.30204	0.994000	0.71098	0.0:0.8945:0.0:0.1055	9.885	0.40424	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004545	0.000000	0.004076	0.008772	0.000000	0.017241	0.000000	0.007576	0.02632	1128.33	36	chr19	54148193	.	C	T	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.28;SOR=0.741	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1142,0,1423	18	0	1	0
chr19	54155817	54155817	T	G	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.A699C:p.E233D	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00331538677278	0.0009	0.000599042	0.0009	0.0008	0.0007	0.0023	0	0.0009	0.0027	0.0005	0.000705	109	154602	rs146921339	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0008	0.0008	0	0.0013	1.9e-05	0.0042	0.0005	0.0008	0.0005	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0004	0.0010	0.0007	0.0008	0	0.0003	0	0.0012	0	0.0034	0.0005	0.0009	0.0019	0.41	0.10148	T	0.202	0.27414	T	.	.	.	.	.	.	0.000931	0.00711	N	10.451800	0.999996	0.08975	N	.	.	.	0.82	0.48142	T	-1.1	0.28497	N	0.09	0.06854	-0.9557	0.39970	T	0.169	0.50842	T	10	0.004676223	0.00098	T	0.003315	0.07359	T	0.062	0.17934	0.11	0.02049	0.33835085245	0.33439	0.16810999960807635	0.16730	0.0208642183432	0.02063	0.48943144083	0.37359	T	.	.	.	-0.579198	0.00195	T	-0.623769	0.10891	T	0.0190144803108184	0.00610	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	-0.575392	0.01640	0.114	0.97684303309218157	0.35335	0.15684	0.19032	N	AEFDBHCI	0.093529	0.18923	N	-1.2269822642748	0.04612	0.2085157	-1.38205659021072	0.03443	0.160615	0.999945673737073	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.17	-2.72	0.05616	-3.251000	0.00597	.	.	-0.915000	0.02235	0.000000	0.06391	0.052000	0.21854	0.003000	0.05239	0.0:0.3636:0.1387:0.4978	5.792	0.17630	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001517	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1302.83	37	chr19	54155817	.	T	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.132;DP=756;ExcessHet=0.119;FS=2.009;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.376;SOR=0.891	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1021	17	0	2	0
chr19	54168590	54168590	A	G	exonic	TMC4	.	nonsynonymous SNV	TMC4:NM_001145303:exon4:c.T551C:p.M184T,TMC4:NM_144686:exon4:c.T533C:p.M178T	.	138	1368	13	3	0	19	0.00689655	.	.	.	3199367	TMC4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.225	.	0.0042	0.00279553	0.0064	0.0026	0.0105	0	0	0.0103	0.0033	0.0008	0.0027684	428	154602	rs149646954	0.0050	0.0050	0.0051	0.0049	0.0060	0.0049	0.0049	0.0059	0.0058	0.0005	0.0041	0.0009	0	0.0002	0.0051	0.0060	0.0046	0.0011	0.0037	0.0037	0.0040	0.0034	0.0060	0.0035	0.0034	0.0053	0.0051	0.0012	0.0077	0.0060	0.0006	0	0.0003	0.0136	0.0058	0.0071	0.0006	0.005	0.63226	D	0.006	0.70582	D	.	.	.	.	.	.	0.001516	0.38793	N	0.253870	0.999976	0.18612	N	.	.	.	0.75	0.50192	T	-2.73	0.58085	D	0.605	0.62273	-0.9365	0.43164	T	0.092	0.35174	T	10	0.007901251	0.00179	T	.	.	.	0.225	0.52323	.	.	0.559581285787	0.55619	0.8243231750012319	0.82390	.	.	0.669213414192	0.62726	T	0.102525	0.41034	T	-0.368319	0.03680	T	-0.300061	0.44719	T	0.0450424498738276	0.04610	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50636	B	.;.;.	.;.;.	2.951803	0.39279	20.9	0.95013025864251044	0.25987	0.79004	0.39069	D	AEFDGBHCI	0.651639	0.62532	D	0.0648902163605663	0.44830	2.749981	0.0963255889416618	0.44362	2.719551	0.99999999999992	0.74766	0.685219	0.55550	0	0.567169	0.20442	1	0.674405	0.61402	0	0.636	0.56748	0	.	.	4.2	4.2	0.48814	4.217000	0.58344	.	.	0.741000	0.86335	0.997000	0.40164	1.000000	0.68203	0.052000	0.15357	1.0:0.0:0.0:0.0	10.036	0.41301	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005061	0.000000	0.008174	0.002924	0.000000	0.008772	0.006173	0.003788	0.02632	401.33	44	chr19	54168590	.	A	G	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.745;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	18	0	1	0
chr19	54172000	54172002	CCC	-	exonic	TMC4	.	nonframeshift deletion	TMC4:NM_001145303:exon2:c.179_181del:p.G60del,TMC4:NM_144686:exon2:c.161_163del:p.54_55del	.	398	1114	8	1	1	11	0.00446828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0182	0.0227636	0.0136	0.0034	0.0363	0.0970	0.0269	0.0019	0.0133	0.0018	0.0046104	120	26028	rs140898828	0.0052	0.0053	0.0055	0.0049	0.0968	0.0051	0.0051	0.0942	0.0932	0.0029	0.0324	0.0027	0.0968	0.0262	0.0003	0.0003	0.0054	0.0016	0.0086	0.0087	0.0066	0.0108	0.0849	0.0082	0.0081	0.0783	0.0757	0.0031	0	0.0221	0.0017	0.0849	0.0284	0	0.0009	0.0095	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.018293	0.003788	0.02632	2120.29	34	chr19	54171999	.	GCCC	G	2120.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=745;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-2.028;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	54181082	54181082	G	T	exonic	MBOAT7	.	nonsynonymous SNV	MBOAT7:NM_001146056:exon4:c.C326A:p.P109H,MBOAT7:NM_001146083:exon5:c.C326A:p.P109H,MBOAT7:NM_001146082:exon6:c.C545A:p.P182H,MBOAT7:NM_024298:exon6:c.C545A:p.P182H	Mental retardation, autosomal recessive 57, Autosomal recessive	396	1125	1	0	0	1	0.000444247	.	.	.	3694636	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.884359265108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221114904	2.915e-06	4.788e-06	4.298e-06	1.483e-06	0.0002	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0.0002	2.81e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.042	0.50226	D	0.989	0.62824	D	0.769	0.58847	P	.	.	.	.	0.519666	0.31886	D	1.895	0.50365	L	-0.67	0.72458	T	-1.26	0.32590	N	0.437	0.47580	-0.5755	0.65795	T	0.298	0.66896	T	9	0.67201495	0.70769	D	0.884359	0.99120	D	0.341	0.66297	0.666	0.80401	0.780972449939	0.77894	0.38604323008647135	0.38519	0.722988490743	0.62316	0.748688876629	0.74254	T	0.045559	0.27160	T	-0.0335732	0.46897	T	-0.286002	0.46187	T	0.727758049964905	0.42094	D	.	.	.	0.08552897	0.19844	0.09703469	0.23080	0.08552897	0.19843	0.09703469	0.23079	-11.541	0.82543	D	.	.	0.271	0.57805	B	.;.;.;.;.	.;.;.;.;.	4.163361	0.62537	24.5	0.99598817704233289	0.74101	0.90310	0.51384	D	AEFDBI	0.713218	0.66609	D	0.294328999250243	0.55861	3.750184	0.271218178536642	0.53865	3.553563	0.962709615942408	0.28640	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	2.93	0.33092	5.452000	0.66380	.	.	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.1002:0.0:0.7232:0.1766	6.726	0.22543	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1136.33	19	chr19	54181082	.	G	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.111;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.307;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	18	0	1	0
chr19	54191847	54191847	A	C	exonic	TSEN34	.	nonsynonymous SNV	TSEN34:NM_001077446:exon2:c.A370C:p.K124Q,TSEN34:NM_001282332:exon3:c.A370C:p.K124Q,TSEN34:NM_001282333:exon3:c.A379C:p.K127Q,TSEN34:NM_024075:exon3:c.A370C:p.K124Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0275816006795	.	.	8.322e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs776731071	2.052e-06	2.052e-06	0	4.125e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.37966	T	0.28	0.32891	T	0.022	0.18677	B	0.006	0.12133	B	0.034756	0.24730	N	0.455087	0.821981	0.34790	D	1.225	0.30651	L	-0.17	0.65931	T	-1.23	0.33197	N	0.347	0.39254	-0.8881	0.49097	T	0.133	0.44524	T	10	0.09420845	0.16733	T	0.027582	0.50373	D	0.042	0.11227	0.219	0.14078	0.578975642517	0.57568	0.28151939844375745	0.28064	0.32683426685	0.34824	0.468437701464	0.34465	T	0.027885	0.20322	T	-0.13454	0.30765	T	-0.431034	0.29817	T	0.308621651455327	0.25357	T	.	.	.	0.14157192	0.32615	0.13958801	0.33300	0.14157192	0.32615	0.13958801	0.33299	-6.504	0.50317	T	.	.	0.113	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	3.275778	0.44858	22.0	0.97263434744095545	0.33102	0.58216	0.30582	D	AEFDGBCIJ	0.362890	0.45198	N	-0.302863199381911	0.29039	1.606859	-0.1361173038422	0.33947	1.947308	0.999999750367955	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.15	4.15	0.47978	2.562000	0.45576	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	11.016	0.46905	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3083.33	35	chr19	54191847	.	A	C	3083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=894;ExcessHet=0;FS=4.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.57;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	18	0	1	0
chr19	54191871	54191871	G	A	exonic	TSEN34	.	nonsynonymous SNV	TSEN34:NM_001077446:exon2:c.G394A:p.G132R,TSEN34:NM_001282332:exon3:c.G394A:p.G132R,TSEN34:NM_001282333:exon3:c.G403A:p.G135R,TSEN34:NM_024075:exon3:c.G394A:p.G132R	.	0	225	1	0	0	1	0.00221729	.	.	.	193675	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0227782339338	0.0004	0.000998403	0.0008	0.0003	0.0003	0	0.0002	0.0005	0	0.0035	0.0007827	121	154602	rs201506921	0.0008	0.0008	0.0007	0.0009	0.0034	0.0008	0.0008	0.0031	0.0030	0.0001	0.0002	0	0	0.0002	0.0007	0.0008	0.0004	0.0034	0.0005	0.0005	0.0005	0.0005	0.0035	0.0004	0.0004	0.0022	0.0018	0.0002	0	0.0003	0	0	9.423e-05	0	0.0007	0.0005	0.0035	0.366	0.22573	T	0.385	0.20228	T	0.0	0.02946	B	0.001	0.04355	B	0.225576	0.16037	N	0.627706	1	0.08975	N	1.01	0.25309	L	-0.08	0.63911	T	0.66	0.02945	N	0.279	0.41360	-0.9919	0.32115	T	0.152	0.48135	T	10	0.0052583218	0.00115	T	0.022778	0.45699	T	0.076	0.22200	0.256	0.19689	0.635861425549	0.63286	0.3677043297206493	0.36684	0.345189148028	0.36432	0.3500187397	0.17925	T	0.007182	0.06595	T	-0.475437	0.00787	T	-0.45813	0.26804	T	0.00741145856944176	0.00085	T	.	.	.	0.035348997	0.04144	0.072385125	0.15610	0.040777344	0.05882	0.068361886	0.14267	-5.584	0.42646	T	.	.	0.094	0.15743	B	.;.;.;.;.;.	.;.;.;.;.;.	2.045579	0.26006	16.96	0.89186984762474364	0.18583	0.59242	0.30861	D	AEFDGBCIJ	0.383081	0.46472	N	-0.593194099568699	0.19150	1.000024	-0.565511699685352	0.20395	1.098611	0.999999708656584	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.29	3.25	0.36363	3.519000	0.53214	.	.	0.672000	0.70159	0.283000	0.25169	0.707000	0.26269	0.076000	0.17014	0.113:0.0:0.887:0.0	8.249	0.30864	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3927.33	35	chr19	54191871	.	G	A	3927.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=982;ExcessHet=0;FS=9.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.107;SOR=1.239	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	18	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	129.31	59	chr19	54221344	.	C	CCGG	129.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.172;DP=1175;ExcessHet=0;FS=63.423;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=31.48;MQRankSum=2.61;QD=1.49;ReadPosRankSum=-0.947;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	18	0	1	0
chr19	54238978	54238978	T	C	exonic	LILRA6	.	nonsynonymous SNV	LILRA6:NM_001360167:exon8:c.A1412G:p.N471S,LILRA6:NM_024318:exon8:c.A1421G:p.N474S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00057529762878	.	.	0.0002	0.0017	0.0003	0	0	1.501e-05	0	6.101e-05	0.0001423	22	154602	rs147389030	3.355e-05	6.364e-05	2.861e-05	3.854e-05	0.0007	2.568e-05	2.314e-05	0.0005	0.0004	0.0007	0.0002	0	0	0	0.0002	2.699e-06	0.0002	4.642e-05	0.0002	0.0003	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0003	0	0	0	0.0102	1.473e-05	0	0	1.0	0.00964	T	0.631	0.07999	T	.	.	.	.	.	.	0.000510	0.00624	N	5.998240	1	0.08975	N	.	.	.	7.05	0.00460	T	0.6	0.03090	N	0.036	0.02462	-0.9533	0.40398	T	0.000	0.00114	T	10	0.013023704	0.00278	T	5.75E-4	0.00233	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.06075396193350061	0.06015	0.0120316169813	0.01140	.	.	.	0.001787	0.01205	T	-0.605682	0.00135	T	-0.762859	0.03011	T	0.0046834428794682	0.00050	T	0.0604939	0.00441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01092	B	.;.	.;.	-0.765111	0.01178	0.057	0.3220183411008406	0.01854	0.00010	0.00151	N	AEFBI	0.021897	0.01029	N	-1.78516449009808	0.00582	0.02509258	-1.71300359116384	0.01081	0.04853732	1.20491433857484E-4	0.05269	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.59	1.52	0.22158	-0.062000	0.11631	.	.	-0.284000	0.06380	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.0:0.6722:0.0:0.3278	4.901	0.13128	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3320.33	34	chr19	54238978	.	T	C	3320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=2178;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.96;ReadPosRankSum=0.233;SOR=0.582	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,106,1482	18	0	1	0
chr19	54240831	54240831	C	G	exonic	LILRA6	.	nonsynonymous SNV	LILRA6:NM_001360167:exon5:c.G946C:p.G316R,LILRA6:NM_024318:exon5:c.G955C:p.G319R	.	.	.	.	.	.	.	.	0.9779	0.83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0013	0.00359425	0.0008	0.0106	0.0004	0	0	0	0.0012	0	0.0008068	21	26028	rs371118566	0.0001	0.0003	0.0001	8.67e-05	0.0042	9.408e-05	8.89e-05	0.0036	0.0034	0.0042	0.0002	0	0	0	0	0	0.0002	0	0.0011	0.0022	0.0013	0.0010	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0002	0	0	0	0	1.47e-05	0.0014	0	0.01	0.57480	D	0.016	0.61642	D	.	.	.	.	.	.	0.045561	0.23523	N	0.214547	1	0.81001	D	.	.	.	6.79	0.00507	T	-6.51	0.91998	D	0.236	0.26596	-0.9524	0.40555	T	0.007	0.02244	T	9	0.0069912076	0.00159	T	.	.	.	0.094	0.27141	0.675	0.81299	0.130388298395	0.12655	0.3470390334188028	0.34617	2.06502392724	0.94458	.	.	.	0.141961	0.47730	T	-0.53024	0.00383	T	-0.529302	0.19356	T	0.150019981673563	0.17105	T	0.80342	0.45053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.44108	B	.;.	.;.	2.419484	0.31107	18.64	0.81224582278836266	0.13580	0.10545	0.16022	N	AEFI	0.124358	0.24038	N	-0.712876832077353	0.15660	0.7911072	-0.983387990452059	0.10158	0.5098472	0.00252209128091911	0.09503	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.16	-0.134	0.12823	0.007000	0.13074	.	.	-1.218000	0.01343	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7167:0.0:0.2833	6.474	0.21223	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	203.33	43	chr19	54240831	.	C	G	203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.359;DP=1489;ExcessHet=0;FS=4.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.45;MQRankSum=0.347;QD=0.88;ReadPosRankSum=0.038;SOR=0.349	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chr19	54255285	54255285	C	T	splicing	LILRB5	NM_006840:exon5:c.952+1G>A;NM_001081442:exon5:c.952+1G>A;NM_001081443:exon4:c.652+1G>A;NM_001304457:exon5:c.925+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001229	19	154602	rs539625340	5.683e-05	5.678e-05	3.27e-05	8.12e-05	0.0009	4.68e-05	4.305e-05	0.0008	0.0007	2.988e-05	0	0	0	0	0	0	3.315e-05	0.0009	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0947709	0.37290	T	0.04554	0.73290	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	2.797495	0.36791	20.3	0.98518068967490668	0.42434	0.50469	0.28670	D	AEFBI	.	.	.	0.708877960534863	0.80214	7.245105	0.449312393986542	0.64673	4.727928	2.77785661542616E-4	0.06300	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.219179	0.31299	2.78	2.78	0.31702	1.104000	0.30687	.	.	0.424000	0.20830	0.098000	0.22752	0.000000	0.08366	0.214000	0.22296	0.0:1.0:0.0:0.0	9.209	0.36468	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1782.33	38	chr19	54255285	.	C	T	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.331;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.79;MQRankSum=0;QD=17.47;ReadPosRankSum=-0.451;SOR=0.741	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr19	54274798	54274798	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1334T:p.T445I,LILRB2:NM_001080978:exon14:c.C1679T:p.T560I,LILRB2:NM_001278403:exon14:c.C1679T:p.T560I,LILRB2:NM_005874:exon14:c.C1682T:p.T561I	.	10	1511	1	0	0	1	0.000330797	.	.	.	2193765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00471035166838	0.0005	0.000199681	9.885e-05	0.0011	8.637e-05	0	0	0	0	0	9.7e-05	15	154602	rs111579555	5.473e-05	5.472e-05	6.534e-05	4.4e-05	0.0013	4.477e-05	4.147e-05	0.0010	0.0008	0.0013	2.236e-05	0	0	0	0	0	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0.0005	0	0.064	0.38185	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.28	0.00561	T	-3.05	0.65171	D	0.285	0.39254	-0.9821	0.34515	T	0.003	0.01026	T	9	0.056836396	0.06434	T	0.00471	0.11722	T	0.138	0.37187	.	.	0.339316883193	0.33537	0.2502560241872246	0.24939	0.0541991921509	0.05990	0.576643645763	0.49613	T	.	.	.	-0.471694	0.00829	T	-0.50668	0.21657	T	0.0550931821369486	0.06373	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50481	B	.;.;.;.	.;.;.;.	2.334774	0.29912	18.27	0.9711247467198364	0.32417	0.49752	0.28505	N	AEFBI	0.173827	0.30092	N	-0.33866266530532	0.27691	1.521322	-0.391209350245484	0.25258	1.387943	0.226338654326415	0.18414	0.615755	0.39536	0	0.610034	0.51514	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	1.31	0.20837	3.334000	0.51814	.	.	0.601000	0.45875	0.321000	0.25511	0.290000	0.24159	0.255000	0.23391	0.0:0.0:1.0:0.0	6.172	0.19638	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1835.33	33	chr19	54274798	.	G	A	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=764;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.91;MQRankSum=-0.965;QD=15.42;ReadPosRankSum=-0.94;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	18	0	1	0
chr19	54276882	54276882	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon9:c.G1060A:p.V354I,LILRB2:NM_001278405:exon9:c.G1408A:p.V470I,LILRB2:NM_001080978:exon10:c.G1405A:p.V469I,LILRB2:NM_001278403:exon10:c.G1405A:p.V469I,LILRB2:NM_005874:exon10:c.G1408A:p.V470I	.	7	1488	27	0	0	27	0.00899101	.	.	.	2818765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0043	0.0010	0.0008	0.0005	0.0030	0.0035	0.0089	0.0147	0.0037968	587	154602	rs201896387	0.0022	0.0033	0.0019	0.0024	0.0090	0.0021	0.0021	0.0085	0.0083	0.0006	0.0003	0.0093	0.0013	0.0028	0.0057	0.0015	0.0027	0.0090	0.0038	0.0044	0.0038	0.0037	0.0128	0.0035	0.0034	0.0102	0.0093	0.0009	0	0.0005	0.0148	0.0017	0.0054	0	0.0050	0.0038	0.0128	0.41	0.10447	T	0.507	0.10930	T	.	.	.	.	.	.	0.004717	0.01040	N	4.087460	1	0.08975	N	.	.	.	7.18	0.00461	T	-0.01	0.08033	N	0.174	0.20129	-0.9369	0.43103	T	0.001	0.00222	T	10	0.008268654	0.00187	T	.	.	.	0.022	0.04323	.	.	0.0482279557977	0.04254	0.07143803999841027	0.07080	0.0402463030352	0.04312	0.385403037071	0.23020	T	.	.	.	-0.307311	0.07988	T	-0.679208	0.07032	T	0.0112204546630522	0.00165	T	0.533947	0.17813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06114	B	.;.;.;.;.	.;.;.;.;.	-0.935676	0.00867	0.031	0.32542988460209776	0.01891	0.00069	0.00489	N	AEFDGBI	0.033431	0.03963	N	-1.87611417802756	0.00384	0.0165179	-1.94326987473154	0.00401	0.01772593	0.999968844712394	0.48965	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.5	-2.99	0.05164	-3.362000	0.00552	.	.	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2116:0.2835:0.0:0.5049	2.883	0.05304	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007772	0.000000	0.005435	0.010490	0.000000	0.000000	0.009146	0.022727	0.05263	2597.83	35	chr19	54276882	.	C	T	2597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1080;ExcessHet=0.119;FS=3.778;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.5;MQRankSum=-0.696;QD=5.97;ReadPosRankSum=-0.298;SOR=1.018	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1450	17	0	2	0
chr19	54277919	54277919	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon7:c.C931T:p.P311S,LILRB2:NM_001278405:exon7:c.C1279T:p.P427S,LILRB2:NM_001278406:exon7:c.C1279T:p.P427S,LILRB2:NM_001080978:exon8:c.C1279T:p.P427S,LILRB2:NM_001278403:exon8:c.C1279T:p.P427S,LILRB2:NM_005874:exon8:c.C1279T:p.P427S	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00239617	0.0015	0.0101	0	0	0	0.0001	0	0	0.0004075	63	154602	rs148321423	0.0003	0.0003	0.0003	0.0002	0.0063	0.0002	0.0002	0.0055	0.0053	0.0063	0.0005	0	0	0.0002	0.0005	8.942e-05	0.0009	2.57e-05	0.0019	0.0019	0.0018	0.0019	0.0063	0.0017	0.0016	0.0056	0.0054	0.0063	0	0.0006	0	0	9.407e-05	0	0.0001	0.0014	0	0.498	0.07797	T	0.193	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.09	0.00460	T	-1.52	0.38924	N	0.175	0.19459	-0.9670	0.37814	T	0.001	0.00222	T	9	0.0036373734	0.00066	T	.	.	.	0.015	0.02232	.	.	0.104622674875	0.10061	0.10683828809185875	0.10613	0.0456341534263	0.04953	0.264221608639	0.05404	T	.	.	.	-0.660261	0.00063	T	-0.715646	0.05009	T	0.00258418771117385	0.00027	T	0.540746	0.18332	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	-0.697642	0.01326	0.073	0.50950757218013176	0.04475	0.00200	0.01150	N	AEFDBI	0.039096	0.05631	N	-2.22959982801494	0.00066	0.002815392	-2.30280245182774	0.00065	0.002872331	0.999971029731205	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.33	-4.66	0.03090	-1.340000	0.02756	.	.	-2.803000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6203:0.0:0.2089:0.1708	4.700	0.12206	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1320.33	42	chr19	54277919	.	G	A	1320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.656;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1391	18	0	1	0
chr19	54278436	54278436	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon6:c.C734T:p.A245V,LILRB2:NM_001278405:exon6:c.C1082T:p.A361V,LILRB2:NM_001278406:exon6:c.C1082T:p.A361V,LILRB2:NM_001080978:exon7:c.C1082T:p.A361V,LILRB2:NM_001278403:exon7:c.C1082T:p.A361V,LILRB2:NM_005874:exon7:c.C1082T:p.A361V	.	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0042	0.0061901	0.0016	0.0173	0.0010	0	0	7.492e-05	0.0011	6.056e-05	0.0015718	243	154602	rs138762759	0.0006	0.0006	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0009	0	0	0	0.0029	8.633e-05	0.0014	0.0001	0.0042	0.0043	0.0044	0.0040	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0011	0	0	0	0.0102	7.353e-05	0.0038	0	0.015	0.54683	D	0.088	0.40586	T	.	.	.	.	.	.	0.158392	0.03019	N	1.877260	1	0.08975	N	.	.	.	5.82	0.00657	T	-3.34	0.67129	D	0.08	0.06720	-0.9539	0.40292	T	0.002	0.00497	T	10	0.0046879947	0.00098	T	.	.	.	0.034	0.08419	.	.	0.184867976434	0.18130	0.027166945947835926	0.02666	0.146451787718	0.16529	0.356298804283	0.18846	T	.	.	.	-0.560485	0.00252	T	-0.56555	0.15860	T	0.062318565558968	0.07530	T	0.773423	0.40508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26010	B	.;.;.;.;.	.;.;.;.;.	1.406623	0.18215	13.61	0.99570701160646125	0.72379	0.00786	0.03220	N	AEFBI	0.065398	0.12753	N	-0.507497675419497	0.21837	1.161794	-0.792779507590572	0.14673	0.767832	0.993446396406452	0.33218	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.54	-1.9	0.07248	-0.573000	0.05966	.	.	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1597:0.2331:0.3703:0.2369	0.856	0.01108	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004757	0.000000	0.008152	0.008197	0.000000	0.008621	0.000000	0.000000	0.02632	4527.33	36	chr19	54278436	.	G	A	4527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.19;DP=1023;ExcessHet=0;FS=1.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.53;MQRankSum=3.1;QD=12.86;ReadPosRankSum=-1.401;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1453	18	0	1	0
chr19	54278827	54278827	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G592A:p.D198N,LILRB2:NM_001278405:exon5:c.G940A:p.D314N,LILRB2:NM_001278406:exon5:c.G940A:p.D314N,LILRB2:NM_001080978:exon6:c.G940A:p.D314N,LILRB2:NM_001278403:exon6:c.G940A:p.D314N,LILRB2:NM_005874:exon6:c.G940A:p.D314N	.	2	1498	21	1	0	23	0.00761842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0040721279126	.	.	0.0047	0.0016	0.0057	0	0.0020	0.0065	0.0046	0.0020	0.0042302	654	154602	rs41308752	0.0036	0.0088	0.0036	0.0036	0.0063	0.0035	0.0035	0.0049	0.0047	0.0010	0.0055	0.0035	2.519e-05	0.0020	0.0063	0.0039	0.0050	0.0014	0.0072	0.0081	0.0077	0.0067	0.0112	0.0069	0.0067	0.0105	0.0103	0.0023	0.0232	0.0106	0.0052	0	0.0009	0.0204	0.0112	0.0100	0.0012	0.061	0.38407	T	0.031	0.59732	D	.	.	.	.	.	.	0.194525	0.16758	N	0.436516	0.999935	0.20638	N	.	.	.	2.85	0.10578	T	-4.16	0.75456	D	0.206	0.28381	-1.1058	0.03457	T	0.068	0.28047	T	10	0.0119790435	0.00259	T	0.004072	0.09712	T	0.088	0.25558	.	.	0.390531646278	0.38663	0.055722397758538295	0.05513	0.311213502509	0.33432	0.36459839344	0.20054	T	.	.	.	-0.563221	0.00243	T	-0.577099	0.14805	T	0.0507540774842632	0.05632	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.44948	B	.;.;.;.;.	.;.;.;.;.	2.617962	0.34018	19.51	0.99824458133871141	0.90677	0.33003	0.24723	N	AEFBI	0.081112	0.16410	N	-0.105097198048093	0.37170	2.158718	-0.239062979065226	0.30151	1.695123	0.995537370753141	0.34180	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.0	1.9	0.24770	-0.104000	0.10893	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2607:0.7392:0.0:0.0	7.396	0.26107	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004274	0.010309	0.000000	0.004132	0.000000	0.000000	0.009259	0.000000	0.02632	375.33	59	chr19	54278827	.	C	T	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.631;DP=1027;ExcessHet=0;FS=15.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.59;MQRankSum=-4.227;QD=7.66;ReadPosRankSum=-2.93;SOR=0.049	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr19	54278850	54278850	C	G	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G569C:p.C190S,LILRB2:NM_001278405:exon5:c.G917C:p.C306S,LILRB2:NM_001278406:exon5:c.G917C:p.C306S,LILRB2:NM_001080978:exon6:c.G917C:p.C306S,LILRB2:NM_001278403:exon6:c.G917C:p.C306S,LILRB2:NM_005874:exon6:c.G917C:p.C306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00698083086529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.349415	0.13839	N	0.545838	0.999995	0.18612	N	.	.	.	5.86	0.00639	T	-0.98	0.26200	N	0.24	0.27316	-0.9012	0.47868	T	0.002	0.00646	T	10	0.12034735	0.22794	T	0.006981	0.18485	T	0.078	0.22779	0.46	0.52753	0.275641507738	0.27180	0.10838253058347075	0.10767	0.0658763210016	0.07348	0.391128450632	0.23828	T	.	.	.	-0.191428	0.22048	T	-0.51275	0.21033	T	0.23907949413947	0.22377	T	0.888611	0.61875	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.35247	B	.;.;.;.;.	.;.;.;.;.	1.591196	0.20349	14.71	0.85166469751662177	0.15725	0.63717	0.32176	D	AEFBI	0.288131	0.40010	N	-0.699298669911215	0.16042	0.813848	-0.661359548250741	0.17930	0.9556226	0.995245043712255	0.34024	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.87	1.81	0.24139	1.307000	0.33121	.	.	0.543000	0.25316	0.095000	0.22689	0.000000	0.08366	0.003000	0.05239	0.0:0.8395:0.0:0.1605	6.008	0.18785	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2555.33	122	chr19	54278850	.	C	G	2555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.225;DP=2119;ExcessHet=0;FS=2.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=1.44;QD=14.6;ReadPosRankSum=0.931;SOR=0.886	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	18	0	1	0
chr19	54312622	54312622	C	A	splicing	LILRA5	NM_021250:exon2:c.4-1G>T;NM_181985:exon2:c.4-1G>T;NM_181879:exon2:c.4-1G>T;NM_181986:exon2:c.4-1G>T	.	.	.	.	.	.	.	.	.	.	0.9948	0.358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	1.533e-05	0	0.0013	0.0001488	23	154602	rs549778756	7.388e-05	7.388e-05	4.492e-05	0.0001	0.0011	6.248e-05	5.807e-05	0.0009	0.0009	0	0	0	0	0	0.0003	6.295e-06	3.312e-05	0.0011	3.282e-05	3.28e-05	0	6.712e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99988	0.19925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791631	0.00009	T	-0.945278	0.00277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.741221	0.22157	15.50	0.65432511055717513	0.07771	0.09518	0.15256	N	AEFDBCI	.	.	.	-0.26603216248412	0.30468	1.699205	-0.726794490234287	0.16294	0.8613353	0.999937536854262	0.46732	0.126639	0.03142	0	0.110986	0.03372	0	0.135981	0.03733	0	0.057018	0.00518	0	0.111083	0.23698	2.92	-3.93	0.03868	-0.039000	0.12076	.	.	0.484000	0.22197	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1887:0.3146:0.0:0.4966	3.422	0.06969	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2091.33	34	chr19	54312622	.	C	A	2091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.774;SOR=0.659	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr19	54333598	54333598	C	-	exonic	LILRA4	.	frameshift deletion	LILRA4:NM_012276:exon8:c.1474delG:p.V492Wfs*52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4303.29	37	chr19	54333597	.	AC	A	4303.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=937;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.457;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1522	18	0	1	0
chr19	54463304	54463304	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C223T:p.R75C,LENG9:NM_198988:exon1:c.C289T:p.R97C	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0001	0.00499201	0.0117	0.0026	0.0143	0	0	0.0025	0	0.0167	0.0015977	247	154602	rs373060387	0.0014	0.0014	0.0009	0.0019	0.0177	0.0013	0.0013	0.0169	0.0166	0	0.0010	0.0037	2.832e-05	0	0.0023	0.0003	0.0017	0.0177	0.0012	0.0011	0.0009	0.0015	0.0215	0.0010	0.0010	0.0182	0.0169	0.0004	0	0.0010	0.0043	0	0	0.0034	0.0003	0.0009	0.0215	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.095300	0.20131	U	0.483160	0.938785	0.37238	D	.	.	.	.	.	.	.	.	.	0.432	0.47115	-0.9994	0.30087	T	0.089	0.34243	T	10	0.008618861	0.00195	T	.	.	.	.	.	.	.	0.307332253619	0.30352	0.5991197196724157	0.59842	.	.	0.89994341135	0.96435	D	0.336677	0.70616	T	-0.335093	0.05735	T	-0.24114	0.50686	T	0.0886082979198304	0.11052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38480	B	.	.	4.461078	0.69433	25.4	0.99406286846987768	0.63075	0.44479	0.27327	N	ALL	0.247735	0.36826	N	-0.406836011066306	0.25230	1.368023	-0.467280422334379	0.23061	1.255693	0.999999999996529	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.31	1.04	0.19220	2.017000	0.40600	.	.	-0.406000	0.05278	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1142:0.1867:0.6991:0.0	6.438	0.21037	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005371	0.000000	0.001408	0.000000	0.000000	0.009434	0.006711	0.020000	0.02632	352.33	37	chr19	54463304	.	G	A	352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=708;ExcessHet=0;FS=3.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.515;SOR=1.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	18	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.02632	612.33	16	chr19	54463480	.	G	A	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=547;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=-0.747;SOR=0.33	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	18	0	1	0
chr19	54575495	54575495	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C859T:p.H287Y,LILRA2:NM_001130917:exon5:c.C895T:p.H299Y,LILRA2:NM_001290271:exon6:c.C895T:p.H299Y,LILRA2:NM_006866:exon6:c.C895T:p.H299Y	.	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000739428079904	.	.	0.0001	0.0003	0	0	0	6.022e-05	0	0.0005	0.0001035	16	154602	rs748031724	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0.0002	0	0	0	0.0012	0.0001	9.952e-05	0.0005	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0.0209	0.0004	0	0	0	0	0.0002	0	0	0.125	0.27663	T	0.235	0.26145	T	0.007	0.14184	B	0.039	0.27651	B	0.885305	0.08726	N	0.927675	1	0.08975	N	.	.	.	2.67	0.12473	T	-4.01	0.81431	D	0.117	0.11054	-0.9526	0.40520	T	0.025	0.10553	T	10	0.006554544	0.00149	T	7.39E-4	0.00510	T	0.016	0.02506	.	.	0.104622674875	0.10061	0.036418960367871706	0.03588	0.0197447889062	0.01940	.	.	.	0.066437	0.32945	T	-0.519667	0.00442	T	-0.634811	0.10052	T	0.0211344541784294	0.00815	T	0.0553945	0.00400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.16187	B	.;.;.;.;.	.;.;.;.;.	-0.228098	0.02949	0.435	0.6604808880966978	0.07946	0.00302	0.01607	N	AEFBI	0.056871	0.10547	N	-1.26142422653565	0.04151	0.1867884	-1.35960241234403	0.03694	0.1728403	0.997558965748475	0.35751	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.77	-1.62	0.07926	-1.400000	0.02610	.	.	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.496:0.0:0.504	5.76	0.17461	958	0.09170	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1675.33	38	chr19	54575495	.	C	T	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.01;DP=851;ExcessHet=0;FS=5.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.5;MQRankSum=-4.56;QD=22.95;ReadPosRankSum=-0.781;SOR=0.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1470:.	18	0	1	0
chr19	54587233	54587233	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1252A:p.V418M,LILRA2:NM_001130917:exon8:c.G1339A:p.V447M,LILRA2:NM_006866:exon8:c.G1288A:p.V430M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.00998403	0.0052	0	0.0003	0.0001	0	2.997e-05	0	0.0377	0.0045989	711	154602	rs377042732	0.0021	0.0022	0.0012	0.0031	0.0337	0.0021	0.0020	0.0327	0.0323	8.961e-05	4.472e-05	0	5.038e-05	0	0.0007	2.068e-05	0.0029	0.0337	0.0013	0.0014	0.0009	0.0018	0.0395	0.0012	0.0011	0.0349	0.0332	9.63e-05	0	0	0	0.0004	0	0	4.411e-05	0.0014	0.0395	0.208	0.19782	T	0.2	0.27591	T	0.988	0.62325	D	0.808	0.58514	P	0.011403	0.01305	N	3.607130	1	0.18198	N	.	.	.	6.97	0.00494	T	-0.83	0.24460	N	0.205	0.27077	-0.9013	0.47857	T	0.005	0.01615	T	10	0.003334105	0.00058	T	.	.	.	0.121	0.33580	0.434	0.48500	0.361558571881	0.35766	0.09159311947339123	0.09092	0.072316980376	0.08112	.	.	.	0.010693	0.09633	T	-0.580136	0.00192	T	-0.579641	0.14576	T	0.0200827617830714	0.00709	T	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.28116	B	.;.;.;.;.	.;.;.;.;.	1.364680	0.17740	13.34	0.99239800419703561	0.56501	0.01327	0.04579	N	AEFBI	0.069972	0.13873	N	-0.27118351665017	0.30265	1.685982	-0.508387749701442	0.21925	1.188397	1.68489167529508E-4	0.05721	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.69	0.23290	-0.605000	0.05757	.	.	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1792:0.0:0.8208:0.0	4.905	0.13147	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2482.33	34	chr19	54587233	.	G	A	2482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.49;DP=827;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.226;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	18	0	1	0
chr19	54594845	54594845	C	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.C251A:p.P84H,LILRA1:NM_001278318:exon4:c.C251A:p.P84H,LILRA1:NM_006863:exon4:c.C251A:p.P84H	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00148072115708	.	.	0.0001	0	0	0	0	1.498e-05	0.0011	0.0008	9.7e-05	15	154602	rs780771279	7.456e-05	7.456e-05	4.22e-05	0.0001	0.0010	6.315e-05	5.873e-05	0.0008	0.0007	0	0	0	0	0	0.0009	1.709e-05	4.967e-05	0.0010	5.258e-05	5.253e-05	3.854e-05	6.727e-05	0.0004	2.558e-05	1.83e-05	7.282e-05	3.026e-05	7.243e-05	0	0	0	0	0	0	4.411e-05	0	0.0004	0.339	0.25255	T	0.332	0.20037	T	0.047	0.33698	B	0.039	0.35894	B	0.643669	0.05882	N	1.213670	1	0.08975	N	1.52	0.38360	L	2.82	0.10871	T	-2.13	0.67014	N	0.058	0.02964	-0.9750	0.36125	T	0.030	0.13067	T	10	0.029116124	0.01040	T	0.001481	0.02267	T	0.029	0.06676	0.412	0.44887	0.156986980423	0.15292	0.062447551293867185	0.06184	0.0324288653055	0.03388	0.221532315016	0.01400	T	0.00236	0.01759	T	-0.571745	0.00216	T	-0.675832	0.07240	T	0.0477802492425464	0.05105	T	.	.	.	0.0797255	0.18228	0.079492085	0.17899	0.0797255	0.18228	0.079492085	0.17898	-5.246	0.39406	T	.	.	0.109	0.24800	B	.;.	.;.	-0.399053	0.02216	0.223	0.4609022314434566	0.03666	0.00599	0.02675	N	AEFDBI	0.053762	0.09715	N	-1.03074446041235	0.07971	0.3721223	-1.21955037213708	0.05596	0.2670805	0.999948355735034	0.47345	0.609539	0.35627	0	0.493711	0.08144	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.995	0.09699	-1.543000	0.02298	.	.	-1.160000	0.01413	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4382:0.3208:0.241	2.514	0.04380	946	0.12043	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	4554.33	248	chr19	54594845	.	C	A	4554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.681;DP=3227;ExcessHet=0;FS=4.505;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.18;QD=14.93;ReadPosRankSum=-1.765;SOR=0.695	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	18	0	1	0
chr19	54594895	54594895	G	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.G301A:p.G101S,LILRA1:NM_001278318:exon4:c.G301A:p.G101S,LILRA1:NM_006863:exon4:c.G301A:p.G101S	.	14	1505	3	0	0	3	0.000995685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	.	0.00678914	0.0036	0	0.0003	0.0002	0	0	0	0.0259	0.0031565	488	154602	rs201715627	0.0015	0.0015	0.0009	0.0021	0.0237	0.0015	0.0014	0.0229	0.0225	2.987e-05	4.473e-05	0	0.0002	0	0.0007	1.799e-05	0.0020	0.0237	0.0010	0.0010	0.0007	0.0012	0.0265	0.0008	0.0008	0.0228	0.0214	0.0001	0	6.533e-05	0	0.0008	0	0	5.882e-05	0.0014	0.0265	0.393	0.10730	T	0.409	0.14588	T	0.093	0.61523	B	0.083	0.55870	B	0.000000	0.00162	N	8.473480	1	0.08975	N	-0.195	0.04202	N	5.92	0.00621	T	0.1	0.16799	N	0.1	0.08227	-0.9881	0.33077	T	0.003	0.00832	T	10	0.0028571486	0.00046	T	.	.	.	0.091	0.26358	.	.	0.0297737177859	0.01360	0.06064675443020376	0.06004	0.0258598480746	0.02640	0.232274666429	0.02141	T	1.63E-4	0.00025	T	-0.671528	0.00054	T	-0.717783	0.04904	T	0.0519666922231313	0.05841	T	.	.	.	0.088846505	0.20739	0.09042751	0.21204	0.088846505	0.20739	0.09042751	0.21203	-4.087	0.31856	T	.	.	0.104	0.21653	B	.;.	.;.	-0.900205	0.00925	0.035	0.86717309694172229	0.16725	0.00044	0.00357	N	AEFBI	0.033420	0.03961	N	-1.61299750278277	0.01201	0.05221125	-1.78236775774007	0.00817	0.03649151	0.999920003164853	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-3.387000	0.00542	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3495:0.0:0.1803:0.4702	2.108	0.03472	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3296.33	158	chr19	54594895	.	G	A	3296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=2948;ExcessHet=0;FS=3.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.956;QD=12.58;ReadPosRankSum=1.29;SOR=0.512	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	18	0	1	0
chr19	54664344	54664344	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon3:c.G601A:p.G201R,LILRB4:NM_001278426:exon4:c.G514A:p.G172R,LILRB4:NM_001278427:exon4:c.G514A:p.G172R,LILRB4:NM_001278428:exon4:c.G514A:p.G172R,LILRB4:NM_001278430:exon4:c.G514A:p.G172R	.	19	1498	5	0	0	5	0.00166611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0068	0.0191693	0.0067	0.0236	0.0020	0.0006	0	5.994e-05	0.0033	0.0321	0.0061966	958	154602	rs73933937	0.0025	0.0025	0.0018	0.0032	0.0293	0.0024	0.0024	0.0283	0.0279	0.0213	0.0015	0	0.0005	0	0.0014	4.946e-05	0.0041	0.0293	0.0073	0.0074	0.0072	0.0075	0.0326	0.0070	0.0068	0.0284	0.0268	0.0219	0	0.0019	0	0.0008	0	0.0068	0.0001	0.0043	0.0326	0.605	0.08736	T	0.565	0.09522	T	0.016	0.21573	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	3.98	0.03297	T	0.68	0.02993	N	0.04	0.01498	-0.9357	0.43288	T	0.002	0.00615	T	9	0.0030515492	0.00050	T	.	.	.	0.035	0.08770	0.392	0.41606	0.0401082797425	0.02173	0.09292834520391914	0.09224	0.0203699966938	0.02001	0.246832832694	0.03441	T	0.002467	0.02055	T	-0.781241	0.00011	T	-0.87129	0.00730	T	0.00241988296629841	0.00025	T	0.0383962	0.00307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.08176	B	.;.;.;.;.	.;.;.;.;.	-1.072412	0.00674	0.019	0.46353977768677107	0.03707	0.00345	0.01785	N	AEFDBI	0.068173	0.13435	N	-1.5097519095116	0.01785	0.0782166	-1.59689825112048	0.01674	0.07602943	0.927986926974901	0.26910	0.660085	0.49399	0	0.662677	0.63036	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-3.85	0.03964	-4.634000	0.00237	.	.	-2.589000	0.00238	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1753:0.2196:0.221:0.3842	0.440	0.00452	793	0.45818	.;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	3574.33	144	chr19	54664344	.	G	A	3574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=1314;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.312;SOR=0.878	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E,LILRB4:NM_001278426:exon11:c.G1142A:p.G381E,LILRB4:NM_001278427:exon11:c.G1139A:p.G380E,LILRB4:NM_001278428:exon11:c.G1142A:p.G381E	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005637	0.025641	0.001370	0.000000	0.000000	0.008621	0.010135	0.012000	0.02632	498.33	61	chr19	54667735	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.035;DP=1391;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.36;MQRankSum=-7.126;QD=3.86;ReadPosRankSum=-1.359;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,117,1800:.	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:487,56:543:52:52,0,15785	8	0	11	0
chr19	54743887	54743887	T	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291696:exon3:c.T163A:p.Y55N,KIR2DS2:NM_001291695:exon4:c.T463A:p.Y155N,KIR2DS2:NM_001291701:exon4:c.T463A:p.Y155N,LOC102725023:NM_001360171:exon4:c.T463A:p.Y155N,KIR2DS2:NM_012312:exon4:c.T463A:p.Y155N,KIR2DS3:NM_012313:exon4:c.T463A:p.Y155N,KIR2DL1:NM_014218:exon4:c.T463A:p.Y155N,KIR2DL2:NM_014219:exon4:c.T463A:p.Y155N,KIR2DL3:NM_015868:exon4:c.T463A:p.Y155N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000889042019963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	2.15	0.60148	M	2.74	0.11730	T	-5.1	0.83027	D	0.222	0.24883	-1.0593	0.11931	T	0.074	0.29834	T	9	0.29892975	0.47448	T	8.89E-4	0.00822	T	0.027	0.05988	0.402	0.43245	0.542144099713	0.53867	0.041176315704600626	0.04062	4.31666214769	0.99941	.	.	.	0.018514	0.14910	T	-0.274912	0.11215	T	-0.632669	0.10213	T	0.839466571807861	0.49284	D	.	.	.	0.74634093	0.80657	0.5571823	0.74385	0.74634093	0.80658	0.5571823	0.74386	-11.174	0.80604	D	.	.	0.365	0.57542	A	.	.	2.335514	0.29927	18.28	0.96314295241925918	0.29393	0.00278	0.01504	N	AEFBI	0.027567	0.02277	N	-0.420351824209375	0.24757	1.33902	-0.757994396769074	0.15526	0.8169825	1.65261795707536E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.28	0.054	0.13623	0.385000	0.20413	.	.	0.539000	0.25131	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4595:0.0:0.0:0.5405	3.368	0.06789	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	166.33	262	chr19	54743887	.	T	A	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=3687;ExcessHet=0;FS=4.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.18;MQRankSum=-1.816;QD=0.55;ReadPosRankSum=-4.617;SOR=1.159	GT:AD:DP:GQ:PL	0/0:269,0:269:99:0,120,1800	18	0	1	0
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D	.	472	988	53	9	0	71	0.0346849	.	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	196.84	76	chr19	54752248	.	A	G	196.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=898;ExcessHet=0.119;FS=12.7;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=39.49;MQRankSum=-1.282;QD=28.12;ReadPosRankSum=-1.282;SOR=3.912	GT:AD:DP:GQ:PL	0/1:4,1:5:30:30,0,155	17	0	2	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2288,246,0	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2125,230,0	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,72:72:99:1|1:54752445_C_T:3221,217,0:54752445	10	3	6	0
chr19	54752476	54752476	C	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C983G:p.T328R	.	446	1073	3	0	0	3	0.001396	.	.	.	2761862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	.	.	0.000998403	0.0010	0	0	0	0	0	0	0.0086	0.0007827	121	154602	rs560363669	0.0004	0.0003	0.0002	0.0005	0.0062	0.0003	0.0003	0.0058	0.0056	0	0	0	0	0	0.0002	9.835e-07	0.0003	0.0062	0.0002	0.0002	5.83e-05	0.0003	0.0053	0.0001	0.0001	0.0035	0.0029	0	0	0	0	0	0	0	4.931e-05	0.0006	0.0053	0.0	0.91255	D	0.117	0.36365	T	0.988	0.62325	D	0.905	0.64260	P	.	.	.	.	1	0.08975	N	2.72	0.79541	M	7.22	0.00432	T	-2.82	0.59545	D	0.069	0.04188	-0.9459	0.41665	T	0.004	0.01330	T	9	0.008415073	0.00191	T	.	.	.	0.038	0.09825	0.367	0.37524	0.421184727016	0.41734	0.08625163816783217	0.08559	0.509313189042	0.49072	.	.	.	0.092339	0.38983	T	-0.581615	0.00188	T	-0.60324	0.12541	T	0.12912573172012	0.15300	T	.	.	.	0.1692188	0.37425	0.19473897	0.43114	0.1692188	0.37425	0.19473897	0.43113	-7.18	0.55337	T	.	.	0.084	0.09723	B	.	.	1.009164	0.13879	10.44	0.94926727689599499	0.25806	0.01071	0.03965	N	AEFI	0.029503	0.02796	N	-0.261535751272973	0.30646	1.710708	-0.615044021476527	0.19107	1.023687	2.73389013816173E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.772000	0.04800	.	.	0.426000	0.20854	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.189	0.14522	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001147	0.000000	0.002915	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6524.33	398	chr19	54752476	.	C	G	6524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=3380;ExcessHet=0;FS=1.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=8.99;QD=10.42;ReadPosRankSum=1.75;SOR=0.574	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	18	0	1	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:54752482_T_C:2066,138,0:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:29:87:1|1:54752511_G_A:1246,87,0:54752511	11	3	5	0
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4512.83	155	chr19	54758607	.	G	C	4512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.316;DP=1668;ExcessHet=0.119;FS=16.662;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=37.38;MQRankSum=5.86;QD=16.84;ReadPosRankSum=-0.176;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	17	0	2	0
chr19	54758623	54758623	-	GGGGG	exonic	LOC112267881	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	33.29	155	chr19	54758623	.	C	CGGGGG	33.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.295;DP=2144;ExcessHet=0;FS=31.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.86;MQRankSum=-1.45;QD=0.34;ReadPosRankSum=1.2;SOR=4.996	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr19	54758647	54758647	C	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs560926190	0.0030	0.0068	0.0030	0.0029	0.0037	0.0029	0.0029	0.0034	0.0032	0.0010	0.0008	0.0008	0.0002	0.0051	0.0016	0.0032	0.0025	0.0037	0.0032	0.0094	0.0029	0.0034	0.0046	0.0029	0.0028	0.0033	0.0031	0.0019	0	0.0025	0.0027	0.0010	0.0065	0	0.0037	0.0043	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3143.33	155	chr19	54758647	.	C	G	3143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=2028;ExcessHet=0;FS=8.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.6;MQRankSum=-2.86;QD=13.49;ReadPosRankSum=-0.311;SOR=1.193	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	18	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,22:202:99:0|1:54760643_A_G:382,0,7319:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,24:206:99:0|1:54760643_A_G:460,0,7546:54760643	10	0	9	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	2922.43	425	chr19	54760659	.	G	A	2922.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.983;DP=3060;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=53.4;MQRankSum=-4.823;QD=2.4;ReadPosRankSum=0.781;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,24:208:99:0|1:54760643_A_G:454,0,7654:54760643	15	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,26:208:99:0|1:54760643_A_G:544,0,7564:54760643	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,26:204:99:0|1:54760643_A_G:556,0,7396:54760643	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,26:194:99:0|1:54760643_A_G:586,0,6973:54760643	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:99:0|1:54760643_A_G:604,0,6721:54760643	10	0	9	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	130.33	627	chr19	54767322	.	C	T	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=3529;ExcessHet=0;FS=5.732;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=58.51;MQRankSum=-13.16;QD=0.42;ReadPosRankSum=-1.57;SOR=1.301	GT:AD:DP:GQ:PL	0/0:203,0:203:99:0,120,1800	18	0	1	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	256.27	627	chr19	54767339	.	G	A	256.27	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.602;DP=4070;ExcessHet=0.3672;FS=4.083;InbreedingCoeff=-0.0841;MLEAC=3;MLEAF=0.079;MQ=58.47;MQRankSum=-16.78;QD=0.23;ReadPosRankSum=-0.476;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800:.	16	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	286.8	627	chr19	54767342	.	T	C	286.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.588;DP=4068;ExcessHet=0.3672;FS=2.365;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=58.46;MQRankSum=-16.82;QD=0.25;ReadPosRankSum=0.347;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800:.	16	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	184.8	627	chr19	54767348	.	TC	T	184.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.158;DP=4053;ExcessHet=0.119;FS=2.377;InbreedingCoeff=-0.0447;MLEAC=1;MLEAF=0.026;MQ=58.53;MQRankSum=-16.73;QD=0.23;ReadPosRankSum=1.19;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800:.	17	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	265.17	627	chr19	54767351	.	AAAG	A	265.17	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.884;DP=4058;ExcessHet=0.119;FS=1.055;InbreedingCoeff=-0.0655;MLEAC=2;MLEAF=0.053;MQ=58.48;MQRankSum=-16.72;QD=0.57;ReadPosRankSum=1.62;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:203,0:203:99:.:.:0,120,1800:.	17	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	61238.5	606	chr19	54767353	.	A	*	61238.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=4856;ExcessHet=0.0068;FS=0;InbreedingCoeff=0.4797;MLEAC=2;MLEAF=0.053;MQ=59.21;MQRankSum=0;QD=17.68;ReadPosRankSum=0.973;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:271:99:.:.:8140,8703,10280:.	17	0	2	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I,KIR2DL1:NM_014218:exon1:c.G16A:p.V6I	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	820.92	254	chr19	54769866	.	G	A	820.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.87;DP=3217;ExcessHet=0.3672;FS=5.699;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=55.49;MQRankSum=-5.542;QD=1.04;ReadPosRankSum=-4.121;SOR=1.449	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	15	0	3	1
chr19	54770861	54770861	T	-	exonic	KIR2DL1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon2:c.47delT:p.L16fs,KIR2DL1:NM_014218:exon2:c.47delT:p.L16fs,KIR2DS5:NM_014513:exon2:c.47delT:p.L16fs	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0013	0	0	0	0	0	0	0.0131	0.0002689	7	26028	rs559429882	0.0002	0.0003	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0029	0	0	0	0	0	0.0002	0	0.0002	0.0034	0.0001	0.0001	5.262e-05	0.0002	0.0036	8.368e-05	6.89e-05	0.0023	0.0019	0	0	0	0	0	0	0	1.511e-05	0.0005	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2772.29	76	chr19	54770860	.	CT	C	2772.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.123;DP=1968;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0.839;QD=7.37;ReadPosRankSum=0.659;SOR=0.69	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	18	0	1	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	11554.4	606	chr19	54773464	.	G	C	11554.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.09;DP=5593;ExcessHet=1.3;FS=3.783;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.56;MQRankSum=-17.89;QD=3.48;ReadPosRankSum=-1.139;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:270,0:270:99:.:.:0,120,1800:.	14	0	5	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	19496.4	634	chr19	54773510	.	C	G	19496.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.64;DP=6108;ExcessHet=1.3;FS=2.296;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.51;MQRankSum=-21.25;QD=5.16;ReadPosRankSum=3.43;SOR=0.964	GT:AD:DP:GQ:PL	0/0:280,0:280:99:0,120,1800	14	0	5	0
chr19	54773564	54773564	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.A302G:p.Y101C,KIR2DL1:NM_014218:exon3:c.A302G:p.Y101C,KIR2DS1:NM_014512:exon3:c.A302G:p.Y101C,KIR2DS5:NM_014513:exon3:c.A302G:p.Y101C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.000863671339628	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325687149	4.745e-05	5.323e-05	5.417e-05	4.067e-05	0.0002	3.803e-05	3.48e-05	3.887e-05	3.482e-05	0	6.809e-05	0.0002	0	0	0.0002	4.963e-05	0.0001	0	6.052e-05	6.652e-05	7.882e-05	4.134e-05	7.545e-05	3.142e-05	2.357e-05	2.903e-05	1.899e-05	0	0	0	0.0012	0	0	0	7.545e-05	0	0	0.0	0.91255	D	0.107	0.37730	T	0.996	0.68779	D	0.93	0.66466	D	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	-6.06	0.90060	D	0.284	0.32148	-1.0114	0.26478	T	0.130	0.43968	T	9	0.3169551	0.49111	T	8.64E-4	0.00755	T	0.071	0.20720	0.612	0.74535	0.527045900269	0.52351	0.07904860219455756	0.07839	1.18328293577	0.80071	0.537164568901	0.44045	T	0.039973	0.25372	T	-0.140201	0.29857	T	-0.439165	0.28903	T	0.715964019298553	0.41495	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.48715	B	.;.	.;.	1.642754	0.20964	14.99	0.98088105165213713	0.38165	0.00854	0.03405	N	AEFBI	0.071146	0.14151	N	-0.280230349582137	0.29911	1.663065	-0.646879855518034	0.18295	0.9767228	1.1568211258588E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.052	0.13615	-0.577000	0.05940	.	.	-1.153000	0.01422	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.629:0.0:0.0:0.371	3.265	0.06457	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5193.33	390	chr19	54773564	.	A	G	5193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=5675;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.13;MQRankSum=2.54;QD=6.62;ReadPosRankSum=0.104;SOR=0.625	GT:AD:DP:GQ:PL	0/0:263,0:263:99:0,120,1800	18	0	1	0
chr19	54775215	54775215	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G421A:p.A141T,KIR2DL1:NM_014218:exon4:c.G421A:p.A141T,KIR2DS1:NM_014512:exon4:c.G421A:p.A141T,KIR2DS5:NM_014513:exon4:c.G421A:p.A141T	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00117393255529	0.0011	0.000798722	0.0016	0	0	0	0.0013	0.0025	0	0.0011	0.0011837	183	154602	rs145961423	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0011	0.0011	3e-05	0.0002	3.856e-05	0	0.0007	0.0009	0.0012	0.0012	0.0006	0.0010	0.0011	0.0013	0.0008	0.0018	0.0009	0.0009	0.0016	0.0015	0.0002	0	0.0005	0	0	0.0012	0	0.0018	0.0010	0.0009	0.0	0.91255	D	0.289	0.32675	T	0.092	0.25296	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	5.79	0.00674	T	-1.3	0.32991	N	0.042	0.01498	-0.9599	0.39199	T	0.004	0.01295	T	9	0.017508984	0.00374	T	0.001174	0.01484	T	0.047	0.12962	.	.	0.260249123532	0.25628	0.028690834850511153	0.02819	1.00069180223	0.74397	0.299282133579	0.10294	T	0.015341	0.12888	T	-0.409288	0.02009	T	-0.570644	0.15391	T	0.023345254044341	0.01064	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.22969	B	.;.	.;.	-0.119776	0.03524	0.670	0.92586597089231137	0.22045	0.00179	0.01050	N	AEFBI	0.026577	0.02021	N	-0.96526322081052	0.09353	0.4423121	-1.16727201946587	0.06463	0.3111972	1.74648239061446E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	-0.529	0.11307	-1.657000	0.02081	.	.	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.4242:0.5758	3.676	0.07827	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000563	0.000000	0.004286	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3152.33	316	chr19	54775215	.	G	A	3152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.542;DP=5420;ExcessHet=0;FS=1.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1.31;QD=11.46;ReadPosRankSum=-0.72;SOR=0.81	GT:AD:DP:GQ:PL	0/0:264,0:264:99:0,120,1800	18	0	1	0
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs,KIR2DL1:NM_014218:exon4:c.488delA:p.E163fs,KIR2DS1:NM_014512:exon4:c.488delA:p.E165Rfs*83,KIR2DS5:NM_014513:exon4:c.488delA:p.E163fs	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	436.29	378	chr19	54775281	.	GA	G	436.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.284;DP=5707;ExcessHet=0;FS=10.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.7;MQRankSum=-7.388;QD=1.46;ReadPosRankSum=-0.847;SOR=1.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,30:299:99:0|1:54775281_GA_G:450,0,11060:54775281	18	0	1	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs,KIR2DL1:NM_014218:exon4:c.495dupG:p.E165fs,KIR2DS1:NM_014512:exon4:c.495dupG:p.A166Gfs*3,KIR2DS5:NM_014513:exon4:c.495dupG:p.E165fs	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	476.1	378	chr19	54775288	.	A	AG	476.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.059;DP=5762;ExcessHet=0;FS=10.934;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=54.71;MQRankSum=-7.452;QD=1.66;ReadPosRankSum=0.009;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,30:286:99:0|1:54775281_GA_G:489,0,10601:54775281	16	0	1	2
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P,KIR2DL1:NM_014218:exon4:c.G506C:p.R169P,KIR2DS1:NM_014512:exon4:c.G506C:p.R169P,KIR2DS5:NM_014513:exon4:c.G506C:p.R169P	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	655.14	378	chr19	54775300	.	G	C	655.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.078;DP=5758;ExcessHet=0;FS=8.514;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=55.1;MQRankSum=-8.018;QD=2.41;ReadPosRankSum=1.78;SOR=1.376	GT:AD:DP:GQ:PL	0/1:239,33:272:99:668,0,7435	16	0	1	2
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D,KIR2DL1:NM_014218:exon4:c.A532G:p.N178D,KIR2DS1:NM_014512:exon4:c.A532G:p.N178D,KIR2DS5:NM_014513:exon4:c.A532G:p.N178D	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	387	chr19	54775326	.	A	G	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.87;DP=5799;ExcessHet=0;FS=8.445;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.51;MQRankSum=-8.159;QD=2.89;ReadPosRankSum=4.05;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,34:257:99:0|1:54775321_A_G:756,0,9221:54775321	18	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T,KIR2DL1:NM_014218:exon4:c.G590C:p.R197T,KIR2DS1:NM_014512:exon4:c.G590C:p.R197T,KIR2DS5:NM_014513:exon4:c.G590C:p.R197T	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	872.33	401	chr19	54775384	.	G	C	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=4809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.73;MQRankSum=-6.151;QD=3.81;ReadPosRankSum=-0.905;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,35:229:99:0|1:54775384_G_C:886,0,7960:54775384	18	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S,KIR2DL1:NM_014218:exon4:c.G598A:p.G200S,KIR2DS1:NM_014512:exon4:c.G598A:p.G200S,KIR2DS5:NM_014513:exon4:c.G598A:p.G200S	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001615	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05263	4807.83	401	chr19	54775392	.	G	A	4807.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=4827;ExcessHet=0.119;FS=4.697;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.07;MQRankSum=-6.235;QD=9.25;ReadPosRankSum=-1.182;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,34:224:99:0|1:54775384_G_C:856,0,7855:54775384	17	0	2	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L,KIR2DL1:NM_014218:exon4:c.T604C:p.F202L,KIR2DS1:NM_014512:exon4:c.T604C:p.F202L,KIR2DS5:NM_014513:exon4:c.T604C:p.F202L	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	665.39	401	chr19	54775398	.	T	C	665.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=4555;ExcessHet=0;FS=1.3;InbreedingCoeff=-0.0308;MLEAC=1;MLEAF=0.026;MQ=54.91;MQRankSum=-6.201;QD=2.98;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,30:223:99:0|1:54775384_G_C:679,0,7967:54775384	18	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,23:218:99:0|1:54775409_T_A:379,0,8119:54775409	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,21:213:99:0|1:54775409_T_A:304,0,7999:54775409	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,19:210:99:0|1:54775409_T_A:223,0,7963:54775409	12	0	7	0
chr19	54783658	54783658	C	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon8:c.C892G:p.Q298E,KIR2DL1:NM_014218:exon8:c.C892G:p.Q298E,KIR2DL2:NM_014219:exon8:c.C892G:p.Q298E	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.000895883735407	.	.	0.0003	0.0002	0.0001	0	0	2.798e-05	0	0.0017	.	.	.	rs766955777	3.968e-05	4.104e-05	3.267e-05	4.676e-05	0.0005	3.113e-05	2.847e-05	0.0004	0.0004	2.987e-05	0	0	2.519e-05	0	0	8.993e-06	1.656e-05	0.0005	7.89e-05	7.88e-05	0.0001	5.385e-05	0.0012	4.499e-05	3.514e-05	0.0005	0.0004	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0012	0.112	0.28900	T	0.065	0.45744	T	0.006	0.13644	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	7.18	0.00492	T	-1.3	0.33998	N	0.191	0.31590	-0.8109	0.54496	T	0.002	0.00769	T	9	0.022644341	0.00571	T	8.96E-4	0.00822	T	0.075	0.21907	0.311	0.28451	0.436780212511	0.43300	0.03217987791316938	0.03165	2.91012196725	0.99100	0.447773337364	0.31640	T	0.051565	0.28916	T	-0.338482	0.05494	T	-0.5323	0.19058	T	0.018877986818552	0.00598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01622	B	.;.	.;.	0.131888	0.05272	1.772	0.96329481011587981	0.29443	0.00898	0.03523	N	AEFDBI	0.046278	0.07667	N	-0.767993547370789	0.14149	0.7025105	-0.923847191844141	0.11532	0.5880643	2.25101053865885E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.08	1.08	0.19456	-0.034000	0.12176	.	.	0.361000	0.20101	0.113000	0.23048	0.000000	0.08366	0.103000	0.18424	0.0:1.0:0.0:0.0	5.543	0.16334	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	12193.8	489	chr19	54783658	.	C	G	12193.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.817;DP=5685;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=0.539;QD=13.18;ReadPosRankSum=-0.434;SOR=0.672	GT:AD:DP:GQ:PL	0/0:433,0:433:99:0,120,1800	17	0	2	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	294.31	34	chr19	54804844	.	A	G	294.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.974;DP=1156;ExcessHet=0.119;FS=7.723;InbreedingCoeff=-0.048;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=-12.63;QD=0.78;ReadPosRankSum=-1.338;SOR=1.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	17	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	309.6	34	chr19	54804865	.	G	T	309.6	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.98;DP=1250;ExcessHet=0.3672;FS=13.344;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=-13.59;QD=0.46;ReadPosRankSum=1.96;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	16	0	3	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	282.3	34	chr19	54804871	.	A	G	282.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.557;DP=1266;ExcessHet=0.119;FS=13.375;InbreedingCoeff=-0.0475;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-13.86;QD=0.64;ReadPosRankSum=2.85;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	17	0	2	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	34	chr19	54804880	.	G	T	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.06;DP=1855;ExcessHet=0.119;FS=15.691;InbreedingCoeff=-0.0552;MLEAC=2;MLEAF=0.053;MQ=58.82;MQRankSum=-14.28;QD=0.55;ReadPosRankSum=3.92;SOR=2.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	17	0	2	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	267.83	34	chr19	54804889	.	A	C	267.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=1915;ExcessHet=0.119;FS=15.664;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-14.59;QD=0.55;ReadPosRankSum=3.3;SOR=2.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	17	0	2	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	392.83	34	chr19	54804898	.	C	G	392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.04;DP=1941;ExcessHet=0.119;FS=15.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-14.93;QD=0.78;ReadPosRankSum=2.77;SOR=2.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	17	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07895	831.79	34	chr19	54804909	.	A	G	831.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=1959;ExcessHet=0.3672;FS=14.196;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.65;MQRankSum=-15.14;QD=1.03;ReadPosRankSum=1.57;SOR=2.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1350:.	16	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2377.43	34	chr19	54804943	.	G	A	2377.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.26;DP=2260;ExcessHet=0.7564;FS=9.528;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.51;MQRankSum=-15.36;QD=2.1;ReadPosRankSum=-3.066;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:244,21:265:99:.:.:113,0,6832:.	15	0	4	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,25:272:99:0|1:54804956_C_G:286,0,10235:54804956	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,26:273:99:0|1:54804956_C_G:348,0,10273:54804956	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,25:271:99:0|1:54804956_C_G:309,0,10228:54804956	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,25:269:99:0|1:54804956_C_G:315,0,10144:54804956	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,39:299:99:0|1:54805010_A_G:855,0,10695:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,39:298:99:0|1:54805010_A_G:858,0,10705:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,44:299:99:0|1:54805010_A_G:1076,0,10487:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,49:293:99:0|1:54805010_A_G:1261,0,9938:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,54:275:99:0|1:54805068_A_G:1522,0,8731:54805068	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,24:275:99:0|1:54805940_TCTC_T:252,0,10467:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,26:281:99:0|1:54805940_TCTC_T:324,0,10629:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,35:311:99:0|1:54805940_TCTC_T:635,0,11403:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,40:327:99:0|1:54805940_TCTC_T:762,0,11598:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,56:413:99:0|1:54806034_C_A:1267,0,14801:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,56:417:99:0|1:54806034_C_A:1255,0,14969:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,55:435:99:0|1:54806034_C_A:1166,0,15791:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,50:440:99:0|1:54806034_C_A:926,0,16226:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,50:437:99:0|1:54806034_C_A:935,0,16100:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,49:432:99:0|1:54806034_C_A:905,0,15935:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:392,47:439:99:0|1:54806034_C_A:794,0,16319:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,44:437:99:0|1:54806034_C_A:665,0,16370:54806034	13	0	6	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	13	0	6	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2223.93	47	chr19	54806184	.	T	C	2223.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=6.11;DP=3906;ExcessHet=0.7564;FS=12.693;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.1;MQRankSum=-17.6;QD=1.71;ReadPosRankSum=0.112;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	14	0	4	1
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2514.93	47	chr19	54806191	.	G	A	2514.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.393;DP=3918;ExcessHet=0.7564;FS=14.521;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.01;MQRankSum=-17.76;QD=1.9;ReadPosRankSum=-2.092;SOR=2.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:329,0:329:99:.:.:0,120,1800:.	14	0	4	1
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	47	chr19	54806230	.	C	T	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.65;DP=1774;ExcessHet=0.119;FS=10.485;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=58.04;MQRankSum=-15.89;QD=0.61;ReadPosRankSum=-0.388;SOR=1.797	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1418	17	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,50:464:99:0|1:54808838_C_T:853,0,17180:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,57:491:99:0|1:54808838_C_T:1087,0,18014:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:430,58:488:99:0|1:54808838_C_T:1141,0,17843:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:416,68:484:99:1608,0,11725	10	0	9	0
chr19	54818396	54818396	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.A152G:p.Y51C,KIR3DL1:NM_001322168:exon3:c.A152G:p.Y51C,LOC112268355:NM_001368254:exon3:c.A152G:p.Y51C,KIR3DL1:NM_013289:exon3:c.A152G:p.Y51C	.	409	1037	58	1	17	77	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0084	0.00499201	0.0082	0.0014	0.0045	0	0.0020	0.0110	0.0037	0.0109	0.0073156	1131	154602	rs145262243	0.0076	0.0076	0.0075	0.0076	0.0103	0.0075	0.0074	0.0082	0.0076	0.0007	0.0039	0.0344	7.56e-05	0.0024	0.0103	0.0078	0.0082	0.0066	0.0051	0.0050	0.0055	0.0048	0.0072	0.0048	0.0047	0.0066	0.0064	0.0012	0.0077	0.0034	0.0362	0	0.0011	0.0034	0.0072	0.0044	0.0059	0.024	0.48186	D	0.033	0.53072	D	0.022	0.18677	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	2.69	0.12268	T	-2.31	0.51319	N	0.146	0.14763	-1.0581	0.12235	T	0.036	0.15334	T	9	0.007935494	0.00180	T	.	.	.	0.061	0.17616	.	.	0.119812018005	0.11559	0.18560298663992075	0.18478	0.528210940665	0.50417	.	.	.	0.002372	0.01768	T	-0.682385	0.00046	T	-0.742588	0.03782	T	0.0381217510769765	0.03354	T	.	.	.	0.19847932	0.41752	0.14993146	0.35380	0.19847932	0.41752	0.14993146	0.35379	-6.516	0.50410	T	.	.	0.183	0.39731	B	.;.	.;.	0.471660	0.08413	5.168	0.89335038371403175	0.18708	0.00128	0.00795	N	AEFDBI	0.048260	0.08217	N	-1.07536318344464	0.07100	0.3288053	-1.33713906919339	0.03960	0.1857968	2.52494180885675E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-2.51	0.05996	-0.314000	0.08132	.	.	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3118:0.4675:0.0:0.2207	2.032	0.03317	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007269	0.010204	0.004190	0.003030	0.000000	0.000000	0.019231	0.000000	0.02632	3470.33	46	chr19	54818396	.	A	G	3470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=2362;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=-1.932;QD=16.37;ReadPosRankSum=0.289;SOR=0.539	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	18	0	1	0
chr19	54819841	54819841	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon2:c.A163G:p.K55E,KIR3DS1:NM_001282170:exon3:c.A199G:p.K67E,KIR3DS1:NM_001083539:exon4:c.A484G:p.K162E,KIR3DL1:NM_001322168:exon4:c.A484G:p.K162E,LOC112268355:NM_001368254:exon4:c.A484G:p.K162E,KIR3DL1:NM_013289:exon4:c.A484G:p.K162E	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0079	0.00758786	0.0039	0.0240	0.0051	0	0	0.0021	0.0047	6.919e-05	0.0033247	514	154602	rs74799106	0.0018	0.0018	0.0020	0.0016	0.0238	0.0017	0.0017	0.0224	0.0219	0.0238	0.0042	0.0096	0	7.496e-05	0.0132	0.0010	0.0036	0.0001	0.0072	0.0073	0.0075	0.0070	0.0218	0.0069	0.0067	0.0206	0.0201	0.0218	0	0.0055	0.0081	0	9.448e-05	0.0170	0.0010	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000021	0.00348	U	59.758900	1	0.08975	N	0.055	0.08163	N	4.17	0.02767	T	1.38	0.00857	N	0.068	0.05799	-0.9400	0.42616	T	0.002	0.00646	T	10	0.003281474	0.00056	T	.	.	.	0.019	0.03383	.	.	0.0666544352282	0.05500	0.034042740829158945	0.03352	0.551944419409	0.52020	.	.	.	9.01E-4	0.00463	T	-0.696912	0.00038	T	-0.856874	0.00877	T	0.00248992741036655	0.00026	T	.	.	.	0.28840446	0.51844	0.12524948	0.30181	0.28840446	0.51843	0.12524948	0.30180	-3.793	0.20700	T	.	.	0.059	0.01179	B	.;.;.	.;.;.	-2.031947	0.00094	0.002	0.038637242315294452	0.00001	0.00080	0.00545	N	AEFDBI	0.024298	0.01482	N	-2.6006158904603	0.00009	0.0004027124	-2.6360180240318	0.00011	0.0004954953	0.0356702924315623	0.14210	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.88	0.05342	-3.279000	0.00585	.	.	-3.459000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4009:0.4462:0.1529:0.0	5.510	0.16163	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015591	0.056122	0.023224	0.016667	0.000000	0.000000	0.000000	0.000000	0.02632	6554.33	431	chr19	54819841	.	A	G	6554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=2920;ExcessHet=0;FS=3.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.926;QD=15.21;ReadPosRankSum=-0.616;SOR=0.962	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	18	0	1	0
chr19	54819908	54819908	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon2:c.C230G:p.P77R,KIR3DS1:NM_001282170:exon3:c.C266G:p.P89R,KIR3DS1:NM_001083539:exon4:c.C551G:p.P184R,KIR3DL1:NM_001322168:exon4:c.C551G:p.P184R,LOC112268355:NM_001368254:exon4:c.C551G:p.P184R,KIR3DL1:NM_013289:exon4:c.C551G:p.P184R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00239617	0.0011	0	9.171e-05	0	0	0	0	0.0084	0.0008991	139	154602	rs559245017	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0	2.699e-06	0.0004	0.0055	0.0002	0.0002	0.0001	0.0002	0.0059	0.0001	0.0001	0.0042	0.0036	0	0	0	0	0	0	0	0	0	0.0059	0.063	0.39097	T	0.051	0.47828	T	0.949	0.53761	P	0.586	0.50343	P	0.438239	0.12660	U	0.569745	1	0.08975	N	2.835	0.82492	M	4.02	0.03178	T	-4.39	0.90976	D	0.168	0.19190	-1.1011	0.03961	T	0.036	0.15683	T	10	0.0054792166	0.00121	T	.	.	.	0.047	0.12962	0.525	0.62967	0.200317383148	0.19677	0.024310103535319247	0.02382	0.682336050407	0.60102	.	.	.	0.012666	0.11092	T	-0.584234	0.00182	T	-0.606438	0.12277	T	0.143590039655907	0.16580	T	.	.	.	0.16682261	0.37041	0.24563695	0.50056	0.16682261	0.37041	0.24563695	0.50055	-8.545	0.65424	D	.	.	0.113	0.27702	B	.;.;.	.;.;.	2.149258	0.27375	17.44	0.98578173323310514	0.43206	0.02483	0.06954	N	AEFDGBI	0.024702	0.01573	N	-0.449159192270265	0.23769	1.278734	-0.701682103307201	0.16918	0.8972611	2.01730630816238E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	0.920000	0.28325	.	.	-0.657000	0.04367	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	6.339	0.20521	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001086	0.000000	0.001389	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5594.33	430	chr19	54819908	.	C	G	5594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.845;DP=3666;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-0.932;QD=13.01;ReadPosRankSum=-0.382;SOR=0.765	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	18	0	1	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3464.37	500	chr19	54830166	.	G	C	3464.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.189;DP=4368;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.27;MQRankSum=-17.81;QD=2.01;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3568.37	500	chr19	54830177	.	C	T	3568.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.692;DP=4402;ExcessHet=1.3;FS=0.852;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.17;QD=2.02;ReadPosRankSum=1.52;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3559.37	500	chr19	54830178	.	G	C	3559.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.441;DP=4405;ExcessHet=1.3;FS=0.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.06;QD=2.02;ReadPosRankSum=1.69;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4015.37	500	chr19	54830217	.	T	C	4015.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.427;DP=4403;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.23;MQRankSum=-17.99;QD=2.27;ReadPosRankSum=4.03;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4012.37	500	chr19	54830219	.	T	A	4012.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.661;DP=4404;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.26;MQRankSum=-18.05;QD=2.27;ReadPosRankSum=3.57;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3932.37	500	chr19	54830226	.	C	T	3932.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.664;DP=4371;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.38;MQRankSum=-18.39;QD=2.27;ReadPosRankSum=2.58;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3561.33	500	chr19	54830252	.	TC	T	3561.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.511;DP=4224;ExcessHet=1.3;FS=0.843;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.3;MQRankSum=-15.73;QD=2.24;ReadPosRankSum=-1.435;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3423.33	500	chr19	54830255	.	AAAG	A	3423.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.433;DP=4210;ExcessHet=1.3;FS=0.838;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.32;MQRankSum=-15.59;QD=2.18;ReadPosRankSum=-1.73;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	14	0	5	0
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W,KIR2DS4:NM_001281972:exon2:c.T44G:p.L15W	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013975	0.015464	0.017857	0.020958	0.000000	0.026786	0.016234	0.012097	0.05263	451.83	84	chr19	54835088	.	T	G	451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.32;DP=1702;ExcessHet=0.119;FS=11.099;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.11;MQRankSum=-6.553;QD=1.55;ReadPosRankSum=-3.195;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:91,0:91:99:.:.:0,120,1800:.	17	0	2	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15116.4	469	chr19	54847203	.	T	*	15116.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.277;DP=6140;ExcessHet=5.3738;FS=0.531;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=59.5;MQRankSum=-4.302;QD=3.03;ReadPosRankSum=1.56;SOR=0.737	GT:AD:DP:GQ:PL	0/0:380,0:499:99:1946,3087,16220	17	0	2	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,37:344:99:0|1:54855608_TCTC_T:630,0,12780:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,37:348:99:0|1:54855608_TCTC_T:618,0,12864:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	13	0	6	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2293.43	58	chr19	54859084	.	C	T	2293.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.757;DP=2389;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=43.1;MQRankSum=-6.226;QD=1.28;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1800	15	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2124.39	58	chr19	54859096	.	TGG	T	2124.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.89;DP=2420;ExcessHet=0.7564;FS=0.938;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.24;MQRankSum=-5.586;QD=1.17;ReadPosRankSum=0.893;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1800:.	15	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2020.39	58	chr19	54859099	.	C	CAT	2020.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.825;DP=2401;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.16;MQRankSum=-5.525;QD=1.12;ReadPosRankSum=1.1;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1800:.	15	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2183.43	58	chr19	54859126	.	T	A	2183.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.938;DP=2289;ExcessHet=0.7564;FS=0.941;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=41.24;MQRankSum=-4.282;QD=1.3;ReadPosRankSum=4.53;SOR=0.558	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1800	15	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,32:213:99:0|1:54865794_T_C:799,0,7504:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,33:221:99:0|1:54865794_T_C:820,0,7795:54865794	10	0	9	0
chr19	54865832	54865832	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T977C:p.I326T,KIR3DL2:NM_006737:exon7:c.T1028C:p.I343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000564184354363	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754444084	8.895e-06	8.893e-06	9.531e-06	8.252e-06	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	2.987e-05	4.472e-05	0	0	0	0	8.096e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.065	0.36310	T	0.303	0.20164	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	6.96	0.00492	T	-2.86	0.60188	D	0.222	0.24883	-0.9378	0.42963	T	0.002	0.00556	T	9	0.10151869	0.18553	T	5.64E-4	0.00221	T	0.030	0.07022	0.49	0.57573	0.0297737177859	0.01360	0.07885169017276672	0.07820	0.00211029390725	0.00180	0.485473334789	0.36812	T	0.065017	0.32582	T	-0.361573	0.04042	T	-0.660297	0.08246	T	0.0401075403605462	0.03709	T	.	.	.	0.06471756	0.13759	0.09754157	0.23220	0.06471756	0.13758	0.09754157	0.23220	-6.872	0.53092	T	.	.	0.046	0.00452	B	.;.	.;.	0.356836	0.07298	3.905	0.41793791219186988	0.03039	0.00302	0.01607	N	AEFBI	0.028124	0.02420	N	-1.30769808004854	0.03587	0.1604678	-1.46558098917267	0.02632	0.1213971	1.71969445681765E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.331	0.12050	-0.080000	0.11303	.	.	-0.465000	0.05106	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.3191:0.0:0.6809	2.978	0.05582	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.33	287	chr19	54865832	.	T	C	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=2654;ExcessHet=0;FS=3.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.07;MQRankSum=-7.914;QD=1.07;ReadPosRankSum=0.841;SOR=0.766	GT:AD:DP:GQ:PL	0/0:216,0:216:99:0,120,1800	18	0	1	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,39:227:99:0|1:54865794_T_C:1072,0,7777:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,39:227:99:0|1:54865794_T_C:1072,0,7777:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,39:226:99:0|1:54865794_T_C:1075,0,7735:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,36:221:99:0|1:54865794_T_C:955,0,7660:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,38:216:99:0|1:54865794_T_C:1060,0,7360:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,36:215:99:0|1:54865794_T_C:973,0,7347:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,33:210:99:0|1:54865794_T_C:853,0,7252:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:266,18:284:45:0|1:54866420_C_G:0,45,11160:54866420	12	0	7	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1677.93	40	chr19	54866533	.	A	T	1677.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.178;DP=3750;ExcessHet=0.7564;FS=36.09;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.13;MQRankSum=-22.23;QD=0.82;ReadPosRankSum=0.265;SOR=2.956	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	14	0	4	1
chr19	54889752	54889752	C	A	exonic	FCAR	.	nonsynonymous SNV	FCAR:NM_133273:exon3:c.C429A:p.S143R,FCAR:NM_133277:exon3:c.C426A:p.S142R,FCAR:NM_133271:exon4:c.C465A:p.S155R,FCAR:NM_133272:exon4:c.C717A:p.S239R,FCAR:NM_133278:exon4:c.C651A:p.S217R,FCAR:NM_002000:exon5:c.C753A:p.S251R,FCAR:NM_133269:exon5:c.C687A:p.S229R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00277521294624	.	.	7.428e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs781322512	2.326e-05	2.326e-05	9.53e-06	3.713e-05	0.0004	1.674e-05	1.477e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0004	1.315e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.014	0.76473	D	0.249	0.67487	B	0.126	0.65474	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	3.84	0.03675	T	-3.09	0.63438	D	0.475	0.54059	-1.0156	0.25143	T	0.023	0.09696	T	9	0.09304035	0.16433	T	0.002775	0.05752	T	0.051	0.14325	0.446	0.50466	0.171388866994	0.16791	0.127129122424579	0.12638	0.351601627077	0.36998	0.322462558746	0.13793	T	0.092965	0.39114	T	-0.421135	0.01682	T	-0.526551	0.19633	T	0.344988793134689	0.26821	T	.	.	.	0.141	0.32602	0.16973813	0.39030	0.141	0.32602	0.16973813	0.39029	-7.598	0.64891	D	.	.	0.284	0.51695	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.505729	0.08746	5.522	0.98934000304702829	0.48807	0.05609	0.11515	N	AEFDBI	0.073256	0.14646	N	-0.498118066140879	0.22142	1.180246	-0.672173018050463	0.17657	0.9399046	0.00111854610245781	0.08239	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.9	1.72	0.23498	-0.160000	0.10029	.	.	0.596000	0.33519	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.0:0.7703:0.0:0.2297	6.470	0.21203	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1836.33	33	chr19	54889752	.	C	A	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.133;DP=869;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.681;SOR=0.887	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	18	0	1	0
chr19	54939889	54939889	C	A	exonic	NLRP7	.	nonsynonymous SNV	NLRP7:NM_001127255:exon4:c.G930T:p.Q310H,NLRP7:NM_139176:exon4:c.G930T:p.Q310H,NLRP7:NM_206828:exon4:c.G930T:p.Q310H	Hydatidiform mole, recurrent, 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	882527	Hydatidiform_mole,_recurrent,_1|not_provided	MONDO:MONDO:0009273,MedGen:C3463897,OMIM:231090,Orphanet:254688,Orphanet:99927|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0177949299396	0.0027	0.00119808	0.0016	0.0003	0.0012	0	0.0003	0.0025	0.0011	0.0007	0.00152	235	154602	rs145973556	0.0032	0.0032	0.0033	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0005	0.0013	0	0	0.0003	0.0009	0.0039	0.0024	0.0008	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0017	0.0033	0.0032	0.0004	0	0.0014	0	0	0.0002	0.0034	0.0037	0.0014	0.0012	0.04	0.42487	D	0.009	0.66756	D	0.971	0.57185	D	0.775	0.57058	P	.	.	.	.	1	0.08975	N	0.325	0.10370	N	-1.42	0.80645	T	-0.64	0.25770	N	0.083	0.09349	-0.6951	0.60670	T	0.324	0.69281	T	9	0.0080657005	0.00183	T	0.017795	0.39638	T	0.177	0.44549	.	.	0.688082040798	0.68541	0.22487454794169442	0.22402	0.724652031395	0.62407	0.227592587471	0.01794	T	0.046	0.27413	T	-0.472776	0.00817	T	-0.452725	0.27396	T	0.0118575157356891	0.00184	T	.	.	.	0.13222423	0.30795	0.11062518	0.26677	0.13222423	0.30795	0.11062518	0.26676	-2.41	0.06797	T	.	.	0.168	0.39151	B	.;.;.;.;.	.;.;.;.;.	0.585194	0.09539	6.313	0.99188373032274202	0.54906	0.07550	0.13563	N	AEFDBI	0.076177	0.15318	N	-0.540121754866793	0.20795	1.098878	-0.783873777804265	0.14890	0.780386	0.00325331271741938	0.10018	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	1.77	0.721	0.17373	0.011000	0.13162	.	.	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.8286:0.0:0.1714	6.292	0.20274	912	0.21483	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2252.33	176	chr19	54939889	.	C	A	2252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.93;DP=1994;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.51;MQRankSum=-1.192;QD=16.81;ReadPosRankSum=-0.869;SOR=0.637	GT:AD:DP:GQ:PL	0/0:178,0:178:99:0,120,1800	18	0	1	0
chr19	54983434	54983434	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1670T:p.P557L,NLRP2:NM_001174081:exon6:c.C1736T:p.P579L,NLRP2:NM_001348003:exon6:c.C1727T:p.P576L,NLRP2:NM_017852:exon6:c.C1736T:p.P579L,NLRP2:NM_001174083:exon7:c.C1667T:p.P556L	.	1	1509	12	0	0	12	0.0039604	.	.	.	3213726	NLRP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.047	.	0.0007	0.00299521	0.0021	0.0003	0.0004	0	0	0.0008	0.0011	0.0119	0.0019017	294	154602	rs149897717	0.0014	0.0014	0.0012	0.0017	0.0109	0.0014	0.0014	0.0104	0.0101	0.0002	0.0003	0.0007	2.519e-05	0	0.0028	0.0009	0.0014	0.0109	0.0008	0.0008	0.0007	0.0009	0.0100	0.0007	0.0006	0.0077	0.0069	0.0002	0	0.0004	0.0003	0	0	0.0034	0.0008	0.0009	0.0100	1.0	0.00964	T	0.33	0.18675	T	0.015	0.19245	B	0.002	0.11217	B	0.005687	0.01090	N	3.947260	1	0.08975	N	0.61	0.15665	N	-0.8	0.73845	T	0.66	0.02638	N	0.12	0.11197	-0.9913	0.32270	T	0.209	0.56906	T	10	0.0066336095	0.00150	T	.	.	.	0.047	0.12962	.	.	0.523650220922	0.52011	0.09322517985177575	0.09254	0.0456806916263	0.04958	0.233090355992	0.02204	T	0.021155	0.16527	T	-0.506753	0.00524	T	-0.491297	0.23255	T	0.000592152556546238	0.00005	T	.	.	.	0.019879818	0.00529	0.02972352	0.01343	0.019879818	0.00529	0.02972352	0.01343	-4.284	0.28302	T	.	.	0.095	0.16670	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.368701	0.00383	0.007	0.32901926915320839	0.01931	0.01018	0.03833	N	AEFDGBI	0.058314	0.10932	N	-1.73101622409608	0.00737	0.03184456	-1.84456676417532	0.00627	0.02786181	0.00494558523825066	0.10771	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-3.32	0.04663	-1.623000	0.02143	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.482:0.2189:0.2992	4.392	0.10775	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	3385.33	34	chr19	54983434	.	C	T	3385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.05;DP=2347;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.024;SOR=0.914	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr19	54983686	54983686	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1922T:p.P641L,NLRP2:NM_001174081:exon6:c.C1988T:p.P663L,NLRP2:NM_001348003:exon6:c.C1979T:p.P660L,NLRP2:NM_017852:exon6:c.C1988T:p.P663L,NLRP2:NM_001174083:exon7:c.C1919T:p.P640L	.	0	225	1	0	0	1	0.00221729	.	.	.	3458786	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00574040114842	.	.	1.655e-05	0	0	0	0	3.015e-05	0	0	1.94e-05	3	154602	rs775271805	2.532e-05	2.736e-05	2.587e-05	2.476e-05	6.709e-05	1.868e-05	1.631e-05	2.082e-05	1.782e-05	0	6.709e-05	0	0	0	0	2.878e-05	3.313e-05	0	1.972e-05	1.97e-05	3.855e-05	0	6.551e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.28	0.15984	T	0.321	0.19908	T	0.02	0.20480	B	0.005	0.18140	B	.	.	.	.	0.99303	0.23785	N	0.465	0.13073	N	-0.7	0.73311	T	-0.3	0.13418	N	0.055	0.03175	-1.0021	0.29313	T	0.130	0.43927	T	9	0.06432006	0.08512	T	0.00574	0.14892	T	0.044	0.11924	.	.	0.451118754121	0.44735	0.09723520869024986	0.09654	0.0455527235742	0.04945	0.222013041377	0.01429	T	0.005682	0.05129	T	-0.336149	0.05660	T	-0.564266	0.15978	T	0.0113935889676213	0.00170	T	.	.	.	0.021185448	0.00709	0.027468473	0.00903	0.021185448	0.00709	0.027468473	0.00903	-0.779	0.01557	T	.	.	0.080	0.12985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.086946	0.04916	1.493	0.30861924109655098	0.01710	0.00088	0.00587	N	AEFDBI	0.025337	0.01718	N	-1.35720545270877	0.03051	0.1356795	-1.37412914263076	0.03530	0.1648403	1.21553142573825E-4	0.05386	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.94	0.902	0.18422	-1.047000	0.03632	.	.	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2365:0.0:0.7635	3.339	0.06694	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2363.33	254	chr19	54983686	.	C	T	2363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=1673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.337;SOR=0.665	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr19	55045206	55045206	G	C	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.C864G:p.F288L,RDH13:NM_138412:exon8:c.C651G:p.F217L	.	423	1073	26	0	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	.	0.0068	0.00379393	0.0083	0.0008	0.0042	0	0.0070	0.0106	0.0079	0.0110	0.0079559	1230	154602	rs56125820	0.0093	0.0093	0.0092	0.0093	0.0144	0.0092	0.0091	0.0119	0.0110	0.0015	0.0047	0.0081	5.038e-05	0.0073	0.0144	0.0100	0.0085	0.0116	0.0068	0.0068	0.0067	0.0070	0.0122	0.0065	0.0064	0.0097	0.0090	0.0016	0	0.0069	0.0078	0	0.0090	0.0238	0.0098	0.0066	0.0122	0.011	0.57480	D	0.025	0.64786	D	0.835	0.46254	P	0.19	0.36341	B	0.000009	0.62929	D	0.112974	0.782476	0.34284	D	0.93	0.23535	L	-3.55	0.94834	D	-5.19	0.83625	D	0.444	0.48227	-0.0272	0.81690	T	0.557	0.83836	D	10	0.006888509	0.00156	T	.	.	.	0.587	0.83471	0.699	0.83592	0.736989248879	0.73463	0.7326798601072219	0.73212	0.194085872631	0.21745	0.735047757626	0.72244	T	0.171346	0.51944	T	-0.165664	0.25891	T	-0.000353042	0.70313	D	0.0759697476757848	0.09464	T	.	.	.	0.4629253	0.64853	0.45011628	0.67997	0.4629253	0.64854	0.45011628	0.67998	-8.604	0.71176	D	.	.	0.991	0.93792	P	.;.;.	.;.;.	1.844192	0.23430	16.01	0.98331568901600575	0.40348	0.62815	0.31896	D	AEFDGBCI	0.220312	0.34508	N	-0.711334249114612	0.15702	0.7936669	-0.815680504773558	0.14116	0.7359038	0.413996110449008	0.20236	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.61	-4.24	0.03519	-0.054000	0.11783	.	.	-0.208000	0.08445	0.041000	0.21027	0.000000	0.08366	0.871000	0.41478	0.8181:0.0:0.1819:0.0	11.974	0.52373	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.025253	0.009511	0.011696	0.000000	0.000000	0.015244	0.007576	0.02632	1415.33	34	chr19	55045206	.	G	C	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.284;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	18	0	1	0
chr19	55056679	55056679	C	A	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon3:c.G314T:p.R105L,RDH13:NM_138412:exon4:c.G101T:p.R34L	.	.	.	.	.	.	.	.	.	.	.	2363526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.155883926499	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs144942284	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0002	2.282e-05	2.032e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	0	0	0	2.428e-05	8.279e-05	0	7.886e-05	7.875e-05	6.427e-05	9.413e-05	0.0002	4.497e-05	3.513e-05	4.732e-05	3.049e-05	0.0001	0	0.0001	0	0.0002	0	0.0068	2.941e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.911	0.50336	P	0.488	0.47288	P	0.003361	0.35069	N	0.203527	0.801548	0.34518	D	1.805	0.47535	L	-2.32	0.87830	D	-6.61	0.92086	D	0.711	0.71410	0.244	0.86653	D	0.585	0.85118	D	10	0.6766619	0.71031	D	0.155884	0.83674	D	0.453	0.75279	0.617	0.75116	0.898635335558	0.89762	0.6702900507608593	0.66967	0.321015986197	0.34303	0.362669289112	0.19775	T	0.509608	0.82636	D	-0.0863088	0.38685	T	-0.0770396	0.65121	T	0.440810024738312	0.30459	T	.	.	.	0.550502	0.69984	0.5022767	0.71228	0.550502	0.69985	0.5022767	0.71229	-11.937	0.87498	D	.	.	0.532	0.67969	A	.;.;.;.	.;.;.;.	4.385368	0.67628	25.1	0.99720714895713092	0.82054	0.89584	0.50142	D	AEFDBCI	0.515785	0.54260	D	0.232941281649984	0.52800	3.452113	0.147884273798393	0.47030	2.939469	0.556106249080649	0.21375	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.42	2.26	0.27418	4.748000	0.61842	.	.	0.583000	0.30283	1.000000	0.71638	0.994000	0.32194	0.227000	0.22653	0.0:0.6795:0.0:0.3205	5.754	0.17432	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1964.33	33	chr19	55056679	.	C	A	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=1066;ExcessHet=0;FS=3.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.224;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr19	55134065	55134065	C	G	splicing	TNNT1	NM_001126133:exon11:c.669+1G>C;NM_003283:exon12:c.750+1G>C;NM_001126132:exon12:c.702+1G>C;NM_001291774:exon12:c.669+1G>C	.	.	Nemaline myopathy 5, Amish type, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs111998831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.362795	0.89928	31	0.99337376289983803	0.60012	0.99350	0.94868	D	AEFDGBI	.	.	.	0.941013529495103	0.93619	12.16069	0.726786160149203	0.84412	8.284809	0.999999999978835	0.74766	0.258101	0.04556	0	0.066906	0.01782	0	0.271638	0.05368	0	0.062806	0.01542	0	0.96798	0.70468	4.35	4.35	0.51454	7.818000	0.84740	7.416000	0.58680	0.552000	0.28158	1.000000	0.71638	1.000000	0.68203	0.457000	0.28051	0.0:1.0:0.0:0.0	14.748	0.69123	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.33	38	chr19	55134065	.	C	G	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.804;DP=722;ExcessHet=0;FS=53.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=0.109;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1367:.	18	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1608.83	34	chr19	55165795	.	A	C	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.103;DP=709;ExcessHet=0.119;FS=0.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.073;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	17	0	2	0
chr19	55202293	55202293	C	G	exonic	PTPRH	.	nonsynonymous SNV	PTPRH:NM_001161440:exon4:c.G382C:p.E128Q,PTPRH:NM_002842:exon6:c.G916C:p.E306Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2386951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00666893478217	0.0003	0.000199681	0.0003	0.0002	0.0006	0	0	0.0004	0	0	0.0002975	46	154602	rs140788530	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0007	5.974e-05	0.0006	0.0051	0	0	0.0017	0.0002	0.0011	0	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	9.62e-05	0	0.0008	0.0069	0	0	0.0068	0.0002	0.0014	0	0.204	0.20078	T	0.494	0.17064	T	0.599	0.39298	P	0.472	0.46817	P	.	.	.	.	1	0.08975	N	2.36	0.67893	M	0.36	0.57880	T	-1.26	0.33998	N	0.034	0.01068	-0.9792	0.35186	T	0.150	0.47717	T	9	0.005674422	0.00126	T	0.006669	0.17614	T	0.090	0.26093	.	.	0.115124310173	0.11017	0.13223295698840476	0.13148	0.307902338181	0.33085	0.354240685701	0.18544	T	0.003832	0.03242	T	-0.533459	0.00366	T	-0.663504	0.08032	T	0.0408886828360323	0.03853	T	0.39686	0.13745	T	0.049129955	0.08673	0.09028834	0.21163	0.049129955	0.08673	0.09028834	0.21163	-8.071	0.61553	D	.	.	0.136	0.29697	B	.;.	.;.	-0.071030	0.03818	0.813	0.96212672084771622	0.29060	0.06160	0.12142	N	AEFDGBHCI	0.085337	0.17298	N	-0.62072511544085	0.18322	0.9503258	-0.801890464118261	0.14450	0.7550523	0.968432650099959	0.29052	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	3.89	0.33	0.15169	-0.662000	0.05404	-5.295000	0.01772	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4392:0.4431:0.1177	6.019	0.18847	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002643	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3738.33	40	chr19	55202293	.	C	G	3738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.21;DP=1106;ExcessHet=0;FS=0.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0.94;QD=13.64;ReadPosRankSum=1.84;SOR=0.756	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr19	55228701	55228701	C	A	exonic	TMEM86B	.	nonsynonymous SNV	TMEM86B:NM_173804:exon1:c.G41T:p.C14F	.	328	1175	17	2	0	21	0.00885702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00639173730554	0.0037	0.00159744	0.0035	0.0018	0.0014	0	0.0055	0.0047	0.0050	0.0021	0.00326	504	154602	rs149958597	0.0050	0.0050	0.0050	0.0049	0.0057	0.0049	0.0048	0.0056	0.0056	0.0008	0.0023	0.0005	0	0.0041	0.0033	0.0057	0.0039	0.0030	0.0035	0.0035	0.0036	0.0035	0.0056	0.0033	0.0032	0.0051	0.0050	0.0012	0	0.0031	0	0	0.0041	0	0.0056	0.0024	0.0012	0.758	0.03502	T	0.802	0.04041	T	0.0	0.02946	B	0.0	0.01387	B	0.088901	0.02434	N	1.970240	1	0.08975	N	-0.28	0.03718	N	2.06	0.20523	T	0.32	0.03955	N	0.079	0.05414	-1.0348	0.18920	T	0.013	0.04985	T	10	0.0042171776	0.00084	T	0.006392	0.16812	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.16901857114886204	0.16821	0.00619719198121	0.00543	0.278465747833	0.07279	T	0.009489	0.08636	T	-0.675384	0.00051	T	-0.739612	0.03907	T	3.0249240399248e-05	0.00000	T	0.272073	0.04599	T	0.030362817	0.02687	0.06251903	0.12243	0.030362817	0.02687	0.06251903	0.12242	-3.731	0.19776	T	.	.	0.065	0.02012	B	.	.	-0.527777	0.01779	0.137	0.7645789105506291	0.11476	0.02220	0.06460	N	AEFDGBHCI	0.032668	0.03732	N	-1.36970078342611	0.02926	0.1299374	-1.36720479510511	0.03607	0.1686091	0.999999999971008	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.39	-2.03	0.06959	-0.563000	0.06034	-0.031000	0.12795	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3614:0.1536:0.3614:0.1236	2.220	0.03727	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006061	0.010204	0.001362	0.008772	0.000000	0.008621	0.015337	0.003788	0.02632	548.33	47	chr19	55228701	.	C	A	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=731;ExcessHet=0;FS=2.339;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.366;SOR=0.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	18	0	1	0
chr19	55313023	55313023	C	T	exonic	TMEM150B	.	nonsynonymous SNV	TMEM150B:NM_001085488:exon8:c.G538A:p.V180I,TMEM150B:NM_001282011:exon8:c.G538A:p.V180I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0080822975588	.	.	9.538e-06	0	0	0	0	1.706e-05	0	0	6.5e-06	1	154602	rs756208873	1.711e-05	1.71e-05	2.043e-05	1.376e-05	5.978e-05	1.175e-05	9.93e-06	1.378e-05	1.151e-05	5.978e-05	0	0	0	0	0	2.069e-05	0	0	1.971e-05	2.626e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.466	0.08584	T	0.163	0.31125	T	0.133	0.27236	B	0.016	0.17743	B	0.005420	0.32823	N	0.285709	1	0.08975	N	0.55	0.14455	N	1.0	0.41392	T	-0.67	0.19297	N	0.062	0.03392	-1.0392	0.17556	T	0.055	0.23338	T	10	0.1254301	0.23835	T	0.008082	0.21418	T	0.073	0.21317	.	.	0.0138822411134	0.00435	0.18366527815162312	0.18285	0.081474705292	0.09168	0.409936249256	0.26448	T	0.197594	0.55431	T	-0.308469	0.07884	T	-0.665385	0.07908	T	0.0476846461483544	0.05087	T	0.509849	0.16238	T	0.034435716	0.03864	0.030522548	0.01519	0.034435716	0.03864	0.030522548	0.01519	-5.736	0.44013	T	.	.	0.086	0.10835	B	.;.	.;.	0.863074	0.12354	8.894	0.87091960990202832	0.16982	0.09453	0.15205	N	AEFGBCI	0.112479	0.22231	N	-0.891673105247672	0.11039	0.5306478	-0.875079348744234	0.12686	0.6540027	0.906242844687713	0.26226	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.55	3.51	0.39297	1.230000	0.32214	-0.536000	0.08609	-0.252000	0.07121	0.007000	0.17678	0.000000	0.08366	0.002000	0.04165	0.0:0.8933:0.0:0.1067	9.064	0.35614	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr19	55313023	.	C	T	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=835;ExcessHet=0;FS=2.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.578;SOR=0.963	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1108,0,1739	18	0	1	0
chr19	55342225	55342225	C	T	exonic	KMT5C	.	nonsynonymous SNV	KMT5C:NM_032701:exon3:c.C121T:p.P41S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0271005122038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767623677	1.235e-05	1.3e-05	8.19e-06	1.655e-05	2.991e-05	7.72e-06	6.37e-06	8.11e-06	6.43e-06	2.991e-05	0	0	0	0	0	1.35e-05	0	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.16	0.31427	T	0.054	0.22658	B	0.01	0.14941	B	0.161418	0.17652	N	0.536026	0.999813	0.20249	N	.	.	.	.	.	.	-0.37	0.13226	N	0.329	0.36989	-1.0278	0.21168	T	0.042	0.18160	T	9	0.041122586	0.02739	T	0.027101	0.49947	D	0.035	0.08770	.	.	0.043077524339	0.03247	0.6301587224644379	0.62949	0.538746203884	0.51126	0.501339316368	0.39015	T	0.06715	0.33127	T	-0.287847	0.09854	T	-0.568383	0.15597	T	0.0476895152424081	0.05088	T	0.657134	0.26688	T	0.12756307	0.29848	0.059175238	0.11061	0.12756307	0.29848	0.059175238	0.11061	-5.973	0.46053	T	.	.	0.086	0.10931	B	.	.	2.213835	0.28248	17.73	0.99236151259477334	0.56373	0.07744	0.13744	N	AEFDGBI	0.057873	0.10816	N	-0.735347624169221	0.15033	0.7541297	-0.649563560770229	0.18228	0.9728118	0.999998287404295	0.74766	0.645754	0.44609	0	0.708844	0.79440	0	0.696144	0.63334	0	0.604944	0.38103	0	.	.	4.41	0.497	0.16109	0.393000	0.20543	2.891000	0.35390	0.596000	0.33519	0.002000	0.15269	1.000000	0.68203	0.997000	0.79791	0.4353:0.326:0.2388:0.0	6.781	0.22831	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	660.33	33	chr19	55342225	.	C	T	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=689;ExcessHet=0;FS=7.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.137;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,72:72:99:.:.:3197,224,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,72:72:99:.:.:3197,224,0:.	0	15	4	0
chr19	55359385	55359385	C	T	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1483A:p.V495I	.	433	1087	2	0	0	2	0.000919118	.	.	.	3251325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0170914622109	.	.	0.0004	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs770994682	0.0001	0.0001	7.764e-05	0.0002	0.0016	0.0001	9.758e-05	0.0014	0.0013	0.0001	0.0002	0	0.0002	0	0	1.298e-05	0.0001	0.0016	0.0001	0.0002	0.0002	0.0001	0.0013	9.782e-05	8.291e-05	0.0005	0.0004	0.0002	0	0.0003	0	0.0006	0	0	0	0.0005	0.0013	0.387	0.10945	T	0.555	0.09267	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.52	0.14160	T	-0.29	0.11728	N	0.018	0.00252	-0.9310	0.43992	T	0.018	0.07282	T	9	0.009979278	0.00224	T	0.017091	0.38644	T	0.013	0.01715	0.169	0.07419	0.0138822411134	0.00435	0.018675326737760643	0.01821	.	.	0.306275576353	0.11344	T	6.07E-4	0.00251	T	-0.749232	0.00018	T	-0.862226	0.00819	T	0.00405261580524738	0.00043	T	0.293771	0.05407	T	0.022191951	0.00866	0.030548535	0.01524	0.022191951	0.00866	0.030548535	0.01523	-4.485	0.30692	T	.	.	0.086	0.10691	B	.	.	-1.620641	0.00230	0.004	0.6245423426186717	0.06967	0.00629	0.02767	N	AEFGBI	0.047621	0.08039	N	-1.87876827789499	0.00380	0.01631097	-1.99475568695328	0.00314	0.01387033	0.00248618789862218	0.09470	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.72	-5.44	0.02419	-2.968000	0.00734	-8.241000	0.01003	-3.058000	0.00131	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1843:0.2504:0.5653	6.816	0.23013	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	931.33	45	chr19	55359385	.	C	T	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.013;DP=1099;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.232;SOR=0.715	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1724	18	0	1	0
chr19	55359722	55359722	C	A	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1146T:p.R382S	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	.	0.0068	0.00778754	0.0025	0.0224	0.0025	0	0	0	0	0.0001	0.0007115	110	154602	rs73607052	0.0006	0.0006	0.0007	0.0005	0.0233	0.0006	0.0006	0.0219	0.0214	0.0233	0.0012	0	0	0	0.0005	1.112e-05	0.0013	7.573e-05	0.0059	0.0059	0.0059	0.0059	0.0209	0.0056	0.0054	0.0197	0.0193	0.0209	0	0.0013	0	0	0	0	2.941e-05	0.0033	0.0002	0.135	0.26192	T	0.667	0.06365	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.57	0.13552	T	-0.55	0.16799	N	0.043	0.01577	-1.0311	0.20099	T	0.002	0.00526	T	9	0.0033717752	0.00059	T	.	.	.	0.001	0.00016	0.214	0.13354	0.0138822411134	0.00435	0.05037560083367639	0.04980	.	.	0.259576261044	0.04840	T	0.001815	0.01233	T	-0.765382	0.00014	T	-0.855275	0.00896	T	0.00484550234333763	0.00052	T	0.292471	0.05369	T	0.07667782	0.17358	0.04626762	0.06409	0.07667782	0.17358	0.04626762	0.06409	-3.025	0.10453	T	.	.	0.216	0.44514	B	.	.	-0.938161	0.00864	0.030	0.87335932204274713	0.17154	0.01818	0.05656	N	AEFDGBC	0.049168	0.08468	N	-2.0515162011601	0.00164	0.007005013	-2.1641579784188	0.00135	0.005916057	0.999979297838524	0.50053	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.43	-6.86	0.01516	-2.894000	0.00775	-6.222000	0.01460	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1144:0.2935:0.3188:0.2732	2.197	0.03676	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001085	0.000000	0.009709	0.004202	0.000000	0.000000	0.000000	0.000000	0.02632	1618.33	43	chr19	55359722	.	C	A	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=864;ExcessHet=0;FS=7.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.115;SOR=0.96	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr19	55378033	55378033	A	G	exonic	TMEM190	.	nonsynonymous SNV	TMEM190:NM_139172:exon5:c.A364G:p.M122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00344449210613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319059304	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0009	1e-06	7.3e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.002	0.09854	B	0.002	0.06944	B	0.736779	0.09809	N	0.817361	1	0.08975	N	0	0.06538	N	.	.	.	-1.17	0.29933	N	0.096	0.07673	-1.0296	0.20583	T	0.037	0.16073	T	9	0.034504443	0.01661	T	0.003444	0.07755	T	0.023	0.04649	0.161	0.06507	0.0920862733494	0.08535	0.14879602737604533	0.14801	0.441629838228	0.44142	0.276694118977	0.07036	T	0.047748	0.27815	T	-0.408721	0.02027	T	-0.655748	0.08556	T	0.0235258825731104	0.01086	T	0.277372	0.04781	T	0.13809955	0.31952	0.103022754	0.24708	0.13809955	0.31952	0.103022754	0.24707	-2.105	0.03605	T	.	.	0.062	0.01252	B	.	.	-0.148480	0.03363	0.598	0.37640805533347094	0.02492	0.01759	0.05532	N	AEFDGBCI	0.024227	0.01466	N	-1.82218676276125	0.00493	0.02122421	-1.84828735829952	0.00617	0.02739902	0.999988788207661	0.51787	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.02	-1.72	0.07671	-1.597000	0.02192	-2.658000	0.03498	-4.666000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.4214:0.0:0.373	2.774	0.05015	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1106.33	33	chr19	55378033	.	A	G	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr19	55401542	55401542	G	A	exonic	UBE2S	.	nonsynonymous SNV	UBE2S:NM_014501:exon4:c.C563T:p.P188L	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0035	0.0005	0.0009	0.0001	0.0113	0.0043	0.0025	0.0024	0.0006986	108	154602	rs201696148	0.0048	0.0052	0.0050	0.0046	0.0051	0.0047	0.0047	0.0050	0.0050	0.0007	0.0012	7.664e-05	0.0001	0.0154	0.0040	0.0051	0.0035	0.0026	0.0046	0.0046	0.0041	0.0052	0.0056	0.0043	0.0042	0.0051	0.0049	0.0009	0.0121	0.0017	0.0003	0.0002	0.0211	0.0102	0.0056	0.0047	0.0027	0.419	0.09866	T	0.056	0.46632	T	0.004	0.12183	B	0.001	0.04355	B	0.223154	0.16091	N	0.647030	1	0.18198	N	0.895	0.22405	L	0.42	0.56937	T	-0.17	0.09627	N	0.095	0.07535	-1.0207	0.23486	T	0.066	0.27191	T	10	0.0032718182	0.00056	T	.	.	.	0.022	0.04323	.	.	0.335408717102	0.33150	0.19507620518654065	0.19425	1.14787012737	0.79117	0.729847192764	0.71483	T	0.039526	0.25219	T	-0.581538	0.00189	T	-0.59872	0.12919	T	0.000760786096918909	0.00007	T	0.534647	0.17878	T	0.021973992	0.00830	0.026001774	0.00668	0.021973992	0.00830	0.026001774	0.00668	-4.952	0.36314	T	.	.	0.070	0.03515	B	.	.	0.719550	0.10887	7.559	0.71557250479792134	0.09669	0.25199	0.22627	N	AEFBCI	0.096203	0.19425	N	-1.3761434326449	0.02862	0.127034	-1.4188001409556	0.03064	0.1422115	0.884830348536742	0.25703	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.5	-3.22	0.04808	0.186000	0.16787	-0.096000	0.11999	-0.254000	0.07082	0.054000	0.21560	0.000000	0.08366	0.065000	0.16320	0.587:0.0:0.413:0.0	9.115	0.35914	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003261	0.000000	0.004076	0.004274	0.000000	0.000000	0.000000	0.003846	0.02632	956.33	38	chr19	55401542	.	G	A	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=720;ExcessHet=0;FS=4.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.76;MQRankSum=-5.295;QD=14.49;ReadPosRankSum=1.94;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	18	0	1	0
chr19	55401564	55401564	C	T	exonic	UBE2S	.	nonsynonymous SNV	UBE2S:NM_014501:exon4:c.G541A:p.D181N	.	.	.	.	.	.	.	.	.	.	.	2674100	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0860250556264	8.7e-05	0.000199681	9.295e-05	0	0	0	0	3.461e-05	0	0.0005	7.76e-05	12	154602	rs377751817	5.624e-05	5.746e-05	4.368e-05	6.893e-05	0.0005	4.622e-05	4.247e-05	0.0003	0.0003	5.999e-05	8.973e-05	0	2.52e-05	0	0.0005	2.879e-05	8.311e-05	0.0004	6.568e-05	6.562e-05	7.71e-05	5.373e-05	0.0004	3.515e-05	2.615e-05	7.293e-05	3.03e-05	9.622e-05	0	0	0	0	0	0.0034	2.941e-05	0.0005	0.0004	0.19	0.21144	T	0.354	0.17268	T	0.089	0.25085	B	0.004	0.10090	B	0.000699	0.42383	D	0.148973	0.615438	0.30825	N	0.895	0.22405	L	0.35	0.58029	T	-0.71	0.20145	N	0.149	0.15187	-0.9637	0.38468	T	0.081	0.32060	T	10	0.038034618	0.02195	T	0.086025	0.74653	D	0.094	0.27141	.	.	0.590116201424	0.58688	0.3758367452677837	0.37497	1.16890855372	0.79700	0.808097183704	0.83200	D	0.030468	0.21593	T	-0.484258	0.00699	T	-0.590648	0.13610	T	0.0167390368878841	0.00430	T	0.628837	0.24395	T	0.09704739	0.22870	0.049953185	0.07739	0.09704739	0.22870	0.049953185	0.07738	-4.885	0.35566	T	.	.	0.096	0.15206	B	.	.	2.249156	0.28726	17.89	0.98869539086862179	0.47615	0.52353	0.29111	D	AEFBCI	0.088958	0.18033	N	-0.498730496927148	0.22123	1.179039	-0.426143758840795	0.24234	1.325894	0.961015644605165	0.28526	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.03	2.91	0.32903	1.043000	0.29926	4.589000	0.43950	0.524000	0.24156	0.107000	0.22934	1.000000	0.68203	0.009000	0.08673	0.1882:0.8118:0.0:0.0	10.881	0.46145	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	953.33	38	chr19	55401564	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=731;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.41;MQRankSum=-5.938;QD=14.02;ReadPosRankSum=3.18;SOR=0.467	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1062	18	0	1	0
chr19	55483496	55483496	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G2303A:p.G768D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0191081321818	.	.	2.579e-05	0	0	0	0	4.091e-05	0	0	1.29e-05	2	154602	rs753366629	1.655e-05	1.847e-05	1.984e-05	1.316e-05	8.298e-05	1.102e-05	9.21e-06	2.199e-05	1.109e-05	0	8.298e-05	0	0	0	0	1.485e-05	3.491e-05	2.623e-05	6.57e-06	6.567e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.032402	0.25034	U	0.180691	1	0.08975	N	0.895	0.22405	L	2.94	0.09728	T	.	.	.	0.405	0.44570	-1.0127	0.26070	T	0.018	0.07329	T	10	0.110916644	0.20749	T	0.019108	0.41382	T	0.083	0.24192	.	.	0.043077524339	0.03247	0.22889173771808946	0.22804	.	.	0.808003842831	0.83186	D	0.011605	0.10331	T	-0.365156	0.03847	T	-0.571915	0.15275	T	0.0930493995547295	0.11575	T	0.524448	0.17180	T	0.07097352	0.15677	0.103355736	0.24797	0.07097352	0.15676	0.103355736	0.24796	-8.254	0.62788	D	.	.	0.274	0.50736	B	.;.	.;.	1.547268	0.19836	14.46	0.96636554313597056	0.30538	0.08832	0.14702	N	AEFDBCI	0.058417	0.10958	N	-0.491991013730774	0.22343	1.192358	-0.601200907329542	0.19462	1.044291	0.99999999988339	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.36	3.36	0.37579	1.517000	0.35474	2.078000	0.30479	0.588000	0.31329	0.074000	0.22182	0.249000	0.23905	0.003000	0.05239	0.0:0.0:1.0:0.0	10.412	0.43486	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1027.33	44	chr19	55483496	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.036;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.784;SOR=0.706	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr19	55483720	55483752	GTCCAGCTCCAGCCAGCACAGGAAGTAACCACG	-	exonic	ZNF628	.	nonframeshift deletion	ZNF628:NM_033113:exon3:c.2527_2559del:p.A859_P869del	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0003	0	0.0004	3.84e-05	1	26028	rs777519969	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0002	3.828e-05	0	0.0002	0.0010	0.0001	0.0002	0.0004	0.0002	0.0002	0.0001	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	4.833e-05	0	6.562e-05	0	0	0	0.0171	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1118.29	44	chr19	55483719	.	AGTCCAGCTCCAGCCAGCACAGGAAGTAACCACG	A	1118.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.261;DP=936;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.291;SOR=0.674	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	18	0	1	0
chr19	55484240	55484240	C	G	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.C3047G:p.P1016R	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0230543345231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	.	.	.	.	.	.	0.034708	0.24735	U	0.266230	1	0.08975	N	1.67	0.42885	L	3.0	0.09167	T	-1.5	0.36586	N	0.302	0.34120	-0.9985	0.30339	T	0.016	0.06329	T	10	0.10101971	0.18432	T	0.023054	0.45999	T	0.050	0.13987	.	.	0.043077524339	0.03247	0.15425902428970864	0.15346	.	.	0.780514836311	0.79005	T	0.005158	0.04603	T	-0.251259	0.13944	T	-0.598692	0.12921	T	0.271559327840805	0.23814	T	0.507449	0.16094	T	0.043176055	0.06682	0.07789542	0.17397	0.043176055	0.06682	0.07789542	0.17396	-5.629	0.43057	T	.	.	0.148	0.34580	B	.;.	.;.	2.504472	0.32334	19.01	0.89995582181201272	0.19286	0.08623	0.14526	N	AEFDGBHCI	0.040802	0.06120	N	-1.04252303017362	0.07735	0.3603283	-1.05056904577653	0.08695	0.4287994	0.999994256390085	0.74766	0.65757	0.49021	0	0.706955	0.78570	0	0.459711	0.06710	0	0.322989	0.05693	1	.	.	3.48	2.44	0.28875	0.991000	0.29255	4.525000	0.43702	0.458000	0.21545	0.001000	0.13787	0.415000	0.24778	0.013000	0.09966	0.0:0.8659:0.0:0.1341	6.754	0.22689	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	536.33	44	chr19	55484240	.	C	G	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=776;ExcessHet=0;FS=3.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.35;SOR=0.976	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1183	18	0	1	0
chr19	55486564	55486564	G	C	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G229C:p.V77L	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0164794337621	.	.	3.539e-05	0	0	0	0	3.272e-05	0.0026	0	1.29e-05	2	154602	rs561771561	5.583e-06	6.156e-06	6.942e-06	4.21e-06	0.0002	2.4e-06	1.74e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.521e-06	3.357e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002077	0.37317	N	0.176912	0.90865	0.27554	N	-1.735	0.00332	N	.	.	.	0.99	0.01428	N	0.038	0.01203	-0.9945	0.31432	T	0.017	0.06855	T	9	0.019770592	0.00446	T	0.016479	0.37757	T	0.043	0.11576	0.246	0.18139	0.134241683229	0.13084	0.47360274471038727	0.47279	0.272789235297	0.29784	0.803345799446	0.82474	D	0.003902	0.03313	T	-0.33156	0.05994	T	-0.714039	0.05089	T	0.0235461437271733	0.01088	T	0.528747	0.17479	T	0.03382459	0.03677	0.027829427	0.00966	0.03382459	0.03677	0.027829427	0.00966	-2.574	0.06308	T	.	.	0.092	0.13409	B	.	.	-0.657482	0.01423	0.084	0.69957871779934611	0.09139	0.02703	0.07351	N	AEFDBHCI	0.056389	0.10421	N	-1.12802719416376	0.06149	0.2822918	-1.02850573763821	0.09161	0.4542422	0.999994903284081	0.74766	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.372554	0.06265	0	.	.	3.41	-0.405	0.11775	-0.347000	0.07799	0.017000	0.13531	-0.165000	0.11486	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.3278:0.3474:0.3248:0.0	3.592	0.07541	970	0.06235	GNAT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1773.33	34	chr19	55486564	.	G	C	1773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.542;DP=710;ExcessHet=0;FS=3.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=1.48;SOR=0.907	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	18	0	1	0
chr19	55498128	55498128	-	TCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC	exonic	SSC5D	.	frameshift insertion	SSC5D:NM_001144950:exon9:c.1636_1637insTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC:p.D546Vfs*36,SSC5D:NM_001195267:exon9:c.1636_1637insTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC:p.D546Vfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.29	37	chr19	55498128	.	G	GTCTCTACAAAAATTAAAAATGAGCCGGGTGTGGTGGCGCACATCTGTAGTCCCACCTTTTC	69.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=876;ExcessHet=0;FS=35.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-1.599;SOR=5.178	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	18	0	1	0
chr19	55541283	55541283	C	A	exonic	SBK3	.	nonsynonymous SNV	SBK3:NM_001199824:exon4:c.G643T:p.D215Y	.	376	1134	12	0	0	12	0.00526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.000798722	0.0028	0	0	0	0	0	0	0.0045	0.0002781	43	154602	rs568564168	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0031	0.0030	6.332e-05	0.0001	0	0	0	0.0016	0.0001	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0002	0	0	0	0	0.0003	0	0.0048	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.26717	-0.7691	0.56907	T	0.150	0.47804	T	4	0.0061459243	0.00138	T	.	.	.	.	.	.	.	0.290222751274	0.28632	0.5381085148151405	0.53735	.	.	0.759571135044	0.75866	T	0.040333	0.25493	T	-0.38752	0.02791	T	-0.33026	0.41441	T	0.0572062612220503	0.06721	T	0.692631	0.30204	T	0.0593818	0.12062	0.116223335	0.28056	0.0593818	0.12062	0.116223335	0.28056	-9.383	0.70129	D	.	.	0.139	0.30423	B	.	.	1.814290	0.23053	15.87	0.97823571278263011	0.36213	0.27566	0.23313	N	AEFDBI	0.303299	0.41131	N	-0.750872743678964	0.14609	0.7291885	-0.90223407846484	0.12042	0.6171266	1.35951535934299E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.01	0.548	0.16397	0.143000	0.15936	0.053000	0.14027	-0.233000	0.07663	0.002000	0.15269	0.000000	0.08366	0.017000	0.10941	0.0:0.6864:0.0:0.3136	7.532	0.26855	946	0.12043	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004320	0.000000	0.004505	0.000000	0.000000	0.000000	0.010000	0.009091	0.02632	730.33	63	chr19	55541283	.	C	A	730.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.943;DP=736;ExcessHet=0;FS=2.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.72;SOR=0.458	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	18	0	1	0
chr19	55577985	55577985	G	C	exonic	ZNF579	.	nonsynonymous SNV	ZNF579:NM_152600:exon2:c.C1655G:p.A552G	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0344401508855	.	.	4.175e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs757017578	1.589e-05	1.915e-05	8.234e-06	2.366e-05	0.0002	1.058e-05	8.84e-06	0.0001	0.0001	0	0	0	0	0	0.0002	9.048e-07	5.022e-05	0.0002	6.57e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.064	0.23455	B	0.03	0.21741	B	.	.	.	.	0.776014	0.34209	D	0	0.06538	N	3.25	0.06762	T	-0.2	0.10136	N	0.102	0.08506	-1.0305	0.20292	T	0.013	0.04843	T	9	0.034018427	0.01595	T	0.03444	0.55675	D	0.047	0.12962	0.121	0.02793	0.21279746466	0.20884	0.2759241169730396	0.27505	.	.	0.619638323784	0.55678	T	0.011239	0.10051	T	-0.461847	0.00957	T	-0.606353	0.12284	T	0.23448885123401	0.22164	T	0.489451	0.15024	T	0.20148556	0.42160	0.19523439	0.43190	0.20148556	0.42160	0.19523439	0.43189	-3.99	0.23654	T	.	.	0.138	0.30211	B	.	.	3.341975	0.46053	22.2	0.99593804178497203	0.73748	0.69968	0.34399	D	AEFDBI	0.139007	0.26047	N	-0.332022627819607	0.27939	1.536899	-0.191912270171172	0.31832	1.805229	0.314874821535309	0.19325	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	3.55	2.41	0.28644	2.555000	0.45515	2.685000	0.34045	0.586000	0.30580	0.389000	0.26079	0.982000	0.30508	0.997000	0.79791	0.0:0.2461:0.7539:0.0	8.259	0.30938	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	660.33	33	chr19	55577985	.	G	C	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=694;ExcessHet=0;FS=4.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.709;SOR=1.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,104,1161:.	18	0	1	0
chr19	55602285	55602285	C	G	exonic	ZNF524	.	nonsynonymous SNV	ZNF524:NM_153219:exon2:c.C173G:p.P58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0114596281882	.	.	2.089e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs746085607	4.871e-06	5.472e-06	5.524e-06	4.208e-06	5.454e-06	2.03e-06	1.3e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.454e-06	1.685e-05	0	1.97e-05	1.97e-05	3.852e-05	0	4.822e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.08	0.41913	T	0.435	0.35719	B	0.052	0.25551	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.34	0.06063	T	-2.49	0.54217	N	0.086	0.06322	-0.9770	0.35683	T	0.011	0.04274	T	9	0.09075251	0.15836	T	0.01146	0.29107	T	0.055	0.15663	0.344	0.33788	0.332133492242	0.32818	0.32060164933476404	0.31973	0.619323808948	0.56287	0.422900080681	0.28235	T	0.067719	0.33273	T	-0.395834	0.02466	T	-0.608048	0.12143	T	0.0656320783009711	0.08024	T	0.50295	0.15803	T	0.11581066	0.27323	0.14993261	0.35380	0.11581066	0.27323	0.14993261	0.35379	-3.892	0.22182	T	.	.	0.125	0.35540	B	.;.;.	.;.;.	2.327456	0.29814	18.24	0.97119597661520962	0.32447	0.21517	0.21429	N	AEFBI	0.122112	0.23710	N	-0.603022873375488	0.18852	0.9821442	-0.635689602698136	0.18578	0.9930912	0.999982382945897	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	3.4	3.4	0.38031	0.566000	0.23296	7.215000	0.57832	0.599000	0.40250	0.004000	0.16614	0.998000	0.33993	0.015000	0.10482	0.0:1.0:0.0:0.0	10.502	0.43998	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1331.33	35	chr19	55602285	.	C	G	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=819;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.23;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	18	0	1	0
chr19	55613895	55613900	TCCTCG	-	exonic	ZNF865	.	nonframeshift deletion	ZNF865:NM_001195605:exon2:c.277_282del:p.S116_S117del	.	349	1165	7	0	1	8	0.00299529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0058	0	0	0	0.0007	0	0.0009	7.68e-05	2	26028	rs762894169	0.0014	0.0013	0.0014	0.0014	0.0022	0.0013	0.0013	0.0018	0.0016	0.0013	0.0009	0.0004	0.0022	0.0001	0.0018	0.0014	0.0018	0.0013	0.0013	0.0013	0.0013	0.0013	0.0027	0.0011	0.0011	0.0017	0.0013	0.0015	0	0.0006	0.0003	0.0027	0.0003	0	0.0015	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1059.29	35	chr19	55613894	.	CTCCTCG	C	1059.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.93;DP=740;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.902;SOR=1.262	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1332	18	0	1	0
chr19	55615585	55615585	C	T	exonic	ZNF865	.	nonsynonymous SNV	ZNF865:NM_001195605:exon2:c.C1967T:p.A656V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104490117142	.	.	0.0001	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs767390758	3.772e-05	3.557e-05	3.723e-05	3.822e-05	0.0004	2.929e-05	2.652e-05	6.202e-05	2.674e-05	0	2.84e-05	0	0	2.989e-05	0.0004	3.994e-05	6.936e-05	1.272e-05	3.286e-05	3.284e-05	5.139e-05	1.345e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.518	0.07307	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.29	0.06445	T	0.15	0.05310	N	0.312	0.35194	.	.	.	.	.	.	.	0.09280419	0.16372	T	0.10449	0.77909	D	.	.	.	.	0.322230723748	0.31824	0.14471222710595127	0.14394	.	.	0.78690379858	0.79971	T	0.003344	0.02748	T	-0.468771	0.00865	T	-0.656088	0.08533	T	.	.	.	0.507449	0.16094	T	0.09031045	0.21128	0.06227947	0.12159	0.09031045	0.21127	0.06227947	0.12159	-5.488	0.41756	T	.	.	0.096	0.15206	B	.	.	0.857987	0.12304	8.844	0.98693551987549788	0.44795	0.10970	0.16318	N	AEFDBCI	0.066180	0.12948	N	.	.	.	.	.	.	0.0734315665794744	0.15634	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.8	2.6	0.30173	-0.078000	0.11338	1.277000	0.25327	0.520000	0.23804	0.000000	0.06391	0.001000	0.17328	0.118000	0.19084	0.0:0.6754:0.3246:0.0	12.435	0.54929	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1609.33	34	chr19	55615585	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=754;ExcessHet=0;FS=3.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-1.73;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1263	18	0	1	0
chr19	55622023	55622023	T	C	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.A700G:p.T234A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0313882239869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.688	0.05958	T	0.414	0.35185	B	0.161	0.34794	B	0.000724	0.42129	D	0.000000	1	0.81001	D	0.29	0.10111	N	3.21	0.07125	T	-2.47	0.53898	N	0.047	0.01911	-0.9192	0.45662	T	0.013	0.05081	T	10	0.11273566	0.21155	T	0.031388	0.53482	D	0.028	0.06331	0.305	0.27485	0.0611884634855	0.05136	0.16144037088370353	0.16065	1.46402968978	0.86419	0.808651208878	0.83286	D	0.091322	0.38770	T	-0.227925	0.16923	T	-0.565175	0.15894	T	0.709555208683014	0.41179	D	0.378962	0.09121	T	0.09621409	0.22659	0.10943055	0.26374	0.09621409	0.22658	0.10943055	0.26374	-5.397	0.40891	T	.	.	0.758	0.75412	P	.	.	3.651703	0.51831	23.2	0.99219921862292337	0.55870	0.39079	0.26132	N	AEFDBHCI	0.111321	0.22044	N	-0.51165640363641	0.21703	1.153691	-0.463722002399163	0.23160	1.261626	0.99804520461249	0.36353	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	3.48	2.45	0.28953	0.210000	0.17249	2.620000	0.33629	0.607000	0.46521	0.036000	0.20778	1.000000	0.68203	0.982000	0.59238	0.0:0.1002:0.0:0.8998	8.466	0.32117	911	0.21964	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	678.33	36	chr19	55622023	.	T	C	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.035;DP=716;ExcessHet=0;FS=4.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.69;SOR=0.313	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1140	18	0	1	0
chr19	55622185	55622185	C	T	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.G538A:p.E180K	.	326	1176	20	0	0	20	0.0084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0091853	0.0179	0.0060	0	0	0	0.0078	0	0.0236	0.0042237	653	154602	rs200843026	0.0100	0.0097	0.0098	0.0103	0.0203	0.0099	0.0098	0.0195	0.0191	0.0013	0.0027	0.0031	0	0.0110	0.0069	0.0103	0.0087	0.0203	0.0065	0.0065	0.0065	0.0064	0.0223	0.0061	0.0060	0.0189	0.0176	0.0014	0	0.0030	0.0032	0.0004	0.0059	0	0.0101	0.0038	0.0223	0.506	0.07594	T	0.83	0.03717	T	0.895	0.49247	P	0.191	0.36391	B	0.001782	0.37998	N	0.000000	1	0.81001	D	0.895	0.22405	L	2.99	0.09262	T	0.14	0.05405	N	0.075	0.04913	-0.9087	0.47013	T	0.014	0.05753	T	10	0.003662169	0.00067	T	.	.	.	0.081	0.23632	.	.	0.186928172975	0.18263	0.34875874643154625	0.34789	1.55192575573	0.87917	0.892487764359	0.95567	D	0.004066	0.03473	T	-0.509117	0.00508	T	-0.487831	0.23619	T	0.0175677526721644	0.00490	T	0.713029	0.32487	T	0.12963565	0.30272	0.116971575	0.28237	0.12963565	0.30271	0.116971575	0.28236	-4.935	0.36126	T	.	.	0.355	0.56920	A	.	.	3.237655	0.44185	21.9	0.99802079065761995	0.88639	0.31536	0.24362	N	AEFDBCI	0.097369	0.19640	N	-0.357853418025427	0.26985	1.477026	-0.387883954714795	0.25357	1.393988	0.995097536887973	0.33950	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	3.21	3.21	0.35933	0.983000	0.29150	2.625000	0.33658	0.522000	0.23927	0.095000	0.22689	0.858000	0.27459	0.539000	0.29915	0.0:1.0:0.0:0.0	10.200	0.42254	911	0.21964	.	ZNF784|ZNF784|CTD-2537I9.18|ZNF784	Adipose_Subcutaneous|Nerve_Tibial|Thyroid|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002176	0.005682	0.002933	0.000000	0.000000	0.000000	0.003425	0.000000	0.05263	896.83	53	chr19	55622185	.	C	T	896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=716;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.207;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1140	17	0	2	0
chr19	55678602	55678602	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_001130071:exon3:c.G308A:p.C103Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0396148521541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.961e-07	4.104e-06	0	1.403e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.681	0.41422	P	0.089	0.29769	B	.	.	.	.	1	0.21028	N	.	.	.	2.47	0.14783	T	0.0	0.07008	N	0.266	0.30118	-1.0383	0.17832	T	0.026	0.11043	T	8	0.13506365	0.25702	T	0.039615	0.58911	D	0.074	0.21613	0.242	0.17524	0.252162846088	0.24830	0.4719233532865524	0.47111	1.46174912538	0.86360	0.445617675781	0.31346	T	.	.	.	-0.301337	0.08534	T	-0.670626	0.07569	T	0.268650916351005	0.23689	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	-5.622	0.42993	T	.	.	0.167	0.36850	B	.	.	1.253358	0.16501	12.58	0.94829923703279739	0.25609	0.05579	0.11480	N	AEFGBHCI	0.150124	0.27436	N	-0.528129356396981	0.21175	1.121815	-0.650444670833936	0.18206	0.9715283	0.99999978250242	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	2.56	1.5	0.22029	-0.094000	0.11060	1.238000	0.25088	0.613000	0.49114	0.000000	0.06391	0.022000	0.20871	0.497000	0.28949	0.0:0.3106:0.6894:0.0	8.603	0.32918	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1911.33	41	chr19	55678602	.	G	A	1911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.19;SOR=0.714	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1350	18	0	1	0
chr19	55785653	55785653	G	A	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon11:c.C2777T:p.S926L,NLRP11:NM_001385451:exon11:c.C2912T:p.S971L,NLRP11:NM_001385453:exon11:c.C2903T:p.S968L,NLRP11:NM_145007:exon12:c.C3074T:p.S1025L	.	438	1071	11	2	0	15	0.0069541	.	.	.	716691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0075	0.00239617	0.0068	0.0019	0.0042	0	0.0017	0.0106	0.0066	0.0018	0.0070892	1096	154602	rs11671248	0.0087	0.0087	0.0089	0.0084	0.0102	0.0085	0.0085	0.0101	0.0100	0.0012	0.0064	0.0073	2.519e-05	0.0026	0.0078	0.0102	0.0075	0.0015	0.0069	0.0069	0.0076	0.0062	0.0108	0.0066	0.0064	0.0102	0.0099	0.0022	0.0307	0.0077	0.0081	0.0002	0.0023	0.0170	0.0108	0.0076	0.0014	.	.	.	0.0	0.92824	D	0.995	0.67487	D	0.685	0.53610	P	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.87	0.75001	T	.	.	.	0.102	0.15469	-0.8438	0.52392	T	0.170	0.51101	T	9	0.0074005127	0.00168	T	.	.	.	.	.	.	.	0.69812237785	0.69551	0.06583810391804383	0.06522	.	.	0.388072490692	0.23399	T	0.004231	0.03640	T	-0.54615	0.00308	T	-0.545607	0.17750	T	0.00440342218219373	0.00047	T	0.677732	0.28664	T	0.049339827	0.08747	0.082230024	0.18749	0.049339827	0.08746	0.082230024	0.18749	-3.304	0.13971	T	.	.	0.166	0.36673	B	.;.;.	.;.;.	0.264754	0.06429	2.900	0.96319911483098941	0.29410	0.00550	0.02521	N	AEFDBI	0.034512	0.04287	N	-0.946028718268307	0.09781	0.4644893	-1.16136575257668	0.06565	0.3164722	2.28868471596766E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.46	0.08338	0.065000	0.14336	1.019000	0.23391	-0.816000	0.03012	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.5889:0.4111:0.0	6.723	0.22527	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.005051	0.014946	0.020468	0.000000	0.008621	0.018293	0.000000	0.02632	1262.33	34	chr19	55785653	.	G	A	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=743;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-1.58;SOR=0.954	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr19	55789259	55789259	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2357A:p.R786K,NLRP11:NM_001385451:exon9:c.G2492A:p.R831K,NLRP11:NM_145007:exon10:c.G2654A:p.R885K	.	421	1100	1	0	0	1	0.000454339	.	.	.	4004155	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00305001854726	.	.	5.84e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs762908354	3.148e-05	3.147e-05	1.498e-05	4.815e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	6.569e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.365	0.16717	T	0.014	0.19075	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.37	0.03087	N	1.05	0.39990	T	.	.	.	0.09	0.06854	-1.0222	0.22998	T	0.024	0.10239	T	9	0.039215118	0.02395	T	0.00305	0.06577	T	.	.	0.56	0.67958	0.119812018005	0.11559	0.1020061422669596	0.10131	.	.	0.228957727551	0.01892	T	0.003106	0.02504	T	-0.61274	0.00122	T	-0.807416	0.01724	T	0.024019916793824	0.01148	T	0.331767	0.06954	T	0.03229003	0.03227	0.04602542	0.06324	0.03229003	0.03227	0.04602542	0.06324	-2.739	0.08018	T	.	.	0.112	0.21803	B	.;.;.	.;.;.	-1.013496	0.00752	0.023	0.36984141538716858	0.02410	0.00052	0.00397	N	AEFBI	0.021658	0.00989	N	-1.87946621574834	0.00378	0.01625798	-1.91850954692709	0.00450	0.01990775	0.00222482917535886	0.09245	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.85	-5.71	0.02218	-0.973000	0.03908	-12.751000	0.00503	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2605:0.46:0.2795	5.500	0.16114	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2538.33	37	chr19	55789259	.	C	T	2538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.636;DP=915;ExcessHet=0;FS=8.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.048;SOR=0.79	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	55881565	55881565	C	A	exonic	NLRP4	.	nonsynonymous SNV	NLRP4:NM_134444:exon10:c.C2963A:p.T988K	.	.	.	.	.	.	.	.	.	.	.	4004217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0112993030675	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs777582848	7.715e-06	2.944e-05	4.2e-06	1.124e-05	9.264e-06	4.14e-06	3.03e-06	4.68e-06	3.42e-06	0	0	0	0	0	0	9.264e-06	1.691e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	-0.76	0.74689	T	0.17	0.05125	N	0.146	0.14763	-0.9977	0.30563	T	0.117	0.41320	T	9	0.0851998	0.14360	T	0.011299	0.28784	T	0.058	0.16647	0.47	0.54376	0.316198179892	0.31222	0.5052005209967927	0.50442	0.248531968292	0.27419	0.307821154594	0.11578	T	0.013139	0.11417	T	-0.138247	0.30169	T	-0.436359	0.29217	T	0.294310156085134	0.24769	T	0.390061	0.09662	T	0.09939201	0.23456	0.15555587	0.36459	0.09939201	0.23456	0.15555587	0.36458	-3.972	0.23383	T	.	.	0.122	0.25592	B	.;.	.;.	-0.051906	0.03937	0.876	0.72667472352351836	0.10053	0.00779	0.03201	N	AEFBI	0.032795	0.03771	N	-1.62217115341197	0.01158	0.05031711	-1.67289290467616	0.01262	0.0568966	6.74914561957801E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-3.13	0.04944	-0.819000	0.04569	-0.486000	0.08890	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4526:0.2626:0.2848:0.0	3.758	0.08119	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	37	chr19	55881565	.	C	A	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.945;SOR=0.705	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	55932076	55932076	C	A	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon1:c.G236T:p.G79V,NLRP13:NM_176810:exon1:c.G236T:p.G79V	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00388345138052	.	.	0.0002	0	0	0.0006	0	5.998e-05	0	0.0008	0.0001423	22	154602	rs763183429	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	3.826e-05	0.0012	0	0	2.068e-05	0.0003	0.0014	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0010	0.089	0.32141	T	0.159	0.39190	T	0.494	0.37037	P	0.17	0.35299	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.79	0.49068	T	-1.2	0.30555	N	0.241	0.27197	-1.0538	0.13359	T	0.055	0.23262	T	9	0.045886666	0.03712	T	0.003883	0.09117	T	0.025	0.05312	.	.	0.422524665647	0.41870	0.04786445269929214	0.04729	0.0649752695201	0.07257	0.296583533287	0.09892	T	0.003937	0.03343	T	-0.547231	0.00303	T	-0.62359	0.10906	T	0.0403642070663377	0.03756	T	0.424958	0.11391	T	0.035819564	0.04288	0.042790435	0.05176	0.035819564	0.04288	0.042790435	0.05175	-4.579	0.31907	T	.	.	0.141	0.32275	B	.;.	.;.	-0.027328	0.04097	0.964	0.97098106973445952	0.32353	0.00367	0.01872	N	AEFBI	0.032899	0.03801	N	-1.05794897177841	0.07432	0.3452459	-1.21220008796217	0.05713	0.2729874	2.42182165804857E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.97	-1.62	0.07926	-1.187000	0.03176	-2.357000	0.03856	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.257:0.4052:0.0:0.3377	2.055	0.03362	934	0.15400	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	35	chr19	55932076	.	C	A	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.785;DP=745;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.26;SOR=0.55	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1295	18	0	1	0
chr19	55962126	55962126	C	T	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon4:c.C2102T:p.T701M,NLRP8:NM_176811:exon4:c.C2102T:p.T701M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0221049502089	.	0.000199681	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs191970413	2.189e-05	2.257e-05	1.633e-05	2.75e-05	9.275e-05	1.584e-05	1.356e-05	4.578e-05	3.272e-05	2.987e-05	2.236e-05	0	0	0	0	1.799e-05	3.312e-05	9.275e-05	6.566e-06	1.312e-05	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.003	0.76473	D	0.687	0.90584	P	0.38	0.68939	B	.	.	.	.	1	0.08975	N	1.905	0.50856	L	-3.26	0.93587	D	-4.27	0.76254	D	0.262	0.29659	0.178	0.85534	D	0.838	0.94578	D	9	0.166832	0.31142	T	0.022105	0.44964	T	0.261	0.57352	.	.	0.482936932564	0.47924	0.34171093755874205	0.34084	0.365203198868	0.38123	0.433831989765	0.29733	T	0.023231	0.17768	T	-0.194321	0.21625	T	-0.335377	0.40868	T	0.313451933215942	0.25555	T	0.484552	0.14745	T	0.03095673	0.02848	0.06661255	0.13670	0.03095673	0.02848	0.06661255	0.13670	-6.347	0.50086	T	.	.	0.117	0.25721	B	.;.	.;.	1.415315	0.18313	13.67	0.93475055346120894	0.23269	0.01468	0.04899	N	AEFDBI	0.028623	0.02556	N	-0.535084296835173	0.20954	1.108454	-0.804864357667357	0.14378	0.7509364	2.70244256135706E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	0.878	0.18285	-0.251000	0.08837	0.075000	0.14313	-0.862000	0.02622	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8069:0.0:0.1931	4.662	0.12035	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1168.33	46	chr19	55962126	.	C	T	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=795;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.389;SOR=0.502	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr19	55962195	55962195	C	A	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon4:c.C2171A:p.A724E,NLRP8:NM_176811:exon4:c.C2171A:p.A724E	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0144350505948	0.0022	0.000798722	0.0023	9.61e-05	0.0010	0	0.0014	0.0036	0.0066	0.0003	0.0021151	327	154602	rs147934431	0.0023	0.0023	0.0023	0.0023	0.0050	0.0022	0.0022	0.0036	0.0031	0.0003	0.0015	0.0135	0	0.0012	0.0050	0.0023	0.0031	0.0003	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0022	0.0020	0.0004	0	0.0016	0.0153	0	0.0006	0.0136	0.0025	0.0043	0.0002	0.311	0.13971	T	0.012	0.63918	D	0.101	0.49514	B	0.103	0.52567	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.38	0.88298	D	-2.6	0.55983	D	0.39	0.46649	-0.3687	0.73001	T	0.556	0.83798	D	9	0.010375053	0.00231	T	0.014435	0.34558	T	0.363	0.68319	.	.	0.558578966169	0.55518	0.403351850508921	0.40251	0.231264525672	0.25667	0.371693074703	0.21075	T	0.037425	0.24472	T	-0.344524	0.05080	T	-0.271653	0.47652	T	0.0677927557994121	0.08339	T	0.454655	0.12977	T	0.20442572	0.42552	0.18828152	0.42109	0.20442572	0.42552	0.18828152	0.42108	-6.558	0.50731	T	.	.	0.429	0.61306	A	.;.	.;.	1.141581	0.15289	11.74	0.48452395921202884	0.04045	0.00850	0.03394	N	AEFBI	0.029246	0.02725	N	-0.796659618727498	0.13397	0.6596555	-0.987744859209959	0.10060	0.5043152	1.71211778106922E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-0.552	0.11227	0.129000	0.15656	0.085000	0.14440	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2704:0.4646:0.2651:0.0	4.059	0.09307	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1290.33	46	chr19	55962195	.	C	A	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=817;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.068;SOR=0.829	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.02632	1726.33	147	chr19	56027647	.	G	A	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=1704;ExcessHet=0;FS=9.443;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.849;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr19	56028047	56028047	C	T	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.C1814T:p.P605L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0126382914153	.	.	2.489e-05	0	0	0	0	1.502e-05	0	0.0001	1.94e-05	3	154602	rs753087182	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.385	0.11015	T	0.648	0.06788	T	0.009	0.15093	B	0.008	0.13708	B	0.020748	0.01539	N	3.034970	1	0.08975	N	0.755	0.19153	N	-0.67	0.72458	T	-1.93	0.44852	N	0.154	0.15888	-0.9900	0.32601	T	0.169	0.50874	T	10	0.082118034	0.13519	T	0.012638	0.31390	T	0.089	0.25827	0.438	0.49157	0.406394481233	0.40250	0.09059805206514152	0.08992	0.024721940984	0.02516	0.195118010044	0.00329	T	0.188785	0.54281	T	-0.295555	0.09086	T	-0.565467	0.15866	T	0.0258927702546253	0.01391	T	0.538446	0.18153	T	0.024784833	0.01345	0.03304058	0.02136	0.024784833	0.01345	0.03304058	0.02135	-5.106	0.37971	T	.	.	0.113	0.22354	B	.;.	.;.	0.164084	0.05541	2.001	0.37960251413547608	0.02532	0.00838	0.03362	N	AEFDBI	0.039545	0.05760	N	-1.59494245352046	0.01290	0.0561554	-1.72232198926038	0.01042	0.04675831	0.0210663181658216	0.13316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.98	-5.96	0.02047	-1.868000	0.01736	-0.419000	0.09297	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3679:0.3545:0.2776:0.0	5.58	0.16527	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2563.33	45	chr19	56028047	.	C	T	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.726;DP=880;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.389;SOR=0.414	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	18	0	1	0
chr19	56102845	56102845	C	T	exonic	ZNF787	.	nonsynonymous SNV	ZNF787:NM_001351682:exon2:c.G373A:p.V125I	.	400	1095	27	0	0	27	0.0121786	.	.	.	3185298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0099	0	0	0	0	0.0072	0	0.0133	0.0014877	230	154602	rs150201146	0.0055	0.0057	0.0053	0.0057	0.0078	0.0053	0.0053	0.0072	0.0070	0.0013	0.0030	0.0050	0.0002	0.0024	0.0056	0.0065	0.0054	0.0078	0.0043	0.0043	0.0044	0.0041	0.0063	0.0040	0.0039	0.0058	0.0056	0.0014	0.0044	0.0048	0.0055	0	0.0024	0.0034	0.0063	0.0052	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.0038289726	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.838683	0.00003	T	-0.971937	0.00201	T	.	.	.	0.270173	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34840	B	.	.	-0.481096	0.01929	0.163	0.64026388049786265	0.07381	0.00202	0.01159	N	AEFDBI	0.017101	0.00426	N	.	.	.	.	.	.	0.995142174947422	0.33974	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	1.13	-2.26	0.06478	-3.001000	0.00716	.	.	-3.812000	0.00058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2438:0.4398:0.0:0.3163	2.775	0.05016	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	897.33	34	chr19	56102845	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.79;SOR=0.613	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr19	56190317	56190317	T	C	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon5:c.A998G:p.H333R,ZSCAN5B:NM_001385638:exon5:c.A998G:p.H333R	.	418	1098	6	0	0	6	0.0027248	.	.	.	2361371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.000556000896362	.	.	0.0001	9.819e-05	0	0	0	0.0002	0	0	0.0001358	21	154602	rs201080393	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	6.708e-05	0	0	0	0.0014	0.0002	0.0002	2.319e-05	7.88e-05	7.874e-05	6.424e-05	9.403e-05	0.0001	4.494e-05	3.51e-05	4.764e-05	3.338e-05	4.818e-05	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.342	0.12632	T	0.381	0.15939	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	3.41	0.05574	T	-1.25	0.31576	N	0.051	0.02759	-0.9376	0.42994	T	0.014	0.05705	T	9	0.038033605	0.02195	T	5.56E-4	0.00208	T	0.004	0.00165	.	.	0.0611884634855	0.05136	0.12433229418025342	0.12359	0.0133580702497	0.01285	0.326631963253	0.14426	T	0.003339	0.02748	T	-0.577955	0.00198	T	-0.783255	0.02356	T	0.0486454646182134	0.05259	T	0.605339	0.22755	T	0.09153786	0.21451	0.099667996	0.23806	0.09153786	0.21451	0.099667996	0.23806	-2.66	0.06973	T	.	.	0.176	0.38516	B	.;.	.;.	-0.883343	0.00954	0.037	0.7824155145048125	0.12216	0.00365	0.01864	N	AEFBI	0.032736	0.03752	N	-1.07290504417891	0.07146	0.3310901	-1.15095408558243	0.06751	0.3260159	1.73776932702402E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.76	0.393	0.15517	-4.206000	0.00312	.	.	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.1688:0.0:0.2833:0.5479	3.918	0.08731	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2889.33	34	chr19	56190317	.	T	C	2889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.7;DP=863;ExcessHet=0;FS=2.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.737;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	18	0	1	0
chr19	56191870	56191870	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.G568A:p.A190T,ZSCAN5B:NM_001385638:exon3:c.G568A:p.A190T	.	426	1092	4	0	0	4	0.00182815	.	.	.	3421077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000522994835994	.	.	0.0001	0	0	0	0	7.581e-05	0	0.0005	9.06e-05	14	154602	rs757976812	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0016	4.059e-05	3.734e-05	0.0008	0.0006	0	8.944e-05	3.826e-05	7.557e-05	0	0.0016	1.979e-05	0.0001	0.0003	5.26e-05	5.254e-05	5.142e-05	5.382e-05	0.0002	2.558e-05	1.831e-05	1.972e-05	1.125e-05	2.415e-05	0	6.549e-05	0	0.0002	0	0.0032	5.881e-05	0	0	0.501	0.07720	T	0.734	0.05090	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.21	0.04776	N	0.105	0.08925	-0.9716	0.36862	T	0.006	0.01870	T	9	0.028461218	0.00978	T	5.23E-4	0.00174	T	0.020	0.03691	0.384	0.40298	0.0482279557977	0.04254	0.03744932293745089	0.03690	0.0130179826969	0.01253	0.31578502059	0.12783	T	0.003761	0.03171	T	-0.673305	0.00053	T	-0.900385	0.00500	T	0.0124382818815172	0.00204	T	0.269973	0.04523	T	0.026911257	0.01810	0.048033446	0.07048	0.026911257	0.01809	0.048033446	0.07048	-3.598	0.17828	T	.	.	0.178	0.40889	B	.;.	.;.	-1.006235	0.00762	0.024	0.77052528778526319	0.11717	0.00072	0.00504	N	AEFBI	0.018723	0.00590	N	-1.96066572043616	0.00257	0.01100672	-2.03682902796366	0.00256	0.01127441	0.00102754490975278	0.08137	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-3.81	0.04013	-2.429000	0.01101	.	.	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1407:0.3668:0.2783:0.2142	1.615	0.02538	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1757.33	34	chr19	56191870	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.164;DP=750;ExcessHet=0;FS=9.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.303;SOR=0.255	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1771,0,1649	18	0	1	0
chr19	56208826	56208826	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1117A:p.V373I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000226132683067	.	.	4.463e-05	0	0	0	0	6.471e-05	0	6.355e-05	4.53e-05	7	154602	rs200083612	6.757e-05	6.712e-05	7.252e-05	6.262e-05	7.713e-05	5.644e-05	5.242e-05	6.337e-05	5.823e-05	3.138e-05	2.254e-05	0.0001	0	0	0	7.713e-05	6.832e-05	4.705e-05	5.274e-05	5.253e-05	3.869e-05	6.741e-05	7.356e-05	2.564e-05	1.835e-05	2.848e-05	1.859e-05	2.433e-05	0	6.549e-05	0	0	0	0	7.356e-05	0.0005	0	1.0	0.00964	T	0.973	0.02465	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	0.61	0.02480	N	0.031	0.01068	-1.0011	0.29602	T	0.013	0.04938	T	6	0.046458095	0.03839	T	2.26E-4	0.00006	T	0.010	0.01040	0.247	0.18293	0.0401082797425	0.02173	0.02805130801003512	0.02755	0.00738871656898	0.00648	.	.	.	5.97E-4	0.00245	T	-0.554251	0.00275	T	-0.818585	0.01481	T	0.0311967388504689	0.02177	T	0.473453	0.14099	T	0.015106304	0.00122	0.024336869	0.00452	0.015106304	0.00122	0.024336869	0.00452	-3.09	0.11182	T	.	.	0.183	0.40229	B	.;.	.;.	-1.249987	0.00483	0.010	0.1820342062255913	0.00562	0.00029	0.00276	N	AEFDGBI	0.020513	0.00818	N	-1.65724445749086	0.01005	0.04356123	-1.89122906459377	0.00510	0.02258063	0.190015975158835	0.17987	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	-2.76	0.05547	-4.542000	0.00251	.	.	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2589:0.4055:0.3356:0.0	4.329	0.10493	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4578.33	43	chr19	56208826	.	G	A	4578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=1416;ExcessHet=0;FS=1.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.39;SOR=0.596	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr19	56208883	56208883	C	T	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.C1174T:p.R392C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000307774122481	.	0.000199681	6.38e-05	0	0	0.0009	0	0	0	0	5.17e-05	8	154602	rs538143117	4.363e-05	4.312e-05	4.554e-05	4.171e-05	0.0013	3.485e-05	3.168e-05	0.0010	0.0009	3.056e-05	2.261e-05	0	0.0013	0	0	7.294e-06	5.016e-05	0	6.587e-05	6.564e-05	3.866e-05	9.43e-05	0.0015	3.525e-05	2.622e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0.0010	0	0.146	0.25055	T	0.151	0.32355	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	-0.78	0.21644	N	0.071	0.05799	-1.0091	0.27198	T	0.044	0.18989	T	6	0.024573684	0.00681	T	3.08E-4	0.00027	T	0.019	0.03383	0.672	0.81002	0.16115917748	0.15686	0.13092278076956562	0.13017	0.00642566875266	0.00562	.	.	.	0.003558	0.02970	T	-0.631258	0.00094	T	-0.686011	0.06623	T	0.0283919194371774	0.01745	T	0.758824	0.38273	T	0.053444095	0.10114	0.03713408	0.03303	0.053444095	0.10114	0.03713408	0.03302	-6.007	0.46339	T	.	.	0.367	0.58721	A	.;.	.;.	1.744880	0.22204	15.52	0.99430801815018321	0.64276	0.00905	0.03541	N	AEFDGBI	0.066867	0.13115	N	-0.772226296927566	0.14037	0.6960509	-0.998073244575275	0.09828	0.491271	3.37802320805266E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	1.38	0.242	0.14759	-0.785000	0.04735	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3832:0.6168:0.0	5.296	0.15062	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3064.33	43	chr19	56208883	.	C	T	3064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=1084;ExcessHet=0;FS=3.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.67;SOR=0.929	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr19	56209034	56209034	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1325A:p.C442Y	.	.	.	.	.	.	.	.	.	.	.	2818885	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	.	0.00319489	0.0007	0.0086	0.0002	0.0001	0	0	0	0	0.0006598	102	154602	rs531838465	0.0002	0.0002	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0078	0.0090	0.0002	0	0	0	0	2.701e-06	0.0002	0	0.0023	0.0023	0.0021	0.0025	0.0084	0.0021	0.0020	0.0076	0.0073	0.0084	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999167	0.46223	D	.	.	.	-1.94	0.84919	D	-10.67	0.99143	D	0.362	0.41754	0.250	0.86741	D	0.626	0.86850	D	6	0.006803572	0.00155	T	.	.	.	0.329	0.65126	.	.	0.819998185155	0.81830	0.3739498381256212	0.37308	0.0320622411554	0.03334	.	.	.	0.360376	0.72663	T	-0.26607	0.12198	T	-0.150262	0.59221	T	0.209838992617478	0.20945	T	0.856214	0.54490	D	0.7982305	0.83793	0.62965244	0.78399	0.7982305	0.83794	0.62965244	0.78400	-13.166	0.90035	D	.	.	0.979	0.91974	P	.;.	.;.	3.374172	0.46641	22.3	0.95283838214900585	0.26582	0.89325	0.49722	D	AEFDBI	0.571550	0.57549	D	-0.178788124984375	0.34018	1.936743	-0.302813743432898	0.28008	1.558286	0.967553603086696	0.28986	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	1.96	1.96	0.25203	5.897000	0.69569	.	.	0.509000	0.23192	1.000000	0.71638	0.550000	0.25463	0.007000	0.07825	0.0:0.0:1.0:0.0	9.508	0.38225	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	4312.33	43	chr19	56209034	.	G	A	4312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=1066;ExcessHet=0;FS=2.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.32;MQRankSum=-1.341;QD=12.11;ReadPosRankSum=-1.104;SOR=0.576	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr19	56221925	56221925	C	T	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.G790A:p.E264K,ZSCAN5A:NM_001322078:exon5:c.G751A:p.E251K,ZSCAN5A:NM_001322062:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322064:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322065:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322066:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322067:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322068:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322070:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322073:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322074:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322075:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_001322076:exon6:c.G1138A:p.E380K,ZSCAN5A:NM_024303:exon6:c.G1141A:p.E381K,ZSCAN5A:NM_001322061:exon7:c.G1138A:p.E380K,ZSCAN5A:NM_001322072:exon7:c.G1141A:p.E381K	.	431	1090	0	1	0	2	0.00091659	.	.	.	2328216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00735883982493	0.0012	0.000599042	0.0005	9.625e-05	0.0003	0	0	0.0008	0.0011	0.0004	0.0005886	91	154602	rs142761513	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	8.961e-05	0.0007	0	0	0	0	0.0009	0.0010	0.0002	0.0010	0.0010	0.0011	0.0008	0.0028	0.0008	0.0008	0.0021	0.0019	0.0002	0.0219	0.0028	0	0	0	0	0.0011	0	0.0002	0.003	0.68238	D	0.022	0.57587	D	0.666	0.41077	P	0.173	0.35463	B	.	.	.	.	0.991148	0.41318	D	1.395	0.35261	L	1.86	0.24285	T	-3.61	0.69477	D	0.16	0.40665	-1.0821	0.06946	T	0.033	0.14203	T	9	0.0070226192	0.00160	T	0.007359	0.19523	T	0.101	0.28911	.	.	0.292423486923	0.28857	0.060627268416438174	0.06002	0.208460879496	0.23317	0.603184819221	0.53353	T	0.248904	0.61877	T	-0.400365	0.02303	T	-0.388406	0.34739	T	0.105175196064128	0.12916	T	0.892511	0.62902	D	0.35423496	0.57394	0.40377566	0.64823	0.35423496	0.57394	0.40377566	0.64823	-9.179	0.68842	D	.	.	0.667	0.73905	P	.;.;.;.	.;.;.;.	3.443239	0.47909	22.5	0.99792056396856188	0.87750	0.85846	0.45026	D	AEFDBHCI	0.663996	0.63332	D	-0.0594150469024834	0.39183	2.306589	-0.0926302318573303	0.35693	2.068092	0.999828921720338	0.43622	0.656854	0.48797	0	0.653731	0.59785	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	2.83	2.83	0.32150	6.092000	0.71061	.	.	0.328000	0.19510	0.997000	0.40164	0.072000	0.22236	0.506000	0.29152	0.0:1.0:0.0:0.0	11.434	0.49297	952	0.10565	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4023.33	34	chr19	56221925	.	C	T	4023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=954;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.313;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr19	56222221	56222221	G	A	exonic	ZSCAN5A	.	nonsynonymous SNV	ZSCAN5A:NM_001322077:exon5:c.C494T:p.S165L,ZSCAN5A:NM_001322078:exon5:c.C455T:p.S152L,ZSCAN5A:NM_001322062:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322064:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322065:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322066:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322067:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322068:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322070:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322073:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322074:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322075:exon6:c.C842T:p.S281L,ZSCAN5A:NM_001322076:exon6:c.C842T:p.S281L,ZSCAN5A:NM_024303:exon6:c.C845T:p.S282L,ZSCAN5A:NM_001322061:exon7:c.C842T:p.S281L,ZSCAN5A:NM_001322072:exon7:c.C845T:p.S282L	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000987357988313	.	.	0.0024	0.0070	0.0007	0.0012	0.0002	0.0015	0	0.0063	0.0001164	18	154602	rs146091512	0.0011	0.0013	0.0010	0.0013	0.0071	0.0011	0.0011	0.0066	0.0065	0.0007	0.0006	0.0116	0.0019	0.0005	0.0035	0.0004	0.0018	0.0071	0.0011	0.0014	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0009	0	0.0006	0.0104	0.0010	0.0007	0.0068	0.0006	0.0019	0.0048	0.187	0.21385	T	0.23	0.25135	T	0.029	0.19866	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	3.36	0.09635	T	-1.94	0.45042	N	0.038	0.16028	-0.9645	0.38310	T	0.014	0.05608	T	9	0.007154286	0.00163	T	9.87E-4	0.01050	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.12724300887959056	0.12650	0.0585099463108	0.06489	0.263565391302	0.05322	T	0.016764	0.45325	T	-0.740293	0.00021	T	-0.833405	0.01203	T	0.000779366579697761	0.00007	T	0.671133	0.29211	T	0.047343127	0.08078	0.047482938	0.06847	0.047343127	0.08078	0.047482938	0.06847	-3.731	0.19776	T	.	.	0.168	0.41918	B	.;.;.;.;.	.;.;.;.;.	0.504653	0.08736	5.511	0.51735068036967002	0.04617	0.01589	0.05168	N	AEFBI	0.039664	0.05794	N	-1.31309409080676	0.03524	0.1575841	-1.47507454624181	0.02550	0.1174874	9.06666100771661E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	1.69	-3.38	0.04577	-1.008000	0.03774	.	.	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3887:0.0:0.4311:0.1802	3.435	0.07012	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006501	0.000000	0.005464	0.000000	0.000000	0.017241	0.016129	0.003788	0.02632	2874.33	34	chr19	56222221	.	G	A	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=864;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-6.484;QD=14.16;ReadPosRankSum=1;SOR=0.839	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr19	56272859	56272859	A	G	exonic	EDDM13	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991238	0.24063	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16421449	0.30728	T	.	.	.	.	.	.	.	.	.	0.20792122020839818	0.20708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384762	0.09420	T	0.11357699	0.26822	0.21406579	0.45942	0.11357699	0.26822	0.21406579	0.45941	-4.161	0.26185	T	.	.	0.533	0.66046	A	.	.	2.488198	0.32099	18.94	0.75226978954844459	0.10993	0.04781	0.10494	N	AEFBI	0.050889	0.08937	N	.	.	.	.	.	.	0.935532070907892	0.27217	0.600919	0.35232	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	2.98	2.98	0.33575	1.081000	0.30402	.	.	0.731000	0.85647	0.012000	0.18695	1.000000	0.68203	0.185000	0.21450	1.0:0.0:0.0:0.0	7.772	0.28180	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	33.0	.	chr19	56272859	.	A	G	33.0	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.383;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	0	1	10
chr19	56302010	56302010	C	T	exonic	EDDM13	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	1.368e-06	0	1.961e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.289e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093295515	0.16497	T	.	.	.	.	.	.	.	.	.	0.005647955677539991	0.00534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432057	0.11757	T	0.026591033	0.01736	0.051613946	0.08343	0.026591033	0.01736	0.051613946	0.08342	-3.535	0.16926	T	.	.	0.116	0.23255	B	.	.	0.223874	0.06058	2.502	0.73332109420072888	0.10290	0.01726	0.05462	N	ALL	0.046165	0.07636	N	.	.	.	.	.	.	0.999999678785479	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	0.932	-0.242	0.12396	-0.895000	0.04226	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.6825:0.0:0.3175	3.297	0.06562	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	32.65	.	chr19	56302010	.	C	T	32.65	.	AC=2;AF=0.063;AN=32;DP=49;ExcessHet=0;FS=0;InbreedingCoeff=0.3218;MLEAC=1;MLEAF=0.031;MQ=60;QD=16.32;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,109	15	1	0	3
chr19	56423401	56423401	C	T	exonic	ZNF583	.	nonsynonymous SNV	ZNF583:NM_001159860:exon5:c.C743T:p.T248M,ZNF583:NM_001159861:exon5:c.C743T:p.T248M,ZNF583:NM_152478:exon5:c.C743T:p.T248M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0132501974951	.	.	8.305e-06	0	0	0	0	1.511e-05	0	0	1.94e-05	3	154602	rs200724967	4.721e-05	4.72e-05	5.037e-05	4.401e-05	5.576e-05	3.794e-05	3.476e-05	4.439e-05	4.029e-05	2.987e-05	0	0	0	0	0	5.576e-05	8.281e-05	1.159e-05	4.603e-05	4.598e-05	5.142e-05	4.039e-05	8.821e-05	2.111e-05	1.528e-05	3.762e-05	2.575e-05	0	0	6.551e-05	0	0	0	0	8.821e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.885	0.62825	P	0.008176	0.30981	N	0.151456	1	0.08975	N	1.57	0.39626	L	1.26	0.36330	T	-1.94	0.45042	N	0.084	0.06059	-1.0010	0.29631	T	0.131	0.44088	T	9	0.15928221	0.29931	T	0.01325	0.32506	T	0.078	0.22779	.	.	0.619248587047	0.61616	0.15939891142175933	0.15860	0.591036329476	0.54550	0.316146790981	0.12838	T	0.054407	0.29715	T	-0.326162	0.06405	T	-0.54992	0.17333	T	0.232529327273369	0.22071	T	0.247375	0.03654	T	0.10652378	0.25188	0.14677249	0.34758	0.10652378	0.25188	0.14677249	0.34758	-8.621	0.65228	D	.	.	0.128	0.30608	B	.;.	.;.	3.236576	0.44165	21.9	0.99753431525988401	0.84460	0.00006	0.00120	N	AEFDGBHCI	0.100102	0.20136	N	-0.0316825273823774	0.40423	2.400412	-0.181581048656744	0.32213	1.830519	0.0260131815130392	0.13685	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.43	3.38	0.37806	0.008000	0.13095	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1791:0.5546:0.1731:0.0932	3.419	0.06958	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1024.33	33	chr19	56423401	.	C	T	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.847;DP=717;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.521;SOR=0.342	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr19	56555274	56555274	A	G	exonic	ZFP28	.	nonsynonymous SNV	ZFP28:NM_020828:exon8:c.A2489G:p.H830R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00308118914627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.02712	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	0.047834	0.23307	N	0.217670	1	0.08975	N	-1.565	0.00454	N	1.78	0.25678	T	-2.0	0.46146	N	0.099	0.08088	-0.9438	0.42009	T	0.010	0.03765	T	10	0.035932243	0.01866	T	0.003081	0.06666	T	0.076	0.22200	0.198	0.11110	0.112648838833	0.10856	0.04586200657798249	0.04530	0.218615771125	0.24401	0.319124221802	0.13289	T	0.038584	0.24892	T	-0.312535	0.07527	T	-0.686711	0.06581	T	0.0545217227998171	0.06277	T	0.40156	0.10241	T	0.10827515	0.25600	0.069918394	0.14791	0.10827515	0.25600	0.069918394	0.14790	-2.105	0.03605	T	.	.	0.096	0.15385	B	.	.	1.869017	0.23742	16.13	0.90446764327151541	0.19706	0.04562	0.10204	N	AEFBI	0.040369	0.05994	N	-1.17088378508599	0.05445	0.2482461	-1.01005541610201	0.09564	0.4765148	2.47600338644194E-4	0.06141	0.651	0.46895	0	0.588015	0.36545	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.55	0.068	0.13680	-0.640000	0.05537	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.5083:0.0:0.3135:0.1782	3.298	0.06563	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	77	chr19	56555274	.	A	G	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.636;DP=1212;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.047;SOR=0.671	GT:AD:DP:GQ:PL	0/1:85,96:181:99:2353,0,2179	18	0	1	0
chr19	56578002	56578002	G	A	exonic	ZNF470	.	nonsynonymous SNV	ZNF470:NM_001001668:exon6:c.G1573A:p.A525T	.	404	1098	20	0	0	20	0.00902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00214798118643	0.0009	0.00219649	0.0017	0.0002	0.0007	0	0.0003	0.0008	0.0011	0.0085	0.0015524	240	154602	rs140617949	0.0010	0.0010	0.0007	0.0013	0.0078	0.0009	0.0009	0.0073	0.0071	0	0.0003	0.0005	2.519e-05	0.0002	0.0061	0.0006	0.0007	0.0078	0.0006	0.0007	0.0006	0.0007	0.0090	0.0005	0.0005	0.0068	0.0061	0.0001	0	0.0001	0.0003	0	0	0.0034	0.0006	0.0014	0.0090	0.383	0.11085	T	0.513	0.10714	T	0.176	0.28893	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.28	0.03718	N	3.14	0.07920	T	-0.71	0.20145	N	0.026	0.00571	-0.9535	0.40363	T	0.009	0.03054	T	9	0.0044696033	0.00092	T	0.002148	0.04016	T	0.026	0.05648	.	.	0.136095386433	0.13204	0.006799103990396852	0.00646	0.0146560871021	0.01391	0.289073169231	0.08787	T	4.45E-4	0.00152	T	-0.646788	0.00076	T	-0.696434	0.06023	T	0.000995475247702757	0.00010	T	0.222678	0.02881	T	0.017177837	0.00252	0.034363244	0.02489	0.017177837	0.00252	0.034363244	0.02489	-5.025	0.37110	T	.	.	0.082	0.08948	B	.;.	.;.	1.655126	0.21113	15.06	0.9462897738536632	0.25214	0.00983	0.03743	N	AEFBHCI	0.038617	0.05492	N	-1.02630701277597	0.08061	0.3766292	-0.924446865670989	0.11517	0.5872544	4.08288552470761E-4	0.06860	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	4.37	2.12	0.26372	1.027000	0.29721	.	.	-0.118000	0.14412	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.2087:0.1704:0.6209:0.0	5.554	0.16394	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	914.33	58	chr19	56578002	.	G	A	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=1038;ExcessHet=0;FS=3.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.614;SOR=1.037	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	18	0	1	0
chr19	56664306	56664306	C	T	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.G893A:p.R298H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00832494536151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.725	0.79712	M	1.78	0.25678	T	-4.38	0.77143	D	0.182	0.19728	-0.9973	0.30673	T	0.153	0.48222	T	9	0.25285715	0.42645	T	0.008325	0.22029	T	0.053	0.14996	.	.	0.385417323374	0.38153	0.03325199425924132	0.03273	.	.	0.646269798279	0.59456	T	0.05671	0.30365	T	-0.180614	0.23644	T	-0.497216	0.22636	T	0.973818063735962	0.70250	D	0.953805	0.82399	D	0.27789238	0.50845	0.281197	0.54100	0.27789238	0.50844	0.281197	0.54099	-9.479	0.70728	D	.	.	0.675	0.71929	P	.	.	3.902544	0.56852	23.8	0.99902031714650008	0.97350	0.08332	0.14275	N	AEFDBI	0.124630	0.24077	N	0.0432414436804544	0.43831	2.668	-0.211632967180947	0.31117	1.758067	0.00120997410655314	0.08334	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.12	2.12	0.26372	-0.158000	0.10058	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.0:1.0:0.0:0.0	10.287	0.42753	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	33	chr19	56664306	.	C	T	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.281;DP=1060;ExcessHet=0;FS=54.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=-1.435;SOR=5.668	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1368	18	0	1	0
chr19	56664558	56664558	C	T	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.G641A:p.R214H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00472572507613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.445	0.70938	M	1.78	0.25678	T	-4.48	0.77965	D	0.128	0.12198	-1.0249	0.22116	T	0.155	0.48533	T	9	0.26291147	0.43764	T	0.004726	0.11753	T	0.073	0.21317	.	.	0.38225645794	0.37833	0.04117342378736333	0.04062	.	.	0.661956310272	0.61689	T	0.060495	0.31401	T	-0.201241	0.20626	T	-0.526845	0.19604	T	0.980389297008514	0.73331	D	0.837116	0.50934	T	0.37410736	0.58886	0.3974707	0.64361	0.37410736	0.58887	0.3974707	0.64361	-8.414	0.63858	D	.	.	0.675	0.71941	P	.	.	2.802493	0.36869	20.4	0.99873464405780299	0.95076	0.02058	0.06143	N	AEFDBI	0.077289	0.15567	N	-0.0278538047655972	0.40596	2.413631	-0.297848589078598	0.28169	1.568482	1.99179217371448E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.12	2.12	0.26372	-0.184000	0.09693	.	.	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.217000	0.22379	0.0:1.0:0.0:0.0	10.287	0.42753	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	172.33	33	chr19	56664558	.	C	T	172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=1072;ExcessHet=0;FS=69.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=0.508;QD=1.44;ReadPosRankSum=-0.577;SOR=6.357	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1368	18	0	1	0
chr19	56774905	56774905	C	T	exonic	ZIM2	.	nonsynonymous SNV	ZIM2:NM_001369772:exon11:c.G1367A:p.R456Q,ZIM2:NM_015363:exon11:c.G1367A:p.R456Q,ZIM2:NM_001146326:exon12:c.G1367A:p.R456Q,ZIM2:NM_001146327:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369770:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369771:exon12:c.G1367A:p.R456Q,ZIM2:NM_001369773:exon12:c.G1460A:p.R487Q,ZIM2:NM_001369774:exon12:c.G1460A:p.R487Q	.	.	.	.	.	.	.	.	.	.	.	2344168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0028908180178	0.0002	.	8.241e-05	0.0002	0.0004	0	0	4.497e-05	0	0	9.06e-05	14	154602	rs199721017	6.841e-05	6.84e-05	7.623e-05	6.05e-05	0.0007	5.713e-05	5.326e-05	0.0005	0.0004	0.0004	0.0007	0	0	0	0	4.676e-05	6.623e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	8.17e-05	6.726e-05	0.0001	8.29e-05	0.0002	0	0.0003	0	0	0	0	8.818e-05	0	0	.	.	.	0.011	0.64786	D	0.703	0.41913	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.99	0.53851	M	3.53	0.04852	T	.	.	.	0.112	0.11054	-0.9745	0.36235	T	0.011	0.04134	T	8	0.042983502	0.03101	T	0.002891	0.06104	T	.	.	.	.	0.0401082797425	0.02173	0.026136473209981036	0.02564	.	.	.	.	.	0.260619	0.63202	T	-0.52783	0.00396	T	-0.630669	0.10364	T	0.0721373185515404	0.08947	T	0.570643	0.20320	T	0.027720211	0.02005	0.064211145	0.12837	0.027720211	0.02005	0.064211145	0.12836	-4.569	0.31779	T	.	.	0.178	0.38853	B	.;.;.;.	.;.;.;.	1.796721	0.22840	15.78	0.99563864447007822	0.71953	0.03428	0.08560	N	AEFGI	0.059662	0.11285	N	-0.563912576995788	0.20050	1.054073	-0.676612052503004	0.17546	0.9334545	4.72816216035836E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	-1.37	0.08582	0.193000	0.16921	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.728000	0.35033	0.1471:0.3163:0.2636:0.2731	0.923	0.01235	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2784.33	36	chr19	56774905	.	C	T	2784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=859;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.946;SOR=0.524	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1381	18	0	1	0
chr19	56816853	56816853	C	G	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.G1124C:p.G375A,PEG3:NM_001369736:exon8:c.G1124C:p.G375A,PEG3:NM_001146184:exon9:c.G1589C:p.G530A,PEG3:NM_001146185:exon9:c.G1211C:p.G404A,PEG3:NM_001146187:exon9:c.G1217C:p.G406A,PEG3:NM_001369717:exon9:c.G1595C:p.G532A,PEG3:NM_001369719:exon9:c.G1502C:p.G501A,PEG3:NM_001369721:exon9:c.G1217C:p.G406A,PEG3:NM_001369725:exon9:c.G1217C:p.G406A,PEG3:NM_001369733:exon9:c.G1217C:p.G406A,PEG3:NM_001369734:exon9:c.G1124C:p.G375A,PEG3:NM_001369737:exon9:c.G1124C:p.G375A,PEG3:NM_001369718:exon10:c.G1595C:p.G532A,PEG3:NM_001369722:exon10:c.G1217C:p.G406A,PEG3:NM_001369727:exon10:c.G1217C:p.G406A,PEG3:NM_001369729:exon10:c.G1217C:p.G406A,PEG3:NM_001369730:exon10:c.G1217C:p.G406A,PEG3:NM_001369732:exon10:c.G1217C:p.G406A,PEG3:NM_001369738:exon10:c.G1124C:p.G375A,PEG3:NM_001369739:exon10:c.G1217C:p.G406A,PEG3:NM_006210:exon10:c.G1589C:p.G530A,PEG3:NM_001369723:exon11:c.G1217C:p.G406A,PEG3:NM_001369726:exon11:c.G1217C:p.G406A,PEG3:NM_001369728:exon11:c.G1217C:p.G406A,PEG3:NM_001369731:exon11:c.G1217C:p.G406A,PEG3:NM_001369720:exon12:c.G1217C:p.G406A,PEG3:NM_001369724:exon12:c.G1217C:p.G406A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00232952807901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.016	0.60972	D	0.02	0.18235	B	0.014	0.16862	B	0.153920	0.17877	N	0.470180	.	.	.	-0.345	0.03330	N	4.2	0.03121	T	0.47	0.03090	N	0.071	0.04426	-0.9876	0.33200	T	0.005	0.01651	T	9	0.116607785	0.22001	T	0.00233	0.04507	T	0.011	0.01250	0.581	0.70733	0.40722173914	0.40337	.	.	0.0490915211193	0.05371	0.27234596014	0.06449	T	0.089531	0.38391	T	-0.365448	0.03831	T	-0.762717	0.03016	T	0.142372831702232	0.16477	T	0.715628	0.34112	T	0.04876859	0.08553	0.057931513	0.10618	0.04876859	0.08552	0.057931513	0.10618	-6.227	0.49751	T	.	.	0.091	0.18580	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.160892	0.05513	1.977	0.652010875573661	0.07706	0.13987	0.18161	N	AEFBCI	0.190958	0.31817	N	-1.19965895113861	0.05006	0.2272197	-1.21026931923005	0.05744	0.2745551	0.00648010982395555	0.11227	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.14	0.825	0.17962	0.120000	0.15476	.	.	-0.130000	0.13190	0.006000	0.17386	0.000000	0.08366	0.023000	0.12082	0.0:0.1871:0.1652:0.6478	4.636	0.11908	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2997.33	44	chr19	56816853	.	C	G	2997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=907;ExcessHet=0;FS=4.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.421;SOR=0.986	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1305	18	0	1	0
chr19	56823594	56823594	G	C	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon4:c.C480G:p.F160L,PEG3:NM_001146185:exon4:c.C102G:p.F34L,PEG3:NM_001146187:exon4:c.C102G:p.F34L,PEG3:NM_001369717:exon4:c.C480G:p.F160L,PEG3:NM_001369721:exon4:c.C102G:p.F34L,PEG3:NM_001369725:exon4:c.C102G:p.F34L,PEG3:NM_001369733:exon4:c.C102G:p.F34L,PEG3:NM_001369735:exon4:c.C102G:p.F34L,PEG3:NM_001369736:exon4:c.C102G:p.F34L,ZIM2:NM_001369772:exon4:c.C102G:p.F34L,ZIM2:NM_001369773:exon4:c.C102G:p.F34L,ZIM2:NM_001369774:exon4:c.C102G:p.F34L,ZIM2:NM_015363:exon4:c.C102G:p.F34L,ZIM2:NM_001146326:exon5:c.C102G:p.F34L,ZIM2:NM_001146327:exon5:c.C102G:p.F34L,PEG3:NM_001369718:exon5:c.C480G:p.F160L,PEG3:NM_001369719:exon5:c.C480G:p.F160L,PEG3:NM_001369722:exon5:c.C102G:p.F34L,PEG3:NM_001369727:exon5:c.C102G:p.F34L,PEG3:NM_001369729:exon5:c.C102G:p.F34L,PEG3:NM_001369730:exon5:c.C102G:p.F34L,PEG3:NM_001369732:exon5:c.C102G:p.F34L,PEG3:NM_001369734:exon5:c.C102G:p.F34L,PEG3:NM_001369737:exon5:c.C102G:p.F34L,PEG3:NM_001369739:exon5:c.C102G:p.F34L,ZIM2:NM_001369770:exon5:c.C102G:p.F34L,ZIM2:NM_001369771:exon5:c.C102G:p.F34L,PEG3:NM_006210:exon5:c.C480G:p.F160L,PEG3:NM_001369723:exon6:c.C102G:p.F34L,PEG3:NM_001369726:exon6:c.C102G:p.F34L,PEG3:NM_001369728:exon6:c.C102G:p.F34L,PEG3:NM_001369731:exon6:c.C102G:p.F34L,PEG3:NM_001369738:exon6:c.C102G:p.F34L,PEG3:NM_001369720:exon7:c.C102G:p.F34L,PEG3:NM_001369724:exon7:c.C102G:p.F34L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00386900735897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.0	0.92824	D	0.028	0.19712	B	0.01	0.14941	B	0.024541	0.26246	N	0.275691	.	.	.	1.445	0.36358	L	3.14	0.07920	T	-0.7	0.19933	N	0.289	0.33140	-0.9869	0.33371	T	0.012	0.04416	T	9	0.06813848	0.09594	T	0.003869	0.09086	T	0.043	0.11576	0.276	0.22845	0.0297737177859	0.01360	0.0014999135316746048	0.00138	0.0523284551214	0.05754	0.452203184366	0.32245	T	0.129825	0.45835	T	-0.238149	0.15586	T	-0.579861	0.14557	T	0.159759715199471	0.17854	T	0.532847	0.17735	T	0.054049272	0.12811	0.08230502	0.18774	0.054049272	0.12811	0.08230502	0.18773	-2.99	0.15917	T	.	.	0.833	0.81959	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.847433	0.12193	8.740	0.9914143449529037	0.53546	0.15594	0.18988	N	AEFBHCI	0.102805	0.20613	N	-0.982224295744142	0.08983	0.4233284	-0.972009136674972	0.10417	0.5245115	0.322177903739811	0.19395	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.29	2.1	0.26226	0.481000	0.21969	.	.	0.676000	0.76740	0.000000	0.06391	0.490000	0.25148	0.051000	0.15275	0.2099:0.0:0.7901:0.0	6.956	0.23754	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1577.33	34	chr19	56823594	.	G	C	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.463;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.255;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr19	56823607	56823607	G	A	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon4:c.C467T:p.S156L,PEG3:NM_001146185:exon4:c.C89T:p.S30L,PEG3:NM_001146187:exon4:c.C89T:p.S30L,PEG3:NM_001369717:exon4:c.C467T:p.S156L,PEG3:NM_001369721:exon4:c.C89T:p.S30L,PEG3:NM_001369725:exon4:c.C89T:p.S30L,PEG3:NM_001369733:exon4:c.C89T:p.S30L,PEG3:NM_001369735:exon4:c.C89T:p.S30L,PEG3:NM_001369736:exon4:c.C89T:p.S30L,ZIM2:NM_001369772:exon4:c.C89T:p.S30L,ZIM2:NM_001369773:exon4:c.C89T:p.S30L,ZIM2:NM_001369774:exon4:c.C89T:p.S30L,ZIM2:NM_015363:exon4:c.C89T:p.S30L,ZIM2:NM_001146326:exon5:c.C89T:p.S30L,ZIM2:NM_001146327:exon5:c.C89T:p.S30L,PEG3:NM_001369718:exon5:c.C467T:p.S156L,PEG3:NM_001369719:exon5:c.C467T:p.S156L,PEG3:NM_001369722:exon5:c.C89T:p.S30L,PEG3:NM_001369727:exon5:c.C89T:p.S30L,PEG3:NM_001369729:exon5:c.C89T:p.S30L,PEG3:NM_001369730:exon5:c.C89T:p.S30L,PEG3:NM_001369732:exon5:c.C89T:p.S30L,PEG3:NM_001369734:exon5:c.C89T:p.S30L,PEG3:NM_001369737:exon5:c.C89T:p.S30L,PEG3:NM_001369739:exon5:c.C89T:p.S30L,ZIM2:NM_001369770:exon5:c.C89T:p.S30L,ZIM2:NM_001369771:exon5:c.C89T:p.S30L,PEG3:NM_006210:exon5:c.C467T:p.S156L,PEG3:NM_001369723:exon6:c.C89T:p.S30L,PEG3:NM_001369726:exon6:c.C89T:p.S30L,PEG3:NM_001369728:exon6:c.C89T:p.S30L,PEG3:NM_001369731:exon6:c.C89T:p.S30L,PEG3:NM_001369738:exon6:c.C89T:p.S30L,PEG3:NM_001369720:exon7:c.C89T:p.S30L,PEG3:NM_001369724:exon7:c.C89T:p.S30L	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00624498087809	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs755484455	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.439e-05	4.967e-05	0	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.02	0.58613	D	0.421	0.35387	B	0.058	0.26451	B	0.789228	0.06702	N	1.122580	.	.	.	0.895	0.22405	L	3.42	0.05507	T	-1.1	0.28497	N	0.298	0.36569	-1.0234	0.22606	T	0.015	0.05897	T	9	0.09253797	0.16302	T	0.006245	0.16376	T	0.073	0.21317	.	.	0.0884992946249	0.08302	0.0027620288402368035	0.00257	0.0489332366469	0.05346	0.349157214165	0.17798	T	0.104175	0.42404	T	-0.408109	0.02047	T	-0.608662	0.12094	T	0.468045651912689	0.31459	T	0.817418	0.47426	T	0.06017957	0.12318	0.08917603	0.20839	0.06017957	0.12317	0.08917603	0.20839	-3.835	0.38830	T	.	.	0.164	0.40714	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.093919	0.41671	21.4	0.99276347544814814	0.57730	0.25664	0.22766	N	AEFBHCI	0.155510	0.28072	N	-0.768594393973373	0.14133	0.7015874	-0.785991541153489	0.14838	0.7774134	0.699630771453608	0.22683	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.29	3.24	0.36257	3.557000	0.53487	.	.	0.676000	0.76740	0.036000	0.20778	0.999000	0.35428	0.003000	0.05239	0.0:0.0:0.7924:0.2076	9.651	0.39062	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1456.33	34	chr19	56823607	.	G	A	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.938;DP=798;ExcessHet=0;FS=1.373;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.223;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	18	0	1	0
chr19	56824507	56824507	C	T	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001146184:exon3:c.G149A:p.R50Q,PEG3:NM_001369717:exon3:c.G149A:p.R50Q,PEG3:NM_001369718:exon4:c.G149A:p.R50Q,PEG3:NM_001369719:exon4:c.G149A:p.R50Q,PEG3:NM_006210:exon4:c.G149A:p.R50Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00324195194774	7.7e-05	0.00179712	0.0004	9.614e-05	0	0.0038	0	0.0001	0	0.0007	0.000414	64	154602	rs117930727	0.0005	0.0005	0.0005	0.0005	0.0124	0.0004	0.0004	0.0115	0.0111	2.987e-05	2.236e-05	0.0010	0.0124	0	0.0003	7.914e-05	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0080	0.0003	0.0002	0.0060	0.0054	2.408e-05	0	0.0001	0.0009	0.0080	0	0	4.41e-05	0	0.0004	0.073	0.34800	T	0.0	0.92824	D	0.086	0.24919	B	0.017	0.18140	B	0.037504	0.24394	N	0.206490	.	.	.	2.41	0.69639	M	3.18	0.07478	T	-0.77	0.21429	N	0.534	0.56231	-1.0984	0.04290	T	0.022	0.09559	T	9	0.010417908	0.00232	T	0.003242	0.07147	T	0.155	0.40530	.	.	0.641104024009	0.63814	.	.	0.129522306516	0.14600	0.237110957503	0.02536	T	0.213535	0.57488	T	-0.498336	0.00584	T	-0.486959	0.23710	T	0.0323472719023849	0.02362	T	0.610839	0.23175	T	0.14285591	0.32858	0.12095921	0.29188	0.14285591	0.32858	0.12095921	0.29188	-7.305	0.56231	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	3.558013	0.50049	22.9	0.99900515884394492	0.97275	0.61950	0.31635	D	AEFDBCI	0.366525	0.45431	N	-0.0474406697259061	0.39717	2.346671	0.0263103602980623	0.40939	2.451433	0.142707853183081	0.17303	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.88	3.85	0.43556	1.854000	0.39008	.	.	-0.177000	0.10537	0.369000	0.25916	0.796000	0.26906	0.971000	0.54645	0.0:0.9007:0.0:0.0993	9.612	0.38833	975	0.05339	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001037	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3186.83	33	chr19	56824507	.	C	T	3186.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=804;ExcessHet=0.119;FS=1.712;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.078;SOR=0.846	GT:AD:DP:GQ:PL	0/1:47,67:114:99:1971,0,1070	17	0	2	0
chr19	57130072	57130072	C	G	exonic	USP29	.	nonsynonymous SNV	USP29:NM_020903:exon4:c.C1397G:p.P466R	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00401965780093	0.0002	0.000199681	0.0004	0	0.0004	0	0	0.0005	0.0011	0.0002	0.0003558	55	154602	rs137993626	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0003	0.0003	0.0028	0	0.0001	0.0045	0.0002	0.0006	0.0002	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0001	0.0032	0	0	0.0102	0.0003	0	0.0002	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.995	0.83170	D	0.790253	0.09402	U	0.860501	1	0.08975	N	1.15	0.29295	L	0.68	0.51952	T	-6.2	0.90371	D	0.197	0.21710	-0.8722	0.50364	T	0.267	0.63887	T	10	0.01971358	0.00444	T	0.00402	0.09556	T	0.154	0.40340	.	.	0.68085904921	0.67814	0.12330900992238837	0.12256	0.19388941855	0.21726	0.32505145669	0.14186	T	0.023607	0.17990	T	-0.393816	0.02541	T	-0.491087	0.23277	T	0.178761746818713	0.19157	T	0.372463	0.08834	T	0.2704909	0.50121	0.4116772	0.65392	0.2704909	0.50120	0.4116772	0.65392	-6.422	0.49681	T	.	.	0.152	0.35267	B	.;.	.;.	2.314794	0.29634	18.19	0.99568544827047356	0.72258	0.06963	0.12990	N	AEFBI	0.030620	0.03118	N	-0.0501051249304243	0.39597	2.337711	-0.320258794886277	0.27445	1.52294	7.28932456923628E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.33	2.33	0.27981	0.470000	0.21795	.	.	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	10.753	0.45421	952	0.10565	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.009511	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1706.33	97	chr19	57130072	.	C	G	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.681;DP=1892;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.096;SOR=0.542	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	18	0	1	0
chr19	57254468	57254468	G	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.G1250A:p.R417H,ZNF805:NM_001023563:exon4:c.G1649A:p.R550H	.	.	.	.	.	.	.	.	.	.	.	2220126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0018099910988	0.0002	.	3.297e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs372060986	7.593e-05	7.593e-05	8.984e-05	6.188e-05	9.083e-05	6.423e-05	6.004e-05	7.597e-05	7.086e-05	5.974e-05	0	0	2.519e-05	1.872e-05	0	9.083e-05	4.967e-05	3.478e-05	5.914e-05	5.91e-05	5.138e-05	6.727e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.153	0.24372	T	0.234	0.24840	T	0.998	0.73220	D	0.913	0.64886	D	0.750758	0.06483	N	1.142240	0.999683	0.20694	N	0.105	0.08473	N	2.25	0.17761	T	-1.99	0.45949	N	0.176	0.24758	-1.0436	0.16236	T	0.067	0.27537	T	10	0.13781399	0.26214	T	0.00181	0.03115	T	0.155	0.40530	.	.	0.187035705434	0.18338	0.05148726759072695	0.05090	0.359438089845	0.37635	0.620201945305	0.55757	T	0.002764	0.02156	T	-0.354424	0.04455	T	-0.52118	0.20175	T	0.223428055644035	0.21634	T	0.0247975	0.00150	T	0.08670677	0.20163	0.07493356	0.16445	0.08670677	0.20162	0.07493356	0.16444	-4.541	0.34392	T	.	.	0.511	0.70872	A	.;.	.;.	3.420720	0.47492	22.5	0.99864476283632941	0.94276	0.18428	0.20256	N	AEFBCI	0.031971	0.03522	N	0.171016307606661	0.49810	3.177448	0.131596062715107	0.46174	2.86775	0.00191906458950274	0.09002	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.62	4.62	0.56946	0.036000	0.13706	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.1688:0.6569:0.1743	8.242	0.30827	940	0.13648	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	3324.33	39	chr19	57254468	.	G	A	3324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=901;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=0.833;SOR=0.782	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr19	57328811	57328811	C	T	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.C1349T:p.P450L	.	399	1122	1	0	0	1	0.000445434	.	.	.	3361063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0101204322762	.	.	9.061e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs763438077	3.215e-05	3.215e-05	2.042e-05	4.4e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.979339	0.39551	D	1.71	0.44315	L	1.66	0.27486	T	-9.12	0.98193	D	0.412	0.45237	-0.7938	0.55508	T	0.158	0.49094	T	9	0.17806807	0.32873	T	0.01012	0.26280	T	0.178	0.44724	0.464	0.53404	0.559923220125	0.55653	0.01934667843888138	0.01888	0.270430449395	0.29564	0.492611050606	0.37801	T	0.092108	0.38935	T	-0.347576	0.04881	T	-0.372883	0.36551	T	0.903429746627808	0.55663	D	0.0749925	0.00549	T	0.5731859	0.71235	0.61810297	0.77762	0.5731859	0.71236	0.61810297	0.77763	-6.525	0.50479	T	.	.	0.795	0.77034	P	.	.	4.349856	0.66808	25.0	0.9968654091585788	0.79641	0.61218	0.31420	D	AEFDGBCI	0.099307	0.19993	N	0.279585509093437	0.55115	3.675802	0.138199137595287	0.46520	2.89667	0.759439069074989	0.23486	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.0	3.0	0.33773	3.549000	0.53431	.	.	0.524000	0.24156	0.947000	0.32937	0.000000	0.08366	0.993000	0.69303	0.0:1.0:0.0:0.0	13.193	0.59145	545	0.72614	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2102.33	42	chr19	57328811	.	C	T	2102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=1155;ExcessHet=0;FS=1.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.468;SOR=0.562	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	18	0	1	0
chr19	57399557	57399557	A	G	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.A1270G:p.S424G,ZNF548:NM_001172773:exon4:c.A1306G:p.S436G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00349131566491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.20154	T	0.253	0.25514	T	0.625	0.40054	P	0.246	0.38861	B	.	.	.	.	1	0.08975	N	1.065	0.27018	L	3.17	0.07599	T	-2.9	0.60982	D	0.164	0.18239	-0.9618	0.38839	T	0.012	0.04795	T	9	0.06829235	0.09639	T	0.003491	0.07908	T	0.020	0.03691	0.248	0.18447	0.188950314367	0.18478	0.048729989757379986	0.04815	0.482082507324	0.47176	0.296000212431	0.09807	T	0.043098	0.26392	T	-0.289633	0.09673	T	-0.653814	0.08688	T	0.274709025998121	0.23948	T	0.0725927	0.00551	T	0.1032575	0.24405	0.122188956	0.29475	0.1032575	0.24405	0.122188956	0.29475	-6.46	0.49976	T	.	.	0.098	0.16319	B	.;.	.;.	1.808664	0.22987	15.84	0.96991868652993074	0.31904	0.06724	0.12745	N	AEFGBCI	0.101690	0.20418	N	-0.817768229387102	0.12856	0.6294358	-0.905032807136617	0.11975	0.6133331	0.173154589512114	0.17765	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.2	1.14	0.19817	-3.047000	0.00692	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.373:0.4207:0.0:0.2063	3.993	0.09035	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1375.33	42	chr19	57399557	.	A	G	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=852;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.409;SOR=0.52	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	57456397	57456397	A	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.T90G:p.N30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00305673777914	0.0002	0.000199681	5.789e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs202011839	8.075e-05	8.072e-05	9.258e-05	6.88e-05	9.717e-05	6.871e-05	6.423e-05	8.216e-05	7.636e-05	2.988e-05	2.237e-05	0	0	0	0	9.717e-05	0.0001	0	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0001	2.107e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	-0.09	0.08340	N	0.057	0.02861	-0.9958	0.31082	T	0.027	0.11441	T	9	0.031712174	0.01310	T	0.003057	0.06606	T	0.030	0.07022	0.261	0.20473	0.115124310173	0.11017	0.05474918498198184	0.05415	0.0941732856784	0.10632	0.559492468834	0.47196	T	0.002183	0.01585	T	-0.515683	0.00466	T	-0.741851	0.03813	T	0.0258605517278639	0.01387	T	0.312169	0.06100	T	0.039108053	0.05337	0.036647364	0.03155	0.039108053	0.05336	0.036647364	0.03154	-2.774	0.07946	T	.	.	0.093	0.14108	B	.	.	0.442321	0.08122	4.855	0.094203104805069479	0.00096	0.00971	0.03712	N	AEFBI	.	.	.	-1.69263061456464	0.00868	0.03756862	-1.75284994996098	0.00922	0.04127945	7.8935581188912E-4	0.07810	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.55	-5.76	0.02183	-0.434000	0.07009	.	.	-1.270000	0.01281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1572:0.1333:0.1394:0.5701	2.246	0.03785	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	997.33	37	chr19	57456397	.	A	C	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=750;ExcessHet=0;FS=4.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.642;SOR=0.633	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.05263	1939.83	38	chr19	57474334	.	C	A	1939.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.718;DP=831;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.429;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	17	0	2	0
chr19	57506358	57506358	G	A	exonic	ZNF773	.	nonsynonymous SNV	ZNF773:NM_001304334:exon4:c.G260A:p.G87D,ZNF773:NM_198542:exon4:c.G263A:p.G88D	.	427	1093	2	0	0	2	0.000914077	0.0005	0.12	.	3949290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0017366247355	.	.	8.54e-06	0	0	0	0	0	0	7.262e-05	6.5e-06	1	154602	rs767450098	4.141e-05	4.104e-05	4.119e-05	4.162e-05	9.466e-05	3.273e-05	2.945e-05	4.66e-05	3.431e-05	3.074e-05	2.426e-05	0	2.523e-05	0	0	4.424e-05	0	9.466e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.353	0.12187	T	0.48	0.13441	T	0.973	0.61523	D	0.791	0.57754	P	.	.	.	.	0.998986	0.21738	N	2.27	0.64531	M	3.34	0.06063	T	0.28	0.04233	N	0.232	0.26111	-1.0209	0.23421	T	0.027	0.11485	T	8	0.1651817	0.30882	T	0.001737	0.02934	T	0.036	0.09122	0.418	0.45873	0.488266720666	0.48458	0.0764676486864788	0.07582	0.341655650433	0.36107	0.290213406086	0.08953	T	0.003435	0.02839	T	-0.384022	0.02938	T	-0.541089	0.18189	T	0.110712732721492	0.13497	T	0.165783	0.01535	T	0.067503415	0.14625	0.085357025	0.19702	0.067503415	0.14624	0.085357025	0.19702	-5.627	0.43039	T	.	.	0.120	0.24666	B	.;.	.;.	2.581841	0.33479	19.35	0.96348313334883862	0.29506	0.08103	0.14072	N	AEFDBI	0.036215	0.04789	N	-0.485571324871355	0.22553	1.205046	-0.763757570055485	0.15385	0.8088664	0.0103067303582513	0.12002	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.25	0.115	0.13949	2.243000	0.42765	.	.	0.363000	0.20128	0.795000	0.29657	0.927000	0.28453	0.200000	0.21896	0.0:0.0:0.7147:0.2853	6.524	0.21488	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	35	chr19	57506358	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=754;ExcessHet=0;FS=3.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.767;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	18	0	1	0
chr19	57701723	57701723	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G1226A:p.G409E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0202073957365	7.7e-05	.	0.0004	0	8.64e-05	0	0.0002	0.0002	0.0011	0.0018	0.0002781	43	154602	rs200045380	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0002	0.0014	0.0014	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0014	0.0002	0.0001	0.0017	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	6.533e-05	0.0003	0	0	0.0034	0.0003	0.0005	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.740766	0.29737	N	1.975	0.53506	M	4.74	0.01604	T	-7.42	0.94814	D	0.353	0.39457	-1.1466	0.01130	T	0.021	0.08686	T	9	0.05032745	0.04748	T	0.020207	0.42757	T	0.085	0.24743	.	.	0.467501455318	0.46379	0.05458934458496622	0.05400	0.561225617221	0.52626	0.472633779049	0.35043	T	0.051971	0.29028	T	-0.422674	0.01645	T	-0.386702	0.34939	T	0.268547485065674	0.23685	T	.	.	.	0.6805128	0.76997	0.6098999	0.77309	0.6805128	0.76998	0.6098999	0.77310	-9.169	0.68778	D	.	.	0.885	0.81789	P	.	.	2.737218	0.35844	20.0	0.99684453000077045	0.79507	0.73512	0.35958	D	AEFDBHCI	0.323209	0.42547	N	0.375228211808428	0.60081	4.193425	0.240122464517026	0.52091	3.386222	0.100950631539283	0.16366	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.99	2.99	0.33673	1.546000	0.35787	.	.	0.444000	0.21144	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	12.174	0.53482	976	0.04745	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1720.33	33	chr19	57701723	.	C	T	1720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.201;DP=790;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.55;SOR=0.806	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1375	18	0	1	0
chr19	57779687	57779687	A	T	exonic	ZNF586	.	nonsynonymous SNV	ZNF586:NM_017652:exon3:c.A1100T:p.H367L,ZNF586:NM_001204814:exon4:c.A971T:p.H324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0114083972461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.673134	0.81001	D	2.46	0.71463	M	-0.26	0.67187	T	-10.83	0.99288	D	0.552	0.57775	0.174	0.85466	D	0.533	0.82699	D	9	0.8595356	0.85167	D	0.011408	0.29007	T	0.375	0.69358	0.778	0.90312	0.731511515365	0.72912	0.20900239789514696	0.20816	0.482193756894	0.47184	0.63813149929	0.58298	T	0.240743	0.60913	T	0.0540259	0.58859	T	-0.160172	0.58337	T	0.997164785861969	0.90916	D	0.618838	0.23746	T	0.74558455	0.80613	0.5875887	0.76078	0.74558455	0.80614	0.5875887	0.76079	-11.864	0.86546	D	.	.	0.833	0.82567	P	.;.	.;.	3.396649	0.47056	22.4	0.97124577688054514	0.32469	0.85277	0.44396	D	AEFBHCI	0.503296	0.53534	D	0.42366687521328	0.62727	4.493356	0.177203466529373	0.48600	3.073806	0.825070642129634	0.24592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	1.65	0.23015	3.610000	0.53874	.	.	0.756000	0.94297	0.994000	0.38300	0.008000	0.19753	0.826000	0.38927	1.0:0.0:0.0:0.0	8.116	0.30100	970	0.06235	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2316.33	33	chr19	57779687	.	A	T	2316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=863;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.38;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1284	18	0	1	0
chr19	57860088	57860088	G	A	exonic	ZNF587	.	nonsynonymous SNV	ZNF587:NM_001204817:exon3:c.G1673A:p.R558Q,ZNF587:NM_032828:exon3:c.G1676A:p.R559Q	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0085	0.00279553	0.0068	0.0017	0.0041	0	0.0051	0.0105	0.0055	0.0010	0.0067593	1045	154602	rs141258730	0.0090	0.0090	0.0091	0.0089	0.0105	0.0089	0.0088	0.0103	0.0103	0.0015	0.0055	0.0060	0	0.0080	0.0029	0.0105	0.0078	0.0013	0.0079	0.0078	0.0078	0.0079	0.0128	0.0075	0.0073	0.0121	0.0118	0.0018	0.0220	0.0086	0.0040	0	0.0047	0.0034	0.0128	0.0119	0.0012	0.975	0.03857	T	1.0	0.01155	T	0.173	0.28803	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.185	0.30054	L	0.19	0.60236	T	-0.31	0.12283	N	0.03	0.01004	-0.9607	0.39050	T	0.049	0.20829	T	8	0.0064335763	0.00146	T	.	.	.	0.068	0.19811	.	.	0.528561964389	0.52502	0.0074295419481271024	0.00708	1.44232531229	0.86002	0.248559087515	0.03618	T	6.1E-5	0.00005	T	-0.658986	0.00064	T	-0.705738	0.05518	T	0.0109316608930513	0.00157	T	0.843516	0.52087	T	0.013406869	0.00058	0.022288222	0.00256	0.013406869	0.00058	0.022288222	0.00256	-4.146	0.25966	T	.	.	0.290	0.52210	B	.;.;.	.;.;.	-0.391475	0.02244	0.229	0.15734712641667234	0.00396	0.00480	0.02286	N	AEFBCI	.	.	.	-1.19387700584909	0.05092	0.2313281	-1.27724129995446	0.04740	0.2242704	6.58607996502604E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	1.37	0.276	0.14916	-3.625000	0.00460	.	.	-0.544000	0.04925	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4036:0.0:0.5964:0.0	5.388	0.15529	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs141258730	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006342	0.000000	0.001359	0.008197	0.000000	0.008621	0.021341	0.003788	0.02632	1740.33	33	chr19	57860088	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=837;ExcessHet=0;FS=4.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.05;MQRankSum=-0.777;QD=15;ReadPosRankSum=0.556;SOR=1.149	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr19	57874012	57874012	C	T	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.G1378A:p.G460R	.	435	1086	1	0	0	1	0.000460193	.	.	.	2336968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00625869876479	0.0007	0.000399361	0.0006	0.0003	0.0007	0.0001	0.0002	0.0006	0	0.0013	0.000511	79	154602	rs374673273	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0003	0.0005	0	5.045e-05	1.873e-05	0.0023	0.0006	0.0005	0.0009	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0010	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0010	0.0019	0.0014	0.044	0.41096	D	0.017	0.60337	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.998937	0.21783	N	2.105	0.58435	M	2.08	0.20255	T	-5.47	0.85617	D	0.151	0.15469	-1.0652	0.10502	T	0.110	0.39675	T	9	0.04143551	0.02799	T	0.006259	0.16435	T	0.079	0.23065	0.392	0.41606	0.415947407303	0.41207	0.006756771830456643	0.00642	0.204904108503	0.22910	0.400882065296	0.25191	T	0.235361	0.60260	T	-0.462649	0.00946	T	-0.48778	0.23623	T	0.0896868369934159	0.11180	T	0.665633	0.27494	T	0.17135218	0.37764	0.23438743	0.48654	0.17135218	0.37763	0.23438743	0.48653	-5.259	0.39536	T	.	.	0.432	0.61280	A	.	.	1.301308	0.17030	12.92	0.91863523700817329	0.21178	0.28267	0.23507	N	AEFDBCI	0.103650	0.20761	N	-0.0716193249416549	0.38640	2.266281	-0.320217882423704	0.27446	1.523022	0.970431621332855	0.29207	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.592323	0.36904	0	.	.	1.88	1.88	0.24630	1.212000	0.31999	.	.	0.310000	0.19122	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	10.771	0.45521	982	0.03397	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2936.33	74	chr19	57874012	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1358;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.74;SOR=0.786	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr19	57874346	57874346	T	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.A1044C:p.E348D	.	428	1091	2	0	1	3	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000842017374802	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1170651881	1.178e-05	1.71e-05	8.265e-06	1.535e-05	0.0002	7.18e-06	5.87e-06	5.81e-06	4.59e-06	0	2.39e-05	0	2.569e-05	1.907e-05	0.0002	1.089e-05	0	1.19e-05	6.585e-05	0.0001	6.438e-05	6.74e-05	0.0002	3.524e-05	2.622e-05	3.254e-05	1.918e-05	9.671e-05	0	6.558e-05	0	0.0002	0.0002	0	2.943e-05	0	0	0.046	0.40573	D	0.003	0.76473	D	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999954	0.19072	N	0.99	0.25021	L	2.21	0.18414	T	0.26	0.04380	N	0.091	0.06990	-0.9971	0.30728	T	0.023	0.09923	T	9	0.053892136	0.05653	T	8.42E-4	0.00713	T	0.019	0.03383	0.479	0.55823	0.0482279557977	0.04254	0.004196378476831598	0.00393	0.0281334713111	0.02891	0.329949259758	0.14926	T	0.019974	0.15809	T	-0.383135	0.02976	T	-0.788123	0.02216	T	0.0824611163883359	0.10300	T	0.0463954	0.00329	T	0.056400675	0.11092	0.050185557	0.07825	0.056400675	0.11092	0.050185557	0.07825	-0.6	0.00648	T	.	.	0.322	0.54631	B	.	.	0.931693	0.13072	9.573	0.97490465022443085	0.34240	0.17345	0.19797	N	AEBHCI	0.135837	0.25630	N	-1.1335400649987	0.06055	0.2777207	-1.18340189432112	0.06186	0.2970036	1.52089203290548E-4	0.05650	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	2.01	0.932	0.18591	-1.172000	0.03220	.	.	-0.571000	0.04782	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.152:0.0:0.848	5.802	0.17682	982	0.03397	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2349.33	74	chr19	57874346	.	T	G	2349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=1595;ExcessHet=0;FS=8.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.14;MQRankSum=2.21;QD=6.45;ReadPosRankSum=4.52;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800:.	18	0	1	0
chr19	57875094	57875094	G	A	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.C296T:p.P99L	.	450	1071	1	0	0	1	0.000466636	.	.	.	2453272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00161442144166	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs565491690	3.869e-05	4.173e-05	2.642e-05	5.124e-05	0.0002	3.043e-05	2.731e-05	5.684e-05	4.25e-05	0.0001	0.0001	0	2.563e-05	0	0.0002	2.664e-05	0.0001	0.0001	5.973e-05	6.571e-05	6.485e-05	5.437e-05	0.0002	3.105e-05	2.23e-05	6.339e-05	4.337e-05	0.0001	0	6.645e-05	0	0	0	0	1.478e-05	0	0.0002	0.195	0.20759	T	0.138	0.33780	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.015	0.05111	N	4.84	0.01481	T	-4.93	0.81755	D	0.099	0.18649	-0.9262	0.44688	T	0.004	0.01435	T	9	0.064338446	0.08517	T	0.001614	0.02600	T	0.016	0.02506	0.537	0.64730	0.0920862733494	0.08535	0.04915719478850073	0.04858	0.0585279226959	0.06489	0.231437221169	0.02076	T	0.184822	0.53759	T	-0.481994	0.00720	T	-0.660828	0.08211	T	0.044476013593631	0.04506	T	0.0675932	0.00623	T	0.06098703	0.12576	0.075655356	0.16678	0.06098703	0.12576	0.075655356	0.16678	-1.531	0.01829	T	.	.	0.124	0.37727	B	.;.	.;.	0.329865	0.07040	3.602	0.95753851217935193	0.27731	0.00240	0.01331	N	AEFBI	0.046728	0.07791	N	-1.2879703959417	0.03819	0.1712997	-1.38878846708122	0.03370	0.1570831	2.0440414048226E-4	0.05948	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	2.49	-2.6	0.05830	-1.959000	0.01609	.	.	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5343:0.0:0.4657:0.0	6.368	0.20672	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1106.33	60	chr19	57875094	.	G	A	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.51;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.56;MQRankSum=-1.166;QD=18.44;ReadPosRankSum=-0.357;SOR=0.985	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	57908953	57908953	-	CACATTCCCTACAATTGTAAGGTCTTTCCCCAGTGTGAAGTCT	exonic	ZNF417	.	stopgain	ZNF417:NM_001297734:exon3:c.1321_1322insAGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTG:p.G441Efs*12,ZNF417:NM_152475:exon3:c.1324_1325insAGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTG:p.G442Efs*12	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0004	0.0004	0	0.0009	0.0023	0	0.0013	0.0002689	7	26028	rs761221912	0.0036	0.0037	0.0037	0.0035	0.0042	0.0035	0.0035	0.0041	0.0041	0.0005	0.0005	0.0005	0	0.0013	0.0010	0.0042	0.0037	0.0025	0.0016	0.0019	0.0019	0.0013	0.0030	0.0014	0.0014	0.0027	0.0025	0.0004	0	0.0004	0.0009	0	0.0008	0	0.0030	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1311.29	34	chr19	57908953	.	C	CCACATTCCCTACAATTGTAAGGTCTTTCCCCAGTGTGAAGTCT	1311.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.555;DP=2486;ExcessHet=0;FS=12.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.69;MQRankSum=0.368;QD=17.03;ReadPosRankSum=1.21;SOR=1.544	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	18	0	1	0
chr19	57926277	57926278	GT	-	exonic	ZNF418	.	stopgain	ZNF418:NM_001317030:exon2:c.1648_1649del:p.T550*,ZNF418:NM_133460:exon4:c.1903_1904del:p.T635*,ZNF418:NM_001317027:exon5:c.1966_1967del:p.T656*,ZNF418:NM_001317028:exon5:c.1906_1907del:p.T636*,ZNF418:NM_001317029:exon5:c.1903_1904del:p.T635*	.	427	1074	15	0	6	21	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0011	0.0101	0	0.0082	0.0130	0.0044	0.0019	0.0007684	20	26028	rs750922476	0.0017	0.0076	0.0017	0.0018	0.0040	0.0017	0.0017	0.0028	0.0023	0.0004	0.0008	0.0059	0	0.0028	0.0040	0.0018	0.0023	0.0001	0.0061	0.0089	0.0064	0.0057	0.0095	0.0057	0.0056	0.0089	0.0086	0.0011	0.0099	0.0052	0.0208	0	0.0048	0.0034	0.0095	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	877.29	35	chr19	57926276	.	AGT	A	877.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-3.112;QD=6.96;ReadPosRankSum=-4.226;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57926279	57926279	-	GG	exonic	ZNF418	.	frameshift insertion	ZNF418:NM_001317030:exon2:c.1646_1647insCC:p.T550Lfs*53,ZNF418:NM_133460:exon4:c.1901_1902insCC:p.T635Lfs*53,ZNF418:NM_001317027:exon5:c.1964_1965insCC:p.T656Lfs*53,ZNF418:NM_001317028:exon5:c.1904_1905insCC:p.T636Lfs*53,ZNF418:NM_001317029:exon5:c.1901_1902insCC:p.T635Lfs*53	.	428	1073	15	0	6	21	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0011	0.0095	0	0.0073	0.0123	0.0044	0.0018	0.0007684	20	26028	rs756712461	0.0016	0.0063	0.0015	0.0016	0.0040	0.0015	0.0015	0.0028	0.0023	0.0003	0.0008	0.0056	0	0.0025	0.0040	0.0016	0.0020	6.986e-05	0.0061	0.0089	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0011	0.0090	0.0052	0.0213	0	0.0048	0.0036	0.0094	0.0078	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	795.29	35	chr19	57926279	.	A	AGG	795.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.21;DP=738;ExcessHet=0;FS=1.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=-3.309;QD=6.63;ReadPosRankSum=-3.782;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57926286	57926286	A	G	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.T1640C:p.F547S,ZNF418:NM_133460:exon4:c.T1895C:p.F632S,ZNF418:NM_001317027:exon5:c.T1958C:p.F653S,ZNF418:NM_001317028:exon5:c.T1898C:p.F633S,ZNF418:NM_001317029:exon5:c.T1895C:p.F632S	.	429	1077	15	0	1	16	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00139176472516	.	.	0.0011	0.0002	0.0009	0	0.0002	0.0018	0.0011	0.0001	0.0001153	3	26028	rs754856969	0.0007	0.0022	0.0007	0.0007	0.0019	0.0007	0.0006	0.0011	0.0008	0.0002	0.0005	0.0037	0	0.0012	0.0019	0.0007	0.0011	0	0.0043	0.0078	0.0044	0.0041	0.0065	0.0040	0.0039	0.0060	0.0058	0.0007	0.0046	0.0040	0.0167	0	0.0034	0	0.0065	0.0058	0.0009	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	3.21	0.07125	T	2.33	0.00281	N	0.135	0.13626	-0.9701	0.37179	T	0.004	0.01192	T	9	0.007198304	0.00164	T	0.001392	0.02037	T	0.037	0.09474	.	.	0.0551355673512	0.04727	0.01625044036325455	0.01581	0.0377257243875	0.04003	0.367868036032	0.20526	T	0.001518	0.00960	T	-0.317262	0.07125	T	-0.693502	0.06189	T	0.0285097912318382	0.01763	T	0.546745	0.18722	T	0.02994329	0.02572	0.07247944	0.15643	0.02994329	0.02571	0.07247944	0.15643	0.193	0.00287	T	.	.	0.170	0.37858	B	.;.;.;.;.	.;.;.;.;.	-0.728011	0.01257	0.065	0.19729777939393434	0.00679	0.00146	0.00887	N	AEFBI	0.037813	0.05257	N	-1.85953321941803	0.00415	0.01785339	-1.83605549207893	0.00650	0.02892496	0.00254255846094499	0.09519	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.4	-4.8	0.02957	-2.888000	0.00778	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1614:0.2539:0.5847:0.0	7.921	0.29006	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	603.33	35	chr19	57926286	.	A	G	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=727;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.66;MQRankSum=-3.565;QD=5.54;ReadPosRankSum=-3.925;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57926289	57926297	GTTTCAGCA	-	exonic	ZNF418	.	nonframeshift deletion	ZNF418:NM_001317030:exon2:c.1629_1637del:p.A544_T546del,ZNF418:NM_133460:exon4:c.1884_1892del:p.A629_T631del,ZNF418:NM_001317027:exon5:c.1947_1955del:p.A650_T652del,ZNF418:NM_001317028:exon5:c.1887_1895del:p.A630_T632del,ZNF418:NM_001317029:exon5:c.1884_1892del:p.A629_T631del	.	427	1080	14	0	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0	0.0001153	3	26028	rs768837080	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0.0001	0.0003	0.0026	0	0.0010	0.0012	0.0005	0.0009	0	0.0035	0.0074	0.0035	0.0035	0.0053	0.0032	0.0031	0.0048	0.0046	0.0006	0.0034	0.0033	0.0136	0	0.0029	0	0.0053	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	384.29	35	chr19	57926288	.	GGTTTCAGCA	G	384.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-4.154;QD=3.59;ReadPosRankSum=-4.506;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57926301	57926301	G	A	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1625T:p.S542F,ZNF418:NM_133460:exon4:c.C1880T:p.S627F,ZNF418:NM_001317027:exon5:c.C1943T:p.S648F,ZNF418:NM_001317028:exon5:c.C1883T:p.S628F,ZNF418:NM_001317029:exon5:c.C1880T:p.S627F	.	430	1079	12	0	1	13	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00390540273441	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001153	3	26028	rs771847469	0.0004	0.0020	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0.0021	0	0.0008	0.0009	0.0004	0.0008	1.161e-05	0.0031	0.0071	0.0031	0.0031	0.0047	0.0028	0.0028	0.0042	0.0041	0.0005	0.0034	0.0031	0.0130	0	0.0026	0	0.0047	0.0043	0.0006	0.283	0.15354	T	0.147	0.47828	T	0.99	0.63424	D	0.787	0.57594	P	.	.	.	.	1	0.08975	N	2.325	0.66631	M	2.15	0.19311	T	-2.78	0.58896	D	0.344	0.39861	-1.0651	0.10526	T	0.073	0.29675	T	9	0.019309342	0.00429	T	0.003905	0.09180	T	0.016	0.02506	.	.	0.276898752692	0.27294	0.024252981284365444	0.02376	0.0289499722451	0.02984	0.366685032845	0.20354	T	0.021685	0.16847	T	-0.228408	0.16858	T	-0.565869	0.15830	T	0.615540385246277	0.37024	D	0.49655	0.18153	T	0.10927151	0.25835	0.1288796	0.30998	0.10927151	0.25835	0.1288796	0.30997	-6.036	0.46580	T	.	.	0.255	0.50609	B	.;.;.;.;.	.;.;.;.;.	2.140614	0.27259	17.40	0.79716995808412361	0.12868	0.08643	0.14543	N	AEFBI	0.106608	0.21265	N	-0.329544032596889	0.28031	1.542745	-0.565126425660344	0.20405	1.099201	1.72760614122142E-5	0.02871	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.528226	0.09195	0	.	.	2.4	1.29	0.20717	-0.106000	0.10860	.	.	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3851:0.4105:0.2044	5.481	0.16017	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	351.33	35	chr19	57926301	.	G	A	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.42;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=-4.22;QD=3.41;ReadPosRankSum=-4.294;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57926315	57926315	G	T	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1611A:p.S537R,ZNF418:NM_133460:exon4:c.C1866A:p.S622R,ZNF418:NM_001317027:exon5:c.C1929A:p.S643R,ZNF418:NM_001317028:exon5:c.C1869A:p.S623R,ZNF418:NM_001317029:exon5:c.C1866A:p.S622R	.	431	1076	6	0	9	15	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00412266712195	.	.	5.788e-05	0	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs7245442	2.681e-05	0.0014	3.283e-05	2.073e-05	5.979e-05	2.007e-05	1.763e-05	1.635e-05	1.389e-05	5.979e-05	2.251e-05	0.0002	0	5.655e-05	0	2.35e-05	3.338e-05	0	0.0007	0.0039	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0007	0.0001	0.0023	0.0009	0.0033	0	0.0008	0	0.0009	0.0010	0	0.25	0.18122	T	0.135	0.34716	T	0.911	0.50336	P	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.2	0.07236	T	-2.83	0.59710	D	0.256	0.30914	-1.0202	0.23649	T	0.016	0.06425	T	9	0.036218226	0.01909	T	0.004123	0.09869	T	0.063	0.18251	0.31	0.28289	0.18995819373	0.18626	0.026930070384032563	0.02643	0.22658052965	0.25209	0.293004572392	0.09361	T	0.009437	0.08594	T	-0.561241	0.00249	T	-0.675211	0.07279	T	0.341226549971076	0.26672	T	0.111589	0.00840	T	0.14615527	0.33471	0.13731952	0.32827	0.14615527	0.33471	0.13731952	0.32826	-4.377	0.29244	T	.	.	0.257	0.49177	B	.;.;.;.;.	.;.;.;.;.	0.033730	0.04519	1.219	0.97486411957214891	0.34219	0.00920	0.03580	N	AEFBI	0.060836	0.11589	N	-1.32887122342335	0.03349	0.1494479	-1.54508096714278	0.02010	0.09184178	2.06913856637791E-4	0.05948	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.08	-2.83	0.05425	-4.687000	0.00229	.	.	-2.603000	0.00234	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2442:0.1737:0.4107:0.1713	1.592	0.02495	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	144.33	35	chr19	57926315	.	G	T	144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=715;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-5.142;QD=1.49;ReadPosRankSum=-4.379;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1162:.	18	0	1	0
chr19	57942098	57942098	C	T	exonic	ZNF256	.	nonsynonymous SNV	ZNF256:NM_001375403:exon2:c.G251A:p.R84K,ZNF256:NM_005773:exon3:c.G710A:p.R237K	.	420	1097	5	0	0	5	0.00227376	.	.	.	3350483	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00438638192965	0.0002	.	0.0001	0	0.0003	0	0	0.0001	0.0011	0	9.7e-05	15	154602	rs376236226	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	9.966e-05	0.0006	0.0004	0	8.944e-05	0	0	0	0.0012	0.0001	0.0001	0	6.569e-05	6.566e-05	7.706e-05	5.378e-05	0.0001	3.515e-05	2.615e-05	7.907e-05	5.993e-05	0	0	0	0	0	0	0	0.0001	0	0	0.316	0.13744	T	0.454	0.12812	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.09	0.04745	N	1.85	0.24472	T	-0.59	0.17624	N	0.062	0.03392	-0.9480	0.41313	T	0.013	0.05081	T	9	0.029851317	0.01111	T	0.004386	0.10687	T	0.028	0.06331	.	.	0.107399877778	0.10242	0.040366289686434374	0.03982	0.0859067736466	0.09707	0.240250185132	0.02813	T	0.008113	0.07462	T	-0.55488	0.00273	T	-0.755388	0.03281	T	0.0132557857853777	0.00236	T	0.00609939	0.00022	T	0.035515152	0.04193	0.035408255	0.02787	0.035515152	0.04193	0.035408255	0.02786	-4.332	0.28623	T	.	.	0.08	0.07793	B	.	.	0.410527	0.07812	4.507	0.77487640106891187	0.11897	0.02178	0.06379	N	AEFDBI	0.035410	0.04552	N	-1.46912650519569	0.02071	0.09106493	-1.39361992081909	0.03319	0.1546065	0.00233075800231605	0.09325	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.41	-1.64	0.07874	-1.919000	0.01663	.	.	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.3151:0.0:0.6849	7.824	0.28469	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2375.33	38	chr19	57942098	.	C	T	2375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=892;ExcessHet=0;FS=4.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.15;SOR=0.74	GT:AD:DP:GQ:PL	0/1:107,84:191:99:2389,0,2735	18	0	1	0
chr19	57979081	57979081	C	A	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.G1329T:p.M443I,ZNF606:NM_001348024:exon6:c.G1329T:p.M443I,ZNF606:NM_001348022:exon7:c.G1599T:p.M533I,ZNF606:NM_001348025:exon7:c.G1125T:p.M375I,ZNF606:NM_025027:exon7:c.G1599T:p.M533I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00220735139963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758537967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.02	0.19048	B	0.000016	0.62929	D	0.000000	0.620641	0.32702	D	-1.085	0.01025	N	5.48	0.00939	T	0.67	0.02263	N	0.243	0.27435	-0.9690	0.37407	T	0.001	0.00438	T	10	0.055755317	0.06145	T	0.002207	0.04178	T	0.267	0.58126	0.459	0.52590	0.201204373187	0.19734	0.0742230664662008	0.07359	0.772036083369	0.64816	0.841368913651	0.88303	D	0.009396	0.08559	T	-0.141997	0.29572	T	-0.441745	0.28612	T	0.584000706672668	0.35772	D	0.533947	0.17813	T	0.23049799	0.45806	0.17751157	0.40358	0.23049799	0.45806	0.17751157	0.40357	0.216	0.00281	T	.	.	0.738	0.74557	P	.	.	2.217844	0.28299	17.75	0.81152909122954719	0.13545	0.00023	0.00238	N	AEFDBHCI	0.090160	0.18271	N	-0.7818342535366	0.13782	0.6815617	-0.553108452961092	0.20723	1.117824	0.00775812414055072	0.11537	0.556989	0.30585	1	0.588066	0.40923	0	0.608884	0.39905	0	0.297325	0.05528	3	.	.	4.71	3.6	0.40374	0.076000	0.14570	.	.	0.507000	0.23093	0.009000	0.18154	0.001000	0.17328	0.999000	0.91618	0.0:0.7444:0.2556:0.0	13.125	0.58766	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	36	chr19	57979081	.	C	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=701;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.344;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	18	0	1	0
chr19	58053779	58053779	C	T	exonic	ZSCAN1	.	nonsynonymous SNV	ZSCAN1:NM_182572:exon6:c.C955T:p.P319S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00536338437415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.970318	0.25710	N	1.365	0.34158	L	1.61	0.28391	T	-7.33	0.94566	D	0.225	0.25253	-0.8601	0.51256	T	0.162	0.49698	T	9	0.4594314	0.59193	T	0.005363	0.13740	T	0.184	0.45763	0.488	0.57257	0.720598499098	0.71813	0.18203116588910356	0.18122	0.658793948642	0.58767	0.276942670345	0.07069	T	0.242449	0.61119	T	-0.190347	0.22207	T	-0.511197	0.21192	T	0.988269329071045	0.78620	D	0.819918	0.47811	T	0.37367648	0.58855	0.25572073	0.51259	0.37367648	0.58856	0.25572073	0.51258	-4.989	0.36720	T	.	.	0.741	0.74667	P	.	.	3.272284	0.44800	22.0	0.99762963807130034	0.85254	0.81429	0.40834	D	AEFDBI	0.296641	0.40643	N	0.115625061416749	0.47191	2.94834	-0.126702382144783	0.34318	1.972682	2.36326821220284E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.22	1.22	0.20300	3.338000	0.51846	.	.	0.454000	0.21428	0.758000	0.29220	0.000000	0.08366	0.123000	0.19290	0.0:1.0:0.0:0.0	8.329	0.31336	970	0.06235	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2333.33	33	chr19	58053779	.	C	T	2333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=795;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.131;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,996	18	0	1	0
chr19	58085278	58085278	G	A	exonic	ZSCAN18	.	nonsynonymous SNV	ZSCAN18:NM_001145544:exon6:c.C532T:p.L178F,ZSCAN18:NM_001145542:exon7:c.C1108T:p.L370F,ZSCAN18:NM_001145543:exon7:c.C940T:p.L314F,ZSCAN18:NM_023926:exon7:c.C940T:p.L314F	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00255988320664	.	.	6.928e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs760913963	2.208e-05	2.189e-05	1.785e-05	2.635e-05	0.0018	1.598e-05	1.367e-05	0.0010	0.0007	0	0	0	0	0	0.0018	1.261e-05	0.0001	1.164e-05	1.972e-05	1.97e-05	0	4.037e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.942e-05	0	0	0.139	0.25768	T	0.194	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	0.355448	0.13750	N	0.601453	1	0.08975	N	0.345	0.11182	N	3.88	0.03570	T	-0.1	0.17003	N	0.024	0.07262	-0.8994	0.48054	T	0.005	0.01725	T	10	0.06396797	0.08414	T	0.00256	0.05150	T	0.046	0.12618	.	.	0.143184338766	0.13958	0.10745141585926862	0.10674	0.0677146525078	0.07574	0.380742371082	0.22362	T	0.008051	0.12641	T	-0.391612	0.02627	T	-0.650007	0.08954	T	0.0148966382885502	0.00316	T	0.483852	0.14720	T	0.06423218	0.13606	0.045760736	0.06228	0.06423218	0.13606	0.045760736	0.06228	-5.488	0.43075	T	.	.	0.191	0.44253	B	.;.;.;.;.	.;.;.;.;.	0.927292	0.13022	9.529	0.87154485264369175	0.17026	0.04342	0.09906	N	AEFDBI	0.073695	0.14748	N	-1.07791479534323	0.07051	0.3264503	-1.08424157397537	0.08010	0.3920178	0.00302701194395094	0.09875	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	3.23	2.18	0.26813	0.193000	0.16921	1.323000	0.25616	0.674000	0.70861	0.000000	0.06391	0.022000	0.20871	0.001000	0.02609	0.1224:0.2147:0.6629:0.0	4.953	0.13376	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1030.33	34	chr19	58085278	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=729;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.74;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	18	0	1	0
chr19	58294362	58294362	G	C	exonic	ZNF8	.	nonsynonymous SNV	ZNF8:NM_021089:exon4:c.G554C:p.S185T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00716021993479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.06186	T	0.118	0.26577	B	0.054	0.25828	B	0.082016	0.20833	N	0.456431	1	0.08975	N	0.975	0.24501	L	.	.	.	.	.	.	0.154	0.15888	-0.9336	0.43605	T	0.014	0.05657	T	10	0.08754313	0.14989	T	0.00716	0.18979	T	.	.	0.247	0.18293	0.143124449307	0.13826	0.12928065376498843	0.12853	.	.	0.259541749954	0.04836	T	0.041698	0.25942	T	-0.287932	0.09845	T	-0.651371	0.08858	T	0.0776549056172371	0.09684	T	0.449655	0.12671	T	0.05498003	0.10625	0.06095951	0.11692	0.05498003	0.10624	0.06095951	0.11692	-4.025	0.24177	T	.	.	0.104	0.18705	B	.	.	0.666635	0.10352	7.079	0.89508718408346843	0.18857	0.09834	0.15499	N	AEFBI	0.036937	0.04999	N	-0.906833771988009	0.10681	0.5116038	-0.9666699878439	0.10539	0.5314258	0.0500486685227052	0.14826	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.54	-1.17	0.09152	0.491000	0.22128	0.659000	0.20486	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.699000	0.34110	0.4491:0.0:0.5509:0.0	8.590	0.32845	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1923.33	36	chr19	58294362	.	G	C	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.56;SOR=0.662	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1424	18	0	1	0
chr19	58356257	58356257	T	C	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.A1379G:p.H460R,ZNF497:NM_198458:exon3:c.A1379G:p.H460R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.00197006961969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014965625	7.571e-06	7.525e-06	4.105e-06	1.108e-05	0.0002	4.06e-06	2.97e-06	3.82e-06	2.77e-06	0	0	0	0	0	0.0002	8.118e-06	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.617287	0.30810	N	4.12	0.97420	H	-2.18	0.86722	D	-7.44	0.94872	D	0.408	0.44857	0.488	0.90377	D	0.816	0.93783	D	9	0.88179886	0.87493	D	0.00197	0.03535	T	0.248	0.55615	0.789	0.91142	0.869165155751	0.86789	0.4530318213077178	0.45221	1.02964464637	0.75386	0.744338274002	0.73611	T	0.163236	0.50821	T	0.0819019	0.62261	D	-0.12013	0.61792	T	0.805543739024762	0.46735	D	0.79922	0.44465	T	0.4597152	0.64653	0.3938836	0.64096	0.4597152	0.64654	0.3938836	0.64096	-12.043	0.85060	D	.	.	0.970	0.89728	P	.;.	.;.	2.395207	0.30761	18.54	0.95113050938061205	0.26202	0.73846	0.36120	D	AEFDBCIJ	0.199656	0.32644	N	0.118548306463898	0.47328	2.960086	-0.203818873369474	0.31398	1.776599	0.99999905327472	0.74766	0.455138	0.09556	0	0.759151	0.99529	0	0.0	0.00061	3	0.56751	0.32155	0	.	.	1.14	1.14	0.19817	1.818000	0.38650	-0.080000	0.12189	0.266000	0.18458	1.000000	0.71638	0.017000	0.20586	0.009000	0.08673	0.0:0.0:0.0:1.0	7.722	0.27901	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	33	chr19	58356257	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=725;ExcessHet=0;FS=1.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.713;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	18	0	1	0
chr19	58396328	58396328	G	C	exonic	RNF225	.	nonsynonymous SNV	RNF225:NM_001195135:exon1:c.G239C:p.R80P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0083	0.0066	0	0.0007	0	0.0003	0.0001811	28	154602	rs774611903	0.0009	0.0009	0.0010	0.0009	0.0082	0.0009	0.0009	0.0074	0.0071	3.166e-05	0	0.0022	0.0082	0.0140	0.0002	0.0004	0.0014	5.048e-05	0.0015	0.0015	0.0011	0.0019	0.0027	0.0013	0.0013	0.0016	0.0013	2.404e-05	0	0	0.0017	0.0027	0.0140	0	0.0008	0.0005	0	.	.	.	0.252	0.23570	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	.	.	.	0.487	0.52119	.	.	.	.	.	.	.	0.007766098	0.00176	T	.	.	.	.	.	.	.	0.628336401329	0.62530	0.7408148370667663	0.74026	.	.	0.679618000984	0.64214	T	0.038909	0.25005	T	-0.545902	0.00309	T	-0.561854	0.16204	T	.	.	.	0.910809	0.68393	D	0.480	0.65882	0.541919	0.73525	0.480	0.65883	0.541919	0.73525	-13.761	0.92254	D	.	.	0.834	0.78918	P	.	.	4.234470	0.64146	24.7	0.52718933260683887	0.04801	0.85515	0.44655	D	AEFDBHCIJ	0.444923	0.50161	N	.	.	.	.	.	.	0.999996207391923	0.74766	0.56387	0.32371	0	0.379588	0.06130	0	0.503968	0.08637	0	0.645665	0.59343	0	.	.	4.06	3.02	0.33970	0.457000	0.21588	6.107000	0.53619	0.522000	0.23927	0.074000	0.22182	1.000000	0.68203	0.983000	0.59808	0.1081:0.0:0.6884:0.2034	5.154	0.14352	952	0.10565	Zinc finger, RING-type|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002786	0.000000	0.010288	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2061.33	37	chr19	58396328	.	G	C	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.194;SOR=0.706	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2075,0,1899	18	0	1	0
chr19	58470764	58470764	C	T	exonic	ZNF324	.	nonsynonymous SNV	ZNF324:NM_014347:exon4:c.C272T:p.S91F	.	423	1097	2	0	0	2	0.000910747	.	.	.	2392505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00982501212395	0.0004	0.000199681	0.0002	0	8.637e-05	0	0	0.0002	0	0.0003	0.0001746	27	154602	rs11550924	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	8.961e-05	4.472e-05	0	0	0	0.0002	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	8.712e-05	0.0003	0.0002	2.406e-05	0	6.536e-05	0	0	0	0	0.0002	0.0005	0.0008	0.003	0.68238	D	0.013	0.63109	D	0.924	0.51285	P	0.459	0.46380	P	0.661050	0.10426	N	0.786081	1	0.08975	N	1.525	0.38595	L	3.33	0.06138	T	-1.67	0.39887	N	0.428	0.46742	-0.9674	0.37733	T	0.016	0.06329	T	10	0.04876986	0.04372	T	0.009825	0.25608	T	0.052	0.14661	.	.	0.349429436713	0.34558	0.1973162567364802	0.19648	1.39758405531	0.85125	0.315463542938	0.12734	T	0.05408	0.29621	T	-0.427973	0.01525	T	-0.530564	0.19230	T	0.0732925798487718	0.09106	T	0.865613	0.56501	D	0.075293444	0.16953	0.11528778	0.27831	0.075293444	0.16953	0.11528778	0.27830	-5.035	0.37218	T	.	.	0.169	0.37198	B	.;.;.	.;.;.	2.393292	0.30738	18.53	0.99518110058920284	0.69040	0.13701	0.18004	N	AEFDBCI	0.051074	0.08989	N	-0.570222826538981	0.19853	1.042352	-0.750409933492786	0.15712	0.8277218	0.944876304952062	0.27635	0.460665	0.09802	0	0.577304	0.33150	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	3.07	0.842	0.18064	0.183000	0.16729	1.891000	0.29518	0.545000	0.25583	0.000000	0.06391	0.010000	0.20010	0.006000	0.07323	0.2016:0.6798:0.0:0.1186	5.314	0.15153	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2850.33	33	chr19	58470764	.	C	T	2850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1137;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=-1.118;QD=11.63;ReadPosRankSum=-0.3;SOR=0.81	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	18	0	1	0
chr19	58517234	58517234	G	A	exonic	ZBTB45	.	nonsynonymous SNV	ZBTB45:NM_001316978:exon2:c.C440T:p.A147V,ZBTB45:NM_001316979:exon2:c.C440T:p.A147V,ZBTB45:NM_001316980:exon2:c.C440T:p.A147V,ZBTB45:NM_001316981:exon2:c.C440T:p.A147V,ZBTB45:NM_001316982:exon2:c.C440T:p.A147V,ZBTB45:NM_032792:exon2:c.C440T:p.A147V	.	400	1119	3	0	0	3	0.00133869	.	.	.	2332618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.116802592691	.	0.000199681	0.0003	0	0.0008	0	0	0.0003	0.0014	0	0.0002135	33	154602	rs201131766	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0032	0.0028	0.0002	0.0005	3.902e-05	5.064e-05	0	0.0046	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	8.716e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0001	0.0028	0	0.004	0.65419	D	0.046	0.49120	D	0.998	0.73220	D	0.757	0.56292	P	0.473131	0.04937	N	1.414250	0.627648	0.30726	N	0.975	0.24501	L	2.96	0.09542	T	-1.26	0.31778	N	0.378	0.42050	-1.0081	0.27510	T	0.037	0.16073	T	10	0.09021947	0.15698	T	0.116803	0.79640	D	0.106	0.30130	.	.	0.602107291794	0.59893	0.29392500729795973	0.29305	0.579827587578	0.53846	0.921358883381	0.98425	D	0.021936	0.17000	T	-0.385047	0.02894	T	-0.441439	0.28646	T	0.048295928082925	0.05196	T	0.653735	0.26383	T	0.083271995	0.19223	0.12548979	0.30235	0.083271995	0.19223	0.12548979	0.30234	-5.731	0.43968	T	.	.	0.284	0.51626	B	.;.;.	.;.;.	4.123628	0.61658	24.4	0.99913377357925048	0.98238	0.74899	0.36652	D	AEFDBHI	0.121767	0.23659	N	0.0970148515311515	0.46322	2.874462	0.0591569886557788	0.42515	2.572936	0.999999937473154	0.74766	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	3.84	2.69	0.30923	3.425000	0.52535	5.655000	0.49197	0.610000	0.48991	0.987000	0.36337	1.000000	0.68203	0.229000	0.22707	0.0:0.0:0.7975:0.2025	10.009	0.41144	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.005155	0.002717	0.017544	0.000000	0.000000	0.000000	0.007576	0.02632	2573.33	80	chr19	58517234	.	G	A	2573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=896;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.135;SOR=0.399	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	18	0	1	0
chr19	58562713	58562713	A	G	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.T1564C:p.F522L,MZF1:NM_198055:exon6:c.T1564C:p.F522L	.	426	1057	37	2	0	41	0.0190255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	.	.	0.00399361	0.0175	0	0	0	0	0.0095	0.0076	0.0227	0.0020892	323	154602	rs368446779	0.0018	0.0017	0.0012	0.0024	0.0186	0.0017	0.0017	0.0178	0.0175	0.0001	0.0017	0.0132	0.0002	2.949e-05	0.0075	0.0003	0.0033	0.0186	0.0016	0.0016	0.0013	0.0019	0.0199	0.0014	0.0013	0.0167	0.0155	0.0001	0	0.0040	0.0127	0.0002	0	0.0034	0.0003	0.0038	0.0199	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.864	0.61462	P	0.029907	0.25385	N	0.194139	0.994703	0.42384	D	2.78	0.81115	M	1.01	0.41058	T	-5.44	0.85397	D	0.545	0.57177	-0.4269	0.71166	T	0.256	0.62620	T	10	0.008585453	0.00194	T	.	.	.	0.401	0.71479	0.876	0.96632	0.720981639776	0.71852	0.21263705587622023	0.21179	1.80544744655	0.91727	0.943784475327	0.99586	D	0.523958	0.83404	D	-0.200832	0.20685	T	-0.0463209	0.67273	D	0.0905500721603535	0.11284	T	0.851115	0.53499	D	0.6772557	0.76822	0.70912534	0.82845	0.6772557	0.76823	0.70912534	0.82846	-10.583	0.77323	D	.	.	0.995	0.95577	P	.;.	.;.	5.006865	0.83121	28.0	0.99726774648267746	0.82477	0.99488	0.96641	D	AEFDGBHIJ	0.907463	0.86152	D	0.69106944119022	0.79047	6.996014	0.579250800344349	0.73453	5.973056	0.999999999998864	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	3.57	3.57	0.40014	8.935000	0.92440	10.300000	0.83276	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	10.739	0.45340	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009150	0.005618	0.002985	0.009317	0.000000	0.000000	0.006667	0.031250	0.02632	1172.33	35	chr19	58562713	.	A	G	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.527;DP=746;ExcessHet=0;FS=5.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.71;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	18	0	1	0
chr19	58569343	58569343	C	T	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon5:c.G706A:p.G236S,MZF1:NM_003422:exon5:c.G706A:p.G236S,MZF1:NM_198055:exon5:c.G706A:p.G236S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00459960087461	7.7e-05	0.000998403	0.0010	0	0	0.0001	0	0.0003	0	0.0064	0.0008732	135	154602	rs201976128	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0004	0.0055	0.0053	2.987e-05	2.238e-05	0	0	0	0.0003	0.0002	0.0005	0.0059	0.0003	0.0003	0.0003	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	4.816e-05	0	0	0	0	0	0	0.0003	0.0005	0.0052	0.426	0.09658	T	0.709	0.07127	T	0.099	0.25639	B	0.056	0.26147	B	0.758232	0.06524	N	1.182330	1	0.08975	N	0.695	0.17993	N	4.02	0.06368	T	-0.13	0.08971	N	0.358	0.45047	-0.9211	0.45403	T	0.010	0.03811	T	10	0.0033762455	0.00059	T	0.005	0.11377	T	0.027	0.05988	.	.	0.18995819373	0.18626	0.05734852282106912	0.05675	0.126856123759	0.14296	0.433320224285	0.29663	T	0.070114	0.42045	T	-0.600961	0.00144	T	-0.633126	0.10178	T	0.0149945699265019	0.00322	T	0.640736	0.25328	T	0.030657005	0.02766	0.042213462	0.04976	0.030657005	0.02766	0.042213462	0.04976	-3.708	0.21749	T	.	.	0.109	0.21766	B	.;.;.;.	.;.;.;.	1.967619	0.24995	16.60	0.87650985141188942	0.17381	0.04554	0.10194	N	AEFBHI	0.057652	0.10756	N	-1.16856503768916	0.05481	0.2499817	-1.17693642575195	0.06296	0.3026496	0.988748313294207	0.31614	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.87	1.66	0.23081	0.596000	0.23744	0.977000	0.23099	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.5457:0.4543:0.0:0.0	9.816	0.40021	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003817	0.02632	1727.33	34	chr19	58569343	.	C	T	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=780;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.069;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	58569396	58569396	C	G	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon5:c.G653C:p.R218T,MZF1:NM_003422:exon5:c.G653C:p.R218T,MZF1:NM_198055:exon5:c.G653C:p.R218T	.	.	.	.	.	.	.	.	0.0002	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00270884691847	.	.	8.249e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs200449491	3.42e-06	3.42e-06	4.084e-06	2.75e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05245	T	0.575	0.08654	T	0.001	0.07471	B	0.001	0.04355	B	0.738183	0.06411	N	1.175380	1	0.08975	N	0	0.06538	N	4.21	0.06445	T	0.33	0.03889	N	0.198	0.29774	-0.9213	0.45376	T	0.007	0.02518	T	9	0.0682354	0.09622	T	0.002709	0.05579	T	0.017	0.02790	0.348	0.34436	0.139678290688	0.13603	0.08854700796321084	0.08787	0.0817085112098	0.09202	0.322335481644	0.13774	T	0.079206	0.36074	T	-0.395742	0.02469	T	-0.709378	0.05327	T	0.0165999992110392	0.00421	T	0.665033	0.27384	T	0.06881668	0.15025	0.033612467	0.02284	0.06881668	0.15024	0.033612467	0.02284	-3.063	0.10876	T	.	.	0.073	0.08948	B	.;.;.;.	.;.;.;.	0.689742	0.10586	7.290	0.77284022415734799	0.11812	0.06487	0.12497	N	AEFBHI	0.081529	0.16499	N	-1.18498021746181	0.05227	0.237783	-1.24183260444037	0.05253	0.2498581	0.998833380107385	0.37777	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.87	-4.5	0.03247	-0.629000	0.05605	-0.652000	0.08023	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.798000	0.37648	0.1479:0.2801:0.2901:0.2819	0.924	0.01238	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2180.33	34	chr19	58569396	.	C	G	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.04;DP=781;ExcessHet=0;FS=3.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=1.48;SOR=0.802	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr19	58571146	58571146	G	C	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon2:c.C244G:p.Q82E,MZF1:NM_003422:exon2:c.C244G:p.Q82E,MZF1:NM_198055:exon2:c.C244G:p.Q82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00567561728848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.92824	D	0.942	0.52977	P	0.788	0.57636	P	0.003080	0.35480	N	0.000000	0.72539	0.33661	D	2.08	0.57402	M	3.23	0.06931	T	-2.03	0.46673	N	0.655	0.66529	-0.9213	0.45376	T	0.074	0.29897	T	9	0.6078953	0.67278	D	0.005676	0.14681	T	0.172	0.43662	0.749	0.87988	0.587478218395	0.58422	0.40978173929432204	0.40894	0.370738333658	0.38584	0.710194826126	0.68622	T	0.139101	0.61654	T	-0.128639	0.31715	T	-0.422558	0.30783	T	0.909407377243042	0.56430	D	0.854814	0.54193	D	0.74599224	0.80636	0.75882417	0.85749	0.74599224	0.80637	0.75882417	0.85750	-6.619	0.51199	T	.	.	0.072	0.11461	B	.;.;.;.	.;.;.;.	3.124869	0.42199	21.5	0.99438872672531409	0.64670	0.92854	0.56708	D	AEFDBI	0.270435	0.38650	N	0.474774870753481	0.65622	4.845644	0.3901960171216	0.60959	4.289647	0.999999992779279	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.35	4.35	0.51454	0.491000	0.22128	11.353000	0.92575	0.676000	0.76740	0.159000	0.23783	1.000000	0.68203	0.719000	0.34739	0.0:0.0:1.0:0.0	14.774	0.69325	952	0.10565	.;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1557.33	33	chr19	58571146	.	G	C	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=731;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.361;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1337	18	0	1	0
chr20	96398	96398	C	G	exonic	DEFB125	.	nonsynonymous SNV	DEFB125:NM_153325:exon2:c.C452G:p.T151R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000832077720984	.	.	3.318e-05	0	8.651e-05	0	0	3.013e-05	0	6.177e-05	2.59e-05	4	154602	rs773249372	9.585e-06	9.577e-06	4.087e-06	1.514e-05	0.0003	5.56e-06	4.35e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	7.198e-06	4.972e-05	1.16e-05	2.627e-05	2.625e-05	2.57e-05	2.686e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.283	0.15354	T	0.13	0.34716	T	0.006	0.13644	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.52	0.16187	N	0.05	0.02179	-0.9887	0.32928	T	0.013	0.04843	T	9	0.033820063	0.01569	T	8.32E-4	0.00691	T	0.011	0.01250	0.244	0.17830	0.0138822411134	0.00435	0.05085030216266109	0.05027	0.0842060663455	0.09501	0.339974790812	0.16434	T	0.00893	0.08161	T	-0.420293	0.01703	T	-0.733841	0.04155	T	0.0242235141182377	0.01173	T	0.272373	0.04609	T	0.063440055	0.13357	0.046497814	0.06495	0.063440055	0.13356	0.046497814	0.06494	-5.932	0.45707	T	.	.	0.068	0.02861	B	.	.	-0.928051	0.00879	0.032	0.23480855660855474	0.00994	0.00268	0.01460	N	AEFBI	0.014797	0.00251	N	-2.05268576919088	0.00163	0.006961278	-2.13848685628599	0.00154	0.00675122	0.0109001945684169	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.01	-6.02	0.02008	-1.211000	0.03106	-9.000000	0.00882	-2.631000	0.00227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1738:0.2836:0.4066:0.1361	1.901	0.03069	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3958.33	44	chr20	96398	.	C	G	3958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=1034;ExcessHet=0;FS=1.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.554;SOR=0.785	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr20	229587	229587	C	A	exonic	DEFB129	.	nonsynonymous SNV	DEFB129:NM_080831:exon2:c.C368A:p.T123N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00256840326739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0007	2.35e-06	1.7e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.134	0.34241	T	0.003	0.11197	B	0.009	0.14300	B	0.565395	0.05448	N	1.250940	1	0.08975	N	1.355	0.33814	L	0.94	0.43672	T	-3.25	0.65283	D	0.108	0.09349	-1.0389	0.17648	T	0.056	0.23565	T	10	0.06647387	0.09122	T	0.002568	0.05178	T	0.134	0.36365	0.174	0.08014	0.0297737177859	0.01360	0.170470492625432	0.16967	0.371070480657	0.38610	0.297034859657	0.09961	T	0.039187	0.25102	T	-0.34358	0.05144	T	-0.731305	0.04269	T	0.286457061767578	0.24442	T	0.523848	0.17156	T	0.109523945	0.25893	0.108900666	0.26239	0.109523945	0.25893	0.108900666	0.26238	-4.2	0.26751	T	.	.	0.095	0.15070	B	.	.	-0.299681	0.02620	0.328	0.9277518692965695	0.22289	0.01486	0.04939	N	AEFBI	0.029317	0.02744	N	-1.39682907426005	0.02668	0.1181364	-1.49429267442138	0.02390	0.1098639	0.00422534174072547	0.10464	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	-5.25	0.02567	-0.525000	0.06302	-1.361000	0.05622	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2417:0.1792:0.2385:0.3406	0.229	0.00165	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2758.33	37	chr20	229587	.	C	A	2758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=1261;ExcessHet=0;FS=2.192;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.27;SOR=0.854	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	18	0	1	0
chr20	326558	326558	G	A	exonic	SOX12	.	nonsynonymous SNV	SOX12:NM_006943:exon1:c.G634A:p.A212T	.	201	1285	35	1	0	37	0.0141926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	.	0.00179712	0.0256	0	0.0227	0	.	0.0088	0.0217	0.0323	0.0011125	172	154602	rs562098614	0.0032	0.0030	0.0028	0.0037	0.0177	0.0031	0.0031	0.0169	0.0166	0.0006	0.0014	0.0003	0	7.914e-05	0.0096	0.0026	0.0033	0.0177	0.0018	0.0018	0.0017	0.0020	0.0159	0.0017	0.0016	0.0130	0.0119	0.0005	0	0.0013	0.0006	0	9.446e-05	0.0035	0.0022	0.0024	0.0159	0.122	0.27663	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999887	0.19853	N	0.345	0.11182	N	-4.52	0.97693	D	-0.01	0.07155	N	0.19	0.20793	-0.0268	0.81698	T	0.724	0.90536	D	9	0.0043923557	0.00089	T	.	.	.	0.297	0.61730	.	.	0.474168873855	0.47044	0.08394618797522635	0.08328	.	.	0.875440776348	0.93337	D	0.040251	0.25466	T	-0.317803	0.07079	T	-0.213683	0.53343	T	0.00283458586729885	0.00030	T	0.332967	0.07033	T	0.032572355	0.03308	0.10098065	0.24159	0.032572355	0.03307	0.10098065	0.24159	-6.794	0.52515	T	.	.	0.082	0.08899	B	.	.	1.599753	0.20451	14.76	0.9680411863745384	0.31161	0.08650	0.14549	N	AEFDBHCIJ	0.038486	0.05455	N	-0.906063815489928	0.10699	0.5125643	-0.811478820190698	0.14218	0.7417479	0.999999449189543	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.52	1.29	0.20717	-0.056000	0.11744	0.097000	0.14596	-0.319000	0.05888	0.004000	0.16614	0.960000	0.29291	0.655000	0.32830	0.247:0.0:0.753:0.0	8.612	0.32973	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012367	0.000000	0.006579	0.015504	0.000000	0.000000	0.019608	0.020548	0.07895	1901.77	39	chr20	326558	.	G	A	1901.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.055;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.38;ReadPosRankSum=1.66;SOR=0.6	GT:AD:DP:GQ:PL	0/1:16,18:34:99:509,0,411	17	1	1	0
chr20	845282	845282	C	T	exonic	FAM110A	.	nonsynonymous SNV	FAM110A:NM_031424:exon1:c.C478T:p.P160S,FAM110A:NM_001042353:exon2:c.C478T:p.P160S,FAM110A:NM_001289146:exon2:c.C478T:p.P160S,FAM110A:NM_001289147:exon2:c.C478T:p.P160S,FAM110A:NM_207121:exon2:c.C478T:p.P160S,FAM110A:NM_001289145:exon3:c.C478T:p.P160S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0221278097946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.018	0.59732	D	0.958	0.54977	D	0.441	0.45749	B	0.001529	0.38731	N	0.158685	0.840658	0.28635	N	1.935	0.51832	L	1.38	0.34050	T	-0.76	0.21215	N	0.251	0.28381	-1.0690	0.09634	T	0.070	0.28609	T	10	0.22794566	0.39687	T	0.022128	0.44986	T	0.089	0.25827	0.199	0.11247	0.196089822672	0.19227	0.540557252621337	0.53980	0.966414129354	0.73198	0.712128937244	0.68901	T	0.017005	0.13947	T	-0.158708	0.26960	T	-0.465749	0.25976	T	0.503723680973053	0.32765	D	0.754725	0.37732	T	0.07910173	0.18053	0.08979197	0.21019	0.07910173	0.18053	0.08979197	0.21018	-5.026	0.37121	T	0.1517083005833212	0.17917	0.107	0.21877	B	.;.;.;.;.	.;.;.;.;.	2.628717	0.34181	19.55	0.87659205524899353	0.17387	0.73073	0.35749	D	AEFDBCI	0.428847	0.49220	N	-0.0309482632179858	0.40458	2.402945	-0.020421943031416	0.38793	2.290688	0.999999475089872	0.74766	0.608966	0.35542	0	0.587265	0.34161	0	0.64067	0.45733	0	0.505526	0.08623	0	.	.	4.74	4.74	0.59717	3.691000	0.54452	4.840000	0.45276	0.548000	0.25860	0.992000	0.37556	1.000000	0.68203	0.475000	0.28453	0.0:1.0:0.0:0.0	16.450	0.83816	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1082.33	38	chr20	845282	.	C	T	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.886;SOR=0.629	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr20	885209	885209	G	A	exonic	ANGPT4	.	nonsynonymous SNV	ANGPT4:NM_001322809:exon4:c.C704T:p.T235I,ANGPT4:NM_015985:exon4:c.C704T:p.T235I	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0101049720687	7.7e-05	.	5.028e-05	0	0	0	0	3.181e-05	0	0.0002	1.94e-05	3	154602	rs375064442	1.246e-05	1.3e-05	1.099e-05	1.394e-05	0.0009	7.79e-06	6.42e-06	0.0003	0.0002	0	0	0	0	0	0.0009	2.717e-06	1.676e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.141	0.33442	T	0.454	0.36182	P	0.198	0.36766	B	0.406529	0.04566	N	1.382280	0.935903	0.26932	N	1.525	0.38595	L	2.56	0.13673	T	-2.6	0.55983	D	0.086	0.06322	-1.0037	0.28844	T	0.028	0.12147	T	10	0.09780726	0.17641	T	0.010105	0.26235	T	0.040	0.10527	.	.	0.592629291814	0.58940	0.14814052613559187	0.14736	0.214485801708	0.23985	0.393214285374	0.24121	T	0.035312	0.23667	T	-0.447928	0.01161	T	-0.69529	0.06087	T	0.292406797409058	0.24690	T	0.532847	0.17735	T	0.069546096	0.15244	0.16779386	0.38690	0.069546096	0.15244	0.16779386	0.38689	-5.307	0.40012	T	.	.	0.165	0.36355	B	.	.	2.000238	0.25411	16.75	0.9747569385420588	0.34162	0.29822	0.23922	N	AEFDBHCI	0.146235	0.26964	N	-0.369380540517147	0.26565	1.450841	-0.352652520207503	0.26427	1.459636	0.999082363159802	0.38397	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.526665	0.08891	0	.	.	4.7	2.59	0.30091	1.844000	0.38910	4.631000	0.44116	0.676000	0.76740	0.530000	0.27189	0.935000	0.28640	0.148000	0.20235	0.1078:0.0:0.6287:0.2635	5.144	0.14304	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1566.33	108	chr20	885209	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.311;DP=788;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.028;SOR=0.901	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr20	1228479	1228479	G	A	exonic	RAD21L1	.	nonsynonymous SNV	RAD21L1:NM_001136566:exon2:c.G26A:p.S9N,RAD21L1:NM_001384355:exon2:c.G26A:p.S9N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00231969462239	.	.	4.686e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775142447	1.646e-05	1.573e-05	1.412e-05	1.886e-05	0.0002	1.096e-05	9.16e-06	0.0001	8.52e-05	0	0	0	0	0	0	7.42e-06	1.727e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.37750	T	0.225	0.31427	T	0.025	0.19245	B	0.098	0.30479	B	0.001764	0.38052	N	0.234953	0.526574	0.31941	D	1.455	0.36767	L	1.49	0.31470	T	-2.2	0.51319	N	0.216	0.24135	-0.9504	0.40903	T	0.087	0.33802	T	10	0.21694845	0.38292	T	0.00232	0.04479	T	0.098	0.28162	0.644	0.78117	0.1749357433	0.17121	0.2120820831873489	0.21124	.	.	0.771816968918	0.77696	T	0.100553	0.40646	T	-0.398741	0.02360	T	-0.541241	0.18174	T	0.0903279092249959	0.11258	T	0.80342	0.48387	T	0.16814649	0.37254	0.18420582	0.41459	0.16814649	0.37254	0.18420582	0.41458	-4.557	0.31627	T	.	.	0.153	0.37501	B	.;.;.	.;.;.	1.760282	0.22389	15.60	0.97547120400226883	0.34544	0.79465	0.39382	D	AEFDBI	0.166818	0.29344	N	-0.0998070882242075	0.37402	2.175429	-0.0186099385953068	0.38876	2.296685	0.597228841161176	0.21696	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.88	2.85	0.32333	1.491000	0.35192	4.428000	0.43340	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3365:0.0:0.6635:0.0	7.707	0.27822	872	0.31118	.;Rad21/Rec8-like protein, N-terminal;Rad21/Rec8-like protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	426.33	34	chr20	1228479	.	G	A	426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.368;DP=662;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.893;SOR=0.746	GT:AD:DP:GQ:PL	0/1:27,19:46:99:440,0,723	18	0	1	0
chr20	1313429	1313429	G	A	exonic	SDCBP2	.	stopgain	SDCBP2:NM_015685:exon1:c.C40T:p.R14X,SDCBP2:NM_001199784:exon5:c.C295T:p.R99X,SDCBP2:NM_080489:exon5:c.C295T:p.R99X	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00179712	0.0050	0.0008	0.0039	0	0.0012	0.0058	0.0039	0.0085	0.003564	551	154602	rs141976631	0.0040	0.0040	0.0038	0.0042	0.0125	0.0039	0.0039	0.0101	0.0093	0.0005	0.0034	0.0002	5.092e-05	0.0006	0.0125	0.0041	0.0043	0.0084	0.0032	0.0032	0.0033	0.0030	0.0075	0.0029	0.0029	0.0055	0.0051	0.0007	0	0.0065	0	0	0.0008	0	0.0044	0.0052	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.386	0.42834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124811	0.66851	D	0.411492	0.92479	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;Recessive	High;.;High;High	9.911667	0.99427	44	0.99801038420783295	0.88550	0.84741	0.43829	D	AEFDBCI	0.199958	0.32672	N	0.63374867800298	0.75319	6.285283	0.453379610405084	0.64932	4.760452	0.999997625118918	0.74766	0.685219	0.55550	0	0.61073	0.52368	0	0.674405	0.61402	0	0.604282	0.37693	0	.	.	5.14	4.13	0.47661	2.208000	0.42436	6.178000	0.54590	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.949000	0.49496	0.0:0.0:0.7101:0.2899	10.179	0.42135	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008105	0.005155	0.012228	0.011696	0.000000	0.000000	0.009317	0.000000	0.02632	762.33	33	chr20	1313429	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=688;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.56;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr20	1318355	1318355	A	G	exonic	SDCBP2	.	nonsynonymous SNV	SDCBP2:NM_001199784:exon4:c.T188C:p.V63A,SDCBP2:NM_080489:exon4:c.T188C:p.V63A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00856641635075	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190885212	2.053e-06	2.052e-06	0	4.127e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.994e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.065	0.44702	T	0.127	0.26966	B	0.04	0.23831	B	0.000001	0.84330	D	0.000000	0.99997	0.53665	D	2.545	0.74286	M	1.47	0.31987	T	-2.84	0.59873	D	0.482	0.53796	-0.8260	0.53556	T	0.181	0.52782	T	10	0.23510003	0.40564	T	0.008566	0.22655	T	0.193	0.47281	0.282	0.23801	0.256283259241	0.25257	0.5550115231885079	0.55428	0.434237229985	0.43548	0.535209298134	0.43768	T	0.155675	0.49750	T	0.0957606	0.63830	D	-0.100223	0.63380	T	0.979119837284088	0.72666	D	0.615039	0.23503	T	0.26633966	0.49704	0.27513888	0.53448	0.26633966	0.49703	0.27513888	0.53447	-3.571	0.17438	T	.	.	0.299	0.54412	B	.;.;.	.;.;.	3.891202	0.56615	23.8	0.99331744411285494	0.59816	0.98691	0.85635	D	AEFBI	0.859341	0.77700	D	0.471834728529764	0.65452	4.82431	0.510005543476538	0.68661	5.251115	0.999999996725993	0.74766	0.615465	0.37627	0	0.624146	0.53433	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.94	4.94	0.64645	6.962000	0.75842	10.853000	0.83948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	10.916	0.46348	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	858.33	33	chr20	1318355	.	A	G	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.463;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	18	0	1	0
chr20	1479850	1479850	G	A	exonic	SIRPB2	.	nonsynonymous SNV	SIRPB2:NM_001122962:exon2:c.C301T:p.R101W	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00553580796468	.	0.000199681	6.651e-05	0.0002	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs200805923	5.746e-05	5.746e-05	3.403e-05	8.113e-05	0.0005	4.743e-05	4.366e-05	0.0004	0.0003	2.987e-05	2.236e-05	3.826e-05	0	0	0	2.878e-05	0.0001	0.0005	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0004	2.555e-05	1.829e-05	7.285e-05	3.045e-05	0.0001	0	6.533e-05	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.017	0.60337	D	0.215	0.30128	B	0.022	0.19653	B	0.009679	0.01249	N	2.624730	1	0.08975	N	1.78	0.46185	L	0.99	0.41750	T	-1.96	0.45404	N	0.257	0.29081	-1.0150	0.25336	T	0.070	0.28544	T	10	0.03217441	0.01364	T	0.005536	0.14258	T	0.030	0.07022	.	.	0.243398259712	0.23965	0.3021104964119157	0.30124	0.0504539778809	0.05541	0.245463207364	0.03305	T	0.08226	0.36788	T	-0.475413	0.00787	T	-0.592714	0.13432	T	0.0557506866753101	0.06483	T	0.574842	0.20648	T	0.0694363	0.15211	0.056016285	0.09932	0.0694363	0.15211	0.056016285	0.09931	-6.91	0.53373	T	.	.	0.081	0.08224	B	.	.	1.180841	0.15714	12.05	0.99491859561982454	0.67516	0.00911	0.03557	N	AEFBI	.	.	.	-1.0912264560361	0.06803	0.3142596	-1.15920776994899	0.06604	0.3184403	0.999625264441853	0.41093	0.562547	0.31514	0	0.563428	0.19063	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	3.57	-0.931	0.09907	-1.730000	0.01954	-0.019000	0.12951	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.158000	0.20581	0.109:0.0:0.3251:0.566	5.227	0.14722	923	0.18507	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3620.81	37	chr20	1479850	.	G	A	3620.81	.	AC=2;AF=0.053;AN=38;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.21;SOR=0.8	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	1	0	0
chr20	1921614	1921614	G	A	exonic	SIRPA	.	nonsynonymous SNV	SIRPA:NM_001040023:exon3:c.G656A:p.R219H,SIRPA:NM_001040022:exon4:c.G656A:p.R219H,SIRPA:NM_001330728:exon4:c.G656A:p.R219H,SIRPA:NM_080792:exon4:c.G656A:p.R219H	.	433	1088	1	0	0	1	0.000459348	.	.	.	3595971	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.0106596631037	0.0003	0.000199681	9.887e-05	0.0011	0	0	0	1.499e-05	0	0	8.41e-05	13	154602	rs140075472	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0008	2.062e-05	1.816e-05	0.0005	0.0005	0.0008	2.236e-05	0	0	0	0	4.496e-06	0.0001	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	0	0.0005	0	0.127	0.27080	T	0.196	0.27943	T	0.009	0.16265	B	0.005	0.11217	B	0.268355	0.03755	N	1.498590	1	0.08975	N	1.915	0.51223	L	4.08	0.03003	T	-0.89	0.24244	N	0.098	0.10198	-0.9386	0.42837	T	0.012	0.04700	T	10	0.014510423	0.00305	T	0.01066	0.27451	T	0.012	0.01476	.	.	0.302459207581	0.29844	0.3693415542369576	0.36848	1.68496477605	0.90047	0.299837529659	0.10377	T	0.04888	0.28145	T	-0.622706	0.00106	T	-0.707784	0.05411	T	0.00800865041764233	0.00095	T	0.384162	0.09403	T	0.11966172	0.28172	0.12049609	0.29079	0.11966172	0.28172	0.12049609	0.29078	-10.714	0.78168	D	.	.	0.082	0.09772	B	.;.;.;.	.;.;.;.	1.666736	0.21255	15.12	0.97700145347451328	0.35430	0.01479	0.04924	N	AEFDGI	0.087975	0.17836	N	-1.04781323074491	0.07630	0.3551145	-1.06090164867441	0.08480	0.4172077	0.998327720650218	0.36758	0.706548	0.73137	0	0.633656	0.55848	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	4.86	1.84	0.24348	0.106000	0.15191	-0.909000	0.06962	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1612:0.4985:0.3403:0.0	8.264	0.30959	878	0.29785	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	12994.8	33	chr20	1921614	.	G	A	12994.8	.	AC=2;AF=0.053;AN=38;DP=1192;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.72;QD=30.58;SOR=1.034	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1336	18	1	0	0
chr20	2102157	2102157	G	T	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G276T:p.K92N	.	444	1077	0	1	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.123382005749	.	0.000399361	0	0	0	0	.	0	0	0	0.0003458	9	26028	rs61729225	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	0.0003	0.0070	0	0	0	0.0002	0.0008	0	0.0006	0.0006	0.0006	0.0007	0.0003	0.0005	0.0005	0.0002	0.0002	9.67e-05	0.0265	0.0003	0.0110	0	0	0	0.0003	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.431	0.45421	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	-0.41	0.69413	T	-0.4	0.13805	N	0.103	0.08646	-0.9700	0.37200	T	0.132	0.44465	T	9	0.0056108832	0.00124	T	0.123382	0.80454	D	0.087	0.25287	0.247	0.18293	0.41887692313	0.41506	0.28925113197214736	0.28838	1.22219101905	0.81110	0.783463478088	0.79450	T	0.004216	0.03621	T	-0.19692	0.21249	T	-0.204483	0.54222	T	0.211089281212853	0.21010	T	0.519248	0.16884	T	0.14580125	0.33405	0.21765302	0.46439	0.14580125	0.33405	0.21765302	0.46438	-4.196	0.26694	T	.	.	0.271	0.50463	B	.	.	3.926164	0.57351	23.8	0.99437799724801235	0.64621	0.83146	0.42288	D	ALL	0.124665	0.24083	N	-0.0220197666820603	0.40860	2.433862	0.0289401435812989	0.41065	2.460921	0.999999999999765	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	2.98	0.33575	2.133000	0.41716	5.010000	0.46663	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.1347:0.0:0.8653:0.0	6.981	0.23883	806	0.43582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	33	chr20	2102157	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=763;ExcessHet=0;FS=0.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.6;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,963	18	0	1	0
chr20	2400304	2400304	A	C	splicing	TGM6	NM_198994:exon7:c.851-2A>C;NM_001254734:exon7:c.851-2A>C	.	.	Spinocerebellar ataxia 35, Autosomal dominant	1	1520	1	0	0	1	0.000328839	1.0000	0.926	.	985378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs748484145	6.157e-06	6.156e-06	2.722e-06	9.626e-06	1.159e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230249	0.76745	D	0.189814	0.82559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.921989	0.95916	35	0.99393354223083763	0.62428	0.99444	0.96106	D	AEFDBI	.	.	.	1.04080087616754	0.96868	15.25454	0.862150831096984	0.93705	12.22317	0.985094853363522	0.30828	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.975846	0.78896	4.6	4.6	0.56512	9.267000	0.94815	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	1.0:0.0:0.0:0.0	12.256	0.53943	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1558.33	36	chr20	2400304	.	A	C	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.377;DP=716;ExcessHet=0;FS=0.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.825;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chr20	2417475	2417475	T	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon10:c.T1580A:p.V527E,TGM6:NM_198994:exon10:c.T1580A:p.V527E	Spinocerebellar ataxia 35, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	344800	not_specified|Spinocerebellar_ataxia_type_35|not_provided	MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.459	.	0.0039	0.00419329	0.0013	0.0103	0.0013	0	0	0.0006	0.0012	0.0001	0.0013583	210	154602	rs61729226	0.0007	0.0007	0.0007	0.0007	0.0102	0.0007	0.0007	0.0094	0.0090	0.0102	0.0017	0.0042	0	0	0.0028	0.0004	0.0017	0.0001	0.0036	0.0036	0.0036	0.0036	0.0112	0.0033	0.0032	0.0104	0.0100	0.0112	0	0.0024	0.0020	0	0	0.0068	0.0003	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.986	0.67487	D	0.908	0.64984	P	0.011844	0.29379	N	0.350840	1	0.08975	N	2.78	0.81115	M	-0.85	0.74371	T	-4.98	0.82141	D	0.865	0.86191	-0.4565	0.70184	T	0.354	0.71758	T	10	0.0140167475	0.00296	T	.	.	.	0.459	0.75687	.	.	0.479744053436	0.47606	0.8021131404505326	0.80165	0.546546852902	0.51647	0.388485789299	0.23457	T	0.237669	0.60541	T	-0.316493	0.07189	T	-0.216366	0.53085	T	0.0340948156676485	0.02653	T	0.683732	0.29211	T	0.89398783	0.90852	0.9228025	0.96594	0.9392087	0.95167	0.9108342	0.95748	-10.819	0.79735	D	0.6476153857451677	0.71928	0.919	0.84099	P	.;.	.;.	4.184509	0.63024	24.5	0.98794281590475286	0.46349	0.58599	0.30685	D	AEFDBI	0.411984	0.48224	N	0.299671235360974	0.56134	3.777544	0.131654973048782	0.46177	2.868009	0.035671781280521	0.14211	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.581000	0.60661	7.878000	0.72341	0.665000	0.62972	0.386000	0.26055	1.000000	0.68203	0.464000	0.28207	0.0:0.0:0.0:1.0	10.435	0.43614	814	0.42100	Transglutaminase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.005051	0.013587	0.000000	0.050000	0.000000	0.000000	0.000000	0.05263	2633.81	45	chr20	2417475	.	T	A	2633.81	.	AC=2;AF=0.053;AN=38;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.93;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	1	0	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R,TGM6:NM_198994:exon13:c.G1995C:p.R665S	Spinocerebellar ataxia 35, Autosomal dominant	4	1470	45	3	0	51	0.0170512	.	.	.	349763	not_specified|not_provided|Spinocerebellar_ataxia_type_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009073	0.000000	0.009511	0.002924	0.000000	0.000000	0.015244	0.019084	0.02632	1507.33	71	chr20	2432517	.	G	C	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=1270;ExcessHet=0;FS=3.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.93;SOR=1.022	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1521,0,1865	18	0	1	0
chr20	2483871	2483871	C	T	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.G820A:p.E274K,ZNF343:NM_001282496:exon6:c.G1090A:p.E364K,ZNF343:NM_001321800:exon6:c.G1090A:p.E364K,ZNF343:NM_001321805:exon6:c.G1087A:p.E363K,ZNF343:NM_024325:exon6:c.G1090A:p.E364K,ZNF343:NM_001282495:exon7:c.G1090A:p.E364K,ZNF343:NM_001282497:exon7:c.G1213A:p.E405K,ZNF343:NM_001321801:exon7:c.G1213A:p.E405K,ZNF343:NM_001321802:exon7:c.G1210A:p.E404K,ZNF343:NM_001321803:exon7:c.G1210A:p.E404K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00155912576372	.	.	3.297e-05	0	8.654e-05	0.0003	0	0	0	0	2.59e-05	4	154602	rs767883222	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0.0002	0	0.0003	0	0	3.598e-06	1.656e-05	0	7.278e-05	7.243e-05	2.587e-05	0.0001	0.0007	3.998e-05	3.147e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	0	0	0	0.343	0.12592	T	0.751	0.04790	T	0.066	0.23586	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.625	0.02162	N	2.5	0.14408	T	-0.69	0.19720	N	0.049	0.05414	-0.9577	0.39608	T	0.013	0.04985	T	9	0.026978284	0.00852	T	0.001559	0.02471	T	0.003	0.00094	0.397	0.42426	0.0482279557977	0.04254	0.022436444128310456	0.02195	0.0921744073843	0.10406	0.326048433781	0.14336	T	0.002496	0.01884	T	-0.607447	0.00131	T	-0.790322	0.02156	T	0.0245517250571622	0.01215	T	0.223478	0.02897	T	0.02026135	0.00578	0.0391276	0.03936	0.02026135	0.00578	0.0391276	0.03936	-5.297	0.40572	T	.	.	0.777	0.76227	P	.;.;.	.;.;.	0.236068	0.06169	2.616	0.91339996048278294	0.20603	0.08532	0.14448	N	AEFDBCI	0.057267	0.10653	N	-1.63467126053778	0.01101	0.04780731	-1.73263039314685	0.01000	0.04482977	0.0325080474736485	0.14057	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.09	-6.18	0.01906	-4.755000	0.00220	-20.000000	0.00162	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1141:0.2781:0.5107:0.0972	5.666	0.16971	900	0.24599	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2971.33	34	chr20	2483871	.	C	T	2971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=880;ExcessHet=0;FS=3.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.564;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1417	18	0	1	0
chr20	2484096	2484096	G	A	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.C595T:p.R199C,ZNF343:NM_001282496:exon6:c.C865T:p.R289C,ZNF343:NM_001321800:exon6:c.C865T:p.R289C,ZNF343:NM_001321805:exon6:c.C862T:p.R288C,ZNF343:NM_024325:exon6:c.C865T:p.R289C,ZNF343:NM_001282495:exon7:c.C865T:p.R289C,ZNF343:NM_001282497:exon7:c.C988T:p.R330C,ZNF343:NM_001321801:exon7:c.C988T:p.R330C,ZNF343:NM_001321802:exon7:c.C985T:p.R329C,ZNF343:NM_001321803:exon7:c.C985T:p.R329C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00825103270275	7.7e-05	.	5.767e-05	9.615e-05	0	0.0005	0	0	0.0011	6.056e-05	4.53e-05	7	154602	rs187274947	1.642e-05	1.642e-05	5.445e-06	2.75e-05	0.0003	1.111e-05	9.33e-06	0.0002	0.0001	2.987e-05	0	0	0.0003	0	0	4.496e-06	4.967e-05	4.637e-05	3.284e-05	3.281e-05	2.571e-05	4.029e-05	0.0001	1.26e-05	7.98e-06	4.729e-05	3.047e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	2.895	0.83812	M	0.33	0.58323	T	-6.42	0.91268	D	0.271	0.36569	-0.5183	0.67977	T	0.355	0.71781	T	9	0.13139895	0.25009	T	0.008251	0.21853	T	0.153	0.40148	.	.	0.178374595973	0.17440	0.10207623683237783	0.10137	0.422359933901	0.42741	0.212258458138	0.00911	T	0.064534	0.32460	T	-0.360388	0.04108	T	-0.446582	0.28074	T	0.429461948801847	0.30040	T	0.331367	0.06940	T	0.32272342	0.54869	0.26521003	0.52351	0.32272342	0.54869	0.26521003	0.52350	-8.554	0.64785	D	.	.	0.479	0.63993	A	.;.;.	.;.;.	1.094201	0.14780	11.32	0.97842559942884944	0.36338	0.04027	0.09462	N	AEFBCI	0.028178	0.02435	N	-0.904426520383539	0.10738	0.5146026	-1.30474803343809	0.04368	0.2058935	0.380138491996563	0.19953	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.45	-4.9	0.02866	-2.871000	0.00789	-11.883000	0.00567	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.1483:0.0:0.4976:0.3541	6.889	0.23399	900	0.24599	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2148.33	34	chr20	2484096	.	G	A	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=809;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.636;SOR=0.76	GT:AD:DP:GQ:PL	0/1:84,74:158:99:2162,0,2288	18	0	1	0
chr20	2655369	2655369	A	G	exonic	NOP56	.	nonsynonymous SNV	NOP56:NM_006392:exon6:c.A614G:p.N205S	Spinocerebellar ataxia 36, Autosomal dominant	0	1500	22	0	0	22	0.00727995	.	.	.	2827047	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0114594390754	0.0002	0.000998403	0.0009	0	0.0002	0	0	0.0005	0	0.0047	0.000815	126	154602	rs138832466	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0044	0.0001	0.0002	0.0056	5.038e-05	0	0.0042	7.914e-05	0.0010	0.0049	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0004	0.0043	0.0037	2.407e-05	0	0.0002	0.0040	0.0002	0	0.0068	0.0003	0.0009	0.0060	0.614	0.05404	T	1.0	0.04686	T	0.015	0.17086	B	0.048	0.24975	B	0.017468	0.27716	N	0.410849	0.999673	0.20721	N	0.315	0.10303	N	-1.56	0.81815	D	0.0	0.07008	N	0.089	0.06720	-0.9382	0.42900	T	0.252	0.62131	T	10	0.010513991	0.00234	T	0.011459	0.29107	T	0.130	0.35528	.	.	0.258436476835	0.25460	0.18245670462505426	0.18164	0.197761165216	0.22142	0.428429752588	0.28994	T	0.056473	0.30297	T	-0.486148	0.00682	T	-0.470553	0.25457	T	0.0145655771288582	0.00298	T	0.931607	0.74555	D	0.037675794	0.04875	0.0235069	0.00364	0.035200875	0.04098	0.024641378	0.00487	-1.086	0.01099	T	.	.	0.044	0.02927	B	.;.	.;.	1.857764	0.23599	16.08	0.7672857164349618	0.11585	0.73387	0.35898	D	AEFDBHCI	0.251288	0.37118	N	-0.498447047202411	0.22132	1.179593	-0.316511520986136	0.27565	1.530454	0.999999163192992	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.69	2.27	0.27501	1.913000	0.39587	2.658000	0.33861	0.756000	0.94297	0.792000	0.29619	0.909000	0.28100	0.945000	0.48827	0.6084:0.163:0.2286:0.0	4.508	0.11304	764	0.49969	Nop domain|NOSIC;Nop domain|NOSIC	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.005051	0.002717	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2108.33	37	chr20	2655369	.	A	G	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=811;ExcessHet=0;FS=7.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.267;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr20	2839847	2839847	C	A	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon2:c.G66T:p.Q22H,PCED1A:NM_022760:exon2:c.G66T:p.Q22H	.	422	1085	14	1	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0013	0.0101837	0.0050	0.0023	0.0060	0.0035	0	0.0010	0.0055	0.0247	0.0046571	720	154602	rs2274670	0.0029	0.0029	0.0022	0.0035	0.0233	0.0028	0.0028	0.0225	0.0221	0.0029	0.0047	0.0007	0.0117	5.617e-05	0.0113	0.0010	0.0046	0.0233	0.0024	0.0025	0.0021	0.0028	0.0269	0.0022	0.0022	0.0232	0.0217	0.0019	0	0.0044	0.0003	0.0048	0	0.0238	0.0008	0.0038	0.0269	0.571	0.06735	T	0.579	0.34241	T	0.003	0.11197	B	0.011	0.15521	B	0.071709	0.21456	N	0.393509	0.989646	0.24271	N	0.755	0.19153	N	2.29	0.17113	T	-1.48	0.36189	N	0.269	0.31478	-1.0191	0.24008	T	0.011	0.03949	T	10	0.005336851	0.00117	T	.	.	.	0.058	0.16647	0.098	0.01383	0.176091768786	0.17195	0.5335976196822014	0.53284	0.388599313897	0.40119	0.558968782425	0.47123	T	0.019843	0.15731	T	-0.614315	0.00119	T	-0.636944	0.09893	T	0.00850352427745692	0.00103	T	0.373463	0.09662	T	0.05243454	0.09778	0.07801061	0.17431	0.05243454	0.09777	0.07801061	0.17431	-6.448	0.54405	T	.	.	0.109	0.35992	B	.;.;.;.	.;.;.;.	1.760878	0.22396	15.60	0.99080308413867779	0.51954	0.38033	0.25897	N	AEFDGBCI	0.155415	0.28061	N	-0.484686534848767	0.22582	1.206819	-0.375400019649371	0.25732	1.416937	0.999999777499574	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.493711	0.08198	1	0.562822	0.20929	0	.	.	3.83	0.993	0.18943	-0.018000	0.12508	0.205000	0.15895	0.599000	0.40250	0.814000	0.29906	0.975000	0.29991	0.995000	0.73285	0.2039:0.4247:0.183:0.1884	1.010	0.01402	462	0.78611	.;.;.;.	.	.	.	.	rs2274670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017120	0.035354	0.017663	0.014620	0.000000	0.025862	0.000000	0.015152	0.02632	2391.33	35	chr20	2839847	.	C	A	2391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.935;DP=832;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.861;SOR=0.666	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	18	0	1	0
chr20	2860849	2860849	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_022575:exon6:c.G616A:p.A206T,VPS16:NM_080413:exon6:c.G616A:p.A206T	.	428	1079	14	1	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0011	0.0103834	0.0050	0.0023	0.0060	0.0035	0	0.0010	0.0066	0.0247	0.0045924	710	154602	rs116927511	0.0029	0.0029	0.0022	0.0035	0.0233	0.0028	0.0028	0.0224	0.0221	0.0027	0.0047	0.0003	0.0117	5.627e-05	0.0120	0.0010	0.0045	0.0233	0.0025	0.0025	0.0021	0.0028	0.0269	0.0023	0.0022	0.0231	0.0217	0.0019	0	0.0044	0	0.0050	0	0.0238	0.0009	0.0038	0.0269	0.676	0.04588	T	0.639	0.14412	T	0.023	0.18885	B	0.008	0.13708	B	0.014494	0.28517	N	0.432061	0.989979	0.24230	N	0.77	0.19370	N	1.0	0.42502	T	0.64	0.04380	N	0.107	0.09207	-1.0599	0.11781	T	0.025	0.10910	T	10	0.0053527653	0.00117	T	.	.	.	0.056	0.15993	.	.	0.362960570912	0.35913	0.24844411409874928	0.24758	0.207235478555	0.23175	0.30611550808	0.11320	T	0.026551	0.19627	T	-0.547009	0.00304	T	-0.540263	0.18270	T	0.000687076473209285	0.00006	T	0.752925	0.41194	T	0.011631174	0.00020	0.031767823	0.01813	0.012516641	0.00035	0.03398357	0.02385	-4.234	0.27241	T	.	.	0.064	0.04723	B	.;.;.;.	.;.;.;.	0.274372	0.06519	2.999	0.66317106087894573	0.08023	0.10402	0.15919	N	AEFDBI	0.081888	0.16576	N	-1.07019382546567	0.07197	0.3336245	-1.07550188387464	0.08184	0.4013015	0.0267623629231691	0.13733	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.95	-1.55	0.08105	0.213000	0.17310	0.740000	0.21154	-0.113000	0.14837	0.032000	0.20554	0.060000	0.22018	0.310000	0.24737	0.3943:0.0:0.3629:0.2428	4.289	0.10316	471	0.78036	Vps16, N-terminal;.;Vps16, N-terminal;Vps16, N-terminal	.	.	.	.	rs116927511	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.018630	0.040404	0.020380	0.014620	0.000000	0.025862	0.000000	0.011364	0.02632	2411.33	43	chr20	2860849	.	G	A	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.717;DP=858;ExcessHet=0;FS=0.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.815;SOR=0.775	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1321	18	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R	.	429	1043	45	5	0	55	0.0256889	.	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015609	0.015152	0.023098	0.020468	0.000000	0.017241	0.006098	0.011364	0.05263	4294.83	35	chr20	2865406	.	T	C	4294.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.026;DP=933;ExcessHet=0.119;FS=5.899;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.446;SOR=0.463	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	17	0	2	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T,VPS16:NM_022575:exon22:c.G2197A:p.A733T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1437.33	35	chr20	2865421	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.303;DP=759;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.816;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr20	2948007	2948007	A	G	exonic	PTPRA	.	nonsynonymous SNV	PTPRA:NM_001385316:exon3:c.A53G:p.N18S	.	636	873	13	0	0	13	0.00739056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0073	0.0053	0	0	.	0.0051	0	0.0084	0.0007374	114	154602	rs569471159	0.0013	0.0011	0.0011	0.0016	0.0113	0.0013	0.0013	0.0087	0.0077	0.0001	0.0026	0.0070	0	0.0002	0.0113	0.0007	0.0021	0.0067	0.0017	0.0017	0.0017	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0004	0	0.0042	0.0104	0	0	0.0204	0.0013	0.0047	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	48.56	.	chr20	2948007	.	A	G	48.56	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=60;QD=24.28;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	16
chr20	3044684	3044684	G	A	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon3:c.G160A:p.A54T,GNRH2:NM_001501:exon3:c.G160A:p.A54T	.	423	1082	16	1	0	18	0.00824931	.	.	.	716895	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.006	.	0.0086	0.0165735	0.0075	0.0279	0.0075	0.0038	0	0.0011	0.0076	0.0250	0.0064553	998	154602	rs61729220	0.0034	0.0034	0.0029	0.0040	0.0251	0.0034	0.0033	0.0237	0.0231	0.0251	0.0060	0.0003	0.0117	5.684e-05	0.0143	0.0010	0.0059	0.0223	0.0087	0.0088	0.0084	0.0091	0.0242	0.0084	0.0082	0.0229	0.0224	0.0242	0	0.0062	0	0.0048	0	0.0238	0.0009	0.0099	0.0238	0.211	0.19569	T	0.346	0.17696	T	0.025	0.19245	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	0.23	0.04613	N	0.121	0.11197	-1.0469	0.15274	T	0.023	0.09696	T	9	0.0025749207	0.00039	T	.	.	.	0.006	0.00375	.	.	0.0954503805726	0.09146	0.03175787833307577	0.03124	0.0431863063753	0.04650	0.412202715874	0.26761	T	0.044836	0.26936	T	-0.586809	0.00175	T	-0.596763	0.13085	T	0.00688755399468921	0.00078	T	0.412859	0.10744	T	0.033937883	0.03713	0.066301435	0.13561	0.033937883	0.03713	0.066301435	0.13561	-4.46	0.30362	T	.	.	0.076	0.05890	B	.	.	0.299091	0.06751	3.262	0.98633480010112773	0.43947	0.07303	0.13325	N	AEFDBCI	0.030129	0.02974	N	-1.28849221348319	0.03813	0.1710038	-1.33034163160204	0.04043	0.1898865	0.99999864656081	0.74766	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	3.89	-1.64	0.07874	0.415000	0.20901	0.500000	0.18986	-0.135000	0.12811	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	0.5565:0.0:0.4435:0.0	7.301	0.25593	830	0.39242	.	.	.	.	.	rs61729220	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019797	0.040816	0.019126	0.020588	0.000000	0.025862	0.000000	0.011364	0.02632	791.33	41	chr20	3044684	.	G	A	791.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.731;DP=696;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.015;SOR=0.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	18	0	1	0
chr20	3115382	3115382	G	A	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon4:c.C1340T:p.A447V,UBOX5:NM_014948:exon4:c.C1340T:p.A447V	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.011253645762	.	.	0.0001	0	8.654e-05	0	0	1.501e-05	0	0.0010	0.0001164	18	154602	rs772740134	5.13e-05	5.13e-05	2.314e-05	7.976e-05	0.0008	4.192e-05	3.823e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0008	2.625e-05	2.624e-05	1.284e-05	4.026e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.048	0.40068	D	0.078	0.42261	T	0.335	0.33330	B	0.086	0.29521	B	0.016360	0.28001	U	0.363355	1	0.27573	N	2.43	0.70455	M	1.4	0.33630	T	-0.74	0.20791	N	0.421	0.46086	-1.0036	0.28874	T	0.052	0.22230	T	10	0.07713401	0.12136	T	0.011254	0.28682	T	0.095	0.27398	0.194	0.10571	0.654990179022	0.65211	0.320733589615957	0.31986	0.309576127487	0.33265	0.411465287209	0.26660	T	0.064101	0.32346	T	-0.403989	0.02180	T	-0.409427	0.32290	T	0.181404727298325	0.19323	T	0.873613	0.58243	D	0.11964803	0.28170	0.14453784	0.34311	0.11964803	0.28169	0.14453784	0.34310	-5.19	0.38840	T	.	.	0.112	0.22098	B	.	.	3.789532	0.54539	23.5	0.99705079586826517	0.80936	0.41790	0.26735	N	AEFDBCI	0.377566	0.46129	N	-0.164523187260149	0.34619	1.978176	-0.0133347503900461	0.39112	2.314119	0.999783625481792	0.43007	0.696267	0.57585	0	0.613122	0.52510	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.01	3.99	0.45527	5.606000	0.67324	9.639000	0.81144	0.614000	0.49286	0.968000	0.34134	1.000000	0.68203	0.990000	0.65344	0.0:0.1388:0.8612:0.0	16.969	0.86166	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1359.33	33	chr20	3115382	.	G	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.459;DP=695;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-1.238;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1206:.	18	0	1	0
chr20	3115383	3115383	C	A	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon4:c.G1339T:p.A447S,UBOX5:NM_014948:exon4:c.G1339T:p.A447S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00597247294011	.	.	0.0001	0	8.654e-05	0	0	1.501e-05	0	0.0010	0.0001164	18	154602	rs760437668	5.131e-05	5.13e-05	2.314e-05	7.976e-05	0.0008	4.192e-05	3.823e-05	0.0007	0.0006	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0008	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.403	0.10378	T	0.871	0.03305	T	0.038	0.21002	B	0.015	0.17295	B	0.016360	0.28001	U	0.363355	1	0.29624	N	2.085	0.57729	M	1.58	0.29085	T	0.39	0.03521	N	0.116	0.10483	-1.0638	0.10831	T	0.036	0.15553	T	10	0.016915143	0.00358	T	0.005972	0.15579	T	0.023	0.04649	0.17	0.07536	0.357724736475	0.35387	0.19993786233829466	0.19910	0.244798543081	0.26991	0.375321060419	0.21591	T	0.02517	0.18872	T	-0.482366	0.00716	T	-0.52201	0.20090	T	0.0802052989602089	0.10013	T	0.711729	0.32279	T	0.059137914	0.11982	0.06229894	0.12166	0.059137914	0.11982	0.06229894	0.12166	-2.221	0.04143	T	.	.	0.075	0.05579	B	.	.	1.039606	0.14203	10.78	0.95413955803996142	0.26883	0.07794	0.13790	N	AEFDBCI	0.063557	0.12291	N	-0.69140642771391	0.16266	0.8271452	-0.556641108318916	0.20629	1.112336	0.999648679704907	0.41316	0.696267	0.57585	0	0.613122	0.52510	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.01	3.07	0.34476	0.176000	0.16596	-0.345000	0.09787	0.545000	0.25583	0.024000	0.20007	0.000000	0.08366	0.989000	0.64315	0.0:0.8431:0.0:0.1569	10.561	0.44335	623	0.65786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1359.33	33	chr20	3115383	.	C	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.549;DP=694;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-1.248;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1206:.	18	0	1	0
chr20	3166821	3166821	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.G343A:p.V115M,LZTS3:NM_001365618:exon3:c.G343A:p.V115M,LZTS3:NM_001367609:exon3:c.G433A:p.V145M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00523131200655	7.7e-05	.	0.0001	0	0	0	0	6.039e-05	0	0.0006	9.7e-05	15	154602	rs376730031	9.715e-05	9.714e-05	8.169e-05	0.0001	0.0008	8.378e-05	7.917e-05	0.0006	0.0006	8.961e-05	0	0	0	0	0.0003	5.845e-05	8.28e-05	0.0008	3.942e-05	3.94e-05	2.569e-05	5.379e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0.0005	0	0.074	0.34621	T	0.256	0.23298	T	0.27	0.34565	B	0.007	0.17743	B	0.006457	0.32025	N	0.304109	0.880044	0.35732	D	0.255	0.09829	N	1.45	0.32958	T	-0.5	0.15986	N	0.118	0.29081	-1.0227	0.22834	T	0.036	0.15465	T	10	0.053254485	0.05488	T	0.005231	0.13341	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.23191861109312462	0.23106	0.709073103648	0.61589	0.785390377045	0.79743	T	0.018776	0.15074	T	-0.403431	0.02198	T	-0.481018	0.24338	T	0.0544478129953389	0.06266	T	0.831017	0.49863	T	0.08646443	0.20098	0.086195394	0.19954	0.08646443	0.20098	0.086195394	0.19953	-4.676	0.33185	T	.	.	0.104	0.29450	B	.;.;.;.	.;.;.;.	3.188703	0.43316	21.7	0.99811085876111094	0.89531	0.31517	0.24357	N	AEFDBI	0.106819	0.21300	N	-0.328624870991123	0.28066	1.544927	-0.20322451481054	0.31419	1.778007	0.850506521342715	0.25035	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	4.66	3.48	0.38946	1.895000	0.39411	2.134000	0.30799	0.599000	0.40250	0.869000	0.30776	0.975000	0.29991	0.945000	0.48827	0.0:0.9098:0.0:0.0902	13.642	0.61730	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	637.33	41	chr20	3166821	.	C	T	637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=724;ExcessHet=0;FS=1.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.983;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	18	0	1	0
chr20	3167072	3167072	G	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.C92T:p.P31L,LZTS3:NM_001365618:exon3:c.C92T:p.P31L,LZTS3:NM_001367609:exon3:c.C182T:p.P61L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00597474206731	.	.	1.948e-05	0	0	0	0	3.32e-05	0	0	1.94e-05	3	154602	rs747917573	4.073e-05	4.036e-05	3.945e-05	4.204e-05	7.403e-05	3.183e-05	2.906e-05	2.989e-05	2.656e-05	0	7.403e-05	0	2.606e-05	0	0	3.968e-05	0.0001	5.011e-05	4.598e-05	4.596e-05	3.852e-05	5.378e-05	0.0002	2.108e-05	1.526e-05	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	4.409e-05	0	0.0002	0.006	0.61437	D	0.681	0.06090	T	0.113	0.29046	B	0.003	0.12133	B	0.025721	0.26038	N	0.301489	0.936208	0.37147	D	1.055	0.26876	L	1.46	0.33189	T	-1.12	0.29114	N	0.226	0.42541	-1.0698	0.09458	T	0.043	0.18410	T	10	0.08103785	0.13220	T	0.005975	0.15579	T	0.027	0.05988	0.172	0.07774	0.0934897674506	0.08844	0.2794708193569957	0.27860	0.724291056453	0.62381	0.67619997263	0.63725	T	0.020133	0.15906	T	-0.25772	0.13167	T	-0.418237	0.31278	T	0.129212857409326	0.15309	T	0.875312	0.58632	D	0.07701066	0.17452	0.06169002	0.11951	0.07701066	0.17452	0.06169002	0.11950	-3.708	0.19925	T	.	.	0.091	0.16231	B	.;.;.;.	.;.;.;.	5.053966	0.84195	28.2	0.99881850624854218	0.95813	0.93840	0.59343	D	AEFDBI	0.327649	0.42855	N	-0.096527737177095	0.37543	2.185814	0.0699892430801246	0.43047	2.614718	0.999562796727197	0.40425	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.46	4.46	0.53567	2.410000	0.44245	9.570000	0.81009	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.977000	0.56843	0.0:0.191:0.6389:0.1701	7.799	0.28326	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	931.33	41	chr20	3167072	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.006;DP=955;ExcessHet=0;FS=2.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.664;SOR=0.392	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	18	0	1	0
chr20	3230195	3230195	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_001363745:exon12:c.C1367T:p.T456M,SLC4A11:NM_032034:exon12:c.C1529T:p.T510M,SLC4A11:NM_001174089:exon13:c.C1481T:p.T494M,SLC4A11:NM_001174090:exon13:c.C1610T:p.T537M	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2692537	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0222566963398	7.7e-05	.	8.288e-06	0	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs369474430	6.228e-05	6.225e-05	6.673e-05	5.778e-05	0.0021	5.163e-05	4.782e-05	0.0012	0.0009	0	4.472e-05	0	0	3.789e-05	0.0021	6.565e-05	1.656e-05	1.159e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.655	0.20532	T	0.189	0.29442	T	0.047	0.21998	B	0.036	0.22909	B	0.006410	0.32054	N	0.364295	0.966066	0.26770	N	-1.565	0.00454	N	-1.06	0.76819	T	0.22	0.04694	N	0.326	0.37405	-0.9384	0.42869	T	0.187	0.53707	T	10	0.081546366	0.13360	T	0.022257	0.45130	T	0.136	0.36778	.	.	0.690109902506	0.68745	0.5226834551734788	0.52191	0.312276279515	0.33530	0.293511271477	0.09437	T	0.133064	0.46353	T	-0.170854	0.25106	T	-0.37554	0.36242	T	0.0724830814877039	0.08995	T	0.659134	0.31399	T	0.019762639	0.00514	0.040856495	0.04512	0.019762639	0.00513	0.040856495	0.04512	3.853	0.00010	T	0.12874576453410774	0.13370	0.052	0.00436	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.540836	0.19760	14.42	0.34822510656738742	0.02151	0.17652	0.19929	N	AEFBI	0.044270	0.07102	N	-0.770957176341092	0.14071	0.6979948	-0.582953371294263	0.19937	1.071958	0.999671799121811	0.41644	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.21	4.11	0.47350	3.557000	0.53487	2.302000	0.32024	-0.040000	0.17491	0.998000	0.41325	0.993000	0.31925	0.807000	0.38039	0.8521:0.0:0.1479:0.0	9.389	0.37524	458	0.78890	Bicarbonate transporter, C-terminal;.;.;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	560.33	34	chr20	3230195	.	G	A	560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=692;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.173;SOR=0.577	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	18	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V,SLC4A11:NM_001174089:exon8:c.C893T:p.A298V,SLC4A11:NM_001174090:exon8:c.C1022T:p.A341V,SLC4A11:NM_001363745:exon8:c.C893T:p.A298V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	350834	Corneal_dystrophy|not_specified|not_provided|Corneal_dystrophy-perceptive_deafness_syndrome	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05263	4521.83	220	chr20	3231385	.	G	A	4521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.579;DP=1079;ExcessHet=0.119;FS=5.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.174;SOR=0.699	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	17	0	2	0
chr20	3340557	3340557	C	T	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon10:c.G928A:p.E310K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0212918308993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	2.18	0.18875	T	-1.32	0.32991	N	0.899	0.89912	-0.8338	0.53055	T	0.217	0.57954	T	10	0.7940029	0.78907	D	0.021292	0.44035	T	0.202	0.48754	0.287	0.24601	0.760227436513	0.75805	0.5390313669186647	0.53828	0.54065144501	0.51256	.	.	.	0.036998	0.24313	T	0.145525	0.68847	D	-0.02874	0.68453	D	0.815083861509606	0.47412	D	0.949705	0.80662	D	0.22252333	0.44853	0.21964212	0.46710	0.22252333	0.44853	0.21964212	0.46709	-3.506	0.16515	T	.	.	0.426	0.60973	A	.	.	5.041040	0.83904	28.2	0.99938091365708326	0.99698	0.96525	0.69575	D	AEFDBIJ	0.679778	0.64369	D	0.782943909733222	0.85029	8.455585	0.792406322172012	0.89260	9.902809	0.99999999999848	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.706000	0.74474	7.566000	0.60594	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.883	0.96902	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	33	chr20	3340557	.	C	T	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=768;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.538;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	18	0	1	0
chr20	3471222	3471222	G	T	exonic	ATRN	.	nonsynonymous SNV	ATRN:NM_001323332:exon1:c.G115T:p.G39W,ATRN:NM_139321:exon1:c.G115T:p.G39W,ATRN:NM_139322:exon1:c.G115T:p.G39W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.4414918586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.27194	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.336852	0.04164	N	1.548580	1	0.08975	N	0.205	0.09354	N	3.4	0.05642	T	-0.15	0.09297	N	0.186	0.21710	-0.9687	0.37468	T	0.012	0.04510	T	10	0.1323534	0.25190	T	0.441492	0.94173	D	0.083	0.24192	0.318	0.29581	0.158540857583	0.15491	0.24477019489842114	0.24391	0.86422399238	0.69122	0.858168244362	0.90841	D	0.062354	0.31893	T	-0.248775	0.14249	T	-0.595124	0.13224	T	0.281575232744217	0.24237	T	0.50395	0.15873	T	0.05374268	0.10214	0.04589341	0.06274	0.05374268	0.10214	0.04589341	0.06274	-5.208	0.39023	T	.	.	0.195	0.41678	B	.;.	.;.	3.275727	0.44858	22.0	0.84869712429925248	0.15546	0.77845	0.38324	D	ALL	0.162578	0.28876	N	-0.60823468640489	0.18695	0.9727201	-0.503421117689414	0.22059	1.196346	0.999999948825638	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.92	2.84	0.32241	1.380000	0.33958	5.621000	0.49085	0.544000	0.25403	0.344000	0.25709	1.000000	0.68203	0.035000	0.13729	0.0844:0.1458:0.6089:0.1609	4.831	0.12805	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	705.33	30	chr20	3471222	.	G	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.073;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.61;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	18	0	1	0
chr20	3559439	3559439	A	G	exonic	ATRN	.	nonsynonymous SNV	ATRN:NM_001207047:exon7:c.A811G:p.N271D,ATRN:NM_001323332:exon7:c.A1159G:p.N387D,ATRN:NM_139321:exon7:c.A1159G:p.N387D,ATRN:NM_139322:exon7:c.A1159G:p.N387D	.	434	1078	10	0	0	10	0.00461681	.	.	.	2091533	not_provided|ATRN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.024463389476	.	0.000798722	0.0007	0	0	0	0	0.0001	0.0011	0.0048	0.0006015	93	154602	rs531512993	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0	0	0	2.52e-05	0	0.0030	5.306e-05	0.0004	0.0044	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	2.406e-05	0	0	0.0003	0	0	0.0068	4.41e-05	0.0009	0.0039	0.608	0.05551	T	0.623	0.16280	T	0.006	0.47975	B	0.017	0.43987	B	0.000127	0.49741	D	0.191165	0.996318	0.43134	D	1.335	0.33326	L	-0.7	0.72785	T	-1.25	0.31576	N	0.339	0.42050	-0.8320	0.53172	T	0.194	0.54768	T	10	0.006356716	0.00144	T	0.024463	0.47448	T	0.095	0.27398	0.536	0.64585	0.686209328023	0.68352	0.733012885033648	0.73246	0.131608955516	0.14841	0.605303168297	0.53654	T	0.10725	0.41929	T	-0.446242	0.01188	T	-0.413368	0.31838	T	0.0583736982402728	0.06910	T	0.79512	0.43772	T	0.14990978	0.34154	0.13721278	0.32804	0.14990978	0.34153	0.13721278	0.32803	-7.212	0.55568	T	.	.	0.094	0.22171	B	.;.	.;.	3.777652	0.54301	23.5	0.98790072508794102	0.46269	0.96038	0.67252	D	AEFDGI	0.836707	0.75443	D	-0.00606071126639262	0.41580	2.489643	0.157967801877593	0.47564	2.984879	0.999934785433428	0.46732	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	5.989000	0.70262	9.333000	0.80149	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	14.559	0.67711	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1084.33	34	chr20	3559439	.	A	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=730;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.087;SOR=0.794	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1098,0,1531	18	0	1	0
chr20	3689600	3689600	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon19:c.G4997A:p.S1666N,SIGLEC1:NM_023068:exon20:c.G4997A:p.R1666K	.	.	.	.	.	.	.	.	0.9998	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00558120154617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388319827	2.114e-06	2.052e-06	4.184e-06	0	2.753e-06	5.6e-07	1.6e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.753e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.121	0.35840	T	0.02	0.18235	B	0.008	0.13708	B	0.087986	0.20504	N	0.357050	0.677953	0.30305	N	2.005	0.54552	M	1.92	0.23082	T	-0.55	0.16799	N	0.352	0.39356	-1.0761	0.08124	T	0.047	0.19958	T	9	0.19876918	0.35859	T	0.005581	0.14409	T	0.065	0.18881	.	.	0.298056030225	0.29408	0.5648952838145479	0.56416	0.16594407476	0.18725	0.3542316854	0.18543	T	0.157618	0.50029	T	-0.169664	0.25285	T	-0.481487	0.24288	T	0.422787249088287	0.29793	T	0.416558	0.10945	T	0.16884571	0.37366	0.17738004	0.40337	0.16884571	0.37366	0.17738004	0.40336	-5.386	0.40785	T	.	.	0.138	0.30157	B	.	.	4.790482	0.77735	26.8	0.98017328519311553	0.37605	0.69381	0.34165	D	AEFBI	0.410811	0.48154	N	-0.0621639021197246	0.39061	2.297497	0.0468568895962337	0.41920	2.526657	0.134972553247536	0.17164	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.39	4.43	0.52967	2.259000	0.42914	5.435000	0.48604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.9063:0.0:0.0937	10.56	0.44329	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	34	chr20	3689600	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=679;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=0.352;SOR=0.515	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr20	3691963	3691963	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon16:c.G4270A:p.V1424I,SIGLEC1:NM_023068:exon17:c.G4270A:p.V1424I	.	419	1080	21	2	0	25	0.0114416	.	.	.	3886763	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00695892261107	0.0003	0.000599042	0.0015	0	0.0014	0	0.0002	0.0007	0.0012	0.0079	0.001229	190	154602	rs144731228	0.0007	0.0007	0.0005	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.97e-05	0.0009	0.0014	0	5.666e-05	0.0056	0.0003	0.0010	0.0066	0.0005	0.0005	0.0004	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	7.214e-05	0	0.0004	0.0032	0	0	0	0.0005	0.0009	0.0046	0.188	0.21304	T	0.129	0.34837	T	0.461	0.36363	P	0.198	0.36766	B	0.007089	0.31607	N	0.000000	1	0.08975	N	2.445	0.70938	M	-0.84	0.74265	T	-0.59	0.17624	N	0.126	0.11912	-0.9288	0.44313	T	0.237	0.60451	T	10	0.016245484	0.00342	T	0.006959	0.18430	T	0.062	0.17934	.	.	0.515715180578	0.51213	0.2713487320857088	0.27047	0.100562252619	0.11360	0.301368027925	0.10604	T	0.140385	0.47489	T	-0.396801	0.02430	T	-0.339168	0.40438	T	0.0228621694349523	0.01008	T	0.658834	0.26791	T	0.034762133	0.03964	0.06887202	0.14438	0.034762133	0.03964	0.06887202	0.14437	-4.18	0.26461	T	.	.	0.094	0.14293	B	.	.	0.796724	0.11672	8.255	0.98271251921187142	0.39759	0.02123	0.06271	N	AEFDBI	0.078947	0.15938	N	-0.617385350791024	0.18421	0.9562908	-0.64071132920006	0.18452	0.9857397	0.0352354901228305	0.14191	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.61	1.14	0.19817	-0.472000	0.06702	-1.231000	0.05960	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.715000	0.34611	0.0:0.4689:0.3444:0.1867	5.285	0.15004	720	0.55521	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	1275.33	35	chr20	3691963	.	C	T	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.555;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	0	1	0
chr20	3692005	3692005	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon16:c.C4228T:p.R1410W,SIGLEC1:NM_023068:exon17:c.C4228T:p.R1410W	.	418	1103	1	0	0	1	0.000453104	.	.	.	2758033	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0143401279397	.	0.000199681	0.0001	0	0.0004	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs200539652	5.612e-05	5.814e-05	5.856e-05	5.366e-05	0.0010	4.612e-05	4.238e-05	0.0005	0.0003	0	8.95e-05	3.827e-05	2.519e-05	0	0.0010	5.037e-05	6.624e-05	0.0001	4.594e-05	4.593e-05	6.423e-05	2.684e-05	0.0002	2.107e-05	1.525e-05	1.972e-05	1.124e-05	2.404e-05	0	6.532e-05	0	0.0002	0	0	5.88e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.118745	0.19102	N	0.279293	0.670265	0.30370	N	2.675	0.78361	M	-0.89	0.74793	T	-2.89	0.60665	D	0.372	0.41360	-0.8315	0.53204	T	0.162	0.49814	T	10	0.47027332	0.59819	T	0.01434	0.34391	T	0.425	0.73299	.	.	0.481764910267	0.47805	0.6426243454868312	0.64197	0.141425842094	0.15943	0.295264065266	0.09697	T	0.542847	0.84378	D	-0.152441	0.27929	T	-0.177312	0.56770	T	0.44066110253334	0.30454	T	0.883212	0.60517	D	0.11380329	0.26873	0.10166563	0.24345	0.11380329	0.26873	0.10166563	0.24345	-7.597	0.58290	D	.	.	0.085	0.10256	B	.	.	2.843248	0.37519	20.5	0.99902239160485817	0.97350	0.11494	0.16671	N	AEFDBI	0.382696	0.46449	N	-0.30833181677038	0.28830	1.593545	-0.415831426774459	0.24532	1.343906	0.0356875802711489	0.14211	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.5	1.17	0.19998	-0.593000	0.05835	-0.171000	0.11226	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1719:0.0:0.4818:0.3463	4.429	0.10944	720	0.55521	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1030.33	35	chr20	3692005	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=691;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.517;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	0	1	0
chr20	3698028	3698028	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon8:c.C1892T:p.P631L,SIGLEC1:NM_023068:exon9:c.C1892T:p.P631L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	0.0438471854021	.	.	9.009e-06	0	0	0	0	0	0.0012	0	6.5e-06	1	154602	rs752322631	8.231e-06	8.893e-06	5.459e-06	1.103e-05	0.0002	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	9.004e-06	0	1.163e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.13	0.26740	T	0.006	0.70582	D	0.999	0.77913	D	0.989	0.78396	D	0.001631	0.38439	N	0.000000	0.999994	0.58761	D	2.455	0.71248	M	-0.85	0.74371	T	-4.74	0.80172	D	0.614	0.63035	-0.1096	0.79877	T	0.495	0.80854	T	10	0.79545546	0.79029	D	0.043847	0.61191	D	0.450	0.75074	.	.	0.874491612021	0.87326	0.5795085272035632	0.57879	0.538619484499	0.51112	0.470827311277	0.34794	T	0.550861	0.84790	D	0.0211935	0.54541	T	-0.0948427	0.63794	T	0.942915380001068	0.61757	D	0.784922	0.42251	T	0.08976682	0.20985	0.14501369	0.34407	0.08976682	0.20985	0.14501369	0.34406	-5.658	0.43318	T	.	.	0.137	0.29833	B	.	.	4.667643	0.74564	26.2	0.99871291817536523	0.94902	0.15892	0.19132	N	AEFDBI	0.173273	0.30035	N	0.340096528463589	0.58220	3.992909	0.255897882128519	0.52984	3.469896	0.583250427383192	0.21588	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	0.934000	0.28510	5.014000	0.46692	0.676000	0.76740	0.053000	0.21524	1.000000	0.68203	0.399000	0.26759	0.0:0.0:0.8198:0.1802	11.389	0.49043	740	0.53092	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1141.33	34	chr20	3698028	.	G	A	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=2;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr20	3748364	3748364	C	T	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon7:c.C565T:p.R189C,HSPA12B:NM_001197327:exon8:c.C820T:p.R274C,HSPA12B:NM_052970:exon8:c.C823T:p.R275C	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.00791553771423	0.0008	0.000399361	0.0012	0	0.0011	0	0	0.0016	0.0027	0.0010	0.0009444	146	154602	rs139111180	0.0008	0.0008	0.0008	0.0009	0.0058	0.0008	0.0008	0.0042	0.0037	0.0002	0.0015	0.0036	5.111e-05	3.858e-05	0.0058	0.0008	0.0015	0.0006	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0007	0.0029	0.0002	0	0.0068	0.0010	0.0009	0.0006	0.201	0.34800	T	0.185	0.28958	T	0.048	0.22112	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	1.78	0.46185	L	1.46	0.46028	T	-0.98	0.25986	N	0.321	0.36148	-1.0240	0.22410	T	0.095	0.35844	T	10	0.009273231	0.00209	T	0.007916	0.21007	T	0.235	0.53788	.	.	0.650169478884	0.64726	0.42778947382337046	0.42695	1.0341533241	0.75521	0.687376499176	0.65328	T	0.031971	0.22281	T	-0.13767	0.30261	T	-0.00590795	0.69953	D	0.0450740245908203	0.04615	T	0.822218	0.48193	T	0.15366106	0.34820	0.07450276	0.16304	0.15366106	0.34820	0.07450276	0.16304	-4.977	0.36589	T	.	.	0.128	0.27161	B	.;.	.;.	3.894827	0.56694	23.8	0.9946019116539927	0.65736	0.24407	0.22384	N	AEFDBI	0.283776	0.39680	N	-0.355655329355981	0.27065	1.481981	-0.264150401651686	0.29287	1.639692	0.958850997488869	0.28389	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.97	4.01	0.45821	0.375000	0.20248	3.348000	0.37762	0.599000	0.40250	0.024000	0.20007	1.000000	0.68203	0.995000	0.73285	0.165:0.835:0.0:0.0	12.701	0.56403	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007064	0.000000	0.008152	0.002924	0.000000	0.008621	0.015432	0.000000	0.02632	545.33	52	chr20	3748364	.	C	T	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=680;ExcessHet=0;FS=3.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.11;SOR=0.269	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	18	0	1	0
chr20	3750191	3750191	G	A	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon10:c.G1007A:p.R336Q,HSPA12B:NM_001197327:exon11:c.G1262A:p.R421Q,HSPA12B:NM_052970:exon11:c.G1265A:p.R422Q	.	0	225	1	0	0	1	0.00221729	.	.	.	2719754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0156866545134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489090547	8.925e-06	8.893e-06	6.824e-06	1.105e-05	5.817e-05	4.98e-06	3.84e-06	2.199e-05	1.434e-05	0	0	0	2.529e-05	0	0	2.705e-06	6.655e-05	5.817e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.082	0.41573	T	0.866	0.47610	P	0.478	0.47030	P	0.005276	0.32945	N	0.269456	0.692456	0.33340	D	2.3	0.65703	M	1.56	0.43279	T	-1.25	0.31576	N	0.509	0.54059	-0.8685	0.50642	T	0.125	0.42883	T	10	0.32643828	0.49941	T	0.015687	0.36562	T	0.138	0.37187	0.513	0.61153	0.700068348732	0.69747	0.6160720834332996	0.61539	0.928872029413	0.71747	0.613303482533	0.54784	T	0.015308	0.16359	T	-0.0970849	0.36908	T	-0.356961	0.38403	T	0.870269358158112	0.52018	D	0.970903	0.89563	D	0.12719645	0.29772	0.10347139	0.24828	0.12719645	0.29772	0.10347139	0.24828	-9.221	0.69108	D	.	.	0.103	0.28920	B	.;.	.;.	5.087920	0.84947	28.5	0.99916290077943781	0.98449	0.94951	0.62900	D	AEFDBHCI	0.569616	0.57432	D	0.33891417708349	0.58157	3.986383	0.411076200294471	0.62254	4.437765	0.99999999999202	0.74766	0.652421	0.48094	0	0.550933	0.16991	0	0.64067	0.45733	0	0.683535	0.66460	0	.	.	5.33	5.33	0.75683	4.668000	0.61262	8.629000	0.77845	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0897:0.0:0.9103:0.0	10.374	0.43256	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1211.33	35	chr20	3750191	.	G	A	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.193;DP=755;ExcessHet=0;FS=1.967;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=1.06;SOR=0.492	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:57,42:111:99:233,0,871	3	0	14	2
chr20	3889480	3889480	G	T	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_001324192:exon1:c.G380T:p.G127V,PANK2:NM_153638:exon1:c.G380T:p.G127V	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	2	1488	32	0	0	32	0.0106383	.	.	.	270080	PANK2-related_disorder|not_provided|Pigmentary_pallidal_degeneration|not_specified	.|MedGen:C3661900|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.461	.	.	0.00319489	0.0046	0	0.0019	0	0	0.0009	0	0.0140	0.0011319	175	154602	rs528149001	0.0008	0.0008	0.0006	0.0010	0.0083	0.0008	0.0008	0.0077	0.0075	0.0002	0.0003	0.0005	0	0	0.0052	0.0004	0.0011	0.0083	0.0007	0.0007	0.0006	0.0007	0.0095	0.0006	0.0005	0.0073	0.0066	7.213e-05	0	0.0007	0	0	0	0	0.0006	0.0019	0.0095	0.005	0.63226	D	0.02	0.92824	D	0.614	0.39766	P	0.435	0.45529	B	0.007549	0.31331	N	0.149705	0.999904	0.81001	D	0	0.06538	N	-4.65	0.97938	D	-0.51	0.15986	N	0.431	0.49965	0.759	0.93903	D	0.812	0.93676	D	10	0.008071929	0.00183	T	.	.	.	0.461	0.75822	.	.	0.977251892827	0.97700	0.1533525734882303	0.15257	0.618344074146	0.56229	0.802133798599	0.82288	T	0.223434	0.58758	T	-0.159559	0.26827	T	0.00315517	0.70540	D	0.0831932129315805	0.10390	T	0.79572	0.43862	T	0.21505176	0.43928	0.31713855	0.57690	0.23967786	0.46861	0.25087205	0.50685	-4.738	0.33860	T	.	.	0.137	0.33958	B	.;.	.;.	3.292699	0.45166	22.1	0.99225521608074152	0.56057	0.87317	0.46819	D	AEFGBHCIJ	0.231275	0.35453	N	0.141082686965267	0.48390	3.051896	0.261891049211992	0.53330	3.502367	0.999999999999993	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.73	4.73	0.59485	2.080000	0.41211	3.420000	0.38245	0.655000	0.54021	0.995000	0.38783	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	13.455	0.60645	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008359	0.000000	0.004178	0.000000	0.000000	0.017544	0.038961	0.000000	0.05263	2507.83	36	chr20	3889480	.	G	T	2507.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.759;DP=862;ExcessHet=0.119;FS=4.63;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.423;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	17	0	2	0
chr20	3889666	3889666	C	G	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_001324192:exon1:c.C566G:p.S189C,PANK2:NM_153638:exon1:c.C566G:p.S189C	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.948870009286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.399e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.59732	D	0.975	0.58077	D	0.62	0.51382	P	0.150885	0.17972	N	0.554792	0.910819	0.81001	D	0	0.06538	N	-4.35	0.97292	D	-1.18	0.30140	N	0.423	0.46274	0.792	0.94306	D	0.796	0.93082	D	10	0.46633118	0.59592	T	0.94887	0.99647	D	0.372	0.69102	0.32	0.29902	0.976594618597	0.97634	0.2647698544784492	0.26389	0.767720231024	0.64598	0.837414801121	0.87699	D	0.256528	0.62745	T	0.142294	0.68542	D	-0.0333806	0.68144	D	0.497982680797577	0.32556	T	0.738026	0.35555	T	0.18352444	0.39624	0.11129043	0.26844	0.18352444	0.39624	0.11129043	0.26843	-5.169	0.48309	T	.	.	0.076	0.09094	B	.;.	.;.	3.967101	0.58223	24.0	0.9905779034837684	0.51413	0.73732	0.36065	D	AEFDBHCIJ	0.121299	0.23589	N	0.123175608941627	0.47546	2.978759	0.146929475881368	0.46981	2.935236	0.999999999994707	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.58	4.58	0.56077	1.362000	0.33752	4.391000	0.43214	0.493000	0.22426	0.825000	0.30060	1.000000	0.68203	0.719000	0.34739	0.0:1.0:0.0:0.0	13.049	0.58353	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	858.33	35	chr20	3889666	.	C	G	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=750;ExcessHet=0;FS=1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.37;SOR=0.546	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr20	4862862	4862862	C	T	exonic	SLC23A2	.	nonsynonymous SNV	SLC23A2:NM_005116:exon14:c.G1402A:p.A468T,SLC23A2:NM_203327:exon14:c.G1402A:p.A468T	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00925151946133	7.7e-05	0.000199681	0.0006	0.0002	0.0003	0	0	0.0006	0	0.0019	0.0005304	82	154602	rs201605928	0.0003	0.0003	0.0003	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	2.988e-05	0.0003	0.0001	2.519e-05	0.0002	0.0016	0.0003	0.0004	0.0016	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0004	0.0003	7.215e-05	0.0099	0.0001	0	0	0	0.0068	0.0005	0	0.0010	0.011	0.55530	D	0.007	0.69154	D	0.111	0.26235	B	0.096	0.30313	B	0.031720	0.25130	N	0.452224	1	0.08975	N	1.08	0.27187	L	2.2	0.18570	T	-0.39	0.13611	N	0.315	0.35620	-1.0600	0.11756	T	0.052	0.22076	T	10	0.04046017	0.02617	T	0.009252	0.24296	T	0.120	0.33359	.	.	0.110392049598	0.10638	0.5239823253730236	0.52322	0.870319182864	0.69373	0.504937231541	0.39516	T	0.157052	0.49948	T	-0.475105	0.00791	T	-0.461708	0.26413	T	0.0191854952216271	0.00625	T	0.922508	0.71813	D	0.0552341	0.10706	0.061056927	0.11727	0.0552341	0.10706	0.061056927	0.11727	-3.417	0.15286	T	.	.	0.095	0.16756	B	.;.	.;.	2.990410	0.39923	21.1	0.98981306274986014	0.49740	0.32347	0.24563	N	AEFDBI	0.054445	0.09900	N	-0.208416205513093	0.32787	1.853057	-0.218940263961065	0.30856	1.741067	0.0195852293340798	0.13176	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	4.45	0.53365	1.285000	0.32866	3.996000	0.41031	0.599000	0.40250	0.663000	0.28286	0.995000	0.32472	0.048000	0.15020	0.1864:0.5144:0.1792:0.12	2.513	0.04377	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.003788	0.02632	905.33	74	chr20	4862862	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.396;SOR=0.677	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr20	5955186	5955186	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon5:c.A421G:p.I141V,MCM8:NM_001281521:exon5:c.A421G:p.I141V,MCM8:NM_001281522:exon5:c.A421G:p.I141V,MCM8:NM_032485:exon5:c.A421G:p.I141V,MCM8:NM_182802:exon5:c.A421G:p.I141V	.	435	1077	10	0	0	10	0.00462107	.	.	.	728756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0008	0.00439297	0.0021	9.612e-05	0.0008	0.0068	0.0002	0.0013	0.0011	0.0059	0.0020892	323	154602	rs116926921	0.0014	0.0014	0.0013	0.0015	0.0072	0.0013	0.0013	0.0065	0.0062	0.0008	0.0008	0.0053	0.0072	9.361e-05	0.0031	0.0007	0.0026	0.0062	0.0013	0.0013	0.0011	0.0015	0.0079	0.0011	0.0011	0.0060	0.0053	0.0003	0	0.0010	0.0075	0.0079	0	0.0068	0.0009	0.0028	0.0070	0.173	0.28395	T	0.057	0.46406	T	0.0	0.02946	B	0.002	0.06944	B	0.001777	0.38052	N	0.322809	0.984105	0.24829	N	1.04	0.26193	L	2.78	0.11298	T	-0.77	0.22078	N	0.159	0.20262	-1.0392	0.17556	T	0.020	0.08546	T	10	0.0047038198	0.00099	T	.	.	.	0.036	0.09122	.	.	0.154104182512	0.14974	0.46859810290780074	0.46778	0.109795811323	0.12382	0.2617854774	0.05105	T	0.041653	0.25929	T	-0.613544	0.00120	T	-0.650364	0.08928	T	0.00195316512230435	0.00020	T	0.724128	0.33779	T	0.03678236	0.04591	0.046030555	0.06324	0.042884752	0.06586	0.04663645	0.06544	-3.664	0.21059	T	0.1408732256530989	0.15800	0.070	0.08176	B	.;.;.;.;.	.;.;.;.;.	1.038518	0.14191	10.77	0.87376897036475376	0.17183	0.69319	0.34141	D	AEFBI	0.089057	0.18051	N	-0.430951797694295	0.24390	1.316637	-0.373308461193209	0.25796	1.420813	0.992285742947323	0.32785	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	2.09	0.26154	0.105000	0.15169	3.014000	0.35974	0.756000	0.94297	0.863000	0.30666	1.000000	0.68203	0.942000	0.48361	0.7956:0.0:0.2044:0.0	9.333	0.37198	622	0.65860	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.005848	0.000000	0.000000	0.015244	0.011364	0.02632	1266.33	33	chr20	5955186	.	A	G	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.145;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.14;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1175	18	0	1	0
chr20	6778760	6778760	C	G	exonic	BMP2	.	nonsynonymous SNV	BMP2:NM_001200:exon3:c.C862G:p.Q288E	Brachydactyly, type A2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0128015741403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459743085	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.167	0.23095	T	0.688	0.05958	T	0.001	0.07471	B	0.003	0.08700	B	0.002966	0.35639	N	0.342769	0.999768	0.48888	D	1.42	0.35681	L	-0.64	0.72125	T	-0.9	0.24244	N	0.113	0.10056	-0.7827	0.56149	T	0.247	0.61612	T	10	0.1467573	0.27819	T	0.012802	0.31686	T	0.081	0.23632	0.342	0.33464	0.647643943771	0.64472	0.48625083393941954	0.48545	1.01999695743	0.75081	0.604522526264	0.53543	T	0.437079	0.78323	T	-0.0542898	0.43794	T	-0.31576	0.43038	T	0.506143915719107	0.32855	D	0.927907	0.73422	D	0.12034295	0.28321	0.12323389	0.29718	0.12034295	0.28320	0.12323389	0.29718	-4.079	0.24980	T	.	.	0.163	0.35992	B	.	.	3.596702	0.50782	23.0	0.96523722490603714	0.30126	0.96029	0.67212	D	AEFDGBHCI	0.742207	0.68590	D	0.0866788876030167	0.45843	2.834032	0.287133835834555	0.54788	3.642771	0.999924129208952	0.46280	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	6.115000	0.71256	7.718000	0.67175	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8669:0.1331:0.0	16.183	0.81745	938	0.14419	Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1581.33	40	chr20	6778760	.	C	G	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.848;SOR=0.729	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,112,1689	18	0	1	0
chr20	8741524	8741524	A	G	exonic	PLCB1	.	nonsynonymous SNV	PLCB1:NM_015192:exon23:c.A2474G:p.K825R,PLCB1:NM_182734:exon23:c.A2474G:p.K825R	Epileptic encephalopathy, early infantile, 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	533760	Developmental_and_epileptic_encephalopathy,_12	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.00457304164355	0.0002	.	0.0002	9.636e-05	0	0	0	0.0003	0	6.112e-05	0.0002005	31	154602	rs146646749	0.0003	0.0003	0.0004	0.0003	0.0009	0.0003	0.0003	0.0004	0.0004	2.987e-05	2.236e-05	0	0	1.872e-05	0.0009	0.0004	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.235e-05	0	0	0	0	0	0	0.0004	0	0	0.254	0.25154	T	0.305	0.32249	T	0.005	0.12996	B	0.012	0.16012	B	0.000000	0.84330	D	0.048550	0.57997	0.31108	N	1.765	0.45800	L	2.09	0.20122	T	-1.35	0.38540	N	0.142	0.15469	-1.0519	0.13872	T	0.037	0.16029	T	10	0.07836741	0.12482	T	0.004573	0.11283	T	0.091	0.26358	.	.	0.503923442013	0.50028	0.19388107218960798	0.19306	0.260481724346	0.28615	0.600746273994	0.53009	T	0.311012	0.69050	T	-0.424557	0.01601	T	-0.525657	0.19724	T	0.0703764855861664	0.08703	T	0.815918	0.58915	T	0.08356227	0.19303	0.13035508	0.31325	0.08356227	0.19302	0.13035508	0.31324	-5.87	0.45247	T	0.16933282508166836	0.21227	0.081	0.08465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.116257	0.42050	21.5	0.99318036424143052	0.59279	0.94375	0.60965	D	AEFBI	0.471336	0.51692	N	-0.101582745438838	0.37323	2.169847	0.0927545220034204	0.44184	2.705066	0.163095230336259	0.17623	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	4.551000	0.60450	11.169000	0.87908	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.7819:0.0:0.0746:0.1435	6.162	0.19584	792	0.45996	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1883.33	34	chr20	8741524	.	A	G	1883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.527;DP=760;ExcessHet=0;FS=7.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.018;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	18	0	1	0
chr20	9444221	9444221	C	A	exonic	PLCB4	.	nonsynonymous SNV	PLCB4:NM_001377135:exon30:c.C2822A:p.S941Y,PLCB4:NM_001377136:exon30:c.C2822A:p.S941Y,PLCB4:NM_000933:exon31:c.C2822A:p.S941Y,PLCB4:NM_001172646:exon31:c.C2858A:p.S953Y,PLCB4:NM_001377134:exon31:c.C2822A:p.S941Y,PLCB4:NM_001377143:exon31:c.C2858A:p.S953Y,PLCB4:NM_182797:exon31:c.C2822A:p.S941Y,PLCB4:NM_001377142:exon32:c.C2858A:p.S953Y	Auriculocondylar syndrome 2, Autosomal recessive, Autosomal dominant	1	1498	21	2	0	25	0.00827541	.	.	.	350501	Auriculocondylar_syndrome_2|not_provided	MONDO:MONDO:0013845,MedGen:C3553404,OMIM:614669,Orphanet:137888|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0227457940973	0.0037	0.00259585	0.0036	0.0006	0.0013	0	0.0050	0.0053	0.0077	0.0016	0.0034152	528	154602	rs148347249	0.0028	0.0029	0.0026	0.0029	0.0176	0.0027	0.0027	0.0148	0.0138	0.0008	0.0017	0.0050	5.062e-05	0.0043	0.0176	0.0028	0.0033	0.0019	0.0028	0.0028	0.0027	0.0029	0.0039	0.0026	0.0025	0.0035	0.0034	0.0005	0	0.0035	0.0049	0	0.0039	0.0170	0.0039	0.0028	0.0027	0.011	0.56456	D	0.036	0.52727	D	0.57	0.38545	P	0.459	0.46845	P	0.000644	0.42656	D	0.250311	0.999054	0.45965	D	1.445	0.36358	L	0.83	0.47815	T	-3.02	0.64478	D	0.247	0.27910	-0.9153	0.46181	T	0.118	0.41407	T	10	0.008647591	0.00196	T	0.022746	0.45666	T	0.102	0.29158	.	.	0.69131558434	0.68866	0.22142391229415437	0.22057	0.531670624544	0.50654	0.669055700302	0.62703	T	0.602262	0.87270	D	-0.437204	0.01343	T	-0.399147	0.33482	T	0.0303985025036883	0.02052	T	0.89781	0.67446	D	0.3033463	0.53204	0.38028178	0.63064	0.36117372	0.57926	0.3719927	0.62416	-9.954	0.74324	D	0.2240441508973325	0.30252	0.201	0.48998	B	.;.;.;.;.	.;.;.;.;.	4.351790	0.66846	25.0	0.99400606058106133	0.62794	0.97399	0.74502	D	AEFGBI	0.764744	0.70144	D	0.288813958054568	0.55580	3.722137	0.442415478671174	0.64231	4.673612	0.999999684486178	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	5.315000	0.65594	5.920000	0.51151	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.115	0.97926	861	0.33516	.;Phospholipase C-beta, conserved site;.;Phospholipase C-beta, conserved site;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.019022	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	747.33	54	chr20	9444221	.	C	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.95;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.22;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1435	18	0	1	0
chr20	10045607	10045607	G	A	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon5:c.G730A:p.V244M,ANKEF1:NM_001303472:exon6:c.G163A:p.V55M,ANKEF1:NM_022096:exon6:c.G730A:p.V244M	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00545452859586	0.0009	0.000399361	0.0014	0.0004	0.0002	0	0.0003	0.0021	0.0033	0.0013	0.0013648	211	154602	rs145365860	0.0014	0.0014	0.0014	0.0014	0.0017	0.0013	0.0013	0.0016	0.0015	0.0002	0.0004	7.656e-05	0	0.0005	0.0017	0.0016	0.0011	0.0014	0.0011	0.0011	0.0009	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0003	0	0.0016	0	0	0.0003	0	0.0016	0.0009	0.0017	0.644	0.04943	T	0.429	0.13752	T	0.004	0.12183	B	0.005	0.11217	B	0.069222	0.21618	N	0.568644	0.999991	0.08975	N	0.59	0.15444	N	0.35	0.58029	T	0.31	0.04022	N	0.254	0.28732	-1.0267	0.21527	T	0.073	0.29707	T	10	0.0096743405	0.00218	T	0.005455	0.14015	T	0.115	0.32236	.	.	0.191931220699	0.18833	0.4814260143048548	0.48062	0.179909881362	0.20237	0.266176819801	0.05649	T	0.011928	0.10567	T	-0.549952	0.00292	T	-0.566423	0.15778	T	0.00633706857247029	0.00070	T	0.618638	0.23716	T	0.031478286	0.02995	0.035596196	0.02841	0.031478286	0.02994	0.035596196	0.02840	-2.633	0.06758	T	.	.	0.080	0.07937	B	.;.	.;.	-2.656160	0.00022	0.001	0.79934628475859681	0.12968	0.00981	0.03737	N	AEFI	0.038745	0.05529	N	-2.14224039503369	0.00103	0.004417572	-2.28072574654721	0.00073	0.003221303	0.999999915097221	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.97	-11.9	0.00018	-3.820000	0.00403	-5.438000	0.01718	-3.514000	0.00079	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1774:0.2631:0.2976:0.262	1.591	0.02493	917	0.20147	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	954.33	34	chr20	10045607	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=711;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.3;SOR=1.003	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	18	0	1	0
chr20	11890915	11890915	C	G	exonic	BTBD3	.	nonsynonymous SNV	BTBD3:NM_181443:exon1:c.C148G:p.R50G	.	452	1060	9	1	0	11	0.0051619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0030736	80	26028	rs182782561	0.0063	0.0037	0.0062	0.0064	0.0068	0.0062	0.0061	0.0062	0.0062	0.0008	0.0030	0.0221	0	0.0108	0.0068	0.0064	0.0073	0.0032	0.0059	0.0059	0.0061	0.0056	0.0084	0.0056	0.0054	0.0072	0.0068	0.0014	0.0296	0.0084	0.0240	0	0.0051	0.0034	0.0074	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	242.35	12	chr20	11890915	.	C	G	242.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=278;ExcessHet=0;FS=2.702;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.543;SOR=0.141	GT:AD:DP:GQ:PL	0/0:20,0:20:51:0,51,765	18	0	1	0
chr20	13221797	13221799	GCT	-	exonic	ISM1	.	nonframeshift deletion	ISM1:NM_080826:exon1:c.21_23del:p.L12del	.	.	.	.	.	.	.	.	.	.	.	3206872	ISM1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0098	.	0.0212	0.0070	0	0.0164	0	0.0209	0.0476	0.0217	0.0010996	170	154602	rs764390050	0.0007	0.0067	0.0007	0.0007	0.0029	0.0006	0.0006	0.0023	0.0021	0.0008	0.0029	0.0015	0.0002	0.0008	0.0008	0.0005	0.0010	0.0025	1.321e-05	9.204e-05	1.291e-05	1.353e-05	6.569e-05	2.2e-06	8.2e-07	.	.	2.42e-05	0	6.569e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	37.4	18	chr20	13221796	.	AGCT	A	37.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.846;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.88;ReadPosRankSum=-0.197;SOR=0.33	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,516	18	0	1	0
chr20	13279746	13279746	G	A	exonic	ISM1	.	nonsynonymous SNV	ISM1:NM_080826:exon3:c.G491A:p.R164K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0236031763852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.467	0.12351	T	0.824	0.45836	P	0.3	0.41053	B	0.000000	0.84330	D	0.041957	0.999926	0.81001	D	1.895	0.50365	L	0.91	0.44856	T	-0.42	0.14193	N	0.496	0.52918	-1.0538	0.13359	T	0.113	0.40354	T	10	0.2957555	0.47143	T	0.023603	0.46567	T	0.098	0.28162	0.302	0.27003	0.215869574891	0.21205	0.4600433435047112	0.45922	0.0376800308232	0.03997	0.426574766636	0.28740	T	0.023893	0.18158	T	-0.0403372	0.45900	T	-0.295718	0.45175	T	0.437812414162807	0.30348	T	0.778122	0.41194	T	0.28054386	0.51101	0.30801672	0.56822	0.28054386	0.51100	0.30801672	0.56821	-3.972	0.23383	T	.	.	0.091	0.13127	B	.	.	3.268526	0.44732	22.0	0.87899243788439974	0.17565	0.91436	0.53530	D	AEFDBI	0.528530	0.55001	D	0.364333377170254	0.59500	4.129969	0.465599763861432	0.65724	4.860185	0.999999931167125	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	4.570000	0.60586	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.118	0.97949	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2457.33	38	chr20	13279746	.	G	A	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=872;ExcessHet=0;FS=5.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.41;SOR=1.037	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr20	16380020	16380020	C	T	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon19:c.G1982A:p.R661H,KIF16B:NM_001199866:exon19:c.G1982A:p.R661H,KIF16B:NM_024704:exon19:c.G1982A:p.R661H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0286457099082	0.0002	.	4.258e-05	0	0	0	0	6.089e-05	0	7.278e-05	4.53e-05	7	154602	rs368432617	3.593e-05	3.694e-05	3.159e-05	4.032e-05	0.0004	2.79e-05	2.526e-05	6.19e-05	2.85e-05	0	0	0	0	0	0.0004	4.158e-05	1.676e-05	3.595e-05	4.599e-05	4.596e-05	3.854e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-05	0	0.0002	0.016	0.55530	D	0.008	0.67890	D	0.999	0.77913	D	0.875	0.70482	P	0.000000	0.84330	D	0.000000	0.999099	0.81001	D	2.545	0.74286	M	2.24	0.17923	T	-2.47	0.53898	N	0.64	0.71232	-1.0893	0.05650	T	0.106	0.38636	T	10	0.41970956	0.56780	T	0.028646	0.51291	D	0.192	0.47115	.	.	0.542543016418	0.53907	0.38523555891519834	0.38438	0.611226101103	0.55771	0.664208769798	0.62011	T	0.23496	0.60211	T	-0.131704	0.31220	T	-0.316902	0.42913	T	0.953593790531158	0.64063	D	0.987868	0.95886	D	0.26033494	0.49089	0.18038715	0.40835	0.26033494	0.49089	0.18038715	0.40834	-6.576	0.51999	T	.	.	0.100	0.32733	B	.;.;.	.;.;.	5.077494	0.84722	28.4	0.99957906907010741	0.99986	0.96551	0.69706	D	AEFBI	0.768438	0.70400	D	0.742629566098747	0.82422	7.759055	0.727091389731885	0.84436	8.291241	0.998958446801717	0.38059	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.28	5.28	0.74118	5.627000	0.67460	7.671000	0.64778	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9251:0.0:0.0749	13.579	0.61352	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1808.33	151	chr20	16380020	.	C	T	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=867;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.647;SOR=0.735	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr20	16515652	16515652	G	A	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon4:c.C244T:p.L82F,KIF16B:NM_001199866:exon4:c.C244T:p.L82F,KIF16B:NM_024704:exon4:c.C244T:p.L82F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0523454252223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.895	0.83812	M	-0.77	0.73523	T	-3.65	0.73042	D	0.766	0.76388	0.302	0.87592	D	0.621	0.86659	D	10	0.7459062	0.75286	D	0.052345	0.65033	D	0.609	0.84666	0.725	0.85937	0.920648974355	0.91985	0.7201589739235272	0.71958	1.409654094	0.85419	0.64826130867	0.59739	T	0.697153	0.91247	D	0.0466395	0.57910	T	-0.170782	0.57372	T	0.994046449661255	0.85117	D	0.957404	0.84924	D	0.47978923	0.65887	0.4440372	0.67599	0.47978923	0.65888	0.4440372	0.67600	-11.71	0.83410	D	.	.	0.693	0.73359	P	.;.;.	.;.;.	4.848976	0.79243	27.1	0.99901554781469681	0.97350	0.95528	0.65080	D	AEFIJ	0.401125	0.47574	N	0.793881050193594	0.85720	8.661534	0.755726669268876	0.86584	8.936365	0.127433174748637	0.17019	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.47	5.47	0.80345	4.041000	0.57051	9.878000	0.82178	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.692	0.96003	905	0.23532	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	38	chr20	16515652	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-2.946;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1351	18	0	1	0
chr20	17643125	17643125	G	A	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.C1915T:p.P639S,RRBP1:NM_004587:exon4:c.C616T:p.P206S,RRBP1:NM_001042576:exon5:c.C616T:p.P206S	.	424	1087	11	0	0	11	0.00503432	.	.	.	728552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0132207433375	0.0020	0.00119808	0.0022	0.0003	0.0030	0	0.0009	0.0033	0.0023	0.0002	0.0021539	333	154602	rs143378274	0.0022	0.0022	0.0023	0.0021	0.0050	0.0021	0.0021	0.0036	0.0031	0.0004	0.0031	0.0081	0	0.0004	0.0050	0.0023	0.0028	0.0003	0.0019	0.0019	0.0020	0.0018	0.0046	0.0017	0.0017	0.0037	0.0034	0.0007	0	0.0046	0.0072	0	0.0003	0.0034	0.0023	0.0028	0.0002	0.178	0.32296	T	0.484	0.18959	T	0.01	0.15535	B	0.005	0.11217	B	0.227983	0.15985	N	0.465175	0.998373	0.44834	D	-0.2	0.04182	N	0.82	0.48142	T	-1.91	0.44471	N	0.226	0.28264	-1.0776	0.07821	T	0.062	0.25708	T	10	0.0039239526	0.00086	T	0.013221	0.32452	T	0.031	0.07369	.	.	0.358134431457	0.35428	0.07527235043713257	0.07463	0.412393024737	0.41979	0.269505441189	0.06076	T	0.101351	0.40803	T	-0.532557	0.00371	T	-0.540494	0.18248	T	0.0102390924461211	0.00139	T	0.639136	0.25234	T	0.018298633	0.00351	0.031990707	0.01867	0.018298633	0.00351	0.031990707	0.01867	-1.269	0.02045	T	.	.	0.063	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.882137	0.12556	9.082	0.96773931413531733	0.31045	0.35115	0.25226	N	AEFBCI	0.357318	0.44839	N	-0.885375518008875	0.11190	0.5386663	-0.891751570331846	0.12288	0.6312676	0.987645813061569	0.31311	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	0.925	0.18550	0.452000	0.21508	1.302000	0.25481	0.618000	0.50648	0.039000	0.20931	0.760000	0.26617	0.165000	0.20815	0.2428:0.1542:0.6029:0.0	5.678	0.17032	905	0.23532	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	540.33	34	chr20	17643125	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.426;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	18	0	1	0
chr20	17659162	17659162	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G1346A:p.G449D	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	.	.	.	0.0069	0.0024	0.0057	0.0125	0.0109	0.0072	0	0.0064	0.0001153	3	26028	rs78244614	0.0009	0.0025	0.0006	0.0013	0.0018	0.0009	0.0009	0.0014	0.0013	0.0005	0.0015	0.0009	0.0018	0.0022	0.0017	0.0009	0.0008	0.0006	0.0007	0.0023	0.0007	0.0007	0.0013	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0013	0	0.0010	0.0011	0	0.0008	0.0023	0.0003	0.002	0.72154	D	0.073	0.43159	T	.	.	.	.	.	.	0.002516	0.36425	N	0.000000	1	0.08975	N	1.1	0.28011	L	-0.16	0.65378	T	-1.25	0.31576	N	0.556	0.58117	-0.8589	0.51341	T	0.211	0.57161	T	7	0.0057474673	0.00128	T	.	.	.	0.236	0.53931	.	.	0.558889990735	0.55549	.	.	.	.	.	.	.	0.172587	0.52114	T	-0.314382	0.07367	T	-0.280713	0.46730	T	0.0132913322339415	0.00238	T	0.727827	0.34232	T	0.080974296	0.18582	0.14442408	0.34289	0.080974296	0.18581	0.14442408	0.34288	-11.478	0.82215	D	.	.	0.514	0.65230	A	.;.	.;.	2.704687	0.35341	19.87	0.99540405673644428	0.70461	0.13086	0.17655	N	AEFBI	.	.	.	-0.407713224649445	0.25199	1.366131	-0.527968319027065	0.21395	1.157205	0.999877974346672	0.44625	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.75	3.78	0.42629	-0.722000	0.05061	0.040000	0.13855	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.8111:0.0:0.1889	8.252	0.30895	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	372.14	109	chr20	17659162	.	C	T	372.14	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=2677;ExcessHet=0;FS=10.232;InbreedingCoeff=-0.2505;MLEAC=2;MLEAF=0.167;MQ=51.65;MQRankSum=1.76;QD=4.28;ReadPosRankSum=-3.418;SOR=2.042	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:161,0:161:0:.:.:0,0,3744:.	5	0	1	13
chr20	17969913	17969915	TTC	-	exonic	MGME1	.	nonframeshift deletion	MGME1:NM_001310338:exon2:c.54_56del:p.S19del,MGME1:NM_001310339:exon2:c.54_56del:p.S19del,MGME1:NM_001363738:exon2:c.54_56del:p.S19del,MGME1:NM_052865:exon2:c.54_56del:p.S19del	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	.	972799	Mitochondrial_DNA_depletion_syndrome_11|not_provided	MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.926e-05	0	0	0	0	0.0002	0.0022	0	8.41e-05	13	154602	rs766468409	6.5e-05	6.498e-05	5.174e-05	7.839e-05	0.0049	5.429e-05	5.042e-05	0.0035	0.0030	0.0001	4.485e-05	0	0	0	0.0049	4.407e-05	0.0002	1.16e-05	9.192e-05	9.186e-05	6.425e-05	0.0001	0.0004	5.523e-05	4.361e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0.0102	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.000000	0.02632	2691.29	33	chr20	17969912	.	TTTC	T	2691.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=770;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=-0.546;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr20	17975788	17975788	A	G	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.A376G:p.I126V,MGME1:NM_052865:exon3:c.A616G:p.I206V,MGME1:NM_001310338:exon4:c.A661G:p.I221V	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00764950922908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466690078	1.437e-05	1.437e-05	1.497e-05	1.375e-05	7.557e-05	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.593	0.05936	T	0.43	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.010588	0.29863	N	0.378729	1	0.20887	N	0.64	0.16041	N	1.01	0.41058	T	-0.19	0.12099	N	0.059	0.03069	-1.0567	0.12595	T	0.037	0.15943	T	10	0.03745523	0.02101	T	0.00765	0.20299	T	0.005	0.00259	0.358	0.36060	0.222439326576	0.21863	0.2734044307972881	0.27253	0.0724592716056	0.08123	0.274040579796	0.06675	T	0.091908	0.54583	T	-0.354175	0.04470	T	-0.746525	0.03623	T	0.0312517489766172	0.02186	T	0.665033	0.27384	T	0.079684995	0.18217	0.05222864	0.08564	0.079684995	0.18217	0.05222864	0.08564	-4.015	0.24027	T	0.10130178131428147	0.07572	0.068	0.04238	B	.;.	.;.	0.319446	0.06938	3.486	0.61784522800597175	0.06796	0.06149	0.12130	N	AEFBI	0.048654	0.08324	N	-1.40697241427717	0.02577	0.113978	-1.37087397813362	0.03566	0.1665911	0.999733983842303	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-2.63	0.05775	-0.975000	0.03900	-0.246000	0.10547	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.2236:0.1114:0.4817:0.1833	4.022	0.09158	782	0.47442	PD-(D/E)XK endonuclease-like domain, AddAB-type;PD-(D/E)XK endonuclease-like domain, AddAB-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1015.33	33	chr20	17975788	.	A	G	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.6;DP=716;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.391;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	18	0	1	0
chr20	18414461	18414461	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.C610A:p.H204N,DZANK1:NM_001099407:exon12:c.C1129A:p.H377N,DZANK1:NM_001351683:exon12:c.C1213A:p.H405N,DZANK1:NM_001351684:exon12:c.C1186A:p.H396N,DZANK1:NM_001367611:exon12:c.C1129A:p.H377N,DZANK1:NM_001367612:exon12:c.C1144A:p.H382N,DZANK1:NM_001367613:exon12:c.C1144A:p.H382N,DZANK1:NM_001367614:exon12:c.C1186A:p.H396N,DZANK1:NM_001367617:exon12:c.C1186A:p.H396N,DZANK1:NM_001367618:exon12:c.C1186A:p.H396N,DZANK1:NM_001367619:exon13:c.C787A:p.H263N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	0.00379393	0.0024	0	0	0	0	0	0.0024	0.0164	0.0017594	272	154602	rs149741633	0.0010	0.0010	0.0005	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	4.48e-05	0	0	0	0.0010	1.799e-05	0.0010	0.0163	0.0005	0.0005	0.0003	0.0008	0.0163	0.0004	0.0004	0.0134	0.0124	0	0	6.531e-05	0	0.0002	0	0	0	0	0.0163	0.04	0.42199	D	0.175	0.33330	T	0.027	0.19556	B	0.023	0.19966	B	0.043827	0.23700	N	0.517266	0.921283	0.27287	N	1.565	0.39561	L	-0.04	0.63240	T	-2.28	0.50830	N	0.321	0.46086	-0.9162	0.46063	T	0.152	0.48135	T	10	0.0038963854	0.00074	T	.	.	.	0.052	0.14661	0.404	0.43573	0.363751660372	0.35992	0.28379595700605925	0.28292	0.080610085718	0.09072	0.352972835302	0.18358	T	0.005197	0.24667	T	-0.469576	0.00855	T	-0.434316	0.29446	T	0.0343076124340056	0.02689	T	0.89801	0.64352	D	0.33601317	0.55960	0.22845569	0.47887	0.33601317	0.55960	0.22845569	0.47886	-8.62	0.65222	D	.	.	0.109	0.23290	B	.;.;.;.	.;.;.;.	2.822975	0.37193	20.4	0.97147675471940576	0.32573	0.88689	0.48736	D	AEFDBI	0.255532	0.37463	N	-0.173431898017422	0.34243	1.952231	-0.0890796437538329	0.35839	2.078346	0.00164215277638661	0.08740	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.82	1.21	0.20240	1.853000	0.38998	3.244000	0.36984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2672:0.0:0.7328:0.0	12.514	0.55366	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1519.33	40	chr20	18414461	.	G	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=775;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.11;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1396	18	0	1	0
chr20	18414509	18414509	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.G562A:p.G188S,DZANK1:NM_001099407:exon12:c.G1081A:p.G361S,DZANK1:NM_001351683:exon12:c.G1165A:p.G389S,DZANK1:NM_001351684:exon12:c.G1138A:p.G380S,DZANK1:NM_001367611:exon12:c.G1081A:p.G361S,DZANK1:NM_001367612:exon12:c.G1096A:p.G366S,DZANK1:NM_001367613:exon12:c.G1096A:p.G366S,DZANK1:NM_001367614:exon12:c.G1138A:p.G380S,DZANK1:NM_001367617:exon12:c.G1138A:p.G380S,DZANK1:NM_001367618:exon12:c.G1138A:p.G380S,DZANK1:NM_001367619:exon13:c.G739A:p.G247S	.	435	1063	24	0	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0029	0.0163738	0.0121	0.0108	0.0031	0.0157	0.0002	0.0030	0.0188	0.0475	0.0071603	1107	154602	rs117387390	0.0040	0.0041	0.0030	0.0051	0.0397	0.0039	0.0039	0.0386	0.0381	0.0052	0.0020	0.0131	0.0170	9.461e-05	0.0102	0.0008	0.0054	0.0397	0.0051	0.0051	0.0046	0.0057	0.0461	0.0048	0.0047	0.0411	0.0392	0.0074	0.0044	0.0035	0.0147	0.0094	0	0.0102	0.0011	0.0057	0.0461	0.657	0.04742	T	0.995	0.03840	T	0.048	0.22112	B	0.007	0.12992	B	0.593465	0.11027	N	0.846150	1	0.08975	N	1.03	0.25572	L	0.03	0.62183	T	-0.52	0.16187	N	0.093	0.07262	-1.0355	0.18700	T	0.084	0.32729	T	10	0.0018946826	0.00026	T	.	.	.	0.100	0.28662	.	.	0.0716867268079	0.06686	0.32981247459072005	0.32894	0.0444781176994	0.04800	0.299264848232	0.10291	T	0.002958	0.19158	T	-0.440485	0.01285	T	-0.375516	0.36245	T	0.00886681408336766	0.00110	T	0.468753	0.13831	T	0.07891306	0.18000	0.079279974	0.17834	0.07891306	0.17999	0.079279974	0.17834	-7.373	0.56714	T	.	.	0.092	0.15115	B	.;.;.;.	.;.;.;.	1.745336	0.22204	15.52	0.77975688133924737	0.12102	0.07701	0.13704	N	AEFBI	0.077546	0.15626	N	-0.956470880121285	0.09548	0.4523762	-0.949479354296899	0.10934	0.5539916	0.00333530487472292	0.10062	0.653281	0.48532	0	0.659037	0.61890	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.94	-2.79	0.05494	0.319000	0.19270	0.529000	0.19232	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.0:0.4367:0.0:0.5633	12.607	0.55885	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014113	0.000000	0.020380	0.008772	0.000000	0.008621	0.006135	0.022727	0.05263	2187.83	40	chr20	18414509	.	C	T	2187.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.22;DP=773;ExcessHet=0.119;FS=1.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.221;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1396	17	0	2	0
chr20	18543156	18543156	G	A	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon14:c.G1649A:p.R550Q,SEC23B:NM_001172746:exon14:c.G1595A:p.R532Q,SEC23B:NM_006363:exon14:c.G1649A:p.R550Q,SEC23B:NM_032985:exon14:c.G1649A:p.R550Q,SEC23B:NM_032986:exon14:c.G1649A:p.R550Q	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	257335	Congenital_dyserythropoietic_anemia,_type_II|SEC23B-related_disorder|Cowden_syndrome_7|not_provided	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|.|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.803	.	0.0060	0.00499201	0.0014	0.0152	0.0003	0	0	4.495e-05	0	6.056e-05	0.001313	203	154602	rs111572459	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0140	0.0155	0.0005	0	0	0	0.0003	2.698e-05	0.0009	8.116e-05	0.0043	0.0043	0.0046	0.0041	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0011	0	0	0	0	4.41e-05	0.0014	0	0.001	0.78490	D	0.03	0.54159	D	0.978	0.58756	D	0.832	0.59730	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	-2.49	0.89145	D	-3.78	0.72594	D	0.836	0.83473	0.410	0.89252	D	0.617	0.86460	D	10	0.012790948	0.00274	T	.	.	.	0.803	0.93582	.	.	0.981089762561	0.98088	0.5964588528513464	0.59575	0.56074919768	0.52593	0.782165288925	0.79254	T	0.223348	0.58747	T	-0.155338	0.27479	T	0.0164158	0.71398	D	0.089579906832074	0.11168	T	0.993751	0.97946	D	0.6972273	0.77905	0.73107684	0.84109	0.7596531	0.81434	0.7095747	0.82871	-11.274	0.81140	D	0.6054290672613798	0.67267	0.680	0.80046	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.677614	0.92976	33	0.99951196398607001	0.99944	0.99051	0.90508	D	AEFBI	0.938335	0.93739	D	0.854462577839099	0.89360	9.940096	0.78923011248461	0.89035	9.812444	0.999999996785651	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.4	4.4	0.52402	9.968000	0.99102	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	16.166	0.81573	544	0.72685	Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain;Sec23/Sec24, helical domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.010101	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1144.33	33	chr20	18543156	.	G	A	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=710;ExcessHet=0;FS=3.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-1.237;SOR=1.131	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	18	0	1	0
chr20	19935150	19935150	C	T	exonic	RIN2	.	nonsynonymous SNV	RIN2:NM_001242581:exon3:c.C256T:p.R86W,RIN2:NM_018993:exon4:c.C109T:p.R37W	Macrocephaly, alopecia, cutis laxa, and scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00713969435234	.	.	3.339e-05	0	0	0	0	2.95e-05	0	0.0001	1.29e-05	2	154602	rs758146356	3.443e-06	8.893e-06	1.368e-06	5.544e-06	2.376e-05	1.01e-06	7.3e-07	3.94e-06	1.48e-06	0	0	0	0	0	0	2.709e-06	0	2.376e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.079	0.42086	T	0.0	0.20480	B	0.0	0.12992	B	0.176279	0.17229	N	0.579168	0.996842	0.23681	N	0	0.06538	N	3.17	0.07599	T	-1.24	0.50012	N	0.222	0.24883	-0.9642	0.38370	T	0.013	0.05225	T	9	0.15934262	0.29941	T	0.00714	0.18924	T	0.053	0.14996	0.406	0.43902	0.621312436561	0.61824	0.21071482603065933	0.20987	0.193897602363	0.21726	0.240074023604	0.02797	T	0.03675	0.38758	T	-0.204156	0.20208	T	-0.531032	0.19184	T	0.46412167562785	0.31316	T	0.869813	0.59828	D	0.20530303	0.42668	0.14580116	0.34565	0.20530303	0.42668	0.14580116	0.34565	-8.251	0.63971	D	.	.	0.092	0.17573	B	.;.;.	.;.;.	4.641079	0.73888	26.1	0.99800848404198861	0.88550	0.82608	0.41812	D	ALL	0.584310	0.58319	D	-0.21527642598951	0.32506	1.833976	0.0120547871009802	0.40272	2.400887	0.999999999999999	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.71	4.78	0.60666	3.838000	0.55532	5.926000	0.51241	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9244:0.0:0.0756	13.676	0.61931	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1318.33	40	chr20	19935150	.	C	T	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=778;ExcessHet=0;FS=4.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.276;SOR=1.201	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1332,0,1272	18	0	1	0
chr20	20188042	20188042	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon14:c.G1498A:p.A500T	.	432	1088	2	0	0	2	0.000918274	.	.	.	2672893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0127685113135	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs139564644	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0028	1.674e-05	1.477e-05	0.0017	0.0014	0	0	0	0	0	0.0028	1.259e-05	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.168	0.30631	T	0.983	0.60381	D	0.808	0.58514	P	0.003145	0.35359	N	0.273612	1	0.81001	D	.	.	.	2.71	0.12055	T	-2.43	0.53258	N	0.176	0.18920	-1.1632	0.00682	T	0.060	0.25163	T	10	0.27590987	0.45152	T	0.012769	0.31631	T	0.130	0.35528	.	.	0.26547132957	0.26150	0.380457712279188	0.37960	0.455830224917	0.45249	.	.	.	0.211899	0.57279	T	-0.302772	0.08401	T	-0.491159	0.23270	T	0.511127173900604	0.33039	D	0.60234	0.22547	T	0.077568665	0.17613	0.14023213	0.33432	0.077568665	0.17613	0.14023213	0.33431	-6.01	0.46364	T	.	.	0.101	0.17530	B	.	.	2.335339	0.29919	18.28	0.98137687042089861	0.38572	0.89777	0.50463	D	AEFI	0.131130	0.24995	N	-0.150808827995899	0.35199	2.018853	-0.23922993559671	0.30143	1.694747	6.94261092015656E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	3.78	0.42629	1.555000	0.35884	3.825000	0.39969	-0.148000	0.12190	0.950000	0.33075	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.729:0.271	14.285	0.65794	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	744.33	34	chr20	20188042	.	G	A	744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.516;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.252;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	18	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.011364	0.02632	2835.33	34	chr20	20196636	.	G	A	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=871;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.856;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1355	18	0	1	0
chr20	20629419	20629419	G	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon10:c.C1177T:p.R393W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.0613458733927	0.0006	0.000599042	0.0005	0.0001	0.0002	0	0	0.0009	0.0012	0.0002	0.0005239	81	154602	rs146624131	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	0.0001	0.0003	3.829e-05	0	9.365e-05	0.0003	0.0007	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0004	0	0	0	0	0.0010	0.0005	0	0.002	0.72154	D	0.007	0.69154	D	0.992	0.64738	D	0.386	0.44011	B	0.004665	0.33505	N	0.318753	0.778797	0.29356	N	2.39	0.68882	M	-1.2	0.78537	T	-4.38	0.77143	D	0.607	0.62442	-0.1406	0.79150	T	0.389	0.74371	T	10	0.15002188	0.28383	T	0.061346	0.68300	D	0.446	0.74797	.	.	0.68229737726	0.67959	0.34712068188213574	0.34626	0.171628982417	0.19330	0.391379654408	0.23864	T	0.260565	0.63195	T	-0.253815	0.13633	T	-0.161991	0.58173	T	0.0494379020581033	0.05402	T	0.976002	0.91601	D	0.23753254	0.46618	0.22960566	0.48037	0.23753254	0.46618	0.22960566	0.48036	-10.864	0.78906	D	.	.	0.170	0.37331	B	.	.	3.759123	0.53924	23.4	0.99909422129263914	0.97949	0.39222	0.26164	N	AEFBI	0.479577	0.52166	N	0.242978456183438	0.53291	3.498792	0.211068541941249	0.50459	3.237898	0.00182879523915105	0.08920	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	0.451000	0.21492	6.595000	0.56038	0.676000	0.76740	0.137000	0.23458	1.000000	0.68203	0.892000	0.42986	0.0:0.1391:0.7168:0.1441	10.952	0.46549	457	0.78953	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1224.33	45	chr20	20629419	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.351;DP=809;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.406;SOR=0.905	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr20	21136493	21136493	C	T	exonic	KIZ	.	nonsynonymous SNV	KIZ:NM_001352434:exon3:c.C256T:p.R86C,KIZ:NM_018474:exon3:c.C256T:p.R86C	Retinitis pigmentosa 69, Autosomal recessive	448	1067	5	2	0	9	0.00419972	.	.	.	742282	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0005	0.000399361	0.0007	0.0002	0.0006	0	0	0.0009	0.0067	0.0009	0.0003687	57	154602	rs199937464	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	0.0004	0.0006	0.0050	0	0	0.0040	0.0001	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0.0001	0	0.0005	0.0055	0	0	0.0068	0.0001	0.0005	0.0015	.	.	.	0.101	0.38596	T	0.025	0.19245	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.003368169	0.00059	T	.	.	.	.	.	.	.	0.275641507738	0.27180	0.04894602974604036	0.04837	.	.	0.190180450678	0.00228	T	0.074629	0.34984	T	-0.394685	0.02508	T	-0.446133	0.28124	T	.	.	.	0.232977	0.03169	T	0.07974816	0.18237	0.075108886	0.16502	0.08777786	0.20452	0.0722114	0.15551	-5.925	0.45647	T	.	.	0.104	0.18869	B	.	.	-0.163469	0.03281	0.563	0.80190317401827749	0.13086	0.05661	0.11576	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99998864965147	0.51787	0.262962	0.04601	0	0.266259	0.04867	1	0.292756	0.05521	0	0.330827	0.05736	0	0.385818	0.37277	5.53	1.36	0.21139	-2.301000	0.01218	-0.529000	0.08646	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.109000	0.18697	0.0:0.4738:0.2405:0.2857	5.686	0.17075	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.006793	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1358.33	33	chr20	21136493	.	C	T	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=747;ExcessHet=0;FS=3.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.584;SOR=0.93	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	18	0	1	0
chr20	21397128	21397163	GCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	-	exonic	NKX2-4	.	nonframeshift deletion	NKX2-4:NM_033176:exon1:c.237_272del:p.A80_A91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs768591128	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0011	0.0008	0.0002	0	0	0	0	0.0023	0.0002	0.0003	0.0005	0.0001	0.0001	0.0001	9.565e-05	0.0004	7.682e-05	6.368e-05	7.29e-05	4.305e-05	0.0001	0	0	0	0	0	0	0.0001	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	682.29	33	chr20	21397127	.	GGCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	G	682.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=676;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.462;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1091	18	0	1	0
chr20	21705764	21705764	G	C	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.G52C:p.G18R,PAX1:NM_006192:exon1:c.G52C:p.G18R	.	409	1112	1	0	0	1	0.000449438	.	.	.	1461836	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.427053480083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347724154	1.98e-05	1.573e-05	1.548e-05	2.455e-05	2.246e-05	1.296e-05	1.107e-05	1.443e-05	1.225e-05	0	0	0	0	0	0	2.246e-05	2.253e-05	0	1.982e-05	1.97e-05	1.291e-05	2.708e-05	4.437e-05	5.27e-06	2.46e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.437e-05	0	0	0.436	0.09374	T	1.0	0.02429	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	-4.24	0.97030	D	0.67	0.02263	N	0.105	0.08925	-0.1952	0.77795	T	0.606	0.86026	D	9	0.04851672	0.04313	T	0.427053	0.93908	D	0.212	0.50341	0.295	0.25881	0.357630699053	0.35373	0.11209258497823062	0.11138	1.5625050048	0.88054	0.826009631157	0.85951	D	0.063496	0.32191	T	-0.0370422	0.46387	T	-0.290985	0.45671	T	0.0323329494781632	0.02360	T	0.435056	0.11905	T	0.06678913	0.14405	0.107651986	0.25920	0.06678913	0.14404	0.107651986	0.25919	-3.794	0.20715	T	.	.	0.103	0.18331	B	.;.	.;.	0.441265	0.08112	4.843	0.64822075349500408	0.07600	0.02385	0.06772	N	AEFDBHCI	0.027993	0.02386	N	-1.18379152044342	0.05245	0.2386357	-1.10474956808205	0.07609	0.3707805	0.967878330349396	0.29010	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.47	-0.29	0.12211	0.006000	0.13051	0.271000	0.16657	-0.271000	0.06739	0.023000	0.19925	0.046000	0.21717	0.599000	0.31363	0.2807:0.2942:0.4251:0.0	7.013	0.24050	839	0.37672	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	484.33	33	chr20	21705764	.	G	C	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=695;ExcessHet=0;FS=6.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=-0.087;SOR=1.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1159	18	0	1	0
chr20	23035511	23035511	G	T	exonic	SSTR4	.	nonsynonymous SNV	SSTR4:NM_001052:exon1:c.G28T:p.G10W	.	417	1072	31	2	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0010	0.00579073	0.0101	0.0013	0.0005	0.0003	0.0129	0.0045	0.0118	0.0364	0.0038486	595	154602	rs200128778	0.0027	0.0027	0.0020	0.0033	0.0229	0.0026	0.0026	0.0220	0.0217	0.0002	0.0006	0.0002	0.0001	0.0037	0.0116	0.0013	0.0028	0.0229	0.0018	0.0018	0.0018	0.0018	0.0181	0.0016	0.0016	0.0150	0.0139	0.0002	0	0.0003	0.0003	0	0.0037	0.0171	0.0018	0.0019	0.0181	0.009	0.57480	D	0.032	0.53426	D	0.888	0.48822	P	0.186	0.36104	B	0.014314	0.01387	U	3.839660	1	0.08975	N	0.695	0.17993	N	-0.31	0.68030	T	0.7	0.02163	N	0.396	0.43706	-0.9558	0.39952	T	0.109	0.39439	T	10	0.004093647	0.00080	T	.	.	.	0.111	0.31313	.	.	0.520963378925	0.51741	0.32484460145015054	0.32397	0.51393972005	0.49362	0.719942033291	0.70038	T	0.047282	0.27676	T	-0.486337	0.00681	T	-0.453781	0.27279	T	0.010656141811405	0.00149	T	0.416558	0.10945	T	0.04749387	0.08127	0.057956647	0.10629	0.04749387	0.08127	0.057956647	0.10628	-4.25	0.27470	T	.	.	0.145	0.31882	B	.	.	1.310436	0.17132	12.98	0.7811163771348596	0.12160	0.02511	0.07006	N	AEFDBI	0.104038	0.20828	N	-0.972582954969699	0.09193	0.4340507	-1.09379127734444	0.07822	0.3820119	0.989063552908199	0.31712	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.39	0.012	0.13411	-0.117000	0.10681	0.360000	0.17566	-0.261000	0.06906	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1881:0.131:0.3713:0.3096	1.229	0.01821	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011270	0.005319	0.002740	0.020588	0.050000	0.000000	0.022013	0.015385	0.02632	374.33	34	chr20	23035511	.	G	T	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=633;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.51;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1386	18	0	1	0
chr20	23048049	23048049	C	A	exonic	THBD	.	nonsynonymous SNV	THBD:NM_000361:exon1:c.G1456T:p.D486Y	Thrombophilia due to thrombomodulin defect	0	1517	5	0	0	5	0.00164528	.	.	.	27753	not_specified|Atypical_hemolytic-uremic_syndrome_with_thrombomodulin_anomaly|Thrombomodulin-related_bleeding_disorder|THBD-related_disorder|Kidney_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013044,MedGen:C2752036,OMIM:612926|MONDO:MONDO:0013775,MedGen:C3280976,OMIM:614486,Orphanet:436169|.|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0002	0.00519169	0.0076	0.0004	0.0643	0.0135	0	0.0004	0.0028	0.0012	0.0057891	895	154602	rs41348347	0.0019	0.0019	0.0021	0.0017	0.0456	0.0019	0.0018	0.0439	0.0432	0.0004	0.0456	0	0.0107	0	0.0002	0.0001	0.0016	0.0012	0.0029	0.0029	0.0028	0.0030	0.0230	0.0027	0.0026	0.0210	0.0202	0.0003	0	0.0230	0	0.0093	0	0	0.0002	0.0033	0.0010	0.274	0.15823	T	0.091	0.40110	T	0.539	0.37887	P	0.086	0.29521	B	0.004353	0.01019	N	3.101670	1	0.08975	N	1.83	0.48079	L	-1.33	0.79854	T	-0.98	0.25986	N	0.225	0.25253	-0.8776	0.49950	T	0.067	0.27434	T	10	0.002846241	0.00045	T	.	.	.	0.240	0.54500	.	.	0.251116650651	0.24721	0.5610441727137804	0.56031	.	.	0.401119947433	0.25224	T	0.238281	0.60615	T	-0.453175	0.01082	T	-0.385746	0.35050	T	0.00341307166214287	0.00036	T	0.426357	0.11459	T	0.053030137	0.09975	0.04772096	0.06934	0.053030137	0.09975	0.04772096	0.06933	-5.426	0.41169	T	0.22214936155860696	0.29970	0.098	0.16275	B	.	.	-0.200739	0.03086	0.485	0.7338167816896275	0.10308	0.11397	0.16607	N	AEFBHCI	0.182898	0.31022	N	-1.25365118900454	0.04252	0.1915274	-1.39064688436588	0.03351	0.1561288	0.999999443774221	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.608004	0.38603	0	0.71	0.69187	0	.	.	4.2	-5.26	0.02559	-0.842000	0.04462	-0.091000	0.12058	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0999:0.3699:0.3393:0.1909	3.780	0.08196	845	0.36510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002026	0.000000	0.001359	0.000000	0.000000	0.000000	0.009375	0.000000	0.02632	1479.33	33	chr20	23048049	.	C	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.94;DP=740;ExcessHet=0;FS=4.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.962;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	18	0	1	0
chr20	23084634	23084634	G	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.C1559T:p.S520L	.	.	.	.	.	.	.	.	.	.	.	705404	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0005	0.000998403	0.0027	0.0005	0.0252	0.0005	0	0.0001	0	0.0005	0.0022121	342	154602	rs143062108	0.0008	0.0008	0.0009	0.0007	0.0214	0.0008	0.0007	0.0203	0.0198	0.0003	0.0214	7.952e-05	0.0005	0	0	6.689e-05	0.0010	0.0007	0.0007	0.0007	0.0008	0.0007	0.0061	0.0006	0.0006	0.0051	0.0047	0.0001	0	0.0061	0	0.0004	0	0	8.82e-05	0	0.0004	0.107	0.29554	T	0.036	0.52060	D	0.047	0.21998	B	0.01	0.14941	B	0.791973	0.09390	N	0.890092	1	0.08975	N	1.79	0.46772	L	-1.42	0.80645	T	-1.98	0.45769	N	0.063	0.03502	-0.7362	0.58647	T	0.338	0.70429	T	10	0.004088968	0.00080	T	.	.	.	0.196	0.47777	.	.	0.735914652579	0.73355	0.33451248733994376	0.33364	0.0663031460796	0.07396	0.266061604023	0.05634	T	0.075474	0.35185	T	-0.508171	0.00514	T	-0.481099	0.24329	T	0.00515522449743391	0.00056	T	0.533947	0.17813	T	0.034630492	0.03922	0.064170144	0.12820	0.034630492	0.03921	0.064170144	0.12819	-4.131	0.25745	T	.	.	0.088	0.11510	B	.	.	0.394338	0.07656	4.327	0.87808407243251974	0.17497	0.10457	0.15959	N	AEFDBCI	0.133770	0.25355	N	-1.12444809486899	0.06211	0.2852894	-1.16492111558015	0.06504	0.3132899	0.9999530951942	0.48110	0.542737	0.22433	0	0.547309	0.14657	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.66	1.46	0.21769	0.216000	0.17370	0.596000	0.19873	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2827:0.0:0.7173:0.0	11.211	0.48028	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1091.33	33	chr20	23084634	.	G	A	1091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.102;DP=1663;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.491;SOR=1.059	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	18	0	1	0
chr20	23493054	23493054	A	G	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.A328G:p.N110D,CST8:NM_005492:exon3:c.A328G:p.N110D	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00200584022535	0.0002	0.000798722	0.0006	0	0.0002	0	0.0002	0.0006	0	0.0021	0.0005304	82	154602	rs200703356	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0019	0.0018	0	0.0002	0.0010	0	9.387e-05	0.0030	0.0002	0.0007	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	0	0	6.541e-05	0	0	0	0.0102	0.0002	0.0005	0.0025	0.912	0.02442	T	0.712	0.05622	T	0.01	0.15535	B	0.025	0.20508	B	0.738246	0.09798	N	0.875959	1	0.08975	N	0.635	0.15989	N	2.63	0.14038	T	-0.27	0.13226	N	0.172	0.18376	-0.9242	0.44971	T	0.020	0.08313	T	10	0.005273968	0.00115	T	0.002006	0.03615	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.12202034405938092	0.12129	0.00144250031491	0.00121	0.495035260916	0.38137	T	0.039595	0.25243	T	-0.706336	0.00033	T	-0.793855	0.02060	T	0.0121895960997703	0.00196	T	0.307569	0.05925	T	0.065364726	0.13961	0.05466826	0.09447	0.065364726	0.13960	0.05466826	0.09447	-2.849	0.08643	T	.	.	0.090	0.15788	B	.;.	.;.	1.317747	0.17215	13.03	0.24084020744119419	0.01048	0.04365	0.09937	N	AEFBHCI	0.036195	0.04783	N	-1.23948757390638	0.04439	0.2003709	-1.24361823320199	0.05227	0.2485129	8.7921585068858E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	0.972	0.18824	1.117000	0.30848	1.928000	0.29753	-0.057000	0.16691	0.030000	0.20431	0.006000	0.19429	0.002000	0.04165	0.6945:0.0:0.3055:0.0	6.210	0.19839	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1032.33	33	chr20	23493054	.	A	G	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.159;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.46;SOR=0.764	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1292	18	0	1	0
chr20	23637652	23637652	G	C	exonic	CST3	.	nonsynonymous SNV	CST3:NM_000099:exon1:c.C211G:p.R71G,CST3:NM_001288614:exon1:c.C211G:p.R71G	Cerebral amyloid angiopathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0376390328082	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs11542364	1.453e-06	2.052e-06	1.434e-06	1.473e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.339e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.024	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000249	0.46924	D	0.147583	0.99857	0.45107	D	2.905	0.84014	M	1.68	0.27184	T	-5.75	0.87760	D	0.581	0.62018	-0.8805	0.49722	T	0.146	0.46950	T	10	0.76754254	0.76822	D	0.037639	0.57738	D	0.327	0.64926	0.713	0.84872	0.440604514059	0.43682	0.7837560347771501	0.78326	1.47327362475	0.86575	0.652187347412	0.60297	T	0.312734	0.68453	T	-0.00867535	0.50450	T	-0.250238	0.49793	T	0.995801150798798	0.88102	D	0.756024	0.37907	T	0.97368973	0.98593	0.94311076	0.97969	0.97368973	0.98593	0.94311076	0.97970	-8.643	0.65372	D	0.6395323822536882	0.71003	0.778	0.76709	P	.;.;.	.;.;.	5.065359	0.84448	28.3	0.9957085000544158	0.72379	0.89315	0.49705	D	ALL	0.825544	0.74521	D	0.365942936556467	0.59587	4.139243	0.221293076720113	0.51029	3.289212	0.99999999999998	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.92	3.92	0.44525	3.209000	0.50824	3.240000	0.36960	0.511000	0.23309	0.982000	0.35529	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.331	0.48714	940	0.13648	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	35	chr20	23637652	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=756;ExcessHet=0;FS=5.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.25;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1205	18	0	1	0
chr20	23749122	23749122	C	G	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon2:c.G236C:p.G79A	.	425	1070	26	0	1	27	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0102	0.00738818	0.0051	0.0220	0.0042	0	0	0.0049	0.0077	0.0005	0.0048059	743	154602	rs112232806	0.0039	0.0039	0.0039	0.0038	0.0290	0.0038	0.0037	0.0254	0.0240	0.0210	0.0053	0.0332	0.0003	9.36e-05	0.0290	0.0028	0.0084	0.0008	0.0088	0.0088	0.0089	0.0086	0.0206	0.0084	0.0082	0.0194	0.0190	0.0206	0	0.0061	0.0349	0.0004	0	0.0170	0.0034	0.0128	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.580686	0.11146	N	0.783801	1	0.08975	N	-2.255	0.00107	N	2.22	0.18248	T	1.8	0.00513	N	0.071	0.04426	-0.9832	0.34258	T	0.003	0.00929	T	10	0.005386919	0.00118	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.10927638088841515	0.10856	0.00328536659782	0.00279	0.500672876835	0.38922	T	0.005064	0.04495	T	-0.776028	0.00012	T	-0.87123	0.00731	T	0.00316472053368909	0.00033	T	0.0925907	0.00686	T	0.05093327	0.09278	0.036334567	0.03060	0.05093327	0.09277	0.036334567	0.03059	-0.572	0.00629	T	.	.	0.073	0.04806	B	.;.	.;.	-1.652648	0.00215	0.003	0.24474587781037138	0.01084	0.00065	0.00468	N	AEFDBHCI	0.009965	0.00064	N	-2.20452520438098	0.00075	0.003204316	-2.16687334230378	0.00133	0.005835719	0.0010579571319597	0.08170	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	1.72	-1.6	0.07977	-0.774000	0.04790	-0.811000	0.07334	-9.448000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1605:0.2346:0.3698:0.2351	0.849	0.01095	964	0.07719	Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin domain;Cystatin domain|Proteinase inhibitor I25, cystatin, conserved site|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	8780.83	39	chr20	23749122	.	C	G	8780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.559;DP=1493;ExcessHet=0.119;FS=1.752;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.2;MQRankSum=-0.363;QD=10.68;ReadPosRankSum=1.28;SOR=0.822	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	17	0	2	0
chr20	23750716	23750716	C	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.G151A:p.A51T	.	.	.	.	.	.	.	.	.	.	.	3654817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00233310803792	.	.	8.238e-05	0	0	0	0	5.994e-05	0	0.0004	6.47e-05	10	154602	rs763214720	6.567e-05	6.567e-05	6.398e-05	6.738e-05	0.0003	5.495e-05	5.107e-05	0.0002	0.0002	2.987e-05	8.944e-05	0	5.038e-05	0	0	5.576e-05	6.623e-05	0.0003	9.862e-05	9.851e-05	0.0001	6.73e-05	0.0004	6.01e-05	4.883e-05	7.301e-05	4.239e-05	4.831e-05	0	0.0002	0	0	0	0	0.0001	0	0.0004	0.036	0.43393	D	0.08	0.41913	T	0.998	0.73220	D	0.834	0.59825	P	0.000000	0.84330	D	0.000000	0.999999	0.08975	N	2.695	0.78878	M	1.55	0.29866	T	-3.73	0.70920	D	0.465	0.50508	-1.0052	0.28397	T	0.140	0.45960	T	10	0.30809256	0.48307	T	0.002333	0.04507	T	0.121	0.33580	.	.	0.210429274316	0.20668	0.5069447877639842	0.50616	0.00602193082573	0.00527	0.428341329098	0.28982	T	0.189244	0.54341	T	-0.34985	0.04736	T	-0.434335	0.29443	T	0.603606522083282	0.36544	D	0.679032	0.28770	T	0.33973426	0.56259	0.34128043	0.59870	0.33973426	0.56259	0.34128043	0.59869	-8.289	0.63022	D	.	.	0.406	0.60057	A	.;.	.;.	1.707023	0.21738	15.33	0.99643352846819877	0.76819	0.01743	0.05498	N	AEFDBI	0.020159	0.00768	N	-0.254596067018018	0.30920	1.728722	-0.557230283086106	0.20614	1.11143	0.00217014375759004	0.09203	0.615465	0.37627	0	0.573888	0.26702	0	0.693144	0.63139	0	0.655142	0.61905	0	.	.	1.72	1.72	0.23498	1.215000	0.32035	-0.740000	0.07623	-1.303000	0.01242	0.117000	0.23121	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	6.837	0.23124	964	0.07719	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3531.33	35	chr20	23750716	.	C	T	3531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=924;ExcessHet=0;FS=5.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.056;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr20	23750730	23750730	C	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.G137A:p.R46H	.	425	1092	5	0	0	5	0.00228415	.	.	.	3654819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.0014985355849	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs572086468	0.0001	0.0001	7.895e-05	0.0001	0.0012	9.94e-05	9.348e-05	0.0010	0.0009	2.987e-05	6.708e-05	0	0	1.872e-05	0.0012	4.227e-05	0.0001	0.0012	0.0001	0.0001	0.0002	0.0001	0.0014	9.741e-05	8.256e-05	0.0007	0.0005	0.0001	0	0	0	0	0	0.0034	0.0001	0	0.0014	0.056	0.38185	T	0.206	0.27056	T	0.023	0.18885	B	0.014	0.16862	B	0.964994	0.08198	N	0.983219	1	0.08975	N	1.19	0.30124	L	1.75	0.26152	T	-2.43	0.53258	N	0.096	0.08088	-0.9836	0.34164	T	0.045	0.19437	T	10	0.025163978	0.00719	T	0.001499	0.02318	T	0.016	0.02506	.	.	0.0611884634855	0.05136	0.18937155416011522	0.18855	0.00297943625154	0.00257	0.293706059456	0.09466	T	0.026375	0.19532	T	-0.580078	0.00192	T	-0.678823	0.07056	T	0.0225257177841079	0.00968	T	0.306769	0.05902	T	0.052741386	0.09880	0.06278556	0.12336	0.052741386	0.09880	0.06278556	0.12336	-4.994	0.36775	T	.	.	0.102	0.17911	B	.;.	.;.	0.238057	0.06184	2.635	0.94436655549812709	0.24855	0.00070	0.00494	N	AEFDBI	0.017732	0.00486	N	-1.47963471319756	0.01994	0.08759602	-1.62429769921223	0.01514	0.06855978	0.00627083519323068	0.11171	0.615465	0.37627	0	0.573888	0.26702	0	0.693144	0.63139	0	0.655142	0.61905	0	.	.	2.02	-4.04	0.03741	-0.358000	0.07692	-6.187000	0.01471	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7116:0.0:0.2884	8.108	0.30061	964	0.07719	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3619.33	35	chr20	23750730	.	C	T	3619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=1008;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.053;SOR=0.78	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	18	0	1	0
chr20	23750833	23750833	G	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.C34A:p.L12M	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0012569214424	0.0006	0.000599042	0.0007	0.0008	0.0003	0.0001	0	0.0009	0.0024	0.0006	0.0005692	88	154602	rs150586879	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0015	0.0006	0.0002	0.0011	7.559e-05	0.0001	0.0030	0.0004	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0005	0.0005	0.0007	0	0.0005	0.0009	0	9.416e-05	0.0136	0.0005	0.0009	0.0002	0.01	0.56456	D	0.03	0.54159	D	0.994	0.66517	D	0.953	0.69275	D	0.361657	0.13661	N	0.670498	1	0.08975	N	1.465	0.36909	L	2.72	0.11947	T	-1.29	0.32387	N	0.369	0.42931	-1.0477	0.15045	T	0.032	0.13548	T	10	0.026234835	0.00795	T	0.001257	0.01708	T	0.061	0.17616	.	.	0.101711395817	0.09552	0.34399031918310885	0.34313	0.00346480532179	0.00296	0.568508863449	0.48467	T	0.066151	0.32870	T	-0.516452	0.00461	T	-0.560175	0.16359	T	0.00385100617712939	0.00041	T	0.373463	0.08871	T	0.19450532	0.41203	0.10661282	0.25653	0.19450532	0.41203	0.10661282	0.25652	-5.235	0.39295	T	.	.	0.130	0.27851	B	.;.	.;.	1.245230	0.16411	12.52	0.87107969268407048	0.16993	0.03952	0.09354	N	AEFBI	0.028577	0.02542	N	-0.549153971260669	0.20510	1.08175	-0.766212382557134	0.15325	0.8053918	7.94008781674638E-5	0.04552	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	1.38	0.296	0.15006	0.377000	0.20282	-0.632000	0.08120	0.453000	0.21368	0.027000	0.20232	0.000000	0.08366	0.010000	0.09038	0.2467:0.0:0.7533:0.0	4.093	0.09454	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1969.33	126	chr20	23750833	.	G	T	1969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.474;DP=1448;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-7.691;QD=14.81;ReadPosRankSum=-0.936;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:119,0:119:99:.:.:0,120,1800:.	18	0	1	0
chr20	23750851	23750851	T	A	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A16T:p.S6C	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00119544460621	0.0006	0.000798722	0.0007	0.0001	0.0003	0	0	0.0009	0.0024	0.0012	0.0005757	89	154602	rs143142026	0.0006	0.0007	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0001	0.0002	0.0011	5.042e-05	0.0002	0.0028	0.0006	0.0007	0.0008	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	0.0001	0	6.535e-05	0.0009	0.0004	9.413e-05	0.0136	0.0007	0.0005	0.0006	0.193	0.20912	T	0.19	0.28482	T	0.0	0.02946	B	0.0	0.01387	B	0.340928	0.13964	N	0.703773	1	0.08975	N	-0.715	0.01801	N	3.13	0.08014	T	0.57	0.02638	N	0.078	0.07125	-0.9645	0.38310	T	0.009	0.03359	T	10	0.008056223	0.00183	T	0.001195	0.01533	T	0.013	0.01715	.	.	0.0297737177859	0.01360	0.2184328436087238	0.21759	0.00346480532179	0.00296	0.550261557102	0.45895	T	0.015747	0.13146	T	-0.670961	0.00054	T	-0.804042	0.01803	T	0.00189745476851451	0.00019	T	0.279272	0.04852	T	0.04289028	0.06586	0.03689424	0.03230	0.04289028	0.06586	0.03689424	0.03229	-5.218	0.39124	T	.	.	0.056	0.00461	B	.;.	.;.	-0.688328	0.01347	0.075	0.36362495177186138	0.02335	0.00172	0.01016	N	AEFBI	0.016874	0.00407	N	-1.70873522177234	0.00811	0.0350722	-1.76582532263667	0.00875	0.03911144	9.34048683934066E-5	0.04910	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-1.08	0.09428	-1.614000	0.02160	-5.476000	0.01704	-3.377000	0.00091	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2212:0.0:0.4702:0.3086	2.02	0.03293	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	126	chr20	23750851	.	T	A	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=1428;ExcessHet=0;FS=0.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-8.18;QD=14.39;ReadPosRankSum=-0.721;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:119,0:119:99:.:.:0,120,1800:.	18	0	1	0
chr20	23750856	23750856	T	G	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A11C:p.Y4S	.	407	1107	8	0	0	8	0.00360036	.	.	.	2764648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.000954764657993	.	.	0.0004	0.0001	0.0003	0	0	0.0006	0.0024	0.0003	1.29e-05	2	154602	rs772372352	0.0003	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	5.988e-05	0.0002	0.0010	5.045e-05	0.0001	0.0024	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	6.534e-05	0.0009	0	9.414e-05	0.0136	0.0005	0.0005	0.0004	0.365	0.11732	T	0.227	0.25362	T	0.0	0.02946	B	0.0	0.01387	B	0.892372	0.08678	N	0.950640	1	0.08975	N	-0.895	0.01383	N	3.26	0.06681	T	1.39	0.00846	N	0.066	0.04307	-0.9387	0.42822	T	0.008	0.02842	T	10	0.021623433	0.00521	T	9.55E-4	0.00957	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.3379246054040899	0.33705	0.00276857529848	0.00238	0.407945811749	0.26172	T	0.008785	0.08043	T	-0.623337	0.00105	T	-0.772363	0.02691	T	0.0118878275907535	0.00185	T	0.408959	0.10549	T	0.04658838	0.07824	0.03192554	0.01852	0.04658838	0.07824	0.03192554	0.01852	-0.782	0.00788	T	.	.	0.056	0.00461	B	.;.	.;.	-0.463094	0.01987	0.174	0.27515494870714213	0.01369	0.00012	0.00170	N	AEFBI	0.012438	0.00136	N	-1.92980782500958	0.00298	0.01278811	-1.98814669991342	0.00324	0.01432601	2.83568854885797E-4	0.06355	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-2.77	0.05529	-0.774000	0.04790	-5.515000	0.01691	-1.185000	0.01382	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3683:0.0:0.3788:0.2529	2.077	0.03406	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	126	chr20	23750856	.	T	G	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=1423;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.7;MQRankSum=-8.576;QD=13.53;ReadPosRankSum=0.201;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:119,0:119:99:.:.:0,120,1800:.	18	0	1	0
chr20	23750859	23750859	T	C	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A8G:p.Q3R	.	408	1106	8	0	0	8	0.0036036	.	.	.	3245950	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00139727705585	.	.	0.0006	0.0001	0.0005	0	0	0.0008	0.0032	0.0005	1.29e-05	2	154602	rs776620783	0.0004	0.0005	0.0004	0.0004	0.0028	0.0004	0.0003	0.0018	0.0014	9.004e-05	0.0003	0.0010	5.054e-05	0.0001	0.0028	0.0004	0.0006	0.0004	0.0004	0.0005	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	9.63e-05	0	0.0004	0.0006	0	9.413e-05	0.0136	0.0005	0.0014	0.0006	0.799	0.03125	T	0.794	0.04142	T	0.016	0.17332	B	0.004	0.10090	B	0.046406	0.01959	N	2.854450	1	0.08975	N	-0.665	0.02058	N	3.28	0.06523	T	0.02	0.06739	N	0.038	0.01658	-0.9541	0.40256	T	0.008	0.02926	T	10	0.017624557	0.00378	T	0.001397	0.02062	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.12296962277804015	0.12222	0.0033011964445	0.00282	0.403690457344	0.25582	T	0.007974	0.07338	T	-0.692475	0.00040	T	-0.872785	0.00716	T	0.00375703664831844	0.00040	T	0.162284	0.01468	T	0.025980104	0.01598	0.028780734	0.01146	0.025980104	0.01597	0.028780734	0.01146	-1.961	0.03037	T	.	.	0.053	0.00269	B	.;.	.;.	-0.803279	0.01100	0.049	0.18941490666172831	0.00618	0.00021	0.00226	N	AEFBI	0.015135	0.00274	N	-2.40604054364407	0.00026	0.001133445	-2.4816404248532	0.00025	0.001127038	0.809698396723169	0.24333	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-2.77	0.05529	-4.641000	0.00236	-13.851000	0.00435	-4.825000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1423:0.3742:0.2128:0.2707	1.293	0.01939	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1254.33	45	chr20	23750859	.	T	C	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=969;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-8.8;QD=12.3;ReadPosRankSum=1.32;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	18	0	1	0
chr20	24970239	24970239	C	T	exonic	APMAP	.	nonsynonymous SNV	APMAP:NM_020531:exon6:c.G671A:p.R224Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	3289773	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0122538035884	.	.	4.119e-05	0	8.637e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs779248044	1.163e-05	1.163e-05	1.361e-05	9.625e-06	8.944e-05	7.08e-06	5.79e-06	2.995e-05	2.038e-05	2.987e-05	8.944e-05	0	0	0	0	4.496e-06	1.656e-05	6.956e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.037	0.43085	D	0.145	0.33000	T	0.843	0.46605	P	0.316	0.41603	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.585	0.39878	L	0.8	0.48769	T	-1.89	0.44094	N	0.199	0.21969	-0.9595	0.39274	T	0.171	0.51293	T	10	0.23790279	0.40900	T	0.012254	0.30654	T	0.084	0.24469	.	.	0.671057921682	0.66827	0.5572180147274604	0.55648	0.333103512949	0.35346	0.379704803228	0.22215	T	0.015481	0.12979	T	-0.11276	0.34315	T	-0.140069	0.60112	T	0.285094874210561	0.24385	T	0.90391	0.66280	D	0.42437226	0.62382	0.25989476	0.51745	0.42437226	0.62382	0.25989476	0.51744	-7.619	0.58443	D	.	.	0.137	0.29833	B	.	.	3.881568	0.56424	23.7	0.99925834036121386	0.99042	0.97868	0.77733	D	AEFDGBI	0.737212	0.68248	D	0.302187631033487	0.56259	3.790517	0.37817932006277	0.60221	4.207413	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	3.894000	0.55963	1.764000	0.28577	0.592000	0.32167	1.000000	0.71638	0.989000	0.31174	0.890000	0.42831	0.0:1.0:0.0:0.0	17.599	0.87918	698	0.58074	Strictosidine synthase, conserved region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1418.33	42	chr20	24970239	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.567;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1128	18	0	1	0
chr20	25078783	25078783	C	G	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_199425:exon3:c.G673C:p.V225L	Keratoconus 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0401855078385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.09746	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-2.9	0.91643	D	0.18	0.05035	N	0.033	0.00882	-0.5459	0.66941	T	0.522	0.82158	D	8	0.04878807	0.04377	T	0.040186	0.59235	D	0.155	0.40530	0.19	0.10039	0.577006569591	0.57369	.	.	.	.	.	.	.	.	.	.	-0.220464	0.17930	T	-0.554458	0.16900	T	0.025669625332625	0.01362	T	0.258474	0.04102	T	.	.	.	.	.	.	.	.	-2.388	0.05060	T	.	.	0.126	0.26576	B	.	.	-0.903036	0.00921	0.035	0.7538843546215398	0.11056	0.01108	0.04057	N	AEFDBI	0.037954	0.05297	N	-1.48896318028788	0.01927	0.08458847	-1.626463129932	0.01502	0.06800164	0.999998543501183	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.46	-5.24	0.02576	-1.383000	0.02650	-3.484000	0.02751	-0.923000	0.02187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1267:0.1869:0.3983:0.2881	1.997	0.03249	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	77	chr20	25078783	.	C	G	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=1308;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=1.36;SOR=0.846	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chr20	25476122	25476122	C	T	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3169A:p.D1057N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00796704052043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.133	0.34359	T	0.675	0.41275	P	0.133	0.33073	B	0.823206	0.09162	N	0.923379	1	0.08975	N	1.65	0.42232	L	3.42	0.05507	T	-1.52	0.36980	N	0.121	0.11197	-0.9474	0.41414	T	0.011	0.04321	T	10	0.0941467	0.16718	T	0.007967	0.21136	T	0.076	0.22200	0.092	0.01108	0.110078149338	0.10416	0.19311666960861867	0.19229	0.198273402423	0.22208	0.406642735004	0.25992	T	0.008191	0.07532	T	-0.361732	0.04033	T	-0.75738	0.03207	T	0.215428054332733	0.21233	T	0.622538	0.23960	T	0.06391485	0.13507	0.048494313	0.07215	0.06391485	0.13506	0.048494313	0.07215	-3.965	0.23278	T	.	.	0.089	0.12276	B	.	.	1.496019	0.19239	14.16	0.98866923820823127	0.47580	0.04770	0.10480	N	AEFDBI	0.033156	0.03879	N	-0.630879929709669	0.18021	0.9322891	-0.678397698456998	0.17501	0.9308871	0.006927649907012	0.11343	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	3.89	0.44098	1.089000	0.30501	0.676000	0.20636	0.518000	0.23583	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.1799:0.6462:0.174:0.0	8.160	0.30352	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	97	chr20	25476122	.	C	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.291;DP=955;ExcessHet=0;FS=77.348;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.81;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1229:.	18	0	1	0
chr20	25476125	25476125	C	G	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3166C:p.D1056H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00580734277635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	0.0001	4.096e-06	1.378e-06	2.996e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.996e-05	0	0	0	0	0	2.705e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.059	0.45961	T	0.96	0.55278	D	0.528	0.48482	P	0.195985	0.03284	N	1.533750	1	0.08975	N	1.1	0.28011	L	3.43	0.05440	T	-1.49	0.36385	N	0.129	0.12341	-0.9491	0.41126	T	0.019	0.07939	T	10	0.09664118	0.17349	T	0.005807	0.15101	T	0.135	0.36572	0.102	0.01589	0.139678290688	0.13603	0.2245921728800243	0.22374	0.339693499152	0.35915	0.40783894062	0.26157	T	0.007317	0.06733	T	-0.291793	0.09456	T	-0.656917	0.08476	T	0.402543991804123	0.29038	T	0.442656	0.12286	T	0.06996419	0.15370	0.08780965	0.20434	0.06996419	0.15370	0.08780965	0.20433	-3.567	0.17381	T	.	.	0.100	0.17189	B	.	.	0.742675	0.11122	7.766	0.97284830686555801	0.33200	0.03605	0.08835	N	AEFDBI	0.035488	0.04577	N	-0.788677093669439	0.13605	0.6714041	-0.963758661792625	0.10606	0.5351989	7.78442458984282E-4	0.07793	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	-1.14	0.09241	-0.102000	0.10926	-0.047000	0.12595	-0.286000	0.06345	0.001000	0.13787	0.000000	0.08366	0.034000	0.13613	0.0:0.5623:0.0:0.4377	9.381	0.37474	575	0.70088	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	121.37	97	chr20	25476125	.	C	G	121.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.013;DP=2042;ExcessHet=0;FS=79.199;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.03;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1229:.	18	0	1	0
chr20	25476126	25476126	C	G	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3165C:p.K1055N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00678019466524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	3.147e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.045	0.49390	D	0.963	0.55692	D	0.441	0.45749	B	0.120082	0.19049	N	0.529823	1	0.08975	N	1.445	0.36358	L	3.32	0.06214	T	-0.96	0.25551	N	0.131	0.12627	-0.9726	0.36648	T	0.013	0.05225	T	10	0.09060073	0.15797	T	0.00678	0.17925	T	0.051	0.14325	0.132	0.03662	0.148003135375	0.14442	0.42843932893969394	0.42760	0.366699152887	0.38238	0.450374722481	0.31994	T	0.024846	0.18695	T	-0.308192	0.07907	T	-0.680473	0.06954	T	0.297192245721817	0.24887	T	0.50025	0.15636	T	0.18675041	0.40098	0.09504615	0.22525	0.18675041	0.40098	0.09504615	0.22525	-5.633	0.43093	T	.	.	0.393	0.59205	A	.	.	1.866351	0.23708	16.12	0.95538986232915568	0.27183	0.09547	0.15278	N	AEFDBI	0.034554	0.04300	N	-0.521315702925878	0.21391	1.134904	-0.665479994039055	0.17826	0.9496135	0.00116869539571096	0.08293	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	2.09	0.26154	0.634000	0.24304	0.352000	0.17487	0.518000	0.23583	0.004000	0.16614	0.000000	0.08366	0.042000	0.14466	0.0:0.661:0.0:0.339	6.851	0.23196	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	124.7	97	chr20	25476126	.	C	G	124.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.573;DP=2072;ExcessHet=0;FS=79.199;InbreedingCoeff=-0.1344;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.13;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,2072:.	11	0	1	7
chr20	25478956	25478956	G	A	exonic	NINL	.	nonsynonymous SNV	NINL:NM_001318226:exon16:c.C2168T:p.A723V,NINL:NM_025176:exon16:c.C2168T:p.A723V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00573707284125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.605e-06	8.209e-06	1.388e-06	9.906e-06	3.537e-05	2.41e-06	1.74e-06	9.4e-06	4.61e-06	0	0	0	0	0	0	4.565e-06	0	3.537e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.276	0.21947	T	0.025	0.25085	B	0.021	0.24114	B	0.000241	0.00537	N	3.458170	1	0.08975	N	0.46	0.12951	N	1.54	0.33630	T	-1.11	0.28703	N	0.145	0.14622	-1.0454	0.15709	T	0.061	0.25455	T	10	0.043334424	0.03172	T	0.005737	0.14892	T	0.034	0.08419	0.239	0.17065	0.112648838833	0.10856	0.11576815670269436	0.11504	0.127220965103	0.14337	0.393802165985	0.24204	T	0.003884	0.03292	T	-0.211874	0.19117	T	-0.542119	0.18088	T	0.133775161735284	0.15726	T	0.587941	0.21519	T	0.021786185	0.00800	0.05039239	0.07900	0.021786185	0.00800	0.05039239	0.07900	-4.77	0.34240	T	.	.	0.210	0.43748	B	.;.	.;.	2.323616	0.29754	18.22	0.99456806883462068	0.65581	0.10697	0.16129	N	AEFDBI	0.048004	0.08146	N	-1.03271723652205	0.07931	0.370134	-1.02186484631273	0.09305	0.4621772	0.999371387360646	0.39355	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.15	2.19	0.26890	0.518000	0.22554	5.602000	0.49028	-0.109000	0.15193	0.104000	0.22875	1.000000	0.68203	0.094000	0.17991	0.1045:0.0:0.697:0.1985	5.375	0.15460	575	0.70088	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3415.81	35	chr20	25478956	.	G	A	3415.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.5;SOR=0.884	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1325	18	1	0	0
chr20	25675129	25675129	C	T	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.G2159A:p.R720Q,ZNF337:NM_015655:exon5:c.G2159A:p.R720Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0068	0.00658946	0.0019	0.0216	0.0004	0	0	4.496e-05	0	6.056e-05	0.0018046	279	154602	rs35755622	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0006	3.826e-05	0	0	0.0014	5.486e-05	0.0015	3.478e-05	0.0053	0.0053	0.0053	0.0053	0.0189	0.0050	0.0049	0.0178	0.0173	0.0189	0	0.0008	0	0	0	0.0068	4.41e-05	0.0033	0	0.005	0.63226	D	0.004	0.74150	D	0.375	0.34209	B	0.024	0.20255	B	.	.	.	.	0.999997	0.08975	N	1.435	0.35949	L	2.18	0.18875	T	-1.13	0.29114	N	0.173	0.18920	-1.0402	0.17253	T	0.014	0.05608	T	9	0.0027193725	0.00042	T	.	.	.	0.040	0.10527	.	.	0.242825505644	0.23883	0.018576244144797138	0.01811	0.236008608382	0.26139	0.272094726562	0.06416	T	0.005281	0.04730	T	-0.630363	0.00095	T	-0.661993	0.08132	T	0.0334745109723438	0.02549	T	0.847515	0.52873	T	0.045550678	0.07475	0.0495748	0.07604	0.045550678	0.07474	0.0495748	0.07603	-5.351	0.40445	T	.	.	0.129	0.28348	B	.;.	.;.	2.666017	0.34745	19.71	0.99794863729858374	0.88017	0.05058	0.10848	N	AEFBCI	0.016368	0.00364	N	-0.900102105817737	0.10840	0.520025	-1.01853527365864	0.09378	0.4662114	0.671141920109219	0.22376	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	1.31	-0.974	0.09767	-0.275000	0.08557	-3.618000	0.02653	-0.334000	0.05750	0.014000	0.18986	0.000000	0.08366	0.005000	0.06747	0.0:0.4118:0.0:0.5882	5.024	0.13716	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.010101	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2738.33	34	chr20	25675129	.	C	T	2738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.216;DP=843;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.44;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	18	0	1	0
chr20	31389197	31389197	A	C	exonic	DEFB119	.	nonsynonymous SNV	DEFB119:NM_001271209:exon2:c.T92G:p.L31W,DEFB119:NM_153323:exon2:c.T95G:p.L32W	.	425	1054	43	0	0	43	0.0199907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0173536340056	0.0008	0.000599042	0.0015	0.0002	0.0008	0	0.0002	0.0015	0.0033	0.0042	0.0013325	206	154602	rs149638804	0.0011	0.0011	0.0009	0.0012	0.0147	0.0010	0.0010	0.0122	0.0113	0.0002	0.0011	0.0021	0	0	0.0147	0.0008	0.0014	0.0042	0.0012	0.0012	0.0012	0.0012	0.0046	0.0011	0.0010	0.0031	0.0026	0.0002	0.0307	0.0009	0.0020	0	0	0.0272	0.0013	0.0024	0.0046	0.004	0.65419	D	0.079	0.42086	T	0.979	0.59044	D	0.852	0.60758	P	0.073950	0.02282	N	2.139760	1	0.81001	D	.	.	.	2.77	0.11407	T	-2.5	0.54382	D	0.397	0.43803	-1.0844	0.06517	T	0.064	0.26456	T	9	0.009447515	0.00213	T	0.017354	0.39013	T	0.097	0.27909	.	.	0.294918367191	0.29099	0.2662954234473289	0.26542	0.606481293872	0.55497	0.317646145821	0.13064	T	.	.	.	-0.563576	0.00242	T	-0.582595	0.14315	T	0.059819819044045	0.07140	T	0.375062	0.08943	T	.	.	.	.	.	.	.	.	-3.818	0.21074	T	.	.	0.297	0.52784	B	.	.	2.888993	0.38257	20.7	0.95847270020322906	0.27981	0.67904	0.33603	D	AEFDGBI	0.278729	0.39294	N	0.274980705534324	0.54884	3.653015	0.210978325622909	0.50456	3.237452	1.8891463729329E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.87	2.75	0.31439	2.031000	0.40737	6.506000	0.55795	0.756000	0.94297	0.957000	0.33433	1.000000	0.68203	0.897000	0.43391	0.7792:0.2208:0.0:0.0	7.455	0.26434	519	0.74455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.010101	0.008152	0.014620	0.000000	0.000000	0.009146	0.000000	0.02632	667.33	61	chr20	31389197	.	A	C	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=700;ExcessHet=0;FS=5.31;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.447;SOR=1.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	18	0	1	0
chr20	31544963	31544963	T	A	exonic	HM13	.	nonsynonymous SNV	HM13:NM_030789:exon4:c.T382A:p.F128I,HM13:NM_178580:exon4:c.T382A:p.F128I,HM13:NM_178581:exon4:c.T382A:p.F128I	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00219649	0.0011	0	0.0003	0	0	0.0001	0.0022	0.0071	0.0009185	142	154602	rs184082131	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	0	6.709e-05	0	2.519e-05	0	0.0012	6.565e-05	0.0005	0.0063	0.0002	0.0002	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0.0034	4.41e-05	0	0.0068	0.35	0.14449	T	0.375	0.16425	T	0.001	0.07471	B	0.006	0.12133	B	0.000068	0.52346	D	0.204862	0.99121	0.41334	D	-0.73	0.01772	N	2.27	0.17431	T	1.13	0.01182	N	0.35	0.39153	-1.0158	0.25078	T	0.021	0.08686	T	10	0.0054542124	0.00120	T	.	.	.	0.047	0.12962	.	.	0.128874641272	0.12493	0.40138406608135546	0.40053	0.874299983305	0.69511	0.50938808918	0.40136	T	0.061349	0.31630	T	-0.542017	0.00326	T	-0.547621	0.17555	T	0.0499496267034193	0.05492	T	0.865913	0.56597	D	0.13549691	0.31444	0.11208831	0.27043	0.13549691	0.31444	0.11208831	0.27043	-3.538	0.17395	T	.	.	0.060	0.05579	B	.;.;.;.;.	.;.;.;.;.	2.907202	0.38547	20.8	0.96271308213752815	0.29250	0.85468	0.44603	D	AEDBI	0.337218	0.43509	N	-0.384352226867468	0.26026	1.417295	-0.140040257552937	0.33795	1.936882	0.999999969001588	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	1.702000	0.37455	4.954000	0.46300	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.842	0.57194	711	0.56613	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.005102	0.000000	0.002924	0.000000	0.008621	0.000000	0.011364	0.05263	3347.81	34	chr20	31544963	.	T	A	3347.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.43;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1426	18	1	0	0
chr20	31861644	31861644	T	A	exonic	DUSP15	.	nonsynonymous SNV	DUSP15:NM_001012644:exon7:c.A158T:p.E53V,DUSP15:NM_001320478:exon7:c.A458T:p.E153V,DUSP15:NM_080611:exon7:c.A467T:p.E156V,DUSP15:NM_177991:exon7:c.A158T:p.E53V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.111758020705	.	0.00119808	0.0018	0	0	0	0	0	0	0.0026	0.0001811	28	154602	rs572500091	0.0001	0.0001	7.617e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	5.716e-05	5.608e-05	1.386e-05	0.0001	0.0018	2.754e-05	2.072e-05	0.0008	0.0006	0	0	0	0	0.0003	0	0	0	0	0.0018	0.025	0.48642	D	0.325	0.32249	T	0.055	0.22733	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	0.77	0.49642	T	-3.95	0.73477	D	0.26	0.30347	-1.0576	0.12362	T	0.072	0.29387	T	8	0.010066718	0.00225	T	0.111758	0.78965	D	0.025	0.05312	0.321	0.30064	0.408714661073	0.40485	.	.	0.255360491483	0.28129	0.565140008926	0.47992	T	.	.	.	-0.4408	0.01279	T	-0.412431	0.31944	T	0.152144544135135	0.17273	T	0.79912	0.44420	T	.	.	.	.	.	.	.	.	-2.899	0.45393	T	.	.	0.165	0.36375	B	.;.;.;.;.	.;.;.;.;.	3.323908	0.45731	22.2	0.97795185096491721	0.36027	0.29165	0.23749	N	ALL	0.142311	0.26471	N	-0.360034534218825	0.26905	1.472056	-0.298967899182287	0.28132	1.566171	0.999999903837322	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.47417	0.07244	0	0.603991	0.37454	0	.	.	4.06	2.85	0.32333	1.621000	0.36597	4.601000	0.43997	0.519000	0.23678	0.182000	0.24089	1.000000	0.68203	0.879000	0.42020	0.1989:0.0:0.2059:0.5953	4.321	0.10459	656	0.62345	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	311.37	12	chr20	31861644	.	T	A	311.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.042;SOR=0.941	GT:AD:DP:GQ:PL	0/0:12,0:12:24:0,24,360	18	0	1	0
chr20	31908595	31908595	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001008409:exon5:c.G211A:p.G71R	.	428	1035	57	2	0	61	0.0286251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0053	0.0081869	0.0086	0.0010	0.0063	0.0001	0.0011	0.0086	0.0159	0.0214	0.0083375	1289	154602	rs184016363	0.0079	0.0080	0.0073	0.0085	0.0354	0.0078	0.0077	0.0315	0.0299	0.0018	0.0083	0.0189	5.04e-05	0.0012	0.0354	0.0071	0.0093	0.0219	0.0078	0.0079	0.0074	0.0083	0.0211	0.0075	0.0073	0.0192	0.0185	0.0015	0.0450	0.0211	0.0181	0	0.0007	0.0238	0.0086	0.0114	0.0176	0.487	0.08067	T	0.483	0.11795	T	0.923	0.51194	P	0.718	0.54779	P	0.086298	0.20595	U	0.329934	0.998888	0.45620	D	1.65	0.42232	L	3.88	0.03570	T	-2.21	0.49684	N	0.455	0.52829	-1.1231	0.02144	T	0.021	0.08686	T	10	0.0056295395	0.00125	T	.	.	.	0.140	0.37593	0.441	0.49648	0.395143324098	0.39128	0.5826443019191341	0.58193	0.448885401441	0.44700	0.709771215916	0.68561	T	0.028686	0.20722	T	-0.455574	0.01047	T	-0.410257	0.32195	T	0.0197168962272677	0.00673	T	0.936106	0.76057	D	0.16107745	0.36092	0.1941582	0.43024	0.16107745	0.36091	0.1941582	0.43023	-13.923	0.92804	D	.	.	0.523	0.65607	A	.;.	.;.	4.893081	0.80360	27.3	0.99869920406664692	0.94726	0.98532	0.83788	D	AEFDBI	0.916601	0.88303	D	0.525809447681056	0.68622	5.242455	0.570445247355899	0.72829	5.872178	0.999999999912735	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.307000	0.89885	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	15.387	0.74430	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.020202	0.029891	0.032164	0.100000	0.017241	0.012195	0.018939	0.02632	1044.33	33	chr20	31908595	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.566;SOR=0.77	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1344	18	0	1	0
chr20	31934705	31934705	C	T	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001367620:exon9:c.C527T:p.T176M,TTLL9:NM_001008409:exon12:c.C821T:p.T274M	.	429	1036	56	1	0	58	0.02723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0039	0.00399361	0.0053	0.0010	0.0021	0	0.0005	0.0047	0.0074	0.0180	0.0046959	726	154602	rs200691468	0.0047	0.0047	0.0044	0.0050	0.0164	0.0046	0.0046	0.0157	0.0154	0.0004	0.0029	0.0040	2.52e-05	0.0009	0.0113	0.0043	0.0047	0.0164	0.0036	0.0036	0.0034	0.0038	0.0176	0.0033	0.0032	0.0146	0.0135	0.0008	0	0.0054	0.0029	0	0.0008	0.0102	0.0046	0.0052	0.0176	0.108	0.29420	T	0.216	0.29249	T	0.001	0.07471	B	0.002	0.06944	B	0.001119	0.40219	N	0.283944	1	0.81001	D	1.43	0.35840	L	3.27	0.06602	T	-0.61	0.18042	N	0.158	0.19190	-1.0497	0.14481	T	0.022	0.09467	T	10	0.0064346194	0.00146	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.2951237345348873	0.29425	0.122821276038	0.13838	0.521163880825	0.41790	T	0.058118	0.30755	T	-0.594801	0.00157	T	-0.613541	0.11699	T	0.0106329223297711	0.00149	T	0.441356	0.15758	T	0.026107183	0.01626	0.050683945	0.08003	0.026107183	0.01626	0.050683945	0.08003	4.277	0.00007	T	.	.	0.061	0.01126	B	.;.;.	.;.;.	2.420018	0.31114	18.64	0.97587682729551706	0.34775	0.30085	0.23991	N	AEFDBI	0.089796	0.18201	N	-0.472294161085949	0.22991	1.231543	-0.345653793126946	0.26643	1.473012	0.851944230173689	0.25061	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	2.76	0.31527	1.255000	0.32512	3.451000	0.38447	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.2354:0.0:0.7646	8.488	0.32245	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010121	0.005102	0.005435	0.002941	0.050000	0.025862	0.021605	0.000000	0.05263	1594.83	33	chr20	31934705	.	C	T	1594.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=665;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.26;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	17	0	2	0
chr20	31934714	31934714	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001367620:exon9:c.G536A:p.R179H,TTLL9:NM_001008409:exon12:c.G830A:p.R277H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00628937022702	8.1e-05	0.000199681	9.491e-05	0.0003	0.0003	0	0	7.806e-05	0	0	8.41e-05	13	154602	rs373712171	5.824e-05	5.814e-05	4.635e-05	7.025e-05	0.0007	4.817e-05	4.438e-05	0.0002	0.0001	0.0001	0.0001	0	2.519e-05	0	0.0007	4.408e-05	9.968e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.71e-05	0.0003	0.0002	0.0002	0	6.534e-05	0	0.0002	0	0	8.819e-05	0.0009	0.0008	0.101	0.30375	T	0.09	0.40267	T	0.005	0.12996	B	0.007	0.12992	B	0.000316	0.45977	D	0.197212	0.984026	0.81001	D	0.39	0.12200	N	3.42	0.05507	T	-1.23	0.31170	N	0.197	0.28616	-1.0109	0.26635	T	0.015	0.05849	T	10	0.05055839	0.04807	T	0.006289	0.16522	T	0.071	0.20720	.	.	0.0954503805726	0.09146	0.3162699842153649	0.31539	0.148437288655	0.16742	0.4463301301	0.31442	T	0.012213	0.10776	T	-0.365045	0.03853	T	-0.482703	0.24159	T	0.046801533550024	0.04929	T	0.831917	0.49916	T	0.060463883	0.12410	0.058562808	0.10843	0.060463883	0.12410	0.058562808	0.10842	-9.286	0.69519	D	.	.	0.080	0.07697	B	.;.;.	.;.;.	3.188426	0.43307	21.7	0.99778284412078411	0.86519	0.70933	0.34798	D	AEFDBI	0.209338	0.33533	N	-0.063456803186685	0.39003	2.293223	0.117201953522243	0.45428	2.80618	0.998082794560298	0.36406	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	2.459000	0.44680	4.529000	0.43718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1689:0.0:0.8311:0.0	8.242	0.30825	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	423.33	33	chr20	31934714	.	G	A	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.882;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	18	0	1	0
chr20	32093983	32093983	G	A	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon11:c.G1150A:p.V384I,HCK:NM_001172130:exon11:c.G1210A:p.V404I,HCK:NM_001172131:exon11:c.G1147A:p.V383I,HCK:NM_002110:exon11:c.G1213A:p.V405I,HCK:NM_001172132:exon12:c.G1153A:p.V385I,HCK:NM_001172133:exon12:c.G1150A:p.V384I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0102868870351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490535900	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.38	0.15988	T	0.0	0.02946	B	0.002	0.10090	B	0.026375	0.25931	N	0.341443	1	0.08975	N	-0.115	0.04602	N	-1.63	0.82440	D	0.42	0.03352	N	0.12	0.11483	-0.9857	0.33663	T	0.215	0.57652	T	10	0.097780794	0.17634	T	0.010287	0.26654	T	0.196	0.47777	0.472	0.54699	0.203808441222	0.19973	0.10040487392163505	0.09971	.	.	0.462232530117	0.33616	T	0.157546	0.52804	T	-0.20173	0.20556	T	-0.527547	0.19532	T	0.29347562789917	0.24734	T	0.606339	0.22814	T	0.099707566	0.23535	0.092366755	0.21765	0.099707566	0.23535	0.092366755	0.21765	-4.337	0.28706	T	.	.	0.065	0.01909	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.583787	0.01616	0.111	0.82074166270825999	0.14005	0.03279	0.08322	N	AEFBIJ	0.128734	0.24662	N	-1.50048753848248	0.01847	0.08100644	-1.54825882582418	0.01988	0.09081245	0.999995229121778	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	4.54	-9.09	0.00613	-0.456000	0.06829	-1.328000	0.05705	-0.593000	0.04642	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.271:0.082:0.647:0.0	13.639	0.61707	444	0.79803	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;.;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1500.33	37	chr20	32093983	.	G	A	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=733;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.061;SOR=0.545	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1343	18	0	1	0
chr20	32310937	32310937	G	T	exonic	KIF3B	.	nonsynonymous SNV	KIF3B:NM_004798:exon2:c.G1160T:p.G387V	.	394	1127	1	0	0	1	0.000443459	.	.	.	3407860	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0187377366741	0.0002	.	3.3e-05	0	0	0	0	4.499e-05	0	6.06e-05	5.82e-05	9	154602	rs140314143	3.97e-05	4.036e-05	4.087e-05	3.853e-05	0.0003	3.115e-05	2.849e-05	6.099e-05	3.273e-05	0	0	3.828e-05	0	0	0.0003	4.14e-05	1.657e-05	9.276e-05	6.583e-05	6.569e-05	7.719e-05	5.393e-05	0.0001	3.523e-05	2.621e-05	6.808e-05	5.091e-05	2.42e-05	0	0	0	0	0	0	0.0001	0	0	0.31	0.14017	T	0.183	0.29153	T	0.048	0.22112	B	0.014	0.16862	B	0.032821	0.24977	N	0.340710	0.999999	0.81001	D	0.55	0.14455	N	-0.89	0.74793	T	-0.93	0.24898	N	0.222	0.24883	-0.7750	0.56581	T	0.236	0.60355	T	10	0.1258721	0.23925	T	0.018738	0.40901	T	0.149	0.39377	.	.	0.719026857602	0.71655	0.4059859602100281	0.40514	0.820805729779	0.67158	0.485069841146	0.36756	T	0.199482	0.55677	T	-0.201168	0.20637	T	-0.345213	0.39752	T	0.047666784375906	0.05083	T	0.725927	0.34027	T	0.12882692	0.30107	0.113629326	0.27425	0.12882692	0.30107	0.113629326	0.27424	-6.662	0.51523	T	.	.	0.076	0.06024	B	.	.	3.455452	0.48139	22.6	0.85795143741821667	0.16117	0.84010	0.43097	D	AEFBHCI	.	.	.	-0.094302453455072	0.37642	2.192925	0.0668441784831506	0.42892	2.602553	0.00827074196206687	0.11643	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.82	3.85	0.43556	3.080000	0.49810	6.750000	0.56508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2276:0.0:0.7724:0.0	8.542	0.32563	478	0.77585	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	976.33	34	chr20	32310937	.	G	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.941;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.879;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr20	32316763	32316763	C	G	exonic	KIF3B	.	nonsynonymous SNV	KIF3B:NM_004798:exon5:c.C1637G:p.S546C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0750618404262	.	.	2.486e-05	0	0	0	0	4.521e-05	0	0	1.94e-05	3	154602	rs780855149	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.993e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.004	0.65419	D	0.026	0.55759	D	0.747	0.43174	P	0.497	0.47562	P	0.000005	0.62929	D	0.109676	1	0.81001	D	2.395	0.69210	M	-0.93	0.75215	T	-2.58	0.55662	D	0.414	0.45426	0.154	0.85131	D	0.538	0.82936	D	10	0.41364676	0.56394	T	0.075062	0.72196	D	0.199	0.48268	0.297	0.26202	0.848440554818	0.84698	0.19223422172020987	0.19141	1.24533256083	0.81657	0.785591959953	0.79773	T	0.533	0.83888	D	0.00573117	0.52443	T	-0.121887	0.61647	T	0.882779777050018	0.53291	D	0.864413	0.56163	D	0.38556585	0.59716	0.24931666	0.50500	0.38556585	0.59716	0.24931666	0.50499	-8.047	0.61390	D	.	.	0.089	0.11941	B	.	.	5.074203	0.84651	28.4	0.99153989817015098	0.53903	0.98856	0.87762	D	AEFDBI	0.897210	0.83913	D	0.649402161690149	0.76329	6.466585	0.642716830236985	0.78071	6.802731	0.999999999999295	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.608884	0.39905	0	0.733575	0.97253	0	.	.	4.57	4.57	0.55860	7.905000	0.86479	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.907	0.88839	485	0.77085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	34	chr20	32316763	.	C	G	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=720;ExcessHet=0;FS=3.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.773;SOR=0.354	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	18	0	1	0
chr20	32434822	32434822	G	A	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.G1927A:p.G643R,ASXL1:NM_015338:exon12:c.G2110A:p.G704R	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1503	19	0	0	19	0.00628099	.	.	.	344999	not_provided|ASXL1-related_disorder|Bohring-Opitz_syndrome	MedGen:C3661900|.|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.126	0.0130423094044	0.0002	0.000399361	0.0008	0	0.0002	0	0	0.0005	0	0.0035	0.0006856	106	154602	rs151317625	0.0005	0.0005	0.0004	0.0006	0.0042	0.0004	0.0004	0.0029	0.0025	8.961e-05	0.0003	0.0011	5.038e-05	1.875e-05	0.0042	0.0003	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	7.218e-05	0	0.0003	0.0006	0	0	0.0068	0.0002	0.0009	0.0037	0.002	0.72154	D	0.015	0.61642	D	0.986	0.61523	D	0.64	0.52082	P	0.000100	0.51296	D	0.085622	0.899782	0.36144	D	2.47	0.71715	M	1.61	0.28391	T	-2.76	0.58569	D	0.252	0.46649	-0.8123	0.54411	T	0.136	0.45106	T	10	0.007665783	0.00174	T	0.013042	0.32127	T	0.126	0.34673	0.246	0.18139	0.629718971361	0.62669	0.45911666305360627	0.45829	0.310196105439	0.33336	0.349647283554	0.17870	T	0.383656	0.74546	T	-0.36963	0.03612	T	-0.306775	0.44004	T	0.0797073096036911	0.09948	T	0.810819	0.46223	T	0.18284968	0.39524	0.26537284	0.52369	0.22114433	0.44685	0.32455853	0.58378	-4.186	0.26548	T	.	.	0.111	0.21950	B	.;.;.;.;.	.;.;.;.;.	4.280674	0.65203	24.8	0.99860425141712195	0.93911	0.87754	0.47401	D	AEFDBCI	0.337956	0.43559	N	0.472652852221509	0.65499	4.830212	0.425473310125815	0.63158	4.54393	0.999999752869149	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.22	5.22	0.72285	4.533000	0.60328	8.738000	0.78198	0.676000	0.76740	0.823000	0.30032	1.000000	0.68203	0.624000	0.32000	0.0:0.0:1.0:0.0	17.53	0.87708	518	0.74548	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	2691.33	37	chr20	32434822	.	G	A	2691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.741;DP=845;ExcessHet=0;FS=3.144;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.272;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr20	32436404	32436404	C	T	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.C3509T:p.S1170F,ASXL1:NM_015338:exon12:c.C3692T:p.S1231F	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1511	11	0	0	11	0.00362677	.	.	.	137325	not_specified|not_provided|Bohring-Opitz_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0231629	0.0155	0.0012	0.1266	0.0209	0	0.0005	0.0055	0.0107	0.0149481	2311	154602	rs74638057	0.0055	0.0055	0.0060	0.0051	0.1177	0.0054	0.0054	0.1150	0.1139	0.0012	0.1177	0.0029	0.0345	0.0002	0.0016	0.0002	0.0051	0.0098	0.0092	0.0092	0.0080	0.0104	0.0729	0.0088	0.0086	0.0694	0.0679	0.0018	0	0.0729	0.0029	0.0201	0	0	0.0002	0.0099	0.0126	0.073	0.34982	T	0.075	0.42794	T	0.03	0.20002	B	0.011	0.15521	B	0.196146	0.16719	N	0.617595	0.552282	0.31324	N	1.875	0.49914	L	2.32	0.16640	T	-2.53	0.54864	D	0.09	0.12770	-1.0936	0.04959	T	0.002	0.00615	T	10	0.001635164	0.00019	T	.	.	.	0.024	0.04979	.	.	.	.	0.19365364355544645	0.19283	0.0630879135853	0.07022	0.288465559483	0.08699	T	0.175978	0.52575	T	-0.590236	0.00167	T	-0.523893	0.19901	T	0.00898165453397651	0.00112	T	0.770023	0.39993	T	0.09525676	0.22413	0.13339451	0.31987	0.121581204	0.28586	0.11260498	0.27170	-4.85	0.35168	T	.	.	0.163	0.43949	B	.;.;.;.;.	.;.;.;.;.	2.309630	0.29567	18.16	0.97591113539455032	0.34791	0.87071	0.46502	D	AEFDBCI	0.200037	0.32679	N	-0.249411859448061	0.31127	1.742295	-0.0964125032355625	0.35539	2.05723	0.999233736903818	0.38840	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	4.56	3.62	0.40616	2.232000	0.42663	4.749000	0.44649	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.839000	0.39591	0.0:0.8316:0.0:0.1684	9.277	0.36870	516	0.74704	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.011696	0.050000	0.000000	0.003049	0.003788	0.02632	963.33	37	chr20	32436404	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.278;DP=861;ExcessHet=0;FS=5.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.928;SOR=1.072	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	18	0	1	0
chr20	32447809	32447809	C	T	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon9:c.G1175A:p.R392Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.628e-05	0	0	0	0	6.271e-05	0	0	3.23e-05	5	154602	rs745580736	2.632e-05	2.531e-05	2.802e-05	2.456e-05	0.0002	1.942e-05	1.696e-05	8.295e-05	5.946e-05	3.113e-05	0.0002	0	0	0	0	2.404e-05	3.463e-05	1.283e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	915.33	44	chr20	32447809	.	C	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=748;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.646;SOR=0.448	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	18	0	1	0
chr20	32456215	32456215	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C290T:p.P97L,NOL4L:NM_080616:exon3:c.C290T:p.P97L,NOL4L:NM_001256798:exon6:c.C1022T:p.P341L	.	.	.	.	.	.	.	.	.	.	.	2334155	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00680367563353	0.0005	0.000199681	0.0004	0	8.688e-05	0	0	0.0004	0	0.0010	0.0003299	51	154602	rs146253793	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	9.012e-05	2.27e-05	0.0004	0	1.887e-05	0	0.0007	0.0004	0.0008	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0005	0.0004	9.618e-05	0	0	0	0	0	0	0.0006	0	0.0010	0.002	0.72154	D	0.088	0.40586	T	0.33	0.33247	B	0.067	0.27542	B	0.020277	0.27075	N	0.375170	0.999994	0.08975	N	.	.	.	.	.	.	-1.34	0.33401	N	0.305	0.35088	-0.9749	0.36148	T	0.093	0.35417	T	9	0.032135725	0.01359	T	0.006804	0.17982	T	0.136	0.36778	.	.	0.0675242888579	0.06100	0.28884138861272607	0.28797	0.317912542629	0.34023	.	.	.	0.07791	0.35766	T	-0.414518	0.01855	T	-0.438362	0.28993	T	0.0730185593408604	0.09069	T	0.863414	0.55914	D	0.05345273	0.10118	0.07798383	0.17425	0.05345273	0.10117	0.07798383	0.17425	-3.958	0.23173	T	.	.	0.074	0.10400	B	.;.;.	.;.;.	3.287005	0.45060	22.1	0.99008571119063316	0.50314	0.97069	0.72509	D	AEFDBI	0.304395	0.41210	N	-0.245838694213241	0.31269	1.751707	-0.261211045888656	0.29387	1.646038	0.999994501046813	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	3.45	0.38602	4.124000	0.57676	6.204000	0.54929	0.676000	0.76740	0.910000	0.31679	1.000000	0.68203	0.137000	0.19835	0.0:0.0:0.7793:0.2207	9.960	0.40863	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2701.33	36	chr20	32456215	.	G	A	2701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.488;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	18	0	1	0
chr20	32474718	32474718	C	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001256798:exon5:c.G724T:p.D242Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0350008667713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.998522	0.81001	D	.	.	.	.	.	.	-2.74	0.58248	D	0.572	0.59478	-0.1389	0.79192	T	0.410	0.75901	T	5	0.30635566	0.48146	T	0.035001	0.56052	D	0.277	0.59375	0.184	0.09259	0.256237801699	0.25221	0.6483650077683782	0.64772	.	.	.	.	.	0.084736	0.37344	T	0.0953478	0.63786	D	-0.100816	0.63336	T	0.96620762348175	0.67509	D	0.954805	0.82790	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.70317	P	.;.	.;.	5.313038	0.89189	29.9	0.99473159547588397	0.66472	0.93890	0.59488	D	ALL	0.792389	0.72070	D	0.43919058643481	0.63593	4.595985	0.506759261101608	0.68445	5.22085	0.999999999999988	0.74766	0.733237	0.96898	0	0.724815	0.89359	0	0.658105	0.52812	0	0.621717	0.48901	0	.	.	5.2	5.2	0.71720	6.756000	0.74715	7.684000	0.65448	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.727	0.88276	580	0.69689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	494.33	37	chr20	32474718	.	C	A	494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=658;ExcessHet=0;FS=7.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.619;SOR=0.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	18	0	1	0
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.026515	0.02632	684.33	41	chr20	32839770	.	G	A	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.225;DP=888;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.631;SOR=0.873	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	18	0	1	0
chr20	33018292	33018292	G	A	exonic	BPIFB2	.	nonsynonymous SNV	BPIFB2:NM_025227:exon8:c.G611A:p.R204H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00427615044387	7.7e-05	0.000199681	0.0003	9.632e-05	8.642e-05	0	0.0003	0.0004	0.0011	0	0.0002652	41	154602	rs199759889	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	4.472e-05	0.0008	0	0.0002	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.218e-05	0	0	0.0014	0	0	0	0.0004	0.0005	0	0.053	0.38863	T	0.154	0.32040	T	0.02	0.18235	B	0.005	0.11217	B	0.001545	0.38671	N	0.118738	0.961309	0.26112	N	1.975	0.53506	M	3.58	0.04594	T	-1.32	0.32991	N	0.247	0.27910	-1.0342	0.19109	T	0.017	0.06759	T	10	0.07183874	0.10643	T	0.004276	0.10341	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.321888993178463	0.32101	0.220656407974	0.24609	0.330320000648	0.14983	T	0.022697	0.17455	T	-0.561757	0.00248	T	-0.68612	0.06616	T	0.0267092021481087	0.01504	T	0.708429	0.31914	T	0.038424276	0.05115	0.04054111	0.04406	0.038424276	0.05114	0.04054111	0.04405	-2.811	0.08285	T	.	.	0.098	0.16451	B	.	.	2.102779	0.26757	17.23	0.96687777309965606	0.30726	0.60304	0.31157	D	AEFDBCI	0.110030	0.21833	N	-0.531552502027561	0.21066	1.11526	-0.476909259844568	0.22792	1.239674	0.091384474388462	0.16133	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	3.23	0.36150	1.543000	0.35754	1.445000	0.26559	-0.119000	0.14319	0.989000	0.36753	0.864000	0.27519	0.209000	0.22154	0.188:0.0:0.812:0.0	7.739	0.27996	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	3556.81	39	chr20	33018292	.	G	A	3556.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.23;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	18	1	0	0
chr20	33034813	33034813	C	G	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon4:c.C353G:p.T118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00616498388982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	1.874e-05	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.647	0.04897	T	0.221	0.25827	T	0.022	0.18677	B	0.019	0.18783	B	0.001799	0.37998	N	0.116514	0.849057	0.28523	N	1.495	0.37439	L	3.48	0.05130	T	-0.86	0.23372	N	0.271	0.30687	-1.0257	0.21853	T	0.018	0.07470	T	10	0.15988854	0.30030	T	0.006165	0.16141	T	0.104	0.29647	0.508	0.60386	0.110078149338	0.10416	0.10043846147469106	0.09974	0.0512959022533	0.05647	0.532705843449	0.43415	T	3.58E-4	0.00102	T	-0.176654	0.24235	T	-0.491528	0.23232	T	0.393372893333435	0.28692	T	0.579642	0.20943	T	0.103228144	0.24398	0.07473906	0.16380	0.103228144	0.24398	0.07473906	0.16380	-3.323	0.14035	T	.	.	0.143	0.31406	B	.	.	2.269370	0.29007	17.98	0.96934289093277815	0.31672	0.75547	0.36995	D	AEFDBI	0.370792	0.45704	N	-0.220031196612246	0.32311	1.820944	-0.0790437926186622	0.36258	2.107779	0.757345702126543	0.23455	0.500041	0.20204	0	0.563428	0.19063	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.21	4.21	0.48984	1.601000	0.36383	7.577000	0.60860	0.580000	0.29708	0.998000	0.41325	1.000000	0.68203	0.753000	0.35893	0.0:1.0:0.0:0.0	12.411	0.54800	102	0.95784	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	37	chr20	33034813	.	C	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.793;DP=743;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.199;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	18	0	1	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.07895	4241.79	76	chr20	33083769	.	T	G	4241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.218;DP=1520;ExcessHet=0.3672;FS=5.007;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.021;SOR=0.486	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	16	0	3	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P,BPIFA3:NM_178466:exon1:c.G94C:p.A32P	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3360.83	33	chr20	33217630	.	G	C	3360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.677;DP=875;ExcessHet=0.119;FS=2.627;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.249;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	17	0	2	0
chr20	33291016	33291016	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon5:c.G425A:p.R142H	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00736572939817	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0.0034	0.0002	0.000194	30	154602	rs61737874	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0002	0.0003	3.826e-05	2.519e-05	0	0.0026	0.0002	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0	0	0.0034	0.0002	0.0005	0.0006	0.342	0.18889	T	0.478	0.11968	T	0.004	0.12183	B	0.005	0.11217	B	0.568857	0.05468	N	1.270200	1	0.08975	N	0.74	0.18910	N	3.38	0.05778	T	-0.76	0.27259	N	0.099	0.08088	-0.9267	0.44616	T	0.011	0.04181	T	10	0.01861149	0.00406	T	0.007366	0.19550	T	0.063	0.18251	0.494	0.58206	0.0138822411134	0.00435	0.19700788196174335	0.19617	0.209817070795	0.23452	0.212290734053	0.00912	T	0.003896	0.03302	T	-0.483775	0.00703	T	-0.600621	0.12759	T	0.0127294893884048	0.00215	T	0.466053	0.13673	T	0.02291079	0.00988	0.027614659	0.00927	0.02291079	0.00988	0.027614659	0.00927	-4.998	0.36819	T	.	.	0.068	0.09917	B	.;.	.;.	0.040624	0.04569	1.252	0.90362818841768	0.19626	0.00894	0.03512	N	AEFDGBI	0.040279	0.05968	N	-1.76267070329961	0.00643	0.02773723	-1.80692663087135	0.00737	0.03286027	0.639634266966967	0.22041	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.37	-5.93	0.02067	-0.513000	0.06389	-0.140000	0.11527	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6217:0.1123:0.2661:0.0	8.505	0.32342	59	0.97452	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2059.83	35	chr20	33291016	.	G	A	2059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.406;DP=760;ExcessHet=0.119;FS=3.485;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.21;SOR=0.47	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1171,0,1176	17	0	2	0
chr20	33297534	33297534	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon7:c.G607A:p.V203M	.	419	1101	1	1	0	3	0.00136054	.	.	.	2335686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00839936862669	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0.0033	6.056e-05	0.0001682	26	154602	rs45473499	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0001	0.0003	3.826e-05	0	0	0.0028	0.0002	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0006	0	0.0004	0	0.0034	0.0002	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000740	0.42129	N	0.105378	0.997803	0.22499	N	2.57	0.75187	M	3.27	0.06602	T	-1.03	0.27052	N	0.303	0.34228	-1.0923	0.05159	T	0.048	0.20553	T	10	0.129749	0.24689	T	0.008399	0.22231	T	0.123	0.34020	.	.	0.246215685461	0.24236	0.19985060906393515	0.19902	0.411433108143	0.41895	0.430411934853	0.29265	T	0.057135	0.30481	T	-0.404768	0.02154	T	-0.497232	0.22634	T	0.101768522818546	0.12551	T	0.70483	0.31518	T	0.038501438	0.05140	0.06926973	0.14574	0.038501438	0.05140	0.06926973	0.14574	-4.238	0.27298	T	.	.	0.154	0.33981	B	.	.	3.246139	0.44328	21.9	0.9979344804690754	0.87928	0.13129	0.17679	N	AEFBI	0.068951	0.13625	N	-0.0407135230320952	0.40019	2.369496	-0.236006413773942	0.30257	1.702009	0.194515039969476	0.18042	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.92	1.89	0.24700	0.484000	0.22017	2.833000	0.35033	0.676000	0.76740	0.293000	0.25261	0.999000	0.35428	0.057000	0.15750	0.1832:0.0:0.6471:0.1697	4.893	0.13093	54	0.97570	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2726.83	34	chr20	33297534	.	G	A	2726.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.12;DP=795;ExcessHet=0.119;FS=1.719;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.14;SOR=0.829	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1621,0,1188	17	0	2	0
chr20	33408526	33408526	C	T	exonic	SNTA1	.	nonsynonymous SNV	SNTA1:NM_003098:exon8:c.G1499A:p.R500H	Long QT syndrome 12, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1827046	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.775	0.269501600009	.	.	5.786e-05	9.641e-05	0	0	0	3.005e-05	0	0.0002	4.53e-05	7	154602	rs761509610	2.668e-05	2.668e-05	1.361e-05	3.988e-05	0.0002	1.998e-05	1.754e-05	0.0001	0.0001	0	2.236e-05	0	0	1.872e-05	0	1.439e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.007	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	-2.04	0.85703	D	-4.26	0.76174	D	0.607	0.62442	0.700	0.93174	D	0.760	0.91830	D	10	0.7168958	0.73405	D	0.269502	0.89824	D	0.775	0.92460	0.426	0.47185	0.945179591899	0.94460	0.6422980270541887	0.64164	1.07263255866	0.76850	0.834089279175	0.87190	D	0.862722	0.96967	D	0.0741471	0.61348	D	0.164923	0.81106	D	0.921564102172852	0.58127	D	0.960204	0.84976	D	0.43048367	0.62784	0.27006808	0.52895	0.43048367	0.62784	0.27006808	0.52894	-12.688	0.88037	D	0.6082049661422521	0.67562	0.565	0.67411	P	.	.	4.639109	0.73833	26.1	0.99945760401925876	0.99901	0.99659	0.98423	D	AEFDGBI	0.933861	0.92638	D	0.702541441129523	0.79801	7.154669	0.612167907338803	0.75822	6.379113	0.999999999992768	0.74766	0.706298	0.61202	0	0.659037	0.61890	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	5.904000	0.69623	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:1.0:0.0:0.0	16.866	0.85894	63	0.97314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1159.33	37	chr20	33408526	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=710;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-1.142;SOR=0.97	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1173,0,817	18	0	1	0
chr20	34077063	34077063	G	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon7:c.G646A:p.G216S,RALY:NM_016732:exon8:c.G694A:p.G232S	.	406	1070	40	6	0	52	0.0237226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	0.0085	0	0.0014	0	0	0.0010	0.0064	0.0464	0.0054527	843	154602	rs779745009	0.0033	0.0033	0.0021	0.0047	0.0438	0.0033	0.0032	0.0427	0.0422	0.0002	0.0009	0.0011	0.0002	0.0001	0.0138	0.0006	0.0041	0.0438	0.0022	0.0022	0.0015	0.0028	0.0481	0.0020	0.0019	0.0430	0.0410	0.0003	0	0.0010	0.0017	0.0004	0	0.0068	0.0008	0.0019	0.0481	0.21	0.91255	T	0.27	0.51737	T	0.005	0.17332	B	0.005	0.11217	B	0.571835	0.11231	N	0.722516	0.999999	0.08975	N	1.7	0.43825	L	-2.15	0.86481	D	0.35	0.11913	N	0.245	0.27673	-0.7941	0.55491	T	0.350	0.71383	T	10	0.0029756129	0.00048	T	.	.	.	0.148	0.39182	.	.	0.525901189516	0.52236	0.3463686870031979	0.34550	0.541908027048	0.51315	0.645334661007	0.59323	T	0.077549	0.35681	T	-0.0102055	0.50238	T	-0.252436	0.49577	T	0.0158187146512762	0.00370	T	0.452355	0.19809	T	0.03201276	0.03147	0.038387362	0.03697	0.03201276	0.03147	0.038387362	0.03697	-6.098	0.47207	T	.	.	0.076	0.10449	B	.;.;.;.	.;.;.;.	-0.071250	0.03814	0.812	0.67360986287951718	0.08332	0.12095	0.17056	N	AEFDBCI	0.052155	0.09281	N	-1.13291267909635	0.06065	0.2782377	-1.13330919367617	0.07071	0.3426133	0.953134877470914	0.28056	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.37	2.42	0.28720	-0.028000	0.12299	.	.	-1.756000	0.00682	0.001000	0.13787	.	.	0.000000	0.00833	0.1348:0.0:0.8652:0.0	6.48	0.21256	135	0.94622	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011640	0.005051	0.005435	0.005848	0.000000	0.000000	0.012422	0.045455	0.02632	1148.33	105	chr20	34077063	.	G	A	1148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.912;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.18;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,101,1599:.	18	0	1	0
chr20	34077095	34077095	-	GGCAGTGGTGGTGGC	exonic	RALY	.	nonframeshift insertion	RALY:NM_007367:exon7:c.678_679insGGCAGTGGTGGTGGC:p.G232_G233insSGGGG,RALY:NM_016732:exon8:c.726_727insGGCAGTGGTGGTGGC:p.G248_G249insSGGGG	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.887e-07	6.849e-07	1.369e-06	0	9.032e-07	0	0	.	.	0	0	0	0	0	0	9.032e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1680.29	105	chr20	34077095	.	T	TGGCAGTGGTGGTGGC	1680.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-1.226;SOR=0.616	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,101,1599	18	0	1	0
chr20	34105446	34105446	A	G	exonic	EIF2S2	.	nonsynonymous SNV	EIF2S2:NM_001316363:exon2:c.T115C:p.S39P,EIF2S2:NM_001316364:exon2:c.T115C:p.S39P,EIF2S2:NM_003908:exon2:c.T115C:p.S39P	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00384290618151	0.0005	0.000998403	0.0009	0	8.651e-05	0	0	0.0003	0.0022	0.0053	0.0007374	114	154602	rs202098007	0.0004	0.0004	0.0003	0.0005	0.0051	0.0004	0.0004	0.0047	0.0046	5.975e-05	0	0	0	0	0.0031	7.374e-05	0.0007	0.0051	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0060	0.299	0.14546	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.01387	B	0.005289	0.32928	N	0.299259	0.931606	0.27042	N	1.56	0.39490	L	0.89	0.45636	T	-0.15	0.09297	N	0.153	0.15749	-1.0535	0.13440	T	0.028	0.11971	T	10	0.005823344	0.00130	T	0.003843	0.08992	T	0.056	0.15993	.	.	0.318133320967	0.31420	0.04148595741450811	0.04093	0.903404305947	0.70735	0.531164109707	0.43198	T	0.065608	0.32732	T	-0.552839	0.00280	T	-0.565249	0.15888	T	0.0436916384449157	0.04364	T	0.689731	0.29897	T	0.17726885	0.38684	0.17549285	0.40019	0.17726885	0.38684	0.17549285	0.40019	-3.811	0.20969	T	.	.	0.071	0.03849	B	.	.	3.308750	0.45458	22.1	0.98887998199525562	0.47948	0.91818	0.54329	D	AEFBI	0.406841	0.47917	N	-0.436782436614691	0.24191	1.304431	-0.119855395727795	0.34591	1.991429	0.999998982778834	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	3.257000	0.51201	7.924000	0.74674	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9262:0.0:0.0738:0.0	10.321	0.42946	144	0.94257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.018939	0.02632	1633.33	35	chr20	34105446	.	A	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.925;DP=793;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-1.552;QD=9.72;ReadPosRankSum=-1.232;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1304	18	0	1	0
chr20	34260462	34260462	C	T	exonic	ASIP	.	nonsynonymous SNV	ASIP:NM_001385218:exon2:c.C88T:p.L30F,ASIP:NM_001672:exon2:c.C88T:p.L30F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0137117793889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.714	0.05452	T	0.379	0.34321	B	0.083	0.29179	B	0.934854	0.08394	N	0.968144	1	0.08975	N	0.805	0.20218	L	1.4	0.33630	T	-1.58	0.38151	N	0.132	0.18649	-1.0335	0.19332	T	0.048	0.20592	T	10	0.119167954	0.22545	T	0.013712	0.33318	T	0.068	0.19811	0.291	0.25241	0.29132392195	0.28731	0.08992441437229987	0.08925	0.297639375691	0.32147	0.288299769163	0.08675	T	0.402832	0.75974	T	-0.258331	0.13097	T	-0.608851	0.12078	T	0.164200022816658	0.18177	T	0.919808	0.70989	D	0.065701455	0.14066	0.068286866	0.14240	0.065701455	0.14066	0.068286866	0.14240	-4.587	0.32008	T	.	.	0.105	0.19800	B	.;.	.;.	1.649900	0.21048	15.03	0.99191528906373205	0.54994	0.04643	0.10312	N	AEFGI	0.036364	0.04834	N	-0.663750718844899	0.17061	0.874721	-0.64276911563716	0.18400	0.9827279	0.821651720226857	0.24535	0.679555	0.55442	0	0.588066	0.40923	0	0.600882	0.32295	2	0.564101	0.26826	0	.	.	5.09	1.94	0.25058	0.610000	0.23950	1.103000	0.24087	0.569000	0.28856	0.462000	0.26659	0.002000	0.18203	0.589000	0.31115	0.0:0.6746:0.0:0.3254	5.939	0.18416	104	0.95701	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	187.33	34	chr20	34260462	.	C	T	187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.456;DP=782;ExcessHet=0;FS=120.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.922;SOR=7.167	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	18	0	1	0
chr20	34292436	34292436	C	T	exonic	AHCY	.	nonsynonymous SNV	AHCY:NM_000687:exon4:c.G367A:p.G123R,AHCY:NM_001161766:exon4:c.G283A:p.G95R,AHCY:NM_001322084:exon4:c.G283A:p.G95R,AHCY:NM_001322085:exon4:c.G283A:p.G95R,AHCY:NM_001322086:exon4:c.G373A:p.G125R,AHCY:NM_001362750:exon4:c.G367A:p.G123R	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	533553	Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase|not_provided|Inborn_genetic_diseases|AHCY-related_disorder	MONDO:MONDO:0013404,MedGen:C3151058,OMIM:613752,Orphanet:88618|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.632	0.0765513061894	0.0046	0.00319489	0.0041	0.0010	0.0034	0	0.0008	0.0062	0.0022	0.0012	0.0042884	663	154602	rs41301825	0.0054	0.0054	0.0054	0.0053	0.0064	0.0053	0.0052	0.0063	0.0062	0.0008	0.0033	0.0046	0	0.0011	0.0021	0.0064	0.0044	0.0012	0.0041	0.0041	0.0046	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0010	0.0033	0.0022	0.0055	0	0.0006	0.0068	0.0073	0.0061	0.0014	0.018	0.52492	D	0.008	0.67890	D	0.997	0.70673	D	0.828	0.59497	P	0.000001	0.62929	D	0.098369	0.999992	0.58761	D	2.98	0.85499	M	-1.23	0.78860	T	-3.45	0.68412	D	0.729	0.73285	-0.1291	0.79422	T	0.357	0.71967	T	10	0.0127850175	0.00273	T	0.076551	0.72558	D	0.632	0.85872	0.558	0.67684	0.74125211765	0.73892	0.9209432453530402	0.92070	1.37490233387	0.84640	0.857202470303	0.90696	D	0.84254	0.96341	D	-0.0891308	0.38219	T	0.107155	0.77384	D	0.0259668625663982	0.01401	T	0.905309	0.66640	D	0.5441535	0.69630	0.48318335	0.70078	0.7354957	0.80036	0.46641433	0.69040	-4.555	0.49649	T	0.3078404220851	0.40559	0.284	0.51643	B	.;.	.;.	4.968473	0.82200	27.7	0.99808281644864016	0.89264	0.98520	0.83657	D	AEFGBI	0.812836	0.73547	D	0.537846156574199	0.69343	5.343761	0.571417694934979	0.72899	5.883201	0.999999999270755	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	6.109000	0.71203	3.371000	0.37932	0.596000	0.33519	1.000000	0.71638	0.985000	0.30750	0.917000	0.45243	0.0:1.0:0.0:0.0	18.756	0.91795	107	0.95615	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.009202	0.003788	0.02632	1460.33	35	chr20	34292436	.	C	T	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=788;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.124;SOR=0.756	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:93,47:140:95:95,0,1565	2	0	17	0
chr20	34977991	34977991	C	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon5:c.C112T:p.P38S	.	420	1094	8	0	0	8	0.00364299	.	.	.	2117156	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0036606152999	.	.	0.0002	0	0	0	0	0.0001	0.0011	0.0009	0.0001617	25	154602	rs771694952	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0	0	0	0	0.0029	5.935e-05	0.0003	0.0014	0.0001	0.0001	0.0001	0.0001	0.0023	7.087e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0	0.0034	5.879e-05	0.0005	0.0023	0.706	0.04094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.04	0.85703	D	-0.16	0.09460	N	0.162	0.17002	-0.8338	0.53055	T	0.302	0.67344	T	6	0.01699248	0.00360	T	0.003661	0.08433	T	0.106	0.30130	0.404	0.43573	0.419461527279	0.41563	0.3849137986949631	0.38406	0.157787249233	0.17821	0.28744417429	0.08551	T	0.607794	0.87525	D	-0.471076	0.00837	T	-0.494996	0.22868	T	0.0240126192102929	0.01147	T	0.417958	0.11033	T	0.1313266	0.30616	0.25857493	0.51592	0.08065491	0.18492	0.22262819	0.47113	-3.576	0.17510	T	.	.	0.075	0.07130	B	.;.	.;.	1.616304	0.20649	14.85	0.93099959838174873	0.22727	0.22895	0.21898	N	AEFDBI	0.169856	0.29672	N	-0.623561691055816	0.18237	0.9452615	-0.7751148618551	0.15106	0.7928329	0.992434443021422	0.32839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.98	-1.57	0.08055	1.601000	0.36383	0.822000	0.21862	0.599000	0.40250	0.077000	0.22263	0.003000	0.18671	0.280000	0.24017	0.2786:0.396:0.0:0.3254	4.702	0.12213	625	0.65529	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.010101	0.000000	0.000000	0.000000	0.017241	0.000000	0.003788	0.02632	1838.33	33	chr20	34977991	.	C	T	1838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=789;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.938;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr20	34978049	34978049	G	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon5:c.G170T:p.R57L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.127182679079	.	.	3.315e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs762254041	6.157e-06	6.156e-06	1.361e-06	1.1e-05	6.956e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.799e-06	0	6.956e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.003476	0.34901	N	0.000000	0.999928	0.51308	D	.	.	.	-2.29	0.87591	D	-5.2	0.83695	D	0.803	0.79889	0.438	0.89658	D	0.608	0.86085	D	10	0.8602622	0.85242	D	0.127183	0.80895	D	0.712	0.89741	.	.	0.901316477311	0.90033	0.7712525689520515	0.77075	0.727047607057	0.62546	0.573724508286	0.49204	T	0.500217	0.82090	D	0.15107	0.69367	D	0.181879	0.82105	D	0.971380829811096	0.69297	D	0.729627	0.34527	T	0.4197868	0.62077	0.36810663	0.62107	0.4197868	0.62078	0.36810663	0.62106	-3.237	0.12938	T	.	.	0.632	0.77759	P	.;.	.;.	5.176375	0.86775	29.0	0.99869722144686734	0.94726	0.99093	0.91122	D	AEFDBIJ	0.928829	0.91366	D	0.597308909685866	0.73006	5.896128	0.64455632643423	0.78208	6.829753	0.999999999939205	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.84	4.84	0.62125	8.890000	0.92121	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.124	0.89511	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1809.33	33	chr20	34978049	.	G	T	1809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.961;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	18	0	1	0
chr20	34996718	34996718	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon30:c.G3352A:p.A1118T	.	399	1113	9	1	0	11	0.0049173	.	.	.	1364937	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.0261191235021	.	.	0.0003	0	8.718e-05	0	0	0.0002	0.0012	0.0010	0.000207	32	154602	rs774221345	0.0002	0.0002	0.0002	0.0003	0.0075	0.0002	0.0002	0.0057	0.0051	5.974e-05	0.0001	3.828e-05	0	0	0.0075	0.0001	0.0006	0.0015	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0003	0	0	0	0.0034	0.0001	0.0014	0.0023	0.025	0.47320	D	0.013	0.63109	D	.	.	.	.	.	.	0.438479	0.12657	N	0.647400	1	0.08975	N	.	.	.	-1.66	0.82715	D	-0.12	0.08809	N	0.163	0.17140	-0.6899	0.60913	T	0.310	0.68085	T	10	0.018741488	0.00411	T	0.026119	0.49051	D	0.143	0.38195	.	.	0.463586170655	0.45986	0.2873577937568905	0.28648	0.144541060222	0.16329	0.282088398933	0.07785	T	.	.	.	-0.458851	0.00999	T	-0.472417	0.25255	T	0.0211169056232798	0.00813	T	0.817118	0.47377	T	0.019424751	0.00472	0.055114843	0.09607	0.024583057	0.01305	0.0610174	0.11713	-5.642	0.43174	T	.	.	0.069	0.03231	B	.;.	.;.	1.347272	0.17547	13.23	0.98924024160424862	0.48620	0.14860	0.18623	N	AEFDBCI	0.082031	0.16605	N	-0.688883305002765	0.16338	0.8314626	-0.768695754995424	0.15263	0.801897	0.967617757729535	0.28990	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.54	2.09	0.26154	0.179000	0.16653	0.963000	0.23005	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.140000	0.19946	0.2757:0.21:0.374:0.1403	1.085	0.01547	616	0.66398	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.000000	0.001359	0.026316	0.000000	0.025862	0.000000	0.003817	0.02632	1403.33	38	chr20	34996718	.	G	A	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=831;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.149;SOR=0.771	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	0
chr20	35000840	35000840	G	C	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon40:c.G5377C:p.A1793P	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.0577459419859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428528880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.087	0.40747	T	.	.	.	.	.	.	0.002674	0.36137	N	0.000000	0.998183	0.44603	D	.	.	.	-1.69	0.82985	D	-2.69	0.57435	D	0.747	0.74644	0.608	0.92000	D	0.723	0.90525	D	10	0.82520413	0.81704	D	0.057746	0.67073	D	0.664	0.87479	.	.	0.748558836882	0.74628	0.9147835442638091	0.91453	0.702002171826	0.61195	0.63285022974	0.57549	T	.	.	.	0.21239	0.75055	D	0.067307	0.74729	D	0.987646460533142	0.78100	D	0.868713	0.57175	D	0.33315483	0.55727	0.5530256	0.74153	0.33315483	0.55727	0.5530256	0.74153	-14.553	0.94715	D	.	.	0.795	0.78496	P	.;.	.;.	5.165101	0.86553	28.9	0.99738311220978948	0.83337	0.95049	0.63252	D	AEFDGBCI	0.871405	0.79278	D	0.766061678986568	0.83945	8.152639	0.68120528230541	0.80953	7.414998	0.999912839909148	0.45857	0.517182	0.21443	0	0.572659	0.20510	0	0.478664	0.07449	1	0.508809	0.08732	0	.	.	4.52	4.52	0.54797	3.451000	0.52727	11.887000	0.98989	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0852:0.0:0.9148:0.0	11.057	0.47140	613	0.66686	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	545.33	36	chr20	35000840	.	G	C	545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.392;DP=736;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.061;SOR=0.89	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1530	18	0	1	0
chr20	35147228	35147228	G	A	exonic	EDEM2	.	nonsynonymous SNV	EDEM2:NM_001145025:exon1:c.C31T:p.L11F,EDEM2:NM_018217:exon1:c.C31T:p.L11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.023927807809	.	.	1.008e-05	0	0	0	0	1.797e-05	0	0	6.5e-06	1	154602	rs759457381	2.075e-06	2.736e-06	2.747e-06	1.394e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.069e-07	0	1.18e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.107	0.91255	T	0.087	0.40747	T	0.005	0.14655	B	0.003	0.12992	B	0.004828	0.33350	N	0.299613	0.906498	0.81001	D	1.7	0.43825	L	0.26	0.65747	T	-0.67	0.19297	N	0.495	0.54059	-0.9842	0.34022	T	0.138	0.45489	T	10	0.2951157	0.47081	T	0.023928	0.46909	T	0.038	0.09825	0.415	0.45380	0.726597022132	0.72417	0.5158897907416949	0.51511	0.361407464868	0.37797	0.568220853806	0.48426	T	0.016002	0.13313	T	-0.0315849	0.47186	T	-0.283146	0.46481	T	0.648172438144684	0.38384	D	0.773923	0.40554	T	0.1351388	0.31373	0.19483423	0.43127	0.1351388	0.31373	0.19483423	0.43126	-5.496	0.44233	T	.	.	0.061	0.05668	B	.;.	.;.	3.313450	0.45536	22.1	0.99206758415242768	0.55442	0.75991	0.37237	D	AEFGBHCIJ	0.610560	0.59934	D	-0.198430497629486	0.33200	1.880853	-0.00820486408936611	0.39343	2.331261	0.999999999999988	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.83	4.88	0.63131	5.068000	0.64193	7.340000	0.58244	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0858:0.0:0.9142:0.0	11.078	0.47259	398	0.82839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1692.33	35	chr20	35147228	.	G	A	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.1;DP=788;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.56;SOR=0.822	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr20	35226929	35226929	C	T	exonic	MMP24	.	nonsynonymous SNV	MMP24:NM_006690:exon1:c.C191T:p.A64V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00840192751394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422810610	8.388e-06	2.805e-05	6.683e-06	1.037e-05	9.182e-06	3.49e-06	2.24e-06	3.82e-06	2.46e-06	0	0	0	0	0	0	9.182e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.206	0.27056	T	0.959	0.55135	D	0.499	0.47621	P	.	.	.	.	0.539848	0.32045	D	0	0.06538	N	2.35	0.16217	T	0.07	0.06138	N	0.133	0.12913	-1.0224	0.22932	T	0.021	0.09056	T	7	0.12447482	0.23642	T	0.008402	0.22231	T	0.064	0.18567	0.426	0.47185	0.477838726898	0.47414	0.2613837085853008	0.26051	0.537173882825	0.51028	0.57069170475	0.48775	T	0.042979	0.26357	T	-0.300016	0.08658	T	-0.668728	0.07690	T	0.215956847878891	0.21261	T	0.275872	0.04729	T	0.096768826	0.22800	0.16907942	0.38915	0.096768826	0.22799	0.16907942	0.38914	-4.961	0.36414	T	.	.	0.136	0.29588	B	.	.	1.292305	0.16934	12.85	0.96586301941123565	0.30351	0.00165	0.00980	N	AEFDBCI	0.037519	0.05173	N	-0.81529652825995	0.12920	0.6329383	-0.98126816070685	0.10206	0.5125713	0.969045663229028	0.29098	0.582742	0.33608	0	0.578056	0.33634	0	0.61531	0.40942	0	0.554799	0.18163	0	.	.	.	.	.	-0.111000	0.10778	0.599000	0.19904	0.152000	0.17698	0.000000	0.06391	0.018000	0.20648	0.131000	0.19607	.	.	.	391	0.83213	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	30.9	2	chr20	35226929	.	C	T	30.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=-0.1017;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,11	9	0	1	9
chr20	35277785	35277785	G	C	exonic	MMP24OS	.	nonsynonymous SNV	MMP24OS:NM_001355003:exon2:c.C145G:p.Q49E,MMP24OS:NM_001355004:exon2:c.C145G:p.Q49E	.	1093	351	58	15	5	93	0.111392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6060343	0.0011	0.0051	0.0011	0.0012	0.0033	0.0010	0.0010	0.0022	0.0018	0.0033	0.0015	0.0011	0.0021	5.316e-05	0.0009	0.0010	0.0017	0.0028	0.0023	0.0035	0.0027	0.0020	0.0049	0.0021	0.0020	0.0037	0.0035	0.0044	0.0018	0.0012	0.0018	0.0027	0.0012	0	0.0015	0.0044	0.0049	.	.	.	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.22357	.	.	.	.	.	.	.	0.13149378	0.25026	T	.	.	.	.	.	.	.	.	.	0.007776737269016029	0.00742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244276	0.03572	T	0.08128662	0.18671	0.18744119	0.41976	0.08128662	0.18671	0.18744119	0.41975	-4.795	0.34533	T	.	.	0.072	0.04119	B	.;.	.;.	0.738447	0.11078	7.728	0.42767854438428832	0.03175	0.43818	0.27182	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999977	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.04985	0.00251	1	0.143876	0.04018	0	0.100184	0.22233	3.23	1.08	0.19456	0.237000	0.17763	-0.244000	0.10566	0.389000	0.20474	0.623000	0.27939	0.000000	0.08366	0.036000	0.13842	0.0:0.3493:0.6507:0.0	11.379	0.48987	421	0.81399	.;.	.	.	.	.	rs76468371	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	142.37	26	chr20	35277785	.	G	C	142.37	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.841;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=0.1645;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.465;SOR=0.693	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	10	0	1	8
chr20	35288955	35288955	C	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon2:c.G517A:p.V173M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0130046934248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.01	0.65728	D	0.954	0.54400	P	0.828	0.59497	P	0.000868	0.41335	D	0.147714	0.867791	0.35506	D	2.355	0.67662	M	2.19	0.18724	T	-1.6	0.38540	N	0.548	0.57433	-1.0491	0.14649	T	0.064	0.26527	T	10	0.6760797	0.70999	D	0.013005	0.32054	T	0.197	0.47942	0.737	0.86978	0.195762928549	0.19159	0.5340151712181634	0.53326	0.621202361593	0.56415	0.550098955631	0.45871	T	0.175754	0.52545	T	-0.125322	0.32256	T	-0.417793	0.31328	T	0.925581157207489	0.58739	D	0.933807	0.75196	D	0.16435693	0.36638	0.14609136	0.34625	0.16435693	0.36638	0.14609136	0.34624	-8.111	0.61825	D	.	.	0.343	0.56091	A	.	.	2.467599	0.31802	18.85	0.99631005861451072	0.76020	0.40067	0.26354	N	AEFDBI	0.134244	0.25418	N	-0.24806359354785	0.31182	1.745829	-0.381709350387459	0.25543	1.405309	0.999947395924655	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.32	-0.403	0.11782	1.576000	0.36113	0.601000	0.19925	-0.258000	0.06954	0.976000	0.34826	0.316000	0.24298	0.085000	0.17524	0.0:0.4687:0.0:0.5313	8.012	0.29518	415	0.81806	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	765.33	33	chr20	35288955	.	C	T	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.508;DP=691;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-1.491;SOR=0.512	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	516	0.74704	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	51.65	121	chr20	35466182	.	G	A	51.65	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.165;DP=1361;ExcessHet=0;FS=104.268;InbreedingCoeff=-0.1044;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.644;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1292:.	13	0	1	5
chr20	35479402	35479402	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon16:c.G370A:p.A124T,CEP250:NM_007186:exon18:c.G2266A:p.A756T	.	.	.	.	.	.	.	.	.	.	.	1014093	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00288389448069	0.0002	.	5.839e-05	0	0.0005	0	0	1.516e-05	0	0	4.53e-05	7	154602	rs143763293	2.395e-05	2.394e-05	3.132e-05	1.65e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0.0004	0	2.519e-05	0	0.0002	8.994e-06	0	4.639e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0	0.586	0.05881	T	0.268	0.22494	T	0.002	0.09854	B	0.001	0.04355	B	0.938488	0.08370	N	0.971212	1	0.08975	N	0.255	0.09829	N	2.91	0.10008	T	-0.4	0.13805	N	0.092	0.07125	-0.9667	0.37874	T	0.015	0.05897	T	10	0.017373174	0.00370	T	0.002884	0.06074	T	0.080	0.23350	.	.	0.110078149338	0.10416	0.021294660118888645	0.02082	0.134575765578	0.15155	0.254459381104	0.04252	T	0.024675	0.18600	T	-0.681876	0.00047	T	-0.889284	0.00581	T	0.0210710030039406	0.00809	T	0.644036	0.25562	T	0.011874004	0.00023	0.032912653	0.02102	0.011874004	0.00023	0.032912653	0.02102	-3.948	0.23023	T	.	.	0.066	0.02065	B	.	.	-0.725118	0.01263	0.066	0.76823739088331033	0.11624	0.03770	0.09084	N	AEFDGBHCI	0.020336	0.00793	N	-1.66231181493225	0.00984	0.04266063	-1.78783374559844	0.00799	0.03565314	0.999999999990872	0.74766	0.706548	0.73137	0	0.585951	0.33947	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	-10.3	0.00281	-0.913000	0.04150	-2.284000	0.03952	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2645:0.0:0.611:0.1245	11.7	0.50829	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1005.33	33	chr20	35479402	.	G	A	1005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=709;ExcessHet=0;FS=3.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.385;SOR=1.259	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	18	0	1	0
chr20	35490691	35490691	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon19:c.G745A:p.E249K,CEP250:NM_007186:exon21:c.G2641A:p.E881K	.	.	.	.	.	.	.	.	.	.	.	705449	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	.	0.0058	0.00299521	0.0045	0.0014	0.0042	0	0.0023	0.0067	0.0044	0.0013	0.0051487	796	154602	rs140439099	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0084	0.0084	0.0012	0.0062	0.0029	5.038e-05	0.0030	0.0014	0.0086	0.0070	0.0015	0.0059	0.0059	0.0061	0.0056	0.0101	0.0056	0.0054	0.0088	0.0083	0.0020	0.0088	0.0101	0.0043	0.0002	0.0026	0	0.0085	0.0076	0.0010	0.31	0.14017	T	0.345	0.17750	T	0.006	0.13644	B	0.009	0.14300	B	0.006884	0.31732	N	0.218246	1	0.08975	N	1.24	0.30952	L	2.75	0.11622	T	-1.44	0.35399	N	0.129	0.12341	-1.0156	0.25143	T	0.015	0.05946	T	10	0.0032546818	0.00056	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	0.2123187521856353	0.21147	0.161212236741	0.18198	0.312664866447	0.12310	T	0.046262	0.27370	T	-0.672853	0.00053	T	-0.728252	0.04407	T	0.00222352129367201	0.00023	T	0.737326	0.35372	T	0.03092015	0.02840	0.056623075	0.10151	0.03092015	0.02840	0.056623075	0.10151	-4.781	0.34369	T	.	.	0.070	0.03625	B	.	.	1.302749	0.17048	12.93	0.97533180136302278	0.34469	0.09396	0.15160	N	AEFDGBHCI	0.023930	0.01404	N	-0.942631973974886	0.09859	0.4684862	-0.955995994695565	0.10783	0.5453933	0.999999951128063	0.74766	0.706548	0.73137	0	0.484254	0.07192	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	4.47	0.39	0.15500	-0.027000	0.12319	2.709000	0.34221	-0.105000	0.15698	0.001000	0.13787	0.662000	0.26021	0.908000	0.44358	0.4146:0.0:0.5854:0.0	6.350	0.20574	553	0.71930	.	.	.	.	.	rs140439099	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001515	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1534.33	35	chr20	35490691	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=735;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.84;SOR=1.131	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	18	0	1	0
chr20	35503696	35503696	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.G3431A:p.R1144Q,CEP250:NM_007186:exon30:c.G5327A:p.R1776Q	.	.	.	.	.	.	.	.	.	.	.	1946660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0327120170084	.	.	8.28e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs769073349	4.789e-06	4.788e-06	5.445e-06	4.125e-06	5.974e-05	1.99e-06	1.28e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	2.698e-06	0	1.159e-05	1.315e-05	1.313e-05	0	2.691e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.006	0.61437	D	0.151	0.32355	T	0.998	0.73220	D	0.875	0.62107	P	0.049788	0.23129	N	0.309792	1	0.08975	N	2.56	0.74772	M	2.52	0.54911	T	-1.17	0.29933	N	0.101	0.08366	-0.8576	0.51434	T	0.236	0.60343	T	10	0.10089037	0.18401	T	0.032712	0.54460	D	0.055	0.15663	0.145	0.04843	0.682685154404	0.67998	0.222547559851188	0.22169	0.177799176381	0.20007	0.243774175644	0.03140	T	0.02449	0.19081	T	-0.270556	0.11694	T	-0.529558	0.19330	T	0.425602406263351	0.29898	T	0.80142	0.45992	T	0.052631103	0.09844	0.056997746	0.10282	0.052631103	0.09844	0.056997746	0.10282	-5.787	0.44461	T	.	.	0.073	0.05623	B	.;.	.;.	2.984012	0.39815	21.0	0.99676431059806336	0.78977	0.38377	0.25974	N	AEFDGBI	0.055793	0.10261	N	-0.0261499856658901	0.40673	2.419517	-0.157011548851498	0.33140	1.89259	0.982502839926321	0.30408	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	0.48	0.16014	0.243000	0.17880	2.464000	0.32868	-0.106000	0.15538	0.000000	0.06391	1.000000	0.68203	0.882000	0.42233	0.5123:0.0:0.4877:0.0	8.023	0.29582	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1408.33	40	chr20	35503696	.	G	A	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=800;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.66;SOR=0.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1555	18	0	1	0
chr20	35504343	35504343	C	T	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.C4078T:p.R1360C,CEP250:NM_007186:exon30:c.C5974T:p.R1992C	.	425	1088	9	0	0	9	0.00411899	.	.	.	742375	not_provided|CEP250-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00744337336296	0.0027	0.00119808	0.0046	0.0012	0.0033	0.0003	0.0077	0.0057	0.0048	0.0038	0.002639	408	154602	rs41290926	0.0031	0.0031	0.0031	0.0032	0.0038	0.0031	0.0030	0.0032	0.0032	0.0005	0.0025	0.0039	0.0002	0.0040	0.0038	0.0033	0.0026	0.0029	0.0029	0.0029	0.0029	0.0028	0.0044	0.0027	0.0026	0.0040	0.0039	0.0010	0	0.0018	0.0035	0.0004	0.0039	0.0068	0.0044	0.0028	0.0010	0.162	0.26852	T	0.143	0.34596	T	0.003	0.11197	B	0.003	0.08700	B	0.608827	0.10887	N	0.820562	1	0.08975	N	1.1	0.28011	L	2.71	0.49358	T	-1.65	0.63438	N	0.064	0.03613	-1.0278	0.21168	T	0.078	0.31224	T	10	0.0033931136	0.00059	T	0.007443	0.19739	T	0.010	0.01040	.	.	0.442160178816	0.43838	0.07086943398542027	0.07023	0.192361749996	0.21563	0.20277056098	0.00541	T	0.036239	0.36102	T	-0.572368	0.00214	T	-0.592747	0.13430	T	0.00551139833997511	0.00060	T	0.837416	0.50983	T	0.056217723	0.11030	0.037594832	0.03447	0.04804123	0.08310	0.05243614	0.08639	-6.513	0.50387	T	.	.	0.092	0.19639	B	.;.	.;.	1.294203	0.16952	12.87	0.88366233913047632	0.17920	0.04928	0.10684	N	AEFDGBIJ	0.071595	0.14260	N	-0.921755398893209	0.10335	0.4933343	-0.882943617106219	0.12497	0.6432212	0.824898152481492	0.24589	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	3.13	0.35090	-0.191000	0.09598	0.136000	0.15109	-0.182000	0.10109	0.000000	0.06391	0.003000	0.18671	0.331000	0.25224	0.1299:0.5923:0.1265:0.1512	3.986	0.09008	542	0.72843	.;.	.	.	.	.	rs41290926	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002530	0.005155	0.002717	0.000000	0.050000	0.000000	0.003086	0.000000	0.02632	1097.33	40	chr20	35504343	.	C	T	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=762;ExcessHet=0;FS=1.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.232;SOR=0.463	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1243	18	0	1	0
chr20	35504385	35504385	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.G4120A:p.D1374N,CEP250:NM_007186:exon30:c.G6016A:p.D2006N	.	.	.	.	.	.	.	.	.	.	.	705452	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0058	0.00299521	0.0072	0.0019	0.0083	0	0.0047	0.0103	0.0063	0.0020	0.005097	788	154602	rs61729988	0.0074	0.0074	0.0076	0.0073	0.0087	0.0073	0.0073	0.0085	0.0085	0.0013	0.0069	0.0029	5.106e-05	0.0031	0.0030	0.0087	0.0073	0.0015	0.0060	0.0060	0.0062	0.0058	0.0105	0.0057	0.0055	0.0092	0.0087	0.0022	0.0088	0.0105	0.0043	0.0002	0.0028	0.0034	0.0086	0.0076	0.0010	0.081	0.33418	T	0.15	0.56640	T	0.117	0.26519	B	0.043	0.24256	B	0.326539	0.14184	N	0.658158	0.996073	0.23122	N	1.14	0.29013	L	2.89	0.47130	T	-1.05	0.42191	N	0.209	0.23253	-1.0365	0.18388	T	0.073	0.29707	T	10	0.0037613213	0.00070	T	.	.	.	0.050	0.13987	.	.	0.505946769237	0.50232	0.16266600672197243	0.16186	0.168499253549	0.19000	0.421003639698	0.27974	T	0.031265	0.24611	T	-0.63691	0.00087	T	-0.675977	0.07231	T	0.00570501337630532	0.00062	T	0.815518	0.47040	T	0.04157345	0.06149	0.03967923	0.04115	0.030423123	0.02703	0.03967923	0.04114	-5.726	0.43924	T	.	.	0.116	0.31228	B	.;.	.;.	1.968404	0.25002	16.60	0.99603177741504267	0.74338	0.72367	0.35423	D	AEFDBIJ	0.046972	0.07860	N	-0.358405885310734	0.26965	1.475754	-0.297047835924146	0.28196	1.57013	0.816836390291296	0.24453	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.08	4.1	0.47196	1.051000	0.30027	7.212000	0.57825	0.676000	0.76740	0.824000	0.30046	1.000000	0.68203	0.017000	0.10941	0.2803:0.0:0.7197:0.0	5.963	0.18545	542	0.72843	.;.	.	.	.	.	rs61729988	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002525	0.015464	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1130.33	40	chr20	35504385	.	G	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.773;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.11;SOR=0.741	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1243	18	0	1	0
chr20	35547502	35547502	T	C	exonic	ERGIC3	.	nonsynonymous SNV	ERGIC3:NM_015966:exon5:c.T458C:p.I153T,ERGIC3:NM_198398:exon5:c.T458C:p.I153T	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00990830952827	0.0012	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0045	0.0008	0.0010931	169	154602	rs142274713	0.0008	0.0008	0.0008	0.0009	0.0024	0.0008	0.0008	0.0015	0.0012	5.974e-05	0.0003	0.0256	0	0	0.0024	0.0002	0.0027	0.0008	0.0011	0.0011	0.0011	0.0010	0.0008	0.0009	0.0009	0.0004	0.0003	2.409e-05	0	0.0007	0.0308	0	0	0.0068	0.0005	0.0038	0.0008	0.587	0.05862	T	0.571	0.08777	T	0.033	0.20350	B	0.026	0.20792	B	0.001746	0.38106	N	0.262081	0.985874	0.40347	D	0.99	0.25021	L	1.03	0.40469	T	-0.52	0.21429	N	0.589	0.60918	-1.0290	0.20778	T	0.107	0.38955	T	10	0.007498175	0.00170	T	0.009908	0.25811	T	0.139	0.37390	.	.	0.695407094849	0.69278	0.26190116897629406	0.26104	0.686437736936	0.60330	0.592793703079	0.51889	T	0.030563	0.21635	T	-0.366103	0.03796	T	-0.380441	0.35669	T	0.0271828729148389	0.01570	T	0.916008	0.92042	D	0.040890977	0.05922	0.048959766	0.07382	0.040890977	0.05921	0.048959766	0.07382	-2.0	0.03181	T	.	.	0.155	0.46354	B	.;.;.	.;.;.	2.882806	0.38153	20.7	0.86047667283514762	0.16279	0.99058	0.90610	D	AEFDBHI	0.869354	0.78984	D	0.131869886628647	0.47955	3.014056	0.227592926014857	0.51383	3.321382	0.99938587036908	0.39415	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	3.57	0.40014	5.715000	0.68081	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.1651:0.8349	11.125	0.47538	489	0.76795	Endoplasmic reticulum vesicle transporter, C-terminal;.;Endoplasmic reticulum vesicle transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1231.33	35	chr20	35547502	.	T	C	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=766;ExcessHet=0;FS=5.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.17;SOR=0.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1281:.	18	0	1	0
chr20	35619309	35619309	A	C	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon9:c.A677C:p.E226A,SPAG4:NM_003116:exon9:c.A908C:p.E303A	.	432	1089	1	0	0	1	0.000458926	0.9885	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0473203119323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.025	0.63918	D	0.999	0.77913	D	0.989	0.78396	D	0.000022	0.55875	D	0.123818	0.991041	0.41295	D	2.365	0.68172	M	0.92	0.44461	T	-4.29	0.76740	D	0.471	0.50688	-0.5851	0.65415	T	0.240	0.60738	T	10	0.6680449	0.70545	D	0.04732	0.62865	D	0.376	0.69443	0.588	0.71623	0.746029032586	0.74374	0.6658043015368502	0.66517	1.38762659215	0.84917	0.686198115349	0.65158	T	0.104868	0.41482	T	0.0828285	0.62370	D	-0.118799	0.61901	T	0.990841269493103	0.81079	D	0.827917	0.49191	T	0.38637522	0.59774	0.29009596	0.55032	0.38637522	0.59774	0.29009596	0.55031	-7.352	0.56565	T	.	.	0.723	0.73901	P	.;.	.;.	5.753162	0.93392	33	0.99540254624643698	0.70461	0.72989	0.35710	D	ALL	0.592930	0.58845	D	0.619155252667615	0.74387	6.124097	0.563334659907325	0.72332	5.792907	0.999999999680619	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.87	4.87	0.62877	3.267000	0.51279	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	1.0:0.0:0.0:0.0	11.047	0.47080	469	0.78175	SUN domain|SUN domain;SUN domain|SUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1252.33	41	chr20	35619309	.	A	C	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.872;SOR=0.726	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1257	18	0	1	0
chr20	35627326	35627326	T	C	exonic	CPNE1	.	nonsynonymous SNV	CPNE1:NM_001198863:exon14:c.A1190G:p.H397R,CPNE1:NM_003915:exon14:c.A1205G:p.H402R,CPNE1:NM_152925:exon14:c.A1190G:p.H397R,CPNE1:NM_152926:exon14:c.A1190G:p.H397R,CPNE1:NM_152927:exon15:c.A1190G:p.H397R,CPNE1:NM_152928:exon15:c.A1190G:p.H397R	.	430	1083	9	0	0	9	0.00413793	.	.	.	4121529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.364	0.0133580211815	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762381858	6.021e-05	6.02e-05	6.263e-05	5.777e-05	0.0005	4.962e-05	4.628e-05	0.0001	7.541e-05	0	0	0	5.04e-05	0	0.0005	7.196e-05	3.313e-05	1.159e-05	3.302e-05	3.289e-05	1.292e-05	5.405e-05	6.571e-05	1.266e-05	8.01e-06	1.172e-05	6.25e-06	0	0	6.571e-05	0	0	0	0.0034	4.416e-05	0	0	0.164	0.25255	T	0.165	0.31026	T	0.012	0.90584	B	0.115	0.97372	B	0.000000	0.84330	U	0.000000	0.999952	0.52396	D	2.57	0.75187	M	2.0	0.21473	T	-6.72	0.93060	D	0.83	0.82559	-0.3500	0.73554	T	0.362	0.72369	T	10	0.72346807	0.73817	D	0.013358	0.32703	T	0.475	0.76751	0.715	0.85051	0.503498835695	0.49987	0.85339063387328	0.85301	0.808806275993	0.66640	0.692456901073	0.66059	T	0.113163	0.42999	T	0.0713643	0.61013	D	0.0506372	0.73627	D	0.490309731710405	0.32275	T	0.838016	0.51562	T	0.65434885	0.75596	0.7076564	0.82761	0.65434885	0.75597	0.7076564	0.82762	-9.328	0.69782	D	.	.	0.278	0.58357	B	.;.;.;.;.;.	.;.;.;.;.;.	3.948592	0.57831	23.9	0.99548381439555877	0.70961	0.99542	0.97254	D	AEFDBI	0.919160	0.88927	D	0.457032419758038	0.64604	4.718602	0.498468169810925	0.67887	5.144752	0.999249472404768	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	6.247000	0.72367	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	13.940	0.63554	427	0.81056	Copine|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|Copine;Copine;Copine|von Willebrand factor, type A|Copine;Copine	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1583.33	40	chr20	35627326	.	T	C	1583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=874;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.041;SOR=0.579	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr20	35954071	35954071	G	C	exonic	SCAND1	.	nonsynonymous SNV	SCAND1:NM_033630:exon2:c.C214G:p.L72V,SCAND1:NM_001385710:exon3:c.C214G:p.L72V,SCAND1:NM_016558:exon3:c.C214G:p.L72V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00383084824038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.222e-07	6.84e-07	1.421e-06	0	9.341e-07	0	0	.	.	0	0	0	0	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.632	0.07150	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	3.0	0.09167	T	-0.34	0.12661	N	0.019	0.00770	-0.9487	0.41194	T	0.017	0.06759	T	9	0.055588305	0.06100	T	0.003831	0.08961	T	0.116	0.32463	0.163	0.06730	0.17258766438	0.16869	0.1339823741224856	0.13322	0.812225268878	0.66784	0.555836200714	0.46679	T	0.026445	0.19569	T	-0.36719	0.03739	T	-0.76522	0.02929	T	0.0703783974407971	0.08704	T	0.385761	0.09460	T	0.04258512	0.06484	0.06885366	0.14434	0.04258512	0.06483	0.06885366	0.14434	-3.798	0.20775	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	0.754431	0.11243	7.871	0.75913921864971712	0.11260	0.05371	0.11233	N	ALL	0.096154	0.19416	N	-0.946541848111273	0.09770	0.4638963	-0.944558829449958	0.11050	0.5605381	0.999999996126399	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.91	1.51	0.22094	0.657000	0.24647	0.744000	0.21184	0.676000	0.76740	0.003000	0.16062	0.014000	0.20376	0.001000	0.02609	0.0908:0.0:0.6698:0.2394	7.281	0.25484	691	0.58815	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	893.33	41	chr20	35954071	.	G	C	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.544;DP=750;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.38;SOR=0.505	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	18	0	1	0
chr20	36030631	36030631	C	T	exonic	CNBD2	.	stopgain	CNBD2:NM_001365709:exon12:c.C1714T:p.R572X,CNBD2:NM_080834:exon12:c.C1702T:p.R568X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65e-05	0	0	0.0001	0	1.501e-05	0	0	1.29e-05	2	154602	rs750499821	1.915e-05	1.915e-05	1.497e-05	2.338e-05	5.975e-05	1.328e-05	1.144e-05	1.213e-05	1.03e-05	5.975e-05	0	0	2.519e-05	0	0	1.888e-05	4.967e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.115374	0.19236	N	0.443048	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.201	0.22870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442198	0.92126	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.398792	0.97518	37	0.99341546123779623	0.60210	0.69490	0.34208	D	AEFBI	0.170916	0.29785	N	0.86128213457654	0.89741	10.09793	0.673339121030484	0.80361	7.281465	5.21672025081835E-4	0.07225	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.33	4.34	0.51267	2.032000	0.40747	1.587000	0.27508	0.599000	0.40250	0.998000	0.41325	0.253000	0.23932	0.776000	0.36750	0.1743:0.8257:0.0:0.0	11.844	0.51650	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	38	chr20	36030631	.	C	T	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=735;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.784;SOR=0.486	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr20	36209533	36209533	C	T	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon14:c.C1492T:p.R498C,EPB41L1:NM_177996:exon14:c.C1492T:p.R498C,EPB41L1:NM_012156:exon15:c.C1714T:p.R572C,EPB41L1:NM_001258329:exon16:c.C1714T:p.R572C	.	.	.	.	.	.	.	.	.	.	.	2824382	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.362	0.0288551533915	.	0.000199681	0.0002	9.709e-05	0	0.0024	0	1.508e-05	0	6.101e-05	0.0001811	28	154602	rs113352451	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0037	0.0035	0.0001	4.473e-05	0	0.0042	0	0	6.295e-06	0.0001	4.637e-05	5.913e-05	6.562e-05	2.571e-05	9.407e-05	0.0014	3.077e-05	2.21e-05	0.0006	0.0005	2.409e-05	0	0	0	0.0014	0	0	1.47e-05	0	0	0.026	0.72154	D	0.045	0.51737	D	0.894	0.49185	P	0.231	0.41696	B	0.158700	0.03021	U	391.976000	0.999964	0.81001	D	0.55	0.14455	N	-1.88	0.84487	D	-1.9	0.49519	N	0.565	0.64648	-0.2251	0.77016	T	0.700	0.89675	D	10	0.026827455	0.00841	T	0.028855	0.51467	D	0.362	0.68230	.	.	0.739132480594	0.73679	0.518468967786328	0.51769	0.520938504507	0.49879	0.696475923061	0.66635	T	0.195491	0.55159	T	-0.205176	0.20062	T	-0.0718005	0.65497	T	0.0535480260963368	0.06113	T	0.984801	0.94749	D	0.13415381	0.31178	0.07659232	0.16979	0.13415381	0.31178	0.07659232	0.16979	-6.003	0.48317	T	0.5007249549048864	0.57598	0.139	0.43612	B	.;.;.;.;.;.	.;.;.;.;.;.	5.783986	0.93538	33	0.9989786620685065	0.97048	0.93391	0.58091	D	AEFDBI	0.598062	0.59160	D	0.346981567298322	0.58579	4.031118	0.464234860766475	0.65636	4.848866	0.976911747103222	0.29770	0.661447	0.50134	0	0.59043	0.45803	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	5.366000	0.65873	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.738	0.88306	795	0.45444	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1894.33	35	chr20	36209533	.	C	T	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=797;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.015;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	18	0	1	0
chr20	36255683	36255683	G	A	exonic	AAR2	.	nonsynonymous SNV	AAR2:NM_001271874:exon4:c.G1093A:p.A365T,AAR2:NM_015511:exon4:c.G1093A:p.A365T	.	430	1063	27	2	0	31	0.0143718	.	.	.	728627	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00456560478913	0.0045	0.00199681	0.0048	0.0007	0.0022	0	0.0030	0.0059	0.0066	0.0078	0.0047541	735	154602	rs141340897	0.0054	0.0054	0.0052	0.0056	0.0104	0.0053	0.0053	0.0083	0.0075	0.0008	0.0029	0.0026	2.519e-05	0.0033	0.0104	0.0059	0.0047	0.0076	0.0046	0.0046	0.0048	0.0044	0.0069	0.0043	0.0042	0.0059	0.0057	0.0009	0.0296	0.0069	0.0023	0.0002	0.0038	0.0204	0.0064	0.0062	0.0058	0.359	0.11957	T	0.488	0.11621	T	0.006	0.13644	B	0.02	0.19048	B	.	.	.	.	0.905415	0.81001	D	1.445	0.36358	L	0.94	0.43672	T	-0.19	0.09965	N	0.103	0.08646	-1.0467	0.15332	T	0.061	0.25455	T	9	0.0059212446	0.00133	T	0.004566	0.11252	T	0.057	0.16321	.	.	0.556811950826	0.55341	0.06101420694278821	0.06041	0.215112681451	0.24044	0.32391834259	0.14015	T	0.020763	0.16287	T	-0.457199	0.01023	T	-0.423255	0.30702	T	0.00863834843521966	0.00106	T	0.813219	0.46599	T	0.023970261	0.01184	0.077737264	0.17346	0.030735558	0.02788	0.09245888	0.21790	-5.736	0.44013	T	0.2684861974635976	0.36156	0.086	0.11124	B	.;.	.;.	2.830690	0.37313	20.5	0.99001449766399652	0.50168	0.95450	0.64769	D	AEFDBI	0.363660	0.45248	N	-0.31823185212097	0.28455	1.569668	-0.179261250004769	0.32300	1.836268	0.999998790756796	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.21	0.72005	3.741000	0.54810	5.070000	0.47169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:0.8287:0.1713	14.709	0.68826	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.005051	0.006793	0.005848	0.000000	0.000000	0.012195	0.007576	0.05263	2123.83	38	chr20	36255683	.	G	A	2123.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.196;DP=804;ExcessHet=0.119;FS=4.073;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.664;SOR=0.468	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1214	17	0	2	0
chr20	36446779	36446779	C	T	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon7:c.C1490T:p.T497M,DLGAP4:NM_014902:exon7:c.C1490T:p.T497M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2286454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0920834244022	0.0002	0.000199681	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.000207	32	154602	rs192489219	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0046	0.0041	0.0002	0.0006	0	0	0	0.0062	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.695e-05	0.0002	0.0001	7.216e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0002	0.003	0.72154	D	0.071	0.44106	T	0.008	0.14655	B	0.003	0.08700	B	0.007455	0.31390	N	0.365553	0.997501	0.22632	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.89	0.24460	N	0.254	0.28732	-0.6641	0.62095	T	0.306	0.67685	T	10	0.04709211	0.03983	T	0.092083	0.75825	D	0.357	0.67782	.	.	0.708804461636	0.70626	0.2868838773768702	0.28601	0.560121123074	0.52549	0.361344277859	0.19581	T	0.031847	0.22228	T	-0.173202	0.24752	T	-0.152419	0.59029	T	0.047667719182149	0.05085	T	0.948505	0.80194	D	0.063621186	0.13416	0.06806646	0.14166	0.063621186	0.13416	0.06806646	0.14166	-6.585	0.51388	T	.	.	0.087	0.14568	B	.;.;.;.	.;.;.;.	3.020568	0.40428	21.2	0.98711629417181601	0.45069	0.66660	0.33155	D	AEFDGBCI	0.178844	0.30612	N	-0.519810980954055	0.21440	1.137831	-0.314450779623496	0.27632	1.534635	0.998803929957331	0.37711	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	5.66	3.53	0.39533	2.247000	0.42803	4.002000	0.41083	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.624000	0.32000	0.0:0.7098:0.0:0.2902	6.841	0.23145	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	957.33	33	chr20	36446779	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=736;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.507;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	18	0	1	0
chr20	36614435	36614435	G	T	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon7:c.C535A:p.L179M	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00452788909904	0.0002	0.000798722	0.0002	0	0.0003	0	0	0.0001	0	0.0007	0.0001746	27	154602	rs369586607	9.427e-05	9.577e-05	9.031e-05	9.828e-05	0.0004	8.14e-05	7.629e-05	0.0003	0.0002	0	0.0003	0.0007	0	0	0.0004	6.051e-05	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0006	0	0	0.0102	0.0001	0.0005	0.0012	0.119	0.28026	T	0.246	0.23984	T	0.097	0.25541	B	0.07	0.27859	B	0.056136	0.22585	N	0.445847	1	0.81001	D	-1.04	0.01097	N	1.53	0.30401	T	0.45	0.03191	N	0.308	0.34767	-1.0530	0.13574	T	0.020	0.08407	T	10	0.012608767	0.00270	T	0.004528	0.11157	T	0.019	0.03383	.	.	0.238705975628	0.23479	0.28377766907229196	0.28290	0.244945792748	0.27014	0.477763593197	0.35749	T	0.059387	0.31103	T	-0.532285	0.00372	T	-0.663975	0.08001	T	0.0325337067276806	0.02394	T	0.157684	0.01397	T	0.19506036	0.41279	0.07444584	0.16288	0.19506036	0.41279	0.07444584	0.16288	-2.374	0.04976	T	.	.	0.095	0.14979	B	.	.	2.293992	0.29350	18.09	0.96096459878269869	0.28700	0.51746	0.28968	D	AEFDGBHCI	0.071339	0.14199	N	-0.72194443781758	0.15406	0.7761154	-0.527515402175689	0.21407	1.157907	0.999421487112394	0.39630	0.498214	0.20090	0	0.573116	0.20632	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.22	0.466	0.15928	0.112000	0.15312	1.369000	0.25941	-0.143000	0.12349	0.974000	0.34632	0.976000	0.30059	0.984000	0.60418	0.1919:0.1424:0.3439:0.3218	0.871	0.01136	367	0.84523	SH2 domain|SH2 domain|SH2 domain|SLAP, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	216.33	35	chr20	36614435	.	G	T	216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=-0.977;SOR=0.846	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1298	18	0	1	0
chr20	36615354	36615354	G	A	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon6:c.C403T:p.R135C,SLA2:NM_175077:exon6:c.C403T:p.R135C	.	.	.	.	.	.	.	.	.	.	.	3332366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.821	0.422431596037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306590236	3.557e-05	3.625e-05	3.948e-05	3.163e-05	4.227e-05	2.762e-05	2.501e-05	3.257e-05	2.918e-05	0	0	0	0	0	0	4.227e-05	6.624e-05	1.159e-05	3.944e-05	3.94e-05	6.424e-05	1.346e-05	0.0002	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.057526	0.999967	0.52935	D	2.21	0.62235	M	-2.52	0.89363	D	-5.56	0.86296	D	0.86	0.85766	0.755	0.93857	D	0.799	0.93198	D	10	0.9748113	0.97206	D	0.422432	0.93820	D	0.821	0.94276	.	.	0.920338632212	0.91953	0.7526863225782747	0.75215	0.995115495999	0.74196	0.630425333977	0.57206	T	0.676591	0.90458	D	0.37394	0.88316	D	0.314848	0.88871	D	0.983280539512634	0.75008	D	0.932107	0.81930	D	0.8431671	0.86836	0.5014639	0.71179	0.8431671	0.86837	0.5014639	0.71179	-9.48	0.70735	D	.	.	0.525	0.65692	A	.;.	.;.	4.089704	0.60902	24.3	0.99856505141905372	0.93548	0.72581	0.35521	D	AEFGBHCI	0.182987	0.31031	N	0.309119407237084	0.56615	3.826549	0.230356378851174	0.51540	3.335641	0.999995063362407	0.74766	0.57788	0.32782	0	0.379588	0.06130	0	0.608075	0.38828	0	0.711	0.71501	0	.	.	6.17	4.16	0.48138	0.924000	0.28378	5.522000	0.48825	-0.162000	0.11565	0.999000	0.42656	1.000000	0.68203	0.135000	0.19760	0.0:0.0:0.5853:0.4147	12.872	0.57359	365	0.84644	SH2 domain|SH2 domain|SH2 domain|SH2 domain|SLAP, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	508.33	34	chr20	36615354	.	G	A	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=644;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.488;SOR=1.292	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1144	18	0	1	0
chr20	36634550	36634550	G	A	exonic	SLA2	.	nonsynonymous SNV	SLA2:NM_032214:exon3:c.C131T:p.P44L,SLA2:NM_175077:exon3:c.C131T:p.P44L	.	429	1069	23	1	0	25	0.011558	.	.	.	716945	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	0.0498057013232	0.0025	0.000998403	0.0027	0.0003	0.0010	0	0.0005	0.0041	0.0046	0.0016	0.0023997	371	154602	rs145656453	0.0020	0.0020	0.0019	0.0021	0.0165	0.0019	0.0019	0.0138	0.0128	0.0003	0.0018	0.0236	2.525e-05	0.0002	0.0165	0.0015	0.0036	0.0016	0.0021	0.0021	0.0022	0.0020	0.0024	0.0019	0.0018	0.0020	0.0019	0.0002	0.0011	0.0024	0.0231	0	0.0004	0.0374	0.0023	0.0052	0.0019	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.11	0.58565	M	0.77	0.49642	T	-7.16	0.94249	D	0.602	0.67045	-0.6259	0.63743	T	0.258	0.62811	T	10	0.013395965	0.00284	T	0.049806	0.63971	D	0.358	0.67872	.	.	0.794046541005	0.79213	0.692351275513148	0.69175	0.854413932334	0.68691	0.520399034023	0.41683	T	0.221004	0.58445	T	-0.239733	0.15382	T	-0.122063	0.61633	T	0.0668209488292126	0.08197	T	0.770723	0.40088	T	0.7209063	0.79211	0.701197	0.82393	0.7209063	0.79213	0.701197	0.82394	-7.672	0.60091	D	.	.	0.199	0.44267	B	.;.	.;.	4.677794	0.74826	26.2	0.99893802504246321	0.96742	0.93514	0.58424	D	AEFDGI	0.600018	0.59281	D	0.611719667730828	0.73913	6.044666	0.568534783179071	0.72696	5.850796	0.999651124038286	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	5.636000	0.67521	11.731000	0.94998	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.293000	0.24333	0.0:0.0:1.0:0.0	15.705	0.77333	353	0.85335	SH3 domain|SH3 domain|SH3 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.010101	0.010870	0.020468	0.000000	0.051724	0.009146	0.003788	0.02632	1597.33	40	chr20	36634550	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=772;ExcessHet=0;FS=4.198;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.057;SOR=1.075	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1611,0,1562	18	0	1	0
chr20	36770908	36770908	C	T	exonic	DSN1	.	nonsynonymous SNV	DSN1:NM_001145318:exon2:c.G272A:p.R91Q,DSN1:NM_001145315:exon3:c.G320A:p.R107Q,DSN1:NM_001145316:exon3:c.G320A:p.R107Q,DSN1:NM_024918:exon3:c.G320A:p.R107Q	.	.	.	.	.	.	.	.	.	.	.	3244831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.00906169861912	.	.	4.96e-05	0	8.642e-05	0	0	1.504e-05	0	0.0002	3.88e-05	6	154602	rs769936599	6.502e-05	6.498e-05	6.401e-05	6.603e-05	0.0002	5.431e-05	5.044e-05	0.0001	0.0001	5.975e-05	0.0001	0	0	0	0	6.026e-05	4.97e-05	0.0002	4.6e-05	4.597e-05	3.855e-05	5.381e-05	0.0004	2.11e-05	1.527e-05	7.279e-05	3.025e-05	2.414e-05	0	6.549e-05	0	0	0	0	4.41e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000749	0.42006	D	0.156689	0.864996	0.81001	D	1.545	0.39105	L	.	.	.	-3.59	0.69236	D	0.703	0.70878	-0.4842	0.69216	T	0.271	0.64235	T	9	0.4926822	0.61084	T	0.009062	0.23845	T	0.244	0.55061	0.706	0.84236	0.794854992122	0.79294	0.4909761165368834	0.49018	0.965687681766	0.73165	0.395861238241	0.24493	T	0.421647	0.77297	T	-0.0348021	0.46717	T	-0.0510987	0.66948	D	0.768848240375519	0.44370	D	0.90311	0.66064	D	0.6432216	0.75003	0.565278	0.74839	0.6432216	0.75004	0.565278	0.74840	-4.775	0.34823	T	.	.	0.430	0.65001	A	.;.;.;.;.;.	.;.;.;.;.;.	5.234434	0.87868	29.4	0.9995546698748321	0.99975	0.83269	0.42400	D	AEFBHCI	0.600703	0.59323	D	0.584310384307921	0.72196	5.767647	0.596130396847208	0.74660	6.17533	0.999999999999999	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	3.711000	0.54596	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	13.927	0.63474	730	0.54327	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	278.33	34	chr20	36770908	.	C	T	278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.394;DP=694;ExcessHet=0;FS=38.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.76;ReadPosRankSum=-0.328;SOR=5.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	18	0	1	0
chr20	36794450	36794450	G	A	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon14:c.C3632T:p.T1211I,SOGA1:NM_199181:exon14:c.C2918T:p.T973I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00512906475988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.57480	T	0.188	0.30926	T	.	.	.	.	.	.	0.442427	0.12610	N	0.779066	0.998154	0.22513	N	.	.	.	2.29	0.19588	T	-1.44	0.35399	N	0.029	0.06854	-1.0385	0.17771	T	0.036	0.15596	T	10	0.075695395	0.11732	T	0.005129	0.13032	T	0.021	0.04004	0.166	0.07071	0.0675242888579	0.06100	0.1594210965582797	0.15863	0.00238928338445	0.00204	0.33463126421	0.15633	T	0.009003	0.08221	T	-0.247363	0.14425	T	-0.593096	0.13398	T	0.0855223277813334	0.10678	T	0.80392	0.45144	T	.	.	.	.	.	.	.	.	-3.514	0.16628	T	.	.	0.140	0.30765	B	.;.	.;.	2.049275	0.26049	16.98	0.98405487624108356	0.41116	0.87947	0.47667	D	AEFDBI	0.145962	0.26929	N	-0.292799201794534	0.29426	1.631673	-0.124497682141154	0.34404	1.978684	0.00660164793047681	0.11261	0.706548	0.73137	0	0.708844	0.79440	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	4.16	0.48138	0.381000	0.20348	6.466000	0.55704	0.672000	0.70159	0.379000	0.25998	1.000000	0.68203	0.754000	0.35928	0.0:0.1498:0.6954:0.1548	10.058	0.41429	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	33	chr20	36794450	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=765;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.23;SOR=0.734	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1629,0,1891	18	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	198.74	34	chr20	37007453	.	C	G	198.74	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.541;DP=1201;ExcessHet=0.7564;FS=109.594;InbreedingCoeff=-0.1229;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.19;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,13:80:39:.:.:39,0,1649:.	15	0	4	0
chr20	37129076	37129076	G	A	exonic	MROH8	.	unknown	UNKNOWN	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00612546320582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.23e-07	6.84e-07	1.632e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.274e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.007	0.69154	D	0.993	0.65571	D	0.813	0.58748	P	0.079111	0.21004	N	0.453075	0.82145	0.34782	D	.	.	.	4.42	0.02177	T	-2.19	0.49352	N	0.478	0.51315	-0.4656	0.69878	T	0.269	0.64055	T	10	0.30181515	0.47722	T	0.006125	0.16023	T	0.135	0.36572	0.403	0.43408	0.239305524855	0.23518	.	.	.	.	0.529871582985	0.43017	T	.	.	.	-0.0367999	0.46423	T	-0.290637	0.45707	T	0.967573642730713	0.67954	D	0.793521	0.43550	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.780506	0.54354	23.5	0.99812180103639903	0.89620	0.86796	0.46155	D	AEFDBI	0.578334	0.57958	D	0.385081918130576	0.60613	4.25216	0.454661408249036	0.65017	4.770788	0.987510852579547	0.31283	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	4.409000	0.59524	11.271000	0.91406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	14.552	0.67663	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1781.83	36	chr20	37129076	.	G	A	1781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=725;ExcessHet=0.119;FS=3.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.538;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	17	0	2	0
chr20	37944140	37944140	A	G	exonic	VSTM2L	.	nonsynonymous SNV	VSTM2L:NM_080607:exon4:c.A502G:p.N168D	.	397	1122	3	0	0	3	0.00133511	.	.	.	2211222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.0495875503187	0.0003	.	0.0005	0	0	0	0	0.0010	0	0	0.0003558	55	154602	rs139453151	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	2.994e-05	4.52e-05	0	0	5.7e-05	0.0002	0.0004	0.0004	2.342e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.421e-05	0	0	0	0	9.448e-05	0	0.0006	0.0005	0	0.52	0.07259	T	0.496	0.11335	T	0.011	0.15914	B	0.006	0.12133	B	0.114622	0.19267	N	0.562596	0.923804	0.28073	N	0.695	0.17993	N	1.91	0.23283	T	-0.29	0.11728	N	0.183	0.19861	-1.0296	0.20583	T	0.033	0.14247	T	10	0.024293453	0.00663	T	0.049588	0.63876	D	0.087	0.25287	.	.	0.0611884634855	0.05136	0.3288284102390065	0.32795	0.352414306319	0.37077	0.808484196663	0.83260	D	0.004623	0.04028	T	-0.401887	0.02250	T	-0.436789	0.29169	T	0.066443820513	0.08142	T	0.618838	0.23746	T	0.072459474	0.16121	0.06057784	0.11559	0.072459474	0.16121	0.06057784	0.11559	-2.956	0.09715	T	.	.	0.132	0.28464	B	.	.	3.942346	0.57693	23.9	0.9806585196753741	0.37983	0.45703	0.27597	N	AEFDGBCI	0.118768	0.23210	N	-0.356259185654908	0.27043	1.480623	-0.1654460694074	0.32818	1.870908	0.996118606479007	0.34533	0.696267	0.57585	0	0.610034	0.51514	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	4.64	4.64	0.57399	2.221000	0.42559	7.727000	0.67598	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8016:0.0:0.1984:0.0	5.264	0.14901	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003571	0.000000	0.004087	0.008824	0.050000	0.000000	0.003145	0.000000	0.02632	613.33	40	chr20	37944140	.	A	G	613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.115;DP=738;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.9;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr20	38012364	38012364	A	C	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.T1453G:p.F485V,TTI1:NM_014657:exon3:c.T1453G:p.F485V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0266897941991	.	.	8.248e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761042967	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.619e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.299	0.14546	T	0.016	0.60972	D	0.264	0.31602	B	0.09	0.29851	B	0.000001	0.84330	D	0.095984	0.999682	0.48270	D	2.655	0.77738	M	-0.15	0.65192	T	-1.2	0.30555	N	0.679	0.70351	-0.8755	0.50112	T	0.193	0.54579	T	10	0.41623878	0.56560	T	0.02669	0.49576	D	0.263	0.57612	0.438	0.49157	0.630240563733	0.62722	0.46492882454608675	0.46411	0.30347720499	0.32673	0.515486121178	0.40991	T	0.024092	0.18267	T	0.251427	0.78736	D	0.138867	0.79470	D	0.313663214445114	0.25563	T	0.768923	0.39853	T	0.10135886	0.23942	0.097323395	0.23160	0.10135886	0.23942	0.097323395	0.23159	-6.167	0.47655	T	.	.	0.151	0.34205	B	.;.;.	.;.;.	3.250803	0.44415	21.9	0.98535554781869505	0.42645	0.99273	0.93780	D	AEFBI	0.708227	0.66270	D	0.0752829794684799	0.45310	2.789799	0.192147376811179	0.49416	3.145037	0.997561948403512	0.35763	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.578000	0.60640	7.926000	0.74773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9166:0.0:0.0834:0.0	8.775	0.33917	745	0.52414	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1993.33	36	chr20	38012364	.	A	C	1993.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.687;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	18	0	1	0
chr20	38012468	38012468	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G1349A:p.R450H,TTI1:NM_014657:exon3:c.G1349A:p.R450H	.	435	1073	13	1	0	15	0.00694123	.	.	.	2824398	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	.	0.0071	0.00319489	0.0055	0.0020	0.0064	0.0006	0.0011	0.0080	0.0077	0.0013	0.0057955	896	154602	rs36059660	0.0076	0.0076	0.0076	0.0076	0.0091	0.0075	0.0074	0.0089	0.0089	0.0016	0.0063	0.0019	0.0003	0.0009	0.0085	0.0091	0.0063	0.0016	0.0059	0.0059	0.0061	0.0058	0.0093	0.0056	0.0055	0.0086	0.0083	0.0019	0.0175	0.0093	0.0012	0.0004	0.0008	0.0170	0.0092	0.0076	0.0010	0.315	0.13789	T	0.174	0.30045	T	0.019	0.17989	B	0.006	0.12133	B	0.011275	0.29595	N	0.429435	1	0.08975	N	2.48	0.72069	M	-0.21	0.66294	T	-0.89	0.24026	N	0.073	0.06190	-0.9215	0.45348	T	0.119	0.41604	T	10	0.0059761107	0.00134	T	.	.	.	0.038	0.09825	.	.	0.300110245524	0.29617	0.19645467196528332	0.19562	0.178549001201	0.20092	0.213106051087	0.00950	T	0.019252	0.15372	T	-0.527658	0.00397	T	-0.521325	0.20160	T	0.00789010949298266	0.00093	T	0.622038	0.23930	T	0.01633481	0.00191	0.02153968	0.00202	0.020792885	0.00651	0.02153968	0.00202	-3.537	0.16954	T	.	.	0.070	0.03811	B	.;.;.	.;.;.	1.151102	0.15394	11.82	0.96447174790494095	0.29851	0.03375	0.08476	N	AEFBI	0.042708	0.06661	N	-0.782322144524437	0.13771	0.6808263	-0.795495034366477	0.14606	0.764001	0.0886531951870591	0.16065	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	1.52	0.22158	0.170000	0.16476	1.104000	0.24096	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1277:0.6307:0.0:0.2417	5.928	0.18360	745	0.52414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.010101	0.006793	0.000000	0.000000	0.017241	0.006098	0.000000	0.02632	2321.33	36	chr20	38012468	.	C	T	2321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=828;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.3;SOR=0.591	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2335,0,2245	18	0	1	0
chr20	38213153	38213156	GGGG	-	exonic	KIAA1755	.	frameshift deletion	KIAA1755:NM_001348708:exon12:c.2442_2445del:p.P815Gfs*38,KIAA1755:NM_001029864:exon14:c.3489_3492del:p.P1164Gfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773746541	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	8.995e-07	0	0.0002	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2427.29	41	chr20	38213152	.	TGGGG	T	2427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.813;DP=820;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.28;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,109,1312:.	18	0	1	0
chr20	38213157	38213157	-	AA	exonic	KIAA1755	.	frameshift insertion	KIAA1755:NM_001348708:exon12:c.2440_2441insTT:p.P814Lfs*41,KIAA1755:NM_001029864:exon14:c.3487_3488insTT:p.P1163Lfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747113270	1.3e-05	1.3e-05	1.225e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	8.994e-07	0	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2427.29	41	chr20	38213157	.	G	GAA	2427.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.045;DP=821;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-0.493;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,109,1312:.	18	0	1	0
chr20	38217465	38217465	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001348708:exon11:c.C1642T:p.R548C,KIAA1755:NM_001029864:exon13:c.C2689T:p.R897C	.	.	.	.	.	.	.	.	.	.	.	3455712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0112888287372	7.7e-05	.	2.796e-05	0.0002	0	0	0	2.56e-05	0	0	1.94e-05	3	154602	rs140768307	1.857e-05	1.984e-05	2.598e-05	1.107e-05	0.0004	1.272e-05	1.09e-05	0.0002	0.0002	0.0004	2.271e-05	0	2.547e-05	0	0	9.021e-06	3.329e-05	0	0.0001	0.0001	0.0001	0.0002	0.0005	9.747e-05	8.26e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0	0.041	0.41915	D	0.002	0.79402	D	0.225	0.30426	B	0.028	0.21332	B	0.129139	0.18706	N	0.454684	0.995305	0.42632	D	2.175	0.60977	M	3.19	0.35219	T	-3.22	0.75935	D	0.383	0.42443	-1.0020	0.29342	T	0.079	0.31526	T	10	0.15881857	0.29856	T	0.011289	0.28764	T	0.095	0.27398	.	.	0.277730125212	0.27379	0.26403149292363	0.26316	0.0557504259464	0.06166	0.488211542368	0.37191	T	0.112301	0.42846	T	-0.385966	0.02856	T	-0.438156	0.29014	T	0.165605172514915	0.18276	T	0.839916	0.51465	T	0.12089516	0.28439	0.1350092	0.32337	0.12089516	0.28439	0.1350092	0.32336	-6.556	0.50716	T	.	.	0.184	0.39848	B	.;.	.;.	3.978405	0.58465	24.0	0.99524440938759473	0.69469	0.51741	0.28967	D	AEFDGBCI	0.308126	0.41481	N	-0.0301118032804249	0.40495	2.405846	0.0189871787626592	0.40597	2.425364	0.999999879730767	0.74766	0.600919	0.35232	0	0.59043	0.45803	0	0.478664	0.07449	1	0.620204	0.46100	0	.	.	4.59	2.39	0.28492	1.473000	0.34995	4.075000	0.41695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1269:0.0:0.6317:0.2414	4.197	0.09906	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	100.33	33	chr20	38217465	.	G	A	100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.867;DP=628;ExcessHet=0;FS=20.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=0.33;SOR=4.479	GT:AD:DP:GQ:PL	0/0:34,0:34:84:0,84,1260	18	0	1	0
chr20	38231254	38231254	A	C	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon5:c.T1819G:p.C607G,KIAA1755:NM_001348708:exon5:c.T976G:p.C326G	.	409	1107	6	0	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.0408787840789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000140	0.49741	D	0.000000	0.971819	0.38899	D	2.955	0.85029	M	2.05	0.20664	T	-8.5	0.97298	D	0.891	0.90363	-0.7266	0.59135	T	0.162	0.49831	T	10	0.8349875	0.82656	D	0.040879	0.59619	D	0.275	0.59130	0.524	0.62818	0.402899589544	0.39908	0.730887077985616	0.73033	0.299127988251	0.32281	0.515427708626	0.40983	T	0.119726	0.44146	T	0.174004	0.71491	D	0.0121685	0.71123	D	0.998488068580627	0.94283	D	0.726327	0.34071	T	0.82441294	0.85519	0.83219886	0.90328	0.82441294	0.85520	0.83219886	0.90329	-7.692	0.58952	D	.	.	0.319	0.59893	B	.;.	.;.	3.776424	0.54268	23.5	0.97917876447912411	0.36864	0.72311	0.35398	D	AEFDBCI	0.617610	0.60373	D	0.601484674387906	0.73267	5.938547	0.492755412484853	0.67508	5.093536	0.99999399042116	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.550183	0.17644	0	.	.	5.15	5.15	0.70287	5.710000	0.68045	7.757000	0.68234	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	1.0:0.0:0.0:0.0	13.945	0.63589	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	90	chr20	38231254	.	A	C	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=722;ExcessHet=0;FS=2.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=-0.19;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	18	0	1	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I,KIAA1755:NM_001348708:exon4:c.C728T:p.T243I	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.000000	0.023098	0.029240	0.050000	0.017241	0.024390	0.007576	0.05263	2804.81	35	chr20	38239704	.	G	A	2804.81	.	AC=2;AF=0.053;AN=38;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.49;SOR=0.878	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	1	0	0
chr20	38304245	38304245	G	A	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon1:c.G22A:p.A8T	.	406	1102	14	0	0	14	0.00631199	.	.	.	716963	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0081	0.00698882	0.0069	0.0054	0.0038	0.0005	0.0011	0.0084	0.0089	0.0101	0.0069857	1080	154602	rs5743497	0.0077	0.0077	0.0076	0.0079	0.0102	0.0076	0.0076	0.0097	0.0094	0.0045	0.0042	0.0216	0.0007	0.0013	0.0092	0.0080	0.0088	0.0102	0.0063	0.0063	0.0070	0.0056	0.0097	0.0060	0.0058	0.0075	0.0072	0.0039	0.0011	0.0060	0.0222	0.0017	0.0008	0.0102	0.0080	0.0071	0.0097	0.545	0.06691	T	0.537	0.09863	T	0.062	0.23277	B	0.003	0.08700	B	0.061062	0.02140	N	2.211740	1	0.08975	N	0.55	0.14455	N	3.39	0.05710	T	0.0	0.07008	N	0.076	0.05037	-1.0360	0.18544	T	0.016	0.06377	T	10	0.002578646	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.1504349732716615	0.14965	0.0492439977467	0.05390	0.307105183601	0.11470	T	0.00367	0.03081	T	-0.579439	0.00194	T	-0.597566	0.13015	T	0.00162650966282225	0.00016	T	0.327667	0.06803	T	0.019394329	0.00469	0.036609415	0.03143	0.019394329	0.00469	0.036609415	0.03142	-4.186	0.26548	T	.	.	0.077	0.06571	B	.	.	-0.762796	0.01182	0.057	0.83290036584568072	0.14644	0.01710	0.05428	N	ALL	0.023529	0.01325	N	-1.59225000752572	0.01303	0.05676632	-1.6906482049565	0.01179	0.05306746	0.999999999946618	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	3.16	-5.03	0.02751	-0.692000	0.05228	-1.127000	0.06250	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6495:0.0:0.3505:0.0	9.680	0.39230	857	0.34089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013595	0.005051	0.027174	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	793.33	63	chr20	38304245	.	G	A	793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1059;ExcessHet=0;FS=1.978;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.145;SOR=0.48	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	0	1	0
chr20	38323898	38323898	A	G	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon8:c.A785G:p.N262S	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00170310171122	0.0022	0.00239617	0.0017	0.0026	0.0009	0	0.0029	0.0016	0.0022	0.0024	0.0016365	253	154602	rs139584810	0.0015	0.0015	0.0015	0.0016	0.0043	0.0015	0.0014	0.0030	0.0026	0.0031	0.0009	0.0032	0	0.0048	0.0043	0.0012	0.0021	0.0030	0.0021	0.0022	0.0021	0.0022	0.0033	0.0020	0.0019	0.0029	0.0027	0.0033	0	0.0012	0.0023	0	0.0048	0.0034	0.0014	0.0024	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.029538	0.01704	N	2.012320	1	0.08975	N	-2.63	0.00039	N	3.26	0.06681	T	1.17	0.01121	N	0.054	0.02559	-0.9678	0.37652	T	0.004	0.01330	T	10	0.0034344196	0.00060	T	0.001703	0.02830	T	0.021	0.04004	.	.	0.139678290688	0.13603	0.08981823969658775	0.08914	0.0426833663064	0.04603	0.276472866535	0.07006	T	0.004472	0.03877	T	-0.766038	0.00014	T	-0.876815	0.00681	T	0.00544990994680958	0.00059	T	0.517648	0.16858	T	0.06499008	0.13846	0.035359193	0.02772	0.06499008	0.13845	0.035359193	0.02772	-2.254	0.04310	T	.	.	0.063	0.01512	B	.;.;.	.;.;.	-0.575479	0.01640	0.114	0.35810526494828748	0.02268	0.00658	0.02853	N	AEFBI	0.029231	0.02722	N	-2.10126722493207	0.00127	0.005453186	-2.07569084966907	0.00210	0.009270028	0.811745873417657	0.24368	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	-7.39	0.01257	-0.054000	0.11783	0.524000	0.19189	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3237:0.3327:0.163:0.1806	1.200	0.01767	833	0.38804	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.005051	0.005435	0.005848	0.000000	0.008621	0.009146	0.011364	0.02632	1953.33	33	chr20	38323898	.	A	G	1953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.585;DP=777;ExcessHet=0;FS=2.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.166;SOR=0.992	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1472	18	0	1	0
chr20	38354288	38354288	C	A	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C373A:p.L125I	.	423	1089	10	0	0	10	0.00457038	.	.	.	705476	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0022	0.00658946	0.0065	0.0005	0.0408	0	0.0057	0.0036	0.0068	0.0007	0.0062095	960	154602	rs2232585	0.0038	0.0038	0.0041	0.0035	0.0403	0.0037	0.0037	0.0388	0.0381	0.0004	0.0403	0.0053	0	0.0072	0.0121	0.0025	0.0045	0.0006	0.0050	0.0050	0.0045	0.0054	0.0301	0.0047	0.0045	0.0279	0.0270	0.0006	0	0.0301	0.0063	0	0.0061	0.0068	0.0024	0.0066	0.0006	0.231	0.18246	T	0.176	0.29843	T	0.121	0.26708	B	0.139	0.33484	B	0.041478	0.23946	N	0.278627	1	0.08975	N	2.155	0.60227	M	3.28	0.06523	T	-0.28	0.11547	N	0.357	0.39861	-1.0342	0.19109	T	0.009	0.03140	T	10	0.0025353432	0.00038	T	.	.	.	0.104	0.29647	.	.	0.165133752707	0.16062	0.24094005708314123	0.24008	0.360181560162	0.37701	0.417621672153	0.27510	T	0.039495	0.25209	T	-0.499113	0.00578	T	-0.460442	0.26552	T	0.0115454771060379	0.00174	T	0.530647	0.17608	T	0.21520232	0.43947	0.18266867	0.41209	0.21520232	0.43947	0.18266867	0.41208	-6.334	0.48991	T	.	.	0.110	0.21125	B	.	.	0.656481	0.10250	6.985	0.95388182246364173	0.26823	0.04045	0.09488	N	AEFDBI	0.452601	0.50608	N	-0.640038501448112	0.17751	0.9160617	-0.719753782831051	0.16469	0.8713751	0.98745487603267	0.31269	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	4.77	2.83	0.32150	0.927000	0.28418	-1.371000	0.05598	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.307000	0.24666	0.0:0.8034:0.0:0.1966	7.407	0.26168	794	0.45591	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.006793	0.014620	0.050000	0.017241	0.009146	0.007576	0.02632	2099.33	33	chr20	38354288	.	C	A	2099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=805;ExcessHet=0;FS=8.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.003;SOR=1.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	18	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	76.39	34	chr20	38497424	.	A	G	76.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.571;DP=1129;ExcessHet=0;FS=174.148;InbreedingCoeff=-0.0306;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.59;SOR=9.673	GT:AD:DP:GQ:PL	0/0:89,26:115:10:0,10,1692	18	0	1	0
chr20	38521530	38521530	G	A	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon10:c.G1451A:p.R484Q,RALGAPB:NM_001282918:exon10:c.G1451A:p.R484Q,RALGAPB:NM_020336:exon10:c.G1451A:p.R484Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.00581020271807	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs6100055	1.026e-05	1.094e-05	1.089e-05	9.626e-06	2.52e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	2.52e-05	0	0	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.122	0.40267	T	0.997	0.70673	D	0.964	0.71005	D	0.000000	0.84330	D	0.049758	1	0.81001	D	1.61	0.41143	L	.	.	.	-0.95	0.25332	N	0.641	0.74918	-0.5751	0.65811	T	0.381	0.73759	T	9	0.37909487	0.54058	T	0.00581	0.15101	T	0.319	0.64112	0.254	0.19378	0.448877186464	0.44507	0.6608265545645705	0.66019	0.968065256512	0.73262	0.593677639961	0.52013	T	0.050778	0.28692	T	0.255138	0.79078	D	0.128711	0.78807	D	0.718551756683899	0.41626	D	0.982235	0.93989	D	0.21713679	0.44190	0.18270262	0.41213	0.21713679	0.44190	0.18270262	0.41213	-8.87	0.66856	D	.	.	0.274	0.51695	B	.;.;.;.	.;.;.;.	5.146194	0.86174	28.8	0.99775684827039812	0.86346	0.99772	0.99355	D	AEFGBI	0.868297	0.78837	D	0.746714324832161	0.82689	7.825309	0.771522728484322	0.87752	9.332526	0.999999999999819	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	9.532000	0.97122	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.031	0.97535	832	0.38914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1006.33	36	chr20	38521530	.	G	A	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=698;ExcessHet=0;FS=2.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.209;SOR=1.005	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr20	38639281	38639281	G	A	exonic	ARHGAP40	.	nonsynonymous SNV	ARHGAP40:NM_001164431:exon9:c.G1171A:p.E391K	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0149847703148	0.0015	0.00139776	0.0020	0.0005	0	0	0.0006	0.0039	0.0041	0.0009	0.0005886	91	154602	rs147854857	0.0019	0.0015	0.0020	0.0018	0.0032	0.0019	0.0018	0.0019	0.0018	0.0004	0.0016	0.0101	7.786e-05	0.0002	0.0032	0.0019	0.0023	0.0013	0.0013	0.0013	0.0012	0.0013	0.0019	0.0011	0.0011	0.0016	0.0015	0.0004	0	0.0009	0.0075	0	9.413e-05	0	0.0019	0.0024	0.0008	1.0	0.00964	T	0.648	0.06788	T	.	.	.	.	.	.	0.005887	0.32428	N	0.318071	0.951017	0.26485	N	0.815	0.20815	L	2.15	0.19311	T	-0.31	0.12099	N	0.109	0.09490	-1.0252	0.22017	T	0.056	0.23715	T	8	0.007014841	0.00160	T	0.014985	0.35458	T	0.071	0.20720	.	.	0.0806252709748	0.07271	0.479253248029303	0.47845	.	.	0.393268376589	0.24129	T	0.006535	0.05961	T	-0.518645	0.00448	T	-0.52425	0.19865	T	0.0128489102695657	0.00220	T	0.768323	0.39714	T	0.07867284	0.17928	0.07078924	0.15081	0.07867284	0.17928	0.07078924	0.15081	-5.343	0.40366	T	.	.	0.074	0.05188	B	.	.	2.273415	0.29059	18.00	0.37230053959813864	0.02441	0.77020	0.37825	D	AEFBI	0.134647	0.25473	N	-0.243363955816849	0.31368	1.758216	-0.279178168267543	0.28784	1.607646	0.0228024895667815	0.13459	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.55	1.31	0.20837	2.702000	0.46770	1.425000	0.26398	0.676000	0.76740	0.998000	0.41325	0.686000	0.26148	0.987000	0.62547	0.1984:0.1643:0.6373:0.0	5.532	0.16281	899	0.25060	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1620.33	37	chr20	38639281	.	G	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.331;DP=771;ExcessHet=0;FS=4.426;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.309;SOR=0.445	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1634,0,1350	18	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:29,14:43:76:76,0,412	13	0	5	1
chr20	41174299	41174299	G	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon31:c.G3821A:p.S1274N,PLCG1:NM_182811:exon31:c.G3818A:p.S1273N	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00683720806851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	1.361e-06	8.254e-06	0.0003	1.99e-06	1.28e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.07772	T	0.494	0.11407	T	0.0	0.02946	B	0.001	0.04355	B	0.034266	0.24791	N	0.462898	1	0.08975	N	0.205	0.09354	N	0.95	0.43279	T	-0.52	0.16187	N	0.165	0.17416	-1.0682	0.09813	T	0.060	0.25163	T	10	0.04742056	0.04058	T	0.006837	0.18093	T	0.071	0.20720	0.283	0.23961	0.281547015583	0.27767	0.39954528870464223	0.39869	.	.	0.411311089993	0.26638	T	0.351258	0.71885	T	-0.352963	0.04544	T	-0.744784	0.03693	T	0.0576815865933895	0.06799	T	0.714229	0.33404	T	0.04947946	0.08792	0.056406222	0.10074	0.04947946	0.08792	0.056406222	0.10073	-4.629	0.32534	T	.	.	0.078	0.07036	B	.;.	.;.	1.945838	0.24712	16.50	0.92073120669736264	0.21420	0.52847	0.29229	D	AEFGBCI	0.160155	0.28605	N	-0.478707249764883	0.22780	1.21876	-0.345203749077792	0.26658	1.473878	0.998374982866492	0.36850	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.35	1.98	0.25351	1.384000	0.34003	2.328000	0.32177	0.676000	0.76740	0.153000	0.23698	0.927000	0.28453	0.986000	0.61781	0.1367:0.0:0.4793:0.384	5.803	0.17687	943	0.12886	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2592.33	172	chr20	41174299	.	G	A	2592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=813;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.888;SOR=0.641	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1473	18	0	1	0
chr20	41348658	41348658	-	G	exonic	LPIN3	.	frameshift insertion	LPIN3:NM_001301860:exon4:c.329dupG:p.L113Sfs*15,LPIN3:NM_022896:exon4:c.329dupG:p.L113Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0003	9.982e-05	0	0	0	0.0004	0	0.0003	3.84e-05	1	26028	rs756955559	0.0001	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0002	0	0	1.875e-05	0.0010	0.0001	0.0001	0.0003	7.892e-05	7.878e-05	6.433e-05	9.417e-05	0.0002	4.5e-05	3.515e-05	4.771e-05	3.343e-05	7.227e-05	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001022	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	732.29	35	chr20	41348658	.	T	TG	732.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-2.327;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	18	0	1	0
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.022727	0.07895	6236.79	73	chr20	41362193	.	C	T	6236.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.93;DP=1211;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.886;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	16	0	3	0
chr20	41362382	41362382	T	A	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.A1187T:p.D396V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0256504403113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.051	0.47828	T	0.883	0.48537	P	0.422	0.45143	B	0.003488	0.34874	N	0.288238	1	0.81001	D	2.075	0.57047	M	2.46	0.14907	T	-3.81	0.71882	D	0.466	0.50237	-1.1228	0.02162	T	0.056	0.23639	T	9	0.36857912	0.53296	T	0.02565	0.48608	D	0.180	0.45073	0.285	0.24280	0.549545986626	0.54612	0.44539149990609533	0.44457	0.659582380596	0.58814	0.39574688673	0.24477	T	0.142353	0.47789	T	-0.0677732	0.41683	T	-0.335128	0.40895	T	0.977657556533813	0.71947	D	0.643636	0.25529	T	0.31949684	0.54598	0.23380812	0.48580	0.31949684	0.54598	0.23380812	0.48579	-5.163	0.38563	T	.	.	0.142	0.31228	B	.	.	3.735737	0.53465	23.4	0.99085344903177741	0.52075	0.97855	0.77635	D	AEFDBCIJ	0.871913	0.79353	D	0.409477650147544	0.61941	4.402433	0.440295086173821	0.64096	4.657111	0.999999992188666	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	6.955000	0.75805	6.151000	0.54196	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:0.0:1.0	14.955	0.70757	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1657.33	73	chr20	41362382	.	T	A	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.658;DP=876;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.899;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	18	0	1	0
chr20	41412188	41412188	C	T	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon36:c.G7207A:p.G2403R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0156994303729	.	0.000399361	0.0002	0	0	0.0017	0	7.493e-05	0	6.057e-05	0.0001682	26	154602	rs559255385	4.31e-05	4.309e-05	4.628e-05	3.988e-05	0.0005	3.442e-05	3.129e-05	0.0003	0.0003	2.987e-05	4.472e-05	0	0.0005	1.872e-05	0.0002	2.248e-05	0.0002	2.319e-05	3.938e-05	3.937e-05	1.284e-05	6.711e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.856	0.47190	P	0.223	0.37929	B	0.008488	0.30815	N	0.231176	0.999977	0.53665	D	1.975	0.53506	M	0.7	0.51474	T	-6.12	0.90060	D	0.725	0.72656	-0.8832	0.49505	T	0.117	0.41165	T	10	0.21770427	0.38391	T	0.015699	0.36577	T	0.340	0.66202	0.598	0.72862	0.817288709795	0.81556	0.5810159046359168	0.58030	0.373155265943	0.38788	0.659722566605	0.61370	T	0.698133	0.91283	D	-0.0745841	0.40591	T	0.074537	0.75213	D	0.261900437384309	0.23398	T	0.942406	0.78384	D	0.62148833	0.73843	0.619446	0.77836	0.62148833	0.73844	0.619446	0.77837	-3.685	0.19097	T	.	.	0.399	0.59539	A	.	.	4.329096	0.66320	24.9	0.99935760443597199	0.99579	0.95904	0.66656	D	AEFDBCI	0.704062	0.65990	D	0.340306125815627	0.58228	3.994049	0.388274368401819	0.60842	4.276413	0.999999999986862	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	4.31	0.50718	5.650000	0.67618	4.018000	0.41224	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.9268:0.0:0.0732	13.889	0.63226	943	0.12886	BRK domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	887.33	34	chr20	41412188	.	C	T	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.43;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	18	0	1	0
chr20	41416769	41416769	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon33:c.A6305G:p.D2102G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.337114537755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	6.84e-07	0	1.396e-06	9.077e-07	0	0	.	.	0	0	0	0	0	0	9.077e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.976	0.58310	D	0.612	0.51145	P	0.000006	0.62929	D	0.000000	0.999995	0.58761	D	2.85	0.82803	M	-3.17	0.93054	D	-5.6	0.86608	D	0.882	0.88027	0.838	0.94881	D	0.829	0.94245	D	10	0.94815457	0.94145	D	0.337115	0.91913	D	0.942	0.98780	0.779	0.90388	0.955942297982	0.95547	0.7923815222132432	0.79190	0.753774766395	0.63915	0.697189450264	0.66738	T	0.707107	0.91615	D	0.494793	0.94145	D	0.472959	0.94068	D	0.99029666185379	0.80512	D	0.972203	0.89922	D	0.80245364	0.84063	0.8030114	0.88459	0.80245364	0.84064	0.8030114	0.88460	-9.486	0.70772	D	.	.	0.879	0.81404	P	.	.	5.104084	0.85296	28.6	0.99887021260468778	0.96204	0.99365	0.95074	D	AEFDBHI	0.870078	0.79090	D	0.72194309665352	0.81072	7.437139	0.730459916063227	0.84693	8.36323	0.999999918219469	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	8.017000	0.88732	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2048.33	36	chr20	41416769	.	T	C	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.806;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.546;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1292	18	0	1	0
chr20	41420810	41420810	T	A	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon31:c.A5825T:p.H1942L	.	416	1042	62	2	0	66	0.0306977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0048	0.00259585	0.0051	0.0008	0.0073	0	0.0006	0.0067	0.0143	0.0041	0.0048188	745	154602	rs140143834	0.0048	0.0048	0.0047	0.0049	0.0472	0.0047	0.0046	0.0426	0.0408	0.0022	0.0070	0.0213	2.519e-05	0.0007	0.0472	0.0044	0.0072	0.0040	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0094	0.0089	0.0013	0.0011	0.0108	0.0233	0	0.0003	0.0476	0.0048	0.0076	0.0046	0.011	0.55530	D	0.165	0.30926	T	0.001	0.07471	B	0.002	0.06944	B	0.002783	0.35935	N	0.195101	0.614582	0.30831	N	1.995	0.54099	M	-1.97	0.85173	D	-1.3	0.32590	N	0.592	0.61172	-0.5537	0.66646	T	0.344	0.70948	T	10	0.004806787	0.00102	T	.	.	.	0.257	0.56827	.	.	0.689785631623	0.68712	0.3750919250978012	0.37423	0.189597863758	0.21281	0.446506142616	0.31466	T	0.084022	0.37186	T	-0.282742	0.10380	T	-0.176165	0.56878	T	0.0114341680343454	0.00171	T	0.763224	0.38939	T	0.094280444	0.22162	0.08424599	0.19367	0.094280444	0.22162	0.08424599	0.19367	-2.681	0.07144	T	.	.	0.100	0.17275	B	.	.	2.888150	0.38240	20.7	0.95014432481411215	0.25991	0.90439	0.51616	D	AEFBI	0.097281	0.19624	N	-0.282613491382424	0.29820	1.657095	-0.144698206204059	0.33612	1.924544	0.35311860280928	0.19703	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.86	3.56	0.39892	0.728000	0.25682	4.390000	0.43210	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.914000	0.44937	0.1166:0.0:0.1688:0.7146	8.132	0.30193	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037764	0.040404	0.054348	0.040936	0.000000	0.051724	0.033537	0.003788	0.05263	3315.83	61	chr20	41420810	.	T	A	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=981;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.572;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	17	0	2	0
chr20	43460714	43460714	G	A	exonic	SRSF6	.	nonsynonymous SNV	SRSF6:NM_006275:exon6:c.G686A:p.R229Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3611705	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00997992054504	.	0.000199681	8.261e-06	0	0	0	0	0	0	6.093e-05	1.29e-05	2	154602	rs556237742	4.86e-05	4.857e-05	4.494e-05	5.23e-05	0.0002	3.929e-05	3.607e-05	6.514e-05	4.759e-05	2.99e-05	0	0	0.0002	0	0	4.859e-05	0	0.0001	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0004	1.26e-05	7.98e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.164	0.23360	T	0.091	0.40110	T	0.997	0.70673	D	0.968	0.71741	D	0.000002	0.62929	D	0.000000	0.999933	0.51612	D	1.98	0.53716	M	2.34	0.16351	T	-2.02	0.46503	N	0.43	0.46928	-1.1807	0.00359	T	0.097	0.36315	T	10	0.24261454	0.41460	T	0.00998	0.25968	T	0.143	0.38195	0.319	0.29741	0.291402777868	0.28757	0.5004949447496457	0.49970	0.0884094023239	0.09995	0.685474514961	0.65054	T	0.224739	0.58927	T	-0.199177	0.20923	T	-0.342352	0.40078	T	0.47170078754425	0.31593	T	0.853215	0.53849	D	0.20180833	0.42204	0.13838086	0.33049	0.20180833	0.42204	0.13838086	0.33048	-7.524	0.57779	D	.	.	0.149	0.33039	B	.	.	4.210199	0.63596	24.6	0.99629026857800485	0.75898	0.97169	0.73096	D	AEFDGBCI	0.747993	0.68988	D	0.615153933064941	0.74132	6.081053	0.640388370796669	0.77897	6.768606	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.97	5.97	0.96935	7.489000	0.80266	11.823000	0.97298	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.204	0.93708	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	35	chr20	43460714	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=808;ExcessHet=0;FS=2.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-0.918;QD=13.91;ReadPosRankSum=-0.717;SOR=0.903	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	18	0	1	0
chr20	43540973	43540973	C	G	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_015478:exon19:c.C2164G:p.L722V,L3MBTL1:NM_001377303:exon22:c.C2434G:p.L812V,L3MBTL1:NM_032107:exon22:c.C2368G:p.L790V	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0053	0.0345447	0.0186	0.0150	0.0020	0.0068	0	7.519e-05	0.0078	0.1212	0.0162352	2510	154602	rs61736753	0.0092	0.0092	0.0062	0.0123	0.1141	0.0091	0.0090	0.1123	0.1115	0.0164	0.0009	0	0.0581	0	0.0040	9.892e-05	0.0097	0.1141	0.0086	0.0086	0.0067	0.0105	0.1180	0.0082	0.0080	0.1100	0.1068	0.0146	0	0.0016	0	0.0180	0	0	8.82e-05	0.0033	0.1180	0.157	0.23997	T	0.043	0.50226	D	0.906	0.49993	P	0.395	0.44317	B	0.281118	0.14943	N	0.551423	1	0.08975	N	.	.	.	2.16	0.19588	T	-1.58	0.38151	N	0.025	0.00485	-1.0696	0.09501	T	0.015	0.06090	T	10	0.0024258196	0.00036	T	.	.	.	0.029	0.06676	.	.	.	.	0.1650429698965462	0.16424	0.17885719924	0.20123	0.209039747715	0.00771	T	.	.	.	-0.719661	0.00028	T	-0.709803	0.05305	T	0.0103036352121491	0.00140	T	0.40106	0.10202	T	0.042931907	0.06600	0.048359677	0.07165	0.042931907	0.06599	0.048359677	0.07165	-3.75	0.20089	T	.	.	0.054	0.00890	B	.;.;.	.;.;.	-0.123293	0.03505	0.661	0.91236377407246161	0.20493	0.06324	0.12321	N	AEFBI	0.053785	0.09723	N	-0.795908268010662	0.13417	0.6607638	-0.957688073837997	0.10744	0.5431497	0.00442892758213981	0.10550	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.34	0.308	0.15062	0.173000	0.16538	0.433000	0.18345	-0.817000	0.03001	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2159:0.5633:0.0:0.2209	3.097	0.05933	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.009567	0.000000	0.000000	0.005848	0.000000	0.017241	0.006098	0.034091	0.02632	1693.33	41	chr20	43540973	.	C	G	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.764;DP=857;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.246;SOR=0.542	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr20	43673807	43673807	G	A	exonic	MYBL2	.	nonsynonymous SNV	MYBL2:NM_001278610:exon2:c.G22A:p.E8K,MYBL2:NM_002466:exon2:c.G22A:p.E8K	.	417	1099	6	0	0	6	0.00272232	0.5815	0.438	.	2714013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.0191443877775	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447840943	1.343e-05	1.642e-05	1.397e-05	1.287e-05	0.0012	8.59e-06	6.92e-06	0.0006	0.0004	3.1e-05	0	0	0	0	0.0012	1.012e-05	0	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.014	0.63109	D	0.957	0.54824	D	0.122	0.32387	B	0.000007	0.62929	D	0.107484	0.999986	0.54805	D	2.005	0.54552	M	2.11	0.19860	T	-2.37	0.54702	N	0.389	0.43029	-1.0482	0.14903	T	0.055	0.23110	T	10	0.23704627	0.40798	T	0.019144	0.41421	T	0.248	0.55615	0.377	0.39156	0.344740032716	0.34089	0.37897486105921346	0.37812	1.79454408354	0.91555	0.884761571884	0.94593	D	0.735377	0.92626	D	-0.0508834	0.44313	T	-0.310867	0.43564	T	0.857327401638031	0.50809	D	0.844815	0.52285	T	0.37922418	0.59260	0.38573265	0.63483	0.37922418	0.59260	0.38573265	0.63483	-3.192	0.27697	T	.	.	0.303	0.64454	B	.;.	.;.	5.492752	0.91499	32	0.99684041135618018	0.79440	0.93628	0.58739	D	AEFDGBCI	0.665909	0.63456	D	0.178503084282476	0.50167	3.209437	0.203397629797594	0.50034	3.199892	0.99999999755597	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	7.804000	0.84553	9.579000	0.81025	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:1.0:0.0	17.054	0.86402	528	0.73785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	122	chr20	43673807	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.2;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.634;SOR=0.747	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr20	43702793	43702793	G	A	exonic	MYBL2	.	nonsynonymous SNV	MYBL2:NM_001278610:exon7:c.G1183A:p.A395T,MYBL2:NM_002466:exon8:c.G1255A:p.A419T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00379637737055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.644	0.07316	T	0.022	0.18677	B	0.01	0.14941	B	0.001018	0.40652	N	0.279063	0.891905	0.35971	D	-1.245	0.00777	N	2.53	0.14038	T	-0.61	0.18042	N	0.047	0.01911	-0.9934	0.31722	T	0.013	0.04843	T	10	0.04217893	0.02942	T	0.003796	0.08837	T	0.029	0.06676	0.284	0.24121	0.117191471859	0.11215	0.329660111865418	0.32879	0.265635106217	0.29118	0.476504296064	0.35576	T	0.119955	0.44186	T	-0.32935	0.06161	T	-0.710865	0.05250	T	0.421204596757889	0.29734	T	0.765223	0.40183	T	0.03325931	0.03508	0.043986235	0.05596	0.03325931	0.03508	0.043986235	0.05595	-3.225	0.13776	T	.	.	0.073	0.04640	B	.;.	.;.	2.660260	0.34655	19.69	0.98843815044169459	0.47169	0.77078	0.37859	D	AEFDGBCI	0.174247	0.30136	N	-0.556930206968242	0.20267	1.067151	-0.362393598084514	0.26129	1.441221	0.00122397220565416	0.08353	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.99	2.65	0.30588	1.743000	0.37883	4.812000	0.45049	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.905000	0.44082	0.4182:0.0:0.5818:0.0	4.802	0.12668	542	0.72843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2602.33	51	chr20	43702793	.	G	A	2602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.149;DP=840;ExcessHet=0;FS=2.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=2.61;SOR=0.511	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1298	18	0	1	0
chr20	44006673	44006673	G	A	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon3:c.G166A:p.G56S,TOX2:NM_001098797:exon3:c.G292A:p.G98S,TOX2:NM_001098798:exon3:c.G319A:p.G107S,TOX2:NM_032883:exon4:c.G166A:p.G56S	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00301271081974	0.0026	0.00179712	0.0024	0.0012	0.0002	0	0.0012	0.0035	0.0044	0.0024	0.0024321	376	154602	rs139380167	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0042	0.0008	0.0003	0.0009	0	0.0009	0.0026	0.0044	0.0035	0.0024	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0011	0.0274	0.0003	0.0009	0.0002	0.0011	0	0.0040	0.0009	0.0035	0.786	0.03235	T	0.741	0.04965	T	0.108	0.26116	B	0.013	0.16460	B	0.003103	0.35419	N	0.309579	0.869857	0.28683	N	-0.345	0.03330	N	1.05	0.39990	T	0.41	0.05035	N	0.221	0.26111	-1.0914	0.05303	T	0.027	0.11663	T	10	0.0060950518	0.00137	T	0.003013	0.06457	T	0.065	0.18881	.	.	0.209943299407	0.20609	0.366609849214609	0.36574	0.336715624653	0.35668	0.382082521915	0.22552	T	0.002832	0.02227	T	-0.45935	0.00992	T	-0.430682	0.29857	T	0.00857870038714218	0.00105	T	0.841416	0.52334	T	0.02855788	0.02212	0.041475408	0.04721	0.02855788	0.02211	0.041475408	0.04721	-3.144	0.11927	T	.	.	0.061	0.01143	B	.;.;.;.	.;.;.;.	1.255407	0.16525	12.60	0.93091309521907362	0.22715	0.63730	0.32181	D	AEFDGBHCI	0.165826	0.29235	N	-0.51199534030107	0.21690	1.153021	-0.320731566376458	0.27429	1.521993	0.999997080771435	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.24	1.59	0.22622	1.190000	0.31735	-0.378000	0.09560	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.5819:0.0:0.4181:0.0	5.850	0.17940	522	0.74218	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.007576	0.02632	3471.33	33	chr20	44006673	.	G	A	3471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.46;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1314	18	0	1	0
chr20	44160215	44160215	G	C	exonic	JPH2	.	nonsynonymous SNV	JPH2:NM_020433:exon2:c.C572G:p.P191R	Cardiomyopathy, hypertrophic, 17, Autosomal dominant	4	1502	14	2	0	18	0.00595632	.	.	.	198535	not_specified|not_provided|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	.	0.000199681	0.0028	0	0	0	.	0.0118	0	0.0014	0.00011	17	154602	rs554853074	0.0004	0.0004	0.0004	0.0005	0.0040	0.0004	0.0004	0.0025	0.0020	0	0.0008	0.0121	0	0	0.0040	0.0002	0.0011	0.0010	0.0005	0.0005	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	4.816e-05	0	0.0004	0.0115	0	0	0.0068	0.0003	0.0019	0.0019	0.519	0.07283	T	0.532	0.10034	T	0.497	0.37095	P	0.067	0.27542	B	0.056375	0.22566	U	0.401730	0.999984	0.18198	N	0.895	0.22405	L	0.22	0.59851	T	-0.5	0.15782	N	0.407	0.44761	-1.0122	0.26228	T	0.124	0.42694	T	10	0.00891152	0.00202	T	.	.	.	0.059	0.16972	.	.	0.799362901421	0.79748	0.27369640426997915	0.27282	.	.	0.842707931995	0.88507	D	0.049581	0.28347	T	-0.435857	0.01368	T	-0.514423	0.20862	T	0.0284015782500203	0.01747	T	0.39926	0.10144	T	0.03127433	0.02936	0.041065972	0.04583	0.03127433	0.02936	0.041065972	0.04583	-4.504	0.30941	T	.	.	0.135	0.29200	B	.	.	2.248725	0.28726	17.89	0.90244641486499277	0.19516	0.37702	0.25821	N	AEFGBI	0.109354	0.21723	N	-0.153429095177155	0.35087	2.011066	-0.0973098166122663	0.35501	2.05466	0.711306782819528	0.22823	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.34	3.34	0.37357	0.838000	0.27225	3.984000	0.40930	0.500000	0.22704	0.998000	0.41325	1.000000	0.68203	0.378000	0.26290	0.1985:0.0:0.8015:0.0	7.110	0.24564	566	0.70798	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	331.33	40	chr20	44160215	.	G	C	331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.15;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.294;SOR=0.569	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1226	18	0	1	0
chr20	44337324	44337324	G	A	exonic	R3HDML	.	nonsynonymous SNV	R3HDML:NM_178491:exon1:c.G167A:p.R56H	.	.	.	.	.	.	.	.	.	.	.	2336965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0139435713753	7.7e-05	0.000199681	4.131e-05	0	0	0	0.0002	3.01e-05	0	0.0001	5.17e-05	8	154602	rs138012908	3.762e-05	3.762e-05	3.539e-05	3.988e-05	0.0001	2.96e-05	2.656e-05	5.396e-05	4.042e-05	0	0	7.652e-05	0	3.746e-05	0	3.597e-05	3.311e-05	0.0001	5.909e-05	5.905e-05	5.139e-05	6.713e-05	0.0004	3.075e-05	2.208e-05	7.29e-05	3.029e-05	2.405e-05	0	0	0	0	9.418e-05	0	7.35e-05	0	0.0004	0.025	0.47320	D	0.003	0.76473	D	0.399	0.34817	B	0.045	0.24526	B	0.000022	0.55875	N	0.119276	0.999991	0.58761	D	2.415	0.69758	M	2.94	0.09728	T	-4.01	0.74193	D	0.232	0.26111	-1.1121	0.02895	T	0.032	0.13592	T	10	0.1039719	0.19143	T	0.013944	0.33715	T	0.106	0.30130	.	.	0.173771789658	0.16945	0.5758138412832643	0.57510	0.286609179392	0.31053	0.372097492218	0.21133	T	0.063198	0.32114	T	-0.305578	0.08143	T	-0.440049	0.28803	T	0.550636410713196	0.34501	D	0.740126	0.35895	T	0.22904554	0.45635	0.16600865	0.38375	0.22904554	0.45635	0.16600865	0.38374	-9.378	0.70097	D	.	.	0.146	0.32324	B	.	.	3.054273	0.40991	21.3	0.99796553888505413	0.88194	0.95473	0.64861	D	AEFDGBI	0.702776	0.65903	D	-0.0324339103479774	0.40391	2.397801	0.0146793998813882	0.40397	2.410106	0.999991483812437	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.18	4.23	0.49319	6.083000	0.70975	4.381000	0.43181	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0758:0.0:0.9242:0.0	13.466	0.60705	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1283.33	98	chr20	44337324	.	G	A	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.393;DP=1172;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.195;SOR=0.77	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr20	44429627	44429627	A	G	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon10:c.A1387G:p.I463V,HNF4A:NM_001030003:exon10:c.A1291G:p.I431V,HNF4A:NM_175914:exon10:c.A1321G:p.I441V,HNF4A:NM_178849:exon10:c.A1357G:p.I453V,HNF4A:NM_001258355:exon11:c.A1366G:p.I456V,HNF4A:NM_001287182:exon11:c.A1282G:p.I428V,HNF4A:NM_001287183:exon11:c.A1312G:p.I438V	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	0	1504	16	2	0	20	0.00660502	.	.	.	45009	Maturity_onset_diabetes_mellitus_in_young|not_specified|Monogenic_diabetes|Autosomal_dominant_polycystic_liver_disease|not_provided|Familial_hyperinsulinism|Maturity-onset_diabetes_of_the_young_type_1|Type_2_diabetes_mellitus|Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|MedGen:C3661900|MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.354	0.0400357000136	0.0003	.	0.0003	0	0.0007	0	0	0.0004	0.0011	0.0001	0.0002652	41	154602	rs147638455	0.0003	0.0003	0.0002	0.0003	0.0114	0.0002	0.0002	0.0092	0.0084	0.0003	0.0006	0.0007	0	0	0.0114	0.0002	0.0007	0.0003	0.0006	0.0006	0.0005	0.0008	0.0008	0.0005	0.0005	0.0003	0.0002	0	0.0582	0.0005	0.0009	0	0	0.0136	0.0003	0.0019	0.0008	0.018	0.53172	D	0.107	0.40747	T	0.225	0.30426	B	0.078	0.28627	B	0.760773	0.09625	N	0.891454	0.999999	0.58761	D	2.045	0.56016	M	-0.61	0.71779	T	-0.23	0.10656	N	0.54	0.76853	-0.6555	0.62473	T	0.317	0.68655	T	10	0.009395719	0.00212	T	0.040036	0.59150	D	0.354	0.67510	.	.	0.942077443982	0.94147	0.22013181744356555	0.21929	0.285152696463	0.30925	0.606351733208	0.53801	T	0.222491	0.70629	T	-0.0971621	0.36896	T	-0.00625752	0.69929	D	0.0827810381089443	0.10339	T	0.861714	0.55578	D	0.09375241	0.22027	0.10567461	0.25409	0.091336444	0.21399	0.1056317	0.25396	-3.058	0.14748	T	.	.	0.065	0.02765	B	.;.;.;.;.	.;.;.;.;.	2.503491	0.32318	19.01	0.99635814627792141	0.76326	0.94383	0.60991	D	AEFDBHCI	0.977155	0.99709	D	0.076654093246981	0.45376	2.795124	0.193130714253283	0.49470	3.149758	0.99999999998337	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	5.23	0.72570	7.000000	0.76045	7.973000	0.76046	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	1.0:0.0:0.0:0.0	15.264	0.73340	349	0.85513	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.010101	0.013587	0.032164	0.050000	0.008621	0.015244	0.011364	0.05263	1302.83	33	chr20	44429627	.	A	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.832;DP=743;ExcessHet=0.119;FS=2.826;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=2.11;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	17	0	2	0
chr20	44503956	44503956	C	T	exonic	SERINC3	.	nonsynonymous SNV	SERINC3:NM_006811:exon8:c.G914A:p.R305H,SERINC3:NM_198941:exon8:c.G914A:p.R305H	.	.	.	.	.	.	.	.	.	.	.	4056536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00438915012071	.	.	5.766e-05	0	0	0	0	1.498e-05	0	0.0004	4.53e-05	7	154602	rs774380356	2.42e-05	2.531e-05	2.062e-05	2.781e-05	0.0004	1.757e-05	1.555e-05	0.0003	0.0002	0	2.45e-05	0	0	0	0	2.709e-06	1.671e-05	0.0004	3.945e-05	3.941e-05	3.856e-05	4.039e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.602	0.05601	T	0.576	0.08624	T	0.001	0.07471	B	0.002	0.06944	B	0.096114	0.20092	N	0.508880	1	0.08975	N	-1.11	0.00959	N	1.4	0.33630	T	0.42	0.03352	N	0.151	0.15469	-1.0234	0.22606	T	0.029	0.12673	T	10	0.03250611	0.01404	T	0.004389	0.10718	T	0.046	0.12618	0.638	0.77470	0.043077524339	0.03247	0.3944236481932554	0.39357	0.096357886575	0.10875	0.235294193029	0.02383	T	0.002917	0.27199	T	-0.548391	0.00298	T	-0.676071	0.07225	T	0.0461434763774476	0.04810	T	0.669833	0.27843	T	0.01751174	0.00279	0.022350194	0.00261	0.01751174	0.00279	0.022350194	0.00261	-3.99	0.23654	T	.	.	0.056	0.00524	B	.;.;.	.;.;.	2.132639	0.27151	17.36	0.61051494442184695	0.06613	0.05158	0.10972	N	AEFDBI	0.067599	0.13297	N	-0.886963959521391	0.11152	0.5366298	-0.697304660737957	0.17027	0.9035604	0.992624792334589	0.32908	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.3	0.50540	1.962000	0.40066	1.839000	0.29174	-0.343000	0.05659	0.998000	0.41325	0.993000	0.31925	0.901000	0.43729	0.0:0.0779:0.1519:0.7702	6.792	0.22888	273	0.89298	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	550.33	34	chr20	44503956	.	C	T	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=663;ExcessHet=0;FS=6.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0;SOR=1.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	18	0	1	0
chr20	44727357	44727357	C	G	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon3:c.C556G:p.P186A	.	420	1077	24	1	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0012	0.00259585	0.0043	0.0003	0.0037	0	0.0003	0.0043	0.0061	0.0119	0.0020375	315	154602	rs142405609	0.0016	0.0017	0.0015	0.0018	0.0223	0.0016	0.0016	0.0191	0.0179	0.0005	0.0015	0.0240	2.67e-05	3.968e-05	0.0223	0.0008	0.0036	0.0057	0.0016	0.0016	0.0017	0.0015	0.0056	0.0014	0.0014	0.0039	0.0034	0.0002	0	0.0008	0.0239	0	0	0.0170	0.0014	0.0066	0.0056	0.0	0.91255	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.52	0.70717	T	-0.66	0.19085	N	0.176	0.18920	-0.8830	0.49521	T	0.189	0.54079	T	8	0.0037848055	0.00071	T	.	.	.	0.094	0.27141	.	.	0.310458034454	0.30648	.	.	.	.	.	.	.	.	.	.	-0.427082	0.01544	T	-0.383082	0.35361	T	0.0364771452821099	0.03063	T	0.232477	0.03154	T	.	.	.	.	.	.	.	.	-3.405	0.15123	T	.	.	0.073	0.04681	B	.	.	0.410365	0.07812	4.505	0.26924644678525839	0.01312	0.11559	0.16714	N	AEFDGBHCI	0.092008	0.18630	N	-0.752703406160392	0.14559	0.7263035	-0.906077549568754	0.11950	0.6119481	0.999999924464166	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	2.34	1.39	0.21325	0.453000	0.21523	0.646000	0.20366	0.389000	0.20474	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	0.0:0.8256:0.0:0.1744	5.050	0.13841	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	938.33	35	chr20	44727357	.	C	G	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.565;DP=713;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.913;SOR=0.47	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1197	18	0	1	0
chr20	45208254	45208257	AGAG	-	exonic	SEMG1	.	frameshift deletion	SEMG1:NM_003007:exon2:c.957_960del:p.E320Kfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274656701	2.745e-06	0.0009	2.731e-06	2.76e-06	9.017e-07	6.4e-07	4.3e-07	.	.	0	0	0.0001	0	0	0	9.017e-07	0	0	0.0005	0.0016	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0004	0.0005	0	0.0004	0.0012	0	0.0005	0	0.0005	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	119.29	84	chr20	45208253	.	AAGAG	A	119.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=985;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-6.041;QD=1.2;ReadPosRankSum=-4.206;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr20	45208262	45208262	-	T	exonic	SEMG1	.	frameshift insertion	SEMG1:NM_003007:exon2:c.965_966insT:p.Q323Tfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	0.0005	1.367e-06	1.381e-06	9.022e-07	2.3e-07	9e-08	.	.	0	0	3.939e-05	0	0	0	9.022e-07	0	0	0.0002	0.0006	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	9.725e-05	0.0002	0	0.0001	0.0013	0	0.0002	0	0.0002	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	63.29	80	chr20	45208262	.	C	CT	63.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=971;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.59;MQRankSum=-6.644;QD=0.67;ReadPosRankSum=-3.509;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr20	45208263	45208263	-	GTAG	exonic	SEMG1	.	frameshift insertion	SEMG1:NM_003007:exon2:c.966_967insGTAG:p.Q323Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	0.0005	0	1.379e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0.0002	0.0006	0.0002	0.0001	0.0006	0.0001	8.759e-05	0.0002	9.13e-05	9.69e-05	0	6.57e-05	0.0009	0	9.441e-05	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66.29	67	chr20	45208263	.	A	AGTAG	66.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=931;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.58;MQRankSum=-6.607;QD=0.71;ReadPosRankSum=-3.073;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr20	45223126	45223126	T	G	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.T1494G:p.I498M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.0129792	0.0061	0	0.0005	0.0001	0	7.496e-05	0.0044	0.0439	0.0054204	838	154602	rs200264083	0.0027	0.0027	0.0015	0.0038	0.0426	0.0026	0.0026	0.0415	0.0410	5.979e-05	2.236e-05	0	2.52e-05	0	0.0010	2.248e-05	0.0031	0.0426	0.0015	0.0015	0.0008	0.0023	0.0458	0.0013	0.0013	0.0408	0.0389	4.812e-05	0	0	0	0	0	0.0034	0	0.0014	0.0458	0.006	0.61437	D	0.033	0.53072	D	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.1	0.08495	N	0.064	0.03613	-0.9475	0.41397	T	0.009	0.03227	T	9	0.0036033392	0.00065	T	.	.	.	0.023	0.04649	.	.	0.0551355673512	0.04727	0.01615964793303796	0.01571	0.0136335744113	0.01305	0.338167339563	0.16164	T	0.001841	0.01261	T	-0.736659	0.00022	T	-0.79952	0.01915	T	0.00316115467144673	0.00033	T	0.391261	0.09725	T	0.09576365	0.22543	0.07079846	0.15084	0.09576365	0.22543	0.07079846	0.15084	-4.691	0.33295	T	.	.	0.061	0.01042	B	.	.	0.196853	0.05823	2.263	0.42141125639889504	0.03086	0.00969	0.03707	N	AEFGBI	0.027377	0.02226	N	-1.41160031698997	0.02536	0.1121132	-1.49749222624904	0.02365	0.1086518	6.84269055119707E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.52	-1.44	0.08391	-1.952000	0.01618	-3.735000	0.02572	-0.294000	0.06260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5764:0.0:0.0:0.4236	4.244	0.10115	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.045455	0.02632	1724.33	38	chr20	45223126	.	T	G	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.281;DP=861;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.624;SOR=0.917	GT:AD:DP:GQ:PL	0/1:99,63:162:99:1738,0,2990	18	0	1	0
chr20	45480024	45480024	G	T	exonic	WFDC2	.	nonsynonymous SNV	WFDC2:NM_006103:exon3:c.G306T:p.Q102H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0382341307259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.37750	T	0.123	0.35582	T	0.029	0.29776	B	0.028	0.30579	B	0.093717	0.20210	N	0.412732	0.872603	0.35592	D	2.09	0.57893	M	-0.67	0.72458	T	-3.12	0.63782	D	0.306	0.38643	-0.6055	0.64590	T	0.247	0.61589	T	10	0.28086698	0.45663	T	0.038234	0.58102	D	0.149	0.39377	0.471	0.54537	0.336933722576	0.33308	0.5221685699659302	0.52139	0.0289499722451	0.02984	0.274683058262	0.06761	T	0.569711	0.85732	D	-0.0819855	0.39391	T	-0.355543	0.38568	T	0.305690437555313	0.25237	T	0.593841	0.22137	T	0.12134852	0.28538	0.11557813	0.27900	0.12134852	0.28537	0.11557813	0.27900	-6.177	0.47736	T	.	.	0.293	0.56468	B	.;.;.	.;.;.	1.667598	0.21262	15.12	0.98875741623419833	0.47736	0.64526	0.32435	D	AEFDGBI	0.165135	0.29160	N	-0.287323630636605	0.29638	1.645302	-0.190122909273785	0.31898	1.810	0.830975249561637	0.24693	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.26	4.29	0.50359	0.309000	0.19094	1.374000	0.25980	0.676000	0.76740	0.916000	0.31843	0.239000	0.23838	0.314000	0.24830	0.0:0.1731:0.8269:0.0	12.122	0.53196	939	0.14249	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	33	chr20	45480024	.	G	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=749;ExcessHet=0;FS=7.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.254;SOR=1.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr20	45834377	45834385	CGAGGACGA	-	exonic	SNX21	.	nonframeshift deletion	SNX21:NM_001042632:exon2:c.198_206del:p.D72_D74del,SNX21:NM_001042633:exon2:c.198_206del:p.D72_D74del,SNX21:NM_033421:exon2:c.198_206del:p.D72_D74del,SNX21:NM_152897:exon2:c.198_206del:p.D72_D74del	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.000599042	0.0003	0.0005	0	0.0002	0.0003	0.0002	0	0.0009	0.0001153	3	26028	rs547874769	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0.0002	3.854e-05	0.0003	0.0004	0.0007	0.0003	0.0002	0.0007	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0006	0.0002	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1778.29	36	chr20	45834376	.	CCGAGGACGA	C	1778.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.055;DP=761;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.076;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	18	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013158	0.000000	0.000000	0.014620	0.000000	0.000000	0.028125	0.049618	0.05263	2553.79	35	chr20	45857313	.	C	CATCT	2553.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.66;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	17	0	2	0
chr20	45877361	45877361	T	A	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.T803A:p.I268N	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.01146060106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.81	0.45366	P	0.717	0.54739	P	0.000638	0.42799	D	0.163853	0.932861	0.37036	D	1.245	0.31408	L	1.66	0.27486	T	-0.74	0.20791	N	0.717	0.71942	-1.0246	0.22214	T	0.080	0.31795	T	10	0.54962295	0.64181	D	0.011461	0.29107	T	0.146	0.38789	0.638	0.77470	0.311691414656	0.30774	0.6120008423466361	0.61132	1.10281248813	0.77779	0.478906869888	0.35907	T	0.037508	0.24500	T	0.037148	0.56671	T	-0.184416	0.56113	T	0.907526731491089	0.56184	D	0.787021	0.42574	T	0.37686306	0.59089	0.2724647	0.53157	0.37686306	0.59089	0.2724647	0.53156	-7.245	0.55804	T	.	.	0.389	0.58930	A	.	.	4.023541	0.59445	24.1	0.99269499427876484	0.57491	0.96195	0.67971	D	AEFGBI	0.252329	0.37204	N	0.248677291865897	0.53572	3.525625	0.296001431685843	0.55307	3.693744	0.99998083501104	0.51787	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.49	4.4	0.52402	2.604000	0.45938	4.075000	0.41695	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:0.0699:0.0:0.9301	11.449	0.49385	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	171	chr20	45877361	.	T	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.028;DP=2353;ExcessHet=0;FS=4.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.88;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	18	0	1	0
chr20	45902591	45902591	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.T671C:p.I224T,PLTP:NM_001242921:exon9:c.T692C:p.I231T,PLTP:NM_182676:exon10:c.T800C:p.I267T,PLTP:NM_006227:exon11:c.T956C:p.I319T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00613605266627	.	.	4.584e-05	0	0.0001	0	0	0	0.0016	0.0001	2.59e-05	4	154602	rs750551533	1.645e-05	1.642e-05	5.456e-06	2.757e-05	0.0002	1.113e-05	9.35e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.979e-05	0.0002	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.261	0.24277	T	0.043	0.49942	D	0.921	0.52359	P	0.442	0.52639	B	0.004813	0.33369	N	0.322330	0.904661	0.36257	D	1.87	0.49600	L	2.97	0.09450	T	-0.72	0.20358	N	0.404	0.44474	-1.0599	0.11781	T	0.035	0.14987	T	10	0.20578167	0.36816	T	0.006136	0.16052	T	0.121	0.33580	.	.	0.601496683291	0.59831	0.6909362190958362	0.69033	0.531278919098	0.50631	0.53060567379	0.43120	T	0.097471	0.40033	T	-0.314278	0.07377	T	-0.393023	0.34198	T	0.329480767250061	0.26204	T	0.905209	0.68911	D	0.12833747	0.30007	0.061871417	0.12017	0.12833747	0.30007	0.061871417	0.12016	-1.739	0.03151	T	.	.	0.095	0.20663	B	.;.;.;.;.	.;.;.;.;.	3.833693	0.55435	23.6	0.99662751893075319	0.78074	0.94405	0.61061	D	AEFDBCI	0.840409	0.75771	D	0.432092710881869	0.63194	4.548617	0.489545888803802	0.67294	5.064979	0.999993861268221	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	5.247000	0.65237	9.134000	0.78885	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.921:0.0:0.079:0.0	9.530	0.38354	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	35	chr20	45902591	.	A	G	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=728;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=0.113;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	18	0	1	0
chr20	45904976	45904976	G	A	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon7:c.C563T:p.A188V,PLTP:NM_001242921:exon7:c.C584T:p.A195V,PLTP:NM_182676:exon8:c.C692T:p.A231V,PLTP:NM_006227:exon9:c.C848T:p.A283V	.	.	.	.	.	.	.	.	.	.	.	3175994	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.370	0.0218322361674	0.0002	0.000798722	0.0003	9.628e-05	8.639e-05	0	0	4.496e-05	0	0.0018	0.0002523	39	154602	rs142277281	0.0001	0.0001	6.806e-05	0.0002	0.0015	0.0001	9.567e-05	0.0013	0.0012	0	0	7.652e-05	0.0002	0	0	1.619e-05	0.0002	0.0015	6.564e-05	7.217e-05	5.138e-05	8.054e-05	0.0017	3.513e-05	2.614e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0017	0.004	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.944	0.71005	D	0.000004	0.62929	D	0.105104	0.999543	0.47497	D	2.135	0.59519	M	2.78	0.11298	T	-3.42	0.69835	D	0.862	0.87590	-1.1529	0.00941	T	0.081	0.31884	T	10	0.13412768	0.25526	T	0.021832	0.44651	T	0.370	0.68930	.	.	0.233150807113	0.22925	0.8539370409787151	0.85356	0.716152092919	0.61981	0.529777765274	0.43003	T	0.348928	0.71685	T	-0.264176	0.12415	T	-0.171262	0.57328	T	0.248826205730438	0.22821	T	0.910709	0.68343	D	0.8140447	0.84821	0.7104005	0.82917	0.8140447	0.84822	0.7104005	0.82918	-7.402	0.58213	T	.	.	0.172	0.44332	B	.;.;.;.;.	.;.;.;.;.	4.603400	0.72932	25.9	0.99920228605541583	0.98721	0.94375	0.60965	D	AEFDBCI	0.878928	0.80451	D	0.756221716223645	0.83312	7.984015	0.74933468976705	0.86105	8.784785	0.999999995828037	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.52	5.52	0.82153	6.899000	0.75502	6.594000	0.56035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	19.438	0.94793	746	0.52331	.;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2144.33	34	chr20	45904976	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=816;ExcessHet=0;FS=1.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.449;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	18	0	1	0
chr20	46067113	46067113	G	C	exonic	NCOA5	.	nonsynonymous SNV	NCOA5:NM_001348148:exon4:c.C256G:p.R86G,NCOA5:NM_001348151:exon4:c.C256G:p.R86G,NCOA5:NM_001348149:exon5:c.C571G:p.R191G,NCOA5:NM_020967:exon5:c.C571G:p.R191G,NCOA5:NM_001348150:exon6:c.C382G:p.R128G	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0294512468853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.05	0.48080	T	0.998	0.73220	D	0.965	0.71173	D	0.000002	0.62929	D	0.102047	0.999998	0.58761	D	2.25	0.63811	M	0.61	0.53516	T	-2.07	0.90568	N	0.837	0.83269	-0.7297	0.58979	T	0.237	0.60427	T	10	0.723825	0.73839	D	0.029451	0.51955	D	0.276	0.59253	0.453	0.51612	0.479604954264	0.47592	0.7954028045482863	0.79493	1.25539820539	0.81888	0.7680529356	0.77133	T	0.067249	0.49655	T	0.168763	0.71009	D	0.00463944	0.70636	D	0.977545559406281	0.71895	D	0.937106	0.77406	D	0.28376675	0.51407	0.23786122	0.49095	0.28376675	0.51407	0.23786122	0.49094	-12.97	0.89239	D	.	.	0.561	0.81500	A	.;.	.;.	5.023228	0.83496	28.1	0.99897371377497135	0.96971	0.99280	0.93881	D	AEFBI	0.918406	0.88741	D	0.753719619500123	0.83147	7.941695	0.759205056477787	0.86844	9.021096	0.999897336735067	0.45129	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	7.778000	0.84271	11.476000	0.92875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.8423:0.1577	13.321	0.59872	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1455.33	35	chr20	46067113	.	G	C	1455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=787;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.668;SOR=0.451	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	18	0	1	0
chr20	46186924	46186924	C	T	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon9:c.G1447A:p.A483T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0221658802631	.	.	2.602e-05	0	0	0	0	4.604e-05	0	0	1.94e-05	3	154602	rs755330428	1.307e-05	1.71e-05	1.094e-05	1.523e-05	1.444e-05	8.36e-06	6.74e-06	8.55e-06	6.92e-06	0	0	0	0	0	0	1.444e-05	3.33e-05	1.185e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.268	0.22494	T	0.001	0.07471	B	0.001	0.04355	B	0.068810	0.21647	N	0.505774	0.711841	0.30006	N	1.23	0.30720	L	0.74	0.50459	T	-1.12	0.28906	N	0.193	0.21188	-0.9680	0.37612	T	0.085	0.33128	T	10	0.21661049	0.38248	T	0.022166	0.45031	T	0.117	0.32689	0.747	0.87821	0.44711355012	0.44333	0.34254058730101855	0.34167	.	.	0.60723900795	0.53925	T	0.030129	0.21431	T	-0.218412	0.18211	T	-0.441452	0.28646	T	0.230212144625432	0.21961	T	0.615438	0.23533	T	0.15476726	0.35013	0.18267745	0.41210	0.15476726	0.35012	0.18267745	0.41209	-6.332	0.48975	T	.	.	0.085	0.10208	B	.;.	.;.	2.772485	0.36392	20.2	0.9959546434088894	0.73866	0.91665	0.54004	D	AEFBI	0.429267	0.49245	N	-0.259478941366623	0.30726	1.716019	-0.0874684077468997	0.35907	2.083045	0.0667750772431016	0.15405	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.12	4.12	0.47504	2.572000	0.45663	3.384000	0.38022	0.577000	0.29297	0.857000	0.30561	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.560	0.75980	510	0.75209	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1144.33	34	chr20	46186924	.	C	T	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=724;ExcessHet=0;FS=8.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.47;SOR=1.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr20	46350521	46350521	T	C	exonic	SLC35C2	.	nonsynonymous SNV	SLC35C2:NM_001281457:exon10:c.A629G:p.D210G,SLC35C2:NM_001281459:exon10:c.A566G:p.D189G,SLC35C2:NM_015945:exon10:c.A971G:p.D324G,SLC35C2:NM_173073:exon10:c.A908G:p.D303G,SLC35C2:NM_173179:exon10:c.A971G:p.D324G,SLC35C2:NM_001281458:exon11:c.A1058G:p.D353G,SLC35C2:NM_001281460:exon11:c.A971G:p.D324G	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0086109082072	0.0021	0.00179712	0.0021	0.0003	0.0016	0	0.0018	0.0030	0.0023	0.0011	0.0018758	290	154602	rs143795303	0.0018	0.0018	0.0018	0.0018	0.0053	0.0018	0.0017	0.0038	0.0033	6.192e-05	0.0014	0.0162	0	0.0011	0.0053	0.0016	0.0029	0.0013	0.0015	0.0015	0.0015	0.0015	0.0020	0.0013	0.0013	0.0015	0.0014	0.0001	0	0.0020	0.0179	0	0.0005	0.0102	0.0017	0.0024	0.0002	0.163	0.23450	T	0.378	0.28032	T	0.0	0.02946	B	0.0	0.01387	B	0.006365	0.32080	N	0.257775	0.938683	0.37234	D	1.01	0.25309	L	.	.	.	-1.4	0.34596	N	0.151	0.16586	-0.8973	0.48264	T	0.150	0.47681	T	10	0.0027718544	0.00043	T	0.008611	0.22755	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.38103868468112606	0.38018	0.41808778898	0.42406	0.356770187616	0.18914	T	0.044574	0.26857	T	-0.455216	0.01052	T	-0.432211	0.29685	T	0.00793546066681542	0.00093	T	0.746125	0.37642	T	0.1882468	0.40314	0.08651374	0.20048	0.1882468	0.40314	0.08651374	0.20048	-1.853	0.02672	T	.	.	0.058	0.00693	B	.;.;.;.;.	.;.;.;.;.	2.308493	0.29544	18.16	0.9667532234322993	0.30679	0.63907	0.32236	D	ALL	0.157506	0.28302	N	-0.533987106294768	0.20989	1.110562	-0.377810688370747	0.25660	1.412503	0.999999999999923	0.74766	0.741868	0.97996	0	0.749866	0.99406	0	0.774882	0.98623	0	0.648885	0.59868	0	.	.	4.63	3.54	0.39650	1.369000	0.33832	3.394000	0.38086	0.665000	0.62972	0.924000	0.32081	1.000000	0.68203	0.968000	0.53726	0.0:0.0927:0.0:0.9073	7.909	0.28941	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.018293	0.003788	0.05263	1428.83	33	chr20	46350521	.	T	C	1428.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.009;DP=723;ExcessHet=0.119;FS=1.893;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.99;SOR=0.479	GT:AD:DP:GQ:PL	0/1:19,23:42:99:553,0,503	17	0	2	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002494	0.000000	0.000000	0.004505	0.000000	0.000000	0.000000	0.000000	0.02632	2043.33	62	chr20	46541318	.	C	T	2043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=820;ExcessHet=0;FS=5.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.319;SOR=1.272	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1375	18	0	1	0
chr20	46550558	46550558	C	T	exonic	OCSTAMP	.	startloss	OCSTAMP:NM_080721:exon1:c.G3A:p.M1?	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.743415468977	0.0009	0.000399361	0.0015	0	0.0073	0	0.0018	0.0008	0	0.0024	0.000414	64	154602	rs201982370	0.0010	0.0010	0.0009	0.0012	0.0072	0.0010	0.0010	0.0055	0.0048	0.0003	0.0004	0	0	0.0001	0.0072	0.0010	0.0014	0.0030	0.0007	0.0007	0.0006	0.0008	0.0017	0.0006	0.0006	0.0010	0.0009	7.214e-05	0.0011	0.0005	0	0	0.0004	0.0102	0.0012	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.981	0.59675	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.68	0.19509	N	0.905	0.90590	-0.5239	0.67770	T	0.263	0.63437	T	8	0.05213979	0.05202	T	0.743415	0.97947	D	0.293	0.61272	0.758	0.88730	0.335164054921	0.33125	0.3978455299208361	0.39699	.	.	.	.	.	0.003471	0.02879	T	-0.112038	0.34431	T	0.0638671	0.74502	D	0.152734796077675	0.17319	T	0.9	0.65058	D	0.8784407	0.89539	0.6997496	0.82311	0.8784407	0.89540	0.6997496	0.82312	-8.173	0.62243	D	.	.	.	.	.	.	.	2.151221	0.27404	17.45	0.98501855793267334	0.42228	0.82009	0.41305	D	AEFDBHCI	0.019887	0.00733	N	0.330129444091183	0.57701	3.938492	0.227479204873877	0.51377	3.320807	0.999976488912041	0.50053	0.487112	0.14033	0	0.480063	0.06835	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	3.315000	0.51661	5.478000	0.48715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	12.085	0.52989	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004184	0.005263	0.000000	0.004167	0.000000	0.000000	0.000000	0.009804	0.02632	2033.33	34	chr20	46550558	.	C	T	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.842;DP=780;ExcessHet=0;FS=7.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.436;SOR=0.329	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr20	47221364	47221364	C	T	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281771:exon19:c.G2911A:p.A971T,ZMYND8:NM_001281776:exon19:c.G2986A:p.A996T,ZMYND8:NM_001281781:exon19:c.G3013A:p.A1005T,ZMYND8:NM_001281782:exon19:c.G3073A:p.A1025T,ZMYND8:NM_001281784:exon19:c.G3151A:p.A1051T,ZMYND8:NM_001281775:exon20:c.G3367A:p.A1123T,ZMYND8:NM_001281777:exon20:c.G3154A:p.A1052T,ZMYND8:NM_001281778:exon20:c.G3292A:p.A1098T,ZMYND8:NM_001281783:exon20:c.G3367A:p.A1123T,ZMYND8:NM_001363714:exon20:c.G3388A:p.A1130T,ZMYND8:NM_012408:exon20:c.G3229A:p.A1077T,ZMYND8:NM_183047:exon20:c.G3229A:p.A1077T,ZMYND8:NM_183048:exon20:c.G3154A:p.A1052T,ZMYND8:NM_001281773:exon21:c.G3307A:p.A1103T,ZMYND8:NM_001281774:exon21:c.G3169A:p.A1057T,ZMYND8:NM_001281779:exon21:c.G2425A:p.A809T,ZMYND8:NM_001281780:exon21:c.G2425A:p.A809T,ZMYND8:NM_001363741:exon21:c.G3307A:p.A1103T,ZMYND8:NM_001281772:exon22:c.G3307A:p.A1103T	.	431	1081	9	1	0	11	0.00506213	.	.	.	2396388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00967715537484	0.0002	.	0.0002	9.612e-05	0.0010	0.0001	0	0.0001	0.0011	0	0.0001552	24	154602	rs143716806	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0.0001	0.0008	3.826e-05	2.519e-05	0	0.0016	0.0002	0.0005	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	7.216e-05	0	0.0016	0	0	0	0.0034	0.0002	0.0019	0	0.437	0.12961	T	0.742	0.07316	T	0.002	0.09854	B	0.001	0.08700	B	0.032776	0.24985	N	0.432753	0.97205	0.26530	N	0.345	0.11182	N	0.57	0.54347	T	0.01	0.09796	N	0.176	0.26233	-1.0014	0.29516	T	0.064	0.26562	T	10	0.018911302	0.00416	T	0.009677	0.25290	T	0.023	0.04649	.	.	0.379214838424	0.37538	0.16214316185650401	0.16134	0.384277178928	0.39732	0.278437525034	0.07276	T	0.010482	0.09459	T	-0.465963	0.00901	T	-0.521361	0.20156	T	0.00754689844325185	0.00087	T	0.880112	0.61998	D	0.018104492	0.00332	0.03312803	0.02156	0.018104492	0.00332	0.03312803	0.02156	-2.982	0.12358	T	.	.	0.058	0.00919	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.372569	0.17831	13.39	0.67872337020210671	0.08485	0.22848	0.21883	N	AEFDBHCIJ	0.057182	0.10630	N	-0.363406447558495	0.26783	1.46435	-0.366144015250453	0.26015	1.434221	0.0176432889997388	0.12973	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.66	0.013	0.13413	0.108000	0.15232	-1.036000	0.06531	0.599000	0.40250	0.584000	0.27618	0.000000	0.08366	0.486000	0.28701	0.0:0.3304:0.0:0.6696	9.349	0.37291	793	0.45818	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1315.33	35	chr20	47221364	.	C	T	1315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.362;DP=741;ExcessHet=0;FS=1.499;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.804;SOR=0.74	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	18	0	1	0
chr20	47238856	47238856	T	C	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281784:exon14:c.A2351G:p.K784R,ZMYND8:NM_001281775:exon15:c.A2567G:p.K856R,ZMYND8:NM_001281778:exon15:c.A2492G:p.K831R,ZMYND8:NM_001281783:exon15:c.A2567G:p.K856R,ZMYND8:NM_001363714:exon15:c.A2588G:p.K863R,ZMYND8:NM_001281773:exon16:c.A2507G:p.K836R,ZMYND8:NM_001363741:exon16:c.A2507G:p.K836R,ZMYND8:NM_001281772:exon17:c.A2507G:p.K836R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.137403765003	.	.	8.544e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs764584368	5.475e-06	5.472e-06	6.809e-06	4.127e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.006	0.61437	D	0.022	0.57587	D	0.997	0.77913	D	0.985	0.84481	D	0.000001	0.84330	U	0.000000	1	0.81001	D	1.1	0.28011	L	-2.23	0.87830	D	-1.63	0.39119	N	0.233	0.28849	0.658	0.92648	D	0.783	0.92624	D	9	0.29241216	0.46818	T	0.137404	0.81990	D	0.367	0.68670	0.208	0.12497	0.881380982873	0.88022	0.38487671329915346	0.38402	.	.	.	.	.	0.043359	0.26478	T	0.151748	0.69431	D	-0.0198012	0.69042	D	0.676302850246429	0.39620	D	0.926207	0.74231	D	0.26471376	0.49538	0.29487088	0.55518	0.26471376	0.49538	0.29487088	0.55517	-3.366	0.14602	T	.	.	0.131	0.39681	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106680	0.61274	24.3	0.99856427080554278	0.93548	0.95541	0.65132	D	AEFBCI	0.672606	0.63895	D	0.603998518882334	0.73426	5.964376	0.604238031960578	0.75246	6.27697	0.999955992720115	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.71	5.71	0.89031	5.043000	0.64012	2.300000	0.32012	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.657	0.76905	782	0.47442	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2112.33	39	chr20	47238856	.	T	C	2112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.799;DP=792;ExcessHet=0;FS=2.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.359;SOR=0.494	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1379	18	0	1	0
chr20	47627951	47627951	C	T	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon8:c.C751T:p.R251C,NCOA3:NM_001174088:exon8:c.C751T:p.R251C,NCOA3:NM_006534:exon8:c.C751T:p.R251C,NCOA3:NM_181659:exon8:c.C751T:p.R251C	.	.	.	.	.	.	.	.	.	.	.	2675520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.015408985187	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs773805737	0.0001	0.0001	9.803e-05	0.0001	0.0001	8.849e-05	8.334e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	0.0001	6.624e-05	1.159e-05	5.257e-05	5.25e-05	3.857e-05	6.72e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.066	0.36709	T	0.003	0.76473	D	0.969	0.90584	D	0.622	0.75793	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	4.07	0.03435	T	-6.26	0.90608	D	0.926	0.93252	-1.1768	0.00419	T	0.033	0.14377	T	10	0.81121397	0.80403	D	0.015409	0.36125	T	0.346	0.66769	0.583	0.70990	0.795642183836	0.79373	0.850377765640294	0.84999	0.634968755684	0.57331	0.748650670052	0.74247	T	0.572297	0.85858	D	0.0474887	0.58018	T	0.0221204	0.71767	D	0.746321022510529	0.43081	D	0.978302	0.92360	D	0.46341982	0.64883	0.3479788	0.60444	0.46341982	0.64884	0.3479788	0.60444	-9.349	0.69946	D	.	.	0.957	0.87684	P	.;.;.	.;.;.	4.886045	0.80171	27.3	0.99927685664842103	0.99163	0.96920	0.71664	D	AEFBI	0.613024	0.60088	D	0.406634834652674	0.61787	4.384545	0.429889555261997	0.63436	4.577227	0.999999794296105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	4.78	0.60666	3.106000	0.50013	5.968000	0.51946	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2773:0.7227:0.0:0.0	13.880	0.63177	126	0.94940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2739.83	40	chr20	47627951	.	C	T	2739.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.008;DP=851;ExcessHet=0.119;FS=1.106;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.45;SOR=0.599	GT:AD:DP:GQ:PL	0/1:38,61:99:99:1561,0,861	17	0	2	0
chr20	47651116	47651116	-	CAA	exonic	NCOA3	.	nonframeshift insertion	NCOA3:NM_001174087:exon20:c.3783_3784insCAA:p.Q1275_T1276insQ,NCOA3:NM_001174088:exon20:c.3759_3760insCAA:p.Q1267_T1268insQ,NCOA3:NM_006534:exon20:c.3774_3775insCAA:p.Q1272_T1273insQ,NCOA3:NM_181659:exon20:c.3786_3787insCAA:p.Q1276_T1277insQ	.	327	1166	10	7	12	36	0.0101868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.0016	0.0116	0.0086	0.0003	0.0003	0.0069	0.0434	0.00146	38	26028	rs753491875	0.0035	0.0044	0.0023	0.0046	0.0432	0.0034	0.0034	0.0420	0.0415	0.0024	0.0080	0.0023	0.0115	3.999e-05	0.0027	0.0002	0.0048	0.0432	0.0041	0.0043	0.0029	0.0053	0.0599	0.0038	0.0037	0.0541	0.0519	0.0025	0	0.0083	0.0035	0.0136	0	0	0.0004	0.0033	0.0599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285270	0.252525	0.317935	0.255245	0.250000	0.327586	0.273006	0.231061	0.02941	2423.07	47	chr20	47651116	.	G	GCAA	2423.07	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.367;DP=1166;ExcessHet=0;FS=2.424;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=20.89;ReadPosRankSum=2.91;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	16	0	1	2
chr20	47651121	47651121	-	GC	exonic	NCOA3	.	frameshift insertion	NCOA3:NM_001174087:exon20:c.3788_3789insGC:p.Q1264Hfs*23,NCOA3:NM_001174088:exon20:c.3764_3765insGC:p.Q1256Hfs*23,NCOA3:NM_006534:exon20:c.3779_3780insGC:p.Q1261Hfs*23,NCOA3:NM_181659:exon20:c.3791_3792insGC:p.Q1265Hfs*23	.	340	1148	19	7	8	41	0.0141692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0293	0.0007	0.0005	0	0.0011	0.0013	0.0035	0.0001153	3	26028	rs747117653	0.0027	0.0028	0.0027	0.0027	0.0376	0.0026	0.0026	0.0351	0.0342	0.0376	0.0021	0	0.0017	6.244e-05	0.0054	0.0022	0.0035	0.0040	0.0079	0.0081	0.0077	0.0080	0.0218	0.0075	0.0073	0.0206	0.0201	0.0218	0	0.0059	0.0003	0.0010	9.517e-05	0.0034	0.0022	0.0101	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2031.67	47	chr20	47651121	.	A	AGC	2031.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.889;DP=1051;ExcessHet=0;FS=12.031;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=2.44;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	17	0	1	1
chr20	47651122	47651122	-	G	exonic	NCOA3	.	frameshift insertion	NCOA3:NM_001174087:exon20:c.3789_3790insG:p.Q1264Afs*21,NCOA3:NM_001174088:exon20:c.3765_3766insG:p.Q1256Afs*21,NCOA3:NM_006534:exon20:c.3780_3781insG:p.Q1261Afs*21,NCOA3:NM_181659:exon20:c.3792_3793insG:p.Q1265Afs*21	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0165	0.0005	0.0005	0	0.0009	0.0012	0.0008	1.94e-05	3	154602	.	0.0021	0.0023	0.0022	0.0020	0.0213	0.0020	0.0020	0.0198	0.0192	0.0213	0.0017	0	0.0014	5.798e-05	0.0027	0.0019	0.0026	0.0007	0.0065	0.0067	0.0064	0.0066	0.0177	0.0061	0.0060	0.0166	0.0162	0.0177	0	0.0056	0.0003	0.0006	9.654e-05	0.0034	0.0020	0.0093	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7399.14	47	chr20	47651122	.	A	AG	7399.14	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=1096;ExcessHet=0.0506;FS=14.969;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=1.28;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	18	0	1	0
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.005848	0.000000	0.008621	0.033537	0.015152	0.02632	1154.33	42	chr20	49096393	.	G	T	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.925;DP=747;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.348;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1362	18	0	1	0
chr20	49248662	49248662	T	A	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon14:c.A4362T:p.E1454D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0109540912651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.245	0.24054	T	0.872	0.47902	P	0.237	0.38508	B	0.000014	0.62929	D	0.117449	0.668304	0.81001	D	1.845	0.48678	L	0.43	0.56772	T	-1.44	0.35399	N	0.291	0.34659	-0.9406	0.42521	T	0.088	0.34050	T	10	0.15322968	0.28927	T	0.010954	0.28062	T	0.095	0.27398	0.183	0.09131	0.200294437569	0.19612	0.1983539730384628	0.19752	0.37764237124	0.39187	0.461374908686	0.33499	T	0.022219	0.17168	T	-0.0468303	0.44927	T	-0.305045	0.44189	T	0.639410495758057	0.38012	D	0.875013	0.58582	D	0.16967809	0.37497	0.12911335	0.31051	0.16967809	0.37497	0.12911335	0.31050	-6.193	0.47866	T	.	.	0.502	0.64677	A	.;.	.;.	2.196153	0.28006	17.65	0.98957217933747232	0.49266	0.90999	0.52663	D	AEFDBCI	0.445809	0.50213	N	0.0177416351359667	0.42662	2.574748	0.110304971501197	0.45073	2.777195	0.999998167300409	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.07	3.84	0.43422	1.546000	0.35787	2.366000	0.32401	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.2274:0.0:0.7726	7.604	0.27259	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2825.33	35	chr20	49248662	.	T	A	2825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.886;DP=836;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.409;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1261	18	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	894	0.26265	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.02632	2601.33	35	chr20	49257526	.	T	C	2601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.391;DP=1053;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.724;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	18	0	1	0
chr20	49270631	49270631	C	T	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon3:c.G1181A:p.S394N	.	427	1080	15	0	0	15	0.00689655	.	.	.	728713	ZNFX1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.245	0.0145941870166	0.0019	0.00319489	0.0019	0.0028	0.0041	0	0.0003	0.0015	0.0033	0.0029	0.0017982	278	154602	rs142531207	0.0015	0.0015	0.0015	0.0016	0.0101	0.0015	0.0015	0.0080	0.0072	0.0040	0.0045	0.0026	2.519e-05	0.0002	0.0101	0.0013	0.0029	0.0023	0.0023	0.0023	0.0023	0.0023	0.0061	0.0021	0.0020	0.0051	0.0047	0.0028	0	0.0061	0.0026	0	0.0002	0.0102	0.0015	0.0066	0.0029	0.332	0.13045	T	0.375	0.16231	T	0.039	0.21116	B	0.011	0.15521	B	0.000081	0.51296	D	0.241758	0.694197	0.33357	D	0.065	0.08236	N	-1.84	0.86415	D	-0.21	0.16393	N	0.077	0.09066	-0.3591	0.73290	T	0.394	0.74735	T	10	0.005534351	0.00122	T	0.014594	0.34806	T	0.245	0.55201	.	.	0.0675242888579	0.06100	0.3309857942690628	0.33011	0.362721336408	0.37921	0.528571367264	0.42832	T	0.011811	0.10480	T	-0.401384	0.02268	T	-0.345331	0.39740	T	0.0125463992663683	0.00208	T	0.752425	0.38090	T	0.10381373	0.24539	0.0833315	0.19089	0.10381373	0.24538	0.0833315	0.19088	-8.142	0.62033	D	.	.	0.091	0.19154	B	.;.;.;.;.	.;.;.;.;.	2.044557	0.25992	16.96	0.96842356861710799	0.31308	0.68973	0.34006	D	ALL	0.116028	0.22789	N	-0.179799147647563	0.33977	1.933869	-0.00705870404005451	0.39395	2.335168	0.999999314337297	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.463624	0.06942	0	0.735409	0.98432	0	.	.	5.85	4.91	0.63897	0.883000	0.27838	3.989000	0.40972	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8461:0.0:0.1539	10.018	0.41199	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.030303	0.019022	0.023392	0.000000	0.017241	0.003049	0.007576	0.02632	2253.33	39	chr20	49270631	.	C	T	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=865;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.558;SOR=0.58	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr20	49514311	49514311	C	A	exonic	PTGIS	.	stopgain	PTGIS:NM_000961:exon7:c.G940T:p.E314X	Hypertension, essential, Multifactorial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.435e-05	0	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs13306027	4.789e-05	4.788e-05	5.717e-05	3.85e-05	0.0006	3.86e-05	3.54e-05	0.0004	0.0003	0	0	0.0015	0.0006	0	0	2.698e-06	8.279e-05	1.159e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	0	0.0014	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.507523	0.11880	N	0.753921	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.793	0.78927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150764	0.69340	D	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.414079	0.90608	31	0.98068723466706487	0.38007	0.12878	0.17534	N	AEFGBI	0.184492	0.31182	N	-0.187899852272669	0.33637	1.910634	-0.529391717215856	0.21356	1.154915	0.964177408920619	0.28741	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.1	2.07	0.26004	-0.206000	0.09400	-0.157000	0.11360	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.7109:0.1818:0.1073	6.700	0.22405	437	0.80299	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	33	chr20	49514311	.	C	A	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=694;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.471;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1257	18	0	1	0
chr20	49643576	49643576	T	C	exonic	B4GALT5	.	nonsynonymous SNV	B4GALT5:NM_004776:exon4:c.A439G:p.I147V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00593075338668	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs746894463	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.698e-06	0	2.319e-05	6.581e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	0.998	0.02320	T	0.019	0.17989	B	0.074	0.28220	B	0.000001	0.84330	D	0.094386	0.999985	0.54805	D	0.285	0.10073	N	2.05	0.20664	T	0.02	0.06739	N	0.374	0.41557	-1.0855	0.06316	T	0.032	0.13811	T	10	0.10286224	0.18878	T	0.005931	0.15460	T	0.061	0.17616	.	.	0.0675242888579	0.06100	0.3922917818900596	0.39144	0.0332987198026	0.03484	0.401377379894	0.25261	T	0.035	0.23545	T	-0.256465	0.13318	T	-0.509317	0.21386	T	0.505723178386688	0.32839	D	0.905809	0.66782	D	0.06438421	0.13656	0.070521176	0.14992	0.06438421	0.13656	0.070521176	0.14992	-2.89	0.09044	T	.	.	0.066	0.02200	B	.	.	2.582105	0.33479	19.35	0.66018701341222163	0.07938	0.97785	0.77116	D	AEFBI	0.556195	0.56632	D	-0.407291604137514	0.25213	1.367059	-0.199671181928365	0.31549	1.786487	0.999999593795746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.35	0.51454	2.755000	0.47219	5.045000	0.46946	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1388:0.8612	12.607	0.55887	908	0.22609	Galactosyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1029.33	37	chr20	49643576	.	T	C	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.911;DP=718;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.716;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	18	0	1	0
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S,SPATA2:NM_006038:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	37.17	44	chr20	49906823	.	T	G	37.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.476;DP=966;ExcessHet=0;FS=61.547;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.38;SOR=6.183	GT:AD:DP:GQ:PL	0/0:47,0:47:65:0,65,1210	16	0	1	2
chr20	50602474	50602474	C	G	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon13:c.G1257C:p.E419D,RIPOR3:NM_080829:exon13:c.G1245C:p.E415D	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0119109144543	0.0049	0.00199681	0.0052	0.0006	0.0004	0	0.0030	0.0080	0.0051	0.0037	0.0050517	781	154602	rs144558424	0.0067	0.0067	0.0069	0.0065	0.0081	0.0066	0.0066	0.0079	0.0079	0.0012	0.0009	0.0005	0	0.0027	0.0002	0.0081	0.0053	0.0027	0.0042	0.0042	0.0045	0.0038	0.0077	0.0039	0.0038	0.0072	0.0070	0.0011	0.0077	0.0012	0.0003	0	0.0018	0	0.0077	0.0014	0.0029	0.324	0.13392	T	0.413	0.14412	T	0.997	0.70673	D	0.965	0.71173	D	0.020935	0.26936	N	0.409722	0.674785	0.30332	N	.	.	.	2.34	0.16351	T	-0.93	0.24898	N	0.318	0.35938	-1.0395	0.17465	T	0.063	0.26136	T	10	0.008121848	0.00184	T	0.011911	0.29998	T	0.100	0.28662	.	.	0.0920862733494	0.08535	0.25541592063235047	0.25455	0.459993664077	0.45558	0.522039055824	0.41913	T	0.115549	0.43422	T	-0.513499	0.00480	T	-0.499351	0.22414	T	0.0357320049059987	0.02934	T	0.742826	0.36203	T	0.06399069	0.13531	0.044538733	0.05791	0.06399069	0.13531	0.044538733	0.05791	-3.596	0.17799	T	.	.	0.193	0.41326	B	.;.	.;.	2.785248	0.36596	20.3	0.99672287853527342	0.78652	0.83814	0.42909	D	AEFDBI	0.431630	0.49384	N	0.354541062756924	0.58978	4.073782	0.265620137404254	0.53542	3.522719	0.0554246765937889	0.15016	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.34	3.39	0.37919	1.670000	0.37118	2.150000	0.30904	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.446000	0.27806	0.0:0.7996:0.0:0.2004	7.307	0.25627	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	821.33	41	chr20	50602474	.	C	G	821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=-0.361;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	18	0	1	0
chr20	50608696	50608696	G	A	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon10:c.C727T:p.R243W,RIPOR3:NM_080829:exon10:c.C715T:p.R239W	.	417	1092	13	0	0	13	0.00591716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0030	0.00299521	0.0015	0.0089	0.0011	0	0.0006	0.0006	0.0033	0.0018	0.0014036	217	154602	rs146608853	0.0007	0.0007	0.0007	0.0008	0.0074	0.0007	0.0007	0.0067	0.0064	0.0074	0.0012	0.0003	2.519e-05	0.0003	0.0054	0.0004	0.0011	0.0024	0.0029	0.0029	0.0030	0.0028	0.0086	0.0027	0.0026	0.0078	0.0075	0.0086	0	0.0012	0	0.0002	0	0.0068	0.0007	0.0043	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000038	0.55875	D	0.113950	0.999355	0.46766	D	.	.	.	4.24	0.02590	T	-6.45	0.91395	D	0.539	0.56662	-1.1321	0.01684	T	0.017	0.07092	T	10	0.014628202	0.00307	T	.	.	.	0.194	0.47447	.	.	0.188950314367	0.18478	0.7456769486626577	0.74513	0.147208149037	0.16604	0.401348888874	0.25256	T	0.23984	0.60804	T	-0.386566	0.02830	T	-0.32222	0.42332	T	0.0610925249243361	0.07339	T	0.90041	0.65400	D	0.66904294	0.76382	0.482499	0.70036	0.66904294	0.76383	0.482499	0.70036	-9.648	0.71778	D	.	.	0.178	0.38889	B	.;.	.;.	4.965140	0.82122	27.7	0.99852357759980759	0.93191	0.71609	0.35087	D	AEFBI	0.742646	0.68620	D	0.0389342769538542	0.43635	2.652567	-0.0476691694940398	0.37592	2.203088	8.56114553760182E-4	0.07917	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.08	1.68	0.23219	2.438000	0.44495	2.906000	0.35479	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.3068:0.6932	12.240	0.53852	972	0.05671	FAM65, N-terminal;FAM65, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1270.33	36	chr20	50608696	.	G	A	1270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=736;ExcessHet=0;FS=2.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.318;SOR=0.697	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr20	50738061	50738061	A	G	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon2:c.A271G:p.I91V	.	442	1070	9	1	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0066	0.00439297	0.0062	0.0018	0.0020	0	0.0103	0.0088	0.0056	0.0031	0.0063583	983	154602	rs142921418	0.0082	0.0082	0.0083	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0013	0.0021	0.0049	0	0.0100	0.0040	0.0094	0.0064	0.0032	0.0062	0.0061	0.0061	0.0062	0.0094	0.0058	0.0057	0.0088	0.0085	0.0013	0.0647	0.0033	0.0040	0	0.0086	0.0068	0.0094	0.0052	0.0037	0.587	0.05862	T	0.601	0.09425	T	0.0	0.02946	B	0.011	0.15521	B	0.000012	0.62929	N	0.110103	0.993702	0.42026	D	0.655	0.16177	N	1.92	0.23082	T	-0.39	0.13611	N	0.117	0.19190	-1.0753	0.08287	T	0.019	0.07986	T	10	0.0058921874	0.00132	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.3899317708589102	0.38908	0.272749980587	0.29779	0.580203175545	0.50115	T	0.031695	0.22156	T	-0.604373	0.00137	T	-0.631521	0.10299	T	0.00658088937206584	0.00074	T	0.790321	0.43084	T	0.07281682	0.16227	0.06673828	0.13711	0.07281682	0.16227	0.06673828	0.13710	-0.823	0.35701	T	.	.	0.126	0.34383	B	.;.	.;.	2.435978	0.31345	18.71	0.73037053756398296	0.10184	0.81229	0.40677	D	AEFBCI	0.393482	0.47111	N	-0.347672708174574	0.27358	1.500341	-0.120459690892231	0.34567	1.989761	0.999996817449049	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.14	5.02	0.66742	2.524000	0.45250	5.452000	0.48648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9318:0.0:0.0682:0.0	11.890	0.51906	871	0.31377	PB1 domain|PB1 domain|PB1 domain|Partitioning defective protein 6, PB1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.008621	0.009146	0.003788	0.05263	2558.81	33	chr20	50738061	.	A	G	2558.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.99;SOR=1.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	1	0	0
chr20	50959845	50959845	C	-	exonic	MOCS3	.	frameshift deletion	MOCS3:NM_014484:exon1:c.1003delC:p.R335Vfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2371.29	38	chr20	50959844	.	GC	G	2371.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=794;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-2.113;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1236	18	0	1	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,100,1239:.	14	0	5	0
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D,NFATC2:NM_001258292:exon3:c.G1223A:p.G408D,NFATC2:NM_001258294:exon3:c.G626A:p.G209D,NFATC2:NM_001258295:exon3:c.G626A:p.G209D,NFATC2:NM_001258296:exon3:c.G626A:p.G209D,NFATC2:NM_001258297:exon3:c.G626A:p.G209D,NFATC2:NM_012340:exon3:c.G1283A:p.G428D,NFATC2:NM_173091:exon3:c.G1283A:p.G428D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.43	34	chr20	51516833	.	C	T	292.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,100,1239:.	18	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:29,0:29:0:.:.:0,0,519:.	4	0	11	4
chr20	51523997	51523997	G	A	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon2:c.C184T:p.P62S,NFATC2:NM_001258292:exon2:c.C184T:p.P62S,NFATC2:NM_012340:exon2:c.C244T:p.P82S,NFATC2:NM_173091:exon2:c.C244T:p.P82S	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0191717849542	.	.	2.645e-05	0	0	0	0	1.575e-05	0	0.0002	2.59e-05	4	154602	rs753475209	1.13e-05	1.915e-05	2.801e-06	1.995e-05	0.0007	6.69e-06	5.41e-06	0.0002	0.0001	0	3.188e-05	0	0	0	0.0007	3.655e-06	1.718e-05	7.546e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.63226	D	0.415	0.32891	T	0.005	0.12996	B	0.01	0.14941	B	0.000460	0.44317	N	0.209202	0.994616	0.23480	N	1.43	0.35840	L	-0.43	0.69657	T	-1.46	0.35792	N	0.239	0.29544	-0.9651	0.38191	T	0.159	0.49279	T	10	0.12795353	0.24336	T	0.019172	0.41459	T	0.094	0.27141	.	.	0.555656803998	0.55224	0.2388836973619077	0.23802	0.384061563188	0.39718	0.347084701061	0.17492	T	0.333371	0.70323	T	-0.253108	0.13719	T	-0.470898	0.25420	T	0.0751288744021716	0.09353	T	0.70443	0.31478	T	0.063954085	0.13519	0.071806364	0.15417	0.063954085	0.13519	0.071806364	0.15417	-3.834	0.21614	T	.	.	0.073	0.05711	B	.;.;.;.	.;.;.;.	2.075293	0.26395	17.10	0.96522715609418808	0.30122	0.94565	0.61579	D	AEFBI	.	.	.	-0.372441755519563	0.26456	1.443956	-0.249170622857099	0.29801	1.672539	0.999836314531824	0.43792	0.562547	0.31514	0	0.653731	0.59785	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.58	2.29	0.27658	4.177000	0.58072	5.720000	0.49467	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0783:0.1324:0.5155:0.2738	4.382	0.10729	972	0.05671	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2060.33	45	chr20	51523997	.	G	A	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=773;ExcessHet=0;FS=10.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=1.05;SOR=0.646	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr20	52084831	52084831	C	T	exonic	ZFP64	.	nonsynonymous SNV	ZFP64:NM_001319146:exon5:c.G1007A:p.R336Q,ZFP64:NM_199427:exon9:c.G1664A:p.R555Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0061	0.00559105	0.0018	0.0196	0.0005	0	0	0.0001	0.0022	0	0.001727	267	154602	rs61734611	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0008	0.0010	0	0	0.0003	7.734e-05	0.0012	1.159e-05	0.0054	0.0054	0.0055	0.0053	0.0186	0.0051	0.0050	0.0175	0.0171	0.0186	0	0.0022	0.0014	0	0	0.0034	7.35e-05	0.0028	0	0.228	0.18434	T	0.589	0.08476	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	3.27	0.06681	T	-0.31	0.12099	N	0.091	0.06990	-0.9757	0.35970	T	0.009	0.03271	T	9	0.0023572147	0.00035	T	.	.	.	0.046	0.12618	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	0.006674	0.06097	T	-0.725757	0.00025	T	-0.800339	0.01894	T	0.00300046056966284	0.00031	T	0.742826	0.36203	T	.	.	.	.	.	.	.	.	-3.29	0.13608	T	.	.	0.075	0.09868	B	.;.	.;.	1.046761	0.14277	10.85	0.9430517497331341	0.24619	0.11289	0.16535	N	AEFDBI	0.076193	0.15323	N	-0.713946391497292	0.15629	0.7893175	-0.687383956040576	0.17276	0.917876	0.0136404455247131	0.12491	0.744818	0.98587	0	0.588066	0.40923	0	0.732433	0.93434	0	0.635551	0.53088	0	.	.	4.4	1.4	0.21393	-0.017000	0.12529	-0.936000	0.06865	-0.218000	0.08083	0.001000	0.13787	0.000000	0.08366	0.591000	0.31164	0.0:0.5822:0.0:0.4178	7.872	0.28734	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2331.33	34	chr20	52084831	.	C	T	2331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=2.38;SOR=0.692	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1227	18	0	1	0
chr20	53255326	53255326	C	A	exonic	TSHZ2	.	nonsynonymous SNV	TSHZ2:NM_001193421:exon2:c.C1859A:p.A620D,TSHZ2:NM_173485:exon2:c.C1868A:p.A623D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00900081492999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902035318	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.17239	T	0.612	0.07642	T	0.112	0.26290	B	0.026	0.20792	B	0.001342	0.39310	N	0.255042	0.916953	0.36566	D	0.55	0.14455	N	1.16	0.38073	T	-0.04	0.07590	N	0.264	0.29889	-1.0196	0.23845	T	0.083	0.32642	T	10	0.098894715	0.17911	T	0.009001	0.23702	T	0.047	0.12962	0.117	0.02508	0.58934274002	0.58610	0.18688690149603837	0.18606	0.214031236135	0.23940	0.357421338558	0.19009	T	0.064758	0.32516	T	-0.251404	0.13925	T	-0.498271	0.22526	T	0.0990347554678602	0.12251	T	0.734027	0.34984	T	0.15823513	0.35610	0.23658915	0.48934	0.15823513	0.35610	0.23658915	0.48933	-4.072	0.24876	T	.	.	0.094	0.16494	B	.;.;.	.;.;.	2.501747	0.32295	19.00	0.80562070212013703	0.13262	0.96498	0.69439	D	AEFBI	0.386016	0.46654	N	-0.184395318153056	0.33783	1.920657	-0.0747359182708699	0.36438	2.120579	0.0018858842833961	0.08975	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.01	0.45821	1.181000	0.31626	3.906000	0.40380	0.589000	0.31548	0.571000	0.27513	0.999000	0.35428	0.238000	0.22948	0.0:0.8554:0.1446:0.0	14.831	0.69781	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2125.33	43	chr20	53255326	.	C	A	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.729;DP=850;ExcessHet=0;FS=9.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=-0.658;SOR=1.339	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr20	53569201	53569201	C	T	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon5:c.G3101A:p.R1034Q	.	443	1031	46	2	0	50	0.0236742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0049	0.00479233	0.0099	0.0015	0.0072	0.0009	0.0100	0.0107	0.0022	0.0170	0.0046183	714	154602	rs75039525	0.0049	0.0041	0.0045	0.0053	0.0207	0.0048	0.0047	0.0173	0.0160	0.0006	0.0020	0.0001	0.0002	0.0068	0.0207	0.0043	0.0056	0.0139	0.0037	0.0037	0.0035	0.0039	0.0131	0.0034	0.0033	0.0105	0.0096	0.0008	0	0.0033	0.0003	0.0006	0.0065	0.0102	0.0048	0.0052	0.0131	0.0	0.91255	D	0.731	0.05146	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.99	0.62151	D	.	.	-0.9425	0.42218	T	0.093	0.35336	T	5	0.004605949	0.00096	T	.	.	.	0.077	0.22490	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	0.090548	0.38608	T	-0.643281	0.00080	T	-0.685129	0.06676	T	0.0355138344568988	0.02896	T	0.417558	0.11011	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.	.	0.287449	0.06639	3.137	0.82333282757554527	0.14138	0.07719	0.13720	N	AEFBCI	0.040385	0.06000	N	-0.453351430880905	0.23626	1.270087	-0.570792146065723	0.20256	1.090495	0.988758464126872	0.31617	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	-0.552	0.11227	-0.489000	0.06570	-2.316000	0.03909	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.6539:0.0:0.3461	10.159	0.42013	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	35	chr20	53569201	.	C	T	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.4;DP=762;ExcessHet=0;FS=5.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.949;SOR=0.366	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1449	18	0	1	0
chr20	53953467	53953467	G	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001366297:exon8:c.C1369T:p.R457W,BCAS1:NM_001316361:exon9:c.C1411T:p.R471W,BCAS1:NM_001323347:exon9:c.C1411T:p.R471W,BCAS1:NM_001366295:exon10:c.C1603T:p.R535W,BCAS1:NM_001366296:exon10:c.C1579T:p.R527W,BCAS1:NM_003657:exon11:c.C1645T:p.R549W,BCAS1:NM_001366298:exon12:c.C1780T:p.R594W	.	412	1090	20	0	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0002	0.00399361	0.0025	0.0003	0.0005	0.0001	0	0.0004	0	0.0162	0.0021992	340	154602	rs188012448	0.0012	0.0012	0.0007	0.0017	0.0157	0.0012	0.0012	0.0150	0.0147	0.0001	0.0006	0.0005	7.557e-05	1.872e-05	0.0071	0.0002	0.0016	0.0157	0.0010	0.0010	0.0005	0.0015	0.0210	0.0009	0.0008	0.0177	0.0165	0.0002	0	0.0004	0.0009	0.0002	0	0.0034	0.0004	0.0028	0.0210	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.97372	D	0.002761	0.36001	N	0.222730	0.670929	0.33141	D	2.28	0.64929	M	1.21	0.37230	T	-6.94	0.93440	D	0.388	0.42931	-0.5742	0.65848	T	0.261	0.63230	T	10	0.005350113	0.00117	T	.	.	.	0.210	0.50028	.	.	0.82854224837	0.82691	0.1716294766568985	0.17082	0.199979703506	0.22402	0.339065551758	0.16298	T	0.14164	0.47680	T	-0.298894	0.08764	T	-0.189143	0.55671	T	0.0607446879401988	0.07285	T	0.946905	0.79612	D	0.5574415	0.70368	0.4632254	0.68838	0.5574415	0.70369	0.4632254	0.68839	-11.287	0.81209	D	.	.	0.139	0.45036	B	.;.;.	.;.;.	4.133385	0.61874	24.4	0.99920841866352461	0.98721	0.68083	0.33669	D	AEFBI	0.655364	0.62773	D	0.456268054002504	0.64560	4.713242	0.401661854413652	0.61669	4.370221	0.999350946669149	0.39259	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.17	4.21	0.48984	0.858000	0.27500	2.821000	0.34963	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.646:0.354	11.189	0.47902	943	0.12886	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1887.33	34	chr20	53953467	.	G	A	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.6;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr20	53966998	53966998	C	T	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001366295:exon8:c.G1216A:p.E406K,BCAS1:NM_001366296:exon9:c.G1258A:p.E420K,BCAS1:NM_003657:exon9:c.G1258A:p.E420K,BCAS1:NM_001366298:exon10:c.G1393A:p.E465K	.	431	1087	4	0	0	4	0.00183655	.	.	.	3301765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00491189695075	0.0005	.	0.0003	9.61e-05	0.0003	0.0002	0	0.0005	0.0011	6.056e-05	0.0002975	46	154602	rs139595442	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0045	0.0001	0.0003	0.0009	5.042e-05	0	0.0068	0.0003	0.0004	0.0001	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0003	0.0001	0.0001	0.0001	0.0352	0.0002	0.0009	0	0	0.0034	0.0002	0.0009	0	0.305	0.14256	T	0.387	0.15650	T	0.014	0.16867	B	0.006	0.12133	B	0.028248	0.25631	N	0.399922	1	0.30199	N	1.91	0.51138	L	3.13	0.08014	T	-2.22	0.49846	N	0.198	0.21839	-1.0342	0.19109	T	0.016	0.06569	T	10	0.0030166805	0.00049	T	0.004912	0.12349	T	0.063	0.18251	.	.	0.186928172975	0.18263	0.0972455507371318	0.09655	0.093218127879	0.10534	0.381559431553	0.22477	T	0.022851	0.17544	T	-0.451118	0.01113	T	-0.5798	0.14563	T	0.0308510421801718	0.02123	T	0.693931	0.30359	T	0.07632773	0.17254	0.10702441	0.25758	0.07632773	0.17254	0.10702441	0.25757	-3.082	0.11090	T	.	.	0.096	0.15520	B	.;.	.;.	1.490042	0.19171	14.13	0.94692582932790836	0.25337	0.08994	0.14836	N	AEFGBI	0.139700	0.26137	N	-0.910206698912035	0.10603	0.5074427	-0.847885945893087	0.13339	0.6913897	0.987309286087262	0.31233	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	4.72	0.59248	1.590000	0.36264	3.941000	0.40603	-0.187000	0.09635	0.008000	0.17931	0.919000	0.28284	0.208000	0.22126	0.0:0.9127:0.0:0.0873	10.780	0.45569	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.008152	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	2077.33	39	chr20	53966998	.	C	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=798;ExcessHet=0;FS=5.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.541;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1262	18	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07895	4934.79	37	chr20	54028628	.	C	A	4934.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.163;DP=1008;ExcessHet=0.3672;FS=4.732;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.449;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,108,1511:.	16	0	3	0
chr20	54158136	54158136	G	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon9:c.C1186T:p.R396W,CYP24A1:NM_001128915:exon9:c.C1186T:p.R396W	Hypercalcemia, infantile, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	38634	not_provided|Muscle_spasm|Hypercalcemia,_infantile,_1|Inborn_genetic_diseases	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763|MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.873	0.318012648288	0.0005	0.000399361	0.0007	9.724e-05	0.0002	0	0.0009	0.0010	0.0011	6.07e-05	0.0006921	107	154602	rs114368325	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	0.0002	8.944e-05	7.655e-05	0	0.0015	0.0002	0.0009	0.0006	3.478e-05	0.0008	0.0008	0.0009	0.0006	0.0013	0.0007	0.0006	0.0011	0.0010	7.219e-05	0	0.0003	0	0	0.0020	0	0.0013	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	3.505	0.92816	H	-1.45	0.89363	T	-7.83	0.96005	D	0.965	0.99410	0.941	0.96259	D	0.859	0.95305	D	10	0.76755583	0.76824	D	0.318013	0.91388	D	0.873	0.96207	.	.	0.955333933826	0.95486	0.9212887468366902	0.92104	0.390435494056	0.40253	0.682484388351	0.64626	T	0.844569	0.96405	D	0.12348	0.66719	D	0.374515	0.91234	D	0.200067238336662	0.20420	T	0.979152	0.92740	D	0.9481788	0.96080	0.9315219	0.97199	0.9427925	0.95532	0.94267696	0.97942	-12.969	0.89235	D	.	.	0.699	0.76856	P	.;.;.	.;.;.	5.007787	0.83134	28.0	0.99913873445359669	0.98238	0.82775	0.41958	D	AEFDBCI	0.592741	0.58833	D	0.582586247318138	0.72088	5.751001	0.451663966231781	0.64823	4.746654	0.999994794200743	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.05	0.25860	1.716000	0.37601	3.890000	0.40289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.5947:0.4053	15.054	0.71563	959	0.08690	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	35	chr20	54158136	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=727;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.29;SOR=0.536	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr20	56381474	56381474	G	A	exonic	AURKA	.	nonsynonymous SNV	AURKA:NM_003600:exon6:c.C664T:p.L222F,AURKA:NM_198435:exon6:c.C664T:p.L222F,AURKA:NM_198437:exon6:c.C664T:p.L222F,AURKA:NM_001323303:exon7:c.C664T:p.L222F,AURKA:NM_001323304:exon7:c.C664T:p.L222F,AURKA:NM_198434:exon7:c.C664T:p.L222F,AURKA:NM_198436:exon7:c.C664T:p.L222F,AURKA:NM_001323305:exon8:c.C664T:p.L222F,AURKA:NM_198433:exon8:c.C664T:p.L222F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709	0.0628084844214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.97372	D	0.000005	0.62929	D	0.000000	1	0.81001	D	.	.	.	-0.65	0.72237	T	-3.83	0.72240	D	0.782	0.77883	0.207	0.86027	D	0.577	0.84764	D	10	0.81815517	0.81038	D	0.062808	0.68771	D	0.709	0.89605	0.576	0.70087	0.77016534982	0.76805	0.7830217219064631	0.78253	.	.	0.680755674839	0.64377	T	0.066206	0.32886	T	0.274046	0.80799	D	0.155872	0.80553	D	0.989840742506246	0.80064	D	0.918008	0.70480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.87371	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.082940	0.84841	28.4	0.9991223772396427	0.98167	0.99440	0.96055	D	AEFBI	0.909127	0.86535	D	0.885099186519782	0.91011	10.67227	0.853848828129106	0.93241	11.91306	1.0	0.98316	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.592000	0.81944	9.725000	0.81379	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.762	0.96320	987	0.02648	.;.;.;.;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	521.33	50	chr20	56381474	.	G	A	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=677;ExcessHet=0;FS=4.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.205;SOR=0.289	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1324	18	0	1	0
chr20	56445928	56445928	G	C	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon3:c.G326C:p.R109P,CASS4:NM_001164115:exon3:c.G488C:p.R163P,CASS4:NM_020356:exon3:c.G488C:p.R163P,CASS4:NM_001164116:exon4:c.G488C:p.R163P	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.012402183307	0.0002	0.00139776	0.0013	9.626e-05	0.0002	0	0.0003	0.0004	0.0045	0.0077	0.0011513	178	154602	rs149841530	0.0007	0.0007	0.0004	0.0009	0.0082	0.0006	0.0006	0.0077	0.0075	0.0005	8.944e-05	0.0028	0	1.878e-05	0.0036	8.363e-05	0.0011	0.0082	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	4.818e-05	0	0	0.0038	0	0	0	0.0002	0	0.0066	0.014	0.53172	D	0.213	0.51421	T	0.986	0.77913	D	0.769	0.65636	P	0.105942	0.02592	N	1.740750	1	0.08975	N	2.215	0.62545	M	2.43	0.21865	T	-3.57	0.68999	D	0.166	0.19459	-1.0460	0.15534	T	0.106	0.38636	T	10	0.0065027773	0.00147	T	0.012402	0.30939	T	0.097	0.27909	.	.	0.168933306366	0.16529	0.42310685389067393	0.42227	.	.	0.239176526666	0.02717	T	0.13167	0.46130	T	-0.487838	0.00668	T	-0.468535	0.25674	T	0.0947952644140671	0.11774	T	0.763224	0.39853	T	0.30827567	0.53636	0.22834937	0.47874	0.30827567	0.53636	0.22834937	0.47873	-3.345	0.14325	T	.	.	0.127	0.27100	B	.;.	.;.	1.604234	0.20508	14.78	0.9867108982920203	0.44470	0.15935	0.19152	N	AEFDBCI	0.187868	0.31515	N	-0.308841378077718	0.28811	1.592291	-0.540583565487438	0.21056	1.137306	0.999942353432912	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	-0.5	0.11412	-0.026000	0.12340	-1.365000	0.05612	-0.109000	0.15193	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.2201:0.1235:0.5296:0.1268	2.681	0.04777	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.02632	2081.33	226	chr20	56445928	.	G	C	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.875;DP=861;ExcessHet=0;FS=5.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.704;SOR=0.857	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	18	0	1	0
chr20	56452243	56452243	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.C905T:p.T302M,CASS4:NM_020356:exon5:c.C1067T:p.T356M,CASS4:NM_001164116:exon6:c.C1067T:p.T356M	.	.	.	.	.	.	.	.	.	.	.	2263938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00416592914568	.	.	1.659e-05	0	8.687e-05	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs774792011	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.71e-06	2.987e-05	2.236e-05	0	0	0	0.0002	1.259e-05	0	0	3.286e-05	3.94e-05	6.424e-05	0	7.243e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	2.94e-05	0	0	0.538	0.06847	T	0.169	0.30534	T	0.001	0.07471	B	0.001	0.04355	B	0.255838	0.03677	N	1.405110	1	0.08975	N	-1.735	0.00332	N	1.71	0.26737	T	1.97	0.00421	N	0.063	0.03502	-1.0534	0.13466	T	0.018	0.07234	T	10	0.01942578	0.00434	T	0.004166	0.09995	T	0.013	0.01715	0.173	0.07894	0.0297737177859	0.01360	0.14542425844287662	0.14465	.	.	0.227011263371	0.01755	T	0.004126	0.03532	T	-0.487966	0.00667	T	-0.85584	0.00889	T	0.0428584476841387	0.04212	T	0.145285	0.01187	T	0.011723489	0.00021	0.02464359	0.00488	0.011723489	0.00021	0.02464359	0.00488	-4.263	0.27655	T	.	.	0.067	0.02428	B	.	.	-1.450652	0.00326	0.006	0.060207344451539357	0.00018	0.02360	0.06726	N	AEFDGBCI	0.041599	0.06346	N	-1.82134254598984	0.00495	0.02130425	-1.75549473756339	0.00913	0.04082751	0.937810895241179	0.27314	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	-1.55	0.08105	-0.907000	0.04176	-7.382000	0.01168	-0.663000	0.04345	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1124:0.2537:0.2335:0.4004	1.589	0.02490	986	0.02773	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2683.33	34	chr20	56452243	.	C	T	2683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=828;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.459;SOR=0.812	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr20	56452648	56452648	G	A	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.G1310A:p.R437K,CASS4:NM_020356:exon5:c.G1472A:p.R491K,CASS4:NM_001164116:exon6:c.G1472A:p.R491K	.	426	1095	1	0	0	1	0.000456413	.	.	.	717060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0112	0.00778754	0.0032	0.0361	0.0009	0	0	7.494e-05	0.0011	0.0001	0.0030401	470	154602	rs16979936	0.0010	0.0010	0.0011	0.0008	0.0345	0.0009	0.0009	0.0328	0.0322	0.0345	0.0017	0	0	0	0.0016	2.158e-05	0.0022	0.0001	0.0096	0.0096	0.0102	0.0090	0.0331	0.0092	0.0090	0.0316	0.0310	0.0331	0	0.0038	0	0	0	0.0034	0.0001	0.0085	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.011	0.15521	B	0.135950	0.18463	N	0.621704	1	0.08975	N	1.24	0.30952	L	2.05	0.20664	T	-0.88	0.23808	N	0.089	0.06720	-0.9885	0.32978	T	0.012	0.04653	T	10	0.002634257	0.00041	T	.	.	.	0.067	0.19503	.	.	0.0611884634855	0.05136	0.23253581508673563	0.23168	.	.	0.30453106761	0.11080	T	0.016997	0.13941	T	-0.697195	0.00038	T	-0.747789	0.03573	T	0.0021950570203464	0.00023	T	0.576842	0.20728	T	0.12844129	0.30028	0.12436019	0.29977	0.12844129	0.30028	0.12436019	0.29976	-3.792	0.20685	T	.	.	0.084	0.09917	B	.	.	2.151244	0.27404	17.45	0.75075834633762084	0.10936	0.44004	0.27223	N	AEFGBCI	0.220130	0.34492	N	-0.612198060079573	0.18577	0.965567	-0.509011373301213	0.21909	1.187402	0.971161572934481	0.29265	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.87	2.92	0.32998	1.585000	0.36210	6.664000	0.56257	0.676000	0.76740	0.106000	0.22914	1.000000	0.68203	1.000000	0.97212	0.2679:0.0:0.7321:0.0	9.401	0.37596	987	0.02648	Serine rich protein interaction domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1859.33	34	chr20	56452648	.	G	A	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=791;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.3;SOR=0.896	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr20	56458589	56458589	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164115:exon5:c.C892T:p.R298C,CASS4:NM_001164114:exon6:c.C2041T:p.R681C,CASS4:NM_020356:exon6:c.C2203T:p.R735C,CASS4:NM_001164116:exon7:c.C2203T:p.R735C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00366478058822	0.0002	0.000199681	0.0002	0.0014	0	0	0	0.0001	0	0	0.0001617	25	154602	rs150842021	8.893e-05	8.961e-05	8.849e-05	8.939e-05	0.0019	7.622e-05	7.168e-05	0.0015	0.0014	0.0019	4.474e-05	0	0	0	0.0003	4.497e-05	0.0002	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0	0	0	0	0	0.0001	0	0	0.184	0.21634	T	0.388	0.19539	T	0.0	0.02946	B	0.001	0.04355	B	0.404720	0.13077	N	0.759553	1	0.08975	N	-0.955	0.01252	N	1.93	0.22881	T	0.85	0.01761	N	0.028	0.01004	-0.9718	0.36819	T	0.013	0.05225	T	10	0.0054938197	0.00121	T	0.003665	0.08433	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.09986393391688184	0.09917	.	.	0.195366024971	0.00335	T	0.008006	0.07373	T	-0.682634	0.00046	T	-0.772347	0.02692	T	0.0258917990547966	0.01391	T	0.810819	0.46223	T	0.04131973	0.06064	0.041950487	0.04884	0.04131973	0.06063	0.041950487	0.04884	-5.328	0.47639	T	.	.	0.082	0.16494	B	.;.	.;.	-0.119121	0.03530	0.672	0.88221580099739794	0.17809	0.05549	0.11445	N	AEFDGBCI	0.066427	0.13007	N	-1.82605686174107	0.00484	0.02085486	-1.85211958919255	0.00606	0.02693632	0.999999999682536	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.91	-9.85	0.00395	-2.441000	0.01091	-2.919000	0.03230	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.0858:0.5149:0.0877:0.3117	8.297	0.31156	987	0.02648	CAS family, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1661.33	33	chr20	56458589	.	C	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=2073;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.36;SOR=1.021	GT:AD:DP:GQ:PL	0/0:165,0:165:99:0,120,1800	18	0	1	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.02941	407.14	34	chr20	56524998	.	C	T	407.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.87;DP=1707;ExcessHet=0;FS=38.265;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.62;MQRankSum=-17.24;QD=1.11;ReadPosRankSum=-3.185;SOR=3.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	16	0	1	2
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.02632	229.33	34	chr20	56525005	.	T	C	229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=1073;ExcessHet=0;FS=36.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.35;MQRankSum=-17.15;QD=0.65;ReadPosRankSum=-3.351;SOR=3.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chr20	56525825	56525825	C	T	exonic	FAM209A	.	stopgain	FAM209A:NM_001012971:exon2:c.C271T:p.R91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	9.641e-05	0	0	0	4.5e-05	0.0011	0.0010	0.0001423	22	154602	rs368902169	8.756e-05	8.756e-05	5.173e-05	0.0001	0.0011	7.488e-05	7.035e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0005	2.248e-05	0.0001	0.0011	7.881e-05	7.875e-05	3.854e-05	0.0001	0.0012	4.494e-05	3.51e-05	0.0005	0.0004	0	0	6.54e-05	0	0	0	0	7.349e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.501260	0.11947	N	0.682160	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0539541	0.58850	T	0.248377	0.85542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.653748	0.96731	36	0.99271803486965149	0.57593	0.05176	0.10995	N	AEFBI	0.040405	0.06005	N	0.102185690616634	0.46565	2.894903	-0.229319857726401	0.30491	1.717218	3.30982844447974E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.7	2.67	0.30756	1.807000	0.38540	2.208000	0.31344	0.306000	0.19039	0.147000	0.23610	0.423000	0.24817	0.069000	0.16583	0.0:0.7846:0.2154:0.0	9.591	0.38713	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1151.33	35	chr20	56525825	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.511;DP=733;ExcessHet=0;FS=2.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.765;SOR=0.463	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	18	0	1	0
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S	.	421	1082	17	2	0	21	0.00961098	.	.	.	705564	not_provided|Congenital_total_pulmonary_venous_return_anomaly|BMP7-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.012228	0.026316	0.000000	0.017241	0.000000	0.018939	0.02632	940.33	41	chr20	57175004	.	T	C	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=694;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.09;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	18	0	1	0
chr20	57500392	57500392	C	T	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon9:c.G1073A:p.R358H,CTCFL:NM_001269044:exon10:c.G1859A:p.R620H,CTCFL:NM_001269049:exon10:c.G1244A:p.R415H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000964999625755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487063316	2.484e-05	5.092e-05	5.905e-05	0	0.0003	4.12e-06	1.54e-06	.	.	0	0.0003	0	0	0	0	2.278e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-0.01	0.07155	N	0.066	0.05287	-0.9976	0.30590	T	0.018	0.07612	T	7	0.08861965	0.15277	T	9.65E-4	0.00980	T	0.025	0.05312	.	.	0.15499578495	0.15088	.	.	.	.	.	.	.	.	.	.	-0.364356	0.03890	T	-0.761149	0.03071	T	0.0522529051462897	0.05891	T	0.686731	0.29555	T	.	.	.	.	.	.	.	.	-3.921	0.24042	T	.	.	0.132	0.29339	B	.;.;.	.;.;.	0.332478	0.07066	3.631	0.33081777907907295	0.01952	0.00485	0.02305	N	AEFGBI	0.059463	0.11232	N	-0.902873532820256	0.10774	0.5165516	-1.0604954591449	0.08489	0.4176537	0.0194287635104451	0.13161	0.608966	0.35542	0	0.681609	0.65952	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.235	0.235	0.14697	-0.637000	0.05556	-0.901000	0.06991	-0.569000	0.04791	0.076000	0.22236	0.000000	0.08366	0.053000	0.15439	.	.	.	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	470.33	35	chr20	57500392	.	C	T	470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=657;ExcessHet=0;FS=10.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.365;SOR=1.468	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,979	18	0	1	0
chr20	57519222	57519222	C	G	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon2:c.G124C:p.V42L,CTCFL:NM_001269055:exon2:c.G124C:p.V42L,CTCFL:NM_001269041:exon3:c.G910C:p.V304L,CTCFL:NM_001269044:exon3:c.G910C:p.V304L,CTCFL:NM_001269048:exon3:c.G910C:p.V304L,CTCFL:NM_001269049:exon3:c.G295C:p.V99L,CTCFL:NM_001269050:exon3:c.G295C:p.V99L,CTCFL:NM_001269052:exon3:c.G910C:p.V304L,CTCFL:NM_001269040:exon4:c.G910C:p.V304L,CTCFL:NM_001269042:exon4:c.G910C:p.V304L,CTCFL:NM_001269043:exon4:c.G910C:p.V304L,CTCFL:NM_001269045:exon4:c.G910C:p.V304L,CTCFL:NM_001269046:exon4:c.G910C:p.V304L,CTCFL:NM_001269047:exon4:c.G910C:p.V304L,CTCFL:NM_001269051:exon4:c.G910C:p.V304L,CTCFL:NM_080618:exon5:c.G910C:p.V304L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00455010480724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.20683	T	0.226	0.27503	T	0.103	0.25884	B	0.083	0.29179	B	0.622135	0.10767	N	0.774326	0.999893	0.20292	N	-0.17	0.04298	N	3.32	0.06214	T	-1.59	0.39314	N	0.185	0.21580	-0.9613	0.38936	T	0.007	0.02321	T	10	0.09690827	0.17416	T	0.00455	0.11220	T	0.049	0.13647	0.549	0.66436	0.246926113748	0.24311	0.24507355701661335	0.24421	0.727886391485	0.62587	0.306280910969	0.11345	T	0.091504	0.38810	T	-0.385754	0.02864	T	-0.791885	0.02113	T	0.652024686336517	0.38549	D	0.847115	0.52772	T	0.07529126	0.16953	0.11019696	0.26567	0.07529126	0.16953	0.11019696	0.26567	-5.663	0.51244	T	.	.	0.380	0.69386	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.533304	0.00275	0.004	0.82071389232656267	0.14004	0.04173	0.09670	N	AEFBI	0.169526	0.29636	N	-1.57966644165454	0.01369	0.05967142	-1.64962578061119	0.01378	0.06224278	0.999547216487471	0.40300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.25	-7.4	0.01252	-1.126000	0.03365	-11.030000	0.00642	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.2029:0.0952:0.7018	12.677	0.56262	912	0.21483	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	943.33	38	chr20	57519222	.	C	G	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=698;ExcessHet=0;FS=5.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-1.572;SOR=1.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	18	0	1	0
chr20	57616295	57616295	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160417:exon2:c.G208A:p.G70R,ZBP1:NM_001160419:exon2:c.G208A:p.G70R,ZBP1:NM_030776:exon2:c.G208A:p.G70R	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00419329	0.0027	0.0112	0.0006	0.0001	0	0.0025	0.0011	0.0019	0.0024838	384	154602	rs34964609	0.0014	0.0014	0.0014	0.0015	0.0136	0.0014	0.0013	0.0126	0.0122	0.0136	0.0013	0.0346	0	0	0.0059	0.0002	0.0035	0.0016	0.0049	0.0049	0.0053	0.0044	0.0128	0.0046	0.0045	0.0119	0.0116	0.0128	0	0.0017	0.0389	0.0002	0	0.0068	0.0005	0.0043	0.0004	0.156	0.25154	T	0.018	0.60972	D	0.627	0.40110	P	0.113	0.31689	B	0.041386	0.01891	N	2.183150	1	0.08975	N	1.155	0.29575	L	2.68	0.14160	T	-1.18	0.30140	N	0.062	0.06322	-1.0108	0.26666	T	0.009	0.03227	T	10	0.0031135082	0.00052	T	.	.	.	0.059	0.16972	0.061	0.00225	0.156986980423	0.15292	0.22140616143073116	0.22055	0.327190081899	0.34854	0.287139356136	0.08508	T	0.021961	0.17012	T	-0.741878	0.00020	T	-0.827402	0.01309	T	0.00490808428772134	0.00053	T	0.353365	0.07952	T	0.055367734	0.10752	0.067521274	0.13980	0.055367734	0.10751	0.067521274	0.13980	-3.986	0.25922	T	.	.	0.134	0.31279	B	.;.	.;.	0.406319	0.07776	4.460	0.77448902718689139	0.11880	0.00677	0.02910	N	AEFDGBI	0.052077	0.09259	N	-1.21888180718147	0.04727	0.213924	-1.33913012214583	0.03936	0.1846243	0.753907358740411	0.23403	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.63	-2.86	0.05376	-1.962000	0.01605	-8.878000	0.00900	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3774:0.0:0.6226	8.677	0.33346	823	0.40596	Double-stranded RNA-specific adenosine deaminase (DRADA);.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.015152	0.006793	0.017544	0.000000	0.000000	0.003049	0.003788	0.02632	132.33	33	chr20	57616295	.	C	T	132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=677;ExcessHet=0;FS=1.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=-0.602;SOR=1.23	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr20	57616351	57616351	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160417:exon2:c.G152A:p.R51Q,ZBP1:NM_001160419:exon2:c.G152A:p.R51Q,ZBP1:NM_030776:exon2:c.G152A:p.R51Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0045	0.00399361	0.0011	0.0112	0.0005	0	0	5.993e-05	0	0.0001	0.0010284	159	154602	rs142665294	0.0004	0.0004	0.0005	0.0003	0.0130	0.0004	0.0004	0.0120	0.0116	0.0130	0.0011	0	0	3.744e-05	0.0007	3.058e-05	0.0008	0.0001	0.0037	0.0037	0.0041	0.0033	0.0128	0.0035	0.0034	0.0119	0.0116	0.0128	0	0.0014	0	0	0	0	7.351e-05	0.0028	0	0.162	0.23631	T	0.018	0.60972	D	0.809	0.45342	P	0.175	0.35598	B	0.280155	0.14961	N	0.508601	0.999983	0.23003	N	0.805	0.20218	L	0.52	0.55266	T	-1.51	0.36787	N	0.082	0.05799	-1.0547	0.13119	T	0.042	0.17952	T	10	0.0055773556	0.00123	T	.	.	.	0.066	0.19193	.	.	0.354610295913	0.35065	0.2863155054714661	0.28544	0.275091832937	0.29991	0.228240907192	0.01840	T	0.036418	0.24096	T	-0.649418	0.00073	T	-0.695232	0.06090	T	0.033437154799019	0.02542	T	0.739426	0.36682	T	0.092612036	0.21731	0.07772562	0.17343	0.092612036	0.21730	0.07772562	0.17343	-7.475	0.57434	T	.	.	0.094	0.16929	B	.;.	.;.	1.167230	0.15569	11.94	0.97625527316083771	0.34989	0.00505	0.02373	N	AEFDGBI	0.034233	0.04204	N	-0.966517970464211	0.09325	0.4408886	-1.11473218537511	0.07419	0.3607591	0.801518095230051	0.24194	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.63	-3.18	0.04867	-1.228000	0.03057	-3.768000	0.02550	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.210000	0.22183	0.0:0.3074:0.0:0.6926	9.179	0.36290	823	0.40596	Double-stranded RNA-specific adenosine deaminase (DRADA)|Double-stranded RNA-specific adenosine deaminase (DRADA);.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	443.33	33	chr20	57616351	.	C	T	443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.825;DP=696;ExcessHet=0;FS=10.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.438;SOR=2.081	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	18	0	1	0
chr20	57659684	57659684	A	C	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon2:c.T39G:p.F13L,PMEPA1:NM_020182:exon2:c.T123G:p.F41L,PMEPA1:NM_199169:exon2:c.T18G:p.F6L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0483179926639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47320	D	0.074	0.44702	T	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.975749	0.81001	D	2.305	0.65957	M	0.35	0.58029	T	-3.86	0.83899	D	0.889	0.93370	-0.6246	0.63798	T	0.229	0.59484	T	10	0.32764465	0.50045	T	0.048318	0.63318	D	0.346	0.66769	0.277	0.23004	0.26547132957	0.26150	0.09641927489829885	0.09573	1.64433334347	0.89410	0.823511123657	0.85566	D	0.360389	0.72664	T	0.179751	0.72020	D	0.020423	0.71657	D	0.982915163040161	0.74780	D	0.887811	0.69058	D	0.32543778	0.55094	0.2581674	0.51545	0.32543778	0.55094	0.2581674	0.51544	-4.621	0.32435	T	0.2888779298514452	0.38519	0.973	0.91726	P	.;.;.;.	.;.;.;.	3.158508	0.42787	21.6	0.96506706976997692	0.30062	0.76101	0.37299	D	AEFDGBCI	0.285979	0.39848	N	-0.633794852901726	0.17936	0.9271826	-0.884982278081543	0.12450	0.6404417	0.999857459658131	0.44174	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	-6.17	0.01912	0.888000	0.27904	-0.847000	0.07194	-0.956000	0.02005	1.000000	0.71638	0.000000	0.08366	0.901000	0.43729	0.6107:0.0:0.282:0.1073	8.291	0.31119	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	34	chr20	57659684	.	A	C	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.451;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1169	18	0	1	0
chr20	58150968	58150968	G	T	exonic	C20orf85	.	nonsynonymous SNV	C20orf85:NM_178456:exon1:c.G4T:p.A2S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00658683364048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415909054	1.376e-06	3.42e-06	1.367e-06	1.385e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.0	0.92824	D	0.06	0.23119	B	0.009	0.14300	B	0.094660	0.20162	N	0.381328	0.877851	0.28100	N	1.475	0.37068	L	1.72	0.26588	T	-0.78	0.21644	N	0.178	0.19190	-1.0425	0.16562	T	0.051	0.21767	T	10	0.12844247	0.24433	T	0.006587	0.17386	T	0.054	0.15330	0.128	0.03331	0.165133752707	0.16062	0.39814864416040796	0.39729	0.17885719924	0.20123	.	.	.	0.002911	0.02309	T	-0.221128	0.17839	T	-0.555412	0.16810	T	0.0734177700192932	0.09123	T	0.462454	0.13421	T	0.081687704	0.18782	0.06533689	0.13229	0.081687704	0.18782	0.06533689	0.13229	-3.163	0.12034	T	.	.	0.091	0.13268	B	.	.	2.328841	0.29829	18.25	0.98303205767283908	0.40068	0.49705	0.28494	N	AEFDGBHCI	0.096762	0.19528	N	-0.353578018570987	0.27140	1.486718	-0.308743387049627	0.27816	1.546168	0.985294543894057	0.30862	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.542086	0.14980	0	.	.	4.22	0.917	0.18507	0.251000	0.18025	3.007000	0.35945	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.974000	0.55675	0.1022:0.0:0.5382:0.3595	5.188	0.14517	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1696.33	34	chr20	58150968	.	G	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.791;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.553;SOR=0.731	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1710,0,1525	18	0	1	0
chr20	58221397	58221397	G	A	exonic	ANKRD60	.	nonsynonymous SNV	ANKRD60:NM_001304369:exon3:c.C668T:p.A223V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0378491636902	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866444577	1.571e-05	1.573e-05	2.114e-05	1.014e-05	0.0002	1.029e-05	8.79e-06	0.0001	7.279e-05	0.0002	0	0	2.798e-05	0	0	1.019e-05	5.156e-05	0	7.229e-05	7.881e-05	6.425e-05	8.071e-05	0.0001	3.972e-05	3.128e-05	4.74e-05	3.054e-05	0.0001	0	0.0001	0	0	0	0	2.94e-05	0.0010	0	0.036	0.43393	D	0.005	0.72224	D	.	.	.	.	.	.	0.000091	0.51296	D	0.000000	0.660669	0.33049	D	1.92	0.51302	L	-0.43	0.69657	T	-3.34	0.66325	D	0.513	0.54409	0.022	0.82702	D	0.383	0.73884	T	8	0.7969157	0.79153	D	0.037849	0.57866	D	0.454	0.75347	0.67	0.80803	0.423002944196	0.41917	0.4956031152613826	0.49481	.	.	.	.	.	0.103619	0.41243	T	0.119156	0.66288	D	-0.0511307	0.66945	D	0.987764418125153	0.78200	D	0.69603	0.30552	T	0.27909166	0.50960	0.3997081	0.64527	0.27909166	0.50960	0.3997081	0.64527	-11.878	0.84251	D	.	.	0.433	0.61326	A	.	.	4.212752	0.63657	24.6	0.99901896453898953	0.97350	0.95206	0.63830	D	AEFBI	0.403389	0.47710	N	0.269684276706001	0.54619	3.627022	0.27734728050778	0.54220	3.587625	0.915283827561174	0.26478	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	5.14	0.70008	4.211000	0.58304	7.447000	0.58926	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	15.335	0.73955	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2432.33	36	chr20	58221397	.	G	A	2432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.318;DP=854;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.161;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1382	18	0	1	0
chr20	58713966	58713966	A	C	exonic	NPEPL1	.	nonsynonymous SNV	NPEPL1:NM_024663:exon10:c.A1175C:p.E392A,NPEPL1:NM_001204872:exon11:c.A1091C:p.E364A,NPEPL1:NM_001204873:exon11:c.A1031C:p.E344A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00857730459547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.34095	T	0.384	0.15794	T	0.008	0.14655	B	0.023	0.19966	B	0.000061	0.52346	D	0.170248	0.975941	0.45323	D	0.475	0.13142	N	0.91	0.44856	T	-2.75	0.58407	D	0.319	0.36989	-1.0819	0.06984	T	0.071	0.29001	T	10	0.28231946	0.45810	T	0.008577	0.22680	T	0.110	0.31079	0.554	0.67133	0.567821670524	0.56447	0.6226477661605637	0.62197	0.234128094816	0.25950	0.474983751774	0.35367	T	0.202911	0.56123	T	-0.110524	0.34681	T	-0.396536	0.33787	T	0.896629929542542	0.54838	D	0.955704	0.83186	D	0.2773344	0.50791	0.19634472	0.43359	0.2773344	0.50791	0.19634472	0.43358	-4.913	0.38180	T	.	.	0.079	0.14062	B	.;.;.	.;.;.	3.108157	0.41911	21.4	0.97937902025342172	0.37006	0.88073	0.47844	D	AEFDGBCI	0.715374	0.66755	D	-0.200607072167161	0.33109	1.874745	-0.00649599446856139	0.39420	2.337073	0.999993505441664	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.67	4.54	0.55220	5.363000	0.65856	6.760000	0.56533	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.8488:0.0:0.0:0.1512	9.953	0.40819	967	0.07127	.;.;Peptidase M17, leucyl aminopeptidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	37	chr20	58713966	.	A	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=742;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.939;SOR=0.455	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr20	58854542	58854577	CAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCC	-	exonic	GNAS	.	nonframeshift deletion	GNAS:NM_001077490:exon1:c.1090_1125del:p.Q371_G382del,GNAS:NM_001309883:exon1:c.1090_1125del:p.Q371_G382del,GNAS:NM_080425:exon1:c.1277_1312del:p.A436_P447del	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	2	1513	7	0	0	7	0.00230795	.	.	.	3214757	GNAS-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs745913170	9.197e-05	9.166e-05	8.086e-05	0.0001	0.0012	7.891e-05	7.424e-05	0.0006	0.0004	0	9.574e-05	0	2.654e-05	0	0.0012	7.177e-05	0.0001	0.0004	0.0001	0.0001	0.0002	2.937e-05	0.0004	6.029e-05	4.856e-05	0.0001	8.87e-05	3.018e-05	0	0.0004	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	703.29	38	chr20	58854541	.	GCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCC	G	703.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=708;ExcessHet=0;FS=7.115;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-2.295;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	18	0	1	0
chr20	58996662	58996662	G	A	exonic	CTSZ	.	nonsynonymous SNV	CTSZ:NM_001336:exon5:c.C778T:p.R260W	.	410	1111	1	0	0	1	0.000449843	.	.	.	3661438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.157098838933	.	.	7.413e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs759602283	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0002	3.025e-05	2.719e-05	0.0001	8.646e-05	0	0	0	2.519e-05	0	0.0002	2.878e-05	0.0001	0.0002	1.973e-05	1.97e-05	2.571e-05	1.346e-05	6.546e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.833e-05	0	6.546e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055139	1	0.81001	D	4.29	0.98219	H	0.68	0.51952	T	-7.41	0.94786	D	0.946	0.95374	0.271	0.87092	D	0.454	0.78703	T	10	0.95139843	0.94478	D	0.157099	0.83775	D	0.628	0.85666	0.784	0.90768	0.818887239766	0.81717	0.9737091948067886	0.97360	0.982560398105	0.73794	0.728463768959	0.71282	T	0.906124	0.98196	D	0.110316	0.65384	D	0.216877	0.84016	D	0.996336102485657	0.89135	D	0.999727	0.99933	D	0.92354316	0.93595	0.7874074	0.87485	0.92354316	0.93595	0.7874074	0.87486	-18.477	0.99690	D	.	.	0.877	0.81277	P	.	.	5.334479	0.89519	30	0.99902594645946485	0.97426	0.98010	0.78847	D	AEFDBHCI	0.890883	0.82633	D	0.745703424533686	0.82625	7.808931	0.596301503243908	0.74675	6.177394	0.999999997797651	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.43	4.47	0.53770	4.848000	0.62573	8.555000	0.77544	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.1333:0.8667:0.0	16.209	0.81965	987	0.02648	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	2985.33	218	chr20	58996662	.	G	A	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=888;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.214;SOR=0.878	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1301	18	0	1	0
chr20	59007078	59007078	-	AGCAGCACG	exonic	CTSZ	.	nonframeshift insertion	CTSZ:NM_001336:exon1:c.50_51insCGTGCTGCT:p.L17_A18insVLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	0.0001537	4	26028	rs767108602	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0070	0.0066	0.0078	0.0004	0	0	0	0.0005	1.917e-06	0.0008	0	0.0019	0.0019	0.0021	0.0018	0.0068	0.0018	0.0017	0.0061	0.0059	0.0068	0	0.0007	0	0	0	0	1.471e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	580.32	19	chr20	59007078	.	C	CAGCAGCACG	580.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=285;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.49;ReadPosRankSum=-0.684;SOR=1.061	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	18	0	1	0
chr20	59864336	59864336	G	A	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon45:c.C4568T:p.S1523F	.	463	1058	1	0	0	1	0.000472367	.	.	.	2272601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0197167676408	.	.	4.779e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs768892525	5.505e-06	6.157e-06	2.739e-06	8.298e-06	9.407e-05	2.37e-06	1.71e-06	4.635e-05	3.413e-05	0	0	0	0	0	0	0	0	9.407e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.011	0.64786	D	0.32	0.32998	B	0.192	0.36449	B	0.521454	0.05205	N	1.282320	1	0.08975	N	0.55	0.14455	N	2.43	0.15261	T	-1.08	0.28084	N	0.148	0.17140	-0.9739	0.36366	T	0.028	0.11971	T	10	0.07434583	0.11351	T	0.019717	0.42154	T	0.021	0.04004	0.299	0.26522	0.043077524339	0.03247	0.10289514516777293	0.10219	0.034822333106	0.03667	0.321220219135	0.13606	T	0.12547	0.45120	T	-0.403529	0.02195	T	-0.55299	0.17040	T	0.0804137075007595	0.10040	T	0.427957	0.11563	T	0.059517864	0.12107	0.07400295	0.16143	0.059517864	0.12107	0.07400295	0.16143	-4.829	0.34928	T	.	.	0.189	0.41813	B	.;.	.;.	1.750046	0.22263	15.55	0.88194594402569981	0.17788	0.19065	0.20514	N	AEFI	0.079469	0.16051	N	-0.741783884376183	0.14858	0.7437256	-0.759735376203856	0.15483	0.8145423	5.50943871800372E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	0.793	0.17776	0.966000	0.28929	1.369000	0.25941	0.618000	0.50648	0.637000	0.28059	0.319000	0.24313	0.607000	0.31564	0.0788:0.1341:0.5114:0.2757	4.364	0.10653	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	707.33	33	chr20	59864336	.	G	A	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.05;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	18	0	1	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A	.	459	1049	11	3	0	17	0.00803783	.	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017623	0.000000	0.020380	0.023392	0.050000	0.051724	0.012195	0.011364	0.02632	1644.33	37	chr20	59892042	.	T	G	1644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=782;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.223;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016633	0.000000	0.017663	0.023392	0.050000	0.051724	0.012270	0.011364	0.02632	1860.33	34	chr20	59939439	.	C	T	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=793;ExcessHet=0;FS=5.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.599;SOR=1.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	18	0	1	0
chr20	60012548	60012548	C	G	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_001348204:exon4:c.C193G:p.L65V,CDH26:NM_021810:exon6:c.C316G:p.L106V,CDH26:NM_177980:exon18:c.C2317G:p.L773V	.	427	1051	43	1	0	45	0.0209595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0018	0.00798722	0.0054	0.0002	0.0010	0	0	0.0021	0.0077	0.03	0.0049223	761	154602	rs142001408	0.0029	0.0029	0.0021	0.0036	0.0269	0.0028	0.0028	0.0259	0.0256	0.0002	0.0011	0.0020	5.039e-05	9.36e-05	0.0106	0.0014	0.0026	0.0269	0.0019	0.0019	0.0015	0.0023	0.0270	0.0017	0.0017	0.0232	0.0218	0.0003	0	0.0006	0.0017	0.0002	0	0.0136	0.0019	0.0028	0.0270	0.691	0.36709	T	0.237	0.92824	T	0.998	0.73220	D	0.88	0.65091	P	.	.	.	.	1	0.08975	N	.	.	.	0.32	0.75911	T	-0.29	0.32991	N	0.062	0.17278	-0.6323	0.63473	T	0.438	0.77708	T	8	0.0040251613	0.00078	T	.	.	.	0.119	0.33137	.	.	0.280181792013	0.27631	0.1316821982360792	0.13093	0.369338729039	0.38458	0.251678436995	0.03947	T	.	.	.	-0.45362	0.01075	T	-0.403421	0.32988	T	0.016949572632361	0.00446	T	0.468753	0.13831	T	0.054678217	0.10523	0.05006095	0.07778	0.054678217	0.10522	0.05006095	0.07778	-3.895	0.27327	T	.	.	0.079	0.24329	B	.;.;.	.;.;.	0.472862	0.08423	5.181	0.98745391950640393	0.45572	0.09523	0.15260	N	AEFDBCI	0.056347	0.10411	N	-0.307637999369078	0.28858	1.595234	-0.510783118436354	0.21860	1.184581	0.14143907576024	0.17280	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	3.68	2.74	0.31352	0.200000	0.17055	0.456000	0.18569	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.8791:0.0:0.1209	7.254	0.25339	983	0.02875	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.008152	0.017544	0.000000	0.000000	0.012195	0.030303	0.02632	951.33	87	chr20	60012548	.	C	G	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.628;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	18	0	1	0
chr20	61928385	61928385	C	A	exonic	CDH4	.	nonsynonymous SNV	CDH4:NM_001252338:exon11:c.C1856A:p.A619E,CDH4:NM_001252339:exon11:c.C1745A:p.A582E,CDH4:NM_001794:exon12:c.C1967A:p.A656E	.	434	1085	3	0	0	3	0.00138058	.	.	.	2202850	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0188600673724	0.0007	.	0.0004	0	8.703e-05	0	0	0.0006	0	0.0007	0.0003299	51	154602	rs150782695	0.0004	0.0004	0.0004	0.0005	0.0009	0.0004	0.0004	0.0008	0.0007	5.974e-05	0.0002	7.657e-05	0	5.875e-05	0.0003	0.0004	0.0003	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.412e-05	0	6.543e-05	0	0	0	0	0.0006	0	0.0002	0.409	0.10180	T	0.965	0.03956	T	0.653	0.40782	P	0.209	0.37260	B	0.037720	0.24369	N	0.467778	1	0.08975	N	0.765	0.19305	N	0.23	0.59717	T	-1.36	0.33798	N	0.256	0.29774	-0.9616	0.38877	T	0.163	0.49864	T	9	0.049467087	0.04540	T	0.01886	0.41058	T	0.109	0.30843	.	.	0.55633959054	0.55293	0.3018184127709489	0.30094	.	.	0.350638896227	0.18015	T	0.066307	0.32912	T	-0.41565	0.01824	T	-0.42902	0.30045	T	0.0407535898741781	0.03827	T	0.883612	0.60617	D	0.14554733	0.33360	0.19929965	0.43804	0.149452	0.34071	0.27014008	0.52901	-5.893	0.45375	T	0.2571943331536067	0.34760	0.117	0.24260	B	.;.;.	.;.;.	1.498203	0.19264	14.17	0.68134448534722936	0.08565	0.54755	0.29694	D	AEFDGBI	0.207092	0.33330	N	-0.450777343025857	0.23713	1.275375	-0.54364331287358	0.20974	1.132506	0.970915186234873	0.29245	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.83	3.85	0.43556	0.859000	0.27513	0.575000	0.19646	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.8552:0.1448:0.0	14.849	0.69914	940	0.13648	Cadherin-like;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1982.33	48	chr20	61928385	.	C	A	1982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.28;DP=843;ExcessHet=0;FS=3.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.623;SOR=1.075	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	18	0	1	0
chr20	61998995	61998995	C	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon12:c.G2901T:p.M967I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0128060802578	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987356346	2.737e-06	3.42e-06	0	5.502e-06	0.0003	6.4e-07	4.3e-07	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.031	0.53788	D	0.145	0.27759	B	0.111	0.31539	B	0.000004	0.62929	D	0.102237	0.999993	0.58761	D	1.525	0.38595	L	1.92	0.23082	T	-1.13	0.29114	N	0.767	0.76481	-1.0931	0.05036	T	0.045	0.19478	T	10	0.54179275	0.63761	D	0.012806	0.31705	T	0.218	0.51265	0.492	0.57890	0.444038270253	0.44025	0.14204870247523052	0.14127	1.06551080451	0.76615	0.731590807438	0.71738	T	0.179553	0.53058	T	-0.0828731	0.39245	T	-0.356818	0.38420	T	0.820408761501312	0.47803	D	0.940673	0.77758	D	0.2046666	0.42584	0.17814706	0.40464	0.2046666	0.42584	0.17814706	0.40463	-7.829	0.59899	D	.	.	0.978	0.90682	P	.	.	4.240643	0.64293	24.7	0.92424422540435225	0.21841	0.96733	0.70648	D	AEFGBI	0.525248	0.54810	D	-0.501768297801255	0.22022	1.173035	-0.4109764820712	0.24676	1.352546	0.999865698171024	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	3.23	0.36150	5.593000	0.67242	7.486000	0.59313	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.1381:0.7895:0.0:0.0724	10.002	0.41105	934	0.15400	Transcription initiation factor TFIID component TAF4|Transcription initiation factor TFIID component TAF4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	904.33	41	chr20	61998995	.	C	A	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=790;ExcessHet=0;FS=0.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.211;SOR=0.906	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1227	18	0	1	0
chr20	62065176	62065176	G	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.C635T:p.A212V	.	435	1083	4	0	0	4	0.00184332	.	.	.	3547285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0566155806715	.	0.000399361	0.0035	0.0019	0.0045	0.001	0	0.0073	0	0.0004	0.0007438	115	154602	rs201112070	0.0025	0.0021	0.0025	0.0024	0.0027	0.0024	0.0024	0.0026	0.0026	0.0003	0.0011	0.0043	0	0.0003	0.0016	0.0027	0.0027	0.0004	0.0017	0.0017	0.0017	0.0017	0.0027	0.0015	0.0015	0.0023	0.0022	0.0004	0.0079	0.0017	0.0036	0	0.0004	0.0039	0.0027	0.0015	0.0006	0.15	0.24661	T	0.255	0.23365	T	0.003	0.11197	B	0.002	0.06944	B	0.111926	0.02647	U	4.961650	0.999363	0.21303	N	0.55	0.14455	N	1.86	0.24285	T	-0.4	0.13805	N	0.227	0.25499	-1.0305	0.20292	T	0.039	0.16806	T	10	0.007672459	0.00174	T	0.056616	0.66668	D	0.053	0.14996	.	.	0.292174397486	0.28832	0.3520281414945147	0.35116	0.685142282338	0.60270	0.770441055298	0.77490	T	0.077684	0.35715	T	-0.494089	0.00617	T	-0.487739	0.23628	T	0.00394148750480056	0.00042	T	0.460354	0.13329	T	0.046474624	0.07784	0.060343266	0.11476	0.046474624	0.07783	0.060343266	0.11475	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.559435	0.33143	19.25	0.97531671024508959	0.34464	0.21439	0.21402	N	AEFDGBHCI	.	.	.	-0.863622588189113	0.11716	0.5669498	-0.807712308395829	0.14309	0.7469884	0.99999999996596	0.74766	0.608746	0.35421	0	0.552344	0.17405	0	0.731467	0.93227	0	0.56751	0.32155	0	.	.	1.78	1.78	0.23918	2.634000	0.46194	4.781000	0.44836	0.133000	0.17659	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.3061:0.0:0.6939:0.0	5.293	0.15049	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004018	0.000000	0.001416	0.003623	0.000000	0.000000	0.010870	0.008475	0.02632	143.33	10	chr20	62065176	.	G	A	143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=0.435;SOR=0.743	GT:AD:DP:GQ:PL	0/1:13,9:22:99:157,0,256	18	0	1	0
chr20	62193563	62193563	G	A	exonic	MTG2	.	nonsynonymous SNV	MTG2:NM_001384347:exon2:c.G143A:p.R48H,MTG2:NM_001384348:exon2:c.G143A:p.R48H,MTG2:NM_015666:exon2:c.G143A:p.R48H	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0023	9.728e-05	8.741e-05	0.0001	0.0002	1.517e-05	0	0.0163	0.0019469	301	154602	rs557922648	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0139	0.0136	2.988e-05	2.237e-05	0	7.557e-05	1.874e-05	0.0004	1.259e-05	0.0011	0.0145	0.0004	0.0004	0.0002	0.0006	0.0133	0.0004	0.0003	0.0107	0.0097	0	0	6.534e-05	0	0	0.0002	0	0	0	0.0133	0.012	0.68238	D	0.255	0.24264	T	0.045	0.21781	B	0.002	0.06944	B	0.864000	0.08874	N	0.944907	1	0.08975	N	0.805	0.20218	L	2.76	0.17596	T	-0.47	0.15178	N	0.132	0.12770	-1.0083	0.27448	T	0.022	0.09467	T	10	0.0046619475	0.00098	T	.	.	.	0.089	0.25827	0.543	0.65589	0.0954503805726	0.09146	0.19073484525887935	0.18991	0.260024050309	0.28572	0.298047691584	0.10112	T	0.001984	0.01394	T	-0.590283	0.00167	T	-0.607704	0.12172	T	0.0194396315537178	0.00648	T	0.442956	0.12306	T	0.029123012	0.02357	0.028049622	0.01006	0.029123012	0.02357	0.028049622	0.01006	-5.111	0.38023	T	.	.	0.074	0.04975	B	.;.	.;.	0.526836	0.08954	5.737	0.98862823415330647	0.47493	0.06146	0.12126	N	AEFDGBI	0.071579	0.14255	N	-0.933899440234844	0.10056	0.4787814	-0.944856985311645	0.11042	0.5601414	0.998599918025851	0.37268	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.17	0.696	0.17237	0.547000	0.23007	-1.686000	0.04916	-0.108000	0.15293	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.0817:0.2675:0.5043:0.1465	4.472	0.11136	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1076.33	37	chr20	62193563	.	G	A	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.551;DP=742;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.04;SOR=0.536	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1392	18	0	1	0
chr20	62281110	62281110	A	G	exonic	OSBPL2	.	nonsynonymous SNV	OSBPL2:NM_001278649:exon8:c.A451G:p.I151V,OSBPL2:NM_014835:exon8:c.A691G:p.I231V,OSBPL2:NM_144498:exon8:c.A727G:p.I243V,OSBPL2:NM_001363878:exon9:c.A451G:p.I151V	Deafness, autosomal dominant 67, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2123206	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.204	0.0196385737366	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs766793194	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31235	T	0.174	0.39645	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	1.05	0.39990	T	-0.92	0.25986	N	0.474	0.51405	-0.5042	0.68497	T	0.268	0.63992	T	10	0.607887	0.67278	D	0.019639	0.42054	T	0.204	0.49076	0.623	0.75803	0.45865379765	0.45492	0.5819008037684601	0.58119	1.17068924489	0.79760	0.673457086086	0.63330	T	0.077043	0.35561	T	-0.036282	0.46500	T	-0.289893	0.45783	T	0.831858277320862	0.48675	D	0.963904	0.87759	D	0.6343265	0.74529	0.49394652	0.70731	0.6343265	0.74530	0.49394652	0.70732	-7.948	0.61587	D	.	.	0.381	0.62816	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.149162	0.62223	24.4	0.99888049177790939	0.96281	0.98646	0.85092	D	AEFDGBI	0.902120	0.84962	D	0.728209500199292	0.81481	7.532449	0.690096830989699	0.81628	7.571002	0.999999967498001	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	7.378000	0.78957	6.879000	0.56809	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.573	0.67819	819	0.41190	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1307.33	34	chr20	62281110	.	A	G	1307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.218;SOR=0.682	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1390	18	0	1	0
chr20	62308735	62308735	G	A	exonic	ADRM1	.	nonsynonymous SNV	ADRM1:NM_001281437:exon9:c.G1081A:p.E361K,ADRM1:NM_001281438:exon9:c.G1081A:p.E361K,ADRM1:NM_007002:exon10:c.G1198A:p.E400K,ADRM1:NM_175573:exon10:c.G1198A:p.E400K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0253857402918	.	0.000399361	3.376e-05	0	8.746e-05	0.0002	0	0	0	6.083e-05	3.88e-05	6	154602	rs140787599	9.717e-06	9.657e-06	1.105e-05	8.367e-06	0.0002	5.64e-06	4.41e-06	0.0001	8.776e-05	0	4.491e-05	0	0.0002	0	0	9.142e-07	0	2.325e-05	3.961e-05	3.951e-05	2.581e-05	5.406e-05	0.0012	1.722e-05	1.134e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.042	0.41637	D	0.274	0.28300	T	0.763	0.43659	P	0.166	0.35067	B	0.000005	0.62929	D	0.140575	1	0.81001	D	.	.	.	.	.	.	-1.04	0.27259	N	0.469	0.51405	-0.9441	0.41960	T	0.100	0.37290	T	9	0.06895754	0.09826	T	0.025386	0.48361	D	0.170	0.43303	.	.	0.524456804389	0.52091	0.19640986101913974	0.19557	0.126043349698	0.14207	0.547479152679	0.45502	T	0.053731	0.29526	T	-0.143059	0.29405	T	-0.142947	0.59861	T	0.300437450408936	0.25022	T	0.955304	0.82980	D	0.2572614	0.48769	0.17864387	0.40548	0.2572614	0.48769	0.17864387	0.40547	-9.227	0.69146	D	.	.	0.172	0.45396	B	.;.;.	.;.;.	4.076293	0.60605	24.2	0.99897649499354313	0.97048	0.96760	0.70792	D	AEFDGBHCI	0.929240	0.91469	D	0.271320555128783	0.54701	3.63501	0.40577222864607	0.61922	4.399546	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	7.591000	0.81934	9.756000	0.81491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	19.506	0.95108	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1504.33	34	chr20	62308735	.	G	A	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.175;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.002;SOR=0.73	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr20	62310424	62310424	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10595T:p.T3532I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0862712514321	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260353715	6.891e-07	1.368e-06	0	1.386e-06	1.179e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.09896	T	0.526	0.10245	T	0.144	0.27697	B	0.022	0.19653	B	0.293401	0.14727	U	0.629846	0.99995	0.19072	N	1.32	0.33002	L	-1.23	0.78860	T	-2.6	0.55983	D	0.252	0.28498	-0.9055	0.47389	T	0.250	0.61958	T	10	0.12562633	0.23875	T	0.086271	0.74702	D	0.213	0.50496	0.492	0.57890	0.85781648375	0.85644	0.4537241325232917	0.45290	.	.	0.448074281216	0.31681	T	0.207334	0.56694	T	-0.00865934	0.50452	T	-0.250215	0.49795	T	0.121613993796768	0.14586	T	0.50475	0.15921	T	0.07153752	0.15846	0.097236216	0.23135	0.07153752	0.15845	0.097236216	0.23135	-5.432	0.41226	T	.	.	0.137	0.29806	B	.	.	1.616122	0.20649	14.85	0.66857069435240357	0.08182	0.14168	0.18259	N	AEFDBHCI	0.078089	0.15749	N	-0.780733435939456	0.13812	0.6832019	-0.76827986487931	0.15274	0.8024847	0.999981094072748	0.51787	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	3.09	0.34677	0.136000	0.15794	3.029000	0.36034	0.674000	0.70861	0.002000	0.15269	0.999000	0.35428	0.031000	0.13245	0.0843:0.1883:0.7273:0.0	8.576	0.32761	779	0.47767	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1662.83	37	chr20	62310424	.	G	A	1662.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.86;DP=909;ExcessHet=0.119;FS=0.709;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.58;SOR=0.619	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1665	17	0	2	0
chr20	62310503	62310503	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10516T:p.R3506W	.	403	1106	12	1	0	14	0.00628931	.	.	.	2374032	LAMA5-related_disorder|Inborn_genetic_diseases	.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0334919233534	.	0.000199681	0.0002	0	0.0004	0	0	8.495e-05	0.0027	0.0006	0.0001552	24	154602	rs533441062	0.0001	0.0001	8.866e-05	0.0001	0.0026	9.041e-05	8.509e-05	0.0015	0.0012	0	0.0005	0	0	0	0.0026	4.849e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	7.214e-05	0	0.0009	0	0	0	0	0.0002	0	0.0008	0.066	0.36113	T	0.024	0.56640	D	0.997	0.70673	D	0.446	0.45959	B	0.541681	0.05317	N	1.250980	1	0.08975	N	2.175	0.60977	M	2.05	0.20664	T	-3.05	0.62976	D	0.411	0.45142	-0.9942	0.31512	T	0.058	0.24354	T	10	0.054679066	0.05860	T	0.033492	0.55016	D	0.056	0.15993	0.467	0.53891	0.338449385132	0.33456	0.42126804897189174	0.42042	.	.	0.339464694262	0.16358	T	0.19636	0.55272	T	-0.429112	0.01500	T	-0.500133	0.22333	T	0.0754072055996979	0.09389	T	0.829117	0.49388	T	0.074384496	0.16690	0.08253064	0.18843	0.074384496	0.16690	0.08253064	0.18843	-7.055	0.54435	T	.	.	0.120	0.24800	B	.	.	3.040309	0.40753	21.2	0.99788791021676959	0.87484	0.09359	0.15131	N	AEFDBHCI	0.208683	0.33474	N	-0.248642568077362	0.31158	1.744319	-0.368894836170995	0.25930	1.42906	0.99987059709518	0.44625	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	1.82	0.24209	0.263000	0.18247	2.630000	0.33687	0.674000	0.70861	0.000000	0.06391	0.118000	0.22871	0.558000	0.30364	0.0:0.1343:0.4514:0.4143	9.121	0.35950	779	0.47767	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.002725	0.003012	0.000000	0.000000	0.000000	0.003788	0.02632	739.33	37	chr20	62310503	.	G	A	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=923;ExcessHet=0;FS=9.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.23;SOR=1.315	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1665	18	0	1	0
chr20	62311441	62311441	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon72:c.C9902T:p.P3301L	.	413	1108	1	0	0	1	0.00045106	.	.	.	2824560	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00333744394006	.	0.000199681	6.014e-05	0	0.0003	0	0	7.248e-05	0	0	2.59e-05	4	154602	rs576584555	4.216e-05	4.515e-05	3.981e-05	4.455e-05	0.0002	3.345e-05	3.032e-05	3.653e-05	3.308e-05	3.019e-05	6.984e-05	0	2.571e-05	0	0.0002	4.705e-05	3.346e-05	1.183e-05	5.252e-05	5.249e-05	6.424e-05	4.028e-05	0.0004	2.555e-05	1.829e-05	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0	0	0.0005	0	0.701	0.04162	T	0.791	0.04181	T	0.001	0.07471	B	0.001	0.04355	B	0.458904	0.04858	N	1.331060	1	0.08975	N	0.205	0.09354	N	2.13	0.19588	T	-0.26	0.11185	N	0.078	0.05287	-1.0076	0.27665	T	0.025	0.10733	T	10	0.017113239	0.00363	T	0.003337	0.07451	T	0.004	0.00165	.	.	0.102598925029	0.09809	0.2112922730477748	0.21045	.	.	0.433155477047	0.29640	T	0.033528	0.22951	T	-0.545458	0.00311	T	-0.78462	0.02317	T	0.0169309911884123	0.00444	T	0.370463	0.08742	T	0.0209828	0.00678	0.02714867	0.00847	0.0209828	0.00678	0.02714867	0.00847	-3.954	0.23113	T	.	.	0.071	0.03849	B	.	.	-0.664132	0.01406	0.082	0.55234022002421213	0.05300	0.03891	0.09264	N	AEFDBCI	0.044396	0.07137	N	-2.25858779452492	0.00056	0.002422229	-2.37109122203489	0.00046	0.002014897	0.999999983151231	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.28	-6.57	0.01674	-1.772000	0.01885	-3.678000	0.02611	-1.715000	0.00737	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2975:0.1955:0.31:0.197	0.677	0.00813	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003030	0.005102	0.002725	0.002959	0.000000	0.008621	0.000000	0.003817	0.02632	936.33	37	chr20	62311441	.	G	A	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=931;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.826;SOR=0.61	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,110,1469	18	0	1	0
chr20	62312527	62312527	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon68:c.G9233A:p.R3078Q	.	418	1101	3	0	0	3	0.00136054	.	.	YES	2103469	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	0.0457196826803	0.0002	.	0.0004	0	0.0019	0	0	0.0004	0.0013	6.484e-05	0.000304	47	154602	rs144323773	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0005	0.0006	0.0006	2.989e-05	0.0009	0	0	0	0.0003	0.0006	0.0006	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	9.622e-05	0	0.0004	0	0	0	0	0.0003	0.0005	0.0006	0.035	0.43708	D	0.127	0.35082	T	0.068	0.23728	B	0.009	0.14300	B	0.209884	0.16391	N	0.606409	1	0.08975	N	1.585	0.39878	L	-1.17	0.78199	T	-1.48	0.36189	N	0.147	0.14905	-0.8684	0.50650	T	0.244	0.61272	T	10	0.031110734	0.01243	T	0.04572	0.62114	D	0.152	0.39956	.	.	0.511191291104	0.50759	0.30437492269285527	0.30350	.	.	0.280768305063	0.07600	T	0.131421	0.46090	T	-0.356298	0.04343	T	-0.39554	0.33903	T	0.0115965405389462	0.00176	T	0.714029	0.32612	T	0.06012361	0.12302	0.06204132	0.12076	0.06012361	0.12301	0.06204132	0.12075	-7.136	0.55020	T	.	.	0.062	0.01367	B	.	.	0.861405	0.12337	8.878	0.97329165330942813	0.33413	0.03659	0.08916	N	AEFDGBCI	0.067184	0.13194	N	-1.16057667527633	0.05608	0.2561006	-1.23557571033779	0.05348	0.2545924	0.999842002448578	0.43971	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.36	-1.44	0.08391	-0.321000	0.08060	-5.727000	0.01616	-0.321000	0.05860	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2171:0.267:0.0:0.516	5.105	0.14111	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	136	chr20	62312527	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=981;ExcessHet=0;FS=4.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.126;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1575:.	18	0	1	0
chr20	62312901	62312901	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon66:c.C9065T:p.S3022L	.	393	1128	1	0	0	1	0.000443066	.	.	.	1600655	Inborn_genetic_diseases|LAMA5-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0620787326221	.	0.000798722	0.0006	0	8.832e-05	0	0	4.91e-05	0	0.0060	0.0005692	88	154602	rs546335527	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	3.03e-05	6.953e-05	0	5.085e-05	0	0.0014	8.212e-06	0.0004	0.0052	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	9.231e-05	0.0024	0.0020	4.81e-05	0	0	0	0	0	0	4.409e-05	0.0005	0.0037	0.271	0.15984	T	0.059	0.45961	T	0.032	0.20242	B	0.027	0.21085	B	0.363869	0.04320	U	1.493010	1	0.08975	N	1.1	0.28011	L	-1.31	0.79666	T	-1.98	0.45769	N	0.236	0.26596	-0.6908	0.60871	T	0.403	0.75352	T	10	0.0080138445	0.00182	T	0.062079	0.68539	D	0.229	0.52916	0.589	0.71749	0.536312930822	0.53281	0.2978594882413681	0.29698	.	.	0.422438919544	0.28172	T	0.162972	0.50785	T	-0.406543	0.02096	T	-0.354552	0.38683	T	0.0324325746514679	0.02377	T	0.720728	0.33361	T	0.086698174	0.20163	0.05929975	0.11104	0.086698174	0.20162	0.05929975	0.11103	-3.68	0.19023	T	.	.	0.098	0.16275	B	.	.	1.724520	0.21953	15.42	0.98984632935525918	0.49800	0.09196	0.15000	N	AEFDGBCI	0.079065	0.15964	N	-0.698451932233998	0.16065	0.8152649	-0.695996003513139	0.17061	0.9054323	0.999557627676994	0.40362	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.64	3.69	0.41483	2.097000	0.41373	3.752000	0.39687	0.606000	0.46413	0.024000	0.20007	0.665000	0.26036	0.029000	0.12982	0.0843:0.0:0.9157:0.0	12.350	0.54469	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1427.33	43	chr20	62312901	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=833;ExcessHet=0;FS=11.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.341;SOR=0.501	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	18	0	1	0
chr20	62318482	62318482	C	G	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7211C:p.R2404P	.	402	1111	3	0	6	9	0.00134831	.	.	.	742501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.064	.	.	0.0081869	0.0033	0.0003	8.731e-05	0	0.0003	4.635e-05	0	0.0231	0.002846	440	154602	rs144740011	0.0014	0.0014	0.0008	0.0020	0.0227	0.0014	0.0014	0.0219	0.0215	0.0001	0	0	2.522e-05	6.111e-05	0.0007	2.973e-05	0.0015	0.0227	0.0008	0.0009	0.0005	0.0012	0.0255	0.0007	0.0007	0.0218	0.0204	4.955e-05	0	0	0	0	9.696e-05	0	1.491e-05	0.0010	0.0255	0.23	0.18308	T	0.211	0.26631	T	0.299	0.32525	B	0.223	0.37929	B	0.210410	0.16379	U	0.536654	0.994869	0.23425	N	2.34	0.67151	M	2.9	0.10101	T	-2.09	0.47683	N	0.574	0.59648	-1.0054	0.28337	T	0.022	0.09284	T	10	0.0071923435	0.00164	T	.	.	.	0.064	0.18567	0.655	0.79276	0.448331077784	0.44456	0.663603910566165	0.66297	.	.	0.598313808441	0.52666	T	0.054004	0.29602	T	-0.561768	0.00248	T	-0.562797	0.16115	T	0.0334827145822502	0.02551	T	0.644935	0.25655	T	0.39162743	0.60147	0.3035783	0.56388	0.39162743	0.60148	0.3035783	0.56387	-7.835	0.59940	D	.	.	0.458	0.62606	A	.	.	1.750001	0.22263	15.55	0.99169232052885159	0.54326	0.23062	0.21953	N	AEFDGBHCI	0.289308	0.40099	N	-0.547531695042151	0.20561	1.084803	-0.504434448532143	0.22033	1.194716	0.999988371951661	0.51787	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	3.67	0.543	0.16370	0.667000	0.24794	-2.045000	0.04296	-0.914000	0.02241	0.694000	0.28569	0.000000	0.08366	0.907000	0.44265	0.3198:0.3562:0.0:0.324	3.195	0.06235	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	508.33	37	chr20	62318482	.	C	G	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.208;SOR=0.6	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr20	62318641	62318641	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7052A:p.R2351Q	.	413	1051	53	5	0	63	0.0290993	.	.	YES	705598	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0023	0.00958466	0.0085	0	0.0069	0.0004	0.0039	0.0057	0.0097	0.0311	0.0070504	1090	154602	rs147290767	0.0053	0.0053	0.0046	0.0061	0.0308	0.0052	0.0052	0.0299	0.0295	0.0004	0.0052	0.0073	0.0001	0.0034	0.0158	0.0036	0.0061	0.0308	0.0043	0.0043	0.0036	0.0049	0.0342	0.0040	0.0039	0.0299	0.0283	0.0005	0	0.0075	0.0058	0.0006	0.0034	0.0136	0.0040	0.0043	0.0342	0.026	0.46910	D	0.045	0.49390	D	0.992	0.64738	D	0.821	0.59116	P	0.000000	0.84330	U	0.000000	0.998701	0.45307	D	2.545	0.74286	M	2.78	0.11298	T	-1.81	0.42575	N	0.163	0.17140	-1.1561	0.00855	T	0.030	0.13111	T	10	0.008121192	0.00184	T	.	.	.	0.118	0.32913	.	.	0.471127988307	0.46741	0.38419175581598297	0.38334	.	.	0.559405207634	0.47184	T	0.061476	0.31665	T	-0.54444	0.00315	T	-0.531829	0.19105	T	0.0427624365142941	0.04194	T	0.669833	0.27843	T	0.1482019	0.33845	0.12100943	0.29200	0.1482019	0.33844	0.12100943	0.29199	-2.792	0.08110	T	.	.	0.082	0.08899	B	.	.	0.950625	0.13269	9.768	0.99899322235197996	0.97124	0.28875	0.23672	N	AEFDGBHCI	0.176582	0.30380	N	-0.309134395916353	0.28799	1.59159	-0.518950088372253	0.21639	1.171539	0.999997808372358	0.74766	0.67177	0.52595	0	0.626922	0.53725	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.46	1.46	0.21769	0.147000	0.16021	-3.092000	0.03068	-0.201000	0.08892	0.005000	0.17040	0.000000	0.08366	0.331000	0.25224	0.0:0.8078:0.0:0.1922	8.916	0.34740	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017189	0.010309	0.010899	0.005882	0.000000	0.034483	0.021605	0.041667	0.02632	582.33	36	chr20	62318641	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.733;SOR=0.704	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr20	62322666	62322666	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon46:c.C6157T:p.R2053C	.	457	1063	1	1	0	3	0.00140911	.	.	.	1708713	Bent_bone_dysplasia_syndrome_2|LAMA5-related_disorder|not_provided	MONDO:MONDO:0859573,MedGen:C5774233,OMIM:620076|.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0666392876014	0.0003	0.000798722	0.0012	0.0029	0.0037	0.0024	0	0.0008	0.0071	0.0010	0.0003363	52	154602	rs201815547	0.0010	0.0009	0.0010	0.0010	0.0019	0.0009	0.0009	0.0016	0.0015	0.0005	0.0005	0	0.0005	9.676e-05	0.0005	0.0010	0.0009	0.0019	0.0006	0.0006	0.0007	0.0006	0.0016	0.0005	0.0005	0.0007	0.0006	0.0005	0	0.0002	0	0	0	0	0.0009	0.0005	0.0016	0.02	0.49613	D	0.002	0.79402	D	0.999	0.77913	D	0.873	0.61978	P	0.004660	0.33526	U	0.294485	1	0.81001	D	3.435	0.92070	M	1.19	0.37578	T	-6.24	0.90530	D	0.38	0.42149	-0.1005	0.80086	T	0.299	0.66998	T	10	0.06264317	0.08040	T	0.066639	0.69935	D	0.292	0.61157	.	.	0.647156567392	0.64423	0.5443504289801174	0.54361	.	.	0.314278513193	0.12554	T	0.181915	0.53374	T	-0.23913	0.15461	T	-0.146349	0.59566	T	0.813380658626556	0.47288	D	0.941606	0.78180	D	0.6605586	0.75929	0.47815153	0.69770	0.6605586	0.75930	0.47815153	0.69770	-11.459	0.82116	D	.	.	0.207	0.43311	B	.	.	4.107944	0.61310	24.3	0.99903462451633462	0.97502	0.88635	0.48656	D	AEFDBCI	0.784413	0.71511	D	0.622090595794827	0.74575	6.155779	0.457637773644463	0.65210	4.79495	0.999999967123161	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.12	4.12	0.47504	3.568000	0.53564	4.955000	0.46306	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	15.561	0.75984	774	0.48577	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002309	0.000000	0.001453	0.000000	0.000000	0.000000	0.003704	0.004274	0.02632	212.37	11	chr20	62322666	.	G	A	212.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=212;ExcessHet=0;FS=0;InbreedingCoeff=-0.0299;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.92;SOR=0.446	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,506	18	0	1	0
chr20	62327984	62327984	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon36:c.G4679A:p.R1560H	.	411	1108	3	0	0	3	0.00135196	.	.	.	1521356	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.270	0.113146520472	0.0002	0.000199681	0.0003	0.0001	0	0.0001	0	0.0005	0	0.0001	0.0002781	43	154602	rs137986729	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0011	0.0009	0	2.237e-05	0.0055	0.0002	0	0.0020	6.925e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.238e-05	5.845e-05	4.241e-05	7.223e-05	0	0.0002	0.0029	0	0	0	0.0001	0	0	0.01	0.56456	D	0.01	0.65728	D	0.983	0.60381	D	0.507	0.47859	P	0.000003	0.62929	D	0.057547	0.993501	0.41961	D	1.945	0.52268	M	0.09	0.61443	T	-2.81	0.59389	D	0.482	0.51672	-0.6464	0.62870	T	0.208	0.56717	T	10	0.044491976	0.03412	T	0.113147	0.79155	D	0.270	0.58507	.	.	0.560265763849	0.55688	0.20157185066150404	0.20074	.	.	0.331132411957	0.15105	T	0.140258	0.47471	T	-0.234917	0.16004	T	-0.269242	0.47895	T	0.105517718310241	0.12953	T	0.623338	0.24021	T	0.21230672	0.43578	0.13674574	0.32706	0.21230672	0.43578	0.13674574	0.32705	-7.339	0.56473	T	.	.	0.109	0.20896	B	.	.	4.425751	0.68583	25.3	0.99954490157436959	0.99969	0.52524	0.29152	D	AEFGBCI	0.146821	0.27035	N	0.373020794440037	0.59965	4.180497	0.349543041504342	0.58480	4.018717	0.938007628617574	0.27323	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	3.131000	0.50210	3.898000	0.40333	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.8562:0.0:0.1438	10.768	0.45508	779	0.47767	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003043	0.000000	0.001362	0.014793	0.000000	0.000000	0.000000	0.000000	0.02632	356.33	39	chr20	62327984	.	C	T	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.721;DP=713;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-2.449;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	18	0	1	0
chr20	62330924	62330924	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon30:c.G3671A:p.R1224H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.123287783346	.	0.000199681	0.0001	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs199705213	1.359e-05	1.3e-05	7.059e-06	2.029e-05	0.0002	8.69e-06	7e-06	5.815e-05	4.345e-05	0	0.0001	0	5.585e-05	2.103e-05	0.0002	1.853e-06	0	0.0001	1.975e-05	1.969e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.101	0.30375	T	0.066	0.44501	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	1	0.81001	D	0.55	0.14455	N	2.16	0.19166	T	-2.59	0.55821	D	0.562	0.58629	-0.9565	0.39825	T	0.133	0.44504	T	10	0.47487438	0.60083	T	0.123288	0.80442	D	0.122	0.33800	.	.	0.66188771341	0.65904	0.6004868528897951	0.59979	.	.	0.697080492973	0.66723	T	0.093834	0.39293	T	-0.287504	0.09888	T	-0.414088	0.31756	T	0.889081656932831	0.53975	D	0.747625	0.36808	T	0.29129186	0.52112	0.14795081	0.34993	0.29129186	0.52112	0.14795081	0.34992	-4.878	0.35487	T	.	.	0.088	0.11461	B	.	.	4.819593	0.78483	26.9	0.99946807784342684	0.99913	0.95730	0.65910	D	AEFDBHCI	0.761788	0.69939	D	0.630572056663608	0.75115	6.249622	0.598506415251382	0.74832	6.204719	0.999999999587099	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.057000	0.64120	5.747000	0.49606	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.630000	0.32157	0.0:1.0:0.0:0.0	18.314	0.90149	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	75	chr20	62330924	.	C	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.007;DP=1515;ExcessHet=0;FS=7.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-2.197;SOR=0.285	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	18	0	1	0
chr20	62412708	62412708	C	T	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon13:c.G1792A:p.E598K	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.00339457	0.0023	9.835e-05	8.679e-05	0	0	0	0	0.0163	0.0019275	298	154602	rs374974562	0.0010	0.0010	0.0005	0.0014	0.0153	0.0009	0.0009	0.0146	0.0144	5.974e-05	0	0	0	0	0.0005	1.169e-05	0.0012	0.0153	0.0005	0.0005	0.0003	0.0007	0.0164	0.0004	0.0004	0.0135	0.0124	2.404e-05	0	0	0	0	0	0	0	0	0.0164	0.027	0.46513	D	0.447	0.13066	T	0.798	0.44840	P	0.221	0.37837	B	0.756024	0.09661	N	0.858966	1	0.08975	N	1.895	0.50365	L	1.84	0.24656	T	-1.98	0.45769	N	0.263	0.29774	-1.0841	0.06572	T	0.041	0.17700	T	10	0.003327012	0.00057	T	.	.	.	0.023	0.04649	0.185	0.09388	0.126345400529	0.12197	0.06739805915997847	0.06677	0.126919247447	0.14302	0.329344391823	0.14834	T	0.008869	0.08111	T	-0.606831	0.00132	T	-0.631474	0.10304	T	0.0161181464263504	0.00389	T	0.627737	0.24333	T	0.087395534	0.20350	0.08618613	0.19951	0.087395534	0.20349	0.08618613	0.19950	-4.372	0.29174	T	.	.	0.067	0.02488	B	.	.	1.251144	0.16477	12.57	0.99353565555249679	0.60697	0.16870	0.19586	N	ALL	0.061640	0.11797	N	-0.695739161130348	0.16142	0.8198456	-0.82093840436444	0.13988	0.7286109	0.999999999497592	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.52	2.56	0.29842	0.179000	0.16653	0.874000	0.22338	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.8668:0.0:0.1332	7.293	0.25550	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1224.33	33	chr20	62412708	.	C	T	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.693;DP=736;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.027;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	18	0	1	0
chr20	62475026	62475026	C	T	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.G496A:p.G166S	.	423	1090	9	0	0	9	0.00411147	.	.	.	1576589	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.293	.	8.4e-05	0.00239617	0.0145	0	0	0	0	0	0	0.0543	0.0006598	102	154602	rs141950357	0.0005	0.0006	0.0003	0.0007	0.0077	0.0005	0.0004	0.0071	0.0069	0	0	0	7.321e-05	0.0004	0.0024	9.485e-05	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0093	0.0003	0.0003	0.0072	0.0064	4.809e-05	0	0	0	0	0	0	0.0001	0.0005	0.0093	1.0	0.00964	T	1.0	0.01155	T	0.386	0.34500	B	0.064	0.27215	B	0.966251	0.08190	N	0.982631	0.917171	0.36572	D	1.03	0.25572	L	-4.39	0.97394	D	0.47	0.03090	N	0.092	0.07125	-0.1305	0.79390	T	0.591	0.85373	D	10	0.0076497197	0.00174	T	.	.	.	0.293	0.61272	.	.	0.796836870525	0.79494	0.5553975803686523	0.55466	1.86449222915	0.92438	0.612610340118	0.54685	T	0.499332	0.82040	T	-0.39952	0.02332	T	-0.338697	0.40492	T	0.04967273674702	0.05443	T	0.476552	0.14308	T	0.041679822	0.06182	0.10859924	0.26163	0.064345114	0.13643	0.10604333	0.25503	-3.903	0.22348	T	0.2588918245172238	0.34976	0.075	0.05447	B	.	.	1.356429	0.17649	13.29	0.95476189535360489	0.27032	0.66604	0.33136	D	AEFDBHCI	0.214034	0.33955	N	-1.17979485161635	0.05306	0.2415666	-1.08421086828529	0.08011	0.392052	0.997239734826762	0.35404	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	-1.08	0.09428	1.075000	0.30328	-0.235000	0.10642	-1.085000	0.01553	0.957000	0.33433	0.000000	0.08366	0.852000	0.40310	0.0:0.2692:0.0:0.7308	7.990	0.29394	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003719	0.000000	0.001393	0.006024	0.000000	0.000000	0.003333	0.008130	0.02632	622.33	36	chr20	62475026	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=698;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=2.32;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,22:38:99:636,0,361	18	0	1	0
chr20	62475296	62475296	C	A	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.G226T:p.G76C	.	410	1111	1	0	0	1	0.000449843	.	.	.	2412563	Congenital_heart_defects,_multiple_types,_5	MONDO:MONDO:0060663,MedGen:C4693563,OMIM:617912	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.988195257173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868924022	2.745e-06	3.421e-06	5.219e-06	0	0.0008	7.3e-07	2e-07	0.0002	0.0001	0	0	0	0	0	0.0008	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.062	0.45318	T	0.997	0.70673	D	0.925	0.65999	D	0.017653	0.27670	U	0.251298	1	0.08975	N	2.33	0.66821	M	-4.88	0.98296	D	-1.45	0.35597	N	0.188	0.20528	0.568	0.91469	D	0.922	0.97433	D	10	0.58292025	0.65950	D	0.988195	0.99951	D	0.445	0.74727	0.544	0.65731	0.968538468145	0.96819	0.3841913289139146	0.38334	2.44015564342	0.97316	0.897138595581	0.96116	D	0.718376	0.92021	D	0.139351	0.68264	D	-0.0376082	0.67862	D	0.603046590705741	0.36521	D	0.835416	0.50550	T	0.119996175	0.28245	0.08343687	0.19121	0.119996175	0.28245	0.08343687	0.19121	-4.903	0.35769	T	0.8019735478090587	0.87855	0.126	0.26700	B	.	.	3.886265	0.56514	23.7	0.99259859647962878	0.57188	0.69838	0.34347	D	AEFDBHCI	0.326273	0.42760	N	0.0676747300977212	0.44960	2.760626	-0.0910268316959593	0.35761	2.072728	0.999935759860552	0.46732	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.88	2.6	0.30173	0.521000	0.22601	0.507000	0.19047	0.524000	0.24156	0.429000	0.26401	0.380000	0.24611	0.033000	0.13494	0.0:0.3505:0.291:0.3586	2.330	0.03973	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	36	chr20	62475296	.	C	A	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=774;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.137;SOR=0.491	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	18	0	1	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024267	0.020408	0.029973	0.026316	0.000000	0.000000	0.015432	0.022727	0.02632	1107.33	34	chr20	62754880	.	G	A	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.141;SOR=0.846	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1575	18	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2851.57	17	chr20	62813277	.	A	*	2851.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.066;DP=442;ExcessHet=0.0107;FS=0;InbreedingCoeff=0.4745;MLEAC=1;MLEAF=0.026;MQ=54.91;MQRankSum=1.3;QD=25.69;ReadPosRankSum=1.17;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:30:.:.:0,30,450:.	18	0	1	0
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2365.88	9	chr20	62813313	.	G	*	2365.88	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.28;DP=317;ExcessHet=0.3701;FS=7.461;InbreedingCoeff=0.1087;MLEAC=2;MLEAF=0.125;MQ=52.93;MQRankSum=0;QD=27.83;ReadPosRankSum=0.801;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:11,0:11:0:.:.:0,0,127:.	7	0	1	11
chr20	62879808	62879808	G	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.C6148T:p.L2050F,DIDO1:NM_033081:exon16:c.C6148T:p.L2050F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0195890123713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.464	0.12456	T	0.917	0.50750	P	0.367	0.43430	B	0.005841	0.32475	U	0.000000	1	0.08975	N	1.845	0.48678	L	2.8	0.11082	T	-0.9	0.24244	N	0.232	0.26111	-1.0047	0.28547	T	0.018	0.07329	T	10	0.14698273	0.27858	T	0.019589	0.41992	T	0.018	0.03083	0.192	0.10304	0.198222871337	0.19423	0.1144995690079344	0.11377	0.946704540343	0.72437	0.728477478027	0.71284	T	0.11504	0.43332	T	-0.261687	0.12704	T	-0.613671	0.11689	T	0.337627619504929	0.26529	T	0.442956	0.12306	T	0.055530477	0.10804	0.04682501	0.06612	0.055530477	0.10804	0.04682501	0.06611	-3.589	0.17698	T	.	.	0.080	0.07745	B	.;.	.;.	0.829670	0.12010	8.568	0.97803664723579398	0.36078	0.13334	0.17797	N	AEFDBCI	0.071642	0.14270	N	-0.511669195093745	0.21701	1.153665	-0.65080731042215	0.18196	0.9709895	0.969611362386172	0.29142	0.65757	0.49021	0	0.601575	0.49859	0	0.338622	0.05889	2	0.604282	0.37693	0	.	.	4.6	1.42	0.21524	0.315000	0.19200	1.279000	0.25339	0.592000	0.32167	0.001000	0.13787	0.534000	0.25378	0.002000	0.04165	0.2256:0.0:0.6008:0.1737	4.595	0.11716	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	34	chr20	62879808	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.244;DP=747;ExcessHet=0;FS=2.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.884;SOR=0.966	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	18	0	1	0
chr20	62880996	62880996	G	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.C4960A:p.P1654T,DIDO1:NM_033081:exon16:c.C4960A:p.P1654T	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.0314847099188	7.9e-05	.	1.895e-05	0	0	0	0	3.506e-05	0	0	1.94e-05	3	154602	rs376034435	2.684e-05	2.941e-05	2.602e-05	2.766e-05	0.0003	2.009e-05	1.764e-05	6.098e-05	2.523e-05	0	0	0	0	2.143e-05	0.0003	2.07e-05	0.0001	6.969e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.146	0.32891	T	0.999	0.77913	D	0.945	0.68163	D	0.000644	0.42656	D	0.000000	0.925005	0.36792	D	1.7	0.43825	L	1.89	0.23688	T	-3.27	0.65512	D	0.622	0.79792	-0.9851	0.33808	T	0.120	0.42015	T	10	0.73066294	0.74276	D	0.031485	0.53558	D	0.335	0.65718	.	.	0.322865848456	0.31899	0.5757496820336998	0.57503	0.97207340511	0.73401	0.593065857887	0.51927	T	0.443621	0.78734	T	-0.102396	0.36026	T	-0.269907	0.47829	T	0.822670102119446	0.47971	D	0.584142	0.21248	T	0.30081534	0.52978	0.32292792	0.58229	0.30081534	0.52978	0.32292792	0.58228	-4.703	0.33441	T	.	.	0.351	0.56638	A	.;.	.;.	3.146962	0.42582	21.6	0.9861192134093788	0.43651	0.96229	0.68129	D	AEFDBCI	0.394229	0.47157	N	0.420893409116604	0.62572	4.475295	0.353984967360084	0.58746	4.047305	0.998278873007419	0.36679	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	6.035000	0.70582	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:1.0:0.0	18.970	0.92686	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	34	chr20	62880996	.	G	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=761;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.997;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	18	0	1	0
chr20	62882075	62882086	GCTGCTGTTGTG	-	exonic	DIDO1	.	nonframeshift deletion	DIDO1:NM_001193369:exon16:c.3870_3881del:p.T1291_A1294del,DIDO1:NM_033081:exon16:c.3870_3881del:p.T1291_A1294del	.	415	1067	37	3	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00259585	0.0049	0.0009	0.0029	0	0.0017	0.0045	0.0045	0.0139	0.000461	12	26028	rs374696200	0.0040	0.0040	0.0035	0.0044	0.0154	0.0039	0.0038	0.0147	0.0144	0.0004	0.0026	0.0010	0	0.0016	0.0083	0.0036	0.0033	0.0154	0.0030	0.0030	0.0025	0.0036	0.0166	0.0028	0.0027	0.0137	0.0126	0.0006	0.0011	0.0060	0.0023	0	0.0015	0.0374	0.0032	0.0033	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2550.29	38	chr20	62882074	.	CGCTGCTGTTGTG	C	2550.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.812;DP=948;ExcessHet=0;FS=9.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=-0.091;SOR=0.863	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr20	62909840	62909840	C	G	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon4:c.G1020C:p.W340C,DIDO1:NM_001193370:exon4:c.G1020C:p.W340C,DIDO1:NM_022105:exon4:c.G1020C:p.W340C,DIDO1:NM_033081:exon4:c.G1020C:p.W340C,DIDO1:NM_080796:exon4:c.G1020C:p.W340C,DIDO1:NM_080797:exon4:c.G1020C:p.W340C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136455588266	.	.	7.413e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs781146818	5.472e-05	5.472e-05	2.995e-05	7.975e-05	0.0008	4.476e-05	4.147e-05	0.0007	0.0006	0	0	0	0	0	0	8.093e-06	1.656e-05	0.0008	2.628e-05	2.627e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.408	0.15770	T	0.18	0.29442	T	0.0	0.02946	B	0.0	0.01387	B	0.611243	0.05702	N	1.297410	1	0.08975	N	-1.79	0.00298	N	3.19	0.16492	T	1.4	0.01428	N	0.149	0.29544	-0.9419	0.42314	T	0.011	0.04181	T	10	0.012088567	0.00261	T	0.013646	0.33213	T	0.033	0.08068	0.306	0.27646	0.128874641272	0.12493	0.45961112581704583	0.45879	0.585879872022	0.54213	0.252736538649	0.04061	T	0.042862	0.26319	T	-0.616397	0.00116	T	-0.752102	0.03404	T	0.0384259792099248	0.03407	T	0.20228	0.02325	T	0.046979252	0.07955	0.03756565	0.03437	0.046979252	0.07954	0.03756565	0.03437	-2.164	0.04378	T	.	.	0.112	0.22609	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.254525	0.00479	0.010	0.34358096262894172	0.02097	0.12783	0.17477	N	AEFDBCI	0.068911	0.13615	N	-2.19216323608035	0.00080	0.003421255	-2.26566521991988	0.00079	0.003491077	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	-10.7	0.00191	-2.781000	0.00843	-0.646000	0.08053	-1.487000	0.01050	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4136:0.3558:0.0884:0.1422	4.684	0.12131	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	40	chr20	62909840	.	C	G	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=837;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.084;SOR=0.854	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr20	63202672	63202672	C	G	exonic	YTHDF1	.	nonsynonymous SNV	YTHDF1:NM_017798:exon4:c.G1268C:p.S423T	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00898562	0.0050	0.0002	0.0002	0.0001	0.0002	2.999e-05	0.0066	0.0360	0.0043725	676	154602	rs543957413	0.0020	0.0020	0.0010	0.0030	0.0322	0.0019	0.0019	0.0312	0.0308	0.0001	4.472e-05	0	2.519e-05	0	0.0009	3.687e-05	0.0018	0.0322	0.0010	0.0010	0.0007	0.0014	0.0306	0.0009	0.0008	0.0266	0.0251	0.0001	0	0	0	0	0	0	2.939e-05	0	0.0306	0.048	0.40068	D	0.252	0.23570	T	0.002	0.09854	B	0.016	0.17743	B	0.001938	0.37643	N	0.343298	0.998931	0.81001	D	0.425	0.12573	N	1.57	0.29342	T	-1.32	0.32991	N	0.232	0.26111	-1.0962	0.04583	T	0.061	0.25310	T	10	0.0089793205	0.00203	T	.	.	.	0.054	0.15330	0.296	0.26041	0.082315109003	0.07666	0.37430711384373727	0.37344	0.384353304166	0.39738	0.375573754311	0.21628	T	0.038937	0.25016	T	-0.537614	0.00346	T	-0.519955	0.20298	T	0.0204177699101205	0.00741	T	0.834417	0.50357	T	0.29530033	0.52480	0.18944402	0.42292	0.29530033	0.52480	0.18944402	0.42291	-6.27	0.48485	T	.	.	0.084	0.09481	B	.	.	1.665863	0.21242	15.11	0.98997356912386958	0.50065	0.89870	0.50621	D	AEFDBCI	0.432611	0.49442	N	-0.0924336118702845	0.37723	2.198886	0.0910865228417098	0.44098	2.698246	0.999999599093652	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.220000	0.65099	4.029000	0.41321	0.549000	0.26987	1.000000	0.71638	0.273000	0.24060	0.774000	0.36673	0.0:1.0:0.0:0.0	18.345	0.90261	.	.	YTH domain|YTH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	3027.33	60	chr20	63202672	.	C	G	3027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=919;ExcessHet=0;FS=4.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.984;SOR=0.491	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr20	63250045	63250045	-	A	exonic	NKAIN4	.	stopgain	NKAIN4:NM_152864:exon2:c.81dupT:p.D28*	.	430	1083	7	2	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0.0002	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775737748	3.472e-05	3.489e-05	9.656e-06	6.013e-05	0.0006	2.671e-05	2.411e-05	0.0004	0.0004	0	0	0	0	0	0	0	5.04e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000506	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003817	0.02632	1424.29	38	chr20	63250045	.	C	CA	1424.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.923;DP=837;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.391;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	18	0	1	0
chr20	63295151	63295151	T	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon2:c.T44A:p.L15Q	.	414	1106	1	0	1	2	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.124948773614	.	0.000199681	0.0026	0	0	0	0	0.0001	0	0.0061	0.0004204	65	154602	rs562736407	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.754e-05	3.962e-05	0	0	0.0014	2.681e-05	6.868e-05	0.0039	9.844e-05	9.841e-05	7.706e-05	0.0001	0.0019	5.999e-05	4.874e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0019	0.002	0.72154	D	0.001	0.83351	D	0.838	0.46404	P	0.154	0.34351	B	0.068312	0.21681	U	0.344944	0.999649	0.20796	N	1.935	0.51832	L	-2.4	0.88455	D	-1.1	0.30555	N	0.454	0.49146	-0.4139	0.71586	T	0.422	0.76710	T	10	0.010349393	0.00231	T	0.124949	0.80638	D	0.380	0.69780	.	.	0.945138907413	0.94456	0.06785273740485351	0.06723	0.187536431383	0.21074	0.515042424202	0.40929	T	0.01626	0.13477	T	-0.280383	0.10627	T	-0.175535	0.56936	T	0.0295577430784083	0.01921	T	0.517648	0.16760	T	0.33505303	0.55882	0.30229038	0.56261	0.33505303	0.55882	0.30229038	0.56260	-11.112	0.80711	D	.	.	0.19	0.45726	B	.;.	.;.	2.746574	0.35986	20.1	0.97825216421556571	0.36220	0.54534	0.29639	D	AEFDBCI	0.076055	0.15291	N	-0.163012969332385	0.34681	1.982623	-0.205212424869282	0.31348	1.773257	0.978249739807437	0.29902	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.84	1.74	0.23636	0.313000	0.19165	3.010000	0.35957	0.502000	0.22824	0.001000	0.13787	1.000000	0.68203	0.117000	0.19042	0.0:0.1756:0.0:0.8244	3.913	0.08713	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000526	0.000000	0.001408	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2472.33	40	chr20	63295151	.	T	A	2472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=794;ExcessHet=0;FS=2.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.447;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	0	1	0
chr20	63312873	63312873	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon16:c.C2015T:p.P672L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00938498	0.0150	0	0.0016	0	0	0.0002	0.0198	0.0414	0.0037322	577	154602	rs543098240	0.0024	0.0024	0.0013	0.0035	0.0397	0.0023	0.0023	0.0386	0.0381	0.0002	8.175e-05	0	0.0001	0	0.0007	3.325e-05	0.0024	0.0397	0.0013	0.0013	0.0007	0.0020	0.0392	0.0012	0.0011	0.0346	0.0329	0.0003	0	0	0	0	0	0	0	0.0005	0.0392	0.45	0.08996	T	0.435	0.13993	T	0.013	0.16609	B	0.002	0.06944	B	0.441449	0.04762	N	1.549150	1	0.08975	N	1.185	0.30054	L	0.41	0.57100	T	-1.69	0.40274	N	0.093	0.08646	-1.0548	0.13093	T	0.090	0.34491	T	10	0.0021040142	0.00030	T	.	.	.	0.031	0.07369	0.499	0.58991	0.314417295294	0.31040	0.13493479263700245	0.13417	0.0356117273275	0.03758	0.539911866188	0.44432	T	0.023071	0.17673	T	-0.546069	0.00308	T	-0.527891	0.19497	T	0.00516290885668336	0.00056	T	0.70443	0.31478	T	0.029299466	0.02403	0.04000411	0.04223	0.029299466	0.02403	0.04000411	0.04223	-6.693	0.51758	T	.	.	0.094	0.16099	B	.;.	.;.	0.982131	0.13596	10.13	0.58033798672336745	0.05902	0.04674	0.10353	N	AEFDBIJ	0.054627	0.09948	N	-1.11811450387839	0.06320	0.2906441	-1.15368950147077	0.06702	0.3234847	0.987796732055205	0.31344	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.25	-0.136	0.12815	0.871000	0.27675	0.001000	0.13291	0.454000	0.21428	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.4385:0.2011:0.3603	3.420	0.06960	.	.	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005118	0.000000	0.002755	0.002976	0.000000	0.000000	0.000000	0.011628	0.02632	806.33	42	chr20	63312873	.	C	T	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.041;DP=723;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.975;SOR=0.541	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	18	0	1	0
chr20	63312891	63312891	A	G	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon16:c.A2033G:p.Y678C	.	432	1074	15	1	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	.	0.0035	0.00519169	0.0057	0.0004	0.0138	0	0.0077	0.0098	0.0050	0.0019	0.0030207	467	154602	rs143321165	0.0060	0.0059	0.0061	0.0058	0.0077	0.0059	0.0058	0.0070	0.0067	0.0013	0.0077	0.0017	0	0.0031	0.0063	0.0069	0.0054	0.0015	0.0049	0.0049	0.0050	0.0048	0.0116	0.0046	0.0045	0.0102	0.0096	0.0014	0	0.0116	0.0006	0	0.0024	0	0.0066	0.0128	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002333	0.36766	N	0.234827	0.865874	0.35472	D	3.56	0.93364	H	-1.18	0.78314	T	-7.8	0.95924	D	0.825	0.82057	0.239	0.86565	D	0.451	0.78508	T	10	0.022454858	0.00561	T	.	.	.	0.548	0.81252	.	.	0.886093956355	0.88497	0.6599275125796334	0.65929	0.279783844129	0.30462	0.777445554733	0.78543	T	0.326454	0.69707	T	-0.138765	0.30086	T	0.033025	0.72474	D	0.122558441713475	0.14678	T	0.79772	0.44184	T	0.6529499	0.75521	0.5694097	0.75069	0.6529499	0.75523	0.5694097	0.75070	-7.842	0.59988	D	.	.	0.414	0.62572	A	.;.	.;.	3.632673	0.51469	23.1	0.99628888972054674	0.75898	0.60905	0.31330	D	AEFDBI	0.291155	0.40236	N	0.221844767511009	0.52260	3.401172	0.0283537079105554	0.41037	2.458795	0.999993296026594	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	4.146000	0.57840	6.861000	0.56763	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.251000	0.23288	1.0:0.0:0.0:0.0	9.82	0.40045	.	.	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010780	0.010309	0.015193	0.009091	0.000000	0.027273	0.000000	0.007692	0.02632	1087.33	42	chr20	63312891	.	A	G	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=0.672;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1381	18	0	1	0
chr20	63315409	63315409	C	G	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon20:c.C2494G:p.P832A	.	.	.	.	.	.	.	.	.	.	.	2678245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.24982121479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900945488	1.544e-05	1.573e-05	1.252e-05	1.841e-05	1.912e-05	1.011e-05	8.63e-06	1.229e-05	1.043e-05	0	0	0	0	0	0	1.912e-05	1.686e-05	0	3.942e-05	3.94e-05	7.708e-05	0	8.82e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.008	0.58626	D	0.001	0.83351	D	0.996	0.68779	D	0.876	0.62173	P	0.000000	0.84330	U	0.000000	0.994714	0.42388	D	2.885	0.83555	M	-2.44	0.88767	D	-5.16	0.83422	D	0.276	0.33796	0.486	0.90350	D	0.760	0.91830	D	10	0.47077063	0.59848	T	0.249821	0.89066	D	0.456	0.75483	0.336	0.32491	0.952030100659	0.95152	0.14067888390613079	0.13990	0.253375711592	0.27906	0.559362471104	0.47179	T	0.188209	0.54205	T	0.00328763	0.52107	T	-0.233054	0.51476	T	0.962532043457031	0.66396	D	0.538446	0.18153	T	0.36640894	0.58318	0.30833733	0.56852	0.36640894	0.58319	0.30833733	0.56851	-5.619	0.42965	T	.	.	0.094	0.19357	B	.;.	.;.	3.498605	0.48938	22.7	0.99590367054019979	0.73572	0.56158	0.30046	D	AEFDGBI	0.129058	0.24707	N	0.150003423046279	0.48813	3.088928	0.0428019429065495	0.41726	2.511604	0.999975317025151	0.50053	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	1.472000	0.34984	6.911000	0.56899	0.544000	0.25403	0.978000	0.35038	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	13.392	0.60276	.	.	Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	39	chr20	63315409	.	C	G	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.732;SOR=0.846	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr20	63319083	63319083	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon22:c.C2689T:p.P897S	.	433	1079	10	0	0	10	0.00461255	.	.	.	3307169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00561344173684	0.0002	.	0.0006	0.0001	8.691e-05	0	0	0.0009	0.0011	0.0006	0.0005175	80	154602	rs200164977	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	2.991e-05	0.0004	0.0098	0	0	0.0024	0.0002	0.0009	0.0004	0.0003	0.0003	0.0003	0.0004	0.0002	0.0003	0.0002	6.81e-05	5.092e-05	0	0.0044	0.0002	0.0098	0	0	0	0.0001	0.0010	0.0002	0.19	0.21144	T	0.145	0.35205	T	0.819	0.54666	P	0.334	0.54942	B	0.000171	0.48594	D	0.140481	1	0.08975	N	1.185	0.30054	L	4.5	0.02032	T	-2.89	0.60665	D	0.204	0.22742	-0.9216	0.45334	T	0.009	0.03403	T	10	0.008271068	0.00188	T	0.005613	0.14500	T	0.071	0.20720	.	.	0.257786959452	0.25393	0.1486722946313925	0.14789	0.0376229206276	0.03990	0.524364709854	0.42242	T	0.019398	0.15464	T	-0.447414	0.01169	T	-0.552496	0.17087	T	0.100084526710047	0.12366	T	0.60384	0.22664	T	0.057726633	0.11524	0.08008888	0.18088	0.057726633	0.11524	0.08008888	0.18087	-8.58	0.64957	D	.	.	0.077	0.06387	B	.;.	.;.	0.448904	0.08191	4.926	0.87825934592898192	0.17510	0.07890	0.13880	N	AEFBI	0.103579	0.20749	N	-0.628742977561015	0.18085	0.9360833	-0.795887070540839	0.14595	0.7634494	4.2512773068011E-4	0.06935	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	0.976	0.18846	0.078000	0.14615	0.336000	0.17333	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3157:0.376:0.3083:0.0	7.17	0.24889	.	.	Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2052.33	37	chr20	63319083	.	C	T	2052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.141;DP=854;ExcessHet=0;FS=2.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.288;SOR=0.514	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1357	18	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S,CHRNA4:NM_001256573:exon5:c.G832A:p.G278S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1297.33	66	chr20	63350051	.	C	T	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=2008;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.478;SOR=0.676	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	18	0	1	0
chr20	63407198	63407198	T	G	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon15:c.A1981C:p.I661L,KCNQ2:NM_172106:exon16:c.A2011C:p.I671L,KCNQ2:NM_172108:exon16:c.A1972C:p.I658L,KCNQ2:NM_001382235:exon17:c.A2119C:p.I707L,KCNQ2:NM_172107:exon17:c.A2065C:p.I689L	Epileptic encephalopathy, early infantile, 7, Autosomal dominant;Myokymia, Autosomal dominant;Seizures, benign neonatal, 1, Autosomal dominant	0	1489	33	0	0	33	0.0109598	.	.	.	203705	not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.250	.	.	0.00179712	0.0026	0.0002	0.0008	0	0	0.0005	0.0045	0.0141	0.0016623	257	154602	rs201701585	0.0011	0.0011	0.0006	0.0016	0.0144	0.0011	0.0011	0.0137	0.0134	8.966e-05	0.0006	0.0010	0	0	0.0059	0.0002	0.0012	0.0144	0.0007	0.0007	0.0004	0.0011	0.0137	0.0006	0.0006	0.0110	0.0101	2.405e-05	0	0.0004	0.0012	0.0002	0	0.0034	0.0004	0.0014	0.0137	0.098	0.31383	T	0.498	0.16473	T	0.001	0.12996	B	0.003	0.14300	B	0.012605	0.29115	N	0.346493	0.560604	0.31260	N	0.49	0.13296	N	-5.14	0.98988	D	-0.22	0.12661	N	0.12	0.27077	0.525	0.90895	D	0.850	0.94987	D	10	0.005797833	0.00129	T	.	.	.	0.250	0.55888	.	.	0.309278343525	0.30543	0.20188598172864655	0.20105	0.621969221357	0.56478	0.4459156394	0.31386	T	0.280568	0.65574	T	-0.347798	0.04867	T	-0.260688	0.48755	T	0.0062713556725788	0.00070	T	0.79922	0.44465	T	0.06409487	0.13562	0.051134996	0.08168	0.067172885	0.14520	0.050055306	0.07778	-2.607	0.09044	T	0.12421457513541567	0.12153	0.115	0.23041	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.586074	0.20292	14.68	0.93815638897404219	0.23793	0.68909	0.33981	D	AEFDBCI	0.313222	0.41844	N	-0.601608584314394	0.18896	0.9847405	-0.508404352314558	0.21925	1.188368	0.00217143778739261	0.09210	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.06	0.028	0.13475	1.511000	0.35409	1.260000	0.25225	-0.199000	0.08999	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.2103:0.1654:0.6243	6.272	0.20167	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003033	0.005263	0.000000	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1545.33	36	chr20	63407198	.	T	G	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.446;SOR=0.627	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr20	63542268	63542268	G	A	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon5:c.C841T:p.R281W	.	415	1105	2	0	0	2	0.000904159	.	.	.	2201131	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00809376415649	.	.	8.372e-05	0	8.685e-05	0	0	6.115e-05	0	0.0003	6.47e-05	10	154602	rs375350107	4.657e-05	4.857e-05	4.088e-05	5.232e-05	0.0002	3.732e-05	3.415e-05	0.0001	0.0001	0	2.238e-05	0	0	0	0.0002	3.778e-05	8.285e-05	0.0002	1.971e-05	1.97e-05	3.853e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.005341	0.32875	N	0.201721	0.996785	0.22902	N	2.7	0.79018	M	2.6	0.13204	T	-6.77	0.92782	D	0.467	0.50327	-1.0404	0.17192	T	0.106	0.38611	T	10	0.5462415	0.64000	D	0.008094	0.21444	T	0.112	0.31546	0.525	0.62967	0.57106906325	0.56773	0.41429593947553234	0.41345	0.609944365352	0.55699	0.460135102272	0.33328	T	0.736806	0.92677	D	-0.341088	0.05312	T	-0.431534	0.29761	T	0.606846351133592	0.36673	D	0.906009	0.66877	D	0.6422544	0.74951	0.56555164	0.74854	0.6422544	0.74953	0.56555164	0.74854	-9.213	0.69057	D	.	.	0.104	0.18991	B	.	.	2.716600	0.35524	19.92	0.99784318743154676	0.87043	0.21129	0.21292	N	AEFDGBHCI	0.346918	0.44157	N	-0.27207946370603	0.30230	1.683687	-0.569323962739302	0.20295	1.092778	0.999999999985598	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	-5.4	0.02449	0.355000	0.19902	-0.266000	0.10387	-0.194000	0.09177	0.032000	0.20554	0.000000	0.08366	0.978000	0.57271	0.1927:0.0:0.5972:0.2101	9.177	0.36279	.	.	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1826.33	33	chr20	63542268	.	G	A	1826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=839;ExcessHet=0;FS=5.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.024;SOR=0.374	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1186	18	0	1	0
chr20	63561117	63561117	G	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon9:c.C5404A:p.L1802I,HELZ2:NM_001037335:exon15:c.C7111A:p.L2371I	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0585356888723	.	.	8.374e-06	0	0	0	0	0	0	6.204e-05	6.5e-06	1	154602	rs764576989	1.301e-05	1.3e-05	5.45e-06	2.064e-05	0.0002	8.32e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.47745	D	0.018	0.59732	D	0.983	0.60381	D	0.913	0.64886	D	0.161766	0.17641	N	0.549745	0.987627	0.40622	D	2.425	0.70256	M	-2.55	0.89561	D	-1.54	0.37375	N	0.52	0.57860	0.642	0.92442	D	0.768	0.92126	D	10	0.51832557	0.62496	D	0.058536	0.67351	D	0.560	0.81946	0.424	0.46857	0.703969262359	0.70140	0.23074138044099424	0.22989	0.748255062631	0.63626	0.546921372414	0.45423	T	0.233758	0.60064	T	-0.0215437	0.48634	T	-0.0871946	0.64373	T	0.819772720336914	0.47756	D	0.837116	0.50934	T	0.30970147	0.53760	0.2425035	0.49672	0.30970147	0.53760	0.2425035	0.49671	-7.865	0.60146	D	.	.	0.210	0.45124	B	.;.	.;.	4.415057	0.68328	25.2	0.99496608126423258	0.67801	0.95500	0.64968	D	AEFDGBI	0.599549	0.59253	D	0.53973155171182	0.69459	5.359908	0.473129793666525	0.66213	4.923157	0.978742033690472	0.29954	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	5.533000	0.66873	10.330000	0.83288	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.1677:0.8323:0.0	12.579	0.55730	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1598.33	66	chr20	63561117	.	G	T	1598.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=1032;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.418;SOR=0.604	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	18	0	1	0
chr20	63562626	63562626	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G4489A:p.V1497M,HELZ2:NM_001037335:exon9:c.G6196A:p.V2066M	.	.	.	.	.	.	.	.	.	.	.	3689255	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.0493692121046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318848057	6.947e-07	1.368e-06	1.379e-06	0	2.397e-05	0	0	.	.	0	2.397e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.995	0.70673	D	0.966	0.71341	D	0.200996	0.16601	N	0.550322	1	0.08975	N	2.635	0.77114	M	-2.05	0.85799	D	-2.18	0.49187	N	0.157	0.17002	-0.2001	0.77669	T	0.662	0.88272	D	10	0.28241462	0.45820	T	0.049369	0.63780	D	0.266	0.57999	0.304	0.27325	0.593798965771	0.59057	0.5340450405919143	0.53329	0.212704570118	0.23774	0.317069351673	0.12976	T	0.04258	0.26229	T	-0.0725242	0.40921	T	-0.239009	0.50895	T	0.237480854260905	0.22303	T	0.644436	0.25592	T	0.06413125	0.13575	0.07431314	0.16243	0.06413125	0.13575	0.07431314	0.16243	-6.568	0.50907	T	.	.	0.221	0.46608	B	.;.	.;.	1.694646	0.21587	15.26	0.99652692096725326	0.77380	0.06786	0.12809	N	AEFDGBI	0.056991	0.10580	N	-0.111473463241417	0.36894	2.138722	-0.325537083423292	0.27276	1.512423	0.257715875350152	0.18754	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.32	3.11	0.34883	0.098000	0.15027	1.547000	0.27267	0.549000	0.26987	0.011000	0.18532	0.893000	0.27858	0.005000	0.06747	0.0:0.7044:0.1485:0.1471	8.668	0.33294	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	878.33	54	chr20	63562626	.	C	T	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.333;DP=1096;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.541;SOR=0.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1151	18	0	1	0
chr20	63564447	63564447	C	G	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G2668C:p.E890Q,HELZ2:NM_001037335:exon9:c.G4375C:p.E1459Q	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00379393	0.0079	0	0.0052	0	0	0.0007	0	0.0169	0.00152	235	154602	rs539953336	0.0010	0.0010	0.0006	0.0014	0.0149	0.0009	0.0009	0.0142	0.0139	9.267e-05	0.0001	0	2.691e-05	0	0.0030	9.746e-05	0.0011	0.0149	0.0007	0.0007	0.0005	0.0008	0.0165	0.0006	0.0005	0.0136	0.0126	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0.0019	0.0165	0.122	0.45393	T	0.011	0.64786	D	1.0	0.90584	D	0.981	0.78936	D	0.000213	0.47681	D	0.210788	0.997595	0.44019	D	2.26	0.64354	M	1.38	0.34050	T	-2.11	0.48020	N	0.376	0.41754	-0.6316	0.63502	T	0.231	0.59670	T	10	0.009677857	0.00218	T	.	.	.	0.166	0.42578	.	.	0.673997922743	0.67123	0.34262387451745263	0.34175	0.705151260562	0.61369	0.42878484726	0.29042	T	0.035451	0.23723	T	-0.467536	0.00881	T	-0.432036	0.29705	T	0.0442927726831132	0.04474	T	0.773423	0.40508	T	0.33010918	0.55480	0.28658214	0.54667	0.33010918	0.55480	0.28658214	0.54666	-5.837	0.44896	T	.	.	0.126	0.27642	B	.;.	.;.	3.200435	0.43526	21.7	0.99766353593094326	0.85500	0.98094	0.79547	D	AEFGBI	0.464247	0.51283	N	0.499631969884272	0.67070	5.032732	0.415618600524117	0.62536	4.470794	0.999726726594665	0.42220	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.97	4.97	0.65419	3.028000	0.49389	4.200000	0.42462	0.549000	0.26987	0.993000	0.37899	0.998000	0.33993	0.198000	0.21837	0.0:1.0:0.0:0.0	18.209	0.89800	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001020	0.005208	0.000000	0.002941	0.000000	0.000000	0.000000	0.003846	0.02632	1174.33	76	chr20	63564447	.	C	G	1174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1053;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.143;SOR=1.091	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,103,1454	18	0	1	0
chr20	63564654	63564654	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C2461G:p.R821G,HELZ2:NM_001037335:exon9:c.C4168G:p.R1390G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0256137295217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	6.84e-07	0	1.427e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.996	0.77913	D	0.911	0.73362	D	0.025131	0.26142	N	0.403964	0.937636	0.26885	N	2.645	0.77386	M	1.08	0.39401	T	-5.62	0.86758	D	0.465	0.50146	-0.8971	0.48283	T	0.202	0.55905	T	10	0.74028164	0.74908	D	0.025614	0.48579	D	0.151	0.39764	0.735	0.86806	0.543952843248	0.54050	0.5526502314511533	0.55191	0.819905421968	0.67108	0.534562945366	0.43677	T	0.266773	0.63874	T	-0.0681965	0.41614	T	-0.335736	0.40826	T	0.899427533149719	0.55172	D	0.690631	0.30012	T	0.73660123	0.80098	0.66128784	0.80152	0.73660123	0.80100	0.66128784	0.80153	-7.327	0.57808	T	.	.	0.208	0.56599	B	.;.	.;.	2.929942	0.38926	20.8	0.99745460578897904	0.83852	0.39466	0.26219	N	AEFGBCI	0.160820	0.28680	N	0.183597347305235	0.50411	3.231388	0.0309064298193218	0.41158	2.46806	0.156819932240576	0.17530	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.84	2.71	0.31092	1.018000	0.29604	2.852000	0.35147	0.618000	0.50648	0.711000	0.28732	1.000000	0.68203	0.019000	0.11356	0.1064:0.0:0.4551:0.4384	5.813	0.17740	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3342.79	77	chr20	63564654	.	G	C	3342.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.431;DP=1086;ExcessHet=0.3672;FS=18.943;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.148;SOR=0.196	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	16	0	3	0
chr20	63569517	63569517	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon5:c.G719A:p.R240H	.	431	1085	5	1	0	7	0.00321543	.	.	.	4149799	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0329718144125	7.7e-05	.	0.0002	0	0	0	0	0.0001	0.0016	0.0006	9.7e-05	15	154602	rs377344395	9.81e-05	9.92e-05	7.643e-05	0.0001	0.0007	8.468e-05	7.944e-05	0.0004	0.0004	2.992e-05	0	0	7.597e-05	0	0.0007	7.383e-05	0.0001	0.0005	6.567e-05	6.566e-05	3.852e-05	9.409e-05	0.0008	3.515e-05	2.615e-05	0.0003	0.0002	2.411e-05	0	0	0	0	0	0	7.348e-05	0	0.0008	0.536	0.06891	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.187573	0.03227	N	1.629700	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	-0.25	0.11008	N	0.037	0.01135	-0.9820	0.34538	T	0.198	0.55343	T	10	0.038633466	0.02295	T	0.032972	0.54648	D	0.145	0.38592	.	.	0.158396225186	0.15383	0.17771803658209204	0.17690	0.21845120166	0.24383	0.410784900188	0.26565	T	0.018923	0.15168	T	-0.491822	0.00635	T	-0.585664	0.14043	T	0.0264737487001913	0.01470	T	0.550545	0.18982	T	0.026835587	0.01791	0.021635188	0.00208	0.026835587	0.01791	0.021635188	0.00208	-3.506	0.16515	T	.	.	0.073	0.04847	B	.	.	0.180578	0.05683	2.129	0.96469651092321695	0.29932	0.05533	0.11426	N	AEFDGBCI	0.054236	0.09844	N	-1.31014601047634	0.03558	0.1591608	-1.39765545211521	0.03277	0.1525315	0.999889797917292	0.44867	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.5	-5.22	0.02592	-3.590000	0.00471	-3.694000	0.02600	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2476:0.3675:0.1537:0.2313	1.21	0.01787	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1430.33	118	chr20	63569517	.	C	T	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=1295;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.15;SOR=0.915	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	18	0	1	0
chr20	63690835	63690835	G	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon26:c.G1775T:p.S592I,RTEL1:NM_001283009:exon27:c.G2444T:p.S815I,RTEL1:NM_016434:exon27:c.G2444T:p.S815I,RTEL1:NM_032957:exon27:c.G2516T:p.S839I	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	429	1092	1	0	0	1	0.000457666	.	.	.	533684	Dyskeratosis_congenita|not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0009	0.000998403	0.0018	0.0005	0.0006	0	0.0149	0.0024	0.0020	0	0.0011449	177	154602	rs150461578	0.0017	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0017	0.0017	0.0004	0.0016	0.0005	0	0.0069	0.0017	0.0017	0.0014	1.173e-05	0.0017	0.0017	0.0014	0.0021	0.0023	0.0016	0.0015	0.0020	0.0019	0.0004	0	0.0014	0.0012	0	0.0058	0	0.0023	0.0028	0	0.037	0.68238	D	0.072	0.56640	T	0.075	0.37787	B	0.068	0.41006	B	0.070908	0.21508	N	0.548037	0.997527	0.22623	N	2.475	0.71894	M	2.88	0.10291	T	-3.4	0.67014	D	0.457	0.50327	-1.0530	0.13574	T	0.030	0.12892	T	10	0.0042290688	0.00084	T	.	.	.	0.047	0.12962	.	.	0.356364620521	0.35248	0.41054326372910854	0.40970	.	.	0.432211667299	0.29510	T	0.534634	0.83957	D	-0.482503	0.00715	T	-0.472025	0.25298	T	0.0339921006826427	0.02636	T	0.831417	0.50110	T	0.13018629	0.30385	0.14204183	0.33806	0.14836971	0.33875	0.13731408	0.32824	-6.805	0.53727	T	0.4227746478651287	0.51128	0.116	0.28492	B	.;.;.;.;.	.;.;.;.;.	1.740375	0.22144	15.50	0.99270637234239612	0.57559	0.75866	0.37169	D	AEFDGBHCI	0.128861	0.24681	N	-0.49882882861519	0.22119	1.178843	-0.503949485305626	0.22046	1.195493	0.999990741468573	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.77	1.67	0.23149	0.958000	0.28825	0.895000	0.22503	-0.123000	0.13640	0.103000	0.22855	0.043000	0.21642	0.251000	0.23288	0.2533:0.1454:0.6012:0.0	5.579	0.16521	.	.	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002028	0.010309	0.001362	0.005988	0.000000	0.000000	0.003086	0.000000	0.02632	695.33	33	chr20	63690835	.	G	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=752;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-0.683;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	18	0	1	0
chr20	63698361	63698361	A	C	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon3:c.A701C:p.Q234P	.	426	1091	5	0	0	5	0.00228624	.	.	.	1897899	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0568279820077	.	.	1.012e-05	0	0	0	0	0	0	6.709e-05	6.5e-06	1	154602	rs781192378	6.861e-06	6.84e-06	5.462e-06	8.273e-06	5.81e-05	3.47e-06	2.53e-06	2.197e-05	1.432e-05	0	0	0	0	1.929e-05	0	2.701e-06	1.661e-05	5.81e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.024	0.47745	D	0.014	0.62352	D	0.995	0.67487	D	0.72	0.54860	P	.	.	.	.	0.974213	0.25504	N	2.14	0.59869	M	0.09	0.61443	T	-1.48	0.36189	N	0.638	0.65074	-0.8928	0.48687	T	0.218	0.58046	T	9	0.675684	0.70976	D	0.056828	0.66745	D	0.195	0.47612	0.463	0.53242	0.306695030598	0.30287	0.695504470587315	0.69491	0.0786725316196	0.08852	0.562599539757	0.47634	T	0.146805	0.48458	T	-0.140554	0.29803	T	-0.339042	0.40452	T	0.295700222253799	0.24826	T	0.480552	0.14510	T	0.30031744	0.52934	0.30488196	0.56516	0.30031744	0.52933	0.30488196	0.56515	-5.465	0.41540	T	.	.	0.203	0.42806	B	.	.	2.411341	0.30991	18.61	0.9834694083165757	0.40497	0.95115	0.63493	D	AEFDGBHCI	0.289939	0.40145	N	-0.0783922421883194	0.38342	2.244115	-0.227515734495972	0.30555	1.721357	0.999999919081185	0.74766	0.536635	0.22144	0	0.519925	0.08708	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	4.16	3.06	0.34374	1.219000	0.32083	1.869000	0.29374	-0.109000	0.15193	0.791000	0.29607	0.991000	0.31484	0.007000	0.07825	0.8985:0.0:0.1015:0.0	7.487	0.26606	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1339.33	33	chr20	63698361	.	A	C	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.463;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.358;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1353,0,1070	18	0	1	0
chr20	63700462	63700462	C	T	exonic	ARFRP1	.	nonsynonymous SNV	ARFRP1:NM_001267546:exon7:c.G446A:p.R149Q,ARFRP1:NM_001267547:exon8:c.G587A:p.R196Q,ARFRP1:NM_001267548:exon8:c.G587A:p.R196Q,ARFRP1:NM_003224:exon8:c.G587A:p.R196Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	2673660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.01759094414	7.7e-05	.	8.551e-05	0	0.0002	0.0001	0	9.422e-05	0	6.075e-05	3.84e-05	1	26028	rs140213848	0.0001	0.0001	9.698e-05	0.0001	0.0001	8.876e-05	8.36e-05	0.0001	9.883e-05	0	4.473e-05	0	5.039e-05	0	0	0.0001	6.646e-05	5.805e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.879e-05	0	0	.	.	.	0.067	0.44302	T	0.967	0.56408	D	0.387	0.44046	B	0.000129	0.49741	D	0.138045	1	0.81001	D	1.78	0.46185	L	.	.	.	.	.	.	0.529	0.64563	-0.3641	0.73141	T	0.283	0.65468	T	10	0.26159358	0.43620	T	0.017591	0.39349	T	.	.	.	.	0.585382094262	0.58212	0.5412537089182844	0.54050	.	.	0.621567189693	0.55950	T	0.361995	0.72798	T	-0.146908	0.28795	T	-0.148476	0.59378	T	0.226825565099716	0.21799	T	0.937306	0.76420	D	0.13567309	0.31479	0.086701065	0.20104	0.13567309	0.31479	0.086701065	0.20104	-3.781	0.20521	T	.	.	0.151	0.33435	B	.;.;.;.;.	.;.;.;.;.	4.699326	0.75381	26.3	0.99927878261594949	0.99163	0.95970	0.66948	D	AEFDGBHCI	0.746153	0.68861	D	0.456912563754409	0.64597	4.717763	0.478158371531332	0.66545	4.966062	1.0	0.98316	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.79	4.79	0.60909	5.436000	0.66287	7.513000	0.59647	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	17.435	0.87442	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2066.33	34	chr20	63700462	.	C	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=804;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=2.06;SOR=0.778	GT:AD:DP:GQ:PL	0/1:79,83:162:99:2080,0,1760	18	0	1	0
chr20	63862838	63862838	G	C	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.G1298C:p.R433P	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.00319489	0.0075	0	0.0039	0	0	0.0002	0.0076	0.0142	0.0012031	186	154602	rs369855711	0.0009	0.0010	0.0005	0.0014	0.0156	0.0009	0.0009	0.0148	0.0146	0	0	0	2.806e-05	0	0.0009	2.785e-06	0.0011	0.0156	0.0004	0.0004	0.0003	0.0006	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	1.471e-05	0	0.0139	0.091	0.31834	T	0.134	0.34241	T	0.785	0.44430	P	0.359	0.43123	B	0.020207	0.27088	N	0.335796	1	0.08975	N	2.44	0.70756	M	0.92	0.44461	T	-1.65	0.39503	N	0.451	0.48872	-1.0069	0.27881	T	0.089	0.34243	T	10	0.0059812367	0.00134	T	.	.	.	0.084	0.24469	0.367	0.37524	0.429666569261	0.42586	0.7136727065230333	0.71310	1.27094808875	0.82264	0.471149116755	0.34839	T	0.005659	0.05109	T	-0.428049	0.01523	T	-0.375315	0.36270	T	0.0545993516631287	0.06291	T	0.590841	0.21745	T	0.38560924	0.59718	0.31247407	0.57249	0.38560924	0.59719	0.31247407	0.57248	-3.561	0.17296	T	.	.	0.143	0.31355	B	.	.	2.289391	0.29282	18.07	0.93043341493089127	0.22648	0.41649	0.26704	N	AEFDGBCI	0.253995	0.37340	N	-0.109571450985956	0.36974	2.144665	-0.183010448051174	0.32160	1.826952	0.99999819068356	0.74766	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.41	3.36	0.37579	2.715000	0.46879	3.309000	0.37448	0.676000	0.76740	0.058000	0.21700	0.998000	0.33993	0.065000	0.16320	0.0855:0.1556:0.7589:0.0	8.647	0.33175	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.000000	0.000000	0.003125	0.000000	0.000000	0.000000	0.015873	0.05263	918.83	40	chr20	63862838	.	G	C	918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.268;DP=749;ExcessHet=0.119;FS=6.599;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.92;SOR=1.516	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,108,1420	17	0	2	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M,TPD52L2:NM_001243892:exon3:c.G229A:p.V77M,TPD52L2:NM_001243894:exon3:c.G298A:p.V100M,TPD52L2:NM_001243895:exon3:c.G298A:p.V100M,TPD52L2:NM_003288:exon3:c.G298A:p.V100M,TPD52L2:NM_199359:exon3:c.G298A:p.V100M,TPD52L2:NM_199360:exon3:c.G298A:p.V100M,TPD52L2:NM_199361:exon3:c.G298A:p.V100M,TPD52L2:NM_199362:exon3:c.G298A:p.V100M,TPD52L2:NM_199363:exon3:c.G298A:p.V100M	.	437	1059	24	2	0	28	0.0130475	.	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010101	0.000000	0.006793	0.002941	0.000000	0.025862	0.012346	0.034351	0.02632	650.33	36	chr20	63873800	.	G	A	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.036;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.245;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1259	18	0	1	0
chr20	64208100	64208102	GAG	-	exonic	MYT1	.	nonframeshift deletion	MYT1:NM_004535:exon7:c.904_906del:p.E306del	.	390	1116	16	0	0	16	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	.	0.0023	0.0008	0.0031	0.0001	0	0.0030	0.0036	0.0019	0.00073	19	26028	rs147483668	0.0021	0.0024	0.0020	0.0022	0.0258	0.0020	0.0020	0.0224	0.0211	0.0011	0.0040	0.0311	5.043e-05	3.79e-05	0.0258	0.0014	0.0042	0.0018	0.0025	0.0025	0.0024	0.0026	0.0066	0.0023	0.0022	0.0055	0.0051	0.0006	0.0077	0.0066	0.0254	0	9.54e-05	0.0172	0.0019	0.0062	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189080	0.479167	0.087193	0.131579	0.100000	0.172414	0.207317	0.132576	0.02632	4038.29	225	chr20	64208099	.	AGAG	A	4038.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.375;DP=1087;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-0.208;SOR=0.72	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1387	18	0	1	0
chr20	64218934	64218934	G	A	exonic	MYT1	.	nonsynonymous SNV	MYT1:NM_004535:exon12:c.G1870A:p.E624K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0302200596172	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1472129586	1.026e-05	1.026e-05	8.17e-06	1.238e-05	1.169e-05	6.16e-06	4.89e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.165	0.57104	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	0.27	0.59176	T	-3.64	0.69835	D	0.578	0.61933	-0.1862	0.78024	T	0.416	0.76292	T	10	0.74078137	0.74941	D	0.03022	0.52574	D	0.480	0.77077	0.822	0.93461	0.404519682234	0.40067	.	.	1.18336280601	0.80073	0.78042113781	0.78991	T	0.090642	0.85083	T	0.265069	0.79995	D	0.142977	0.79738	D	0.983110308647156	0.74903	D	0.927407	0.91457	D	0.78435165	0.82922	0.710679	0.82933	0.78435165	0.82923	0.710679	0.82934	-14.052	0.93224	D	.	.	0.248	0.69016	B	.;.;.;.	.;.;.;.	3.905373	0.56920	23.8	0.99362592793416749	0.61071	0.99491	0.96677	D	AEFBI	0.907308	0.86118	D	0.447151857773309	0.64040	4.650052	0.487016140966052	0.67130	5.042845	0.999999999999762	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.49	5.49	0.81022	6.766000	0.74765	9.819000	0.81792	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:0.0:1.0:0.0	19.730	0.96172	.	.	Myelin transcription factor 1;Myelin transcription factor 1;.;Myelin transcription factor 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	33	chr20	64218934	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=765;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.922;SOR=0.801	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1305	18	0	1	0
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P,PWP2:NM_005049:exon15:c.G1904C:p.R635P	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	5320.72	35	chr21	5137388	.	C	G	5320.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.775;DP=1036;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=37.84;MQRankSum=-4.338;QD=12.35;ReadPosRankSum=-1.67;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	17	0	1	1
chr21	10413724	10413724	C	T	exonic	BAGE;BAGE4	.	nonsynonymous SNV	BAGE:NM_001187:exon1:c.C5T:p.A2V,BAGE4:NM_181704:exon1:c.C5T:p.A2V	.	.	.	.	.	.	.	.	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs750289446	6.59e-06	2.601e-05	6.532e-06	6.648e-06	2.405e-05	2.84e-06	2.05e-06	3.99e-06	1.49e-06	0	0	0	0	3.081e-05	0	5.248e-06	0	2.405e-05	1.314e-05	2.628e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	340.33	148	chr21	10413724	.	C	T	340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=2162;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.72;MQRankSum=0.707;QD=2.84;ReadPosRankSum=-1.024;SOR=0.919	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	18	0	1	0
chr21	10598093	10598093	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.C941T:p.S314L,TPTE:NM_199260:exon19:c.C1241T:p.S414L,TPTE:NM_199259:exon20:c.C1301T:p.S434L,TPTE:NM_199261:exon21:c.C1355T:p.S452L	.	424	1070	27	1	0	29	0.0133702	0.0004	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147105244	0.0007	0.0018	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0	0.0004	0.0013	7.568e-05	5.619e-05	0.0033	0.0003	0.0008	0.0076	0.0006	0.0013	0.0005	0.0007	0.0080	0.0005	0.0005	0.0060	0.0053	4.809e-05	0	0.0002	0.0012	0.0004	0	0	0.0006	0.0014	0.0080	.	.	.	0.272	0.27503	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.19593	.	.	.	.	.	.	.	0.014126092	0.00298	T	.	.	.	.	.	.	.	.	.	0.7574105861191883	0.75689	.	.	.	.	.	0.256782	0.62774	T	.	.	.	.	.	.	.	.	.	0.650435	0.26116	T	.	.	.	.	.	.	.	.	-4.445	0.31767	T	.	.	0.082	0.11558	B	.;.;.;.	.;.;.;.	-0.601585	0.01567	0.104	.	.	.	.	.	.	0.019152	0.00640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.468000	0.02456	-6.787000	0.01306	-1.838000	0.00583	0.010000	0.18352	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	488.33	34	chr21	10598093	.	C	T	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=1130;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0.492;QD=2.53;ReadPosRankSum=1.65;SOR=0.623	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	18	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	6450.83	34	chr21	13610400	.	A	G	6450.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.016;DP=1265;ExcessHet=0.119;FS=1.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.99;MQRankSum=0.512;QD=10.99;ReadPosRankSum=-0.551;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1376	17	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:143,147:290:99:3870,0,3445	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:125,117:242:99:2902,0,3497	3	3	13	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5675.79	35	chr21	13615163	.	G	A	5675.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.085;DP=1039;ExcessHet=0.3672;FS=3.219;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=50.27;MQRankSum=0.711;QD=11.8;ReadPosRankSum=0.232;SOR=0.488	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1642,0,2365	16	0	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:80,96:176:99:2172,0,2014	3	5	11	0
chr21	14582274	14582274	C	A	exonic	SAMSN1	.	nonsynonymous SNV	SAMSN1:NM_001256370:exon2:c.G123T:p.K41N	.	429	1092	1	0	0	1	0.000457666	.	.	.	728832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0167431675301	.	0.00119808	0.0010	0	0.0034	0	0.0018	0.0019	0.0096	0	0.0004981	77	154602	rs151160030	0.0025	0.0024	0.0026	0.0024	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0015	0.0008	0	0.0021	0.0004	0.0029	0.0024	1.262e-05	0.0020	0.0020	0.0022	0.0018	0.0034	0.0018	0.0017	0.0030	0.0029	0.0006	0	0.0015	0.0003	0	0.0018	0	0.0034	0.0009	0	0.005	0.63226	D	0.035	0.52389	D	.	.	.	.	.	.	0.000620	0.42945	D	0.094278	0.998483	0.22124	N	.	.	.	0.66	0.52416	T	-0.59	0.17624	N	0.159	0.16586	-0.8810	0.49681	T	0.145	0.46859	T	9	0.002650708	0.00041	T	0.016743	0.38138	T	0.113	0.31778	0.348	0.34436	0.378498632473	0.37457	0.14273893426460046	0.14196	0.15952282972	0.17999	0.407473951578	0.26107	T	.	.	.	-0.568933	0.00225	T	-0.587675	0.13867	T	0.034609230686073	0.02742	T	0.743826	0.36376	T	.	.	.	.	.	.	.	.	-3.515	0.16642	T	.	.	0.326	0.54968	B	.;.	.;.	1.095811	0.14797	11.34	0.99297126645048617	0.58469	0.13744	0.18028	N	AEFGBHCIJ	0.078081	0.15746	N	-0.551235762199598	0.20445	1.077818	-0.71654607442744	0.16549	0.8759693	0.999999999998869	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	-1.42	0.08446	-0.095000	0.11043	-1.145000	0.06197	-0.182000	0.10109	0.007000	0.17678	0.000000	0.08366	0.951000	0.49849	0.0:0.4777:0.0:0.5223	11.04	0.47042	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1108.33	133	chr21	14582274	.	C	A	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=1952;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=3.06;SOR=0.978	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	18	0	1	0
chr21	14582280	14582280	G	T	exonic	SAMSN1	.	nonsynonymous SNV	SAMSN1:NM_001256370:exon2:c.C117A:p.H39Q	.	426	1092	3	1	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00678914	0.0062	0	0.0034	0.0061	0.0030	0.0071	0	0.0072	0.0015524	240	154602	rs139465416	0.0049	0.0047	0.0047	0.0051	0.0177	0.0048	0.0048	0.0165	0.0161	0.0007	0.0014	0.0062	0.0177	0.0030	0.0012	0.0047	0.0046	0.0071	0.0034	0.0034	0.0032	0.0036	0.0150	0.0032	0.0031	0.0124	0.0114	0.0007	0.0099	0.0015	0.0084	0.0150	0.0020	0	0.0043	0.0024	0.0068	0.211	0.19569	T	0.197	0.27855	T	.	.	.	.	.	.	0.850141	0.07052	N	1.078960	0.999636	0.20820	N	.	.	.	1.03	0.40469	T	0.07	0.06138	N	0.033	0.00882	-0.9089	0.46989	T	0.131	0.44148	T	9	0.0062390864	0.00141	T	.	.	.	0.069	0.20116	0.245	0.17984	0.374076547971	0.37021	0.04355858072744278	0.04300	0.130872178573	0.14763	0.241241544485	0.02903	T	.	.	.	-0.701228	0.00036	T	-0.766416	0.02887	T	0.00334240836151075	0.00035	T	0.288271	0.05202	T	.	.	.	.	.	.	.	.	-3.301	0.13750	T	.	.	0.097	0.16010	B	.;.	.;.	0.478040	0.08477	5.235	0.72350919477098707	0.09943	0.60428	0.31193	D	AEFGBHCIJ	0.100900	0.20278	N	-0.43358084922464	0.24299	1.311116	-0.43314033324808	0.24031	1.313715	0.999999999999506	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	2.9	0.32809	-0.211000	0.09336	0.100000	0.14636	-0.115000	0.14600	0.732000	0.28943	0.000000	0.08366	0.786000	0.37147	0.1904:0.1046:0.705:0.0	10.456	0.43735	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	133	chr21	14582280	.	G	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=2029;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.848;SOR=0.829	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	18	0	1	0
chr21	14967900	14967900	C	T	exonic	NRIP1	.	nonsynonymous SNV	NRIP1:NM_003489:exon4:c.G293A:p.R98Q	.	.	.	.	.	.	.	.	.	.	.	2309349	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.00687738932213	.	0.000399361	6.615e-05	0.0006	0	0	0	1.504e-05	0	6.065e-05	6.47e-05	10	154602	rs553224991	2.394e-05	2.394e-05	2.314e-05	2.475e-05	0.0002	1.739e-05	1.539e-05	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	1.978e-05	3.312e-05	4.637e-05	7.879e-05	7.875e-05	7.71e-05	8.057e-05	0.0002	4.494e-05	3.51e-05	0.0001	9.91e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.208	0.26883	T	0.997	0.70673	D	0.677	0.53365	P	0.001505	0.38793	N	0.229124	0.982424	0.39890	D	1.78	0.46185	L	3.0	0.09167	T	-2.91	0.60982	D	0.425	0.46462	-1.1989	0.00158	T	0.056	0.23565	T	10	0.101445526	0.18537	T	0.006877	0.18205	T	0.214	0.50650	.	.	0.330131851566	0.32626	0.08775094577399038	0.08708	0.184186325535	0.20715	0.619613409042	0.55675	T	0.141445	0.47650	T	-0.323029	0.06652	T	-0.385629	0.35063	T	0.274321836816729	0.23931	T	0.915408	0.69775	D	0.20326686	0.42399	0.19199957	0.42689	0.20326686	0.42399	0.19199957	0.42688	-4.361	0.29023	T	.	.	0.147	0.34949	B	.;.;.	.;.;.	5.203770	0.87303	29.2	0.99921246723049151	0.98787	0.93725	0.59013	D	AEFBHCI	0.505152	0.53642	D	0.643813630854673	0.75968	6.400824	0.677281207656241	0.80657	7.347805	0.999999059517607	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	3.692000	0.54460	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.053	0.97635	994	0.00715	Nuclear receptor-interacting protein 1, repression domain 1;Nuclear receptor-interacting protein 1, repression domain 1;Nuclear receptor-interacting protein 1, repression domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2401.33	33	chr21	14967900	.	C	T	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=913;ExcessHet=0;FS=2.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.762;SOR=0.944	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	18	0	1	0
chr21	15847768	15847768	G	T	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001283041:exon19:c.G2443T:p.D815Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0650452802723	.	.	0.0004	0	0	0	0	0.0010	0	0	4.53e-05	7	154602	rs200059109	7.452e-05	7.114e-05	6.789e-05	8.134e-05	8.361e-06	6.264e-05	5.853e-05	3.93e-06	2.85e-06	0	0	0.0033	0	0	0	8.361e-06	0.0002	0	3.287e-05	3.284e-05	5.141e-05	1.346e-05	.	1.261e-05	7.98e-06	.	.	0	0	0	0.0014	0	0	0	0	0	0	0.004	0.65419	D	0.043	0.49942	D	0.798	0.44840	P	0.133	0.33073	B	.	.	.	.	0.904472	0.81001	D	.	.	.	1.62	0.28189	T	-1.01	0.26639	N	0.903	0.90363	-0.3000	0.74985	T	0.409	0.75782	T	8	0.12138134	0.23008	T	0.065045	0.69460	D	0.234	0.53644	.	.	0.290620346082	0.28682	0.6567780494558059	0.65613	.	.	.	.	.	.	.	.	-0.0761866	0.40332	T	-0.326942	0.41808	T	0.208820202045897	0.20891	T	0.857914	0.54791	D	.	.	.	.	.	.	.	.	-9.359	0.69978	D	.	.	0.735	0.74397	P	.	.	4.380871	0.67527	25.1	0.99040940044349379	0.51028	0.99718	0.98931	D	AEFBI	0.882316	0.81034	D	0.563131131598617	0.70885	5.567758	0.673644548072926	0.80381	7.286529	0.999999999999791	0.74766	0.559995	0.30671	0	0.446627	0.06534	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	6.16	6.16	0.99302	9.053000	0.93310	11.811000	0.96937	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.860	0.99763	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	645.33	33	chr21	15847768	.	G	T	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=660;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.14;SOR=0.465	GT:AD:DP:GQ:PL	0/1:16,25:41:99:659,0,407	18	0	1	0
chr21	15849859	15849859	C	G	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001283042:exon19:c.C2420G:p.A807G,USP25:NM_001283041:exon20:c.C2534G:p.A845G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.130109930482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266776466	1.17e-05	1.437e-05	1.009e-05	1.335e-05	0.0002	6.92e-06	5.6e-06	6.423e-05	4.812e-05	0	0	0	0	2.121e-05	0.0002	3.757e-06	1.771e-05	0.0001	3.29e-05	3.285e-05	2.572e-05	4.042e-05	0.0004	1.262e-05	7.99e-06	7.301e-05	3.033e-05	0	0	0	0	0	0	0	4.412e-05	0	0.0004	0.005	0.65419	D	0.036	0.54541	D	0.964	0.59675	D	0.801	0.58220	P	0.004381	0.33816	N	0.247728	0.96478	0.81001	D	.	.	.	1.04	0.44461	T	-2.52	0.55662	D	0.472	0.50778	-0.3954	0.72172	T	0.364	0.72483	T	9	0.30801344	0.48300	T	0.13011	0.81224	D	0.170	0.43303	0.255	0.19533	0.161926535498	0.15789	0.35003238809595427	0.34917	.	.	.	.	.	.	.	.	-0.322724	0.06677	T	-0.396799	0.33756	T	0.251233941500969	0.22928	T	0.932807	0.75759	D	.	.	.	.	.	.	.	.	-7.272	0.57526	T	.	.	0.566	0.67965	P	.;.	.;.	5.005688	0.83095	28.0	0.99527289242392536	0.69653	0.98175	0.80252	D	AEFBI	0.784270	0.71501	D	0.395598092653032	0.61183	4.316024	0.467359461986891	0.65838	4.874793	0.999999999967467	0.74766	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	4.97	4.97	0.65419	7.147000	0.76970	5.894000	0.50799	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.826	0.88577	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	110	chr21	15849859	.	C	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=753;ExcessHet=0;FS=0.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.009;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1159	18	0	1	0
chr21	15877814	15877814	G	A	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001352560:exon23:c.G2155A:p.A719T,USP25:NM_001352561:exon23:c.G1606A:p.A536T,USP25:NM_013396:exon23:c.G2818A:p.A940T,USP25:NM_001283042:exon24:c.G2914A:p.A972T,USP25:NM_001283041:exon25:c.G3028A:p.A1010T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	0.0035	0.00379393	0.0017	0.0116	0.0009	0	0	0.0012	0	0	0.0014553	225	154602	rs34979861	0.0009	0.0009	0.0011	0.0008	0.0085	0.0009	0.0009	0.0077	0.0074	0.0085	0.0011	3.838e-05	5.057e-05	3.754e-05	0.0002	0.0009	0.0010	3.503e-05	0.0032	0.0032	0.0033	0.0030	0.0090	0.0029	0.0028	0.0083	0.0080	0.0090	0.0011	0.0028	0	0.0002	0.0002	0	0.0009	0.0009	0	0.084	0.43393	T	0.301	0.36101	T	0.956	0.77913	P	0.207	0.64984	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.82	0.33630	T	-2.6	0.58085	D	0.692	0.77413	-0.8967	0.48322	T	0.147	0.47290	T	10	0.00778684	0.00177	T	.	.	.	0.204	0.49076	.	.	0.452476734342	0.44872	0.45655362566136426	0.45573	0.762233562967	0.64326	0.678966999054	0.64120	T	0.077981	0.35783	T	-0.214048	0.18812	T	-0.0728495	0.65423	T	0.0445578104128414	0.04522	T	0.876612	0.91743	D	0.5209732	0.68315	0.3169283	0.57671	0.5209732	0.68316	0.3169283	0.57670	-8.156	0.62579	D	.	.	0.498	0.65355	A	.;.;.;.	.;.;.;.	4.623822	0.73450	26.0	0.99907913845347573	0.97801	0.99299	0.94153	D	AEFBI	0.870997	0.79220	D	0.702715586896562	0.79811	7.157107	0.740790536902179	0.85466	8.589466	0.999999999996641	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.572000	0.97338	11.853000	0.98135	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.160	0.93514	909	0.22467	.;Ubiquitin specific protease domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.015306	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	339.33	33	chr21	15877814	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=639;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.206;SOR=1.032	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	18	0	1	0
chr21	17796644	17796646	TCT	-	exonic	C21orf91	.	nonframeshift deletion	C21orf91:NM_001100420:exon3:c.600_602del:p.E201del,C21orf91:NM_001100421:exon3:c.600_602del:p.E201del,C21orf91:NM_017447:exon3:c.600_602del:p.E201del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs771502455	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	6.512e-05	4.45e-05	0	0	0	0.0002	1.872e-05	0.0002	2.698e-06	0	0	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1947.29	33	chr21	17796643	.	CTCT	C	1947.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=755;ExcessHet=0;FS=8.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.36;SOR=0.255	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1256	18	0	1	0
chr21	21286349	21286349	A	G	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.A418G:p.S140G,NCAM2:NM_001352593:exon4:c.A418G:p.S140G,NCAM2:NM_001352594:exon4:c.A418G:p.S140G,NCAM2:NM_001352596:exon4:c.A418G:p.S140G,NCAM2:NM_004540:exon4:c.A418G:p.S140G,NCAM2:NM_001352592:exon5:c.A493G:p.S165G,NCAM2:NM_001352597:exon5:c.A493G:p.S165G	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0378054809645	0.0002	0.00119808	0.0010	0.0002	0.0002	0	0	0.0001	0.0011	0.0065	0.0008344	129	154602	rs200645709	0.0005	0.0005	0.0003	0.0007	0.0069	0.0004	0.0004	0.0065	0.0063	0.0004	6.73e-05	3.835e-05	2.521e-05	0	0.0010	3.96e-05	0.0003	0.0069	0.0004	0.0004	0.0002	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0.0003	0	6.58e-05	0	0	0	0	0.0001	0	0.0068	0.238	0.17821	T	0.0	0.92824	D	0.981	0.59675	D	0.795	0.57940	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.015	0.05111	N	0.84	0.47477	T	-2.72	0.57920	D	0.577	0.59901	-0.9047	0.47481	T	0.129	0.43767	T	10	0.008302569	0.00188	T	0.037805	0.57842	D	0.317	0.63904	.	.	0.518585118908	0.51502	0.7454684276588143	0.74492	0.274254006711	0.29918	0.571255207062	0.48855	T	0.408817	0.76403	T	-0.387007	0.02812	T	-0.32496	0.42028	T	0.0656066769658155	0.08020	T	0.914809	0.72634	D	0.70710593	0.78448	0.46811545	0.69146	0.70710593	0.78450	0.46811545	0.69147	-8.667	0.65530	D	.	.	0.154	0.34071	B	.;.	.;.	4.280044	0.65190	24.8	0.99582614322548413	0.73099	0.99201	0.92723	D	AEFBI	0.922303	0.89707	D	0.43001334575009	0.63078	4.534958	0.511812267429939	0.68785	5.268068	0.999961287425879	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	8.399000	0.90081	11.178000	0.88207	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	14.020	0.64063	999	0.00169	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1249.33	46	chr21	21286349	.	A	G	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.463;DP=817;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.65;SOR=0.875	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1420	18	0	1	0
chr21	21286370	21286370	A	G	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.A439G:p.S147G,NCAM2:NM_001352593:exon4:c.A439G:p.S147G,NCAM2:NM_001352594:exon4:c.A439G:p.S147G,NCAM2:NM_001352596:exon4:c.A439G:p.S147G,NCAM2:NM_004540:exon4:c.A439G:p.S147G,NCAM2:NM_001352592:exon5:c.A514G:p.S172G,NCAM2:NM_001352597:exon5:c.A514G:p.S172G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.116240138093	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968910165	2.739e-06	3.42e-06	5.45e-06	0	3.6e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.6e-06	0	0	1.317e-05	1.314e-05	1.287e-05	1.349e-05	2.944e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.034	0.44029	D	0.025	0.56640	D	0.982	0.60036	D	0.649	0.52426	P	0.000096	0.51296	D	0.263131	0.986542	0.81001	D	3.14	0.88230	M	-0.48	0.70249	T	-2.12	0.48184	N	0.312	0.35194	-0.1231	0.79562	T	0.448	0.78348	T	10	0.48453078	0.60629	T	0.11624	0.79566	D	0.325	0.64725	0.338	0.32816	0.742938853572	0.74063	0.5511176530257318	0.55037	0.140751882377	0.15877	0.486426979303	0.36944	T	0.213241	0.57450	T	-0.0266087	0.47906	T	-0.260512	0.48774	T	0.802468597888947	0.46521	D	0.871313	0.58582	D	0.5774778	0.71470	0.31578204	0.57563	0.5774778	0.71471	0.31578204	0.57562	-8.527	0.64608	D	.	.	0.259	0.49373	B	.;.	.;.	3.740798	0.53561	23.4	0.99771493869682515	0.85918	0.94030	0.59902	D	AEFBI	0.500733	0.53387	D	0.47668080133198	0.65732	4.859508	0.448884824642678	0.64645	4.724488	0.211828599931261	0.18249	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.05	5.05	0.67566	2.109000	0.41487	9.318000	0.80019	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.624	0.61625	999	0.00169	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	678.33	46	chr21	21286370	.	A	G	678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=769;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.549;SOR=0.544	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1420	18	0	1	0
chr21	25911825	25911825	C	T	exonic	APP	.	nonsynonymous SNV	APP:NM_001136129:exon11:c.G1432A:p.V478M,APP:NM_001136131:exon12:c.G1495A:p.V499M,APP:NM_001204303:exon12:c.G1600A:p.V534M,APP:NM_201414:exon12:c.G1600A:p.V534M,APP:NM_001136016:exon13:c.G1753A:p.V585M,APP:NM_001136130:exon13:c.G1657A:p.V553M,APP:NM_001204302:exon13:c.G1768A:p.V590M,APP:NM_001385253:exon13:c.G1657A:p.V553M,APP:NM_201413:exon13:c.G1768A:p.V590M,APP:NM_000484:exon14:c.G1825A:p.V609M,APP:NM_001204301:exon14:c.G1825A:p.V609M	Alzheimer disease 1, familial, Autosomal dominant;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.103483295352	.	0.000199681	4.119e-05	0	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs541374184	1.094e-05	1.094e-05	1.497e-05	6.875e-06	6.708e-05	6.48e-06	5.24e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	3.744e-05	0	7.194e-06	0	3.478e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.535e-05	0	0.0002	0	0	0	0	0	0.092	0.34621	T	0.152	0.38016	T	0.999	0.90584	D	0.861	0.66904	P	0.006707	0.31850	N	0.334563	0.999367	0.51308	D	1.445	0.36358	L	-2.09	0.96402	D	-0.72	0.20358	N	0.599	0.62273	0.893	0.95580	D	0.853	0.95104	D	10	0.342636	0.51291	T	0.103483	0.77755	D	0.458	0.75619	0.269	0.21735	0.95445842456	0.95397	0.5015673640584759	0.50078	1.04960781204	0.76100	0.601649165154	0.53137	T	0.131562	0.46112	T	0.125733	0.66943	D	0.145484	0.79898	D	0.320696920156479	0.25850	T	0.953105	0.82105	D	0.09563979	0.22512	0.08255728	0.18852	0.09563979	0.22512	0.08255728	0.18852	-5.766	0.44277	T	0.14910333231880496	0.17409	0.100	0.16973	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.732234	0.53391	23.4	0.99860071404594697	0.93820	0.93707	0.58961	D	AEFBI	0.715359	0.66754	D	0.368689261692438	0.59733	4.155224	0.400695464230257	0.61608	4.363328	0.999999998487614	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.723	0.93126	0	.	.	4.61	4.61	0.56724	5.250000	0.65252	4.034000	0.41364	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.964000	0.52637	0.0:1.0:0.0:0.0	17.584	0.87875	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1627.33	33	chr21	25911825	.	C	T	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=742;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.172;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	18	0	1	0
chr21	26468605	26468605	C	G	exonic	CYYR1	.	nonsynonymous SNV	CYYR1:NM_001320768:exon4:c.G364C:p.E122Q,CYYR1:NM_052954:exon4:c.G361C:p.E121Q	.	417	1098	2	0	5	7	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0248084669113	0.0005	0.000798722	0.0007	0	0.0003	0	0	0.0011	0	0.0002	0.0006533	101	154602	rs140249086	0.0009	0.0009	0.0009	0.0008	0.0016	0.0008	0.0008	0.0010	0.0010	5.986e-05	0.0006	0.0006	0	3.756e-05	0.0016	0.0010	0.0008	0.0001	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0010	0.0010	9.636e-05	0	0.0008	0.0020	0	9.463e-05	0	0.0013	0.0005	0	0.0	0.91255	D	0.067	0.44302	T	0.657	0.40850	P	0.229	0.38155	B	0.000000	0.84330	D	0.000000	0.983615	0.81001	D	1.1	0.28011	L	1.05	0.39990	T	-2.48	0.54059	N	0.448	0.48596	-0.7467	0.58107	T	0.215	0.57613	T	10	0.025733769	0.00759	T	0.024808	0.47795	T	0.170	0.43303	.	.	0.355242300401	0.35136	0.537518164338733	0.53676	0.326001465855	0.34754	0.537874102592	0.44145	T	0.090101	0.38513	T	-0.311541	0.07613	T	-0.276632	0.47148	T	0.122694671154022	0.14691	T	0.748325	0.36895	T	0.62720555	0.74149	0.4720059	0.69390	0.62720555	0.74150	0.4720059	0.69390	-2.181	0.03949	T	.	.	0.167	0.36772	B	.	.	4.183112	0.62987	24.5	0.9980737987371755	0.89174	0.85847	0.45027	D	AEFBI	0.501633	0.53439	D	0.344164117947522	0.58432	4.015418	0.293202052084367	0.55141	3.67754	0.999521191472815	0.40175	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	4.305000	0.58905	6.895000	0.56853	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	12.223	0.53759	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1981.83	35	chr21	26468605	.	C	G	1981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.45;DP=754;ExcessHet=0.119;FS=2.105;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.28;SOR=0.916	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr21	26844300	26844300	C	T	exonic	ADAMTS1	.	nonsynonymous SNV	ADAMTS1:NM_006988:exon1:c.G655A:p.G219R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0217578427858	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001229	19	154602	rs551514906	8.372e-05	8.619e-05	4.232e-05	0.0001	0.0013	7.159e-05	6.706e-05	0.0011	0.0010	0	0	0	0	0	0.0007	4.501e-06	4.982e-05	0.0013	5.251e-05	5.249e-05	2.569e-05	8.055e-05	0.0017	2.555e-05	1.828e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.624	0.05245	T	0.269	0.22426	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.14	0.60854	T	-0.39	0.13611	N	0.226	0.25377	-1.0254	0.21952	T	0.076	0.30397	T	9	0.009759486	0.00219	T	0.021758	0.44572	T	0.027	0.05988	0.283	0.23961	0.466077763902	0.46236	0.4186721125783169	0.41783	0.303424544724	0.32666	0.470956265926	0.34812	T	0.055819	0.30115	T	-0.449376	0.01139	T	-0.468715	0.25655	T	0.027855861443583	0.01666	T	0.553245	0.19112	T	0.063956656	0.13522	0.04639312	0.06456	0.063956656	0.13522	0.04639312	0.06455	-5.753	0.44163	T	.	.	0.083	0.09143	B	.	.	1.047888	0.14288	10.87	0.92118220720296362	0.21473	0.01496	0.04962	N	ALL	0.066899	0.13125	N	-1.28728115797552	0.03828	0.1716906	-1.32728983689197	0.04081	0.1917497	0.999999999823	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.621717	0.48901	0	.	.	1.23	1.23	0.20358	0.904000	0.28114	0.329000	0.17264	0.520000	0.23804	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	7.929	0.29051	828	0.39726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1304.33	94	chr21	26844300	.	C	T	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.27;DP=1270;ExcessHet=0;FS=0.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=-0.368;SOR=0.754	GT:AD:DP:GQ:PL	0/1:27,51:78:99:1318,0,635	18	0	1	0
chr21	28883033	28883033	A	G	exonic	N6AMT1	.	nonsynonymous SNV	N6AMT1:NM_013240:exon2:c.T173C:p.V58A,N6AMT1:NM_182749:exon2:c.T173C:p.V58A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00995647597844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.841e-07	0	1.381e-06	1.17e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.129	0.34837	T	0.215	0.32101	B	0.188	0.36237	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.26	0.17596	T	-2.29	0.50992	N	0.585	0.60833	-1.0462	0.15476	T	0.034	0.14639	T	10	0.53591335	0.63446	D	0.009956	0.25923	T	0.172	0.43662	0.719	0.85408	0.294206760003	0.29026	0.7903093808865147	0.78982	0.19848012073	0.22230	0.666102051735	0.62282	T	0.102302	0.40989	T	0.011137	0.53180	T	-0.221779	0.52566	T	0.889190673828125	0.53986	D	0.990615	0.97081	D	0.7893124	0.83230	0.6505039	0.79552	0.7893124	0.83232	0.6505039	0.79553	-7.172	0.55280	T	.	.	0.340	0.55916	A	.;.	.;.	3.165021	0.42900	21.6	0.99202497143628521	0.55321	0.98043	0.79119	D	AEFGBI	0.741974	0.68574	D	0.0336187183562653	0.43390	2.632852	0.202314417641681	0.49977	3.194558	0.99999999975274	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	6.973000	0.75901	11.095000	0.86003	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	1.0:0.0:0.0:0.0	14.285	0.65792	964	0.07719	Methyltransferase small domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	420.33	34	chr21	28883033	.	A	G	420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.453;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.11;SOR=0.646	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr21	28943668	28943668	T	C	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon22:c.A4177G:p.K1393E,LTN1:NM_015565:exon23:c.A4219G:p.K1407E	.	.	.	.	.	.	.	.	0.9953	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00848075332969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359262006	2.804e-06	2.737e-06	5.598e-06	0	0.0002	6.6e-07	4.4e-07	1.783e-05	8.94e-06	0	6.722e-05	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51248	D	0.01	0.65728	D	0.996	0.68779	D	0.923	0.65830	D	0.000000	0.84330	D	0.051740	0.999999	0.58761	D	2.28	0.64929	M	2.12	0.19860	T	-1.64	0.39314	N	0.7	0.71321	-1.1051	0.03527	T	0.073	0.29419	T	10	0.49839425	0.61402	T	0.008481	0.22432	T	0.187	0.46274	0.375	0.38830	0.143184338766	0.13958	0.5276165839940974	0.52685	1.02385248227	0.75201	0.685943603516	0.65123	T	0.168715	0.51582	T	-0.0695506	0.41400	T	-0.140038	0.60114	T	0.891304612159729	0.54224	D	0.891911	0.62748	D	0.3985861	0.60634	0.31856158	0.57823	0.3985861	0.60635	0.31856158	0.57822	-4.427	0.29921	T	.	.	0.407	0.59975	A	.;.;.	.;.;.	5.309426	0.89129	29.9	0.99876166920241416	0.95328	0.71449	0.35018	D	AEFBHCIJ	0.919998	0.89133	D	0.503163048028875	0.67276	5.060151	0.526760408150885	0.69796	5.411861	0.999999999999756	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	4.68	4.68	0.58319	7.425000	0.79444	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.588	0.67939	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	37	chr21	28943668	.	T	C	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=698;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.78;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	18	0	1	0
chr21	29037439	29037440	AT	-	exonic	USP16	.	frameshift deletion	USP16:NM_001001992:exon6:c.609_610del:p.C204Ffs*16,USP16:NM_006447:exon6:c.612_613del:p.C205Ffs*16,USP16:NM_001032410:exon7:c.612_613del:p.C205Ffs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339585128	1.386e-06	1.368e-06	0	2.79e-06	2.454e-05	2.3e-07	9e-08	.	.	0	2.454e-05	0	0	0	0	0	0	1.241e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2073.29	35	chr21	29037438	.	CAT	C	2073.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.165;DP=755;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.42;SOR=0.953	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	18	0	1	0
chr21	29062139	29062139	C	T	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon10:c.G982A:p.V328I,CCT8:NM_001282908:exon11:c.G1048A:p.V350I,CCT8:NM_006585:exon11:c.G1201A:p.V401I,CCT8:NM_001282907:exon12:c.G1144A:p.V382I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.012684035955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.153	0.32144	T	0.009	0.15093	B	0.009	0.14300	B	0.000281	0.46590	N	0.185154	0.996649	0.43328	D	1.39	0.34934	L	-1.2	0.78537	T	-0.86	0.23372	N	0.246	0.28616	-0.5459	0.66941	T	0.328	0.69631	T	10	0.2778936	0.45357	T	0.012684	0.31464	T	0.224	0.52174	0.462	0.53079	0.433221091474	0.42940	0.4136180740751105	0.41277	0.145016126387	0.16386	0.665733397007	0.62229	T	0.268058	0.64014	T	-0.0454185	0.45142	T	-0.303017	0.44406	T	0.853407323360443	0.50462	D	0.944306	0.78939	D	0.22779615	0.45487	0.16450755	0.38106	0.22779615	0.45487	0.16450755	0.38105	-8.229	0.65857	D	.	.	0.123	0.25689	B	.;.;.	.;.;.	2.989453	0.39905	21.1	0.99434143661799856	0.64423	0.94060	0.59991	D	AEFDGBCI	0.255453	0.37457	N	-0.046680612862538	0.39752	2.349264	0.0980967445047941	0.44453	2.726785	0.99999988511773	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.15	4.26	0.49832	3.676000	0.54347	4.009000	0.41144	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8476:0.0:0.1524	10.071	0.41505	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr21	29062139	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=703;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.03;SOR=0.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1330	18	0	1	0
chr21	29063514	29063514	T	C	exonic	CCT8	.	nonsynonymous SNV	CCT8:NM_001282909:exon7:c.A560G:p.K187R,CCT8:NM_001282908:exon8:c.A626G:p.K209R,CCT8:NM_006585:exon8:c.A779G:p.K260R,CCT8:NM_001282907:exon9:c.A722G:p.K241R	.	440	1075	7	0	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0268151337184	0.0006	0.00219649	0.0014	0.0002	0.0023	0	0.0002	0.0017	0.0044	0.0012	0.0013583	210	154602	rs139983851	0.0013	0.0013	0.0013	0.0013	0.0071	0.0012	0.0012	0.0054	0.0048	0.0002	0.0025	0.0052	0	0.0002	0.0071	0.0012	0.0017	0.0011	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0019	0.0017	0.0003	0	0.0025	0.0037	0	9.411e-05	0.0102	0.0012	0.0047	0.0010	0.226	0.19927	T	0.301	0.20422	T	0.696	0.41742	P	0.256	0.39259	B	0.000002	0.62929	D	0.134875	0.999994	0.58761	D	2.145	0.60081	M	-0.32	0.68181	T	-2.08	0.47514	N	0.286	0.33360	-0.4465	0.70515	T	0.291	0.66278	T	10	0.0084634125	0.00192	T	0.026815	0.49694	D	0.232	0.53354	.	.	0.447033504574	0.44327	0.44234095412281776	0.44151	0.190945093199	0.21410	0.567239880562	0.48288	T	0.432593	0.78031	T	-0.376657	0.03270	T	-0.320294	0.42542	T	0.0267913966580375	0.01515	T	0.979902	0.93529	D	0.60240364	0.72820	0.46811366	0.69146	0.60240364	0.72821	0.46811366	0.69147	-4.279	0.32045	T	.	.	0.095	0.17700	B	.;.;.	.;.;.	3.691859	0.52601	23.3	0.99829957502109545	0.91198	0.97779	0.77072	D	AEFBCI	0.897156	0.83903	D	0.476346966423615	0.65710	4.857076	0.538681291293889	0.70612	5.531113	0.999999999996558	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.546000	0.81086	7.838000	0.70402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.868	0.78857	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1405.33	49	chr21	29063514	.	T	C	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.787;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-1.082;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	18	0	1	0
chr21	29071990	29071995	TGTTGT	-	splicing	CCT8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451945016	2.197e-05	2.545e-05	2.797e-05	1.69e-05	6.26e-05	1.171e-05	9.25e-06	1.037e-05	5.5e-06	0	2.931e-05	0	6.26e-05	0	0	1.905e-05	3.294e-05	3.212e-05	3.309e-05	3.286e-05	0	6.778e-05	0.0006	1.268e-05	8.03e-06	0.0002	8.423e-05	0	0	0	0	0.0006	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	355.29	35	chr21	29071989	.	CTGTTGT	C	355.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.288;SOR=0.576	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1164	18	0	1	0
chr21	29327316	29327316	A	T	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon3:c.A1492T:p.I498F,BACH1:NM_206866:exon3:c.A1492T:p.I498F	.	432	1088	2	0	0	2	0.000918274	.	.	.	3190784	BACH1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.069	0.0413214529193	0.0009	0.00119808	0.0013	0.0008	0.0010	0	0	0.0017	0.0022	0.0013	0.001216	188	154602	rs151321858	0.0010	0.0010	0.0009	0.0010	0.0055	0.0009	0.0009	0.0040	0.0035	0.0005	0.0021	0.0220	0	1.872e-05	0.0055	0.0004	0.0024	0.0016	0.0014	0.0014	0.0011	0.0016	0.0040	0.0012	0.0012	0.0032	0.0029	0.0009	0	0.0040	0.0193	0	0	0.0136	0.0004	0.0019	0.0027	0.005	0.63226	D	0.063	0.45110	T	0.997	0.70673	D	0.888	0.63021	P	0.000018	0.62929	D	0.070468	0.999947	0.51968	D	2.38	0.68558	M	-0.71	0.72889	T	-1.31	0.32791	N	0.716	0.73105	-0.2372	0.76699	T	0.342	0.70729	T	10	0.010410577	0.00232	T	0.041321	0.59861	D	0.322	0.64420	.	.	0.910146174923	0.90925	0.19607768989685026	0.19524	0.604412416772	0.55380	0.708838045597	0.68426	T	0.18516	0.53805	T	-0.1449	0.29113	T	0.0129178	0.71171	D	0.0256120633752213	0.01354	T	0.893511	0.63097	D	0.15973087	0.35866	0.1709302	0.39238	0.15973087	0.35865	0.1709302	0.39238	-7.138	0.55035	T	.	.	0.207	0.43338	B	.;.	.;.	5.496218	0.91538	32	0.98843912826624536	0.47169	0.81493	0.40885	D	AEFDBCI	0.287083	0.39932	N	0.577245395748119	0.71757	5.69954	0.584498164258986	0.73830	6.034801	0.999999968259177	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	3.720000	0.54661	11.190000	0.88630	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	1.0:0.0:0.0:0.0	15.58	0.76168	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.004076	0.011696	0.050000	0.008621	0.000000	0.000000	0.02632	2481.33	34	chr21	29327316	.	A	T	2481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.952;DP=824;ExcessHet=0;FS=2.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.551;SOR=0.905	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	18	0	1	0
chr21	30215474	30215474	G	A	exonic	CLDN8	.	nonsynonymous SNV	CLDN8:NM_199328:exon1:c.C452T:p.S151L	.	.	.	.	.	.	.	.	.	.	.	3306650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.0329379152903	.	.	9.109e-05	0	8.684e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs769259130	8.688e-05	8.687e-05	8.849e-05	8.526e-05	0.0001	7.421e-05	6.969e-05	9.115e-05	8.526e-05	2.987e-05	6.708e-05	0	0	0	0	0.0001	4.968e-05	1.159e-05	6.576e-05	6.568e-05	3.855e-05	9.426e-05	0.0001	3.519e-05	2.618e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.004	0.12183	B	0.006	0.12133	B	0.000001	0.84330	D	0.056944	0.961058	0.26122	N	0.305	0.10234	N	-2.5	0.89219	D	-1.95	0.45222	N	0.261	0.29544	-0.4096	0.71723	T	0.481	0.80185	T	10	0.18960968	0.34568	T	0.032938	0.54627	D	0.372	0.69102	0.548	0.66296	0.86219379781	0.86086	0.6671098506881097	0.66648	0.0585518923668	0.06494	0.590660214424	0.51587	T	0.322479	0.69348	T	-0.147985	0.28628	T	-0.195301	0.55092	T	0.24677651140299	0.22729	T	0.945705	0.79334	D	0.4023494	0.60895	0.41432354	0.65579	0.4023494	0.60896	0.41432354	0.65579	-5.471	0.41596	T	.	.	0.187	0.40424	B	.	.	3.801111	0.54768	23.5	0.99685569152397246	0.79574	0.99102	0.91255	D	AEFBI	0.912562	0.87335	D	-0.0759250273294149	0.38452	2.252206	0.0861485902657875	0.43849	2.678353	0.99999999999995	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	9.894000	0.98600	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:1.0:0.0	18.110	0.89462	439	0.80177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2287.33	33	chr21	30215474	.	G	A	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.958;DP=790;ExcessHet=0;FS=0.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.569;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr21	30501993	30501993	C	A	exonic	KRTAP19-5	.	nonsynonymous SNV	KRTAP19-5:NM_181611:exon1:c.G98T:p.R33L	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00726843108916	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0.0011	6.056e-05	0.0001229	19	154602	rs138658815	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	0	0.0002	0.0012	0	0	0.0016	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	6.539e-05	0.0014	0	0	0	0.0003	0.0005	0	0.044	0.41096	D	0.634	0.07105	T	0.061	0.23190	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.99	0.09262	T	-5.33	0.84601	D	0.33	0.37093	-0.9601	0.39162	T	0.018	0.07470	T	8	0.031684786	0.01306	T	0.007268	0.19280	T	0.028	0.06331	.	.	0.222439326576	0.21863	0.08295114810904555	0.08230	0.074319526664	0.08332	.	.	.	.	.	.	-0.463603	0.00933	T	-0.608875	0.12077	T	0.0436071120202541	0.04348	T	0.317868	0.06361	T	0.119612835	0.28161	0.15926506	0.37152	0.119612835	0.28161	0.15926506	0.37151	-7.051	0.54405	T	.	.	0.207	0.43297	B	.	.	-0.789881	0.01127	0.052	0.85553934471434612	0.15965	0.02861	0.07626	N	AEFGI	0.042442	0.06585	N	-0.903138403618526	0.10769	0.51622	-0.981320175199607	0.10205	0.5125032	3.38125927084742E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.9	-0.569	0.11168	-3.016000	0.00709	-5.485000	0.01701	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.222000	0.22517	0.1508:0.4362:0.147:0.2659	1.299	0.01950	306	0.87689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.007576	0.02632	7190.33	453	chr21	30501993	.	C	A	7190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1104;ExcessHet=0;FS=1.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-1.583;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1396	18	0	1	0
chr21	30561132	30561132	C	T	exonic	KRTAP19-7	.	nonsynonymous SNV	KRTAP19-7:NM_181614:exon1:c.G158A:p.C53Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0002	0.00758786	0.0024	0.0003	0.0002	0.0317	0	7.492e-05	0.0033	0.0006	0.0024062	372	154602	rs148576261	0.0008	0.0008	0.0008	0.0008	0.0224	0.0008	0.0007	0.0212	0.0207	0.0001	0.0002	0.0011	0.0224	0	0.0002	2.608e-05	0.0027	0.0006	0.0014	0.0014	0.0013	0.0015	0.0337	0.0012	0.0012	0.0296	0.0280	0.0004	0	0.0007	0.0012	0.0337	0	0	1.47e-05	0.0019	0.0008	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.118396	0.19116	N	0.439989	1	0.08975	N	.	.	.	2.88	0.10291	T	-7.0	0.93697	D	0.199	0.21969	-1.0119	0.26322	T	0.009	0.03227	T	9	0.0037075877	0.00068	T	.	.	.	0.101	0.28911	.	.	0.156986980423	0.15292	0.10803012981155469	0.10732	0.0256486937233	0.02623	.	.	.	0.128003	0.45538	T	-0.708602	0.00032	T	-0.764174	0.02965	T	0.0120941668020831	0.00192	T	0.370263	0.08727	T	0.38714388	0.59829	0.31113765	0.57122	0.38714388	0.59829	0.31113765	0.57121	-2.535	0.06025	T	.	.	0.113	0.22282	B	.	.	0.537982	0.09066	5.849	0.39556489227620517	0.02737	0.00863	0.03429	N	AEFI	0.017974	0.00510	N	-0.938466075732258	0.09953	0.4733922	-1.03363409278121	0.09050	0.4481958	8.72557609008411E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.99	-1.01	0.09650	-0.123000	0.10586	-2.142000	0.04151	0.533000	0.24879	0.058000	0.21700	0.000000	0.08366	0.003000	0.05239	0.1626:0.582:0.0:0.2553	4.691	0.12163	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3024.33	34	chr21	30561132	.	C	T	3024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=858;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.665;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1280	18	0	1	0
chr21	30561268	30561268	A	G	exonic	KRTAP19-7	.	nonsynonymous SNV	KRTAP19-7:NM_181614:exon1:c.T22C:p.Y8H	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00653779836341	0.0002	0.000199681	0.0006	0	0.0003	0	0	0.0003	0.0022	0.0030	0.0005692	88	154602	rs149420565	0.0010	0.0010	0.0009	0.0010	0.0023	0.0009	0.0009	0.0020	0.0019	0.0001	0.0001	0	0	3.744e-05	0.0014	0.0010	0.0009	0.0023	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0002	0	0	0	0	0	0	0.0007	0	0.0017	.	.	.	0.068	0.44106	T	0.986	0.61523	D	0.825	0.59331	P	0.090038	0.20396	U	0.356243	1	0.08975	N	.	.	.	2.85	0.10578	T	-2.48	0.54059	N	0.512	0.54322	-1.1127	0.02848	T	0.054	0.23034	T	9	0.015224546	0.00320	T	0.006538	0.17243	T	0.154	0.40340	.	.	0.260249123532	0.25628	0.051562333499586444	0.05098	0.0229737181384	0.02324	.	.	.	0.165477	0.51134	T	-0.525106	0.00411	T	-0.532293	0.19058	T	0.0906029618730083	0.11290	T	0.326667	0.06741	T	0.8208113	0.85275	0.6365257	0.78777	0.8208113	0.85276	0.6365257	0.78778	-7.915	0.60490	D	.	.	0.232	0.46505	B	.	.	3.112141	0.41986	21.5	0.64902982559230216	0.07622	0.72579	0.35520	D	AEFI	0.081984	0.16595	N	0.0780252900581195	0.45440	2.800405	-0.0696184712169114	0.36653	2.135815	0.00111051512364908	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	3.923000	0.56182	6.331000	0.55460	0.669000	0.69127	0.907000	0.31601	0.927000	0.28453	0.005000	0.06747	1.0:0.0:0.0:0.0	9.830	0.40101	507	0.75469	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3292.33	34	chr21	30561268	.	A	G	3292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.831;DP=878;ExcessHet=0;FS=2.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.811;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1280	18	0	1	0
chr21	30755152	30755152	T	C	exonic	KRTAP21-1	.	nonsynonymous SNV	KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C	.	427	1067	27	1	0	29	0.0134073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0010	0.00199681	0.0030	0.0002	0.0012	0.0001	0	0.0009	0.0055	0.0170	0.0025549	395	154602	rs148348278	0.0017	0.0017	0.0012	0.0023	0.0174	0.0017	0.0017	0.0167	0.0164	5.974e-05	0.0013	0.0014	2.519e-05	0	0.0104	0.0007	0.0019	0.0174	0.0012	0.0012	0.0008	0.0017	0.0122	0.0011	0.0010	0.0097	0.0088	0.0001	0	0.0029	0.0014	0	0	0	0.0010	0.0005	0.0122	0.0	0.91255	D	0.058	0.46182	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	-7.29	0.94457	D	0.6	0.61849	-1.0027	0.29139	T	0.073	0.29451	T	7	0.0084504485	0.00192	T	.	.	.	0.060	0.17295	.	.	0.130388298395	0.12655	0.05233386947642775	0.05175	0.0306325471804	0.03166	.	.	.	0.248699	0.61854	T	-0.413027	0.01898	T	-0.352435	0.38926	T	0.0423943778841176	0.04127	T	0.549145	0.18877	T	0.5183084	0.68162	0.5030433	0.71273	0.5183084	0.68163	0.5030433	0.71273	-2.464	0.05540	T	.	.	0.142	0.31151	B	.	.	2.593298	0.33647	19.40	0.84386920218165518	0.15262	0.02736	0.07409	N	AEFI	0.025934	0.01859	N	-0.700160313433485	0.16017	0.8124002	-0.721478876790158	0.16426	0.8689169	1.74057682139831E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	0.614	0.16778	0.098000	0.15027	-0.492000	0.08854	0.650000	0.52971	0.014000	0.18986	0.000000	0.08366	0.547000	0.30103	0.0:0.3482:0.0:0.6517	5.775	0.17542	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013086	0.010101	0.008152	0.010753	0.000000	0.017241	0.000000	0.041985	0.02632	967.33	34	chr21	30755152	.	T	C	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=697;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=0;QD=12.9;ReadPosRankSum=1.49;SOR=0.34	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1047	18	0	1	0
chr21	31560016	31560016	G	C	splicing	LOC150051	NM_001321023:exon2:c.336-1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0011	0.0196	0.0054	0	0	0.0006	0	0	0.000414	64	154602	rs149162435	0.0007	0.0004	0.0009	0.0006	0.0160	0.0007	0.0006	0.0138	0.0130	0.0160	0.0007	0	0	0	0.0040	0.0002	0.0018	0.0001	0.0047	0.0047	0.0049	0.0044	0.0155	0.0044	0.0043	0.0145	0.0141	0.0155	0	0.0024	0	0	0	0.0136	0.0003	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	782.33	33	chr21	31560016	.	G	C	782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=691;ExcessHet=0;FS=4.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.726;SOR=1.309	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	18	0	1	0
chr21	32274848	32274848	C	T	exonic	MIS18A	.	nonsynonymous SNV	MIS18A:NM_018944:exon2:c.G383A:p.R128H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00498472664904	.	0.000199681	1.748e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs557962061	1.027e-05	1.094e-05	4.089e-06	1.652e-05	5.81e-05	6.17e-06	4.89e-06	2.198e-05	1.433e-05	0	0	0	0	0	0	7.202e-06	3.315e-05	5.81e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.148	0.24857	T	0.067	0.44302	T	1.0	0.90584	D	0.897	0.63631	P	0.053827	0.22775	N	0.458006	0.952965	0.26420	N	1.735	0.44892	L	.	.	.	-1.25	0.31576	N	0.146	0.14763	-0.9758	0.35948	T	0.141	0.46202	T	9	0.10653967	0.19747	T	0.004985	0.12566	T	0.133	0.36157	0.279	0.23323	0.643704198215	0.64075	0.2616165216939375	0.26074	0.878278040654	0.69661	0.305462121964	0.11221	T	0.040913	0.25685	T	-0.17976	0.23772	T	-0.270288	0.47790	T	0.656301676768359	0.38734	D	0.832417	0.50060	T	0.047262456	0.08048	0.026244637	0.00704	0.047262456	0.08048	0.026244637	0.00704	-3.842	0.21433	T	.	.	0.107	0.20235	B	.	.	3.747887	0.53700	23.4	0.99884911577814517	0.96049	0.68875	0.33968	D	AEFBI	0.152484	0.27717	N	0.459590358353382	0.64747	4.736603	0.503397864006258	0.68219	5.189877	0.999991507049411	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	1.414000	0.34344	2.488000	0.32971	0.599000	0.40250	0.544000	0.27298	0.989000	0.31174	0.994000	0.71098	0.0:0.9161:0.0:0.0839	11.034	0.47008	916	0.20744	Yippee/Mis18/Cereblon|Mis18 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005155	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	827.33	37	chr21	32274848	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.795;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.767;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	18	0	1	0
chr21	32322486	32322486	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon33:c.G5332A:p.D1778N	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0086834347361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs184808667	2.286e-05	2.257e-05	1.691e-05	2.897e-05	0.0023	1.654e-05	1.416e-05	0.0013	0.0011	9.494e-05	0	0	0	0	0.0023	1.019e-05	5.157e-05	2.525e-05	1.971e-05	1.97e-05	0	4.035e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.083	0.33091	T	0.022	0.57587	D	1.0	0.90584	D	0.983	0.75793	D	0.000011	0.62929	N	0.176960	0.999863	0.50061	D	2	0.54354	M	1.31	0.35405	T	-1.88	0.43906	N	0.227	0.25499	-0.9041	0.47550	T	0.171	0.51277	T	10	0.21257818	0.37722	T	0.008683	0.22927	T	0.179	0.44899	0.503	0.59615	0.0920862733494	0.08535	0.30777526652253534	0.30690	.	.	0.427598953247	0.28881	T	0.008664	0.07944	T	-0.341228	0.05303	T	-0.600148	0.12799	T	0.309134483337402	0.25378	T	0.748625	0.36937	T	0.12138062	0.28544	0.10819351	0.26060	0.12138062	0.28544	0.10819351	0.26059	-2.47	0.05580	T	.	.	0.081	0.08129	B	.	.	3.647089	0.51738	23.1	0.997751357722924	0.86260	0.95622	0.65460	D	AEFBCI	0.490589	0.52801	N	0.130850224200627	0.47906	3.009874	0.0326269150795211	0.41241	2.474318	0.999999504171763	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.98	3.17	0.35510	4.305000	0.58905	3.276000	0.37195	-0.182000	0.10109	0.999000	0.42656	0.998000	0.33993	0.601000	0.31412	0.0:0.8479:0.0:0.1521	11.049	0.47093	913	0.21160	Nucleolar pre-ribosomal-associated protein 1, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008255	0.000000	0.027397	0.013393	0.000000	0.000000	0.000000	0.000000	0.02632	1664.33	34	chr21	32322486	.	C	T	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=786;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.739;SOR=0.976	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr21	32325266	32325266	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon31:c.C5084T:p.S1695L	.	427	1071	22	2	0	26	0.0119926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0064	0.00259585	0.0077	0.0014	0.0074	0	0.0118	0.0078	0.0083	0.0090	0.0024579	380	154602	rs187640762	0.0096	0.0092	0.0095	0.0096	0.0108	0.0094	0.0094	0.0107	0.0106	0.0011	0.0016	0.0037	0	0.0112	0.0058	0.0108	0.0067	0.0073	0.0063	0.0063	0.0066	0.0060	0.0104	0.0060	0.0058	0.0097	0.0095	0.0015	0.0461	0.0018	0.0032	0	0.0078	0	0.0104	0.0038	0.0044	0.013	0.53900	D	0.01	0.65728	D	0.999	0.77913	D	0.888	0.63021	P	0.000682	0.42383	D	0.247939	0.999315	0.46639	D	2.085	0.57729	M	1.44	0.32722	T	-2.59	0.55821	D	0.496	0.52918	-1.0803	0.07291	T	0.088	0.33941	T	10	0.007411152	0.00169	T	.	.	.	0.210	0.50028	.	.	0.306053231325	0.30222	0.28674390858258514	0.28587	.	.	0.460779994726	0.33417	T	0.025893	0.19273	T	-0.268634	0.11909	T	-0.146974	0.59511	T	0.0219318906154045	0.00901	T	0.926307	0.72903	D	0.22015028	0.44564	0.23339005	0.48527	0.22015028	0.44563	0.23339005	0.48526	-6.275	0.48524	T	.	.	0.144	0.31758	B	.	.	4.223106	0.63889	24.6	0.99906387673002273	0.97726	0.97257	0.73623	D	AEFBI	0.371978	0.45779	N	0.360970697471953	0.59322	4.110567	0.339786998012325	0.57893	3.957123	0.999996944409901	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.15	4.2	0.48814	3.500000	0.53078	5.560000	0.48915	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:0.1391:0.8609:0.0	15.437	0.74881	909	0.22467	Nucleolar pre-ribosomal-associated protein 1, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002427	0.000000	0.000000	0.000000	0.000000	0.000000	0.011494	0.000000	0.02632	1452.33	34	chr21	32325266	.	G	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.528;SOR=0.646	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1229	18	0	1	0
chr21	32347061	32347061	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon22:c.G3763A:p.A1255T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00530812636386	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs768691472	2.146e-06	3.42e-06	2.822e-06	1.45e-06	3.789e-05	5.7e-07	1.6e-07	1.006e-05	4.79e-06	0	0	0	0	0	0	0	0	3.789e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.146	0.32891	T	0.156	0.28196	B	0.037	0.23121	B	0.038041	0.24329	N	0.439992	1	0.08975	N	1.995	0.54099	M	1.52	0.30669	T	-0.07	0.08033	N	0.073	0.04668	-0.9752	0.36082	T	0.042	0.18243	T	10	0.04007852	0.02548	T	0.005308	0.13587	T	0.030	0.07022	0.334	0.32167	0.0846915920261	0.08053	0.12676823869543355	0.12602	.	.	0.284811943769	0.08172	T	0.001956	0.01365	T	-0.40907	0.02016	T	-0.621778	0.11047	T	0.0716964283474328	0.08887	T	0.418758	0.11073	T	0.030090509	0.02612	0.04805966	0.07059	0.030090509	0.02612	0.04805966	0.07058	-4.381	0.29298	T	.	.	0.083	0.09385	B	.	.	0.608044	0.09765	6.532	0.98334971998175125	0.40378	0.17242	0.19752	N	AEFDBCI	0.092477	0.18721	N	-1.04101929703325	0.07765	0.3618165	-1.08224334020554	0.08050	0.3941314	0.998780407416759	0.37667	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	3.78	-1.8	0.07480	0.017000	0.13294	-0.793000	0.07406	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.0929:0.1379:0.6971:0.0721	12.656	0.56151	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001193	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	1095.33	36	chr21	32347061	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.584;DP=700;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.67;ReadPosRankSum=-0.321;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	18	0	1	0
chr21	32366728	32366728	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon10:c.C1225T:p.R409W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0053	0.00459265	0.0017	0.0164	0	0	0	0.0001	0	0	0.0004851	75	154602	rs114244127	0.0005	0.0005	0.0005	0.0004	0.0179	0.0005	0.0004	0.0167	0.0162	0.0179	0.0009	0	0	0	0	1.298e-05	0.0010	3.787e-05	0.0046	0.0046	0.0046	0.0047	0.0164	0.0044	0.0042	0.0154	0.0150	0.0164	0	0.0010	0	0	0	0	1.47e-05	0.0038	0.0002	0.024	0.47745	D	0.023	0.57104	D	0.995	0.67487	D	0.332	0.42135	B	0.219838	0.16165	N	0.593502	0.939652	0.26830	N	1.61	0.41143	L	1.44	0.32722	T	-2.23	0.50012	N	0.364	0.40565	-1.0681	0.09836	T	0.034	0.14813	T	10	0.006718576	0.00152	T	.	.	.	0.128	0.35103	.	.	0.207176502487	0.20327	0.33090670721814003	0.33003	.	.	0.357366859913	0.19002	T	0.025243	0.18916	T	-0.427117	0.01543	T	-0.370705	0.36806	T	0.0453823880797565	0.04672	T	0.941906	0.78301	D	0.08349669	0.19283	0.097530484	0.23218	0.08349669	0.19283	0.097530484	0.23217	-6.103	0.47133	T	.	.	0.126	0.26576	B	.	.	4.432991	0.68763	25.3	0.99916059535264168	0.98379	0.91428	0.53513	D	AEFBI	0.572745	0.57620	D	0.384894497807325	0.60604	4.251035	0.442356195111858	0.64228	4.673156	0.999354477338089	0.39259	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.54	0.55220	2.733000	0.47032	6.420000	0.55612	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7683:0.2317	13.585	0.61389	931	0.16308	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001241	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2412.33	39	chr21	32366728	.	G	A	2412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=839;ExcessHet=0;FS=7.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.99;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr21	32372604	32372604	T	C	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon8:c.A904G:p.M302V	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00348801260327	0.0026	0.00339457	0.0026	0.0075	0	0.0067	0	0.0006	0	0.0039	0.0006015	93	154602	rs77293699	0.0007	0.0007	0.0007	0.0008	0.0103	0.0007	0.0007	0.0094	0.0090	0.0103	0.0005	0.0009	0.0003	2.031e-05	0.0053	0.0002	0.0019	0.0040	0.0027	0.0027	0.0029	0.0024	0.0084	0.0024	0.0024	0.0076	0.0074	0.0084	0	0.0008	0	0.0006	0	0.0068	0.0002	0.0028	0.0039	0.683	0.04391	T	0.196	0.27943	T	0.001	0.07471	B	0.003	0.08700	B	0.005067	0.33125	N	0.337573	0.632408	0.32802	D	0.69	0.16971	N	1.65	0.27650	T	0.16	0.05217	N	0.096	0.07673	-1.0239	0.22443	T	0.037	0.16073	T	10	0.006893933	0.00157	T	0.003488	0.07908	T	0.018	0.03083	.	.	0.12205267543	0.11705	0.26535585330796635	0.26448	.	.	0.257085978985	0.04550	T	0.001731	0.01158	T	-0.588251	0.00172	T	-0.611785	0.11840	T	0.00237065210002331	0.00025	T	0.60344	0.22635	T	0.021204103	0.00711	0.035834998	0.02910	0.021204103	0.00710	0.035834998	0.02909	-3.17	0.12117	T	.	.	0.06	0.00934	B	.	.	1.107415	0.14925	11.44	0.65536471741667146	0.07800	0.66333	0.33042	D	AEFBCI	0.092338	0.18694	N	-0.519274251706954	0.21458	1.138873	-0.413815534124483	0.24591	1.347478	0.999929484138418	0.46280	0.730579	0.87903	0	0.653731	0.59785	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	4.97	2.57	0.29928	0.943000	0.28628	0.887000	0.22442	0.665000	0.62972	0.992000	0.37556	1.000000	0.68203	0.789000	0.37270	0.0:0.1567:0.0:0.8433	8.961	0.35008	930	0.16408	Nucleolar pre-ribosomal-associated protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001238	0.000000	0.000000	0.004386	0.000000	0.000000	0.005618	0.013514	0.02632	758.33	38	chr21	32372604	.	T	C	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.839;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.155;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	18	0	1	0
chr21	32514918	32514918	C	T	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon6:c.C733T:p.R245C,EVA1C:NM_001286556:exon8:c.C1045T:p.R349C,EVA1C:NM_001320745:exon8:c.C769T:p.R257C,EVA1C:NM_058187:exon8:c.C1054T:p.R352C	.	414	1088	20	0	0	20	0.00910747	.	.	.	2824686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.059310702192	0.0004	0.00139776	0.0013	0.0002	0.0003	0	0	0.0002	0.0044	0.0079	0.0010673	165	154602	rs140738179	0.0006	0.0006	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	5.974e-05	8.944e-05	0	0	1.873e-05	0.0056	0.0001	0.0008	0.0078	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0002	0.0047	0.0041	9.632e-05	0	0.0002	0	0	9.427e-05	0	0.0002	0	0.0064	0.003	0.68238	D	0.004	0.76473	D	0.972	0.57405	D	0.386	0.44011	B	0.833929	0.09085	N	0.932365	1	0.08975	N	2.455	0.71248	M	0.72	0.50976	T	-2.69	0.60348	D	0.162	0.24010	-0.9615	0.38897	T	0.133	0.44622	T	10	0.003971368	0.00077	T	0.059311	0.67621	D	0.125	0.34456	.	.	0.348764635752	0.34483	0.1997479735440801	0.19891	0.624057549516	0.56626	0.227707535028	0.01802	T	0.062609	0.34113	T	-0.422678	0.01645	T	-0.374234	0.36395	T	0.0331481682805986	0.02497	T	0.868713	0.57175	D	0.2716026	0.50231	0.1502797	0.35449	0.2716026	0.50231	0.1502797	0.35449	-8.344	0.63391	D	.	.	0.116	0.23465	B	.;.;.	.;.;.	2.350888	0.30139	18.34	0.99776970401835641	0.86433	0.07127	0.13153	N	AEFDBI	0.096577	0.19493	N	-0.274995800252365	0.30118	1.676358	-0.422410300280141	0.24340	1.33237	0.999979703514277	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.61	2.65	0.30588	0.670000	0.24838	1.514000	0.27045	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.039000	0.14166	0.3919:0.413:0.1266:0.0684	4.888	0.13072	840	0.37365	EVA1 domain;EVA1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003539	0.005051	0.004087	0.002924	0.000000	0.000000	0.006135	0.000000	0.05263	3361.83	42	chr21	32514918	.	C	T	3361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.61;DP=921;ExcessHet=0.119;FS=0.449;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.09;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	17	0	2	0
chr21	32748639	32748639	T	C	exonic	PAXBP1	.	nonsynonymous SNV	PAXBP1:NM_013329:exon11:c.A1783G:p.I595V,PAXBP1:NM_016631:exon11:c.A1783G:p.I595V	.	.	.	.	.	.	.	.	.	.	.	2769144	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0120056470163	.	.	4.146e-05	0	0	0	0	6.033e-05	0.0011	0	3.23e-05	5	154602	rs768182808	9.579e-06	9.577e-06	6.808e-06	1.238e-05	2.989e-05	5.56e-06	4.35e-06	2.62e-06	1.68e-06	2.989e-05	0	0	0	0	0	6.296e-06	9.937e-05	0	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.129	0.26852	T	0.346	0.17696	T	0.276	0.31942	B	0.159	0.34693	B	0.000001	0.62929	D	0.056955	0.999954	0.52396	D	1.48	0.37141	L	0.99	0.41750	T	-0.29	0.12283	N	0.406	0.45331	-1.0633	0.10950	T	0.083	0.32440	T	10	0.21647564	0.38232	T	0.012006	0.30193	T	0.102	0.29158	0.604	0.73586	0.262679179196	0.25893	0.13196170892258097	0.13121	0.887596563285	0.70075	0.429081380367	0.29083	T	0.050006	0.28472	T	-0.231366	0.16468	T	-0.38859	0.34716	T	0.085723914206028	0.10702	T	0.916008	0.70013	D	0.07050383	0.15535	0.101054825	0.24181	0.07050383	0.15535	0.101054825	0.24180	-4.298	0.28149	T	.	.	0.096	0.15251	B	.;.	.;.	2.976111	0.39681	21.0	0.98908781234330523	0.48327	0.95735	0.65931	D	AEFBI	0.485675	0.52516	N	-0.049547656126074	0.39622	2.339601	0.137009790720932	0.46457	2.891422	0.999988764097093	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	5.082000	0.64281	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.549	0.75871	940	0.13648	GC-rich sequence DNA-binding factor-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	34	chr21	32748639	.	T	C	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=708;ExcessHet=0;FS=2.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.875;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	18	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.07895	2912.79	92	chr21	33252732	.	C	G	2912.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.18;DP=972;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.479;SOR=0.709	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	16	0	3	0
chr21	33488790	33488790	G	A	exonic	DNAJC28	.	nonsynonymous SNV	DNAJC28:NM_001040192:exon2:c.C604T:p.R202C,DNAJC28:NM_001320746:exon2:c.C604T:p.R202C,DNAJC28:NM_017833:exon2:c.C604T:p.R202C	.	427	1094	1	0	0	1	0.00045683	.	.	.	2360074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.591	0.0565661312173	0.0002	.	6.591e-05	0	0	0	0	0.0001	0	6.061e-05	6.47e-05	10	154602	rs143094354	8.69e-05	8.824e-05	0.0001	7.015e-05	0.0007	7.422e-05	6.971e-05	0.0002	0.0001	0.0001	6.721e-05	0.0013	2.52e-05	0	0.0007	5.486e-05	0.0003	4.644e-05	0.0001	0.0001	0.0001	0.0002	0.0005	9.748e-05	8.262e-05	0.0003	0.0002	2.408e-05	0	0.0005	0.0020	0	0	0.0068	5.883e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	.	.	.	-7.93	0.96269	D	0.886	0.91736	0.252	0.86781	D	0.560	0.83966	D	9	0.67142904	0.70736	D	0.056566	0.66650	D	0.591	0.83691	.	.	0.630985328677	0.62797	0.7132444548932934	0.71266	0.279923495073	0.30473	0.583127140999	0.50526	T	0.322716	0.69370	T	0.320046	0.84476	D	0.41363	0.92544	D	0.939452826976776	0.61093	D	.	.	.	0.7696587	0.82027	0.6766136	0.81009	0.7696587	0.82029	0.6766136	0.81009	-11.038	0.79866	D	.	.	0.472	0.66155	A	.;.;.;.	.;.;.;.	5.127578	0.85797	28.7	0.99932488782297857	0.99439	0.98103	0.79624	D	AEFI	0.929995	0.91660	D	0.793797715400844	0.85717	8.659955	0.69946824895608	0.82338	7.742411	0.997115728743956	0.35288	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	7.335000	0.78485	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.904	0.88832	924	0.18029	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2835.33	34	chr21	33488790	.	G	A	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=828;ExcessHet=0;FS=4.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=2.67;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	18	0	1	0
chr21	33550895	33550895	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1664T:p.T555M,SON:NM_032195:exon3:c.C1664T:p.T555M,SON:NM_138927:exon3:c.C1664T:p.T555M	ZTTK syndrome, Autosomal dominant	424	1096	2	0	0	2	0.000911577	.	.	.	717182	not_provided|SON-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.126	0.034583963634	0.0015	0.000798722	0.0024	0.0002	0.0003	0	0.0017	0.0032	0.0033	0.0032	0.0020569	318	154602	rs13049658	0.0019	0.0019	0.0019	0.0018	0.0031	0.0018	0.0018	0.0028	0.0027	0.0002	0.0002	3.831e-05	2.525e-05	0.0027	0.0014	0.0020	0.0013	0.0031	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0018	0.0004	0	6.533e-05	0	0	0.0024	0.0034	0.0023	0.0009	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.98	0.79672	D	0.000014	0.62929	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.51	0.16492	T	-2.09	0.49684	N	0.441	0.49420	-1.0769	0.07962	T	0.075	0.30303	T	10	0.009333074	0.00211	T	0.034584	0.55777	D	0.126	0.34673	.	.	0.179529687257	0.17594	0.1705605414197876	0.16976	0.374319196653	0.38897	0.680440545082	0.64331	T	0.047869	0.27850	T	-0.481618	0.00723	T	-0.467009	0.25839	T	0.0458613842970692	0.04759	T	0.80082	0.46649	T	0.14148048	0.32598	0.17205031	0.39431	0.1314538	0.30639	0.18266958	0.41208	-6.996	0.54005	T	0.4450038989314059	0.52983	0.157	0.34667	B	.;.;.	.;.;.	4.479588	0.69875	25.4	0.99654009776928976	0.77505	0.35817	0.25390	N	AEFDGBHCI	0.073280	0.14651	N	0.348749940001546	0.58674	4.041075	0.342038422355759	0.58030	3.971279	0.999999999718737	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	0.494000	0.22175	0.588000	0.19789	0.549000	0.26987	0.000000	0.06391	0.999000	0.35428	0.917000	0.45243	0.0:1.0:0.0:0.0	16.693	0.85186	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2116.33	35	chr21	33550895	.	C	T	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.55;SOR=0.632	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	18	0	1	0
chr21	33553573	33553573	T	A	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.T4342A:p.S1448T,SON:NM_032195:exon3:c.T4342A:p.S1448T,SON:NM_138927:exon3:c.T4342A:p.S1448T	ZTTK syndrome, Autosomal dominant	431	1089	2	0	0	2	0.000917431	.	.	.	1905605	SON-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00797534513492	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0001	0	0.0019	0.0002717	42	154602	rs370367458	0.0002	0.0002	9.665e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	6.708e-05	0	0	0	0.0014	5.755e-05	0.0002	0.0017	8.534e-05	8.53e-05	8.994e-05	8.054e-05	0.0010	4.953e-05	3.959e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0	0.0010	0.091	0.31987	T	0.235	0.24767	T	0.189	0.32229	B	0.039	0.29395	B	0.157363	0.17771	N	0.477071	1	0.21747	N	2.215	0.62545	M	2.87	0.12575	T	-1.09	0.31981	N	0.179	0.23506	-1.0317	0.19905	T	0.029	0.12497	T	10	0.016022295	0.00337	T	0.007975	0.21136	T	0.018	0.03083	.	.	0.318133320967	0.31420	0.0887227125919282	0.08805	0.116482205721	0.13144	0.373067677021	0.21272	T	0.022074	0.17084	T	-0.545446	0.00311	T	-0.59165	0.13523	T	0.0366839126216061	0.03100	T	0.711829	0.37593	T	0.08380482	0.19368	0.05793578	0.10618	0.07328641	0.16365	0.0556359	0.09796	-5.141	0.39456	T	0.25324479109016906	0.34257	0.072	0.16231	B	.;.;.	.;.;.	1.917277	0.24347	16.36	0.90474133461909456	0.19731	0.59041	0.30806	D	AEFDBCI	0.072918	0.14568	N	-0.67852530344957	0.16635	0.8492511	-0.690550914057241	0.17197	0.9132918	0.999999269880024	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	1.7	0.23359	1.342000	0.33524	1.034000	0.23503	-0.133000	0.13014	0.358000	0.25825	0.569000	0.25561	0.027000	0.12703	0.0:0.1982:0.1903:0.6115	3.746	0.08073	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2081.33	97	chr21	33553573	.	T	A	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.739;DP=1736;ExcessHet=0;FS=2.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.533;SOR=0.966	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	18	0	1	0
chr21	33811086	33811086	G	T	exonic	ITSN1	.	nonsynonymous SNV	ITSN1:NM_001331009:exon20:c.G2416T:p.A806S,ITSN1:NM_001331010:exon20:c.G2416T:p.A806S,ITSN1:NM_001331011:exon20:c.G2416T:p.A806S,ITSN1:NM_001331012:exon20:c.G2305T:p.A769S,ITSN1:NM_001001132:exon21:c.G2431T:p.A811S,ITSN1:NM_001331008:exon21:c.G2431T:p.A811S,ITSN1:NM_003024:exon21:c.G2431T:p.A811S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00679647234342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.25457	T	0.744	0.06109	T	0.01	0.35556	B	0.029	0.36391	B	0.134584	0.18511	N	0.598066	1	0.08975	N	0.29	0.10111	N	1.59	0.28836	T	-0.37	0.18877	N	0.134	0.16168	-1.0037	0.28844	T	0.029	0.12234	T	10	0.045093775	0.03541	T	0.006796	0.17953	T	0.016	0.02506	0.366	0.37361	0.389676119804	0.38580	0.314456600626202	0.31358	0.331145859836	0.35192	0.253390818834	0.04133	T	0.065495	0.32703	T	-0.300525	0.08611	T	-0.66946	0.07643	T	0.0940807819714183	0.11693	T	0.830717	0.50110	T	0.033256322	0.03508	0.052433874	0.08640	0.033256322	0.03508	0.052433874	0.08639	-7.301	0.58443	T	.	.	0.072	0.05890	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.567442	0.20069	14.57	0.92408838259634318	0.21823	0.18800	0.20407	N	AEFDBCI	0.295297	0.40545	N	-1.03671861132881	0.07851	0.366096	-1.08082024312105	0.08078	0.3956362	0.998820819939565	0.37755	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-1.71	0.07696	0.238000	0.17782	1.169000	0.24610	-0.106000	0.15538	0.000000	0.06391	0.003000	0.18671	0.672000	0.33309	0.6002:0.0:0.3998:0.0	12.954	0.57817	814	0.42100	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1031.33	35	chr21	33811086	.	G	T	1031.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=744;ExcessHet=0;FS=3.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.931;SOR=1.084	GT:AD:DP:GQ:PL	0/1:69,45:114:99:1045,0,1509	18	0	1	0
chr21	34669926	34669926	G	T	exonic	CLIC6	.	nonsynonymous SNV	CLIC6:NM_001317009:exon1:c.G538T:p.V180L,CLIC6:NM_053277:exon1:c.G538T:p.V180L	.	389	1132	1	0	0	1	0.000441501	.	.	.	728886	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.003	.	.	0.00878594	0.0041	0.0403	0	0	0	0	0	0	0.0008409	130	154602	rs201318042	0.0007	0.0006	0.0008	0.0007	0.0321	0.0007	0.0007	0.0302	0.0294	0.0321	0.0021	0	0	0	0.0007	1.868e-05	0.0021	3.654e-05	0.0072	0.0075	0.0075	0.0070	0.0250	0.0069	0.0067	0.0238	0.0232	0.0250	0	0.0041	0	0	0	0	1.481e-05	0.0024	0	0.079	0.33753	T	0.037	0.52060	D	0.175	0.31720	B	0.021	0.21085	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.92	0.23688	T	-0.44	0.14588	N	0.112	0.09914	-1.0361	0.18513	T	0.032	0.13767	T	9	0.0026577115	0.00041	T	.	.	.	0.003	0.00094	0.131	0.03577	0.27132560031	0.26736	0.04638457602276165	0.04582	1.98523485117	0.93674	0.57008600235	0.48690	T	0.021592	0.16786	T	-0.66893	0.00056	T	-0.716062	0.04989	T	0.00476208155007176	0.00051	T	0.30297	0.05734	T	0.045821797	0.07565	0.063261785	0.12507	0.045821797	0.07564	0.063261785	0.12506	-7.591	0.58875	D	.	.	0.189	0.43032	B	.;.	.;.	0.569676	0.09383	6.162	0.8541067408982409	0.15876	0.02297	0.06607	N	AEFDBHCI	0.051152	0.09011	N	-1.08547090166654	0.06910	0.3194741	-1.17838721528614	0.06272	0.3013845	0.999999865719519	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.2	-0.258	0.12334	-0.375000	0.07532	-0.246000	0.10547	0.322000	0.19397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3257:0.0:0.5317:0.1427	4.737	0.12373	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002634	0.005952	0.001412	0.002976	0.000000	0.000000	0.003185	0.003906	0.02778	709.71	33	chr21	34669926	.	G	T	709.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.67;DP=947;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.18;MQRankSum=0.551;QD=8.87;ReadPosRankSum=-0.36;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,101,1543:.	17	0	1	1
chr21	36070297	36070297	A	C	exonic	CBR1	.	nonsynonymous SNV	CBR1:NM_001286789:exon1:c.A182C:p.Q61P,CBR1:NM_001757:exon1:c.A182C:p.Q61P	.	415	1102	5	0	0	5	0.00226347	.	.	.	2330111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.697	0.138333676129	.	.	2.629e-05	0	8.872e-05	0	0	0	0.0012	6.107e-05	1.94e-05	3	154602	rs746822383	3.217e-05	3.215e-05	2.725e-05	3.715e-05	0.0042	2.479e-05	2.222e-05	0.0029	0.0024	0	0	0	0	0	0.0042	5.396e-06	6.626e-05	0.0002	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	0	0	0.0002	0.01	0.61437	D	0.033	0.64786	D	0.076	0.63424	B	0.319	0.65306	B	0.000020	0.62929	D	0.158606	0.999995	0.58761	D	0.78	0.19475	N	-2.31	0.87750	D	-5.65	0.88361	D	0.441	0.48596	0.038	0.83004	D	0.607	0.86068	D	10	0.3569709	0.52423	T	0.138334	0.82083	D	0.697	0.89053	0.519	0.62066	0.865145801497	0.86383	0.9434148744744044	0.94323	0.366187759751	0.38195	0.515165328979	0.40947	T	0.565264	0.85516	D	0.0994771	0.64235	D	0.141784	0.79661	D	0.767890930175781	0.44313	D	0.857514	0.55036	D	0.9449919	0.95755	0.8436536	0.91080	0.9449919	0.95756	0.8436536	0.91080	-8.402	0.64310	D	.	.	0.113	0.33203	B	.;.;.;.	.;.;.;.	3.641559	0.51634	23.1	0.99453190716115025	0.65376	0.87749	0.47394	D	ALL	0.929183	0.91453	D	0.1572067009137	0.49153	3.118983	0.179297387173088	0.48712	3.083622	0.999999999650248	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.73	1.87	0.24559	4.348000	0.59158	0.163000	0.15428	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.997000	0.79791	0.6852:0.0:0.0658:0.249	6.654	0.22167	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.005155	0.004076	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	1864.33	36	chr21	36070297	.	A	C	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.275;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.892;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	18	0	1	0
chr21	36230898	36230898	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon14:c.C2114T:p.S705F,DOP1B:NM_005128:exon14:c.C2114T:p.S705F	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0169337541332	0.0048	0.00219649	0.0034	0.0015	0.0027	0	0.0056	0.0049	0.0077	0.0001	0.0035963	556	154602	rs145155731	0.0049	0.0049	0.0051	0.0048	0.0057	0.0048	0.0048	0.0055	0.0055	0.0013	0.0035	0.0018	2.519e-05	0.0056	0.0040	0.0057	0.0054	0.0002	0.0040	0.0040	0.0044	0.0035	0.0056	0.0037	0.0036	0.0052	0.0050	0.0019	0	0.0052	0.0023	0	0.0040	0.0034	0.0056	0.0047	0.0002	0.005	0.63226	D	0.007	0.69154	D	0.016	0.17332	B	0.017	0.18140	B	0.001379	0.39242	N	0.294400	0.982567	0.39907	D	2.255	0.64187	M	2.65	0.12676	T	-2.28	0.50830	N	0.715	0.71765	-1.1143	0.02725	T	0.037	0.15770	T	10	0.009980291	0.00224	T	0.016934	0.38413	T	0.157	0.40909	.	.	0.20549828249	0.20151	0.5946650929862937	0.59396	0.735651689387	0.62965	0.40223544836	0.25380	T	0.170529	0.51831	T	-0.337314	0.05576	T	-0.254693	0.49352	T	0.0267349145722985	0.01507	T	0.910909	0.68443	D	0.1512572	0.34395	0.17712888	0.40294	0.1512572	0.34395	0.17712888	0.40293	-4.735	0.33824	T	.	.	0.179	0.38959	B	.	.	3.194680	0.43421	21.7	0.98681960457422935	0.44624	0.92674	0.56270	D	AEFBI	0.194915	0.32198	N	-0.0613996980696069	0.39096	2.300047	0.0464658128436942	0.41901	2.525178	0.90946653913008	0.26313	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	5.009000	0.63753	7.576000	0.60835	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:1.0:0.0:0.0	19.589	0.95494	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1793.33	34	chr21	36230898	.	C	T	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.007;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	18	0	1	0
chr21	36263628	36263628	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon25:c.C5398T:p.P1800S,DOP1B:NM_005128:exon25:c.C5398T:p.P1800S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.0987784655091	0.0002	.	3.295e-05	9.623e-05	0	0	0	4.495e-05	0	0	2.59e-05	4	154602	rs375198543	5.746e-05	5.746e-05	6.806e-05	4.675e-05	7.194e-05	4.743e-05	4.366e-05	5.884e-05	5.451e-05	5.974e-05	0	0	0	1.872e-05	0	7.194e-05	1.656e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.15	0.65192	T	-6.4	0.91184	D	0.799	0.79503	-0.1205	0.79622	T	0.498	0.81024	T	10	0.8288457	0.82054	D	0.098778	0.76998	D	0.432	0.73807	.	.	0.743204782601	0.74089	0.5038374089214765	0.50305	0.727690530168	0.62576	0.66296517849	0.61833	T	0.287302	0.66010	T	0.0532968	0.58766	T	0.0203086	0.71649	D	0.90575760602951	0.55959	D	0.947205	0.79675	D	0.64212483	0.74944	0.69854134	0.82244	0.64212483	0.74946	0.69854134	0.82244	-5.307	0.40012	T	.	.	0.418	0.60538	A	.	.	4.250115	0.64501	24.7	0.99888678581457757	0.96359	0.98802	0.87042	D	AEFDBI	0.692396	0.65207	D	0.76208319658511	0.83690	8.08372	0.69803395828845	0.82231	7.715689	0.999999999969228	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.83	5.83	0.93059	7.051000	0.76339	7.508000	0.59580	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	20.115	0.97926	841	0.37094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	34	chr21	36263628	.	C	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.707;DP=739;ExcessHet=0;FS=2.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.983;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	18	0	1	0
chr21	36386183	36386183	T	C	exonic	CHAF1B	.	nonsynonymous SNV	CHAF1B:NM_005441:exon2:c.T47C:p.V16A	.	435	1079	8	0	0	8	0.00369344	.	.	.	2824733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.817	0.174282421173	0.0042	0.00159744	0.0028	0.0007	0.0026	0	0.0027	0.0039	0.0066	0.0008	0.0027749	429	154602	rs143543321	0.0042	0.0042	0.0044	0.0040	0.0061	0.0041	0.0041	0.0048	0.0048	0.0007	0.0015	0.0042	0	0.0020	0.0061	0.0049	0.0041	0.0010	0.0027	0.0027	0.0029	0.0025	0.0046	0.0025	0.0024	0.0042	0.0040	0.0009	0	0.0012	0.0049	0	0.0014	0	0.0046	0.0019	0.0019	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.695	0.94570	H	-0.73	0.73100	T	-3.85	0.72353	D	0.827	0.82257	0.261	0.86931	D	0.512	0.81676	D	9	0.027602911	0.00904	T	0.174282	0.85072	D	0.817	0.94123	.	.	0.808841128825	0.80705	0.7311433982500816	0.73059	1.86911652642	0.92500	0.75436258316	0.75091	T	0.315172	0.68680	T	-0.0628726	0.42457	T	0.140637	0.79585	D	0.0960609113040382	0.11918	T	0.878612	0.59406	D	0.6977844	0.77935	0.65177816	0.79622	0.7321927	0.79849	0.66192806	0.80189	-12.608	0.87686	D	.	.	0.968	0.89140	P	.	.	5.329681	0.89445	30	0.99859151408010161	0.93729	0.90671	0.52042	D	AEFDGBCIJ	0.857451	0.77481	D	0.756171189959252	0.83308	7.983173	0.673593159700484	0.80377	7.285662	0.999999999995419	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.61	4.61	0.56724	7.577000	0.81779	7.713000	0.66906	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.701	0.62090	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.005435	0.000000	0.000000	0.017241	0.015244	0.003788	0.02632	1437.33	34	chr21	36386183	.	T	C	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.507;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1313	18	0	1	0
chr21	37121935	37121935	T	C	exonic	TTC3	.	nonsynonymous SNV	TTC3:NM_001330681:exon3:c.T89C:p.I30T,TTC3:NM_001330682:exon3:c.T89C:p.I30T,TTC3:NM_001353936:exon3:c.T89C:p.I30T,TTC3:NM_001001894:exon12:c.T1019C:p.I340T,TTC3:NM_001320703:exon12:c.T1085C:p.I362T,TTC3:NM_001320704:exon12:c.T1019C:p.I340T,TTC3:NM_001330683:exon12:c.T1019C:p.I340T,TTC3:NM_003316:exon12:c.T1019C:p.I340T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0124825034099	.	0.000199681	9.901e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs565122832	3.287e-05	3.352e-05	1.226e-05	5.369e-05	0.0005	2.546e-05	2.251e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.658e-05	0.0005	3.283e-05	3.281e-05	0	6.712e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.238	0.21304	T	0.318	0.33554	T	0.999	0.77913	D	0.991	0.79672	D	0.000022	0.55875	D	0.000000	0.574389	0.32321	D	2.175	0.60977	M	1.18	0.45636	T	-1.06	0.27669	N	0.394	0.43514	-0.8973	0.48264	T	0.118	0.41429	T	10	0.0757463	0.11746	T	0.012483	0.31090	T	0.104	0.29647	0.446	0.50466	0.637519714765	0.63453	0.13715096521318262	0.13639	0.362962845927	0.37937	0.583643436432	0.50598	T	0.016695	0.17012	T	-0.356851	0.04311	T	-0.388458	0.34731	T	0.280738472938538	0.24203	T	0.809319	0.46223	T	0.04787367	0.08254	0.053449895	0.09004	0.04787367	0.08254	0.053449895	0.09003	-3.411	0.15204	T	.	.	0.586	0.68305	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.269520	0.44751	22.0	0.99821336368143421	0.90414	0.70427	0.34586	D	AEFBI	0.103640	0.20759	N	0.326606800872803	0.57516	3.919403	0.355899550784648	0.58865	4.059727	0.228465794838558	0.18437	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.35	3.99	0.45527	1.960000	0.40046	4.087000	0.41779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1643:0.0:0.8357	6.592	0.21847	906	0.23090	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	33	chr21	37121935	.	T	C	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.604;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	18	0	1	0
chr21	38392418	38392418	A	G	exonic	ERG	.	nonsynonymous SNV	ERG:NM_001136155:exon6:c.T496C:p.S166P,ERG:NM_001243429:exon6:c.T424C:p.S142P,ERG:NM_001331025:exon6:c.T700C:p.S234P,ERG:NM_182918:exon7:c.T772C:p.S258P,ERG:NM_004449:exon8:c.T721C:p.S241P,ERG:NM_001136154:exon9:c.T793C:p.S265P,ERG:NM_001243428:exon9:c.T793C:p.S265P,ERG:NM_001243432:exon9:c.T793C:p.S265P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.010159857368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.32453	T	0.179	0.44302	T	0.002	0.19556	B	0.005	0.18783	B	0.004793	0.33389	N	0.283163	1	0.81001	D	1.63	0.41750	L	2.45	0.15724	T	-1.55	0.43524	N	0.691	0.74371	-1.0376	0.18048	T	0.099	0.36856	T	10	0.5482459	0.64106	D	0.01016	0.26368	T	0.128	0.35103	0.236	0.16608	0.869303640231	0.86803	0.7031906357626659	0.70260	1.19930797931	0.80486	0.608542442322	0.54109	T	0.533343	0.83890	D	0.160644	0.70261	D	-0.00702281	0.69879	D	0.601437389850616	0.36458	D	0.722228	0.34027	T	0.37169892	0.58710	0.3220593	0.58149	0.37169892	0.58711	0.3220593	0.58148	-3.147	0.11843	T	.	.	0.079	0.12132	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.083567	0.41495	21.4	0.99698537402530008	0.80453	0.93118	0.57374	D	AEFBCI	0.901681	0.84866	D	0.190353975032746	0.50737	3.260834	0.339227270551105	0.57861	3.953639	0.99999999886364	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.85	5.85	0.93663	4.649000	0.61129	4.666000	0.44258	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.899	0.79144	917	0.20147	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	649.33	33	chr21	38392418	.	A	G	649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.879;DP=697;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.988;SOR=0.579	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1027	18	0	1	0
chr21	38805527	38805527	G	T	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_001256295:exon1:c.G181T:p.A61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352650130	4.405e-06	3.42e-06	1.729e-06	7.186e-06	0.0003	1.29e-06	9.4e-07	4.36e-06	1.63e-06	0	0	0	0	0	0.0003	0	4.838e-05	2.629e-05	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	849.33	36	chr21	38805527	.	G	T	849.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.093;DP=713;ExcessHet=0;FS=3.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.477;SOR=0.333	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	18	0	1	0
chr21	38818484	38818484	C	A	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon7:c.C649A:p.L217I,ETS2:NM_001256295:exon8:c.C1069A:p.L357I	.	421	1086	14	1	0	16	0.00731261	.	.	.	717205	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0082	0.00339457	0.0073	0.0014	0.0054	0	0.0024	0.0113	0.0088	0.0016	0.0070439	1089	154602	rs61735785	0.0095	0.0095	0.0098	0.0092	0.0128	0.0093	0.0093	0.0108	0.0107	0.0013	0.0061	0.0137	0	0.0034	0.0128	0.0109	0.0102	0.0015	0.0080	0.0080	0.0085	0.0074	0.0121	0.0076	0.0074	0.0114	0.0111	0.0017	0.0998	0.0075	0.0164	0	0.0021	0.0170	0.0121	0.0095	0.0021	0.583	0.59928	T	0.343	0.22694	T	0.908	0.56202	P	0.277	0.47795	B	0.084067	0.02385	N	2.205300	0.994471	0.42296	D	2.32	0.66415	M	2.48	0.41392	T	-0.36	0.14193	N	0.4	0.44187	-0.8262	0.53544	T	0.122	0.42336	T	10	0.005959183	0.00134	T	.	.	.	0.128	0.35103	.	.	0.469009519116	0.46530	0.5800921711861871	0.57938	0.351789939051	0.37014	0.452042520046	0.32223	T	0.377928	0.74101	T	-0.475445	0.00787	T	-0.445332	0.28213	T	0.0194060962257557	0.00645	T	0.646135	0.25753	T	0.08174536	0.18799	0.045773793	0.06232	0.08174536	0.18798	0.045773793	0.06231	-4.283	0.27938	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	1.887303	0.23973	16.22	0.98906433892934353	0.48290	0.92726	0.56396	D	AEFDGBCI	0.570496	0.57485	D	0.108724464065966	0.46869	2.920821	0.120562674685189	0.45603	2.820458	0.999999997871774	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	6.16	5.28	0.74118	2.587000	0.45793	4.072000	0.41672	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.045000	0.14751	0.1305:0.7322:0.1373:0.0	12.211	0.53688	566	0.70798	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.009511	0.002924	0.000000	0.017241	0.012195	0.000000	0.02632	2581.33	37	chr21	38818484	.	C	A	2581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.892;DP=885;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.99;SOR=0.562	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr21	38822837	38822837	C	T	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon10:c.C1358T:p.T453M,ETS2:NM_001256295:exon11:c.C1778T:p.T593M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0178926594854	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997447535	2.743e-06	3.42e-06	2.727e-06	2.758e-06	5.988e-05	6.4e-07	4.3e-07	9.92e-06	3.71e-06	5.988e-05	0	0	2.525e-05	0	0	0	1.66e-05	0	1.971e-05	1.97e-05	3.854e-05	0	7.235e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.08	0.41913	T	1.0	0.90584	D	0.824	0.59271	P	0.000028	0.55875	D	0.155857	0.999998	0.58761	D	2.375	0.68372	M	2.49	0.14531	T	-3.77	0.71397	D	0.476	0.51137	-1.1150	0.02673	T	0.087	0.33662	T	10	0.5400081	0.63665	D	0.017893	0.39762	T	0.256	0.56694	.	.	0.484162603407	0.48046	0.8984007642593622	0.89811	2.51732159824	0.97725	0.765520811081	0.76753	T	0.84386	0.96383	D	-0.0591713	0.43036	T	-0.322772	0.42270	T	0.994400084018707	0.85673	D	0.986901	0.95512	D	0.43697676	0.63207	0.31644407	0.57625	0.43697676	0.63207	0.31644407	0.57624	-8.542	0.64707	D	.	.	.	.	.	.;.	.;.	4.698760	0.75367	26.3	0.99895662793154727	0.96895	0.98206	0.80530	D	AEFDGBCI	0.851936	0.76881	D	0.731119712289585	0.81672	7.577537	0.727035480381786	0.84432	8.290066	0.999999999991292	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.62	5.62	0.85714	5.706000	0.68016	7.581000	0.60964	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	19.272	0.94000	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1501.33	33	chr21	38822837	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=747;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.023;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr21	39196839	39196839	T	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon41:c.A6230C:p.Q2077P,BRWD1:NM_033656:exon41:c.A6230C:p.Q2077P	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0190029284877	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	6.058e-05	0.0001811	28	154602	rs144838294	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0005	0	0	0	0.0010	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.235e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0002	0.0019	0	0.003	0.68238	D	0.135	0.34124	T	0.0	0.02946	B	0.0	0.04355	B	0.327702	0.14166	N	0.676716	1	0.08975	N	2.85	0.82803	M	0.44	0.56609	T	-1.37	0.33998	N	0.183	0.20528	-0.9001	0.47983	T	0.160	0.49363	T	10	0.04953718	0.04557	T	0.019003	0.41240	T	0.076	0.22200	.	.	0.415459976574	0.41164	0.0758745302321441	0.07523	0.0749102724654	0.08402	0.290679633617	0.09021	T	0.080299	0.36329	T	-0.35861	0.04208	T	-0.430929	0.29830	T	0.0786790838149721	0.09817	T	0.754725	0.37732	T	0.15031837	0.34226	0.2584686	0.51579	0.15031837	0.34226	0.2584686	0.51578	-3.387	0.18132	T	.	.	0.080	0.21277	B	.;.;.	.;.;.	1.731946	0.22045	15.46	0.99217590166516567	0.55808	0.33722	0.24897	N	AEDBI	0.136086	0.25663	N	-0.512046261042049	0.21690	1.152918	-0.486816393272712	0.22517	1.223342	0.999999877529994	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.32	4.14	0.47821	1.566000	0.36005	-0.082000	0.12165	0.665000	0.62972	0.040000	0.20979	0.001000	0.17328	0.996000	0.76049	0.0:0.0:0.1427:0.8573	12.212	0.53694	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	6226.81	35	chr21	39196839	.	T	G	6226.81	.	AC=2;AF=0.053;AN=38;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.12;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	18	1	0	0
chr21	39258522	39258522	C	G	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon18:c.G2036C:p.R679T,BRWD1:NM_033656:exon18:c.G2036C:p.R679T	.	.	.	.	.	.	.	.	.	.	.	2286266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0124829930591	0.0004	0.000199681	0.0003	9.61e-05	0.0005	0	0	0.0004	0.0011	0	0.0002652	41	154602	rs145883608	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0	0.0004	7.699e-05	0	0	0.0003	0.0004	0.0003	4.706e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.407e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.316	0.13879	T	0.571	0.09236	T	0.001	0.15535	B	0.004	0.14300	B	0.209853	0.16392	N	0.641961	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	0.12	0.05604	N	0.121	0.17691	-1.0194	0.23910	T	0.044	0.18989	T	10	0.015028924	0.00315	T	0.012483	0.31090	T	0.023	0.04649	.	.	0.459148520276	0.45539	0.23995892596176835	0.23909	0.775270139995	0.64992	0.209989860654	0.00811	T	0.045811	0.27236	T	-0.3829	0.02987	T	-0.455722	0.27065	T	0.00803478526776476	0.00095	T	0.759324	0.38363	T	0.043149844	0.06672	0.03179381	0.01818	0.043149844	0.06672	0.03179381	0.01818	-3.421	0.15340	T	.	.	0.072	0.04238	B	.;.;.	.;.;.	0.741392	0.11106	7.755	0.7878988189136642	0.12453	0.17121	0.19698	N	AEFDBI	0.075044	0.15058	N	-1.20875554369886	0.04870	0.2207873	-1.12349292824981	0.07253	0.3521049	0.989273726716082	0.31774	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.46	1.0	0.18999	-0.302000	0.08259	-0.125000	0.11680	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.630000	0.32157	0.0:0.464:0.1419:0.394	5.506	0.16144	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.000000	0.02632	1411.33	34	chr21	39258522	.	C	G	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=747;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.503;SOR=0.6	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1425,0,1639	18	0	1	0
chr21	39280226	39280226	G	A	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon9:c.C854T:p.S285F,BRWD1:NM_033656:exon9:c.C854T:p.S285F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0145727700331	.	.	1.671e-05	0	0	0	0	1.524e-05	0.0011	0	3.23e-05	5	154602	rs755910980	3.023e-05	3.01e-05	3.144e-05	2.901e-05	6.953e-05	2.291e-05	2.041e-05	2.545e-05	2.228e-05	0	6.953e-05	0	0	0	0	3.423e-05	3.325e-05	1.18e-05	5.915e-05	5.911e-05	5.14e-05	6.727e-05	7.35e-05	3.078e-05	2.211e-05	2.846e-05	1.858e-05	7.241e-05	0	6.551e-05	0	0	0	0	7.35e-05	0	0	0.07	0.37750	T	0.007	0.70582	D	0.125	0.53479	B	0.059	0.58472	B	0.022346	0.26651	N	0.360072	0.991259	0.41344	D	0.28	0.10031	N	2.26	0.17596	T	-4.31	0.76576	D	0.283	0.42639	-1.1247	0.02054	T	0.069	0.28213	T	10	0.2348162	0.40529	T	0.014573	0.34773	T	0.198	0.48105	0.554	0.67133	0.286597616719	0.28274	0.6057488202423631	0.60505	0.575274155209	0.53529	0.539735853672	0.44407	T	0.345223	0.71363	T	-0.260562	0.12834	T	-0.515201	0.20783	T	0.569314176361142	0.35209	D	0.908809	0.68110	D	0.11489996	0.27119	0.19527419	0.43196	0.11489996	0.27119	0.19527419	0.43195	-10.591	0.77369	D	.	.	0.137	0.29806	B	.;.;.	.;.;.	4.295588	0.65548	24.8	0.99815291231487513	0.89885	0.98461	0.83018	D	AEFBI	0.800632	0.72656	D	0.273687770867748	0.54818	3.646633	0.35489478667318	0.58802	4.05322	0.999992241109893	0.74766	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.37	4.48	0.53973	7.523000	0.80785	6.556000	0.55925	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0737:0.0:0.9263:0.0	13.783	0.62583	966	0.07191	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	46	chr21	39280226	.	G	A	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.478;DP=866;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.076;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	18	0	1	0
chr21	39413887	39413887	G	T	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384303:exon7:c.C745A:p.L249I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.75	4	chr21	39413887	.	G	T	34.75	.	AC=2;AF=0.083;AN=24;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.4523;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.37;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,71	11	1	0	7
chr21	39423019	39423019	G	C	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384292:exon3:c.C404G:p.S135C,LCA5L:NM_001384294:exon3:c.C404G:p.S135C,LCA5L:NM_001384311:exon3:c.C404G:p.S135C,LCA5L:NM_001384295:exon4:c.C404G:p.S135C,LCA5L:NM_001384296:exon4:c.C404G:p.S135C,LCA5L:NM_001384304:exon4:c.C404G:p.S135C,LCA5L:NM_001384306:exon4:c.C404G:p.S135C,LCA5L:NM_001384307:exon4:c.C404G:p.S135C,LCA5L:NM_001384308:exon4:c.C404G:p.S135C,LCA5L:NM_001384309:exon4:c.C404G:p.S135C,LCA5L:NM_001384312:exon4:c.C404G:p.S135C,LCA5L:NM_001384285:exon5:c.C794G:p.S265C,LCA5L:NM_001384286:exon5:c.C794G:p.S265C,LCA5L:NM_001384287:exon5:c.C794G:p.S265C,LCA5L:NM_001384289:exon5:c.C794G:p.S265C,LCA5L:NM_001384291:exon5:c.C794G:p.S265C,LCA5L:NM_001384293:exon5:c.C404G:p.S135C,LCA5L:NM_001384298:exon5:c.C794G:p.S265C,LCA5L:NM_001384302:exon5:c.C794G:p.S265C,LCA5L:NM_001384303:exon5:c.C404G:p.S135C,LCA5L:NM_001384305:exon5:c.C404G:p.S135C,LCA5L:NM_001384310:exon5:c.C404G:p.S135C,LCA5L:NM_001384313:exon5:c.C404G:p.S135C,LCA5L:NM_001384288:exon6:c.C794G:p.S265C,LCA5L:NM_001384300:exon6:c.C794G:p.S265C,LCA5L:NM_001384301:exon6:c.C794G:p.S265C,LCA5L:NM_152505:exon6:c.C794G:p.S265C,LCA5L:NM_001384297:exon7:c.C794G:p.S265C,LCA5L:NM_001384299:exon7:c.C794G:p.S265C	.	452	1052	17	1	0	19	0.0089496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0711192466756	0.0046	0.00459265	0.0054	0.0064	0.0079	0	0.0014	0.0062	0.0077	0.0043	0.0052522	812	154602	rs143415723	0.0050	0.0051	0.0051	0.0050	0.0177	0.0049	0.0049	0.0149	0.0139	0.0077	0.0058	0.0088	0	0.0017	0.0177	0.0052	0.0050	0.0043	0.0055	0.0055	0.0054	0.0057	0.0065	0.0052	0.0051	0.0059	0.0056	0.0065	0	0.0050	0.0084	0	0.0021	0.0136	0.0061	0.0076	0.0019	0.027	0.46513	D	0.011	0.64786	D	1.0	0.90584	D	0.939	0.67449	D	0.122150	0.18967	N	0.546917	1	0.08975	N	2.75	0.80375	M	-1.17	0.78199	T	-2.45	0.53577	N	0.319	0.36569	-0.3461	0.73666	T	0.477	0.79940	T	10	0.0043971837	0.00089	T	0.071119	0.71185	D	0.274	0.59007	.	.	0.819326359246	0.81762	0.04914171614576398	0.04857	0.398422057467	0.40901	0.341563373804	0.16672	T	0.127921	0.54569	T	-0.371508	0.03519	T	-0.300872	0.44632	T	0.0428231754674634	0.04205	T	0.691131	0.31676	T	0.17131634	0.37757	0.12516536	0.30160	0.17131634	0.37757	0.12516536	0.30159	-4.173	0.26359	T	.	.	0.151	0.33389	B	.;.;.;.	.;.;.;.	3.668052	0.52141	23.2	0.97883977970749392	0.36621	0.89234	0.49577	D	AEFDBI	0.562037	0.56978	D	0.312320264162313	0.56782	3.843372	0.178086605997455	0.48647	3.077948	0.999997632529466	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.06	4.17	0.48303	4.887000	0.62848	8.514000	0.77400	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.7043:0.2957	12.909	0.57564	941	0.13089	Lebercilin domain;Lebercilin domain;Lebercilin domain;Lebercilin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.020380	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	2754.83	33	chr21	39423019	.	G	C	2754.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=824;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.186;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1352	17	0	2	0
chr21	40296147	40296147	C	T	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon10:c.G2090A:p.R697Q,DSCAM:NM_001389:exon10:c.G2090A:p.R697Q	.	.	.	.	.	.	.	.	.	.	.	2824759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.015218647254	0.0002	0.000199681	0.0008	0.0001	8.67e-05	0	0	0.0004	0	0.0044	0.0006856	106	154602	rs201055760	0.0004	0.0004	0.0003	0.0004	0.0030	0.0003	0.0003	0.0027	0.0026	0.0001	0.0003	0.0033	2.52e-05	5.617e-05	0.0003	0.0001	0.0007	0.0030	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0002	0	0.0002	0.0032	0.0002	0	0	0.0001	0.0009	0.0023	0.705	0.04107	T	0.358	0.17064	T	0.001	0.07471	B	0.001	0.04355	B	0.003881	0.34365	N	0.312513	0.821827	0.34788	D	-0.26	0.03792	N	-0.24	0.66834	T	0.51	0.03824	N	0.154	0.15888	-0.9306	0.44051	T	0.097	0.36471	T	10	0.009082824	0.00205	T	0.015219	0.35825	T	0.104	0.29647	.	.	0.553129017008	0.54970	0.24934246753196318	0.24848	0.615893550756	0.56073	0.463892281055	0.33844	T	0.042302	0.26139	T	-0.503674	0.00545	T	-0.496551	0.22706	T	0.0262119200813843	0.01435	T	0.867613	0.56877	D	0.09333419	0.21919	0.079444565	0.17886	0.098282866	0.23179	0.066644914	0.13680	-6.672	0.51599	T	.	.	0.122	0.25527	B	.;.;.	.;.;.	4.028230	0.59550	24.1	0.94089067357616873	0.24244	0.66093	0.32959	D	AEFBI	0.135609	0.25600	N	-0.375189219747196	0.26355	1.437787	-0.0995574952620606	0.35410	2.048235	0.727352025258724	0.23003	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	2.296000	0.43245	3.238000	0.36948	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.979000	0.57723	0.0:0.846:0.154:0.0	13.798	0.62672	964	0.07719	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1580.33	33	chr21	40296147	.	C	T	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=759;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.86;SOR=1.051	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr21	41859079	41859079	C	T	exonic	PRDM15	.	nonsynonymous SNV	PRDM15:NM_022115:exon10:c.G281A:p.R94H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0220057150202	.	.	3.451e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs768613637	2.099e-05	2.257e-05	2.496e-05	1.695e-05	3.654e-05	1.489e-05	1.292e-05	1.396e-05	1.166e-05	3.02e-05	0	0	0	0	0	2.097e-05	5.07e-05	3.654e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.182	0.29249	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.1	0.08283	T	-0.58	0.17417	N	0.05	0.02179	-0.9509	0.40816	T	0.012	0.04463	T	9	0.03820771	0.02223	T	0.022006	0.44852	T	0.017	0.02790	0.292	0.25400	0.043077524339	0.03247	0.1561941300524927	0.15540	0.552336542063	0.52049	0.245995640755	0.03358	T	0.021696	0.16853	T	-0.37781	0.03216	T	-0.780474	0.02439	T	0.035708797110279	0.02930	T	0.408659	0.10529	T	0.03142633	0.02981	0.028522212	0.01096	0.03142633	0.02980	0.028522212	0.01095	-4.417	0.29786	T	.	.	0.108	0.20430	B	.	.	-0.394995	0.02232	0.226	0.43780982241419397	0.03320	0.00697	0.02968	N	AEFDBHCI	0.016488	0.00374	N	-1.15115377236763	0.05760	0.2634749	-1.23264418670253	0.05393	0.2568556	0.994197102106415	0.33529	0.517182	0.21443	0	0.446627	0.06534	0	0.478664	0.07449	1	0.714379	0.83352	0	.	.	2.2	-0.243	0.12392	-1.409000	0.02589	-6.549000	0.01368	-0.394000	0.05329	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3195:0.3825:0.0:0.298	1.597	0.02505	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1726.33	136	chr21	41859079	.	C	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.816;DP=799;ExcessHet=0;FS=6.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=2.21;SOR=0.842	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:99:0|1:41918930_C_G:231,0,2954:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:99:0|1:41918930_C_G:231,0,2954:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:99:0|1:41918930_C_G:231,0,2927:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:41918930_C_G:252,0,2644:41918930	10	0	9	0
chr21	42084219	42084219	G	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon3:c.G455A:p.R152H,UMODL1:NM_001199527:exon3:c.G239A:p.R80H,UMODL1:NM_001199528:exon3:c.G239A:p.R80H,UMODL1:NM_173568:exon3:c.G455A:p.R152H	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	8.3e-05	0.0071885	0.0036	0.0002	0	0	0	3.039e-05	0	0.0258	0.0030659	474	154602	rs370412237	0.0014	0.0014	0.0008	0.0020	0.0219	0.0014	0.0013	0.0210	0.0207	0.0001	2.236e-05	0	2.519e-05	0	0.0017	4.317e-05	0.0020	0.0219	0.0008	0.0009	0.0006	0.0011	0.0243	0.0007	0.0007	0.0207	0.0194	0.0002	0	6.537e-05	0	0.0002	0	0	2.942e-05	0	0.0243	0.766	0.03451	T	0.539	0.09795	T	0.129	0.27048	B	0.012	0.16012	B	0.969028	0.08172	N	0.982509	1	0.08975	N	-1.255	0.00759	N	-0.8	0.73845	T	1.18	0.01107	N	0.059	0.03069	-0.9726	0.36648	T	0.098	0.36677	T	10	0.0031156242	0.00052	T	.	.	.	0.073	0.21317	.	.	0.278143212241	0.27437	0.19714979247188774	0.19631	0.36322866161	0.37955	0.207250520587	0.00700	T	0.016879	0.13870	T	-0.635297	0.00089	T	-0.667083	0.07796	T	0.0152652137219233	0.00336	T	0.524448	0.17180	T	0.018146686	0.00337	0.02143749	0.00195	0.018146686	0.00336	0.02143749	0.00195	-2.064	0.04040	T	.	.	0.096	0.28664	B	.;.;.;.	.;.;.;.	-1.264181	0.00470	0.010	0.37136119509756238	0.02429	0.00204	0.01168	N	AEFDBI	0.035202	0.04490	N	-1.73519044333638	0.00724	0.03127004	-1.8239507201402	0.00685	0.0305081	0.999987746214749	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.86	-7.71	0.01116	-1.772000	0.01885	-3.476000	0.02758	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2518:0.2278:0.3111:0.2094	0.742	0.00913	969	0.06854	.;.;.;WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.022727	0.05263	2680.81	42	chr21	42084219	.	G	A	2680.81	.	AC=2;AF=0.053;AN=38;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.46;SOR=1.071	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,109,1700	18	1	0	0
chr21	42103947	42103947	C	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon9:c.C1379T:p.A460V,UMODL1:NM_001199527:exon9:c.C1163T:p.A388V,UMODL1:NM_001199528:exon9:c.C1163T:p.A388V,UMODL1:NM_173568:exon9:c.C1379T:p.A460V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0123779472724	0.0027	0.00239617	0.0006	0.0067	0.0002	0	0	2.997e-05	0.0011	0	0.0006533	101	154602	rs112428028	0.0003	0.0003	0.0003	0.0002	0.0087	0.0003	0.0002	0.0079	0.0076	0.0087	0.0002	0	0.0002	0	0	2.158e-05	0.0012	3.478e-05	0.0021	0.0021	0.0023	0.0019	0.0070	0.0019	0.0018	0.0064	0.0061	0.0070	0	0.0008	0	0.0002	0	0	0	0.0076	0	0.018	0.51853	D	0.004	0.74150	D	0.999	0.90584	D	0.949	0.76457	D	0.050633	0.23053	N	0.298625	0.999994	0.20292	N	1.85	0.49092	L	1.08	0.39401	T	-2.41	0.53577	N	0.306	0.38541	-0.9085	0.47037	T	0.118	0.41407	T	10	0.0111683905	0.00245	T	0.012378	0.30901	T	0.119	0.33137	.	.	0.130388298395	0.12655	0.2231980897482002	0.22234	0.392667314243	0.40446	0.315308123827	0.12709	T	0.034762	0.23450	T	-0.535115	0.00358	T	-0.536445	0.18647	T	0.0186948339929764	0.00582	T	0.70513	0.31558	T	0.10218675	0.24143	0.14122424	0.33638	0.10218675	0.24143	0.14122424	0.33637	-7.905	0.60421	D	.	.	0.199	0.42229	B	.;.;.;.	.;.;.;.	3.723085	0.53211	23.3	0.99878415194925163	0.95491	0.08713	0.14602	N	AEFGBI	0.167188	0.29384	N	-0.58521073838447	0.19393	1.014615	-0.671841581221594	0.17667	0.940386	0.999907630673027	0.45458	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	3.49	2.61	0.30255	2.610000	0.45990	2.281000	0.31897	0.599000	0.40250	0.314000	0.25450	0.982000	0.30508	0.064000	0.16252	0.0:0.8882:0.0:0.1118	8.74	0.33713	982	0.03397	.;.;.;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	40	chr21	42103947	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.78;SOR=0.695	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr21	42110960	42110960	G	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon11:c.G1738T:p.A580S,UMODL1:NM_001199527:exon11:c.G1522T:p.A508S,UMODL1:NM_001199528:exon11:c.G1522T:p.A508S,UMODL1:NM_173568:exon11:c.G1738T:p.A580S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0343220629434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40832	D	0.165	0.30926	T	0.42	0.35330	B	0.198	0.36766	B	0.530934	0.05257	N	1.308000	1	0.08975	N	1.445	0.36358	L	-0.78	0.73739	T	-0.73	0.20576	N	0.098	0.13911	-0.9301	0.44124	T	0.208	0.56785	T	10	0.06468892	0.08616	T	0.034322	0.55594	D	0.019	0.03383	0.207	0.12356	0.340032825777	0.33618	0.2685073958579978	0.26763	0.194962813316	0.21832	0.24495652318	0.03255	T	0.00251	0.01904	T	-0.203177	0.20346	T	-0.529626	0.19324	T	0.142224037859417	0.16464	T	0.541546	0.18382	T	0.040688373	0.05853	0.04232381	0.05014	0.040688373	0.05853	0.04232381	0.05013	-3.309	0.14510	T	.	.	0.082	0.14293	B	.;.;.;.	.;.;.;.	0.065339	0.04751	1.375	0.68389418244821298	0.08644	0.11516	0.16686	N	AEFDBI	0.085010	0.17232	N	-1.13411265475762	0.06045	0.2772484	-1.1850433834914	0.06158	0.2955913	0.999678019174262	0.41644	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.83	0.891	0.18359	-0.055000	0.11763	0.635000	0.20265	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1012:0.0:0.5571:0.3417	5.657	0.16922	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1731.33	61	chr21	42110960	.	G	T	1731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.235;DP=1077;ExcessHet=0;FS=1.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=0.867;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	18	0	1	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.05263	3873.83	42	chr21	42111559	.	C	A	3873.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=2344;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.186;SOR=0.619	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	17	0	2	0
chr21	42115932	42115932	C	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon13:c.C2590T:p.R864C,UMODL1:NM_173568:exon13:c.C2806T:p.R936C,UMODL1:NM_001004416:exon14:c.C2422T:p.R808C,UMODL1:NM_001199528:exon14:c.C2206T:p.R736C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0222544389909	8.2e-05	.	4.97e-05	0	0	0.0001	0	5.996e-05	0	6.057e-05	3.88e-05	6	154602	rs375502641	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0002	2.087e-05	1.878e-05	2.116e-05	1.862e-05	0	0	0	7.557e-05	0	0.0002	2.968e-05	4.968e-05	1.159e-05	3.945e-05	3.94e-05	2.571e-05	5.385e-05	0.0002	1.716e-05	1.13e-05	2.263e-05	9.08e-06	2.415e-05	0	0.0001	0.0003	0.0002	0	0	1.47e-05	0	0	0.02	0.50132	D	0.102	0.38450	T	0.007	0.77913	B	0.001	0.61978	B	0.222644	0.03465	N	1.645210	1	0.08975	N	1.39	0.34934	L	0.98	0.42122	T	-1.51	0.38924	N	0.177	0.19055	-0.8022	0.55015	T	0.099	0.36983	T	9	0.0793235	0.12748	T	0.022254	0.45130	T	0.036	0.09122	.	.	0.262662153117	0.25859	0.33564717926661697	0.33477	0.509076387246	0.49044	0.247185900807	0.03477	T	0.004001	0.03413	T	-0.510624	0.00498	T	-0.74555	0.03661	T	0.0477274509853364	0.05094	T	0.633437	0.24975	T	0.061616875	0.12779	0.042733353	0.05158	0.061616875	0.12779	0.042733353	0.05158	-6.728	0.55882	T	.	.	0.117	0.36093	B	.;.;.;.	.;.;.;.	0.397617	0.07687	4.363	0.95589107427256148	0.27307	0.01024	0.03847	N	AEFBI	0.108377	0.21563	N	-1.6288324922303	0.01127	0.04896621	-1.83603025562199	0.00650	0.0289284	0.999999997356161	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.39	-8.78	0.00712	-1.463000	0.02467	-6.166000	0.01477	-1.978000	0.00464	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3961:0.1:0.3722:0.1317	4.091	0.09443	981	0.03995	.;.;.;SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1950.33	33	chr21	42115932	.	C	T	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.902;DP=791;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.355;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	18	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	7112.35	76	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	7112.35	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.47;DP=1155;ExcessHet=0.0526;FS=1.3;InbreedingCoeff=0.3493;MLEAC=5;MLEAF=0.147;MQ=59.76;MQRankSum=0;QD=16.09;ReadPosRankSum=1.21;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:47:99:.:.:681,763,1695:.	12	0	5	2
chr21	42447180	42447180	A	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.A1858G:p.I620V,UBASH3A:NM_018961:exon15:c.A1972G:p.I658V	.	421	1067	33	1	0	35	0.0161365	.	.	.	742656	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0038	0.00279553	0.0042	0.0007	0.0016	0	0	0.0048	0.0088	0.0095	0.0041073	635	154602	rs148149121	0.0043	0.0043	0.0041	0.0046	0.0149	0.0043	0.0042	0.0124	0.0114	0.0009	0.0021	0.0194	0	0.0001	0.0149	0.0040	0.0052	0.0100	0.0034	0.0034	0.0034	0.0033	0.0108	0.0031	0.0030	0.0084	0.0076	0.0011	0	0.0035	0.0210	0	0.0002	0.0136	0.0040	0.0052	0.0108	0.093	0.33923	T	0.152	0.33554	T	0.0	0.02946	B	0.0	0.01387	B	0.043025	0.23780	N	0.356002	1	0.81001	D	1.555	0.39373	L	3.08	0.08460	T	-0.46	0.15178	N	0.251	0.28381	-0.9208	0.45445	T	0.007	0.02399	T	10	0.0024763644	0.00037	T	.	.	.	0.039	0.10176	.	.	0.33835085245	0.33439	0.2641569883606941	0.26328	0.109189358208	0.12315	0.390287220478	0.23710	T	0.105175	0.41541	T	-0.635169	0.00089	T	-0.677191	0.07156	T	0.0105885998561583	0.00148	T	0.536546	0.18022	T	0.09261947	0.21733	0.06972154	0.14724	0.09261947	0.21733	0.06972154	0.14724	-4.441	0.30109	T	.	.	0.095	0.14797	B	.;.	.;.	1.072182	0.14545	11.11	0.80113903339197989	0.13051	0.59468	0.30924	D	AEFDBI	0.156703	0.28210	N	-0.914647396964375	0.10498	0.5019893	-0.809531213614776	0.14266	0.7444755	0.758839313926418	0.23477	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	1.14	0.19817	0.577000	0.23461	0.873000	0.22330	-0.083000	0.16234	0.988000	0.36536	0.967000	0.29559	0.031000	0.13245	0.4571:0.3086:0.0852:0.149	2.216	0.03717	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014113	0.010101	0.008152	0.020468	0.050000	0.008621	0.018293	0.018939	0.02632	828.33	34	chr21	42447180	.	A	G	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=717;ExcessHet=0;FS=4.427;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.6;SOR=0.354	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	18	0	1	0
chr21	42475905	42475905	C	T	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon7:c.G756A:p.M252I,RSPH1:NM_080860:exon8:c.G870A:p.M290I	Ciliary dyskinesia, primary, 24, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	243622	Primary_ciliary_dyskinesia|RSPH1-related_disorder	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.0187581651356	0.0015	0.000998403	0.0005	0.0053	0	0	0	0	0	0	0.000401	62	154602	rs140450252	0.0001	0.0001	0.0002	0.0001	0.0050	0.0001	0.0001	0.0043	0.0041	0.0050	0.0002	0	0	0	0	3.597e-06	0.0002	0	0.0012	0.0012	0.0013	0.0012	0.0044	0.0011	0.0010	0.0038	0.0036	0.0044	0	0.0002	0	0	0	0	0	0.0010	0	1.0	0.00964	T	0.654	0.09725	T	0.0	0.02946	B	0.0	0.01387	B	0.003627	0.00975	U	5.353470	1	0.08975	N	0.605	0.15622	N	0.47	0.56114	T	0.12	0.05604	N	0.113	0.10056	-0.9872	0.33298	T	0.056	0.23639	T	10	0.0035790205	0.00065	T	0.018758	0.40927	T	0.035	0.08770	0.194	0.10571	0.0401082797425	0.02173	0.06894763104192776	0.06832	0.105848872946	0.11968	0.331660985947	0.15185	T	0.029296	0.21023	T	-0.646894	0.00076	T	-0.700904	0.05776	T	0.00522784375999023	0.00056	T	0.346465	0.07620	T	0.041435644	0.06103	0.036071938	0.02980	0.03812313	0.05018	0.0565753	0.10133	-3.06	0.11159	T	.	.	0.102	0.25396	B	.;.	.;.	-0.874749	0.00968	0.038	0.30979609969867072	0.01722	0.00242	0.01343	N	AEFDBHCI	0.019139	0.00639	N	-1.75547451132621	0.00663	0.02862195	-1.82894207155153	0.00671	0.02984421	0.999986145042526	0.51787	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.39	-5.71	0.02218	-2.802000	0.00830	-8.946000	0.00890	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1337:0.2154:0.1453:0.5055	1.802	0.02887	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	932.33	38	chr21	42475905	.	C	T	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=762;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.517;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C,SLC37A1:NM_018964:exon16:c.A1243T:p.S415C	.	415	1060	45	2	0	49	0.0225911	.	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033233	0.005051	0.038043	0.052632	0.050000	0.077586	0.030488	0.015152	0.02632	2422.33	42	chr21	42565848	.	A	T	2422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.513;DP=876;ExcessHet=0;FS=2.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.674;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	18	0	1	0
chr21	42770776	42770776	G	A	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon12:c.G1013A:p.R338Q,PDE9A:NM_001001575:exon13:c.G1184A:p.R395Q,PDE9A:NM_001001576:exon13:c.G1013A:p.R338Q,PDE9A:NM_001001569:exon14:c.G1280A:p.R427Q,PDE9A:NM_001001572:exon14:c.G1043A:p.R348Q,PDE9A:NM_001001577:exon14:c.G1262A:p.R421Q,PDE9A:NM_001001568:exon15:c.G1283A:p.R428Q,PDE9A:NM_001001573:exon15:c.G1043A:p.R348Q,PDE9A:NM_001001578:exon15:c.G1358A:p.R453Q,PDE9A:NM_001001579:exon15:c.G1043A:p.R348Q,PDE9A:NM_001001571:exon16:c.G1361A:p.R454Q,PDE9A:NM_001001574:exon16:c.G1406A:p.R469Q,PDE9A:NM_001001581:exon16:c.G1463A:p.R488Q,PDE9A:NM_001001584:exon16:c.G1043A:p.R348Q,PDE9A:NM_001001585:exon16:c.G1043A:p.R348Q,PDE9A:NM_001001567:exon17:c.G1484A:p.R495Q,PDE9A:NM_001001570:exon17:c.G1505A:p.R502Q,PDE9A:NM_001001582:exon17:c.G1541A:p.R514Q,PDE9A:NM_001001583:exon17:c.G1586A:p.R529Q,PDE9A:NM_001315533:exon18:c.G1340A:p.R447Q,PDE9A:NM_002606:exon18:c.G1664A:p.R555Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0371855949455	0.0002	0.000199681	0.0002	0.0009	0.0004	0.0010	0	1.503e-05	0	0	0.000194	30	154602	rs150892798	8.279e-05	8.277e-05	9.94e-05	6.602e-05	0.0010	7.07e-05	6.62e-05	0.0008	0.0007	0.0010	0.0002	0	0.0003	5.618e-05	0	1.889e-05	0.0006	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.535e-05	0	0.0006	0	0	1.47e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.12996	B	0.0	0.04355	B	0.001636	0.38439	N	0.230720	0.860625	0.31708	N	-0.795	0.01629	N	-0.96	0.75553	T	0.75	0.03761	N	0.262	0.31702	-0.9249	0.44872	T	0.108	0.39246	T	10	0.025556058	0.00746	T	0.037186	0.57461	D	0.223	0.52023	.	.	0.571483254199	0.56815	0.09631086931500368	0.09563	0.314777063784	0.33761	0.207146048546	0.00696	T	0.046585	0.27467	T	-0.452444	0.01093	T	-0.468232	0.25707	T	0.00654600169578308	0.00073	T	0.920008	0.72522	D	0.07842556	0.17860	0.060012825	0.11360	0.07842556	0.17859	0.060012825	0.11360	-0.588	0.02337	T	.	.	0.061	0.01738	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.590079	0.20337	14.70	0.16907840004632141	0.00472	0.30721	0.24155	N	AEFBI	0.080752	0.16332	N	-0.866843498241647	0.11637	0.5627103	-0.722838416788932	0.16392	0.8669579	0.0668163245174717	0.15406	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.64	2.26	0.27418	5.457000	0.66411	2.446000	0.32792	0.676000	0.76740	1.000000	0.71638	0.901000	0.27973	0.026000	0.12556	0.8347:0.0:0.1653:0.0	7.959	0.29219	964	0.07719	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1524.33	33	chr21	42770776	.	G	A	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=773;ExcessHet=0;FS=8.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.195;SOR=1.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	18	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.015152	0.019022	0.005848	0.000000	0.008621	0.018293	0.015152	0.02632	941.33	34	chr21	43797658	.	A	G	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.163;DP=1350;ExcessHet=0;FS=3.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-0.128;SOR=1.034	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	18	0	1	0
chr21	44260807	44260807	G	A	exonic	DNMT3L	.	stopgain	DNMT3L:NM_013369:exon3:c.C139T:p.R47X,DNMT3L:NM_175867:exon3:c.C139T:p.R47X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	3.322e-05	9.697e-05	8.655e-05	0.0002	0	0	0	0	3.88e-05	6	154602	rs368058982	9.583e-06	1.026e-05	1.226e-05	6.88e-06	0.0001	5.56e-06	4.35e-06	4.907e-05	3.165e-05	5.974e-05	4.473e-05	0	0.0001	0	0	4.497e-06	0	0	3.286e-05	3.282e-05	2.571e-05	4.032e-05	0.0002	1.261e-05	7.98e-06	3.246e-05	1.913e-05	9.639e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004649	0.33526	N	0.227351	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.878	0.87590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0530005	0.43992	T	-0.0217592	0.68913	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.734405	0.95659	35	0.96694416886882339	0.30748	0.04741	0.10442	N	AEFBI	0.052234	0.09304	N	-0.444825480207957	0.23916	1.287689	-0.850459643591028	0.13276	0.6878352	0.626714653625772	0.21932	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.6	-3.25	0.04765	0.247000	0.17953	1.310000	0.25532	-0.895000	0.02364	0.008000	0.17931	0.122000	0.22912	0.072000	0.16771	0.0:0.0:0.2287:0.7713	11.633	0.50448	934	0.15400	.;ADD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1251.33	34	chr21	44260807	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=755;ExcessHet=0;FS=2.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=2.11;SOR=0.64	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	18	0	1	0
chr21	44293832	44293832	C	T	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon11:c.C1322T:p.T441M	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	1	1506	13	2	0	17	0.00561241	.	.	.	44325	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.448799035718	0.0012	0.000599042	0.0013	0.0003	0.0004	0.0001	0.0003	0.0016	0.0059	0.0024	0.0012031	186	154602	rs72650677	0.0017	0.0016	0.0016	0.0017	0.0033	0.0016	0.0016	0.0023	0.0022	0.0003	0.0007	0.0034	0	0.0002	0.0033	0.0017	0.0022	0.0026	0.0010	0.0010	0.0010	0.0011	0.0021	0.0009	0.0008	0.0013	0.0013	0.0004	0	0.0003	0.0029	0.0002	0	0	0.0016	0.0024	0.0021	0.078	0.33923	T	0.085	0.41074	T	0.974	0.57829	D	0.244	0.38795	B	0.057582	0.02099	N	2.129690	1	0.08975	N	1.24	0.30952	L	-2.29	0.87591	D	-1.79	0.42191	N	0.731	0.73195	-0.4053	0.71860	T	0.573	0.84554	D	10	0.116511256	0.21980	T	0.448799	0.94303	D	0.568	0.82403	.	.	0.972967316669	0.97267	0.31284631225330395	0.31197	0.252325852844	0.27803	0.81677043438	0.84532	D	0.434379	0.78148	T	-0.234179	0.16101	T	-0.113774	0.62309	T	0.0125261264536654	0.00207	T	0.551245	0.19007	T	0.038074777	0.05002	0.050381333	0.07897	0.044162896	0.07010	0.055548817	0.09764	-6.959	0.53734	T	.	.	0.095	0.14706	B	.	.	1.585793	0.20285	14.68	0.85568066308072865	0.15974	0.03957	0.09362	N	AEFDBI	0.092281	0.18685	N	-0.452088636365121	0.23668	1.272677	-0.650087452300313	0.18214	0.9720385	0.999943444260049	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.88	0.633	0.16883	-0.620000	0.05661	0.402000	0.18011	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.399:0.4058:0.1952:0.0	5.437	0.15786	929	0.16858	Zinc finger, PHD-type, conserved site|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004087	0.002959	0.000000	0.008621	0.009146	0.000000	0.02632	636.33	34	chr21	44293832	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.825;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	18	0	1	0
chr21	44331873	44331873	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon5:c.G515A:p.R172Q,CFAP410:NM_001271441:exon5:c.G515A:p.R172Q,CFAP410:NM_004928:exon5:c.G515A:p.R172Q,CFAP410:NM_001271442:exon6:c.G392A:p.R131Q	.	386	1135	1	0	0	1	0.000440335	.	.	.	951264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00346847198232	.	.	3.604e-05	0	0	0.0001	0	4.882e-05	0	0	2.59e-05	4	154602	rs755005560	3.151e-05	3.215e-05	2.863e-05	3.442e-05	0.0002	2.415e-05	2.16e-05	0.0001	7.232e-05	2.99e-05	0	0	0.0002	1.9e-05	0	3.058e-05	1.658e-05	1.161e-05	3.284e-05	3.283e-05	3.852e-05	2.689e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.928	0.05601	T	0.961	0.02542	T	0.0	0.02946	B	0.0	0.01387	B	0.791459	0.06714	N	1.109350	1	0.08975	N	.	.	.	1.78	0.35031	T	1.06	0.02195	N	0.072	0.05037	-0.9664	0.37934	T	0.023	0.09923	T	10	0.036850452	0.02005	T	0.003468	0.07847	T	0.017	0.02790	0.29	0.25081	0.0846915920261	0.08053	0.12526365678307588	0.12452	0.0749600561829	0.08408	.	.	.	0.003	0.02299	T	-0.551297	0.00287	T	-0.803975	0.01805	T	0.0351865022053025	0.02839	T	0.557244	0.20701	T	0.013883715	0.00073	0.027436696	0.00896	0.013883715	0.00073	0.027436696	0.00896	-3.244	0.13302	T	0.07436215464756367	0.03217	0.059	0.00793	B	.;.;.	.;.;.	-0.747886	0.01214	0.060	0.63043342186507467	0.07119	0.00678	0.02913	N	AEFDBHCI	0.028943	0.02643	N	-1.96994506153964	0.00245	0.01051115	-1.98283953069829	0.00333	0.01469438	0.999997353812871	0.74766	0.660377	0.49826	0	0.606735	0.50208	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.72	-7.11	0.01389	-2.344000	0.01178	-5.847000	0.01576	-1.582000	0.00918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1198:0.5291:0.0:0.3511	8.581	0.32790	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	692.33	36	chr21	44331873	.	C	T	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=704;ExcessHet=0;FS=2.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.215;SOR=0.444	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	18	0	1	0
chr21	44391585	44391585	G	C	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon11:c.G1754C:p.R585P,TRPM2:NM_001320351:exon11:c.G1754C:p.R585P,TRPM2:NM_003307:exon11:c.G1754C:p.R585P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0447060893919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.39820	T	0.213	0.27503	T	0.001	0.12996	B	0.002	0.08700	B	0.218176	0.03435	N	1.645010	1	0.08975	N	1.175	0.29870	L	-0.11	0.64445	T	-2.91	0.62747	D	0.258	0.45803	-0.9815	0.34655	T	0.209	0.56893	T	10	0.13663411	0.25996	T	0.044706	0.61621	D	0.309	0.63055	0.519	0.62066	0.28058544554	0.27657	0.5787414805839569	0.57803	0.203312179577	0.22746	0.315544784069	0.12746	T	0.355078	0.72213	T	0.00127013	0.51829	T	-0.235952	0.51194	T	0.101244606077671	0.12493	T	0.680232	0.28883	T	0.6469023	0.75198	0.3636808	0.61750	0.6469023	0.75200	0.3636808	0.61750	-3.131	0.11656	T	.	.	0.146	0.32299	B	.;.;.;.	.;.;.;.	1.228023	0.16223	12.40	0.92330884350717857	0.21727	0.25762	0.22795	N	AEFDBHCI	0.247317	0.36792	N	-0.836685697514927	0.12380	0.6031045	-0.875989399944844	0.12664	0.6527558	0.98011927572104	0.30100	0.615465	0.37627	0	0.633656	0.55848	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.05	2.25	0.27340	0.002000	0.12962	0.616000	0.20081	-0.177000	0.10537	0.003000	0.16062	0.001000	0.17328	0.002000	0.04165	0.3054:0.0:0.6946:0.0	8.873	0.34488	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	381.33	27	chr21	44391585	.	G	C	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=637;ExcessHet=0;FS=10.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.543;SOR=2.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	18	0	1	0
chr21	44406003	44406003	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon18:c.C2756T:p.T919M,TRPM2:NM_001320351:exon18:c.C2756T:p.T919M,TRPM2:NM_003307:exon18:c.C2756T:p.T919M	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.252531254658	.	.	5.017e-05	0	0	0	0.0002	4.596e-05	0	0.0001	3.88e-05	6	154602	rs141832926	2.884e-05	3.078e-05	2.871e-05	2.898e-05	8.115e-05	2.16e-05	1.915e-05	3.765e-05	2.662e-05	0	2.237e-05	0	5.039e-05	0	0	2.609e-05	4.973e-05	8.115e-05	3.94e-05	4.593e-05	3.855e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0.0002	0.069	0.35537	T	0.059	0.46406	T	0.999	0.77913	D	0.953	0.69275	D	0.002017	0.37457	N	0.220091	0.997857	0.45440	D	2.91	0.84121	M	-0.29	0.67712	T	-2.37	0.52289	N	0.633	0.67304	-0.2874	0.75337	T	0.420	0.76563	T	10	0.67717254	0.71061	D	0.252531	0.89176	D	0.437	0.74164	0.526	0.63115	0.593486797142	0.59025	0.6710943342576543	0.67047	0.606375499986	0.55488	0.752087652683	0.74754	T	0.720838	0.92109	D	-0.08519	0.38866	T	-0.157492	0.58576	T	0.559346795082092	0.34831	D	0.817618	0.49766	T	0.23553692	0.46390	0.3244897	0.58372	0.23553692	0.46390	0.3244897	0.58372	-9.544	0.71132	D	.	.	0.116	0.23605	B	.;.;.;.	.;.;.;.	4.081807	0.60724	24.3	0.99854159990350855	0.93279	0.88661	0.48694	D	AEFDBI	0.369596	0.45627	N	0.3255150194027	0.57460	3.913558	0.20078199713918	0.49890	3.187032	0.30151192149142	0.19194	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.16	2.3	0.27735	1.494000	0.35225	0.946000	0.22888	0.564000	0.28548	0.755000	0.29187	0.404000	0.24726	0.732000	0.35165	0.0:0.826:0.0:0.174	9.813	0.40005	846	0.36215	Ion transport domain;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	43	chr21	44406003	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.137;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1414	18	0	1	0
chr21	44435217	44435217	G	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320352:exon3:c.G104A:p.R35Q,TRPM2:NM_001320351:exon27:c.G3959A:p.R1320Q,TRPM2:NM_003307:exon28:c.G4061A:p.R1354Q,TRPM2:NM_001320350:exon29:c.G4211A:p.R1404Q	.	.	.	.	.	.	.	.	0.9999	0.97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	.	.	.	5.885e-05	0	0	0	0	6.141e-05	0	0.0002	5.82e-05	9	154602	rs565804083	4.451e-05	4.446e-05	4.087e-05	4.818e-05	0.0002	3.578e-05	3.26e-05	8.89e-05	7.057e-05	0.0001	8.951e-05	0	0	0	0.0002	3.42e-05	8.292e-05	0.0002	7.23e-05	7.223e-05	8.993e-05	5.384e-05	0.0002	3.973e-05	3.128e-05	3.252e-05	1.916e-05	9.663e-05	0	0.0001	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.011	0.67890	D	0.993	0.65571	D	0.557	0.51815	P	0.000001	0.62929	D	0.000000	0.997616	0.48800	D	3.58	0.93551	H	-1.21	0.78645	T	-1.43	0.35194	N	0.515	0.63544	0.307	0.87675	D	0.606	0.86026	D	10	0.70719075	0.72813	D	0.211687	0.87317	D	0.616	0.85039	.	.	0.679741279585	0.67702	0.8844391249080473	0.88411	0.520990641743	0.49885	0.407090604305	0.26054	T	0.451839	0.79240	T	-0.0316872	0.47173	T	0.00885585	0.70908	D	0.838408589363098	0.49197	D	0.818018	0.47523	T	0.4861223	0.66270	0.2443343	0.49898	0.4861223	0.66271	0.2443343	0.49897	-8.979	0.67562	D	.	.	0.227	0.48988	B	.;.;.;.;.	.;.;.;.;.	5.291836	0.88845	29.8	0.99911458683226539	0.98095	0.77913	0.38366	D	AEFDBI	0.349964	0.44358	N	0.478999502393882	0.65865	4.876526	0.396911122108135	0.61372	4.336626	0.991598455389351	0.32542	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.86	4.86	0.62624	2.076000	0.41172	6.197000	0.54843	-0.187000	0.09635	0.998000	0.41325	1.000000	0.68203	0.011000	0.09372	0.0907:0.0:0.9093:0.0	10.78	0.45572	840	0.37365	NUDIX hydrolase domain;NUDIX hydrolase domain;NUDIX hydrolase domain;.;NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	1518.83	38	chr21	44435217	.	G	A	1518.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=796;ExcessHet=0.119;FS=5.415;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.15;SOR=1.179	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	17	0	2	0
chr21	44539415	44539415	T	C	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V	.	376	1144	2	0	0	2	0.000873362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.0061901	0.0027	0.0049	0.0025	0.0188	0.0003	0.0009	0.0011	0.0013	0.0024062	372	154602	rs147442908	0.0015	0.0015	0.0015	0.0014	0.0239	0.0014	0.0014	0.0226	0.0221	0.0056	0.0027	0.0040	0.0239	0.0002	0.0005	0.0005	0.0021	0.0008	0.0030	0.0030	0.0030	0.0029	0.0181	0.0028	0.0027	0.0151	0.0140	0.0058	0	0.0031	0.0052	0.0181	9.508e-05	0.0068	0.0005	0.0048	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.775	0.00026	N	5.15	0.01198	T	2.07	0.00375	N	0.05	0.02179	-1.0060	0.28156	T	0.006	0.02055	T	9	0.004144132	0.00082	T	.	.	.	0.084	0.24469	.	.	0.117506650769	0.11410	0.029886105557788454	0.02937	0.152316728517	0.17189	0.225969851017	0.01683	T	0.001636	0.01065	T	-0.715362	0.00030	T	-0.786065	0.02275	T	0.0058953990354577	0.00065	T	0.0382962	0.00264	T	0.046574116	0.07817	0.07941723	0.17877	0.046574116	0.07817	0.07941723	0.17877	2.894	0.00023	T	.	.	0.046	0.00054	B	.	.	-1.031802	0.00727	0.022	0.28855652487680794	0.01502	0.00040	0.00335	N	AEFBI	0.017418	0.00455	N	-1.07245889153555	0.07154	0.3314993	-1.06991178548566	0.08298	0.4073496	0.00117747460650372	0.08304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.97	2.13	0.26445	-0.586000	0.05880	-6.102000	0.01496	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7889:0.0:0.2111	8.161	0.30359	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	8372.83	102	chr21	44539415	.	T	C	8372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.8;DP=1845;ExcessHet=0.119;FS=12.193;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-4.469;QD=22.81;ReadPosRankSum=0.835;SOR=0.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,106:192:99:0|1:44539415_T_C:4132,0,3186:44539415	17	0	2	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002114	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07895	6435.79	37	chr21	44540050	.	A	G	6435.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.924;DP=1103;ExcessHet=0.3672;FS=1.739;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.86;MQRankSum=-0.951;QD=13.72;ReadPosRankSum=-0.222;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,83:160:99:1|0:44540035_G_A:2265,0,2890:44540035	16	0	3	0
chr21	44558654	44558654	G	T	exonic	KRTAP10-3	.	nonsynonymous SNV	KRTAP10-3:NM_198696:exon1:c.C62A:p.A21D	.	393	1115	14	0	0	14	0.00623886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.00559105	0.0027	0.0156	0.0020	0.0017	0	0.0014	0	0.0026	0.0025161	389	154602	rs145185182	0.0014	0.0014	0.0014	0.0014	0.0134	0.0013	0.0013	0.0124	0.0120	0.0134	0.0016	7.659e-05	0.0008	1.874e-05	0.0074	0.0010	0.0022	0.0025	0.0044	0.0044	0.0044	0.0044	0.0132	0.0041	0.0040	0.0123	0.0119	0.0132	0	0.0012	0	0.0014	0	0.0034	0.0012	0.0047	0.0012	1.0	0.00964	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-3.455	0.00004	N	4.18	0.02743	T	6.43	0.00006	N	0.077	0.05162	-0.9403	0.42568	T	0.001	0.00467	T	9	0.0027834773	0.00044	T	.	.	.	0.050	0.13987	.	.	0.0762999501168	0.06990	0.017135325724763346	0.01668	0.0269283058612	0.02750	0.242103278637	0.02982	T	0.001183	0.00684	T	-0.720735	0.00027	T	-0.796386	0.01995	T	0.00344508985871034	0.00036	T	0.181182	0.01822	T	0.054069463	0.10323	0.08890488	0.20758	0.054069463	0.10323	0.08890488	0.20757	1.182	0.00111	T	.	.	0.042	0.00026	B	.	.	-0.230633	0.02939	0.431	0.87096415242261449	0.16986	0.00279	0.01508	N	AEFBI	0.024137	0.01448	N	-1.26234060596341	0.04139	0.1862424	-1.01412331628193	0.09474	0.4715567	5.47406558694427E-4	0.07273	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.43	2.26	0.27418	0.033000	0.13642	0.340000	0.17371	-0.694000	0.04098	0.030000	0.20431	0.000000	0.08366	0.155000	0.20479	0.0:0.0:0.4331:0.5669	7.781	0.28226	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006878	0.000000	0.009511	0.008197	0.050000	0.000000	0.009146	0.007576	0.02632	2139.33	37	chr21	44558654	.	G	T	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=1878;ExcessHet=0;FS=2.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-1.592;QD=12.09;ReadPosRankSum=-0.417;SOR=0.892	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	18	0	1	0
chr21	44591533	44591533	C	T	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.G952A:p.V318M	.	385	1133	4	0	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00127366169408	0.0011	0.00139776	0.0012	0.0003	0.0030	0.0001	0	0.0015	0.0011	0.0005	0.0011578	179	154602	rs201469997	0.0013	0.0013	0.0013	0.0013	0.0038	0.0012	0.0012	0.0034	0.0032	0.0003	0.0038	0.0010	0.0001	5.617e-05	0.0037	0.0014	0.0015	0.0005	0.0015	0.0016	0.0014	0.0016	0.0056	0.0014	0.0013	0.0047	0.0043	0.0003	0	0.0056	0.0006	0.0002	9.418e-05	0.0034	0.0018	0.0028	0.0002	0.062	0.36912	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.997035	0.22815	N	.	.	.	4.85	0.01470	T	-2.05	0.47008	N	0.199	0.21969	-1.0167	0.24787	T	0.018	0.07282	T	9	0.008776188	0.00199	T	0.001274	0.01733	T	0.023	0.04649	.	.	0.165133752707	0.16062	0.050189127256008735	0.04961	1.37515071505	0.84646	.	.	.	.	.	.	-0.641187	0.00082	T	-0.688106	0.06499	T	0.0220971756142035	0.00919	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24088	B	.	.	1.534801	0.19691	14.39	0.99376316066452286	0.61671	0.04868	0.10607	N	AEFBCI	0.039670	0.05794	N	-0.306909036483904	0.28885	1.597018	-0.561187763317025	0.20508	1.105288	0.0206657111120347	0.13279	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	2.8	1.84	0.24348	-0.117000	0.10681	-3.906000	0.02460	-0.686000	0.04175	0.062000	0.21832	0.000000	0.08366	0.000000	0.00833	0.0:0.5355:0.4645:0.0	8.673	0.33323	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.000000	0.004076	0.008197	0.000000	0.017241	0.006098	0.000000	0.02632	3025.33	39	chr21	44591533	.	C	T	3025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=1150;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0.243;QD=12.61;ReadPosRankSum=-0.335;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr21	44591871	44591871	G	A	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.C614T:p.T205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00139592827094	.	.	3.305e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs781822468	7.564e-06	7.526e-06	1.369e-06	1.382e-05	0.0001	4.06e-06	2.97e-06	7.139e-05	5.493e-05	0	0	0	0	0	0	0	0	0.0001	1.467e-05	2.135e-05	0	3.017e-05	6.526e-05	2.44e-06	9.1e-07	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.92	0.01404	T	-1.45	0.35597	N	0.137	0.13484	.	.	.	.	.	.	.	0.077114284	0.12130	T	0.001396	0.02037	T	.	.	.	.	0.101711395817	0.09552	0.03189364696184953	0.03138	.	.	.	.	.	.	.	.	-0.384889	0.02901	T	-0.530964	0.19191	T	0.0182503307014416	0.00545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14108	B	.	.	1.481423	0.19071	14.07	0.9177451103914025	0.21077	0.03084	0.08003	N	AEFBCI	0.029480	0.02791	N	-0.488022542452154	0.22473	1.200209	-0.7908157556664	0.14721	0.770624	0.0147114135511156	0.12629	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	2.36	-0.729	0.10596	0.056000	0.14136	-2.389000	0.03815	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.0:0.2798:0.7202	8.313	0.31242	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2551.71	310	chr21	44591871	.	G	A	2551.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.85;DP=2851;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.81;MQRankSum=1.21;QD=12.04;ReadPosRankSum=0.185;SOR=0.953	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	1	1
chr21	44591902	44591902	G	C	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.C583G:p.P195A	.	401	1113	8	0	0	8	0.00358102	.	.	.	2292313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.000959542332209	.	.	0.0003	0.0001	8.639e-05	0.0001	0	0.0004	0	0.0003	0.0002264	35	154602	rs201136864	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	3.004e-05	0.0001	0.0057	2.531e-05	0	0.0007	0.0001	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	9.111e-05	2.579e-05	0	6.679e-05	0.0043	0	0	0	0.0002	0	0.0006	0.751	0.03576	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	5.73	0.00718	T	-1.6	0.38540	N	0.176	0.18920	-0.9398	0.42648	T	0.002	0.00526	T	9	0.010165811	0.00227	T	9.6E-4	0.00980	T	0.050	0.13987	.	.	0.0716867268079	0.06686	0.02174683203549137	0.02126	0.468134351491	0.46167	.	.	.	.	.	.	-0.511376	0.00493	T	-0.661814	0.08144	T	0.0220698583561943	0.00917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00793	B	.	.	0.424632	0.07954	4.662	0.85517344444927113	0.15942	0.03566	0.08774	N	AEFBCI	0.025721	0.01810	N	-0.981531053343601	0.08998	0.424096	-1.08878594157035	0.07920	0.3872273	0.01389479205682	0.12524	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	1.34	0.029	0.13478	-1.440000	0.02518	-0.070000	0.12310	-0.660000	0.04357	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.0:0.0:0.7027:0.2973	6.034	0.18924	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02778	2724.71	310	chr21	44591902	.	G	C	2724.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.486;DP=2656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.75;MQRankSum=1.28;QD=10.94;ReadPosRankSum=0.773;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	17	0	1	1
chr21	44600667	44600667	G	A	exonic	KRTAP10-7	.	nonsynonymous SNV	KRTAP10-7:NM_198689:exon1:c.G46A:p.G16S	.	404	1109	9	0	0	9	0.00404131	.	.	.	364155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0027	0.0167732	0.0090	0.0038	0.0013	0.0074	0.0005	0.0030	0.0061	0.0459	0.0075743	1171	154602	rs200384147	0.0044	0.0046	0.0034	0.0054	0.0399	0.0043	0.0043	0.0388	0.0383	0.0033	0.0012	0.0070	0.0076	0.0007	0.0029	0.0018	0.0057	0.0399	0.0041	0.0043	0.0035	0.0048	0.0447	0.0039	0.0038	0.0398	0.0379	0.0038	0	0.0016	0.0072	0.0081	0.0006	0	0.0021	0.0052	0.0447	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.645	0.42016	L	.	.	.	.	.	.	0.186	0.20262	-0.9565	0.39825	T	0.003	0.01026	T	9	0.002353847	0.00035	T	.	.	.	.	.	.	.	0.243972157842	0.24002	0.06352550655855156	0.06291	.	.	0.244192421436	0.03180	T	0.068069	0.33362	T	-0.648584	0.00074	T	-0.672288	0.07462	T	0.000605724899188348	0.00005	T	0.137786	0.01098	T	0.027249593	0.01890	0.058504764	0.10822	0.027249593	0.01890	0.058504764	0.10821	-6.188	0.47826	T	.	.	0.069	0.03231	B	.	.	0.319883	0.06943	3.491	0.79297427406980414	0.12678	0.01694	0.05394	N	AEFBI	0.042772	0.06677	N	-1.36901873123986	0.02933	0.1302449	-1.47816391500007	0.02524	0.116227	0.0626018408521064	0.15268	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.542086	0.14980	0	.	.	3.94	-3.28	0.04721	-0.361000	0.07664	-0.503000	0.08791	-1.790000	0.00639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4811:0.0:0.3663:0.1526	4.579	0.11644	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010128	0.000000	0.004076	0.012500	0.050000	0.000000	0.003106	0.042308	0.02632	3890.33	36	chr21	44600667	.	G	A	3890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=1246;ExcessHet=0;FS=6.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.73;MQRankSum=-0.187;QD=13.05;ReadPosRankSum=-0.108;SOR=0.453	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1276	18	0	1	0
chr21	44600767	44600767	-	CA	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCA:p.A50Rfs*5	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0013	0.0003	0.0003	0.0025	0.0003	0.0002	0.0021	0.0019	0.0017	6.746e-05	0.0005	0.0025	0.0002	0	9.306e-05	0.0005	0.0012	0.0014	0.0054	0.0012	0.0016	0.0032	0.0013	0.0012	0.0027	0.0026	0.0032	0.0011	0.0009	0.0006	0.0023	0.0014	0	0.0005	0.0020	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	733.29	36	chr21	44600767	.	C	CCA	733.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=966;ExcessHet=0;FS=18.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.13;MQRankSum=2.63;QD=34.92;ReadPosRankSum=2.57;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,105,1276:.	18	0	1	0
chr21	44600768	44600768	-	CTGCTGC	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.147_148insCTGCTGC:p.A50Lfs*26	.	408	1098	8	1	7	17	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0013	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0018	0.0014	2.305e-05	0.0004	0.0024	0.0002	0	7.187e-05	0.0004	0.0010	0.0013	0.0060	0.0011	0.0014	0.0032	0.0011	0.0010	0.0026	0.0024	0.0032	0.0012	0.0008	0.0003	0.0023	0.0012	0	0.0004	0.0023	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	734.1	36	chr21	44600768	.	G	GCTGCTGC	734.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.83;DP=954;ExcessHet=0;FS=18.451;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=48.13;MQRankSum=2.63;QD=34.96;ReadPosRankSum=1.42;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,105,1276:.	16	0	1	2
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:198,155:353:99:5646,0,7709	7	2	8	2
chr21	44637717	44637717	T	0	exonic	KRTAP10-10	.	.	.	.	433	876	177	15	21	228	0.105666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6951.77	438	chr21	44637717	.	T	*	6951.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.267;DP=6216;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.613;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:331,0:331:99:.:.:0,120,1800:.	12	2	3	2
chr21	44637718	44637718	G	0	exonic	KRTAP10-10	.	.	.	.	432	881	177	15	17	224	0.10513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6950.77	438	chr21	44637718	.	G	*	6950.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.891;DP=6220;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.794;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:331,0:331:99:.:.:0,120,1800:.	12	2	3	2
chr21	44637719	44637719	T	0	exonic	KRTAP10-10	.	.	.	.	1	177	5	0	43	48	0.0139276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	6948.77	438	chr21	44637719	.	T	*	6948.77	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.59;DP=6228;ExcessHet=0.0419;FS=0.547;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.235;MQ=59.94;MQRankSum=-0.6;QD=3.99;ReadPosRankSum=-1.729;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:331,0:331:99:.:.:0,120,1800:.	12	2	3	2
chr21	44646825	44646825	G	T	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G367T:p.A123S	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000502663124108	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	9.7e-05	15	154602	rs879996732	2.391e-05	3.852e-05	1.537e-05	3.257e-05	0.0003	1.721e-05	1.519e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.751e-06	3.406e-05	0.0003	6.814e-06	0.0001	0	1.397e-05	1.499e-05	0	0	.	.	0	0	0	0	0	0	0	1.499e-05	0	0	1.0	0.00964	T	0.962	0.02535	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999999	0.08975	N	-1.175	0.00869	N	6.12	0.00585	T	1.03	0.01350	N	0.112	0.09914	-0.9618	0.38839	T	0.001	0.00188	T	9	0.012880653	0.00275	T	5.03E-4	0.00153	T	0.033	0.08068	0.36	0.36385	0.0297737177859	0.01360	0.03188396592462182	0.03137	0.0132284816824	0.01271	0.199055016041	0.00430	T	6.12E-4	0.00258	T	-0.633249	0.00091	T	-0.804664	0.01788	T	0.0275626740741877	0.01625	T	0.0160584	0.00090	T	0.033367485	0.03541	0.043169957	0.05311	0.033367485	0.03540	0.043169957	0.05310	1.933	0.00055	T	.	.	0.064	0.01645	B	.	.	-1.748370	0.00176	0.003	0.44829602764638682	0.03475	0.00707	0.02997	N	AEFGBCI	0.025186	0.01684	N	-2.41637471270447	0.00025	0.001074072	-2.41775446648032	0.00036	0.001574869	0.999843289721691	0.43971	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	1.91	-3.83	0.03988	-5.461000	0.00144	-2.568000	0.03599	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.34:0.1393:0.2769:0.2439	0.351	0.00325	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2323.33	124	chr21	44646825	.	G	T	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=2518;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-9.679;QD=8.36;ReadPosRankSum=-3.89;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	18	0	1	0
chr21	44646834	44646834	T	C	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.T376C:p.C126R	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00182690766187	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	.	.	.	rs782233211	1.124e-05	3.713e-05	8.377e-06	1.415e-05	0.0002	6.66e-06	5.39e-06	8.554e-05	6.675e-05	0	0	0	0	0	0.0002	1.833e-06	1.702e-05	0.0001	6.643e-06	9.24e-05	0	1.36e-05	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.766	0.56676	P	.	.	.	.	0.999885	0.19853	N	4.765	0.99591	H	3.49	0.05071	T	-6.33	0.90895	D	0.409	0.44952	-1.0939	0.04914	T	0.050	0.21182	T	9	0.5214386	0.62665	D	0.001827	0.03167	T	0.059	0.16972	0.747	0.87821	0.300784259202	0.29686	0.263900502843815	0.26303	0.0142121615637	0.01355	0.274518430233	0.06739	T	0.151656	0.49169	T	-0.34724	0.04903	T	-0.430586	0.29869	T	0.383154422044754	0.28303	T	0.451055	0.12757	T	0.6733997	0.76615	0.5800292	0.75659	0.6733997	0.76616	0.5800292	0.75660	-4.58	0.31920	T	.	.	0.198	0.42111	B	.	.	2.093327	0.26629	17.18	0.80691173895187474	0.13323	0.05257	0.11094	N	AEFGBCI	0.040990	0.06172	N	-0.100914610669236	0.37352	2.171943	-0.355666651671566	0.26334	1.453885	0.997465139084784	0.35646	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.99	2.99	0.33673	1.905000	0.39508	0.157000	0.15360	0.661000	0.55757	0.789000	0.29582	0.003000	0.18671	0.203000	0.21983	0.0:0.0:0.0:1.0	9.395	0.37557	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1915.33	124	chr21	44646834	.	T	C	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=2499;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-10.73;QD=7.07;ReadPosRankSum=-4.738;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	18	0	1	0
chr21	44646841	44646841	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G383A:p.R128Q	.	419	1098	5	0	0	5	0.00227169	.	.	.	2682696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00508909382001	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0.0011	0.0008	0.0001294	20	154602	rs781935072	3.516e-05	6.395e-05	3.073e-05	3.964e-05	0.0005	2.704e-05	2.441e-05	0.0003	0.0003	0	0.0005	0	2.607e-05	1.911e-05	0.0005	1.375e-05	5.11e-05	9.995e-05	3.407e-05	0.0002	5.318e-05	1.398e-05	0.0001	1.296e-05	8.24e-06	2.354e-05	9.42e-06	0	0	0.0001	0	0	0	0	2.998e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-2.51	0.00055	N	5.13	0.01211	T	2.61	0.00209	N	0.086	0.06322	-0.9089	0.46989	T	0.001	0.00438	T	9	0.009119779	0.00206	T	0.005089	0.12908	T	0.034	0.08419	0.246	0.18139	0.0551355673512	0.04727	0.03410906213113424	0.03358	0.0135147080433	0.01299	0.201820984483	0.00512	T	6.46E-4	0.00278	T	-0.563598	0.00242	T	-0.745624	0.03659	T	0.0167317080956348	0.00430	T	0.0389961	0.00270	T	0.024778591	0.01343	0.038252596	0.03653	0.024778591	0.01343	0.038252596	0.03653	1.44	0.00087	T	.	.	0.051	0.00158	B	.	.	0.074718	0.04821	1.425	0.68970906118094755	0.08824	0.00439	0.02144	N	AEFGBCI	0.014598	0.00239	N	-1.59977075688941	0.01265	0.05507481	-1.50453754492103	0.02309	0.1059897	0.980535540273965	0.30147	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.29	-0.83	0.10247	-0.169000	0.09900	-0.091000	0.12058	-0.049000	0.17311	0.000000	0.06391	0.000000	0.08366	0.362000	0.25931	0.5736:0.0:0.2425:0.1839	3.119	0.05999	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1597.33	124	chr21	44646841	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.76;DP=2510;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.97;MQRankSum=-11.62;QD=5.87;ReadPosRankSum=-4.971;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	18	0	1	0
chr21	44646846	44646846	T	C	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.T388C:p.S130P	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00358858907532	.	.	0.0001	0	8.64e-05	0	0	2.998e-05	0	0.0007	.	.	.	rs879995411	4.214e-06	3.231e-05	2.791e-06	5.657e-06	7.479e-05	1.52e-06	1e-06	3.182e-05	2.16e-05	0	0	0	0	0	0	0	0	7.479e-05	6.665e-06	0.0001	0	1.364e-05	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.068	0.35726	T	0.088	0.40586	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.93	0.84523	M	4.51	0.02015	T	-2.45	0.53577	N	0.118	0.10769	-1.0821	0.06946	T	0.027	0.11485	T	9	0.107103676	0.19879	T	0.003589	0.08216	T	0.140	0.37593	0.29	0.25081	0.192905019026	0.18896	0.04720663792504883	0.04663	0.0136768066126	0.01309	0.250402867794	0.03810	T	0.036039	0.23951	T	-0.229487	0.16718	T	-0.466789	0.25863	T	0.300115079682623	0.25008	T	0.160884	0.01452	T	0.2202412	0.44574	0.23028237	0.48125	0.2202412	0.44574	0.23028237	0.48124	-3.246	0.13051	T	.	.	0.103	0.18289	B	.	.	0.637527	0.10061	6.809	0.97079518259435593	0.32272	0.16276	0.19313	N	AEFGBCI	0.106254	0.21206	N	0.0219691209421317	0.42854	2.590016	-0.201115498900136	0.31496	1.783055	0.999986317528609	0.51787	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	-2.689000	0.00903	-0.633000	0.08115	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.293000	0.24333	0.0:0.0:0.0:1.0	9.985	0.41006	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1300.33	124	chr21	44646846	.	T	C	1300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.02;DP=2505;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.07;MQRankSum=-12.03;QD=4.89;ReadPosRankSum=-5.594;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	18	0	1	0
chr21	44646870	44646870	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G412A:p.A138T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0048958587795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386166561	0	2.063e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.667	0.06365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999997	0.08975	N	-1.935	0.00224	N	4.98	0.01344	T	1.72	0.00564	N	0.051	0.02272	-0.9290	0.44284	T	0.001	0.00378	T	9	0.017842501	0.00383	T	0.004896	0.12286	T	0.007	0.00512	0.327	0.31034	0.0138822411134	0.00435	0.032076801720211524	0.03155	0.0132878716426	0.01276	0.184470742941	0.00142	T	4.68E-4	0.00164	T	-0.417312	0.01780	T	-0.837216	0.01141	T	0.057442231998774	0.06760	T	0.10069	0.00748	T	0.023943802	0.01178	0.04520114	0.06028	0.023943802	0.01178	0.04520114	0.06027	-0.692	0.00715	T	.	.	0.065	0.02038	B	.	.	-1.083806	0.00660	0.018	0.655002469083519	0.07790	0.00747	0.03111	N	AEFDGBCI	0.019986	0.00746	N	-1.94346161064364	0.00279	0.01196527	-1.94691997911177	0.00394	0.01742971	0.999977095623642	0.50053	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.93	-5.85	0.02121	-2.105000	0.01427	-6.077000	0.01504	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1778:0.3238:0.3474:0.1511	1.891	0.03051	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	306	chr21	44646870	.	G	A	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=4040;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.21;MQRankSum=-13.86;QD=0.16;ReadPosRankSum=-4.932;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:233,0:233:99:.:.:0,120,1800:.	18	0	1	0
chr21	44654562	44654562	G	A	exonic	KRTAP12-4	.	nonsynonymous SNV	KRTAP12-4:NM_198698:exon1:c.C53T:p.P18L	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0052058309485	.	0.000399361	0.0007	0.0004	0.0002	0	0	8.035e-05	0	0.0046	0.0004269	66	154602	rs587731144	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0001	3.883e-05	0.0002	5.66e-05	0.0007	4.781e-05	0.0002	0.0046	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0.0004	0	0.0002	0	0	0	0	5.881e-05	0	0.0041	0.133	0.26409	T	0.073	0.43159	T	0.051	0.22415	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.55	0.01948	T	-2.21	0.49684	N	0.071	0.04426	-0.9211	0.45403	T	0.004	0.01435	T	9	0.006500751	0.00147	T	0.005206	0.13248	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.03536937343418174	0.03483	0.0869547142286	0.09809	0.233238324523	0.02216	T	0.031166	0.21915	T	-0.690232	0.00042	T	-0.764391	0.02957	T	0.0350803277490215	0.02822	T	0.392661	0.09777	T	0.029830875	0.02543	0.041076723	0.04587	0.029830875	0.02542	0.041076723	0.04586	-4.519	0.31136	T	.	.	0.079	0.07130	B	.	.	0.021763	0.04434	1.164	0.97757209041713977	0.35782	0.00089	0.00592	N	AEFDBI	0.021406	0.00950	N	-1.21722287673146	0.04750	0.2150335	-1.30418726676043	0.04376	0.2062551	0.127228588429531	0.17015	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.04	-2.59	0.05847	-0.215000	0.09284	-0.972000	0.06742	-0.638000	0.04459	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	0.4774:0.1804:0.3422:0.0	4.210	0.09962	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1341.33	37	chr21	44654562	.	G	A	1341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.345;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1257	18	0	1	0
chr21	44666834	44666834	C	T	exonic	KRTAP12-2	.	nonsynonymous SNV	KRTAP12-2:NM_181684:exon1:c.G53A:p.S18N	.	430	1065	27	0	0	27	0.0125174	.	.	.	2821845	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00279965897282	0.0009	0.000998403	0.0015	0	0.0004	0	0	0.0012	0.0023	0.0060	0.0001153	3	26028	rs143686476	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0011	0.0082	0.0074	0.0003	0.0006	7.695e-05	2.525e-05	0	0.0102	0.0009	0.0018	0.0061	0.0008	0.0009	0.0008	0.0008	0.0044	0.0007	0.0007	0.0029	0.0025	0.0001	0	0.0008	0	0	0	0	0.0013	0.0009	0.0044	0.007	0.59928	D	0.007	0.69154	D	0.802	0.45105	P	0.267	0.39770	B	.	.	.	.	1	0.08975	N	2.6	0.76081	M	4.06	0.03063	T	-2.32	0.51478	N	0.216	0.24135	-1.0601	0.11731	T	0.021	0.09056	T	9	0.0064796507	0.00147	T	0.003	0.05840	T	0.056	0.15993	.	.	0.3085936734	0.30458	0.03833993704929642	0.03779	0.17694831345	0.19912	0.28999209404	0.08921	T	0.084317	0.37250	T	-0.651385	0.00071	T	-0.705834	0.05512	T	0.0356965933962838	0.02927	T	0.387161	0.09535	T	0.15285218	0.34677	0.12656856	0.30480	0.15285218	0.34676	0.12656856	0.30479	-8.93	0.67245	D	.	.	0.224	0.45569	B	.	.	0.839474	0.12109	8.663	0.94844240990002304	0.25637	0.06805	0.12829	N	AEFDBHCI	0.033163	0.03882	N	-0.434545504500228	0.24268	1.309094	-0.683018874357377	0.17385	0.9241925	0.104310765254257	0.16471	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.64	-0.657	0.10858	-0.514000	0.06382	-2.835000	0.03313	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2521:0.216:0.5319:0.0	7.286	0.25516	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.000000	0.009511	0.002924	0.000000	0.000000	0.021341	0.011364	0.02632	3033.33	252	chr21	44666834	.	C	T	3033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=3801;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=-1.043;QD=13.98;ReadPosRankSum=-0.536;SOR=0.428	GT:AD:DP:GQ:PL	0/0:202,0:202:99:0,120,1800	18	0	1	0
chr21	44697370	44697370	C	G	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.C169G:p.R57G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00893489436208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.21	0.26714	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	0.544309	0.32080	D	-0.55	0.02420	N	3.0	0.09167	T	-0.61	0.18042	N	0.186	0.20262	-0.9792	0.35186	T	0.018	0.07329	T	9	0.052771866	0.05362	T	0.008935	0.23535	T	0.035	0.08770	0.286	0.24440	0.0297737177859	0.01360	0.04252236546821669	0.04197	0.345896987908	0.36490	0.274338722229	0.06715	T	0.002982	0.02381	T	-0.306592	0.08052	T	-0.678174	0.07096	T	0.0929849608390264	0.11567	T	0.107389	0.00803	T	0.07885811	0.17983	0.085629486	0.19785	0.07885811	0.17982	0.085629486	0.19785	-6.219	0.48077	T	.	.	0.079	0.07460	B	.	.	1.431900	0.18503	13.77	0.9386642923498103	0.23874	0.06852	0.12878	N	AEFBI	0.060034	0.11381	N	-1.16482675756331	0.05540	0.2528307	-1.16781536918256	0.06454	0.310715	0.99767740604388	0.35891	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	2.77	1.57	0.22490	-0.111000	0.10778	0.127000	0.14995	-0.168000	0.11412	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	0.0:0.2791:0.0:0.7209	5.636	0.16811	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2168.33	34	chr21	44697370	.	C	G	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=1117;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.04;MQRankSum=0.639;QD=12.05;ReadPosRankSum=-0.851;SOR=0.761	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1290	18	0	1	0
chr21	44697895	44697895	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G694A:p.G232R	.	397	1124	1	0	0	1	0.000444642	.	.	.	3269619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.0129800052903	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200760388	1.447e-05	1.575e-05	1.507e-05	1.387e-05	0.0002	9.3e-06	7.89e-06	2.422e-05	1.271e-05	9.14e-05	0	0.0002	5.085e-05	0	0.0002	7.23e-06	0	2.383e-05	1.315e-05	1.314e-05	0	2.693e-05	6.552e-05	2.19e-06	8.2e-07	.	.	0	0	6.552e-05	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.336	0.18232	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-0.46	0.02758	N	6.17	0.00578	T	0.23	0.04613	N	0.189	0.20660	-0.9341	0.43530	T	0.001	0.00408	T	9	0.025420725	0.00737	T	0.01298	0.32017	T	0.023	0.04649	0.265	0.21103	0.0920862733494	0.08535	0.07497492363479404	0.07433	0.320741903816	0.34277	0.225873976946	0.01676	T	1.65E-4	0.00025	T	-0.508924	0.00509	T	-0.743109	0.03761	T	0.0545329925446061	0.06279	T	0.0879912	0.00649	T	0.07165214	0.15878	0.080286875	0.18149	0.07165214	0.15878	0.080286875	0.18149	-3.798	0.20775	T	.	.	0.092	0.13456	B	.	.	1.133863	0.15208	11.67	0.8898438296722786	0.18415	0.08253	0.14206	N	AEFDBCI	0.051638	0.09141	N	-1.21371969037689	0.04800	0.217414	-1.14974041126702	0.06772	0.3271366	0.999758745447376	0.42595	0.608966	0.35542	0	0.563428	0.19063	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	3.58	1.72	0.23498	-3.031000	0.00701	-7.563000	0.01131	-2.955000	0.00150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2284:0.1898:0.5818:0.0	4.236	0.10079	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1741.33	38	chr21	44697895	.	G	A	1741.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.93;DP=1105;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.299;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1290:.	18	0	1	0
chr21	44787954	44787954	C	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91C:p.E31Q,UBE2G2:NM_182688:exon4:c.G7C:p.E3Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0314211249263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.981	0.59675	D	0.882	0.62632	P	0.000001	0.84330	D	0.092911	1	0.81001	D	3.11	0.87757	M	1.12	0.38718	T	-2.62	0.56301	D	0.769	0.76666	-0.4026	0.71945	T	0.285	0.65675	T	10	0.79398346	0.78905	D	0.031421	0.53505	D	0.298	0.61843	0.511	0.60846	0.769516625955	0.76740	0.8037512325420121	0.80329	1.76735228877	0.91241	0.784447729588	0.79600	T	0.212853	0.57400	T	0.0571406	0.59253	T	-0.155698	0.58736	T	0.984980940818787	0.76116	D	0.992401	0.97558	D	0.8669726	0.88624	0.73420763	0.84292	0.8669726	0.88625	0.73420763	0.84293	-9.478	0.70722	D	.	.	0.525	0.65696	A	.;.	.;.	4.516880	0.70779	25.6	0.99818088135550154	0.90150	0.96027	0.67203	D	AEFDBI	0.558437	0.56766	D	0.812082726397847	0.86858	9.021618	0.775752041384853	0.88062	9.443339	0.999999999792068	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.215000	0.65074	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.391	0.83373	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	221.33	40	chr21	44787954	.	C	G	221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.172;DP=871;ExcessHet=0;FS=157.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=2.27;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	18	0	1	0
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.02632	3644.33	34	chr21	45267554	.	G	A	3644.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=922;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.33;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1478	18	0	1	0
chr21	45456068	45456068	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon1:c.G538A:p.A180T,COL18A1:NM_130444:exon1:c.G538A:p.A180T	Knobloch syndrome, type 1, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	.	1159023	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.010	.	0.0087	0.00359425	0.0074	0.0017	0.0038	0.0005	0.0054	0.0108	0.0094	0.0036	0.007225	1117	154602	rs148957774	0.0093	0.0093	0.0095	0.0091	0.0108	0.0092	0.0091	0.0106	0.0105	0.0017	0.0044	0.0076	0.0003	0.0064	0.0087	0.0108	0.0085	0.0033	0.0073	0.0073	0.0078	0.0067	0.0120	0.0069	0.0068	0.0113	0.0110	0.0018	0.0077	0.0052	0.0055	0.0008	0.0066	0.0068	0.0120	0.0066	0.0048	0.624	0.05245	T	0.81	0.05000	T	0.0	0.07471	B	0.001	0.04355	B	0.587584	0.05572	N	1.367480	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.37	0.13226	N	0.042	0.01498	-1.0271	0.21396	T	0.017	0.06950	T	10	0.0037117004	0.00069	T	.	.	.	0.010	0.01040	.	.	0.152612264143	0.14878	0.06724831293122445	0.06662	0.065656974195	0.07326	0.298339575529	0.10155	T	0.015896	0.13243	T	-0.76639	0.00014	T	-0.863254	0.00809	T	0.00342376605981443	0.00036	T	0.382462	0.09295	T	0.030336697	0.02680	0.04378223	0.05526	0.032455485	0.03273	0.04378223	0.05525	-3.729	0.20208	T	.	.	0.066	0.02313	B	.;.	.;.	-0.553994	0.01702	0.124	0.34627132206956301	0.02128	0.00117	0.00738	N	AEFBI	0.092985	0.18818	N	-2.07699661079924	0.00144	0.006154674	-2.14999170462211	0.00145	0.006366307	0.999999999835374	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.45	-8.9	0.00673	-4.355000	0.00283	-2.235000	0.04018	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2442:0.1866:0.3841:0.1852	1.765	0.02819	680	0.59965	.;Domain of unknown function DUF959, collagen XVIII, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.000000	0.008152	0.000000	0.000000	0.008621	0.018293	0.015152	0.02632	1613.33	149	chr21	45456068	.	G	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.23;DP=1805;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.142;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr21	45468713	45468713	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon2:c.G1118A:p.R373Q,COL18A1:NM_130444:exon2:c.G1823A:p.R608Q,COL18A1:NM_001379500:exon3:c.G578A:p.R193Q	Knobloch syndrome, type 1, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	886935	COL18A1-related_disorder|Inborn_genetic_diseases|not_specified|not_provided|Knobloch_syndrome	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.0192785647505	8.2e-05	0.00139776	0.0007	0.0002	9.043e-05	0.0089	0	3.156e-05	0	0.0002	0.0006145	95	154602	rs2236453	0.0003	0.0003	0.0004	0.0003	0.0117	0.0003	0.0003	0.0109	0.0105	0	4.473e-05	0	0.0117	0	0	1.979e-05	0.0002	8.116e-05	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0058	0.0052	4.81e-05	0	6.531e-05	0	0.0077	0	0	0	0	0.0002	0.511	0.07473	T	0.34	0.18018	T	0.026	0.22658	B	0.002	0.13708	B	0.488173	0.12087	N	0.726704	1	0.08975	N	0.69	0.16971	N	0.89	0.45636	T	0.24	0.04533	N	0.064	0.03956	-0.9841	0.34045	T	0.046	0.19800	T	10	0.0039824843	0.00077	T	0.019279	0.41600	T	0.046	0.12618	.	.	0.281780670237	0.27795	0.19856987531677855	0.19773	0.076962351002	0.08643	0.309449732304	0.11825	T	0.074743	0.35011	T	-0.684105	0.00045	T	-0.750037	0.03484	T	0.00585184556853965	0.00064	T	0.483152	0.15096	T	0.009754506	0.00004	0.021428332	0.00194	0.014926199	0.00114	0.025603741	0.00611	-3.74	0.19910	T	0.13073248967980594	0.13780	0.066	0.02927	B	.;.;.	.;.;.	0.521618	0.08906	5.684	0.86044113436763048	0.16277	0.01064	0.03948	N	AEFBI	0.150099	0.27432	N	-1.46844227492991	0.02076	0.09129492	-1.54022599165921	0.02044	0.09343128	0.999993201399857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	-6.1	0.01956	0.914000	0.28246	-0.788000	0.07426	-0.671000	0.04298	0.031000	0.20493	0.000000	0.08366	0.002000	0.04165	0.7529:0.1178:0.1293:0.0	10.78	0.45572	645	0.63593	.;.;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1284.33	33	chr21	45468713	.	G	A	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.325;DP=731;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.447;SOR=0.908	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1298,0,1083	18	0	1	0
chr21	45532132	45532132	G	A	exonic	SLC19A1	.	nonsynonymous SNV	SLC19A1:NM_001205207:exon2:c.C86T:p.T29M,SLC19A1:NM_001205206:exon3:c.C206T:p.T69M,SLC19A1:NM_001352511:exon3:c.C206T:p.T69M,SLC19A1:NM_001352512:exon3:c.C206T:p.T69M,SLC19A1:NM_194255:exon3:c.C206T:p.T69M	.	.	.	.	.	.	.	.	.	.	.	3477290	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.248250166827	.	.	8.795e-06	0	0	0	0	1.585e-05	0	0	2.59e-05	4	154602	rs770520822	4.139e-06	4.104e-06	2.74e-06	5.56e-06	2.533e-05	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	2.275e-05	0	2.533e-05	0	0	3.622e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.226	0.25591	T	0.954	0.54400	P	0.593	0.50536	P	0.135243	0.18488	N	0.562275	0.999999	0.08975	N	1.765	0.45800	L	-2.07	0.85943	D	-1.7	0.54217	N	0.143	0.19055	-0.1974	0.77738	T	0.560	0.83989	D	10	0.37366253	0.53667	T	0.24825	0.89002	D	0.396	0.71084	0.501	0.59304	0.734064782989	0.73169	0.4361237176515991	0.43529	0.828993605942	0.67545	0.32613581419	0.14349	T	0.242706	0.62192	T	-0.0932793	0.37533	T	-0.199308	0.54712	T	0.117275467012961	0.14160	T	0.757724	0.50060	T	0.021738866	0.00792	0.06903686	0.14494	0.021738866	0.00792	0.06903686	0.14494	-9.651	0.86435	D	.	.	0.076	0.18580	B	.;.;.;.;.;.	.;.;.;.;.;.	2.214974	0.28262	17.74	0.99131189352828808	0.53275	0.13742	0.18026	N	AEFDBHCI	0.065451	0.12765	N	-0.644791949094742	0.17612	0.9077415	-0.875590381512957	0.12673	0.6533044	0.998827005342985	0.37755	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.7	-2.63	0.05775	0.830000	0.27115	-0.310000	0.10046	0.576000	0.29215	0.519000	0.27104	0.000000	0.08366	0.864000	0.41028	0.2619:0.0:0.7381:0.0	11.719	0.50938	604	0.67577	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.33	99	chr21	45532132	.	G	A	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.002;DP=1304;ExcessHet=0;FS=51.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.64;SOR=5.994	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	18	0	1	0
chr21	46126222	46126222	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon26:c.G2407A:p.D803N,COL6A2:NM_058174:exon26:c.G2407A:p.D803N,COL6A2:NM_058175:exon26:c.G2407A:p.D803N	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	471756	Bethlem_myopathy_1A|COL6A2-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.202	0.107825436935	.	.	6.768e-05	0	8.72e-05	0.0001	0	9.3e-05	0	0	5.82e-05	9	154602	rs761913437	8.014e-05	7.935e-05	8.25e-05	7.775e-05	0.0023	6.8e-05	6.329e-05	0.0013	0.0011	2.988e-05	2.237e-05	0	2.521e-05	0	0.0023	8.1e-05	8.3e-05	5.797e-05	4.604e-05	4.598e-05	5.143e-05	4.04e-05	0.0002	2.111e-05	1.528e-05	2.847e-05	1.859e-05	2.416e-05	0	0	0	0.0002	0	0	7.352e-05	0	0	0.495	0.09896	T	0.341	0.34359	T	0.001	0.07471	B	0.002	0.06944	B	0.002508	0.36425	N	0.296319	0.999996	0.08975	N	0	0.06538	N	-1.13	0.77719	T	-0.39	0.17624	N	0.688	0.69387	-0.9363	0.43195	T	0.261	0.63197	T	10	0.45618254	0.59003	T	0.107825	0.78408	D	0.202	0.48754	0.38	0.39645	0.759971447399	0.75779	0.6593918055679763	0.65876	0.15656143693	0.17672	0.457997202873	0.33036	T	0.163402	0.50845	T	-0.267118	0.12080	T	-0.415967	0.31539	T	0.0414229493846367	0.03949	T	0.953805	0.82399	D	0.06201191	0.12907	0.048520453	0.07222	0.06201191	0.12906	0.048520453	0.07222	-5.916	0.45571	T	0.15371393300349107	0.18304	0.070	0.07650	B	.;.;.;.	.;.;.;.	2.183203	0.27831	17.59	0.91438547529643222	0.20707	0.61994	0.31648	D	AEFDBI	0.328135	0.42889	N	-0.434955790100519	0.24253	1.308251	-0.351966541398685	0.26447	1.460932	0.99998734695906	0.51787	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.81	2.9	0.32809	3.300000	0.51541	5.603000	0.49031	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0911:0.1545:0.7544:0.0	8.289	0.31108	976	0.04745	von Willebrand factor, type A;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2206.33	41	chr21	46126222	.	G	A	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744;DP=876;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.404;SOR=0.881	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr21	46132472	46132472	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2980A:p.A994T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1508	14	0	0	14	0.00462046	.	.	.	134264	Glutamate_formiminotransferase_deficiency|Myosclerosis|Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1A|not_specified|Collagen_6-related_myopathy|not_provided	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:CN169374|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	.	0.0011	0.0265575	0.0124	0.0009	0.0005	0.1297	0.0147	0.0020	0.0111	0.0057	0.0106338	1644	154602	rs117931394	0.0054	0.0054	0.0054	0.0054	0.1281	0.0053	0.0053	0.1252	0.1239	0.0002	0.0003	0.0031	0.1281	0.0114	0.0026	0.0011	0.0073	0.0052	0.0064	0.0065	0.0050	0.0080	0.1280	0.0061	0.0060	0.1200	0.1168	0.0006	0	0.0008	0.0035	0.1280	0.0119	0	0.0013	0.0043	0.0089	0.507	0.07570	T	0.216	0.26226	T	0.549	0.38101	P	0.051	0.25434	B	0.117486	0.19151	N	0.536654	0.998855	0.45564	D	0.77	0.19370	N	-1.12	0.77593	T	-0.35	0.12847	N	0.062	0.03392	-1.1673	0.00593	T	0.001	0.00467	T	10	0.001766324	0.00023	T	.	.	.	0.164	0.42212	.	.	.	.	0.616830454301194	0.61615	0.137304281279	0.15482	0.352897107601	0.18348	T	0.16626	0.51243	T	-0.51605	0.00464	T	-0.384226	0.35227	T	0.00534489074507695	0.00058	T	0.768323	0.39714	T	0.016380306	0.00194	0.029998548	0.01403	0.01863278	0.00385	0.029998548	0.01402	-1.76	0.02392	T	0.1634805889871352	0.20146	0.075	0.05447	B	.	.	2.129071	0.27101	17.35	0.91155306953850568	0.20410	0.68625	0.33873	D	AEFBHCI	0.213398	0.33898	N	-0.407559630259108	0.25203	1.366469	-0.341500898710937	0.26773	1.480998	0.999995984164602	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.4	2.38	0.28415	0.967000	0.28941	4.027000	0.41303	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.101000	0.18331	0.0834:0.0:0.6125:0.3041	7.483	0.26588	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007576	0.000000	0.001359	0.000000	0.000000	0.000000	0.024540	0.022727	0.02632	1691.33	39	chr21	46132472	.	G	A	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.376;DP=790;ExcessHet=0;FS=4.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=3.75;SOR=1.154	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	18	0	1	0
chr21	46145574	46145574	G	A	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon10:c.C1103T:p.A368V,FTCD:NM_006657:exon10:c.C1103T:p.A368V,FTCD:NM_206965:exon10:c.C1103T:p.A368V	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1670314	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0503262826131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033001525	1.299e-05	2.873e-05	1.279e-05	1.319e-05	0.0001	8.12e-06	6.7e-06	3.826e-05	2.268e-05	0	0	0	0.0001	0	0	1.212e-05	0	1.267e-05	6.592e-06	6.569e-06	1.288e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.046	0.46513	D	0.064	0.56192	T	0.564	0.53620	P	0.053	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	0.76	0.49919	T	-1.49	0.47683	N	0.5	0.54757	-0.9125	0.46543	T	0.103	0.37969	T	10	0.4463673	0.58422	T	0.050326	0.64194	D	0.253	0.56294	0.662	0.79996	0.52463718601	0.52109	0.738158487145001	0.73760	0.0884928581488	0.10009	0.827162623405	0.86128	D	0.139704	0.47386	T	-0.052156	0.44120	T	-0.312695	0.43369	T	0.296355217695236	0.24852	T	0.957954	0.89432	D	0.156534	0.35320	0.18610793	0.41763	0.156534	0.35319	0.18610793	0.41762	-7.374	0.56721	T	0.3290114730426877	0.42707	0.218	0.46037	B	.;.;.;.	.;.;.;.	3.176590	0.43098	21.7	0.99531899327729789	0.69901	0.89726	0.50377	D	AEFBCI	0.920146	0.89170	D	-0.0669848107567549	0.38847	2.281595	-0.106105890221472	0.35142	2.030	0.999999623802775	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.38	3.5	0.39181	6.565000	0.73866	7.794000	0.68965	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0838:0.0:0.9162:0.0	12.300	0.54187	982	0.03397	Cyclodeaminase/cyclohydrolase;.;Cyclodeaminase/cyclohydrolase;Cyclodeaminase/cyclohydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	33	chr21	46145574	.	G	A	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.936;DP=697;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.306;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	18	0	1	0
chr21	46151751	46151751	C	T	exonic	FTCD-AS1	.	nonsynonymous SNV	FTCD-AS1:NM_001350598:exon1:c.C217T:p.R73C	.	4	1517	1	0	0	1	0.000329489	.	.	.	1546045	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.000399361	0.0003	0.0029	0.0002	0	0	0.0001	0	0.0001	0.000304	47	154602	rs201867413	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0034	0.0003	0.0006	0.0002	0	0.0007	0.0001	0.0006	0.0002	0.0008	0.0008	0.0008	0.0008	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0001	0.0006	0	0	0	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	380.33	25	chr21	46151751	.	C	T	380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.409;SOR=0.784	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,840	18	0	1	0
chr21	46152546	46152546	G	A	exonic	FTCD-AS1	.	nonsynonymous SNV	FTCD-AS1:NM_001350598:exon2:c.G478A:p.A160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs146723990	0.0040	0.0024	0.0044	0.0035	0.0053	0.0036	0.0034	0.0048	0.0046	0.0008	0.0005	0.0013	0	0.0047	0	0.0053	0.0039	0	0.0031	0.0031	0.0034	0.0028	0.0054	0.0029	0.0028	0.0050	0.0048	0.0009	0.0077	0.0005	0.0029	0	0.0040	0	0.0054	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	64.85	.	chr21	46152546	.	G	A	64.85	.	AC=2;AF=0.067;AN=30;DP=38;ExcessHet=0;FS=0;InbreedingCoeff=0.2857;MLEAC=2;MLEAF=0.067;MQ=60;QD=32.43;SOR=2.303	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,30	14	1	0	4
chr21	46219478	46219478	C	T	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon5:c.G405A:p.M135I,LSS:NM_001001438:exon6:c.G645A:p.M215I,LSS:NM_001145436:exon6:c.G612A:p.M204I,LSS:NM_002340:exon6:c.G645A:p.M215I	Cataract 44, Autosomal recessive	.	.	.	.	.	.	.	0.0019	0.008	YES	3410989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	.	0.0007	0.00119808	0.0002	0.0017	0	0	0	0	0	7.92e-05	0.0001617	25	154602	rs111335500	7.032e-05	7.319e-05	7.611e-05	6.446e-05	0.0024	5.883e-05	5.487e-05	0.0020	0.0018	0.0024	0	0	0	0	0.0004	1.819e-06	0.0003	2.432e-05	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0	0	0.246	0.24564	T	0.27	0.23433	T	0.188	0.29318	B	0.059	0.26602	B	0.000000	0.84330	D	0.044802	1	0.81001	D	1.585	0.39878	L	1.06	0.39781	T	-1.15	0.32387	N	0.798	0.79406	-1.0666	0.10177	T	0.063	0.26065	T	10	0.023896039	0.00639	T	.	.	.	0.182	0.45420	0.42	0.46200	0.617576649361	0.61448	0.8477246519116275	0.84733	0.320577537376	0.34268	0.698547363281	0.66934	T	0.050118	0.28503	T	-0.166751	0.25727	T	-0.0423813	0.67540	D	0.0674917301187131	0.08295	T	0.960604	0.94289	D	0.71747005	0.79021	0.44597602	0.67727	0.71747005	0.79022	0.44597602	0.67728	-5.886	0.45316	T	.	.	0.604	0.69057	P	.;.;.;.;.	.;.;.;.;.	3.133017	0.42339	21.5	0.94833199701543014	0.25615	0.93412	0.58148	D	AEFDBCI	0.758783	0.69732	D	-0.0433769229043718	0.39899	2.360481	0.0541297874116429	0.42272	2.553927	0.999999995089343	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.62	3.71	0.41733	5.881000	0.69450	3.841000	0.40042	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.9174:0.0:0.0826	12.773	0.56808	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.;Squalene cyclase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2275.33	34	chr21	46219478	.	C	T	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.071;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	18	0	1	0
chr21	46265445	46265445	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon12:c.C3110T:p.A1037V	.	415	1106	1	0	0	1	0.000451875	.	.	.	1490458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00365388245531	0.0002	.	3.339e-05	0.0003	0	0	0.0002	0	0	0	3.23e-05	5	154602	rs150103441	4.515e-05	4.515e-05	3.54e-05	5.501e-05	0.0003	3.641e-05	3.322e-05	0.0002	0.0001	0.0003	0	0	0	9.366e-05	0	3.687e-05	0.0001	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.163e-05	6.72e-05	0.0002	0.0001	0.0003	0	0	0	0	9.418e-05	0	8.821e-05	0	0	0.402	0.10412	T	0.267	0.22561	T	0.001	0.07471	B	0.0	0.01387	B	0.000541	0.00634	N	2.729430	1	0.08975	N	-0.29	0.03673	N	3.85	0.03650	T	0.54	0.02764	N	0.075	0.05037	-0.9719	0.36798	T	0.009	0.03054	T	10	0.032916605	0.01455	T	0.003654	0.08402	T	0.023	0.04649	.	.	0.102598925029	0.09809	0.16515060430191142	0.16435	0.121108408864	0.13643	0.426903009415	0.28785	T	0.062229	0.31862	T	-0.639599	0.00084	T	-0.826515	0.01325	T	0.00581890007687215	0.00064	T	0.374563	0.08910	T	0.010447457	0.00007	0.023718096	0.00385	0.010447457	0.00007	0.023718096	0.00385	-4.241	0.27341	T	.	.	0.07	0.03479	B	.;.	.;.	-0.722359	0.01269	0.066	0.74468096046889176	0.10706	0.09153	0.14966	N	AEFBCI	0.024390	0.01504	N	-1.52904655328586	0.01661	0.07266618	-1.67214385835862	0.01266	0.05706139	0.999816025847553	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	-8.2	0.00918	-0.164000	0.09972	-5.992000	0.01530	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5193:0.2171:0.1541:0.1094	2.970	0.05560	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2851.33	37	chr21	46265445	.	G	A	2851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=837;ExcessHet=0;FS=6.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.109;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1282	18	0	1	0
chr21	46283820	46283820	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon2:c.C1238T:p.P413L	.	425	1086	11	0	0	11	0.00503894	.	.	.	1284795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0003	0.0177716	0.0092	0.0012	0.0007	0.0032	0	4.497e-05	0.0077	0.0638	0.0082017	1268	154602	rs17182566	0.0040	0.0040	0.0024	0.0057	0.0606	0.0039	0.0039	0.0593	0.0587	0.0016	0.0005	3.826e-05	0.0022	0	0.0023	8.099e-05	0.0061	0.0606	0.0033	0.0033	0.0020	0.0046	0.0737	0.0030	0.0029	0.0674	0.0649	0.0015	0	0.0017	0	0.0054	0	0	8.821e-05	0.0099	0.0737	0.004	0.65419	D	0.003	0.76473	D	0.795	0.44777	P	0.095	0.30245	B	0.000018	0.62929	D	0.118770	0.999993	0.08975	N	2.585	0.75554	M	3.66	0.04228	T	-2.28	0.50830	N	0.124	0.12627	-0.9063	0.47297	T	0.009	0.03315	T	10	0.002065301	0.00029	T	.	.	.	0.113	0.31778	.	.	0.134007934775	0.12933	0.5351870173958186	0.53443	0.0676595727789	0.07564	0.444203019142	0.31151	T	0.316252	0.68780	T	-0.597999	0.00150	T	-0.585424	0.14066	T	0.0262718095973514	0.01443	T	0.713829	0.32570	T	0.12150753	0.28572	0.12732299	0.30651	0.12690529	0.29711	0.12732299	0.30651	-4.919	0.35948	T	.	.	0.083	0.09191	B	.;.	.;.	3.537381	0.49663	22.8	0.98798211935288616	0.46413	0.45009	0.27444	N	AEFDBC	0.297975	0.40742	N	-0.0709624492963428	0.38669	2.268441	-0.0533052028531491	0.37348	2.18553	0.99999691295613	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.27	3.43	0.38372	4.157000	0.57925	7.103000	0.57542	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.559000	0.30388	0.1256:0.0:0.8744:0.0	12.162	0.53412	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.02632	1039.33	46	chr21	46283820	.	G	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.726;SOR=0.644	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1577	18	0	1	0
chr21	46302072	46302074	TGG	-	exonic	C21orf58	.	nonframeshift deletion	C21orf58:NM_001286463:exon7:c.576_578del:p.H193del,C21orf58:NM_001286462:exon8:c.576_578del:p.H193del,C21orf58:NM_001286476:exon8:c.576_578del:p.H193del,C21orf58:NM_001286477:exon8:c.576_578del:p.H193del,C21orf58:NM_058180:exon8:c.894_896del:p.H299del	.	376	628	428	81	9	599	0.31961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	.	0.0100	0.0251	0.0057	0.0060	0	0.0039	0.0268	0.0110	0.0001153	3	26028	rs750021148	0.0011	0.0036	0.0011	0.0011	0.0223	0.0011	0.0010	0.0209	0.0203	0.0223	0.0031	0.0010	0.0006	0.0010	0.0016	0.0004	0.0023	0.0009	0.0057	0.0057	0.0060	0.0055	0.0197	0.0054	0.0053	0.0186	0.0181	0.0197	0	0.0021	0	0	0	0.0034	0.0002	0.0048	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12675.9	39	chr21	46302071	.	ATGG	A	12675.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=1028;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=0.364;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:71:99:1387,1492,2926	18	0	1	0
chr21	46363783	46363783	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon14:c.C2104T:p.R702C,PCNT:NM_006031:exon14:c.C2458T:p.R820C	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	377335	not_provided|PCNT-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.0562089914483	7.7e-05	.	0.0002	9.726e-05	8.651e-05	0	0	0.0003	0	0	0.0001617	25	154602	rs369586175	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	8.966e-05	2.237e-05	3.826e-05	0	0	0	0.0002	6.625e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.575e-05	6.28e-05	0.0001	8.876e-05	9.646e-05	0	0	0	0.0002	0	0	0.0002	0	0	0.067	0.35918	T	0.002	0.79402	D	0.801	0.45051	P	0.08	0.28873	B	0.088355	0.20485	N	0.258978	0.572427	0.31167	N	2.075	0.57047	M	1.78	0.25678	T	-3.64	0.69835	D	0.407	0.44761	-0.9817	0.34608	T	0.042	0.18160	T	10	0.17512968	0.32428	T	0.056209	0.66522	D	0.070	0.20419	.	.	0.500426043041	0.49678	0.07328031521787719	0.07265	0.456923581491	0.45342	0.311188578606	0.12086	T	0.198162	0.55505	T	-0.322689	0.06679	T	-0.411154	0.32093	T	0.10286127446137	0.12669	T	0.816218	0.47186	T	0.12845284	0.30030	0.12412621	0.29922	0.12845284	0.30030	0.12412621	0.29921	-8.298	0.63082	D	.	.	0.124	0.26010	B	.	.	4.028796	0.59562	24.1	0.9982566955130312	0.90764	0.83621	0.42726	D	AEFDBI	0.218643	0.34362	N	0.00998915019766952	0.42308	2.546774	0.0766525710351052	0.43378	2.640717	0.664565686691665	0.22308	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.27	3.34	0.37357	1.695000	0.37381	3.475000	0.38608	0.549000	0.26987	0.973000	0.34540	1.000000	0.68203	0.887000	0.42601	0.2719:0.6335:0.0:0.0946	5.943	0.18440	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2602.33	41	chr21	46363783	.	C	T	2602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=800;ExcessHet=0;FS=1.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.38;SOR=0.548	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1284	18	0	1	0
chr21	46411265	46411265	T	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.T4838C:p.L1613S,PCNT:NM_006031:exon28:c.T5192C:p.L1731S	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2058246	not_provided|PCNT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.00969689088481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160600323	3.42e-06	3.42e-06	1.361e-06	5.5e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.020193	0.27093	N	0.000000	1	0.08975	N	2.455	0.71248	M	4.24	0.02590	T	-4.75	0.80256	D	0.688	0.69387	-1.1133	0.02801	T	0.036	0.15553	T	10	0.7046599	0.72661	D	0.009697	0.25336	T	0.125	0.34456	0.225	0.14960	0.670955036297	0.66817	0.4028187737648463	0.40197	0.453830377377	0.45067	0.524197757244	0.42218	T	0.345388	0.71378	T	-0.115733	0.33822	T	-0.307165	0.43963	T	0.960262477397919	0.65757	D	0.667233	0.27634	T	0.24153152	0.47070	0.37862542	0.62936	0.24153152	0.47070	0.37862542	0.62936	-8.977	0.67549	D	.	.	0.666	0.71562	P	.	.	3.603348	0.50905	23.0	0.99733205162941208	0.82904	0.43818	0.27182	N	AEFDBI	0.111385	0.22054	N	0.255414404528892	0.53905	3.55776	0.0815723122984779	0.43621	2.660201	0.999997865954889	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	3.427000	0.52552	7.719000	0.67224	0.665000	0.62972	0.647000	0.28146	0.992000	0.31684	0.026000	0.12556	0.0:0.0:0.0:1.0	13.577	0.61343	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3793.33	33	chr21	46411265	.	T	C	3793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=956;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.27;SOR=0.762	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1380	18	0	1	0
chr21	46411687	46411687	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.G5260A:p.E1754K,PCNT:NM_006031:exon28:c.G5614A:p.E1872K	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	493913	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II|PCNT-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0113399748003	0.0017	0.00179712	0.0006	0.0061	0.0002	0.0005	0	1.577e-05	0	0.0004	0.0005304	82	154602	rs112853262	0.0002	0.0002	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0051	0.0060	0.0004	0	0.0004	0	0.0005	3.328e-05	0.0006	0.0003	0.0017	0.0017	0.0016	0.0018	0.0059	0.0015	0.0015	0.0053	0.0051	0.0059	0	0.0007	0	0.0002	0	0	0	0.0014	0.0002	0.014	0.53172	D	0.073	0.43159	T	0.983	0.60381	D	0.403	0.44588	B	0.728057	0.09878	N	0.816391	0.999991	0.08975	N	1.795	0.47270	L	4.59	0.01885	T	-2.2	0.49519	N	0.14	0.13911	-0.8445	0.52345	T	0.008	0.02842	T	10	0.009754062	0.00219	T	0.01134	0.28865	T	0.151	0.39764	.	.	0.468085328875	0.46433	0.2916156461315663	0.29074	0.310774122975	0.33387	0.264351993799	0.05420	T	0.079839	0.36222	T	-0.561746	0.00248	T	-0.576796	0.14832	T	0.041541020365943	0.03971	T	0.831417	0.49863	T	0.13120966	0.30592	0.09030073	0.21166	0.13120966	0.30592	0.09030073	0.21166	-6.51	0.50363	T	.	.	0.100	0.17317	B	.	.	2.125088	0.27051	17.33	0.99337575834658709	0.60051	0.56722	0.30190	D	AEFBI	0.072123	0.14382	N	-0.479094757920915	0.22767	1.217982	-0.571576117335528	0.20236	1.089296	0.766662234972327	0.23598	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.07	2.2	0.26966	1.981000	0.40250	1.441000	0.26527	-0.157000	0.11712	0.985000	0.35982	0.878000	0.27671	0.068000	0.16518	0.0:0.6863:0.3137:0.0	16.454	0.83849	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6268.33	33	chr21	46411687	.	G	A	6268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1009;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.455;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1034:.	18	0	1	0
chr21	46411753	46411753	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.G5326A:p.V1776I,PCNT:NM_006031:exon28:c.G5680A:p.V1894I	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	430493	not_provided|PCNT-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0132763824901	0.0004	0.000399361	0.0001	0.0009	0.0002	0.0001	0	5.239e-05	0	6.414e-05	0.0001682	26	154602	rs113208348	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0013	0.0011	0.0016	4.476e-05	0	7.559e-05	0	0.0005	8.816e-05	0.0003	8.117e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0.0006	0	0	0	0	0	0	8.823e-05	0	0	1.0	0.00964	T	0.912	0.02943	T	0.265	0.31634	B	0.005	0.11217	B	0.385857	0.13324	N	0.554792	1	0.08975	N	-0.185	0.04235	N	4.85	0.01470	T	0.25	0.04456	N	0.041	0.01421	-0.9033	0.47639	T	0.003	0.00832	T	10	0.009223193	0.00208	T	0.013276	0.32560	T	0.052	0.14661	.	.	0.141422826196	0.13715	0.03651092333601767	0.03598	0.0666021734237	0.07428	0.300904899836	0.10536	T	0.019598	0.15585	T	-0.672019	0.00053	T	-0.813499	0.01588	T	0.0149154487239627	0.00317	T	0.580842	0.21027	T	0.017833749	0.00307	0.021228362	0.00182	0.017833749	0.00307	0.021228362	0.00182	-5.878	0.45247	T	.	.	0.113	0.22208	B	.	.	-1.875660	0.00133	0.002	0.48664048736090793	0.04080	0.00402	0.02007	N	AEFDBI	0.017089	0.00426	N	-1.51368906748782	0.01759	0.07704347	-1.62859409823699	0.01490	0.06746222	0.999999713698455	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.8	-9.79	0.00411	-5.073000	0.00181	-2.279000	0.03958	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1567:0.3446:0.4987:0.0	10.358	0.43160	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2733.33	33	chr21	46411753	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=886;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.33;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1034	18	0	1	0
chr21	46422003	46422003	C	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon32:c.C6704G:p.P2235R,PCNT:NM_006031:exon32:c.C7058G:p.P2353R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1499491	not_provided|PCNT-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00528796773909	0.0003	0.000399361	9.093e-05	0.0010	0	0	0	0	0	6.057e-05	9.7e-05	15	154602	rs139978398	5.199e-05	5.199e-05	6.398e-05	3.988e-05	0.0016	4.258e-05	3.888e-05	0.0012	0.0011	0.0016	0	0	0	0	0.0005	1.799e-06	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.177	0.29740	T	0.035	0.20614	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	4.91	0.01413	T	0.05	0.06369	N	0.122	0.11340	-0.9032	0.47650	T	0.003	0.00864	T	9	0.010094613	0.00226	T	0.005288	0.13525	T	0.011	0.01250	.	.	0.136095386433	0.13204	0.09652096021677592	0.09584	0.111931867433	0.12625	0.27534738183	0.06852	T	0.030236	0.21478	T	-0.63109	0.00094	T	-0.74677	0.03613	T	0.00507533364201443	0.00055	T	0.342266	0.07430	T	0.025126876	0.01415	0.040206484	0.04292	0.025126876	0.01415	0.040206484	0.04292	-3.994	0.23714	T	.	.	0.080	0.07745	B	.	.	-0.963130	0.00825	0.028	0.4487222821868509	0.03481	0.01186	0.04246	N	AEFDBI	0.025578	0.01773	N	-1.50729421214601	0.01801	0.07894734	-1.61728862503719	0.01553	0.07040563	0.999996830040291	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.19	-6.93	0.01480	-1.029000	0.03696	-2.171000	0.04109	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1526:0.2743:0.2863:0.2869	1.026	0.01433	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	848.33	33	chr21	46422003	.	C	G	848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=714;ExcessHet=0;FS=7.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.211;SOR=1.354	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr21	46431695	46431695	A	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon38:c.A7877T:p.Q2626L,PCNT:NM_006031:exon38:c.A8231T:p.Q2744L	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2142110	Inborn_genetic_diseases|not_provided|PCNT-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0132858004339	7.7e-05	0.000199681	5.108e-05	0	0	0	0	3.113e-05	0	0.0002	5.82e-05	9	154602	rs142543426	3.492e-05	3.489e-05	2.316e-05	4.68e-05	0.0012	2.699e-05	2.44e-05	0.0006	0.0004	0	0	0	0	0	0.0012	8.096e-06	4.971e-05	0.0004	5.251e-05	5.249e-05	2.569e-05	8.053e-05	0.0006	2.555e-05	1.828e-05	0.0002	8.985e-05	0	0	6.531e-05	0	0	0	0	5.88e-05	0	0.0006	0.1	0.30515	T	0.176	0.29843	T	0.958	0.54977	D	0.534	0.48679	P	0.366680	0.13589	N	0.554792	0.83823	0.28667	N	2.565	0.75005	M	2.8	0.11082	T	-5.23	0.83899	D	0.347	0.38848	-1.0707	0.09260	T	0.035	0.14857	T	10	0.1588183	0.29856	T	0.013286	0.32578	T	0.111	0.31313	.	.	0.451213972277	0.44741	0.374054814721335	0.37319	0.194200511898	0.21755	0.315383970737	0.12721	T	0.300111	0.67262	T	-0.361619	0.04039	T	-0.465068	0.26050	T	0.279299974441528	0.24142	T	0.587141	0.21465	T	0.13212593	0.30775	0.15255211	0.35887	0.13212593	0.30775	0.15255211	0.35886	-7.268	0.55967	T	.	.	0.266	0.50054	B	.	.	2.378923	0.30534	18.47	0.98412288370857459	0.41191	0.75097	0.36755	D	AEFDBI	0.078723	0.15888	N	-0.367961102554833	0.26617	1.454048	-0.377737687362284	0.25663	1.412633	0.99822739413317	0.36603	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.32	1.5	0.22029	0.989000	0.29229	4.353000	0.43094	-0.040000	0.17491	0.977000	0.34929	1.000000	0.68203	0.053000	0.15439	0.7883:0.0:0.2117:0.0	9.251	0.36716	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1193.33	38	chr21	46431695	.	A	T	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=735;ExcessHet=0;FS=3.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.781;SOR=0.395	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1431	18	0	1	0
chr21	46432075	46432075	T	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_006031:exon38:c.T8611G:p.L2871V	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00703547058174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.387	0.15650	T	0.247	0.31125	B	0.077	0.28532	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	4.4	0.02215	T	-1.16	0.29727	N	0.093	0.07262	-0.9059	0.47343	T	0.004	0.01295	T	9	0.046727985	0.03899	T	0.007035	0.18621	T	0.008	0.00669	0.204	0.11936	0.152612264143	0.14878	0.044117822436997724	0.04355	0.0819930394997	0.09240	0.303802132607	0.10971	T	0.124832	0.45013	T	-0.296844	0.08961	T	-0.664173	0.07988	T	0.143162325497243	0.16544	T	0.417258	0.10990	T	0.03074506	0.02791	0.049629398	0.07625	0.03074506	0.02790	0.049629398	0.07624	-6.541	0.50602	T	.	.	0.129	0.27493	B	.	.	1.169601	0.15592	11.96	0.98442630139806286	0.41531	0.12043	0.17024	N	AEFDBI	0.097743	0.19708	N	-1.29613267026673	0.03722	0.1667582	-1.36467233759722	0.03635	0.1700078	0.999986061289237	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	-3.92	0.03880	-0.334000	0.07927	-0.044000	0.12631	-0.123000	0.13640	0.000000	0.06391	0.001000	0.17328	0.090000	0.17789	0.0:0.4146:0.2404:0.345	6.851	0.23194	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	41	chr21	46432075	.	T	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.881;DP=963;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.271;SOR=0.689	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chr21	46511510	46511510	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon7:c.C869T:p.P290L,DIP2A:NM_001353944:exon7:c.C749T:p.P250L,DIP2A:NM_001146116:exon8:c.C986T:p.P329L,DIP2A:NM_001353942:exon8:c.C1001T:p.P334L,DIP2A:NM_001353943:exon8:c.C998T:p.P333L,DIP2A:NM_015151:exon8:c.C998T:p.P333L,DIP2A:NM_206889:exon8:c.C998T:p.P333L,DIP2A:NM_206890:exon8:c.C998T:p.P333L,DIP2A:NM_206891:exon8:c.C998T:p.P333L	.	420	1090	12	0	0	12	0.00547445	.	.	.	3215065	DIP2A-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0313655495448	0.0008	0.000599042	0.0008	0.0002	0.0011	0	0.0005	0.0009	0.0025	0.0014	0.0006986	108	154602	rs201955611	0.0005	0.0005	0.0005	0.0006	0.0056	0.0005	0.0005	0.0040	0.0035	0.0003	0.0008	0.0018	2.523e-05	0.0007	0.0056	0.0004	0.0007	0.0013	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0005	0.0004	2.405e-05	0	0.0006	0.0029	0	0.0003	0	0.0006	0.0005	0.0010	0.072	0.35537	T	0.047	0.53072	D	0.027	0.21686	B	0.031	0.25278	B	0.000016	0.62929	N	0.069434	0.999997	0.58761	D	2.295	0.65404	M	3.01	0.09075	T	-4.54	0.86073	D	0.414	0.52208	-1.0761	0.08124	T	0.028	0.12014	T	10	0.023014784	0.00590	T	0.031366	0.53467	D	0.150	0.39571	.	.	0.117191471859	0.11215	0.4926527262117567	0.49186	0.910803748371	0.71052	0.458713203669	0.33134	T	0.231246	0.59752	T	-0.490637	0.00644	T	-0.523094	0.19982	T	0.0913932192506496	0.11382	T	0.792821	0.43457	T	0.06356217	0.13397	0.069522865	0.14658	0.06356217	0.13397	0.069522865	0.14657	-9.961	0.74769	D	.	.	0.081	0.10594	B	.;.;.;.;.	.;.;.;.;.	2.125960	0.27065	17.33	0.76005210028885517	0.11296	0.97185	0.73190	D	AEFDBI	0.431272	0.49363	N	-0.615868547784577	0.18467	0.9590107	-0.568762003828735	0.20309	1.093646	0.999997742995741	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.61	0.40494	4.997000	0.63662	1.357000	0.25852	-0.800000	0.03169	1.000000	0.71638	0.089000	0.22506	0.005000	0.06747	0.0:0.8525:0.0:0.1475	11.458	0.49439	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.017544	0.000000	0.000000	0.006098	0.000000	0.02632	2108.33	41	chr21	46511510	.	C	T	2108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.87;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr21	46549874	46549874	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146116:exon22:c.C2614T:p.R872C,DIP2A:NM_001353942:exon22:c.C2629T:p.R877C,DIP2A:NM_001353943:exon22:c.C2626T:p.R876C,DIP2A:NM_015151:exon22:c.C2626T:p.R876C,DIP2A:NM_206889:exon22:c.C2626T:p.R876C	.	411	1110	1	0	0	1	0.000450248	.	.	.	2391365	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.0317768614319	0.0002	.	0.0001	0	0	0.0001	0.0002	0.0002	0	0	0.0001423	22	154602	rs199807759	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.961e-05	2.236e-05	0	7.557e-05	3.92e-05	0	0.0002	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	6.533e-05	0	0	0.0003	0	0.0004	0	0	0.003	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	2.8	0.31987	T	-6.8	0.92903	D	0.912	0.91621	-0.7025	0.60318	T	0.198	0.55357	T	10	0.7256283	0.73954	D	0.031777	0.53776	D	0.239	0.54358	.	.	0.427389866859	0.42359	0.6521423749795948	0.65150	1.04814267846	0.76033	0.832296133041	0.86914	D	0.402132	0.75924	T	-0.125793	0.32179	T	-0.112492	0.62411	T	0.472296893596649	0.31615	T	0.996523	0.98753	D	0.6208393	0.73808	0.3184562	0.57813	0.6208393	0.73810	0.3184562	0.57812	-11.817	0.83948	D	.	.	0.441	0.79850	A	.;.;.	.;.;.	5.128211	0.85808	28.7	0.99931151901744919	0.99387	0.91632	0.53934	D	AEFDBI	0.426960	0.49110	N	0.66214548134097	0.77157	6.620939	0.595896858946546	0.74644	6.17244	0.999620249835617	0.41093	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	1.986000	0.40299	3.940000	0.40597	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.294:0.706:0.0:0.0	11.172	0.47802	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1287.33	33	chr21	46549874	.	C	T	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.75;DP=768;ExcessHet=0;FS=13.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.395;SOR=1.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	18	0	1	0
chr21	46651833	46651833	C	T	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242865:exon7:c.C682T:p.L228F	.	388	1132	2	0	0	2	0.000882613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	0.00259585	0.0016	0.0002	8.741e-05	0	0	1.589e-05	0	0.0109	0.0012872	199	154602	rs545645082	0.0007	0.0007	0.0004	0.0010	0.0112	0.0007	0.0006	0.0106	0.0104	6.008e-05	0	0	0	0	0.0003	8.095e-06	0.0006	0.0112	0.0003	0.0003	0.0002	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0102	0.529	0.07048	T	0.175	0.29945	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	0.82	0.01813	N	0.131	0.12627	-0.8917	0.48784	T	0.203	0.56045	T	5	0.004135251	0.00081	T	.	.	.	0.055	0.15663	0.55	0.66576	0.274431252636	0.27063	.	.	.	.	.	.	.	.	.	.	-0.56256	0.00245	T	-0.57146	0.15316	T	0.00944473802456525	0.00121	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-6.954	0.53698	T	.	.	0.103	0.18539	B	.	.	0.247175	0.06266	2.723	0.68643644782358249	0.08721	0.00426	0.02096	N	AEFBI	0.031366	0.03344	N	-0.745750896918345	0.14749	0.7373589	-0.991133437262774	0.09984	0.500006	0.631509841830458	0.21972	0.833774	0.99917	0	0.702456	0.74545	0	0.0	0.00061	3	0.635551	0.53088	0	.	.	0.235	0.235	0.14697	-0.059000	0.11688	0.480000	0.18797	0.333000	0.19617	0.002000	0.15269	0.004000	0.18990	0.010000	0.09038	.	.	.	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1231.33	33	chr21	46651833	.	C	T	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=687;ExcessHet=0;FS=5.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-1.213;SOR=0.275	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	18	0	1	0
chr22	15528351	15528351	T	C	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.T193C:p.W65R	.	537	975	10	0	0	10	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0297161768361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149999478	0.0009	0.0020	0.0010	0.0009	0.0078	0.0009	0.0009	0.0070	0.0067	0.0078	0.0019	0.0026	0	0.0002	0.0046	0.0007	0.0020	0.0002	0.0033	0.0053	0.0034	0.0031	0.0091	0.0030	0.0029	0.0083	0.0080	0.0091	0	0.0025	0.0014	0	0.0005	0.0103	0.0010	0.0014	0	0.568	0.06223	T	0.373	0.16328	T	.	.	.	.	.	.	0.741201	0.06429	N	1.171190	.	.	.	.	.	.	3.8	0.03781	T	0.05	0.06369	N	0.086	0.06322	-0.9305	0.44066	T	0.005	0.01725	T	9	0.0111835	0.00246	T	0.003987	0.09462	T	.	.	0.376	0.38994	0.123314135267	0.11883	0.17031545831944409	0.16951	.	.	0.285326629877	0.08246	T	0.00142	0.00883	T	-0.344233	0.05100	T	-0.732244	0.04226	T	0.0419040925484779	0.04037	T	0.0630937	0.00459	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.135	0.31125	B	.;.	.;.	0.876995	0.12500	9.031	0.33756861390606369	0.02028	0.00246	0.01361	N	AEFI	0.018295	0.00544	N	-1.51919454913134	0.01723	0.0754404	-1.54558912379224	0.02006	0.09167587	1.17806289158194E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.996000	0.01560	.	.	0.374000	0.20344	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1648.33	633	chr22	15528351	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=2589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.99;MQRankSum=-1.408;QD=2.6;ReadPosRankSum=0.542;SOR=0.709	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr22	15528543	15528543	C	T	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.C385T:p.L129F	.	577	937	8	0	0	8	0.0042508	.	.	.	3366907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00749487106293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290260858	0.0006	0.0011	0.0006	0.0006	0.0052	0.0006	0.0006	0.0043	0.0040	0.0052	0.0009	0.0011	0	0.0001	0.0025	0.0006	0.0009	0.0001	0.0019	0.0041	0.0020	0.0018	0.0050	0.0017	0.0017	0.0045	0.0042	0.0050	0	0.0019	0.0006	0	9.463e-05	0.0035	0.0007	0.0010	0.0002	1.0	0.00964	T	0.995	0.02336	T	.	.	.	.	.	.	0.482977	0.12144	N	0.663894	.	.	.	.	.	.	2.6	0.13204	T	4.14	0.00049	N	0.181	0.19593	-0.9434	0.42073	T	0.021	0.08824	T	9	0.009864539	0.00221	T	0.006534	0.17215	T	.	.	0.418	0.45873	0.484294873522	0.48060	0.0468725801710379	0.04630	.	.	0.278370857239	0.07266	T	0.00119	0.00692	T	-0.289407	0.09696	T	-0.653489	0.08711	T	0.0397162234268787	0.03638	T	0.641436	0.26183	T	.	.	.	.	.	.	.	.	-6.318	0.48864	T	.	.	0.087	0.11461	B	.;.	.;.	-0.210858	0.03035	0.466	0.063103759518214994	0.00022	0.00321	0.01686	N	AEFI	0.022082	0.01060	N	-1.751666324304	0.00674	0.02909869	-1.81954680037607	0.00699	0.03111026	1.27382114649005E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	-1.17	0.09152	-1.039000	0.03660	.	.	0.339000	0.19733	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3123:0.6877:0.0:0.0	5.701	0.17152	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	76.33	108	chr22	15528543	.	C	T	76.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.415;DP=1332;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26;MQRankSum=-0.916;QD=0.71;ReadPosRankSum=0.091;SOR=0.247	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chr22	15698769	15698769	G	T	splicing	POTEH	NM_001136213:exon4:c.1028+1G>T	.	.	.	498	1014	9	0	1	10	0.00441826	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.331e-05	0	0	0	0	6.256e-05	0.0012	0	3.84e-05	1	26028	rs768456850	3.639e-05	0.0009	1.775e-05	5.524e-05	0.0005	2.838e-05	2.574e-05	0.0003	0.0003	2.994e-05	0	0	0	0	0.0005	1.08e-05	1.665e-05	0.0004	7.241e-05	0.0008	3.864e-05	0.0001	0.0011	3.978e-05	3.133e-05	0.0004	0.0003	2.419e-05	0	6.543e-05	0	0	0	0	5.886e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252898	0.13744	T	-0.601047	0.12723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.520591	0.49350	22.8	0.8413159350197662	0.15115	0.65230	0.32668	D	AEFI	.	.	.	0.409239379146491	0.61929	4.40093	0.0426914032857451	0.41721	2.511202	1.53527211741348E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0859718	0.19548	1.54	1.54	0.22290	4.447000	0.59762	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	6.574	0.21751	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2525.83	95	chr22	15698769	.	G	T	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.24;DP=4286;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=42.48;MQRankSum=-3.074;QD=2.37;ReadPosRankSum=1.37;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:590,53:643:99:0|1:15698769_G_T:439,0,24396:15698769	17	0	2	0
chr22	15710995	15710995	G	C	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1481C:p.S494T	.	423	1096	3	0	0	3	0.00136674	.	.	.	3580913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779170078	2.465e-05	0.0004	1.09e-05	3.856e-05	0.0003	1.805e-05	1.602e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	7.196e-06	3.315e-05	0.0003	6.567e-05	0.0003	3.854e-05	9.403e-05	0.0013	3.514e-05	2.615e-05	0.0006	0.0004	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0013	0.003	0.68238	D	0.253	0.23501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	-1.0	0.26422	N	0.175	0.28381	-1.0267	0.21527	T	0.027	0.11441	T	9	0.034828216	0.01705	T	6.88E-4	0.00418	T	.	.	0.25	0.18757	0.0138822411134	0.00435	0.012820543893616225	0.01241	.	.	0.691581964493	0.65933	T	0.004162	0.03571	T	-0.297998	0.08849	T	-0.66583	0.07878	T	0.0815498456719353	0.10185	T	0.481052	0.14533	T	.	.	.	.	.	.	.	.	-3.762	0.20238	T	.	.	0.094	0.14339	B	.;.	.;.	0.295479	0.06715	3.223	0.69805969305405546	0.09090	0.00403	0.02011	N	AEFI	0.029294	0.02739	N	-1.70659025903079	0.00819	0.03539228	-1.8203145501542	0.00696	0.03100537	1.82287053498263E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-0.456000	0.06829	.	.	-1.647000	0.00831	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4734:0.0:0.3296:0.197	3.004	0.05656	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	227	chr22	15710995	.	G	C	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.735;DP=4168;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.56;MQRankSum=-2.087;QD=1.35;ReadPosRankSum=-0.361;SOR=0.72	GT:AD:DP:GQ:PL	0/0:184,0:184:99:0,120,1800	18	0	1	0
chr22	15711017	15711017	G	T	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1503T:p.E501D	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470465845	2.604e-05	0.0005	1.09e-05	4.134e-05	0.0007	1.936e-05	1.695e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.898e-06	1.659e-05	0.0003	1.316e-05	0.0002	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.344e-05	3.049e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.81	0.22294	N	0.358	0.41063	-1.0493	0.14593	T	0.063	0.26065	T	9	0.10650462	0.19740	T	0.00104	0.01167	T	.	.	0.277	0.23004	0.0138822411134	0.00435	0.02823830488701238	0.02773	.	.	0.650555491447	0.60064	T	0.004782	0.04195	T	-0.191801	0.21993	T	-0.513286	0.20977	T	0.136628453409336	0.15982	T	0.681532	0.29028	T	.	.	.	.	.	.	.	.	-4.412	0.29719	T	.	.	0.156	0.34470	B	.;.	.;.	0.768235	0.11380	7.995	0.98322555819485691	0.40261	0.00981	0.03737	N	AEFI	0.031899	0.03500	N	-1.00265464351718	0.08549	0.4012335	-1.2184934362017	0.05612	0.267929	1.134474640041E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.403	0.11782	-0.320000	0.08070	.	.	-0.632000	0.04510	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4253:0.0:0.5747:0.0	4.081	0.09402	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	418.09	227	chr22	15711017	.	G	T	418.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.087;DP=4509;ExcessHet=0.119;FS=0.858;InbreedingCoeff=-0.0459;MLEAC=1;MLEAF=0.026;MQ=35.17;MQRankSum=-2.001;QD=0.46;ReadPosRankSum=-0.081;SOR=0.598	GT:AD:DP:GQ:PL	0/1:378,65:443:99:431,0,9608	17	0	2	0
chr22	16966279	16966279	G	A	exonic	GAB4	.	nonsynonymous SNV	GAB4:NM_001366857:exon4:c.C650T:p.P217L,GAB4:NM_001037814:exon6:c.C1109T:p.P370L	.	422	1098	2	0	0	2	0.000909918	.	.	.	2385146	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0019053384922	0.0003	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs201893836	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	8.587e-05	8.065e-05	2.987e-05	0.0002	0.0019	0	0	0	0.0001	0.0002	0	0.0003	0.0003	0.0003	0.0004	0.0020	0.0002	0.0002	0.0015	0.0013	9.632e-05	0	0.0020	0.0009	0	0	0	0.0001	0	0	1.0	0.00964	T	0.812	0.03921	T	0.0	0.02946	B	0.0	0.01387	B	0.023140	0.01587	N	2.522350	0.999347	0.21331	N	-0.345	0.03330	N	1.63	0.28002	T	-0.47	0.15178	N	0.047	0.01911	-1.0295	0.20616	T	0.041	0.17827	T	10	0.012963623	0.00276	T	0.001905	0.03351	T	0.073	0.21317	.	.	0.445210270852	0.44144	0.04543469137858604	0.04487	0.0319325867074	0.03313	0.336297273636	0.15884	T	0.00233	0.01729	T	-0.501994	0.00557	T	-0.689556	0.06415	T	0.0109185445468723	0.00157	T	0.218178	0.02774	T	0.01728713	0.00260	0.024206128	0.00436	0.01728713	0.00260	0.024206128	0.00436	-3.486	0.16237	T	.	.	0.081	0.08033	B	.;.	.;.	0.349196	0.07226	3.819	0.21356852520658501	0.00810	0.13825	0.18072	N	AEFDBI	0.025904	0.01853	N	-1.14184949141108	0.05915	0.2709368	-1.08819828359983	0.07931	0.3878502	2.71888694965302E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	1.86	0.24489	1.646000	0.36865	4.043000	0.41441	-1.888000	0.00536	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.8653:0.0:0.1347:0.0	6.529	0.21516	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1360.33	42	chr22	16966279	.	G	A	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=792;ExcessHet=0;FS=2.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.097;SOR=0.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.05263	3678.81	35	chr22	17119423	.	C	T	3678.81	.	AC=2;AF=0.053;AN=38;DP=913;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.85;SOR=0.804	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,109,1126	18	1	0	0
chr22	17138047	17138047	G	A	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_017829:exon8:c.C1156T:p.R386C,HDHD5:NM_033070:exon8:c.C1246T:p.R416C	.	426	1083	13	0	0	13	0.00596604	.	.	.	717279	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00858829295827	0.0026	0.00299521	0.0041	0.0006	0.0024	0	0.0022	0.0050	0.0045	0.0072	0.0041009	634	154602	rs35327402	0.0053	0.0053	0.0051	0.0055	0.0092	0.0052	0.0052	0.0073	0.0071	0.0008	0.0035	0.0009	0	0.0025	0.0092	0.0058	0.0051	0.0078	0.0041	0.0041	0.0042	0.0040	0.0087	0.0039	0.0037	0.0075	0.0070	0.0010	0.0066	0.0087	0.0012	0.0002	0.0012	0.0102	0.0056	0.0057	0.0066	0.067	0.36113	T	0.154	0.34477	T	0.103	0.25884	B	0.021	0.19346	B	0.073110	0.21367	N	0.532262	0.998559	0.22078	N	.	.	.	1.81	0.25182	T	-3.81	0.71882	D	0.136	0.13341	-1.0441	0.16089	T	0.030	0.13023	T	10	0.0048992634	0.00105	T	0.008588	0.22705	T	0.044	0.11924	.	.	0.151104730317	0.14643	0.32160215630162675	0.32073	0.252569343955	0.27827	0.193930208683	0.00302	T	0.123751	0.44833	T	-0.569196	0.00224	T	-0.586242	0.13993	T	0.0246075277663513	0.01221	T	0.89531	0.63576	D	0.18121354	0.39280	0.10021732	0.23954	0.18121354	0.39280	0.10021732	0.23953	-7.855	0.60078	D	.	.	0.078	0.20117	B	.;.;.	.;.;.	2.080547	0.26459	17.13	0.98184140039803314	0.38975	0.13243	0.17745	N	AEFBI	0.189168	0.31643	N	-0.554900066410498	0.20330	1.070933	-0.523539777830351	0.21514	1.164231	0.0945017746383432	0.16207	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.47	2.2	0.26966	-0.419000	0.07136	0.522000	0.19173	0.590000	0.31872	0.000000	0.06391	0.019000	0.20708	0.955000	0.50612	0.0871:0.1262:0.4078:0.3789	3.661	0.07775	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.011696	0.000000	0.008621	0.012195	0.007576	0.02632	1359.33	33	chr22	17138047	.	G	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=769;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.92;SOR=0.45	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	0	1	0
chr22	17542836	17542836	C	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon16:c.C2204A:p.P735Q,CECR2:NM_001290047:exon16:c.C2693A:p.P898Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0203431800649	.	.	1.658e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs574162099	4.105e-06	4.104e-06	2.723e-06	5.502e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000060	0.53742	D	0.000000	0.999486	0.47237	D	2.16	0.60381	M	1.54	0.36146	T	-3.17	0.64363	D	0.508	0.56833	-0.7248	0.59224	T	0.204	0.56224	T	10	0.36061895	0.52702	T	0.020343	0.42915	T	0.160	0.41473	0.161	0.06507	0.58411752329	0.58084	0.43323794229567497	0.43240	.	.	0.423769146204	0.28355	T	0.231858	0.59828	T	-0.0689483	0.41495	T	-0.27317	0.47499	T	0.938785493373871	0.60969	D	0.875612	0.58729	D	0.30619696	0.53455	0.25319907	0.50963	0.30619696	0.53455	0.25319907	0.50962	-2.68	0.07136	T	.	.	0.224	0.48334	B	.;.;.;.	.;.;.;.	4.604801	0.72972	25.9	0.99442383750424079	0.64820	0.96779	0.70894	D	AEFDBI	0.675428	0.64082	D	0.722264431548351	0.81093	7.441909	0.688067088345478	0.81471	7.534737	0.999983844403656	0.51787	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	4.832000	0.62449	7.572000	0.60737	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.718	0.91647	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1379.33	37	chr22	17542836	.	C	A	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.606;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.722;SOR=0.662	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1211	18	0	1	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H,CECR2:NM_001290047:exon17:c.G3530A:p.R1177H	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.004076	0.005848	0.000000	0.000000	0.021341	0.041667	0.02632	3478.33	37	chr22	17548817	.	G	A	3478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=1110;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-3.097;SOR=0.633	GT:AD:DP:GQ:PL	0/1:187,146:333:99:3492,0,4541	18	0	1	0
chr22	17549561	17549561	C	T	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3782T:p.S1261L,CECR2:NM_001290047:exon17:c.C4274T:p.S1425L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0079560247197	0.0016	0.000998403	0.0022	0.0005	0.0004	0	0.0010	0.0032	0.0078	0.0011	0.0012354	191	154602	rs142851999	0.0022	0.0022	0.0022	0.0022	0.0027	0.0021	0.0021	0.0026	0.0025	0.0002	0.0004	0	0	0.0007	0.0002	0.0027	0.0015	0.0008	0.0013	0.0013	0.0014	0.0012	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0	0.0005	0	0	0.0009	0	0.0024	0.0009	0.0012	0.002	0.72154	D	0.025	0.62352	D	0.335	0.33330	B	0.058	0.26451	B	0.224799	0.16054	N	0.517985	0.930377	0.27073	N	2.28	0.64929	M	1.82	0.25018	T	-2.19	0.49352	N	0.248	0.28028	-1.0681	0.09836	T	0.045	0.19316	T	10	0.008553207	0.00194	T	0.007956	0.21110	T	0.045	0.12272	.	.	0.412328234245	0.40847	0.10050452112701154	0.09981	.	.	0.368603050709	0.20631	T	0.191634	0.54654	T	-0.419415	0.01725	T	-0.377973	0.35960	T	0.024786817327839	0.01244	T	0.825817	0.48860	T	0.15347047	0.34785	0.14781679	0.34965	0.15347047	0.34785	0.14781679	0.34965	-3.938	0.22873	T	.	.	0.094	0.15475	B	.;.;.;.	.;.;.;.	3.378711	0.46720	22.3	0.99613823642566079	0.74992	0.70297	0.34532	D	AEFDBI	0.268201	0.38474	N	-0.0579924294228354	0.39245	2.311293	0.00912095499935978	0.40136	2.390636	0.993936271990097	0.33417	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	2.687000	0.46643	4.811000	0.45042	0.545000	0.25583	0.477000	0.26777	0.527000	0.25341	0.766000	0.36367	0.1621:0.8379:0.0:0.0	12.925	0.57650	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1292.33	37	chr22	17549561	.	C	T	1292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.979;DP=848;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.56;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H,BCL2L13:NM_001270727:exon3:c.G326A:p.R109H,BCL2L13:NM_001270734:exon4:c.G254A:p.R85H,BCL2L13:NM_001363824:exon4:c.G254A:p.R85H,BCL2L13:NM_015367:exon4:c.G254A:p.R85H	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.017663	0.014620	0.000000	0.008621	0.024390	0.015152	0.02632	1097.33	33	chr22	17689010	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.03;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	17727068	17727068	C	T	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270733:exon2:c.C152T:p.A51V,BCL2L13:NM_001270727:exon5:c.C920T:p.A307V,BCL2L13:NM_001270730:exon5:c.C506T:p.A169V,BCL2L13:NM_001270726:exon6:c.C1064T:p.A355V,BCL2L13:NM_001270729:exon6:c.C506T:p.A169V,BCL2L13:NM_001270731:exon6:c.C506T:p.A169V,BCL2L13:NM_015367:exon7:c.C992T:p.A331V	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00375182721427	.	0.000599042	0.0006	0	0	0.0002	0	0	0	0.0039	0.0004592	71	154602	rs559607869	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	8.961e-05	2.236e-05	0	0.0002	0	0	1.529e-05	0.0001	0.0040	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.231e-05	0.0033	0.0028	0	0	0	0	0.0002	0	0	0	0	0.0048	0.02	0.49613	D	0.168	0.42436	T	0.382	0.34403	B	0.043	0.24256	B	0.246058	0.03615	N	1.537360	1	0.08975	N	0.805	0.20218	L	0.9	0.45248	T	-1.35	0.33598	N	0.03	0.01825	-1.0277	0.21200	T	0.066	0.27156	T	10	0.004007131	0.00077	T	0.003752	0.08713	T	0.025	0.05312	0.154	0.05752	0.541149246611	0.53767	0.11723606635027624	0.11651	0.128331405689	0.14471	0.34862190485	0.17719	T	0.006287	0.05726	T	-0.647195	0.00075	T	-0.702571	0.05686	T	0.0192073109827909	0.00627	T	0.626337	0.24975	T	0.026625985	0.01743	0.041585024	0.04759	0.026625985	0.01743	0.041585024	0.04758	-3.678	0.19496	T	.	.	0.074	0.10787	B	.;.;.;.;.	.;.;.;.;.	1.284561	0.16845	12.80	0.98990317956338503	0.49922	0.31413	0.24331	N	AEFDBIJ	0.135708	0.25613	N	-0.95334397993981	0.09618	0.4559837	-1.02514837883639	0.09233	0.4582256	0.99999970227039	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.62	1.44	0.21647	1.749000	0.37946	0.217000	0.16029	-0.257000	0.07002	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.757:0.1552:0.0877	8.389	0.31679	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1657.33	33	chr22	17727068	.	C	T	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=922;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.269;SOR=0.618	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	18	0	1	0
chr22	17773629	17773629	T	C	exonic	BID	.	nonsynonymous SNV	BID:NM_197966:exon1:c.A61G:p.R21G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00409181981346	.	.	1.699e-05	0	0	0	0	3.099e-05	0	0	3.84e-05	1	26028	rs766801403	8.219e-06	8.209e-06	1.09e-05	5.506e-06	2.519e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	0	0	2.519e-05	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.05485	T	0.563	0.09022	T	0.711	0.42090	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	-0.44	0.14588	N	0.114	0.10198	-1.0049	0.28487	T	0.021	0.08778	T	9	0.066797376	0.09215	T	0.004092	0.09775	T	0.049	0.13647	0.394	0.41935	0.0401082797425	0.02173	0.4216296487948293	0.42078	0.215301781691	0.24062	0.33499109745	0.15686	T	.	.	.	-0.405393	0.02133	T	-0.804609	0.01789	T	0.0388500156167999	0.03484	T	0.272873	0.04620	T	.	.	.	.	.	.	.	.	-3.26	0.13227	T	.	.	0.076	0.06159	B	.	.	0.901894	0.12757	9.277	0.79192595486440154	0.12631	0.01125	0.04098	N	AEFDGBHCI	0.050519	0.08837	N	-1.0421832499546	0.07742	0.3606536	-1.14446116050079	0.06868	0.3320668	0.99999793861438	0.74766	0.495885	0.18260	0	0.484254	0.07192	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	2.47	0.036	0.13508	-0.190000	0.09612	0.224000	0.16109	0.519000	0.23678	0.000000	0.06391	0.009000	0.19889	0.020000	0.11549	0.0:0.3265:0.0:0.6735	5.020	0.13698	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	684.33	40	chr22	17773629	.	T	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.116;DP=665;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.32;SOR=0.636	GT:AD:DP:GQ:PL	0/1:26,29:55:99:698,0,649	18	0	1	0
chr22	17818210	17818210	G	A	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.C4451T:p.S1484L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.247947670929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs949530829	9.299e-06	1.094e-05	9.902e-06	8.682e-06	5.454e-05	5.19e-06	4e-06	9.04e-06	3.38e-06	3.11e-05	0	0	5.454e-05	0	0	8.284e-06	0	1.244e-05	1.973e-05	1.969e-05	1.287e-05	2.69e-05	7.232e-05	5.25e-06	2.46e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.287	0.21210	T	0.168	0.28654	B	0.011	0.15521	B	.	.	.	.	0.99889	0.21827	N	1.87	0.49600	L	0.0	0.62608	T	-1.64	0.39314	N	0.101	0.08366	-0.9111	0.46719	T	0.157	0.48976	T	9	0.13100103	0.24932	T	0.247948	0.88989	D	0.086	0.25016	0.17	0.07536	0.0675242888579	0.06100	0.1281073891707835	0.12735	0.122668438614	0.13820	0.454049110413	0.32497	T	0.019223	0.15353	T	-0.213003	0.18958	T	-0.54374	0.17930	T	0.178992420493882	0.19171	T	0.625537	0.24174	T	0.086110435	0.20001	0.13341744	0.31993	0.086110435	0.20001	0.13341744	0.31993	-2.916	0.09304	T	.	.	0.084	0.09868	B	.	.	2.253542	0.28784	17.91	0.99300833553168033	0.58613	0.22541	0.21781	N	AEFDBCI	0.330325	0.43039	N	-0.502870458479332	0.21986	1.170851	-0.495977212862896	0.22264	1.208441	0.994089042021383	0.33480	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.42	4.42	0.52775	0.877000	0.27756	3.488000	0.38695	0.583000	0.30283	0.036000	0.20778	1.000000	0.68203	0.006000	0.07323	0.0945:0.0:0.9055:0.0	9.974	0.40943	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5049.81	50	chr22	17818210	.	G	A	5049.81	.	AC=2;AF=0.053;AN=38;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.16;SOR=2.058	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1271	18	1	0	0
chr22	17818420	17818420	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.G4241A:p.S1414N	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0516370604609	0.0004	0.000798722	0.0007	0.0024	0.0003	0	0	6.314e-05	0.0011	0.0031	0.0005757	89	154602	rs201703400	0.0003	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0.0017	0.0004	0	2.519e-05	0	0.0009	1.889e-05	0.0004	0.0027	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0018	0.0015	0.0020	0	0.0011	0	0.0002	0	0	7.35e-05	0	0.0029	0.068	0.35726	T	0.056	0.46632	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.99997	0.18612	N	2.095	0.58118	M	-0.28	0.67543	T	-1.0	0.26422	N	0.087	0.06454	-0.8642	0.50959	T	0.201	0.55794	T	9	0.005608052	0.00124	T	0.051637	0.64742	D	0.152	0.39956	.	.	0.0934897674506	0.08844	0.25924844083659254	0.25838	0.129465858817	0.14595	0.433167219162	0.29642	T	0.00775	0.07136	T	-0.554959	0.00272	T	-0.573928	0.15091	T	0.0117654007928776	0.00181	T	0.527847	0.17429	T	0.025145918	0.01419	0.06996015	0.14807	0.025145918	0.01419	0.06996015	0.14807	-5.773	0.44338	T	.	.	0.097	0.15966	B	.	.	1.150442	0.15382	11.81	0.97908070175491235	0.36794	0.16386	0.19365	N	AEFDBHCI	0.165105	0.29157	N	-0.517243419713209	0.21523	1.142809	-0.478099737059206	0.22758	1.238	0.879234187231082	0.25582	0.651	0.46895	0	0.577304	0.33150	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.42	4.42	0.52775	1.817000	0.38640	1.297000	0.25449	-0.224000	0.07868	0.984000	0.35821	0.037000	0.21475	0.004000	0.06068	0.1558:0.7602:0.0:0.084	8.345	0.31430	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1098.33	33	chr22	17818420	.	C	T	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=754;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.63;SOR=0.868	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1131	18	0	1	0
chr22	18126520	18126520	T	C	exonic	TUBA8	.	nonsynonymous SNV	TUBA8:NM_001193414:exon4:c.T344C:p.V115A,TUBA8:NM_018943:exon4:c.T542C:p.V181A	Polymicrogyria with optic nerve hypoplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.0927790149313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.048	0.50809	D	0.977	0.68779	D	0.953	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.36	0.98503	H	-0.5	0.70480	T	-2.72	0.58085	D	0.927	0.93135	0.654	0.92590	D	0.678	0.88862	D	10	0.91774225	0.91133	D	0.092779	0.75953	D	0.758	0.91753	0.749	0.87988	0.948175029837	0.94762	0.6416607862054335	0.64101	0.979402607938	0.73684	0.808398425579	0.83247	D	0.619739	0.88063	D	0.389947	0.89323	D	0.322355	0.89189	D	0.972470700740814	0.69713	D	0.715628	0.32820	T	0.6588933	0.75840	0.67685664	0.81022	0.6588933	0.75841	0.67685664	0.81023	-10.753	0.79899	D	.	.	0.938	0.85722	P	.;.;.	.;.;.	4.120311	0.61586	24.4	0.94851081048853303	0.25651	0.97684	0.76395	D	AEFBI	0.862638	0.78097	D	0.823946036019	0.87578	9.267169	0.679333858932609	0.80814	7.382935	0.999999599158222	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	8.017000	0.88732	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.0:1.0	15.385	0.74410	803	0.44167	.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2478.33	33	chr22	18126520	.	T	C	2478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.586;DP=880;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.097;SOR=0.775	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1439	18	0	1	0
chr22	18157736	18157736	G	A	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon2:c.G73A:p.D25N	.	425	1087	8	2	0	12	0.00548948	.	.	.	717291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0002	0.0113818	0.0066	9.614e-05	0.0006	0.0002	0	2.997e-05	0.0022	0.0475	0.0057373	887	154602	rs149306114	0.0027	0.0027	0.0014	0.0040	0.0435	0.0026	0.0026	0.0423	0.0418	0.0001	6.708e-05	0.0002	0.0001	0	0.0014	2.248e-05	0.0025	0.0435	0.0015	0.0015	0.0008	0.0022	0.0443	0.0013	0.0013	0.0395	0.0376	0.0002	0	0	0.0003	0	0	0	2.94e-05	0.0005	0.0443	0.006	0.61437	D	0.02	0.58613	D	0.244	0.31025	B	0.037	0.23121	B	0.109980	0.19461	N	0.416130	1	0.08975	N	0.695	0.17993	N	3.3	0.06368	T	-0.8	0.22078	N	0.154	0.15888	-0.9263	0.44673	T	0.008	0.02801	T	10	0.002385646	0.00035	T	.	.	.	0.017	0.02790	.	.	0.204665344411	0.20097	0.12566698284043726	0.12492	0.546934130114	0.51673	0.320371568203	0.13477	T	0.096575	0.39852	T	-0.674913	0.00051	T	-0.708661	0.05364	T	0.00801005041311881	0.00095	T	0.462854	0.13445	T	0.07477763	0.16804	0.040176682	0.04283	0.0670051	0.14468	0.040176682	0.04282	-3.81	0.20954	T	.	.	0.073	0.04723	B	.	.	0.869178	0.12421	8.954	0.98536696896807707	0.42670	0.07628	0.13636	N	AEFGBHCIJ	0.035259	0.04508	N	-1.00436552717558	0.08512	0.3994186	-1.04891728979656	0.08729	0.430634	0.999904197513726	0.45458	0.730579	0.87903	0	0.697927	0.68747	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	3.73	0.432	0.15742	0.425000	0.21065	3.014000	0.35974	0.618000	0.50648	0.042000	0.21073	0.844000	0.27327	0.006000	0.07323	0.228:0.2021:0.5699:0.0	3.861	0.08501	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	2872.83	36	chr22	18157736	.	G	A	2872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=836;ExcessHet=0.119;FS=7.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.718;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	17	0	2	0
chr22	18173229	18173229	G	A	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon9:c.G971A:p.R324Q	.	438	1083	1	0	0	1	0.000461467	.	.	.	3341690	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0132312638429	7.7e-05	.	5.961e-05	0	0	0.0002	0	8.419e-05	0	0	3.84e-05	1	26028	rs371265414	5.084e-05	5.062e-05	4.917e-05	5.253e-05	0.0007	4.143e-05	3.794e-05	0.0002	0.0001	3.007e-05	6.799e-05	0	2.527e-05	0	0.0007	4.783e-05	4.99e-05	0.0001	6.584e-05	6.565e-05	9.013e-05	4.042e-05	0.0001	3.523e-05	2.621e-05	2.848e-05	1.859e-05	7.254e-05	0	0.0001	0	0	0	0	7.355e-05	0	0	0.125	0.27310	T	0.334	0.18340	T	0.814	0.45487	P	0.207	0.37187	B	0.010880	0.29752	N	0.346086	0.995559	0.23261	N	.	.	.	3.2	0.07236	T	-1.71	0.40660	N	0.4	0.44090	-1.0070	0.27850	T	0.018	0.07282	T	10	0.26711553	0.44221	T	0.013231	0.32470	T	0.052	0.14661	.	.	0.293147016451	0.28931	0.42771734114485166	0.42688	2.33439091465	0.96697	0.223639816046	0.01530	T	0.171689	0.51990	T	-0.357924	0.04248	T	-0.550872	0.17242	T	0.117445820131631	0.14177	T	0.756924	0.38041	T	0.06248607	0.13055	0.069464184	0.14638	0.06248607	0.13054	0.069464184	0.14637	-4.449	0.30216	T	.	.	0.086	0.10594	B	.	.	2.722156	0.35608	19.94	0.99009958122725417	0.50335	0.56313	0.30085	D	AEFGBI	0.110645	0.21934	N	-0.0604734392647963	0.39136	2.30307	-0.0713177432196944	0.36582	2.130732	0.0291823538505115	0.13873	0.706548	0.73137	0	0.702456	0.74545	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	4.83	2.72	0.31179	2.561000	0.45567	3.623000	0.39291	0.637000	0.52028	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.2881:0.0:0.7119:0.0	7.051	0.24254	793	0.45818	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000522	0.005319	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2402.33	161	chr22	18173229	.	G	A	2402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.88;DP=1138;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.61;MQRankSum=0.613;QD=15.6;ReadPosRankSum=1.09;SOR=0.56	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	18	0	1	0
chr22	18607060	18607060	C	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4375T:p.A1459S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0138611463629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	7.871e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	1.066e-06	3.84e-05	0.0022	4.761e-05	6.737e-05	3.067e-05	6.577e-05	0.0016	2.009e-05	1.322e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0016	.	.	.	0.019	0.59159	D	.	.	.	.	.	.	0.000028	0.55875	D	0.070025	0.56434	0.33249	D	3.42	0.91902	M	.	.	.	.	.	.	0.57	0.59308	-0.4140	0.71582	T	0.223	0.58716	T	10	0.6375855	0.68870	D	0.013861	0.33577	T	.	.	.	.	0.18995819373	0.18626	0.5790178101614976	0.57830	.	.	0.514382719994	0.40836	T	0.119935	0.44182	T	-0.0406163	0.45858	T	-0.296119	0.45132	T	0.968958139419556	0.68421	D	0.734627	0.35069	T	0.09851852	0.23239	0.21198896	0.45650	0.09851852	0.23239	0.21198896	0.45649	-8.75	0.66073	D	.	.	0.163	0.35972	B	.	.	3.549787	0.49897	22.9	0.99594798170912646	0.73807	0.95053	0.63266	D	AEFI	0.408158	0.47995	N	0.241814611856609	0.53235	3.49338	0.115676945022904	0.45350	2.799731	1.30386690347478E-4	0.05386	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	2.56	0.29842	4.262000	0.58645	3.168000	0.36599	0.274000	0.18563	1.000000	0.71638	0.999000	0.35428	0.277000	0.23942	0.0:0.8685:0.0:0.1315	6.917	0.23544	866	0.32446	SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.34	30	chr22	18607060	.	C	A	92.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.101;DP=446;ExcessHet=0;FS=8.22;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=25;MQRankSum=0;QD=2.72;ReadPosRankSum=0.469;SOR=2.93	GT:AD:DP:GQ:PL	0/0:22,0:22:61:0,61,881	18	0	1	0
chr22	18608588	18608588	C	G	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G2847C:p.R949S	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00223078224965	.	.	0.0005	0	8.691e-05	0.0057	0	0.0001	0	0.0002	3.84e-05	1	26028	rs760651547	0.0002	0.0003	0.0002	0.0002	0.0039	0.0002	0.0002	0.0034	0.0032	2.994e-05	4.473e-05	0	0.0039	0	0.0005	5.937e-05	0.0003	0.0003	0.0002	0.0003	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0033	0	0	6.531e-05	0	0.0054	0	0	5.879e-05	0	0.0010	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	0.061216	0.22189	N	0.439409	1	0.08975	N	1.375	0.34280	L	.	.	.	.	.	.	0.115	0.10340	-1.0380	0.17924	T	0.030	0.12760	T	10	0.007375717	0.00168	T	0.002231	0.04233	T	.	.	.	.	0.0297737177859	0.01360	0.5106804975959492	0.50990	.	.	0.237180650234	0.02542	T	0.002443	0.01836	T	-0.548687	0.00297	T	-0.5624	0.16151	T	0.00627214984746456	0.00070	T	0.410759	0.10626	T	0.08019359	0.18363	0.047179207	0.06740	0.08019359	0.18363	0.047179207	0.06740	-1.829	0.02597	T	.	.	0.187	0.40376	B	.	.	-0.334834	0.02468	0.285	0.48989597659645023	0.04134	0.03483	0.08646	N	AEFBI	0.094300	0.19068	N	-0.935969289969095	0.10009	0.4763505	-1.00116802023177	0.09759	0.4874432	1.32880460892466E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.56	1.12	0.19700	-0.609000	0.05731	-3.833000	0.02507	-0.866000	0.02592	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.2227:0.5606:0.2167:0.0	5.785	0.17595	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000559	0.000000	0.000000	0.000000	0.000000	0.000000	0.003311	0.000000	0.02632	859.33	44	chr22	18608588	.	C	G	859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=1037;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.2;MQRankSum=-4.339;QD=3.27;ReadPosRankSum=-1.004;SOR=0.855	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	18	0	1	0
chr22	18609742	18609742	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G1693A:p.E565K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0048107443556	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1165217004	0.0027	0.0036	0.0028	0.0026	0.0031	0.0026	0.0026	0.0029	0.0029	0.0004	0.0031	0.0005	0	0.0044	0.0010	0.0030	0.0023	0.0004	0.0021	0.0029	0.0020	0.0022	0.0045	0.0019	0.0018	0.0037	0.0034	0.0005	0	0.0045	0.0006	0	0.0038	0	0.0025	0.0052	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	0.496902	0.05069	N	1.331580	0.999999	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.103	0.08646	-0.9912	0.32295	T	0.043	0.18326	T	10	0.025805295	0.00764	T	0.004811	0.12035	T	.	.	.	.	0.0611884634855	0.05136	0.12239925407263885	0.12166	.	.	0.776194453239	0.78353	T	0.005727	0.05178	T	-0.24639	0.14545	T	-0.591699	0.13519	T	0.00940495459558463	0.00120	T	0.536546	0.18022	T	0.027816692	0.02027	0.04319381	0.05317	0.027816692	0.02027	0.04319381	0.05317	-5.611	0.42892	T	.	.	0.151	0.33481	B	.	.	1.553386	0.19905	14.50	0.99577941395607461	0.72802	0.01740	0.05491	N	AEFBCI	0.032871	0.03794	N	-0.664091061873501	0.17050	0.8741288	-0.80343147380004	0.14413	0.7529249	0.0826621121700104	0.15906	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.61	1.56	0.22423	0.652000	0.24573	1.567000	0.27393	0.274000	0.18563	0.000000	0.06391	0.002000	0.18203	0.110000	0.18741	0.0:0.5678:0.2676:0.1646	3.531	0.07335	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	105.33	16	chr22	18609742	.	C	T	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.45;MQRankSum=1.54;QD=2.93;ReadPosRankSum=0.44;SOR=0.954	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	18	0	1	0
chr22	18918346	18918346	G	A	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.C1073T:p.T358M,LOC102724788:NM_001368249:exon11:c.C1397T:p.T466M,LOC102724788:NM_001368250:exon11:c.C1073T:p.T358M,PRODH:NM_016335:exon11:c.C1397T:p.T466M	.	0	1498	23	1	0	25	0.00827541	.	.	YES	19052	Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.0026	.	0.0057	0.0030	0.0035	0.0201	0.0026	0.0032	0.0055	0.0122	0.0050646	783	154602	rs2870984	0.0048	0.0037	0.0047	0.0049	0.0173	0.0046	0.0045	0.0160	0.0154	0.0023	0.0038	0.0106	0.0173	0.0007	0.0079	0.0020	0.0052	0.0058	0.0037	0.0045	0.0035	0.0040	0.0143	0.0031	0.0029	0.0080	0.0062	0.0036	0	0.0038	0.0133	0.0109	0.0014	0.0102	0.0019	0.0026	0.0143	0.01	0.56456	D	0.017	0.60337	D	0.853	0.47048	P	0.352	0.42883	B	0.000032	0.55875	D	0.157576	0.967669	0.38609	A	.	.	.	1.51	0.30937	T	-3.45	0.68764	D	0.449	0.49783	-0.7207	0.59429	T	0.116	0.40942	T	10	0.011515439	0.00251	T	.	.	.	0.161	0.41658	.	.	0.0401082797425	0.02173	0.6173264318784245	0.61664	0.385115291346	0.39804	0.508698225021	0.40040	T	0.353269	0.72058	T	-0.401173	0.02275	T	-0.334754	0.40938	T	0.0778350368241577	0.09707	T	0.952705	0.81989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32874	B	.;.;.;.	.;.;.;.	4.926528	0.81191	27.5	0.99892332221749813	0.96589	0.89442	0.49909	D	AEFDBI	0.758511	0.69713	D	0.467202557692036	0.65185	4.790913	0.42067817372036	0.62853	4.50817	0.926051994528804	0.26837	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.21	3.1	0.34780	4.616000	0.60900	6.448000	0.55667	0.303000	0.18983	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:0.0:0.8108:0.1892	10.854	0.45998	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012639	0.005051	0.012228	0.005882	0.050000	0.034483	0.015528	0.003817	0.05263	1548.83	33	chr22	18918346	.	G	A	1548.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=864;ExcessHet=0.119;FS=5.511;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=-4.343;QD=8.56;ReadPosRankSum=0.943;SOR=1.1	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.02632	894.33	64	chr22	18922842	.	G	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.95;DP=1055;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.643;SOR=0.415	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	18	0	1	0
chr22	18925164	18925164	C	T	exonic	LOC102724788;PRODH	.	stopgain	PRODH:NM_001195226:exon4:c.G230A:p.W77X,LOC102724788:NM_001368249:exon4:c.G554A:p.W185X,LOC102724788:NM_001368250:exon4:c.G230A:p.W77X,PRODH:NM_016335:exon4:c.G554A:p.W185X	.	0	1384	130	8	0	146	0.050103	.	.	.	469889	Schizophrenia_4|Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0583	0.0563099	0.0400	0.1047	0.0288	0.0276	0.0293	0.0383	0.0453	0.0242	0.0379426	5866	154602	rs11913840	3.785e-05	0.0004	0	6.825e-05	7.066e-05	0	0	.	.	0	0	0	0	0	0	7.066e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094139	0.20188	N	0.520350	1.46935e-18	0.81001	P	.	.	.	.	.	.	.	.	.	0.579	0.60749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239079	0.15466	T	-0.0293432	0.68412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	3.880428	0.56390	23.7	0.88814784672952418	0.18278	0.05045	0.10832	N	AEFDBI	0.367121	0.45469	N	-0.29800949331419	0.29226	1.618826	-0.742117687753555	0.15916	0.8394609	0.999810399753712	0.43459	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	-6.11	0.01950	-0.056000	0.11744	-3.174000	0.02998	0.525000	0.24333	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.1017:0.1914:0.564:0.1429	6.835	0.23113	929	0.16858	.;.;.;.;.	.	.	.	.	rs11913840	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.109768	0.287879	0.143052	0.090643	0.050000	0.068966	0.048780	0.034091	0.02632	1539.33	33	chr22	18925164	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=750;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=2.13;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,114,1710:.	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,143:236:99:.:.:3542,0,2257:.	2	12	5	0
chr22	18925695	18925695	A	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon3:c.T186A:p.D62E,LOC102724788:NM_001368249:exon3:c.T510A:p.D170E,LOC102724788:NM_001368250:exon3:c.T186A:p.D62E,PRODH:NM_016335:exon3:c.T510A:p.D170E	.	0	1515	7	0	0	7	0.00230491	.	.	.	1931630	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.0357161487863	.	0.000199681	0.0002	0	0	0.0028	0	6.099e-05	0	6.068e-05	0.000194	30	154602	rs200757095	0.0008	0.0005	0.0007	0.0008	0.0077	0.0006	0.0005	0.0055	0.0047	0	0	0	0.0077	0	0	5.075e-05	0.0004	0.0002	0	9.41e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.727	0.04328	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.011332	0.29573	N	0.341756	0.989119	0.24334	N	.	.	.	-0.89	0.74793	T	-0.43	0.14390	N	0.12	0.11054	-1.0203	0.23616	T	0.041	0.17573	T	10	0.005792469	0.00129	T	0.035716	0.56527	D	0.116	0.32463	0.204	0.11936	0.0482279557977	0.04254	0.22415713213029392	0.22330	0.257885109181	0.28347	0.399265885353	0.24966	T	0.002533	0.01924	T	-0.515966	0.00464	T	-0.516977	0.20600	T	0.00873522245440298	0.00107	T	0.390061	0.12012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14247	B	.;.;.;.;.	.;.;.;.;.	-0.946092	0.00851	0.030	0.85701183413282767	0.16058	0.11132	0.16429	N	AEFDBI	0.231706	0.35489	N	-0.800026563633427	0.13309	0.6547615	-0.853719390343438	0.13198	0.683372	0.99956867451738	0.40425	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	4.79	-3.18	0.04867	-1.704000	0.01999	-2.473000	0.03711	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.524000	0.29567	0.3109:0.3019:0.2626:0.1246	1.448	0.02224	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1263.33	38	chr22	18925695	.	A	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.715;SOR=0.618	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr22	18936116	18936116	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	LOC102724788:NM_001368249:exon1:c.G172A:p.A58T,PRODH:NM_016335:exon1:c.G172A:p.A58T	.	24	1429	63	6	0	75	0.0255711	.	.	.	470907	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0178	0.0297524	0.0113	0.0437	0.0270	0	.	0.0276	0.0521	0.0047	0.0057955	896	154602	rs146648839	.	0.0005	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.004238	0.33968	N	0.182978	0.998905	0.58761	P	.	.	.	1.87	0.24085	T	0.13	0.05503	N	0.017	0.00226	-1.0297	0.20551	T	0.000	0.00152	T	9	0.0018523335	0.00025	T	.	.	.	0.015	0.02232	.	.	.	.	0.19949824960512247	0.19866	0.267482903043	0.29292	0.879037797451	0.93830	D	0.001812	0.01233	T	-0.760368	0.00015	T	-0.81943	0.01464	T	0.00535536718093038	0.00058	T	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-0.781814	0.01143	0.053	0.96452116232186036	0.29869	0.03046	0.07940	N	AEFDBHCI	0.057252	0.10648	N	-1.61886401112635	0.01173	0.05099661	-1.5572768422115	0.01926	0.08788814	0.999999863836608	0.74766	0.441713	0.08003	0	0.514364	0.08380	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.4	-4.35	0.03402	-1.259000	0.02970	-4.364000	0.02195	-0.634000	0.04471	0.058000	0.21700	0.000000	0.08366	0.092000	0.17891	0.3523:0.232:0.0:0.4157	2.731	0.04906	929	0.16858	.;.	.	.	.	.	rs146648839	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.080038	0.218310	0.143357	0.026786	0.000000	0.050000	0.033333	0.007042	0.02632	653.33	41	chr22	18936116	.	C	T	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=751;ExcessHet=0;FS=7.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.269;SOR=0.133	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	18	0	1	0
chr22	19041845	19041845	C	T	exonic	DGCR2	.	nonsynonymous SNV	DGCR2:NM_001173533:exon7:c.G998A:p.R333Q,DGCR2:NM_001173534:exon7:c.G989A:p.R330Q,DGCR2:NM_001184781:exon8:c.G1112A:p.R371Q,DGCR2:NM_005137:exon8:c.G1121A:p.R374Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.320599342697	.	.	3.332e-05	9.709e-05	0	0.0001	0	3.036e-05	0	0	3.23e-05	5	154602	rs771135830	2.122e-05	2.121e-05	1.635e-05	2.615e-05	2.248e-05	1.521e-05	1.325e-05	1.543e-05	1.304e-05	0	0	0	0	9.397e-05	0	2.248e-05	0	1.16e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	1.47e-05	0	0	0.017	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.03	0.98648	T	-1.76	0.43717	N	0.879	0.87699	1.114	0.99886	D	0.967	0.98955	D	10	0.7900474	0.78581	D	0.320599	0.91462	D	0.631	0.85821	0.269	0.21735	0.992657343436	0.99257	0.7031652419751155	0.70257	1.00905915386	0.74685	0.823499083519	0.85565	D	0.075488	0.74316	T	0.219198	0.75698	D	0.258614	0.86027	D	0.519412815570831	0.33344	D	0.987501	0.95747	D	0.443217	0.63609	0.24390979	0.49845	0.443217	0.63610	0.24390979	0.49844	-9.671	0.76374	D	.	.	0.352	0.56677	A	.;.;.	.;.;.	5.401298	0.90451	31	0.99954400101562402	0.99963	0.98532	0.83788	D	AEFDBI	0.901588	0.84846	D	0.853394308365528	0.89302	9.915741	0.838459240472522	0.92325	11.36132	0.999999999994358	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	7.801000	0.84525	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.966000	0.53164	0.0:1.0:0.0:0.0	19.352	0.94383	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	34	chr22	19041845	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=737;ExcessHet=0;FS=4.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.679;SOR=0.369	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr22	19089457	19089457	C	T	exonic	DGCR2	.	nonsynonymous SNV	DGCR2:NM_001184781:exon2:c.G113A:p.R38H,DGCR2:NM_005137:exon2:c.G113A:p.R38H	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.118832899363	0.0005	0.000399361	0.0003	0.0004	8.666e-05	0	0	0.0005	0.0011	6.641e-05	0.0002717	42	154602	rs151289611	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0101	0	0	0.0003	4.43e-05	0.0008	0	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	0.0006	0	0.0008	0.0081	0	0	0	7.35e-05	0.0005	0	0.167	0.23095	T	0.181	0.29346	T	0.003	0.11197	B	0.006	0.12133	B	0.000128	0.49741	N	0.214512	0.993485	0.81001	D	1.275	0.32135	L	-3.74	0.95493	D	-0.68	0.19509	N	0.333	0.37405	-0.2575	0.76156	T	0.638	0.87325	D	10	0.015501648	0.00325	T	0.118833	0.79898	D	0.250	0.55888	.	.	0.833201615553	0.83161	0.5997364003667172	0.59904	0.332112332623	0.35272	0.404161542654	0.25648	T	0.225783	0.59061	T	-0.225866	0.17200	T	-0.164693	0.57928	T	0.0134255258079307	0.00244	T	0.691931	0.30130	T	0.013288761	0.00054	0.027413907	0.00892	0.013288761	0.00054	0.027413907	0.00892	-4.091	0.25157	T	.	.	0.070	0.03552	B	.;.	.;.	2.483042	0.32020	18.92	0.86628803148536659	0.16665	0.82346	0.41587	D	AEFDBHI	0.182241	0.30957	N	-0.804571236800262	0.13193	0.6482315	-0.676183111214562	0.17557	0.9340725	0.997776307168535	0.36014	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.82	1.61	0.22752	3.185000	0.50635	1.319000	0.25590	-0.781000	0.03322	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:0.6383:0.0:0.3617	7.356	0.25894	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1095.33	34	chr22	19089457	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=788;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.246;SOR=0.4	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	18	0	1	0
chr22	19178310	19178310	C	G	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_001256534:exon1:c.G46C:p.G16R	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	424	1056	41	1	0	43	0.0199536	.	.	.	378568	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0070	0	0.0075	0	0	0.0203	0.0085	0.0022	0.0010479	162	154602	rs558632091	0.0025	0.0024	0.0025	0.0026	0.0305	0.0025	0.0024	0.0266	0.0250	0.0010	0.0019	0.0255	5.875e-05	6.322e-05	0.0305	0.0020	0.0047	0.0034	0.0025	0.0025	0.0025	0.0025	0.0039	0.0023	0.0022	0.0026	0.0021	0.0006	0.0197	0.0023	0.0245	0.0004	9.446e-05	0.0411	0.0025	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	1231.83	35	chr22	19178310	.	C	G	1231.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=642;ExcessHet=0.119;FS=1.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.464;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	17	0	2	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07895	4732.79	34	chr22	19180775	.	C	T	4732.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.822;DP=951;ExcessHet=0.3672;FS=11.777;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.24;SOR=0.623	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	16	0	3	0
chr22	19183561	19183561	-	T	exonic	CLTCL1	.	frameshift insertion	CLTCL1:NM_001835:exon29:c.4484dupA:p.L1496Vfs*23,CLTCL1:NM_007098:exon30:c.4655dupA:p.L1553Vfs*23	.	411	1109	2	0	0	2	0.000900901	.	.	.	729009	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0005	0.0004	0.0010	0	0	0.0006	0.0034	0	0.0004398	68	154602	rs375471950	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	0.0004	0.0009	0.0022	0	1.881e-05	0.0033	0.0003	0.0009	0	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0008	0.0007	0.0003	0	0.0012	0.0014	0	0	0.0068	0.0004	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005539	0.025253	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2134.29	186	chr22	19183561	.	C	CT	2134.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=851;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.212;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr22	19199816	19199816	T	C	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon24:c.A3791G:p.Q1264R,CLTCL1:NM_007098:exon24:c.A3791G:p.Q1264R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00222175952306	0.0002	.	9.791e-05	0.0002	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367793842	2.424e-05	2.531e-05	2.336e-05	2.513e-05	0.0003	1.76e-05	1.558e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.356e-05	5.013e-05	4.841e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.089	0.32141	T	0.165	0.31026	T	0.0	0.02946	B	0.001	0.11217	B	0.000970	0.40836	D	0.187714	0.997783	0.22508	N	0.395	0.12235	N	2.12	0.19726	T	-0.18	0.09796	N	0.211	0.24758	-1.0423	0.16621	T	0.026	0.11131	T	10	0.11344987	0.21313	T	0.002222	0.04206	T	0.032	0.07718	.	.	0.300110245524	0.29617	0.15782156336329756	0.15703	.	.	0.308885157108	0.11739	T	0.031146	0.21906	T	-0.370961	0.03545	T	-0.620343	0.11158	T	0.0669005115026013	0.08209	T	0.805019	0.45619	T	0.0387843	0.05234	0.048736688	0.07301	0.0387843	0.05234	0.048736688	0.07300	-3.667	0.29037	T	0.09426400578020667	0.06290	0.064	0.02458	B	.;.;.;.	.;.;.;.	1.426358	0.18436	13.74	0.97623718490452205	0.34977	0.89192	0.49510	D	AEFBI	0.065904	0.12879	N	-0.476707977124177	0.22846	1.22273	-0.355865444804522	0.26328	1.453505	0.979898118320734	0.30076	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.85	3.85	0.43556	2.269000	0.43005	1.374000	0.25980	0.609000	0.47794	0.996000	0.39380	0.038000	0.21505	0.078000	0.17132	0.0:0.0928:0.1703:0.7368	5.693	0.17110	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	35	chr22	19199816	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.075;DP=722;ExcessHet=0;FS=6.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=2.06;SOR=1.187	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,107,1800	18	0	1	0
chr22	19233448	19233448	G	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon8:c.C1342A:p.L448I,CLTCL1:NM_007098:exon8:c.C1342A:p.L448I	.	423	1094	5	0	0	5	0.00227998	.	.	.	3204498	CLTCL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.085	.	8.2e-05	0.0105831	0.0037	0.0001	0.0004	0.0463	0	9.202e-05	0.0046	0.0026	0.003467	536	154602	rs76099251	0.0016	0.0016	0.0015	0.0017	0.0488	0.0016	0.0016	0.0469	0.0462	0	0.0003	3.829e-05	0.0488	1.873e-05	0.0007	7.646e-05	0.0019	0.0028	0.0015	0.0015	0.0011	0.0019	0.0382	0.0013	0.0013	0.0338	0.0321	2.406e-05	0	0.0003	0	0.0382	0	0	7.351e-05	0	0.0037	0.116	0.28395	T	0.125	0.35330	T	0.049	0.36353	B	0.209	0.42432	B	0.001298	0.39521	N	0.105052	0.994216	0.42201	D	1.335	0.33326	L	1.77	0.25841	T	-1.52	0.36980	N	0.425	0.48504	-1.0930	0.05051	T	0.009	0.03359	T	10	0.0054974854	0.00121	T	.	.	.	0.085	0.24743	.	.	0.144782658237	0.14088	0.3090783093455225	0.30820	.	.	0.559965252876	0.47263	T	0.139469	0.47351	T	-0.522762	0.00424	T	-0.490831	0.23304	T	0.0281746306648205	0.01713	T	0.966003	0.87497	D	0.083781205	0.19362	0.08073625	0.18288	0.08610936	0.20001	0.08824614	0.20562	-8.797	0.66381	D	0.13163972266992344	0.13963	0.131	0.28290	B	.;.	.;.	2.030939	0.25809	16.90	0.97712324781495252	0.35501	0.79121	0.39147	D	AEFDBHI	0.281120	0.39478	N	-0.474931153447133	0.22904	1.226263	-0.453391340475146	0.23453	1.279074	0.999966971904649	0.48965	0.562547	0.31514	0	0.563428	0.19063	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.83	-1.21	0.09033	2.760000	0.47262	1.905000	0.29608	-0.272000	0.06708	1.000000	0.71638	0.882000	0.27718	0.977000	0.56843	0.4074:0.0:0.4284:0.1641	4.317	0.10440	763	0.50172	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.02632	2447.33	39	chr22	19233448	.	G	T	2447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=876;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.455;SOR=0.527	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.02632	1608.33	34	chr22	19275743	.	C	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=738;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.649;SOR=0.676	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr22	19435783	19435783	G	A	exonic	MRPL40	.	nonsynonymous SNV	MRPL40:NM_001318152:exon3:c.G310A:p.E104K,MRPL40:NM_001318151:exon4:c.G310A:p.E104K,MRPL40:NM_003776:exon4:c.G442A:p.E148K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00858920638093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.313	0.19539	T	0.007	0.14184	B	0.021	0.19346	B	0.815202	0.06851	N	1.079380	1	0.08975	N	1.1	0.28011	L	0.86	0.46777	T	-0.87	0.23590	N	0.166	0.17553	-1.0057	0.28247	T	0.083	0.32642	T	10	0.054730088	0.05873	T	0.008589	0.22705	T	0.041	0.10877	0.617	0.75116	0.194818534648	0.19098	0.3664042201280029	0.36554	0.092537156171	0.10449	0.244508743286	0.03211	T	0.003834	0.03242	T	-0.199245	0.20915	T	-0.523978	0.19892	T	0.0170061844989956	0.00449	T	0.849515	0.53247	T	0.046744958	0.07874	0.05455487	0.09404	0.046744958	0.07874	0.05455487	0.09404	-3.194	0.12407	T	.	.	0.058	0.00647	B	.	.	0.727025	0.10963	7.626	0.59661392279079284	0.06277	0.12573	0.17351	N	AEFDBCI	0.226502	0.35044	N	-1.29845882271096	0.03695	0.1654994	-1.33605553545848	0.03972	0.1864408	0.999850189095127	0.44174	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.35	-3.0	0.05148	0.498000	0.22238	0.953000	0.22937	-0.227000	0.07798	0.012000	0.18695	0.946000	0.28899	0.282000	0.24066	0.1748:0.3702:0.3856:0.0693	6.166	0.19606	518	0.74548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2237.33	40	chr22	19435783	.	G	A	2237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-2.413;SOR=0.724	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	0	1	0
chr22	19720192	19720192	A	G	exonic	SEPTIN5	.	nonsynonymous SNV	SEPTIN5:NM_001009939:exon4:c.A343G:p.I115V,SEPTIN5:NM_002688:exon5:c.A316G:p.I106V	.	.	.	.	.	.	.	.	.	.	.	3317721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.0129220197063	.	.	8.337e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs750343029	6.843e-06	6.84e-06	5.447e-06	8.254e-06	2.319e-05	3.46e-06	2.52e-06	3.85e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	2.319e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	6.541e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.541e-05	0	0	0	0	5.88e-05	0	0	1.0	0.03134	T	1.0	0.01155	T	0.008	0.14655	B	0.16	0.34752	B	0.000000	0.84330	D	0.000000	0.999783	0.49076	D	-0.24	0.03895	N	1.07	0.39586	T	-0.17	0.09627	N	0.312	0.50146	-1.0565	0.12646	T	0.051	0.21728	T	10	0.1095252	0.20436	T	0.012922	0.31907	T	0.085	0.24743	0.55	0.66576	0.231005064126	0.22704	0.7490127476538082	0.74847	0.955832151625	0.72811	.	.	.	0.127106	0.45391	T	-0.250687	0.14014	T	-0.501017	0.22241	T	0.238294959068298	0.22340	T	0.873313	0.58144	D	0.04149321	0.06119	0.05155008	0.08318	0.04149321	0.06119	0.05155008	0.08317	-6.685	0.51697	T	.	.	0.077	0.19032	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.815054	0.55051	23.6	0.81826341969572403	0.13879	0.87808	0.47475	D	AEFDGBHCI	0.442664	0.50030	N	-0.581072146420121	0.19519	1.022257	-0.405736578985348	0.24828	1.361828	0.999999994649114	0.74766	0.706548	0.73137	0	0.0	0.00010	3	0.493711	0.08198	1	0.714379	0.83352	0	.	.	3.89	2.85	0.32333	4.109000	0.57562	9.295000	0.79825	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.9124:0.0:0.0876:0.0	9.243	0.36670	958	0.09170	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1948.33	35	chr22	19720192	.	A	G	1948.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.726;SOR=0.708	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	18	0	1	0
chr22	19723962	19723962	G	A	exonic	GP1BB	.	nonsynonymous SNV	GP1BB:NM_000407:exon2:c.G119A:p.G40E	Bernard-Soulier syndrome, type B, Autosomal recessive;Giant platelet disorder, isolated, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	YES	742751	not_provided|Bernard_Soulier_syndrome	MedGen:C3661900|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.555	0.989467175999	0.0004	0.000998403	0.0022	0.0039	0	0	0	0.0044	0	0.0013	0.0005951	92	154602	rs375285857	0.0016	0.0016	0.0016	0.0016	0.0023	0.0016	0.0015	0.0019	0.0018	0.0004	0.0023	0.0014	0	0.0009	0.0010	0.0017	0.0018	0.0010	0.0012	0.0012	0.0013	0.0010	0.0033	0.0010	0.0010	0.0026	0.0023	0.0003	0	0.0033	0.0020	0	0.0005	0.0068	0.0013	0.0024	0.0008	0.105	0.29823	T	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.314817	0.14371	U	0.454177	0.888607	0.27923	N	0.455	0.12820	N	-3.89	0.95984	D	0.17	0.05125	N	0.5	0.53269	0.222	0.86285	D	0.804	0.93369	D	10	0.054804713	0.05891	T	0.989467	0.99959	D	0.555	0.81659	.	.	0.998052704413	0.99803	0.5365707997938641	0.53582	1.96447962958	0.93503	.	.	.	0.257048	0.62803	T	-0.107971	0.35104	T	0.0662728	0.74661	D	0.0263467194827876	0.01452	T	0.878412	0.59357	D	0.19985515	0.41940	0.12158109	0.29335	0.31358474	0.54094	0.10072536	0.24092	-7.64	0.58589	D	0.101273139929451	0.07566	0.593	0.68586	P	.	.	3.710593	0.52968	23.3	0.97049320917516013	0.32146	0.89176	0.49484	D	AEFDBHCIJ	0.270702	0.38671	N	0.140460599603763	0.48361	3.049309	0.102157895741576	0.44660	2.743357	0.999999999875103	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.84	3.84	0.43422	0.521000	0.22601	4.125000	0.41997	0.586000	0.30580	0.044000	0.21163	1.000000	0.68203	0.643000	0.32503	0.0:0.1875:0.6195:0.193	7.041	0.24202	957	0.09725	Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002240	0.000000	0.001445	0.003731	0.000000	0.000000	0.003401	0.000000	0.02632	867.33	36	chr22	19723962	.	G	A	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.876;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	18	0	1	0
chr22	19761000	19761002	CCG	-	exonic	TBX1	.	nonframeshift deletion	TBX1:NM_001379200:exon1:c.157_159del:p.P57del,TBX1:NM_005992:exon3:c.130_132del:p.P48del,TBX1:NM_080646:exon3:c.130_132del:p.P48del,TBX1:NM_080647:exon3:c.130_132del:p.P48del	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3485742	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369946501	0.0015	0.0040	0.0015	0.0015	0.0033	0.0014	0.0014	0.0014	0.0014	0.0018	0.0033	0.0029	0.0018	0	0.0019	0.0015	0.0014	0.0018	0	3.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	44.57	2	chr22	19760999	.	CCCG	C	44.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.549;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=-0.0591;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=-0.812;SOR=0.527	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,131	16	0	1	2
chr22	19981659	19981659	C	T	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon5:c.G448A:p.D150N	.	0	1515	6	1	0	8	0.00263331	.	.	.	705796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0554822448255	0.0030	0.00139776	0.0027	0.0008	0.0013	0	0.0009	0.0045	0	0	0.002652	410	154602	rs113625788	0.0038	0.0038	0.0038	0.0037	0.0046	0.0037	0.0037	0.0045	0.0044	0.0004	0.0014	0.0002	0	0.0021	0.0003	0.0046	0.0033	0.0002	0.0020	0.0020	0.0024	0.0016	0.0036	0.0018	0.0018	0.0033	0.0031	0.0006	0	0.0014	0.0003	0	0.0012	0	0.0036	0.0019	0	0.007	0.61437	D	0.337	0.46862	T	0.982	0.60036	D	0.612	0.51145	P	0.260759	0.15320	N	0.613774	0.999985	0.54805	D	1.28	0.32218	L	1.53	0.30401	T	-1.47	0.35991	N	0.355	0.41754	-0.9901	0.32576	T	0.117	0.41209	T	9	0.007997036	0.00181	T	0.055482	0.66251	D	0.079	0.23065	.	.	0.461323234107	0.45759	0.48425235387603527	0.48345	0.296881417285	0.32077	0.589972674847	0.51490	T	0.040296	0.25480	T	-0.41473	0.01850	T	-0.367554	0.37174	T	0.0378085976459041	0.03299	T	0.982402	0.94177	D	0.14900807	0.33991	0.0911852	0.21425	0.14900807	0.33991	0.0911852	0.21424	-7.086	0.54659	T	.	.	0.130	0.39099	B	.;.;.;.	.;.;.;.	5.237874	0.87926	29.4	0.99893275220940592	0.96666	0.98331	0.81705	D	AEFBI	0.890702	0.82599	D	0.543836192081339	0.69708	5.39544	0.549411392286044	0.71357	5.642444	0.999999999999977	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.43	4.43	0.52967	7.473000	0.80010	7.661000	0.64234	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.601	0.87926	754	0.51307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1882.33	141	chr22	19981659	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=855;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.815;SOR=0.82	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr22	20036847	20036847	G	A	exonic	TANGO2	.	nonsynonymous SNV	TANGO2:NM_001283116:exon2:c.G49A:p.A17T,TANGO2:NM_001283148:exon2:c.G49A:p.A17T,TANGO2:NM_001283154:exon2:c.G49A:p.A17T,TANGO2:NM_001283179:exon2:c.G49A:p.A17T,TANGO2:NM_001283186:exon2:c.G49A:p.A17T,TANGO2:NM_001283199:exon2:c.G49A:p.A17T,TANGO2:NM_001283248:exon2:c.G49A:p.A17T,TANGO2:NM_001322142:exon2:c.G49A:p.A17T,TANGO2:NM_001322166:exon2:c.G49A:p.A17T,TANGO2:NM_001322167:exon2:c.G49A:p.A17T,TANGO2:NM_001322169:exon2:c.G49A:p.A17T,TANGO2:NM_152906:exon2:c.G49A:p.A17T,TANGO2:NM_001283106:exon3:c.G49A:p.A17T,TANGO2:NM_001322163:exon3:c.G49A:p.A17T	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	2048917	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0294850434489	0.0002	.	3.295e-05	0.0002	0	0	0	1.499e-05	0.0011	0	3.23e-05	5	154602	rs142149828	1.573e-05	1.573e-05	1.497e-05	1.65e-05	8.961e-05	1.048e-05	8.75e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.619e-05	1.656e-05	1.159e-05	3.286e-05	3.284e-05	5.138e-05	1.346e-05	4.827e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.827e-05	0	0	0	0	0	0	4.41e-05	0	0	0.181	0.26965	T	0.559	0.09965	T	0.001	0.22573	B	0.002	0.18140	B	0.000002	0.62929	N	0.057777	0.99982	0.81001	D	2.15	0.60148	M	1.95	0.22474	T	-0.99	0.37759	N	0.455	0.50778	-1.0631	0.10997	T	0.049	0.20711	T	10	0.21325254	0.37810	T	0.029485	0.51987	D	0.128	0.35103	.	.	0.115124310173	0.11017	.	.	0.453934619371	0.45076	0.656430125237	0.60899	T	0.017376	0.20428	T	-0.278255	0.10853	T	-0.400802	0.33291	T	0.10509101144335	0.12907	T	0.792521	0.49576	T	0.16360566	0.36513	0.15990649	0.37271	0.16360566	0.36513	0.15990649	0.37270	-9.566	0.76899	D	0.3515679160744818	0.44872	0.114	0.49470	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.056176	0.60165	24.2	0.95298210946167328	0.26614	0.87079	0.46512	D	AEFDBCI	0.614321	0.60168	D	-0.343697637985094	0.27504	1.509572	-0.310442015852798	0.27759	1.542716	0.99999958193474	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.14	3.12	0.34986	5.329000	0.65670	9.600000	0.81064	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.099:0.0:0.901:0.0	10.610	0.44603	739	0.53257	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2642.33	40	chr22	20036847	.	G	A	2642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=871;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.613;SOR=0.964	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	18	0	1	0
chr22	20086252	20086252	C	T	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon2:c.C289T:p.R97C,DGCR8:NM_022720:exon2:c.C289T:p.R97C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.068722094522	.	.	8.247e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs778992846	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.719	0.65306	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.85	0.51228	T	-1.33	0.95897	N	0.857	0.85872	-0.8402	0.52633	T	0.176	0.52084	T	10	0.6164012	0.67730	D	0.068722	0.70530	D	0.344	0.66582	0.555	0.67271	0.690262308853	0.68760	0.4446248113333851	0.44380	1.61877923899	0.89039	0.676112413406	0.63712	T	0.193173	0.54856	T	0.130568	0.67417	D	0.118903	0.78162	D	0.787139926761829	0.45503	D	0.974003	0.90706	D	0.6424117	0.74960	0.23877509	0.49209	0.6424117	0.74961	0.23877509	0.49208	-4.565	0.32297	T	.	.	0.396	0.59375	A	.;.;.;.	.;.;.;.	5.982276	0.94255	34	0.99924056259998084	0.98980	0.89232	0.49573	D	AEFGBCI	.	.	.	0.55579011300668	0.70435	5.501161	0.587924714411306	0.74074	6.075428	0.999999996283812	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.42	4.36	0.51643	5.019000	0.63828	6.081000	0.53348	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.3322:0.6678:0.0:0.0	11.268	0.48355	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3557.33	37	chr22	20086252	.	C	T	3557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.989;DP=908;ExcessHet=0;FS=8.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.861;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	18	0	1	0
chr22	20087262	20087262	C	T	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon3:c.C821T:p.P274L,DGCR8:NM_022720:exon3:c.C821T:p.P274L	.	412	1108	2	0	0	2	0.000901713	.	.	.	3246820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00660328519709	.	.	9.908e-05	9.612e-05	0.0005	0	0	7.503e-05	0	0	7.76e-05	12	154602	rs765820841	3.352e-05	3.42e-05	2.995e-05	3.713e-05	0.0004	2.566e-05	2.312e-05	0.0002	0.0002	0.0004	0.0003	0	2.521e-05	0	0	8.994e-06	0.0001	3.479e-05	7.228e-05	7.224e-05	5.139e-05	9.414e-05	0.0002	3.971e-05	3.127e-05	0.0001	8.454e-05	0.0002	0	0	0	0	0	0	0	0.0010	0	0.15	0.24661	T	0.673	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.000721	0.42254	D	0.274240	0.998111	0.44524	D	-0.55	0.02420	N	1.51	0.30937	T	-1.13	0.29114	N	0.156	0.20925	-1.0460	0.15534	T	0.022	0.09421	T	10	0.037407935	0.02093	T	0.006603	0.17415	T	0.079	0.23065	0.095	0.01241	0.151262610727	0.14761	0.20518093583157893	0.20435	0.488518040385	0.47651	0.550802707672	0.45970	T	0.106923	0.41869	T	-0.486049	0.00683	T	-0.629975	0.10417	T	0.0359371365457486	0.02969	T	0.805919	0.45429	T	0.029739643	0.02519	0.040025167	0.04233	0.029739643	0.02518	0.040025167	0.04233	-3.244	0.13026	T	.	.	0.055	0.05317	B	.;.;.	.;.;.	2.925038	0.38847	20.8	0.90378648147701268	0.19641	0.65913	0.32898	D	AEFGBHCI	0.099051	0.19948	N	-0.547713993505137	0.20555	1.084461	-0.345468879461293	0.26650	1.47336	0.999999345647792	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	2.41	0.28644	2.254000	0.42868	2.232000	0.31540	0.599000	0.40250	0.700000	0.28626	0.981000	0.30433	0.766000	0.36367	0.2788:0.4238:0.1241:0.1733	1.501	0.02327	535	0.73288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2440.33	34	chr22	20087262	.	C	T	2440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.279;SOR=0.718	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr22	20094770	20094770	A	G	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon8:c.A1664G:p.K555R,DGCR8:NM_022720:exon9:c.A1763G:p.K588R	.	410	1080	30	2	0	34	0.0154968	.	.	.	2821944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.157	0.0256118393623	0.0070	0.00339457	0.0060	0.0013	0.0033	0	0.0041	0.0083	0.0077	0.0058	0.0059702	923	154602	rs35569747	0.0074	0.0074	0.0073	0.0075	0.0154	0.0073	0.0072	0.0129	0.0119	0.0009	0.0047	0.0144	2.519e-05	0.0037	0.0154	0.0079	0.0084	0.0069	0.0054	0.0054	0.0059	0.0048	0.0078	0.0051	0.0050	0.0069	0.0067	0.0013	0.0066	0.0078	0.0115	0.0002	0.0046	0.0170	0.0074	0.0104	0.0035	0.13	0.31987	T	0.18	0.29442	T	0.985	0.68779	D	0.637	0.78936	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	1.4	0.33630	T	-0.7	0.21215	N	0.426	0.47301	-0.9752	0.36082	T	0.130	0.44028	T	10	0.0076841116	0.00175	T	0.025612	0.48570	D	0.157	0.40909	.	.	0.389984549148	0.38611	0.4073866396673601	0.40654	1.8671837485	0.92471	0.765044927597	0.76682	T	0.182182	0.53411	T	-0.393458	0.02555	T	-0.332684	0.41169	T	0.0218102442706932	0.00888	T	0.943306	0.78595	D	0.14382163	0.33039	0.18520966	0.41620	0.14382163	0.33039	0.18520966	0.41619	-5.532	0.42166	T	.	.	0.117	0.23570	B	.;.;.	.;.;.	4.787177	0.77651	26.7	0.99878657614916455	0.95491	0.98176	0.80261	D	AEFBHCI	0.894824	0.83422	D	0.645528606152984	0.76081	6.42092	0.690430907318687	0.81653	7.576989	0.999999999999967	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.941000	0.92488	11.286000	0.91899	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.836	0.78574	538	0.73119	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.015152	0.013587	0.023392	0.000000	0.000000	0.006098	0.011364	0.05263	1235.83	63	chr22	20094770	.	A	G	1235.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.909;DP=697;ExcessHet=0.119;FS=1.517;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.8;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	17	0	2	0
chr22	20150198	20150198	C	T	exonic	CCDC188	.	nonsynonymous SNV	CCDC188:NM_001365892:exon2:c.G572A:p.G191E	.	414	1097	10	1	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00159744	0.0011	0	0	0	0	0.0025	0.0066	0.0004	0.0002199	34	154602	rs191736748	0.0006	0.0006	0.0006	0.0006	0.0037	0.0006	0.0006	0.0025	0.0021	9.501e-05	0.0008	0.0050	0	0	0.0037	0.0005	0.0009	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0004	0.0037	0	9.489e-05	0.0034	0.0007	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.40364	-0.9345	0.43470	T	0.060	0.25018	T	5	0.007802248	0.00177	T	.	.	.	.	.	.	.	0.270447802918	0.26645	0.1748343406523719	0.17402	.	.	.	.	.	0.119055	0.44032	T	-0.394972	0.02497	T	-0.428073	0.30153	T	0.0549845062196255	0.06354	T	0.562944	0.19809	T	0.09846028	0.23224	0.20199275	0.44206	0.09846028	0.23224	0.20199275	0.44205	-3.982	0.23533	T	.	.	0.327	0.55039	B	.	.	4.266667	0.64883	24.8	0.99718349505690695	0.81843	0.16819	0.19563	N	AEFDBCI	0.210961	0.33680	N	-0.119583706249933	0.36539	2.113507	-0.18910531417305	0.31936	1.812043	0.926200754932012	0.26843	0.646311	0.45356	0	0.588066	0.40923	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.47	3.47	0.38831	1.914000	0.39597	7.020000	0.57263	0.583000	0.30283	0.915000	0.31815	0.999000	0.35428	0.126000	0.19410	0.0:1.0:0.0:0.0	10.738	0.45334	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	484.33	45	chr22	20150198	.	C	T	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.962;DP=802;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=1.21;SOR=1.051	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	18	0	1	0
chr22	20241938	20241938	G	A	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.C1195T:p.R399W	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.167384117218	.	0.000199681	0.0003	0	0.0016	0	0	0.0002	0	0	0.0002523	39	154602	rs200119628	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0008	0.0007	0.0001	0.0011	0	0	0	0.0005	0.0003	0.0003	8.121e-05	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	0.0001	0	0.0009	0	0	0	0	0.0002	0.0005	0	0.01	0.56456	D	0.018	0.59732	D	0.989	0.62824	D	0.409	0.44752	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	0.03	0.62183	T	-2.49	0.54217	N	0.27	0.30574	-0.9697	0.37262	T	0.123	0.42610	T	9	0.037017405	0.02032	T	0.167384	0.84576	D	0.135	0.36572	.	.	0.549678390736	0.54624	0.16852078956611685	0.16772	0.721910596354	0.62253	0.587508916855	0.51143	T	0.220964	0.58440	T	-0.347733	0.04871	T	-0.317823	0.42812	T	0.103888616897245	0.12779	T	0.861414	0.55526	D	0.09818275	0.23154	0.106306	0.25570	0.095000185	0.22349	0.11981584	0.28917	-5.015	0.37002	T	.	.	0.077	0.06341	B	.	.	3.057855	0.41054	21.3	0.99751805747742206	0.84305	0.08919	0.14774	N	AEFDBCI	0.148943	0.27293	N	-0.624821356137566	0.18200	0.9430401	-0.769725206443093	0.15238	0.8004297	0.998381016576764	0.36869	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.26	-0.409	0.11761	0.227000	0.17575	1.192000	0.24773	0.618000	0.50648	0.473000	0.26745	0.029000	0.21193	0.090000	0.17789	0.0:0.0:0.4352:0.5648	8.906	0.34685	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2930.33	33	chr22	20241938	.	G	A	2930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.887;DP=858;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.613;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	18	0	1	0
chr22	20425413	20425413	C	G	exonic	SCARF2	.	nonsynonymous SNV	SCARF2:NM_153334:exon11:c.G2578C:p.A860P,SCARF2:NM_182895:exon11:c.G2563C:p.A855P	Van den Ende-Gupta syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.077699282921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.45530	T	.	.	.	.	.	.	0.000950	0.40932	U	0.096199	0.95703	0.26276	N	.	.	.	.	.	.	.	.	.	0.348	0.38950	-1.0829	0.06795	T	0.032	0.13854	T	10	0.17621931	0.32594	T	0.077699	0.72832	D	.	.	.	.	0.156986980423	0.15292	0.15910100263321458	0.15831	.	.	0.858976364136	0.90959	D	.	.	.	-0.0440095	0.45352	T	-0.300993	0.44621	T	0.670198917388916	0.39346	D	0.708829	0.31953	T	0.08012496	0.18344	0.14674436	0.34755	0.08012496	0.18344	0.14674436	0.34754	-3.319	0.14829	T	.	.	0.101	0.17700	B	.;.	.;.	2.652557	0.34540	19.66	0.99534457313765634	0.70087	0.30709	0.24152	N	AEFDBHI	0.120772	0.23510	N	-0.352770434450908	0.27171	1.488588	-0.364123416290488	0.26076	1.437993	0.999879846722447	0.44625	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.63	2.6	0.30173	0.747000	0.25956	2.351000	0.32314	-0.301000	0.06190	0.372000	0.25940	0.965000	0.29475	0.261000	0.23543	0.0:0.87:0.0:0.13	7.056	0.24276	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	233.33	21	chr22	20425413	.	C	G	233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=597;ExcessHet=0;FS=1.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-1.761;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:61:0,61,965	18	0	1	0
chr22	20779749	20779749	A	T	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.A437T:p.N146I	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	3226514	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.364	0.075291750618	.	0.000199681	0.0003	0	8.639e-05	0	0	0.0003	0.0011	0.0007	0.0002199	34	154602	rs202123183	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	0.0002	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	8.992e-05	2.405e-05	0	6.532e-05	0	0	0	0.0068	0.0002	0.0005	0.0006	0.005	0.63226	D	0.051	0.47828	T	0.033	0.20350	B	0.098	0.30479	B	0.831281	0.06943	N	1.070710	1	0.08975	N	2.645	0.77386	M	-2.37	0.88220	D	-4.2	0.75695	D	0.291	0.32921	-0.1947	0.77808	T	0.650	0.87808	D	10	0.118846685	0.22477	T	0.075292	0.72252	D	0.364	0.68407	.	.	0.725326469919	0.72289	0.5559638039926801	0.55523	0.279714035493	0.30458	0.261275947094	0.05043	T	0.73965	0.92778	D	-0.226175	0.17158	T	-0.201867	0.54470	T	0.123033718491691	0.14724	T	0.510849	0.16306	T	0.34378368	0.56579	0.33984292	0.59744	0.34081054	0.56344	0.29802918	0.55836	-6.816	0.52678	T	0.5866665607633216	0.65347	0.167	0.36850	B	.;.	.;.	0.562653	0.09313	6.093	0.92906638319264323	0.22463	0.21794	0.21526	N	AEFBCI	0.815301	0.73731	D	-1.07210388660278	0.07161	0.3318281	-1.23473058753536	0.05361	0.255236	0.999999998555097	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.591603	0.36755	0	.	.	5.59	-7.12	0.01384	0.819000	0.26965	-0.209000	0.10871	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.5312:0.082:0.3869:0.0	11.649	0.50537	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05263	5044.83	38	chr22	20779749	.	A	T	5044.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.09;DP=998;ExcessHet=0.119;FS=1.191;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.007;SOR=0.628	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1404	17	0	2	0
chr22	20976529	20976529	G	A	exonic	AIFM3	.	nonsynonymous SNV	AIFM3:NM_001018060:exon11:c.G1021A:p.G341S,AIFM3:NM_001146288:exon11:c.G1039A:p.G347S,AIFM3:NM_144704:exon11:c.G1021A:p.G341S	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0419417636169	0.0018	0.000399361	0.0018	0.0003	0.0019	0	0.0013	0.0027	0	0.0003	0.0016947	262	154602	rs140466618	0.0018	0.0018	0.0018	0.0017	0.0107	0.0017	0.0017	0.0086	0.0078	0.0004	0.0023	0.0088	0.0001	0.0013	0.0107	0.0017	0.0027	0.0005	0.0021	0.0021	0.0022	0.0020	0.0052	0.0019	0.0018	0.0042	0.0039	0.0003	0	0.0052	0.0115	0	0.0009	0.0238	0.0023	0.0043	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.035	0.20614	B	0.007	0.12992	B	0.000051	0.53742	D	0.128968	0.924949	0.36790	D	-0.965	0.01239	N	-1.71	0.83157	D	2.57	0.00217	N	0.403	0.46742	-0.7828	0.56144	T	0.172	0.51484	T	10	0.016161144	0.00340	T	0.041942	0.60201	D	0.297	0.61730	.	.	0.878934931939	0.87775	0.9259876992162601	0.92575	0.343672920833	0.36295	.	.	.	0.06706	0.33103	T	-0.333041	0.05884	T	-0.256714	0.49151	T	0.0109654386377297	0.00158	T	0.931507	0.77188	D	0.05989498	0.12228	0.083156005	0.19034	0.05989498	0.12228	0.083156005	0.19034	2.188	0.00043	T	.	.	0.084	0.14888	B	.;.;.;.	.;.;.;.	2.780189	0.36519	20.3	0.79921803699726912	0.12962	0.96005	0.67103	D	AEFGBI	0.843069	0.76012	D	-0.390227866624166	0.25816	1.40425	-0.181392470116568	0.32221	1.830995	0.989929584582022	0.31978	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	4.7	3.61	0.40494	6.229000	0.72245	8.480000	0.77297	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:0.0:0.6553:0.3447	9.408	0.37638	934	0.15400	FAD/NAD(P)-binding domain;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.000000	0.012262	0.014620	0.000000	0.017241	0.018293	0.007576	0.02632	2193.33	114	chr22	20976529	.	G	A	2193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=932;ExcessHet=0;FS=2.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.855;SOR=0.493	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	18	0	1	0
chr22	20976743	20976743	C	T	exonic	AIFM3	.	nonsynonymous SNV	AIFM3:NM_001018060:exon12:c.C1123T:p.R375C,AIFM3:NM_001146288:exon12:c.C1141T:p.R381C,AIFM3:NM_144704:exon12:c.C1123T:p.R375C	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	.	0.0062	0.00179712	0.0067	0.0018	0.0009	0	0.0030	0.0093	0.0114	0.0072	0.0055303	855	154602	rs139501949	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0015	0.0013	0.0026	2.529e-05	0.0023	0.0023	0.0096	0.0062	0.0074	0.0046	0.0046	0.0049	0.0042	0.0078	0.0043	0.0042	0.0073	0.0070	0.0015	0	0.0025	0.0049	0	0.0021	0	0.0078	0.0028	0.0039	0.021	0.55530	D	0.024	0.56640	D	0.995	0.67487	D	0.892	0.63276	P	0.000841	0.41547	D	0.201882	0.999981	0.54805	D	2.27	0.64531	M	0.36	0.57880	T	-3.79	0.71639	D	0.485	0.55106	-0.6625	0.62166	T	0.195	0.54855	T	10	0.015613288	0.00328	T	.	.	.	0.334	0.65620	.	.	0.723872044702	0.72143	0.746189120976417	0.74564	1.21594706112	0.80967	.	.	.	0.258872	0.63008	T	-0.338692	0.05480	T	-0.248896	0.49924	T	0.0220957097683878	0.00919	T	0.981352	0.93643	D	0.17457724	0.38270	0.17082462	0.39220	0.17457724	0.38269	0.17082462	0.39219	-13.225	0.91688	D	.	.	0.279	0.54153	B	.;.;.;.	.;.;.;.	5.260253	0.88323	29.6	0.99895128136394651	0.96819	0.96283	0.68385	D	AEFBI	0.836664	0.75439	D	0.388352822415862	0.60791	4.271954	0.29129170253586	0.55029	3.666537	0.455102180305506	0.20575	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.55	2.24	0.27264	3.985000	0.56640	4.985000	0.46489	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.5182:0.4817:0.0:0.0	9.604	0.38789	934	0.15400	FAD/NAD(P)-binding domain;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001362	0.002924	0.050000	0.000000	0.003049	0.015152	0.02632	1613.33	122	chr22	20976743	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.698;DP=804;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.641;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	18	0	1	0
chr22	21026491	21026491	C	T	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001349876:exon11:c.C734T:p.P245L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.757e-05	0	0	0	0	3.207e-05	0	0	6.5e-06	1	154602	rs767835576	2.764e-05	3.078e-05	2.607e-05	2.923e-05	3.606e-05	2.083e-05	1.834e-05	2.213e-05	1.953e-05	3.021e-05	0	0	0	0	0	3.075e-05	3.342e-05	3.606e-05	1.315e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.547e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	34	chr22	21026491	.	C	T	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.52;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	21060419	21060419	G	A	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon9:c.G1070A:p.R357K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.001286466999	.	.	0.0001	0	0	0	0	0	0	0.0003	0.0011142	29	26028	rs774531052	0.0017	0.0018	0.0020	0.0015	0.0026	0.0016	0.0016	0.0025	0.0024	0.0004	0.0012	0	0	0.0005	0.0010	0.0026	0.0019	0.0004	0.0019	0.0021	0.0020	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0006	0.0066	0.0026	0	0	0.0007	0	0.0030	0.0009	0.0004	0.37	0.11550	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.41	0.15492	T	0.98	0.01447	N	0.03	0.00717	-0.9472	0.41448	T	0.016	0.06569	T	6	0.014935434	0.00314	T	0.001286	0.01759	T	0.020	0.03691	.	.	0.0401082797425	0.02173	0.3844893340997006	0.38363	.	.	.	.	.	0.003152	0.02556	T	-0.441399	0.01269	T	-0.871816	0.00725	T	0.0198427871300869	0.00686	T	0.121688	0.00942	T	0.025626978	0.01522	0.065358795	0.13236	0.025626978	0.01522	0.065358795	0.13235	-2.866	0.08808	T	.	.	0.064	0.01786	B	.	.	-0.974797	0.00808	0.027	0.63671944784049428	0.07286	0.00096	0.00628	N	AEFI	0.019896	0.00734	N	-1.08627928806931	0.06895	0.3187402	-1.22201045823474	0.05558	0.2651429	0.00260604521410719	0.09566	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.55	-0.2	0.12567	-0.229000	0.09106	1.183000	0.24710	-0.617000	0.04568	0.014000	0.18986	0.094000	0.22579	0.014000	0.10232	0.4599:0.162:0.3781:0.0	5.176	0.14460	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	41	chr22	21060419	.	G	A	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=767;ExcessHet=0;FS=25.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.64;MQRankSum=-8.525;QD=5.6;ReadPosRankSum=0.154;SOR=3.4	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	18	0	1	0
chr22	21209486	21209486	G	C	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon13:c.C1096G:p.H366D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00383879305227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412946842	0.0011	0.0008	0.0010	0.0011	0.0019	0.0009	0.0009	0.0012	0.0011	0.0019	0.0011	0.0011	0.0013	0.0013	0	0.0008	0.0013	0.0015	0.0009	0.0012	0.0011	0.0007	0.0068	0.0004	0.0003	0.0011	0.0005	0.0004	0	0	0.0114	0.0065	0	0	0.0005	0	0.0068	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.010212	0.30020	N	0.362241	0.999998	0.08975	N	.	.	.	3.42	0.05507	T	2.86	0.00162	N	0.124	0.11626	-0.9701	0.37179	T	0.003	0.00864	T	8	0.0055036545	0.00121	T	0.003839	0.08992	T	0.030	0.07022	0.341	0.33302	0.0675242888579	0.06100	0.47765445847018184	0.47685	2.22411694008	0.95873	.	.	.	.	.	.	-0.438179	0.01326	T	-0.86719	0.00769	T	0.00613393054556093	0.00068	T	0.229577	0.03081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00847	B	.;.	.;.	-0.066918	0.03841	0.826	0.42066679118222272	0.03076	0.00822	0.03319	N	AEFI	0.024696	0.01571	N	-1.78504229245598	0.00583	0.02510654	-1.83340408301581	0.00658	0.02927087	2.3069220024356E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.68	-2.25	0.06498	0.485000	0.22033	-2.685000	0.03469	-1.942000	0.00490	0.367000	0.25900	0.000000	0.08366	0.002000	0.04165	0.0:0.4462:0.175:0.3788	4.218	0.09998	439	0.80177	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	99.25	.	chr22	21209486	.	G	C	99.25	.	AC=2;AF=0.2;AN=10;DP=8;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=30.13;QD=33.08;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:103,9,0	4	1	0	14
chr22	21213145	21213145	G	A	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon12:c.C955T:p.H319Y	.	724	776	21	1	0	23	0.0146032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.0274	0	.	.	.	0.0408	0	.	0.0002329	36	154602	rs749823869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.998495	0.44993	D	.	.	.	2.83	0.10771	T	-5.62	0.86758	D	0.655	0.66959	-0.9059	0.47343	T	0.098	0.36754	T	7	0.014476687	0.00304	T	.	.	.	0.267	0.58126	.	.	0.196089822672	0.19227	0.9171279389418773	0.91687	3.48735837486	0.99735	.	.	.	.	.	.	-0.0600812	0.42896	T	-0.324079	0.42126	T	0.15975962127015	0.17854	T	0.957904	0.84151	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.64839	A	.;.	.;.	2.301525	0.29447	18.13	0.99395599876748419	0.62565	0.91378	0.53413	D	AEFBI	0.634231	0.61418	D	0.22387535086737	0.52359	3.410485	0.0611488377398172	0.42614	2.580594	0.0577911072514629	0.15105	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.7	1.7	0.23359	8.676000	0.90929	11.422000	0.92717	0.305000	0.19019	1.000000	0.71638	1.000000	0.68203	0.388000	0.26514	0.0:0.0:1.0:0.0	9.401	0.37594	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	44.98	3	chr22	21213145	.	G	A	44.98	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.812;DP=195;ExcessHet=0.119;FS=4.682;InbreedingCoeff=-0.0608;MLEAC=2;MLEAF=0.053;MQ=24.32;MQRankSum=1.3;QD=1.73;ReadPosRankSum=1.09;SOR=0.724	GT:AD:DP:GQ:PL	0/0:8,0:8:21:0,21,315	17	0	2	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:2,6:8:50:195,0,50	5	0	13	1
chr22	21445760	21445760	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G865A:p.V289I	.	398	1095	29	0	0	29	0.0130689	.	.	.	3893848	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0045	0.000798722	0.0040	0.0007	0.0021	0	0.0009	0.0062	0.0108	0.0015	0.0033376	516	154602	rs138601828	0.0039	0.0039	0.0039	0.0039	0.0213	0.0038	0.0038	0.0183	0.0171	0.0013	0.0027	0.0326	0	0.0006	0.0213	0.0036	0.0066	0.0012	0.0030	0.0030	0.0032	0.0028	0.0036	0.0028	0.0027	0.0032	0.0031	0.0010	0	0.0027	0.0303	0	0.0005	0.0204	0.0036	0.0061	0.0010	0.064	0.36509	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.312968	0.14401	N	0.699280	1	0.08975	N	0.255	0.09829	N	2.89	0.10196	T	-0.35	0.12847	N	0.064	0.03841	-1.0074	0.27727	T	0.015	0.06282	T	10	0.0022868216	0.00034	T	.	.	.	0.032	0.07718	.	.	0.117191471859	0.11215	0.04514653248244131	0.04458	0.448017709294	0.44648	0.510300815105	0.40265	T	0.022129	0.17114	T	-0.651761	0.00071	T	-0.709131	0.05339	T	0.00099573304214747	0.00010	T	0.463154	0.13467	T	0.04477088	0.07216	0.042352278	0.05024	0.04477088	0.07216	0.042352278	0.05024	-4.759	0.34109	T	.	.	0.106	0.21877	B	.;.;.	.;.;.	0.335655	0.07097	3.667	0.89703002674399623	0.19027	0.10933	0.16293	N	AEFBI	0.047228	0.07929	N	-0.959511898439442	0.09480	0.4488646	-1.00241423907496	0.09732	0.4858989	0.0640159839261247	0.15315	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.74	-1.96	0.07113	1.176000	0.31566	0.293000	0.16894	-0.134000	0.12905	0.002000	0.15269	0.000000	0.08366	0.223000	0.22544	0.4214:0.0:0.4368:0.1418	4.885	0.13054	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.030303	0.016304	0.020468	0.000000	0.008621	0.009146	0.011364	0.02632	934.33	36	chr22	21445760	.	G	A	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=927;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.305;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,111,1357:.	18	0	1	0
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.000000	0.013661	0.008772	0.050000	0.008772	0.015432	0.007576	0.02632	697.33	33	chr22	21445988	.	G	A	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.516;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1357	18	0	1	0
chr22	22646411	22646413	CTC	-	exonic	GGTLC2	.	nonframeshift deletion	GGTLC2:NM_199127:exon1:c.66_68del:p.S23del,GGTLC2:NM_001282879:exon2:c.66_68del:p.S23del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.00159744	0.0004	0.0027	0.0005	0	0	0.0002	0	0	0.0003458	9	26028	rs577474809	0.0002	0.0008	0.0002	0.0001	0.0030	0.0001	0.0001	0.0025	0.0023	0.0030	0.0003	0.0001	0	1.918e-05	0	8.442e-05	0.0002	1.179e-05	0.0008	0.0039	0.0009	0.0007	0.0025	0.0006	0.0006	0.0020	0.0018	0.0025	0	0.0004	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	259.29	36	chr22	22646410	.	TCTC	T	259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.16;MQRankSum=0.106;QD=5.89;ReadPosRankSum=0.164;SOR=0.849	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1030	18	0	1	0
chr22	23059706	23059706	G	A	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon7:c.C803T:p.A268V	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0106011827963	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0	0.0001164	18	154602	rs140606064	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0009	0.0007	3.239e-05	0.0002	0	0	0	0.0018	0.0001	0.0002	8.031e-05	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0002	0.0002	0	0	0.0005	0	0	0	0	0.0002	0.0005	0.0006	0.031	0.45039	D	0.005	0.72224	D	0.996	0.68779	D	0.953	0.69275	D	0.004139	0.34080	N	0.285149	0.999869	0.50061	D	.	.	.	0.92	0.44461	T	-1.95	0.45222	N	0.653	0.66358	-0.6749	0.61607	T	0.255	0.62541	T	10	0.45600924	0.58993	T	0.010601	0.27324	T	0.280	0.59740	.	.	0.518254980372	0.51468	0.33443936314694356	0.33356	0.248300005588	0.27391	0.444015085697	0.31126	T	0.040686	0.25608	T	-0.179481	0.23813	T	-0.196652	0.54963	T	0.257535248994827	0.23206	T	0.772323	0.40326	T	0.11730429	0.27657	0.17385054	0.39740	0.11730429	0.27657	0.17385054	0.39739	-7.253	0.55861	T	.	.	0.436	0.61526	A	.	.	4.427898	0.68635	25.3	0.99906332910021234	0.97726	0.97561	0.75557	D	AEFBI	0.702826	0.65906	D	0.680938055534047	0.78383	6.860644	0.614054985387767	0.75960	6.403833	0.999999946336363	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	7.038000	0.76262	11.268000	0.91307	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:0.0:1.0:0.0	14.318	0.66020	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1554.33	43	chr22	23059706	.	G	A	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.151;DP=751;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-1.722;SOR=0.885	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	0
chr22	23292603	23292603	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon15:c.G2845A:p.V949I,BCR:NM_021574:exon15:c.G2845A:p.V949I	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	0	1508	14	0	0	14	0.00462046	.	.	.	215597	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.241	0.0182670036168	0.0052	0.00259585	0.0049	0.0009	0.0012	0.0001	0.0059	0.0068	0.0077	0.0040	0.0049741	769	154602	rs2229038	0.0067	0.0067	0.0067	0.0066	0.0077	0.0065	0.0065	0.0076	0.0075	0.0011	0.0019	0.0014	5.042e-05	0.0056	0.0038	0.0077	0.0060	0.0036	0.0045	0.0045	0.0045	0.0044	0.0068	0.0042	0.0041	0.0063	0.0061	0.0013	0	0.0034	0.0017	0.0002	0.0067	0	0.0068	0.0038	0.0050	0.094	0.33923	T	0.323	0.28958	T	0.95	0.77913	P	0.49	0.63417	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.135	0.59519	M	-0.86	0.74477	T	-0.71	0.20145	N	0.495	0.52829	-0.2823	0.75478	T	0.376	0.73378	T	10	0.011685669	0.00254	T	0.018267	0.40277	T	0.241	0.54641	.	.	0.711312696307	0.70878	0.3072732985453133	0.30640	0.837086837514	0.67857	0.660765647888	0.61519	T	0.29824	0.67080	T	-0.284361	0.10210	T	-0.175974	0.56894	T	0.0148988651097784	0.00317	T	0.988576	0.97542	D	0.09510405	0.22375	0.09868344	0.23536	0.09510405	0.22375	0.09868344	0.23535	-4.785	0.52945	T	.	.	0.126	0.33732	B	.;.	.;.	4.794663	0.77846	26.8	0.99669306438925331	0.78458	0.97699	0.76499	D	AEFDBHCI	0.866254	0.78561	D	0.380543992642284	0.60367	4.225014	0.400218140924923	0.61578	4.359968	0.999999999999993	0.74766	0.706548	0.73137	0	0.779548	0.99637	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.71	4.71	0.59010	7.824000	0.84838	9.763000	0.81520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	17.020	0.86304	952	0.10565	C2 domain|C2 domain|C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1425.33	36	chr22	23292603	.	G	A	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.039;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1439,0,1026	18	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:61,39:100:99:1438,0,2418	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:70,20:90:99:406,0,1753	9	0	10	0
chr22	23315516	23315516	A	T	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon22:c.A3678T:p.E1226D,BCR:NM_004327:exon23:c.A3810T:p.E1270D	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.00893527500019	.	0.000998403	0.0009	0.0013	0.0005	0.0029	0.0003	0.0009	0.0011	0.0003	0.0009379	145	154602	rs201098494	0.0003	0.0004	0.0003	0.0003	0.0057	0.0003	0.0003	0.0051	0.0048	8.977e-05	0.0004	0.0003	0.0057	1.878e-05	0.0002	0.0002	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.622e-05	0	0.0008	0.0003	0.0027	0	0.0034	0.0002	0	0.0002	0.369	0.11807	T	0.605	0.11299	T	0.0	0.27697	B	0.001	0.27082	B	0.000000	0.84330	D	0.000000	0.99983	0.49637	D	1.04	0.26193	L	1.54	0.30133	T	-0.01	0.07736	N	0.147	0.22614	-1.0553	0.12961	T	0.031	0.13504	T	10	0.009973288	0.00223	T	0.008935	0.23535	T	0.215	0.50805	0.143	0.04650	0.586967713095	0.58371	0.3649300033466368	0.36406	0.0822081401259	0.09269	0.742175459862	0.73292	T	0.168269	0.51521	T	-0.445366	0.01203	T	-0.416817	0.31440	T	0.00978729129027649	0.00129	T	0.716728	0.32905	T	0.29192597	0.52171	0.10352055	0.24841	0.29192597	0.52171	0.10352055	0.24841	-3.274	0.14338	T	.	.	0.406	0.59893	A	.;.	.;.	1.913522	0.24300	16.35	0.98401581359366375	0.41073	0.92295	0.55383	D	AEFDBHCI	0.365346	0.45355	N	-0.670185459092838	0.16874	0.8635841	-0.514446906045861	0.21761	1.178712	0.620904576602281	0.21884	0.722319	0.85440	0	0.635938	0.57008	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	4.72	2.57	0.29928	0.527000	0.22695	0.242000	0.16320	-0.105000	0.15698	0.998000	0.41325	0.312000	0.24278	0.107000	0.18608	0.6795:0.0:0.3205:0.0	6.362	0.20640	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	109	chr22	23315516	.	A	T	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.328;DP=790;ExcessHet=0;FS=1.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.856;SOR=0.858	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1368	18	0	1	0
chr22	23573483	23573483	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C428T:p.P143L,IGLL1:NM_020070:exon3:c.C425T:p.P142L	Agammaglobulinemia 2, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	YES	29864	IGLL1-related_condition|Agammaglobulinemia_2,_autosomal_recessive|not_provided|not_specified	.|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.015329175499	.	0.000399361	0.0002	0.0002	8.637e-05	0.0003	0	0.0003	0	0.0001	7.68e-05	2	26028	rs1064422	0.0009	0.0014	0.0009	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0002	0.0030	0.0001	9.362e-05	0	0.0010	0.0011	0.0002	0.0010	0.0011	0.0010	0.0010	0.0018	0.0009	0.0008	0.0015	0.0014	0.0002	0	0.0002	0.0032	0.0006	0.0003	0	0.0018	0.0009	0.0002	0.014	0.53900	D	0.062	0.45318	T	0.999	0.77913	D	0.991	0.79672	D	0.005925	0.32398	N	0.218379	1.000	0.50806	A	3.605	0.93784	H	3.97	0.03326	T	-8.2	0.97024	D	0.489	0.52297	-0.8815	0.49642	T	0.069	0.28346	T	9	0.105534405	0.19510	T	0.015329	0.35999	T	0.235	0.53788	.	.	0.425148423609	0.42132	0.7267377689045801	0.72617	0.347992445968	0.36675	0.485858261585	0.36866	T	0.412838	0.76688	T	-0.180469	0.23666	T	-0.173064	0.57162	T	0.440202504396439	0.30437	T	0.80002	0.44558	T	0.5680854	0.70955	0.3837885	0.63334	0.29379377	0.52343	0.27212012	0.53118	-10.735	0.78185	D	0.7483821759300645	0.83048	0.462	0.62806	A	.;.	.;.	3.305699	0.45399	22.1	0.95032107470282234	0.26029	0.44647	0.27364	N	AEFGI	0.130407	0.24895	N	-0.102717985226094	0.37273	2.166245	-0.414189093775868	0.24580	1.346819	1.42118404509596E-4	0.05573	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	1.36	0.21139	5.744000	0.68300	3.570000	0.39120	0.370000	0.20262	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.1428:0.0:0.8572:0.0	7.842	0.28563	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	79.33	39	chr22	23573483	.	G	A	79.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=-12.09;QD=0.49;ReadPosRankSum=-2.563;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1318:.	18	0	1	0
chr22	23692209	23692209	G	A	exonic	RGL4	.	nonsynonymous SNV	RGL4:NM_001329424:exon1:c.G179A:p.R60H,RGL4:NM_153615:exon1:c.G179A:p.R60H	.	.	.	.	.	.	.	.	0.9852	0.724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	.	1.653e-05	9.61e-05	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs767297692	1.507e-05	1.505e-05	1.498e-05	1.515e-05	0.0002	9.86e-06	8.42e-06	3.985e-05	2.375e-05	0.0001	0	0	2.523e-05	0	0.0002	1.441e-05	0	0	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	0	0	0	0.031	0.45039	D	0.315	0.20100	T	0.703	0.41913	P	0.099	0.30579	B	0.673466	0.06050	U	1.228780	1	0.08975	N	0	0.06538	N	1.4	0.37405	T	0.17	0.05125	N	0.014	0.00160	-1.0307	0.20227	T	0.038	0.16419	T	10	0.0371162	0.02047	T	8.66E-4	0.00755	T	0.043	0.11576	.	.	0.282575091529	0.27877	0.18304978176628556	0.18223	0.10012679027	0.11315	0.45968067646	0.33266	T	0.011403	0.10182	T	-0.504227	0.00541	T	-0.725395	0.04539	T	0.0294649328984362	0.01907	T	0.433057	0.11799	T	0.028349463	0.02159	0.027891936	0.00977	0.028349463	0.02159	0.027891936	0.00977	-3.858	0.21674	T	.	.	0.095	0.15115	B	.;.	.;.	1.400433	0.18141	13.57	0.87858018215672018	0.17534	0.00110	0.00700	N	AEFDBCI	0.026453	0.01989	N	-1.80874289877358	0.00524	0.02256051	-1.99927019317018	0.00307	0.0135719	0.999996435652094	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	1.33	-2.66	0.05721	-0.233000	0.09056	-0.823000	0.07287	-2.622000	0.00230	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4639:0.0:0.2764:0.2597	3.712	0.07955	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1727.33	44	chr22	23692209	.	G	A	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=817;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.159;SOR=1.034	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	0	1	0
chr22	23764093	23764093	G	C	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001331041:exon2:c.G32C:p.C11S,C22orf15:NM_001376903:exon2:c.G32C:p.C11S,C22orf15:NM_001376904:exon2:c.G32C:p.C11S,C22orf15:NM_001376905:exon2:c.G32C:p.C11S,C22orf15:NM_182520:exon2:c.G32C:p.C11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00461656910579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.08787	T	0.835	0.32568	T	0.024	0.19075	B	0.011	0.15521	B	0.203557	0.16540	N	0.542604	1	0.08975	N	1.04	0.26193	L	0.98	0.42122	T	-0.25	0.64246	N	0.238	0.29081	-1.0180	0.24366	T	0.069	0.28080	T	10	0.09084082	0.15860	T	0.004617	0.11440	T	0.063	0.18251	0.58	0.70604	0.112648838833	0.10856	0.05784660736657252	0.05725	0.171582335915	0.19324	.	.	.	0.009887	0.08971	T	-0.093308	0.37530	T	-0.371807	0.36677	T	0.124774785587261	0.14890	T	0.50435	0.15896	T	0.20369163	0.42455	0.10404945	0.24980	0.20369163	0.42455	0.10404945	0.24980	-2.554	0.09642	T	.	.	0.121	0.34383	B	.;.;.	.;.;.	1.426982	0.18448	13.74	0.63824483644842189	0.07327	0.73577	0.35990	D	AEFDBCI	0.218508	0.34351	N	-0.754467701359651	0.14511	0.7235031	-0.755751828215516	0.15581	0.82017	0.999999214802753	0.74766	0.205752	0.04085	2	0.405561	0.06353	1	0.459711	0.06710	0	0.631631	0.49550	0	.	.	3.74	1.39	0.21325	1.539000	0.35710	3.411000	0.38190	0.670000	0.69193	0.707000	0.28693	0.998000	0.33993	0.021000	0.11733	0.1137:0.0:0.6857:0.2006	5.312	0.15143	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	954.33	38	chr22	23764093	.	G	C	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.16;DP=725;ExcessHet=0;FS=0.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-1.296;SOR=0.829	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1405	18	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4896.79	155	chr22	23765457	.	G	A	4896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.31;DP=945;ExcessHet=0.3672;FS=3.316;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.788;SOR=0.857	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1194	16	0	3	0
chr22	23882787	23882787	G	A	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon8:c.G902A:p.R301Q,SLC2A11:NM_001024939:exon8:c.G911A:p.R304Q,SLC2A11:NM_001282864:exon8:c.G923A:p.R308Q,SLC2A11:NM_030807:exon9:c.G923A:p.R308Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0112	0.0129792	0.0038	0.0401	0.0030	0	0	0.0003	0.0013	6.725e-05	0.0034928	540	154602	rs36015336	0.0012	0.0012	0.0014	0.0011	0.0334	0.0012	0.0012	0.0318	0.0311	0.0334	0.0038	0.0010	0	1.874e-05	0.0045	0.0002	0.0034	0.0001	0.0096	0.0096	0.0097	0.0095	0.0325	0.0092	0.0090	0.0310	0.0304	0.0325	0	0.0046	0.0006	0.0002	0	0	0.0003	0.0085	0.0002	0.656	0.04912	T	0.621	0.07666	T	0.007	0.14184	B	0.013	0.16460	B	0.131107	0.18634	N	0.567095	1	0.08975	N	0.44	0.12706	N	-0.78	0.73631	T	0.5	0.02945	N	0.058	0.09772	-0.9977	0.30563	T	0.017	0.06998	T	10	0.003401935	0.00060	T	.	.	.	0.051	0.14325	.	.	0.258779203287	0.25495	0.13369982003736744	0.13293	0.220665112055	0.24609	0.267582058907	0.05828	T	0.035436	0.23719	T	-0.608135	0.00130	T	-0.620558	0.11142	T	0.000285303257044799	0.00002	T	0.744226	0.36418	T	0.012405551	0.00033	0.017768485	0.00039	0.012405551	0.00033	0.017768485	0.00039	-5.116	0.38117	T	.	.	0.068	0.05188	B	.;.;.;.	.;.;.;.	0.830825	0.12021	8.579	0.83287092344280766	0.14643	0.01417	0.04784	N	AEFDGI	0.052772	0.09450	N	-1.81237097622597	0.00515	0.02219377	-1.81571343814555	0.00710	0.03163679	0.00289582093512256	0.09781	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.12	-4.21	0.03552	-0.054000	0.11783	-0.948000	0.06824	-1.023000	0.01723	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4794:0.0:0.2368:0.2838	3.776	0.08182	976	0.04745	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016113	0.050505	0.020380	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	1919.33	38	chr22	23882787	.	G	A	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=935;ExcessHet=0;FS=2.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.059;SOR=0.865	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr22	23883784	23883784	G	A	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon9:c.G997A:p.E333K,SLC2A11:NM_001024939:exon9:c.G1006A:p.E336K,SLC2A11:NM_030807:exon10:c.G1018A:p.E340K	.	433	1083	5	1	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0229351117824	0.0035	0.00219649	0.0041	0.0004	0.0015	0	0.0056	0.0057	0.0025	0.0032	0.0037451	579	154602	rs79905160	0.0046	0.0046	0.0047	0.0045	0.0055	0.0045	0.0045	0.0050	0.0049	0.0006	0.0019	0.0013	0	0.0074	0.0055	0.0051	0.0040	0.0022	0.0043	0.0043	0.0041	0.0044	0.0064	0.0040	0.0039	0.0059	0.0057	0.0011	0	0.0033	0.0023	0	0.0077	0	0.0064	0.0057	0.0031	0.003	0.68238	D	0.011	0.64786	D	0.996	0.77913	D	0.909	0.64565	D	0.000213	0.47681	D	0.180340	0.999258	0.47641	D	3.44	0.92123	M	0.33	0.58323	T	-3.61	0.69477	D	0.512	0.55106	-0.0173	0.81894	T	0.358	0.72006	T	10	0.013962477	0.00294	T	0.022935	0.45870	T	0.469	0.76355	.	.	0.721725802581	0.71926	.	.	0.678322673278	0.59877	0.537106394768	0.44037	T	0.282028	0.65476	T	-0.248991	0.14223	T	-0.123896	0.61481	T	0.0408309846672076	0.03842	T	0.917708	0.70480	D	0.8040932	0.84168	0.65461147	0.79781	0.8040932	0.84170	0.65461147	0.79782	-9.707	0.72218	D	.	.	0.650	0.76156	P	.;.;.	.;.;.	4.450058	0.69162	25.3	0.99848852802937638	0.92838	0.99252	0.93473	D	AEFDGBI	0.844972	0.76190	D	0.626029843080131	0.74824	6.199053	0.45432411152839	0.64995	4.768076	0.999999967795171	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.17	4.17	0.48303	8.302000	0.89876	9.271000	0.79636	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.821	0.69699	976	0.04745	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006559	0.010101	0.010870	0.000000	0.000000	0.008621	0.006173	0.000000	0.02632	2028.33	34	chr22	23883784	.	G	A	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.333;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1330	18	0	1	0
chr22	23894887	23894887	C	T	exonic	MIF	.	nonsynonymous SNV	MIF:NM_002415:exon2:c.C224T:p.S75F	.	0	1512	8	2	0	12	0.00395257	.	.	.	3204905	MIF-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0128166596525	0.0006	0.000399361	0.0032	0.0021	0.0039	0	0	0.0047	0.0074	0.0025	0.0006921	107	154602	rs182012324	0.0016	0.0015	0.0015	0.0016	0.0053	0.0015	0.0015	0.0038	0.0033	0.0003	0.0006	0.0005	0	0.0019	0.0053	0.0017	0.0010	0.0020	0.0013	0.0013	0.0013	0.0013	0.0020	0.0011	0.0011	0.0018	0.0016	0.0004	0	0.0005	0	0	0.0020	0.0034	0.0020	0.0014	0.0017	0.019	0.50132	D	0.045	0.49390	D	0.302	0.32608	B	0.091	0.29943	B	0.483326	0.12140	N	0.780131	0.999996	0.08975	N	2.195	0.61839	M	.	.	.	-3.05	0.62976	D	0.405	0.44570	-0.9856	0.33687	T	0.090	0.34655	T	9	0.016176522	0.00340	T	0.012817	0.31723	T	0.026	0.05648	.	.	0.380564188046	0.37663	0.4896539457470267	0.48885	1.08941836619	0.77391	0.646210491657	0.59447	T	0.759062	0.93459	D	-0.312453	0.07534	T	-0.227141	0.52049	T	0.0365827873708679	0.03083	T	0.886111	0.61235	D	0.29892302	0.52808	0.18277554	0.41226	0.29892302	0.52808	0.18277554	0.41225	-8.703	0.65765	D	.	.	0.202	0.42706	B	.	.	3.629203	0.51397	23.1	0.98603555641228913	0.43546	0.42073	0.26797	N	ALL	0.527731	0.54955	D	-0.353367447720328	0.27148	1.487204	-0.338778218081487	0.26859	1.486314	0.999999999999976	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.96	2.76	0.31527	0.658000	0.24662	3.676000	0.39452	0.537000	0.25018	0.001000	0.13787	0.727000	0.26391	0.995000	0.73285	0.1511:0.6297:0.1378:0.0814	5.354	0.15357	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003627	0.000000	0.002786	0.015060	0.000000	0.000000	0.000000	0.000000	0.05263	2389.83	46	chr22	23894887	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.723;DP=777;ExcessHet=0.119;FS=5.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.481;SOR=0.406	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	17	0	2	0
chr22	24064143	24064143	C	T	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon14:c.C1843T:p.R615W,CABIN1:NM_001199281:exon15:c.C1993T:p.R665W,CABIN1:NM_012295:exon15:c.C1993T:p.R665W	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0223060488401	0.0006	0.000599042	0.0008	9.614e-05	0.0002	0	0	0.0004	0.0011	0.0045	0.0007244	112	154602	rs138795791	0.0007	0.0007	0.0005	0.0008	0.0043	0.0007	0.0006	0.0040	0.0038	0.0001	0.0002	0	2.519e-05	0	0.0017	0.0005	0.0004	0.0043	0.0004	0.0004	0.0003	0.0005	0.0025	0.0003	0.0003	0.0014	0.0011	0.0003	0	0.0003	0	0	0	0	0.0005	0.0005	0.0025	0.011	0.55530	D	0.008	0.69154	D	0.999	0.77913	D	0.642	0.52168	P	0.000000	0.84330	D	0.049852	0.990441	0.41777	D	1.7	0.43825	L	1.29	0.35775	T	-3.04	0.62863	D	0.585	0.66700	-0.9843	0.33998	T	0.139	0.45715	T	10	0.014355034	0.00302	T	0.022306	0.45185	T	0.213	0.50496	.	.	0.681992695218	0.67928	0.4385320650137147	0.43770	0.967238908264	0.73233	0.373595118523	0.21347	T	0.517226	0.83048	D	-0.28472	0.10174	T	-0.182277	0.56313	T	0.21949902176857	0.21439	T	0.933707	0.75759	D	0.24375682	0.47317	0.19288099	0.42827	0.24375682	0.47317	0.19288099	0.42826	-8.358	0.63898	D	.	.	0.115	0.23360	B	.;.;.;.	.;.;.;.	4.743692	0.76522	26.5	0.9993326999675135	0.99488	0.92878	0.56768	D	AEFDBI	0.705080	0.66058	D	0.53036442072464	0.68895	5.280488	0.554173565206398	0.71687	5.693175	0.970451380309075	0.29209	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.63	0.57175	2.148000	0.41859	3.091000	0.36279	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.2739:0.7261:0.0:0.0	13.011	0.58135	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1747.33	155	chr22	24064143	.	C	T	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=787;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=2.53;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1248	18	0	1	0
chr22	24171996	24171996	G	C	splicing	CABIN1	NM_012295:exon34:c.6040+1G>C;NM_001201429:exon33:c.5890+1G>C;NM_001199281:exon34:c.6040+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253091911	6.863e-07	6.84e-07	0	1.379e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332984	0.85363	D	0.240532	0.85170	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.417650	0.90655	31	0.99509957545140626	0.68558	0.97905	0.78016	D	AEFDBI	.	.	.	1.04699283845865	0.97019	15.46896	0.869577644794053	0.94107	12.50911	0.999631331536484	0.41205	0.256867	0.04430	0	0.271743	0.05004	0	0.231514	0.04749	0	0.221052	0.04502	0	0.966747	0.69479	4.9	4.9	0.63643	3.245000	0.51106	11.660000	0.93977	0.674000	0.70861	0.976000	0.34826	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	14.359	0.66324	732	0.54084	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	40	chr22	24171996	.	G	C	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.671;DP=669;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.502;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	18	0	1	0
chr22	24184153	24184153	T	A	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.T457A:p.S153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00943873079321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.06282	T	0.074	0.42976	T	0.319	0.32965	B	0.094	0.30180	B	0.008169	0.30981	N	0.311908	0.697451	0.30134	N	2.405	0.69568	M	3.01	0.09075	T	-0.57	0.17210	N	0.498	0.53093	-1.0814	0.07079	T	0.026	0.10998	T	10	0.14600152	0.27687	T	0.009439	0.24739	T	0.052	0.14661	0.424	0.46857	0.195762928549	0.19159	0.6326155438678643	0.63195	0.285809531939	0.30989	0.483123451471	0.36486	T	0.010905	0.09797	T	-0.167898	0.25553	T	-0.47895	0.24558	T	0.17835017906104	0.19131	T	0.531447	0.17660	T	0.07232972	0.16083	0.05247355	0.08654	0.07232972	0.16082	0.05247355	0.08653	-3.012	0.10310	T	.	.	0.119	0.24498	B	.	.	2.473069	0.31879	18.87	0.89039777974645962	0.18461	0.86615	0.45932	D	AEFBI	0.178589	0.30586	N	-0.258417506112534	0.30767	1.718753	-0.214689268654412	0.31009	1.750944	0.975203572129108	0.29612	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.6	3.6	0.40374	1.724000	0.37685	2.804000	0.34869	0.661000	0.55757	0.971000	0.34370	1.000000	0.68203	0.612000	0.31691	0.0:0.0:0.0:1.0	10.610	0.44605	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2382.33	44	chr22	24184153	.	T	A	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.105;DP=872;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-1.261;QD=13.24;ReadPosRankSum=-0.481;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1472	18	0	1	0
chr22	24184864	24184864	C	T	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon5:c.C706T:p.P236S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0152435163781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312145899	2.052e-06	2.052e-06	4.084e-06	0	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.091	0.31834	T	0.162	0.31225	T	0.015	0.17086	B	0.033	0.22329	B	0.000146	0.49130	D	0.137957	0.999639	0.20820	N	3.02	0.86243	M	2.15	0.19311	T	-3.22	0.64939	D	0.231	0.25989	-1.0397	0.17404	T	0.049	0.21026	T	10	0.111531615	0.20889	T	0.015244	0.35857	T	0.088	0.25558	0.211	0.12923	0.0297737177859	0.01360	0.5822935399003192	0.58158	0.663401381651	0.59013	0.366413831711	0.20317	T	0.057661	0.30628	T	-0.209962	0.19384	T	-0.539373	0.18359	T	0.660760641098022	0.38929	D	0.653235	0.26349	T	0.06257649	0.13086	0.08698641	0.20190	0.06257649	0.13086	0.08698641	0.20189	-3.583	0.17611	T	.	.	0.179	0.39099	B	.	.	2.163354	0.27562	17.50	0.98435722614514798	0.41453	0.77753	0.38267	D	AEFDBI	0.149593	0.27371	N	-0.689262974513043	0.16326	0.8308143	-0.673085279588233	0.17635	0.938592	0.828110749706986	0.24644	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.12	3.1	0.34780	1.918000	0.39636	2.657000	0.33854	-0.180000	0.10397	0.414000	0.26282	0.991000	0.31484	0.030000	0.13115	0.0:0.8992:0.0:0.1008	10.230	0.42424	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1725.33	36	chr22	24184864	.	C	T	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.104;DP=849;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.378;SOR=0.736	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1404	18	0	1	0
chr22	24185666	24185666	G	A	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon8:c.G1076A:p.R359Q	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00457819736969	0.0002	0.000599042	0.0008	0.0005	0.0001	0	0	7.201e-05	0	0.0053	0.0006015	93	154602	rs151329251	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0004	0.0050	0.0049	0.0001	0	0	0	9.697e-05	0.0030	5.045e-05	0.0004	0.0055	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0002	0	6.538e-05	0	0	0	0	4.41e-05	0.0005	0.0029	0.948	0.02156	T	0.751	0.04790	T	0.017	0.17573	B	0.005	0.11217	B	0.077035	0.21128	N	0.456170	1	0.08975	N	-0.305	0.03614	N	2.01	0.21291	T	-0.24	0.10833	N	0.046	0.01825	-0.9811	0.34748	T	0.017	0.06807	T	10	0.007694185	0.00175	T	0.004578	0.11315	T	0.056	0.15993	.	.	0.0666544352282	0.05500	0.2110054086288696	0.21016	0.213243306905	0.23835	0.260188996792	0.04913	T	0.009026	0.08246	T	-0.637723	0.00086	T	-0.688143	0.06497	T	0.00103870730774802	0.00010	T	0.708829	0.31953	T	0.020210983	0.00571	0.024573008	0.00479	0.020210983	0.00571	0.024573008	0.00479	-3.988	0.23624	T	.	.	0.070	0.03372	B	.	.	-0.759138	0.01190	0.058	0.4744916123239456	0.03880	0.01548	0.05077	N	AEFDGBI	0.068670	0.13557	N	-1.4230018196375	0.02438	0.1076427	-1.47232256941928	0.02574	0.1186038	0.934269122594198	0.27163	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.37	-4.17	0.03595	-1.104000	0.03436	-2.173000	0.04106	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4032:0.0:0.3363:0.2605	3.860	0.08497	814	0.42100	AMOP domain|AMOP domain|AMOP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002020	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1415.33	36	chr22	24185666	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=745;ExcessHet=0;FS=5.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.443;SOR=0.337	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	18	0	1	0
chr22	24220673	24220673	A	G	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302464:exon11:c.T1574C:p.I525T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0003	0.0160	0	0	.	0	0	0	6.47e-05	10	154602	rs375575559	0.0001	5.884e-05	0.0001	8.684e-05	0.0027	7.937e-05	6.916e-05	0.0018	0.0015	0.0027	0.0001	0	0	0	0	6.301e-06	0.0004	1.675e-05	0.0011	0.0011	0.0012	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0005	0	0	0	0	1.47e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	132.33	33	chr22	24220673	.	A	G	132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.51;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.454;SOR=0.79	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,337	18	0	1	0
chr22	24232851	24232851	G	A	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302465:exon2:c.C341T:p.A114V,GGT5:NM_001099782:exon3:c.C472T:p.R158W,GGT5:NM_001302464:exon3:c.C472T:p.R158W,GGT5:NM_001099781:exon4:c.C568T:p.R190W,GGT5:NM_004121:exon4:c.C568T:p.R190W	.	405	1115	2	0	0	2	0.000896057	.	.	.	2673056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0546425233167	7.7e-05	0.000199681	0.0003	0.0006	0.0009	0	0	0.0004	0	0	9.06e-05	14	154602	rs146969821	7.681e-05	0.0001	7.161e-05	8.214e-05	0.0022	6.495e-05	6.037e-05	0.0013	0.0010	0.0002	0.0001	0	2.673e-05	0	0.0022	5.916e-05	0.0003	5.029e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.698e-05	0.0001	9.904e-05	0.0002	0	0.0003	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.003	0.76473	D	0.988	0.67487	D	0.764	0.63276	P	0.376865	0.04396	N	1.433940	1	0.08975	N	2.015	0.55033	M	1.9	0.23486	T	-2.78	0.61435	D	0.508	0.56489	-0.9001	0.47983	T	0.116	0.40986	T	10	0.16185963	0.30350	T	0.054643	0.65935	D	0.145	0.38592	.	.	0.305410167561	0.30157	0.7722193506555136	0.77171	0.721110815847	0.62218	0.378246188164	0.22006	T	0.175463	0.52506	T	-0.124074	0.32460	T	-0.416	0.31534	T	0.125588240145167	0.14969	T	0.877812	0.59215	D	0.34906015	0.56994	0.3010832	0.56141	0.34906015	0.56994	0.3010832	0.56140	-7.126	0.55165	T	.	.	0.141	0.30920	B	.;.;.	.;.;.	2.419895	0.31114	18.64	0.9966650081894457	0.78266	0.09638	0.15349	N	AEFDBI	0.198417	0.32528	N	-0.677371209525004	0.16668	0.8512222	-0.910126465179528	0.11855	0.6064943	0.00445417175288555	0.10566	0.706548	0.73137	0	0.573888	0.26702	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	3.61	-1.73	0.07646	-0.380000	0.07484	-0.686000	0.07862	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.0:0.3136:0.6864	10.362	0.43181	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004103	0.000000	0.006831	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	603.33	35	chr22	24232851	.	G	A	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.109;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	18	0	1	0
chr22	24433553	24433553	C	T	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon2:c.C149T:p.A50V,ADORA2A:NM_001278498:exon2:c.C149T:p.A50V,ADORA2A:NM_001278499:exon2:c.C149T:p.A50V,ADORA2A:NM_001278500:exon2:c.C149T:p.A50V,ADORA2A:NM_001278497:exon3:c.C149T:p.A50V	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0085	0.0081869	0.0025	0.0255	0.0011	0	0	0.0004	0.0011	0.0002	0.0024256	375	154602	rs4530	0.0011	0.0011	0.0012	0.0010	0.0288	0.0010	0.0010	0.0273	0.0267	0.0288	0.0021	0	2.519e-05	0.0002	0.0055	0.0002	0.0029	0.0003	0.0074	0.0074	0.0079	0.0070	0.0250	0.0071	0.0069	0.0238	0.0232	0.0250	0	0.0038	0	0.0002	0.0003	0.0068	0.0003	0.0024	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.32	0.32998	B	0.014	0.16862	B	0.000008	0.62929	N	0.110120	0.99976	0.48888	D	-2.055	0.00172	N	1.44	0.32722	T	1.16	0.01246	N	0.137	0.13769	-0.9954	0.31191	T	0.007	0.02282	T	10	0.009600729	0.00216	T	.	.	.	0.106	0.30130	.	.	0.378322506985	0.37446	0.3689382281795962	0.36807	0.531314514088	0.50634	0.544654846191	0.45103	T	0.154091	0.49522	T	-0.498228	0.00585	T	-0.468174	0.25713	T	0.00611521898484351	0.00067	T	0.815518	0.47957	T	0.31879142	0.54538	0.12881981	0.30985	0.31879142	0.54538	0.12881981	0.30984	-3.243	0.13013	T	.	.	0.070	0.13830	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.122366	0.15080	11.57	0.90020161409704924	0.19309	0.55051	0.29767	D	AEFGBCI	0.245286	0.36625	N	-0.812060228494362	0.13002	0.6375296	-0.596460235728347	0.19584	1.051431	0.999999197932359	0.74766	0.653281	0.48532	0	0.672317	0.65289	0	0.645312	0.48771	0	0.669	0.65921	0	.	.	4.53	3.46	0.38718	1.518000	0.35484	2.186000	0.31169	-0.313000	0.06017	0.912000	0.31733	0.977000	0.30130	0.372000	0.26156	0.0:0.9017:0.0:0.0983	10.834	0.45881	484	0.77165	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	2410.33	33	chr22	24433553	.	C	T	2410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=780;ExcessHet=0;FS=8.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.383;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	18	0	1	0
chr22	24441456	24441456	C	A	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278498:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278499:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278500:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278497:exon4:c.C1206A:p.D402E	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0068	0.00798722	0.0025	0.0265	0.0012	0	0	0.0003	0.0014	0	0.0022639	350	154602	rs61729161	0.0010	0.0009	0.0011	0.0009	0.0290	0.0009	0.0009	0.0274	0.0268	0.0290	0.0024	0	0	0.0001	0.0053	0.0002	0.0027	2.833e-05	0.0073	0.0073	0.0077	0.0068	0.0246	0.0069	0.0068	0.0233	0.0228	0.0246	0	0.0038	0	0.0002	0.0003	0.0068	0.0002	0.0024	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.724677	0.06334	N	1.164370	1	0.08975	N	0.345	0.11182	N	-0.01	0.62762	T	0.16	0.05217	N	0.038	0.01740	-1.0598	0.11805	T	0.036	0.15640	T	10	0.0028060973	0.00044	T	.	.	.	0.054	0.15330	0.24	0.17218	0.353336612579	0.34937	0.2910699688909577	0.29019	0.497925038017	0.48277	0.392538130283	0.24026	T	0.181353	0.53299	T	-0.642097	0.00081	T	-0.675508	0.07260	T	0.0115686710098598	0.00175	T	0.423058	0.11286	T	0.026930822	0.01815	0.02849387	0.01090	0.026930822	0.01814	0.02849387	0.01090	-2.53	0.05990	T	.	.	0.087	0.11172	B	.;.;.;.	.;.;.;.	-0.630625	0.01489	0.093	0.78424646523036101	0.12295	0.03651	0.08906	N	AEFDBHCI	0.040774	0.06111	N	-1.28853125302668	0.03812	0.1709824	-1.38425872248931	0.03419	0.1594495	0.999999999949531	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	4.95	-9.14	0.00598	-1.616000	0.02156	-2.834000	0.03313	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.834000	0.39329	0.1889:0.2434:0.2801:0.2876	0.767	0.00953	480	0.77422	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009577	0.015152	0.013587	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	1080.33	41	chr22	24441456	.	C	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.252;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.752;SOR=0.734	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	18	0	1	0
chr22	24586332	24586332	C	T	exonic	LRRC75B	.	nonsynonymous SNV	LRRC75B:NM_207644:exon4:c.G502A:p.V168M	.	423	1097	2	0	0	2	0.000910747	.	.	.	2208439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.00539793461772	.	.	4.976e-05	0	0.0003	0.0001	0	0	0	0.0001	5.82e-05	9	154602	rs774605663	6.568e-05	6.567e-05	5.038e-05	8.114e-05	0.0003	5.496e-05	5.108e-05	0.0001	9.193e-05	5.974e-05	0.0002	3.826e-05	7.557e-05	1.882e-05	0.0003	6.025e-05	8.279e-05	5.797e-05	5.251e-05	5.249e-05	3.853e-05	6.711e-05	0.0004	2.555e-05	1.828e-05	7.287e-05	3.028e-05	2.404e-05	0	0	0	0.0002	0	0	4.41e-05	0.0005	0.0004	0.205	0.20002	T	0.319	0.19188	T	0.025	0.19245	B	0.01	0.14941	B	0.000171	0.48594	U	0.081533	0.884672	0.58761	N	1.065	0.27018	L	1.52	0.30669	T	-0.26	0.11185	N	0.107	0.09207	-1.0675	0.09971	T	0.040	0.17404	T	10	0.03428912	0.01631	T	0.005398	0.13862	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.20026142656404455	0.19943	0.160173571639	0.18067	0.338604211807	0.16228	T	0.008747	0.08010	T	-0.499133	0.00578	T	-0.653025	0.08744	T	0.0159158175363551	0.00376	T	0.583442	0.21195	T	0.024791794	0.01347	0.033072148	0.02143	0.024791794	0.01347	0.033072148	0.02143	-6.273	0.48508	T	.	.	0.083	0.09143	B	.	.	-0.239803	0.02895	0.415	0.7766580817641916	0.11971	0.06861	0.12886	N	AEFDGBI	0.086629	0.17565	N	-1.19945721073268	0.05009	0.2273587	-1.25494567562442	0.05058	0.240122	0.997454989632813	0.35635	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	3.48	-0.0272	0.13254	-0.097000	0.11010	-0.474000	0.08960	-1.696000	0.00764	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6593:0.155:0.1857	6.07	0.19107	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1635.33	33	chr22	24586332	.	C	T	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=771;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.006;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	18	0	1	0
chr22	24623126	24623126	G	C	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon10:c.G753C:p.E251D,GGT1:NM_013430:exon10:c.G753C:p.E251D,GGT1:NM_013421:exon11:c.G753C:p.E251D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00600105999579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.24	0.24406	T	0.012	0.16265	B	0.03	0.21741	B	0.009004	0.30559	U	0.296342	0.669288	0.33127	D	1.46	0.36832	L	3.06	0.08634	T	-1.96	0.45404	N	0.18	0.20660	-1.0740	0.08556	T	0.017	0.06998	T	10	0.34080076	0.51142	T	0.006001	0.15668	T	0.039	0.10176	0.472	0.54699	0.353785824208	0.34994	0.6613017654218303	0.66067	.	.	0.31980869174	0.13392	T	0.162466	0.50714	T	-0.224382	0.17399	T	-0.560085	0.16370	T	0.20897376537323	0.20899	T	0.840916	0.51656	T	0.28128558	0.51172	0.111431524	0.26879	0.28128558	0.51171	0.111431524	0.26878	-6.789	0.52477	T	.	.	0.123	0.28464	B	.;.;.;.	.;.;.;.	1.524504	0.19571	14.33	0.98838281494584013	0.47068	0.75729	0.37093	D	AEFDBI	0.377154	0.46103	N	-0.388332605157989	0.25883	1.408438	-0.319436045616663	0.27471	1.52458	0.859559951596955	0.25199	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	3.67	2.63	0.30420	0.187000	0.16806	1.122000	0.24252	0.651000	0.53179	0.992000	0.37556	1.000000	0.68203	0.355000	0.25773	0.3552:0.0:0.6448:0.0	4.362	0.10643	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	31	chr22	24623126	.	G	C	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.389;DP=618;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.54;MQRankSum=-1.123;QD=13.73;ReadPosRankSum=-0.373;SOR=0.951	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,850	18	0	1	0
chr22	24898557	24898557	T	G	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001098498:exon18:c.T2425G:p.S809A,SGSM1:NM_001098497:exon19:c.T2608G:p.S870A,SGSM1:NM_133454:exon19:c.T2590G:p.S864A,SGSM1:NM_001039948:exon20:c.T2773G:p.S925A	.	.	.	.	.	.	.	.	0.6288	0.642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0187076506429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.918e-07	6.84e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.077	0.44702	T	0.979	0.59044	D	0.961	0.70482	D	0.000391	0.44960	U	0.151922	0.999937	0.51612	D	2.235	0.63160	M	3.67	0.04188	T	-2.07	0.47514	N	0.52	0.55106	-1.1782	0.00397	T	0.051	0.21572	T	10	0.34105203	0.51163	T	0.018708	0.40862	T	0.125	0.34456	0.543	0.65589	0.204265027416	0.20035	0.5192972955092959	0.51852	0.410434884636	0.41825	0.661852359772	0.61674	T	0.041062	0.25735	T	-0.102149	0.36070	T	-0.384506	0.35194	T	0.95308119058609	0.63944	D	0.775922	0.40781	T	0.1873467	0.40185	0.1910492	0.42541	0.1873467	0.40185	0.1910492	0.42541	-7.519	0.60414	D	.	.	0.155	0.34250	B	.;.;.	.;.;.	4.095806	0.61034	24.3	0.9925818677465974	0.57121	0.98713	0.85906	D	AEFDGBI	0.735169	0.68107	D	0.470291998446728	0.65363	4.813085	0.493215621457186	0.67540	5.097623	0.999563828878704	0.40425	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	5.132000	0.64599	6.000000	0.52472	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	14.363	0.66352	676	0.60355	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	898.33	34	chr22	24898557	.	T	G	898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.999;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.18;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr22	25028244	25028244	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon1:c.C245T:p.P82L	.	.	.	.	.	.	.	.	.	.	.	2268226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0725702275693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs939387953	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	3.165e-05	0.0002	0.0022	5.596e-05	0	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.71e-05	0.0001	7.895e-05	9.616e-05	0	0	0.0012	0	0	0	0.0002	0.0005	0.0004	0.022	0.48642	D	0.118	0.36233	T	0.017	0.17573	B	0.003	0.08700	B	0.266828	0.03746	N	1.632430	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.6	0.17834	N	0.059	0.03069	-1.0410	0.17011	T	0.064	0.26456	T	9	0.0270136	0.00855	T	0.07257	0.71566	D	0.006	0.00375	0.257	0.19845	0.0666544352282	0.05500	0.09409084084917377	0.09341	.	.	0.264668226242	0.05459	T	0.009676	0.08796	T	-0.271868	0.11550	T	-0.628296	0.10545	T	0.0318257062063676	0.02277	T	0.39816	0.10064	T	0.025226502	0.01436	0.025314542	0.00572	0.025226502	0.01436	0.025314542	0.00571	-3.488	0.16265	T	.	.	0.083	0.09094	B	.;.	.;.	0.032397	0.04511	1.213	0.94851726657695201	0.25653	0.08804	0.14678	N	AEFDGBCI	0.047232	0.07931	N	-1.23158112042901	0.04548	0.2054965	-1.28072656037185	0.04691	0.2218707	0.999715230885498	0.42101	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.636168	0.56350	0	.	.	4.62	-1.72	0.07671	-0.053000	0.11802	-0.984000	0.06702	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3064:0.4387:0.0:0.2549	3.563	0.07443	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	908.33	39	chr22	25028244	.	C	T	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=687;ExcessHet=0;FS=3.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.783;SOR=0.854	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,781	18	0	1	0
chr22	25028982	25028982	A	G	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon1:c.A983G:p.D328G	.	.	.	.	.	.	.	.	.	.	.	2371600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00858669725489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs957022850	0.0001	0.0001	8.842e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0018	0	3.111e-05	0	0	0	0.0002	4.67e-06	0.0002	0.0022	5.908e-05	5.905e-05	2.569e-05	9.398e-05	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0.0005	0.0017	0.146	0.25055	T	0.055	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	0.881184	0.08754	N	0.936639	1	0.08975	N	0	0.06538	N	.	.	.	-0.46	0.14978	N	0.103	0.09349	-1.0147	0.25432	T	0.039	0.16763	T	9	0.037682503	0.02138	T	0.008587	0.22705	T	0.026	0.05648	0.272	0.22210	0.0884992946249	0.08302	0.03637571931965691	0.03584	.	.	0.280003815889	0.07493	T	0.001085	0.00603	T	-0.253807	0.13636	T	-0.602353	0.12615	T	0.049052061703752	0.05333	T	0.29697	0.05508	T	0.04848806	0.08459	0.049744163	0.07664	0.04848806	0.08459	0.049744163	0.07663	-2.784	0.08037	T	.	.	0.125	0.26451	B	.;.	.;.	0.852064	0.12243	8.786	0.96279421653658681	0.29276	0.14743	0.18563	N	AEFGBCI	0.067409	0.13251	N	-1.05958935445993	0.07400	0.3436824	-1.06927375356783	0.08310	0.4080439	0.997571901288008	0.35775	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.765956	0.99894	0	.	.	4.37	0.633	0.16883	0.838000	0.27225	0.362000	0.17587	0.662000	0.56354	0.003000	0.16062	0.000000	0.08366	0.027000	0.12703	0.3779:0.2986:0.1786:0.145	1.018	0.01416	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1710.33	96	chr22	25028982	.	A	G	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=1008;ExcessHet=0;FS=3.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.434;SOR=1.015	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	18	0	1	0
chr22	25039111	25039111	G	A	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.G1981A:p.D661N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0456345964243	.	.	.	.	.	.	.	.	.	.	0.0010373	27	26028	rs866316426	0.0008	0.0008	0.0010	0.0007	0.0257	0.0008	0.0008	0.0243	0.0237	0.0257	0.0020	0	0	4.085e-05	0.0018	0.0001	0.0019	1.262e-05	0.0070	0.0070	0.0076	0.0065	0.0244	0.0067	0.0065	0.0231	0.0226	0.0244	0	0.0024	0	0	9.416e-05	0	0.0002	0.0038	0	0.012	0.54683	D	0.468	0.12316	T	0.95	0.53885	P	0.55	0.49239	P	0.403455	0.13093	N	0.683849	1	0.08975	N	1.59	0.40313	L	.	.	.	-1.97	0.45587	N	0.162	0.17002	-1.0810	0.07156	T	0.066	0.27087	T	9	0.007650614	0.00174	T	0.045635	0.62075	D	0.095	0.27398	0.114	0.02306	0.368743488249	0.36480	0.030719156745577358	0.03020	.	.	0.284685313702	0.08154	T	0.016286	0.13489	T	-0.269046	0.11863	T	-0.624242	0.10854	T	0.444852560758591	0.30607	T	0.606339	0.22814	T	0.081811816	0.18815	0.06780625	0.14079	0.081811816	0.18815	0.06780625	0.14078	-4.328	0.28568	T	.	.	0.146	0.40392	B	.;.	.;.	2.197134	0.28021	17.66	0.98112702264888041	0.38367	0.51594	0.28932	D	AEFBI	0.068294	0.13466	N	-0.284687483302233	0.29739	1.651887	-0.404339618092081	0.24870	1.364323	0.00433132592221845	0.10505	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	1.83	0.24279	1.535000	0.35667	4.293000	0.42917	0.676000	0.76740	0.662000	0.28277	0.999000	0.35428	0.012000	0.09680	0.1074:0.1986:0.694:0.0	6.667	0.22237	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2376.33	41	chr22	25039111	.	G	A	2376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.003;DP=983;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-1.159;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	18	0	1	0
chr22	25177438	25177438	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon7:c.C4990T:p.R1664W	.	.	.	.	.	.	.	.	.	.	.	3272238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.068800742005	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376819852	2.858e-05	2.736e-05	3.525e-05	2.173e-05	0.0005	2.154e-05	1.897e-05	0.0003	0.0002	0.0005	0	0	2.798e-05	0	0	1.761e-05	6.896e-05	1.262e-05	7.883e-05	7.879e-05	0.0001	5.378e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.934e-05	0.0002	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.015	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998685	0.45275	D	2.8	0.81625	M	.	.	.	-4.5	0.93697	D	0.53	0.64648	-0.1812	0.78150	T	0.404	0.75473	T	9	0.60242856	0.66987	D	0.068801	0.70553	D	0.288	0.60691	.	.	0.41337360676	0.40951	0.31233766532436724	0.31146	.	.	0.679712891579	0.64226	T	0.225603	0.68820	T	0.000792134	0.51762	T	2.99214e-05	0.70338	D	0.997050285339355	0.90665	D	0.958804	0.84482	D	0.55564386	0.70269	0.40674934	0.65039	0.55564386	0.70270	0.40674934	0.65039	-7.516	0.68013	D	.	.	0.368	0.57695	A	.;.;.;.	.;.;.;.	5.123938	0.85718	28.7	0.99920478623628528	0.98721	0.58845	0.30752	D	AEFDGBI	0.437499	0.49728	N	0.510530872740249	0.67712	5.118	0.426565841886384	0.63227	4.552184	0.991766339136181	0.32601	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.35	4.35	0.51454	1.156000	0.31323	3.130000	0.36437	0.549000	0.26987	0.742000	0.29047	0.997000	0.33255	0.986000	0.61781	0.1994:0.8006:0.0:0.0	10.13	0.41848	958	0.09170	Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, C-terminal;Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, C-terminal;.;Tankyrase 1-binding protein, C-terminal|Tankyrase 1-binding protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1861.33	34	chr22	25177438	.	C	T	1861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=776;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.823;SOR=0.633	GT:AD:DP:GQ:PL	0/1:71,73:144:99:1875,0,1639	18	0	1	0
chr22	25359911	25359911	G	A	exonic	LRP5L	.	nonsynonymous SNV	LRP5L:NM_182492:exon1:c.C182T:p.T61M,LRP5L:NM_001135772:exon4:c.C182T:p.T61M	.	8	1491	22	1	0	24	0.00798403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	0.007	0.00698882	0.0067	0.0025	0.0031	0	0.0032	0.0094	0.0077	0.0054	0.0069986	1082	154602	rs17616994	0.0092	0.0092	0.0092	0.0091	0.0107	0.0090	0.0090	0.0105	0.0105	0.0018	0.0032	0.0052	2.519e-05	0.0041	0.0047	0.0107	0.0067	0.0057	0.0053	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0083	0.0080	0.0023	0	0.0029	0.0035	0.0002	0.0023	0.0034	0.0088	0.0033	0.0060	0.003	0.68238	D	0.023	0.57104	D	0.994	0.66517	D	0.793	0.57829	P	.	.	.	.	0.999468	0.47157	D	0.895	0.22405	L	-2.77	0.90904	D	-2.77	0.58733	D	0.649	0.72299	0.043	0.83097	D	0.437	0.77676	T	9	0.009141475	0.00207	T	.	.	.	0.505	0.78662	.	.	0.440394187108	0.43661	0.804302597219854	0.80384	0.301061417325	0.32454	.	.	.	0.359961	0.72628	T	-0.199259	0.20912	T	-0.0460242	0.67294	D	0.0411187928686381	0.03894	T	0.965703	0.87317	D	0.1210072	0.28462	0.2734422	0.53263	0.1210072	0.28462	0.2734422	0.53262	-5.198	0.38921	T	.	.	0.102	0.20819	B	.;.	.;.	1.844567	0.23437	16.02	0.99764491916807996	0.85335	0.95763	0.66050	D	AEFDGBI	0.697777	0.65567	D	0.154459331486858	0.49022	3.107435	0.0327252795487891	0.41244	2.47468	0.999959702095857	0.48110	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	1.88	1.88	0.24630	8.691000	0.91006	8.297000	0.76926	0.308000	0.19071	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	9.811	0.39992	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.006812	0.002924	0.000000	0.025862	0.006098	0.003788	0.05263	4788.83	39	chr22	25359911	.	G	A	4788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.88;DP=968;ExcessHet=0.119;FS=0.384;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.4;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	17	0	2	0
chr22	25828955	25828955	A	G	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon15:c.A2966G:p.Q989R,MYO18B:NM_032608:exon15:c.A2966G:p.Q989R	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	415	1102	5	0	0	5	0.00226347	.	.	YES	729094	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.248	.	0.0036	0.00339457	0.0013	0.0142	0.0008	0	0	4.52e-05	0	6.154e-05	0.0011837	183	154602	rs61738745	0.0005	0.0005	0.0006	0.0004	0.0150	0.0005	0.0004	0.0139	0.0135	0.0150	0.0010	0	0	0	0.0021	3.777e-05	0.0015	0.0001	0.0041	0.0041	0.0042	0.0040	0.0138	0.0038	0.0037	0.0128	0.0125	0.0138	0	0.0030	0	0	0	0	2.94e-05	0.0024	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.267	0.31683	B	0.079	0.28749	B	0.000086	0.51296	D	0.126707	0.523214	0.31552	N	0.655	0.16177	N	-0.59	0.71543	T	-1.95	0.45222	N	0.296	0.33469	-0.6196	0.64005	T	0.137	0.45260	T	10	0.010510474	0.00233	T	.	.	.	0.248	0.55615	.	.	0.785394474228	0.78341	0.31960329064927756	0.31873	0.0756700949329	0.08493	0.314815461636	0.12636	T	0.339198	0.70837	T	-0.450228	0.01126	T	-0.407822	0.32477	T	0.0751334958163087	0.09353	T	0.744526	0.36463	T	0.48491037	0.66197	0.58684665	0.76037	0.51201874	0.67798	0.5374047	0.73267	-7.023	0.54303	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	2.543547	0.32911	19.18	0.98461709912784012	0.41745	0.97652	0.76172	D	AEFDBI	0.847681	0.76453	D	-0.194427667152266	0.33366	1.892142	-0.0690407108954447	0.36678	2.137572	0.999999995749592	0.74766	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.69	4.69	0.58546	5.789000	0.68677	6.667000	0.56266	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	1.0:0.0:0.0:0.0	13.119	0.58733	982	0.03397	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.005051	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	869.33	35	chr22	25828955	.	A	G	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.403;DP=736;ExcessHet=0;FS=9.777;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.48;SOR=1.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1302	18	0	1	0
chr22	25992432	25992432	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon40:c.C6229T:p.R2077W,MYO18B:NM_032608:exon40:c.C6226T:p.R2076W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	414	1090	17	1	0	19	0.00864029	.	.	.	705850	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.577	0.051947063497	0.0053	0.00259585	0.0044	0.0008	0.0028	0	0.0068	0.0058	0.0022	0.0035	0.0043531	673	154602	rs147898739	0.0056	0.0056	0.0056	0.0056	0.0061	0.0055	0.0054	0.0060	0.0059	0.0009	0.0028	0.0102	0	0.0054	0.0024	0.0061	0.0048	0.0043	0.0039	0.0039	0.0040	0.0038	0.0056	0.0037	0.0036	0.0052	0.0050	0.0010	0	0.0031	0.0104	0	0.0062	0.0136	0.0056	0.0038	0.0033	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.948	0.68536	D	0.000095	0.51296	D	0.078138	0.989157	0.40897	D	2.505	0.72935	M	-2.79	0.91533	D	-7.38	0.94702	D	0.764	0.76666	0.652	0.92563	D	0.788	0.92804	D	10	0.024311632	0.00664	T	0.051947	0.64870	D	0.577	0.82912	.	.	0.935550796387	0.93488	0.6441404262129657	0.64349	0.403975214382	0.41314	0.770931243896	0.77564	T	0.630886	0.88559	D	-0.0840498	0.39052	T	0.113031	0.77773	D	0.0310669745888786	0.02156	T	0.966303	0.87634	D	0.7143402	0.78847	0.5891756	0.76167	0.7399745	0.80292	0.5553399	0.74283	-9.779	0.72577	D	.	.	0.666	0.71578	P	.;.;.	.;.;.	4.077374	0.60628	24.2	0.99910427374318944	0.98022	0.79449	0.39371	D	AEFGBI	0.725726	0.67462	D	0.317332313064618	0.57037	3.86977	0.184900398666448	0.49018	3.110294	0.473051238865149	0.20723	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.17	-1.79	0.07504	2.308000	0.43350	0.425000	0.18262	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.998000	0.85391	0.7291:0.2709:0.0:0.0	15.292	0.73577	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1605.33	40	chr22	25992432	.	C	T	1605.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.415;DP=837;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=2.09;SOR=0.523	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1266	18	0	1	0
chr22	26004767	26004767	T	C	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon42:c.T6385C:p.W2129R,MYO18B:NM_032608:exon42:c.T6382C:p.W2128R	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	415	1102	5	0	0	5	0.00226347	.	.	.	1557822	not_provided|MYO18B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.500	.	.	0.00239617	0.0008	0	0	0	0	0	0	0.0055	0.0006662	103	154602	rs551773968	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	5.975e-05	2.236e-05	0	0	0	0	1.799e-06	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.072	0.43344	T	1.0	0.90584	D	0.998	0.88582	D	0.775368	0.09514	N	0.882142	0.737613	0.33787	D	2.045	0.56016	M	-2.63	0.90210	D	-9.25	0.98277	D	0.835	0.86833	0.602	0.91923	D	0.810	0.93583	D	10	0.022414297	0.00559	T	.	.	.	0.500	0.78350	0.346	0.34112	0.946265207332	0.94569	0.5852883680781582	0.58458	0.519879735987	0.49802	0.616622388363	0.55251	T	0.524034	0.83408	D	-0.137969	0.30214	T	0.0306839	0.72322	D	0.265492768907556	0.23553	T	0.577942	0.20808	T	0.70133585	0.78130	0.6830781	0.81371	0.76449615	0.81721	0.7505464	0.85256	-1.371	0.01520	T	.	.	0.730	0.77089	P	.;.;.	.;.;.	4.659153	0.74342	26.1	0.99617405926884328	0.75172	0.83510	0.42622	D	AEFGBI	0.614048	0.60151	D	0.574870602645145	0.71607	5.676938	0.519523438971325	0.69303	5.341397	0.990054247789582	0.32023	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.173000	0.58043	7.560000	0.60459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	9.847	0.40200	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2336.33	211	chr22	26004767	.	T	C	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.113;DP=838;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=2.11;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	18	0	1	0
chr22	26026570	26026570	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.G6599A:p.R2200Q,MYO18B:NM_032608:exon43:c.G6596A:p.R2199Q	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717378	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.024671889329	0.0023	0.00179712	0.0009	0.0084	0.0004	0.0001	0	0.0003	0	6.058e-05	0.0007633	118	154602	rs114927091	0.0003	0.0003	0.0004	0.0003	0.0086	0.0003	0.0003	0.0078	0.0075	0.0086	0.0004	0	2.519e-05	0	0.0003	0.0001	0.0006	8.115e-05	0.0024	0.0024	0.0024	0.0024	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0007	0	0	0	0	7.353e-05	0.0038	0.0002	0.558	0.06441	T	0.059	0.45961	T	0.052	0.22494	B	0.002	0.06944	B	0.975827	0.07809	N	1.016100	1	0.08975	N	0.885	0.21608	L	-2.18	0.86888	D	-0.25	0.11008	N	0.088	0.07398	-0.7666	0.57044	T	0.329	0.69699	T	10	0.0048083365	0.00102	T	0.024672	0.47657	T	0.166	0.42578	.	.	0.494366844524	0.49069	0.2282878778568734	0.22743	0.0752588783894	0.08437	0.19523255527	0.00332	T	0.027359	0.20051	T	-0.450309	0.01125	T	-0.412792	0.31904	T	0.00424631638839746	0.00045	T	0.517648	0.16760	T	0.027252443	0.01890	0.027956918	0.00989	0.027252443	0.01890	0.027956918	0.00989	-5.596	0.42755	T	.	.	0.070	0.03625	B	.;.;.	.;.;.	-0.400508	0.02210	0.221	0.92721476818637438	0.22219	0.07375	0.13395	N	AEFBCI	0.079736	0.16110	N	-1.42858267169606	0.02391	0.1055101	-1.57283726930812	0.01823	0.08305085	0.986935476100767	0.31153	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.8	-7.37	0.01266	-0.636000	0.05562	-3.747000	0.02564	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4514:0.1178:0.3107:0.1201	2.505	0.04359	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	7101.33	33	chr22	26026570	.	G	A	7101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=1433;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.874;SOR=0.681	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1501	18	0	1	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	9043.33	46	chr22	26027319	.	C	T	9043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.27;DP=3212;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.582;SOR=0.686	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr22	26311843	26311843	T	C	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184774:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184775:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184776:exon8:c.T1757C:p.I586T,SEZ6L:NM_001184777:exon8:c.T1757C:p.I586T,SEZ6L:NM_021115:exon8:c.T1757C:p.I586T	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	.	0.00259585	0.0011	0.0003	0	0	0	7.498e-05	0	0.0075	0.0009767	151	154602	rs201588335	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0004	0.0065	0.0063	5.974e-05	2.236e-05	0	0	0.0001	0.0005	5.126e-05	0.0006	0.0069	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	5.882e-05	0	0.0079	0.073	0.39820	T	0.076	0.49120	T	0.837	0.60381	P	0.52	0.55692	P	0.007797	0.31194	N	0.210137	0.999221	0.46379	D	1.495	0.37439	L	-0.15	0.65192	T	-1.62	0.40660	N	0.526	0.57860	-0.6302	0.63562	T	0.245	0.61354	T	10	0.019358933	0.00431	T	.	.	.	0.262	0.57482	0.752	0.88237	0.176862962021	0.17281	0.6075284372550219	0.60684	1.3017217979	0.83030	0.632603168488	0.57514	T	0.01976	0.41407	T	-0.347716	0.04873	T	-0.268101	0.48011	T	0.0597163625644882	0.07123	T	0.836816	0.50885	T	0.11101968	0.26238	0.14594528	0.34595	0.11101968	0.26238	0.14594528	0.34594	-10.953	0.79839	D	.	.	0.083	0.26886	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.720193	0.75923	26.4	0.99793903392947214	0.87928	0.95446	0.64753	D	AEFBI	0.658558	0.62979	D	0.311294351794532	0.56728	3.838003	0.346625049102507	0.58304	4.000246	0.999946631001139	0.47345	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	5.769000	0.68518	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	13.734	0.62291	933	0.16026	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	33	chr22	26311843	.	T	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.634;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1069	18	0	1	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.02632	1384.33	34	chr22	26477019	.	T	C	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=760;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.911;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	18	0	1	0
chr22	26488200	26488200	G	A	exonic	SRRD	.	nonsynonymous SNV	SRRD:NM_001013694:exon3:c.G422A:p.C141Y	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0475471867352	.	.	2.485e-05	0	0	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs775985021	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.047e-05	4.967e-05	4.637e-05	2.626e-05	2.625e-05	0	5.369e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.95	0.84923	M	0.81	0.48460	T	-4.58	0.78807	D	0.906	0.90704	-0.4363	0.70853	T	0.308	0.67858	T	10	0.81016403	0.80310	D	0.047547	0.62970	D	0.529	0.80128	0.563	0.68364	0.508875229312	0.50527	0.8144161826400522	0.81397	0.240276603734	0.26575	0.646018862724	0.59419	T	0.220365	0.58363	T	0.165624	0.70720	D	0.180427	0.82020	D	0.981040298938751	0.73690	D	0.784922	0.42251	T	0.7570349	0.81278	0.7946199	0.87933	0.7570349	0.81280	0.7946199	0.87934	-14.261	0.93873	D	.	.	0.777	0.76246	P	.	.	5.911330	0.94035	33	0.99795189761695324	0.88017	0.96266	0.68304	D	AEFDGBCI	0.899975	0.84496	D	0.804763253877262	0.86404	8.874363	0.759671436920862	0.86876	9.032446	0.999999999999946	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	7.302000	0.78184	7.455000	0.58998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.238	0.86887	977	0.04225	SRR1-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3582.33	40	chr22	26488200	.	G	A	3582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.479;DP=970;ExcessHet=0;FS=2.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.899;SOR=0.863	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr22	26607993	26607993	G	A	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon4:c.C328T:p.R110C	Cataract 17, multiple types	0	1477	43	2	0	47	0.0156614	.	.	.	471814	not_provided|not_specified|Cataract_17_multiple_types	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.314	.	0.0032	0.00279553	0.0040	0.0005	0.0011	0	0.0002	0.0036	0.0055	0.0130	0.0037774	584	154602	rs147206089	0.0038	0.0038	0.0034	0.0042	0.0130	0.0037	0.0037	0.0119	0.0117	0.0005	0.0013	0.0074	2.519e-05	0.0003	0.0130	0.0035	0.0038	0.0125	0.0025	0.0025	0.0025	0.0024	0.0081	0.0023	0.0022	0.0061	0.0054	0.0005	0	0.0014	0.0084	0	0.0002	0.0034	0.0038	0.0024	0.0081	0.296	0.14694	T	0.334	0.18340	T	0.11	0.26188	B	0.036	0.22909	B	0.018280	0.27521	N	0.409242	1	0.81001	D	1.2	0.30300	L	-1.2	0.78537	T	-2.74	0.58248	D	0.56	0.58458	-0.7390	0.58504	T	0.294	0.66536	T	10	0.01889366	0.00416	T	.	.	.	0.314	0.63588	.	.	0.857164336281	0.85578	0.709777968785086	0.70919	0.44494330437	0.44396	0.426186293364	0.28687	T	0.303705	0.67604	T	-0.314402	0.07366	T	-0.213362	0.53372	T	0.00948379120019987	0.00122	T	0.89791	0.64303	D	0.23340948	0.46144	0.14586306	0.34577	0.27970907	0.51020	0.1532315	0.36015	-7.048	0.54383	T	0.14177902914573434	0.15978	0.150	0.33249	B	.;.	.;.	3.762870	0.53999	23.4	0.94776455865826359	0.25501	0.90965	0.52598	D	AEFDGBI	0.398102	0.47391	N	-0.238859755634585	0.31551	1.770245	-0.138961483284626	0.33837	1.939746	0.999981519265805	0.51787	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.64	2.55	0.29757	3.076000	0.49779	4.347000	0.43075	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1587:0.0:0.8413:0.0	9.879	0.40392	960	0.08626	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.000000	0.006793	0.008772	0.000000	0.008621	0.033537	0.018939	0.02632	2048.33	37	chr22	26607993	.	G	A	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.723;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.532;SOR=0.71	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1564	18	0	1	0
chr22	26616165	26616165	G	T	exonic	CRYBB1	.	nonsynonymous SNV	CRYBB1:NM_001887:exon2:c.C155A:p.A52E	Cataract 17, multiple types	0	1514	6	2	0	10	0.00329164	.	.	.	1291915	Cataract_17_multiple_types	MONDO:MONDO:0012688,MedGen:C3888124,OMIM:611544,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.147467619565	.	0.000798722	0.0006	0	0	0	0	1.499e-05	0.0011	0.0041	0.0004981	77	154602	rs533765538	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0037	0.0035	0	0	0	0	0	0	1.799e-06	0.0003	0.0040	7.878e-05	7.873e-05	2.569e-05	0.0001	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.217	0.19157	T	0.474	0.12107	T	0.002	0.09854	B	0.004	0.10090	B	0.108136	0.19540	U	0.465823	1	0.08975	N	0	0.06538	N	-0.92	0.75108	T	0.29	0.04161	N	0.125	0.11769	-1.0118	0.26353	T	0.195	0.54884	T	10	0.0043132305	0.00087	T	0.147468	0.82949	D	0.146	0.38789	0.326	0.30873	0.479818277033	0.47611	0.64111549455379	0.64046	0.369252935211	0.38454	0.503406047821	0.39302	T	0.038513	0.24867	T	-0.446893	0.01178	T	-0.414441	0.31713	T	0.00885754068946481	0.00110	T	0.221278	0.02853	T	0.079360075	0.18127	0.15448935	0.36257	0.079360075	0.18127	0.15448935	0.36256	-4.855	0.35225	T	0.07140657665154736	0.02840	0.110	0.21163	B	.;.	.;.	0.453531	0.08233	4.975	0.31978565272800363	0.01830	0.01165	0.04195	N	AEFDGBI	0.024493	0.01526	N	-1.86826938970739	0.00399	0.01714069	-1.80201559249826	0.00753	0.03355501	0.99526665000113	0.34034	0.740787	0.97801	0	0.491513	0.07743	0	0.767554	0.98243	0	0.542086	0.14980	0	.	.	3.84	2.8	0.31881	0.852000	0.27417	1.025000	0.23435	-0.955000	0.02012	0.165000	0.23867	0.237000	0.23824	0.005000	0.06747	0.0:0.7064:0.2936:0.0	13.724	0.62229	973	0.05605	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1632.33	40	chr22	26616165	.	G	T	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=749;ExcessHet=0;FS=9.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.19;SOR=0.245	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	18	0	1	0
chr22	27983386	27983386	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6281C:p.R2094T	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0231807865081	0.0007	0.000998403	0.0010	0.0005	0	0	0	0.0003	0.0083	0.0020	0.000207	32	154602	rs377260379	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	0	0.0002	0	0	0	0.0032	0.0001	0.0006	0.0032	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0001	0.0021	0.0017	0	0	0.0001	0	0	0	0	0.0002	0	0.0033	0.302	0.14400	T	0.577	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.548501	0.11461	N	0.803881	1	0.08975	N	0.69	0.16971	N	-2.28	0.87512	D	-0.44	0.14588	N	0.07	0.04307	-0.8150	0.54244	T	0.355	0.71835	T	10	0.004592091	0.00096	T	0.023181	0.46126	T	0.160	0.41473	.	.	0.180583059064	0.17676	0.14376767185211298	0.14299	.	.	0.28329706192	0.07957	T	0.009892	0.08971	T	-0.44489	0.01210	T	-0.413936	0.31773	T	0.0143549316533981	0.00287	T	0.791921	0.43319	T	0.037152942	0.04707	0.030079847	0.01420	0.037152942	0.04707	0.030079847	0.01420	-3.24	0.12976	T	.	.	0.091	0.13268	B	.;.	.;.	0.108193	0.05080	1.619	0.40473705181674696	0.02858	0.04830	0.10558	N	AEFDBI	0.083431	0.16902	N	-1.23946138824804	0.04440	0.2003889	-1.23273563755565	0.05392	0.2567824	0.956323787447266	0.28241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.02	0.503	0.16145	0.740000	0.25856	0.861000	0.22228	-0.181000	0.10308	0.000000	0.06391	0.040000	0.21562	0.002000	0.04165	0.0:0.3476:0.0:0.6524	8.177	0.30448	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003521	0.000000	0.000000	0.008772	0.000000	0.071429	0.000000	0.012500	0.02632	2423.33	34	chr22	27983386	.	C	G	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.762;DP=1547;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.203;SOR=0.858	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	18	0	1	0
chr22	27983491	27983495	AACCC	-	exonic	TTC28	.	frameshift deletion	TTC28:NM_001145418:exon23:c.6172_6176del:p.G2058Ffs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	333.29	34	chr22	27983490	.	AAACCC	A	333.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.681;DP=1519;ExcessHet=0;FS=84.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=1.91;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800:.	18	0	1	0
chr22	27983493	27983493	C	0	exonic	TTC28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	515.27	98	chr22	27983493	.	C	*	515.27	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-3.005;DP=1686;ExcessHet=2.0135;FS=178.168;InbreedingCoeff=-0.3571;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.8;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:98:48:.:.:48,302,3061:.	10	0	1	8
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	376.54	96	chr22	27983494	.	C	G	376.54	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:90:.:.:0,90,2087:.	11	0	3	5
chr22	27983494	27983494	C	T	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173A:p.G2058E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.224313885129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195986563	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.035	0.56640	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	D	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.59	0.94975	D	-2.55	0.55181	D	0.804	0.79986	0.916	0.95895	D	0.856	0.95214	D	10	0.59165335	0.66414	D	0.224314	0.87943	D	0.556	0.81717	0.224	0.14813	0.756568482176	0.75436	0.5476092341175837	0.54686	.	.	0.647781968117	0.59671	T	0.103847	0.41288	T	0.342981	0.86037	D	0.254892	0.85854	D	0.977077484130859	0.71674	D	0.981302	0.93576	D	0.492473	0.66650	0.6240618	0.78091	0.492473	0.66650	0.6240618	0.78091	-0.742	0.00754	T	.	.	0.920	0.84176	P	.;.	.;.	4.595584	0.72728	25.9	0.99752098067145145	0.84382	0.98722	0.86019	D	AEFDBI	0.796825	0.72384	D	0.598580912102731	0.73085	5.908996	0.582186483983672	0.73663	6.007507	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	376.54	96	chr22	27983494	.	C	T	376.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:90:.:.:0,90,2087:.	13	0	1	5
chr22	27983494	27983494	C	0	exonic	TTC28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	376.54	96	chr22	27983494	.	C	*	376.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:90:.:.:0,90,2087:.	13	0	1	5
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,10:97:16:.:.:16,0,3175:.	3	0	6	10
chr22	27983495	27983495	-	GGGGG	exonic	TTC28	.	frameshift insertion	TTC28:NM_001145418:exon23:c.6171_6172insCCCCC:p.G2058Pfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1281.88	98	chr22	27983495	.	C	CGGGGG	1281.88	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:97:16:.:.:16,251,3234:.	8	0	1	10
chr22	27983498	27983498	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6169C:p.E2057Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0199723920898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.561	0.09361	T	0.016	0.17332	B	0.007	0.12992	B	0.001741	0.38106	N	0.255201	0.999664	0.48141	D	1.61	0.41143	L	-2.75	0.90792	D	-0.96	0.25551	N	0.098	0.07949	-0.1657	0.78532	T	0.522	0.82173	D	10	0.13922808	0.26474	T	0.019972	0.42463	T	0.254	0.56428	0.077	0.00572	0.297718772494	0.29385	0.3465506712236305	0.34569	.	.	0.509008228779	0.40083	T	0.020964	0.16408	T	-0.0637236	0.42324	T	-0.329311	0.41547	T	0.442878986007673	0.30535	T	0.922208	0.71716	D	0.14186743	0.32671	0.079534285	0.17914	0.14186743	0.32671	0.079534285	0.17914	-5.497	0.41840	T	.	.	0.114	0.22680	B	.;.	.;.	3.175382	0.43079	21.7	0.99250051994185373	0.56858	0.98031	0.79020	D	AEFDBI	0.670435	0.63752	D	-0.234458581341143	0.31728	1.782017	-0.091052551517455	0.35758	2.072653	0.999902893327491	0.45458	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.62	2.26	0.27418	4.609000	0.60854	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.0:0.7066:0.2934:0.0	13.743	0.62343	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	541.85	54	chr22	27983498	.	C	G	541.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.248;DP=1036;ExcessHet=0.119;FS=188.626;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=1.48;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr22	27983498	27983498	C	T	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6169A:p.E2057K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0430936533174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.164e-07	6.84e-07	0	1.452e-06	9.276e-07	0	0	.	.	0	0	0	0	0	0	9.276e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.856	0.03610	T	0.376	0.34240	B	0.073	0.28123	B	0.001741	0.38106	N	0.255201	0.999925	0.51308	D	1.955	0.52871	M	-2.74	0.90735	D	-1.23	0.31170	N	0.386	0.42737	0.024	0.82739	D	0.533	0.82699	D	10	0.2179769	0.38426	T	0.043094	0.60807	D	0.409	0.72099	0.146	0.04941	0.47185959272	0.46814	0.4833423914607688	0.48254	.	.	0.612065076828	0.54608	T	0.031913	0.22254	T	0.122	0.66573	D	-0.0625321	0.66155	T	0.79408186674118	0.45957	D	0.964603	0.86885	D	0.16349837	0.36495	0.12567413	0.30277	0.16349837	0.36495	0.12567413	0.30277	-5.766	0.44277	T	.	.	0.135	0.29422	B	.;.	.;.	3.495695	0.48878	22.7	0.99788987289798847	0.87484	0.98723	0.86031	D	AEFDBI	0.726267	0.67499	D	-0.0599922872554122	0.39158	2.304669	0.0308910044784763	0.41158	2.468003	0.999902893327491	0.45458	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.62	2.26	0.27418	4.609000	0.60854	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.0:0.7066:0.2934:0.0	13.743	0.62343	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	541.85	54	chr22	27983498	.	C	T	541.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.248;DP=1036;ExcessHet=0.119;FS=188.626;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=1.48;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	18	0	1	0
chr22	27983502	27983504	TTC	-	exonic	TTC28	.	nonframeshift deletion	TTC28:NM_001145418:exon23:c.6163_6165del:p.E2055del	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.164e-06	6.84e-06	5.656e-06	8.711e-06	7.421e-06	3.62e-06	2.64e-06	3.19e-06	2.31e-06	0	0	0	0	0	0	7.421e-06	3.465e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1789.29	54	chr22	27983501	.	ATTC	A	1789.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=864;ExcessHet=0;FS=8.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.907;SOR=0.251	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr22	28679629	28679629	G	A	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C95T:p.S32L	.	1021	487	9	5	0	19	0.0191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	.	.	0.0133	0.0133	0.0125	0.0164	0	0.0088	0.0106	0.0149	0.0008667	134	154602	rs188789710	0.0016	0.0056	0.0012	0.0021	0.0080	0.0016	0.0016	0.0071	0.0067	0.0020	0.0080	0.0024	0.0008	0.0022	0.0022	0.0013	0.0020	0.0046	6.586e-06	0.0002	0	1.347e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.189	0.21224	T	0.328	0.18675	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998512	0.22104	N	0	0.06538	N	-2.41	0.88533	D	0.3	0.04091	N	0.15	0.15328	-1.0451	0.15796	T	0.015	0.05897	T	9	0.0061965287	0.00140	T	.	.	.	0.191	0.46948	.	.	0.536616348568	0.53311	0.21171103643476952	0.21087	.	.	0.770100355148	0.77440	T	0.004587	0.03998	T	-0.0400364	0.45944	T	-0.295286	0.45220	T	0.0301324701786002	0.02010	T	0.49475	0.15329	T	0.08249074	0.19006	0.14541468	0.34488	0.08249074	0.19006	0.14541468	0.34487	-3.607	0.17958	T	.	.	0.081	0.08033	B	.	.	2.856784	0.37735	20.6	0.99176176324305476	0.54527	0.60032	0.31081	D	AEFDBHCIJ	0.265677	0.38275	N	-0.527271285642471	0.21203	1.123457	-0.432638929283547	0.24045	1.314578	0.999948451239031	0.47345	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	1.94	0.811	0.17881	2.139000	0.41773	2.200000	0.31279	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3268:0.6732:0.0	6.048	0.18995	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033333	0.029412	0.104167	0.037037	0.125000	0.000000	0.007812	0.000000	0.03333	155.07	.	chr22	28679629	.	G	A	155.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.282;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=-0.1267;MLEAC=1;MLEAF=0.033;MQ=52.96;MQRankSum=-1.282;QD=31.01;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,99:.	14	0	1	4
chr22	28679671	28679671	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C53G:p.A18G	.	1069	452	0	1	0	2	0.00220751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.89689422662	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234275172	0.0003	0.0042	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	4.156e-05	0.0002	0.0002	0	0.0004	0	0.0004	0.0003	0.0003	0.0001	0.0023	0.0001	0.0001	0.0002	7.162e-05	5.905e-05	9.18e-05	7.108e-05	7.252e-05	0.0011	0	0	0	9.59e-05	0	0.0002	0.0005	0	0.375	0.11370	T	0.261	0.22962	T	0.643	0.40492	P	0.364	0.43306	B	.	.	.	.	0.951176	0.26480	N	0	0.06538	N	-2.43	0.88689	D	-0.09	0.08340	N	0.116	0.10483	-0.4419	0.70667	T	0.463	0.79201	T	9	0.18117163	0.33336	T	0.896894	0.99222	D	0.201	0.48592	0.136	0.04008	0.649436034143	0.64652	0.20210439033523464	0.20127	.	.	0.823815107346	0.85613	D	0.004603	0.04008	T	-0.0602386	0.42870	T	-0.324305	0.42100	T	0.298744353561044	0.24952	T	0.430157	0.11673	T	0.07320659	0.16342	0.113837935	0.27476	0.07320659	0.16342	0.113837935	0.27475	-3.259	0.13214	T	.	.	0.086	0.10642	B	.	.	1.743357	0.22184	15.51	0.96029494542689509	0.28500	0.14534	0.18454	N	AEFDBHCI	0.064221	0.12458	N	-0.500448115593014	0.22065	1.175641	-0.571051935403129	0.20249	1.090102	0.999996121894867	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	2.4	2.4	0.28568	0.522000	0.22617	2.752000	0.34542	0.582000	0.30178	0.019000	0.19563	0.953000	0.29079	0.006000	0.07323	0.0:0.0:1.0:0.0	8.818	0.34168	472	0.77968	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	65.63	.	chr22	28679671	.	G	C	65.63	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.65;DP=37;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.071;MQ=39.26;MQRankSum=0.524;QD=13.13;ReadPosRankSum=1.65;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,84:.	13	0	1	5
chr22	28679713	28679713	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C11G:p.S4W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.980119946498	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937562185	0.0015	0.0065	0.0011	0.0020	0.0258	0.0015	0.0015	0.0242	0.0236	0.0001	0.0002	0.0014	7.738e-05	0.0050	0.0010	0.0008	0.0015	0.0258	1.328e-05	0.0002	0	2.721e-05	2.433e-05	2.21e-06	8.3e-07	.	.	2.433e-05	0	0	0	0	9.825e-05	0	0	0	0	0.007	0.59928	D	0.0	0.92824	D	0.73	0.42641	P	0.07	0.27859	B	.	.	.	.	0.532853	0.31990	D	0	0.06538	N	-2.72	0.90622	D	-0.36	0.13035	N	0.31	0.34981	-0.1927	0.77860	T	0.384	0.74024	T	9	0.27934444	0.45507	T	0.98012	0.99895	D	0.208	0.49714	0.307	0.27806	0.68901499407	0.68634	0.20874333719482321	0.20790	.	.	0.770151615143	0.77447	T	0.006832	0.06256	T	-0.00640932	0.50767	T	-0.246983	0.50114	T	0.329696766303292	0.26213	T	0.515548	0.16619	T	0.06494039	0.13830	0.15296684	0.35965	0.06494039	0.13830	0.15296684	0.35965	-7.102	0.54775	T	.	.	0.157	0.34732	B	.	.	3.240027	0.44223	21.9	0.97481073415641528	0.34188	0.18877	0.20439	N	AEFDBHCIJ	0.146744	0.27027	N	-0.396930620966109	0.25577	1.389521	-0.410088842666588	0.24701	1.354131	0.999974152757145	0.50053	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	2.88	1.85	0.24418	0.434000	0.21212	1.226000	0.25010	0.518000	0.23583	0.186000	0.24138	1.000000	0.68203	0.725000	0.34934	0.1757:0.0:0.8243:0.0	4.856	0.12922	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	74.13	.	chr22	28679713	.	G	C	74.13	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.967;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=-0.1426;MLEAC=2;MLEAF=0.091;MQ=48.74;MQRankSum=-0.967;QD=24.71;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:17:0|1:28679690_T_C:81,0,17:28679690	10	0	1	8
chr22	29260717	29260717	T	C	exonic	RHBDD3	.	nonsynonymous SNV	RHBDD3:NM_001329536:exon5:c.A680G:p.H227R,RHBDD3:NM_012265:exon5:c.A680G:p.H227R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0056	0.00678914	0.0021	0.0217	0.0014	0	0	5.732e-05	0	0	0.0013842	214	154602	rs2231397	0.0005	0.0005	0.0006	0.0004	0.0169	0.0005	0.0004	0.0157	0.0152	0.0169	0.0010	0	0	0	0.0002	2.638e-05	0.0011	4.903e-05	0.0053	0.0053	0.0056	0.0049	0.0183	0.0050	0.0048	0.0172	0.0168	0.0183	0	0.0017	0	0	0	0	7.354e-05	0.0033	0.0002	0.137	0.25979	T	0.355	0.17217	T	0.006	0.13644	B	0.002	0.06944	B	0.484605	0.05001	N	1.312930	1	0.08975	N	1.445	0.36358	L	1.94	0.22678	T	-0.83	0.22727	N	0.196	0.21580	-1.0039	0.28785	T	0.022	0.09330	T	10	0.004280925	0.00086	T	.	.	.	0.063	0.18251	.	.	0.380052290102	0.37618	0.32896953580018645	0.32809	0.016866214272	0.01633	0.385819792747	0.23078	T	0.029612	0.21180	T	-0.691452	0.00041	T	-0.752373	0.03394	T	0.000750171598666941	0.00007	T	0.644436	0.25592	T	0.04533646	0.07402	0.052025452	0.08490	0.04533646	0.07401	0.052025452	0.08489	-2.066	0.03441	T	.	.	0.103	0.18247	B	.	.	1.258136	0.16555	12.62	0.78148786121522296	0.12176	0.23975	0.22248	N	AEFDBCI	0.077236	0.15556	N	-0.604012379836311	0.18822	0.9803379	-0.568123893811798	0.20327	1.094636	0.962029886433829	0.28593	0.631515	0.41029	0	0.643519	0.57511	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.96	1.52	0.22158	-0.048000	0.11898	1.268000	0.25273	0.665000	0.62972	0.091000	0.22601	0.909000	0.28100	0.140000	0.19946	0.2997:0.0858:0.1552:0.4594	1.391	0.02115	485	0.77085	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.005051	0.005450	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	572.33	36	chr22	29260717	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.449;SOR=0.816	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1207	18	0	1	0
chr22	29263909	29263909	A	G	exonic	RHBDD3	.	nonsynonymous SNV	RHBDD3:NM_001329536:exon4:c.T458C:p.L153P,RHBDD3:NM_012265:exon4:c.T458C:p.L153P	.	418	1100	4	0	0	4	0.00181488	.	.	.	2391546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.626	0.122315316842	.	.	5.966e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs773246394	2.363e-05	2.257e-05	1.554e-05	3.193e-05	0.0003	1.685e-05	1.482e-05	0.0001	9.099e-05	0.0003	0	0.0003	0	0	0.0002	2.781e-06	0.0001	8.84e-05	6.573e-06	6.57e-06	0	1.346e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.000000	1	0.81001	D	2.7	0.79018	M	1.31	0.35405	T	-6.01	0.89648	D	0.897	0.89689	-0.6631	0.62139	T	0.217	0.57954	T	10	0.8486854	0.84041	D	0.122315	0.80326	D	0.626	0.85563	0.684	0.82175	0.693726426155	0.69109	0.9097276053578468	0.90946	0.095489251604	0.10790	0.623664736748	0.56246	T	0.178833	0.52962	T	0.152523	0.69504	D	0.177615	0.81858	D	0.844752788543701	0.49720	D	0.694731	0.30590	T	0.93590915	0.94832	0.9085159	0.95583	0.93590915	0.94832	0.9085159	0.95583	-8.422	0.63911	D	.	.	0.590	0.68474	P	.;.	.;.	4.559823	0.71841	25.7	0.99827377230970271	0.90939	0.97937	0.78264	D	AEFDBCI	0.900840	0.84684	D	0.601700116184143	0.73281	5.940774	0.525843140525783	0.69733	5.402939	0.999999999834001	0.74766	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.2	5.2	0.71720	7.637000	0.82466	11.159000	0.87591	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	1.0:0.0:0.0:0.0	14.067	0.64357	483	0.77230	Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002105	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.011719	0.02632	1033.33	33	chr22	29263909	.	A	G	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.686;DP=703;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.884;SOR=0.576	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	18	0	1	0
chr22	29439071	29439071	T	G	exonic	RFPL1	.	nonsynonymous SNV	RFPL1:NM_021026:exon1:c.T280G:p.W94G	.	431	817	232	35	7	309	0.155992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.0091853	0.0050	0	0.0002	0.0118	0	0.0001	0.0022	0.0299	0.0044437	687	154602	rs16987627	0.0022	0.0022	0.0013	0.0031	0.0301	0.0022	0.0021	0.0291	0.0287	0.0001	6.708e-05	0	0.0111	0	0.0017	2.608e-05	0.0029	0.0301	0.0016	0.0016	0.0008	0.0024	0.0368	0.0014	0.0013	0.0323	0.0306	0.0001	0	6.544e-05	0	0.0093	0	0	8.826e-05	0.0005	0.0368	0.326	0.13306	T	0.327	0.18732	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	P	0.895	0.22405	L	1.97	0.22067	T	-1.83	0.42957	N	0.091	0.06990	-0.9983	0.30395	T	0.022	0.09375	T	8	0.0039996207	0.00077	T	.	.	.	0.026	0.05648	0.411	0.44723	0.115124310173	0.11017	0.22197249522303472	0.22112	0.32898471278	0.35010	0.481427848339	0.36254	T	0.028714	0.20737	T	-0.692372	0.00041	T	-0.745691	0.03656	T	0.00800830506017712	0.00095	T	0.0788921	0.00581	T	0.17282526	0.37994	0.12760448	0.30714	0.17282526	0.37994	0.12760448	0.30713	-3.589	0.17698	T	.	.	0.085	0.10256	B	.	.	-0.159278	0.03305	0.573	0.52900540945295171	0.04836	0.00273	0.01482	N	AEFBI	0.065569	0.12796	N	-1.82125171396431	0.00495	0.02131315	-1.91209992184308	0.00463	0.02050865	7.30476045573846E-4	0.07704	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.616125	0.45549	0	.	.	1.23	-2.47	0.06070	-4.428000	0.00270	-10.708000	0.00673	-1.420000	0.01126	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2346:0.2275:0.0:0.5379	2.440	0.04218	521	0.74284	RDM domain, Ret finger protein-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	9079.54	39	chr22	29439071	.	T	G	9079.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.566;DP=1326;ExcessHet=0.3672;FS=1.094;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.006;SOR=0.617	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr22	29481007	29481007	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G745A:p.G249S	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	414	1070	35	3	0	41	0.0187987	.	.	.	77642	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.195	.	0.0020	0.0107827	0.0249	0	0	0.0149	.	0.0154	0.0085	0.0296	0.0036157	559	154602	rs60825978	0.0067	0.0066	0.0058	0.0077	0.0411	0.0066	0.0066	0.0364	0.0345	0.0021	0.0047	0.0232	0.0115	0.0179	0.0411	0.0038	0.0106	0.0330	0.0072	0.0072	0.0060	0.0084	0.0414	0.0068	0.0067	0.0367	0.0349	0.0007	0	0.0057	0.0242	0.0099	0.0164	0.0479	0.0063	0.0085	0.0414	0.396	0.10623	T	1.0	0.01155	T	.	.	.	.	.	.	0.132383	0.18588	N	0.387604	1	0.08975	N	.	.	.	-1.47	0.81067	T	-0.84	0.22944	N	0.107	0.09207	-0.9298	0.44168	T	0.095	0.35818	T	10	0.0027831197	0.00044	T	.	.	.	0.195	0.47612	.	.	.	.	0.08289868046774035	0.08224	1.08208159744	0.77162	0.548835277557	0.45694	T	.	.	.	-0.472215	0.00823	T	-0.428768	0.30074	T	0.00233016498724142	0.00024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	1.400630	0.18148	13.57	0.91404597332805682	0.20671	0.50267	0.28623	D	ALL	0.154538	0.27958	N	-1.65766043803049	0.01003	0.0434865	-1.56724859147163	0.01860	0.0847682	0.999999999998083	0.74766	0.714655	0.82082	0	0.0	0.00010	3	0.378051	0.06126	2	0.526665	0.08891	0	.	.	4.34	-0.513	0.11365	1.461000	0.34866	2.625000	0.33658	-0.109000	0.15193	0.737000	0.28995	0.998000	0.33993	0.613000	0.31716	0.3591:0.1277:0.5132:0.0	6.298	0.20305	678	0.60190	.	.	.	.	.	rs60825978	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.044484	0.052632	0.048077	0.063694	0.000000	0.043478	0.014815	0.034483	0.02632	840.33	35	chr22	29481007	.	G	A	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=707;ExcessHet=0;FS=1.906;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=2.24;SOR=0.442	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1250	18	0	1	0
chr22	29481019	29481019	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G757A:p.A253T	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.156053747268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.324	0.18903	T	.	.	.	.	.	.	0.357788	0.13716	N	0.546570	0.999992	0.08975	N	.	.	.	-2.38	0.88298	D	-1.49	0.36385	N	0.111	0.09772	-0.7536	0.57747	T	0.317	0.68620	T	10	0.12358609	0.23461	T	0.156054	0.83688	D	0.220	0.51569	0.367	0.37524	0.732615154808	0.73023	0.07759383011385368	0.07695	1.05653110796	0.76323	0.673871815205	0.63390	T	.	.	.	-0.102791	0.35962	T	-0.385428	0.35088	T	0.147618624702267	0.16913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	3.090299	0.41606	21.4	0.98247790700102611	0.39539	0.95559	0.65204	D	ALL	0.155625	0.28085	N	-0.698280443702802	0.16070	0.8155535	-0.57038617916065	0.20266	1.091126	0.999999999998722	0.74766	0.623204	0.39778	0	0.567169	0.20442	1	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.89	1.4	0.21393	0.780000	0.26421	7.131000	0.57624	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.1302:0.3199:0.5499:0.0	5.254	0.14853	678	0.60190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1145.33	35	chr22	29481019	.	G	A	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.968;SOR=0.763	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1250	18	0	1	0
chr22	29511293	29511293	T	G	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon19:c.A1801C:p.M601L,THOC5:NM_003678:exon19:c.A1801C:p.M601L,THOC5:NM_001002877:exon20:c.A1801C:p.M601L,THOC5:NM_001002878:exon20:c.A1801C:p.M601L	.	435	1085	1	1	0	3	0.00138058	.	.	.	4091580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0104048577758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437644967	2.743e-06	2.736e-06	2.729e-06	2.758e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	0	1.16e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.201	0.20306	T	0.549	0.09457	T	0.01	0.15535	B	0.007	0.12992	B	0.000000	0.84330	D	0.032160	1	0.81001	D	1.95	0.52479	M	1.91	0.23283	T	-0.74	0.20791	N	0.563	0.59138	-1.1042	0.03620	T	0.075	0.30117	T	10	0.35957536	0.52622	T	0.010405	0.26893	T	0.133	0.36157	0.559	0.67821	0.351614576976	0.34778	0.6717363949684716	0.67111	0.362262837996	0.37885	0.787687897682	0.80091	T	0.088535	0.38180	T	-0.0761516	0.40338	T	-0.347163	0.39530	T	0.499372959136963	0.32606	T	0.825817	0.48860	T	0.28575683	0.51595	0.22275063	0.47130	0.28575683	0.51595	0.22275063	0.47129	-6.955	0.53705	T	.	.	0.245	0.48345	B	.;.;.;.	.;.;.;.	2.632698	0.34238	19.57	0.94297167144645855	0.24605	0.99558	0.97425	D	AEFDBI	0.803341	0.72851	D	0.0451435559783765	0.43918	2.675572	0.206425268535518	0.50203	3.214888	0.999998592282411	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	6.024000	0.70506	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.0:1.0	16.261	0.82367	705	0.57330	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1252.33	91	chr22	29511293	.	T	G	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=717;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=2.16;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	18	0	1	0
chr22	29544567	29544567	G	C	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon3:c.C133G:p.L45V,THOC5:NM_003678:exon3:c.C133G:p.L45V,THOC5:NM_001002877:exon4:c.C133G:p.L45V,THOC5:NM_001002878:exon4:c.C133G:p.L45V	.	435	1051	33	3	0	39	0.0182158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0030	0.00958466	0.0067	0.0010	0.0023	0.0142	0.0002	0.0050	0.0099	0.0189	0.0063583	983	154602	rs61740613	0.0051	0.0051	0.0045	0.0056	0.0494	0.0050	0.0049	0.0447	0.0428	0.0019	0.0046	0.0277	0.0147	0.0004	0.0494	0.0029	0.0085	0.0205	0.0042	0.0042	0.0039	0.0045	0.0257	0.0039	0.0038	0.0220	0.0206	0.0008	0	0.0048	0.0268	0.0118	9.42e-05	0.0442	0.0031	0.0109	0.0257	0.285	0.15354	T	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.012778	0.29061	N	0.324591	0.705251	0.30065	N	0.51	0.13489	N	1.88	0.23884	T	-0.23	0.23156	N	0.223	0.25006	-1.0755	0.08246	T	0.021	0.08732	T	10	0.0036479533	0.00067	T	.	.	.	0.026	0.05648	.	.	0.202086224978	0.19791	0.16630728857062255	0.16550	0.868458416371	0.69307	0.421358346939	0.28023	T	0.028	0.20179	T	-0.550343	0.00290	T	-0.54837	0.17482	T	0.0115453650408759	0.00174	T	0.847115	0.52772	T	0.047572292	0.08154	0.032829687	0.02079	0.047572292	0.08154	0.032829687	0.02079	-3.923	0.22647	T	.	.	0.066	0.06024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.492594	0.32161	18.96	0.97695594081563275	0.35400	0.87414	0.46946	D	AEFDBI	.	.	.	-0.391260137649234	0.25779	1.401982	-0.165713320818619	0.32808	1.870222	0.0291413149525586	0.13871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.45	0.28953	2.476000	0.44830	3.579000	0.39150	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0723:0.2016:0.6052:0.121	6.672	0.22265	719	0.55657	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.043851	0.045455	0.048913	0.067251	0.000000	0.051724	0.018293	0.019084	0.02632	797.33	35	chr22	29544567	.	G	C	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=706;ExcessHet=0;FS=1.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.005;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	18	0	1	0
chr22	29642202	29642202	G	A	exonic	NF2	.	nonsynonymous SNV	NF2:NM_181830:exon2:c.G115A:p.V39I,NF2:NM_181831:exon2:c.G115A:p.V39I,NF2:NM_181828:exon3:c.G238A:p.V80I,NF2:NM_181829:exon3:c.G241A:p.V81I,NF2:NM_000268:exon4:c.G364A:p.V122I,NF2:NM_016418:exon4:c.G364A:p.V122I,NF2:NM_181825:exon4:c.G364A:p.V122I,NF2:NM_181832:exon4:c.G364A:p.V122I,NF2:NM_181833:exon4:c.G364A:p.V122I	Meningioma, NF2-related, somatic;Neurofibromatosis, type 2, Autosomal dominant;Schwannomatosis, Autosomal dominant	.	.	.	.	.	.	.	0.9929	0.822	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10155678394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36912	T	0.266	0.54541	T	0.071	0.73220	B	0.198	0.88582	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	-1.21	0.78645	T	-0.77	0.21429	N	0.565	0.62018	0.777	0.94128	D	0.848	0.94933	D	9	0.49941573	0.61459	T	0.101557	0.77451	D	0.387	0.70358	0.666	0.80401	0.705487273343	0.70292	0.33529918522572916	0.33442	0.65019096863	0.58310	0.73733651638	0.72580	T	0.385744	0.74706	T	0.121281	0.66500	D	-0.0635649	0.66081	T	0.706744417576149	0.41042	D	0.975736	0.94316	D	0.34140512	0.56391	0.31461927	0.57453	0.34140512	0.56391	0.31461927	0.57452	-5.428	0.54238	T	0.31497461163969354	0.41299	0.158	0.54587	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.361482	0.89912	31	0.99783329263226084	0.86955	0.98090	0.79513	D	AEFDGBHCI	0.881271	0.80850	D	0.615799937169805	0.74174	6.087939	0.691870599109843	0.81760	7.602917	1.0	0.98316	0.67177	0.52595	0	0.71359	0.82159	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	9.817000	0.98283	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.294	0.94103	623	0.65786	.;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM, N-terminal|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1422.33	39	chr22	29642202	.	G	A	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.439;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.385;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	18	0	1	0
chr22	29801042	29801042	T	C	exonic	ASCC2	.	nonsynonymous SNV	ASCC2:NM_001369942:exon12:c.A1103G:p.D368G,ASCC2:NM_001369944:exon12:c.A929G:p.D310G,ASCC2:NM_001369947:exon12:c.A929G:p.D310G,ASCC2:NM_001369930:exon13:c.A1403G:p.D468G,ASCC2:NM_001369936:exon13:c.A1295G:p.D432G,ASCC2:NM_001369943:exon13:c.A929G:p.D310G,ASCC2:NM_001369950:exon13:c.A929G:p.D310G,ASCC2:NM_001242906:exon14:c.A1409G:p.D470G,ASCC2:NM_001369925:exon14:c.A1478G:p.D493G,ASCC2:NM_001369927:exon14:c.A1478G:p.D493G,ASCC2:NM_001369929:exon14:c.A1478G:p.D493G,ASCC2:NM_001369934:exon14:c.A1295G:p.D432G,ASCC2:NM_001369937:exon14:c.A1295G:p.D432G,ASCC2:NM_001369939:exon14:c.A1295G:p.D432G,ASCC2:NM_001369941:exon14:c.A1295G:p.D432G,ASCC2:NM_001369949:exon14:c.A929G:p.D310G,ASCC2:NM_001369920:exon15:c.A1637G:p.D546G,ASCC2:NM_001369924:exon15:c.A1637G:p.D546G,ASCC2:NM_001369926:exon15:c.A1478G:p.D493G,ASCC2:NM_001369933:exon15:c.A1295G:p.D432G,ASCC2:NM_001369940:exon15:c.A1295G:p.D432G,ASCC2:NM_001369945:exon15:c.A929G:p.D310G,ASCC2:NM_032204:exon15:c.A1637G:p.D546G,ASCC2:NM_001369922:exon16:c.A1637G:p.D546G,ASCC2:NM_001369923:exon16:c.A1637G:p.D546G,ASCC2:NM_001369928:exon16:c.A1478G:p.D493G,ASCC2:NM_001369932:exon16:c.A1295G:p.D432G,ASCC2:NM_001369935:exon16:c.A1295G:p.D432G,ASCC2:NM_001369938:exon16:c.A1295G:p.D432G,ASCC2:NM_001369946:exon16:c.A929G:p.D310G,ASCC2:NM_001369948:exon16:c.A929G:p.D310G,ASCC2:NM_001369921:exon17:c.A1637G:p.D546G,ASCC2:NM_001369931:exon18:c.A1295G:p.D432G	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0956103917689	0.0073	0.00239617	0.0062	0.0011	0.0019	0	0.0042	0.0098	0.0022	0.0026	0.0074061	1145	154602	rs34833047	0.0086	0.0087	0.0087	0.0085	0.0104	0.0085	0.0084	0.0101	0.0100	0.0015	0.0024	0.0033	2.532e-05	0.0044	0.0104	0.0103	0.0066	0.0030	0.0049	0.0049	0.0055	0.0043	0.0088	0.0046	0.0045	0.0083	0.0080	0.0013	0	0.0020	0.0035	0	0.0023	0.0068	0.0088	0.0057	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.965	0.56013	D	0.772	0.56930	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.755	0.80505	M	2.25	0.55439	T	-5.43	0.92346	D	0.944	0.95139	-0.3317	0.74084	T	0.278	0.65007	T	10	0.011294782	0.00248	T	0.09561	0.76458	D	0.499	0.78288	.	.	0.658992472688	0.65613	0.7314164365503856	0.73086	1.25672025963	0.81924	0.599450290203	0.52826	T	0.313317	0.71445	T	-0.0114327	0.50065	T	0.223775	0.84365	D	0.02521964234416	0.01302	T	0.949205	0.80472	D	0.89989084	0.91373	0.7929983	0.87832	0.89989084	0.91374	0.7929983	0.87832	-17.061	0.98962	D	.	.	0.932	0.92454	P	.;.;.;.	.;.;.;.	4.942344	0.81574	27.6	0.99848373152255032	0.92838	0.99004	0.89829	D	AEFBI	0.887395	0.81961	D	0.759165411296135	0.83499	8.033823	0.727403368585979	0.84457	8.297856	0.99999999996839	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.259000	0.77791	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	14.519	0.67423	604	0.67577	.;.;.;.	.	.	.	.	rs34833047	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.009537	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1049.33	36	chr22	29801042	.	T	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=730;ExcessHet=0;FS=3.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.922;SOR=1.131	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1192	18	0	1	0
chr22	30292490	30292490	G	A	exonic	TBC1D10A	.	nonsynonymous SNV	TBC1D10A:NM_001204240:exon9:c.C1433T:p.P478L,TBC1D10A:NM_031937:exon9:c.C1412T:p.P471L	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00822671097306	0.0002	0.000798722	0.0011	0.0002	0	0.0001	0	9.225e-05	0.0012	0.0093	0.0009379	145	154602	rs201271557	0.0005	0.0005	0.0004	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0.0002	2.257e-05	0	0	0	0.0005	0.0001	0.0006	0.0073	0.0003	0.0003	0.0001	0.0005	0.0070	0.0002	0.0002	0.0052	0.0045	0.0002	0	6.539e-05	0	0	0	0	2.94e-05	0	0.0070	0.218	0.23997	T	0.2	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	0.781631	0.06658	N	1.105750	0.999993	0.08975	N	0.255	0.09829	N	3.57	0.04696	T	-0.73	0.24898	N	0.044	0.01658	-0.9086	0.47025	T	0.007	0.02558	T	10	0.0040166974	0.00078	T	0.008227	0.21801	T	0.006	0.00375	.	.	0.110392049598	0.10638	0.12787806013386602	0.12712	0.129712871684	0.14626	0.337988257408	0.16137	T	0.013999	0.14645	T	-0.66681	0.00057	T	-0.726738	0.04476	T	0.00156961605645816	0.00016	T	0.631037	0.24617	T	0.030365663	0.02687	0.030268217	0.01462	0.030365663	0.02687	0.030268217	0.01462	-6.36	0.49196	T	.	.	0.067	0.03301	B	.;.;.	.;.;.	0.002570	0.04298	1.082	0.48356280803964269	0.04028	0.09690	0.15389	N	AEFDBCI	0.087427	0.17727	N	-1.35421765901901	0.03081	0.1370932	-1.36039279258476	0.03685	0.1723958	0.998949228135894	0.38034	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.97	-1.97	0.07091	-0.777000	0.04775	0.332000	0.17294	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3717:0.228:0.4003:0.0	5.066	0.13921	315	0.87208	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.02632	1118.33	34	chr22	30292490	.	G	A	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.86;SOR=0.615	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1132,0,1285	18	0	1	0
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I,CCDC157:NM_001318334:exon3:c.G82A:p.V28I,CCDC157:NM_001318335:exon3:c.G82A:p.V28I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2411.33	49	chr22	30366082	.	G	A	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=805;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.28;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	18	0	1	0
chr22	30370855	30370855	C	T	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon5:c.C950T:p.A317V,CCDC157:NM_001318334:exon5:c.C950T:p.A317V	.	370	1148	3	1	0	5	0.00217297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0193088133658	.	0.000199681	2.662e-05	0.0001	0	0.0001	0	1.618e-05	0	0	2.59e-05	4	154602	rs546033949	1.164e-05	1.163e-05	8.177e-06	1.514e-05	0.0004	7.09e-06	5.8e-06	6.746e-05	3.274e-05	0	0	0	0	0	0.0004	3.597e-06	4.973e-05	9.281e-05	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.811e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.279	0.15561	T	0.222	0.25748	T	0.239	0.30839	B	0.038	0.23361	B	0.167215	0.17482	N	0.576604	1	0.08975	N	2.48	0.72069	M	1.09	0.39223	T	-1.02	0.26843	N	0.121	0.11197	-1.0755	0.08246	T	0.060	0.25273	T	10	0.02668956	0.00829	T	0.019309	0.41638	T	0.116	0.32463	.	.	0.124217242631	0.12060	0.1175032244188644	0.11678	0.150935704758	0.17036	0.30754750967	0.11537	T	0.002283	0.01681	T	-0.291043	0.09531	T	-0.472449	0.25253	T	0.0586722493171692	0.06957	T	0.762324	0.38756	T	0.033732396	0.03651	0.046223067	0.06395	0.033732396	0.03650	0.046223067	0.06395	-6.068	0.46844	T	.	.	0.100	0.17317	B	.;.	.;.	2.280214	0.29155	18.03	0.99484468000770643	0.67069	0.11664	0.16782	N	AEFDBCI	0.076144	0.15311	N	-0.524206453479251	0.21298	1.129329	-0.486766421460147	0.22517	1.223421	0.998550781949711	0.37186	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.93	1.14	0.19817	0.093000	0.14925	1.239000	0.25094	0.599000	0.40250	0.000000	0.06391	0.571000	0.25572	0.734000	0.35233	0.3981:0.2768:0.1048:0.2203	1.182	0.01734	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1223.33	33	chr22	30370855	.	C	T	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.079;DP=703;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.102;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	18	0	1	0
chr22	30495587	30495587	G	A	exonic	SEC14L4	.	nonsynonymous SNV	SEC14L4:NM_001161368:exon4:c.C230T:p.P77L,SEC14L4:NM_174977:exon4:c.C230T:p.P77L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0828141547166	.	0.000199681	3.306e-05	0	0	0	0	1.504e-05	0	0.0002	3.88e-05	6	154602	rs202227787	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0009	1.392e-05	1.204e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	6.295e-06	4.968e-05	0.0002	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.015	0.52492	D	0.015	0.63109	D	0.648	0.40583	P	0.352	0.42883	B	0.011748	0.29415	N	0.350346	0.62576	0.32745	D	3.515	0.92918	H	-0.89	0.76300	T	-8.21	0.96839	D	0.263	0.29774	-0.3049	0.74848	T	0.512	0.81671	D	10	0.28746036	0.46329	T	0.082814	0.73981	D	0.208	0.49714	0.463	0.53242	0.881795912367	0.88064	0.7420069266650826	0.74146	0.164289705123	0.18538	0.249614804983	0.03727	T	0.094892	0.39510	T	-0.206501	0.19874	T	-0.297732	0.44965	T	0.343521237373352	0.26763	T	0.89741	0.64114	D	0.21236333	0.43586	0.121328555	0.29274	0.21236333	0.43586	0.121328555	0.29274	-7.134	0.55006	T	.	.	0.134	0.29144	B	.;.	.;.	1.969099	0.25016	16.61	0.95358615795014645	0.26754	0.79150	0.39167	D	AEFDBI	0.189790	0.31703	N	-0.284361014364438	0.29752	1.652715	-0.428261885267507	0.24172	1.322185	0.978733471699579	0.29953	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.18	1.85	0.24418	3.543000	0.53387	2.997000	0.35905	-0.807000	0.03101	0.536000	0.27236	0.259000	0.23971	0.011000	0.09372	0.1533:0.0:0.7034:0.1433	6.635	0.22071	334	0.86273	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1988.33	76	chr22	30495587	.	G	A	1988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=1014;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.95;SOR=0.659	GT:AD:DP:GQ:PL	0/1:91,75:166:99:2002,0,2590	18	0	1	0
chr22	30538899	30538899	G	A	exonic	SEC14L6	.	nonsynonymous SNV	SEC14L6:NM_001193336:exon2:c.C58T:p.R20W	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	.	.	0.00279553	0.0073	0.0010	0.0021	0	0.0252	0.0062	0.0081	0.0078	0.0002305	6	26028	rs9608973	0.0051	0.0051	0.0050	0.0052	0.0211	0.0050	0.0050	0.0180	0.0169	0.0007	0.0025	0.0053	8.366e-05	0.0206	0.0211	0.0045	0.0050	0.0077	0.0049	0.0049	0.0043	0.0055	0.0060	0.0046	0.0045	0.0052	0.0050	0.0010	0	0.0022	0.0060	0.0002	0.0212	0.0170	0.0056	0.0038	0.0060	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.99669	0.43358	D	4.245	0.98026	H	-2.33	0.87910	D	-5.68	0.87223	D	0.342	0.38335	0.314	0.87775	D	0.699	0.89624	D	7	0.008291423	0.00188	T	.	.	.	0.421	0.73005	.	.	0.914993449436	0.91413	0.8568166193691308	0.85644	0.0275583687716	0.02819	0.291940420866	0.09204	T	0.340345	0.70938	T	-0.214602	0.18737	T	-0.0730754	0.65406	T	0.129227198938751	0.15310	T	0.915608	0.69895	D	0.11142177	0.26330	0.13525529	0.32390	0.11142177	0.26330	0.13525529	0.32389	-11.409	0.81853	D	.	.	0.179	0.39029	B	.	.	2.048454	0.26042	16.98	0.99846715317920354	0.92663	0.74829	0.36616	D	AEFDBI	0.328558	0.42918	N	-0.127875198169098	0.36181	2.08796	-0.331579613762432	0.27085	1.500486	0.298767655284456	0.19166	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.33	0.844	0.18083	2.404000	0.44192	-0.340000	0.09823	0.618000	0.50648	0.929000	0.32243	0.000000	0.08366	0.007000	0.07825	0.1088:0.0:0.725:0.1662	6.911	0.23515	340	0.86005	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025918	0.015152	0.014577	0.066434	0.000000	0.056604	0.012579	0.031250	0.02632	1388.33	117	chr22	30538899	.	G	A	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=1581;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.912;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1471	18	0	1	0
chr22	30572820	30572830	AGGAGCCCTTC	-	exonic	GAL3ST1	.	frameshift deletion	GAL3ST1:NM_001318109:exon1:c.39_49del:p.K14Afs*4	.	1012	509	1	0	0	1	0.000981354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389057644	0	1.272e-05	0	0	.	0	0	.	.	.	0	.	0	0	.	0	0	.	7.228e-05	7.223e-05	5.14e-05	9.415e-05	0.0002	3.971e-05	3.127e-05	7.91e-05	5.995e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	723.29	34	chr22	30572819	.	AAGGAGCCCTTC	A	723.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=700;ExcessHet=0;FS=2.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.427;SOR=1.068	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,954	18	0	1	0
chr22	30636763	30636763	G	A	exonic	SLC35E4	.	nonsynonymous SNV	SLC35E4:NM_001001479:exon1:c.G313A:p.G105S,SLC35E4:NM_001318370:exon1:c.G313A:p.G105S,SLC35E4:NM_001318371:exon1:c.G313A:p.G105S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0126571669457	.	0.000199681	8.999e-05	0	0	0.0001	0	0.0001	0	0.0001	7.12e-05	11	154602	rs547367556	0.0001	0.0001	0.0001	9.777e-05	0.0002	9.105e-05	8.611e-05	0.0001	9.465e-05	2.99e-05	0.0002	0	0	0	0.0002	0.0001	0.0001	0.0002	7.219e-05	7.217e-05	7.706e-05	6.711e-05	0.0004	3.967e-05	3.124e-05	7.29e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.894	0.02712	T	0.948	0.02632	T	0.0	0.12996	B	0.001	0.06944	B	0.140890	0.18294	N	0.611291	1	0.08975	N	-0.525	0.02545	N	0.75	0.50192	T	0.76	0.01978	N	0.026	0.01274	-1.0098	0.26981	T	0.045	0.19275	T	10	0.018066049	0.00390	T	0.012657	0.31427	T	0.025	0.05312	.	.	0.0846915920261	0.08053	0.13516651783391653	0.13440	0.366955075449	0.38266	0.425296008587	0.28565	T	0.007159	0.06575	T	-0.429822	0.01486	T	-0.563037	0.16093	T	0.0236460347186353	0.01101	T	0.529047	0.17505	T	0.025779994	0.01554	0.04708854	0.06705	0.025779994	0.01554	0.04708854	0.06704	-4.982	0.36644	T	.	.	0.095	0.14888	B	.;.;.	.;.;.	0.532794	0.09013	5.797	0.82365906499175578	0.14154	0.03646	0.08897	N	AEFDBCI	0.031429	0.03361	N	-1.12737969502514	0.06160	0.2828348	-1.05783358043863	0.08545	0.4206247	0.999999918792955	0.74766	0.0	0.00013	3	0.405561	0.06353	1	0.584781	0.30282	0	0.372554	0.06265	0	.	.	5.48	2.0	0.25495	0.567000	0.23311	0.633000	0.20247	-0.138000	0.12486	0.001000	0.13787	0.000000	0.08366	0.710000	0.34452	0.3646:0.3432:0.2922:0.0	7.212	0.25115	584	0.69381	Sugar phosphate transporter domain;.;Sugar phosphate transporter domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	34	chr22	30636763	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=860;ExcessHet=0;FS=1.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.61;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,963	18	0	1	0
chr22	30893490	30893490	G	C	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon8:c.G650C:p.S217T,OSBP2:NM_001282740:exon9:c.G917C:p.S306T,OSBP2:NM_001282741:exon9:c.G1244C:p.S415T,OSBP2:NM_001282739:exon10:c.G2015C:p.S672T,OSBP2:NM_030758:exon10:c.G2018C:p.S673T,OSBP2:NM_001282738:exon11:c.G1520C:p.S507T	.	429	1036	55	2	0	59	0.0276865	.	.	.	705879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0058	0.00559105	0.0075	0.0014	0.0054	0.0008	0.0027	0.0084	0.0067	0.0146	0.0074514	1152	154602	rs35988107	0.0075	0.0075	0.0072	0.0078	0.0203	0.0074	0.0073	0.0173	0.0162	0.0011	0.0039	0.0018	0.0008	0.0030	0.0203	0.0079	0.0066	0.0146	0.0047	0.0047	0.0048	0.0047	0.0137	0.0044	0.0043	0.0110	0.0101	0.0010	0	0.0025	0.0029	0.0012	0.0026	0.0170	0.0076	0.0038	0.0137	0.551	0.11406	T	0.627	0.11371	T	0.722	0.52538	P	0.646	0.53442	P	0.000000	0.84330	D	0.039087	1	0.81001	D	0.82	0.20857	L	1.62	0.28189	T	-1.82	0.43149	N	0.436	0.57775	-0.9404	0.42552	T	0.137	0.45260	T	10	0.009020358	0.00204	T	.	.	.	0.115	0.32236	.	.	0.616152070139	0.61304	0.47219143401444963	0.47138	1.33722759673	0.83768	0.670831441879	0.62956	T	0.01501	0.24677	T	-0.396612	0.02437	T	-0.330158	0.41451	T	0.023354836228443	0.01065	T	0.689931	0.30012	T	0.3401212	0.56290	0.2671612	0.52570	0.3401212	0.56290	0.2671612	0.52569	-10.391	0.77845	D	.	.	0.072	0.17827	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.192385	0.63195	24.6	0.9215383385114102	0.21514	0.98338	0.81774	D	AEFBI	0.662016	0.63203	D	0.296042627887522	0.55947	3.758913	0.410878477034044	0.62240	4.436314	0.999999818104789	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.663124	0.60104	0	0.683762	0.67416	0	.	.	5.19	5.19	0.71428	4.024000	0.56928	4.518000	0.43675	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.501	0.90829	600	0.68026	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.008152	0.043860	0.000000	0.017241	0.024390	0.018939	0.07895	6852.77	161	chr22	30893490	.	G	C	6852.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.113;DP=907;ExcessHet=0;FS=0.527;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.07;ReadPosRankSum=-1.84;SOR=0.778	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1352	17	1	1	0
chr22	30893904	30893904	A	G	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon10:c.A910G:p.M304V,OSBP2:NM_001282740:exon11:c.A1177G:p.M393V,OSBP2:NM_001282741:exon11:c.A1504G:p.M502V,OSBP2:NM_001282739:exon12:c.A2275G:p.M759V,OSBP2:NM_030758:exon12:c.A2278G:p.M760V,OSBP2:NM_001282738:exon13:c.A1780G:p.M594V	.	420	1044	56	2	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0060	0.00599042	0.0133	0.0028	0.0158	0.0018	0.0046	0.0149	0.0086	0.0189	0.0069921	1081	154602	rs34240867	0.0077	0.0077	0.0073	0.0080	0.0206	0.0075	0.0075	0.0176	0.0164	0.0024	0.0039	0.0018	0.0008	0.0029	0.0206	0.0079	0.0070	0.0159	0.0050	0.0050	0.0050	0.0050	0.0168	0.0047	0.0046	0.0138	0.0127	0.0017	0	0.0025	0.0029	0.0012	0.0027	0.0170	0.0076	0.0038	0.0168	0.999	0.02412	T	0.992	0.02917	T	0.0	0.02946	B	0.001	0.04355	B	0.107638	0.19562	N	0.526269	0.999863	0.19989	N	-0.625	0.02162	N	1.61	0.28391	T	1.2	0.01213	N	0.07	0.06854	-1.0257	0.21853	T	0.015	0.06234	T	10	0.0027489364	0.00043	T	.	.	.	0.017	0.02790	.	.	0.303781844768	0.29979	0.1894865147558149	0.18866	0.559266118896	0.52473	0.47786283493	0.35762	T	0.001929	0.10097	T	-0.644937	0.00078	T	-0.68621	0.06611	T	0.000873943526979934	0.00008	T	0.122088	0.00949	T	0.04647788	0.07784	0.05229954	0.08589	0.04647788	0.07783	0.05229954	0.08588	3.517	0.00015	T	.	.	0.045	0.00165	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.214570	0.05978	2.417	0.75529492578270707	0.11110	0.29702	0.23891	N	AEFBI	0.055078	0.10069	N	-1.07926312379528	0.07026	0.3251849	-0.916998914620541	0.11693	0.5972872	0.930902025339493	0.27026	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.26	1.95	0.25130	0.880000	0.27798	0.945000	0.22881	-0.103000	0.15852	0.613000	0.27855	0.340000	0.24418	0.515000	0.29359	0.2081:0.1218:0.6701:0.0	7.269	0.25420	600	0.68026	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016129	0.005102	0.008152	0.043860	0.000000	0.017241	0.024390	0.022727	0.07895	7269.77	180	chr22	30893904	.	A	G	7269.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.453;DP=914;ExcessHet=0;FS=0.571;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.84;ReadPosRankSum=1.23;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1352	17	1	1	0
chr22	30935306	30935306	C	T	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon18:c.G1754A:p.R585H,MORC2:NM_001303257:exon18:c.G1754A:p.R585H,MORC2:NM_014941:exon19:c.G1568A:p.R523H	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	694710	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2Z	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014736,MedGen:C5569025,OMIM:616688,Orphanet:466768	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00544001946454	0.0002	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	6.551e-05	0.0001229	19	154602	rs137983239	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	2.987e-05	8.952e-05	0.0027	0	0	0.0003	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	7.899e-05	4.828e-05	0	0.0001	0.0037	0.0002	0	0	0.0002	0	0.0002	0.243	0.17526	T	0.267	0.22561	T	0.996	0.68779	D	0.732	0.55359	P	0.000000	0.84330	D	0.048632	0.998424	0.44899	D	0.665	0.16292	N	2.67	0.12473	T	-1.35	0.35597	N	0.333	0.37405	-1.1937	0.00203	T	0.052	0.22230	T	10	0.03091985	0.01222	T	0.00544	0.13984	T	0.115	0.32236	.	.	0.287411543184	0.28351	0.2007166281082292	0.19988	0.187802654429	0.21102	0.73128092289	0.71693	T	0.052532	0.29189	T	-0.366187	0.03792	T	-0.463455	0.26223	T	0.0881263613700867	0.10993	T	0.90111	0.65631	D	0.11677131	0.27538	0.09704016	0.23083	0.11677131	0.27538	0.09704016	0.23082	-5.248	0.39566	T	0.14339026437009214	0.16297	0.142	0.32969	B	.;.	.;.	4.020492	0.59374	24.1	0.991057276043667	0.52597	0.92593	0.56076	D	AEFBI	0.274958	0.39003	N	0.546871264793742	0.69891	5.421977	0.594861368874081	0.74569	6.159602	0.732118689777331	0.23065	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.068000	0.57252	7.701000	0.66289	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.1453:0.8547:0.0:0.0	14.584	0.67906	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3825.33	35	chr22	30935306	.	C	T	3825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.33;DP=916;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.09;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	31125007	31125007	T	G	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.T268G:p.C90G,INPP5J:NM_001284286:exon3:c.T67G:p.C23G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	.	0.00339457	0.0016	0.0049	0.0051	0	0	0.0018	0.0031	0.0003	0.0007503	116	154602	rs200108828	0.0008	0.0008	0.0008	0.0008	0.0063	0.0008	0.0007	0.0047	0.0041	0.0019	0.0031	0.0048	2.717e-05	0	0.0063	0.0006	0.0019	0.0002	0.0020	0.0020	0.0020	0.0020	0.0076	0.0018	0.0018	0.0065	0.0061	0.0026	0	0.0076	0.0046	0	0	0.0272	0.0007	0.0047	0.0004	0.026	0.48642	D	0.112	0.37037	T	0.003	0.11197	B	0.004	0.10090	B	0.032437	0.25031	N	0.291605	1	0.08975	N	0	0.06538	N	-4.33	0.97267	D	-0.47	0.84954	N	0.192	0.21056	-0.1374	0.79228	T	0.731	0.90801	D	8	0.005458653	0.00120	T	.	.	.	0.261	0.57352	.	.	0.660296042158	0.65745	0.07140672466604071	0.07077	.	.	0.399773299694	0.25037	T	0.097426	0.40023	T	-0.213008	0.18958	T	-0.0830513	0.64680	T	0.00530926705725693	0.00057	T	0.562444	0.20426	T	0.21921891	0.44448	0.15178046	0.35738	0.21921891	0.44448	0.15178046	0.35737	-2.271	0.04399	T	.	.	0.065	0.02797	B	.;.;.	.;.;.	1.758009	0.22363	15.59	0.93198603592180307	0.22866	0.07939	0.13924	N	AEFDBI	0.146826	0.27037	N	-0.567081933058972	0.19952	1.048188	-0.538306579482932	0.21116	1.140829	0.999990306558255	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.22	3.19	0.35720	-0.011000	0.12659	0.334000	0.17313	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0:0.1182:0.0:0.8818	5.827	0.17812	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3461.33	42	chr22	31125007	.	T	G	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.254;DP=844;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.474;SOR=0.491	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1462	18	0	1	0
chr22	31125008	31125008	G	C	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G269C:p.C90S,INPP5J:NM_001284286:exon3:c.G68C:p.C23S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	0.00339457	0.0016	0.0050	0.0054	0	0	0.0018	0.0032	0.0003	0.0007503	116	154602	rs200731160	0.0008	0.0008	0.0008	0.0008	0.0063	0.0007	0.0007	0.0047	0.0041	0.0019	0.0031	0.0047	2.722e-05	0	0.0063	0.0006	0.0019	0.0002	0.0020	0.0020	0.0020	0.0020	0.0076	0.0018	0.0018	0.0065	0.0061	0.0026	0	0.0076	0.0046	0	0	0.0272	0.0007	0.0047	0.0004	1.0	0.02021	T	1.0	0.03126	T	0.0	0.02946	B	0.0	0.01387	B	0.032437	0.25031	N	0.291605	1	0.08975	N	-0.895	0.01383	N	-4.15	0.96798	D	-0.36	0.66780	N	0.059	0.03069	-0.2156	0.77268	T	0.689	0.89246	D	8	0.004211813	0.00084	T	.	.	.	0.213	0.50496	0.151	0.05441	0.634924397808	0.63193	0.050284078538633245	0.04971	.	.	0.405586212873	0.25845	T	0.123884	0.44855	T	-0.261512	0.12723	T	-0.152724	0.59002	T	0.0059132479024692	0.00065	T	0.466353	0.14239	T	0.049629543	0.08842	0.05643651	0.10084	0.049629543	0.08842	0.05643651	0.10084	0.346	0.00247	T	.	.	0.071	0.04975	B	.;.;.	.;.;.	1.056799	0.14384	10.96	0.7398566883739679	0.10528	0.00199	0.01145	N	AEFDBI	0.026012	0.01879	N	-0.664007444353149	0.17053	0.8742746	-0.65829698980491	0.18007	0.9600743	0.999973128571662	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.22	2.11	0.26299	1.233000	0.32250	3.194000	0.36718	0.676000	0.76740	0.002000	0.15269	0.709000	0.26280	0.997000	0.79791	0.0:0.6402:0.2421:0.1177	5.613	0.16694	624	0.65661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3461.33	42	chr22	31125008	.	G	C	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.475;DP=842;ExcessHet=0;FS=4.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.413;SOR=0.491	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1462	18	0	1	0
chr22	31127015	31127015	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284287:exon4:c.G284A:p.R95H,INPP5J:NM_001002837:exon5:c.G485A:p.R162H,INPP5J:NM_001284285:exon5:c.G1589A:p.R530H,INPP5J:NM_001284286:exon6:c.G1388A:p.R463H,INPP5J:NM_001284288:exon6:c.G488A:p.R163H,INPP5J:NM_001284289:exon7:c.G488A:p.R163H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909	0.330805340665	.	.	3.163e-05	0	0	0	0	5.722e-05	0	0	1.29e-05	2	154602	rs760092310	1.103e-05	2.121e-05	1.096e-05	1.109e-05	2.365e-05	6.53e-06	5.28e-06	5.78e-06	4.57e-06	0	2.308e-05	0	0	0	0	1.084e-05	1.666e-05	2.365e-05	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.68238	D	0.018	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.28	0.90206	M	-3.68	0.95282	D	-3.86	0.73267	D	0.813	0.85238	1.068	0.98528	D	0.925	0.97530	D	10	0.8836218	0.87681	D	0.330805	0.91745	D	0.909	0.97549	0.588	0.71623	0.940745283987	0.94013	0.7685049308428289	0.76799	0.771138556595	0.64768	0.844506025314	0.88782	D	0.274241	0.91716	T	0.464568	0.93121	D	0.429543	0.93035	D	0.988805174827576	0.79093	D	0.976052	0.91638	D	0.5090818	0.67626	0.4711528	0.69336	0.5090818	0.67627	0.4711528	0.69336	-12.085	0.88740	D	.	.	0.684	0.78339	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.762939	0.93440	33	0.9995469974470963	0.99969	0.99488	0.96641	D	AEFDGBI	0.931682	0.92087	D	0.916508432491474	0.92543	11.48482	0.83206453728679	0.91926	11.14202	0.999999999999901	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.26897	0.05253	2	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	9.452000	0.96775	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.028	0.89199	624	0.65661	Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	288.33	40	chr22	31127015	.	G	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.919;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=0.093;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr22	31137022	31137022	C	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon5:c.G1085A:p.R362H	.	419	1101	2	0	0	2	0.000907441	.	.	.	4041386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00945466134853	.	.	9.299e-05	0	0	0	0	0.0001	0	0.0001	4.53e-05	7	154602	rs758319025	6.246e-05	6.909e-05	4.817e-05	7.714e-05	0.0003	5.124e-05	4.787e-05	0.0002	0.0002	0	0.0002	0	0.0001	4.058e-05	0	3.809e-05	0.0002	0.0003	7.885e-05	7.879e-05	8.994e-05	6.724e-05	0.0004	4.497e-05	3.512e-05	6.808e-05	2.85e-05	2.413e-05	0	0.0002	0	0.0004	0	0	8.819e-05	0	0	0.156	0.24090	T	0.229	0.25210	T	0.617	0.39849	P	0.13	0.32896	B	0.179492	0.17142	N	0.615475	0.875636	0.28135	N	2.05	0.56469	M	1.4	0.33630	T	-0.73	0.20576	N	0.242	0.27316	-0.9792	0.35186	T	0.073	0.29419	T	10	0.12198609	0.23134	T	0.009455	0.24763	T	0.055	0.15663	.	.	0.477143196806	0.47344	0.5747708919881857	0.57406	0.110558448003	0.12480	0.314344227314	0.12564	T	0.091672	0.38844	T	-0.414512	0.01856	T	-0.543051	0.17997	T	0.0360759922671068	0.02993	T	0.775622	0.40735	T	0.10756212	0.25435	0.06222285	0.12138	0.10756212	0.25435	0.06222285	0.12138	-6.354	0.49149	T	.	.	0.101	0.17530	B	.	.	2.328545	0.29829	18.25	0.99666848619114168	0.78330	0.67284	0.33377	D	AEFDBI	0.149723	0.27386	N	0.0962969758639186	0.46289	2.871631	0.156649822742096	0.47495	2.978892	0.995772631325026	0.34318	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.62	3.53	0.39533	1.113000	0.30798	-1.360000	0.05625	0.599000	0.40250	0.714000	0.28761	0.000000	0.08366	0.606000	0.31539	0.0:0.8639:0.0:0.1361	10.733	0.45310	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000524	0.000000	0.001408	0.003012	0.000000	0.000000	0.000000	0.000000	0.02632	415.33	35	chr22	31137022	.	C	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=678;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.603;SOR=0.318	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	18	0	1	0
chr22	31137971	31137971	G	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon4:c.C805A:p.P269T	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0137048844717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345579981	6.988e-06	9.577e-06	4.161e-06	9.859e-06	7.419e-05	3.53e-06	2.58e-06	3.161e-05	2.146e-05	0	0	0	0	0	0	1.82e-06	3.385e-05	7.419e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.009	0.66756	D	0.972	0.57405	D	0.647	0.52336	P	0.002315	0.36806	N	0.297905	1	0.08975	N	1.87	0.49600	L	1.56	0.29602	T	-3.68	0.70314	D	0.134	0.13055	-1.0148	0.25400	T	0.087	0.33830	T	10	0.23064637	0.40020	T	0.013705	0.33301	T	0.047	0.12962	0.537	0.64730	0.48763082235	0.48394	0.5920526451223974	0.59135	0.15301633933	0.17264	0.375092297792	0.21560	T	0.354723	0.72183	T	-0.26439	0.12389	T	-0.617555	0.11377	T	0.605766296386719	0.36630	D	0.728327	0.34315	T	0.12729673	0.29793	0.11312512	0.27300	0.12729673	0.29792	0.11312512	0.27300	-7.676	0.58841	D	.	.	0.119	0.24430	B	.	.	1.948332	0.24746	16.51	0.99413877878561763	0.63405	0.05152	0.10965	N	AEFDBI	0.081207	0.16429	N	-0.334812970367355	0.27835	1.530326	-0.511126833826869	0.21851	1.184027	0.998789073676043	0.37667	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	4.96	1.64	0.22949	-0.227000	0.09131	0.622000	0.20140	-0.104000	0.15758	0.000000	0.06391	0.025000	0.21018	0.583000	0.30967	0.1773:0.1491:0.5202:0.1534	2.324	0.03961	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1283.33	33	chr22	31137971	.	G	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.406;DP=1137;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.775;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1335:.	18	0	1	0
chr22	31138294	31138294	G	A	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon3:c.C764T:p.A255V	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00651682838177	0.0068	0.00319489	0.0056	0.0014	0.0021	0	0.0024	0.0081	0.0023	0.0046	0.0059184	915	154602	rs2232177	0.0078	0.0078	0.0080	0.0075	0.0092	0.0076	0.0076	0.0090	0.0090	0.0012	0.0021	0.0010	5.038e-05	0.0026	0.0009	0.0092	0.0067	0.0048	0.0058	0.0058	0.0061	0.0055	0.0100	0.0055	0.0054	0.0094	0.0092	0.0015	0	0.0046	0.0020	0.0004	0.0032	0.0034	0.0100	0.0043	0.0041	0.045	0.40832	D	0.05	0.48080	T	0.955	0.54515	P	0.207	0.37187	B	0.075601	0.21214	N	0.517109	0.786953	0.29269	N	1.445	0.36358	L	1.52	0.30669	T	-1.44	0.35399	N	0.155	0.16028	-1.0128	0.26038	T	0.034	0.14726	T	10	0.007147819	0.00162	T	0.006517	0.17186	T	0.086	0.25016	.	.	0.402755899245	0.39889	0.5308558618046946	0.53009	0.0701697219036	0.07856	0.32299259305	0.13875	T	0.060158	0.31311	T	-0.594545	0.00157	T	-0.613826	0.11677	T	0.0244192230305814	0.01198	T	0.673133	0.28166	T	0.06705507	0.14487	0.08862533	0.20676	0.06705507	0.14486	0.08862533	0.20676	-2.169	0.03892	T	.	.	0.134	0.29172	B	.	.	2.326465	0.29799	18.24	0.99766298073616921	0.85500	0.54839	0.29715	D	AEFDGBI	0.298124	0.40753	N	-0.158912706399447	0.34856	1.994954	-0.222344496598955	0.30737	1.733233	0.999773503619151	0.42865	0.645754	0.44609	0	0.547309	0.14657	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.4	-2.0	0.07024	0.231000	0.17651	0.599000	0.19904	0.676000	0.76740	0.002000	0.15269	0.108000	0.22760	0.999000	0.91618	0.0715:0.0881:0.1761:0.6643	6.978	0.23866	624	0.65661	.	.	.	.	.	rs2232177	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	4222.83	45	chr22	31138294	.	G	A	4222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.98;DP=999;ExcessHet=0.119;FS=8.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.47;SOR=1.086	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	17	0	2	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.02632	733.33	33	chr22	31140088	.	A	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.08;DP=890;ExcessHet=0;FS=3.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.246;SOR=0.289	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	18	0	1	0
chr22	31278338	31278338	C	G	exonic	LIMK2	.	nonsynonymous SNV	LIMK2:NM_016733:exon15:c.C1751G:p.S584C,LIMK2:NM_005569:exon16:c.C1814G:p.S605C	.	430	1023	68	1	0	70	0.0330813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	.	0.0017	0.00878594	0.0065	0.0003	0.0019	0	0	0.0024	0.0143	0.0362	0.005692	880	154602	rs149034313	0.0038	0.0038	0.0026	0.0050	0.0398	0.0037	0.0037	0.0387	0.0382	0.0003	0.0021	0.0071	7.559e-05	0.0001	0.0186	0.0013	0.0050	0.0398	0.0027	0.0027	0.0020	0.0035	0.0402	0.0025	0.0024	0.0356	0.0338	0.0003	0.0164	0.0015	0.0058	0.0004	0.0003	0.0068	0.0021	0.0009	0.0402	0.197	0.20607	T	0.187	0.28958	T	0.022	0.18677	B	0.013	0.16460	B	.	.	.	.	0.999985	0.54805	D	1.43	0.35840	L	-0.77	0.74159	T	-1.68	0.40082	N	0.238	0.26837	-0.7407	0.58417	T	0.214	0.57534	T	9	0.00640589	0.00145	T	.	.	.	0.293	0.61272	.	.	0.767527963459	0.76540	.	.	.	.	0.733979284763	0.72088	T	0.189817	0.54416	T	-0.169951	0.25242	T	0.0116689	0.71090	D	0.00956897639317594	0.00124	T	0.842116	0.51841	T	0.36026892	0.57856	0.23908885	0.49249	0.36026892	0.57856	0.23908885	0.49248	-3.107	0.12141	T	.	.	0.080	0.13268	B	.;.	.;.	3.878222	0.56346	23.7	0.93430628976839147	0.23203	0.95887	0.66581	D	AEFDBCI	0.627937	0.61021	D	-0.0227562125604786	0.40826	2.431309	0.166144907164052	0.48005	3.022314	0.999999999994077	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	5.37	0.76949	4.563000	0.60539	6.100000	0.53542	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.091	0.89404	401	0.82673	Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.010101	0.009511	0.008772	0.000000	0.034483	0.039634	0.041667	0.02632	906.33	34	chr22	31278338	.	C	G	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=701;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.7;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	18	0	1	0
chr22	31291079	31291079	C	T	exonic	PIK3IP1	.	nonsynonymous SNV	PIK3IP1:NM_001135911:exon3:c.G193A:p.G65S,PIK3IP1:NM_052880:exon3:c.G193A:p.G65S	.	431	1030	55	6	0	67	0.0314998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	.	0.0007	0.00439297	0.0091	0	0.0080	0.0036	0	0.0055	0	0.0156	0.0026002	402	154602	rs202173016	0.0026	0.0026	0.0022	0.0031	0.0222	0.0026	0.0025	0.0190	0.0178	0.0004	0.0034	0.0047	0.0051	0.0002	0.0222	0.0015	0.0033	0.0160	0.0023	0.0023	0.0021	0.0026	0.0155	0.0021	0.0020	0.0127	0.0117	0.0003	0	0.0022	0.0043	0.0074	0	0.0342	0.0024	0.0047	0.0155	0.004	0.91255	D	0.051	0.52727	T	0.98	0.90584	D	0.611	0.65091	P	0.000104	0.50451	D	0.175513	0.999974	0.81001	D	3.02	0.86243	M	-0.17	0.65563	T	-4.07	0.76496	D	0.215	0.32370	-0.0334	0.81558	T	0.384	0.73973	T	10	0.009329677	0.00211	T	.	.	.	0.403	0.71636	.	.	0.749776601627	0.74751	0.7603611679632968	0.75984	0.382706904123	0.39604	0.650790691376	0.60097	T	0.115178	0.43357	T	-0.285853	0.10055	T	-0.17106	0.57346	T	0.0466222905835135	0.04897	T	0.781022	0.42156	T	0.3876658	0.59866	0.40144095	0.64653	0.3876658	0.59866	0.40144095	0.64653	-7.248	0.55825	T	.	.	0.114	0.27343	B	.;.;.;.	.;.;.;.	3.757563	0.53892	23.4	0.99806655210183426	0.89085	0.95870	0.66508	D	ALL	0.327645	0.42855	N	0.545197202699587	0.69791	5.407308	0.438971757169375	0.64013	4.646895	1.0	0.98316	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	4.69	4.69	0.58546	2.870000	0.48150	0.775000	0.21430	0.549000	0.26987	0.988000	0.36536	0.214000	0.23665	0.544000	0.30032	0.0:1.0:0.0:0.0	15.260	0.73313	293	0.88320	Kringle|Kringle|Kringle|Kringle;.;.;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024352	0.015957	0.013774	0.027108	0.000000	0.035088	0.044872	0.032000	0.02632	1296.33	101	chr22	31291079	.	C	T	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=769;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.466;SOR=0.502	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1138	18	0	1	0
chr22	31440757	31440757	C	T	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon16:c.G2141A:p.R714H,EIF4ENIF1:NM_001164501:exon18:c.G2663A:p.R888H,EIF4ENIF1:NM_019843:exon18:c.G2663A:p.R888H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0245974050217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985667032	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0001	1.584e-05	1.356e-05	4.358e-05	2.767e-05	2.988e-05	0.0001	0	7.557e-05	0	0	1.619e-05	4.969e-05	2.319e-05	4.601e-05	4.597e-05	3.855e-05	5.382e-05	0.0001	2.11e-05	1.527e-05	2.263e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.013	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	2.25	0.63811	M	.	.	.	-1.49	0.36385	N	0.5	0.53269	-0.3852	0.72491	T	0.384	0.74017	T	9	0.26955372	0.44481	T	0.024597	0.47587	T	0.153	0.40148	0.219	0.14078	0.481781477641	0.47810	0.530195568244248	0.52943	0.70105398773	0.61125	0.563114583492	0.47706	T	0.285089	0.65787	T	-0.106239	0.35392	T	-0.135336	0.60520	T	0.468068420886993	0.31460	T	0.949805	0.80758	D	0.39580792	0.60441	0.24225852	0.49643	0.39580792	0.60441	0.24225852	0.49642	-4.066	0.24787	T	.	.	0.119	0.30423	B	.;.;.;.	.;.;.;.	5.191224	0.87067	29.1	0.99925798004271804	0.99042	0.91627	0.53923	D	AEFDBCI	0.526702	0.54895	D	0.567701735559261	0.71164	5.609763	0.605033290165779	0.75304	6.287037	0.999971750470367	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	4.86	0.62624	4.532000	0.60321	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9289:0.0:0.0711	14.555	0.67688	493	0.76500	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1703.33	35	chr22	31440757	.	C	T	1703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=776;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.536;SOR=1.045	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	18	0	1	0
chr22	31444652	31444652	C	T	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon13:c.G1505A:p.R502Q,EIF4ENIF1:NM_001164501:exon15:c.G2027A:p.R676Q,EIF4ENIF1:NM_019843:exon15:c.G2027A:p.R676Q	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0041	0.00239617	0.0072	0.0002	0.0013	0.0002	0.0293	0.0083	0.0077	0.0059	0.0063712	985	154602	rs146239944	0.0055	0.0055	0.0052	0.0058	0.0062	0.0054	0.0054	0.0058	0.0056	0.0003	0.0008	0.0029	0.0001	0.0268	0.0007	0.0051	0.0046	0.0062	0.0055	0.0055	0.0049	0.0061	0.0067	0.0052	0.0051	0.0062	0.0060	0.0004	0	0.0016	0.0035	0.0002	0.0276	0.0034	0.0067	0.0047	0.0039	0.202	0.25560	T	0.312	0.19599	T	0.035	0.20614	B	0.022	0.19653	B	0.012950	0.29001	N	0.382752	0.70273	0.30088	N	2.3	0.65703	M	.	.	.	0.29	0.35399	N	0.193	0.21188	-0.9719	0.36798	T	0.088	0.33885	T	9	0.005677432	0.00126	T	.	.	.	0.148	0.39182	.	.	0.313793572803	0.30980	0.1748990094302116	0.17408	0.165782956419	0.18709	0.34746915102	0.17550	T	0.243063	0.61193	T	-0.388087	0.02767	T	-0.319848	0.42592	T	0.0159332456509325	0.00377	T	0.863714	0.58094	D	0.040582176	0.05820	0.03928158	0.03985	0.040582176	0.05820	0.03928158	0.03984	-4.586	0.31995	T	.	.	0.077	0.08851	B	.;.;.;.;.	.;.;.;.;.	2.681858	0.34985	19.78	0.9977752859230673	0.86433	0.78271	0.38591	D	AEFDBI	0.073720	0.14755	N	-0.330905191922289	0.27980	1.539536	-0.209298282662347	0.31201	1.763581	0.0395666031305659	0.14400	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	2.5	0.29355	2.219000	0.42540	2.206000	0.31328	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7362:0.0:0.2638	8.097	0.29994	419	0.81524	.;.;.;.;.	.	.	.	.	rs146239944	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.018939	0.02632	1428.33	33	chr22	31444652	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.666;SOR=0.787	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	18	0	1	0
chr22	31623755	31623755	C	T	exonic	PISD	.	nonsynonymous SNV	PISD:NM_001326413:exon3:c.G187A:p.V63I,PISD:NM_178022:exon3:c.G148A:p.V50I,PISD:NM_001326414:exon4:c.G187A:p.V63I,PISD:NM_001326415:exon4:c.G148A:p.V50I,PISD:NM_014338:exon4:c.G148A:p.V50I,PISD:NM_001326417:exon5:c.G148A:p.V50I,PISD:NM_001326419:exon5:c.G148A:p.V50I,PISD:NM_001326416:exon6:c.G148A:p.V50I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00179712	0.0008	0.0002	0	0.0101	0	0	0	0.0001	0.0006468	100	154602	rs183406976	0.0002	0.0002	0.0002	0.0002	0.0048	0.0002	0.0001	0.0042	0.0040	5.974e-05	0.0001	3.827e-05	0.0048	0	0	1.439e-05	0.0005	8.115e-05	0.0003	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0053	0.0047	7.212e-05	0	0.0003	0	0.0071	0	0	0	0.0005	0	0.925	0.02279	T	1.0	0.02610	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.0	0.08653	N	0.236	0.29889	-0.9918	0.32141	T	0.022	0.09193	T	8	0.007530123	0.00171	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	.	.	0.244522584449	0.26956	0.463088840246	0.33734	T	0.008654	0.07935	T	-0.47849	0.00755	T	-0.452133	0.27460	T	0.00335267733157267	0.00035	T	0.775222	0.42574	T	.	.	.	.	.	.	.	.	-4.851	0.35179	T	.	.	0.075	0.08081	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.792786	0.36715	20.3	0.56868722894971502	0.05645	0.61099	0.31386	D	AEFDBHCI	0.054837	0.10004	N	-0.709309543336589	0.15760	0.7970521	-0.514523066019	0.21758	1.178587	0.999965917621821	0.48965	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.636168	0.56350	0	.	.	5.61	1.48	0.21900	1.581000	0.36167	2.121000	0.30720	0.549000	0.26987	0.935000	0.32453	0.983000	0.30585	0.975000	0.56047	0.0:0.3587:0.0:0.6413	6.268	0.20148	118	0.95237	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	35	chr22	31623755	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=725;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.678;SOR=0.479	GT:AD:DP:GQ:PL	0/1:53,35:88:99:954,0,1363	18	0	1	0
chr22	31713314	31713314	C	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G4525T:p.A1509S	.	430	1082	9	1	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0101	0.00958466	0.0054	0.0292	0.0047	0	0	0.0005	0	0.0058	0.0013389	207	154602	rs111610929	0.0014	0.0013	0.0013	0.0015	0.0247	0.0013	0.0013	0.0232	0.0226	0.0247	0.0015	0	0	0	0.0040	0.0003	0.0029	0.0074	0.0080	0.0081	0.0082	0.0078	0.0263	0.0077	0.0075	0.0250	0.0244	0.0263	0	0.0031	0.0003	0	0	0.0102	0.0004	0.0062	0.0083	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.003780	0.34511	N	0.128239	0.756551	0.29583	N	2.32	0.66415	M	2.82	0.10871	T	-1.73	0.41046	N	0.407	0.44761	-1.1852	0.00299	T	0.023	0.09696	T	9	0.00902009	0.00204	T	.	.	.	0.069	0.20116	.	.	0.134007934775	0.12933	0.08820599583679595	0.08753	0.387473203465	0.40026	0.281805515289	0.07745	T	0.047676	0.27794	T	-0.463528	0.00934	T	-0.417653	0.31345	T	0.00904196432076067	0.00113	T	0.723028	0.33655	T	0.14800593	0.33809	0.11590867	0.27980	0.14800593	0.33808	0.11590867	0.27979	-2.573	0.06300	T	.	.	0.157	0.34732	B	.	.	3.449361	0.48019	22.5	0.99779304795779566	0.86606	0.95350	0.64378	D	AEFBI	0.344382	0.43989	N	0.536973374759774	0.69291	5.336347	0.511429054504697	0.68756	5.264476	0.50359479843835	0.20963	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.59	4.37	0.51830	3.281000	0.51389	3.239000	0.36954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.9094:0.0:0.0906	12.622	0.55964	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007246	0.010526	0.000000	0.000000	0.000000	0.000000	0.017442	0.011905	0.02632	2920.33	123	chr22	31713314	.	C	A	2920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=1025;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-1.202;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr22	31714388	31714388	A	G	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.T3451C:p.S1151P	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0120	0.0105831	0.0057	0.0310	0.0049	0	0	0.0006	0	0.0064	0.001423	220	154602	rs12159328	0.0015	0.0014	0.0014	0.0016	0.0286	0.0014	0.0014	0.0270	0.0264	0.0286	0.0016	0	0	0	0.0044	0.0003	0.0032	0.0077	0.0092	0.0092	0.0094	0.0090	0.0300	0.0088	0.0086	0.0286	0.0280	0.0300	0	0.0041	0.0003	0	0	0.0102	0.0004	0.0080	0.0083	0.094	0.31383	T	0.115	0.36630	T	0.412	0.35138	B	0.104	0.31021	B	0.387181	0.13307	N	0.686177	0.999999	0.08975	N	0.63	0.15941	N	2.71	0.12055	T	-2.19	0.49352	N	0.102	0.08506	-1.0105	0.26760	T	0.007	0.02439	T	9	0.0026658177	0.00041	T	.	.	.	0.018	0.03083	.	.	0.0675242888579	0.06100	0.27087145557327946	0.27000	0.0854793780599	0.09655	0.24475556612	0.03235	T	0.006211	0.05647	T	-0.681484	0.00047	T	-0.728684	0.04387	T	0.011733405300201	0.00180	T	0.575442	0.20674	T	0.25402394	0.48428	0.33928657	0.59696	0.25402394	0.48428	0.33928657	0.59695	-4.681	0.33173	T	.	.	0.123	0.25882	B	.	.	1.319620	0.17233	13.04	0.96391652609380274	0.29654	0.08541	0.14456	N	AEFBI	0.087770	0.17795	N	-0.715137179691489	0.15596	0.7873753	-0.777503103524036	0.15046	0.7894075	0.0681237174698843	0.15448	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.52	2.25	0.27340	0.014000	0.13228	2.149000	0.30898	0.665000	0.62972	0.000000	0.06391	0.254000	0.23938	0.063000	0.16184	0.7461:0.0:0.2539:0.0	7.412	0.26196	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007444	0.010638	0.000000	0.000000	0.000000	0.000000	0.011765	0.012821	0.02632	2534.33	104	chr22	31714388	.	A	G	2534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=1200;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.068;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr22	31715032	31715032	G	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.C2807T:p.P936L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.259640056722	.	.	4.453e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs751612986	6.431e-06	6.156e-06	4.23e-06	8.692e-06	5.048e-05	3.03e-06	2.19e-06	1.678e-05	9.94e-06	0	0	0	0	0	0	4.634e-06	0	5.048e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	1.0	0.90584	D	1.0	0.97372	D	0.000085	0.51296	D	0.000000	0.999974	0.58761	D	2.175	0.60977	M	1.44	0.32722	T	-5.15	0.83357	D	0.204	0.22614	-0.8532	0.51746	T	0.199	0.55400	T	9	0.27083766	0.44618	T	0.25964	0.89454	D	0.271	0.58633	0.472	0.54699	0.102598925029	0.09809	0.35508517343502455	0.35422	0.408351417736	0.41678	0.376370131969	0.21742	T	0.069284	0.33671	T	-0.10844	0.35027	T	-0.265765	0.48246	T	0.981076836585999	0.73707	D	0.711829	0.32321	T	0.5741625	0.71288	0.63400996	0.78639	0.5741625	0.71289	0.63400996	0.78640	-3.119	0.11516	T	.	.	0.131	0.28057	B	.	.	3.641002	0.51624	23.1	0.99869586562415491	0.94726	0.78003	0.38422	D	AEFBCI	0.219039	0.34397	N	0.480161038690342	0.65932	4.885204	0.436748409861556	0.63871	4.629633	0.999999157362227	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.692231	0.68500	0	.	.	5.42	5.42	0.78666	2.964000	0.48885	7.573000	0.60761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	15.971	0.79815	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2797.33	104	chr22	31715032	.	G	A	2797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=1201;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.152;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr22	31716880	31716880	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A959G:p.N320S	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0123	0.0105831	0.0058	0.0317	0.0048	0	0	0.0005	0	0.0064	0.0014618	226	154602	rs75240208	0.0015	0.0015	0.0014	0.0016	0.0294	0.0015	0.0014	0.0278	0.0272	0.0294	0.0016	0	2.798e-05	0	0.0044	0.0003	0.0032	0.0077	0.0095	0.0095	0.0097	0.0092	0.0310	0.0091	0.0089	0.0296	0.0291	0.0310	0	0.0041	0.0003	0	0	0.0103	0.0004	0.0080	0.0085	0.151	0.24564	T	0.506	0.10967	T	0.008	0.14655	B	0.007	0.12992	B	0.587213	0.05570	N	1.231740	1	0.08975	N	1.1	0.28011	L	3.43	0.05440	T	-1.14	0.29323	N	0.084	0.06059	-0.9249	0.44872	T	0.003	0.00897	T	10	0.003006637	0.00049	T	.	.	.	0.059	0.16972	.	.	0.110392049598	0.10638	0.025821391941460544	0.02533	0.0632696166235	0.07043	0.194682449102	0.00319	T	0.002393	0.01788	T	-0.726004	0.00025	T	-0.791946	0.02111	T	0.00930232295976571	0.00118	T	0.561544	0.19673	T	0.031043293	0.02873	0.027864954	0.00973	0.031043293	0.02873	0.027864954	0.00973	-2.144	0.03778	T	.	.	0.082	0.08657	B	.	.	-0.699063	0.01322	0.072	0.22428123338613901	0.00902	0.16723	0.19519	N	AEFBI	0.069732	0.13816	N	-1.10839004960357	0.06493	0.29905	-1.14242549578103	0.06905	0.3339699	0.0531273631071764	0.14928	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	-1.57	0.08055	-0.140000	0.10323	-0.121000	0.11721	0.665000	0.62972	0.011000	0.18532	0.000000	0.08366	0.066000	0.16387	0.1294:0.2579:0.13:0.4827	1.694	0.02686	156	0.93906	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007371	0.010638	0.000000	0.000000	0.000000	0.000000	0.011628	0.012500	0.02632	2831.33	158	chr22	31716880	.	T	C	2831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.23;DP=991;ExcessHet=0;FS=3.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.55;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	18	0	1	0
chr22	32043316	32043316	C	T	exonic	SLC5A1	.	nonsynonymous SNV	SLC5A1:NM_000343:exon1:c.C35T:p.A12V	Glucose/galactose malabsorption, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	493545	not_provided|not_specified|Congenital_glucose-galactose_malabsorption	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.0850892988681	0.0007	0.000399361	0.0010	9.812e-05	0.0003	0	0	0.0014	0.0023	0.0009	0.0008667	134	154602	rs150288967	0.0006	0.0006	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0008	8.961e-05	0.0004	0.0145	2.519e-05	0	0.0016	0.0003	0.0014	0.0010	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0008	0.0006	4.81e-05	0	0.0012	0.0199	0	9.409e-05	0.0068	0.0006	0.0024	0.0008	0.061	0.37118	T	0.406	0.14725	T	0.001	0.07471	B	0.001	0.04355	B	0.098823	0.02528	N	1.733900	1	0.08975	N	1.905	0.50856	L	-2.06	0.85875	D	-1.46	0.35792	N	0.061	0.03283	-0.7007	0.60404	T	0.465	0.79317	T	10	0.004654914	0.00097	T	0.085089	0.74461	D	0.505	0.78662	.	.	0.747006263103	0.74472	0.266694549339179	0.26582	0.463755388892	0.45870	0.317358285189	0.13020	T	0.090024	0.38498	T	-0.18738	0.22644	T	-0.0982831	0.63530	T	0.0174199961141006	0.00479	T	0.330167	0.06908	T	0.0670848	0.14496	0.11304056	0.27278	0.058023643	0.11621	0.14435951	0.34274	-3.989	0.23639	T	.	.	0.085	0.10352	B	.	.	1.013699	0.13930	10.49	0.99136788943025422	0.53410	0.08302	0.14249	N	AEFDBHCI	0.094886	0.19179	N	-0.763499697619612	0.14269	0.7094192	-0.767030968859746	0.15305	0.8042273	0.953056415919183	0.28052	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	3.73	0.41982	1.107000	0.30724	-0.250000	0.10515	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.897:0.0:0.103	8.748	0.33760	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1158.33	35	chr22	32043316	.	C	T	1158.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.218;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.482;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	18	0	1	0
chr22	32149774	32149774	C	T	exonic	C22orf42	.	nonsynonymous SNV	C22orf42:NM_001010859:exon8:c.G661A:p.E221K	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00436476488049	.	0.000399361	0.0007	0	0	0	0	4.771e-05	0	0.0059	0.0005692	88	154602	rs563830942	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0040	0.0038	0	3.368e-05	0	0	0	0.0008	4.476e-05	0.0002	0.0044	0.0002	0.0002	9.04e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	6.591e-05	0	0	0	0	7.365e-05	0	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	0	0.06538	N	1.81	0.25182	T	-1.35	0.33598	N	0.124	0.11626	-1.0060	0.28156	T	0.038	0.16333	T	7	0.005237311	0.00114	T	0.004365	0.10624	T	0.058	0.16647	0.257	0.19845	0.0482279557977	0.04254	0.02560558606038604	0.02511	0.150402291705	0.16965	.	.	.	0.010547	0.09515	T	-0.634414	0.00090	T	-0.683528	0.06771	T	0.470752596855164	0.31558	T	.	.	.	0.10578363	0.25011	0.14824407	0.35050	0.10578363	0.25011	0.14824407	0.35049	-3.135	0.11703	T	.	.	0.206	0.43172	B	.	.	0.166358	0.05559	2.018	0.84110661042996693	0.15103	0.00334	0.01740	N	AEFI	0.036261	0.04805	N	-0.967770315542001	0.09298	0.4394741	-1.16080912236072	0.06576	0.3169771	6.34272039487377E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	-0.879000	0.04296	-6.766000	0.01312	-1.806000	0.00618	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	241	0.90582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1157.33	34	chr22	32149774	.	C	T	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.392;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.95;MQRankSum=1.47;QD=14.47;ReadPosRankSum=1.39;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1175	18	0	1	0
chr22	32221015	32221015	C	T	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon14:c.G1673A:p.R558H	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	.	0.0020	0.00938498	0.0055	0.0018	0.0024	0.0227	0.0015	0.0019	0.0078	0.0170	0.0051358	794	154602	rs74530943	0.0030	0.0031	0.0027	0.0034	0.0151	0.0030	0.0029	0.0144	0.0141	0.0022	0.0013	0.0001	0.0119	0.0012	0.0023	0.0020	0.0032	0.0151	0.0034	0.0034	0.0030	0.0037	0.0195	0.0031	0.0030	0.0163	0.0151	0.0022	0	0.0009	0	0.0185	0.0012	0	0.0029	0.0028	0.0195	0.067	0.35918	T	0.062	0.45318	T	0.396	0.34753	B	0.077	0.28532	B	0.000003	0.62929	D	0.060319	0.999979	0.53665	D	3.795	0.95366	H	-1.54	0.81640	D	-4.39	0.77225	D	0.415	0.45520	-0.2754	0.75665	T	0.360	0.72178	T	10	0.011101097	0.00244	T	.	.	.	0.369	0.68844	.	.	0.667061428616	0.66425	0.3824672367122118	0.38161	0.709260744387	0.61606	0.340156078339	0.16462	T	0.135292	0.46703	T	-0.335446	0.05709	T	-0.232309	0.51547	T	0.118817867007295	0.14315	T	0.971703	0.89738	D	0.22683	0.45372	0.19507827	0.43165	0.22683	0.45372	0.19507827	0.43164	-8.267	0.62875	D	.	.	0.154	0.34004	B	.	.	3.944963	0.57750	23.9	0.99325729805332119	0.59584	0.93370	0.58035	D	AEFBI	0.610881	0.59954	D	-0.0488394912627333	0.39654	2.341997	-0.0668980013888442	0.36767	2.143983	0.999553041317539	0.40362	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.48	0.38946	4.507000	0.60155	3.222000	0.36859	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9026:0.0:0.0974	10.191	0.42202	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.07895	3773.77	34	chr22	32221015	.	C	T	3773.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.535;DP=750;ExcessHet=0;FS=1.675;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.44;ReadPosRankSum=0.617;SOR=0.536	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1073,0,664	17	1	1	0
chr22	32234959	32234959	G	A	exonic	SLC5A4	.	stopgain	SLC5A4:NM_014227:exon8:c.C799T:p.R267X	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0081869	0.0038	0.0004	0.0003	0.0224	0.0002	5.994e-05	0.0044	0.0151	0.0034023	526	154602	rs76877500	0.0013	0.0013	0.0009	0.0016	0.0135	0.0012	0.0012	0.0128	0.0126	0.0005	6.708e-05	0	0.0119	0	0.0009	4.317e-05	0.0022	0.0135	0.0014	0.0014	0.0010	0.0017	0.0189	0.0012	0.0011	0.0159	0.0148	0.0002	0	0.0002	0	0.0189	0	0	0.0001	0.0005	0.0177	.	.	.	.	.	.	.	.	.	.	.	.	0.000009	0.62929	D	0.110194	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.46274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255348	0.79099	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672116	0.97866	38	0.99807635491410829	0.89174	0.93192	0.57565	D	AEFBI	0.178140	0.30540	N	0.676177170133138	0.78071	6.798408	0.49250172737987	0.67493	5.091283	0.366719979810446	0.19830	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	3.525000	0.53257	2.863000	0.35215	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.516000	0.29383	0.0:0.0:1.0:0.0	15.652	0.76863	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1259.33	37	chr22	32234959	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=770;ExcessHet=0;FS=2.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.713;SOR=0.518	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1273,0,1664	18	0	1	0
chr22	32358392	32358392	G	C	exonic	RFPL3	.	nonsynonymous SNV	RFPL3:NM_001098535:exon1:c.G321C:p.E107D,RFPL3:NM_006604:exon2:c.G234C:p.E78D	.	429	1091	2	0	0	2	0.000915751	.	.	.	2260388	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0026306457832	0.0010	.	0.0007	9.619e-05	0.0003	0	0.0002	0.0011	0	0.0003	0.000608	94	154602	rs147326673	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	2.987e-05	0.0002	0	0	0.0002	0.0005	0.0011	0.0005	0.0005	0.0005	0.0005	0.0005	0.0006	0.0009	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0004	0	0	9.414e-05	0.0034	0.0009	0	0	0.04	0.42199	D	0.206	0.28032	T	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	0.999918	0.20516	N	2.47	0.71715	M	0.68	0.51952	T	-1.81	0.42575	N	0.071	0.05414	-0.9258	0.44744	T	0.216	0.57771	T	8	0.052455455	0.05283	T	0.002631	0.05349	T	0.049	0.13647	0.349	0.34598	0.648878273322	0.64596	0.34254046336170835	0.34167	0.699950383056	0.61075	0.530347406864	0.43084	T	0.003521	0.02930	T	-0.476696	0.00774	T	-0.503069	0.22029	T	0.973722517490387	0.70213	D	0.791621	0.43272	T	0.319691	0.54614	0.22696772	0.47692	0.319691	0.54614	0.22696772	0.47691	-5.636	0.43120	T	.	.	0.410	0.62970	A	.;.	.;.	1.633955	0.20861	14.94	0.99713827131844868	0.81563	0.12083	0.17049	N	AEFDI	0.049792	0.08637	N	-0.215393852574871	0.32502	1.833655	-0.475228986796375	0.22838	1.242484	0.0024935129583678	0.09478	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	0.664	0.664	0.17060	0.297000	0.18856	-0.099000	0.11964	0.301000	0.18947	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	.	.	.	558	0.71484	.;RDM domain, Ret finger protein-like|B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2319.33	39	chr22	32358392	.	G	C	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.634;DP=927;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.961;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	18	0	1	0
chr22	32419367	32419367	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon12:c.A1255G:p.I419V	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00264502753675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.07	0.43721	T	0.454	0.36182	P	0.334	0.42203	B	0.009372	0.30392	N	0.336093	1	0.08975	N	2.825	0.82220	M	3.19	0.07353	T	-0.8	0.22078	N	0.22	0.25989	-1.0495	0.14537	T	0.029	0.12541	T	10	0.14368019	0.27276	T	0.002645	0.05377	T	0.064	0.18567	0.604	0.73586	0.238705975628	0.23479	0.4914839234327179	0.49069	0.0606122278648	0.06739	0.359556913376	0.19320	T	0.001742	0.01167	T	-0.22506	0.17308	T	-0.561059	0.16279	T	0.404847860336304	0.29124	T	0.618838	0.23746	T	0.091196485	0.21363	0.08777312	0.20425	0.091196485	0.21363	0.08777312	0.20424	-4.118	0.25555	T	.	.	0.079	0.09917	B	.;.;.	.;.;.	0.881851	0.12550	9.079	0.97852554256670732	0.36405	0.13506	0.17894	N	AEFBI	0.061003	0.11631	N	-0.334492535983296	0.27845	1.531075	-0.391641344099783	0.25245	1.38716	0.0108999405668081	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.87	2.61	0.30255	0.219000	0.17426	0.854000	0.22166	-0.177000	0.10537	0.217000	0.24502	0.007000	0.19602	0.974000	0.55675	0.0:0.0972:0.1795:0.7232	5.192	0.14540	610	0.67008	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	592.33	34	chr22	32419367	.	T	C	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.726;DP=650;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.801;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	18	0	1	0
chr22	32518325	32518325	C	T	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_001135774:exon13:c.G1325A:p.R442H,SYN3:NM_001369907:exon13:c.G1328A:p.R443H,SYN3:NM_001369908:exon13:c.G1328A:p.R443H,SYN3:NM_001369909:exon13:c.G1325A:p.R442H,SYN3:NM_001369910:exon13:c.G1325A:p.R442H,SYN3:NM_003490:exon13:c.G1328A:p.R443H	.	419	1093	9	1	0	11	0.00500683	.	.	.	717414	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.094	0.0087030977404	0.0062	0.00219649	0.0060	0.0018	0.0018	0.0001	0.0077	0.0080	0.0045	0.0056	0.0057891	895	154602	rs150768274	0.0063	0.0063	0.0061	0.0064	0.0075	0.0061	0.0061	0.0066	0.0065	0.0009	0.0030	0.0112	5.043e-05	0.0063	0.0075	0.0067	0.0066	0.0053	0.0056	0.0056	0.0054	0.0058	0.0082	0.0052	0.0051	0.0077	0.0074	0.0014	0	0.0048	0.0107	0.0004	0.0074	0.0068	0.0082	0.0076	0.0038	0.073	0.34800	T	0.12	0.36101	T	0.999	0.77913	D	0.869	0.61749	P	0.009162	0.30485	N	0.345538	0.998636	0.45197	D	2.045	0.56016	M	1.49	0.31470	T	-1.47	0.35991	N	0.517	0.54757	-1.0665	0.10200	T	0.074	0.29897	T	10	0.006853074	0.00156	T	0.008703	0.22976	T	0.094	0.27141	.	.	0.318133320967	0.31420	0.14561265996536915	0.14484	0.236893192368	0.26229	0.543343961239	0.44918	T	0.13947	0.47351	T	-0.356176	0.04351	T	-0.276437	0.47167	T	0.00908752332119205	0.00114	T	0.868313	0.59504	D	0.12555651	0.29431	0.061449558	0.11867	0.10187971	0.24067	0.061449558	0.11867	-4.249	0.27455	T	.	.	0.16	0.35372	B	.;.	.;.	3.770547	0.54161	23.5	0.99640675561552461	0.76633	0.94447	0.61195	D	AEFBI	0.537449	0.55525	D	0.586411051915731	0.72326	5.788126	0.594409636385116	0.74538	6.154089	0.0373536526606195	0.14293	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.66	4.6	0.56512	3.254000	0.51178	4.796000	0.44934	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.871:0.129:0.0	16.694	0.85189	619	0.66147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.002924	0.050000	0.008621	0.006098	0.011364	0.02632	695.33	37	chr22	32518325	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.862;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	18	0	1	0
chr22	32527932	32527932	C	T	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_133633:exon11:c.G1304A:p.R435H,SYN3:NM_001135774:exon12:c.G1301A:p.R434H,SYN3:NM_001369907:exon12:c.G1304A:p.R435H,SYN3:NM_001369908:exon12:c.G1304A:p.R435H,SYN3:NM_001369909:exon12:c.G1301A:p.R434H,SYN3:NM_001369910:exon12:c.G1301A:p.R434H,SYN3:NM_003490:exon12:c.G1304A:p.R435H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0179804660117	0.0005	0.000199681	0.0006	0.0002	0.0003	0	0	0.0011	0.0059	0	0.0003105	48	154602	rs199645736	0.0008	0.0008	0.0008	0.0007	0.0010	0.0007	0.0007	0.0009	0.0009	3.037e-05	0.0002	0	0	1.941e-05	0.0009	0.0010	0.0005	0	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0002	0	0	0	0	0.0008	0	0	0.011	0.78490	D	0.039	0.51112	D	0.48	0.36739	P	0.03	0.21741	B	0.002824	0.35868	N	0.236256	0.996875	0.43474	D	2.395	0.69210	M	1.35	0.37405	T	-2.31	0.78472	N	0.474	0.50958	-0.9614	0.38916	T	0.085	0.33014	T	10	0.04774937	0.04134	T	0.01798	0.39885	T	0.111	0.31313	.	.	0.324576393752	0.32066	0.20805776001510187	0.20721	0.236893192368	0.26229	0.555180847645	0.46587	T	0.456618	0.79531	T	-0.317582	0.07098	T	-0.318116	0.42782	T	0.213563963770866	0.21138	T	0.929907	0.74113	D	0.10419879	0.24632	0.09019874	0.21137	0.10419879	0.24631	0.09019874	0.21137	-5.023	0.37089	T	.	.	0.240	0.48376	B	.;.;.	.;.;.	4.830232	0.78760	27.0	0.99699052029150781	0.80522	0.53571	0.29404	D	AEFDBHCI	0.190870	0.31809	N	0.141825611936674	0.48424	3.054974	0.196547489142893	0.49658	3.166322	0.999901014495432	0.45458	0.626454	0.40138	0	0.478664	0.06816	1	0.80507	0.99327	0	0.542086	0.14980	0	.	.	4.67	3.62	0.40616	3.090000	0.49888	4.778000	0.44817	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.656000	0.32857	0.0:0.8956:0.0:0.1044	8.957	0.34986	632	0.64850	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	33	chr22	32527932	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.655;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.244;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	18	0	1	0
chr22	33006425	33006425	G	A	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_133633:exon1:c.C238T:p.P80S,SYN3:NM_001135774:exon2:c.C238T:p.P80S,SYN3:NM_001369907:exon2:c.C238T:p.P80S,SYN3:NM_001369908:exon2:c.C238T:p.P80S,SYN3:NM_001369909:exon2:c.C238T:p.P80S,SYN3:NM_001369910:exon2:c.C238T:p.P80S,SYN3:NM_003490:exon2:c.C238T:p.P80S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00670025805713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215155919	4.104e-06	4.788e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.534	0.11957	T	0.738	0.05018	T	0.0	0.02946	B	0.001	0.04355	B	0.001724	0.38161	N	0.174229	0.966855	0.38557	D	1.435	0.35949	L	1.64	0.27822	T	0.39	0.08495	N	0.097	0.07811	-1.0810	0.07156	T	0.045	0.19234	T	10	0.10419449	0.19196	T	0.007	0.17699	T	0.048	0.13305	0.269	0.21735	0.0934897674506	0.08844	0.19426971832423146	0.19344	0.192369905071	0.21563	0.310420542955	0.11971	T	0.05773	0.30648	T	-0.216838	0.18427	T	-0.549249	0.17397	T	0.454280972480774	0.30954	T	0.650035	0.26417	T	0.055820778	0.10899	0.076109305	0.16824	0.055820778	0.10899	0.076109305	0.16823	-3.266	0.13302	T	.	.	0.063	0.01555	B	.;.;.	.;.;.	2.215230	0.28262	17.74	0.91172224538697477	0.20427	0.86667	0.45996	D	AEFDBCI	0.756864	0.69600	D	-0.380575656411331	0.26162	1.425701	-0.190258307897902	0.31895	1.809274	0.999997822594177	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.21	4.19	0.48645	3.993000	0.56699	5.062000	0.47097	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0721:0.0:0.9279:0.0	14.339	0.66176	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	39	chr22	33006425	.	G	A	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.036;DP=727;ExcessHet=0;FS=7.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=3.07;SOR=1.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	18	0	1	0
chr22	33277139	33277139	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon8:c.G1088A:p.R363H,LARGE1:NM_001378630:exon10:c.G1391A:p.R464H,LARGE1:NM_001378627:exon13:c.G1847A:p.R616H,LARGE1:NM_001378628:exon13:c.G1847A:p.R616H,LARGE1:NM_001378629:exon13:c.G1838A:p.R613H,LARGE1:NM_001362951:exon14:c.G1994A:p.R665H,LARGE1:NM_001362953:exon14:c.G1994A:p.R665H,LARGE1:NM_001378626:exon14:c.G1994A:p.R665H,LARGE1:NM_133642:exon14:c.G1994A:p.R665H,LARGE1:NM_001362949:exon15:c.G1994A:p.R665H,LARGE1:NM_001378624:exon15:c.G1994A:p.R665H,LARGE1:NM_001378625:exon15:c.G1994A:p.R665H,LARGE1:NM_004737:exon15:c.G1994A:p.R665H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	101071	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|not_provided|not_specified|Muscular_dystrophy-dystroglycanopathy_type_B6	MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0078	0.00239617	0.0050	0.0012	0.0023	0	0.0021	0.0076	0.0022	0.0028	0.0056144	868	154602	rs1046166	0.0096	0.0096	0.0100	0.0093	0.0117	0.0095	0.0094	0.0116	0.0115	0.0019	0.0029	0.0001	0	0.0020	0.0028	0.0117	0.0063	0.0037	0.0060	0.0060	0.0067	0.0052	0.0099	0.0057	0.0055	0.0093	0.0091	0.0023	0.0647	0.0022	0	0.0002	0.0024	0	0.0099	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.102061	0.999822	0.50806	D	.	.	.	1.84	0.50459	T	-3.43	0.68651	D	0.486	0.55886	-0.7856	0.55984	T	0.176	0.52037	T	10	0.008549035	0.00194	T	.	.	.	0.149	0.39377	.	.	0.479604954264	0.47592	0.7054452157539642	0.70486	1.6004500588	0.88685	0.542836546898	0.44846	T	0.762	0.93567	D	-0.355552	0.04388	T	-0.271179	0.47701	T	0.0229300060964148	0.01015	T	0.959004	0.85901	D	0.41365054	0.61666	0.4395907	0.67306	0.484658	0.66182	0.4395907	0.67307	-10.619	0.77528	D	0.38791358202145454	0.48147	0.112	0.41557	B	.;.;.	.;.;.	4.543299	0.71428	25.7	0.99949648034332861	0.99938	0.85569	0.44715	D	AEFBI	0.427590	0.49147	N	0.427473738169047	0.62938	4.518257	0.381065446135033	0.60397	4.22693	0.996023832251556	0.34476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.5	3.42	0.38259	2.911000	0.48472	1.062000	0.23729	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.969000	0.54022	0.0:0.7185:0.0:0.2815	8.968	0.35051	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3212.33	34	chr22	33277139	.	C	T	3212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.286;DP=880;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.151;SOR=0.806	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1299	18	0	1	0
chr22	33316116	33316116	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon6:c.G661A:p.V221I,LARGE1:NM_001378630:exon7:c.G817A:p.V273I,LARGE1:NM_001378629:exon10:c.G1264A:p.V422I,LARGE1:NM_001362951:exon11:c.G1420A:p.V474I,LARGE1:NM_001362953:exon11:c.G1420A:p.V474I,LARGE1:NM_001378626:exon11:c.G1420A:p.V474I,LARGE1:NM_001378627:exon11:c.G1420A:p.V474I,LARGE1:NM_001378628:exon11:c.G1420A:p.V474I,LARGE1:NM_133642:exon11:c.G1420A:p.V474I,LARGE1:NM_001362949:exon12:c.G1420A:p.V474I,LARGE1:NM_001378624:exon12:c.G1420A:p.V474I,LARGE1:NM_001378625:exon12:c.G1420A:p.V474I,LARGE1:NM_004737:exon12:c.G1420A:p.V474I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	1	1515	5	1	0	7	0.00230491	.	.	.	101064	Muscular_dystrophy-dystroglycanopathy_type_B6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|LARGE1-related_disorder|not_specified|not_provided	MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0140547202504	0.0018	0.000199681	0.0009	0.0007	0.0003	0	0.0003	0.0014	0	0.0002	0.0008667	134	154602	rs150861748	0.0017	0.0017	0.0018	0.0016	0.0021	0.0016	0.0016	0.0020	0.0020	0.0004	0.0004	0	0	0.0004	0.0005	0.0021	0.0018	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0006	0	0.0021	0	0.0002	0.171	0.22746	T	0.181	0.30339	T	0.544	0.37968	P	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.78	0.50721	T	-0.72	0.20358	N	0.467	0.50418	-0.8825	0.49561	T	0.172	0.51357	T	10	0.026062876	0.00783	T	0.014055	0.33919	T	0.091	0.26358	.	.	0.0934897674506	0.08844	0.37553958011509997	0.37467	0.476979885373	0.46820	0.68186455965	0.64537	T	0.337792	0.70714	T	-0.43068	0.01468	T	-0.404649	0.32845	T	0.023783041164279	0.01118	T	0.886311	0.67517	D	0.121630296	0.28597	0.104113966	0.24999	0.121630296	0.28597	0.104113966	0.24998	-5.569	0.45850	T	0.28357161420575144	0.37925	0.112	0.22061	B	.;.;.;.;.;.	.;.;.;.;.;.	3.001359	0.40103	21.1	0.99754828742882973	0.84537	0.94544	0.61510	D	AEFDGBI	0.567541	0.57309	D	0.0827991372445034	0.45662	2.818948	0.146428313028648	0.46952	2.93299	0.999963893892965	0.48965	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.26	4.25	0.49658	5.679000	0.67824	4.869000	0.45548	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.9263:0.0:0.0737	13.792	0.62637	858	0.34001	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1040.33	33	chr22	33316116	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=720;ExcessHet=0;FS=7.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.444;SOR=1.501	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1439	18	0	1	0
chr22	33650384	33650384	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001362951:exon3:c.G391A:p.V131I,LARGE1:NM_001362953:exon3:c.G391A:p.V131I,LARGE1:NM_001378626:exon3:c.G391A:p.V131I,LARGE1:NM_001378627:exon3:c.G391A:p.V131I,LARGE1:NM_001378628:exon3:c.G391A:p.V131I,LARGE1:NM_001378629:exon3:c.G391A:p.V131I,LARGE1:NM_133642:exon3:c.G391A:p.V131I,LARGE1:NM_001362949:exon4:c.G391A:p.V131I,LARGE1:NM_001378624:exon4:c.G391A:p.V131I,LARGE1:NM_001378625:exon4:c.G391A:p.V131I,LARGE1:NM_004737:exon4:c.G391A:p.V131I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	1	1505	16	0	0	16	0.00528751	.	.	.	194403	not_provided|Inborn_genetic_diseases|Muscular_dystrophy-dystroglycanopathy_type_B6|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00737510559635	0.0003	0.000199681	0.0005	0.0001	0.0002	0	0	0.0005	0.0011	0.0015	0.0004722	73	154602	rs56239539	0.0006	0.0006	0.0005	0.0006	0.0024	0.0005	0.0005	0.0018	0.0017	0	0.0003	3.826e-05	0	7.504e-05	0.0024	0.0005	0.0005	0.0021	0.0003	0.0003	0.0004	0.0002	0.0019	0.0003	0.0002	0.0010	0.0007	7.216e-05	0	6.533e-05	0	0	0	0	0.0005	0.0009	0.0019	0.21	0.22138	T	0.205	0.33780	T	0.002	0.09854	B	0.011	0.15521	B	0.009690	0.30245	N	0.337863	0.999537	0.21028	N	.	.	.	1.22	0.37405	T	-0.14	0.18248	N	0.236	0.32370	-1.0668	0.10131	T	0.097	0.36341	T	10	0.012152314	0.00262	T	0.007375	0.19550	T	0.067	0.19503	.	.	0.110392049598	0.10638	0.16995228859857772	0.16915	0.43110305208	0.43331	0.438940137625	0.30432	T	0.176434	0.52638	T	-0.571152	0.00218	T	-0.612211	0.11805	T	0.0201421945525363	0.00715	T	0.822518	0.61827	T	0.097901694	0.23085	0.0677319	0.14052	0.0644511	0.13674	0.08789194	0.20459	-6.833	0.52804	T	0.09608060228894312	0.06610	0.070	0.19316	B	.;.;.;.;.	.;.;.;.;.	2.828668	0.37287	20.5	0.99162027252266094	0.54127	0.39510	0.26229	N	AEFBI	0.243223	0.36454	N	-0.287921974690241	0.29614	1.643809	-0.109242881608558	0.35017	2.020904	0.999995232328991	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	3.238000	0.51051	7.575000	0.60810	0.599000	0.40250	0.157000	0.23755	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.869	0.96839	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.001359	0.005848	0.000000	0.017241	0.009146	0.015152	0.02632	583.33	35	chr22	33650384	.	C	T	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=696;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.402;SOR=1.123	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	18	0	1	0
chr22	33650564	33650564	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001362951:exon3:c.G211A:p.E71K,LARGE1:NM_001362953:exon3:c.G211A:p.E71K,LARGE1:NM_001378626:exon3:c.G211A:p.E71K,LARGE1:NM_001378627:exon3:c.G211A:p.E71K,LARGE1:NM_001378628:exon3:c.G211A:p.E71K,LARGE1:NM_001378629:exon3:c.G211A:p.E71K,LARGE1:NM_133642:exon3:c.G211A:p.E71K,LARGE1:NM_001362949:exon4:c.G211A:p.E71K,LARGE1:NM_001378624:exon4:c.G211A:p.E71K,LARGE1:NM_001378625:exon4:c.G211A:p.E71K,LARGE1:NM_004737:exon4:c.G211A:p.E71K	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	169759	Muscular_dystrophy-dystroglycanopathy_type_B6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|not_provided|Muscular_dystrophy|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1	MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MedGen:C3661900|Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	0.0178003397791	0.0011	0.000199681	0.0007	0.0002	0.0009	0.0001	0.0002	0.0011	0	0.0001	0.000718	111	154602	rs116164106	0.0014	0.0014	0.0014	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0003	0.0006	0	0.0005	0.0003	0.0003	0.0017	0.0016	0.0001	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0007	0	0	0.0002	0	0.0016	0.0014	0.0002	0.186	0.38863	T	0.394	0.92824	T	0.004	0.14655	B	0.002	0.13708	B	0.000780	0.41888	D	0.239216	0.995273	0.42618	D	.	.	.	1.07	0.39586	T	-0.68	0.54382	N	0.532	0.56058	-1.0303	0.20357	T	0.128	0.43666	T	10	0.030572116	0.01185	T	0.018	0.39638	T	0.137	0.36984	.	.	0.353785824208	0.34994	0.5844088534200901	0.58369	0.585355483507	0.54180	0.683034062386	0.64704	T	0.235975	0.60335	T	-0.30857	0.07874	T	-0.222183	0.52526	T	0.0168378524173143	0.00437	T	0.958704	0.84427	D	0.067728214	0.14692	0.10693438	0.25735	0.067728214	0.14692	0.10693438	0.25734	-9.568	0.71282	D	.	.	0.130	0.55754	B	.;.;.;.;.;.	.;.;.;.;.;.	3.776696	0.54279	23.5	0.99790860707317475	0.87661	0.98146	0.79995	D	AEFBHI	0.714027	0.66664	D	-0.0775622196656698	0.38379	2.246846	0.109128692884265	0.45015	2.772256	0.999999999185346	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.620846	0.47308	0	.	.	5.84	5.84	0.93373	5.244000	0.65222	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	20.153	0.98095	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	895.33	35	chr22	33650564	.	C	T	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.151;DP=729;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.316;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	18	0	1	0
chr22	35082535	35082535	C	T	exonic	ISX	.	nonsynonymous SNV	ISX:NM_001303508:exon3:c.C247T:p.R83W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.367245381024	.	.	3.298e-05	9.615e-05	0	0.0001	0	3.001e-05	0	0	2.59e-05	4	154602	rs745340391	4.378e-05	4.378e-05	4.084e-05	4.676e-05	0.0007	3.509e-05	3.193e-05	0.0002	0.0001	0.0001	0.0001	0	0	0	0.0007	3.508e-05	0.0001	3.478e-05	0.0001	0.0001	0.0001	9.416e-05	0.0003	7.578e-05	6.282e-05	0.0001	9.938e-05	0.0002	0	0.0003	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000205	0.47681	D	0.000000	0.999904	0.50806	D	4.395	0.98631	H	-4.35	0.97292	D	-7.78	0.95870	D	0.914	0.91621	1.079	0.98856	D	0.967	0.98938	D	10	0.90205884	0.89568	D	0.367245	0.92658	D	0.836	0.94840	0.534	0.64293	0.952901093887	0.95239	0.4525461995484037	0.45172	0.0679534120877	0.07611	0.565159499645	0.47995	T	0.645537	0.89180	D	0.320998	0.84544	D	0.449016	0.93557	D	0.991719365119934	0.82049	D	0.977102	0.91996	D	0.83880067	0.86523	0.6642366	0.80316	0.83880067	0.86524	0.6642366	0.80317	-10.993	0.79620	D	.	.	0.463	0.62854	A	.;.	.;.	4.140116	0.62018	24.4	0.99443876580018264	0.64921	0.85627	0.44780	D	AEFGBI	0.554872	0.56554	D	0.140109475314329	0.48343	3.047862	-0.0691037464532252	0.36676	2.137386	0.00118831832434189	0.08314	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	0.16	0.14261	0.117000	0.15414	-0.132000	0.11608	-1.041000	0.01665	0.019000	0.19563	0.159000	0.23246	0.900000	0.43643	0.6977:0.3023:0.0:0.0	13.360	0.60090	961	0.08552	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1258.33	38	chr22	35082535	.	C	T	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.285;DP=1207;ExcessHet=0;FS=4.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.196;SOR=1.229	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	18	0	1	0
chr22	35386919	35386919	G	A	exonic	HMOX1	.	nonsynonymous SNV	HMOX1:NM_002133:exon3:c.G379A:p.E127K	Heme oxygenase-1 deficiency	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0404868811323	.	.	0.0002	0	0	0	0	3.047e-05	0	0.0013	0.0001488	23	154602	rs774342824	4.515e-05	4.583e-05	2.859e-05	6.188e-05	0.0007	3.641e-05	3.322e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0002	1.799e-06	4.968e-05	0.0007	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.104	0.51112	T	1.0	0.90584	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	1.85	0.24472	T	-3.15	0.64132	D	0.522	0.55193	-0.6361	0.63312	T	0.189	0.53990	T	10	0.37857425	0.54021	T	0.040487	0.59403	D	0.385	0.70194	0.612	0.74535	0.476364732183	0.47263	0.7921535565087376	0.79167	0.207218600624	0.23165	0.601350128651	0.53095	T	0.325708	0.69639	T	-0.164515	0.26068	T	-0.0654389	0.65950	T	0.858907163143158	0.50952	D	0.972903	0.94607	D	0.8613349	0.88188	0.5815945	0.75746	0.8613349	0.88189	0.5815945	0.75747	-11.005	0.79686	D	.	.	0.197	0.43707	B	.;.	.;.	4.940584	0.81535	27.6	0.99913834407880775	0.98238	0.99101	0.91240	D	AEFDGBI	0.950870	0.96492	D	0.496664733260356	0.66893	5.009724	0.412324961363803	0.62332	4.446834	0.999999999999989	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	4.78	0.60666	8.087000	0.89341	8.600000	0.77723	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.1284:0.8716:0.0	16.882	0.85933	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	38	chr22	35386919	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.483;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	18	0	1	0
chr22	35410758	35410758	A	C	exonic	MCM5	.	nonsynonymous SNV	MCM5:NM_006739:exon7:c.A767C:p.K256T	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00858644020135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.141	0.34716	T	0.05	0.22331	B	0.112	0.34794	B	0.000018	0.62929	D	0.146725	0.997379	0.43837	D	1.74	0.45129	L	2.46	0.14907	T	-4.06	0.74582	D	0.398	0.47022	-1.0975	0.04407	T	0.042	0.17869	T	10	0.2284407	0.39748	T	0.008586	0.22705	T	0.095	0.27398	0.517	0.61763	0.508672771687	0.50506	0.5671350599437982	0.56641	0.599970325159	0.55094	0.752207815647	0.74772	T	0.309232	0.68128	T	-0.130445	0.31425	T	-0.425152	0.30486	T	0.890423238277435	0.54124	D	0.976602	0.92599	D	0.30747125	0.53566	0.19442132	0.43065	0.30747125	0.53566	0.19442132	0.43064	-8.116	0.61859	D	0.2511603463432727	0.33989	0.182	0.48766	B	.;.;.	.;.;.	3.011066	0.40265	21.1	0.99277670676978569	0.57799	0.77795	0.38293	D	ALL	0.357674	0.44862	N	-0.181791349764637	0.33894	1.928156	-0.0356756469603125	0.38116	2.241113	0.999999998460145	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	4.28	0.50183	1.658000	0.36992	5.324000	0.48299	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8564:0.0:0.1436:0.0	9.868	0.40326	946	0.12043	MCM OB domain;MCM OB domain;MCM OB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2348.33	34	chr22	35410758	.	A	C	2348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.189;DP=837;ExcessHet=0;FS=1.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.561;SOR=0.885	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	18	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T,APOL3:NM_014349:exon4:c.G469A:p.A157T,APOL3:NM_145639:exon4:c.G469A:p.A157T,APOL3:NM_145642:exon4:c.G82A:p.A28T,APOL3:NM_030644:exon5:c.G469A:p.A157T,APOL3:NM_145641:exon5:c.G82A:p.A28T	.	420	1018	81	3	0	87	0.0409797	.	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.000000	0.013587	0.023392	0.050000	0.043103	0.024390	0.041667	0.02632	1902.33	133	chr22	36141727	.	C	T	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.587;DP=1080;ExcessHet=0;FS=6.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.079;SOR=0.952	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V	.	416	1076	30	0	0	30	0.0137489	.	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.02632	1319.33	50	chr22	36160788	.	C	A	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.035;DP=922;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.549;SOR=0.463	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	18	0	1	0
chr22	36199341	36199341	C	T	exonic	APOL4	.	nonsynonymous SNV	APOL4:NM_145660:exon3:c.G80A:p.G27E,APOL4:NM_030643:exon4:c.G71A:p.G24E	.	424	1082	16	0	0	16	0.00733945	.	.	.	2245414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00311930803976	0.0003	0.000998403	0.0006	0.0001	0	0	0	0.0007	0.0011	0.0010	0.0004851	75	154602	rs200978577	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0001	0.0002	0.0002	0	1.872e-05	0.0061	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0003	0	0	0	0.0068	0.0005	0.0014	0.0017	0.0	0.91255	D	0.015	0.92824	D	0.999	0.77913	D	0.843	0.60313	P	0.274097	0.03790	N	2.202390	1	0.08975	N	.	.	.	3.94	0.72237	T	-0.26	0.96495	N	0.135	0.13198	-0.7458	0.58154	T	0.326	0.69427	T	9	0.011607587	0.00253	T	0.003119	0.06786	T	0.073	0.21317	.	.	0.432266382184	0.42845	0.12249909407249783	0.12176	0.100179550336	0.11320	.	.	.	0.005692	0.05139	T	-0.720524	0.00027	T	-0.843138	0.01052	T	0.0295116567229462	0.01915	T	0.348165	0.07698	T	0.038698386	0.05205	0.054456927	0.09369	0.038698386	0.05205	0.054456927	0.09368	-2.914	0.09284	T	.	.	0.099	0.31228	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.642736	0.01459	0.089	0.59419260392118001	0.06220	0.00922	0.03585	N	AEFDBHCI	0.082817	0.16773	N	-0.965365622503138	0.09350	0.442195	-1.25593071923756	0.05043	0.2394057	0.999999790205118	0.74766	0.554377	0.28877	0	0.573078	0.20572	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	1.78	-2.35	0.06302	-3.843000	0.00397	-4.862000	0.01952	-3.716000	0.00064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3498:0.4768:0.1734	4.136	0.09640	525	0.74024	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1726.33	33	chr22	36199341	.	C	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.038;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-1.434;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1043.79	39	chr22	36227655	.	C	A	1043.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.684;DP=1698;ExcessHet=0.3672;FS=130.109;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.58;SOR=10.43	GT:AD:DP:GQ:PL	0/1:272,51:323:99:108,0,7394	16	0	3	0
chr22	36265156	36265156	A	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.A266T:p.E89V,APOL1:NM_001362927:exon5:c.A266T:p.E89V,APOL1:NM_001136540:exon6:c.A320T:p.E107V,APOL1:NM_003661:exon6:c.A320T:p.E107V,APOL1:NM_145343:exon7:c.A368T:p.E123V	.	0	1513	9	0	0	9	0.0029654	.	.	.	1052133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00270230265822	.	.	4.98e-05	0	0	0	0	4.527e-05	0	0.0002	3.88e-05	6	154602	rs780653482	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0010	1.52e-05	1.324e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.194e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.966	0.71341	D	0.039826	0.24126	N	0.423635	1	0.25743	N	2.305	0.65957	M	3.59	0.04544	T	-6.27	0.90648	D	0.15	0.21188	-1.1411	0.01318	T	0.040	0.17362	T	10	0.63143617	0.68539	D	0.002702	0.05550	T	0.063	0.18251	0.746	0.87738	0.572623985369	0.56930	0.3563416701615257	0.35548	0.385980496119	0.39890	0.401006579399	0.25209	T	0.052976	0.29314	T	-0.293915	0.09247	T	-0.423296	0.30697	T	0.709237813949585	0.41163	D	0.743426	0.36288	T	0.3042759	0.53285	0.271764	0.53080	0.3042759	0.53285	0.271764	0.53079	-6.948	0.57835	T	.	.	0.502	0.64740	A	.;.;.;.;.;.	.;.;.;.;.;.	2.902462	0.38477	20.7	0.98812826847654978	0.46655	0.49724	0.28499	N	AEFBI	0.203841	0.33032	N	0.0192535934745214	0.42730	2.580204	-0.220310951671899	0.30808	1.737902	0.94924029317975	0.27837	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	2.35	2.35	0.28166	1.869000	0.39156	7.039000	0.57330	0.560000	0.28382	0.375000	0.25965	0.876000	0.27648	0.004000	0.06068	1.0:0.0:0.0:0.0	6.685	0.22331	503	0.75780	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	67	chr22	36265156	.	A	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.228;DP=1209;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.982;SOR=0.456	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	18	0	1	0
chr22	36265413	36265413	G	A	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G523A:p.G175S,APOL1:NM_001362927:exon5:c.G523A:p.G175S,APOL1:NM_001136540:exon6:c.G577A:p.G193S,APOL1:NM_003661:exon6:c.G577A:p.G193S,APOL1:NM_145343:exon7:c.G625A:p.G209S	.	.	.	.	.	.	.	.	.	.	.	2111601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.263	0.00622263168102	7.7e-05	.	0.0002	9.619e-05	0	0	0.0003	0.0003	0	0	0.000194	30	154602	rs183714534	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0001	8.953e-05	0	2.519e-05	0.0002	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.817e-05	0	0	0	0	0.0005	0	0.0003	0	0	0.045	0.42783	D	0.025	0.56640	D	0.742	0.43019	P	0.351	0.42849	B	0.000000	0.84330	D	0.000000	0.947215	0.37559	D	2.74	0.80084	M	1.1	0.39050	T	-5.06	0.82764	D	0.454	0.49328	-0.7960	0.55380	T	0.170	0.51085	T	10	0.45091784	0.58692	T	0.006223	0.16317	T	0.263	0.57612	.	.	0.62478398535	0.62173	0.7187336993986437	0.71816	0.123015874218	0.13861	0.311918318272	0.12197	T	0.139845	0.47407	T	-0.158976	0.26917	T	-0.146125	0.59585	T	0.409505784511566	0.29300	T	0.925008	0.72455	D	0.34845737	0.56946	0.24303111	0.49738	0.34845737	0.56946	0.24303111	0.49737	-7.196	0.55481	T	.	.	0.143	0.35247	B	.;.;.;.;.	.;.;.;.;.	1.711587	0.21796	15.35	0.93731575499395869	0.23661	0.24371	0.22373	N	AEFBI	0.268668	0.38511	N	-0.133347407646025	0.35945	2.071256	-0.2945794380517	0.28276	1.575281	0.878340915307425	0.25564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	3.38	3.38	0.37806	1.415000	0.34355	1.281000	0.25351	-0.298000	0.06216	0.770000	0.29357	0.245000	0.23879	0.000000	0.00833	0.0:0.0:1.0:0.0	10.154	0.41989	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2287.33	173	chr22	36265413	.	G	A	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=2734;ExcessHet=0;FS=1.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.951;SOR=0.688	GT:AD:DP:GQ:PL	0/0:157,0:157:99:0,120,1800	18	0	1	0
chr22	36265596	36265596	G	A	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G706A:p.V236M,APOL1:NM_001362927:exon5:c.G706A:p.V236M,APOL1:NM_001136540:exon6:c.G760A:p.V254M,APOL1:NM_003661:exon6:c.G760A:p.V254M,APOL1:NM_145343:exon7:c.G808A:p.V270M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00272833383836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.915e-07	6.841e-07	0	1.393e-06	9.054e-07	0	0	.	.	0	0	0	0	0	0	9.054e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.09658	T	0.447	0.13066	T	0.011	0.15914	B	0.015	0.17295	B	0.455534	0.04839	N	1.310540	1	0.08975	N	0.06	0.08197	N	3.87	0.03597	T	-0.56	0.17003	N	0.085	0.07949	-0.9162	0.46063	T	0.006	0.01907	T	10	0.07078481	0.10344	T	0.002728	0.05637	T	0.005	0.00259	0.344	0.33788	0.141422826196	0.13715	0.16689316346082952	0.16609	0.0606122278648	0.06739	0.296098083258	0.09821	T	0.010434	0.09426	T	-0.401727	0.02256	T	-0.81483	0.01560	T	0.0221341073133501	0.00924	T	0.712529	0.32403	T	0.014060368	0.00079	0.026984539	0.00821	0.014060368	0.00079	0.026984539	0.00820	-4.61	0.37293	T	.	.	0.161	0.35663	B	.;.;.;.;.	.;.;.;.;.	-1.843740	0.00143	0.002	0.14658076325224523	0.00331	0.00197	0.01136	N	AEFBI	0.151159	0.27558	N	-2.14509269083668	0.00102	0.004351047	-2.19937772366751	0.00112	0.004940398	0.858698444268597	0.25183	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-5.1	0.02691	-1.720000	0.01971	-20.000000	0.00162	-4.445000	0.00029	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2509:0.0:0.478:0.2711	4.390	0.10768	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	196.33	209	chr22	36265596	.	G	A	196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.652;DP=3171;ExcessHet=0;FS=120.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=2.48;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:195,0:195:99:.:.:0,120,1800:.	18	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S,APOL1:NM_001362927:exon5:c.G711C:p.R237S,APOL1:NM_001136540:exon6:c.G765C:p.R255S,APOL1:NM_003661:exon6:c.G765C:p.R255S,APOL1:NM_145343:exon7:c.G813C:p.R271S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	176.56	224	chr22	36265601	.	G	C	176.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.442;DP=2775;ExcessHet=0;FS=101.357;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.38;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	15	0	1	3
chr22	36265602	36265602	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G712C:p.E238Q,APOL1:NM_001362927:exon5:c.G712C:p.E238Q,APOL1:NM_001136540:exon6:c.G766C:p.E256Q,APOL1:NM_003661:exon6:c.G766C:p.E256Q,APOL1:NM_145343:exon7:c.G814C:p.E272Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00105143788105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.987e-06	0.0021	6.941e-06	7.033e-06	3.069e-05	3.53e-06	2.58e-06	3.15e-06	2.28e-06	3.069e-05	0	0	0	0	0	7.322e-06	0	1.215e-05	6.573e-06	1.313e-05	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.08	0.40319	T	0.021	0.58613	D	0.997	0.70673	D	0.995	0.83170	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.78	0.46185	L	3.77	0.03863	T	-1.8	0.42384	N	0.071	0.12055	-1.0427	0.16503	T	0.037	0.15943	T	10	0.28448182	0.46030	T	0.001051	0.01191	T	0.064	0.18567	0.537	0.64730	0.536287059136	0.53279	0.18553903395587315	0.18471	0.376432132591	0.39083	0.258636653423	0.04730	T	0.013777	0.11851	T	-0.329164	0.06175	T	-0.710598	0.05265	T	0.18944376707077	0.19811	T	0.829717	0.49530	T	0.079982	0.18302	0.036119618	0.02995	0.079982	0.18301	0.036119618	0.02994	-3.913	0.22497	T	.	.	0.141	0.30997	B	.;.;.;.;.	.;.;.;.;.	0.324506	0.06990	3.542	0.97952288182257552	0.37114	0.02048	0.06124	N	AEFDBI	0.286931	0.39919	N	-0.558497708475403	0.20218	1.064219	-0.91446621244494	0.11753	0.600673	0.926314169699944	0.26847	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-4.7	0.03051	-0.916000	0.04138	-4.922000	0.01925	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4682:0.1714:0.3605:0.0	4.362	0.10642	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	179.33	181	chr22	36265602	.	G	C	179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.726;DP=2902;ExcessHet=0;FS=125.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=2.42;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	18	0	1	0
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D,APOL1:NM_001362927:exon5:c.G714C:p.E238D,APOL1:NM_001136540:exon6:c.G768C:p.E256D,APOL1:NM_003661:exon6:c.G768C:p.E256D,APOL1:NM_145343:exon7:c.G816C:p.E272D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	184.04	181	chr22	36265604	.	G	C	184.04	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.134;DP=2746;ExcessHet=0;FS=112.977;InbreedingCoeff=-0.086;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.43;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	14	0	1	4
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	3097.37	197	chr22	36265782	.	G	T	3097.37	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.003;DP=2840;ExcessHet=1.3;FS=138.063;InbreedingCoeff=-0.171;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.24;SOR=11.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	13	0	5	1
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H,APOL1:NM_001362927:exon5:c.G897T:p.Q299H,APOL1:NM_001136540:exon6:c.G951T:p.Q317H,APOL1:NM_003661:exon6:c.G951T:p.Q317H,APOL1:NM_145343:exon7:c.G999T:p.Q333H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1343.83	191	chr22	36265787	.	G	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.609;DP=2757;ExcessHet=0.119;FS=303.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.28;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	17	0	2	0
chr22	36288923	36288923	T	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon33:c.A4574G:p.K1525R	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	3727115	Autosomal_dominant_nonsyndromic_hearing_loss_17|Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss	MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635|MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.478	0.172413985787	.	.	2.472e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs747362893	2.737e-05	2.736e-05	1.906e-05	3.576e-05	0.0007	2.063e-05	1.816e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0007	5.396e-06	4.968e-05	0.0003	1.972e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.308	0.14111	T	0.3	0.20357	T	0.366	0.34016	B	0.278	0.40236	B	0.000000	0.84330	D	0.048244	0.999994	0.58761	D	1.17	0.29769	L	-1.87	0.84415	D	-1.28	0.32185	N	0.349	0.39052	-0.0030	0.82194	T	0.504	0.81305	D	10	0.25647336	0.43052	T	0.172414	0.84940	D	0.478	0.76946	0.473	0.54859	0.756673208091	0.75446	0.42452496747763646	0.42369	0.462158744156	0.45747	0.764038681984	0.76532	T	0.410581	0.76528	T	-0.184134	0.23124	T	-0.242593	0.50545	T	0.174324005842209	0.18869	T	0.924508	0.72366	D	0.2265724	0.45341	0.1918895	0.42672	0.2265724	0.45341	0.1918895	0.42671	-9.789	0.72638	D	0.14390640753625822	0.16397	0.121	0.25000	B	.	.	3.535447	0.49623	22.8	0.99540258660426395	0.70461	0.91882	0.54467	D	AEFDBCI	0.709379	0.66348	D	0.206304469157306	0.51504	3.331126	0.336138841805646	0.57675	3.934326	0.999998651192628	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	5.25	0.73169	5.084000	0.64294	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.456	0.75046	492	0.76569	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	969.33	34	chr22	36288923	.	T	C	969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.14;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	18	0	1	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	539.79	37	chr22	36316560	.	G	C	539.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.145;DP=1446;ExcessHet=0.3672;FS=307.401;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.02;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:84,0:84:99:.:.:0,120,1800:.	16	0	3	0
chr22	37296036	37296036	C	T	exonic	CYTH4	.	nonsynonymous SNV	CYTH4:NM_001318024:exon4:c.C34T:p.R12C,CYTH4:NM_013385:exon4:c.C205T:p.R69C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.046366779724	.	.	9.693e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs762128641	6.845e-06	6.84e-06	6.809e-06	6.881e-06	7.56e-05	3.46e-06	2.52e-06	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	5.398e-06	0	1.162e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.106	0.26037	B	0.03	0.21741	B	0.000060	0.53742	D	0.123947	0.999872	0.50225	D	2.085	0.57729	M	0.53	0.55090	T	-6.89	0.93257	D	0.487	0.52829	-0.8032	0.54956	T	0.155	0.48568	T	10	0.32832927	0.50103	T	0.046367	0.62424	D	0.134	0.36365	.	.	0.421483936565	0.41765	0.3755497706806028	0.37468	1.29413067989	0.82873	0.4807318151	0.36158	T	0.079785	0.44271	T	-0.163535	0.26217	T	-0.289915	0.45781	T	0.819673001766205	0.47749	D	0.991501	0.97315	D	0.21906173	0.44428	0.22517137	0.47453	0.21906173	0.44428	0.22517137	0.47452	-9.494	0.70821	D	.	.	0.284	0.55152	B	.;.;.;.	.;.;.;.	3.645382	0.51706	23.1	0.99528960310859915	0.69715	0.24636	0.22455	N	AEFDBI	0.293198	0.40388	N	-0.288473347386712	0.29593	1.642435	-0.32603496194996	0.27260	1.511423	0.999499565005492	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.06	2.65	0.30588	1.676000	0.37181	1.845000	0.29216	0.599000	0.40250	0.613000	0.27855	0.920000	0.28304	0.306000	0.24642	0.3457:0.5587:0.0:0.0956	6.507	0.21396	946	0.12043	Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	35	chr22	37296036	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.29;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	18	0	1	0
chr22	37497164	37497164	C	T	exonic	CARD10	.	nonsynonymous SNV	CARD10:NM_014550:exon12:c.G1802A:p.R601Q	.	426	1094	2	0	0	2	0.000913242	.	.	.	2282026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00644368060476	0.0002	0.000599042	0.0002	0.0005	0.0002	0	0	0.0002	0.0011	0.0001	0.0001876	29	154602	rs201423754	0.0001	0.0001	9.672e-05	0.0001	0.0063	0.0001	0.0001	0.0046	0.0041	0.0010	8.996e-05	0	2.519e-05	0	0.0063	7.017e-05	0.0004	4.643e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0002	0	0	0	0	0.0001	0.0005	0.0002	0.337	0.22833	T	0.565	0.11899	T	0.031	0.20130	B	0.003	0.08700	B	0.941185	0.07595	N	1.026640	0.999997	0.08975	N	0.205	0.09354	N	0.85	0.47130	T	0.1	0.45769	N	0.126	0.12484	-1.0257	0.21853	T	0.057	0.23942	T	10	0.020336926	0.00467	T	0.006444	0.16956	T	0.070	0.20419	.	.	0.481246930725	0.47757	0.30866322282472947	0.30779	0.369645273994	0.38492	0.353287875652	0.18405	T	0.103453	0.41211	T	-0.490884	0.00642	T	-0.612896	0.11751	T	0.00985210732312693	0.00130	T	0.829117	0.49388	T	0.02061821	0.00626	0.02320931	0.00335	0.02061821	0.00626	0.02320931	0.00335	-2.599	0.07839	T	.	.	0.074	0.20896	B	.;.;.;.;.	.;.;.;.;.	1.358379	0.17667	13.30	0.97775910339110628	0.35900	0.06690	0.12710	N	ALL	0.073169	0.14625	N	-0.872646494442306	0.11496	0.555101	-0.789994731147985	0.14741	0.7717698	0.999999998867823	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.570548	0.19454	0	0.648885	0.59868	0	.	.	5.52	0.747	0.17520	0.168000	0.16438	1.424000	0.26389	0.599000	0.40250	0.083000	0.22414	0.844000	0.27327	0.574000	0.30748	0.0:0.4651:0.3332:0.2017	4.812	0.12715	923	0.18507	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.005435	0.008772	0.000000	0.017241	0.000000	0.003788	0.02632	1205.33	33	chr22	37497164	.	C	T	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=721;ExcessHet=0;FS=2.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.25;SOR=0.479	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	18	0	1	0
chr22	37566495	37566495	T	C	exonic	CDC42EP1	.	nonsynonymous SNV	CDC42EP1:NM_152243:exon2:c.T146C:p.M49T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.103505193463	.	.	8.577e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753729994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.275	0.64647	M	-2.02	0.85542	D	-5.48	0.89029	D	0.854	0.85027	0.432	0.89566	D	0.713	0.90134	D	10	0.8980193	0.89159	D	0.103505	0.77758	D	0.837	0.94877	0.651	0.78858	0.834668003253	0.83309	0.5031232706162783	0.50234	0.321740395883	0.34373	0.871510386467	0.92783	D	0.743715	0.92923	D	0.302887	0.83198	D	0.366428	0.90941	D	0.984610736370087	0.75865	D	0.822018	0.75346	T	0.8633028	0.88338	0.8655959	0.92562	0.8633028	0.88340	0.8655959	0.92562	-12.234	0.85972	D	.	.	0.955	0.87497	P	.;.;.	.;.;.	4.373537	0.67350	25.1	0.98260059176625625	0.39658	0.96304	0.68486	D	AEFDGBHCI	0.891176	0.82690	D	0.642299795506663	0.75873	6.38322	0.612702581098961	0.75862	6.386152	0.999999999999683	0.74766	0.722319	0.85440	0	0.607795	0.50457	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.99	4.99	0.65942	5.105000	0.64427	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	14.989	0.71024	952	0.10565	CRIB domain|CRIB domain|CRIB domain|CRIB domain;CRIB domain|CRIB domain;CRIB domain|CRIB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1256.33	33	chr22	37566495	.	T	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.345;DP=758;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.655;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	18	0	1	0
chr22	37643739	37643739	C	T	exonic	SH3BP1	.	nonsynonymous SNV	SH3BP1:NM_001350055:exon7:c.C569T:p.T190M,SH3BP1:NM_018957:exon7:c.C569T:p.T190M	.	398	1093	29	2	0	33	0.0148716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0052	0.00179712	0.0049	0.0011	0.0052	0	0.0006	0.0072	0.0111	0.0022	0.00489	756	154602	rs149928566	0.0051	0.0051	0.0051	0.0052	0.0220	0.0050	0.0050	0.0189	0.0177	0.0020	0.0051	0.0176	0	0.0007	0.0220	0.0053	0.0068	0.0030	0.0043	0.0043	0.0045	0.0041	0.0063	0.0041	0.0039	0.0058	0.0056	0.0013	0	0.0045	0.0167	0.0002	0.0010	0.0272	0.0063	0.0080	0.0033	0.158	0.23905	T	0.151	0.32355	T	0.537	0.37852	P	0.084	0.29270	B	0.124827	0.18865	N	0.538685	0.999995	0.08975	N	1.12	0.28775	L	1.54	0.30133	T	-1.51	0.36787	N	0.075	0.04913	-0.9903	0.32525	T	0.015	0.06042	T	10	0.004835278	0.00103	T	.	.	.	0.021	0.04004	.	.	0.323615622048	0.31974	0.12693358750623449	0.12619	0.612962466754	0.55882	0.34674757719	0.17442	T	0.042278	0.26130	T	-0.614023	0.00120	T	-0.651052	0.08880	T	0.00465862241768883	0.00050	T	0.812719	0.46458	T	0.02873167	0.02255	0.061106727	0.11745	0.02873167	0.02255	0.061106727	0.11744	-4.639	0.32658	T	.	.	0.060	0.00995	B	.;.;.	.;.;.	1.131660	0.15185	11.65	0.94293149520776653	0.24596	0.17490	0.19860	N	AEFDGBHCI	0.078265	0.15787	N	-0.785081457740422	0.13697	0.6766855	-0.739479779124818	0.15981	0.8432177	0.999999219711855	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.639134	0.45391	0	0.683535	0.66460	0	.	.	5.08	-2.34	0.06321	-0.538000	0.06209	0.037000	0.13814	-0.172000	0.11096	0.001000	0.13787	0.001000	0.17328	0.843000	0.39806	0.0:0.3094:0.1327:0.5579	6.747	0.22653	934	0.15400	BAR domain|BAR domain|BAR domain;BAR domain|BAR domain|BAR domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023713	0.020202	0.021739	0.052632	0.150000	0.025862	0.003067	0.015152	0.02632	399.33	35	chr22	37643739	.	C	T	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.261;DP=660;ExcessHet=0;FS=7.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.157	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	18	0	1	0
chr22	37713220	37713220	C	G	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon5:c.C265G:p.P89A	Deafness, autosomal recessive 28, Autosomal recessive	2	1490	30	0	0	30	0.00996678	.	.	.	176287	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_specified|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00181085889568	0.0057	0.000798722	0.0049	0.0003	0.0040	0.0001	0.0002	0.0077	0.0037	0.0014	0.0042949	664	154602	rs199646135	0.0047	0.0047	0.0047	0.0047	0.0122	0.0046	0.0046	0.0099	0.0090	0.0004	0.0040	0.0119	0	0.0003	0.0122	0.0053	0.0053	0.0015	0.0038	0.0038	0.0043	0.0032	0.0061	0.0035	0.0034	0.0056	0.0054	0.0007	0	0.0041	0.0127	0	9.427e-05	0.0204	0.0061	0.0038	0.0010	0.041	0.41915	D	0.586	0.08332	T	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.03	0.20959	T	-1.55	0.37566	N	0.139	0.13769	-1.0036	0.28874	T	0.021	0.08870	T	9	0.0034452677	0.00061	T	0.001811	0.03115	T	0.041	0.10877	.	.	0.211220785272	0.20719	0.06920054986088088	0.06858	0.121807995816	0.13726	0.390593290329	0.23754	T	0.039334	0.25154	T	-0.587355	0.00174	T	-0.613164	0.11729	T	0.00287286403046066	0.00030	T	0.431557	0.11736	T	0.032453425	0.03273	0.03632603	0.03057	0.030229906	0.02649	0.04387588	0.05557	-4.177	0.26417	T	.	.	0.064	0.01786	B	.;.	.;.	1.673009	0.21327	15.15	0.91957254829844126	0.21285	0.12367	0.17225	N	AEFDBI	0.039282	0.05682	N	-1.17101683122181	0.05442	0.2481506	-1.25903393729726	0.04998	0.2371601	0.00231855475340479	0.09317	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.604944	0.38103	0	.	.	1.94	-0.516	0.11354	0.411000	0.20836	-0.427000	0.09246	-0.234000	0.07639	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.2716:0.462:0.2664:0.0	4.03	0.09189	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.020202	0.009511	0.005848	0.100000	0.008621	0.039634	0.003788	0.02632	333.33	26	chr22	37713220	.	C	G	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.339;DP=511;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.323;SOR=0.412	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,826	18	0	1	0
chr22	37713346	37713346	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon5:c.G391A:p.G131S	Deafness, autosomal recessive 28, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	53019	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0049	0.00299521	0.0047	0.0013	0.0023	0	0.0003	0.0072	0.0033	0.0022	0.0045601	705	154602	rs144634857	0.0052	0.0052	0.0051	0.0053	0.0291	0.0051	0.0050	0.0255	0.0242	0.0015	0.0034	0.0277	5.038e-05	0.0003	0.0291	0.0053	0.0061	0.0024	0.0046	0.0046	0.0046	0.0045	0.0071	0.0043	0.0042	0.0060	0.0056	0.0009	0.0548	0.0071	0.0254	0.0002	9.434e-05	0.0137	0.0055	0.0062	0.0031	0.421	0.09806	T	0.74	0.04982	T	0.066	0.23586	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.0	0.21473	T	0.21	0.04776	N	0.142	0.14196	-1.0020	0.29342	T	0.020	0.08453	T	9	0.0030972362	0.00051	T	.	.	.	0.052	0.14661	.	.	0.139678290688	0.13603	0.06387593807253937	0.06326	0.115210398567	0.12999	0.240315154195	0.02819	T	0.011006	0.09875	T	-0.662728	0.00060	T	-0.722128	0.04694	T	0.00037377022165025	0.00003	T	0.320668	0.06474	T	0.01437947	0.00091	0.03935685	0.04010	0.014525475	0.00097	0.044263344	0.05697	-3.516	0.16657	T	.	.	0.083	0.09143	B	.;.	.;.	0.046857	0.04616	1.282	0.88336276201371966	0.17897	0.00904	0.03537	N	AEFDBI	0.027802	0.02336	N	-1.33806225441425	0.03250	0.1448681	-1.4064561002538	0.03187	0.1481455	0.0416091776877352	0.14491	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.84	-4.59	0.03158	-0.333000	0.07938	-0.436000	0.09190	-1.875000	0.00548	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7062:0.0:0.2938:0.0	11.702	0.50839	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030211	0.035354	0.020380	0.064327	0.000000	0.051724	0.021341	0.011364	0.05263	1447.83	36	chr22	37713346	.	G	A	1447.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.79;DP=733;ExcessHet=0.119;FS=1.313;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.07;SOR=0.574	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1170	17	0	2	0
chr22	37715830	37715830	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon6:c.C524T:p.P175L	Deafness, autosomal recessive 28, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0049426861442	.	.	8.453e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs748115979	3.078e-05	3.078e-05	2.859e-05	3.3e-05	0.0002	2.347e-05	2.095e-05	2.37e-05	2.103e-05	2.987e-05	4.472e-05	0	5.038e-05	0	0.0002	3.237e-05	3.312e-05	1.159e-05	6.574e-06	6.567e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.996342	0.23043	N	1.04	0.26193	L	1.94	0.22678	T	-2.99	0.62151	D	0.431	0.47022	-1.0844	0.06517	T	0.033	0.14029	T	9	0.07089409	0.10375	T	0.004943	0.12442	T	0.066	0.19193	.	.	0.295623431141	0.29171	0.08888650527583479	0.08821	0.11712636649	0.13201	0.399276912212	0.24967	T	0.245191	0.61445	T	-0.339648	0.05412	T	-0.54351	0.17954	T	0.0673072562833666	0.08267	T	0.442656	0.12286	T	0.07654106	0.17318	0.13055143	0.31368	0.07654106	0.17317	0.13055143	0.31367	-3.219	0.12714	T	.	.	0.189	0.40618	B	.;.	.;.	1.244609	0.16405	12.52	0.91844299996967615	0.21156	0.12915	0.17555	N	AEFBHCI	0.047261	0.07940	N	-0.991075304434396	0.08793	0.4136739	-0.915474524023176	0.11728	0.5993244	0.0730757324220181	0.15622	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.12	3.04	0.34171	0.393000	0.20543	1.335000	0.25696	-1.914000	0.00512	0.258000	0.24929	0.755000	0.26580	0.001000	0.02609	0.0:0.7431:0.1677:0.0892	7.346	0.25835	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	653.33	33	chr22	37715830	.	C	T	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=690;ExcessHet=0;FS=1.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.061;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	18	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.02632	1557.33	34	chr22	37723190	.	G	A	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=755;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.151;SOR=1.015	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr22	37723371	37723371	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C815A:p.T272K	Deafness, autosomal recessive 28, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	165838	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00464484305664	0.0012	0.000798722	0.0013	0.0002	0.0004	0	0	0.0022	0	0.0001	0.0013648	211	154602	rs140901235	0.0019	0.0019	0.0019	0.0018	0.0028	0.0018	0.0018	0.0021	0.0021	0.0004	0.0006	0.0043	2.519e-05	9.361e-05	0.0028	0.0022	0.0018	0.0005	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0019	0.0018	0.0003	0	0.0003	0.0032	0	0	0	0.0021	0.0009	0.0008	0.128	0.26965	T	0.018	0.59732	D	0.414	0.35185	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.08	0.20255	T	-0.89	0.24026	N	0.214	0.23884	-1.0299	0.20487	T	0.026	0.11264	T	9	0.0061932504	0.00139	T	0.004645	0.11503	T	0.029	0.06676	.	.	0.339555952218	0.33569	0.07009774652719987	0.06946	0.167212088747	0.18855	0.312932819128	0.12350	T	0.032974	0.22716	T	-0.550518	0.00290	T	-0.568484	0.15589	T	0.00587595227725716	0.00064	T	0.335566	0.07155	T	0.07406218	0.16593	0.07123673	0.15231	0.07406218	0.16593	0.07123673	0.15231	-4.571	0.31805	T	.	.	0.172	0.37783	B	.;.	.;.	0.390479	0.07619	4.284	0.88518785186319515	0.18040	0.17903	0.20036	N	AEFDBI	0.039664	0.05794	N	-0.838717356852208	0.12329	0.6002984	-0.900446420493625	0.12083	0.6195228	0.658293134865331	0.22242	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	3.24	2.22	0.27116	1.699000	0.37423	0.585000	0.19752	0.598000	0.34611	0.002000	0.15269	0.160000	0.23254	0.002000	0.04165	0.0:0.8818:0.0:0.1182	8.730	0.33652	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.017241	0.006098	0.000000	0.02632	2737.33	136	chr22	37723371	.	C	A	2737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=2155;ExcessHet=0;FS=4.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.063;SOR=0.994	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	18	0	1	0
chr22	37723782	37723782	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G1226A:p.R409Q	Deafness, autosomal recessive 28, Autosomal recessive	0	1510	10	0	2	12	0.00330033	.	.	.	1202933	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.012	.	.	0.00499201	0.0031	0.0001	8.651e-05	0.0438	0	1.501e-05	0.0011	0	0.0027555	426	154602	rs148874577	0.0010	0.0010	0.0011	0.0010	0.0320	0.0010	0.0010	0.0305	0.0299	6.376e-05	7.313e-05	0	0.0320	0	0.0002	3.507e-05	0.0015	6.192e-05	0.0010	0.0011	0.0010	0.0011	0.0299	0.0009	0.0009	0.0261	0.0246	0	0	0.0001	0	0.0299	0	0	1.474e-05	0.0010	0	0.479	0.08261	T	0.639	0.06992	T	0.008	0.14655	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.545	0.39105	L	2.0	0.21473	T	-0.02	0.07299	N	0.043	0.01577	-0.9535	0.40363	T	0.008	0.02968	T	9	0.0030727684	0.00051	T	.	.	.	0.012	0.01476	.	.	0.176091768786	0.17195	0.04340369790283395	0.04285	0.287755544216	0.31175	0.194641113281	0.00318	T	0.011106	0.09952	T	-0.704607	0.00034	T	-0.749125	0.03520	T	0.0168701654684973	0.00440	T	0.471453	0.13989	T	0.018842494	0.00408	0.027460767	0.00901	0.02319409	0.01039	0.0325489	0.02008	-5.371	0.40640	T	.	.	0.109	0.20663	B	.;.	.;.	-0.822505	0.01063	0.046	0.93057280668581877	0.22668	0.01636	0.05270	N	AEFBCI	0.028584	0.02545	N	-1.41085451967982	0.02542	0.112409	-1.41621987952494	0.03089	0.1434411	0.0149435139194366	0.12656	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	2.35	0.046	0.13551	-3.693000	0.00439	-7.605000	0.01122	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3276:0.0:0.6724:0.0	5.612	0.16688	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	5545.33	136	chr22	37723782	.	G	A	5545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.38;DP=6125;ExcessHet=0;FS=3.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-1.102;QD=11.36;ReadPosRankSum=-2.244;SOR=0.96	GT:AD:DP:GQ:PL	0/0:411,0:411:99:0,120,1800	18	0	1	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S	Deafness, autosomal recessive 28, Autosomal recessive	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001021	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	288.33	22	chr22	37726466	.	C	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.553;DP=507;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.116;SOR=0.976	GT:AD:DP:GQ:PL	0/0:19,0:19:54:0,54,810	18	0	1	0
chr22	37823563	37823563	C	G	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon1:c.C157G:p.P53A	.	409	1095	16	0	2	18	0.00725295	.	.	.	2822189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00372938010165	0.0044	0.000998403	0.0037	0.0016	0.0025	0	0	0.0047	0.0034	0.0053	0.0033699	521	154602	rs78650836	0.0054	0.0054	0.0054	0.0055	0.0061	0.0053	0.0053	0.0060	0.0059	0.0011	0.0020	0.0109	0	0.0003	0.0061	0.0061	0.0052	0.0047	0.0037	0.0037	0.0040	0.0032	0.0057	0.0034	0.0033	0.0052	0.0050	0.0016	0	0.0021	0.0104	0	0.0002	0.0136	0.0057	0.0028	0.0050	0.344	0.12552	T	0.762	0.04603	T	0.12	0.26678	B	0.023	0.19966	B	0.001413	0.39109	N	0.253805	0.985627	0.24693	N	0.91	0.23283	L	1.23	0.36872	T	-1.24	0.31375	N	0.264	0.29889	-1.0526	0.13682	T	0.031	0.13418	T	10	0.005166143	0.00112	T	0.003729	0.08651	T	0.079	0.23065	.	.	0.561065777782	0.55768	0.12042932136369706	0.11969	0.0635665618396	0.07079	0.426131874323	0.28679	T	0.034868	0.23493	T	-0.476906	0.00771	T	-0.45659	0.26971	T	0.00276266210519693	0.00029	T	0.459554	0.13284	T	0.050487977	0.09128	0.042460885	0.05062	0.050487977	0.09127	0.042460885	0.05062	-5.106	0.37971	T	.	.	0.069	0.03231	B	.	.	1.385777	0.17977	13.48	0.88235374183900261	0.17819	0.83030	0.42184	D	AEFDBI	0.195672	0.32270	N	-0.178552182088162	0.34029	1.937445	0.0200353589479204	0.40646	2.429099	0.999956360252973	0.48110	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	5.25	4.24	0.49486	1.413000	0.34333	2.949000	0.35703	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.094000	0.17991	0.2991:0.6141:0.0:0.0869	6.697	0.22394	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005450	0.000000	0.000000	0.000000	0.012195	0.015152	0.05263	3159.81	114	chr22	37823563	.	C	G	3159.81	.	AC=2;AF=0.053;AN=38;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.98;SOR=1	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	1	0	0
chr22	37878164	37878164	T	C	exonic	EIF3L	.	nonsynonymous SNV	EIF3L:NM_001242923:exon9:c.T1424C:p.I475T,EIF3L:NM_001363785:exon10:c.T1274C:p.I425T,EIF3L:NM_016091:exon11:c.T1568C:p.I523T	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.297544172184	.	.	5.36e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs764111523	3.025e-05	3.01e-05	1.093e-05	4.982e-05	0.0007	2.293e-05	2.043e-05	0.0002	0.0002	0	0	0	2.527e-05	0	0.0007	6.322e-06	4.997e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.31	0.58613	T	-4.2	0.76740	D	0.975	0.98657	0.037	0.82998	D	0.443	0.78039	T	10	0.88166	0.87479	D	0.297544	0.90773	D	0.764	0.92004	0.797	0.91729	0.745575478033	0.74328	.	.	1.94605654675	0.93335	0.935939252377	0.99289	D	0.170089	0.69353	T	0.133651	0.67715	D	0.251763	0.85705	D	0.82005763053894	0.47777	D	0.937806	0.91539	D	0.7191922	0.79117	0.6208672	0.77913	0.7191922	0.79118	0.6208672	0.77914	-11.365	0.81948	D	.	.	0.987	0.92764	P	.;.;.;.;.	.;.;.;.;.	5.816788	0.93681	33	0.99770039139880828	0.85834	0.98403	0.82420	D	AEFBI	0.938828	0.93858	D	0.812945557806427	0.86908	9.039153	0.738936786504492	0.85327	8.547869	0.999991259297995	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.978000	0.87686	7.745000	0.68059	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.697	0.62066	797	0.45241	Proteasome component (PCI) domain;Proteasome component (PCI) domain;.;Proteasome component (PCI) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1245.33	43	chr22	37878164	.	T	C	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=781;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.3;SOR=0.793	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	18	0	1	0
chr22	38126374	38126374	C	T	exonic	PLA2G6	.	nonsynonymous SNV	PLA2G6:NM_001004426:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001199562:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349865:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349866:exon9:c.G1262A:p.R421Q,PLA2G6:NM_001349868:exon9:c.G746A:p.R249Q,PLA2G6:NM_001349864:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349869:exon10:c.G728A:p.R243Q,PLA2G6:NM_003560:exon10:c.G1424A:p.R475Q,PLA2G6:NM_001349867:exon11:c.G890A:p.R297Q	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	413616	not_provided|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0471182130819	0.0004	.	0.0002	0.0003	0	0	0	0.0004	0	0	0.0002329	36	154602	rs139184008	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0016	2.519e-05	1.881e-05	0.0002	0.0004	0.0003	0	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.657e-05	0	0	0.0020	0	0	0	0.0004	0.0010	0	0.253	0.28026	T	0.364	0.32783	T	0.994	0.73220	D	0.787	0.76916	P	0.000958	0.40932	D	0.268963	0.990258	0.46701	D	1.635	0.41844	L	-0.02	0.62918	T	-1.06	0.31778	N	0.608	0.63204	-0.7337	0.58776	T	0.264	0.63490	T	10	0.35130855	0.51983	T	0.047118	0.62773	D	0.258	0.56959	.	.	0.829008885576	0.82739	0.3869740418479153	0.38612	0.308083265394	0.33115	0.385754734278	0.23070	T	0.135549	0.46742	T	-0.204773	0.20121	T	-0.213845	0.53327	T	0.0734766447353229	0.09130	T	0.913509	0.69206	D	0.1078109	0.25493	0.06211176	0.12101	0.1078109	0.25493	0.06211176	0.12100	-6.26	0.48405	T	0.2494021049023694	0.33764	0.093	0.13876	B	.;.;.	.;.;.	4.476773	0.69809	25.4	0.99894829766801296	0.96819	0.76964	0.37792	D	AEFBI	0.107051	0.21341	N	0.229078871002549	0.52614	3.434358	0.21365506149261	0.50604	3.250754	0.999921227522668	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	3.696000	0.54489	7.331000	0.58204	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	13.528	0.61063	364	0.84707	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1456.33	34	chr22	38126374	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=765;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.28;SOR=0.987	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	18	0	1	0
chr22	38479627	38479627	A	G	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon3:c.A227G:p.Y76C,KDELR3:NM_016657:exon3:c.A227G:p.Y76C	.	428	1091	3	0	0	3	0.001373	.	.	.	2194939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.399	0.0570826555456	0.0022	0.000798722	0.0013	0.0007	0.0010	0	0.0003	0.0021	0	6.056e-05	0.0013583	210	154602	rs138428820	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0028	0.0004	0.0013	0.0014	0	3.744e-05	0.0003	0.0029	0.0025	8.115e-05	0.0017	0.0017	0.0019	0.0014	0.0028	0.0015	0.0014	0.0025	0.0023	0.0007	0	0.0018	0.0014	0	9.416e-05	0.0034	0.0028	0.0014	0	0.001	0.78490	D	0.004	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000081	0.52346	D	0.136380	1	0.81001	D	3.515	0.92918	H	1.43	0.32958	T	-7.37	0.94674	D	0.903	0.91162	-0.6145	0.64217	T	0.222	0.58498	T	10	0.18365392	0.33703	T	0.057083	0.66838	D	0.399	0.71321	.	.	0.631991100555	0.62898	0.8996169807100582	0.89933	0.636485330351	0.57427	0.770579576492	0.77512	T	0.186756	0.54015	T	-0.16837	0.25483	T	-0.0179935	0.69161	D	0.10515662794616	0.12914	T	0.90311	0.66064	D	0.73742366	0.80145	0.67704815	0.81033	0.73742366	0.80147	0.67704815	0.81034	-7.767	0.59506	D	.	.	0.089	0.18497	B	.;.	.;.	4.978708	0.82446	27.8	0.99816654302581742	0.89973	0.90087	0.50994	D	AEFDBCI	0.824486	0.74437	D	0.700121505191781	0.79638	7.120553	0.594891365583138	0.74573	6.159959	0.999989539708749	0.51787	0.67177	0.52595	0	0.577304	0.33150	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.63	3.58	0.40133	7.353000	0.78667	11.144000	0.87156	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8552:0.0:0.0:0.1448	10.546	0.44249	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1294.33	42	chr22	38479627	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.843;SOR=0.748	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chr22	38682432	38682432	A	G	exonic	TOMM22	.	nonsynonymous SNV	TOMM22:NM_020243:exon2:c.A227G:p.K76R	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0530367961043	7.7e-05	.	0.0002	0.0002	0	0	0	0.0004	0	0.0002	0.0002005	31	154602	rs144614555	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0.0019	0	7.49e-05	0	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.656e-05	0	0	0.0020	0	9.423e-05	0	0.0003	0	0	0.269	0.16091	T	0.248	0.23845	T	0.999	0.77913	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.09	0.87444	M	.	.	.	-1.59	0.38345	N	0.2	0.22098	-0.1417	0.79123	T	0.457	0.78872	T	9	0.05865103	0.06929	T	0.053037	0.65308	D	0.402	0.71558	.	.	0.409069985131	0.40521	0.4947102426998851	0.49392	0.718610679393	0.62102	0.748560249805	0.74234	T	0.139588	0.47369	T	-0.0543263	0.43789	T	-0.0154885	0.69325	D	0.293455451726913	0.24733	T	0.730127	0.34567	T	0.35078353	0.57128	0.22174244	0.46995	0.35078353	0.57129	0.22174244	0.46994	-4.22	0.27040	T	.	.	0.130	0.27998	B	.	.	4.892187	0.80333	27.3	0.99828092720263095	0.91026	0.94228	0.60504	D	AEBCI	0.890882	0.82633	D	0.714501635042143	0.80583	7.326432	0.6716073211418	0.80229	7.252622	0.999999999991067	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	5.420000	0.66180	10.982000	0.84611	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.138	0.72264	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1776.33	39	chr22	38682432	.	A	G	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.988;DP=765;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.644;SOR=0.607	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1151	18	0	1	0
chr22	38738676	38738676	G	A	exonic	SUN2	.	nonsynonymous SNV	SUN2:NM_001199579:exon16:c.C1921T:p.R641C,SUN2:NM_015374:exon16:c.C1858T:p.R620C,SUN2:NM_001199580:exon17:c.C1858T:p.R620C	.	412	1100	10	0	0	10	0.00452489	.	.	.	470275	Emery-Dreifuss_muscular_dystrophy|not_provided	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.734	0.357292652703	0.0009	0.000199681	0.0012	0.0003	0.0009	0	0	0.0019	0.0022	0.0002	0.001119	173	154602	rs141013997	0.0008	0.0008	0.0008	0.0009	0.0069	0.0008	0.0008	0.0052	0.0046	0.0001	0.0007	0.0192	0	0	0.0069	0.0004	0.0022	0.0005	0.0009	0.0009	0.0009	0.0010	0.0010	0.0008	0.0008	0.0006	0.0005	0.0002	0	0.0010	0.0193	0	9.413e-05	0.0034	0.0007	0.0019	0.0002	0.003	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	0.000351	0.45440	D	0.165044	0.999913	0.51042	D	2.085	0.57729	M	0.94	0.43672	T	-3.41	0.76496	D	0.812	0.84298	-0.6561	0.62447	T	0.253	0.62292	T	10	0.014749527	0.00310	T	0.357293	0.92422	D	0.734	0.90721	.	.	0.585991418203	0.58272	0.7488783698995153	0.74833	1.01764542329	0.74999	0.513557076454	0.40720	T	0.312551	0.68436	T	-0.310944	0.07665	T	-0.298687	0.44862	T	0.0222263088075782	0.00934	T	0.887811	0.61653	D	0.60911703	0.73181	0.36958334	0.62225	0.60911703	0.73182	0.36958334	0.62225	-8.165	0.62189	D	.	.	0.116	0.29116	B	.;.;.;.	.;.;.;.	5.177227	0.86797	29.0	0.9992864996795856	0.99222	0.96068	0.67388	D	AEFDBHCI	0.312712	0.41807	N	0.580855858544567	0.71982	5.734294	0.524369276541453	0.69633	5.388466	0.999927484877244	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	1.923000	0.39685	7.498000	0.59452	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0789:0.0:0.9211:0.0	12.905	0.57542	824	0.40336	SUN domain|SUN domain;.;SUN domain|SUN domain;SUN domain|SUN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	1376.33	36	chr22	38738676	.	G	A	1376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=766;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.666;SOR=0.421	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1269	18	0	1	0
chr22	39025668	39025668	T	G	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_152426:exon4:c.T602G:p.L201R	.	.	.	.	.	.	.	.	.	.	.	3464018	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0164720024081	.	.	4.942e-05	0	0	0	0	8.991e-05	0	0	3.88e-05	6	154602	rs758212292	2.668e-05	2.668e-05	2.586e-05	2.75e-05	0.0033	1.997e-05	1.754e-05	0.0022	0.0018	0	0	0	0	0	0.0033	1.259e-05	9.935e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.854	0.60866	P	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.22	0.66474	T	-5.01	0.82450	D	0.43	0.46928	-0.8493	0.52017	T	0.262	0.63264	T	9	0.43628725	0.57814	T	0.016472	0.37742	T	0.238	0.54217	0.697	0.83406	0.326345978581	0.32251	0.5009190237559433	0.50013	0.385891351295	0.39878	0.505761861801	0.39630	T	0.356965	0.72374	T	-0.0243066	0.48238	T	-0.0810087	0.64830	T	0.313861044729907	0.25572	T	0.669433	0.27806	T	0.7091172	0.78559	0.6276916	0.78290	0.7091172	0.78561	0.6276916	0.78291	-4.067	0.24802	T	.	.	0.207	0.44643	B	.;.	.;.	2.598714	0.33727	19.42	0.99264149090598885	0.57322	0.04400	0.09985	N	AEFBI	0.040799	0.06120	N	-0.411462036214228	0.25066	1.358009	-0.653432655746747	0.18130	0.9671546	0.996645740120915	0.34891	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	2.44	1.33	0.20958	1.031000	0.29773	-1.697000	0.04895	0.632000	0.51917	0.010000	0.18352	0.000000	0.08366	0.033000	0.13494	0.2888:0.0:0.0:0.7112	4.548	0.11488	350	0.85473	.;Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4628.33	374	chr22	39025668	.	T	G	4628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=1036;ExcessHet=0;FS=0.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.147;SOR=0.637	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1266	18	0	1	0
chr22	39052233	39052233	A	G	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_145298:exon6:c.A883G:p.S295G	.	402	1118	2	0	0	2	0.000893655	.	.	.	2456770	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.031898154764	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001035	16	154602	rs151229697	5.062e-05	5.062e-05	4.764e-05	5.363e-05	0.0003	4.125e-05	3.778e-05	0.0002	0.0002	0	0	0.0008	0	0	0	1.529e-05	0.0001	0.0003	4.599e-05	4.596e-05	5.139e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0.0002	0.113	0.28772	T	0.316	0.19362	T	0.961	0.55431	D	0.676	0.53321	P	.	.	.	.	1	0.21346	N	2.025	0.55430	M	-0.04	0.63240	T	-1.89	0.44094	N	0.049	0.02088	-0.7707	0.56820	T	0.205	0.56321	T	9	0.05617079	0.06254	T	0.031898	0.53866	D	0.193	0.47281	.	.	0.471778926243	0.46806	0.0887158821588344	0.08804	0.591036329476	0.54550	0.301786571741	0.10667	T	0.006186	0.05627	T	-0.428602	0.01511	T	-0.593754	0.13343	T	0.0832035512842411	0.10391	T	0.167583	0.01563	T	0.16518688	0.36774	0.23087206	0.48202	0.16518688	0.36773	0.23087206	0.48201	-5.989	0.46188	T	.	.	0.084	0.09627	B	.	.	0.034894	0.04527	1.224	0.90160289893740408	0.19438	0.01470	0.04904	N	AEFDGBI	0.066327	0.12983	N	-0.992757457919468	0.08757	0.4118644	-1.2799954953458	0.04701	0.2223724	0.994618238400915	0.33720	0.706298	0.61202	0	0.643519	0.57511	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	2.79	-5.57	0.02321	-0.091000	0.11111	-20.000000	0.00162	-1.496000	0.01037	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1529:0.7389:0.1082:0.0	11.556	0.50001	344	0.85734	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4711.33	418	chr22	39052233	.	A	G	4711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.135;DP=1048;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.19;MQRankSum=-1.152;QD=11.27;ReadPosRankSum=-0.859;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	18	0	1	0
chr22	39102545	39102545	G	C	exonic	APOBEC3H	.	nonsynonymous SNV	APOBEC3H:NM_001166004:exon4:c.G452C:p.G151A,APOBEC3H:NM_001166003:exon5:c.G577C:p.D193H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00154844981851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202632819	7.064e-06	6.359e-06	0	1.309e-05	0.0002	1.65e-06	1.12e-06	1.05e-06	3.9e-07	0	0	0	0	0	0.0002	6.308e-06	3.257e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-0.26	0.67187	T	-1.05	0.27463	N	0.227	0.25499	-0.9718	0.36819	T	0.111	0.39770	T	6	0.08945629	0.15496	T	0.001548	0.02445	T	0.033	0.08068	0.487	0.57098	0.043077524339	0.03247	0.4784843010069408	0.47768	0.460280711038	0.45581	0.463977277279	0.33855	T	0.007321	0.06733	T	-0.142659	0.29468	T	-0.42721	0.30252	T	0.107495211967754	0.13162	T	0.435056	0.11905	T	0.10806824	0.25552	0.20940018	0.45283	0.10806824	0.25551	0.20940018	0.45282	-5.07	0.37590	T	.	.	0.209	0.43585	B	.;.	.;.	0.888988	0.12623	9.150	0.84500265714197664	0.15328	0.00701	0.02979	N	AEFDI	0.026376	0.01968	N	-0.878143197625299	0.11364	0.5480013	-1.06280640069701	0.08442	0.4151037	0.0151033343208094	0.12675	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.131	0.131	0.14055	0.199000	0.17037	0.667000	0.20560	0.217000	0.18040	0.070000	0.22072	0.005000	0.19230	0.046000	0.14843	.	.	.	314	0.87270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	33	chr22	39102545	.	G	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.907;DP=731;ExcessHet=0;FS=7.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.422;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1157	18	0	1	0
chr22	39364270	39364270	A	G	exonic	SYNGR1	.	nonsynonymous SNV	SYNGR1:NM_145738:exon1:c.A76G:p.S26G	.	417	1091	13	1	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0043	0.00798722	0.0042	0.0096	0.0092	0	0	0.0042	0.0099	0.0003	0.0041785	646	154602	rs77424082	0.0034	0.0034	0.0034	0.0033	0.0240	0.0033	0.0033	0.0207	0.0195	0.0093	0.0100	0.0266	0	7.491e-05	0.0240	0.0025	0.0083	0.0003	0.0061	0.0061	0.0065	0.0057	0.0142	0.0058	0.0057	0.0127	0.0121	0.0089	0	0.0142	0.0242	0	0.0005	0.0442	0.0030	0.0175	0.0002	0.079	0.33753	T	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.46	0.35792	N	0.117	0.10626	-1.0215	0.23227	T	0.043	0.18576	T	7	0.0036369264	0.00066	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.702086	0.00035	T	-0.773313	0.02661	T	0.00149790500072616	0.00015	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.079	0.07460	B	.	.	0.973775	0.13511	10.03	0.74917177669923385	0.10876	0.00080	0.00545	N	AEFDGBHCI	0.011557	0.00105	N	-1.26110416149846	0.04155	0.1869824	-1.39628340502482	0.03291	0.1532431	0.999999853745799	0.74766	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.03	-2.36	0.06282	0.258000	0.18156	-0.569000	0.08436	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.182:0.0:0.378:0.44	2.541	0.04438	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037764	0.146465	0.046196	0.011696	0.000000	0.017241	0.006098	0.000000	0.02632	1450.33	35	chr22	39364270	.	A	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=737;ExcessHet=0;FS=4.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.553;SOR=1.159	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1340	18	0	1	0
chr22	39513721	39513721	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G790A:p.D264N,MIEF1:NM_019008:exon6:c.G790A:p.D264N	.	426	1081	15	0	0	15	0.00689022	.	.	.	3407988	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.342	.	0.0078	0.00199681	0.0062	0.0016	0.0016	0	0.0055	0.0093	0.0088	0.0033	0.0066235	1024	154602	rs2232091	0.0090	0.0090	0.0092	0.0088	0.0109	0.0089	0.0088	0.0107	0.0106	0.0013	0.0021	0.0007	2.519e-05	0.0049	0.0010	0.0109	0.0061	0.0038	0.0062	0.0062	0.0068	0.0056	0.0106	0.0058	0.0057	0.0100	0.0097	0.0017	0.0011	0.0041	0	0	0.0044	0	0.0106	0.0061	0.0046	0.127	0.27783	T	0.195	0.29639	T	0.722	0.42387	P	0.383	0.43945	B	0.000037	0.55875	D	0.195954	0.999756	0.48800	D	-0.11	0.04642	N	3.09	0.08371	T	-1.14	0.33998	N	0.314	0.35408	-1.1016	0.03903	T	0.022	0.09467	T	10	0.0066976547	0.00152	T	.	.	.	0.342	0.66392	.	.	0.505640481493	0.50201	0.26399582594437004	0.26312	0.396982738473	0.40801	0.562705039978	0.47649	T	0.016089	0.13370	T	-0.639447	0.00084	T	-0.679622	0.07007	T	0.0437599858947382	0.04377	T	0.711829	0.32527	T	0.1715629	0.37797	0.24830832	0.50379	0.1715629	0.37796	0.24830832	0.50378	-5.711	0.43791	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.298561	0.65610	24.9	0.99827324287167707	0.90939	0.99524	0.97054	D	AEFDBI	0.926441	0.90755	D	0.38966932153605	0.60862	4.27994	0.548490651309824	0.71293	5.632706	1.0	0.98316	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.992000	0.99232	7.577000	0.60860	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	20.644	0.99572	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2621.33	33	chr22	39513721	.	G	A	2621.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.757;DP=844;ExcessHet=0;FS=1.038;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.156;SOR=0.792	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	0	1	0
chr22	39649779	39649779	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1741C:p.D581H,CACNA1I:NM_021096:exon10:c.G1846C:p.D616H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.254232193759	.	0.000798722	0.0003	0	0	0.0028	0	9.699e-05	0.0056	0.0002	0.000194	30	154602	rs376280976	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0	0.0002	0	0.0049	0	0.0003	4.236e-05	0.0002	0.0002	0.0004	0.0004	0.0003	0.0005	0.0029	0.0003	0.0003	0.0018	0.0014	0	0	0.0021	0	0.0029	0	0	8.821e-05	0.0005	0.0002	0.126	0.27544	T	0.109	0.37449	T	0.846	0.56202	P	0.568	0.55653	P	.	.	.	.	1	0.08975	N	1.5	0.37844	L	-4.1	0.96772	D	-1.52	0.38151	N	0.341	0.39558	0.302	0.87585	D	0.829	0.94274	D	9	0.018936932	0.00417	T	0.254232	0.89243	D	0.328	0.65026	0.333	0.32005	0.79263677779	0.79070	0.3294763649525741	0.32860	1.55342139038	0.87936	0.564474701881	0.47899	T	0.022851	0.17544	T	-0.197954	0.21101	T	-0.0761383	0.65184	T	0.101666132546159	0.12539	T	0.761424	0.38629	T	0.06623455	0.14232	0.09287983	0.21909	0.06623455	0.14232	0.09287983	0.21909	-3.304	0.14629	T	.	.	0.087	0.18080	B	.;.;.;.	.;.;.;.	2.707542	0.35383	19.88	0.95842216399390046	0.27968	0.44642	0.27363	N	AEFBI	0.271002	0.38695	N	-0.243173783669057	0.31376	1.758717	-0.365976070487161	0.26020	1.434533	0.517524282649979	0.21068	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.78	2.76	0.31527	6.511000	0.73644	3.280000	0.37224	0.676000	0.76740	0.998000	0.41325	0.736000	0.26449	0.026000	0.12556	0.098:0.0:0.902:0.0	11.024	0.46953	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1388.33	35	chr22	39649779	.	G	C	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=767;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.69;SOR=0.534	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1510	18	0	1	0
chr22	40261873	40261873	G	A	exonic	TNRC6B	.	nonsynonymous SNV	TNRC6B:NM_001162501:exon4:c.G157A:p.A53T,TNRC6B:NM_015088:exon4:c.G157A:p.A53T,TNRC6B:NM_001024843:exon7:c.G265A:p.A89T	.	.	.	.	.	.	.	.	.	.	.	2414163	Global_developmental_delay_with_speech_and_behavioral_abnormalities	MONDO:MONDO:0030995,MedGen:C5543226,OMIM:619243	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.00445318458012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765835653	9.769e-06	1.779e-05	5.519e-06	1.412e-05	6.041e-05	5.67e-06	4.44e-06	1e-05	3.74e-06	6.041e-05	0	0	5.128e-05	0	0	8.266e-06	0	1.175e-05	6.572e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.152	0.43708	T	0.576	0.39340	T	0.988	0.62325	D	0.668	0.53048	P	0.000001	0.62929	D	0.056280	0.999023	0.45899	D	1.79	0.46772	L	2.56	0.13673	T	-0.16	0.22727	N	0.562	0.76666	-1.2030	0.00128	T	0.064	0.26667	T	10	0.34540975	0.51515	T	0.004453	0.10906	T	0.201	0.48592	0.123	0.02942	0.292174397486	0.28832	0.17834275956052	0.17753	0.62463084654	0.56666	0.616139173508	0.55182	T	0.016269	0.13483	T	-0.0959723	0.37090	T	-0.375634	0.36232	T	0.670507322091221	0.39360	D	0.907509	0.67274	D	0.14077714	0.32465	0.21697196	0.46345	0.14077714	0.32465	0.21697196	0.46344	-3.571	0.17438	T	.	.	0.081	0.09917	B	.;.;.;.	.;.;.;.	5.712454	0.93179	33	0.99942888784504647	0.99848	0.93771	0.59144	D	AEFDBI	0.350878	0.44417	N	0.608872817161754	0.73734	6.014947	0.670826375410627	0.80168	7.239673	0.999993684615369	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	6.526000	0.73708	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.321	0.98679	636	0.64483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1533.33	34	chr22	40261873	.	G	A	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.272;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	18	0	1	0
chr22	40401643	40401643	T	C	exonic	SGSM3	.	nonsynonymous SNV	SGSM3:NM_001350039:exon3:c.T58C:p.W20R,SGSM3:NM_001350040:exon3:c.T58C:p.W20R,SGSM3:NM_001350041:exon3:c.T58C:p.W20R,SGSM3:NM_015705:exon3:c.T58C:p.W20R	.	421	1090	11	0	0	11	0.00502054	.	.	.	717468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0081	0.00199681	0.0057	0.0013	0.0024	0	0.0036	0.0085	0.0033	0.0031	0.006106	944	154602	rs9611338	0.0099	0.0099	0.0101	0.0098	0.0119	0.0098	0.0097	0.0117	0.0116	0.0018	0.0026	0.0018	2.522e-05	0.0039	0.0014	0.0119	0.0095	0.0036	0.0066	0.0066	0.0075	0.0055	0.0117	0.0062	0.0061	0.0110	0.0107	0.0022	0.0011	0.0029	0.0020	0	0.0025	0.0034	0.0117	0.0066	0.0039	0.011	0.55530	D	0.165	0.30926	T	0.945	0.53279	P	0.655	0.52639	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.62	0.12988	T	-6.75	0.92692	D	0.479	0.51405	-1.1243	0.02076	T	0.060	0.25163	T	10	0.005639255	0.00125	T	.	.	.	0.195	0.47612	0.455	0.51938	0.337135696972	0.33324	0.8847486013655412	0.88442	0.735908187759	0.62974	0.790959715843	0.80589	T	0.282473	0.65522	T	-0.494434	0.00614	T	-0.471966	0.25304	T	0.0472787048177141	0.05015	T	0.59724	0.22223	T	0.7775979	0.82506	0.6529703	0.79689	0.7775979	0.82508	0.6529703	0.79690	-1.866	0.02713	T	.	.	0.741	0.74676	P	.	.	4.100340	0.61129	24.3	0.99088807285813152	0.52149	0.92541	0.55954	D	AEFGBHCI	0.715042	0.66733	D	0.525838648123911	0.68622	5.24269	0.504887910845567	0.68318	5.203652	0.999999999974548	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.45	4.42	0.52775	5.453000	0.66386	4.174000	0.42293	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.071:0.0:0.929	11.358	0.48867	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	939.33	34	chr22	40401643	.	T	C	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.745;DP=686;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.685;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	40407266	40407266	C	T	exonic	SGSM3	.	nonsynonymous SNV	SGSM3:NM_001301849:exon11:c.C1117T:p.R373W,SGSM3:NM_001350043:exon11:c.C1105T:p.R369W,SGSM3:NM_001350044:exon11:c.C1117T:p.R373W,SGSM3:NM_001350046:exon11:c.C1105T:p.R369W,SGSM3:NM_001350047:exon11:c.C1105T:p.R369W,SGSM3:NM_001350048:exon11:c.C808T:p.R270W,SGSM3:NM_001350039:exon12:c.C1306T:p.R436W,SGSM3:NM_001350040:exon12:c.C1306T:p.R436W,SGSM3:NM_001350041:exon12:c.C1306T:p.R436W,SGSM3:NM_001350042:exon12:c.C1117T:p.R373W,SGSM3:NM_001350045:exon12:c.C1117T:p.R373W,SGSM3:NM_015705:exon12:c.C1306T:p.R436W	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.139444941226	.	0.000599042	0.0006	0	8.678e-05	0	0	0	0	0.0045	0.000511	79	154602	rs548167730	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0039	0.0038	5.974e-05	4.472e-05	0	2.519e-05	0	0.0003	2.158e-05	0.0002	0.0043	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	7.215e-05	0	0	0	0	0	0	2.94e-05	0	0.0062	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.116358	1	0.81001	D	2.73	0.79844	M	2.17	0.19020	T	-6.42	0.91268	D	0.887	0.88577	-0.8651	0.50893	T	0.141	0.46035	T	10	0.060114175	0.07334	T	0.139445	0.82192	D	0.377	0.69527	0.466	0.53729	0.319970858106	0.31615	0.7812922865433886	0.78080	0.674172896119	0.59628	0.795959234238	0.81347	T	0.384364	0.74600	T	-0.106566	0.35336	T	0.0745528	0.75214	D	0.267925460727783	0.23658	T	0.986201	0.95317	D	0.73464227	0.79987	0.57844365	0.75570	0.73464227	0.79988	0.57844365	0.75571	-11.493	0.82293	D	.	.	0.785	0.76605	P	.	.	5.505679	0.91630	32	0.99895967007942921	0.96895	0.97019	0.72221	D	AEFBCI	0.818709	0.73990	D	0.294075110675327	0.55847	3.748893	0.222151738031623	0.51078	3.293562	0.999933378173169	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.48	4.47	0.53770	1.997000	0.40406	4.896000	0.45813	-0.178000	0.10482	0.998000	0.41325	1.000000	0.68203	0.795000	0.37519	0.1369:0.8631:0.0:0.0	15.847	0.78680	554	0.71839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2606.33	38	chr22	40407266	.	C	T	2606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=951;ExcessHet=0;FS=9.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.186;SOR=0.319	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	18	0	1	0
chr22	40777114	40777114	T	C	exonic	SLC25A17	.	nonsynonymous SNV	SLC25A17:NM_001282727:exon5:c.A400G:p.I134V,SLC25A17:NM_006358:exon7:c.A619G:p.I207V,SLC25A17:NM_001282726:exon8:c.A508G:p.I170V	.	428	1085	9	0	0	9	0.00413034	.	.	.	2371301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.00789452148917	0.0014	.	0.0011	9.649e-05	0.0002	0	0	0.0016	0	0.0016	0.0010414	161	154602	rs137901231	0.0010	0.0010	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	0.0002	0.0004	0.0042	0	5.616e-05	0.0031	0.0010	0.0012	0.0015	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	9.63e-05	0	0.0004	0.0043	0	0	0	0.0012	0.0014	0.0010	1.0	0.02061	T	0.595	0.08079	T	0.0	0.02946	B	0.002	0.06944	B	0.007057	0.31632	N	0.391931	0.563289	0.32231	D	0	0.06538	N	-1.29	0.79475	T	-0.16	0.09460	N	0.091	0.06990	-0.9162	0.46063	T	0.171	0.51165	T	10	0.009247631	0.00209	T	0.007895	0.20929	T	0.160	0.41473	.	.	0.40218521252	0.39833	0.3592612947201606	0.35840	0.143840373198	0.16248	0.384690880775	0.22920	T	0.068429	0.34184	T	-0.411672	0.01938	T	-0.394194	0.34062	T	0.0030759433623681	0.00032	T	0.743726	0.43180	T	0.017542277	0.00282	0.031532098	0.01756	0.017542277	0.00282	0.031532098	0.01755	-4.184	0.26519	T	.	.	0.068	0.06525	B	.;.;.	.;.;.	1.047176	0.14282	10.86	0.64023659727302473	0.07380	0.18342	0.20221	N	AEFBI	0.098169	0.19787	N	-0.884407868188073	0.11213	0.5399018	-0.730510836240321	0.16203	0.8560009	0.0640460635558164	0.15317	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.344	0.12001	-0.067000	0.11538	-0.386000	0.09508	0.665000	0.62972	0.812000	0.29879	0.209000	0.23629	0.997000	0.79791	0.0:0.3821:0.1171:0.5008	7.581	0.27130	245	0.90404	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.005102	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.05263	4897.81	37	chr22	40777114	.	T	C	4897.81	.	AC=2;AF=0.053;AN=38;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	18	1	0	0
chr22	40861735	40861735	C	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.G260C:p.G87A	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	.	0.00439297	0.0016	0	8.637e-05	0.0207	0	0	0	0.0010	0.0014683	227	154602	rs141187399	0.0006	0.0006	0.0005	0.0006	0.0164	0.0005	0.0005	0.0154	0.0149	0	4.479e-05	0	0.0164	0	0.0002	8.094e-06	0.0007	0.0015	0.0008	0.0008	0.0007	0.0009	0.0208	0.0007	0.0006	0.0177	0.0165	0	0	6.541e-05	0	0.0208	0	0	1.47e-05	0.0009	0.0017	0.059	0.37536	T	0.077	0.42436	T	0.107	0.26081	B	0.065	0.27321	B	0.145045	0.18158	N	0.477209	0.527657	0.31517	N	2.025	0.55430	M	-0.79	0.73739	T	-3.4	0.67014	D	0.203	0.22486	-0.4857	0.69162	T	0.203	0.55961	T	10	0.0066074133	0.00150	T	.	.	.	0.187	0.46274	.	.	0.930476314975	0.92976	0.4202435528629939	0.41940	0.0180164472936	0.01760	0.249106943607	0.03674	T	0.208156	0.56800	T	-0.453594	0.01075	T	-0.407413	0.32525	T	0.0452882442347557	0.04655	T	0.19528	0.02139	T	0.12542234	0.29403	0.1774933	0.40355	0.12542234	0.29402	0.1774933	0.40354	-7.615	0.58415	D	.	.	0.105	0.19073	B	.	.	1.002031	0.13805	10.36	0.72105323939485821	0.09858	0.27521	0.23301	N	AEFBI	0.095051	0.19209	N	-0.690001154369358	0.16305	0.8295599	-0.708626962299811	0.16745	0.8873194	0.959007647649708	0.28398	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.7	3.69	0.41483	-0.143000	0.10278	0.224000	0.16109	-0.255000	0.07062	0.000000	0.06391	0.010000	0.20010	0.073000	0.16832	0.0:0.9126:0.0:0.0874	11.570	0.50083	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	33	chr22	40861735	.	C	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.664;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr22	41149155	41149155	G	A	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon12:c.G2281A:p.G761S,EP300:NM_001429:exon13:c.G2359A:p.G787S	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	257687	Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|not_specified	MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0186976798214	.	0.000399361	0.0003	0.0002	0.0002	0	0	1.498e-05	0	0.0019	0.0002458	38	154602	rs564786569	0.0001	0.0001	6.942e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	8.961e-05	0.0002	0	7.558e-05	0	0.0005	1.169e-05	0.0002	0.0018	0.0001	0.0001	0.0001	0.0001	0.0023	6.523e-05	5.332e-05	0.0013	0.0010	4.827e-05	0	6.555e-05	0	0.0002	0	0	1.471e-05	0	0.0023	0.545	0.06691	T	0.467	0.12351	T	0.614	0.39766	P	0.177	0.35687	B	0.262329	0.15290	N	0.541388	0.999999	0.08975	N	0	0.06538	N	-1.62	0.82347	D	0.08	0.06026	N	0.247	0.27910	-0.7802	0.56291	T	0.209	0.56893	T	10	0.013831556	0.00292	T	0.018698	0.40848	T	0.173	0.43840	0.313	0.28774	0.791059030031	0.78911	0.16855302755779544	0.16775	.	.	0.339284896851	0.16331	T	0.338372	0.70765	T	-0.461073	0.00968	T	-0.441552	0.28634	T	0.0149995088491103	0.00322	T	0.729327	0.34443	T	0.028906114	0.02301	0.04486341	0.05907	0.030345816	0.02682	0.043774564	0.05522	-2.065	0.03436	T	0.0801814176904869	0.04020	0.058	0.00636	B	.	.	2.494504	0.32192	18.97	0.9202276891152873	0.21361	0.51335	0.28872	D	AEFBI	0.067668	0.13314	N	-0.560732323898058	0.20149	1.060039	-0.495576753691855	0.22274	1.20909	0.038073703607303	0.14329	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-0.572	0.11157	2.496000	0.45006	2.506000	0.33051	0.676000	0.76740	1.000000	0.71638	0.996000	0.32793	0.980000	0.58198	0.6823:0.0:0.3177:0.0	8.441	0.31977	285	0.88719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	985.33	38	chr22	41149155	.	G	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.535;DP=794;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-1.153;SOR=0.615	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1312	18	0	1	0
chr22	41238078	41238078	A	G	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.T994C:p.S332P	.	452	1057	12	1	0	14	0.00657895	.	.	.	2347163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.557145678989	.	.	0	.	0	.	.	0	0	0	3.84e-05	1	26028	rs755194551	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0032	0.0030	0	0.0001	0	3.824e-05	0	0.0033	2.95e-05	0.0004	0.0038	0.0002	0.0002	0.0001	0.0003	0.0042	0.0002	0.0001	0.0028	0.0023	2.427e-05	0	0.0004	0	0.0004	0	0	5.952e-05	0.0005	0.0042	0.369	0.11586	T	0.165	0.30926	T	0.815	0.45525	P	0.274	0.40037	B	0.051785	0.22951	N	0.397144	1	0.08975	N	0.47	0.13106	N	0.22	0.59851	T	-0.09	0.08340	N	0.206	0.22870	-0.9785	0.35345	T	0.104	0.38243	T	10	0.044615835	0.03439	T	0.557146	0.95942	D	0.080	0.23350	0.315	0.29096	0.263140351381	0.25927	0.2954393941868553	0.29456	0.0445187300976	0.04807	0.871395349503	0.92767	D	0.002134	0.01537	T	-0.0684965	0.41567	T	-0.336167	0.40778	T	0.284155040979385	0.24345	T	0.552145	0.19060	T	0.08458383	0.19585	0.12655723	0.30478	0.08458383	0.19585	0.12655723	0.30477	-1.843	0.02640	T	.	.	0.225	0.45653	B	.	.	2.142989	0.27288	17.41	0.98117474734074439	0.38407	0.04016	0.09447	N	AEFDBCIJ	0.058885	0.11081	N	-0.444567700248682	0.23925	1.288218	-0.528128382001617	0.21391	1.15694	0.999998958435255	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.166054	0.03999	2	0.603991	0.37454	0	.	.	4.31	-2.29	0.06419	0.706000	0.25365	0.597000	0.19884	0.654000	0.53741	0.026000	0.20160	0.090000	0.22521	0.921000	0.45669	0.1998:0.6025:0.092:0.1057	5.635	0.16809	159	0.93837	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	328.83	20	chr22	41238078	.	A	G	328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.386;DP=450;ExcessHet=0.119;FS=1.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.691;SOR=0.421	GT:AD:DP:GQ:PL	0/1:10,10:20:99:258,0,318	17	0	2	0
chr22	41436552	41436552	C	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.G794A:p.G265D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0149752203836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210860132	6.175e-06	6.156e-06	8.189e-06	4.139e-06	2.991e-05	2.91e-06	2.1e-06	3.87e-06	1.45e-06	2.991e-05	0	0	0	0	0	5.405e-06	0	2.331e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.025	0.56192	D	0.014	0.16867	B	0.031	0.21939	B	0.548563	0.11460	N	0.741487	1	0.08975	N	1.7	0.43825	L	0.88	0.46028	T	-0.87	0.23590	N	0.184	0.19995	-1.0226	0.22866	T	0.078	0.31133	T	10	0.11498082	0.21650	T	0.014975	0.35442	T	0.057	0.16321	0.371	0.38176	0.232442253697	0.22838	0.4147161350501113	0.41387	0.481875976555	0.47160	0.449853777885	0.31923	T	0.210713	0.57128	T	-0.114982	0.33948	T	-0.40294	0.33043	T	0.0993715338914697	0.12288	T	0.705929	0.31637	T	0.11415233	0.26951	0.119358666	0.28810	0.11415233	0.26951	0.119358666	0.28810	-5.637	0.43129	T	.	.	0.297	0.52744	B	.	.	1.651154	0.21067	15.03	0.95982833211504093	0.28363	0.33980	0.24959	N	AEFDBCI	0.179333	0.30662	N	-0.667686107913049	0.16947	0.8678911	-0.645865558408236	0.18321	0.9781896	0.999906629194765	0.45458	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.55	3.52	0.39415	1.225000	0.32154	1.728000	0.28308	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.044000	0.14658	0.0:0.8091:0.1909:0.0	10.818	0.45788	180	0.92993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2457.33	33	chr22	41436552	.	C	T	2457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.375;DP=837;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.311;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1515	18	0	1	0
chr22	41436852	41436852	G	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.C494A:p.T165N	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0144140388169	.	.	2.48e-05	0	0	0	0	4.512e-05	0	0	1.94e-05	3	154602	rs765640014	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.155	0.31936	T	0.975	0.58077	D	0.717	0.54739	P	0.000014	0.62929	D	0.115830	0.99976	0.48888	D	2.135	0.59519	M	0.73	0.50721	T	-1.34	0.33401	N	0.377	0.41853	-0.7471	0.58087	T	0.232	0.59769	T	10	0.26691434	0.44200	T	0.014414	0.34508	T	0.143	0.38195	0.18	0.08751	0.198222871337	0.19423	0.5638141198988336	0.56308	1.03443667668	0.75538	0.604209661484	0.53498	T	0.280127	0.65283	T	-0.185173	0.22969	T	-0.322237	0.42329	T	0.481581926345825	0.31955	T	0.939806	0.77272	D	0.32971075	0.55448	0.35554886	0.61080	0.32971075	0.55448	0.35554886	0.61080	-4.13	0.25730	T	.	.	0.311	0.53868	B	.	.	4.374604	0.67375	25.1	0.99239173583235385	0.56469	0.98053	0.79201	D	AEFBCI	0.885971	0.81695	D	0.757652087427888	0.83404	8.008275	0.798160887866802	0.89665	10.070	0.99999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.831000	0.75116	9.973000	0.82874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	180	0.92993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1533.33	33	chr22	41436852	.	G	T	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=917;ExcessHet=0;FS=2.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-1.767;SOR=0.973	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1515	18	0	1	0
chr22	41753964	41753964	C	G	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon17:c.C1869G:p.N623K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0248532985239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.0	0.92824	D	0.867	0.47667	P	0.461	0.46460	P	0.000000	0.84330	D	0.049311	1	0.81001	D	2.455	0.71248	M	3.65	0.04267	T	-2.31	0.53096	N	0.926	0.93018	-0.8925	0.48713	T	0.015	0.05897	T	10	0.6763918	0.71016	D	0.024853	0.47835	T	0.149	0.39377	0.325	0.30711	0.184867976434	0.18130	0.5026059203935608	0.50182	0.546491555766	0.51644	0.624919772148	0.56424	T	0.439595	0.78482	T	-0.204021	0.20227	T	-0.530838	0.19204	T	0.97806042432785	0.72143	D	0.824218	0.48580	T	0.18725948	0.40172	0.1977485	0.43572	0.18725948	0.40172	0.1977485	0.43571	-7.805	0.59734	D	.	.	0.702	0.73029	P	.;.	.;.	2.039391	0.25922	16.94	0.99154176492749102	0.53903	0.59330	0.30885	D	AEFDGBI	0.254709	0.37397	N	-0.27254022256081	0.30213	1.682524	-0.289917366153927	0.28430	1.585113	0.997716112598469	0.35940	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	-0.942	0.09869	0.076000	0.14570	-0.234000	0.10651	-0.193000	0.09282	0.994000	0.38300	0.313000	0.24283	0.901000	0.43729	0.0:0.3147:0.0:0.6853	8.248	0.30860	138	0.94518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	952.33	35	chr22	41753964	.	C	G	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.229;DP=697;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.12;SOR=0.767	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1261	18	0	1	0
chr22	41813782	41813782	A	T	exonic	CCDC134	.	nonsynonymous SNV	CCDC134:NM_024821:exon6:c.A524T:p.D175V,CCDC134:NM_001382346:exon7:c.A524T:p.D175V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0206829485802	0.0003	0.000199681	0.0012	0	0.0003	0	0	0.0012	0.0011	0.0036	0.0010155	157	154602	rs151203017	0.0007	0.0007	0.0005	0.0009	0.0038	0.0006	0.0006	0.0035	0.0033	5.974e-05	0.0002	0.0143	0	0	0.0023	0.0001	0.0012	0.0038	0.0005	0.0005	0.0004	0.0006	0.0031	0.0004	0.0004	0.0019	0.0016	2.41e-05	0	6.546e-05	0.0121	0	0	0	0.0002	0.0005	0.0031	0.01	0.56456	D	0.052	0.47581	T	0.493	0.37004	P	0.107	0.31211	B	0.019745	0.27189	N	0.423208	0.999993	0.81001	D	1.7	0.43825	L	.	.	.	-4.61	0.79060	D	0.502	0.53445	-0.8214	0.53846	T	0.145	0.46914	T	9	0.006341845	0.00143	T	0.020683	0.43322	T	0.082	0.23913	.	.	0.487843537783	0.48417	0.5330830512084455	0.53233	0.289485884508	0.31360	0.287414848804	0.08547	T	0.295121	0.66779	T	-0.32735	0.06314	T	-0.243831	0.50424	T	0.0872409145090764	0.10887	T	0.909009	0.67793	D	0.29373586	0.52338	0.30163816	0.56196	0.29373586	0.52338	0.30163816	0.56195	-4.196	0.26694	T	0.4325797007769283	0.51946	0.183	0.39731	B	.	.	3.712519	0.53010	23.3	0.98842423156921733	0.47152	0.92217	0.55207	D	AEFDBI	0.335894	0.43419	N	0.205313860820261	0.51457	3.326705	0.322494788818716	0.56866	3.850502	0.999965218079951	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.79	4.73	0.59485	4.644000	0.61092	6.478000	0.55730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.6228:0.3772:0.0:0.0	10.777	0.45554	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2260.33	37	chr22	41813782	.	A	T	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=846;ExcessHet=0;FS=2.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.358;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1396	18	0	1	0
chr22	41877959	41877959	G	A	exonic	SREBF2	.	nonsynonymous SNV	SREBF2:NM_004599:exon9:c.G1597A:p.D533N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.013021043727	0.0003	0.000199681	0.0012	0	0.0003	0	0	0.0013	0.0011	0.0035	0.0010284	159	154602	rs200675940	0.0007	0.0007	0.0005	0.0009	0.0038	0.0007	0.0007	0.0034	0.0033	5.974e-05	0.0002	0.0143	2.519e-05	0	0.0023	0.0002	0.0013	0.0038	0.0005	0.0005	0.0005	0.0006	0.0031	0.0005	0.0004	0.0019	0.0016	4.814e-05	0	6.538e-05	0.0121	0	0	0.0034	0.0003	0.0005	0.0031	0.119	0.28026	T	0.371	0.17531	T	0.304	0.32663	B	0.05	0.25278	B	0.002044	0.37364	N	0.328449	0.946043	0.37512	D	1.525	0.38595	L	0.59	0.53943	T	-1.16	0.29727	N	0.235	0.26475	-0.9975	0.30618	T	0.108	0.39147	T	10	0.007961154	0.00181	T	0.013021	0.32090	T	0.038	0.09825	.	.	0.330131851566	0.32626	0.585276827951278	0.58457	0.2669790586	0.29234	0.367544054985	0.20479	T	0.019615	0.62447	T	-0.470228	0.00847	T	-0.449382	0.27766	T	0.0132245294351331	0.00235	T	0.827917	0.50550	T	0.072273575	0.16065	0.07840607	0.17557	0.072273575	0.16064	0.07840607	0.17556	-5.395	0.40871	T	.	.	0.123	0.25624	B	.;.	.;.	3.255703	0.44502	21.9	0.9961262075412689	0.74932	0.93841	0.59346	D	AEFDBCI	0.484979	0.52477	N	-0.141338504293217	0.35604	2.047	-0.00497575899463286	0.39489	2.34224	0.982959365155507	0.30481	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.96	3.95	0.44952	3.210000	0.50832	7.654000	0.63860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0768:0.0:0.9232:0.0	13.073	0.58484	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	1922.33	40	chr22	41877959	.	G	A	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.449;DP=779;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.485;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1320	18	0	1	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07895	3181.79	33	chr22	41909797	.	T	C	3181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.098;DP=802;ExcessHet=0.3672;FS=1.588;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.711;SOR=0.833	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1003,0,983	16	0	3	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07895	2758.79	33	chr22	42086248	.	G	A	2758.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.31;DP=838;ExcessHet=0.3672;FS=0.945;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.191;SOR=0.616	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1013,0,1114	16	0	3	0
chr22	42127565	42127565	T	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon6:c.A902C:p.H301P,CYP2D6:NM_000106:exon7:c.A1055C:p.H352P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.177647855851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.053e-06	2.726e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.524e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.46129	D	0.074	0.42976	T	.	.	.	.	.	.	0.484237	0.12130	N	0.762168	1	0.08975	N	1.81	0.47622	L	-1.24	0.78967	T	-3.09	0.63438	D	0.304	0.34336	-0.4166	0.71500	T	0.426	0.76976	T	10	0.40390635	0.55759	T	0.177648	0.85303	D	0.180	0.45073	0.542	0.65446	0.354610295913	0.35065	0.6545135130065906	0.65387	0.280182966025	0.30498	0.220706656575	0.01351	T	0.016433	0.29563	T	-0.0451463	0.45181	T	-0.302626	0.44447	T	0.635708093643188	0.37856	D	0.477152	0.14354	T	0.26139203	0.49198	0.18418321	0.41454	0.26139203	0.49198	0.18418321	0.41453	-10.676	0.79696	D	.	.	0.224	0.45569	B	.;.;.;.;.	.;.;.;.;.	0.471841	0.08413	5.170	0.75113315284161797	0.10950	0.08957	0.14806	N	AEFDGI	0.562926	0.57032	D	-1.32661850245086	0.03373	0.1505889	-1.49969779477421	0.02347	0.107814	0.0182648794206403	0.13039	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	4.93	-5.98	0.02034	-1.511000	0.02364	-11.497000	0.00600	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0989:0.2372:0.0:0.6639	9.752	0.39646	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	131.33	45	chr22	42127565	.	T	G	131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.526;DP=3238;ExcessHet=0;FS=1.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=-17.2;QD=0.4;ReadPosRankSum=2.12;SOR=0.793	GT:AD:DP:GQ:PL	0/0:172,0:172:99:0,120,1800	18	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	3393.89	35	chr22	42128812	.	A	G	3393.89	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.086;DP=2055;ExcessHet=2.1469;FS=9.869;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.167;MQ=52.6;MQRankSum=-7.41;QD=2.56;ReadPosRankSum=-3.691;SOR=2.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1330:.	12	0	6	1
chr22	42128849	42128849	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C448A:p.R150S,CYP2D6:NM_000106:exon4:c.C601A:p.R201S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0191161715555	.	.	0.0003	0.0002	0.0001	0	0	6.986e-05	0.0016	0.0016	.	.	.	rs774982812	6.738e-05	0.0001	2.051e-05	0.0001	0.0008	5.657e-05	5.198e-05	0.0006	0.0006	0.0001	0	0	0	0	0.0002	2.166e-05	6.661e-05	0.0008	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.249	0.17183	T	0.535	0.12107	T	.	.	.	.	.	.	0.643648	0.05882	N	1.221350	1	0.08975	N	1.89	0.50145	L	-0.29	0.67712	T	-1.43	0.35792	N	0.203	0.22486	-0.9473	0.41431	T	0.215	0.57626	T	10	0.06989348	0.10092	T	0.019116	0.41395	T	0.246	0.55340	.	.	0.324161360171	0.32030	0.5173619556389261	0.51659	0.135504829808	0.15275	0.215786740184	0.01081	T	0.004115	0.19053	T	-0.0845906	0.38967	T	-0.359285	0.38136	T	0.0521561838686466	0.05873	T	0.205379	0.18668	T	0.39107287	0.60108	0.121135496	0.29231	0.39107287	0.60109	0.121135496	0.29230	-7.294	0.58478	T	.	.	0.210	0.46619	B	.;.;.;.;.	.;.;.;.;.	0.412748	0.07838	4.531	0.72402539884290718	0.09961	0.02339	0.06686	N	AEFDBI	0.317622	0.42156	N	-1.25766900973309	0.04199	0.1890812	-1.4018528751687	0.03233	0.1504276	3.7690518559995E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	-3.18	0.04867	-1.946000	0.01626	-1.192000	0.06066	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3509:0.1555:0.2971:0.1966	0.475	0.00501	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	689.72	35	chr22	42128849	.	G	T	689.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.639;DP=2308;ExcessHet=0;FS=5.65;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=53.49;MQRankSum=-6.273;QD=2.74;ReadPosRankSum=-1.38;SOR=1.107	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1330	17	0	1	1
chr22	42141270	42141270	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	149	61	15	1	92	0.233933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.877e-06	2.739e-06	4.308e-06	1.441e-06	0.0004	6.7e-07	4.5e-07	6.554e-05	2.656e-05	0	0	3.938e-05	0	0	0.0004	9.474e-07	0	0	6.659e-06	6.575e-06	0	1.365e-05	2.479e-05	0	0	.	.	2.479e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.482810	0.12146	N	0.761563	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.281	0.31814	-0.8072	0.54718	T	0.260	0.63044	T	9	0.0841884	0.14083	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	.	.	.	.	.	.	.	0.06523	0.32635	T	-0.281797	0.10477	T	-0.642559	0.09483	T	0.365946382284164	0.27640	T	0.648035	0.31596	T	0.16711937	0.37089	0.20275088	0.44319	0.16711937	0.37089	0.20275088	0.44318	-10.966	0.79472	D	.	.	0.100	0.27493	B	.;.	.;.	-0.260994	0.02792	0.382	0.80656769355235858	0.13306	0.03799	0.09128	N	AEFDBI	0.011720	0.00110	N	-1.32833464630932	0.03355	0.1497206	-1.4077913331324	0.03174	0.1475081	0.936367067644768	0.27251	0.252514	0.04256	0	0.221468	0.04790	0	0.295636	0.05589	0	0.083433	0.02327	0	.	.	3.91	-7.54	0.01189	-1.538000	0.02308	-9.223000	0.00850	-1.128000	0.01461	0.000000	0.06391	0.000000	0.08366	0.382000	0.26379	0.1071:0.3833:0.0:0.5096	7.750	0.28058	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	20018.9	421	chr22	42141270	.	T	G	20018.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.254;DP=2761;ExcessHet=0.3441;FS=4.1;InbreedingCoeff=0.1244;MLEAC=1;MLEAF=0.026;MQ=52.88;MQRankSum=3.17;QD=13.78;ReadPosRankSum=0.7;SOR=0.48	GT:AD:DP:GQ:PL	0/0:64,0:188:99:3343,3535,6203	18	0	1	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07895	3241.79	39	chr22	42141910	.	T	G	3241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=1499;ExcessHet=0.3672;FS=1.756;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=54.01;MQRankSum=-4.337;QD=8.96;ReadPosRankSum=1.57;SOR=0.599	GT:AD:DP:GQ:PL	0/1:75,65:140:99:1466,0,1893	16	0	3	0
chr22	42142544	42142544	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	0.0011	0.0010	0.0014	0	0	0.0005	0.0076	0.0023	.	.	.	rs768412534	0.0001	0.0002	7.609e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0.0005	4.754e-05	0	0	0	0.0007	6.006e-05	0.0003	0.0011	0.0002	0.0002	5.141e-05	0.0003	0.0023	0.0001	9.238e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0.0034	5.882e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.631300	0.05814	N	1.231090	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.13198	-1.0162	0.24948	T	0.046	0.19680	T	8	0.014012307	0.00295	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.028276	0.20519	T	-0.746996	0.00019	T	-0.886317	0.00604	T	0.016337875276804	0.00403	T	0.380262	0.09172	T	0.10906365	0.25786	0.05225052	0.08571	0.10906365	0.25786	0.05225052	0.08571	-7.273	0.56003	T	.	.	0.194	0.43653	B	.;.	.;.	6.528878	0.95355	34	0.94920503821113722	0.25793	0.00919	0.03578	N	AEFDGBI	0.030867	0.03188	N	-0.787275739174706	0.13640	0.6734604	-0.988665404427139	0.10039	0.5031472	0.136244163243197	0.17187	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.82	-1.84	0.07387	-1.551000	0.02282	-6.398000	0.01409	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2584:0.1562:0.2803:0.3051	0.214	0.00149	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	645.33	35	chr22	42142544	.	G	T	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.75;DP=1812;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.68;MQRankSum=-7.667;QD=4.89;ReadPosRankSum=-0.599;SOR=0.979	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	18	0	1	0
chr22	42214566	42214566	-	AGG	exonic	TCF20	.	nonframeshift insertion	TCF20:NM_001378418:exon2:c.739_740insCCT:p.F247delinsSF,TCF20:NM_005650:exon2:c.739_740insCCT:p.T249_R1961delinsSTLPSSAAGYQLRVGQFGQHYQSSASSSSSSSFPSPQRFSQSGQSYDGSYNVNAGSQYEGHNVGSNAQAYGTQSNYSYQPQSMKNFEQAKIPQGTQQGQQQQQPQQQQHPSQHVMQYTNAATKLPLQSQVGQYNQPEVPVRSPMQFHQNFSPISNPSPAASVVQSPSCSSTPSPLMQTGENLQCGQGSVPMGSRNRILQLMPQLSPTPSMMPSPNSHAAGFKGFGLEGVPEKRLTDPGLSSLSALSTQVANLPNTVQHMLLSDALTPQKKTSKRPSSSKKADSCTNSEGSSQPEEQLKSPMAESLDGGCSSSSEDQGERVRQLSGQSTSSDTTYKGGASEKAGSSPAQGAQNEPPRLNASPAAREEATSPGAKDMPLSSDGNPKVNEKTVGVIVSREAMTGRVEKPGGQDKGSQEDDPAATQRPPSNGGAKETSHASLPQPEPPGGGGSKGNKNGDNNSNHNGEGNGQSGHSAAGPGFTSRTEPSKSPGSLRYSYKDSFGSAVPRNVSGFPQYPTGQEKGDFTGHGERKGRNEKFPSLLQEVLQGYHHHPDRRYSRSTQEHQGMAGSLEGTTRPNVLVSQTNELASRGLLNKSIGSLLENPHWGPWERKSSSTAPEMKQINLTDYPIPRKFEIEPQSSAHEPGGSLSERRSVICDISPLRQIVRDPGAHSLGHMSADTRIGRNDRLNPTLSQSVILPGGLVSMETKLKSQSGQIKEEDFEQSKSQASFNNKKSGDHCHPPSIKHESYRGNASPGAATHDSLSDYGPQDSRPTPMRRVPGRVGGREGMRGRSPSQYHDFAEKLKMSPGRSRGPGGDPHHMNPHMTFSERANRSSLHTPFSPNSETLASAYHANTRAHAYGDPNAGLNSQLHYKRQMYQQQPEEYKDWSSGSAQGVIAAAQHRQEGPRKSPRQQQFLDRVRSPLKNDKDGMMYGPPVGTYHDPSAQEAGRCLMSSDGLPNKGMELKHGSQKLQESCWDLSRQTSPAKSSGPPGMSSQKRYGPPHETDGHGLAEATQSSKPGSVMLRLPGQEDHSSQNPLIMRRRVRSFISPIPSKRQSQDVKNSSTEDKGRLLHSSKEGADKAFNSYAHLSHSQDIKSIPKRDSSKDLPSPDSRNCPAVTLTSPAKTKILPPRKGRGLKLEAIVQKITSPNIRRSASSNSAEAGGDTVTLDDILSLKSGPPEGGSVAVQDADIEKRKGEVASDLVSPANQELHVEKPLPRSSEEWRGSVDDKVKTETHAETVTAGKEPPGAMTSTTSQKPGSNQGRPDGSLGGTAPLIFPDSKNVPPVGILAPEANPKAEEKENDTVTISPKQEGFPPKGYFPSGKKKGRPIGSVNKQKKQQQPPPPPPQPPQIPEGSADGEPKPKKQRQRRERRKPGAQPRKRKTKQAVPIVEPQEPEIKLKYATQPLDKTDAKNKSFYPYIHVVNKCELGAVCTIINAEEEEQTKLVRGRKGQRSLTPPPSSTESKALPASSFMLQGPVVTESSVMGHLVCCLCGKWASYRNMGDLFGPFYPQDYAATLPKNPPPKRATEMQSKVKVRHKSASNGSKTDTEEEEEQQQQQKEQRSLAAHPRFKRRHRSEDCGGGPRSLSRGLPCKKAATEGSSEKTVLDSKPSVPTTSEGGPELELQIPELPLDSNEFWVHEGCILWANGIYLVCGRLYGLQEALEIAREMKCSHCQEAGATLGCYNKGCSFRYHYPCAIDADCLLHEENFSVRCPKHKPPLPCPLPPLQNKTAKGSLSTEQSERG*,TCF20:NM_181492:exon2:c.739_740insCCT:p.F247delinsSF	.	.	.	.	.	.	.	.	.	.	.	1667275	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0003	9.641e-05	8.661e-05	0.0008	0.0002	0.0002	0	0.0005	0.0002135	33	154602	rs761310557	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0.0001	0	0.0003	3.751e-05	0.0005	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0.0006	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2269.29	38	chr22	42214566	.	A	AAGG	2269.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.701;DP=872;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.609;SOR=0.841	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	18	0	1	0
chr22	42514716	42514716	G	A	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon5:c.C524T:p.T175M	.	421	1022	79	0	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0059	.	0.0104	0.0011	0.0031	0.0003	0.0032	0.0108	0.0188	0.0260	0.0004204	65	154602	rs141505384	0.0064	0.0072	0.0058	0.0071	0.0397	0.0063	0.0063	0.0355	0.0338	0.0014	0.0045	0.0219	0.0001	0.0027	0.0397	0.0053	0.0077	0.0209	0.0051	0.0054	0.0050	0.0051	0.0171	0.0048	0.0046	0.0141	0.0130	0.0011	0.0011	0.0061	0.0185	0	0.0019	0.0204	0.0065	0.0076	0.0171	0.032	0.44694	D	0.091	0.40110	T	0.999	0.77913	D	0.912	0.64797	D	0.681722	0.10252	N	0.859961	0.999988	0.18198	N	1.625	0.41611	L	1.84	0.24656	T	-2.21	0.49684	N	0.287	0.32481	-1.0487	0.14761	T	0.102	0.37743	T	10	0.010819316	0.00239	T	.	.	.	0.108	0.30607	.	.	0.483153943251	0.47947	0.24857725245994056	0.24771	2.62205694876	0.98273	0.403813183308	0.25599	T	0.136585	0.46904	T	-0.522364	0.00426	T	-0.507521	0.21570	T	0.0123048667362909	0.00199	T	0.834017	0.50309	T	0.089632064	0.20948	0.12695254	0.30567	0.089632064	0.20948	0.12695254	0.30567	-5.864	0.45127	T	.	.	0.090	0.12465	B	.	.	4.139315	0.62006	24.4	0.99785223286555202	0.87131	0.46820	0.27845	N	AEFDGBCI	0.164871	0.29130	N	0.275779643591207	0.54923	3.656973	0.135222655987922	0.46362	2.88357	0.192584466979158	0.18018	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.8	2.68	0.30839	3.366000	0.52068	4.582000	0.43923	0.479000	0.22080	0.920000	0.31959	0.979000	0.30280	0.250000	0.23263	0.0:0.0:0.6848:0.3152	11.166	0.47770	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027304	0.012500	0.027248	0.034483	0.000000	0.052632	0.031469	0.032787	0.07895	10652.8	34	chr22	42514716	.	G	A	10652.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.72;DP=2512;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=52.01;MQRankSum=-2.908;QD=9.12;ReadPosRankSum=0.635;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	16	0	3	0
chr22	42554982	42554982	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_014509:exon2:c.G67A:p.A23T	.	466	1052	4	0	0	4	0.00189753	.	.	.	3900367	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.01519208534	.	.	0.0001	0	0.0004	0	0.0005	6.038e-05	0	0.0004	3.84e-05	1	26028	rs760043089	7.309e-05	6.93e-05	5.885e-05	8.695e-05	0.0010	5.939e-05	5.463e-05	0.0003	0.0002	0	0.0004	0	0	0.0002	0.0010	3.099e-05	2.232e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.673e-05	0.0004	0.0003	2.637e-05	0	0.0008	0	0	0.0005	0.0071	1.509e-05	0.0005	0.0002	0.014	0.53172	D	0.018	0.59732	D	1.0	0.90584	D	0.964	0.71005	D	0.000424	0.44522	D	0.224693	0.999612	0.30443	N	.	.	.	3.69	0.16794	T	-3.26	0.65397	D	0.516	0.61172	-1.0580	0.12260	T	0.103	0.37969	T	10	0.21377498	0.37880	T	0.015192	0.35777	T	0.096	0.27654	.	.	0.0297737177859	0.01360	0.4579740390110822	0.45715	2.24570123189	0.96051	0.681156277657	0.64434	T	0.079642	0.36178	T	-0.404101	0.02176	T	-0.454076	0.27246	T	0.596310973167419	0.36254	D	0.815218	0.46991	T	0.12347749	0.28993	0.15410666	0.36183	0.12347749	0.28993	0.15410666	0.36182	-10.71	0.78044	D	.	.	0.184	0.47643	B	.;.	.;.	4.176458	0.62841	24.5	0.99823932149214412	0.90677	0.49260	0.28393	N	AEFDGBI	0.088255	0.17892	N	0.174427719980604	0.49974	3.192003	-0.0466058102315386	0.37637	2.20642	0.996548716841562	0.34819	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.67	0.348	0.15264	3.864000	0.55736	4.451000	0.43422	-0.108000	0.15293	0.998000	0.41325	1.000000	0.68203	0.821000	0.38685	0.0:0.1661:0.662:0.1718	8.695	0.33451	257	0.89904	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001899	0.000000	0.001377	0.004673	0.000000	0.009259	0.004132	0.000000	0.02632	215.38	10	chr22	42554982	.	G	A	215.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=283;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.026;MQ=27.61;MQRankSum=-0.778;QD=8.28;ReadPosRankSum=-0.571;SOR=0.34	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	18	0	1	0
chr22	42556563	42556563	C	T	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.C206T:p.T69M,SERHL2:NM_014509:exon6:c.C398T:p.T133M	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0009	.	0.0028	0.0002	0.0016	0.0002	0	0.0011	0.0022	0.0149	0.0022639	350	154602	rs138994162	0.0012	0.0015	0.0010	0.0014	0.0082	0.0012	0.0012	0.0077	0.0075	0.0003	0.0014	0.0033	0.0001	0	0.0016	0.0007	0.0017	0.0082	0.0008	0.0009	0.0006	0.0011	0.0091	0.0007	0.0007	0.0069	0.0061	7.258e-05	0	0.0006	0.0044	0	0	0	0.0008	0.0005	0.0091	0.048	0.42783	D	0.078	0.47828	T	0.191	0.29470	B	0.08	0.28873	B	0.286036	0.14856	N	0.674587	1	0.08975	N	.	.	.	-0.33	0.68329	T	-1.9	0.50012	N	0.169	0.21449	-0.9814	0.34678	T	0.159	0.49313	T	10	0.0051770806	0.00113	T	.	.	.	0.198	0.48105	.	.	0.411531665326	0.40769	0.6804990556788537	0.67988	1.16575227399	0.79615	0.281120538712	0.07648	T	0.013722	0.11817	T	-0.38328	0.02971	T	-0.31594	0.43019	T	0.00802689277242401	0.00095	T	0.822518	0.48813	T	0.020715497	0.00640	0.045029864	0.05968	0.020715497	0.00640	0.045029864	0.05967	-7.259	0.55903	T	.	.	0.152	0.34383	B	.;.;.;.	.;.;.;.	2.160353	0.27526	17.49	0.99585961244755994	0.73277	0.07144	0.13169	N	AEFGI	0.060756	0.11569	N	-0.883607810607181	0.11232	0.5409406	-0.970336476334684	0.10455	0.5266819	0.305673957486034	0.19235	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.1	2.08	0.26079	0.655000	0.24618	1.492000	0.26896	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.1656:0.5716:0.1618:0.101	3.632	0.07678	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012821	0.02632	1025.33	108	chr22	42556563	.	C	T	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=809;ExcessHet=0;FS=27.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.33;MQRankSum=-0.346;QD=9.49;ReadPosRankSum=2.68;SOR=0.958	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chr22	42566313	42566313	T	C	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon7:c.T431C:p.L144P,SERHL2:NM_014509:exon9:c.T623C:p.L208P	.	.	.	.	.	.	.	.	.	.	.	2677128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0223351708481	.	.	7.437e-05	0	0	0	0	7.519e-05	0	0.0002	6.47e-05	10	154602	rs758711341	1.781e-05	1.779e-05	1.636e-05	1.928e-05	0.0003	1.239e-05	1.053e-05	0.0001	8.647e-05	0	0	0	0	0	0.0003	8.099e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.009	0.79402	D	0.999	0.77913	D	0.914	0.68939	D	0.035608	0.24623	N	0.346259	0.999849	0.81001	D	2.85	0.82803	M	2.6	0.13204	T	-4.17	0.82141	D	0.85	0.87481	-1.1073	0.03312	T	0.076	0.30584	T	10	0.83325714	0.82485	D	0.022335	0.45218	T	0.268	0.58254	0.711	0.84691	0.165133752707	0.16062	0.8144742275503151	0.81403	0.00371297511254	0.00321	0.47880256176	0.35892	T	0.059366	0.31095	T	-0.193056	0.21810	T	-0.218896	0.52842	T	0.777889609336853	0.44919	D	0.770723	0.40088	T	0.8285498	0.85802	0.7162378	0.83251	0.8285498	0.85803	0.7162378	0.83252	-11.775	0.83737	D	.	.	0.306	0.65599	B	.;.;.	.;.;.	3.988162	0.58674	24.0	0.99821269065518459	0.90414	0.67787	0.33560	D	AEFGBHCI	0.282981	0.39619	N	0.37877585645775	0.60274	4.21452	0.268118729684408	0.53686	3.536437	0.048810016244583	0.14782	0.536635	0.22144	0	0.550933	0.16991	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	4.2	4.2	0.48814	2.290000	0.43193	1.683000	0.28024	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.498000	0.28972	0.2597:0.0:0.0:0.7403	7.049	0.24244	255	0.89985	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	35	chr22	42566313	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.372;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.06;SOR=0.78	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	18	0	1	0
chr22	42571202	42571205	AAGT	-	exonic	SERHL2	.	frameshift deletion	SERHL2:NM_001284334:exon8:c.538_539del:p.K180Sfs*7,SERHL2:NM_014509:exon10:c.730_731del:p.K244Sfs*7	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0027	0.0003	0.0007	0	0.0017	0.0039	0.0022	0.0024	0.000461	12	26028	rs566977033	0.0030	0.0030	0.0030	0.0031	0.0031	0.0030	0.0029	0.0030	0.0030	0.0004	0.0006	0.0132	0.0005	0.0016	0.0012	0.0031	0.0035	0.0027	0.0026	0.0026	0.0028	0.0023	0.0039	0.0023	0.0023	0.0035	0.0034	0.0004	0	0.0003	0.0190	0	0.0010	0.0068	0.0039	0.0028	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2061.29	33	chr22	42571201	.	CAAGT	C	2061.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.359;DP=761;ExcessHet=0;FS=2.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=-5.181;QD=15.74;ReadPosRankSum=-1.521;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R,SERHL2:NM_014509:exon12:c.A827G:p.Q276R	.	428	1066	25	2	1	30	0.0134197	.	.	.	3886735	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001586	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.000000	0.02632	63.33	105	chr22	42573937	.	A	G	63.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.468;DP=1345;ExcessHet=0;FS=3.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.51;MQRankSum=-6.851;QD=1.01;ReadPosRankSum=-3.325;SOR=1.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1392:.	18	0	1	0
chr22	42628212	42628212	G	C	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon5:c.C403G:p.Q135E,CYB5R3:NM_001129819:exon5:c.C334G:p.Q112E,CYB5R3:NM_001171660:exon5:c.C502G:p.Q168E,CYB5R3:NM_007326:exon5:c.C334G:p.Q112E,CYB5R3:NM_001171661:exon6:c.C334G:p.Q112E	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3529139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.02278608635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.163e-05	1.163e-05	1.906e-05	4.125e-06	0.0004	7.08e-06	5.79e-06	0.0003	0.0002	0	0	0	0.0004	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.158	0.31629	T	0.0	0.02946	B	0.001	0.04355	B	0.122656	0.18947	N	0.560821	0.910659	0.27513	N	0.31	0.10265	N	-1.88	0.84487	D	-0.67	0.19297	N	0.156	0.19861	-0.7660	0.57077	T	0.378	0.73535	T	10	0.17329568	0.32148	T	0.022786	0.45709	T	0.135	0.36572	0.347	0.34274	0.84911352479	0.84766	0.45253909369462064	0.45171	0.0421983210301	0.04548	0.341808229685	0.16709	T	0.120949	0.44355	T	-0.0186466	0.49046	T	-0.264561	0.48367	T	0.0894569021099759	0.11152	T	0.926807	0.73422	D	0.39689773	0.60517	0.16313446	0.37859	0.39689773	0.60517	0.16313446	0.37859	-4.836	0.35008	T	0.10829718905198908	0.08913	0.081	0.11366	B	.;.;.;.;.;.	.;.;.;.;.;.	1.893244	0.24047	16.25	0.93182061926077575	0.22844	0.81044	0.40533	D	AEFDBI	0.360398	0.45038	N	-0.462268667999279	0.23325	1.251817	-0.3628814882154	0.26114	1.440323	0.998329225089256	0.36758	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.92	0.162	0.14269	2.114000	0.41535	1.324000	0.25623	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.3356:0.6644	12.172	0.53471	264	0.89640	.;Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type;.;.;.;Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1028.33	33	chr22	42628212	.	G	C	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.571;DP=718;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.14;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr22	42808780	42808780	T	C	exonic	ARFGAP3	.	nonsynonymous SNV	ARFGAP3:NM_001142293:exon12:c.A1175G:p.Q392R,ARFGAP3:NM_014570:exon13:c.A1307G:p.Q436R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0230439425846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.111	0.37173	T	0.917	0.50750	P	0.424	0.45210	B	0.000064	0.52346	D	0.128721	0.999995	0.58761	D	2.66	0.77858	M	3.46	0.05507	T	-2.75	0.58407	D	0.637	0.64989	-1.1037	0.03672	T	0.037	0.15986	T	10	0.5012514	0.61561	D	0.023044	0.45988	T	0.263	0.57612	0.247	0.18293	0.39843156188	0.39459	0.3578040163111844	0.35694	0.305991248268	0.32896	0.558672904968	0.47080	T	0.079186	0.36069	T	-0.00437859	0.51050	T	-0.244066	0.50400	T	0.964187204837799	0.66881	D	0.866813	0.70605	D	0.49214524	0.66630	0.51489633	0.71970	0.49214524	0.66631	0.51489633	0.71971	-11.586	0.82972	D	.	.	0.108	0.27762	B	.;.	.;.	4.198050	0.63329	24.6	0.99833671031109561	0.91542	0.99534	0.97166	D	AEFDBI	0.876994	0.80134	D	0.416082353979794	0.62306	4.444377	0.460667606260105	0.65404	4.820	0.999999995315203	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.95	4.95	0.64894	7.014000	0.76124	7.708000	0.66649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.573	0.61320	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	35	chr22	42808780	.	T	C	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.876;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.669;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	18	0	1	0
chr22	42884389	42884389	G	A	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001349974:exon5:c.C659T:p.A220V,PACSIN2:NM_001184970:exon6:c.C782T:p.A261V,PACSIN2:NM_001184971:exon6:c.C782T:p.A261V,PACSIN2:NM_001349968:exon6:c.C782T:p.A261V,PACSIN2:NM_001349969:exon6:c.C782T:p.A261V,PACSIN2:NM_001349970:exon6:c.C782T:p.A261V,PACSIN2:NM_001349971:exon6:c.C782T:p.A261V,PACSIN2:NM_001349972:exon6:c.C782T:p.A261V,PACSIN2:NM_001349973:exon6:c.C782T:p.A261V,PACSIN2:NM_007229:exon6:c.C782T:p.A261V	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00758786	0.0054	0.0001	8.642e-05	0	0	0	0.0033	0.0407	0.0046312	716	154602	rs371512988	0.0025	0.0025	0.0014	0.0036	0.0402	0.0024	0.0024	0.0391	0.0387	0.0002	2.318e-05	0	0	0	0.0028	1.621e-05	0.0026	0.0402	0.0011	0.0011	0.0006	0.0017	0.0340	0.0010	0.0009	0.0297	0.0281	4.809e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0340	0.251	0.32296	T	0.257	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.196547	0.16709	N	0.638482	0.902093	0.27680	N	0.55	0.14455	N	0.86	0.46777	T	-1.14	0.29323	N	0.187	0.20660	-1.0853	0.06353	T	0.058	0.24279	T	10	0.0025706291	0.00039	T	.	.	.	0.042	0.11227	0.387	0.40788	0.374076547971	0.37021	0.12102410611320182	0.12029	0.333995253611	0.35422	0.287578165531	0.08570	T	0.07842	0.35886	T	-0.593285	0.00160	T	-0.595003	0.13235	T	0.00964490841835265	0.00125	T	0.763624	0.39028	T	0.14006141	0.32329	0.08328184	0.19073	0.14006141	0.32329	0.08328184	0.19073	-5.886	0.45316	T	.	.	0.094	0.14523	B	.;.;.;.;.;.	.;.;.;.;.;.	2.939118	0.39075	20.9	0.98513177286905773	0.42374	0.90827	0.52335	D	AEFDGBI	0.190811	0.31803	N	-0.494908104709387	0.22246	1.186552	-0.335785898918827	0.26953	1.492256	0.999933178920085	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	4.61	0.56724	1.233000	0.32250	8.482000	0.77302	0.672000	0.70159	0.251000	0.24859	1.000000	0.68203	0.743000	0.35541	0.0727:0.0:0.7819:0.1454	9.284	0.36905	745	0.52414	F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain;F-BAR domain|PACSIN2, F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.05263	3722.81	34	chr22	42884389	.	G	A	3722.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.24;SOR=1.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	18	1	0	0
chr22	43124077	43124077	G	A	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.G55A:p.E19K	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00339457	0.0019	9.61e-05	8.637e-05	0.0001	0	2.997e-05	0.0022	0.0134	0.0016559	256	154602	rs4988415	0.0008	0.0008	0.0004	0.0011	0.0123	0.0007	0.0007	0.0117	0.0114	2.987e-05	0	0.0003	2.519e-05	0	0.0002	8.093e-06	0.0010	0.0123	0.0005	0.0005	0.0002	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.406e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0145	0.048	0.40068	D	0.195	0.28032	T	0.901	0.49677	P	0.549	0.49194	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.74	0.26301	T	-2.68	0.57275	D	0.184	0.19995	-1.0709	0.09216	T	0.050	0.21104	T	9	0.0045650303	0.00095	T	.	.	.	0.050	0.13987	.	.	0.39162414616	0.38777	0.19947998921342414	0.19864	0.0870314921801	0.09816	0.295571267605	0.09743	T	0.213235	0.57450	T	-0.553807	0.00277	T	-0.556606	0.16698	T	0.0912026335807295	0.11360	T	0.60194	0.22516	T	0.17415453	0.38203	0.1357998	0.32505	0.17415453	0.38203	0.1357998	0.32504	-4.878	0.35487	T	.	.	0.236	0.46949	B	.	.	2.232654	0.28505	17.82	0.9966511812972626	0.78202	0.03626	0.08868	N	AEFBI	0.027513	0.02260	N	-0.45505407102697	0.23569	1.266602	-0.61187862631814	0.19188	1.028375	0.993987325381834	0.33438	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.18	1.97	0.25278	0.549000	0.23037	2.388000	0.32524	0.676000	0.76740	0.022000	0.19841	0.986000	0.30841	0.023000	0.12082	0.1213:0.21:0.6687:0.0	5.165	0.14410	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1522.33	33	chr22	43124077	.	G	A	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.257;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	18	0	1	0
chr22	43133152	43133152	C	T	exonic	MCAT	.	nonsynonymous SNV	MCAT:NM_173467:exon4:c.G1064A:p.G355E	.	.	.	.	.	.	.	.	.	.	.	3278304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.0676140668138	7.7e-05	0.000199681	0.0003	0	0.0002	0	0	0.0004	0.0011	0.0003	0.0002652	41	154602	rs142380867	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	2.987e-05	0.0002	0.0034	0	0	0.0019	5.665e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	8.284e-05	2.405e-05	0	0.0003	0.0052	0	0	0.0034	1.47e-05	0.0014	0.0004	0.131	0.26629	T	0.363	0.16815	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	0.98	0.42122	T	-4.19	0.75615	D	0.881	0.87917	-0.6691	0.61869	T	0.275	0.64660	T	10	0.21971494	0.38648	T	0.067614	0.70216	D	0.502	0.78475	.	.	0.741748209757	0.73943	0.8005467128224002	0.80008	1.15784750096	0.79393	0.545394718647	0.45207	T	0.63743	0.88839	D	0.0419343	0.57299	T	0.114608	0.77878	D	0.333497405052185	0.26365	T	0.935206	0.75689	D	0.865103	0.88478	0.6346571	0.78674	0.865103	0.88479	0.6346571	0.78675	-9.346	0.69896	D	.	.	0.710	0.73363	P	.	.	4.937143	0.81443	27.6	0.9968722761601817	0.79708	0.95711	0.65830	D	AEFDBCI	0.913418	0.87537	D	0.664567104659805	0.77314	6.651108	0.625606118346219	0.76804	6.559166	0.999999999999905	0.74766	0.743674	0.98306	0	0.702456	0.74545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.514000	0.80644	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:1.0:0.0:0.0	19.317	0.94209	809	0.43032	Polyketide synthase, acyl transferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1704.33	46	chr22	43133152	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.261;DP=987;ExcessHet=0;FS=2.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.79;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1280	18	0	1	0
chr22	43161186	43161186	G	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon3:c.G317T:p.G106V,TSPO:NM_001256530:exon3:c.G317T:p.G106V,TSPO:NM_001256531:exon3:c.G317T:p.G106V	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0239518547675	0.0002	.	5.853e-05	0.0005	0	0	0	1.513e-05	0	6.482e-05	4.53e-05	7	154602	rs143915407	3.493e-05	3.489e-05	3.951e-05	3.03e-05	0.0013	2.7e-05	2.441e-05	0.0010	0.0009	0.0013	2.246e-05	0	0	0	0	2.7e-06	4.977e-05	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0.0014	0	0.052	0.61437	T	0.02	0.92824	D	0.988	0.62325	D	0.885	0.62825	P	0.000113	0.50451	D	0.211384	1	0.81001	D	.	.	.	0.96	0.42888	T	-2.82	0.59545	D	0.793	0.78927	-0.6251	0.63777	T	0.251	0.62050	T	10	0.28507313	0.46089	T	0.023952	0.46930	T	0.142	0.37995	.	.	0.713342169113	0.71083	0.6402821541742774	0.63963	0.769811145907	0.64707	0.556881010532	0.46827	T	0.051075	0.28777	T	-0.29134	0.09503	T	-0.226644	0.52096	T	0.498095035552979	0.32560	T	0.750625	0.66542	T	0.553942	0.70175	0.51947045	0.72236	0.553942	0.70176	0.51947045	0.72237	-10.173	0.74941	D	.	.	0.256	0.52801	B	.;.;.;.;.	.;.;.;.;.	4.520207	0.70871	25.6	0.99788992379600305	0.87484	0.93645	0.58787	D	AEFBCI	0.900986	0.84716	D	0.75958520103579	0.83528	8.040964	0.738828796215673	0.85318	8.545439	0.999998460292732	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	7.367000	0.78814	11.624000	0.93645	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	18.739	0.91732	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr22	43161186	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.417;DP=660;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=1.66;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	18	0	1	0
chr22	43212440	43212440	C	T	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon17:c.G2206A:p.D736N	.	433	1087	2	0	0	2	0.000919118	.	.	.	3314124	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0172014454411	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs570778063	2.072e-05	2.257e-05	2.398e-05	1.738e-05	0.0002	1.454e-05	1.257e-05	2.443e-05	1.538e-05	0	0	0	0	0	0.0002	1.853e-05	5.176e-05	6.31e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0001	5.24e-06	2.45e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.039	0.42487	D	0.021	0.58089	D	0.06	0.23119	B	0.163	0.34892	B	0.000000	0.84330	D	0.044701	1	0.81001	D	1.85	0.49092	L	2.28	0.17271	T	-3.32	0.66085	D	0.759	0.75742	-1.0767	0.08003	T	0.056	0.23639	T	10	0.5777143	0.65674	D	0.017201	0.38801	T	0.163	0.42028	0.623	0.75803	0.648919026165	0.64600	0.47800619823244367	0.47720	1.44904736646	0.86117	0.650685966015	0.60082	T	0.282957	0.65571	T	-0.359596	0.04153	T	-0.558676	0.16501	T	0.412626326084137	0.29416	T	0.965303	0.87188	D	0.4270698	0.62560	0.37598866	0.62731	0.4270698	0.62560	0.37598866	0.62730	-6.528	0.50502	T	.	.	0.117	0.23570	B	.	.	4.286226	0.65326	24.8	0.99891228652732589	0.96513	0.97571	0.75624	D	AEFBI	0.884437	0.81412	D	0.0364286456821212	0.43519	2.643245	0.116253219162571	0.45380	2.802159	0.999999861084352	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.12	4.12	0.47504	7.494000	0.80344	7.553000	0.60314	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	16.93	0.86058	686	0.59327	Tyrosine-protein kinase ephrin type A/B receptor-like|EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	733.33	44	chr22	43212440	.	C	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=719;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.774;SOR=0.84	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	18	0	1	0
chr22	43530868	43530868	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon29:c.A3874G:p.K1292E,EFCAB6:NM_022785:exon31:c.A4330G:p.K1444E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0352526808773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.017	0.51853	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.003684	0.34611	N	0.190179	0.677254	0.34754	D	1.91	0.51138	L	-0.61	0.71779	T	-2.76	0.59545	D	0.685	0.78356	-0.3590	0.73293	T	0.410	0.75852	T	10	0.7961842	0.79091	D	0.035253	0.56225	D	0.420	0.72930	0.47	0.54376	0.83388813364	0.83230	0.3985054516633523	0.39765	0.405051829818	0.41395	0.664059758186	0.61989	T	0.010422	0.09410	T	0.0486988	0.58175	T	-0.167824	0.57642	T	0.959803223609924	0.65632	D	0.743426	0.36288	T	0.2856542	0.51585	0.320718	0.58025	0.2856542	0.51585	0.320718	0.58024	-9.033	0.67910	D	.	.	0.906	0.87462	P	.;.	.;.	3.780754	0.54354	23.5	0.99862963921158521	0.94093	0.88713	0.48773	D	AEFBI	0.623673	0.60753	D	0.41160925911618	0.62058	4.415872	0.362965235451947	0.59294	4.105826	0.999998274457692	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	4.312000	0.58946	7.560000	0.60459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.0:1.0	12.294	0.54153	846	0.36215	.;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	946.33	33	chr22	43530868	.	T	C	946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.838;DP=720;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.97;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	18	0	1	0
chr22	43555069	43555069	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon25:c.C2992T:p.P998S,EFCAB6:NM_022785:exon27:c.C3448T:p.P1150S	.	429	1044	45	4	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00339457	0.0063	0.0012	0.0046	0.0001	0.0002	0.0070	0.0088	0.0134	0.0063065	975	154602	rs34344550	0.0064	0.0064	0.0060	0.0068	0.0385	0.0063	0.0062	0.0343	0.0327	0.0017	0.0056	0.0239	2.519e-05	0.0004	0.0385	0.0058	0.0085	0.0142	0.0052	0.0052	0.0051	0.0052	0.0116	0.0049	0.0048	0.0092	0.0083	0.0012	0.0121	0.0074	0.0262	0.0002	0.0008	0.0408	0.0062	0.0114	0.0116	0.019	0.50132	D	0.044	0.50514	D	0.782	0.44333	P	0.327	0.41976	B	0.017104	0.27806	N	0.331763	0.988932	0.40856	D	2.135	0.59519	M	2.53	0.14038	T	-2.12	0.48184	N	0.359	0.40063	-1.0884	0.05804	T	0.026	0.11176	T	10	0.005732	0.00128	T	.	.	.	0.053	0.14996	.	.	0.460438652622	0.45667	0.17847128462516607	0.17766	0.289139264481	0.31319	0.345039188862	0.17189	T	0.005845	0.05287	T	-0.524154	0.00416	T	-0.514657	0.20838	T	0.0161385539555044	0.00390	T	0.679032	0.28770	T	0.08406054	0.19440	0.12487603	0.30094	0.08406054	0.19439	0.12487603	0.30093	-3.395	0.14990	T	.	.	0.376	0.58167	A	.;.	.;.	3.640759	0.51624	23.1	0.99251523262501273	0.56891	0.89131	0.49414	D	AEFDBI	0.519927	0.54500	D	0.0774063705510916	0.45409	2.798018	0.167255593261242	0.48063	3.02744	0.719762785863193	0.22917	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	3.159000	0.50430	9.379000	0.80502	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	14.877	0.70142	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032729	0.040404	0.028533	0.052632	0.000000	0.068966	0.033537	0.022727	0.07895	6636.79	36	chr22	43555069	.	G	A	6636.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.821;DP=1128;ExcessHet=0.3672;FS=0.527;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.389;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	16	0	3	0
chr22	43669029	43669029	G	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.C1201G:p.Q401E,EFCAB6:NM_022785:exon16:c.C1657G:p.Q553E	.	435	1064	21	2	0	25	0.0116117	.	.	.	3547055	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00600643665542	0.0015	0.00119808	0.0021	0.0006	0.0011	0	0	0.0019	0.0044	0.0068	0.0019599	303	154602	rs142603983	0.0017	0.0017	0.0014	0.0019	0.0096	0.0016	0.0016	0.0075	0.0068	0.0003	0.0011	0.0040	5.073e-05	1.877e-05	0.0096	0.0013	0.0019	0.0075	0.0013	0.0013	0.0013	0.0012	0.0060	0.0011	0.0011	0.0043	0.0037	0.0004	0	0.0007	0.0035	0.0002	0	0.0034	0.0018	0.0009	0.0060	0.43	0.09543	T	0.022	0.57587	D	0.102	0.25827	B	0.03	0.21741	B	0.359028	0.13698	N	0.695852	0.987798	0.24480	N	2.455	0.71248	M	1.04	0.40218	T	-0.84	0.22944	N	0.259	0.36884	-1.0483	0.14875	T	0.108	0.39221	T	10	0.0059239566	0.00133	T	0.006006	0.15668	T	0.088	0.25558	.	.	0.588714669503	0.58547	0.22755316562618697	0.22670	0.117441942622	0.13232	0.344939410686	0.17173	T	0.003435	0.02839	T	-0.558226	0.00260	T	-0.570764	0.15379	T	0.013569507946063	0.00250	T	0.679332	0.28809	T	0.096601725	0.22757	0.089775704	0.21013	0.096601725	0.22756	0.089775704	0.21012	-5.902	0.45453	T	.	.	0.085	0.10111	B	.;.	.;.	2.170900	0.27664	17.54	0.81263561073229329	0.13599	0.82853	0.42026	D	AEFI	0.171727	0.29872	N	-0.29548272239765	0.29323	1.625038	-0.235397199423039	0.30278	1.703392	3.41392403691261E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	3.94	0.44807	1.815000	0.38620	4.647000	0.44180	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.763000	0.36255	0.0:0.0:0.8073:0.1927	10.540	0.44215	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.015152	0.002717	0.000000	0.000000	0.017241	0.009146	0.018939	0.02632	566.33	33	chr22	43669029	.	G	C	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=658;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=0.308;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	18	0	1	0
chr22	43765381	43765381	T	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon5:c.A364T:p.T122S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00139776	0.0070	0.0010	0.0049	0	0.0057	0.0111	0.0045	0.0002	0.0068757	1063	154602	rs34459061	0.0090	0.0090	0.0094	0.0085	0.0104	0.0088	0.0088	0.0102	0.0102	0.0015	0.0060	0.0172	2.525e-05	0.0058	0.0007	0.0104	0.0074	0.0003	0.0070	0.0071	0.0073	0.0068	0.0099	0.0067	0.0066	0.0093	0.0091	0.0017	0.0526	0.0087	0.0193	0	0.0049	0	0.0099	0.0114	0	0.848	0.02753	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.424463	0.12828	N	0.708126	1	0.81001	D	-2.19	0.00126	N	1.82	0.25018	T	0.52	0.02853	N	0.086	0.07949	-0.9785	0.35345	T	0.008	0.02926	T	10	0.0036314428	0.00066	T	.	.	.	0.030	0.07022	0.335	0.32329	0.167679373172	0.16340	0.11220863348565291	0.11149	0.050289316464	0.05517	0.278401970863	0.07271	T	9.35E-4	0.00486	T	-0.667604	0.00057	T	-0.721356	0.04730	T	0.00442526136119251	0.00047	T	0.317668	0.06361	T	0.01921504	0.00448	0.026221674	0.00700	0.01921504	0.00448	0.026221674	0.00700	-2.416	0.05232	T	.	.	0.075	0.08272	B	.;.	.;.	-0.239309	0.02897	0.416	0.2138202325986811	0.00812	0.48125	0.28137	N	AEFDI	0.140390	0.26228	N	-1.3891362336203	0.02739	0.1213854	-1.1870789575731	0.06125	0.2938617	1.2972034052915E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.34	0.998	0.18975	0.033000	0.13642	0.002000	0.13306	-0.770000	0.03453	0.977000	0.34929	0.847000	0.27355	0.071000	0.16709	0.178:0.1013:0.1852:0.5355	1.362	0.02061	917	0.20147	DJBP, EF-hand domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	38	chr22	43765381	.	T	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.09;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.737;SOR=0.64	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	18	0	1	0
chr22	43773055	43773055	A	G	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon4:c.T188C:p.I63T	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0048	0.00319489	0.0056	0.0007	0.0023	0.0001	0.0003	0.0065	0.0055	0.0124	0.0057373	887	154602	rs146421624	0.0065	0.0065	0.0061	0.0068	0.0300	0.0064	0.0063	0.0263	0.0249	0.0011	0.0028	0.0119	5.038e-05	0.0008	0.0300	0.0064	0.0074	0.0135	0.0042	0.0042	0.0045	0.0039	0.0104	0.0039	0.0038	0.0081	0.0073	0.0010	0.0110	0.0036	0.0092	0.0002	0.0009	0.0272	0.0062	0.0061	0.0104	0.079	0.33753	T	0.005	0.72224	D	0.981	0.59675	D	0.617	0.51308	P	0.003033	0.35542	N	0.173599	0.601787	0.81001	D	2.32	0.66415	M	2.04	0.20808	T	-2.32	0.51478	N	0.628	0.64223	-1.1185	0.02428	T	0.062	0.25672	T	10	0.008963555	0.00203	T	.	.	.	0.182	0.45420	.	.	0.493021045079	0.48934	0.5101307854422429	0.50935	0.357239125746	0.37449	0.620053529739	0.55737	T	0.020141	0.15912	T	-0.354042	0.04478	T	-0.270302	0.47788	T	0.0448903567107127	0.04583	T	0.678032	0.28700	T	0.120966405	0.28454	0.11955649	0.28857	0.120966405	0.28454	0.11955649	0.28856	-5.444	0.41340	T	.	.	0.616	0.69555	P	.	.	4.178121	0.62878	24.5	0.99826203494951415	0.90852	0.91616	0.53901	D	AEDGI	0.651482	0.62522	D	0.488562649464887	0.66418	4.947908	0.493774951963598	0.67576	5.102637	0.99999733931667	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.92	4.92	0.64147	4.774000	0.62033	10.789000	0.83761	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.111	0.47456	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020645	0.005051	0.014946	0.038012	0.000000	0.051724	0.030488	0.018939	0.05263	2923.83	37	chr22	43773055	.	A	G	2923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=835;ExcessHet=0.119;FS=1.054;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.649;SOR=0.6	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	17	0	2	0
chr22	43782248	43782248	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon3:c.G71A:p.R24K	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00658588574056	0.0002	0.000998403	0.0003	0	0.0003	0	0	0.0001	0	0.0018	0.0003105	48	154602	rs147913121	0.0001	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	0	0.0002	0	0	0	0.0014	3.058e-05	0.0002	0.0018	0.0002	0.0002	0.0002	9.402e-05	0.0023	0.0001	9.235e-05	0.0013	0.0010	0	0	6.533e-05	0	0	0	0	0.0002	0.0005	0.0023	0.0	0.91255	D	0.156	0.31833	T	0.999	0.77913	D	0.987	0.77487	D	0.000908	0.41128	D	0.000000	1	0.81001	D	2.505	0.72935	M	1.96	0.22270	T	-1.08	0.28084	N	0.38	0.42149	-1.0739	0.08577	T	0.111	0.39959	T	10	0.01578343	0.00331	T	0.006586	0.17358	T	0.137	0.36984	.	.	0.525817377317	0.52229	0.60197316063942	0.60128	0.352897923945	0.37108	0.330085426569	0.14947	T	0.008887	0.08127	T	-0.407848	0.02054	T	-0.365886	0.37369	T	0.0761887535065553	0.09493	T	0.521048	0.16963	T	0.35144922	0.57180	0.34374264	0.60081	0.35144922	0.57180	0.34374264	0.60081	-4.092	0.25172	T	.	.	0.235	0.46813	B	.	.	3.682844	0.52433	23.2	0.99554653389989267	0.71397	0.45288	0.27505	N	AEFBI	0.100376	0.20184	N	0.32454447733443	0.57411	3.908305	0.227103911491752	0.51356	3.318896	0.0716630719760237	0.15575	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	1.891000	0.39372	4.322000	0.43001	0.599000	0.40250	0.885000	0.31090	0.998000	0.33993	0.802000	0.37819	0.0:1.0:0.0:0.0	12.841	0.57185	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1397.33	42	chr22	43782248	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=794;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.549;SOR=0.826	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chr22	43884270	43884270	G	A	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C683T:p.T228M,PNPLA5:NM_001371410:exon7:c.C605T:p.T202M,PNPLA5:NM_138814:exon7:c.C1025T:p.T342M	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0154404495991	0.0003	0.000199681	0.0010	9.662e-05	0.0041	0	0.0003	0.0008	0.0056	0.0003	0.0008473	131	154602	rs181818400	0.0005	0.0005	0.0005	0.0005	0.0065	0.0004	0.0004	0.0048	0.0043	0.0009	0.0026	0.0024	0.0002	7.524e-05	0.0065	0.0003	0.0015	0.0003	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0005	0	0.0012	0.0032	0.0002	9.414e-05	0.0306	0.0004	0.0014	0.0004	0.045	0.78490	D	0.025	0.76473	D	1.0	0.90584	D	0.926	0.75477	D	0.061347	0.22178	N	0.286793	1	0.08975	N	2.395	0.69210	M	1.24	0.50976	T	-3.65	0.69950	D	0.337	0.48963	-0.9246	0.44915	T	0.199	0.55400	T	10	0.012504518	0.00268	T	0.01544	0.36172	T	0.111	0.31313	.	.	0.482792760554	0.47910	0.4760699081606957	0.47526	0.53814913595	0.51084	0.521456360817	0.41832	T	0.064491	0.32447	T	-0.388814	0.02738	T	-0.336519	0.40739	T	0.050207135631826	0.05536	T	0.814619	0.46840	T	0.055182192	0.10690	0.08356641	0.19160	0.055182192	0.10690	0.08356641	0.19160	-7.503	0.57631	D	.	.	0.124	0.30686	B	.;.;.;.;.	.;.;.;.;.	2.916333	0.38697	20.8	0.99422712835649218	0.63838	0.08577	0.14487	N	AEFDBCI	0.056450	0.10437	N	-0.201482110444897	0.33073	1.872307	-0.451132740740565	0.23516	1.282862	0.722477744473555	0.22949	0.695654	0.57023	0	0.491513	0.07743	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.11	0.586	0.16618	2.429000	0.44415	0.766000	0.21355	0.618000	0.50648	0.395000	0.26129	0.000000	0.08366	0.112000	0.18829	0.1079:0.1763:0.5101:0.2058	2.501	0.04350	886	0.28090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.020202	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	985.33	34	chr22	43884270	.	G	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=695;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.515;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	18	0	1	0
chr22	43884304	43884304	G	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001177675:exon5:c.C649G:p.R217G,PNPLA5:NM_001371410:exon7:c.C571G:p.R191G,PNPLA5:NM_138814:exon7:c.C991G:p.R331G	.	429	1079	1	0	13	14	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0105007851262	0.0015	0.00179712	0.0014	0.0034	0.0012	0	0	0.0015	0.0023	0.0011	0.0012484	193	154602	rs148896213	0.0011	0.0011	0.0010	0.0011	0.0305	0.0010	0.0010	0.0268	0.0253	0.0039	0.0014	0.0002	0	0.0004	0.0305	0.0009	0.0023	0.0010	0.0018	0.0018	0.0018	0.0018	0.0034	0.0016	0.0015	0.0029	0.0027	0.0034	0	0.0012	0.0003	0	0.0005	0.0340	0.0012	0.0033	0.0008	0.405	0.46910	T	0.196	0.58089	T	0.249	0.41275	B	0.081	0.40506	B	0.743806	0.06444	N	1.192680	1	0.08975	N	1.855	0.49169	L	1.41	0.44461	T	-3.6	0.69950	D	0.338	0.37923	-1.0486	0.14790	T	0.061	0.25419	T	10	0.004383564	0.00089	T	0.010501	0.27109	T	0.076	0.22200	.	.	0.341460817117	0.33762	0.28422708678200204	0.28335	0.219144547618	0.24453	0.274892568588	0.06791	T	0.043256	0.26443	T	-0.462846	0.00943	T	-0.439096	0.28910	T	0.0368602888373502	0.03132	T	0.545645	0.18668	T	0.09420593	0.22145	0.12430613	0.29963	0.09420593	0.22144	0.12430613	0.29962	-4.071	0.24861	T	.	.	0.077	0.16010	B	.;.;.;.;.	.;.;.;.;.	1.209471	0.16023	12.27	0.87138616959113779	0.17015	0.10227	0.15792	N	AEFDBCI	0.059976	0.11365	N	-0.715946997227853	0.15574	0.7860263	-0.827677575654239	0.13825	0.719296	0.825105346048427	0.24593	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.01	1.83	0.24279	0.865000	0.27595	0.154000	0.15327	-0.161000	0.11593	0.003000	0.16062	0.000000	0.08366	0.089000	0.17737	0.2506:0.0:0.7494:0.0	6.151	0.19529	886	0.28090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.020202	0.023098	0.032164	0.000000	0.034483	0.012195	0.007576	0.02632	458.33	34	chr22	43884304	.	G	C	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.242;DP=694;ExcessHet=0;FS=1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.831;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	18	0	1	0
chr22	44193820	44193820	C	T	exonic	PARVG	.	nonsynonymous SNV	PARVG:NM_001137605:exon9:c.C580T:p.P194S,PARVG:NM_022141:exon9:c.C580T:p.P194S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0104041343024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.64	0.06970	T	0.001	0.07471	B	0.001	0.04355	B	0.578524	0.05522	N	1.305430	1	0.08975	N	-0.51	0.02586	N	-0.97	0.75670	T	1.04	0.01332	N	0.033	0.00882	-1.0569	0.12543	T	0.101	0.37543	T	10	0.03863609	0.02295	T	0.010404	0.26893	T	0.087	0.25287	0.207	0.12356	0.237489013734	0.23353	0.08706746179150747	0.08640	0.15112848726	0.17061	0.249752491713	0.03741	T	0.062939	0.32047	T	-0.247806	0.14369	T	-0.593732	0.13344	T	0.0543712898033456	0.06252	T	0.522448	0.17034	T	0.025811758	0.01561	0.0269177	0.00809	0.025811758	0.01561	0.0269177	0.00809	-4.357	0.28968	T	.	.	0.069	0.03372	B	.;.	.;.	-1.567489	0.00257	0.004	0.34735495764594559	0.02141	0.00419	0.02071	N	AEFDGBHCI	0.028595	0.02547	N	-1.72101771958681	0.00770	0.03325292	-1.76001095577003	0.00896	0.04006642	0.999999999628183	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.15	-4.43	0.03319	-3.213000	0.00614	-4.100000	0.02342	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1996:0.315:0.1655:0.3199	0.542	0.00604	844	0.36711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	33	chr22	44193820	.	C	T	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=790;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.202;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1430	18	0	1	0
chr22	44845291	44845291	G	A	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon8:c.G619A:p.E207K,ARHGAP8:NM_181335:exon8:c.G619A:p.E207K,ARHGAP8:NM_001017526:exon9:c.G712A:p.E238K,PRR5-ARHGAP8:NM_181334:exon11:c.G1012A:p.E338K	.	.	.	.	.	.	.	.	.	.	.	3283043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0061214560368	.	.	6.592e-05	0	8.643e-05	0	0	4.497e-05	0.0022	0.0001	5.17e-05	8	154602	rs540915857	3.01e-05	3.01e-05	1.77e-05	4.263e-05	0.0003	2.282e-05	2.032e-05	0.0002	0.0002	0	0	0	0	0	0	1.529e-05	3.312e-05	0.0003	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.168	0.26852	T	0.238	0.49942	T	0.955	0.54515	P	0.109	0.31370	B	0.109612	0.19477	U	0.262109	0.63604	0.30657	N	1.655	0.42436	L	1.03	0.40469	T	-2.37	0.54546	N	0.499	0.55453	-0.9998	0.29973	T	0.062	0.25815	T	10	0.25405437	0.42780	T	0.006121	0.16023	T	0.169	0.43123	0.492	0.57890	0.290962096972	0.28708	0.5447985108994846	0.55890	.	.	0.626901268959	0.56706	T	0.069757	0.33789	T	-0.208825	0.19545	T	-0.241547	0.50648	T	0.13708770275116	0.16022	T	0.864814	0.59716	D	0.17361973	0.38120	0.17622936	0.40142	0.17361973	0.38119	0.17622936	0.40142	-11.721	0.83466	D	.	.	0.137	0.40522	B	.;.;.;.;.	.;.;.;.;.	4.143568	0.62103	24.4	0.9987517809461709	0.95244	0.86109	0.45329	D	AEFBI	0.480075	0.52195	N	-0.0584989731517468	0.39224	2.309627	-0.0220614880827833	0.38720	2.285341	0.935667004551919	0.27223	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	5.963000	0.70086	10.774000	0.83726	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.287000	0.24188	0.0:0.0:1.0:0.0	13.059	0.58404	987	0.02648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1724.33	36	chr22	44845291	.	G	A	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.309;DP=757;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.427;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1247	18	0	1	0
chr22	44862542	44862542	A	C	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_181335:exon12:c.A1249C:p.T417P,ARHGAP8:NM_001017526:exon13:c.A1342C:p.T448P,PRR5-ARHGAP8:NM_181334:exon15:c.A1642C:p.T548P	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00179490804107	.	0.000599042	0.0010	9.673e-05	0.0003	0	0.0005	0.0007	0	0.0039	0.0007762	120	154602	rs145959767	0.0007	0.0007	0.0006	0.0008	0.0070	0.0007	0.0006	0.0053	0.0047	0.0002	0.0009	3.857e-05	0	0.0006	0.0070	0.0006	0.0008	0.0028	0.0009	0.0009	0.0007	0.0011	0.0041	0.0008	0.0007	0.0033	0.0030	0.0001	0	0.0041	0	0	9.418e-05	0	0.0008	0.0009	0.0019	0.01	0.61437	D	0.109	0.37589	T	0.165	0.57185	B	0.047	0.45749	B	0.013958	0.01377	N	3.192320	1	0.08975	N	1.67	0.42885	L	2.27	0.18414	T	-0.5	0.16187	N	0.152	0.19325	-1.0232	0.22671	T	0.032	0.13811	T	10	0.0057038963	0.00127	T	0.001795	0.03063	T	0.191	0.46948	.	.	0.0806252709748	0.07271	0.3710524537876445	0.51163	.	.	0.508095383644	0.39955	T	0.05588	0.30132	T	-0.496384	0.00599	T	-0.488849	0.23513	T	0.00729759938072632	0.00084	T	0.389061	0.09624	T	0.0796508	0.18209	0.059343465	0.11122	0.0796508	0.18208	0.059343465	0.11121	-2.209	0.04084	T	.	.	0.053	0.01909	B	.;.;.;.	.;.;.;.	-1.196135	0.00534	0.012	0.77755582002624379	0.12008	0.00640	0.02800	N	AEFDBI	0.081546	0.16501	N	-1.31577161347901	0.03494	0.1561818	-1.49288992733271	0.02402	0.1104212	0.015722548148872	0.12748	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.56	-3.75	0.04087	-3.763000	0.00419	-5.810000	0.01589	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4517:0.1913:0.357:0.0	3.885	0.08597	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.005051	0.001359	0.003497	0.000000	0.008621	0.003049	0.003788	0.02632	1737.33	33	chr22	44862542	.	A	C	1737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=1366;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.677;SOR=0.634	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	18	0	1	0
chr22	44916594	44916594	C	T	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon4:c.G214A:p.V72I,PHF21B:NM_138415:exon4:c.G250A:p.V84I,PHF21B:NM_001135862:exon5:c.G250A:p.V84I	.	421	1088	12	1	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0104042366725	0.0043	0.00179712	0.0036	0.0009	0.0035	0	0.0027	0.0051	0.0058	0.0015	0.003965	613	154602	rs138308961	0.0049	0.0049	0.0049	0.0048	0.0076	0.0048	0.0048	0.0058	0.0055	0.0010	0.0034	0.0036	0.0001	0.0027	0.0076	0.0056	0.0042	0.0015	0.0039	0.0039	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0010	0	0.0037	0.0052	0.0010	0.0025	0.0034	0.0064	0.0024	0.0023	0.213	0.19430	T	1.0	0.03286	T	0.002	0.09854	B	0.001	0.04355	B	0.525238	0.11697	N	0.752021	1	0.08975	N	-0.695	0.01866	N	1.79	0.26588	T	-0.48	0.15379	N	0.09	0.06854	-0.9591	0.39349	T	0.017	0.07187	T	10	0.0038067102	0.00071	T	0.010404	0.26893	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.1004894143022053	0.09979	0.221649798542	0.24701	0.321861863136	0.13703	T	0.002552	0.01944	T	-0.573847	0.00210	T	-0.593343	0.13378	T	0.00159362167491895	0.00016	T	0.708829	0.33695	T	0.027578209	0.01969	0.025226051	0.00561	0.027578209	0.01969	0.025226051	0.00561	-4.674	0.33088	T	.	.	0.075	0.09530	B	.;.;.;.	.;.;.;.	0.112492	0.05115	1.646	0.7899496041791233	0.12543	0.27577	0.23316	N	AEFDBI	0.052872	0.09477	N	-1.13130737173451	0.06093	0.2795663	-1.02488837871269	0.09239	0.4585332	0.996356704372072	0.34689	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.06	-4.81	0.02948	0.705000	0.25350	-5.986000	0.01532	-0.828000	0.02899	0.994000	0.38300	0.000000	0.08366	0.908000	0.44358	0.0:0.2463:0.1133:0.6404	8.736	0.33686	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004545	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	464.33	44	chr22	44916594	.	C	T	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=697;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.728;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	18	0	1	0
chr22	45168223	45168223	G	A	exonic	NUP50	.	nonsynonymous SNV	NUP50:NM_007172:exon2:c.G46A:p.D16N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.028624533217	0.0002	0.000399361	0.0004	0	0.0005	0	0	0.0005	0.0011	0.0008	0.0003881	60	154602	rs200329756	0.0004	0.0004	0.0003	0.0004	0.0071	0.0003	0.0003	0.0054	0.0048	0.0003	0.0006	0.0036	0	0	0.0071	0.0002	0.0007	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	2.406e-05	0	0.0003	0.0052	0	0	0.0034	0.0003	0.0014	0.0006	0.087	0.41915	T	0.181	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.03	0.55503	M	.	.	.	-2.45	0.77225	N	0.655	0.66529	-0.3179	0.74480	T	0.379	0.73617	T	9	0.030023932	0.01129	T	0.028625	0.51275	D	0.291	0.61040	.	.	0.879945380425	0.87877	0.49857296278270524	0.49778	1.3598936142	0.84301	0.760837972164	0.76053	T	0.500437	0.82103	D	-0.348859	0.04799	T	-0.345375	0.39735	T	0.0672067887736618	0.08253	T	0.947705	0.82069	D	0.49738714	0.66941	0.32702175	0.58603	0.49738714	0.66942	0.32702175	0.58602	-7.934	0.60620	D	.	.	0.448	0.63783	A	.;.;.;.	.;.;.;.	4.617447	0.73285	26.0	0.99031015038463766	0.50808	0.98626	0.84855	D	AEFBI	0.642682	0.61957	D	0.649628321471278	0.76343	6.469283	0.628604231942256	0.77024	6.600774	0.999999992511103	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.876000	0.62772	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.941	0.79544	982	0.03397	Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61;Nuclear pore complex, NUP2/50/61	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.005051	0.002717	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1078.33	33	chr22	45168223	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.414;DP=679;ExcessHet=0;FS=0.957;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-2.391;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	18	0	1	0
chr22	45212334	45212334	G	A	exonic	KIAA0930	.	stopgain	KIAA0930:NM_015264:exon1:c.C10T:p.Q4X	.	428	1091	3	0	0	3	0.001373	.	.	.	2819660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0029	0.00199681	0.0038	0.0008	0.0014	0	0.0024	0.0059	0.0034	0.0020	0.0036481	564	154602	rs150665432	0.0039	0.0039	0.0038	0.0040	0.0052	0.0038	0.0038	0.0042	0.0042	0.0006	0.0021	0.0057	0	0.0039	0.0052	0.0043	0.0033	0.0024	0.0031	0.0031	0.0034	0.0029	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0143	0.0022	0.0043	0	0.0019	0	0.0049	0.0052	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.029	0.05929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.37721	0.03244	T	-0.313108	0.43325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	-0.192803	0.03128	0.501	0.97273141113812711	0.33144	0.06331	0.12329	N	ALL	0.041809	0.06406	N	-0.264687512630437	0.30521	1.702629	-0.700882714057974	0.16939	0.8984094	0.999999999998426	0.74766	0.693307	0.56506	0	0.379588	0.06130	0	0.658952	0.52864	0	0.372554	0.06265	0	.	.	2.41	-1.47	0.08312	-0.757000	0.04877	-0.195000	0.11000	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1506:0.3861:0.4633:0.0	4.865	0.12962	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	878.33	37	chr22	45212334	.	G	A	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.499;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-1.886;SOR=0.677	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1467	18	0	1	0
chr22	45327918	45327918	G	A	exonic	FAM118A	.	nonsynonymous SNV	FAM118A:NM_001349913:exon4:c.G377A:p.R126Q,FAM118A:NM_001349914:exon4:c.G380A:p.R127Q,FAM118A:NM_017911:exon4:c.G377A:p.R126Q,FAM118A:NM_001104595:exon5:c.G377A:p.R126Q,FAM118A:NM_001349916:exon6:c.G419A:p.R140Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00851313102356	.	0.000199681	1.649e-05	0	8.651e-05	0	0	0	0	6.061e-05	1.94e-05	3	154602	rs188564203	1.437e-05	1.437e-05	1.225e-05	1.65e-05	8.944e-05	9.23e-06	7.84e-06	3.765e-05	2.662e-05	0	8.944e-05	0	2.519e-05	0	0	7.194e-06	1.656e-05	8.115e-05	1.969e-05	1.968e-05	3.853e-05	0	0.0001	5.24e-06	2.45e-06	2.258e-05	9.06e-06	2.405e-05	0	0.0001	0	0	0	0	0	0	0	0.654	0.04786	T	1.0	0.02503	T	0.0	0.02946	B	0.0	0.01387	B	0.000089	0.51296	N	0.134028	0.999991	0.08975	N	-0.69	0.01958	N	1.0	0.41392	T	1.28	0.00973	N	0.102	0.13911	-1.0895	0.05616	T	0.049	0.20750	T	10	0.022418112	0.00559	T	0.008513	0.22507	T	0.074	0.21613	.	.	0.0675242888579	0.06100	0.07261002388641012	0.07198	0.232228870902	0.25770	0.344496905804	0.17108	T	0.006841	0.06266	T	-0.330352	0.06085	T	-0.536457	0.18647	T	0.0427215248346329	0.04187	T	0.622038	0.23930	T	0.018897627	0.00413	0.035125207	0.02707	0.018897627	0.00413	0.035125207	0.02707	1.843	0.00060	T	.	.	0.055	0.00861	B	.;.;.;.	.;.;.;.	1.930201	0.24512	16.42	0.23969744186586889	0.01038	0.10950	0.16305	N	AEFDGBI	0.033137	0.03873	N	-0.650269625720964	0.17453	0.8981859	-0.451205429778373	0.23514	1.282739	0.950534155528779	0.27900	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.08	0.46880	5.767000	0.68502	3.859000	0.40127	-0.096000	0.16002	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.8438:0.0:0.1562:0.0	8.887	0.34571	981	0.03995	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1613.33	125	chr22	45327918	.	G	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=1406;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.495;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	18	0	1	0
chr22	45541318	45541318	G	A	exonic	FBLN1	.	nonsynonymous SNV	FBLN1:NM_001996:exon9:c.G1012A:p.V338M,FBLN1:NM_006485:exon9:c.G1012A:p.V338M,FBLN1:NM_006486:exon9:c.G1012A:p.V338M,FBLN1:NM_006487:exon9:c.G1012A:p.V338M	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	271226	not_specified|FBLN1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0787383600032	.	.	0.0002	0	8.643e-05	0	0	0.0001	0.0022	0.0011	0.0001876	29	154602	rs766511464	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0012	0	4.472e-05	3.826e-05	0	0	0.0009	6.924e-05	0.0002	0.0014	7.882e-05	7.88e-05	7.706e-05	8.066e-05	0.0006	4.495e-05	3.511e-05	0.0002	8.981e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.071	0.35165	T	0.159	0.31527	T	1.0	0.90584	D	0.982	0.81110	D	0.027314	0.25777	N	0.439260	0.985965	0.24661	N	1.245	0.31408	L	-2.25	0.88997	D	-0.32	0.12283	N	0.295	0.33360	-0.1394	0.79179	T	0.653	0.87916	D	10	0.06157714	0.07741	T	0.078738	0.73075	D	0.288	0.60691	.	.	0.712324783068	0.70981	0.49170315830137373	0.49091	1.16983669901	0.79729	0.611775100231	0.54567	T	0.480118	0.80924	T	-0.266541	0.12145	T	-0.196177	0.55008	T	0.0752784387368085	0.09373	T	0.858114	0.55771	D	0.035944536	0.04328	0.04856181	0.07240	0.035944536	0.04328	0.04856181	0.07240	-6.686	0.51705	T	.	.	0.133	0.29642	B	.;.;.;.;.	.;.;.;.;.	4.391863	0.67780	25.1	0.99855797152208603	0.93458	0.84246	0.43329	D	AEFDBI	0.358368	0.44907	N	0.458753326549253	0.64700	4.730679	0.498564181852397	0.67894	5.145639	0.999702713192535	0.41986	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.41	5.41	0.78313	2.321000	0.43465	7.395000	0.58538	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.0:0.1414:0.7125:0.1461	10.666	0.44927	906	0.23090	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1725.33	45	chr22	45541318	.	G	A	1725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=856;ExcessHet=0;FS=1.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.95;SOR=0.561	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	18	0	1	0
chr22	46256839	46256839	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G6484A:p.V2162I	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0022	0.00399361	0.0044	9.639e-05	0.0018	0.0001	0.0005	0.0032	0.0033	0.0174	0.0040232	622	154602	rs76372072	0.0031	0.0031	0.0025	0.0037	0.0191	0.0030	0.0030	0.0183	0.0180	0.0005	0.0019	0.0170	7.557e-05	0.0007	0.0104	0.0018	0.0041	0.0191	0.0022	0.0022	0.0019	0.0025	0.0207	0.0020	0.0019	0.0174	0.0162	0.0003	0	0.0011	0.0153	0.0004	0.0005	0.0238	0.0020	0.0014	0.0207	1.0	0.00964	T	1.0	0.01155	T	0.083	0.24734	B	0.018	0.18489	B	0.119433	0.19074	N	0.500458	1	0.08975	N	-1.32	0.00691	N	-0.3	0.67874	T	0.31	0.04022	N	0.044	0.01658	-0.9706	0.37073	T	0.042	0.18243	T	10	0.0026666224	0.00041	T	.	.	.	0.064	0.18567	.	.	0.270447802918	0.26645	0.09058381281550645	0.08991	.	.	0.261234730482	0.05039	T	0.130753	0.45983	T	-0.595348	0.00156	T	-0.613673	0.11689	T	0.000663350369647646	0.00006	T	0.511749	0.16382	T	0.0204741	0.00607	0.029370124	0.01267	0.0204741	0.00607	0.029370124	0.01267	-2.764	0.07856	T	.	.	0.055	0.00382	B	.	.	-0.625561	0.01504	0.095	0.67633524143193113	0.08413	0.03233	0.08247	N	AEFBCI	0.022214	0.01082	N	-1.41335156673469	0.02521	0.1114255	-1.30052812905977	0.04424	0.2086448	0.990116198005955	0.32043	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.56	-1.25	0.08920	-0.078000	0.11338	-4.310000	0.02224	-0.811000	0.03066	0.059000	0.21734	0.000000	0.08366	0.670000	0.33251	0.0:0.4655:0.1792:0.3553	5.541	0.16325	928	0.17405	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.008152	0.000000	0.150000	0.025862	0.009146	0.007576	0.02632	1400.33	64	chr22	46256839	.	C	T	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=881;ExcessHet=0;FS=1.378;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.418;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	18	0	1	0
chr22	46258711	46258711	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A4612G:p.T1538A	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	7.7e-05	0.00898562	0.0047	0	0.0003	0.0001	0	0	0.0022	0.0344	0.004172	645	154602	rs202165704	0.0020	0.0020	0.0011	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	0.0002	4.472e-05	0	0.0002	0	0.0005	1.169e-05	0.0025	0.0311	0.0012	0.0012	0.0006	0.0018	0.0356	0.0010	0.0010	0.0313	0.0296	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0356	0.485	0.08115	T	0.761	0.04619	T	0.002	0.09854	B	0.001	0.04355	B	0.039910	0.01870	N	2.415630	1	0.08975	N	0	0.06538	N	1.34	0.34841	T	-0.15	0.09297	N	0.016	0.00203	-0.9940	0.31565	T	0.044	0.18906	T	10	0.0016500056	0.00020	T	.	.	.	0.018	0.03083	.	.	0.12205267543	0.11705	0.20266810763099014	0.20183	.	.	0.2238894701	0.01546	T	0.153485	0.49435	T	-0.735343	0.00022	T	-0.804671	0.01788	T	0.0182850710154796	0.00547	T	0.258174	0.04088	T	0.027410258	0.01928	0.036764603	0.03188	0.027410258	0.01928	0.036764603	0.03187	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.322818	0.02520	0.299	0.43493681200491102	0.03278	0.10005	0.15628	N	AEFBCI	0.052123	0.09273	N	-1.53503401441963	0.01624	0.07099663	-1.54259828590633	0.02027	0.09265867	0.996991236474864	0.35182	0.549168	0.22868	0	0.59043	0.45803	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	4.1	-3.08	0.05022	-0.523000	0.06316	0.602000	0.19937	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.0:0.6484:0.0:0.3516	11.060	0.47162	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1908.33	112	chr22	46258711	.	T	C	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1222;ExcessHet=0;FS=5.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.501;SOR=1.146	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	18	0	1	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.07895	7786.79	35	chr22	46262091	.	G	A	7786.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.779;DP=1269;ExcessHet=0.3672;FS=1.097;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.542;SOR=0.608	GT:AD:DP:GQ:PL	0/1:98,93:191:99:2423,0,2722	16	0	3	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016014	0.000000	0.000000	0.023810	0.000000	0.000000	0.016393	0.050000	0.05556	455.61	20	chr22	46262935	.	C	T	455.61	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.09;DP=389;ExcessHet=0.119;FS=4.404;InbreedingCoeff=-0.0715;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.889;SOR=0.605	GT:AD:DP:GQ:PL	0/1:7,12:19:99:266,0,171	16	0	2	1
chr22	46297440	46297440	C	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.C40G:p.R14G	.	425	1091	6	0	0	6	0.00274223	.	.	.	758128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.038	.	7.7e-05	0.00778754	0.0042	0	0.0002	0.0001	0	0	0.0022	0.0306	0.0037128	574	154602	rs201036893	0.0017	0.0017	0.0010	0.0025	0.0274	0.0017	0.0017	0.0265	0.0261	0.0002	4.473e-05	0	0.0002	0	0.0005	9.895e-06	0.0022	0.0274	0.0011	0.0011	0.0006	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0321	0.12	0.27904	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.94	0.25118	N	0.142	0.14196	-1.0129	0.26007	T	0.024	0.10103	T	6	0.0024000406	0.00036	T	.	.	.	0.038	0.09825	.	.	0.16115917748	0.15686	0.09620819248204526	0.09552	0.256701344774	0.28238	0.302537381649	0.10780	T	.	.	.	-0.684896	0.00045	T	-0.734952	0.04106	T	0.0830158910860818	0.10368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	1.509852	0.19395	14.24	0.94806902760178513	0.25562	0.05333	0.11187	N	ALL	0.072271	0.14417	N	-0.37242411969415	0.26456	1.443993	-0.523116388508234	0.21526	1.164904	0.999999997581611	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.48	2.48	0.29194	1.228000	0.32190	1.067000	0.23771	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.091000	0.17840	0.0:1.0:0.0:0.0	8.571	0.32728	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1556.33	34	chr22	46297440	.	C	G	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=786;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.151;SOR=0.57	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	18	0	1	0
chr22	46308680	46308680	T	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon4:c.T499G:p.Y167D	.	405	1107	8	2	0	12	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00874664029281	0.0005	0.000798722	0.0011	0	0.0002	0.0012	0	0.0011	0	0.0027	0.0008991	139	154602	rs141501144	0.0006	0.0006	0.0005	0.0007	0.0040	0.0005	0.0005	0.0027	0.0023	0	0.0001	0.0116	0.0005	0	0.0040	0.0002	0.0014	0.0027	0.0006	0.0006	0.0005	0.0007	0.0039	0.0005	0.0004	0.0026	0.0021	4.808e-05	0	6.531e-05	0.0098	0.0006	0	0	0.0004	0.0014	0.0039	0.057	0.37966	T	0.038	0.51421	D	.	.	.	.	.	.	0.022991	0.26527	N	0.473675	0.999997	0.08975	N	.	.	.	3.15	0.07820	T	-3.28	0.65627	D	0.469	0.50508	-1.0926	0.05112	T	0.035	0.15291	T	10	0.008064985	0.00183	T	0.008747	0.23099	T	0.089	0.25827	.	.	0.225215365344	0.22153	0.2669051910823298	0.26603	0.797457833787	0.66099	0.358056128025	0.19102	T	.	.	.	-0.458462	0.01005	T	-0.43469	0.29404	T	0.0774362998428014	0.09655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.59722	A	.	.	2.832516	0.37348	20.5	0.98364601840822086	0.40678	0.85753	0.44921	D	AEFBI	0.094496	0.19106	N	0.0564613336504584	0.44441	2.718042	-0.0415350150746126	0.37858	2.222449	0.896073092476226	0.25970	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	2.18	0.26813	2.495000	0.44997	2.267000	0.31803	0.665000	0.62972	0.997000	0.40164	0.995000	0.32472	0.852000	0.40310	0.0:0.215:0.0:0.785	8.968	0.35051	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1435.33	117	chr22	46308680	.	T	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.882;DP=1017;ExcessHet=0;FS=7.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.1;SOR=1.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	18	0	1	0
chr22	46377186	46377186	A	G	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon24:c.T7459C:p.F2487L,CELSR1:NM_014246:exon24:c.T7459C:p.F2487L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0134940339213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937486076	2.737e-06	3.42e-06	2.723e-06	2.751e-06	0.0007	6.4e-07	4.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.515	0.10643	T	0.004	0.12183	B	0.029	0.21540	B	0.001016	0.40652	U	0.158142	0.588084	0.31043	N	0.88	0.21560	L	1.61	0.28391	T	-1.93	0.44852	N	0.517	0.54757	-1.0764	0.08063	T	0.043	0.18368	T	10	0.31491154	0.48928	T	0.013494	0.32933	T	0.061	0.17616	0.405	0.43738	0.373944490328	0.37009	0.3890781595166675	0.38822	0.21363709283	0.23881	0.710575580597	0.68677	T	0.217602	0.58010	T	-0.153573	0.27755	T	-0.458373	0.26776	T	0.40914335467823	0.29285	T	0.679032	0.28770	T	0.08361173	0.19316	0.0767228	0.17021	0.08361173	0.19316	0.0767228	0.17021	-4.051	0.24564	T	.	.	0.622	0.69763	P	.	.	2.340894	0.30003	18.30	0.93886807653458404	0.23908	0.88052	0.47814	D	AEFDGBCI	0.567579	0.57311	D	-0.375534282884014	0.26343	1.437013	-0.215973007711238	0.30962	1.747952	0.999999828668846	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	4.81	3.76	0.42368	4.655000	0.61171	4.899000	0.45841	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.9137:0.0:0.0863:0.0	9.748	0.39622	970	0.06235	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1227.33	33	chr22	46377186	.	A	G	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.232;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.071;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	18	0	1	0
chr22	46391677	46391677	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon15:c.G6104A:p.R2035H,CELSR1:NM_014246:exon15:c.G6104A:p.R2035H	.	.	.	.	.	.	.	.	.	.	.	2684831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.350	0.0441356490929	7.7e-05	0.000199681	3.701e-05	0.0001	0	0	0	3.34e-05	0	6.722e-05	3.23e-05	5	154602	rs372618228	1.716e-05	1.984e-05	1.776e-05	1.656e-05	2.521e-05	1.178e-05	9.96e-06	9.32e-06	7.62e-06	0	2.269e-05	0	2.521e-05	0	0	1.53e-05	8.314e-05	1.166e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.065	0.36310	T	0.017	0.60337	D	0.382	0.34403	B	0.099	0.30579	B	0.000001	0.62929	U	0.000000	0.999871	0.50225	D	2.56	0.74772	M	-0.09	0.64086	T	-2.91	0.60982	D	0.258	0.29197	-0.2184	0.77193	T	0.345	0.70980	T	10	0.3919683	0.54956	T	0.044136	0.61338	D	0.350	0.67142	.	.	0.595986907406	0.59277	0.3092085007053386	0.30833	0.302320151578	0.32561	0.522757649422	0.42014	T	0.319268	0.69057	T	0.0340371	0.56260	T	-0.0882545	0.64293	T	0.697604894638062	0.40605	D	0.874313	0.58483	D	0.36932275	0.58535	0.26115176	0.51888	0.36932275	0.58535	0.26115176	0.51887	-8.58	0.64957	D	.	.	0.082	0.08851	B	.	.	3.842924	0.55623	23.6	0.99770078584663568	0.85834	0.96027	0.67203	D	AEFDBI	0.611650	0.60002	D	0.310386645436711	0.56680	3.833215	0.317702998336907	0.56581	3.821498	0.999999999996164	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.43	4.43	0.52967	3.677000	0.54354	4.648000	0.44184	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	16.657	0.85087	970	0.06235	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|GPCR, family 2, extracellular hormone receptor domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1058.33	45	chr22	46391677	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=977;ExcessHet=0;FS=1.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.702;SOR=0.878	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	18	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S,CELSR1:NM_014246:exon12:c.A5651G:p.N1884S	.	417	1053	52	0	0	52	0.0240964	.	.	.	2736118	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022750	0.020408	0.020436	0.032164	0.100000	0.025862	0.018750	0.011364	0.02632	818.33	36	chr22	46397724	.	T	C	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=700;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.535;SOR=0.352	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1161	18	0	1	0
chr22	46534407	46534407	C	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G2764T:p.G922C,CELSR1:NM_014246:exon1:c.G2764T:p.G922C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.104205490749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.017	0.60337	D	1.0	0.90584	D	0.992	0.80445	D	0.000002	0.62929	U	0.000000	0.999763	0.48888	D	4.135	0.97499	H	2.0	0.21473	T	-4.68	0.79659	D	0.652	0.66272	0.523	0.90863	D	0.645	0.87606	D	10	0.91912127	0.91269	D	0.104205	0.77866	D	0.405	0.71791	0.797	0.91729	0.773313398759	0.77123	0.8120034560889772	0.81156	1.82600149433	0.92012	0.718190729618	0.69782	T	0.663471	0.89929	D	0.107827	0.65125	D	-0.0828911	0.64692	T	0.997039496898651	0.90620	D	0.948505	0.80194	D	0.7337582	0.79936	0.50989336	0.71677	0.7337582	0.79937	0.50989336	0.71678	-11.478	0.82215	D	.	.	0.669	0.71697	P	.	.	4.665462	0.74508	26.2	0.99597426905827879	0.73983	0.91339	0.53334	D	AEFDBCI	0.714671	0.66708	D	0.362029902825829	0.59377	4.11668	0.246138234394009	0.52429	3.417869	0.999999952411652	0.74766	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.42	3.41	0.38145	3.755000	0.54910	4.931000	0.46129	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.813000	0.38311	0.0:0.9157:0.0:0.0843	12.061	0.52862	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2007.33	114	chr22	46534407	.	C	A	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=1872;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.475;SOR=0.634	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	18	0	1	0
chr22	46536243	46536243	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G928A:p.V310I,CELSR1:NM_014246:exon1:c.G928A:p.V310I	.	423	1096	3	0	0	3	0.00136674	.	.	.	2819723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.00239617	0.0008	0	0.0002	0	0	0.0001	0	0.0054	0.0007503	116	154602	rs150808525	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	0	2.236e-05	0	0	5.784e-05	0.0003	7.105e-05	0.0003	0.0038	0.0002	0.0002	0.0002	0.0002	0.0037	0.0001	0.0001	0.0024	0.0020	2.404e-05	0	6.532e-05	0	0	0	0	0.0001	0	0.0037	0.256	0.16793	T	0.506	0.10967	T	0.048	0.22112	B	0.019	0.18783	B	0.412987	0.12971	U	0.634032	1	0.08975	N	1	0.25136	L	4.65	0.01779	T	-0.53	0.16393	N	0.044	0.01658	-0.9101	0.46842	T	0.004	0.01261	T	10	0.01774636	0.00381	T	.	.	.	0.023	0.04649	.	.	0.158540857583	0.15491	0.33828382283806535	0.33741	0.591261029713	0.54567	0.359356671572	0.19292	T	0.103788	0.41276	T	-0.713121	0.00030	T	-0.79631	0.01996	T	0.0138096194577557	0.00261	T	0.744825	0.36507	T	0.030069316	0.02607	0.032399897	0.01971	0.030069316	0.02606	0.032399897	0.01970	-4.739	0.33872	T	.	.	0.079	0.07318	B	.	.	1.629259	0.20803	14.92	0.96024134979002873	0.28483	0.10821	0.16216	N	AEFDBCI	0.086398	0.17518	N	-0.903125470701839	0.10769	0.5162358	-0.891917146279062	0.12284	0.6310446	0.99994451715475	0.47345	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.18	0.331	0.15174	-0.034000	0.12176	0.749000	0.21222	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.1302:0.3846:0.3587:0.1265	3.382	0.06835	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2634.33	38	chr22	46536243	.	C	T	2634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.765;SOR=0.709	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	18	0	1	0
chr22	46666871	46666871	G	A	exonic	GRAMD4	.	nonsynonymous SNV	GRAMD4:NM_001366660:exon10:c.G934A:p.V312M,GRAMD4:NM_015124:exon10:c.G856A:p.V286M	.	419	1099	4	0	0	4	0.00181653	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00968416266399	.	0.000199681	0.0001	0	0	0	0	0	0	0.0011	0.00011	17	154602	rs564241063	5.686e-05	6.225e-05	3.999e-05	7.393e-05	0.0008	4.673e-05	4.294e-05	0.0006	0.0006	3.067e-05	0	0	2.59e-05	0	0.0002	7.259e-06	8.401e-05	0.0008	3.282e-05	3.28e-05	1.284e-05	5.368e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.132	0.26519	T	0.36	0.16964	T	0.109	0.26142	B	0.022	0.19653	B	0.001300	0.39521	N	0.162143	0.987732	0.40641	D	1.14	0.29013	L	0.88	0.46028	T	-0.45	0.14782	N	0.22	0.24634	-1.0821	0.06946	T	0.054	0.22959	T	10	0.014816016	0.00311	T	0.009684	0.25290	T	0.045	0.12272	0.158	0.06178	0.082315109003	0.07666	0.2992128366532497	0.29834	0.592652672428	0.54645	0.321973741055	0.13721	T	0.034383	0.23298	T	-0.470375	0.00845	T	-0.51726	0.20572	T	0.0443734971137247	0.04488	T	0.875013	0.58582	D	0.035678625	0.04245	0.04834932	0.07162	0.035678625	0.04245	0.04834932	0.07161	-4.919	0.35948	T	.	.	0.075	0.05317	B	.;.	.;.	1.691974	0.21554	15.25	0.96420348976778536	0.29754	0.17852	0.20015	N	AEFDBI	0.157738	0.28329	N	-0.81628063832497	0.12895	0.6315379	-0.736570874549606	0.16054	0.847395	0.992484742868517	0.32856	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.699875	0.68795	0	.	.	4.79	3.78	0.42629	0.533000	0.22791	6.323000	0.55448	-0.104000	0.15758	0.148000	0.23625	1.000000	0.68203	0.046000	0.14843	0.1829:0.0:0.8171:0.0	8.473	0.32158	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	36	chr22	46666871	.	G	A	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=751;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.025;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	18	0	1	0
chr22	46707915	46707915	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon6:c.G643A:p.A215T	.	426	1094	2	0	0	2	0.000913242	.	.	.	2343233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00785244467332	.	.	3.314e-05	0	8.654e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs753362414	6.5e-05	6.567e-05	6.671e-05	6.326e-05	0.0009	5.429e-05	5.042e-05	0.0003	0.0002	0	0.0002	0	0.0001	0	0.0009	4.137e-05	0.0002	0.0003	5.909e-05	5.905e-05	5.14e-05	6.714e-05	0.0004	3.075e-05	2.209e-05	8.87e-05	5.282e-05	2.405e-05	0	0.0003	0	0	0	0.0034	1.47e-05	0	0.0004	0.438	0.09319	T	0.476	0.12037	T	0.593	0.39147	P	0.108	0.31289	B	0.020697	0.26986	N	0.430986	0.980628	0.39686	D	1.845	0.48678	L	2.11	0.19860	T	-1.36	0.33798	N	0.119	0.10911	-1.0853	0.06353	T	0.050	0.21300	T	10	0.067810535	0.09501	T	0.007852	0.20824	T	0.039	0.10176	.	.	0.208816687407	0.20498	0.38977542830464823	0.38892	0.608113782558	0.55596	0.454645335674	0.32579	T	0.126956	0.45367	T	-0.446847	0.01179	T	-0.563485	0.16050	T	0.106128573417664	0.13019	T	0.931507	0.74506	D	0.07328052	0.16363	0.13413227	0.32148	0.07328052	0.16362	0.13413227	0.32147	-9.971	0.73738	D	.	.	0.078	0.06896	B	.	.	3.075997	0.41366	21.3	0.99787494823992418	0.87396	0.49169	0.28372	N	AEFDBI	0.044106	0.07055	N	-0.310280778933876	0.28758	1.588817	-0.29829073775611	0.28155	1.567566	0.0335242695507756	0.14110	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.01	2.73	0.31266	1.304000	0.33087	4.579000	0.43912	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.818000	0.38543	0.5622:0.4378:0.0:0.0	9.942	0.40756	702	0.57624	Diacylglycerol kinase, catalytic domain|Diacylglycerol kinase, catalytic domain|Diacylglycerol kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1631.33	34	chr22	46707915	.	C	T	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.118;DP=766;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.406;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	18	0	1	0
chr22	49626891	49626891	A	G	exonic	C22orf34	.	nonsynonymous SNV	C22orf34:NM_001289922:exon2:c.T4C:p.C2R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000177347955543	.	0.00119808	6.836e-05	0.0012	0	0	0	0	0	0	0.0001164	18	154602	rs113891019	0.0002	0.0002	0.0003	0.0002	0.0062	0.0002	0.0002	0.0054	0.0051	0.0062	0.0004	0	0	0	0.0016	7.71e-05	0.0007	2.625e-05	0.0014	0.0014	0.0014	0.0015	0.0047	0.0013	0.0012	0.0042	0.0040	0.0047	0	0.0005	0	0	0	0.0068	0.0001	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3920.33	34	chr22	49626891	.	A	G	3920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=1016;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.942;SOR=0.643	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1665	18	0	1	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.020202	0.021739	0.014620	0.000000	0.025862	0.009146	0.007576	0.02632	1403.33	91	chr22	49884936	.	C	T	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.164;DP=1823;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.583;SOR=0.571	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	18	0	1	0
chr22	49922287	49922325	CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	456	944	80	6	36	128	0.0464646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6401.57	82	chr22	49922287	.	CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	6401.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.743;DP=1100;ExcessHet=0.0506;FS=0.906;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.616;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	18	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5161.29	82	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5161.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.299;DP=1193;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.471;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:49,0:92:99:0|1:49922284_CG_C:1299,1446,3300:49922284	15	1	3	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,43:92:99:0|1:49922284_CG_C:1299,0,1724:49922284	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,43:92:99:0|1:49922284_CG_C:1299,0,1724:49922284	13	1	4	1
chr22	49997398	49997398	C	T	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon13:c.G896A:p.C299Y,IL17REL:NM_001371416:exon13:c.G1112A:p.C371Y	.	416	1078	27	1	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0038	0.00978435	0.0102	0.0011	0.0203	0.0095	0.0156	0.0069	0.0097	0.0207	0.0088356	1366	154602	rs149914294	0.0072	0.0072	0.0068	0.0076	0.0203	0.0071	0.0070	0.0195	0.0192	0.0009	0.0171	0.0023	0.0115	0.0136	0.0104	0.0056	0.0062	0.0203	0.0066	0.0066	0.0062	0.0070	0.0252	0.0063	0.0061	0.0216	0.0202	0.0008	0	0.0085	0.0037	0.0099	0.0126	0.0170	0.0074	0.0057	0.0252	0.014	0.53172	D	0.057	0.46406	T	0.761	0.43566	P	0.463	0.46548	P	0.200040	0.16624	U	0.423844	0.995598	0.23251	N	1.995	0.54099	M	1.91	0.23283	T	-3.74	0.71042	D	0.384	0.42541	-1.0826	0.06852	T	0.029	0.12278	T	10	0.004169047	0.00082	T	.	.	.	0.041	0.10877	.	.	.	.	0.7003880099128312	0.69979	0.566038059239	0.52916	0.587475061417	0.51138	T	0.072536	0.34477	T	-0.515064	0.00470	T	-0.497035	0.22657	T	0.043016398541308	0.04240	T	0.473453	0.14099	T	0.16738981	0.37132	0.2157739	0.46179	0.16738981	0.37132	0.2157739	0.46178	-4.617	0.32385	T	.	.	0.353	0.57016	A	.;.	.;.	1.593040	0.20375	14.72	0.5374895596968956	0.05000	0.37034	0.25669	N	AEFDBI	0.100557	0.20218	N	-0.404946728151991	0.25295	1.372082	-0.510310680304286	0.21873	1.185335	0.1196562036741	0.16849	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	2.39	1.34	0.21018	-0.038000	0.12096	1.234000	0.25062	-0.204000	0.08590	0.000000	0.06391	0.874000	0.27626	0.458000	0.28074	0.0:0.8196:0.0:0.1804	5.122	0.14198	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006054	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.022727	0.02632	1090.33	35	chr22	49997398	.	C	T	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.084;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.326;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr22	49997475	49997475	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001371417:exon13:c.A1102G:p.M368V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	932.33	35	chr22	49997475	.	T	C	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=729;ExcessHet=0;FS=2.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.764;SOR=0.425	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	18	0	1	0
chr22	49998059	49998059	G	A	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon11:c.C785T:p.P262L,IL17REL:NM_001371416:exon11:c.C1001T:p.P334L,IL17REL:NM_001371417:exon11:c.C1001T:p.P334L	.	353	1140	27	2	0	31	0.0134141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0046	0.00978435	0.0109	0.0014	0.0200	0.0102	0.0142	0.0078	0.0096	0.0213	0.009353	1446	154602	rs142430606	0.0075	0.0076	0.0070	0.0081	0.0202	0.0074	0.0074	0.0194	0.0191	0.0010	0.0159	0.0026	0.0117	0.0139	0.0098	0.0062	0.0064	0.0202	0.0072	0.0072	0.0068	0.0076	0.0253	0.0068	0.0067	0.0216	0.0203	0.0009	0	0.0086	0.0046	0.0102	0.0128	0.0170	0.0086	0.0061	0.0253	0.294	0.14793	T	0.484	0.11760	T	0.196	0.29532	B	0.016	0.17743	B	0.877826	0.07216	N	1.071190	1	0.08975	N	1.4	0.35362	L	2.55	0.13795	T	-2.96	0.61722	D	0.162	0.17002	-0.9609	0.39012	T	0.011	0.03996	T	10	0.0031473637	0.00053	T	.	.	.	0.051	0.14325	.	.	.	.	0.28385682497838705	0.28298	0.23272974605	0.25809	0.401216804981	0.25237	T	0.020021	0.15839	T	-0.623332	0.00105	T	-0.652555	0.08776	T	0.0182060946116514	0.00541	T	0.50185	0.15733	T	0.055870853	0.10916	0.09897229	0.23614	0.055870853	0.10915	0.09897229	0.23613	-8.295	0.63062	D	.	.	0.097	0.15609	B	.;.	.;.	1.469939	0.18935	14.00	0.61975538515918471	0.06845	0.01983	0.05993	N	AEFDBI	0.035760	0.04655	N	-0.962792134157025	0.09407	0.4450946	-0.958087245727032	0.10736	0.5426275	0.140524573342122	0.17264	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	-1.9	0.07248	-0.496000	0.06517	0.036000	0.13800	-0.132000	0.13132	0.000000	0.06391	0.004000	0.18990	0.579000	0.30870	0.5351:0.0:0.4649:0.0	7.460	0.26457	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.022727	0.02632	810.33	36	chr22	49998059	.	G	A	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=710;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.19;SOR=0.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	18	0	1	0
chr22	49999850	49999850	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon7:c.A452G:p.E151G,IL17REL:NM_001371416:exon7:c.A668G:p.E223G,IL17REL:NM_001371417:exon7:c.A668G:p.E223G	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0028	0.00938498	0.0170	0.0010	0.0291	0.0073	0.2143	0.0106	0.0217	0.0223	0.0001537	4	26028	rs200958270	0.0068	0.0067	0.0064	0.0073	0.0204	0.0067	0.0067	0.0196	0.0193	0.0009	0.0157	0.0023	0.0110	0.0117	0.0093	0.0056	0.0060	0.0204	0.0065	0.0065	0.0061	0.0069	0.0251	0.0062	0.0060	0.0214	0.0201	0.0010	0	0.0085	0.0037	0.0101	0.0108	0.0170	0.0074	0.0052	0.0251	0.006	0.61437	D	0.079	0.42086	T	0.718	0.42284	P	0.295	0.40843	B	0.200749	0.16606	U	0.547580	1	0.08975	N	2.175	0.60977	M	2.34	0.16351	T	-4.59	0.78891	D	0.32	0.36043	-1.0575	0.12388	T	0.021	0.09056	T	10	0.0023868978	0.00035	T	.	.	.	0.037	0.09474	.	.	.	.	0.4867419778835534	0.48594	0.37277209944	0.38762	0.689770460129	0.65673	T	0.052898	0.29291	T	-0.542197	0.00325	T	-0.536009	0.18690	T	0.0281239854340343	0.01706	T	0.417258	0.10990	T	0.2990288	0.52817	0.26127082	0.51902	0.2990288	0.52817	0.26127082	0.51901	-7.701	0.59015	D	.	.	0.241	0.47557	B	.;.	.;.	2.852537	0.37665	20.6	0.99089437932231228	0.52173	0.12369	0.17226	N	AEFDBHCI	0.061432	0.11743	N	-0.498912231032657	0.22116	1.178677	-0.686593851938898	0.17295	0.919027	0.990245747383054	0.32087	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.63	1.33	0.20958	0.448000	0.21443	0.412000	0.18122	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.085000	0.17524	0.206:0.0:0.2137:0.5803	4.135	0.09634	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004940	0.000000	0.001453	0.000000	0.000000	0.000000	0.010345	0.020000	0.02632	534.33	35	chr22	49999850	.	T	C	534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.605;DP=635;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.675;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,923	18	0	1	0
chr22	50041808	50041808	C	G	splicing	TTLL8	NM_001350317:exon9:c.752-1G>C	.	.	.	428	1084	10	0	0	10	0.00459137	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0030	0	0	0	0	6.398e-05	0.0017	0.0204	0.0020957	324	154602	rs201710741	0.0013	0.0011	0.0007	0.0019	0.0178	0.0013	0.0012	0.0171	0.0168	7.655e-05	0	0.0005	6.018e-05	0	0.0020	3.994e-05	0.0014	0.0178	0.0008	0.0008	0.0004	0.0011	0.0211	0.0006	0.0006	0.0178	0.0166	0	0	6.534e-05	0.0006	0	0	0	0.0001	0.0005	0.0211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.384957	0.02898	T	-0.312115	0.43432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.156266	0.62380	24.5	0.91656418955500218	0.20945	0.46944	0.27872	N	AEFGBI	.	.	.	0.529829313086846	0.68862	5.276003	0.241925493032905	0.52192	3.395633	0.0177378123217748	0.12983	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.247906	0.32538	4.36	3.34	0.37357	4.734000	0.61738	6.952000	0.57027	0.544000	0.25403	0.997000	0.40164	1.000000	0.68203	0.110000	0.18741	0.1726:0.7329:0.0:0.0946	7.030	0.24139	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	508.33	28	chr22	50041808	.	C	G	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.548;DP=607;ExcessHet=0;FS=6.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.504;SOR=2.093	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,911	18	0	1	0
chr22	50108204	50108204	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon4:c.G511A:p.E171K,MOV10L1:NM_001164105:exon4:c.G451A:p.E151K,MOV10L1:NM_018995:exon4:c.G511A:p.E171K	.	429	1086	7	0	0	7	0.00321248	.	.	.	2367252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0113951479358	0.0002	.	0.0006	9.929e-05	0.0008	0	0.0002	0.0009	0.0023	6.2e-05	0.0005304	82	154602	rs147590689	0.0005	0.0005	0.0005	0.0005	0.0184	0.0004	0.0004	0.0155	0.0145	0.0002	0.0007	0.0008	2.519e-05	0.0005	0.0184	0.0004	0.0007	6.958e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0.0006	0.0034	0.0003	0	0	0.338	0.14743	T	0.628	0.12351	T	0.209	0.29944	B	0.028	0.21332	B	0.000432	0.44522	D	0.230390	0.999943	0.51968	D	1.495	0.37439	L	1.5	0.31205	T	-1.91	0.44471	N	0.376	0.41754	-1.0882	0.05839	T	0.049	0.20789	T	10	0.04287961	0.03081	T	0.011395	0.28966	T	0.052	0.14661	.	.	0.417586769301	0.41374	0.48113192009285644	0.48033	0.113003848232	0.12758	0.551841974258	0.46117	T	0.068948	0.33586	T	-0.411469	0.01944	T	-0.463524	0.26216	T	0.0378089366859491	0.03299	T	0.824018	0.48536	T	0.10496916	0.24816	0.106903814	0.25727	0.10496916	0.24816	0.106903814	0.25726	-8.566	0.66551	D	.	.	0.130	0.37445	B	.;.;.;.	.;.;.;.	2.646161	0.34442	19.63	0.99012786510645634	0.50399	0.55225	0.29811	D	AEFBI	0.142052	0.26439	N	-0.497832587276915	0.22151	1.180802	-0.500824956574363	0.22131	1.200569	0.00758309322979938	0.11500	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.28	2.01	0.25568	3.545000	0.53401	7.611000	0.61914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1643:0.1467:0.689:0.0	6.750	0.22671	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.013587	0.029240	0.000000	0.017241	0.000000	0.000000	0.02632	1711.33	40	chr22	50108204	.	G	A	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=768;ExcessHet=0;FS=5.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.825;SOR=1.204	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1242	18	0	1	0
chr22	50149653	50149653	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164106:exon2:c.G47A:p.G16E,MOV10L1:NM_001164104:exon20:c.G2666A:p.G889E,MOV10L1:NM_001164105:exon20:c.G2606A:p.G869E,MOV10L1:NM_018995:exon20:c.G2666A:p.G889E	.	422	1097	3	0	0	3	0.0013655	.	.	.	2269795	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.759	0.163188706931	.	.	5.009e-05	0	0	0	0	3.029e-05	0.0011	0.0002	3.88e-05	6	154602	rs763186580	2.531e-05	2.531e-05	1.497e-05	3.575e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	0	0	3.826e-05	0	0	0.0002	2.698e-06	6.623e-05	0.0003	6.57e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	4.17	0.97676	H	-1.6	0.82165	D	-7.58	0.96218	D	0.957	0.98466	0.817	0.94618	D	0.812	0.93643	D	10	0.86396056	0.85630	D	0.163189	0.84259	D	0.759	0.91795	0.445	0.50302	0.947695266014	0.94714	0.9364370637697772	0.93623	1.78073540629	0.91395	0.805943965912	0.82870	D	0.867772	0.97118	D	0.255076	0.79073	D	0.424815	0.92891	D	0.994776606559753	0.86277	D	0.975069	0.98514	D	0.94283015	0.95536	0.94496506	0.98088	0.94283015	0.95536	0.94496506	0.98088	-15.337	0.96962	D	.	.	0.990	0.93507	P	.;.;.;.;.	.;.;.;.;.	5.205104	0.87333	29.2	0.99784649171182804	0.87131	0.94099	0.60109	D	AEFDGBCI	0.904156	0.85412	D	0.992200915902067	0.95499	13.67907	0.912933408254571	0.96112	14.31592	0.999999999999977	0.74766	0.67177	0.52595	0	0.615948	0.52940	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	8.782000	0.91448	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	0.0:0.0:1.0:0.0	20.031	0.97535	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1424.33	35	chr22	50149653	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.576;DP=1005;ExcessHet=0;FS=3.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.388;SOR=0.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	18	0	1	0
chr22	50178304	50178304	C	T	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_001160300:exon2:c.C1592T:p.A531V,PANX2:NM_052839:exon2:c.C1592T:p.A531V	.	426	1095	1	0	0	1	0.000456413	.	.	.	2754205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0164621433635	.	.	9.798e-05	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs753087048	1.096e-05	1.573e-05	1.01e-05	1.183e-05	0.0005	6.58e-06	5.22e-06	8.048e-05	3.373e-05	0	0	0	0	0	0.0005	6.527e-06	0.0001	0	2.63e-05	2.628e-05	2.571e-05	2.693e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.157	0.23997	T	0.113	0.36901	T	0.001	0.07471	B	0.002	0.06944	B	0.573551	0.11214	N	0.795808	1	0.08975	N	0.345	0.11182	N	1.91	0.23283	T	0.14	0.06488	N	0.051	0.09066	-0.9910	0.32347	T	0.033	0.13986	T	10	0.029905021	0.01117	T	0.016462	0.37727	T	0.050	0.13987	0.194	0.10571	0.0846915920261	0.08053	0.1298147771076823	0.12906	1.27448055317	0.82373	0.591816961765	0.51750	T	0.008707	0.07977	T	-0.32089	0.06825	T	-0.698713	0.05896	T	0.016313176547365	0.00402	T	0.586841	0.21439	T	0.03818043	0.05038	0.055003416	0.09568	0.03818043	0.05038	0.055003416	0.09568	-5.064	0.37526	T	.	.	0.094	0.14385	B	.;.	.;.	1.276785	0.16762	12.75	0.9128207937220939	0.20542	0.05320	0.11171	N	AEFDBI	0.044408	0.07140	N	-0.913905705363857	0.10516	0.5029035	-0.84832734644147	0.13327	0.6907879	0.99759936730767	0.35797	0.581397	0.33459	0	0.78372	0.99691	0	0.651303	0.49530	0	0.604944	0.38103	0	.	.	4.19	2.89	0.32713	0.748000	0.25970	0.317000	0.17144	-1.115000	0.01481	0.003000	0.16062	0.000000	0.08366	0.896000	0.43308	0.0:0.7759:0.0:0.2241	8.007	0.29495	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	163.33	34	chr22	50178304	.	C	T	163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=602;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=1.06;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,915	18	0	1	0
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN	.	434	1059	25	4	0	33	0.0153417	.	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012876	0.000000	0.018349	0.013889	0.000000	0.000000	0.017857	0.028302	0.02632	219.33	32	chr22	50201141	.	C	G	219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.953;DP=456;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.185;SOR=0.273	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	18	0	1	0
chr22	50208583	50208583	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	3321060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	.	8e-05	.	0.0004	0	0.0002	0	0	0.0002	0.0022	0.0014	0.0003558	55	154602	rs200468030	0.0004	0.0004	0.0003	0.0004	0.0018	0.0004	0.0004	0.0016	0.0015	0	2.236e-05	0	7.557e-05	1.88e-05	0.0002	0.0004	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0	0	0	0	0	0.0004	0	0.0019	0.01	0.56456	D	0.006	0.70582	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	2.14	0.19450	T	-4.02	0.74269	D	0.852	0.84817	-0.4178	0.71463	T	0.227	0.59196	T	10	0.27074018	0.44607	T	.	.	.	0.519	0.79522	.	.	0.668130645813	0.66533	.	.	0.553327762162	0.52107	0.580834031105	0.50202	T	0.095593	0.39653	T	-0.162274	0.26411	T	-0.0464051	0.67268	D	0.469398319721222	0.31509	T	0.974503	0.91007	D	0.35286838	0.57289	0.2134271	0.45852	0.35286838	0.57289	0.2134271	0.45851	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	5.077259	0.84710	28.4	0.99960460336638601	0.99997	0.96564	0.69771	D	AEFDBCI	0.931877	0.92136	D	0.937986401461939	0.93491	12.07573	0.837273401675858	0.92250	11.31987	0.999999999999966	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	9.859000	0.98414	7.333000	0.58213	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.376000	0.26245	0.0:0.0:1.0:0.0	19.073	0.93131	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1064.33	47	chr22	50208583	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=783;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.412;SOR=1.008	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1218	18	0	1	0
chr22	50215867	50215867	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	0.9790	0.746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	.	.	0.0002	0	0.0005	0	0	1.523e-05	0.0023	0.0006	0.0001164	18	154602	rs777867754	7.234e-05	7.388e-05	4.928e-05	9.571e-05	0.0008	6.09e-05	5.635e-05	0.0007	0.0006	0	0	0	0	0	0.0002	2.715e-05	6.684e-05	0.0008	1.97e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.35	0.12305	T	0.423	0.14200	T	0.863	0.47474	P	0.145	0.33871	B	0.000019	0.62929	D	0.067190	1	0.81001	D	2.19	0.61577	M	2.25	0.17761	T	-0.77	0.21429	N	0.717	0.71942	-1.0727	0.08830	T	0.038	0.16376	T	10	0.12803462	0.24352	T	.	.	.	0.210	0.50028	.	.	0.456647468687	0.45291	.	.	0.512778458504	0.49301	0.526624560356	0.42559	T	0.01429	0.12197	T	-0.249845	0.14117	T	-0.215934	0.53127	T	0.251152798599751	0.22924	T	0.929107	0.73907	D	0.15912263	0.35762	0.13171051	0.31622	0.15912263	0.35762	0.13171051	0.31621	.	.	.	.	.	0.173	0.37914	B	.;.	.;.	5.436099	0.90877	32	0.99742085435259387	0.83555	0.98426	0.82655	D	AEFDBCI	0.915701	0.88084	D	0.396293292199272	0.61221	4.320268	0.494047256676993	0.67594	5.10508	0.99999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	9.503000	0.96975	8.467000	0.77261	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	19.562	0.95368	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011450	0.02632	608.33	35	chr22	50215867	.	G	A	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.093;SOR=0.527	GT:AD:DP:GQ:PL	0/0:43,0:43:80:0,80,1238	18	0	1	0
chr22	50217080	50217080	C	T	exonic	SELENOO	.	unknown	UNKNOWN	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.479e-06	0	0	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs760383196	5.066e-05	5.062e-05	4.224e-05	5.917e-05	0.0028	4.129e-05	3.781e-05	0.0017	0.0014	5.974e-05	4.473e-05	0	0	1.912e-05	0.0028	3.867e-05	9.938e-05	4.637e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2203.33	41	chr22	50217080	.	C	T	2203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=940;ExcessHet=0;FS=0.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.631;SOR=0.655	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1294	18	0	1	0
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.02632	2139.33	41	chr22	50217099	.	G	A	2139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=908;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.323;SOR=0.584	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1294	18	0	1	0
chr22	50217293	50217293	C	T	exonic	SELENOO	.	unknown	UNKNOWN	.	404	1111	7	0	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0018	0.000998403	0.0026	0.0003	0.0006	0	0.0030	0.0036	0.0012	0.0027	0.0024773	383	154602	rs144505070	0.0031	0.0031	0.0032	0.0030	0.0036	0.0030	0.0030	0.0035	0.0035	0.0003	0.0012	3.831e-05	5.039e-05	0.0019	0.0012	0.0036	0.0020	0.0022	0.0020	0.0020	0.0020	0.0019	0.0032	0.0018	0.0017	0.0029	0.0027	0.0006	0	0.0014	0	0	0.0020	0	0.0032	0.0024	0.0017	0.254	0.16903	T	0.274	0.22084	T	0.014	0.16867	B	0.002	0.06944	B	0.729696	0.06362	N	1.136030	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.78	0.21644	N	0.175	0.22614	-0.9759	0.35926	T	0.037	0.15813	T	10	0.0039499104	0.00076	T	.	.	.	0.061	0.17616	.	.	0.215109475489	0.21095	.	.	0.0955740792059	0.10794	0.38545113802	0.23026	T	0.013854	0.11904	T	-0.552807	0.00280	T	-0.56603	0.15814	T	0.0152063647921579	0.00333	T	0.513449	0.16474	T	0.05886144	0.11892	0.05593126	0.09903	0.05886144	0.11892	0.05593126	0.09903	.	.	.	.	.	0.085	0.10159	B	.;.	.;.	0.958079	0.13348	9.848	0.95483580423195369	0.27049	0.27395	0.23265	N	AEFDBHCI	0.266688	0.38356	N	-0.909620167007978	0.10616	0.5081651	-0.986055839828371	0.10098	0.5064601	0.998481448164025	0.37052	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.57	-0.755	0.10503	2.110000	0.41497	-1.121000	0.06268	0.524000	0.24156	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1216:0.5234:0.3551:0.0	11.437	0.49316	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1819.33	41	chr22	50217293	.	C	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.125;DP=854;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.389;SOR=0.562	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1294	18	0	1	0
chr22	50217367	50217367	T	C	exonic	SELENOO	.	unknown	UNKNOWN	.	385	1135	1	0	1	2	0.000440335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs750193826	6.985e-05	6.977e-05	3.815e-05	0.0001	0.0010	5.853e-05	5.462e-05	0.0009	0.0008	2.988e-05	0	0	0	0	0.0002	6.296e-06	6.626e-05	0.0010	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.31634	0.07201	T	-0.319912	0.42585	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.721133	0.21908	15.40	0.74514148757126053	0.10723	0.92142	0.55038	D	AEFBHCI	.	.	.	0.669395132454097	0.77627	6.71156	0.379242896397136	0.60287	4.214589	0.99999999454771	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	0.760508	0.45107	4.32	4.32	0.50899	5.622000	0.67427	7.665000	0.64460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.0:1.0	13.636	0.61696	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	41	chr22	50217367	.	T	C	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=824;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=2.06;SOR=0.452	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1294	18	0	1	0
chr22	50217998	50217998	C	T	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon24:c.G5288A:p.R1763Q	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	1052180	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00678204344508	.	.	8.61e-05	0	0.0003	0	0	7.876e-05	0	6.153e-05	6.47e-05	10	154602	rs756770991	2.467e-05	2.463e-05	1.773e-05	3.167e-05	0.0003	1.806e-05	1.603e-05	6.119e-05	3.972e-05	3e-05	0.0001	0	2.519e-05	0	0.0003	2.07e-05	3.317e-05	1.16e-05	1.315e-05	1.313e-05	2.571e-05	0	2.942e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.282	0.15406	T	1.0	0.01155	T	0.089	0.25085	B	0.008	0.13708	B	0.190845	0.16851	N	0.564709	1	0.81001	D	-1.39	0.00611	N	3.18	0.25018	T	-0.32	0.14000	N	0.361	0.40264	-1.0250	0.22083	T	0.016	0.06473	T	10	0.030984491	0.01229	T	0.006782	0.17925	T	0.022	0.04323	0.289	0.24921	0.216624796971	0.21254	0.27593058935923737	0.27506	0.124164387762	0.13980	0.33486956358	0.15669	T	0.014669	0.12441	T	-0.51823	0.00450	T	-0.697464	0.05966	T	0.028810633535154	0.01809	T	0.628837	0.24395	T	0.025800703	0.01559	0.024902364	0.00519	0.025800703	0.01558	0.024902364	0.00519	-3.171	0.12129	T	.	.	0.078	0.12323	B	.;.	.;.	-0.531953	0.01768	0.134	0.78920740191271799	0.12511	0.25271	0.22648	N	AEFDBCI	0.073451	0.14693	N	-1.03522344268964	0.07880	0.3675895	-0.957659204332551	0.10746	0.5431886	0.998895814294873	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	4.65	0.706	0.17290	0.289000	0.18713	-4.037000	0.02379	-0.182000	0.10109	0.100000	0.22794	0.000000	0.08366	0.024000	0.12247	0.1929:0.4198:0.0:0.3872	3.163	0.06137	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1596.33	33	chr22	50217998	.	C	T	1596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=757;ExcessHet=0;FS=1.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.109;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	18	0	1	0
chr22	50220013	50220013	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon17:c.C4111T:p.P1371S	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1510	11	1	0	13	0.00428619	.	.	.	959116	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00661215693462	0.0002	.	0.0004	0.0001	0.0002	0	0.0004	0.0004	0.0012	0.0010	0.0003363	52	154602	rs141419187	0.0007	0.0007	0.0007	0.0007	0.0011	0.0007	0.0007	0.0009	0.0008	0.0001	0.0003	3.826e-05	0	3.754e-05	0.0003	0.0008	0.0008	0.0011	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	7.22e-05	0	0.0003	0	0	0	0.0034	0.0007	0.0005	0.0002	0.728	0.24955	T	0.056	0.46632	T	0.007	0.14184	B	0.01	0.14941	B	0.430857	0.04704	N	1.754090	1	0.21792	N	1.245	0.31408	L	3.02	0.24085	T	-2.11	0.53258	N	0.184	0.19995	-1.0025	0.29197	T	0.048	0.20395	T	10	0.017356247	0.00370	T	0.006612	0.17444	T	0.064	0.18567	.	.	0.232513804876	0.22884	0.25920621884492806	0.25834	0.110930127955	0.12519	0.317449778318	0.13035	T	0.020921	0.16384	T	-0.567692	0.00228	T	-0.644575	0.09339	T	0.00552404392510653	0.00060	T	0.518948	0.16858	T	0.029990869	0.02585	0.045531824	0.06147	0.026778117	0.01780	0.047802147	0.06965	-3.236	0.12926	T	.	.	0.081	0.09917	B	.;.	.;.	1.228440	0.16229	12.40	0.92646693350669507	0.22123	0.17435	0.19836	N	AEFDBCI	0.041692	0.06371	N	-0.88676974984998	0.11156	0.5368888	-0.880420359003195	0.12558	0.64668	0.999972573845968	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.674467	0.66132	0	.	.	5.31	2.03	0.25714	-0.397000	0.07329	0.500000	0.18986	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1768:0.1582:0.665:0.0	5.759	0.17455	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1664.33	127	chr22	50220013	.	G	A	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.883;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chr22	50245674	50245674	C	T	splicing	HDAC10	NM_032019:exon19:c.1986+1G>A;NM_001159286:exon18:c.1926+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501127	0.58359	T	-0.165793	0.57828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.892246	0.56638	23.8	0.98217453372440133	0.39272	0.67181	0.33340	D	AEFDGBHCI	.	.	.	0.630830857562509	0.75133	6.252496	0.382891127134051	0.60511	4.239405	0.999999966293668	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.064036	0.01829	0	0.089488	0.02477	0	0.405713	0.37764	4.47	3.43	0.38372	0.645000	0.24470	2.344000	0.32272	0.524000	0.24156	0.255000	0.24900	0.999000	0.35428	0.528000	0.29660	0.1851:0.8149:0.0:0.0	11.133	0.47581	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	35	chr22	50245674	.	C	T	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.596;SOR=0.826	GT:AD:DP:GQ:PL	0/1:19,21:40:99:685,0,512	18	0	1	0
chr22	50248393	50248394	AG	-	exonic	HDAC10	.	frameshift deletion	HDAC10:NM_001159286:exon10:c.925_926del:p.L309Vfs*60,HDAC10:NM_032019:exon11:c.985_986del:p.L329Vfs*60	.	402	1111	9	0	0	9	0.00403407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.000998403	0.0008	0.0007	0.0007	0.0005	0.0002	0.0009	0.0034	0.0011	0.0006856	106	154602	rs561780178	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0008	0.0010	7.658e-05	0.0006	0.0001	0.0007	0.0007	0.0006	0.0012	0.0005	0.0005	0.0005	0.0005	0.0012	0.0004	0.0004	0.0005	0.0004	0.0005	0	0.0005	0	0.0006	9.414e-05	0.0034	0.0006	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2530.29	37	chr22	50248392	.	CAG	C	2530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.754;DP=878;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=1.1;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chr22	50280808	50280808	G	A	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376875:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376878:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376884:exon23:c.C3929T:p.P1310L,PLXNB2:NM_001376864:exon24:c.C4166T:p.P1389L,PLXNB2:NM_001376866:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376870:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376871:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376880:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376882:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376883:exon24:c.C3905T:p.P1302L,PLXNB2:NM_001376885:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376886:exon24:c.C3836T:p.P1279L,PLXNB2:NM_012401:exon24:c.C3929T:p.P1310L,PLXNB2:NM_001376865:exon25:c.C3998T:p.P1333L,PLXNB2:NM_001376867:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376868:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376873:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376874:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376876:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376877:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376881:exon25:c.C3929T:p.P1310L,PLXNB2:NM_001376872:exon26:c.C3929T:p.P1310L,PLXNB2:NM_001376879:exon26:c.C3929T:p.P1310L	.	435	1072	15	0	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0138106906169	0.0006	0.000998403	0.0010	0.0001	0.0006	0.0001	0.0004	0.0010	0.0024	0.0025	0.0008926	138	154602	rs201776829	0.0011	0.0011	0.0011	0.0012	0.0030	0.0011	0.0011	0.0021	0.0020	0.0005	0.0009	0.0004	0.0002	4.327e-05	0.0030	0.0011	0.0014	0.0024	0.0010	0.0010	0.0010	0.0011	0.0035	0.0009	0.0008	0.0022	0.0017	0.0005	0.0256	0.0008	0.0006	0	0	0.0103	0.0011	0.0015	0.0035	0.024	0.47745	D	0.087	0.40747	T	0.006	0.13644	B	0.013	0.16460	B	0.116020	0.19210	N	0.475666	0.997781	0.22508	N	0.09	0.08384	N	2.79	0.11189	T	-3.09	0.63438	D	0.382	0.42639	-0.9968	0.30810	T	0.015	0.05946	T	10	0.005856663	0.00131	T	0.013811	0.33491	T	0.037	0.09474	.	.	0.151262610727	0.14761	0.32733322017215283	0.32646	0.78643042305	0.65537	0.343950808048	0.17027	T	0.266991	0.63898	T	-0.581398	0.00189	T	-0.613152	0.11730	T	0.0166283862148941	0.00423	T	0.894111	0.63286	D	0.07410875	0.16608	0.07532419	0.16570	0.07410875	0.16608	0.07532419	0.16569	-6.121	0.47281	T	.	.	0.082	0.08754	B	.;.	.;.	2.354145	0.30184	18.36	0.97218903285519076	0.32892	0.56618	0.30163	D	AEFBI	0.357596	0.44857	N	-0.778290179745485	0.13877	0.6868952	-0.723308231340654	0.16380	0.8662819	0.692393905171494	0.22603	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.38	0.739	0.17473	0.755000	0.26070	5.139000	0.47699	-0.222000	0.07959	0.568000	0.27489	1.000000	0.68203	0.271000	0.23793	0.0:0.0:0.4512:0.5488	13.021	0.58193	616	0.66398	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.002725	0.002924	0.000000	0.008621	0.009146	0.000000	0.02632	1517.33	45	chr22	50280808	.	G	A	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=882;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.957;SOR=1.034	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	18	0	1	0
chr22	50282778	50282778	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376875:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376878:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376884:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376864:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376866:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376870:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376871:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376880:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376882:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376883:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376885:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376886:exon18:c.G2827A:p.G943S,PLXNB2:NM_012401:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376865:exon19:c.G2989A:p.G997S,PLXNB2:NM_001376867:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376868:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376873:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376874:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376876:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376877:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376881:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376872:exon20:c.G2920A:p.G974S,PLXNB2:NM_001376879:exon20:c.G2920A:p.G974S	.	372	1149	1	0	0	1	0.000434972	.	.	.	2367879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.0229958588036	8.3e-05	.	0.0002	0	8.859e-05	0	0.0008	6.285e-05	0	0.0010	0.0001682	26	154602	rs201704027	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	0.0003	0.0001	0	2.519e-05	0.0004	0.0002	6.027e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0006	0	0	0.0003	0	0.0001	0.0005	0.0004	0.771	0.03373	T	0.864	0.03371	T	0.157	0.28234	B	0.021	0.19346	B	0.574299	0.05497	N	1.256640	1	0.08975	N	0.925	0.23481	L	4.02	0.03178	T	-0.66	0.19085	N	0.181	0.19593	-0.9078	0.47121	T	0.007	0.02558	T	10	0.022452354	0.00561	T	0.022996	0.45934	T	0.015	0.02232	.	.	0.440148150062	0.43634	0.5185847546440955	0.51781	0.328716719365	0.34987	0.446807771921	0.31508	T	0.05235	0.29136	T	-0.611618	0.00124	T	-0.744059	0.03722	T	0.0110879409183083	0.00161	T	0.523348	0.17107	T	0.03871961	0.05212	0.033472944	0.02247	0.03871961	0.05211	0.033472944	0.02247	-4.383	0.29326	T	.	.	0.079	0.08948	B	.;.	.;.	0.770702	0.11407	8.017	0.76192252598551868	0.11369	0.04990	0.10763	N	AEFDGBHCI	0.125694	0.24231	N	-1.53594850059891	0.01618	0.07074808	-1.56161050646105	0.01896	0.08651025	0.999999999925506	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.82	-0.558	0.11206	-0.898000	0.04213	0.302000	0.16989	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6098:0.144:0.2462	7.203	0.25069	616	0.66398	IPT domain;IPT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1418.33	37	chr22	50282778	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=764;ExcessHet=0;FS=8.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.539;SOR=1.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1323	18	0	1	0
chr22	50447194	50447194	G	A	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon40:c.C5555T:p.P1852L,SBF1:NM_002972:exon41:c.C5630T:p.P1877L	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	404	1098	20	0	0	20	0.00902527	.	.	.	729299	not_provided|SBF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0006	0.000399361	0.0009	0.0001	0.0006	0	0.0003	0.0008	0.0048	0.0023	0.0007568	117	154602	rs200103683	0.0010	0.0010	0.0010	0.0011	0.0033	0.0010	0.0010	0.0024	0.0023	0.0003	0.0008	0.0006	2.519e-05	1.886e-05	0.0033	0.0010	0.0014	0.0027	0.0009	0.0009	0.0007	0.0010	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0.0253	0.0007	0.0009	0	0	0.0136	0.0010	0.0009	0.0021	0.362	0.11844	T	0.309	0.19782	T	.	.	.	.	.	.	0.398856	0.13153	N	0.703897	0.991333	0.24688	N	.	.	.	2.74	0.11730	T	-2.18	0.49187	N	0.114	0.18920	-0.9768	0.35727	T	0.015	0.05897	T	10	0.005461335	0.00120	T	.	.	.	0.105	0.29889	.	.	0.187035705434	0.18338	0.20266938833719525	0.20183	.	.	0.519870519638	0.41609	T	.	.	.	-0.512535	0.00486	T	-0.515473	0.20754	T	0.0172567476001579	0.00467	T	0.906409	0.67021	D	0.04857597	0.08489	0.067611955	0.14011	0.06464465	0.13736	0.06420602	0.12833	-2.905	0.09193	T	0.06474752917698337	0.02085	0.063	0.01738	B	.;.	.;.	2.131483	0.27137	17.36	0.93772909762678169	0.23726	0.07198	0.13223	N	AEFBHCI	0.077809	0.15685	N	-0.740126023486508	0.14903	0.7463937	-0.651050162122238	0.18190	0.9706369	0.864910583223825	0.25299	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	3.51	1.13	0.19758	-0.011000	0.12659	1.865000	0.29348	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.993000	0.69303	0.2041:0.1665:0.337:0.2924	0.574	0.00655	819	0.41190	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005550	0.000000	0.005450	0.002924	0.000000	0.008621	0.012270	0.000000	0.02632	937.33	36	chr22	50447194	.	G	A	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.198;DP=701;ExcessHet=0;FS=1.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.723;SOR=0.981	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chr22	50454628	50454628	G	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon35:c.C4852A:p.P1618T,SBF1:NM_002972:exon36:c.C4927A:p.P1643T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717549	Charcot-Marie-Tooth_disease_type_4B3|Tip-toe_gait|SBF1-related_disorder|not_provided	MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	0.0437406740935	0.0017	0.000599042	0.0022	0.0007	0.0002	0	0.0055	0.0032	0	0	0.0020634	319	154602	rs202049257	0.0024	0.0024	0.0025	0.0023	0.0027	0.0023	0.0023	0.0027	0.0026	0.0005	0.0003	0	0	0.0061	0.0004	0.0027	0.0018	1.177e-05	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0033	0.0031	0.0005	0	0.0005	0	0	0.0055	0	0.0037	0.0009	0	0.235	0.18000	T	0.615	0.07568	T	.	.	.	.	.	.	0.453146	0.12482	N	0.763371	0.927782	0.36875	D	.	.	.	-2.04	0.85703	D	-1.11	0.31576	N	0.26	0.30347	-0.8382	0.52766	T	0.170	0.51020	T	10	0.0064341426	0.00146	T	0.043741	0.61141	D	0.251	0.56024	.	.	0.497580052145	0.49393	0.4214633360116159	0.42062	.	.	0.586868405342	0.51052	T	0.095584	0.39651	T	-0.338669	0.05481	T	-0.258297	0.48994	T	0.00907645746739165	0.00114	T	0.917108	0.70302	D	0.06418768	0.13594	0.07245518	0.15633	0.09346137	0.21952	0.06196282	0.12048	-4.702	0.33979	T	0.10922276743256756	0.09094	0.068	0.02927	B	.;.	.;.	2.744067	0.35953	20.1	0.92291183683565703	0.21679	0.55375	0.29848	D	AEFBI	0.326873	0.42801	N	-0.216153502128315	0.32470	1.831566	-0.209377640856524	0.31197	1.763386	0.992952702258691	0.33030	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.471000	0.34973	7.387000	0.58489	0.672000	0.70159	0.302000	0.25342	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	17.245	0.86911	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	34	chr22	50454628	.	G	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=714;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.538;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	18	0	1	0
chr22	50505119	50505119	T	C	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon9:c.A1117G:p.S373G,LMF2:NM_033200:exon9:c.A1192G:p.S398G	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00933543332947	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190269483	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.323	0.18959	T	0.007	0.30426	B	0.011	0.33328	B	0.152514	0.17920	N	0.626147	1	0.08975	N	1.39	0.34934	L	1.91	0.23486	T	-1.29	0.32387	N	0.164	0.17278	-1.0297	0.20551	T	0.040	0.17149	T	10	0.09777361	0.17631	T	0.009335	0.24483	T	0.087	0.25287	0.557	0.67547	0.0297737177859	0.01360	0.5726064847305531	0.57188	.	.	0.280826508999	0.07607	T	0.032627	0.22570	T	-0.189815	0.22284	T	-0.510432	0.21270	T	0.024220969980584	0.01173	T	0.49565	0.15376	T	0.030756617	0.02793	0.03341026	0.02231	0.030756617	0.02793	0.03341026	0.02231	-0.815	0.00864	T	.	.	0.059	0.00767	B	.;.	.;.	1.484007	0.19096	14.09	0.86929354995319519	0.16870	0.36047	0.25443	N	AEFBI	0.242708	0.36411	N	-0.705817039651973	0.15857	0.8029181	-0.714192440362203	0.16608	0.8793545	0.999620618505158	0.41093	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	0.881	0.18301	0.538000	0.22869	0.053000	0.14027	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.428000	0.27405	0.4838:0.1347:0.0:0.3814	4.598	0.11732	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1910.33	34	chr22	50505119	.	T	C	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.096;DP=1030;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.9;SOR=0.717	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1289	18	0	1	0
chr22	50521592	50521592	C	G	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon11:c.C983G:p.S328C,NCAPH2:NM_152299:exon11:c.C983G:p.S328C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00931762138245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.995	0.67487	D	0.923	0.65830	D	0.015583	0.28205	N	0.340811	1	0.08975	N	2.56	0.74772	M	.	.	.	-2.73	0.58085	D	0.387	0.43029	-0.9798	0.35048	T	0.179	0.52504	T	9	0.21148857	0.37578	T	0.009318	0.24459	T	0.098	0.28162	0.503	0.59615	0.143184338766	0.13958	0.18066746165930556	0.17985	0.436506209224	0.43739	0.394043803215	0.24237	T	0.519204	0.83154	D	-0.0615836	0.42659	T	-0.326237	0.41887	T	0.9396812915802	0.61135	D	0.868313	0.57032	D	0.18095781	0.39242	0.15429825	0.36219	0.18095781	0.39242	0.15429825	0.36218	-7.15	0.55121	T	.	.	0.090	0.25978	B	.;.;.	.;.;.	4.985831	0.82625	27.8	0.9881136355506035	0.46623	0.52886	0.29239	D	AEFBCI	0.250378	0.37044	N	0.474468878140522	0.65603	4.843416	0.409804835214453	0.62173	4.428596	0.999915866268289	0.45857	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.01	2.81	0.31971	3.446000	0.52692	2.932000	0.35621	0.549000	0.26987	0.684000	0.28476	0.275000	0.24072	0.916000	0.45140	0.367:0.4747:0.1583:0.0	6.716	0.22492	628	0.65206	Condensin-2 complex subunit H2, C-terminal;Condensin-2 complex subunit H2, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	33	chr22	50521592	.	C	G	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=718;ExcessHet=0;FS=5.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-1.12;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	18	0	1	0
chr22	50549274	50549274	G	A	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.G3031A:p.V1011I	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0282156473234	7.7e-05	0.000199681	0.0003	0	0	0	0	7.987e-05	0.0012	0.0018	0.0002329	36	154602	rs375448641	0.0002	0.0002	9.547e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0	0	0	0	0.0002	7.644e-05	0.0002	0.0015	0.0001	0.0001	7.709e-05	0.0001	0.0021	7.085e-05	5.743e-05	0.0011	0.0009	0	0	0	0	0	0	0	0.0001	0	0.0021	0.17	0.22833	T	0.38	0.15988	T	0.047	0.21998	B	0.018	0.18489	B	0.109194	0.19495	U	0.263653	0.999999	0.08975	N	1.365	0.34158	L	-1.15	0.77964	T	-0.53	0.16393	N	0.053	0.02462	-0.8392	0.52700	T	0.300	0.67166	T	10	0.009999335	0.00224	T	0.028216	0.50927	D	0.113	0.31778	.	.	0.50557994651	0.50197	0.3282867954535646	0.32741	.	.	0.32781624794	0.14604	T	0.111329	0.42674	T	-0.510801	0.00497	T	-0.525521	0.19737	T	0.0209076996866797	0.00791	T	0.410359	0.10588	T	0.031081812	0.02884	0.05293607	0.08818	0.031081812	0.02884	0.05293607	0.08818	-4.63	0.32546	T	.	.	0.084	0.09627	B	.;.	.;.	0.927972	0.13033	9.535	0.95145052756597071	0.26270	0.06976	0.13002	N	AEFDGBCIJ	0.062590	0.12042	N	-0.778766022541437	0.13865	0.686161	-0.804183266077133	0.14395	0.751885	0.99998661749399	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.35	-0.428	0.11693	-0.152000	0.10145	0.445000	0.18464	-0.185000	0.09859	0.000000	0.06391	0.009000	0.19889	0.698000	0.34080	0.4906:0.0:0.5094:0.0	8.898	0.34638	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	3114.33	34	chr22	50549274	.	G	A	3114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=969;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.02;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	18	0	1	0
chr22	50579775	50579775	T	C	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon9:c.A983G:p.Q328R	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	134179	not_provided|Megaconial_type_congenital_muscular_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.00535585406914	0.0046	0.00199681	0.0041	0.0006	0.0030	0	0.0005	0.0051	0.0088	0.0061	0.0039974	618	154602	rs141381896	0.0049	0.0049	0.0047	0.0050	0.0088	0.0048	0.0047	0.0069	0.0062	0.0010	0.0031	0.0026	7.557e-05	0.0014	0.0088	0.0053	0.0054	0.0062	0.0033	0.0034	0.0036	0.0031	0.0066	0.0031	0.0030	0.0049	0.0047	0.0008	0	0.0025	0.0026	0.0002	0.0012	0.0204	0.0054	0.0052	0.0066	0.526	0.07116	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.393601	0.04492	N	1.372900	1	0.08975	N	1.3	0.32576	L	0.43	0.56772	T	-0.62	0.18248	N	0.139	0.13769	-1.0399	0.17343	T	0.071	0.28806	T	10	0.0036141276	0.00066	T	0.005356	0.13710	T	0.042	0.11227	.	.	0.293147016451	0.28931	0.21814341777740848	0.21730	.	.	0.189679294825	0.00219	T	0.100072	0.40551	T	-0.63138	0.00094	T	-0.676959	0.07171	T	0.000577618257265074	0.00005	T	0.113289	0.00862	T	0.09625146	0.22669	0.10601321	0.25496	0.13090196	0.30530	0.094691224	0.22425	-5.268	0.39625	T	.	.	0.060	0.00919	B	.	.	0.435510	0.08059	4.781	0.69638809155130055	0.09037	0.10516	0.16001	N	AEFDBI	0.137658	0.25871	N	-1.16186174551854	0.05588	0.2551048	-1.15432138866421	0.06691	0.3229024	0.999999684092136	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	-3.32	0.04663	-0.178000	0.09775	-1.307000	0.05758	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.1536:0.5007:0.3456	8.625	0.33045	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017098	0.020202	0.013587	0.010490	0.050000	0.017241	0.030488	0.011364	0.05263	2925.83	40	chr22	50579775	.	T	C	2925.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.009;DP=954;ExcessHet=0.119;FS=4.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.204;SOR=0.949	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1163	17	0	2	0
chr22	50720291	50720291	G	A	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.G2641A:p.A881T	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	3602436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.274942758258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.124e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.986288	0.24631	N	.	.	.	.	.	.	.	.	.	0.467	0.50327	-0.9201	0.45540	T	0.163	0.49980	T	9	0.35131204	0.51983	T	0.274943	0.90019	D	0.117	0.32689	.	.	.	.	0.24221759595030232	0.24135	.	.	0.883453190327	0.94421	D	0.046604	0.27473	T	.	.	.	.	.	.	.	.	.	0.860814	0.55431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.46097	B	.;.	.;.	4.618845	0.73326	26.0	0.99876862226514573	0.95410	0.97507	0.75198	D	AEFDBI	0.528147	0.54979	D	0.462780114793222	0.64933	4.759219	0.466927598315251	0.65809	4.871214	0.999999807776009	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.952000	0.63320	7.850000	0.70922	0.493000	0.22426	0.999000	0.42656	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.904	0.70349	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	483.36	23	chr22	50720291	.	G	A	483.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.131;DP=401;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0289;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=1.15;SOR=0.42	GT:AD:DP:GQ:PL	0/0:39,0:39:81:0,81,1215	18	0	1	0
chr22	50721549	50721549	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.C3899T:p.P1300L	Phelan-McDermid syndrome, Isolated cases	6	1515	1	0	0	1	0.000329924	.	.	.	1178649	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0139245095983	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	1.94e-05	3	154602	rs753314270	5.209e-05	5.267e-05	5.776e-05	4.626e-05	0.0002	4.233e-05	3.894e-05	7.153e-05	4.904e-05	0	0.0002	0	0	0	0	5.085e-05	5.167e-05	0.0001	5.256e-05	5.253e-05	3.854e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	6.281e-05	4.298e-05	0.0001	0	6.54e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.019	0.59159	D	.	.	.	.	.	.	0.682333	0.10248	N	0.841867	0.999804	0.20292	N	.	.	.	.	.	.	.	.	.	0.382	0.52297	-0.9604	0.39106	T	0.128	0.43605	T	10	0.13220784	0.25163	T	0.013925	0.33681	T	0.070	0.20419	.	.	.	.	0.17380315182072492	0.17300	.	.	0.569733858109	0.48640	T	0.081489	0.36608	T	.	.	.	.	.	.	.	.	.	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.09965	B	.;.	.;.	2.864811	0.37866	20.6	0.98065793749463204	0.37983	0.37742	0.25830	N	AEFDBI	0.143063	0.26567	N	-0.224876710530093	0.32115	1.807776	-0.275335095077902	0.28914	1.615802	0.990459535409249	0.32159	0.67177	0.52595	0	0.588066	0.40923	0	0.61531	0.40942	0	0.711	0.71501	0	.	.	4.7	3.58	0.40133	1.340000	0.33501	2.647000	0.33790	0.599000	0.40250	0.732000	0.28943	0.982000	0.30508	0.997000	0.79791	0.1721:0.8279:0.0:0.0	13.084	0.58543	616	0.66398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	268.33	24	chr22	50721549	.	C	T	268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=672;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.675;SOR=0.223	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	18	0	1	0
chr22	50776706	50776706	G	A	exonic	RABL2B	.	nonsynonymous SNV	RABL2B:NM_001003789:exon4:c.C181T:p.H61Y,RABL2B:NM_001130919:exon4:c.C181T:p.H61Y,RABL2B:NM_001130922:exon4:c.C181T:p.H61Y,RABL2B:NM_001350010:exon4:c.C181T:p.H61Y,RABL2B:NM_001350011:exon4:c.C181T:p.H61Y,RABL2B:NM_001350015:exon4:c.C181T:p.H61Y,RABL2B:NM_007081:exon4:c.C181T:p.H61Y,RABL2B:NM_001130920:exon5:c.C181T:p.H61Y,RABL2B:NM_001130921:exon5:c.C181T:p.H61Y,RABL2B:NM_001130923:exon5:c.C181T:p.H61Y,RABL2B:NM_001350003:exon5:c.C181T:p.H61Y,RABL2B:NM_001350004:exon5:c.C181T:p.H61Y,RABL2B:NM_001350005:exon5:c.C181T:p.H61Y,RABL2B:NM_001350006:exon5:c.C181T:p.H61Y,RABL2B:NM_001350007:exon5:c.C181T:p.H61Y,RABL2B:NM_001350008:exon5:c.C181T:p.H61Y,RABL2B:NM_001350009:exon5:c.C181T:p.H61Y,RABL2B:NM_001350012:exon5:c.C181T:p.H61Y,RABL2B:NM_001350013:exon5:c.C181T:p.H61Y,RABL2B:NM_001350014:exon5:c.C181T:p.H61Y,RABL2B:NM_001350016:exon5:c.C181T:p.H61Y,RABL2B:NM_001350017:exon5:c.C181T:p.H61Y	.	426	1095	1	0	0	1	0.000456413	.	.	.	2240812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.234	0.0179458467898	.	.	0.0003	0	0.0001	0	0	0.0003	0.0014	0.0008	0.0001746	27	154602	rs781937910	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	0	0	0	0	1.875e-05	0	0.0002	0.0001	0.0011	7.228e-05	7.224e-05	6.423e-05	8.071e-05	0.0001	3.971e-05	3.127e-05	7.907e-05	5.992e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.79	0.03834	T	0.249	0.27235	T	0.001	0.11197	B	0.013	0.16460	B	0.000003	0.62929	D	0.140354	0.932263	0.37016	D	0.405	0.12330	N	-1.06	0.76819	T	-0.4	0.22727	N	0.319	0.43803	-0.8763	0.50052	T	0.168	0.50778	T	10	0.052889585	0.05393	T	0.017946	0.39844	T	0.234	0.53644	.	.	0.269682111328	0.26585	0.5519488038107647	0.55120	.	.	0.751580715179	0.74680	T	0.144431	0.48104	T	-0.376796	0.03264	T	-0.405568	0.32737	T	0.0430442970170524	0.04245	T	0.894111	0.63286	D	0.060212266	0.12327	0.054810822	0.09497	0.060212266	0.12327	0.054810822	0.09497	-4.838	0.39124	T	.	.	0.140	0.32275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.679901	0.34960	19.77	0.55949214776347933	0.05449	0.74976	0.36692	D	AEFDI	0.202669	0.32924	N	-0.525102807506435	0.21270	1.127602	-0.404047926223174	0.24878	1.364847	8.67152007688305E-5	0.04703	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	3.23	2.21	0.27042	2.871000	0.48157	7.641000	0.63200	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.2722:0.0:0.7278:0.0	4.574	0.11619	.	.	Small GTP-binding protein domain;.;.;Small GTP-binding protein domain;.;.;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001168	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.008130	0.02632	1656.33	33	chr22	50776706	.	G	A	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=768;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=0.559;QD=14.79;ReadPosRankSum=0.206;SOR=0.786	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1413	18	0	1	0
chrX	2789667	2789667	C	T	exonic	XG	.	nonsynonymous SNV	XG:NM_001141919:exon5:c.C214T:p.R72C,XG:NM_001141920:exon5:c.C214T:p.R72C,XG:NM_175569:exon5:c.C214T:p.R72C	.	444	1075	1	2	0	5	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0229425816329	0.0028	0.0015894	0.0014	0.0068	0.0006	0	0	0.0003	0	0.0016	0.0005239	81	154602	rs147774141	0.0002	0.0003	0.0002	0.0003	0.0075	0.0002	0.0002	0.0066	0.0063	0.0075	0.0002	0	3.609e-05	0	0.0017	1.101e-05	0.0004	0.0008	0.0021	0.0022	0.0023	0.0018	0.0074	0.0019	0.0018	0.0066	0.0063	0.0074	0	0.0003	0	0	0	0	9.4e-05	0.0013	0.0004	0.027	0.46513	D	0.059	0.47581	T	0.356	0.33761	B	0.227	0.38084	B	0.971534	0.07782	U	1.015150	1	0.08975	N	1.245	0.31408	L	1.76	0.25996	T	-3.02	0.62630	D	0.16	0.16725	-0.9987	0.30283	T	0.037	0.16160	T	10	0.0047019124	0.00099	T	0.022943	0.45870	T	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10154422045795686	0.10085	0.183458669708	0.20635	0.284022599459	0.08060	T	0.10985	0.42407	T	-0.682491	0.00046	T	-0.750377	0.03471	T	0.0159813815381822	0.00380	T	0.789521	0.44603	T	0.13525632	0.31397	0.14052792	0.33494	0.13525632	0.31397	0.14052792	0.33493	-10.082	0.74597	D	.	.	0.287	0.51934	B	.;.;.;.	.;.;.;.	2.079392	0.26445	17.12	0.94029277955321378	0.24143	0.02292	0.06597	N	AEFI	.	.	.	.	.	.	.	.	.	0.998301846636807	0.36726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.26	2.26	0.27418	1.389000	0.34060	0.944000	0.22874	0.436000	0.21017	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	7.536	0.26881	1000	0.00083	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002080	0.006803	0.000000	0.004000	0.000000	0.000000	0.004505	0.000000	0.02632	493.33	33	chrX	2789667	.	C	T	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.024;DP=583;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.769;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	18	0	1	0
chrX	3322696	3322696	T	C	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.A2989G:p.T997A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00904254432841	.	.	1.14e-05	0	0	0	0	0	0	9.878e-05	6.5e-06	1	154602	rs772413175	7.284e-06	7.284e-06	5.445e-06	1.1e-05	0.0002	3.13e-06	2.26e-06	3.54e-05	2.356e-05	0	0	0	0	0	0.0002	2.375e-06	0	9.234e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.751	0.04790	T	0.001	0.07471	B	0.002	0.06944	B	0.874117	0.08803	N	0.919392	1	0.08975	N	1.5	0.37844	L	0.0	0.62608	T	-1.58	0.38151	N	0.015	0.00181	-1.0478	0.15016	T	0.072	0.29259	T	10	0.06308755	0.08166	T	0.009043	0.23797	T	0.057	0.16321	0.257	0.19845	0.284539287134	0.28064	0.10216976969845262	0.10146	0.0621019868724	0.06914	0.21798196435	0.01197	T	0.002641	0.02035	T	-0.51333	0.00481	T	-0.824846	0.01357	T	0.0546678640340264	0.06302	T	0.381962	0.09278	T	0.05812858	0.11658	0.096754	0.23003	0.05812858	0.11657	0.096754	0.23002	-4.004	0.23864	T	.	.	0.075	0.05360	B	.	.	-0.034997	0.04048	0.936	0.44317193661689902	0.03398	0.01767	0.05549	N	AEFBI	.	.	.	.	.	.	.	.	.	0.171847158969599	0.17747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.15	-6.02	0.02008	-0.147000	0.10218	-1.505000	0.05288	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1591:0.3171:0.1607:0.3631	1.049	0.01477	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2052.81	100	chrX	3322696	.	T	C	2052.81	.	AC=2;AF=0.053;AN=38;DP=1130;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.75;SOR=1.296	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	18	1	0	0
chrX	3323097	3323097	A	G	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.T2588C:p.M863T	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0145978368337	9.5e-05	0.000264901	0.0005	0	0.0001	0	0	0.0001	0	0.0040	0.0005175	80	154602	rs373025245	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0036	0.0034	3.787e-05	0.0003	0	0	0	0.0019	4.987e-05	0.0002	0.0040	0.0001	0.0002	0.0001	0.0002	0.0034	8.965e-05	7.243e-05	0.0018	0.0013	0	0	0.0002	0	0	0	0	7.525e-05	0.0007	0.0034	0.368	0.11623	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.115839	0.02681	N	2.067570	1	0.08975	N	0	0.06538	N	0.13	0.60973	T	-0.74	0.20791	N	0.013	0.00142	-1.0527	0.13655	T	0.078	0.31012	T	10	0.005004823	0.00108	T	0.014598	0.34823	T	0.047	0.12962	.	.	0.286465849087	0.28247	0.3793392701731815	0.37848	0.0713716190818	0.07990	0.260423004627	0.04940	T	3.12E-4	0.00083	T	-0.746365	0.00019	T	-0.845716	0.01016	T	0.00624238224621952	0.00069	T	0.374863	0.08927	T	0.053816892	0.10237	0.103302434	0.24781	0.053816892	0.10237	0.103302434	0.24781	-1.647	0.02094	T	.	.	0.088	0.11845	B	.	.	-1.542659	0.00270	0.004	0.17313755133539535	0.00500	0.00190	0.01102	N	AEFBI	.	.	.	.	.	.	.	.	.	0.927523827774459	0.26892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63	-7.27	0.01312	-0.513000	0.06389	-2.277000	0.03961	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1284:0.3515:0.4019:0.1183	4.361	0.10637	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1869.33	192	chrX	3323097	.	A	G	1869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=1883;ExcessHet=0;FS=8.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.979;SOR=0.951	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	18	0	1	0
chrX	6029361	6029361	C	T	exonic	NLGN4X	.	nonsynonymous SNV	NLGN4X:NM_001282146:exon3:c.G544A:p.G182S,NLGN4X:NM_020742:exon3:c.G544A:p.G182S,NLGN4X:NM_181332:exon3:c.G544A:p.G182S,NLGN4X:NM_001282145:exon4:c.G544A:p.G182S	Mental retardation, X-linked, Isolated cases, X-linked, Multifactorial	.	.	.	.	.	.	.	.	.	.	2430991	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.169073892004	.	.	0.0001	0	0	0	0	2.111e-05	0	0.0009	0.0001035	16	154602	rs754896196	7.565e-05	7.558e-05	5.037e-05	0.0001	0.0013	6.23e-05	5.729e-05	0.0011	0.0010	0	0	0	9.936e-05	0	0	5.944e-06	8.688e-05	0.0013	3.596e-05	3.483e-05	2.571e-05	5.982e-05	0.0011	1.14e-05	6.66e-06	0.0003	0.0002	0	0	0	0	0.0003	0	0	0	0	0.0011	0.002	0.72154	D	0.047	0.48855	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.315	0.32790	L	-0.18	0.65747	T	-4.63	0.79229	D	0.598	0.62273	-0.3386	0.73884	T	0.381	0.73759	T	9	0.6232454	0.68097	D	0.169074	0.84700	D	0.422	0.73078	0.65	0.78753	0.841812063645	0.84030	0.992424044413459	0.99238	2.1118641095	0.94940	0.846702218056	0.89115	D	0.599152	0.87128	D	-0.227173	0.17025	T	-0.177082	0.56792	T	0.802059054374695	0.46493	D	0.983302	0.94339	D	0.8270972	0.85702	0.6937988	0.81975	0.8270972	0.85703	0.6937988	0.81976	-7.754	0.59382	D	0.5334680930896096	0.60403	0.254	0.53425	B	.;.;.;.;.	.;.;.;.;.	2.987326	0.39869	21.1	0.99810603967559242	0.89442	0.95610	0.65411	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999998036	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.01	4.01	0.45821	6.807000	0.74989	6.303000	0.55417	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:1.0:0.0:0.0	14.643	0.68345	1000	0.00083	Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	5136.81	37	chrX	6029361	.	C	T	5136.81	.	AC=2;AF=0.053;AN=38;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1523	18	1	0	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1176	5637.54	723	chrX	6533750	.	C	T	5637.54	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.19;DP=3635;ExcessHet=0.7564;FS=9.728;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.118;MQ=51.79;MQRankSum=-5.382;QD=3.53;ReadPosRankSum=-3.114;SOR=1.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1279:.	13	0	4	2
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	15349.3	541	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	15349.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.553;DP=3391;ExcessHet=1.3;FS=51.291;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=50.75;MQRankSum=-0.745;QD=16.7;ReadPosRankSum=3.74;SOR=1.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1279:.	14	0	5	0
chrX	6533823	6533823	C	0	exonic	VCX3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	265.16	497	chrX	6533823	.	C	*	265.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.029;DP=4013;ExcessHet=0.607;FS=25.833;InbreedingCoeff=-0.0149;MLEAC=4;MLEAF=0.4;MQ=43.57;MQRankSum=2.18;QD=0.76;ReadPosRankSum=1.56;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:302,0:302:0:.:.:0,0,0:.	3	0	2	14
chrX	6533891	6533891	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G415C:p.E139Q	.	590	905	21	1	5	28	0.0125477	.	.	.	2823779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00179344001198	0.0006	0.000264901	0.0045	0.0009	0.0023	0.0014	0.0029	0.0071	0.0018	0.0007	0.0032988	510	154602	rs200714581	0.0008	0.0020	0.0012	1.23e-05	0.0009	0.0008	0.0008	0.0008	0.0008	0	0.0002	0.0008	6.976e-05	0.0020	0.0007	0.0009	0.0012	9.875e-05	0.0041	0.0057	0.0053	5.056e-05	0.0068	0.0038	0.0037	0.0061	0.0059	0.0009	0.0077	0.0029	0.0022	0.0010	0.0022	0	0.0068	0.0034	0.0012	0.544	0.06713	T	0.438	0.13403	T	0.876	0.48154	P	0.15	0.34161	B	.	.	.	.	1	0.18198	N	0.46	0.12951	N	2.2	0.18570	T	0.18	0.05035	N	0.027	0.00571	-1.0072	0.27789	T	0.011	0.04274	T	8	0.006188631	0.00139	T	0.001793	0.03063	T	0.022	0.04323	.	.	0.0675242888579	0.06100	0.005834718446931377	0.00552	0.264439684571	0.28993	0.460398644209	0.33365	T	8.18E-4	0.00397	T	-0.76023	0.00015	T	-0.900172	0.00501	T	0.0066683077830758	0.00075	T	0.453855	0.12912	T	0.12563546	0.29446	0.07094291	0.15133	0.12563546	0.29446	0.07094291	0.15133	-2.302	0.04566	T	.	.	0.094	0.14614	B	.	.	-0.450745	0.02030	0.183	0.11927049906394777	0.00193	0.00081	0.00551	N	AEFI	.	.	.	.	.	.	.	.	.	2.0318682873288E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.367000	0.07607	-2.172000	0.04107	-1.431000	0.01115	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6668:0.0:0.3332	4.428	0.10939	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.009483	0.050000	0.007722	0.000000	0.000000	0.012658	0.006250	0.006329	0.05263	1974.83	161	chrX	6533891	.	C	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.97;DP=1482;ExcessHet=0.119;FS=26.176;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=39.36;MQRankSum=4.79;QD=7.9;ReadPosRankSum=-1.292;SOR=1.926	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	17	0	2	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	419.59	161	chrX	6533918	.	C	G	419.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.551;DP=1362;ExcessHet=0.119;FS=93.078;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=34.93;MQRankSum=-1.239;QD=4.61;ReadPosRankSum=-2.827;SOR=5.781	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	16	0	2	1
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E	.	543	966	2	0	11	13	0.00103413	.	.	.	215626	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.014630	0.025974	0.005780	0.006135	0.000000	0.024691	0.030864	0.025316	0.02632	1015.34	161	chrX	6533921	.	G	C	1015.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.055;DP=1206;ExcessHet=0;FS=26.281;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=37.55;MQRankSum=0.609;QD=5.03;ReadPosRankSum=-1.419;SOR=2.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	18	0	1	0
chrX	6533978	6533978	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C328G:p.L110V	.	475	1046	1	0	0	1	0.000477783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.000827059541861	.	.	0.0002	0	0	0	0	0.0003	0	0	2.59e-05	4	154602	rs201730048	6.744e-05	0.0003	0.0001	0	0.0007	5.481e-05	5.042e-05	0.0005	0.0004	0.0007	8.658e-05	0	0.0001	2.541e-05	0	4.927e-05	8.816e-05	1.88e-05	0.0015	0.0024	0.0020	0	0.0047	0.0013	0.0012	0.0040	0.0037	0.0047	0	0.0006	0	0	0	0	0.0005	0	0.0005	0.328	0.17410	T	0.565	0.36497	T	0.93	0.51791	P	0.38	0.43842	B	.	.	.	.	1	0.08975	N	1.205	0.30389	L	1.97	0.22067	T	-0.1	0.08495	N	0.05	0.12627	-1.0602	0.11706	T	0.032	0.13767	T	8	0.018476099	0.00402	T	8.27E-4	0.00691	T	0.080	0.23350	0.197	0.10975	0.043077524339	0.03247	0.0027520172981819785	0.00256	0.269621044273	0.29486	0.40237224102	0.25400	T	0.002825	0.02217	T	-0.435289	0.01378	T	-0.863039	0.00811	T	0.0260989832728526	0.01420	T	0.455254	0.17838	T	0.10022819	0.23664	0.1043182	0.25051	0.10022819	0.23664	0.1043182	0.25050	0.873	0.00149	T	.	.	0.058	0.00670	B	.;.;.	.;.;.	-0.515715	0.01818	0.143	0.23495925723658584	0.00996	0.00086	0.00577	N	AEFGI	.	.	.	.	.	.	.	.	.	5.56504007266669E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	-1.17	0.09152	-0.828000	0.04526	-1.677000	0.04934	-3.731000	0.00063	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010027	0.029851	0.007890	0.006579	0.142857	0.000000	0.013333	0.006944	0.02778	450.74	53	chrX	6533978	.	G	C	450.74	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.679;DP=891;ExcessHet=0;FS=8.736;InbreedingCoeff=-0.0428;MLEAC=1;MLEAF=0.028;MQ=34.04;MQRankSum=1.65;QD=5.43;ReadPosRankSum=1.23;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	17	0	1	1
chrX	6534452	6534452	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon2:c.G46A:p.E16K	.	.	.	.	.	.	.	.	.	.	.	2388448	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00132810261481	.	.	0.0007	0	0	0	0	0.0011	0	0	2.59e-05	4	154602	rs746632375	8.275e-05	8.14e-05	0.0001	1.248e-05	0.0009	6.668e-05	6.115e-05	0.0002	6.777e-05	5.689e-05	0	0	0	0	0.0009	9.43e-05	8.099e-05	7.137e-05	0.0001	9.271e-05	0.0001	0	0.0002	5.134e-05	3.612e-05	8.952e-05	6.303e-05	0	0	0	0	0	0	0	0.0002	0	0	0.072	0.34982	T	0.204	0.41074	T	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.92	0.23082	T	-0.53	0.18670	N	0.109	0.09490	-1.0101	0.26886	T	0.065	0.27017	T	8	0.04806927	0.04208	T	0.001328	0.01885	T	0.073	0.21317	.	.	0.043077524339	0.03247	0.0029771461695881412	0.00277	0.300067500273	0.32371	0.541169524193	0.44610	T	0.007641	0.07033	T	-0.465886	0.00903	T	-0.606666	0.12257	T	0.0699243590100992	0.08640	T	0.749125	0.39166	T	0.17093545	0.37697	0.13464552	0.32259	0.17093545	0.37697	0.13464552	0.32258	-0.882	0.00878	T	.	.	0.098	0.34470	B	.;.;.	.;.;.	1.374587	0.17849	13.41	0.97106849071177426	0.32392	0.00279	0.01508	N	AEFI	.	.	.	.	.	.	.	.	.	1.29614668542816E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.492	0.16081	1.722000	0.37665	-2.529000	0.03644	0.205000	0.17943	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	271.62	4	chrX	6534452	.	C	T	271.62	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.13;DP=100;ExcessHet=0;FS=11.553;InbreedingCoeff=-0.0597;MLEAC=1;MLEAF=0.029;MQ=30.3;MQRankSum=2.31;QD=20.89;ReadPosRankSum=-0.146;SOR=1.132	GT:AD:DP:GQ:PL	./.:.:.:.:.	16	0	1	2
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4831.29	471	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	4831.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.358;DP=2369;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.85;MQRankSum=-2.873;QD=10.26;ReadPosRankSum=-0.296;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	18	0	1	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	6010.59	367	chrX	7843933	.	A	*	6010.59	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.64;DP=3732;ExcessHet=1.4774;FS=7.994;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.115;MQ=46.27;MQRankSum=-6.239;QD=6.95;ReadPosRankSum=-3.753;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	11	0	2	6
chrX	7843935	7843935	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G540A:p.M180I	.	440	1017	39	24	2	89	0.0410184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00381956062632	.	.	1.211e-05	0	0	0	0	0	0	0.0001	.	.	.	rs1442009414	1.574e-05	1.807e-05	2.003e-05	6.3e-06	0.0004	9.32e-06	7.54e-06	6.74e-06	2.52e-06	0	3.03e-05	0	0	0	0.0004	7.673e-06	0.0001	4.064e-05	1.357e-05	9.629e-06	1.673e-05	0	2.698e-05	0	0	.	.	0	0	0	0	0	0	0	2.698e-05	0	0	0.537	0.13522	T	0.189	0.28575	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.49	0.15028	T	0.75	0.03090	N	0.06	0.06720	-0.9948	0.31352	T	0.020	0.08453	T	8	0.059325248	0.07112	T	0.00382	0.08930	T	0.016	0.02506	0.238	0.16912	0.0675242888579	0.06100	0.0037184822678514124	0.00347	0.389394466878	0.40179	0.478400975466	0.35836	T	0.005901	0.05345	T	-0.500087	0.00571	T	-0.898467	0.00513	T	0.00677568680755279	0.00076	T	0.550145	0.18957	T	0.15520553	0.35089	0.13471262	0.32274	0.15520553	0.35089	0.13471262	0.32273	-3.325	0.14061	T	.	.	0.204	0.42920	B	.;.	.;.	0.030819	0.04500	1.206	0.38071555930487633	0.02546	0.00628	0.02764	N	AEFI	.	.	.	.	.	.	.	.	.	1.37404227553736E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511000	0.22445	-0.733000	0.07653	0.086000	0.17587	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	1.0E-4:0.0:0.6505:0.3494	4.761	0.12481	1000	0.00083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000807	0.000000	0.001883	0.000000	0.000000	0.000000	0.000000	0.000000	0.03846	3751.21	367	chrX	7843935	.	G	A	3751.21	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.619;DP=3803;ExcessHet=0.4139;FS=34.487;InbreedingCoeff=0.0077;MLEAC=1;MLEAF=0.038;MQ=47.37;MQRankSum=9.02;QD=7.72;ReadPosRankSum=-1.948;SOR=1.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	12	0	1	6
chrX	7843935	7843935	G	0	exonic	VCX	.	.	.	.	1	214	1	0	10	11	0.002331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	3751.21	367	chrX	7843935	.	G	*	3751.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=0.619;DP=3803;ExcessHet=0.4139;FS=34.487;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=47.37;MQRankSum=9.02;QD=7.72;ReadPosRankSum=-1.948;SOR=1.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	11	0	2	6
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M	.	437	977	32	24	52	132	0.0393314	.	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.007212	0.010753	0.001873	0.011628	0.000000	0.012048	0.010582	0.011561	0.03571	912.69	367	chrX	7843963	.	G	A	912.69	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.04;DP=4175;ExcessHet=0.4139;FS=2.597;InbreedingCoeff=0.0411;MLEAC=1;MLEAF=0.036;MQ=47.75;MQRankSum=-4.171;QD=1.81;ReadPosRankSum=0.08;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:494,54:548:51:.:.:0,51,12665:.	13	0	1	5
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	912.69	367	chrX	7843963	.	G	*	912.69	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.04;DP=4175;ExcessHet=0.4139;FS=2.597;InbreedingCoeff=0.0411;MLEAC=3;MLEAF=0.107;MQ=47.75;MQRankSum=-4.171;QD=1.81;ReadPosRankSum=0.08;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:494,0:548:51:.:.:0,1480,14255:.	12	0	2	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	114544.0	389	chrX	7843976	.	C	*	114544.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.75;DP=5332;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=3;MLEAF=0.079;MQ=49.19;MQRankSum=-10.87;QD=22.4;ReadPosRankSum=1.33;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:565:99:.:.:16320,16329,16408:.	16	0	3	0
chrX	8170177	8170177	T	G	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.A275C:p.E92A	.	476	1045	1	0	0	1	0.00047824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0020673228205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774596867	1.104e-05	1.093e-05	1.23e-05	8.431e-06	5.775e-05	5.89e-06	4.65e-06	9.57e-06	3.58e-06	0	5.775e-05	0	0	0	0	9.569e-06	4.383e-05	0	0	9.629e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.17	0.22833	T	0.222	0.25748	T	0.593	0.39147	P	0.486	0.47228	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.24	0.17923	T	-2.91	0.60982	D	0.206	0.22870	-1.0248	0.22148	T	0.054	0.22997	T	8	0.11390269	0.21412	T	0.002067	0.03801	T	0.090	0.26093	0.054	0.00134	0.181679512989	0.17746	0.0015890258956866724	0.00146	0.00905380675831	0.00821	0.443667441607	0.31078	T	0.014825	0.12548	T	-0.428431	0.01515	T	-0.733207	0.04184	T	0.291226610539382	0.24641	T	0.523348	0.17107	T	0.12549442	0.29417	0.14060606	0.33510	0.12549442	0.29417	0.14060606	0.33509	-4.453	0.30269	T	.	.	0.152	0.33687	B	.	.	0.457302	0.08270	5.016	0.59886267992188569	0.06330	0.00292	0.01564	N	AEFI	.	.	.	.	.	.	.	.	.	1.15817037627451E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.046	0.13572	-1.207000	0.03118	-1.639000	0.05008	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.004988	0.011765	0.001890	0.005952	0.000000	0.012195	0.011834	0.000000	0.02632	1466.33	97	chrX	8170177	.	T	G	1466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=930;ExcessHet=0;FS=5.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.86;MQRankSum=1.53;QD=15.94;ReadPosRankSum=-0.301;SOR=1.399	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,105,1575	18	0	1	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3348.83	6	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	3348.83	.	AC=5;AF=0.139;AN=36;BaseQRankSum=2.44;DP=763;ExcessHet=0;FS=1.892;InbreedingCoeff=0.5813;MLEAC=4;MLEAF=0.111;MQ=43.64;MQRankSum=0.774;QD=9.82;ReadPosRankSum=0.111;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:4,0:4:12:.:.:0,12,129:.	15	2	1	1
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	118.47	111	chrX	8466215	.	A	*	118.47	.	AC=4;AF=0.154;AN=26;BaseQRankSum=0.485;DP=1426;ExcessHet=0.0188;FS=4.828;InbreedingCoeff=0.3977;MLEAC=5;MLEAF=0.192;MQ=42.76;MQRankSum=-1.282;QD=0.44;ReadPosRankSum=-0.524;SOR=0.973	GT:AD:DP:GQ:PL	./.:134,0:134:0:0,0,3231	11	2	0	6
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del,FAM9A:NM_174951:exon7:c.623_640del:p.E208_A213del	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1401.29	33	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	1401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=742;ExcessHet=0;FS=6.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.09;SOR=1.336	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chrX	8795281	8795281	C	T	exonic	FAM9A	.	nonsynonymous SNV	FAM9A:NM_001171186:exon7:c.G628A:p.A210T,FAM9A:NM_174951:exon7:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.000525674244889	9.5e-05	.	0.0001	0.0004	0.0004	0	0	3.992e-05	0	0	5.17e-05	8	154602	rs373401877	1.107e-05	1.095e-05	6.852e-06	1.977e-05	0.0001	5.9e-06	4.66e-06	3.909e-05	2.324e-05	0.0001	0.0001	0	0	0	0	4.792e-06	2.202e-05	0	1.832e-05	1.753e-05	2.588e-05	0	6.706e-05	3.04e-06	1.14e-06	1.11e-05	4.15e-06	6.706e-05	0	0	0	0	0	0	0	0	0	0.168	0.23007	T	0.119	0.36101	T	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.19	0.09965	N	0.221	0.24758	-1.0451	0.15796	T	0.049	0.21026	T	7	0.11386427	0.21406	T	5.26E-4	0.00174	T	0.051	0.14325	.	.	0.674760430698	0.67200	0.020510358393099854	0.02004	0.0523993487686	0.05771	.	.	.	0.009305	0.08481	T	-0.288381	0.09799	T	-0.652016	0.08814	T	0.029644242234798	0.01935	T	0.240376	0.03449	T	0.12773098	0.29881	0.1897135	0.42333	0.12773098	0.29881	0.1897135	0.42332	-7.855	0.60078	D	.	.	0.271	0.50581	B	.;.	.;.	0.580841	0.09490	6.271	0.83840180052474245	0.14949	0.00282	0.01521	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.488778160286824	0.20845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.15	0.14178	0.271000	0.18390	-0.496000	0.08830	0.225000	0.18106	0.006000	0.17386	0.000000	0.08366	0.009000	0.08673	.	.	.	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1339.81	33	chrX	8795281	.	C	T	1339.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=6.143;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=60;QD=8.93;SOR=1.21	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	1	0	0
chrX	8795281	8795281	C	0	exonic	FAM9A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1339.81	33	chrX	8795281	.	C	*	1339.81	.	AC=1;AF=0.026;AN=38;DP=765;ExcessHet=0;FS=6.143;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=60;QD=8.93;SOR=1.21	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chrX	9895695	9895695	G	A	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001649:exon4:c.G1787A:p.R596H	.	.	.	.	.	.	.	.	.	.	.	4067374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00398321066303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227898522	9.352e-07	2.732e-06	1.386e-06	0	1.204e-06	0	0	.	.	0	0	0	0	0	0	1.204e-06	0	0	1.77e-05	1.739e-05	2.568e-05	0	6.409e-05	2.94e-06	1.1e-06	1.061e-05	3.97e-06	6.409e-05	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.156	0.31833	T	0.003	0.11197	B	0.0	0.01387	B	0.029562	0.01705	N	1.961470	1	0.08975	N	1.59	0.40313	L	2.48	0.14657	T	-0.91	0.24460	N	0.018	0.00252	-0.9972	0.30701	T	0.022	0.09193	T	10	0.049264878	0.04492	T	0.003983	0.09431	T	0.009	0.00846	0.207	0.12356	0.28722502521	0.28325	0.059004696280798886	0.05841	0.0906683578425	0.10232	0.27709710598	0.07091	T	0.033711	0.23026	T	-0.598416	0.00149	T	-1.09736	0.00029	T	0.0851996541023254	0.10639	T	0.40306	0.10319	T	0.031008845	0.02865	0.044879157	0.05914	0.031008845	0.02864	0.044879157	0.05914	-4.511	0.31032	T	.	.	0.068	0.02639	B	.	.	0.203181	0.05879	2.317	0.92942979200975917	0.22512	0.09931	0.15573	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999718770160246	0.42101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63	-1.9	0.07248	0.273000	0.18425	-1.286000	0.05813	-0.775000	0.03392	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5063:0.0:0.3799:0.1138	6.930	0.23613	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	1821.81	40	chrX	9895695	.	G	A	1821.81	.	AC=2;AF=0.053;AN=38;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.36;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	18	1	0	0
chrX	10136714	10136714	C	T	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon20:c.C2845T:p.R949C	.	439	1079	3	1	0	5	0.0023116	.	.	.	706030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.491	.	0.0029	0.00211921	0.0032	0.0012	0.0013	0	0.0075	0.0044	0	0.0013	0.003053	472	154602	rs56399961	0.0047	0.0047	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0051	0.0005	0.0014	0.0004	9.935e-05	0.0087	0.0017	0.0053	0.0038	0.0022	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0044	0.0042	0.0007	0	0.0011	0.0004	0	0.0086	0.0046	0.0049	0.0013	0.0016	0.013	0.53900	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047041	1	0.81001	D	2.47	0.71715	M	0.32	0.58468	T	-7.28	0.94430	D	0.597	0.61596	0.016	0.82572	D	0.474	0.79800	T	9	0.011451811	0.00250	T	.	.	.	0.491	0.77783	.	.	0.903254300653	0.90229	0.7149916273487567	0.71442	0.733945560766	0.62870	0.762564659119	0.76311	T	0.31203	0.68388	T	0.0204195	0.54438	T	0.26112	0.86147	D	0.0345290282816599	0.02728	T	0.955604	0.83128	D	0.79333913	0.83483	0.79917395	0.88218	0.79333913	0.83484	0.79917395	0.88219	-10.165	0.74893	D	.	.	0.723	0.73892	P	.	.	5.137844	0.86009	28.8	0.99941005935291372	0.99797	0.96049	0.67302	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999998306	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	4.670000	0.61276	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.985	0.92743	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1175.33	54	chrX	10136714	.	C	T	1175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=781;ExcessHet=0;FS=6.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.61;SOR=1.361	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:31:0|1:10469688_G_A:31,0,4622:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:31:0|1:10469688_G_A:31,0,4622:10469688	8	0	10	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1451:.	13	0	5	1
chrX	12721145	12721145	G	T	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368396:exon17:c.G4582T:p.V1528F,FRMPD4:NM_001368397:exon17:c.G4576T:p.V1526F,FRMPD4:NM_001368395:exon19:c.G4687T:p.V1563F	Mental retardation, X-linked 104, X-linked recessive	579	891	35	17	0	69	0.0372771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00768212	.	.	.	.	.	.	.	.	0.0082988	216	26028	rs61739515	0.0139	0.0091	0.0140	0.0138	0.0285	0.0137	0.0136	0.0231	0.0211	0.0012	0.0020	0.0133	0.0003	0.0095	0.0285	0.0142	0.0124	0.0195	0.0089	0.0090	0.0093	0.0082	0.0154	0.0085	0.0083	0.0134	0.0131	0.0015	0	0.0049	0.0110	0	0.0085	0.0278	0.0142	0.0100	0.0154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	133.49	9	chrX	12721145	.	G	T	133.49	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.06;DP=101;ExcessHet=0;FS=0;InbreedingCoeff=0.1151;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.226;SOR=0.804	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,157	17	0	1	1
chrX	13663307	13663307	A	G	exonic	TCEANC	.	nonsynonymous SNV	TCEANC:NM_001297564:exon3:c.A799G:p.K267E,TCEANC:NM_152634:exon4:c.A889G:p.K297E,TCEANC:NM_001297563:exon5:c.A799G:p.K267E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.08987597296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.996	0.68779	D	0.913	0.64886	D	0.001128	0.40136	N	0.161479	0.746526	0.33881	D	3.855	0.95805	H	0.44	0.56609	T	-3.23	0.65056	D	0.31	0.35832	0.037	0.82981	D	0.371	0.73031	T	10	0.5432365	0.63838	D	0.089876	0.75411	D	0.332	0.65424	0.555	0.67271	0.695940529277	0.69331	0.36439688528945874	0.36353	.	.	0.410109519958	0.26472	T	0.236152	0.60357	T	-0.0246998	0.48182	T	-0.273256	0.47491	T	0.983759999275208	0.75304	D	0.877212	0.61653	D	0.9298804	0.94225	0.9066568	0.95450	0.9298804	0.94226	0.9066568	0.95451	-6.25	0.48999	T	.	.	0.257	0.51874	B	.;.	.;.	3.920470	0.57237	23.8	0.99819633904785388	0.90238	0.93833	0.59322	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999998337117584	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.2	0.48814	4.336000	0.59087	7.628000	0.62604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8526:0.1474:0.0:0.0	11.579	0.50134	519	0.74455	Transcription elongation factor S-II, central domain|Transcription elongation factor S-II, central domain|Transcription elongation factor S-II, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2472.81	36	chrX	13663307	.	A	G	2472.81	.	AC=2;AF=0.053;AN=38;DP=955;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.7;SOR=0.693	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	18	1	0	0
chrX	14009058	14009058	T	A	exonic	GEMIN8	.	nonsynonymous SNV	GEMIN8:NM_001042480:exon4:c.A584T:p.E195V,GEMIN8:NM_001042479:exon5:c.A584T:p.E195V,GEMIN8:NM_017856:exon5:c.A584T:p.E195V	.	440	1058	18	6	0	30	0.0139795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	0.0014	0.0246358	0.0131	0.0015	0.0202	0.0987	0	0.0014	0.0142	0.0217	0.011397	1762	154602	rs3747421	0.0058	0.0058	0.0055	0.0063	0.0955	0.0057	0.0056	0.0925	0.0914	0.0009	0.0173	0.0027	0.0955	0.0001	0.0051	0.0013	0.0098	0.0219	0.0059	0.0062	0.0055	0.0066	0.0982	0.0055	0.0053	0.0897	0.0864	0.0018	0	0.0078	0.0038	0.0982	0.0002	0	0.0016	0.0111	0.0225	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	7.97387e-08	0.58761	P	2.605	0.76211	M	0.76	0.49919	T	-4.12	0.75058	D	0.14	0.21188	-0.5633	0.66278	T	0.075	0.30272	T	9	0.0020343065	0.00029	T	.	.	.	0.279	0.59619	.	.	.	.	0.8670984730594361	0.86674	1.15350077271	0.79298	0.400167167187	0.25091	T	0.06697	0.33080	T	-0.315645	0.07260	T	-0.139326	0.60176	T	0.022953874866104	0.01018	T	0.817618	0.47476	T	0.6573314	0.75756	0.53197056	0.72956	0.6573314	0.75757	0.53197056	0.72956	-3.896	0.22243	T	.	.	0.218	0.44834	B	.;.	.;.	3.788647	0.54517	23.5	0.99111258367509258	0.52725	0.98721	0.86006	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999762872	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	5.42	0.78666	5.660000	0.67687	3.319000	0.37529	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	13.703	0.62101	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008984	0.000000	0.001855	0.000000	0.000000	0.000000	0.035398	0.021053	0.05263	3265.83	34	chrX	14009058	.	T	A	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.091;DP=826;ExcessHet=0.119;FS=1.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.86;SOR=0.727	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1874,0,1414	17	0	2	0
chrX	15823131	15823131	-	AGCCGC	exonic	ZRSR2	.	nonframeshift insertion	ZRSR2:NM_005089:exon11:c.1338_1339insAGCCGC:p.R448_R449insSR	.	348	1171	3	0	0	3	0.00127932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	0	0.0002	0	0.0072	0.0007956	123	154602	rs757551420	0.0004	0.0004	0.0003	0.0007	0.0065	0.0004	0.0004	0.0059	0.0057	0	0	0	6.651e-05	0	0.0005	0.0001	0.0004	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0031	0.0025	6.469e-05	0	0	0	0	0	0	0.0002	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1045.29	34	chrX	15823131	.	G	GAGCCGC	1045.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.63;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	18	0	1	0
chrX	19537724	19537724	C	T	exonic	SH3KBP1	.	nonsynonymous SNV	SH3KBP1:NM_001353897:exon11:c.G1106A:p.R369Q,SH3KBP1:NM_001184960:exon12:c.G1235A:p.R412Q,SH3KBP1:NM_001024666:exon16:c.G1838A:p.R613Q,SH3KBP1:NM_001353890:exon16:c.G1820A:p.R607Q,SH3KBP1:NM_001353894:exon16:c.G1718A:p.R573Q,SH3KBP1:NM_001353892:exon17:c.G1895A:p.R632Q,SH3KBP1:NM_001353893:exon17:c.G1847A:p.R616Q,SH3KBP1:NM_001353895:exon17:c.G1775A:p.R592Q,SH3KBP1:NM_031892:exon17:c.G1949A:p.R650Q,SH3KBP1:NM_001353891:exon18:c.G2024A:p.R675Q	.	429	1073	13	7	0	27	0.0124252	.	.	.	1159526	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0044	0.0018543	0.0045	0.0002	0.0028	0	0.0075	0.0059	0.0032	0.0046	0.0044566	689	154602	rs142403021	0.0064	0.0064	0.0063	0.0066	0.0121	0.0063	0.0062	0.0094	0.0085	0.0009	0.0022	0.0009	3.311e-05	0.0066	0.0121	0.0071	0.0061	0.0058	0.0044	0.0046	0.0045	0.0043	0.0070	0.0041	0.0040	0.0064	0.0062	0.0009	0	0.0010	0.0011	0	0.0082	0.0139	0.0070	0.0060	0.0056	0.063	0.36709	T	0.461	0.34716	T	0.997	0.70673	D	0.777	0.57175	P	0.000011	0.62929	D	0.000000	0.997247	0.43737	D	1.14	0.29013	L	1.44	0.32722	T	-0.74	0.22078	N	0.372	0.49055	-1.0876	0.05943	T	0.082	0.32178	T	10	0.0070169866	0.00160	T	.	.	.	0.111	0.31313	.	.	0.737692879946	0.73534	0.12342256587257282	0.12268	1.12885950897	0.78537	0.570747613907	0.48784	T	0.155013	0.49655	T	-0.498161	0.00585	T	-0.482236	0.24209	T	0.0127812576297908	0.00217	T	0.979862	0.95727	D	0.46906	0.65232	0.29398748	0.55428	0.46906	0.65233	0.29398748	0.55427	-8.052	0.62794	D	0.3700495785124903	0.46566	0.151	0.47150	B	.;.;.;.	.;.;.;.	4.279369	0.65178	24.8	0.99939284217989988	0.99734	0.85563	0.44708	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.977373826067521	0.29815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	4.16	0.48138	3.353000	0.51962	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9128:0.0:0.0872	11.857	0.51721	440	0.80101	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.006203	0.013605	0.001855	0.007905	0.000000	0.000000	0.004425	0.015789	0.05263	1855.81	36	chrX	19537724	.	C	T	1855.81	.	AC=2;AF=0.053;AN=38;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.14;SOR=1.009	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	18	1	0	0
chrX	19965287	19965287	G	A	exonic	BCLAF3	.	nonsynonymous SNV	BCLAF3:NM_001367774:exon3:c.C1031T:p.P344L,BCLAF3:NM_198279:exon3:c.C1031T:p.P344L	.	439	1064	12	7	0	26	0.0120706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0024	0.00397351	0.0047	0.0006	0.0004	0	0.0046	0.0036	0.0048	0.0202	0.0045278	700	154602	rs41309605	0.0035	0.0035	0.0032	0.0043	0.0199	0.0034	0.0034	0.0189	0.0185	0.0003	0.0006	0.0002	3.312e-05	0.0032	0.0077	0.0029	0.0038	0.0199	0.0027	0.0027	0.0027	0.0026	0.0164	0.0024	0.0023	0.0124	0.0111	0.0003	0	0.0007	0.0004	0.0003	0.0038	0.0093	0.0040	0.0013	0.0164	0.698	0.04200	T	0.635	0.07105	T	0.025	0.19245	B	0.003	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.52	0.14160	T	-0.95	0.25332	N	0.078	0.05287	-0.9453	0.41764	T	0.015	0.06042	T	8	0.003128618	0.00052	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.016178293913701278	0.01573	0.263161145302	0.28869	.	.	.	0.083584	0.37087	T	-0.82108	0.00005	T	-0.936605	0.00307	T	0.0017359791882067	0.00018	T	0.770523	0.40040	T	0.032626364	0.03325	0.058668874	0.10881	0.032626364	0.03325	0.058668874	0.10881	-3.268	0.13328	T	.	.	0.080	0.07602	B	.;.	.;.	0.915470	0.12898	9.411	0.20265954537931019	0.00721	0.41953	0.26771	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.978670809933628	0.29947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	3.43	0.38372	1.978000	0.40221	4.260000	0.42801	0.654000	0.53741	0.971000	0.34370	0.987000	0.30940	0.812000	0.38265	0.0986:0.1:0.4608:0.3407	3.621	0.07640	67	0.97183	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.008990	0.000000	0.001855	0.000000	0.000000	0.023529	0.026549	0.021053	0.02632	2211.33	33	chrX	19965287	.	G	A	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=821;ExcessHet=0;FS=10.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.177;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	18	0	1	0
chrX	22094022	22094022	G	T	exonic	PHEX	.	nonsynonymous SNV	PHEX:NM_000444:exon7:c.G772T:p.V258L,PHEX:NM_001282754:exon7:c.G772T:p.V258L	Hypophosphatemic rickets, X-linked dominant, X-linked dominant	0	1521	0	1	0	2	0.00065703	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.126780372559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.372	0.16376	T	0.629	0.40170	P	0.305	0.41207	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.03	0.55503	M	-0.72	0.72994	T	-1.31	0.32791	N	0.602	0.62018	-0.6084	0.64470	T	0.282	0.65409	T	10	0.5414906	0.63745	D	0.12678	0.80850	D	0.299	0.61955	0.494	0.58206	0.843223710882	0.84172	0.7597898765985864	0.75926	1.15950770778	0.79429	0.719960093498	0.70040	T	0.435163	0.78200	T	0.0899712	0.63185	D	-0.108539	0.62727	T	0.921125590801239	0.58062	D	0.865513	0.56452	D	0.73795056	0.80175	0.715292	0.83197	0.73795056	0.80177	0.715292	0.83198	-7.178	0.55323	T	0.2793106880625862	0.37435	0.154	0.34160	B	.	.	3.554891	0.49988	22.9	0.9904021891567969	0.51006	0.97158	0.73031	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999995069681	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	5.47	0.80345	6.887000	0.75425	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.406	0.90479	571	0.70397	Peptidase M13, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2375.81	41	chrX	22094022	.	G	T	2375.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.46;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1393	18	1	0	0
chrX	23000153	23000153	G	C	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.G96C:p.W32C	.	428	1092	1	1	0	3	0.00137174	.	.	.	2367891	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.0243229800747	.	.	0.0002	0	0.0001	0	0	0.0003	0	0.0002	0.0001811	28	154602	rs756605669	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0	8.877e-05	5.315e-05	0	0	0.0002	0.0003	0.0004	0.0011	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.176e-05	0.0002	0.0002	3.24e-05	0	0	0	0	0	0	0.0003	0	0	0.077	0.34095	T	0.174	0.30045	T	0.008	0.14655	B	0.009	0.14300	B	0.350943	0.04245	N	1.505790	1	0.08975	N	1.3	0.32576	L	2.1	0.19990	T	-1.94	0.45042	N	0.061	0.03283	-1.0122	0.26228	T	0.045	0.19478	T	10	0.045151383	0.03552	T	0.024323	0.47307	T	0.034	0.08419	0.295	0.25881	0.043077524339	0.03247	0.36709121572427394	0.36623	0.146239069055	0.16512	0.508037209511	0.39948	T	0.036452	0.24107	T	-0.575977	0.00204	T	-0.75087	0.03452	T	0.0160830980324717	0.00386	T	0.363764	0.08432	T	0.18973404	0.40527	0.1594316	0.37183	0.18973404	0.40527	0.1594316	0.37182	-3.594	0.17770	T	.	.	0.258	0.49226	B	.	.	0.375295	0.07474	4.113	0.69147008826613254	0.08880	0.05427	0.11300	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.801667796644747	0.24197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.37	-2.84	0.05408	0.112000	0.15312	-0.131000	0.11618	0.654000	0.53741	0.019000	0.19563	0.000000	0.08366	0.018000	0.11154	0.1116:0.4397:0.2384:0.2104	2.911	0.05384	974	0.05496	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	504.33	33	chrX	23000153	.	G	C	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=673;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-1.224;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chrX	23001675	23001675	T	C	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.T1618C:p.Y540H	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0753923207566	.	.	0.0002	0	0.0001	0	0	0.0003	0	0.0004	0.0002264	35	154602	rs201459158	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0010	0.0009	0	8.525e-05	5.161e-05	0	0	0.0002	0.0003	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.199e-05	0.0002	0.0002	3.251e-05	0	0	0	0	0	0	0.0003	0	0	0.002	0.72154	D	0.001	0.83351	D	0.994	0.66517	D	0.958	0.70027	D	0.000009	0.62929	D	0.112129	0.819716	0.28898	N	1.28	0.32218	L	-0.9	0.74896	T	-4.02	0.74269	D	0.159	0.16586	-0.2413	0.76592	T	0.465	0.79345	T	10	0.4227704	0.56975	T	0.075392	0.72277	D	0.473	0.76619	.	.	0.2419029386	0.23804	0.7790933002182185	0.77860	0.539779440403	0.51195	0.57244759798	0.49024	T	0.452842	0.79301	T	-0.270861	0.11661	T	-0.259257	0.48899	T	0.247933569009857	0.22780	T	0.962554	0.86020	D	0.77599	0.82408	0.6241414	0.78095	0.77599	0.82410	0.6241414	0.78096	-10.064	0.74294	D	.	.	0.425	0.60915	A	.	.	2.634125	0.34263	19.58	0.99638001462402292	0.76449	0.98014	0.78880	D	AEGBI	.	.	.	.	.	.	.	.	.	0.915948586917329	0.26498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	4.32	0.50899	2.331000	0.43552	4.064000	0.41610	0.644000	0.52426	0.263000	0.24978	0.627000	0.25846	0.010000	0.09038	0.0:0.0:0.0:1.0	10.885	0.46168	974	0.05496	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2562.33	33	chrX	23001675	.	T	C	2562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-1.026;SOR=0.659	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	18	0	1	0
chrX	24208272	24208272	-	TGC	exonic	ZFX	.	nonframeshift insertion	ZFX:NM_001178086:exon4:c.308_309insTGC:p.A112_V113insA,ZFX:NM_001178084:exon6:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001178095:exon6:c.995_996insTGC:p.A341_V342insA,ZFX:NM_003410:exon8:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001178085:exon9:c.995_996insTGC:p.A341_V342insA,ZFX:NM_001330327:exon9:c.1112_1113insTGC:p.A380_V381insA	.	1	1504	12	5	0	22	0.00726073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0003	0	0	0.0003	0.0016	0.0031	0.0005045	78	154602	rs750036944	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0040	0.0034	3.797e-05	0.0002	0.0006	0	0	0.0058	6.296e-05	0.0005	0.0032	0.0002	0.0003	0.0002	0.0004	0.0053	0.0002	0.0002	0.0033	0.0027	0	0	0	0.0015	0	0	0.0046	0.0001	0.0006	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007597	0.000000	0.003711	0.019763	0.000000	0.011765	0.004425	0.010526	0.02632	3227.29	34	chrX	24208272	.	A	ATGC	3227.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.774;DP=841;ExcessHet=0;FS=3.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=0.452;SOR=0.476	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	18	0	1	0
chrX	24311569	24311569	G	A	exonic	SUPT20HL2	.	nonsynonymous SNV	SUPT20HL2:NM_001136233:exon1:c.C1825T:p.R609W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	2.827e-05	0	0	0	0	5.181e-05	0	0	1.29e-05	2	154602	rs201136785	2.575e-05	1.967e-05	1.825e-05	3.724e-05	5.039e-05	1.17e-05	7.88e-06	1.355e-05	8.66e-06	0	0	0	0	0	0	3.608e-05	0	5.039e-05	8.843e-06	8.699e-06	1.285e-05	0	1.875e-05	0	0	.	.	0	0	0	0	0	0	0	1.875e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1839.81	35	chrX	24311569	.	G	A	1839.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.28;SOR=1.238	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1466	18	1	0	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0027	0.0032	0.0017	0.0064	0.0026	0.0026	0.0043	0.0041	0.0022	0.0029	0.0002	0.0019	0.0015	0.0064	0.0027	0.0033	0.0049	0.0028	0.0033	0.0029	0.0025	0.0102	0.0025	0.0024	0.0062	0.0049	0.0019	0.0018	0.0036	0	0.0036	0.0010	0.0055	0.0032	0.0009	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	14085.3	83	chrX	24364256	.	T	TTGCTGCTGCTGCTGC	14085.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=1981;ExcessHet=0;FS=0;InbreedingCoeff=0.8721;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=34.1;ReadPosRankSum=-0.352;SOR=0.756	GT:AD:DP:GQ:PL	0/1:2,38:77:99:2713,1236,1408	18	0	1	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGCTGCTGC:p.A543_P544insAAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0004	6.212e-05	0.0023	0.0002	0.0002	0.0018	0.0016	6.425e-05	7.48e-05	0	0.0023	0.0005	0.0006	0.0002	0.0002	7.259e-05	0.0003	0.0004	0.0003	0.0003	0.0014	0.0002	0.0002	0.0005	0.0003	0	0	0	0	0.0014	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	14085.3	83	chrX	24364256	.	T	TTGCTGCTGCTGCTGCTGCTGC	14085.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=1981;ExcessHet=0;FS=0;InbreedingCoeff=0.8721;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=34.1;ReadPosRankSum=-0.352;SOR=0.756	GT:AD:DP:GQ:PL	0/0:2,0:77:99:2713,2770,2935	18	0	1	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:110,0:110:0:.:.:0,0,1327:.	9	4	1	5
chrX	24364312	24364312	-	TCCTGCTCCTGCTCTAGCTGCTGCTG	exonic	SUPT20HL1	.	stopgain	SUPT20HL1:NM_001136234:exon1:c.1630_1631insTCCTGCTCCTGCTCTAGCTGCTGCTG:p.P544Lfs*6	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.943e-05	0.0002	4.363e-05	0	0.0001	1.766e-05	1.4e-05	5.086e-05	3.046e-05	0	0	9.59e-05	0	0	0	2.12e-05	8.789e-05	0.0001	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	1243.64	146	chrX	24364312	.	C	CTCCTGCTCCTGCTCTAGCTGCTGCTG	1243.64	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=1;MLEAF=0.036;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:110,0:110:0:.:.:0,0,1327:.	13	0	1	5
chrX	24503367	24503367	G	A	exonic	PDK3	.	nonsynonymous SNV	PDK3:NM_001142386:exon4:c.G361A:p.D121N,PDK3:NM_005391:exon4:c.G361A:p.D121N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.426006832826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.621	0.09113	T	0.0	0.02946	B	0.004	0.10090	B	0.000002	0.62929	N	0.095949	1	0.81001	D	0.57	0.15267	N	1.61	0.30937	T	-2.35	0.52289	N	0.554	0.57946	-1.0673	0.10017	T	0.051	0.21495	T	10	0.5229167	0.62745	D	0.426007	0.93888	D	0.164	0.42212	0.711	0.84691	0.614043529789	0.61093	.	.	0.97123940246	0.73372	0.749880313873	0.74429	T	0.185281	0.53820	T	-0.243496	0.14907	T	-0.587541	0.13880	T	0.808011174201965	0.46907	D	0.922708	0.71908	D	0.5269711	0.68658	0.6230506	0.78034	0.5269711	0.68659	0.6230506	0.78035	-5.514	0.42920	T	0.11003014822549442	0.09253	0.135	0.29450	B	.;.	.;.	3.592800	0.50711	23.0	0.99553770888561177	0.71335	0.98611	0.84680	D	AEFGI	.	.	.	.	.	.	.	.	.	0.999999748202851	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.73	5.73	0.89730	8.103000	0.89389	11.762000	0.95653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.918	0.92487	533	0.73433	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1862.81	34	chrX	24503367	.	G	A	1862.81	.	AC=2;AF=0.053;AN=38;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=1.234	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	18	1	0	0
chrX	26194489	26194489	T	C	exonic	MAGEB6	.	nonsynonymous SNV	MAGEB6:NM_173523:exon2:c.T643C:p.S215P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.012177943643	.	.	4.57e-05	0	0	0	0	6.261e-05	0	0.0001	3.23e-05	5	154602	rs761115892	2.914e-05	2.914e-05	2.859e-05	3.026e-05	3.311e-05	2.108e-05	1.804e-05	1.71e-05	1.46e-05	0	0	0	3.311e-05	2.467e-05	0	2.612e-05	0.0002	1.847e-05	8.982e-06	8.731e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000188	0.48115	N	0.140599	1	0.08975	N	-1.66	0.00382	N	3.87	0.03597	T	4.84	0.00027	N	0.02	0.00308	-0.9268	0.44602	T	0.002	0.00676	T	10	0.021300733	0.00507	T	0.012178	0.30521	T	0.041	0.10877	0.471	0.54537	0.280181792013	0.27631	0.1773923929301382	0.17658	0.022355780132	0.02249	0.478645414114	0.35870	T	0.012851	0.11224	T	-0.667005	0.00057	T	-1.04559	0.00071	T	0.0321573415523542	0.02331	T	0.0760924	0.00560	T	0.058922958	0.11914	0.09069301	0.21282	0.058922958	0.11914	0.09069301	0.21281	-1.013	0.01014	T	.	.	0.044	0.00040	B	.	.	-0.463377	0.01987	0.174	0.088441991798566155	0.00078	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	1.33575917438624E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	1.29	0.20717	-0.365000	0.07626	-4.363000	0.02196	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6554:0.0:0.3446	4.462	0.11090	690	0.58899	MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4541.81	34	chrX	26194489	.	T	C	4541.81	.	AC=2;AF=0.053;AN=38;DP=976;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.32;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	18	1	0	0
chrX	27462930	27462930	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G367T:p.E123X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.706160	0.93143	33	0.47978293668109429	0.03966	0.98124	0.79803	D	AEFDI	.	.	.	.	.	.	.	.	.	0.379229754163445	0.19945	.	.	.	.	.	.	.	.	.	.	.	.	0.639608	0.41554	4.68	3.82	0.43153	5.957000	0.70042	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	0.057000	0.21958	0.013000	0.09966	0.0:0.8965:0.0:0.1035	9.763	0.39713	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	40.69	.	chrX	27462930	.	C	A	40.69	.	AC=2;AF=0.125;AN=16;DP=14;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=20.35;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	7	1	0	11
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1053	2836.39	37	chrX	27822288	.	G	A	2836.39	.	AC=4;AF=0.105;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=32.98;SOR=1.637	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	17	2	0	0
chrX	27980917	27980917	C	T	exonic	DCAF8L1	.	nonsynonymous SNV	DCAF8L1:NM_001017930:exon1:c.G418A:p.E140K	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	.	.	0.00211921	0.0013	0	0.0001	0	0	4.54e-05	0	0.0107	0.0011966	185	154602	rs375220315	0.0004	0.0004	0.0003	0.0007	0.0080	0.0004	0.0004	0.0074	0.0072	0	2.842e-05	0	0	0	0.0012	7.126e-06	0.0005	0.0080	0.0002	0.0002	0.0002	0.0003	0.0086	0.0001	0.0001	0.0059	0.0050	0	0	0	0	0	0	0	0	0	0.0086	0.004	0.65419	D	0.055	0.46862	T	0.64	0.40395	P	0.298	0.40966	B	0.003086	0.35449	N	0.230847	0.993619	0.41996	D	1.905	0.50856	L	-0.45	0.69896	T	-2.03	0.46673	N	0.101	0.08366	-0.7743	0.56620	T	0.201	0.55695	T	10	0.0051589906	0.00112	T	.	.	.	0.247	0.55478	0.433	0.48336	0.506432333661	0.50281	0.3769711342316987	0.37612	0.367369746277	0.38298	0.504510402679	0.39456	T	0.022299	0.17216	T	-0.380287	0.03103	T	-0.312777	0.43360	T	0.0787938482956672	0.09832	T	0.781822	0.41691	T	0.15345761	0.34783	0.1683341	0.38785	0.15345761	0.34783	0.1683341	0.38784	-5.034	0.37207	T	.	.	0.171	0.37615	B	.	.	1.865464	0.23694	16.12	0.99754358777899477	0.84537	0.81384	0.40798	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0552079110836681	0.15006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.842	0.18064	4.818000	0.62347	1.561000	0.27357	0.328000	0.19510	1.000000	0.71638	0.775000	0.26732	0.063000	0.16184	0.0:0.9999:0.0:1.0E-4	7.276	0.25458	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003446	0.000000	0.001855	0.003953	0.000000	0.011765	0.000000	0.010526	0.02632	2110.33	37	chrX	27980917	.	C	T	2110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=818;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.075;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1372	18	0	1	0
chrX	32545247	32545247	T	A	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon17:c.A2056T:p.I686F,DMD:NM_004006:exon17:c.A2080T:p.I694F,DMD:NM_004009:exon17:c.A2068T:p.I690F,DMD:NM_004010:exon17:c.A1711T:p.I571F	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	656775	not_provided|Duchenne_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.235	0.597768347281	.	.	5.726e-05	0	0.0002	0	0	0	0	0.0003	5.17e-05	8	154602	rs777042810	1.732e-05	1.73e-05	1.089e-05	3.037e-05	0.0003	1.108e-05	8.93e-06	0.0002	0.0002	0	0	0	0	0	0	0	2.172e-05	0.0003	0	8.698e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.031	0.45756	D	0.064	0.58089	T	0.968	0.56581	D	0.655	0.52639	P	0.001988	0.37503	U	0.000000	0.964071	0.38385	D	.	.	.	0.03	0.73205	T	-1.48	0.41239	N	0.634	0.64733	-0.2999	0.74988	T	0.449	0.78407	T	10	0.26250732	0.43720	T	0.597768	0.96448	D	0.235	0.53788	0.27	0.21893	0.909786884629	0.90888	0.26844144637395306	0.26757	0.0842823598617	0.09510	0.782199859619	0.79260	T	0.292953	0.71342	T	-0.121939	0.32807	T	-0.0510223	0.66953	D	0.184718339782575	0.19528	T	0.892511	0.63332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.35372	B	.;.;.;.;.	.;.;.;.;.	3.342546	0.46062	22.2	0.98814937551843651	0.46688	0.91006	0.52677	D	AEFDGIJ	.	.	.	.	.	.	.	.	.	0.499224387478286	0.20928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	3.297000	0.51517	3.496000	0.38747	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.832	0.69784	843	0.36859	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3677.33	208	chrX	32545247	.	T	A	3677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=1905;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.678;SOR=0.562	GT:AD:DP:GQ:PL	0/0:143,0:143:99:0,120,1800	18	0	1	0
chrX	32565806	32565806	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon16:c.A1864G:p.T622A,DMD:NM_004006:exon16:c.A1888G:p.T630A,DMD:NM_004009:exon16:c.A1876G:p.T626A,DMD:NM_004010:exon16:c.A1519G:p.T507A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1518	1	3	0	7	0.00230036	.	.	YES	198591	Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|Duchenne_muscular_dystrophy|Cardiomyopathy|Dystrophin_deficiency|Becker_muscular_dystrophy|not_provided	MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	9.5e-05	0.000529801	0.0015	0	0.0001	0	0.0155	0.0012	0.0063	0.0003	0.0013454	208	154602	rs72468692	0.0009	0.0009	0.0009	0.0010	0.0012	0.0009	0.0009	0.0005	0.0005	3.791e-05	0	0	0	0.0116	0.0012	0.0005	0.0010	0.0005	0.0012	0.0013	0.0009	0.0017	0.0006	0.0010	0.0010	0.0005	0.0004	3.241e-05	0	0	0	0	0.0156	0	0.0006	0.0013	0	1.0	0.07497	T	0.522	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.616160	0.10821	N	0.727763	1	0.08975	N	.	.	.	0.18	0.71779	T	-0.49	0.15578	N	0.032	0.01203	-0.9880	0.33102	T	0.063	0.26029	T	10	0.0073586106	0.00167	T	.	.	.	0.039	0.10176	.	.	0.298199939746	0.29431	0.05511594894284313	0.05452	0.0157027306126	0.01500	0.319444060326	0.13337	T	0.237201	0.61507	T	-0.689657	0.00042	T	-0.788048	0.02219	T	0.00453589918880317	0.00048	T	0.561944	0.19809	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.;.;.;.;.	.;.;.;.;.	1.226184	0.16205	12.39	0.78548438539071197	0.12348	0.49643	0.28480	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0234486860196543	0.13508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-1.42	0.08446	0.501000	0.22286	0.612000	0.20040	-0.163000	0.11536	0.997000	0.40164	0.989000	0.31174	0.994000	0.71098	0.1713:0.589:0.0:0.2397	6.644	0.22118	854	0.34840	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	2348.81	36	chrX	32565806	.	T	C	2348.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.32;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1474	18	1	0	0
chrX	34131608	34131608	C	T	exonic	FAM47A	.	nonsynonymous SNV	FAM47A:NM_203408:exon1:c.G671A:p.R224H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00142311231289	.	.	3.466e-05	0	0	0	0	2.106e-05	0	0.0002	2.59e-05	4	154602	rs753875155	5.107e-05	5.193e-05	4.772e-05	5.786e-05	0.0001	4.033e-05	3.624e-05	4.781e-05	4.017e-05	0	2.851e-05	0	0	0	0	5.827e-05	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923	0.02292	T	0.745	0.04895	T	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.02	0.21119	T	0.97	0.01467	N	0.013	0.00142	-0.9750	0.36125	T	0.021	0.08963	T	8	0.03885123	0.02333	T	0.001423	0.02113	T	0.003	0.00094	0.192	0.10304	0.043077524339	0.03247	0.03844049314294749	0.03790	0.856441069044	0.68770	0.236572429538	0.02490	T	0.002	0.01223	T	-0.797878	0.00008	T	-1.09916	0.00028	T	0.0559304960310872	0.06513	T	0.561144	0.19645	T	0.032341395	0.03241	0.08106489	0.18393	0.032341395	0.03241	0.08106489	0.18393	-5.218	0.39124	T	.	.	0.101	0.21950	B	.;.	.;.	-0.416172	0.02152	0.208	0.49473803813309969	0.04216	0.00102	0.00658	N	AEFBI	.	.	.	.	.	.	.	.	.	8.1752606193978E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	-0.47	0.11525	-1.493000	0.02403	-10.131000	0.00736	-1.701000	0.00757	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	937	0.14592	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3337.33	51	chrX	34131608	.	C	T	3337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.159;DP=1052;ExcessHet=0;FS=0.472;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-0.931;QD=13.96;ReadPosRankSum=-1.122;SOR=0.675	GT:AD:DP:GQ:PL	0/1:112,127:239:99:3351,0,2805	18	0	1	0
chrX	36367063	36367063	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon62:c.G9121A:p.D3041N	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00102392865106	.	.	6.189e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs781922359	1.052e-05	1.002e-05	5.648e-06	2.075e-05	0.0005	5.65e-06	4.13e-06	8.671e-05	3.604e-05	0	3.637e-05	0	0	0	0.0005	1.229e-06	0.0001	4.091e-05	0	8.709e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.792	0.04168	T	.	.	.	.	.	.	0.269927	0.15148	N	0.659595	0.999996	0.08975	N	.	.	.	.	.	.	.	.	.	0.183	0.19861	-0.9601	0.39162	T	0.022	0.09193	T	10	0.07046887	0.10256	T	0.001024	0.01120	T	0.044	0.11924	.	.	0.117191471859	0.11215	0.0482550956339128	0.04768	.	.	.	.	.	.	.	.	-0.575928	0.00204	T	-1.01886	0.00107	T	0.0222924093294805	0.00942	T	0.611339	0.23205	T	0.052621607	0.09841	0.10378437	0.24909	0.052621607	0.09840	0.10378437	0.24909	-3.744	0.19970	T	.	.	0.091	0.13221	B	.	.	-0.236741	0.02908	0.420	0.76630909665889579	0.11546	0.09974	0.15605	N	AEFGI	.	.	.	.	.	.	.	.	.	0.0258382982695738	0.13674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.34	-5.13	0.02665	0.261000	0.18211	-0.420000	0.09290	0.618000	0.50648	0.963000	0.33788	0.000000	0.08366	0.873000	0.41610	0.7575:0.108:0.1345:0.0	11.336	0.48743	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4090.81	44	chrX	36367063	.	G	A	4090.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.3;SOR=0.973	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	18	1	0	0
chrX	37009146	37009146	C	T	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.C736T:p.L246F	.	430	1069	15	8	0	31	0.0142923	.	.	.	2198186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.000885017355951	0.0018	0.0018543	0.0016	0.0006	0.0019	0	0	0.0020	0.0032	0.0020	0.001533	237	154602	rs148119466	0.0015	0.0015	0.0015	0.0017	0.0193	0.0015	0.0015	0.0159	0.0147	0.0010	0.0022	0.0080	0	9.869e-05	0.0193	0.0012	0.0031	0.0029	0.0014	0.0015	0.0014	0.0013	0.0029	0.0012	0.0011	0.0016	0.0013	0.0004	0	0.0023	0.0081	0	0	0.0191	0.0015	0.0054	0.0029	0.018	0.50676	D	0.449	0.12993	T	0.982	0.60036	D	0.844	0.60373	P	.	.	.	.	1	0.08975	N	2.865	0.83145	M	1.95	0.22474	T	-1.35	0.33598	N	0.025	0.00485	-1.0764	0.08063	T	0.061	0.25346	T	9	0.0055805445	0.00123	T	8.85E-4	0.00800	T	0.018	0.03083	.	.	0.132336055621	0.12781	0.030104899753341494	0.02959	0.707521477016	0.61494	0.451006561518	0.32081	T	0.002595	0.01984	T	-0.797379	0.00008	T	-0.924632	0.00356	T	0.0196068533088186	0.00663	T	0.464953	0.13579	T	0.09291908	0.21811	0.07451305	0.16307	0.09291908	0.21811	0.07451305	0.16307	-9.097	0.68318	D	.	.	0.229	0.46179	B	.	.	1.718270	0.21875	15.39	0.98986215283515799	0.49841	0.00124	0.00775	N	AEFBI	.	.	.	.	.	.	.	.	.	1.39867945787913E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.959	0.18747	-0.593000	0.05835	-1.989000	0.04383	0.265000	0.18437	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.628	0.16776	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015172	0.027211	0.014842	0.023715	0.000000	0.011765	0.008850	0.005263	0.02632	3383.33	312	chrX	37009146	.	C	T	3383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=968;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-0.746;QD=10.84;ReadPosRankSum=-0.64;SOR=0.628	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1168	18	0	1	0
chrX	37043663	37043663	C	T	exonic	FTHL18	.	nonsynonymous SNV	FTHL18:NM_001271682:exon1:c.G26A:p.R9H	.	443	1053	15	11	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00900662	.	.	.	.	.	.	.	.	0.0070693	184	26028	rs371118345	0.0118	0.0089	0.0119	0.0117	0.0451	0.0116	0.0115	0.0420	0.0408	0.0008	0.0022	0.0031	0.0003	0.0084	0.0106	0.0115	0.0118	0.0451	0.0073	0.0076	0.0072	0.0073	0.0397	0.0068	0.0067	0.0336	0.0313	0.0015	0	0.0032	0.0030	0.0003	0.0063	0.0183	0.0106	0.0092	0.0397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1365.81	35	chrX	37043663	.	C	T	1365.81	.	AC=2;AF=0.053;AN=38;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.83;QD=33.31;SOR=1.206	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1367	18	1	0	0
chrX	37659638	37659638	C	T	exonic	LANCL3	.	nonsynonymous SNV	LANCL3:NM_001170331:exon3:c.C874T:p.H292Y,LANCL3:NM_198511:exon3:c.C874T:p.H292Y	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.529594351233	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1240174692	5.469e-06	5.463e-06	6.807e-06	2.758e-06	0.0002	1.97e-06	1.29e-06	1.74e-06	1.27e-06	0	0	0	0	0	0.0002	5.943e-06	0	0	9.06e-06	8.71e-06	1.286e-05	0	1.894e-05	0	0	.	.	0	0	0	0	0	0	0	1.894e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052245	1	0.81001	D	3.125	0.87999	M	0.92	0.44461	T	-5.05	0.82700	D	0.911	0.92433	-0.4704	0.69711	T	0.314	0.68415	T	10	0.9359208	0.92922	D	0.529594	0.95568	D	0.372	0.69102	0.703	0.83962	0.712351945345	0.70983	0.8036668987269587	0.80320	1.47514625927	0.86607	0.8225492239	0.85419	D	0.250532	0.62064	T	0.261759	0.79692	D	0.138222	0.79429	D	0.993999006763046	0.85040	D	0.922108	0.71672	D	0.9471615	0.95977	0.90702385	0.95476	0.9471615	0.95977	0.90702385	0.95477	-10.783	0.78940	D	.	.	0.971	0.89603	P	.;.;.	.;.;.	4.253833	0.64587	24.7	0.99784273294159687	0.87043	0.97378	0.74370	D	AEFGI	.	.	.	.	.	.	.	.	.	0.999999978222129	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	5.05	0.67566	6.743000	0.74649	7.191000	0.57773	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.611	0.87956	85	0.96447	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1329.33	35	chrX	37659638	.	C	T	1329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.688;DP=616;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=0.156;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1323:.	18	0	1	0
chrX	38220750	38220752	GCA	-	exonic	SRPX	.	nonframeshift deletion	SRPX:NM_001170750:exon1:c.41_43del:p.L14del,SRPX:NM_001170751:exon1:c.41_43del:p.L14del,SRPX:NM_001170752:exon1:c.41_43del:p.L14del,SRPX:NM_006307:exon1:c.41_43del:p.L14del	.	412	1100	9	0	1	10	0.00407424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0341	.	0.0017	0.0009	0.0011	0	0	0.0019	0	0.0027	3.84e-05	1	26028	rs749344698	0.0002	0.0046	0.0002	6.224e-06	0.0008	0.0001	0.0001	0.0005	0.0004	0.0006	0.0008	0.0003	0.0007	0.0005	0.0003	0.0001	0.0001	0.0001	8.858e-06	4.353e-05	1.285e-05	0	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063797	0.118110	0.053785	0.070833	0.153846	0.026316	0.055838	0.050847	0.02632	46.29	39	chrX	38220749	.	GGCA	G	46.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=758;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.624;SOR=1.473	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1396	18	0	1	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	144.97	97	chrX	43711977	.	G	C	144.97	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.222;DP=946;ExcessHet=0.3672;FS=157.29;InbreedingCoeff=-0.1703;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.46;SOR=8.229	GT:AD:DP:GQ:PL	0/1:71,14:85:62:62,0,2578	12	0	3	4
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.07895	5411.77	34	chrX	44232585	.	C	T	5411.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.37;DP=905;ExcessHet=0;FS=1.499;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.697;SOR=0.8	GT:AD:DP:GQ:PL	0/1:95,87:182:99:2224,0,2104	17	1	1	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E	Retinitis pigmentosa 2, X-linked	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	85.14	33	chrX	46860080	.	C	G	85.14	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.058;DP=678;ExcessHet=0.3672;FS=247.053;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1;SOR=8.121	GT:AD:DP:GQ:PL	0/0:45,0:45:85:0,85,1205	16	0	3	0
chrX	48060096	48060096	A	T	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.T346A:p.L116I,ZNF630:NM_001190255:exon5:c.T304A:p.L102I,ZNF630:NM_001282201:exon5:c.T346A:p.L116I	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0060	0.00291391	0.0098	0.0012	0.0020	0	0.0366	0.0132	0.0091	0.0068	0.0065394	1011	154602	rs193081656	0.0098	0.0097	0.0098	0.0098	0.0105	0.0096	0.0096	0.0104	0.0103	0.0012	0.0016	0.0009	0	0.0262	0.0027	0.0105	0.0073	0.0059	0.0076	0.0079	0.0074	0.0083	0.0104	0.0072	0.0070	0.0097	0.0094	0.0016	0.0059	0.0042	0.0015	0	0.0306	0	0.0104	0.0013	0.0057	0.146	0.37536	T	0.162	0.33000	T	0.049	0.22227	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	3.16	0.07711	T	-0.83	0.31981	N	0.059	0.06720	-0.9435	0.42057	T	0.012	0.04416	T	9	0.0037114024	0.00069	T	.	.	.	0.018	0.03083	.	.	0.104622674875	0.10061	0.027475306951538325	0.02697	0.0433135789395	0.04667	0.354855388403	0.18635	T	0.006821	0.06247	T	-0.758708	0.00015	T	-0.850284	0.00956	T	0.00221283442811808	0.00023	T	0.647535	0.27137	T	0.14399561	0.33070	0.11213653	0.27056	0.14399561	0.33070	0.11213653	0.27055	-5.988	0.46179	T	.	.	0.182	0.39477	B	.;.;.;.;.	.;.;.;.;.	0.494990	0.08640	5.412	0.96621030806562314	0.30481	0.01565	0.05115	N	AEBI	.	.	.	.	.	.	.	.	.	3.93083641777829E-4	0.06820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.96	0.68	0.17146	-0.095000	0.11043	0.376000	0.17729	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.6558:0.0:0.0:0.3442	3.671	0.07809	556	0.71678	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002075	0.000000	0.003724	0.000000	0.000000	0.000000	0.004484	0.000000	0.02632	2077.33	57	chrX	48060096	.	A	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.436;DP=935;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-2.274;SOR=0.575	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,109,1477	18	0	1	0
chrX	48258608	48258608	A	G	exonic	SSX1	.	nonsynonymous SNV	SSX1:NM_005635:exon4:c.A257G:p.N86S,SSX1:NM_001278691:exon5:c.A257G:p.N86S	.	425	1095	2	0	0	2	0.000912409	.	.	.	2204045	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.000993909821349	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1439124998	4.57e-06	4.554e-06	5.447e-06	2.78e-06	0.0002	1.34e-06	9.7e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.385e-06	2.177e-05	1.85e-05	1.801e-05	1.742e-05	2.57e-05	0	3.769e-05	2.99e-06	1.12e-06	6.25e-06	2.34e-06	0	0	0	0	0	0	0	3.769e-05	0	0	0.222	0.18823	T	0.178	0.29639	T	0.956	0.54666	P	0.931	0.66596	D	0.006330	0.01120	N	2.566120	1	0.08975	N	2.425	0.70256	M	3.32	0.06214	T	-2.22	0.49846	N	0.052	0.02366	-1.0762	0.08104	T	0.044	0.18989	T	10	0.13123366	0.24976	T	9.94E-4	0.01050	T	0.025	0.05312	0.415	0.45380	0.0551355673512	0.04727	0.028395790437134773	0.02789	3.40522473235E-4	0.00031	0.294222772121	0.09542	T	0.073488	0.34710	T	-0.689888	0.00042	T	-1.07846	0.00041	T	0.128177326611473	0.15212	T	0.909509	0.67973	D	0.051241066	0.09380	0.06415415	0.12816	0.051241066	0.09380	0.06415415	0.12816	-2.94	0.09548	T	.	.	0.082	0.08705	B	.	.	0.135204	0.05303	1.794	0.90584416082876862	0.19838	0.00785	0.03216	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00280793798191595	0.09719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.98	0.678	0.17136	-0.443000	0.06935	0.189000	0.15722	-0.511000	0.04998	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6496:0.3504:0.0:0.0	4.404	0.10830	399	0.82780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2732.33	35	chrX	48258608	.	A	G	2732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.202;SOR=0.657	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chrX	48802875	48802875	G	A	exonic	HDAC6	.	nonsynonymous SNV	HDAC6:NM_001321226:exon3:c.G98A:p.R33Q,HDAC6:NM_001321227:exon3:c.G98A:p.R33Q,HDAC6:NM_001321228:exon3:c.G98A:p.R33Q,HDAC6:NM_001321229:exon3:c.G98A:p.R33Q,HDAC6:NM_001321230:exon3:c.G98A:p.R33Q,HDAC6:NM_001321231:exon3:c.G98A:p.R33Q,HDAC6:NM_006044:exon3:c.G98A:p.R33Q,HDAC6:NM_001321225:exon4:c.G140A:p.R47Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.398763665917	.	.	1.577e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs782125114	9.136e-07	9.105e-07	0	2.776e-06	1.873e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.873e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.91255	T	0.0	0.92824	D	0.967	0.77913	D	0.289	0.64260	B	0.280182	0.14960	N	0.533455	0.99986	0.50061	D	2.2	0.62015	M	0.18	0.60361	T	-1.29	0.70553	N	0.214	0.23884	-0.7975	0.55292	T	0.231	0.59670	T	10	0.08644399	0.14693	T	0.398764	0.93351	D	0.060	0.17295	0.212	0.13066	0.754695108722	0.75247	0.3301131100440885	0.32924	1.03671017739	0.75637	0.346910119057	0.17466	T	0.319793	0.69104	T	-0.157979	0.27072	T	-0.464703	0.26088	T	0.188087620091507	0.19731	T	0.89941	0.66017	D	0.101270124	0.23920	0.12525614	0.30183	0.101270124	0.23920	0.12525614	0.30182	-4.437	0.30055	T	.	.	0.112	0.24329	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.441126	0.47869	22.5	0.99851776462875697	0.93102	0.41918	0.26763	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996878542041	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	3.32	0.37134	2.214000	0.42493	6.877000	0.56803	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.992000	0.67800	0.0:0.3983:0.6017:0.0	9.866	0.40309	6	0.99319	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2530.81	39	chrX	48802875	.	G	A	2530.81	.	AC=2;AF=0.053;AN=38;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.74;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1220	18	1	0	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	40.52	107	chrX	49039321	.	G	A	40.52	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.307;DP=1069;ExcessHet=0.3672;FS=260.807;InbreedingCoeff=-0.1459;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=-0.514;SOR=8.349	GT:AD:DP:GQ:PL	0/1:102,31:133:10:10,0,1656	12	0	3	4
chrX	49073822	49073822	G	A	exonic	PRAF2	.	nonsynonymous SNV	PRAF2:NM_007213:exon1:c.C166T:p.L56F	.	436	1081	4	1	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0051	0.00211921	0.0041	0.0006	0.0027	0	0.0005	0.0065	0	0.0012	0.003965	613	154602	rs34565429	0.0056	0.0056	0.0056	0.0055	0.0068	0.0055	0.0054	0.0067	0.0066	0.0006	0.0018	0.0004	0	0.0005	0.0022	0.0068	0.0034	0.0017	0.0039	0.0040	0.0042	0.0033	0.0072	0.0036	0.0035	0.0066	0.0064	0.0010	0.0029	0.0018	0.0004	0	0.0003	0	0.0072	0.0039	0.0007	0.276	0.15717	T	1.0	0.01155	T	0.014	0.16867	B	0.019	0.18783	B	0.000676	0.42516	N	0.096199	0.999999	0.20048	N	0.07	0.08264	N	-1.34	0.79944	T	-2.41	0.52938	N	0.069	0.04188	-1.0325	0.19650	T	0.038	0.16591	T	10	0.0042480826	0.00085	T	.	.	.	0.042	0.11227	.	.	0.213499824651	0.20940	0.7333239176180363	0.73277	.	.	.	.	.	0.007076	0.06498	T	-0.486733	0.00677	T	-0.466807	0.25860	T	0.00598326716629102	0.00066	T	0.637336	0.25103	T	0.055472013	0.10785	0.084444396	0.19427	0.055472013	0.10784	0.084444396	0.19427	-4.507	0.30980	T	.	.	0.106	0.31507	B	.;.	.;.	1.712149	0.21803	15.36	0.92726688955401371	0.22225	0.37006	0.25663	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999926389546	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.23	3.37	0.37692	1.620000	0.36586	6.811000	0.56649	-0.113000	0.14837	0.401000	0.26178	1.000000	0.68203	0.949000	0.49496	0.1098:0.0:0.8902:0.0	9.06	0.35591	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001378	0.000000	0.003711	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3263.33	37	chrX	49073822	.	G	A	3263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=909;ExcessHet=0;FS=3.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.607;SOR=0.503	GT:AD:DP:GQ:PL	0/1:119,129:248:99:3277,0,2766	18	0	1	0
chrX	49175792	49175792	G	A	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon9:c.C1525T:p.P509S,PRICKLE3:NM_006150:exon9:c.C1729T:p.P577S	.	427	1094	1	0	0	1	0.00045683	.	.	.	3904380	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0186829554829	.	.	0.0001	0	0.0001	0	0	0.0001	0	9.878e-05	8.41e-05	13	154602	rs201514664	7.65e-05	7.648e-05	5.989e-05	0.0001	0.0007	6.314e-05	5.812e-05	0.0002	0.0001	0	0	0	0	9.871e-05	0.0007	7.008e-05	0.0001	0.0002	7.104e-05	6.957e-05	1.285e-05	0.0002	0.0004	3.449e-05	2.501e-05	6.145e-05	4.296e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	.	.	.	0.892	0.11899	T	0.0	0.02946	B	0.001	0.04355	B	0.034276	0.24791	N	0.201527	1	0.08975	N	1.085	0.27262	L	-0.25	0.67011	T	.	.	.	0.038	0.01203	-0.9752	0.36082	T	0.119	0.41669	T	10	0.04610747	0.03760	T	0.018683	0.40822	T	.	.	0.202	0.11659	0.329020015101	0.32502	0.2165025990211053	0.21566	.	.	0.437148272991	0.30187	T	0.017948	0.14556	T	-0.439572	0.01301	T	-0.609512	0.12024	T	0.0186821399380364	0.00581	T	0.577942	0.20808	T	0.05556857	0.10817	0.11005346	0.26532	0.05556857	0.10817	0.11005346	0.26531	-2.692	0.07236	T	.	.	0.075	0.08368	B	.;.	.;.	0.763502	0.11331	7.953	0.95851359282791804	0.27992	0.45481	0.27548	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999997699	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	2.53	0.29594	1.224000	0.32142	1.463000	0.26696	0.669000	0.69127	0.167000	0.23894	1.000000	0.68203	0.305000	0.24618	0.2478:0.0:0.7522:0.0	6.841	0.23147	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.05263	2403.81	41	chrX	49175792	.	G	A	2403.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.39;SOR=1.073	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	18	1	0	0
chrX	49216478	49216478	C	T	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon27:c.G3140A:p.R1047Q,CACNA1F:NM_001256790:exon27:c.G2978A:p.R993Q,CACNA1F:NM_005183:exon27:c.G3173A:p.R1058Q	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	0	1521	1	0	0	1	0.000328623	.	.	.	951834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.262952847915	9.5e-05	.	9.893e-05	0.0002	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs373254725	4.027e-05	4.007e-05	2.997e-05	6.136e-05	0.0005	3.052e-05	2.718e-05	0.0003	0.0002	0	0	0	0.0002	0	0.0005	1.311e-05	6.532e-05	0.0004	5.349e-05	5.223e-05	6.423e-05	2.912e-05	0.0004	2.319e-05	1.56e-05	4.422e-05	2.634e-05	0.0001	0	0	0	0	0	0	1.878e-05	0	0.0004	0.581	0.06648	T	0.582	0.08448	T	0.094	0.25382	B	0.048	0.24975	B	0.000049	0.53742	D	0.116156	0.870431	0.35553	D	1.07	0.27075	L	-4.9	0.98333	D	-0.73	0.26422	N	0.047	0.01911	0.757	0.93878	D	0.827	0.94189	D	10	0.076431125	0.11940	T	0.262953	0.89581	D	0.433	0.73879	.	.	0.867274606884	0.86598	0.8239294886679948	0.82349	0.258217142244	0.28380	0.377036631107	0.21835	T	0.493403	0.81697	T	-0.10636	0.35370	T	-0.0724815	0.65450	T	0.0550305133305825	0.06362	T	0.843016	0.51993	T	0.25131202	0.48139	0.16480973	0.38159	0.25131202	0.48139	0.16480973	0.38158	-6.831	0.54383	T	0.10571172302205964	0.08413	0.075	0.11220	B	.;.;.	.;.;.	2.921724	0.38785	20.8	0.98432810642077029	0.41420	0.30280	0.24042	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.982058376665338	0.30346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.94	4.94	0.64645	0.240000	0.17822	1.406000	0.26239	0.599000	0.40250	0.001000	0.13787	0.788000	0.26838	0.996000	0.76049	0.1825:0.8175:0.0:0.0	11.285	0.48450	38	0.97995	.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002755	0.006897	0.000000	0.000000	0.000000	0.011765	0.008850	0.000000	0.05263	3324.81	34	chrX	49216478	.	C	T	3324.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.69;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	18	1	0	0
chrX	49248261	49248261	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon10:c.G1163A:p.R388H	Ritscher-Schinzel syndrome 2, X-linked recessive	432	1087	1	2	0	5	0.00229463	.	.	.	190864	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0055	0.00291391	0.0020	0.0182	0.0010	0	0	0.0004	0.0021	0	0.0012807	198	154602	rs113045747	0.0007	0.0007	0.0007	0.0006	0.0127	0.0006	0.0006	0.0116	0.0111	0.0127	0.0010	0	0	2.681e-05	0.0026	0.0003	0.0015	0.0001	0.0036	0.0038	0.0039	0.0026	0.0118	0.0033	0.0032	0.0108	0.0104	0.0118	0	0.0016	0	0	0	0	0.0003	0.0027	0.0008	0.023	0.48186	D	0.025	0.56192	D	0.904	0.49848	P	0.388	0.44086	B	0.001428	0.39044	N	0.246438	0.900852	0.36168	D	2.255	0.64187	M	.	.	.	-3.45	0.67589	D	0.316	0.35620	-0.7863	0.55944	T	0.120	0.41886	T	9	0.007858574	0.00178	T	.	.	.	0.158	0.41098	.	.	0.578734303472	0.57543	0.1560165663341228	0.15522	0.516598376616	0.49541	0.322820276022	0.13848	T	0.731189	0.92478	D	-0.484786	0.00694	T	-0.456814	0.26947	T	0.0144058374460077	0.00290	T	0.834017	0.50309	T	0.18386127	0.39674	0.18820919	0.42098	0.18386127	0.39674	0.18820919	0.42098	-5.195	0.38891	T	0.2594151990648017	0.35041	0.116	0.23535	B	.	.	1.939171	0.24630	16.47	0.99848532876464524	0.92838	0.51148	0.28828	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999084918070483	0.38397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	3.16	0.35406	0.736000	0.25798	1.788000	0.28774	0.614000	0.49286	0.979000	0.35152	0.965000	0.29475	0.915000	0.45038	0.267:0.0:0.733:0.0	8.658	0.33235	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.002080	0.000000	0.001855	0.007937	0.000000	0.000000	0.000000	0.000000	0.02632	1055.33	34	chrX	49248261	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=668;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.169;SOR=0.539	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1222	18	0	1	0
chrX	49248482	49248482	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon11:c.G1288A:p.A430T	Ritscher-Schinzel syndrome 2, X-linked recessive	420	1072	18	12	0	42	0.0192132	.	.	.	101446	Ritscher-Schinzel_syndrome_2|not_specified|not_provided	MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0053	0.00582781	0.0082	0.0008	0.0022	0	0.0221	0.0117	0.0114	0.0042	0.007225	1117	154602	rs144632022	0.0078	0.0078	0.0079	0.0077	0.0247	0.0077	0.0076	0.0209	0.0194	0.0011	0.0036	0.0105	0	0.0186	0.0247	0.0081	0.0080	0.0040	0.0060	0.0061	0.0062	0.0054	0.0082	0.0056	0.0054	0.0076	0.0073	0.0012	0	0.0044	0.0083	0.0003	0.0179	0.0092	0.0082	0.0059	0.0019	0.152	0.24468	T	0.537	0.09863	T	0.992	0.64738	D	0.666	0.52990	P	0.004755	0.33426	N	0.310015	0.553096	0.31318	N	2.25	0.63811	M	.	.	.	-0.65	0.18877	N	0.1	0.08227	-0.7477	0.58055	T	0.129	0.43767	T	9	0.008079827	0.00183	T	.	.	.	0.181	0.45247	.	.	0.704060556882	0.70149	0.04173131593554087	0.04118	0.440805406712	0.44083	0.524738907814	0.42294	T	0.205176	0.56416	T	-0.355553	0.04388	T	-0.276539	0.47159	T	0.0165678910958323	0.00418	T	0.925307	0.72522	D	0.14986268	0.34145	0.18517926	0.41615	0.14986268	0.34144	0.18517926	0.41614	-5.044	0.37314	T	0.2009483441160326	0.26683	0.094	0.14293	B	.	.	3.193679	0.43402	21.7	0.99910940227758416	0.98022	0.94361	0.60920	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99996077201853	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	4.632000	0.61009	7.481000	0.59259	0.672000	0.70159	0.991000	0.37257	1.000000	0.68203	0.836000	0.39433	0.0:0.1609:0.8391:0.0	12.854	0.57257	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.020862	0.013605	0.016760	0.015810	0.071429	0.000000	0.053097	0.010526	0.02632	1109.33	39	chrX	49248482	.	G	A	1109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=761;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.724;SOR=0.601	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	18	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.05882	141.51	23	chrX	49332776	.	A	T	141.51	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.383;DP=239;ExcessHet=0.1259;FS=19.26;InbreedingCoeff=-0.0903;MLEAC=2;MLEAF=0.059;MQ=28.2;MQRankSum=0.196;QD=8.84;ReadPosRankSum=1.38;SOR=0.006	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,653	15	0	2	2
chrX	49333378	49333379	GA	-	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	frameshift deletion	GAGE2D:NM_001098407:exon3:c.176_177del:p.E60Gfs*2,GAGE13:NM_001098412:exon3:c.176_177del:p.E60Gfs*2,GAGE2E:NM_001127200:exon3:c.176_177del:p.E60Gfs*2,GAGE8:NM_012196:exon3:c.176_177del:p.E60Gfs*2	.	569	946	7	0	0	7	0.00368615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311459711	0.0022	0.0049	0.0030	9.085e-06	0.0139	0.0021	0.0021	0.0128	0.0123	0.0002	0.0139	0.0005	0.0010	0.0017	0.0008	0.0020	0.0026	0.0013	0.0025	0.0051	0.0034	0	0.0094	0.0023	0.0022	0.0078	0.0071	0.0003	0	0.0094	0	0.0006	0.0014	0	0.0032	0.0023	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	385.29	33	chrX	49333377	.	GGA	G	385.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=21.59;MQRankSum=0.599;QD=12.84;ReadPosRankSum=-1.938;SOR=0.954	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	18	0	1	0
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V,GAGE2A:NM_001127212:exon3:c.A122T:p.E41V,GAGE2C:NM_001472:exon3:c.A122T:p.E41V	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006565	0.000000	0.002475	0.000000	0.000000	0.016667	0.008000	0.024194	0.05263	3185.95	36	chrX	49591237	.	A	T	3185.95	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.056;DP=1179;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0874;MLEAC=2;MLEAF=0.053;MQ=36.39;MQRankSum=1.12;QD=5.27;ReadPosRankSum=0.932;SOR=0.72	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	17	0	2	0
chrX	49603713	49603713	C	G	exonic	GAGE1	.	nonsynonymous SNV	GAGE1:NM_001040663:exon4:c.C251G:p.T84S	.	412	1099	11	0	0	11	0.00497963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00410800883916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.681e-05	0.0073	0.0001	0	9.096e-05	6.297e-05	5.759e-05	7.39e-05	6.798e-05	3.825e-05	5.77e-05	5.292e-05	0	0	0	9.096e-05	4.467e-05	3.729e-05	0.0001	0.0025	0.0002	0	0.0003	9.037e-05	7.302e-05	0.0002	0.0001	0	0	9.39e-05	0	0	0	0	0.0003	0	0	0.014	0.53172	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.55	0.13795	T	-3.42	0.67241	D	0.237	0.26717	-1.0601	0.11731	T	0.076	0.30522	T	9	0.25439787	0.42819	T	0.004108	0.09838	T	0.030	0.07022	0.535	0.64439	0.292062946507	0.28806	0.0059423115391932044	0.00563	0.466828294112	0.46077	0.421271592379	0.28011	T	.	.	.	-0.362168	0.04009	T	-0.758006	0.03185	T	0.78499710559845	0.45365	D	0.370463	0.08742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34405	B	.;.;.	.;.;.	1.578301	0.20196	14.64	0.95630324722524762	0.27411	0.01065	0.03951	N	AEFI	.	.	.	.	.	.	.	.	.	1.20364043837826E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5	0.593	0.16660	0.236000	0.17745	-1.210000	0.06016	0.459000	0.21562	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.7255:0.0:0.2745	3.521	0.07301	361	0.84870	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1114.33	34	chrX	49603713	.	C	G	1114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.867;DP=967;ExcessHet=0;FS=6.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.96;MQRankSum=-0.903;QD=3.68;ReadPosRankSum=-0.584;SOR=1.099	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	18	0	1	0
chrX	49689423	49689423	T	C	exonic	PAGE1	.	nonsynonymous SNV	PAGE1:NM_003785:exon5:c.A413G:p.E138G	.	438	1017	40	27	0	94	0.0441729	.	.	.	706262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0057	0.00794702	0.0100	0.0011	0.0029	0	0.0073	0.0099	0.0174	0.0319	0.0093595	1447	154602	rs151117508	0.0091	0.0092	0.0086	0.0102	0.0574	0.0089	0.0088	0.0510	0.0486	0.0013	0.0032	0.0136	9.123e-05	0.0084	0.0574	0.0080	0.0095	0.0311	0.0074	0.0080	0.0075	0.0070	0.0277	0.0070	0.0068	0.0219	0.0198	0.0014	0	0.0069	0.0186	0.0003	0.0103	0.0515	0.0095	0.0102	0.0277	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.795	0.57940	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.42	0.15376	T	-1.7	0.40468	N	0.098	0.07949	-1.0567	0.12595	T	0.052	0.22269	T	9	0.004495859	0.00092	T	.	.	.	0.069	0.20116	.	.	.	.	0.03342421481623945	0.03290	0.247465964204	0.27293	0.304119497538	0.11019	T	0.041785	0.25971	T	-0.607123	0.00132	T	-0.622554	0.10987	T	0.0351667141618346	0.02836	T	0.621038	0.23867	T	0.1517187	0.34476	0.17844623	0.40515	0.1517187	0.34476	0.17844623	0.40514	-3.676	0.18965	T	.	.	0.110	0.21277	B	.	.	2.369921	0.30405	18.43	0.993574185376907	0.60862	0.00675	0.02904	N	AEFI	.	.	.	.	.	.	.	.	.	9.47816147302976E-5	0.04910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03	-0.188	0.12612	0.650000	0.24544	-0.051000	0.12545	0.366000	0.20181	0.130000	0.23345	0.000000	0.08366	0.003000	0.05239	0.0:0.3419:0.0:0.6581	2.833	0.05166	162	0.93704	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034965	0.013605	0.024119	0.067194	0.000000	0.047059	0.017699	0.052632	0.05263	1201.81	34	chrX	49689423	.	T	C	1201.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=24.53;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	18	1	0	0
chrX	50310738	50310738	A	C	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.A2569C:p.K857Q	.	425	1077	14	6	0	26	0.0119266	.	.	.	717819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00367320313406	0.0021	0.0015894	0.0023	0.0007	0.0029	0	0	0.0032	0.0069	0.0010	0.0021022	325	154602	rs139478498	0.0017	0.0017	0.0016	0.0018	0.0331	0.0016	0.0016	0.0286	0.0269	0.0015	0.0039	0.0204	0	0.0003	0.0331	0.0010	0.0042	0.0015	0.0021	0.0022	0.0021	0.0021	0.0073	0.0019	0.0018	0.0060	0.0055	0.0005	0	0.0073	0.0174	0	0	0.0280	0.0015	0.0079	0.0011	0.068	0.35726	T	0.027	0.55341	D	0.791	0.44643	P	0.101	0.30765	B	0.000000	0.00162	N	31.512000	1	0.08975	N	1.735	0.44892	L	1.35	0.34648	T	-0.68	0.19509	N	0.032	0.00942	-1.0085	0.27385	T	0.061	0.25635	T	9	0.006121278	0.00138	T	0.003673	0.08464	T	0.065	0.18881	.	.	0.405070198662	0.40122	0.08622780050717618	0.08556	0.544890993943	0.51533	0.285189300776	0.08226	T	0.046123	0.27328	T	-0.780077	0.00011	T	-0.894776	0.00540	T	0.00303931959721433	0.00032	T	0.349165	0.07749	T	0.21051435	0.43351	0.09401993	0.22236	0.21051435	0.43350	0.09401993	0.22236	-7.637	0.58569	D	.	.	0.180	0.39134	B	.;.	.;.	-0.424234	0.02123	0.202	0.84312173577931593	0.15218	0.02573	0.07118	N	AEFBI	.	.	.	.	.	.	.	.	.	3.20592325609695E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.93	-0.816	0.10292	-1.865000	0.01741	1.178000	0.24674	0.747000	0.86732	0.000000	0.06391	0.012000	0.20211	0.022000	0.11911	0.5052:0.0:0.4948:0.0	5.738	0.17347	428	0.80967	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.029228	0.020408	0.022263	0.083004	0.000000	0.035294	0.004425	0.010526	0.02632	2211.33	55	chrX	50310738	.	A	C	2211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.827;DP=799;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.81;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	18	0	1	0
chrX	50311170	50311170	G	C	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033031:exon6:c.G3001C:p.G1001R	.	.	.	.	.	.	.	.	.	.	.	706264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.046	.	.	0.0116556	0.0045	0	0.0003	0.0586	0	6.259e-05	0	9.888e-05	0.0037516	580	154602	rs6614336	0.0017	0.0017	0.0017	0.0016	0.0579	0.0016	0.0016	0.0557	0.0548	0	0.0001	0	0.0579	0	0	9.515e-06	0.0011	0.0002	0.0021	0.0022	0.0021	0.0019	0.0632	0.0018	0.0017	0.0555	0.0525	0	0	0.0001	0	0.0632	0	0	6.785e-05	0	0.0006	0.368	0.11623	T	0.345	0.17750	T	0.994	0.66517	D	0.953	0.69275	D	0.000000	0.00162	N	57.130600	1	0.08975	N	0.345	0.11182	N	2.35	0.16217	T	0.25	0.04456	N	0.032	0.06587	-1.0190	0.24041	T	0.013	0.04985	T	8	0.0030851662	0.00051	T	.	.	.	0.046	0.12618	.	.	0.385232620033	0.38131	0.0537664701916457	0.05318	0.693697309907	0.60719	0.235947728157	0.02437	T	0.016472	0.13610	T	-0.818608	0.00005	T	-0.905393	0.00465	T	0.0450961631627691	0.04619	T	0.461754	0.13398	T	0.16519497	0.36775	0.2548275	0.51155	0.16519497	0.36775	0.2548275	0.51154	-1.25	0.01324	T	.	.	0.122	0.25429	B	.;.	.;.	0.403180	0.07744	4.425	0.92932952589907003	0.22499	0.00182	0.01064	N	AEFBI	.	.	.	.	.	.	.	.	.	2.83245046077673E-4	0.06355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.158	0.14233	-0.962000	0.03951	-0.346000	0.09780	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	.	.	.	428	0.80967	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3379.33	55	chrX	50311170	.	G	C	3379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.71;DP=953;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.99;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	18	0	1	0
chrX	50346733	50346733	A	G	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033670:exon5:c.A424G:p.I142V,CCNB3:NM_033031:exon10:c.A3736G:p.I1246V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00462534875046	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889284693	2.733e-06	2.732e-06	4.084e-06	0	2.376e-06	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.08384	T	0.46	0.12597	T	0.095	0.26349	B	0.122	0.32387	B	0.337645	0.14013	N	0.717108	0.99999	0.08975	N	0.725	0.18768	N	2.82	0.10871	T	-0.25	0.11008	N	0.106	0.09066	-0.9379	0.42947	T	0.019	0.08033	T	9	0.11059928	0.20677	T	0.004625	0.11440	T	0.048	0.13305	0.511	0.60846	0.325139982731	0.32122	0.3259361624968847	0.32506	0.159137384698	0.17961	0.353891730309	0.18493	T	0.020976	0.16419	T	-0.518412	0.00449	T	-0.98244	0.00176	T	0.075951412320137	0.09462	T	0.407159	0.10452	T	0.039897695	0.05595	0.049212784	0.07471	0.039897695	0.05595	0.049212784	0.07471	-3.681	0.19038	T	.	.	0.121	0.25000	B	.;.;.;.	.;.;.;.	0.756034	0.11259	7.886	0.35788432321241032	0.02266	0.57837	0.30482	D	AEFGI	.	.	.	.	.	.	.	.	.	1.05382091034331E-4	0.05123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	2.34	0.28071	2.458000	0.44671	-0.005000	0.13145	-0.101000	0.15936	0.978000	0.35038	0.000000	0.08366	0.006000	0.07323	0.7158:0.0:0.2842:0.0	7.281	0.25486	356	0.85138	Cyclin, N-terminal|Cyclin-like|Cyclin-like;.;Cyclin, N-terminal|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.02632	1680.33	36	chrX	50346733	.	A	G	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.02;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.157;SOR=0.649	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chrX	50376824	50376824	C	T	exonic	DGKK	.	nonsynonymous SNV	DGKK:NM_001013742:exon23:c.G3206A:p.S1069N	.	431	1068	13	10	0	33	0.0152144	.	.	.	729640	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00211921	0.0074	0.0008	0.0013	0	0.0090	0.0118	0.0055	0.0011	0.0067464	1043	154602	rs139988151	0.0066	0.0067	0.0067	0.0065	0.0216	0.0065	0.0065	0.0179	0.0165	0.0011	0.0015	0.0277	3.321e-05	0.0097	0.0216	0.0069	0.0071	0.0012	0.0060	0.0061	0.0062	0.0055	0.0087	0.0056	0.0055	0.0081	0.0078	0.0008	0.0058	0.0022	0.0286	0	0.0107	0.0184	0.0087	0.0059	0.0008	.	.	.	0.312	0.19599	T	0.167	0.28604	B	0.085	0.29395	B	.	.	.	.	.	.	.	2.3	0.65703	M	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.005743742	0.00128	T	.	.	.	.	.	.	.	0.16115917748	0.15686	0.42930924518674113	0.42847	.	.	0.311074793339	0.12069	T	0.017446	0.14230	T	-0.754194	0.00017	T	-0.846729	0.01002	T	.	.	.	0.162684	0.01473	T	0.060853012	0.12535	0.17762087	0.40376	0.060853012	0.12534	0.17762087	0.40375	-4.652	0.32818	T	.	.	0.081	0.08320	B	.	.	0.473818	0.08434	5.191	0.69425561152751158	0.08968	0.04135	0.09617	N	AEFGBI	.	.	.	.	.	.	.	.	.	4.50779805544434E-4	0.07004	.	.	.	.	.	.	.	.	.	.	.	.	0.205366	0.30703	5.49	1.11	0.19640	-0.228000	0.09119	0.189000	0.15722	-0.174000	0.10959	0.000000	0.06391	0.256000	0.23951	0.831000	0.39176	0.5157:0.2268:0.0:0.2575	3.322	0.06638	280	0.88949	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.012405	0.020408	0.018553	0.003953	0.000000	0.023529	0.004425	0.005263	0.02632	1909.33	173	chrX	50376824	.	C	T	1909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.754;DP=809;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.11;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	18	0	1	0
chrX	50607408	50607408	G	A	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon6:c.C3734T:p.S1245L	.	3	1501	13	5	0	23	0.00760331	.	.	.	135758	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0028	0.0455629	0.0198	0.0014	0.0003	0.2134	0.0080	0.0028	0.0244	0.0106	0.0171343	2649	154602	rs12689863	0.0087	0.0087	0.0086	0.0089	0.2003	0.0086	0.0085	0.1961	0.1944	0.0008	0.0002	0	0.2003	0.0073	0.0088	0.0020	0.0171	0.0130	0.0088	0.0092	0.0087	0.0091	0.2059	0.0084	0.0082	0.1934	0.1884	0.0016	0	0.0016	0	0.2059	0.0072	0	0.0021	0.0080	0.0134	0.014	0.55530	D	0.325	0.42614	T	0.448	0.36030	B	0.102	0.30857	B	0.324988	0.14208	N	0.644220	0.999958	0.19072	P	1.1	0.28011	L	2.86	0.15145	T	-0.9	0.25332	N	0.193	0.21188	-1.0102	0.26854	T	0.000	0.00075	T	9	0.0011920631	0.00013	T	.	.	.	0.078	0.22779	.	.	.	.	0.2656513934785834	0.26478	0.229262324409	0.25486	0.416584044695	0.27367	T	0.010154	0.09196	T	-0.682457	0.00046	T	-0.609258	0.12045	T	0.0151797342808891	0.00332	T	0.810419	0.47040	T	0.1263741	0.29601	0.16902532	0.38906	0.10865076	0.25689	0.17445233	0.39841	-3.84	0.21403	T	.	.	0.095	0.15206	B	.;.;.	.;.;.	2.437309	0.31360	18.72	0.9137041917129346	0.20635	0.80443	0.40079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.998965970584086	0.38084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	4.36	0.51643	3.722000	0.54675	5.651000	0.49183	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	11.244	0.48216	799	0.44747	Apx/Shrm Domain 2;Apx/Shrm Domain 2;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011757	0.000000	0.005566	0.023715	0.000000	0.000000	0.004425	0.036842	0.02632	1412.33	36	chrX	50607408	.	G	A	1412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=722;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.944;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1311	18	0	1	0
chrX	50607726	50607726	-	C	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3415dupG:p.E1139Gfs*39	.	103	1386	25	8	0	41	0.0145752	.	.	.	135753	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0009	0.0021	0	0.0017	0.0032	0.0049	0.0003	0.0005763	15	26028	rs587780460	0.0048	0.0056	0.0056	0.0030	0.0160	0.0047	0.0046	0.0129	0.0117	0.0007	0.0032	0.0385	0.0014	0.0025	0.0160	0.0044	0.0072	0.0022	0.0061	0.0058	0.0062	0.0055	0.0073	0.0056	0.0055	0.0067	0.0064	0.0010	0	0.0054	0.0573	0.0010	0.0026	0.0343	0.0073	0.0105	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1481.79	36	chrX	50607726	.	T	TC	1481.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=809;ExcessHet=0.119;FS=3.547;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=3.31;SOR=0.485	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	17	0	2	0
chrX	50607728	50607728	-	CC	exonic	SHROOM4	.	frameshift insertion	SHROOM4:NM_020717:exon6:c.3413_3414insGG:p.E1140Kfs*42	.	119	884	227	240	52	759	0.285657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0008	0.0022	0	0.0026	0.0032	0.0055	0.0002	0.0006531	17	26028	rs143151534	0.0056	0.0057	0.0060	0.0048	0.0188	0.0055	0.0055	0.0152	0.0139	0.0009	0.0036	0.0445	0.0016	0.0028	0.0188	0.0052	0.0083	0.0031	0.0054	0.0055	0.0058	0.0044	0.0065	0.0051	0.0049	0.0059	0.0057	0.0010	0	0.0048	0.0503	0.0009	0.0024	0.0284	0.0065	0.0092	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	14499.4	36	chrX	50607728	.	T	TCC	14499.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.679;DP=857;ExcessHet=0.0125;FS=0.589;InbreedingCoeff=0.4737;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=31.25;ReadPosRankSum=-0.14;SOR=0.647	GT:AD:DP:GQ:PL	0/0:21,0:37:99:582,646,1520	17	0	2	0
chrX	50695789	50695789	C	T	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon2:c.G266A:p.R89K	.	1	1472	31	18	0	67	0.0222517	.	.	.	209089	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	0.0218717520706	0.0014	0.0010596	0.0021	0.0004	0.0014	0	0	0.0019	0.0079	0.0068	0.0019081	295	154602	rs148911180	0.0016	0.0016	0.0015	0.0020	0.0237	0.0016	0.0015	0.0199	0.0185	0.0004	0.0018	0.0103	3.311e-05	7.404e-05	0.0237	0.0010	0.0032	0.0076	0.0012	0.0012	0.0012	0.0011	0.0046	0.0010	0.0010	0.0027	0.0021	0.0003	0	0.0022	0.0106	0.0003	0	0.0095	0.0010	0.0052	0.0046	0.131	0.26629	T	0.481	0.11864	T	1.0	0.90584	D	0.998	0.88582	D	0.024429	0.26263	N	0.266037	0.999927	0.51308	D	0.94	0.23649	L	2.84	0.10674	T	-0.33	0.12472	N	0.127	0.12055	-1.1202	0.02319	T	0.040	0.17277	T	10	0.009545982	0.00215	T	0.021872	0.44695	T	0.254	0.56428	.	.	0.187035705434	0.18338	0.8390109747708314	0.83861	0.416103862279	0.42257	0.640063405037	0.58574	T	0.006684	0.06107	T	-0.54695	0.00304	T	-0.554287	0.16916	T	0.0245678350115657	0.01216	T	0.717928	0.33070	T	0.12738082	0.29809	0.15544306	0.36437	0.17947769	0.39020	0.1804072	0.40837	-1.708	0.02250	T	.	.	0.394	0.59516	A	.;.	.;.	3.269895	0.44751	22.0	0.96192195825031146	0.28994	0.94421	0.61111	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999998138105	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	4.565000	0.60552	5.862000	0.50443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.384	0.74406	832	0.38914	PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.007591	0.000000	0.003711	0.011858	0.000000	0.000000	0.008850	0.021053	0.1053	1853.39	35	chrX	50695789	.	C	T	1853.39	.	AC=4;AF=0.105;AN=38;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=34.97;SOR=1.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	17	2	0	0
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2680.56	83	chrX	51618674	.	G	A	2680.56	.	AC=2;AF=0.056;AN=36;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=2;MLEAF=0.056;MQ=60;QD=30.81;SOR=1.09	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1083	17	1	0	1
chrX	52645516	52645516	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C494T:p.T165I	.	576	944	2	0	0	2	0.0010582	.	.	.	743392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.0015894	0.0013	0	0	0	0	2.213e-05	0	0.0137	0.0012742	197	154602	rs200360993	0.0007	0.0007	0.0005	0.0011	0.0126	0.0006	0.0006	0.0118	0.0115	3.812e-05	0.0001	0	3.318e-05	0	0.0003	2.384e-06	0.0007	0.0126	0.0003	0.0003	0.0002	0.0004	0.0114	0.0002	0.0002	0.0080	0.0068	0	0	0.0001	0	0	0	0	0	0.0007	0.0114	0.016	0.51853	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.755552	0.09665	N	0.876709	1	0.08975	N	1.39	0.34934	L	3.08	0.08460	T	-2.67	0.57110	D	0.109	0.09490	-1.0125	0.26133	T	0.040	0.17362	T	9	0.0044635236	0.00092	T	.	.	.	0.037	0.09474	0.411	0.44723	0.15556083564	0.15200	0.02881544894136963	0.02831	0.0833042759412	0.09392	.	.	.	0.012097	0.10690	T	-0.739551	0.00021	T	-0.824703	0.01360	T	0.0479385093378901	0.05133	T	0.647535	0.25853	T	0.2246787	0.45114	0.15986992	0.37263	0.2246787	0.45114	0.15986992	0.37262	-6.654	0.51463	T	.	.	0.307	0.53518	B	.	.	1.027315	0.14072	10.64	0.9959945065165291	0.74101	0.00395	0.01981	N	AEFI	.	.	.	.	.	.	.	.	.	1.97395819386176E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.541	0.16359	-0.155000	0.10101	-6.416000	0.01404	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.003342	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023952	0.05263	892.81	39	chrX	52645516	.	G	A	892.81	.	AC=2;AF=0.053;AN=38;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36.46;QD=33.07;SOR=1.528	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1372	18	1	0	0
chrX	53077075	53077075	G	C	exonic	GPR173	.	nonsynonymous SNV	GPR173:NM_018969:exon2:c.G454C:p.V152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0074081988025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.346	0.17696	T	0.041	0.21357	B	0.06	0.26717	B	0.000028	0.55875	D	0.069320	1	0.81001	D	1.385	0.34509	L	1.42	0.33189	T	-0.83	0.22727	N	0.145	0.14622	-1.0790	0.07543	T	0.043	0.18493	T	10	0.16943079	0.31550	T	0.007408	0.19657	T	0.145	0.38592	0.551	0.66716	0.8224510869	0.82077	0.924068375058971	0.92383	0.76704590817	0.64561	0.728399157524	0.71273	T	0.03919	0.25102	T	-0.0282635	0.47669	T	-0.278375	0.46971	T	0.626440465450287	0.37471	D	0.933007	0.74900	D	0.37251803	0.58770	0.30431813	0.56460	0.37251803	0.58771	0.30431813	0.56459	-2.317	0.04650	T	.	.	0.216	0.44553	B	.	.	3.682569	0.52423	23.2	0.977164141373697	0.35531	0.96234	0.68153	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999672	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.17	4.17	0.48303	3.344000	0.51892	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.085	0.58551	323	0.86843	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1113.33	35	chrX	53077075	.	G	C	1113.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.372;DP=808;ExcessHet=0;FS=8.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.062;SOR=0.918	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1333	18	0	1	0
chrX	54022333	54022333	A	T	exonic	PHF8	.	nonsynonymous SNV	PHF8:NM_001184896:exon4:c.T327A:p.D109E,PHF8:NM_001184897:exon4:c.T219A:p.D73E,PHF8:NM_001184898:exon4:c.T219A:p.D73E,PHF8:NM_015107:exon4:c.T219A:p.D73E	Mental retardation syndrome, X-linked, Siderius type, X-linked recessive	1	1496	17	8	0	33	0.0109091	.	.	.	508176	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0309951132734	0.0013	0.0015894	0.0022	0.0002	0.0025	0	0	0.0019	0.0079	0.0068	0.002044	316	154602	rs148664730	0.0017	0.0017	0.0015	0.0020	0.0189	0.0016	0.0016	0.0155	0.0143	0.0006	0.0021	0.0028	0	4.935e-05	0.0189	0.0014	0.0021	0.0065	0.0014	0.0015	0.0014	0.0014	0.0052	0.0012	0.0012	0.0032	0.0025	0.0002	0	0.0019	0.0038	0	0	0.0276	0.0019	0.0013	0.0052	0.088	0.32610	T	0.088	0.46182	T	0.001	0.07471	B	0.0	0.01387	B	0.491888	0.12048	N	0.794394	0.993666	0.24335	N	0.255	0.09829	N	2.21	0.23884	T	-1.66	0.44471	N	0.131	0.19325	-1.0419	0.16741	T	0.042	0.18202	T	10	0.0040727854	0.00080	T	0.030995	0.53184	D	0.074	0.21613	0.199	0.11247	0.322865848456	0.31899	0.580946209430498	0.58023	1.37391022726	0.84599	0.502101838589	0.39121	T	0.038782	0.24963	T	-0.711656	0.00031	T	-0.792271	0.02103	T	0.00737353544595738	0.00085	T	0.712229	0.32360	T	0.14701474	0.33627	0.16386506	0.37991	0.17927712	0.38990	0.19029267	0.42424	-3.694	0.19703	T	.	.	0.089	0.19478	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.129206	0.15156	11.63	0.98894565646247645	0.48073	0.23747	0.22175	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.00162234012841231	0.08719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	3.01	0.33872	-0.105000	0.10876	1.732000	0.28335	0.756000	0.94297	0.002000	0.15269	0.059000	0.21998	0.998000	0.85391	0.5629:0.34:0.0971:0.0	5.103	0.14105	17	0.98681	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.016586	0.000000	0.024119	0.015810	0.000000	0.035294	0.008850	0.010526	0.02632	2038.33	33	chrX	54022333	.	A	T	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=836;ExcessHet=0;FS=1.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.178;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1347	18	0	1	0
chrX	54929291	54929291	C	T	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001271183:exon10:c.C1160T:p.T387M,TRO:NM_001271184:exon11:c.C1376T:p.T459M,TRO:NM_001039705:exon12:c.C2567T:p.T856M	.	430	1086	4	2	0	8	0.00366972	.	.	.	2398391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0112520916044	0.0003	.	0.0004	0.0001	0.0001	0.0002	0	0.0006	0	0.0002	0.0003881	60	154602	rs201064205	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0017	0.0013	7.576e-05	0.0004	0.0001	9.935e-05	0	0.0029	0.0004	0.0008	0.0007	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0003	0.0003	0.0001	0	0	0.0004	0	0	0	0.0004	0	0.0011	0.001	0.78490	D	0.013	0.63918	D	0.83	0.46087	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.76	0.11515	T	-1.44	0.36586	N	0.183	0.19861	-0.9781	0.35435	T	0.014	0.05417	T	9	0.038519055	0.02275	T	0.011252	0.28682	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.0741985953379595	0.07356	0.156516380962	0.17663	0.45866343379	0.33127	T	0.11499	0.43324	T	-0.653081	0.00069	T	-0.751416	0.03431	T	0.0163890141993761	0.00407	T	0.556544	0.24942	T	0.034459546	0.03870	0.06891191	0.14451	0.034459546	0.03870	0.06891191	0.14451	-7.34	0.56926	T	.	.	0.116	0.25100	B	.;.;.	.;.;.	0.584370	0.09528	6.305	0.99618289278312355	0.75233	0.06914	0.12939	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00916939067311346	0.11808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.84	1.97	0.25278	-0.454000	0.06845	-0.186000	0.11084	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.591:0.2548:0.1542	3.704	0.07925	203	0.92088	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.004968	0.006803	0.005566	0.000000	0.000000	0.000000	0.013274	0.000000	0.02632	3684.33	33	chrX	54929291	.	C	T	3684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=870;ExcessHet=0;FS=4.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.953;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	18	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/0:557,0:557:99:0,120,1800	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:132,577:709:99:18501,0,1820	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:677,109:786:99:835,0,21328	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:682,94:776:99:.:.:766,0,19843:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:613,74:687:99:.:.:475,0,18435:.	4	0	14	1
chrX	55146210	55146210	A	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T225G:p.D75E,FAM104B:NM_001166700:exon3:c.T225G:p.D75E,FAM104B:NM_001166701:exon3:c.T222G:p.D74E,FAM104B:NM_001166702:exon3:c.T213G:p.D71E,FAM104B:NM_001166703:exon3:c.T219G:p.D73E,FAM104B:NM_138362:exon3:c.T222G:p.D74E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00336546039708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379463690	9.107e-07	9.105e-07	1.361e-06	0	2.84e-05	0	0	.	.	0	2.84e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.264	0.22828	T	0.149	0.27956	B	0.017	0.22546	B	0.171170	0.17370	U	0.505297	1	0.08975	N	0.55	0.14455	N	1.0	0.41392	T	-0.96	0.25551	N	0.112	0.10769	-1.0585	0.12134	T	0.048	0.20553	T	10	0.07826704	0.12454	T	0.003365	0.07512	T	0.009	0.00846	0.252	0.19067	0.0551355673512	0.04727	0.051647314553259514	0.05106	0.0764936979613	0.08586	0.25351858139	0.04148	T	0.014848	0.12562	T	-0.50514	0.00535	T	-0.963375	0.00223	T	0.0227118526902052	0.00990	T	0.514149	0.16548	T	0.077768	0.17670	0.050646685	0.07992	0.077768	0.17670	0.050646685	0.07992	-2.894	0.09084	T	.	.	0.117	0.23883	B	.;.;.;.;.	.;.;.;.;.	0.845771	0.12176	8.724	0.62490180864030964	0.06976	0.01437	0.04829	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.99998673263003	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.67	0.17092	0.237000	0.17763	1.467000	0.26725	-0.273000	0.06669	0.001000	0.13787	0.001000	0.17328	0.000000	0.00833	0.3059:0.0:0.6941:0.0	3.328	0.06660	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	717.33	574	chrX	55146210	.	A	C	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=9617;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=0.287;SOR=0.771	GT:AD:DP:GQ:PL	0/0:634,0:634:99:0,120,1800	18	0	1	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:168,470:638:99:14125,0,3070	0	0	19	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1520.83	426	chrX	55146214	.	G	A	1520.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.07;DP=7834;ExcessHet=0.119;FS=1.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.262;SOR=0.893	GT:AD:DP:GQ:PL	0/0:490,0:490:99:0,120,1800	17	0	2	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2759.58	426	chrX	55146226	.	A	G	2759.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.05;DP=7635;ExcessHet=0.119;FS=3.408;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=1.55;SOR=0.73	GT:AD:DP:GQ:PL	0/0:490,0:490:99:0,120,1800	16	0	2	1
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/0:490,0:490:99:0,120,1800	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,42:487:99:0|1:55146247_G_C:361,0,18217:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,41:474:99:0|1:55146247_G_C:367,0,17824:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:182,272:454:99:7324,0,5005	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:419,38:457:99:0|1:55146247_G_C:334,0,17459:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:120,226:346:99:6273,0,2762	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/0:291,0:291:99:0,120,1800	8	0	9	2
chrX	57592628	57592628	G	C	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G580C:p.A194P	.	435	1083	2	2	0	6	0.00276243	.	.	.	2354554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0113321553905	.	.	0.0002	0	0	0.0002	0	0.0003	0	0.0002	3.84e-05	1	26028	rs755984135	5.928e-05	7.466e-05	7.426e-05	2.838e-05	0.0021	4.75e-05	4.323e-05	0.0009	0.0006	4.142e-05	2.966e-05	0	0	0	0.0021	5.507e-05	8.861e-05	0.0001	0.0002	0.0002	0.0002	2.853e-05	0.0003	0.0001	9.774e-05	0.0002	0.0002	0	0	0.0003	0	0	0	0	0.0003	0.0007	0	0.006	0.61437	D	0.056	0.46632	T	0.001	0.07471	B	0.002	0.06944	B	0.251731	0.15495	N	0.604051	1	0.08975	N	2.075	0.57047	M	2.44	0.15145	T	-0.71	0.20145	N	0.06	0.03175	-1.0190	0.24041	T	0.028	0.12103	T	10	0.050064564	0.04685	T	0.011332	0.28845	T	0.039	0.10176	.	.	0.043077524339	0.03247	0.19807981928436727	0.19724	1.34215045495	0.83876	0.749926567078	0.74435	T	0.009987	0.09054	T	-0.679005	0.00049	T	-0.938821	0.00299	T	0.0231547097963505	0.01041	T	0.535446	0.17943	T	0.15885916	0.35717	0.17926948	0.40650	0.15885916	0.35716	0.17926948	0.40650	-2.761	0.07830	T	.	.	0.074	0.04975	B	.	.	0.524247	0.08927	5.711	0.8199396566217203	0.13964	0.12919	0.17558	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999971469044	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.38	-0.699	0.10709	-0.058000	0.11707	1.371000	0.25957	-0.205000	0.08568	0.000000	0.06391	0.342000	0.24428	0.024000	0.12247	0.1186:0.0:0.5612:0.3201	5.879	0.18091	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001380	0.000000	0.001855	0.003953	0.000000	0.000000	0.000000	0.000000	0.02632	1459.33	38	chrX	57592628	.	G	C	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=1116;ExcessHet=0;FS=4.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.82;MQRankSum=0.466;QD=10.28;ReadPosRankSum=1.17;SOR=0.431	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	18	0	1	0
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R	.	432	1055	35	0	0	35	0.016317	.	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.045039	0.041096	0.044527	0.051383	0.142857	0.047059	0.035714	0.036842	0.02778	208.71	38	chrX	57592664	.	G	A	208.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.14;DP=1007;ExcessHet=0;FS=21.608;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=53.35;MQRankSum=-5.665;QD=2.35;ReadPosRankSum=-2.229;SOR=4.27	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	17	0	1	1
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.022149	0.021277	0.020952	0.005988	0.000000	0.000000	0.043243	0.029940	0.05263	731.81	39	chrX	57594011	.	T	A	731.81	.	AC=2;AF=0.053;AN=38;DP=639;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=30.3;QD=31.82;SOR=2.4	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	1	0	0
chrX	57908143	57908143	T	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.A2278G:p.N760D	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0027	0.00370861	0.0018	0.0061	0.0032	0.0003	0.0002	0.0012	0.0111	0.0008	0.0017788	275	154602	rs143148165	0.0012	0.0012	0.0012	0.0012	0.0059	0.0012	0.0011	0.0051	0.0048	0.0059	0.0029	0.0004	0.0001	0.0001	0.0051	0.0010	0.0027	0.0008	0.0027	0.0029	0.0029	0.0023	0.0057	0.0025	0.0024	0.0049	0.0046	0.0056	0	0.0057	0.0004	0	0	0.0046	0.0011	0.0026	0.0011	0.889	0.02489	T	0.872	0.03296	T	0.0	0.02946	B	0.0	0.01387	B	0.175225	0.17257	N	0.620177	0.999995	0.08975	N	-1.24	0.00794	N	2.95	0.09635	T	0.27	0.04306	N	0.007	0.00055	-0.9428	0.42169	T	0.007	0.02360	T	9	0.0030308068	0.00050	T	.	.	.	0.012	0.01476	.	.	0.424549175451	0.42073	0.025932730755096393	0.02544	0.715879773822	0.61972	0.516119897366	0.41080	T	0.009376	0.08542	T	-0.920288	0.00000	T	-1.09126	0.00033	T	0.000944584059427668	0.00009	T	0.0853915	0.00627	T	0.05783886	0.11560	0.058664422	0.10878	0.05783886	0.11559	0.058664422	0.10877	-3.321	0.14010	T	.	.	0.051	0.00172	B	.	.	0.513141	0.08821	5.598	0.2114993595545577	0.00793	0.02320	0.06650	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999890762008973	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.88	1.03	0.19161	0.339000	0.19617	1.020000	0.23398	-0.217000	0.08171	0.083000	0.22414	0.000000	0.08366	0.927000	0.46353	0.0:0.4807:0.232:0.2874	3.021	0.05708	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011765	0.040816	0.016698	0.003953	0.000000	0.011765	0.000000	0.000000	0.05263	3872.81	33	chrX	57908143	.	T	C	3872.81	.	AC=2;AF=0.053;AN=38;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.98;QD=32.27;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1355	18	1	0	0
chrX	64190538	64190538	C	T	exonic	AMER1	.	nonsynonymous SNV	AMER1:NM_152424:exon2:c.G2749A:p.E917K	Osteopathia striata with cranial sclerosis, X-linked dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0105392893199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.553e-06	4.553e-06	4.084e-06	5.503e-06	5.938e-06	1.33e-06	9.7e-07	1.74e-06	1.26e-06	0	0	0	0	0	0	5.938e-06	0	0	1.783e-05	1.741e-05	2.57e-05	0	6.479e-05	2.96e-06	1.11e-06	1.073e-05	4.01e-06	6.479e-05	0	0	0	0	0	0	0	0	0	0.35	0.12305	T	0.448	0.13030	T	0.079	0.24468	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.01	0.41058	T	-0.25	0.11008	N	0.11	0.09631	-1.0655	0.10432	T	0.059	0.24871	T	8	0.067577094	0.09436	T	0.010539	0.27195	T	0.084	0.24469	0.12	0.02719	0.2338531098	0.23012	0.061479874473164976	0.06087	0.0393796365201	0.04198	0.40162807703	0.25295	T	0.13486	0.46634	T	-0.24968	0.14138	T	-0.596425	0.13113	T	0.115055332052577	0.13939	T	0.70423	0.31438	T	0.07951948	0.18172	0.13200729	0.31687	0.07951948	0.18171	0.13200729	0.31686	-4.759	0.34109	T	.	.	0.162	0.35849	B	.;.	.;.	1.691703	0.21554	15.25	0.9719177267870186	0.32771	0.62412	0.31774	D	AEFBI	.	.	.	.	.	.	.	.	.	0.9997527814991	0.42595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	4.79	0.60909	1.447000	0.34712	4.814000	0.45064	0.599000	0.40250	0.208000	0.24400	1.000000	0.68203	0.985000	0.61073	0.0:0.8005:0.0:0.1995	6.548	0.21615	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3613.81	36	chrX	64190538	.	C	T	3613.81	.	AC=2;AF=0.053;AN=38;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.16;SOR=0.979	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	18	1	0	0
chrX	66193612	66193612	A	G	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_014799:exon7:c.A542G:p.E181G,HEPH:NM_001130860:exon8:c.A1352G:p.E451G,HEPH:NM_001282141:exon8:c.A1352G:p.E451G,HEPH:NM_001367232:exon8:c.A1352G:p.E451G,HEPH:NM_001367233:exon8:c.A1352G:p.E451G,HEPH:NM_001367234:exon8:c.A1352G:p.E451G,HEPH:NM_001367236:exon8:c.A1352G:p.E451G,HEPH:NM_001367238:exon8:c.A1352G:p.E451G,HEPH:NM_001367239:exon8:c.A1352G:p.E451G,HEPH:NM_001367240:exon8:c.A1352G:p.E451G,HEPH:NM_001367241:exon8:c.A1352G:p.E451G,HEPH:NM_001367243:exon8:c.A1352G:p.E451G,HEPH:NM_138737:exon8:c.A1505G:p.E502G,HEPH:NM_001367242:exon10:c.A542G:p.E181G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.568696356278	9.5e-05	.	6.136e-05	0	0	0	0	8.96e-05	0	0.0001	3.88e-05	6	154602	rs370005245	3.712e-05	3.643e-05	2.596e-05	6.073e-05	0.0007	2.797e-05	2.463e-05	0.0002	0.0001	0	2.986e-05	0	0	0	0.0007	2.17e-05	0.0001	0.0003	3.571e-05	3.479e-05	5.138e-05	0	0.0004	1.134e-05	6.62e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.642e-05	0	0.0004	0.236	0.31532	T	0.316	0.28669	T	0.608	0.39540	P	0.261	0.39516	B	0.004773	0.33407	N	0.321794	0.507746	0.31673	N	1.23	0.30720	L	-5.25	0.98917	D	-1.76	0.41618	N	0.322	0.36254	1.145	0.99941	D	0.896	0.96565	D	10	0.336998	0.50829	T	0.568696	0.96091	D	0.492	0.77847	.	.	0.757472733516	0.75526	0.7311849867741608	0.73063	0.100879226984	0.11398	0.36607414484	0.20267	T	0.148885	0.71606	T	-0.0525077	0.44066	T	-0.0183653	0.69136	D	0.082492507994175	0.10303	T	0.757524	0.40040	T	0.14310601	0.32905	0.29635203	0.55667	0.14310601	0.32905	0.29635203	0.55666	-4.989	0.36720	T	.	.	0.080	0.14477	B	.;.;.;.;.;.	.;.;.;.;.;.	2.523362	0.32609	19.09	0.99134256262208509	0.53356	0.95494	0.64944	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.998939071020953	0.38009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	4.166000	0.57992	11.020000	0.84946	0.740000	0.86194	0.906000	0.31575	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	13.236	0.59397	719	0.55657	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	447.81	36	chrX	66193612	.	A	G	447.81	.	AC=2;AF=0.053;AN=38;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.99;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	18	1	0	0
chrX	66605117	66605117	A	T	exonic	EDA2R	.	nonsynonymous SNV	EDA2R:NM_001242310:exon2:c.T197A:p.V66D,EDA2R:NM_001199687:exon3:c.T197A:p.V66D,EDA2R:NM_001324201:exon3:c.T181A:p.S61T,EDA2R:NM_001324206:exon3:c.T197A:p.V66D,EDA2R:NM_021783:exon3:c.T197A:p.V66D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.217742393709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.007	0.69154	D	0.834	0.77913	P	0.787	0.75477	P	0.171800	0.17353	N	0.458110	0.99999	0.81001	D	2.075	0.57047	M	-2.77	0.90904	D	-3.63	0.70920	D	0.376	0.48504	0.307	0.87674	D	0.752	0.91536	D	10	0.6016788	0.66948	D	0.217742	0.87623	D	0.628	0.85666	0.513	0.61153	0.992581333496	0.99249	0.4705804984029318	0.46977	.	.	0.558829367161	0.47103	T	0.599307	0.87135	D	0.134669	0.67813	D	-0.0443335	0.67408	D	0.948701368185298	0.62953	D	0.90421	0.67676	D	0.6820225	0.77079	0.6078765	0.77198	0.6820225	0.77080	0.6078765	0.77199	-10.369	0.76091	D	.	.	0.659	0.73284	P	.;.;.;.	.;.;.;.	4.130639	0.61814	24.4	0.98269518952595203	0.39750	0.91755	0.54194	D	AEFBI	.	.	.	.	.	.	.	.	.	0.98789725464663	0.31366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9	3.9	0.44240	6.780000	0.74837	8.891000	0.78356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	9.826	0.40082	458	0.78890	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 27, N-terminal;.;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 27, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1750.81	36	chrX	66605117	.	A	T	1750.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.67;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1300	18	1	0	0
chrX	67546320	67546320	C	T	exonic	AR	.	nonsynonymous SNV	AR:NM_000044:exon1:c.C1174T:p.P392S,AR:NM_001348061:exon1:c.C1174T:p.P392S,AR:NM_001348063:exon1:c.C1174T:p.P392S,AR:NM_001348064:exon1:c.C1174T:p.P392S	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	5	1467	34	16	0	66	0.022	.	.	YES	213671	AR-related_disorder|not_specified|Androgen_resistance_syndrome|Kennedy_disease|Hypospadias_1,_X-linked|not_provided|Partial_androgen_insensitivity_syndrome	.|MedGen:CN169374|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440|MedGen:C3661900|MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.766	.	.	0.00741722	0.0080	0.0004	0.0017	0.0004	0	0.0041	0.0128	0.0318	0.0042561	658	154602	rs201934623	0.0033	0.0034	0.0029	0.0041	0.0248	0.0032	0.0032	0.0237	0.0232	0.0002	0.0016	0.0023	3.388e-05	0.0003	0.0096	0.0024	0.0034	0.0248	0.0023	0.0024	0.0020	0.0029	0.0278	0.0021	0.0020	0.0227	0.0209	0.0003	0	0.0029	0.0026	0.0003	0.0002	0.0092	0.0024	0.0046	0.0278	0.023	0.48186	D	0.11	0.40267	T	.	.	.	.	.	.	0.003281	0.35154	N	0.178051	0.894798	0.36033	D	.	.	.	-3.89	0.95984	D	-2.2	0.58085	N	0.071	0.27673	0.648	0.92516	D	0.829	0.94260	D	10	0.0062516034	0.00141	T	.	.	.	0.766	0.92087	.	.	0.9820403104	0.98184	0.6266393693549259	0.62596	0.487470984321	0.47571	0.760729134083	0.76037	T	0.028737	0.24619	T	-0.00920381	0.50376	T	0.232927	0.84812	D	0.017087029842915	0.00455	T	0.876112	0.58915	D	0.09093155	0.21293	0.17065041	0.39189	0.104712844	0.24756	0.14456044	0.34317	-3.087	0.15286	T	0.13172630257173745	0.13980	0.167	0.40065	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920947	0.24395	16.38	0.99829277438465058	0.91112	0.73706	0.36052	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999991502785384	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	3.3	0.36912	1.641000	0.36812	2.143000	0.30857	0.585000	0.30472	0.999000	0.42656	1.000000	0.68203	0.901000	0.43729	0.0:0.8107:0.0:0.1893	8.722	0.33611	563	0.71062	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.006267	0.000000	0.003711	0.007937	0.000000	0.000000	0.009050	0.015789	0.05263	1465.81	65	chrX	67546320	.	C	T	1465.81	.	AC=2;AF=0.053;AN=38;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.87;SOR=1.085	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	18	1	0	0
chrX	67546515	67546529	GGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348061:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348063:exon1:c.1369_1383del:p.G469_G473del,AR:NM_001348064:exon1:c.1369_1383del:p.G469_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	5	110	2	1	108	112	0.0178571	.	.	.	430882	not_provided|Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0052	0	0	0	0.0009	0	0.0019	0.0003458	9	26028	rs768867084	0.0078	0.0078	0.0080	0.0073	0.0544	0.0076	0.0075	0.0511	0.0498	0.0422	0.0148	0.0028	0.0544	0.0030	0.0117	0.0051	0.0094	0.0065	0.0090	0.0089	0.0090	0.0094	0.0244	0.0085	0.0083	0.0226	0.0220	0.0244	0	0.0058	0.0027	0.0098	0.0017	0.0230	0.0027	0.0186	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	6234.88	65	chrX	67546514	.	TGGCGGCGGCGGCGGC	T	6234.88	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.021;DP=643;ExcessHet=0.145;FS=2.229;InbreedingCoeff=0.1788;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=30.71;ReadPosRankSum=0.289;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:16:99:.:.:341,359,582:.	16	1	0	2
chrX	67546517	67546517	C	0	exonic	AR	.	.	.	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	170	1174	107	66	5	244	0.092385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	216.15	58	chrX	67546517	.	C	*	216.15	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=620;ExcessHet=0.1688;FS=2.79;InbreedingCoeff=0.1387;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.423;SOR=1.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:48:.:.:0,48,720:.	12	1	3	3
chrX	67546529	67546529	C	0	exonic	AR	.	.	.	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	74	1397	32	16	3	67	0.0223933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1143.01	53	chrX	67546529	.	C	*	1143.01	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.006;DP=615;ExcessHet=0;FS=5.7;InbreedingCoeff=0.4867;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=1.15;SOR=1.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:72:.:.:0,72,1080:.	17	1	0	1
chrX	69957088	69957088	G	A	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon2:c.G458A:p.R153H,EDA:NM_001005612:exon2:c.G458A:p.R153H,EDA:NM_001399:exon2:c.G458A:p.R153H	Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive;Tooth agenesis, selective, X-linked 1, X-linked dominant	3	1482	20	17	0	54	0.0178926	.	.	YES	689535	Hypohidrotic_X-linked_ectodermal_dysplasia|not_provided	MONDO:MONDO:0010585,MedGen:C0162359,OMIM:305100,Orphanet:181,Orphanet:238468|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	.	0.0012	0.00741722	0.0031	0	0.0008	0.0002	0	0.0022	0.0034	0.0166	0.00315	487	154602	rs140642493	0.0023	0.0023	0.0021	0.0028	0.0147	0.0022	0.0022	0.0138	0.0135	0.0002	0.0004	0.0088	0.0002	0.0004	0.0099	0.0016	0.0030	0.0147	0.0015	0.0015	0.0014	0.0017	0.0183	0.0013	0.0012	0.0143	0.0128	0.0002	0.0015	0.0003	0.0072	0.0006	0.0002	0.0046	0.0015	0.0007	0.0183	0.275	0.15770	T	0.173	0.30241	T	0.0	0.02946	B	0.001	0.04355	B	0.821062	0.09178	N	0.924022	0.994938	0.23410	N	0.205	0.09354	N	-0.67	0.92057	T	-0.16	0.17003	N	0.087	0.06454	-0.8272	0.53480	T	0.518	0.81951	D	10	0.005271256	0.00115	T	.	.	.	0.246	0.55340	.	.	0.866956307199	0.86566	0.6767630153420616	0.67615	0.96505907527	0.73146	0.261357486248	0.05054	T	0.386253	0.74746	T	-0.487023	0.00675	T	-0.460675	0.26526	T	0.0145842664323862	0.00299	T	0.80172	0.44782	T	0.1535102	0.34792	0.14223276	0.33844	0.1783368	0.38847	0.13442135	0.32209	-4.449	0.30441	T	0.14235047450396582	0.16091	0.062	0.22024	B	.;.;.;.;.	.;.;.;.;.	0.573432	0.09421	6.199	0.87504351889101417	0.17275	0.10421	0.15933	N	AEFI	.	.	.	.	.	.	.	.	.	0.0237221591358734	0.13528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.97	-4.47	0.03278	-0.327000	0.07998	-1.031000	0.06547	-1.373000	0.01168	0.814000	0.29906	0.000000	0.08366	0.926000	0.46234	0.768:0.0:0.232:0.0	13.526	0.61051	162	0.93704	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.008299	0.000000	0.007435	0.011858	0.000000	0.000000	0.008850	0.015789	0.02632	657.33	34	chrX	69957088	.	G	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.904;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.016;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	18	0	1	0
chrX	70352640	70352640	C	T	exonic	KIF4A	.	nonsynonymous SNV	KIF4A:NM_012310:exon14:c.C1472T:p.A491V	.	11	1492	15	4	0	23	0.00764882	.	.	.	706302	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0008	0.0225166	0.0088	0.0001	0.0003	0.0874	0.0057	0.0017	0.0147	0.0066	0.0077877	1204	154602	rs2297871	0.0050	0.0050	0.0049	0.0052	0.1020	0.0049	0.0048	0.0990	0.0977	0.0003	0.0003	0.0044	0.1020	0.0064	0.0012	0.0015	0.0076	0.0074	0.0051	0.0052	0.0049	0.0055	0.0924	0.0047	0.0046	0.0842	0.0810	0.0002	0.0073	0.0058	0.0023	0.0924	0.0076	0	0.0016	0.0092	0.0070	0.362	0.11844	T	0.278	0.21812	T	0.02	0.18235	B	0.003	0.08700	B	0.123171	0.18928	N	0.480088	1	0.08975	P	1.555	0.39373	L	-0.34	0.68474	T	-0.06	0.07882	N	0.015	0.00181	-0.9869	0.33371	T	0.040	0.17149	T	9	0.0017415881	0.00022	T	.	.	.	0.088	0.25558	.	.	0.268702046668	0.26493	0.2006873508889602	0.19985	0.347339441576	0.36622	0.269424051046	0.06066	T	0.07914	0.36057	T	-0.748416	0.00018	T	-0.78188	0.02397	T	0.00545688427672883	0.00059	T	0.219778	0.02813	T	0.039525516	0.05473	0.070023075	0.14827	0.039525516	0.05472	0.070023075	0.14827	-4.387	0.29381	T	0.11158149000149556	0.09556	0.075	0.05623	B	.	.	-0.096514	0.03663	0.735	0.87098185768093639	0.16986	0.06705	0.12726	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.097319066126405	0.16276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	3.58	0.40133	-0.270000	0.08614	.	.	-1.845000	0.00577	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.0:0.7985:0.0:0.2015	7.234	0.25234	55	0.97548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004831	0.000000	0.005566	0.007905	0.071429	0.011765	0.000000	0.000000	0.02632	1088.33	33	chrX	70352640	.	C	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.039;DP=714;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.651;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	18	0	1	0
chrX	71604347	71604347	C	G	exonic	GCNA	.	nonsynonymous SNV	GCNA:NM_052957:exon8:c.C1070G:p.A357G	.	.	.	.	.	.	.	.	.	.	.	3261879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0172296048258	.	.	2.338e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs372385736	2.642e-05	2.641e-05	2.178e-05	3.581e-05	0.0004	1.853e-05	1.602e-05	0.0002	0.0002	0	0	0	0.0001	0	0.0002	1.188e-06	8.682e-05	0.0004	1.778e-05	1.74e-05	2.569e-05	0	0.0006	2.95e-06	1.11e-06	9.765e-05	4.073e-05	0	0	0	0	0.0006	0	0	0	0	0	0.074	0.34621	T	0.386	0.15698	T	0.643	0.40492	P	0.364	0.43306	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.46	0.32238	T	-0.52	0.16187	N	0.055	0.02658	-1.0199	0.23747	T	0.032	0.13942	T	8	0.049360007	0.04513	T	0.01723	0.38843	T	0.022	0.04323	0.249	0.18602	0.123314135267	0.11883	0.07360403092500617	0.07297	0.201776064009	0.22587	0.272856831551	0.06517	T	0.018788	0.15087	T	-0.670249	0.00055	T	-0.940863	0.00292	T	0.0307888589222955	0.02113	T	0.309069	0.05976	T	0.06878907	0.15015	0.13553423	0.32448	0.06878907	0.15015	0.13553423	0.32447	-4.262	0.27641	T	.	.	0.105	0.20391	B	.;.	.;.	0.004282	0.04313	1.089	0.95532079865100317	0.27166	0.14187	0.18269	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.997495114181363	0.35680	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.046	0.13572	0.370000	0.20166	0.141000	0.15172	0.154000	0.17704	0.002000	0.15269	0.003000	0.18671	0.111000	0.18785	.	.	.	341	0.85936	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.05263	2500.81	37	chrX	71604347	.	C	G	2500.81	.	AC=2;AF=0.053;AN=38;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.79;SOR=1.641	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1433	18	1	0	0
chrX	72581151	72581151	T	C	exonic	PHKA1	.	nonsynonymous SNV	PHKA1:NM_001172436:exon30:c.A3307G:p.M1103V,PHKA1:NM_001122670:exon31:c.A3484G:p.M1162V,PHKA1:NM_002637:exon32:c.A3523G:p.M1175V	Muscle glycogenosis, X-linked recessive	0	1506	10	6	0	22	0.00725115	.	.	.	352428	not_specified|not_provided|PHKA1-related_disorder|Glycogen_storage_disease_IXd	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0010362,MedGen:C1845151,OMIM:300559,Orphanet:715	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.285	0.0800604960744	0.0004	0.0015894	0.0019	0.0001	0	0.0002	0.0020	0.0021	0.0048	0.0055	0.0018046	279	154602	rs201573707	0.0010	0.0010	0.0008	0.0013	0.0066	0.0009	0.0009	0.0060	0.0058	7.658e-05	8.525e-05	0.0013	0	0.0015	0.0049	0.0006	0.0015	0.0066	0.0007	0.0008	0.0007	0.0008	0.0054	0.0006	0.0006	0.0033	0.0026	0	0	0.0005	0.0011	0	0.0018	0	0.0009	0.0007	0.0054	0.053	0.39575	T	0.113	0.39190	T	0.001	0.11197	B	0.002	0.12133	B	0.000004	0.62929	D	0.137911	0.993319	0.41901	D	1.555	0.39373	L	-3.24	0.93474	D	-1.06	0.27669	N	0.15	0.31027	-0.1120	0.79821	T	0.620	0.86584	D	10	0.009249747	0.00209	T	0.08006	0.73375	D	0.285	0.60338	.	.	0.697474138103	0.69486	0.2779460491081148	0.27707	0.303140289571	0.32633	0.513917684555	0.40771	T	0.11083	0.42584	T	-0.307509	0.07969	T	-0.212849	0.53422	T	0.0063687064821838	0.00071	T	0.882412	0.61581	D	0.3477827	0.56894	0.37379596	0.62559	0.3684483	0.58470	0.4689969	0.69202	-2.043	0.03490	T	.	.	0.084	0.09627	B	.;.;.;.;.	.;.;.;.;.	2.494877	0.32192	18.97	0.90603892694428922	0.19856	0.83472	0.42587	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.954725974917581	0.28147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	3.65	0.40985	1.048000	0.29989	4.101000	0.41864	0.665000	0.62972	0.964000	0.33853	1.000000	0.68203	0.997000	0.79791	0.1825:0.0:0.0:0.8175	8.142	0.30252	238	0.90711	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.002761	0.000000	0.000000	0.000000	0.000000	0.011765	0.008850	0.005263	0.02632	1648.33	40	chrX	72581151	.	T	C	1648.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.207;SOR=0.712	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.07895	199.58	36	chrX	74591813	.	G	A	199.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.187;DP=969;ExcessHet=0.3672;FS=3.814;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-5.91;QD=0.95;ReadPosRankSum=-2.383;SOR=1.197	GT:AD:DP:GQ:PL	0/0:127,11:138:40:0,40,4468	16	0	3	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	12	0	7	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.07895	1192.79	36	chrX	74591957	.	C	T	1192.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.316;DP=1805;ExcessHet=0.3672;FS=5.198;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.13;MQRankSum=-13.17;QD=1.86;ReadPosRankSum=-2.357;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	16	0	3	0
chrX	74741253	74741253	C	T	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.G3304A:p.V1102I	.	2	1499	16	5	0	26	0.00859788	.	.	.	959347	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0968984578157	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs750439376	8.198e-06	8.195e-06	1.361e-06	2.203e-05	0.0005	3.86e-06	2.79e-06	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	3.564e-06	6.51e-05	1.847e-05	0	8.706e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.312	0.13925	T	0.531	0.10069	T	0.001	0.07471	B	0.002	0.06944	B	0.245799	0.15614	N	0.653642	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.69	0.19720	N	0.042	0.01498	-1.0406	0.17132	T	0.029	0.12629	T	10	0.046794057	0.03915	T	0.096898	0.76681	D	0.052	0.14661	0.086	0.00867	0.0934897674506	0.08844	0.06909784548585353	0.06847	0.180718933833	0.20323	0.299122810364	0.10271	T	0.03717	0.24375	T	-0.504728	0.00538	T	-0.962783	0.00224	T	0.0258973432837033	0.01391	T	0.59614	0.22137	T	0.039831918	0.05573	0.046645377	0.06548	0.039831918	0.05573	0.046645377	0.06548	-3.021	0.10409	T	.	.	0.070	0.03964	B	.;.;.	.;.;.	0.447504	0.08175	4.911	0.59955260094508367	0.06347	0.07388	0.13408	N	AEFGBI	.	.	.	.	.	.	.	.	.	4.28687679559605E-4	0.06935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-0.389	0.11835	0.231000	0.17651	-0.240000	0.10600	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.413000	0.27073	0.2127:0.292:0.1883:0.3071	0.461	0.00482	103	0.95740	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2172.33	150	chrX	74741253	.	C	T	2172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=783;ExcessHet=0;FS=2.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.521;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	18	0	1	0
chrX	75274469	75274469	C	T	exonic	UPRT	.	nonsynonymous SNV	UPRT:NM_001307944:exon1:c.C215T:p.S72F,UPRT:NM_145052:exon1:c.C215T:p.S72F	.	431	1079	8	4	0	16	0.00735971	.	.	.	1196408	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00866531453799	0.0006	.	0.0005	0	0.0009	0	0	0.0008	0	0.0001	0.0004592	71	154602	rs144630001	0.0007	0.0007	0.0006	0.0007	0.0215	0.0006	0.0006	0.0179	0.0166	0.0005	0.0007	0.0055	0	0	0.0215	0.0005	0.0019	0.0002	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.734e-05	0	0.0003	0.0030	0	0	0.0139	0.0005	0.0026	0	0.01	0.57480	D	0.035	0.53426	D	0.019	0.17989	B	0.023	0.19966	B	0.000290	0.00554	N	3.815970	1	0.08975	N	0	0.06538	N	.	.	.	-1.08	0.28497	N	0.161	0.16864	-1.0704	0.09326	T	0.049	0.20868	T	9	0.0054303706	0.00120	T	0.008665	0.22878	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.23397083950401912	0.23312	0.189411528645	0.21256	0.329345345497	0.14835	T	0.181773	0.53355	T	-0.606822	0.00132	T	-0.73238	0.04221	T	0.0238014036086912	0.01120	T	0.751225	0.37284	T	0.06055136	0.12439	0.08877476	0.20720	0.06055136	0.12439	0.08877476	0.20719	-5.924	0.45639	T	.	.	0.085	0.11845	B	.;.	.;.	1.378445	0.17898	13.43	0.97081343485066285	0.32281	0.02092	0.06211	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999216082	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.14	-2.19	0.06621	-0.090000	0.11129	.	.	-0.206000	0.08541	0.000000	0.06391	.	.	0.251000	0.23288	0.1261:0.2219:0.2448:0.4072	1.506	0.02337	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018711	0.000000	0.025974	0.039526	0.000000	0.023529	0.004425	0.000000	0.02632	2835.33	37	chrX	75274469	.	C	T	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=898;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.55;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1374	18	0	1	0
chrX	77969510	77969510	C	G	exonic	PGAM4	.	nonsynonymous SNV	PGAM4:NM_001029891:exon1:c.G129C:p.Q43H	.	364	1145	9	4	0	17	0.00736888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	0.00238411	0.0012	0	0	0	0	0.0003	0	0.0093	0.0011707	181	154602	rs782759305	0.0005	0.0005	0.0004	0.0009	0.0082	0.0005	0.0005	0.0075	0.0073	0	0	0.0001	0	0	0.0039	0.0001	0.0005	0.0082	0.0003	0.0003	0.0002	0.0005	0.0074	0.0002	0.0002	0.0049	0.0041	6.464e-05	0	0	0	0.0003	0	0.0047	0.0002	0	0.0074	0.027	0.46513	D	0.097	0.39190	T	0.001	0.07471	B	0.005	0.11217	B	0.000322	0.45700	U	0.146227	1	0.81001	D	1.975	0.53506	M	-0.68	0.72568	T	-2.54	0.55025	D	0.204	0.22614	-0.9702	0.37157	T	0.186	0.53601	T	9	0.012154847	0.00262	T	.	.	.	0.119	0.33137	0.433	0.48336	0.839248048735	0.83771	0.8275707842876794	0.82715	0.454292210566	0.45126	0.663874030113	0.61963	T	0.308833	0.68090	T	-0.527466	0.00398	T	-0.523764	0.19914	T	0.0538092047338066	0.06158	T	0.677732	0.28664	T	0.2401301	0.46912	0.20442697	0.44565	0.2401301	0.46912	0.20442697	0.44564	-8.784	0.66296	D	.	.	0.244	0.47859	B	.	.	1.455753	0.18774	13.92	0.94821585504551165	0.25591	0.02231	0.06481	N	AEFI	.	.	.	.	.	.	.	.	.	0.059979271914791	0.15181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.119	0.13989	0.010000	0.13140	1.290000	0.25406	0.088000	0.17592	0.707000	0.28693	0.997000	0.33255	0.383000	0.26402	0.0:0.5435:0.0:0.4565	2.696	0.04818	393	0.83123	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005170	0.000000	0.000000	0.011050	0.000000	0.000000	0.008969	0.016484	0.02632	2466.33	33	chrX	77969510	.	C	G	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.462;DP=865;ExcessHet=0;FS=0.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-0.595;QD=11.01;ReadPosRankSum=-0.977;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1365	18	0	1	0
chrX	78125810	78125810	G	A	exonic	PGK1	.	nonsynonymous SNV	PGK1:NM_000291:exon11:c.G1234A:p.D412N	Phosphoglycerate kinase 1 deficiency, X-linked recessive	1	1518	1	2	0	5	0.0016442	.	.	.	486498	Glycogen_storage_disease_due_to_phosphoglycerate_kinase_1_deficiency|not_provided	MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0399164136543	.	.	4.558e-05	0	0	0	0	8.334e-05	0	0	3.23e-05	5	154602	rs782165735	9.726e-05	9.837e-05	9.535e-05	0.0001	0.0012	8.2e-05	7.643e-05	0.0005	0.0003	0	0	0	0	0	0.0012	0.0001	0.0002	5.561e-05	6.255e-05	6.093e-05	7.709e-05	2.935e-05	0.0001	2.895e-05	2.067e-05	6.153e-05	4.301e-05	0	0	0	0	0	0	0	0.0001	0	0	0.182	0.21801	T	0.087	0.40747	T	0.001	0.07471	B	0.002	0.06944	B	0.000029	0.55875	D	0.153249	0.999823	0.49512	D	1.355	0.33814	L	-2.96	0.91956	D	-1.07	0.27876	N	0.106	0.09066	0.267	0.87023	D	0.712	0.90108	D	10	0.36939877	0.53356	T	0.039916	0.59082	D	0.337	0.65913	.	.	0.840393522238	0.83886	0.7540829808935435	0.75355	0.105795419672	0.11961	0.555442631245	0.46625	T	0.435126	0.78197	T	-0.234651	0.16038	T	-0.369331	0.36967	T	0.205127047258359	0.20696	T	0.90081	0.65538	D	0.6736339	0.76627	0.6063672	0.77115	0.6736339	0.76629	0.6063672	0.77116	-5.085	0.37748	T	0.22366520535468068	0.30196	0.161	0.35519	B	.;.	.;.	3.233290	0.44108	21.9	0.99587785720735911	0.73395	0.97921	0.78139	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999998851	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	7.178000	0.77202	9.707000	0.81321	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.950	0.86114	399	0.82780	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002379	0.000000	0.000000	0.000000	0.000000	0.000000	0.015464	0.000000	0.02632	1347.33	114	chrX	78125810	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.675;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	18	0	1	0
chrX	79171270	79171270	C	A	exonic	GPR174	.	nonsynonymous SNV	GPR174:NM_032553:exon3:c.C263A:p.P88H	.	431	1072	8	11	0	30	0.0137994	.	.	.	3192389	GPR174-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.00898659524547	0.0014	0.0010596	0.0022	0.0007	0.0012	0	0.0005	0.0027	0	0.0046	0.0021992	340	154602	rs147721174	0.0029	0.0029	0.0029	0.0030	0.0065	0.0029	0.0028	0.0046	0.0040	0.0005	0.0018	0.0004	3.315e-05	0.0005	0.0065	0.0032	0.0028	0.0043	0.0019	0.0019	0.0020	0.0015	0.0031	0.0016	0.0016	0.0027	0.0025	0.0005	0	0.0016	0.0004	0	0.0003	0	0.0031	0.0013	0.0030	0.14	0.25664	T	0.141	0.33442	T	0.0	0.02946	B	0.003	0.08700	B	0.978483	0.08110	N	0.990227	1	0.08975	N	-0.29	0.03673	N	-0.62	0.71895	T	0.33	0.03889	N	0.057	0.02861	-0.9286	0.44342	T	0.181	0.52843	T	10	0.007401705	0.00168	T	0.008987	0.23678	T	0.082	0.23913	.	.	0.161926535498	0.15789	0.6680447524467892	0.66742	0.294491625161	0.31871	0.389591693878	0.23612	T	0.005212	0.04657	T	-0.580106	0.00192	T	-0.606203	0.12296	T	0.0021638483810557	0.00022	T	0.639636	0.25265	T	0.20237204	0.42280	0.16100536	0.37472	0.20237204	0.42280	0.16100536	0.37471	-3.426	0.15408	T	.	.	0.158	0.36928	B	.;.	.;.	0.990417	0.13686	10.22	0.87387625887651899	0.17191	0.02742	0.07419	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999065652146942	0.38343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.04	0.34171	1.121000	0.30897	0.159000	0.15383	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.398:0.4773:0.1247:0.0	7.885	0.28805	663	0.61610	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.004135	0.000000	0.005566	0.003953	0.000000	0.000000	0.004425	0.005263	0.05263	5892.81	76	chrX	79171270	.	C	A	5892.81	.	AC=2;AF=0.053;AN=38;DP=1294;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=0.816	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	18	1	0	0
chrX	83873855	83873855	G	T	exonic	CYLC1	.	nonsynonymous SNV	CYLC1:NM_021118:exon4:c.G1147T:p.D383Y	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0707718551319	0.0011	0.000264901	0.0008	0.0002	0.0003	0	0	0.0013	0.0022	0.0001	0.0006339	98	154602	rs143448675	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	7.729e-05	0.0003	0.0009	0	4.978e-05	0.0010	0.0013	0.0014	0.0003	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0015	0	0	0	0.0014	0	0	0.041	0.41915	D	0.003	0.76473	D	0.987	0.61912	D	0.823	0.59197	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	1.86	0.24285	T	-3.1	0.63554	D	0.107	0.09207	-1.0560	0.12776	T	0.081	0.32031	T	9	0.021929264	0.00535	T	0.070772	0.71092	D	0.023	0.04649	.	.	0.043077524339	0.03247	7.809140513108194E-4	0.00072	0.00174734953048	0.00149	0.372232407331	0.21152	T	0.07123	0.34157	T	-0.641249	0.00082	T	-0.73442	0.04130	T	0.0496162527335584	0.05432	T	0.49605	0.15399	T	0.076202534	0.17219	0.112102374	0.27046	0.076202534	0.17219	0.112102374	0.27045	-6.93	0.53521	T	.	.	0.140	0.30739	B	.	.	1.718493	0.21882	15.39	0.49648201238373835	0.04246	0.05961	0.11920	N	AEFI	.	.	.	.	.	.	.	.	.	1.25534860360014E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	1.09	0.19517	-0.448000	0.06893	0.850000	0.22129	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.2625:0.2216:0.5159:0.0	3.253	0.06418	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	33	chrX	83873855	.	G	T	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.783;DP=709;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.184;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	18	0	1	0
chrX	86148727	86148727	C	T	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.C107T:p.P36L,DACH2:NM_053281:exon1:c.C107T:p.P36L	.	427	1087	4	4	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.207497364324	0.0013	0.000264901	0.0012	0.0003	0.0006	0	0.0003	0.0018	0.0039	0.0014	0.0009961	154	154602	rs147377892	0.0012	0.0013	0.0012	0.0013	0.0131	0.0012	0.0012	0.0103	0.0093	0.0002	0.0007	0.0003	0	0	0.0131	0.0014	0.0014	0.0010	0.0008	0.0008	0.0010	0.0004	0.0013	0.0007	0.0006	0.0010	0.0009	0.0001	0	0.0010	0	0	0	0.0093	0.0013	0.0013	0.0012	0.003	0.68238	D	0.661	0.14771	T	0.008	0.15535	B	0.009	0.17295	B	0.000166	0.48594	D	0.000000	1	0.81001	D	2.3	0.65703	M	-2.46	0.88924	D	-2.24	0.50175	N	0.101	0.08366	0.037	0.82994	D	0.606	0.86004	D	10	0.024837911	0.00698	T	0.207497	0.87096	D	0.420	0.72930	.	.	0.647293358273	0.64436	0.657185768473161	0.65655	0.15503215024	0.17510	0.48172044754	0.36294	T	0.27271	0.64511	T	-0.337842	0.05539	T	-0.277077	0.47104	T	0.0669084787368774	0.08211	T	0.789921	0.43036	T	0.1234794	0.28993	0.2296988	0.48049	0.1234794	0.28993	0.2296988	0.48048	-3.629	0.19614	T	.	.	0.122	0.25396	B	.;.	.;.	3.074515	0.41339	21.3	0.99574109357553653	0.72561	0.85689	0.44849	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919883216797	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.49	4.49	0.54177	3.838000	0.55532	3.708000	0.39547	0.545000	0.25583	1.000000	0.71638	0.999000	0.35428	0.113000	0.18872	0.0:0.908:0.0:0.092	11.056	0.47136	949	0.11373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.007586	0.000000	0.003711	0.015810	0.071429	0.035294	0.004425	0.000000	0.07895	4764.77	133	chrX	86148727	.	C	T	4764.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.76;DP=821;ExcessHet=0;FS=0.565;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.851;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1125	17	1	1	0
chrX	87518282	87518282	T	C	exonic	KLHL4	.	nonsynonymous SNV	KLHL4:NM_019117:exon1:c.T389C:p.M130T,KLHL4:NM_057162:exon1:c.T389C:p.M130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0210089838883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.114e-07	9.105e-07	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.06523	T	0.569	0.08839	T	0.003	0.11197	B	0.009	0.14300	B	0.065957	0.02194	N	2.050070	0.914638	0.27431	N	1.7	0.43825	L	-0.72	0.72994	T	-0.36	0.13035	N	0.102	0.14480	-0.9463	0.41599	T	0.183	0.53163	T	10	0.10404888	0.19163	T	0.021009	0.43710	T	0.115	0.32236	0.301	0.26843	0.506864653165	0.50326	0.3126285646563701	0.31175	0.335580065157	0.35557	0.586653590202	0.51023	T	0.020286	0.16003	T	-0.17625	0.24296	T	-0.490947	0.23291	T	0.0359042529676456	0.02964	T	0.470853	0.13943	T	0.1401861	0.32354	0.11532211	0.27838	0.1401861	0.32354	0.11532211	0.27837	-2.478	0.05633	T	.	.	0.080	0.14062	B	.;.	.;.	1.125122	0.15109	11.60	0.61114378984770168	0.06629	0.78877	0.38984	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999994803461324	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	2.54	0.29674	0.841000	0.27267	2.410000	0.32637	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.961000	0.51904	0.1523:0.0:0.1557:0.692	6.820	0.23036	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2624.81	35	chrX	87518282	.	T	C	2624.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.22;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1406	18	1	0	0
chrX	91436095	91436095	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G518A:p.R173H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.226169684822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.106e-07	9.105e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.055	0.51737	T	0.997	0.70673	D	0.654	0.52604	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.955	0.52871	M	1.94	0.22678	T	-2.9	0.61722	D	0.365	0.54234	-1.0444	0.16000	T	0.084	0.32929	T	10	0.49091274	0.60986	T	0.22617	0.88032	D	0.298	0.61843	0.702	0.83869	0.83955497876	0.83802	0.7690775166847788	0.76856	1.52672906676	0.87513	0.682373046875	0.64609	T	0.140502	0.47507	T	0.0541665	0.58878	T	-0.15997	0.58354	T	0.987833738327026	0.78258	D	0.963204	0.93081	D	0.62151736	0.73844	0.35916895	0.61380	0.62151736	0.73846	0.35916895	0.61379	-7.403	0.56926	T	.	.	0.178	0.38800	B	.;.	.;.	4.872886	0.79845	27.2	0.99837039810359474	0.91800	0.97365	0.74289	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999797819	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.29	4.29	0.50359	7.850000	0.85220	10.976000	0.84567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.619	0.61593	949	0.11373	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	38	chrX	91436095	.	G	A	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.289;DP=756;ExcessHet=0;FS=1.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.597;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	18	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	372.78	164	chrX	91436668	.	G	A	372.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.363;DP=1481;ExcessHet=0.7564;FS=155.266;InbreedingCoeff=-0.1236;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.819;SOR=8.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	15	0	4	0
chrX	91835616	91835616	G	T	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon1:c.G112T:p.V38F,PCDH11X:NM_001168361:exon1:c.G112T:p.V38F,PCDH11X:NM_001168362:exon1:c.G112T:p.V38F,PCDH11X:NM_001168363:exon1:c.G112T:p.V38F,PCDH11X:NM_032968:exon1:c.G112T:p.V38F,PCDH11X:NM_032969:exon1:c.G112T:p.V38F	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.112066605475	.	.	6.845e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs752539325	8.104e-05	8.104e-05	7.895e-05	8.526e-05	0.0007	6.692e-05	6.217e-05	0.0002	0.0001	0	5.684e-05	0.0002	0	2.467e-05	0.0007	8.669e-05	0.0001	1.847e-05	2.712e-05	3.484e-05	2.572e-05	3.042e-05	0.0004	7.21e-06	3e-06	.	.	0	0	0	0.0004	0	0	0	1.89e-05	0	0.0004	0.011	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.99998	0.54805	D	1.465	0.36909	L	1.64	0.27822	T	-3.09	0.63901	D	0.711	0.75374	-0.7513	0.57867	T	0.177	0.52131	T	10	0.6776366	0.71087	D	0.112067	0.79008	D	0.356	0.67691	0.448	0.50793	0.743348397409	0.74104	0.9391187386239206	0.93892	2.62205694876	0.98273	0.698957324028	0.66994	T	0.131452	0.46095	T	-0.1441	0.29240	T	-0.170466	0.57400	T	0.341553746903787	0.26685	T	0.950405	0.81010	D	0.67736775	0.76827	0.5236375	0.72478	0.67736775	0.76829	0.5236375	0.72479	-7.638	0.58875	D	.	.	0.183	0.39765	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362172	0.46425	22.3	0.99541905764375094	0.70586	0.96640	0.70161	D	AEFGI	.	.	.	.	.	.	.	.	.	0.979235289672574	0.30006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	3.93	0.44666	6.166000	0.71739	6.141000	0.54053	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.473	0.67104	974	0.05496	.;Cadherin, N-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002066	0.000000	0.000000	0.000000	0.000000	0.000000	0.008850	0.005263	0.07895	12155.8	33	chrX	91835616	.	G	T	12155.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1248;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=59.93;MQRankSum=1.99;QD=18.9;ReadPosRankSum=-1.238;SOR=0.733	GT:AD:DP:GQ:PL	0/1:221,216:437:99:5352,0,5546	17	1	1	0
chrX	93673116	93673136	GCTGCTGCTGCTGCCGCTGCC	-	exonic	NAP1L3	.	nonframeshift deletion	NAP1L3:NM_004538:exon1:c.169_189del:p.G57_S63del	.	390	1119	8	3	2	16	0.0062167	.	.	.	717878	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0494	0.00768212	0.0094	0.0009	0.0473	0	0.0010	0.0041	0.0064	0.0091	0.0057438	888	154602	rs760078060	0.0052	0.0052	0.0054	0.0048	0.0453	0.0051	0.0051	0.0434	0.0427	0.0008	0.0453	0.0001	9.98e-05	0.0014	0.0022	0.0040	0.0050	0.0078	0.0063	0.0066	0.0064	0.0060	0.0388	0.0059	0.0058	0.0357	0.0345	0.0011	0	0.0388	0	0	0.0010	0	0.0043	0.0095	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1829.29	37	chrX	93673115	.	TGCTGCTGCTGCTGCCGCTGCC	T	1829.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.399;SOR=0.76	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	18	0	1	0
chrX	100688421	100688423	TCT	-	exonic	SYTL4	.	nonframeshift deletion	SYTL4:NM_001174068:exon10:c.933_935del:p.E311del,SYTL4:NM_001370161:exon10:c.933_935del:p.E311del,SYTL4:NM_001129896:exon11:c.933_935del:p.E311del,SYTL4:NM_001370162:exon11:c.933_935del:p.E311del,SYTL4:NM_001370163:exon11:c.933_935del:p.E311del,SYTL4:NM_001370164:exon11:c.933_935del:p.E311del,SYTL4:NM_001370169:exon11:c.933_935del:p.E311del,SYTL4:NM_001370160:exon12:c.933_935del:p.E311del,SYTL4:NM_001370166:exon12:c.933_935del:p.E311del,SYTL4:NM_080737:exon12:c.933_935del:p.E311del,SYTL4:NM_001370165:exon13:c.933_935del:p.E311del,SYTL4:NM_001370167:exon13:c.933_935del:p.E311del,SYTL4:NM_001370168:exon13:c.933_935del:p.E311del	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0.00317881	0.0015	0.0018	0.0023	0.0003	0.0012	0.0016	0.0036	0.0003	0.0006147	16	26028	rs200492084	0.0006	0.0013	0.0006	0.0005	0.0144	0.0005	0.0005	0.0114	0.0104	0.0004	0.0008	5.199e-05	3.324e-05	0.0009	0.0144	0.0005	0.0007	0.0003	0.0005	0.0005	0.0006	0.0003	0.0007	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0003	0	0	0.0007	0.0094	0.0007	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063328	0.013699	0.066790	0.052133	0.000000	0.082353	0.053097	0.094737	0.05263	1377.77	39	chrX	100688420	.	GTCT	G	1377.77	.	AC=2;AF=0.053;AN=38;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.66;SOR=1.681	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	1	0	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H,TAF7L:NM_024885:exon13:c.G1373A:p.R458H	.	2	1488	22	10	0	42	0.0139165	.	.	.	1196264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.035368	0.020408	0.029685	0.086957	0.071429	0.035294	0.008850	0.021053	0.05263	794.81	33	chrX	101269209	.	C	T	794.81	.	AC=2;AF=0.053;AN=38;DP=620;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.39;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1214	18	1	0	0
chrX	101398432	101398432	C	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.G937T:p.D313Y	Fabry disease, X-linked;Fabry disease, cardiac variant, X-linked	0	1515	3	4	0	11	0.00361723	.	.	YES	25777	Cardiomyopathy|Cardiovascular_phenotype|not_specified|not_provided|Fabry_disease|Hypertrophic_cardiomyopathy|Sudden_unexplained_death	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C0520806	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.614	0.895103895607	0.0029	0.00211921	0.0031	0.0011	0.0017	0	0.0013	0.0044	0.0063	0.0029	0.00315	487	154602	rs28935490	0.0038	0.0038	0.0038	0.0039	0.0044	0.0037	0.0037	0.0042	0.0042	0.0005	0.0020	0.0062	0	0.0008	0.0044	0.0043	0.0033	0.0033	0.0031	0.0032	0.0032	0.0031	0.0053	0.0029	0.0028	0.0048	0.0046	0.0007	0	0.0015	0.0064	0	0.0005	0	0.0053	0.0040	0.0023	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.89	0.63157	P	0.001400	0.39175	N	0.330516	0.755886	0.33982	D	2.485	0.72352	M	-8.15	0.99928	D	-3.18	0.64478	D	0.242	0.27316	1.097	0.99542	D	0.993	0.99826	D	9	0.021395475	0.00511	T	0.895104	0.99207	D	0.614	0.84932	.	.	0.99497889687	0.99492	0.9856763339236793	0.98560	1.90210659146	0.92831	0.335618317127	0.15782	T	0.97888	0.99815	D	-0.114029	0.34105	T	0.0650709	0.74582	D	0.0252911595714227	0.01311	T	0.879712	0.59601	D	0.8621148	0.88248	0.7106251	0.82930	0.91477954	0.92746	0.7168815	0.83289	-3.942	0.22933	T	0.3716853201508746	0.46712	0.150	0.33273	B	.;.	.;.	1.866822	0.23715	16.12	0.98417197864539607	0.41244	0.77115	0.37881	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99999921453141	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	-5.05	0.02733	0.136000	0.15794	-0.813000	0.07327	-0.214000	0.08267	0.979000	0.35152	0.000000	0.08366	0.963000	0.52385	0.0:0.2038:0.0967:0.6995	10.225	0.42399	125	0.94984	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	1848.81	38	chrX	101398432	.	C	A	1848.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.44;SOR=0.728	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	18	1	0	0
chrX	101492205	101492205	A	G	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.A3616G:p.K1206E	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0287880630469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.692e-07	9.107e-07	1.43e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.283e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.30669	T	.	.	.	0.166	0.17553	-1.0047	0.28547	T	0.071	0.28839	T	4	0.09623724	0.17246	T	0.028788	0.51409	D	0.018	0.03083	.	.	0.21279746466	0.20884	0.02588546856481832	0.02539	.	.	0.516894936562	0.41189	T	.	.	.	-0.52916	0.00388	T	-0.997878	0.00143	T	0.143737708179918	0.16593	T	0.360464	0.08297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.39408	B	.	.	1.565276	0.20044	14.56	0.58806973168392085	0.06077	0.07837	0.13830	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.959220188783138	0.28412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.28	-1.1	0.09367	-1.430000	0.02541	0.887000	0.22442	0.736000	0.85976	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.3598:0.5264:0.1138:0.0	6.137	0.19459	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	68	chrX	101492205	.	A	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.542;DP=1309;ExcessHet=0;FS=1.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.338;SOR=0.764	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,110,1800	18	0	1	0
chrX	101492694	101492694	G	A	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G4105A:p.V1369I	.	422	1090	8	2	0	12	0.00547445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00327312744138	.	0.000794702	0.0047	0	0	0	0	0.0088	0	0.0011	0.0005175	80	154602	rs111768798	0.0026	0.0024	0.0026	0.0025	0.0060	0.0025	0.0024	0.0042	0.0035	0.0005	0.0008	0.0150	0	0.0012	0.0060	0.0026	0.0031	0.0010	0.0018	0.0019	0.0020	0.0013	0.0025	0.0016	0.0015	0.0021	0.0020	0.0005	0	0.0008	0.0157	0	0.0005	0	0.0025	0.0007	0.0004	.	.	.	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.2	0.18570	T	.	.	.	0.047	0.01911	-1.0245	0.22246	T	0.049	0.20789	T	4	0.0049176216	0.00105	T	0.003273	0.07237	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.02176080963547163	0.02128	.	.	0.600645780563	0.52995	T	.	.	.	-0.96552	0.00000	T	-1.1621	0.00006	T	0.00401072786559609	0.00043	T	0.339366	0.07307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	0.134198	0.05294	1.787	0.49739895296577563	0.04262	0.04419	0.10011	N	AEFBI	.	.	.	.	.	.	.	.	.	0.741358143149509	0.23217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.61	0.64	0.16924	0.014000	0.13228	-0.416000	0.09315	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.162:0.2386:0.3537:0.2456	0.765	0.00949	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	68	chrX	101492694	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.046;DP=1355;ExcessHet=0;FS=2.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.948;SOR=0.831	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,110,1800	18	0	1	0
chrX	101493585	101493585	G	A	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G4996A:p.A1666T	.	422	1098	0	2	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	0.00953642	0.0012	0.0203	0	0	0	0	0	0	0.0004592	71	154602	rs145757188	0.0011	0.0010	0.0012	0.0009	0.0334	0.0010	0.0010	0.0316	0.0308	0.0334	0.0024	5.364e-05	0	0	0.0039	0.0001	0.0028	0.0002	0.0080	0.0083	0.0083	0.0070	0.0273	0.0075	0.0073	0.0258	0.0252	0.0273	0	0.0035	0	0	0	0	0.0001	0.0048	0	0.163	0.23450	T	0.283	0.21478	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	2.06	0.20523	T	-0.51	0.15986	N	0.041	0.01421	-1.0020	0.29342	T	0.042	0.18202	T	3	0.0028217137	0.00045	T	.	.	.	0.050	0.13987	.	.	0.112648838833	0.10856	0.03881947201137774	0.03827	.	.	0.40875351429	0.26284	T	.	.	.	-0.909263	0.00000	T	-1.05724	0.00059	T	0.00479267099488875	0.00051	T	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	0.631518	0.10002	6.753	0.46563748898834195	0.03739	0.08791	0.14667	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.956026489052887	0.28223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	1.03	0.19161	-0.697000	0.05199	0.148000	0.15257	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.2133:0.0:0.6128:0.1738	4.660	0.12025	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1952.81	68	chrX	101493585	.	G	A	1952.81	.	AC=2;AF=0.053;AN=38;DP=1278;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.51;SOR=0.822	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,110,1800	18	1	0	0
chrX	101494036	101494036	-	GGCTGGGGCTGGGGTTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5447_5448insGGCTGGGGCTGGGGTTGG:p.G1820_A1821insVGAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	7.259e-05	0.0002	0	0.0010	9.526e-05	8.277e-05	0.0005	0.0004	0.0002	0.0004	0.0002	0.0010	0.0005	0	6.673e-05	9.272e-05	0	7.644e-05	0.0001	0.0001	0	0.0003	0	0	.	.	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1703.77	101	chrX	101494036	.	A	AGGCTGGGGCTGGGGTTGG	1703.77	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=1427;ExcessHet=0;FS=19.781;InbreedingCoeff=0.9995;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-0.56;QD=25.81;ReadPosRankSum=3.62;SOR=3.593	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,110,1710	18	0	1	0
chrX	101494036	101494036	-	GGCTGGGGCTGGGGTTGGGGCTGGGGTTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5447_5448insGGCTGGGGCTGGGGTTGGGGCTGGGGTTGG:p.G1820_A1821insVGAGVGAGAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.872e-05	5.293e-05	0.0001	0	0.0002	5.785e-05	4.9e-05	3.263e-05	2.431e-05	0.0002	0.0001	0.0002	0	0.0006	0	6.067e-05	9.271e-05	8.389e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1703.77	101	chrX	101494036	.	A	AGGCTGGGGCTGGGGTTGGGGCTGGGGTTGG	1703.77	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.961;DP=1427;ExcessHet=0;FS=19.781;InbreedingCoeff=0.9995;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-0.56;QD=25.81;ReadPosRankSum=3.62;SOR=3.593	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,110,1710	18	0	1	0
chrX	101494054	101494054	-	GGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG	exonic	ARMCX4	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5465_5466insGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG:p.A1823_G1824insEAGAEAGAGAGAEAGAGTEAGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.539e-05	0.0001	0.0001	0	0.0003	5.569e-05	4.724e-05	0.0001	7.079e-05	0.0001	0.0002	0.0001	0.0003	0.0003	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	7356.21	70	chrX	101494054	.	A	AGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGG	7356.21	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.739;DP=1142;ExcessHet=10.4813;FS=292.452;InbreedingCoeff=-0.1297;MLEAC=2;MLEAF=0.125;MQ=59.59;MQRankSum=0;QD=23.06;ReadPosRankSum=-0.736;SOR=2.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:26,0:74:99:0|1:101494051_C_T:1836,1915,3006:101494051	7	0	1	11
chrX	101625983	101625983	T	A	exonic	ARMCX3	.	nonsynonymous SNV	ARMCX3:NM_016607:exon5:c.T1004A:p.F335Y,ARMCX3:NM_177947:exon5:c.T1004A:p.F335Y,ARMCX3:NM_177948:exon5:c.T1004A:p.F335Y	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0050	0.00529801	0.0020	0.0182	0.0010	0	0	0.0004	0	0	0.0017464	270	154602	rs115179885	0.0010	0.0010	0.0010	0.0008	0.0186	0.0009	0.0009	0.0172	0.0167	0.0186	0.0016	5.176e-05	0	4.938e-05	0.0044	0.0005	0.0018	7.514e-05	0.0050	0.0052	0.0052	0.0046	0.0165	0.0047	0.0046	0.0153	0.0149	0.0165	0	0.0022	0	0	0	0	0.0005	0.0026	0	0.242	0.17584	T	0.384	0.15794	T	0.013	0.16609	B	0.026	0.20792	B	0.147949	0.18064	N	0.630541	0.990965	0.24100	N	1.115	0.28702	L	1.47	0.31987	T	-0.72	0.20358	N	0.289	0.32701	-1.0398	0.17374	T	0.028	0.11926	T	9	0.004819751	0.00102	T	.	.	.	0.098	0.28162	.	.	0.52991035303	0.52639	0.2998826735405795	0.29901	1.14464333826	0.79041	0.421489179134	0.28041	T	0.013197	0.11459	T	-0.704504	0.00034	T	-0.771122	0.02731	T	0.00319766287587958	0.00034	T	0.472453	0.14032	T	0.1537538	0.34836	0.078945786	0.17728	0.1537538	0.34836	0.078945786	0.17728	-3.546	0.17082	T	.	.	0.093	0.14015	B	.;.;.	.;.;.	1.033898	0.14140	10.72	0.80509967214650668	0.13237	0.50835	0.28755	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999616938766607	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.44	-0.678	0.10782	-0.273000	0.08580	-1.855000	0.04605	0.661000	0.55757	0.150000	0.23655	0.000000	0.08366	1.000000	0.97212	0.1935:0.3309:0.0:0.4756	3.052	0.05800	124	0.95048	Armadillo repeat-containing domain;Armadillo repeat-containing domain;Armadillo repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011757	0.020408	0.020408	0.007905	0.000000	0.000000	0.004425	0.000000	0.05263	1266.81	36	chrX	101625983	.	T	A	1266.81	.	AC=2;AF=0.053;AN=38;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.54;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	18	1	0	0
chrX	102715045	102715045	C	T	exonic	ARMCX5-GPRASP2;GPRASP2	.	nonsynonymous SNV	GPRASP2:NM_001184875:exon4:c.C176T:p.A59V,GPRASP2:NM_138437:exon4:c.C176T:p.A59V,GPRASP2:NM_001004051:exon5:c.C176T:p.A59V,GPRASP2:NM_001184874:exon5:c.C176T:p.A59V,GPRASP2:NM_001184876:exon5:c.C176T:p.A59V,ARMCX5-GPRASP2:NM_001199818:exon7:c.C176T:p.A59V	.	432	1089	0	1	0	2	0.000917431	.	.	.	3436838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00315173579457	.	.	9.13e-05	0	0	0.0005	0	2.088e-05	0	0.0004	9.06e-05	14	154602	rs1327200158	5.099e-05	5.099e-05	4.22e-05	6.876e-05	0.0004	4.027e-05	3.619e-05	0.0003	0.0003	0.0001	2.84e-05	0	0.0004	0	0	1.781e-05	4.339e-05	0.0004	4.427e-05	4.356e-05	3.858e-05	5.684e-05	0.0004	1.694e-05	1.04e-05	1.063e-05	3.98e-06	6.423e-05	0	0	0	0.0003	0	0	1.877e-05	0	0.0004	0.093	0.31532	T	0.278	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	0.754858	0.06505	N	1.145510	0.999964	0.18878	N	-0.345	0.03330	N	3.12	0.08106	T	-0.6	0.17834	N	0.018	0.00252	-0.9307	0.44036	T	0.012	0.04700	T	10	0.02909705	0.01038	T	0.003152	0.06876	T	0.060	0.17295	0.11	0.02049	0.299427821978	0.29548	0.06551349309367474	0.06490	0.141977382517	0.16002	0.529940009117	0.43025	T	0.003192	0.02596	T	-0.842768	0.00003	T	-1.08756	0.00035	T	0.0121763494116898	0.00195	T	0.433257	0.11819	T	0.034531575	0.03891	0.07837296	0.17547	0.034531575	0.03891	0.07837296	0.17547	-2.902	0.09163	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	0.970364	0.13472	9.984	0.82212647663841387	0.14076	0.20204	0.20953	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.819541030610609	0.24499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6	1.82	0.24209	1.859000	0.39058	.	.	-0.715000	0.03906	0.468000	0.26706	0.144000	0.23118	0.502000	0.29062	0.0929:0.1525:0.5967:0.158	4.346	0.10568	228	0.91137	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3216.81	33	chrX	102715045	.	C	T	3216.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.23;SOR=0.88	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1350	18	1	0	0
chrX	102749723	102749723	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C728G:p.P243R,BHLHB9:NM_001142529:exon3:c.C728G:p.P243R,BHLHB9:NM_030639:exon3:c.C728G:p.P243R,BHLHB9:NM_001142524:exon4:c.C728G:p.P243R,BHLHB9:NM_001142525:exon4:c.C728G:p.P243R,BHLHB9:NM_001142526:exon4:c.C728G:p.P243R,BHLHB9:NM_001142527:exon4:c.C728G:p.P243R,BHLHB9:NM_001142528:exon4:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350270:exon6:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350269:exon7:c.C728G:p.P243R,ARMCX5-GPRASP2:NM_001350268:exon8:c.C728G:p.P243R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0208531724619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.463e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.008	0.67890	D	0.845	0.46707	P	0.467	0.46683	P	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.77	0.11407	T	-0.32	0.12283	N	0.204	0.22742	-1.0229	0.22769	T	0.011	0.04369	T	9	0.10330346	0.18984	T	0.020853	0.43523	T	0.071	0.20720	0.179	0.08626	0.0986583533028	0.09354	0.1323248924144818	0.13157	0.398697379634	0.40922	0.338050365448	0.16146	T	0.012816	0.11196	T	-0.347705	0.04873	T	-0.73723	0.04008	T	0.203076422214508	0.20584	T	0.569643	0.20265	T	0.060111605	0.12295	0.08432909	0.19391	0.060111605	0.12295	0.08432909	0.19391	-3.4	0.15057	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.108049	0.26822	17.25	0.95735756095129698	0.27684	0.05020	0.10801	N	AEFDGBI	.	.	.	.	.	.	.	.	.	4.13537104595771E-4	0.06899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	0.643	0.16942	1.132000	0.31031	.	.	0.597000	0.34315	0.008000	0.17931	0.030000	0.21233	0.540000	0.29938	0.1862:0.4232:0.1778:0.2128	0.974	0.01332	253	0.90069	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	55.72	37	chrX	102749723	.	C	G	55.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.635;DP=1001;ExcessHet=0;FS=85.004;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.19;SOR=6.592	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1302	17	0	1	1
chrX	103500108	103500108	T	C	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.A649G:p.T217A	.	0	1520	1	1	0	3	0.000985869	.	.	.	2327667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.000749242658125	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201466501	0.0006	0.0010	0.0004	0.0010	0.0046	0.0006	0.0005	0.0030	0.0025	0.0002	0.0001	0	0.0003	0.0003	0.0046	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0003	0.0007	0.0004	0.0003	0.0006	0.0005	0.0003	0	0	0	0.0003	0.0003	0	0.0007	0	0	1.0	0.00964	T	0.732	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.040445	0.24057	N	0.157981	0.999938	0.19363	N	-0.035	0.05024	N	1.04	0.40218	T	0.15	0.05310	N	0.055	0.02658	-1.0106	0.26729	T	0.028	0.11882	T	10	0.052396297	0.05268	T	7.49E-4	0.00529	T	0.045	0.12272	.	.	0.701518117412	0.69893	0.07523847369235283	0.07459	0.790129032098	0.65737	0.325451135635	0.14246	T	0.00107	0.00595	T	-0.740552	0.00020	T	-1.00938	0.00122	T	0.00820716696809511	0.00098	T	0.561944	0.19701	T	0.02895921	0.02314	0.051735375	0.08386	0.02895921	0.02313	0.051735375	0.08385	-3.439	0.15587	T	.	.	0.054	0.00382	B	.;.	.;.	-0.370680	0.02325	0.248	0.24587499384108685	0.01094	0.06076	0.12049	N	AEFGI	.	.	.	.	.	.	.	.	.	0.020826391137973	0.13294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	1.049000	0.30001	0.575000	0.19646	-0.685000	0.04181	0.969000	0.34210	0.481000	0.25102	0.082000	0.17360	0.0:0.6754:0.0:0.3246	4.462	0.11088	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2441.33	37	chrX	103500108	.	T	C	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=8.64;DP=808;ExcessHet=0;FS=10.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.98;MQRankSum=-12.33;QD=13.79;ReadPosRankSum=-1.946;SOR=1.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	18	0	1	0
chrX	103500110	103500110	C	A	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.G647T:p.S216I	.	0	1520	1	1	0	3	0.000985869	.	.	.	2318063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00113995960731	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs200647197	0.0006	0.0010	0.0004	0.0010	0.0048	0.0006	0.0005	0.0032	0.0027	0.0002	0.0001	0	0.0003	0.0003	0.0048	0.0007	0.0003	0.0005	0.0004	0.0005	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0	0	0.0003	0.0002	0	0.0007	0	0	0.377	0.11298	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	0.135365	0.02842	N	10.000100	0.999992	0.08975	N	-0.69	0.01958	N	0.84	0.47477	T	0.44	0.03243	N	0.067	0.03956	-1.0211	0.23357	T	0.058	0.24167	T	10	0.05337599	0.05519	T	0.00114	0.01410	T	0.110	0.31079	.	.	0.584859779323	0.58159	0.08681265634083288	0.08615	0.943704141384	0.72318	0.35770714283	0.19050	T	0.001953	0.01365	T	-0.684735	0.00045	T	-0.929202	0.00335	T	0.0127723858185158	0.00217	T	0.050295	0.00357	T	0.05126436	0.09387	0.06071687	0.11608	0.05126436	0.09386	0.06071687	0.11608	-5.785	0.44443	T	.	.	0.082	0.08512	B	.;.	.;.	-0.639942	0.01466	0.090	0.38936727241777819	0.02656	0.02828	0.07569	N	AEFGI	.	.	.	.	.	.	.	.	.	0.959111409780341	0.28405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	2.233000	0.42672	-1.185000	0.06085	-2.838000	0.00176	0.943000	0.32764	0.000000	0.08366	0.035000	0.13729	0.5906:0.2044:0.0:0.205	3.335	0.06682	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2441.33	37	chrX	103500110	.	C	A	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.66;DP=809;ExcessHet=0;FS=10.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.16;MQRankSum=-12.33;QD=13.79;ReadPosRankSum=-2.126;SOR=1.433	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	18	0	1	0
chrX	103586288	103586288	G	T	exonic	TCEAL4	.	nonsynonymous SNV	TCEAL4:NM_001300901:exon4:c.G389T:p.R130L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00582781	0.0019	0	0	0.0426	0	0	0.0087	0.0007	0.0004657	72	154602	rs187636747	0.0006	0.0006	0.0006	0.0006	0.0190	0.0006	0.0005	0.0176	0.0171	0	0	0	0.0190	0	0	2.807e-05	0.0014	0.0004	0.0010	0.0010	0.0010	0.0009	0.0277	0.0008	0.0008	0.0233	0.0216	3.213e-05	0	0.0003	0	0.0277	0	0	3.754e-05	0.0026	0.0007	0.106	0.29688	T	0.231	0.25061	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.76	0.25996	T	-0.55	0.16799	N	0.03	0.00717	-1.0908	0.05400	T	0.038	0.16246	T	6	0.003612101	0.00066	T	.	.	.	0.029	0.06676	.	.	0.0675242888579	0.06100	0.006713640950517561	0.00638	.	.	.	.	.	.	.	.	-0.82687	0.00004	T	-0.940246	0.00294	T	0.017925383692543	0.00518	T	0.363764	0.08432	T	.	.	.	.	.	.	.	.	-3.9	0.22303	T	.	.	0.198	0.42037	B	.	.	0.904126	0.12780	9.299	0.986066461782514	0.43585	0.06202	0.12188	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999798448405	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.49	1.71	0.23429	0.815000	0.26910	0.727000	0.21057	-0.128000	0.13240	0.724000	0.28861	0.172000	0.23351	0.061000	0.16044	0.2773:0.0:0.7227:0.0	5.304	0.15104	428	0.80967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	487.33	35	chrX	103586288	.	G	T	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.295;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.24;SOR=0.542	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	18	0	1	0
chrX	105219566	105219566	T	C	exonic	TEX13A	.	nonsynonymous SNV	TEX13A:NM_001291277:exon3:c.A628G:p.M210V,TEX13A:NM_031274:exon3:c.A628G:p.M210V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0011478810771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-05	1.366e-05	1.635e-05	8.285e-06	1.782e-05	8.22e-06	6.51e-06	1.07e-05	8.48e-06	0	0	0	0	0	0	1.782e-05	0	0	9.023e-06	8.712e-06	0	3.022e-05	1.896e-05	0	0	.	.	0	0	0	0	0	0	0	1.896e-05	0	0	.	.	.	0.261	0.22962	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999997	0.08975	N	1.1	0.28011	L	.	.	.	.	.	.	0.136	0.13341	-1.0060	0.28156	T	0.034	0.14552	T	8	0.063596964	0.08309	T	0.001148	0.01434	T	.	.	0.219	0.14078	0.0846915920261	0.08053	0.04272847654102902	0.04217	.	.	0.392395079136	0.24006	T	0.011306	0.10105	T	-0.508059	0.00515	T	-0.967568	0.00212	T	0.028430521356125	0.01751	T	0.285071	0.05059	T	0.2020727	0.42240	0.29820147	0.55853	0.2020727	0.42240	0.29820147	0.55853	-1.205	0.01258	T	.	.	0.068	0.02861	B	.;.	.;.	-0.381366	0.02283	0.238	0.32130997492312152	0.01846	0.02139	0.06303	N	AEFDI	.	.	.	.	.	.	.	.	.	1.1934965723927E-4	0.05269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	-1.05	0.09523	0.006000	0.13051	-0.331000	0.09890	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4729:0.0:0.5271	3.393	0.06873	17	0.98681	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1169.33	60	chrX	105219566	.	T	C	1169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.398;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.27;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	18	0	1	0
chrX	105944013	105944013	A	C	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon24:c.A4031C:p.K1344T	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.28145448509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.878e-06	2.739e-06	2.755e-06	3.159e-06	.	7.7e-07	2.1e-07	.	.	0	0	0	0	0	0	0	6.775e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.983	0.60381	D	0.874	0.62049	P	0.001948	0.37596	N	0.121200	0.607983	0.32596	D	2.455	0.71248	M	3.58	0.04594	T	-5.21	0.83763	D	0.308	0.34767	-1.1969	0.00174	T	0.040	0.17319	T	10	0.5968519	0.66690	D	0.281454	0.90245	D	0.305	0.62620	0.539	0.65018	0.38058745637	0.37675	0.43157515873940283	0.43074	.	.	0.603740394115	0.53432	T	0.302663	0.67505	T	-0.13085	0.31359	T	-0.425734	0.30421	T	0.994605123996735	0.85995	D	0.788221	0.42759	T	0.8328539	0.86102	0.83097255	0.90248	0.8328539	0.86103	0.83097255	0.90248	-7.058	0.54456	T	.	.	0.331	0.55313	B	.	.	4.039999	0.59810	24.1	0.99775441254251618	0.86260	0.97751	0.76869	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.975303598970838	0.29621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.44	5.44	0.79348	7.413000	0.79318	9.210000	0.79232	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	13.613	0.61562	37	0.98026	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1603.33	46	chrX	105944013	.	A	C	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.346;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.333;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	18	0	1	0
chrX	106840144	106840144	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon9:c.G1450A:p.V484I,TBC1D8B:NM_198881:exon9:c.G1450A:p.V484I	.	436	1084	1	1	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.164955596577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.358	0.19246	T	0.048	0.22112	B	0.025	0.20508	B	0.000007	0.62929	D	0.063715	0.992838	0.41757	D	2.54	0.74080	M	3.65	0.04267	T	-0.42	0.14588	N	0.217	0.24260	-1.0333	0.19395	T	0.019	0.08079	T	10	0.33206168	0.50418	T	0.164956	0.84394	D	0.141	0.37795	0.669	0.80703	0.381916209588	0.37799	0.30529884893706755	0.30442	0.0983695897329	0.11110	0.556555747986	0.46781	T	0.082078	0.36744	T	-0.457016	0.01026	T	-0.894248	0.00544	T	0.829409837722778	0.48484	D	0.943306	0.78595	D	0.14428677	0.33126	0.1512248	0.35631	0.14428677	0.33126	0.1512248	0.35630	-4.911	0.35858	T	.	.	0.089	0.15654	B	.;.;.	.;.;.	2.191732	0.27947	17.63	0.99093620409150718	0.52272	0.93207	0.57605	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0794417942119575	0.15817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.99	0.65942	4.626000	0.60968	8.524000	0.77433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.8494:0.1506	14.077	0.64418	327	0.86637	Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1905.33	33	chrX	106840144	.	G	A	1905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.403;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.524;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1407	18	0	1	0
chrX	106869505	106869505	A	T	exonic	TBC1D8B	.	stopgain	TBC1D8B:NM_017752:exon19:c.A2833T:p.K945X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284937	0.14876	N	0.635593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366207	0.87718	D	0.288255	0.87560	D	0.778249050167191	0.44941	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.239318	0.96303	35	0.98290743903168665	0.39945	0.38204	0.25935	N	AEFI	.	.	.	.	.	.	.	.	.	0.762507926143458	0.23534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	4.59	0.56297	1.443000	0.34668	6.015000	0.52706	0.756000	0.94297	0.914000	0.31788	1.000000	0.68203	0.963000	0.52385	0.7156:0.2844:0.0:0.0	7.886	0.28814	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1985.77	35	chrX	106869505	.	A	T	1985.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.4;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-1.006;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,38:65:99:915,0,525	17	1	1	0
chrX	107603267	107603267	A	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.A5327G:p.Q1776R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00613881066398	.	.	0.0003	0	0	0	0	0	0.0069	0.0005	4.53e-05	7	154602	rs781343440	3.512e-05	3.369e-05	1.411e-05	7.833e-05	0.0006	2.591e-05	2.262e-05	0.0004	0.0004	0	0	0	0	0	0.0005	0	9.013e-05	0.0006	3.515e-05	4.345e-05	0	0.0001	0.0014	1.121e-05	6.53e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.01	0.66756	D	.	.	.	.	.	.	0.000059	0.00414	U	574.344000	0.999997	0.08975	N	0.895	0.22405	L	0.98	0.42122	T	-0.13	0.08971	N	0.092	0.07125	-1.0169	0.24722	T	0.062	0.25780	T	8	0.049156427	0.04465	T	0.006139	0.16082	T	0.072	0.21020	0.16	0.06396	0.428492896387	0.42465	0.4165372304185736	0.41569	0.119126602594	0.13412	.	.	.	0.001738	0.06148	T	-0.264789	0.12344	T	-0.618128	0.11331	T	0.112974512171542	0.13729	T	0.432057	0.11757	T	0.30421612	0.53280	0.26090363	0.51860	0.30421612	0.53280	0.26090363	0.51860	-5.815	0.44705	T	.	.	0.098	0.17530	B	.;.	.;.	1.672161	0.21320	15.15	0.98682579130502635	0.44638	0.82813	0.41991	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.984275482092235	0.30691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.21	1.91	0.24841	0.926000	0.28405	-0.066000	0.12360	0.736000	0.85976	0.991000	0.37257	0.951000	0.29025	0.995000	0.73285	0.7293:0.2707:0.0:0.0	5.776	0.17547	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1745.33	36	chrX	107603267	.	A	G	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.103;DP=860;ExcessHet=0;FS=1.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.41;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1442	18	0	1	0
chrX	107794347	107794347	A	G	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.A127G:p.M43V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00189970518841	.	.	2.467e-05	0	0	0.0003	0	0	0	0	3.84e-05	1	26028	rs760967552	4.382e-06	4.371e-06	7.003e-06	0	3.679e-05	7.3e-07	2.7e-07	.	.	0	2.91e-05	0	3.679e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000006	0.62929	N	0.062472	0.998145	0.22327	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-0.9128	0.46505	T	0.006	0.02206	T	7	0.10907659	0.20333	T	0.002	0.03351	T	.	.	.	.	0.0846915920261	0.08053	0.15213580619615577	0.15135	0.0305707374998	0.03161	.	.	.	0.058358	0.30821	T	-0.498212	0.00585	T	-0.693744	0.06175	T	0.107779964804649	0.13192	T	0.842116	0.51841	T	0.0733858	0.16395	0.07099343	0.15149	0.0733858	0.16394	0.07099343	0.15149	0.96	0.00137	T	.	.	0.043	0.00032	B	.;.	.;.	-0.639946	0.01466	0.090	0.40524731839358846	0.02865	0.04639	0.10307	N	AEFBI	.	.	.	.	.	.	.	.	.	0.333494144276928	0.19510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	2.15	0.26590	4.485000	0.60009	0.587000	0.19777	-0.870000	0.02561	1.000000	0.71638	0.007000	0.19602	0.001000	0.02609	0.1865:0.1576:0.656:0.0	6.010	0.18794	13	0.98894	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2841.33	106	chrX	107794347	.	A	G	2841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.21;DP=1016;ExcessHet=0;FS=1.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.454;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1349	18	0	1	0
chrX	107926815	107926815	C	A	exonic	MID2	.	nonsynonymous SNV	MID2:NM_001382751:exon10:c.C1890A:p.H630Q,MID2:NM_001382752:exon10:c.C1800A:p.H600Q,MID2:NM_012216:exon10:c.C1950A:p.H650Q,MID2:NM_052817:exon10:c.C1860A:p.H620Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0118986604158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.197e-06	8.195e-06	6.807e-06	1.101e-05	1.069e-05	3.86e-06	2.79e-06	5.03e-06	3.64e-06	0	0	0	0	0	0	1.069e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.07645	T	0.734	0.05090	T	0.001	0.07471	B	0.021	0.19346	B	0.000008	0.62929	N	0.113920	0.997345	0.22697	N	0.25	0.09762	N	-0.25	0.67011	T	-0.56	0.17003	N	0.126	0.13484	-1.0221	0.23031	T	0.131	0.44188	T	10	0.052693903	0.05345	T	0.011899	0.29978	T	0.070	0.20419	0.396	0.42262	0.324576393752	0.32066	0.08305584928407009	0.08240	0.447635886102	0.44616	0.600884258747	0.53029	T	0.074195	0.34879	T	-0.311369	0.07628	T	-0.685036	0.06681	T	0.13075689971447	0.15451	T	0.510949	0.16331	T	0.093533695	0.21971	0.08991652	0.21057	0.093533695	0.21970	0.08991652	0.21056	-3.095	0.11239	T	0.21823457231862087	0.29383	0.068	0.02733	B	.;.	.;.	0.782629	0.11529	8.126	0.86750317240144292	0.16747	0.72510	0.35488	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00344841324998774	0.10119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.37	1.65	0.23015	0.956000	0.28799	2.246000	0.31650	-0.125000	0.13442	0.754000	0.29177	0.994000	0.32194	0.965000	0.52897	0.2525:0.139:0.6085:0.0	5.747	0.17396	14	0.98855	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM1, PRY/SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2825.81	33	chrX	107926815	.	C	A	2825.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1320	18	1	0	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.1579	11282.4	48	chrX	107981733	.	G	C	11282.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.86;DP=1207;ExcessHet=0.0015;FS=1.134;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.359;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	15	2	2	0
chrX	108077292	108077297	GAGCCA	-	exonic	VSIG1	.	nonframeshift deletion	VSIG1:NM_182607:exon7:c.1075_1080del:p.P366_E367del,VSIG1:NM_001170553:exon8:c.1183_1188del:p.P402_E403del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28e-05	0	0	0.0002	0	2.085e-05	0	0	3.84e-05	1	26028	rs769798745	1.548e-05	1.548e-05	1.225e-05	2.2e-05	0.0002	9.43e-06	7.71e-06	7.01e-06	5.12e-06	0	0	0	0	0	0.0002	1.306e-05	6.508e-05	3.694e-05	8.923e-06	8.706e-06	1.285e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1961.29	36	chrX	108077291	.	GGAGCCA	G	1961.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=761;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.61;ReadPosRankSum=1.31;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chrX	108157028	108157028	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287760:exon43:c.G4874A:p.R1625H,COL4A6:NM_001287759:exon44:c.G4973A:p.R1658H,COL4A6:NM_001847:exon45:c.G5048A:p.R1683H,COL4A6:NM_033641:exon45:c.G5045A:p.R1682H,COL4A6:NM_001287758:exon46:c.G5096A:p.R1699H	.	.	.	.	.	.	.	.	.	.	.	3306126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.921	0.52343878636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282722908	1.002e-05	1.002e-05	8.168e-06	1.377e-05	5.55e-05	5.38e-06	3.93e-06	1.473e-05	7.08e-06	0	0	0	0	0	0	9.502e-06	0	5.55e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.84481	D	0.001258	0.39669	N	0.000000	0.999925	0.51308	D	4.33	0.98384	H	-4.35	0.97292	D	-4.76	0.81030	D	0.587	0.60749	1.087	0.99127	D	0.969	0.99017	D	10	0.7830559	0.78016	D	0.523439	0.95481	D	0.921	0.98003	0.814	0.92925	0.998086811313	0.99806	0.948990532221012	0.94882	0.224029212685	0.24927	0.627158820629	0.56742	T	0.848552	0.96531	D	0.684831	0.99919	D	0.745936	0.99919	D	0.981032073497772	0.73684	D	0.979802	0.93081	D	0.82646483	0.85658	0.74229556	0.84767	0.82646483	0.85660	0.74229556	0.84768	-8.641	0.65359	D	.	.	0.567	0.74608	P	.;.;.;.;.;.	.;.;.;.;.;.	4.140339	0.62030	24.4	0.99885430939548892	0.96049	0.95471	0.64853	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999773896634548	0.42865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	4.99	0.65942	4.950000	0.63305	3.121000	0.36400	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	18.060	0.89300	96	0.96030	.;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2471.33	34	chrX	108157028	.	C	T	2471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.534;DP=864;ExcessHet=0;FS=4.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.841;SOR=1.015	GT:AD:DP:GQ:PL	0/1:118,98:216:99:2485,0,2916	18	0	1	0
chrX	108180571	108180571	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287759:exon25:c.G2075A:p.S692N,COL4A6:NM_001287760:exon25:c.G2075A:p.S692N,COL4A6:NM_001847:exon25:c.G2078A:p.S693N,COL4A6:NM_033641:exon25:c.G2075A:p.S692N,COL4A6:NM_001287758:exon26:c.G2126A:p.S709N	.	0	1519	3	0	0	3	0.000986518	.	.	.	2883341	not_specified|COL4A6-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.309	0.0658814491603	.	0.000529801	0.0003	0	0.0001	0	0	0	0.0018	0.0025	0.0002717	42	154602	rs767702464	0.0001	0.0001	7.358e-05	0.0002	0.0021	0.0001	9.399e-05	0.0018	0.0016	0	0	0	0	0	0.0007	3.567e-06	0.0003	0.0021	8.011e-05	7.828e-05	7.709e-05	8.692e-05	0.0034	4.16e-05	3.121e-05	0.0018	0.0013	0	0	0	0	0	0	0	0	0	0.0034	0.499	0.07772	T	0.529	0.10465	T	0.866	0.57185	P	0.56	0.62632	P	0.545252	0.05337	N	1.282630	1	0.08975	N	0.38	0.12130	N	-3.24	0.93474	D	0.18	0.05405	N	0.094	0.11769	-0.0170	0.81901	T	0.731	0.90797	D	10	0.019208223	0.00426	T	0.065881	0.69711	D	0.309	0.63055	0.375	0.38830	0.721623398466	0.71916	0.042782885898193554	0.04223	0.26402591037	0.28955	0.274437248707	0.06728	T	0.274158	0.64664	T	-0.602142	0.00141	T	-0.644187	0.09366	T	0.0649606020987946	0.07925	T	0.752925	0.40135	T	0.054772984	0.10556	0.096958965	0.23058	0.054772984	0.10555	0.096958965	0.23058	-4.87	0.35453	T	.	.	0.071	0.06387	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.893195	0.00013	0.001	0.67972836734700004	0.08516	0.00457	0.02207	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999272070969	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	-6.82	0.01537	-2.735000	0.00873	-14.122000	0.00420	-0.831000	0.02872	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.1032:0.0929:0.8039	15.020	0.71282	99	0.95913	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	40	chrX	108180571	.	C	T	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.651;DP=770;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.995;SOR=0.607	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	18	0	1	0
chrX	108196535	108196543	TCCCTTTTC	-	exonic	COL4A6	.	nonframeshift deletion	COL4A6:NM_001287758:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001287759:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001287760:exon14:c.871_879del:p.E291_G293del,COL4A6:NM_001847:exon14:c.874_882del:p.E292_G294del,COL4A6:NM_033641:exon14:c.871_879del:p.E291_G293del	.	0	1520	1	1	0	3	0.000985869	.	.	.	706053	not_provided|Hearing_loss,_X-linked_6	MedGen:C3661900|MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0019	0.0010596	0.0014	0.0014	0.0015	0.0005	0	0.0013	0	0.0030	0.0001153	3	26028	rs775824038	0.0020	0.0021	0.0020	0.0020	0.0029	0.0019	0.0019	0.0025	0.0024	0.0006	0.0013	0	0.0004	2.472e-05	0.0002	0.0022	0.0019	0.0029	0.0015	0.0015	0.0015	0.0014	0.0019	0.0013	0.0012	0.0016	0.0015	0.0011	0	0.0019	0	0.0014	0	0	0.0019	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1340.29	34	chrX	108196534	.	TTCCCTTTTC	T	1340.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.021;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	18	0	1	0
chrX	108539753	108539753	A	G	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon2:c.A89G:p.Y30C	Alport syndrome, X-linked dominant	3	1514	1	4	0	9	0.00296345	.	.	YES	490707	COL4A5-related_disorder|not_provided|X-linked_Alport_syndrome	.|MedGen:C3661900|MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.0448715914512	0.0002	0.000794702	0.0003	0.0002	0	0	0	0.0001	0.0063	0.0017	0.0003363	52	154602	rs150305490	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	7.593e-05	0	0	0	2.472e-05	0.0007	7.863e-05	0.0003	0.0016	0.0001	0.0002	0.0001	0.0002	0.0023	8.277e-05	6.698e-05	0.0010	0.0007	3.26e-05	0	0	0	0	0.0002	0	9.427e-05	0.0013	0.0023	0.199	0.20456	T	0.205	0.28764	T	0.876	0.48154	P	0.221	0.37837	B	0.005115	0.33089	N	0.277370	0.876412	0.28123	N	0	0.06538	N	-2.74	0.90735	D	-1.35	0.33598	N	0.247	0.36884	-0.3563	0.73371	T	0.415	0.76238	T	10	0.018241912	0.00395	T	0.044872	0.61705	D	0.447	0.74866	.	.	0.794805502844	0.79289	0.8085143166290777	0.80806	0.372809165298	0.38767	0.427643716335	0.28887	T	0.121208	0.44400	T	-0.239941	0.15356	T	-0.162987	0.58083	T	0.036849917514546	0.03130	T	0.439856	0.13899	T	0.18523066	0.39877	0.16858834	0.38830	0.18523066	0.39876	0.16858834	0.38829	-2.197	0.04026	T	0.05981553240615715	0.01601	0.158	0.41249	B	.;.	.;.	2.401169	0.30846	18.56	0.97875648772626256	0.36567	0.86709	0.46048	D	AEFI	.	.	.	.	.	.	.	.	.	0.987719066638368	0.31327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.12	5.12	0.69459	2.022000	0.40651	7.823000	0.69822	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.467	0.43802	235	0.90838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	33	chrX	108539753	.	A	G	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.125;SOR=0.606	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	18	0	1	0
chrX	108733343	108733343	G	C	exonic	IRS4	.	nonsynonymous SNV	IRS4:NM_001379150:exon1:c.C3002G:p.P1001R,IRS4:NM_003604:exon1:c.C3002G:p.P1001R	.	419	1097	2	4	0	10	0.00453721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.216073712399	9.5e-05	0.000794702	0.0002	0	0	0	0	2.084e-05	0.0016	0.0012	0.0001682	26	154602	rs146350531	9.926e-05	9.925e-05	8.439e-05	0.0001	0.0015	8.405e-05	7.816e-05	0.0013	0.0012	0	2.84e-05	0	0	0	0.0010	1.306e-05	0.0002	0.0015	7.143e-05	9.568e-05	5.139e-05	0.0001	0.0026	3.466e-05	2.514e-05	0.0012	0.0009	0	0	0	0	0	0	0	0	0.0007	0.0026	0.018	0.50676	D	0.027	0.55341	D	0.003	0.11197	B	0.002	0.06944	B	0.794245	0.09373	N	0.894418	1	0.08975	N	0.975	0.24501	L	1.42	0.33189	T	-1.92	0.44657	N	0.029	0.00666	-1.0029	0.29080	T	0.050	0.21417	T	10	0.008463979	0.00192	T	0.216074	0.87540	D	0.049	0.13647	.	.	0.102598925029	0.09809	0.4129605071794875	0.41212	0.523465658131	0.50055	0.372723579407	0.21222	T	0.348317	0.71632	T	-0.712467	0.00031	T	-0.846627	0.01004	T	0.0450926078186567	0.04619	T	0.50435	0.15896	T	0.06619691	0.14220	0.1505559	0.35501	0.06619691	0.14219	0.1505559	0.35500	-5.605	0.42838	T	.	.	0.086	0.10787	B	.	.	1.455588	0.18774	13.92	0.99049293460451959	0.51207	0.52413	0.29126	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999817001463895	0.43459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	1.9	0.24770	2.618000	0.46058	1.696000	0.28101	0.671000	0.69459	0.995000	0.38783	0.656000	0.25990	0.398000	0.26737	0.0878:0.2742:0.6379:0.0	8.508	0.32358	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	43	chrX	108733343	.	G	C	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.862;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.708;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chrX	109409060	109409060	T	C	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon9:c.A1900G:p.I634V	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.10111029552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897483162	1.003e-06	2.743e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.335e-05	0	8.916e-06	8.701e-06	1.285e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.32	0.13566	T	0.481	0.11864	T	0.097	0.25541	B	0.257	0.39298	B	0.000005	0.62929	D	0.063176	0.556772	0.31290	N	0.33	0.10399	N	-1.59	0.82076	D	-0.92	0.24676	N	0.277	0.31365	-0.6609	0.62236	T	0.263	0.63372	T	10	0.34920254	0.51818	T	0.10111	0.77379	D	0.229	0.52916	0.616	0.75000	0.722721478605	0.72027	0.4736693689751208	0.47285	0.472542371218	0.46495	0.460184276104	0.33336	T	0.182717	0.53483	T	-0.129933	0.31506	T	-0.424416	0.30571	T	0.529239654541016	0.33706	D	0.940606	0.77652	D	0.27620864	0.50682	0.14576554	0.34559	0.27620864	0.50682	0.14576554	0.34559	-3.149	0.11867	T	.	.	0.196	0.41738	B	.	.	2.684290	0.35026	19.79	0.98664216578826136	0.44372	0.88574	0.48565	D	AEFI	.	.	.	.	.	.	.	.	.	0.00597955320572845	0.11094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	2.822000	0.47773	1.663000	0.27911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2204:0.0:0.0:0.7795	6.423	0.20956	410	0.82135	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3810.81	34	chrX	109409060	.	T	C	3810.81	.	AC=2;AF=0.053;AN=38;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.54;SOR=0.84	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	1	0	0
chrX	109475240	109475240	G	A	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	0.514224395637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970540009	2.738e-06	2.732e-06	1.362e-06	5.536e-06	0.0005	7.3e-07	2e-07	8.564e-05	3.564e-05	0	0	0	0	0	0.0005	0	0	1.856e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	0.873	0.47975	P	0.616	0.51268	P	0.000036	0.55875	D	0.072732	1	0.81001	D	2.3	0.65703	M	-1.71	0.83157	D	-2.74	0.58248	D	0.251	0.28381	0.328	0.88002	D	0.607	0.86076	D	10	0.537614	0.63537	D	0.514224	0.95348	D	0.616	0.85039	0.743	0.87486	0.768943048965	0.76683	0.41367266245572304	0.41283	0.542254681767	0.51335	0.417810738087	0.27537	T	0.349329	0.71719	T	0.0551934	0.59008	T	-0.158495	0.58488	T	0.979092061519623	0.72655	D	0.660634	0.26999	T	0.5412165	0.69464	0.4470237	0.67796	0.5412165	0.69465	0.4470237	0.67796	-5.927	0.45664	T	.	.	0.221	0.45174	B	.	.	3.597323	0.50793	23.0	0.99881723928170874	0.95733	0.97511	0.75225	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	4.79	0.60909	4.219000	0.58357	6.484000	0.55744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	14.393	0.66561	175	0.93230	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2552.81	33	chrX	109475240	.	G	A	2552.81	.	AC=2;AF=0.053;AN=38;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.73;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	18	1	0	0
chrX	112790764	112790764	G	A	exonic	AMOT	.	nonsynonymous SNV	AMOT:NM_001113490:exon7:c.C1945T:p.P649S,AMOT:NM_133265:exon8:c.C718T:p.P240S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.142890131019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.732e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.13349	T	0.8	0.10750	T	0.022	0.18677	B	0.015	0.17295	B	0.000344	0.45440	D	0.262605	0.814389	0.34686	D	-0.715	0.01801	N	2.38	0.20255	T	-1.52	0.36980	N	0.048	0.02179	-1.0266	0.21560	T	0.021	0.09009	T	10	0.09905237	0.17951	T	0.14289	0.82524	D	0.068	0.19811	0.114	0.02306	0.332276917938	0.32835	0.1357892577833818	0.13502	0.310463610518	0.33361	0.360307365656	0.19431	T	0.03434	0.23282	T	-0.4421	0.01257	T	-0.872823	0.00716	T	0.396386086940765	0.28806	T	0.806819	0.47234	T	0.112610966	0.26602	0.15898158	0.37099	0.112610966	0.26602	0.15898158	0.37098	-8.736	0.65981	D	0.08491375776102549	0.04735	0.082	0.08802	B	.;.;.;.;.	.;.;.;.;.	2.412707	0.31014	18.61	0.99477297305493873	0.66687	0.91794	0.54277	D	AEFBI	.	.	.	.	.	.	.	.	.	0.834320389041121	0.24750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.08	5.18	0.71140	0.932000	0.28484	7.307000	0.58111	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.134000	0.19723	0.0915:0.2061:0.7024:0.0	9.047	0.35516	877	0.30165	Angiomotin, C-terminal;.;Angiomotin, C-terminal;Angiomotin, C-terminal;Angiomotin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	788.33	34	chrX	112790764	.	G	A	788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.042;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.005;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	18	0	1	0
chrX	115189832	115189832	C	T	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.C391T:p.R131C	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000768873293039	.	.	0.0001	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs782457452	8.549e-06	9.105e-06	5.647e-06	1.452e-05	0.0002	4.02e-06	2.91e-06	6.65e-06	2.49e-06	4.014e-05	0	0	0	0	0.0002	4.881e-06	2.254e-05	4.011e-05	6.168e-05	6.085e-05	6.422e-05	5.613e-05	0.0001	2.859e-05	2.044e-05	4.267e-05	2.597e-05	0.0001	0	9.196e-05	0	0	0	0.0046	1.873e-05	0	0	0.068	0.35726	T	0.197	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.66	0.04228	T	-1.42	0.34992	N	0.104	0.08786	-0.9360	0.43241	T	0.007	0.02244	T	9	0.047072053	0.03978	T	7.69E-4	0.00568	T	0.027	0.05988	.	.	0.0297737177859	0.01360	0.20780670028580128	0.20696	.	.	0.330996155739	0.15085	T	0.07233	0.34428	T	-0.658471	0.00064	T	-0.998352	0.00142	T	0.0394963994573468	0.03599	T	0.377862	0.09067	T	0.06620185	0.14223	0.07488705	0.16428	0.06620185	0.14223	0.07488705	0.16428	-5.43	0.41207	T	.	.	0.269	0.50324	B	.	.	0.046681	0.04612	1.281	0.95749103356766185	0.27718	0.00185	0.01079	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0127847749972568	0.12374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	-1.23	0.08977	-1.706000	0.01995	0.452000	0.18532	-3.002000	0.00141	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4895:0.2772:0.2334	3.958	0.08894	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1415.33	39	chrX	115189832	.	C	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=902;ExcessHet=0;FS=2.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.58;SOR=0.962	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1227	18	0	1	0
chrX	116446810	116446810	G	C	exonic	SLC6A14	.	nonsynonymous SNV	SLC6A14:NM_007231:exon7:c.G859C:p.E287Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0763836950307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.152e-07	9.106e-07	1.362e-06	0	1.194e-06	0	0	.	.	0	0	0	0	0	0	1.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.98	0.59353	D	0.926	0.66095	D	0.000002	0.62929	D	0.098710	0.999715	0.48481	D	3.175	0.88760	M	-0.94	0.75325	T	.	.	.	0.243	0.27435	0.256	0.86846	D	0.581	0.84911	D	10	0.63529855	0.68747	D	0.076384	0.72517	D	.	.	0.686	0.82367	0.925039501145	0.92427	0.45431562599555975	0.45349	.	.	0.404104053974	0.25640	T	0.085238	0.37458	T	-0.0102069	0.50238	T	-0.252438	0.49575	T	0.979535043239594	0.72881	D	0.939806	0.77272	D	0.49382678	0.66730	0.5580165	0.74432	0.49382678	0.66731	0.5580165	0.74433	-7.252	0.55854	T	.	.	0.154	0.34004	B	.	.	3.620842	0.51243	23.1	0.9972413705916906	0.82266	0.97130	0.72865	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999986217076	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	3.775000	0.55055	6.376000	0.55533	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	15.851	0.78709	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	698.81	34	chrX	116446810	.	G	C	698.81	.	AC=2;AF=0.053;AN=38;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.38;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1333	18	1	0	0
chrX	118628226	118628226	C	A	exonic	DOCK11	.	nonsynonymous SNV	DOCK11:NM_144658:exon34:c.C3728A:p.P1243Q	.	.	.	.	.	.	.	.	.	.	.	3237767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.206642429886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1040916295	3.657e-06	4.553e-06	4.085e-06	2.783e-06	0.0005	8.6e-07	5.8e-07	8.589e-05	3.574e-05	0	0	0	0	0	0.0005	2.385e-06	0	0	8.95e-06	8.712e-06	1.285e-05	0	1.882e-05	0	0	.	.	0	0	0	0	0	0	0	1.882e-05	0	0	0.051	0.39575	T	0.03	0.54159	D	0.017	0.17573	B	0.053	0.25678	B	0.551355	0.11432	N	0.820298	0.836284	0.28692	N	0	0.06538	N	2.28	0.17271	T	-0.03	0.07444	N	0.322	0.36254	-1.0497	0.14481	T	0.026	0.10998	T	10	0.17654565	0.32644	T	0.206642	0.87050	D	0.052	0.14661	0.243	0.17677	0.138757226776	0.13463	0.4968939569478353	0.49610	0.340037095638	0.35948	0.370239526033	0.20867	T	0.007172	0.08911	T	-0.304394	0.08252	T	-0.675017	0.07291	T	0.384547908629898	0.28357	T	0.885311	0.61048	D	0.09871695	0.23288	0.17905541	0.40615	0.09871695	0.23288	0.17905541	0.40614	-3.42	0.15327	T	.	.	0.100	0.18456	B	.;.;.	.;.;.	3.131538	0.42320	21.5	0.96983826656238459	0.31871	0.96884	0.71464	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.924902800968291	0.26796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.48	5.48	0.80675	2.728000	0.46990	5.877000	0.50600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9132:0.0:0.0868	11.053	0.47119	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	33	chrX	118628226	.	C	A	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.461;DP=599;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.058;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1128	18	0	1	0
chrX	119470513	119470513	-	CTGACCTCATGTACACAGGCATGCTTGACT	exonic	SLC25A5	.	nonframeshift insertion	SLC25A5:NM_001152:exon3:c.739_740insCTGACCTCATGTACACAGGCATGCTTGACT:p.D248_I249insLMYTGMLDSD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375901063	8.27e-06	0.0004	1.232e-05	0	6.745e-05	3.89e-06	2.82e-06	1.117e-05	4.18e-06	0	5.776e-05	0	6.745e-05	0	0	4.783e-06	0	1.887e-05	0.0001	0.0023	0.0002	0	0.0002	8.378e-05	6.778e-05	7.562e-05	5.535e-05	0.0001	0	9.542e-05	0.0008	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	88.29	85	chrX	119470513	.	A	ACTGACCTCATGTACACAGGCATGCTTGACT	88.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=1412;ExcessHet=0;FS=6.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.75;MQRankSum=-8.99;QD=0.64;ReadPosRankSum=-2.886;SOR=1.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0:71:99:.:.:0,120,1800:.	18	0	1	0
chrX	119590450	119590450	G	A	exonic	NKRF	.	unknown	UNKNOWN	.	441	1059	13	9	0	31	0.0144253	.	.	.	743121	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0008	0.0013245	0.0027	0.0001	0.0001	0.0003	0.0007	0.0028	0.0047	0.0090	0.0024773	383	154602	rs2233498	0.0016	0.0016	0.0014	0.0021	0.0097	0.0015	0.0015	0.0087	0.0085	0.0001	0.0003	0.0003	3.312e-05	0.0005	0.0097	0.0013	0.0018	0.0094	0.0010	0.0010	0.0009	0.0012	0.0068	0.0008	0.0008	0.0044	0.0036	0.0002	0	0.0003	0.0004	0.0003	0.0002	0.0091	0.0015	0.0007	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.010345	0.000000	0.011132	0.011858	0.000000	0.000000	0.004425	0.026316	0.07895	4083.77	34	chrX	119590450	.	G	A	4083.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.42;DP=813;ExcessHet=0;FS=1.735;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=-0.259;SOR=0.558	GT:AD:DP:GQ:PL	0/1:81,73:154:99:2043,0,2073	17	1	1	0
chrX	119652909	119652909	G	A	exonic	SEPTIN6	.	nonsynonymous SNV	SEPTIN6:NM_015129:exon4:c.C473T:p.T158M,SEPTIN6:NM_145799:exon4:c.C473T:p.T158M,SEPTIN6:NM_145800:exon4:c.C473T:p.T158M,SEPTIN6:NM_145802:exon4:c.C473T:p.T158M	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.893735365547	9.5e-05	.	3.426e-05	0	0	0	0	4.172e-05	0	9.972e-05	3.23e-05	5	154602	rs145877420	1.458e-05	1.457e-05	1.77e-05	8.264e-06	9.932e-05	8.63e-06	6.98e-06	2.631e-05	1.429e-05	0	0	0	9.932e-05	0	0	9.506e-06	6.511e-05	3.695e-05	2.722e-05	2.612e-05	2.571e-05	3.084e-05	1.895e-05	7.23e-06	3.01e-06	.	.	0	0	0	0	0	0	0	1.895e-05	0.0013	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.24	0.98003	H	1.16	0.38073	T	-5.3	0.84387	D	0.288	0.38541	0.993	0.97073	D	0.844	0.94801	D	10	0.6312527	0.68529	D	0.893735	0.99196	D	0.531	0.80247	.	.	0.732683003388	0.73029	0.7890797514482515	0.78859	1.68067603589	0.89969	0.778617680073	0.78719	T	0.263243	0.90936	T	0.0198926	0.54367	T	-0.0589091	0.66409	T	0.989405691623688	0.79642	D	0.933507	0.75104	D	0.867773	0.88686	0.8899359	0.94262	0.867773	0.88688	0.8899359	0.94263	-11.326	0.81474	D	.	.	0.288	0.53618	B	.;.;.;.;.;.	.;.;.;.;.;.	5.072309	0.84603	28.4	0.99932520889687748	0.99439	0.95732	0.65918	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999955941	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	9.602000	0.97623	8.685000	0.78057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.503	0.87634	124	0.95048	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002066	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.010526	0.02632	1399.33	141	chrX	119652909	.	G	A	1399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=772;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.629;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	18	0	1	0
chrX	120115543	120115543	C	T	exonic	RHOXF1	.	nonsynonymous SNV	RHOXF1:NM_139282:exon1:c.G320A:p.R107H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0615139293582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.642e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.115	0.36630	T	0.824	0.45836	P	0.18	0.35854	B	.	.	.	.	1	0.08975	N	3.175	0.88760	M	-5.51	0.99156	D	-3.34	0.66325	D	0.402	0.44283	0.594	0.91819	D	0.912	0.97076	D	9	0.8326403	0.82424	D	0.061514	0.68356	D	0.487	0.77528	0.814	0.92925	0.933318382152	0.93262	0.6986523913552827	0.69806	0.770489779372	0.64737	0.398795604706	0.24901	T	0.850573	0.96596	D	0.123432	0.66716	D	-0.0604753	0.66300	T	0.924445986747742	0.58562	D	0.587441	0.21491	T	0.08212767	0.18904	0.12177641	0.29379	0.08212767	0.18903	0.12177641	0.29378	-6.778	0.52395	T	.	.	0.374	0.58078	A	.	.	1.257085	0.16543	12.61	0.99712789262564239	0.81493	0.00827	0.03334	N	AEFBI	.	.	.	.	.	.	.	.	.	6.04527906799295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.73	-2.61	0.05811	-0.459000	0.06805	-2.639000	0.03520	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1979:0.2584:0.1937:0.3501	0.293	0.00244	900	0.24599	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	234.33	36	chrX	120115543	.	C	T	234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.687;DP=746;ExcessHet=0;FS=64.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=0.71;SOR=6.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	18	0	1	0
chrX	120626865	120626865	C	T	exonic	C1GALT1C1	.	nonsynonymous SNV	C1GALT1C1:NM_001011551:exon2:c.G302A:p.S101N,C1GALT1C1:NM_152692:exon3:c.G302A:p.S101N	Tn polyagglutination syndrome, somatic	10	1490	14	8	0	30	0.00996678	.	.	.	717622	Polyagglutinable_erythrocyte_syndrome|C1GALT1C1-related_disorder|not_provided	MONDO:MONDO:0010381,MedGen:C0272137,OMIM:300622|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0057	0.00238411	0.0041	0.0008	0.0015	0	0.0007	0.0069	0	0.0003	0.004379	677	154602	rs149340486	0.0077	0.0077	0.0079	0.0072	0.0093	0.0075	0.0075	0.0092	0.0091	0.0016	0.0022	0.0012	0	0.0011	0.0041	0.0093	0.0071	0.0003	0.0048	0.0048	0.0051	0.0041	0.0081	0.0044	0.0043	0.0075	0.0073	0.0009	0.0351	0.0033	0	0	0.0008	0.0046	0.0081	0.0046	0.0004	0.048	0.40068	D	0.059	0.45961	T	0.008	0.14655	B	0.009	0.14300	B	0.000001	0.62929	D	0.130298	0.999629	0.47904	D	3.49	0.92661	M	0.43	0.56772	T	-2.58	0.55662	D	0.178	0.19190	-0.8236	0.53708	T	0.158	0.49076	T	9	0.008848816	0.00200	T	.	.	.	0.193	0.47281	.	.	0.570576466009	0.56723	0.8955911564950547	0.89530	0.279624298018	0.30451	0.508171081543	0.39967	T	0.67301	0.90316	D	-0.366157	0.03793	T	-0.28934	0.45842	T	0.0655921408888284	0.08019	T	0.644436	0.25592	T	0.72403914	0.79387	0.5639716	0.74766	0.6902045	0.77524	0.5337955	0.73061	-6.738	0.52096	T	.	.	0.863	0.80677	P	.;.	.;.	3.036818	0.40699	21.2	0.98940314956850728	0.48921	0.95638	0.65526	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999983758341	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	5.32	0.75377	4.701000	0.61496	6.010000	0.52630	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.708	0.85234	937	0.14592	.;.	LAMP2|TMEM255A	Adrenal_Gland|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.005510	0.006803	0.003711	0.007905	0.000000	0.000000	0.013274	0.000000	0.05263	6190.81	37	chrX	120626865	.	C	T	6190.81	.	AC=2;AF=0.053;AN=38;DP=869;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.91;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	18	1	0	0
chrX	120874943	120874969	TCCTCTGTGGCCTCCTCTGTGAGCTTC	-	exonic	CT47B1	.	nonframeshift deletion	CT47B1:NM_001145718:exon1:c.702_728del:p.K235_E243del	.	17	1471	27	7	0	41	0.0137446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0005	0.0043	0	0.0056	0.0076	0.0080	0.0024	0.0002689	7	26028	rs771317536	0.0051	0.0052	0.0052	0.0049	0.0188	0.0050	0.0049	0.0152	0.0138	0.0008	0.0040	0.0044	0	0.0069	0.0188	0.0055	0.0057	0.0017	0.0046	0.0046	0.0047	0.0043	0.0074	0.0042	0.0041	0.0068	0.0066	0.0006	0.0190	0.0027	0.0049	0	0.0051	0.0047	0.0074	0.0060	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1531.77	33	chrX	120874942	.	TTCCTCTGTGGCCTCCTCTGTGAGCTTC	T	1531.77	.	AC=2;AF=0.053;AN=38;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.68;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	1	0	0
chrX	120875222	120875222	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G449A:p.R150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000912688391751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465740235	1.823e-06	1.822e-06	0	5.514e-06	3.789e-05	3e-07	1.1e-07	.	.	3.789e-05	0	0	0	0	0	0	0	1.848e-05	1.771e-05	1.742e-05	2.569e-05	0	9.243e-05	2.94e-06	1.1e-06	.	.	3.208e-05	0	9.243e-05	0	0	0	0	0	0	0	0.025	0.47320	D	0.082	0.41573	T	0.997	0.70673	D	0.984	0.76113	D	.	.	.	.	1	0.08975	N	2.24	0.63355	M	.	.	.	-2.18	0.49187	N	0.085	0.06190	-1.0488	0.14733	T	0.119	0.41648	T	8	0.15962264	0.29986	T	9.13E-4	0.00866	T	0.035	0.08770	0.299	0.26522	0.0884992946249	0.08302	0.04518316343411371	0.04462	0.0235261924613	0.02386	0.433502942324	0.29688	T	0.041952	0.26026	T	-0.569937	0.00221	T	-0.864116	0.00800	T	0.914614856243134	0.57133	D	0.584142	0.21248	T	0.055965196	0.10948	0.07019047	0.14883	0.055965196	0.10948	0.07019047	0.14882	-4.207	0.26853	T	.	.	0.112	0.21803	B	.	.	0.669785	0.10384	7.107	0.99853857693315595	0.93279	0.00240	0.01331	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.92667448572943E-4	0.07414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7	1.7	0.23359	-3.601000	0.00467	-20.000000	0.00162	-0.514000	0.04992	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:1.0:0.0:0.0	6.354	0.20594	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2382.33	33	chrX	120875222	.	C	T	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=873;ExcessHet=0;FS=6.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.061;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	18	0	1	0
chrX	120875562	120875562	C	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.G109A:p.D37N	.	140	1364	9	9	0	27	0.00980036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0204394931847	.	0.0010596	0.0024	0.0004	0.0003	0	0.0024	0.0022	0	0.0081	0.0018564	287	154602	rs201496820	0.0022	0.0022	0.0021	0.0025	0.0087	0.0021	0.0021	0.0060	0.0052	0.0003	0.0002	0.0007	3.323e-05	0.0008	0.0087	0.0022	0.0023	0.0059	0.0015	0.0015	0.0015	0.0016	0.0045	0.0013	0.0012	0.0024	0.0019	0.0004	0	0.0003	0.0008	0	0.0004	0.0098	0.0024	0.0035	0.0045	0.409	0.10180	T	0.033	0.53072	D	0.998	0.73220	D	0.982	0.75477	D	0.883443	0.08739	N	0.913390	1	0.08975	N	2.24	0.63355	M	.	.	.	-1.27	0.31981	N	0.029	0.00666	-1.0069	0.27881	T	0.090	0.34491	T	9	0.00861612	0.00195	T	0.020439	0.43035	T	0.043	0.11576	.	.	0.0297737177859	0.01360	0.027698094747085726	0.02719	0.0266164007129	0.02719	0.460752248764	0.33413	T	0.019919	0.15779	T	-0.849463	0.00003	T	-0.989664	0.00160	T	0.0198412439985195	0.00686	T	0.639636	0.25265	T	0.070556395	0.15551	0.05144595	0.08282	0.070556395	0.15550	0.05144595	0.08282	-4.819	0.34812	T	.	.	0.149	0.32992	B	.	.	1.244299	0.16405	12.52	0.99588817944689012	0.73454	0.00117	0.00738	N	AEFBI	.	.	.	.	.	.	.	.	.	2.69833855707022E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.34	0.422	0.15674	0.162000	0.16318	-5.150000	0.01829	0.353000	0.19991	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.5281:0.2863:0.1856	3.056	0.05811	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010679	0.000000	0.001866	0.028571	0.000000	0.035714	0.014493	0.010929	0.02632	131.38	7	chrX	120875562	.	C	T	131.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0305;MLEAC=1;MLEAF=0.026;MQ=45.42;MQRankSum=0.61;QD=7.73;ReadPosRankSum=0.101;SOR=0.26	GT:AD:DP:GQ:PL	0/0:12,0:12:30:0,30,450	18	0	1	0
chrX	124064026	124064026	G	A	exonic	STAG2	.	nonsynonymous SNV	STAG2:NM_001375375:exon19:c.G2000A:p.R667Q,STAG2:NM_006603:exon19:c.G2000A:p.R667Q,STAG2:NM_001042749:exon20:c.G2000A:p.R667Q,STAG2:NM_001042750:exon20:c.G2000A:p.R667Q,STAG2:NM_001042751:exon20:c.G2000A:p.R667Q,STAG2:NM_001282418:exon20:c.G2000A:p.R667Q	.	.	.	.	.	.	.	.	.	.	.	1906394	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.478537818563	9.5e-05	.	1.327e-05	0	0	0	0	2.471e-05	0	0	6.5e-06	1	154602	rs369728409	5.936e-05	6.101e-05	5.31e-05	7.21e-05	9.954e-05	4.771e-05	4.347e-05	4.465e-05	4.022e-05	3.795e-05	0	0	9.954e-05	0	0	5.834e-05	0.0002	5.578e-05	4.495e-05	5.233e-05	1.286e-05	0.0001	9.432e-05	1.714e-05	1.054e-05	3.703e-05	2.398e-05	0	0	0	0	0	0	0	9.432e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.021	0.20732	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.893056	0.35996	D	-0.805	0.01590	N	1.5	0.31205	T	0.52	0.02853	N	0.389	0.46555	-1.0237	0.22508	T	0.028	0.12103	T	10	0.14950576	0.28293	T	0.478538	0.94802	D	0.166	0.42578	.	.	0.359705090764	0.35578	0.3108069459885982	0.30993	1.31460413282	0.83306	0.680814385414	0.64385	T	0.023429	0.17885	T	-0.377508	0.03230	T	-0.590304	0.13640	T	0.130686912643707	0.15445	T	0.915408	0.69775	D	0.43141758	0.62844	0.31683347	0.57661	0.43141758	0.62845	0.31683347	0.57661	-1.556	0.02198	T	0.048994485426612784	0.00784	0.099	0.18746	B	.;.;.;.;.	.;.;.;.;.	3.964647	0.58176	23.9	0.77097105624933393	0.11735	0.40205	0.26385	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999994770195	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5	5.5	0.81386	3.619000	0.53937	9.916000	0.82466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.445	0.90627	924	0.18029	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	940.33	34	chrX	124064026	.	G	A	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.053;DP=594;ExcessHet=0;FS=6.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=0.321;SOR=0.187	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1284	18	0	1	0
chrX	124334728	124334728	G	C	exonic	TEX13D	.	nonsynonymous SNV	TEX13D:NM_001355534:exon1:c.G1811C:p.R604P	.	994	500	14	12	2	40	0.0366089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs112652307	5.142e-05	0.0002	5.115e-05	5.205e-05	5.655e-05	3.849e-05	3.413e-05	3.781e-05	3.355e-05	5.655e-05	0	0.0002	0	6.249e-05	0	5.167e-05	6.029e-05	0	0.0031	0.0096	0.0042	0	0.0065	0.0028	0.0027	0.0056	0.0053	0.0065	0.0126	0.0015	0.0042	0.0003	0	0.0086	0.0022	0.0034	0.0005	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.00856328	0.00194	T	.	.	.	.	.	.	.	.	.	0.01063012315188242	0.01024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176682	0.01716	T	0.14852123	0.33903	0.15160638	0.35705	0.14852123	0.33903	0.15160638	0.35704	3.512	0.00013	T	.	.	0.113	0.22428	B	.	.	-0.722121	0.01270	0.066	0.34077170413393026	0.02065	0.00096	0.00628	N	AEFDHCIJ	.	.	.	.	.	.	.	.	.	0.564762162845724	0.21443	.	.	.	.	.	.	.	.	.	.	.	.	0.0573581	0.13677	2.11	-2.53	0.05959	-1.924000	0.01657	-3.983000	0.02412	-0.302000	0.06182	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3445:0.2185:0.1695:0.2675	0.108	0.00050	962	0.08456	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1275.52	33	chrX	124334728	.	G	C	1275.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=711;ExcessHet=0;FS=9.62;InbreedingCoeff=0.6381;MLEAC=1;MLEAF=0.026;MQ=53.12;MQRankSum=1.87;QD=11.49;ReadPosRankSum=1.29;SOR=1.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	18	0	1	0
chrX	125322110	125322110	A	G	exonic	TEX13C	.	nonsynonymous SNV	TEX13C:NM_001195272:exon1:c.A1991G:p.E664G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199461907	7.576e-06	8.745e-06	7.993e-06	6.859e-06	8.201e-05	2.02e-06	5.6e-07	1.45e-06	5.4e-07	8.201e-05	0	0	0	0	0	8.702e-06	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.128	0.34959	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.07403767	0.11266	T	.	.	.	.	.	.	.	.	.	0.04312264486047229	0.04257	.	.	0.285361558199	0.08251	T	0.003698	0.03111	T	.	.	.	.	.	.	.	.	.	0.218178	0.02774	T	0.03986577	0.05586	0.07827058	0.17516	0.03986577	0.05585	0.07827058	0.17516	-2.795	0.08138	T	.	.	0.069	0.03060	B	.	.	-1.267102	0.00467	0.010	0.66327137777594303	0.08027	0.00009	0.00143	N	AEFI	.	.	.	.	.	.	.	.	.	1.89627300782153E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	1.95	1.06	0.19341	-1.084000	0.03503	-20.000000	0.00162	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4087:0.0:0.5913:0.0	4.216	0.09989	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	546.81	33	chrX	125322110	.	A	G	546.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.984;DP=1090;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.73;MQRankSum=-0.515;QD=32.17;ReadPosRankSum=-1.023;SOR=0.223	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	18	1	0	0
chrX	126820667	126820667	G	A	exonic	PRR32	.	nonsynonymous SNV	PRR32:NM_001122716:exon2:c.G29A:p.G10E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00614455931827	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868288885	8.551e-06	8.195e-06	8.461e-06	8.737e-06	0.0002	4.02e-06	2.91e-06	5.442e-05	3.218e-05	0.0002	0	0	0	0	0	0	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.061	0.45530	T	0.017	0.17573	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.32	0.35219	T	-5.19	0.83625	D	0.099	0.08088	-1.0192	0.23975	T	0.049	0.20987	T	9	0.061819643	0.07811	T	0.006145	0.16082	T	0.021	0.04004	0.38	0.39645	0.167679373172	0.16340	0.0703167748303388	0.06968	.	.	.	.	.	0.041936	0.26020	T	-0.362579	0.03986	T	-0.758596	0.03163	T	0.0626797899603844	0.07585	T	0.475652	0.14239	T	0.31680313	0.54368	0.2570417	0.51414	0.31680313	0.54368	0.2570417	0.51413	-3.617	0.18103	T	.	.	0.149	0.32969	B	.	.	-0.017041	0.04166	1.003	0.73609638207637418	0.10390	0.01272	0.04451	N	AEFI	.	.	.	.	.	.	.	.	.	7.56925031813378E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.24	-3.42	0.04521	-0.281000	0.08489	0.122000	0.14930	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4861:0.1399:0.2301:0.1439	1.897	0.03062	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1510.81	34	chrX	126820667	.	G	A	1510.81	.	AC=2;AF=0.053;AN=38;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.48;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1339	18	1	0	0
chrX	129576514	129576514	C	-	exonic	OCRL	.	frameshift deletion	OCRL:NM_000276:exon18:c.2077delC:p.P693Qfs*11,OCRL:NM_001318784:exon18:c.2080delC:p.P694Qfs*11,OCRL:NM_001587:exon18:c.2077delC:p.P693Qfs*11	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2101.77	34	chrX	129576513	.	AC	A	2101.77	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.38;SOR=1.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chrX	130012975	130012975	G	A	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.G203A:p.G68D,BCORL1:NM_001379451:exon4:c.G203A:p.G68D,BCORL1:NM_021946:exon4:c.G203A:p.G68D,BCORL1:NM_001184772:exon5:c.G203A:p.G68D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0336169119355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.064	0.44905	T	.	.	.	.	.	.	0.002832	0.35868	N	0.000000	0.584084	0.31075	N	.	.	.	0.48	0.55945	T	-0.38	0.13418	N	0.86	0.87699	-0.7081	0.60046	T	0.151	0.47979	T	10	0.6378375	0.68884	D	0.033617	0.55108	D	0.155	0.40530	0.16	0.06396	0.658802289784	0.65594	0.26988670266984277	0.26901	0.543992118055	0.51468	0.670438170433	0.62901	T	.	.	.	-0.0775579	0.40111	T	-0.349183	0.39300	T	0.576655541672815	0.35490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55535	B	.;.	.;.	3.443450	0.47919	22.5	0.99431376210323652	0.64276	0.91846	0.54389	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998006456015337	0.36301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	5.28	0.74118	4.654000	0.61164	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0837:0.0:0.9163:0.0	11.602	0.50265	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3606.77	34	chrX	130012975	.	G	A	3606.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.654;DP=790;ExcessHet=0;FS=1.856;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=1.03;SOR=0.536	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1823,0,1837	17	1	1	0
chrX	130067217	130067217	G	A	exonic	ELF4	.	nonsynonymous SNV	ELF4:NM_001127197:exon9:c.C1496T:p.P499L,ELF4:NM_001421:exon9:c.C1496T:p.P499L	.	.	.	.	.	.	.	.	.	.	.	3510375	ELF4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00329419705452	9.5e-05	.	1.186e-05	0	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs371747723	2.278e-05	2.276e-05	2.315e-05	2.204e-05	7.579e-05	1.563e-05	1.321e-05	1.254e-05	9.1e-06	7.579e-05	0	0	6.623e-05	0	0	1.901e-05	8.684e-05	1.848e-05	7.097e-05	6.959e-05	0.0001	0	0.0004	3.446e-05	2.499e-05	2.559e-05	1.481e-05	9.659e-05	0	0	0	0	0	0	7.517e-05	0	0.0004	0.095	0.31235	T	0.842	0.04636	T	0.0	0.02946	B	0.0	0.01387	B	0.701010	0.06202	N	1.170300	1	0.08975	N	0.46	0.12951	N	2.12	0.19726	T	-0.7	0.19933	N	0.081	0.05929	-0.9943	0.31485	T	0.035	0.15204	T	10	0.051219344	0.04971	T	0.003294	0.07298	T	0.071	0.20720	.	.	0.21174354426	0.20776	0.3818436429586098	0.38099	0.305461879015	0.32852	0.515462040901	0.40988	T	0.09897	0.40332	T	-0.592093	0.00163	T	-0.937984	0.00302	T	0.0264771900419572	0.01470	T	0.70183	0.31914	T	0.049515206	0.08803	0.08729371	0.20281	0.049515206	0.08802	0.08729371	0.20281	-4.22	0.27040	T	.	.	0.067	0.06341	B	.;.;.	.;.;.	1.004148	0.13828	10.38	0.77744414602398193	0.12004	0.55339	0.29839	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.0403574071852385	0.14435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.71	1.82	0.24209	1.244000	0.32381	3.376000	0.37968	0.674000	0.70861	0.037000	0.20830	1.000000	0.68203	0.980000	0.58198	0.3337:0.0:0.6663:0.0	4.585	0.11671	434	0.80536	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1765.81	37	chrX	130067217	.	G	A	1765.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.98;SOR=0.96	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1483	18	1	0	0
chrX	130384742	130384742	G	C	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.C706G:p.L236V	.	435	1049	18	20	0	58	0.0269017	.	.	.	706099	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.252115600102	0.0026	0.0018543	0.0022	0.0004	0.0003	0	0.0018	0.0033	0.0063	0.0022	0.002348	363	154602	rs41310452	0.0032	0.0032	0.0032	0.0034	0.0196	0.0032	0.0031	0.0162	0.0149	0.0006	0.0008	0.0007	0	0.0015	0.0196	0.0036	0.0034	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0032	0.0030	0.0006	0.0073	0.0015	0.0008	0	0.0008	0.0046	0.0036	0.0039	0.0030	0.396	0.10623	T	0.435	0.13518	T	0.905	0.49920	P	0.493	0.47443	P	0.007079	0.31620	N	0.270585	0.709009	0.33499	D	1.075	0.27130	L	1.19	0.37578	T	-0.97	0.25770	N	0.052	0.02366	-0.9257	0.44758	T	0.077	0.30859	T	10	0.012250364	0.00264	T	0.252116	0.89159	D	0.102	0.29158	.	.	0.72341110774	0.72096	0.49764782468746016	0.49685	0.984425732197	0.73851	0.496496796608	0.38339	T	0.025164	0.18872	T	-0.537071	0.00349	T	-0.546347	0.17678	T	0.0176764243814382	0.00499	T	0.683432	0.29175	T	0.1734513	0.38093	0.112142295	0.27056	0.1734513	0.38093	0.112142295	0.27055	-3.675	0.18950	T	.	.	0.070	0.03661	B	.	.	2.426414	0.31206	18.67	0.99423980889278363	0.63935	0.65208	0.32661	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00494949168087758	0.10771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	4.29	0.50359	1.355000	0.33671	8.526000	0.77440	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0958:0.1667:0.5623:0.1751	3.283	0.06515	361	0.84870	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015895	0.013605	0.014842	0.011858	0.071429	0.023529	0.022222	0.010526	0.02632	1427.33	34	chrX	130384742	.	G	C	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.176;DP=759;ExcessHet=0;FS=5.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.21;SOR=0.936	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1181	18	0	1	0
chrX	132054721	132054721	C	T	exonic	STK26	.	nonsynonymous SNV	STK26:NM_001042452:exon2:c.C133T:p.R45C,STK26:NM_016542:exon3:c.C133T:p.R45C	.	437	1073	10	2	0	14	0.00648148	.	.	.	743154	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.381	.	0.0041	0.00238411	0.0056	0.0002	0.0026	0	0.0108	0.0086	0.0064	0.0004	0.0052781	816	154602	rs56044451	0.0056	0.0056	0.0056	0.0056	0.0157	0.0054	0.0054	0.0127	0.0115	0.0005	0.0038	0.0142	0	0.0080	0.0157	0.0059	0.0068	0.0005	0.0046	0.0048	0.0046	0.0047	0.0062	0.0043	0.0042	0.0056	0.0054	0.0007	0.0058	0.0055	0.0132	0	0.0089	0.0184	0.0062	0.0066	0.0004	0.001	0.78490	D	0.074	0.45961	T	0.209	0.34565	B	0.048	0.32088	B	0.000006	0.62929	D	0.000000	1	0.81001	D	.	.	.	-0.2	0.66113	T	-6.51	0.92260	D	0.407	0.44761	-0.7050	0.60198	T	0.165	0.50258	T	10	0.00829038	0.00188	T	.	.	.	0.381	0.69863	.	.	0.799535280199	0.79766	0.8470690818160017	0.84667	1.88409368239	0.92644	0.887617170811	0.94961	D	0.252676	0.62310	T	-0.0763485	0.40307	T	0.122963	0.78431	D	0.0625795163614049	0.07570	T	0.978852	0.92760	D	0.8479754	0.87187	0.83646315	0.90606	0.8479754	0.87188	0.83646315	0.90606	-10.873	0.78957	D	.	.	0.296	0.63881	B	.;.;.;.	.;.;.;.	5.133457	0.85920	28.7	0.99865163505854637	0.94366	0.97203	0.73298	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998735	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	5.3	0.74745	4.938000	0.63220	5.962000	0.51841	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	17.991	0.89091	309	0.87553	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|MST4, kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.008270	0.000000	0.014842	0.007905	0.071429	0.011765	0.000000	0.000000	0.02632	1661.33	35	chrX	132054721	.	C	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.759;DP=755;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.639;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	18	0	1	0
chrX	135577340	135577340	A	T	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon14:c.A1921T:p.T641S,INTS6L:NM_182540:exon14:c.A1921T:p.T641S,INTS6L:NM_001351601:exon15:c.A2032T:p.T678S	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0019	0.0164238	0.0135	0.0018	0.1179	0	0	0.0009	0.0047	0.0020	0.0112353	1737	154602	rs34862419	0.0045	0.0045	0.0048	0.0038	0.1163	0.0044	0.0043	0.1133	0.1121	0.0020	0.1163	5.158e-05	0	2.467e-05	0.0005	0.0005	0.0059	0.0016	0.0088	0.0091	0.0084	0.0099	0.0775	0.0084	0.0082	0.0730	0.0713	0.0030	0	0.0775	0	0	0	0	0.0008	0.0204	0.0026	0.32	0.13566	T	0.432	0.13634	T	0.025	0.19245	B	0.024	0.20255	B	0.000002	0.62929	D	0.099758	0.0248443	0.39165	P	.	.	.	1.49	0.31470	T	-0.4	0.13805	N	0.026	0.00527	-1.0598	0.11805	T	0.012	0.04416	T	9	0.0017565489	0.00023	T	.	.	.	0.113	0.31778	0.384	0.40298	.	.	0.16898009487857157	0.16818	1.17986233694	0.79992	0.369068086147	0.20698	T	0.015292	0.12856	T	-0.71807	0.00028	T	-0.707518	0.05424	T	0.027907619092294	0.01674	T	0.778122	0.42156	T	0.22493584	0.45145	0.18489747	0.41571	0.22493584	0.45145	0.18489747	0.41570	-3.291	0.13621	T	.	.	0.111	0.21616	B	.;.	.;.	2.835312	0.37390	20.5	0.98034796645097799	0.37743	0.87207	0.46677	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999993093692496	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	3.187000	0.50651	8.047000	0.76340	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.550	0.61189	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.05263	2125.81	35	chrX	135577340	.	A	T	2125.81	.	AC=2;AF=0.053;AN=38;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.34;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:50,36:93:99:217,0,786	2	0	17	0
chrX	136231696	136231696	T	C	exonic	MAP7D3	.	nonsynonymous SNV	MAP7D3:NM_001173517:exon7:c.A1156G:p.S386G,MAP7D3:NM_001173516:exon8:c.A1207G:p.S403G,MAP7D3:NM_024597:exon8:c.A1261G:p.S421G	.	419	1098	3	2	0	7	0.00317749	.	.	.	3211133	MAP7D3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00211921	0.0014	0.0001	0.0001	0	0	6.259e-05	0	0.0118	0.001423	220	154602	rs746132174	0.0005	0.0005	0.0003	0.0009	0.0093	0.0005	0.0005	0.0087	0.0084	0	0	0	0	0	0.0012	3.091e-05	0.0004	0.0093	0.0002	0.0002	0.0001	0.0003	0.0073	0.0001	9.309e-05	0.0048	0.0040	0	0	0	0	0	0	0	0	0	0.0073	0.138	0.27783	T	0.029	0.58613	D	0.1	0.25713	B	0.038	0.23361	B	0.463058	0.12368	N	0.658682	1	0.08975	N	1.15	0.29295	L	3.14	0.07920	T	-1.94	0.45042	N	0.117	0.10626	-0.9771	0.35660	T	0.017	0.06950	T	10	0.0038897097	0.00074	T	.	.	.	0.018	0.03083	.	.	0.124217242631	0.12060	0.05581145503841251	0.05522	0.0719336447702	0.08059	0.225848734379	0.01675	T	0.019504	0.21048	T	-0.811169	0.00006	T	-0.930003	0.00332	T	0.0184895414335449	0.00565	T	0.421758	0.12390	T	0.07480482	0.16812	0.06443214	0.12913	0.07480482	0.16812	0.06443214	0.12912	-6.186	0.47809	T	0.2207883752694084	0.29768	0.077	0.09191	B	.;.;.;.	.;.;.;.	0.077120	0.04842	1.438	0.92150360204492321	0.21510	0.08805	0.14679	N	AEFBI	.	.	.	.	.	.	.	.	.	0.773137564410626	0.23707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8	1.16	0.19936	0.069000	0.14419	0.454000	0.18551	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1725:0.1967:0.0:0.6307	3.491	0.07201	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2080.33	34	chrX	136231696	.	T	C	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.409;DP=755;ExcessHet=0;FS=6.427;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.939;SOR=1.206	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1166	18	0	1	0
chrX	136344796	136344796	A	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.A1090G:p.I364V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00922799656581	.	.	2.297e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs775240661	7.311e-06	7.285e-06	4.085e-06	1.389e-05	0.0001	3.15e-06	2.27e-06	7.366e-05	5.394e-05	0	0	0	0	0	0	0	0	0.0001	8.89e-06	8.694e-06	0	2.886e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.04	0.44029	D	0.337	0.18178	T	0.028	0.22112	B	0.004	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.30669	T	0.02	0.07299	N	0.029	0.01274	-1.0379	0.17954	T	0.043	0.18701	T	9	0.049165994	0.04467	T	0.009228	0.24249	T	0.016	0.02506	0.26	0.20315	0.0846915920261	0.08053	0.0815900052916577	0.08093	0.0318762272791	0.03304	0.228279203176	0.01843	T	0.007394	0.06799	T	-0.612221	0.00123	T	-0.857511	0.00870	T	0.0486357772559787	0.05257	T	0.586841	0.21439	T	0.054563858	0.10487	0.10359523	0.24859	0.054563858	0.10486	0.10359523	0.24859	-3.769	0.20342	T	.	.	0.092	0.13783	B	.;.;.	.;.;.	0.719144	0.10881	7.555	0.73158051719343453	0.10227	0.28167	0.23479	N	AEFBI	.	.	.	.	.	.	.	.	.	0.996322334022658	0.34669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	2.73	0.31266	1.613000	0.36512	3.265000	0.37119	-0.102000	0.15922	0.787000	0.29557	0.987000	0.30940	0.048000	0.15020	0.8694:0.0:0.1306:0.0	6.070	0.19105	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	197	chrX	136344796	.	A	G	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=2193;ExcessHet=0;FS=3.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.202;SOR=0.945	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	18	0	1	0
chrX	136345708	136345708	A	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.A2002G:p.M668V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0344652083408	9.5e-05	.	1.143e-05	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs376744701	2.732e-06	2.732e-06	4.084e-06	0	0.0005	7.3e-07	2e-07	8.525e-05	3.55e-05	0	0	0	0	0	0.0005	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.47745	D	0.414	0.14369	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.28391	T	-0.8	0.22078	N	0.039	0.11626	-1.0173	0.24592	T	0.040	0.17234	T	9	0.049836367	0.04629	T	0.034465	0.55696	D	0.016	0.02506	.	.	0.167679373172	0.16340	0.17634226892610416	0.17553	0.0346634919227	0.03646	0.313748300076	0.12473	T	0.011416	0.10189	T	-0.617641	0.00114	T	-0.932639	0.00321	T	0.0489575796277499	0.05315	T	0.487551	0.14930	T	0.20160194	0.42176	0.2163135	0.46253	0.20160194	0.42176	0.2163135	0.46252	-2.632	0.09233	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	-0.481830	0.01927	0.162	0.32364156020033141	0.01871	0.00585	0.02632	N	AEFI	.	.	.	.	.	.	.	.	.	0.989885600737135	0.31965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	-0.978	0.09754	0.228000	0.17594	0.690000	0.20754	-0.109000	0.15193	0.002000	0.15269	0.034000	0.21380	0.054000	0.15518	0.335:0.0:0.665:0.0	6.463	0.21168	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4116.33	137	chrX	136345708	.	A	G	4116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=1825;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.085;SOR=0.64	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	18	0	1	0
chrX	136347549	136347549	G	T	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.G3843T:p.K1281N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00855885068314	9.5e-05	0.0018543	0.0006	0	0.0001	0	0	2.107e-05	0	0.0053	0.0005821	90	154602	rs202020116	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0012	7.14e-06	8.697e-05	0.0037	0.0001	0.0001	0.0001	8.768e-05	0.0041	6.863e-05	5.375e-05	0.0023	0.0018	0	0	0	0	0	0	0	3.769e-05	0	0.0041	0.062	0.36912	T	0.382	0.15890	T	0.001	0.07471	B	0.001	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.41058	T	-1.29	0.32387	N	0.052	0.06720	-1.0412	0.16951	T	0.045	0.19356	T	9	0.0042480826	0.00085	T	0.008559	0.22631	T	0.161	0.41658	0.241	0.17371	0.0401082797425	0.02173	0.08273771084589873	0.08208	0.0388868102797	0.04135	0.288540124893	0.08711	T	0.010392	0.09385	T	-0.852732	0.00002	T	-0.998187	0.00142	T	0.0258345094801122	0.01383	T	0.29867	0.05569	T	0.064691015	0.13749	0.075395234	0.16595	0.064691015	0.13749	0.075395234	0.16595	-4.327	0.28554	T	.	.	0.19	0.40842	B	.;.;.	.;.;.	-0.739476	0.01232	0.062	0.36647003556234331	0.02369	0.00808	0.03281	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999819396807034	0.43459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.05	-4.89	0.02875	-0.701000	0.05177	-0.099000	0.11964	-1.561000	0.00947	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3341:0.1464:0.2227:0.2969	0.178	0.00111	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2759.81	116	chrX	136347549	.	G	T	2759.81	.	AC=2;AF=0.053;AN=38;DP=1969;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.07;SOR=0.876	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	18	1	0	0
chrX	136680750	136680750	G	A	exonic	ARHGEF6	.	nonsynonymous SNV	ARHGEF6:NM_001306177:exon14:c.C1223T:p.S408L,ARHGEF6:NM_004840:exon15:c.C1685T:p.S562L	Mental retardation, X-linked 46, X-linked recessive	3	1516	2	1	0	4	0.00131752	.	.	.	430657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00630515350253	.	.	5.698e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs774734407	4.281e-05	4.279e-05	4.084e-05	4.679e-05	0.0005	3.298e-05	2.956e-05	8.516e-05	3.547e-05	0	0	0.0002	0	0	0.0005	4.276e-05	8.679e-05	1.847e-05	5.347e-05	5.22e-05	5.138e-05	5.819e-05	0.0001	2.319e-05	1.56e-05	4.835e-05	3.347e-05	0	0	0	0	0	0	0	0.0001	0	0	0.899	0.02550	T	0.795	0.04129	T	0.001	0.07471	B	0.001	0.04355	B	0.160803	0.17669	N	0.564077	0.999995	0.08975	N	0.55	0.14455	N	0.65	0.54728	T	-0.73	0.20576	N	0.388	0.45992	-1.0800	0.07349	T	0.065	0.26913	T	10	0.1420719	0.26989	T	0.006305	0.16551	T	0.099	0.28413	0.241	0.17371	0.623327264329	0.62026	0.15477527282966913	0.15398	0.25236330413	0.27803	0.544069111347	0.45021	T	0.189032	0.54313	T	-0.370062	0.03590	T	-0.543643	0.17941	T	0.0606795403751997	0.07276	T	0.882712	0.60367	D	0.07456359	0.16742	0.08294013	0.18968	0.07456359	0.16742	0.08294013	0.18968	-4.26	0.27612	T	0.07658476503085443	0.03512	0.075	0.07841	B	.;.;.	.;.;.	2.784536	0.36587	20.3	0.76350758524469386	0.11433	0.71865	0.35199	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.991480944944952	0.32504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	4.06	0.46572	3.778000	0.55078	8.864000	0.78324	0.618000	0.50648	0.165000	0.23867	1.000000	0.68203	0.987000	0.62547	0.1115:0.0:0.5351:0.3533	5.166	0.14412	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.02632	1398.33	34	chrX	136680750	.	G	A	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=753;ExcessHet=0;FS=1.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=1.38;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	18	0	1	0
chrX	137031584	137031584	C	T	exonic	GPR101	.	nonsynonymous SNV	GPR101:NM_054021:exon2:c.G91A:p.G31S	Pituitary adenoma, growth hormone-secreting 2	426	1094	1	1	0	3	0.00136924	.	.	.	2882279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	0.00906308111877	0.0003	.	0.0010	0	0.0011	0.0002	0	0.0015	0.0016	0.0003	0.0007633	118	154602	rs138068185	0.0006	0.0006	0.0006	0.0006	0.0027	0.0006	0.0005	0.0015	0.0012	7.587e-05	0.0010	0.0216	0	2.478e-05	0.0027	0.0001	0.0019	0.0002	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0005	0.0004	6.452e-05	0	0.0009	0.0215	0	0	0.0093	0.0001	0	0	0.323	0.13436	T	0.42	0.14116	T	0.48	0.36739	P	0.072	0.28043	B	.	.	.	.	0.745878	0.29688	N	1.845	0.48678	L	1.26	0.36330	T	-0.57	0.17210	N	0.02	0.00308	-1.0838	0.06628	T	0.049	0.20711	T	9	0.0058976114	0.00132	T	0.009063	0.23845	T	0.062	0.17934	.	.	0.96746206543	0.96711	.	.	0.89827798365	0.70541	0.440764904022	0.30681	T	5.51E-4	0.00219	T	-0.528645	0.00391	T	-0.634105	0.10105	T	0.0208616862902688	0.00787	T	0.650035	0.26084	T	0.1658763	0.36888	0.26842114	0.52711	0.18768466	0.40234	0.25520706	0.51198	-2.836	0.08520	T	.	.	0.310	0.53747	B	.	.	2.261428	0.28895	17.95	0.9830297567117392	0.40068	0.92490	0.55834	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999977455974167	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.09	4.13	0.47661	0.446000	0.21410	3.416000	0.38220	0.549000	0.26987	0.984000	0.35821	0.998000	0.33993	0.979000	0.57723	0.2375:0.7625:0.0:0.0	10.625	0.44692	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.002065	0.000000	0.001855	0.007905	0.000000	0.000000	0.000000	0.000000	0.05263	3137.81	44	chrX	137031584	.	C	T	3137.81	.	AC=2;AF=0.053;AN=38;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.35;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	18	1	0	0
chrX	139617575	139617575	C	T	exonic	MCF2	.	nonsynonymous SNV	MCF2:NM_001171877:exon7:c.G820A:p.E274K,MCF2:NM_001171878:exon8:c.G937A:p.E313K,MCF2:NM_001171879:exon8:c.G937A:p.E313K,MCF2:NM_005369:exon8:c.G937A:p.E313K,MCF2:NM_001099855:exon11:c.G1117A:p.E373K,MCF2:NM_001171876:exon11:c.G1117A:p.E373K	.	12	1507	1	2	0	5	0.00165618	.	.	.	729436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	0.0586838976067	0.0013	0.000529801	0.0011	0	0.0011	0	0.0055	0.0011	0.0032	0.0008	0.0011061	171	154602	rs61752695	0.0011	0.0011	0.0010	0.0011	0.0018	0.0010	0.0010	0.0014	0.0013	0.0002	0.0018	5.212e-05	0	0.0031	0.0015	0.0010	0.0012	0.0007	0.0012	0.0013	0.0011	0.0014	0.0024	0.0010	0.0010	0.0017	0.0014	0.0002	0	0.0024	0	0	0.0051	0	0.0014	0.0007	0	0.021	0.49613	D	0.277	0.24334	T	0.269	0.56581	B	0.155	0.63417	B	0.000000	0.84330	D	0.047548	0.972702	0.39583	D	2.98	0.85499	M	0.83	0.47815	T	-2.76	0.59226	D	0.35	0.40565	-0.6356	0.63333	T	0.286	0.65744	T	10	0.009541601	0.00215	T	0.058684	0.67403	D	0.166	0.42578	.	.	0.757902743755	0.75570	0.32824406393362493	0.32737	0.94921304042	0.72548	0.580877304077	0.50209	T	0.309735	0.68174	T	-0.245743	0.14624	T	-0.133033	0.60715	T	0.109637627431048	0.13386	T	0.961404	0.85511	D	0.77102333	0.82109	0.5801736	0.75667	0.77102333	0.82111	0.5801736	0.75668	-5.182	0.45579	T	.	.	0.217	0.46401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.592142	0.50690	23.0	0.99921529298214851	0.98787	0.98858	0.87789	D	AEFI	.	.	.	.	.	.	.	.	.	0.999992739989848	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.98	5.98	0.97147	2.358000	0.43788	4.847000	0.45339	0.549000	0.26987	0.974000	0.34632	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.196	0.89754	974	0.05496	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.003448	0.013605	0.001855	0.003968	0.000000	0.000000	0.004425	0.000000	0.05263	1319.81	34	chrX	139617575	.	C	T	1319.81	.	AC=2;AF=0.053;AN=38;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.19;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	18	1	0	0
chrX	141697635	141697635	G	T	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.C124A:p.L42I	.	468	1037	12	5	0	22	0.0104962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	.	0.0050	0.0219	0.0026	0.0054	0.0018	0.0025	0.0048	0.0060	3.84e-05	1	26028	rs149669480	0.0004	0.0025	0.0003	0.0006	0.0044	0.0004	0.0004	0.0038	0.0035	0.0044	0.0003	0.0002	0.0013	0.0004	0.0015	0.0002	0.0007	0.0007	0.0013	0.0076	0.0018	9.563e-05	0.0037	0.0011	0.0010	0.0031	0.0029	0.0037	0	0.0009	0.0008	0.0003	0	0.0101	0.0003	0.0007	0.0004	0.141	0.25560	T	0.274	0.22084	T	0.025	0.19245	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-0.68	0.19509	N	0.107	0.09207	-0.9662	0.37974	T	0.015	0.06186	T	6	0.005303383	0.00116	T	.	.	.	0.024	0.04979	.	.	0.0611884634855	0.05136	9.016860235540324E-4	0.00083	6.76067209451E-4	0.00063	.	.	.	0.004243	0.03650	T	-0.797618	0.00008	T	-0.91878	0.00385	T	0.00413528364151716	0.00044	T	0.346965	0.07635	T	0.25396782	0.48421	0.14669764	0.34745	0.25396782	0.48421	0.14669764	0.34744	-4.111	0.25452	T	.	.	0.121	0.25133	B	.	.	-0.353704	0.02391	0.265	0.79167193764423383	0.12620	0.00285	0.01534	N	AEFI	.	.	.	.	.	.	.	.	.	1.21411294066054E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418000	0.20950	.	.	-1.314000	0.01232	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.012922	0.006849	0.020561	0.004762	0.000000	0.000000	0.004484	0.021164	0.05263	3394.81	35	chrX	141697635	.	G	T	3394.81	.	AC=2;AF=0.053;AN=38;DP=978;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=51.83;QD=29.11;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1326:.	18	1	0	0
chrX	141896858	141896858	C	A	exonic	MAGEC3	.	nonsynonymous SNV	MAGEC3:NM_177456:exon5:c.C206A:p.S69Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00263472389447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.523	0.10354	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.51	0.04959	T	-0.96	0.25551	N	0.17	0.18103	-0.9714	0.36904	T	0.011	0.03949	T	8	0.1117104	0.20929	T	0.002635	0.05349	T	0.022	0.04323	0.335	0.32329	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.591663	0.00164	T	-1.08766	0.00035	T	0.0563047676924998	0.06573	T	0.236176	0.03286	T	.	.	.	.	.	.	.	.	-6.746	0.52156	T	.	.	0.141	0.30971	B	.;.	.;.	-0.396787	0.02224	0.224	0.57393752042979684	0.05760	0.01039	0.03885	N	AEFHCI	.	.	.	.	.	.	.	.	.	4.82390176892431E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1	-2.2	0.06601	-0.910000	0.04163	.	.	-0.476000	0.05080	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3048:0.2603:0.0:0.4349	1.531	0.02382	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	218.33	34	chrX	141896858	.	C	A	218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.311;DP=788;ExcessHet=0;FS=99.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=-0.155;SOR=6.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1183	18	0	1	0
chrX	141905074	141905074	T	C	exonic	MAGEC1	.	startloss	MAGEC1:NM_005462:exon3:c.T2C:p.M1?	.	431	1089	1	1	0	3	0.00137552	0	0.002	.	1671782	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	0.000710714109778	0.0038	0.000794702	0.0029	0.0005	0.0008	0	0.0079	0.0040	0.0048	0.0010	0.0028525	441	154602	rs113574601	0.0040	0.0040	0.0041	0.0038	0.0045	0.0039	0.0039	0.0044	0.0043	0.0003	0.0014	0.0001	0	0.0087	0.0017	0.0045	0.0038	0.0012	0.0031	0.0032	0.0031	0.0032	0.0047	0.0029	0.0028	0.0042	0.0041	0.0007	0	0.0017	0	0	0.0090	0.0046	0.0047	0.0019	0.0007	0.0	0.91255	D	0.076	0.42614	T	0.462	0.36386	P	0.227	0.38084	B	.	.	.	.	1	0.20820	N	.	.	.	4.28	0.02487	T	-0.14	0.09135	N	0.11	0.09631	-1.0251	0.22050	T	0.018	0.07659	T	8	0.008170396	0.00185	T	7.11E-4	0.00454	T	0.127	0.34888	.	.	0.167679373172	0.16340	0.08129366640104177	0.08064	.	.	.	.	.	0.003176	0.02576	T	-0.610638	0.00125	T	-0.646469	0.09203	T	0.0159953456163765	0.00381	T	0.9	0.65058	D	0.67998093	0.76968	0.45140204	0.68081	0.67998093	0.76969	0.45140204	0.68081	-8.005	0.61105	D	.	.	.	.	.	.	.	0.192715	0.05785	2.228	0.3678234165998856	0.02386	0.01059	0.03935	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.373331475002743	0.19891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	-1.75	0.07598	-1.452000	0.02492	.	.	0.287000	0.18726	0.004000	0.16614	0.000000	0.08366	0.142000	0.20019	0.5647:0.0:0.0:0.4353	3.631	0.07672	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.002063	0.000000	0.000000	0.011858	0.000000	0.000000	0.000000	0.000000	0.05263	1846.81	37	chrX	141905074	.	T	C	1846.81	.	AC=2;AF=0.053;AN=38;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=1.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	18	1	0	0
chrX	141906120	141906120	C	0	exonic	MAGEC1	.	.	.	.	500	967	15	0	40	55	0.00769625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	299.41	240	chrX	141906120	.	C	*	299.41	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.14;DP=3133;ExcessHet=0;FS=0;InbreedingCoeff=0.7378;MLEAC=1;MLEAF=0.029;MQ=55.07;MQRankSum=1.19;QD=0.77;ReadPosRankSum=1.1;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,120,1800:.	16	0	1	2
chrX	141906120	141906120	C	G	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C716G:p.P239R	.	500	967	15	0	40	55	0.00769625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0333775	0.0110	0.0112	0.0069	0.0029	0.0063	0.0087	0.0119	0.0342	0.0010931	169	154602	rs146816736	0.0030	0.0055	0.0037	0.0015	0.0081	0.0029	0.0029	0.0074	0.0070	0.0018	0.0006	0.0007	0.0026	0.0008	0.0023	0.0032	0.0021	0.0081	0.0011	0.0026	0.0015	0.0003	0.0049	0.0010	0.0009	0.0024	0.0018	0.0012	0	0.0009	0	0.0013	0.0004	0	0.0011	0.0016	0.0049	0.004	0.65419	D	0.003	0.76473	D	0.012	0.16265	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.29	0.02462	T	-0.06	0.07882	N	0.048	0.01999	-0.9780	0.35458	T	0.015	0.06234	T	8	0.002475053	0.00037	T	.	.	.	0.031	0.07369	.	.	.	.	0.011133454461516335	0.01073	.	.	0.4584004879	0.33090	T	0.00581	0.05258	T	-0.744358	0.00019	T	-0.8326	0.01217	T	0.0024389201786882	0.00025	T	0.243776	0.03556	T	0.06806868	0.14799	0.10707688	0.25773	0.06806868	0.14799	0.10707688	0.25772	-4.954	0.36336	T	.	.	0.285	0.51746	B	.	.	0.925584	0.13005	9.511	0.83700579037824874	0.14871	0.01975	0.05977	N	AEFBCI	.	.	.	.	.	.	.	.	.	8.80099150649657E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.601000	0.05783	.	.	-2.951000	0.00151	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5025:0.0:0.4974	2.669	0.04749	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.131083	0.109589	0.104869	0.130435	0.071429	0.129412	0.130631	0.159574	0.02941	299.41	240	chrX	141906120	.	C	G	299.41	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.14;DP=3133;ExcessHet=0;FS=0;InbreedingCoeff=0.7378;MLEAC=1;MLEAF=0.029;MQ=55.07;MQRankSum=1.19;QD=0.77;ReadPosRankSum=1.1;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,120,1800:.	16	0	1	2
chrX	141906126	141906126	C	0	exonic	MAGEC1	.	.	.	.	64	97	38	6	21	71	0.204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	366.75	230	chrX	141906126	.	C	*	366.75	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.626;DP=3466;ExcessHet=0;FS=0;InbreedingCoeff=0.4804;MLEAC=2;MLEAF=0.125;MQ=55.85;MQRankSum=1.19;QD=0.95;ReadPosRankSum=1.68;SOR=0.47	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:156,0:156:0:.:.:0,0,0:.	7	0	1	11
chrX	141906175	141906175	G	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.G771C:p.Q257H	.	525	919	45	28	5	106	0.0520887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0033	0.00768212	0.0042	0.0022	0.0031	0.0011	0.0039	0.0053	0.0030	0.0060	0.0014215	37	26028	rs143440588	0.0009	0.0017	0.0008	0.0013	0.0055	0.0009	0.0008	0.0047	0.0044	0.0009	0.0010	0	0.0055	9.855e-05	0.0015	0.0006	0.0006	0.0035	0.0010	0.0029	0.0009	0.0011	0.0063	0.0008	0.0007	0.0032	0.0023	0.0010	0	0.0005	0	0.0013	0	0.0092	0.0010	0	0.0063	0.0	0.91255	D	0.005	0.72224	D	0.162	0.28404	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	4.38	0.02255	T	-0.62	0.18248	N	0.06	0.03175	-0.9871	0.33323	T	0.010	0.03492	T	8	0.005740702	0.00128	T	.	.	.	0.139	0.37390	0.062	0.00241	0.0482279557977	0.04254	0.04212803189635986	0.04157	.	.	0.468453377485	0.34467	T	0.004497	0.03907	T	-0.657746	0.00065	T	-0.720947	0.04750	T	0.00912418592773104	0.00115	T	0.29657	0.05494	T	0.14869182	0.33934	0.12055436	0.29093	0.14869182	0.33933	0.12055436	0.29092	-3.916	0.22542	T	.	.	0.269	0.50297	B	.	.	-1.521857	0.00282	0.005	0.29134421010532779	0.01530	0.00511	0.02393	N	AEFBCI	.	.	.	.	.	.	.	.	.	5.517823466455E-4	0.07304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.950000	0.00369	.	.	-6.510000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0E-4:0.3473:0.6526	4.102	0.09491	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003012	0.000000	0.005682	0.005525	0.000000	0.000000	0.000000	0.000000	0.05556	3898.63	163	chrX	141906175	.	G	C	3898.63	.	AC=2;AF=0.056;AN=36;DP=2444;ExcessHet=0;FS=0;InbreedingCoeff=0.8633;MLEAC=2;MLEAF=0.056;MQ=59.54;QD=30.94;SOR=0.826	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	17	1	0	1
chrX	141906803	141906803	-	AGAGT	exonic	MAGEC1	.	frameshift insertion	MAGEC1:NM_005462:exon4:c.1399_1400insAGAGT:p.H467Qfs*18	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491074505	4.771e-05	4.749e-05	2.886e-05	8.558e-05	0.0007	3.704e-05	3.354e-05	0.0002	0.0001	3.832e-05	2.889e-05	0.0004	0	0	0.0007	2.512e-05	0.0001	0.0002	2.742e-05	2.623e-05	3.867e-05	0	3.812e-05	7.29e-06	3.02e-06	6.32e-06	2.37e-06	0	0	0	0.0004	0	0	0	3.812e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2417.67	247	chrX	141906803	.	C	CAGAGT	2417.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.55;DP=2836;ExcessHet=0;FS=10.598;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.84;MQRankSum=-6.069;QD=10.79;ReadPosRankSum=2.25;SOR=1.342	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:277,0:277:99:.:.:0,120,1800:.	17	0	1	1
chrX	141906805	141906805	-	TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	exonic	MAGEC1	.	stopgain	MAGEC1:NM_005462:exon4:c.1401_1402insTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG:p.S468Ffs*2	.	1	164	40	20	1	81	0.196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.952e-05	0.0001	4.778e-05	0.0001	0.0007	5.693e-05	5.197e-05	0.0002	0.0001	7.643e-05	2.85e-05	0.0007	0	0	0.0007	4.41e-05	0.0002	0.0002	2.958e-05	2.716e-05	4.04e-05	0	4.013e-05	7.86e-06	4.18e-06	6.65e-06	2.49e-06	0	0	0	0.0004	0	0	0	4.013e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	37150.6	278	chrX	141906805	.	C	CTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	37150.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=3118;ExcessHet=0.0524;FS=0;InbreedingCoeff=0.3603;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-0.647;QD=18.53;ReadPosRankSum=-0.517;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:136,0:282:99:.:.:3976,4383,8276:.	18	0	1	0
chrX	141907747	141907749	CTT	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.2343_2345del:p.F783del	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010596	0.0007	0	0	0	0	0	0	0.0058	0.0002305	6	26028	rs769737571	0.0003	0.0003	0.0002	0.0005	0.0057	0.0003	0.0003	0.0052	0.0050	3.792e-05	0	0	0	0	0.0005	1.188e-05	0.0004	0.0057	0.0002	0.0002	0.0002	0.0002	0.0070	0.0001	0.0001	0.0045	0.0037	3.337e-05	0	0	0	0	0	0	3.818e-05	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002066	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.010526	0.02632	5401.29	42	chrX	141907746	.	CCTT	C	5401.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.064;DP=1159;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	18	0	1	0
chrX	143628736	143628736	C	G	exonic	SLITRK4	.	nonsynonymous SNV	SLITRK4:NM_001184749:exon2:c.G2373C:p.K791N,SLITRK4:NM_001184750:exon2:c.G2373C:p.K791N,SLITRK4:NM_173078:exon2:c.G2373C:p.K791N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.397435481738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.083	0.41405	T	0.457	0.36287	P	0.177	0.35687	B	0.000000	0.84330	U	0.000000	0.999983	0.54805	D	0.895	0.22405	L	0.52	0.55266	T	-1.54	0.37375	N	0.571	0.59393	-0.8979	0.48205	T	0.147	0.47273	T	10	0.50593966	0.61818	D	0.397435	0.93323	D	0.111	0.31313	0.322	0.30226	0.420544483464	0.41669	0.4237341382815121	0.42290	.	.	0.712317109108	0.68930	T	0.064523	0.32457	T	-0.112877	0.34293	T	-0.399916	0.33395	T	0.720364272594452	0.41718	D	0.849315	0.53201	T	0.6638654	0.76105	0.49604106	0.70857	0.6638654	0.76106	0.49604106	0.70857	-4.008	0.23923	T	.	.	0.806	0.77998	P	.;.;.	.;.;.	2.148533	0.27367	17.44	0.99605941636052009	0.74516	0.92437	0.55710	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997243156327411	0.35414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	3.246000	0.51115	4.046000	0.41467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.602	0.84672	987	0.02648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2742.81	35	chrX	143628736	.	C	G	2742.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=0.922	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1588	18	1	0	0
chrX	145824925	145824925	G	T	exonic	SLITRK2	.	stopgain	SLITRK2:NM_001144009:exon2:c.G2500T:p.E834X,SLITRK2:NM_001144006:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144008:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144010:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144003:exon5:c.G2500T:p.E834X,SLITRK2:NM_001144004:exon5:c.G2500T:p.E834X,SLITRK2:NM_001144005:exon5:c.G2500T:p.E834X,SLITRK2:NM_032539:exon5:c.G2500T:p.E834X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	0.263	0.29774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.453987	0.97585	37	0.99609354430669972	0.74694	0.99562	0.97468	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999994984869518	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.38	5.38	0.77279	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.493	0.75361	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2602.81	44	chrX	145824925	.	G	T	2602.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.74;SOR=1.151	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1441	18	1	0	0
chrX	148991285	148991285	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon18:c.G2812A:p.V938I,AFF2:NM_001169122:exon20:c.G3784A:p.V1262I,AFF2:NM_001169124:exon20:c.G3784A:p.V1262I,AFF2:NM_001169125:exon20:c.G3772A:p.V1258I,AFF2:NM_001169123:exon21:c.G3859A:p.V1287I,AFF2:NM_002025:exon21:c.G3889A:p.V1297I	Mental retardation, X-linked, FRAXE type, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.255277389711	.	.	3.45e-05	0.0001	0	0	0	4.184e-05	0	0	3.88e-05	6	154602	rs782158550	6.386e-06	6.374e-06	1.361e-06	1.659e-05	3.797e-05	2.66e-06	1.71e-06	2.57e-06	1.69e-06	3.797e-05	0	0	0	0	0	7.135e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.29554	T	0.293	0.28120	T	0.789	0.44570	P	0.239	0.42046	B	0.000951	0.40932	D	0.159011	0.981784	0.39816	D	0.78	0.19475	N	-0.08	0.63911	T	-0.53	0.16393	N	0.143	0.23758	-0.7973	0.55303	T	0.175	0.51896	T	10	0.30912435	0.48402	T	0.255277	0.89284	D	0.112	0.31546	0.577	0.70217	0.624357547178	0.62130	0.8610039640473544	0.86064	0.816906353025	0.66982	0.433256924152	0.29654	T	0.207755	0.56748	T	-0.337303	0.05577	T	-0.529298	0.19356	T	0.0954875978781952	0.11854	T	0.816118	0.47137	T	0.16993482	0.37538	0.16030027	0.37343	0.16993482	0.37538	0.16030027	0.37343	-1.56	0.03300	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	3.706031	0.52884	23.3	0.99608338005863162	0.74634	0.85717	0.44880	D	AEFI	.	.	.	.	.	.	.	.	.	0.992706088167473	0.32938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.46	4.4	0.52402	3.965000	0.56495	9.427000	0.80782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0879:0.0:0.9121:0.0	14.133	0.64803	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.05263	2463.81	33	chrX	148991285	.	G	A	2463.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.19;SOR=0.718	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	18	1	0	0
chrX	149546789	149546789	G	A	exonic	EOLA1	.	nonsynonymous SNV	EOLA1:NM_001171909:exon4:c.G304A:p.D102N,EOLA1:NM_001171907:exon5:c.G304A:p.D102N,EOLA1:NM_001171908:exon5:c.G304A:p.D102N,EOLA1:NM_001324274:exon5:c.G304A:p.D102N,EOLA1:NM_001324275:exon5:c.G304A:p.D102N,EOLA1:NM_001324276:exon5:c.G304A:p.D102N,EOLA1:NM_001324277:exon5:c.G304A:p.D102N,EOLA1:NM_001324278:exon5:c.G304A:p.D102N,EOLA1:NM_001324279:exon5:c.G304A:p.D102N,EOLA1:NM_001324280:exon5:c.G304A:p.D102N,EOLA1:NM_178124:exon5:c.G304A:p.D102N	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00101751622767	0.0003	0.000264901	0.0006	0.0002	0	0.0002	0	0.0005	0	0.0025	0.0005498	85	154602	rs141148310	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0024	0.0020	0.0001	0.0002	0.0043	0	0	0.0039	0.0002	0.0008	0.0024	0.0005	0.0005	0.0005	0.0006	0.0022	0.0004	0.0004	0.0015	0.0013	9.918e-05	0	0.0022	0.0050	0	0	0	0.0003	0.0013	0.0008	0.21	0.19639	T	0.365	0.16717	T	0.109	0.26142	B	0.009	0.14300	B	0.950486	0.07653	N	1.024090	1	0.08975	N	1.43	0.35840	L	1.91	0.23283	T	-1.18	0.30140	N	0.029	0.05414	-1.0208	0.23454	T	0.056	0.23565	T	10	0.007181227	0.00163	T	0.001018	0.01120	T	0.048	0.13305	.	.	0.23798241625	0.23396	0.32840744348649764	0.32753	1.15193762352	0.79231	.	.	.	0.036296	0.24050	T	-0.812396	0.00006	T	-0.945585	0.00277	T	0.00661153466416624	0.00074	T	0.565243	0.22167	T	0.15605037	0.35236	0.086282216	0.19980	0.15605037	0.35235	0.086282216	0.19980	-5.834	0.45093	T	.	.	0.076	0.07460	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.153115	0.15411	11.83	0.94954493500231552	0.25865	0.13384	0.17825	N	AEFDGCI	.	.	.	.	.	.	.	.	.	5.79061404487817E-4	0.07363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.02	3.16	0.35406	2.925000	0.48580	.	.	-0.776000	0.03386	0.373000	0.25949	0.000000	0.08366	0.000000	0.00833	0.1008:0.1736:0.7256:0.0	6.753	0.22682	912	0.21483	ASCH domain;ASCH domain;ASCH domain;ASCH domain;ASCH domain;.;.;.;.;ASCH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004494	0.000000	0.000000	0.011364	0.000000	0.000000	0.014085	0.005405	0.05263	2231.81	39	chrX	149546789	.	G	A	2231.81	.	AC=2;AF=0.053;AN=38;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=41.69;QD=28.25;SOR=1.207	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1359	18	1	0	0
chrX	149599565	149599565	C	T	exonic	TMEM185A	.	nonsynonymous SNV	TMEM185A:NM_001174092:exon5:c.G620A:p.G207E,TMEM185A:NM_032508:exon6:c.G797A:p.G266E	.	420	1084	18	0	0	18	0.00823422	.	.	.	2424077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.527	.	.	.	0.0090	0	0	0	.	0.0107	0	0	.	.	.	rs782032084	0.0057	0.0096	0.0082	0.0002	0.0063	0.0055	0.0055	0.0061	0.0060	0.0011	0.0032	0.0042	3.409e-05	0.0113	0.0048	0.0063	0.0054	0.0004	0.0039	0.0076	0.0052	0.0008	0.0056	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0036	0.0031	0	0.0093	0.0145	0.0056	0.0047	0.0004	.	.	.	0.003	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.73	0.26445	T	.	.	.	0.889	0.90476	-0.6719	0.61742	T	0.184	0.53331	T	10	0.010289013	0.00230	T	.	.	.	.	.	.	.	.	.	0.8568128047925844	0.85644	.	.	0.885326087475	0.94665	D	0.372878	0.73698	T	-0.144225	0.29219	T	0.0369747	0.72731	D	0.0948123463911389	0.11776	T	0.983002	0.94220	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.92581	P	.;.;.	.;.;.	4.714184	0.75770	26.4	0.99763465761409065	0.85254	0.97164	0.73066	D	AEFI	.	.	.	.	.	.	.	.	.	0.999976458047837	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37	4.37	0.51830	7.757000	0.84067	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.143	0.72302	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.005602	0.000000	0.000000	0.032258	0.000000	0.000000	0.000000	0.000000	0.02632	995.33	36	chrX	149599565	.	C	T	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=800;ExcessHet=0;FS=18.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.98;MQRankSum=-5.304;QD=9.39;ReadPosRankSum=-0.972;SOR=2.079	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1343	18	0	1	0
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L,MAGEA11:NM_005366:exon5:c.A280C:p.I94L	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010323	0.006803	0.009276	0.011858	0.000000	0.023529	0.008850	0.010526	0.05263	2341.81	103	chrX	149715766	.	A	C	2341.81	.	AC=2;AF=0.053;AN=38;DP=1123;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.98;SOR=1.195	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	18	1	0	0
chrX	149932557	149932557	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G464A:p.G155E	.	443	1063	11	5	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0046	.	0.0072	0.0019	0.0010	0	0.0260	0.0098	0.0142	0.0015	0.0002717	42	154602	rs62612596	0.0090	0.0090	0.0090	0.0089	0.0095	0.0088	0.0088	0.0093	0.0092	0.0012	0.0010	0.0062	0	0.0298	0.0061	0.0095	0.0081	0.0014	0.0065	0.0069	0.0066	0.0063	0.0088	0.0061	0.0060	0.0081	0.0078	0.0012	0.0104	0.0023	0.0042	0	0.0295	0.0143	0.0088	0.0035	0.0004	0.218	0.19090	T	0.355	0.17217	T	0.022	0.18677	B	0.012	0.16012	B	0.497974	0.11982	N	0.751280	1	0.19694	N	-0.075	0.04822	N	1.89	0.23688	T	0.7	0.02163	N	0.031	0.00770	-0.9708	0.37030	T	0.016	0.06664	T	10	0.0025525987	0.00039	T	.	.	.	0.015	0.02232	.	.	0.043077524339	0.03247	0.46391181987993696	0.46310	0.809143592112	0.66660	.	.	.	0.003343	0.02748	T	-0.849213	0.00003	T	-0.990416	0.00158	T	0.00112221236122483	0.00011	T	0.419458	0.11115	T	0.04656405	0.07814	0.097568035	0.23228	0.04656405	0.07814	0.097568035	0.23228	-3.266	0.13302	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	0.825164	0.11966	8.525	0.88900545417983212	0.18347	0.01427	0.04807	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.581531218472406	0.21575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.89	0.18352	0.177000	0.16615	.	.	0.454000	0.21428	0.006000	0.17386	0.000000	0.08366	0.526000	0.29613	0.0:0.385:0.0:0.615	4.158	0.09735	484	0.77165	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.007591	0.000000	0.009276	0.000000	0.000000	0.000000	0.013274	0.015789	0.05556	1386.59	33	chrX	149932557	.	C	T	1386.59	.	AC=2;AF=0.056;AN=36;DP=616;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.056;MQ=42.53;QD=34.66;SOR=4.021	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	17	1	0	1
chrX	150473695	150473695	T	A	exonic	MAMLD1	.	nonsynonymous SNV	MAMLD1:NM_001177466:exon3:c.T1858A:p.F620I,MAMLD1:NM_005491:exon4:c.T1933A:p.F645I	Hypospadias 2, X-linked, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00907585763944	.	.	6.839e-05	0	0	0	0	2.084e-05	0	0.0005	7.12e-05	11	154602	.	4.556e-05	4.553e-05	1.906e-05	9.921e-05	0.0008	3.504e-05	3.162e-05	0.0006	0.0005	0	0	5.161e-05	0	0	0.0005	2.377e-06	6.511e-05	0.0008	1.788e-05	1.741e-05	0	5.88e-05	3.766e-05	2.97e-06	1.11e-06	6.25e-06	2.34e-06	0	0	0	0	0	0	0	3.766e-05	0	0	0.068	0.35726	T	0.436	0.13480	T	0.358	0.33818	B	0.039	0.23607	B	0.940829	0.07593	N	1.032470	1	0.08975	N	1.735	0.44892	L	0.35	0.58029	T	0.06	0.06253	N	0.101	0.30914	-1.0051	0.28427	T	0.107	0.39051	T	10	0.046710014	0.03897	T	0.009076	0.23893	T	0.074	0.21613	0.329	0.31357	0.370276754211	0.36643	.	.	.	.	.	.	.	0.047255	0.27667	T	-0.400464	0.02299	T	-0.470284	0.25485	T	0.0342853596816643	0.02686	T	0.685131	0.29365	T	0.08080728	0.18534	0.11570843	0.27932	0.08080728	0.18534	0.11570843	0.27931	-4.164	0.26228	T	.	.	0.517	0.65793	A	.;.;.	.;.;.	2.139439	0.27245	17.40	0.94649811774624526	0.25254	0.03734	0.09030	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.9996514768214	0.41424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.68	1.26	0.20534	0.365000	0.20076	0.791000	0.21569	0.665000	0.62972	0.061000	0.21800	0.977000	0.30130	0.999000	0.91618	0.0:0.2728:0.0:0.7272	4.809	0.12703	962	0.08456	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.000689	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	1615.81	39	chrX	150473695	.	T	A	1615.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.38;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	18	1	0	0
chrX	150512573	150512573	C	A	exonic	MAMLD1	.	nonsynonymous SNV	MAMLD1:NM_001177465:exon5:c.C2497A:p.Q833K	Hypospadias 2, X-linked, X-linked recessive	1	1509	8	4	0	16	0.00527357	.	.	.	3195431	MAMLD1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.028	.	.	.	0.0031	0	0.016	0	0	0.0047	0	0.0020	0.000304	47	154602	rs782701412	0.0006	0.0006	0.0006	0.0007	0.0013	0.0006	0.0006	0.0010	0.0009	0.0002	0.0006	0.0075	0	0	0.0012	0.0004	0.0010	0.0013	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0003	0.0004	0.0003	6.443e-05	0	0.0004	0.0068	0	0	0	0.0005	0	0	0.606	0.05534	T	0.514	0.10678	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.27	0.11366	N	0.027	0.00571	-1.0309	0.20163	T	0.084	0.32872	T	9	0.003766954	0.00070	T	.	.	.	0.028	0.06331	0.229	0.15556	0.082315109003	0.07666	0.364767780560659	0.36390	0.222365750283	0.24767	0.327036798	0.14487	T	.	.	.	-0.758206	0.00016	T	-0.897265	0.00522	T	0.00194596871733665	0.00020	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-4.071	0.24861	T	.	.	0.084	0.09627	B	.	.	-0.890348	0.00941	0.036	0.42201352275161935	0.03095	0.01390	0.04723	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988379767975744	0.31495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.49	0.136	0.14079	-0.383000	0.07456	-2.561000	0.03607	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.3424:0.3244:0.1669	1.712	0.02718	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010870	0.000000	0.02632	2382.33	41	chrX	150512573	.	C	A	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=867;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.457;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	18	0	1	0
chrX	150693659	150693659	C	A	exonic	MTMR1	.	nonsynonymous SNV	MTMR1:NM_001306144:exon1:c.C129A:p.S43R,MTMR1:NM_001306145:exon1:c.C129A:p.S43R,MTMR1:NM_001353990:exon1:c.C129A:p.S43R,MTMR1:NM_003828:exon1:c.C129A:p.S43R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.984523236155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.088e-06	7.284e-06	4.417e-06	0	3.389e-06	5.1e-07	1.9e-07	5.6e-07	2.1e-07	0	0	0	0	0	0	3.389e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.007	0.74150	D	0.872	0.55135	P	0.266	0.50503	B	0.020994	0.26923	N	0.414407	0.951316	0.81001	D	1.995	0.54099	M	-3.75	0.95528	D	-0.59	0.25986	N	0.224	0.34767	0.486	0.90355	D	0.825	0.94132	D	10	0.41905907	0.56739	T	0.984523	0.99926	D	0.561	0.82003	0.198	0.11110	0.923479422052	0.92270	0.4452752999172939	0.44445	.	.	0.894959211349	0.95862	D	0.335876	0.70545	T	0.219868	0.75763	D	0.0780484	0.75448	D	0.690209865570068	0.40257	D	0.693531	0.46458	T	0.3709941	0.58659	0.28988394	0.55009	0.3709941	0.58659	0.28988394	0.55009	-6.678	0.51644	T	.	.	0.802	0.84333	P	.;.;.;.	.;.;.;.	3.673619	0.52256	23.2	0.9925054927144803	0.56858	0.32114	0.24506	N	AEFBHCJ	.	.	.	.	.	.	.	.	.	0.999992512014985	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.71	0.825	0.17962	1.560000	0.35939	3.214000	0.36817	0.441000	0.21086	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.6906:0.0:0.3094	8.115	0.30100	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	31.69	7	chrX	150693659	.	C	A	31.69	.	AC=2;AF=0.059;AN=34;DP=79;ExcessHet=0;FS=0;InbreedingCoeff=0.4008;MLEAC=1;MLEAF=0.029;MQ=60;QD=15.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,133	16	1	0	2
chrX	151181273	151181273	G	A	exonic	GPR50	.	nonsynonymous SNV	GPR50:NM_004224:exon2:c.G1690A:p.A564T	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0141425427828	.	.	9.255e-05	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs751220560	3.644e-05	3.642e-05	2.859e-05	5.235e-05	0.0007	2.747e-05	2.418e-05	0.0005	0.0004	0	0	0	0	0	0	0	6.511e-05	0.0007	0	8.711e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.223	0.25670	T	0.01	0.15535	B	0.005	0.11217	B	0.444352	0.04778	N	1.467820	1	0.08975	N	0.55	0.14455	N	-0.8	0.73845	T	-0.1	0.08495	N	0.027	0.00571	-0.9949	0.31326	T	0.153	0.48326	T	10	0.029416174	0.01069	T	0.014143	0.34055	T	0.031	0.07369	0.195	0.10705	0.838579434231	0.83703	0.05917016903091	0.05857	0.139645380596	0.15743	0.233031019568	0.02200	T	0.040769	0.25635	T	-0.675792	0.00051	T	-0.846594	0.01004	T	0.0190763190674567	0.00615	T	0.633437	0.24778	T	0.046939902	0.07941	0.08966582	0.20981	0.046939902	0.07941	0.08966582	0.20980	-4.113	0.25481	T	.	.	0.068	0.02927	B	.	.	0.051071	0.04644	1.303	0.95216891170039242	0.26432	0.03904	0.09283	N	AEFBI	.	.	.	.	.	.	.	.	.	0.322586553721097	0.19399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.07	0.209	0.14503	-0.683000	0.05280	0.001000	0.13291	-0.389000	0.05354	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.244:0.0:0.5631:0.1929	3.771	0.08162	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001377	0.006803	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.02632	1781.33	39	chrX	151181273	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=1039;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.7;SOR=0.945	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	18	0	1	0
chrX	151396890	151396890	G	C	exonic	VMA21	.	nonsynonymous SNV	VMA21:NM_001363810:exon1:c.G51C:p.E17D	Myopathy, X-linked, with excessive autophagy, X-linked recessive	8	1511	2	1	0	4	0.00132188	.	.	.	1682852	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00423841	0.0001	0.0032	0	0	0	0	0	0	0.0001294	20	154602	rs138128701	0.0004	0.0004	0.0005	0.0003	0.0103	0.0004	0.0004	0.0089	0.0083	0.0103	0.0004	0	0	0	0.0027	4.284e-05	0.0007	7.923e-05	0.0026	0.0027	0.0027	0.0024	0.0088	0.0023	0.0022	0.0079	0.0076	0.0088	0	0.0013	0	0	0	0	3.793e-05	0.0013	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.074892	0.02291	N	2.137540	1	0.08975	N	.	.	.	.	.	.	0.11	0.05706	N	0.057	0.02861	-1.0045	0.28607	T	0.071	0.29066	T	6	0.0035504699	0.00064	T	.	.	.	0.028	0.06331	0.085	0.00830	0.294470080753	0.29051	0.07225031069519404	0.07162	.	.	.	.	.	.	.	.	-0.796491	0.00008	T	-0.910907	0.00430	T	0.00628636324453968	0.00070	T	0.286771	0.05140	T	.	.	.	.	.	.	.	.	-2.977	0.09935	T	.	.	0.080	0.07650	B	.	.	0.282796	0.06594	3.087	0.69401655118958927	0.08960	0.10588	0.16052	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999963246	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.08	-0.846	0.10190	0.086000	0.14780	-0.017000	0.12978	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4304:0.1748:0.3948:0.0	4.130	0.09612	728	0.54609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	890.33	34	chrX	151396890	.	G	C	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.675;DP=796;ExcessHet=0;FS=1.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.469;SOR=0.733	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	18	0	1	0
chrX	151676000	151676000	C	T	exonic	PASD1	.	stopgain	PASD1:NM_173493:exon16:c.C2179T:p.Q727X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998477	0.44966	D	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311787	0.83879	D	0.210084	0.83669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.091605	0.85029	28.5	0.91422688180866363	0.20691	0.03183	0.08166	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00906445843081722	0.11790	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.12	-1.01	0.09650	-0.610000	0.05724	-0.430000	0.09227	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3179:0.5571:0.125	6.477	0.21238	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	880.33	34	chrX	151676000	.	C	T	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.128;DP=708;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.409;SOR=0.489	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1138	18	0	1	0
chrX	152701755	152701755	T	C	exonic	MAGEA3	.	nonsynonymous SNV	MAGEA3:NM_005362:exon3:c.T923C:p.V308A	.	436	1073	9	4	0	17	0.00785945	.	.	.	706134	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290943393	0.0070	0.0071	0.0070	0.0071	0.0079	0.0069	0.0068	0.0078	0.0077	0.0005	0.0034	0.0073	0.0002	0.0028	0.0027	0.0079	0.0070	0.0056	0.0046	0.0046	0.0049	0.0039	0.0074	0.0043	0.0041	0.0068	0.0065	0.0008	0.0015	0.0048	0.0072	0.0009	0.0024	0	0.0074	0.0027	0.0019	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	0.00742	T	3.31	0.00104	N	0.066	0.03841	.	.	.	.	.	.	.	0.013180196	0.00280	T	.	.	.	.	.	.	.	.	.	0.3428355628592226	0.34196	.	.	.	.	.	0.118769	0.43982	T	.	.	.	.	.	.	.	.	.	0.326967	0.06756	T	.	.	.	.	.	.	.	.	-1.168	0.01206	T	.	.	0.090	0.12560	B	.;.	.;.	-1.003543	0.00766	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.412000	0.07197	.	.	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	.	.	.	719	0.55657	MAGE homology domain;MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3909.33	33	chrX	152701755	.	T	C	3909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=846;ExcessHet=0;FS=1.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-8.191;QD=17.77;ReadPosRankSum=1.29;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1356:.	18	0	1	0
chrX	152701759	152701759	G	T	exonic	MAGEA3	.	nonsynonymous SNV	MAGEA3:NM_005362:exon3:c.G927T:p.L309F	.	435	1074	9	4	0	17	0.00785219	.	.	.	706135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	0.00113625805333	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61750034	0.0069	0.0069	0.0069	0.0070	0.0079	0.0068	0.0067	0.0077	0.0076	0.0005	0.0024	0.0073	6.632e-05	0.0027	0.0024	0.0079	0.0069	0.0055	0.0045	0.0045	0.0048	0.0036	0.0073	0.0041	0.0040	0.0067	0.0065	0.0007	0.0015	0.0043	0.0068	0.0008	0.0021	0	0.0073	0.0026	0.0015	0.022	0.48642	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.68	0.04151	T	-3.56	0.68880	D	0.035	0.01004	-0.9883	0.33027	T	0.020	0.08546	T	9	0.067270905	0.09348	T	0.001136	0.01385	T	.	.	0.657	0.79482	0.496628014799	0.49298	0.31023172987906583	0.30936	.	.	0.419956505299	0.27829	T	0.523	0.83353	D	-0.449015	0.01145	T	-0.882755	0.00631	T	0.107307921057315	0.13142	T	0.329367	0.06881	T	0.4727201	0.65457	0.31272355	0.57273	0.4727201	0.65458	0.31272355	0.57272	-6.007	0.46339	T	.	.	0.099	0.16800	B	.;.	.;.	0.726894	0.10963	7.625	0.88735772152324699	0.18213	0.03235	0.08251	N	AEFGCI	.	.	.	.	.	.	.	.	.	3.87365975753626E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	-0.321	0.12087	0.095000	0.14966	.	.	0.340000	0.19754	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.0:0.4312:0.5688:0.0	4.317	0.10440	719	0.55657	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	3983.33	33	chrX	152701759	.	G	T	3983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.448;DP=844;ExcessHet=0;FS=1.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.43;MQRankSum=-7.934;QD=18.11;ReadPosRankSum=1.16;SOR=0.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1356:.	18	0	1	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	37.55	10	chrX	153073262	.	T	G	37.55	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.404;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.1768;MLEAC=2;MLEAF=0.125;MQ=27;MQRankSum=0;QD=2.35;ReadPosRankSum=0.567;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:7,0:7:0:.:.:0,0,34:.	7	0	1	11
chrX	153445300	153445300	T	C	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.A131G:p.E44G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.017868552187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.105e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13834	T	0.386	0.17478	T	0.008	0.14655	B	0.005	0.11217	B	0.180024	0.17128	U	0.440966	1	0.08975	N	0.805	0.20218	L	1.01	0.41058	T	-0.92	0.24676	N	0.149	0.15749	-1.0767	0.08003	T	0.057	0.23828	T	10	0.09365997	0.16593	T	0.017869	0.39735	T	0.047	0.12962	0.305	0.27485	0.124217242631	0.12060	0.2368229446806804	0.23597	0.0236588909431	0.02399	0.33353716135	0.15467	T	0.058828	0.30950	T	-0.390289	0.02678	T	-0.7984	0.01943	T	0.280622899532318	0.24198	T	0.630737	0.24588	T	0.13909522	0.32144	0.08218948	0.18737	0.13909522	0.32144	0.08218948	0.18737	.	.	.	.	.	0.075	0.10400	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.002673	0.13811	10.36	0.9141672761687113	0.20685	0.07720	0.13722	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.846931936365911	0.24971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.79	0.42757	0.039000	0.13770	.	.	0.661000	0.55757	0.000000	0.06391	0.167000	0.23311	0.055000	0.15596	0.0:0.0:0.1875:0.8125	8.796	0.34040	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1380.33	33	chrX	153445300	.	T	C	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.519;DP=767;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.66;SOR=0.652	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	18	0	1	0
chrX	153673959	153673959	G	A	exonic	PNCK	.	nonsynonymous SNV	PNCK:NM_001039582:exon1:c.C217T:p.P73S	.	478	1012	20	12	0	44	0.0212766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	0.00476821	0.0440	0	0	0	.	0.0310	0.0909	0.0495	0.0013454	208	154602	rs576348453	0.0055	0.0052	0.0053	0.0061	0.0190	0.0054	0.0054	0.0147	0.0132	0.0006	0.0011	0.0007	0	0.0026	0.0190	0.0056	0.0053	0.0142	0.0034	0.0035	0.0034	0.0033	0.0106	0.0031	0.0030	0.0077	0.0067	0.0006	0.0102	0.0013	0.0008	0	0.0017	0.0141	0.0055	0.0059	0.0106	0.364	0.11770	T	0.099	0.38891	T	0.149	0.27956	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	-0.21	0.66294	T	-0.45	0.14782	N	0.022	0.00372	-1.0580	0.12260	T	0.117	0.41320	T	7	0.0036617517	0.00067	T	.	.	.	0.036	0.09122	.	.	0.592943046075	0.58972	0.1414271192926602	0.14065	1.30130239228	0.83020	0.698938429356	0.66990	T	.	.	.	-0.779335	0.00011	T	-0.877301	0.00677	T	0.014896998809364	0.00316	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-3.572	0.17453	T	.	.	0.075	0.05491	B	.	.	0.094183	0.04970	1.535	0.9761136775375171	0.34910	0.02376	0.06756	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999948174804915	0.47345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	-2.29	0.06419	-0.477000	0.06663	.	.	-0.905000	0.02300	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2367:0.0:0.4907:0.2726	2.456	0.04254	27	0.98276	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013757	0.016260	0.000000	0.005291	0.000000	0.051724	0.023810	0.022556	0.02632	629.35	33	chrX	153673959	.	G	A	629.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=378;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=-1.606;SOR=0.446	GT:AD:DP:GQ:PL	0/0:24,0:24:58:0,58,673	18	0	1	0
chrX	153674028	153674028	C	G	exonic	PNCK	.	nonsynonymous SNV	PNCK:NM_001039582:exon1:c.G148C:p.G50R	.	440	1049	22	11	0	44	0.0205415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.00476821	0.0126	0.0014	0.0066	0	0.0039	0.0135	0.0432	0.0200	0.0041138	636	154602	rs183794739	0.0054	0.0054	0.0051	0.0059	0.0166	0.0053	0.0052	0.0132	0.0121	0.0007	0.0011	0.0005	0	0.0024	0.0166	0.0056	0.0051	0.0132	0.0034	0.0035	0.0034	0.0033	0.0106	0.0031	0.0030	0.0076	0.0066	0.0007	0.0117	0.0013	0.0008	0	0.0013	0.0138	0.0055	0.0052	0.0106	0.028	0.46129	D	0.008	0.67890	D	0.978	0.58756	D	0.498	0.47596	P	.	.	.	.	1	0.08975	P	.	.	.	-0.21	0.66294	T	-0.08	0.08187	N	0.034	0.00942	-0.7514	0.57862	T	0.205	0.56252	T	6	0.004712194	0.00099	T	.	.	.	0.072	0.21020	.	.	0.408988072059	0.40512	0.08156390918134973	0.08091	1.63338991137	0.89261	0.562147676945	0.47571	T	.	.	.	-0.637622	0.00086	T	-0.677645	0.07128	T	0.0320612547926789	0.02316	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.849	0.21538	T	.	.	0.143	0.31456	B	.	.	0.142661	0.05360	1.845	0.45730729443817891	0.03611	0.06867	0.12892	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990431214537701	0.32152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	1.45	0.21708	-0.063000	0.11612	.	.	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.6865:0.0:0.3135	4.579	0.11644	27	0.98276	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011260	0.014085	0.003717	0.008097	0.000000	0.036145	0.018349	0.016304	0.02632	704.33	33	chrX	153674028	.	C	G	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.287;DP=557;ExcessHet=0;FS=3.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.682;SOR=0.33	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,952	18	0	1	0
chrX	153694771	153694771	C	G	exonic	SLC6A8	.	nonsynonymous SNV	SLC6A8:NM_001142805:exon12:c.C1619G:p.T540S,SLC6A8:NM_001142806:exon12:c.C1304G:p.T435S,SLC6A8:NM_005629:exon12:c.C1649G:p.T550S	Cerebral creatine deficiency syndrome 1, X-linked recessive	7	1502	10	3	0	16	0.00529801	.	.	.	215616	SLC6A8-related_disorder|Creatine_transporter_deficiency|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0010305,MedGen:C1845862,OMIM:300352,Orphanet:52503|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.101	0.136055498162	9.5e-05	.	0.0002	0	0.0001	0	0	0.0003	0.0017	0.0003	0.0002199	34	154602	rs199635059	0.0003	0.0003	0.0003	0.0004	0.0079	0.0003	0.0003	0.0057	0.0049	0.0006	0.0002	0	0	0	0.0079	0.0003	0.0007	0.0005	0.0004	0.0004	0.0003	0.0005	0.0012	0.0003	0.0002	0.0007	0.0006	0.0001	0	0.0012	0	0	0	0.0091	0.0004	0	0.0004	0.452	0.10020	T	0.619	0.07468	T	0.016	0.17332	B	0.034	0.22546	B	0.018669	0.27430	U	0.303685	0.991072	0.24085	N	0.24	0.09707	N	-0.85	0.74371	T	-1.56	0.39119	N	0.095	0.12484	-0.9984	0.30367	T	0.177	0.52162	T	10	0.07418674	0.11309	T	0.136055	0.81853	D	0.101	0.28911	0.28	0.23483	0.302481332339	0.29867	0.39173456452257077	0.39088	0.144365782455	0.16299	0.421785235405	0.28083	T	0.197358	0.55401	T	-0.530226	0.00383	T	-0.643032	0.09451	T	0.00469183185235817	0.00050	T	0.680032	0.28847	T	0.17615359	0.38513	0.15127644	0.35641	0.23499635	0.46328	0.18400282	0.41425	-6.232	0.48181	T	0.11622344083975633	0.10484	0.084	0.11989	B	.;.	.;.	2.342762	0.30025	18.31	0.94667481857217584	0.25288	0.83818	0.42913	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999202858882	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9	3.97	0.45241	0.340000	0.19634	.	.	0.573000	0.29008	0.043000	0.21118	1.000000	0.68203	0.882000	0.42233	0.0:0.5888:0.4112:0.0	10.922	0.46383	23	0.98420	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.014174	0.006849	0.014898	0.039130	0.000000	0.011765	0.004566	0.000000	0.02632	1234.33	42	chrX	153694771	.	C	G	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=761;ExcessHet=0;FS=3.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.044;SOR=0.402	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	18	0	1	0
chrX	153771516	153771516	C	T	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon14:c.C2378T:p.P793L,PLXNB3:NM_001163257:exon15:c.C2447T:p.P816L	.	427	1080	8	7	0	22	0.0100825	.	.	.	717712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0029	0.00821192	0.0057	0.0033	0.0044	0.0008	0.0003	0.0026	0.0152	0.0331	0.0056209	869	154602	rs138935872	0.0038	0.0038	0.0031	0.0050	0.0305	0.0037	0.0036	0.0293	0.0288	0.0038	0.0040	0.0098	0.0002	0.0003	0.0197	0.0021	0.0052	0.0305	0.0036	0.0037	0.0036	0.0038	0.0312	0.0033	0.0032	0.0259	0.0240	0.0031	0	0.0026	0.0090	0.0017	0.0002	0.0185	0.0027	0.0141	0.0312	0.212	0.22224	T	0.207	0.27503	T	0.135	0.27304	B	0.018	0.18489	B	0.004382	0.33795	N	0.281133	0.997733	0.22531	N	1.845	0.48678	L	5.31	0.01121	T	-2.42	0.53096	N	0.177	0.40264	-0.7828	0.56144	T	0.178	0.52381	T	10	0.0056293905	0.00125	T	.	.	.	0.090	0.26093	.	.	0.194818534648	0.19098	0.5383340843596495	0.53758	.	.	0.491781949997	0.37686	T	0.180185	0.53143	T	-0.602859	0.00140	T	-0.615057	0.11579	T	0.012788187392927	0.00217	T	0.835616	0.50622	T	0.09283736	0.21790	0.14637779	0.34681	0.09283736	0.21790	0.14637779	0.34681	-5.413	0.42213	T	.	.	0.107	0.22464	B	.;.	.;.	2.737141	0.35844	20.0	0.99790610643534716	0.87661	0.18495	0.20284	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999245484507451	0.38873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	4.16	0.48138	0.956000	0.28799	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.675000	0.33396	0.2368:0.7632:0.0:0.0	10.659	0.44882	55	0.97548	.;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.018068	0.020408	0.022430	0.019920	0.000000	0.011905	0.013333	0.010526	0.02632	2926.33	37	chrX	153771516	.	C	T	2926.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=900;ExcessHet=0;FS=9.362;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.814;SOR=1.243	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	18	0	1	0
chrX	153982094	153982094	-	CGTGGC	exonic	TMEM187	.	nonframeshift insertion	TMEM187:NM_003492:exon2:c.32_33insCGTGGC:p.A15_G16insVA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0003	0	0	0	0	0.0004	0.0016	0.0004	.	.	.	rs781986712	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0	2.841e-05	0	0	7.426e-05	0.0005	0.0002	0.0002	0.0004	0.0001	0.0002	0.0002	8.385e-05	0.0003	9.491e-05	7.825e-05	0.0002	0.0002	0	0	0	0	0	0	0	0.0003	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2277.77	33	chrX	153982094	.	A	ACGTGGC	2277.77	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.93;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	18	1	0	0
chrX	154448703	154448703	G	A	exonic	FAM50A	.	nonsynonymous SNV	FAM50A:NM_004699:exon6:c.G533A:p.R178Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.302564141271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.732e-06	2.732e-06	2.722e-06	2.753e-06	2.376e-06	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.492	0.16280	T	0.967	0.56408	D	0.533	0.48638	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.23	0.30720	L	.	.	.	-1.82	0.47008	N	0.537	0.56489	-1.0048	0.28517	T	0.132	0.44425	T	9	0.34929729	0.51825	T	0.302564	0.90930	D	0.377	0.69527	0.448	0.50793	0.515165384546	0.51159	0.8056582591655255	0.80520	1.7642981659	0.91166	0.662050664425	0.61703	T	0.078287	0.35856	T	0.0701374	0.60867	D	-0.137029	0.60374	T	0.492277970410213	0.32347	T	0.946905	0.79675	D	0.5928964	0.72308	0.5074759	0.71535	0.5928964	0.72309	0.5074759	0.71535	-7.4	0.56905	T	0.1368672028401172	0.15006	0.146	0.34970	B	.;.	.;.	4.646730	0.74025	26.1	0.99879575112669106	0.95572	0.99203	0.92752	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999999975	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	5.32	0.75377	9.198000	0.94138	11.659000	0.93966	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.688	0.85173	76	0.96806	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1773.81	33	chrX	154448703	.	G	A	1773.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.25;SOR=0.884	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	18	1	0	0
chrX	154461424	154461424	C	G	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon3:c.C920G:p.A307G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.115605506292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.09	0.40267	T	.	.	.	.	.	.	0.000001	0.62929	D	0.055998	0.999867	0.50061	D	.	.	.	2.5	0.14408	T	-1.29	0.32387	N	0.497	0.53006	-1.1157	0.02622	T	0.045	0.19437	T	10	0.41743043	0.56636	T	0.115606	0.79484	D	0.085	0.24743	0.716	0.85141	0.294470080753	0.29051	0.3010057702562346	0.30013	.	.	0.486056864262	0.36892	T	.	.	.	-0.288697	0.09767	T	-0.652469	0.08782	T	0.602166831493378	0.36486	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.	.	2.989099	0.39896	21.1	0.9924636313664239	0.56727	0.90940	0.52550	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999246383453	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	4.21	0.48984	2.736000	0.47058	0.102000	0.14662	0.596000	0.33519	0.983000	0.35670	0.000000	0.08366	0.958000	0.51230	0.1636:0.8364:0.0:0.0	12.908	0.57555	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1787.33	44	chrX	154461424	.	C	G	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.949;DP=753;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.126;SOR=1.046	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chrX	154461462	154461462	A	G	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon3:c.A958G:p.I320V	.	.	.	.	.	.	.	.	.	.	.	3220266	PLXNA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.138	0.00552078093857	.	0.0018543	0.0008	0	0	0	0	0	0	0.0068	0.0007374	114	154602	rs782408788	0.0004	0.0004	0.0002	0.0007	0.0069	0.0004	0.0003	0.0064	0.0061	3.788e-05	0	0	9.933e-05	0	0.0005	5.938e-06	0.0007	0.0069	0.0003	0.0003	0.0002	0.0005	0.0112	0.0002	0.0002	0.0081	0.0071	0	0	0	0	0	0	0	0	0	0.0112	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.183274	0.17045	N	0.610619	0.998644	0.22015	N	.	.	.	4.28	0.02487	T	0.27	0.04306	N	0.104	0.08786	-0.9944	0.31459	T	0.003	0.00961	T	10	0.0111190975	0.00244	T	0.005521	0.14227	T	0.138	0.37187	0.649	0.78648	0.15499578495	0.15088	0.2151633246064452	0.21432	.	.	0.308013796806	0.11607	T	.	.	.	-0.816264	0.00006	T	-0.942255	0.00287	T	0.0145269108634048	0.00296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00514	B	.	.	-1.252246	0.00481	0.010	0.19826402172744179	0.00686	0.01603	0.05200	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999995648121713	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	-6.33	0.01814	0.218000	0.17407	-2.611000	0.03550	-0.069000	0.16386	0.017000	0.19353	0.000000	0.08366	0.443000	0.27738	0.1726:0.0:0.8274:0.0	19.136	0.93413	74	0.96871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1738.33	44	chrX	154461462	.	A	G	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.404;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	18	0	1	0
chrX	154462261	154462261	G	A	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon4:c.G1268A:p.R423H	.	422	1099	1	0	0	1	0.000454752	.	.	.	2260062	not_specified|PLXNA3-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00435764657328	0.0007	.	0.0005	0.0001	0.0008	0.0002	0.0011	0.0005	0	0.0001	0.0003363	52	154602	rs139368340	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	0.0001	0.0005	0	6.883e-05	0.0006	0	0.0005	0.0003	0.0002	0.0004	0.0005	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	9.634e-05	0	0	0	0	0.0002	0	0.0008	0	0	0.262	0.16466	T	0.217	0.26145	T	.	.	.	.	.	.	0.043960	0.23688	N	0.509696	0.988974	0.24350	N	.	.	.	3.59	0.04544	T	-0.85	0.23156	N	0.059	0.03069	-0.9458	0.41681	T	0.009	0.03054	T	10	0.023779929	0.00633	T	0.004358	0.10624	T	0.030	0.07022	.	.	0.171220215726	0.16700	0.31692890067236523	0.31605	.	.	0.255529820919	0.04372	T	.	.	.	-0.847159	0.00003	T	-1.04601	0.00070	T	0.018942736854373	0.00604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.	.	0.813921	0.11849	8.417	0.94107900976192749	0.24276	0.07534	0.13547	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.997563778931775	0.35763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.77	-0.346	0.11994	0.470000	0.21795	-0.495000	0.08836	-0.136000	0.12710	0.059000	0.21734	0.000000	0.08366	0.951000	0.49849	0.497:0.0:0.503:0.0	9.589	0.38702	74	0.96871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.001391	0.006993	0.000000	0.003968	0.000000	0.000000	0.000000	0.000000	0.05263	943.81	43	chrX	154462261	.	G	A	943.81	.	AC=2;AF=0.053;AN=38;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.49;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	18	1	0	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.1316	6506.33	38	chrX	154534419	.	G	A	6506.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.19;DP=872;ExcessHet=0;FS=0.472;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.8;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	16	2	1	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5912.29	36	chrX	154776813	.	C	CAAG	5912.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.737;DP=767;ExcessHet=0;FS=3.044;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=0.404;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	16	2	1	0
chrX	154786265	154786265	G	A	exonic	MPP1	.	nonsynonymous SNV	MPP1:NM_001166460:exon6:c.C565T:p.R189W,MPP1:NM_001166461:exon6:c.C556T:p.R186W,MPP1:NM_002436:exon6:c.C616T:p.R206W,MPP1:NM_001166462:exon7:c.C526T:p.R176W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.230517246685	.	0.000264901	2.282e-05	0.0001	0	0.0002	0	0	0	0	3.88e-05	6	154602	rs782521600	2.459e-05	2.458e-05	3.131e-05	1.101e-05	0.0002	1.684e-05	1.443e-05	2.632e-05	1.429e-05	0	0	0	9.936e-05	0	0.0002	2.494e-05	2.17e-05	1.847e-05	1.787e-05	1.741e-05	1.285e-05	2.931e-05	0.0003	2.97e-06	1.11e-06	.	.	0	0	9.404e-05	0	0.0003	0	0	0	0	0	0.004	0.65419	D	0.001	0.83351	D	0.994	0.90584	D	0.883	0.62698	P	0.000178	0.48594	D	0.175219	0.99989	0.50595	D	2.835	0.82492	M	-2.15	0.86481	D	-6.52	0.91695	D	0.45	0.48780	0.571	0.91518	D	0.776	0.92398	D	10	0.55052227	0.64229	D	0.230517	0.88234	D	0.699	0.89145	0.605	0.73706	0.935901096463	0.93523	0.8255856070435866	0.82516	0.507338160689	0.48918	0.687044560909	0.65281	T	0.284209	0.65698	T	0.0189069	0.54234	T	-0.0182824	0.69142	D	0.695869982242584	0.40522	D	0.916908	0.71149	D	0.6205483	0.73792	0.6365208	0.78777	0.6205483	0.73794	0.6365208	0.78778	-8.532	0.64641	D	.	.	0.183	0.53936	B	.;.;.;.;.;.	.;.;.;.;.;.	4.568415	0.72054	25.8	0.99911079665236957	0.98022	0.97150	0.72983	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999916424456	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	2.23	0.27189	1.506000	0.35354	4.084000	0.41759	0.676000	0.76740	0.999000	0.42656	0.994000	0.32194	0.992000	0.67800	0.0855:0.0:0.6587:0.2558	7.567	0.27050	81	0.96616	SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;.;.;SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|MPP1, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1521.33	35	chrX	154786265	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=756;ExcessHet=0;FS=2.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.195;SOR=0.486	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1535,0,1545	18	0	1	0
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1	530.74	315	chrX	154928659	.	G	T	530.74	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-4.562;DP=2372;ExcessHet=0.3672;FS=183.52;InbreedingCoeff=-0.1523;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=4.08;SOR=11.059	GT:AD:DP:GQ:PL	./.:248,0:248:0:0,0,4434	12	0	3	4
chrX	154953948	154953948	T	C	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon12:c.A1847G:p.N616S	Hemophilia A, X-linked recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2795269	Bardet-Biedl_syndrome_2	MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.573196748178	9.5e-05	.	0.0002	0	0	0	0	0.0003	0.0016	0	0.0001617	25	154602	rs375093700	7.286e-05	7.284e-05	5.717e-05	0.0001	0.0005	5.959e-05	5.52e-05	8.514e-05	6.256e-05	0	0	0	0	9.869e-05	0.0005	8.433e-05	2.17e-05	3.694e-05	5.364e-05	5.221e-05	1.285e-05	0.0001	0.0004	2.325e-05	1.564e-05	3.694e-05	2.392e-05	0	0	0	0	0	0	0	9.403e-05	0	0.0004	0.152	0.24468	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	0.355438	0.13751	N	0.737807	1	0.08975	N	0.565	0.15224	N	-6.71	0.99769	D	-2.07	0.47344	N	0.053	0.02462	0.907	0.95772	D	0.939	0.97989	D	10	0.15907934	0.29899	T	0.573197	0.96148	D	0.262	0.57482	.	.	0.715724739074	0.71323	0.8933462162278807	0.89304	0.511042367575	0.49199	0.252330541611	0.04017	T	0.529925	0.83714	D	-0.388585	0.02748	T	-0.501117	0.22233	T	0.04093203821421	0.03860	T	0.672333	0.28093	T	0.15846334	0.35649	0.16491449	0.38179	0.15846334	0.35649	0.16491449	0.38178	-3.796	0.20745	T	0.20096757974924584	0.26687	0.087	0.11124	B	.	.	-0.898758	0.00928	0.035	0.57352537915972024	0.05750	0.03951	0.09352	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00477433158853883	0.10707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.18	-3.35	0.04620	-0.264000	0.08683	-0.824000	0.07283	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.468000	0.28296	0.0:0.5019:0.0:0.4981	10.835	0.45884	194	0.92479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000690	0.000000	0.000000	0.000000	0.000000	0.000000	0.004484	0.000000	0.02632	3042.33	34	chrX	154953948	.	T	C	3042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.727;DP=860;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.801;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	18	0	1	0
chrY	9337966	9337966	C	T	exonic	TSPY1;TSPY10;TSPY3;TSPY4;TSPY8	.	nonsynonymous SNV	TSPY4:NM_001164471:exon1:c.C457T:p.R153C,TSPY3:NM_001077697:exon2:c.C439T:p.R147C,TSPY8:NM_001243721:exon2:c.C439T:p.R147C,TSPY10:NM_001282469:exon2:c.C439T:p.R147C,TSPY10:NM_001320962:exon2:c.C439T:p.R147C,TSPY1:NM_001320964:exon2:c.C178T:p.R60C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.942861970661	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199647885	9.807e-05	0.0002	.	9.807e-05	0.0002	6.726e-05	5.665e-05	6.989e-05	5.828e-05	0	0.0002	0	0	0	0	0.0001	9.485e-05	0.0001	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.902054	0.27681	N	.	.	.	1.65	0.27650	T	-6.46	0.91436	D	0.105	0.11626	-0.9968	0.30810	T	0.103	0.37869	T	5	0.39564317	0.55206	T	0.942862	0.99598	D	0.054	0.15330	.	.	0.0666544352282	0.05500	0.06584103714838452	0.06523	.	.	.	.	.	0.181022	0.53255	T	-0.337799	0.05541	T	-0.723001	0.04652	T	0.888439655303955	0.53903	D	0.835916	0.50694	T	0.29662415	0.52600	0.37077254	0.62320	0.29662415	0.52600	0.37077254	0.62320	-9.088	0.68261	D	.	.	0.233	0.49903	B	.;.;.	.;.;.	1.757346	0.22356	15.59	0.98952691854340846	0.49170	0.13753	0.18033	N	AEF	.	.	.	.	.	.	.	.	.	0.814854012122898	0.24420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789000	0.26547	.	.	.	.	0.986000	0.36153	0.000000	0.08366	.	.	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	52.64	.	chrY	9337966	.	C	T	52.64	.	AC=2;AF=0.111;AN=18;DP=38;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=27;QD=26.32;SOR=2.303	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	1	0	10
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1206.54	.	chrY	9467257	.	G	A	1206.54	.	AC=3;AF=0.167;AN=18;BaseQRankSum=1.66;DP=159;ExcessHet=0.8432;FS=2.407;MLEAC=5;MLEAF=0.278;MQ=34.27;MQRankSum=-0.869;QD=16.09;ReadPosRankSum=-0.261;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	6	0	3	10
chrY	9467432	9467432	C	G	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.C432G:p.H144Q,TSPY1:NM_003308:exon1:c.C432G:p.H144Q,TSPY1:NM_001320964:exon2:c.C171G:p.H57Q	.	1129	390	2	1	0	4	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.978378320157	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772185599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.013	0.63109	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	.	.	.	2.345	0.67358	M	1.75	0.26152	T	-5.99	0.89401	D	0.225	0.25253	-1.0690	0.09634	T	0.073	0.29515	T	5	0.10270485	0.18840	T	0.978378	0.99882	D	0.073	0.21317	.	.	0.193865811164	0.18958	0.12784609756287668	0.12709	.	.	.	.	.	0.10629	0.41750	T	-0.277042	0.10984	T	-0.635728	0.09984	T	0.880145311355591	0.53014	D	0.480552	0.15143	T	0.5745436	0.71310	0.40950003	0.65237	0.5745436	0.71311	0.40950003	0.65237	-6.135	0.47395	T	.	.	0.639	0.70690	P	.;.	.;.	1.268877	0.16672	12.69	0.83918520770427629	0.14993	0.04546	0.10183	N	AEF	.	.	.	.	.	.	.	.	.	1.09506468559346E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.187000	0.31699	.	.	0.200000	0.17917	0.934000	0.32416	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	77.64	.	chrY	9467432	.	C	G	77.64	.	AC=2;AF=0.1;AN=20;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=0.6969;MLEAC=2;MLEAF=0.1;MQ=29.01;QD=25.88;SOR=2.833	GT:AD:DP:GQ:PL	./.:.:.:.:.	9	1	0	9
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C,TSPY1:NM_003308:exon4:c.C739T:p.R247C,TSPY1:NM_001320964:exon5:c.C478T:p.R160C	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	226.97	.	chrY	9468575	.	C	T	226.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.17;DP=373;ExcessHet=0.7463;FS=27.454;InbreedingCoeff=-0.1765;MLEAC=5;MLEAF=0.25;MQ=21.97;MQRankSum=-0.786;QD=1.91;ReadPosRankSum=1.05;SOR=4.644	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	0	3	9
chrY	19706182	19706182	C	T	exonic	KDM5D	.	nonsynonymous SNV	KDM5D:NM_001146706:exon26:c.G4262A:p.R1421Q,KDM5D:NM_004653:exon27:c.G4433A:p.R1478Q,KDM5D:NM_001146705:exon28:c.G4526A:p.R1509Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00243309	0.0010	0.0165	0	0	0	0.0001	0	0	0.0003299	51	154602	rs35681523	0.0003	0.0003	.	0.0003	0.0131	0.0003	0.0003	0.0110	0.0102	0.0131	0.0008	0	0	0	0.0006	1.868e-05	0.0013	6.38e-05	0.0030	0.0035	.	0.0030	0.0105	0.0025	0.0024	0.0087	0.0080	0.0105	0	0.0028	0	0	0	0	7.579e-05	0.0023	0	1.0	0.04469	T	0.517	0.12211	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	-1.94	0.85875	D	0.12	0.06369	N	0.071	0.09490	.	.	.	.	.	.	.	0.0043544173	0.00088	T	.	.	.	.	.	.	.	0.566846708062	0.56349	0.01269385037655379	0.01228	.	.	.	.	.	0.006499	0.05931	T	-0.529782	0.00385	T	-0.523383	0.19953	T	.	.	.	0.465553	0.13627	T	0.05623664	0.11037	0.10114657	0.24205	0.05623664	0.11036	0.10114657	0.24204	-3.023	0.10431	T	.	.	0.063	0.02313	B	.;.;.;.	.;.;.;.	0.431896	0.08022	4.741	0.16441880935360864	0.00441	0.00012	0.00170	N	AEFB	.	.	.	.	.	.	.	.	.	0.999663067905132	0.41534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	-0.979	0.09751	0.414000	0.20885	.	.	-1.057000	0.01625	0.004000	0.16614	0.006000	0.19429	0.005000	0.06747	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	12403.8	.	chrY	19706182	.	C	T	12403.8	.	AC=2;AF=0.1;AN=20;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.15;MQ=60;QD=32.39;SOR=0.698	GT:AD:DP:GQ:PL	./.:.:.:.:.	9	1	0	9
chrY	21540613	21540613	G	C	exonic	RBMY1A1;RBMY1B;RBMY1D	.	nonsynonymous SNV	RBMY1D:NM_001006120:exon4:c.G229C:p.A77P,RBMY1B:NM_001006121:exon4:c.G229C:p.A77P,RBMY1A1:NM_001320944:exon4:c.G229C:p.A77P,RBMY1B:NM_001320948:exon4:c.G229C:p.A77P,RBMY1D:NM_001320949:exon4:c.G229C:p.A77P,RBMY1A1:NM_005058:exon4:c.G229C:p.A77P,RBMY1D:NM_001320950:exon5:c.G157C:p.A53P	.	1004	499	19	0	0	19	0.0186824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.962498979692	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311459925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.419	0.17064	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	-0.285	0.03692	N	2.39	0.15724	T	-2.5	0.54382	D	0.183	0.19995	.	.	.	.	.	.	.	0.34364584	0.51373	T	0.962499	0.99758	D	.	.	.	.	0.211220785272	0.20719	0.09346906487212094	0.09278	.	.	.	.	.	0.022367	0.17257	T	-0.346774	0.04933	T	-0.735893	0.04065	T	.	.	.	0.775222	0.41560	T	0.59579325	0.72464	0.48096418	0.69942	0.59579325	0.72465	0.48096418	0.69943	-3.755	0.21044	T	.	.	0.296	0.55103	B	.;.;.	.;.;.	0.759604	0.11292	7.918	0.61740261725115464	0.06785	0.05827	0.11767	N	AEF	.	.	.	.	.	.	.	.	.	1.78945847649623E-4	0.05786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392000	0.20527	.	.	-0.720000	0.03816	0.998000	0.41325	0.000000	0.08366	0.090000	0.17789	.	.	.	.	.	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	220.21	.	chrY	21540613	.	G	C	220.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.647;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=22.32;MQRankSum=0.155;QD=6.88;ReadPosRankSum=-2.064;SOR=0.324	GT:AD:DP:GQ:PL	./.:.:.:.:.	9	0	1	9